# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2023/05/20 # PURPOSE: annotations about active Rat objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 10002 BBDP/Rhw strain DOID:9008671 T-Lymphocytopenia IMP D RGD:61032|PMID:9530633 20201027 RGD 10002 BBDP/Rhw strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:1598569|PMID:17130479 20210219 RGD 10002 BBDP/Rhw strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:2306526|PMID:19351909 20210219 RGD 10002 BBDP/Rhw strain DOID:9744 type 1 diabetes mellitus MODEL:spontaneous IAGP D RGD:61032|PMID:9530633 20201027 RGD 10002743 DA.E3-(D20Rat42-D20Rat49)/Rhd strain DOID:9002457 Experimental Arthritis severity IAGP XCO:0000265,XCO:0000281 D RGD:737659|PMID:8972741 20200814 RGD compared to LEW.1AV1/Kini 10002743 DA.E3-(D20Rat42-D20Rat49)/Rhd strain DOID:9002457 Experimental Arthritis susceptibility IAGP XCO:0000265 D RGD:737659|PMID:8972741 20200814 RGD 10002745 DA.E3-(D20Rat47-AA858870)/Rhd strain DOID:9002211 Hyperalgesia susceptibility IAGP D RGD:10002747|PMID:20471989 20150423 RGD compared to DA/ZtmRhd 10008 BN/SsNHsd strain DOID:9005396 Intimal Hyperplasia induces IAGP XCO:0000268 D RGD:39456133|PMID:10364562 20210713 RGD compared to SHR 10008 BN/SsNHsd strain DOID:9008939 Breast Neoplasms MODEL: control IAGP XCO:0000092 D RGD:1642522|PMID:16885383 20200317 RGD 10011 COP/OlaHsd strain DOID:3459 breast carcinoma MODEL: control IAGP XCO:0000090 D RGD:61081|PMID:9584103 20200310 RGD 10016 GH/Omr Genetically Hypertensive strain DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20191125 RGD 10016 GH/Omr Genetically Hypertensive strain DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:2301936|PMID:18925692 20191125 RGD associated with hypertension 10017 GK/KyoSwe Goto Kakizaki strain DOID:10603 glucose intolerance IAGP D RGD:61082|PMID:8528247 20200303 RGD 10017 GK/KyoSwe Goto Kakizaki strain DOID:4195 hyperglycemia IAGP D RGD:61082|PMID:8528247 20200303 RGD 10017 GK/KyoSwe Goto Kakizaki strain DOID:9352 type 2 diabetes mellitus MODEL:spontaneous IAGP D RGD:61082|PMID:8528247 20191126 RGD 10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared to LL/Mav 10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav 10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2313340|PMID:19462495 20200207 RGD 10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2316962|PMID:16928787 20191202 RGD compared to LL/Mav 10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61057|PMID:7981757 19990101 RGD compared to LN/Mav 10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61058|PMID:9329963 20191202 RGD compared to LN/Mav 10021 LH/Mav strain DOID:10763 hypertension induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20200403 RGD associated with diabetes mellitus 10021 LH/Mav strain DOID:10763 hypertension treatment IAGP XCO:0000588 D RGD:13441562|PMID:18443571 20191126 RGD associated with diabetes mellitus 10021 LH/Mav strain DOID:2018 hyperinsulinism IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav 10021 LH/Mav strain DOID:576 proteinuria induced IAGP XCO:0000164 D RGD:2313340|PMID:19462495 20200207 RGD compared to BN/NHsdMcwi 10021 LH/Mav strain DOID:576 proteinuria treatment IAGP XCO:0000588 D RGD:13441561|PMID:18954523 20200221 RGD 10021 LH/Mav strain DOID:9000808 Hypercholesterolemia IAGP D RGD:13441562|PMID:18443571 20191126 RGD compared to LL/Mav 10021 LH/Mav strain DOID:9000808 Hypercholesterolemia IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav 10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared to LL/Mav 10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:2316962|PMID:16928787 20191202 RGD compared to LL/Mav 10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy ameliorates IAGP XCO:0000588 D RGD:13441562|PMID:18443571 20210122 RGD associated with diabetes mellitus 10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20200403 RGD associated with diabetes mellitus 10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy treatment IAGP XCO:0000588 D RGD:13441562|PMID:18443571 20200117 RGD associated with diabetes mellitus 10021 LH/Mav strain DOID:9005274 Polyuria MODEL:induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20191126 RGD associated with diabetes mellitus 10021 LH/Mav strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav 10021 LH/Mav strain DOID:9351 diabetes mellitus MODEL: induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20191126 RGD compared to LL/Mav 10021 LH/Mav strain DOID:9970 obesity IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav 10022 LN/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:1580389|PMID:8301098 20191203 RGD compared with LH/Mav 10022 LN/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:61057|PMID:7981757 20191203 RGD compared with LH/Mav 10022 LN/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:61058|PMID:9329963 20191203 RGD compared with LH/Mav 10025 MHS/Gib Milan Hypertensive Strain strain DOID:10763 hypertension IAGP D RGD:126925235|PMID:3611769 20210707 RGD compared to MNS/Gib 10025 MHS/Gib Milan Hypertensive Strain strain DOID:10763 hypertension IAGP D RGD:69692|PMID:11082136 19990101 RGD compared to MNS/Gib 10040 SR/Jr Salt Resistant strain DOID:10763 hypertension MODEL: control IAGP XCO:0000022 D RGD:61040|PMID:9685318 19990101 RGD compared to SS/Jr 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension IAGP D RGD:634617|PMID:12707388 19990101 RGD 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL IAGP D RGD:8657072|PMID:21602714 20210108 RGD compared to congenics with Lewis alleles 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP D RGD:704345|PMID:12939233 20201022 RGD compared to Lewis rat and congenics 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:61040|PMID:9685318 19990101 RGD compared to SR/Jr, LEW/Ncrl 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:61516|PMID:11015598 19990101 RGD compared to SS/Jr strain 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:619649|PMID:11875185 20200109 RGD compared to SS.LEW-(D5Rat130-D5Mco10)/Jr; MMO:0000031 10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:69710|PMID:9383281 19990101 RGD compared to SS.SR-(Cyp11b1)/Jr strain 10041 SS/Jr Salt Sensitive strain DOID:9001542 Albuminuria IAGP D RGD:634617|PMID:12707388 19990101 RGD compared to SHR/NHsd 10041 SS/Jr Salt Sensitive strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 10041 SS/Jr Salt Sensitive strain DOID:9003631 Diastolic Dysfunction induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20201215 RGD compared to C2S.M21 10041 SS/Jr Salt Sensitive strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 10041 SS/Jr Salt Sensitive strain DOID:9006024 Hypotension MODEL: control IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20201215 RGD compared to congenics 10043120 BBDP.ACI-(D2Mit8-D2Rat69)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn and BBDP.ACI-(D2Mit8-D2Arb16)(D2Rat354-D2Rat69)/Sunn 10043122 BBDP.ACI-(D2Mit8-D2Arb16)(D2Rat354-D2Rat69)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn and BBDP.ACI-(D2Mit8-D2Rat69)/Sunn 10043124 BBDP.ACI-(D2Mit8-D2Arb16)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn 10043127 BBDP.ACI-(D2Mit8-D2Rat354)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn 10043132 BBDP.ACI-(D2Rat50-D2Rat63)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn 10043136 Iddm54 Insulin dependent diabetes mellitus QTL 54 qtl DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:10043114|PMID:24920533 20150617 RGD 10043139 Iddm55 Insulin dependent diabetes mellitus QTL 55 qtl DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:10043114|PMID:24920533 20150617 RGD 10045371 Mir155hg Mir155 host gene gene DOID:3069 malignant astrocytoma severity ISO RGD:1350378 D RGD:11571728|PMID:27764782 20190121 RGD 10045415 Kantr KANTR integral membrane protein gene DOID:12849 autistic disorder ISO RGD:7779000 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10045545 CDS/Sasz Cohen diabetic-sensitive rat strain DOID:9005643 Experimental Diabetes Mellitus MODEL: induced IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDr/Sasz; sexual dimorphism 10045545 CDS/Sasz Cohen diabetic-sensitive rat strain DOID:9351 diabetes mellitus MODEL: induced IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDr/Sasz; sexual dimorphism 10045548 CDR/Sasz Cohen diabetic-rssistant rat strain DOID:9005643 Experimental Diabetes Mellitus MODEL: control IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDS/Sasz; sexual dimorphism 10045548 CDR/Sasz Cohen diabetic-rssistant rat strain DOID:9351 diabetes mellitus MODEL: control IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDS/Sasz; sexual dimorphism 10045592 Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi gene DOID:11723 Duchenne muscular dystrophy IMP D RGD:11040981|PMID:25005781 20170501 RGD 10045593 W-Dmdem1Kykn strain DOID:11723 Duchenne muscular dystrophy MODEL: spontaneous IMP D RGD:11040981|PMID:25005781 20170501 RGD 10047 WTC/Kyo strain DOID:9000495 Tremor MODEL: control IAGP D RGD:11060746|PMID:25970616 20200910 RGD compared to TRM/Kyo and TRMR/Kyo 10047391 LE/OrlBarth Long-Evans/Cryptorchid strain DOID:11383 cryptorchidism MODEL: spontaneous IAGP D RGD:12911229|PMID:26502805 20180607 RGD 10053596 Foxn1em1Nips forkhead box N1; CRISPR/Cas9 system induced mutant 1, National Institute for Physiological Sciences gene DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20201210 RGD 10053598 WI-Foxn1em1Nips strain DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20161212 RGD 10053598 WI-Foxn1em1Nips strain DOID:9004911 Thymus Hyperplasia MODEL:spontaneous IMP D RGD:11568681|PMID:26931321 20161212 RGD 10053599 Foxn1em2Nips forkhead box N1; CRISPR/Cas9 system induced mutant 2, National Institute for Physiological Sciences gene DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20201210 RGD 10053601 WI-Foxn1em2Nips strain DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20161212 RGD 10053601 WI-Foxn1em2Nips strain DOID:9004911 Thymus Hyperplasia MODEL:spontaneous IMP D RGD:11568681|PMID:26931321 20161212 RGD 10053700 Scort23 Serum corticosterone level QTL 23 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10053715 Scort24 Serum corticosterone level QTL 24 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10053718 Scort25 Serum corticosterone level QTL 25 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10053720 Scort26 Serum corticosterone level QTL 26 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10053722 Scort27 Serum corticosterone level QTL 27 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054088 Scort28 Serum corticosterone level QTL 28 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054123 Srcrt6 Stress Responsive Cort QTL 6 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054125 Srcrt7 Stress Responsive Cort QTL 7 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054130 Srcrt8 Stress Responsive Cort QTL 8 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054132 Srcrt9 Stress Responsive Cort QTL 9 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054135 Gmadr2 Adrenal mass QTL 2 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054138 Gmadr3 Adrenal mass QTL 3 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054141 Gmadr4 Adrenal mass QTL 4 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:14499 Fabry disease IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type 10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:3211 lysosomal storage disease IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type 10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:9000641 Pain IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type 10054398 DA-Glaem2Mcwi strain DOID:14499 Fabry disease IMP D RGD:150429980|PMID:29563343 20211020 RGD compared to wild type 10054398 DA-Glaem2Mcwi strain DOID:3211 lysosomal storage disease IMP D RGD:150429980|PMID:29563343 20211020 RGD compared to wild type 10054398 DA-Glaem2Mcwi strain DOID:9000641 Pain IMP D RGD:150429980|PMID:29563343 20211020 RGD compared to wild type 10058949 Gmadr5 Adrenal mass QTL 5 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10058952 Gmadr6 Adrenal mass QTL 6 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10058954 Gmadr7 Adrenal mass QTL 7 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD 10059587 Bw173 Body weight QTL 173 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059590 Kidm44 Kidney mass QTL 44 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059592 Kidm45 Kidney mass QTL 45 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059594 Kidm46 Kidney mass QTL 46 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059597 Bp377 Blood pressure QTL 377 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059600 Bp378 Blood pressure QTL 378 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059603 Bw174 Body weight QTL 174 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059605 Kidm47 Kidney mass QTL 47 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD 10059729 Baiap3 BAI1-associated protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 10059729 Baiap3 BAI1-associated protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 10059729 Baiap3 BAI1-associated protein 3 gene DOID:1826 epilepsy ISO RGD:1318052 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10059729 Baiap3 BAI1-associated protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318052 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10059729 Baiap3 BAI1-associated protein 3 gene DOID:2843 long QT syndrome ISO RGD:1318052 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 10059729 Baiap3 BAI1-associated protein 3 gene DOID:630 genetic disease ISO RGD:1318052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10398754 Mirlet7bhg Mirlet7b host gene gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2304161 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 10398754 Mirlet7bhg Mirlet7b host gene gene DOID:1324 lung cancer susceptibility ISO RGD:2304161 D RGD:152998959|PMID:26199339 20220708 RGD DNA:SNPs:multiple 10398754 Mirlet7bhg Mirlet7b host gene gene DOID:9005172 Lung Neoplasms ISO RGD:2304161 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26199339 10401149 Mtln mitoregulin gene DOID:0050795 cone dystrophy ISO RGD:2303856 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 10401149 Mtln mitoregulin gene DOID:0060041 autism spectrum disorder ISO RGD:2303856 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 10401149 Mtln mitoregulin gene DOID:0111112 nephronophthisis 1 ISO RGD:2303856 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 10401208 F344-Tg(Prp-APP,Prp-PS1)19/Rrrc strain DOID:680 tauopathy IAGP D RGD:10401209|PMID:23575824 20210115 RGD 10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:1936 atherosclerosis ISO RGD:5490463 D RGD:155882579|PMID:34289702 20230131 RGD RNA:decreased expression:carotid artery 10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:1936 atherosclerosis disease_progression ISO RGD:7181169 D RGD:155882579|PMID:34289702 20230131 RGD 10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:7181169 D RGD:155882579|PMID:34289702 20230131 RGD 10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9002514 Neointima ameliorates IDA D RGD:155883160|PMID:34694145 20230202 RGD 10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9002514 Neointima exacerbates ISO RGD:7181169 D RGD:155883160|PMID:34694145 20230202 RGD 10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9006182 Carotid Artery Injuries IEP D RGD:155883160|PMID:34694145 20230202 RGD mRNA:decreased expression:carotid artery: 10401796 Kidm48 Kidney mass QTL 48 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401800 Kidm49 Kidney mass QTL 49 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401803 Kidm50 Kidney mass QTL 50 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401805 Kidm51 Kidney mass QTL 51 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401807 Kidm52 Kidney mass QTL 52 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401810 Kidm53 Kidney mass QTL 53 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401812 Kidm54 Kidney mass QTL 54 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD 10401835 WKY.F344-(D17Got91-D17Rat51)/Tja strain DOID:9006102 Right Ventricular Hypertrophy severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk; similar to F344/NHsd 10401835 WKY.F344-(D17Got91-D17Rat51)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk 10401837 WKY.F344-(D17Got91-D17Rat47)/Tja strain DOID:9006102 Right Ventricular Hypertrophy induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401837 WKY.F344-(D17Got91-D17Rat47)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401839 WKY.F344-(D17Rat47-D17Rat51)/Tja strain DOID:9006102 Right Ventricular Hypertrophy severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk; similar to F344/NHsd 10401839 WKY.F344-(D17Rat47-D17Rat51)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk 10401841 WKY.F344-(D17Rat131-D17Rat51)/Tja strain DOID:9006102 Right Ventricular Hypertrophy induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401841 WKY.F344-(D17Rat131-D17Rat51)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006102 Right Ventricular Hypertrophy IMP D RGD:10401832|PMID:26258299 20200130 RGD 10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006102 Right Ventricular Hypertrophy severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20201210 RGD 10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IMP D RGD:10401832|PMID:26258299 20200130 RGD 10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20201210 RGD 10401845 WKY-Slc39a12em77Tja+/- WKY-Slc39a12em77Tja+/WKY-Slc39a12em77Tja- strain DOID:9006102 Right Ventricular Hypertrophy induced IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401845 WKY-Slc39a12em77Tja+/- WKY-Slc39a12em77Tja+/WKY-Slc39a12em77Tja- strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401848 WKY-Slc39a12em77Tja-/- WKY-Slc39a12em77Tja-/WKY-Slc39a12em77Tja- strain DOID:9006102 Right Ventricular Hypertrophy severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401848 WKY-Slc39a12em77Tja-/- WKY-Slc39a12em77Tja-/WKY-Slc39a12em77Tja- strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 10401918 BDIX/HanHsd strain DOID:9009121 lung metastasis treatment IAGP D RGD:150527857|PMID:7818325 20211206 RGD 10402051 Gdil2 Gastrointestinal dilation QTL 2 qtl DOID:10487 Hirschsprung's disease severity IDA D RGD:10402048|PMID:25790447 20151014 RGD 10402051 Gdil2 Gastrointestinal dilation QTL 2 qtl DOID:9003546 Total Intestinal Aganglionosis severity IDA D RGD:10402048|PMID:25790447 20151014 RGD 10402855 Bp379 Blood pressure QTL 379 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20151130 RGD 10402857 Bp380 Blood pressure QTL 380 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20151130 RGD 10402859 Bp381 Blood pressure QTL 381 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20151130 RGD 10413846 Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD 10413847 Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD 10413848 Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD 10413852 SD-Abcc6em2Qlju-/- strain DOID:2738 pseudoxanthoma elasticum MODEL: spontaneous IMP D RGD:13792593|PMID:28111129 20180920 RGD 10413854 SD-Abcc6em3Qlju-/- strain DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD 10413856 SD-Abcc6em4Qlju-/- strain DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD 10450493 Bp382 Blood pressure QTL 382 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD 10450495 Bp383 Blood pressure QTL 383 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD 10450498 Bp384 Blood pressure QTL 384 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD 10450500 Bp385 Blood pressure QTL 385 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD 10450503 Bp386 Blood pressure QTL 386 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD 10450794 Scl69 Serum cholesterol level QTL 69 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450804 Scl70 Serum cholesterol level QTL 70 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450806 Scl71 Serum cholesterol level QTL 71 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450808 Scl72 Serum cholesterol level QTL 72 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450811 Scl73 Serum cholesterol level QTL 73 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450813 Scl74 Serum cholesterol level QTL 74 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450816 Scl75 Serum cholesterol level QTL 75 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450818 Scl76 Serum cholesterol level QTL 76 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450821 Scl77 Serum cholesterol level QTL 77 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450825 Scl78 Serum cholesterol level QTL 78 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450828 Scl79 Serum cholesterol level QTL 79 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450831 Scl80 Serum cholesterol level QTL 80 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450852 Stl33 Serum triglyceride level QTL 33 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450854 Stl34 Serum triglyceride level QTL 34 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450856 Livw4 Liver weight QTL 4 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450862 Kidm55 Kidney mass QTL 55 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10450865 Bw175 Body weight QTL 175 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:10003 sensorineural hearing loss IAGP D RGD:6480217|PMID:21915282 20171206 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:10487 Hirschsprung's disease IAGP D RGD:6480215|PMID:22132166 20210218 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:10487 Hirschsprung's disease IAGP D RGD:6480217|PMID:21915282 20171206 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:614 lymphopenia IAGP D RGD:7207471|PMID:22975636 20171207 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480215|PMID:22132166 20210218 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480217|PMID:21915282 20210218 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9005027 Waardenburg Syndrome Type 4 IAGP D RGD:6480217|PMID:21915282 20210218 RGD 10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9005660 Hypopigmentation IAGP D RGD:10755346|PMID:26796131 20210218 RGD compared to AR-Ednrbsl/Hkv 10755430 Coatc6 Coat color QTL 6 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755434 Coatc7 Coat color QTL 7 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755436 Coatc8 Coat color QTL 8 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755438 Coatc9 Coat color QTL 9 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755440 Coatc10 Coat color QTL 10 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755451 Coatc11 Coat color QTL 11 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755453 Coatc12 Coat color QTL 12 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755455 Coatc13 Coat color QTL 13 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755457 Coatc14 Coat color QTL 14 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755459 Coatc15 Coat color QTL 15 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755461 Coatc16 Coat color QTL 16 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD 10755495 Bp387 Blood pressure QTL 387 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD 10755497 Bp388 Blood pressure QTL 388 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD 10755499 Bp389 Blood pressure QTL 389 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD 10755501 Bp390 Blood pressure QTL 390 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD 10755503 Bp391 Blood pressure QTL 391 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD 11040521 SHR-Ndufc2em2Mcwi-/+ SHR-Ndufc2em2Mcwi-/Ndufc2em2Mcwi+ strain DOID:9007096 Stroke induced IMP XCO:0000022, XCO:0000032, XCO:0000030 D RGD:11040458|PMID:26888427 20160812 RGD 11040962 F344-Bscl2m1Kyo strain DOID:14227 azoospermia IMP D RGD:11085488|PMID:25934999 20190109 RGD 11040962 F344-Bscl2m1Kyo strain DOID:9007692 Insulin Resistance IMP D RGD:11085488|PMID:25934999 20190109 RGD 11052049 LOC690813 Ig kappa chain V-IV region-like gene DOID:0080600 COVID-19 ISO RGD:1346817 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11081149 SD-Esr2em1Soar strain DOID:9007456 Female Infertility IMP D RGD:38548924|PMID:28520870 20200825 RGD 11081177 F344tl toothless (tl) strain DOID:13533 osteopetrosis IAGP D RGD:628338|PMID:12379742 20180430 RGD 11081177 F344tl toothless (tl) strain DOID:9007083 Edentulous Mouth IAGP D RGD:628338|PMID:12379742 20180430 RGD 11353947 Bp392 Blood pressure QTL 392 qtl DOID:10763 hypertension IAGP D RGD:11353859|PMID:27113531 20170424 RGD 11353949 Bp393 Blood pressure QTL 393 qtl DOID:10763 hypertension IAGP D RGD:11353859|PMID:27113531 20170424 RGD 11353951 Bp394 Blood pressure QTL 394 qtl DOID:10763 hypertension IAGP D RGD:11353859|PMID:27113531 20170424 RGD 11353957 Bmd92 Bone mineral density QTL 92 qtl DOID:11476 osteoporosis IAGP D RGD:11353859|PMID:27113531 20170424 RGD 11362385 Mindy4b MINDY family member 4B gene DOID:0050579 glycogen storage disease XV ISO RGD:2306135 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 11362919 Igkvl-ps13 immunoglobulin kappa variable like, pseudogene 13 gene DOID:0080600 COVID-19 ISO RGD:1349672 D RGD:9068941 20210730 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11368541 Pcdhb15 protocadherin beta 15 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11368541 Pcdhb15 protocadherin beta 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11368541 Pcdhb15 protocadherin beta 15 gene DOID:630 genetic disease ISO RGD:1314071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11368541 Pcdhb15 protocadherin beta 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11368541 Pcdhb15 protocadherin beta 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11376545 Pcdhb6l protocadherin beta-6-like gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321102 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11376545 Pcdhb6l protocadherin beta-6-like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11376545 Pcdhb6l protocadherin beta-6-like gene DOID:630 genetic disease ISO RGD:1321102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11376545 Pcdhb6l protocadherin beta-6-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321102 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11376545 Pcdhb6l protocadherin beta-6-like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11378340 Rtl1 retrotransposon-like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602404 D RGD:8554872 20160906 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 11378340 Rtl1 retrotransposon-like 1 gene DOID:630 genetic disease ISO RGD:1602404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11384366 Vps37c VPS37C subunit of ESCRT-I gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1605989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11384366 Vps37c VPS37C subunit of ESCRT-I gene DOID:1059 intellectual disability ISO RGD:1605989 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 11384366 Vps37c VPS37C subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11384727 Smim43 small integral membrane protein 43 gene DOID:630 genetic disease ISO RGD:1604239 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11384727 Smim43 small integral membrane protein 43 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1604239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11384727 Smim43 small integral membrane protein 43 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604239 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11384727 Smim43 small integral membrane protein 43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604239 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11394460 Znf660 zinc finger protein 660 gene DOID:630 genetic disease ISO RGD:1346042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11411272 C10h5orf58 similar to human chromosome 5 open reading frame 58 gene DOID:0111951 immunodeficiency 40 ISO RGD:3403707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 11411272 C10h5orf58 similar to human chromosome 5 open reading frame 58 gene DOID:630 genetic disease ISO RGD:3403707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:11553818|PMID:18412118 20170210 RGD DNA:mutations:cds:185delG,175-176insG,76C>T(human) 11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:7240710 20170210 OMIM 11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome PMID:16155570|PMID:18412118|PMID:25741868|PMID:28492532 11414885 Hoxa1 homeobox A1 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:737614 D RGD:11553826|PMID:14681917 20170210 RGD DNA:missense mutation:cds:218A>G(human) 11414885 Hoxa1 homeobox A1 gene DOID:1059 intellectual disability ISO RGD:737614 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11414885 Hoxa1 homeobox A1 gene DOID:12849 autistic disorder ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:11091361 11414885 Hoxa1 homeobox A1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737614 D RGD:1358730|PMID:14960295 20170210 RGD DNA:missense mutation:cds:p.H73R (human) 11414885 Hoxa1 homeobox A1 gene DOID:1682 congenital heart disease ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:21940751 11414885 Hoxa1 homeobox A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737614 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11414885 Hoxa1 homeobox A1 gene DOID:630 genetic disease ISO RGD:737614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11414885 Hoxa1 homeobox A1 gene DOID:9003270 Microtia-Anotia ISO RGD:13932952 D RGD:9068941 20210604 OMIA Microtia PMID:26035869 11414885 Hoxa1 homeobox A1 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:737614 D RGD:8554872 20170210 ClinVar ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate 11414885 Hoxa1 homeobox A1 gene DOID:9006534 Nervous System Malformations ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 11414885 Hoxa1 homeobox A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 11422907 Hs3st4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1352921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11422907 Hs3st4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:670 amphetamine abuse ISO RGD:1352921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:1059 intellectual disability ISO RGD:1344193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1344193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:630 genetic disease ISO RGD:1344193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11425406 LOC108351365 uncharacterized LOC108351365 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:16552593 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 11425406 LOC108351365 uncharacterized LOC108351365 gene DOID:12849 autistic disorder ISO RGD:16552593 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11426996 Mymx myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:7240710 20220706 OMIM 11426996 Mymx myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 11434685 Evx1 even-skipped homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344299 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11434685 Evx1 even-skipped homeobox 1 gene DOID:630 genetic disease ISO RGD:1344299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11436011 LOC108348090 zinc finger protein OZF-like gene DOID:630 genetic disease ISO RGD:1603830 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11436036 Prss48 serine protease 48 gene DOID:4990 essential tremor ISO RGD:1605534 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 11436036 Prss48 serine protease 48 gene DOID:630 genetic disease ISO RGD:1605534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11436072 Flywch2 FLYWCH family member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11436072 Flywch2 FLYWCH family member 2 gene DOID:1826 epilepsy ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11436072 Flywch2 FLYWCH family member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11436072 Flywch2 FLYWCH family member 2 gene DOID:630 genetic disease ISO RGD:1602659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11442159 Spacdr sperm acrosome developmental regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602147 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11443615 Arih2os ARIH2 opposite strand lncRNA gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:2298738 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 11443615 Arih2os ARIH2 opposite strand lncRNA gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:2298738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11451771 Dmrtc1a DMRT-like family C1a gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346508 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11451771 Dmrtc1a DMRT-like family C1a gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1346508 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 11451771 Dmrtc1a DMRT-like family C1a gene DOID:12849 autistic disorder ISO RGD:1346508 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11451771 Dmrtc1a DMRT-like family C1a gene DOID:630 genetic disease ISO RGD:1346508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11451771 Dmrtc1a DMRT-like family C1a gene DOID:8445 intestinal volvulus ISO RGD:1346508 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11451771 Dmrtc1a DMRT-like family C1a gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346508 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601807 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:1059 intellectual disability ISO RGD:1601807 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:630 genetic disease ISO RGD:1601807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11463329 Gng5-ps4 G protein subunit gamma 5, pseudogene 4 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1626539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11463329 Gng5-ps4 G protein subunit gamma 5, pseudogene 4 gene DOID:12849 autistic disorder ISO RGD:1626539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11463329 Gng5-ps4 G protein subunit gamma 5, pseudogene 4 gene DOID:5419 schizophrenia ISO RGD:1626539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11468112 Hoxa2 homeobox A2 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:1353431 D RGD:8554872 20170210 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome 11468112 Hoxa2 homeobox A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353431 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11468112 Hoxa2 homeobox A2 gene DOID:630 genetic disease ISO RGD:1353431 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11468112 Hoxa2 homeobox A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353431 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 11468112 Hoxa2 homeobox A2 gene DOID:9001502 Congenital Microtia ISO RGD:1353431 D RGD:11553827|PMID:18394579 20170210 RGD DNA:missense mutation:cds:c.558C>A(p.Q186K)(human) 11468112 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 11468112 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:7240710 20170210 OMIM 11468112 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate PMID:18394579|PMID:23775976|PMID:25691070|PMID:25741868 11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:5812 MHC class II deficiency ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354484 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11469551 Fam180b family with sequence similarity 180 member B gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:2298817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 11469551 Fam180b family with sequence similarity 180 member B gene DOID:1059 intellectual disability ISO RGD:2298817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 11469551 Fam180b family with sequence similarity 180 member B gene DOID:630 genetic disease ISO RGD:2298817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11470817 Krtap9-1-ps1 keratin associated protein 9-1, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1343161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11472061 Hhla2 HHLA2 member of B7 family gene DOID:630 genetic disease ISO RGD:1350112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11474175 Vsig10l2 V-set and immunoglobulin domain containing 10 like 2 gene DOID:5419 schizophrenia ISO RGD:12801887 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11479453 Soga3 SOGA family member 3 gene DOID:630 genetic disease ISO RGD:1347447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11479453 Soga3 SOGA family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347447 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11492646 Pcdhb16 protocadherin beta 16 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343753 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11492646 Pcdhb16 protocadherin beta 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11492646 Pcdhb16 protocadherin beta 16 gene DOID:630 genetic disease ISO RGD:1343753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11492646 Pcdhb16 protocadherin beta 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343753 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11492646 Pcdhb16 protocadherin beta 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11496573 Gpr32 G protein-coupled receptor 32 gene DOID:0060041 autism spectrum disorder ISO RGD:1343074 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11496573 Gpr32 G protein-coupled receptor 32 gene DOID:630 genetic disease ISO RGD:1343074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11496771 Smim40 small integral membrane protein 40 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:14700595 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 11498829 Eps8l3 EPS8 like 3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:7240710 20200408 OMIM 11498829 Eps8l3 EPS8 like 3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Hypotrichosis 5 PMID:15347323|PMID:23099647|PMID:25741868 11498829 Eps8l3 EPS8 like 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1318007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11498829 Eps8l3 EPS8 like 3 gene DOID:12849 autistic disorder ISO RGD:1318007 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11498829 Eps8l3 EPS8 like 3 gene DOID:630 genetic disease ISO RGD:1318007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11498829 Eps8l3 EPS8 like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318007 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11498829 Eps8l3 EPS8 like 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318007 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:19223546 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:2717 Bloom syndrome ISO RGD:1606331 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1606331 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9000998 Brain Injuries IEP D RGD:10401136|PMID:24385964 20170210 RGD 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1606331 D RGD:10401133|PMID:19054144 20170210 RGD 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9004590 Acute Liver Failure ISO RGD:1606331 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9006205 Animal Disease Models ISO RGD:1606331 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606331 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9256 colorectal cancer ISO RGD:1606331 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11530004 Niddm71 Non-insulin dependent diabetes mellitus QTL 71 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:11528530|PMID:27463508 20170424 RGD 11530006 Niddm72 Non-insulin dependent diabetes mellitus QTL 72 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:11528530|PMID:27463508 20170424 RGD 11530008 CDS.CDR-(D4Rat9-D4Rat153)/Ygl strain DOID:9352 type 2 diabetes mellitus onset IAGP D RGD:11528530|PMID:27463508 20160818 RGD 11530011 CDS.SBN-(D13Rat85-D13Mit4)/Ygl strain DOID:9352 type 2 diabetes mellitus MODEL: disease progression IAGP D RGD:11528530|PMID:27463508 20160818 RGD 11531091 SD-F8em1Sage-/-/Novo strain DOID:12134 factor VIII deficiency MODEL: spontaneous IMP D RGD:11530071|PMID:24931420 20160825 RGD 11531091 SD-F8em1Sage-/-/Novo strain DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD 11531091 SD-F8em1Sage-/-/Novo strain DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD 11531091 SD-F8em1Sage-/-/Novo strain DOID:9004755 Hemophilic Arthropathy treatment IMP D RGD:150520059|PMID:27060449 20211026 RGD 11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:12134 factor VIII deficiency IMP D RGD:11530071|PMID:24931420 20190711 RGD 11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211028 RGD 11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211028 RGD 11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:9004755 Hemophilic Arthropathy treatment IMP D RGD:150520059|PMID:27060449 20211028 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:2237 hepatitis IAGP D RGD:1302497|PMID:3429843 20201210 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:2237 hepatitis IAGP D RGD:25823153|PMID:3392951 20201210 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:2697 renal adenoma IAGP D RGD:1302456|PMID:11509115 20201214 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:684 hepatocellular carcinoma onset IAGP D RGD:15036817|PMID:8291609 20201210 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:686 liver carcinoma IAGP D RGD:1302456|PMID:11509115 20201214 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:2292672|PMID:17303181 20170628 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:25823141|PMID:30733544 20201210 RGD compared to LEA/Hok 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:25823154|PMID:1561010 20201210 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:35316074|PMID:24358170 20201210 RGD compared to LEA/Hok 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:631728|PMID:7951327 20170628 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:9004590 Acute Liver Failure IAGP D RGD:15036817|PMID:8291609 20201210 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:9007188 Liver Neoplasms IAGP D RGD:1302456|PMID:11509115 20201214 RGD 11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:9007188 Liver Neoplasms onset IAGP D RGD:1302456|PMID:11509115 20210218 RGD compared to LEC/Tj; 11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:0080322 polycystic kidney disease IAGP D RGD:1300446|PMID:7933831 20170412 RGD 11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:0080322 polycystic kidney disease IMP D RGD:7207426|PMID:21119215 20160919 RGD 11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:4676 uremia IAGP D RGD:1300446|PMID:7933831 20210211 RGD 11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:576 proteinuria IAGP D RGD:1300446|PMID:7933831 20210211 RGD 11535000 PKD/Mhm PKD strain DOID:0080322 polycystic kidney disease MODEL: spontaneous IAGP D RGD:11534987|PMID:16207829 20160919 RGD 11535031 SD-Tg(hCMV-Anks6PKD)Mhm strain DOID:0080322 polycystic kidney disease MODEL: spontaneous IMP D RGD:7207426|PMID:21119215 20160919 RGD 11535943 Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:70439|PMID:11919560 20160923 RGD 11535955 Crlj:CD(SD) strain DOID:8947 diabetic retinopathy MODEL: control IAGP D RGD:628479|PMID:11469401 20200130 RGD compared to SDT/Jcl 11535955 Crlj:CD(SD) strain DOID:9351 diabetes mellitus MODEL: control IAGP D RGD:628479|PMID:11469401 20200130 RGD compared to SDT/Jcl 11553911 Trpc6em1Mcwi transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin gene DOID:9002165 Diabetic Nephropathies induces IAGP XCO:0000245,XCO:0000241 D RGD:149735534|PMID:29923767 20210729 RGD 11553912 SS-Trpc6em1Mcwi strain DOID:9002165 Diabetic Nephropathies induces IAGP XCO:0000245,XCO:0000241 D RGD:149735534|PMID:29923767 20210726 RGD 11553913 Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin gene DOID:0050851 glomerulosclerosis ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD 11553913 Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin gene DOID:9001542 Albuminuria ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD 11553914 SS-Shc1em4Mcwi strain DOID:0050851 glomerulosclerosis ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD compared to SS/JrHsdMcwi 11553914 SS-Shc1em4Mcwi strain DOID:9001542 Albuminuria ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD compared to SS/JrHsdMcwi 11553915 Shc1em5Mcwi SHC adaptor protein 1; ZFN induced mutant 5, Medical College of Wisconsin gene DOID:9003234 Hypertensive Nephropathy IMP D RGD:12792230|PMID:27270176 20200131 RGD 11553916 SS-Shc1em5Mcwi strain DOID:9003234 Hypertensive Nephropathy induced IMP XCO:0000022 D RGD:12792230|PMID:27270176 20200131 RGD 11554327 BDIX.BDIV-D10Mit3-D10Mgh16/Zte strain DOID:3192 neurilemmoma resistant IAGP D RGD:11554205|PMID:26530423 20161026 RGD 11554329 BDIX.BDIV-D10Got1-D10Rat45/Zte strain DOID:3192 neurilemmoma resistant IAGP D RGD:11554205|PMID:26530423 20161026 RGD 11564348 Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo gene DOID:4990 essential tremor IGI RGD:150429632 D RGD:150429620|PMID:32507787 20220225 RGD 11564348 Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo gene DOID:9000495 Tremor IMP D RGD:13464274|PMID:27026062 20180103 RGD associated with Hcn1A354V allele 11564350 SCR/Sscr Shumiya Cataract Rat strain DOID:83 cataract IAGP D RGD:1626611|PMID:16440058 20210521 RGD 11565090 Ccdc85cem1Kyo coiled-coil domain containing 85C; TALEN induced mutant1,Kyo gene DOID:10908 hydrocephalus IMP D RGD:150520163|PMID:31341137 20211104 RGD 11565091 F344-Ccdc85cem1Kyo strain DOID:10908 hydrocephalus IMP D RGD:150520163|PMID:31341137 20211028 RGD 11567272 SD-Mecp2em1Sage strain DOID:1206 Rett syndrome IMP D RGD:11568037|PMID:27313794 20210318 RGD 11568035 Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:1206 Rett syndrome IMP D RGD:11568037|PMID:27313794 20210325 RGD 11568040 SD-Fmr1em1Sage strain DOID:0060041 autism spectrum disorder MODEL IMP D RGD:9831152|PMID:24773431 20170921 RGD 11568040 SD-Fmr1em1Sage strain DOID:14261 fragile X syndrome MODEL IMP D RGD:38548926|PMID:27465362 20200922 RGD compared to SD control;DNA:deletion:intron 7, exon 8: 11568040 SD-Fmr1em1Sage strain DOID:14261 fragile X syndrome MODEL IMP D RGD:38548928|PMID:30877790 20200922 RGD compared to SD control;DNA:deletion:intron 7, exon 8: 11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:9831152|PMID:24773431 20170921 RGD 11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14261 fragile X syndrome IMP D RGD:38548926|PMID:27465362 20200922 RGD DNA:deletion:intron 7, exon 8: 11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14261 fragile X syndrome IMP D RGD:38548928|PMID:30877790 20201210 RGD compared to SD control;DNA:deletion:intron 7, exon 8: 11568058 SD-Nrxn1em1Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:12914797|PMID:25420124 20210521 RGD 11568059 Nrxn1em1 neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:12914797|PMID:25420124 20210527 RGD 11568646 SD-Cntnap2em1Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:126790476|PMID:30126973 20210422 RGD 11568646 SD-Cntnap2em1Sage strain DOID:11832 visual epilepsy IMP D RGD:12880397|PMID:28364455 20170505 RGD 11568647 Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:126790476|PMID:30126973 20210429 RGD 11568647 Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:11832 visual epilepsy IMP D RGD:12880397|PMID:28364455 20170505 RGD 11568700 SD-Nlgn3em1Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:126790492|PMID:28958035 20210423 RGD 11568700 SD-Nlgn3em1Sage strain DOID:0060041 autism spectrum disorder MODEL IMP D RGD:9831152|PMID:24773431 20170921 RGD 11568701 Nlgn3em1Sage neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:126790492|PMID:28958035 20210429 RGD 11568701 Nlgn3em1Sage neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:9831152|PMID:24773431 20170921 RGD 11570416 Krt71Rex keratin 71; autosomal dominant Rex gene DOID:987 alopecia IAGP D RGD:11570415|PMID:20179389 20211028 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del 11667077 SD-Esr2em2Soar strain DOID:9007456 Female Infertility IMP D RGD:38548924|PMID:28520870 20200825 RGD 11667081 BDIV-Myo5a/StcRrrc strain DOID:0050890 synucleinopathy IAGP D RGD:42721980|PMID:29217155 20210302 RGD compared to control BD-IV 11667081 BDIV-Myo5a/StcRrrc strain DOID:0050890 synucleinopathy IAGP D RGD:42722007|PMID:22639889 20210301 RGD compared to control BD-IV 11667081 BDIV-Myo5a/StcRrrc strain DOID:0050890 synucleinopathy MODEL: spontaneous IAGP D RGD:41412185|PMID:27771352 20210302 RGD compared to control BD-IV 11667088 SD-Esr1em1Soar strain DOID:5223 infertility IMP D RGD:8552987|PMID:24506075 20170623 RGD 124713544 W-Cyp27b1em1Thka strain DOID:0080886 vitamin D-dependent rickets type 1A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210323 RGD 124713545 Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka gene DOID:0080886 vitamin D-dependent rickets type 1A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD 124713546 W-Vdrem1Thka strain DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210323 RGD 124713547 Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka gene DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD 124713548 W-Vdrem2Thka strain DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210323 RGD compared to untreated Vdr mutant 124713550 Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka gene DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD compared to untreated vdr KO 124715480 Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe gene DOID:14261 fragile X syndrome IMP D RGD:38501107|PMID:28894415 20210329 RGD 126777684 WI-Mkxem1Asah strain DOID:9003295 Heterotopic Ossification IMP D RGD:40924660|PMID:27370800 20210409 RGD compared to Wistar 126777685 Mkxem1Asah mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah gene DOID:9003295 Heterotopic Ossification IMP D RGD:40924660|PMID:27370800 20210415 RGD compared to Wistar 126777687 WKY-Dnd1ter/Ztm strain DOID:3305 teratocarcinoma IAGP D RGD:40924659|PMID:22655094 20210412 RGD compared to WKY 126779578 LOU/MWsl strain DOID:3720 extramedullary plasmacytoma MODEL: induced IAGP D RGD:39938850|PMID:6744286 20201014 RGD 126779578 LOU/MWsl strain DOID:3720 extramedullary plasmacytoma MODEL: induced IAGP XCO:0000779 D RGD:125093741|PMID:6585590 20210330 RGD rat IgM immunocytoma cells from LOU/C 126779578 LOU/MWsl strain DOID:3720 extramedullary plasmacytoma treatment IAGP D RGD:39938850|PMID:6744286 20201014 RGD 126779578 LOU/MWsl strain DOID:9001542 Albuminuria induced IAGP D RGD:45073132|PMID:3456068 20210312 RGD 126779578 LOU/MWsl strain DOID:9006810 Drug-Related Side Effects and Adverse Reactions induced IAGP D RGD:45073132|PMID:3456068 20210312 RGD 126779591 SD-Csf1rtm(EGFP)-/-/Tset strain DOID:0080006 bone development disease IMP D RGD:41404725|PMID:30249809 20210413 RGD 126779591 SD-Csf1rtm(EGFP)-/-/Tset strain DOID:5223 infertility IMP D RGD:41404725|PMID:30249809 20210413 RGD 126779591 SD-Csf1rtm(EGFP)-/-/Tset strain DOID:614 lymphopenia IMP D RGD:41404725|PMID:30249809 20210413 RGD 126781692 Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset gene DOID:0080006 bone development disease IMP D RGD:41404725|PMID:30249809 20210416 RGD 126781692 Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset gene DOID:5223 infertility IMP D RGD:41404725|PMID:30249809 20210416 RGD 126781692 Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset gene DOID:614 lymphopenia IMP D RGD:41404725|PMID:30249809 20210416 RGD 126790464 SD-Ube3aem1Jue strain DOID:1932 Angelman syndrome IMP D RGD:126790466|PMID:32066685 20210422 RGD 126790465 Ube3aem1Jue ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue gene DOID:1932 Angelman syndrome IMP D RGD:126790466|PMID:32066685 20210429 RGD 126790496 SD-Shank2em13Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:126790534|PMID:29970986 20210426 RGD 126790499 Shank2em13Sage SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage gene DOID:0060041 autism spectrum disorder IMP D RGD:126790534|PMID:29970986 20210429 RGD 126848737 WI- Msh6m1Hubr strain DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IMP D RGD:2292505|PMID:18417481 20210428 RGD 126848737 WI- Msh6m1Hubr strain DOID:9000027 Microsatellite Instability IMP D RGD:2292505|PMID:18417481 20210428 RGD 126848738 Msh6m1Hubr mutS homolog 6; ENU induced mutant 1, Hubr gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IMP D RGD:2292505|PMID:18417481 20210429 RGD 126848738 Msh6m1Hubr mutS homolog 6; ENU induced mutant 1, Hubr gene DOID:9000027 Microsatellite Instability IMP D RGD:2292505|PMID:18417481 20210429 RGD 126848793 SS-Gper1em1Bj-/- strain DOID:9007204 Dysbiosis ameliorates IMP D RGD:39939000|PMID:30354811 20220204 RGD 126848804 F344-Trpc4Tn(sb)1Bni strain DOID:9001820 Pulmonary Arterial Hypertension ameliorates IMP XCO:0000010|XCO:0000922 D RGD:150429956|PMID:24113457 20220125 RGD 126848808 Trpc4Tn(sb)Tngen transient receptor potential cation channel, subfamily C, member 4; sleeping beauty induced mutant, Tngen gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates IMP XCO:0000010|XCO:0000922 D RGD:150429956|PMID:24113457 20220210 RGD 126908010 SD-Kcnk3em1Ang-/- strain DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220127 RGD 126908013 SD-Kcnk3em1Ang-/+ strain DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220127 RGD 126908015 Kcnk3em1Ang potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang gene DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220203 RGD 126925134 SD-Il36rntm1(Myh6-cre)Mhzh strain DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210513 RGD 126925135 SD-Il1rl2tm1(Myh6-cre)Mhzh strain DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210513 RGD compared to Wild Type in cardiopulmonary bypass model 126925138 SD-Ubdem1 strain DOID:5844 myocardial infarction IMP D RGD:126925221|PMID:29438664 20210518 RGD associated with induced myocardial infarction 126925159 Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210520 RGD compared to Wild Type in cardiopulmonary bypass model 126925161 Il36rntm1(Myh6-cre)Mhzh interleukin 36 receptor antagonist; tm1, Mhzh gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210520 RGD 126925166 Ubdem1 ubiquitin D; CRISPR/Cas9 induced mutant1 gene DOID:5844 myocardial infarction IMP D RGD:126925221|PMID:29438664 20210520 RGD associated with induced myocardial infarction 126925756 SD-Cryba1Nuc1Dbsa strain DOID:10629 microphthalmia IMP D RGD:126925760|PMID:15721615 20210519 RGD 126925756 SD-Cryba1Nuc1Dbsa strain DOID:83 cataract IMP D RGD:126925760|PMID:15721615 20210519 RGD 126925756 SD-Cryba1Nuc1Dbsa strain DOID:83 cataract IMP D RGD:2303652|PMID:17931883 20210519 RGD 126925756 SD-Cryba1Nuc1Dbsa strain DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium IMP D RGD:126925759|PMID:21266465 20210519 RGD 126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:10629 microphthalmia IMP D RGD:126925760|PMID:15721615 20210520 RGD 126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:83 cataract IMP D RGD:126925760|PMID:15721615 20210520 RGD 126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:83 cataract IMP D RGD:2303652|PMID:17931883 20210520 RGD 126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium IMP D RGD:126925759|PMID:21266465 20210520 RGD 126925949 SD-Myh7bem1Blar+/- strain DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210816 RGD 126925952 SD-Myh7bem1Blar-/- strain DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210816 RGD 126925953 Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar gene DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210819 RGD 126925978 SD-Ercc6em1Cgen strain DOID:0080908 Cockayne syndrome B IMP D RGD:126925983|PMID:31644904 20210525 RGD 126925980 Ercc6em1Cgen ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen gene DOID:0080908 Cockayne syndrome B IMP D RGD:126925983|PMID:31644904 20210527 RGD 126925992 SD-Cftrem1Ang strain DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210526 RGD 126925992 SD-Cftrem1Ang strain DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210526 RGD 126925993 Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang gene DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210527 RGD 126925993 Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang gene DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210527 RGD 126925994 SD-Cftrem2Ang strain DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210526 RGD 126925994 SD-Cftrem2Ang strain DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210526 RGD 126925995 Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang gene DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210527 RGD 126925995 Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang gene DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210527 RGD 126928146 ACI.Cg.-Cdkn1bem1Musc strain DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210607 RGD 126928146 ACI.Cg.-Cdkn1bem1Musc strain DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210607 RGD 126928147 Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc gene DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210610 RGD 126928147 Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc gene DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210610 RGD 126928150 ACI.Cg.-Cdkn1bem4Musc strain DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210607 RGD 126928150 ACI.Cg.-Cdkn1bem4Musc strain DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210607 RGD 126928151 Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc gene DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210610 RGD 126928151 Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc gene DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210610 RGD 127228636 CVCL_A6JK NU-RMESO-9 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228637 CVCL_A6JJ NU-RMESO-2 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228638 CVCL_A6JM NU-RMESO-20 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228639 CVCL_A6JL NU-RMESO-14 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228640 CVCL_A6JN NU-RMESO-26 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228641 CVCL_A6JQ NU-RMESO-79 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228642 CVCL_A6JP NU-RMESO-40 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453 127228718 CVCL_A6IM FRA cell line DOID:9004547 Thyroid Neoplasms IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C179056 127228813 CVCL_A6UV RMM-A1 cell line DOID:1909 melanoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60451 127228814 CVCL_A6UU RMM-C cell line DOID:1909 melanoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60451 127228816 CVCL_A6UW RMM-CAF cell line DOID:1909 melanoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60451 127229263 CVCL_A7QC RIN-AhGh cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566 127229265 CVCL_A7QE RIN 1046-44 cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566 127229266 CVCL_A7QD RIN-AhLh cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566 127229267 CVCL_A7QG RIN-5AH-T2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566 127229268 CVCL_A7QF RIN 1046-43 cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566 127229869 CVCL_A7AK TSD-B4S cell line DOID:5563 malignant teratoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60468 127229871 CVCL_A7AM TSD-P cell line DOID:5563 malignant teratoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60468 127229872 CVCL_A7AL TSD-F9R cell line DOID:5563 malignant teratoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60468 127284883 SD-Aqp4em1Hrt strain DOID:9000438 Subarachnoid Hemorrhage exacerbates IMP D RGD:127284879|PMID:33574749 20220117 RGD 127284884 Aqp4em1Hrt aquaporin 4; TALEN induced mutant 1, Hrt gene DOID:9000438 Subarachnoid Hemorrhage exacerbates IMP D RGD:127284879|PMID:33574749 20220120 RGD 127285380 SD-Mir31em1Sage strain DOID:3748 esophagus squamous cell carcinoma ameliorates IMP D RGD:127285381|PMID:32123074 20220117 RGD 127285810 SD-Trpa1em1Gne strain DOID:2841 asthma severity IMP D RGD:127285811|PMID:31969645 20210702 RGD ovalbumin sensitization 127285812 Trpa1em1Gne transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne gene DOID:2841 asthma severity IMP D RGD:127285811|PMID:31969645 20210708 RGD ovalbumin sensitization 127338473 WM/Nem strain DOID:9007337 Teratogenesis susceptibility IAGP D RGD:149735899|PMID:3347907 20211223 RGD 127338474 BDIX/Nem strain DOID:9007337 Teratogenesis susceptibility IAGP D RGD:149735899|PMID:3347907 20211223 RGD 127345097 SD-Muc1em1Cgen strain DOID:4481 allergic rhinitis severity IMP D RGD:127345100|PMID:31425778 20210709 RGD 127345099 Muc1em1Cgen mucin 1, cell surface associated; TALEN induced mutant 1, Cgen gene DOID:4481 allergic rhinitis severity IMP D RGD:127345100|PMID:31425778 20210715 RGD 12738218 SD-GEPR-9 strain DOID:9009159 Audiogenic Epilepsy induced IAGP D RGD:13450925|PMID:21458955 20210108 RGD 12738218 SD-GEPR-9 strain DOID:9009159 Audiogenic Epilepsy induced IAGP D RGD:724734|PMID:3596061 20210111 RGD 12738372 BDIX.BDIV-D6Mit1-D6Mgh2/Zte strain DOID:5940 malignant peripheral nerve sheath tumor sexual_dimorphism IAGP D RGD:11556249|PMID:21427360 20211222 RGD 12790721 SS.BN-(D13Rat151-D13Rat197)-Serpinc1em2Mcwi strain DOID:9006223 Kidney Reperfusion Injury IMP D RGD:11354006|PMID:26108065 20170310 RGD 12790722 Serpinc1em2Mcwi serpin family C member 1; ZFN induced mutant 2, Medical College of Wisconsin gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:11354006|PMID:26108065 20170515 RGD 12791992 Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub gene DOID:0110231 cataract 1 multiple types IAGP D RGD:2293186|PMID:18470322 20170412 RGD 12791992 Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub gene DOID:10629 microphthalmia IAGP D RGD:2293186|PMID:18470322 20170412 RGD 12792252 Apcm1Kyo APC, WNT signaling pathway regulator; mutant 1, Kyo gene DOID:219 colon cancer IAGP D RGD:12792250|PMID:19694754 20170411 RGD 12792283 Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo gene DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20170411 RGD 12792284 Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo gene DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20170411 RGD 12792962 Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, gene DOID:9007090 Experimental Seizures IMP D RGD:12792961|PMID:27265781 20170410 RGD 12792963 Lepm1Kyo leptin; ENU induced mutant1, Kyo gene DOID:9007692 Insulin Resistance IMP D RGD:8549777|PMID:23800849 20170410 RGD 12792963 Lepm1Kyo leptin; ENU induced mutant1, Kyo gene DOID:9970 obesity IMP D RGD:8549777|PMID:23800849 20170410 RGD 12792967 ArsbMPR arylsulfatase B; MPR mutant gene DOID:12800 mucopolysaccharidosis VI IAGP D RGD:631738|PMID:8575749 20170410 RGD 12792970 Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo gene DOID:1826 epilepsy IMP D RGD:12792971|PMID:22589250 20170410 RGD DNA:missense mutation:cds:p.L385R (c.1154T>G) 12792970 Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo gene DOID:7725 epilepsy with generalized tonic-clonic seizures IMP D RGD:14995940|PMID:30813600 20200130 RGD 12792972 Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo gene DOID:9001386 Albinism IMP D RGD:12792973|PMID:23409244 20170410 RGD 12793071 Mrs2dmyKyo MRS2 magnesium transporter; demyelination mutant, Kyo gene DOID:3213 demyelinating disease IAGP D RGD:12793070|PMID:21253565 20180525 RGD DNA:missense mutation:intron(rat) 12798532 SS.BN-(D13Hmgc40-D13Got22)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD 12798533 SS.BN-(D13Hmgc85-D13Got22)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD 12798534 SS.BN-(D13Rat77-D13Got22)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD 12798535 SS.BN-(D13Rat111-D13Rat115)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD 12798536 SS.BN-(D13Rat111-D13Hmgc86)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD 12798537 SS.BN-(D13Rat111-D13Rat20)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD 12798560 Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo gene DOID:0060013 X-linked severe combined immunodeficiency IMP D RGD:2316325|PMID:20111598 20201210 RGD 12798560 Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo gene DOID:628 combined T cell and B cell immunodeficiency IMP D RGD:2316325|PMID:20111598 20170608 RGD 12798561 Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo gene DOID:0060013 X-linked severe combined immunodeficiency IMP D RGD:2316325|PMID:20111598 20201210 RGD 12798561 Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo gene DOID:628 combined T cell and B cell immunodeficiency IMP D RGD:2316325|PMID:20111598 20170608 RGD 12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:10763 hypertension IAGP D RGD:1581602|PMID:16368876 20170411 RGD 12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:2843 long QT syndrome IAGP D RGD:1581602|PMID:16368876 20200124 RGD 12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:9001295 Achlorhydria IAGP D RGD:1581602|PMID:16368876 20170411 RGD 12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:9008681 Deafness IAGP D RGD:1581602|PMID:16368876 20170411 RGD 12802346 Plp1md proteolipid protein 1; Myelin-deficient gene DOID:11832 visual epilepsy IAGP D RGD:1358781|PMID:2479544 20170412 RGD 12802346 Plp1md proteolipid protein 1; Myelin-deficient gene DOID:3213 demyelinating disease IAGP D RGD:1358781|PMID:2479544 20170412 RGD 12802351 Mbpmd myelin basic protein; myelin deficient gene DOID:3213 demyelinating disease IAGP D RGD:1358763|PMID:10212300 20170412 RGD 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:0080547 non-alcoholic steatohepatitis induced IAGP XCO:0000025, XCO:0000246,XCO:0000164 D RGD:21076282|PMID:20606728 20200313 RGD compared to standard diet rats 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:2018 hyperinsulinism MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to SHRSP/Izm 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9000808 Hypercholesterolemia MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to SHRSP/Izm 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9000808 Hypercholesterolemia induced IAGP XCO:0000025, XCO:0000246,XCO:0000164 D RGD:21076282|PMID:20606728 20200313 RGD compared to standard diet rats 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9007692 Insulin Resistance IAGP D RGD:12859275|PMID:25961052 20170414 RGD compared to wt homozygotes 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:12859276|PMID:23671847 20170414 RGD compared to fa/+ heterozygotes 12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to SHRSP/Izm 12859279 Ho:ZFDM-Leprfa Zucker Fatty Diabetes Mellitus rats strain DOID:9007692 Insulin Resistance IAGP D RGD:12859275|PMID:25961052 20170414 RGD compared to fa/+ heterozygotes 12859279 Ho:ZFDM-Leprfa Zucker Fatty Diabetes Mellitus rats strain DOID:9970 obesity IAGP D RGD:12859276|PMID:23671847 20200320 RGD compared to fa/+ heterozygotes 12859287 ZDF-Leprfa/Drt Zucker Diabetic Fatty Rat strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:1354693|PMID:15319354 20200306 RGD 12879394 F344-Atmm1Kyo Atm missense rats strain DOID:0060058 lymphoma IMP D RGD:12879393|PMID:27895165 20170418 RGD 12879394 F344-Atmm1Kyo Atm missense rats strain DOID:14566 disease of cellular proliferation IMP D RGD:12879393|PMID:27895165 20170418 RGD 12879394 F344-Atmm1Kyo Atm missense rats strain DOID:5223 infertility IMP D RGD:12879393|PMID:27895165 20170418 RGD 12879395 Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo gene DOID:0060058 lymphoma IMP D RGD:12879393|PMID:27895165 20230119 RGD 12879395 Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo gene DOID:14566 disease of cellular proliferation IMP D RGD:12879393|PMID:27895165 20230119 RGD 12879395 Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo gene DOID:5223 infertility IMP D RGD:12879393|PMID:27895165 20170418 RGD 12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:0060058 lymphoma IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:1240 leukemia IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:12704 ataxia telangiectasia IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:14566 disease of cellular proliferation IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:5223 infertility IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:0060058 lymphoma IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:1240 leukemia IMP D RGD:12879399|PMID:28007901 20230117 RGD 12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:12704 ataxia telangiectasia IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:14566 disease of cellular proliferation IMP D RGD:12879399|PMID:28007901 20230119 RGD 12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:5223 infertility IMP D RGD:12879399|PMID:28007901 20170418 RGD 12879506 Pur33 Proteinuria QTL 33 qtl DOID:576 proteinuria IAGP D RGD:11353859|PMID:27113531 20170424 RGD 12879830 Bw178 Body weight QTL 178 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879831 Cm82 Cardiac mass QTL 82 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879832 Cm83 Cardiac mass QTL 83 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879833 Cm84 Cardiac mass QTL 84 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879834 Am1 Aortic mass QTL 1 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879835 Kidm60 Kidney mass QTL 60 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12879836 Kidm61 Kidney mass QTL 61 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879837 Am2 Aortic mass QTL 2 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879838 Cm86 Cardiac mass QTL 86 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879839 Cm85 Cardiac mass QTL 85 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879840 Bw179 Body weight QTL 179 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879841 Cm87 Cardiac mass QTL 87 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879842 Cm88 Cardiac mass QTL 88 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879843 Am3 Aortic mass QTL 3 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879844 Kidm62 Kidney mass QTL 62 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD 12879849 Bw180 Body weight QTL 180 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879850 Cm91 Cardiac mass QTL 91 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879851 Cm92 Cardiac mass QTL 92 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879852 Cm93 Cardiac mass QTL 93 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879853 Am5 Aortic mass QTL 5 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879854 Kidm63 Kidney mass QTL 63 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:12880373|PMID:3366187 20170503 RGD 12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:730133|PMID:11089535 20170503 RGD 12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:1459 hypothyroidism IAGP D RGD:730133|PMID:11089535 20210930 RGD compared to wild type and heterozygotes 12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:1459 hypothyroidism treatment IAGP D RGD:150429798|PMID:16365524 20210930 RGD 12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:9007661 Dwarfism IAGP D RGD:13605608|PMID:10760744 20201210 RGD 12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:9007661 Dwarfism treatment IAGP D RGD:150429798|PMID:16365524 20210930 RGD 12879863 Bp402 Blood pressure QTL 402 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879871 Am7 Aortic mass QTL 7 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879872 Cm97 Cardiac mass QTL 97 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879873 Cm96 Cardiac mass QTL 96 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879874 Cm98 Cardiac mass QTL 98 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879875 Kidm64 Kidney mass QTL 64 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879878 Bw183 Body weight QTL 183 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879879 Cm99 Cardiac mass QTL 99 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879880 Cm100 Cardiac mass QTL 100 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879881 Cm101 Cardiac mass QTL 101 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12879882 Am8 Aortic mass QTL 8 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12879883 Kidm65 Kidney mass QTL 65 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD 12880021 SD-Apoeem1Sage strain DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211108 RGD 12880022 Apoeem1Sage apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211111 RGD 12880023 Bw184 Body weight QTL 184 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20080418 RGD 12880025 Cm102 Cardiac mass QTL 102 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20080418 RGD 12880028 Cm103 Cardiac mass QTL 103 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170502 RGD 12880032 Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang gene DOID:11723 Duchenne muscular dystrophy IMP D RGD:12880034|PMID:25310701 20170502 RGD 12880032 Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang gene DOID:12930 dilated cardiomyopathy IMP D RGD:12880034|PMID:25310701 20170502 RGD 12880032 Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang gene DOID:9003139 Cardiac Fibrosis IMP D RGD:12880034|PMID:25310701 20170502 RGD 12880037 SD-Dmdem1Ang strain DOID:11723 Duchenne muscular dystrophy MODEL: spontaneous IMP D RGD:12880034|PMID:25310701 20170502 RGD 12880037 SD-Dmdem1Ang strain DOID:12930 dilated cardiomyopathy IMP D RGD:12880034|PMID:25310701 20170502 RGD 12880037 SD-Dmdem1Ang strain DOID:9003139 Cardiac Fibrosis IMP D RGD:12880034|PMID:25310701 20170502 RGD 12880044 Am9 Aortic mass QTL 9 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12880050 Am10 Aortic mass QTL 10 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12880053 Cm104 Cardiac mass QTL 104 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12880368 Bw187 Body weight QTL 187 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12880370 Cm105 Cardiac mass QTL 105 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD 12880371 Cm106 Cardiac mass QTL 106 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD 12880372 Am12 Aortic mass QTL 12 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD 12880375 Kidm66 Kidney mass QTL 66 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD 12880380 Gh1sdr gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:1578505|PMID:2752987 20201210 RGD 12880380 Gh1sdr gene DOID:9007661 Dwarfism IAGP D RGD:1578505|PMID:2752987 20201210 RGD 12880380 Gh1sdr gene DOID:9007661 Dwarfism IAGP D RGD:1578506|PMID:2152867 20170504 RGD 12880382 Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant gene DOID:1825 childhood absence epilepsy IAGP D RGD:1598976|PMID:17196942 20170504 RGD 12880383 Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures gene DOID:0050989 episodic ataxia type 1 IAGP D RGD:10047237|PMID:22206926 20170504 RGD 12880383 Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures gene DOID:11832 visual epilepsy IAGP D RGD:10047237|PMID:22206926 20170504 RGD 12880383 Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures gene DOID:9003935 Myokymia IAGP D RGD:10047237|PMID:22206926 20170504 RGD 12880384 Cm107 Cardiac mass QTL 107 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD 12880385 Cm108 Cardiac mass QTL 108 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD 12880395 Cm109 Cardiac mass QTL 109 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD 12880396 Am13 Aortic mass QTL 13 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD 12880398 Kidm67 Kidney mass QTL 67 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD 12902615 Bw185 Body weight QTL 185 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170615 RGD 12902622 Bdnfem1Sage brain-derived neurotrophic factor; ZFN induced mutant 1, Sage gene DOID:9005632 Cocaine-Related Disorders severity IMP D RGD:38501054|PMID:23583595 20200820 RGD 12903245 Cm110 Cardiac mass QTL 110 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD 12903246 Cm111 Cardiac mass QTL 111 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD 12903247 Cm112 Cardiac mass QTL 112 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD 12903248 Am14 Aortic mass QTL 14 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD 12903249 Kidm68 Kidney mass QTL 68 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD 12903278 Am16 Aortic mass QTL 16 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD 12903279 Cm115 Cardiac mass QTL 115 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD 12903281 Cm116 Cardiac mass QTL 116 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD 12903952 Cm117 Cardiac mass QTL 117 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD 12903954 Bw186 Body weight QTL 186 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD 12903955 Kidm69 Kidney mass QTL 69 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD 12903978 Cm118 Cardiac mass QTL 118 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD 12903979 Cm119 Cardiac mass QTL 119 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD 12903980 Cm120 Cardiac mass QTL 120 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD 12903981 Am17 Aortic mass QTL 17 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD 12903982 Kidm70 Kidney mass QTL 70 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD 12904067 Cm122 Cardiac mass QTL 122 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD 12904069 Cm123 Cardiac mass QTL 123 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD 12904070 Cm124 Cardiac mass QTL 124 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD 12904071 Am18 Aortic mass QTL 18 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD 12904073 Kidm71 Kidney mass QTL 71 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD 12904668 Bw188 Body weight QTL 188 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904669 Cm125 Cardiac mass QTL 125 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904670 Cm126 Cardiac mass QTL 126 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904673 Cm127 Cardiac mass QTL 127 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904675 Am19 Aortic mass QTL 19 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904677 Kidm72 Kidney mass QTL 72 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904679 WKY-Cyp2j4em1Sage/Tja strain DOID:10952 nephritis IMP D RGD:12904676|PMID:25840911 20170517 RGD 12904679 WKY-Cyp2j4em1Sage/Tja strain DOID:5199 ureteral obstruction IMP D RGD:12904676|PMID:25840911 20170517 RGD 12904680 Bw189 Body weight QTL 189 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904681 Cyp2j4em1Sage cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage gene DOID:10952 nephritis IMP D RGD:12904676|PMID:25840911 20170517 RGD 12904681 Cyp2j4em1Sage cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage gene DOID:5199 ureteral obstruction IMP D RGD:12904676|PMID:25840911 20170517 RGD 12904689 Cm128 Cardiac mass QTL 128 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 12904690 Cm129 Cardiac mass QTL 129 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904691 Cm130 Cardiac mass QTL 130 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904693 Am20 Aortic mass QTL 20 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904695 Kidm73 Kidney mass QTL 73 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD 12904897 SD-Tp53em1Sage strain DOID:9000227 Hypogonadism and Testicular Atrophy IMP D RGD:14995504|PMID:28834365 20210928 RGD compared to SD 12904898 Tp53em1Sage tumor protein p53; ZFN induced mutant 1, Sage gene DOID:9000227 Hypogonadism and Testicular Atrophy IMP D RGD:14995504|PMID:28834365 20210930 RGD compared to SD 12904907 SD-Prkdcem1Sage strain DOID:9003676 Brain Hypoxia-Ischemia treatment IMP D RGD:39938998|PMID:30485360 20211111 RGD 12904908 SD-Ldlrem1Sage strain DOID:9000808 Hypercholesterolemia IMP D RGD:12910100|PMID:28469073 20170608 RGD 12904908 SD-Ldlrem1Sage strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12910100|PMID:28469073 20170608 RGD 12904909 Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910100|PMID:28469073 20170608 RGD 12904909 Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910100|PMID:28469073 20170608 RGD 12904912 SD-Lepem1Sage-/- strain DOID:10603 glucose intolerance IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904912 SD-Lepem1Sage-/- strain DOID:2018 hyperinsulinism IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904912 SD-Lepem1Sage-/- strain DOID:9000808 Hypercholesterolemia IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904912 SD-Lepem1Sage-/- strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904912 SD-Lepem1Sage-/- strain DOID:9970 obesity IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:10603 glucose intolerance IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:2018 hyperinsulinism IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:9000808 Hypercholesterolemia IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12904911|PMID:22948215 20170526 RGD 12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:9970 obesity IMP D RGD:12904911|PMID:22948215 20170526 RGD 12910101 SD-Ldlrem1 strain DOID:9000808 Hypercholesterolemia IMP D RGD:12910104|PMID:27378433 20170608 RGD 12910101 SD-Ldlrem1 strain DOID:9003370 Dyslipidemias IMP D RGD:12910104|PMID:27378433 20170608 RGD 12910101 SD-Ldlrem1 strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12910104|PMID:27378433 20170608 RGD 12910102 Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910104|PMID:27378433 20170608 RGD 12910102 Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 gene DOID:9003370 Dyslipidemias IMP D RGD:12910104|PMID:27378433 20170608 RGD 12910102 Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910104|PMID:27378433 20170608 RGD 12910493 LEW.1WR1-Ifnar1em1 strain DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910493 LEW.1WR1-Ifnar1em1 strain DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910494 LEW.1WR1-Ifnar1em2 strain DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910494 LEW.1WR1-Ifnar1em2 strain DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910495 Ifnar1em1 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1 gene DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910495 Ifnar1em1 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910496 Ifnar1em2 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2 gene DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910496 Ifnar1em2 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD 12910517 SD-Leprem2 strain DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD 12910518 Leprem2 leptin receptor; TALEN induced mutant 2 gene DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD 12910519 SD-Leprem3 strain DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD 12910546 Leprem3 leptin receptor; TALEN induced mutant 3 gene DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD 12910736 Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar gene DOID:5223 infertility IMP D RGD:8552987|PMID:24506075 20170623 RGD 12910762 BN-KitWs strain DOID:12449 aplastic anemia severity IMP D RGD:12910751|PMID:7694680 20170623 RGD 12910763 KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 gene DOID:12449 aplastic anemia severity IMP D RGD:12910751|PMID:7694680 20170623 RGD 12910834 Zbtb16Lx zinc finger and BTB domain containing 16, Lx mutant gene DOID:1148 polydactyly IAGP D RGD:2312786|PMID:19191224 20170626 RGD 12910940 SD-Cdkn1bwe strain DOID:0050771 pheochromocytoma IAGP D RGD:619590|PMID:12036912 20180503 RGD 12910940 SD-Cdkn1bwe strain DOID:0050773 paraganglioma IAGP D RGD:619590|PMID:12036912 20180503 RGD 12910940 SD-Cdkn1bwe strain DOID:3125 multiple endocrine neoplasia IAGP D RGD:619590|PMID:12036912 20170628 RGD 12910940 SD-Cdkn1bwe strain DOID:3829 pituitary adenoma IAGP D RGD:619590|PMID:12036912 20180503 RGD 12910940 SD-Cdkn1bwe strain DOID:83 cataract IAGP D RGD:619590|PMID:12036912 20170628 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:0050771 pheochromocytoma IAGP D RGD:619590|PMID:12036912 20201210 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:0050773 paraganglioma IAGP D RGD:619590|PMID:12036912 20201210 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:3125 multiple endocrine neoplasia IAGP D RGD:2293616|PMID:17030811 20170628 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:3125 multiple endocrine neoplasia IAGP D RGD:619590|PMID:12036912 20201210 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:3829 pituitary adenoma IAGP D RGD:619590|PMID:12036912 20201210 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:83 cataract IAGP D RGD:2293616|PMID:17030811 20170628 RGD 12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:83 cataract IAGP D RGD:619590|PMID:12036912 20201210 RGD 12910954 Csf1tl colony stimulating factor 1; tooth less mutant gene DOID:13533 osteopetrosis IAGP D RGD:628338|PMID:12379742 20170629 RGD 12910954 Csf1tl colony stimulating factor 1; tooth less mutant gene DOID:9007083 Edentulous Mouth IAGP D RGD:628338|PMID:12379742 20180430 RGD 1298065 Scl16 Serum cholesterol level QTL 16 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD 1298066 Bp159 Blood pressure QTL 159 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 1298066 Bp159 Blood pressure QTL 159 qtl DOID:10763 hypertension IDA D RGD:61047|PMID:9271663 19990101 RGD 1298067 Scl15 Serum cholesterol level QTL 15 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD 1298068 Bp167 Blood pressure QTL 167 qtl DOID:10763 hypertension IDA D RGD:61042|PMID:7963489 19990101 RGD 1298069 Bp168 Blood pressure QTL 168 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 1298070 Scl18 Serum cholesterol level QTL 18 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD 1298071 Edpm12 Estrogen-dependent pituitary mass QTL 12 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:629550|PMID:11003699 19990101 RGD 1298072 Cia26 Collagen induced arthritis QTL 26 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1285224|PMID:15334486 19990101 RGD 1298073 Cm13 Cardiac mass QTL 13 qtl DOID:10763 hypertension IDA D RGD:69705|PMID:9922389 19990101 RGD 1298074 Bp164 Blood pressure QTL 164 qtl DOID:10763 hypertension IAGP D RGD:728179|PMID:11980293 19990101 RGD 1298075 Scl17 Serum cholesterol level QTL 17 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD 1298076 Bp166 Blood pressure QTL 166 qtl DOID:10763 hypertension IAGP D RGD:728179|PMID:11980293 19990101 RGD 1298077 Bp157 Blood pressure QTL 157 qtl DOID:9006024 Hypotension IDA D RGD:619649|PMID:11875185 19990101 RGD 1298079 Activ2 Activity QTL 2 qtl DOID:9002362 Hyperkinesis QTM D RGD:631228|PMID:12660808 19990101 RGD 1298080 Bp163 Blood pressure QTL 163 qtl DOID:10763 hypertension IDA D RGD:68910|PMID:10642295 19990101 RGD 1298080 Bp163 Blood pressure QTL 163 qtl DOID:10763 hypertension IDA D RGD:69705|PMID:9922389 19990101 RGD 1298081 Cia25 Collagen induced arthritis QTL 25 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1285224|PMID:15334486 19990101 RGD 1298083 Bp158 Blood pressure QTL 158 qtl DOID:10763 hypertension IDA D RGD:61038|PMID:8040284 19990101 RGD 1298084 Thym4 Thymus enlargement QTL 4 qtl DOID:9004911 Thymus Hyperplasia IDA D RGD:70859|PMID:10792781 19990101 RGD 1298085 Bp165 Blood pressure QTL 165 qtl DOID:10763 hypertension IAGP D RGD:728179|PMID:11980293 19990101 RGD 1298086 Bp156 Blood pressure QTL 156 qtl DOID:9006024 Hypotension IDA D RGD:619649|PMID:11875185 19990101 RGD 1298087 Iddm18 Insulin dependent diabetes mellitus QTL 18 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:619685|PMID:11327715 19990101 RGD 1298088 Edpm11 Estrogen-dependent pituitary mass QTL 11 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:629550|PMID:11003699 19990101 RGD 1298089 Scl14 Serum cholesterol level QTL 14 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD 1298090 Bp155 Blood pressure QTL 155 qtl DOID:10763 hypertension IAGP D RGD:731210|PMID:14678232 20100217 RGD 1298524 Oia8 Oil induced arthritis QTL 8 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:629560|PMID:12571866 19990101 RGD 1298525 Cm1 Cardiac mass QTL 1 qtl DOID:10763 hypertension IAGP D RGD:69710|PMID:9383281 19990101 RGD 1298525 Cm1 Cardiac mass QTL 1 qtl DOID:9003936 Cardiomegaly IAGP D RGD:69710|PMID:9383281 19990101 RGD 1298528 Bp169 Blood pressure QTL 169 qtl DOID:9006024 Hypotension IDA D RGD:69711|PMID:11247666 19990101 RGD 1299871 DA.F344-(D20Arb2-D20Arb8)/Arb strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000281 D RGD:629569|PMID:12209529 20070214 RGD 1299872 DA.F344-(D8Arb15-D8Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD 1299872 DA.F344-(D8Arb15-D8Arb22)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD 1299875 DA.F344-(D7Rat22-D7Mit2)/Nsi strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263|XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD 1299876 SS.LEW-(D5Rat54-D5Rat108)/Jr strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:619649|PMID:11875185 19990101 RGD 1299877 DA.F344-(D10Rat204-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD 1299877 DA.F344-(D10Rat204-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD 1299878 DA.F344-(D4Arb30-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis MODEL: induced IAGP XCO:0000281| XCO:0000263 D RGD:7243954|PMID:22076633 20130604 RGD 1299878 DA.F344-(D4Arb30-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD 1299878 DA.F344-(D4Arb30-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD 1299880 F344.DA-(D20Arb2-D20Arb8)/Arb strain DOID:848 arthritis induced IAGP XCO:0000281,XCO:0000263,XCO:0000265 D RGD:629569|PMID:12209529 19990101 RGD compared to DA/Bkl 1300075 Glom7 Glomerulus QTL 7 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 1300076 Glom8 Glomerulus QTL 8 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 1300107 Rf18 Renal function QTL 18 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300107 Rf18 Renal function QTL 18 qtl DOID:9005274 Polyuria IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300108 Rf8 Renal function QTL 8 qtl DOID:1073 renal hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300108 Rf8 Renal function QTL 8 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300109 Rf13 Renal function QTL 13 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300110 Stl7 Serum triglyceride level QTL 7 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:727992|PMID:14532335 19990101 RGD 1300111 Rf12 Renal function QTL 12 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300111 Rf12 Renal function QTL 12 qtl DOID:557 kidney disease IDA D RGD:727992|PMID:14532335 19990101 RGD 1300112 Bp183 Blood pressure QTL 183 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300113 Bp176 Blood pressure QTL 176 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300114 Srn2 Serum renin concentration QTL 2 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300115 Hrtrt7 Heart rate QTL 7 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300116 Hrtrt5 Heart rate QTL 5 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300117 Hrtrt8 Heart rate QTL 8 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:727992|PMID:14532335 19990101 RGD 1300118 Bp190 Blood pressure QTL 190 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300119 Bp180 Blood pressure QTL 180 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300120 Kidm7 Kidney mass QTL 7 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300121 Hrtrt1 Heart rate QTL 1 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300122 Wbc1 White blood cell count QTL 1 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300122 Wbc1 White blood cell count QTL 1 qtl DOID:9005372 Inflammation IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300123 Bp194 Blood pressure QTL 194 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300124 Cm4 Cardiac mass QTL 4 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300124 Cm4 Cardiac mass QTL 4 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD 1300125 Rf26 Renal function QTL 26 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300126 Bp175 Blood pressure QTL 175 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300127 Srn1 Serum renin concentration QTL 1 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300128 Rf16 Renal function QTL 16 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300129 Rf25 Renal function QTL 25 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300130 Rf20 Renal function QTL 20 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300130 Rf20 Renal function QTL 20 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:727992|PMID:14532335 19990101 RGD 1300131 Bp193 Blood pressure QTL 193 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300132 Bp182 Blood pressure QTL 182 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300133 Rf24 Renal function QTL 24 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300134 Bp185 Blood pressure QTL 185 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300135 Rf19 Renal function QTL 19 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300135 Rf19 Renal function QTL 19 qtl DOID:576 proteinuria IDA D RGD:727992|PMID:14532335 19990101 RGD 1300136 Rf22 Renal function QTL 22 qtl DOID:1073 renal hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300136 Rf22 Renal function QTL 22 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300137 Bp186 Blood pressure QTL 186 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300138 Hrtrt9 Heart rate QTL 9 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300139 Hrtrt6 Heart rate QTL 6 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300140 Srn3 Serum renin concentration QTL 3 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300141 Bp178 Blood pressure QTL 178 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300142 Bp191 Blood pressure QTL 191 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300143 Rf14 Renal function QTL 14 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300144 Rf23 Renal function QTL 23 qtl DOID:1073 renal hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300144 Rf23 Renal function QTL 23 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300145 Rf7 Renal function QTL 7 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300146 Rf17 Renal function QTL 17 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300147 Bp187 Blood pressure QTL 187 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300148 Bp192 Blood pressure QTL 192 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300149 Cm6 Cardiac mass QTL 6 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD 1300150 Cm3 Cardiac mass QTL 3 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD 1300151 Bp181 Blood pressure QTL 181 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300152 Bp195 Blood pressure QTL 195 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300153 Bp171 Blood pressure QTL 171 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300154 Bp189 Blood pressure QTL 189 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300155 Bp174 Blood pressure QTL 174 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300155 Bp174 Blood pressure QTL 174 qtl DOID:576 proteinuria IDA D RGD:727992|PMID:14532335 19990101 RGD 1300156 Bp179 Blood pressure QTL 179 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300157 Rf21 Renal function QTL 21 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300157 Rf21 Renal function QTL 21 qtl DOID:557 kidney disease IDA D RGD:727992|PMID:14532335 19990101 RGD 1300158 Bp173 Blood pressure QTL 173 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300159 Kidm4 Kidney mass QTL 4 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300160 Hrtrt3 Heart rate QTL 3 qtl DOID:10763 hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300160 Hrtrt3 Heart rate QTL 3 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300161 Rf10 Renal function QTL 10 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300162 Bp188 Blood pressure QTL 188 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300163 Cardf1 Cardiac cell morphology QTL 1 qtl DOID:520 aortic disease IDA D RGD:727992|PMID:14532335 19990101 RGD 1300164 Rf15 Renal function QTL 15 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300165 Rf9 Renal function QTL 9 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300165 Rf9 Renal function QTL 9 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:727992|PMID:14532335 19990101 RGD 1300166 Kidm6 Kidney mass QTL 6 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300167 Hrtrt2 Heart rate QTL 2 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300168 Bp170 Blood pressure QTL 170 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300169 Bp177 Blood pressure QTL 177 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300170 Rf6 Renal function QTL 6 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300171 Bp184 Blood pressure QTL 184 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300172 Bp172 Blood pressure QTL 172 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300173 Rf11 Renal function QTL 11 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300175 Cm5 Cardiac mass QTL 5 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD 1300176 Hrtrt10 Heart rate QTL 10 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300177 Cm2 Cardiac mass QTL 2 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD 1300177 Cm2 Cardiac mass QTL 2 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD 1300178 Hrtrt4 Heart rate QTL 4 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1300179 Kidm5 Kidney mass QTL 5 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD 1302372 SDDIO/Rrrc strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:1302371|PMID:9277561 19990101 RGD compared to SDDR/Rrrc strain 1302372 SDDIO/Rrrc strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:21408576|PMID:27173431 20200320 RGD compared to SDDR/Rrrc strain 1302373 SDDR/Rrrc strain DOID:9970 obesity MODEL: control IAGP D RGD:1302371|PMID:9277561 20200320 RGD compared to SDDIO/Rrrc strain 1302373 SDDR/Rrrc strain DOID:9970 obesity MODEL: control IAGP D RGD:21408576|PMID:27173431 20200320 RGD compared to SDDIO/Rrrc strain 1302377 SPRD-Anks6PKD/Rrrc strain DOID:0080322 polycystic kidney disease IAGP D RGD:1300446|PMID:7933831 20200416 RGD 1302377 SPRD-Anks6PKD/Rrrc strain DOID:4676 uremia IAGP D RGD:1300446|PMID:7933831 20200416 RGD 1302377 SPRD-Anks6PKD/Rrrc strain DOID:576 proteinuria IAGP D RGD:1300446|PMID:7933831 20200416 RGD 1302404 Cia27 Collagen induced arthritis QTL 27 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61063|PMID:9870869 19990101 RGD 1302597 LEXF7C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302600 HTX/Kyo hydrocephalus texas strain DOID:10908 hydrocephalus penetrance IAGP D RGD:1302443|PMID:10661794 19990101 RGD 1302604 LEXF4/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302604 LEXF4/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302605 LEXF2A/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302605 LEXF2A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302610 KMI/Tky miniature rat ishikawa strain DOID:9007661 Dwarfism IAGP D RGD:150429792|PMID:15466490 20210929 RGD compared to wild type 1302610 KMI/Tky miniature rat ishikawa strain DOID:9007661 Dwarfism IAGP D RGD:150429793|PMID:19149413 20210929 RGD compared to wild type, and heterozygous litter mates 1302612 LEXF10C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302616 LEXF10B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302618 LEXF9/Stm strain DOID:0080916 erythroleukemia induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302621 LEXF10A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302623 TM/Kyo tester moriyama rat strain DOID:2223 platelet storage pool deficiency IAGP D RGD:1302447|PMID:9250486 19990101 RGD 1302627 F344/NSlc strain DOID:4195 hyperglycemia MODEL: control IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F.O-Nidd4/of,F.O-Nidd10/of,F.O-Nidd1/of,F.O-Nidd3/of 1302627 F344/NSlc strain DOID:9351 diabetes mellitus MODEL: control IAGP D RGD:2298688|PMID:18612083 20200130 RGD compared to SDT/Jcl 1302636 WKY.SHRSP-(D1Wox29-D1Arb21)/Izm strain DOID:10763 hypertension susceptibility IAGP D RGD:1302892|PMID:15480093 19990101 RGD compared to WKY/Izm 1302636 WKY.SHRSP-(D1Wox29-D1Arb21)/Izm strain DOID:9003968 Stress-Induced Hypertension induced IAGP XCO:0000337 D RGD:1578503|PMID:16239369 20191209 RGD compared to hypertensive strain SHRSP/Izm 1302638 LEXF11/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302641 LEXF1A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302645 DMY/Kyo demyelination rat strain DOID:3213 demyelinating disease MODEL: spontaneous IAGP D RGD:12793070|PMID:21253565 20170320 RGD DNA:missense mutation:intron (Mrs2) 1302646 LEXF2C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302648 LEC/Hok Long Evans Cinnamon strain DOID:2237 hepatitis IAGP D RGD:1302497|PMID:3429843 19990101 RGD 1302648 LEC/Hok Long Evans Cinnamon strain DOID:2237 hepatitis IAGP D RGD:25823153|PMID:3392951 20200501 RGD 1302648 LEC/Hok Long Evans Cinnamon strain DOID:684 hepatocellular carcinoma onset IAGP D RGD:15036817|PMID:8291609 20191120 RGD 1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL IAGP XCO:0000212 D RGD:25823141|PMID:30733544 20200708 RGD compared to LEA/Hok 1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL: spontaneous IAGP D RGD:25823154|PMID:1561010 20200501 RGD 1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL: spontaneous IAGP D RGD:631728|PMID:7951327 20170628 RGD 1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL:induced IAGP XCO:0000212 D RGD:35316074|PMID:24358170 20200708 RGD compared to LEA/Hok 1302648 LEC/Hok Long Evans Cinnamon strain DOID:9004590 Acute Liver Failure IAGP D RGD:15036817|PMID:8291609 20191120 RGD 1302649 LEXF7B/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302649 LEXF7B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302652 LEXF7A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302653 LEXF8A/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302654 F344.OLETF-(D7Mgh16-D7Mgh20)/Tj strain DOID:4195 hyperglycemia MODEL:induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F344/NSlc 1302660 RCS/Kyo royal college of surgeons rat strain DOID:8466 retinal degeneration MODEL: spontaneous IAGP D RGD:69668|PMID:11592982 20190802 RGD 1302663 F344.OLETF-(D11Rat4-D11Rat1)/Tj strain DOID:4195 hyperglycemia MODEL:induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F344/NSlc 1302666 LEXF1C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302678 NAR/Slc non albumin rat strain DOID:9000568 Analbuminemia susceptibility IAGP D RGD:126781840|PMID:451621 20210421 RGD 1302679 TRMR/Kyo tremor resistant strain DOID:9000495 Tremor MODEL: control IAGP D RGD:11060746|PMID:25970616 20200910 RGD compared to TRM/Kyo 1302679 TRMR/Kyo tremor resistant strain DOID:9000495 Tremor MODEL: induced IMP D RGD:11060746|PMID:25970616 20180103 RGD induced by HCN1 channel blocker ZD7288 1302685 F344.OLETF-(D14Rat8-D14Rat26)/Tj strain DOID:4195 hyperglycemia MODEL:induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20090211 RGD compared to F344/NSlc 1302686 F344/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302695 SER/Kyo spontaneously epileptic rat strain DOID:11832 visual epilepsy MODEL: spontaneous IAGP D RGD:1302445|PMID:3559168 20200923 RGD compared to heterozygous rats 1302695 SER/Kyo spontaneously epileptic rat strain DOID:11832 visual epilepsy MODEL:spontaneous IAGP D RGD:1600256|PMID:17326796 20070306 RGD compared to Wistar rats 1302695 SER/Kyo spontaneously epileptic rat strain DOID:7725 epilepsy with generalized tonic-clonic seizures treatment IAGP D RGD:39128157|PMID:16146430 20200923 RGD 1302697 KND/Tky komeda non-diabetic rat strain DOID:9744 type 1 diabetes mellitus MODEL: control IAGP D RGD:41412159|PMID:10395228 20210218 RGD compared to KDP/Tky 1302698 SDR/Slc Spontaneous dwarf rat strain DOID:0060870 isolated growth hormone deficiency IAGP D RGD:1578505|PMID:2752987 19990101 RGD 1302698 SDR/Slc Spontaneous dwarf rat strain DOID:9007661 Dwarfism IAGP D RGD:1578505|PMID:2752987 20170504 RGD 1302698 SDR/Slc Spontaneous dwarf rat strain DOID:9007661 Dwarfism IAGP D RGD:1578506|PMID:2152867 20170504 RGD 1302699 LEXF8D/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302699 LEXF8D/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302702 TRM/Kyo tremor rat strain DOID:1825 childhood absence epilepsy MODEL: spontaneous IAGP D RGD:13602101|PMID:3104669 20090209 RGD 1302702 TRM/Kyo tremor rat strain DOID:9000495 Tremor IAGP D RGD:11060746|PMID:25970616 20180103 RGD 1302707 LEXF3/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302707 LEXF3/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302710 LEXF2B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 1302711 ExHC/Seac strain DOID:9000808 Hypercholesterolemia induced IAGP XCO:0000246, XCO:0000025 D RGD:2300117|PMID:18753676 20100217 RGD 1302713 F344.OLETF-(D8Rat58-D8Mgh17)/Tj strain DOID:4195 hyperglycemia IAGP D RGD:2300331|PMID:18421176 20080912 RGD heterozygous genotype at the Niddm21 locus 1302713 F344.OLETF-(D8Rat58-D8Mgh17)/Tj strain DOID:4195 hyperglycemia MODEL:induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F344/NSlc 1302721 LEC/Tj strain DOID:2697 renal adenoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD 1302721 LEC/Tj strain DOID:686 liver carcinoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD 1302721 LEC/Tj strain DOID:9007188 Liver Neoplasms IAGP D RGD:1302456|PMID:11509115 20191119 RGD 1302723 LEXF5/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 1302728 MES/Slc Matsumoto Eosinophilia Shinshu strain DOID:9001371 Eosinophilia IAGP D RGD:11040542|PMID:19406829 20170828 RGD 1302728 MES/Slc Matsumoto Eosinophilia Shinshu strain DOID:9001371 Eosinophilia IAGP D RGD:5134976|PMID:20660993 20200708 RGD 1302728 MES/Slc Matsumoto Eosinophilia Shinshu strain DOID:9001371 Eosinophilia IAGP D RGD:5134988|PMID:21512270 20110711 RGD 1302786 Kidm8 Kidney mass QTL 8 qtl DOID:0080322 polycystic kidney disease IDA D RGD:629573|PMID:9097967 19990101 RGD 1302786 Kidm8 Kidney mass QTL 8 qtl DOID:4676 uremia IDA D RGD:629573|PMID:9097967 19990101 RGD 1302787 Stl25 Serum triglyceride level QTL 25 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD 1302788 Scl19 Serum cholesterol QTL 19 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD 1302789 Stl26 Serum triglyceride level QTL 26 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD 1302791 Stl29 Serum triglyceride level QTL 29 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD 1302791 Stl29 Serum triglyceride level QTL 29 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD 1302791 Stl29 Serum triglyceride level QTL 29 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 1302793 Bw16 Body weight QTL 16 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 19990101 RGD 1302793 Bw16 Body weight QTL 16 qtl DOID:9970 obesity IAGP D RGD:1299960|PMID:14709677 19990101 RGD 1302794 Stl27 Serum triglyceride level QTL 27 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD 1302795 HTG Prague hypertriglyceridemic strain DOID:10763 hypertension IAGP D RGD:1299960|PMID:14709677 19990101 RGD 1302795 HTG Prague hypertriglyceridemic strain DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 20200416 RGD 1302795 HTG Prague hypertriglyceridemic strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:1299960|PMID:14709677 19990101 RGD 1302921 F344-Tg(NPHS2-HBEGF)Wig strain DOID:0050851 glomerulosclerosis induced IMP XCO:0000736 D RGD:1556472|PMID:16107576 20200908 RGD 1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060356 Vici syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1349184 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1349184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349184 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1302935 Nudt19 nudix hydrolase 19 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1302935 Nudt19 nudix hydrolase 19 gene DOID:630 genetic disease ISO RGD:1602031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302936 C1rl complement C1r subcomponent like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1302936 C1rl complement C1r subcomponent like gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346889 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1302936 C1rl complement C1r subcomponent like gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346889 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1302936 C1rl complement C1r subcomponent like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346889 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1302936 C1rl complement C1r subcomponent like gene DOID:0111621 Temtamy syndrome ISO RGD:1346889 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1302936 C1rl complement C1r subcomponent like gene DOID:630 genetic disease ISO RGD:1346889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302936 C1rl complement C1r subcomponent like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346889 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1302937 Krt13 keratin 13 gene DOID:0050448 white sponge nevus ISO RGD:1349257 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism 1302937 Krt13 keratin 13 gene DOID:0081287 white sponge nevus 1 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 1302937 Krt13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:7240710 20230201 OMIM 1302937 Krt13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 2 PMID:14600690|PMID:25741868|PMID:28492532|PMID:7493031|PMID:7532199 1302937 Krt13 keratin 13 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1349257 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1302937 Krt13 keratin 13 gene DOID:630 genetic disease ISO RGD:1349257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302937 Krt13 keratin 13 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1349257 D RGD:1304472|PMID:7493031 20070301 RGD DNA:missense mutation: ; white sponge nevus, OMIM:193900 1302939 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1302939 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:1059 intellectual disability ISO RGD:1349957 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302939 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:630 genetic disease ISO RGD:1349957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302941 P2ry13 purinergic receptor P2Y13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1302941 P2ry13 purinergic receptor P2Y13 gene DOID:630 genetic disease ISO RGD:1602708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0050476 Barth syndrome ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349319 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:7240710 20131106 OMIM 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989|PMID:25741868 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1349319 D RGD:7483567|PMID:24011989 20131202 RGD DNA:mutation, deletion:exon:p.Q33X (human) 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:10907 microcephaly ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:12849 autistic disorder ISO RGD:1349319 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:13628 favism ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:2729 dyskeratosis congenita ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:607 paraplegia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:630 genetic disease ISO RGD:1349319 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:9002720 Splenomegaly ISO RGD:1349319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:9008086 Developmental Disabilities ISO RGD:1349319 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:4621 holoprosencephaly ISO RGD:1602193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1602193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302946 Capn11 calpain 11 gene DOID:630 genetic disease ISO RGD:1342957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:1353438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:1856 cherubism ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1353438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353438 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353438 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:630 genetic disease ISO RGD:1353438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353438 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1302949 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:1059 intellectual disability ISO RGD:1604561 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302949 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:12849 autistic disorder ISO RGD:1604561 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1302949 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1604561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302950 Rnf166 ring finger protein 166 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351592 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1302950 Rnf166 ring finger protein 166 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1302950 Rnf166 ring finger protein 166 gene DOID:14780 KBG syndrome ISO RGD:1351592 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1302950 Rnf166 ring finger protein 166 gene DOID:630 genetic disease ISO RGD:1351592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302950 Rnf166 ring finger protein 166 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351592 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1302952 Cops4 COP9 signalosome subunit 4 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1345570 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1302952 Cops4 COP9 signalosome subunit 4 gene DOID:630 genetic disease ISO RGD:1345570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302954 Spata21 spermatogenesis associated 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1302954 Spata21 spermatogenesis associated 21 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1302954 Spata21 spermatogenesis associated 21 gene DOID:630 genetic disease ISO RGD:1602628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302954 Spata21 spermatogenesis associated 21 gene DOID:9007188 Liver Neoplasms ISO RGD:1602628 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1302955 Ddah2 dimethylarginine dimethylaminohydrolase 2 gene DOID:0050553 JMP syndrome ISO RGD:1346413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302955 Ddah2 dimethylarginine dimethylaminohydrolase 2 gene DOID:10591 pre-eclampsia ISO RGD:1346413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22285683 1302955 Ddah2 dimethylarginine dimethylaminohydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:1346413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17267746 1302955 Ddah2 dimethylarginine dimethylaminohydrolase 2 gene DOID:630 genetic disease ISO RGD:1346413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1349585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:7240710 20190315 OMIM 1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 29 PMID:25741868|PMID:28554943 1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:630 genetic disease ISO RGD:1349585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302957 Kcne4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1346142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302957 Kcne4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346142 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1302958 Zbtb12 zinc finger and BTB domain containing 12 gene DOID:0050553 JMP syndrome ISO RGD:1342499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302958 Zbtb12 zinc finger and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1342499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302959 Crip2 cysteine-rich protein 2 gene DOID:0080600 COVID-19 ISO RGD:1351980 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1302959 Crip2 cysteine-rich protein 2 gene DOID:630 genetic disease ISO RGD:1351980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302961 Scgb1d4 secretoglobin family 1D member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1302961 Scgb1d4 secretoglobin family 1D member 4 gene DOID:1059 intellectual disability ISO RGD:1606365 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302961 Scgb1d4 secretoglobin family 1D member 4 gene DOID:630 genetic disease ISO RGD:1606365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302962 Mug2 murinoglobulin 2 gene DOID:0080600 COVID-19 ISO RGD:736140 D RGD:9068941 20230330 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1302962 Mug2 murinoglobulin 2 gene DOID:630 genetic disease ISO RGD:736140 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302962 Mug2 murinoglobulin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736140 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1302962 Mug2 murinoglobulin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736140 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 1302963 Dhx16 DEAH-box helicase 16 gene DOID:1059 intellectual disability ISO RGD:1344132 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 1302963 Dhx16 DEAH-box helicase 16 gene DOID:11372 megacolon ISO RGD:1344132 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302963 Dhx16 DEAH-box helicase 16 gene DOID:1826 epilepsy ISO RGD:1344132 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 1302963 Dhx16 DEAH-box helicase 16 gene DOID:630 genetic disease ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1302963 Dhx16 DEAH-box helicase 16 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344132 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31256877 1302963 Dhx16 DEAH-box helicase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344132 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 1302963 Dhx16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:7240710 20200226 OMIM 1302963 Dhx16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures PMID:25741868|PMID:31256877 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1346501 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:1059 intellectual disability ISO RGD:1346501 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:2746 glycogen storage disease V ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:630 genetic disease ISO RGD:1346501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1302964 Tsga10ip testis specific 10 interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1302965 Pon3 paraoxonase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344009 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1302965 Pon3 paraoxonase 3 gene DOID:10608 celiac disease ISO RGD:1344009 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:duodenum (human) 1302965 Pon3 paraoxonase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344009 D RGD:5509926|PMID:16319130 20111111 RGD DNA:polymorphisms:multiple SNPs (human) 1302965 Pon3 paraoxonase 3 gene DOID:1936 atherosclerosis ISO RGD:1344009 D RGD:5509927|PMID:20182519 20111111 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective 1302965 Pon3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:5509925|PMID:16822964 20111111 RGD DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human) 1302965 Pon3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 1302965 Pon3 paraoxonase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344009 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1302965 Pon3 paraoxonase 3 gene DOID:630 genetic disease ISO RGD:1344009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302965 Pon3 paraoxonase 3 gene DOID:8577 ulcerative colitis ISO RGD:1344009 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:colon (human) 1302965 Pon3 paraoxonase 3 gene DOID:8778 Crohn's disease ISO RGD:1344009 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:terminal ileum (human) 1302966 Nrm nurim gene DOID:11372 megacolon ISO RGD:1352240 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302966 Nrm nurim gene DOID:630 genetic disease ISO RGD:1352240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302968 Krt77 keratin 77 gene DOID:630 genetic disease ISO RGD:1352886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302969 Phf23 PHD finger protein 23 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1302969 Phf23 PHD finger protein 23 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1302969 Phf23 PHD finger protein 23 gene DOID:1059 intellectual disability ISO RGD:1601853 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1302969 Phf23 PHD finger protein 23 gene DOID:12177 common variable immunodeficiency ISO RGD:1601853 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1302969 Phf23 PHD finger protein 23 gene DOID:2729 dyskeratosis congenita ISO RGD:1601853 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1302969 Phf23 PHD finger protein 23 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1302969 Phf23 PHD finger protein 23 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601853 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1302969 Phf23 PHD finger protein 23 gene DOID:630 genetic disease ISO RGD:1601853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302970 Prss46 protease, serine, 46 gene DOID:9008939 Breast Neoplasms ISO RGD:1552176 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1302971 Adm2 adrenomedullin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1302971 Adm2 adrenomedullin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1348112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1302971 Adm2 adrenomedullin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348112 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1302971 Adm2 adrenomedullin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1348112 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1302971 Adm2 adrenomedullin 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1348112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1302971 Adm2 adrenomedullin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1348112 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1302971 Adm2 adrenomedullin 2 gene DOID:1059 intellectual disability ISO RGD:1348112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302971 Adm2 adrenomedullin 2 gene DOID:178 vascular disease ISO RGD:1348112 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19910445 1302971 Adm2 adrenomedullin 2 gene DOID:630 genetic disease ISO RGD:1348112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302971 Adm2 adrenomedullin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16987513 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605700 D RGD:9589169|PMID:24652950 20141110 RGD 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050553 JMP syndrome ISO RGD:1605700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:1909 melanoma disease_progression ISO RGD:1605700 D RGD:9590069|PMID:24658378 20141112 RGD 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605700 D RGD:9590071|PMID:24805087 20141112 RGD protein:increased expression:esophagus mucosa: 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605700 D RGD:9589170|PMID:20940408 20141110 RGD 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:4001 ovarian carcinoma ISO RGD:1605700 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25115793 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:5223 infertility ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25975992 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9590069|PMID:24658378 20141112 RGD associated with Melanoma; 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9590071|PMID:24805087 20141112 RGD associated with Esophageal Squamous Cell Carcinoma; 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20940408|PMID:25115793 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9589170|PMID:20940408 20141110 RGD associated with lung neoplasms; 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9004203 Chromosome Breakage ISO RGD:1605700 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9004379 Vesicular Stomatitis ISO RGD:1605700 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:26418342 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20940408 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20056891 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605700 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1605700 D RGD:9589147|PMID:19843671 20141110 RGD DNA:SNP: :rs535586(human) 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1605700 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:24532712 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1550173 D RGD:9589168|PMID:24532712 20141110 RGD 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:986 alopecia areata ISO RGD:1605700 D RGD:9587460|PMID:21936853 20141112 RGD mRNA:increased expression:mononuclear cell: 1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1605700 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 1302973 Rxfp1 relaxin family peptide receptor 1 gene DOID:11372 megacolon ISO RGD:1351067 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302973 Rxfp1 relaxin family peptide receptor 1 gene DOID:289 endometriosis ISO RGD:1351067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1302973 Rxfp1 relaxin family peptide receptor 1 gene DOID:630 genetic disease ISO RGD:1351067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302974 Tcf19 transcription factor 19 gene DOID:0050553 JMP syndrome ISO RGD:1345711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302974 Tcf19 transcription factor 19 gene DOID:10003 sensorineural hearing loss ISO RGD:1345711 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1302974 Tcf19 transcription factor 19 gene DOID:11372 megacolon ISO RGD:1345711 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302974 Tcf19 transcription factor 19 gene DOID:630 genetic disease ISO RGD:1345711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302974 Tcf19 transcription factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1345711 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1302974 Tcf19 transcription factor 19 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 1302976 Rpl18a ribosomal protein L18A gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1345925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 1302976 Rpl18a ribosomal protein L18A gene DOID:1574 alcohol use disorder IEP D RGD:11038708|PMID:11244494 20160222 RGD mRNA:decreased expression:parietal cortex 1302976 Rpl18a ribosomal protein L18A gene DOID:630 genetic disease ISO RGD:1345925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302976 Rpl18a ribosomal protein L18A gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:1345925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 1302976 Rpl18a ribosomal protein L18A gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1345925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343556 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1343556 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343556 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1343556 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:630 genetic disease ISO RGD:1343556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343556 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1343556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1302979 Habp2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868|PMID:28492532 1302979 Habp2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:1350340 D RGD:7240710 20230505 OMIM 1302979 Habp2 hyaluronan binding protein 2 gene DOID:2452 thrombophilia ISO RGD:1350340 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 1302979 Habp2 hyaluronan binding protein 2 gene DOID:3770 pulmonary fibrosis IEP D RGD:11353855|PMID:20818495 20160725 RGD 1302979 Habp2 hyaluronan binding protein 2 gene DOID:630 genetic disease ISO RGD:1350340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9000965 Neoplasm Metastasis treatment IMP D RGD:11353856|PMID:22715430 20160725 RGD associated with Thyroid Neoplasms 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1350340 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:12138371|PMID:12578864|PMID:15486068|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1350340 D RGD:11353820|PMID:22421107 20160722 RGD DNA:SNP: :p.G534E (rs7080536) (human) 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1350340 D RGD:11353820|PMID:22421107 20160722 RGD DNA:SNP: :p.G534E (rs7080536) (human) 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9004547 Thyroid Neoplasms IMP D RGD:11353856|PMID:22715430 20160725 RGD 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005|PMID:28492532 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5 PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 1302979 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 susceptibility ISO RGD:1350340 D RGD:7240710 20230505 OMIM 1302980 Xirp2 xin actin-binding repeat containing 2 gene DOID:10348 blepharophimosis ISO RGD:1347436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis 1302980 Xirp2 xin actin-binding repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1302981 Zfp57 zinc finger protein 57 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 1302981 Zfp57 zinc finger protein 57 gene DOID:11372 megacolon ISO RGD:1344217 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302981 Zfp57 zinc finger protein 57 gene DOID:630 genetic disease ISO RGD:1344217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1302981 Zfp57 zinc finger protein 57 gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:7240710 20130731 OMIM 1302981 Zfp57 zinc finger protein 57 gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 6q24-RELATED DIABETES MELLITUS | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 PMID:18197189|PMID:18414213|PMID:18622393|PMID:23499433|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 1302981 Zfp57 zinc finger protein 57 gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18622393 1302981 Zfp57 zinc finger protein 57 gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 1302982 Pla2g15 phospholipase A2, group XV gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1302982 Pla2g15 phospholipase A2, group XV gene DOID:0080600 COVID-19 ISO RGD:1344350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1302982 Pla2g15 phospholipase A2, group XV gene DOID:2349 arteriosclerosis ISO RGD:1552207 D RGD:1582126|PMID:15781238 20061101 RGD 1302982 Pla2g15 phospholipase A2, group XV gene DOID:630 genetic disease ISO RGD:1344350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302983 Osmr oncostatin M receptor gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1352311 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1302983 Osmr oncostatin M receptor gene DOID:0080600 COVID-19 ISO RGD:1352311 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1302983 Osmr oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:7240710 20190327 OMIM 1302983 Osmr oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 PMID:18179886|PMID:19690585 1302983 Osmr oncostatin M receptor gene DOID:1790 malignant mesothelioma ISO RGD:1352311 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1302983 Osmr oncostatin M receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1302983 Osmr oncostatin M receptor gene DOID:630 genetic disease ISO RGD:1352311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1302983 Osmr oncostatin M receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352311 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1302984 Lmo7 LIM domain 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351855 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1302984 Lmo7 LIM domain 7 gene DOID:630 genetic disease ISO RGD:1351855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302985 Rgl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0050553 JMP syndrome ISO RGD:1347432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302985 Rgl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1347432 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1302985 Rgl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:630 genetic disease ISO RGD:1347432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302986 Lcn6 lipocalin 6 gene DOID:0050777 Joubert syndrome ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1302986 Lcn6 lipocalin 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1302986 Lcn6 lipocalin 6 gene DOID:3652 Leigh disease ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1302986 Lcn6 lipocalin 6 gene DOID:630 genetic disease ISO RGD:1349815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302986 Lcn6 lipocalin 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1302987 Ano7 anoctamin 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1302987 Ano7 anoctamin 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1302987 Ano7 anoctamin 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1302987 Ano7 anoctamin 7 gene DOID:1059 intellectual disability ISO RGD:1351029 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1302987 Ano7 anoctamin 7 gene DOID:630 genetic disease ISO RGD:1351029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302987 Ano7 anoctamin 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1302987 Ano7 anoctamin 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1348339 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome PMID:32694869 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348339 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348339 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348339 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10348 blepharophimosis ISO RGD:1348339 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1059 intellectual disability ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:22366787|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28628100|PMID:32694869 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10907 microcephaly ISO RGD:1348339 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1790 malignant mesothelioma ISO RGD:1348339 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability PMID:18414213|PMID:28512736 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:630 genetic disease ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16738128|PMID:17576681|PMID:18414213|PMID:25169058|PMID:25169753|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28512736|PMID:32694869|PMID:9536098 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1348339 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Arnold-Chiari malformation 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366787 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:7240710 20141015 OMIM 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22822383|PMID:23752187|PMID:23929686|PMID:25169058|PMID:25169753|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28824374|PMID:30459321|PMID:31785789|PMID:32694869|PMID:9536098 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1348339 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1348339 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004507 Hirsutism ISO RGD:1348339 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:22366787|PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008582 Developmental Disease ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:7240710 20230215 OMIM 1302988 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome PMID:25533962|PMID:25741868|PMID:28191890|PMID:28492532|PMID:28628100|PMID:32694869 1302990 Lag3 lymphocyte activating 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1302990 Lag3 lymphocyte activating 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344873 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1302990 Lag3 lymphocyte activating 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1344873 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1302990 Lag3 lymphocyte activating 3 gene DOID:630 genetic disease ISO RGD:1344873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302990 Lag3 lymphocyte activating 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344873 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0080690 RASopathy ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1348300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348300 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1348300 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:630 genetic disease ISO RGD:1348300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348300 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1348300 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:7240710 20200318 OMIM 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138|PMID:34878169 1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9007661 Dwarfism ISO RGD:1348300 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1344859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:11372 megacolon ISO RGD:1344859 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344859 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:630 genetic disease ISO RGD:1344859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:670 amphetamine abuse ISO RGD:1344859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:986 alopecia areata ISS RGD:1617323 D RGD:13592920 20211104 MouseDO OMIM:104000 | OMIM:610753 1302993 Ly96 lymphocyte antigen 96 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:21147908|PMID:28492532 1302993 Ly96 lymphocyte antigen 96 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1349135 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 1302993 Ly96 lymphocyte antigen 96 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1349135 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 1302993 Ly96 lymphocyte antigen 96 gene DOID:13580 cholestasis ISO RGD:1349135 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1302993 Ly96 lymphocyte antigen 96 gene DOID:305 carcinoma ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 1302993 Ly96 lymphocyte antigen 96 gene DOID:630 genetic disease ISO RGD:1349135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302993 Ly96 lymphocyte antigen 96 gene DOID:7148 rheumatoid arthritis ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 1302993 Ly96 lymphocyte antigen 96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 1302993 Ly96 lymphocyte antigen 96 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1302993 Ly96 lymphocyte antigen 96 gene DOID:9003321 Bacterial Keratitis ISO RGD:1623303 D RGD:8662876|PMID:23033384 20140626 RGD associated with Serratia Infections; 1302993 Ly96 lymphocyte antigen 96 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 1302994 Pa2g4 proliferation-associated 2G4 gene DOID:630 genetic disease ISO RGD:1354307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302994 Pa2g4 proliferation-associated 2G4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1302994 Pa2g4 proliferation-associated 2G4 gene DOID:9000918 Disease Progression ISO RGD:1354307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1302996 RGD1302996 hypothetical protein MGC:15854 gene DOID:11372 megacolon ISO RGD:1348259 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:11372 megacolon ISO RGD:1349132 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:630 genetic disease ISO RGD:1349132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:9000217 Stomach Neoplasms ISO RGD:1349132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:9000918 Disease Progression ISO RGD:1349132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1302999 Ly6g6c lymphocyte antigen 6 family member G6C gene DOID:0050553 JMP syndrome ISO RGD:1344908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1302999 Ly6g6c lymphocyte antigen 6 family member G6C gene DOID:630 genetic disease ISO RGD:1344908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303000 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:7240710 20130221 OMIM 1303000 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3 PMID:18414213|PMID:19012874|PMID:25741868|PMID:28492532 1303000 Cdh15 cadherin 15 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1303000 Cdh15 cadherin 15 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1353127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1303000 Cdh15 cadherin 15 gene DOID:1059 intellectual disability ISO RGD:1353127 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1303000 Cdh15 cadherin 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1303000 Cdh15 cadherin 15 gene DOID:14780 KBG syndrome ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 1303000 Cdh15 cadherin 15 gene DOID:630 genetic disease ISO RGD:1353127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1303000 Cdh15 cadherin 15 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1353127 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1348314 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348314 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:7240710 20140911 OMIM 1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 2 PMID:23684010|PMID:25229252|PMID:25741868|PMID:28492532|PMID:31566882 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1350505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1350505 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:12849 autistic disorder ISO RGD:1350505 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:630 genetic disease ISO RGD:1350505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303002 Cops3 COP9 signalosome subunit 3 gene DOID:9005369 Hepatomegaly ISO RGD:1350505 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:0110266 cataract 9 multiple types ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:12849 autistic disorder ISO RGD:1343023 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343023 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343023 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:9263 homocystinuria ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303004 Tacc2 transforming, acidic coiled-coil containing protein 2 gene DOID:2340 craniosynostosis ISO RGD:1349981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1303004 Tacc2 transforming, acidic coiled-coil containing protein 2 gene DOID:630 genetic disease ISO RGD:1349981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1350452 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1350452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1350452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303006 Pfdn6 prefoldin subunit 6 gene DOID:0050553 JMP syndrome ISO RGD:1351314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303006 Pfdn6 prefoldin subunit 6 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351314 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1303006 Pfdn6 prefoldin subunit 6 gene DOID:630 genetic disease ISO RGD:1351314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303007 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:7240710 20190315 OMIM 1303007 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 PMID:28280134 1303007 Rpl35 ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1353068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303008 Msh5 mutS homolog 5 gene DOID:0050553 JMP syndrome ISO RGD:1343663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303008 Msh5 mutS homolog 5 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34755185 1303008 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:7240710 20190315 OMIM 1303008 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 13 PMID:28175301 1303008 Msh5 mutS homolog 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1343663 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1303008 Msh5 mutS homolog 5 gene DOID:14227 azoospermia ISO RGD:1343663 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1303008 Msh5 mutS homolog 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1343663 D RGD:126848786|PMID:28093084 20210430 RGD DNA:SNPs: :rs805304, rs707939 (human) 1303008 Msh5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 1303008 Msh5 mutS homolog 5 gene DOID:630 genetic disease ISO RGD:1343663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303008 Msh5 mutS homolog 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1343663 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1303008 Msh5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:7240710 20220720 OMIM 1303008 Msh5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 74 PMID:25741868|PMID:34755185 1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:731047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:543 dystonia ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:630 genetic disease ISO RGD:731047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1303011 Saraf store-operated calcium entry-associated regulatory factor gene DOID:630 genetic disease ISO RGD:1604621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303014 Gpsm3 G-protein signaling modulator 3 gene DOID:0050553 JMP syndrome ISO RGD:1343729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303014 Gpsm3 G-protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1343729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303015 Commd10 COMM domain containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303015 Commd10 COMM domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1346630 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303015 Commd10 COMM domain containing 10 gene DOID:630 genetic disease ISO RGD:1346630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303015 Commd10 COMM domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346630 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303015 Commd10 COMM domain containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1347363 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:11782 astigmatism ISO RGD:1347363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:33654309 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347363 D RGD:2317697|PMID:15548371 20100416 RGD mRNA, protein:increased expression:pancreatic duct 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347363 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:630 genetic disease ISO RGD:1347363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042853|PMID:27298561 20191217 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility IAGP D RGD:15042885|PMID:24416400 20191216 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) 1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:7998 hyperthyroidism IEP D RGD:2317698|PMID:17394799 20100416 RGD 1303019 Rpl17 ribosomal protein L17 gene DOID:1059 intellectual disability ISO RGD:1347180 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303019 Rpl17 ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1347180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303019 Rpl17 ribosomal protein L17 gene DOID:9007102 Myocardial Ischemia ISO RGD:1347180 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1303020 Rnase6 ribonuclease A family member k6 gene DOID:3602 toxic encephalopathy ISO RGD:1353772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 1303020 Rnase6 ribonuclease A family member k6 gene DOID:409 liver disease ISO RGD:1353772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 1303020 Rnase6 ribonuclease A family member k6 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1303020 Rnase6 ribonuclease A family member k6 gene DOID:630 genetic disease ISO RGD:1353772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303020 Rnase6 ribonuclease A family member k6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:10652 Alzheimer's disease ISO RGD:1343121 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:3526 cerebral infarction ISO RGD:1343121 D RGD:13464126|PMID:26171154 20171221 RGD DNA:SNP: :rs2075650 (human) 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:3910 lung adenocarcinoma ISO RGD:1343121 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:630 genetic disease ISO RGD:1343121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9003370 Dyslipidemias ISO RGD:1343121 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13463486|PMID:23255365 20171219 RGD protein:decreased expression:retina 1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9006205 Animal Disease Models ISO RGD:1343121 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1303023 Nudt2 nudix hydrolase 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1303023 Nudt2 nudix hydrolase 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1303023 Nudt2 nudix hydrolase 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1303023 Nudt2 nudix hydrolase 2 gene DOID:1059 intellectual disability ISO RGD:1352613 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 1303023 Nudt2 nudix hydrolase 2 gene DOID:630 genetic disease ISO RGD:1352613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303023 Nudt2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:7240710 20220629 OMIM 1303023 Nudt2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 1303023 Nudt2 nudix hydrolase 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1352613 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:27431290|PMID:30059600|PMID:33058507 1303023 Nudt2 nudix hydrolase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20533549 1303023 Nudt2 nudix hydrolase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303023 Nudt2 nudix hydrolase 2 gene DOID:9870 galactosemia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1303024 Krt83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:7240710 20221026 OMIM 1303024 Krt83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:8554872 20221025 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:15744029|PMID:25557232|PMID:25741868|PMID:28492532 1303024 Krt83 keratin 83 gene DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ISO RGD:1318342 D RGD:7240710 20221026 OMIM 1303024 Krt83 keratin 83 gene DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ISO RGD:1318342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 PMID:25741868|PMID:27965375|PMID:28492532 1303024 Krt83 keratin 83 gene DOID:630 genetic disease ISO RGD:1318342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:0050553 JMP syndrome ISO RGD:1350670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:11372 megacolon ISO RGD:1350670 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:630 genetic disease ISO RGD:1350670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1350670 D RGD:14390152|PMID:25111513 20190221 RGD DNA:haplotype: :rs11538264(human) 1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350670 D RGD:2306963|PMID:15842729 20090513 RGD DNA:polymorphism 1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1350670 D RGD:2306964|PMID:10987645 20090513 RGD DNA:polymorphism 1303027 C5ar2 complement C5a receptor 2 gene DOID:630 genetic disease ISO RGD:1354173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344494 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:12849 autistic disorder ISO RGD:1344494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:630 genetic disease ISO RGD:1344494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344494 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1344494 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 1303029 Phactr3 phosphatase and actin regulator 3 gene DOID:630 genetic disease ISO RGD:1605886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303030 Tlr6 toll-like receptor 6 gene DOID:0060000 infective endocarditis susceptibility ISO RGD:1344850 D RGD:127229900|PMID:25213166 20210602 RGD DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) 1303030 Tlr6 toll-like receptor 6 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344850 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1303030 Tlr6 toll-like receptor 6 gene DOID:1024 leprosy ISO RGD:1344850 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 1303030 Tlr6 toll-like receptor 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552386 D RGD:4889534|PMID:19019963 20101203 RGD 1303030 Tlr6 toll-like receptor 6 gene DOID:13564 aspergillosis susceptibility ISO RGD:1344850 D RGD:4889535|PMID:16461792 20101203 RGD DNA:SNP: :p.S249P (human) 1303030 Tlr6 toll-like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:4889528|PMID:18547625 20101203 RGD DNA:SNP (human) 1303030 Tlr6 toll-like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:4889538|PMID:15266299 20101203 RGD DNA:SNP: :p.S249P (human) 1303030 Tlr6 toll-like receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1552386 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 1303030 Tlr6 toll-like receptor 6 gene DOID:399 tuberculosis susceptibility ISO RGD:1320607 D RGD:7246918|PMID:18091991 20130624 RGD DNA:missense mutations:cds:multiple (human) 1303030 Tlr6 toll-like receptor 6 gene DOID:4483 rhinitis ISO RGD:1344850 D RGD:4145352|PMID:20815312 20101203 RGD associated with Asthma;DNA:SNP: :rs2381289 (human) 1303030 Tlr6 toll-like receptor 6 gene DOID:630 genetic disease ISO RGD:1344850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303030 Tlr6 toll-like receptor 6 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1552386 D RGD:4889532|PMID:20070409 20101203 RGD 1303030 Tlr6 toll-like receptor 6 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20101203 RGD mRNA:increased expression:ileum 1303030 Tlr6 toll-like receptor 6 gene DOID:874 bacterial pneumonia IDA D RGD:4889533|PMID:19844782 20101203 RGD 1303030 Tlr6 toll-like receptor 6 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1344850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1303030 Tlr6 toll-like receptor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 1303030 Tlr6 toll-like receptor 6 gene DOID:9004484 Sepsis ISO RGD:1344850 D RGD:155900762|PMID:31002148 20230215 RGD mRNA:increased expression:plasma 1303030 Tlr6 toll-like receptor 6 gene DOID:9005372 Inflammation IDA D RGD:4889539|PMID:16154916 20101203 RGD 1303030 Tlr6 toll-like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1552386 D RGD:4889537|PMID:20016195 20101203 RGD associated with Respiratory Hypersensitivity 1303031 Crat carnitine O-acetyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1303031 Crat carnitine O-acetyltransferase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:28492532|PMID:29395073 1303031 Crat carnitine O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303031 Crat carnitine O-acetyltransferase gene DOID:9008371 Carnitine Acetyltransferase Deficiency ISO RGD:1350289 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY PMID:28492532|PMID:31448845 1303031 Crat carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:7240710 20190315 OMIM 1303031 Crat carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 PMID:25741868|PMID:28492532|PMID:29395073 1303032 Krt39 keratin 39 gene DOID:630 genetic disease ISO RGD:1604916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303034 Gpn3 GPN-loop GTPase 3 gene DOID:630 genetic disease ISO RGD:1606002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303035 Kif5a kinesin family member 5A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347916 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20386726|PMID:25008398|PMID:25741868|PMID:29892902 1303035 Kif5a kinesin family member 5A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1550437 D RGD:12798528|PMID:23006449 20170324 RGD mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) 1303035 Kif5a kinesin family member 5A gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25741868|PMID:28492532|PMID:32579787 1303035 Kif5a kinesin family member 5A gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793061|PMID:18245137 20170320 RGD DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human) 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793065|PMID:12355402 20170320 RGD DNA:missense mutation:cds:p.N256S (human) 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793068|PMID:25352184 20170320 RGD DNA:missense mutation:cds:p.R162W (human) 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793069|PMID:26374131 20170320 RGD DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human) 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12859090|PMID:24939576 20170412 RGD DNA:missense mutation:cds:p.L259Q (human) 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12859091|PMID:15452312 20170412 RGD DNA:missense mutation:cds:p.R280C (human) 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:7240710 20230517 OMIM 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:12355402|PMID:15452312|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26543653|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:9536098 1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1550437 D RGD:12793060|PMID:22466687 20170320 RGD 1303035 Kif5a kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:11062257|PMID:23265383 20170320 RGD DNA:mutations:multiple (human) 1303035 Kif5a kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303035 Kif5a kinesin family member 5A gene DOID:12859 choreatic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:25741868|PMID:28492532 1303035 Kif5a kinesin family member 5A gene DOID:1826 epilepsy ISO RGD:1550437 D RGD:12859092|PMID:23217743 20170412 RGD 1303035 Kif5a kinesin family member 5A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347916 D RGD:12793067|PMID:20508602 20170320 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) 1303035 Kif5a kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28708278|PMID:28832565|PMID:29892902|PMID:31211173|PMID:31403080|PMID:31475037 1303035 Kif5a kinesin family member 5A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:26467025|PMID:28492532 1303035 Kif5a kinesin family member 5A gene DOID:5214 demyelinating polyneuropathy ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Demyelinating peripheral neuropathy PMID:15452312|PMID:18853458|PMID:25008398|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29892902 1303035 Kif5a kinesin family member 5A gene DOID:5419 schizophrenia ISO RGD:1347916 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1303035 Kif5a kinesin family member 5A gene DOID:574 peripheral nervous system disease ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 1303035 Kif5a kinesin family member 5A gene DOID:607 paraplegia ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15452312|PMID:16199547|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25640679|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26403765|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27414745|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29342275|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30778698|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:31612903|PMID:32579787|PMID:32815063|PMID:32888732|PMID:33589474|PMID:9536098 1303035 Kif5a kinesin family member 5A gene DOID:630 genetic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532 1303035 Kif5a kinesin family member 5A gene DOID:6846 familial melanoma ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1303035 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1303035 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:12793073|PMID:21784728 20170321 RGD DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) 1303035 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1347916 D RGD:12793072|PMID:23378462 20170321 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) 1303035 Kif5a kinesin family member 5A gene DOID:7596 asbestos-related lung carcinoma susceptibility ISO RGD:1347916 D RGD:12793066|PMID:21231887 20170320 RGD protein:increased expression:serum (human) 1303035 Kif5a kinesin family member 5A gene DOID:870 neuropathy ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 1303035 Kif5a kinesin family member 5A gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 1303035 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1303035 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:7240710 20230517 OMIM 1303035 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:24215330|PMID:24731568|PMID:25008398|PMID:25741868|PMID:26374131|PMID:26543653|PMID:27414745|PMID:27463701|PMID:28492532|PMID:28678816 1303035 Kif5a kinesin family member 5A gene DOID:9009136 Amyotrophic Lateral Sclerosis Type 25 ISO RGD:1347916 D RGD:7240710 20230517 OMIM 1303035 Kif5a kinesin family member 5A gene DOID:9009136 Amyotrophic Lateral Sclerosis Type 25 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:29342275|PMID:29566793|PMID:32815063|PMID:9536098 1303036 Rpap3 RNA polymerase II associated protein 3 gene DOID:630 genetic disease ISO RGD:1603005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303037 Tmem106b transmembrane protein 106B gene DOID:0080600 COVID-19 ISO RGD:1603394 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33686287 1303037 Tmem106b transmembrane protein 106B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603394 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303037 Tmem106b transmembrane protein 106B gene DOID:630 genetic disease ISO RGD:1603394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303037 Tmem106b transmembrane protein 106B gene DOID:8725 vascular dementia ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 1303037 Tmem106b transmembrane protein 106B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 1303037 Tmem106b transmembrane protein 106B gene DOID:9009170 Hypomyelinating Leukodystrophy 16 ISO RGD:1603394 D RGD:7240710 20190315 OMIM 1303037 Tmem106b transmembrane protein 106B gene DOID:9009170 Hypomyelinating Leukodystrophy 16 ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021 1303038 G4 G4 protein gene DOID:0050553 JMP syndrome ISO RGD:1354435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303038 G4 G4 protein gene DOID:11372 megacolon ISO RGD:1354435 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303038 G4 G4 protein gene DOID:630 genetic disease ISO RGD:1354435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303039 Ece2 endothelin-converting enzyme 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1349338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1303039 Ece2 endothelin-converting enzyme 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1349338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1303039 Ece2 endothelin-converting enzyme 2 gene DOID:0111546 Currarino syndrome ISO RGD:1349338 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1303039 Ece2 endothelin-converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1349338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30755392|PMID:31319225|PMID:31624253|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1348620 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27723758 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348620 D RGD:11537389|PMID:18782849 20161003 RGD DNA:SNPs, haplotype 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15322546|PMID:15467982|PMID:16199547|PMID:16453322|PMID:20301500|PMID:25616960|PMID:25741868|PMID:26035800|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32865313 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11343130|PMID:26541515 20161003 RGD DNA:nonsense mutation:cds:c.910dup (human) 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537346|PMID:18054307 20160930 RGD DNA:missense mutation, nonsense mutations:exon:multiple 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537387|PMID:16453322 20161003 RGD DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537388|PMID:15322546 20161003 RGD DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human) 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537395|PMID:18268248 20161004 RGD DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human) 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:1304518|PMID:15467982 20160930 RGD DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human) 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:1598905|PMID:16155189 20061220 RGD DNA:missense mutation, nonsense mutations:exon:multiple 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:7240710 20130221 OMIM 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16240161|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25558065|PMID:25616960|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:29343940|PMID:31130284|PMID:31624253|PMID:32165824|PMID:32865313|PMID:34191236|PMID:34906502|PMID:9536098 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1552406 D RGD:11537390|PMID:21623382 20161003 RGD 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1348620 D RGD:7246903|PMID:17409309 20160930 RGD DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) 1303040 Ahi1 Abelson helper integration site 1 gene DOID:0111589 COACH syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome with ocular defect PMID:15322546|PMID:16453322|PMID:18054307|PMID:21623382|PMID:21937992|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 1303040 Ahi1 Abelson helper integration site 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1348620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236 1303040 Ahi1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1303040 Ahi1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16453322|PMID:25741868|PMID:28492532 1303040 Ahi1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 1303040 Ahi1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISS RGD:1552406 D RGD:13592920 20180518 MouseDO 1303040 Ahi1 Abelson helper integration site 1 gene DOID:12849 autistic disorder ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18782849 1303040 Ahi1 Abelson helper integration site 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1348620 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:32165824 1303040 Ahi1 Abelson helper integration site 1 gene DOID:2786 cerebellar disease ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 1303040 Ahi1 Abelson helper integration site 1 gene DOID:5419 schizophrenia ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 1303040 Ahi1 Abelson helper integration site 1 gene DOID:630 genetic disease ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15322546|PMID:16453322|PMID:17409309|PMID:17576681|PMID:21068128|PMID:22693042|PMID:25741868|PMID:28442542|PMID:28492532|PMID:29186038|PMID:9536098 1303040 Ahi1 Abelson helper integration site 1 gene DOID:8466 retinal degeneration ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20081859 1303040 Ahi1 Abelson helper integration site 1 gene DOID:8501 fundus dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:18054307|PMID:21068128|PMID:21937992|PMID:24033266|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28041643|PMID:28442542|PMID:28492532|PMID:29186038|PMID:34191236 1303040 Ahi1 Abelson helper integration site 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15322546|PMID:23532844|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30755392 1303040 Ahi1 Abelson helper integration site 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1348620 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 1303040 Ahi1 Abelson helper integration site 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348620 D RGD:11537398|PMID:20045148 20161004 RGD mRNA:increased expression:vastus lateralis 1303040 Ahi1 Abelson helper integration site 1 gene DOID:9970 obesity ISO RGD:1348620 D RGD:11537398|PMID:20045148 20161004 RGD mRNA:increased expression:vastus lateralis 1303041 Pclaf PCNA clamp associated factor gene DOID:0110935 nemaline myopathy 6 ISO RGD:1353661 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1303041 Pclaf PCNA clamp associated factor gene DOID:2717 Bloom syndrome ISO RGD:1353661 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1303041 Pclaf PCNA clamp associated factor gene DOID:630 genetic disease ISO RGD:1353661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303041 Pclaf PCNA clamp associated factor gene DOID:684 hepatocellular carcinoma ISO RGD:1353661 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1303041 Pclaf PCNA clamp associated factor gene DOID:9256 colorectal cancer ISO RGD:1353661 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1303043 Clic1 chloride intracellular channel 1 gene DOID:0050553 JMP syndrome ISO RGD:1353337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303043 Clic1 chloride intracellular channel 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353337 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1303043 Clic1 chloride intracellular channel 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1303043 Clic1 chloride intracellular channel 1 gene DOID:630 genetic disease ISO RGD:1353337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303043 Clic1 chloride intracellular channel 1 gene DOID:8398 osteoarthritis ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1303043 Clic1 chloride intracellular channel 1 gene DOID:9000058 Keloid ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1303043 Clic1 chloride intracellular channel 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 1303043 Clic1 chloride intracellular channel 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303043 Clic1 chloride intracellular channel 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 1303044 Krt15 keratin 15 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1303044 Krt15 keratin 15 gene DOID:630 genetic disease ISO RGD:1342638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303044 Krt15 keratin 15 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1303044 Krt15 keratin 15 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1342638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 1303046 Mtif2 mitochondrial translational initiation factor 2 gene DOID:630 genetic disease ISO RGD:1347555 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303047 Fscn3 fascin actin-bundling protein 3 gene DOID:10892 hypospadias ISO RGD:1353847 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 1303047 Fscn3 fascin actin-bundling protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353847 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303047 Fscn3 fascin actin-bundling protein 3 gene DOID:630 genetic disease ISO RGD:1353847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:1074 kidney failure IEP D RGD:1303977|PMID:14993604 20171110 RGD mRNA:decreased expression:kidney 1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:630 genetic disease ISO RGD:1354473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354473 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:1459 hypothyroidism IEP D RGD:11522362|PMID:10582581 20171222 RGD mRNA:increased expression:striatum 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure IDA D RGD:13464132|PMID:24395194 20171222 RGD protein:increased serine phosphorylation:heart, mitochondrion 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1343038 D RGD:13464131|PMID:25022898 20171222 RGD mRNA:decreased expression:heart 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:630 genetic disease ISO RGD:1343038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly IEP D RGD:13464131|PMID:25022898 20171222 RGD protein:decreased expression:left ventricle myocardium 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1551718 D RGD:13464131|PMID:25022898 20171222 RGD protein:decreased expression:heart 1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13463486|PMID:23255365 20171219 RGD protein:decreased expression:retina 1303050 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:0050553 JMP syndrome ISO RGD:1354226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303050 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1354226 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1303050 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1354226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303051 Gnl1 G protein nucleolar 1 gene DOID:11372 megacolon ISO RGD:1352530 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303051 Gnl1 G protein nucleolar 1 gene DOID:630 genetic disease ISO RGD:1352530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347156 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:12849 autistic disorder ISO RGD:1347156 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:630 genetic disease ISO RGD:1347156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347156 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:9563 bronchiectasis ISO RGD:1347156 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Bronchiectasis 1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:0080600 COVID-19 ISO RGD:1344103 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344103 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:630 genetic disease ISO RGD:1344103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:9002189 High Myopia ISO RGD:1344103 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1303054 Prss58 serine protease 58 gene DOID:630 genetic disease ISO RGD:1606966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303054 Prss58 serine protease 58 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606966 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1303055 Ubl7 ubiquitin-like 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1303055 Ubl7 ubiquitin-like 7 gene DOID:2717 Bloom syndrome ISO RGD:1602843 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1303055 Ubl7 ubiquitin-like 7 gene DOID:5419 schizophrenia ISO RGD:1602843 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303055 Ubl7 ubiquitin-like 7 gene DOID:630 genetic disease ISO RGD:1602843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303055 Ubl7 ubiquitin-like 7 gene DOID:9256 colorectal cancer ISO RGD:1602843 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1303057 Tmem178a transmembrane protein 178A gene DOID:3883 Lynch syndrome ISO RGD:1602302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1303057 Tmem178a transmembrane protein 178A gene DOID:630 genetic disease ISO RGD:1602302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303057 Tmem178a transmembrane protein 178A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303057 Tmem178a transmembrane protein 178A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602302 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303058 Chia chitinase, acidic gene DOID:0050127 sinusitis severity ISO RGD:1604020 D RGD:5037227|PMID:19379605 20110303 RGD mRNA:decreased expression:sinus, epithelial cell (human) 1303058 Chia chitinase, acidic gene DOID:10325 silicosis IEP D RGD:4893904|PMID:18685790 20110301 RGD mRNA:increased expression:lung (rat) 1303058 Chia chitinase, acidic gene DOID:12053 cryptococcosis IEP D RGD:4990459|PMID:18482441 20110301 RGD protein:increased expression:lung (rat) 1303058 Chia chitinase, acidic gene DOID:12849 autistic disorder ISO RGD:1604020 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:4985150|PMID:15192232 20110301 RGD mRNA:increased expression:lung, epithelial cell (human) 1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:4996473|PMID:16179638 20110301 RGD DNA:snps:5' utr, cds:multiple (human) 1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:4990463|PMID:14734765 20110301 RGD mRNA:increased expression:lung (mouse) 1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:5024921|PMID:19548841 20110302 RGD 1303058 Chia chitinase, acidic gene DOID:2841 asthma no_association ISO RGD:1604020 D RGD:5024922|PMID:20226308 20110302 RGD DNA:snps:multiple (human) 1303058 Chia chitinase, acidic gene DOID:630 genetic disease ISO RGD:1604020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303058 Chia chitinase, acidic gene DOID:9001472 Nasal Polyps ISO RGD:1604020 D RGD:5024927|PMID:16871939 20110302 RGD associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human) 1303058 Chia chitinase, acidic gene DOID:9003281 Spontaneous Abortions ISO RGD:1604020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1303058 Chia chitinase, acidic gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604020 D RGD:5037226|PMID:20422678 20110303 RGD mRNA, protein:increased expression:turbinate, mucosa (human) 1303058 Chia chitinase, acidic gene DOID:9005372 Inflammation ISO RGD:1615785 D RGD:5024919|PMID:17450126 20110302 RGD 1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0050553 JMP syndrome ISO RGD:1351044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:22444670|PMID:25741868|PMID:27050310|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:33098347|PMID:33249554|PMID:35607352 1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:7240710 20140903 OMIM 1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33098347|PMID:33249554|PMID:35607352 1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303060 Hyal1 hyaluronidase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1303060 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:7240710 20131030 OMIM 1303060 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase PMID:10339581|PMID:16199547|PMID:17576681|PMID:21559944|PMID:25741868|PMID:27424109|PMID:28492532|PMID:33942374|PMID:8793927|PMID:9536098 1303060 Hyal1 hyaluronidase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1303060 Hyal1 hyaluronidase 1 gene DOID:12798 mucopolysaccharidosis ISO RGD:1352194 D RGD:1599811|PMID:10339581 20070215 RGD mucopolysaccharidosis IX, OMIM:601492 1303060 Hyal1 hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303060 Hyal1 hyaluronidase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:9588633|PMID:19915162 20141103 RGD mRNA:decreased expression:lung 1303060 Hyal1 hyaluronidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352194 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1303060 Hyal1 hyaluronidase 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9588636|PMID:22529164 20141103 RGD 1303060 Hyal1 hyaluronidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303061 Cenpc centromere protein C gene DOID:0060218 CREST syndrome ISO RGD:1354407 D RGD:27372886|PMID:25220385 20200529 RGD associated with Anticentromere antibody positivity 1303061 Cenpc centromere protein C gene DOID:5082 liver cirrhosis ISO RGD:1354407 D RGD:27372886|PMID:25220385 20200529 RGD associated with Anticentromere antibody positivity 1303061 Cenpc centromere protein C gene DOID:630 genetic disease ISO RGD:1354407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303061 Cenpc centromere protein C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354407 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303062 Katna1 katanin catalytic subunit A1 gene DOID:630 genetic disease ISO RGD:1353857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303064 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:0050553 JMP syndrome ISO RGD:1354154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303064 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:11372 megacolon ISO RGD:1354154 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303064 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:630 genetic disease ISO RGD:1354154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303065 Spata4 spermatogenesis associated 4 gene DOID:630 genetic disease ISO RGD:1348615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303065 Spata4 spermatogenesis associated 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348615 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:11372 megacolon ISO RGD:1347627 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:9002189 High Myopia ISO RGD:1347627 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347627 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:736450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0050908 myelodysplastic syndrome ISO RGD:736450 D RGD:11352253|PMID:24264604 20160712 RGD 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:736450 D RGD:11040774|PMID:21564078 20160315 RGD DNA:polymorphism: : 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0060901 lymphoplasmacytic lymphoma treatment ISO RGD:736450 D RGD:11352262|PMID:15659493 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0081267 graft-versus-host disease ISO RGD:736450 D RGD:11040884|PMID:20400988 20160316 RGD DNA:polymorphism:cds:p. V158F(rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:7240710 20140911 OMIM 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity PMID:23006327|PMID:24033266|PMID:25741868|PMID:8608639|PMID:8609432|PMID:8874200 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1037 lymphoid leukemia no_association ISO RGD:736450 D RGD:11344968|PMID:15217834 20160711 RGD DNA:polymorphism:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:10608 celiac disease ISO RGD:736450 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:10952 nephritis ISO RGD:1550776 D RGD:5508402|PMID:16520389 20111014 RGD 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:11832 visual epilepsy susceptibility ISO RGD:736450 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1205 allergic disease treatment ISO RGD:736450 D RGD:11352264|PMID:22025730 20160712 RGD associated with Purpura, Thrombocytopenic, Idiopathic 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:13241 Behcet's disease susceptibility ISO RGD:736450 D RGD:5508432|PMID:19026120 20111017 RGD DNA:SNP:exon:p.F158V (rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:13375 temporal arteritis ISO RGD:736450 D RGD:5147974|PMID:16846526 20110830 RGD DNA:polymorphism (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1389 polyneuropathy treatment ISO RGD:736450 D RGD:11352254|PMID:24487381 20160712 RGD associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1540 parathyroid carcinoma ISO RGD:736450 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1587 thrombocytopenia due to platelet alloimmunization treatment ISO RGD:736450 D RGD:11040770|PMID:22775462 20160315 RGD DNA:SNP:cds: 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2377 multiple sclerosis disease_progression ISO RGD:736450 D RGD:5508375|PMID:18155780 20111013 RGD protein:increased expression:gamma-delta T cell 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2841 asthma susceptibility ISO RGD:736450 D RGD:5508449|PMID:18199088 20111018 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2921 glomerulonephritis ISO RGD:1550776 D RGD:5508439|PMID:19050295 20111018 RGD 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2921 glomerulonephritis susceptibility ISO RGD:736450 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736450 D RGD:5508463|PMID:16221721 20111018 RGD DNA:polymorphism:exon:p.F176V(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:3393 coronary artery disease susceptibility ISO RGD:736450 D RGD:5508464|PMID:15910853 20111018 RGD DNA:SNP:exon:p.F158V (rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:4481 allergic rhinitis susceptibility ISO RGD:736450 D RGD:5508449|PMID:18199088 20111018 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736450 D RGD:5508400|PMID:19946017 20111014 RGD DNA:cnv: : 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:4780 anti-basement membrane glomerulonephritis no_association ISO RGD:736450 D RGD:5508403|PMID:19640933 20111014 RGD DNA:polymorphism:exon:(rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:736450 D RGD:5508390|PMID:21187939 20111014 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:552 pneumonia treatment ISO RGD:736450 D RGD:11352258|PMID:20423913 20160712 RGD associated with Hodgkin Disease;DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:614 lymphopenia susceptibility ISO RGD:736450 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:630 genetic disease ISO RGD:736450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:633 myositis susceptibility ISO RGD:736450 D RGD:5508428|PMID:19493236 20111017 RGD DNA:SNP:exon:p.F158V (rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7147 ankylosing spondylitis severity ISO RGD:736450 D RGD:5508388|PMID:8453794 20111014 RGD protein:decreased expression:polymorphonuclear leucocyte 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:11344974|PMID:25154742 20160711 RGD DNA:CNVs 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:5508467|PMID:15334114 20111018 RGD protein:decreased expression:NK cell 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736450 D RGD:5508391|PMID:19019892 20111014 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:848 arthritis ISO RGD:736450 D RGD:5508443|PMID:19005160 20111018 RGD DNA:SNP:exon:F158V (rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:848 arthritis susceptibility ISO RGD:736450 D RGD:5508432|PMID:19026120 20111017 RGD associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8778 Crohn's disease treatment ISO RGD:736450 D RGD:1304543|PMID:14987319 20160713 RGD DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736450 D RGD:11040776|PMID:11380443 20160315 RGD DNA:SNP:cds:p.V158F(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:736450 D RGD:11040989|PMID:22123287 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1550776 D RGD:11344926|PMID:15479722 20160708 RGD 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:736450 D RGD:11352255|PMID:23484707 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:736450 D RGD:11352260|PMID:14563637 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia treatment ISO RGD:736450 D RGD:11344967|PMID:27282998 20160711 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:11344964|PMID:21883784 20160711 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:11344973|PMID:19933905 20160711 RGD associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:11352256|PMID:20730791 20160712 RGD associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004792 Familial Mixed Cryoglobulinemia treatment ISO RGD:736450 D RGD:11344956|PMID:21538321 20160711 RGD DNA:polymorphism: :p.V176F (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:736450 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9008208 Heparin-induced Thrombocytopenia susceptibility ISO RGD:736450 D RGD:11040991|PMID:15191947 20160318 RGD DNA:SNP:cds:p.V158F(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9008765 Malarial Anemia severity ISO RGD:736450 D RGD:11040771|PMID:20231419 20160711 RGD 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:736450 D RGD:11344971|PMID:23045477 20160711 RGD DNA:polymorphism: :p.F176V (human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9009008 Temporomandibular Joint Dysfunction Syndrome IMP D RGD:5508377|PMID:20589683 20111011 RGD 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:11344974|PMID:25154742 20160711 RGD DNA:CNVs 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:5508389|PMID:21370226 20111014 RGD protein:decreased expression:NK cell 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736450 D RGD:5508444|PMID:18625651 20111018 RGD DNA:SNPs:exon:rs403016,rs428888(human) 1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736450 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5419 schizophrenia ISO RGD:1353529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1353529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353529 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9006549 Enterovirus Infections ISO RGD:1353529 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9007661 Dwarfism ISO RGD:1353529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1303069 Nup35 nucleoporin 35 gene DOID:0080072 intestinal pseudo-obstruction ISS RGD:1550583 D RGD:13592920 20200702 MouseDO 1303069 Nup35 nucleoporin 35 gene DOID:10316 pneumoconiosis ISO RGD:1353367 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1303069 Nup35 nucleoporin 35 gene DOID:13938 amenorrhea ISO RGD:1353367 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1303069 Nup35 nucleoporin 35 gene DOID:630 genetic disease ISO RGD:1353367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303071 Akap7 A-kinase anchoring protein 7 gene DOID:303 substance-related disorder ISO RGD:1350760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1303071 Akap7 A-kinase anchoring protein 7 gene DOID:630 genetic disease ISO RGD:1350760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303073 Xbp1 X-box binding protein 1 gene DOID:0050589 inflammatory bowel disease ISS RGD:1332312 D RGD:13592920 20180518 MouseDO 1303073 Xbp1 X-box binding protein 1 gene DOID:0050770 polycystic liver disease ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 1303073 Xbp1 X-box binding protein 1 gene DOID:0060478 Zika fever ISO RGD:1332312 D RGD:32733625|PMID:30241539 20200701 RGD protein:increased expression:cerebellum, mesocephalon 1303073 Xbp1 X-box binding protein 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 1303073 Xbp1 X-box binding protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1352787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1303073 Xbp1 X-box binding protein 1 gene DOID:10603 glucose intolerance ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27325692 1303073 Xbp1 X-box binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1352787 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 1303073 Xbp1 X-box binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 1303073 Xbp1 X-box binding protein 1 gene DOID:5154 borna disease IEP D RGD:32733622|PMID:16912310 20200701 RGD mRNA,protein:altered expression:cerebellum,hippocampus 1303073 Xbp1 X-box binding protein 1 gene DOID:630 genetic disease ISO RGD:1352787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303073 Xbp1 X-box binding protein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1352787 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 1303073 Xbp1 X-box binding protein 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1352787 D RGD:32716425|PMID:26234401 20200630 RGD mRNA, protein:decreased expression:liver 1303073 Xbp1 X-box binding protein 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1352787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 1303073 Xbp1 X-box binding protein 1 gene DOID:9002488 Peritoneal Fibrosis treatment IEP D RGD:32733624|PMID:31836774 20200701 RGD 1303073 Xbp1 X-box binding protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1352787 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 1303073 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1303073 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Major affective disorder 7 1303073 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 susceptibility ISO RGD:1352787 D RGD:7240710 20190502 OMIM 1303073 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1332312 D RGD:2326004|PMID:15486293 20100616 RGD 1303073 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27325692 1303073 Xbp1 X-box binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1303073 Xbp1 X-box binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1354312 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:2843 long QT syndrome ISO RGD:1354312 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:5419 schizophrenia ISO RGD:1354312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:630 genetic disease ISO RGD:1354312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:2377 multiple sclerosis ISO RGD:1346893 D RGD:5686803|PMID:14688203 20120126 RGD 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:10445835|PMID:24670792 20151204 RGD protein:decreased expression:lung (rat) 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346893 D RGD:152177907|PMID:24796583 20220519 RGD protein:increased expression:liver (human) 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:4989 pancreatitis IEP D RGD:5686868|PMID:19346995 20120130 RGD mRNA:increased expression:lung (rat) 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:630 genetic disease ISO RGD:1346893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:767 muscular atrophy IEP D RGD:5686383|PMID:21639837 20120120 RGD mRNA:decreased expression:soleus muscle (rat) 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10445836|PMID:24499940 20151204 RGD protein:decreased expression:spinal cord (rat) 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9007456 Female Infertility ISO RGD:1346893 D RGD:10445839|PMID:19022436 20151204 RGD 1303076 Sh2d2a SH2 domain containing 2A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1303076 Sh2d2a SH2 domain containing 2A gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1345635 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868 1303076 Sh2d2a SH2 domain containing 2A gene DOID:0080600 COVID-19 ISO RGD:1345635 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303076 Sh2d2a SH2 domain containing 2A gene DOID:0111940 immunodeficiency 42 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1303076 Sh2d2a SH2 domain containing 2A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1303076 Sh2d2a SH2 domain containing 2A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1345635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1303076 Sh2d2a SH2 domain containing 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1345635 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303076 Sh2d2a SH2 domain containing 2A gene DOID:2377 multiple sclerosis ISO RGD:1345635 D RGD:1358573|PMID:11528519 19990101 RGD DNA:repeat:promoter:-341(GA)13-33 (human) 1303076 Sh2d2a SH2 domain containing 2A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:18554728|REF_RGD_ID:2298871 1303076 Sh2d2a SH2 domain containing 2A gene DOID:5812 MHC class II deficiency ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1303076 Sh2d2a SH2 domain containing 2A gene DOID:630 genetic disease ISO RGD:1345635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303076 Sh2d2a SH2 domain containing 2A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345635 D RGD:2298870|PMID:15129233 20080729 RGD 1303076 Sh2d2a SH2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345635 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:630 genetic disease ISO RGD:1606769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606769 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303078 Krt76 keratin 76 gene DOID:630 genetic disease ISO RGD:1605387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:12849 autistic disorder ISO RGD:1606525 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:5419 schizophrenia ISO RGD:1552604 D RGD:11536055|PMID:26240432 20190221 RGD 1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:630 genetic disease ISO RGD:1606525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:17430113 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:7240710 20130221 OMIM 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:10888890|PMID:11109371|PMID:12370476|PMID:15883308|PMID:17125796|PMID:20500450|PMID:22082900|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:31996268 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:409 liver disease ISO RGD:1351113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:630 genetic disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:7148 rheumatoid arthritis treatment IEP D RGD:127229930|PMID:27049384 20210603 RGD 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:9008023 Memory Disorders ISO RGD:1351113 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868 1303082 Fcar Fc alpha receptor gene DOID:0050855 renal fibrosis ISO RGD:1344251 D RGD:7242172|PMID:18250479 20130327 RGD 1303082 Fcar Fc alpha receptor gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1344251 D RGD:7242064|PMID:22147912 20130326 RGD 1303082 Fcar Fc alpha receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:1344251 D RGD:7242063|PMID:22451718 20130326 RGD 1303082 Fcar Fc alpha receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:1344251 D RGD:7242167|PMID:21985370 20130327 RGD 1303082 Fcar Fc alpha receptor gene DOID:630 genetic disease ISO RGD:1344251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303084 Pbx2 PBX homeobox 2 gene DOID:0050553 JMP syndrome ISO RGD:1350680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303084 Pbx2 PBX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303085 Nop53 NOP53 ribosome biogenesis factor gene DOID:11612 polycystic ovary syndrome ISO RGD:1353107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1303085 Nop53 NOP53 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1353107 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:11038734|PMID:11050011 20160223 RGD DNA:missense mutation:exon:p.E433K (1305G>A) (human) 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:11038735|PMID:11843825 20160223 RGD DNA:missense mutation:exon:p.V411L (1299G>C) (human) 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21326867 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:7240710 20130221 OMIM 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia PMID:10196363|PMID:11050011|PMID:11843825|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:4045952|PMID:9536098 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia susceptibility ISO RGD:1351480 D RGD:1598600|PMID:10196363 20061206 RGD DNA:missense mutation: :p.I400M (human) 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351480 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1351480 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:12849 autistic disorder ISO RGD:1351480 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:630 genetic disease ISO RGD:1351480 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26242992 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:11038732|PMID:18398482 20160223 RGD 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16892088|PMID:18637800 1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:9004866 Ataxia ISO RGD:1351480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16892088 1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:2234 focal epilepsy ISO RGD:1350341 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:630 genetic disease ISO RGD:1350341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1303089 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:7240710 20130221 OMIM 1303089 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meretoja syndrome PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 1303089 Gsn gelsolin gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1550660 D RGD:329333016|PMID:19669398 20230426 RGD 1303089 Gsn gelsolin gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1346375 D RGD:329337339|PMID:24239294 20230427 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:11476 osteoporosis ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1303089 Gsn gelsolin gene DOID:1459 hypothyroidism IEP D RGD:1599872|PMID:2848627 20070219 RGD Protein:increased expression:cochlea 1303089 Gsn gelsolin gene DOID:3525 middle cerebral artery infarction ISO RGD:1550660 D RGD:329333031|PMID:18234195 20230426 RGD 1303089 Gsn gelsolin gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1550660 D RGD:329333033|PMID:9927495 20230426 RGD 1303089 Gsn gelsolin gene DOID:3526 cerebral infarction severity ISO RGD:1346375 D RGD:329337334|PMID:21481565 20230427 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:5844 myocardial infarction ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human) 1303089 Gsn gelsolin gene DOID:5844 myocardial infarction ameliorates IEP D RGD:329333030|PMID:28622474 20230426 RGD 1303089 Gsn gelsolin gene DOID:60001 pulmonary artery disease severity ISO RGD:1550660 D RGD:329333024|PMID:12654637 20230426 RGD associated with ischemia 1303089 Gsn gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098 1303089 Gsn gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 1303089 Gsn gelsolin gene DOID:8481 rheumatic myocarditis ISO RGD:1346375 D RGD:329333026|PMID:25403731 20230426 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:850 lung disease IEP D RGD:1599873|PMID:2829631 20070219 RGD Protein:increased expression:plasma 1303089 Gsn gelsolin gene DOID:9000438 Subarachnoid Hemorrhage disease_progression IEP D RGD:11055426|PMID:25744577 20230425 RGD mRNA, protein:altered expression:cerebral cortex (rat) 1303089 Gsn gelsolin gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1346375 D RGD:329333027|PMID:23880145 20230426 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:9000815 Aortic Calcification disease_progression ISO RGD:1346375 D RGD:329336117|PMID:26941566 20230427 RGD protein:decreased expression:blood (human) 1303089 Gsn gelsolin gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1550660 D RGD:329337382|PMID:28755273 20230502 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:9000998 Brain Injuries IEP D RGD:1599864|PMID:14588109 20070219 RGD 1303089 Gsn gelsolin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1599866|PMID:14574581 20070219 RGD mRNA, protein:increased expression 1303089 Gsn gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303089 Gsn gelsolin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1303089 Gsn gelsolin gene DOID:9002599 Basal Ganglia Hemorrhage severity ISO RGD:1346375 D RGD:329333032|PMID:23142649 20230426 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:9003121 Thromboembolism ameliorates ISO RGD:1346375 D RGD:329333020|PMID:31002695 20230426 RGD human gene in mouse model 1303089 Gsn gelsolin gene DOID:9003565 Paratuberculosis ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 1303089 Gsn gelsolin gene DOID:9003566 Mesothelioma ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 1303089 Gsn gelsolin gene DOID:9003646 Arterial Thrombosis ameliorates ISO RGD:1346375 D RGD:329333020|PMID:31002695 20230426 RGD human gene in mouse model 1303089 Gsn gelsolin gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1346375 D RGD:329333029|PMID:29466895 20230426 RGD protein:decreased expression:blood plasma (human) 1303089 Gsn gelsolin gene DOID:9003936 Cardiomegaly ISO RGD:1346375 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30240538 1303089 Gsn gelsolin gene DOID:9003936 Cardiomegaly treatment IEP D RGD:329333015|PMID:30240538 20230426 RGD 1303089 Gsn gelsolin gene DOID:9004484 Sepsis ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human) 1303089 Gsn gelsolin gene DOID:9004492 Familial Amyloidosis ISO RGD:1346375 D RGD:1599858|PMID:2175344 20070219 RGD DNA:point mutation: ;654G>A 1303089 Gsn gelsolin gene DOID:9004590 Acute Liver Failure ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human) 1303089 Gsn gelsolin gene DOID:9004657 Weight Gain ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1303089 Gsn gelsolin gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1599869|PMID:8895730 20070219 RGD mRNA:decreased expression 1303089 Gsn gelsolin gene DOID:9006646 Metabolic Syndrome severity ISO RGD:1550660 D RGD:329333017|PMID:29684438 20230426 RGD 1303089 Gsn gelsolin gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1550660 D RGD:329333014|PMID:19246681 20230426 RGD 1303089 Gsn gelsolin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 1303089 Gsn gelsolin gene DOID:9008652 Postoperative Atrial Fibrillation susceptibility ISO RGD:1346375 D RGD:329337380|PMID:27923400 20230502 RGD DNA:SNP:: (rs2230287) (human) 1303089 Gsn gelsolin gene DOID:9120 amyloidosis ISO RGD:1346375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 1303089 Gsn gelsolin gene DOID:9159 gas gangrene ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human) 1303090 Rpp21 ribonuclease P/MRP subunit p21 gene DOID:11372 megacolon ISO RGD:1346051 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303090 Rpp21 ribonuclease P/MRP subunit p21 gene DOID:630 genetic disease ISO RGD:1346051 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:630 genetic disease ISO RGD:1346775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine ISO RGD:1346775 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism 1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine ISO RGD:1346775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346 1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine susceptibility ISO RGD:1346775 D RGD:7240710 20220216 OMIM 1303093 Tmem35a transmembrane protein 35A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345227 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303093 Tmem35a transmembrane protein 35A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1303093 Tmem35a transmembrane protein 35A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1303093 Tmem35a transmembrane protein 35A gene DOID:12849 autistic disorder ISO RGD:1345227 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303093 Tmem35a transmembrane protein 35A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1303094 Ablim2 actin binding LIM protein family, member 2 gene DOID:630 genetic disease ISO RGD:1349528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303094 Ablim2 actin binding LIM protein family, member 2 gene DOID:9002189 High Myopia ISO RGD:1349528 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1303095 Zbtb1 zinc finger and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1343689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303096 Fut8 fucosyltransferase 8 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344316 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1303096 Fut8 fucosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1344316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29304374 1303096 Fut8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:7240710 20190315 OMIM 1303096 Fut8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29304374 1303096 Fut8 fucosyltransferase 8 gene DOID:9675 pulmonary emphysema ISS RGD:1550689 D RGD:13592920 20180518 MouseDO OMIM:130700 1303097 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:630 genetic disease ISO RGD:1351553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303097 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351553 D RGD:2307362|PMID:14764791 20090528 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr 1303097 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351553 D RGD:2307362|PMID:14764791 20090528 RGD DNA:missense mutation, SNPs:exon, 3' utr:multiple 1303098 Cpa5 carboxypeptidase A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345322 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303098 Cpa5 carboxypeptidase A5 gene DOID:630 genetic disease ISO RGD:1345322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303099 Rasl11b RAS-like family 11 member B gene DOID:630 genetic disease ISO RGD:1353496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1344115 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1344115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0080942 anauxetic dysplasia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1344115 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:10283 prostate cancer ISO RGD:1344115 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:630 genetic disease ISO RGD:1344115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1344115 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:9870 galactosemia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1303101 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:0050553 JMP syndrome ISO RGD:1349012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303101 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:11372 megacolon ISO RGD:1349012 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303101 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:630 genetic disease ISO RGD:1349012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303103 Snu13 small nuclear ribonucleoprotein 13 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1303103 Snu13 small nuclear ribonucleoprotein 13 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1347136 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29581108 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:17110455|PMID:18252229|PMID:25741868|PMID:28492532 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:14765194|PMID:20210733|PMID:20386359|PMID:20497562|PMID:20579077 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:7240710 20130221 OMIM 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080666 warfarin sensitivity IAGP D RGD:1303972|PMID:14765194 20180627 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat) 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080666 warfarin sensitivity ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604306 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14765194 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:1303972|PMID:14765194 20180627 RGD DNA:missense mutation: :p.R98W (human) 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:7240710 20160113 OMIM 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2 PMID:11154138|PMID:14765194|PMID:15358623|PMID:15883587|PMID:16270629|PMID:16270630|PMID:16611750|PMID:16676068|PMID:16879214|PMID:16890578|PMID:17049586|PMID:17110455|PMID:17189218|PMID:18252229|PMID:18315553|PMID:18466099|PMID:19344422|PMID:20128861|PMID:20653676|PMID:21127708|PMID:21326313|PMID:21635147|PMID:22349464|PMID:22992668|PMID:23039877|PMID:23208322|PMID:23990957|PMID:24019055|PMID:24838629|PMID:25084205|PMID:25126975|PMID:25594941|PMID:25741868|PMID:28492532 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:1247 blood coagulation disease ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:178 vascular disease ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:17031720|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18466099|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19074728|PMID:19077919|PMID:19177029|PMID:19225451|PMID:19270263|PMID:19297219|PMID:19794411|PMID:19874474|PMID:20020283|PMID:20128861|PMID:20203262|PMID:20376629|PMID:20555338|PMID:20585834|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21176721|PMID:21273734|PMID:21318593|PMID:21326313|PMID:21636598|PMID:21981797|PMID:22075505|PMID:22248286|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23159229|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:23990957|PMID:24019055|PMID:24224579|PMID:24474498|PMID:24728385|PMID:24919870|PMID:25001883|PMID:25026456|PMID:25244877|PMID:25521356|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28492532|PMID:28689179|PMID:29054760|PMID:29432897|PMID:29577257|PMID:30207196|PMID:30983536|PMID:31653973 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9000528 Coronary Disease ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9000815 Aortic Calcification susceptibility IAGP D RGD:2315841|PMID:19884975 20100113 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat) 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1604306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:15888487|PMID:18252229|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18950464|PMID:19794411|PMID:19874474|PMID:20376629|PMID:20555338|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21148049|PMID:21318593|PMID:21636598|PMID:22571356|PMID:22592842|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23104259|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23602689|PMID:23774101|PMID:23932037|PMID:24224579|PMID:24474498|PMID:24919870|PMID:25001883|PMID:25244877|PMID:25521356|PMID:25769357|PMID:26445138|PMID:26739746|PMID:26777610|PMID:26984978|PMID:27262824|PMID:27488176|PMID:27581200|PMID:27703968|PMID:28033245|PMID:28049362|PMID:28689179|PMID:29432897|PMID:29577257 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9004080 Aortic Rupture ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26445138 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9007096 Stroke ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9008217 Hemorrhage ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20597268|PMID:26445138 1303108 Ankra2 ankyrin repeat family A member 2 gene DOID:630 genetic disease ISO RGD:1347651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303108 Ankra2 ankyrin repeat family A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347651 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303110 Ostn osteocrin gene DOID:5419 schizophrenia ISO RGD:1342782 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303110 Ostn osteocrin gene DOID:630 genetic disease ISO RGD:1342782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303111 Rtca RNA 3'-terminal phosphate cyclase gene DOID:630 genetic disease ISO RGD:1344520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303111 Rtca RNA 3'-terminal phosphate cyclase gene DOID:9269 maple syrup urine disease ISO RGD:1344520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1303113 Syap1 synapse associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353710 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303113 Syap1 synapse associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1353710 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303113 Syap1 synapse associated protein 1 gene DOID:630 genetic disease ISO RGD:1353710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303113 Syap1 synapse associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353710 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303114 Polr1h RNA polymerase I subunit H gene DOID:11372 megacolon ISO RGD:1351679 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303114 Polr1h RNA polymerase I subunit H gene DOID:9000217 Stomach Neoplasms ISO RGD:1351679 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 1303114 Polr1h RNA polymerase I subunit H gene DOID:9002170 Experimental Neoplasms ISO RGD:1351679 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 1303115 Trim39 tripartite motif-containing 39 gene DOID:11372 megacolon ISO RGD:1345253 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303115 Trim39 tripartite motif-containing 39 gene DOID:630 genetic disease ISO RGD:1345253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303116 Plppr1 phospholipid phosphatase related 1 gene DOID:630 genetic disease ISO RGD:1603210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303117 Fam98c family with sequence similarity 98, member C gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604231 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 1303117 Fam98c family with sequence similarity 98, member C gene DOID:630 genetic disease ISO RGD:1604231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303118 Lrrc36 leucine rich repeat containing 36 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1303118 Lrrc36 leucine rich repeat containing 36 gene DOID:630 genetic disease ISO RGD:1605363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303119 Itgb6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:7240710 20170802 OMIM 1303119 Itgb6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H PMID:14970781|PMID:16838342|PMID:24305999|PMID:24319098|PMID:25741868|PMID:28492532|PMID:9189626 1303119 Itgb6 integrin subunit beta 6 gene DOID:10283 prostate cancer ISO RGD:1346382 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303119 Itgb6 integrin subunit beta 6 gene DOID:10907 microcephaly ISO RGD:1346382 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1303119 Itgb6 integrin subunit beta 6 gene DOID:12849 autistic disorder ISO RGD:1346382 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1303119 Itgb6 integrin subunit beta 6 gene DOID:2841 asthma ISS RGD:1552765 D RGD:13592920 20180518 MouseDO OMIM:600807 1303119 Itgb6 integrin subunit beta 6 gene DOID:409 liver disease ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 1303119 Itgb6 integrin subunit beta 6 gene DOID:417 autoimmune disease ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 1303119 Itgb6 integrin subunit beta 6 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346382 D RGD:2302245|PMID:18221819 20081205 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:liver 1303119 Itgb6 integrin subunit beta 6 gene DOID:630 genetic disease ISO RGD:1346382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303119 Itgb6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:2302244|PMID:18538673 20081205 RGD mRNA, protein:increased expression:liver 1303119 Itgb6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 1303119 Itgb6 integrin subunit beta 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1303119 Itgb6 integrin subunit beta 6 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 1303119 Itgb6 integrin subunit beta 6 gene DOID:9446 cholangitis ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 1303119 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:12634787 1303119 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:737734|PMID:12634787 19990101 RGD 1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:1826 epilepsy ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:607 paraplegia ISO RGD:1342908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:630 genetic disease ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1303121 Txndc8 thioredoxin domain containing 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 1303121 Txndc8 thioredoxin domain containing 8 gene DOID:12336 male infertility ISO RGD:1345541 D RGD:1303999|PMID:15181017 19990101 RGD protein:increased expression:sperm (human) 1303121 Txndc8 thioredoxin domain containing 8 gene DOID:630 genetic disease ISO RGD:1345541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0050553 JMP syndrome ISO RGD:1346332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1346332 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:7240710 20170301 OMIM 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 PMID:12345|PMID:16199547|PMID:24827421|PMID:25058219|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:11372 megacolon ISO RGD:1346332 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1346332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12345|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496 1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:1346332 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 1303123 Apold1 apolipoprotein L domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1604585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1303123 Apold1 apolipoprotein L domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1604585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1303123 Apold1 apolipoprotein L domain containing 1 gene DOID:630 genetic disease ISO RGD:1604585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303125 Mucl3 mucin like 3 gene DOID:0050553 JMP syndrome ISO RGD:1346376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303125 Mucl3 mucin like 3 gene DOID:11372 megacolon ISO RGD:1346376 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303125 Mucl3 mucin like 3 gene DOID:630 genetic disease ISO RGD:1346376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303125 Mucl3 mucin like 3 gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1346376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22152429 1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:7240710 20141015 OMIM 1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microphthalmia with limb anomalies PMID:19208380|PMID:21194678|PMID:21194680|PMID:23646827|PMID:25741868|PMID:28085523|PMID:28492532 1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:630 genetic disease ISO RGD:1348217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303127 Kansl2 KAT8 regulatory NSL complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1606280 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1303127 Kansl2 KAT8 regulatory NSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0080600 COVID-19 ISO RGD:1602078 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:5812 MHC class II deficiency ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:630 genetic disease ISO RGD:1602078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303130 Glmp glycosylated lysosomal membrane protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602078 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1342930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:7240710 20140911 OMIM 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:16199547|PMID:17564964|PMID:23777631|PMID:23844677|PMID:25741868|PMID:26392352|PMID:28492532 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603206 D RGD:8554872 20190820 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16728649|PMID:17564964 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1603206 D RGD:7240710 20130221 OMIM 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1603206 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:16199547|PMID:16728649|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:33220101|PMID:9536098 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603206 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:12377 spinal muscular atrophy ISO RGD:1603206 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:17576681|PMID:28492532|PMID:9536098 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603206 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:574 peripheral nervous system disease ISO RGD:1603206 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:630 genetic disease ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:9536098 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:870 neuropathy ISO RGD:1603206 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1603206 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603206 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004930 Spinal Muscular Atrophy, Facioscapulohumeral Type ISO RGD:1603206 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type 1303133 Pgpep1 pyroglutamyl-peptidase I gene DOID:10283 prostate cancer ISO RGD:1348411 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303133 Pgpep1 pyroglutamyl-peptidase I gene DOID:630 genetic disease ISO RGD:1348411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303133 Pgpep1 pyroglutamyl-peptidase I gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1601775 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532|PMID:28789839 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 susceptibility ISO RGD:1601775 D RGD:7240710 20190502 OMIM 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:25807283 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1601775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1601775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1601775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1601775 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9000918 Disease Progression ISO RGD:1601775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9006836 Contracture ISO RGD:1601775 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Contractures 1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9255 frontotemporal dementia ISO RGD:1601775 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26101835|PMID:28097223|PMID:28400126|PMID:28789839|PMID:30924900|PMID:31836585 1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:2349 arteriosclerosis ISO RGD:1615659 D RGD:1642183|PMID:17218600 20070906 RGD 1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345181 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1345181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1615659 D RGD:1642184|PMID:15671032 20070906 RGD 1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642185|PMID:17292734 20070906 RGD mRNA:increased expression:intestine, liver 1303136 Ddx19a DEAD-box helicase 19A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349788 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1303136 Ddx19a DEAD-box helicase 19A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1303136 Ddx19a DEAD-box helicase 19A gene DOID:630 genetic disease ISO RGD:1349788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303137 Vwa7 von Willebrand factor A domain containing 7 gene DOID:0050553 JMP syndrome ISO RGD:1342662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303137 Vwa7 von Willebrand factor A domain containing 7 gene DOID:630 genetic disease ISO RGD:1342662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1606832 D RGD:1581314|PMID:16492908 19990101 RGD protein:decreased expression:prostate gland (human) 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606832 D RGD:1581317|PMID:9743567 19990101 RGD protein:decreased expression:parietal cortex (human) 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1550885 D RGD:10043111|PMID:21898507 20150514 RGD mRNA:increased expression:liver: 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13580 cholestasis ISO RGD:1550885 D RGD:10043111|PMID:21898507 20150514 RGD mRNA:increased expression:liver: 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606832 D RGD:10043111|PMID:21898507 20150514 RGD mRNA,protein:increased expression:liver: 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1612 breast cancer severity ISO RGD:1606832 D RGD:1581315|PMID:14734471 19990101 RGD mRNA:decreased expression:breast (human) 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1697 ichthyosis ISO RGD:1550885 D RGD:10043094|PMID:18832587 20150513 RGD 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606832 D RGD:1581316|PMID:11948120 19990101 RGD protein:decreased expression:ovarian epithelium (human) 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2717 Bloom syndrome ISO RGD:1606832 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5082 liver cirrhosis IEP D RGD:10043112|PMID:15086199 20150519 RGD mRNA:increased expression:spleen: 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1606832 D RGD:1581312|PMID:16273651 19990101 RGD mRNA:decreased expression:stomach (human) 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:630 genetic disease ISO RGD:1606832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606832 D RGD:1581311|PMID:16820046 19990101 RGD mRNA:decreased expression:colon (human) 1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9256 colorectal cancer ISO RGD:1606832 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1303139 Rnf114 ring finger protein 114 gene DOID:12336 male infertility ISO RGD:1349716 D RGD:1303956|PMID:12621547 19990101 RGD mRNA:decreased expression:testes (human) 1303139 Rnf114 ring finger protein 114 gene DOID:630 genetic disease ISO RGD:1349716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303139 Rnf114 ring finger protein 114 gene DOID:8893 psoriasis ISO RGD:1349716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 1303140 Rilpl2 Rab interacting lysosomal protein-like 2 gene DOID:630 genetic disease ISO RGD:1606943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1344472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344472 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344472 D RGD:6483097|PMID:20590401 20120515 RGD mRNA: splice variants 1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:14330 Parkinson's disease ISO RGD:1344472 D RGD:6483095|PMID:19429005 20120515 RGD DNA: snp: intron: rs11155313 1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:2377 multiple sclerosis ISO RGD:1344472 D RGD:6483093|PMID:20546594 20120515 RGD DNA: snp: : rs1015340 1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:630 genetic disease ISO RGD:1344472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303142 Oser1 oxidative stress responsive serine-rich 1 gene DOID:2234 focal epilepsy ISO RGD:1350756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1303142 Oser1 oxidative stress responsive serine-rich 1 gene DOID:630 genetic disease ISO RGD:1350756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303142 Oser1 oxidative stress responsive serine-rich 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1303143 Arhgap8 Rho GTPase activating protein 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606315 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1303143 Arhgap8 Rho GTPase activating protein 8 gene DOID:1059 intellectual disability ISO RGD:1606315 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303143 Arhgap8 Rho GTPase activating protein 8 gene DOID:630 genetic disease ISO RGD:1606315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303144 Ak8 adenylate kinase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1303144 Ak8 adenylate kinase 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 1303144 Ak8 adenylate kinase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1303144 Ak8 adenylate kinase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1303144 Ak8 adenylate kinase 8 gene DOID:10908 hydrocephalus ISS RGD:1332480 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1303144 Ak8 adenylate kinase 8 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350831 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1303144 Ak8 adenylate kinase 8 gene DOID:3652 Leigh disease ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1303144 Ak8 adenylate kinase 8 gene DOID:630 genetic disease ISO RGD:1350831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303145 Abhd12b abhydrolase domain containing 12B gene DOID:630 genetic disease ISO RGD:1349841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303146 Cacybp calcyclin binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1346732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303146 Cacybp calcyclin binding protein gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1346732 D RGD:2326146|PMID:18765951 20100625 RGD mRNA, protein:increased expression:pancreas 1303146 Cacybp calcyclin binding protein gene DOID:3755 antithrombin III deficiency ISO RGD:1346732 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1303146 Cacybp calcyclin binding protein gene DOID:5844 myocardial infarction IEP D RGD:2326117|PMID:16440310 20100624 RGD mRNA:increased expression:heart 1303146 Cacybp calcyclin binding protein gene DOID:630 genetic disease ISO RGD:1346732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303146 Cacybp calcyclin binding protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346732 D RGD:2326146|PMID:18765951 20100625 RGD associated with pancreatic neoplasms 1303146 Cacybp calcyclin binding protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1303146 Cacybp calcyclin binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346732 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:11198 DiGeorge syndrome ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:25516202|PMID:28492532 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:12849 autistic disorder ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:1588 thrombocytopenia ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:2213 hemorrhagic disease ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:5419 schizophrenia ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:630 genetic disease ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:9007661 Dwarfism ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1303148 ST7 suppression of tumorigenicity 7 gene DOID:4450 renal cell carcinoma ISO RGD:1343912 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 1303148 ST7 suppression of tumorigenicity 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343912 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303148 ST7 suppression of tumorigenicity 7 gene DOID:630 genetic disease ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303148 ST7 suppression of tumorigenicity 7 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 1303148 ST7 suppression of tumorigenicity 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1343912 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1303149 Krt85 keratin 85 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1350889 D RGD:7240710 20130807 OMIM 1303149 Krt85 keratin 85 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1350889 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type PMID:16525032|PMID:19865094|PMID:24033266|PMID:25741868|PMID:28492532 1303149 Krt85 keratin 85 gene DOID:630 genetic disease ISO RGD:1350889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303150 Rab21 RAB21, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303150 Rab21 RAB21, member RAS oncogene family gene DOID:9970 obesity ISO RGD:1350890 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 1303151 Adipor1 adiponectin receptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1303151 Adipor1 adiponectin receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344545 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303151 Adipor1 adiponectin receptor 1 gene DOID:1612 breast cancer ISO RGD:1344545 D RGD:8694415|PMID:18451143 20140805 RGD DNA:SNPs: :rs7539542 (human) 1303151 Adipor1 adiponectin receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:1344545 D RGD:8694417|PMID:19723917 20140805 RGD 1303151 Adipor1 adiponectin receptor 1 gene DOID:2018 hyperinsulinism IEP D RGD:1625765|PMID:16326833 20070629 RGD mRNA:decreased expression:skeletal muscle cell 1303151 Adipor1 adiponectin receptor 1 gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1344545 D RGD:8694410|PMID:21397927 20140805 RGD DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452) (human) 1303151 Adipor1 adiponectin receptor 1 gene DOID:4195 hyperglycemia IEP D RGD:1625765|PMID:16326833 20070629 RGD mRNA:decreased expression:skeletal muscle cell 1303151 Adipor1 adiponectin receptor 1 gene DOID:4448 macular degeneration ISO RGD:1344545 D RGD:8694465|PMID:22387454 20140805 RGD DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) 1303151 Adipor1 adiponectin receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1332010 D RGD:1625764|PMID:16415076 20070629 RGD mRNA, protein:decreased expression:heart left ventricle 1303151 Adipor1 adiponectin receptor 1 gene DOID:630 genetic disease ISO RGD:1344545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303151 Adipor1 adiponectin receptor 1 gene DOID:783 end stage renal disease IEP D RGD:8695941|PMID:24028144 20140806 RGD 1303151 Adipor1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1344545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 1303151 Adipor1 adiponectin receptor 1 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:8695947|PMID:23533720 20140806 RGD 1303151 Adipor1 adiponectin receptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1303151 Adipor1 adiponectin receptor 1 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:8695938|PMID:24669271 20140806 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum 1303151 Adipor1 adiponectin receptor 1 gene DOID:9007456 Female Infertility ISO RGD:1344545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 1303151 Adipor1 adiponectin receptor 1 gene DOID:9007692 Insulin Resistance resistance ISO RGD:1344545 D RGD:1625762|PMID:17285539 20070629 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C 1303151 Adipor1 adiponectin receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344545 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303151 Adipor1 adiponectin receptor 1 gene DOID:9970 obesity IEP D RGD:1625763|PMID:16483885 20070629 RGD mRNA:increased expression:liver 1303151 Adipor1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1344545 D RGD:1625761|PMID:17391161 20070629 RGD mRNA:decreased expression:lymphocyte 1303152 Enc1 ectodermal-neural cortex 1 gene DOID:630 genetic disease ISO RGD:1352868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303152 Enc1 ectodermal-neural cortex 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303152 Enc1 ectodermal-neural cortex 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352868 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303153 Or12d17 olfactory receptor family 12 subfamily D member 17 gene DOID:11372 megacolon ISO RGD:1352207 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303153 Or12d17 olfactory receptor family 12 subfamily D member 17 gene DOID:630 genetic disease ISO RGD:1352207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303154 rnf141 ring finger protein 141 gene DOID:630 genetic disease ISO RGD:1350770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346637 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:630 genetic disease ISO RGD:1346637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346637 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1550957 D RGD:7775025|PMID:23200873 20131230 RGD 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0050777 Joubert syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:1826 epilepsy ISO RGD:1353727 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:3652 Leigh disease ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:630 genetic disease ISO RGD:1353727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1303157 Krt24 keratin 24 gene DOID:630 genetic disease ISO RGD:1349415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303158 Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 gene DOID:0050553 JMP syndrome ISO RGD:1351353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303158 Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1303158 Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1351353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303159 Maip1 matrix AAA peptidase interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603199 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:10283 prostate cancer ISO RGD:1350363 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:1059 intellectual disability ISO RGD:1350363 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1350363 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:630 genetic disease ISO RGD:1350363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350363 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1605541 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0080600 COVID-19 ISO RGD:1605541 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:10283 prostate cancer ISO RGD:1605541 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1605541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 1303162 Ltb lymphotoxin beta gene DOID:0050553 JMP syndrome ISO RGD:1353964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303162 Ltb lymphotoxin beta gene DOID:11372 megacolon ISO RGD:1353964 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303162 Ltb lymphotoxin beta gene DOID:2773 contact dermatitis ISO RGD:1551006 D RGD:8548819|PMID:11390430 20140320 RGD 1303162 Ltb lymphotoxin beta gene DOID:630 genetic disease ISO RGD:1353964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303162 Ltb lymphotoxin beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353964 D RGD:11554173 20170328 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303162 Ltb lymphotoxin beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:1551006 D RGD:8548820|PMID:17911622 20140320 RGD 1303162 Ltb lymphotoxin beta gene DOID:9146 visceral leishmaniasis ISO RGD:1551006 D RGD:8548822|PMID:12115620 20140320 RGD 1303163 Ppp1r11 protein phosphatase 1, regulatory (inhibitor) subunit 11 gene DOID:11372 megacolon ISO RGD:1350582 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303163 Ppp1r11 protein phosphatase 1, regulatory (inhibitor) subunit 11 gene DOID:630 genetic disease ISO RGD:1350582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0050553 JMP syndrome ISO RGD:1351609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:7240710 20220223 OMIM 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive PMID:25741868|PMID:34587489|PMID:34866177 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:11372 megacolon ISO RGD:1351609 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351609 D RGD:8554872 20211019 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia PMID:25741868 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:607 paraplegia ISO RGD:1351609 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:34587489 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:630 genetic disease ISO RGD:1351609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351609 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:0050553 JMP syndrome ISO RGD:1349303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:7240710 20190315 OMIM 1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 72 PMID:25741868|PMID:28013291|PMID:28492532 1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:630 genetic disease ISO RGD:1349303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1322028 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1322028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1322028 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1322028 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1322028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 1303170 Jph4 junctophilin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1315305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1303170 Jph4 junctophilin 4 gene DOID:0080600 COVID-19 ISO RGD:1315305 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303170 Jph4 junctophilin 4 gene DOID:630 genetic disease ISO RGD:1315305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303170 Jph4 junctophilin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1315305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1303170 Jph4 junctophilin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1606817 D RGD:11554173 20180809 CTD CTD Direct Evidence: marker/mechanism 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:7240710 20170315 OMIM 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 PMID:16782820|PMID:20400119|PMID:25741868 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0080600 COVID-19 ISO RGD:1606817 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:1059 intellectual disability ISO RGD:1606817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1606817 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:decreased expression:lung (human) 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:630 genetic disease ISO RGD:1606817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1343234 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 1303172 Fancd2 FA complementation group D2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 1303172 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:7240710 20130425 OMIM 1303172 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25168418|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:27041517|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30256826|PMID:30306255|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:32867815|PMID:33558524|PMID:9536098 1303172 Fancd2 FA complementation group D2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:24728327|PMID:25168418|PMID:25741868|PMID:25927356|PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:10629 microphthalmia ISO RGD:1615723 D RGD:11344906|PMID:12893777 20160708 RGD 1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:11344904|PMID:19287902 20160707 RGD 1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14667412 1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:1601137|PMID:11239453 20070409 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple 1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098 1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 1303172 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:10769361|PMID:23897704 20160210 RGD 1303172 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:11344909|PMID:16679306 20160708 RGD DNA:SNP, haplotype: :rs2272125 (human) 1303172 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532|PMID:33558524 1303172 Fancd2 FA complementation group D2 gene DOID:2394 ovarian cancer ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1615723 D RGD:11344907|PMID:20935219 20160708 RGD 1303172 Fancd2 FA complementation group D2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:630 genetic disease ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343234 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1303172 Fancd2 FA complementation group D2 gene DOID:687 hepatoblastoma ISO RGD:1343234 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255 1303172 Fancd2 FA complementation group D2 gene DOID:8923 skin melanoma ISO RGD:1343234 D RGD:11046262|PMID:21697891 20160404 RGD mRNA,protein:increased expression:skin,nucleus: 1303172 Fancd2 FA complementation group D2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1343234 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1303172 Fancd2 FA complementation group D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343234 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303172 Fancd2 FA complementation group D2 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1615723 D RGD:11344906|PMID:12893777 20160708 RGD 1303172 Fancd2 FA complementation group D2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 1303172 Fancd2 FA complementation group D2 gene DOID:9008539 Perinatal Death ISO RGD:1615723 D RGD:11344906|PMID:12893777 20160708 RGD 1303172 Fancd2 FA complementation group D2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1343234 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 1303173 Ube4a ubiquitination factor E4A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303173 Ube4a ubiquitination factor E4A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1303173 Ube4a ubiquitination factor E4A gene DOID:0080690 RASopathy ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1303173 Ube4a ubiquitination factor E4A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351066 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1303173 Ube4a ubiquitination factor E4A gene DOID:0110651 long QT syndrome 10 ISO RGD:1351066 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1303173 Ube4a ubiquitination factor E4A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303173 Ube4a ubiquitination factor E4A gene DOID:0111971 immunodeficiency 18 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303173 Ube4a ubiquitination factor E4A gene DOID:0111972 immunodeficiency 19 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303173 Ube4a ubiquitination factor E4A gene DOID:0111973 immunodeficiency 17 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303173 Ube4a ubiquitination factor E4A gene DOID:1059 intellectual disability ISO RGD:1351066 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303173 Ube4a ubiquitination factor E4A gene DOID:1826 epilepsy ISO RGD:1351066 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:33420346 1303173 Ube4a ubiquitination factor E4A gene DOID:630 genetic disease ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303173 Ube4a ubiquitination factor E4A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351066 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303173 Ube4a ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:7240710 20220216 OMIM 1303173 Ube4a ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay PMID:27431290|PMID:33420346 1303173 Ube4a ubiquitination factor E4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303173 Ube4a ubiquitination factor E4A gene DOID:9007661 Dwarfism ISO RGD:1351066 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1303174 Ppid peptidylprolyl isomerase D gene DOID:11372 megacolon ISO RGD:1342741 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303174 Ppid peptidylprolyl isomerase D gene DOID:2316 brain ischemia ISO RGD:1553037 D RGD:1580699|PMID:16103352 19990101 RGD 1303174 Ppid peptidylprolyl isomerase D gene DOID:630 genetic disease ISO RGD:1342741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303175 Nmt2 N-myristoyltransferase 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1349505 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1303175 Nmt2 N-myristoyltransferase 2 gene DOID:5119 ovarian cyst ISO RGD:1349505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1303175 Nmt2 N-myristoyltransferase 2 gene DOID:630 genetic disease ISO RGD:1349505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303176 Tspan5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303176 Tspan5 tetraspanin 5 gene DOID:630 genetic disease ISO RGD:1602132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1351494 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:4621 holoprosencephaly ISO RGD:1351494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:630 genetic disease ISO RGD:1351494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303178 Nanog Nanog homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1303178 Nanog Nanog homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347686 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1303178 Nanog Nanog homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347686 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1303178 Nanog Nanog homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1303178 Nanog Nanog homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:1347686 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1303178 Nanog Nanog homeobox gene DOID:14330 Parkinson's disease treatment ISO RGD:1553059 D RGD:9681444|PMID:24954161 20141126 RGD mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell 1303178 Nanog Nanog homeobox gene DOID:219 colon cancer treatment IDA D RGD:7240527|PMID:22641368 20141126 RGD 1303178 Nanog Nanog homeobox gene DOID:3307 teratoma severity ISO RGD:1553059 D RGD:9681441|PMID:20817694 20141126 RGD mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell 1303178 Nanog Nanog homeobox gene DOID:630 genetic disease ISO RGD:1347686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303178 Nanog Nanog homeobox gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 1303178 Nanog Nanog homeobox gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347686 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 1303178 Nanog Nanog homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347686 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1303179 Bpi bactericidal/permeability-increasing protein gene DOID:2234 focal epilepsy ISO RGD:1352137 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1303179 Bpi bactericidal/permeability-increasing protein gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352137 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 1303179 Bpi bactericidal/permeability-increasing protein gene DOID:630 genetic disease ISO RGD:1352137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303179 Bpi bactericidal/permeability-increasing protein gene DOID:8778 Crohn's disease ISO RGD:1352137 D RGD:1580079|PMID:15758620 19990101 RGD 1303180 Sfta2 surfactant associated 2 gene DOID:0050553 JMP syndrome ISO RGD:1347220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303180 Sfta2 surfactant associated 2 gene DOID:11372 megacolon ISO RGD:1347220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303180 Sfta2 surfactant associated 2 gene DOID:630 genetic disease ISO RGD:1347220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303181 Krt17 keratin 17 gene DOID:0050449 pachyonychia congenita ISO RGD:1353171 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1303181 Krt17 keratin 17 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1353171 D RGD:8554872 20190514 ClinVar ClinVar Annotator: match by term: Anonychia PMID:25741868 1303181 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:7240710 20130221 OMIM 1303181 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 1303181 Krt17 keratin 17 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1353171 D RGD:1600184|PMID:7539673 20070301 RGD protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 1303181 Krt17 keratin 17 gene DOID:2513 basal cell carcinoma ISO RGD:1353171 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20871598 1303181 Krt17 keratin 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353171 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1303181 Krt17 keratin 17 gene DOID:630 genetic disease ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303181 Krt17 keratin 17 gene DOID:9001341 Chloracne ISO RGD:1353171 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 1303181 Krt17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:7240710 20190327 OMIM 1303181 Krt17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 2 PMID:10571744|PMID:11348474|PMID:11874497|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:3954955|PMID:7529318|PMID:7539673|PMID:9008238|PMID:9767294 1303181 Krt17 keratin 17 gene DOID:9004464 Skin Neoplasms ISO RGD:1353171 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 1303181 Krt17 keratin 17 gene DOID:9008109 Sebocystomatosis ISO RGD:1353171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sebocystomatosis PMID:22336949|PMID:2248894|PMID:25741868|PMID:28492532|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 1303182 Dctn2 dynactin subunit 2 gene DOID:0050890 synucleinopathy IEP D RGD:11049591|PMID:19295143 20170726 RGD 1303182 Dctn2 dynactin subunit 2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 1303182 Dctn2 dynactin subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352908 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:26517670 1303182 Dctn2 dynactin subunit 2 gene DOID:607 paraplegia ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1303182 Dctn2 dynactin subunit 2 gene DOID:630 genetic disease ISO RGD:1352908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303182 Dctn2 dynactin subunit 2 gene DOID:6846 familial melanoma ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1303182 Dctn2 dynactin subunit 2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:10485 esophageal atresia ISO RGD:1346963 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:1059 intellectual disability ISO RGD:1346963 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:1909 melanoma ISO RGD:1346963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:3070 high grade glioma ISO RGD:1346963 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:630 genetic disease ISO RGD:1346963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:8552 chronic myeloid leukemia ISS RGD:1553084 D RGD:13592920 20180518 MouseDO OMIM:608232 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346963 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1303185 Tfap2c transcription factor AP-2 gamma gene DOID:10907 microcephaly ISO RGD:1346626 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1303185 Tfap2c transcription factor AP-2 gamma gene DOID:630 genetic disease ISO RGD:1346626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303185 Tfap2c transcription factor AP-2 gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:1346626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1303186 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:0050553 JMP syndrome ISO RGD:1347481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303186 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:11372 megacolon ISO RGD:1347481 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303186 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:630 genetic disease ISO RGD:1347481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353173 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:7240710 20190315 OMIM 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:12783 migraine without aura ISO RGD:1353173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097|PMID:26098115|PMID:34961328 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5419 schizophrenia ISO RGD:1353173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:26098115 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:630 genetic disease ISO RGD:1353173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9001829 Cerebrovascular Trauma ISO RGD:1353173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25420145 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353173 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353173 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:630 genetic disease ISO RGD:1342974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:9870 galactosemia ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1303190 Nox3 NADPH oxidase 3 gene DOID:630 genetic disease ISO RGD:1351952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303190 Nox3 NADPH oxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351952 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1303191 Snupn snurportin 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353124 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 1303191 Snupn snurportin 1 gene DOID:1826 epilepsy ISO RGD:1353124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1303191 Snupn snurportin 1 gene DOID:2717 Bloom syndrome ISO RGD:1353124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1303191 Snupn snurportin 1 gene DOID:5419 schizophrenia ISO RGD:1353124 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303191 Snupn snurportin 1 gene DOID:630 genetic disease ISO RGD:1353124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303191 Snupn snurportin 1 gene DOID:9256 colorectal cancer ISO RGD:1353124 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:1641802|PMID:15117887 20070822 RGD associated with Diabetes Mellitus, Experimental 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:1641794|PMID:17272402 20070822 RGD 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:1641795|PMID:15905889 20070822 RGD DNA:polymorphisms 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:1641799|PMID:17022964 20070822 RGD 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:1641794|PMID:17272402 20070822 RGD 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:1641797|PMID:17137568 20070822 RGD 1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:1641794|PMID:17272402 20070822 RGD 1303193 Sucnr1 succinate receptor 1 gene DOID:630 genetic disease ISO RGD:1353653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303194 Hyal4 hyaluronidase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347409 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303194 Hyal4 hyaluronidase 4 gene DOID:630 genetic disease ISO RGD:1347409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303195 Ddx56 DEAD-box helicase 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349129 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303195 Ddx56 DEAD-box helicase 56 gene DOID:630 genetic disease ISO RGD:1349129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1354318 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1354318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1354318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:4621 holoprosencephaly ISO RGD:1353728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:630 genetic disease ISO RGD:1353728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:34703884|PMID:9536098 1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:7240710 20190315 OMIM 1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884|PMID:9536098 1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:7240710 20170111 OMIM 1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:11739194|PMID:12424189|PMID:12468428|PMID:15161861|PMID:17576681|PMID:21761136|PMID:22935719|PMID:25457163|PMID:25741868|PMID:28492532|PMID:29770612|PMID:29914532|PMID:9536098 1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:630 genetic disease ISO RGD:1607088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:83 cataract ISO RGD:1607088 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Congenital cataract 1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:83 cataract ISO RGD:1607088 D RGD:8693611|PMID:15161861 20060127 RGD DNA:nonsense mutation:exon: 1303200 Ccl6 C-C motif chemokine ligand 6 gene DOID:630 genetic disease ISO RGD:6904431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303201 Sgce sarcoglycan, epsilon gene DOID:0090033 myoclonic dystonia ISO RGD:1352882 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism 1303201 Sgce sarcoglycan, epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:7240710 20220629 OMIM 1303201 Sgce sarcoglycan, epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19066193|PMID:19117362|PMID:19133653|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25401298|PMID:25406829|PMID:25741868|PMID:26046366|PMID:26467025|PMID:27441098|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:31186545|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 1303201 Sgce sarcoglycan, epsilon gene DOID:10534 stomach cancer severity ISO RGD:1352882 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 1303201 Sgce sarcoglycan, epsilon gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352882 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:28492532 1303201 Sgce sarcoglycan, epsilon gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352882 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303201 Sgce sarcoglycan, epsilon gene DOID:630 genetic disease ISO RGD:1352882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 1303204 Arfip2 ADP-ribosylation factor interacting protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349532 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1303204 Arfip2 ADP-ribosylation factor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1349532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303205 Phf1 PHD finger protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1344150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303205 Phf1 PHD finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344150 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1303205 Phf1 PHD finger protein 1 gene DOID:630 genetic disease ISO RGD:1344150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303206 Usp54 ubiquitin specific peptidase 54 gene DOID:630 genetic disease ISO RGD:1343407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303207 mt-Tl1 mitochondrially encoded tRNA leucine 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353707 D RGD:1580746|PMID:7906985 19990101 RGD 1303209 Pcdh7 protocadherin 7 gene DOID:630 genetic disease ISO RGD:1346973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:3082 interstitial lung disease ISO RGD:1348852 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:29979980 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:5082 liver cirrhosis ISO RGD:1348852 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Liver cirrhosis PMID:29979980 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:630 genetic disease ISO RGD:1348852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9001665 Aneurysm ISO RGD:1348852 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:29979980 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9001942 Rajab Interstitial Lung Disease with Brain Calcifications ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications | ClinVar Annotator: match by term: Rajab syndrome PMID:19161147|PMID:25741868|PMID:29573043|PMID:29979980|PMID:30014610 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348852 D RGD:8554872 20181113 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:29573043 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348852 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:7240710 20190315 OMIM 1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 PMID:25741868|PMID:28492532|PMID:29573043|PMID:29979980 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4621 holoprosencephaly ISS RGD:1619812 D RGD:13592920 20191010 MouseDO 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9002189 High Myopia ISO RGD:1605037 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605037 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605037 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25804403|PMID:26350515 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:7240710 20140911 OMIM 1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:17711852|PMID:24482476|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26050939|PMID:26350515|PMID:27457812|PMID:27848944|PMID:28492532|PMID:34906502|PMID:9536098 1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33531666|PMID:35684946 1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:7240710 20210414 OMIM 1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:32869858|PMID:33531666|PMID:35684946 1303215 Krt86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:7240710 20140806 OMIM 1303215 Krt86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:10469314|PMID:10594761|PMID:10878478|PMID:15050877|PMID:15744029|PMID:19400537|PMID:25326635|PMID:25741868|PMID:28492532|PMID:7556444|PMID:9241275|PMID:9402962|PMID:9457912|PMID:9665406|PMID:9804356 1303215 Krt86 keratin 86 gene DOID:421 hair disease susceptibility ISO RGD:1348087 D RGD:1600198|PMID:9241275 20070302 RGD protein:mutations: ; E410K, E410D; monilethrix, OMIM:158000 1303215 Krt86 keratin 86 gene DOID:630 genetic disease ISO RGD:1348087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303216 Krt72 keratin 72 gene DOID:630 genetic disease ISO RGD:1605869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303218 Emcn endomucin gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1602001 D RGD:151665104|PMID:32626543 20220310 RGD 1303218 Emcn endomucin gene DOID:630 genetic disease ISO RGD:1602001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1604035 D RGD:13463463|PMID:26740948 20171215 RGD DNA:SNPs: : 1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604035 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:1059 intellectual disability ISO RGD:1604035 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:630 genetic disease ISO RGD:1604035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303221 Ppic peptidylprolyl isomerase C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303221 Ppic peptidylprolyl isomerase C gene DOID:630 genetic disease ISO RGD:1344607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303221 Ppic peptidylprolyl isomerase C gene DOID:9000217 Stomach Neoplasms ISO RGD:1344607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1303221 Ppic peptidylprolyl isomerase C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344607 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303221 Ppic peptidylprolyl isomerase C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303221 Ppic peptidylprolyl isomerase C gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1344607 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 1303222 Aicda activation-induced cytidine deaminase gene DOID:0050211 swine influenza disease_progression ISO RGD:1347771 D RGD:32716383|PMID:23028320 20200626 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:0050211 swine influenza treatment ISO RGD:1347771 D RGD:32716408|PMID:22281510 20200629 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1303222 Aicda activation-induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:7240710 20180829 OMIM 1303222 Aicda activation-induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:11007475|PMID:11112359|PMID:12715918|PMID:12910268|PMID:14564357|PMID:14769937|PMID:14962793|PMID:15358621|PMID:15893695|PMID:16199547|PMID:16964591|PMID:17560278|PMID:17576681|PMID:18838546|PMID:20652909|PMID:21192628|PMID:22715099|PMID:23803409|PMID:24033266|PMID:24349193|PMID:24591601|PMID:25025377|PMID:25064858|PMID:25741868|PMID:26551569|PMID:27142677|PMID:27577878|PMID:28492532|PMID:32423680|PMID:9536098 1303222 Aicda activation-induced cytidine deaminase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1303222 Aicda activation-induced cytidine deaminase gene DOID:0080544 hyper IgM syndrome ISO RGD:1347771 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 1303222 Aicda activation-induced cytidine deaminase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347771 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1303222 Aicda activation-induced cytidine deaminase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1303222 Aicda activation-induced cytidine deaminase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1551301 D RGD:11039456|PMID:20357822 20160303 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:0111546 Currarino syndrome ISO RGD:1347771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:25741868 1303222 Aicda activation-induced cytidine deaminase gene DOID:0111621 Temtamy syndrome ISO RGD:1347771 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1303222 Aicda activation-induced cytidine deaminase gene DOID:1037 lymphoid leukemia ISO RGD:1347771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23589568 1303222 Aicda activation-induced cytidine deaminase gene DOID:12365 malaria ISO RGD:1551301 D RGD:30310233|PMID:27980783 20200624 RGD protein:increased expression: B cell 1303222 Aicda activation-induced cytidine deaminase gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1551301 D RGD:127285642|PMID:27721128 20210624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:2043 hepatitis B treatment ISO RGD:1551301 D RGD:30310232|PMID:28063995 20200624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:11039457|PMID:17553565 20160303 RGD DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:11039485|PMID:15372234 20160304 RGD DNA:splice-site mutation:intron:IVS2+1G>T (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome onset ISO RGD:1347771 D RGD:11039483|PMID:11112359 20160304 RGD DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome susceptibility ISO RGD:1347771 D RGD:1598906|PMID:11007475 20061220 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:3721 plasmacytoma treatment ISO RGD:1551301 D RGD:11039454|PMID:20404277 20160303 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:4029 gastritis ISO RGD:1551301 D RGD:11039453|PMID:18716662 20160303 RGD associated with Autoimmune Diseases 1303222 Aicda activation-induced cytidine deaminase gene DOID:417 autoimmune disease ISO RGD:1347771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21305519 1303222 Aicda activation-induced cytidine deaminase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347771 D RGD:127285639|PMID:30219203 20210624 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:630 genetic disease ISO RGD:1347771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303222 Aicda activation-induced cytidine deaminase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome PMID:24033266|PMID:25741868|PMID:28492532 1303222 Aicda activation-induced cytidine deaminase gene DOID:684 hepatocellular carcinoma ISO RGD:1551301 D RGD:127285629|PMID:18997814 20210624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:707 B-cell lymphoma ISO RGD:1551301 D RGD:11039449|PMID:17251349 20160303 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347771 D RGD:127285638|PMID:21538122 20210624 RGD associated with stomach cancer;protein:increased expression:stomach (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:9000242 Lymphoma, AIDS-Related disease_progression ISO RGD:1347771 D RGD:32716407|PMID:18090274 20200629 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9000386 Polyomavirus Infections ISO RGD:1347771 D RGD:30310234|PMID:28959124 20200624 RGD associated with Merkel cell carcinoma;protein:decreased expression:: 1303222 Aicda activation-induced cytidine deaminase gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1347771 D RGD:32716377|PMID:25099163 20200626 RGD associated with malaria;mRNA:increased expression:B cell 1303222 Aicda activation-induced cytidine deaminase gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1347771 D RGD:32716387|PMID:21697063 20200706 RGD mRNA:increased expression:T cell, natural killer cell 1303222 Aicda activation-induced cytidine deaminase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551301 D RGD:11098923|PMID:26456931 20200626 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1347771 D RGD:11039455|PMID:21133730 20160303 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9002473 Blast Crisis ISO RGD:1347771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 1303222 Aicda activation-induced cytidine deaminase gene DOID:9003369 Strongylida Infections ISO RGD:1551301 D RGD:32716404|PMID:23630966 20200629 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:30296664|PMID:26219420 20200615 RGD mRNA:increased expression:B cell 1303222 Aicda activation-induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:32716380|PMID:20189883 20200626 RGD mRNA, protein:increased expression:B cell, CD19-positive (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1347771 D RGD:32716369|PMID:26946048 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1347771 D RGD:30296664|PMID:26219420 20200615 RGD associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:1551301 D RGD:127285640|PMID:29743315 20210624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9006644 Retroviridae Infections exacerbates ISO RGD:1551301 D RGD:127285628|PMID:16782033 20210624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1551301 D RGD:127285643|PMID:25378499 20210624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9007339 Alphavirus Infections severity ISO RGD:1551301 D RGD:127285644|PMID:29321331 20210624 RGD 1303222 Aicda activation-induced cytidine deaminase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347771 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1303222 Aicda activation-induced cytidine deaminase gene DOID:9008114 Helicobacter Infections ISO RGD:1347771 D RGD:127285627|PMID:23591766 20210624 RGD protein:increased expression:mucosa of stomach (human) 1303222 Aicda activation-induced cytidine deaminase gene DOID:9146 visceral leishmaniasis ISO RGD:1551301 D RGD:32716386|PMID:31001826 20200626 RGD mRNA:altered expression:Bcell,CD4Tcell 1303222 Aicda activation-induced cytidine deaminase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1347771 D RGD:11039451|PMID:19759560 20160303 RGD 1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347976 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:12849 autistic disorder ISO RGD:1347976 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:630 genetic disease ISO RGD:1347976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:1826 epilepsy ISO RGD:1349384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349384 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:630 genetic disease ISO RGD:1349384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303227 Fkbpl FKBP prolyl isomerase like gene DOID:0050553 JMP syndrome ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303227 Fkbpl FKBP prolyl isomerase like gene DOID:630 genetic disease ISO RGD:1353952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303227 Fkbpl FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20103631 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:7240710 20170503 OMIM 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 PMID:15235027|PMID:204700|PMID:21597265|PMID:23355523|PMID:25741868|PMID:28611678 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:2314854|PMID:17545602 20091130 RGD protein:increased expression:prostate gland 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:2314857|PMID:12370833 20091130 RGD 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:12336 male infertility ISO RGD:1353266 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1353266 D RGD:2314853|PMID:18687310 20091130 RGD mRNA, protein:increased expression:breast 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:1612 breast cancer severity ISO RGD:1353266 D RGD:2314852|PMID:19190825 20091130 RGD 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1353266 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:2394 ovarian cancer severity ISO RGD:1353266 D RGD:2314856|PMID:15262123 20091130 RGD 1303228 Klk4 kallikrein-related peptidase 4 gene DOID:630 genetic disease ISO RGD:1353266 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303229 Wfdc12 WAP four-disulfide core domain 12 gene DOID:2234 focal epilepsy ISO RGD:1349049 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1303229 Wfdc12 WAP four-disulfide core domain 12 gene DOID:630 genetic disease ISO RGD:1349049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303229 Wfdc12 WAP four-disulfide core domain 12 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1349049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1303231 Rasl11a RAS-like family 11 member A gene DOID:289 endometriosis ISO RGD:1343885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1303231 Rasl11a RAS-like family 11 member A gene DOID:630 genetic disease ISO RGD:1343885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303231 Rasl11a RAS-like family 11 member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343885 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 1303232 Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 gene DOID:630 genetic disease ISO RGD:1353326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303233 Fgfr1op2 FGFR1 oncogene partner 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1348205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 1303233 Fgfr1op2 FGFR1 oncogene partner 2 gene DOID:630 genetic disease ISO RGD:1348205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303234 Clca4 chloride channel accessory 4 gene DOID:630 genetic disease ISO RGD:1351138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303235 Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1352920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303235 Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352920 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1303236 Esrrg estrogen-related receptor gamma gene DOID:0050439 Usher syndrome ISO RGD:1349366 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1303236 Esrrg estrogen-related receptor gamma gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1349366 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1303236 Esrrg estrogen-related receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1349366 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303236 Esrrg estrogen-related receptor gamma gene DOID:5426 primary ovarian insufficiency ISO RGD:1349366 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1303236 Esrrg estrogen-related receptor gamma gene DOID:630 genetic disease ISO RGD:1349366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303236 Esrrg estrogen-related receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349366 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35220427 1303236 Esrrg estrogen-related receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349366 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:7240710 20130221 OMIM 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:15136565|PMID:20022472|PMID:20520629|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 neutral lipid storage disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:15136565|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1342875 D RGD:1598668|PMID:11590543 20061211 RGD 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1342875 D RGD:153002829|PMID:30842415 20220720 RGD human cells in mouse model 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1342875 D RGD:153002829|PMID:30842415 20220720 RGD mRNA:decreased expression:colon (human) 1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303238 Atp6v0e2 ATPase, H+ transporting V0 subunit e2 gene DOID:630 genetic disease ISO RGD:1606137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:12849 autistic disorder ISO RGD:1343645 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:630 genetic disease ISO RGD:1343645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:8456 choline deficiency disease IEP D RGD:9588267|PMID:17724018 20141023 RGD mRNA:increased expression:liver: 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343645 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:9263 homocystinuria ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:0080600 COVID-19 ISO RGD:1344647 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:1344647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194279 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:1909 melanoma ISO RGD:1344647 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:2717 Bloom syndrome ISO RGD:1344647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:28867225|PMID:30972880 20200604 RGD DNA:mutation:cds: p.Ala40Glu (human) 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:28867226|PMID:25194279 20200604 RGD DNA:mutation:cds: p.Ser24Phe(human) 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:630 genetic disease ISO RGD:1344647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:8866 actinic keratosis severity ISO RGD:1344647 D RGD:28867225|PMID:30972880 20200604 RGD DNA:mutation:cds: p.Ala40Glu (human) 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:8923 skin melanoma ISO RGD:1344647 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:7240710 20210505 OMIM 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:19863561|PMID:29180244 1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9256 colorectal cancer ISO RGD:1344647 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1303241 Bace2 beta-secretase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350115 D RGD:13782172|PMID:22074738 20180827 RGD mRNA,protein:increased expression:gyrus: 1303241 Bace2 beta-secretase 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1350115 D RGD:13782180|PMID:16023140 20180827 RGD DNA:SNP,haplotype:exon: 1303241 Bace2 beta-secretase 2 gene DOID:12849 autistic disorder ISO RGD:1350115 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303241 Bace2 beta-secretase 2 gene DOID:630 genetic disease ISO RGD:1350115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303241 Bace2 beta-secretase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350115 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303241 Bace2 beta-secretase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1350115 D RGD:13782172|PMID:22074738 20180827 RGD mRNA,protein, activity:increased expression, increased activity:gyrus: 1303241 Bace2 beta-secretase 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1551409 D RGD:13782177|PMID:28337562 20180827 RGD 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:1606032 D RGD:2314849|PMID:12788170 20091130 RGD mRNA:decreased expression:breast 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:10283 prostate cancer susceptibility ISO RGD:1606032 D RGD:2314851|PMID:11920956 20091130 RGD DNA:SNP:exon:p.A50S (human) 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606032 D RGD:2314846|PMID:18766180 20091130 RGD 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:363 uterine cancer ISO RGD:1606032 D RGD:2314848|PMID:16647913 20091130 RGD mRNA, protein:increased expression:endometrium, serum 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:630 genetic disease ISO RGD:1606032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17182177 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20686372 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9004207 Testicular Neoplasms ISO RGD:1606032 D RGD:2314851|PMID:11920956 20091130 RGD mRNA, protein:decreased expression:testis 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16800735 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:2314845|PMID:19150938 20091130 RGD DNA:hypermethylation:exon (human) 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:2314847|PMID:17585892 20091130 RGD 1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1606032 D RGD:2314850|PMID:12087468 20091130 RGD 1303243 Sptb spectrin, beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:7240710 20171011 OMIM 1303243 Sptb spectrin, beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 2 PMID:11703334|PMID:1391962|PMID:1498324|PMID:17576681|PMID:19538529|PMID:25525159|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28102861|PMID:28492532|PMID:29572776|PMID:30198572|PMID:31122244|PMID:31126250|PMID:31602632|PMID:31807509|PMID:32436265|PMID:32641076|PMID:7883966|PMID:8667615|PMID:8844207|PMID:9536098|PMID:9714702 1303243 Sptb spectrin, beta, erythrocytic gene DOID:11244 neonatal anemia ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9005995 1303243 Sptb spectrin, beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:11059526|PMID:19538529 20160415 RGD mRNA:decreased expression:erythrocyte: 1303243 Sptb spectrin, beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8102379|PMID:19538529 1303243 Sptb spectrin, beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:19538529|PMID:25741868|PMID:28492532 1303243 Sptb spectrin, beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1975598 1303243 Sptb spectrin, beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:19538529|PMID:25741868|PMID:28492532 1303243 Sptb spectrin, beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9005995 1303243 Sptb spectrin, beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 1303243 Sptb spectrin, beta, erythrocytic gene DOID:589 congenital hemolytic anemia ISO RGD:1349727 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 1303243 Sptb spectrin, beta, erythrocytic gene DOID:630 genetic disease ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303243 Sptb spectrin, beta, erythrocytic gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1349727 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:25741868 1303243 Sptb spectrin, beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:7240710 20190315 OMIM 1303243 Sptb spectrin, beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 PMID:25741868|PMID:28492532|PMID:30198572|PMID:7883966|PMID:8667615|PMID:8844207 1303244 Kprp keratinocyte proline-rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1303244 Kprp keratinocyte proline-rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1303244 Kprp keratinocyte proline-rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1303244 Kprp keratinocyte proline-rich protein gene DOID:10283 prostate cancer ISO RGD:1353027 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303244 Kprp keratinocyte proline-rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:1353027 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303244 Kprp keratinocyte proline-rich protein gene DOID:5812 MHC class II deficiency ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1303244 Kprp keratinocyte proline-rich protein gene DOID:630 genetic disease ISO RGD:1353027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303244 Kprp keratinocyte proline-rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353027 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303245 Rtn2 reticulon 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1351891 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 1303245 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:7240710 20130221 OMIM 1303245 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 PMID:10677333|PMID:12427890|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 1303245 Rtn2 reticulon 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 1303245 Rtn2 reticulon 2 gene DOID:607 paraplegia ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28166811|PMID:28492532|PMID:9536098 1303245 Rtn2 reticulon 2 gene DOID:630 genetic disease ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303245 Rtn2 reticulon 2 gene DOID:9005668 Dental Medial Diastema ISO RGD:1351891 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastema, dental medial PMID:25741868|PMID:26467025|PMID:28492532 1303246 Dek DEK proto-oncogene gene DOID:630 genetic disease ISO RGD:1349075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303246 Dek DEK proto-oncogene gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1303246 Dek DEK proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21291860|PMID:27811057 1303246 Dek DEK proto-oncogene gene DOID:9006205 Animal Disease Models ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1303246 Dek DEK proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1303247 Slc25a47 solute carrier family 25, member 47 gene DOID:10283 prostate cancer ISO RGD:1345966 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303247 Slc25a47 solute carrier family 25, member 47 gene DOID:630 genetic disease ISO RGD:1345966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303247 Slc25a47 solute carrier family 25, member 47 gene DOID:684 hepatocellular carcinoma ISO RGD:1345966 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1303248 Jam3 junctional adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346212 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1303248 Jam3 junctional adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1346212 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1303248 Jam3 junctional adhesion molecule 3 gene DOID:11446 sciatic neuropathy IEP D RGD:7488944|PMID:22950044 20131206 RGD 1303248 Jam3 junctional adhesion molecule 3 gene DOID:3042 allergic contact dermatitis ISO RGD:1551450 D RGD:7488919|PMID:16297198 20131205 RGD 1303248 Jam3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:7488920|PMID:23001478 20131205 RGD protein:increased expression:skin 1303248 Jam3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:7488937|PMID:19439502 20131206 RGD protein:decreased expression:skin, endothelial cell 1303248 Jam3 junctional adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1346212 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303248 Jam3 junctional adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1346212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1551450 D RGD:7488935|PMID:22323465 20131206 RGD 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:7240710 20130221 OMIM 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts PMID:21109224|PMID:23255084|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32860008 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1551450 D RGD:7488936|PMID:15994945 20131206 RGD 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346212 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 1303248 Jam3 junctional adhesion molecule 3 gene DOID:9007748 Retinal Neovascularization ISO RGD:1551450 D RGD:7488936|PMID:15994945 20131206 RGD 1303249 Vkorc1l1 vitamin K epoxide reductase complex, subunit 1-like 1 gene DOID:10283 prostate cancer ISO RGD:1353419 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1303249 Vkorc1l1 vitamin K epoxide reductase complex, subunit 1-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353419 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303249 Vkorc1l1 vitamin K epoxide reductase complex, subunit 1-like 1 gene DOID:630 genetic disease ISO RGD:1353419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0050144 Kartagener syndrome ISO RGD:1351816 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:7240710 20140911 OMIM 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532|PMID:31650533 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:630 genetic disease ISO RGD:1351816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23891469|PMID:23891471|PMID:25741868|PMID:26824761|PMID:28492532|PMID:31650533|PMID:31879361|PMID:9536098 1303251 Mkrn1 makorin ring finger protein 1 gene DOID:0080690 RASopathy ISO RGD:1347564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1303251 Mkrn1 makorin ring finger protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347564 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303251 Mkrn1 makorin ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1347564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:7240710 20170510 OMIM 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 PMID:25217958|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:32097528|PMID:34216016 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:10534 stomach cancer ISO RGD:1606319 D RGD:153344525|PMID:34969361 20220819 RGD mRNA:decreased expression:stomach (human) 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:1059 intellectual disability ISO RGD:1606319 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25217958 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:12849 autistic disorder ISO RGD:1606319 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:5419 schizophrenia ISO RGD:1606319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:630 genetic disease ISO RGD:1606319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9002091 Paragangliomas 5 ISO RGD:1606319 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Paragangliomas 5 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28933030 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1606319 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28933030 1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9008879 Self Mutilation ISO RGD:1606319 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Self-mutilation PMID:25741868 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080307 myofibrillar myopathy ISO RGD:1605346 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:7240710 20190315 OMIM 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 8 PMID:17576681|PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:30515627|PMID:31455395|PMID:32037607|PMID:33694278|PMID:9536098 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605346 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:630 genetic disease ISO RGD:1605346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:30224651 1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746 1303254 Zdhhc23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:630 genetic disease ISO RGD:1345232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303254 Zdhhc23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1303255 Eif3d eukaryotic translation initiation factor 3, subunit D gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1352969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1303255 Eif3d eukaryotic translation initiation factor 3, subunit D gene DOID:10591 pre-eclampsia ISO RGD:1352969 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:34520790 1303255 Eif3d eukaryotic translation initiation factor 3, subunit D gene DOID:630 genetic disease ISO RGD:1352969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303256 Prss27 serine protease 27 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1303256 Prss27 serine protease 27 gene DOID:1826 epilepsy ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1303256 Prss27 serine protease 27 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1303256 Prss27 serine protease 27 gene DOID:630 genetic disease ISO RGD:1353298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:14780 KBG syndrome ISO RGD:1602304 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:630 genetic disease ISO RGD:1602304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1602304 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344749 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1344749 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1344749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344749 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344749 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9006836 Contracture ISO RGD:1344749 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344749 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0060017 CD3epsilon deficiency ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0080690 RASopathy ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0081330 glycogen storage disease Ib ISO RGD:1352647 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0110651 long QT syndrome 10 ISO RGD:1352647 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0111971 immunodeficiency 18 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0111972 immunodeficiency 19 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:0111973 immunodeficiency 17 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:1059 intellectual disability ISO RGD:1352647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:10652 Alzheimer's disease ISO RGD:1352647 D RGD:13792588|PMID:28474567 20190809 RGD 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:630 genetic disease ISO RGD:1352647 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352647 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303259 Atp5mg ATP synthase membrane subunit g gene DOID:9007661 Dwarfism ISO RGD:1352647 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1342792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303261 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1605075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 1303261 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:630 genetic disease ISO RGD:1605075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303261 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1605075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 1303263 Gk2 glycerol kinase 2 gene DOID:630 genetic disease ISO RGD:1353777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303263 Gk2 glycerol kinase 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:7240710 20200318 OMIM 1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 PMID:1978331|PMID:25741868 1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1347109 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:630 genetic disease ISO RGD:1347109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347109 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303267 Dxo decapping exoribonuclease gene DOID:0050553 JMP syndrome ISO RGD:1348619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303267 Dxo decapping exoribonuclease gene DOID:630 genetic disease ISO RGD:1348619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:0080600 COVID-19 ISO RGD:1602480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:630 genetic disease ISO RGD:1602480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:0050553 JMP syndrome ISO RGD:1354388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:2213 hemorrhagic disease ISO RGD:1354388 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:7240710 20190315 OMIM 1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis PMID:25741868|PMID:27743390 1303270 Prr3 proline rich 3 gene DOID:11372 megacolon ISO RGD:1343981 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303270 Prr3 proline rich 3 gene DOID:630 genetic disease ISO RGD:1343981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:7240710 20190315 OMIM 1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type PMID:27838789 1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:13714 anodontia ISO RGD:1602654 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth 1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1602654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532|PMID:32252256 1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:7240710 20130221 OMIM 1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 PMID:15292234|PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:24033266|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:32252256|PMID:5524089|PMID:9536098 1303272 Mmadhc metabolism of cobalamin associated D gene DOID:630 genetic disease ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1303272 Mmadhc metabolism of cobalamin associated D gene DOID:655 inherited metabolic disorder ISO RGD:1346733 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532 1303273 Pard6a par-6 family cell polarity regulator alpha gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1345737 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1303273 Pard6a par-6 family cell polarity regulator alpha gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1303273 Pard6a par-6 family cell polarity regulator alpha gene DOID:630 genetic disease ISO RGD:1345737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9589082|PMID:19626461 20141106 RGD DNA:SNP: : 39179G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606037 D RGD:9589120|PMID:24625449 20141107 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9589120|PMID:24625449 20141107 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606037 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1606037 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25290267|PMID:35663546 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:10647011|PMID:11102980|PMID:11919202|PMID:15580563|PMID:25741868|PMID:28492532|PMID:31479588 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15580563|PMID:15952214|PMID:17893117|PMID:18029387|PMID:18762900 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:1601084|PMID:10647011 20150730 RGD DNA:missense mutations, nonsense mutation: :multiple 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:7240710 20130221 OMIM 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:10555141|PMID:10588719|PMID:10647011|PMID:11038463|PMID:11102980|PMID:11741835|PMID:11919202|PMID:12239717|PMID:12925568|PMID:15580563|PMID:16501171|PMID:16543361|PMID:17576681|PMID:17893117|PMID:17908720|PMID:21549127|PMID:21559330|PMID:23486536|PMID:24033266|PMID:24577265|PMID:25741868|PMID:26851945|PMID:27153398|PMID:27479843|PMID:27734333|PMID:28128455|PMID:28454995|PMID:28492532|PMID:28713390|PMID:29255178|PMID:29659838|PMID:30010917|PMID:30630233|PMID:31479588|PMID:31686314|PMID:32135276|PMID:32888943|PMID:3361388|PMID:9536098 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:1324 lung cancer disease_progression ISO RGD:1606037 D RGD:9588658|PMID:24548441 20141104 RGD protein:increased expression:lung: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:14654 prostatitis IEP D RGD:9588290|PMID:20056826 20141024 RGD mRNA,protein:increased expression:prostate gland ventral lobe: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:1682 congenital heart disease IEP D RGD:9588314|PMID:23333085 20141028 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:2030 anxiety disorder IEP D RGD:9588317|PMID:23529784 20141028 RGD mRNA:decreased expression:hypothalamus: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:2526 prostate adenocarcinoma ISO RGD:1551604 D RGD:2289681|PMID:17178860 20141107 RGD mRNA,protein:increased expression:prostate gland: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:288 endometriosis of uterus ISO RGD:1606037 D RGD:9588664|PMID:22572543 20141104 RGD protein:increased expression:ectopic endometrium: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:289 endometriosis ISO RGD:1606037 D RGD:9588669|PMID:17081533 20141104 RGD mRNA:increased expression:endometrium: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:305 carcinoma ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3275 thymoma susceptibility ISO RGD:1606037 D RGD:9589098|PMID:24260492 20141107 RGD associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1606037 D RGD:9589121|PMID:22919364 20141107 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9589085|PMID:22213175 20141106 RGD protein:increased expression:nucleus: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9589086|PMID:15528220 20141106 RGD DNA:SNPs,haplotype:promoter:-283T >C,-579G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606037 D RGD:9589086|PMID:15528220 20141106 RGD DNA:SNPs:promoter:-283T >C,-579G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:5419 schizophrenia susceptibility ISO RGD:1606037 D RGD:9589091|PMID:19576953 20141106 RGD DNA:SNP,haplotype: :(rs6119954),(rs2424908)(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1606037 D RGD:9589078|PMID:18455294 20141106 RGD DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:612 primary immunodeficiency disease ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:630 genetic disease ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24577265|PMID:27479843|PMID:28492532|PMID:31686314 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:6705 gastric body carcinoma ISO RGD:1606037 D RGD:9589084|PMID:20127025 20141106 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma IEP D RGD:2289670|PMID:11844796 20170113 RGD mRNA, protein:increased expression:liver 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1606037 D RGD:9588598|PMID:15885882 20141031 RGD mRNA:increased expression:liver: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1606037 D RGD:9589110|PMID:19777235 20141107 RGD DNA:polymorphism:promoter:-283C>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9588667|PMID:11222358 20141104 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8923 skin melanoma disease_progression ISO RGD:1606037 D RGD:9589074|PMID:21081840 20141106 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606037 D RGD:9588662|PMID:18683034 20141104 RGD mRNA:decreased expression:mononuclear cell 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1606037 D RGD:9589094|PMID:23000068 20141107 RGD DNA:SNP:promoter: -579G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606037 D RGD:9589121|PMID:22919364 20141107 RGD associated with Carcinoma, Pancreatic Ductal; 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606037 D RGD:9589117|PMID:22330137 20141107 RGD associated with Uterine Cervical Neoplasms; 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9001030 Multiple Primary Neoplasms treatment ISO RGD:1606037 D RGD:9589077|PMID:22009713 20141106 RGD associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606037 D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002013 Facioscapulohumeral Muscular Dystrophy 4 ISO RGD:1606037 D RGD:7240710 20210825 OMIM 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002013 Facioscapulohumeral Muscular Dystrophy 4 ISO RGD:1606037 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic PMID:27153398|PMID:28492532 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606037 D RGD:9589146|PMID:15467427 20141110 RGD mRNA:decreased expression: B cell 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9590296|PMID:24717552 20141124 RGD mRNA:increased expression:adrenal gland: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16012746 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus ISO RGD:1606037 D RGD:9589075|PMID:22236544 20141106 RGD protein:increased expression:mouth mucosa: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus susceptibility ISO RGD:1606037 D RGD:9589075|PMID:22236544 20141106 RGD DNA:polymorphism: :C46359T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606037 D RGD:9589117|PMID:22330137 20141107 RGD mRNA:increased expression:uterine cervix: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1606037 D RGD:9589114|PMID:23677709 20141107 RGD DNA:SNP: :46359C>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1606037 D RGD:9588596|PMID:15721400 20141031 RGD mRNA,protein:increased expression:uterus: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment IEP D RGD:9588304|PMID:24447120 20141027 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606037 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9007456 Female Infertility ISO RGD:1606037 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34773530 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:1606037 D RGD:9588596|PMID:15721400 20141031 RGD mRNA,protein:decreased expression:uterus: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9589079|PMID:18662374 20141106 RGD DNA:SNP:promoter:-579G>T(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9589147|PMID:19843671 20141110 RGD DNA:SNP: :rs406193(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008644 Dysmenorrhea ISO RGD:1606037 D RGD:9588664|PMID:22572543 20141104 RGD protein:increased expression:ectopic endometrium: 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18221536|PMID:22520950 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia ISO RGD:1606037 D RGD:9588667|PMID:11222358 20141104 RGD mRNA:increased expression:CD34+ bone marrow cells 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9589071|PMID:23251566 20141106 RGD 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9589103|PMID:24069326 20141107 RGD DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9589108|PMID:16194411 20141107 RGD DNA:SNP:promoter: C>T46359(human) 1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606037 D RGD:9589109|PMID:21864931 20141107 RGD mRNA:increased expression:CD4+ T cell: 1303275 Eml5 EMAP like 5 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1350172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 1303275 Eml5 EMAP like 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350172 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1303275 Eml5 EMAP like 5 gene DOID:630 genetic disease ISO RGD:1350172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:630 genetic disease ISO RGD:1344113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344113 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:9001793 Generalized Epilepsy ISO RGD:1344113 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 1303278 Tmprss11b transmembrane serine protease 11B gene DOID:630 genetic disease ISO RGD:1606722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303278 Tmprss11b transmembrane serine protease 11B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606722 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1303279 St3gal6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1349452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303280 Btla B and T lymphocyte associated gene DOID:630 genetic disease ISO RGD:1350737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303281 Scgn secretagogin, EF-hand calcium binding protein gene DOID:630 genetic disease ISO RGD:1347901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303282 Notch4 notch receptor 4 gene DOID:0050553 JMP syndrome ISO RGD:1354309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303282 Notch4 notch receptor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1354309 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1303282 Notch4 notch receptor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1354309 D RGD:2299156|PMID:17440163 20080813 RGD 1303282 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868|PMID:27231971 1303282 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1553588 D RGD:6480671|PMID:19546852 20120330 RGD 1303282 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISS RGD:1553588 D RGD:13592920 20180518 MouseDO OMIM:108010 1303282 Notch4 notch receptor 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1354309 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 1303282 Notch4 notch receptor 4 gene DOID:10487 Hirschsprung's disease ISO RGD:1354309 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1303282 Notch4 notch receptor 4 gene DOID:1307 dementia ISO RGD:1354309 D RGD:6480775|PMID:21297263 20120403 RGD 1303282 Notch4 notch receptor 4 gene DOID:1380 endometrial cancer ISO RGD:1354309 D RGD:2299153|PMID:11078798 20080813 RGD mRNA:decreased expression:endometrium 1303282 Notch4 notch receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:1354309 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 1303282 Notch4 notch receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:1354309 D RGD:6480862|PMID:18802018 20120405 RGD 1303282 Notch4 notch receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:1354309 D RGD:6480692|PMID:21654846 20120402 RGD DNA: snps: cds: rs422951 1303282 Notch4 notch receptor 4 gene DOID:264 hemangiopericytoma ISO RGD:1354309 D RGD:155663351|PMID:26951238 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe 1303282 Notch4 notch receptor 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 1303282 Notch4 notch receptor 4 gene DOID:418 systemic scleroderma ISO RGD:1354309 D RGD:6480691|PMID:21779181 20120402 RGD DNA: SNPs: non-coding :multiple 1303282 Notch4 notch receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:1354309 D RGD:155641257|PMID:27388534 20221107 RGD mRNA,protein:increased expression:temporal lobe : 1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:1358753|PMID:14732589 19990101 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human) 1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:6480689|PMID:16894623 20120330 RGD DNA: SNP: intron: rs520692 1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia no_association ISO RGD:1353409 D RGD:6480690|PMID:15211628 20120402 RGD DNA: SNPs: :five SNPs in a Japanese population 1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human) PMID:14732589|REF_RGD_ID:1358753 1303282 Notch4 notch receptor 4 gene DOID:630 genetic disease ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303282 Notch4 notch receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1354309 D RGD:6480790|PMID:20132067 20120403 RGD mRNA : increased expression: : cd4+ cells 1303282 Notch4 notch receptor 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553588 D RGD:2299155|PMID:8030284 20080813 RGD DNA, mRNA:mutation, alternative form 1303282 Notch4 notch receptor 4 gene DOID:9004464 Skin Neoplasms ISO RGD:1354309 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 1303282 Notch4 notch receptor 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354309 D RGD:2299154|PMID:15531924 20080813 RGD 1303282 Notch4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy IEP D RGD:6480788|PMID:20706108 20120403 RGD protein: increased expression: kidney 1303282 Notch4 notch receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1354309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 1303282 Notch4 notch receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354309 D RGD:6480791|PMID:19143814 20120403 RGD DNA: SNP: 5' utr: rs2395106 1303282 Notch4 notch receptor 4 gene DOID:986 alopecia areata ISO RGD:1354309 D RGD:6480681|PMID:12589427 20120330 RGD 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:7240710 20140911 OMIM 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG6-CGD PMID:16199547|PMID:17576681|PMID:20605848|PMID:23430903|PMID:23606727|PMID:24033266|PMID:24667118|PMID:24667119|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:1059 intellectual disability ISO RGD:1346233 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23606727|PMID:25558065|PMID:25741868 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:11155 hypohidrosis ISO RGD:1346233 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:23606727|PMID:25558065|PMID:25741868 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1346233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:630 genetic disease ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:7240710 20140911 OMIM 1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:16199547|PMID:17576681|PMID:23606727|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0070355 overactive bladder syndrome IMP D RGD:10043365|PMID:21367919 20150526 RGD 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21367919|PMID:23523557 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:7240710 20140911 OMIM 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial episodic pain syndrome 1 PMID:20547126|PMID:25741868 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:2841 asthma ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:2841 asthma severity IMP D RGD:127285811|PMID:31969645 20210708 RGD ovalbumin sensitization 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:630 genetic disease ISO RGD:1344231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10043365|PMID:21367919 20150526 RGD mRNA,protein:increased expression:urinary bladder, dorsal root ganglion: 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000133 Sneezing ISO RGD:1344231 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000194 Cold Hypersensitivity IMP D RGD:10043615|PMID:21068322 20150527 RGD associated with Peripheral Nerve Injuries; 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000641 Pain ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:10043379|PMID:18514429 20150526 RGD protein:increased expression:dorsal root ganglion: 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9002211 Hyperalgesia IMP D RGD:10043618|PMID:18954467 20150527 RGD associated with Peripheral Nerve Injuries; 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18234885|PMID:21481532|PMID:23523557 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9005372 Inflammation ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9005734 Abdominal Pain IDA D RGD:10043376|PMID:24291101 20150526 RGD 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9007073 Cough ISO RGD:1344231 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9008820 Visceral Pain IMP D RGD:10043788|PMID:23099257 20150528 RGD associated with Colitis; 1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9743 diabetic neuropathy IMP D RGD:10043378|PMID:22133672 20150526 RGD 1303285 Sirt5 sirtuin 5 gene DOID:630 genetic disease ISO RGD:1351920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303286 Esam endothelial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1303286 Esam endothelial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348841 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1303286 Esam endothelial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1348841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1303286 Esam endothelial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1348841 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1303286 Esam endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1348841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303286 Esam endothelial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348841 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1303286 Esam endothelial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1348841 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1303287 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:0050553 JMP syndrome ISO RGD:1348475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303287 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1348475 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 1303287 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:630 genetic disease ISO RGD:1601681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601681 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303289 Nenf neudesin neurotrophic factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603399 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303289 Nenf neudesin neurotrophic factor gene DOID:630 genetic disease ISO RGD:1603399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303289 Nenf neudesin neurotrophic factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603399 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303290 Klhl10 kelch-like family member 10 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1344199 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 1303290 Klhl10 kelch-like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:7240710 20140903 OMIM 1303290 Klhl10 kelch-like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 11 PMID:17047026|PMID:25741868|PMID:28492532 1303290 Klhl10 kelch-like family member 10 gene DOID:630 genetic disease ISO RGD:1344199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303291 Mcpt1l2 mast cell protease 1-like 2 gene DOID:630 genetic disease ISO RGD:1601678 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303291 Mcpt1l2 mast cell protease 1-like 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1601678 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1353803 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:7240710 20190315 OMIM 1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 PMID:17576681|PMID:18306244|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098 1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:630 genetic disease ISO RGD:1353803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0060237 Warburg micro syndrome ISO RGD:1346411 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:7240710 20140911 OMIM 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 4 PMID:24239381|PMID:25741868|PMID:32740904 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:630 genetic disease ISO RGD:1346411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346411 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1346411 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 1303295 S100a11 S100 calcium binding protein A11 gene DOID:0080600 COVID-19 ISO RGD:1323591 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 1303295 S100a11 S100 calcium binding protein A11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1303295 S100a11 S100 calcium binding protein A11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1303295 S100a11 S100 calcium binding protein A11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1303295 S100a11 S100 calcium binding protein A11 gene DOID:1540 parathyroid carcinoma ISO RGD:1323591 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303295 S100a11 S100 calcium binding protein A11 gene DOID:5812 MHC class II deficiency ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1303295 S100a11 S100 calcium binding protein A11 gene DOID:630 genetic disease ISO RGD:1323591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303295 S100a11 S100 calcium binding protein A11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303295 S100a11 S100 calcium binding protein A11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323591 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 1303295 S100a11 S100 calcium binding protein A11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1303295 S100a11 S100 calcium binding protein A11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323591 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303296 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:38549391 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1303296 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:403 mouth disease ISO RGD:38549391 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 1303296 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:630 genetic disease ISO RGD:38549391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303297 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:7240710 20130221 OMIM 1303297 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens PMID:10233323|PMID:10620137|PMID:11531804|PMID:1380918|PMID:2004005|PMID:25741868|PMID:28492532|PMID:7521371|PMID:7524919|PMID:8077693|PMID:9204966|PMID:9804344 1303297 Krt2 keratin 2 gene DOID:1697 ichthyosis susceptibility ISO RGD:1342754 D RGD:1600192|PMID:7524919 20070302 RGD DNA:mutations 1303297 Krt2 keratin 2 gene DOID:2773 contact dermatitis ISO RGD:1342754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1303297 Krt2 keratin 2 gene DOID:630 genetic disease ISO RGD:1342754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303297 Krt2 keratin 2 gene DOID:9004728 Ichthyosis Exfoliativa ISO RGD:1342754 D RGD:8554872 20151006 ClinVar ClinVar Annotator: match by term: Ichthyosis exfoliativa PMID:10233323|PMID:2004005|PMID:7521371|PMID:7524919|PMID:8077693 1303298 Arl10 ADP-ribosylation factor like GTPase 10 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1303298 Arl10 ADP-ribosylation factor like GTPase 10 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1303298 Arl10 ADP-ribosylation factor like GTPase 10 gene DOID:630 genetic disease ISO RGD:1344087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:13580 cholestasis ISO RGD:1348496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:630 genetic disease ISO RGD:1348496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1303302 Nrg2 neuregulin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1303302 Nrg2 neuregulin 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606028 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1303302 Nrg2 neuregulin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303302 Nrg2 neuregulin 2 gene DOID:630 genetic disease ISO RGD:1606028 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303302 Nrg2 neuregulin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606028 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1303302 Nrg2 neuregulin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606028 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303302 Nrg2 neuregulin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1606812 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1606812 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1606812 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606812 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:630 genetic disease ISO RGD:1606812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303304 Gpank1 G patch domain and ankyrin repeats 1 gene DOID:0050553 JMP syndrome ISO RGD:1321766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303304 Gpank1 G patch domain and ankyrin repeats 1 gene DOID:11372 megacolon ISO RGD:1321766 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303304 Gpank1 G patch domain and ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1321766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303306 Cuta cutA divalent cation tolerance homolog gene DOID:0050553 JMP syndrome ISO RGD:1346513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303306 Cuta cutA divalent cation tolerance homolog gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1346513 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1303306 Cuta cutA divalent cation tolerance homolog gene DOID:630 genetic disease ISO RGD:1346513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303307 Kif13b kinesin family member 13B gene DOID:630 genetic disease ISO RGD:1349792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303308 Tspan1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1303308 Tspan1 tetraspanin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354320 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1303308 Tspan1 tetraspanin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354320 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1303308 Tspan1 tetraspanin 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:22554691|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29302074|PMID:29555514|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1354320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 1303308 Tspan1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1303308 Tspan1 tetraspanin 1 gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:1059 intellectual disability ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 1303308 Tspan1 tetraspanin 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 1303308 Tspan1 tetraspanin 1 gene DOID:630 genetic disease ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1354320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:9536098 1303308 Tspan1 tetraspanin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354320 D RGD:1331679|PMID:12115476 20150205 RGD 1303308 Tspan1 tetraspanin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1354320 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hypotonia 1303308 Tspan1 tetraspanin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1354320 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1303308 Tspan1 tetraspanin 1 gene DOID:9281 phenylketonuria ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 1303309 Gtf2h4 general transcription factor 2H subunit 4 gene DOID:0050553 JMP syndrome ISO RGD:1352501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303309 Gtf2h4 general transcription factor 2H subunit 4 gene DOID:11372 megacolon ISO RGD:1352501 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303309 Gtf2h4 general transcription factor 2H subunit 4 gene DOID:630 genetic disease ISO RGD:1352501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:0050553 JMP syndrome ISO RGD:1351897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:11372 megacolon ISO RGD:1351897 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:630 genetic disease ISO RGD:1351897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:1331681|PMID:12509789 19990101 RGD DNA:snp:promoter:c.-132T>A (rs2071592) (human) 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:12509789 1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351897 D RGD:7240710 20190329 OMIM 1303311 Lrrc46 leucine rich repeat containing 46 gene DOID:630 genetic disease ISO RGD:1602198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303311 Lrrc46 leucine rich repeat containing 46 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602198 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:7240710 20130221 OMIM 1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:18289905|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:7912128|PMID:9350306|PMID:9536098 1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:630 genetic disease ISO RGD:1347524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:784 chronic kidney disease ISO RGD:1347524 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604819 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9009223 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH ISO RGD:1604819 D RGD:7240710 20190315 OMIM 1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9009223 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth PMID:25741868|PMID:27431290|PMID:29868776 1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604819 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:11572212|PMID:26943237 20181226 RGD DNA:hypermethylation:promoter: 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:13831335|PMID:11130185 20181226 RGD protein:decreased expression:temporal cortex 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342599 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:630 genetic disease ISO RGD:1342599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:7240710 20210519 OMIM 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism with polyneuropathy PMID:25741868|PMID:33141179 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342599 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1303315 Tmem30a transmembrane protein 30A gene DOID:630 genetic disease ISO RGD:1345323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303316 Krt81 keratin 81 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:7240710 20130221 OMIM 1303316 Krt81 keratin 81 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:10469314|PMID:10594761|PMID:10878478|PMID:15050877|PMID:15744029|PMID:19400537|PMID:25326635|PMID:25741868|PMID:28492532|PMID:7556444|PMID:9241275|PMID:9402962|PMID:9457912|PMID:9665406|PMID:9804356 1303316 Krt81 keratin 81 gene DOID:1612 breast cancer susceptibility ISO RGD:1352979 D RGD:155882455|PMID:32678982 20230119 RGD DNA:SNP:3'UTR:rs3660(human) 1303316 Krt81 keratin 81 gene DOID:421 hair disease susceptibility ISO RGD:1352979 D RGD:1600197|PMID:9402962 20070302 RGD protein:mutation: ; E403K; monilethrix, OMIM:158000 1303316 Krt81 keratin 81 gene DOID:630 genetic disease ISO RGD:1352979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303317 Atf6b activating transcription factor 6 beta gene DOID:0050553 JMP syndrome ISO RGD:1346168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303317 Atf6b activating transcription factor 6 beta gene DOID:630 genetic disease ISO RGD:1346168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:7240710 20130221 OMIM 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 22 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 PMID:17576681|PMID:18452889|PMID:18455129|PMID:21681106|PMID:21739581|PMID:23806237|PMID:25626710|PMID:25741868|PMID:27148795|PMID:28492532|PMID:28820871|PMID:9536098 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:28820871 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:630 genetic disease ISO RGD:1606831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28820871 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606831 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303318 Tusc3 tumor suppressor candidate 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606831 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21739581|PMID:25741868 1303319 Tmem248 transmembrane protein 248 gene DOID:14755 argininosuccinic aciduria ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 1303319 Tmem248 transmembrane protein 248 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602880 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1303319 Tmem248 transmembrane protein 248 gene DOID:630 genetic disease ISO RGD:1602880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351629 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1551869 D RGD:1331842|PMID:12351651 20160503 RGD 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:11073696|PMID:14617031 20160503 RGD associated with schizophrenia;DNA:SNPs:exons, intron:multiple 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14617031 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1351629 D RGD:11073691|PMID:18314446 20160503 RGD DNA:deletion:promoter: (human) 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1351629 D RGD:7240710 20230505 OMIM 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:2394 ovarian cancer ISO RGD:1351629 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:2773 contact dermatitis ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1351629 D RGD:11073689|PMID:21351093 20160503 RGD DNA:SNP: :rs1143684 (human) 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:4961 bone marrow disease ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12351651 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:630 genetic disease ISO RGD:1351629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9002514 Neointima IMP D RGD:11073699|PMID:22508052 20160503 RGD 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:1551869 D RGD:10769360|PMID:16678022 20160210 RGD 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9008023 Memory Disorders ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20861374 1303320 Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351629 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 1303321 Ier3 immediate early response 3 gene DOID:0050553 JMP syndrome ISO RGD:1347080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303321 Ier3 immediate early response 3 gene DOID:0080600 COVID-19 ISO RGD:1347080 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1303321 Ier3 immediate early response 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347080 D RGD:1331843|PMID:14534530 19990101 RGD human gene in a mouse model 1303321 Ier3 immediate early response 3 gene DOID:10763 hypertension ISO RGD:1347080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20713914 1303321 Ier3 immediate early response 3 gene DOID:11372 megacolon ISO RGD:1347080 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303321 Ier3 immediate early response 3 gene DOID:2772 irritant dermatitis ISO RGD:1347080 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 1303321 Ier3 immediate early response 3 gene DOID:37 skin disease ISO RGD:1347080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1303321 Ier3 immediate early response 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1303322 Krt26 keratin 26 gene DOID:630 genetic disease ISO RGD:1343053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:0080773 delta beta-thalassemia ISO RGD:1350768 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:1612 breast cancer ISO RGD:1350768 D RGD:7240710 20190315 OMIM 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350768 D RGD:11522474|PMID:26196590 20220105 RGD mRNA:decreased expression:colorectum (human) 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3247 rhabdomyosarcoma ISO RGD:1350768 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic PMID:9520460 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3458 breast adenocarcinoma ISO RGD:1350768 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:9520460 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3905 lung carcinoma ISO RGD:1350768 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:9751628 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350768 D RGD:150557424|PMID:25498886 20220105 RGD mRNA:increased expression:lung (human) 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350768 D RGD:150557425|PMID:22237119 20220105 RGD protein:increased expression:lung (human) 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3910 lung adenocarcinoma ISO RGD:1350768 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1350768 D RGD:150557423|PMID:32726996 20220105 RGD mRNA:increased expression:lung (human) 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1350768 D RGD:150557426|PMID:23243219 20220105 RGD DNA:hypermethylation: (human) 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:630 genetic disease ISO RGD:1350768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1350768 D RGD:7240710 20190315 OMIM 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9007643 Embryonal Rhabdomyosarcoma 1 ISO RGD:1350768 D RGD:7240710 20190315 OMIM 1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1350768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1303324 Brd2 bromodomain containing 2 gene DOID:0050553 JMP syndrome ISO RGD:1350574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303324 Brd2 bromodomain containing 2 gene DOID:0050902 medulloblastoma ISO RGD:1350574 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 1303324 Brd2 bromodomain containing 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1350574 D RGD:9586345|PMID:14563639 20140929 RGD 1303324 Brd2 bromodomain containing 2 gene DOID:1909 melanoma ISO RGD:1350574 D RGD:9586346|PMID:23950209 20140929 RGD protein:mRNA:skin: 1303324 Brd2 bromodomain containing 2 gene DOID:2018 hyperinsulinism ISO RGD:1551876 D RGD:9586446|PMID:19883376 20141001 RGD 1303324 Brd2 bromodomain containing 2 gene DOID:3068 glioblastoma ISO RGD:1350574 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:27388964 1303324 Brd2 bromodomain containing 2 gene DOID:3159 photosensitivity disease susceptibility ISO RGD:1350574 D RGD:9586343|PMID:16516380 20140929 RGD DNA:SNPs,haplotype: : 1303324 Brd2 bromodomain containing 2 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1350574 D RGD:1358444|PMID:12830434 19990101 RGD DNA:SNPs:promoter (human) 1303324 Brd2 bromodomain containing 2 gene DOID:630 genetic disease ISO RGD:1350574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303324 Brd2 bromodomain containing 2 gene DOID:707 B-cell lymphoma ISO RGD:1350574 D RGD:9586345|PMID:14563639 20140929 RGD 1303324 Brd2 bromodomain containing 2 gene DOID:9970 obesity ISO RGD:1551876 D RGD:9586446|PMID:19883376 20141001 RGD 1303325 Nelfe negative elongation factor complex member E gene DOID:0050553 JMP syndrome ISO RGD:1344973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303325 Nelfe negative elongation factor complex member E gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1344973 D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1303325 Nelfe negative elongation factor complex member E gene DOID:630 genetic disease ISO RGD:1344973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303326 Dhps deoxyhypusine synthase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1303326 Dhps deoxyhypusine synthase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1303326 Dhps deoxyhypusine synthase gene DOID:0111254 glutaric acidemia I ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1303326 Dhps deoxyhypusine synthase gene DOID:3413 alpha-mannosidosis ISO RGD:1602903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1303326 Dhps deoxyhypusine synthase gene DOID:630 genetic disease ISO RGD:1602903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1303326 Dhps deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:7240710 20190807 OMIM 1303326 Dhps deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment PMID:25741868|PMID:30661771 1303327 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1347293 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1303327 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:630 genetic disease ISO RGD:1347293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303327 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:9256 colorectal cancer ISO RGD:1347293 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1303328 Clint1 clathrin interactor 1 gene DOID:630 genetic disease ISO RGD:1602726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1553848 D RGD:8694458|PMID:14519688 20140805 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1553848 D RGD:8695939|PMID:20095043 20140806 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8547536|PMID:20212494 20140217 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8694457|PMID:11139240 20140805 RGD DNA:mutations:cds: 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome treatment ISO RGD:1604645 D RGD:8695937|PMID:23380860 20140806 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1553848 D RGD:8694458|PMID:14519688 20140805 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:7240710 20130425 OMIM 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33724713 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8695918|PMID:21487335 20140806 RGD DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human) 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8695921|PMID:17407589 20140806 RGD DNA:mutation:cds: c.216G>A(human) 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 onset ISO RGD:1604645 D RGD:8695919|PMID:23251578 20140806 RGD DNA:deletion:exon:c.1220delG(human) 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110827 Usher syndrome type 2 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1604645 D RGD:8554872 20171003 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12136232 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:1600453|PMID:10973247 20140806 RGD DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human) 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:7240710 20130425 OMIM 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205 1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:33095980|PMID:33781268|PMID:9536098|PMID:9760205 1303329 Ush1c USH1 protein network component harmonin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1604645 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1303329 Ush1c USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss ISO RGD:1553848 D RGD:8695932|PMID:20211154 20140806 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1554257 D RGD:1600453|PMID:10973247 20070309 RGD DNA:splice-site mutation, frameshift mutation 1303329 Ush1c USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8547536|PMID:20212494 20140217 RGD 1303329 Ush1c USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29490346|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:1059 intellectual disability ISO RGD:1604645 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1303329 Ush1c USH1 protein network component harmonin gene DOID:630 genetic disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532 1303329 Ush1c USH1 protein network component harmonin gene DOID:8501 fundus dystrophy ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27208204|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 1303329 Ush1c USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:23967202|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 1303329 Ush1c USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8694454|PMID:12136232 20140805 RGD DNA:mutations:cds: 1303329 Ush1c USH1 protein network component harmonin gene DOID:9005581 Autosomal Recessive Nonsyndromic Deafness 18 ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33724713 1303329 Ush1c USH1 protein network component harmonin gene DOID:9849 Meniere's disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340 1303330 Prss57 serine protease 57 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1342482 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1303330 Prss57 serine protease 57 gene DOID:0080600 COVID-19 ISO RGD:1342482 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1303330 Prss57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1303330 Prss57 serine protease 57 gene DOID:5339 cyclic hematopoiesis ISO RGD:1342482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1303330 Prss57 serine protease 57 gene DOID:630 genetic disease ISO RGD:1342482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:16199547|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31167812|PMID:32504494 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:7240710 20130221 OMIM 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:10446192|PMID:11704758|PMID:15136689|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:9536098 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:9536098 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1344743 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:7240710 20200520 OMIM 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:11112660|PMID:15749016|PMID:16199547|PMID:18414213|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:1059 intellectual disability ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:10907 microcephaly ISO RGD:1344743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:1826 epilepsy ISO RGD:1344743 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:9536098 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344743 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11112660|PMID:15749016|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9001793 Generalized Epilepsy ISO RGD:1344743 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:25741868|PMID:28492532 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9004565 Ataxia with Oculomotor Apraxia Type 4 ISO RGD:1344743 D RGD:7240710 20170215 OMIM 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9004565 Ataxia with Oculomotor Apraxia Type 4 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647|PMID:9536098 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9006534 Nervous System Malformations ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899|PMID:32056211 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1344743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 1303333 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:0050553 JMP syndrome ISO RGD:1342827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1303333 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:11372 megacolon ISO RGD:1342827 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1303333 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:630 genetic disease ISO RGD:1342827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303334 Hyal3 hyaluronidase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1303334 Hyal3 hyaluronidase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1303334 Hyal3 hyaluronidase 3 gene DOID:630 genetic disease ISO RGD:1344724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303334 Hyal3 hyaluronidase 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344724 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1303334 Hyal3 hyaluronidase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1303335 Ggt6 gamma-glutamyl transferase 6 gene DOID:630 genetic disease ISO RGD:1603275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606038 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:11041122|PMID:21415852 20160322 RGD DNA:mutations:cds: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:11041124|PMID:22066015 20160322 RGD DNA:missense mutation:exon:p.R882 (human) 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0070004 myeloid neoplasm ISO RGD:1606038 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:7240710 20170419 OMIM 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:11836534|PMID:15456878|PMID:16199547|PMID:17576681|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:24728327|PMID:25363760|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26866722|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29740169|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32435502|PMID:32581362|PMID:32860008|PMID:33182397|PMID:33238114|PMID:34315901|PMID:34788385|PMID:9536098 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:10534 stomach cancer susceptibility ISO RGD:1606038 D RGD:9589068|PMID:20128888 20141106 RGD DNA:polymorphism:promoter:-488A>G(rs36012910)(human) 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:10907 microcephaly ISO RGD:1606038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:11446 sciatic neuropathy ISO RGD:1620920 D RGD:9589072|PMID:22031875 20141106 RGD protein:increased expression:brain: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1324 lung cancer disease_progression ISO RGD:1606038 D RGD:9588658|PMID:24548441 20141104 RGD protein:increased expression:lung: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:14654 prostatitis IEP D RGD:9588290|PMID:20056826 20141024 RGD mRNA,protein:increased expression:prostate gland ventral lobe: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1596 depressive disorder ISO RGD:1620920 D RGD:9589061|PMID:20729844 20141105 RGD mRNA:increased expression:nucleus accumbens: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1682 congenital heart disease IEP D RGD:9588314|PMID:23333085 20141028 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1909 melanoma ISO RGD:1606038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24614070|PMID:28475857|PMID:28492532|PMID:29900417 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1620920 D RGD:2289681|PMID:17178860 20141107 RGD mRNA:increased expression:prostate gland: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:288 endometriosis of uterus ISO RGD:1606038 D RGD:9588664|PMID:22572543 20141104 RGD protein:decreased expression:endometrium: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:289 endometriosis ISO RGD:1606038 D RGD:9588669|PMID:17081533 20141104 RGD mRNA:increased expression:endometrium: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3068 glioblastoma ISO RGD:1606038 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Glioblastoma 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620920 D RGD:9589066|PMID:24399935 20141106 RGD protein:decreased expression:mitochondrion: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3525 middle cerebral artery infarction IMP D RGD:9589049|PMID:23516428 20141105 RGD 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3905 lung carcinoma disease_progression IDA D RGD:9588222|PMID:21163286 20141022 RGD protein:increased expression:nucleus: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606038 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:4961 bone marrow disease ISO RGD:1620920 D RGD:11041127|PMID:25416277 20160322 RGD 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1606038 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:1606038 D RGD:9589073|PMID:23341344 20141106 RGD DNA:mutations: : 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia susceptibility ISO RGD:1606038 D RGD:11041131|PMID:26072070 20160322 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human) 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:630 genetic disease ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836534|PMID:15456878|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34315901|PMID:34788385 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma IEP D RGD:2289670|PMID:11844796 20170113 RGD mRNA, protein:increased expression:liver 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1606038 D RGD:9588598|PMID:15885882 20141031 RGD protein:increased expression:liver: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8541 Sezary's disease ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9588667|PMID:11222358 20141104 RGD 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8778 Crohn's disease ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8864 acute monocytic leukemia ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399634 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606038 D RGD:9588662|PMID:18683034 20141104 RGD mRNA:decreased expression:mononuclear cell 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9001487 Facies ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9588620|PMID:23716065 20141103 RGD protein:decreased expression:brain: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21067377|PMID:21518476|PMID:22160010|PMID:22744846|PMID:22898539|PMID:24606448|PMID:25741868|PMID:26619011|PMID:26822784|PMID:27317772|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30478443|PMID:31620784|PMID:31961069 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:7240710 20200226 OMIM 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome PMID:11836534|PMID:15456878|PMID:25741868|PMID:26912663|PMID:28492532|PMID:30478443 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1606038 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9006257 Growth Disorders ISO RGD:1606038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24614070|PMID:30478443 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9006534 Nervous System Malformations ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26876596|PMID:27991732|PMID:28166811|PMID:28492532|PMID:28941052|PMID:30185810|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9007661 Dwarfism ISO RGD:1606038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9007702 Carcinogenesis disease_progression IDA D RGD:9588222|PMID:21163286 20141022 RGD 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22520950 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:27335278 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:7240710 20190315 OMIM 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898540|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32581362|PMID:34788385 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:9588667|PMID:11222358 20141104 RGD mRNA:increased expression:CD34+ bone marrow cells 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:9589067|PMID:22291079 20141106 RGD DNA:mutations:cds: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:11041121|PMID:26242829 20160322 RGD DNA:hypomethylation: : 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:11041123|PMID:24512939 20160322 RGD DNA:missense mutation:exon:p.R882 (human) 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606038 D RGD:11041122|PMID:21415852 20160322 RGD associated with Myelodysplastic Syndromes; DNA:mutations:cds: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1606038 D RGD:11041120|PMID:25609058 20160322 RGD DNA:mutation:: 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9538 multiple myeloma ISO RGD:1606038 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1606038 D RGD:11041125|PMID:25242092 20160322 RGD DNA:mutations:exon, intron:p.R882(human) 1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9970 obesity ISO RGD:1606038 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 1303337 Arl9 ADP-ribosylation factor like GTPase 9 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 1303337 Arl9 ADP-ribosylation factor like GTPase 9 gene DOID:630 genetic disease ISO RGD:1606161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:630 genetic disease ISO RGD:1351307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351307 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347298 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347298 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347298 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0111621 Temtamy syndrome ISO RGD:1347298 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:630 genetic disease ISO RGD:1347298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:850 lung disease ISO RGD:1347298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 1303339 Clec4d C-type lectin domain family 4, member D gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347298 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1303340 Vmac vimentin-type intermediate filament associated coiled-coil protein gene DOID:630 genetic disease ISO RGD:1606370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303341 Reg4 regenerating family member 4 gene DOID:0050722 PHGDH deficiency ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 1303341 Reg4 regenerating family member 4 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 1303341 Reg4 regenerating family member 4 gene DOID:630 genetic disease ISO RGD:1352664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1303341 Reg4 regenerating family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17237819 1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:1793 pancreatic cancer ISO RGD:1605311 D RGD:5490966|PMID:18772397 20110926 RGD 1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1605311 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28677295 1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1605311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605311 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605311 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1304551 Ush1g USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8547536|PMID:20212494 20140217 RGD 1304551 Ush1g USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Usher syndrome 1304551 Ush1g USH1 protein network component sans gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312053 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 1304551 Ush1g USH1 protein network component sans gene DOID:0110826 Usher syndrome type 1 ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11941484|PMID:12588794|PMID:21569298|PMID:25741868|PMID:28492532 1304551 Ush1g USH1 protein network component sans gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1312053 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 1304551 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:7240710 20130221 OMIM 1304551 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11941484|PMID:12588794|PMID:15660226|PMID:16283141|PMID:17576681|PMID:17896313|PMID:20142502|PMID:21044053|PMID:22135276|PMID:22219650|PMID:23591405|PMID:24033266|PMID:25255398|PMID:25741868|PMID:26467025|PMID:26878454|PMID:27068579|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28944237|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30828346|PMID:31637240|PMID:33095980|PMID:33946315|PMID:35802133|PMID:36633841|PMID:9536098 1304551 Ush1g USH1 protein network component sans gene DOID:10584 retinitis pigmentosa ISO RGD:1312053 D RGD:8547536|PMID:20212494 20140217 RGD 1304551 Ush1g USH1 protein network component sans gene DOID:630 genetic disease ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 1304551 Ush1g USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30029624 1304551 Ush1g USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:30872814|PMID:31637240 1304551 Ush1g USH1 protein network component sans gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1312053 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:30029624 1304551 Ush1g USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:1599547|PMID:12588794 20070207 RGD Usher syndrome, type IG, OMIM:607696 1304551 Ush1g USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868|PMID:30303587 1304553 Ifi35 interferon-induced protein 35 gene DOID:630 genetic disease ISO RGD:1312056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304553 Ifi35 interferon-induced protein 35 gene DOID:9001488 Human Influenza ISO RGD:1312056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1304553 Ifi35 interferon-induced protein 35 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304553 Ifi35 interferon-induced protein 35 gene DOID:9003281 Spontaneous Abortions ISO RGD:1312056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1304555 Cog3 component of oligomeric golgi complex 3 gene DOID:630 genetic disease ISO RGD:1312059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304556 Actg1 actin, gamma 1 gene DOID:0050453 lissencephaly ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:22366783|PMID:25741868|PMID:27240540|PMID:28492532|PMID:29671837 1304556 Actg1 actin, gamma 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312061 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:13680526|PMID:19477959|PMID:30311386 1304556 Actg1 actin, gamma 1 gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome PMID:31231230|PMID:32028042 1304556 Actg1 actin, gamma 1 gene DOID:0080205 CAKUT ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18414213|PMID:22366783|PMID:30143558|PMID:3351890 1304556 Actg1 actin, gamma 1 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME PMID:31231230|PMID:32028042 1304556 Actg1 actin, gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:7240710 20140903 OMIM 1304556 Actg1 actin, gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 PMID:14684684|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19548389|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30622556|PMID:3351890|PMID:33584783|PMID:33604570|PMID:9536098 1304556 Actg1 actin, gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:7240710 20140219 OMIM 1304556 Actg1 actin, gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 20 PMID:12519370|PMID:13680526|PMID:14684684|PMID:16773128|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22366783|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30622556|PMID:31231230|PMID:32028042|PMID:33584783|PMID:35802133|PMID:36633841|PMID:5654493|PMID:9536098 1304556 Actg1 actin, gamma 1 gene DOID:1059 intellectual disability ISO RGD:1312061 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1304556 Actg1 actin, gamma 1 gene DOID:10907 microcephaly ISO RGD:1312061 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1304556 Actg1 actin, gamma 1 gene DOID:11476 osteoporosis ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1304556 Actg1 actin, gamma 1 gene DOID:12270 coloboma ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 1304556 Actg1 actin, gamma 1 gene DOID:305 carcinoma ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1304556 Actg1 actin, gamma 1 gene DOID:630 genetic disease ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16773128|PMID:22366783|PMID:24033266|PMID:25741868|PMID:27240540|PMID:28492532 1304556 Actg1 actin, gamma 1 gene DOID:9000307 Presbycusis ISO RGD:3077730 D RGD:1331525|PMID:15118671 19990101 GAD 1304556 Actg1 actin, gamma 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1304556 Actg1 actin, gamma 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1304556 Actg1 actin, gamma 1 gene DOID:9004538 Hearing Loss ISO RGD:1312061 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:30311386 1304556 Actg1 actin, gamma 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1304556 Actg1 actin, gamma 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 1304556 Actg1 actin, gamma 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 1304556 Actg1 actin, gamma 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 1304559 Wnt6 Wnt family member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1312067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1304559 Wnt6 Wnt family member 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312067 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 1304559 Wnt6 Wnt family member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1304559 Wnt6 Wnt family member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1304559 Wnt6 Wnt family member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 1304559 Wnt6 Wnt family member 6 gene DOID:630 genetic disease ISO RGD:1312067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304559 Wnt6 Wnt family member 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312068 D RGD:2298845|PMID:18649356 20080728 RGD 1304559 Wnt6 Wnt family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312067 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304559 Wnt6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312068 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1304559 Wnt6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1312068 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:14227 azoospermia ISO RGD:1348488 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1348488 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348488 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304561 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:630 genetic disease ISO RGD:1312070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304561 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312070 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1304561 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9270 alkaptonuria ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1304562 Tbc1d1 TBC1 domain family member 1 gene DOID:0080205 CAKUT ISO RGD:1349688 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation PMID:25741868 1304562 Tbc1d1 TBC1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1349688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304562 Tbc1d1 TBC1 domain family member 1 gene DOID:9970 obesity ISO RGD:1349688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16893906|PMID:18325908|PMID:18931681 1304563 Syne3 spectrin repeat containing, nuclear envelope family member 3 gene DOID:12858 Huntington's disease ISO RGD:1312072 D RGD:9068941 20200609 RGD up-regulated PMID:22202438|REF_RGD_ID:11073597 1304563 Syne3 spectrin repeat containing, nuclear envelope family member 3 gene DOID:630 genetic disease ISO RGD:1312072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304565 Senp6 SUMO specific peptidase 6 gene DOID:630 genetic disease ISO RGD:1312076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304565 Senp6 SUMO specific peptidase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312076 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1312078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:630 genetic disease ISO RGD:1312078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312078 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603248 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:11372 megacolon ISO RGD:1603248 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:630 genetic disease ISO RGD:1603248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603248 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:5295 intestinal disease ISO RGD:12184798 D RGD:9068941 20220128 OMIA Lundehund syndrome PMID:25860808|PMID:27485430|PMID:7946268|PMID:853728 1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:5419 schizophrenia ISO RGD:1312081 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:630 genetic disease ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:7240710 20140911 OMIM 1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration PMID:21885030|PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 1304569 Fem1b fem-1 homolog B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1304569 Fem1b fem-1 homolog B gene DOID:2717 Bloom syndrome ISO RGD:1312083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304569 Fem1b fem-1 homolog B gene DOID:630 genetic disease ISO RGD:1312083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304569 Fem1b fem-1 homolog B gene DOID:9256 colorectal cancer ISO RGD:1312083 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304569 Fem1b fem-1 homolog B gene DOID:9352 type 2 diabetes mellitus ISS RGD:1312084 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 1304570 Fn3krp fructosamine-3-kinase-related protein gene DOID:630 genetic disease ISO RGD:1606224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304571 Ebpl EBP like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312086 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1304571 Ebpl EBP like gene DOID:1059 intellectual disability ISO RGD:1312086 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304571 Ebpl EBP like gene DOID:630 genetic disease ISO RGD:1312086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304572 Rnf150 ring finger protein 150 gene DOID:630 genetic disease ISO RGD:1322589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312089 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:13938 amenorrhea ISO RGD:1312089 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1312089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304574 Selenon selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302 1304574 Selenon selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:7224095 1304574 Selenon selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:33652732|PMID:7224095 1304574 Selenon selenoprotein N gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095 1304574 Selenon selenoprotein N gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1603617 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1304574 Selenon selenoprotein N gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:1599352|PMID:11528383 20070130 RGD DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human) 1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:7240710 20130221 OMIM 1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:11079538|PMID:11528383|PMID:1219264|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:16779558|PMID:17365175|PMID:17576681|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:19285539|PMID:19557870|PMID:19763152|PMID:20301436|PMID:20307669|PMID:20623375|PMID:20937510|PMID:21131290|PMID:21520333|PMID:21670436|PMID:22406018|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25525159|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066551|PMID:27447704|PMID:27863379|PMID:28357410|PMID:28492532|PMID:28558865|PMID:28688748|PMID:29172004|PMID:29382405|PMID:29669168|PMID:30612914|PMID:30642275|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32154989|PMID:32528171|PMID:32746448|PMID:32796131|PMID:32860008|PMID:33184643|PMID:33333461|PMID:33652732|PMID:33762497|PMID:35368679|PMID:7224095|PMID:9536098|PMID:9585610 1304574 Selenon selenoprotein N gene DOID:630 genetic disease ISO RGD:1603617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304574 Selenon selenoprotein N gene DOID:9005077 Joint Instability ISO RGD:1603617 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:28492532 1304574 Selenon selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17123513 1304574 Selenon selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18713863|PMID:19067361|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30921636 1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:470 verrucous keratotic hemangioma ISO RGD:1312092 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Verrucous hemangioma PMID:25741868 1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1312092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312092 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 1304576 Vps37b VPS37B subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304577 Zfp13 zinc finger protein 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304577 Zfp13 zinc finger protein 13 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1304577 Zfp13 zinc finger protein 13 gene DOID:1826 epilepsy ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304577 Zfp13 zinc finger protein 13 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304577 Zfp13 zinc finger protein 13 gene DOID:630 genetic disease ISO RGD:1312095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304579 Trim5 tripartite motif-containing 5 gene DOID:10283 prostate cancer ISO RGD:1343210 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304579 Trim5 tripartite motif-containing 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343210 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15249687 1304579 Trim5 tripartite motif-containing 5 gene DOID:630 genetic disease ISO RGD:1343210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:23348741|PMID:24033266|PMID:28492532|PMID:28958982 1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:7240710 20170405 OMIM 1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 76 PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982|PMID:35802133|PMID:36633841 1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:630 genetic disease ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1304581 Hebp1 heme binding protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1304581 Hebp1 heme binding protein 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1312101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1304581 Hebp1 heme binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1312101 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304581 Hebp1 heme binding protein 1 gene DOID:630 genetic disease ISO RGD:1312101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304582 Mtm1 myotubularin 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1312103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 1304582 Mtm1 myotubularin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1304582 Mtm1 myotubularin 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 1304582 Mtm1 myotubularin 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10215413|PMID:10449925|PMID:10502779|PMID:10714588|PMID:10726846|PMID:10790201|PMID:10900271|PMID:11456308|PMID:11552027|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12467733|PMID:12522554|PMID:12646134|PMID:12707446|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:18817572|PMID:19084976|PMID:20301605|PMID:20358311|PMID:20434914|PMID:21135508|PMID:22068590|PMID:22520358|PMID:22968136|PMID:23071445|PMID:2352255|PMID:23818870|PMID:23917616|PMID:24033266|PMID:24381816|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26338224|PMID:26467025|PMID:26898940|PMID:26938784|PMID:27017278|PMID:27363342|PMID:28007904|PMID:28492532|PMID:28685322|PMID:29567349|PMID:30047259|PMID:30232666|PMID:30241883|PMID:30884204|PMID:30902907|PMID:31541013|PMID:32805447|PMID:33164942|PMID:34011573|PMID:34782754|PMID:7611280|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861 1304582 Mtm1 myotubularin 1 gene DOID:12849 autistic disorder ISO RGD:1312103 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304582 Mtm1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:18414213 1304582 Mtm1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISS RGD:1312104 D RGD:13592920 20180726 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 1304582 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism PMID:17376685 1304582 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:1600519|PMID:8640223 20070312 RGD myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human) 1304582 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 PMID:12118066|PMID:17005396|PMID:19084976|PMID:25741868|PMID:25957634|PMID:28492532|PMID:9285787 1304582 Mtm1 myotubularin 1 gene DOID:423 myopathy ISO RGD:1312103 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Myopathy PMID:32581362 1304582 Mtm1 myotubularin 1 gene DOID:607 paraplegia ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10790201|PMID:11793470|PMID:12646134|PMID:17973976|PMID:18414213|PMID:21135508|PMID:22520358|PMID:23071445|PMID:23917616|PMID:25741868|PMID:26338224|PMID:28492532|PMID:32805447|PMID:9285787|PMID:9305655 1304582 Mtm1 myotubularin 1 gene DOID:630 genetic disease ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223 1304582 Mtm1 myotubularin 1 gene DOID:8488 polyhydramnios ISO RGD:1312103 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 1304582 Mtm1 myotubularin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312103 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 1304583 Ago4 argonaute RISC component 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312105 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1304583 Ago4 argonaute RISC component 4 gene DOID:630 genetic disease ISO RGD:1312105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304584 Fbxo28 F-box protein 28 gene DOID:1540 parathyroid carcinoma ISO RGD:1312107 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304584 Fbxo28 F-box protein 28 gene DOID:630 genetic disease ISO RGD:1312107 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356899|PMID:33280099 1304584 Fbxo28 F-box protein 28 gene DOID:9003577 Developmental and Epileptic Encephalopathy 100 ISO RGD:1312107 D RGD:7240710 20220316 OMIM 1304584 Fbxo28 F-box protein 28 gene DOID:9003577 Developmental and Epileptic Encephalopathy 100 ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 PMID:25356899|PMID:33280099 1304584 Fbxo28 F-box protein 28 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312107 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304585 Lysmd2 LysM domain containing 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1605838 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 1304585 Lysmd2 LysM domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1605838 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1304585 Lysmd2 LysM domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1605838 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304585 Lysmd2 LysM domain containing 2 gene DOID:607 paraplegia ISO RGD:1605838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1304585 Lysmd2 LysM domain containing 2 gene DOID:630 genetic disease ISO RGD:1605838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304585 Lysmd2 LysM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1605838 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:17576681|PMID:17684380|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:31168818|PMID:31586585|PMID:32707200|PMID:9536098 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1312110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16675967 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1312110 D RGD:1598548|PMID:12915478 20061203 RGD 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:7240710 20130221 OMIM 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A PMID:10094194|PMID:12915478|PMID:15756637|PMID:19262603|PMID:19664001|PMID:20672373|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:32707200|PMID:32851342|PMID:8845852 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:7240710 20130221 OMIM 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B PMID:15756637|PMID:16902423|PMID:17684380|PMID:19262603|PMID:19664001|PMID:20672373|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:29543227|PMID:29880184|PMID:30916489|PMID:31168818|PMID:31586585|PMID:34906502|PMID:35216886 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1312110 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9002801 Recurrence ISO RGD:1312110 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312110 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1312110 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312110 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:936 brain disease ISO RGD:1312110 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1312112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:630 genetic disease ISO RGD:1312112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312112 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304588 Lpin2 lipin 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312114 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1304588 Lpin2 lipin 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 1304588 Lpin2 lipin 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1312114 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 1304588 Lpin2 lipin 2 gene DOID:1059 intellectual disability ISO RGD:1312114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304588 Lpin2 lipin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312114 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1304588 Lpin2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098 1304588 Lpin2 lipin 2 gene DOID:630 genetic disease ISO RGD:1312114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304588 Lpin2 lipin 2 gene DOID:8893 psoriasis ISO RGD:1312114 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Psoriasis PMID:25741868|PMID:28492532 1304588 Lpin2 lipin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312114 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304588 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:7240710 20130221 OMIM 1304588 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:10969284|PMID:11795677|PMID:15994876|PMID:16199547|PMID:17330256|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:28600779|PMID:29387759|PMID:31598604|PMID:31727123|PMID:33314777|PMID:33670882|PMID:9536098 1304589 Snapc2 small nuclear RNA activating complex, polypeptide 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1304589 Snapc2 small nuclear RNA activating complex, polypeptide 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312116 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1304589 Snapc2 small nuclear RNA activating complex, polypeptide 2 gene DOID:630 genetic disease ISO RGD:1312116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304590 Rap1gap2 RAP1 GTPase activating protein 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1346377 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 1304590 Rap1gap2 RAP1 GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1346377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304591 Art1 ADP-ribosyltransferase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1304591 Art1 ADP-ribosyltransferase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312119 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1304591 Art1 ADP-ribosyltransferase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1304591 Art1 ADP-ribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304592 C2cd5 C2 calcium-dependent domain containing 5 gene DOID:630 genetic disease ISO RGD:736134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304593 Ints3 integrator complex subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304593 Ints3 integrator complex subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304593 Ints3 integrator complex subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304593 Ints3 integrator complex subunit 3 gene DOID:10283 prostate cancer ISO RGD:1603299 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304593 Ints3 integrator complex subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603299 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304593 Ints3 integrator complex subunit 3 gene DOID:2661 myoepithelioma ISO RGD:1603299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1304593 Ints3 integrator complex subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304593 Ints3 integrator complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304593 Ints3 integrator complex subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603299 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:7240710 20130221 OMIM 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:16199547|PMID:16537452|PMID:17576681|PMID:19008299|PMID:23757202|PMID:23806237|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259|PMID:33960418|PMID:9536098 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:10283 prostate cancer ISO RGD:1312123 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:1184 nephrotic syndrome ISO RGD:1312123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:19008299|PMID:25741868|PMID:29127259 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:630 genetic disease ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1312123 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 1304595 Tmem268 transmembrane protein 268 gene DOID:630 genetic disease ISO RGD:1312125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304597 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1304597 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:12849 autistic disorder ISO RGD:1312128 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304597 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:630 genetic disease ISO RGD:1312128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304598 Abhd15 abhydrolase domain containing 15 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1304598 Abhd15 abhydrolase domain containing 15 gene DOID:630 genetic disease ISO RGD:1605591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304599 Polrmt RNA polymerase mitochondrial gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312131 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1304599 Polrmt RNA polymerase mitochondrial gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868 1304599 Polrmt RNA polymerase mitochondrial gene DOID:2843 long QT syndrome ISO RGD:1312131 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1304599 Polrmt RNA polymerase mitochondrial gene DOID:5339 cyclic hematopoiesis ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1304599 Polrmt RNA polymerase mitochondrial gene DOID:630 genetic disease ISO RGD:1312131 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304599 Polrmt RNA polymerase mitochondrial gene DOID:9001375 Combined Oxidative Phosphorylation Deficiency 55 ISO RGD:1312131 D RGD:7240710 20220223 OMIM 1304599 Polrmt RNA polymerase mitochondrial gene DOID:9001375 Combined Oxidative Phosphorylation Deficiency 55 ISO RGD:1312131 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 PMID:25741868|PMID:28492532|PMID:33602924 1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1603049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:5419 schizophrenia ISO RGD:1606263 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:630 genetic disease ISO RGD:1606263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606263 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:9007661 Dwarfism ISO RGD:1606263 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease ISO RGD:1312138 D RGD:6771173|PMID:20529956 20171003 RGD mRNA:decreased expression:striatum 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease onset ISO RGD:1312137 D RGD:6770890|PMID:21595933 20171003 RGD DNA:SNPs: :rs6949152, rs7781972 (human) 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1312137 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312137 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:630 genetic disease ISO RGD:1312137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2302400|PMID:18723421 20081216 RGD mRNA, protein:increase expression:cerebral cortex 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:2302404|PMID:17704287 20081217 RGD mRNA:increased expression:hear right ventricle 1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9007170 Bowen's Disease ISO RGD:1312137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 1304604 Senp5 SUMO specific peptidase 5 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1312139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1304604 Senp5 SUMO specific peptidase 5 gene DOID:12849 autistic disorder ISO RGD:1312139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304604 Senp5 SUMO specific peptidase 5 gene DOID:5419 schizophrenia ISO RGD:1312139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304604 Senp5 SUMO specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1312139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:1059 intellectual disability ISO RGD:1602951 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:3068 glioblastoma ISO RGD:1602951 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602951 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:630 genetic disease ISO RGD:1602951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:684 hepatocellular carcinoma ISO RGD:1602951 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:30705370 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602951 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602951 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:1612 breast cancer disease_progression ISO RGD:1312142 D RGD:2325661|PMID:16598187 20100604 RGD 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1312142 D RGD:2325658|PMID:19714807 20200713 RGD protein:increased expression:pancreas 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1312142 D RGD:2325659|PMID:19609859 20100604 RGD mRNA:increased expression:pancreas 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312142 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:630 genetic disease ISO RGD:1312142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:25237833 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1312142 D RGD:2325658|PMID:19714807 20100604 RGD protein:increased expression:pancreas 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:7240710 20230517 OMIM 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea PMID:34952832 1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9008939 Breast Neoplasms ISO RGD:1312142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20531310 1304607 Tmem216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:11067331|PMID:20512146 20161111 RGD DNA:missense mutation:exon:c.218G>T(p.R73L)(human) 1304607 Tmem216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:9536098 1304607 Tmem216 transmembrane protein 216 gene DOID:0050778 Meckel syndrome ISO RGD:1602714 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:11067331|PMID:20512146 20161111 RGD DNA:missense,frameshift,nonsense mutations:cds,splice junction: 1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:7240710 20130221 OMIM 1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 1304607 Tmem216 transmembrane protein 216 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1304607 Tmem216 transmembrane protein 216 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568 1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:11561919|PMID:20036350 20161111 RGD DNA:misense mutation:exon:c.35G>T(p.R12L)(human) 1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:7240710 20130221 OMIM 1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:21068128|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 1304607 Tmem216 transmembrane protein 216 gene DOID:1059 intellectual disability ISO RGD:1602714 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304607 Tmem216 transmembrane protein 216 gene DOID:630 genetic disease ISO RGD:1602714 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 1304607 Tmem216 transmembrane protein 216 gene DOID:9006534 Nervous System Malformations ISO RGD:1602714 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604717 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism 1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:7240710 20190315 OMIM 1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 PMID:17666061|PMID:25741868|PMID:27861123|PMID:30790670|PMID:31737537|PMID:32173957|PMID:33367594 1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:2843 long QT syndrome ISO RGD:1604717 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27861123|PMID:30790670 1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:630 genetic disease ISO RGD:1604717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604717 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304609 Actr6 actin related protein 6 gene DOID:630 genetic disease ISO RGD:1312146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304610 Atg14 autophagy related 14 gene DOID:630 genetic disease ISO RGD:1312148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304611 Zfp496 zinc finger protein 496 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312150 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1304611 Zfp496 zinc finger protein 496 gene DOID:1540 parathyroid carcinoma ISO RGD:1312150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304611 Zfp496 zinc finger protein 496 gene DOID:630 genetic disease ISO RGD:1312150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304611 Zfp496 zinc finger protein 496 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312150 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:10763 hypertension ISO RGD:1312152 D RGD:2314812|PMID:19421330 20091130 RGD 1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312152 D RGD:8554872 20160719 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:630 genetic disease ISO RGD:1312152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 1304613 Alpk1 alpha-kinase 1 gene DOID:11664 nephrosclerosis ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 1304613 Alpk1 alpha-kinase 1 gene DOID:12271 aniridia ISO RGD:1351787 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1304613 Alpk1 alpha-kinase 1 gene DOID:13189 gout ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 1304613 Alpk1 alpha-kinase 1 gene DOID:630 genetic disease ISO RGD:1351787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304613 Alpk1 alpha-kinase 1 gene DOID:9001981 Weight Loss ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 1304613 Alpk1 alpha-kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 1304613 Alpk1 alpha-kinase 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:1351787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:25741868 1304613 Alpk1 alpha-kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:7240710 20201111 OMIM 1304613 Alpk1 alpha-kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME | ClinVar Annotator: match by term: ROSAH syndrome PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845 1304613 Alpk1 alpha-kinase 1 gene DOID:9351 diabetes mellitus ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 1304614 Epha6 Eph receptor A6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1605546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 1304614 Epha6 Eph receptor A6 gene DOID:630 genetic disease ISO RGD:1605546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304615 Clybl citramalyl-CoA lyase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1304615 Clybl citramalyl-CoA lyase gene DOID:14701 propionic acidemia ISO RGD:1312156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1304615 Clybl citramalyl-CoA lyase gene DOID:4621 holoprosencephaly ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1304615 Clybl citramalyl-CoA lyase gene DOID:630 genetic disease ISO RGD:1312156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304615 Clybl citramalyl-CoA lyase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312156 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1304616 Nop2 NOP2 nucleolar protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1312158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1304616 Nop2 NOP2 nucleolar protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1312158 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1304616 Nop2 NOP2 nucleolar protein gene DOID:0111621 Temtamy syndrome ISO RGD:1312158 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1304616 Nop2 NOP2 nucleolar protein gene DOID:630 genetic disease ISO RGD:1312158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304616 Nop2 NOP2 nucleolar protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312158 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1304618 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:7240710 20201223 OMIM 1304618 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 PMID:25741868|PMID:33053334|PMID:33964184 1304618 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:630 genetic disease ISO RGD:1312161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304619 Ago1 argonaute RISC component 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312163 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1304619 Ago1 argonaute RISC component 1 gene DOID:1059 intellectual disability ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 1304619 Ago1 argonaute RISC component 1 gene DOID:1790 malignant mesothelioma ISO RGD:1312163 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1304619 Ago1 argonaute RISC component 1 gene DOID:630 genetic disease ISO RGD:1312163 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304619 Ago1 argonaute RISC component 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:25741868|PMID:30213762|PMID:34930816 1304619 Ago1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:7240710 20230505 OMIM 1304619 Ago1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures PMID:23020937|PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:1540 parathyroid carcinoma ISO RGD:1347519 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:3755 antithrombin III deficiency ISO RGD:1347519 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:630 genetic disease ISO RGD:1347519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:869 cholesteatoma ISO RGD:1347519 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347519 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353651 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1353651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1353651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1353651 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:28492532 1304622 RGD1304622 similar to 6820428L09 protein gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1304622 RGD1304622 similar to 6820428L09 protein gene DOID:1540 parathyroid carcinoma ISO RGD:1605647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304622 RGD1304622 similar to 6820428L09 protein gene DOID:630 genetic disease ISO RGD:1605647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304622 RGD1304622 similar to 6820428L09 protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605647 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1304622 RGD1304622 similar to 6820428L09 protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605647 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304623 Cgnl1 cingulin-like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353387 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1304623 Cgnl1 cingulin-like 1 gene DOID:2717 Bloom syndrome ISO RGD:1353387 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304623 Cgnl1 cingulin-like 1 gene DOID:630 genetic disease ISO RGD:1353387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304623 Cgnl1 cingulin-like 1 gene DOID:9256 colorectal cancer ISO RGD:1353387 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304625 Map3k6 mitogen-activated protein kinase kinase kinase 6 gene DOID:0080600 COVID-19 ISO RGD:1312170 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304625 Map3k6 mitogen-activated protein kinase kinase kinase 6 gene DOID:630 genetic disease ISO RGD:1312170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304626 Ccser2 coiled-coil serine-rich protein 2 gene DOID:630 genetic disease ISO RGD:1312172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304627 Chat choline O-acetyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312173 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:7240710 20130221 OMIM 1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:11172068|PMID:12548525|PMID:12756141|PMID:15381704|PMID:15701560|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19520274|PMID:19900826|PMID:21786365|PMID:21948486|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:26467025|PMID:26789281|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29054425|PMID:29189923|PMID:32368696|PMID:9073174|PMID:9536098 1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 susceptibility ISO RGD:1312173 D RGD:1600831|PMID:11172068 20070328 RGD DNA:frameshift mutation, missense mutations (human) 1304627 Chat choline O-acetyltransferase gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 1304627 Chat choline O-acetyltransferase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1312173 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868 1304627 Chat choline O-acetyltransferase gene DOID:10652 Alzheimer's disease IEP D RGD:1600851|PMID:16834974 20070328 RGD 1304627 Chat choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1312173 D RGD:1358495|PMID:12401548 20151215 RGD DNA:polymorphism:CDS:4G>A (human) 1304627 Chat choline O-acetyltransferase gene DOID:11372 megacolon ISO RGD:1312173 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1304627 Chat choline O-acetyltransferase gene DOID:12858 Huntington's disease ISO RGD:1549990 D RGD:5686805|PMID:16987871 20120126 RGD mRNA:decreased expression:cerebral cortex 1304627 Chat choline O-acetyltransferase gene DOID:13550 angle-closure glaucoma ISO RGD:1312173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 1304627 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder IEP D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 1304627 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder IMP D RGD:151347550|PMID:28420875 20220126 RGD 1304627 Chat choline O-acetyltransferase gene DOID:2841 asthma IEP D RGD:5686690|PMID:17328924 20070328 RGD Protein:decreased expression:lung epithelium 1304627 Chat choline O-acetyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1312173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11172068|PMID:12548525|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696 1304627 Chat choline O-acetyltransferase gene DOID:535 sleep disorder ISO RGD:1312173 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 1304627 Chat choline O-acetyltransferase gene DOID:5419 schizophrenia ISO RGD:1312173 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304627 Chat choline O-acetyltransferase gene DOID:5679 retinal disease ISO RGD:1312173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 1304627 Chat choline O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1312173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1304627 Chat choline O-acetyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:1312173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 1304627 Chat choline O-acetyltransferase gene DOID:9220 central sleep apnea ISO RGD:1312173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Apnea, central sleep PMID:15701560|PMID:25741868|PMID:28492532 1304628 Exog exo/endonuclease G gene DOID:0050451 Brugada syndrome ISO RGD:1312174 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1304628 Exog exo/endonuclease G gene DOID:630 genetic disease ISO RGD:1312174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304628 Exog exo/endonuclease G gene DOID:9001436 Immunodeficiency 68 ISO RGD:1312174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 1304628 Exog exo/endonuclease G gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1312174 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1304629 Acer2 alkaline ceramidase 2 gene DOID:630 genetic disease ISO RGD:1312176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304631 Zfp169 zinc finger protein 169 gene DOID:12642 hiatus hernia ISO RGD:1312178 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 1304631 Zfp169 zinc finger protein 169 gene DOID:630 genetic disease ISO RGD:1312178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304631 Zfp169 zinc finger protein 169 gene DOID:9970 obesity ISO RGD:1312178 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312180 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:630 genetic disease ISO RGD:1312180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1312180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:8445 intestinal volvulus ISO RGD:1312180 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312180 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312180 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:3070 high grade glioma ISO RGD:1312182 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:630 genetic disease ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:31681265|PMID:9536098 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 susceptibility ISO RGD:1312182 D RGD:7240710 20190502 OMIM 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1312182 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1312182 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312184 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:630 genetic disease ISO RGD:1312184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:9007201 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 ISO RGD:1312184 D RGD:7240710 20221123 OMIM 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:9007201 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 ISO RGD:1312184 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: DIPHTHAMIDE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 PMID:25741868|PMID:27421267|PMID:32576952 1304634 Dph2 diphthamide biosynthesis 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32576952 1304635 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312186 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304635 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:630 genetic disease ISO RGD:1312186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304635 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312186 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1304636 Sema4a semaphorin 4A gene DOID:0050572 cone-rod dystrophy ISO RGD:1312188 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:7240710 20130425 OMIM 1304636 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 35 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28805479 1304636 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:7240710 20130221 OMIM 1304636 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479 1304636 Sema4a semaphorin 4A gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1312188 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:25741868 1304636 Sema4a semaphorin 4A gene DOID:0111940 immunodeficiency 42 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:10584 retinitis pigmentosa ISO RGD:1312188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199541|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479 1304636 Sema4a semaphorin 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1312188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:5812 MHC class II deficiency ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:630 genetic disease ISO RGD:1312188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:8501 fundus dystrophy ISO RGD:1312188 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:26103963|PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:9004271 Colonic Polyps ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381|PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312188 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33290778 1304636 Sema4a semaphorin 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312188 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304636 Sema4a semaphorin 4A gene DOID:9256 colorectal cancer ISO RGD:1312188 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25637381|PMID:28492532 1304637 Lto1 LTO1 maturation factor of ABCE1 gene DOID:1059 intellectual disability ISO RGD:1312190 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome 1304637 Lto1 LTO1 maturation factor of ABCE1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1312190 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1304637 Lto1 LTO1 maturation factor of ABCE1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1312190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1304638 Coq4 coenzyme Q4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1304638 Coq4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 1304638 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:7240710 20161109 OMIM 1304638 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:22368301|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28540186|PMID:30659264|PMID:31332438|PMID:31396399|PMID:32056211|PMID:32718099|PMID:32860008|PMID:33206935|PMID:33215859|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 1304638 Coq4 coenzyme Q4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1304638 Coq4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:32056211|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 1304638 Coq4 coenzyme Q4 gene DOID:9006534 Nervous System Malformations ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859 1304638 Coq4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:32056211 1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:13204707|PMID:27063650 20170713 RGD DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human) 1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:7240710 20130221 OMIM 1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders PMID:10395545|PMID:11349135|PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:16358361|PMID:16358631|PMID:16585603|PMID:18845326|PMID:21664875|PMID:23337116|PMID:23372718|PMID:24027040|PMID:24033266|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:26151233|PMID:26608917|PMID:26762768|PMID:27063650|PMID:27612988|PMID:27855655|PMID:27893162|PMID:28039949|PMID:28492532|PMID:28866308|PMID:29146883|PMID:30617623|PMID:30719430|PMID:31589614|PMID:31604460|PMID:32534991|PMID:34630384|PMID:35592332|PMID:7063650 1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312195 D RGD:13204717|PMID:20133615 20170714 RGD DNA:missense mutation: :p.R278H (mouse) 1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312195 D RGD:8694074|PMID:19451691 20140723 RGD DNA:missense mutation: :p.Y288C (mouse) 1304639 Lig4 DNA ligase 4 gene DOID:0060173 Timothy syndrome ISO RGD:1312194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868 1304639 Lig4 DNA ligase 4 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1312194 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 1304639 Lig4 DNA ligase 4 gene DOID:10283 prostate cancer treatment ISO RGD:1312194 D RGD:13204720|PMID:16638864 20170714 RGD 1304639 Lig4 DNA ligase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1312194 D RGD:2317363|PMID:19147782 20100416 RGD associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human) 1304639 Lig4 DNA ligase 4 gene DOID:3070 high grade glioma ISO RGD:1312194 D RGD:13204718|PMID:23663450 20170714 RGD DNA:SNP: :rs1805388 (human) 1304639 Lig4 DNA ligase 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1312194 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868 1304639 Lig4 DNA ligase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1312194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:16585603|PMID:18845326|PMID:26151233|PMID:28492532|PMID:31604460 1304639 Lig4 DNA ligase 4 gene DOID:630 genetic disease ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11779494|PMID:15333585|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:31604460|PMID:35592332 1304639 Lig4 DNA ligase 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312194 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1304639 Lig4 DNA ligase 4 gene DOID:9256 colorectal cancer ISO RGD:1312194 D RGD:8694072|PMID:24282031 20140723 RGD DNA, mRNA:hypermethylation, decreased expression 1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:1600305|PMID:12471202 20070306 RGD DNA:polymorphisms 1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:7240710 20130221 OMIM 1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 1304640 Cpsf6 cleavage and polyadenylation specific factor 6 gene DOID:630 genetic disease ISO RGD:1312196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304641 Stim2 stromal interaction molecule 2 gene DOID:630 genetic disease ISO RGD:1312198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304641 Stim2 stromal interaction molecule 2 gene DOID:9004657 Weight Gain ISO RGD:1312198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1304642 Foxd2 forkhead box D2 gene DOID:630 genetic disease ISO RGD:1312200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304643 Aste1 asteroid homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 1304643 Aste1 asteroid homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 1304643 Aste1 asteroid homolog 1 gene DOID:630 genetic disease ISO RGD:1606299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304643 Aste1 asteroid homolog 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606299 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1304643 Aste1 asteroid homolog 1 gene DOID:9270 alkaptonuria ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1312203 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312203 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:7240710 20200311 OMIM 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive bulbar palsy of childhood PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22718020|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:27702554|PMID:28492532|PMID:29053833|PMID:29501408|PMID:29950502|PMID:33189404|PMID:33325104|PMID:34426522|PMID:34662687 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:7240710 20190320 OMIM 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:16122634|PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23107375|PMID:23688382|PMID:24033266|PMID:24239381|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29950502|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687|PMID:9536098 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:231 motor neuron disease ISO RGD:1312203 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Madras motor neuron disease PMID:25741868|PMID:28492532|PMID:32579787 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312203 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:20729853 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:630 genetic disease ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:681 progressive bulbar palsy ISO RGD:1312203 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism 1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1312203 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312206 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060476 Perlman syndrome ISO RGD:1312206 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:25741868 1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1312206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:9538 multiple myeloma ISO RGD:1312206 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1304647 Snx6 sorting nexin 6 gene DOID:630 genetic disease ISO RGD:1312208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304647 Snx6 sorting nexin 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1304648 Pskh1 protein serine kinase H1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1304648 Pskh1 protein serine kinase H1 gene DOID:630 genetic disease ISO RGD:1312210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:27259055|PMID:29293958 1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:7240710 20190315 OMIM 1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 PMID:12634867|PMID:24033266|PMID:25741868|PMID:27259055|PMID:28492532|PMID:29293958|PMID:32747562 1304649 Cdc14a cell division cycle 14A gene DOID:10003 sensorineural hearing loss ISO RGD:1312211 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1304649 Cdc14a cell division cycle 14A gene DOID:12336 male infertility ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 1304649 Cdc14a cell division cycle 14A gene DOID:14228 oligospermia ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 1304649 Cdc14a cell division cycle 14A gene DOID:630 genetic disease ISO RGD:1312211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304649 Cdc14a cell division cycle 14A gene DOID:9008681 Deafness ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 1304649 Cdc14a cell division cycle 14A gene DOID:9269 maple syrup urine disease ISO RGD:1312211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1304651 Ppp1r13b protein phosphatase 1, regulatory subunit 13B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1304651 Ppp1r13b protein phosphatase 1, regulatory subunit 13B gene DOID:630 genetic disease ISO RGD:1312214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304651 Ppp1r13b protein phosphatase 1, regulatory subunit 13B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1312214 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:7240710 20190315 OMIM 1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CCDC115-CDG PMID:24033266|PMID:25741868|PMID:26833330|PMID:26833332|PMID:28492532|PMID:29759592 1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1603946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:24033266|PMID:25741868|PMID:26833330|PMID:26833332|PMID:29759592 1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:630 genetic disease ISO RGD:1603946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304655 Tmprss7 transmembrane serine protease 7 gene DOID:303 substance-related disorder ISO RGD:1312220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1304655 Tmprss7 transmembrane serine protease 7 gene DOID:630 genetic disease ISO RGD:1312220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304657 Zdhhc6 zinc finger DHHC-type palmitoyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:7240710 20190315 OMIM 1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 5 PMID:25741868|PMID:26188006 1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1312224 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:3312 bipolar disorder ISO RGD:1312224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21926972 1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1312224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:674 cleft palate ISO RGD:1312224 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cleft palate 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1312226 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:7240710 20190315 OMIM 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations PMID:25741868|PMID:28453519|PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:1312226 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312226 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:2661 myoepithelioma ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1312226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312226 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080600 COVID-19 severity ISO RGD:1312228 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080942 anauxetic dysplasia ISO RGD:1312228 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1312228 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:1790 malignant mesothelioma ISO RGD:1312228 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:2773 contact dermatitis ISO RGD:1312228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:2841 asthma ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:19541356|REF_RGD_ID:5130899 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:3310 atopic dermatitis ISO RGD:1312228 D RGD:1626250|PMID:12642842 20070727 RGD 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:630 genetic disease ISO RGD:1312228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1312228 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:9870 galactosemia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1304661 Serpinb13 serpin family B member 13 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312230 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1304661 Serpinb13 serpin family B member 13 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1304661 Serpinb13 serpin family B member 13 gene DOID:10283 prostate cancer ISO RGD:1312230 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1304661 Serpinb13 serpin family B member 13 gene DOID:630 genetic disease ISO RGD:1312230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304662 Pla2g12a phospholipase A2, group XIIA gene DOID:630 genetic disease ISO RGD:1312232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304662 Pla2g12a phospholipase A2, group XIIA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:1059 intellectual disability ISO RGD:1312236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312236 D RGD:11554173 20200407 CTD CTD Direct Evidence: therapeutic PMID:23644492 1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:630 genetic disease ISO RGD:1312236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1312236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 1304665 Pcdhb5 protocadherin beta 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312238 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1304665 Pcdhb5 protocadherin beta 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304665 Pcdhb5 protocadherin beta 5 gene DOID:1826 epilepsy ISO RGD:1312238 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 1304665 Pcdhb5 protocadherin beta 5 gene DOID:630 genetic disease ISO RGD:1312238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304665 Pcdhb5 protocadherin beta 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312238 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304665 Pcdhb5 protocadherin beta 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:12849 autistic disorder ISO RGD:1312242 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:3426 vestibular disease ISS RGD:1621289 D RGD:13592920 20180518 MouseDO 1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:630 genetic disease ISO RGD:1312242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304668 Blmh bleomycin hydrolase gene DOID:0111253 neurofibromatosis 1 ISO RGD:1312244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1304668 Blmh bleomycin hydrolase gene DOID:630 genetic disease ISO RGD:1312244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1312246 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312246 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16501603 1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1312246 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:0050777 Joubert syndrome ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:1059 intellectual disability ISO RGD:1350964 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:630 genetic disease ISO RGD:1350964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304671 Snapc1 small nuclear RNA activating complex, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1312249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304672 Castor2 cytosolic arginine sensor for mTORC1 subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306471 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304675 Plch2 phospholipase C, eta 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304675 Plch2 phospholipase C, eta 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346590 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1304675 Plch2 phospholipase C, eta 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346590 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1304675 Plch2 phospholipase C, eta 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346590 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1304675 Plch2 phospholipase C, eta 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304675 Plch2 phospholipase C, eta 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304675 Plch2 phospholipase C, eta 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304675 Plch2 phospholipase C, eta 2 gene DOID:630 genetic disease ISO RGD:1346590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304675 Plch2 phospholipase C, eta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346590 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304675 Plch2 phospholipase C, eta 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346590 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1304675 Plch2 phospholipase C, eta 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304676 Tollip toll interacting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1304676 Tollip toll interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1304676 Tollip toll interacting protein gene DOID:0080773 delta beta-thalassemia ISO RGD:1312257 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1304676 Tollip toll interacting protein gene DOID:0111969 immunodeficiency 39 ISO RGD:1312257 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1304676 Tollip toll interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1304676 Tollip toll interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312257 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1304676 Tollip toll interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 1304676 Tollip toll interacting protein gene DOID:630 genetic disease ISO RGD:1312257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304676 Tollip toll interacting protein gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1312257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1304677 Pank1 pantothenate kinase 1 gene DOID:630 genetic disease ISO RGD:1312259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304678 Gdf1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:7240710 20130925 OMIM 1304678 Gdf1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257 1304678 Gdf1 growth differentiation factor 1 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1312261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924340 1304678 Gdf1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:7240710 20140903 OMIM 1304678 Gdf1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 1304678 Gdf1 growth differentiation factor 1 gene DOID:0060850 annular pancreas ISS RGD:1312262 D RGD:13592920 20180518 MouseDO OMIM:167750 1304678 Gdf1 growth differentiation factor 1 gene DOID:0060856 right atrial isomerism ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 1304678 Gdf1 growth differentiation factor 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:17576681|PMID:17924340|PMID:19243074|PMID:20413652|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:28991257|PMID:30800706|PMID:9536098 1304678 Gdf1 growth differentiation factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312261 D RGD:11252017|PMID:24275554 20230413 RGD mRNA,protein:increased expression:heart (human) 1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease ISO RGD:1312261 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28991257 1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease ISO RGD:1312261 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532|PMID:28991257 1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:11536909|PMID:26656983 20230412 RGD DNA:SNPs:exon8: (rs4808863) (human) 1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:243065149|PMID:23076529 20230412 RGD DNA:SNPs,haplotypes: (rs7250622,rs4808867, rs4808870) (human) 1304678 Gdf1 growth differentiation factor 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1312261 D RGD:243065147|PMID:36268984 20230412 RGD associated with Stable Angina; protein:decreased expression:blood plasma (human) 1304678 Gdf1 growth differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:25741868|PMID:28492532 1304678 Gdf1 growth differentiation factor 1 gene DOID:6406 double outlet right ventricle ISO RGD:1312261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924340 1304678 Gdf1 growth differentiation factor 1 gene DOID:6406 double outlet right ventricle ISO RGD:1312261 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340 1304678 Gdf1 growth differentiation factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1312261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924340 1304678 Gdf1 growth differentiation factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1312261 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 1304678 Gdf1 growth differentiation factor 1 gene DOID:758 situs inversus ISO RGD:1312261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340 1304678 Gdf1 growth differentiation factor 1 gene DOID:9003936 Cardiomegaly exacerbates ISO RGD:1312262 D RGD:11252017|PMID:24275554 20230413 RGD 1304678 Gdf1 growth differentiation factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1312261 D RGD:11252030|PMID:25726944 20230405 RGD protein:increased expression:Left ventricle (human) 1304678 Gdf1 growth differentiation factor 1 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1312262 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 1304678 Gdf1 growth differentiation factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1312261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1312263 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:1312263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:8552 chronic myeloid leukemia ISS RGD:1312264 D RGD:13592920 20180518 MouseDO OMIM:608232 1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312263 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304680 Epha1 Eph receptor A1 gene DOID:10652 Alzheimer's disease ISO RGD:1312265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 1304680 Epha1 Eph receptor A1 gene DOID:630 genetic disease ISO RGD:1312265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304680 Epha1 Eph receptor A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19277044 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1606493 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:10923 sickle cell anemia ISO RGD:1606493 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1606493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1606493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1606493 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606493 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1606493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:630 genetic disease ISO RGD:1606493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:8445 intestinal volvulus ISO RGD:1606493 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606493 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304681 Abhd11 abhydrolase domain containing 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606493 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:2340 craniosynostosis ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:4450 renal cell carcinoma ISO RGD:1312269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:630 genetic disease ISO RGD:1312269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29861105|PMID:34440880 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9006836 Contracture ISO RGD:1312269 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:7240710 20190315 OMIM 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness PMID:25741868|PMID:28492532|PMID:28540413|PMID:29861105|PMID:34440880 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1312269 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Global developmental delay 1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9269 maple syrup urine disease ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:8554872 20170124 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:7240710 20170405 OMIM 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1G PMID:11095744|PMID:22190596|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:7240710 20130221 OMIM 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 PMID:11095744|PMID:17584859|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247|PMID:8673138 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:630 genetic disease ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:8499 night blindness ISO RGD:1312271 D RGD:1599006|PMID:8673138 20070111 RGD 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:8501 fundus dystrophy ISO RGD:1312271 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312271 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1600001|PMID:15939031 20081121 RGD protein:decreased expression:retina 1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:14701 propionic acidemia ISO RGD:1312273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1312273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312273 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 1304685 Klhl8 kelch-like family member 8 gene DOID:630 genetic disease ISO RGD:1312275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304685 Klhl8 kelch-like family member 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312275 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1601944 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1601944 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1059 intellectual disability ISO RGD:1601944 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1909 melanoma ISO RGD:1601944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:2746 glycogen storage disease V ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:630 genetic disease ISO RGD:1601944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1601944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:7240710 20190911 OMIM 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 PMID:25741868|PMID:28492532|PMID:31079898|PMID:33544954 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1602194 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:630 genetic disease ISO RGD:1602194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602194 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602194 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602194 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1604571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:1856 cherubism ISO RGD:1604571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:630 genetic disease ISO RGD:1604571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1312280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1312280 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1312280 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:10907 microcephaly ISO RGD:1312280 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:12849 autistic disorder ISO RGD:1312280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:1932 Angelman syndrome ISO RGD:1312280 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:5419 schizophrenia ISO RGD:1312280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:630 genetic disease ISO RGD:1312280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304689 Tubgcp5 tubulin, gamma complex associated protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312280 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1304690 Eml4 EMAP like 4 gene DOID:3883 Lynch syndrome ISO RGD:1351948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1304690 Eml4 EMAP like 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231 1304690 Eml4 EMAP like 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1351948 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22980554|PMID:22999080 1304690 Eml4 EMAP like 4 gene DOID:630 genetic disease ISO RGD:1351948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304690 Eml4 EMAP like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 1304690 Eml4 EMAP like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351948 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304690 Eml4 EMAP like 4 gene DOID:9007502 Brain Neoplasms ISO RGD:1351948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986231 1304691 Rabgap1 RAB GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1312283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304692 Pus7l pseudouridine synthase 7 like gene DOID:630 genetic disease ISO RGD:1606495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304693 Mms22l MMS22-like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304694 RGD1304694 similar to CG9646-PA gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312287 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1304694 RGD1304694 similar to CG9646-PA gene DOID:0080600 COVID-19 ISO RGD:1312287 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304694 RGD1304694 similar to CG9646-PA gene DOID:1059 intellectual disability ISO RGD:1312287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304694 RGD1304694 similar to CG9646-PA gene DOID:630 genetic disease ISO RGD:1312287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1312289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080001 bone disease ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228435 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:11553863|PMID:18513683 20161014 RGD DNA:deletion:cds:c.483_491del9 (human) 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:7240710 20130221 OMIM 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:17576681|PMID:18513683|PMID:18985159|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:9536098 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:1059 intellectual disability ISO RGD:1312289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:11830 myopia ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312289 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:11553861|PMID:18985159 20161014 RGD DNA:missense mutation:cds:p.G74D (human) 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1551989 D RGD:11553861|PMID:18985159 20161014 RGD 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:3144 cutis laxa ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:419 scleroderma ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Scleroderma PMID:25741868|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:630 genetic disease ISO RGD:1312289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:11553884|PMID:25767260 20161017 RGD protein:increased expression:liver, endoplasmic reticulum (rat) 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9003358 Kyphosis ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9003921 Zinc Deficiency IEP D RGD:11553849|PMID:20859692 20161128 RGD mRNA:increased expression:lung, kidney (rat) 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9009007 Tooth Abnormalities ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435 1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:988 mitral valve prolapse ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:0050778 Meckel syndrome ISO RGD:1312290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:27894351|PMID:29209597|PMID:31411728 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:630 genetic disease ISO RGD:1312290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:7240710 20220518 OMIM 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Meckel syndrome 14 PMID:25741868|PMID:27894351|PMID:31411728 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312290 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304697 Actl7a actin-like 7a gene DOID:12336 male infertility ISO RGD:1312292 D RGD:13831339|PMID:26957350 20181227 RGD 1304697 Actl7a actin-like 7a gene DOID:4006 bladder urothelial carcinoma ISO RGD:1312292 D RGD:13831338|PMID:29058301 20181227 RGD 1304697 Actl7a actin-like 7a gene DOID:630 genetic disease ISO RGD:1312292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304698 Srprb SRP receptor subunit beta gene DOID:630 genetic disease ISO RGD:1312294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304698 Srprb SRP receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312294 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1304699 Naxe NAD(P)HX epimerase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1304699 Naxe NAD(P)HX epimerase gene DOID:0111940 immunodeficiency 42 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:1540 parathyroid carcinoma ISO RGD:1312295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:5812 MHC class II deficiency ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:630 genetic disease ISO RGD:1312295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:9006901 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 1304699 Naxe NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:7240710 20190315 OMIM 1304699 Naxe NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 1304699 Naxe NAD(P)HX epimerase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312295 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304699 Naxe NAD(P)HX epimerase gene DOID:936 brain disease ISO RGD:1312295 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:27122014 1304700 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1312297 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1304700 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1312297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304700 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312297 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1304701 Prmt6 protein arginine methyltransferase 6 gene DOID:12849 autistic disorder ISO RGD:1312299 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304701 Prmt6 protein arginine methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304701 Prmt6 protein arginine methyltransferase 6 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1312299 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27506785 1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1602008 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602008 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1602008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602008 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:0080600 COVID-19 ISO RGD:1312303 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:1520 colon carcinoma ISO RGD:1312303 D RGD:2317311|PMID:11104810 20100326 RGD 1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:5419 schizophrenia ISO RGD:1312303 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:630 genetic disease ISO RGD:1312303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:6785 desmoplastic small round cell tumor ISO RGD:1312303 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Desmoplastic small round cell tumor PMID:26822237 1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:9538 multiple myeloma ISO RGD:1312303 D RGD:2317306|PMID:15692072 20100326 RGD 1304704 Rtraf RNA transcription, translation and transport factor gene DOID:630 genetic disease ISO RGD:1312305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304706 Tmem147 transmembrane protein 147 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1607077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1304706 Tmem147 transmembrane protein 147 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1607077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1304706 Tmem147 transmembrane protein 147 gene DOID:1059 intellectual disability ISO RGD:1607077 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36044892 1304706 Tmem147 transmembrane protein 147 gene DOID:543 dystonia ISO RGD:1607077 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1304706 Tmem147 transmembrane protein 147 gene DOID:630 genetic disease ISO RGD:1607077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304706 Tmem147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:7240710 20221102 OMIM 1304706 Tmem147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly PMID:25741868|PMID:36044892 1304707 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1304707 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1312309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304707 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1304708 Dapk2 death-associated protein kinase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1312311 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:28978663 1304708 Dapk2 death-associated protein kinase 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312311 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1304708 Dapk2 death-associated protein kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1312311 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304708 Dapk2 death-associated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304708 Dapk2 death-associated protein kinase 2 gene DOID:9005369 Hepatomegaly ISO RGD:1312311 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1304708 Dapk2 death-associated protein kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1312311 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304709 Car8 carbonic anhydrase 8 gene DOID:0050834 CHARGE syndrome ISO RGD:1312313 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 1304709 Car8 carbonic anhydrase 8 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISS RGD:1312314 D RGD:13592920 20180518 MouseDO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 1304709 Car8 carbonic anhydrase 8 gene DOID:1059 intellectual disability ISO RGD:1312313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1304709 Car8 carbonic anhydrase 8 gene DOID:630 genetic disease ISO RGD:1312313 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1304709 Car8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:7240710 20130221 OMIM 1304709 Car8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 PMID:19461874|PMID:21937992|PMID:25741868 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:10908 hydrocephalus ISO RGD:1312315 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus PMID:25741868 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1312315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:630 genetic disease ISO RGD:1312315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:7240710 20190315 OMIM 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9008582 Developmental Disease ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312315 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 1304711 Ints10 integrator complex subunit 10 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1602701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1304711 Ints10 integrator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0050857 Perrault syndrome ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:28449065 1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:7240710 20190315 OMIM 1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 6 PMID:25741868|PMID:28449065 1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1312320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:630 genetic disease ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:9004538 Hearing Loss ISO RGD:1312320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment 1304715 Rcsd1 RCSD domain containing 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1603598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1304715 Rcsd1 RCSD domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603598 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304715 Rcsd1 RCSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1603598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304715 Rcsd1 RCSD domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304715 Rcsd1 RCSD domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603598 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:7240710 20150218 OMIM 1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 PMID:15981765|PMID:16199547|PMID:18414213|PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532 1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:1059 intellectual disability ISO RGD:1312323 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:630 genetic disease ISO RGD:1312323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1312323 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1304717 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:0080600 COVID-19 ISO RGD:1602051 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1304717 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:5419 schizophrenia ISO RGD:1602051 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304717 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1602051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25175347|PMID:25741868|PMID:28492532 1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:630 genetic disease ISO RGD:1312327 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312327 D RGD:7240710 20201111 OMIM 1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:28492532|PMID:29577824|PMID:30724636 1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25175347|PMID:25741868|PMID:28492532 1304722 Cadm4 cell adhesion molecule 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1304722 Cadm4 cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1312331 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304722 Cadm4 cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1312331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304723 Them4 thioesterase superfamily member 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304723 Them4 thioesterase superfamily member 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304723 Them4 thioesterase superfamily member 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304723 Them4 thioesterase superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603281 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304723 Them4 thioesterase superfamily member 4 gene DOID:5812 MHC class II deficiency ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304723 Them4 thioesterase superfamily member 4 gene DOID:630 genetic disease ISO RGD:1603281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304723 Them4 thioesterase superfamily member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1603281 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23392203 1304723 Them4 thioesterase superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603281 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304724 Sox21 SRY-box transcription factor 21 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312334 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1304724 Sox21 SRY-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1312334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304724 Sox21 SRY-box transcription factor 21 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312334 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1304725 Dnajb1 DnaJ heat shock protein family (Hsp40) member B1 gene DOID:630 genetic disease ISO RGD:1312336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0050567 orofacial cleft ISO RGD:1313743 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Facial cleft PMID:25741868 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:7240710 20190315 OMIM 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 5 PMID:22426308|PMID:23906836|PMID:25741868|PMID:28492532 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1313743 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35681054 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:151708704|PMID:29409008 20220414 RGD DNA:multiple:multiple (human) 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23377182 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:7240710 20230505 OMIM 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:16199547|PMID:17576681|PMID:22426308|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:630 genetic disease ISO RGD:1313743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23377182|PMID:25169753|PMID:25741868|PMID:28166811|PMID:28492532 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:23377182|PMID:25169753|PMID:25741868|PMID:28492532|PMID:29625052 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 1304726 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 1304727 Mtf2 metal response element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:1605093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1605106 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1605106 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:630 genetic disease ISO RGD:1605106 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29138412 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:7240710 20190315 OMIM 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome XV PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:9536098 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:7240710 20210825 OMIM 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 38 PMID:25741868|PMID:28220259|PMID:28492532 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:7240710 20210825 OMIM 1304728 RGD1304728 similar to 4933427D14Rik protein gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34016807|PMID:34523780 1304729 Sfn stratifin gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1312341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1304729 Sfn stratifin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1312341 D RGD:2299928|PMID:17645415 20080821 RGD protein:increased expression:urothelium (human) 1304729 Sfn stratifin gene DOID:1749 squamous cell carcinoma ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 1304729 Sfn stratifin gene DOID:2101 vulva squamous cell carcinoma ISO RGD:1312341 D RGD:2299936|PMID:11896620 20080821 RGD DNA, mRNA:hypermethylation, decreased expression:vulva 1304729 Sfn stratifin gene DOID:2394 ovarian cancer ISO RGD:1312341 D RGD:2299930|PMID:16773180 20080821 RGD mRNA:increased expression:ovary 1304729 Sfn stratifin gene DOID:2394 ovarian cancer disease_progression ISO RGD:1312341 D RGD:2299933|PMID:15102672 20080821 RGD 1304729 Sfn stratifin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1312341 D RGD:2299929|PMID:16964403 20080821 RGD DNA:hypermethylation:promoter 1304729 Sfn stratifin gene DOID:2871 endometrial carcinoma ISO RGD:1312341 D RGD:2299931|PMID:16271083 20080821 RGD 1304729 Sfn stratifin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312341 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1304729 Sfn stratifin gene DOID:3910 lung adenocarcinoma ISO RGD:1312341 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 1304729 Sfn stratifin gene DOID:630 genetic disease ISO RGD:1312341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304729 Sfn stratifin gene DOID:684 hepatocellular carcinoma ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1304729 Sfn stratifin gene DOID:8719 in situ carcinoma ISO RGD:1312341 D RGD:2299936|PMID:11896620 20080821 RGD mRNA:decreased expression:vulva 1304729 Sfn stratifin gene DOID:9000058 Keloid ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1304729 Sfn stratifin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 1304729 Sfn stratifin gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 1304729 Sfn stratifin gene DOID:9007364 Mouth Neoplasms ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 1304730 Dcaf10 DDB1 and CUL4 associated factor 10 gene DOID:630 genetic disease ISO RGD:1352348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304733 Ep400 E1A binding protein p400 gene DOID:630 genetic disease ISO RGD:1312347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304733 Ep400 E1A binding protein p400 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312347 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304733 Ep400 E1A binding protein p400 gene DOID:9256 colorectal cancer ISO RGD:1312347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1304734 Elmo3 engulfment and cell motility 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1304734 Elmo3 engulfment and cell motility 3 gene DOID:630 genetic disease ISO RGD:1312348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:35476666 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345883 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1345883 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:1059 intellectual disability ISO RGD:1345883 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:14227 azoospermia ISO RGD:1345883 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:630 genetic disease ISO RGD:1345883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:7240710 20220518 OMIM 1304735 Mov10l1 Mov10 like RISC complex RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 73 PMID:25741868|PMID:35476666 1304736 Fndc3a fibronectin type III domain containing 3a gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354235 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1304736 Fndc3a fibronectin type III domain containing 3a gene DOID:1059 intellectual disability ISO RGD:1354235 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304736 Fndc3a fibronectin type III domain containing 3a gene DOID:630 genetic disease ISO RGD:1354235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304737 Zfr2 zinc finger RNA binding protein 2 gene DOID:13938 amenorrhea ISO RGD:1312353 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1304737 Zfr2 zinc finger RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1312353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304737 Zfr2 zinc finger RNA binding protein 2 gene DOID:9970 obesity ISO RGD:1312353 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 1304738 Ube4b ubiquitination factor E4B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1304738 Ube4b ubiquitination factor E4B gene DOID:0060224 atrial fibrillation ISO RGD:1312355 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1304738 Ube4b ubiquitination factor E4B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312355 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1304738 Ube4b ubiquitination factor E4B gene DOID:0081292 traumatic brain injury ISO RGD:1312355 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499 1304738 Ube4b ubiquitination factor E4B gene DOID:0111936 immunodeficiency 14 ISO RGD:1312355 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1304738 Ube4b ubiquitination factor E4B gene DOID:630 genetic disease ISO RGD:1312355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304738 Ube4b ubiquitination factor E4B gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1312355 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499 1304738 Ube4b ubiquitination factor E4B gene DOID:9002498 Wallerian Degeneration ISO RGD:1312355 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499 1304738 Ube4b ubiquitination factor E4B gene DOID:9008582 Developmental Disease ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1304739 Exosc3 exosome component 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1304739 Exosc3 exosome component 3 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1312357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25741868|PMID:25809939|PMID:28492532|PMID:33462000|PMID:36004024 1304739 Exosc3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:7240710 20140911 OMIM 1304739 Exosc3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:18414213|PMID:22544365|PMID:23284067|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24033266|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27146152|PMID:27777260|PMID:28053271|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30221345|PMID:30986545|PMID:33462000|PMID:36004024 1304739 Exosc3 exosome component 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312357 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1304739 Exosc3 exosome component 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:22544365|PMID:23883322|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30221345 1304739 Exosc3 exosome component 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1304739 Exosc3 exosome component 3 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1312357 D RGD:11554173 20190723 CTD CTD Direct Evidence: marker/mechanism PMID:22544365 1304739 Exosc3 exosome component 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312357 D RGD:151893464|PMID:29069277 20220420 RGD mRNA:altered expression:stomach, tumor (human) 1304739 Exosc3 exosome component 3 gene DOID:630 genetic disease ISO RGD:1312357 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 1304739 Exosc3 exosome component 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312357 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 1304739 Exosc3 exosome component 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1312357 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 1304739 Exosc3 exosome component 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1304739 Exosc3 exosome component 3 gene DOID:9870 galactosemia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1304740 Tspan9 tetraspanin 9 gene DOID:630 genetic disease ISO RGD:1602896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304740 Tspan9 tetraspanin 9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602896 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1304743 Ust uronyl-2-sulfotransferase gene DOID:0060224 atrial fibrillation ISO RGD:1312363 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1304743 Ust uronyl-2-sulfotransferase gene DOID:289 endometriosis ISO RGD:1312363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1304743 Ust uronyl-2-sulfotransferase gene DOID:630 genetic disease ISO RGD:1312363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304744 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:7240710 20150527 OMIM 1304744 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:15703195|PMID:16582076|PMID:17525286|PMID:20486178|PMID:24033266|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30899265 1304744 Stx11 syntaxin 11 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312365 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:15703195 1304744 Stx11 syntaxin 11 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312365 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24524345|PMID:25741868|PMID:28492532 1304744 Stx11 syntaxin 11 gene DOID:630 genetic disease ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304744 Stx11 syntaxin 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1304744 Stx11 syntaxin 11 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1312365 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:20486178|PMID:24033266|PMID:25741868|PMID:28492532 1304747 Adcy9 adenylate cyclase 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304747 Adcy9 adenylate cyclase 9 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1312370 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1304747 Adcy9 adenylate cyclase 9 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1312370 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1304747 Adcy9 adenylate cyclase 9 gene DOID:1682 congenital heart disease ISO RGD:1312370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1304747 Adcy9 adenylate cyclase 9 gene DOID:1826 epilepsy ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304747 Adcy9 adenylate cyclase 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312370 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304747 Adcy9 adenylate cyclase 9 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1304747 Adcy9 adenylate cyclase 9 gene DOID:3324 mood disorder no_association ISO RGD:1312370 D RGD:1358365|PMID:11840511 19990101 RGD DNA:polymorphisms:repeat,cds: 1304747 Adcy9 adenylate cyclase 9 gene DOID:630 genetic disease ISO RGD:1312370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304747 Adcy9 adenylate cyclase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312370 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:0110878 holoprosencephaly 5 ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:14701 propionic acidemia ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:19157943|PMID:22033733|PMID:28492532 1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:4621 holoprosencephaly ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:630 genetic disease ISO RGD:2299985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2299985 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1304749 Lrp6 LDL receptor related protein 6 gene DOID:0050567 orofacial cleft ISO RGD:1312373 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:22813217|PMID:23806086|PMID:26963285 1304749 Lrp6 LDL receptor related protein 6 gene DOID:0050591 tooth agenesis ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis PMID:22813217|PMID:23033978|PMID:25741868|PMID:26963285|PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:0050770 polycystic liver disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:0080074 neural tube defect ISS RGD:1312374 D RGD:13592920 20180518 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 1304749 Lrp6 LDL receptor related protein 6 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:10126 keratoconus ISO RGD:1312373 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 1304749 Lrp6 LDL receptor related protein 6 gene DOID:10283 prostate cancer ISO RGD:1312373 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304749 Lrp6 LDL receptor related protein 6 gene DOID:3393 coronary artery disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:630 genetic disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312373 D RGD:2298724|PMID:12660824 20080718 RGD 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312374 D RGD:4110127|PMID:18006602 20100817 RGD 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:7240710 20130221 OMIM 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 PMID:17332414|PMID:23703864|PMID:25741868|PMID:28492532 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1312373 D RGD:2298725|PMID:17332414 20080718 RGD DNA:missense mutation:cds 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1312373 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24552774 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9007661 Dwarfism ISO RGD:1312373 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:7240710 20160120 OMIM 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 7 PMID:22813217|PMID:23033978|PMID:25741868|PMID:26387593|PMID:26963285|PMID:28492532|PMID:34306029 1304749 Lrp6 LDL receptor related protein 6 gene DOID:9452 fatty liver disease ISS RGD:1312374 D RGD:13592920 20180518 MouseDO OMIM:228100 1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604352 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:630 genetic disease ISO RGD:1604352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:7240710 20220323 OMIM 1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:8554872 20220329 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis PMID:34037727 1304753 Pcdh17 protocadherin 17 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312379 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1304753 Pcdh17 protocadherin 17 gene DOID:630 genetic disease ISO RGD:1312379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:630 genetic disease ISO RGD:1312380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1312380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312380 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:9270 alkaptonuria ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0080600 COVID-19 ISO RGD:1312382 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:3347 osteosarcoma ISO RGD:1312382 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22021909 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:630 genetic disease ISO RGD:1312382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304756 Fank1 fibronectin type III and ankyrin repeat domains 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1312384 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1304756 Fank1 fibronectin type III and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1312384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304757 Elac1 elaC ribonuclease Z 1 gene DOID:1059 intellectual disability ISO RGD:1312386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304757 Elac1 elaC ribonuclease Z 1 gene DOID:630 genetic disease ISO RGD:1312386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304758 Tmub2 transmembrane and ubiquitin-like domain containing 2 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604292 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 1304758 Tmub2 transmembrane and ubiquitin-like domain containing 2 gene DOID:630 genetic disease ISO RGD:1604292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304759 Palb2 partner and localizer of BRCA2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605949 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 1304759 Palb2 partner and localizer of BRCA2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1605949 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:7240710 20230517 OMIM 1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17924555|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28664506|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30521987|PMID:30541756|PMID:30665703|PMID:30680046|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31636395|PMID:31642931|PMID:31742824|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:32019277|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33169439|PMID:33193564|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35089076|PMID:35263119|PMID:35806449|PMID:36988593 1304759 Palb2 partner and localizer of BRCA2 gene DOID:10534 stomach cancer ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:19264984|PMID:19763884|PMID:20412113|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21618343|PMID:22692731|PMID:23561644|PMID:23935381|PMID:23935836|PMID:24033266|PMID:24136930|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24763289|PMID:24870022|PMID:25099575|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26845104|PMID:27553368|PMID:27624329|PMID:27783279|PMID:27798748|PMID:28152038|PMID:28194609|PMID:28413668|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28724667|PMID:28779002|PMID:29093764|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29566657|PMID:29752822|PMID:29915322|PMID:29945567|PMID:30067863|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30377213|PMID:30792206|PMID:30982232|PMID:31089269|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31619740|PMID:31786208|PMID:31841383|PMID:31844177|PMID:32339256|PMID:32427313|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33169439|PMID:33471991|PMID:36988593 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1324 lung cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26023681|PMID:28492532|PMID:29625052|PMID:29785153|PMID:31159747|PMID:31447099|PMID:31619740 1304759 Palb2 partner and localizer of BRCA2 gene DOID:13636 Fanconi anemia ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26564480|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:7240710 20230517 OMIM 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32068069|PMID:32295079|PMID:32339256|PMID:32566746|PMID:32832836|PMID:32854451|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:7240710 20230517 OMIM 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27624329|PMID:27783279|PMID:27829436|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:30890586|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32295079|PMID:32339256|PMID:32566746|PMID:33139182|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:29052111|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29478780|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33674644|PMID:33917078|PMID:34113003|PMID:35263119|PMID:36988593 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1605949 D RGD:2325776|PMID:19264984 20100609 RGD DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human) 1304759 Palb2 partner and localizer of BRCA2 gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:1605949 D RGD:8554872 20181211 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:25741868 1304759 Palb2 partner and localizer of BRCA2 gene DOID:2394 ovarian cancer ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19333784|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23448497|PMID:23824750|PMID:23935836|PMID:24033266|PMID:24206657|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26283626|PMID:26467025|PMID:26689913|PMID:27616075|PMID:27930734|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28873162|PMID:29052111|PMID:29387807|PMID:29522266|PMID:30287823|PMID:31159747|PMID:31422574|PMID:31636395|PMID:31757951|PMID:32658311|PMID:32659497|PMID:33139182|PMID:33195396|PMID:33309985|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:2513 basal cell carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27878467|PMID:28135048|PMID:28423363|PMID:28492532|PMID:28779002|PMID:32339256|PMID:32566746 1304759 Palb2 partner and localizer of BRCA2 gene DOID:2871 endometrial carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:17200668|PMID:20091115|PMID:21285249|PMID:21365267|PMID:22241545|PMID:22692731|PMID:25186627|PMID:25356972|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26692951|PMID:26898890|PMID:28440294|PMID:28492532|PMID:28580595|PMID:28767289|PMID:28779002|PMID:30287823|PMID:31636395|PMID:32068069|PMID:32566746|PMID:32659497|PMID:33113089|PMID:33471991|PMID:33588785 1304759 Palb2 partner and localizer of BRCA2 gene DOID:3302 chordoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chordoma PMID:25741868|PMID:26283626|PMID:26315354|PMID:27106063|PMID:27443514|PMID:28492532|PMID:28779002|PMID:29522266|PMID:30303537|PMID:30680046|PMID:31636395|PMID:32546565|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:3459 breast carcinoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:18987736|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21365267|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935836|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26878173|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32658311|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33674644|PMID:33964450 1304759 Palb2 partner and localizer of BRCA2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605949 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:4001 ovarian carcinoma ISO RGD:1605949 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:25741868 1304759 Palb2 partner and localizer of BRCA2 gene DOID:4606 bile duct cancer ISO RGD:1605949 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823 1304759 Palb2 partner and localizer of BRCA2 gene DOID:4851 pilocytic astrocytoma ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:26283626|PMID:28492532|PMID:28664506|PMID:32546565 1304759 Palb2 partner and localizer of BRCA2 gene DOID:4905 pancreatic carcinoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:17200668|PMID:17200671|PMID:17200672|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:21165770|PMID:21285249|PMID:21365267|PMID:24061862|PMID:24136930|PMID:24415441|PMID:25099575|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:27038244|PMID:27099641|PMID:27106063|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33674644 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35806449|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:36988593|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:5889 anaplastic ependymoma ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:21285249|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27616075|PMID:28492532|PMID:28678401|PMID:31636395|PMID:33471991 1304759 Palb2 partner and localizer of BRCA2 gene DOID:630 genetic disease ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:6741 bilateral breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:20852946|PMID:22692731|PMID:24448499|PMID:24556926|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26898890|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28944238|PMID:29522266|PMID:30306255|PMID:31206626|PMID:31451522|PMID:31512090|PMID:31757951|PMID:32658311|PMID:33195396|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33980423 1304759 Palb2 partner and localizer of BRCA2 gene DOID:768 retinoblastoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:23555315|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32832836|PMID:32868316 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:24763289|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27433846|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605949 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9004268 Uterine Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasm of uterus PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27553368|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:25575445|PMID:25741868|PMID:26328243|PMID:26467025|PMID:28492532|PMID:31757951|PMID:33471991|PMID:35263119 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30447919|PMID:30521987|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31263054|PMID:31300551|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32521533|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33811135|PMID:33910496|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34196900|PMID:34284872|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:36988593|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825726 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29945567|PMID:30322717|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32339256|PMID:32566746 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30720863|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564|PMID:36988593 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26845227|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31060593|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33718150|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:36988593|PMID:7200671|PMID:9536098 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17420451|PMID:19264984|PMID:23341105|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:17420451|PMID:19264984|PMID:23341105|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 1304759 Palb2 partner and localizer of BRCA2 gene DOID:9460 uterine corpus cancer ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 1304760 Pi16 peptidase inhibitor 16 gene DOID:0050553 JMP syndrome ISO RGD:1312389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1304760 Pi16 peptidase inhibitor 16 gene DOID:630 genetic disease ISO RGD:1312389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304762 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 1304762 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 1304762 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1604340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1304762 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304763 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:0050724 PSPH deficiency ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 1304763 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:12849 autistic disorder ISO RGD:1312394 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304763 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312394 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304763 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:630 genetic disease ISO RGD:1312394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1312396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:1059 intellectual disability ISO RGD:1312396 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:12704 ataxia telangiectasia ISO RGD:1312396 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:3905 lung carcinoma ISO RGD:1312396 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11996789|PMID:9765152 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:630 genetic disease ISO RGD:1312396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312396 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:9005172 Lung Neoplasms ISO RGD:1312396 D RGD:7240710 20130221 OMIM 1304764 Ppp2r1b protein phosphatase 2 scaffold subunit A beta gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1304765 Ano6 anoctamin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1312398 D RGD:9684849|PMID:23308121 20141209 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs17095830(human) 1304765 Ano6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:7240710 20130221 OMIM 1304765 Ano6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCOTT SYNDROME PMID:16199547|PMID:21107324|PMID:21511967|PMID:25741868|PMID:27879994|PMID:28492532|PMID:7989579 1304765 Ano6 anoctamin 6 gene DOID:630 genetic disease ISO RGD:1312398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304765 Ano6 anoctamin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1312398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138694 1304765 Ano6 anoctamin 6 gene DOID:7147 ankylosing spondylitis severity ISO RGD:1312398 D RGD:9684849|PMID:23308121 20160617 RGD DNA:SNP: :rs17095830(human) 1304765 Ano6 anoctamin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304766 Arhgef19 Rho guanine nucleotide exchange factor 19 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1304766 Arhgef19 Rho guanine nucleotide exchange factor 19 gene DOID:0110229 cataract 6 multiple types ISO RGD:1312400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 6 multiple types PMID:19649315|PMID:22167091|PMID:25148791|PMID:28492532 1304766 Arhgef19 Rho guanine nucleotide exchange factor 19 gene DOID:630 genetic disease ISO RGD:1312400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304767 Tktl2 transketolase-like 2 gene DOID:630 genetic disease ISO RGD:1604771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304770 Mfsd4b2 major facilitator superfamily domain containing 4B2 gene DOID:630 genetic disease ISO RGD:1321427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1312407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:1059 intellectual disability ISO RGD:1312407 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312407 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:630 genetic disease ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:31474762|PMID:32461654 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312407 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1312407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:25741868 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312407 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:7240710 20200115 OMIM 1304771 Cnot3 CCR4-NOT transcription complex, subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies PMID:25741868|PMID:28492532|PMID:31201375|PMID:32720325 1304772 Tex9 testis expressed 9 gene DOID:2717 Bloom syndrome ISO RGD:1606392 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304772 Tex9 testis expressed 9 gene DOID:630 genetic disease ISO RGD:1606392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304772 Tex9 testis expressed 9 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1606392 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 1304772 Tex9 testis expressed 9 gene DOID:9256 colorectal cancer ISO RGD:1606392 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304773 Cop1 COP1, E3 ubiquitin ligase gene DOID:12849 autistic disorder ISO RGD:1346229 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 1304773 Cop1 COP1, E3 ubiquitin ligase gene DOID:1540 parathyroid carcinoma ISO RGD:1346229 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304773 Cop1 COP1, E3 ubiquitin ligase gene DOID:3755 antithrombin III deficiency ISO RGD:1346229 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1304773 Cop1 COP1, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1346229 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304773 Cop1 COP1, E3 ubiquitin ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346229 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1304773 Cop1 COP1, E3 ubiquitin ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346229 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304774 Castor1 cytosolic arginine sensor for mTORC1 subunit 1 gene DOID:630 genetic disease ISO RGD:2306475 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304775 Ccdc150 coiled-coil domain containing 150 gene DOID:630 genetic disease ISO RGD:1606406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304775 Ccdc150 coiled-coil domain containing 150 gene DOID:684 hepatocellular carcinoma ISO RGD:1606406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1304775 Ccdc150 coiled-coil domain containing 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606406 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304776 Xirp1 xin actin-binding repeat containing 1 gene DOID:10907 microcephaly ISO RGD:1312413 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Classical primary microcephaly PMID:25558065|PMID:25741868 1304776 Xirp1 xin actin-binding repeat containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:1312414 D RGD:13592920 20180518 MouseDO 1304776 Xirp1 xin actin-binding repeat containing 1 gene DOID:630 genetic disease ISO RGD:1312413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304776 Xirp1 xin actin-binding repeat containing 1 gene DOID:9000046 Poisoning ISO RGD:1312413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 1304777 Nrip3 nuclear receptor interacting protein 3 gene DOID:630 genetic disease ISO RGD:1312415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304778 Cercam cerebral endothelial cell adhesion molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1304778 Cercam cerebral endothelial cell adhesion molecule gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1304778 Cercam cerebral endothelial cell adhesion molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1304778 Cercam cerebral endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1312417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604054 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604054 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604054 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:0111621 Temtamy syndrome ISO RGD:1604054 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:630 genetic disease ISO RGD:1604054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304779 Lrrc23 leucine rich repeat containing 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604054 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1304780 Spats2 spermatogenesis associated, serine-rich 2 gene DOID:630 genetic disease ISO RGD:1312420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312422 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:7240710 20190315 OMIM 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:31140736|PMID:32324744 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:30977854|PMID:32324744 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1312422 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 1304781 Trit1 tRNA isopentenyltransferase 1 gene DOID:9003816 Macrocephaly ISO RGD:1312422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30977854 1304782 Rprd1b regulation of nuclear pre-mRNA domain containing 1B gene DOID:2234 focal epilepsy ISO RGD:1312424 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1304782 Rprd1b regulation of nuclear pre-mRNA domain containing 1B gene DOID:630 genetic disease ISO RGD:1312424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304783 Dohh deoxyhypusine hydroxylase gene DOID:630 genetic disease ISO RGD:1606491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304783 Dohh deoxyhypusine hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606491 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304783 Dohh deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:7240710 20221123 OMIM 1304783 Dohh deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment PMID:25741868|PMID:35858628 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:7240710 20200226 OMIM 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 7 PMID:25741868|PMID:29754270|PMID:32840933|PMID:35711095|PMID:36140227 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1312426 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:29971487 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1312426 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:5419 schizophrenia ISO RGD:1312426 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:630 genetic disease ISO RGD:1312426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:9004538 Hearing Loss ISO RGD:1312426 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29971487 1304784 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312426 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304786 Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1304786 Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like gene DOID:2234 focal epilepsy ISO RGD:1312429 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1304786 Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like gene DOID:630 genetic disease ISO RGD:1312429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304786 Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1304786 Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312429 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1304787 Fbxo42 F-box protein 42 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1304787 Fbxo42 F-box protein 42 gene DOID:630 genetic disease ISO RGD:1312431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304788 Lactb lactamase, beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312433 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1304788 Lactb lactamase, beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312433 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1304788 Lactb lactamase, beta gene DOID:2717 Bloom syndrome ISO RGD:1312433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304788 Lactb lactamase, beta gene DOID:630 genetic disease ISO RGD:1312433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304788 Lactb lactamase, beta gene DOID:9256 colorectal cancer ISO RGD:1312433 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304788 Lactb lactamase, beta gene DOID:9970 obesity ISO RGD:1312433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 1304789 Serpina9 serpin family A member 9 gene DOID:0081063 DICER1 syndrome ISO RGD:1312435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1304789 Serpina9 serpin family A member 9 gene DOID:630 genetic disease ISO RGD:1312435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304790 Fam43a family with sequence similarity 43, member A gene DOID:630 genetic disease ISO RGD:1343774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304790 Fam43a family with sequence similarity 43, member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304791 Bfar bifunctional apoptosis regulator gene DOID:630 genetic disease ISO RGD:1312438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304792 Gcfc2 GC-rich sequence DNA-binding factor 2 gene DOID:630 genetic disease ISO RGD:1312440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304793 Tmem222 transmembrane protein 222 gene DOID:630 genetic disease ISO RGD:1604776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304793 Tmem222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:7240710 20211027 OMIM 1304793 Tmem222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities PMID:33824500 1304794 Cenpb centromere protein B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1312443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1304794 Cenpb centromere protein B gene DOID:12236 primary biliary cholangitis ISO RGD:1312443 D RGD:27226708|PMID:8911074 20200522 RGD 1304794 Cenpb centromere protein B gene DOID:2952 inner ear disease ISO RGD:1312443 D RGD:27226707|PMID:18520322 20200522 RGD associated with limited scleroderma 1304794 Cenpb centromere protein B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1312443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1304794 Cenpb centromere protein B gene DOID:630 genetic disease ISO RGD:1312443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304794 Cenpb centromere protein B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1312443 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1304795 Apbb1ip amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:630 genetic disease ISO RGD:1312445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304795 Apbb1ip amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304796 Mrpl15 mitochondrial ribosomal protein L15 gene DOID:0080600 COVID-19 ISO RGD:1312447 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304796 Mrpl15 mitochondrial ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:1312447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304797 B3galnt1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:630 genetic disease ISO RGD:1312449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304797 B3galnt1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:9005170 polyagglutination ISO RGD:1312449 D RGD:7240710 20230505 OMIM 1304798 Zfp184 zinc finger protein 184 gene DOID:10283 prostate cancer ISO RGD:1312451 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304798 Zfp184 zinc finger protein 184 gene DOID:630 genetic disease ISO RGD:1312451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304799 Dguok deoxyguanosine kinase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1304799 Dguok deoxyguanosine kinase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1312453 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:28492532 1304799 Dguok deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 IMP D RGD:15039296|PMID:30404003 20191127 RGD 1304799 Dguok deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:7240710 20130221 OMIM 1304799 Dguok deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral PMID:11687800|PMID:11983456|PMID:12205643|PMID:12210798|PMID:14568816|PMID:14623087|PMID:15639197|PMID:15887277|PMID:16263314|PMID:16908739|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19265691|PMID:22622127|PMID:23043144|PMID:24321534|PMID:25131622|PMID:25741868|PMID:26874653|PMID:27324545|PMID:28492532|PMID:29137425|PMID:30366773|PMID:30589726|PMID:32482602|PMID:9175742|PMID:9536098 1304799 Dguok deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312454 D RGD:15039214|PMID:31127938 20191127 RGD 1304799 Dguok deoxyguanosine kinase gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1312453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 PMID:12205643|PMID:14568816|PMID:16263314|PMID:17073823|PMID:18205204|PMID:19265691|PMID:24321534|PMID:25741868|PMID:28492532 1304799 Dguok deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:7240710 20190315 OMIM 1304799 Dguok deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 PMID:11983456|PMID:16908739|PMID:17073823|PMID:17452231|PMID:18205204|PMID:19125351|PMID:23043144|PMID:24423689|PMID:25326637|PMID:25741868|PMID:26874653|PMID:28492532|PMID:28493820|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30589726|PMID:30956829|PMID:31664448 1304799 Dguok deoxyguanosine kinase gene DOID:10762 portal hypertension ISO RGD:1312453 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1304799 Dguok deoxyguanosine kinase gene DOID:543 dystonia ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1304799 Dguok deoxyguanosine kinase gene DOID:630 genetic disease ISO RGD:1312453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12205643|PMID:14623087|PMID:19103789|PMID:23043144|PMID:25131622|PMID:25326637|PMID:25741868|PMID:27324545|PMID:28492532|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30366773|PMID:30956829|PMID:31664448|PMID:32482602 1304799 Dguok deoxyguanosine kinase gene DOID:700 mitochondrial metabolism disease susceptibility ISO RGD:1312453 D RGD:1601052|PMID:11687800 20070404 RGD mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA 1304799 Dguok deoxyguanosine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1304799 Dguok deoxyguanosine kinase gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1312453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 1304799 Dguok deoxyguanosine kinase gene DOID:9001065 Noncirrhotic Portal Hypertension 1 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1 PMID:11983456|PMID:17073823|PMID:17452231|PMID:18205204|PMID:23043144|PMID:26874653|PMID:28492532 1304799 Dguok deoxyguanosine kinase gene DOID:9002775 Cognitive Dysfunction ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:28492532 1304800 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1304800 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1312455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 1304800 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:25741868 1304800 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:630 genetic disease ISO RGD:1312455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304801 S1pr4 sphingosine-1-phosphate receptor 4 gene DOID:630 genetic disease ISO RGD:1312457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304801 S1pr4 sphingosine-1-phosphate receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312457 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304801 S1pr4 sphingosine-1-phosphate receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 1304802 Frmd3 FERM domain containing 3 gene DOID:630 genetic disease ISO RGD:1312459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304802 Frmd3 FERM domain containing 3 gene DOID:9001341 Chloracne ISO RGD:1312459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1304803 Wdr24 WD repeat domain 24 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1304803 Wdr24 WD repeat domain 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344935 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1304803 Wdr24 WD repeat domain 24 gene DOID:1826 epilepsy ISO RGD:1344935 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304803 Wdr24 WD repeat domain 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344935 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304803 Wdr24 WD repeat domain 24 gene DOID:630 genetic disease ISO RGD:1344935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304805 Krt12 keratin 12 gene DOID:0060451 Meesmann corneal dystrophy ISO RGD:1312464 D RGD:11554173 20200505 CTD CTD Direct Evidence: marker/mechanism 1304805 Krt12 keratin 12 gene DOID:0080670 Meesmann corneal dystrophy 1 ISO RGD:1312464 D RGD:7240710 20200429 OMIM 1304805 Krt12 keratin 12 gene DOID:0080670 Meesmann corneal dystrophy 1 ISO RGD:1312464 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 1 PMID:10644419|PMID:22174841|PMID:25741868|PMID:28492532|PMID:9171831|PMID:9399908 1304805 Krt12 keratin 12 gene DOID:2566 corneal dystrophy susceptibility ISO RGD:1312464 D RGD:1600169|PMID:9171831 20070301 RGD protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 1304805 Krt12 keratin 12 gene DOID:630 genetic disease ISO RGD:1312464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20577595|PMID:28492532 1304808 Ino80d INO80 complex subunit D gene DOID:11372 megacolon ISO RGD:1606537 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1304808 Ino80d INO80 complex subunit D gene DOID:14557 primary pulmonary hypertension ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1304808 Ino80d INO80 complex subunit D gene DOID:630 genetic disease ISO RGD:1606537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304808 Ino80d INO80 complex subunit D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606537 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304809 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1304809 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1304809 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1312470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304809 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:9245 Alagille syndrome ISO RGD:1312470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 1304810 Trmt9b tRNA methyltransferase 9B (putative) gene DOID:630 genetic disease ISO RGD:1602875 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304811 Tmc4 transmembrane channel-like 4 gene DOID:630 genetic disease ISO RGD:1312473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304812 Fchsd2 FCH and double SH3 domains 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1312475 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1304812 Fchsd2 FCH and double SH3 domains 2 gene DOID:1059 intellectual disability ISO RGD:1312475 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304812 Fchsd2 FCH and double SH3 domains 2 gene DOID:630 genetic disease ISO RGD:1312475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304812 Fchsd2 FCH and double SH3 domains 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1304813 Rbms2 RNA binding motif, single stranded interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304814 Klhl9 kelch-like family member 9 gene DOID:5419 schizophrenia ISO RGD:1347061 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304814 Klhl9 kelch-like family member 9 gene DOID:630 genetic disease ISO RGD:1347061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386|PMID:31152317|PMID:31547530|PMID:32860223|PMID:33753533|PMID:33892339 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:30311386 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0050567 orofacial cleft susceptibility ISO RGD:1312479 D RGD:13204730|PMID:27242896 20170717 RGD DNA:SNP:exon:rs1450425 (human) 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0060356 Vici syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0080046 Stickler syndrome ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:7240710 20130221 OMIM 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:16199547|PMID:16936105|PMID:17576681|PMID:19732867|PMID:21465660|PMID:22341973|PMID:22975204|PMID:23226338|PMID:23804846|PMID:23897863|PMID:24033266|PMID:25251670|PMID:25333069|PMID:25741868|PMID:25792669|PMID:25938503|PMID:26346818|PMID:26467025|PMID:26763877|PMID:26969326|PMID:26973026|PMID:27068579|PMID:27246798|PMID:27959697|PMID:27984600|PMID:28000701|PMID:28383030|PMID:28492532|PMID:29309402|PMID:29669943|PMID:29676012|PMID:29799290|PMID:29907799|PMID:30123251|PMID:30311386|PMID:31152317|PMID:31547530|PMID:31709873|PMID:31827275|PMID:32279305|PMID:32682410|PMID:32860223|PMID:33753533|PMID:33892339|PMID:34171171|PMID:35711932|PMID:35802133|PMID:36633841|PMID:9536098 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:1059 intellectual disability ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1312479 D RGD:11072687|PMID:22341973 20170717 RGD DNA:missense mutations: :multiple 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:630 genetic disease ISO RGD:1312479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1312479 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:9004538 Hearing Loss ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:22341973|PMID:23804846|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:29309402|PMID:30311386|PMID:32682410 1304815 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:9008681 Deafness ISO RGD:1312479 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868 1304816 Fkbp15 FKBP prolyl isomerase family member 15 gene DOID:303 substance-related disorder ISO RGD:1312480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1304816 Fkbp15 FKBP prolyl isomerase family member 15 gene DOID:630 genetic disease ISO RGD:1312480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304816 Fkbp15 FKBP prolyl isomerase family member 15 gene DOID:670 amphetamine abuse ISO RGD:1312480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1304817 Atg7 autophagy related 7 gene DOID:0050908 myelodysplastic syndrome ISS RGD:1558502 D RGD:13592920 20180518 MouseDO OMIM:614286 1304817 Atg7 autophagy related 7 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1312481 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NAFLD1 PMID:35405176 1304817 Atg7 autophagy related 7 gene DOID:10763 hypertension IEP D RGD:11557985|PMID:24119246 20161103 RGD protein:increased expression:skeletal muscle 1304817 Atg7 autophagy related 7 gene DOID:1289 neurodegenerative disease IEP D RGD:11557995|PMID:26208597 20161104 RGD 1304817 Atg7 autophagy related 7 gene DOID:14330 Parkinson's disease ISS RGD:1558502 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 1304817 Atg7 autophagy related 7 gene DOID:2355 anemia ISO RGD:1312481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1304817 Atg7 autophagy related 7 gene DOID:3070 high grade glioma treatment IDA D RGD:11557994|PMID:25542083 20161104 RGD 1304817 Atg7 autophagy related 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1312481 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1304817 Atg7 autophagy related 7 gene DOID:5844 myocardial infarction IEP D RGD:11557988|PMID:24427319 20161103 RGD mRNA:increased expression:plantaris 1304817 Atg7 autophagy related 7 gene DOID:607 paraplegia IEP D RGD:11557990|PMID:23055316 20161103 RGD 1304817 Atg7 autophagy related 7 gene DOID:614 lymphopenia ISO RGD:1312481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1304817 Atg7 autophagy related 7 gene DOID:630 genetic disease ISO RGD:1312481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304817 Atg7 autophagy related 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1312481 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29191453 1304817 Atg7 autophagy related 7 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11553820|PMID:25040536 20161013 RGD protein:increased expression:axon 1304817 Atg7 autophagy related 7 gene DOID:9001981 Weight Loss ISO RGD:1312481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1304817 Atg7 autophagy related 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312481 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 1304817 Atg7 autophagy related 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312481 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304817 Atg7 autophagy related 7 gene DOID:9005369 Hepatomegaly ISO RGD:1312481 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 1304817 Atg7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558502 D RGD:11557993|PMID:24874076 20161104 RGD protein:decreased expression:myocardium 1304817 Atg7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:11557996|PMID:24993523 20161104 RGD 1304817 Atg7 autophagy related 7 gene DOID:9005749 Necrosis ISO RGD:1312481 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21081844 1304817 Atg7 autophagy related 7 gene DOID:9007874 Liver Failure ISO RGD:1312481 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 1304817 Atg7 autophagy related 7 gene DOID:9008617 Lethargy ISO RGD:1312481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1304817 Atg7 autophagy related 7 gene DOID:9009088 Autosomal Recessive Spinocerebellar Ataxia 31 ISO RGD:1312481 D RGD:7240710 20210728 OMIM 1304817 Atg7 autophagy related 7 gene DOID:9009088 Autosomal Recessive Spinocerebellar Ataxia 31 ISO RGD:1312481 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 PMID:34161705 1304817 Atg7 autophagy related 7 gene DOID:9074 systemic lupus erythematosus ISS RGD:1558502 D RGD:13592920 20190502 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1304818 Heca hdc homolog, cell cycle regulator gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1312483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1304818 Heca hdc homolog, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1312483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304819 Cdc23 cell division cycle 23 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1304819 Cdc23 cell division cycle 23 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304819 Cdc23 cell division cycle 23 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1304819 Cdc23 cell division cycle 23 gene DOID:630 genetic disease ISO RGD:1312484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304819 Cdc23 cell division cycle 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312484 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304819 Cdc23 cell division cycle 23 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:0050700 cardiomyopathy ISO RGD:1605646 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:630 genetic disease ISO RGD:1605646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9000197 Edema ISO RGD:1605646 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605646 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9002371 Cardiotoxicity ISO RGD:1605646 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605646 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9005749 Necrosis ISO RGD:1605646 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1605646 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1605646 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 1304822 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9538 multiple myeloma ISO RGD:1605646 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 1304823 Kdm8 lysine demethylase 8 gene DOID:1612 breast cancer ISO RGD:1602684 D RGD:9587844|PMID:20457893 20141021 RGD mRNA:increased expression:breast (human) 1304823 Kdm8 lysine demethylase 8 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1602684 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 1304823 Kdm8 lysine demethylase 8 gene DOID:630 genetic disease ISO RGD:1602684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304823 Kdm8 lysine demethylase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1602684 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1304825 Fam136a family with sequence similarity 136, member A gene DOID:630 genetic disease ISO RGD:1605923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304825 Fam136a family with sequence similarity 136, member A gene DOID:9849 Meniere's disease ISO RGD:1605923 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1312492 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312492 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:7240710 20130221 OMIM 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:11983712|PMID:12093361|PMID:12217961|PMID:12736397|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:25019053|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:9536098 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1312492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1312492 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312492 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313 1304826 Alg12 ALG12, alpha-1,6-mannosyltransferase gene DOID:9007661 Dwarfism ISO RGD:1312492 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1332253 D RGD:11532770|PMID:26060116 20160907 RGD 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1606199 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:7240710 20140911 OMIM 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:22958903|PMID:25558065|PMID:25741868|PMID:26436962|PMID:26467025|PMID:27066570|PMID:28492532|PMID:31130284|PMID:32570172 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:7240710 20190315 OMIM 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 PMID:25741868|PMID:27066570|PMID:28492532|PMID:32570172 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:630 genetic disease ISO RGD:1606199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304827 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:9008539 Perinatal Death ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:22958903|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31130284 1304829 Med13 mediator complex subunit 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1304829 Med13 mediator complex subunit 13 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1312495 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 1304829 Med13 mediator complex subunit 13 gene DOID:1059 intellectual disability ISO RGD:1312495 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1304829 Med13 mediator complex subunit 13 gene DOID:11372 megacolon ISO RGD:1312495 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1304829 Med13 mediator complex subunit 13 gene DOID:12849 autistic disorder ISO RGD:1312495 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 1304829 Med13 mediator complex subunit 13 gene DOID:1826 epilepsy ISO RGD:1312495 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1304829 Med13 mediator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1312495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1304829 Med13 mediator complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312495 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304829 Med13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:7240710 20200226 OMIM 1304829 Med13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:25741868|PMID:29740699 1304829 Med13 mediator complex subunit 13 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:9681715|PMID:25287062 20141203 RGD associated with Hypertension, Pulmonary 1304829 Med13 mediator complex subunit 13 gene DOID:9008582 Developmental Disease ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1304830 Otop2 otopetrin 2 gene DOID:630 genetic disease ISO RGD:1312497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304831 Il4i1 interleukin 4 induced 1 gene DOID:630 genetic disease ISO RGD:1312498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304831 Il4i1 interleukin 4 induced 1 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1312498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatal degeneration familial PMID:16786527|PMID:25741868|PMID:28492532 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1312500 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:7240710 20160810 OMIM 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:29653220|PMID:31791873|PMID:33294374 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:1312500 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids PMID:31775912|PMID:6595937 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:7240710 20130221 OMIM 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31827005|PMID:32314272|PMID:32376792|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30124830|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:11836 clubfoot ISO RGD:1312500 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312500 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:9536098 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive PMID:28492532|PMID:33909043|PMID:6492094 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 1304832 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 PMID:31775912|PMID:6595937 1304833 Rc3h2 ring finger and CCCH-type domains 2 gene DOID:630 genetic disease ISO RGD:1312502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304834 Rtkn2 rhotekin 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312504 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1304834 Rtkn2 rhotekin 2 gene DOID:630 genetic disease ISO RGD:1312504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304835 Calhm6 calcium homeostasis modulator family member 6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1605771 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1304835 Calhm6 calcium homeostasis modulator family member 6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1605771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1304835 Calhm6 calcium homeostasis modulator family member 6 gene DOID:1059 intellectual disability ISO RGD:1605771 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1304835 Calhm6 calcium homeostasis modulator family member 6 gene DOID:10907 microcephaly ISO RGD:1605771 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1304835 Calhm6 calcium homeostasis modulator family member 6 gene DOID:1826 epilepsy ISO RGD:1605771 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1304835 Calhm6 calcium homeostasis modulator family member 6 gene DOID:9000495 Tremor ISO RGD:1605771 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1604948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604948 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604948 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604948 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304836 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:0060041 autism spectrum disorder ISO RGD:1348396 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1348396 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1348396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1348396 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:1540 parathyroid carcinoma ISO RGD:1348396 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:5419 schizophrenia ISO RGD:1348396 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:630 genetic disease ISO RGD:1348396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348396 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304837 Gpr89b G protein-coupled receptor 89B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348396 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2293894 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2293894 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2293894 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0110994 Joubert syndrome 25 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0111934 immunodeficiency 38 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0111935 immunodeficiency 16 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:630 genetic disease ISO RGD:2293894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293894 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2293894 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1304840 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1304841 Ctdspl CTD small phosphatase like gene DOID:0050451 Brugada syndrome ISO RGD:1345284 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1304841 Ctdspl CTD small phosphatase like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345284 D RGD:153350086|PMID:22491060 20220906 RGD mRNA:decreased expression:lung (human) 1304841 Ctdspl CTD small phosphatase like gene DOID:630 genetic disease ISO RGD:1345284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304841 Ctdspl CTD small phosphatase like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345284 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1304842 Mtmr14 myotubularin related protein 14 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF PMID:17008356|PMID:19590496|PMID:25741868|PMID:28492532 1304842 Mtmr14 myotubularin related protein 14 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1605051 D RGD:7240710 20130221 OMIM 1304842 Mtmr14 myotubularin related protein 14 gene DOID:2843 long QT syndrome ISO RGD:1605051 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1304842 Mtmr14 myotubularin related protein 14 gene DOID:4001 ovarian carcinoma ISO RGD:1605051 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 1304842 Mtmr14 myotubularin related protein 14 gene DOID:422 congenital structural myopathy ISO RGD:1605051 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism 1304842 Mtmr14 myotubularin related protein 14 gene DOID:422 congenital structural myopathy ISO RGD:1605051 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:17008356|PMID:25741868|PMID:28492532 1304842 Mtmr14 myotubularin related protein 14 gene DOID:630 genetic disease ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304842 Mtmr14 myotubularin related protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605051 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304842 Mtmr14 myotubularin related protein 14 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605051 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1304843 Vill villin-like gene DOID:0050451 Brugada syndrome ISO RGD:1347824 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1304843 Vill villin-like gene DOID:630 genetic disease ISO RGD:1347824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304843 Vill villin-like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1347824 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1304846 Amz2 archaelysin family metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:1605392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304846 Amz2 archaelysin family metallopeptidase 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1605392 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 1304847 Zfp444 zinc finger protein 444 gene DOID:630 genetic disease ISO RGD:1312520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304848 Traf3ip3 TRAF3 interacting protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604284 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304848 Traf3ip3 TRAF3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1604284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304848 Traf3ip3 TRAF3 interacting protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604284 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304849 Atad2 ATPase family, AAA domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1312522 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1304849 Atad2 ATPase family, AAA domain containing 2 gene DOID:630 genetic disease ISO RGD:1312522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:19156145|REF_RGD_ID:151347861 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1312524 D RGD:151347859|PMID:30144500 20220204 RGD protein:increased expression:colorectum (human) 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:10908 hydrocephalus ISO RGD:1312524 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:299 adenocarcinoma ISO RGD:1312524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1312524 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1312524 D RGD:127285652|PMID:33532313 20210624 RGD 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:630 genetic disease ISO RGD:1312524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1312524 D RGD:151347860|PMID:32514535 20220204 RGD mRNA, protein:increased expression:liver (human) 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9002758 Congenital Hydrocephalus 5 ISO RGD:1312524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to PMID:29983323|PMID:33077954 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9002758 Congenital Hydrocephalus 5 susceptibility ISO RGD:1312524 D RGD:7240710 20230505 OMIM 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1312524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9006205 Animal Disease Models ISO RGD:1312524 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1312524 D RGD:126848759|PMID:31922331 20220204 RGD associated with gastric carcinoma;protein:decreased expression:stomach (human) 1304850 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 gene DOID:9256 colorectal cancer ISO RGD:1312524 D RGD:151347862|PMID:32606978 20220204 RGD RNA:increased expression:colorectum (human) 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1312526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1312526 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:13636 Fanconi anemia ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:14780 KBG syndrome ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:630 genetic disease ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26539891|PMID:29130579 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:7240710 20190315 OMIM 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al Kaissi syndrome PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579 1304851 Cdk10 cyclin-dependent kinase 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1312526 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1304853 Dlx2 distal-less homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312529 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1304853 Dlx2 distal-less homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1312529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 1304853 Dlx2 distal-less homeobox 2 gene DOID:630 genetic disease ISO RGD:1312529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304853 Dlx2 distal-less homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 1304854 Plekhh3 pleckstrin homology, MyTH4 and FERM domain containing H3 gene DOID:630 genetic disease ISO RGD:1602457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304855 Capn7 calpain 7 gene DOID:0060417 3p deletion syndrome ISO RGD:1312532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1304855 Capn7 calpain 7 gene DOID:630 genetic disease ISO RGD:1312532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304857 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304857 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:630 genetic disease ISO RGD:1312535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304857 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312535 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304857 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304858 Vps39 VPS39 subunit of HOPS complex gene DOID:2717 Bloom syndrome ISO RGD:1312537 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304858 Vps39 VPS39 subunit of HOPS complex gene DOID:5419 schizophrenia ISO RGD:1312537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042115 1304858 Vps39 VPS39 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1312537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304858 Vps39 VPS39 subunit of HOPS complex gene DOID:9008939 Breast Neoplasms ISO RGD:1312537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1304858 Vps39 VPS39 subunit of HOPS complex gene DOID:9256 colorectal cancer ISO RGD:1312537 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304859 Sh3glb1 SH3 domain -containing GRB2-like endophilin B1 gene DOID:630 genetic disease ISO RGD:1312539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1312541 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:12849 autistic disorder ISO RGD:1312541 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:630 genetic disease ISO RGD:1312541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312541 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:9263 homocystinuria ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1304860 Ube2g2 ubiquitin-conjugating enzyme E2G 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1304861 Cuedc1 CUE domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1349850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1304861 Cuedc1 CUE domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1304864 Tfap2d transcription factor AP-2 delta gene DOID:630 genetic disease ISO RGD:1347905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304865 Muc20 mucin 20, cell surface associated gene DOID:0080162 lupus nephritis ISO RGD:1312551 D RGD:7364790|PMID:14565953 20130927 RGD 1304865 Muc20 mucin 20, cell surface associated gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1312550 D RGD:7364789|PMID:16508246 20130927 RGD DNA:repeat 1304865 Muc20 mucin 20, cell surface associated gene DOID:3021 acute kidney failure ISO RGD:1312551 D RGD:7364790|PMID:14565953 20130927 RGD 1304865 Muc20 mucin 20, cell surface associated gene DOID:5199 ureteral obstruction ISO RGD:1312551 D RGD:7364790|PMID:14565953 20130927 RGD 1304866 Lrrtm3 leucine rich repeat transmembrane neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 1304866 Lrrtm3 leucine rich repeat transmembrane neuronal 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1312552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:28492532 1304866 Lrrtm3 leucine rich repeat transmembrane neuronal 3 gene DOID:630 genetic disease ISO RGD:1312552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312554 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:1059 intellectual disability ISO RGD:1312554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:543 dystonia ISO RGD:1312554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:630 genetic disease ISO RGD:1312554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:9003015 Proteasome-Associated Autoinflammatory Syndrome 4 ISO RGD:1312554 D RGD:7240710 20210303 OMIM 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:9003015 Proteasome-Associated Autoinflammatory Syndrome 4 ISO RGD:1312554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30664889 1304867 Psmg2 proteasome assembly chaperone 2 gene DOID:9007661 Dwarfism ISO RGD:1312554 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:0050777 Joubert syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1312556 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:10283 prostate cancer ISO RGD:1312556 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:1826 epilepsy ISO RGD:1312556 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:630 genetic disease ISO RGD:1312556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304868 Dph7 diphthamide biosynthesis 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:0050581 brachydactyly ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:0080006 bone development disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:0080204 renal hypoplasia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:1168 familial hyperlipidemia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:3138 acanthosis nigricans ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:630 genetic disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1601867 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:7240710 20190315 OMIM 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:34244600 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9007661 Dwarfism ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9007692 Insulin Resistance ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304869 Prmt7 protein arginine methyltransferase 7 gene DOID:9970 obesity ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 1304873 Mrtfa myocardin related transcription factor A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1304873 Mrtfa myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:7240710 20200429 OMIM 1304873 Mrtfa myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 66 PMID:25741868|PMID:26224645|PMID:27479822|PMID:28492532 1304873 Mrtfa myocardin related transcription factor A gene DOID:630 genetic disease ISO RGD:1312564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304873 Mrtfa myocardin related transcription factor A gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312564 D RGD:1599948|PMID:11431691 20070221 RGD 1304874 Rexo2 RNA exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1603665 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304874 Rexo2 RNA exonuclease 2 gene DOID:630 genetic disease ISO RGD:1603665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304874 Rexo2 RNA exonuclease 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603665 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1304875 Dlx3 distal-less homeobox 3 gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1312567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant PMID:28492532 1304875 Dlx3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:7240710 20130221 OMIM 1304875 Dlx3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV PMID:25741868|PMID:28492532 1304875 Dlx3 distal-less homeobox 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1312567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 1304875 Dlx3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:7240710 20131030 OMIM 1304875 Dlx3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:27924851|PMID:28492532|PMID:9467018|PMID:9783705 1304875 Dlx3 distal-less homeobox 3 gene DOID:13223 uterine fibroid ISO RGD:1312567 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 1304875 Dlx3 distal-less homeobox 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:1312567 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:25741868 1304875 Dlx3 distal-less homeobox 3 gene DOID:630 genetic disease ISO RGD:1312567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304876 Ggct gamma-glutamyl cyclotransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1304876 Ggct gamma-glutamyl cyclotransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312569 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304876 Ggct gamma-glutamyl cyclotransferase gene DOID:630 genetic disease ISO RGD:1312569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304876 Ggct gamma-glutamyl cyclotransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312569 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304877 Trim44 tripartite motif-containing 44 gene DOID:1059 intellectual disability ISO RGD:1312571 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304877 Trim44 tripartite motif-containing 44 gene DOID:12271 aniridia ISO RGD:1312571 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1304877 Trim44 tripartite motif-containing 44 gene DOID:630 genetic disease ISO RGD:1312571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304877 Trim44 tripartite motif-containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:7240710 20190315 OMIM 1304877 Trim44 tripartite motif-containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aniridia 3 PMID:25741868|PMID:26394807 1304878 Atg2b autophagy related 2B gene DOID:0070004 myeloid neoplasm ISO RGD:1312572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 1304878 Atg2b autophagy related 2B gene DOID:2224 essential thrombocythemia ISO RGD:1312572 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 1304878 Atg2b autophagy related 2B gene DOID:4971 myelofibrosis ISO RGD:1312572 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 1304878 Atg2b autophagy related 2B gene DOID:630 genetic disease ISO RGD:1312572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304878 Atg2b autophagy related 2B gene DOID:8692 myeloid leukemia ISO RGD:1312572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 1304878 Atg2b autophagy related 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1312572 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 1304880 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0050553 JMP syndrome ISO RGD:1312575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1304880 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:7240710 20210303 OMIM 1304880 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 PMID:25741868|PMID:33308444 1304880 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1312575 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304880 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:630 genetic disease ISO RGD:1312575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304880 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1312575 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33308444 1304881 Dcaf15 DDB1 and CUL4 associated factor 15 gene DOID:630 genetic disease ISO RGD:2306328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304883 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312578 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1304883 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:2717 Bloom syndrome ISO RGD:1312578 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304883 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:630 genetic disease ISO RGD:1312578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304883 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:7240710 20190315 OMIM 1304883 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 PMID:25741868|PMID:28492532|PMID:28874591 1304883 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9256 colorectal cancer ISO RGD:1312578 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304884 6430548M08Rikl RIKEN cDNA 6430548M08 gene like gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351889 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1304884 6430548M08Rikl RIKEN cDNA 6430548M08 gene like gene DOID:5419 schizophrenia ISO RGD:1351889 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304884 6430548M08Rikl RIKEN cDNA 6430548M08 gene like gene DOID:630 genetic disease ISO RGD:1351889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304885 Sh3d19 SH3 domain containing 19 gene DOID:4990 essential tremor ISO RGD:1605862 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 1304885 Sh3d19 SH3 domain containing 19 gene DOID:630 genetic disease ISO RGD:1605862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304886 Tmem54 transmembrane protein 54 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606187 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1304886 Tmem54 transmembrane protein 54 gene DOID:630 genetic disease ISO RGD:1606187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0080690 RASopathy ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:10283 prostate cancer ISO RGD:1312583 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:1059 intellectual disability ISO RGD:1312583 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:630 genetic disease ISO RGD:1312583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33501714 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312583 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1312583 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1304887 Dscaml1 DS cell adhesion molecule-like 1 gene DOID:9007661 Dwarfism ISO RGD:1312583 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:0050436 mulibrey nanism ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perheentupa syndrome PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:0050675 Birk-Barel syndrome ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:10283 prostate cancer ISO RGD:1312585 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:1059 intellectual disability ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:10629 microphthalmia ISS RGD:1312586 D RGD:13592920 20210812 MouseDO 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:1826 epilepsy ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:630 genetic disease ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:670 amphetamine abuse ISO RGD:1312585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:83 cataract ISS RGD:1312586 D RGD:13592920 20210812 MouseDO OMIM:601371 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract PMID:26056285|PMID:28492532 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312585 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31278393|PMID:32427099 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:7240710 20230505 OMIM 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 50 with or without glaucoma PMID:25090642 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 1304888 Trpm3 transient receptor potential cation channel, subfamily M, member 3 gene DOID:9008582 Developmental Disease ISO RGD:1312585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1304889 Gpr18 G protein-coupled receptor 18 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1344300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1304889 Gpr18 G protein-coupled receptor 18 gene DOID:4621 holoprosencephaly ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1304889 Gpr18 G protein-coupled receptor 18 gene DOID:630 genetic disease ISO RGD:1344300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304889 Gpr18 G protein-coupled receptor 18 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1344300 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1304890 Ufm1 ubiquitin-fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:7240710 20190315 OMIM 1304890 Ufm1 ubiquitin-fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 PMID:25741868|PMID:28492532|PMID:28931644|PMID:29868776|PMID:32860008 1304890 Ufm1 ubiquitin-fold modifier 1 gene DOID:630 genetic disease ISO RGD:1344837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312590 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25728777 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0050902 medulloblastoma ISO RGD:1312590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:7240710 20150513 OMIM 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome PMID:17374998|PMID:23431171|PMID:25728775|PMID:25728777|PMID:25741868|PMID:26938784|PMID:27133397|PMID:28492532|PMID:30245513|PMID:31292255|PMID:32041641|PMID:33318932|PMID:34748993 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1312590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0090039 torsion dystonia 6 ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0111959 immunodeficiency 15B ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1304892 Kat6a lysine acetyltransferase 6A gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1312590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25741868|PMID:28492532 1304892 Kat6a lysine acetyltransferase 6A gene DOID:1059 intellectual disability ISO RGD:1312590 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1304892 Kat6a lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9590333|PMID:22921202 20141125 RGD 1304892 Kat6a lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISS RGD:1312591 D RGD:13592920 20180518 MouseDO OMIM:188400 1304892 Kat6a lysine acetyltransferase 6A gene DOID:630 genetic disease ISO RGD:1312590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28135719|PMID:28492532|PMID:30245513|PMID:32041641 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2312274|PMID:17083329 20140925 RGD protein:increased expression:liver (rat) 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312590 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1312590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312590 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1312590 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1312590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30245513|PMID:31292255 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9008939 Breast Neoplasms severity ISO RGD:1312590 D RGD:9590335|PMID:25220592 20141125 RGD mRNA:increased expression:breast (human) 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1312590 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1304892 Kat6a lysine acetyltransferase 6A gene DOID:9119 acute myeloid leukemia ISO RGD:1312590 D RGD:9590334|PMID:12676584 20141125 RGD human gene in a mouse model;DNA:translocation:exon 1304893 Ccr8 C-C motif chemokine receptor 8 gene DOID:1824 status epilepticus ISO RGD:1312592 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 1304893 Ccr8 C-C motif chemokine receptor 8 gene DOID:2841 asthma IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 1304893 Ccr8 C-C motif chemokine receptor 8 gene DOID:3770 pulmonary fibrosis IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 1304893 Ccr8 C-C motif chemokine receptor 8 gene DOID:630 genetic disease ISO RGD:1312592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304894 Clca2 chloride channel accessory 2 gene DOID:630 genetic disease ISO RGD:1312594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304894 Clca2 chloride channel accessory 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1312594 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1304895 Ddx31 DEAD-box helicase 31 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1304895 Ddx31 DEAD-box helicase 31 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1312596 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1304895 Ddx31 DEAD-box helicase 31 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1304895 Ddx31 DEAD-box helicase 31 gene DOID:0081097 Rafiq syndrome ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1304895 Ddx31 DEAD-box helicase 31 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1312596 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1304895 Ddx31 DEAD-box helicase 31 gene DOID:3652 Leigh disease ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1304895 Ddx31 DEAD-box helicase 31 gene DOID:630 genetic disease ISO RGD:1312596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304896 Glt1d1 glycosyltransferase 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1606714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304897 Rpl23a ribosomal protein L23A gene DOID:14330 Parkinson's disease ISO RGD:1312599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 1304897 Rpl23a ribosomal protein L23A gene DOID:630 genetic disease ISO RGD:1312599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304897 Rpl23a ribosomal protein L23A gene DOID:9008939 Breast Neoplasms ISO RGD:1312599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1304898 Prtn3 proteinase 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312601 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1304898 Prtn3 proteinase 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1312601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25288799 1304898 Prtn3 proteinase 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1312601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1304898 Prtn3 proteinase 3 gene DOID:630 genetic disease ISO RGD:1312601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304898 Prtn3 proteinase 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:1312601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 1304899 Myt1 myelin transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312603 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1304899 Myt1 myelin transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1312603 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1304899 Myt1 myelin transcription factor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312603 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 1304899 Myt1 myelin transcription factor 1 gene DOID:630 genetic disease ISO RGD:1312603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304900 Zfp598 zinc finger protein 598 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1304900 Zfp598 zinc finger protein 598 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304900 Zfp598 zinc finger protein 598 gene DOID:1826 epilepsy ISO RGD:1312605 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304900 Zfp598 zinc finger protein 598 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312605 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304900 Zfp598 zinc finger protein 598 gene DOID:630 genetic disease ISO RGD:1312605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304902 Nlrc3 NLR family, CARD domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304902 Nlrc3 NLR family, CARD domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304902 Nlrc3 NLR family, CARD domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304902 Nlrc3 NLR family, CARD domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1304902 Nlrc3 NLR family, CARD domain containing 3 gene DOID:630 genetic disease ISO RGD:1604212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304902 Nlrc3 NLR family, CARD domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1604212 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:30081150 1304904 Gpat2 glycerol-3-phosphate acyltransferase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1601718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1604619 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:25741868 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604619 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:12442278|PMID:12955720|PMID:15241807|PMID:15689448|PMID:16199547|PMID:16287098|PMID:16378744|PMID:17576681|PMID:17876718|PMID:18484607|PMID:18710657|PMID:19881469|PMID:20301515|PMID:20301788|PMID:21896407|PMID:21943391|PMID:22078177|PMID:23844448|PMID:23876334|PMID:24120057|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:26147980|PMID:27317439|PMID:27825773|PMID:28492532|PMID:30809705|PMID:30980944|PMID:34387910|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9536098 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:1059 intellectual disability ISO RGD:1604619 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32843486 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:14780 KBG syndrome ISO RGD:1604619 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31690835 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:630 genetic disease ISO RGD:1604619 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604619 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:7240710 20190315 OMIM 1304906 Trappc2l trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30120216|PMID:32843486 1304909 Ddx42 DEAD-box helicase 42 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312619 D RGD:9850279|PMID:16211284 20150406 RGD mRNA:decreased expression:bone marrow mononuclear cell (human) 1304909 Ddx42 DEAD-box helicase 42 gene DOID:630 genetic disease ISO RGD:1312619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304909 Ddx42 DEAD-box helicase 42 gene DOID:9007346 Cachexia IEP D RGD:1641826|PMID:14718385 20150402 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat) 1304909 Ddx42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1312620 D RGD:1641826|PMID:14718385 20150402 RGD associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse) 1304910 Zfp775 zinc finger protein 775 gene DOID:2843 long QT syndrome ISO RGD:1603510 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1304910 Zfp775 zinc finger protein 775 gene DOID:630 genetic disease ISO RGD:1603510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304912 Lipm lipase, family member M gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1312623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 1304912 Lipm lipase, family member M gene DOID:630 genetic disease ISO RGD:1312623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304912 Lipm lipase, family member M gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312623 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1304913 Mrpl45 mitochondrial ribosomal protein L45 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1312625 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 1304913 Mrpl45 mitochondrial ribosomal protein L45 gene DOID:1936 atherosclerosis ISO RGD:1312625 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 1304913 Mrpl45 mitochondrial ribosomal protein L45 gene DOID:630 genetic disease ISO RGD:1312625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304914 Adgra3 adhesion G protein-coupled receptor A3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:26355662|PMID:28492532|PMID:30718709 1304914 Adgra3 adhesion G protein-coupled receptor A3 gene DOID:630 genetic disease ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304914 Adgra3 adhesion G protein-coupled receptor A3 gene DOID:8501 fundus dystrophy ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:28714225 1304915 Mrpl42 mitochondrial ribosomal protein L42 gene DOID:630 genetic disease ISO RGD:1312629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304916 Optc opticin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1312631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1304916 Optc opticin gene DOID:1540 parathyroid carcinoma ISO RGD:1312631 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304916 Optc opticin gene DOID:630 genetic disease ISO RGD:1312631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304916 Optc opticin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1312631 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1304916 Optc opticin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312631 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304917 Arsl arylsulfatase L gene DOID:0060041 autism spectrum disorder ISO RGD:14265589 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1304917 Arsl arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:7720070|PMID:18348268 1304917 Arsl arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:7240710 20181017 OMIM 1304917 Arsl arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 PMID:12567415|PMID:1557308|PMID:16199547|PMID:16937129|PMID:17576681|PMID:18348268|PMID:18414213|PMID:20301713|PMID:20523025|PMID:20598055|PMID:23462608|PMID:23470839|PMID:24033266|PMID:25741868|PMID:2722194|PMID:28257906|PMID:28492532|PMID:29565423|PMID:32860008|PMID:7720070|PMID:9409863|PMID:9497243|PMID:9536098|PMID:9863597 1304917 Arsl arylsulfatase L gene DOID:12849 autistic disorder ISO RGD:1312633 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304917 Arsl arylsulfatase L gene DOID:2581 chondrodysplasia punctata susceptibility ISO RGD:1312633 D RGD:1599238|PMID:9409863 20070122 RGD 1304917 Arsl arylsulfatase L gene DOID:630 genetic disease ISO RGD:1312633 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304917 Arsl arylsulfatase L gene DOID:65 connective tissue disease ISO RGD:1312633 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 1304917 Arsl arylsulfatase L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312633 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304918 Asf1b anti-silencing function 1B histone chaperone gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1312634 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 1304918 Asf1b anti-silencing function 1B histone chaperone gene DOID:1612 breast cancer disease_progression ISO RGD:1312634 D RGD:9586017|PMID:21179005 20140924 RGD 1304918 Asf1b anti-silencing function 1B histone chaperone gene DOID:630 genetic disease ISO RGD:1312634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304918 Asf1b anti-silencing function 1B histone chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1312634 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1304919 S100a13 S100 calcium binding protein A13 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304919 S100a13 S100 calcium binding protein A13 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304919 S100a13 S100 calcium binding protein A13 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304919 S100a13 S100 calcium binding protein A13 gene DOID:1540 parathyroid carcinoma ISO RGD:1312636 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304919 S100a13 S100 calcium binding protein A13 gene DOID:5812 MHC class II deficiency ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304919 S100a13 S100 calcium binding protein A13 gene DOID:630 genetic disease ISO RGD:1312636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304919 S100a13 S100 calcium binding protein A13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312636 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304920 Ubqln3 ubiquilin 3 gene DOID:630 genetic disease ISO RGD:1312638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304921 Cdc27 cell division cycle 27 gene DOID:10485 esophageal atresia ISO RGD:1312639 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1304921 Cdc27 cell division cycle 27 gene DOID:1324 lung cancer ISO RGD:1312639 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1304921 Cdc27 cell division cycle 27 gene DOID:5409 lung small cell carcinoma ISO RGD:1312639 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 1304921 Cdc27 cell division cycle 27 gene DOID:684 hepatocellular carcinoma ISO RGD:1312639 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1304921 Cdc27 cell division cycle 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312639 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1304921 Cdc27 cell division cycle 27 gene DOID:9007098 Pulmonary Atresia ISO RGD:1312639 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 1304922 Irf2 interferon regulatory factor 2 gene DOID:0080600 COVID-19 ISO RGD:1312641 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1304922 Irf2 interferon regulatory factor 2 gene DOID:630 genetic disease ISO RGD:1312641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304922 Irf2 interferon regulatory factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 1304923 Batf basic leucine zipper ATF-like transcription factor gene DOID:1059 intellectual disability ISO RGD:1312643 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1304923 Batf basic leucine zipper ATF-like transcription factor gene DOID:630 genetic disease ISO RGD:1312643 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1344240 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:28777931|PMID:35326425 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1826 epilepsy ISO RGD:1344240 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344240 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:3652 Leigh disease ISO RGD:1344240 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28777931 1304924 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1344240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304925 Phf3 PHD finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1304925 Phf3 PHD finger protein 3 gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:17011488|PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25491159|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27735924|PMID:28041643|PMID:28492532|PMID:28704921|PMID:28763560|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29641573|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31074760|PMID:31144483|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:34178978 1304925 Phf3 PHD finger protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31074760|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32037395|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:33749171|PMID:34178978 1304925 Phf3 PHD finger protein 3 gene DOID:1059 intellectual disability ISO RGD:1312646 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1304925 Phf3 PHD finger protein 3 gene DOID:11782 astigmatism ISO RGD:1312646 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 1304925 Phf3 PHD finger protein 3 gene DOID:630 genetic disease ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304925 Phf3 PHD finger protein 3 gene DOID:8501 fundus dystrophy ISO RGD:1312646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26872967|PMID:27208204|PMID:28492532|PMID:28704921|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30718709|PMID:31074760|PMID:31213501|PMID:31725169|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32728228|PMID:33749171 1304925 Phf3 PHD finger protein 3 gene DOID:9000343 Vision Disorders ISO RGD:1312646 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 1304925 Phf3 PHD finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:234 colon adenocarcinoma ISO RGD:1312648 D RGD:5135276|PMID:6722784 20211118 RGD 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:2729 dyskeratosis congenita ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669|PMID:9536098 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:3905 lung carcinoma ISO RGD:1614154 D RGD:5135276|PMID:6722784 20211118 RGD 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:4450 renal cell carcinoma ISO RGD:1312648 D RGD:5135276|PMID:6722784 20211118 RGD 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:630 genetic disease ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma IEP D RGD:5135276|PMID:6722784 20110719 RGD protein:increased activity:hepatoma (rat) 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:22267198|PMID:22387016|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1312648 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 1304926 Pfas phosphoribosylformylglycinamidine synthase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135485|PMID:3043317 20110722 RGD protein:increased activity:liver (rat) 1304927 Fam135a family with sequence similarity 135, member A gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1312650 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy 1304927 Fam135a family with sequence similarity 135, member A gene DOID:630 genetic disease ISO RGD:1312650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304928 Hmx1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 1304928 Hmx1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:7240710 20130221 OMIM 1304928 Hmx1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculoauricular syndrome PMID:18423520|PMID:25574057|PMID:25741868|PMID:28492532 1304928 Hmx1 H6 family homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1312652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 1304928 Hmx1 H6 family homeobox 1 gene DOID:630 genetic disease ISO RGD:1312652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304928 Hmx1 H6 family homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 1304929 Rubcnl rubicon like autophagy enhancer gene DOID:10283 prostate cancer ISO RGD:1312654 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304929 Rubcnl rubicon like autophagy enhancer gene DOID:630 genetic disease ISO RGD:1312654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304930 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352659 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1304930 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1059 intellectual disability ISO RGD:1352659 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304930 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1304930 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1304930 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1304930 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1304931 Perm1 PPARGC1 and ESRR induced regulator, muscle 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1304933 Pdcd11 programmed cell death 11 gene DOID:630 genetic disease ISO RGD:1354347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304934 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1304934 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1304934 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344939 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304934 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1344939 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304934 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344939 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304934 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:630 genetic disease ISO RGD:1344939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304935 Plekhh2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:3883 Lynch syndrome ISO RGD:1351016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1304935 Plekhh2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:630 genetic disease ISO RGD:1351016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304936 Mtfr1 mitochondrial fission regulator 1 gene DOID:630 genetic disease ISO RGD:1605712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304938 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304938 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:10283 prostate cancer ISO RGD:1347923 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1304938 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1304938 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1347923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304938 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347923 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304938 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304939 Exoc1 exocyst complex component 1 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1312667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1304939 Exoc1 exocyst complex component 1 gene DOID:630 genetic disease ISO RGD:1312667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304940 Atf7 activating transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312669 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304940 Atf7 activating transcription factor 7 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312669 D RGD:11055686|PMID:26148593 20170918 RGD 1304941 Hipk1 homeodomain interacting protein kinase 1 gene DOID:0080690 RASopathy ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1304941 Hipk1 homeodomain interacting protein kinase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1304941 Hipk1 homeodomain interacting protein kinase 1 gene DOID:630 genetic disease ISO RGD:1312671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304941 Hipk1 homeodomain interacting protein kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312671 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1304942 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1304942 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:2843 long QT syndrome ISO RGD:1312673 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1304942 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1312673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304942 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:9000918 Disease Progression ISO RGD:1312673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1304943 Lrp12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:7240710 20200722 OMIM 1304943 Lrp12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculopharyngodistal myopathy 1 PMID:25741868 1304943 Lrp12 LDL receptor related protein 12 gene DOID:0111590 Cohen syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1304943 Lrp12 LDL receptor related protein 12 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1312675 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31332380 1304943 Lrp12 LDL receptor related protein 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312675 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 PMID:25741868 1304943 Lrp12 LDL receptor related protein 12 gene DOID:630 genetic disease ISO RGD:1312675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304945 Ddx17 DEAD-box helicase 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1304945 Ddx17 DEAD-box helicase 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1304945 Ddx17 DEAD-box helicase 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1304945 Ddx17 DEAD-box helicase 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:1070 primary open angle glaucoma ISO RGD:1312685 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:27896285 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:630 genetic disease ISO RGD:1312685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:7240710 20211201 OMIM 1304949 Card10 caspase recruitment domain family, member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Immunodeficiency 89 and autoimmunity PMID:32238915 1304950 Il21r interleukin 21 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1312687 D RGD:6892935|PMID:19322899 20120817 RGD protein:increased expression:gut mucosa,leukocytes, mononuclear 1304950 Il21r interleukin 21 receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312687 D RGD:1600111|PMID:11821949 20070228 RGD diffuse large B-cell lymphoma 1304950 Il21r interleukin 21 receptor gene DOID:0081267 graft-versus-host disease ISO RDG:1312688 D RGD:6892927|PMID:21596854 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:0111946 immunodeficiency 31C ISO RGD:1312687 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31C PMID:25741868 1304950 Il21r interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:7240710 20140911 OMIM 1304950 Il21r interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IL21R immunodeficiency PMID:16199547|PMID:17576681|PMID:22235133|PMID:23440042|PMID:24033266|PMID:25398835|PMID:25741868|PMID:26193622|PMID:28492532|PMID:33929673|PMID:9536098 1304950 Il21r interleukin 21 receptor gene DOID:12155 lymphocytic choriomeningitis ISO RDG:1312688 D RGD:6892934|PMID:19478140 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:12177 common variable immunodeficiency ISO RGD:1312687 D RGD:6892941|PMID:18254984 20120817 RGD DNA:SNPs:exons: 1304950 Il21r interleukin 21 receptor gene DOID:13141 uveitis ISO RDG:1312688 D RGD:6892928|PMID:21593413 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:13141 uveitis ISO RDG:1312688 D RGD:6892932|PMID:20057909 20120816 RGD mRNA, protein:increased expression:lymph node, spleen 1304950 Il21r interleukin 21 receptor gene DOID:13241 Behcet's disease ISO RGD:1312687 D RGD:6892926|PMID:21724243 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:13375 temporal arteritis ISO RGD:1312687 D RGD:6892962|PMID:22147555 20120821 RGD 1304950 Il21r interleukin 21 receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1304950 Il21r interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:6892695|PMID:20072140 20120813 RGD DNA:polymorphisms: : 1304950 Il21r interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:6892963|PMID:21281812 20120821 RGD 1304950 Il21r interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RDG:1312688 D RGD:6892938|PMID:19075398 20120817 RGD 1304950 Il21r interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312687 D RGD:6892938|PMID:19075398 20120817 RGD protein:increased expression:skin 1304950 Il21r interleukin 21 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1312687 D RGD:6892924|PMID:22530560 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:630 genetic disease ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22235133|PMID:25741868|PMID:28492532 1304950 Il21r interleukin 21 receptor gene DOID:707 B-cell lymphoma ISO RGD:1312687 D RGD:1600111|PMID:11821949 20070228 RGD diffuse large B-cell lymphoma 1304950 Il21r interleukin 21 receptor gene DOID:7148 rheumatoid arthritis ISO RDG:1312688 D RGD:6892964|PMID:19342640 20120821 RGD 1304950 Il21r interleukin 21 receptor gene DOID:820 myocarditis no_association ISO RDG:1312688 D RGD:6892939|PMID:18546146 20120817 RGD 1304950 Il21r interleukin 21 receptor gene DOID:8778 Crohn's disease ISO RGD:1312687 D RGD:6482789|PMID:22021194 20120816 RGD DNA:altered methylation: : 1304950 Il21r interleukin 21 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RDG:1312688 D RGD:6892942|PMID:17920666 20120817 RGD 1304950 Il21r interleukin 21 receptor gene DOID:9001953 Pneumovirus Infections ISO RDG:1312688 D RGD:6892925|PMID:22238461 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RDG:1312688 D RGD:6892940|PMID:18353312 20120817 RGD 1304950 Il21r interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RDG:1312688 D RGD:6892939|PMID:18546146 20120817 RGD 1304950 Il21r interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:7240710 20130221 OMIM 1304950 Il21r interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic | ClinVar Annotator: match by term: Ige, elevated level of PMID:12700598|PMID:25741868|PMID:28492532 1304950 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RDG:1312688 D RGD:6892931|PMID:20424514 20120816 RGD 1304950 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RDG:1312688 D RGD:6892937|PMID:19164519 20120817 RGD 1304950 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17911475 1304950 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:6892933|PMID:19644854 20120816 RGD DNA:polymorphism: : rs3093301 (human) 1304950 Il21r interleukin 21 receptor gene DOID:9744 type 1 diabetes mellitus ISO RDG:1312688 D RGD:6892930|PMID:19208913 20120816 RGD 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606567 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1606567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:11372 megacolon ISO RGD:1606567 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606567 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:1826 epilepsy ISO RGD:1606567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:5419 schizophrenia ISO RGD:1606567 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:630 genetic disease ISO RGD:1606567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606567 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:9007661 Dwarfism ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1304951 Tssk2 testis-specific serine kinase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1304952 Pianp PILR alpha associated neural protein gene DOID:0060041 autism spectrum disorder ISS RGD:1312691 D RGD:13592920 20210902 MouseDO 1304952 Pianp PILR alpha associated neural protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1304952 Pianp PILR alpha associated neural protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606434 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1304952 Pianp PILR alpha associated neural protein gene DOID:0111621 Temtamy syndrome ISO RGD:1606434 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1304952 Pianp PILR alpha associated neural protein gene DOID:630 genetic disease ISO RGD:1606434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304952 Pianp PILR alpha associated neural protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606434 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:0111940 immunodeficiency 42 ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:1540 parathyroid carcinoma ISO RGD:1604756 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:5812 MHC class II deficiency ISO RGD:1604756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:630 genetic disease ISO RGD:1604756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304953 Tsacc TSSK6 activating co-chaperone gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604756 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1304954 Pold2 DNA polymerase delta 2, accessory subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312693 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304954 Pold2 DNA polymerase delta 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304956 Ebf3 EBF transcription factor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1304956 Ebf3 EBF transcription factor 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346410 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1304956 Ebf3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:7240710 20190315 OMIM 1304956 Ebf3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043 1304956 Ebf3 EBF transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 1304956 Ebf3 EBF transcription factor 3 gene DOID:12143 neurogenic bladder ISO RGD:1346410 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neurogenic bladder PMID:28017373|PMID:32366537|PMID:33956416 1304956 Ebf3 EBF transcription factor 3 gene DOID:12859 choreatic disease ISO RGD:1346410 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 1304956 Ebf3 EBF transcription factor 3 gene DOID:13501 Moebius syndrome ISO RGD:1346410 D RGD:8554872 20161206 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1304956 Ebf3 EBF transcription factor 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 1304956 Ebf3 EBF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19627984|PMID:20300201|PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:7796816 1304956 Ebf3 EBF transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346410 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28017370|PMID:31952901|PMID:33956416 1304956 Ebf3 EBF transcription factor 3 gene DOID:9004866 Ataxia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 1304956 Ebf3 EBF transcription factor 3 gene DOID:9005466 Language Development Disorders ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 1304956 Ebf3 EBF transcription factor 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 1304956 Ebf3 EBF transcription factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:32581362|PMID:33956416|PMID:35340043 1304957 Atoh7 atonal bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1312698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304957 Atoh7 atonal bHLH transcription factor 7 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1312698 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:28492532|PMID:31696227 1304957 Atoh7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:7240710 20140226 OMIM 1304957 Atoh7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:11527934|PMID:21441919|PMID:21474777|PMID:22068589|PMID:22645276|PMID:28492532|PMID:9677055 1304958 Tbc1d19 TBC1 domain family, member 19 gene DOID:630 genetic disease ISO RGD:1343247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304959 Rdh13 retinol dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1312701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304959 Rdh13 retinol dehydrogenase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312701 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 1304959 Rdh13 retinol dehydrogenase 13 gene DOID:9005749 Necrosis ISO RGD:1312701 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 1304959 Rdh13 retinol dehydrogenase 13 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312701 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 1304960 Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 gene DOID:2234 focal epilepsy ISO RGD:1312703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1304960 Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1312703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304960 Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1304961 Wbp1 WW domain binding protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1304961 Wbp1 WW domain binding protein 1 gene DOID:543 dystonia ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1304961 Wbp1 WW domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1312705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304961 Wbp1 WW domain binding protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:7240710 20150708 OMIM 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 1 PMID:22607940|PMID:25051973|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30349989|PMID:32699352|PMID:34023347|PMID:34194004 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080778 transient infantile liver failure ISO RGD:1312707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1312707 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312707 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304962 Lars1 leucyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1304963 Pcare photoreceptor cilium actin regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:2298744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:28763557 1304963 Pcare photoreceptor cilium actin regulator gene DOID:0050817 Stargardt disease ISO RGD:2298744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:20398884|PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:32312818|PMID:4543597 1304963 Pcare photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:7240710 20130425 OMIM 1304963 Pcare photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:31725702|PMID:31819343|PMID:31872526|PMID:32312818|PMID:33546218|PMID:33576794|PMID:4543597 1304963 Pcare photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218 1304963 Pcare photoreceptor cilium actin regulator gene DOID:8501 fundus dystrophy ISO RGD:2298744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20398886|PMID:21412943|PMID:23105016|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:33546218|PMID:33576794 1304963 Pcare photoreceptor cilium actin regulator gene DOID:9009095 Neuroblastoma 3 ISO RGD:2298744 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 1304964 Aifm2 apoptosis inducing factor, mitochondria associated 2 gene DOID:630 genetic disease ISO RGD:1312709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304965 Rhoc ras homolog family member C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1304965 Rhoc ras homolog family member C gene DOID:13938 amenorrhea ISO RGD:1312711 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1304965 Rhoc ras homolog family member C gene DOID:1612 breast cancer severity ISO RGD:1312711 D RGD:2298874|PMID:12237774 20080730 RGD protein:increased expression:breast 1304965 Rhoc ras homolog family member C gene DOID:4001 ovarian carcinoma ISO RGD:1312711 D RGD:2298873|PMID:12808121 20080729 RGD mRNA:increased expression:ovary 1304965 Rhoc ras homolog family member C gene DOID:630 genetic disease ISO RGD:1312711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304965 Rhoc ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:18230616 1304965 Rhoc ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:2298873|PMID:12808121 20080729 RGD associated with Ovarian Neoplasms 1304965 Rhoc ras homolog family member C gene DOID:9007102 Myocardial Ischemia ISO RGD:1312711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1304966 Cutc cutC copper transporter gene DOID:3652 Leigh disease ISO RGD:1312713 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leigh syndrome 1304966 Cutc cutC copper transporter gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312713 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 1304966 Cutc cutC copper transporter gene DOID:630 genetic disease ISO RGD:1312713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:11383 cryptorchidism ISO RGD:1312715 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:31010896 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:607 paraplegia ISO RGD:1312715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1312715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1312715 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:31010896 1304967 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:9008086 Developmental Disabilities ISO RGD:1312715 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31010896 1304968 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:7240710 20190605 OMIM 1304968 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 PMID:25741868|PMID:28640246|PMID:29522154|PMID:32227164 1304968 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1602488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1304968 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1602488 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304969 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24157261|PMID:25741868|PMID:26931382|PMID:27325525|PMID:28492532|PMID:28554332|PMID:34567092|PMID:9536098 1304969 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1304969 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 1304969 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1603258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 1304972 Stil STIL, centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:7240710 20141015 OMIM 1304972 Stil STIL, centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive PMID:18414213|PMID:19215732|PMID:20301772|PMID:22989186|PMID:23772360|PMID:24986681|PMID:25218063|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26548919|PMID:26633542|PMID:28492532|PMID:33132204 1304972 Stil STIL, centriolar assembly protein gene DOID:0080600 COVID-19 ISO RGD:1312720 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1304972 Stil STIL, centriolar assembly protein gene DOID:1059 intellectual disability ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1304972 Stil STIL, centriolar assembly protein gene DOID:10907 microcephaly ISO RGD:1312720 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 1304972 Stil STIL, centriolar assembly protein gene DOID:11367 congenital aphakia ISO RGD:1312720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 1304972 Stil STIL, centriolar assembly protein gene DOID:2661 myoepithelioma ISO RGD:1312720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1304972 Stil STIL, centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1312720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23772360|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532 1304973 Mospd3 motile sperm domain containing 3 gene DOID:1682 congenital heart disease ISO RGD:1312723 D RGD:1582660|PMID:15533722 20061116 RGD 1304973 Mospd3 motile sperm domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312722 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1304973 Mospd3 motile sperm domain containing 3 gene DOID:630 genetic disease ISO RGD:1312722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1312725 D RGD:151660337|PMID:26629180 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1312725 D RGD:151361290|PMID:26035306 20220302 RGD DNA:SNP:intron: (rs3748522) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:10155 intestinal cancer disease_progression ISO RGD:1312726 D RGD:151361160|PMID:27984746 20220225 RGD 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:151660351|PMID:18449888 20220304 RGD DNA:SNP,haplotype: 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:151660503|PMID:22382497 20220307 RGD DNA:SNP: (rs4766394) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:1749 squamous cell carcinoma ISO RGD:1312725 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:219 colon cancer susceptibility ISO RGD:1312725 D RGD:151361212|PMID:26735576 20220301 RGD DNA:SNPs:3'utr: (rs1051669, rs11571475) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1312726 D RGD:151660334|PMID:28415565 20220303 RGD 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1312725 D RGD:151660345|PMID:22585858 20220303 RGD DNA:SNP: (rs6489769) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1312725 D RGD:151660355|PMID:32401173 20220307 RGD DNA:SNPs,haplotype:multiple 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1312725 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:4531 mucoepidermoid carcinoma susceptibility ISO RGD:1312725 D RGD:151361290|PMID:26035306 20220302 RGD DNA:SNP:intron: (rs3748522) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1312725 D RGD:151660337|PMID:26629180 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1312725 D RGD:151660339|PMID:27531263 20220303 RGD DNA:SNP: (rs10774474)(human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma onset ISO RGD:1312725 D RGD:151361207|PMID:31719794 20220228 RGD mRNA,protein:increased expression:liver (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312725 D RGD:151361199|PMID:24729511 20220228 RGD associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1312725 D RGD:151361161|PMID:29245274 20220225 RGD associated with colorectal cancer; DNA:SNP:3'utr: (rs7963551) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:9005172 Lung Neoplasms ISO RGD:1312725 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312725 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer onset ISO RGD:1312725 D RGD:151361161|PMID:29245274 20220225 RGD DNA:SNP,haplotypes:3'utr: (rs1051669) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer susceptibility ISO RGD:1312725 D RGD:151361212|PMID:26735576 20220301 RGD DNA:SNPs:3'utr: (rs7963551, rs11226) (human) 1304975 Rad52 RAD52 homolog, DNA repair protein gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1312725 D RGD:151361208|PMID:25026830 20220301 RGD protein:increased expression:nasopharynx (human) 1304976 Cimap1c ciliary microtubule associated protein 1C gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1348133 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 1304976 Cimap1c ciliary microtubule associated protein 1C gene DOID:1826 epilepsy ISO RGD:1348133 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1304976 Cimap1c ciliary microtubule associated protein 1C gene DOID:2717 Bloom syndrome ISO RGD:1348133 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304976 Cimap1c ciliary microtubule associated protein 1C gene DOID:5419 schizophrenia ISO RGD:1348133 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304976 Cimap1c ciliary microtubule associated protein 1C gene DOID:630 genetic disease ISO RGD:1348133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304976 Cimap1c ciliary microtubule associated protein 1C gene DOID:9256 colorectal cancer ISO RGD:1348133 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304977 Nup214 nucleoporin 214 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1304977 Nup214 nucleoporin 214 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1316779 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1304977 Nup214 nucleoporin 214 gene DOID:10907 microcephaly ISO RGD:1316779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868|PMID:31178128 1304977 Nup214 nucleoporin 214 gene DOID:630 genetic disease ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1304977 Nup214 nucleoporin 214 gene DOID:9001487 Facies ISO RGD:1316779 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism 1304977 Nup214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:7240710 20230505 OMIM 1304977 Nup214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 PMID:25741868|PMID:30758658|PMID:31178128 1304977 Nup214 nucleoporin 214 gene DOID:9006257 Growth Disorders ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 1304977 Nup214 nucleoporin 214 gene DOID:9008086 Developmental Disabilities ISO RGD:1316779 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Developmental delay 1304977 Nup214 nucleoporin 214 gene DOID:9008582 Developmental Disease ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1304977 Nup214 nucleoporin 214 gene DOID:9119 acute myeloid leukemia ISO RGD:1316779 D RGD:7240710 20130221 OMIM 1304977 Nup214 nucleoporin 214 gene DOID:936 brain disease ISO RGD:1316779 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1304977 Nup214 nucleoporin 214 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316779 D RGD:7240710 20230505 OMIM 1304978 Mettl15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine gene DOID:1059 intellectual disability ISO RGD:1604216 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304978 Mettl15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine gene DOID:630 genetic disease ISO RGD:1604216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1312730 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312730 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35022897 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1312730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25485838 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1312730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:25675982|PMID:25741868|PMID:25942478|PMID:28492532 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1312730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25485838 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1312730 D RGD:7240710 20190315 OMIM 1304979 Usp8 ubiquitin specific peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1312730 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0060863 patterned macular dystrophy ISO RGD:1312732 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:7240710 20190315 OMIM 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 3 PMID:26744326 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:12365 malaria ISO RGD:1312732 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:399 tuberculosis ISO RGD:1312732 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:1312732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304980 Mapkapk3 MAPK activated protein kinase 3 gene DOID:9005036 Bacteremia ISO RGD:1312732 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 1304981 Lpxn leupaxin gene DOID:1059 intellectual disability ISO RGD:1312734 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304981 Lpxn leupaxin gene DOID:630 genetic disease ISO RGD:1312734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304981 Lpxn leupaxin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1312738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0050770 polycystic liver disease ISO RGD:1312738 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0050770 polycystic liver disease ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:20095989|PMID:25741868 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:1312738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0080322 polycystic kidney disease ISO RGD:1312738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:630 genetic disease ISO RGD:1312738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:20095989|PMID:25741868|PMID:28492532 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:14402049|PMID:15133510 20190528 RGD DNA:mutations:multiple 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:7240710 20190315 OMIM 1304984 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 2 PMID:15133510|PMID:17576681|PMID:20095989|PMID:24033266|PMID:25741868|PMID:28375157|PMID:28492532|PMID:9536098 1304985 Nkx2-4 NK2 homeobox 4 gene DOID:630 genetic disease ISO RGD:1343785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304986 Wfdc5 WAP four-disulfide core domain 5 gene DOID:2234 focal epilepsy ISO RGD:1312741 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1304986 Wfdc5 WAP four-disulfide core domain 5 gene DOID:630 genetic disease ISO RGD:1312741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304986 Wfdc5 WAP four-disulfide core domain 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1304988 Wnt10b Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:7240710 20130221 OMIM 1304988 Wnt10b Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 6 PMID:12072797|PMID:18515319|PMID:20635353|PMID:25741868|PMID:28492532 1304988 Wnt10b Wnt family member 10B gene DOID:630 genetic disease ISO RGD:1312744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1304988 Wnt10b Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:7240710 20190315 OMIM 1304988 Wnt10b Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 8 PMID:25741868|PMID:27321946|PMID:28492532 1304988 Wnt10b Wnt family member 10B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312744 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1304988 Wnt10b Wnt family member 10B gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1312744 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1304988 Wnt10b Wnt family member 10B gene DOID:9008939 Breast Neoplasms ISO RGD:1312744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12437293 1304988 Wnt10b Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312744 D RGD:2300029|PMID:16477437 20080829 RGD 1304988 Wnt10b Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312745 D RGD:2326237|PMID:17578883 20100701 RGD 1304990 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1304990 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:1826 epilepsy ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1304990 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312748 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1304990 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:630 genetic disease ISO RGD:1312748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304991 Thoc5 THO complex subunit 5 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1349222 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1304991 Thoc5 THO complex subunit 5 gene DOID:2355 anemia ISO RGD:1312750 D RGD:2317224|PMID:20051105 20100322 RGD 1304991 Thoc5 THO complex subunit 5 gene DOID:3459 breast carcinoma ISO RGD:1349222 D RGD:2317225|PMID:16959974 20100322 RGD DNA:missense mutations:cds:c.1139C>A, c.1495G>A (human) 1304991 Thoc5 THO complex subunit 5 gene DOID:615 leukopenia ISO RGD:1312750 D RGD:2317224|PMID:20051105 20100322 RGD 1304991 Thoc5 THO complex subunit 5 gene DOID:630 genetic disease ISO RGD:1349222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304991 Thoc5 THO complex subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1304992 Fkbp3 FKBP prolyl isomerase 3 gene DOID:13636 Fanconi anemia ISO RGD:1312751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 1304992 Fkbp3 FKBP prolyl isomerase 3 gene DOID:630 genetic disease ISO RGD:1312751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304992 Fkbp3 FKBP prolyl isomerase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1304993 Drg1 developmentally regulated GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1312753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304993 Drg1 developmentally regulated GTP binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312753 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1304993 Drg1 developmentally regulated GTP binding protein 1 gene DOID:9006836 Contracture ISO RGD:1312753 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1304994 Cebpz CCAAT/enhancer binding protein zeta gene DOID:0080690 RASopathy ISO RGD:1312755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1304994 Cebpz CCAAT/enhancer binding protein zeta gene DOID:630 genetic disease ISO RGD:1312755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304995 Nek4 NIMA-related kinase 4 gene DOID:0060340 ciliopathy ISO RGD:1312757 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Ciliopathy 1304995 Nek4 NIMA-related kinase 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1304995 Nek4 NIMA-related kinase 4 gene DOID:630 genetic disease ISO RGD:1312757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304996 Kif1a kinesin family member 1A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:32935419|PMID:33880452 1304996 Kif1a kinesin family member 1A gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1312759 D RGD:12911225|PMID:21820098 20170710 RGD DNA:frameshift mutations:exon:p.Leu947Argfs¿¿¿4 (c.2840delT), p.Ser1758Glnfs¿¿¿7 (c.5271dupC) (human) 1304996 Kif1a kinesin family member 1A gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1312759 D RGD:12911226|PMID:25265257 20170710 RGD DNA:missense mutations: :multiple 1304996 Kif1a kinesin family member 1A gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1312759 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:26467025|PMID:28492532 1304996 Kif1a kinesin family member 1A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 1304996 Kif1a kinesin family member 1A gene DOID:0050890 synucleinopathy IEP D RGD:11049591|PMID:19295143 20170713 RGD 1304996 Kif1a kinesin family member 1A gene DOID:0050952 spastic ataxia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1304996 Kif1a kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:7240710 20140911 OMIM 1304996 Kif1a kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT PMID:17576681|PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:31488895|PMID:31616253|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32165824|PMID:32746806|PMID:32860008|PMID:33753861|PMID:33880452|PMID:9536098 1304996 Kif1a kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:7240710 20140911 OMIM 1304996 Kif1a kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27034427|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28970574|PMID:29915382|PMID:31488895|PMID:31616253|PMID:9536098 1304996 Kif1a kinesin family member 1A gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1312759 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1304996 Kif1a kinesin family member 1A gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31616253|PMID:32096284|PMID:32860008 1304996 Kif1a kinesin family member 1A gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1312759 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:26467025|PMID:28492532 1304996 Kif1a kinesin family member 1A gene DOID:0080539 PEHO syndrome ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 1304996 Kif1a kinesin family member 1A gene DOID:0081120 Graves ophthalmopathy ISO RGD:1312759 D RGD:12911230|PMID:26451909 20170710 RGD 1304996 Kif1a kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:12911224|PMID:22258533 20170710 RGD DNA:missense mutations: :p.A255V, p.R350G (human) 1304996 Kif1a kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:12911228|PMID:21487076 20170710 RGD DNA:missense mutation: :p.A255V (human) 1304996 Kif1a kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:7240710 20130731 OMIM 1304996 Kif1a kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive PMID:16081310|PMID:16199547|PMID:16434418|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21376300|PMID:21384162|PMID:21487076|PMID:21820098|PMID:22258533|PMID:24088041|PMID:24715439|PMID:25140959|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25585697|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26633545|PMID:26752160|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28362824|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29915382|PMID:29934652|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30848064|PMID:31227335|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31628766|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32165824|PMID:32746806|PMID:32860008|PMID:32935419|PMID:33753861|PMID:33880452|PMID:34354735|PMID:34487232|PMID:34782662|PMID:9536098 1304996 Kif1a kinesin family member 1A gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1304996 Kif1a kinesin family member 1A gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1312759 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1304996 Kif1a kinesin family member 1A gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1312759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1304996 Kif1a kinesin family member 1A gene DOID:1059 intellectual disability ISO RGD:1312759 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26077850|PMID:26467025|PMID:28492532 1304996 Kif1a kinesin family member 1A gene DOID:12849 autistic disorder ISO RGD:1312759 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 1304996 Kif1a kinesin family member 1A gene DOID:1826 epilepsy ISO RGD:1312759 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1304996 Kif1a kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:12911231|PMID:28362824 20170710 RGD DNA:missense mutations: :p.V8M, p.I27T (human) 1304996 Kif1a kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:32096284|PMID:32860008 1304996 Kif1a kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452 1304996 Kif1a kinesin family member 1A gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312759 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 1304996 Kif1a kinesin family member 1A gene DOID:607 paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:24088041|PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28554332|PMID:28834584|PMID:32935419|PMID:33880452|PMID:9536098 1304996 Kif1a kinesin family member 1A gene DOID:630 genetic disease ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21376300|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29589274|PMID:29590070|PMID:29915382|PMID:30564185|PMID:31488895|PMID:31628766|PMID:31805580|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098 1304996 Kif1a kinesin family member 1A gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1304996 Kif1a kinesin family member 1A gene DOID:9005219 Abnormal Reflexes ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868|PMID:28492532|PMID:31488895 1304996 Kif1a kinesin family member 1A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11059542|PMID:23776493 20160415 RGD mRNA:increased expression:hippocampus 1304996 Kif1a kinesin family member 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1312759 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 1304996 Kif1a kinesin family member 1A gene DOID:9008582 Developmental Disease ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1304996 Kif1a kinesin family member 1A gene DOID:9351 diabetes mellitus ISO RGD:1312759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 1304997 Sec61b SEC61 translocon subunit beta gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1304997 Sec61b SEC61 translocon subunit beta gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1304997 Sec61b SEC61 translocon subunit beta gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1304997 Sec61b SEC61 translocon subunit beta gene DOID:1059 intellectual disability ISO RGD:1312761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1304997 Sec61b SEC61 translocon subunit beta gene DOID:12712 nephronophthisis ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1304997 Sec61b SEC61 translocon subunit beta gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1304997 Sec61b SEC61 translocon subunit beta gene DOID:630 genetic disease ISO RGD:1312761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1304999 Fam161a FAM161 centrosomal protein A gene DOID:0050572 cone-rod dystrophy ISO RGD:2293814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:20705278|PMID:20705279|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26574802|PMID:28492532|PMID:30718709 1304999 Fam161a FAM161 centrosomal protein A gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2293814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 1304999 Fam161a FAM161 centrosomal protein A gene DOID:0110365 retinitis pigmentosa 28 ISO RGD:2293814 D RGD:7240710 20170726 OMIM 1304999 Fam161a FAM161 centrosomal protein A gene DOID:0110365 retinitis pigmentosa 28 ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 28 PMID:10507729|PMID:16199547|PMID:17576681|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28945494|PMID:30718709|PMID:31236346|PMID:9536098 1304999 Fam161a FAM161 centrosomal protein A gene DOID:10584 retinitis pigmentosa ISO RGD:2293814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10507729|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:28041643|PMID:28492532|PMID:28945494|PMID:30718709 1304999 Fam161a FAM161 centrosomal protein A gene DOID:5419 schizophrenia ISO RGD:2293814 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1304999 Fam161a FAM161 centrosomal protein A gene DOID:630 genetic disease ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20705278|PMID:20705279|PMID:24651477|PMID:25741868|PMID:28492532 1304999 Fam161a FAM161 centrosomal protein A gene DOID:8501 fundus dystrophy ISO RGD:2293814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10507729|PMID:20705278|PMID:20705279|PMID:23591405|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:27208204|PMID:28492532|PMID:28945494|PMID:30718709 1305000 Cldn19 claudin 19 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1312766 D RGD:8554872 20180320 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 1305000 Cldn19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:7240710 20130221 OMIM 1305000 Cldn19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement PMID:17033971|PMID:18188451|PMID:22422540|PMID:23301036|PMID:25366522|PMID:25410674|PMID:25741868|PMID:27530400|PMID:28492532|PMID:28893421|PMID:33025205|PMID:33532864|PMID:34805638 1305000 Cldn19 claudin 19 gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:1312766 D RGD:8554872 20180320 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 1305000 Cldn19 claudin 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312766 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305000 Cldn19 claudin 19 gene DOID:12679 nephrocalcinosis ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421|PMID:33025205|PMID:34805638 1305000 Cldn19 claudin 19 gene DOID:630 genetic disease ISO RGD:1312766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305001 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:12849 autistic disorder ISO RGD:1347637 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305001 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:14330 Parkinson's disease ISS RGD:1553236 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 1305001 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:1826 epilepsy ISO RGD:1347637 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305001 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:5419 schizophrenia ISO RGD:1347637 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305001 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:630 genetic disease ISO RGD:1347637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305002 Ccng2 cyclin G2 gene DOID:11934 head and neck cancer ISO RGD:1312769 D RGD:151361200|PMID:27982046 20220228 RGD mRNA:decreased expression:head and neck (human) 1305002 Ccng2 cyclin G2 gene DOID:1993 rectum cancer ISO RGD:1312769 D RGD:151361200|PMID:27982046 20220228 RGD mRNA:decreased expression:colon,rectum (human) 1305002 Ccng2 cyclin G2 gene DOID:219 colon cancer ISO RGD:1312769 D RGD:151361200|PMID:27982046 20220228 RGD mRNA:decreased expression:colon,rectum (human) 1305002 Ccng2 cyclin G2 gene DOID:630 genetic disease ISO RGD:1312769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305002 Ccng2 cyclin G2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312770 D RGD:151361200|PMID:27982046 20220228 RGD 1305002 Ccng2 cyclin G2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1305002 Ccng2 cyclin G2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312770 D RGD:151361200|PMID:27982046 20220228 RGD 1305003 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1305003 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1305003 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:1312771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305003 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1305003 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:9263 homocystinuria ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1305003 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305004 Sfswap splicing factor SWAP gene DOID:0060041 autism spectrum disorder ISO RGD:1312773 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 1305004 Sfswap splicing factor SWAP gene DOID:630 genetic disease ISO RGD:1312773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305005 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1305005 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1305005 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:10603 glucose intolerance ISO RGD:1312775 D RGD:11554173 20180828 CTD CTD Direct Evidence: therapeutic PMID:29259128 1305005 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:12849 autistic disorder ISO RGD:1312775 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305005 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:630 genetic disease ISO RGD:1312775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305005 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 1305006 Gnl2 G protein nucleolar 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343978 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305006 Gnl2 G protein nucleolar 2 gene DOID:630 genetic disease ISO RGD:1343978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305007 Ogfod3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:1312779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:14749 methylmalonic acidemia ISO RGD:1312779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:289 endometriosis ISO RGD:1312779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:3910 lung adenocarcinoma ISO RGD:1312779 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1312779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9006205 Animal Disease Models ISO RGD:1312779 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305008 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9970 obesity ISO RGD:1312779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1305009 Dnajc9 DnaJ heat shock protein family (Hsp40) member C9 gene DOID:630 genetic disease ISO RGD:1312781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305010 C1qtnf3 C1q and TNF related 3 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 1305010 C1qtnf3 C1q and TNF related 3 gene DOID:630 genetic disease ISO RGD:1312783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305010 C1qtnf3 C1q and TNF related 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312783 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305012 Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1312787 D RGD:8554872 20171031 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 1305012 Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1312787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 1305012 Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1312787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 1305012 Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33004838 1305012 Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1312787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM PMID:23033978|PMID:25741868|PMID:28492532|PMID:29209020 1305012 Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312787 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305013 Tmem143 transmembrane protein 143 gene DOID:630 genetic disease ISO RGD:1602477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305014 C1h10orf88 similar to human chromosome 10 open reading frame 88 gene DOID:2340 craniosynostosis ISO RGD:1312790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1305014 C1h10orf88 similar to human chromosome 10 open reading frame 88 gene DOID:630 genetic disease ISO RGD:1312790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305015 Pabpc4 poly(A) binding protein, cytoplasmic 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312792 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305015 Pabpc4 poly(A) binding protein, cytoplasmic 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1312792 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305015 Pabpc4 poly(A) binding protein, cytoplasmic 4 gene DOID:630 genetic disease ISO RGD:1312792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305015 Pabpc4 poly(A) binding protein, cytoplasmic 4 gene DOID:9006205 Animal Disease Models ISO RGD:1312792 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312794 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1312794 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:630 genetic disease ISO RGD:1312794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:6420 pulmonary valve stenosis ISO RGD:1312794 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:8445 intestinal volvulus ISO RGD:1312794 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1312794 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312794 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305016 Pard6g par-6 family cell polarity regulator gamma gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312794 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1305017 Dhrsx dehydrogenase/reductase X-linked gene DOID:12849 autistic disorder ISO RGD:1344855 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305018 Wnt9a Wnt family member 9A gene DOID:1540 parathyroid carcinoma ISO RGD:1312797 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305018 Wnt9a Wnt family member 9A gene DOID:1612 breast cancer ISO RGD:1312797 D RGD:2299944|PMID:11713592 20080821 RGD 1305018 Wnt9a Wnt family member 9A gene DOID:1793 pancreatic cancer ISO RGD:1312797 D RGD:5490966|PMID:18772397 20140724 RGD DNA:mutations:exon 1305018 Wnt9a Wnt family member 9A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312797 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1305018 Wnt9a Wnt family member 9A gene DOID:630 genetic disease ISO RGD:1312797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305018 Wnt9a Wnt family member 9A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312797 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305019 Cerk ceramide kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312799 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1305019 Cerk ceramide kinase gene DOID:1059 intellectual disability ISO RGD:1312799 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305019 Cerk ceramide kinase gene DOID:630 genetic disease ISO RGD:1312799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305019 Cerk ceramide kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312799 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305020 Phf20 PHD finger protein 20 gene DOID:630 genetic disease ISO RGD:1605683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305020 Phf20 PHD finger protein 20 gene DOID:9007661 Dwarfism ISO RGD:1605683 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1305021 Ppfia2 PTPRF interacting protein alpha 2 gene DOID:630 genetic disease ISO RGD:1312803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305022 Heyl hes-related family bHLH transcription factor with YRPW motif-like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312805 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305022 Heyl hes-related family bHLH transcription factor with YRPW motif-like gene DOID:630 genetic disease ISO RGD:1312805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305022 Heyl hes-related family bHLH transcription factor with YRPW motif-like gene DOID:9006182 Carotid Artery Injuries IEP D RGD:625426|PMID:11971902 20150324 RGD 1305022 Heyl hes-related family bHLH transcription factor with YRPW motif-like gene DOID:9008939 Breast Neoplasms ISO RGD:1312805 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 1305023 Degs2 delta(4)-desaturase, sphingolipid 2 gene DOID:630 genetic disease ISO RGD:1352357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305025 Zfp575 zinc finger protein 575 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1305025 Zfp575 zinc finger protein 575 gene DOID:5419 schizophrenia ISO RGD:1312810 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305025 Zfp575 zinc finger protein 575 gene DOID:630 genetic disease ISO RGD:1312810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305026 Tnks2 tankyrase 2 gene DOID:630 genetic disease ISO RGD:1312811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305027 Sfmbt2 Scm-like with four mbt domains 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312812 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305027 Sfmbt2 Scm-like with four mbt domains 2 gene DOID:630 genetic disease ISO RGD:1312812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305028 Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305029 Il27ra interleukin 27 receptor subunit alpha gene DOID:10316 pneumoconiosis ISO RGD:1312815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1305029 Il27ra interleukin 27 receptor subunit alpha gene DOID:2841 asthma ISO RGD:1312816 D RGD:5128496|PMID:16081811 20110304 RGD 1305029 Il27ra interleukin 27 receptor subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1312816 D RGD:5128486|PMID:15749890 20110304 RGD 1305029 Il27ra interleukin 27 receptor subunit alpha gene DOID:418 systemic scleroderma ISO RGD:1312815 D RGD:5128477|PMID:20705635 20110304 RGD mRNA:increased expression:skin 1305029 Il27ra interleukin 27 receptor subunit alpha gene DOID:4483 rhinitis ISO RGD:1312816 D RGD:5128480|PMID:19354069 20110304 RGD 1305029 Il27ra interleukin 27 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1312815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1312817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1312817 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1312817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:630 genetic disease ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1312817 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 PMID:25741868 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1312817 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312817 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532 1305030 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312817 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305031 Vta1 vesicle trafficking 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1312819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1305031 Vta1 vesicle trafficking 1 gene DOID:630 genetic disease ISO RGD:1312819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0080600 COVID-19 ISO RGD:1312821 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32404436 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0080690 RASopathy ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1312821 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:1059 intellectual disability ISO RGD:1312821 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:630 genetic disease ISO RGD:1312821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:9001488 Human Influenza ISO RGD:1312821 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26889029 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312821 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305033 Tmprss4 transmembrane serine protease 4 gene DOID:9007661 Dwarfism ISO RGD:1312821 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305034 Net1 neuroepithelial cell transforming 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305034 Net1 neuroepithelial cell transforming 1 gene DOID:0080600 COVID-19 ISO RGD:1312823 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305034 Net1 neuroepithelial cell transforming 1 gene DOID:2843 long QT syndrome ISO RGD:1312823 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305034 Net1 neuroepithelial cell transforming 1 gene DOID:3070 high grade glioma ISO RGD:1312823 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1305034 Net1 neuroepithelial cell transforming 1 gene DOID:5419 schizophrenia ISO RGD:1312823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305034 Net1 neuroepithelial cell transforming 1 gene DOID:630 genetic disease ISO RGD:1312823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305035 Mmaa metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:7240710 20130221 OMIM 1305035 Mmaa metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16247646|PMID:17576681|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:23716945|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:27858373|PMID:28492532|PMID:28497574|PMID:29996803|PMID:31497484|PMID:31622506|PMID:32034731|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652|PMID:9536098 1305035 Mmaa metabolism of cobalamin associated A gene DOID:14749 methylmalonic acidemia ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16247646|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:28492532|PMID:28497574|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652 1305035 Mmaa metabolism of cobalamin associated A gene DOID:630 genetic disease ISO RGD:1312825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305035 Mmaa metabolism of cobalamin associated A gene DOID:83 cataract ISO RGD:1312825 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 1305035 Mmaa metabolism of cobalamin associated A gene DOID:9005835 Congenital Abnormalities ISO RGD:1312825 D RGD:1600803|PMID:15523652 20070327 RGD methylmalonic aciduria, OMIM:251100 1305036 Ints4 integrator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1603936 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305036 Ints4 integrator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305036 Ints4 integrator complex subunit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1305037 Baz2a bromodomain adjacent to zinc finger domain, 2A gene DOID:630 genetic disease ISO RGD:1312828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305037 Baz2a bromodomain adjacent to zinc finger domain, 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25485837 1305038 Plk5 polo-like kinase 5 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1305038 Plk5 polo-like kinase 5 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1305038 Plk5 polo-like kinase 5 gene DOID:5339 cyclic hematopoiesis ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1305038 Plk5 polo-like kinase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302687 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305039 Icam5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 1305039 Icam5 intercellular adhesion molecule 5 gene DOID:630 genetic disease ISO RGD:1312830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305039 Icam5 intercellular adhesion molecule 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 1305039 Icam5 intercellular adhesion molecule 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1305040 Six5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:7240710 20191106 OMIM 1305040 Six5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 2 PMID:17357085|PMID:21280147|PMID:24429398|PMID:25741868|PMID:26467025|PMID:27657687|PMID:28492532 1305040 Six5 SIX homeobox 5 gene DOID:14702 branchiootorenal syndrome ISO RGD:1312832 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism 1305040 Six5 SIX homeobox 5 gene DOID:630 genetic disease ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305041 Gimap6 GTPase, IMAP family member 6 gene DOID:2843 long QT syndrome ISO RGD:1603796 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1305041 Gimap6 GTPase, IMAP family member 6 gene DOID:612 primary immunodeficiency disease ISO RGD:1603796 D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: Primary Immune Deficiency PMID:25741868|PMID:33328581 1305041 Gimap6 GTPase, IMAP family member 6 gene DOID:630 genetic disease ISO RGD:1603796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305042 Snx22 sorting nexin 22 gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:1312835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:25741868|PMID:28492532|PMID:29620724 1305042 Snx22 sorting nexin 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312835 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1305042 Snx22 sorting nexin 22 gene DOID:12347 osteogenesis imperfecta ISO RGD:1312835 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:25741868|PMID:28492532 1305042 Snx22 sorting nexin 22 gene DOID:2717 Bloom syndrome ISO RGD:1312835 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305042 Snx22 sorting nexin 22 gene DOID:630 genetic disease ISO RGD:1312835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305042 Snx22 sorting nexin 22 gene DOID:9256 colorectal cancer ISO RGD:1312835 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305043 Clrn3 clarin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603923 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1305043 Clrn3 clarin 3 gene DOID:630 genetic disease ISO RGD:1603923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305044 Zan zonadhesin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312837 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305044 Zan zonadhesin gene DOID:630 genetic disease ISO RGD:1312837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305045 Emc7 ER membrane protein complex subunit 7 gene DOID:2717 Bloom syndrome ISO RGD:1312839 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305045 Emc7 ER membrane protein complex subunit 7 gene DOID:630 genetic disease ISO RGD:1312839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305045 Emc7 ER membrane protein complex subunit 7 gene DOID:9256 colorectal cancer ISO RGD:1312839 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305046 Stk11ip serine/threonine kinase 11 interacting protein gene DOID:1148 polydactyly ISO RGD:1312841 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1305046 Stk11ip serine/threonine kinase 11 interacting protein gene DOID:630 genetic disease ISO RGD:1312841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305046 Stk11ip serine/threonine kinase 11 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312841 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1312845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:7240710 20190315 OMIM 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 PMID:21107423|PMID:25741868|PMID:25741869|PMID:25741870|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1312845 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30664714 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1312845 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714 1305048 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312845 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741870|PMID:30664714 1305049 Fbxo16 F-box protein 16 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1305049 Fbxo16 F-box protein 16 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1305049 Fbxo16 F-box protein 16 gene DOID:630 genetic disease ISO RGD:1312847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305050 Chmp2a charged multivesicular body protein 2A gene DOID:630 genetic disease ISO RGD:1603659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305051 Aen apoptosis enhancing nuclease gene DOID:2717 Bloom syndrome ISO RGD:1601976 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305051 Aen apoptosis enhancing nuclease gene DOID:630 genetic disease ISO RGD:1601976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305051 Aen apoptosis enhancing nuclease gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305051 Aen apoptosis enhancing nuclease gene DOID:9256 colorectal cancer ISO RGD:1601976 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305052 Pgs1 phosphatidylglycerophosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1606322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305052 Pgs1 phosphatidylglycerophosphate synthase 1 gene DOID:9002189 High Myopia ISO RGD:1606322 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1305053 Arhgap18 Rho GTPase activating protein 18 gene DOID:5419 schizophrenia ISO RGD:1312852 D RGD:5686816|PMID:19065146 20120126 RGD DNA:SNPs:multiple 1305053 Arhgap18 Rho GTPase activating protein 18 gene DOID:630 genetic disease ISO RGD:1312852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305054 Dntt DNA nucleotidylexotransferase gene DOID:630 genetic disease ISO RGD:1312854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305054 Dntt DNA nucleotidylexotransferase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312854 D RGD:8694149|PMID:7020399 20140725 RGD protein:increased activity:peripheral blood,bone marrow: 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:0060346 Native American myopathy ISO RGD:1312856 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:24033266|PMID:25741868|PMID:28492532 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:0080690 RASopathy ISO RGD:1312856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis ISS RGD:1312857 D RGD:13592920 20180518 MouseDO OMIM:179830 | OMIM:267200 | OMIM:602722 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1312856 D RGD:1599383|PMID:10973252 20070201 RGD 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312856 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:630 genetic disease ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:7240710 20130221 OMIM 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss PMID:10973252|PMID:12414817|PMID:16611712|PMID:17576681|PMID:18632794|PMID:19364879|PMID:23754897|PMID:24033266|PMID:24252324|PMID:25741868|PMID:26208211|PMID:27247958|PMID:28188436|PMID:28492532|PMID:29024829|PMID:29202719|PMID:29311258|PMID:29398133|PMID:29627839|PMID:30230413|PMID:31589614|PMID:31738409|PMID:31959358|PMID:32613277|PMID:34159584|PMID:35738466|PMID:9536098 1305055 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 1305056 Angel2 angel homolog 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601837 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305056 Angel2 angel homolog 2 gene DOID:630 genetic disease ISO RGD:1601837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305056 Angel2 angel homolog 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601837 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305057 Nagk N-acetylglucosamine kinase gene DOID:543 dystonia ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1305057 Nagk N-acetylglucosamine kinase gene DOID:630 genetic disease ISO RGD:1312859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305057 Nagk N-acetylglucosamine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1305057 Nagk N-acetylglucosamine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1305057 Nagk N-acetylglucosamine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305057 Nagk N-acetylglucosamine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1305058 Rab34 RAB34, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305059 Rbm5 RNA binding motif protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1305059 Rbm5 RNA binding motif protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1305059 Rbm5 RNA binding motif protein 5 gene DOID:630 genetic disease ISO RGD:1312863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305059 Rbm5 RNA binding motif protein 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312863 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1305059 Rbm5 RNA binding motif protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305060 Ctnna2 catenin alpha 2 gene DOID:0050453 lissencephaly ISO RGD:1312865 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30013181 1305060 Ctnna2 catenin alpha 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312865 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1305060 Ctnna2 catenin alpha 2 gene DOID:630 genetic disease ISO RGD:1312865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305060 Ctnna2 catenin alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 1305060 Ctnna2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:7240710 20190315 OMIM 1305060 Ctnna2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 PMID:25741868|PMID:30013181 1305061 Tppp3 tubulin polymerization-promoting protein family member 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1305061 Tppp3 tubulin polymerization-promoting protein family member 3 gene DOID:630 genetic disease ISO RGD:1604620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305062 Rwdd2b RWD domain containing 2B gene DOID:630 genetic disease ISO RGD:1312868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305063 Rab11fip4 RAB11 family interacting protein 4 gene DOID:10283 prostate cancer ISO RGD:1348691 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305063 Rab11fip4 RAB11 family interacting protein 4 gene DOID:1969 cerebral palsy ISO RGD:1348691 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1305063 Rab11fip4 RAB11 family interacting protein 4 gene DOID:630 genetic disease ISO RGD:1348691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305063 Rab11fip4 RAB11 family interacting protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348691 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1305064 Scrn3 secernin 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312871 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1305064 Scrn3 secernin 3 gene DOID:630 genetic disease ISO RGD:1312871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305066 Tnfsf18 TNF superfamily member 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1312875 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305066 Tnfsf18 TNF superfamily member 18 gene DOID:3755 antithrombin III deficiency ISO RGD:1312875 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1305066 Tnfsf18 TNF superfamily member 18 gene DOID:630 genetic disease ISO RGD:1312875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305066 Tnfsf18 TNF superfamily member 18 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1305066 Tnfsf18 TNF superfamily member 18 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1305066 Tnfsf18 TNF superfamily member 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312875 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305067 Ube2j1 ubiquitin-conjugating enzyme E2, J1 gene DOID:0080600 COVID-19 ISO RGD:1312877 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1305067 Ube2j1 ubiquitin-conjugating enzyme E2, J1 gene DOID:630 genetic disease ISO RGD:1312877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305068 Ybx2 Y box binding protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305068 Ybx2 Y box binding protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1305068 Ybx2 Y box binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1606288 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1305068 Ybx2 Y box binding protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1606288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305068 Ybx2 Y box binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1606288 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1305068 Ybx2 Y box binding protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1305068 Ybx2 Y box binding protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606288 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1305068 Ybx2 Y box binding protein 2 gene DOID:630 genetic disease ISO RGD:1606288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305069 Smad6 SMAD family member 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312880 D RGD:152995482|PMID:31874165 20220624 RGD mRNA:decreased expression:blood plasma (human) 1305069 Smad6 SMAD family member 6 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1312880 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 PMID:28492532|PMID:30796334 1305069 Smad6 SMAD family member 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1312880 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30455415 1305069 Smad6 SMAD family member 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1312880 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 1305069 Smad6 SMAD family member 6 gene DOID:0080333 aortic valve disease 1 ISO RGD:1312880 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28492532|PMID:30796334 1305069 Smad6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1305069 Smad6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:7240710 20230517 OMIM 1305069 Smad6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:16199547|PMID:17576681|PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:28808027|PMID:30056620|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32005695|PMID:32499606|PMID:9536098 1305069 Smad6 SMAD family member 6 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1312880 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 1305069 Smad6 SMAD family member 6 gene DOID:10952 nephritis IEP D RGD:2315074|PMID:11170839 20091216 RGD mRNA:decreased expression:kidney 1305069 Smad6 SMAD family member 6 gene DOID:1148 polydactyly ISO RGD:1312880 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Polydactyly 1305069 Smad6 SMAD family member 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 1305069 Smad6 SMAD family member 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1305069 Smad6 SMAD family member 6 gene DOID:2340 craniosynostosis ISO RGD:1312880 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1305069 Smad6 SMAD family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1312880 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305069 Smad6 SMAD family member 6 gene DOID:630 genetic disease ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11739411|PMID:25741868|PMID:27606499|PMID:28492532|PMID:30796334|PMID:30848080 1305069 Smad6 SMAD family member 6 gene DOID:6432 pulmonary hypertension IEP D RGD:1643222|PMID:17347486 20091216 RGD mRNA:decreased expression:lung 1305069 Smad6 SMAD family member 6 gene DOID:9000082 Craniosynostosis 7 ISO RGD:1312880 D RGD:7240710 20230517 OMIM 1305069 Smad6 SMAD family member 6 gene DOID:9000082 Craniosynostosis 7 ISO RGD:1312880 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Craniosynostosis 7 PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:32499606 1305069 Smad6 SMAD family member 6 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2289036|PMID:17437042 20091216 RGD associated with Diabetes Mellitus, Experimental 1305069 Smad6 SMAD family member 6 gene DOID:9002589 Bone Fractures IEP D RGD:724455|PMID:11920662 20091216 RGD 1305069 Smad6 SMAD family member 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312880 D RGD:2300008|PMID:11078792 20091216 RGD DNA:polymorphism:intron (human) 1305069 Smad6 SMAD family member 6 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1312880 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1305069 Smad6 SMAD family member 6 gene DOID:9256 colorectal cancer ISO RGD:1312880 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305069 Smad6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:7240710 20230517 OMIM 1305069 Smad6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32748548 1305071 Dleu7 deleted in lymphocytic leukemia, 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605843 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1305071 Dleu7 deleted in lymphocytic leukemia, 7 gene DOID:1059 intellectual disability ISO RGD:1605843 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305071 Dleu7 deleted in lymphocytic leukemia, 7 gene DOID:630 genetic disease ISO RGD:1605843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:0050952 spastic ataxia ISO RGD:1606754 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISS RGD:1606754 D RGD:13592920 20190912 MouseDO OMIM:601152 | OMIM:616505 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:7240710 20210526 OMIM 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E PMID:25741868|PMID:26168012|PMID:27390132|PMID:27543974|PMID:28492532|PMID:28637197|PMID:28653766|PMID:8147499 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168012 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606754 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:5723 optic atrophy ISO RGD:1606754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168012 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:630 genetic disease ISO RGD:1606754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:32259769|PMID:33841295|PMID:9536098 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606754 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:7240710 20190911 OMIM 1305072 Slc25a46 solute carrier family 25, member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27430653|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:28653766|PMID:31607746|PMID:32259769|PMID:33369814|PMID:33816684|PMID:33841295|PMID:9536098 1305074 Trim69 tripartite motif-containing 69 gene DOID:0050712 AGAT deficiency ISO RGD:1312888 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1305074 Trim69 tripartite motif-containing 69 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312888 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1305074 Trim69 tripartite motif-containing 69 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1312888 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 1305074 Trim69 tripartite motif-containing 69 gene DOID:2717 Bloom syndrome ISO RGD:1312888 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305074 Trim69 tripartite motif-containing 69 gene DOID:630 genetic disease ISO RGD:1312888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305074 Trim69 tripartite motif-containing 69 gene DOID:9256 colorectal cancer ISO RGD:1312888 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305075 Rhbdf1 rhomboid 5 homolog 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1312890 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1305075 Rhbdf1 rhomboid 5 homolog 1 gene DOID:630 genetic disease ISO RGD:1312890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305076 Cdc16 cell division cycle 16 gene DOID:2222 factor X deficiency ISO RGD:1312892 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1305076 Cdc16 cell division cycle 16 gene DOID:630 genetic disease ISO RGD:1312892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1312894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:26167768|PMID:28492532 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312894 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:7240710 20190315 OMIM 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 33 PMID:25741868|PMID:26167768|PMID:28492532|PMID:29695797|PMID:30858804|PMID:31474318 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312894 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:630 genetic disease ISO RGD:1312894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:9000983 Encephalocele ISO RGD:1312894 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Cephalocele PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 1305077 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:9004410 Threatened Abortion ISO RGD:1312894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15760377 1305078 Sulf2 sulfatase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312895 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1305078 Sulf2 sulfatase 2 gene DOID:2234 focal epilepsy ISO RGD:1312895 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305078 Sulf2 sulfatase 2 gene DOID:289 endometriosis ISO RGD:1312895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 1305078 Sulf2 sulfatase 2 gene DOID:630 genetic disease ISO RGD:1312895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305079 Dse dermatan sulfate epimerase gene DOID:0060163 body dysmorphic disorder ISO RGD:1312897 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1305079 Dse dermatan sulfate epimerase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1312897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1305079 Dse dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:7240710 20140911 OMIM 1305079 Dse dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 PMID:23704329|PMID:25703627|PMID:25741868|PMID:28492532 1305079 Dse dermatan sulfate epimerase gene DOID:1059 intellectual disability ISO RGD:1312897 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1305079 Dse dermatan sulfate epimerase gene DOID:10907 microcephaly ISO RGD:1312897 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1305079 Dse dermatan sulfate epimerase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312897 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 1305079 Dse dermatan sulfate epimerase gene DOID:1826 epilepsy ISO RGD:1312897 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1305079 Dse dermatan sulfate epimerase gene DOID:630 genetic disease ISO RGD:1312897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305079 Dse dermatan sulfate epimerase gene DOID:9000495 Tremor ISO RGD:1312897 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1305079 Dse dermatan sulfate epimerase gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1312897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 1305080 Cdkl1 cyclin dependent kinase like 1 gene DOID:630 genetic disease ISO RGD:1312899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305081 Aif1l allograft inflammatory factor 1-like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305081 Aif1l allograft inflammatory factor 1-like gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1312901 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1305081 Aif1l allograft inflammatory factor 1-like gene DOID:1612 breast cancer severity ISO RGD:1312901 D RGD:13842475|PMID:30233209 20190129 RGD 1305081 Aif1l allograft inflammatory factor 1-like gene DOID:630 genetic disease ISO RGD:1312901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305083 Ro60 Ro60, Y RNA binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1312904 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305083 Ro60 Ro60, Y RNA binding protein gene DOID:630 genetic disease ISO RGD:1312904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305083 Ro60 Ro60, Y RNA binding protein gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1312904 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 1305083 Ro60 Ro60, Y RNA binding protein gene DOID:9074 systemic lupus erythematosus ISS RGD:1624075 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1305083 Ro60 Ro60, Y RNA binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312904 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305084 Zfp473 zinc finger protein 473 gene DOID:3007 breast ductal carcinoma ISO RGD:1352232 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1305084 Zfp473 zinc finger protein 473 gene DOID:630 genetic disease ISO RGD:1352232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305085 Matn3 matrilin 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1312907 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:25741868|PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1312907 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related PMID:11479597|PMID:12736871|PMID:12884427|PMID:13849708|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28146470|PMID:28492532|PMID:30080953|PMID:31724101 1305085 Matn3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 1305085 Matn3 matrilin 3 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:25741868|PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:25741868|PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 1305085 Matn3 matrilin 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1312907 D RGD:1599919|PMID:15121775 20070221 RGD 1305085 Matn3 matrilin 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1312907 D RGD:1599920|PMID:11479597 20070221 RGD 1305085 Matn3 matrilin 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 1305085 Matn3 matrilin 3 gene DOID:630 genetic disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:65 connective tissue disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12736871|PMID:14729835|PMID:25741868|PMID:28146470|PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:8398 osteoarthritis ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 PMID:12736871|PMID:14729835|PMID:25741868|PMID:28492532 1305085 Matn3 matrilin 3 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 1305085 Matn3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related PMID:14729835|PMID:15121775|PMID:15459972|PMID:20301302|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101 1305085 Matn3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type susceptibility ISO RGD:1312907 D RGD:7240710 20230517 OMIM 1305086 Kbtbd6 kelch repeat and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1346287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305087 Slc9b1 solute carrier family 9 member B1 gene DOID:0060224 atrial fibrillation ISO RGD:1605279 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1305087 Slc9b1 solute carrier family 9 member B1 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1605279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17846994|PMID:25056293|PMID:25741868|PMID:28492532 1305087 Slc9b1 solute carrier family 9 member B1 gene DOID:3633 beta-mannosidosis ISO RGD:1605279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1305087 Slc9b1 solute carrier family 9 member B1 gene DOID:630 genetic disease ISO RGD:1605279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305088 Purg purine-rich element binding protein G gene DOID:5688 Werner syndrome ISO RGD:1312911 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Werner syndrome 1305088 Purg purine-rich element binding protein G gene DOID:630 genetic disease ISO RGD:1312911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305089 Prorp protein only RNase P catalytic subunit gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1312913 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 1305089 Prorp protein only RNase P catalytic subunit gene DOID:0111921 spermatogenic failure 36 ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868 1305089 Prorp protein only RNase P catalytic subunit gene DOID:630 genetic disease ISO RGD:1312913 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9002704 Leukoencephalopathies ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9003326 Perrault Syndrome 1 ISO RGD:1312913 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9006756 Combined Oxidative Phosphorylation Deficiency 54 ISO RGD:1312913 D RGD:7240710 20220223 OMIM 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9006756 Combined Oxidative Phosphorylation Deficiency 54 ISO RGD:1312913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 PMID:25741868 1305089 Prorp protein only RNase P catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1312913 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Global developmental delay 1305090 Sh3d21 SH3 domain containing 21 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605948 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305090 Sh3d21 SH3 domain containing 21 gene DOID:630 genetic disease ISO RGD:1605948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305092 Lrrc59 leucine rich repeat containing 59 gene DOID:3068 glioblastoma ISO RGD:1605059 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1305092 Lrrc59 leucine rich repeat containing 59 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605059 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1305092 Lrrc59 leucine rich repeat containing 59 gene DOID:630 genetic disease ISO RGD:1605059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305092 Lrrc59 leucine rich repeat containing 59 gene DOID:684 hepatocellular carcinoma ISO RGD:1605059 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1305092 Lrrc59 leucine rich repeat containing 59 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605059 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1305092 Lrrc59 leucine rich repeat containing 59 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605059 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1305093 Mxd4 Max dimerization protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312919 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1305093 Mxd4 Max dimerization protein 4 gene DOID:1856 cherubism ISO RGD:1312919 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1305093 Mxd4 Max dimerization protein 4 gene DOID:630 genetic disease ISO RGD:1312919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305095 Fbxo24 F-box protein 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312922 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305095 Fbxo24 F-box protein 24 gene DOID:630 genetic disease ISO RGD:1312922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305096 Pdrg1 p53 and DNA damage regulated 1 gene DOID:630 genetic disease ISO RGD:1349373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305096 Pdrg1 p53 and DNA damage regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1349373 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1305097 Pcgf2 polycomb group ring finger 2 gene DOID:1059 intellectual disability ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 1305097 Pcgf2 polycomb group ring finger 2 gene DOID:630 genetic disease ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 1305097 Pcgf2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:7240710 20190424 OMIM 1305097 Pcgf2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Turnpenny-fry syndrome PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 1305097 Pcgf2 polycomb group ring finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:0050439 Usher syndrome ISO RGD:1604615 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604615 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22341971|PMID:22926781 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:7240710 20171011 OMIM 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis PMID:11040156|PMID:18392750|PMID:22341971|PMID:22341972|PMID:22934317|PMID:25741868|PMID:27117033|PMID:28492532|PMID:30272946|PMID:31594250|PMID:34315874 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:0080855 Parkinsonism ISO RGD:1604615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26220508 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:13580 cholestasis ISO RGD:1604615 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:14330 Parkinson's disease ISO RGD:1604615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25149416 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:1459 hypothyroidism ISO RGD:1604615 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1604615 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:5082 liver cirrhosis ISO RGD:1604615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:543 dystonia ISO RGD:1604615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:630 genetic disease ISO RGD:1604615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:8432 polycythemia ISO RGD:1604615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:9000304 Manganese Poisoning ISO RGD:1604615 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28860195|PMID:29429640 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 1305098 Slc30a10 solute carrier family 30, member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604615 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305099 Rufy1 RUN and FYVE domain containing 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1312929 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1305099 Rufy1 RUN and FYVE domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1312929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1305099 Rufy1 RUN and FYVE domain containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1312929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1305099 Rufy1 RUN and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1312929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305100 Pbx4 PBX homeobox 4 gene DOID:630 genetic disease ISO RGD:1345476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305100 Pbx4 PBX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:12849 autistic disorder ISO RGD:1344399 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:13938 amenorrhea ISO RGD:1344399 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:1700 X-linked ichthyosis ISO RGD:1344399 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:1969 cerebral palsy ISO RGD:1344399 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:5419 schizophrenia ISO RGD:1344399 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:543 dystonia ISO RGD:1344399 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1344399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305101 Pudp pseudouridine 5'-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344399 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305102 Scel sciellin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312935 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1305102 Scel sciellin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 1305102 Scel sciellin gene DOID:630 genetic disease ISO RGD:1312935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:28492532|PMID:35351988 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:12849 autistic disorder ISO RGD:1312937 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:303 substance-related disorder ISO RGD:1312937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:5419 schizophrenia ISO RGD:1312937 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:5419 schizophrenia ISS RGD:1312938 D RGD:13592920 20180518 MouseDO OMIM:181500 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:630 genetic disease ISO RGD:1312937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:670 amphetamine abuse ISO RGD:1312937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1312937 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305103 Csmd1 CUB and Sushi multiple domains 1 gene DOID:8893 psoriasis ISO RGD:1312937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 1305104 Ankrd2 ankyrin repeat domain 2 gene DOID:630 genetic disease ISO RGD:1312939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305105 Smyd1 SET and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1312941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312942 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:1059 intellectual disability ISO RGD:1312942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:543 dystonia ISO RGD:1312942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:6000 congestive heart failure ISO RGD:1312942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:630 genetic disease ISO RGD:1312942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:9007188 Liver Neoplasms ISO RGD:1312942 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 1305106 Cidea cell death-inducing DFFA-like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:1625390|PMID:16186410 20070606 RGD 1305107 Srpk2 SRSF protein kinase 2 gene DOID:3312 bipolar disorder ISO RGD:1312944 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1305107 Srpk2 SRSF protein kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312944 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305107 Srpk2 SRSF protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305108 Pcdhga7 protocadherin gamma subfamily A, 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312946 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1305108 Pcdhga7 protocadherin gamma subfamily A, 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312946 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305108 Pcdhga7 protocadherin gamma subfamily A, 7 gene DOID:630 genetic disease ISO RGD:1312946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305108 Pcdhga7 protocadherin gamma subfamily A, 7 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1312946 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1305108 Pcdhga7 protocadherin gamma subfamily A, 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312946 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305108 Pcdhga7 protocadherin gamma subfamily A, 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312946 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305109 Stom stomatin gene DOID:630 genetic disease ISO RGD:1312947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305110 Sanbr SANT and BTB domain regulator of CSR gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:19449432|PMID:28492532 1305110 Sanbr SANT and BTB domain regulator of CSR gene DOID:630 genetic disease ISO RGD:1606998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1312950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0080690 RASopathy ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:5419 schizophrenia ISO RGD:1312950 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:630 genetic disease ISO RGD:1312950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312950 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:9004657 Weight Gain ISO RGD:1312950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1305111 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:9007661 Dwarfism ISO RGD:1312950 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305112 Tex2 testis expressed 2 gene DOID:0080600 COVID-19 ISO RGD:1603633 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305112 Tex2 testis expressed 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603633 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1305112 Tex2 testis expressed 2 gene DOID:630 genetic disease ISO RGD:1603633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305113 Nubp2 NUBP iron-sulfur cluster assembly factor 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1305113 Nubp2 NUBP iron-sulfur cluster assembly factor 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305113 Nubp2 NUBP iron-sulfur cluster assembly factor 2 gene DOID:1826 epilepsy ISO RGD:1312953 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305113 Nubp2 NUBP iron-sulfur cluster assembly factor 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312953 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305113 Nubp2 NUBP iron-sulfur cluster assembly factor 2 gene DOID:630 genetic disease ISO RGD:1312953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305114 Mob1b MOB kinase activator 1B gene DOID:630 genetic disease ISO RGD:1312955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305114 Mob1b MOB kinase activator 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1312955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1305115 Hbe1 hemoglobin subunit epsilon 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312957 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1305115 Hbe1 hemoglobin subunit epsilon 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:1312957 D RGD:11353858|PMID:12124399 20160725 RGD 1305115 Hbe1 hemoglobin subunit epsilon 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:1312957 D RGD:11353860|PMID:23409025 20160725 RGD DNA:SNP: :rs7130110 (human) 1305115 Hbe1 hemoglobin subunit epsilon 1 gene DOID:630 genetic disease ISO RGD:1312957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305116 Churc1 churchill domain containing 1 gene DOID:630 genetic disease ISO RGD:1312958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305117 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1305117 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305117 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:1826 epilepsy ISO RGD:1312960 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305117 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312960 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305117 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:630 genetic disease ISO RGD:1312960 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305119 Daam1 dishevelled associated activator of morphogenesis 1 gene DOID:0060036 intrinsic cardiomyopathy ISS RGD:1312963 D RGD:13592920 20180518 MouseDO 1305119 Daam1 dishevelled associated activator of morphogenesis 1 gene DOID:1826 epilepsy ISO RGD:1346826 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1305119 Daam1 dishevelled associated activator of morphogenesis 1 gene DOID:630 genetic disease ISO RGD:1346826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305120 Dennd2d DENN domain containing 2D gene DOID:12849 autistic disorder ISO RGD:1602459 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305120 Dennd2d DENN domain containing 2D gene DOID:630 genetic disease ISO RGD:1602459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:0050777 Joubert syndrome ISO RGD:1625089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:0050778 Meckel syndrome ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:0070115 Meckel syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1625089 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:0111112 nephronophthisis 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:12712 nephronophthisis ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:1909 melanoma ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23455637 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:4450 renal cell carcinoma treatment ISO RGD:1625089 D RGD:329812005|PMID:30648791 20230519 RGD 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1625089 D RGD:329812006|PMID:32817424 20230519 RGD mRNA:increased expression:kidney 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1625089 D RGD:329812005|PMID:30648791 20230519 RGD mRNA:decreased expression:kidney 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma treatment ISO RGD:1625089 D RGD:329812006|PMID:32817424 20230519 RGD 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1621572 D RGD:329812009|PMID:29997116 20230519 RGD mRNA, protein:decreased expression:heart 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction treatment ISO RGD:1621572 D RGD:329812009|PMID:29997116 20230519 RGD 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1625089 D RGD:329812009|PMID:29997116 20230519 RGD mRNA, protein:decreased expression:heart 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1625089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9002211 Hyperalgesia treatment ISO RGD:1621572 D RGD:329812008|PMID:34102854 20230519 RGD associated with Cerebral Hemorrhage 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1621572 D RGD:329812008|PMID:34102854 20230519 RGD protein:increased expression:thalamic complex 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:7240710 20230517 OMIM 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:19559399|PMID:19833892|PMID:20299471|PMID:23505181|PMID:23825611|PMID:24289790|PMID:25741868|PMID:26378117|PMID:26820768|PMID:27105045|PMID:28492532 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9004657 Weight Gain ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9007633 Body Weight ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9008939 Breast Neoplasms ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17496892|PMID:19079260|PMID:19079261|PMID:19151714|PMID:19918250|PMID:21076408 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:329812007|PMID:23134754 20230519 RGD DNA:SNP:intron:rs9939609 (human) 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:329812010|PMID:23111453 20230519 RGD DNA:SNP: :rs9939609 (human) 1305121 Fto FTO, alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:7240710 20230517 OMIM 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1312969 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:1059 intellectual disability ISO RGD:1312969 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:5419 schizophrenia ISO RGD:1312969 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:630 genetic disease ISO RGD:1312969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312969 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305123 Tbrg1 transforming growth factor beta regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1312969 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305124 Cilp cartilage intermediate layer protein gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312971 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1305124 Cilp cartilage intermediate layer protein gene DOID:2717 Bloom syndrome ISO RGD:1312971 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305124 Cilp cartilage intermediate layer protein gene DOID:630 genetic disease ISO RGD:1312971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305124 Cilp cartilage intermediate layer protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312971 D RGD:1625347|PMID:15334463 20070604 RGD 1305124 Cilp cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1312971 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1305124 Cilp cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1312971 D RGD:7240710 20230505 OMIM 1305124 Cilp cartilage intermediate layer protein gene DOID:9256 colorectal cancer ISO RGD:1312971 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305125 Atl2 atlastin GTPase 2 gene DOID:0080690 RASopathy ISO RGD:1312973 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305125 Atl2 atlastin GTPase 2 gene DOID:11211 buphthalmos ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 1305125 Atl2 atlastin GTPase 2 gene DOID:3883 Lynch syndrome ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1305125 Atl2 atlastin GTPase 2 gene DOID:630 genetic disease ISO RGD:1312973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305126 Kif21a kinesin family member 21A gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL PMID:14595441|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 1305126 Kif21a kinesin family member 21A gene DOID:0080143 congenital fibrosis of the extraocular muscles ISS RGD:1312975 D RGD:13592920 20180518 MouseDO OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 1305126 Kif21a kinesin family member 21A gene DOID:0080600 COVID-19 ISO RGD:1312975 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305126 Kif21a kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:1600402|PMID:14595441 20070307 RGD DNA:missense mutation:CDS:2860C>T (p.R954W) (human) 1305126 Kif21a kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:7240710 20151028 OMIM 1305126 Kif21a kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b PMID:10922204|PMID:14595441|PMID:15223798|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 1305126 Kif21a kinesin family member 21A gene DOID:12271 aniridia ISO RGD:1312975 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 1305126 Kif21a kinesin family member 21A gene DOID:5409 lung small cell carcinoma ISO RGD:1312975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1305126 Kif21a kinesin family member 21A gene DOID:630 genetic disease ISO RGD:1312975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305127 Txnl4b thioredoxin-like 4B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1305127 Txnl4b thioredoxin-like 4B gene DOID:630 genetic disease ISO RGD:1344635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:7240710 20130221 OMIM 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1312978 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:12679 nephrocalcinosis ISS RGD:1312979 D RGD:13592920 20211028 MouseDO 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1312978 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1312978 D RGD:7240710 20210825 OMIM 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1312978 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9004590 Acute Liver Failure ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312979 D RGD:8694187|PMID:22229649 20140728 RGD mRNA,protein:decreased expression:retina,mitochondrion: 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1312978 D RGD:7240710 20190904 OMIM 1305128 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1312978 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 1305129 Mamdc2 MAM domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1312980 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305129 Mamdc2 MAM domain containing 2 gene DOID:630 genetic disease ISO RGD:1312980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305130 Zfp18 zinc finger protein 18 gene DOID:630 genetic disease ISO RGD:1312982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305132 Klhdc8a kelch domain containing 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1305132 Klhdc8a kelch domain containing 8A gene DOID:12849 autistic disorder ISO RGD:1605377 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305132 Klhdc8a kelch domain containing 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1605377 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305132 Klhdc8a kelch domain containing 8A gene DOID:630 genetic disease ISO RGD:1605377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305132 Klhdc8a kelch domain containing 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1305132 Klhdc8a kelch domain containing 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605377 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305133 Mphosph8 M-phase phosphoprotein 8 gene DOID:630 genetic disease ISO RGD:1603305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305135 Akap2 A-kinase anchoring protein 2 gene DOID:10283 prostate cancer ISO RGD:1603446 D RGD:8554872 20190528 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305135 Akap2 A-kinase anchoring protein 2 gene DOID:630 genetic disease ISO RGD:1603446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305135 Akap2 A-kinase anchoring protein 2 gene DOID:9004657 Weight Gain ISO RGD:2308242 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1305137 Med25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:30800049|PMID:9536098 1305137 Med25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28170084|PMID:28492532|PMID:30039206|PMID:30800049|PMID:31602195|PMID:32324310|PMID:32371413|PMID:32376792|PMID:9536098 1305137 Med25 mediator complex subunit 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1305137 Med25 mediator complex subunit 25 gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1347126 D RGD:11554173 20200526 CTD CTD Direct Evidence: marker/mechanism 1305137 Med25 mediator complex subunit 25 gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 PMID:25488817|PMID:25527630|PMID:25741868|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32371413 1305137 Med25 mediator complex subunit 25 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25488817|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:32376792 1305137 Med25 mediator complex subunit 25 gene DOID:1389 polyneuropathy ISO RGD:1347126 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:28492532 1305137 Med25 mediator complex subunit 25 gene DOID:630 genetic disease ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:9536098 1305137 Med25 mediator complex subunit 25 gene DOID:9001276 Failure to Thrive ISO RGD:1347126 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 1305137 Med25 mediator complex subunit 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347126 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305137 Med25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:7240710 20170301 OMIM 1305137 Med25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome PMID:25488817|PMID:25741868|PMID:25792360|PMID:28170084|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32376792 1305138 Mfsd5 major facilitator superfamily domain containing 5 gene DOID:630 genetic disease ISO RGD:1605912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305139 Zfp281 zinc finger protein 281 gene DOID:1540 parathyroid carcinoma ISO RGD:1312996 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305139 Zfp281 zinc finger protein 281 gene DOID:630 genetic disease ISO RGD:1312996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305139 Zfp281 zinc finger protein 281 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312996 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305140 Dcaf7 DDB1 and CUL4 associated factor 7 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1604053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 1305140 Dcaf7 DDB1 and CUL4 associated factor 7 gene DOID:630 genetic disease ISO RGD:1604053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305140 Dcaf7 DDB1 and CUL4 associated factor 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1305141 Wdr45b WD repeat domain 45B gene DOID:1059 intellectual disability ISO RGD:1350558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1305141 Wdr45b WD repeat domain 45B gene DOID:630 genetic disease ISO RGD:1350558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305141 Wdr45b WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:7240710 20190315 OMIM 1305141 Wdr45b WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures PMID:25741868|PMID:27431290|PMID:28492532 1305142 Tbl3 transducin (beta)-like 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1305142 Tbl3 transducin (beta)-like 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305142 Tbl3 transducin (beta)-like 3 gene DOID:1826 epilepsy ISO RGD:1313000 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305142 Tbl3 transducin (beta)-like 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313000 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305142 Tbl3 transducin (beta)-like 3 gene DOID:630 genetic disease ISO RGD:1313000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305143 Sdhaf3 succinate dehydrogenase complex assembly factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313002 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305143 Sdhaf3 succinate dehydrogenase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1313002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305144 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:1059 intellectual disability ISO RGD:1313003 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305144 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:630 genetic disease ISO RGD:1313003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305144 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1305144 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1305144 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313003 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953835 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1605947 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:7240710 20170301 OMIM 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 PMID:22237560|PMID:25385316|PMID:25629079|PMID:25741868|PMID:25807530|PMID:26402642|PMID:26467025|PMID:28077841|PMID:28492532|PMID:30327238|PMID:31665838|PMID:34374940|PMID:35558980 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:7240710 20190626 OMIM 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 PMID:25741868|PMID:25807530|PMID:28492532 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605947 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1605947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1305145 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1605947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 1305146 Tmx4 thioredoxin-related transmembrane protein 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1305146 Tmx4 thioredoxin-related transmembrane protein 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1305146 Tmx4 thioredoxin-related transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1603023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305146 Tmx4 thioredoxin-related transmembrane protein 4 gene DOID:9245 Alagille syndrome ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 1305148 Marchf1 membrane associated ring-CH-type finger 1 gene DOID:0080600 COVID-19 ISO RGD:1354489 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305148 Marchf1 membrane associated ring-CH-type finger 1 gene DOID:630 genetic disease ISO RGD:1354489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305149 Il15ra interleukin 15 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313009 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305149 Il15ra interleukin 15 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1313009 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305149 Il15ra interleukin 15 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1313009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305149 Il15ra interleukin 15 receptor subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313009 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 1305149 Il15ra interleukin 15 receptor subunit alpha gene DOID:9001488 Human Influenza ISO RGD:1313010 D RGD:4994196|PMID:21098221 20110728 RGD 1305149 Il15ra interleukin 15 receptor subunit alpha gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1313010 D RGD:5000755|PMID:17611121 20110728 RGD 1305151 B3gnt3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1313012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305152 Itga10 integrin subunit alpha 10 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1305152 Itga10 integrin subunit alpha 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1313014 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305152 Itga10 integrin subunit alpha 10 gene DOID:2256 osteochondrodysplasia ISO RGD:12262494 D RGD:9068941 20210604 OMIA Chondrodysplasia, disproportionate short-limbed PMID:24086591|PMID:7081383 1305152 Itga10 integrin subunit alpha 10 gene DOID:5419 schizophrenia ISO RGD:1313014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305152 Itga10 integrin subunit alpha 10 gene DOID:630 genetic disease ISO RGD:1313014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305152 Itga10 integrin subunit alpha 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313014 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305153 Ccdc96 coiled-coil domain containing 96 gene DOID:4501 orofaciodigital syndrome ISO RGD:1603873 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 1305153 Ccdc96 coiled-coil domain containing 96 gene DOID:630 genetic disease ISO RGD:1603873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305154 Asb7 ankyrin repeat and SOCS box-containing 7 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1313017 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1305154 Asb7 ankyrin repeat and SOCS box-containing 7 gene DOID:630 genetic disease ISO RGD:1313017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305154 Asb7 ankyrin repeat and SOCS box-containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313017 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305155 Adamtsl3 ADAMTS-like 3 gene DOID:13938 amenorrhea ISO RGD:1313018 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305155 Adamtsl3 ADAMTS-like 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1305155 Adamtsl3 ADAMTS-like 3 gene DOID:2717 Bloom syndrome ISO RGD:1313018 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305155 Adamtsl3 ADAMTS-like 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1305155 Adamtsl3 ADAMTS-like 3 gene DOID:630 genetic disease ISO RGD:1313018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305155 Adamtsl3 ADAMTS-like 3 gene DOID:9256 colorectal cancer ISO RGD:1313018 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:7240710 20190315 OMIM 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 10 PMID:25105364|PMID:25741868|PMID:26443207|PMID:28492532 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1606915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:28492532 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606915 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:2717 Bloom syndrome ISS RGD:1331905 D RGD:13592920 20180518 MouseDO OMIM:210900 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:630 genetic disease ISO RGD:1606915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305156 Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase gene DOID:9008086 Developmental Disabilities ISO RGD:1606915 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Global developmental delay 1305157 Gask1a golgi associated kinase 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1305157 Gask1a golgi associated kinase 1A gene DOID:630 genetic disease ISO RGD:1606802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305158 Smim8 small integral membrane protein 8 gene DOID:630 genetic disease ISO RGD:1313022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305159 Wdr5 WD repeat domain 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1305159 Wdr5 WD repeat domain 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305159 Wdr5 WD repeat domain 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349800 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1305159 Wdr5 WD repeat domain 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1305159 Wdr5 WD repeat domain 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1305159 Wdr5 WD repeat domain 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349800 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1305159 Wdr5 WD repeat domain 5 gene DOID:1682 congenital heart disease ISO RGD:1349800 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital heart disease 1305159 Wdr5 WD repeat domain 5 gene DOID:3652 Leigh disease ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1305159 Wdr5 WD repeat domain 5 gene DOID:630 genetic disease ISO RGD:1349800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305160 Ntan1 N-terminal asparagine amidase gene DOID:12849 autistic disorder ISO RGD:1350127 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305160 Ntan1 N-terminal asparagine amidase gene DOID:1826 epilepsy ISO RGD:1350127 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305160 Ntan1 N-terminal asparagine amidase gene DOID:5419 schizophrenia ISO RGD:1350127 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305160 Ntan1 N-terminal asparagine amidase gene DOID:630 genetic disease ISO RGD:1350127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1313025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:7240710 20130221 OMIM 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 PMID:14757859|PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313025 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:10907 microcephaly ISO RGD:1313025 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:12849 autistic disorder ISO RGD:1313025 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305161 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305162 Fam76a family with sequence similarity 76, member A gene DOID:630 genetic disease ISO RGD:1604511 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305163 Irgm immunity-related GTPase M gene DOID:0050589 inflammatory bowel disease ISO RGD:1601797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 1305163 Irgm immunity-related GTPase M gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305163 Irgm immunity-related GTPase M gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:7240710 20130731 OMIM 1305163 Irgm immunity-related GTPase M gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 19 PMID:17554261|PMID:18985712|PMID:19174780|PMID:21278745|PMID:33116287 1305163 Irgm immunity-related GTPase M gene DOID:399 tuberculosis ISO RGD:1601797 D RGD:7240710 20230505 OMIM 1305163 Irgm immunity-related GTPase M gene DOID:630 genetic disease ISO RGD:1601797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305163 Irgm immunity-related GTPase M gene DOID:8577 ulcerative colitis ISO RGD:1601797 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 1305163 Irgm immunity-related GTPase M gene DOID:8778 Crohn's disease ISO RGD:1601797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438406|PMID:19165925|PMID:21278745 1305163 Irgm immunity-related GTPase M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305164 Pdia2 protein disulfide isomerase family A, member 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1313029 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve 1305164 Pdia2 protein disulfide isomerase family A, member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1305164 Pdia2 protein disulfide isomerase family A, member 2 gene DOID:1826 epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1305164 Pdia2 protein disulfide isomerase family A, member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305164 Pdia2 protein disulfide isomerase family A, member 2 gene DOID:630 genetic disease ISO RGD:1313029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305165 Ranbp6 RAN binding protein 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1305165 Ranbp6 RAN binding protein 6 gene DOID:630 genetic disease ISO RGD:1313031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305166 Tctn3 tectonic family member 3 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1313033 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 1305166 Tctn3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:7240710 20150701 OMIM 1305166 Tctn3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:16199547|PMID:17576681|PMID:22883145|PMID:24033266|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:27377014|PMID:28333917|PMID:28492532|PMID:28771248|PMID:30976395|PMID:33098376|PMID:9536098 1305166 Tctn3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:7240710 20150701 OMIM 1305166 Tctn3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 18 PMID:22883145|PMID:25741868|PMID:26092869|PMID:27377014|PMID:28492532|PMID:28771248 1305166 Tctn3 tectonic family member 3 gene DOID:2843 long QT syndrome ISO RGD:1313033 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305166 Tctn3 tectonic family member 3 gene DOID:630 genetic disease ISO RGD:1313033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532 1305166 Tctn3 tectonic family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1313033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1305167 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:13938 amenorrhea ISO RGD:1346005 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305167 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1346005 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305167 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:630 genetic disease ISO RGD:1346005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305167 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1346005 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305168 Mcm3 minichromosome maintenance complex component 3 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1313036 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 1305168 Mcm3 minichromosome maintenance complex component 3 gene DOID:630 genetic disease ISO RGD:1313036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305169 Pank2 pantothenate kinase 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532 1305169 Pank2 pantothenate kinase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1305169 Pank2 pantothenate kinase 2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1313038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20629144 1305169 Pank2 pantothenate kinase 2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical PMID:11479594|PMID:12510040|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16023068|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23166001|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26547561|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:29590070 1305169 Pank2 pantothenate kinase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26497376|PMID:26795593|PMID:28492532|PMID:28708303|PMID:29590070 1305169 Pank2 pantothenate kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1313038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16450344|PMID:17296847 1305169 Pank2 pantothenate kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1313038 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868 1305169 Pank2 pantothenate kinase 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12510040|PMID:16437574|PMID:28492532 1305169 Pank2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14580665 1305169 Pank2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:7240710 20130221 OMIM 1305169 Pank2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:1301187|PMID:14638969|PMID:15465096|PMID:15565311|PMID:15659606|PMID:15747360|PMID:15834858|PMID:15843062|PMID:15911822|PMID:16023068|PMID:16157712|PMID:16199547|PMID:16240131|PMID:16272150|PMID:16437574|PMID:16450344|PMID:1734303|PMID:17576681|PMID:17903678|PMID:18006953|PMID:19224615|PMID:20076801|PMID:20193558|PMID:20497339|PMID:20551478|PMID:20603201|PMID:20629144|PMID:21198414|PMID:21459825|PMID:21480873|PMID:21877312|PMID:22103354|PMID:22127788|PMID:22221393|PMID:22416811|PMID:22547525|PMID:22682757|PMID:23166001|PMID:23634310|PMID:23757202|PMID:23968566|PMID:24033266|PMID:24075960|PMID:24209433|PMID:24215330|PMID:24348190|PMID:24689511|PMID:24712887|PMID:24868354|PMID:25268133|PMID:25741868|PMID:25802776|PMID:25915509|PMID:26087139|PMID:26467025|PMID:26547561|PMID:26795593|PMID:26828213|PMID:27185474|PMID:27815806|PMID:28094106|PMID:28113101|PMID:28357202|PMID:28492532|PMID:28680084|PMID:28708303|PMID:28781879|PMID:28821231|PMID:28845923|PMID:28863176|PMID:28881514|PMID:29590070|PMID:29801903|PMID:30363610|PMID:30681573|PMID:31088771|PMID:31540697|PMID:32043823|PMID:32310012|PMID:32581362|PMID:32654475|PMID:32851917|PMID:33072517|PMID:33098801|PMID:34272103|PMID:7898702|PMID:9536098 1305169 Pank2 pantothenate kinase 2 gene DOID:543 dystonia ISO RGD:1313038 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11479594|PMID:12058097|PMID:12510040|PMID:1734303|PMID:25741868|PMID:28492532|PMID:32581362 1305169 Pank2 pantothenate kinase 2 gene DOID:630 genetic disease ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479594|PMID:12058097|PMID:12510040|PMID:14638969|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32654475|PMID:7898702 1305169 Pank2 pantothenate kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493851 1305169 Pank2 pantothenate kinase 2 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313038 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1305169 Pank2 pantothenate kinase 2 gene DOID:9004936 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration ISO RGD:1313038 D RGD:7240710 20130221 OMIM 1305169 Pank2 pantothenate kinase 2 gene DOID:9004936 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration ISO RGD:1313038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:12523119|PMID:14631201|PMID:14638969|PMID:14743358|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:1734303|PMID:20629144|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26467025|PMID:26795593|PMID:27185474|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32581362|PMID:32654475|PMID:33072517|PMID:7898702 1305170 Cpn2 carboxypeptidase N subunit 2 gene DOID:630 genetic disease ISO RGD:1346122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305171 Pcdhb3 protocadherin beta 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313041 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1305171 Pcdhb3 protocadherin beta 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305171 Pcdhb3 protocadherin beta 3 gene DOID:630 genetic disease ISO RGD:1313041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases 1305171 Pcdhb3 protocadherin beta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313041 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305171 Pcdhb3 protocadherin beta 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305172 Snapc3 small nuclear RNA activating complex, polypeptide 3 gene DOID:630 genetic disease ISO RGD:1313043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313045 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1313045 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:3652 Leigh disease ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1305173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:630 genetic disease ISO RGD:1313045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305174 Magoh mago homolog, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1313047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305177 Lctl lactase-like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1305177 Lctl lactase-like gene DOID:2717 Bloom syndrome ISO RGD:1602287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305177 Lctl lactase-like gene DOID:630 genetic disease ISO RGD:1602287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305177 Lctl lactase-like gene DOID:9256 colorectal cancer ISO RGD:1602287 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305178 C3h9orf78 similar to human chromosome 9 open reading frame 78 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305179 N4bp1 Nedd4 binding protein 1 gene DOID:630 genetic disease ISO RGD:1605706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1313054 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313054 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305180 Pbxip1 PBX homeobox interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313054 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:1313056 D RGD:13628740|PMID:24679184 20180621 RGD DNA:SNP: :rs6716901(human) 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1313056 D RGD:13628738|PMID:18180767 20180621 RGD mRNA:increased expression:prefrontal cortex 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1313056 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:1313056 D RGD:13628739|PMID:17151801 20180621 RGD 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:7240710 20130731 OMIM 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 PMID:17576681|PMID:19641205|PMID:24515575|PMID:25741868|PMID:28492532|PMID:31403263|PMID:9536098 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1313056 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313056 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder ISO RGD:1313056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15056512|PMID:18348195 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder susceptibility ISO RGD:1313056 D RGD:1358576|PMID:15056512 19990101 RGD DNA:snps:introns:IVS3-21A>G (rs2056202), IVS16+70A>G (rs2292813) (human) 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:1826 epilepsy ISO RGD:1313056 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:630 genetic disease ISO RGD:1313056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305181 Slc25a12 solute carrier family 25 member 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1313056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313058 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:7240710 20130221 OMIM 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:11555 Fuchs' endothelial dystrophy ISS RGD:1313059 D RGD:13592920 20180518 MouseDO OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:7240710 20130221 OMIM 1305182 Col8a2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 1305183 Cep76 centrosomal protein 76 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313060 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1305183 Cep76 centrosomal protein 76 gene DOID:1059 intellectual disability ISO RGD:1313060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305183 Cep76 centrosomal protein 76 gene DOID:543 dystonia ISO RGD:1313060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1305183 Cep76 centrosomal protein 76 gene DOID:630 genetic disease ISO RGD:1313060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305183 Cep76 centrosomal protein 76 gene DOID:9007661 Dwarfism ISO RGD:1313060 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313064 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:7240710 20190911 OMIM 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant PMID:25741868|PMID:25741869|PMID:30929741|PMID:31203368|PMID:31515522|PMID:31696996 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:630 genetic disease ISO RGD:1313064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305186 Ubap1 ubiquitin-associated protein 1 gene DOID:9870 galactosemia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305187 Gpr31 G protein-coupled receptor 31 gene DOID:630 genetic disease ISO RGD:1313066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305188 Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:11612 polycystic ovary syndrome ISO RGD:1313067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1305188 Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1313067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305189 Parp3 poly (ADP-ribose) polymerase family, member 3 gene DOID:630 genetic disease ISO RGD:1604647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305190 Slc25a51 solute carrier family 25, member 51 gene DOID:630 genetic disease ISO RGD:1313070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305191 Kifap3 kinesin-associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305191 Kifap3 kinesin-associated protein 3 gene DOID:630 genetic disease ISO RGD:1313072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305191 Kifap3 kinesin-associated protein 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313072 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1305191 Kifap3 kinesin-associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313072 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:2717 Bloom syndrome ISO RGD:1313074 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:5419 schizophrenia ISO RGD:1313074 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:630 genetic disease ISO RGD:1313074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:7240710 20220518 OMIM 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 PMID:34585848 1305192 Sema7a semaphorin 7A (John Milton Hagen blood group) gene DOID:9256 colorectal cancer ISO RGD:1313074 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305193 Cyp2w1 cytochrome P450, family 2, subfamily w, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1313076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:0060903 thrombosis ISO RGD:1313078 D RGD:11059524|PMID:9845553 20160415 RGD 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:0110916 hereditary spherocytosis type 1 ISS RGD:1313078 D RGD:13592920 20180518 MouseDO OMIM:182900 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:7240710 20130221 OMIM 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive PMID:15071791|PMID:15384986|PMID:1638030|PMID:21212007|PMID:23241237|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31602632|PMID:31723846|PMID:32581362|PMID:3785322|PMID:8081008|PMID:8370581|PMID:8941647 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:10923 sickle cell anemia ISS RGD:1313078 D RGD:13592920 20180518 MouseDO OMIM:603903 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:11059521|PMID:15384986 20160415 RGD DNA:polymorphisms:introns,exon: 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:30976395|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313078 D RGD:11059522|PMID:11920196 20160415 RGD DNA:deletion:cds: 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313077 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:2355 anemia ISO RGD:1313077 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:31038472|PMID:31723846|PMID:32581362 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:25741868|PMID:28492532 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1313078 D RGD:11059523|PMID:11154235 20160415 RGD DNA:insertion:intron: 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:583 hemolytic anemia ISO RGD:1313077 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868|PMID:28492532|PMID:32581362 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:26002053|PMID:28492532 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31040790|PMID:31723846 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:7240710 20130221 OMIM 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:1191563|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18815189|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:24033266|PMID:2567189|PMID:2568862|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28090778|PMID:28298237|PMID:28492532|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32581362|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:6236232|PMID:7074218|PMID:8068958|PMID:8081008|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783|PMID:9746802 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:7240710 20130221 OMIM 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2 PMID:1191563|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18783249|PMID:1878597|PMID:18815189|PMID:19593814|PMID:20197550|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:2384601|PMID:23974198|PMID:24033266|PMID:2567189|PMID:2568861|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28090778|PMID:28492532|PMID:2895677|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31130284|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32266426|PMID:32581362|PMID:32641076|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:7074218|PMID:8068958|PMID:8081008|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8490186|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783 1305194 Spta1 spectrin, alpha, erythrocytic 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313077 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305195 Rbm11 RNA binding motif protein 11 gene DOID:10652 Alzheimer's disease ISO RGD:1313079 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1305195 Rbm11 RNA binding motif protein 11 gene DOID:630 genetic disease ISO RGD:1313079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305195 Rbm11 RNA binding motif protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313079 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305196 Jph2 junctophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:22584458|PMID:23834499|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532 1305196 Jph2 junctophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30235249|PMID:30615648|PMID:33673806 1305196 Jph2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:7240710 20210908 OMIM 1305196 Jph2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:23861362|PMID:24033266|PMID:25741868|PMID:26718681|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567 1305196 Jph2 junctophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17509612|PMID:22389502|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30615648 1305196 Jph2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:7240710 20140911 OMIM 1305196 Jph2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 PMID:17476457|PMID:17509612|PMID:22389502|PMID:22584458|PMID:23757202|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28087566|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567|PMID:35026164 1305196 Jph2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23757202|PMID:23834499|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25500949|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28008999|PMID:28087566|PMID:28254189|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30615648|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34062390|PMID:35026164|PMID:9536098 1305196 Jph2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313082 D RGD:1580652|PMID:15541368 19990101 RGD 1305196 Jph2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy disease_progression IEP D RGD:6480270|PMID:20576937 20120320 RGD protein:decreased expression:heart 1305196 Jph2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889 1305196 Jph2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889|PMID:30615648 1305196 Jph2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313082 D RGD:1580652|PMID:15541368 19990101 RGD 1305196 Jph2 junctophilin 2 gene DOID:2234 focal epilepsy ISO RGD:1313081 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305196 Jph2 junctophilin 2 gene DOID:2843 long QT syndrome ISO RGD:1313081 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305196 Jph2 junctophilin 2 gene DOID:630 genetic disease ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30847666 1305196 Jph2 junctophilin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1313081 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 1305196 Jph2 junctophilin 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1305196 Jph2 junctophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1313081 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 1305196 Jph2 junctophilin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313081 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 1305197 Nrl neural retina leucine zipper gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1305197 Nrl neural retina leucine zipper gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290 1305197 Nrl neural retina leucine zipper gene DOID:0090059 enhanced S-cone syndrome ISS RGD:1313084 D RGD:13592920 20180518 MouseDO OMIM:268100 1305197 Nrl neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:7240710 20141015 OMIM 1305197 Nrl neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 27 PMID:10192380|PMID:11039579|PMID:11385710|PMID:11694879|PMID:11879142|PMID:12796249|PMID:15591106|PMID:17335001|PMID:17374726|PMID:21981118|PMID:22334370|PMID:25412400|PMID:25741868|PMID:27732723|PMID:28492532|PMID:29385733|PMID:31456290 1305197 Nrl neural retina leucine zipper gene DOID:10584 retinitis pigmentosa ISO RGD:1313083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10192380|PMID:12796249 1305197 Nrl neural retina leucine zipper gene DOID:10584 retinitis pigmentosa ISO RGD:1313083 D RGD:1580991|PMID:11879142 19990101 RGD DNA:missense mutation:cds:p.S50L (human) 1305197 Nrl neural retina leucine zipper gene DOID:10584 retinitis pigmentosa ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733 1305197 Nrl neural retina leucine zipper gene DOID:630 genetic disease ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305197 Nrl neural retina leucine zipper gene DOID:8466 retinal degeneration ISO RGD:1313083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15591106 1305197 Nrl neural retina leucine zipper gene DOID:8499 night blindness ISO RGD:1313083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12796249|PMID:15591106 1305197 Nrl neural retina leucine zipper gene DOID:8501 fundus dystrophy ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11385710|PMID:17335001|PMID:21981118|PMID:22334370|PMID:25741868|PMID:28492532|PMID:29385733 1305197 Nrl neural retina leucine zipper gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1305197 Nrl neural retina leucine zipper gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 1305197 Nrl neural retina leucine zipper gene DOID:9001923 Foveal Hypoplasia ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:25741868|PMID:28492532|PMID:29385733 1305197 Nrl neural retina leucine zipper gene DOID:9002610 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration, autosomal recessive, clumped pigment type PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28492532 1305197 Nrl neural retina leucine zipper gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1305198 Meis2 Meis homeobox 2 gene DOID:0050567 orofacial cleft ISO RGD:1313085 D RGD:155598680|PMID:24678003 20221019 RGD DNA:mutations, haplotype insufficiency: : 1305198 Meis2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:7240710 20190315 OMIM 1305198 Meis2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies PMID:24678003|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:33526774 1305198 Meis2 Meis homeobox 2 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1313085 D RGD:155630591|PMID:29452408 20221020 RGD DNA:SNP::rs28480457(human) 1305198 Meis2 Meis homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:1313085 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305198 Meis2 Meis homeobox 2 gene DOID:3454 brain infarction IEP D RGD:155630606|PMID:12161747 20221025 RGD protein:altered expression:brain (rat) 1305198 Meis2 Meis homeobox 2 gene DOID:630 genetic disease ISO RGD:1313085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30291340|PMID:30735726 1305198 Meis2 Meis homeobox 2 gene DOID:674 cleft palate ISO RGD:1313085 D RGD:155598678|PMID:30291340 20221019 RGD DNA:mutations:cds:multiples 1305198 Meis2 Meis homeobox 2 gene DOID:8927 learning disability ISO RGD:1313085 D RGD:155598680|PMID:24678003 20221019 RGD DNA:mutations, haplotype insufficiency: : 1305198 Meis2 Meis homeobox 2 gene DOID:9004397 calcification of aortic valve ISO RGD:1313085 D RGD:155598679|PMID:30594396 20221019 RGD mRNA,protein:decreased expression:aortic valve: 1305198 Meis2 Meis homeobox 2 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1313085 D RGD:155598678|PMID:30291340 20221019 RGD DNA:mutations:cds:multiples 1305198 Meis2 Meis homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:1313085 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305199 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305199 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1605937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305199 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605937 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305199 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305200 Ttll2 tubulin tyrosine ligase like 2 gene DOID:630 genetic disease ISO RGD:1313087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305201 Dr1 down-regulator of transcription 1 gene DOID:630 genetic disease ISO RGD:1313088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305202 Ccm2l CCM2 like scaffold protein gene DOID:630 genetic disease ISO RGD:1344204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305203 Bag1 BAG cochaperone 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305203 Bag1 BAG cochaperone 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305203 Bag1 BAG cochaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1313091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305203 Bag1 BAG cochaperone 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305203 Bag1 BAG cochaperone 1 gene DOID:10283 prostate cancer ISO RGD:1313091 D RGD:2293885|PMID:17503439 20080620 RGD DNA, protein:amplification, increased expression:prostate gland 1305203 Bag1 BAG cochaperone 1 gene DOID:12528 lesion of sciatic nerve IEP D RGD:13506903|PMID:23108487 20180221 RGD 1305203 Bag1 BAG cochaperone 1 gene DOID:12858 Huntington's disease treatment ISO RGD:1313092 D RGD:13506921|PMID:18400759 20180223 RGD 1305203 Bag1 BAG cochaperone 1 gene DOID:1380 endometrial cancer ISO RGD:1313091 D RGD:2293886|PMID:15297164 20080620 RGD protein:increased expression:endometrium 1305203 Bag1 BAG cochaperone 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1313091 D RGD:2293888|PMID:11181661 20080620 RGD protein:increased expression:breast 1305203 Bag1 BAG cochaperone 1 gene DOID:2893 cervix carcinoma ISO RGD:1313091 D RGD:2293889|PMID:10047462 20080620 RGD protein:increased expression:uterine cervix 1305203 Bag1 BAG cochaperone 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1313091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 1305203 Bag1 BAG cochaperone 1 gene DOID:630 genetic disease ISO RGD:1313091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305203 Bag1 BAG cochaperone 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313091 D RGD:2292908|PMID:18430249 20080506 RGD associated with Breast Neoplasms:protein:increased expression:breast 1305203 Bag1 BAG cochaperone 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:2296021|PMID:12215270 20080623 RGD 1305203 Bag1 BAG cochaperone 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 1305203 Bag1 BAG cochaperone 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305203 Bag1 BAG cochaperone 1 gene DOID:9870 galactosemia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305204 Rnf43 ring finger protein 43 gene DOID:0050777 Joubert syndrome ISO RGD:1342772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305204 Rnf43 ring finger protein 43 gene DOID:0050869 villous adenoma ISO RGD:1342772 D RGD:9068941 20220825 RGD DNA:nonsense mutation:CDS:p.R113X (human) PMID:24512911|REF_RGD_ID:11552863 1305204 Rnf43 ring finger protein 43 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 1305204 Rnf43 ring finger protein 43 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:28492532 1305204 Rnf43 ring finger protein 43 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1342772 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 1305204 Rnf43 ring finger protein 43 gene DOID:10534 stomach cancer ISO RGD:1332400 D RGD:11354809|PMID:27006499 20220311 RGD 1305204 Rnf43 ring finger protein 43 gene DOID:10534 stomach cancer disease_progression ISO RGD:1342772 D RGD:151361220|PMID:27514024 20220301 RGD mRNA:altered expression:stomach (human) 1305204 Rnf43 ring finger protein 43 gene DOID:1059 intellectual disability ISO RGD:1342772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1305204 Rnf43 ring finger protein 43 gene DOID:1380 endometrial cancer ISO RGD:1342772 D RGD:151361224|PMID:25344691 20220301 RGD DNA:mutations:multiple: (human) 1305204 Rnf43 ring finger protein 43 gene DOID:218 ascending colon cancer exacerbates ISO RGD:1342772 D RGD:151361217|PMID:32236609 20220301 RGD DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) 1305204 Rnf43 ring finger protein 43 gene DOID:219 colon cancer disease_progression ISO RGD:1342772 D RGD:11053240|PMID:26350900 20220224 RGD mRNA:increased expression:colon (human) 1305204 Rnf43 ring finger protein 43 gene DOID:3070 high grade glioma exacerbates ISO RGD:1342772 D RGD:151361124|PMID:25755738 20220224 RGD protein:decreased expression:brain, brainstem (human) 1305204 Rnf43 ring finger protein 43 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1342772 D RGD:151361216|PMID:30380024 20220301 RGD human cells in a mouse model 1305204 Rnf43 ring finger protein 43 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1342772 D RGD:151361222|PMID:31286874 20220301 RGD human cells in a mouse model 1305204 Rnf43 ring finger protein 43 gene DOID:4029 gastritis exacerbates ISO RGD:1332400 D RGD:151361146|PMID:30884828 20220224 RGD associated with Helicobacter Infections; DNA:missense mutations:CDS:p.H292R, p.H295R (mouse) 1305204 Rnf43 ring finger protein 43 gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:151361125|PMID:26980022 20220224 RGD mRNA, protein:decreased expression:liver, bile duct epithelium (human) 1305204 Rnf43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma ISO RGD:1342772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 1305204 Rnf43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:151361227|PMID:22561520 20220301 RGD associated with opisthorchiasis;DNA:SNPs:multiple: (human) 1305204 Rnf43 ring finger protein 43 gene DOID:5517 stomach carcinoma ISO RGD:1342772 D RGD:151665118|PMID:24816253 20220311 RGD DNA:mutations:multiple: (human) 1305204 Rnf43 ring finger protein 43 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:1342772 D RGD:11086719|PMID:26184844 20220301 RGD protein:decreased expression:stomach (human) 1305204 Rnf43 ring finger protein 43 gene DOID:630 genetic disease ISO RGD:1342772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305204 Rnf43 ring finger protein 43 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1342772 D RGD:151361219|PMID:23136185 20220301 RGD human cells in a mouse model 1305204 Rnf43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:11056888|PMID:26297255 20220301 RGD associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:151361217|PMID:32236609 20220301 RGD associated with ascending colon cancer;DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:151361224|PMID:25344691 20220301 RGD associated with colorectal cancer, endometrial cancer;DNA:mutations:multiple (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 1305204 Rnf43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:11552863|PMID:24512911 20220301 RGD DNA:nonsense mutation:CDS:p.R113X (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:7240710 20190315 OMIM 1305204 Rnf43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome PMID:22552244|PMID:24512911|PMID:25741868|PMID:26350900|PMID:27081527|PMID:28492532|PMID:29330307 1305204 Rnf43 ring finger protein 43 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342772 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1305204 Rnf43 ring finger protein 43 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1342772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 1305204 Rnf43 ring finger protein 43 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342772 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1305204 Rnf43 ring finger protein 43 gene DOID:9006618 Liver Metastasis ISO RGD:1342772 D RGD:151361221|PMID:28789449 20220301 RGD associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1342772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 1305204 Rnf43 ring finger protein 43 gene DOID:9008330 Serrated Polyposis ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon serrated polyposis PMID:22552244|PMID:27081527 1305204 Rnf43 ring finger protein 43 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1332400 D RGD:151361223|PMID:29021137 20220301 RGD protein:decreased expression:colorectum (mouse) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1342772 D RGD:151361218|PMID:27661107 20220301 RGD mRNA, protein:decreased expression:colorectum (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1342772 D RGD:151361224|PMID:25344691 20220301 RGD DNA:mutations:multiple: (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342772 D RGD:151361145|PMID:31140864 20220224 RGD DNA:silent mutation, missense mutation:exon 3:p.R117R, p.R117H (rs2257205) (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:151361209|PMID:29756208 20220301 RGD DNA:mutations:multiple (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:151361228|PMID:33230914 20220301 RGD DNA:mutations:multiple: (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer onset ISO RGD:1342772 D RGD:151356979|PMID:33194656 20220311 RGD associated with Neoplasm Metastasis;DNA:mutations:multiple (human) 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:151665113|PMID:29473265 20220311 RGD 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:151665114|PMID:22977472 20220311 RGD 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:151665115|PMID:23267878 20220311 RGD 1305204 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:151665116|PMID:22202234 20220311 RGD 1305204 Rnf43 ring finger protein 43 gene DOID:9778 irritable bowel syndrome exacerbates ISO RGD:1342772 D RGD:151361225|PMID:29416670 20220301 RGD associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human) 1305205 Mettl7b methyltransferase like 7B gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:1603260 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:28492532 1305205 Mettl7b methyltransferase like 7B gene DOID:4001 ovarian carcinoma ISO RGD:1603260 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 1305205 Mettl7b methyltransferase like 7B gene DOID:630 genetic disease ISO RGD:1603260 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305206 Ipo4 importin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1305206 Ipo4 importin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313095 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305206 Ipo4 importin 4 gene DOID:630 genetic disease ISO RGD:1313095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305206 Ipo4 importin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1305206 Ipo4 importin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1305206 Ipo4 importin 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313095 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305208 Als2cl ALS2 C-terminal like gene DOID:5419 schizophrenia ISO RGD:1605837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1305208 Als2cl ALS2 C-terminal like gene DOID:630 genetic disease ISO RGD:1605837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305208 Als2cl ALS2 C-terminal like gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:0050700 cardiomyopathy ISO RGD:2947567 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:2947567 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:0110223 Brugada syndrome 6 ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:1059 intellectual disability ISO RGD:2947567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:630 genetic disease ISO RGD:2947567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:2947567 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:9000727 Syncope ISO RGD:2947567 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:2947567 D RGD:7240710 20190315 OMIM 1305211 Lipt2 lipoyl(octanoyl) transferase 2 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:2947567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28757203 1305212 Poli DNA polymerase iota gene DOID:1059 intellectual disability ISO RGD:1313103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305212 Poli DNA polymerase iota gene DOID:630 genetic disease ISO RGD:1313103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305214 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1313107 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1305214 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:1313107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:34423584|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 1305214 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1305214 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:1909 melanoma ISO RGD:1313107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1305214 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305214 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 1305215 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305215 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:7240710 20190315 OMIM 1305215 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poikiloderma with neutropenia PMID:11737690|PMID:16199547|PMID:18925663|PMID:20004881|PMID:20503306|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:25044170|PMID:25741868|PMID:27247962|PMID:27612988|PMID:28492532|PMID:29072891|PMID:29770900|PMID:29982244|PMID:32897901|PMID:34179048 1305215 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305215 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305215 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305216 Sirt6 sirtuin 6 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:6484527|PMID:21373642 20140926 RGD 1305216 Sirt6 sirtuin 6 gene DOID:10763 hypertension exacerbates ISO RGD:1313111 D RGD:155260334|PMID:30894089 20221003 RGD 1305216 Sirt6 sirtuin 6 gene DOID:12932 endomyocardial fibrosis ISO RGD:1313110 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34713381 1305216 Sirt6 sirtuin 6 gene DOID:13938 amenorrhea ISO RGD:1313110 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305216 Sirt6 sirtuin 6 gene DOID:224 transient cerebral ischemia IEP D RGD:9586062|PMID:23899523 20140926 RGD mRNA, protein:decreased expression:brain 1305216 Sirt6 sirtuin 6 gene DOID:2843 long QT syndrome ISO RGD:1313110 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305216 Sirt6 sirtuin 6 gene DOID:3911 progeria ISS RGD:1313111 D RGD:13592920 20180518 MouseDO OMIM:176670 1305216 Sirt6 sirtuin 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313110 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1305216 Sirt6 sirtuin 6 gene DOID:630 genetic disease ISO RGD:1313110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305216 Sirt6 sirtuin 6 gene DOID:9000784 Fibrosis ISO RGD:1313110 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 1305216 Sirt6 sirtuin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313110 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34713381 1305216 Sirt6 sirtuin 6 gene DOID:9002371 Cardiotoxicity ISO RGD:1313110 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34713381 1305216 Sirt6 sirtuin 6 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:1313110 D RGD:155260334|PMID:30894089 20221003 RGD protein:decreased expression:kidney 1305216 Sirt6 sirtuin 6 gene DOID:9003936 Cardiomegaly IEP D RGD:9586060|PMID:22335191 20140926 RGD 1305216 Sirt6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1313110 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22335191|PMID:35798905 1305216 Sirt6 sirtuin 6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313110 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 1305216 Sirt6 sirtuin 6 gene DOID:9007174 Ventricular Remodeling ISO RGD:1313110 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34713381 1305216 Sirt6 sirtuin 6 gene DOID:9452 fatty liver disease ISO RGD:1313110 D RGD:11554173 20200211 CTD CTD Direct Evidence: therapeutic PMID:28536482 1305216 Sirt6 sirtuin 6 gene DOID:9970 obesity IEP D RGD:9586064|PMID:24135502 20140926 RGD protein:decreased expression:ovary 1305217 Foxb1 forkhead box B1 gene DOID:2717 Bloom syndrome ISO RGD:1313112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305217 Foxb1 forkhead box B1 gene DOID:630 genetic disease ISO RGD:1313112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305217 Foxb1 forkhead box B1 gene DOID:9256 colorectal cancer ISO RGD:1313112 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305218 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:7240710 20160914 OMIM 1305218 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 10 PMID:25437880|PMID:25741868|PMID:25873734|PMID:31042289 1305218 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1305218 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:14227 azoospermia ISO RGD:1313114 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1305218 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1305218 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305219 Cdk20 cyclin-dependent kinase 20 gene DOID:1184 nephrotic syndrome ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 1305219 Cdk20 cyclin-dependent kinase 20 gene DOID:1574 alcohol use disorder ISO RGD:1313116 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1305219 Cdk20 cyclin-dependent kinase 20 gene DOID:1826 epilepsy ISO RGD:1313116 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1305219 Cdk20 cyclin-dependent kinase 20 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313116 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1305219 Cdk20 cyclin-dependent kinase 20 gene DOID:630 genetic disease ISO RGD:1313116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305219 Cdk20 cyclin-dependent kinase 20 gene DOID:9008086 Developmental Disabilities ISO RGD:1313116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:29127259 1305220 Ppm1l protein phosphatase, Mg2+/Mn2+ dependent, 1L gene DOID:630 genetic disease ISO RGD:1313118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305220 Ppm1l protein phosphatase, Mg2+/Mn2+ dependent, 1L gene DOID:9970 obesity ISO RGD:1313118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 1305221 Pgm3 phosphoglucomutase 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603410 D RGD:8554872 20160510 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316|PMID:3500672 1305221 Pgm3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:7240710 20140911 OMIM 1305221 Pgm3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:1245758|PMID:14981714|PMID:16199547|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:26482871|PMID:28492532|PMID:28543917|PMID:32506361|PMID:33098103|PMID:3500672|PMID:9536098 1305221 Pgm3 phosphoglucomutase 3 gene DOID:3307 teratoma ISO RGD:1603410 D RGD:2299871|PMID:5259759 20080818 RGD 1305221 Pgm3 phosphoglucomutase 3 gene DOID:4362 cervical cancer ISO RGD:1603410 D RGD:2299870|PMID:508567 20080818 RGD 1305221 Pgm3 phosphoglucomutase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:1603410 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 1305221 Pgm3 phosphoglucomutase 3 gene DOID:630 genetic disease ISO RGD:1603410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305222 Tma16 translation machinery associated 16 homolog gene DOID:630 genetic disease ISO RGD:1605071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1313123 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:630 genetic disease ISO RGD:1313123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1313123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:8445 intestinal volvulus ISO RGD:1313123 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1313123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313123 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305223 Slc66a2 solute carrier family 66 member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1313123 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1305224 Sln sarcolipin gene DOID:1059 intellectual disability ISO RGD:1313124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305224 Sln sarcolipin gene DOID:12704 ataxia telangiectasia ISO RGD:1313124 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1305224 Sln sarcolipin gene DOID:630 genetic disease ISO RGD:1313124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305224 Sln sarcolipin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313124 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305225 Ccdc174 coiled-coil domain containing 174 gene DOID:0060417 3p deletion syndrome ISO RGD:1348248 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305225 Ccdc174 coiled-coil domain containing 174 gene DOID:630 genetic disease ISO RGD:1348248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305225 Ccdc174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:7240710 20190315 OMIM 1305225 Ccdc174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation PMID:25741868|PMID:26358778|PMID:28492532 1305226 Kmt5c lysine methyltransferase 5C gene DOID:630 genetic disease ISO RGD:1346503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305226 Kmt5c lysine methyltransferase 5C gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9586742|PMID:21357467 20141003 RGD mRNA:increased expression:retina 1305226 Kmt5c lysine methyltransferase 5C gene DOID:916 liver benign neoplasm disease_progression IEP D RGD:9586726|PMID:16497704 20141003 RGD protein:decreased expression:liver 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:1059 intellectual disability ISO RGD:1313128 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:234 colon adenocarcinoma severity ISO RGD:1313128 D RGD:151356955|PMID:23095742 20220221 RGD human cell line in a mouse model 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:630 genetic disease ISO RGD:1313128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1313128 D RGD:151356954|PMID:24483990 20220221 RGD assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human) 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313128 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1305227 Smc2 structural maintenance of chromosomes 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313128 D RGD:151356956|PMID:31357676 20220221 RGD mRNA:decreased expression:colorectum (human) 1305228 Phf2 PHD finger protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305228 Phf2 PHD finger protein 2 gene DOID:10283 prostate cancer ISO RGD:1313130 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305228 Phf2 PHD finger protein 2 gene DOID:12642 hiatus hernia ISO RGD:1313130 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 1305228 Phf2 PHD finger protein 2 gene DOID:630 genetic disease ISO RGD:1313130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 1305228 Phf2 PHD finger protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313130 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1313132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:687 hepatoblastoma ISO RGD:1313132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1601189|PMID:17404222 20090216 RGD 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305229 Frmpd1 FERM and PDZ domain containing 1 gene DOID:9870 galactosemia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305230 Reep1 receptor accessory protein 1 gene DOID:0060224 atrial fibrillation ISO RGD:1313134 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1305230 Reep1 receptor accessory protein 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1313134 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 1305230 Reep1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:7240710 20130221 OMIM 1305230 Reep1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23108492|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24604904|PMID:24986827|PMID:25025039|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26467025|PMID:26671083|PMID:27066569|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:29629531|PMID:30373780|PMID:30564185|PMID:30637453|PMID:31872057|PMID:32581362|PMID:9536098 1305230 Reep1 receptor accessory protein 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1313134 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism 1305230 Reep1 receptor accessory protein 1 gene DOID:0111205 distal hereditary motor neuronopathy type 5B ISO RGD:1313134 D RGD:7240710 20140911 OMIM 1305230 Reep1 receptor accessory protein 1 gene DOID:0111205 distal hereditary motor neuronopathy type 5B ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:20718791|PMID:22703882|PMID:24478229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34193129 1305230 Reep1 receptor accessory protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22703882|PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532 1305230 Reep1 receptor accessory protein 1 gene DOID:1389 polyneuropathy ISO RGD:1313134 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 1305230 Reep1 receptor accessory protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362 1305230 Reep1 receptor accessory protein 1 gene DOID:607 paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:27066569|PMID:28492532|PMID:29124833|PMID:30564185|PMID:31872057|PMID:32581362 1305230 Reep1 receptor accessory protein 1 gene DOID:630 genetic disease ISO RGD:1313134 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826527|PMID:18321925|PMID:24051375|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28362824|PMID:28492532|PMID:30373780 1305230 Reep1 receptor accessory protein 1 gene DOID:9003231 Distal Spinal Muscular Atrophy Type 6 ISO RGD:1313134 D RGD:7240710 20220921 OMIM 1305230 Reep1 receptor accessory protein 1 gene DOID:9003231 Distal Spinal Muscular Atrophy Type 6 ISO RGD:1313134 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 PMID:21618648|PMID:25741868|PMID:31872057|PMID:34193129 1305230 Reep1 receptor accessory protein 1 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 1305230 Reep1 receptor accessory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1313134 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25025039 1305231 Usp42 ubiquitin specific peptidase 42 gene DOID:630 genetic disease ISO RGD:1313136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305232 Slc5a10 solute carrier family 5 member 10 gene DOID:0050777 Joubert syndrome ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305232 Slc5a10 solute carrier family 5 member 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313138 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1305232 Slc5a10 solute carrier family 5 member 10 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1305232 Slc5a10 solute carrier family 5 member 10 gene DOID:12849 autistic disorder ISO RGD:1313138 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305232 Slc5a10 solute carrier family 5 member 10 gene DOID:630 genetic disease ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305232 Slc5a10 solute carrier family 5 member 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1313140 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374066 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1313140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1313140 D RGD:5135530|PMID:21263071 20110726 RGD 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:9686115|PMID:24771108 20150202 RGD 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:2841 asthma ISO RGD:1313141 D RGD:5135525|PMID:17517968 20110726 RGD 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1313140 D RGD:5135524|PMID:21382414 20110726 RGD 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1313140 D RGD:7245505|PMID:22472081 20130607 RGD DNA:polymorphisms: :-574G>T, +4259T>G (human) 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:630 genetic disease ISO RGD:1313140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313140 D RGD:40818257|PMID:27034168 20201116 RGD associated with hepatitis B;DNA:SNP: : ���1516 G>T (human) 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1313140 D RGD:7245505|PMID:22472081 20130607 RGD DNA:polymorphisms: : +4259T>G (human) 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:9686117|PMID:25264706 20150202 RGD mRNA,protein:altered expression:bone: 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:9686113|PMID:15913792 20150202 RGD mRNA:increased expression:spinal cord: 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1313141 D RGD:9686086|PMID:11823861 20150130 RGD 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection IEP D RGD:9686116|PMID:24508263 20150202 RGD mRNA,protein:increased expression:lung: 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1313140 D RGD:7245954|PMID:22172823 20130617 RGD mRNA:increased expression:Leukocytes, Mononuclear: 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression IEP D RGD:9686114|PMID:21784136 20150202 RGD mRNA,protein:increased expression:sciatic nerve: 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9007356 Eczema ISO RGD:1313140 D RGD:5128852|PMID:16159638 20110726 RGD 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374066 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:7240710 20190515 OMIM 1305233 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma PMID:25741868|PMID:30374066|PMID:30792187 1305235 Armt1 acidic residue methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305236 Psmd13 proteasome 26S subunit, non-ATPase 13 gene DOID:0111969 immunodeficiency 39 ISO RGD:1313146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1305236 Psmd13 proteasome 26S subunit, non-ATPase 13 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1305236 Psmd13 proteasome 26S subunit, non-ATPase 13 gene DOID:630 genetic disease ISO RGD:1313146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305238 Trim32 tripartite motif-containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:7240710 20171011 OMIM 1305238 Trim32 tripartite motif-containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:31624253|PMID:33296226|PMID:4269389 1305238 Trim32 tripartite motif-containing 32 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532 1305238 Trim32 tripartite motif-containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:7240710 20130221 OMIM 1305238 Trim32 tripartite motif-containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 1305238 Trim32 tripartite motif-containing 32 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266 1305238 Trim32 tripartite motif-containing 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 1305238 Trim32 tripartite motif-containing 32 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1313150 D RGD:1624129|PMID:16606853 20070502 RGD DNA:missense mutation:exon:p.P130S 1305238 Trim32 tripartite motif-containing 32 gene DOID:423 myopathy ISO RGD:1313150 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 1305238 Trim32 tripartite motif-containing 32 gene DOID:5419 schizophrenia ISO RGD:1313150 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305238 Trim32 tripartite motif-containing 32 gene DOID:630 genetic disease ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1305238 Trim32 tripartite motif-containing 32 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1313150 D RGD:1624127|PMID:11822024 20070502 RGD Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N 1305239 Zfp804a zinc finger protein 804A gene DOID:303 substance-related disorder ISO RGD:1349576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305239 Zfp804a zinc finger protein 804A gene DOID:4450 renal cell carcinoma ISO RGD:1349576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1305239 Zfp804a zinc finger protein 804A gene DOID:5419 schizophrenia ISO RGD:1349576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677311 1305239 Zfp804a zinc finger protein 804A gene DOID:5419 schizophrenia ISO RGD:1349576 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305239 Zfp804a zinc finger protein 804A gene DOID:630 genetic disease ISO RGD:1349576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:0060496 respiratory allergy ISO RGD:1313154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:0070048 GAND syndrome ISO RGD:1313154 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313154 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:630 genetic disease ISO RGD:1313154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16700911|PMID:19208208 1305241 Slc39a1 solute carrier family 39 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313154 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305242 Zkscan7 zinc finger with KRAB and SCAN domains 7 gene DOID:630 genetic disease ISO RGD:1313155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305243 Rfwd3 ring finger and WD repeat domain 3 gene DOID:607 paraplegia ISO RGD:1349611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1305243 Rfwd3 ring finger and WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305243 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1349611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 1305243 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349611 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305243 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:7240710 20190315 OMIM 1305243 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group W PMID:25741868|PMID:26474068|PMID:28492532|PMID:28691929|PMID:33044890 1305244 Plekha3 pleckstrin homology domain containing A3 gene DOID:0090048 dystonia 16 ISO RGD:1313158 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 1305244 Plekha3 pleckstrin homology domain containing A3 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:21681106|PMID:22335739|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 1305244 Plekha3 pleckstrin homology domain containing A3 gene DOID:630 genetic disease ISO RGD:1313158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305246 Abhd17b abhydrolase domain containing 17B, depalmitoylase gene DOID:630 genetic disease ISO RGD:1313162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305247 Prdm9 PR/SET domain 9 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1349245 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1305247 Prdm9 PR/SET domain 9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349245 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1305247 Prdm9 PR/SET domain 9 gene DOID:630 genetic disease ISO RGD:1349245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305247 Prdm9 PR/SET domain 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349245 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:25741868|PMID:28492532|PMID:30755392 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050952 spastic ataxia ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1312719 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:7240710 20180912 OMIM 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:22995991|PMID:25179549|PMID:25214167|PMID:25587064|PMID:25741868|PMID:26094658|PMID:26467025|PMID:27632638|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30755392|PMID:9536098 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11383 cryptorchidism IAGP D RGD:12911229|PMID:26502805 20170713 RGD DNA:deletion:exon: 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312719 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:26467025|PMID:28492532 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312719 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:1969 cerebral palsy ISO RGD:1312719 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:28492532 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1312719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1305248 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1305250 Pdzrn3 PDZ domain containing RING finger 3 gene DOID:630 genetic disease ISO RGD:1313169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305250 Pdzrn3 PDZ domain containing RING finger 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313169 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305250 Pdzrn3 PDZ domain containing RING finger 3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313169 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1305250 Pdzrn3 PDZ domain containing RING finger 3 gene DOID:9007661 Dwarfism ISO RGD:1313169 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1305251 Rnf152 ring finger protein 152 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1305251 Rnf152 ring finger protein 152 gene DOID:630 genetic disease ISO RGD:1313171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305252 Rnf135 ring finger protein 135 gene DOID:0060041 autism spectrum disorder ISO RGD:1313173 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17632510|PMID:30665703|PMID:30763456 1305252 Rnf135 ring finger protein 135 gene DOID:0060403 chromosome 17q11.2 deletion syndrome ISO RGD:1313173 D RGD:11554173 20220920 CTD CTD Direct Evidence: marker/mechanism PMID:17632510 1305252 Rnf135 ring finger protein 135 gene DOID:0060403 chromosome 17q11.2 deletion syndrome ISO RGD:1313173 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome PMID:17632510|PMID:21681106|PMID:25741868|PMID:27535533|PMID:28135719|PMID:30665703|PMID:30763456 1305252 Rnf135 ring finger protein 135 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1313173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1305252 Rnf135 ring finger protein 135 gene DOID:1969 cerebral palsy ISO RGD:1313173 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1305252 Rnf135 ring finger protein 135 gene DOID:630 genetic disease ISO RGD:1313173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305252 Rnf135 ring finger protein 135 gene DOID:9006257 Growth Disorders ISO RGD:1313173 D RGD:11554173 20220920 CTD CTD Direct Evidence: marker/mechanism PMID:17632510 1305252 Rnf135 ring finger protein 135 gene DOID:9008086 Developmental Disabilities ISO RGD:1313173 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1305253 Otor otoraplin gene DOID:630 genetic disease ISO RGD:1313174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305254 Cemip cell migration inducing hyaluronidase 1 gene DOID:0050726 tyrosinemia type I ISO RGD:1313176 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 1305254 Cemip cell migration inducing hyaluronidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1313176 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305254 Cemip cell migration inducing hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1313176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305254 Cemip cell migration inducing hyaluronidase 1 gene DOID:9256 colorectal cancer ISO RGD:1313176 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305255 Tbc1d30 TBC1 domain family, member 30 gene DOID:630 genetic disease ISO RGD:2291766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305256 Lrrn4 leucine rich repeat neuronal 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1305256 Lrrn4 leucine rich repeat neuronal 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1305256 Lrrn4 leucine rich repeat neuronal 4 gene DOID:630 genetic disease ISO RGD:1313178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305258 Cwc25 CWC25 spliceosome-associated protein homolog gene DOID:630 genetic disease ISO RGD:1603211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:7240710 20140911 OMIM 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:22022284|PMID:25401298|PMID:25741868|PMID:26454370|PMID:26467025|PMID:27165006|PMID:28492532|PMID:30773800|PMID:31111429|PMID:32219868 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1313183 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia onset ISO RGD:1313183 D RGD:11532672|PMID:22022284 20160902 RGD DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:11532673|PMID:20725928 20160902 RGD DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human) 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:11532674|PMID:20208537 20160902 RGD DNA:missense mutations: :multiple 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:11532675|PMID:20354562 20160902 RGD DNA:missense mutation:exon:p.E700K (c.2098G>A) (human) 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:11532678|PMID:26868664 20160902 RGD DNA:missense mutation:exon:p.P688T (c.2062C>A) (human) 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:11534993|PMID:24814845 20160916 RGD DNA:deletion 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:7240710 20130221 OMIM 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:16251216|PMID:20208537|PMID:20354562|PMID:20725928|PMID:23777634|PMID:25401298|PMID:25741868|PMID:25741869|PMID:26454370|PMID:26467025|PMID:26633542|PMID:27165006|PMID:28444220|PMID:28492532|PMID:29053796|PMID:30773800|PMID:31111429|PMID:31327635|PMID:33956305 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313184 D RGD:11532671|PMID:25485680 20160902 RGD 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313183 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:7240710 20200902 OMIM 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868|PMID:26467025|PMID:26539208|PMID:26633542|PMID:28492532|PMID:29181157|PMID:32219868|PMID:32600459 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1313183 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:32219868 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1059 intellectual disability ISO RGD:1313183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:543 dystonia ISO RGD:1313183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:26467025|PMID:28492532|PMID:32219868 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:5723 optic atrophy ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:26539208|PMID:29181157|PMID:32219868 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1313183 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30773800|PMID:31111429|PMID:9536098 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 1305259 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1313183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20208537 1305260 Tmed6 transmembrane p24 trafficking protein 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1305260 Tmed6 transmembrane p24 trafficking protein 6 gene DOID:630 genetic disease ISO RGD:1346090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305261 Cyp4f18 cytochrome P450, family 4, subfamily f, polypeptide 18 gene DOID:630 genetic disease ISO RGD:1349362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305261 Cyp4f18 cytochrome P450, family 4, subfamily f, polypeptide 18 gene DOID:9000046 Poisoning ISO RGD:1349362 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 1305262 Golga3 golgin A3 gene DOID:630 genetic disease ISO RGD:1313187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305262 Golga3 golgin A3 gene DOID:9256 colorectal cancer ISO RGD:1313187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 1305263 Asap2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1313189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305264 Ttc27 tetratricopeptide repeat domain 27 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 1305264 Ttc27 tetratricopeptide repeat domain 27 gene DOID:607 paraplegia ISO RGD:1604350 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 1305264 Ttc27 tetratricopeptide repeat domain 27 gene DOID:630 genetic disease ISO RGD:1604350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305266 Phf10 PHD finger protein 10 gene DOID:630 genetic disease ISO RGD:1313192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:0060041 autism spectrum disorder ISS RGD:1313195 D RGD:13592920 20190516 MouseDO 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605412 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:3070 high grade glioma ISO RGD:1605412 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:5419 schizophrenia ISO RGD:1605412 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:630 genetic disease ISO RGD:1605412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605412 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305267 Arhgap32 Rho GTPase activating protein 32 gene DOID:9007661 Dwarfism ISO RGD:1605412 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305268 Amotl1 angiomotin-like 1 gene DOID:1059 intellectual disability ISO RGD:1313196 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305268 Amotl1 angiomotin-like 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1313196 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1305268 Amotl1 angiomotin-like 1 gene DOID:3070 high grade glioma ISO RGD:1313196 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 1305268 Amotl1 angiomotin-like 1 gene DOID:630 genetic disease ISO RGD:1313196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305268 Amotl1 angiomotin-like 1 gene DOID:9000918 Disease Progression ISO RGD:1313196 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 1305268 Amotl1 angiomotin-like 1 gene DOID:9003133 Hypertelorism ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:28492532|PMID:33026150 1305268 Amotl1 angiomotin-like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313196 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 1305269 Limch1 LIM and calponin homology domains 1 gene DOID:1790 malignant mesothelioma ISO RGD:1604823 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1305269 Limch1 LIM and calponin homology domains 1 gene DOID:303 substance-related disorder ISO RGD:1604823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305269 Limch1 LIM and calponin homology domains 1 gene DOID:630 genetic disease ISO RGD:1604823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305269 Limch1 LIM and calponin homology domains 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313199 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080600 COVID-19 ISO RGD:1313199 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:7240710 20130425 OMIM 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 31 PMID:16189705|PMID:17924349|PMID:18509552|PMID:23950152|PMID:25741868|PMID:26720483|PMID:28076437|PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10283 prostate cancer ISO RGD:1313199 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:30718709 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:3347 osteosarcoma ISO RGD:1313199 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:8501 fundus dystrophy ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17924349|PMID:18509552|PMID:22581970|PMID:23950152|PMID:26155838|PMID:26872967|PMID:28076437|PMID:28453362|PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9834 hyperopia ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:26720483|PMID:28492532 1305270 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9870 galactosemia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305271 Cldn22 claudin 22 gene DOID:630 genetic disease ISO RGD:1349320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305273 Lims2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:7240710 20190315 OMIM 1305273 Lims2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098 1305273 Lims2 LIM zinc finger domain containing 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1313204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 1305273 Lims2 LIM zinc finger domain containing 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1313204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1305273 Lims2 LIM zinc finger domain containing 2 gene DOID:1227 neutropenia ISO RGD:1313204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1305273 Lims2 LIM zinc finger domain containing 2 gene DOID:630 genetic disease ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25589244|PMID:25741868|PMID:28492532 1305274 Coa7 cytochrome c oxidase assembly factor 7 gene DOID:630 genetic disease ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305274 Coa7 cytochrome c oxidase assembly factor 7 gene DOID:9008083 Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 ISO RGD:1606511 D RGD:7240710 20190515 OMIM 1305274 Coa7 cytochrome c oxidase assembly factor 7 gene DOID:9008083 Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 PMID:25741868|PMID:27683825|PMID:28492532|PMID:29718187|PMID:30885959 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0050581 brachydactyly ISO RGD:1313207 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Brachydactyly 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:11537348|PMID:24932600 20160930 RGD DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12815588|PMID:15952209 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:7240710 20130221 OMIM 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly PMID:10932186|PMID:10932187|PMID:10986040|PMID:15952209|PMID:16049033|PMID:17665217|PMID:18252861|PMID:18414213|PMID:18831060|PMID:19640924|PMID:25741868|PMID:26284319|PMID:28492532 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313208 D RGD:11535948|PMID:18353862 20160923 RGD DNA:nonsense mutation:cds:p.W749X(mouse) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313208 D RGD:11537347|PMID:14745966 20160930 RGD 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1313207 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:28492532 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1313207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:11535949|PMID:25696018 20160923 RGD DNA:mutation:c.2273C>A; p.S758X (human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:11535951|PMID:19461659 20160923 RGD DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:11535952|PMID:21377971 20160923 RGD DNA:missense mutation:cds:c.2265C>A,p.Y755X(human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:11535953|PMID:24954533 20160923 RGD DNA:deletion:exon:c.1396-1398delAA, (human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:11537345|PMID:23238279 20160930 RGD DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12815588 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:7240710 20130221 OMIM 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:10700182|PMID:10932186|PMID:10986040|PMID:12919145|PMID:16199547|PMID:17101003|PMID:17576681|PMID:17665217|PMID:18252861|PMID:18414213|PMID:19461659|PMID:19533773|PMID:25741868|PMID:26284319|PMID:28492532|PMID:33937263|PMID:641944|PMID:9536098 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1313207 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:630 genetic disease ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18252861|PMID:25741868|PMID:26284319|PMID:28492532|PMID:9536098 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:674 cleft palate susceptibility ISO RGD:1313207 D RGD:11535950|PMID:22490406 20160923 RGD DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) 1305275 Ror2 receptor tyrosine kinase-like orphan receptor 2 gene DOID:9007661 Dwarfism ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:31680123|PMID:33937263 1305276 Rell2 RELT-like 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305276 Rell2 RELT-like 2 gene DOID:630 genetic disease ISO RGD:1313209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305276 Rell2 RELT-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313209 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305276 Rell2 RELT-like 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313212 D RGD:1331525|PMID:15118671 19990101 GAD 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313212 D RGD:4145359|PMID:19940503 20101101 RGD DNA:SNPs (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313213 D RGD:4145360|PMID:19635592 20101101 RGD mRNA:increased expression:lung 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma disease_progression ISO RGD:1313212 D RGD:4145380|PMID:17339047 20101102 RGD mRNA:increased expression:bronchus 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma no_association ISO RGD:1313212 D RGD:4145382|PMID:16893396 20101102 RGD DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:4145378|PMID:18778489 20101102 RGD DNA:SNPs: :multiple (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:4145379|PMID:17961406 20101102 RGD DNA:polymorphism: :p.M764T (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1313212 D RGD:4145361|PMID:19284602 20101101 RGD DNA:polymorphisms: :multiple (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1313212 D RGD:4145358|PMID:20156753 20101101 RGD DNA:polymorphisms (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1313212 D RGD:4145357|PMID:20003279 20101101 RGD DNA:polymorphisms: :multiple (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:4483 rhinitis susceptibility ISO RGD:1313212 D RGD:4145378|PMID:18778489 20101102 RGD DNA:SNPs: :multiple (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:4483 rhinitis susceptibility ISO RGD:1313212 D RGD:4145383|PMID:15298558 20101102 RGD DNA:SNPs: :multiple (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:630 genetic disease ISO RGD:1313212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1313212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17061022 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1313212 D RGD:1331525|PMID:15118671 19990101 GAD 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313212 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1313212 D RGD:4142862|PMID:19258923 20101101 RGD DNA:SNP: :rs2787094 c.2891G>C (human) 1305278 Adam33 ADAM metallopeptidase domain 33 gene DOID:9008939 Breast Neoplasms ISO RGD:1313212 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30226539 1305279 Cherp calcium homeostasis endoplasmic reticulum protein gene DOID:630 genetic disease ISO RGD:1313214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305280 Dazap1 DAZ associated protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1305280 Dazap1 DAZ associated protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1305280 Dazap1 DAZ associated protein 1 gene DOID:630 genetic disease ISO RGD:1313216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305280 Dazap1 DAZ associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313216 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305280 Dazap1 DAZ associated protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1313216 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 1305283 Cmc1 C-x(9)-C motif containing 1 gene DOID:630 genetic disease ISO RGD:1606956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305284 Zfp512b zinc finger protein 512B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305284 Zfp512b zinc finger protein 512B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305284 Zfp512b zinc finger protein 512B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305284 Zfp512b zinc finger protein 512B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606523 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1305284 Zfp512b zinc finger protein 512B gene DOID:630 genetic disease ISO RGD:1606523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305285 Postn periostin gene DOID:0060500 drug allergy ISO RGD:1313223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 1305285 Postn periostin gene DOID:0080010 bone structure disease ISS RGD:1313224 D RGD:13592920 20180518 MouseDO 1305285 Postn periostin gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1313223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 1305285 Postn periostin gene DOID:10763 hypertension IEP D RGD:10041050|PMID:21712488 20150511 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: 1305285 Postn periostin gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1313223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363622 1305285 Postn periostin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1313223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 1305285 Postn periostin gene DOID:1474 aggressive periodontitis ISS RGD:1313224 D RGD:13592920 20180518 MouseDO OMIM:170650 | OMIM:608526 1305285 Postn periostin gene DOID:5082 liver cirrhosis ISO RGD:1313223 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:32344006 1305285 Postn periostin gene DOID:5199 ureteral obstruction ISO RGD:1313224 D RGD:10040972|PMID:22167593 20150507 RGD mRNA,protein:increased expression:kidney: 1305285 Postn periostin gene DOID:5844 myocardial infarction IEP D RGD:10041024|PMID:24212842 20150508 RGD protein:increased expression:heart: 1305285 Postn periostin gene DOID:6000 congestive heart failure treatment IMP D RGD:10040999|PMID:15381649 20150507 RGD 1305285 Postn periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1313223 D RGD:10040951|PMID:16414453 20150506 RGD mRNA:increased expression:heart 1305285 Postn periostin gene DOID:630 genetic disease ISO RGD:1313223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305285 Postn periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313223 D RGD:10041046|PMID:24260297 20150511 RGD protein:increased expression:aorta: 1305285 Postn periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313224 D RGD:10041046|PMID:24260297 20150511 RGD protein:increased expression:aorta: 1305285 Postn periostin gene DOID:783 end stage renal disease IEP D RGD:10040972|PMID:22167593 20150507 RGD mRNA,protein:increased expression,increased secretion:kidney,urine: 1305285 Postn periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:10040972|PMID:22167593 20150507 RGD protein:increased secretion:urine: 1305285 Postn periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:10041032|PMID:22403621 20150508 RGD protein:increased expression:kidney: 1305285 Postn periostin gene DOID:824 periodontitis IEP D RGD:10041024|PMID:24212842 20150508 RGD protein:decreased expression:mandible: 1305285 Postn periostin gene DOID:90 degenerative disc disease IEP D RGD:10040995|PMID:23453657 20150507 RGD protein:increased expression:tail intervertebral disc: 1305285 Postn periostin gene DOID:90 degenerative disc disease ISO RGD:1313223 D RGD:10040995|PMID:23453657 20150507 RGD mRNA,protein:increased expression:nucleus pulposus: 1305285 Postn periostin gene DOID:9001600 Wounds and Injuries IEP D RGD:10040991|PMID:22681660 20150507 RGD protein:increased expression:skin: 1305285 Postn periostin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313224 D RGD:10040972|PMID:22167593 20150507 RGD mRNA,protein:increased expression:kidney: 1305285 Postn periostin gene DOID:9003234 Hypertensive Nephropathy disease_progression IEP D RGD:10041032|PMID:22403621 20150508 RGD mRNA,protein:increased expression:kidney: 1305285 Postn periostin gene DOID:9003936 Cardiomegaly severity IEP D RGD:10040951|PMID:16414453 20150506 RGD mRNA,protein:increased expression:left ventricle: 1305285 Postn periostin gene DOID:9004498 Cumulative Trauma Disorders IEP D RGD:10040958|PMID:19620321 20150506 RGD protein:increased expression:tendon,muscle,nerve: 1305285 Postn periostin gene DOID:9006182 Carotid Artery Injuries IEP D RGD:10040973|PMID:15514205 20150507 RGD mRNA,protein:increased expression:artery: 1305285 Postn periostin gene DOID:9006928 Viral Bronchiolitis ISO RGD:1313223 D RGD:38596342|PMID:28471975 20201023 RGD mRNA,protein:increased expression:nasal mucus 1305285 Postn periostin gene DOID:9007039 Ventricular Dysfunction IDA D RGD:10040999|PMID:15381649 20150507 RGD 1305285 Postn periostin gene DOID:9007621 Craniocerebral Trauma IEP D RGD:10041014|PMID:17878602 20150508 RGD 1305285 Postn periostin gene DOID:9008331 Tendon Injuries IEP D RGD:10041033|PMID:23149902 20150508 RGD protein:increased expression:achilles tendon: 1305285 Postn periostin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15731169 1305285 Postn periostin gene DOID:9008763 Femoral Fractures IEP D RGD:10040956|PMID:19006175 20150506 RGD mRNA,protein:increased expression:bone: 1305285 Postn periostin gene DOID:971 tendinitis IEP D RGD:2314473|PMID:19743505 20150508 RGD protein:increased expression:peritendon: 1305286 Plag1 PLAG1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1313225 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1305286 Plag1 PLAG1 zinc finger gene DOID:452 pleomorphic adenoma ISO RGD:1313225 D RGD:1599086|PMID:10029085 20070116 RGD 1305286 Plag1 PLAG1 zinc finger gene DOID:452 pleomorphic adenoma ISO RGD:1313225 D RGD:7240710 20130221 OMIM 1305286 Plag1 PLAG1 zinc finger gene DOID:630 genetic disease ISO RGD:1313225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305286 Plag1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:7240710 20200701 OMIM 1305286 Plag1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-russell syndrome 4 PMID:25741868|PMID:28796236 1305286 Plag1 PLAG1 zinc finger gene DOID:9006311 Lipoblastoma ISO RGD:1313225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16308870 1305286 Plag1 PLAG1 zinc finger gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1313225 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 1305287 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1604576 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1305287 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604576 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 1305287 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:630 genetic disease ISO RGD:1604576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305287 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28166811|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526 1305287 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267 1305287 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:9256 colorectal cancer ISO RGD:1604576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868|PMID:28492532 1305288 Haus4 HAUS augmin-like complex, subunit 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1305288 Haus4 HAUS augmin-like complex, subunit 4 gene DOID:630 genetic disease ISO RGD:1313228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305288 Haus4 HAUS augmin-like complex, subunit 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1305288 Haus4 HAUS augmin-like complex, subunit 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1305289 Tubal3 tubulin, alpha-like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313230 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305289 Tubal3 tubulin, alpha-like 3 gene DOID:5419 schizophrenia ISO RGD:1313230 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305289 Tubal3 tubulin, alpha-like 3 gene DOID:630 genetic disease ISO RGD:1313230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305290 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:12849 autistic disorder ISO RGD:1313231 D RGD:9743931|PMID:20632321 20150220 RGD mRNA:decreased expression:prefrontal cortex 1305290 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:2717 Bloom syndrome ISO RGD:1313231 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305290 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:5419 schizophrenia ISO RGD:1313231 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305290 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:630 genetic disease ISO RGD:1313231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305290 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:9256 colorectal cancer ISO RGD:1313231 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305291 Rasip1 Ras interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305292 Incenp inner centromere protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1305292 Incenp inner centromere protein gene DOID:1059 intellectual disability ISO RGD:1313235 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305292 Incenp inner centromere protein gene DOID:12712 nephronophthisis ISO RGD:1313235 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 1305292 Incenp inner centromere protein gene DOID:1909 melanoma ISO RGD:1313235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1305292 Incenp inner centromere protein gene DOID:630 genetic disease ISO RGD:1313235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305292 Incenp inner centromere protein gene DOID:9005539 Familial Prostate Cancer ISO RGD:1313235 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1305293 Fkbp7 FKBP prolyl isomerase 7 gene DOID:0090048 dystonia 16 ISO RGD:1313236 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 1305293 Fkbp7 FKBP prolyl isomerase 7 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 1305293 Fkbp7 FKBP prolyl isomerase 7 gene DOID:630 genetic disease ISO RGD:1313236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305294 Eif4g2 eukaryotic translation initiation factor 4, gamma 2 gene DOID:10763 hypertension IEP D RGD:10755511|PMID:12708758 20160129 RGD mRNA:increased expression:heart left ventricle 1305294 Eif4g2 eukaryotic translation initiation factor 4, gamma 2 gene DOID:1591 renovascular hypertension IEP D RGD:10755511|PMID:12708758 20160129 RGD mRNA:increased expression:heart left ventricle 1305294 Eif4g2 eukaryotic translation initiation factor 4, gamma 2 gene DOID:630 genetic disease ISO RGD:1313238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305294 Eif4g2 eukaryotic translation initiation factor 4, gamma 2 gene DOID:916 liver benign neoplasm ISO RGD:1313239 D RGD:10755510|PMID:9633945 20160129 RGD 1305295 Wfdc3 WAP four-disulfide core domain 3 gene DOID:2234 focal epilepsy ISO RGD:1313240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305295 Wfdc3 WAP four-disulfide core domain 3 gene DOID:630 genetic disease ISO RGD:1313240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305295 Wfdc3 WAP four-disulfide core domain 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1305296 R3hdml R3H domain containing-like gene DOID:2234 focal epilepsy ISO RGD:1313241 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305296 R3hdml R3H domain containing-like gene DOID:630 genetic disease ISO RGD:1313241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305296 R3hdml R3H domain containing-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1305297 Rlf RLF zinc finger gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313242 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305297 Rlf RLF zinc finger gene DOID:630 genetic disease ISO RGD:1313242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305299 Arid3a AT-rich interaction domain 3A gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313245 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1305299 Arid3a AT-rich interaction domain 3A gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1305299 Arid3a AT-rich interaction domain 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1313245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1305299 Arid3a AT-rich interaction domain 3A gene DOID:630 genetic disease ISO RGD:1313245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305299 Arid3a AT-rich interaction domain 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1313245 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35179300 1305300 Krt35 keratin 35 gene DOID:630 genetic disease ISO RGD:1354440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:10283 prostate cancer ISO RGD:1313249 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:3459 breast carcinoma ISO RGD:1313249 D RGD:11041882|PMID:23556449 20160331 RGD mRNA:increased expression:breast (human) 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313249 D RGD:11046260|PMID:18788636 20160404 RGD mRNA, protein:increased expression:lung (human) 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313249 D RGD:11041871|PMID:19657357 20160330 RGD DNA:mutations:multiple (human) 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1313249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313249 D RGD:11041873|PMID:21932399 20160330 RGD mRNA:increased expression:liver (human) 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:11041887|PMID:22294766 20160401 RGD mRNA:increased expression:colorectal mucosa (human) 1305301 Abce1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1305302 Cdkn2aip CDKN2A interacting protein gene DOID:10283 prostate cancer ISO RGD:1604354 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305302 Cdkn2aip CDKN2A interacting protein gene DOID:630 genetic disease ISO RGD:1604354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:2316 brain ischemia IEP D RGD:7495802|PMID:21925238 20131213 RGD mRNA, protein:increased expression:cerebral cortex 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:630 genetic disease ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1313252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:7240710 20130221 OMIM 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated PMID:12637671|PMID:12925671|PMID:15520784|PMID:16199547|PMID:16647421|PMID:16950813|PMID:17114497|PMID:17312103|PMID:17544092|PMID:17576681|PMID:17878374|PMID:17893200|PMID:19663824|PMID:19814626|PMID:20621347|PMID:21057262|PMID:23538514|PMID:24033266|PMID:24316379|PMID:25344726|PMID:25741868|PMID:26472314|PMID:26698383|PMID:26825884|PMID:28492532|PMID:30073964|PMID:33083971|PMID:9536098|PMID:9789052 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9004384 Bacterial Infections and Mycoses susceptibility ISO RGD:1313252 D RGD:1600199|PMID:12637671 20070302 RGD deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9004484 Sepsis IEP D RGD:7495805|PMID:23073793 20131213 RGD 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313252 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:1313253 D RGD:7495804|PMID:15622543 20131213 RGD 1305303 Irak4 interleukin-1 receptor-associated kinase 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313252 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 1305304 Etnk2 ethanolamine kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1305304 Etnk2 ethanolamine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1313254 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305304 Etnk2 ethanolamine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313254 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305304 Etnk2 ethanolamine kinase 2 gene DOID:630 genetic disease ISO RGD:1313254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305304 Etnk2 ethanolamine kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1305304 Etnk2 ethanolamine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313254 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313256 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:5812 MHC class II deficiency ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:630 genetic disease ISO RGD:1313256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305305 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313256 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:0110916 hereditary spherocytosis type 1 ISS RGD:1313259 D RGD:13592920 20180518 MouseDO OMIM:182900 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:7240710 20130221 OMIM 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 5 PMID:10406914|PMID:12176912|PMID:1558976|PMID:19508687|PMID:2386772|PMID:25741868|PMID:28492532|PMID:7772513|PMID:7803799|PMID:8319790|PMID:8528207|PMID:8547071 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:12971 hereditary spherocytosis ISO RGD:1313258 D RGD:1598910|PMID:1558976 20061221 RGD 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:12971 hereditary spherocytosis ISO RGD:1313258 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:2717 Bloom syndrome ISO RGD:1313258 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:630 genetic disease ISO RGD:1313258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305306 Epb42 erythrocyte membrane protein band 4.2 gene DOID:9256 colorectal cancer ISO RGD:1313258 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305310 Neto2 neuropilin and tolloid like 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1305310 Neto2 neuropilin and tolloid like 2 gene DOID:0080600 COVID-19 ISO RGD:1313264 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305310 Neto2 neuropilin and tolloid like 2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1313264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 1305310 Neto2 neuropilin and tolloid like 2 gene DOID:10283 prostate cancer ISO RGD:1313264 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305310 Neto2 neuropilin and tolloid like 2 gene DOID:630 genetic disease ISO RGD:1313264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305310 Neto2 neuropilin and tolloid like 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1313264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1305311 Iqca1 IQ motif containing with AAA domain 1 gene DOID:1059 intellectual disability ISO RGD:1349054 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305311 Iqca1 IQ motif containing with AAA domain 1 gene DOID:630 genetic disease ISO RGD:1349054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305311 Iqca1 IQ motif containing with AAA domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1305313 Cnot7 CCR4-NOT transcription complex, subunit 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1313268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1305313 Cnot7 CCR4-NOT transcription complex, subunit 7 gene DOID:12336 male infertility IEP D RGD:10755341|PMID:22785219 20160125 RGD mRNA:increased expression:testis 1305313 Cnot7 CCR4-NOT transcription complex, subunit 7 gene DOID:630 genetic disease ISO RGD:1313268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305314 Zfp518a zinc finger protein 518A gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1348764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:17576681|PMID:24582315|PMID:25741868|PMID:28492532|PMID:9536098 1305314 Zfp518a zinc finger protein 518A gene DOID:630 genetic disease ISO RGD:1348764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305315 Rnf115 ring finger protein 115 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313271 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1305315 Rnf115 ring finger protein 115 gene DOID:1540 parathyroid carcinoma ISO RGD:1313271 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305315 Rnf115 ring finger protein 115 gene DOID:5419 schizophrenia ISO RGD:1313271 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305315 Rnf115 ring finger protein 115 gene DOID:630 genetic disease ISO RGD:1313271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305315 Rnf115 ring finger protein 115 gene DOID:9008939 Breast Neoplasms ISO RGD:1313271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 1305315 Rnf115 ring finger protein 115 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313271 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305316 Btd biotinidase gene DOID:0060417 3p deletion syndrome ISO RGD:1313273 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305316 Btd biotinidase gene DOID:1059 intellectual disability ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:14707518|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25174816|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27378695|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:31337602|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 1305316 Btd biotinidase gene DOID:11383 cryptorchidism ISO RGD:1313273 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cryptorchidism 1305316 Btd biotinidase gene DOID:12849 autistic disorder ISO RGD:1313273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:13680408 1305316 Btd biotinidase gene DOID:630 genetic disease ISO RGD:1313273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:1668630|PMID:18845537|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24525934|PMID:24797656|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:25754625|PMID:25967232|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26810761|PMID:27207447|PMID:27329734|PMID:27535533|PMID:27625817|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29995633|PMID:30912303|PMID:31208052|PMID:31337602|PMID:31801038|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33312878|PMID:34136440|PMID:7509806|PMID:9099842|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 1305316 Btd biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:7240710 20130221 OMIM 1305316 Btd biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:10206677|PMID:10394193|PMID:10400129|PMID:10655158|PMID:10801053|PMID:10801060|PMID:11313766|PMID:11380987|PMID:11668630|PMID:11865279|PMID:12227467|PMID:12359137|PMID:12618081|PMID:14628140|PMID:14707518|PMID:15059618|PMID:15060693|PMID:15776412|PMID:16199547|PMID:16435182|PMID:1668630|PMID:17185019|PMID:17382128|PMID:17576681|PMID:18645204|PMID:18845537|PMID:19728141|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:21907891|PMID:22011816|PMID:22106832|PMID:22698809|PMID:22863189|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24516753|PMID:24525934|PMID:24797656|PMID:24932929|PMID:25087612|PMID:25144890|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:25967232|PMID:25972378|PMID:26117549|PMID:26203071|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26635394|PMID:26656798|PMID:26810761|PMID:26990548|PMID:27207447|PMID:27329734|PMID:27378695|PMID:27533158|PMID:27535533|PMID:27625817|PMID:27629047|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28220409|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28649532|PMID:28649539|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29728376|PMID:29995633|PMID:30616616|PMID:30912303|PMID:31035122|PMID:31208052|PMID:31337602|PMID:31618753|PMID:31801038|PMID:31973013|PMID:31980526|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33223529|PMID:33312878|PMID:34136440|PMID:34448386|PMID:7509806|PMID:7550325|PMID:88555|PMID:9099842|PMID:9158148|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9506660|PMID:9536098|PMID:9654207|PMID:9705240 1305316 Btd biotinidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15469856 1305316 Btd biotinidase gene DOID:9008086 Developmental Disabilities ISO RGD:1313273 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1305317 Cntrl centriolin gene DOID:12712 nephronophthisis ISS RGD:1557555 D RGD:13592920 20180518 MouseDO 1305317 Cntrl centriolin gene DOID:630 genetic disease ISO RGD:1313275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305319 Ttll12 tubulin tyrosine ligase like 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604381 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1305319 Ttll12 tubulin tyrosine ligase like 12 gene DOID:1059 intellectual disability ISO RGD:1604381 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305319 Ttll12 tubulin tyrosine ligase like 12 gene DOID:630 genetic disease ISO RGD:1604381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305319 Ttll12 tubulin tyrosine ligase like 12 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604381 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1305320 Rcl1 RNA terminal phosphate cyclase-like 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1305320 Rcl1 RNA terminal phosphate cyclase-like 1 gene DOID:2468 psychotic disorder ISO RGD:1313278 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Psychotic disorder 1305320 Rcl1 RNA terminal phosphate cyclase-like 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313278 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305320 Rcl1 RNA terminal phosphate cyclase-like 1 gene DOID:630 genetic disease ISO RGD:1313278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305320 Rcl1 RNA terminal phosphate cyclase-like 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313278 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:7240710 20151111 OMIM 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24354524|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:30723866|PMID:31356216|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:9536098 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1313280 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25913036 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1313280 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313280 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:607 paraplegia ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1313280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24103465|PMID:24482476|PMID:25741868|PMID:25913036|PMID:28492532|PMID:28708278|PMID:32376792|PMID:9536098 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:6846 familial melanoma ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313280 D RGD:7240710 20230505 OMIM 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313280 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532|PMID:28708278 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:7240710 20181114 OMIM 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:30723866|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:9536098 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:7240710 20220112 OMIM 1305321 Mars1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive PMID:28492532|PMID:33909043 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1313282 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10488 imperforate anus ISO RGD:1313282 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imperforate anus 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10534 stomach cancer ISO RGD:1313282 D RGD:11538454|PMID:26549737 20220131 RGD mRNA:increased expression:stomach (human) 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:2043 hepatitis B ISO RGD:1313282 D RGD:151347673|PMID:21196414 20220131 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human) 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313282 D RGD:151347681|PMID:33510968 20220131 RGD protein:increased expression:lung (human) 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313282 D RGD:151347678|PMID:28306189 20220131 RGD human cell line in a mouse model 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:lung (human) PMID:22824148|REF_RGD_ID:151347677 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1313282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313282 D RGD:151347673|PMID:21196414 20220131 RGD human cell line in a mouse model 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313282 D RGD:151347674|PMID:27010469 20220131 RGD human recombinant gene and cell line in a mouse model 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313282 D RGD:151347839|PMID:31922225 20220202 RGD human cell line in a mouse model 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1313282 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:151347675|PMID:29138007 20220131 RGD mRNA:splicing variants:colorectum (human) 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:151347676|PMID:25602366 20220131 RGD mRNA:increased expression:colorectum (human) 1305322 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:151347679|PMID:27882171 20220131 RGD mRNA, protein:increased expression:colorectum, lymph node, blood serum (human) 1305323 Pla2g3 phospholipase A2, group III gene DOID:630 genetic disease ISO RGD:1313284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1313286 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1313286 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:7240710 20140911 OMIM 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:13938 amenorrhea ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:1921 Klinefelter syndrome ISO RGD:1313286 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:1923 disorder of sexual development ISO RGD:1313286 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:630 genetic disease ISO RGD:1313286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313286 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305324 Spry4 sprouty RTK signaling antagonist 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1313286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25822087 1305325 Plxna2 plexin A2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1305325 Plxna2 plexin A2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1305325 Plxna2 plexin A2 gene DOID:12849 autistic disorder ISO RGD:1313288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305325 Plxna2 plexin A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305325 Plxna2 plexin A2 gene DOID:5419 schizophrenia ISO RGD:1313288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 1305325 Plxna2 plexin A2 gene DOID:630 genetic disease ISO RGD:1313288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305325 Plxna2 plexin A2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1305325 Plxna2 plexin A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313288 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305326 Mcub mitochondrial calcium uniporter dominant negative subunit beta gene DOID:630 genetic disease ISO RGD:1602886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305327 Nol12 nucleolar protein 12 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1305327 Nol12 nucleolar protein 12 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1601850 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305327 Nol12 nucleolar protein 12 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305327 Nol12 nucleolar protein 12 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305327 Nol12 nucleolar protein 12 gene DOID:630 genetic disease ISO RGD:1601850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060041 autism spectrum disorder ISO RGD:1313295 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1313295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16116617|PMID:17576681|PMID:18347291|PMID:19131948|PMID:19890349|PMID:23621129|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:9536098 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1313295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:7240710 20130221 OMIM 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:11773004|PMID:16116617|PMID:16199547|PMID:17139268|PMID:17576681|PMID:18347291|PMID:18414213|PMID:19131948|PMID:19890349|PMID:20222929|PMID:22622417|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25524567|PMID:25741868|PMID:25998749|PMID:26762237|PMID:26863999|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:35052464|PMID:9536098 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1313295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:12177 common variable immunodeficiency ISO RGD:1313295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:1697 ichthyosis ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:16116617|PMID:19131948|PMID:19890349|PMID:24033266|PMID:25741868|PMID:27025581|PMID:28492532|PMID:31168818|PMID:34008892 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:2729 dyskeratosis congenita ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:299 adenocarcinoma ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:3910 lung adenocarcinoma ISO RGD:1313295 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:4450 renal cell carcinoma ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:4905 pancreatic carcinoma ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:630 genetic disease ISO RGD:1313295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9002928 Colonic Neoplasms ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9003124 Labrune Syndrome ISO RGD:1313295 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts 1305330 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1313295 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 1305331 Tpst2 tyrosylprotein sulfotransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313297 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1305331 Tpst2 tyrosylprotein sulfotransferase 2 gene DOID:0110271 cataract 23 ISO RGD:1313297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1305331 Tpst2 tyrosylprotein sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1313297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305332 Mdm2 MDM2 proto-oncogene gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1313299 D RGD:2317415|PMID:16505435 20100405 RGD protein:increased expression:biliary epithelium (human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:1313299 D RGD:11073731|PMID:22668018 20160504 RGD DNA:SNP:cds:309T>G(rs2279744)(human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14555611 1305332 Mdm2 MDM2 proto-oncogene gene DOID:10923 sickle cell anemia ISO RGD:1313300 D RGD:10412315|PMID:21085184 20151116 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:11054 urinary bladder cancer severity ISO RGD:1313299 D RGD:13602098|PMID:27798881 20180531 RGD mRNA:increased expression:bladder 1305332 Mdm2 MDM2 proto-oncogene gene DOID:1115 sarcoma ISO RGD:1313299 D RGD:2317412|PMID:1614537 20100405 RGD DNA:amplification:cds (human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:12336 male infertility ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 1305332 Mdm2 MDM2 proto-oncogene gene DOID:13677 SAPHO syndrome ISO RGD:1313299 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 1305332 Mdm2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098 1305332 Mdm2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098 1305332 Mdm2 MDM2 proto-oncogene gene DOID:1612 breast cancer IEP D RGD:2293626|PMID:15844214 20100402 RGD protein:increased expression:breast tumor (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:1697 ichthyosis ISO RGD:1313299 D RGD:10412066|PMID:24005053 20151113 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:1697 ichthyosis treatment IMP D RGD:10412066|PMID:24005053 20151113 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:1909 melanoma ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17210701 1305332 Mdm2 MDM2 proto-oncogene gene DOID:2055 post-traumatic stress disorder IDA D RGD:10412309|PMID:23174211 20151116 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:224 transient cerebral ischemia treatment IDA D RGD:10412310|PMID:24334056 20151116 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:3068 glioblastoma ISO RGD:1313299 D RGD:13702089|PMID:23796897 20180717 RGD DNA:amplication 1305332 Mdm2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma onset ISO RGD:1313299 D RGD:2317414|PMID:19752772 20100405 RGD DNA:snp:promoter, intron:IVS1+309T>G (human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1313299 D RGD:2317416|PMID:15810085 20100405 RGD protein:increased expression:pancreas (human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:3669 intermittent claudication treatment IEP D RGD:9586024|PMID:23658678 20151116 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19941079|PMID:21268124 1305332 Mdm2 MDM2 proto-oncogene gene DOID:409 liver disease onset IEP D RGD:2317409|PMID:14555611 20100402 RGD protein:increased expression:Enzyme altered focus (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313299 D RGD:2317417|PMID:15619210 20100405 RGD protein:increased expression:intrahepatic bile duct (human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:4989 pancreatitis IEP D RGD:2317361|PMID:19850968 20100330 RGD protein:increased expression:pancreas (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 1305332 Mdm2 MDM2 proto-oncogene gene DOID:630 genetic disease ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305332 Mdm2 MDM2 proto-oncogene gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313299 D RGD:2317357|PMID:20019189 20100330 RGD DNA:transversion:promoter:g.-309T>G (human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:8552 chronic myeloid leukemia onset ISO RGD:1313299 D RGD:13703044|PMID:23818300 20180730 RGD DNA:SNP:promoter:rs2279744(human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10412063|PMID:23595775 20151113 RGD protein:increased expression:spinal cord 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9000217 Stomach Neoplasms ISO RGD:1313299 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:31945315 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9000998 Brain Injuries IEP D RGD:2317397|PMID:15165363 20100402 RGD protein:increased expression:brain cortex (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2317395|PMID:15563574 20100402 RGD mRNA:decreased expression:cerebrum (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20875869 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9002395 Hypothermia IEP D RGD:2317393|PMID:15777295 20100402 RGD associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9002644 Premature Aging ISO RGD:1313300 D RGD:10412052|PMID:23766372 20151112 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1313299 D RGD:11073725|PMID:21706156 20160504 RGD associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9003292 Intracranial Subdural Hematoma treatment IMP D RGD:155882538|PMID:34334113 20230126 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome ISO RGD:1313299 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Lessel-kubisch syndrome PMID:28846075 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome susceptibility ISO RGD:1313299 D RGD:7240710 20230505 OMIM 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1313299 D RGD:11073715|PMID:24732641 20160504 RGD associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:1313300 D RGD:10412065|PMID:21498419 20151113 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10412313|PMID:23530877 20151116 RGD protein:increased degradation:myocardium 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation susceptibility ISO RGD:1313299 D RGD:7240710 20230505 OMIM 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2317401|PMID:14644432 20100402 RGD protein:increased serine phosphorylation:heart ventricle (rat) 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1313299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313299 D RGD:11251749|PMID:11064355 20160621 RGD 1305332 Mdm2 MDM2 proto-oncogene gene DOID:9286 priapism IEP D RGD:10412315|PMID:21085184 20151116 RGD protein:increased expression:corpus cavernosum 1305333 Gsc2 goosecoid homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313301 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1305333 Gsc2 goosecoid homeobox 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1305333 Gsc2 goosecoid homeobox 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1305333 Gsc2 goosecoid homeobox 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1313301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1305333 Gsc2 goosecoid homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1313301 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305333 Gsc2 goosecoid homeobox 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1305333 Gsc2 goosecoid homeobox 2 gene DOID:11372 megacolon ISO RGD:1313301 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1305333 Gsc2 goosecoid homeobox 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1305333 Gsc2 goosecoid homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1313301 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305333 Gsc2 goosecoid homeobox 2 gene DOID:1826 epilepsy ISO RGD:1313301 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305333 Gsc2 goosecoid homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1313301 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305333 Gsc2 goosecoid homeobox 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1313301 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1305333 Gsc2 goosecoid homeobox 2 gene DOID:630 genetic disease ISO RGD:1313301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305333 Gsc2 goosecoid homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313301 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305333 Gsc2 goosecoid homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1305333 Gsc2 goosecoid homeobox 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1313301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1305335 Ccdc89 coiled-coil domain containing 89 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1602421 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1305335 Ccdc89 coiled-coil domain containing 89 gene DOID:1059 intellectual disability ISO RGD:1602421 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305335 Ccdc89 coiled-coil domain containing 89 gene DOID:630 genetic disease ISO RGD:1602421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1313304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B, autosomal recessive | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:18469812|PMID:19084268|PMID:20887364|PMID:22722545|PMID:23977156|PMID:25741868|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29668686|PMID:34172529|PMID:34386584|PMID:8335685 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1313304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0090040 torsion dystonia 7 ISO RGD:1313304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22447717 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1313304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17508423 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:543 dystonia ISO RGD:1313304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222958 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:543 dystonia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:22447717|PMID:25778706|PMID:28492532|PMID:9536098 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:19084268|PMID:23781021|PMID:23977156|PMID:25741868|PMID:26467025|PMID:26611353|PMID:28492532|PMID:28667181|PMID:29668686|PMID:8335685 1305336 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1305337 Triml1 tripartite motif family-like 1 gene DOID:10283 prostate cancer ISO RGD:1605231 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305337 Triml1 tripartite motif family-like 1 gene DOID:12849 autistic disorder ISO RGD:1605231 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305337 Triml1 tripartite motif family-like 1 gene DOID:2229 factor XI deficiency ISO RGD:1605231 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 1305337 Triml1 tripartite motif family-like 1 gene DOID:630 genetic disease ISO RGD:1605231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305337 Triml1 tripartite motif family-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605231 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305338 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313307 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:25741868 1305338 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313307 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1305338 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:11372 megacolon ISO RGD:1313307 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1305338 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:12849 autistic disorder ISO RGD:1313307 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305338 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1313307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305339 Dap3 death associated protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1305339 Dap3 death associated protein 3 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1313309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 1305339 Dap3 death associated protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305339 Dap3 death associated protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305339 Dap3 death associated protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305339 Dap3 death associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313309 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305339 Dap3 death associated protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305339 Dap3 death associated protein 3 gene DOID:630 genetic disease ISO RGD:1313309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305339 Dap3 death associated protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1305339 Dap3 death associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313309 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305340 Cep55 centrosomal protein 55 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 1305340 Cep55 centrosomal protein 55 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1313311 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 1305340 Cep55 centrosomal protein 55 gene DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly ISO RGD:1313311 D RGD:7240710 20190315 OMIM 1305340 Cep55 centrosomal protein 55 gene DOID:0080600 COVID-19 ISO RGD:1313311 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305340 Cep55 centrosomal protein 55 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1305340 Cep55 centrosomal protein 55 gene DOID:630 genetic disease ISO RGD:1313311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16198290|PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 1305340 Cep55 centrosomal protein 55 gene DOID:684 hepatocellular carcinoma ISO RGD:1313311 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305340 Cep55 centrosomal protein 55 gene DOID:893 Wilson disease ISO RGD:1313311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 1305340 Cep55 centrosomal protein 55 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1313311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0050553 JMP syndrome ISO RGD:1313312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0050700 cardiomyopathy ISS RGD:1552183 D RGD:13592920 20230330 MouseDO 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:7240710 20190315 OMIM 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Cataract 46 juvenile-onset PMID:23806086|PMID:23863954|PMID:24088041|PMID:26788539|PMID:31061923|PMID:4061486 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:10907 microcephaly ISO RGD:1313312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30905398 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:83 cataract ISO RGD:1313312 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9000495 Tremor ISO RGD:1313312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intention tremor PMID:25741868|PMID:30905398 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9005616 Micrognathism ISO RGD:1313312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868|PMID:30905398 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:25741868|PMID:30905398 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9007661 Dwarfism ISO RGD:1313312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:30905398 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9007917 Supernumerary Tooth ISO RGD:1313312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Teeth, supernumerary PMID:25741868|PMID:30905398 1305341 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:930 orbital disease ISO RGD:1313312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Proptosis PMID:25741868|PMID:30905398 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:11840 coronary artery vasospasm ISO RGD:1313314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911011 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:11840 coronary artery vasospasm ISO RGD:1313314 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to PMID:19911011 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313314 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:630 genetic disease ISO RGD:1313314 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:6846 familial melanoma ISO RGD:1313314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:9000026 Spastic Paraplegia 70, Autosomal Recessive ISO RGD:1313314 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305342 Arhgap9 Rho GTPase activating protein 9 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313316 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1313316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:1059 intellectual disability ISO RGD:1313316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313316 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:630 genetic disease ISO RGD:1313316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313316 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305343 Emilin2 elastin microfibril interfacer 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1313316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 1305344 Iglon5 IgLON family member 5 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:2302828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 1305344 Iglon5 IgLON family member 5 gene DOID:630 genetic disease ISO RGD:2302828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305345 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:7240710 20190612 OMIM 1305345 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 PMID:22237560|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:31487502|PMID:32071833|PMID:32514400|PMID:32533790 1305345 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:2661 myoepithelioma ISO RGD:1603670 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1305345 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1603670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31487502|PMID:32071833|PMID:32514400 1305346 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1313320 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1305346 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:303 substance-related disorder ISO RGD:1313320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305346 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:630 genetic disease ISO RGD:1313320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305346 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1313320 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1305347 RGD1305347 similar to RIKEN cDNA 2610528J11 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603568 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305347 RGD1305347 similar to RIKEN cDNA 2610528J11 gene DOID:630 genetic disease ISO RGD:1603568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305347 RGD1305347 similar to RIKEN cDNA 2610528J11 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305348 Cep152 centrosomal protein 152 gene DOID:0050569 Seckel syndrome ISO RGD:1604825 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:24033266|PMID:25741868 1305348 Cep152 centrosomal protein 152 gene DOID:0070007 Seckel syndrome 1 ISO RGD:1604825 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21131973 1305348 Cep152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:7240710 20140911 OMIM 1305348 Cep152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEP152-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 5 PMID:17576681|PMID:18414213|PMID:20598275|PMID:21131973|PMID:25741868|PMID:25996639|PMID:28492532|PMID:9536098 1305348 Cep152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:7240710 20140911 OMIM 1305348 Cep152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive PMID:18414213|PMID:20598275|PMID:21131973|PMID:24033266|PMID:25741868|PMID:25996639|PMID:28492532|PMID:34402213 1305348 Cep152 centrosomal protein 152 gene DOID:10907 microcephaly ISO RGD:1604825 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 1305348 Cep152 centrosomal protein 152 gene DOID:14323 Marfan syndrome ISO RGD:1604825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17492313|PMID:17657824|PMID:19293843|PMID:28492532 1305348 Cep152 centrosomal protein 152 gene DOID:2717 Bloom syndrome ISO RGD:1604825 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305348 Cep152 centrosomal protein 152 gene DOID:630 genetic disease ISO RGD:1604825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1305348 Cep152 centrosomal protein 152 gene DOID:9256 colorectal cancer ISO RGD:1604825 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305349 Pcdhb21 protocadherin beta 21 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1305349 Pcdhb21 protocadherin beta 21 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305349 Pcdhb21 protocadherin beta 21 gene DOID:630 genetic disease ISO RGD:1345982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305349 Pcdhb21 protocadherin beta 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305349 Pcdhb21 protocadherin beta 21 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345982 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1305349 Pcdhb21 protocadherin beta 21 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305350 2510039O18Rikl RIKEN cDNA 2510039O18 gene like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1305350 2510039O18Rikl RIKEN cDNA 2510039O18 gene like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602668 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1305350 2510039O18Rikl RIKEN cDNA 2510039O18 gene like gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 1305350 2510039O18Rikl RIKEN cDNA 2510039O18 gene like gene DOID:630 genetic disease ISO RGD:1602668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305350 2510039O18Rikl RIKEN cDNA 2510039O18 gene like gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1602668 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1604184 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0080690 RASopathy ISO RGD:1604184 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604184 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1604184 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:5419 schizophrenia ISO RGD:1604184 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:630 genetic disease ISO RGD:1604184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604184 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305351 Ccdc153 coiled-coil domain containing 153 gene DOID:9007661 Dwarfism ISO RGD:1604184 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305352 Lyar Ly1 antibody reactive gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604346 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1305352 Lyar Ly1 antibody reactive gene DOID:630 genetic disease ISO RGD:1604346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305353 Matn2 matrilin 2 gene DOID:630 genetic disease ISO RGD:1313328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305354 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1305354 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:10579 leukodystrophy ISO RGD:1313330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy 1305354 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1313330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305354 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313330 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12631110|PMID:14871398|PMID:17216251|PMID:17396119|PMID:19129241|PMID:20029656|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27884173|PMID:28059119|PMID:28492532|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0080322 polycystic kidney disease ISO RGD:1313332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31922066 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:28492532 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:11961012|PMID:12631110|PMID:12748344|PMID:15618242|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25525159|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29801666|PMID:29854973|PMID:30745910|PMID:31312213|PMID:31934206|PMID:33369211|PMID:33532864|PMID:33772369|PMID:9536098|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:7240710 20130221 OMIM 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:12748344|PMID:14582039|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24472419|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25525159|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26628290|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27469977|PMID:27859054|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28632965|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29204651|PMID:29496980|PMID:29801666|PMID:29854973|PMID:29873249|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30883042|PMID:30968591|PMID:31049720|PMID:31312213|PMID:31408864|PMID:31677115|PMID:31922066|PMID:32332277|PMID:32703181|PMID:32723786|PMID:32939031|PMID:33048202|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34584596|PMID:34625929|PMID:34746741|PMID:35369551|PMID:7987396|PMID:8787673|PMID:9195222|PMID:9536098|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1313332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 67 PMID:25741868 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0111365 benign familial hematuria ISO RGD:1313332 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0111365 benign familial hematuria ISO RGD:1313332 D RGD:7242047|PMID:19357112 20130322 RGD 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:0111365 benign familial hematuria ISO RGD:1313332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11961012|PMID:12325029|PMID:12631110|PMID:14582039|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:21196518|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29496980|PMID:29801666|PMID:29854973|PMID:30295827|PMID:30968591|PMID:31686460|PMID:31934206|PMID:32332277|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:8787673|PMID:9536098|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:10983 Alport syndrome ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:14871398|PMID:15618242|PMID:15880327|PMID:16199547|PMID:1721625|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:21196518|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24472419|PMID:24522496|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27365461|PMID:27884173|PMID:28059119|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28780565|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29496980|PMID:29924831|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30968591|PMID:31049720|PMID:31408864|PMID:31922066|PMID:32332277|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:9536098|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:1184 nephrotic syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12028435|PMID:15618242|PMID:17396119|PMID:19129241|PMID:20029656|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:28492532|PMID:31049720|PMID:31922066 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:2921 glomerulonephritis ISO RGD:1313332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:12325029|PMID:17216251|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:557 kidney disease ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14582039|PMID:1721625|PMID:17216251|PMID:17396119|PMID:22887978|PMID:24033266|PMID:25381091|PMID:25741868|PMID:26467025|PMID:27365461|PMID:28476686|PMID:28492532|PMID:29924831|PMID:30968591|PMID:32332277|PMID:32703181|PMID:33772369|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:630 genetic disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:783 end stage renal disease ISO RGD:1313332 D RGD:7242047|PMID:19357112 20130322 RGD 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:783 end stage renal disease ISO RGD:1313332 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:784 chronic kidney disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:12325029|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:32723786 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:9000363 Hematuria ISO RGD:1313332 D RGD:7242047|PMID:19357112 20130322 RGD 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:9000363 Hematuria ISO RGD:1313332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hematuria PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28844315|PMID:33772369 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:9004538 Hearing Loss ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17396119|PMID:24033287|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:29496980|PMID:30311386|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:7240710 20230505 OMIM 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:12325029|PMID:12631110|PMID:14582039|PMID:17396119|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28476686|PMID:28492532|PMID:30968591|PMID:32332277|PMID:32703181|PMID:9792860 1305355 Col4a4 collagen type IV alpha 4 chain gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1313332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25514610|PMID:25741868|PMID:28632965 1305356 Srek1ip1 SREK1-interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305356 Srek1ip1 SREK1-interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604479 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305357 Unc45a unc-45 myosin chaperone A gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1305357 Unc45a unc-45 myosin chaperone A gene DOID:13250 diarrhea ISO RGD:1603630 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868 1305357 Unc45a unc-45 myosin chaperone A gene DOID:2717 Bloom syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305357 Unc45a unc-45 myosin chaperone A gene DOID:630 genetic disease ISO RGD:1603630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305357 Unc45a unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:7240710 20210616 OMIM 1305357 Unc45a unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteootohepatoenteric syndrome PMID:25741868|PMID:28492532|PMID:29429573|PMID:31231135 1305358 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 1305358 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313336 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305358 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 1305358 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1313339 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:1059 intellectual disability ISO RGD:1313339 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1313339 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1313339 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1313339 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1305360 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:630 genetic disease ISO RGD:1313339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305361 Wfikkn2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1346693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305362 Fam114a2 family with sequence similarity 114, member A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305362 Fam114a2 family with sequence similarity 114, member A2 gene DOID:630 genetic disease ISO RGD:1313342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305362 Fam114a2 family with sequence similarity 114, member A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305363 Mapkap1 MAPK associated protein 1 gene DOID:630 genetic disease ISO RGD:1313344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305364 Crocc ciliary rootlet coiled-coil, rootletin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1305364 Crocc ciliary rootlet coiled-coil, rootletin gene DOID:5426 primary ovarian insufficiency ISO RGD:1313346 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1305364 Crocc ciliary rootlet coiled-coil, rootletin gene DOID:630 genetic disease ISO RGD:1313346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305366 Hs2st1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1313348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305366 Hs2st1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:7240710 20210317 OMIM 1305366 Hs2st1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurofacioskeletal syndrome with or without renal agenesis PMID:25741868|PMID:28492532|PMID:33159882 1305367 Gtpbp3 GTP binding protein 3 gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:7240710 20170301 OMIM 1305367 Gtpbp3 GTP binding protein 3 gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 PMID:16199547|PMID:25434004|PMID:25741868|PMID:28492532|PMID:33619562 1305367 Gtpbp3 GTP binding protein 3 gene DOID:1059 intellectual disability ISO RGD:1313350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25434004|PMID:28492532 1305367 Gtpbp3 GTP binding protein 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313350 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567 1305367 Gtpbp3 GTP binding protein 3 gene DOID:630 genetic disease ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30426380 1305367 Gtpbp3 GTP binding protein 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder PMID:25741868|PMID:28492532 1305367 Gtpbp3 GTP binding protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1313350 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 1305368 Klhl40 kelch-like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:7240710 20150708 OMIM 1305368 Klhl40 kelch-like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 8 PMID:16199547|PMID:17576681|PMID:23746549|PMID:24033266|PMID:24960163|PMID:25721947|PMID:25741868|PMID:26467025|PMID:26578207|PMID:27528495|PMID:27762439|PMID:28492532|PMID:28973083|PMID:31360996|PMID:32352246|PMID:32403337|PMID:9536098 1305368 Klhl40 kelch-like family member 40 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1313352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1305368 Klhl40 kelch-like family member 40 gene DOID:630 genetic disease ISO RGD:1313352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:10283 prostate cancer ISS RGD:1313355 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1313354 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:630 genetic disease ISO RGD:1313354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313354 D RGD:14401599|PMID:28972178 20190514 RGD mRNA:decreased expression:liver 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313354 D RGD:14401599|PMID:28972178 20190514 RGD human gene in a mouse model 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313354 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:16817226|PMID:17173048|PMID:17202838|PMID:22610119|PMID:32690948 1305369 Nkx3-1 NK3 homeobox 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1313354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1305370 Ift22 intraflagellar transport 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313356 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305370 Ift22 intraflagellar transport 22 gene DOID:630 genetic disease ISO RGD:1313356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305371 Sox17 SRY-box transcription factor 17 gene DOID:13608 biliary atresia ISS RGD:1313359 D RGD:13592920 20180518 MouseDO 1305371 Sox17 SRY-box transcription factor 17 gene DOID:4947 cholangiocarcinoma severity IEP D RGD:4889598|PMID:20816680 20110531 RGD 1305371 Sox17 SRY-box transcription factor 17 gene DOID:630 genetic disease ISO RGD:1313358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:7240710 20131030 OMIM 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 3 PMID:20960469|PMID:25741868|PMID:28492532|PMID:28566479 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9007337 Teratogenesis ISO RGD:1313358 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24154490 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313358 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18413743 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9620 vesicoureteral reflux ISO RGD:1313358 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 1305371 Sox17 SRY-box transcription factor 17 gene DOID:9620 vesicoureteral reflux ISO RGD:1313358 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:25741868 1305373 Eif6 eukaryotic translation initiation factor 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313362 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1305373 Eif6 eukaryotic translation initiation factor 6 gene DOID:630 genetic disease ISO RGD:1313362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305373 Eif6 eukaryotic translation initiation factor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1313362 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 1305374 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1305374 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1305374 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:2340 craniosynostosis ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1305374 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1313364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305374 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1305374 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9269 maple syrup urine disease ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1305375 Galk1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956 1305375 Galk1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:17576681|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9792864|PMID:9892956 1305375 Galk1 galactokinase 1 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 1305375 Galk1 galactokinase 1 gene DOID:0080600 COVID-19 ISO RGD:1313365 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305375 Galk1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:7240710 20180130 OMIM 1305375 Galk1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15322984|PMID:15590630|PMID:16199547|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:7670469|PMID:9536098 1305375 Galk1 galactokinase 1 gene DOID:630 genetic disease ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305375 Galk1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 1305375 Galk1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:1300192|PMID:7670469 20070111 RGD DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) 1305375 Galk1 galactokinase 1 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 1305375 Galk1 galactokinase 1 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:1313365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:12485428|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 1305375 Galk1 galactokinase 1 gene DOID:9870 galactosemia ISO RGD:1313365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 1305376 Srp68 signal recognition particle 68 gene DOID:37 skin disease ISO RGD:1313366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1305376 Srp68 signal recognition particle 68 gene DOID:630 genetic disease ISO RGD:1313366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305376 Srp68 signal recognition particle 68 gene DOID:9007964 Arsenic Poisoning ISO RGD:1313366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1305376 Srp68 signal recognition particle 68 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1305377 Best2 bestrophin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1313368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1305377 Best2 bestrophin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1313368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1305377 Best2 bestrophin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1313368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1305377 Best2 bestrophin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1313368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1305377 Best2 bestrophin 2 gene DOID:630 genetic disease ISO RGD:1313368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305378 Mtmr6 myotubularin related protein 6 gene DOID:630 genetic disease ISO RGD:1313370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:1313372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 PMID:25741868 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISS RGD:1313373 D RGD:13592920 20180518 MouseDO OMIM:204200 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1313372 D RGD:14696742|PMID:26740945 20190723 RGD DNA:SNP: :rs3737964(human) 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:630 genetic disease ISO RGD:1313372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:7240710 20221116 OMIM 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities PMID:25741868|PMID:33217309 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1313372 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1305379 Clcn6 chloride voltage-gated channel 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1313372 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33217309 1305381 Relt RELT, TNF receptor gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313376 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1305381 Relt RELT, TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:7240710 20190424 OMIM 1305381 Relt RELT, TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c PMID:28492532|PMID:30506946|PMID:32052416 1305381 Relt RELT, TNF receptor gene DOID:1059 intellectual disability ISO RGD:1313376 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305381 Relt RELT, TNF receptor gene DOID:630 genetic disease ISO RGD:1313376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:0080600 COVID-19 ISO RGD:1313378 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:2234 focal epilepsy ISO RGD:1313378 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:630 genetic disease ISO RGD:1313378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:684 hepatocellular carcinoma ISO RGD:1313378 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:9004814 Chromosome Aberrations ISO RGD:1313378 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27129209 1305382 Ube2c ubiquitin-conjugating enzyme E2C gene DOID:9008939 Breast Neoplasms ISO RGD:1313378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 1305383 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1313380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1305383 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1313380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1305383 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1305383 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:630 genetic disease ISO RGD:1313380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305383 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305383 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1313380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:7240710 20170412 OMIM 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25751282|PMID:28492532|PMID:30564185|PMID:30911584|PMID:9536098 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:1909 melanoma ISO RGD:1313382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:574 peripheral nervous system disease ISO RGD:1313382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:607 paraplegia ISO RGD:1313382 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 1305384 Cpt1c carnitine palmitoyltransferase 1c gene DOID:630 genetic disease ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305385 Hrob homologous recombination factor with OB-fold gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1602101 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 1305385 Hrob homologous recombination factor with OB-fold gene DOID:5426 primary ovarian insufficiency ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency 1305386 Fnbp1l formin binding protein 1-like gene DOID:630 genetic disease ISO RGD:1346897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305387 Hsdl2 hydroxysteroid dehydrogenase like 2 gene DOID:630 genetic disease ISO RGD:1350650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305387 Hsdl2 hydroxysteroid dehydrogenase like 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350650 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 1305388 Josd1 Josephin domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1305388 Josd1 Josephin domain containing 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1604837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305388 Josd1 Josephin domain containing 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305388 Josd1 Josephin domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305388 Josd1 Josephin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604837 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305390 Plk4 polo-like kinase 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1313392 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1305390 Plk4 polo-like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:7240710 20171018 OMIM 1305390 Plk4 polo-like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 PMID:17576681|PMID:25320347|PMID:25344692|PMID:25741868|PMID:28492532|PMID:30842647|PMID:9536098 1305390 Plk4 polo-like kinase 4 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1313392 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 1305390 Plk4 polo-like kinase 4 gene DOID:10907 microcephaly ISO RGD:1313392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 1305390 Plk4 polo-like kinase 4 gene DOID:10907 microcephaly ISO RGD:1313392 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1305390 Plk4 polo-like kinase 4 gene DOID:219 colon cancer ISO RGD:1313392 D RGD:11075990|PMID:26439168 20200521 RGD protein:increased expression:colon 1305390 Plk4 polo-like kinase 4 gene DOID:3007 breast ductal carcinoma ISO RGD:1313392 D RGD:11075990|PMID:26439168 20200521 RGD protein:increased expression:breast 1305390 Plk4 polo-like kinase 4 gene DOID:630 genetic disease ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1305390 Plk4 polo-like kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313392 D RGD:27226690|PMID:21324136 20200521 RGD DNA:hypermethylation:promoter 1305390 Plk4 polo-like kinase 4 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1313393 D RGD:27226690|PMID:21324136 20200521 RGD 1305390 Plk4 polo-like kinase 4 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1313392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 1305390 Plk4 polo-like kinase 4 gene DOID:9007661 Dwarfism ISO RGD:1313392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 1305391 Nap1l4 nucleosome assembly protein 1-like 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1305391 Nap1l4 nucleosome assembly protein 1-like 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1313394 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1305391 Nap1l4 nucleosome assembly protein 1-like 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1305391 Nap1l4 nucleosome assembly protein 1-like 4 gene DOID:630 genetic disease ISO RGD:1313394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305391 Nap1l4 nucleosome assembly protein 1-like 4 gene DOID:9002669 Hypoxia IEP D RGD:9590077|PMID:24893663 20141112 RGD protein:decreased dimerization:hippocampus (rat) 1305393 Tigd3 tigger transposable element derived 3 gene DOID:1059 intellectual disability ISO RGD:1313398 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305393 Tigd3 tigger transposable element derived 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305393 Tigd3 tigger transposable element derived 3 gene DOID:2746 glycogen storage disease V ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305393 Tigd3 tigger transposable element derived 3 gene DOID:3070 high grade glioma ISO RGD:1313398 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1305393 Tigd3 tigger transposable element derived 3 gene DOID:630 genetic disease ISO RGD:1313398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305393 Tigd3 tigger transposable element derived 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1305393 Tigd3 tigger transposable element derived 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1305394 Acy3 aminoacylase 3 gene DOID:1059 intellectual disability ISO RGD:1352202 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305394 Acy3 aminoacylase 3 gene DOID:630 genetic disease ISO RGD:1352202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305394 Acy3 aminoacylase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1305394 Acy3 aminoacylase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:1909 melanoma ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:6039 uveal melanoma ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:630 genetic disease ISO RGD:1313400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:8923 skin melanoma ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9003566 Mesothelioma ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305395 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9008939 Breast Neoplasms ISO RGD:1313400 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 1305397 Rbsn rabenosyn, RAB effector gene DOID:0060417 3p deletion syndrome ISO RGD:1313404 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305397 Rbsn rabenosyn, RAB effector gene DOID:630 genetic disease ISO RGD:1313404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28257693 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:7240710 20190315 OMIM 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 60 PMID:25741868|PMID:28257693 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1313406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:12849 autistic disorder ISO RGD:1313406 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:5419 schizophrenia ISO RGD:1313406 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305398 Taf13 TATA-box binding protein associated factor 13 gene DOID:630 genetic disease ISO RGD:1313406 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1313408 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1313408 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0111995 immunodeficiency 28 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:10533 viral pneumonia ISO RGD:1313409 D RGD:5490272|PMID:21383977 20110912 RGD H1N1 virus susceptibility 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:10533 viral pneumonia disease_progression ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:21383977|REF_RGD_ID:5490272 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1313409 D RGD:124715479|PMID:24760883 20210326 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1313409 D RGD:124715467|PMID:28878077 20210325 RGD DNA:mutation: : 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:1883 hepatitis C resistance ISO RGD:1313408 D RGD:5147491|PMID:21756311 20110809 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:552 pneumonia ISO RGD:1313409 D RGD:5490275|PMID:18566423 20110912 RGD Cryptococcus (yeast) pneumonia 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:552 pneumonia resistance ISO RGD:1313409 D RGD:9068941 20200609 RGD Cryptococcus (yeast) pneumonia PMID:18566423|REF_RGD_ID:5490275 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1313408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:8704 genital herpes exacerbates ISO RGD:1313409 D RGD:125093738|PMID:28264883 20210329 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:874 bacterial pneumonia ISO RGD:1313409 D RGD:5490274|PMID:19487810 20110912 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:19487810|REF_RGD_ID:5490274 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1313409 D RGD:5490273|PMID:19603548 20110912 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9001049 Staphylococcal Pneumonia susceptibility ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:19603548|REF_RGD_ID:5490273 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20201210 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections susceptibility IMP D RGD:12910492|PMID:27999109 20170616 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1313408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections PMID:25741868|PMID:28492532|PMID:31270247|PMID:32960813|PMID:33252644|PMID:34713375|PMID:35091979|PMID:35442418|PMID:35708626 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 susceptibility ISO RGD:1313408 D RGD:7240710 20220720 OMIM 1305399 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:934 viral infectious disease ISO RGD:1313408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18722370 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1606742 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:7240710 20130221 OMIM 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:14508710|PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:17268193|PMID:17928003|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21419568|PMID:21599812|PMID:22302102|PMID:22378146|PMID:23032108|PMID:23850684|PMID:24075313|PMID:24128679|PMID:25341883|PMID:25689425|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362|PMID:7825577 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:1059 intellectual disability ISO RGD:1606742 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:1932 Angelman syndrome ISO RGD:1606742 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:5419 schizophrenia ISO RGD:1606742 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:607 paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1305401 Nipa1 NIPA magnesium transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606742 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1305402 Commd8 COMM domain containing 8 gene DOID:630 genetic disease ISO RGD:1313413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305403 Ankrd34c ankyrin repeat domain 34C gene DOID:2717 Bloom syndrome ISO RGD:2291762 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305403 Ankrd34c ankyrin repeat domain 34C gene DOID:630 genetic disease ISO RGD:2291762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305403 Ankrd34c ankyrin repeat domain 34C gene DOID:9256 colorectal cancer ISO RGD:2291762 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313416 D RGD:153323337|PMID:30453282 20220817 RGD human cells in mouse model 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:630 genetic disease ISO RGD:1313416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313416 D RGD:153323333|PMID:24892551 20220817 RGD protein:increased expression:blood serum (human) 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313417 D RGD:153323333|PMID:24892551 20220817 RGD protein:increased expression:blood serum (mouse) 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313416 D RGD:153323335|PMID:21394108 20220817 RGD human cells in mouse model 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313416 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:30453282 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1313416 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:30453282 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1313416 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:30453282 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313416 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313416 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:30453282 1305404 Lect2 leukocyte cell-derived chemotaxin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305405 Zcwpw1 zinc finger CW-type and PWWP domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313418 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305405 Zcwpw1 zinc finger CW-type and PWWP domain containing 1 gene DOID:630 genetic disease ISO RGD:1313418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305406 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:7240710 20200226 OMIM 1305406 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 11 PMID:25741868|PMID:30879640 1305406 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:9586357|PMID:24615205 20140929 RGD mRNA:decreased expression:thoracic aorta 1305406 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:630 genetic disease ISO RGD:1313419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305406 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1313419 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1305406 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:987 alopecia ISO RGD:1313419 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 1305407 Ky kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:7240710 20190315 OMIM 1305407 Ky kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 1305407 Ky kyphoscoliosis peptidase gene DOID:0080307 myofibrillar myopathy ISO RGD:1313421 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1305407 Ky kyphoscoliosis peptidase gene DOID:0080600 COVID-19 ISO RGD:1313421 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305407 Ky kyphoscoliosis peptidase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313421 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 1305407 Ky kyphoscoliosis peptidase gene DOID:630 genetic disease ISO RGD:1313421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305407 Ky kyphoscoliosis peptidase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313421 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1305408 Foxk2 forkhead box K2 gene DOID:12336 male infertility ISO RGD:1313423 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32522586 1305408 Foxk2 forkhead box K2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313423 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 1305408 Foxk2 forkhead box K2 gene DOID:630 genetic disease ISO RGD:1313423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305410 Ttc17 tetratricopeptide repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1313426 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305410 Ttc17 tetratricopeptide repeat domain 17 gene DOID:630 genetic disease ISO RGD:1313426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305411 Cdc34 cell division cycle 34, ubiqiutin conjugating enzyme gene DOID:630 genetic disease ISO RGD:1313428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305412 Rexo5 RNA exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305413 Mroh2b maestro heat-like repeat family member 2B gene DOID:630 genetic disease ISO RGD:1604530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305413 Mroh2b maestro heat-like repeat family member 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604530 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:1540 parathyroid carcinoma ISO RGD:1313432 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:630 genetic disease ISO RGD:1313432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:9480236|PMID:19609968 20141022 RGD protein:decreased expression:liver, cytosolic proteasome complex 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:9588240|PMID:24189580 20141022 RGD mRNA, protein:decreased expression:testis 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9588239|PMID:23500140 20141022 RGD 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1313432 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 1305414 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313432 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305415 Micall1 MICAL-like 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1305415 Micall1 MICAL-like 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1602200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305415 Micall1 MICAL-like 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305415 Micall1 MICAL-like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305415 Micall1 MICAL-like 1 gene DOID:630 genetic disease ISO RGD:1602200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305417 Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1313436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305417 Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:9970 obesity ISO RGD:1313436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:7240710 20130221 OMIM 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 PMID:10447505|PMID:16199547|PMID:17576681|PMID:17847012|PMID:18414213|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24047924|PMID:24123792|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25809939|PMID:26083569|PMID:26467025|PMID:26795593|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:27683254|PMID:28492532|PMID:29881806|PMID:30634555|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31536827|PMID:31618753|PMID:31665838|PMID:32313153|PMID:32725632|PMID:32860008|PMID:33209735|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34247374|PMID:34445196|PMID:34717047|PMID:9536098 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1313439 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: SLC35A1-CDG PMID:24033266|PMID:28492532 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070338 cerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25533962|PMID:25741868|PMID:2706168|PMID:27061686|PMID:28492532|PMID:29881806|PMID:31429931|PMID:31474318 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313439 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Severe intellectual deficiency 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1826 epilepsy ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 1305419 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:17576681|PMID:20635367|PMID:20952379|PMID:22569581|PMID:2259581|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:28492532|PMID:30006346|PMID:31102535|PMID:31216405|PMID:34085948|PMID:34717047|PMID:34869784|PMID:9536098 1305420 Trmo tRNA methyltransferase O gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1305420 Trmo tRNA methyltransferase O gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1305420 Trmo tRNA methyltransferase O gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1305420 Trmo tRNA methyltransferase O gene DOID:1059 intellectual disability ISO RGD:1313441 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305420 Trmo tRNA methyltransferase O gene DOID:12712 nephronophthisis ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1305420 Trmo tRNA methyltransferase O gene DOID:14004 thoracic aortic aneurysm ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1305420 Trmo tRNA methyltransferase O gene DOID:630 genetic disease ISO RGD:1313441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305420 Trmo tRNA methyltransferase O gene DOID:9001793 Generalized Epilepsy ISO RGD:1313441 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1305422 Rubcn rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:7240710 20151216 OMIM 1305422 Rubcn rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 PMID:20826435|PMID:23728897|PMID:25741868|PMID:28492532|PMID:30237576|PMID:32450808 1305422 Rubcn rubicon autophagy regulator gene DOID:630 genetic disease ISO RGD:1353596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305422 Rubcn rubicon autophagy regulator gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353596 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1305422 Rubcn rubicon autophagy regulator gene DOID:9008086 Developmental Disabilities ISO RGD:1353596 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 1305422 Rubcn rubicon autophagy regulator gene DOID:9074 systemic lupus erythematosus ISS RGD:1313444 D RGD:13592920 20190502 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1305423 Efcab3 EF-hand calcium binding domain 3 gene DOID:630 genetic disease ISO RGD:1603895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305424 Tspan11 tetraspanin 11 gene DOID:630 genetic disease ISO RGD:1604416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305429 Kdm5a lysine demethylase 5A gene DOID:10283 prostate cancer ISO RGD:1313452 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 1305429 Kdm5a lysine demethylase 5A gene DOID:1059 intellectual disability ISO RGD:1313452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1305429 Kdm5a lysine demethylase 5A gene DOID:1059 intellectual disability ISO RGD:1313452 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1305429 Kdm5a lysine demethylase 5A gene DOID:11383 cryptorchidism IEP D RGD:9588526|PMID:24679876 20141030 RGD mRNA:increased expression:testes (rat) 1305429 Kdm5a lysine demethylase 5A gene DOID:1612 breast cancer severity ISO RGD:1313452 D RGD:9586731|PMID:23266085 20141003 RGD mRNA:decreased expression:breast (human) 1305429 Kdm5a lysine demethylase 5A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313452 D RGD:9588530|PMID:25162518 20141030 RGD protein:increased expression:lung (human) 1305429 Kdm5a lysine demethylase 5A gene DOID:5517 stomach carcinoma ISO RGD:1313452 D RGD:9588529|PMID:23794145 20141030 RGD mRNA:increased expression:stomach (human) 1305429 Kdm5a lysine demethylase 5A gene DOID:630 genetic disease ISO RGD:1313452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305429 Kdm5a lysine demethylase 5A gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1313452 D RGD:9588532|PMID:24069348 20141030 RGD DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) 1305429 Kdm5a lysine demethylase 5A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313452 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1305429 Kdm5a lysine demethylase 5A gene DOID:986 alopecia areata ISO RGD:1313452 D RGD:9587460|PMID:21936853 20141015 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1305430 Cdh18 cadherin 18 gene DOID:0111275 speech-language disorder-1 ISO RGD:1313454 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 1305430 Cdh18 cadherin 18 gene DOID:630 genetic disease ISO RGD:1313454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305430 Cdh18 cadherin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313454 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305431 Ubl3 ubiquitin-like 3 gene DOID:630 genetic disease ISO RGD:1313456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305432 Siglec5 sialic acid binding Ig-like lectin 5 gene DOID:10283 prostate cancer ISO RGD:1348004 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1305432 Siglec5 sialic acid binding Ig-like lectin 5 gene DOID:630 genetic disease ISO RGD:1348004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305432 Siglec5 sialic acid binding Ig-like lectin 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348004 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 1305433 Gramd1c GRAM domain containing 1C gene DOID:630 genetic disease ISO RGD:1606791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0080600 COVID-19 ISO RGD:1603703 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1826 epilepsy ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1909 melanoma ISO RGD:1603703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:630 genetic disease ISO RGD:1603703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305434 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1603703 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305435 Cdk19 cyclin-dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:7240710 20200701 OMIM 1305435 Cdk19 cyclin-dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 1305435 Cdk19 cyclin-dependent kinase 19 gene DOID:10907 microcephaly ISO RGD:1343762 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1305435 Cdk19 cyclin-dependent kinase 19 gene DOID:630 genetic disease ISO RGD:1343762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32330417 1305435 Cdk19 cyclin-dependent kinase 19 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316019|PMID:18008145 20141121 RGD mRNA, protein:increased expression:spinal cord 1305435 Cdk19 cyclin-dependent kinase 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343762 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305436 Rpp14 ribonuclease P/MRP subunit p14 gene DOID:630 genetic disease ISO RGD:1313464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305436 Rpp14 ribonuclease P/MRP subunit p14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1313464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0050777 Joubert syndrome ISO RGD:1313466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313466 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:7240710 20190315 OMIM 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 23 PMID:25741868|PMID:28206990|PMID:28492532|PMID:29790874|PMID:31479588 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1313466 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:10283 prostate cancer ISO RGD:1313466 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313466 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 1305437 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:630 genetic disease ISO RGD:1313466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305438 Cdh20 cadherin 20 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313468 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1305438 Cdh20 cadherin 20 gene DOID:11193 syndactyly ISO RGD:1313468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 1305438 Cdh20 cadherin 20 gene DOID:630 genetic disease ISO RGD:1313468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305439 Best3 bestrophin 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313470 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1305439 Best3 bestrophin 3 gene DOID:630 genetic disease ISO RGD:1313470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305440 Ubox5 U-box domain containing 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1605087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1305440 Ubox5 U-box domain containing 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1305440 Ubox5 U-box domain containing 5 gene DOID:630 genetic disease ISO RGD:1605087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305440 Ubox5 U-box domain containing 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1305441 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:0050777 Joubert syndrome ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305441 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1305441 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:10283 prostate cancer ISO RGD:1602680 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305441 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:1059 intellectual disability ISO RGD:1602680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305441 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:630 genetic disease ISO RGD:1602680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305442 Tm2d1 TM2 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602315 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1305442 Tm2d1 TM2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305443 Gramd1b GRAM domain containing 1B gene DOID:1059 intellectual disability ISO RGD:1606522 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1305443 Gramd1b GRAM domain containing 1B gene DOID:5419 schizophrenia ISO RGD:1606522 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305443 Gramd1b GRAM domain containing 1B gene DOID:630 genetic disease ISO RGD:1606522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305443 Gramd1b GRAM domain containing 1B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606522 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305443 Gramd1b GRAM domain containing 1B gene DOID:9007661 Dwarfism ISO RGD:1606522 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305444 Prrg2 proline rich and Gla domain 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1305444 Prrg2 proline rich and Gla domain 2 gene DOID:630 genetic disease ISO RGD:1313475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305445 Ltf lactotransferrin gene DOID:0050589 inflammatory bowel disease ISO RGD:1313477 D RGD:7243943|PMID:9791051 20130521 RGD 1305445 Ltf lactotransferrin gene DOID:10763 hypertension ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24587916 1305445 Ltf lactotransferrin gene DOID:11476 osteoporosis ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16648989|PMID:16936800 1305445 Ltf lactotransferrin gene DOID:13250 diarrhea ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:13689 prostate calculus ISO RGD:1313477 D RGD:7243107|PMID:19202053 20130502 RGD 1305445 Ltf lactotransferrin gene DOID:14262 oral candidiasis ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:14566 disease of cellular proliferation ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:1508 candidiasis ISO RGD:1313477 D RGD:7243948|PMID:17922408 20130521 RGD 1305445 Ltf lactotransferrin gene DOID:2272 vulvovaginal candidiasis ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:289 endometriosis ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1305445 Ltf lactotransferrin gene DOID:381 arthropathy ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313477 D RGD:7243860|PMID:21532506 20130517 RGD 1305445 Ltf lactotransferrin gene DOID:4450 renal cell carcinoma ISO RGD:1313477 D RGD:7243106|PMID:23201854 20130502 RGD 1305445 Ltf lactotransferrin gene DOID:630 genetic disease ISO RGD:1313477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305445 Ltf lactotransferrin gene DOID:65 connective tissue disease ISO RGD:1313477 D RGD:7243945|PMID:8296641 20130521 RGD 1305445 Ltf lactotransferrin gene DOID:8577 ulcerative colitis ISO RGD:1313477 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16640825|PMID:35999755 1305445 Ltf lactotransferrin gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:9000310 Lung Injury ISO RGD:1313477 D RGD:7243109|PMID:16905637 20130502 RGD 1305445 Ltf lactotransferrin gene DOID:9001600 Wounds and Injuries ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:9001981 Weight Loss ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24587916 1305445 Ltf lactotransferrin gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1305445 Ltf lactotransferrin gene DOID:9002928 Colonic Neoplasms ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12079509 1305445 Ltf lactotransferrin gene DOID:9003507 Premature Birth ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16640825 1305445 Ltf lactotransferrin gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1313477 D RGD:7243106|PMID:23201854 20130502 RGD 1305445 Ltf lactotransferrin gene DOID:9004484 Sepsis ISO RGD:1313477 D RGD:7243861|PMID:23425819 20130517 RGD 1305445 Ltf lactotransferrin gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16141546 1305445 Ltf lactotransferrin gene DOID:9005372 Inflammation ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16141546 1305445 Ltf lactotransferrin gene DOID:9006024 Hypotension ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563657 1305445 Ltf lactotransferrin gene DOID:9007188 Liver Neoplasms ISO RGD:1313477 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:12079509 1305445 Ltf lactotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16141546 1305445 Ltf lactotransferrin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1313477 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 1305445 Ltf lactotransferrin gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:21079169|REF_RGD_ID:11554025 1305445 Ltf lactotransferrin gene DOID:9008885 Staphylococcal Infections ISO RGD:1313477 D RGD:7243953|PMID:10030017 20130521 RGD 1305445 Ltf lactotransferrin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1313477 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15651117 1305446 Trrap transformation/transcription domain-associated protein gene DOID:0111455 GRACILE syndrome ISO RGD:1313479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:25741868 1305446 Trrap transformation/transcription domain-associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:7240710 20200226 OMIM 1305446 Trrap transformation/transcription domain-associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 75 PMID:25741868|PMID:28492532|PMID:31231791 1305446 Trrap transformation/transcription domain-associated protein gene DOID:10283 prostate cancer ISO RGD:1313479 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305446 Trrap transformation/transcription domain-associated protein gene DOID:12849 autistic disorder ISO RGD:1313479 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 1305446 Trrap transformation/transcription domain-associated protein gene DOID:1909 melanoma ISO RGD:1313479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1305446 Trrap transformation/transcription domain-associated protein gene DOID:3307 teratoma ISO RGD:1313479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1305446 Trrap transformation/transcription domain-associated protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313479 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305446 Trrap transformation/transcription domain-associated protein gene DOID:5419 schizophrenia ISO RGD:1313479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 1305446 Trrap transformation/transcription domain-associated protein gene DOID:630 genetic disease ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30827496 1305446 Trrap transformation/transcription domain-associated protein gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1313479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:25741868 1305446 Trrap transformation/transcription domain-associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313479 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305446 Trrap transformation/transcription domain-associated protein gene DOID:9008086 Developmental Disabilities ISO RGD:1313479 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741898 1305446 Trrap transformation/transcription domain-associated protein gene DOID:9008582 Developmental Disease ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1305446 Trrap transformation/transcription domain-associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:7240710 20190911 OMIM 1305446 Trrap transformation/transcription domain-associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496 1305447 Sptlc2 serine palmitoyltransferase, long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:7240710 20130221 OMIM 1305447 Sptlc2 serine palmitoyltransferase, long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:17081983|PMID:17576681|PMID:19564159|PMID:20920666|PMID:23658386|PMID:24175284|PMID:25567748|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26573920|PMID:26681808|PMID:27066551|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29042446|PMID:29184351|PMID:30373780|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:31692161|PMID:32730653|PMID:9536098 1305447 Sptlc2 serine palmitoyltransferase, long chain base subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1354205 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305447 Sptlc2 serine palmitoyltransferase, long chain base subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354205 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17081983|PMID:25567748|PMID:25741868|PMID:26681808|PMID:28492532|PMID:28902413|PMID:29184351|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:32730653 1305447 Sptlc2 serine palmitoyltransferase, long chain base subunit 2 gene DOID:630 genetic disease ISO RGD:1354205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19564159|PMID:25741868|PMID:26392352|PMID:26573920|PMID:28166811|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31692161|PMID:9536098 1305447 Sptlc2 serine palmitoyltransferase, long chain base subunit 2 gene DOID:8893 psoriasis ISS RGD:1614415 D RGD:13592920 20180518 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 1305448 Trim11 tripartite motif-containing 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1313482 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305448 Trim11 tripartite motif-containing 11 gene DOID:630 genetic disease ISO RGD:1313482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305448 Trim11 tripartite motif-containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313482 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305451 Bhlhe22 basic helix-loop-helix family, member e22 gene DOID:630 genetic disease ISO RGD:1313486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305452 Cct8 chaperonin containing TCP1 subunit 8 gene DOID:0080600 COVID-19 ISO RGD:1313488 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305452 Cct8 chaperonin containing TCP1 subunit 8 gene DOID:630 genetic disease ISO RGD:1313488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305453 Mtfr1l mitochondrial fission regulator 1-like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606533 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1305453 Mtfr1l mitochondrial fission regulator 1-like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1305453 Mtfr1l mitochondrial fission regulator 1-like gene DOID:630 genetic disease ISO RGD:1606533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305454 Psmg1 proteasome assembly chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1313491 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305454 Psmg1 proteasome assembly chaperone 1 gene DOID:630 genetic disease ISO RGD:1313491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305454 Psmg1 proteasome assembly chaperone 1 gene DOID:8577 ulcerative colitis ISO RGD:1313491 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 1305455 Trappc14 trafficking protein particle complex subunit 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605367 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305455 Trappc14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:7240710 20190315 OMIM 1305455 Trappc14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive PMID:25741868|PMID:30715179 1305456 Tfcp2l1 transcription factor CP2-like 1 gene DOID:630 genetic disease ISO RGD:1313494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305456 Tfcp2l1 transcription factor CP2-like 1 gene DOID:784 chronic kidney disease ISO RGD:1313494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:33097957 1305457 Ikbip IKBKB interacting protein gene DOID:630 genetic disease ISO RGD:1605589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343515 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1343515 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Geleophysic dwarfism PMID:24014090 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0111724 geleophysic dysplasia ISO RGD:1343515 D RGD:8554872 20190402 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:7240710 20130221 OMIM 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 1 PMID:18677313|PMID:20301776|PMID:21415077|PMID:24014090|PMID:25741868|PMID:28492532|PMID:30174453|PMID:30195254 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343515 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:3652 Leigh disease ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:4079 heart valve disease ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:630 genetic disease ISO RGD:1343515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:655 inherited metabolic disorder ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9001487 Facies ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9003299 Short Limb Dwarfism Al Gazali Type ISO RGD:1343515 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type PMID:18677313|PMID:20301776|PMID:24251637|PMID:25741868|PMID:30195254 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:12117271 D RGD:9068941 20220630 OMIA Geleophysic dysplasia, ADMATSL2-related PMID:20862248|PMID:28158899 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9005369 Hepatomegaly ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9006257 Growth Disorders ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305459 Adamtsl2 ADAMTS-like 2 gene DOID:9006836 Contracture ISO RGD:1343515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:0050777 Joubert syndrome ISO RGD:1313498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313498 D RGD:1599171|PMID:12021784 20070118 RGD 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:11372 megacolon ISO RGD:1313498 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:1612 breast cancer ISO RGD:1313498 D RGD:7240710 20180711 OMIM 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:2394 ovarian cancer ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:3070 high grade glioma ISO RGD:1313498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:630 genetic disease ISO RGD:1313498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27479843|PMID:28135719|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9002777 Brain Stem Neoplasms ISO RGD:1313498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313498 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:7240710 20190315 OMIM 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:29758562|PMID:30216591|PMID:30388424|PMID:30795918|PMID:31916397 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313498 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9008939 Breast Neoplasms ISO RGD:1313498 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 1305460 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:1313500 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:0060412 chromosome 1q41-q42 deletion syndrome ISS RGD:1313501 D RGD:13592920 20180809 MouseDO OMIM:612530 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313500 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:630 genetic disease ISO RGD:1313500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313500 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313500 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 1305461 Tp53bp2 tumor protein p53 binding protein, 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313500 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1313502 D RGD:14975251|PMID:22922605 20191003 RGD protein:increased activity:plasma 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1313503 D RGD:14975250|PMID:18710424 20191003 RGD protein:increased expression:liver,serum 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1313502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:1059 intellectual disability ISO RGD:1313502 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28492532 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:3571 liver cancer treatment ISO RGD:1313502 D RGD:14975251|PMID:22922605 20191003 RGD 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:630 genetic disease ISO RGD:1313502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29882329|PMID:32214227 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:7240710 20170510 OMIM 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1313502 D RGD:14975251|PMID:22922605 20191003 RGD protein:increased activity:plasma 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313502 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:14975249|PMID:19085960 20191003 RGD protein:increased expression, activity:serum: 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313503 D RGD:14975249|PMID:19085960 20191003 RGD protein:increased expression, activity:serum: 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:11342811|PMID:25865565 20191003 RGD protein:increased expression, activity:liver: 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9452 fatty liver disease ISO RGD:1313503 D RGD:14975241|PMID:15122758 20191002 RGD mRNA:increased expression:liver 1305462 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9970 obesity ISO RGD:1313503 D RGD:11342811|PMID:25865565 20191003 RGD protein:increased expression, activity:liver: 1305463 Map4k1 mitogen activated protein kinase kinase kinase kinase 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7495845|PMID:18498770 20131217 RGD 1305463 Map4k1 mitogen activated protein kinase kinase kinase kinase 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7495847|PMID:18382279 20131217 RGD 1305463 Map4k1 mitogen activated protein kinase kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1313504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305464 C8h15orf39 similar to human chromosome 15 open reading frame 39 gene DOID:2717 Bloom syndrome ISO RGD:1604333 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305464 C8h15orf39 similar to human chromosome 15 open reading frame 39 gene DOID:5419 schizophrenia ISO RGD:1604333 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305464 C8h15orf39 similar to human chromosome 15 open reading frame 39 gene DOID:630 genetic disease ISO RGD:1604333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305464 C8h15orf39 similar to human chromosome 15 open reading frame 39 gene DOID:9256 colorectal cancer ISO RGD:1604333 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305465 Fbxo10 F-box protein 10 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305465 Fbxo10 F-box protein 10 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305465 Fbxo10 F-box protein 10 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305465 Fbxo10 F-box protein 10 gene DOID:630 genetic disease ISO RGD:1313507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305465 Fbxo10 F-box protein 10 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1601189|PMID:17404222 20090216 RGD 1305465 Fbxo10 F-box protein 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305465 Fbxo10 F-box protein 10 gene DOID:9870 galactosemia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305466 Lonp2 lon peptidase 2, peroxisomal gene DOID:10283 prostate cancer ISO RGD:1605609 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305466 Lonp2 lon peptidase 2, peroxisomal gene DOID:630 genetic disease ISO RGD:1605609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305466 Lonp2 lon peptidase 2, peroxisomal gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605609 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 1305466 Lonp2 lon peptidase 2, peroxisomal gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1605609 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 1305466 Lonp2 lon peptidase 2, peroxisomal gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1605609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:0060673 Peters anomaly ISO RGD:1313510 D RGD:8554872 20170221 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1313510 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:7240710 20130425 OMIM 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:17576681|PMID:18695108|PMID:20232351|PMID:21378395|PMID:22039234|PMID:23484092|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28515276|PMID:29087248|PMID:30360737|PMID:31725702|PMID:32424050|PMID:33576794|PMID:9536098 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:1599210|PMID:11468273 20070119 RGD 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8547535|PMID:23701314 20140217 RGD 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:630 genetic disease ISO RGD:1313510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:8501 fundus dystrophy ISO RGD:1313510 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:27208204|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313510 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:9007096 Stroke ISO RGD:1313510 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1305467 Prpf8 pre-mRNA processing factor 8 gene DOID:9008582 Developmental Disease ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:7240710 20130221 OMIM 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H PMID:12480927|PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:23806237|PMID:25428507|PMID:25741868|PMID:26066342|PMID:26653770|PMID:28106320|PMID:28375157|PMID:28492532|PMID:28940310|PMID:9536098 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1313512 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:7240710 20190315 OMIM 1305468 Alg8 ALG8, alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 1305469 Prr14l proline rich 14-like gene DOID:630 genetic disease ISO RGD:1604500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305470 Rnf19b ring finger protein 19B gene DOID:0080600 COVID-19 ISO RGD:1313515 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305470 Rnf19b ring finger protein 19B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313515 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305470 Rnf19b ring finger protein 19B gene DOID:630 genetic disease ISO RGD:1313515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305471 Atf6 activating transcription factor 6 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1313517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:7240710 20170215 OMIM 1305471 Atf6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia 7 PMID:24824130|PMID:25741868|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28028229|PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:10320 asbestosis ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 1305471 Atf6 activating transcription factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 1305471 Atf6 activating transcription factor 6 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1305471 Atf6 activating transcription factor 6 gene DOID:13399 color blindness ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 1305471 Atf6 activating transcription factor 6 gene DOID:13911 achromatopsia ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28041643|PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1313517 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:4448 macular degeneration ISO RGD:1313517 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 1305471 Atf6 activating transcription factor 6 gene DOID:5154 borna disease IEP D RGD:32733622|PMID:16912310 20200701 RGD protein:increased expression:cerebellum, hippocampus 1305471 Atf6 activating transcription factor 6 gene DOID:5434 scrapie ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1305471 Atf6 activating transcription factor 6 gene DOID:630 genetic disease ISO RGD:1313517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:9003137 Photophobia ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 1305471 Atf6 activating transcription factor 6 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1313518 D RGD:156430337|PMID:36044268 20230228 RGD 1305471 Atf6 activating transcription factor 6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD mRNA,protein:increased expression:chondrocyte 1305471 Atf6 activating transcription factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313517 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305471 Atf6 activating transcription factor 6 gene DOID:9649 congenital nystagmus ISO RGD:1313517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 1305473 Spag7 sperm associated antigen 7 gene DOID:0050941 spastic ataxia 2 ISO RGD:1313520 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 1305473 Spag7 sperm associated antigen 7 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1313520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 1305473 Spag7 sperm associated antigen 7 gene DOID:630 genetic disease ISO RGD:1313520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305474 L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:0050902 medulloblastoma ISO RGD:1313522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1305474 L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:630 genetic disease ISO RGD:1313522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305474 L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313522 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1305475 Thoc7 THO complex subunit 7 gene DOID:630 genetic disease ISO RGD:1602206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305476 Mki67 marker of proliferation Ki-67 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1313525 D RGD:6483541|PMID:20919850 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:0050868 hepatocellular adenoma ISO RGD:1313525 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:31939706 1305476 Mki67 marker of proliferation Ki-67 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313525 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1305476 Mki67 marker of proliferation Ki-67 gene DOID:0080178 mucositis IEP D RGD:5509078|PMID:21846355 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:0080600 COVID-19 ISO RGD:1313525 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305476 Mki67 marker of proliferation Ki-67 gene DOID:0081267 graft-versus-host disease ISO RGD:1313525 D RGD:6483534|PMID:21440078 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:10286 prostate carcinoma IDA D RGD:6483545|PMID:22268182 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:10534 stomach cancer treatment ISO RGD:1313525 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 1305476 Mki67 marker of proliferation Ki-67 gene DOID:11054 urinary bladder cancer IEP D RGD:2317708|PMID:20367636 20100419 RGD protein:increased expression:urinary bladder 1305476 Mki67 marker of proliferation Ki-67 gene DOID:1227 neutropenia ISO RGD:1313525 D RGD:6483522|PMID:22092365 20120523 RGD protein:increased expression:blood, T cell 1305476 Mki67 marker of proliferation Ki-67 gene DOID:12365 malaria ISO RGD:1313526 D RGD:6483517|PMID:21931708 20120523 RGD associated with Lung Neoplasms 1305476 Mki67 marker of proliferation Ki-67 gene DOID:127 leiomyoma IDA D RGD:6483544|PMID:22302692 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:1324 lung cancer ameliorates ISO RGD:1313525 D RGD:153344580|PMID:29183007 20220829 RGD human cells in mouse model 1305476 Mki67 marker of proliferation Ki-67 gene DOID:13949 interstitial cystitis ISO RGD:1313525 D RGD:6483539|PMID:21166752 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:1612 breast cancer ISO RGD:1313525 D RGD:6483528|PMID:21880954 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:1612 breast cancer disease_progression ISO RGD:1313525 D RGD:6483516|PMID:22004841 20120523 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer ISO RGD:1313525 D RGD:2317704|PMID:20137856 20100416 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1313525 D RGD:2317703|PMID:20350215 20100416 RGD protein:increased expression:pancreas 1305476 Mki67 marker of proliferation Ki-67 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:2843 long QT syndrome ISO RGD:1313525 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305476 Mki67 marker of proliferation Ki-67 gene DOID:299 adenocarcinoma ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 1305476 Mki67 marker of proliferation Ki-67 gene DOID:3042 allergic contact dermatitis ISO RGD:1313526 D RGD:6483538|PMID:21294775 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:3070 high grade glioma IDA D RGD:6483547|PMID:22262719 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1313525 D RGD:153344584|PMID:31205511 20220829 RGD human cells in mouse model 1305476 Mki67 marker of proliferation Ki-67 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1313525 D RGD:152999419|PMID:26942465 20220719 RGD protein:altered expression:lung (human) 1305476 Mki67 marker of proliferation Ki-67 gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 1305476 Mki67 marker of proliferation Ki-67 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313525 D RGD:2317705|PMID:12903495 20100416 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:5031 adult pineal parenchymal tumor severity ISO RGD:1313525 D RGD:6483520|PMID:21696422 20120523 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313525 D RGD:6483531|PMID:21576701 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:557 kidney disease IEP D RGD:6483553|PMID:22017545 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:574 peripheral nervous system disease ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1305476 Mki67 marker of proliferation Ki-67 gene DOID:630 genetic disease ISO RGD:1313525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305476 Mki67 marker of proliferation Ki-67 gene DOID:684 hepatocellular carcinoma ISO RGD:1313525 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305476 Mki67 marker of proliferation Ki-67 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1313525 D RGD:153344539|PMID:31541079 20220824 RGD human cells in mouse model 1305476 Mki67 marker of proliferation Ki-67 gene DOID:8719 in situ carcinoma ISO RGD:1313525 D RGD:2317703|PMID:20350215 20100416 RGD associated with Pancreatic Neoplasms;protein:increased expression:pancreas 1305476 Mki67 marker of proliferation Ki-67 gene DOID:8778 Crohn's disease ISO RGD:1313525 D RGD:6483536|PMID:21364546 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 1305476 Mki67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:6483515|PMID:22499302 20120523 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9000918 Disease Progression ISO RGD:1313525 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313525 D RGD:2317702|PMID:20388395 20100416 RGD associated with Pancreatic Neoplasms 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313526 D RGD:6483523|PMID:22070864 20120523 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1313525 D RGD:2317706|PMID:9869516 20100416 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9005372 Inflammation ISO RGD:1313525 D RGD:6483533|PMID:21536322 20120524 RGD associated with Common Variable Immunodeficiency 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9007533 Hantavirus Infections ISO RGD:1313525 D RGD:6483519|PMID:21795350 20120523 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:6483543|PMID:22405128 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12645814 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9008510 Chronic Hepatitis ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9008939 Breast Neoplasms ISO RGD:1313525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15706428|PMID:18768436|PMID:19436038 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313525 D RGD:6483529|PMID:21693493 20120524 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9206 Barrett's esophagus severity ISO RGD:1313525 D RGD:6483521|PMID:22147251 20120523 RGD 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1313525 D RGD:153344629|PMID:34974791 20220906 RGD human cells in mouse model 1305476 Mki67 marker of proliferation Ki-67 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2317709|PMID:20045412 20100419 RGD protein:increased expression:hippocampus 1305478 Elp6 elongator acetyltransferase complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305478 Elp6 elongator acetyltransferase complex subunit 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1305480 Snx7 sorting nexin 7 gene DOID:630 genetic disease ISO RGD:1313530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305480 Snx7 sorting nexin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305481 Sfr1 SWI5-dependent homologous recombination repair protein 1 gene DOID:630 genetic disease ISO RGD:1313532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305482 Lrrn2 leucine rich repeat neuronal 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1305482 Lrrn2 leucine rich repeat neuronal 2 gene DOID:12849 autistic disorder ISO RGD:1313534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305482 Lrrn2 leucine rich repeat neuronal 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313534 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305482 Lrrn2 leucine rich repeat neuronal 2 gene DOID:630 genetic disease ISO RGD:1313534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305482 Lrrn2 leucine rich repeat neuronal 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1305482 Lrrn2 leucine rich repeat neuronal 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313534 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32773772|PMID:33120919|PMID:33471991|PMID:35089076|PMID:35535697|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35402282|PMID:35535697|PMID:36073783|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29946849|PMID:30013564|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32571878|PMID:32634176|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35535697|PMID:36073783|PMID:36647049|PMID:36988593|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:7240710 20141015 OMIM 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16199547|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22608206|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26811195|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29478780|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31589614|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31857677|PMID:31874108|PMID:31883735|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32283892|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33359728|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:36647049|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 PMID:22949387|PMID:25980754|PMID:26467025|PMID:27863258|PMID:28492532|PMID:33471991 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10763829|PMID:15077197 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:10283 prostate cancer disease_progression ISO RGD:1313536 D RGD:2315026|PMID:19124481 20091214 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:10534 stomach cancer ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12714694|PMID:15077197|PMID:15845562|PMID:16199547|PMID:16426742|PMID:18602922|PMID:19495563|PMID:1992580|PMID:20205264|PMID:20487569|PMID:21261604|PMID:21376568|PMID:22918162|PMID:23012243|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25430799|PMID:25477341|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:26110232|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26895986|PMID:26898890|PMID:27273229|PMID:27476653|PMID:27589204|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28640387|PMID:28724667|PMID:28975465|PMID:29625052|PMID:29667044|PMID:30256826|PMID:30376427|PMID:30521064|PMID:31056861|PMID:31101557|PMID:31992580|PMID:32012241|PMID:32885271|PMID:34178123|PMID:34285288|PMID:36647049|PMID:36988593|PMID:7632227|PMID:7661930|PMID:9488480 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1313536 D RGD:2315025|PMID:19692168 20091214 RGD DNA:SNP: :rs6463524 (human) 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1520 colon carcinoma ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:29300386|PMID:29478780|PMID:30103829|PMID:30374176|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:2293505|PMID:17394628 20091214 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:9536098 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:36988593|PMID:9536098 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:219 colon cancer ISO RGD:1313536 D RGD:8554872 20201215 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24072394|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26798439|PMID:26845104|PMID:26900293|PMID:27028851|PMID:27356891|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28874130|PMID:29570743|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:31830689|PMID:31921681|PMID:32068069|PMID:32566746|PMID:32661327|PMID:32832836|PMID:32914570|PMID:32980694|PMID:33413596|PMID:33471991|PMID:34350294|PMID:36200007 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313536 D RGD:2315028|PMID:18723338 20091214 RGD DNA:SNP: :rs2228006 (human) 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:2871 endometrial carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10479499|PMID:10480359|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15872200|PMID:16144131|PMID:16199547|PMID:16472587|PMID:16619239|PMID:17139668|PMID:17557300|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22703879|PMID:22875147|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23435383|PMID:23709753|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24130102|PMID:24326041|PMID:24362816|PMID:24434690|PMID:24440087|PMID:24556621|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25503501|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26921362|PMID:27001570|PMID:27050224|PMID:27203213|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27476653|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:28873162|PMID:28975465|PMID:29333623|PMID:29345684|PMID:29570743|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:30013564|PMID:30322717|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:31159747|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32719484|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34371384|PMID:35535697|PMID:7628019|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3247 rhabdomyosarcoma ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19293170 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3247 rhabdomyosarcoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10037723|PMID:15077197|PMID:16507833|PMID:18602922|PMID:18824584|PMID:19092773|PMID:20205264|PMID:20581245|PMID:21356188|PMID:21618646|PMID:23012243|PMID:2440087|PMID:25512458|PMID:25525159|PMID:26110232|PMID:26895986|PMID:27435373|PMID:28492532|PMID:28805995|PMID:31433215|PMID:32773772|PMID:34048176|PMID:7629132 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3459 breast carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14756672|PMID:15887124|PMID:25701956 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:1599137|PMID:8072530 20070117 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:1599142|PMID:16472587 20070117 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:20961292|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:36647049|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:4916 pituitary carcinoma ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary carcinoma PMID:15256438|PMID:16144131|PMID:16619239|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19156169|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24897087|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25637381|PMID:25741868|PMID:25871621|PMID:26116798|PMID:26318770|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27433846|PMID:27435373|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:29875428|PMID:30013564|PMID:30612635|PMID:30702970|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32719484|PMID:33258288|PMID:33504652|PMID:35535697|PMID:7628019 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:7628019|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:684 hepatocellular carcinoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9001492 Lowry Maclean syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lowry-MacLean syndrome | ClinVar Annotator: match by term: Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure PMID:22949387|PMID:23499907|PMID:25186627|PMID:25741868|PMID:26320870|PMID:26423401|PMID:28492532|PMID:28767177 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313536 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:16144131|PMID:16283678|PMID:18602922|PMID:19283792|PMID:20205264|PMID:21239990|PMID:21376568|PMID:22658618|PMID:23012243|PMID:24033266|PMID:24362816|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26895986|PMID:28492532|PMID:29489754|PMID:6144131 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:25318351|PMID:25741868|PMID:28492532|PMID:31386297 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10480359|PMID:15256438|PMID:16472587|PMID:19132747|PMID:19526325|PMID:20205264|PMID:22703879|PMID:23709753|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002928 Colonic Neoplasms ISO RGD:1313536 D RGD:1599141|PMID:10763829 20070117 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:7240710 20201202 OMIM 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 PMID:10037723|PMID:10763829|PMID:12208142|PMID:12714694|PMID:14574005|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15845562|PMID:16144131|PMID:16199547|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16619239|PMID:17557300|PMID:17576681|PMID:18030674|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19293170|PMID:19495563|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:20587412|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22577899|PMID:22608206|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24763289|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26845104|PMID:26895986|PMID:27064304|PMID:27082517|PMID:27376475|PMID:27433846|PMID:27435373|PMID:27498913|PMID:27696107|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528518|PMID:28596308|PMID:28805995|PMID:28873162|PMID:29478780|PMID:29752822|PMID:29875428|PMID:30013564|PMID:30103829|PMID:30306255|PMID:30521064|PMID:30612635|PMID:30702970|PMID:30833958|PMID:31159747|PMID:31269945|PMID:31336956|PMID:31386297|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31650731|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32571878|PMID:32634176|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34048176|PMID:35535697|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:8993976|PMID:9488480|PMID:9536098 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BRAIN TUMOR-POLYPOSIS SYNDROME 1 | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29570743|PMID:29625052|PMID:29785153|PMID:29875428|PMID:29967336|PMID:30013564|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31857677|PMID:31883735|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:16199547|PMID:18602922|PMID:19132747|PMID:19479271|PMID:21376568|PMID:24027009|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26689913|PMID:27435373|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9006537 Supratentorial Neoplasms ISO RGD:1313536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29570743 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34271781|PMID:34284872|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35402282|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007502 Brain Neoplasms ISO RGD:1313536 D RGD:1599141|PMID:10763829 20070117 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313536 D RGD:2306714|PMID:11900875 20090504 RGD 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9008939 Breast Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23709753|PMID:24033266|PMID:25741868|PMID:27146957|PMID:28466842|PMID:28492532 1305483 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 1305484 Dpep3 dipeptidase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1313538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1305484 Dpep3 dipeptidase 3 gene DOID:630 genetic disease ISO RGD:1313538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305486 Fam98a family with sequence similarity 98, member A gene DOID:630 genetic disease ISO RGD:1603675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:0050567 orofacial cleft ISO RGD:1313544 D RGD:13831307|PMID:28543373 20181221 RGD DNA:missense mutation: :p.V496A (rs59088485) (human) 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:0050567 orofacial cleft ISO RGD:1313544 D RGD:13831309|PMID:27229527 20181221 RGD DNA:missense mutation: :p.V496A (rs59088485) (human) 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:11981 morbid obesity treatment ISO RGD:1313544 D RGD:13831306|PMID:22384010 20181221 RGD 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:2843 long QT syndrome ISO RGD:1313544 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1313544 D RGD:152995523|PMID:29885404 20220628 RGD protein:increased expression:lung (human) 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:630 genetic disease ISO RGD:1313544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1313544 D RGD:13831304|PMID:27539851 20181221 RGD 1305489 Acss2 acyl-CoA synthetase short-chain family member 2 gene DOID:9005372 Inflammation ISO RGD:1313544 D RGD:13831308|PMID:25533197 20181221 RGD associated with nonalcoholic fatty liver disease 1305490 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1350261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1305490 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:630 genetic disease ISO RGD:1350261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305490 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9007661 Dwarfism ISO RGD:1350261 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1305490 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1350261 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 1305490 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350261 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 1305491 Rnf2 ring finger protein 2 gene DOID:0080016 spina bifida IEP D RGD:9491842|PMID:20515739 20140916 RGD 1305491 Rnf2 ring finger protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313548 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305491 Rnf2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313549|RGD:1313548 D RGD:9491843|PMID:19585519 20140916 RGD protein:increased expression:pancreas 1305491 Rnf2 ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1313548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305491 Rnf2 ring finger protein 2 gene DOID:9000444 LUO-SCHOCH-YAMAMOTO SYNDROME ISO RGD:1313548 D RGD:7240710 20211027 OMIM 1305491 Rnf2 ring finger protein 2 gene DOID:9000444 LUO-SCHOCH-YAMAMOTO SYNDROME ISO RGD:1313548 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition PMID:25741868|PMID:33864376 1305491 Rnf2 ring finger protein 2 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:9491844|PMID:20740046 20140916 RGD 1305491 Rnf2 ring finger protein 2 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1313548 D RGD:9491843|PMID:19585519 20140916 RGD protein:increased expression:pancreas 1305491 Rnf2 ring finger protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313548 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305492 Gpbp1 GC-rich promoter binding protein 1 gene DOID:630 genetic disease ISO RGD:1607008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305492 Gpbp1 GC-rich promoter binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607008 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305493 Sema6a semaphorin 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305493 Sema6a semaphorin 6A gene DOID:12849 autistic disorder ISO RGD:1313551 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305493 Sema6a semaphorin 6A gene DOID:630 genetic disease ISO RGD:1313551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305493 Sema6a semaphorin 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313551 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305493 Sema6a semaphorin 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305494 Gtf2h3 general transcription factor IIH subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1313552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1305494 Gtf2h3 general transcription factor IIH subunit 3 gene DOID:630 genetic disease ISO RGD:1313552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305495 Plxnb2 plexin B2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1305495 Plxnb2 plexin B2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1305495 Plxnb2 plexin B2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313554 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1305495 Plxnb2 plexin B2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313554 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1305495 Plxnb2 plexin B2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1305495 Plxnb2 plexin B2 gene DOID:1059 intellectual disability ISO RGD:1313554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305495 Plxnb2 plexin B2 gene DOID:630 genetic disease ISO RGD:1313554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305496 Msc musculin gene DOID:0080600 COVID-19 ISO RGD:1313556 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305496 Msc musculin gene DOID:630 genetic disease ISO RGD:1313556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305498 Cotl1 coactosin-like F-actin binding protein 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313560 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1305498 Cotl1 coactosin-like F-actin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1313560 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305498 Cotl1 coactosin-like F-actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1313560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305498 Cotl1 coactosin-like F-actin binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305498 Cotl1 coactosin-like F-actin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 1305499 Calml3 calmodulin-like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313562 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305499 Calml3 calmodulin-like 3 gene DOID:5419 schizophrenia ISO RGD:1313562 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305499 Calml3 calmodulin-like 3 gene DOID:630 genetic disease ISO RGD:1313562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305499 Calml3 calmodulin-like 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313562 D RGD:9068941 20220318 RGD protein:decreased expression:liver (human) PMID:29445139|REF_RGD_ID:151665319 1305499 Calml3 calmodulin-like 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313562 D RGD:9068941 20220318 RGD associated with hepatocellular carcinoma; protein:decreased expression:liver (human) PMID:29445139|REF_RGD_ID:151665319 1305499 Calml3 calmodulin-like 3 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1313562 D RGD:151665319|PMID:29445139 20220318 RGD associated with hepatocellular carcinoma; human cells in mouse model 1305499 Calml3 calmodulin-like 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1313562 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1305500 Fam204a family with sequence similarity 204, member A gene DOID:630 genetic disease ISO RGD:1313564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:0050692 Brody myopathy ISO RGD:1313566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:17576681|PMID:28492532|PMID:9536098 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1313566 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:7240710 20130221 OMIM 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 PMID:17160893|PMID:19524667|PMID:20435138|PMID:25741868|PMID:26741492|PMID:28492532 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313566 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1313566 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:9000117 Esophageal Neoplasms ISO RGD:1313566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 1305501 Tufm Tu translation elongation factor, mitochondrial gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1305502 Xrra1 X-ray radiation resistance associated 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1305502 Xrra1 X-ray radiation resistance associated 1 gene DOID:1059 intellectual disability ISO RGD:1313568 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305502 Xrra1 X-ray radiation resistance associated 1 gene DOID:630 genetic disease ISO RGD:1313568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305504 Adck5 aarF domain containing kinase 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1305504 Adck5 aarF domain containing kinase 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1305504 Adck5 aarF domain containing kinase 5 gene DOID:4621 holoprosencephaly ISO RGD:1313570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1305504 Adck5 aarF domain containing kinase 5 gene DOID:630 genetic disease ISO RGD:1313570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305506 Ubtd2 ubiquitin domain containing 2 gene DOID:630 genetic disease ISO RGD:1601834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305508 Dhrs13 dehydrogenase/reductase 13 gene DOID:630 genetic disease ISO RGD:1603266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305510 Senp7 SUMO specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1313579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305511 Ppl periplakin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1313581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1305511 Ppl periplakin gene DOID:630 genetic disease ISO RGD:1313581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305511 Ppl periplakin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313581 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1305512 Fam3d FAM3 metabolism regulating signaling molecule D gene DOID:5419 schizophrenia ISO RGD:1313583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1305512 Fam3d FAM3 metabolism regulating signaling molecule D gene DOID:630 genetic disease ISO RGD:1313583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305513 Rnf31 ring finger protein 31 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1305513 Rnf31 ring finger protein 31 gene DOID:630 genetic disease ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305513 Rnf31 ring finger protein 31 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1305513 Rnf31 ring finger protein 31 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348836 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1305513 Rnf31 ring finger protein 31 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1305513 Rnf31 ring finger protein 31 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 1305513 Rnf31 ring finger protein 31 gene DOID:9007661 Dwarfism ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 1305514 Patl1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1305514 Patl1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:1059 intellectual disability ISO RGD:1606423 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305514 Patl1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305515 Rgs17 regulator of G-protein signaling 17 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1313587 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 1305515 Rgs17 regulator of G-protein signaling 17 gene DOID:630 genetic disease ISO RGD:1313587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305515 Rgs17 regulator of G-protein signaling 17 gene DOID:670 amphetamine abuse ISO RGD:1313587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1305516 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1313589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1305516 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:1059 intellectual disability ISO RGD:1313589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305516 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:630 genetic disease ISO RGD:1313589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305516 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17982127 1305520 Aak1 AP2 associated kinase 1 gene DOID:0050591 tooth agenesis ISO RGD:1313595 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Tooth agenesis 1305520 Aak1 AP2 associated kinase 1 gene DOID:630 genetic disease ISO RGD:1313595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305521 Gnpda2 glucosamine-6-phosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1313596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305521 Gnpda2 glucosamine-6-phosphate deaminase 2 gene DOID:9007633 Body Weight ISO RGD:1313596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 1305521 Gnpda2 glucosamine-6-phosphate deaminase 2 gene DOID:9970 obesity ISO RGD:1313596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 1305522 B9d1 B9 domain containing 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602004 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 1305522 B9d1 B9 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 1305522 B9d1 B9 domain containing 1 gene DOID:0050778 Meckel syndrome ISO RGD:1602004 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 1305522 B9d1 B9 domain containing 1 gene DOID:0050778 Meckel syndrome ISS RGD:1313598 D RGD:13592920 20180518 MouseDO 1305522 B9d1 B9 domain containing 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602004 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1305522 B9d1 B9 domain containing 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1305522 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 1305522 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24886560|PMID:26092869 1305522 B9d1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:7240710 20190315 OMIM 1305522 B9d1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 27 PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 1305522 B9d1 B9 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602004 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305522 B9d1 B9 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602004 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305522 B9d1 B9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305522 B9d1 B9 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305522 B9d1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:7240710 20140911 OMIM 1305522 B9d1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627|PMID:25741868|PMID:28492532 1305522 B9d1 B9 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602004 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1305523 Fbxl14 F-box and leucine-rich repeat protein 14 gene DOID:630 genetic disease ISO RGD:1313599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305523 Fbxl14 F-box and leucine-rich repeat protein 14 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313599 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1305524 Nt5dc2 5'-nucleotidase domain containing 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1305524 Nt5dc2 5'-nucleotidase domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1601740 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305524 Nt5dc2 5'-nucleotidase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:1540 parathyroid carcinoma ISO RGD:1605692 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:5812 MHC class II deficiency ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:630 genetic disease ISO RGD:1605692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:8584 Burkitt lymphoma ISO RGD:1605692 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:31587870 1305525 Mllt11 MLLT11, transcription factor 7 cofactor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605692 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305526 Fam172a family with sequence similarity 172, member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305526 Fam172a family with sequence similarity 172, member A gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1605018 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 1305526 Fam172a family with sequence similarity 172, member A gene DOID:630 genetic disease ISO RGD:1605018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305526 Fam172a family with sequence similarity 172, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605018 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305526 Fam172a family with sequence similarity 172, member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305527 Ankrd35 ankyrin repeat domain 35 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1352290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1305527 Ankrd35 ankyrin repeat domain 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1352290 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305527 Ankrd35 ankyrin repeat domain 35 gene DOID:5419 schizophrenia ISO RGD:1352290 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305527 Ankrd35 ankyrin repeat domain 35 gene DOID:630 genetic disease ISO RGD:1352290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305527 Ankrd35 ankyrin repeat domain 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352290 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305528 Fbxl12 F-box and leucine-rich repeat protein 12 gene DOID:12849 autistic disorder ISO RGD:1313605 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305528 Fbxl12 F-box and leucine-rich repeat protein 12 gene DOID:630 genetic disease ISO RGD:1313605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305529 Pcnx3 pecanex 3 gene DOID:1059 intellectual disability ISO RGD:1602160 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305529 Pcnx3 pecanex 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305529 Pcnx3 pecanex 3 gene DOID:2746 glycogen storage disease V ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305529 Pcnx3 pecanex 3 gene DOID:3070 high grade glioma ISO RGD:1602160 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1305529 Pcnx3 pecanex 3 gene DOID:630 genetic disease ISO RGD:1602160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305529 Pcnx3 pecanex 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1305529 Pcnx3 pecanex 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1305529 Pcnx3 pecanex 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1602160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 1305530 Ccl25 C-C motif chemokine ligand 25 gene DOID:0080490 mucolipidosis type IV ISO RGD:1313608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1305530 Ccl25 C-C motif chemokine ligand 25 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1313608 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1305530 Ccl25 C-C motif chemokine ligand 25 gene DOID:10247 pleurisy ISO RGD:1313609 D RGD:5130924|PMID:18056919 20110414 RGD protein:increased expression:pleural fluid 1305530 Ccl25 C-C motif chemokine ligand 25 gene DOID:12849 autistic disorder ISO RGD:1313608 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305530 Ccl25 C-C motif chemokine ligand 25 gene DOID:630 genetic disease ISO RGD:1313608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305530 Ccl25 C-C motif chemokine ligand 25 gene DOID:9004898 Jaundice IEP D RGD:5130926|PMID:18592157 20110414 RGD mRNA:decreased expression:ileum 1305531 Hspa12a heat shock protein family A (Hsp70) member 12A gene DOID:303 substance-related disorder ISO RGD:1313610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305531 Hspa12a heat shock protein family A (Hsp70) member 12A gene DOID:630 genetic disease ISO RGD:1313610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305532 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1305532 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:12849 autistic disorder ISO RGD:1313612 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305532 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1313612 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305532 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305532 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313612 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1305532 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313612 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305533 Tbce tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 1305533 Tbce tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:7240710 20130221 OMIM 1305533 Tbce tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:12389028|PMID:12389029|PMID:16199547|PMID:16938882|PMID:17576681|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:9536098 1305533 Tbce tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:7240710 20130221 OMIM 1305533 Tbce tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 PMID:12389028|PMID:15645691|PMID:16199547|PMID:2001103|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:7538982|PMID:9475091 1305533 Tbce tubulin folding cofactor E gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1313614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 1305533 Tbce tubulin folding cofactor E gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:23453667|PMID:25326637|PMID:25741868|PMID:28492532 1305533 Tbce tubulin folding cofactor E gene DOID:104 bacterial infectious disease ISO RGD:1313614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 1305533 Tbce tubulin folding cofactor E gene DOID:10907 microcephaly ISO RGD:1313614 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1305533 Tbce tubulin folding cofactor E gene DOID:11199 hypoparathyroidism ISO RGD:1313614 D RGD:1599303|PMID:12389028 20070130 RGD hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 1305533 Tbce tubulin folding cofactor E gene DOID:1540 parathyroid carcinoma ISO RGD:1313614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305533 Tbce tubulin folding cofactor E gene DOID:1923 disorder of sexual development ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193 1305533 Tbce tubulin folding cofactor E gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 1305533 Tbce tubulin folding cofactor E gene DOID:4254 osteosclerosis ISO RGD:1313614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 1305533 Tbce tubulin folding cofactor E gene DOID:630 genetic disease ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:25741868|PMID:27666369|PMID:28492532|PMID:7538982|PMID:9475091|PMID:9536098 1305533 Tbce tubulin folding cofactor E gene DOID:9001487 Facies ISO RGD:1313614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 1305533 Tbce tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:7240710 20190315 OMIM 1305533 Tbce tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868|PMID:27666369|PMID:28492532|PMID:34134906 1305533 Tbce tubulin folding cofactor E gene DOID:9007661 Dwarfism ISO RGD:1313614 D RGD:1599303|PMID:12389028 20070130 RGD Kenny-Caffey syndrome, OMIM:244460 1305533 Tbce tubulin folding cofactor E gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 1305533 Tbce tubulin folding cofactor E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313614 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305534 Dop1a DOP1 leucine zipper like protein A gene DOID:0080545 hyper IgE syndrome ISO RGD:1313616 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316 1305534 Dop1a DOP1 leucine zipper like protein A gene DOID:0111953 immunodeficiency 23 ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:14981714|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:28492532|PMID:33098103|PMID:9536098 1305534 Dop1a DOP1 leucine zipper like protein A gene DOID:627 severe combined immunodeficiency ISO RGD:1313616 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 1305534 Dop1a DOP1 leucine zipper like protein A gene DOID:630 genetic disease ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313618 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:7240710 20170726 OMIM 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:15258860|PMID:15314642|PMID:19236846|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32906206|PMID:33090715|PMID:35457050|PMID:9714014 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:7240710 20171011 OMIM 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:15314642|PMID:16199547|PMID:17160889|PMID:17576681|PMID:19236846|PMID:19858128|PMID:20142850|PMID:20177705|PMID:20498079|PMID:22334370|PMID:22410627|PMID:23219996|PMID:24400638|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27383656|PMID:27486776|PMID:27708425|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:29806606|PMID:31054281|PMID:31456290|PMID:31736247|PMID:32361989|PMID:32906206|PMID:33090715|PMID:33946315|PMID:34716235|PMID:35457050|PMID:7987310|PMID:8298649|PMID:9536098|PMID:9714014 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:7240710 20130425 OMIM 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 55 PMID:15258860|PMID:19858128|PMID:19956407|PMID:20142850|PMID:21282186|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313618 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15314642|PMID:17160889|PMID:19236846|PMID:19858128|PMID:19956407|PMID:20177705|PMID:20498079|PMID:21282186|PMID:22410627|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313618 D RGD:1578724|PMID:15314642 20110617 RGD DNA:missense mutations:multiple (human) 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:22773737|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31456290|PMID:31736247|PMID:32531858|PMID:32906206|PMID:33090715|PMID:35457050|PMID:7987310|PMID:8298649 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:630 genetic disease ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305535 Arl6 ADP-ribosylation factor like GTPase 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1313618 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 1305536 Hectd2 HECT domain E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1313620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305538 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1313623 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305538 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:303 substance-related disorder ISO RGD:1313623 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dopamine receptor d2, reduced brain density of PMID:10395223|PMID:11105655|PMID:15146457|PMID:15370155|PMID:15479180|PMID:18063800|PMID:18621654|PMID:18927395|PMID:9429233|PMID:9650634 1305538 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305538 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313623 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305538 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:93 language disorder ISO RGD:1313623 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 1305539 Cfap91 cilia and flagella associated protein 91 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1346781 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation PMID:32161152 1305539 Cfap91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:7240710 20210303 OMIM 1305539 Cfap91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 51 PMID:25741868|PMID:32161152 1305539 Cfap91 cilia and flagella associated protein 91 gene DOID:630 genetic disease ISO RGD:1346781 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305542 Fbl fibrillarin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1305542 Fbl fibrillarin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1305542 Fbl fibrillarin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1305542 Fbl fibrillarin gene DOID:2340 craniosynostosis ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1305542 Fbl fibrillarin gene DOID:3910 lung adenocarcinoma ISO RGD:1313628 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305542 Fbl fibrillarin gene DOID:417 autoimmune disease ISO RGD:1313628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8738957|PMID:9693280|PMID:19077085 1305542 Fbl fibrillarin gene DOID:630 genetic disease ISO RGD:1313628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305542 Fbl fibrillarin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1305542 Fbl fibrillarin gene DOID:9006205 Animal Disease Models ISO RGD:1313628 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305542 Fbl fibrillarin gene DOID:9008939 Breast Neoplasms ISO RGD:1313628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1305542 Fbl fibrillarin gene DOID:9269 maple syrup urine disease ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1305542 Fbl fibrillarin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1305544 Cdk14 cyclin-dependent kinase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313632 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305544 Cdk14 cyclin-dependent kinase 14 gene DOID:630 genetic disease ISO RGD:1313632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305544 Cdk14 cyclin-dependent kinase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1313632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 1305545 Metap1 methionyl aminopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1313634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:32764695 1305545 Metap1 methionyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:1313634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313636 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1313637 D RGD:11055469|PMID:25753423 20190710 RGD 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:12449 aplastic anemia ISO RGD:1313636 D RGD:14696669|PMID:28968996 20190710 RGD protein:decreased expression:bone marrow (human) 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:1405 primary angle-closure glaucoma ISO RGD:1313636 D RGD:14696671|PMID:29332228 20190710 RGD protein:increased expression:aqueous humor of eyeball (human) 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:1826 epilepsy ISO RGD:1313636 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313636 D RGD:14696682|PMID:12036940 20190711 RGD mRNA:decreased expression:lung (human) 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:5386 lung adenoma ISO RGD:1313636 D RGD:10047051|PMID:14647414 20190711 RGD mRNA:decreased expression:lung (human) 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:630 genetic disease ISO RGD:1313636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1313636 D RGD:14696679|PMID:25724728 20190711 RGD protein:increased expression:serum (human) 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:9008023 Memory Disorders ISO RGD:1313637 D RGD:14696672|PMID:21191042 20190710 RGD 1305546 Anapc2 anaphase promoting complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313636 D RGD:11067888|PMID:26046517 20190710 RGD mRNA:increased expression:blood (human) 1305547 Ints2 integrator complex subunit 2 gene DOID:11372 megacolon ISO RGD:1606257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1305547 Ints2 integrator complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305548 Stac2 SH3 and cysteine rich domain 2 gene DOID:630 genetic disease ISO RGD:1313639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305548 Stac2 SH3 and cysteine rich domain 2 gene DOID:9002189 High Myopia ISO RGD:1313639 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1305548 Stac2 SH3 and cysteine rich domain 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313639 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1305549 Ms4a7 membrane spanning 4-domains A7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1305549 Ms4a7 membrane spanning 4-domains A7 gene DOID:1059 intellectual disability ISO RGD:1313641 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305549 Ms4a7 membrane spanning 4-domains A7 gene DOID:630 genetic disease ISO RGD:1313641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305550 Eps15 epidermal growth factor receptor pathway substrate 15 gene DOID:630 genetic disease ISO RGD:1313642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305551 Rassf2 Ras association domain family member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1305551 Rassf2 Ras association domain family member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1305551 Rassf2 Ras association domain family member 2 gene DOID:630 genetic disease ISO RGD:1313644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305551 Rassf2 Ras association domain family member 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 1305551 Rassf2 Ras association domain family member 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1313644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 1305552 Med8 mediator complex subunit 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313646 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305552 Med8 mediator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1313646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305553 Telo2 telomere maintenance 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1305553 Telo2 telomere maintenance 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 1305553 Telo2 telomere maintenance 2 gene DOID:10907 microcephaly ISO RGD:1605097 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1305553 Telo2 telomere maintenance 2 gene DOID:1826 epilepsy ISO RGD:1605097 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305553 Telo2 telomere maintenance 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605097 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305553 Telo2 telomere maintenance 2 gene DOID:630 genetic disease ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1305553 Telo2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:7240710 20190315 OMIM 1305553 Telo2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:27132593|PMID:28492532|PMID:32940098 1305556 Nelfa negative elongation factor complex member A gene DOID:1856 cherubism ISO RGD:1313651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1305556 Nelfa negative elongation factor complex member A gene DOID:630 genetic disease ISO RGD:1313651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305557 Tmem59l transmembrane protein 59-like gene DOID:5119 ovarian cyst ISO RGD:1313653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1305557 Tmem59l transmembrane protein 59-like gene DOID:630 genetic disease ISO RGD:1313653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305557 Tmem59l transmembrane protein 59-like gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1305558 Ttk Ttk protein kinase gene DOID:0080600 COVID-19 ISO RGD:1313655 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305558 Ttk Ttk protein kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1313655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1305558 Ttk Ttk protein kinase gene DOID:630 genetic disease ISO RGD:1313655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305558 Ttk Ttk protein kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1313655 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305558 Ttk Ttk protein kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313655 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 1305558 Ttk Ttk protein kinase gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1313655 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 1305558 Ttk Ttk protein kinase gene DOID:9269 maple syrup urine disease ISO RGD:1313655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 1305559 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305559 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305559 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305559 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:630 genetic disease ISO RGD:1313657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305561 Satb1 SATB homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305561 Satb1 SATB homeobox 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1313660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305561 Satb1 SATB homeobox 1 gene DOID:12894 Sjogren's syndrome ISS RGD:1313661 D RGD:13592920 20220616 MouseDO OMIM:270150 1305561 Satb1 SATB homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313660 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305561 Satb1 SATB homeobox 1 gene DOID:630 genetic disease ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16371359|PMID:17652321|PMID:27462121|PMID:33513338 1305561 Satb1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:7240710 20210414 OMIM 1305561 Satb1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies PMID:25741868|PMID:28492532|PMID:33513338|PMID:34782754 1305561 Satb1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:7240710 20210414 OMIM 1305561 Satb1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like PMID:15930900|PMID:16371359|PMID:17652321|PMID:25741868|PMID:27462121|PMID:28492532|PMID:33513338|PMID:34782754 1305561 Satb1 SATB homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313660 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305561 Satb1 SATB homeobox 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313660 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305561 Satb1 SATB homeobox 1 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:1313660 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:29403011 1305562 Xpot exportin for tRNA gene DOID:630 genetic disease ISO RGD:1313662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305563 Cpa2 carboxypeptidase A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313664 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305563 Cpa2 carboxypeptidase A2 gene DOID:630 genetic disease ISO RGD:1313664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305563 Cpa2 carboxypeptidase A2 gene DOID:9002669 Hypoxia ISO RGD:1313664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 1305564 Klhl7 kelch-like family member 7 gene DOID:0050646 distal arthrogryposis ISO RGD:1313665 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:29074562 1305564 Klhl7 kelch-like family member 7 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1313665 D RGD:11554173 20180809 CTD CTD Direct Evidence: marker/mechanism 1305564 Klhl7 kelch-like family member 7 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1313665 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:25741868|PMID:27392078 1305564 Klhl7 kelch-like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:7240710 20190315 OMIM 1305564 Klhl7 kelch-like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 | ClinVar Annotator: match by term: PERCHING syndrome PMID:17576681|PMID:18414213|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:30997404|PMID:31953236|PMID:35670385|PMID:35699517|PMID:9536098 1305564 Klhl7 kelch-like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:7240710 20130425 OMIM 1305564 Klhl7 kelch-like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 42 PMID:17576681|PMID:1872134|PMID:19520207|PMID:21828050|PMID:22084217|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884|PMID:35670385|PMID:9536098 1305564 Klhl7 kelch-like family member 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19520207|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32581362 1305564 Klhl7 kelch-like family member 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313665 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305564 Klhl7 kelch-like family member 7 gene DOID:630 genetic disease ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21828050|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236 1305564 Klhl7 kelch-like family member 7 gene DOID:8501 fundus dystrophy ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19520207|PMID:21828050|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884 1305564 Klhl7 kelch-like family member 7 gene DOID:9001582 Bohring Syndrome ISO RGD:1313665 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:25741868 1305564 Klhl7 kelch-like family member 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305565 Supv3l1 Suv3 like RNA helicase gene DOID:1697 ichthyosis ISO RGD:1313667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 1305565 Supv3l1 Suv3 like RNA helicase gene DOID:630 genetic disease ISO RGD:1313667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305565 Supv3l1 Suv3 like RNA helicase gene DOID:9001946 Skin Abnormalities ISO RGD:1313667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 1305565 Supv3l1 Suv3 like RNA helicase gene DOID:9008824 Sarcopenia ISO RGD:1313667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 1305565 Supv3l1 Suv3 like RNA helicase gene DOID:987 alopecia ISO RGD:1313667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 1305566 Upp1 uridine phosphorylase 1 gene DOID:0060496 respiratory allergy ISO RGD:1313669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 1305566 Upp1 uridine phosphorylase 1 gene DOID:2843 long QT syndrome ISO RGD:1313669 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305566 Upp1 uridine phosphorylase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1313669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1305566 Upp1 uridine phosphorylase 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:2317094|PMID:18457515 20110610 RGD mRNA, protein:increased expression:brain (rat) 1305566 Upp1 uridine phosphorylase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313669 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305567 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1313671 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305567 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1313671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1305567 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1305567 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:630 genetic disease ISO RGD:1313671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305568 Pax2 paired box 2 gene DOID:0080204 renal hypoplasia ISO RGD:1313673 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:35005812 1305568 Pax2 paired box 2 gene DOID:0080205 CAKUT ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 1305568 Pax2 paired box 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 1305568 Pax2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:7240710 20130221 OMIM 1305568 Pax2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome PMID:10466411|PMID:10533062|PMID:11093271|PMID:11241473|PMID:11461952|PMID:15652857|PMID:16199547|PMID:17576681|PMID:20221250|PMID:20358591|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24033266|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:2644560|PMID:27226968|PMID:27657687|PMID:28041643|PMID:28492532|PMID:28566479|PMID:29054766|PMID:29973660|PMID:30076350|PMID:30241513|PMID:30773290|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32203253|PMID:32604935|PMID:32776440|PMID:33532864|PMID:3377002|PMID:34031707|PMID:34059960|PMID:34696790|PMID:7795640|PMID:8589702|PMID:8943028|PMID:9106533|PMID:9536098|PMID:9760197 1305568 Pax2 paired box 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1313673 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:27657687 1305568 Pax2 paired box 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 1305568 Pax2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:7240710 20170222 OMIM 1305568 Pax2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 PMID:11093271|PMID:11241473|PMID:11461952|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32604935|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 1305568 Pax2 paired box 2 gene DOID:1184 nephrotic syndrome ISO RGD:1313673 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 1305568 Pax2 paired box 2 gene DOID:12270 coloboma ISO RGD:1313673 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 1305568 Pax2 paired box 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313673 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1305568 Pax2 paired box 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:8589702|PMID:9106533 1305568 Pax2 paired box 2 gene DOID:1826 epilepsy ISO RGD:1313673 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1305568 Pax2 paired box 2 gene DOID:2154 nephroblastoma IEP D RGD:2316757|PMID:7937920 20100222 RGD mRNA:increased expression:kidney 1305568 Pax2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1313673 D RGD:2316755|PMID:12057921 20100222 RGD mRNA:increased expression:kidney 1305568 Pax2 paired box 2 gene DOID:289 endometriosis ISO RGD:1313673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22473392 1305568 Pax2 paired box 2 gene DOID:2975 cystic kidney disease ISO RGD:1313673 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Renal cyst 1305568 Pax2 paired box 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1313673 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 1305568 Pax2 paired box 2 gene DOID:630 genetic disease ISO RGD:1313673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960|PMID:34696790 1305568 Pax2 paired box 2 gene DOID:783 end stage renal disease ISO RGD:1313673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16631587 1305568 Pax2 paired box 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1313673 D RGD:155631310|PMID:33298161 20221101 RGD human cells in rat model 1305568 Pax2 paired box 2 gene DOID:8501 fundus dystrophy ISO RGD:1313673 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 1305568 Pax2 paired box 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2316747|PMID:15149326 20100219 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex 1305568 Pax2 paired box 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1313673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 1305568 Pax2 paired box 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:727468|PMID:12444203 20100222 RGD mRNA, protein:increased expression:kidney 1305569 Arl5b ADP-ribosylation factor like GTPase 5B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313675 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305569 Arl5b ADP-ribosylation factor like GTPase 5B gene DOID:0080600 COVID-19 ISO RGD:1313675 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305569 Arl5b ADP-ribosylation factor like GTPase 5B gene DOID:1909 melanoma ISO RGD:1313675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1305569 Arl5b ADP-ribosylation factor like GTPase 5B gene DOID:630 genetic disease ISO RGD:1313675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0050440 familial partial lipodystrophy ISS RGD:1313678 D RGD:13592920 20180518 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0060762 restrictive dermopathy ISO RGD:1313677 D RGD:10043097|PMID:16297189 20150513 RGD DNA:duplication:exon:c.591dupT (human) 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0060762 restrictive dermopathy ISO RGD:1313677 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0060762 restrictive dermopathy ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:18671782|PMID:19020898|PMID:19139791|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20101687|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21488301|PMID:21831885|PMID:22495976|PMID:22718200|PMID:22981120|PMID:24169522|PMID:25629449|PMID:25741868|PMID:26379196|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:7240710 20230505 OMIM 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:19020898|PMID:19139791|PMID:20034068|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0081127 mandibuloacral dysplasia ISO RGD:1313677 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:7240710 20130221 OMIM 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:19020898|PMID:19139791|PMID:19383993|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20635340|PMID:20814950|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313677 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISS RGD:1313678 D RGD:13592920 20180518 MouseDO OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:630 genetic disease ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313678 D RGD:10043099|PMID:21828285 20150513 RGD 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:9001402 Acro-Osteolysis ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12913070|PMID:17152860 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:9002644 Premature Aging ISO RGD:1313678 D RGD:10043096|PMID:19014358 20150513 RGD 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:9006105 Craniomandibular Disorders ISO RGD:1313678 D RGD:10043096|PMID:19014358 20150513 RGD 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:9006309 Mandibular Diseases ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 1305570 Zmpste24 zinc metallopeptidase STE24 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1313677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:7240710 20200228 OMIM 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jalili syndrome PMID:15173235|PMID:17576681|PMID:19200525|PMID:19200527|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3236352|PMID:9536098 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:1059 intellectual disability ISO RGD:1313679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:5419 schizophrenia ISO RGD:1313679 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:630 genetic disease ISO RGD:1313679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:8501 fundus dystrophy ISO RGD:1313679 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1305571 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:9001979 Amaurosis Hypertrichosis ISO RGD:1313679 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism 1305572 Sde2 SDE2 telomere maintenance homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305572 Sde2 SDE2 telomere maintenance homolog gene DOID:630 genetic disease ISO RGD:1603354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305572 Sde2 SDE2 telomere maintenance homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603354 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305573 Rpl38 ribosomal protein L38 gene DOID:10754 otitis media ISS RGD:1313683 D RGD:13592920 20180518 MouseDO OMIM:166760 1305574 Polr3a RNA polymerase III subunit A gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:1351863 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:29389947 1305574 Polr3a RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:7240710 20141015 OMIM 1305574 Polr3a RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:12605447|PMID:16199547|PMID:17159124|PMID:17576681|PMID:20640464|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23355746|PMID:23694757|PMID:23965854|PMID:25339210|PMID:25741868|PMID:26096995|PMID:26752647|PMID:27029625|PMID:27506977|PMID:27521716|PMID:27535217|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29618326|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33134517|PMID:33491183|PMID:33644862|PMID:34284285|PMID:34589056|PMID:614258|PMID:9536098 1305574 Polr3a RNA polymerase III subunit A gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:21855841|PMID:22855961|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183 1305574 Polr3a RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:7240710 20190612 OMIM 1305574 Polr3a RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:12605447|PMID:16007586|PMID:16199547|PMID:19938095|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:25898808|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33491183|PMID:614258 1305574 Polr3a RNA polymerase III subunit A gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:1351863 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:25741868 1305574 Polr3a RNA polymerase III subunit A gene DOID:10579 leukodystrophy ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:16199547|PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28459997|PMID:28492532|PMID:30414627|PMID:30450527|PMID:30847471 1305574 Polr3a RNA polymerase III subunit A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:22855961|PMID:25741868|PMID:27029625 1305574 Polr3a RNA polymerase III subunit A gene DOID:630 genetic disease ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21855841|PMID:22855961|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26752647|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183|PMID:9536098 1305574 Polr3a RNA polymerase III subunit A gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33491183|PMID:34589056|PMID:614258 1305574 Polr3a RNA polymerase III subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 1305575 Osgepl1 O-sialoglycoprotein endopeptidase-like 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1305575 Osgepl1 O-sialoglycoprotein endopeptidase-like 1 gene DOID:630 genetic disease ISO RGD:1313685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305575 Osgepl1 O-sialoglycoprotein endopeptidase-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313685 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0050156 idiopathic pulmonary fibrosis exacerbates ISO RGD:1602894 D RGD:150429642|PMID:33533494 20210910 RGD associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602894 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29276005|PMID:31474318|PMID:32710489 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:1602894 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:27993330 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:10534 stomach cancer exacerbates ISO RGD:1602894 D RGD:150429638|PMID:29522714 20210910 RGD mRNA:decreased expression:stomach (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602894 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:10908 hydrocephalus ISO RGD:1602894 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1240 leukemia ISO RGD:1602894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24509477 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1602894 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:150429641|PMID:27834213 20210910 RGD DNA:mutations:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602894 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:2785 Dandy-Walker syndrome ISO RGD:1602894 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1602894 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3307 teratoma ISO RGD:1602894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3571 liver cancer ISO RGD:1602894 D RGD:11530741|PMID:26172293 20210910 RGD protein:decreased expression:liver (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1602894 D RGD:150429633|PMID:33223508 20210910 RGD human cells and genes in mouse model 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1602894 D RGD:150429649|PMID:27687306 20210910 RGD DNA:mutations:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1621311 D RGD:126848875|PMID:28202515 20210910 RGD 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1602894 D RGD:150429648|PMID:33707235 20210910 RGD 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1602894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1602894 D RGD:6907137|PMID:21654818 20121030 RGD 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602894 D RGD:150429635|PMID:26864202 20210910 RGD DNA:SNPs,loss of heterozygosity:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1602894 D RGD:150429640|PMID:26891804 20210910 RGD DNA:mutations:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26580448|PMID:27317772|PMID:28424246|PMID:28492532|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32710489|PMID:33004838 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma ISO RGD:1602894 D RGD:150429647|PMID:26928227 20210910 RGD DNA:mutations:CDS:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1602894 D RGD:150520202|PMID:33691361 20211105 RGD 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9000027 Microsatellite Instability ISO RGD:1602894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1602894 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:25741868|PMID:29276005|PMID:31474318|PMID:32710489 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602894 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:1602894 D RGD:150429643|PMID:27600764 20210910 RGD DNA:mutations:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004240 Phyllodes Tumor ISO RGD:1602894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602894 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602894 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:7240710 20221221 OMIM 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:32710489 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:7240710 20190315 OMIM 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome PMID:17576681|PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:27455002|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32668055|PMID:32710489|PMID:33004838|PMID:9536098 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009131 Ventriculomegaly ISO RGD:1602894 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor exacerbates ISO RGD:1602894 D RGD:150429637|PMID:26338826 20210910 RGD DNA:mutations:multiple (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:150429645|PMID:26069251 20210910 RGD mRNA:decreased expression:colon (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:150429646|PMID:24925220 20210910 RGD DNA:frameshift mutation:exon 3:c.4219delA (human) 1305576 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1621311 D RGD:150429636|PMID:28825595 20210910 RGD 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1313689 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:7240710 20190315 OMIM 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 70 PMID:25741868|PMID:26196677|PMID:28492532 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313689 D RGD:10412048|PMID:19946466 20151112 RGD 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313690 D RGD:10412050|PMID:17070803 20151112 RGD 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:630 genetic disease ISO RGD:1313689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313689 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313689 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23770000 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:10412049|PMID:17931356 20151112 RGD protein:increased expression:dentate gyrus 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1305577 Mcm2 minichromosome maintenance complex component 2 gene DOID:9270 alkaptonuria ISO RGD:1313689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1305578 Cdcp1 CUB domain containing protein 1 gene DOID:2661 myoepithelioma ISO RGD:1601855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1305578 Cdcp1 CUB domain containing protein 1 gene DOID:303 substance-related disorder ISO RGD:1601855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305578 Cdcp1 CUB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1601855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305579 Swap70 switching B-cell complex subunit SWAP70 gene DOID:630 genetic disease ISO RGD:1604631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305580 Diras2 DIRAS family GTPase 2 gene DOID:630 genetic disease ISO RGD:1313693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305581 Itgb2 integrin subunit beta 2 gene DOID:0040084 Streptococcus pneumonia susceptibility ISO RGD:1313695 D RGD:127345090|PMID:11390487 20210708 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1313694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1305581 Itgb2 integrin subunit beta 2 gene DOID:0060180 colitis ISO RGD:1313695 D RGD:6482227|PMID:11031123 20120419 RGD associated with Spirochaetales infections 1305581 Itgb2 integrin subunit beta 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 1305581 Itgb2 integrin subunit beta 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1305581 Itgb2 integrin subunit beta 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1305581 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:7240710 20131030 OMIM 1305581 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 PMID:10886250|PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:1346132|PMID:1346613|PMID:1347532|PMID:1590804|PMID:16199547|PMID:16595236|PMID:1694220|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21103413|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:30412664|PMID:30919141|PMID:32279896|PMID:33391282|PMID:36353617|PMID:6142255|PMID:7143170|PMID:7686755|PMID:7705401|PMID:9536098|PMID:9884339 1305581 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 susceptibility ISO RGD:1313694 D RGD:6482224|PMID:20549317 20210701 RGD DNA:polymorphisms:multiple (human) 1305581 Itgb2 integrin subunit beta 2 gene DOID:10952 nephritis treatment IMP D RGD:8547716|PMID:8773354 20140220 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:1205 allergic disease ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1305581 Itgb2 integrin subunit beta 2 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313694 D RGD:6482200|PMID:21297967 20120417 RGD protein:decreased expression:T cell 1305581 Itgb2 integrin subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1313694 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305581 Itgb2 integrin subunit beta 2 gene DOID:13241 Behcet's disease ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 1305581 Itgb2 integrin subunit beta 2 gene DOID:182 calcinosis ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1305581 Itgb2 integrin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 1305581 Itgb2 integrin subunit beta 2 gene DOID:2723 dermatitis ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 1305581 Itgb2 integrin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:1313695 D RGD:6907051|PMID:19752320 20121024 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:1313695 D RGD:6907066|PMID:15277234 20121024 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:4079 heart valve disease ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1305581 Itgb2 integrin subunit beta 2 gene DOID:4247 coronary restenosis ISO RGD:1313694 D RGD:1581185|PMID:11703955 19990101 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:4481 allergic rhinitis treatment IEP D RGD:9698435|PMID:12046991 20210708 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:4989 pancreatitis ISO RGD:1313695 D RGD:6482196|PMID:22490516 20120417 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:552 pneumonia IMP D RGD:6482228|PMID:10030843 20120419 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1305581 Itgb2 integrin subunit beta 2 gene DOID:630 genetic disease ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7143170|PMID:7686755|PMID:7705401 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:1600220|PMID:1968911 20070305 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:6482222|PMID:10886250 20120418 RGD DNA:mutations:cds:p.D231H, G284S (human) 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:6482223|PMID:21103413 20120419 RGD DNA:mutation:exon:p.R188X(human) 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:6482224|PMID:20549317 20120419 RGD DNA:mutations:multiple 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:6482225|PMID:14512306 20120419 RGD DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human) 1305581 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:8554872 20141104 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1305581 Itgb2 integrin subunit beta 2 gene DOID:820 myocarditis ISO RGD:1313694 D RGD:13702915|PMID:9556870 20180724 RGD protein:increased expression:serum 1305581 Itgb2 integrin subunit beta 2 gene DOID:8283 peritonitis ameliorates ISO RGD:1313695 D RGD:127345091|PMID:18239087 20210708 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:8549 chronic ulcer of skin ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 1305581 Itgb2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:6482221|PMID:19812597 20120418 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:8893 psoriasis ISS RGD:1313695 D RGD:13592920 20180518 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 1305581 Itgb2 integrin subunit beta 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313694 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1305581 Itgb2 integrin subunit beta 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1313694 D RGD:11085957|PMID:26188538 20180530 RGD mRNA:increased expression:artery 1305581 Itgb2 integrin subunit beta 2 gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1313694 D RGD:127285814|PMID:25041527 20210701 RGD associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) 1305581 Itgb2 integrin subunit beta 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1313694 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:increased expression:gingival tissues (human) 1305581 Itgb2 integrin subunit beta 2 gene DOID:9001341 Chloracne ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1305581 Itgb2 integrin subunit beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305581 Itgb2 integrin subunit beta 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1313695 D RGD:6907072|PMID:11907109 20121025 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9002457 Experimental Arthritis IMP D RGD:6482229|PMID:8881759 20120419 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1313695 D RGD:6482197|PMID:18615643 20120417 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9002805 Enterocolitis ISO RGD:1313694 D RGD:6482226|PMID:18675632 20120419 RGD associated with Hirschsprung Disease;DNA:polymorphisms:multiple 1305581 Itgb2 integrin subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313694 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305581 Itgb2 integrin subunit beta 2 gene DOID:9004610 Acute Lung Injury IMP D RGD:6482199|PMID:1374449 20120417 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:6907073|PMID:11007822 20121025 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1313694 D RGD:6907049|PMID:20504838 20121024 RGD Associated with renal transplant patients 1305581 Itgb2 integrin subunit beta 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313694 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 1305581 Itgb2 integrin subunit beta 2 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:1313695 D RGD:13702914|PMID:9822282 20180724 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9065 leishmaniasis ameliorates ISO RGD:1313695 D RGD:127285813|PMID:14502280 20210701 RGD 1305581 Itgb2 integrin subunit beta 2 gene DOID:9263 homocystinuria ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1305581 Itgb2 integrin subunit beta 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:1313695 D RGD:8547590|PMID:7743671 20210708 RGD protein:increased expression:lung (mouse) 1305581 Itgb2 integrin subunit beta 2 gene DOID:9500 leukocyte disease ISO RGD:1313694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2880869|PMID:9653089 1305581 Itgb2 integrin subunit beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305584 Dhrs3 dehydrogenase/reductase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1305584 Dhrs3 dehydrogenase/reductase 3 gene DOID:630 genetic disease ISO RGD:1313699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305584 Dhrs3 dehydrogenase/reductase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1313701 D RGD:7240710 20130221 OMIM 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11381124|PMID:11506412|PMID:12218063|PMID:15563506|PMID:15689448|PMID:16075202|PMID:16199547|PMID:16935502|PMID:17886299|PMID:18366090|PMID:18414213|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20106987|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30564623|PMID:32860008|PMID:33481221|PMID:34167565|PMID:7695699|PMID:8218237 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1313701 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29406609|PMID:29419890|PMID:30564623|PMID:31127727|PMID:34167565|PMID:9536098 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0080600 COVID-19 ISO RGD:1313701 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1313701 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:12849 autistic disorder ISO RGD:1313701 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1313701 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:423 myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:19884007|PMID:19949035|PMID:25741868|PMID:28492532|PMID:29419890|PMID:31127727|PMID:33481221 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15563506|PMID:15689448|PMID:17785673|PMID:17886299|PMID:19344236|PMID:20976770|PMID:24038877|PMID:24271325|PMID:25204870|PMID:25741868|PMID:27854218|PMID:28492532|PMID:30564623|PMID:34167565|PMID:7695699|PMID:8218237 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:1313701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1313701 D RGD:7240710 20190327 OMIM 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11381124|PMID:11865138|PMID:12218063|PMID:12840783|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20106987|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22992134|PMID:23040494|PMID:23170014|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24134684|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25326637|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27363342|PMID:27447704|PMID:27453230|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30755392|PMID:31066050|PMID:31127727|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:32860008|PMID:33146414|PMID:33250842|PMID:33481221|PMID:34167565|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9334230|PMID:9536098 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1313701 D RGD:1600934|PMID:8782832 20070402 RGD Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1600938|PMID:7791542 20070402 RGD Protein:increased expression:liver 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9005532 Muscle Weakness ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30755392 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9007114 Mobility Limitation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:7240710 20130221 OMIM 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive PMID:12840783|PMID:15689448|PMID:16130093|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18852439|PMID:19309692|PMID:19564581|PMID:19949035|PMID:20301676|PMID:20576434|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:31127727|PMID:34167565|PMID:4793163|PMID:9536098 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29419890|PMID:30564623|PMID:31127727|PMID:34167565|PMID:9536098 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9263 homocystinuria ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305585 Col6a2 collagen type VI alpha 2 chain gene DOID:9884 muscular dystrophy ISO RGD:1313701 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25535305|PMID:25741868 1305586 Tmem45b transmembrane protein 45b gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348060 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1305586 Tmem45b transmembrane protein 45b gene DOID:5419 schizophrenia ISO RGD:1348060 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305586 Tmem45b transmembrane protein 45b gene DOID:630 genetic disease ISO RGD:1348060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305586 Tmem45b transmembrane protein 45b gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348060 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305586 Tmem45b transmembrane protein 45b gene DOID:9007661 Dwarfism ISO RGD:1348060 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305588 Rag2 recombination activating 2 gene DOID:0060010 Omenn syndrome ISO RGD:1313706 D RGD:1599403|PMID:9630231 20070201 RGD 1305588 Rag2 recombination activating 2 gene DOID:0060010 Omenn syndrome ISO RGD:1313706 D RGD:7240710 20130221 OMIM 1305588 Rag2 recombination activating 2 gene DOID:0060012 recombinase activating gene 2 deficiency ISO RGD:1313706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency PMID:20234091|PMID:25741868|PMID:28492532|PMID:29772310 1305588 Rag2 recombination activating 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1313706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 1305588 Rag2 recombination activating 2 gene DOID:0080915 histiocytic sarcoma ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19470080|PMID:19912631|PMID:20234091|PMID:20603253|PMID:21131235|PMID:21502542|PMID:21624848|PMID:21625022|PMID:22295088|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24481607|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:8810255|PMID:9630231 1305588 Rag2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:7240710 20130221 OMIM 1305588 Rag2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:10777560|PMID:10891502|PMID:11133745|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:8810255 1305588 Rag2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:7240710 20130221 OMIM 1305588 Rag2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19763152|PMID:20234091|PMID:20307669|PMID:20603253|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:22295088|PMID:22406018|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:24290284|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25842288|PMID:25869295|PMID:2618670|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:26996199|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29658452|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31058115|PMID:31334206|PMID:31388879|PMID:31838659|PMID:32445296|PMID:32531373|PMID:32581362|PMID:32655540|PMID:32888943|PMID:33505738|PMID:33628209|PMID:8810255|PMID:9630231 1305588 Rag2 recombination activating 2 gene DOID:1059 intellectual disability ISO RGD:1313706 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305588 Rag2 recombination activating 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:18463379|PMID:21664875|PMID:24331380|PMID:24996264|PMID:25741868|PMID:26457731|PMID:26996199|PMID:28492532|PMID:29772310|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 1305588 Rag2 recombination activating 2 gene DOID:627 severe combined immunodeficiency IMP D RGD:38508903|PMID:30206106 20200821 RGD 1305588 Rag2 recombination activating 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1313706 D RGD:1599402|PMID:8810255 20070201 RGD 1305588 Rag2 recombination activating 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15025726|PMID:18463379|PMID:20603253|PMID:21131235|PMID:21664875|PMID:24174341|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26996199|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 1305588 Rag2 recombination activating 2 gene DOID:630 genetic disease ISO RGD:1313706 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33628209 1305588 Rag2 recombination activating 2 gene DOID:9000156 Metaplasia ISO RGD:1313706 D RGD:11554173 20171114 CTD CTD Direct Evidence: therapeutic PMID:27315767 1305588 Rag2 recombination activating 2 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:20603253|PMID:21131235|PMID:24481607|PMID:25741868|PMID:26476733|PMID:26515615|PMID:28492532|PMID:29772310 1305588 Rag2 recombination activating 2 gene DOID:9001371 Eosinophilia ISO RGD:1313706 D RGD:11554173 20171114 CTD CTD Direct Evidence: therapeutic PMID:27315767 1305588 Rag2 recombination activating 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1313706 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20974942 1305589 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1313708 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305589 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:630 genetic disease ISO RGD:1313708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305589 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1313708 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 1305589 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000918 Disease Progression ISO RGD:1313708 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 1305589 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1313708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:7240710 20130221 OMIM 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:10665502|PMID:12692552|PMID:17309654|PMID:17945526|PMID:19285442|PMID:24033266|PMID:25741868|PMID:28492532 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:630 genetic disease ISO RGD:1313710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19846172|PMID:21235735|PMID:28492532|PMID:29713611|PMID:30782561|PMID:9536098 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313710 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305590 Sar1b secretion associated, Ras related GTPase 1B gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1313710 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:12692552|PMID:25741868 1305591 Ccdc15 coiled-coil domain containing 15 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1305591 Ccdc15 coiled-coil domain containing 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605034 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1305591 Ccdc15 coiled-coil domain containing 15 gene DOID:5419 schizophrenia ISO RGD:1605034 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305591 Ccdc15 coiled-coil domain containing 15 gene DOID:630 genetic disease ISO RGD:1605034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305591 Ccdc15 coiled-coil domain containing 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605034 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305591 Ccdc15 coiled-coil domain containing 15 gene DOID:9007661 Dwarfism ISO RGD:1605034 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606780 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1606780 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606780 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23077026|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532|PMID:30980674 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:12849 autistic disorder ISO RGD:1606780 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1606780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606780 D RGD:153344568|PMID:33833989 20220826 RGD mRNA, protein:decreased expression:esophagus (human) 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:5419 schizophrenia ISO RGD:1606780 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:630 genetic disease ISO RGD:1606780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1606780 D RGD:153344568|PMID:33833989 20220826 RGD protein:decreased expression:esophagus (human) 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: lethal neurodevelopmental disorder PMID:25741868|PMID:34585832 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606780 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1606780 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1305592 Pagr1 Paxip1-associated glutamate-rich protein 1 gene DOID:9009121 lung metastasis ISO RGD:1606780 D RGD:153344568|PMID:33833989 20220826 RGD human cells in mouse model 1305594 Evx2 even-skipped homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1348415 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1305594 Evx2 even-skipped homeobox 2 gene DOID:630 genetic disease ISO RGD:1348415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305595 Adgre5 adhesion G protein-coupled receptor E5 gene DOID:1793 pancreatic cancer ISO RGD:1313717 D RGD:2317573|PMID:12428789 20100412 RGD protein:increased expression:pancreas 1305595 Adgre5 adhesion G protein-coupled receptor E5 gene DOID:630 genetic disease ISO RGD:1313717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305595 Adgre5 adhesion G protein-coupled receptor E5 gene DOID:850 lung disease ISO RGD:1313717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 1305597 Samd4b sterile alpha motif domain containing 4B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1305597 Samd4b sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1605980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305597 Samd4b sterile alpha motif domain containing 4B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1313721 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:7240710 20140911 OMIM 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:16199547|PMID:20593214|PMID:23332916|PMID:23332917|PMID:24252062|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565|PMID:30308956 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1313721 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532|PMID:29453417 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1313721 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313721 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313721 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 1305598 Gba2 glucosylceramidase beta 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:20593214|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565 1305598 Gba2 glucosylceramidase beta 2 gene DOID:607 paraplegia ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28052128|PMID:28492532|PMID:29453417|PMID:32590105|PMID:9536098 1305598 Gba2 glucosylceramidase beta 2 gene DOID:630 genetic disease ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23332916|PMID:23332917|PMID:25741868|PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1313721 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305598 Gba2 glucosylceramidase beta 2 gene DOID:9870 galactosemia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305600 U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1305600 U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1305600 U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 gene DOID:543 dystonia ISO RGD:1343980 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1305600 U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 gene DOID:630 genetic disease ISO RGD:1343980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305601 Rsph14 radial spoke head 14 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1313725 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1305601 Rsph14 radial spoke head 14 homolog gene DOID:5419 schizophrenia ISO RGD:1313725 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305601 Rsph14 radial spoke head 14 homolog gene DOID:630 genetic disease ISO RGD:1313725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305602 Ephb3 Eph receptor B3 gene DOID:0111546 Currarino syndrome ISO RGD:1313727 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1305602 Ephb3 Eph receptor B3 gene DOID:12365 malaria IEP D RGD:127285023|PMID:25784101 20210616 RGD 1305602 Ephb3 Eph receptor B3 gene DOID:630 genetic disease ISO RGD:1313727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305603 Pfdn1 prefoldin subunit 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313729 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1305603 Pfdn1 prefoldin subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305603 Pfdn1 prefoldin subunit 1 gene DOID:630 genetic disease ISO RGD:1313729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305603 Pfdn1 prefoldin subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313729 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305603 Pfdn1 prefoldin subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305604 Ccdc30 coiled-coil domain containing 30 gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 1305604 Ccdc30 coiled-coil domain containing 30 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605139 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305604 Ccdc30 coiled-coil domain containing 30 gene DOID:630 genetic disease ISO RGD:1605139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305605 Nop14 NOP14 nucleolar protein gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1313732 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1305605 Nop14 NOP14 nucleolar protein gene DOID:1856 cherubism ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1305605 Nop14 NOP14 nucleolar protein gene DOID:630 genetic disease ISO RGD:1313732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305606 Otud4 OTU deubiquitinase 4 gene DOID:13938 amenorrhea ISO RGD:1603307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 1305606 Otud4 OTU deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1603307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305607 Adamtsl5 ADAMTS-like 5 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1305607 Adamtsl5 ADAMTS-like 5 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1305607 Adamtsl5 ADAMTS-like 5 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1305607 Adamtsl5 ADAMTS-like 5 gene DOID:630 genetic disease ISO RGD:1313735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305607 Adamtsl5 ADAMTS-like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313735 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313737 D RGD:13831357|PMID:11172604 20190107 RGD 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1313737 D RGD:13831358|PMID:25376607 20190107 RGD 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma ISO RGD:1313737 D RGD:13831355|PMID:12507886 20190107 RGD mRNA:decreased expression:brain: 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma treatment ISO RGD:1313737 D RGD:13831352|PMID:16244591 20190107 RGD 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313737 D RGD:13831356|PMID:23761815 20190107 RGD 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1313737 D RGD:13831350|PMID:11875720 20190107 RGD mRNA:decreased expression:pancreas 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1313737 D RGD:13831349|PMID:21511296 20190107 RGD 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:630 genetic disease ISO RGD:1313737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313737 D RGD:13831357|PMID:11172604 20190107 RGD associated with stomach cancer; 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313737 D RGD:13831353|PMID:9772287 20190107 RGD associated with colorectal cancer 1305608 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9256 colorectal cancer ISO RGD:1313737 D RGD:13831353|PMID:9772287 20190107 RGD mRNA:decreased expression:colorectum 1305609 Shcbp1l SHC binding and spindle associated 1 like gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1305609 Shcbp1l SHC binding and spindle associated 1 like gene DOID:10283 prostate cancer ISO RGD:1313739 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305609 Shcbp1l SHC binding and spindle associated 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1313739 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305609 Shcbp1l SHC binding and spindle associated 1 like gene DOID:630 genetic disease ISO RGD:1313739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305609 Shcbp1l SHC binding and spindle associated 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313739 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1305609 Shcbp1l SHC binding and spindle associated 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313739 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305610 Sh3tc1 SH3 domain and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1313741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305610 Sh3tc1 SH3 domain and tetratricopeptide repeats 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1305612 Dus2 dihydrouridine synthase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1305612 Dus2 dihydrouridine synthase 2 gene DOID:630 genetic disease ISO RGD:1603040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305613 Spns1 sphingolipid transporter 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1602314 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1305613 Spns1 sphingolipid transporter 1 gene DOID:10316 pneumoconiosis ISO RGD:1602314 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1305613 Spns1 sphingolipid transporter 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1305613 Spns1 sphingolipid transporter 1 gene DOID:5419 schizophrenia ISO RGD:1602314 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305613 Spns1 sphingolipid transporter 1 gene DOID:630 genetic disease ISO RGD:1602314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305613 Spns1 sphingolipid transporter 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:0111546 Currarino syndrome ISO RGD:1606569 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1606569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:1606569 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1606569 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606569 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606569 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:17463246|PMID:17463248|PMID:17463249 1305614 Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1606569 D RGD:7240710 20230505 OMIM 1305615 Armc9 armadillo repeat containing 9 gene DOID:0050777 Joubert syndrome ISO RGD:1604597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 1305615 Armc9 armadillo repeat containing 9 gene DOID:0060476 Perlman syndrome ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1305615 Armc9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:7240710 20190315 OMIM 1305615 Armc9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 30 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:9536098 1305615 Armc9 armadillo repeat containing 9 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1305615 Armc9 armadillo repeat containing 9 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1604597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 1305615 Armc9 armadillo repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305615 Armc9 armadillo repeat containing 9 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1604597 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 1305616 Spag6 sperm associated antigen 6 gene DOID:630 genetic disease ISO RGD:1313749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305619 Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1313754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 1305619 Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:630 genetic disease ISO RGD:1313754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305619 Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 1305621 Usp20 ubiquitin specific peptidase 20 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305621 Usp20 ubiquitin specific peptidase 20 gene DOID:630 genetic disease ISO RGD:1313758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305622 Bod1 biorientation of chromosomes in cell division 1 gene DOID:1059 intellectual disability ISO RGD:1348370 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305622 Bod1 biorientation of chromosomes in cell division 1 gene DOID:630 genetic disease ISO RGD:1348370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:7240710 20190315 OMIM 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:2877793|PMID:28777931|PMID:35326425 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:1826 epilepsy ISO RGD:1313761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313761 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:3652 Leigh disease ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:2877793|PMID:28777931 1305623 Mrps34 mitochondrial ribosomal protein S34 gene DOID:630 genetic disease ISO RGD:1313761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305624 Palmd palmdelphin gene DOID:630 genetic disease ISO RGD:1313763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305624 Palmd palmdelphin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305625 Tmem123 transmembrane protein 123 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1305625 Tmem123 transmembrane protein 123 gene DOID:0080600 COVID-19 ISO RGD:1605596 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305625 Tmem123 transmembrane protein 123 gene DOID:1059 intellectual disability ISO RGD:1605596 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305625 Tmem123 transmembrane protein 123 gene DOID:12704 ataxia telangiectasia ISO RGD:1605596 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1305625 Tmem123 transmembrane protein 123 gene DOID:630 genetic disease ISO RGD:1605596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305626 Taf11 TATA-box binding protein associated factor 11 gene DOID:0050553 JMP syndrome ISO RGD:1313766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1305626 Taf11 TATA-box binding protein associated factor 11 gene DOID:630 genetic disease ISO RGD:1313766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305627 Rd3l RD3 like gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:5683670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1305629 Ctdsp1 CTD small phosphatase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313770 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1305629 Ctdsp1 CTD small phosphatase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1305629 Ctdsp1 CTD small phosphatase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1305629 Ctdsp1 CTD small phosphatase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1305629 Ctdsp1 CTD small phosphatase 1 gene DOID:630 genetic disease ISO RGD:1313770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305629 Ctdsp1 CTD small phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313770 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050817 Stargardt disease ISS RGD:1313773 D RGD:13592920 20180518 MouseDO OMIM:248200 | OMIM:600110 | OMIM:603786 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050952 spastic ataxia ISO RGD:1313772 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:7240710 20180425 OMIM 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 PMID:24566826|PMID:25741868|PMID:26010696|PMID:28492532|PMID:28559085|PMID:30065956|PMID:31105016|PMID:31692161|PMID:31750392|PMID:34623043|PMID:5048218 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:2566 corneal dystrophy ISO RGD:1313772 D RGD:1598895|PMID:11726641 20061220 RGD 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:630 genetic disease ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:8501 fundus dystrophy ISO RGD:1313772 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138005|PMID:15028284|PMID:23509295|PMID:24833735|PMID:28492532 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:7240710 20130221 OMIM 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:11138005|PMID:15028284|PMID:15557430|PMID:22948568|PMID:23509295|PMID:24833735|PMID:25326635|PMID:25741868|PMID:27116512|PMID:28492532|PMID:33546218|PMID:34073554 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:7240710 20140911 OMIM 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation PMID:11138005|PMID:22100072|PMID:23509295|PMID:24833735|PMID:25326635|PMID:25741868|PMID:28492532 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1313772 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant 1305630 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1313772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 1305631 Cox19 cytochrome c oxidase assembly factor COX19 gene DOID:630 genetic disease ISO RGD:1604553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305632 Ash2l ASH2 like histone lysine methyltransferase complex subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1305632 Ash2l ASH2 like histone lysine methyltransferase complex subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1305632 Ash2l ASH2 like histone lysine methyltransferase complex subunit gene DOID:5419 schizophrenia IEP D RGD:9586022|PMID:23932495 20140924 RGD 1305632 Ash2l ASH2 like histone lysine methyltransferase complex subunit gene DOID:607 paraplegia ISO RGD:1313775 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1305632 Ash2l ASH2 like histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305632 Ash2l ASH2 like histone lysine methyltransferase complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1313775 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:0110266 cataract 9 multiple types ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:12849 autistic disorder ISO RGD:1313777 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:630 genetic disease ISO RGD:1313777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313777 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:9263 homocystinuria ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1305633 Rrp1b ribosomal RNA processing 1B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305634 Ddx27 DEAD-box helicase 27 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1313779 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 1305634 Ddx27 DEAD-box helicase 27 gene DOID:630 genetic disease ISO RGD:1313779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305635 Il1f10 interleukin 1 family member 10 gene DOID:0080474 pustular psoriasis 14 ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:21848462|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 1305635 Il1f10 interleukin 1 family member 10 gene DOID:289 endometriosis ISO RGD:1313781 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 1305635 Il1f10 interleukin 1 family member 10 gene DOID:630 genetic disease ISO RGD:1313781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305635 Il1f10 interleukin 1 family member 10 gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 1305636 Zfp410 zinc finger protein 410 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1313783 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1305636 Zfp410 zinc finger protein 410 gene DOID:1059 intellectual disability ISO RGD:1313783 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1305636 Zfp410 zinc finger protein 410 gene DOID:630 genetic disease ISO RGD:1313783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305637 Stn1 STN1 subunit of CST complex gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1313785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 1305637 Stn1 STN1 subunit of CST complex gene DOID:1909 melanoma ISO RGD:1313785 D RGD:152995261|PMID:25231748 20220610 RGD DNA:SNP:cds:rs9420907|rs2995264 (human) 1305637 Stn1 STN1 subunit of CST complex gene DOID:4001 ovarian carcinoma ISO RGD:1313785 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28346442 1305637 Stn1 STN1 subunit of CST complex gene DOID:630 genetic disease ISO RGD:1313785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305637 Stn1 STN1 subunit of CST complex gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1313785 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1305637 Stn1 STN1 subunit of CST complex gene DOID:9005172 Lung Neoplasms ISO RGD:1313785 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 1305637 Stn1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:7240710 20190315 OMIM 1305637 Stn1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 PMID:25741868|PMID:27432940|PMID:28492532 1305638 Tmem50a transmembrane protein 50A gene DOID:630 genetic disease ISO RGD:1606813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305641 Adprhl1 ADP-ribosylhydrolase like 1 gene DOID:2222 factor X deficiency ISO RGD:1313790 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1305641 Adprhl1 ADP-ribosylhydrolase like 1 gene DOID:630 genetic disease ISO RGD:1313790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305642 Ormdl2 ORMDL sphingolipid biosynthesis regulator 2 gene DOID:630 genetic disease ISO RGD:1313791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305643 Ctnnd1 catenin delta 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1313793 D RGD:11526681|PMID:26464646 20190111 RGD 1305643 Ctnnd1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:7240710 20190315 OMIM 1305643 Ctnnd1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 PMID:25741868|PMID:28301459|PMID:29805042 1305643 Ctnnd1 catenin delta 1 gene DOID:0080600 COVID-19 ISO RGD:1313793 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305643 Ctnnd1 catenin delta 1 gene DOID:1059 intellectual disability ISO RGD:1313793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305643 Ctnnd1 catenin delta 1 gene DOID:630 genetic disease ISO RGD:1313793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305643 Ctnnd1 catenin delta 1 gene DOID:6432 pulmonary hypertension treatment IEP D RGD:38500244|PMID:25593290 20200924 RGD 1305643 Ctnnd1 catenin delta 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313793 D RGD:38500244|PMID:25593290 20200924 RGD protein:decreased expression:lung 1305643 Ctnnd1 catenin delta 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment IEP D RGD:38500244|PMID:25593290 20200924 RGD 1305643 Ctnnd1 catenin delta 1 gene DOID:9296 cleft lip ISO RGD:1313793 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:29805042 1305644 Ube2e2 ubiquitin-conjugating enzyme E2E 2 gene DOID:0050868 hepatocellular adenoma ISO RGD:1346022 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 1305644 Ube2e2 ubiquitin-conjugating enzyme E2E 2 gene DOID:630 genetic disease ISO RGD:1346022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305644 Ube2e2 ubiquitin-conjugating enzyme E2E 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346022 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 1305644 Ube2e2 ubiquitin-conjugating enzyme E2E 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346022 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 1305646 Chit1 chitinase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1305646 Chit1 chitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313797 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305646 Chit1 chitinase 1 gene DOID:1926 Gaucher's disease ISO RGD:1313797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17464953 1305646 Chit1 chitinase 1 gene DOID:630 genetic disease ISO RGD:1313797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305646 Chit1 chitinase 1 gene DOID:9004182 CHITOTRIOSIDASE DEFICIENCY ISO RGD:1313797 D RGD:7240710 20190315 OMIM 1305646 Chit1 chitinase 1 gene DOID:9004182 CHITOTRIOSIDASE DEFICIENCY ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chitotriosidase deficiency PMID:17464953|PMID:17693102|PMID:23430552|PMID:23430794|PMID:25741868|PMID:27111557|PMID:27153562|PMID:28492532|PMID:9748235 1305646 Chit1 chitinase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1305646 Chit1 chitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313797 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305647 Tmem62 transmembrane protein 62 gene DOID:2717 Bloom syndrome ISO RGD:1605041 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305647 Tmem62 transmembrane protein 62 gene DOID:630 genetic disease ISO RGD:1605041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305647 Tmem62 transmembrane protein 62 gene DOID:9256 colorectal cancer ISO RGD:1605041 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305648 Fbxo7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25029497 1305648 Fbxo7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:7240710 20131030 OMIM 1305648 Fbxo7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome PMID:17576681|PMID:18513678|PMID:19038853|PMID:20603184|PMID:21347293|PMID:23352116|PMID:23933751|PMID:24112787|PMID:25029497|PMID:25085748|PMID:25169713|PMID:25174650|PMID:25741868|PMID:26310625|PMID:26882974|PMID:27294386|PMID:27503909|PMID:28492532|PMID:30502028|PMID:9536098 1305648 Fbxo7 F-box protein 7 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 1305648 Fbxo7 F-box protein 7 gene DOID:14330 Parkinson's disease ISO RGD:1313800 D RGD:10450518|PMID:26223426 20160115 RGD 1305648 Fbxo7 F-box protein 7 gene DOID:14330 Parkinson's disease ISO RGD:1313800 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive 1305648 Fbxo7 F-box protein 7 gene DOID:630 genetic disease ISO RGD:1313800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305648 Fbxo7 F-box protein 7 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1313800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 1305649 Xkr8 XK related 8 gene DOID:630 genetic disease ISO RGD:1602706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305650 Mgat4a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:0080600 COVID-19 ISO RGD:1313803 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305650 Mgat4a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:1793 pancreatic cancer ISO RGD:1313803 D RGD:2317701|PMID:16434023 20100416 RGD 1305650 Mgat4a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:630 genetic disease ISO RGD:1313803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305651 Ccnq cyclin Q gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1305651 Ccnq cyclin Q gene DOID:0050476 Barth syndrome ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1305651 Ccnq cyclin Q gene DOID:0050800 creatine transporter deficiency ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1305651 Ccnq cyclin Q gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1305651 Ccnq cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:18297069 1305651 Ccnq cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:7240710 20130619 OMIM 1305651 Ccnq cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome PMID:18297069|PMID:25741868|PMID:8818947 1305651 Ccnq cyclin Q gene DOID:0112003 immunodeficiency 33 ISO RGD:1604257 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1305651 Ccnq cyclin Q gene DOID:10588 adrenoleukodystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1305651 Ccnq cyclin Q gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1305651 Ccnq cyclin Q gene DOID:1227 neutropenia ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 1305651 Ccnq cyclin Q gene DOID:12849 autistic disorder ISO RGD:1604257 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305651 Ccnq cyclin Q gene DOID:13628 favism ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1305651 Ccnq cyclin Q gene DOID:2729 dyskeratosis congenita ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1305651 Ccnq cyclin Q gene DOID:607 paraplegia ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1305651 Ccnq cyclin Q gene DOID:630 genetic disease ISO RGD:1604257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305651 Ccnq cyclin Q gene DOID:9002720 Splenomegaly ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1305652 Mkx mohawk homeobox gene DOID:630 genetic disease ISO RGD:1313806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305652 Mkx mohawk homeobox gene DOID:9003295 Heterotopic Ossification IMP D RGD:40924660|PMID:27370800 20210415 RGD compared to Wistar 1305653 Pear1 platelet endothelial aggregation receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1642918 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305653 Pear1 platelet endothelial aggregation receptor 1 gene DOID:630 genetic disease ISO RGD:1642918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305653 Pear1 platelet endothelial aggregation receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642918 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305654 Dctn5 dynactin subunit 5 gene DOID:630 genetic disease ISO RGD:1603378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305654 Dctn5 dynactin subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603378 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20852946|PMID:20927582 1305655 Actl7b actin-like 7b gene DOID:630 genetic disease ISO RGD:1313810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305656 Igfbpl1 insulin-like growth factor binding protein-like 1 gene DOID:630 genetic disease ISO RGD:1313812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305657 Ppp2r5e protein phosphatase 2 regulatory subunit B', epsilon gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155791663|PMID:30712471 20230104 RGD 1305657 Ppp2r5e protein phosphatase 2 regulatory subunit B', epsilon gene DOID:630 genetic disease ISO RGD:1313814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305657 Ppp2r5e protein phosphatase 2 regulatory subunit B', epsilon gene DOID:9003882 Chromosomal Instability ISO RGD:1313814 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25772433 1305657 Ppp2r5e protein phosphatase 2 regulatory subunit B', epsilon gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313814 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25772433 1305658 Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1313816 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:25741868 1305658 Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C gene DOID:12849 autistic disorder ISO RGD:1313816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 1305658 Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313816 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1305658 Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C gene DOID:630 genetic disease ISO RGD:1313816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305658 Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:19944400|PMID:19944405|PMID:24033266|PMID:28492532 1305660 Fbxl3 F-box and leucine-rich repeat protein 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1343078 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1305660 Fbxl3 F-box and leucine-rich repeat protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 1305660 Fbxl3 F-box and leucine-rich repeat protein 3 gene DOID:630 genetic disease ISO RGD:1343078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305660 Fbxl3 F-box and leucine-rich repeat protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532 1305660 Fbxl3 F-box and leucine-rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:7240710 20190424 OMIM 1305660 Fbxl3 F-box and leucine-rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations PMID:11477608|PMID:25741868|PMID:30481285 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0050777 Joubert syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:1826 epilepsy ISO RGD:1313822 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:3652 Leigh disease ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:630 genetic disease ISO RGD:1313822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305661 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1305662 Zfp143 zinc finger protein 143 gene DOID:630 genetic disease ISO RGD:1313824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305663 Rab40b Rab40b, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1313826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305663 Rab40b Rab40b, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305664 Arhgap44 Rho GTPase activating protein 44 gene DOID:630 genetic disease ISO RGD:1604841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305665 Scyl2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:7240710 20200318 OMIM 1305665 Scyl2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum PMID:25741868|PMID:31960134 1305665 Scyl2 SCY1 like pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1343640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305666 Unc45b unc-45 myosin chaperone B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1313830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1305666 Unc45b unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:7240710 20170301 OMIM 1305666 Unc45b unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 43 PMID:24549050|PMID:25741868 1305666 Unc45b unc-45 myosin chaperone B gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1313830 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 1305666 Unc45b unc-45 myosin chaperone B gene DOID:114 heart disease ISO RGD:1313830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 1305666 Unc45b unc-45 myosin chaperone B gene DOID:423 myopathy ISO RGD:1313830 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Myopathy PMID:31852522|PMID:33217308 1305666 Unc45b unc-45 myosin chaperone B gene DOID:630 genetic disease ISO RGD:1313830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587 1305666 Unc45b unc-45 myosin chaperone B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313830 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305666 Unc45b unc-45 myosin chaperone B gene DOID:9005246 Paralysis ISO RGD:1313830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 1305666 Unc45b unc-45 myosin chaperone B gene DOID:9007506 Myofibrillar Myopathy 11 ISO RGD:1313830 D RGD:7240710 20210303 OMIM 1305666 Unc45b unc-45 myosin chaperone B gene DOID:9007506 Myofibrillar Myopathy 11 ISO RGD:1313830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 11 PMID:25741868|PMID:31852522|PMID:33217308 1305666 Unc45b unc-45 myosin chaperone B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 1305667 Vsx1 visual system homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 1305667 Vsx1 visual system homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 1305667 Vsx1 visual system homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1313832 D RGD:8657036|PMID:16384943 20140528 RGD DNA:missense mutation:cds:p.H244R (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:10126 keratoconus ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11978762|PMID:15623752 1305667 Vsx1 visual system homeobox 1 gene DOID:10126 keratoconus ISO RGD:1313832 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23592923|PMID:24033266|PMID:28492532 1305667 Vsx1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11978762 1305667 Vsx1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:1599773|PMID:11978762 20070214 RGD KTCN1, OMIM:148300, PPCD1, OMIM:122000 1305667 Vsx1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:8657029|PMID:15051220 20140528 RGD associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1313832 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305667 Vsx1 visual system homeobox 1 gene DOID:3642 empty sella syndrome ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 1305667 Vsx1 visual system homeobox 1 gene DOID:5679 retinal disease ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 1305667 Vsx1 visual system homeobox 1 gene DOID:630 genetic disease ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305667 Vsx1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:7240710 20140911 OMIM 1305667 Vsx1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome PMID:11978762|PMID:15051220|PMID:16303937|PMID:21976959|PMID:25741868|PMID:28492532 1305667 Vsx1 visual system homeobox 1 gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:7240710 20130425 OMIM 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:21976959|PMID:22171159|PMID:25741868|PMID:28492532 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8657032|PMID:18626569 20140528 RGD DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8657034|PMID:15623752 20140528 RGD DNA:missense mutations:cds:multiple (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8657037|PMID:21976959 20140528 RGD DNA:missense mutation:cds:p.G239R (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:8657045|PMID:17960127 20140528 RGD DNA:missense mutation:cds:p.D144E (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:8657052|PMID:18216574 20140528 RGD DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human) 1305667 Vsx1 visual system homeobox 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 1305667 Vsx1 visual system homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 1305668 Paip1 poly(A) binding protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305668 Paip1 poly(A) binding protein interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313834 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305670 Lmo4 LIM domain only 4 gene DOID:0060668 anencephaly ISS RGD:1313838 D RGD:13592920 20180518 MouseDO OMIM:206500 1305670 Lmo4 LIM domain only 4 gene DOID:630 genetic disease ISO RGD:1313837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305671 Dip2b disco-interacting protein 2 homolog B gene DOID:0060041 autism spectrum disorder ISO RGD:1605978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305671 Dip2b disco-interacting protein 2 homolog B gene DOID:0070309 absence epilepsy ISO RGD:1605978 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 1305671 Dip2b disco-interacting protein 2 homolog B gene DOID:630 genetic disease ISO RGD:1605978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305671 Dip2b disco-interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:7240710 20130731 OMIM 1305671 Dip2b disco-interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:17236128|PMID:25741868 1305671 Dip2b disco-interacting protein 2 homolog B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605978 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 1305672 Spock3 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3 gene DOID:630 genetic disease ISO RGD:1313840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305674 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305674 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305674 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305674 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:630 genetic disease ISO RGD:1313843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305675 Mpp7 MAGUK p55 scaffold protein 7 gene DOID:303 substance-related disorder ISO RGD:1344792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305675 Mpp7 MAGUK p55 scaffold protein 7 gene DOID:630 genetic disease ISO RGD:1344792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305677 Tmem126a transmembrane protein 126A gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604272 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1305677 Tmem126a transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:7240710 20130221 OMIM 1305677 Tmem126a transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 PMID:19327736|PMID:20405026|PMID:22815638|PMID:25741868|PMID:28492532|PMID:30369941 1305677 Tmem126a transmembrane protein 126A gene DOID:1059 intellectual disability ISO RGD:1604272 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305677 Tmem126a transmembrane protein 126A gene DOID:630 genetic disease ISO RGD:1604272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305677 Tmem126a transmembrane protein 126A gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1604272 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Recessive 1305678 Cadm2 cell adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313847 D RGD:15092074|PMID:21996756 20200103 RGD 1305678 Cadm2 cell adhesion molecule 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313847 D RGD:19165125|PMID:30816549 20200131 RGD protein:decreased expression:brain 1305678 Cadm2 cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1313847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305678 Cadm2 cell adhesion molecule 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313847 D RGD:15092075|PMID:24240726 20200103 RGD mRNA, protein:decreased expression:liver 1305678 Cadm2 cell adhesion molecule 2 gene DOID:768 retinoblastoma ISO RGD:1313847 D RGD:15092072|PMID:30320366 20200102 RGD mRNA, protein:decreased expression:retina 1305678 Cadm2 cell adhesion molecule 2 gene DOID:8893 psoriasis ISO RGD:1313847 D RGD:15092073|PMID:21864505 20200103 RGD 1305678 Cadm2 cell adhesion molecule 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313847 D RGD:15092076|PMID:28401323 20200103 RGD DNA:SNP: :rs13078807 (human) 1305678 Cadm2 cell adhesion molecule 2 gene DOID:9970 obesity ISO RGD:1313847 D RGD:15092077|PMID:31341224 20200103 RGD DNA:SNP: :rs13078807 (human) 1305679 Adtrp androgen-dependent TFPI-regulating protein gene DOID:3393 coronary artery disease ISO RGD:1313849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378986 1305679 Adtrp androgen-dependent TFPI-regulating protein gene DOID:630 genetic disease ISO RGD:1313849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305680 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:0050444 infantile Refsum disease ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1305680 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305680 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:10283 prostate cancer ISO RGD:1313851 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305680 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1313851 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305680 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:905 Zellweger syndrome ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1305683 Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313857 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1305683 Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein gene DOID:1059 intellectual disability ISO RGD:1313857 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305683 Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein gene DOID:1240 leukemia ISO RGD:1313857 D RGD:11554173 20170613 CTD CTD Direct Evidence: therapeutic PMID:28436985 1305683 Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein gene DOID:630 genetic disease ISO RGD:1313857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305684 Pcmtd2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1313858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305685 Naa25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit gene DOID:630 genetic disease ISO RGD:1605042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305687 Rnasek ribonuclease K gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604138 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305687 Rnasek ribonuclease K gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604138 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1305687 Rnasek ribonuclease K gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1305687 Rnasek ribonuclease K gene DOID:12177 common variable immunodeficiency ISO RGD:1604138 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305687 Rnasek ribonuclease K gene DOID:2729 dyskeratosis congenita ISO RGD:1604138 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1305687 Rnasek ribonuclease K gene DOID:630 genetic disease ISO RGD:1604138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305688 Rhpn1 rhophilin, Rho GTPase binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1305688 Rhpn1 rhophilin, Rho GTPase binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1305688 Rhpn1 rhophilin, Rho GTPase binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1305688 Rhpn1 rhophilin, Rho GTPase binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1313863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1305688 Rhpn1 rhophilin, Rho GTPase binding protein 1 gene DOID:630 genetic disease ISO RGD:1313863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305689 Tmem254 transmembrane protein 254 gene DOID:630 genetic disease ISO RGD:1313865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305689 Tmem254 transmembrane protein 254 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313865 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305692 Sarnp SAP domain containing ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1603945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305693 Abhd8 abhydrolase domain containing 8 gene DOID:630 genetic disease ISO RGD:1313870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305694 Mrpl54 mitochondrial ribosomal protein L54 gene DOID:13938 amenorrhea ISO RGD:1313872 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305694 Mrpl54 mitochondrial ribosomal protein L54 gene DOID:630 genetic disease ISO RGD:1313872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305695 Lsm14a LSM14A mRNA processing body assembly factor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1305695 Lsm14a LSM14A mRNA processing body assembly factor gene DOID:630 genetic disease ISO RGD:1313874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305697 Hepacam2 HEPACAM family member 2 gene DOID:10283 prostate cancer ISO RGD:1602173 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305697 Hepacam2 HEPACAM family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602173 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305697 Hepacam2 HEPACAM family member 2 gene DOID:630 genetic disease ISO RGD:1602173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0050439 Usher syndrome ISO RGD:1313879 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1313879 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:1540 parathyroid carcinoma ISO RGD:1313879 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1313879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:25741868 1305698 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313879 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1313881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1313881 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1313881 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1313881 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1313881 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:630 genetic disease ISO RGD:1313881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:8398 osteoarthritis ISO RGD:1313881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1305699 P3h3 prolyl 3-hydroxylase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313881 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1305700 Catsper3 cation channel, sperm associated 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305700 Catsper3 cation channel, sperm associated 3 gene DOID:630 genetic disease ISO RGD:1313883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305700 Catsper3 cation channel, sperm associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313883 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305700 Catsper3 cation channel, sperm associated 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305702 Tbx5 T-box transcription factor 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1313887 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1313887 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15735645 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:7240710 20130221 OMIM 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:7327217|PMID:20519243 20130917 RGD DNA:missense mutations, deletion:cds:multiple 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:7327219|PMID:18451335 20130917 RGD DNA:missense mutation:cds:p.G125R (human) 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:10077612|PMID:10077762|PMID:10842287|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12624158|PMID:12789647|PMID:12818525|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16380715|PMID:16917909|PMID:17534187|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21637475|PMID:21897873|PMID:22333898|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25623069|PMID:25680289|PMID:25741868|PMID:25931334|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:26938784|PMID:28492532|PMID:28855715|PMID:29755943|PMID:30552424|PMID:31215120|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165 1305702 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313888 D RGD:1578428|PMID:11572777 20130917 RGD 1305702 Tbx5 T-box transcription factor 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:10077612|PMID:10077762|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16332960|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21637475|PMID:21897873|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25500235|PMID:25623069|PMID:25640679|PMID:25680289|PMID:25741868|PMID:25931334|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:28492532|PMID:28855715|PMID:30538526|PMID:30552424|PMID:31215120|PMID:31983221|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165|PMID:9536098 1305702 Tbx5 T-box transcription factor 5 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1313887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 1305702 Tbx5 T-box transcription factor 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313887 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17534187|PMID:25741868|PMID:28492532 1305702 Tbx5 T-box transcription factor 5 gene DOID:13620 patent foramen ovale ISO RGD:1313887 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:25741868|PMID:29555671 1305702 Tbx5 T-box transcription factor 5 gene DOID:1682 congenital heart disease ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10077612|PMID:10077762|PMID:12499378|PMID:12789647|PMID:16380715|PMID:20519243|PMID:25216260|PMID:25931334|PMID:28492532|PMID:34917776 1305702 Tbx5 T-box transcription factor 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1313887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 1305702 Tbx5 T-box transcription factor 5 gene DOID:5844 myocardial infarction treatment IMP D RGD:7327215|PMID:23948075 20130917 RGD 1305702 Tbx5 T-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1313887 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077612|PMID:12789647|PMID:14402857|PMID:15710732|PMID:16183809|PMID:16917909|PMID:17534187|PMID:2070544|PMID:25680289|PMID:25741868|PMID:28492532|PMID:8911604|PMID:8988164 1305702 Tbx5 T-box transcription factor 5 gene DOID:9003748 Thumb Deformity ISO RGD:1313887 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Thumb deformity 1305703 Tmem38b transmembrane protein 38B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1347417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 1305703 Tmem38b transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:7240710 20171011 OMIM 1305703 Tmem38b transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 PMID:17611541|PMID:23054245|PMID:25741868|PMID:26911354|PMID:28492532 1305703 Tmem38b transmembrane protein 38B gene DOID:12347 osteogenesis imperfecta ISO RGD:1347417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24835313|PMID:25741868|PMID:27441836|PMID:28492532|PMID:32123938 1305703 Tmem38b transmembrane protein 38B gene DOID:630 genetic disease ISO RGD:1347417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305703 Tmem38b transmembrane protein 38B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347417 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1305705 Otx2 orthodenticle homeobox 2 gene DOID:0050902 medulloblastoma ISO RGD:1313892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1305705 Otx2 orthodenticle homeobox 2 gene DOID:0080636 syndromic microphthalmia ISO RGD:1313892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 1305705 Otx2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:7240710 20150624 OMIM 1305705 Otx2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5 PMID:15846561|PMID:16607563|PMID:17541950|PMID:18628516|PMID:18781617|PMID:19956411|PMID:19965921|PMID:20396904|PMID:20486942|PMID:22577225|PMID:22715480|PMID:24033328|PMID:24167467|PMID:24498598|PMID:25293953|PMID:25326635|PMID:25741868|PMID:27299576|PMID:28492532|PMID:28518168|PMID:30268123|PMID:32461654|PMID:32796691|PMID:33296094 1305705 Otx2 orthodenticle homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1313892 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 1305705 Otx2 orthodenticle homeobox 2 gene DOID:10907 microcephaly ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19965921|PMID:25741868|PMID:28492532 1305705 Otx2 orthodenticle homeobox 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313892 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 1305705 Otx2 orthodenticle homeobox 2 gene DOID:630 genetic disease ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15846561|PMID:16607563|PMID:28492532|PMID:28518168|PMID:32461654 1305705 Otx2 orthodenticle homeobox 2 gene DOID:8501 fundus dystrophy ISO RGD:1313892 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17541950|PMID:28492532 1305705 Otx2 orthodenticle homeobox 2 gene DOID:9000066 Jaw Abnormalities ISO RGD:1313892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12183386 1305705 Otx2 orthodenticle homeobox 2 gene DOID:9002049 Anophthalmia ISO RGD:1313892 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:29178648 1305705 Otx2 orthodenticle homeobox 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20573704 1305705 Otx2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:7240710 20150624 OMIM 1305705 Otx2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6 PMID:17541950|PMID:18728160|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 1305705 Otx2 orthodenticle homeobox 2 gene DOID:9410 panhypopituitarism ISO RGD:1313892 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 1305706 H1f1 H1.1 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1313894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305707 Caprin1 cell cycle associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305707 Caprin1 cell cycle associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1313896 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305707 Caprin1 cell cycle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305711 Foxn3 forkhead box N3 gene DOID:630 genetic disease ISO RGD:1313904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305712 Etf1 eukaryotic translation termination factor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1305712 Etf1 eukaryotic translation termination factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305712 Etf1 eukaryotic translation termination factor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1313906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1305712 Etf1 eukaryotic translation termination factor 1 gene DOID:630 genetic disease ISO RGD:1313906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305712 Etf1 eukaryotic translation termination factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313906 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305712 Etf1 eukaryotic translation termination factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305713 C1h15orf40 similar to human chromosome 15 open reading frame 40 gene DOID:13938 amenorrhea ISO RGD:1604247 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1305713 C1h15orf40 similar to human chromosome 15 open reading frame 40 gene DOID:2717 Bloom syndrome ISO RGD:1604247 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305713 C1h15orf40 similar to human chromosome 15 open reading frame 40 gene DOID:630 genetic disease ISO RGD:1604247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305713 C1h15orf40 similar to human chromosome 15 open reading frame 40 gene DOID:9256 colorectal cancer ISO RGD:1604247 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305714 Tspan14 tetraspanin 14 gene DOID:10652 Alzheimer's disease ISO RGD:1342494 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 1305714 Tspan14 tetraspanin 14 gene DOID:630 genetic disease ISO RGD:1342494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305715 Zswim1 zinc finger, SWIM-type containing 1 gene DOID:2234 focal epilepsy ISO RGD:1313910 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305715 Zswim1 zinc finger, SWIM-type containing 1 gene DOID:630 genetic disease ISO RGD:1313910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305715 Zswim1 zinc finger, SWIM-type containing 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1305716 Hat1 histone acetyltransferase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313912 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1305716 Hat1 histone acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305716 Hat1 histone acetyltransferase 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2316578|PMID:17182829 20100217 RGD protein:increased expression:liver 1305718 Plekho2 pleckstrin homology domain containing O2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1601963 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1305718 Plekho2 pleckstrin homology domain containing O2 gene DOID:2717 Bloom syndrome ISO RGD:1601963 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305718 Plekho2 pleckstrin homology domain containing O2 gene DOID:630 genetic disease ISO RGD:1601963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305718 Plekho2 pleckstrin homology domain containing O2 gene DOID:9256 colorectal cancer ISO RGD:1601963 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305719 Nat8l N-acetyltransferase 8-like gene DOID:10907 microcephaly ISO RGD:1602409 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1305719 Nat8l N-acetyltransferase 8-like gene DOID:1856 cherubism ISO RGD:1602409 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1305719 Nat8l N-acetyltransferase 8-like gene DOID:630 genetic disease ISO RGD:1602409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305719 Nat8l N-acetyltransferase 8-like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:7240710 20140911 OMIM 1305719 Nat8l N-acetyltransferase 8-like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: N-acetylaspartate deficiency PMID:19807691 1305721 L3hypdh trans-L-3-hydroxyproline dehydratase gene DOID:630 genetic disease ISO RGD:1313918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305721 L3hypdh trans-L-3-hydroxyproline dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305724 Fbxl4 F-box and leucine-rich repeat protein 4 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1313923 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:23993193|PMID:24033266|PMID:25741868|PMID:27099744|PMID:27290639|PMID:30771478|PMID:30804983 1305724 Fbxl4 F-box and leucine-rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:7240710 20140911 OMIM 1305724 Fbxl4 F-box and leucine-rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) PMID:16199547|PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27182039|PMID:27182309|PMID:27290639|PMID:27743463|PMID:27858371|PMID:28327206|PMID:28492532|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31474762|PMID:32348839|PMID:32576985 1305724 Fbxl4 F-box and leucine-rich repeat protein 4 gene DOID:3652 Leigh disease ISO RGD:1313923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983 1305724 Fbxl4 F-box and leucine-rich repeat protein 4 gene DOID:630 genetic disease ISO RGD:1313923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27290639|PMID:27743463|PMID:28492532|PMID:28940506|PMID:29565416|PMID:30771478|PMID:30804983|PMID:32576985 1305724 Fbxl4 F-box and leucine-rich repeat protein 4 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313923 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983 1305725 Vstm2l V-set and transmembrane domain containing 2 like gene DOID:2234 focal epilepsy ISO RGD:1313925 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305725 Vstm2l V-set and transmembrane domain containing 2 like gene DOID:630 genetic disease ISO RGD:1313925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305726 Tubgcp3 tubulin, gamma complex associated protein 3 gene DOID:2222 factor X deficiency ISO RGD:1313927 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1305726 Tubgcp3 tubulin, gamma complex associated protein 3 gene DOID:630 genetic disease ISO RGD:1313927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305727 Nop16 NOP16 nucleolar protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1305727 Nop16 NOP16 nucleolar protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1305727 Nop16 NOP16 nucleolar protein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1605076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1305727 Nop16 NOP16 nucleolar protein gene DOID:630 genetic disease ISO RGD:1605076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305727 Nop16 NOP16 nucleolar protein gene DOID:9007188 Liver Neoplasms ISO RGD:1605076 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1305728 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1305728 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1305728 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1313930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305728 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313930 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305729 Lrp8 LDL receptor related protein 8 gene DOID:0060903 thrombosis ISO RGD:1313933 D RGD:6483062|PMID:21119114 20120511 RGD associated with Antiphospholipid Syndrome 1305729 Lrp8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease ISO RGD:1313932 D RGD:6483064|PMID:12399018 20120511 RGD DNA:polymorphism:exon:2622T>C (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1313932 D RGD:6483065|PMID:20208369 20120511 RGD DNA:polymorphisms: :multiple 1305729 Lrp8 LDL receptor related protein 8 gene DOID:1307 dementia ISO RGD:1313932 D RGD:6483063|PMID:17614163 20120511 RGD DNA:mutation: :p.R952Q (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease no_association ISO RGD:1313932 D RGD:2306125|PMID:18592168 20090320 RGD DNA:missense mutation:cds:p.R952Q (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease onset ISO RGD:1313932 D RGD:2306124|PMID:17847002 20090320 RGD DNA:missense mutation:cds:p.R952Q (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:5419 schizophrenia ISO RGD:1313932 D RGD:6483059|PMID:22419519 20120511 RGD DNA:SNP, missense mutation:exon, cds: (rs2297660, rs3737983) (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction ISO RGD:1313932 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1305729 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction ISO RGD:1313932 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:17847002 1305729 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction no_association ISO RGD:1313932 D RGD:2306125|PMID:18592168 20090320 RGD DNA:missense mutation:cds:p.R952Q (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction onset ISO RGD:1313932 D RGD:2306124|PMID:17847002 20090320 RGD DNA:missense mutation:cds:p.R952Q (human) 1305729 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1313932 D RGD:7240710 20190502 OMIM 1305729 Lrp8 LDL receptor related protein 8 gene DOID:630 genetic disease ISO RGD:1313932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305729 Lrp8 LDL receptor related protein 8 gene DOID:9002955 Nerve Degeneration ISO RGD:1313932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 1305730 Atxn7l1 ataxin 7-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345348 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305730 Atxn7l1 ataxin 7-like 1 gene DOID:630 genetic disease ISO RGD:1345348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305731 Phf12 PHD finger protein 12 gene DOID:630 genetic disease ISO RGD:1313935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305731 Phf12 PHD finger protein 12 gene DOID:9008582 Developmental Disease ISO RGD:1313935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1305732 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1605713 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 1305732 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1605713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 1305732 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1605713 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 1305732 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:630 genetic disease ISO RGD:1605713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305732 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605713 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 1305733 Bmerb1 bMERB domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1345550 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305733 Bmerb1 bMERB domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345550 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305733 Bmerb1 bMERB domain containing 1 gene DOID:1826 epilepsy ISO RGD:1345550 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305733 Bmerb1 bMERB domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1345550 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305733 Bmerb1 bMERB domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:1345550 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1305733 Bmerb1 bMERB domain containing 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1345550 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 1305733 Bmerb1 bMERB domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1345550 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313940 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313940 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:630 genetic disease ISO RGD:1313940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313940 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1305734 Ilf2 interleukin enhancer binding factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313940 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305735 Grhl1 grainyhead-like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1313942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305739 Adam23 ADAM metallopeptidase domain 23 gene DOID:14557 primary pulmonary hypertension ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1305739 Adam23 ADAM metallopeptidase domain 23 gene DOID:630 genetic disease ISO RGD:1313949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305739 Adam23 ADAM metallopeptidase domain 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313949 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305740 Cybrd1 cytochrome b reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1313951 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305740 Cybrd1 cytochrome b reductase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313951 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1305740 Cybrd1 cytochrome b reductase 1 gene DOID:630 genetic disease ISO RGD:1313951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305741 Yeats4 YEATS domain containing 4 gene DOID:3070 high grade glioma IEP D RGD:1598696|PMID:11521196 20061213 RGD 1305741 Yeats4 YEATS domain containing 4 gene DOID:3382 liposarcoma ISO RGD:1353043 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20601955 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1313955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gower's muscular dystrophy PMID:25741868|PMID:28492532|PMID:28817800|PMID:31996268 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:224 transient cerebral ischemia IEP D RGD:10059581|PMID:16055272 20150819 RGD 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:630 genetic disease ISO RGD:1313955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:9004406 Amyotrophic Lateral Sclerosis Type 26 ISO RGD:1313955 D RGD:7240710 20210113 OMIM 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:9004406 Amyotrophic Lateral Sclerosis Type 26 ISO RGD:1313955 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia PMID:28817800 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:7240710 20130731 OMIM 1305742 Tia1 TIA1 cytotoxic granule-associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Welander distal myopathy PMID:10482271|PMID:16199547|PMID:17576681|PMID:23348830|PMID:23401021|PMID:25741868|PMID:26467025|PMID:26627873|PMID:27282841|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:31996268|PMID:9536098 1305744 Tcte1 t-complex-associated testis expressed 1 gene DOID:12336 male infertility ISS RGD:1313959 D RGD:13592920 20180518 MouseDO 1305744 Tcte1 t-complex-associated testis expressed 1 gene DOID:630 genetic disease ISO RGD:1604203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305745 Stac SH3 and cysteine rich domain gene DOID:3042 allergic contact dermatitis ISO RGD:1313960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1305745 Stac SH3 and cysteine rich domain gene DOID:630 genetic disease ISO RGD:1313960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305746 Dpep2 dipeptidase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1313962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1305746 Dpep2 dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1313962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:0080158 herpes simplex virus keratitis susceptibility ISO RGD:1313965 D RGD:8661706|PMID:17266445 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:0080162 lupus nephritis ISO RGD:1313965 D RGD:6893449|PMID:20980973 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:0080745 polymyositis susceptibility ISO RGD:1313964 D RGD:8661720|PMID:24632671 20140612 RGD DNA:SNP:intron: (rs7582694) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:22651901|PMID:28492532 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:10223 dermatomyositis ISO RGD:1313964 D RGD:8661693|PMID:22402141 20140612 RGD DNA:SNP: :rs7574865 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:1313964 D RGD:25671415|PMID:24648611 20200427 RGD DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:25671415|PMID:24648611 20200427 RGD DNA:SNPs, haplotypes:multiple 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:25671416|PMID:28395724 20200427 RGD DNA:SNP: intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:25671421|PMID:26084578 20200427 RGD associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313964 D RGD:8661713|PMID:20438790 20140612 RGD DNA:SNP: :rs7574865 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12361 Graves' disease ISO RGD:1313965 D RGD:7207875|PMID:16195404 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1313964 D RGD:8661709|PMID:20360187 20140612 RGD DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:8661690|PMID:20535138 20140612 RGD DNA:SNP:intron: (rs7582694) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:8661708|PMID:18273036 20140612 RGD DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:8661713|PMID:20438790 20140612 RGD DNA:SNP: :rs7574865 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:8661718|PMID:23001997 20140612 RGD DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma no_association ISO RGD:1313964 D RGD:8661701|PMID:23755762 20140612 RGD DNA:SNPs:introns: (rs10168266, rs3821236) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma susceptibility ISO RGD:1313964 D RGD:8661701|PMID:23755762 20190726 RGD DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma susceptibility ISO RGD:1313964 D RGD:8661714|PMID:19286670 20140612 RGD DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:8661701|PMID:23755762 20140612 RGD DNA:SNP:intron: (rs3821236) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:8661714|PMID:19286670 20140612 RGD DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1313964 D RGD:8661701|PMID:23755762 20140612 RGD DNA:SNP:introns: (rs7574865, rs10168266) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1884 viral hepatitis susceptibility ISO RGD:1313964 D RGD:25671417|PMID:24731448 20200427 RGD protein:increased phosphorylation:liver, inflammatory cell (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1313964 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNP:intron: (rs3024861) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2043 hepatitis B ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1313964 D RGD:25671419|PMID:28977835 20200427 RGD DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2377 multiple sclerosis ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2841 asthma ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2841 asthma treatment IEP D RGD:2317290|PMID:18211752 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1313964 D RGD:7207872|PMID:20045654 20130212 RGD DNA:SNP: :rs7561832 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:1313964 D RGD:7207878|PMID:20479942 20130212 RGD DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:8661725|PMID:24321062 20140612 RGD protein:increased expression:lung 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:8661700|PMID:19644887 20140612 RGD DNA:SNP:intron: (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:8661711|PMID:19950257 20140612 RGD DNA:SNP:intron: (rs11889341) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:630 genetic disease ISO RGD:1313964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:23242368 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313964 D RGD:9068941 20220812 RGD Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human) PMID:26745093|REF_RGD_ID:11553302 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:8541 Sezary's disease ISO RGD:1313964 D RGD:8661723|PMID:16403914 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:869 cholesteatoma ISO RGD:1313964 D RGD:8661722|PMID:24321752 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes severity ISO RGD:1313964 D RGD:8661697|PMID:22718836 20140612 RGD DNA:SNPs, haplotype: :multiple 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes treatment ISO RGD:1313964 D RGD:8661697|PMID:22718836 20140612 RGD DNA:SNP:intron:rs7572482 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:8893 psoriasis susceptibility ISO RGD:1313964 D RGD:8661715|PMID:19500629 20140612 RGD DNA:SNP:intron:IVS3 (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9002174 Disease Susceptibility ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9002514 Neointima treatment IDA D RGD:5509614|PMID:16118253 20140612 RGD associated with Carotid Artery Injuries 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:7207888|PMID:11240014 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:1313965 D RGD:8661706|PMID:17266445 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9004283 Transplant Rejection ISO RGD:1313964 D RGD:7207871|PMID:21237270 20130212 RGD DNA:SNP: :rs7574865 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313964 D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9004484 Sepsis ISO RGD:1313965 D RGD:7207876|PMID:11257135 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9004874 Dermal Fibrosis ISO RGD:1313965 D RGD:8661691|PMID:21360510 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9005005 Oral Ulcer ISO RGD:1313964 D RGD:5147916|PMID:21719445 20140612 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1313965 D RGD:7207889|PMID:10553062 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:7207884|PMID:18296740 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9007356 Eczema ISO RGD:1313964 D RGD:6893665|PMID:22192168 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313965 D RGD:25671422|PMID:23876342 20200427 RGD mRNA:increased expression:liver, macrophage (mouse) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1313965 D RGD:25671417|PMID:24731448 20200427 RGD protein:increased phosphorylation:liver, inflammatory cell (mouse) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9008 psoriatic arthritis ISO RGD:1313964 D RGD:8661724|PMID:22328738 20140612 RGD DNA:SNP: :rs10181656 (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1313964 D RGD:25671420|PMID:25829184 20200427 RGD DNA:SNPs, haplotypes:multiple 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:11554173 20220816 CTD CTD Direct Evidence: marker/mechanism PMID:18204446|PMID:19838193 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:7207869|PMID:22729903 20130212 RGD DNA:SNP:intron:c.274-29069G>C (rs7582694) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:7207878|PMID:20479942 20130212 RGD DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:7207879|PMID:18803832 20130212 RGD DNA:SNPs:introns:c.274-23582A>C, c.274-2691G>A, c.466-1307G>A (rs7574865, rs11889341, rs10168266) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:7207881|PMID:18516230 20130212 RGD DNA:SNPs:intron:multiple (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11 PMID:17804842|PMID:19109131|PMID:19838193|PMID:19838195|PMID:25741868 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313965 D RGD:7207867|PMID:22798666 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus onset ISO RGD:1313964 D RGD:7207877|PMID:23049788 20130212 RGD DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1313964 D RGD:7240710 20220817 OMIM 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1313965 D RGD:7207874|PMID:16920939 20130212 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1313965 D RGD:8661703|PMID:10458767 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9146 visceral leishmaniasis ISO RGD:1313965 D RGD:8661696|PMID:24242758 20140612 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9452 fatty liver disease ISO RGD:1313965 D RGD:25671424|PMID:16799967 20200427 RGD 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9744 type 1 diabetes mellitus ISS RGD:1313965 D RGD:13592920 20180518 MouseDO OMIM:222100 1305747 Stat4 signal transducer and activator of transcription 4 gene DOID:9970 obesity treatment IDA D RGD:5509594|PMID:20978234 20130212 RGD 1305749 Tmem86a transmembrane protein 86A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 1305749 Tmem86a transmembrane protein 86A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601825 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1305749 Tmem86a transmembrane protein 86A gene DOID:1059 intellectual disability ISO RGD:1601825 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305749 Tmem86a transmembrane protein 86A gene DOID:630 genetic disease ISO RGD:1601825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305750 Zdhhc21 zinc finger DHHC-type palmitoyltransferase 21 gene DOID:630 genetic disease ISO RGD:1313969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305751 Mfsd1 major facilitator superfamily domain containing 1 gene DOID:630 genetic disease ISO RGD:1346472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305752 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1313972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1305752 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1313972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1305752 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1313972 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1305752 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:630 genetic disease ISO RGD:1313972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305753 Zkscan3 zinc finger with KRAB and SCAN domains 3 gene DOID:11372 megacolon ISO RGD:1313974 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1305753 Zkscan3 zinc finger with KRAB and SCAN domains 3 gene DOID:630 genetic disease ISO RGD:1313974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305753 Zkscan3 zinc finger with KRAB and SCAN domains 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519692 1305754 Ttpal alpha tocopherol transfer protein like gene DOID:2234 focal epilepsy ISO RGD:1313976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305754 Ttpal alpha tocopherol transfer protein like gene DOID:630 genetic disease ISO RGD:1313976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305754 Ttpal alpha tocopherol transfer protein like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1305755 Zdhhc20 zinc finger DHHC-type palmitoyltransferase 20 gene DOID:630 genetic disease ISO RGD:1606124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305756 Tymp thymidine phosphorylase gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:0060041 autism spectrum disorder ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1305756 Tymp thymidine phosphorylase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1313979 D RGD:2293726|PMID:9306962 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313979 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1305756 Tymp thymidine phosphorylase gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1313979 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:16972839|PMID:22977166 1305756 Tymp thymidine phosphorylase gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1313979 D RGD:7240710 20130619 OMIM 1305756 Tymp thymidine phosphorylase gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1313979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:10852545|PMID:12084896|PMID:12177387|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15505189|PMID:15742109|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17294068|PMID:17437622|PMID:17576681|PMID:18280229|PMID:19056268|PMID:19344718|PMID:19748572|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21412940|PMID:21794876|PMID:21820356|PMID:21933806|PMID:22618301|PMID:23341816|PMID:23430799|PMID:23590577|PMID:23643385|PMID:23685548|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27261974|PMID:28492532|PMID:30487145|PMID:31885962|PMID:32849836|PMID:33300680|PMID:9536098|PMID:9924029 1305756 Tymp thymidine phosphorylase gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17576681|PMID:19056268|PMID:19344718|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:23341816|PMID:23430799|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 1305756 Tymp thymidine phosphorylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313979 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1305756 Tymp thymidine phosphorylase gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313979 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1305756 Tymp thymidine phosphorylase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1313979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1305756 Tymp thymidine phosphorylase gene DOID:1059 intellectual disability ISO RGD:1313979 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305756 Tymp thymidine phosphorylase gene DOID:11054 urinary bladder cancer ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11103787|PMID:15841086 1305756 Tymp thymidine phosphorylase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1313979 D RGD:2293716|PMID:16937303 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:12377 spinal muscular atrophy ISO RGD:1313979 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:1380 endometrial cancer ISO RGD:1313979 D RGD:2293715|PMID:18348659 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17443278 1305756 Tymp thymidine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1313979 D RGD:2325156|PMID:19671868 20100521 RGD 1305756 Tymp thymidine phosphorylase gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313979 D RGD:2293721|PMID:15628771 20080611 RGD protein:increased expression:ovary 1305756 Tymp thymidine phosphorylase gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313979 D RGD:2293722|PMID:15262124 20080611 RGD protein:increased expression:ovary, serum 1305756 Tymp thymidine phosphorylase gene DOID:2671 transitional cell carcinoma ISO RGD:1313979 D RGD:2293720|PMID:15841086 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:305 carcinoma ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11103787|PMID:12565868 1305756 Tymp thymidine phosphorylase gene DOID:3307 teratoma ISO RGD:1313979 D RGD:2293724|PMID:10886088 20080611 RGD protein:increased expression:testis 1305756 Tymp thymidine phosphorylase gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1313979 D RGD:2325155|PMID:19760965 20100521 RGD 1305756 Tymp thymidine phosphorylase gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1313979 D RGD:2293719|PMID:16803522 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1313979 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:11641616 1305756 Tymp thymidine phosphorylase gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313979 D RGD:2325156|PMID:19671868 20100521 RGD 1305756 Tymp thymidine phosphorylase gene DOID:4440 seminoma ISO RGD:1313979 D RGD:2293724|PMID:10886088 20080611 RGD protein:increased expression:testis 1305756 Tymp thymidine phosphorylase gene DOID:4450 renal cell carcinoma ISO RGD:1313979 D RGD:2293717|PMID:16861722 20080611 RGD protein:increased expression:kidney 1305756 Tymp thymidine phosphorylase gene DOID:4450 renal cell carcinoma severity ISO RGD:1313979 D RGD:2293723|PMID:12614261 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:1313979 D RGD:2325158|PMID:10760693 20100521 RGD 1305756 Tymp thymidine phosphorylase gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1313979 D RGD:2325157|PMID:18946757 20100521 RGD 1305756 Tymp thymidine phosphorylase gene DOID:630 genetic disease ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:28492532|PMID:9536098|PMID:9924029 1305756 Tymp thymidine phosphorylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313979 D RGD:1601000|PMID:9924029 20070403 RGD mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A 1305756 Tymp thymidine phosphorylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313979 D RGD:2293725|PMID:10685502 20080611 RGD associated with Breast Neoplasms 1305756 Tymp thymidine phosphorylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313979 D RGD:2325027|PMID:11927969 20100521 RGD associated with Cholangiocarcinoma 1305756 Tymp thymidine phosphorylase gene DOID:9000217 Stomach Neoplasms ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 1305756 Tymp thymidine phosphorylase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11103787 1305756 Tymp thymidine phosphorylase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313979 D RGD:2293714|PMID:18441329 20080611 RGD associated with Breast Neoplasms 1305756 Tymp thymidine phosphorylase gene DOID:9001044 Choroidal Neovascularization IEP D RGD:2293727|PMID:12556409 20080611 RGD 1305756 Tymp thymidine phosphorylase gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: Myoneurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17576681|PMID:19056268|PMID:19344718|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:23341816|PMID:23430799|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 1305756 Tymp thymidine phosphorylase gene DOID:9002928 Colonic Neoplasms ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 1305756 Tymp thymidine phosphorylase gene DOID:9004853 Myopia 6 ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 PMID:25741868|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 1305756 Tymp thymidine phosphorylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15706408|PMID:17047489 1305756 Tymp thymidine phosphorylase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1313979 D RGD:2293718|PMID:16854285 20080611 RGD 1305757 Zfp112 zinc finger protein 112 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1313981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1305757 Zfp112 zinc finger protein 112 gene DOID:630 genetic disease ISO RGD:1313981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305759 Pxn paxillin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21159652 1305759 Pxn paxillin gene DOID:630 genetic disease ISO RGD:1313984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305759 Pxn paxillin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 1305759 Pxn paxillin gene DOID:9004118 Experimental Melanoma ISO RGD:1313984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 1305759 Pxn paxillin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313984 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:1599878|PMID:8298653 20070220 RGD 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:7246919|PMID:22824526 20130626 RGD 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10766188|PMID:11511294|PMID:15654957|PMID:16081512|PMID:16550608|PMID:17079196|PMID:17084680|PMID:18414213|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26884178|PMID:27153395|PMID:27387384|PMID:28492532|PMID:28615033|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1313986 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0060417 3p deletion syndrome ISO RGD:1313986 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1313986 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:26227012 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:7240710 20130425 OMIM 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:10766188|PMID:11511294|PMID:12177305|PMID:12509233|PMID:14662655|PMID:16081512|PMID:16199547|PMID:16550608|PMID:17079196|PMID:17084680|PMID:17119055|PMID:17576681|PMID:18414213|PMID:18478970|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:23984341|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26278556|PMID:26884178|PMID:27153395|PMID:27387384|PMID:27607234|PMID:28492532|PMID:28669926|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:31319225|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653|PMID:9536098|PMID:9804340 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:12849 autistic disorder ISO RGD:1313986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:1324 lung cancer ISS RGD:1313987 D RGD:13592920 20180518 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:1749 squamous cell carcinoma ISO RGD:1313986 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:1793 pancreatic cancer ISO RGD:1313986 D RGD:2317130|PMID:18559563 20100415 RGD DNA:polymorphism:intron:AF076952 (human) 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:1313986 D RGD:10401086|PMID:21751198 20150924 RGD DNA:SNPs: :rs1124303, rs3731108 (human) 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313986 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:3910 lung adenocarcinoma ISO RGD:1313986 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21327329|PMID:27777383 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1313986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000918 Disease Progression ISO RGD:1313986 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313986 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313986 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1313986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20106949 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9005172 Lung Neoplasms ISO RGD:1313986 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:17325666|PMID:24084170 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216194 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1313986 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 1305760 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9252 amino acid metabolic disorder ISO RGD:1313986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 1305761 Mylip myosin regulatory light chain interacting protein gene DOID:289 endometriosis ISO RGD:1313988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1305761 Mylip myosin regulatory light chain interacting protein gene DOID:630 genetic disease ISO RGD:1313988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305762 Ebna1bp2 EBNA1 binding protein 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313990 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305762 Ebna1bp2 EBNA1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305762 Ebna1bp2 EBNA1 binding protein 2 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1313990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 1305764 Nusap1 nucleolar and spindle associated protein 1 gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1313993 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:25741868 1305764 Nusap1 nucleolar and spindle associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1313993 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305764 Nusap1 nucleolar and spindle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305764 Nusap1 nucleolar and spindle associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313993 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305764 Nusap1 nucleolar and spindle associated protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313993 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1305764 Nusap1 nucleolar and spindle associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1313993 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305766 Nudt21 nudix hydrolase 21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305766 Nudt21 nudix hydrolase 21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305766 Nudt21 nudix hydrolase 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1305766 Nudt21 nudix hydrolase 21 gene DOID:3910 lung adenocarcinoma ISO RGD:1313996 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305766 Nudt21 nudix hydrolase 21 gene DOID:630 genetic disease ISO RGD:1313996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305766 Nudt21 nudix hydrolase 21 gene DOID:9006205 Animal Disease Models ISO RGD:1313996 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1305767 Cpsf3 cleavage and polyadenylation specific factor 3 gene DOID:630 genetic disease ISO RGD:1313998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305767 Cpsf3 cleavage and polyadenylation specific factor 3 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:1313998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:35121750 1305768 Cfap100 cilia and flagella associated protein 100 gene DOID:630 genetic disease ISO RGD:1602811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305768 Cfap100 cilia and flagella associated protein 100 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602811 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1305768 Cfap100 cilia and flagella associated protein 100 gene DOID:9270 alkaptonuria ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1305769 Pink1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19048950|PMID:21421046|PMID:24475098|PMID:27003823 1305769 Pink1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:7240710 20130221 OMIM 1305769 Pink1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:15087508|PMID:15349860|PMID:15349870|PMID:15349871|PMID:15584030|PMID:15596610|PMID:15824318|PMID:15955953|PMID:15970950|PMID:16009891|PMID:16199547|PMID:16207217|PMID:16207731|PMID:16257123|PMID:16401616|PMID:16482571|PMID:16547921|PMID:16632486|PMID:16702191|PMID:16755580|PMID:16769864|PMID:16805805|PMID:16966503|PMID:16969854|PMID:17030667|PMID:17055324|PMID:17172567|PMID:17576681|PMID:17579517|PMID:17960343|PMID:18003639|PMID:18286320|PMID:18330912|PMID:18359116|PMID:18403612|PMID:18486522|PMID:18524835|PMID:18541801|PMID:18546294|PMID:18685134|PMID:18704525|PMID:18785233|PMID:19087301|PMID:19229105|PMID:19242547|PMID:19351622|PMID:19847793|PMID:19880420|PMID:19889566|PMID:19890973|PMID:20126261|PMID:20356854|PMID:20506312|PMID:20547144|PMID:20558144|PMID:20798600|PMID:20981092|PMID:21412950|PMID:21488273|PMID:21534944|PMID:21925922|PMID:21996382|PMID:22118943|PMID:22238344|PMID:22243833|PMID:22445250|PMID:22451330|PMID:22644621|PMID:22764206|PMID:22956510|PMID:23063710|PMID:23303188|PMID:23334666|PMID:2345993|PMID:23459931|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24167364|PMID:24374372|PMID:24660942|PMID:24677602|PMID:25466404|PMID:25558820|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27094865|PMID:27574110|PMID:27884173|PMID:28492532|PMID:28502045|PMID:28849312|PMID:29091718|PMID:29255601|PMID:29655942|PMID:30502028|PMID:31217084|PMID:32446772|PMID:32713623|PMID:32861104|PMID:32870915|PMID:33845304|PMID:34148545|PMID:9536098 1305769 Pink1 PTEN induced kinase 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314001 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 1305769 Pink1 PTEN induced kinase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1314001 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1305769 Pink1 PTEN induced kinase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1314001 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:25741868|PMID:28492532 1305769 Pink1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism IMP D RGD:13210569|PMID:24969022 20171211 RGD 1305769 Pink1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1314001 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:11254447|PMID:15349871|PMID:23046578|PMID:24441527|PMID:24792327|PMID:26558463 1305769 Pink1 PTEN induced kinase 1 gene DOID:1024 leprosy ISO RGD:1314001 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 1305769 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease IMP D RGD:11560775|PMID:25421206 20210218 RGD 1305769 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease IMP D RGD:12880446|PMID:24157858 20170508 RGD 1305769 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:10450518|PMID:26223426 20160115 RGD 1305769 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:10450521|PMID:25639775 20160115 RGD 1305769 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:17010972|PMID:21366594|PMID:22043175|PMID:24374061|PMID:25149416|PMID:30734931 1305769 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 1305769 Pink1 PTEN induced kinase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314001 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 1305769 Pink1 PTEN induced kinase 1 gene DOID:630 genetic disease ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305769 Pink1 PTEN induced kinase 1 gene DOID:769 neuroblastoma ISO RGD:1314001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 1305769 Pink1 PTEN induced kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 1305769 Pink1 PTEN induced kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1314001 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35312153 1305769 Pink1 PTEN induced kinase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1314001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1305770 Rbm22 RNA binding motif protein 22 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305770 Rbm22 RNA binding motif protein 22 gene DOID:630 genetic disease ISO RGD:1314003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305770 Rbm22 RNA binding motif protein 22 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305771 Casp8ap2 caspase 8 associated protein 2 gene DOID:630 genetic disease ISO RGD:1314005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305773 Clec16a C-type lectin domain containing 16A gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1604037 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 1305773 Clec16a C-type lectin domain containing 16A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1305773 Clec16a C-type lectin domain containing 16A gene DOID:12236 primary biliary cholangitis ISO RGD:1604037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 1305773 Clec16a C-type lectin domain containing 16A gene DOID:1289 neurodegenerative disease ISS RGD:1314008 D RGD:13592920 20191226 MouseDO 1305773 Clec16a C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 1305773 Clec16a C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:5491177|PMID:18593762 20110929 RGD DNA:polymorphism:intron:rs12917716C (human) 1305773 Clec16a C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18946483|PMID:19525955 1305773 Clec16a C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:5491175|PMID:21653641 20110928 RGD DNA:polymorphism:intron:g.194570G>A, rs7184083 (human) 1305773 Clec16a C-type lectin domain containing 16A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1305773 Clec16a C-type lectin domain containing 16A gene DOID:5812 MHC class II deficiency ISO RGD:1604037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305773 Clec16a C-type lectin domain containing 16A gene DOID:630 genetic disease ISO RGD:1604037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305773 Clec16a C-type lectin domain containing 16A gene DOID:7148 rheumatoid arthritis ISO RGD:1604037 D RGD:5491176|PMID:19221398 20110928 RGD DNA:polymorphism:intron:rs6498169G (human) 1305773 Clec16a C-type lectin domain containing 16A gene DOID:9074 systemic lupus erythematosus ISO RGD:1604037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 1305773 Clec16a C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632545|PMID:18946483 1305773 Clec16a C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:2313978|PMID:18946483 20091029 RGD DNA:polymorphism:intron:rs725613 (human) 1305773 Clec16a C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:5491176|PMID:19221398 20110928 RGD DNA:polymorphism:intron:rs2903692A (human) 1305776 Desi1 desumoylating isopeptidase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1305776 Desi1 desumoylating isopeptidase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607044 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1305776 Desi1 desumoylating isopeptidase 1 gene DOID:630 genetic disease ISO RGD:1607044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305777 Inpp5f inositol polyphosphate-5-phosphatase F gene DOID:630 genetic disease ISO RGD:1314013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305778 Sgms2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:7240710 20190731 OMIM 1305778 Sgms2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 1305778 Sgms2 sphingomyelin synthase 2 gene DOID:630 genetic disease ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 1305778 Sgms2 sphingomyelin synthase 2 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 1305779 Lratd1 LRAT domain containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1305779 Lratd1 LRAT domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602648 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305779 Lratd1 LRAT domain containing 1 gene DOID:630 genetic disease ISO RGD:1602648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305780 Tigd4 tigger transposable element derived 4 gene DOID:630 genetic disease ISO RGD:1314017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305781 Atmin ATM interactor gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603699 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 1305781 Atmin ATM interactor gene DOID:630 genetic disease ISO RGD:1603699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305782 Snx10 sorting nexin 10 gene DOID:0080600 COVID-19 ISO RGD:1314019 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305782 Snx10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:7240710 20140911 OMIM 1305782 Snx10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 PMID:22499339|PMID:23123320|PMID:23280965|PMID:25212774|PMID:25741868|PMID:25811986|PMID:28492532 1305782 Snx10 sorting nexin 10 gene DOID:13533 osteopetrosis ISO RGD:1314019 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile osteopetrosis PMID:25741868 1305782 Snx10 sorting nexin 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314019 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305782 Snx10 sorting nexin 10 gene DOID:630 genetic disease ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305782 Snx10 sorting nexin 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1314019 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1305783 Hmgxb4 HMG-box containing 4 gene DOID:630 genetic disease ISO RGD:1314021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305784 Elmo2 engulfment and cell motility 2 gene DOID:2234 focal epilepsy ISO RGD:1314023 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1305784 Elmo2 engulfment and cell motility 2 gene DOID:630 genetic disease ISO RGD:1314023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305784 Elmo2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:7240710 20190315 OMIM 1305784 Elmo2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular malformation, primary intraosseous PMID:11932989|PMID:25741868|PMID:27476657 1305785 Manba mannosidase beta gene DOID:1059 intellectual disability ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18980795|PMID:19728872|PMID:25741868|PMID:28492532|PMID:30552791|PMID:9536098 1305785 Manba mannosidase beta gene DOID:12177 common variable immunodeficiency ISO RGD:1314025 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868 1305785 Manba mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:7240710 20180822 OMIM 1305785 Manba mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:12890191|PMID:1499588|PMID:16199547|PMID:1623631|PMID:16401745|PMID:16904924|PMID:17420068|PMID:17576681|PMID:18565776|PMID:18980795|PMID:19728872|PMID:19763152|PMID:20307669|PMID:2079835|PMID:22369051|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741867|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30311386|PMID:30455226|PMID:30552791|PMID:30872814|PMID:30951195|PMID:31115173|PMID:34906502|PMID:3762648|PMID:9384606|PMID:9536098 1305785 Manba mannosidase beta gene DOID:630 genetic disease ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305785 Manba mannosidase beta gene DOID:9004538 Hearing Loss ISO RGD:1314025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18565776|PMID:2079835|PMID:28492532|PMID:30311386|PMID:30872814|PMID:9384606 1305786 Plek2 pleckstrin 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1314027 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1305786 Plek2 pleckstrin 2 gene DOID:630 genetic disease ISO RGD:1314027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305786 Plek2 pleckstrin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:12849 autistic disorder ISO RGD:1314029 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1314029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1314029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314029 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9263 homocystinuria ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1305787 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305788 Scmh1 Scm polycomb group protein homolog 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314031 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1305788 Scmh1 Scm polycomb group protein homolog 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314031 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1305788 Scmh1 Scm polycomb group protein homolog 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 1305788 Scmh1 Scm polycomb group protein homolog 1 gene DOID:630 genetic disease ISO RGD:1314031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305789 Wdr1 WD repeat domain 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314033 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1305789 Wdr1 WD repeat domain 1 gene DOID:11476 osteoporosis ISO RGD:1314033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1305789 Wdr1 WD repeat domain 1 gene DOID:1588 thrombocytopenia ISO RGD:1314033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 1305789 Wdr1 WD repeat domain 1 gene DOID:630 genetic disease ISO RGD:1314033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305789 Wdr1 WD repeat domain 1 gene DOID:9005372 Inflammation ISO RGD:1314033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 1305789 Wdr1 WD repeat domain 1 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1314033 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:29740699 1305789 Wdr1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:7240710 20200812 OMIM 1305789 Wdr1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1 deficiency PMID:205284|PMID:25741868|PMID:27557945|PMID:27994071|PMID:28492532|PMID:29751004 1305790 Phyhip phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:630 genetic disease ISO RGD:1314035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305790 Phyhip phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1314035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1305791 Snx8 sorting nexin 8 gene DOID:0080600 COVID-19 ISO RGD:1314037 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305791 Snx8 sorting nexin 8 gene DOID:630 genetic disease ISO RGD:1314037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305792 Krt36 keratin 36 gene DOID:630 genetic disease ISO RGD:1314039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305793 Wbp1l WW domain binding protein 1-like gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 1305793 Wbp1l WW domain binding protein 1-like gene DOID:630 genetic disease ISO RGD:1314041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305794 Dsp desmoplakin gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1314043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 1305794 Dsp desmoplakin gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1314043 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1305794 Dsp desmoplakin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314043 D RGD:1580890|PMID:12875771 19990101 RGD 1305794 Dsp desmoplakin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:10395892|PMID:10594734|PMID:11063735|PMID:15941723|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19358943|PMID:19558499|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20738328|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25157032|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25525159|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25691752|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26332594|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29253866|PMID:29892087|PMID:29915098|PMID:30354334|PMID:30398466|PMID:30775854|PMID:30847666|PMID:31110529|PMID:31264976|PMID:31317183|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31727422|PMID:31737537|PMID:31785789|PMID:32277046|PMID:32372669|PMID:33087929|PMID:33313835|PMID:33652588|PMID:34290054|PMID:34352074|PMID:35083019|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050451 Brugada syndrome ISO RGD:1314043 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:33232181|PMID:34213952|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29178656|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29607617|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34137518|PMID:34213952|PMID:34290054|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:25974703|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:9536098 1305794 Dsp desmoplakin gene DOID:0060319 cardiac arrest ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20716751|PMID:21606390|PMID:22240500|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:28492532|PMID:33313835 1305794 Dsp desmoplakin gene DOID:0060480 left ventricular noncompaction ISO RGD:1314043 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:28492532|PMID:33552729 1305794 Dsp desmoplakin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:33552729 1305794 Dsp desmoplakin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 1305794 Dsp desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:7240710 20130221 OMIM 1305794 Dsp desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II PMID:10594734|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25741868|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098|PMID:9887343 1305794 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21193976 1305794 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:7240710 20130221 OMIM 1305794 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22795705|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32005173|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32546831|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:8769422 1305794 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:9229116|PMID:9536098|PMID:9887343 1305794 Dsp desmoplakin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:21723241|PMID:24070718|PMID:25741868|PMID:26138720|PMID:28492532 1305794 Dsp desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:7240710 20130221 OMIM 1305794 Dsp desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:10395892|PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12373648|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25741904|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30286183|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31028357|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32005173|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32546831|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074 1305794 Dsp desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:8769422|PMID:9229116|PMID:9536098|PMID:9887343 1305794 Dsp desmoplakin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30345701|PMID:30700137 1305794 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976 1305794 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976|PMID:31402444 1305794 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 1305794 Dsp desmoplakin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29633331|PMID:30615648|PMID:30775854 1305794 Dsp desmoplakin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29633331|PMID:30615648|PMID:30775854 1305794 Dsp desmoplakin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15941723|PMID:20152563|PMID:20716751|PMID:21606396|PMID:21636032|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25227139|PMID:25637381|PMID:25661095|PMID:25741868|PMID:26138720|PMID:26265630|PMID:27532257|PMID:28492532|PMID:30775854|PMID:32808748 1305794 Dsp desmoplakin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1314043 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532|PMID:29253866 1305794 Dsp desmoplakin gene DOID:0110644 long QT syndrome 1 ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19095136|PMID:19279339|PMID:20716751|PMID:21606390|PMID:21606396|PMID:21723241|PMID:24070718|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28527814|PMID:30382575 1305794 Dsp desmoplakin gene DOID:0111073 progressive familial heart block ISO RGD:1314043 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:25741868 1305794 Dsp desmoplakin gene DOID:10969 hemiplegia ISO RGD:1314043 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 1305794 Dsp desmoplakin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:1580892|PMID:8944586 19990101 RGD 1305794 Dsp desmoplakin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18632414|PMID:19863551|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29255176 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:1580891|PMID:11063735 19990101 RGD 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31568572|PMID:9536098 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:9536098 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31983221|PMID:32942234|PMID:9536098 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30398466|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32942234|PMID:34137518|PMID:34290054|PMID:9536098 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:9536098 1305794 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:35581137|PMID:9536098 1305794 Dsp desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30993396|PMID:9536098 1305794 Dsp desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:34290054|PMID:9536098 1305794 Dsp desmoplakin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314043 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 1305794 Dsp desmoplakin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314043 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 1305794 Dsp desmoplakin gene DOID:3770 pulmonary fibrosis ISO RGD:1314043 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 1305794 Dsp desmoplakin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314043 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:397 restrictive cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11063735|PMID:16628197|PMID:21636032|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 1305794 Dsp desmoplakin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1314043 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:630 genetic disease ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:6364 migraine ISO RGD:1314043 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 1305794 Dsp desmoplakin gene DOID:820 myocarditis ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28359509|PMID:28436997|PMID:28492532|PMID:32372669|PMID:32410525|PMID:34213952 1305794 Dsp desmoplakin gene DOID:850 lung disease ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 1305794 Dsp desmoplakin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16917092|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:28527814|PMID:31402444|PMID:31447099 1305794 Dsp desmoplakin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:20129281|PMID:20152563|PMID:21606396|PMID:21636032|PMID:21723241|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25637381|PMID:25661095|PMID:25693453|PMID:25741868|PMID:28471438|PMID:28492532|PMID:30775854|PMID:31333075|PMID:31568572 1305794 Dsp desmoplakin gene DOID:9000727 Syncope ISO RGD:1314043 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 1305794 Dsp desmoplakin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 1305794 Dsp desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:7240710 20130221 OMIM 1305794 Dsp desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:10395892|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20302578|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 1305794 Dsp desmoplakin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314043 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:9003163 Heart Block ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 1305794 Dsp desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:7240710 20150812 OMIM 1305794 Dsp desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:15941723|PMID:16175511|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22795705|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23651034|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25979592|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27097650|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 1305794 Dsp desmoplakin gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:28492532 1305794 Dsp desmoplakin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 1305794 Dsp desmoplakin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31638414|PMID:31983221 1305794 Dsp desmoplakin gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:18632414|PMID:21636032|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314043 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1305794 Dsp desmoplakin gene DOID:9007018 Skin Fragility-Woolly Hair Syndrome ISO RGD:1314043 D RGD:7240710 20130221 OMIM 1305794 Dsp desmoplakin gene DOID:9007018 Skin Fragility-Woolly Hair Syndrome ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:10395892|PMID:11278896|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9229116|PMID:9536098 1305794 Dsp desmoplakin gene DOID:9007820 Sudden Death ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 1305794 Dsp desmoplakin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 1305794 Dsp desmoplakin gene DOID:9008086 Developmental Disabilities ISO RGD:1314043 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357 1305794 Dsp desmoplakin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1314043 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 1305794 Dsp desmoplakin gene DOID:9008195 Subvalvular Aortic Stenosis, Eisenberg Type ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type PMID:25741868|PMID:28492532 1305794 Dsp desmoplakin gene DOID:9120 amyloidosis ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:24033266|PMID:24825141|PMID:25741868|PMID:28492532|PMID:33232181 1305794 Dsp desmoplakin gene DOID:9651 systolic heart failure ISO RGD:1314043 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1305795 Trim21 tripartite motif-containing 21 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1305795 Trim21 tripartite motif-containing 21 gene DOID:630 genetic disease ISO RGD:1345175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305796 Atr ATR serine/threonine kinase gene DOID:0050569 Seckel syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1305796 Atr ATR serine/threonine kinase gene DOID:0050569 Seckel syndrome ISS RGD:1557923 D RGD:13592920 20180518 MouseDO 1305796 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:7240710 20130425 OMIM 1305796 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:17010193|PMID:17576681|PMID:18414213|PMID:21228398|PMID:23111928|PMID:23144622|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26845104|PMID:28492532|PMID:29439820|PMID:30159786|PMID:30199583|PMID:30262796|PMID:30995915|PMID:33057211|PMID:34008015|PMID:9536098 1305796 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1557923 D RGD:10053614|PMID:19620979 20150715 RGD 1305796 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 susceptibility ISO RGD:1314047 D RGD:1599404|PMID:12640452 20070201 RGD DNA:point mutation:2101A>G (human) 1305796 Atr ATR serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1314047 D RGD:150340693|PMID:32001675 20210826 RGD 1305796 Atr ATR serine/threonine kinase gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ATR-X-related syndrome PMID:25741868|PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:10316 pneumoconiosis ISO RGD:1314047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1305796 Atr ATR serine/threonine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1314047 D RGD:10047419|PMID:23861893 20150713 RGD 1305796 Atr ATR serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1314047 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:1324 lung cancer treatment ISO RGD:1314047 D RGD:150340694|PMID:25010037 20210827 RGD 1305796 Atr ATR serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1314047 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1314047 D RGD:2317234|PMID:18381943 20100323 RGD DNA:SNP: :340C>T (human) 1305796 Atr ATR serine/threonine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1314047 D RGD:150340676|PMID:17879369 20210826 RGD DNA:mutations: : 1305796 Atr ATR serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:18414213|PMID:21228398|PMID:23144622|PMID:25741868|PMID:26193622|PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:9001916 Fetal Death ISO RGD:1557923 D RGD:150340675|PMID:15282542 20210826 RGD 1305796 Atr ATR serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 1305796 Atr ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:7240710 20140911 OMIM 1305796 Atr ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial PMID:15987455|PMID:17010193|PMID:17576681|PMID:18414213|PMID:22341969|PMID:24033266|PMID:25741868|PMID:26845104|PMID:28492532|PMID:30262796|PMID:30995915|PMID:33057211|PMID:34008015|PMID:9536098 1305796 Atr ATR serine/threonine kinase gene DOID:9004643 Urologic Neoplasms ISO RGD:1314047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 1305796 Atr ATR serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987455|PMID:18414213|PMID:25741868|PMID:26845104|PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314047 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:19470935|PMID:21228398|PMID:23144622|PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314047 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 1305796 Atr ATR serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1314047 D RGD:150340692|PMID:28820634 20210826 RGD 1305797 Ttc39b tetratricopeptide repeat domain 39B gene DOID:630 genetic disease ISO RGD:1314048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305798 Mboat2 membrane bound O-acyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1314050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305798 Mboat2 membrane bound O-acyltransferase domain containing 2 gene DOID:9005369 Hepatomegaly ISO RGD:1314050 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1305799 Depdc1b DEP domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1314052 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305799 Depdc1b DEP domain containing 1B gene DOID:630 genetic disease ISO RGD:1314052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305799 Depdc1b DEP domain containing 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1314052 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305799 Depdc1b DEP domain containing 1B gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:1314052 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:21681106|PMID:24203977 1305799 Depdc1b DEP domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314052 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305800 Ms4a6a membrane spanning 4-domains A6A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1305800 Ms4a6a membrane spanning 4-domains A6A gene DOID:1059 intellectual disability ISO RGD:1323386 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305800 Ms4a6a membrane spanning 4-domains A6A gene DOID:2986 IgA glomerulonephritis ISO RGD:1323386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1305800 Ms4a6a membrane spanning 4-domains A6A gene DOID:630 genetic disease ISO RGD:1323386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305800 Ms4a6a membrane spanning 4-domains A6A gene DOID:9775 diastolic heart failure ISO RGD:1323386 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1305801 Mylk3 myosin light chain kinase 3 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1604762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 1305801 Mylk3 myosin light chain kinase 3 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1604762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 1305801 Mylk3 myosin light chain kinase 3 gene DOID:630 genetic disease ISO RGD:1604762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305803 Snx15 sorting nexin 15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1305803 Snx15 sorting nexin 15 gene DOID:1059 intellectual disability ISO RGD:1314058 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305803 Snx15 sorting nexin 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305803 Snx15 sorting nexin 15 gene DOID:2746 glycogen storage disease V ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305803 Snx15 sorting nexin 15 gene DOID:3070 high grade glioma ISO RGD:1314058 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1305803 Snx15 sorting nexin 15 gene DOID:630 genetic disease ISO RGD:1314058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305804 Dusp2 dual specificity phosphatase 2 gene DOID:0080600 COVID-19 ISO RGD:1314060 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1305804 Dusp2 dual specificity phosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1314060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305804 Dusp2 dual specificity phosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1314060 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305804 Dusp2 dual specificity phosphatase 2 gene DOID:630 genetic disease ISO RGD:1314060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305804 Dusp2 dual specificity phosphatase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1305805 Card6 caspase recruitment domain family, member 6 gene DOID:0080600 COVID-19 ISO RGD:1314062 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305805 Card6 caspase recruitment domain family, member 6 gene DOID:630 genetic disease ISO RGD:1314062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305805 Card6 caspase recruitment domain family, member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314062 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305806 Col14a1 collagen type XIV alpha 1 chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1314064 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1305806 Col14a1 collagen type XIV alpha 1 chain gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1314064 D RGD:151665741|PMID:25050929 20220330 RGD DNA:hypermethylation 1305806 Col14a1 collagen type XIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1314064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305806 Col14a1 collagen type XIV alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314064 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1305808 Slc44a3 solute carrier family 44, member 3 gene DOID:630 genetic disease ISO RGD:1602189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1314067 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314067 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1305809 Nkain4 Sodium/potassium transporting ATPase interacting 4 gene DOID:630 genetic disease ISO RGD:1314067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305810 Tspan4 tetraspanin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1305810 Tspan4 tetraspanin 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1305810 Tspan4 tetraspanin 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314069 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1305810 Tspan4 tetraspanin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1305810 Tspan4 tetraspanin 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314069 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1305810 Tspan4 tetraspanin 4 gene DOID:630 genetic disease ISO RGD:1314069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305810 Tspan4 tetraspanin 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314069 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1305812 Osr2 odd-skipped related transciption factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1345615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1305812 Osr2 odd-skipped related transciption factor 2 gene DOID:289 endometriosis ISO RGD:1345615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1305812 Osr2 odd-skipped related transciption factor 2 gene DOID:630 genetic disease ISO RGD:1345615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305813 Fbxl7 F-box and leucine-rich repeat protein 7 gene DOID:630 genetic disease ISO RGD:1314074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305813 Fbxl7 F-box and leucine-rich repeat protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314074 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305814 Tfdp2 transcription factor Dp-2 gene DOID:0080600 COVID-19 ISO RGD:1314075 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305814 Tfdp2 transcription factor Dp-2 gene DOID:1790 malignant mesothelioma ISO RGD:1314075 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1305814 Tfdp2 transcription factor Dp-2 gene DOID:630 genetic disease ISO RGD:1314075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305815 Podxl2 podocalyxin-like 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1305815 Podxl2 podocalyxin-like 2 gene DOID:630 genetic disease ISO RGD:1347781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305815 Podxl2 podocalyxin-like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1305815 Podxl2 podocalyxin-like 2 gene DOID:9270 alkaptonuria ISO RGD:1347781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1305816 Kera keratocan gene DOID:0060287 cornea plana ISS RGD:1314079 D RGD:13592920 20180518 MouseDO OMIM:121400 | OMIM:217300 1305816 Kera keratocan gene DOID:10126 keratoconus ISO RGD:1314078 D RGD:1600400|PMID:11683372 20070307 RGD 1305816 Kera keratocan gene DOID:11342 arcus senilis ISO RGD:1314078 D RGD:1600335|PMID:10802664 20070307 RGD autosomal recessive cornea plana, OMIM:217300 1305816 Kera keratocan gene DOID:2566 corneal dystrophy ISO RGD:1314078 D RGD:1600335|PMID:10802664 20070307 RGD autosomal recessive cornea plana, OMIM:217300 1305816 Kera keratocan gene DOID:630 genetic disease ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305816 Kera keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:7240710 20130221 OMIM 1305816 Kera keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornea plana 2 PMID:10802664|PMID:11726611|PMID:11754099|PMID:15370545|PMID:16157807|PMID:16234475|PMID:17011957|PMID:23834557|PMID:25741868|PMID:28492532|PMID:28799822|PMID:31059048 1305817 Eipr1 EARP complex and GARP complex interacting protein 1 gene DOID:303 substance-related disorder ISO RGD:1314080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1305819 Slc43a2 solute carrier family 43 member 2 gene DOID:630 genetic disease ISO RGD:1350504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305819 Slc43a2 solute carrier family 43 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305820 Disp3 dispatched RND transporter family member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1305820 Disp3 dispatched RND transporter family member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1305820 Disp3 dispatched RND transporter family member 3 gene DOID:630 genetic disease ISO RGD:1603018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305820 Disp3 dispatched RND transporter family member 3 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603018 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1305821 Plpp7 phospholipid phosphatase 7 (inactive) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305821 Plpp7 phospholipid phosphatase 7 (inactive) gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1314085 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1305821 Plpp7 phospholipid phosphatase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1314085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305822 Dpy19l1 dpy-19 like C-mannosyltransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603693 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305822 Dpy19l1 dpy-19 like C-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305823 Cep20 centrosomal protein 20 gene DOID:12849 autistic disorder ISO RGD:1606173 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305823 Cep20 centrosomal protein 20 gene DOID:1826 epilepsy ISO RGD:1606173 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305823 Cep20 centrosomal protein 20 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 1305823 Cep20 centrosomal protein 20 gene DOID:5419 schizophrenia ISO RGD:1606173 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305823 Cep20 centrosomal protein 20 gene DOID:8445 intestinal volvulus ISO RGD:1606173 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1305823 Cep20 centrosomal protein 20 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 1305823 Cep20 centrosomal protein 20 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1606173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 1305823 Cep20 centrosomal protein 20 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606173 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1305824 Tmem134 transmembrane protein 134 gene DOID:1059 intellectual disability ISO RGD:1604784 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305824 Tmem134 transmembrane protein 134 gene DOID:630 genetic disease ISO RGD:1604784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305824 Tmem134 transmembrane protein 134 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1305824 Tmem134 transmembrane protein 134 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1305825 Tpte2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene DOID:630 genetic disease ISO RGD:1314090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305826 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:11720 distal myopathy ISS RGD:1314093 D RGD:13592920 20230330 MouseDO 1305826 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:630 genetic disease ISO RGD:1314092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305826 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:9001370 Congenital Myopathy 21 with Early Respiratory Failure ISO RGD:1314092 D RGD:7240710 20230505 OMIM 1305826 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:9001370 Congenital Myopathy 21 with Early Respiratory Failure ISO RGD:1314092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure PMID:36264506|PMID:36344539 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314094 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1314094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:8445 intestinal volvulus ISO RGD:1314094 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1314094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21573905 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314094 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314094 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1305827 Cndp2 carnosine dipeptidase 2 gene DOID:9452 fatty liver disease ISO RGD:1314094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1305828 Dpy19l4 dpy-19 like 4 gene DOID:630 genetic disease ISO RGD:1606660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305829 Lcmt2 leucine carboxyl methyltransferase 2 gene DOID:2717 Bloom syndrome ISO RGD:1314097 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305829 Lcmt2 leucine carboxyl methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305829 Lcmt2 leucine carboxyl methyltransferase 2 gene DOID:9256 colorectal cancer ISO RGD:1314097 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305831 Pomp proteasome maturation protein gene DOID:0080600 COVID-19 ISO RGD:1314101 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305831 Pomp proteasome maturation protein gene DOID:13641 exfoliation syndrome ISO RGD:1314101 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 1305831 Pomp proteasome maturation protein gene DOID:630 genetic disease ISO RGD:1314101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305831 Pomp proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:7240710 20150617 OMIM 1305831 Pomp proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma PMID:20226437|PMID:22235297|PMID:25741868|PMID:27503413|PMID:28492532 1305831 Pomp proteasome maturation protein gene DOID:9009201 Proteasome-Associated Autoinflammatory Syndrome 2 ISO RGD:1314101 D RGD:7240710 20190315 OMIM 1305831 Pomp proteasome maturation protein gene DOID:9009201 Proteasome-Associated Autoinflammatory Syndrome 2 ISO RGD:1314101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 2 PMID:12022327|PMID:25741868|PMID:26524591|PMID:28492532|PMID:29805043 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:7240710 20130425 OMIM 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11 PMID:11545739|PMID:12923864|PMID:16199547|PMID:16708387|PMID:16799052|PMID:17325180|PMID:17412961|PMID:17576681|PMID:18317597|PMID:19293337|PMID:19618371|PMID:20861475|PMID:23288994|PMID:23950152|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26781568|PMID:26872967|PMID:28192796|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30582903|PMID:31047384|PMID:31054281|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33085829|PMID:33090715|PMID:33946315|PMID:5764686|PMID:8004108|PMID:8025041|PMID:8808602|PMID:9345108|PMID:9536098 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8547535|PMID:23701314 20140217 RGD 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314103 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:630 genetic disease ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305832 Prpf31 pre-mRNA processing factor 31 gene DOID:8501 fundus dystrophy ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17325180|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23288994|PMID:23343310|PMID:23950152|PMID:24265693|PMID:24664689|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:28041643|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30543658|PMID:30582903|PMID:30718709|PMID:31047384|PMID:31054281|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33090715|PMID:33851411|PMID:33946315|PMID:8808602|PMID:9536098 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604545 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1604545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1604545 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1305833 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1305834 Zgrf1 zinc finger, GRF-type containing 1 gene DOID:0111275 speech-language disorder-1 ISO RGD:1602323 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 1305834 Zgrf1 zinc finger, GRF-type containing 1 gene DOID:12271 aniridia ISO RGD:1602323 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1305834 Zgrf1 zinc finger, GRF-type containing 1 gene DOID:630 genetic disease ISO RGD:1602323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305835 Tectb tectorin beta gene DOID:630 genetic disease ISO RGD:1314106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305836 Rasgef1a RasGEF domain family, member 1A gene DOID:630 genetic disease ISO RGD:1314108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305837 Spire2 spire-type actin nucleation factor 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1305837 Spire2 spire-type actin nucleation factor 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1305837 Spire2 spire-type actin nucleation factor 2 gene DOID:13636 Fanconi anemia ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:19367192|PMID:25741868|PMID:28492532|PMID:29098742|PMID:9721219 1305837 Spire2 spire-type actin nucleation factor 2 gene DOID:630 genetic disease ISO RGD:1314110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305837 Spire2 spire-type actin nucleation factor 2 gene DOID:6846 familial melanoma ISO RGD:1314110 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 1305838 Dppa5 developmental pluripotency associated 5 gene DOID:10487 Hirschsprung's disease ISO RGD:1344123 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1305838 Dppa5 developmental pluripotency associated 5 gene DOID:3659 sialuria ISO RGD:1344123 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1305838 Dppa5 developmental pluripotency associated 5 gene DOID:630 genetic disease ISO RGD:1344123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305839 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:2661 myoepithelioma ISO RGD:1314113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1305839 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1314113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305839 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1314113 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1305839 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1314113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1314115 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0080690 RASopathy ISO RGD:1314115 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1314115 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1314115 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:10283 prostate cancer ISO RGD:1314115 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:5419 schizophrenia ISO RGD:1314115 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1314115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314115 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305840 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:9007661 Dwarfism ISO RGD:1314115 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305841 Gpr158 G protein-coupled receptor 158 gene DOID:630 genetic disease ISO RGD:1314117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305841 Gpr158 G protein-coupled receptor 158 gene DOID:684 hepatocellular carcinoma ISO RGD:1314117 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305843 Caln1 calneuron 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314120 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305843 Caln1 calneuron 1 gene DOID:630 genetic disease ISO RGD:1314120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305843 Caln1 calneuron 1 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1314120 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 1305844 Ralyl RALY RNA binding protein-like gene DOID:630 genetic disease ISO RGD:1606457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305844 Ralyl RALY RNA binding protein-like gene DOID:9008939 Breast Neoplasms ISO RGD:1606457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1305845 Styxl1 serine/threonine/tyrosine interacting-like 1 gene DOID:1826 epilepsy ISO RGD:1353281 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1305845 Styxl1 serine/threonine/tyrosine interacting-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353281 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305845 Styxl1 serine/threonine/tyrosine interacting-like 1 gene DOID:630 genetic disease ISO RGD:1353281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305845 Styxl1 serine/threonine/tyrosine interacting-like 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1353281 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1305846 Hjurp Holliday junction recognition protein gene DOID:0060476 Perlman syndrome ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1305846 Hjurp Holliday junction recognition protein gene DOID:0080600 COVID-19 ISO RGD:2292108 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305846 Hjurp Holliday junction recognition protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1305846 Hjurp Holliday junction recognition protein gene DOID:630 genetic disease ISO RGD:2292108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305846 Hjurp Holliday junction recognition protein gene DOID:684 hepatocellular carcinoma ISO RGD:2292108 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305847 Spopl speckle type BTB/POZ protein like gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1605812 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 1305847 Spopl speckle type BTB/POZ protein like gene DOID:630 genetic disease ISO RGD:1605812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1314126 D RGD:11049173|PMID:25107436 20160405 RGD mRNA:decreased expression:colonic mucosa (human) 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:10325 silicosis IEP D RGD:4893904|PMID:18685790 20160824 RGD mRNA:altered expression:lung (rat) 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:1909 melanoma ISO RGD:1314126 D RGD:11049176|PMID:19332774 20160405 RGD protein:increased expression:nevus (human) 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1314126 D RGD:11049179|PMID:21136934 20160405 RGD protein:increased expression:breast (human) 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:418 systemic scleroderma ISO RGD:1314126 D RGD:11049167|PMID:17722226 20160405 RGD protein:increased expression:saliva (human) 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:630 genetic disease ISO RGD:1314126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:8577 ulcerative colitis ISO RGD:1314126 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18836448 1305848 Arpc2 actin related protein 2/3 complex, subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314126 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305849 Rin3 Ras and Rab interactor 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1305849 Rin3 Ras and Rab interactor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1305849 Rin3 Ras and Rab interactor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1305849 Rin3 Ras and Rab interactor 3 gene DOID:5408 Paget's disease of bone ISO RGD:1314128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 1305849 Rin3 Ras and Rab interactor 3 gene DOID:630 genetic disease ISO RGD:1314128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305851 Tex261 testis expressed 261 gene DOID:543 dystonia ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1305851 Tex261 testis expressed 261 gene DOID:630 genetic disease ISO RGD:1346300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305851 Tex261 testis expressed 261 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1305852 Fkrp fukutin related protein gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 PMID:25741868 1305852 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 1305852 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:11667969|PMID:20236121 20170119 RGD DNA:missense mutation:exon:p.M1V (c.1A>G) (human) 1305852 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISS RGD:1314134 D RGD:13592920 20220602 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 1305852 Fkrp fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532 1305852 Fkrp fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 1305852 Fkrp fukutin related protein gene DOID:0080000 muscular disease ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:11063285|PMID:17994539 20170119 RGD DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human) 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:11667963|PMID:18671187 20170119 RGD DNA:missense mutations: :1364C>A, 1486T>A (human) 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:11667964|PMID:21296577 20170119 RGD DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human) 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:11667965|PMID:16634037 20170119 RGD DNA:duplications, missense mutations:exon:multiple 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:11667966|PMID:17113772 20170119 RGD DNA:missense mutation: :pP89A (human) 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:11667967|PMID:15580560 20170119 RGD DNA:missense mutation:exon:p.L276I (826C>A) (human) 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:1598944|PMID:11741828 20070104 RGD DNA:deletion, missense mutations, nonsense mutation: :multiple 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:7240710 20130221 OMIM 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I treatment ISO RGD:1314133 D RGD:11667961|PMID:25048216 20170119 RGD 1305852 Fkrp fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:1358626|PMID:14652796 20150304 RGD DNA:missense mutations: :p.A455D, p.V405L (human) 1305852 Fkrp fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:7240710 20130221 OMIM 1305852 Fkrp fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0110644 long QT syndrome 1 ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 1305852 Fkrp fukutin related protein gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1314133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:7240710 20130221 OMIM 1305852 Fkrp fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:11592034|PMID:11741828|PMID:12471058|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20236121|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:11667959|PMID:14523375 20170119 RGD DNA:missense mutation:exon:p.R54W (160C>T) (human) 1305852 Fkrp fukutin related protein gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 1305852 Fkrp fukutin related protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1314133 D RGD:11667064|PMID:15833432 20170111 RGD DNA:missense mutation:exon:p.L276I (826C>A) (human) 1305852 Fkrp fukutin related protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11741828|PMID:16344347|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:27884173|PMID:28492532|PMID:28688748 1305852 Fkrp fukutin related protein gene DOID:423 myopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:630 genetic disease ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305852 Fkrp fukutin related protein gene DOID:9000053 Headache ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Headache PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:11667960|PMID:20675713 20170119 RGD DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) 1305852 Fkrp fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:11667970|PMID:21224063 20170119 RGD 1305852 Fkrp fukutin related protein gene DOID:9003242 Paresthesia ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:9005532 Muscle Weakness ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:25741868 1305852 Fkrp fukutin related protein gene DOID:9007114 Mobility Limitation ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:9884 muscular dystrophy ISO RGD:1314133 D RGD:11064865|PMID:11592034 20170109 RGD DNA:missense mutations, nonsense mutations:exon:multiple 1305852 Fkrp fukutin related protein gene DOID:9884 muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17336067|PMID:25741868|PMID:28492532|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:34653404 1305852 Fkrp fukutin related protein gene DOID:9884 muscular dystrophy ISS RGD:1314134 D RGD:13592920 20180518 MouseDO OMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416 1305854 Dbf4 DBF4 zinc finger gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605697 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305854 Dbf4 DBF4 zinc finger gene DOID:630 genetic disease ISO RGD:1605697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305855 Dnah3 dynein, axonemal, heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:1314138 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305855 Dnah3 dynein, axonemal, heavy chain 3 gene DOID:1059 intellectual disability ISO RGD:1314138 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1305855 Dnah3 dynein, axonemal, heavy chain 3 gene DOID:630 genetic disease ISO RGD:1314138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305857 Syde1 synapse defective Rho GTPase homolog 1 gene DOID:630 genetic disease ISO RGD:1602201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305858 Cdc42ep3 CDC42 effector protein 3 gene DOID:0080690 RASopathy ISO RGD:1314141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305858 Cdc42ep3 CDC42 effector protein 3 gene DOID:630 genetic disease ISO RGD:1314141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305859 Elf5 E74 like ETS transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1314143 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305859 Elf5 E74 like ETS transcription factor 5 gene DOID:630 genetic disease ISO RGD:1314143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305860 Cd320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:7240710 20130221 OMIM 1305860 Cd320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1305860 Cd320 CD320 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1352822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1305860 Cd320 CD320 molecule gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1352822 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1305860 Cd320 CD320 molecule gene DOID:12849 autistic disorder ISO RGD:1352822 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305860 Cd320 CD320 molecule gene DOID:630 genetic disease ISO RGD:1352822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305861 Hnrnpll heterogeneous nuclear ribonucleoprotein L-like gene DOID:0080690 RASopathy ISO RGD:1353271 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305861 Hnrnpll heterogeneous nuclear ribonucleoprotein L-like gene DOID:11211 buphthalmos ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 1305861 Hnrnpll heterogeneous nuclear ribonucleoprotein L-like gene DOID:3883 Lynch syndrome ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1305861 Hnrnpll heterogeneous nuclear ribonucleoprotein L-like gene DOID:630 genetic disease ISO RGD:1353271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305862 Tmem63b transmembrane protein 63B gene DOID:630 genetic disease ISO RGD:1314147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305863 Klhl21 kelch-like family member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1305863 Klhl21 kelch-like family member 21 gene DOID:3070 high grade glioma ISO RGD:1351698 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1305863 Klhl21 kelch-like family member 21 gene DOID:630 genetic disease ISO RGD:1351698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305863 Klhl21 kelch-like family member 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351698 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305864 Stk32c serine/threonine kinase 32C gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314150 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1305864 Stk32c serine/threonine kinase 32C gene DOID:630 genetic disease ISO RGD:1314150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305865 Zfp451 zinc finger protein 451 gene DOID:5419 schizophrenia ISO RGD:1314152 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305865 Zfp451 zinc finger protein 451 gene DOID:630 genetic disease ISO RGD:1314152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305866 Fam83h family with sequence similarity 83, member H gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1305866 Fam83h family with sequence similarity 83, member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1305866 Fam83h family with sequence similarity 83, member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:7240710 20130221 OMIM 1305866 Fam83h family with sequence similarity 83, member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA PMID:18252228|PMID:18484629|PMID:19220331|PMID:19407157|PMID:22414746|PMID:25741868|PMID:28492532|PMID:33034243 1305866 Fam83h family with sequence similarity 83, member H gene DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ISO RGD:1603342 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 1305866 Fam83h family with sequence similarity 83, member H gene DOID:2187 amelogenesis imperfecta ISO RGD:1603342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18484629|PMID:19407157 1305866 Fam83h family with sequence similarity 83, member H gene DOID:4621 holoprosencephaly ISO RGD:1603342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1305866 Fam83h family with sequence similarity 83, member H gene DOID:630 genetic disease ISO RGD:1603342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305866 Fam83h family with sequence similarity 83, member H gene DOID:9001593 Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis ISO RGD:12270513 D RGD:9068941 20210604 OMIA Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis PMID:16961470|PMID:22212237|PMID:22253609|PMID:22339941|PMID:29284193|PMID:30650096 1305866 Fam83h family with sequence similarity 83, member H gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603342 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1305866 Fam83h family with sequence similarity 83, member H gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1603342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19407157 1305867 Snph syntaphilin gene DOID:630 genetic disease ISO RGD:1314155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305868 Adgrf3 adhesion G protein-coupled receptor F3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1314157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1305868 Adgrf3 adhesion G protein-coupled receptor F3 gene DOID:630 genetic disease ISO RGD:1314157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:1344717 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:7240710 20150701 OMIM 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:23383720|PMID:25326635|PMID:25590979|PMID:25741868|PMID:26539891|PMID:26640146|PMID:26647312|PMID:27075689|PMID:27901041|PMID:28100473|PMID:28492532|PMID:29305346|PMID:29367179|PMID:29628764|PMID:30564305|PMID:31180560|PMID:32581362|PMID:32860008 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1344717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:1059 intellectual disability ISO RGD:1344717 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:31180560 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:1826 epilepsy ISO RGD:1344717 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:630 genetic disease ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23383720|PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:29628764|PMID:31180560 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344717 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344717 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32581362 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344717 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1305869 Asxl3 ASXL transcriptional regulator 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1344717 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 1305870 Pcdh18 protocadherin 18 gene DOID:630 genetic disease ISO RGD:1314160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314162 D RGD:1549466|PMID:15488762 20150205 RGD 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1314162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1314162 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:2986 IgA glomerulonephritis ISO RGD:1314162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197929 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:630 genetic disease ISO RGD:1314162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314162 D RGD:1549466|PMID:15488762 20150205 RGD protein:increased expression:serum 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:9003281 Spontaneous Abortions ISO RGD:1314162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1305871 Tnfsf13 TNF superfamily member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18423122 1305872 Naalad2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314164 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305872 Naalad2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305872 Naalad2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314164 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305873 Rin2 Ras and Rab interactor 2 gene DOID:630 genetic disease ISO RGD:1314166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305873 Rin2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:7240710 20130221 OMIM 1305873 Rin2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS PMID:19631308|PMID:20424861|PMID:20954239|PMID:24449201|PMID:25741868|PMID:27277385|PMID:28492532|PMID:30769224 1305874 Hdac10 histone deacetylase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1305874 Hdac10 histone deacetylase 10 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314168 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1305874 Hdac10 histone deacetylase 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314168 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1305874 Hdac10 histone deacetylase 10 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314168 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1305874 Hdac10 histone deacetylase 10 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1305874 Hdac10 histone deacetylase 10 gene DOID:1059 intellectual disability ISO RGD:1314168 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305874 Hdac10 histone deacetylase 10 gene DOID:630 genetic disease ISO RGD:1314168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305875 Med28 mediator complex subunit 28 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354293 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1305875 Med28 mediator complex subunit 28 gene DOID:630 genetic disease ISO RGD:1354293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305875 Med28 mediator complex subunit 28 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 1305875 Med28 mediator complex subunit 28 gene DOID:9008939 Breast Neoplasms ISO RGD:1354293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 1305876 Sirt7 sirtuin 7 gene DOID:418 systemic scleroderma ISO RGD:1314170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25707573 1305876 Sirt7 sirtuin 7 gene DOID:630 genetic disease ISO RGD:1314170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305876 Sirt7 sirtuin 7 gene DOID:9004009 Reperfusion Injury ISO RGD:1314170 D RGD:11554173 20180515 CTD CTD Direct Evidence: therapeutic PMID:28675767 1305876 Sirt7 sirtuin 7 gene DOID:9452 fatty liver disease ISO RGD:1314170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24210820 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:7240710 20191106 OMIM 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:12573255|PMID:12624138|PMID:16199547|PMID:16990043|PMID:17576681|PMID:17998446|PMID:19650410|PMID:19763152|PMID:20232353|PMID:20307669|PMID:22406018|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30809705|PMID:3100754|PMID:34349725|PMID:6450420|PMID:9536098 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3391615 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314172 D RGD:1599248|PMID:12573255 20070122 RGD mucopolysaccharidosis type IIID (OMIM:252940) 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:17576681|PMID:20232353|PMID:25741868|PMID:28492532|PMID:9536098 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:12849 autistic disorder ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 1305877 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305878 Gtpbp10 GTP binding protein 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:36947605 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305878 Gtpbp10 GTP binding protein 10 gene DOID:630 genetic disease ISO RGD:36947605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:0050868 hepatocellular adenoma IEP D RGD:9586718|PMID:23912631 20141002 RGD mRNA,protein:increased expression:liver: 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:0060075 estrogen-receptor positive breast cancer disease_progression ISO RGD:1314176 D RGD:9586721|PMID:23887673 20141002 RGD protein:increased expression:breast: 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1314176 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:2841 asthma IEP D RGD:9491823|PMID:20423833 20140912 RGD mRNA:decreased expression:lung 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1314176 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1314176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:9586718|PMID:23912631 20141002 RGD mRNA,protein:increased expression:liver: 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1314176 D RGD:2293206|PMID:15221992 20080521 RGD protein:increased expression:prostate gland 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:8893 psoriasis ISO RGD:1314176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 1305879 Carm1 coactivator-associated arginine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314176 D RGD:2293206|PMID:15221992 20080521 RGD protein:increased expression:prostate gland 1305881 Cmpk2 cytidine/uridine monophosphate kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1602074 D RGD:5133255|PMID:20136355 20110609 RGD mRNA:altered expression:PMN cell (human) 1305881 Cmpk2 cytidine/uridine monophosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1602074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305882 Gpr107 G protein-coupled receptor 107 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305882 Gpr107 G protein-coupled receptor 107 gene DOID:630 genetic disease ISO RGD:1314180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305883 Pcnx2 pecanex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605048 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305883 Pcnx2 pecanex 2 gene DOID:630 genetic disease ISO RGD:1605048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305883 Pcnx2 pecanex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605048 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305884 Med13l mediator complex subunit 13L gene DOID:0060041 autism spectrum disorder ISO RGD:1314183 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:30504930 1305884 Med13l mediator complex subunit 13L gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1314183 D RGD:1580649|PMID:14638541 19990101 RGD 1305884 Med13l mediator complex subunit 13L gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1314183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped PMID:14638541|PMID:16199547|PMID:17576681|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:27824329|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28554332|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:29959045|PMID:31785789|PMID:5167861|PMID:9536098 1305884 Med13l mediator complex subunit 13L gene DOID:1059 intellectual disability ISO RGD:1314183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1305884 Med13l mediator complex subunit 13L gene DOID:1059 intellectual disability ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23403903|PMID:25167861|PMID:25741868|PMID:28492532|PMID:29511999 1305884 Med13l mediator complex subunit 13L gene DOID:540 strabismus ISO RGD:1314183 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 1305884 Med13l mediator complex subunit 13L gene DOID:630 genetic disease ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738880|PMID:14638541|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25758992|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:5167861 1305884 Med13l mediator complex subunit 13L gene DOID:9003837 Au-Kline Syndrome ISO RGD:1314183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 1305884 Med13l mediator complex subunit 13L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314183 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1305884 Med13l mediator complex subunit 13L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314183 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305884 Med13l mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:7240710 20190315 OMIM 1305884 Med13l mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ASADOLLAHI-RAUCH SYNDROME | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder PMID:14638541|PMID:22542183|PMID:24781760|PMID:24896178|PMID:25167861|PMID:25712080|PMID:25741868|PMID:25741869|PMID:25758992|PMID:28492532|PMID:28554332|PMID:28645799|PMID:28708303|PMID:29511999|PMID:30504930|PMID:31785789 1305884 Med13l mediator complex subunit 13L gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314183 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1305884 Med13l mediator complex subunit 13L gene DOID:9008086 Developmental Disabilities ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:28492532|PMID:31785789 1305884 Med13l mediator complex subunit 13L gene DOID:9620 vesicoureteral reflux ISO RGD:1314183 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 1305885 Sult1c2a sulfotransferase family 1C member 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1314184 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1305885 Sult1c2a sulfotransferase family 1C member 2A gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1314184 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 1305885 Sult1c2a sulfotransferase family 1C member 2A gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1314184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 1305885 Sult1c2a sulfotransferase family 1C member 2A gene DOID:630 genetic disease ISO RGD:1314184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305885 Sult1c2a sulfotransferase family 1C member 2A gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1314184 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 1305886 Sh3glb2 SH3 domain-containing GRB2-like endophilin B2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305886 Sh3glb2 SH3 domain-containing GRB2-like endophilin B2 gene DOID:630 genetic disease ISO RGD:1314186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305887 Tubb6 tubulin, beta 6 class V gene DOID:0050944 spastic ataxia 5 ISO RGD:1343714 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 1305887 Tubb6 tubulin, beta 6 class V gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1343714 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 1305887 Tubb6 tubulin, beta 6 class V gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343714 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1305887 Tubb6 tubulin, beta 6 class V gene DOID:0080840 optic atrophy 12 ISO RGD:1343714 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868 1305887 Tubb6 tubulin, beta 6 class V gene DOID:1059 intellectual disability ISO RGD:1343714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305887 Tubb6 tubulin, beta 6 class V gene DOID:543 dystonia ISO RGD:1343714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1305887 Tubb6 tubulin, beta 6 class V gene DOID:630 genetic disease ISO RGD:1343714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305887 Tubb6 tubulin, beta 6 class V gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305887 Tubb6 tubulin, beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:7240710 20190315 OMIM 1305887 Tubb6 tubulin, beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction PMID:25741868|PMID:29016863 1305888 Hs6st3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1314189 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1305888 Hs6st3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1314189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305888 Hs6st3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314189 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1305889 Polr3h RNA polymerase III subunit H gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1305889 Polr3h RNA polymerase III subunit H gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:1314191 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:29564393|PMID:30689204|PMID:31130284|PMID:32519519 1305889 Polr3h RNA polymerase III subunit H gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314191 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1305889 Polr3h RNA polymerase III subunit H gene DOID:0111442 optic atrophy 9 ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:32449285|PMID:34056600 1305889 Polr3h RNA polymerase III subunit H gene DOID:5426 primary ovarian insufficiency ISS RGD:1314192 D RGD:13592920 20210520 MouseDO 1305889 Polr3h RNA polymerase III subunit H gene DOID:630 genetic disease ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:9536098 1305890 Oaf out at first homolog gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1305890 Oaf out at first homolog gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1305890 Oaf out at first homolog gene DOID:0080690 RASopathy ISO RGD:1602422 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305890 Oaf out at first homolog gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1305890 Oaf out at first homolog gene DOID:0111971 immunodeficiency 18 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1305890 Oaf out at first homolog gene DOID:0111972 immunodeficiency 19 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1305890 Oaf out at first homolog gene DOID:0111973 immunodeficiency 17 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1305890 Oaf out at first homolog gene DOID:5419 schizophrenia ISO RGD:1602422 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305890 Oaf out at first homolog gene DOID:630 genetic disease ISO RGD:1602422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305890 Oaf out at first homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602422 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305890 Oaf out at first homolog gene DOID:9007661 Dwarfism ISO RGD:1602422 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305891 Pwwp2a PWWP domain containing 2A gene DOID:630 genetic disease ISO RGD:1642916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305892 Spire1 spire-type actin nucleation factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1354236 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1305892 Spire1 spire-type actin nucleation factor 1 gene DOID:1059 intellectual disability ISO RGD:1354236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305892 Spire1 spire-type actin nucleation factor 1 gene DOID:543 dystonia ISO RGD:1354236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1305892 Spire1 spire-type actin nucleation factor 1 gene DOID:630 genetic disease ISO RGD:1354236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305894 Tcf7 transcription factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305894 Tcf7 transcription factor 7 gene DOID:10283 prostate cancer severity ISO RGD:1314197 D RGD:13506820|PMID:28220803 20180220 RGD 1305894 Tcf7 transcription factor 7 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1314197 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1305894 Tcf7 transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305894 Tcf7 transcription factor 7 gene DOID:8778 Crohn's disease ISO RGD:1314197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24994854 1305894 Tcf7 transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314197 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305894 Tcf7 transcription factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305894 Tcf7 transcription factor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1352197 D RGD:152995256|PMID:27366209 20220609 RGD DNA:amplification:cds: (human) 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352197 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:5419 schizophrenia ISO RGD:1352197 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:630 genetic disease ISO RGD:1352197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1352197 D RGD:152995256|PMID:27366209 20220609 RGD DNA:amplification:cds: (human, male) 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:9000918 Disease Progression ISO RGD:1352197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1305895 Abca13 ATP binding cassette subfamily A member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1305896 Lrp2bp Lrp2 binding protein gene DOID:12849 autistic disorder ISO RGD:1601755 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305896 Lrp2bp Lrp2 binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1601755 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1305896 Lrp2bp Lrp2 binding protein gene DOID:630 genetic disease ISO RGD:1601755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305896 Lrp2bp Lrp2 binding protein gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1601755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1305897 Mrrf mitochondrial ribosome recycling factor gene DOID:2661 myoepithelioma ISO RGD:1314201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1305897 Mrrf mitochondrial ribosome recycling factor gene DOID:630 genetic disease ISO RGD:1314201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305898 Bend7 BEN domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314203 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305898 Bend7 BEN domain containing 7 gene DOID:630 genetic disease ISO RGD:1314203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305899 Tcfl5 transcription factor like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305899 Tcfl5 transcription factor like 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1305899 Tcfl5 transcription factor like 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305899 Tcfl5 transcription factor like 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1348705 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1305899 Tcfl5 transcription factor like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1305899 Tcfl5 transcription factor like 5 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348705 D RGD:8554872 20180227 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant 1305899 Tcfl5 transcription factor like 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348705 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1305899 Tcfl5 transcription factor like 5 gene DOID:1826 epilepsy ISO RGD:1348705 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1305899 Tcfl5 transcription factor like 5 gene DOID:630 genetic disease ISO RGD:1348705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305900 Spart spartin gene DOID:0050753 cerebellar ataxia ISO RGD:1314206 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868 1305900 Spart spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:7240710 20130221 OMIM 1305900 Spart spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:12134148|PMID:18413476|PMID:20437587|PMID:20504295|PMID:23699601|PMID:25558065|PMID:25741868|PMID:26003402|PMID:26467025|PMID:27112432|PMID:28492532|PMID:28679690 1305900 Spart spartin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23699601|PMID:25741868|PMID:26467025|PMID:28492532 1305900 Spart spartin gene DOID:4914 esophagus adenocarcinoma ISO RGD:1314206 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 1305900 Spart spartin gene DOID:630 genetic disease ISO RGD:1314206 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:26003402|PMID:27112432|PMID:28492532 1305901 Cstf3 cleavage stimulation factor subunit 3 gene DOID:1059 intellectual disability ISO RGD:1314208 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305901 Cstf3 cleavage stimulation factor subunit 3 gene DOID:630 genetic disease ISO RGD:1314208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305902 Kat2b lysine acetyltransferase 2B gene DOID:0060417 3p deletion syndrome ISO RGD:1314209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305902 Kat2b lysine acetyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1314209 D RGD:9586031|PMID:22199269 20141003 RGD mRNA:increased expression:breast (human) 1305902 Kat2b lysine acetyltransferase 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314209 D RGD:9590307|PMID:19525977 20141124 RGD mRNA:decreased expression:esophagus (human) 1305902 Kat2b lysine acetyltransferase 2B gene DOID:630 genetic disease ISO RGD:1314209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305902 Kat2b lysine acetyltransferase 2B gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314209 D RGD:9590314|PMID:23643089 20141124 RGD protein:decreased expression:liver (human) 1305902 Kat2b lysine acetyltransferase 2B gene DOID:7148 rheumatoid arthritis ISO RGD:1314209 D RGD:155791669|PMID:36104638 20230104 RGD mRNA:increased expression:peripheral blood mononuclear cell 1305902 Kat2b lysine acetyltransferase 2B gene DOID:9000528 Coronary Disease severity ISO RGD:1314209 D RGD:9590309|PMID:21062767 20141124 RGD DNA:snp:promoter:g.-2481G>C (human) 1305903 Zfp771 zinc finger protein 771 gene DOID:630 genetic disease ISO RGD:1605390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305904 Epyc epiphycan gene DOID:630 genetic disease ISO RGD:1314212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:1059 intellectual disability ISO RGD:1314214 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:11198 DiGeorge syndrome ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:11372 megacolon ISO RGD:1314214 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:12849 autistic disorder ISO RGD:1314214 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:1826 epilepsy ISO RGD:1314214 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:5419 schizophrenia ISO RGD:1314214 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1314214 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:630 genetic disease ISO RGD:1314214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314214 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305905 Slc7a4 solute carrier family 7, member 4 gene DOID:9007661 Dwarfism ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1305906 Lats2 large tumor suppressor kinase 2 gene DOID:1788 peritoneal mesothelioma ISO RGD:1314216 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 1305906 Lats2 large tumor suppressor kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:1314216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 1305906 Lats2 large tumor suppressor kinase 2 gene DOID:630 genetic disease ISO RGD:1314216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305906 Lats2 large tumor suppressor kinase 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1314216 D RGD:153297782|PMID:32682784 20220726 RGD Human cells in mouse model 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:0050700 cardiomyopathy ISO RGD:1314218 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17576681|PMID:24033266|PMID:25163546|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:9536098 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314218 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314218 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:2843 long QT syndrome ISO RGD:1314218 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1305907 Taf10 TATA-box binding protein associated factor 10 gene DOID:630 genetic disease ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314220 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:630 genetic disease ISO RGD:1314220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314220 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305908 Tnfaip8 TNF alpha induced protein 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1305909 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0080600 COVID-19 ISO RGD:1314222 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1305909 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111546 Currarino syndrome ISO RGD:1314222 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1305909 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314222 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1305909 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:5844 myocardial infarction treatment ISO RGD:1314223 D RGD:13801194|PMID:24692845 20181105 RGD 1305909 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:630 genetic disease ISO RGD:1314222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305909 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:9003631 Diastolic Dysfunction IEP D RGD:13801193|PMID:26790384 20181105 RGD associated with obesity;mRNA, protein:decreased expression:myocardium 1305910 Sorcs1 sortilin-related VPS10 domain containing receptor 1 gene DOID:0110038 Alzheimer's disease 6 ISO RGD:1314224 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alzheimer disease 6 PMID:19241460|PMID:21280075|PMID:25741868 1305910 Sorcs1 sortilin-related VPS10 domain containing receptor 1 gene DOID:10283 prostate cancer ISO RGD:1314224 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305910 Sorcs1 sortilin-related VPS10 domain containing receptor 1 gene DOID:576 proteinuria IMP D RGD:12910977|PMID:23780848 20191003 RGD associated with hypertension 1305910 Sorcs1 sortilin-related VPS10 domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1314224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23423674 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:7240710 20130731 OMIM 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDNIK syndrome PMID:1905767|PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:30244301 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:9684947|PMID:19057675 20141210 RGD DNA:mutation:splice junction: 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1314226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23423674 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314226 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19057675|PMID:23423674|PMID:28492532 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1314226 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 1305911 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9455 lipid storage disease ISO RGD:1314226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 1305912 Racgap1 Rac GTPase-activating protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1305912 Racgap1 Rac GTPase-activating protein 1 gene DOID:630 genetic disease ISO RGD:1314228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305912 Racgap1 Rac GTPase-activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314228 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305912 Racgap1 Rac GTPase-activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:7240710 20220330 OMIM 1305912 Racgap1 Rac GTPase-activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive PMID:34818416|PMID:36200420 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1314230 D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32111475 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:7240710 20220126 OMIM 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 63 PMID:32111475 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:10283 prostate cancer ISO RGD:1314230 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:630 genetic disease ISO RGD:1314230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1305913 Rpl10l1 ribosomal protein L10 like 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1314230 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0050336 hypophosphatemia ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0050568 spondylocostal dysostosis ISS RGD:1314231 D RGD:13592920 20180518 MouseDO OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0060249 scoliosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0080006 bone development disease ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1314231 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:18775957 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:7240710 20130221 OMIM 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive PMID:18775957|PMID:20087400|PMID:23897666|PMID:25741868|PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:10907 microcephaly ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:11502 mitral valve insufficiency ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:12177 common variable immunodeficiency ISO RGD:1314231 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:2340 craniosynostosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:9003430 Sprengel Deformity ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1314231 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1305914 Hes7 hes family bHLH transcription factor 7 gene DOID:9007661 Dwarfism ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 1305915 Armc10 armadillo repeat containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605608 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305915 Armc10 armadillo repeat containing 10 gene DOID:630 genetic disease ISO RGD:1605608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305917 Npbwr1 neuropeptides B and W receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314235 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305917 Npbwr1 neuropeptides B and W receptor 1 gene DOID:630 genetic disease ISO RGD:1314235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305919 Zfp213 zinc finger protein 213 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1305919 Zfp213 zinc finger protein 213 gene DOID:1826 epilepsy ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305919 Zfp213 zinc finger protein 213 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314237 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305919 Zfp213 zinc finger protein 213 gene DOID:630 genetic disease ISO RGD:1314237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305920 Ttc7b tetratricopeptide repeat domain 7B gene DOID:0080054 achondrogenesis type IA ISO RGD:1314238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1305920 Ttc7b tetratricopeptide repeat domain 7B gene DOID:630 genetic disease ISO RGD:1314238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305921 Pkn3 protein kinase N3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305921 Pkn3 protein kinase N3 gene DOID:630 genetic disease ISO RGD:1314240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:151361292|PMID:24633157 20220302 RGD DNA:mutations:multiple (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:151665099|PMID:26440310 20220310 RGD DNA:mutation:multiple (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:151660356|PMID:33900414 20220307 RGD protein:increased expression:brain (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:151660368|PMID:16923162 20220307 RGD human cell in mouse model 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:0080199 colorectal carcinoma ISO RGD:1314242 D RGD:151361283|PMID:31040266 20220302 RGD associated with metastasis; human cells in mouse model 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:1115 sarcoma treatment ISO RGD:1314242 D RGD:151660332|PMID:31089155 20220303 RGD 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:14400 capillary leak syndrome treatment ISO RGD:1552328 D RGD:151660353|PMID:31348125 20220307 RGD mouse tumor cells in mouse recipient 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3068 glioblastoma ISO RGD:1314242 D RGD:151660507|PMID:14692702 20220307 RGD protein:increased expression:brain (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3068 glioblastoma ISO RGD:1314242 D RGD:151664746|PMID:15831233 20220309 RGD protein:increased expression:brain (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3068 glioblastoma treatment ISO RGD:1314242 D RGD:151660504|PMID:16489031 20220307 RGD human cells in mouse model 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3307 teratoma ISO RGD:1552328 D RGD:151660354|PMID:23575676 20220307 RGD 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3347 osteosarcoma disease_progression ISO RGD:1314242 D RGD:151361289|PMID:31829261 20220302 RGD mRNA:decreased expression:bone (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1314242 D RGD:151660329|PMID:32663515 20220303 RGD protein:decreased expression:blood (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314242 D RGD:151361281|PMID:27314562 20220302 RGD human cells in mouse model 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1314242 D RGD:151361281|PMID:27314562 20220302 RGD mRNA:decreased expression:lung (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3910 lung adenocarcinoma ISO RGD:1314242 D RGD:151665112|PMID:7981622 20220310 RGD mRNA:decreased expression:lung (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314242 D RGD:151665107|PMID:29254206 20220310 RGD mRNA:altered expression:lung (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1314242 D RGD:151665104|PMID:32626543 20220310 RGD 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:4511 breast angiosarcoma ISO RGD:1314242 D RGD:151665102|PMID:32123305 20220310 RGD DNA:mutation:multiple (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:630 genetic disease ISO RGD:1314242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314242 D RGD:151361293|PMID:30237408 20220302 RGD mRNA:decreased expression:liver (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1552328 D RGD:151660352|PMID:23899555 20220307 RGD 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1314242 D RGD:151660336|PMID:25105010 20220303 RGD mRNA:decreased expression:lung (human) 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:9006618 Liver Metastasis treatment ISO RGD:1552328 D RGD:151660353|PMID:31348125 20220307 RGD mouse tumor cells in mouse recipient 1305922 Ptprb protein tyrosine phosphatase, receptor type, B gene DOID:9009121 lung metastasis treatment ISO RGD:1552328 D RGD:151660352|PMID:23899555 20220307 RGD 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:7240710 20170215 OMIM 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 PMID:23375655|PMID:24621671|PMID:25741868 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1314247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:630 genetic disease ISO RGD:1314247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:7240710 20221130 OMIM 1305926 Slc24a4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR PMID:17952075 1305928 Spmip11 sperm microtubule inner protein 11 gene DOID:630 genetic disease ISO RGD:7245055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305928 Spmip11 sperm microtubule inner protein 11 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:7245055 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:24319099 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation ISO RGD:1314251 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation ISO RGD:1314251 D RGD:1358458|PMID:14755725 20110705 RGD 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation ISO RGD:1314251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:10508515|PMID:10545614|PMID:10814716|PMID:11161805|PMID:11222804|PMID:11914398|PMID:11941540|PMID:11959162|PMID:12404106|PMID:12810002|PMID:12854741|PMID:14755725|PMID:15079030|PMID:16199547|PMID:16321204|PMID:16571644|PMID:17277691|PMID:17440989|PMID:17576681|PMID:18300272|PMID:18380023|PMID:18383588|PMID:19088123|PMID:19099113|PMID:19454328|PMID:19763152|PMID:20301470|PMID:20306072|PMID:20307669|PMID:20419355|PMID:21029238|PMID:22406018|PMID:23584803|PMID:23595507|PMID:24401931|PMID:24466005|PMID:24689081|PMID:24721395|PMID:25525159|PMID:25525273|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26682556|PMID:27766163|PMID:27792856|PMID:28000143|PMID:28492532|PMID:28645800|PMID:28745674|PMID:28867399|PMID:29593473|PMID:30161288|PMID:31124307|PMID:31254430|PMID:33891857|PMID:33911302|PMID:3393196|PMID:34634677|PMID:34964173|PMID:7898703|PMID:9065560|PMID:9536098 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1314251 D RGD:1598379|PMID:15079030 20070129 RGD 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:7240710 20190227 OMIM 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:10508515|PMID:10545614|PMID:10814716|PMID:11222804|PMID:11914398|PMID:11941540|PMID:12404106|PMID:12854741|PMID:14755725|PMID:16571644|PMID:17562932|PMID:19088123|PMID:19454328|PMID:20301470|PMID:24401931|PMID:24689081|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29593473|PMID:3393196|PMID:7898703|PMID:9065560 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:1826 epilepsy ISO RGD:1314251 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:2843 long QT syndrome ISO RGD:1314251 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:483 cavernous hemangioma ISO RGD:1314251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24466005|PMID:24689081|PMID:25741868|PMID:28492532 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314251 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:630 genetic disease ISO RGD:1314251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25525273|PMID:25741868|PMID:28492532|PMID:9536098 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:8725 vascular dementia ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:20419355|PMID:25525273|PMID:25741868|PMID:26467025|PMID:28492532 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:9002924 Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations ISO RGD:1314251 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations PMID:10814716 1305929 Krit1 KRIT1, ankyrin repeat containing gene DOID:9008078 Cavernous Malformations of CNS and Retina ISO RGD:1314251 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Cavernous malformations of CNS and retina PMID:11831930 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:3652 Leigh disease ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:630 genetic disease ISO RGD:1314253 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 1305930 Entr1 endosome associated trafficking regulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1305931 Abca9 ATP binding cassette subfamily A member 9 gene DOID:630 genetic disease ISO RGD:1314254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305931 Abca9 ATP binding cassette subfamily A member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1305932 Nccrp1 NCCRP1, F-box associated domain containing gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1305932 Nccrp1 NCCRP1, F-box associated domain containing gene DOID:630 genetic disease ISO RGD:1602046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305932 Nccrp1 NCCRP1, F-box associated domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1305933 Pald1 phosphatase domain containing, paladin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1346451 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 1305933 Pald1 phosphatase domain containing, paladin 1 gene DOID:630 genetic disease ISO RGD:1346451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305933 Pald1 phosphatase domain containing, paladin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1346451 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 1305937 Rbm15b RNA binding motif protein 15B gene DOID:630 genetic disease ISO RGD:1350628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305938 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604481 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305939 Fam227a family with sequence similarity 227, member A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1305939 Fam227a family with sequence similarity 227, member A gene DOID:0090036 myoclonic dystonia 26 ISO RGD:6767369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305939 Fam227a family with sequence similarity 227, member A gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305939 Fam227a family with sequence similarity 227, member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1305939 Fam227a family with sequence similarity 227, member A gene DOID:630 genetic disease ISO RGD:6767369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305941 Plcl2 phospholipase C-like 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1314267 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305941 Plcl2 phospholipase C-like 2 gene DOID:5419 schizophrenia ISO RGD:1314267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1305942 Rai14 retinoic acid induced 14 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 1305942 Rai14 retinoic acid induced 14 gene DOID:630 genetic disease ISO RGD:1314269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305942 Rai14 retinoic acid induced 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314269 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305944 Mrm2 mitochondrial rRNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305944 Mrm2 mitochondrial rRNA methyltransferase 2 gene DOID:9005661 Mitochondrial DNA Depletion Syndrome 17 ISO RGD:1314273 D RGD:7240710 20190911 OMIM 1305944 Mrm2 mitochondrial rRNA methyltransferase 2 gene DOID:9005661 Mitochondrial DNA Depletion Syndrome 17 ISO RGD:1314273 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 17 PMID:28973171 1305945 Slamf9 SLAM family member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1305945 Slamf9 SLAM family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1314275 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305945 Slamf9 SLAM family member 9 gene DOID:630 genetic disease ISO RGD:1314275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305945 Slamf9 SLAM family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305945 Slamf9 SLAM family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314275 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305947 Ift57 intraflagellar transport 57 gene DOID:12858 Huntington's disease ISO RGD:1314280 D RGD:13432581|PMID:25989602 20171002 RGD protein:altered localization:cilia 1305947 Ift57 intraflagellar transport 57 gene DOID:630 genetic disease ISO RGD:1314279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305947 Ift57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:7240710 20190315 OMIM 1305947 Ift57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 18 PMID:25741868|PMID:27060890|PMID:28492532|PMID:32860008 1305948 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:0050770 polycystic liver disease ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 1305948 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314281 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1305948 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1314281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305948 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1314281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314283 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314283 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:1059 intellectual disability ISO RGD:1314283 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:630 genetic disease ISO RGD:1314283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305949 Zbed4 zinc finger, BED-type containing 4 gene DOID:9007661 Dwarfism ISO RGD:1314283 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1314284 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151713 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198 1305950 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0060319 cardiac arrest ISO RGD:1314284 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25741868|PMID:28492532|PMID:33035702 1305950 Mybpc3 myosin binding protein C3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:14563344|PMID:15519027|PMID:16061003|PMID:16352453|PMID:17560888|PMID:18533079|PMID:18929575|PMID:19574547|PMID:19666645|PMID:19808356|PMID:20019025|PMID:20031619|PMID:20045868|PMID:20624503|PMID:21511876|PMID:21939669|PMID:22115648|PMID:22361390|PMID:22455086|PMID:23140321|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23674513|PMID:23711808|PMID:23740383|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25163546|PMID:25351510|PMID:25611685|PMID:25741868|PMID:25856671|PMID:26090888|PMID:26163040|PMID:27532257|PMID:27841901|PMID:28031081|PMID:28193612|PMID:28202948|PMID:28323875|PMID:28492532|PMID:28518168|PMID:28679633|PMID:29121657|PMID:29398688|PMID:29555771|PMID:29907873|PMID:30297972|PMID:31699567|PMID:31918855|PMID:32492895|PMID:33035702 1305950 Mybpc3 myosin binding protein C3 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 1305950 Mybpc3 myosin binding protein C3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 1305950 Mybpc3 myosin binding protein C3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241277|PMID:11815426|PMID:23896226 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:1580234|PMID:16004897 19990101 RGD DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human) 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:1580237|PMID:12110947 19990101 RGD DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:1580238|PMID:9562578 19990101 RGD DNA:missense mutations, nonsense mutations: :multiple 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:1580239|PMID:9048664 19990101 RGD DNA:nonsense mutations: :multiple 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form PMID:18403758|PMID:18761664|PMID:20378854|PMID:23549607|PMID:24033266|PMID:25228707|PMID:25326637|PMID:25335496|PMID:27532257|PMID:28420666|PMID:28492532|PMID:30924982|PMID:31006259 1305950 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:7240710 20140911 OMIM 1305950 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24793961|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465 1305950 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31199839|PMID:31219556|PMID:31323898|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31699567|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32396390|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34540771|PMID:34935411|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:15519027|PMID:18533079|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:7240710 20130425 OMIM 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15856146|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20605413|PMID:20624503|PMID:20641121|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29511324|PMID:29517769|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34008892|PMID:34088380|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25326637|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 1305950 Mybpc3 myosin binding protein C3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:10610770|PMID:12110947|PMID:12117842|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16199542|PMID:16651346|PMID:16831826|PMID:16858239|PMID:17576681|PMID:18403758|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19035361|PMID:19150014|PMID:19574547|PMID:20378854|PMID:20433692|PMID:2073894|PMID:20738943|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21835320|PMID:21839045|PMID:22057632|PMID:22267749|PMID:22765922|PMID:22857948|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24774285|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26822237|PMID:27483260|PMID:27532257|PMID:28492532|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:29030401|PMID:29121657|PMID:29511324|PMID:29790872|PMID:30609409|PMID:30645170|PMID:31006259|PMID:31447099|PMID:31514951|PMID:32686758|PMID:32731933|PMID:32841044|PMID:9048664|PMID:9536098|PMID:9631872 1305950 Mybpc3 myosin binding protein C3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314284 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 1305950 Mybpc3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073 1305950 Mybpc3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:31447099|PMID:32686758|PMID:33258288 1305950 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:22076249|PMID:23816408|PMID:25566086|PMID:27994558 1305950 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:1580233|PMID:15737656 19990101 RGD DNA:polymorphism:exon:18443A>G (human) 1305950 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:1580235|PMID:15519027 19990101 RGD DNA:mutations: :multiple 1305950 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17643520|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19406073|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19763152|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708 1305950 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29415625|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29631964|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737 1305950 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35508642|PMID:35535697|PMID:35626289|PMID:397516074|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806 1305950 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:33673806|PMID:33782553 1305950 Mybpc3 myosin binding protein C3 gene DOID:3322 GM1 gangliosidosis ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLB1 deficiency PMID:18403758|PMID:18761664|PMID:20378854|PMID:23549607|PMID:24033266|PMID:25228707|PMID:25326637|PMID:25335496|PMID:27532257|PMID:28420666|PMID:28492532|PMID:30924982|PMID:31006259 1305950 Mybpc3 myosin binding protein C3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:16858239|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:20800588|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28840316|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232|PMID:31941943 1305950 Mybpc3 myosin binding protein C3 gene DOID:574 peripheral nervous system disease ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 1305950 Mybpc3 myosin binding protein C3 gene DOID:630 genetic disease ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17937428|PMID:18258667|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:21750094|PMID:21835286|PMID:23054336|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25635128|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28214152|PMID:28492532|PMID:29121657|PMID:29212898|PMID:30297972|PMID:30847666|PMID:31447099|PMID:32880476|PMID:7493025 1305950 Mybpc3 myosin binding protein C3 gene DOID:870 neuropathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 1305950 Mybpc3 myosin binding protein C3 gene DOID:9000299 cardiac amyloidosis ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12707239|PMID:12818575|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18258667|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21310275|PMID:21551322|PMID:21839045|PMID:21959974|PMID:22267749|PMID:22386539|PMID:22563033|PMID:22589294|PMID:22958901|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25132132|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27831900|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28679633|PMID:29121657|PMID:29875424|PMID:30316040|PMID:30471092|PMID:30611859|PMID:30847666|PMID:30924982|PMID:31006259|PMID:31333075|PMID:31447099|PMID:31568572|PMID:31980526|PMID:32686758|PMID:32841044|PMID:33495597|PMID:34426522|PMID:34540771|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:9000590 Dyspnea ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:17576681|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 1305950 Mybpc3 myosin binding protein C3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1314284 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868 1305950 Mybpc3 myosin binding protein C3 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1314284 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:34137518|PMID:9536098 1305950 Mybpc3 myosin binding protein C3 gene DOID:9002554 Tachycardia ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:17576681|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 1305950 Mybpc3 myosin binding protein C3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 1305950 Mybpc3 myosin binding protein C3 gene DOID:9003163 Heart Block ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar Annotator: match by term: Heart block PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:20433692|PMID:20800588|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:2943217|PMID:30645170|PMID:30775854|PMID:34137518|PMID:9536098 1305950 Mybpc3 myosin binding protein C3 gene DOID:9003936 Cardiomegaly ISO RGD:1314284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22189562 1305950 Mybpc3 myosin binding protein C3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:16754800|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18957093|PMID:19574547|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21409595|PMID:21415409|PMID:21551322|PMID:21985754|PMID:22173300|PMID:22337857|PMID:22455086|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24774606|PMID:24795128|PMID:25031304|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26223264|PMID:26271555|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:29121657|PMID:29686099|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:33673806 1305950 Mybpc3 myosin binding protein C3 gene DOID:9006205 Animal Disease Models ISO RGD:1314284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25566086 1305950 Mybpc3 myosin binding protein C3 gene DOID:9007 sudden infant death syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:30165862|PMID:31028938|PMID:9048664|PMID:9562578 1305950 Mybpc3 myosin binding protein C3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17576681|PMID:20045868|PMID:20433692|PMID:20435227|PMID:20800588|PMID:23283745|PMID:23782526|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:9536098 1305950 Mybpc3 myosin binding protein C3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:7493025 1305950 Mybpc3 myosin binding protein C3 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:12818575|PMID:14563344|PMID:15114369|PMID:15519027|PMID:20215591|PMID:22194935|PMID:22958901|PMID:23299917|PMID:23418287|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:29367541|PMID:29540472|PMID:32880476 1305950 Mybpc3 myosin binding protein C3 gene DOID:9007820 Sudden Death ISO RGD:1314284 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 1305950 Mybpc3 myosin binding protein C3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314286 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314286 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1314286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1314286 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1305951 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314286 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305952 Sh2d5 SH2 domain containing 5 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1305952 Sh2d5 SH2 domain containing 5 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1305952 Sh2d5 SH2 domain containing 5 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1305952 Sh2d5 SH2 domain containing 5 gene DOID:630 genetic disease ISO RGD:1602949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305952 Sh2d5 SH2 domain containing 5 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0080690 RASopathy ISO RGD:1314288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1305953 Rnf26 ring finger protein 26 gene DOID:5419 schizophrenia ISO RGD:1314288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305953 Rnf26 ring finger protein 26 gene DOID:630 genetic disease ISO RGD:1314288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305953 Rnf26 ring finger protein 26 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314288 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1305953 Rnf26 ring finger protein 26 gene DOID:9007661 Dwarfism ISO RGD:1314288 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1305954 Gtpbp6 GTP binding protein 6 (putative) gene DOID:12849 autistic disorder ISO RGD:1353569 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305955 Pop4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1314291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305955 Pop4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 1305956 Tdrd6 tudor domain containing 6 gene DOID:2843 long QT syndrome ISO RGD:1314293 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1305956 Tdrd6 tudor domain containing 6 gene DOID:630 genetic disease ISO RGD:1314293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:14330 Parkinson's disease ISO RGD:1346409 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:1826 epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:630 genetic disease ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1346409 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:9004367 Autosomal Recessive Infantile Epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 1305957 Tnk2 tyrosine kinase, non-receptor, 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1346409 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1305958 Mtmr10 myotubularin related protein 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 1305958 Mtmr10 myotubularin related protein 10 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1606536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 1305958 Mtmr10 myotubularin related protein 10 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1606536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351 1305958 Mtmr10 myotubularin related protein 10 gene DOID:12849 autistic disorder ISO RGD:1606536 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305958 Mtmr10 myotubularin related protein 10 gene DOID:5419 schizophrenia ISO RGD:1606536 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1305958 Mtmr10 myotubularin related protein 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606536 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 1305958 Mtmr10 myotubularin related protein 10 gene DOID:630 genetic disease ISO RGD:1606536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305958 Mtmr10 myotubularin related protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606536 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305958 Mtmr10 myotubularin related protein 10 gene DOID:9256 colorectal cancer ISO RGD:1606536 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1606451 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis PMID:25741868 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:7240710 20130221 OMIM 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:15122512|PMID:18485326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9242490 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1606451 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1606451 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1305959 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1606451 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305960 Txndc12 thioredoxin domain containing 12 gene DOID:630 genetic disease ISO RGD:1606291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305961 Cyria CYFIP related Rac1 interactor A gene DOID:5723 optic atrophy ISO RGD:1348694 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 1305961 Cyria CYFIP related Rac1 interactor A gene DOID:630 genetic disease ISO RGD:1348694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305961 Cyria CYFIP related Rac1 interactor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348694 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305962 Plxdc2 plexin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1314300 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 1305962 Plxdc2 plexin domain containing 2 gene DOID:630 genetic disease ISO RGD:1314300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1314302 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:5812 MHC class II deficiency ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314302 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305963 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:9970 obesity ISO RGD:1314302 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1314304 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1314304 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1314304 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31727539 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1314304 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1314304 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0110994 Joubert syndrome 25 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0111934 immunodeficiency 38 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:0111935 immunodeficiency 16 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314304 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:630 genetic disease ISO RGD:1314304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33023636 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9000870 PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ISO RGD:1314304 D RGD:7240710 20200819 OMIM 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9000870 PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ISO RGD:1314304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal PMID:25741868|PMID:29053797|PMID:29053800|PMID:31727539 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21584487 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314304 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1314304 D RGD:7240710 20190315 OMIM 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1314304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome PMID:25741868|PMID:27640307|PMID:28492532 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1314304 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1305964 Atad3a ATPase family, AAA domain containing 3A gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1314304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1305965 Nck2 NCK adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:1314306 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 1305965 Nck2 NCK adaptor protein 2 gene DOID:1184 nephrotic syndrome ISO RGD:1314306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 1305965 Nck2 NCK adaptor protein 2 gene DOID:576 proteinuria ISO RGD:1314306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 1305965 Nck2 NCK adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1314306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305965 Nck2 NCK adaptor protein 2 gene DOID:9001542 Albuminuria ISO RGD:1314306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 1305966 Klf16 KLF transcription factor 16 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1305966 Klf16 KLF transcription factor 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1305966 Klf16 KLF transcription factor 16 gene DOID:630 genetic disease ISO RGD:1314308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305966 Klf16 KLF transcription factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314308 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:0111455 GRACILE syndrome ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:7240710 20190315 OMIM 1305967 Cux2 cut-like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:23020937|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29630738|PMID:29795476 1305967 Cux2 cut-like homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1314310 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:2224 essential thrombocythemia ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:20404132|PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:4971 myelofibrosis ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:630 genetic disease ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:687 hepatoblastoma ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 1305967 Cux2 cut-like homeobox 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1314310 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:0080600 COVID-19 ISO RGD:1314312 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:630 genetic disease ISO RGD:1314312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:9119 acute myeloid leukemia ISO RGD:1314312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17708794 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305968 Chmp5 charged multivesicular body protein 5 gene DOID:9870 galactosemia ISO RGD:1314312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1305969 Vps4b vacuolar protein sorting 4 homolog B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314314 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1305969 Vps4b vacuolar protein sorting 4 homolog B gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1314314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1305969 Vps4b vacuolar protein sorting 4 homolog B gene DOID:630 genetic disease ISO RGD:1314314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305970 Cd68 Cd68 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1314316 D RGD:42721976|PMID:23557330 20210225 RGD protein:increased expression:lymph node tumor (human) 1305970 Cd68 Cd68 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1305970 Cd68 Cd68 molecule gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1305970 Cd68 Cd68 molecule gene DOID:0080600 COVID-19 ISO RGD:1314316 D RGD:9068941 20200709 RGD mRNA:decreased expression:dendritic cells (human) PMID:32377375|REF_RGD_ID:32716422 1305970 Cd68 Cd68 molecule gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1305970 Cd68 Cd68 molecule gene DOID:10533 viral pneumonia ISO RGD:1314317 D RGD:40925942|PMID:12581500 20210125 RGD mRNA:increased expression:lung,trachea (mouse) 1305970 Cd68 Cd68 molecule gene DOID:11429 endometriosis of pelvic peritoneum ISO RGD:1314316 D RGD:40925932|PMID:19136478 20210122 RGD protein:increased expression:peritoneum (human) 1305970 Cd68 Cd68 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1314316 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1305970 Cd68 Cd68 molecule gene DOID:13254 diverticulitis of colon severity ISO RGD:1314316 D RGD:40925945|PMID:21553154 20210125 RGD associated with steroid use;protein:increased expression:sigmoid colon (human) 1305970 Cd68 Cd68 molecule gene DOID:13619 extrahepatic cholestasis ISO RGD:1314316 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 1305970 Cd68 Cd68 molecule gene DOID:2018 hyperinsulinism ISO RGD:1314316 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1305970 Cd68 Cd68 molecule gene DOID:2043 hepatitis B ISO RGD:1314316 D RGD:40925917|PMID:9699943 20210121 RGD associated with inflammation;protein:increased expression:liver (human) 1305970 Cd68 Cd68 molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1314316 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1305970 Cd68 Cd68 molecule gene DOID:2945 severe acute respiratory syndrome ISO RGD:1314316 D RGD:27372876|PMID:16237152 20200604 RGD protein:increased expression:macrophage, testis (human) 1305970 Cd68 Cd68 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1314316 D RGD:5490168|PMID:19635508 20200527 RGD mRNA, protein:increased expression:lung (human) 1305970 Cd68 Cd68 molecule gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1305970 Cd68 Cd68 molecule gene DOID:326 ischemia ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 1305970 Cd68 Cd68 molecule gene DOID:3965 Merkel cell carcinoma ISO RGD:1314316 D RGD:40925916|PMID:22050913 20210121 RGD protein:increased expression:tumor (human) 1305970 Cd68 Cd68 molecule gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1314316 D RGD:41404655|PMID:22797933 20210129 RGD associated with opioid use;protein:increased expression:brain (human) 1305970 Cd68 Cd68 molecule gene DOID:630 genetic disease ISO RGD:1314316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305970 Cd68 Cd68 molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314316 D RGD:40924686|PMID:28656201 20210120 RGD protein:increased expression:liver (human) 1305970 Cd68 Cd68 molecule gene DOID:783 end stage renal disease ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 1305970 Cd68 Cd68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:40925944|PMID:21071500 20210125 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) 1305970 Cd68 Cd68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:40925946|PMID:23045593 20210125 RGD protein:increased expression:tumor (human) 1305970 Cd68 Cd68 molecule gene DOID:9000099 Experimental Colitis treatment ISO RGD:1314317 D RGD:40925931|PMID:25004394 20210122 RGD 1305970 Cd68 Cd68 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1314316 D RGD:40925915|PMID:21602260 20210121 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human) 1305970 Cd68 Cd68 molecule gene DOID:9000509 Epstein-Barr Virus Infections severity ISO RGD:1314316 D RGD:40925944|PMID:21071500 20210125 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human) 1305970 Cd68 Cd68 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305970 Cd68 Cd68 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1305970 Cd68 Cd68 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 1305970 Cd68 Cd68 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1314316 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1305970 Cd68 Cd68 molecule gene DOID:9008 psoriatic arthritis ISO RGD:1314316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 1305970 Cd68 Cd68 molecule gene DOID:9009105 HIV Encephalitis ISO RGD:1314316 D RGD:40925943|PMID:15488024 20210125 RGD protein:increased expression:brain (human) 1305970 Cd68 Cd68 molecule gene DOID:9970 obesity ISO RGD:1314316 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1305971 Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060417 3p deletion syndrome ISO RGD:1314318 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1305971 Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1314318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305972 Rnf167 ring finger protein 167 gene DOID:0050941 spastic ataxia 2 ISO RGD:1348849 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 1305972 Rnf167 ring finger protein 167 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1348849 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 1305972 Rnf167 ring finger protein 167 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1348849 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect 1305972 Rnf167 ring finger protein 167 gene DOID:630 genetic disease ISO RGD:1348849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305974 Cers1 ceramide synthase 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257 1305974 Cers1 ceramide synthase 1 gene DOID:0050753 cerebellar ataxia treatment ISO RGD:1622181 D RGD:156431058|PMID:21625621 20230302 RGD 1305974 Cers1 ceramide synthase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1622181 D RGD:156431057|PMID:33753723 20230302 RGD 1305974 Cers1 ceramide synthase 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 1305974 Cers1 ceramide synthase 1 gene DOID:0060856 right atrial isomerism ISO RGD:1314323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 1305974 Cers1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:7240710 20150408 OMIM 1305974 Cers1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:17576681|PMID:17924340|PMID:19243074|PMID:20413652|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:28991257|PMID:30800706|PMID:9536098 1305974 Cers1 ceramide synthase 1 gene DOID:1682 congenital heart disease ISO RGD:1314323 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532|PMID:28991257 1305974 Cers1 ceramide synthase 1 gene DOID:630 genetic disease ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:25741868|PMID:28492532 1305974 Cers1 ceramide synthase 1 gene DOID:6406 double outlet right ventricle ISO RGD:1314323 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340 1305974 Cers1 ceramide synthase 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1314323 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 1305974 Cers1 ceramide synthase 1 gene DOID:758 situs inversus ISO RGD:1314323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340 1305974 Cers1 ceramide synthase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314323 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1305974 Cers1 ceramide synthase 1 gene DOID:9005775 Perinatal Asphyxia IEP D RGD:156431056|PMID:23625371 20230302 RGD 1305974 Cers1 ceramide synthase 1 gene DOID:9007692 Insulin Resistance ameliorates ISO RGD:1622181 D RGD:156431060|PMID:30605666 20230302 RGD 1305974 Cers1 ceramide synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1305974 Cers1 ceramide synthase 1 gene DOID:9970 obesity ISO RGD:1622181 D RGD:156431060|PMID:30605666 20230302 RGD mRNA:increased expression:skeletal muscle cell 1305975 Bola3 bolA family member 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1305975 Bola3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:7240710 20140903 OMIM 1305975 Bola3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 PMID:11156534|PMID:21944046|PMID:22562699|PMID:24334290|PMID:25741868|PMID:26741492|PMID:28492532|PMID:30302924 1305975 Bola3 bolA family member 3 gene DOID:543 dystonia ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1305975 Bola3 bolA family member 3 gene DOID:630 genetic disease ISO RGD:1606380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305975 Bola3 bolA family member 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1305976 Efr3a EFR3 homolog A gene DOID:630 genetic disease ISO RGD:1604382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305978 Glipr1 GLI pathogenesis-related 1 gene DOID:2154 nephroblastoma ISO RGD:1314328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18030365 1305978 Glipr1 GLI pathogenesis-related 1 gene DOID:630 genetic disease ISO RGD:1314328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305978 Glipr1 GLI pathogenesis-related 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305979 Bmp5 bone morphogenetic protein 5 gene DOID:0060306 Meier-Gorlin syndrome ISS RGD:1314331 D RGD:13592920 20180518 MouseDO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 1305979 Bmp5 bone morphogenetic protein 5 gene DOID:630 genetic disease ISO RGD:1314330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1314332 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:11832 visual epilepsy IEP D RGD:9587847|PMID:12123686 20141021 RGD mRNA:increased expression:dentate gyrus 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1314333 D RGD:9588655|PMID:18385101 20141104 RGD 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9588651|PMID:16284366 20141104 RGD DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human) 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9588657|PMID:18668384 20141104 RGD DNA:snp::c.1221+135T>A (rs140689) (human) 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:224 transient cerebral ischemia IEP D RGD:9587846|PMID:12421618 20141021 RGD mRNA:increased expression:hippocampus 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:630 genetic disease ISO RGD:1314332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1305980 Mbd1 methyl-CpG binding domain protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314332 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1305982 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1305982 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1305982 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:1826 epilepsy ISO RGD:1314335 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1305982 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314335 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1305982 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:630 genetic disease ISO RGD:1314335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305982 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:9002189 High Myopia ISO RGD:1314335 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1305983 Pttg1ip PTTG1 interacting protein gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1314337 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1305983 Pttg1ip PTTG1 interacting protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1305983 Pttg1ip PTTG1 interacting protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1305983 Pttg1ip PTTG1 interacting protein gene DOID:12849 autistic disorder ISO RGD:1314337 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1305983 Pttg1ip PTTG1 interacting protein gene DOID:630 genetic disease ISO RGD:1314337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305983 Pttg1ip PTTG1 interacting protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1305983 Pttg1ip PTTG1 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314337 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305983 Pttg1ip PTTG1 interacting protein gene DOID:9263 homocystinuria ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1305983 Pttg1ip PTTG1 interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1305984 Mtrex Mtr4 exosome RNA helicase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606819 D RGD:11041891|PMID:23006766 20160401 RGD mRNA:increased expression:peripheral blood lymphocyte (human) 1305984 Mtrex Mtr4 exosome RNA helicase gene DOID:630 genetic disease ISO RGD:1606819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305984 Mtrex Mtr4 exosome RNA helicase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606819 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305984 Mtrex Mtr4 exosome RNA helicase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606819 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1305985 Golm2 golgi membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1603284 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1305985 Golm2 golgi membrane protein 2 gene DOID:630 genetic disease ISO RGD:1603284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305985 Golm2 golgi membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1603284 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1305986 Suds3 SDS3 homolog, SIN3A corepressor complex component gene DOID:630 genetic disease ISO RGD:1605050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305987 Uqcrh ubiquinol-cytochrome c reductase hinge protein gene DOID:630 genetic disease ISO RGD:1314343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305987 Uqcrh ubiquinol-cytochrome c reductase hinge protein gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:7240710 20221214 OMIM 1305987 Uqcrh ubiquinol-cytochrome c reductase hinge protein gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11 PMID:34750991 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1059 intellectual disability ISO RGD:1605259 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:2746 glycogen storage disease V ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1605259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1305989 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1305990 Dusp15 dual specificity phosphatase 15 gene DOID:630 genetic disease ISO RGD:1314347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305991 Procr protein C receptor gene DOID:12365 malaria disease_progression ISO RGD:1314349 D RGD:126848795|PMID:27671831 20210503 RGD 1305991 Procr protein C receptor gene DOID:13001 carotid stenosis IEP D RGD:13515129|PMID:21903947 20180409 RGD associated with Neointima 1305991 Procr protein C receptor gene DOID:2843 long QT syndrome ISO RGD:1314349 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1305991 Procr protein C receptor gene DOID:3021 acute kidney failure treatment IEP D RGD:10755583|PMID:23807243 20180409 RGD associated with Sepsis 1305991 Procr protein C receptor gene DOID:3393 coronary artery disease ISO RGD:1314349 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 1305991 Procr protein C receptor gene DOID:630 genetic disease ISO RGD:1314349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305991 Procr protein C receptor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:13515125|PMID:27771530 20180409 RGD 1305991 Procr protein C receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1305991 Procr protein C receptor gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:13515130|PMID:20095324 20180409 RGD 1305991 Procr protein C receptor gene DOID:9005372 Inflammation ISO RGD:1314349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23774263 1305991 Procr protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:13515127|PMID:25688263 20180409 RGD protein:increased expression:blood 1305991 Procr protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment IDA D RGD:13515128|PMID:24749346 20180409 RGD 1305991 Procr protein C receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13515126|PMID:26994471 20180409 RGD 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:7240710 20190315 OMIM 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 PMID:21937992|PMID:25741868|PMID:26308914|PMID:30289604 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1601995 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1305992 Trmt1 tRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1305993 Trim46 tripartite motif-containing 46 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1305993 Trim46 tripartite motif-containing 46 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1305993 Trim46 tripartite motif-containing 46 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1305993 Trim46 tripartite motif-containing 46 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1305993 Trim46 tripartite motif-containing 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1314352 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1305993 Trim46 tripartite motif-containing 46 gene DOID:5812 MHC class II deficiency ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1305993 Trim46 tripartite motif-containing 46 gene DOID:630 genetic disease ISO RGD:1314352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305993 Trim46 tripartite motif-containing 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314352 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1305994 Nodal nodal growth differentiation factor gene DOID:0050545 visceral heterotaxy ISO RGD:1314354 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:19064609|PMID:25741868|PMID:28492532 1305994 Nodal nodal growth differentiation factor gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1314354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 1305994 Nodal nodal growth differentiation factor gene DOID:1682 congenital heart disease ISO RGD:1314354 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:19064609|PMID:25741868|PMID:31680349 1305994 Nodal nodal growth differentiation factor gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314354 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:19064609|PMID:25741868|PMID:28492532 1305994 Nodal nodal growth differentiation factor gene DOID:4621 holoprosencephaly ISO RGD:1314354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23264560 1305994 Nodal nodal growth differentiation factor gene DOID:4621 holoprosencephaly ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:19064609|PMID:19553149|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532 1305994 Nodal nodal growth differentiation factor gene DOID:630 genetic disease ISO RGD:1314354 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064609|PMID:25741868|PMID:28492532 1305994 Nodal nodal growth differentiation factor gene DOID:758 situs inversus ISO RGD:1314354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs inversus PMID:19064609|PMID:19553149|PMID:25741868 1305994 Nodal nodal growth differentiation factor gene DOID:769 neuroblastoma ISO RGD:1314354 D RGD:155226876|PMID:30985990 20220919 RGD mRNA:increased expression:neural tissue (human) 1305994 Nodal nodal growth differentiation factor gene DOID:9002116 Congenitally Corrected Transposition of the Great Arteries ISO RGD:1314354 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries PMID:25741868 1305994 Nodal nodal growth differentiation factor gene DOID:9007098 Pulmonary Atresia susceptibility ISO RGD:1314354 D RGD:11568370|PMID:19064609 20220920 RGD DNA:mutations 1305994 Nodal nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:7240710 20130731 OMIM 1305994 Nodal nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-Related Disorders PMID:12447384|PMID:16199547|PMID:17576681|PMID:18579681|PMID:19064609|PMID:19553149|PMID:19933292|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29368431|PMID:9354794|PMID:9536098 1305996 Wdfy1 WD repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1314357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305996 Wdfy1 WD repeat and FYVE domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314357 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1305997 Olig3 oligodendrocyte transcription factor 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1314358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1305997 Olig3 oligodendrocyte transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305997 Olig3 oligodendrocyte transcription factor 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1314358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 1305998 Klk8 kallikrein related-peptidase 8 gene DOID:630 genetic disease ISO RGD:1314360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305999 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:0080600 COVID-19 ISO RGD:1314362 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1305999 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314362 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 1305999 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1314362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1305999 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314362 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1606941 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:7240710 20140911 OMIM 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:16199547|PMID:17576681|PMID:23462291|PMID:24033266|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:28803783|PMID:28913435|PMID:29353736|PMID:30258207|PMID:32180488|PMID:32348839|PMID:34906502|PMID:9536098 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:7240710 20170412 OMIM 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive PMID:17576681|PMID:23462291|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:30258207|PMID:34906502|PMID:9536098 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:10907 microcephaly ISO RGD:1606941 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:1540 parathyroid carcinoma ISO RGD:1606941 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:607 paraplegia ISO RGD:1606941 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:630 genetic disease ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27785568|PMID:28492532|PMID:28671726 1306000 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606941 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306001 Cdpf1 cysteine rich, DPF motif domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604737 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306001 Cdpf1 cysteine rich, DPF motif domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1604737 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306001 Cdpf1 cysteine rich, DPF motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1604737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306002 Tnn tenascin N gene DOID:1540 parathyroid carcinoma ISO RGD:1314366 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306002 Tnn tenascin N gene DOID:3755 antithrombin III deficiency ISO RGD:1314366 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1306002 Tnn tenascin N gene DOID:630 genetic disease ISO RGD:1314366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306002 Tnn tenascin N gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1306002 Tnn tenascin N gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314366 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:7240710 20130221 OMIM 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:10581255|PMID:11181649|PMID:15108280|PMID:15359379|PMID:15840742|PMID:16006436|PMID:17551933|PMID:22642865|PMID:23806237|PMID:25741868|PMID:27172925|PMID:28492532|PMID:29667327|PMID:30167849|PMID:31067009|PMID:33583022|PMID:34090370|PMID:8552211 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:0111546 Currarino syndrome ISO RGD:1314369 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532|PMID:30167849 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:1826 epilepsy ISO RGD:1314369 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314369 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 1306004 Alg3 ALG3, alpha-1,3- mannosyltransferase gene DOID:630 genetic disease ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33583022 1306005 Slc38a11 solute carrier family 38, member 11 gene DOID:1826 epilepsy ISO RGD:1605863 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1306005 Slc38a11 solute carrier family 38, member 11 gene DOID:630 genetic disease ISO RGD:1605863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306006 Brms1l BRMS1 like transcriptional repressor gene DOID:630 genetic disease ISO RGD:1314372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306006 Brms1l BRMS1 like transcriptional repressor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314372 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306007 Zbtb6 zinc finger and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1314374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306008 Armc12 armadillo repeat containing 12 gene DOID:0050553 JMP syndrome ISO RGD:1314376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1306008 Armc12 armadillo repeat containing 12 gene DOID:10283 prostate cancer ISO RGD:1314376 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306008 Armc12 armadillo repeat containing 12 gene DOID:630 genetic disease ISO RGD:1314376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306009 Nanp N-acetylneuraminic acid phosphatase gene DOID:630 genetic disease ISO RGD:1345004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306011 Rnf126 ring finger protein 126 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314381 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1306011 Rnf126 ring finger protein 126 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1306011 Rnf126 ring finger protein 126 gene DOID:630 genetic disease ISO RGD:1314381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306012 Klf14 KLF transcription factor 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343776 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306012 Klf14 KLF transcription factor 14 gene DOID:630 genetic disease ISO RGD:1343776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306012 Klf14 KLF transcription factor 14 gene DOID:9003370 Dyslipidemias ISO RGD:1343776 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 1306012 Klf14 KLF transcription factor 14 gene DOID:9007692 Insulin Resistance ISO RGD:1343776 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 1306012 Klf14 KLF transcription factor 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343776 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314385 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:7240710 20141015 OMIM 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Van den Ende-Gupta syndrome PMID:20887961|PMID:21108395|PMID:23808541|PMID:24478002|PMID:25741868|PMID:28492532|PMID:33783941 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:1059 intellectual disability ISO RGD:1314385 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:10907 microcephaly ISO RGD:1314385 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:11372 megacolon ISO RGD:1314385 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:12849 autistic disorder ISO RGD:1314385 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:1826 epilepsy ISO RGD:1314385 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1314385 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:5419 schizophrenia ISO RGD:1314385 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1314385 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:630 genetic disease ISO RGD:1314385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1314385 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314385 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:9007661 Dwarfism ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1306013 Scarf2 scavenger receptor class F, member 2 gene DOID:9008964 Spermatogenic Failure 52 ISO RGD:12382097 D RGD:9068941 20230209 OMIA Van den Ende-Gupta syndrome PMID:27187611|PMID:27803843 1306014 Mrps24 mitochondrial ribosomal protein S24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314387 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306014 Mrps24 mitochondrial ribosomal protein S24 gene DOID:630 genetic disease ISO RGD:1314387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306015 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 1306015 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0111969 immunodeficiency 39 ISO RGD:1604792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1306015 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:12347 osteogenesis imperfecta ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 1306015 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:630 genetic disease ISO RGD:1604792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306015 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1604792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 1306016 Myo1g myosin IG gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314390 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306016 Myo1g myosin IG gene DOID:630 genetic disease ISO RGD:1314390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306017 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1314392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 1306017 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314392 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306017 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1314392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306017 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:9002189 High Myopia ISO RGD:1314392 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306020 Asphd2 aspartate beta-hydroxylase domain containing 2 gene DOID:0110271 cataract 23 ISO RGD:1601744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1306020 Asphd2 aspartate beta-hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0050700 cardiomyopathy ISO RGD:1314398 D RGD:9068941 20230128 RGD mRNA:increased expression:heart PMID:18658259|REF_RGD_ID:155882484 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1314398 D RGD:1580640|PMID:15705784 19990101 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:155882483|PMID:10888889 20230125 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0080169 tricuspid atresia ISS RGD:1550372 D RGD:13592920 20180518 MouseDO OMIM:605067 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0111590 Cohen syndrome ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:7240710 20150408 OMIM 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 9 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25107291|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34008892 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:155882481|PMID:25196150 20230125 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:155882484|PMID:18658259 20230125 RGD protein:increased expression:heart: 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:1657 ventricular septal defect ISO RGD:1550372 D RGD:155882481|PMID:25196150 20230125 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:1882 atrial heart septal defect ISO RGD:1550372 D RGD:155882481|PMID:25196150 20230125 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:1550372 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:6000 congestive heart failure exacerbates ISO RGD:1550372 D RGD:155882484|PMID:18658259 20230125 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:630 genetic disease ISO RGD:1314398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:6406 double outlet right ventricle ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:155882486|PMID:26959486 20230125 RGD DNA,mRNA:hypermethylation,decreased expression:promoter,heart: 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:1580641|PMID:14517948 19990101 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:7240710 20130221 OMIM 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:14517948|PMID:20807224|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:7240710 20130221 OMIM 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 3 PMID:14517948|PMID:16103912|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:1314398 D RGD:155882487|PMID:28373160 20230125 RGD DNA:SNP: :rs4602861(human) 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:9008539 Perinatal Death ISO RGD:1550372 D RGD:155882481|PMID:25196150 20230125 RGD 1306021 Zfpm2 zinc finger protein, multitype 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1314398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 1306022 Nup188 nucleoporin 188 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306022 Nup188 nucleoporin 188 gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1348104 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M 1306022 Nup188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:7240710 20200318 OMIM 1306022 Nup188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sandestig-stefanova syndrome PMID:24033266|PMID:25741868|PMID:32021605|PMID:32275884 1306022 Nup188 nucleoporin 188 gene DOID:10907 microcephaly ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:32275884 1306022 Nup188 nucleoporin 188 gene DOID:11162 respiratory failure ISO RGD:1348104 D RGD:243048418|PMID:32275884 20230329 RGD DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) 1306022 Nup188 nucleoporin 188 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1348104 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1306022 Nup188 nucleoporin 188 gene DOID:630 genetic disease ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306023 Ubxn8 UBX domain protein 8 gene DOID:630 genetic disease ISO RGD:1603319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306024 Dnajc8 DnaJ heat shock protein family (Hsp40) member C8 gene DOID:630 genetic disease ISO RGD:1314401 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0080600 COVID-19 ISO RGD:1314403 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314403 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314403 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112317 Schindler disease ISO RGD:1314403 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:17171432|PMID:19683538|PMID:2122121|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2243144|PMID:19683538 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:7240710 20130221 OMIM 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:16199547|PMID:17171432|PMID:17576681|PMID:18414213|PMID:19683538|PMID:19763152|PMID:20307669|PMID:2122121|PMID:22406018|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044|PMID:9536098 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:7240710 20211013 OMIM 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:15619430|PMID:16199547|PMID:17171432|PMID:18414213|PMID:19683538|PMID:2122121|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:2564952|PMID:25741868|PMID:27138754|PMID:2733734|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:3149698|PMID:31980526|PMID:32860008|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:0112320 Schindler disease type 3 ISO RGD:1314403 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 PMID:11251574|PMID:11313741|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31980526|PMID:8071745|PMID:8782044 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:1059 intellectual disability ISO RGD:1314403 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2243144 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:1600557|PMID:2243144 20070314 RGD Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:479 angiokeratoma ISO RGD:1314403 D RGD:1600558|PMID:8040340 20070314 RGD Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:630 genetic disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:25741868|PMID:28252636|PMID:28492532 1306025 Naga alpha-N-acetylgalactosaminidase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1314403 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1306026 Msrb2 methionine sulfoxide reductase B2 gene DOID:630 genetic disease ISO RGD:1345900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:1059 intellectual disability ISO RGD:1604991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:11372 megacolon ISO RGD:1604991 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:12583 velocardiofacial syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:12849 autistic disorder ISO RGD:1604991 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:1826 epilepsy ISO RGD:1604991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:5419 schizophrenia ISO RGD:1604991 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1604991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:630 genetic disease ISO RGD:1604991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604991 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306028 Aifm3 apoptosis inducing factor, mitochondria associated 3 gene DOID:9007661 Dwarfism ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1306029 Klf7 KLF transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:29251763 1306029 Klf7 KLF transcription factor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1306029 Klf7 KLF transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763 1306029 Klf7 KLF transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314410 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: KLF7-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763 1306030 Atf7ip activating transcription factor 7 interacting protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1314412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1306030 Atf7ip activating transcription factor 7 interacting protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1314412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1306030 Atf7ip activating transcription factor 7 interacting protein gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 1306030 Atf7ip activating transcription factor 7 interacting protein gene DOID:630 genetic disease ISO RGD:1314412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306030 Atf7ip activating transcription factor 7 interacting protein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1314412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 1306030 Atf7ip activating transcription factor 7 interacting protein gene DOID:9004207 Testicular Neoplasms ISO RGD:1314412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 1306031 Mfap2 microfibril associated protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1314413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1306031 Mfap2 microfibril associated protein 2 gene DOID:5119 ovarian cyst ISO RGD:1314413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1306031 Mfap2 microfibril associated protein 2 gene DOID:630 genetic disease ISO RGD:1314413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306032 Fbxw8 F-box and WD repeat domain containing 8 gene DOID:11054 urinary bladder cancer ISO RGD:1314415 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1306032 Fbxw8 F-box and WD repeat domain containing 8 gene DOID:630 genetic disease ISO RGD:1314415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306033 Atp13a1 ATPase 13A1 gene DOID:630 genetic disease ISO RGD:1346886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306034 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306034 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:630 genetic disease ISO RGD:1314419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306034 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:9001276 Failure to Thrive ISO RGD:1314419 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25558065 1306034 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314419 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306034 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:0050795 cone dystrophy ISS RGD:1550378 D RGD:13592920 20210708 MouseDO OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:7240710 20141015 OMIM 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability PMID:24462371|PMID:25741868|PMID:28492532|PMID:4997531 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1314421 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:12270 coloboma ISO RGD:1314421 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24462371 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:12704 ataxia telangiectasia ISO RGD:1314421 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:255 hemangioma ISO RGD:1314421 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31351048 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1314421 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314421 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:20729916 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:630 genetic disease ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1314421 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29698666 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:769 neuroblastoma ISO RGD:1314421 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1314421 D RGD:151893490|PMID:28756200 20220421 RGD 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9000918 Disease Progression ISO RGD:1314421 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314421 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314421 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20947521 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9002801 Recurrence ISO RGD:1314421 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314421 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1314421 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9007502 Brain Neoplasms ISO RGD:1314421 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314421 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:30510241|PMID:34351699 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1314421 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:28114269|PMID:28524356 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9256 colorectal cancer treatment ISO RGD:1314421 D RGD:153297782|PMID:32682784 20220726 RGD human cells in mouse model 1306035 Yap1 Yes1 associated transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1314421 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1306036 Slc10a5 solute carrier family 10, member 5 gene DOID:630 genetic disease ISO RGD:1314423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306037 Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:3753 Hermansky-Pudlak syndrome ISS RGD:1332125 D RGD:13592920 20180518 MouseDO 1306037 Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:630 genetic disease ISO RGD:1602324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306038 Ssh1 slingshot protein phosphatase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345208 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1306038 Ssh1 slingshot protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:1345208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306038 Ssh1 slingshot protein phosphatase 1 gene DOID:9002514 Neointima IEP D RGD:11535005|PMID:21868701 20160916 RGD protein:increased expression:carotid artery 1306039 C1ql1 complement C1q like 1 gene DOID:630 genetic disease ISO RGD:1314427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306040 Creb3l2 cAMP responsive element binding protein 3-like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314429 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306040 Creb3l2 cAMP responsive element binding protein 3-like 2 gene DOID:630 genetic disease ISO RGD:1314429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306041 Ttc38 tetratricopeptide repeat domain 38 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602885 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306041 Ttc38 tetratricopeptide repeat domain 38 gene DOID:1059 intellectual disability ISO RGD:1602885 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306041 Ttc38 tetratricopeptide repeat domain 38 gene DOID:630 genetic disease ISO RGD:1602885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306042 Sugp2 SURP and G patch domain containing 2 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314432 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1306042 Sugp2 SURP and G patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1314432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306042 Sugp2 SURP and G patch domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1306043 Dmrt3 doublesex and mab-3 related transcription factor 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1306043 Dmrt3 doublesex and mab-3 related transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314434 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1306043 Dmrt3 doublesex and mab-3 related transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306044 Usp13 ubiquitin specific peptidase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1314436 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1306044 Usp13 ubiquitin specific peptidase 13 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314436 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1306044 Usp13 ubiquitin specific peptidase 13 gene DOID:37 skin disease ISO RGD:1314436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1306044 Usp13 ubiquitin specific peptidase 13 gene DOID:630 genetic disease ISO RGD:1314436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306044 Usp13 ubiquitin specific peptidase 13 gene DOID:9007964 Arsenic Poisoning ISO RGD:1314436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:19667227 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:7240710 20190515 OMIM 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type) PMID:19125351|PMID:19667227|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:7240710 20150821 OMIM 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:9536098 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32161153|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:25326635|PMID:25326637|PMID:25741868|PMID:30439532 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:7240710 20130221 OMIM 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 PMID:17486094|PMID:19664747|PMID:21378381|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111590 Cohen syndrome ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:10003 sensorineural hearing loss ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:25326635|PMID:25326637|PMID:25741868|PMID:30439532 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3650 lactic acidosis ISO RGD:1314438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:557 kidney disease ISO RGD:1314438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:630 genetic disease ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:699 mitochondrial myopathy ISO RGD:1314438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17486094|PMID:19138848 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:700 mitochondrial metabolism disease ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:17576681|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:28812649|PMID:32313153|PMID:9536098 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004493 Camptocormia ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:7240710 20220316 OMIM 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 1306045 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9005603 Muscle Hypotonia ISO RGD:1314438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 1306047 Reep5 receptor accessory protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306047 Reep5 receptor accessory protein 5 gene DOID:13580 cholestasis ISO RGD:1314440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1306047 Reep5 receptor accessory protein 5 gene DOID:630 genetic disease ISO RGD:1314440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306047 Reep5 receptor accessory protein 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306047 Reep5 receptor accessory protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314440 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306047 Reep5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1306047 Reep5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306047 Reep5 receptor accessory protein 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1306048 Tube1 tubulin, epsilon 1 gene DOID:630 genetic disease ISO RGD:1314442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306049 Smox spermine oxidase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1314443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1306049 Smox spermine oxidase gene DOID:3525 middle cerebral artery infarction ISO RGD:1314443 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30576531 1306049 Smox spermine oxidase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1314443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1306049 Smox spermine oxidase gene DOID:630 genetic disease ISO RGD:1314443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306049 Smox spermine oxidase gene DOID:9007096 Stroke ISO RGD:1314443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 1306050 Gdap2 ganglioside-induced differentiation-associated-protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:7240710 20190424 OMIM 1306050 Gdap2 ganglioside-induced differentiation-associated-protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 PMID:25741868|PMID:30084953 1306050 Gdap2 ganglioside-induced differentiation-associated-protein 2 gene DOID:630 genetic disease ISO RGD:1314445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1348761 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:1059 intellectual disability ISO RGD:1348761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:12849 autistic disorder ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:1932 Angelman syndrome ISO RGD:1348761 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:5419 schizophrenia ISO RGD:1348761 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:630 genetic disease ISO RGD:1348761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306051 Nipa2 NIPA magnesium transporter 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348761 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:7240710 20140911 OMIM 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:17576681|PMID:24399846|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30525121|PMID:30626896|PMID:9536098 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603669 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603669 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:1826 epilepsy ISO RGD:1603669 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:630 genetic disease ISO RGD:1603669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306053 Necap1 NECAP endocytosis associated 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603669 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1306055 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 1306055 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 1306055 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1306055 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1314452 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306055 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306055 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314452 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306056 Helz2 helicase with zinc finger 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1306056 Helz2 helicase with zinc finger 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1604565 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1306056 Helz2 helicase with zinc finger 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1604565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1306056 Helz2 helicase with zinc finger 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1306056 Helz2 helicase with zinc finger 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1604565 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1306056 Helz2 helicase with zinc finger 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1306056 Helz2 helicase with zinc finger 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1306056 Helz2 helicase with zinc finger 2 gene DOID:630 genetic disease ISO RGD:1604565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306056 Helz2 helicase with zinc finger 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:0050453 lissencephaly ISO RGD:1352225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:30471716 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352225 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352225 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:7240710 20190315 OMIM 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia PMID:24507697|PMID:25741868|PMID:28492532|PMID:30471716|PMID:33600046 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:10283 prostate cancer ISO RGD:1352225 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1352225 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:1826 epilepsy ISO RGD:1352225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:9004125 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas ISO RGD:1352225 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Facial hemangioma PMID:31474318 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:9007661 Dwarfism ISO RGD:1352225 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1306057 Macf1 microtubule-actin crosslinking factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352225 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1306058 Card19 caspase recruitment domain family, member 19 gene DOID:630 genetic disease ISO RGD:1314456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306061 Pgm2 phosphoglucomutase 2 gene DOID:0080600 COVID-19 ISO RGD:1314459 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306061 Pgm2 phosphoglucomutase 2 gene DOID:630 genetic disease ISO RGD:1314459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1314461 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1314461 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:24033266 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:7240710 20141015 OMIM 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:16199547|PMID:20176027|PMID:21120949|PMID:23326254|PMID:25326635|PMID:25714577|PMID:25741868|PMID:28292286|PMID:28492532|PMID:28750028|PMID:29527791|PMID:34093558 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:10283 prostate cancer ISO RGD:1314461 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:612 primary immunodeficiency disease ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1314461 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314461 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306062 Skic3 SKI3 subunit of superkiller complex gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306063 Cep15 centrosomal protein 15 gene DOID:630 genetic disease ISO RGD:1347639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306064 Dennd6a DENN domain containing 6A gene DOID:13938 amenorrhea ISO RGD:1606682 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1306064 Dennd6a DENN domain containing 6A gene DOID:630 genetic disease ISO RGD:1606682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306064 Dennd6a DENN domain containing 6A gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1306065 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:0050553 JMP syndrome ISO RGD:1314465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1306065 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:3492 mixed connective tissue disease ISO RGD:1314465 D RGD:10766447|PMID:10555891 20160205 RGD associated with Hypertension, Pulmonary 1306065 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:630 genetic disease ISO RGD:1314465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306065 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:65 connective tissue disease ISO RGD:1314465 D RGD:10448928|PMID:2968364 20160202 RGD 1306065 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:9074 systemic lupus erythematosus ISO RGD:1314465 D RGD:10766446|PMID:8647956 20160205 RGD 1306067 Esf1 ESF1 nucleolar pre-rRNA processing protein homolog gene DOID:630 genetic disease ISO RGD:1314468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306068 Arhgap1 Rho GTPase activating protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1306068 Arhgap1 Rho GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1314470 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306068 Arhgap1 Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306068 Arhgap1 Rho GTPase activating protein 1 gene DOID:9002644 Premature Aging ISO RGD:1314471 D RGD:10043350|PMID:17227869 20150522 RGD 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1314472 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28492532 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:7240710 20130221 OMIM 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:19763152|PMID:20307669|PMID:21937992|PMID:22406018|PMID:24088041|PMID:24126608|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26583493|PMID:26633545|PMID:27281532|PMID:28492532|PMID:30617279|PMID:30847374|PMID:31090908|PMID:31167812|PMID:31178479|PMID:31527692|PMID:31560180|PMID:31837156|PMID:32242460|PMID:32298515|PMID:32365420|PMID:34169149|PMID:9536098 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:25741868|PMID:28492532 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1314472 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:25741868|PMID:28492532 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1314472 D RGD:11554173 20190723 CTD CTD Direct Evidence: marker/mechanism 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1314472 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:18414213|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31090908 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692|PMID:31837156|PMID:34169149|PMID:9536098 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1314472 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868|PMID:26583493|PMID:26633545|PMID:28492532|PMID:31167812|PMID:31527692 1306069 Vrk1 VRK serine/threonine kinase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314472 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1314474 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:20335603|PMID:28492532 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:7240710 20130717 OMIM 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1314474 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:4448 macular degeneration ISO RGD:1314474 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28492532|PMID:30718709 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:630 genetic disease ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:8466 retinal degeneration ISO RGD:1314475 D RGD:8553197|PMID:10802659 20140507 RGD 1306070 Rom1 retinal outer segment membrane protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30718709|PMID:8595413 1306071 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:0111944 immunodeficiency 31B ISO RGD:1314476 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1306071 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:12849 autistic disorder ISO RGD:1314476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 1306071 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:630 genetic disease ISO RGD:1314476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306071 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:674 cleft palate ISO RGD:1314476 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cleft palate 1306071 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314476 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0060241 3-M syndrome ISO RGD:1603688 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: 3-M syndrome 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloglossia PMID:25741868|PMID:28492532|PMID:30755392 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:1148 polydactyly ISO RGD:1603688 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:630 genetic disease ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603688 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1603688 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:30980518 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:7240710 20130221 OMIM 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300 1306073 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9007661 Dwarfism ISO RGD:1603688 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature PMID:19481195|PMID:25741868 1306074 Mymk myomaker, myoblast fusion factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1306074 Mymk myomaker, myoblast fusion factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306074 Mymk myomaker, myoblast fusion factor gene DOID:0080194 Carey-Fineman-Ziter syndrome ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences PMID:25741868|PMID:28681861|PMID:29560417|PMID:30016436|PMID:30065953|PMID:7131178 1306074 Mymk myomaker, myoblast fusion factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302829 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306074 Mymk myomaker, myoblast fusion factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1306074 Mymk myomaker, myoblast fusion factor gene DOID:0081097 Rafiq syndrome ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1306074 Mymk myomaker, myoblast fusion factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:3302829 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1306074 Mymk myomaker, myoblast fusion factor gene DOID:3652 Leigh disease ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306074 Mymk myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:7240710 20220706 OMIM 1306074 Mymk myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:7131178 1306076 Ntsr1 neurotensin receptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1306076 Ntsr1 neurotensin receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 1306076 Ntsr1 neurotensin receptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1306076 Ntsr1 neurotensin receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1314483 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306076 Ntsr1 neurotensin receptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1306076 Ntsr1 neurotensin receptor 1 gene DOID:14330 Parkinson's disease ISO RGD:1314483 D RGD:9743906|PMID:7700529 20150219 RGD 1306076 Ntsr1 neurotensin receptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314483 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1306076 Ntsr1 neurotensin receptor 1 gene DOID:1826 epilepsy ISO RGD:1314483 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1306076 Ntsr1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20659557 1306076 Ntsr1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:36947392 20200803 RGD DNA:repeat:enhancer: 1306076 Ntsr1 neurotensin receptor 1 gene DOID:630 genetic disease ISO RGD:1314483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306076 Ntsr1 neurotensin receptor 1 gene DOID:9000641 Pain ISO RGD:1314483 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20727387 1306076 Ntsr1 neurotensin receptor 1 gene DOID:9002211 Hyperalgesia IDA D RGD:9743902|PMID:22396077 20150218 RGD 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314485 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:1314486 D RGD:13592920 20180518 MouseDO 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:10603 glucose intolerance ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1314485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:2018 hyperinsulinism ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1314485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:5419 schizophrenia ISO RGD:1314485 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1314485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:1314485 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9003370 Dyslipidemias ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:17389588 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9256 colorectal cancer ISO RGD:1314485 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9452 fatty liver disease ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 1306077 Neil1 nei-like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314487 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:2340 craniosynostosis ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1314487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:8893 psoriasis ISO RGD:1314487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12711469 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1306078 Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1306079 Sema3g semaphorin 3G gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1306079 Sema3g semaphorin 3G gene DOID:630 genetic disease ISO RGD:1601989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306080 Blvrb biliverdin reductase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1306080 Blvrb biliverdin reductase B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1306080 Blvrb biliverdin reductase B gene DOID:2340 craniosynostosis ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1306080 Blvrb biliverdin reductase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314490 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1306080 Blvrb biliverdin reductase B gene DOID:630 genetic disease ISO RGD:1314490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306080 Blvrb biliverdin reductase B gene DOID:9000217 Stomach Neoplasms ISO RGD:1314490 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 1306080 Blvrb biliverdin reductase B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1306080 Blvrb biliverdin reductase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314490 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1306080 Blvrb biliverdin reductase B gene DOID:9269 maple syrup urine disease ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1306081 Ccdc12 coiled-coil domain containing 12 gene DOID:0111044 gray platelet syndrome ISO RGD:1343271 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome 1306081 Ccdc12 coiled-coil domain containing 12 gene DOID:630 genetic disease ISO RGD:1343271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306081 Ccdc12 coiled-coil domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1306083 Cabp4 calcium binding protein 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532 1306083 Cabp4 calcium binding protein 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 1306083 Cabp4 calcium binding protein 4 gene DOID:0050630 Aland Island eye disease ISO RGD:1314493 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:30718709 1306083 Cabp4 calcium binding protein 4 gene DOID:0050795 cone dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873 1306083 Cabp4 calcium binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1314493 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306083 Cabp4 calcium binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1314493 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306083 Cabp4 calcium binding protein 4 gene DOID:13911 achromatopsia ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 1306083 Cabp4 calcium binding protein 4 gene DOID:630 genetic disease ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306083 Cabp4 calcium binding protein 4 gene DOID:8501 fundus dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:30718709 1306083 Cabp4 calcium binding protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1314493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1306083 Cabp4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:7240710 20130221 OMIM 1306083 Cabp4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive PMID:16960802|PMID:19074807|PMID:20157620|PMID:23099293|PMID:23714322|PMID:25258313|PMID:25307992|PMID:25741868|PMID:26234941|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 1306083 Cabp4 calcium binding protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1314493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1306084 Cyb5r1 cytochrome b5 reductase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1314495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1306084 Cyb5r1 cytochrome b5 reductase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1314495 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306084 Cyb5r1 cytochrome b5 reductase 1 gene DOID:630 genetic disease ISO RGD:1314495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306084 Cyb5r1 cytochrome b5 reductase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1314495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1306084 Cyb5r1 cytochrome b5 reductase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314495 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306086 Riok1 RIO kinase 1 gene DOID:630 genetic disease ISO RGD:1314499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306087 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:7240710 20130221 OMIM 1306087 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:10070612|PMID:10626578|PMID:10896289|PMID:12434311|PMID:12655555|PMID:15033206|PMID:16199547|PMID:16354225|PMID:16640564|PMID:17130438|PMID:17576681|PMID:20855850|PMID:20882351|PMID:21840233|PMID:24598254|PMID:25741868|PMID:28438368|PMID:28492532|PMID:32778825|PMID:6181239|PMID:9536098 1306087 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1314501 D RGD:1599425|PMID:12434311 20070201 RGD 1306087 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:630 genetic disease ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306088 Sfxn4 sideroflexin 4 gene DOID:0111484 combined oxidative phosphorylation deficiency 18 ISO RGD:1314503 D RGD:7240710 20140911 OMIM 1306088 Sfxn4 sideroflexin 4 gene DOID:0111484 combined oxidative phosphorylation deficiency 18 ISO RGD:1314503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome PMID:16199547|PMID:24119684|PMID:25741868|PMID:28492532 1306088 Sfxn4 sideroflexin 4 gene DOID:630 genetic disease ISO RGD:1314503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306089 Mnda myeloid cell nuclear differentiation antigen gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1306089 Mnda myeloid cell nuclear differentiation antigen gene DOID:1540 parathyroid carcinoma ISO RGD:1314505 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306089 Mnda myeloid cell nuclear differentiation antigen gene DOID:630 genetic disease ISO RGD:1314505 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306089 Mnda myeloid cell nuclear differentiation antigen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1557521 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306089 Mnda myeloid cell nuclear differentiation antigen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314505 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306091 Map3k21 mitogen-activated protein kinase kinase kinase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1601734 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306091 Map3k21 mitogen-activated protein kinase kinase kinase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601734 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306092 Rnf6 ring finger protein 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1314509 D RGD:1599613|PMID:12154016 20070208 RGD 1306092 Rnf6 ring finger protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314509 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:12154016 1306092 Rnf6 ring finger protein 6 gene DOID:5041 esophageal cancer ISO RGD:1314509 D RGD:7240710 20180418 OMIM 1306092 Rnf6 ring finger protein 6 gene DOID:630 genetic disease ISO RGD:1314509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306092 Rnf6 ring finger protein 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314509 D RGD:151665757|PMID:30496760 20220331 RGD 1306092 Rnf6 ring finger protein 6 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314509 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 1306092 Rnf6 ring finger protein 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314509 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1606256 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1606256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:28492532 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:0080600 COVID-19 ISO RGD:1606256 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:1969 cerebral palsy ISO RGD:1606256 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:630 genetic disease ISO RGD:1606256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:7240710 20190315 OMIM 1306093 Arhgap31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:16451141|PMID:21565291|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29924900|PMID:474617 1306094 Lrrc66 leucine rich repeat containing 66 gene DOID:630 genetic disease ISO RGD:1602410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306095 Zscan30 zinc finger and SCAN domain containing 30 gene DOID:1059 intellectual disability ISO RGD:2290512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306095 Zscan30 zinc finger and SCAN domain containing 30 gene DOID:630 genetic disease ISO RGD:2290512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306096 Pym1 PYM homolog 1, exon junction complex associated factor gene DOID:630 genetic disease ISO RGD:1601845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306097 Dop1b DOP1 leucine zipper like protein B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1306097 Dop1b DOP1 leucine zipper like protein B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1306097 Dop1b DOP1 leucine zipper like protein B gene DOID:10126 keratoconus ISO RGD:1314515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 1306097 Dop1b DOP1 leucine zipper like protein B gene DOID:630 genetic disease ISO RGD:1314515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306097 Dop1b DOP1 leucine zipper like protein B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1314515 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 1306098 Sae1 SUMO1 activating enzyme subunit 1 gene DOID:630 genetic disease ISO RGD:1604646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306099 Itih1 inter-alpha trypsin inhibitor, heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1314518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1306099 Itih1 inter-alpha trypsin inhibitor, heavy chain 1 gene DOID:3312 bipolar disorder ISO RGD:1314518 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1306099 Itih1 inter-alpha trypsin inhibitor, heavy chain 1 gene DOID:630 genetic disease ISO RGD:1314518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306099 Itih1 inter-alpha trypsin inhibitor, heavy chain 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314518 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 1306099 Itih1 inter-alpha trypsin inhibitor, heavy chain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1314518 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 1306100 Rasl10a RAS-like, family 10, member A gene DOID:0111252 neurofibromatosis 2 ISO RGD:1606572 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1306100 Rasl10a RAS-like, family 10, member A gene DOID:630 genetic disease ISO RGD:1606572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306100 Rasl10a RAS-like, family 10, member A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1306101 Cmip c-Maf-inducing protein gene DOID:10485 esophageal atresia ISO RGD:1603294 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1306101 Cmip c-Maf-inducing protein gene DOID:630 genetic disease ISO RGD:1603294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306101 Cmip c-Maf-inducing protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603294 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1306102 Cage1 cancer antigen 1 gene DOID:630 genetic disease ISO RGD:1604175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306103 Adpgk ADP-dependent glucokinase gene DOID:0110225 Brugada syndrome 8 ISO RGD:1353628 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 1306103 Adpgk ADP-dependent glucokinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1306103 Adpgk ADP-dependent glucokinase gene DOID:2717 Bloom syndrome ISO RGD:1353628 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306103 Adpgk ADP-dependent glucokinase gene DOID:3320 Tay-Sachs disease ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1306103 Adpgk ADP-dependent glucokinase gene DOID:5419 schizophrenia ISO RGD:1353628 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306103 Adpgk ADP-dependent glucokinase gene DOID:630 genetic disease ISO RGD:1353628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306103 Adpgk ADP-dependent glucokinase gene DOID:9256 colorectal cancer ISO RGD:1353628 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306104 Commd4 COMM domain containing 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314525 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 1306104 Commd4 COMM domain containing 4 gene DOID:1826 epilepsy ISO RGD:1314525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306104 Commd4 COMM domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1314525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306104 Commd4 COMM domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1314525 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306104 Commd4 COMM domain containing 4 gene DOID:630 genetic disease ISO RGD:1314525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306104 Commd4 COMM domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1314525 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306105 Tmem150c transmembrane protein 150C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:3564030 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1306105 Tmem150c transmembrane protein 150C gene DOID:630 genetic disease ISO RGD:3564030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306105 Tmem150c transmembrane protein 150C gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:3564030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1306106 Rrp15 ribosomal RNA processing 15 homolog gene DOID:0050439 Usher syndrome ISO RGD:1606298 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1306106 Rrp15 ribosomal RNA processing 15 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606298 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1306106 Rrp15 ribosomal RNA processing 15 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606298 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306106 Rrp15 ribosomal RNA processing 15 homolog gene DOID:630 genetic disease ISO RGD:1606298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306106 Rrp15 ribosomal RNA processing 15 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606298 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314529 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:630 genetic disease ISO RGD:1314529 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306107 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314529 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1606546 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:24026677|PMID:25741868|PMID:27799067|PMID:28492532 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:7240710 20130221 OMIM 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3 PMID:16033914|PMID:18414213|PMID:21102627|PMID:24026677|PMID:24033266|PMID:25066123|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:31980526 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1606546 D RGD:11535973|PMID:22023432 20160926 RGD DNA:SNPs, haplotype: :rs6511901, rs10410239 (human) 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:25066123|PMID:25741868|PMID:28492532 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21102627|PMID:24026677|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:28518168|PMID:31980526|PMID:32461654 1306108 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1606546 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 1306109 Slc35g2 solute carrier family 35, member G2 gene DOID:1909 melanoma ISO RGD:1314532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1306109 Slc35g2 solute carrier family 35, member G2 gene DOID:630 genetic disease ISO RGD:1314532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306109 Slc35g2 solute carrier family 35, member G2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314532 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1602702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602702 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:630 genetic disease ISO RGD:1602702 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28544275|PMID:31463572|PMID:31607746|PMID:33222031 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:7240710 20190315 OMIM 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA PMID:25741868|PMID:28492532|PMID:28544275|PMID:28554942|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31607746|PMID:33222031 1306110 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602702 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306111 Cox7a2l cytochrome c oxidase subunit 7A2 like gene DOID:3883 Lynch syndrome ISO RGD:1314534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:7240710 20190315 OMIM 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67 PMID:25741868|PMID:30409806|PMID:33736665 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:1059 intellectual disability ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30409806|PMID:33736665 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:630 genetic disease ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30409806|PMID:33736665 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314535 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30409806|PMID:33736665 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1314535 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:30409806|PMID:33736665 1306112 Eif3f eukaryotic translation initiation factor 3, subunit F gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10755506|PMID:12875716 20160129 RGD 1306113 Fjx1 four-jointed box kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314537 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306113 Fjx1 four-jointed box kinase 1 gene DOID:630 genetic disease ISO RGD:1314537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306113 Fjx1 four-jointed box kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1314537 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:769 neuroblastoma ISO RGD:1314539 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941191 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:7240710 20190315 OMIM 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 1306114 Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 1306115 Pcnx1 pecanex 1 gene DOID:10283 prostate cancer ISO RGD:1352404 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306115 Pcnx1 pecanex 1 gene DOID:630 genetic disease ISO RGD:1352404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306116 Fhip2a FHF complex subunit HOOK interacting protein 2A gene DOID:0050888 syndromic intellectual disability ISO RGD:1314542 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 1306116 Fhip2a FHF complex subunit HOOK interacting protein 2A gene DOID:1909 melanoma ISO RGD:1314542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1306116 Fhip2a FHF complex subunit HOOK interacting protein 2A gene DOID:630 genetic disease ISO RGD:1314542 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306117 Stxbp6 syntaxin binding protein 6 gene DOID:12849 autistic disorder ISO RGD:1314544 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 1306117 Stxbp6 syntaxin binding protein 6 gene DOID:630 genetic disease ISO RGD:1314544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306117 Stxbp6 syntaxin binding protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306118 Enox1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:10283 prostate cancer ISO RGD:1605985 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306118 Enox1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:630 genetic disease ISO RGD:1605985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306119 Mideas mitotic deacetylase associated SANT domain protein gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1314547 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1306119 Mideas mitotic deacetylase associated SANT domain protein gene DOID:1059 intellectual disability ISO RGD:1314547 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1306119 Mideas mitotic deacetylase associated SANT domain protein gene DOID:630 genetic disease ISO RGD:1314547 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306120 Tll1 tolloid-like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:155882583|PMID:18830233 20230131 RGD DNA:deletion|insertion|mutations:exons:multiple (human 1306120 Tll1 tolloid-like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:155883161|PMID:27418595 20230202 RGD DNA:mutation:cds:p.I263V (human) 1306120 Tll1 tolloid-like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:7240710 20130425 OMIM 1306120 Tll1 tolloid-like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 6 PMID:10331975|PMID:18830233|PMID:25741868|PMID:31570783 1306120 Tll1 tolloid-like 1 gene DOID:1681 heart septal defect ISO RGD:1550401 D RGD:155882595|PMID:10331975 20230131 RGD 1306120 Tll1 tolloid-like 1 gene DOID:1682 congenital heart disease ISO RGD:1314549 D RGD:155882571|PMID:22883091 20230130 RGD DNA:insertion:exon:exon 10 (human) 1306120 Tll1 tolloid-like 1 gene DOID:3393 coronary artery disease severity ISO RGD:1314549 D RGD:155883159|PMID:21911782 20230202 RGD associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human) 1306120 Tll1 tolloid-like 1 gene DOID:630 genetic disease ISO RGD:1314549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:0080422 Dravet syndrome ISO RGD:1314551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1314551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:630 genetic disease ISO RGD:1314551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306121 Vps72 vacuolar protein sorting 72 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314551 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306125 Anapc5 anaphase-promoting complex subunit 5 gene DOID:630 genetic disease ISO RGD:1314558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306126 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1306126 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1306126 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1343313 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306126 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343313 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306126 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1343313 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:0080422 Dravet syndrome ISO RGD:1314561 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:11054 urinary bladder cancer ISO RGD:1314561 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1314561 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:5812 MHC class II deficiency ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:630 genetic disease ISO RGD:1314561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314561 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:1314561 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314561 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 1306127 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314561 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306128 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1314563 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A 1306128 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1314563 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 1306128 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:11476 osteoporosis ISO RGD:1314563 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30598549 1306128 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:630 genetic disease ISO RGD:1314563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306128 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:7240710 20210414 OMIM 1306128 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 24 PMID:25741868|PMID:33232676 1306129 Thrap3 thyroid hormone receptor associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314565 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306129 Thrap3 thyroid hormone receptor associated protein 3 gene DOID:630 genetic disease ISO RGD:1314565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306130 Ovol2 ovo-like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26749309 1306130 Ovol2 ovo-like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:7240710 20190315 OMIM 1306130 Ovol2 ovo-like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:16303937|PMID:23049806|PMID:25741868|PMID:26749309|PMID:28492532|PMID:4900143 1306130 Ovol2 ovo-like zinc finger 2 gene DOID:5374 pilomatrixoma ISO RGD:1314567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 1306130 Ovol2 ovo-like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1314567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306131 Sfxn2 sideroflexin 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 1306131 Sfxn2 sideroflexin 2 gene DOID:630 genetic disease ISO RGD:1314569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306132 Ly6d lymphocyte antigen 6 family member D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1306132 Ly6d lymphocyte antigen 6 family member D gene DOID:4621 holoprosencephaly ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1306132 Ly6d lymphocyte antigen 6 family member D gene DOID:630 genetic disease ISO RGD:1314571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314573 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314573 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314573 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:182 calcinosis ISO RGD:1314573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:4079 heart valve disease ISO RGD:1314573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:630 genetic disease ISO RGD:1314573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1314573 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1306133 Lsp1 lymphocyte-specific protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17529967|PMID:20453838 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16237566 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:1599053|PMID:11799392 20070115 RGD DNA:mutations:multiple (human) 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:7240710 20130221 OMIM 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:11799392|PMID:12471207|PMID:15523612|PMID:15880370|PMID:15884045|PMID:16199547|PMID:16237566|PMID:16840568|PMID:17089404|PMID:17576681|PMID:18805831|PMID:18974355|PMID:19127206|PMID:19793864|PMID:20179009|PMID:20301550|PMID:21914180|PMID:22998683|PMID:23359635|PMID:23671665|PMID:24589093|PMID:25349199|PMID:25640679|PMID:25741868|PMID:25748404|PMID:25943327|PMID:26089390|PMID:26195148|PMID:26499378|PMID:27577878|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28796785|PMID:28844315|PMID:29127259|PMID:29282041|PMID:29802247|PMID:30026777|PMID:30635151|PMID:30784191|PMID:31039288|PMID:31275356|PMID:32393263|PMID:32499645|PMID:32604935|PMID:33203071|PMID:33532864|PMID:9536098 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:28492532|PMID:28844315 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:1184 nephrotic syndrome ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:18974355|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:557 kidney disease ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11799392|PMID:15523612|PMID:16199547|PMID:18805831|PMID:20301550|PMID:25741868|PMID:28492532|PMID:30026777|PMID:30784191|PMID:32499645 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:630 genetic disease ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306134 Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314575 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306135 Ifna1 interferon, alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:20370541 1306135 Ifna1 interferon, alpha 1 gene DOID:11168 anogenital venereal wart treatment ISO RGD:1350617 D RGD:36174028|PMID:25774455 20200728 RGD 1306135 Ifna1 interferon, alpha 1 gene DOID:12287 Crimean-Congo hemorrhagic fever susceptibility ISO RGD:1354356 D RGD:9068941 20211217 RGD DNA:SNP:promoter: -1823G>A (rs1332190)(human) PMID:26694082|REF_RGD_ID:36174029 1306135 Ifna1 interferon, alpha 1 gene DOID:1793 pancreatic cancer ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:17198089|PMID:17961653 1306135 Ifna1 interferon, alpha 1 gene DOID:1909 melanoma ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:15176220|PMID:15577320|PMID:15577323|PMID:16034308|PMID:16260693|PMID:16260697|PMID:16432458 1306135 Ifna1 interferon, alpha 1 gene DOID:2043 hepatitis B ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:15504288 1306135 Ifna1 interferon, alpha 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:15200845 1306135 Ifna1 interferon, alpha 1 gene DOID:299 adenocarcinoma ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:17198089 1306135 Ifna1 interferon, alpha 1 gene DOID:5052 melioidosis ISO RGD:1354356 D RGD:9068941 20211217 RGD mRNA:increased expression:PBMC PMID:28435890|REF_RGD_ID:36174031 1306135 Ifna1 interferon, alpha 1 gene DOID:5082 liver cirrhosis ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:18665156 1306135 Ifna1 interferon, alpha 1 gene DOID:5419 schizophrenia ISO RGD:1354356 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306135 Ifna1 interferon, alpha 1 gene DOID:5574 vipoma ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:17961653 1306135 Ifna1 interferon, alpha 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: marker/mechanism PMID:9612607 1306135 Ifna1 interferon, alpha 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:17088986|PMID:17971768|PMID:18665156 1306135 Ifna1 interferon, alpha 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1354356 D RGD:9068941 20211217 RGD associated with hepatitis B; DNA:SNP:: ( rs1831583) (human) PMID:29080269|REF_RGD_ID:21406429 1306135 Ifna1 interferon, alpha 1 gene DOID:8398 osteoarthritis treatment IEP D RGD:36174218|PMID:30456844 20200729 RGD 1306135 Ifna1 interferon, alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:12898905|PMID:14512876|PMID:16027843 1306135 Ifna1 interferon, alpha 1 gene DOID:9006698 Vaginal Neoplasms ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:15577323 1306135 Ifna1 interferon, alpha 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:14633663 1306135 Ifna1 interferon, alpha 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354356 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:15289873 1306138 Samd14 sterile alpha motif domain containing 14 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1602057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 1306138 Samd14 sterile alpha motif domain containing 14 gene DOID:630 genetic disease ISO RGD:1602057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306140 Tdrd1 tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:1314584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306141 Evpl envoplakin gene DOID:630 genetic disease ISO RGD:1314586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306142 Dennd2a DENN domain containing 2A gene DOID:0080690 RASopathy ISO RGD:1314588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1306142 Dennd2a DENN domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314588 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306142 Dennd2a DENN domain containing 2A gene DOID:630 genetic disease ISO RGD:1314588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0050563 nonsyndromic deafness ISO RGD:1606524 D RGD:11098120|PMID:26371875 20161004 RGD DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606524 D RGD:11537471|PMID:23526554 20161005 RGD DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:27541164|PMID:28492532|PMID:28663785|PMID:31112829 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:7240710 20140911 OMIM 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25401298|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28428906|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31780880 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29671961|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32369273|PMID:32581362|PMID:9536098 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25326637|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29429257|PMID:29655203|PMID:29671961|PMID:29933521|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30680869|PMID:30776697|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32369273|PMID:32581362|PMID:33281559|PMID:33333793|PMID:9536098 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0080855 Parkinsonism ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:27541164|PMID:28492532|PMID:28663785|PMID:29429257|PMID:29933521|PMID:31112829 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:7240710 20140911 OMIM 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22211675|PMID:22277662|PMID:24033266|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:7240710 20171004 OMIM 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24729539|PMID:24729547|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:30311386|PMID:31112829|PMID:33281559 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:7240710 20141015 OMIM 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome PMID:20727515|PMID:22211675|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:30335140|PMID:31112829|PMID:31257402|PMID:31780880 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:7240710 20190821 OMIM 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome PMID:10072049|PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24387994|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30108545|PMID:30311386|PMID:31112829|PMID:31257402|PMID:31922275|PMID:32581362 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:1059 intellectual disability ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:11832 visual epilepsy ISO RGD:1606524 D RGD:11537393|PMID:20797691 20161004 RGD DNA:mutation:cds:c.751T>C(p.F251L)(human) 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:1826 epilepsy ISO RGD:1606524 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:28492532 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606524 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:308 early myoclonic encephalopathy ISO RGD:1606524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:30311386 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606524 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:630 genetic disease ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10574461|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29671961|PMID:30139988|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31780880|PMID:31922275|PMID:9536098 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:9000307 Presbycusis ISO RGD:1606524 D RGD:11537394|PMID:24729539 20161004 RGD DNA:mutation:cds:c.533C>T (p.S178L)(human) 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:9006534 Nervous System Malformations ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:27669036|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31257402|PMID:33333793 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:11537392|PMID:25769375 20161004 RGD DNA:mutation:cds:c.457G>A (p.E153K)(human) 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:7240710 20130731 OMIM 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:10574461|PMID:10741954|PMID:18414213|PMID:20727515|PMID:20797691|PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:29671961|PMID:30180405|PMID:30311386|PMID:30335140|PMID:31112829 1306143 Tbc1d24 TBC1 domain family, member 24 gene DOID:9008086 Developmental Disabilities ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:7240710 20150624 OMIM 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to PMID:21907011|PMID:23408866|PMID:25368108|PMID:25741868|PMID:28492532 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1314591 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0111546 Currarino syndrome ISO RGD:1314591 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:12849 autistic disorder ISO RGD:1314591 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:630 genetic disease ISO RGD:1314591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306144 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:9007102 Myocardial Ischemia IEP D RGD:10401145|PMID:16439989 20150929 RGD 1306145 Lrch4 leucine rich repeats and calponin homology domain containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314592 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306145 Lrch4 leucine rich repeats and calponin homology domain containing 4 gene DOID:630 genetic disease ISO RGD:1314592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1314594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1314594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1314594 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1314594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:784 chronic kidney disease ISO RGD:1314594 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 1306146 Pask PAS domain containing serine/threonine kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1306147 Rpusd2 RNA pseudouridine synthase domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1343031 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306147 Rpusd2 RNA pseudouridine synthase domain containing 2 gene DOID:630 genetic disease ISO RGD:1343031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306147 Rpusd2 RNA pseudouridine synthase domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1343031 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1306148 Ecpas Ecm29 proteasome adaptor and scaffold gene DOID:630 genetic disease ISO RGD:1314598 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:0050650 familial atrial fibrillation susceptibility ISO RGD:1603362 D RGD:155882443|PMID:25319568 20230117 RGD DNA:missense mutation:CDS:p.Q175H (human) 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:13938 amenorrhea ISO RGD:1603362 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1603362 D RGD:155882444|PMID:25380965 20230117 RGD DNA:missense mutation:CDS:p.K152Q (human) 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:1969 cerebral palsy ISO RGD:1603362 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:630 genetic disease ISO RGD:1603362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1603362 D RGD:155882448|PMID:15649947 20230118 RGD DNA:missense mutation:CDS:p.F151L (human) 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1603362 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:15649947 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:7240710 20180530 OMIM 1306149 Nkx2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:24421281|PMID:25741868|PMID:28492532 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:0060041 autism spectrum disorder ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:30504930 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:11983 Prader-Willi syndrome ISO RGD:1314601 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:12849 autistic disorder ISO RGD:1314601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851639 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:12849 autistic disorder ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:1932 Angelman syndrome ISO RGD:1314601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:5419 schizophrenia ISO RGD:1314601 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:630 genetic disease ISO RGD:1314601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314601 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306150 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1314601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26950270|PMID:28053010|PMID:28492532 1306151 Fam234b family with sequence similarity 234, member B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1306151 Fam234b family with sequence similarity 234, member B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1306151 Fam234b family with sequence similarity 234, member B gene DOID:630 genetic disease ISO RGD:1605976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306152 Ninl ninein-like gene DOID:0060041 autism spectrum disorder ISO RGD:1604826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1306152 Ninl ninein-like gene DOID:12849 autistic disorder ISO RGD:1604826 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306152 Ninl ninein-like gene DOID:630 genetic disease ISO RGD:1604826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306153 Tmem231 transmembrane protein 231 gene DOID:0050777 Joubert syndrome ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 1306153 Tmem231 transmembrane protein 231 gene DOID:0050778 Meckel syndrome ISO RGD:3008206 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:23349226|PMID:25558065|PMID:25741868 1306153 Tmem231 transmembrane protein 231 gene DOID:0060340 ciliopathy ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:25869670|PMID:28492532 1306153 Tmem231 transmembrane protein 231 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814 1306153 Tmem231 transmembrane protein 231 gene DOID:0080205 CAKUT ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:30143558 1306153 Tmem231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:7240710 20140911 OMIM 1306153 Tmem231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25640679|PMID:25741868|PMID:25869670|PMID:26477546|PMID:26489029|PMID:26982032|PMID:27449316|PMID:27894351|PMID:28289185|PMID:28492532|PMID:31054281|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 1306153 Tmem231 transmembrane protein 231 gene DOID:630 genetic disease ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 1306153 Tmem231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:7240710 20140911 OMIM 1306153 Tmem231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25558065|PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:30143558|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 1306153 Tmem231 transmembrane protein 231 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3008206 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1306154 Copz1 COPI coat complex subunit zeta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314607 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306155 Radil Rap associating with DIL domain gene DOID:11372 megacolon ISO RGD:1604337 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306155 Radil Rap associating with DIL domain gene DOID:630 genetic disease ISO RGD:1604337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306156 Dclre1a DNA cross-link repair 1A gene DOID:630 genetic disease ISO RGD:1314610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306157 Prmt9 protein arginine methyltransferase 9 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1306157 Prmt9 protein arginine methyltransferase 9 gene DOID:630 genetic disease ISO RGD:1601836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306157 Prmt9 protein arginine methyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 1306158 Hoxb9 homeo box B9 gene DOID:630 genetic disease ISO RGD:1314613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306158 Hoxb9 homeo box B9 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1314613 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 1306158 Hoxb9 homeo box B9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314613 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 1306158 Hoxb9 homeo box B9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314613 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 1306158 Hoxb9 homeo box B9 gene DOID:9004268 Uterine Neoplasms ISO RGD:1314613 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 1306158 Hoxb9 homeo box B9 gene DOID:9008939 Breast Neoplasms ISO RGD:1314613 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 1306159 Atp6v0d1 ATPase H+ transporting V0 subunit D1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1314615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1306159 Atp6v0d1 ATPase H+ transporting V0 subunit D1 gene DOID:630 genetic disease ISO RGD:1314615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306160 Lrp1b LDL receptor related protein 1B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1314617 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 1306160 Lrp1b LDL receptor related protein 1B gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1314617 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 1306160 Lrp1b LDL receptor related protein 1B gene DOID:10283 prostate cancer ISO RGD:1314617 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306160 Lrp1b LDL receptor related protein 1B gene DOID:10534 stomach cancer ISO RGD:1314617 D RGD:150429774|PMID:20095042 20210928 RGD DNA:hypermethylation 1306160 Lrp1b LDL receptor related protein 1B gene DOID:10652 Alzheimer's disease onset ISO RGD:1314618 D RGD:151665140|PMID:23150673 20220311 RGD mRNA:increased expression:hippocampus (mouse) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:1324 lung cancer ISO RGD:1314617 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1306160 Lrp1b LDL receptor related protein 1B gene DOID:1324 lung cancer severity ISO RGD:1314617 D RGD:150429789|PMID:33219256 20210929 RGD DNA:mutations: :multiple (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:162 cancer ISO RGD:1314617 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cancer 1306160 Lrp1b LDL receptor related protein 1B gene DOID:1909 melanoma ISO RGD:1314617 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 1306160 Lrp1b LDL receptor related protein 1B gene DOID:1909 melanoma ameliorates ISO RGD:1314617 D RGD:150429775|PMID:31164891 20210928 RGD DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:219 colon cancer ISO RGD:1314617 D RGD:150429777|PMID:28408316 20210928 RGD human cells in a mouse moel 1306160 Lrp1b LDL receptor related protein 1B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1314617 D RGD:150429784|PMID:28522810 20210929 RGD associated with lung adenocarcinoma;DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:3121 gallbladder cancer ameliorates ISO RGD:1314617 D RGD:150429787|PMID:32898339 20210929 RGD DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1314617 D RGD:150429775|PMID:31164891 20210928 RGD DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314617 D RGD:11064706|PMID:18948947 20210929 RGD DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:4450 renal cell carcinoma ISO RGD:1314617 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1306160 Lrp1b LDL receptor related protein 1B gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1314617 D RGD:150429786|PMID:33014052 20210929 RGD DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1314617 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 1306160 Lrp1b LDL receptor related protein 1B gene DOID:630 genetic disease ISO RGD:1314617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306160 Lrp1b LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:150429776|PMID:33324588 20210928 RGD protein:increased expression:liver (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:150429785|PMID:33391418 20210929 RGD DNA:mutations:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:9002189 High Myopia ISO RGD:1314617 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: High myopia 1306160 Lrp1b LDL receptor related protein 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314617 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1306160 Lrp1b LDL receptor related protein 1B gene DOID:9006599 Hypertriglyceridemia treatment HDA D RGD:151665141|PMID:30905023 20220311 RGD 1306160 Lrp1b LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:150429788|PMID:33836681 20210929 RGD DNA:mutations, haplotype:multiple: (human) 1306160 Lrp1b LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:150429790|PMID:31693169 20210929 RGD DNA:mutations, hpalotype:multiple (human) 1306161 Fkbp11 FKBP prolyl isomerase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1314619 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1306161 Fkbp11 FKBP prolyl isomerase 11 gene DOID:630 genetic disease ISO RGD:1314619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306161 Fkbp11 FKBP prolyl isomerase 11 gene DOID:9006205 Animal Disease Models ISO RGD:1314619 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1306163 Ephb6 Eph receptor B6 gene DOID:12365 malaria ISO RGD:1314624 D RGD:127285023|PMID:25784101 20210616 RGD 1306163 Ephb6 Eph receptor B6 gene DOID:2661 myoepithelioma ISO RGD:1314623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1306163 Ephb6 Eph receptor B6 gene DOID:630 genetic disease ISO RGD:1314623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306164 Zcchc24 zinc finger CCHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1314625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:7240710 20141022 OMIM 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24312598|PMID:24719489|PMID:24742043|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:31571321|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314629 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:7240710 20190315 OMIM 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25258038|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:1826 epilepsy ISO RGD:1314629 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314629 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:630 genetic disease ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304 1306167 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1314629 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1306168 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314631 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1306168 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:1749 squamous cell carcinoma ISO RGD:1314631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 1306168 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:37 skin disease ISO RGD:1314631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 1306168 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:5419 schizophrenia ISO RGD:1314631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1306168 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:630 genetic disease ISO RGD:1314631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306168 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:9007964 Arsenic Poisoning ISO RGD:1314631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 1306169 Exosc8 exosome component 8 gene DOID:0050952 spastic ataxia ISO RGD:1314633 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1306169 Exosc8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:7240710 20170405 OMIM 1306169 Exosc8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C PMID:24989451|PMID:25741868|PMID:28492532 1306169 Exosc8 exosome component 8 gene DOID:630 genetic disease ISO RGD:1314633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306171 Tiparp TCDD-inducible poly(ADP-ribose) polymerase gene DOID:630 genetic disease ISO RGD:1314636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306171 Tiparp TCDD-inducible poly(ADP-ribose) polymerase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 1306172 Rnd2 Rho family GTPase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346063 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 1306172 Rnd2 Rho family GTPase 2 gene DOID:630 genetic disease ISO RGD:1346063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306173 Stk32b serine/threonine kinase 32B gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1314640 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1306173 Stk32b serine/threonine kinase 32B gene DOID:2843 long QT syndrome ISO RGD:1314640 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306173 Stk32b serine/threonine kinase 32B gene DOID:630 genetic disease ISO RGD:1314640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306173 Stk32b serine/threonine kinase 32B gene DOID:6678 tooth and nail syndrome ISO RGD:1314640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 1306174 Lhx6 LIM homeobox 6 gene DOID:630 genetic disease ISO RGD:1314642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306176 Fcrla Fc receptor-like A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1606206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 1306176 Fcrla Fc receptor-like A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1306176 Fcrla Fc receptor-like A gene DOID:1540 parathyroid carcinoma ISO RGD:1606206 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306176 Fcrla Fc receptor-like A gene DOID:630 genetic disease ISO RGD:1606206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306176 Fcrla Fc receptor-like A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606206 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1314646 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1314646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306177 Arfgap2 ADP-ribosylation factor GTPase activating protein 2 gene DOID:9000918 Disease Progression ISO RGD:1314646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306178 Slc26a11 solute carrier family 26 member 11 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 1306178 Slc26a11 solute carrier family 26 member 11 gene DOID:630 genetic disease ISO RGD:1314648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306178 Slc26a11 solute carrier family 26 member 11 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1306179 Chrdl2 chordin-like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1314650 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1306179 Chrdl2 chordin-like 2 gene DOID:1059 intellectual disability ISO RGD:1314650 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306179 Chrdl2 chordin-like 2 gene DOID:630 genetic disease ISO RGD:1314650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306180 Leng8 leukocyte receptor cluster member 8 gene DOID:630 genetic disease ISO RGD:1314652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306181 Tmem150b transmembrane protein 150B gene DOID:0080600 COVID-19 ISO RGD:2304150 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306181 Tmem150b transmembrane protein 150B gene DOID:630 genetic disease ISO RGD:2304150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306182 Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1314655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306182 Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1314655 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 1306183 Krr1 KRR1, small subunit processome component homolog gene DOID:630 genetic disease ISO RGD:1314657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306184 Rbm42 RNA binding motif protein 42 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1306184 Rbm42 RNA binding motif protein 42 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1306184 Rbm42 RNA binding motif protein 42 gene DOID:543 dystonia ISO RGD:1601847 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1306184 Rbm42 RNA binding motif protein 42 gene DOID:630 genetic disease ISO RGD:1601847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306185 Arhgap29 Rho GTPase activating protein 29 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17488656 1306185 Arhgap29 Rho GTPase activating protein 29 gene DOID:0080600 COVID-19 ISO RGD:1606326 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306185 Arhgap29 Rho GTPase activating protein 29 gene DOID:0110213 isolated cleft palate ISO RGD:1606326 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868 1306185 Arhgap29 Rho GTPase activating protein 29 gene DOID:630 genetic disease ISO RGD:1606326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306185 Arhgap29 Rho GTPase activating protein 29 gene DOID:9296 cleft lip ISO RGD:1606326 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate PMID:25741868 1306189 Wdr37 WD repeat domain 37 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822 1306189 Wdr37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:7240710 20200219 OMIM 1306189 Wdr37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822|PMID:34642815 1306189 Wdr37 WD repeat domain 37 gene DOID:1059 intellectual disability ISO RGD:1314666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 1306189 Wdr37 WD repeat domain 37 gene DOID:10908 hydrocephalus ISO RGD:1314666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 1306189 Wdr37 WD repeat domain 37 gene DOID:12270 coloboma ISO RGD:1314666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Coloboma PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 1306189 Wdr37 WD repeat domain 37 gene DOID:13938 amenorrhea ISO RGD:1314666 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1306189 Wdr37 WD repeat domain 37 gene DOID:1826 epilepsy ISO RGD:1314666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 1306189 Wdr37 WD repeat domain 37 gene DOID:630 genetic disease ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822 1306189 Wdr37 WD repeat domain 37 gene DOID:9008086 Developmental Disabilities ISO RGD:1314666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 1306189 Wdr37 WD repeat domain 37 gene DOID:9009131 Ventriculomegaly ISO RGD:1314666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 1306191 Parl presenilin associated, rhomboid-like gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1306191 Parl presenilin associated, rhomboid-like gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1306191 Parl presenilin associated, rhomboid-like gene DOID:0111546 Currarino syndrome ISO RGD:1314669 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1306191 Parl presenilin associated, rhomboid-like gene DOID:1024 leprosy ISO RGD:1314669 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 1306191 Parl presenilin associated, rhomboid-like gene DOID:11830 myopia ISO RGD:1314669 D RGD:12902630|PMID:18846214 20170509 RGD DNA:snp:intron:c.511+3941G>A (rs6775202)(human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:2018 hyperinsulinism ISO RGD:1314669 D RGD:12880443|PMID:15729572 20170508 RGD DNA:missense mutation:cds:p.L262V (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:2018 hyperinsulinism no_association ISO RGD:1314669 D RGD:12880445|PMID:19185381 20170508 RGD DNA:missense mutation:cds:p.L262V (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:224 transient cerebral ischemia severity ISO RGD:1550418 D RGD:12902620|PMID:23921894 20170509 RGD 1306191 Parl presenilin associated, rhomboid-like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1314669 D RGD:12902623|PMID:18758826 20170509 RGD DNA:missense mutation:cds:p.L262V (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:3459 breast carcinoma severity ISO RGD:1314669 D RGD:12902629|PMID:24185965 20170509 RGD mRNA:increased expression:breast (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:3652 Leigh disease ISS RGD:1550418 D RGD:13592920 20190314 MouseDO OMIM:220111 | OMIM:256000 1306191 Parl presenilin associated, rhomboid-like gene DOID:630 genetic disease ISO RGD:1314669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306191 Parl presenilin associated, rhomboid-like gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1314669 D RGD:12902617|PMID:20407791 20170509 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:705 Leber hereditary optic neuropathy no_association ISO RGD:1314669 D RGD:12902618|PMID:20711738 20170509 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:9007346 Cachexia ISO RGD:1550418 D RGD:12902627|PMID:16839884 20170509 RGD 1306191 Parl presenilin associated, rhomboid-like gene DOID:9007692 Insulin Resistance IEP D RGD:12880442|PMID:19859837 20170508 RGD mRNA:decreased expression:gastrocnemius (rat) 1306191 Parl presenilin associated, rhomboid-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314669 D RGD:12902628|PMID:20444421 20170509 RGD mRNA:decreased expression:vastus lateralis (human) 1306191 Parl presenilin associated, rhomboid-like gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1314669 D RGD:12880445|PMID:19185381 20170508 RGD DNA:missense mutation:cds:p.L262V (human) 1306192 Ntpcr nucleoside-triphosphatase, cancer-related gene DOID:1540 parathyroid carcinoma ISO RGD:1604264 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306192 Ntpcr nucleoside-triphosphatase, cancer-related gene DOID:630 genetic disease ISO RGD:1604264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306192 Ntpcr nucleoside-triphosphatase, cancer-related gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604264 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306193 Slc25a39 solute carrier family 25, member 39 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604622 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 1306193 Slc25a39 solute carrier family 25, member 39 gene DOID:630 genetic disease ISO RGD:1604622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306196 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:1062 Fanconi syndrome ISO RGD:1314674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1306196 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:630 genetic disease ISO RGD:1314674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306196 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:9002644 Premature Aging ISO RGD:1314674 D RGD:10395359|PMID:21612665 20150902 RGD 1306198 Zfp319 zinc finger protein 319 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306198 Zfp319 zinc finger protein 319 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306198 Zfp319 zinc finger protein 319 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306198 Zfp319 zinc finger protein 319 gene DOID:630 genetic disease ISO RGD:1314677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306199 Baz1a bromodomain adjacent to zinc finger domain, 1A gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1314679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 1306199 Baz1a bromodomain adjacent to zinc finger domain, 1A gene DOID:0111766 X-linked VACTERL association ISO RGD:1314679 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations 1306199 Baz1a bromodomain adjacent to zinc finger domain, 1A gene DOID:630 genetic disease ISO RGD:1314679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306199 Baz1a bromodomain adjacent to zinc finger domain, 1A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314679 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306200 Lrch3 leucine rich repeats and calponin homology domain containing 3 gene DOID:630 genetic disease ISO RGD:1314681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:4450 renal cell carcinoma IEP D RGD:1626565|PMID:10854235 20070810 RGD mRNA:decreased expression:kidney 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:630 genetic disease ISO RGD:1314683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:7240710 20140911 OMIM 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis PMID:12441727|PMID:21835307|PMID:25741868 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314683 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12592389 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314683 D RGD:1626516|PMID:16873698 20070810 RGD protein:increased expression:serum 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9007730 Burns IEP D RGD:1626551|PMID:11742840 20070810 RGD mRNA:increased expression:liver 1306201 Igfbp7 insulin-like growth factor binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1314683 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12592389 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314685 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0080600 COVID-19 ISO RGD:1314685 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314685 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:7240710 20190315 OMIM 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 PMID:17557076|PMID:21931170|PMID:25741868|PMID:28492532 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1314685 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1314685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306202 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:9256 colorectal cancer ISO RGD:1314685 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306203 Serpinb1a serpin family B member 1A gene DOID:630 genetic disease ISO RGD:1314687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306204 Pde6d phosphodiesterase 6D gene DOID:0060476 Perlman syndrome ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1306204 Pde6d phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:7240710 20140911 OMIM 1306204 Pde6d phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:17496142|PMID:17576681|PMID:24166846|PMID:25741868|PMID:28492532|PMID:30423442|PMID:9536098 1306204 Pde6d phosphodiesterase 6D gene DOID:630 genetic disease ISO RGD:1314689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:2154 nephroblastoma ISO RGD:1314644 D RGD:2316755|PMID:12057921 20100714 RGD mRNA:increased expression:kidney 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:630 genetic disease ISO RGD:1314644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314644 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314644 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306205 Cdk15 cyclin-dependent kinase 15 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306206 Kif21b kinesin family member 21B gene DOID:0050453 lissencephaly ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria PMID:25741868 1306206 Kif21b kinesin family member 21B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1343896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1306206 Kif21b kinesin family member 21B gene DOID:1540 parathyroid carcinoma ISO RGD:1343896 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306206 Kif21b kinesin family member 21B gene DOID:2843 long QT syndrome ISO RGD:1343896 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306206 Kif21b kinesin family member 21B gene DOID:630 genetic disease ISO RGD:1343896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306206 Kif21b kinesin family member 21B gene DOID:8577 ulcerative colitis ISO RGD:1343896 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 1306206 Kif21b kinesin family member 21B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1343896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1306206 Kif21b kinesin family member 21B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343896 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32415109 1306206 Kif21b kinesin family member 21B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343896 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306207 Pphln1 periphilin 1 gene DOID:630 genetic disease ISO RGD:1314694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306208 Lkaaear1 LKAAEAR motif containing 1 gene DOID:630 genetic disease ISO RGD:1604727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306209 Zfp746 zinc finger protein 746 gene DOID:630 genetic disease ISO RGD:1606138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306210 Spin1 spindlin 1 gene DOID:630 genetic disease ISO RGD:1314698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:12177 common variable immunodeficiency ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:9536098 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:7240710 20130605 OMIM 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24033266|PMID:24266605|PMID:24292712|PMID:24417819|PMID:24448499|PMID:24931897|PMID:25174867|PMID:25326635|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:26938784|PMID:27418642|PMID:28492532|PMID:28808844|PMID:28930861|PMID:28936210|PMID:29174094|PMID:30443250|PMID:30553809|PMID:31787977|PMID:31814065|PMID:31980526|PMID:32499645|PMID:32531373|PMID:35627206|PMID:9536098 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:3883 Lynch syndrome ISO RGD:1314700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:627 severe combined immunodeficiency ISO RGD:1314700 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:630 genetic disease ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306211 Ttc7a tetratricopeptide repeat domain 7A gene DOID:8893 psoriasis ISS RGD:1314701 D RGD:13592920 20180518 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 1306212 Tmem163 transmembrane protein 163 gene DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170324 RGD 1306212 Tmem163 transmembrane protein 163 gene DOID:630 genetic disease ISO RGD:1604280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306212 Tmem163 transmembrane protein 163 gene DOID:9001632 Hypomyelinating Leukodystrophy 25 ISO RGD:1604280 D RGD:7240710 20230505 OMIM 1306212 Tmem163 transmembrane protein 163 gene DOID:9001632 Hypomyelinating Leukodystrophy 25 ISO RGD:1604280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 PMID:35455965|PMID:35953447 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:10126 keratoconus ISO RGD:1314703 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:1314703 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1314703 D RGD:13506722|PMID:24715215 20180207 RGD 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:630 genetic disease ISO RGD:1314703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18642328 1306213 Pak6 p21 (RAC1) activated kinase 6 gene DOID:9256 colorectal cancer ISO RGD:1314703 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:12712 nephronophthisis ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:1826 epilepsy ISO RGD:1605039 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:303 substance-related disorder ISO RGD:1605039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:630 genetic disease ISO RGD:1605039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306214 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0050777 Joubert syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:0081097 Rafiq syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:1826 epilepsy ISO RGD:1606404 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:3652 Leigh disease ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306215 Paxx PAXX, non-homologous end joining factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306216 Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306216 Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1306216 Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 gene DOID:630 genetic disease ISO RGD:1314707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306217 Pcp2 Purkinje cell protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1306217 Pcp2 Purkinje cell protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1314709 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1306217 Pcp2 Purkinje cell protein 2 gene DOID:630 genetic disease ISO RGD:1314709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306219 Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1306219 Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1607027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306219 Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9352 type 2 diabetes mellitus ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314713 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0081097 Rafiq syndrome ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314713 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:3652 Leigh disease ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:630 genetic disease ISO RGD:1314713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306220 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:9007479 Habitual Abortions ISO RGD:1314713 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 1306221 Mrps12 mitochondrial ribosomal protein S12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1306221 Mrps12 mitochondrial ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:1314714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306221 Mrps12 mitochondrial ribosomal protein S12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1306222 Metrn meteorin, glial cell differentiation regulator gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1306222 Metrn meteorin, glial cell differentiation regulator gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1306222 Metrn meteorin, glial cell differentiation regulator gene DOID:1826 epilepsy ISO RGD:1353878 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306222 Metrn meteorin, glial cell differentiation regulator gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353878 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306222 Metrn meteorin, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1353878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306223 Aqr aquarius intron-binding spliceosomal factor gene DOID:2717 Bloom syndrome ISO RGD:1314717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306223 Aqr aquarius intron-binding spliceosomal factor gene DOID:630 genetic disease ISO RGD:1314717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306223 Aqr aquarius intron-binding spliceosomal factor gene DOID:9256 colorectal cancer ISO RGD:1314717 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306224 Gtsf1l gametocyte specific factor 1-like gene DOID:2234 focal epilepsy ISO RGD:1314719 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1306224 Gtsf1l gametocyte specific factor 1-like gene DOID:630 genetic disease ISO RGD:1314719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306224 Gtsf1l gametocyte specific factor 1-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1314719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1306226 Tprg1 tumor protein p63 regulated 1 gene DOID:5419 schizophrenia ISO RGD:1605237 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306226 Tprg1 tumor protein p63 regulated 1 gene DOID:630 genetic disease ISO RGD:1605237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306227 C2h5orf34 similar to human chromosome 5 open reading frame 34 gene DOID:630 genetic disease ISO RGD:1601916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306227 C2h5orf34 similar to human chromosome 5 open reading frame 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601916 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306229 Setbp1 SET binding protein 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23832011|PMID:26457647 1306229 Setbp1 SET binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1314725 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Lymphoma 1306229 Setbp1 SET binding protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222956 1306229 Setbp1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:7240710 20161116 OMIM 1306229 Setbp1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 PMID:16199547|PMID:18414213|PMID:20436468|PMID:21037274|PMID:23222956|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32460883|PMID:33391157|PMID:34782754 1306229 Setbp1 SET binding protein 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1314725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:18398855|PMID:18414213|PMID:20436468|PMID:21371013|PMID:23222956|PMID:25741868|PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1314725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:18414213|PMID:20436468|PMID:25028416|PMID:25741868|PMID:28346496|PMID:31680123|PMID:34782754 1306229 Setbp1 SET binding protein 1 gene DOID:10534 stomach cancer ISO RGD:1314726 D RGD:11354809|PMID:27006499 20220311 RGD 1306229 Setbp1 SET binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436468|PMID:25217958 1306229 Setbp1 SET binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:1826 epilepsy ISO RGD:1314725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1314725 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1306229 Setbp1 SET binding protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:630 genetic disease ISO RGD:1314725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:32460883|PMID:33391157 1306229 Setbp1 SET binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23832012 1306229 Setbp1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222956|PMID:23832012 1306229 Setbp1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:7240710 20130221 OMIM 1306229 Setbp1 SET binding protein 1 gene DOID:9001389 Schinzel-Giedion Syndrome ISO RGD:1314725 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SETBP1-Related Disorder | ClinVar Annotator: match by term: Schinzel-Giedion syndrome PMID:18398855|PMID:18414213|PMID:20436468|PMID:21037274|PMID:21371013|PMID:23222956|PMID:24033266|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32445275|PMID:32460883|PMID:33391157|PMID:34782754 1306229 Setbp1 SET binding protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1314725 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1306229 Setbp1 SET binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314725 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1306229 Setbp1 SET binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314725 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306229 Setbp1 SET binding protein 1 gene DOID:9004657 Weight Gain ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1306229 Setbp1 SET binding protein 1 gene DOID:9005466 Language Development Disorders ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 1306229 Setbp1 SET binding protein 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1314725 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1306229 Setbp1 SET binding protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 1306229 Setbp1 SET binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306229 Setbp1 SET binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 1306229 Setbp1 SET binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 1306230 Henmt1 HEN methyltransferase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1306230 Henmt1 HEN methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1602307 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306230 Henmt1 HEN methyltransferase 1 gene DOID:14227 azoospermia ISO RGD:1602307 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1306230 Henmt1 HEN methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306231 Rwdd2a RWD domain containing 2A gene DOID:0111953 immunodeficiency 23 ISO RGD:1314728 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 1306231 Rwdd2a RWD domain containing 2A gene DOID:630 genetic disease ISO RGD:1314728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306232 Clec14a C-type lectin domain containing 14A gene DOID:630 genetic disease ISO RGD:1603556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306232 Clec14a C-type lectin domain containing 14A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603556 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:3652 Leigh disease ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306233 Pierce1 piercer of microtubule wall 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 1306234 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1314733 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Lynch syndrome II PMID:21785361 1306234 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1314733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:21785361|PMID:25741868 1306234 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1314733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10422993|PMID:28492532 1306234 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306234 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1306235 Vstm2b V-set and transmembrane domain containing 2B gene DOID:630 genetic disease ISO RGD:1626689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306236 Scrt1 scratch family transcriptional repressor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306236 Scrt1 scratch family transcriptional repressor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306236 Scrt1 scratch family transcriptional repressor 1 gene DOID:4621 holoprosencephaly ISO RGD:1314736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1306236 Scrt1 scratch family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1314736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306238 Angel1 angel homolog 1 gene DOID:1059 intellectual disability ISO RGD:1314740 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1306238 Angel1 angel homolog 1 gene DOID:630 genetic disease ISO RGD:1314740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306239 Zfp523 zinc finger protein 523 gene DOID:0050553 JMP syndrome ISO RGD:1314742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1306239 Zfp523 zinc finger protein 523 gene DOID:630 genetic disease ISO RGD:1314742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306240 Mrpl14 mitochondrial ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:1314744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306241 Dcaf4 DDB1 and CUL4 associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1314746 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1306241 Dcaf4 DDB1 and CUL4 associated factor 4 gene DOID:630 genetic disease ISO RGD:1314746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306242 Htra4 HtrA serine peptidase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1350689 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306242 Htra4 HtrA serine peptidase 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1306242 Htra4 HtrA serine peptidase 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1306242 Htra4 HtrA serine peptidase 4 gene DOID:607 paraplegia ISO RGD:1350689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1306242 Htra4 HtrA serine peptidase 4 gene DOID:630 genetic disease ISO RGD:1350689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306243 Parp16 poly (ADP-ribose) polymerase family, member 16 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350046 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1306243 Parp16 poly (ADP-ribose) polymerase family, member 16 gene DOID:2717 Bloom syndrome ISO RGD:1350046 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306243 Parp16 poly (ADP-ribose) polymerase family, member 16 gene DOID:630 genetic disease ISO RGD:1350046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306243 Parp16 poly (ADP-ribose) polymerase family, member 16 gene DOID:9256 colorectal cancer ISO RGD:1350046 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306244 Rassf7 Ras association domain family member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1306244 Rassf7 Ras association domain family member 7 gene DOID:0050729 neutral lipid storage disease ISO RGD:1314751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1306244 Rassf7 Ras association domain family member 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314751 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1306244 Rassf7 Ras association domain family member 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1306244 Rassf7 Ras association domain family member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1306244 Rassf7 Ras association domain family member 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314751 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1306244 Rassf7 Ras association domain family member 7 gene DOID:630 genetic disease ISO RGD:1314751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306245 Clip3 CAP-GLY domain containing linker protein 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1306245 Clip3 CAP-GLY domain containing linker protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1306245 Clip3 CAP-GLY domain containing linker protein 3 gene DOID:630 genetic disease ISO RGD:1603664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306246 Acss1 acyl-CoA synthetase short-chain family member 1 gene DOID:630 genetic disease ISO RGD:1314754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306246 Acss1 acyl-CoA synthetase short-chain family member 1 gene DOID:9002395 Hypothermia ISO RGD:1615097 D RGD:13831305|PMID:19187775 20181221 RGD 1306246 Acss1 acyl-CoA synthetase short-chain family member 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1314754 D RGD:13831304|PMID:27539851 20181221 RGD 1306247 Tln1 talin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1314756 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 1306247 Tln1 talin 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1306247 Tln1 talin 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1306247 Tln1 talin 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1314756 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1306247 Tln1 talin 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1314756 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1306247 Tln1 talin 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314756 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1306247 Tln1 talin 1 gene DOID:11476 osteoporosis ISO RGD:1314756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1306247 Tln1 talin 1 gene DOID:14400 capillary leak syndrome ISO RGD:1314756 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary leak syndrome PMID:25741868 1306247 Tln1 talin 1 gene DOID:630 genetic disease ISO RGD:1314756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306247 Tln1 talin 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1314756 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1306247 Tln1 talin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 1306247 Tln1 talin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1306247 Tln1 talin 1 gene DOID:9870 galactosemia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1306248 Poglut1 protein O-glucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1604326 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1306248 Poglut1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:7240710 20190315 OMIM 1306248 Poglut1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z PMID:25741868|PMID:27807076|PMID:28492532|PMID:31897643 1306248 Poglut1 protein O-glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306248 Poglut1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:7240710 20140911 OMIM 1306248 Poglut1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 4 PMID:20664185|PMID:21971768|PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910 1306249 Krt33a keratin 33A gene DOID:10283 prostate cancer ISO RGD:1314759 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306249 Krt33a keratin 33A gene DOID:630 genetic disease ISO RGD:1314759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15385440|PMID:15548604|PMID:21937992 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:13506814|PMID:26208971 20180220 RGD DNA:mutations:exons:c.169G>A,c.542G>T(human) 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:13506818|PMID:24894778 20180220 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1550752 D RGD:13506815|PMID:25763823 20180220 RGD 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:13506824|PMID:24573090 20180220 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:7240710 20180307 OMIM 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440|PMID:15548604|PMID:16134148|PMID:16199547|PMID:17576681|PMID:18362286|PMID:18414213|PMID:18415700|PMID:18780161|PMID:19863265|PMID:19911013|PMID:20052767|PMID:21937992|PMID:22030381|PMID:24573090|PMID:25033591|PMID:25741868|PMID:26467025|PMID:26829733|PMID:28492532|PMID:29458334|PMID:32626804|PMID:9536098 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050753 cerebellar ataxia ISO RGD:1314761 D RGD:13506824|PMID:24573090 20180220 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0060587 Noonan syndrome 9 ISO RGD:1314761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:28492532 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0111040 glycogen storage disease IXd ISO RGD:1314761 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1314761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:11832 visual epilepsy ISO RGD:1314761 D RGD:13506818|PMID:24894778 20180220 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1314761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314761 D RGD:13506824|PMID:24573090 20180220 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314761 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306250 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:9006534 Nervous System Malformations ISO RGD:1314761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0050336 hypophosphatemia ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314765 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060249 scoliosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:11398099|PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29130490|PMID:29935003|PMID:30270455|PMID:30578701|PMID:31168818|PMID:33435499|PMID:33786896 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1314765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1314765 D RGD:1599073|PMID:11773004 20070115 RGD 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1314765 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:16116617|PMID:19131948|PMID:25741868|PMID:26370990|PMID:26762237|PMID:30578701|PMID:31046801|PMID:31168818 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:7240710 20130731 OMIM 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:11398099|PMID:11773004|PMID:16116617|PMID:17576681|PMID:19131948|PMID:19890349|PMID:21668430|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:30270455|PMID:30578701|PMID:31046801|PMID:31642606|PMID:32978145|PMID:33435499|PMID:33786896|PMID:9536098 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0080006 bone development disease ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:1059 intellectual disability ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:10907 microcephaly ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:11502 mitral valve insufficiency ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1314765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:1697 ichthyosis ISO RGD:1314765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:26274329|PMID:26578203|PMID:30270455 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:2340 craniosynostosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:630 genetic disease ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:9003430 Sprengel Deformity ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 1306252 Aloxe3 arachidonate lipoxygenase 3 gene DOID:9007661 Dwarfism ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 1306253 Gpr45 G protein-coupled receptor 45 gene DOID:630 genetic disease ISO RGD:1314767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306254 Ap2a1 adaptor related protein complex 2 subunit alpha 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1314769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1306254 Ap2a1 adaptor related protein complex 2 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306255 Sass6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:7240710 20170405 OMIM 1306255 Sass6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive PMID:24951542|PMID:25741868|PMID:30639237 1306255 Sass6 SAS-6 centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1603551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21273447|PMID:25741868 1306255 Sass6 SAS-6 centriolar assembly protein gene DOID:9269 maple syrup urine disease ISO RGD:1603551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:2340 craniosynostosis ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:630 genetic disease ISO RGD:1603894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:9269 maple syrup urine disease ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1306256 Ttc9b tetratricopeptide repeat domain 9B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1306257 Zfp629 zinc finger protein 629 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1314773 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1306257 Zfp629 zinc finger protein 629 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1314773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1306257 Zfp629 zinc finger protein 629 gene DOID:630 genetic disease ISO RGD:1314773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306258 Clca1 chloride channel accessory 1 gene DOID:10320 asbestosis ISO RGD:1314776 D RGD:4145655|PMID:17637221 20101111 RGD mRNA, protein:increased expression:lung 1306258 Clca1 chloride channel accessory 1 gene DOID:1485 cystic fibrosis ISO RGD:1314775 D RGD:4145657|PMID:15218996 20101111 RGD mRNA, protein:increased expression:respiratory system mucosa 1306258 Clca1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314775 D RGD:4145653|PMID:17898169 20101111 RGD 1306258 Clca1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314776 D RGD:4145661|PMID:11296262 20101111 RGD 1306258 Clca1 chloride channel accessory 1 gene DOID:2841 asthma susceptibility ISO RGD:1314775 D RGD:4145656|PMID:15318163 20101111 RGD DNA:SNPs (human) 1306258 Clca1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314775 D RGD:1331524|PMID:14985398 20101111 RGD DNA:SNPs: :multiple (human) 1306258 Clca1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314775 D RGD:4145655|PMID:17637221 20101111 RGD mRNA:increased expression:bronchus 1306258 Clca1 chloride channel accessory 1 gene DOID:630 genetic disease ISO RGD:1314775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306259 Nav3 neuron navigator 3 gene DOID:12849 autistic disorder ISO RGD:1314915 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 1306259 Nav3 neuron navigator 3 gene DOID:2559 opiate dependence ISO RGD:1314915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1306259 Nav3 neuron navigator 3 gene DOID:4450 renal cell carcinoma ISO RGD:1314915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1306259 Nav3 neuron navigator 3 gene DOID:630 genetic disease ISO RGD:1314915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602437 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:1148 polydactyly ISO RGD:1602437 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:630 genetic disease ISO RGD:1602437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306260 Zfand2b zinc finger AN1-type containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602437 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306261 Pkd2l1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:10283 prostate cancer ISO RGD:1314779 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306261 Pkd2l1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1314779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306262 Btbd7 BTB domain containing 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1306262 Btbd7 BTB domain containing 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1306262 Btbd7 BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1345329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306263 Slamf8 SLAM family member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314782 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 1306263 Slamf8 SLAM family member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1306263 Slamf8 SLAM family member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1314782 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306263 Slamf8 SLAM family member 8 gene DOID:630 genetic disease ISO RGD:1314782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306263 Slamf8 SLAM family member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314782 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1314788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:0080600 COVID-19 ISO RGD:1314788 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:11054 urinary bladder cancer ISO RGD:1314788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:1612 breast cancer ISS RGD:1550440 D RGD:13592920 20180518 MouseDO OMIM:114480 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:2671 transitional cell carcinoma ISO RGD:1314788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:630 genetic disease ISO RGD:1314788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306266 Espl1 extra spindle pole bodies like 1, separase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1314788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1306267 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:1605355 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306267 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:5419 schizophrenia ISO RGD:1605355 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306267 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:630 genetic disease ISO RGD:1605355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306267 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:1605355 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306268 Rasl12 RAS-like, family 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 1306268 Rasl12 RAS-like, family 12 gene DOID:13250 diarrhea ISO RGD:1314790 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 1306268 Rasl12 RAS-like, family 12 gene DOID:2717 Bloom syndrome ISO RGD:1314790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306268 Rasl12 RAS-like, family 12 gene DOID:630 genetic disease ISO RGD:1314790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306268 Rasl12 RAS-like, family 12 gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1314790 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 1306268 Rasl12 RAS-like, family 12 gene DOID:9256 colorectal cancer ISO RGD:1314790 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306269 Sipa1l2 signal-induced proliferation-associated 1 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1314792 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306269 Sipa1l2 signal-induced proliferation-associated 1 like 2 gene DOID:630 genetic disease ISO RGD:1314792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306269 Sipa1l2 signal-induced proliferation-associated 1 like 2 gene DOID:9002189 High Myopia ISO RGD:1314792 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306269 Sipa1l2 signal-induced proliferation-associated 1 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314792 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306270 Acad11 acyl-CoA dehydrogenase family, member 11 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1604580 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 PMID:25741868 1306270 Acad11 acyl-CoA dehydrogenase family, member 11 gene DOID:12712 nephronophthisis ISO RGD:1604580 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 1306270 Acad11 acyl-CoA dehydrogenase family, member 11 gene DOID:630 genetic disease ISO RGD:1604580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306270 Acad11 acyl-CoA dehydrogenase family, member 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604580 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1306270 Acad11 acyl-CoA dehydrogenase family, member 11 gene DOID:9270 alkaptonuria ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:0080690 RASopathy ISO RGD:2292705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:7240710 20191030 OMIM 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 86 PMID:25741868|PMID:28492532|PMID:30120214 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:10584 retinitis pigmentosa ISO RGD:2292705 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:3069 malignant astrocytoma ISO RGD:2292705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2292705 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306271 RGD1306271 similar to KIAA1549 protein gene DOID:630 genetic disease ISO RGD:2292705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306272 Spic Spi-C transcription factor gene DOID:630 genetic disease ISO RGD:1314796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306273 Fer FER tyrosine kinase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306273 Fer FER tyrosine kinase gene DOID:630 genetic disease ISO RGD:1314798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306273 Fer FER tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314798 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306273 Fer FER tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306274 Lmf2 lipase maturation factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1306274 Lmf2 lipase maturation factor 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1306274 Lmf2 lipase maturation factor 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606481 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306274 Lmf2 lipase maturation factor 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606481 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1306274 Lmf2 lipase maturation factor 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1306274 Lmf2 lipase maturation factor 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1306274 Lmf2 lipase maturation factor 2 gene DOID:1059 intellectual disability ISO RGD:1606481 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306274 Lmf2 lipase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1606481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306275 Sh3bp1 SH3-domain binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306275 Sh3bp1 SH3-domain binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306275 Sh3bp1 SH3-domain binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306275 Sh3bp1 SH3-domain binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306275 Sh3bp1 SH3-domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1314801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306276 Nedd9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:2377 multiple sclerosis ISO RGD:1314803 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1306276 Nedd9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:630 genetic disease ISO RGD:1314803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0050144 Kartagener syndrome ISS RGD:1332183 D RGD:13592920 20180518 MouseDO 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0050545 visceral heterotaxy ISO RGD:1605540 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:28492532 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0050545 visceral heterotaxy ISS RGD:1332183 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0060041 autism spectrum disorder ISO RGD:1605540 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:7240710 20140911 OMIM 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:16199547|PMID:17576681|PMID:21131972|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:34768622|PMID:9536098 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0111546 Currarino syndrome ISO RGD:1605540 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1605540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:10908 hydrocephalus IMP D RGD:150521527|PMID:31771992 20211109 RGD 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:10908 hydrocephalus ISS RGD:1332183 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:21131972|PMID:23255504|PMID:24498942|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31980526 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:5223 infertility ISO RGD:1605540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:16199547|PMID:21131972|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:630 genetic disease ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:758 situs inversus ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:28492532 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1605540 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:9009131 Ventriculomegaly IMP D RGD:150521527|PMID:31771992 20211109 RGD 1306277 Ccdc39 coiled-coil domain containing 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21131972|PMID:22406018|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28230599|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:33005176|PMID:34768622|PMID:9536098 1306278 Zfp282 zinc finger protein 282 gene DOID:630 genetic disease ISO RGD:1314806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306279 Abr ABR activator of RhoGEF and GTPase gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1314808 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 1306279 Abr ABR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1314808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306279 Abr ABR activator of RhoGEF and GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1306280 Ppp1r8 protein phosphatase 1, regulatory subunit 8 gene DOID:630 genetic disease ISO RGD:1314810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306281 Aamp angio-associated, migratory cell protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1306281 Aamp angio-associated, migratory cell protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1306281 Aamp angio-associated, migratory cell protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1306281 Aamp angio-associated, migratory cell protein gene DOID:630 genetic disease ISO RGD:1607091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306281 Aamp angio-associated, migratory cell protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607091 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306283 Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:630 genetic disease ISO RGD:1314815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306283 Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:7240710 20210505 OMIM 1306283 Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 PMID:25741868|PMID:32385911|PMID:33153867 1306284 Mettl23 methyltransferase 23, arginine gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:7240710 20170510 OMIM 1306284 Mettl23 methyltransferase 23, arginine gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44 PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32067349|PMID:32439618|PMID:32860008 1306284 Mettl23 methyltransferase 23, arginine gene DOID:1059 intellectual disability ISO RGD:2298732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24626631 1306284 Mettl23 methyltransferase 23, arginine gene DOID:1686 glaucoma ISS RGD:1314817 D RGD:13592920 20221215 MouseDO 1306284 Mettl23 methyltransferase 23, arginine gene DOID:630 genetic disease ISO RGD:2298732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32860008 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314818 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314818 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:3652 Leigh disease ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306285 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1314818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0050700 cardiomyopathy ISO RGD:1347008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:7240710 20141015 OMIM 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:33365035|PMID:3344762|PMID:9536098 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:10584 retinitis pigmentosa ISO RGD:1347008 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:10584 retinitis pigmentosa ISS RGD:1314820 D RGD:13592920 20200206 MouseDO 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:1059 intellectual disability ISO RGD:1347008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:10907 microcephaly ISO RGD:1347008 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:332 amyotrophic lateral sclerosis ISS RGD:1314820 D RGD:13592920 20180518 MouseDO 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:612 primary immunodeficiency disease ISO RGD:1347008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:630 genetic disease ISO RGD:1347008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567|PMID:9536098 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347008 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:9005660 Hypopigmentation ISO RGD:1347008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 1306286 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:9008086 Developmental Disabilities ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 1306287 Zfc3h1 zinc finger, C3H1-type containing gene DOID:630 genetic disease ISO RGD:1606690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306287 Zfc3h1 zinc finger, C3H1-type containing gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1306287 Zfc3h1 zinc finger, C3H1-type containing gene DOID:9007661 Dwarfism ISO RGD:1606690 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1306288 Klhl22 kelch-like family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1602999 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1306288 Klhl22 kelch-like family member 22 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1306288 Klhl22 kelch-like family member 22 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1306288 Klhl22 kelch-like family member 22 gene DOID:1059 intellectual disability ISO RGD:1602999 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306288 Klhl22 kelch-like family member 22 gene DOID:11198 DiGeorge syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1306288 Klhl22 kelch-like family member 22 gene DOID:11372 megacolon ISO RGD:1602999 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306288 Klhl22 kelch-like family member 22 gene DOID:12583 velocardiofacial syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1306288 Klhl22 kelch-like family member 22 gene DOID:12849 autistic disorder ISO RGD:1602999 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306288 Klhl22 kelch-like family member 22 gene DOID:1826 epilepsy ISO RGD:1602999 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306288 Klhl22 kelch-like family member 22 gene DOID:2213 hemorrhagic disease ISO RGD:1602999 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1306288 Klhl22 kelch-like family member 22 gene DOID:5419 schizophrenia ISO RGD:1602999 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306288 Klhl22 kelch-like family member 22 gene DOID:612 primary immunodeficiency disease ISO RGD:1602999 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1306288 Klhl22 kelch-like family member 22 gene DOID:630 genetic disease ISO RGD:1602999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306288 Klhl22 kelch-like family member 22 gene DOID:9003871 Venous Thrombosis ISO RGD:1602999 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1306288 Klhl22 kelch-like family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602999 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306288 Klhl22 kelch-like family member 22 gene DOID:9007661 Dwarfism ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1306289 Plpp4 phospholipid phosphatase 4 gene DOID:1612 breast cancer ISO RGD:1351368 D RGD:2314524|PMID:16818692 20091119 RGD mRNA:increased expression:breast 1306289 Plpp4 phospholipid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1351368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306290 Ivns1abp influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:7240710 20200812 OMIM 1306290 Ivns1abp influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Immunodeficiency 70 PMID:32499645 1306290 Ivns1abp influenza virus NS1A binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1314824 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306290 Ivns1abp influenza virus NS1A binding protein gene DOID:630 genetic disease ISO RGD:1314824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306290 Ivns1abp influenza virus NS1A binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 1306290 Ivns1abp influenza virus NS1A binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314824 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306291 Slc39a2 solute carrier family 39 member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1314826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1306291 Slc39a2 solute carrier family 39 member 2 gene DOID:630 genetic disease ISO RGD:1314826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306291 Slc39a2 solute carrier family 39 member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306292 Trdmt1 tRNA aspartic acid methyltransferase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606039 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1306292 Trdmt1 tRNA aspartic acid methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306292 Trdmt1 tRNA aspartic acid methyltransferase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 1306294 Mlf2 myeloid leukemia factor 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1314832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1306294 Mlf2 myeloid leukemia factor 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1314832 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1306294 Mlf2 myeloid leukemia factor 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1314832 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1306294 Mlf2 myeloid leukemia factor 2 gene DOID:630 genetic disease ISO RGD:1314832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306294 Mlf2 myeloid leukemia factor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1314832 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1306295 Clec3a C-type lectin domain family 3, member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604398 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1306295 Clec3a C-type lectin domain family 3, member A gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1604398 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 1306295 Clec3a C-type lectin domain family 3, member A gene DOID:630 genetic disease ISO RGD:1604398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306297 Pcdh20 protocadherin 20 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314837 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306297 Pcdh20 protocadherin 20 gene DOID:630 genetic disease ISO RGD:1314837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306298 Fbh1 F-box DNA helicase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314839 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1306298 Fbh1 F-box DNA helicase 1 gene DOID:10283 prostate cancer ISO RGD:1314839 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306298 Fbh1 F-box DNA helicase 1 gene DOID:5419 schizophrenia ISO RGD:1314839 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306298 Fbh1 F-box DNA helicase 1 gene DOID:630 genetic disease ISO RGD:1314839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306299 Ipp intracisternal A particle-promoted polypeptide gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1306299 Ipp intracisternal A particle-promoted polypeptide gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314841 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306299 Ipp intracisternal A particle-promoted polypeptide gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1306299 Ipp intracisternal A particle-promoted polypeptide gene DOID:13938 amenorrhea ISO RGD:1314841 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1306299 Ipp intracisternal A particle-promoted polypeptide gene DOID:630 genetic disease ISO RGD:1314841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306299 Ipp intracisternal A particle-promoted polypeptide gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314841 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1306300 Eef1akmt2 EEF1A lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306301 Btbd10 BTB domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1601947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306301 Btbd10 BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1601947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306302 Fam133b family with sequence similarity 133, member B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606931 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306302 Fam133b family with sequence similarity 133, member B gene DOID:630 genetic disease ISO RGD:1606931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306304 Tmem203 transmembrane protein 203 gene DOID:0050777 Joubert syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306304 Tmem203 transmembrane protein 203 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1306304 Tmem203 transmembrane protein 203 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1605598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1306304 Tmem203 transmembrane protein 203 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306304 Tmem203 transmembrane protein 203 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1306304 Tmem203 transmembrane protein 203 gene DOID:0081097 Rafiq syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1306304 Tmem203 transmembrane protein 203 gene DOID:1826 epilepsy ISO RGD:1605598 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306304 Tmem203 transmembrane protein 203 gene DOID:630 genetic disease ISO RGD:1605598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306304 Tmem203 transmembrane protein 203 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306305 Tjp1 tight junction protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314849 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306305 Tjp1 tight junction protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 1306305 Tjp1 tight junction protein 1 gene DOID:1059 intellectual disability ISO RGD:1314849 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306305 Tjp1 tight junction protein 1 gene DOID:10825 essential hypertension ISO RGD:1314849 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 1306305 Tjp1 tight junction protein 1 gene DOID:12849 autistic disorder ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1306305 Tjp1 tight junction protein 1 gene DOID:13141 uveitis IEP D RGD:2325139|PMID:18587491 20100520 RGD protein:decreased expression, altered localization: corneal endothelium 1306305 Tjp1 tight junction protein 1 gene DOID:13580 cholestasis IEP D RGD:2325141|PMID:18197414 20100520 RGD protein:increased expression:liver 1306305 Tjp1 tight junction protein 1 gene DOID:13976 peptic esophagitis IEP D RGD:2325133|PMID:19653339 20100520 RGD 1306305 Tjp1 tight junction protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1314849 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1306305 Tjp1 tight junction protein 1 gene DOID:2316 brain ischemia IEP D RGD:2325131|PMID:19712057 20100520 RGD protein:decreased expression:brain 1306305 Tjp1 tight junction protein 1 gene DOID:4606 bile duct cancer ISO RGD:1314849 D RGD:2325030|PMID:19184677 20100519 RGD protein:decreased expression:bile duct 1306305 Tjp1 tight junction protein 1 gene DOID:4724 brain edema ISO RGD:1314849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 1306305 Tjp1 tight junction protein 1 gene DOID:4948 gallbladder carcinoma ISO RGD:1314849 D RGD:2325030|PMID:19184677 20100519 RGD protein:decreased expression:gallbladder 1306305 Tjp1 tight junction protein 1 gene DOID:5419 schizophrenia ISO RGD:1314849 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306305 Tjp1 tight junction protein 1 gene DOID:630 genetic disease ISO RGD:1314849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306305 Tjp1 tight junction protein 1 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:2317627|PMID:19390485 20100520 RGD protein:increased expression:liver 1306305 Tjp1 tight junction protein 1 gene DOID:9000438 Subarachnoid Hemorrhage IDA D RGD:2325137|PMID:18854840 20100520 RGD protein:altered localization 1306305 Tjp1 tight junction protein 1 gene DOID:9000641 Pain IEP D RGD:2325136|PMID:19319146 20100520 RGD associated with Inflammation;protein:increased expression:brain 1306305 Tjp1 tight junction protein 1 gene DOID:9000998 Brain Injuries IEP D RGD:2325128|PMID:19889224 20100520 RGD 1306305 Tjp1 tight junction protein 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:2325138|PMID:18848892 20100520 RGD 1306305 Tjp1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2325127|PMID:19929946 20100520 RGD 1306305 Tjp1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2325135|PMID:19374856 20100520 RGD protein:decreased expression:brain, endothelial cell 1306305 Tjp1 tight junction protein 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325150|PMID:16567508 20100520 RGD protein:decreased expression:glomerulus 1306305 Tjp1 tight junction protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314850 D RGD:2325150|PMID:16567508 20100520 RGD protein:decreased expression:glomerulus 1306305 Tjp1 tight junction protein 1 gene DOID:936 brain disease IEP D RGD:2325131|PMID:19712057 20100520 RGD associate with Pancreatitis, Acute Necrotizing 1306306 Atg12 autophagy related 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306306 Atg12 autophagy related 12 gene DOID:12849 autistic disorder ISO RGD:1314851 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306306 Atg12 autophagy related 12 gene DOID:630 genetic disease ISO RGD:1314851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306306 Atg12 autophagy related 12 gene DOID:9000998 Brain Injuries IEP D RGD:2301217|PMID:18059433 20081001 RGD protein:altered localization:brain 1306306 Atg12 autophagy related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314851 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306306 Atg12 autophagy related 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:10584 retinitis pigmentosa ISS RGD:1314854 D RGD:13592920 20220915 MouseDO 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1314853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:7240710 20190501 OMIM 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy PMID:25741868|PMID:30420557|PMID:33624935 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16952463 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314853 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Global developmental delay 1306307 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1314853 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:25741868|PMID:30420557 1306310 Mbip MAP3K12 binding inhibitory protein 1 gene DOID:12859 choreatic disease ISO RGD:1314857 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 1306310 Mbip MAP3K12 binding inhibitory protein 1 gene DOID:630 genetic disease ISO RGD:1314857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306310 Mbip MAP3K12 binding inhibitory protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306311 Lamb1 laminin subunit beta 1 gene DOID:0050453 lissencephaly ISO RGD:1314859 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1306311 Lamb1 laminin subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314859 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1306311 Lamb1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:7240710 20140911 OMIM 1306311 Lamb1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:23472759|PMID:25326635|PMID:25741868|PMID:25925986|PMID:28492532 1306311 Lamb1 laminin subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1314859 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306311 Lamb1 laminin subunit beta 1 gene DOID:12270 coloboma ISO RGD:1314859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18809619 1306311 Lamb1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15523497 1306311 Lamb1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:1624317|PMID:15523497 20070508 RGD 1306311 Lamb1 laminin subunit beta 1 gene DOID:289 endometriosis ISO RGD:1314859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1306311 Lamb1 laminin subunit beta 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1314859 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 1306311 Lamb1 laminin subunit beta 1 gene DOID:3652 Leigh disease ISO RGD:1314859 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 1306311 Lamb1 laminin subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1314859 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28444932 1306311 Lamb1 laminin subunit beta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306311 Lamb1 laminin subunit beta 1 gene DOID:630 genetic disease ISO RGD:1314859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306311 Lamb1 laminin subunit beta 1 gene DOID:8577 ulcerative colitis ISO RGD:1314859 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 1306311 Lamb1 laminin subunit beta 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1314859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 1306311 Lamb1 laminin subunit beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314859 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 1306312 Wnt8a Wnt family member 8A gene DOID:0060224 atrial fibrillation ISO RGD:1314861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 1306312 Wnt8a Wnt family member 8A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314861 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1306312 Wnt8a Wnt family member 8A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306312 Wnt8a Wnt family member 8A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1314861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1306312 Wnt8a Wnt family member 8A gene DOID:10892 hypospadias ISO RGD:1314861 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 1306312 Wnt8a Wnt family member 8A gene DOID:630 genetic disease ISO RGD:1314861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306312 Wnt8a Wnt family member 8A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314861 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306312 Wnt8a Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1306312 Wnt8a Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306313 Adh6 alcohol dehydrogenase 6 (class V) gene DOID:0060041 autism spectrum disorder ISO RGD:1314863 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306313 Adh6 alcohol dehydrogenase 6 (class V) gene DOID:630 genetic disease ISO RGD:1314863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306315 Rpl3l ribosomal protein L3-like gene DOID:0050700 cardiomyopathy ISO RGD:1314865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:32514796|PMID:32870709 1306315 Rpl3l ribosomal protein L3-like gene DOID:0060224 atrial fibrillation ISO RGD:1314865 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1306315 Rpl3l ribosomal protein L3-like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1306315 Rpl3l ribosomal protein L3-like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:7240710 20210616 OMIM 1306315 Rpl3l ribosomal protein L3-like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D PMID:25741868|PMID:32514796|PMID:32870709 1306315 Rpl3l ribosomal protein L3-like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1306315 Rpl3l ribosomal protein L3-like gene DOID:1826 epilepsy ISO RGD:1314865 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306315 Rpl3l ribosomal protein L3-like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314865 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306315 Rpl3l ribosomal protein L3-like gene DOID:630 genetic disease ISO RGD:1314865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306315 Rpl3l ribosomal protein L3-like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1306316 Jrk Jrk helix-turn-helix protein gene DOID:1825 childhood absence epilepsy ISO RGD:1314867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 1306316 Jrk Jrk helix-turn-helix protein gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1314867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 1306316 Jrk Jrk helix-turn-helix protein gene DOID:630 genetic disease ISO RGD:1314867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306316 Jrk Jrk helix-turn-helix protein gene DOID:9001793 Generalized Epilepsy ISO RGD:1314867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 1306319 Tmed4 transmembrane p24 trafficking protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352955 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306319 Tmed4 transmembrane p24 trafficking protein 4 gene DOID:630 genetic disease ISO RGD:1352955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306320 Pelp1 proline, glutamate and leucine rich protein 1 gene DOID:630 genetic disease ISO RGD:1604366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306320 Pelp1 proline, glutamate and leucine rich protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604366 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1306321 Tfap2b transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:7240710 20130221 OMIM 1306321 Tfap2b transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Char syndrome PMID:10368122|PMID:10802654|PMID:10955477|PMID:11505339|PMID:15684060|PMID:2010091|PMID:20301285|PMID:21643846|PMID:24507797|PMID:25741868|PMID:29555671|PMID:31012281|PMID:31292255|PMID:7645594|PMID:8326495 1306321 Tfap2b transcription factor AP-2 beta gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1314875 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868 1306321 Tfap2b transcription factor AP-2 beta gene DOID:13550 angle-closure glaucoma ISS RGD:1314876 D RGD:13592920 20180518 MouseDO 1306321 Tfap2b transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10802654|PMID:19336370 1306321 Tfap2b transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus susceptibility ISO RGD:1314875 D RGD:1601543|PMID:10802654 20070424 RGD Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C 1306321 Tfap2b transcription factor AP-2 beta gene DOID:630 genetic disease ISO RGD:1314875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15684060|PMID:28492532|PMID:31292255 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9003133 Hypertelorism ISO RGD:1314875 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10802654|PMID:11505339|PMID:2010091|PMID:25741868 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:7240710 20190315 OMIM 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 2 PMID:15684060|PMID:18752453|PMID:20301285|PMID:21643846 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9004795 Congenital Hand Deformities ISO RGD:1314875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9007633 Body Weight ISO RGD:1314875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9007692 Insulin Resistance ISO RGD:1314875 D RGD:1601544|PMID:16373417 20070424 RGD 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 1306321 Tfap2b transcription factor AP-2 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 1306322 Tshz3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314877 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27668656 1306322 Tshz3 teashirt zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1314877 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306322 Tshz3 teashirt zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1314877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306322 Tshz3 teashirt zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314877 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306323 Osgin2 oxidative stress induced growth inhibitor family member 2 gene DOID:630 genetic disease ISO RGD:1314879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306323 Osgin2 oxidative stress induced growth inhibitor family member 2 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1314879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351700 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1351700 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1351700 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1351700 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1351700 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:630 genetic disease ISO RGD:1351700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351700 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1351700 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1306324 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306325 Ppan peter pan homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1314882 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1306325 Ppan peter pan homolog gene DOID:630 genetic disease ISO RGD:1314882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306325 Ppan peter pan homolog gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1314882 D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 1306325 Ppan peter pan homolog gene DOID:9006205 Animal Disease Models ISO RGD:1314882 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1306327 Fam107a family with sequence similarity 107, member A gene DOID:3070 high grade glioma ISO RGD:1605094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 1306327 Fam107a family with sequence similarity 107, member A gene DOID:630 genetic disease ISO RGD:1605094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306328 Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314887 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306328 Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 gene DOID:630 genetic disease ISO RGD:1314887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1314890 D RGD:1600155|PMID:10866301 20070228 RGD squamous cell carcinoma of the head and neck, OMIM:275355 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:2222 factor X deficiency ISO RGD:1314890 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:2773 contact dermatitis ISO RGD:1314890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:7240710 20130221 OMIM 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:8554872 20140812 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866301 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:630 genetic disease ISO RGD:1314890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:9000918 Disease Progression ISO RGD:1314890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306330 Ing1 inhibitor of growth family, member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314890 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1306331 EIF1AY eukaryotic translation initiation factor 1A Y-linked gene DOID:12849 autistic disorder ISO RGD:14351992 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:21681106|PMID:30208311 1306332 Asnsd1 asparagine synthetase domain containing 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1306332 Asnsd1 asparagine synthetase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306332 Asnsd1 asparagine synthetase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603641 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306333 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:7240710 20190315 OMIM 1306333 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 PMID:25741868|PMID:27132592 1306333 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:630 genetic disease ISO RGD:1314894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306333 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27132592 1306334 Ifna4 interferon, alpha 4 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1621621 D RGD:30309198|PMID:30626685 20200618 RGD 1306334 Ifna4 interferon, alpha 4 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1314896 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1306334 Ifna4 interferon, alpha 4 gene DOID:5419 schizophrenia ISO RGD:1314896 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306334 Ifna4 interferon, alpha 4 gene DOID:630 genetic disease ISO RGD:1314896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306335 Arid3b AT-rich interaction domain 3B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1306335 Arid3b AT-rich interaction domain 3B gene DOID:2717 Bloom syndrome ISO RGD:1314897 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306335 Arid3b AT-rich interaction domain 3B gene DOID:5419 schizophrenia ISO RGD:1314897 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306335 Arid3b AT-rich interaction domain 3B gene DOID:630 genetic disease ISO RGD:1314897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306335 Arid3b AT-rich interaction domain 3B gene DOID:9256 colorectal cancer ISO RGD:1314897 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0060041 autism spectrum disorder ISO RGD:1314899 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1314899 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1314899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0110231 cataract 1 multiple types ISO RGD:1314899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1314899 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:1540 parathyroid carcinoma ISO RGD:1314899 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:5419 schizophrenia ISO RGD:1314899 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:630 genetic disease ISO RGD:1314899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314899 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1314899 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1306336 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314899 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306337 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1306337 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:630 genetic disease ISO RGD:1314901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306337 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 1306337 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314901 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1306337 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9270 alkaptonuria ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1306338 Rnd1 Rho family GTPase 1 gene DOID:630 genetic disease ISO RGD:1314903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306339 Zfp110 zinc finger protein 110 gene DOID:630 genetic disease ISO RGD:1347715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306339 Zfp110 zinc finger protein 110 gene DOID:9002955 Nerve Degeneration ISO RGD:1314905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18815271 1306341 Lcn9 lipocalin 9 gene DOID:0050777 Joubert syndrome ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306341 Lcn9 lipocalin 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1306341 Lcn9 lipocalin 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306341 Lcn9 lipocalin 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306341 Lcn9 lipocalin 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306341 Lcn9 lipocalin 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1306341 Lcn9 lipocalin 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1306341 Lcn9 lipocalin 9 gene DOID:3652 Leigh disease ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306341 Lcn9 lipocalin 9 gene DOID:630 genetic disease ISO RGD:1345733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306341 Lcn9 lipocalin 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1306344 Znfx1 zinc finger, NFX1-type containing 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1603622 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 1306344 Znfx1 zinc finger, NFX1-type containing 1 gene DOID:630 genetic disease ISO RGD:1603622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306344 Znfx1 zinc finger, NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:7240710 20220209 OMIM 1306344 Znfx1 zinc finger, NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation PMID:25741868|PMID:33872655|PMID:33876776 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1314912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:1059 intellectual disability ISO RGD:1314912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis IDA D RGD:10755697|PMID:11771960 20160203 RGD associated with Lupus Erythematosus, Systemic in humans 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria IDA D RGD:10755721|PMID:16418806 20160203 RGD associated with Lupus Erythematosus, Systemic in a mouse model 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:65 connective tissue disease ISO RGD:1314912 D RGD:10755695|PMID:2477448 20160203 RGD 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity IDA D RGD:10755713|PMID:12571858 20160203 RGD mouse model 1306345 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9261 nasopharynx carcinoma ISO RGD:1314912 D RGD:10755709|PMID:24080422 20160203 RGD mRNA:increased expression:nasopharynx (human) 1306346 Ubxn7 UBX domain protein 7 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1607058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1306346 Ubxn7 UBX domain protein 7 gene DOID:12849 autistic disorder ISO RGD:1607058 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306346 Ubxn7 UBX domain protein 7 gene DOID:5419 schizophrenia ISO RGD:1607058 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306346 Ubxn7 UBX domain protein 7 gene DOID:630 genetic disease ISO RGD:1607058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306348 Pcdh9 protocadherin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 1306348 Pcdh9 protocadherin 9 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314916 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306348 Pcdh9 protocadherin 9 gene DOID:630 genetic disease ISO RGD:1314916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306349 Fmn1 formin 1 gene DOID:630 genetic disease ISO RGD:1606398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:7240710 20190315 OMIM 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASH1L-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52 PMID:23033978|PMID:25363760|PMID:25741868|PMID:25961944|PMID:27824329|PMID:28191889|PMID:28394464|PMID:28492532|PMID:29276005 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0111940 immunodeficiency 42 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1314918 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1314918 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1314918 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:5812 MHC class II deficiency ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30564305 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314918 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314918 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1314918 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1314918 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306350 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314918 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306351 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050453 lissencephaly ISO RGD:1605568 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1306351 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050777 Joubert syndrome ISO RGD:1605568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 1306351 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:7240710 20190315 OMIM 1306351 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 8 PMID:25741868|PMID:27773428|PMID:28097321|PMID:28492532|PMID:28973161 1306351 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:630 genetic disease ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306353 Zmym5 zinc finger MYM-type containing 5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1306353 Zmym5 zinc finger MYM-type containing 5 gene DOID:630 genetic disease ISO RGD:1343268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306354 Svil supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:7240710 20201021 OMIM 1306354 Svil supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 10 PMID:25741868|PMID:28492532|PMID:32779703 1306354 Svil supervillin gene DOID:630 genetic disease ISO RGD:1314924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306354 Svil supervillin gene DOID:684 hepatocellular carcinoma ISO RGD:1314924 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1306354 Svil supervillin gene DOID:9119 acute myeloid leukemia ISO RGD:1314924 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1306355 Sp140 SP140 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1306355 Sp140 SP140 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1306355 Sp140 SP140 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 1306355 Sp140 SP140 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1314926 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599 1306355 Sp140 SP140 nuclear body protein gene DOID:630 genetic disease ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306355 Sp140 SP140 nuclear body protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306355 Sp140 SP140 nuclear body protein gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 1306356 Slc38a10 solute carrier family 38, member 10 gene DOID:630 genetic disease ISO RGD:1601937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306357 Sun5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:7240710 20190315 OMIM 1306357 Sun5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 16 PMID:25741868|PMID:27640305|PMID:28492532|PMID:29331481 1306357 Sun5 Sad1 and UNC84 domain containing 5 gene DOID:630 genetic disease ISO RGD:1314928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306359 Fiz1 FLT3-interacting zinc finger 1 gene DOID:630 genetic disease ISO RGD:1605920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306360 Chfr checkpoint with forkhead and ring finger domains gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20705357 1306360 Chfr checkpoint with forkhead and ring finger domains gene DOID:630 genetic disease ISO RGD:1314932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306360 Chfr checkpoint with forkhead and ring finger domains gene DOID:9000217 Stomach Neoplasms ISO RGD:1314932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1306360 Chfr checkpoint with forkhead and ring finger domains gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17143476 1306360 Chfr checkpoint with forkhead and ring finger domains gene DOID:9256 colorectal cancer ISO RGD:1314932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:0060041 autism spectrum disorder ISO RGD:1314934 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:1314934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:25741868 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1059 intellectual disability ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14981718|PMID:15054837|PMID:18414213|PMID:19213023|PMID:25212744|PMID:25326635|PMID:25741868|PMID:28492532|PMID:9887341 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:11983 Prader-Willi syndrome ISO RGD:1314934 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:12849 autistic disorder ISO RGD:1314934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11543639|PMID:19404257|PMID:20609483 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:12849 autistic disorder ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1826 epilepsy ISO RGD:1314934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome IMP D RGD:126790466|PMID:32066685 20210422 RGD 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:1358469|PMID:8988171 20070510 RGD 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:7240710 20130221 OMIM 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10647895|PMID:11748306|PMID:12210318|PMID:12725589|PMID:14981718|PMID:15054837|PMID:15150776|PMID:15263005|PMID:16199547|PMID:16470747|PMID:17576681|PMID:17765640|PMID:17940072|PMID:18414213|PMID:18821858|PMID:19213023|PMID:20034088|PMID:21072004|PMID:22190369|PMID:22670133|PMID:2309781|PMID:23495136|PMID:23708187|PMID:24088041|PMID:24796722|PMID:24876791|PMID:25099823|PMID:25212744|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25884337|PMID:26068938|PMID:26219744|PMID:26255772|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26993267|PMID:27864847|PMID:28281572|PMID:28492532|PMID:29162042|PMID:29188609|PMID:29655203|PMID:29737008|PMID:29758562|PMID:29915382|PMID:31235931|PMID:34906502|PMID:8988171|PMID:8988172|PMID:9536098|PMID:9585605|PMID:9792887|PMID:9887341 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome treatment ISO RGD:1314935 D RGD:12859273|PMID:25866966 20170413 RGD 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome treatment ISO RGD:1314935 D RGD:12859274|PMID:25470045 20170413 RGD 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:5419 schizophrenia ISO RGD:1314934 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:630 genetic disease ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14981718|PMID:15054837|PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:18414213|PMID:19213023|PMID:22670133|PMID:2309781|PMID:24876791|PMID:25212744|PMID:25326635|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26255772|PMID:26467025|PMID:28492532|PMID:29188609|PMID:8988171|PMID:9887341 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314934 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:9008086 Developmental Disabilities ISO RGD:1314934 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Global developmental delay 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:9008582 Developmental Disease ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306361 Ube3a ubiquitin protein ligase E3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 1306363 Wdr41 WD repeat domain 41 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1314938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 1306363 Wdr41 WD repeat domain 41 gene DOID:630 genetic disease ISO RGD:1314938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306363 Wdr41 WD repeat domain 41 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314938 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:0050471 Carney complex ISO RGD:1314939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:11115848|PMID:19293268|PMID:24170103|PMID:28492532 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:7240710 20171011 OMIM 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:18597613|PMID:21549343|PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28086997|PMID:28492532|PMID:32246227 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:14669 acrodysostosis ISO RGD:1314939 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:28492532 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:630 genetic disease ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1306364 Fam20a FAM20A, golgi associated secretory pathway pseudokinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314939 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1314941 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:1059 intellectual disability ISO RGD:1314941 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:11198 DiGeorge syndrome ISO RGD:1314941 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:11198 DiGeorge syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:11372 megacolon ISO RGD:1314941 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:12583 velocardiofacial syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:12849 autistic disorder ISO RGD:1314941 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:150 disease of mental health ISO RGD:1314941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18469815 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:1826 epilepsy ISO RGD:1314941 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:2154 nephroblastoma ISO RGD:1314941 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1314941 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:5419 schizophrenia ISO RGD:1314941 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:612 primary immunodeficiency disease ISO RGD:1314941 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:630 genetic disease ISO RGD:1314941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:9003871 Venous Thrombosis ISO RGD:1314941 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314941 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306365 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:9007661 Dwarfism ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314942 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314942 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:1059 intellectual disability ISO RGD:1314942 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314942 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1314942 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314942 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:630 genetic disease ISO RGD:1314942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26138117|PMID:26153217|PMID:26801221|PMID:27108999|PMID:28492532|PMID:33526774 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:7240710 20190315 OMIM 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:32921582|PMID:33526774 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314942 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004447 Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability PMID:26153217|PMID:27108999 1306366 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9256 colorectal cancer ISO RGD:1314942 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306367 Gtpbp2 GTP binding protein 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306367 Gtpbp2 GTP binding protein 2 gene DOID:13580 cholestasis ISO RGD:1314943 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1306367 Gtpbp2 GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1314943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306367 Gtpbp2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:7240710 20190315 OMIM 1306367 Gtpbp2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 1306367 Gtpbp2 GTP binding protein 2 gene DOID:905 Zellweger syndrome ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21983784|PMID:26192919|PMID:28450277 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Regional enteritis PMID:11385576|PMID:11385577|PMID:11425413|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:11528384|PMID:15086578|PMID:15459013|PMID:19467619 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:7240710 20130221 OMIM 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17009307|PMID:17069729|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17372104|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17916199|PMID:17941079|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28721627|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33692434|PMID:34251956|PMID:7825454|PMID:9124059|PMID:9536098 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:8158040|PMID:11528384 20140205 RGD DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:8158051|PMID:19116920 20140206 RGD DNA:snp:cds:p.E383G (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:8547515|PMID:15812565 20140213 RGD DNA:snp:cds:p.E383K (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:8547518|PMID:19479837 20140213 RGD DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1314945 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs3135499) C>A (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:1314945 D RGD:5508759|PMID:20230816 20111021 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0060180 colitis IEP D RGD:1600781|PMID:16891783 20070327 RGD mRNA:increased expression:colon 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1314946 D RGD:5508727|PMID:21471573 20111020 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1314946 D RGD:5508755|PMID:20921147 20111020 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1314945 D RGD:7800668|PMID:23691182 20140115 RGD DNA:SNP,haplotype: :SNP8(human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1314945 D RGD:8158050|PMID:15090455 20140206 RGD DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0110892 inflammatory bowel disease 1 ISS RGD:1314946 D RGD:13592920 20180518 MouseDO OMIM:266600 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:0111122 nephronophthisis 14 ISO RGD:1314945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:1024 leprosy ISO RGD:1314945 D RGD:5508743|PMID:20350193 20111020 RGD DNA:polymorphisms: :multiple (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:1024 leprosy ISO RGD:1314945 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:104 bacterial infectious disease ISO RGD:1314946 D RGD:5508748|PMID:21669398 20111020 RGD associated with Virus Diseases 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:10457 Legionnaires' disease ISO RGD:1314946 D RGD:5131443|PMID:20685341 20110427 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:11729 Lyme disease ISO RGD:1314946 D RGD:5508754|PMID:21387014 20111020 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314945 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:13141 uveitis ISO RGD:1314946 D RGD:5508729|PMID:21296813 20111020 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1314945 D RGD:5131514|PMID:16267612 20110502 RGD DNA:insertion: : 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease ISO RGD:1314945 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:28492532 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1314945 D RGD:13204711|PMID:15515785 20170714 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1314945 D RGD:8158059|PMID:19748964 20140206 RGD DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2104C>T (human) PMID:19679608|REF_RGD_ID:4892066 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1314945 D RGD:5131514|PMID:16267612 20110502 RGD DNA:insertion: : 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:1936 atherosclerosis ISO RGD:1314946 D RGD:8158039|PMID:24324141 20140205 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:224 transient cerebral ischemia ISO RGD:1314946 D RGD:5508733|PMID:20863826 20111020 RGD mRNA, protein:increased expression:brain 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1314945 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1314945 D RGD:13204725|PMID:20595247 20170717 RGD DNA:SNPs: :rs3135499,rs2066842(human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2394 ovarian cancer ISO RGD:1314945 D RGD:5131515|PMID:20223031 20110502 RGD DNA:insertion:Cds: 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2596 larynx cancer onset ISO RGD:1314945 D RGD:5131515|PMID:20223031 20110502 RGD DNA:insertion:Cds: 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2723 dermatitis ISO RGD:1314945 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:19467619 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1314945 D RGD:5131450|PMID:18158963 20110427 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2841 asthma ISO RGD:1314946 D RGD:5508757|PMID:21051079 20111021 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2841 asthma susceptibility ISO RGD:1314945 D RGD:5131477|PMID:16008671 20110429 RGD DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958|PMID:9536098 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1314945 D RGD:5131510|PMID:18419343 20110502 RGD DNA:SNPs:CDs:p.P268S, R702W, A725G (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:2987 familial Mediterranean fever severity ISO RGD:1314945 D RGD:13204709|PMID:22244368 20170714 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314945 D RGD:5508720|PMID:21943069 20111020 RGD DNA:SNP:intron: (rs1077861) (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:3393 coronary artery disease ISO RGD:1314945 D RGD:5508725|PMID:21565239 20111020 RGD DNA:polymorphisms: :p.G908R, 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13204729|PMID:24842554 20170717 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:4029 gastritis ISO RGD:1314945 D RGD:5508759|PMID:20230816 20111021 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:417 autoimmune disease ISO RGD:1314945 D RGD:5508739|PMID:20646002 20111020 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:4481 allergic rhinitis ISO RGD:1314945 D RGD:8547523|PMID:23858718 20140213 RGD mRNA:increased expression:nasal mucosa (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1314945 D RGD:5131484|PMID:12704363 20110429 RGD DNA:polymorphisms:cds:2104C>T,2722G>C (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:4989 pancreatitis IEP D RGD:5131438|PMID:20442679 20110427 RGD protein, mRNA:decreased expression:pancreas, blood cells 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:5295 intestinal disease ISO RGD:1314945 D RGD:5508739|PMID:20646002 20111020 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:6543 acne ISO RGD:1314945 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:1314945 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8577 ulcerative colitis ISO RGD:1314945 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1314946 D RGD:8547529|PMID:20580721 20140214 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:874 bacterial pneumonia ISO RGD:1314946 D RGD:5131449|PMID:19360122 20110427 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:11385576|PMID:11385577|PMID:11528384|PMID:17435756|PMID:17568627|PMID:18371140|PMID:18438406|PMID:19467619 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:5508719|PMID:21983784 20111020 RGD DNA:missense mutations: :multiple (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:7240710 20180523 OMIM 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease no_association ISO RGD:1314945 D RGD:5508730|PMID:21155887 20111020 RGD DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1314945 D RGD:1600778|PMID:11385576 20070327 RGD DNA:frameshift mutation, missense mutations 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9000099 Experimental Colitis IEP D RGD:13204727|PMID:22997830 20170717 RGD protein:increased expression:colonic mucosa: 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1314946 D RGD:9831197|PMID:25443778 20150303 RGD mRNA, protein:increased expression:brain 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9000156 Metaplasia ISO RGD:1314945 D RGD:5508759|PMID:20230816 20111021 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1314946 D RGD:5131444|PMID:20493961 20110427 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9002019 Granuloma ISO RGD:1314946 D RGD:5508736|PMID:20679225 20111020 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1314946 D RGD:5508728|PMID:21424514 20111020 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1314946 D RGD:8552884|PMID:20131263 20170717 RGD 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9002720 Splenomegaly susceptibility ISO RGD:1314945 D RGD:5508739|PMID:20646002 20111020 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1314945 D RGD:5131515|PMID:20223031 20110502 RGD DNA:insertion:Cds: 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5131440|PMID:20107953 20110427 RGD protein:increased expression:small intestine 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004484 Sepsis IEP D RGD:8547531|PMID:24059417 20140214 RGD mRNA:increased expression:intestine mucosa (rat) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:1314945 D RGD:5508752|PMID:21460759 20111020 RGD DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:7240710 20210127 OMIM 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Yao syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004610 Acute Lung Injury treatment IDA D RGD:8547530|PMID:22575870 20140214 RGD associated with Sepsis 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9004945 Ocular Toxoplasmosis susceptibility ISO RGD:1314945 D RGD:8547527|PMID:23100559 20140213 RGD DNA:snp:3' utr:g.*397A>C (rs3135499)(human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9005036 Bacteremia severity ISO RGD:1314945 D RGD:13204726|PMID:24086711 20170717 RGD associated with Staphylococcal Infections; 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9007906 PFAPA Syndrome ISO RGD:1314945 D RGD:13204855|PMID:21914217 20170724 RGD DNA:mutations:cds 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1314945 D RGD:5131477|PMID:16008671 20110429 RGD DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314945 D RGD:5508746|PMID:21886831 20111020 RGD protein:increased expression:monocyte 1306368 Nod2 nucleotide-binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1314945 D RGD:13204710|PMID:16642031 20170714 RGD DNA:mutation:cds:p.G908R (rs2066845)(human) 1306371 Uvssa UV-stimulated scaffold protein A gene DOID:0060240 UV-sensitive syndrome ISO RGD:1605974 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22466610|PMID:22466612 1306371 Uvssa UV-stimulated scaffold protein A gene DOID:1856 cherubism ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1306371 Uvssa UV-stimulated scaffold protein A gene DOID:630 genetic disease ISO RGD:1605974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306371 Uvssa UV-stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:7240710 20140903 OMIM 1306371 Uvssa UV-stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 3 PMID:10771487|PMID:19329487|PMID:22466610|PMID:22466612|PMID:25741868|PMID:3774595|PMID:3974603|PMID:7513056 1306372 Supt4h1 SPT4 homolog, DSIF elongation factor subunit gene DOID:0050777 Joubert syndrome ISO RGD:1314951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306372 Supt4h1 SPT4 homolog, DSIF elongation factor subunit gene DOID:1059 intellectual disability ISO RGD:1314951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306372 Supt4h1 SPT4 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1314951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306373 Mgst3 microsomal glutathione S-transferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314953 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306373 Mgst3 microsomal glutathione S-transferase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 1306373 Mgst3 microsomal glutathione S-transferase 3 gene DOID:630 genetic disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306373 Mgst3 microsomal glutathione S-transferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314953 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306374 Eml1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:7240710 20190315 OMIM 1306374 Eml1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Band heterotopia of brain PMID:24859200|PMID:25741868|PMID:28492532|PMID:28556411 1306374 Eml1 EMAP like 1 gene DOID:2490 congenital nervous system abnormality ISS RGD:1314955 D RGD:13592920 20180518 MouseDO 1306374 Eml1 EMAP like 1 gene DOID:630 genetic disease ISO RGD:1343308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314956 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:28492532 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1314956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:25741868|PMID:28492532 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314956 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:630 genetic disease ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306375 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1314956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2747 glycogen storage disease ISO RGD:1314958 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17994282|PMID:20071996|PMID:20490926|PMID:23430490|PMID:24033266|PMID:25602008|PMID:25741868|PMID:26984562|PMID:28492532|PMID:29374762|PMID:31980526|PMID:8990006|PMID:9412782 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8755644|PMID:8990006|PMID:24700805 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:1331525|PMID:15118671 19990101 GAD 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:7240710 20130221 OMIM 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10472540|PMID:10571954|PMID:10655153|PMID:10801050|PMID:10925384|PMID:10982190|PMID:11378828|PMID:11757581|PMID:11924557|PMID:11949933|PMID:11977176|PMID:12442284|PMID:12955720|PMID:15542399|PMID:15833157|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17576681|PMID:17895567|PMID:17908927|PMID:17915576|PMID:17994282|PMID:18617770|PMID:18785866|PMID:18924225|PMID:19299494|PMID:19754354|PMID:19763152|PMID:19834502|PMID:19951465|PMID:19951495|PMID:20071996|PMID:20158661|PMID:20307669|PMID:20490926|PMID:20526204|PMID:20648714|PMID:21228398|PMID:21321962|PMID:21691223|PMID:22089644|PMID:22406018|PMID:22899091|PMID:22995991|PMID:23062577|PMID:23207808|PMID:23430490|PMID:23430832|PMID:23430941|PMID:23649758|PMID:24033266|PMID:24257475|PMID:24495762|PMID:24824133|PMID:25388549|PMID:25431232|PMID:25451272|PMID:25451950|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26885414|PMID:26913919|PMID:26984562|PMID:27088557|PMID:27106217|PMID:27460348|PMID:27604308|PMID:28039895|PMID:28074886|PMID:28492532|PMID:28720891|PMID:28888851|PMID:29374762|PMID:29614965|PMID:29794575|PMID:30916492|PMID:31028654|PMID:31319225|PMID:31508908|PMID:31661040|PMID:31980526|PMID:32222031|PMID:32374048|PMID:32528171|PMID:32772503|PMID:33344388|PMID:34019008|PMID:34134972|PMID:34298581|PMID:34649782|PMID:34820282|PMID:8702417|PMID:8755644|PMID:87556440|PMID:8990006|PMID:9332391|PMID:9412782|PMID:9490286|PMID:9536098|PMID:9584265 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III susceptibility ISO RGD:1314958 D RGD:1601129|PMID:16705713 20070406 RGD DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:4676 uremia IDA D RGD:1598784|PMID:807434 20061219 RGD 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:630 genetic disease ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10472540|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20648714|PMID:23062577|PMID:23430490|PMID:25741868|PMID:28492532|PMID:31028654|PMID:34649782|PMID:34820282|PMID:8990006|PMID:9536098 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9000150 Glycogen Storage Disease IIIA ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:10571954|PMID:10655153|PMID:10801050|PMID:10982190|PMID:11378828|PMID:11924557|PMID:12442284|PMID:15542399|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17576681|PMID:17908927|PMID:18924225|PMID:19299494|PMID:19834502|PMID:19951465|PMID:20071996|PMID:20490926|PMID:20648714|PMID:21691223|PMID:22089644|PMID:22899091|PMID:23062577|PMID:23207808|PMID:23430490|PMID:25388549|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26913919|PMID:26984562|PMID:27460348|PMID:28492532|PMID:29614965|PMID:31319225|PMID:32772503|PMID:8702417|PMID:8990006|PMID:9412782|PMID:9490286|PMID:9536098 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9002814 Glycogen Storage Disease IIIC ISO RGD:1314958 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIc PMID:19299494|PMID:19834502 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9004482 Glycogen Storage Disease IIIB ISO RGD:1314958 D RGD:1566516|PMID:8755644 19990101 RGD DNA:mutations:exon: 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9004482 Glycogen Storage Disease IIIB ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIb PMID:10655153|PMID:10801050|PMID:10925384|PMID:11924557|PMID:17196294|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:22089644|PMID:23430490|PMID:25741868|PMID:25827695|PMID:26984562|PMID:28492532|PMID:32222031|PMID:8755644|PMID:9490286|PMID:9536098 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:1598779|PMID:9281456 20061219 RGD 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:24031089|PMID:28328131|PMID:28492532 1306376 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9269 maple syrup urine disease ISO RGD:1314958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1306377 Alkbh2 alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1605008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306378 Kdm4a lysine demethylase 4A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314960 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306378 Kdm4a lysine demethylase 4A gene DOID:10283 prostate cancer ISO RGD:1314960 D RGD:9586733|PMID:22120715 20141003 RGD mRNA:increased expression:prostate (human) 1306378 Kdm4a lysine demethylase 4A gene DOID:11054 urinary bladder cancer ISO RGD:1314960 D RGD:9587435|PMID:23603248 20141014 RGD mRNA:increased expression:urinary bladder (human) 1306378 Kdm4a lysine demethylase 4A gene DOID:1324 lung cancer ISO RGD:1314960 D RGD:9587434|PMID:23168260 20141014 RGD protein:increased expression:lung (human) 1306378 Kdm4a lysine demethylase 4A gene DOID:1612 breast cancer severity ISO RGD:1314960 D RGD:9586031|PMID:22199269 20141003 RGD mRNA:altered expression:breast (human) 1306378 Kdm4a lysine demethylase 4A gene DOID:1909 melanoma ISO RGD:1314960 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1306378 Kdm4a lysine demethylase 4A gene DOID:5517 stomach carcinoma severity ISO RGD:1314960 D RGD:9587437|PMID:24802408 20141014 RGD mRNA, protein:increased expression:gastric mucosa (human) 1306378 Kdm4a lysine demethylase 4A gene DOID:630 genetic disease ISO RGD:1314960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306378 Kdm4a lysine demethylase 4A gene DOID:9003936 Cardiomegaly ISO RGD:1314961 D RGD:9587422|PMID:21555854 20141008 RGD 1306378 Kdm4a lysine demethylase 4A gene DOID:986 alopecia areata ISO RGD:1314960 D RGD:9587460|PMID:21936853 20141015 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) 1306379 Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314962 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1306379 Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:1909 melanoma ISO RGD:1314962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1306379 Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:630 genetic disease ISO RGD:1314962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306380 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:50 thyroid gland disease ISO RGD:1314963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 1306380 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:630 genetic disease ISO RGD:1314963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306380 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306380 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314963 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:7240710 20210616 OMIM 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 12 PMID:25741868|PMID:25741870|PMID:28492532|PMID:33232675 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:1059 intellectual disability ISO RGD:1314970 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:33232675 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1314970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314970 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33232675 1306385 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:9008582 Developmental Disease ISO RGD:1314970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0050563 nonsyndromic deafness ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25589040|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30514912|PMID:33111345 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISS RGD:1621965 D RGD:13592920 20180518 MouseDO OMIM:600652 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:7240710 20140911 OMIM 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4b PMID:21368133|PMID:24033266|PMID:25589040|PMID:25741868|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841|PMID:7655461 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:7240710 20190515 OMIM 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 113 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30311386|PMID:33111345 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:630 genetic disease ISO RGD:1603834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 1306386 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:9004538 Hearing Loss ISO RGD:1603834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 1306387 Mrpl18 mitochondrial ribosomal protein L18 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1314973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1306387 Mrpl18 mitochondrial ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:1314973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306388 Klhl2 kelch-like family member 2 gene DOID:630 genetic disease ISO RGD:1314975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306389 Foxn4 forkhead box N4 gene DOID:630 genetic disease ISO RGD:1314977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306390 Cab39 calcium binding protein 39 gene DOID:0060476 Perlman syndrome ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1306390 Cab39 calcium binding protein 39 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1306390 Cab39 calcium binding protein 39 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1314979 D RGD:14398834|PMID:28197410 20190503 RGD 1306390 Cab39 calcium binding protein 39 gene DOID:224 transient cerebral ischemia IEP D RGD:14398833|PMID:27798271 20190503 RGD protein:increased expression:brain 1306390 Cab39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1314979 D RGD:14398832|PMID:28605041 20190503 RGD 1306390 Cab39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314979 D RGD:14398832|PMID:28605041 20190503 RGD 1306390 Cab39 calcium binding protein 39 gene DOID:7998 hyperthyroidism IEP D RGD:10059691|PMID:18669938 20190506 RGD mRNA,protein:increased expression:muscle: 1306390 Cab39 calcium binding protein 39 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314979 D RGD:14398834|PMID:28197410 20190503 RGD associated with pancreatic cancer;RNA:increased expression:pancreas 1306390 Cab39 calcium binding protein 39 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314979 D RGD:14398832|PMID:28605041 20190503 RGD associated with hepatocellular carcinoma; 1306391 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:7240710 20140903 OMIM 1306391 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 PMID:21786366|PMID:25741868|PMID:27815843|PMID:28492532 1306391 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1314981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306391 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314981 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1306391 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:9270 alkaptonuria ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1306391 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:936 brain disease ISO RGD:1314981 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1306392 Il17rc interleukin 17 receptor C gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1306392 Il17rc interleukin 17 receptor C gene DOID:2843 long QT syndrome ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1306392 Il17rc interleukin 17 receptor C gene DOID:630 genetic disease ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306392 Il17rc interleukin 17 receptor C gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 1306392 Il17rc interleukin 17 receptor C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603628 1306392 Il17rc interleukin 17 receptor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314983 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306392 Il17rc interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:7240710 20170301 OMIM 1306392 Il17rc interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25918342|PMID:28492532|PMID:9536098 1306392 Il17rc interleukin 17 receptor C gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314983 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:0050581 brachydactyly ISO RGD:1604032 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:0080006 bone development disease ISO RGD:1604032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:7240710 20190424 OMIM 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:11391654|PMID:15146185|PMID:15146186|PMID:15318302|PMID:15591270|PMID:16100726|PMID:16199547|PMID:16236812|PMID:17106445|PMID:17221863|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20301283|PMID:20358602|PMID:20583156|PMID:20824775|PMID:22581668|PMID:22857006|PMID:23254390|PMID:23304577|PMID:23313159|PMID:23505322|PMID:24038889|PMID:24145515|PMID:24218399|PMID:24635725|PMID:24689074|PMID:24759409|PMID:24874887|PMID:24918291|PMID:25125236|PMID:25447906|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25991456|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26725122|PMID:26925417|PMID:26938784|PMID:28425213|PMID:28492532|PMID:28588001|PMID:29159939|PMID:29620724|PMID:29764576|PMID:29995837|PMID:30057591|PMID:30158690|PMID:30606125|PMID:31019026|PMID:31157197|PMID:31337854|PMID:32005694|PMID:34008892|PMID:35769956|PMID:9536098 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:25741868 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:1059 intellectual disability ISO RGD:1604032 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:11383 cryptorchidism ISO RGD:1604032 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1550472 D RGD:155630598|PMID:19763162 20221024 RGD 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1604032 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:19763162|PMID:19886366|PMID:29379197 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1604032 D RGD:155630599|PMID:22353942 20221024 RGD DNA:mutations:cds: 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1604032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis PMID:15318302|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome severity ISO RGD:1604032 D RGD:155630600|PMID:27125329 20221024 RGD DNA:mutations:cds: 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:12712 nephronophthisis ISO RGD:1604032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:1682 congenital heart disease ISO RGD:1604032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:630 genetic disease ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15318302|PMID:16199547|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20358602|PMID:22857006|PMID:23254390|PMID:23505322|PMID:24038889|PMID:24918291|PMID:25125236|PMID:25574841|PMID:25741868|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26925417|PMID:28492532|PMID:28518168|PMID:28588001|PMID:29159939|PMID:29995837|PMID:30606125|PMID:31157197|PMID:32033219|PMID:32461654|PMID:9536098 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:6419 tetralogy of Fallot ISO RGD:1604032 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:9002500 Hearing Disorders ISO RGD:1604032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:9004203 Chromosome Breakage ISO RGD:1604032 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35435490 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604032 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:9008086 Developmental Disabilities ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:30606125|PMID:31157197|PMID:9536098 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 1306393 Nipbl NIPBL, cohesin loading factor gene DOID:9009021 Plagiocephaly ISO RGD:1604032 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:30311386 1306394 Mdn1 midasin AAA ATPase 1 gene DOID:2843 long QT syndrome ISO RGD:1314985 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306394 Mdn1 midasin AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:1314985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306395 Marchf2 membrane associated ring-CH-type finger 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1351107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1306395 Marchf2 membrane associated ring-CH-type finger 2 gene DOID:12849 autistic disorder ISO RGD:1351107 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306397 Cpsf4l cleavage and polyadenylation specific factor 4-like gene DOID:630 genetic disease ISO RGD:2290025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306398 Tram1l1 translocation associated membrane protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1314990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306398 Tram1l1 translocation associated membrane protein 1-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314990 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306399 Ccnj cyclin J gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1314992 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 1306399 Ccnj cyclin J gene DOID:630 genetic disease ISO RGD:1314992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306401 Cnot8 CCR4-NOT transcription complex, subunit 8 gene DOID:630 genetic disease ISO RGD:1314995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306402 Pus10 pseudouridine synthase 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1606697 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 1306402 Pus10 pseudouridine synthase 10 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:28492532|PMID:34055681|PMID:9536098 1306402 Pus10 pseudouridine synthase 10 gene DOID:630 genetic disease ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:1731 histoplasmosis ISO RGD:1552436 D RGD:40822806|PMID:18268348 20201130 RGD protein:increased expression:macrophage, dendritic cell 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:1552436 D RGD:41412171|PMID:19781375 20210219 RGD 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1314998 D RGD:40818418|PMID:23661793 20201120 RGD protein:increased expression:Tcell, B cell, monocyte 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:630 genetic disease ISO RGD:1314998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:40886268|PMID:29665726 20201203 RGD mRNA:increased expression:microglial cell 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1552436 D RGD:40818421|PMID:30904424 20201120 RGD 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9004484 Sepsis ISO RGD:1314998 D RGD:40818424|PMID:29661225 20201123 RGD protein:increased expression:CD27B cell 1306403 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552436 D RGD:41410801|PMID:16358363 20210215 RGD 1306404 Chpf2 chondroitin polymerizing factor 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1306404 Chpf2 chondroitin polymerizing factor 2 gene DOID:2843 long QT syndrome ISO RGD:1604004 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1306404 Chpf2 chondroitin polymerizing factor 2 gene DOID:630 genetic disease ISO RGD:1604004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306405 Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306405 Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:9000058 Keloid ISO RGD:1347516 D RGD:8554872 20180123 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28905881 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1315001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:630 genetic disease ISO RGD:1315001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:7240710 20200408 OMIM 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myopia 27 PMID:28492532|PMID:30689892 1306406 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000918 Disease Progression ISO RGD:1315001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306407 Isg20 interferon stimulated exonuclease gene 20 gene DOID:2717 Bloom syndrome ISO RGD:1315002 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306407 Isg20 interferon stimulated exonuclease gene 20 gene DOID:630 genetic disease ISO RGD:1315002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306407 Isg20 interferon stimulated exonuclease gene 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306407 Isg20 interferon stimulated exonuclease gene 20 gene DOID:9256 colorectal cancer ISO RGD:1315002 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306408 Elmod3 ELMO domain containing 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1353080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868 1306408 Elmod3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:7240710 20140911 OMIM 1306408 Elmod3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 88 PMID:24039609|PMID:25741868|PMID:28492532 1306408 Elmod3 ELMO domain containing 3 gene DOID:630 genetic disease ISO RGD:1353080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306408 Elmod3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:7240710 20210908 OMIM 1306408 Elmod3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 81 PMID:25741868|PMID:28492532|PMID:29713870 1306409 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:0080540 galactosialidosis ISO RGD:1315006 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 1306409 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:2234 focal epilepsy ISO RGD:1315006 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1306409 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1315006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306409 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1306410 Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 1306410 Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:3883 Lynch syndrome ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 1306410 Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:630 genetic disease ISO RGD:1315007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306411 Wtip WT1 interacting protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1306411 Wtip WT1 interacting protein gene DOID:630 genetic disease ISO RGD:1343375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306413 Pop7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315010 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306413 Pop7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1315010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306414 Asb2 ankyrin repeat and SOCS box-containing 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1306414 Asb2 ankyrin repeat and SOCS box-containing 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1306414 Asb2 ankyrin repeat and SOCS box-containing 2 gene DOID:630 genetic disease ISO RGD:1315012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306415 Med20 mediator complex subunit 20 gene DOID:0050444 infantile Refsum disease ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306415 Med20 mediator complex subunit 20 gene DOID:630 genetic disease ISO RGD:1606323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306415 Med20 mediator complex subunit 20 gene DOID:905 Zellweger syndrome ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306416 Epn3 epsin 3 gene DOID:630 genetic disease ISO RGD:1315016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306416 Epn3 epsin 3 gene DOID:9775 diastolic heart failure ISO RGD:1315016 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1306418 Rasef RAS and EF hand domain containing gene DOID:630 genetic disease ISO RGD:1315020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1315023 D RGD:13592920 20210909 MouseDO 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1315022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25741868 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:7240710 20190315 OMIM 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELP2-Related Disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 1306419 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21937992|PMID:25741868|PMID:25847581|PMID:33976153 1306420 Klk7 kallikrein-related peptidase 7 gene DOID:630 genetic disease ISO RGD:1315024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306421 Tmem39a transmembrane protein 39a gene DOID:630 genetic disease ISO RGD:1353039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:0050473 Alstrom syndrome ISO RGD:1315027 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1315027 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:3021 acute kidney failure ISO RGD:1315027 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:543 dystonia ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:5844 myocardial infarction ISO RGD:1315027 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:630 genetic disease ISO RGD:1315027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1306422 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:9000918 Disease Progression ISO RGD:1315027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306423 Dtwd2 DTW domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306423 Dtwd2 DTW domain containing 2 gene DOID:630 genetic disease ISO RGD:1604482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306423 Dtwd2 DTW domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604482 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306423 Dtwd2 DTW domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306424 Snx17 sorting nexin 17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1315030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1306424 Snx17 sorting nexin 17 gene DOID:10584 retinitis pigmentosa ISO RGD:1315030 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 1306424 Snx17 sorting nexin 17 gene DOID:630 genetic disease ISO RGD:1315030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315032 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1315032 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315032 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:630 genetic disease ISO RGD:1315032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306425 Dusp8 dual specificity phosphatase 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1315032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1315034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 1306426 Car9 carbonic anhydrase 9 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:0080365 endometrial hyperplasia ISO RGD:1315034 D RGD:2298945|PMID:17452774 20080804 RGD protein:altered localization:membrane, endometrium 1306426 Car9 carbonic anhydrase 9 gene DOID:0080942 anauxetic dysplasia ISO RGD:1315034 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315034 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1315034 D RGD:2293197|PMID:14520462 20080521 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:2043 hepatitis B disease_progression ISO RGD:1315034 D RGD:40903057|PMID:32297155 20210107 RGD DNA:SNP::rs2071676(human) 1306426 Car9 carbonic anhydrase 9 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1315034 D RGD:2298947|PMID:15069539 20080804 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1315034 D RGD:2293195|PMID:17245699 20080521 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:3883 Lynch syndrome ISO RGD:1315034 D RGD:155226867|PMID:17855694 20220916 RGD protein:increased expression:colorectum 1306426 Car9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315034 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 1306426 Car9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315034 D RGD:155226863|PMID:23910904 20220916 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:2293198|PMID:12966427 20080521 RGD protein:increased expression:serum, urine 1306426 Car9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:2293199|PMID:12883698 20080521 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:2293201|PMID:11506497 20080521 RGD DNA, mRNA:hypomethylation, increased expression:promoter, kidney 1306426 Car9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1315034 D RGD:2293191|PMID:18464292 20080520 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:630 genetic disease ISO RGD:1315034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306426 Car9 carbonic anhydrase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1315034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 1306426 Car9 carbonic anhydrase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1315034 D RGD:155226869|PMID:29900055 20220916 RGD mRNA:altered expression:liver 1306426 Car9 carbonic anhydrase 9 gene DOID:8552 chronic myeloid leukemia ISO RGD:1315034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 1306426 Car9 carbonic anhydrase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315034 D RGD:2293196|PMID:17233814 20080521 RGD associated with Cervix Neoplasms 1306426 Car9 carbonic anhydrase 9 gene DOID:9000156 Metaplasia ISO RGD:1315034 D RGD:2298946|PMID:17429140 20080804 RGD protein:altered localization:membrane, endometrium 1306426 Car9 carbonic anhydrase 9 gene DOID:9000784 Fibrosis ISO RGD:1315034 D RGD:2293190|PMID:18483361 20080520 RGD associated with Breast Neoplasms;mRNA:increased expression:breast 1306426 Car9 carbonic anhydrase 9 gene DOID:9002141 Anaplasia ISO RGD:1315034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 1306426 Car9 carbonic anhydrase 9 gene DOID:9002669 Hypoxia ISO RGD:1315034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16954440 1306426 Car9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315034 D RGD:2293200|PMID:12687273 20080521 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms treatment ISO RGD:1315034 D RGD:2293193|PMID:17308115 20080521 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315034 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1315034 D RGD:2298945|PMID:17452774 20080804 RGD protein:altered localization:membrane, endometrium 1306426 Car9 carbonic anhydrase 9 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2293194|PMID:17280655 20080521 RGD 1306426 Car9 carbonic anhydrase 9 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:2293204|PMID:16714773 20080521 RGD associated with Anoxia;protein:increased expression:heart right ventricle 1306426 Car9 carbonic anhydrase 9 gene DOID:9008138 Ductal Carcinoma ISO RGD:1315034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 1306426 Car9 carbonic anhydrase 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1306426 Car9 carbonic anhydrase 9 gene DOID:9870 galactosemia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1315036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma IEP D RGD:4892278|PMID:17967935 20110216 RGD protein:increased expression:bronchus 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:1331525|PMID:15118671 19990101 GAD 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:4889866|PMID:21103062 20110216 RGD DNA:SNPs (human) 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:4892275|PMID:19672052 20110216 RGD DNA:SNP: :rs10208402 (human) 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:4892276|PMID:14566338 20110216 RGD DNA:SNP:exon (human) 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:5419 schizophrenia ISO RGD:1315036 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:630 genetic disease ISO RGD:1315036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315036 D RGD:4892274|PMID:19951440 20110216 RGD 1306427 Dpp10 dipeptidyl peptidase like 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1315036 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306428 Polr3f RNA polymerase III subunit F gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1315038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 1306428 Polr3f RNA polymerase III subunit F gene DOID:630 genetic disease ISO RGD:1315038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306428 Polr3f RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:7240710 20220629 OMIM 1306428 Polr3f RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific) 1306429 Wdr73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:7240710 20190313 OMIM 1306429 Wdr73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:11391656|PMID:12030328|PMID:16217710|PMID:20531441|PMID:25466283|PMID:25741868|PMID:25873735|PMID:26070982|PMID:26123727|PMID:27001912|PMID:28492532|PMID:29127259|PMID:30315938|PMID:31130284 1306429 Wdr73 WD repeat domain 73 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25466283 1306429 Wdr73 WD repeat domain 73 gene DOID:1184 nephrotic syndrome ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:16217710|PMID:25741868|PMID:25873735|PMID:26123727|PMID:29127259 1306429 Wdr73 WD repeat domain 73 gene DOID:1826 epilepsy ISO RGD:1602852 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 1306429 Wdr73 WD repeat domain 73 gene DOID:2717 Bloom syndrome ISO RGD:1602852 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306429 Wdr73 WD repeat domain 73 gene DOID:543 dystonia ISO RGD:1602852 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1306429 Wdr73 WD repeat domain 73 gene DOID:630 genetic disease ISO RGD:1602852 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:9536098 1306429 Wdr73 WD repeat domain 73 gene DOID:9256 colorectal cancer ISO RGD:1602852 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306430 Kctd14 potassium channel tetramerization domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1315042 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306430 Kctd14 potassium channel tetramerization domain containing 14 gene DOID:630 genetic disease ISO RGD:1315042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306433 Bcdin3d BCDIN3 domain containing RNA methyltransferase gene DOID:13501 Moebius syndrome ISO RGD:1601723 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532 1306433 Bcdin3d BCDIN3 domain containing RNA methyltransferase gene DOID:630 genetic disease ISO RGD:1601723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306434 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:7240710 20190315 OMIM 1306434 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 PMID:25741868 1306434 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1315047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306434 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315047 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 1306436 Rabl3 RAB, member of RAS oncogene family-like 3 gene DOID:1793 pancreatic cancer ISO RGD:1315050 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31406347 1306436 Rabl3 RAB, member of RAS oncogene family-like 3 gene DOID:1793 pancreatic cancer ISO RGD:1315050 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5 PMID:31406347 1306436 Rabl3 RAB, member of RAS oncogene family-like 3 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315050 D RGD:7240710 20191211 OMIM 1306436 Rabl3 RAB, member of RAS oncogene family-like 3 gene DOID:630 genetic disease ISO RGD:1315050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306436 Rabl3 RAB, member of RAS oncogene family-like 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315050 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1306436 Rabl3 RAB, member of RAS oncogene family-like 3 gene DOID:9270 alkaptonuria ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1306437 Spryd7 SPRY domain containing 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315052 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306437 Spryd7 SPRY domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1315052 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306437 Spryd7 SPRY domain containing 7 gene DOID:630 genetic disease ISO RGD:1315052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306438 Tent2 terminal nucleotidyltransferase 2 gene DOID:630 genetic disease ISO RGD:1315054 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306438 Tent2 terminal nucleotidyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315054 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306439 Adamtsl1 ADAMTS-like 1 gene DOID:630 genetic disease ISO RGD:1315056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306440 Sh3yl1 SH3 and SYLF domain containing 1 gene DOID:630 genetic disease ISO RGD:1315058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050459 hyperphosphatemia ISO RGD:1315063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1315063 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1315063 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:12712 nephronophthisis ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:182 calcinosis ISO RGD:1315063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:1826 epilepsy ISO RGD:1315063 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1315063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315063 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34520102 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:7240710 20190508 OMIM 1306443 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:13774168|PMID:15133511|PMID:15599692|PMID:15687324|PMID:16528452|PMID:16940445|PMID:17311862|PMID:17351710|PMID:17576681|PMID:18322299|PMID:18618993|PMID:18982401|PMID:20358599|PMID:21347749|PMID:24668887|PMID:25326635|PMID:25351881|PMID:25741868|PMID:26337219|PMID:27164190|PMID:27867679|PMID:28492532|PMID:3839626|PMID:3998061|PMID:8338191|PMID:9536098 1306444 Fbxl15 F-box and leucine-rich repeat protein 15 gene DOID:630 genetic disease ISO RGD:1315065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306445 Hist2h3c2 histone cluster 2 H3 family member C2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349967 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306445 Hist2h3c2 histone cluster 2 H3 family member C2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349967 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306447 Samd8 sterile alpha motif domain containing 8 gene DOID:630 genetic disease ISO RGD:1315069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306447 Samd8 sterile alpha motif domain containing 8 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 1306450 Psmd11 proteasome 26S subunit, non-ATPase 11 gene DOID:630 genetic disease ISO RGD:1315074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306450 Psmd11 proteasome 26S subunit, non-ATPase 11 gene DOID:9004590 Acute Liver Failure ISO RGD:1315074 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 1306451 Mettl4 methyltransferase 4, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1346719 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306451 Mettl4 methyltransferase 4, N6-adenosine gene DOID:630 genetic disease ISO RGD:1346719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306452 Arap2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1315077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306453 Trim54 tripartite motif-containing 54 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1306453 Trim54 tripartite motif-containing 54 gene DOID:630 genetic disease ISO RGD:1354245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306454 Spo11 SPO11, initiator of meiotic double stranded breaks gene DOID:0070168 spermatogenic failure 3 ISO RGD:1315081 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1306454 Spo11 SPO11, initiator of meiotic double stranded breaks gene DOID:630 genetic disease ISO RGD:1315081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306455 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:7240710 20140911 OMIM 1306455 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type PMID:21549340|PMID:21834032|PMID:22887726|PMID:25741868|PMID:28492532|PMID:31130284 1306455 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1603038 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 1306455 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:630 genetic disease ISO RGD:1603038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306456 Art4 ADP-ribosyltransferase 4 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1306456 Art4 ADP-ribosyltransferase 4 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1315084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1306456 Art4 ADP-ribosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1315084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306458 Clstn1 calsyntenin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1306458 Clstn1 calsyntenin 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315087 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1306458 Clstn1 calsyntenin 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1315087 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1306458 Clstn1 calsyntenin 1 gene DOID:630 genetic disease ISO RGD:1315087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306459 Cntnap4 contactin associated protein family member 4 gene DOID:630 genetic disease ISO RGD:1315089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306459 Cntnap4 contactin associated protein family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1315089 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306460 Gpr63 G protein-coupled receptor 63 gene DOID:630 genetic disease ISO RGD:1315091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306461 Usp1 ubiquitin specific peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1315093 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1306461 Usp1 ubiquitin specific peptidase 1 gene DOID:13636 Fanconi anemia ISS RGD:1315094 D RGD:13592920 20180518 MouseDO 1306461 Usp1 ubiquitin specific peptidase 1 gene DOID:630 genetic disease ISO RGD:1315093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306462 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0060041 autism spectrum disorder ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1306462 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2290198 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1306462 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2290198 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306462 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2290198 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1306462 Ttll8 tubulin tyrosine ligase like 8 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2290198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1306462 Ttll8 tubulin tyrosine ligase like 8 gene DOID:1059 intellectual disability ISO RGD:2290198 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306463 Hirip3 HIRA interacting protein 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1306463 Hirip3 HIRA interacting protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315096 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1306463 Hirip3 HIRA interacting protein 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1315096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1306463 Hirip3 HIRA interacting protein 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315096 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1306463 Hirip3 HIRA interacting protein 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1306463 Hirip3 HIRA interacting protein 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315096 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1306463 Hirip3 HIRA interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1315096 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306463 Hirip3 HIRA interacting protein 3 gene DOID:1882 atrial heart septal defect ISO RGD:1315096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1306463 Hirip3 HIRA interacting protein 3 gene DOID:5419 schizophrenia ISO RGD:1315096 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306463 Hirip3 HIRA interacting protein 3 gene DOID:630 genetic disease ISO RGD:1315096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306463 Hirip3 HIRA interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315096 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306463 Hirip3 HIRA interacting protein 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1306463 Hirip3 HIRA interacting protein 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1315096 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:3347 osteosarcoma ISO RGD:1315099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:630 genetic disease ISO RGD:1315099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1315099 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22575169 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma ISO RGD:1315099 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 PMID:25741868|PMID:26951679|PMID:28492532 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1315099 D RGD:7240710 20201104 OMIM 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:9538 multiple myeloma ISO RGD:1315099 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1306465 Mst1r macrophage stimulating 1 receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1315104 D RGD:38599154|PMID:17322108 20200911 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0050211 swine influenza ISO RGD:1315104 D RGD:38599196|PMID:27468760 20200914 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315103 D RGD:38599181|PMID:29867955 20200912 RGD DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human) 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315104 D RGD:38599181|PMID:29867955 20200911 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0050902 medulloblastoma ISO RGD:1315103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0060180 colitis ISO RGD:1315104 D RGD:6482682|PMID:21244371 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:0081267 graft-versus-host disease ISO RGD:1315104 D RGD:6482681|PMID:21402770 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1315103 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:10283 prostate cancer ISO RGD:1315103 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:10652 Alzheimer's disease ISO RGD:1315104 D RGD:6482689|PMID:20025958 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:6482702|PMID:14627686 20120426 RGD DNA:SNP:exon:rs1129293 (human) 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:1324 lung cancer ISO RGD:1315103 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:13622 campylobacteriosis treatment ISO RGD:1315104 D RGD:38599193|PMID:23180818 20200914 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:14069 cerebral malaria ISO RGD:1315104 D RGD:38599200|PMID:25775137 20200914 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:1315103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:1936 atherosclerosis severity ISO RGD:1315104 D RGD:1642394|PMID:17483449 20070914 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:2841 asthma ISO RGD:1315104 D RGD:6482695|PMID:18754810 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:2843 long QT syndrome ISO RGD:1315103 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1315103 D RGD:14390130|PMID:20876794 20190220 RGD mRNA, protein:increased expression:pancreas (human) 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:399 tuberculosis ISO RGD:1315104 D RGD:38599199|PMID:30514491 20200914 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315103 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:5082 liver cirrhosis treatment IMP D RGD:38599216|PMID:29323718 20200915 RGD associated with Schistosomiasis Japonica 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:5844 myocardial infarction ISO RGD:1315104 D RGD:6482688|PMID:20056919 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315104 D RGD:6482699|PMID:15936620 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1315103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:820 myocarditis ISO RGD:1315104 D RGD:38599186|PMID:20028656 20200914 RGD associated with endotoxemia 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:8632 Kaposi's sarcoma treatment ISO RGD:1315104 D RGD:38599159|PMID:21665152 20200913 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:8947 diabetic retinopathy IEP D RGD:41410819|PMID:31759996 20210216 RGD mRNA, protein:increased expression:retina 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:1315104 D RGD:38599183|PMID:20347874 20200912 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9000784 Fibrosis IMP D RGD:6482708|PMID:21866628 20120426 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1315103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1315104 D RGD:6482697|PMID:16374167 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9002457 Experimental Arthritis ISO RGD:1315104 D RGD:6482684|PMID:20374644 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9002457 Experimental Arthritis ISO RGD:1315104 D RGD:6482696|PMID:18412166 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1315104 D RGD:6482686|PMID:20303183 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9003936 Cardiomegaly ISO RGD:1315103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:7240710 20220413 OMIM 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation PMID:31554793|PMID:33054089 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1315104 D RGD:38599151|PMID:29666415 20200911 RGD mRNA:increased expression:heart (mouse) 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315103 D RGD:38599151|PMID:29666415 20200911 RGD mRNA:increased expression:heart (human) 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315104 D RGD:38599151|PMID:29666415 20200911 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004484 Sepsis ISO RGD:1315104 D RGD:6482683|PMID:20508212 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:38599213|PMID:11714830 20200915 RGD associated with endotoxemia 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:6482677|PMID:22198681 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9005372 Inflammation IMP D RGD:1642429|PMID:17526805 20070917 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9007096 Stroke ISO RGD:1315104 D RGD:6482678|PMID:21546487 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315104 D RGD:6482687|PMID:20179753 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9008104 Cancer Pain IEP D RGD:152025537|PMID:25919859 20220504 RGD mRNA, protein:increased expression:spinal cord (rat) 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315104 D RGD:6482694|PMID:20004201 20120425 RGD associated with Colitis 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:1315104 D RGD:6482698|PMID:16365454 20120425 RGD 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315103 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 1306468 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma gene DOID:9970 obesity ISO RGD:1315104 D RGD:6482700|PMID:21949398 20120425 RGD 1306470 Slc22a14 solute carrier family 22, member 14 gene DOID:0050451 Brugada syndrome ISO RGD:1315106 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1306470 Slc22a14 solute carrier family 22, member 14 gene DOID:630 genetic disease ISO RGD:1315106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306470 Slc22a14 solute carrier family 22, member 14 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 1306470 Slc22a14 solute carrier family 22, member 14 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315106 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1306472 Rtl6 retrotransposon Gag like 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345067 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306472 Rtl6 retrotransposon Gag like 6 gene DOID:1059 intellectual disability ISO RGD:1345067 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306472 Rtl6 retrotransposon Gag like 6 gene DOID:303 substance-related disorder ISO RGD:1345067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1306472 Rtl6 retrotransposon Gag like 6 gene DOID:630 genetic disease ISO RGD:1345067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306473 Mtx2 metaxin 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1306473 Mtx2 metaxin 2 gene DOID:11372 megacolon ISO RGD:1315110 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306473 Mtx2 metaxin 2 gene DOID:630 genetic disease ISO RGD:1315110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306473 Mtx2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:7240710 20201223 OMIM 1306473 Mtx2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia PMID:32917887 1306477 Rhbdd1 rhomboid domain containing 1 gene DOID:1793 pancreatic cancer ISO RGD:1601951 D RGD:11554173 20230308 CTD CTD Direct Evidence: therapeutic PMID:35442567 1306477 Rhbdd1 rhomboid domain containing 1 gene DOID:630 genetic disease ISO RGD:1601951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306479 Eif4b eukaryotic translation initiation factor 4B gene DOID:0060041 autism spectrum disorder ISO RGD:1315118 D RGD:11049140|PMID:25627160 20160404 RGD protein:decreased expression:fusiform gyrus 1306479 Eif4b eukaryotic translation initiation factor 4B gene DOID:1470 major depressive disorder ISO RGD:1315118 D RGD:11049139|PMID:21635931 20160404 RGD protein:decreased expression:prefrontal cortex 1306479 Eif4b eukaryotic translation initiation factor 4B gene DOID:630 genetic disease ISO RGD:1315118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306480 Apol3 apolipoprotein L3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306480 Apol3 apolipoprotein L3 gene DOID:630 genetic disease ISO RGD:1315120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306481 Txk TXK tyrosine kinase gene DOID:630 genetic disease ISO RGD:1315122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306482 Rnf146 ring finger protein 146 gene DOID:2256 osteochondrodysplasia ISS RGD:1552458 D RGD:13592920 20221020 MouseDO 1306482 Rnf146 ring finger protein 146 gene DOID:630 genetic disease ISO RGD:1315124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306482 Rnf146 ring finger protein 146 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13524865|PMID:28108258 20180501 RGD 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315126 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315126 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0080942 anauxetic dysplasia ISO RGD:1315126 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315126 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:7240710 20191106 OMIM 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: GALACTOSEMIA I PMID:10424825|PMID:11152465|PMID:11261429|PMID:11286503|PMID:11479743|PMID:19224951|PMID:19581158|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22963887|PMID:24718839|PMID:25087612|PMID:25592817|PMID:25614870|PMID:25741868|PMID:28492532|PMID:4759900|PMID:7550229|PMID:8198125|PMID:8892021|PMID:9012409|PMID:9222760|PMID:9450900 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:5426 primary ovarian insufficiency ISO RGD:1315126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:17876724|PMID:22461411|PMID:25741868|PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:630 genetic disease ISO RGD:1315126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:20547145|PMID:22461411|PMID:22944367|PMID:25124065|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30718057|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315126 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:9870 galactosemia ISO RGD:1315126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22773758 1306483 Galt galactose-1-phosphate uridylyltransferase gene DOID:9870 galactosemia ISO RGD:1315126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia PMID:10037750|PMID:10070616|PMID:10220154|PMID:10384398|PMID:10399107|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10529216|PMID:10535394|PMID:10573007|PMID:10649501|PMID:10811638|PMID:10884393|PMID:10952646|PMID:10960497|PMID:11113841|PMID:11152465|PMID:11216901|PMID:11261429|PMID:11286503|PMID:11286505|PMID:11397328|PMID:11479743|PMID:11511927|PMID:11596650|PMID:11678552|PMID:11754113|PMID:11919338|PMID:12208137|PMID:12350230|PMID:12491926|PMID:12552079|PMID:12595586|PMID:12872845|PMID:1301925|PMID:1373122|PMID:1427861|PMID:14518827|PMID:14728988|PMID:15172000|PMID:15633893|PMID:15749517|PMID:15775761|PMID:15841485|PMID:15986423|PMID:1610789|PMID:16167124|PMID:16199547|PMID:16540753|PMID:16765930|PMID:16838075|PMID:17041746|PMID:17079880|PMID:17143577|PMID:17221873|PMID:17486650|PMID:17576681|PMID:1766867|PMID:17876724|PMID:17884932|PMID:17957157|PMID:18207281|PMID:18210213|PMID:18813948|PMID:18956253|PMID:1897530|PMID:19181333|PMID:19224951|PMID:19375122|PMID:19418241|PMID:19581158|PMID:19904210|PMID:20008339|PMID:20100763|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:20348403|PMID:20351709|PMID:20547145|PMID:20663501|PMID:20863731|PMID:21150919|PMID:21188552|PMID:21228398|PMID:21501963|PMID:21779791|PMID:2233247|PMID:22461411|PMID:22693313|PMID:22729817|PMID:22743281|PMID:22870861|PMID:22944367|PMID:22963887|PMID:23022339|PMID:23151865|PMID:23319291|PMID:23418865|PMID:23430559|PMID:23583749|PMID:23690308|PMID:23749220|PMID:23924834|PMID:24033266|PMID:24045215|PMID:24718839|PMID:24973740|PMID:25052314|PMID:25087612|PMID:25124065|PMID:25268296|PMID:25525159|PMID:25592817|PMID:25614870|PMID:25622686|PMID:25681079|PMID:25741868|PMID:25814382|PMID:25936995|PMID:26565537|PMID:27005423|PMID:27176039|PMID:27308838|PMID:27363831|PMID:27415407|PMID:27603904|PMID:27629047|PMID:27878435|PMID:28065439|PMID:28173647|PMID:28391442|PMID:28492532|PMID:28644047|PMID:28649529|PMID:29252199|PMID:29261178|PMID:29653003|PMID:29892033|PMID:30172461|PMID:30231941|PMID:30275481|PMID:30718057|PMID:30808388|PMID:30987402|PMID:30994193|PMID:31029175|PMID:31042289|PMID:31194682|PMID:31194895|PMID:31267113|PMID:31358168|PMID:31395954|PMID:31450232|PMID:31804959|PMID:31954591|PMID:32903656|PMID:33101984|PMID:33335841|PMID:33636947|PMID:34030713|PMID:4759900|PMID:7550229|PMID:7573066|PMID:7671959|PMID:7887416|PMID:7887417|PMID:8040766|PMID:8051928|PMID:8198125|PMID:8499924|PMID:8522334|PMID:8551426|PMID:8598637|PMID:8692963|PMID:8741038|PMID:8869397|PMID:8892021|PMID:8943248|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9396569|PMID:9450900|PMID:9536098|PMID:9635294|PMID:9686364|PMID:9766850|PMID:9772178 1306485 Bcas2 BCAS2, pre-mRNA processing factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315129 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 1306485 Bcas2 BCAS2, pre-mRNA processing factor gene DOID:0080690 RASopathy ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1306485 Bcas2 BCAS2, pre-mRNA processing factor gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1306485 Bcas2 BCAS2, pre-mRNA processing factor gene DOID:1612 breast cancer ISO RGD:1315129 D RGD:9850147|PMID:12169396 20150331 RGD DNA:amplification:cds (human) 1306485 Bcas2 BCAS2, pre-mRNA processing factor gene DOID:630 genetic disease ISO RGD:1315129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306486 Habp4 hyaluronan binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1315131 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306486 Habp4 hyaluronan binding protein 4 gene DOID:630 genetic disease ISO RGD:1315131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604828 D RGD:11554173 20180306 CTD CTD Direct Evidence: marker/mechanism 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:35196747 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1604828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:7240710 20180228 OMIM 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 1 PMID:15216543|PMID:15696165|PMID:16199547|PMID:17351351|PMID:17576681|PMID:18286824|PMID:18414213|PMID:20512159|PMID:20584031|PMID:23176487|PMID:23420520|PMID:25326635|PMID:25741868|PMID:26138576|PMID:26421802|PMID:26467025|PMID:26852512|PMID:28454995|PMID:28492532|PMID:29300443|PMID:29878067|PMID:30202406|PMID:31319225|PMID:32740904|PMID:32870266|PMID:8249951|PMID:9536098 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:11383 cryptorchidism ISO RGD:1604828 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Cryptorchidism 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:13938 amenorrhea ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:26467025|PMID:28492532|PMID:32870266 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:1604828 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15696165|PMID:16199547|PMID:17351351|PMID:20512159|PMID:23176487|PMID:23420520|PMID:25741868|PMID:26852512|PMID:28492532|PMID:29300443|PMID:31319225|PMID:34702808 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:7240710 20210728 OMIM 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 2 PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300443|PMID:30730599 1306487 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:29300443 1306488 Appbp2 amyloid beta precursor protein binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1315134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306488 Appbp2 amyloid beta precursor protein binding protein 2 gene DOID:11372 megacolon ISO RGD:1315134 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306488 Appbp2 amyloid beta precursor protein binding protein 2 gene DOID:630 genetic disease ISO RGD:1315134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306489 Rab5b RAB5B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306489 Rab5b RAB5B, member RAS oncogene family gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1315136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder PMID:25741868|PMID:35121658 1306490 Tmem101 transmembrane protein 101 gene DOID:630 genetic disease ISO RGD:1601840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306491 Zfp710 zinc finger protein 710 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1306491 Zfp710 zinc finger protein 710 gene DOID:2717 Bloom syndrome ISO RGD:1606391 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306491 Zfp710 zinc finger protein 710 gene DOID:630 genetic disease ISO RGD:1606391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306491 Zfp710 zinc finger protein 710 gene DOID:9256 colorectal cancer ISO RGD:1606391 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306492 Nin ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:7240710 20140911 OMIM 1306492 Nin ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 7 PMID:22933543|PMID:25741868|PMID:28492532 1306492 Nin ninein gene DOID:630 genetic disease ISO RGD:1315140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605671 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532|PMID:29068549 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:7240710 20140911 OMIM 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:12849 autistic disorder ISO RGD:1605671 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:5419 schizophrenia ISO RGD:1605671 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306493 Dync2i1 dynein 2 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1605671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306494 Vopp1 VOPP1 WW domain binding protein gene DOID:12849 autistic disorder ISO RGD:1602094 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306494 Vopp1 VOPP1 WW domain binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602094 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306494 Vopp1 VOPP1 WW domain binding protein gene DOID:630 genetic disease ISO RGD:1602094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306494 Vopp1 VOPP1 WW domain binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306494 Vopp1 VOPP1 WW domain binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:1602094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 1306495 Krcc1 lysine-rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1605393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306496 Rad1 RAD1 checkpoint DNA exonuclease gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 1306496 Rad1 RAD1 checkpoint DNA exonuclease gene DOID:630 genetic disease ISO RGD:1315145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306496 Rad1 RAD1 checkpoint DNA exonuclease gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315145 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306497 Serpinb11 serpin family B member 11 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315147 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1306497 Serpinb11 serpin family B member 11 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1315147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1306497 Serpinb11 serpin family B member 11 gene DOID:630 genetic disease ISO RGD:1315147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306498 Zfp362 zinc finger protein 362 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602182 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306498 Zfp362 zinc finger protein 362 gene DOID:630 genetic disease ISO RGD:1602182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306499 Wdr20 WD repeat domain 20 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1306499 Wdr20 WD repeat domain 20 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1315150 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 1306499 Wdr20 WD repeat domain 20 gene DOID:630 genetic disease ISO RGD:1315150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306500 Bahcc1 BAH domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1606249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306501 Nbeal2 neurobeachin-like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21765411|PMID:21765412|PMID:21765413 1306501 Nbeal2 neurobeachin-like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:7240710 20141015 OMIM 1306501 Nbeal2 neurobeachin-like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome PMID:21765411|PMID:21765412|PMID:21765413|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32693407 1306501 Nbeal2 neurobeachin-like 2 gene DOID:10126 keratoconus ISO RGD:1604049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 1306501 Nbeal2 neurobeachin-like 2 gene DOID:2213 hemorrhagic disease ISO RGD:1604049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 1306501 Nbeal2 neurobeachin-like 2 gene DOID:630 genetic disease ISO RGD:1604049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306501 Nbeal2 neurobeachin-like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1306502 RGD1306502 similar to hypothetical protein FLJ11193 gene DOID:630 genetic disease ISO RGD:1605070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306502 RGD1306502 similar to hypothetical protein FLJ11193 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605070 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306503 Socs4 suppressor of cytokine signaling 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315155 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 1306503 Socs4 suppressor of cytokine signaling 4 gene DOID:630 genetic disease ISO RGD:1315155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306503 Socs4 suppressor of cytokine signaling 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:2303397|PMID:17880360 20090211 RGD mRNA:increased expression:hippocampus 1306504 Klhdc2 kelch domain containing 2 gene DOID:630 genetic disease ISO RGD:1315157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306504 Klhdc2 kelch domain containing 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306504 Klhdc2 kelch domain containing 2 gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1315157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868 1306506 Mmd2 monocyte to macrophage differentiation-associated 2 gene DOID:11372 megacolon ISO RGD:1315160 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306506 Mmd2 monocyte to macrophage differentiation-associated 2 gene DOID:630 genetic disease ISO RGD:1315160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306507 Rad54b RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:7240710 20131211 OMIM 1306507 Rad54b RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362364|PMID:28492532 1306507 Rad54b RAD54 homolog B gene DOID:1520 colon carcinoma ISO RGD:1604371 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10362364 1306507 Rad54b RAD54 homolog B gene DOID:630 genetic disease ISO RGD:1604371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306507 Rad54b RAD54 homolog B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604371 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 1306507 Rad54b RAD54 homolog B gene DOID:9256 colorectal cancer ISO RGD:1604371 D RGD:7240710 20200226 OMIM 1306508 Erlec1 endoplasmic reticulum lectin 1 gene DOID:13580 cholestasis ISO RGD:1315163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1306508 Erlec1 endoplasmic reticulum lectin 1 gene DOID:630 genetic disease ISO RGD:1315163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306508 Erlec1 endoplasmic reticulum lectin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1306508 Erlec1 endoplasmic reticulum lectin 1 gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:1315163 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hapsburg jaw 1306509 Ruvbl2 RuvB-like AAA ATPase 2 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1315165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 1306509 Ruvbl2 RuvB-like AAA ATPase 2 gene DOID:630 genetic disease ISO RGD:1315165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306510 Zfp189 zinc finger protein 189 gene DOID:1059 intellectual disability ISO RGD:1315167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306510 Zfp189 zinc finger protein 189 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 1306510 Zfp189 zinc finger protein 189 gene DOID:630 genetic disease ISO RGD:1315167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306510 Zfp189 zinc finger protein 189 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 1306511 Hoxd10 homeo box D10 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315169 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1306511 Hoxd10 homeo box D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:7240710 20130221 OMIM 1306511 Hoxd10 homeo box D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital vertical talus PMID:15146389|PMID:16450407|PMID:25741868 1306511 Hoxd10 homeo box D10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315169 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15146389 1306511 Hoxd10 homeo box D10 gene DOID:3068 glioblastoma ISO RGD:1315169 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 1306511 Hoxd10 homeo box D10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315169 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 1306511 Hoxd10 homeo box D10 gene DOID:630 genetic disease ISO RGD:1315169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306511 Hoxd10 homeo box D10 gene DOID:7148 rheumatoid arthritis ISO RGD:1315169 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1306511 Hoxd10 homeo box D10 gene DOID:9000918 Disease Progression ISO RGD:1315169 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 1306511 Hoxd10 homeo box D10 gene DOID:9004998 Kyphoscoliosis IEP D RGD:11354896|PMID:18327665 20160728 RGD mRNA:decreased expression:verterbra 1306511 Hoxd10 homeo box D10 gene DOID:9007364 Mouth Neoplasms ISO RGD:1315169 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 1306511 Hoxd10 homeo box D10 gene DOID:9007573 Flatfoot ISO RGD:1315169 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:15146389|PMID:16450407|PMID:24239177 1306511 Hoxd10 homeo box D10 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:1315169 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9409668 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:0070297 primary microcephaly ISO RGD:1606570 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:1790 malignant mesothelioma ISO RGD:1606570 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606570 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1606570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606570 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306512 Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606570 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 1306513 Acot13 acyl-CoA thioesterase 13 gene DOID:630 genetic disease ISO RGD:1315172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306514 Capn15 calpain 15 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1306514 Capn15 calpain 15 gene DOID:12270 coloboma ISO RGD:1315174 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 1306514 Capn15 calpain 15 gene DOID:1826 epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1306514 Capn15 calpain 15 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306514 Capn15 calpain 15 gene DOID:630 genetic disease ISO RGD:1315174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306514 Capn15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:7240710 20210623 OMIM 1306514 Capn15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogastrointestinal-neurodevelopmental syndrome PMID:25741868|PMID:32885237|PMID:33410501 1306515 Actr10 actin related protein 10 gene DOID:630 genetic disease ISO RGD:1315176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:30143558|PMID:34246755 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0090001 Fraser syndrome ISO RGD:1315178 D RGD:11554173 20181120 CTD CTD Direct Evidence: marker/mechanism PMID:17163535 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0090001 Fraser syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:34246755 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1315178 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:21900877|PMID:25741868|PMID:28492532 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:1598960|PMID:12766769 20070108 RGD DNA:mutations:multiple (human) 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:7240710 20130221 OMIM 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:16199547|PMID:16894541|PMID:17163535|PMID:17576681|PMID:18671281|PMID:21900877|PMID:22029163|PMID:23532946|PMID:24476948|PMID:24551978|PMID:24583203|PMID:24700879|PMID:25353622|PMID:25741868|PMID:26302956|PMID:26893459|PMID:27280866|PMID:27859469|PMID:27884173|PMID:28492532|PMID:28844315|PMID:29261186|PMID:30639323|PMID:31319225|PMID:31738409|PMID:31999076|PMID:33726816|PMID:34246755|PMID:34974531|PMID:35005812|PMID:9536098 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24700879|PMID:25353622|PMID:26893459|PMID:28492532 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1315178 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:11836 clubfoot ISS RGD:1315179 D RGD:13592920 20180518 MouseDO OMIM:119800 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:14766 renal agenesis ISO RGD:1315178 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:2661 myoepithelioma ISO RGD:1315178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315178 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:630 genetic disease ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32643034 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1306516 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:9008205 Macrostomia ISO RGD:1315178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17163535 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315180 D RGD:155791563|PMID:34742001 20221220 RGD 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1315180 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1315180 D RGD:155791566|PMID:25824905 20221220 RGD DNA:mutations:cds: 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:21820096|PMID:24033266|PMID:25558065|PMID:25824905|PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:0111254 glutaric acidemia I ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315180 D RGD:155791565|PMID:32753649 20221220 RGD 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer severity ISO RGD:1315180 D RGD:155791564|PMID:29587866 20221220 RGD 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:1059 intellectual disability ISO RGD:1315180 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:10907 microcephaly ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:10908 hydrocephalus ISO RGD:1315180 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:13810 familial hypercholesterolemia ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:14756670|PMID:17094996|PMID:19538517|PMID:20045108|PMID:22698793|PMID:25741868 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:3413 alpha-mannosidosis ISO RGD:1315180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:5408 Paget's disease of bone ISO RGD:1315180 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Bone Paget disease PMID:25741868|PMID:28492532 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:630 genetic disease ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25724810|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28160419|PMID:28492532|PMID:28884918|PMID:29961505|PMID:30111349|PMID:30293987 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:7240710 20140903 OMIM 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:16199547|PMID:17159513|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25558065|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28135719|PMID:28492532|PMID:28884918|PMID:29924900|PMID:29961505|PMID:30111349|PMID:8849019 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1315180 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:25741868|PMID:26457590|PMID:29924900 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:1315180 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 1306517 Dock6 dedicator of cytokinesis 6 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1315180 D RGD:155791564|PMID:29587866 20221220 RGD associated with stomach cancer; 1306518 Fbxw4 F-box and WD repeat domain containing 4 gene DOID:0090020 split hand-foot malformation ISO RGD:1603710 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 1306518 Fbxw4 F-box and WD repeat domain containing 4 gene DOID:0090025 split hand-foot malformation 3 ISO RGD:1603710 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:28492532 1306518 Fbxw4 F-box and WD repeat domain containing 4 gene DOID:630 genetic disease ISO RGD:1603710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306520 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1306520 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:12849 autistic disorder ISO RGD:1603986 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306520 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:630 genetic disease ISO RGD:1603986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306520 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:9005731 Facioscapulohumeral Muscular Dystrophy 3 ISO RGD:1603986 D RGD:7240710 20210825 OMIM 1306520 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:9005731 Facioscapulohumeral Muscular Dystrophy 3 ISO RGD:1603986 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic PMID:32467133 1306521 Efl1 elongation factor like GTPase 1 gene DOID:2717 Bloom syndrome ISO RGD:1352796 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306521 Efl1 elongation factor like GTPase 1 gene DOID:3070 high grade glioma ISO RGD:1352796 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25015090 1306521 Efl1 elongation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31151987 1306521 Efl1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:7240710 20190315 OMIM 1306521 Efl1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2 PMID:25741868|PMID:28331068|PMID:28492532|PMID:29970384|PMID:31151987|PMID:34115847 1306521 Efl1 elongation factor like GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1352796 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306522 Rgs18 regulator of G-protein signaling 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1315187 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306522 Rgs18 regulator of G-protein signaling 18 gene DOID:630 genetic disease ISO RGD:1315187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306522 Rgs18 regulator of G-protein signaling 18 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1315187 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 1306522 Rgs18 regulator of G-protein signaling 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315187 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306524 Etv4 ETS variant transcription factor 4 gene DOID:0080205 CAKUT ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 1306524 Etv4 ETS variant transcription factor 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315190 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 1306524 Etv4 ETS variant transcription factor 4 gene DOID:630 genetic disease ISO RGD:1315190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306524 Etv4 ETS variant transcription factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315190 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 1306524 Etv4 ETS variant transcription factor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315190 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:27783944 1306524 Etv4 ETS variant transcription factor 4 gene DOID:9008192 Neoplastic Processes ISO RGD:1315190 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 1306524 Etv4 ETS variant transcription factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1315190 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21679465 1306525 Mlana melan-A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1306525 Mlana melan-A gene DOID:1790 malignant mesothelioma ISO RGD:1315192 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 1306525 Mlana melan-A gene DOID:1909 melanoma ISO RGD:1315192 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 1306525 Mlana melan-A gene DOID:2773 contact dermatitis ISO RGD:1315192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1306525 Mlana melan-A gene DOID:630 genetic disease ISO RGD:1315192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306525 Mlana melan-A gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1315192 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 1306526 Inka2 inka box actin regulator 2 gene DOID:630 genetic disease ISO RGD:1603392 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315195 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1315195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1682 congenital heart disease ISO RGD:1315195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1826 epilepsy ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1306527 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:630 genetic disease ISO RGD:1315195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306528 Hspa4l heat shock protein family A (Hsp70) member 4 like gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1350877 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 1306528 Hspa4l heat shock protein family A (Hsp70) member 4 like gene DOID:630 genetic disease ISO RGD:1350877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:0060041 autism spectrum disorder ISO RGD:1315197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:0080600 COVID-19 ISO RGD:1315197 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:10652 Alzheimer's disease ISO RGD:1315197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042211 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:11100 Q fever ISO RGD:1315197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:3146 lipid metabolism disorder ISO RGD:1315197 D RGD:1600897|PMID:11519011 20070330 RGD desmosterolosis, OMIM:602398, Y471S, N294T, K306N 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:5419 schizophrenia ISO RGD:1315197 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16410790 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:7240710 20130221 OMIM 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desmosterolosis PMID:11519011|PMID:21559050|PMID:21671375|PMID:21902244|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 1306529 Dhcr24 24-dehydrocholesterol reductase gene DOID:9008386 Hydrops Fetalis ISO RGD:1315197 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 1306530 Krt34 keratin 34 gene DOID:630 genetic disease ISO RGD:1350893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306531 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1315201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306531 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315201 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1306532 Zbtb39 zinc finger and BTB domain containing 39 gene DOID:630 genetic disease ISO RGD:1605102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306533 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:1580872|PMID:16567567 19990101 RGD 1306533 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:1580873|PMID:15489853 19990101 RGD 1306533 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29288195|PMID:29582136|PMID:29802319|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:35535697 1306533 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26138720|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28166282|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29288195|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:33238575|PMID:34469894|PMID:35535697|PMID:35655036|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1550508 D RGD:265253172|PMID:27412010 20230418 RGD 1306533 Pkp2 plakophilin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 1306533 Pkp2 plakophilin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31539150|PMID:31568572|PMID:32906206|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33919104|PMID:34008892|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315204 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1306533 Pkp2 plakophilin 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1315204 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21636032|PMID:22214898|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MOPD 1 PMID:24033266|PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 1306533 Pkp2 plakophilin 2 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1315204 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 1306533 Pkp2 plakophilin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:24704780|PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:7240710 20130221 OMIM 1306533 Pkp2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20573160|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22085907|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:22889254|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23486541|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:24981977|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26701096|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27114410|PMID:27122407|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29343803|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:30985088|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34540771|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 1306533 Pkp2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28166811|PMID:28341588|PMID:28492532|PMID:31539150 1306533 Pkp2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 1306533 Pkp2 plakophilin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315204 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315204 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1315204 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868 1306533 Pkp2 plakophilin 2 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 1306533 Pkp2 plakophilin 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 1306533 Pkp2 plakophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16567567|PMID:17556197|PMID:19863551|PMID:19955750|PMID:20525856|PMID:20716751|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24352520|PMID:25163546|PMID:25637381|PMID:25741868|PMID:26498160|PMID:28301460|PMID:28492532|PMID:29802319|PMID:30445427 1306533 Pkp2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33919104 1306533 Pkp2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045 1306533 Pkp2 plakophilin 2 gene DOID:630 genetic disease ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15489853|PMID:16549640|PMID:16567567|PMID:17010805|PMID:19084810|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20829228|PMID:20857253|PMID:21301620|PMID:21606396|PMID:21723241|PMID:22177269|PMID:23178689|PMID:23354045|PMID:23810883|PMID:23871674|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24585727|PMID:24704780|PMID:24768880|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25971409|PMID:27532257|PMID:28097316|PMID:28341588|PMID:28492532|PMID:28588093|PMID:29221435|PMID:30562116 1306533 Pkp2 plakophilin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 1306533 Pkp2 plakophilin 2 gene DOID:9000299 cardiac amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 1306533 Pkp2 plakophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15489853|PMID:25741868|PMID:28492532|PMID:34540771 1306533 Pkp2 plakophilin 2 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 1306533 Pkp2 plakophilin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29288195 1306533 Pkp2 plakophilin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 1306533 Pkp2 plakophilin 2 gene DOID:9003163 Heart Block ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29288195 1306533 Pkp2 plakophilin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15489853|PMID:16101641|PMID:16549640|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17521752|PMID:18382419|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22781308|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:24033266|PMID:24503780|PMID:24585727|PMID:25163546|PMID:25637381|PMID:25741868|PMID:25825243|PMID:25979592|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28492532|PMID:29099038|PMID:29247119|PMID:29802319|PMID:29997227|PMID:30656044|PMID:30764827|PMID:30790397 1306533 Pkp2 plakophilin 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1315204 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:20857253|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29288195 1306533 Pkp2 plakophilin 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1315204 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:9007820 Sudden Death ISO RGD:1315204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15489853|PMID:17010805|PMID:20400443|PMID:23183494|PMID:23911551|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:34135346 1306533 Pkp2 plakophilin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444 1306533 Pkp2 plakophilin 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 1306533 Pkp2 plakophilin 2 gene DOID:9883 Becker muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 1306534 Prex1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1315206 D RGD:13592920 20190516 MouseDO 1306534 Prex1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1603014 D RGD:2314605|PMID:19305425 20091120 RGD protein:increased expression:prostate, lymph node 1306534 Prex1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 gene DOID:630 genetic disease ISO RGD:1603014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306534 Prex1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1603014 D RGD:2314605|PMID:19305425 20091120 RGD associated with Prostatic Neoplasms 1306535 Dcaf5 DDB1 and CUL4 associated factor 5 gene DOID:630 genetic disease ISO RGD:1315207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306536 Rrbp1 ribosome binding protein 1 gene DOID:630 genetic disease ISO RGD:1315209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306537 Vps28 VPS28 subunit of ESCRT-I gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306537 Vps28 VPS28 subunit of ESCRT-I gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306537 Vps28 VPS28 subunit of ESCRT-I gene DOID:4621 holoprosencephaly ISO RGD:1315210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1306537 Vps28 VPS28 subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1315210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306538 Orai3 ORAI calcium release-activated calcium modulator 3 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602192 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1306538 Orai3 ORAI calcium release-activated calcium modulator 3 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1602192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1306538 Orai3 ORAI calcium release-activated calcium modulator 3 gene DOID:630 genetic disease ISO RGD:1602192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306539 Scara5 scavenger receptor class A, member 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1306539 Scara5 scavenger receptor class A, member 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1306539 Scara5 scavenger receptor class A, member 5 gene DOID:630 genetic disease ISO RGD:1606661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657595 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:7240710 20130221 OMIM 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome PMID:10835624|PMID:11511292|PMID:11544479|PMID:11841556|PMID:12752122|PMID:12923596|PMID:15304086|PMID:15656819|PMID:16199547|PMID:16601670|PMID:16628198|PMID:17415575|PMID:17576681|PMID:18577046|PMID:19683336|PMID:20107740|PMID:21255986|PMID:21564178|PMID:22089833|PMID:22377713|PMID:23331056|PMID:24015757|PMID:24033266|PMID:25640679|PMID:25665175|PMID:25710899|PMID:25741868|PMID:25819062|PMID:26031502|PMID:26193622|PMID:26229701|PMID:26865388|PMID:27905021|PMID:27988933|PMID:28289593|PMID:28492532|PMID:28832562|PMID:28832989|PMID:28943498|PMID:29444371|PMID:29926005|PMID:30293248|PMID:30477583|PMID:31953843|PMID:32441320|PMID:32459284|PMID:32573669|PMID:32709676|PMID:33452875|PMID:34604321|PMID:36169939|PMID:9536098 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:10754 otitis media ISO RGD:1315213 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media PMID:11511292|PMID:25741868|PMID:26865388|PMID:28492532|PMID:32709676 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:630 genetic disease ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315213 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:9006215 Exfoliative Dermatitis ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythroderma PMID:15304086|PMID:19683336|PMID:21255986|PMID:22089833|PMID:22377713|PMID:25665175|PMID:25741868|PMID:26229701|PMID:28289593|PMID:28492532 1306540 Spink5 serine peptidase inhibitor, Kazal type 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:12849 autistic disorder ISO RGD:1315215 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1315215 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:630 genetic disease ISO RGD:1315215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21986133 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1306541 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315215 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306544 Tgds TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:7240710 20171011 OMIM 1306544 Tgds TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome PMID:18501694|PMID:22887726|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187|PMID:9777339 1306544 Tgds TDP-glucose 4,6-dehydratase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315219 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1306544 Tgds TDP-glucose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18501694|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187 1306544 Tgds TDP-glucose 4,6-dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315219 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1306544 Tgds TDP-glucose 4,6-dehydratase gene DOID:9006419 Congenital Microcoria ISO RGD:1315219 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 1306546 Gsg1 germ cell associated 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1306546 Gsg1 germ cell associated 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1315222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1306546 Gsg1 germ cell associated 1 gene DOID:630 genetic disease ISO RGD:1315222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306547 Myef2 myelin expression factor 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 1306547 Myef2 myelin expression factor 2 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 1306547 Myef2 myelin expression factor 2 gene DOID:14323 Marfan syndrome ISO RGD:1315223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 1306547 Myef2 myelin expression factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1315223 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306547 Myef2 myelin expression factor 2 gene DOID:630 genetic disease ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 1306547 Myef2 myelin expression factor 2 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:23010199|PMID:25741868 1306547 Myef2 myelin expression factor 2 gene DOID:9256 colorectal cancer ISO RGD:1315223 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306548 Stard10 StAR-related lipid transfer domain containing 10 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1315225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1306548 Stard10 StAR-related lipid transfer domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1315225 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306548 Stard10 StAR-related lipid transfer domain containing 10 gene DOID:630 genetic disease ISO RGD:1315225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306548 Stard10 StAR-related lipid transfer domain containing 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315229 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:7240710 20171011 OMIM 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome PMID:23543054|PMID:23946138|PMID:24033266|PMID:25363768|PMID:25741868|PMID:28407358|PMID:28492532|PMID:30311386 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:10003 sensorineural hearing loss ISS RGD:1315230 D RGD:13592920 20180518 MouseDO OMIM:304400 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1315229 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:630 genetic disease ISO RGD:1315229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:9004538 Hearing Loss ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 1306550 Slitrk6 SLIT and NTRK-like family, member 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1315229 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741897 1306551 Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 gene DOID:630 genetic disease ISO RGD:1315231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306551 Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306551 Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 gene DOID:9007194 Sciatica IMP D RGD:2302154|PMID:16176350 20081121 RGD 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:7240710 20130221 OMIM 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:12801113|PMID:14569121|PMID:16199547|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18565096|PMID:18774132|PMID:18818946|PMID:19028722|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23410549|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25373504|PMID:25741868|PMID:25907466|PMID:25944730|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:28855619|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:32368696|PMID:33144682|PMID:34668355|PMID:9536098 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1315233 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:2234 focal epilepsy ISO RGD:1315233 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:630 genetic disease ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1315233 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:28492532 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1315233 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1315233 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 1306552 Slc2a10 solute carrier family 2 member 10 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 1306553 Armc5 armadillo repeat containing 5 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1315235 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1306553 Armc5 armadillo repeat containing 5 gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1315235 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1306553 Armc5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:7240710 20170215 OMIM 1306553 Armc5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 PMID:24283224|PMID:24601692|PMID:24708098|PMID:24905064|PMID:25741868|PMID:27094308|PMID:28492532|PMID:32117062|PMID:35368666|PMID:36727580 1306553 Armc5 armadillo repeat containing 5 gene DOID:630 genetic disease ISO RGD:1315235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315237 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:182 calcinosis ISO RGD:1315237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1826 epilepsy ISO RGD:1315237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:630 genetic disease ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:679 basal ganglia disease ISO RGD:1315237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:7240710 20170301 OMIM 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25741868|PMID:25938945|PMID:28492532|PMID:31003906|PMID:886353 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315237 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1306554 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315237 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306555 Klc4 kinesin light chain 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306555 Klc4 kinesin light chain 4 gene DOID:630 genetic disease ISO RGD:1315239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306555 Klc4 kinesin light chain 4 gene DOID:905 Zellweger syndrome ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306556 RGD1306556 similar to hypothetical protein A530094D01 gene DOID:630 genetic disease ISO RGD:2311473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306557 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306557 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:630 genetic disease ISO RGD:1315242 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306557 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315242 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306557 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306558 Mrps9 mitochondrial ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:1315244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306559 Il17ra interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:7240710 20140903 OMIM 1306559 Il17ra interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 PMID:16199547|PMID:17576681|PMID:21350122|PMID:24033266|PMID:24552284|PMID:24552285|PMID:25741868|PMID:26607704|PMID:26871944|PMID:27930337|PMID:28492532|PMID:9536098 1306559 Il17ra interleukin 17 receptor A gene DOID:10533 viral pneumonia ISO RGD:1315246 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1306559 Il17ra interleukin 17 receptor A gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:1315246 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Familial Candidiasis, Recessive PMID:24033266|PMID:25741868|PMID:28492532 1306559 Il17ra interleukin 17 receptor A gene DOID:2316 brain ischemia ISO RGD:1315246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 1306559 Il17ra interleukin 17 receptor A gene DOID:630 genetic disease ISO RGD:1315246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306559 Il17ra interleukin 17 receptor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:1315247 D RGD:5144217|PMID:19414809 20110802 RGD 1306559 Il17ra interleukin 17 receptor A gene DOID:8893 psoriasis ISO RGD:1315246 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Psoriasis 1306559 Il17ra interleukin 17 receptor A gene DOID:9001488 Human Influenza ISO RGD:1315247 D RGD:4889102|PMID:19783685 20110802 RGD 1306559 Il17ra interleukin 17 receptor A gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 1306559 Il17ra interleukin 17 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315246 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306559 Il17ra interleukin 17 receptor A gene DOID:9005372 Inflammation ISO RGD:1315246 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29724254 1306559 Il17ra interleukin 17 receptor A gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306559 Il17ra interleukin 17 receptor A gene DOID:9675 pulmonary emphysema ISO RGD:1315247 D RGD:5144212|PMID:21647421 20110802 RGD 1306560 Rem1 RRAD and GEM like GTPase 1 gene DOID:2843 long QT syndrome ISO RGD:1315248 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306560 Rem1 RRAD and GEM like GTPase 1 gene DOID:630 genetic disease ISO RGD:1315248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306561 Reep4 receptor accessory protein 4 gene DOID:630 genetic disease ISO RGD:1315250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306561 Reep4 receptor accessory protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:11554173 20180807 CTD CTD Direct Evidence: marker/mechanism 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:1625067|PMID:12858176 20070518 RGD DNA:point mutation:CDS:p.R453Q (human) 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:7240710 20180802 OMIM 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 1 PMID:10522997|PMID:11150889|PMID:12858176|PMID:15827106|PMID:16091483|PMID:16356929|PMID:16817821|PMID:17062770|PMID:18628520|PMID:25741868|PMID:28492532 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:2377 multiple sclerosis ISO RGD:1315252 D RGD:6784513|PMID:19935835 20120801 RGD DNA:SNP:exon: rs17368528 (human) 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:630 genetic disease ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315252 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:6784507|PMID:20923496 20120801 RGD 1306562 H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) gene DOID:9008939 Breast Neoplasms ISO RGD:1315252 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29295867 1306563 Ftmt ferritin mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306563 Ftmt ferritin mitochondrial gene DOID:630 genetic disease ISO RGD:1348564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306563 Ftmt ferritin mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348564 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306563 Ftmt ferritin mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306564 Srl sarcalumenin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1306564 Srl sarcalumenin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315254 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1306564 Srl sarcalumenin gene DOID:1059 intellectual disability ISO RGD:1315254 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1306564 Srl sarcalumenin gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1315254 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1306564 Srl sarcalumenin gene DOID:1682 congenital heart disease ISO RGD:1315254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1306564 Srl sarcalumenin gene DOID:1826 epilepsy ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306564 Srl sarcalumenin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306564 Srl sarcalumenin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1306564 Srl sarcalumenin gene DOID:630 genetic disease ISO RGD:1315254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0050700 cardiomyopathy ISO RGD:1315043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1315043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0111955 immunodeficiency 27A ISO RGD:1315043 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:10976 membranous glomerulonephritis IEP D RGD:10412641|PMID:18178252 20151118 RGD protein:increased activity,protein:renal glomerulus: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:11832 visual epilepsy IEP D RGD:2298728|PMID:12786973 20151117 RGD protein:increased expression:CA1 field of hippocampus: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease ISO RGD:1315044 D RGD:10412311|PMID:19646509 20151116 RGD protein:increased expression:cortex,striatum,nucleus: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease onset ISO RGD:1315043 D RGD:10412314|PMID:18327563 20151116 RGD DNa:SNO:promoter:rs5880308(human) 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease treatment ISO RGD:1315044 D RGD:10412311|PMID:19646509 20151116 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1315043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21815648 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1561 cognitive disorder ISO RGD:1315044 D RGD:10412307|PMID:24371084 20151116 RGD associated with Chronic Cerebral Hypoperfusion; 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1909 melanoma ISO RGD:1315043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:224 transient cerebral ischemia IEP D RGD:10412334|PMID:23137546 20151117 RGD protein:increased nitrosylation, activity:hippocampus: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315044 D RGD:10412312|PMID:15910777 20151116 RGD protein:hyperphosphorylation:motor neuron: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:3526 cerebral infarction treatment IMP D RGD:10412642|PMID:23968852 20151118 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:5844 myocardial infarction treatment IMP D RGD:10412335|PMID:22635076 20151117 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1315044 D RGD:10412331|PMID:17562954 20151117 RGD protein:increased activity:heart: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1315043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1315043 D RGD:10412640|PMID:20716917 20151118 RGD protein:increased expression:intestine: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10412645|PMID:10331432 20151118 RGD protein:increased expression:white matter and grey matter: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:35316073|PMID:30226536 20200708 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:10412643|PMID:24126891 20151118 RGD protein:hyperphosphorylation:lung: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002056 Arterial Injury ISO RGD:1315044 D RGD:10412321|PMID:14638553 20151117 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1315043 D RGD:10412332|PMID:16331767 20151117 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002514 Neointima treatment IMP D RGD:10412321|PMID:14638553 20151117 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9587791|PMID:21843499 20141020 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1315043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:10412321|PMID:14638553 20151117 RGD protein:increased activity:carotid artery: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:10412647|PMID:23952292 20151118 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315044 D RGD:10412322|PMID:14665690 20151117 RGD protein:increased activity:heart: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18700144 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220923 RGD 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1315044 D RGD:10412307|PMID:24371084 20151116 RGD protein:hyperphosphorylation:brain: 1306565 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9351 diabetes mellitus ISO RGD:1315043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16731828 1306566 Dst dystonin gene DOID:0050548 hereditary sensory neuropathy ISS RGD:1315255 D RGD:13592920 20220811 MouseDO 1306566 Dst dystonin gene DOID:0050700 cardiomyopathy ISO RGD:1605439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 1306566 Dst dystonin gene DOID:0060041 autism spectrum disorder ISO RGD:1605439 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1306566 Dst dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:7240710 20140911 OMIM 1306566 Dst dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI PMID:16199547|PMID:17576681|PMID:20164846|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28468842|PMID:28492532|PMID:28558912|PMID:30371979|PMID:31474762|PMID:32802955|PMID:33471381|PMID:9536098 1306566 Dst dystonin gene DOID:10485 esophageal atresia ISO RGD:1605439 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1306566 Dst dystonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1605439 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 1306566 Dst dystonin gene DOID:12377 spinal muscular atrophy ISO RGD:1605439 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:25059916|PMID:28492532 1306566 Dst dystonin gene DOID:630 genetic disease ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:25790160|PMID:27698030|PMID:28492532|PMID:30371979|PMID:31474762|PMID:32802955|PMID:7670468|PMID:9536098 1306566 Dst dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:7240710 20140911 OMIM 1306566 Dst dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:28492532|PMID:30371979|PMID:31474762|PMID:33471381 1306566 Dst dystonin gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1605439 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1306567 Trmt5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:7240710 20170301 OMIM 1306567 Trmt5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY PMID:2544623|PMID:25741868|PMID:26189817|PMID:28492532|PMID:29021354|PMID:31038196|PMID:35342985 1306567 Trmt5 tRNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1315256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306567 Trmt5 tRNA methyltransferase 5 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 1306568 Cpped1 calcineurin-like phosphoesterase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602325 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306568 Cpped1 calcineurin-like phosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306569 Mtmr1 myotubularin related protein 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1315259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 1306569 Mtmr1 myotubularin related protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1306569 Mtmr1 myotubularin related protein 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1315259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 1306569 Mtmr1 myotubularin related protein 1 gene DOID:12849 autistic disorder ISO RGD:1315259 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306569 Mtmr1 myotubularin related protein 1 gene DOID:630 genetic disease ISO RGD:1315259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306570 Kpna6 karyopherin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:1315261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306571 Arsg arylsulfatase G gene DOID:0050439 Usher syndrome ISO RGD:1602225 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:29300381 1306571 Arsg arylsulfatase G gene DOID:0060041 autism spectrum disorder ISO RGD:1602225 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306571 Arsg arylsulfatase G gene DOID:0080074 neural tube defect ISO RGD:1602225 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Neural tube defect 1306571 Arsg arylsulfatase G gene DOID:12798 mucopolysaccharidosis ISS RGD:1331908 D RGD:13592920 20180518 MouseDO OMIM:252700 1306571 Arsg arylsulfatase G gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:12390961 D RGD:9068941 20210604 OMIA Lysosomal storage disease, ARSG related PMID:12951908|PMID:15058771|PMID:15365721|PMID:16916197|PMID:20429032|PMID:20679209|PMID:22689975|PMID:23338040|PMID:24069350|PMID:25135642|PMID:25452429|PMID:27778018|PMID:28860089|PMID:32219101 1306571 Arsg arylsulfatase G gene DOID:630 genetic disease ISO RGD:1602225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306571 Arsg arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:7240710 20190315 OMIM 1306571 Arsg arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:25741868|PMID:28492532|PMID:29300381|PMID:32455177|PMID:33300174|PMID:33629623|PMID:36317447 1306572 Anapc4 anaphase promoting complex subunit 4 gene DOID:630 genetic disease ISO RGD:1315264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306573 Exosc2 exosome component 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306573 Exosc2 exosome component 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306573 Exosc2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:7240710 20190315 OMIM 1306573 Exosc2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742 1306573 Exosc2 exosome component 2 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1315266 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1306573 Exosc2 exosome component 2 gene DOID:630 genetic disease ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306573 Exosc2 exosome component 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315266 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306573 Exosc2 exosome component 2 gene DOID:9273 citrullinemia ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 1306574 Rfx1 regulatory factor X1 gene DOID:630 genetic disease ISO RGD:1315268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:0090019 sitosterolemia ISO RGD:1315270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:28492532 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12529507 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:7240710 20130221 OMIM 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 PMID:12529507|PMID:15139850|PMID:16199547|PMID:17050673|PMID:17576681|PMID:18414213|PMID:20200222|PMID:21266382|PMID:21437181|PMID:22494076|PMID:24033266|PMID:25741868|PMID:26510951|PMID:26741492|PMID:27408822|PMID:27574110|PMID:28492532|PMID:29152527|PMID:31308188|PMID:32962729|PMID:33658040|PMID:34440436|PMID:9536098 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:1059 intellectual disability ISO RGD:1315270 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:1826 epilepsy ISO RGD:1315270 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:3652 Leigh disease ISO RGD:1315270 D RGD:1600674|PMID:17050673 20070322 RGD Leigh syndrome French Canadian variant 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:3652 Leigh disease ISO RGD:1315270 D RGD:1600676|PMID:12529507 20070322 RGD 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:3652 Leigh disease ISO RGD:1315270 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1315270 D RGD:1600676|PMID:12529507 20070322 RGD 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:630 genetic disease ISO RGD:1315270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34440436 1306575 Lrpprc leucine-rich pentatricopeptide repeat containing gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1315270 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315272 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0080942 anauxetic dysplasia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1315272 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:630 genetic disease ISO RGD:1315272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1315272 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1306576 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:9870 galactosemia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1306577 Faf2 Fas associated factor family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1306577 Faf2 Fas associated factor family member 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1306577 Faf2 Fas associated factor family member 2 gene DOID:630 genetic disease ISO RGD:1604379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306577 Faf2 Fas associated factor family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604379 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1306577 Faf2 Fas associated factor family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604379 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1306577 Faf2 Fas associated factor family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1306578 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:10283 prostate cancer ISO RGD:1315275 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306578 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315275 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306578 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:630 genetic disease ISO RGD:1315275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306578 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:9008086 Developmental Disabilities ISO RGD:1315275 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Global developmental delay 1306578 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315275 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306580 Clic2 chloride intracellular channel 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1306580 Clic2 chloride intracellular channel 2 gene DOID:0050476 Barth syndrome ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1306580 Clic2 chloride intracellular channel 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1306580 Clic2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:7240710 20160713 OMIM 1306580 Clic2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome PMID:21630357|PMID:22814392|PMID:25741868 1306580 Clic2 chloride intracellular channel 2 gene DOID:0111781 Waisman syndrome ISO RGD:1315278 D RGD:8554872 20160719 ClinVar ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:25434005 1306580 Clic2 chloride intracellular channel 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1315278 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1306580 Clic2 chloride intracellular channel 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1306580 Clic2 chloride intracellular channel 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1306580 Clic2 chloride intracellular channel 2 gene DOID:12849 autistic disorder ISO RGD:1315278 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306580 Clic2 chloride intracellular channel 2 gene DOID:13628 favism ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1306580 Clic2 chloride intracellular channel 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1306580 Clic2 chloride intracellular channel 2 gene DOID:607 paraplegia ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1306580 Clic2 chloride intracellular channel 2 gene DOID:630 genetic disease ISO RGD:1315278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306580 Clic2 chloride intracellular channel 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306580 Clic2 chloride intracellular channel 2 gene DOID:9002720 Splenomegaly ISO RGD:1315278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1306581 Comtd1 catechol-O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306581 Comtd1 catechol-O-methyltransferase domain containing 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 1306582 Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306582 Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306583 Trappc13 trafficking protein particle complex subunit 13 gene DOID:630 genetic disease ISO RGD:1605046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306583 Trappc13 trafficking protein particle complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605046 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306585 Lrrc8c leucine rich repeat containing 8 VRAC subunit C gene DOID:2377 multiple sclerosis ISO RGD:1604274 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1306585 Lrrc8c leucine rich repeat containing 8 VRAC subunit C gene DOID:630 genetic disease ISO RGD:1604274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306586 Tmco3 transmembrane and coiled-coil domains 3 gene DOID:2222 factor X deficiency ISO RGD:1315285 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1306586 Tmco3 transmembrane and coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1315285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306587 Pkdrej polycystin family receptor for egg jelly gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1315287 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306587 Pkdrej polycystin family receptor for egg jelly gene DOID:1059 intellectual disability ISO RGD:1315287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306587 Pkdrej polycystin family receptor for egg jelly gene DOID:630 genetic disease ISO RGD:1315287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306588 Tbc1d22a TBC1 domain family, member 22a gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602007 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306588 Tbc1d22a TBC1 domain family, member 22a gene DOID:1059 intellectual disability ISO RGD:1602007 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306588 Tbc1d22a TBC1 domain family, member 22a gene DOID:630 genetic disease ISO RGD:1602007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306589 Gca grancalcin gene DOID:12849 autistic disorder ISO RGD:1315291 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1306589 Gca grancalcin gene DOID:630 genetic disease ISO RGD:1315291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306590 Agfg2 ArfGAP with FG repeats 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315293 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306590 Agfg2 ArfGAP with FG repeats 2 gene DOID:630 genetic disease ISO RGD:1315293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306591 Tmem184b transmembrane protein 184B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306591 Tmem184b transmembrane protein 184B gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315295 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306591 Tmem184b transmembrane protein 184B gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306591 Tmem184b transmembrane protein 184B gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306591 Tmem184b transmembrane protein 184B gene DOID:630 genetic disease ISO RGD:1315295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306591 Tmem184b transmembrane protein 184B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306592 Egflam EGF-like, fibronectin type III and laminin G domains gene DOID:630 genetic disease ISO RGD:1602070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306592 Egflam EGF-like, fibronectin type III and laminin G domains gene DOID:9002189 High Myopia ISO RGD:1602070 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306592 Egflam EGF-like, fibronectin type III and laminin G domains gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602070 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306593 Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306593 Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:630 genetic disease ISO RGD:1315298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306595 Tefm transcription elongation factor, mitochondrial gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1306595 Tefm transcription elongation factor, mitochondrial gene DOID:1969 cerebral palsy ISO RGD:1605945 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1306595 Tefm transcription elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306595 Tefm transcription elongation factor, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1605945 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1306596 Oscp1 organic solute carrier partner 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606165 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306596 Oscp1 organic solute carrier partner 1 gene DOID:630 genetic disease ISO RGD:1606165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306597 Cyc1 cytochrome c-1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315303 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1306597 Cyc1 cytochrome c-1 gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:7240710 20140911 OMIM 1306597 Cyc1 cytochrome c-1 gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 6 PMID:23910460|PMID:25741868|PMID:28492532 1306597 Cyc1 cytochrome c-1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306597 Cyc1 cytochrome c-1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306597 Cyc1 cytochrome c-1 gene DOID:4621 holoprosencephaly ISO RGD:1315303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1306597 Cyc1 cytochrome c-1 gene DOID:630 genetic disease ISO RGD:1315303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306599 Urm1 ubiquitin related modifier 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1306599 Urm1 ubiquitin related modifier 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1306599 Urm1 ubiquitin related modifier 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1306599 Urm1 ubiquitin related modifier 1 gene DOID:630 genetic disease ISO RGD:1315307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306599 Urm1 ubiquitin related modifier 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306599 Urm1 ubiquitin related modifier 1 gene DOID:9000918 Disease Progression ISO RGD:1315307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306601 Duoxa1 dual oxidase maturation factor 1 gene DOID:0050712 AGAT deficiency ISO RGD:1602196 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1306601 Duoxa1 dual oxidase maturation factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1602196 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306601 Duoxa1 dual oxidase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1602196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306601 Duoxa1 dual oxidase maturation factor 1 gene DOID:9256 colorectal cancer ISO RGD:1602196 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315310 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1315310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1315310 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:630 genetic disease ISO RGD:1315310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9007188 Liver Neoplasms ISO RGD:1315310 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306602 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1306603 Cdhr4 cadherin-related family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1306603 Cdhr4 cadherin-related family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1306603 Cdhr4 cadherin-related family member 4 gene DOID:630 genetic disease ISO RGD:1605792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306603 Cdhr4 cadherin-related family member 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605792 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1306605 Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19286353 1306605 Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:1358575|PMID:12232784 19990101 RGD 1306605 Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 1306605 Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:7240710 20190315 OMIM 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clark-Baraitser syndrome PMID:25363768|PMID:25741868|PMID:27848077|PMID:28251352|PMID:28660352|PMID:31814248|PMID:3812552 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:10283 prostate cancer ISO RGD:1315318 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:1059 intellectual disability ISO RGD:1315318 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:630 genetic disease ISO RGD:1315318 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20676075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315318 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315318 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306607 Trip12 thyroid hormone receptor interactor 12 gene DOID:9008582 Developmental Disease ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306608 Mtmr7 myotubularin related protein 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1315320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1306608 Mtmr7 myotubularin related protein 7 gene DOID:630 genetic disease ISO RGD:1315320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306608 Mtmr7 myotubularin related protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306610 Otog otogelin gene DOID:0050563 nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 1306610 Otog otogelin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 1306610 Otog otogelin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1306610 Otog otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:7240710 20140911 OMIM 1306610 Otog otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18b PMID:10655058|PMID:16199547|PMID:17576681|PMID:23122587|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28050010|PMID:28492532|PMID:29196752|PMID:29907799|PMID:30139988|PMID:30311386|PMID:31152317|PMID:31645975|PMID:31827275|PMID:32048449|PMID:33223529|PMID:35802133|PMID:36633841|PMID:9536098 1306610 Otog otogelin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1315323 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1306610 Otog otogelin gene DOID:1059 intellectual disability ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 1306610 Otog otogelin gene DOID:1826 epilepsy ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 1306610 Otog otogelin gene DOID:9004538 Hearing Loss ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:28492532|PMID:30311386|PMID:32048449 1306610 Otog otogelin gene DOID:9008681 Deafness ISO RGD:1315323 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1306610 Otog otogelin gene DOID:9849 Meniere's disease ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28945198|PMID:9536098 1306612 Car12 carbonic anhydrase 12 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1315327 D RGD:155226866|PMID:10666387 20220916 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:22172588|REF_RGD_ID:153352330 1306612 Car12 carbonic anhydrase 12 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1315327 D RGD:155226860|PMID:27688658 20220916 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315327 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1306612 Car12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:7240710 20130221 OMIM 1306612 Car12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated hyperchlorhidrosis PMID:21035102|PMID:21184099|PMID:25741868|PMID:26911677|PMID:28492532 1306612 Car12 carbonic anhydrase 12 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315327 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1306612 Car12 carbonic anhydrase 12 gene DOID:1324 lung cancer ISO RGD:1315327 D RGD:155226862|PMID:22439015 20220916 RGD protein:increased expression:serum; 1306612 Car12 carbonic anhydrase 12 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1315327 D RGD:153352327|PMID:35847888 20220915 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:2717 Bloom syndrome ISO RGD:1315327 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306612 Car12 carbonic anhydrase 12 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1315327 D RGD:155226859|PMID:26316888 20220916 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:3883 Lynch syndrome ISO RGD:1315327 D RGD:155226867|PMID:17855694 20220916 RGD protein:decreased expression:colorectum 1306612 Car12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:155226863|PMID:23910904 20220916 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:5015 fibrolamellar carcinoma ISO RGD:1315327 D RGD:153352326|PMID:28304380 20220915 RGD mRNA:increased expression:liver 1306612 Car12 carbonic anhydrase 12 gene DOID:630 genetic disease ISO RGD:1315327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306612 Car12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1315327 D RGD:155226869|PMID:29900055 20220916 RGD mRNA:altered expression:liver 1306612 Car12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1315328 D RGD:153352325|PMID:35362480 20220915 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1315327 D RGD:153352325|PMID:35362480 20220915 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1315327 D RGD:153352328|PMID:31934040 20220915 RGD 1306612 Car12 carbonic anhydrase 12 gene DOID:9005172 Lung Neoplasms ISO RGD:1315327 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1306612 Car12 carbonic anhydrase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315327 D RGD:153352324|PMID:15849821 20220915 RGD protein:decreased expression:colorectal mucosa 1306612 Car12 carbonic anhydrase 12 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1315327 D RGD:155226861|PMID:29786141 20220916 RGD associated with breast cancer; 1306612 Car12 carbonic anhydrase 12 gene DOID:9256 colorectal cancer ISO RGD:1315327 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306613 Yae1 YAE1 maturation factor of ABCE1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315329 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306613 Yae1 YAE1 maturation factor of ABCE1 gene DOID:630 genetic disease ISO RGD:1315329 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306614 Ubfd1 ubiquitin family domain containing 1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 1306614 Ubfd1 ubiquitin family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306614 Ubfd1 ubiquitin family domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:1315332 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) PMID:25741868|PMID:32124521 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:13580 cholestasis ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868|PMID:32124521|PMID:34608165 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315332 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:630 genetic disease ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32124521 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:7240710 20211222 OMIM 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss PMID:25741868|PMID:28492532|PMID:30250217|PMID:32124521|PMID:33075013|PMID:34608165 1306615 Usp53 ubiquitin specific peptidase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315332 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306616 Mcm5 minichromosome maintenance complex component 5 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306616 Mcm5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:7240710 20190315 OMIM 1306616 Mcm5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 PMID:25741868|PMID:28198391|PMID:28492532 1306616 Mcm5 minichromosome maintenance complex component 5 gene DOID:1574 alcohol use disorder IEP D RGD:10045658|PMID:23095216 20150615 RGD 1306616 Mcm5 minichromosome maintenance complex component 5 gene DOID:630 genetic disease ISO RGD:1315334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306618 Prnd prion like protein doppel gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1306618 Prnd prion like protein doppel gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1306618 Prnd prion like protein doppel gene DOID:630 genetic disease ISO RGD:1315338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306619 Cbx5 chromobox 5 gene DOID:10283 prostate cancer ISO RGD:1315340 D RGD:9586744|PMID:18436254 20141006 RGD protein:increased expression:prostate: 1306619 Cbx5 chromobox 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1315340 D RGD:9586743|PMID:22900142 20141006 RGD mRNA,protein:increased expression:lung: 1306619 Cbx5 chromobox 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315340 D RGD:9586743|PMID:22900142 20141006 RGD associated with Lung Neoplasms; 1306619 Cbx5 chromobox 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315340 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306619 Cbx5 chromobox 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1315340 D RGD:9586743|PMID:22900142 20141006 RGD 1306619 Cbx5 chromobox 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315340 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:1612 breast cancer ISO RGD:1315342 D RGD:7495808|PMID:24233520 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:1612 breast cancer ISO RGD:1315342 D RGD:7495809|PMID:12618338 20131213 RGD protein:increased protein:mammary gland 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:219 colon cancer ISO RGD:1315342 D RGD:7495808|PMID:24233520 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:1315342 D RGD:1641940|PMID:17406030 20070824 RGD protein:increased expression, increased phosphorylation:brain 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:3069 malignant astrocytoma ISO RGD:1315342 D RGD:1641940|PMID:17406030 20070824 RGD protein:increased expression, increased phosphorylation:brain 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1315342 D RGD:1302548|PMID:11593045 20150113 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:4362 cervical cancer treatment ISO RGD:1315342 D RGD:7495806|PMID:20980434 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:5679 retinal disease treatment IDA D RGD:7495810|PMID:16805832 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1315342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1315342 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9002211 Hyperalgesia onset ISO RGD:1315343 D RGD:7495807|PMID:19427893 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315342 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315342 D RGD:7495808|PMID:24233520 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1315342 D RGD:7495808|PMID:24233520 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315342 D RGD:7495808|PMID:24233520 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7495813|PMID:11473637 20131213 RGD mRNA:increased expression:kidney, glomerulus 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:9007102 Myocardial Ischemia IDA D RGD:7243113|PMID:20550965 20131213 RGD 1306620 Map2k3 mitogen activated protein kinase kinase 3 gene DOID:916 liver benign neoplasm ISO RGD:1315342 D RGD:7495808|PMID:24233520 20131213 RGD 1306621 Zbtb2 zinc finger and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1315344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306622 Myrf myelin regulatory factor gene DOID:0050773 paraganglioma ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 1306622 Myrf myelin regulatory factor gene DOID:0080634 nanophthalmos ISO RGD:1315345 D RGD:197810045|PMID:31048900 20230322 RGD DNA:mutations:cds: 1306622 Myrf myelin regulatory factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1306622 Myrf myelin regulatory factor gene DOID:10283 prostate cancer ISO RGD:1315345 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306622 Myrf myelin regulatory factor gene DOID:1059 intellectual disability ISO RGD:1315345 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306622 Myrf myelin regulatory factor gene DOID:1405 primary angle-closure glaucoma ISO RGD:1315345 D RGD:199225554|PMID:36129575 20230322 RGD DNA:mutations:multiple: 1306622 Myrf myelin regulatory factor gene DOID:1682 congenital heart disease ISO RGD:1315345 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:30532227 1306622 Myrf myelin regulatory factor gene DOID:1826 epilepsy ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1306622 Myrf myelin regulatory factor gene DOID:1923 disorder of sexual development ISO RGD:1315345 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868 1306622 Myrf myelin regulatory factor gene DOID:3526 cerebral infarction ISO RGD:1315345 D RGD:213230151|PMID:36193932 20230323 RGD DNA:SNP:exon:rs174535(human) 1306622 Myrf myelin regulatory factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315345 D RGD:200226345|PMID:30532227 20230322 RGD DNA:mutations:multiple: 1306622 Myrf myelin regulatory factor gene DOID:4297 scimitar syndrome ISO RGD:1315345 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Scimitar anomaly PMID:25741868 1306622 Myrf myelin regulatory factor gene DOID:630 genetic disease ISO RGD:1315345 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306622 Myrf myelin regulatory factor gene DOID:8466 retinal degeneration ISO RGD:1615698 D RGD:197810045|PMID:31048900 20230322 RGD 1306622 Myrf myelin regulatory factor gene DOID:9000039 Spinal Cord Injuries ameliorates IDA D RGD:213230157|PMID:27370227 20230323 RGD 1306622 Myrf myelin regulatory factor gene DOID:9000486 Nanophthalmos 1 ISO RGD:1315345 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Nanophthalmos 1 1306622 Myrf myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:7240710 20190417 OMIM 1306622 Myrf myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization PMID:20042198|PMID:25741868|PMID:29265453 1306622 Myrf myelin regulatory factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315345 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306622 Myrf myelin regulatory factor gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 1306622 Myrf myelin regulatory factor gene DOID:9007553 neurotoxicity treatment IEP D RGD:213230154|PMID:33166664 20230323 RGD 1306622 Myrf myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:7240710 20190501 OMIM 1306622 Myrf myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac-urogenital syndrome PMID:25741868|PMID:29446546|PMID:30070761|PMID:30532227|PMID:30985895|PMID:31266062|PMID:31633846|PMID:34782754 1306622 Myrf myelin regulatory factor gene DOID:9008091 Optic Nerve Injuries IEP D RGD:213230153|PMID:29915135 20230323 RGD mRNA:decreased expression: oligodendrocyte 1306622 Myrf myelin regulatory factor gene DOID:9008386 Hydrops Fetalis ISO RGD:1315345 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 1306622 Myrf myelin regulatory factor gene DOID:9008582 Developmental Disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306622 Myrf myelin regulatory factor gene DOID:9565 dextrocardia ISO RGD:1315345 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:25741868|PMID:30532227 1306622 Myrf myelin regulatory factor gene DOID:9834 hyperopia ISO RGD:1315345 D RGD:199225554|PMID:36129575 20230322 RGD DNA:mutations:multiple: 1306623 Carmil1 capping protein regulator and myosin 1 linker 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1315346 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1306623 Carmil1 capping protein regulator and myosin 1 linker 1 gene DOID:630 genetic disease ISO RGD:1315346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:7240710 20171011 OMIM 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromelic frontonasal dysostosis PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:1826 epilepsy ISO RGD:1352510 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:630 genetic disease ISO RGD:1352510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:25741868|PMID:28492532 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352510 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:7240710 20190315 OMIM 1306624 Zswim6 zinc finger, SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | ClinVar Annotator: match by term: ZSWIM6 related intellectual disability PMID:25741868|PMID:28492532|PMID:29198722 1306627 Pgk2 phosphoglycerate kinase 2 gene DOID:630 genetic disease ISO RGD:1315351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:0080600 COVID-19 ISO RGD:1315352 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1315352 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:23692385 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:7240710 20141126 OMIM 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 PMID:22510444|PMID:23692385|PMID:25741868|PMID:28492532 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:11162 respiratory failure ISO RGD:1315352 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315352 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:630 genetic disease ISO RGD:1315352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:9001827 Critical Illness ISO RGD:1315352 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 1306628 Lztfl1 leucine zipper transcription factor-like 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1315352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1306629 Anapc1 anaphase promoting complex subunit 1 gene DOID:630 genetic disease ISO RGD:1353292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306629 Anapc1 anaphase promoting complex subunit 1 gene DOID:9002189 High Myopia ISO RGD:1353292 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306629 Anapc1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:7240710 20191030 OMIM 1306629 Anapc1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 PMID:25741868|PMID:28492532|PMID:31303264 1306630 Cc2d1b coiled-coil and C2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1603884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306631 Zfp324 zinc finger protein 324 gene DOID:630 genetic disease ISO RGD:1603828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306632 Deup1 deuterosome assembly protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606948 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 1306632 Deup1 deuterosome assembly protein 1 gene DOID:1059 intellectual disability ISO RGD:1606948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306632 Deup1 deuterosome assembly protein 1 gene DOID:3068 glioblastoma ISO RGD:1606948 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1306632 Deup1 deuterosome assembly protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606948 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1306632 Deup1 deuterosome assembly protein 1 gene DOID:630 genetic disease ISO RGD:1606948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306633 Zfp39 zinc finger protein 39 gene DOID:10283 prostate cancer ISO RGD:1606870 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605839 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605839 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605839 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1605839 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:1882 atrial heart septal defect ISO RGD:1605839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1605839 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605839 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1306636 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605839 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1306637 Atxn2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 ISO RGD:1347160 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 PMID:25741868 1306637 Atxn2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 susceptibility ISO RGD:1347160 D RGD:7240710 20230505 OMIM 1306637 Atxn2 ataxin 2 gene DOID:0060470 salt and pepper syndrome ISO RGD:1347160 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:25741868 1306637 Atxn2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347160 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1306637 Atxn2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:1347160 D RGD:7240710 20230505 OMIM 1306637 Atxn2 ataxin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1347160 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 1306637 Atxn2 ataxin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347160 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:27377857|PMID:28478440 1306637 Atxn2 ataxin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347160 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1306637 Atxn2 ataxin 2 gene DOID:630 genetic disease ISO RGD:1347160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306637 Atxn2 ataxin 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19224595|PMID:20065139 1306638 Sgcd sarcoglycan, delta gene DOID:0050700 cardiomyopathy ISO RGD:1315366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20675662|PMID:25281567 1306638 Sgcd sarcoglycan, delta gene DOID:0050700 cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:13605616|PMID:10481911 20180611 RGD associated with limb-girdle muscular dystrophy 1306638 Sgcd sarcoglycan, delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:13605617|PMID:23695275 20180611 RGD DNA:mutation:cds:p.Ser151Ala(mouse) 1306638 Sgcd sarcoglycan, delta gene DOID:0050700 cardiomyopathy treatment ISO RGD:1315367 D RGD:13605618|PMID:19218289 20180611 RGD associated with Sgcd knockout 1306638 Sgcd sarcoglycan, delta gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:0080600 COVID-19 ISO RGD:1315366 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306638 Sgcd sarcoglycan, delta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20675662 1306638 Sgcd sarcoglycan, delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:7240710 20130221 OMIM 1306638 Sgcd sarcoglycan, delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18414213|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26084686|PMID:26467025|PMID:26498160|PMID:26633542|PMID:26720722|PMID:26968544|PMID:27532257|PMID:28401079|PMID:28412737|PMID:28492532|PMID:28687063|PMID:28855170|PMID:31019283|PMID:31983221|PMID:32875335|PMID:8841194|PMID:9536098|PMID:9832045 1306638 Sgcd sarcoglycan, delta gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26720722|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315366 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25637381|PMID:25741868 1306638 Sgcd sarcoglycan, delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:7240710 20130425 OMIM 1306638 Sgcd sarcoglycan, delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:10735275|PMID:10838250|PMID:10974018|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:18285821|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26720722|PMID:27532257|PMID:28412737|PMID:28492532|PMID:31019283|PMID:31983221|PMID:8841194 1306638 Sgcd sarcoglycan, delta gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315366 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:10908 hydrocephalus ISO RGD:1315366 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 1306638 Sgcd sarcoglycan, delta gene DOID:11724 limb-girdle muscular dystrophy severity ISO RGD:1315367 D RGD:13605616|PMID:10481911 20180611 RGD 1306638 Sgcd sarcoglycan, delta gene DOID:12930 dilated cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:440 neuromuscular disease ISO RGD:1315366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10735275|PMID:10838250|PMID:24033266|PMID:24503780|PMID:27532257|PMID:28492532|PMID:8841194 1306638 Sgcd sarcoglycan, delta gene DOID:630 genetic disease ISO RGD:1315366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532 1306638 Sgcd sarcoglycan, delta gene DOID:9884 muscular dystrophy ISO RGD:1315366 D RGD:1599341|PMID:8841194 20070130 RGD Limb-girdle muscular dystrophies (LGMD), OMIM:601411 1306639 Gpr15 G protein-coupled receptor 15 gene DOID:630 genetic disease ISO RGD:1315368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306640 Rpl36a ribosomal protein L36A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315369 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1306640 Rpl36a ribosomal protein L36A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1315369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1306640 Rpl36a ribosomal protein L36A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1315369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1306640 Rpl36a ribosomal protein L36A gene DOID:12849 autistic disorder ISO RGD:1315369 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306640 Rpl36a ribosomal protein L36A gene DOID:14499 Fabry disease ISO RGD:1315369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 1306640 Rpl36a ribosomal protein L36A gene DOID:3910 lung adenocarcinoma ISO RGD:1315369 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1306640 Rpl36a ribosomal protein L36A gene DOID:9006205 Animal Disease Models ISO RGD:1315369 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1306640 Rpl36a ribosomal protein L36A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1315369 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1306641 Tenm3 teneurin transmembrane protein 3 gene DOID:0080820 occupational asthma ISO RGD:1315371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 1306641 Tenm3 teneurin transmembrane protein 3 gene DOID:2661 myoepithelioma ISO RGD:1315371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1306641 Tenm3 teneurin transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1315371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306641 Tenm3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:7240710 20150211 OMIM 1306641 Tenm3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:29753094|PMID:30513139|PMID:32799327|PMID:33456446 1306641 Tenm3 teneurin transmembrane protein 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1315371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1306642 Mmp27 matrix metallopeptidase 27 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1306642 Mmp27 matrix metallopeptidase 27 gene DOID:1059 intellectual disability ISO RGD:1315373 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306642 Mmp27 matrix metallopeptidase 27 gene DOID:12704 ataxia telangiectasia ISO RGD:1315373 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1306642 Mmp27 matrix metallopeptidase 27 gene DOID:630 genetic disease ISO RGD:1315373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306643 Fam120a family with sequence similarity 120A gene DOID:12642 hiatus hernia ISO RGD:1315374 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 1306643 Fam120a family with sequence similarity 120A gene DOID:630 genetic disease ISO RGD:1315374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:0110425 dilated cardiomyopathy 1A ISS RGD:1315377 D RGD:13592920 20180518 MouseDO OMIM:115200 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ISO RGD:1315376 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315376 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315376 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32814769 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315376 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315376 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:31888761 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306644 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9953 acute biphenotypic leukemia treatment ISO RGD:1315376 D RGD:9588291|PMID:23801631 20141024 RGD 1306645 Znrf2 zinc and ring finger 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1306645 Znrf2 zinc and ring finger 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352531 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306645 Znrf2 zinc and ring finger 2 gene DOID:630 genetic disease ISO RGD:1352531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306646 Klf11 KLF transcription factor 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1605424 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 1306646 Klf11 KLF transcription factor 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 1306646 Klf11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:7240710 20130221 OMIM 1306646 Klf11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7 PMID:15774581|PMID:16199547|PMID:17130512|PMID:18199129|PMID:18593768|PMID:19122346|PMID:19843526|PMID:23589285|PMID:25741868|PMID:28492532|PMID:31124255|PMID:33538814|PMID:34393998 1306646 Klf11 KLF transcription factor 11 gene DOID:630 genetic disease ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306646 Klf11 KLF transcription factor 11 gene DOID:9005369 Hepatomegaly ISO RGD:1605424 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1306646 Klf11 KLF transcription factor 11 gene DOID:9007692 Insulin Resistance ISO RGD:1605424 D RGD:2311539|PMID:18505768 20090723 RGD 1306646 Klf11 KLF transcription factor 11 gene DOID:9351 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15774581|PMID:17130512|PMID:18414213|PMID:18593768|PMID:19122346|PMID:19843526|PMID:25741868|PMID:28492532|PMID:33538814 1306646 Klf11 KLF transcription factor 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605424 D RGD:2311540|PMID:15774581 20090723 RGD DNA:polymorphisms: :p.Q62R, p.A347S, p.T220M (human) 1306646 Klf11 KLF transcription factor 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 1306647 Far1 fatty acyl CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:7240710 20200603 OMIM 1306647 Far1 fatty acyl CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder PMID:25439727|PMID:25741868|PMID:28492532 1306647 Far1 fatty acyl CoA reductase 1 gene DOID:1059 intellectual disability ISO RGD:1315381 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306647 Far1 fatty acyl CoA reductase 1 gene DOID:630 genetic disease ISO RGD:1315381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306647 Far1 fatty acyl CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:7240710 20210616 OMIM 1306647 Far1 fatty acyl CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33239752 1306648 Usp29 ubiquitin specific peptidase 29 gene DOID:630 genetic disease ISO RGD:1315382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306649 Spryd4 SPRY domain containing 4 gene DOID:630 genetic disease ISO RGD:1603522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306652 Prss16 serine protease 16 gene DOID:630 genetic disease ISO RGD:1315387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306653 Tspyl4 TSPY-like 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1315389 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1306653 Tspyl4 TSPY-like 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1315389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1306653 Tspyl4 TSPY-like 4 gene DOID:1909 melanoma ISO RGD:1315389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1306653 Tspyl4 TSPY-like 4 gene DOID:630 genetic disease ISO RGD:1315389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306654 Bub3 BUB3 mitotic checkpoint protein gene DOID:630 genetic disease ISO RGD:1315390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306654 Bub3 BUB3 mitotic checkpoint protein gene DOID:9002644 Premature Aging ISO RGD:1315391 D RGD:10059413|PMID:16476774 20150817 RGD 1306655 Arvcf ARVCF, delta catenin family member gene DOID:0060041 autism spectrum disorder ISO RGD:1315392 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1306655 Arvcf ARVCF, delta catenin family member gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1306655 Arvcf ARVCF, delta catenin family member gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1306655 Arvcf ARVCF, delta catenin family member gene DOID:0080600 COVID-19 ISO RGD:1315392 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306655 Arvcf ARVCF, delta catenin family member gene DOID:0111996 immunodeficiency 51 ISO RGD:1315392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306655 Arvcf ARVCF, delta catenin family member gene DOID:1059 intellectual disability ISO RGD:1315392 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306655 Arvcf ARVCF, delta catenin family member gene DOID:10907 microcephaly ISO RGD:1315392 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1306655 Arvcf ARVCF, delta catenin family member gene DOID:11198 DiGeorge syndrome ISO RGD:1315392 D RGD:1578806|PMID:9126485 19990101 RGD 1306655 Arvcf ARVCF, delta catenin family member gene DOID:11198 DiGeorge syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1306655 Arvcf ARVCF, delta catenin family member gene DOID:11372 megacolon ISO RGD:1315392 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306655 Arvcf ARVCF, delta catenin family member gene DOID:12583 velocardiofacial syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1306655 Arvcf ARVCF, delta catenin family member gene DOID:12849 autistic disorder ISO RGD:1315392 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306655 Arvcf ARVCF, delta catenin family member gene DOID:12930 dilated cardiomyopathy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1306655 Arvcf ARVCF, delta catenin family member gene DOID:1826 epilepsy ISO RGD:1315392 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306655 Arvcf ARVCF, delta catenin family member gene DOID:2213 hemorrhagic disease ISO RGD:1315392 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1306655 Arvcf ARVCF, delta catenin family member gene DOID:2843 long QT syndrome ISO RGD:1315392 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306655 Arvcf ARVCF, delta catenin family member gene DOID:5419 schizophrenia ISO RGD:1315392 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306655 Arvcf ARVCF, delta catenin family member gene DOID:612 primary immunodeficiency disease ISO RGD:1315392 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1306655 Arvcf ARVCF, delta catenin family member gene DOID:630 genetic disease ISO RGD:1315392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306655 Arvcf ARVCF, delta catenin family member gene DOID:9003871 Venous Thrombosis ISO RGD:1315392 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1306655 Arvcf ARVCF, delta catenin family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315392 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306655 Arvcf ARVCF, delta catenin family member gene DOID:9007661 Dwarfism ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1306655 Arvcf ARVCF, delta catenin family member gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315392 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306656 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:1604452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 1306656 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1604452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 1306656 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306657 Usp32 ubiquitin specific peptidase 32 gene DOID:0050777 Joubert syndrome ISO RGD:1315395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306657 Usp32 ubiquitin specific peptidase 32 gene DOID:11372 megacolon ISO RGD:1315395 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1306657 Usp32 ubiquitin specific peptidase 32 gene DOID:4001 ovarian carcinoma ISO RGD:1315395 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 1306657 Usp32 ubiquitin specific peptidase 32 gene DOID:630 genetic disease ISO RGD:1315395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306658 Nabp1 nucleic acid binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1603967 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1306658 Nabp1 nucleic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1603967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306658 Nabp1 nucleic acid binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603967 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306660 Use1 unconventional SNARE in the ER 1 gene DOID:630 genetic disease ISO RGD:1603634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060180 colitis treatment IEP D RGD:2298659|PMID:17543437 20131120 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:7240710 20130221 OMIM 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Cocoon syndrome PMID:20961246 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0080006 bone development disease ISO RGD:1315401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:10283 prostate cancer ISO RGD:1315401 D RGD:13504773|PMID:26435478 20180123 RGD protein:increased serine phosphorylation:prostate gland 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:12849 autistic disorder ISO RGD:1315401 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:219 colon cancer ISO RGD:1315401 D RGD:153305944|PMID:16774932 20220810 RGD protein:increased expression:colon (human) 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1315402 D RGD:13504774|PMID:26379052 20180123 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2841 asthma ISO RGD:1315402 D RGD:5133701|PMID:18643924 20110627 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:3571 liver cancer ISO RGD:1315401 D RGD:153305911|PMID:27367027 20220809 RGD human cells in mouse model 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:4159 skin cancer ISO RGD:1315402 D RGD:13504775|PMID:21755017 20180123 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:630 genetic disease ISO RGD:1315401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:674 cleft palate ISO RGD:1315401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:767 muscular atrophy treatment IMP D RGD:7495773|PMID:18827022 20131212 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:874 bacterial pneumonia ISO RGD:1315402 D RGD:5133701|PMID:18643924 20110627 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315402 D RGD:2298657|PMID:17377533 20080714 RGD associated with prostate adenocarcinoma 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001946 Skin Abnormalities ISO RGD:1315401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001984 Fetal Diseases ISO RGD:1315401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315402 D RGD:2291908|PMID:18317887 20080714 RGD protein:increased expression:prostate gland 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9005372 Inflammation ISO RGD:1315402 D RGD:5133702|PMID:20472709 20110627 RGD 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006294 Congenital Limb Deformities ISO RGD:1315401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:7240710 20210616 OMIM 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 PMID:25691407 1306661 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9007653 Multiple Abnormalities ISO RGD:1315401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961246 1306662 Plac9 placenta associated 9 gene DOID:630 genetic disease ISO RGD:1315403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306662 Plac9 placenta associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315403 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306663 Otop3 otopetrin 3 gene DOID:630 genetic disease ISO RGD:1315404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306664 Fbxo22 F-box protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1315406 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306664 Fbxo22 F-box protein 22 gene DOID:5419 schizophrenia ISO RGD:1315406 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306664 Fbxo22 F-box protein 22 gene DOID:630 genetic disease ISO RGD:1315406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306664 Fbxo22 F-box protein 22 gene DOID:9256 colorectal cancer ISO RGD:1315406 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306665 Tle2 TLE family member 2, transcriptional corepressor gene DOID:1227 neutropenia ISO RGD:1315408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1306665 Tle2 TLE family member 2, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1315408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306665 Tle2 TLE family member 2, transcriptional corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315408 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:0050444 infantile Refsum disease ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:7240710 20160420 OMIM 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome PMID:18414213|PMID:19344873|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33098144|PMID:33482199|PMID:33628804|PMID:33727758|PMID:34490615|PMID:34906502|PMID:35887114 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:1059 intellectual disability ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998|PMID:33098144|PMID:34906502 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:630 genetic disease ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33482199|PMID:33727758|PMID:34490615|PMID:35887114 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:680 tauopathy ISO RGD:1315411 D RGD:13515115|PMID:21482799 20180405 RGD 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315410 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26168268|PMID:27350047|PMID:32074998 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:9008086 Developmental Disabilities ISO RGD:1315410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:905 Zellweger syndrome ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306666 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta gene DOID:936 brain disease ISO RGD:1315410 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 1306668 Fis1 fission, mitochondrial 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1315413 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 1306668 Fis1 fission, mitochondrial 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315413 D RGD:7800727|PMID:19605646 20170131 RGD protein:increased expression:hippocampus (human) 1306668 Fis1 fission, mitochondrial 1 gene DOID:13711 dental fluorosis IEP D RGD:12437081|PMID:24958380 20170127 RGD mRNA, protein:increased expression:kidney (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:3021 acute kidney failure IEP D RGD:12910862|PMID:26480480 20170627 RGD protein:decreased expression:kidney (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:4483 rhinitis IEP D RGD:13204839|PMID:28146064 20170721 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315413 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306668 Fis1 fission, mitochondrial 1 gene DOID:5844 myocardial infarction IEP D RGD:11557988|PMID:24427319 20170127 RGD protein:increased expression:plantaris (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1315413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306668 Fis1 fission, mitochondrial 1 gene DOID:784 chronic kidney disease treatment IEP D RGD:12738369|PMID:27801955 20170201 RGD 1306668 Fis1 fission, mitochondrial 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12437066|PMID:26079325 20170126 RGD 1306668 Fis1 fission, mitochondrial 1 gene DOID:9000310 Lung Injury IEP D RGD:12437080|PMID:25560372 20170127 RGD protein:increased expression:lung (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:9001553 Spinal Cord Compression treatment IEP D RGD:12437079|PMID:25595990 20170127 RGD 1306668 Fis1 fission, mitochondrial 1 gene DOID:9005526 Pulmonary Edema of Mountaineers IEP D RGD:12738217|PMID:23517027 20170130 RGD mRNA:increased expression:lung (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315413 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 1306668 Fis1 fission, mitochondrial 1 gene DOID:9007588 Heart Injuries IEP D RGD:12437078|PMID:25677476 20170127 RGD mRNA, protein:increased expression:heart (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:9007692 Insulin Resistance IEP D RGD:12453042|PMID:24663492 20170830 RGD protein:increased expression:liver (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1315414 D RGD:329337366|PMID:30259997 20230428 RGD 1306668 Fis1 fission, mitochondrial 1 gene DOID:9008824 Sarcopenia IEP D RGD:12738219|PMID:23220115 20170130 RGD protein:increased expression:extensor digitorum longus (rat) 1306668 Fis1 fission, mitochondrial 1 gene DOID:9452 fatty liver disease IEP D RGD:12453042|PMID:24663492 20170127 RGD protein:increased expression:liver (rat) 1306669 Arhgap24 Rho GTPase activating protein 24 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1315415 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 1306669 Arhgap24 Rho GTPase activating protein 24 gene DOID:1184 nephrotic syndrome ISO RGD:1315415 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 1306669 Arhgap24 Rho GTPase activating protein 24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1315415 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1306669 Arhgap24 Rho GTPase activating protein 24 gene DOID:630 genetic disease ISO RGD:1315415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306670 Rnf139 ring finger protein 139 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1315417 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1306670 Rnf139 ring finger protein 139 gene DOID:4450 renal cell carcinoma ISO RGD:1315417 D RGD:1599629|PMID:9689122 20070209 RGD 1306670 Rnf139 ring finger protein 139 gene DOID:4450 renal cell carcinoma ISO RGD:1315417 D RGD:2289870|PMID:17539022 20080215 RGD 1306670 Rnf139 ring finger protein 139 gene DOID:4450 renal cell carcinoma ISO RGD:1315417 D RGD:7240710 20130221 OMIM 1306670 Rnf139 ring finger protein 139 gene DOID:630 genetic disease ISO RGD:1315417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306671 Med4 mediator complex subunit 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354139 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306671 Med4 mediator complex subunit 4 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1354139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 1306671 Med4 mediator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1354139 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306671 Med4 mediator complex subunit 4 gene DOID:289 endometriosis ISO RGD:1354139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1306671 Med4 mediator complex subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1354139 D RGD:12880436|PMID:19911042 20170508 RGD mRNA:decreased expression:uterine cervix (human) 1306671 Med4 mediator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1354139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306671 Med4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 1306671 Med4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 1306672 Nanos3 nanos C2HC-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306673 Klhl11 kelch-like family member 11 gene DOID:630 genetic disease ISO RGD:1315423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306674 Zfp821 zinc finger protein 821 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1306674 Zfp821 zinc finger protein 821 gene DOID:630 genetic disease ISO RGD:1604613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306675 Ddx11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:7240710 20130221 OMIM 1306675 Ddx11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warsaw breakage syndrome PMID:20137776|PMID:20696886|PMID:23033317|PMID:25741868|PMID:26089203|PMID:28492532|PMID:30216658|PMID:31169992|PMID:31287223|PMID:32855419|PMID:34906519 1306675 Ddx11 DEAD/H-box helicase 11 gene DOID:10907 microcephaly ISO RGD:1315426 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1306675 Ddx11 DEAD/H-box helicase 11 gene DOID:630 genetic disease ISO RGD:1315426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28960803 1306675 Ddx11 DEAD/H-box helicase 11 gene DOID:9004203 Chromosome Breakage ISO RGD:1315426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25561740 1306676 Rbm43 RNA binding motif protein 43 gene DOID:630 genetic disease ISO RGD:1604694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306677 Dock3 dedicator of cyto-kinesis 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1315429 D RGD:1358592|PMID:14569117 19990101 RGD 1306677 Dock3 dedicator of cyto-kinesis 3 gene DOID:630 genetic disease ISO RGD:1315429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28195318|PMID:30976111 1306677 Dock3 dedicator of cyto-kinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:7240710 20190315 OMIM 1306677 Dock3 dedicator of cyto-kinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia PMID:25741868|PMID:28195318|PMID:28492532|PMID:29130632|PMID:30976111 1306677 Dock3 dedicator of cyto-kinesis 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1315429 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976111 1306678 Brdt bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:7240710 20190315 OMIM 1306678 Brdt bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 21 PMID:28199965 1306678 Brdt bromodomain testis associated gene DOID:14227 azoospermia ISO RGD:1315431 D RGD:9586359|PMID:22035730 20140930 RGD protein:decreased expression:testis: 1306678 Brdt bromodomain testis associated gene DOID:14227 azoospermia susceptibility ISO RGD:1315431 D RGD:9586360|PMID:22016351 20140930 RGD DNA:SNP: :rs3088232(human) 1306678 Brdt bromodomain testis associated gene DOID:14228 oligospermia susceptibility ISO RGD:1315431 D RGD:9586360|PMID:22016351 20140930 RGD DNA:SNP: :rs3088232(human) 1306678 Brdt bromodomain testis associated gene DOID:5426 primary ovarian insufficiency ISO RGD:1315431 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1306678 Brdt bromodomain testis associated gene DOID:630 genetic disease ISO RGD:1315431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1315433 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:35663546 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1315433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1315433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:32581362 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32581362 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:30182498|PMID:32581362 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:11782 astigmatism ISO RGD:1315433 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Astigmatism 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1227 neutropenia ISO RGD:1315433 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neutropenia 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:11068938|PMID:21782149 20221117 RGD DNA:deletions, SNPs:CDS:multiple (human) 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:11086621|PMID:25424714 20221115 RGD DNA:mutations:CDS:multiple (human) 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:7240710 20141015 OMIM 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies PMID:15378538|PMID:15523620|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25464108|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:27900361|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28708303|PMID:28976722|PMID:29258554|PMID:29517769|PMID:29565525|PMID:30182498|PMID:30202406|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31602316|PMID:31607427|PMID:31690835|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1826 epilepsy ISO RGD:1315433 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1826 epilepsy ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1315433 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15523620|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25464108|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:28492532|PMID:28529015|PMID:29258554|PMID:29517769|PMID:30182498|PMID:30919572|PMID:31191201|PMID:32124548|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1315433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17986521 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9002914 Familial Sudden Death ISO RGD:1315433 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25413698|PMID:25741868|PMID:31191201 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1315433 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315433 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315433 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9006534 Nervous System Malformations ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:32581362 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21782149|PMID:24088041|PMID:25125236|PMID:25413698|PMID:25464108|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27605097|PMID:27667800|PMID:28492532|PMID:31607427|PMID:32124548|PMID:33955014|PMID:35330407|PMID:35682590 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9008582 Developmental Disease ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306679 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532 1306680 Smc4 structural maintenance of chromosomes 4 gene DOID:630 genetic disease ISO RGD:1315434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306681 Smoc2 SPARC related modular calcium binding 2 gene DOID:5419 schizophrenia ISO RGD:1315436 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1306681 Smoc2 SPARC related modular calcium binding 2 gene DOID:630 genetic disease ISO RGD:1315436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306681 Smoc2 SPARC related modular calcium binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306681 Smoc2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:7240710 20141112 OMIM 1306681 Smoc2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth PMID:22152679|PMID:23317772|PMID:25741868 1306682 Mien1 migration and invasion enhancer 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1306682 Mien1 migration and invasion enhancer 1 gene DOID:630 genetic disease ISO RGD:1315438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306683 Larp1 La ribonucleoprotein 1, translational regulator gene DOID:630 genetic disease ISO RGD:1603686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306684 Spaca3 sperm acrosome associated 3 gene DOID:630 genetic disease ISO RGD:1315441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:0050553 JMP syndrome ISO RGD:1315443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:22246504|PMID:24344921|PMID:26691440|PMID:26778108|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:3757302 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:7240710 20140911 OMIM 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:22246504|PMID:23352160|PMID:24033266|PMID:24344921|PMID:25741868|PMID:26424960|PMID:26691440|PMID:26778108|PMID:27884173|PMID:27884779|PMID:28369476|PMID:28403545|PMID:28492532|PMID:30409984|PMID:33727708|PMID:3757302 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:1697 ichthyosis ISO RGD:1315443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22246504 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:1697 ichthyosis ISO RGD:1315443 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:26691440|PMID:26778108 1306685 Pnpla1 patatin-like phospholipase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306686 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1315444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1306686 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0080600 COVID-19 ISO RGD:1315444 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306686 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1315444 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1306686 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0111621 Temtamy syndrome ISO RGD:1315444 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1306686 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:630 genetic disease ISO RGD:1315444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306686 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315444 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1315446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1315446 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:1826 epilepsy ISO RGD:1315446 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:630 genetic disease ISO RGD:1315446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306687 Noxa1 NADPH oxidase activator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306688 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1306688 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1306688 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:630 genetic disease ISO RGD:1315448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306688 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315448 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306689 Mllt6 MLLT6, PHD finger containing gene DOID:630 genetic disease ISO RGD:1315450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315452 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0050632 oculocutaneous albinism ISS RGD:1315453 D RGD:13592920 20180518 MouseDO OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:25741868|PMID:28492532 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:1599921|PMID:14961451 20070221 RGD DNA:missense mutations, frameshift mutations:cds:multiple (human) 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:7240710 20130425 OMIM 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 PMID:11574907|PMID:14070830|PMID:14722913|PMID:14961451|PMID:15565285|PMID:15714523|PMID:16162179|PMID:16868655|PMID:17044855|PMID:17768386|PMID:21458243|PMID:23165166|PMID:24096233|PMID:24617981|PMID:24845642|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31229681 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:1315452 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:25741868|PMID:28492532 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:1909 melanoma ISO RGD:1315452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18563784|PMID:21559390 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:29345414 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:2513 basal cell carcinoma ISO RGD:1315452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:303 substance-related disorder ISO RGD:1315452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:630 genetic disease ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:8923 skin melanoma ISO RGD:1315452 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15714523|PMID:17044855|PMID:17999355|PMID:18563784|PMID:18683857|PMID:19578363|PMID:28492532 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:18821858|PMID:25741868|PMID:28266639|PMID:28492532|PMID:30868578 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315452 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:7240710 20200506 OMIM 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 PMID:15714523|PMID:17044855|PMID:17768386|PMID:17999355|PMID:18463683|PMID:18563784|PMID:18683857|PMID:19578363|PMID:21458243|PMID:24096233|PMID:25741868|PMID:26573111|PMID:27734839|PMID:28492532|PMID:29345414 1306690 Slc45a2 solute carrier family 45, member 2 gene DOID:9008459 Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum ISO RGD:12064380 D RGD:9068941 20230128 OMIA Coat colour, albinism, oculocutaneous type IV PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:35510419 1306691 Armc6 armadillo repeat containing 6 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1348624 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1306691 Armc6 armadillo repeat containing 6 gene DOID:630 genetic disease ISO RGD:1348624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306691 Armc6 armadillo repeat containing 6 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1306692 Serpinf2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:7240710 20130221 OMIM 1306692 Serpinf2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency PMID:10583218|PMID:2496145|PMID:7095605 1306692 Serpinf2 serpin family F member 2 gene DOID:0080600 COVID-19 severity ISO RGD:1315455 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNP: : 1306692 Serpinf2 serpin family F member 2 gene DOID:0080998 acute necrotizing pancreatitis IDA D RGD:1625538|PMID:10423332 20070613 RGD protein:increased expression:plasma 1306692 Serpinf2 serpin family F member 2 gene DOID:10591 pre-eclampsia ISO RGD:1315455 D RGD:1625535|PMID:1334334 20070613 RGD protein:increased expression:urine 1306692 Serpinf2 serpin family F member 2 gene DOID:10763 hypertension ISO RGD:1315455 D RGD:1625531|PMID:9361364 20070613 RGD 1306692 Serpinf2 serpin family F member 2 gene DOID:1168 familial hyperlipidemia IEP D RGD:1625536|PMID:2313941 20070613 RGD 1306692 Serpinf2 serpin family F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315455 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1306692 Serpinf2 serpin family F member 2 gene DOID:3393 coronary artery disease ISO RGD:1315455 D RGD:1625532|PMID:9184412 20070613 RGD 1306692 Serpinf2 serpin family F member 2 gene DOID:418 systemic scleroderma ISO RGD:1315455 D RGD:1625530|PMID:12595617 20070613 RGD protein:increased expression:plasma 1306692 Serpinf2 serpin family F member 2 gene DOID:630 genetic disease ISO RGD:1315455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306692 Serpinf2 serpin family F member 2 gene DOID:9000528 Coronary Disease ISO RGD:1315455 D RGD:1625529|PMID:15771120 20070613 RGD protein:increased expression:blood 1306692 Serpinf2 serpin family F member 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1315455 D RGD:1625534|PMID:1384011 20070613 RGD protein:decreased expression:serum 1306692 Serpinf2 serpin family F member 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315455 D RGD:1625533|PMID:9207984 20070613 RGD protein:increased expression:plasma 1306692 Serpinf2 serpin family F member 2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1315455 D RGD:1625537|PMID:6121140 20070613 RGD 1306692 Serpinf2 serpin family F member 2 gene DOID:9008217 Hemorrhage ISO RGD:1315455 D RGD:1580303|PMID:10583218 19990101 RGD DNA:missense mutation:cds:p.V384M (human) 1306692 Serpinf2 serpin family F member 2 gene DOID:9477 pulmonary embolism severity ISO RGD:1315456 D RGD:1580302|PMID:12911586 19990101 RGD 1306693 Bach1 BTB domain and CNC homolog 1 gene DOID:630 genetic disease ISO RGD:1315457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306694 Ccdc88a coiled coil domain containing 88A gene DOID:0080539 PEHO syndrome ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome PMID:25741868|PMID:26917597|PMID:28492532 1306694 Ccdc88a coiled coil domain containing 88A gene DOID:10907 microcephaly ISO RGD:1347801 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1306694 Ccdc88a coiled coil domain containing 88A gene DOID:630 genetic disease ISO RGD:1347801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306695 Pltp phospholipid transfer protein gene DOID:0080540 galactosialidosis ISO RGD:1315460 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 1306695 Pltp phospholipid transfer protein gene DOID:10140 dry eye syndrome ISS RGD:1315461 D RGD:13592920 20180518 MouseDO 1306695 Pltp phospholipid transfer protein gene DOID:1936 atherosclerosis ISO RGD:1315460 D RGD:1581039|PMID:12835223 19990101 RGD protein:increased expression:coronary artery (human) 1306695 Pltp phospholipid transfer protein gene DOID:2234 focal epilepsy ISO RGD:1315460 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1306695 Pltp phospholipid transfer protein gene DOID:630 genetic disease ISO RGD:1315460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306695 Pltp phospholipid transfer protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1306695 Pltp phospholipid transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1315460 D RGD:1581038|PMID:14695459 19990101 RGD protein:increased expression:serum (human) 1306695 Pltp phospholipid transfer protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306695 Pltp phospholipid transfer protein gene DOID:9003370 Dyslipidemias ISO RGD:1315460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 1306695 Pltp phospholipid transfer protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 1306695 Pltp phospholipid transfer protein gene DOID:9007692 Insulin Resistance ISO RGD:1315460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 1306696 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306696 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:630 genetic disease ISO RGD:1315462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306696 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:9002801 Recurrence ISO RGD:1315462 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1306696 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315462 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1306696 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:905 Zellweger syndrome ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306697 Wdr91 WD repeat domain 91 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606020 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306697 Wdr91 WD repeat domain 91 gene DOID:630 genetic disease ISO RGD:1606020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306698 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1607045 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306698 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:1059 intellectual disability ISO RGD:1607045 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306698 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:630 genetic disease ISO RGD:1607045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306698 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607045 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12068297|PMID:14709598|PMID:15358787|PMID:17483098 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:1599005|PMID:12068297 20070111 RGD DNA:deletions, snp, missense mutations:multiple (human) 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:7240710 20130221 OMIM 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica PMID:11035780|PMID:11254458|PMID:12032886|PMID:12068297|PMID:12787121|PMID:12955721|PMID:14709598|PMID:16199547|PMID:19370757|PMID:20981092|PMID:21165302|PMID:21762381|PMID:24033266|PMID:25741868|PMID:26351177|PMID:28492532|PMID:31979155|PMID:33837739 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1315470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:2722 acrodermatitis ISO RGD:1315470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16714095|PMID:16819703|PMID:16889938|PMID:17190629|PMID:17202136 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:4621 holoprosencephaly ISO RGD:1315470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:630 genetic disease ISO RGD:1315470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032886|PMID:12955721|PMID:16199547|PMID:21762381|PMID:25741868|PMID:28492532 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20957146 1306701 Slc39a4 solute carrier family 39 member 4 gene DOID:9007023 Prenatal Injuries ISO RGD:1315470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17483098 1306702 Tmem184a transmembrane protein 184A gene DOID:630 genetic disease ISO RGD:1603256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306703 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306703 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306703 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601715 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306703 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306705 Tmem237 transmembrane protein 237 gene DOID:0050777 Joubert syndrome ISO RGD:1315474 D RGD:11561921|PMID:22152675 20161111 RGD DNA:nonsense,transition mutations:cds,splice junction: 1306705 Tmem237 transmembrane protein 237 gene DOID:0050777 Joubert syndrome ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17603801|PMID:22152675|PMID:22981120|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31019026|PMID:31710777 1306705 Tmem237 transmembrane protein 237 gene DOID:0050778 Meckel syndrome ISO RGD:1315474 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065|PMID:25741868 1306705 Tmem237 transmembrane protein 237 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306705 Tmem237 transmembrane protein 237 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306705 Tmem237 transmembrane protein 237 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 1306705 Tmem237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:7240710 20140911 OMIM 1306705 Tmem237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:14760273|PMID:16199547|PMID:17576681|PMID:17603801|PMID:22152675|PMID:22981120|PMID:23351400|PMID:24033266|PMID:24315819|PMID:25558065|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28600779|PMID:31019026|PMID:31710777|PMID:9536098 1306705 Tmem237 transmembrane protein 237 gene DOID:630 genetic disease ISO RGD:1315474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306705 Tmem237 transmembrane protein 237 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315474 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1306705 Tmem237 transmembrane protein 237 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315474 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306705 Tmem237 transmembrane protein 237 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1315474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 1306705 Tmem237 transmembrane protein 237 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306706 Rttn rotatin gene DOID:0050581 brachydactyly ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 1306706 Rttn rotatin gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome VI PMID:25741868 1306706 Rttn rotatin gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315475 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1306706 Rttn rotatin gene DOID:0070297 primary microcephaly ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868|PMID:26608784 1306706 Rttn rotatin gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868 1306706 Rttn rotatin gene DOID:1059 intellectual disability ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1306706 Rttn rotatin gene DOID:10907 microcephaly ISO RGD:1315475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26608784|PMID:26846091|PMID:28492532 1306706 Rttn rotatin gene DOID:11383 cryptorchidism ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Unilateral cryptorchidism PMID:25741868 1306706 Rttn rotatin gene DOID:1826 epilepsy ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868 1306706 Rttn rotatin gene DOID:630 genetic disease ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306706 Rttn rotatin gene DOID:6420 pulmonary valve stenosis ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1306706 Rttn rotatin gene DOID:8445 intestinal volvulus ISO RGD:1315475 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1306706 Rttn rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:7240710 20140911 OMIM 1306706 Rttn rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures PMID:22939636|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26608784|PMID:26940245|PMID:28492532|PMID:30121372 1306706 Rttn rotatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315475 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306706 Rttn rotatin gene DOID:9005603 Muscle Hypotonia ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 1306706 Rttn rotatin gene DOID:9008419 Volvulus Of Midgut ISO RGD:1315475 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0080855 Parkinsonism ISO RGD:1315476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:7240710 20160203 OMIM 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:18243799|PMID:18420150|PMID:24033266|PMID:24142417|PMID:25142429|PMID:25737287|PMID:25741868|PMID:26231208|PMID:26990861|PMID:28492532|PMID:29279192 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1315476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1315476 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1059 intellectual disability ISO RGD:1315476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:25741868|PMID:28492532 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:630 genetic disease ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9001502 Congenital Microtia ISO RGD:1315476 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9002500 Hearing Disorders ISO RGD:1315476 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9004538 Hearing Loss ISO RGD:1315476 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7777145|PMID:21897745 20140103 RGD 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005941 Rhinosinusitis severity ISO RGD:1315476 D RGD:7777146|PMID:22961479 20140103 RGD associated with Nasal Polyps 1306707 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1315476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22194846 1306708 Traf4 Tnf receptor associated factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1315478 D RGD:151665107|PMID:29254206 20220310 RGD mRNA:increased expression:lung (human) 1306708 Traf4 Tnf receptor associated factor 4 gene DOID:630 genetic disease ISO RGD:1315478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306708 Traf4 Tnf receptor associated factor 4 gene DOID:9000998 Brain Injuries ISO RGD:1315478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1306709 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1306709 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:543 dystonia ISO RGD:1315480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1306709 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:630 genetic disease ISO RGD:1315480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306709 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1306710 Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 gene DOID:1059 intellectual disability ISO RGD:1315482 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306710 Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 gene DOID:5419 schizophrenia ISO RGD:1315482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1306710 Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 gene DOID:630 genetic disease ISO RGD:1315482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306710 Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1306710 Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1306711 Gpa33 glycoprotein A33 gene DOID:1540 parathyroid carcinoma ISO RGD:1315484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306711 Gpa33 glycoprotein A33 gene DOID:630 genetic disease ISO RGD:1315484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306711 Gpa33 glycoprotein A33 gene DOID:9007432 Latent Tuberculosis ISO RGD:1315484 D RGD:9068941 20210212 RGD mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 1306711 Gpa33 glycoprotein A33 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315484 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306712 Atp8b4 ATPase phospholipid transporting 8B4 (putative) gene DOID:2717 Bloom syndrome ISO RGD:1315485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306712 Atp8b4 ATPase phospholipid transporting 8B4 (putative) gene DOID:630 genetic disease ISO RGD:1315485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306712 Atp8b4 ATPase phospholipid transporting 8B4 (putative) gene DOID:9256 colorectal cancer ISO RGD:1315485 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306713 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1306713 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 gene DOID:2717 Bloom syndrome ISO RGD:1315487 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306713 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 gene DOID:3393 coronary artery disease ISO RGD:1315487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 1306713 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 gene DOID:630 genetic disease ISO RGD:1315487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306713 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 gene DOID:9000528 Coronary Disease ISO RGD:1315487 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 1306713 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 gene DOID:9256 colorectal cancer ISO RGD:1315487 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306714 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:11537472|PMID:21496009 20161005 RGD DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:11537473|PMID:26577670 20161005 RGD DNA:mutation:cds:c.390G > A(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:11537475|PMID:21961505 20161005 RGD DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:7240710 20141015 OMIM 1306714 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:22775483|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28004384|PMID:28377545|PMID:28492532|PMID:28756000|PMID:31130284|PMID:33604570|PMID:3440221|PMID:34402213|PMID:9536098 1306714 Wdr62 WD repeat domain 62 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1315489 D RGD:11541051|PMID:25303973 20161006 RGD DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1315489 D RGD:11541056|PMID:22308068 20161006 RGD DNA:missense mutation:cds:c.1198G> A(p.E400K)(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:28492532|PMID:28756000|PMID:31130284 1306714 Wdr62 WD repeat domain 62 gene DOID:0080918 polymicrogyria ISO RGD:1315489 D RGD:11541050|PMID:21834044 20161006 RGD DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1315489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23341463 1306714 Wdr62 WD repeat domain 62 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1306714 Wdr62 WD repeat domain 62 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1306714 Wdr62 WD repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:1315489 D RGD:11541059|PMID:24479948 20161006 RGD DNA:insertion:cds:c.1821dupT(p.R608Sfs*26)(human) 1306714 Wdr62 WD repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:1315489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1306714 Wdr62 WD repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18414213|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:9536098 1306714 Wdr62 WD repeat domain 62 gene DOID:10907 microcephaly ISO RGD:1315489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20890278|PMID:20890279 1306714 Wdr62 WD repeat domain 62 gene DOID:10907 microcephaly ISO RGD:1315489 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 1306714 Wdr62 WD repeat domain 62 gene DOID:10907 microcephaly ISO RGD:1553526 D RGD:11541053|PMID:24875059 20161006 RGD 1306714 Wdr62 WD repeat domain 62 gene DOID:1826 epilepsy ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1306714 Wdr62 WD repeat domain 62 gene DOID:630 genetic disease ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28756000|PMID:31130284|PMID:33604570 1306714 Wdr62 WD repeat domain 62 gene DOID:684 hepatocellular carcinoma ISO RGD:1315489 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306714 Wdr62 WD repeat domain 62 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:18414213|PMID:25741868|PMID:28492532|PMID:33604570 1306714 Wdr62 WD repeat domain 62 gene DOID:9006534 Nervous System Malformations ISO RGD:1315489 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1306714 Wdr62 WD repeat domain 62 gene DOID:9007661 Dwarfism ISO RGD:1553526 D RGD:11541053|PMID:24875059 20161006 RGD 1306714 Wdr62 WD repeat domain 62 gene DOID:9008086 Developmental Disabilities ISO RGD:1315489 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 1306715 Rev1 REV1, DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1315491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306716 C1qa complement C1q A chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315493 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1306716 C1qa complement C1q A chain gene DOID:0050486 exanthem ISO RGD:1315493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 1306716 C1qa complement C1q A chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1306716 C1qa complement C1q A chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1306716 C1qa complement C1q A chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1306716 C1qa complement C1q A chain gene DOID:0080600 COVID-19 ISO RGD:1315493 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306716 C1qa complement C1q A chain gene DOID:11758 iron deficiency anemia IEP D RGD:2301196|PMID:18723004 20150804 RGD mRNA:increased expression:hippocampus: 1306716 C1qa complement C1q A chain gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1315493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 1306716 C1qa complement C1q A chain gene DOID:1826 epilepsy ISS RGD:1315494 D RGD:13592920 20180518 MouseDO 1306716 C1qa complement C1q A chain gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1315493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 1306716 C1qa complement C1q A chain gene DOID:2921 glomerulonephritis susceptibility ISO RGD:1315493 D RGD:1600549|PMID:8840296 20070313 RGD DNA:nonsense mutation (human) 1306716 C1qa complement C1q A chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1315493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8840296|PMID:25133636 1306716 C1qa complement C1q A chain gene DOID:630 genetic disease ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306716 C1qa complement C1q A chain gene DOID:9000998 Brain Injuries IEP D RGD:10054313|PMID:23808389 20150804 RGD 1306716 C1qa complement C1q A chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306716 C1qa complement C1q A chain gene DOID:9005556 C1q Deficiency 1 ISO RGD:1315493 D RGD:7240710 20230505 OMIM 1306716 C1qa complement C1q A chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1306716 C1qa complement C1q A chain gene DOID:9007516 C1q Deficiency ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:21654842|PMID:25741868|PMID:26563161|PMID:28492532|PMID:29739689|PMID:30008451|PMID:7594474|PMID:8840296|PMID:9225968 1306716 C1qa complement C1q A chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315493 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1306716 C1qa complement C1q A chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1315493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 1306717 Nat10 N-acetyltransferase 10 gene DOID:1059 intellectual disability ISO RGD:1605376 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306717 Nat10 N-acetyltransferase 10 gene DOID:630 genetic disease ISO RGD:1605376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306718 Adgrf2 adhesion G protein-coupled receptor F2 gene DOID:630 genetic disease ISO RGD:1343922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306719 Nudt7 nudix hydrolase 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1350832 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1306719 Nudt7 nudix hydrolase 7 gene DOID:630 genetic disease ISO RGD:1350832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306719 Nudt7 nudix hydrolase 7 gene DOID:9007188 Liver Neoplasms ISO RGD:1350832 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 1306720 Mrps35 mitochondrial ribosomal protein S35 gene DOID:630 genetic disease ISO RGD:1315499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25848748 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:23329068|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:28099038|PMID:28492532 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1345647 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345647 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345647 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29344583|PMID:30523342|PMID:9536098 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070020 autosomal dominant dyskeratosis congenita 4 ISO RGD:1345647 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 PMID:23329068|PMID:23453664|PMID:23959892|PMID:25607374|PMID:25741868|PMID:27128385|PMID:28099038|PMID:28492532|PMID:28930861 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:7240710 20140911 OMIM 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:16199547|PMID:17576681|PMID:19461895|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23591994|PMID:23692823|PMID:23729807|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25182133|PMID:25607374|PMID:25620558|PMID:25640679|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:26847928|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27540018|PMID:27779742|PMID:27824607|PMID:28099038|PMID:28192371|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523160|PMID:30523342|PMID:30995915|PMID:31268371|PMID:32662942|PMID:34021146|PMID:9536098 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:17576681|PMID:23959892|PMID:26847928|PMID:28492532|PMID:9536098 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345647 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1345647 D RGD:152995257|PMID:31762827 20220609 RGD DNA:SNP:cds:rs2297441|rs3208008 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:10325 silicosis IEP D RGD:152977761|PMID:29230030 20220606 RGD mRNA:decreased expression:lung (rat) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:10907 microcephaly ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1345647 D RGD:152993553|PMID:27765928 20220609 RGD DNA:SNP:cds:rs2738789 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1345647 D RGD:152993553|PMID:27765928 20220609 RGD DNA:SNP:cds:rs7261546|rs6062299|rs3787098 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:1909 melanoma ISO RGD:1345647 D RGD:152995261|PMID:25231748 20220610 RGD DNA:SNP:cds:rs75691080 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:19461895|PMID:23329068|PMID:23453664|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27824607|PMID:28099038|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523342|PMID:30995915|PMID:31268371|PMID:34021146|PMID:9536098 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3070 high grade glioma ISO RGD:1345647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor ameliorates ISO RGD:1345647 D RGD:152985535|PMID:26014354 20220607 RGD DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor susceptibility ISO RGD:1345647 D RGD:152985535|PMID:26014354 20220607 RGD DNA:SNP:cds:rs4809324 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3083 chronic obstructive pulmonary disease ameliorates ISO RGD:1345647 D RGD:152985694|PMID:28360516 20220608 RGD DNA:SNP:cds:rs4809324 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1345647 D RGD:152995256|PMID:27366209 20220609 RGD DNA:amplification:cds: (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:23329068|PMID:23453664|PMID:23959892|PMID:24033266|PMID:25047097|PMID:25607374|PMID:25741868|PMID:25848748|PMID:27128385|PMID:27540018|PMID:28099038|PMID:28192371|PMID:28492532|PMID:28930861|PMID:29361909 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:5076 mixed glioma susceptibility ISO RGD:1345647 D RGD:152977767|PMID:30462709 20220606 RGD DNA:SNPs:multiple:multiple (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:630 genetic disease ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:26847928|PMID:28492532|PMID:29344583|PMID:30523342|PMID:31268371|PMID:9536098 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9000528 Coronary Disease ameliorates ISO RGD:1345647 D RGD:152985693|PMID:30623606 20220608 RGD DNA:SNP:cds:rs6010620|rs4809324 (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1345647 D RGD:152977765|PMID:23959892 20220606 RGD DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345647 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:7240710 20150624 OMIM 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24130156|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:27779742|PMID:28492532|PMID:29344583|PMID:30523342 1306721 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1345647 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603662 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:7240710 20130221 OMIM 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23343605|PMID:23349334|PMID:23758206|PMID:24033266|PMID:24988567|PMID:25349199|PMID:25373618|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30180404|PMID:30295827|PMID:30613928|PMID:32604935|PMID:32746448 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:10603 glucose intolerance IEP D RGD:10755343|PMID:26296322 20160907 RGD associated with obesity 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:1184 nephrotic syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:24033266|PMID:25741868|PMID:28492532 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:4752 multiple system atrophy ISO RGD:1603662 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:4752 multiple system atrophy ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:17420317|PMID:23758206|PMID:24988567|PMID:24988568|PMID:24988569|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:557 kidney disease ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:630 genetic disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27394078|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928|PMID:32746448 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9002322 Shy-Drager Syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Drager syndrome PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:7240710 20230505 OMIM 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9007692 Insulin Resistance IEP D RGD:10755343|PMID:26296322 20160907 RGD associated with obesity 1306722 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:936 brain disease ISO RGD:1603662 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:21276947|PMID:25326635|PMID:25741868|PMID:26942291|PMID:26942292 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:1826 epilepsy ISO RGD:1315504 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1315504 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21276947|PMID:23711981|PMID:25741868|PMID:26467025|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532|PMID:29358611 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315504 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1306723 Prickle2 prickle planar cell polarity protein 2 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 1306725 Ahsp alpha hemoglobin stabilizing protein gene DOID:630 genetic disease ISO RGD:1315507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306726 Six4 SIX homeobox 4 gene DOID:630 genetic disease ISO RGD:1315508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306726 Six4 SIX homeobox 4 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 1306727 B3galt5 Beta-1,3-galactosyltransferase 5 gene DOID:12849 autistic disorder ISO RGD:1315510 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306727 B3galt5 Beta-1,3-galactosyltransferase 5 gene DOID:1793 pancreatic cancer ISO RGD:1315510 D RGD:2317558|PMID:14555842 20100409 RGD mRNA:increased expression:pancreas 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0050777 Joubert syndrome ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306728 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1315512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306729 Bicdl2 BICD family like cargo adaptor 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1306729 Bicdl2 BICD family like cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1306729 Bicdl2 BICD family like cargo adaptor 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1626601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306729 Bicdl2 BICD family like cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1626601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306730 Mcmbp minichromosome maintenance complex binding protein gene DOID:630 genetic disease ISO RGD:1315515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306731 Nrap nebulin-related anchoring protein gene DOID:0050700 cardiomyopathy ISO RGD:1315517 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:33534821 1306731 Nrap nebulin-related anchoring protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1315517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 1306731 Nrap nebulin-related anchoring protein gene DOID:630 genetic disease ISO RGD:1315517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306731 Nrap nebulin-related anchoring protein gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1315517 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia 1306731 Nrap nebulin-related anchoring protein gene DOID:9007820 Sudden Death ISO RGD:1315517 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 1306732 Sigirr single Ig and TIR domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1306732 Sigirr single Ig and TIR domain containing gene DOID:0080600 COVID-19 ISO RGD:1604804 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306732 Sigirr single Ig and TIR domain containing gene DOID:0111969 immunodeficiency 39 ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1306732 Sigirr single Ig and TIR domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1306732 Sigirr single Ig and TIR domain containing gene DOID:630 genetic disease ISO RGD:1604804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306733 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315520 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1306733 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:630 genetic disease ISO RGD:1315520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:0050545 visceral heterotaxy ISO RGD:1344036 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:1059 intellectual disability ISO RGD:1344036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:630 genetic disease ISO RGD:1344036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:758 situs inversus ISO RGD:1344036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:7240710 20190315 OMIM 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:9536098 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:9565 dextrocardia ISO RGD:1344036 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:26531781 1306734 Cfap53 cilia and flagella associated protein 53 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1344036 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1306735 Sympk symplekin scaffold protein gene DOID:630 genetic disease ISO RGD:1315523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306735 Sympk symplekin scaffold protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306735 Sympk symplekin scaffold protein gene DOID:9000918 Disease Progression ISO RGD:1315523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306737 Aldh1b1 aldehyde dehydrogenase 1 family, member B1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1315525 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 1306737 Aldh1b1 aldehyde dehydrogenase 1 family, member B1 gene DOID:13580 cholestasis ISO RGD:1315525 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1306737 Aldh1b1 aldehyde dehydrogenase 1 family, member B1 gene DOID:630 genetic disease ISO RGD:1315525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306737 Aldh1b1 aldehyde dehydrogenase 1 family, member B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650968|PMID:25380136 1306737 Aldh1b1 aldehyde dehydrogenase 1 family, member B1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1315525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25641190 1306737 Aldh1b1 aldehyde dehydrogenase 1 family, member B1 gene DOID:9005369 Hepatomegaly ISO RGD:1315525 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1306738 Tfcp2 transcription factor CP2 gene DOID:630 genetic disease ISO RGD:1315527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306739 Cabcoco1 ciliary associated calcium binding coiled-coil 1 gene DOID:9005369 Hepatomegaly ISO RGD:1315529 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1306740 Zfp692 zinc finger protein 692 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1306740 Zfp692 zinc finger protein 692 gene DOID:630 genetic disease ISO RGD:1604343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306740 Zfp692 zinc finger protein 692 gene DOID:9002189 High Myopia ISO RGD:1604343 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306741 Clmn calmin gene DOID:630 genetic disease ISO RGD:1315532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306743 Mta2 metastasis associated 1 family, member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1306743 Mta2 metastasis associated 1 family, member 2 gene DOID:1059 intellectual disability ISO RGD:1315535 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306743 Mta2 metastasis associated 1 family, member 2 gene DOID:289 endometriosis ISO RGD:1315535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1306743 Mta2 metastasis associated 1 family, member 2 gene DOID:630 genetic disease ISO RGD:1315535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306743 Mta2 metastasis associated 1 family, member 2 gene DOID:9074 systemic lupus erythematosus ISS RGD:1315536 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1306744 Nkx1-2 NK1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1315537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306745 Gpr39 G protein-coupled receptor 39 gene DOID:630 genetic disease ISO RGD:1315539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306746 RGD1306746 similar to Hypothetical protein MGC25529 gene DOID:630 genetic disease ISO RGD:1603029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306747 Lcn8 lipocalin 8 gene DOID:0050777 Joubert syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1306747 Lcn8 lipocalin 8 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1306747 Lcn8 lipocalin 8 gene DOID:3652 Leigh disease ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1306747 Lcn8 lipocalin 8 gene DOID:630 genetic disease ISO RGD:1343207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306747 Lcn8 lipocalin 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1306748 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:1037 lymphoid leukemia ISS RGD:1315544 D RGD:13592920 20180830 MouseDO 1306748 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1315543 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 1306748 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:630 genetic disease ISO RGD:1315543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306748 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315543 D RGD:7240710 20230505 OMIM 1306749 Rabl2 RAB, member of RAS oncogene family like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:25255310 1306749 Rabl2 RAB, member of RAS oncogene family like 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1353591 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1306749 Rabl2 RAB, member of RAS oncogene family like 2 gene DOID:1059 intellectual disability ISO RGD:1353591 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 1306749 Rabl2 RAB, member of RAS oncogene family like 2 gene DOID:630 genetic disease ISO RGD:1353591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306751 Rbmxl1 Rbmx like 1 gene DOID:630 genetic disease ISO RGD:1603234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306752 Tm7sf3 transmembrane 7 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1315548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306753 Pigk phosphatidylinositol glycan anchor biosynthesis, class K gene DOID:630 genetic disease ISO RGD:1315550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306753 Pigk phosphatidylinositol glycan anchor biosynthesis, class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:7240710 20200715 OMIM 1306753 Pigk phosphatidylinositol glycan anchor biosynthesis, class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures PMID:25741868|PMID:32220290|PMID:33392778 1306755 Txndc16 thioredoxin domain containing 16 gene DOID:630 genetic disease ISO RGD:1315553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306756 Tbcc tubulin folding cofactor C gene DOID:0050444 infantile Refsum disease ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306756 Tbcc tubulin folding cofactor C gene DOID:630 genetic disease ISO RGD:1315555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306756 Tbcc tubulin folding cofactor C gene DOID:905 Zellweger syndrome ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1306757 Rnf125 ring finger protein 125 gene DOID:1059 intellectual disability ISO RGD:1315557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306757 Rnf125 ring finger protein 125 gene DOID:630 genetic disease ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306757 Rnf125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:7240710 20170419 OMIM 1306757 Rnf125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tenorio syndrome PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401 1306758 Gtpbp1 GTP binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306758 Gtpbp1 GTP binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306758 Gtpbp1 GTP binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1306758 Gtpbp1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:17576681|PMID:28492532|PMID:9536098 1306758 Gtpbp1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 1306758 Gtpbp1 GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1315559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306759 Dennd5a DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:7240710 20190315 OMIM 1306759 Dennd5a DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 1306759 Dennd5a DENN domain containing 5A gene DOID:1826 epilepsy ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 1306759 Dennd5a DENN domain containing 5A gene DOID:630 genetic disease ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 1306761 Prodh2 proline dehydrogenase 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1306761 Prodh2 proline dehydrogenase 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1306761 Prodh2 proline dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1315565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306761 Prodh2 proline dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:1606676 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1606676 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:14693 Clouston syndrome ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 1306762 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306763 Foxred2 FAD-dependent oxidoreductase domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1306763 Foxred2 FAD-dependent oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306764 Kdelr1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:630 genetic disease ISO RGD:1315569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306764 Kdelr1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1306765 Ggn gametogenetin gene DOID:630 genetic disease ISO RGD:1315571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306765 Ggn gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:7240710 20220427 OMIM 1306765 Ggn gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 69 PMID:31985809|PMID:33108537 1306766 Ccdc81 coiled-coil domain containing 81 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1605353 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1306766 Ccdc81 coiled-coil domain containing 81 gene DOID:1059 intellectual disability ISO RGD:1605353 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306766 Ccdc81 coiled-coil domain containing 81 gene DOID:630 genetic disease ISO RGD:1605353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306767 Tpd52 tumor protein D52 gene DOID:630 genetic disease ISO RGD:1315573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306767 Tpd52 tumor protein D52 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315573 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17875733|PMID:27415467 1306767 Tpd52 tumor protein D52 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315573 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1306768 Sp6 Sp6 transcription factor gene DOID:2187 amelogenesis imperfecta IMP D RGD:10047189|PMID:22676574 20210421 RGD 1306768 Sp6 Sp6 transcription factor gene DOID:630 genetic disease ISO RGD:1315575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306768 Sp6 Sp6 transcription factor gene DOID:9002275 Amelogenesis Imperfecta Type 1K ISO RGD:1315575 D RGD:7240710 20221102 OMIM 1306769 Tm2d2 TM2 domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1306769 Tm2d2 TM2 domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1306769 Tm2d2 TM2 domain containing 2 gene DOID:607 paraplegia ISO RGD:1602456 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1306769 Tm2d2 TM2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1602456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306770 S100a16 S100 calcium binding protein A16 gene DOID:0111940 immunodeficiency 42 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1306770 S100a16 S100 calcium binding protein A16 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1306770 S100a16 S100 calcium binding protein A16 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1315577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1306770 S100a16 S100 calcium binding protein A16 gene DOID:1540 parathyroid carcinoma ISO RGD:1315577 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306770 S100a16 S100 calcium binding protein A16 gene DOID:5812 MHC class II deficiency ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306770 S100a16 S100 calcium binding protein A16 gene DOID:630 genetic disease ISO RGD:1315577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306770 S100a16 S100 calcium binding protein A16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315577 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306771 Cdan1 codanin 1 gene DOID:0111396 congenital dyserythropoietic anemia type I ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I PMID:12434312|PMID:12825070|PMID:16098079|PMID:16141353|PMID:16754775|PMID:17576681|PMID:18081704|PMID:18575862|PMID:20301759|PMID:22407294|PMID:23065504|PMID:24196372|PMID:25741868|PMID:25741869|PMID:27432187|PMID:27827297|PMID:28102861|PMID:28132690|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29668551|PMID:29676459|PMID:29901818|PMID:29936674|PMID:30487145|PMID:30836435|PMID:31900952|PMID:32160409|PMID:32518175|PMID:33401150|PMID:33777192|PMID:34782754|PMID:9536098 1306771 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:1600473|PMID:12434312 20070309 RGD DNA:missense mutations, nonsense mutations:cds:multiple 1306771 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:40903075|PMID:16754775 20210111 RGD DNA:mutations:multiple 1306771 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:40903076|PMID:29031773 20210111 RGD DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple 1306771 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:40903077|PMID:15543010 20210111 RGD DNA:missense mutation:cds:p.R1042W (human) 1306771 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:7240710 20191009 OMIM 1306771 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDA, TYPE Ia | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia PMID:12434312|PMID:16098079|PMID:17576681|PMID:18081704|PMID:20301759|PMID:24196372|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27432187|PMID:28102861|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29599085|PMID:29676459|PMID:29936674|PMID:30836435|PMID:31900952|PMID:33401150|PMID:34782754|PMID:9536098 1306771 Cdan1 codanin 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1315579 D RGD:11081155|PMID:16098079 20160526 RGD DNA:mutations:multiple (human) 1306771 Cdan1 codanin 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1315579 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism 1306771 Cdan1 codanin 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1315579 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 1306771 Cdan1 codanin 1 gene DOID:2717 Bloom syndrome ISO RGD:1315579 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306771 Cdan1 codanin 1 gene DOID:630 genetic disease ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306771 Cdan1 codanin 1 gene DOID:9256 colorectal cancer ISO RGD:1315579 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306772 Rita1 RBPJ interacting and tubulin associated 1 gene DOID:630 genetic disease ISO RGD:1602853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306773 Ube3d ubiquitin protein ligase E3D gene DOID:0111953 immunodeficiency 23 ISO RGD:1315581 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 1306773 Ube3d ubiquitin protein ligase E3D gene DOID:630 genetic disease ISO RGD:1315581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306774 Tada1 transcriptional adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606748 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306774 Tada1 transcriptional adaptor 1 gene DOID:630 genetic disease ISO RGD:1606748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306774 Tada1 transcriptional adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606748 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602205 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:12236 primary biliary cholangitis ISS RGD:1618974 D RGD:13592920 20210708 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:14115 toxic shock syndrome ISO RGD:1618974 D RGD:39938961|PMID:23422584 20201015 RGD 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:14262 oral candidiasis ISO RGD:1618974 D RGD:11534569|PMID:26320658 20201015 RGD 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:2043 hepatitis B treatment ISO RGD:1602205 D RGD:39938973|PMID:31926181 20201016 RGD human gene in a mouse model 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:630 genetic disease ISO RGD:1602205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:874 bacterial pneumonia ISO RGD:1618974 D RGD:39938967|PMID:29695841 20201016 RGD associated with Pseudomonas Infections 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:9000469 Viral Myocarditis disease_progression ISO RGD:1618974 D RGD:39938975|PMID:29043433 20201016 RGD associated with Coxsackievirus Infections; mRNA,protein:increased expression:heart,pancreas (mouse) 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1602205 D RGD:9068941 20201016 RGD protein:increased expression:liver (human) PMID:21739451|REF_RGD_ID:39938976 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1602205 D RGD:39938960|PMID:25225661 20201015 RGD protein:increased expression:liver (human) 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:9004610 Acute Lung Injury severity ISO RGD:1618974 D RGD:39938961|PMID:23422584 20201015 RGD associated with toxic shock syndrome 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1602205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22196138 1306776 Zc3h12a zinc finger CCCH type containing 12A gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1618974 D RGD:11534569|PMID:26320658 20201015 RGD 1306777 Gimap1 GTPase, IMAP family member 1 gene DOID:2843 long QT syndrome ISO RGD:1350070 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1306777 Gimap1 GTPase, IMAP family member 1 gene DOID:630 genetic disease ISO RGD:1350070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306778 Rorb RAR-related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 PMID:16199547|PMID:25356972|PMID:25741868|PMID:27352968|PMID:28492532 1306778 Rorb RAR-related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 susceptibility ISO RGD:1315588 D RGD:7240710 20190904 OMIM 1306778 Rorb RAR-related orphan receptor B gene DOID:1826 epilepsy ISO RGD:1315588 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1306778 Rorb RAR-related orphan receptor B gene DOID:289 endometriosis ISO RGD:1315588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1306778 Rorb RAR-related orphan receptor B gene DOID:630 genetic disease ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356972|PMID:27352968|PMID:28492532 1306778 Rorb RAR-related orphan receptor B gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1315588 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:25950944 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:7240710 20151216 OMIM 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:16041373|PMID:16431024|PMID:16807408|PMID:16941655|PMID:16954699|PMID:17576681|PMID:17956895|PMID:20301378|PMID:20352044|PMID:20592581|PMID:20625756|PMID:21222599|PMID:22521643|PMID:22527221|PMID:23155438|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26777436|PMID:26836416|PMID:28166811|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29431110|PMID:29486463|PMID:29525180|PMID:30054184|PMID:30766798|PMID:32638105|PMID:9536098 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16807408 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:5688711|PMID:16807408 20120301 RGD DNA:mutations:cds:Q206H, I29V (human) 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:630 genetic disease ISO RGD:1603668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:8725 vascular dementia ISO RGD:1603668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17956895 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:5688397|PMID:22366797 20120301 RGD 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:1603668 D RGD:5688712|PMID:20412296 20120301 RGD 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868|PMID:26467025 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16041373 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:5688398|PMID:16041373 20120301 RGD DNA:mutations:cds 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:5688716|PMID:19202337 20120302 RGD DNA:mutations: : 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 1306781 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia no_association ISO RGD:1603668 D RGD:5688721|PMID:16979267 20120302 RGD 1306783 Mettl18 methyltransferase 18, RPL3 N3-histidine gene DOID:1540 parathyroid carcinoma ISO RGD:1603373 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306783 Mettl18 methyltransferase 18, RPL3 N3-histidine gene DOID:630 genetic disease ISO RGD:1603373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306783 Mettl18 methyltransferase 18, RPL3 N3-histidine gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603373 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1306783 Mettl18 methyltransferase 18, RPL3 N3-histidine gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603373 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:3652 Leigh disease ISO RGD:1602721 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19503089 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1602721 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19503089 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:19503089|PMID:20727754|PMID:25741868|PMID:28492532 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:630 genetic disease ISO RGD:1602721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1602721 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:19503089|PMID:20727754|PMID:25741868 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:9007489 Mitochondrial Complex IV Deficiency, Nuclear Type 8 ISO RGD:1602721 D RGD:7240710 20201111 OMIM 1306784 Taco1 translational activator of cytochrome c oxidase I gene DOID:9007489 Mitochondrial Complex IV Deficiency, Nuclear Type 8 ISO RGD:1602721 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 PMID:19503089|PMID:20727754|PMID:25044680|PMID:25741868|PMID:28492532 1306785 Cope COPI coat complex subunit epsilon gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1315598 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1306785 Cope COPI coat complex subunit epsilon gene DOID:630 genetic disease ISO RGD:1315598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306785 Cope COPI coat complex subunit epsilon gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1306786 Rsph6a radial spoke head 6 homolog A gene DOID:630 genetic disease ISO RGD:1344817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306787 Hmbox1 homeobox containing 1 gene DOID:630 genetic disease ISO RGD:1603011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306788 Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315602 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1306788 Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 gene DOID:630 genetic disease ISO RGD:1315602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306789 Bin2 bridging integrator 2 gene DOID:630 genetic disease ISO RGD:1315604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306790 Mex3b mex-3 RNA binding family member B gene DOID:2717 Bloom syndrome ISO RGD:1346115 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306790 Mex3b mex-3 RNA binding family member B gene DOID:630 genetic disease ISO RGD:1346115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306790 Mex3b mex-3 RNA binding family member B gene DOID:9256 colorectal cancer ISO RGD:1346115 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306791 Dna2 DNA replication helicase/nuclease 2 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1315606 D RGD:8694132|PMID:24389050 20140724 RGD DNA:mutation:cds: 1306791 Dna2 DNA replication helicase/nuclease 2 gene DOID:699 mitochondrial myopathy ISO RGD:1315606 D RGD:10401079|PMID:23352259 20150924 RGD DNA:mutations:cds: 1306792 Atp13a5 ATPase 13A5 gene DOID:5419 schizophrenia ISO RGD:1343803 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306792 Atp13a5 ATPase 13A5 gene DOID:630 genetic disease ISO RGD:1343803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1315610 D RGD:9587749|PMID:22722839 20141016 RGD DNA:mutations: : 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:10283 prostate cancer ISO RGD:1315610 D RGD:9587750|PMID:22179824 20141016 RGD DNA:deletions: : 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1315610 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Autism 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1315610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315610 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315610 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:1315610 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30728766 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:7240710 20190315 OMIM 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome PMID:25741868|PMID:28492532|PMID:28866611 1306794 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315610 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1306795 Chd9 chromodomain helicase DNA binding protein 9 gene DOID:630 genetic disease ISO RGD:1315612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306796 Enam enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:1598908|PMID:11487571 20061221 RGD 1306796 Enam enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:7240710 20130221 OMIM 1306796 Enam enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local PMID:11487571|PMID:11978766|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:22414746|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359 1306796 Enam enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:7240710 20130221 OMIM 1306796 Enam enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:28492532 1306796 Enam enamelin gene DOID:2187 amelogenesis imperfecta ISO RGD:1315614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15649948|PMID:17652207 1306796 Enam enamelin gene DOID:2187 amelogenesis imperfecta ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:25741868|PMID:28492532 1306796 Enam enamelin gene DOID:630 genetic disease ISO RGD:1315614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306796 Enam enamelin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1306798 Lin52 lin-52 DREAM MuvB core complex component gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1315617 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1306798 Lin52 lin-52 DREAM MuvB core complex component gene DOID:1059 intellectual disability ISO RGD:1315617 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1306798 Lin52 lin-52 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1315617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306799 Usp24 ubiquitin specific peptidase 24 gene DOID:630 genetic disease ISO RGD:1315618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306799 Usp24 ubiquitin specific peptidase 24 gene DOID:9007661 Dwarfism ISO RGD:1315618 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1306800 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351667 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1306800 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1306800 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:630 genetic disease ISO RGD:1351667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306800 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351667 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1306801 Clvs2 clavesin 2 gene DOID:1826 epilepsy ISO RGD:1604529 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306801 Clvs2 clavesin 2 gene DOID:630 genetic disease ISO RGD:1604529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306802 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:1909 melanoma ISO RGD:1606990 D RGD:152995261|PMID:25231748 20220610 RGD DNA:SNP:cds:rs7675988 (human) 1306802 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:3770 pulmonary fibrosis ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868 1306802 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306802 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:9005771 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 ISO RGD:1606990 D RGD:7240710 20230517 OMIM 1306803 Mta3 metastasis associated 1 family, member 3 gene DOID:3883 Lynch syndrome ISO RGD:1315624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1306803 Mta3 metastasis associated 1 family, member 3 gene DOID:630 genetic disease ISO RGD:1315624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306803 Mta3 metastasis associated 1 family, member 3 gene DOID:9007661 Dwarfism ISO RGD:1315624 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:0080600 COVID-19 ISO RGD:1348156 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1348156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348156 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:630 genetic disease ISO RGD:1348156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348156 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306804 Creg1 cellular repressor of E1A-stimulated genes 1 gene DOID:9775 diastolic heart failure ISO RGD:1348156 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1306805 Zfp644 zinc finger protein 644 gene DOID:630 genetic disease ISO RGD:1604575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306805 Zfp644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:7240710 20140911 OMIM 1306805 Zfp644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 21, autosomal dominant PMID:21695231|PMID:25741868 1306807 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1315630 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 1306807 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:1826 epilepsy ISO RGD:1315630 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306807 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:5419 schizophrenia ISO RGD:1315630 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306807 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:630 genetic disease ISO RGD:1315630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306808 Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:1936 atherosclerosis ISO RGD:1315632 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 1306808 Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1315632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306808 Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1306809 Nadk2 NAD kinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1306809 Nadk2 NAD kinase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604237 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306809 Nadk2 NAD kinase 2, mitochondrial gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:1604237 D RGD:7240710 20171011 OMIM 1306809 Nadk2 NAD kinase 2, mitochondrial gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:1604237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:17576681|PMID:24847004|PMID:25741868|PMID:27940755|PMID:28492532|PMID:29388319|PMID:33223529|PMID:9536098 1306810 Rpa3 replication protein A3 gene DOID:630 genetic disease ISO RGD:1315635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1605560 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1605560 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:21419380|PMID:25741868|PMID:28492532 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:25741868|PMID:28492532|PMID:29389947|PMID:29915382 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:7240710 20140911 OMIM 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:7240710 20140911 OMIM 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605560 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1605560 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29915382 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605560 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1306811 Hepacam hepatic and glial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1605560 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1306813 Acsm1 acyl-CoA synthetase medium-chain family member 1 gene DOID:630 genetic disease ISO RGD:1315639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306813 Acsm1 acyl-CoA synthetase medium-chain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 1306814 Acoxl acyl-CoA oxidase-like gene DOID:630 genetic disease ISO RGD:1315641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306814 Acoxl acyl-CoA oxidase-like gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 1306815 Kif3b kinesin family member 3B gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1315643 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 1306815 Kif3b kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:7240710 20200722 OMIM 1306815 Kif3b kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 89 PMID:32386558 1306815 Kif3b kinesin family member 3B gene DOID:14228 oligospermia ISO RGD:1315643 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Oligospermia 1306815 Kif3b kinesin family member 3B gene DOID:5419 schizophrenia ISS RGD:1315644 D RGD:13592920 20200528 MouseDO OMIM:181500 1306815 Kif3b kinesin family member 3B gene DOID:630 genetic disease ISO RGD:1315643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306815 Kif3b kinesin family member 3B gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11049594|PMID:23093447 20160411 RGD protein:increased expression:spinal cord 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:7240710 20190315 OMIM 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kindler syndrome PMID:12668616|PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:27293055|PMID:27862150|PMID:28443301|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:1272 telangiectasis ISO RGD:1315645 D RGD:1600405|PMID:12668616 20070307 RGD Kindler syndrome, OMIM:173650 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:2731 vesiculobullous skin disease ISO RGD:1315645 D RGD:1600405|PMID:12668616 20070307 RGD Kindler syndrome, OMIM:173650 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:630 genetic disease ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:9004462 Atrophy ISO RGD:1315645 D RGD:1600405|PMID:12668616 20070307 RGD Kindler syndrome, OMIM:173650 1306816 Fermt1 FERM domain containing kindlin 1 gene DOID:9006976 Erythema ISO RGD:1315645 D RGD:1600405|PMID:12668616 20070307 RGD Kindler syndrome, OMIM:173650 1306817 Zfp516 zinc finger protein 516 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343458 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1306817 Zfp516 zinc finger protein 516 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1343458 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1306817 Zfp516 zinc finger protein 516 gene DOID:1059 intellectual disability ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306817 Zfp516 zinc finger protein 516 gene DOID:630 genetic disease ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306817 Zfp516 zinc finger protein 516 gene DOID:6420 pulmonary valve stenosis ISO RGD:1343458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1306817 Zfp516 zinc finger protein 516 gene DOID:8445 intestinal volvulus ISO RGD:1343458 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1306817 Zfp516 zinc finger protein 516 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1343458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1306817 Zfp516 zinc finger protein 516 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343458 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306817 Zfp516 zinc finger protein 516 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343458 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1306818 Slc66a3 solute carrier family 66 member 3 gene DOID:5419 schizophrenia ISO RGD:1315648 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306818 Slc66a3 solute carrier family 66 member 3 gene DOID:630 genetic disease ISO RGD:1315648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306818 Slc66a3 solute carrier family 66 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315648 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306818 Slc66a3 solute carrier family 66 member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1315648 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1602115 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1602115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1602115 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:25741868 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:630 genetic disease ISO RGD:1602115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:7240710 20170405 OMIM 1306819 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138|PMID:31057140|PMID:33092935 1306820 Edrf1 erythroid differentiation regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1322314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306821 Myh14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:7240710 20130221 OMIM 1306821 Myh14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A PMID:15015131|PMID:15845534|PMID:16222661|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 1306821 Myh14 myosin heavy chain 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1315652 D RGD:1600531|PMID:15015131 20070313 RGD DFNA4, OMIM:600652, DNA:point mutation:exon:S7X 1306821 Myh14 myosin heavy chain 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1315652 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1306821 Myh14 myosin heavy chain 14 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315652 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868 1306821 Myh14 myosin heavy chain 14 gene DOID:630 genetic disease ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 1306821 Myh14 myosin heavy chain 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1306821 Myh14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:7240710 20140911 OMIM 1306821 Myh14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss PMID:21480433|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26346818|PMID:26752647|PMID:27393652|PMID:27911912|PMID:28492532|PMID:30311386|PMID:31231018|PMID:35274842 1306821 Myh14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:30311386 1306821 Myh14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:29293505|PMID:30311386 1306821 Myh14 myosin heavy chain 14 gene DOID:9005230 Autosomal Dominant Deafness 4 ISO RGD:1315652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4 PMID:15015131|PMID:15845534|PMID:16222661|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 1306821 Myh14 myosin heavy chain 14 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1315652 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 1306822 Carf calcium responsive transcription factor gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306822 Carf calcium responsive transcription factor gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306822 Carf calcium responsive transcription factor gene DOID:14557 primary pulmonary hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1306822 Carf calcium responsive transcription factor gene DOID:3393 coronary artery disease ISO RGD:1315654 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 1306822 Carf calcium responsive transcription factor gene DOID:630 genetic disease ISO RGD:1315654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306822 Carf calcium responsive transcription factor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315654 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1306822 Carf calcium responsive transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315654 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306822 Carf calcium responsive transcription factor gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1603397 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:31784481 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603397 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1603397 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:10907 microcephaly ISO RGD:1603397 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191891 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:630 genetic disease ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:7240710 20200923 OMIM 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly-micromelia syndrome PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:7240710 20190315 OMIM 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488|PMID:8434992 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9005698 ZTTK Syndrome ISO RGD:1603397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9007661 Dwarfism ISO RGD:1603397 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191891 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9007661 Dwarfism ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851 1306823 Donson DNA replication fork stabilization factor DONSON gene DOID:9008443 Colorectal Neoplasms ISO RGD:1603397 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1306824 Zfp608 zinc finger protein 608 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306824 Zfp608 zinc finger protein 608 gene DOID:630 genetic disease ISO RGD:1315658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306824 Zfp608 zinc finger protein 608 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315658 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306824 Zfp608 zinc finger protein 608 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306825 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1315660 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 1306825 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:1826 epilepsy ISO RGD:1315660 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1306825 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:2717 Bloom syndrome ISO RGD:1315660 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306825 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:5419 schizophrenia ISO RGD:1315660 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306825 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:630 genetic disease ISO RGD:1315660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306825 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:9256 colorectal cancer ISO RGD:1315660 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306827 Agbl2 AGBL carboxypeptidase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1306827 Agbl2 AGBL carboxypeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1602682 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306827 Agbl2 AGBL carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1602682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306828 C1qc complement C1q C chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315664 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1306828 C1qc complement C1q C chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1306828 C1qc complement C1q C chain gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1315664 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 1306828 C1qc complement C1q C chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1306828 C1qc complement C1q C chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1306828 C1qc complement C1q C chain gene DOID:0080600 COVID-19 ISO RGD:1315664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306828 C1qc complement C1q C chain gene DOID:1883 hepatitis C ISO RGD:1315664 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 1306828 C1qc complement C1q C chain gene DOID:630 genetic disease ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306828 C1qc complement C1q C chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306828 C1qc complement C1q C chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1306828 C1qc complement C1q C chain gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1315664 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 1306828 C1qc complement C1q C chain gene DOID:9007516 C1q Deficiency ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:20635792|PMID:21654842|PMID:24157463|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7029321|PMID:7900940|PMID:8630118 1306828 C1qc complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:7240710 20230505 OMIM 1306828 C1qc complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 3 PMID:24157463|PMID:28492532|PMID:7029321|PMID:8630118 1306828 C1qc complement C1q C chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315664 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1306829 Tmem63a transmembrane protein 63a gene DOID:10579 leukodystrophy ISO RGD:1605419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:31587869 1306829 Tmem63a transmembrane protein 63a gene DOID:1227 neutropenia ISO RGD:1605419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1306829 Tmem63a transmembrane protein 63a gene DOID:1540 parathyroid carcinoma ISO RGD:1605419 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306829 Tmem63a transmembrane protein 63a gene DOID:630 genetic disease ISO RGD:1605419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306829 Tmem63a transmembrane protein 63a gene DOID:9000217 Stomach Neoplasms ISO RGD:1605419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306829 Tmem63a transmembrane protein 63a gene DOID:9000918 Disease Progression ISO RGD:1605419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306829 Tmem63a transmembrane protein 63a gene DOID:9006466 Hypomyelinating Leukodystrophy 19 ISO RGD:1605419 D RGD:7240710 20191225 OMIM 1306829 Tmem63a transmembrane protein 63a gene DOID:9006466 Hypomyelinating Leukodystrophy 19 ISO RGD:1605419 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile PMID:25741868|PMID:31587869|PMID:33785861 1306829 Tmem63a transmembrane protein 63a gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605419 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351733 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1351733 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1351733 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:14330 Parkinson's disease ISO RGD:1351733 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1351733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351733 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1306830 Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351733 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306831 Stim1 stromal interaction molecule 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1306831 Stim1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:7240710 20141015 OMIM 1306831 Stim1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:16199547|PMID:17576681|PMID:19420366|PMID:20876309|PMID:22190180|PMID:23332920|PMID:23851458|PMID:24033266|PMID:24492416|PMID:24570283|PMID:24591628|PMID:24619930|PMID:25044882|PMID:25326555|PMID:25577287|PMID:25640679|PMID:25741868|PMID:25918394|PMID:26184105|PMID:26255678|PMID:26436962|PMID:27066587|PMID:27239559|PMID:28492532|PMID:28624464|PMID:29237733|PMID:31844136|PMID:32098964|PMID:33468626|PMID:33628209|PMID:34498097|PMID:4085141|PMID:9536098 1306831 Stim1 stromal interaction molecule 1 gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:25741868 1306831 Stim1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:7240710 20190315 OMIM 1306831 Stim1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:19420366|PMID:20876309|PMID:23332920|PMID:24033266|PMID:24570283|PMID:25326555|PMID:25577287|PMID:25741868|PMID:28492532 1306831 Stim1 stromal interaction molecule 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1306831 Stim1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:7240710 20130221 OMIM 1306831 Stim1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency PMID:19420366|PMID:20876309|PMID:21427704|PMID:22190180|PMID:24033266|PMID:24621671|PMID:25741868|PMID:25918394|PMID:26560041|PMID:28492532|PMID:31844136|PMID:32098964|PMID:33628209 1306831 Stim1 stromal interaction molecule 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1306831 Stim1 stromal interaction molecule 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315668 D RGD:152995363|PMID:27035326 20220615 RGD protein:increased expression:stomach (human) 1306831 Stim1 stromal interaction molecule 1 gene DOID:10763 hypertension ISO RGD:1315668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 1306831 Stim1 stromal interaction molecule 1 gene DOID:12387 nephrogenic diabetes insipidus IAGP D RGD:150429659|PMID:26574044 20210914 RGD DNA:missense mutation:cds:premature stop codon 1306831 Stim1 stromal interaction molecule 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1315668 D RGD:152995356|PMID:27863410 20220615 RGD human cells in mouse model 1306831 Stim1 stromal interaction molecule 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:esophagus (human) PMID:31843504|REF_RGD_ID:152995393 1306831 Stim1 stromal interaction molecule 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315668 D RGD:152995359|PMID:32184656 20220615 RGD mRNA:increased expression:blood plasma (human) 1306831 Stim1 stromal interaction molecule 1 gene DOID:422 congenital structural myopathy ISO RGD:1315668 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism 1306831 Stim1 stromal interaction molecule 1 gene DOID:630 genetic disease ISO RGD:1315668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306831 Stim1 stromal interaction molecule 1 gene DOID:6364 migraine ISO RGD:1315668 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 1306831 Stim1 stromal interaction molecule 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1306831 Stim1 stromal interaction molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315668 D RGD:152995401|PMID:23211538 20220616 RGD mRNA:increased expression:liver (human) 1306831 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:152995357|PMID:28713917 20220615 RGD human cells in mouse model;associated with lung cancer 1306831 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:152995361|PMID:32165272 20220615 RGD associated with nasopharynx carcinoma; human cells in mouse model 1306831 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1315668 D RGD:152995387|PMID:32483465 20220616 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) 1306831 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1315668 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 1306831 Stim1 stromal interaction molecule 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1315668 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 1306831 Stim1 stromal interaction molecule 1 gene DOID:9002514 Neointima ameliorates IMP D RGD:151893459|PMID:19107116 20220420 RGD 1306831 Stim1 stromal interaction molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315668 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 1306831 Stim1 stromal interaction molecule 1 gene DOID:9253 gastrointestinal stromal tumor ameliorates ISO RGD:1315668 D RGD:152995399|PMID:29957833 20220616 RGD human cells in mouse model 1306831 Stim1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA,protein:increased expression:colorectum (human) PMID:25381814|PMID:25531324|REF_RGD_ID:152995364|REF_RGD_ID:152995402 1306831 Stim1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1315668 D RGD:152995405|PMID:33470690 20220617 RGD DNA:SNPs:intron, 3'utr: (rs3794050,rs7934581,rs3750996) (human) 1306832 Rfc3 replication factor C subunit 3 gene DOID:630 genetic disease ISO RGD:1315670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315674 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1315674 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:12849 autistic disorder ISO RGD:1315674 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:574 peripheral nervous system disease ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:630 genetic disease ISO RGD:1315674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:32202298|PMID:9536098 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:870 neuropathy ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:7240710 20190315 OMIM 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:28969388|PMID:29982295|PMID:32202298|PMID:9536098 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9263 homocystinuria ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1306834 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1306835 Pde6a phosphodiesterase 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306835 Pde6a phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:7240710 20140911 OMIM 1306835 Pde6a phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26321862|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:31872526|PMID:33057649|PMID:33090715|PMID:33946315|PMID:34926197|PMID:35533076|PMID:7493036|PMID:9536098 1306835 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:7493036|PMID:21039428|PMID:27551530 1306835 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8547535|PMID:23701314 20140217 RGD 1306835 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 1306835 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 1306835 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 1306835 Pde6a phosphodiesterase 6A gene DOID:14791 Leber congenital amaurosis ISO RGD:1315676 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1306835 Pde6a phosphodiesterase 6A gene DOID:630 genetic disease ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22128245|PMID:23847139|PMID:25741868|PMID:26321862|PMID:26496393|PMID:26806561|PMID:28041643|PMID:28492532|PMID:29693493|PMID:30619975|PMID:7493036 1306835 Pde6a phosphodiesterase 6A gene DOID:8501 fundus dystrophy ISO RGD:1315676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24339724|PMID:24416769|PMID:25741868|PMID:25775262|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30543658|PMID:30718709|PMID:31872526|PMID:33057649|PMID:35533076|PMID:7493036|PMID:9536098 1306835 Pde6a phosphodiesterase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315676 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306835 Pde6a phosphodiesterase 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306836 Rnf217 ring finger protein 217 gene DOID:2377 multiple sclerosis ISO RGD:1315678 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to 1306836 Rnf217 ring finger protein 217 gene DOID:630 genetic disease ISO RGD:1315678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306837 Dhx37 DEAH-box helicase 37 gene DOID:1059 intellectual disability ISO RGD:1315679 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:26539891|PMID:31256877 1306837 Dhx37 DEAH-box helicase 37 gene DOID:11975 coloboma of optic nerve ISO RGD:1315679 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:31256877 1306837 Dhx37 DEAH-box helicase 37 gene DOID:1826 epilepsy ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:31256877 1306837 Dhx37 DEAH-box helicase 37 gene DOID:630 genetic disease ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306837 Dhx37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:7240710 20200226 OMIM 1306837 Dhx37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies PMID:25741868|PMID:26539891|PMID:28492532|PMID:31256877 1306837 Dhx37 DEAH-box helicase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:26539891|PMID:28492532|PMID:31256877 1306837 Dhx37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:7240710 20200429 OMIM 1306837 Dhx37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC | ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868|PMID:26539891|PMID:28492532|PMID:31287541|PMID:31337883 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315680 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:2717 Bloom syndrome ISO RGD:1315680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:630 genetic disease ISO RGD:1315680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:7240710 20190315 OMIM 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type PMID:25741868|PMID:27008887|PMID:28492532|PMID:31794073 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:7240710 20190315 OMIM 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 PMID:25741868|PMID:26924529|PMID:28492532 1306838 Trip4 thyroid hormone receptor interactor 4 gene DOID:9256 colorectal cancer ISO RGD:1315680 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306839 Plgrkt plasminogen receptor with a C-terminal lysine gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1306839 Plgrkt plasminogen receptor with a C-terminal lysine gene DOID:630 genetic disease ISO RGD:1315681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306841 Ints11 integrator complex subunit 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306841 Ints11 integrator complex subunit 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1306841 Ints11 integrator complex subunit 11 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603031 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1306841 Ints11 integrator complex subunit 11 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603031 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1306841 Ints11 integrator complex subunit 11 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603031 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1306841 Ints11 integrator complex subunit 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306841 Ints11 integrator complex subunit 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306841 Ints11 integrator complex subunit 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306841 Ints11 integrator complex subunit 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603031 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1306841 Ints11 integrator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1603031 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306841 Ints11 integrator complex subunit 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603031 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306841 Ints11 integrator complex subunit 11 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603031 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1306841 Ints11 integrator complex subunit 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1306842 Car7 carbonic anhydrase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1306842 Car7 carbonic anhydrase 7 gene DOID:0110255 cataract 5 multiple types ISO RGD:1315686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1306842 Car7 carbonic anhydrase 7 gene DOID:630 genetic disease ISO RGD:1315686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315689 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:1148 polydactyly ISO RGD:1315689 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1315689 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306844 Retreg2 reticulophagy regulator family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315689 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1315693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:25741868 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:2223 platelet storage pool deficiency ISS RGD:1315694 D RGD:13592920 20180518 MouseDO OMIM:185050 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1315693 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:32565547 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:3753 Hermansky-Pudlak syndrome ISS RGD:1315694 D RGD:13592920 20180518 MouseDO 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:630 genetic disease ISO RGD:1315693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:7240710 20210203 OMIM 1306846 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 PMID:32565547 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315695 D RGD:8554872 20211116 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:1923 disorder of sexual development ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:289 endometriosis ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:21232532 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:5419 schizophrenia ISO RGD:1315695 D RGD:8554872 20211116 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:630 genetic disease ISO RGD:1315695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:8398 osteoarthritis ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:19696165 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:16338060 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:9008046 Neoplasms, Hormone-Dependent ISO RGD:1315695 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 1306847 Akr1c1 aldo-keto reductase family 1, member C1 gene DOID:9970 obesity ISO RGD:1347108 D RGD:1626148|PMID:15494612 20070716 RGD mRNA, protein:increased expression:adipose tissue 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:7240710 20230517 OMIM 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:1793 pancreatic cancer ISO RGD:1315699 D RGD:2317130|PMID:18559563 20100415 RGD DNA:SNP:cd:rs861539 (human) 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:1909 melanoma ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11059748 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:1909 melanoma ISO RGD:1315699 D RGD:1331525|PMID:15118671 19990101 GAD 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:2394 ovarian cancer ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:2513 basal cell carcinoma ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16501254 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:630 genetic disease ISO RGD:1315699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:7240710 20230517 OMIM 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9003566 Mesothelioma ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16564556 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11059748|PMID:16501254 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9008914 Lead Poisoning ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23803535 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1315699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 1306849 Xrcc3 X-ray repair cross complementing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1315699 D RGD:1331525|PMID:15118671 19990101 GAD 1306850 Mrpl1 mitochondrial ribosomal protein L1 gene DOID:630 genetic disease ISO RGD:1315701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306850 Mrpl1 mitochondrial ribosomal protein L1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1306851 Gtf2e1 general transcription factor IIE subunit 1 gene DOID:630 genetic disease ISO RGD:1315703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306851 Gtf2e1 general transcription factor IIE subunit 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315703 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1306851 Gtf2e1 general transcription factor IIE subunit 1 gene DOID:9270 alkaptonuria ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1306852 Clul1 clusterin like 1 gene DOID:12849 autistic disorder ISO RGD:1315705 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306852 Clul1 clusterin like 1 gene DOID:630 genetic disease ISO RGD:1315705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306852 Clul1 clusterin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315705 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306852 Clul1 clusterin like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1306853 Traf6 TNF receptor associated factor 6 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1315706 D RGD:155646134|PMID:27249171 20221108 RGD protein:increased expression:heart (human) 1306853 Traf6 TNF receptor associated factor 6 gene DOID:1059 intellectual disability ISO RGD:1315706 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306853 Traf6 TNF receptor associated factor 6 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1315707 D RGD:155646134|PMID:27249171 20221108 RGD protein:increased expression:heart (human) 1306853 Traf6 TNF receptor associated factor 6 gene DOID:14793 hypohidrotic ectodermal dysplasia ISS RGD:1315707 D RGD:13592920 20180518 MouseDO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 1306853 Traf6 TNF receptor associated factor 6 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1315706 D RGD:150573814|PMID:20164024 20220112 RGD 1306853 Traf6 TNF receptor associated factor 6 gene DOID:3393 coronary artery disease ISO RGD:1315706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 1306853 Traf6 TNF receptor associated factor 6 gene DOID:630 genetic disease ISO RGD:1315706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306853 Traf6 TNF receptor associated factor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1315706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1306853 Traf6 TNF receptor associated factor 6 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:151347179|PMID:27538408 20220118 RGD 1306854 Mlf1 myeloid leukemia factor 1 gene DOID:0080074 neural tube defect ISO RGD:1315708 D RGD:1600902|PMID:15659732 20070330 RGD 1306854 Mlf1 myeloid leukemia factor 1 gene DOID:0080600 COVID-19 ISO RGD:1315708 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306854 Mlf1 myeloid leukemia factor 1 gene DOID:630 genetic disease ISO RGD:1315708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306854 Mlf1 myeloid leukemia factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1315708 D RGD:1600902|PMID:15659732 20070330 RGD 1306854 Mlf1 myeloid leukemia factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1306854 Mlf1 myeloid leukemia factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1315708 D RGD:1600902|PMID:15659732 20070330 RGD 1306856 Cdh7 cadherin 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315712 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1306856 Cdh7 cadherin 7 gene DOID:630 genetic disease ISO RGD:1315712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306856 Cdh7 cadherin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315712 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306856 Cdh7 cadherin 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 1306858 Fstl5 follistatin-like 5 gene DOID:3312 bipolar disorder ISO RGD:1315715 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1306858 Fstl5 follistatin-like 5 gene DOID:630 genetic disease ISO RGD:1315715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:0080600 COVID-19 ISO RGD:1315719 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:1059 intellectual disability ISO RGD:1315719 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:12712 nephronophthisis ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:630 genetic disease ISO RGD:1315719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1315719 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1306860 Tbc1d2 TBC1 domain family, member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315719 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:0060857 septooptic dysplasia ISO RGD:1603624 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:1059 intellectual disability ISO RGD:1603624 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:2234 focal epilepsy ISO RGD:1603624 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1603624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:9002189 High Myopia ISO RGD:1603624 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603624 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1306861 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:9008582 Developmental Disease ISO RGD:1603624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1306862 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:0050777 Joubert syndrome ISO RGD:1602698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306862 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1602698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306862 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:7240710 20210512 OMIM 1306862 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome PMID:33242396 1306863 Cd34 CD34 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1306863 Cd34 CD34 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1306863 Cd34 CD34 molecule gene DOID:12849 autistic disorder ISO RGD:1315723 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306863 Cd34 CD34 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1315723 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306863 Cd34 CD34 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1315723 D RGD:151665104|PMID:32626543 20220310 RGD 1306863 Cd34 CD34 molecule gene DOID:630 genetic disease ISO RGD:1315723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306863 Cd34 CD34 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1315723 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306863 Cd34 CD34 molecule gene DOID:8947 diabetic retinopathy IEP D RGD:41410819|PMID:31759996 20210216 RGD mRNA, protein:increased expression:retina 1306863 Cd34 CD34 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1306863 Cd34 CD34 molecule gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1315723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 1306863 Cd34 CD34 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315723 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306864 Snx24 sorting nexin 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306864 Snx24 sorting nexin 24 gene DOID:630 genetic disease ISO RGD:1315725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306864 Snx24 sorting nexin 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315725 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306864 Snx24 sorting nexin 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1306864 Snx24 sorting nexin 24 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1315725 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 1306867 Rab23 RAB23, member RAS oncogene family gene DOID:0060234 Carpenter syndrome ISO RGD:1315728 D RGD:11554173 20190205 CTD CTD Direct Evidence: marker/mechanism 1306867 Rab23 RAB23, member RAS oncogene family gene DOID:0060234 Carpenter syndrome ISO RGD:1315728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome PMID:16199547|PMID:17503333|PMID:17576681|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25168863|PMID:25741868|PMID:28492532|PMID:9536098 1306867 Rab23 RAB23, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315728 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17503333|PMID:17576681|PMID:21412941|PMID:24458945|PMID:25741868|PMID:28492532|PMID:9536098 1306867 Rab23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:7240710 20130221 OMIM 1306867 Rab23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 PMID:17503333|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25741868|PMID:28492532 1306867 Rab23 RAB23, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315728 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1306868 Brpf3 bromodomain and PHD finger containing, 3 gene DOID:0050553 JMP syndrome ISO RGD:1315730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1306868 Brpf3 bromodomain and PHD finger containing, 3 gene DOID:630 genetic disease ISO RGD:1315730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306869 Il36a interleukin 36, alpha gene DOID:289 endometriosis ISO RGD:1315732 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 1306869 Il36a interleukin 36, alpha gene DOID:630 genetic disease ISO RGD:1315732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306870 Troap trophinin associated protein gene DOID:0080600 COVID-19 ISO RGD:1315734 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306870 Troap trophinin associated protein gene DOID:630 genetic disease ISO RGD:1315734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306870 Troap trophinin associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1315734 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306871 Rhobtb1 Rho-related BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1315735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306871 Rhobtb1 Rho-related BTB domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1306872 Dock5 dedicator of cytokinesis 5 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1315737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 1306872 Dock5 dedicator of cytokinesis 5 gene DOID:10283 prostate cancer ISO RGD:1315737 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1306872 Dock5 dedicator of cytokinesis 5 gene DOID:630 genetic disease ISO RGD:1315737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306873 Tecpr1 tectonin beta-propeller repeat containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601877 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306873 Tecpr1 tectonin beta-propeller repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306873 Tecpr1 tectonin beta-propeller repeat containing 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601877 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1306874 Fsip1 fibrous sheath interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1315740 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306874 Fsip1 fibrous sheath interacting protein 1 gene DOID:630 genetic disease ISO RGD:1315740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306874 Fsip1 fibrous sheath interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1315740 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306875 Arl4d ADP-ribosylation factor like GTPase 4D gene DOID:0080600 COVID-19 ISO RGD:1315741 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306875 Arl4d ADP-ribosylation factor like GTPase 4D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315741 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 1306875 Arl4d ADP-ribosylation factor like GTPase 4D gene DOID:630 genetic disease ISO RGD:1315741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:2717 Bloom syndrome ISO RGD:1315743 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:630 genetic disease ISO RGD:1315743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:674 cleft palate ISO RGD:1315743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:7240710 20190424 OMIM 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination PMID:25741868|PMID:28492532|PMID:30031689 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:9256 colorectal cancer ISO RGD:1315743 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306876 Mthfs methenyltetrahydrofolate synthetase gene DOID:9296 cleft lip ISO RGD:1315743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 1306877 Asmtl acetylserotonin O-methyltransferase-like gene DOID:12849 autistic disorder ISO RGD:1315744 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306877 Asmtl acetylserotonin O-methyltransferase-like gene DOID:13938 amenorrhea ISO RGD:1315744 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1306877 Asmtl acetylserotonin O-methyltransferase-like gene DOID:2661 myoepithelioma ISO RGD:1315744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1306877 Asmtl acetylserotonin O-methyltransferase-like gene DOID:9119 acute myeloid leukemia ISO RGD:1315744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1306878 Thumpd2 THUMP domain containing 2 gene DOID:3883 Lynch syndrome ISO RGD:1315745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1306878 Thumpd2 THUMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1315745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306878 Thumpd2 THUMP domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315745 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306879 Vps26c VPS26 endosomal protein sorting factor C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1306879 Vps26c VPS26 endosomal protein sorting factor C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315747 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1306879 Vps26c VPS26 endosomal protein sorting factor C gene DOID:1826 epilepsy ISO RGD:1315747 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1306879 Vps26c VPS26 endosomal protein sorting factor C gene DOID:630 genetic disease ISO RGD:1315747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306880 Rimkla ribosomal modification protein rimK-like family member A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606921 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306880 Rimkla ribosomal modification protein rimK-like family member A gene DOID:630 genetic disease ISO RGD:1606921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306881 Cdr2l cerebellar degeneration-related protein 2-like gene DOID:630 genetic disease ISO RGD:1602123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:12336 male infertility ISS RGD:1315752 D RGD:13592920 20180518 MouseDO 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:630 genetic disease ISO RGD:1315751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1315752 D RGD:11565123|PMID:16651637 20161121 RGD 1306882 Csnk2a2 casein kinase 2 alpha 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1315751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1306883 Frrs1 ferric-chelate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1604148 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306883 Frrs1 ferric-chelate reductase 1 gene DOID:630 genetic disease ISO RGD:1604148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306884 Grap GRB2-related adaptor protein gene DOID:0050777 Joubert syndrome ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306884 Grap GRB2-related adaptor protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1353606 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1306884 Grap GRB2-related adaptor protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1306884 Grap GRB2-related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:7240710 20190626 OMIM 1306884 Grap GRB2-related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 114 PMID:25741868|PMID:30610177 1306884 Grap GRB2-related adaptor protein gene DOID:12849 autistic disorder ISO RGD:1353606 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306884 Grap GRB2-related adaptor protein gene DOID:630 genetic disease ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306884 Grap GRB2-related adaptor protein gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1306885 Fcrl2 Fc receptor-like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323109 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306885 Fcrl2 Fc receptor-like 2 gene DOID:630 genetic disease ISO RGD:1323109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306885 Fcrl2 Fc receptor-like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323109 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306886 Actl9 actin-like 9 gene DOID:0112279 spermatogenic failure 53 ISO RGD:1602048 D RGD:7240710 20210421 OMIM 1306886 Actl9 actin-like 9 gene DOID:0112279 spermatogenic failure 53 ISO RGD:1602048 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 53 PMID:33626338 1306886 Actl9 actin-like 9 gene DOID:12849 autistic disorder ISO RGD:1602048 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306886 Actl9 actin-like 9 gene DOID:3310 atopic dermatitis ISO RGD:1602048 D RGD:11554173 20170627 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 1306886 Actl9 actin-like 9 gene DOID:630 genetic disease ISO RGD:1602048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306887 Fbxl5 F-box and leucine-rich repeat protein 5 gene DOID:0050777 Joubert syndrome ISO RGD:1315757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306887 Fbxl5 F-box and leucine-rich repeat protein 5 gene DOID:10283 prostate cancer ISO RGD:1315757 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1306887 Fbxl5 F-box and leucine-rich repeat protein 5 gene DOID:630 genetic disease ISO RGD:1315757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306888 Nfe2 nuclear factor, erythroid 2 gene DOID:630 genetic disease ISO RGD:1315759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306888 Nfe2 nuclear factor, erythroid 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315759 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306889 Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 gene DOID:12712 nephronophthisis ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532|PMID:30609407 1306889 Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 gene DOID:630 genetic disease ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306889 Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18372903|PMID:23967108 1306890 Prox1 prospero homeobox 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1315764 D RGD:13592920 20180518 MouseDO 1306890 Prox1 prospero homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315763 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306890 Prox1 prospero homeobox 1 gene DOID:1824 status epilepticus IEP D RGD:5133273|PMID:17042797 20110613 RGD protein:increased expression:dentate gyrus hilus 1306890 Prox1 prospero homeobox 1 gene DOID:630 genetic disease ISO RGD:1315763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306890 Prox1 prospero homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17415710 1306890 Prox1 prospero homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315763 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306890 Prox1 prospero homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 1306890 Prox1 prospero homeobox 1 gene DOID:9970 obesity ISS RGD:1315764 D RGD:13592920 20180518 MouseDO OMIM:601665 1306891 Rbm4 RNA binding motif protein 4 gene DOID:1059 intellectual disability ISO RGD:1315765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306891 Rbm4 RNA binding motif protein 4 gene DOID:2661 myoepithelioma ISO RGD:1315765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1306891 Rbm4 RNA binding motif protein 4 gene DOID:630 genetic disease ISO RGD:1315765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306891 Rbm4 RNA binding motif protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315765 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1306891 Rbm4 RNA binding motif protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1306892 Zfp580 zinc finger protein 580 gene DOID:630 genetic disease ISO RGD:1315767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306894 Chtf8 chromosome transmission fidelity factor 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1306894 Chtf8 chromosome transmission fidelity factor 8 gene DOID:630 genetic disease ISO RGD:1606282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306897 Nek8 NIMA-related kinase 8 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:1552572 D RGD:13592920 20180518 MouseDO OMIM:263200 1306897 Nek8 NIMA-related kinase 8 gene DOID:0111120 nephronophthisis 9 IAGP D RGD:40924667|PMID:22899815 20210304 RGD compared to control Lewis 1306897 Nek8 NIMA-related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:7240710 20140911 OMIM 1306897 Nek8 NIMA-related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 9 PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26697755|PMID:26967905|PMID:28492532|PMID:9536098 1306897 Nek8 NIMA-related kinase 8 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:23418306|PMID:25741868|PMID:28492532 1306897 Nek8 NIMA-related kinase 8 gene DOID:557 kidney disease ISO RGD:1315774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18199800 1306897 Nek8 NIMA-related kinase 8 gene DOID:557 kidney disease ISO RGD:1315774 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1306897 Nek8 NIMA-related kinase 8 gene DOID:630 genetic disease ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306897 Nek8 NIMA-related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:7240710 20140911 OMIM 1306897 Nek8 NIMA-related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 PMID:19550299|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532 1306897 Nek8 NIMA-related kinase 8 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315774 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:7240710 20170510 OMIM 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50 PMID:25701870|PMID:25741868 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:2717 Bloom syndrome ISO RGD:1604794 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:5419 schizophrenia ISO RGD:1604794 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:630 genetic disease ISO RGD:1604794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306898 Edc3 enhancer of mRNA decapping 3 gene DOID:9256 colorectal cancer ISO RGD:1604794 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306899 Fyttd1 forty-two-three domain containing 1 gene DOID:630 genetic disease ISO RGD:1345293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306900 Atp6v0d2 ATPase H+ transporting V0 subunit D2 gene DOID:5119 ovarian cyst ISO RGD:1315777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1306900 Atp6v0d2 ATPase H+ transporting V0 subunit D2 gene DOID:630 genetic disease ISO RGD:1315777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306900 Atp6v0d2 ATPase H+ transporting V0 subunit D2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 1306902 Psmd7 proteasome 26S subunit, non-ATPase 7 gene DOID:630 genetic disease ISO RGD:1315780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306904 Pcgf6 polycomb group ring finger 6 gene DOID:630 genetic disease ISO RGD:1353848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306905 Hist1h4m histone cluster 1, H4m gene DOID:9004590 Acute Liver Failure ISO RGD:1315697 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 1306906 Rpf2 ribosome production factor 2 homolog gene DOID:630 genetic disease ISO RGD:1315787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306908 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1606284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 1306908 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:630 genetic disease ISO RGD:1606284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306908 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:9008539 Perinatal Death ISO RGD:1606284 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 1306909 Marveld2 MARVEL domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345417 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 1306909 Marveld2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:7240710 20130221 OMIM 1306909 Marveld2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:23767834|PMID:23979167|PMID:24033266|PMID:25652404|PMID:25666562|PMID:25741868|PMID:25788563|PMID:25885414|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31850270|PMID:32747562|PMID:33597575 1306909 Marveld2 MARVEL domain containing 2 gene DOID:630 genetic disease ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 1306909 Marveld2 MARVEL domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345417 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306909 Marveld2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17186462|PMID:18084694|PMID:24033266|PMID:25741868|PMID:30311386 1306909 Marveld2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:24033266|PMID:25666562|PMID:25741868|PMID:28492532|PMID:30311386 1306909 Marveld2 MARVEL domain containing 2 gene DOID:9008681 Deafness ISO RGD:1345417 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1306911 Fitm1 fat storage-inducing transmembrane protein 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1603355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1306911 Fitm1 fat storage-inducing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1603355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306911 Fitm1 fat storage-inducing transmembrane protein 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1603355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1306911 Fitm1 fat storage-inducing transmembrane protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603355 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306912 Kyat1 kynurenine aminotransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1306912 Kyat1 kynurenine aminotransferase 1 gene DOID:305 carcinoma ISO RGD:1315794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 1306912 Kyat1 kynurenine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1315794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306912 Kyat1 kynurenine aminotransferase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1315794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 1306912 Kyat1 kynurenine aminotransferase 1 gene DOID:9002457 Experimental Arthritis IMP D RGD:2306289|PMID:16984225 20090416 RGD 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1315796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20683989 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1315796 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:7240710 20140911 OMIM 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:33798445|PMID:9536098 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315796 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:630 genetic disease ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:905 Zellweger syndrome ISO RGD:1315796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10051604 1306913 Pex19 peroxisomal biogenesis factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315796 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306914 Lgals12 galectin 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1306914 Lgals12 galectin 12 gene DOID:1059 intellectual disability ISO RGD:1315798 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306914 Lgals12 galectin 12 gene DOID:630 genetic disease ISO RGD:1315798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1315800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:1059 intellectual disability ISO RGD:1315800 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1315800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:5812 MHC class II deficiency ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1315800 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 PMID:25741868 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:7240710 20200722 OMIM 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder PMID:25741868|PMID:26365382|PMID:28492532|PMID:30679821 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315800 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9003816 Macrocephaly ISO RGD:1315800 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315800 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306915 Usp7 ubiquitin specific peptidase 7 gene DOID:9005603 Muscle Hypotonia ISO RGD:1315800 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 1306917 Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0050553 JMP syndrome ISO RGD:1315803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1306917 Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315803 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1306917 Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:7240710 20170510 OMIM 1306917 Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7 PMID:24385928|PMID:25741868|PMID:28492532 1306917 Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1315803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306918 Cops7b COP9 signalosome subunit 7B gene DOID:0060476 Perlman syndrome ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1306918 Cops7b COP9 signalosome subunit 7B gene DOID:0080006 bone development disease ISO RGD:1315805 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1306918 Cops7b COP9 signalosome subunit 7B gene DOID:0110991 Joubert syndrome 22 ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1306918 Cops7b COP9 signalosome subunit 7B gene DOID:630 genetic disease ISO RGD:1315805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:7240710 20130221 OMIM 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:16990542 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:630 genetic disease ISO RGD:1315807 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:674 cleft palate ISO RGD:1315807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16990542 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315807 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315807 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:9296 cleft lip ISO RGD:1315807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16990542 1306919 Sumo1 small ubiquitin-like modifier 1 gene DOID:9296 cleft lip ISO RGD:1315807 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 1306920 Jade1 jade family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1315809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306922 Aebp1 AE binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1306922 Aebp1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:7240710 20190315 OMIM 1306922 Aebp1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 PMID:16199547|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29606302|PMID:30548383 1306922 Aebp1 AE binding protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315812 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:30759870 1306922 Aebp1 AE binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315812 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306922 Aebp1 AE binding protein 1 gene DOID:630 genetic disease ISO RGD:1315812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306922 Aebp1 AE binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1315812 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1306923 Slc5a4 solute carrier family 5 member 4 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1315814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 1306923 Slc5a4 solute carrier family 5 member 4 gene DOID:630 genetic disease ISO RGD:1315814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306923 Slc5a4 solute carrier family 5 member 4 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1315814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 1306924 Tubgcp4 tubulin, gamma complex associated protein 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1603663 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1306924 Tubgcp4 tubulin, gamma complex associated protein 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:7240710 20150722 OMIM 1306924 Tubgcp4 tubulin, gamma complex associated protein 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:16199547|PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 1306924 Tubgcp4 tubulin, gamma complex associated protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1603663 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1306924 Tubgcp4 tubulin, gamma complex associated protein 4 gene DOID:630 genetic disease ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306924 Tubgcp4 tubulin, gamma complex associated protein 4 gene DOID:9256 colorectal cancer ISO RGD:1603663 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1350228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:25674159|PMID:27081566|PMID:28492532 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:7240710 20181219 OMIM 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1350228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12030902|PMID:12446987|PMID:12919139|PMID:14755465|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350228 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1350228 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1350228 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:630 genetic disease ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:65 connective tissue disease ISO RGD:1350228 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 1306925 Trappc2 trafficking protein particle complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350228 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306926 Faap100 FA core complex associated protein 100 gene DOID:630 genetic disease ISO RGD:1604593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306927 Atp13a4 ATPase 13A4 gene DOID:3529 central core disease ISO RGD:1346317 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 1306927 Atp13a4 ATPase 13A4 gene DOID:5419 schizophrenia ISO RGD:1346317 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306927 Atp13a4 ATPase 13A4 gene DOID:630 genetic disease ISO RGD:1346317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306929 Dusp18 dual specificity phosphatase 18 gene DOID:630 genetic disease ISO RGD:1315821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306930 Dynlrb2 dynein light chain roadblock-type 2 gene DOID:0110256 cataract 21 multiple types ISO RGD:1315823 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 1306930 Dynlrb2 dynein light chain roadblock-type 2 gene DOID:630 genetic disease ISO RGD:1315823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306930 Dynlrb2 dynein light chain roadblock-type 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1315823 D RGD:13208527|PMID:11750132 20170809 RGD 1306931 Slc30a5 solute carrier family 30 member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315825 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:33547425 1306931 Slc30a5 solute carrier family 30 member 5 gene DOID:630 genetic disease ISO RGD:1315825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306931 Slc30a5 solute carrier family 30 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315825 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306931 Slc30a5 solute carrier family 30 member 5 gene DOID:9007001 Bradycardia ISO RGD:1315826 D RGD:1580628|PMID:12095919 19990101 RGD 1306932 Mblac1 metallo-beta-lactamase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602638 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306932 Mblac1 metallo-beta-lactamase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1315828 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23806086|PMID:23849778|PMID:24088041|PMID:28492532 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0050144 Kartagener syndrome ISS RGD:1315829 D RGD:13592920 20180518 MouseDO 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0050545 visceral heterotaxy ISS RGD:1315829 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1315828 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:7240710 20140911 OMIM 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 23 PMID:16199547|PMID:17576681|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:24203976|PMID:25741868|PMID:27637300|PMID:28492532|PMID:31213628|PMID:31650533|PMID:33577779|PMID:9536098 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:12336 male infertility ISO RGD:1315828 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Male infertility 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306933 Odad2 outer dynein arm docking complex subunit 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:25741868|PMID:27637300|PMID:28492532|PMID:33577779 1306934 Bcl9 BCL9, transcription coactivator gene DOID:0060041 autism spectrum disorder ISO RGD:1315830 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1306934 Bcl9 BCL9, transcription coactivator gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1315830 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 1306934 Bcl9 BCL9, transcription coactivator gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1315830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 1306934 Bcl9 BCL9, transcription coactivator gene DOID:0110231 cataract 1 multiple types ISO RGD:1315830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 1306934 Bcl9 BCL9, transcription coactivator gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1315830 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1306934 Bcl9 BCL9, transcription coactivator gene DOID:1540 parathyroid carcinoma ISO RGD:1315830 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306934 Bcl9 BCL9, transcription coactivator gene DOID:5419 schizophrenia ISO RGD:1315830 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306934 Bcl9 BCL9, transcription coactivator gene DOID:630 genetic disease ISO RGD:1315830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306934 Bcl9 BCL9, transcription coactivator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22024689 1306934 Bcl9 BCL9, transcription coactivator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315830 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306934 Bcl9 BCL9, transcription coactivator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315830 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306935 Polr2c RNA polymerase II subunit C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306935 Polr2c RNA polymerase II subunit C gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1315832 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1306935 Polr2c RNA polymerase II subunit C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306935 Polr2c RNA polymerase II subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1306935 Polr2c RNA polymerase II subunit C gene DOID:5223 infertility ISO RGD:1315832 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Infertility 1306935 Polr2c RNA polymerase II subunit C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315832 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1306935 Polr2c RNA polymerase II subunit C gene DOID:630 genetic disease ISO RGD:1315832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306936 Malsu1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315834 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306936 Malsu1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:630 genetic disease ISO RGD:1315834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306937 Cpxm1 carboxypeptidase X (M14 family), member 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1306937 Cpxm1 carboxypeptidase X (M14 family), member 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1306937 Cpxm1 carboxypeptidase X (M14 family), member 1 gene DOID:630 genetic disease ISO RGD:1315836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306938 Thsd7b thrombospondin type 1 domain containing 7B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1606777 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 1306938 Thsd7b thrombospondin type 1 domain containing 7B gene DOID:630 genetic disease ISO RGD:1606777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306939 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:7240710 20170308 OMIM 1306939 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 104 PMID:24033266|PMID:24958875|PMID:25741868|PMID:28492532 1306939 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:7240710 20220406 OMIM 1306939 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 21 PMID:10764236|PMID:25741868|PMID:28492532|PMID:32631815 1306939 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:630 genetic disease ISO RGD:1315839 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1306940 Mybl1 MYB proto-oncogene like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1306940 Mybl1 MYB proto-oncogene like 1 gene DOID:0080600 COVID-19 ISO RGD:1315840 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306940 Mybl1 MYB proto-oncogene like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1306940 Mybl1 MYB proto-oncogene like 1 gene DOID:3070 high grade glioma ISO RGD:1315840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 1306940 Mybl1 MYB proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1315840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306941 RGD1306941 similar to CG31122-PA gene DOID:630 genetic disease ISO RGD:1603539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306941 RGD1306941 similar to CG31122-PA gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603539 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306941 RGD1306941 similar to CG31122-PA gene DOID:9005629 Combined Oxidative Phosphorylation Deficiency 53 ISO RGD:1603539 D RGD:7240710 20210721 OMIM 1306941 RGD1306941 similar to CG31122-PA gene DOID:9005629 Combined Oxidative Phosphorylation Deficiency 53 ISO RGD:1603539 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 PMID:25741868|PMID:33945503|PMID:34038740 1306942 Tdrd9 tudor domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1315843 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306942 Tdrd9 tudor domain containing 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1306942 Tdrd9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:7240710 20190410 OMIM 1306942 Tdrd9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 30 PMID:25741868 1306942 Tdrd9 tudor domain containing 9 gene DOID:14227 azoospermia ISO RGD:1315843 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1306942 Tdrd9 tudor domain containing 9 gene DOID:630 genetic disease ISO RGD:1315843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1306943 Trim55 tripartite motif-containing 55 gene DOID:630 genetic disease ISO RGD:1603290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306944 Rad51d RAD51 paralog D gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:21822267|PMID:25741868|PMID:26261251|PMID:26467025|PMID:28492532|PMID:29371908|PMID:31159747 1306944 Rad51d RAD51 paralog D gene DOID:10534 stomach cancer ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10749867|PMID:14704354|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26046366|PMID:26057125|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:27093186|PMID:27978560|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29020732|PMID:29255180|PMID:29348823|PMID:29360550|PMID:29409816|PMID:29566657|PMID:30103829|PMID:30111881|PMID:30322717|PMID:31300551|PMID:31843900|PMID:32029870|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33504652|PMID:34838098|PMID:36988593 1306944 Rad51d RAD51 paralog D gene DOID:1520 colon carcinoma ISO RGD:1315846 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:28492532 1306944 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746 1306944 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746|PMID:32885271 1306944 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32566746|PMID:32885271|PMID:33471991|PMID:34200360 1306944 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34200360 1306944 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34200360 1306944 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:33630411|PMID:34117267|PMID:34200360|PMID:34606182|PMID:35565380|PMID:35710434|PMID:36988593 1306944 Rad51d RAD51 paralog D gene DOID:3459 breast carcinoma ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555 1306944 Rad51d RAD51 paralog D gene DOID:4001 ovarian carcinoma ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555|PMID:32107557 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29625052|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:34200360|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34923718|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1315846 D RGD:7240710 20190502 OMIM 1306944 Rad51d RAD51 paralog D gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822267 1306944 Rad51d RAD51 paralog D gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10749867|PMID:14704354|PMID:16199547|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:26822949|PMID:27083178|PMID:27153395|PMID:27273131|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28874143|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29348823|PMID:29409816|PMID:29566657|PMID:30111881|PMID:30165555|PMID:30927251|PMID:30980208|PMID:31300551|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33471991|PMID:36988593 1306944 Rad51d RAD51 paralog D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315846 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306944 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 1306944 Rad51d RAD51 paralog D gene DOID:9008165 Chromosome Deletion ISO RGD:1315846 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27924006 1306944 Rad51d RAD51 paralog D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:21822267|PMID:25741868|PMID:28492532|PMID:32107557 1306944 Rad51d RAD51 paralog D gene DOID:9256 colorectal cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:20665887|PMID:21822267|PMID:22986143|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25741868|PMID:26057125|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:28423363|PMID:28492532|PMID:29409816|PMID:32295079|PMID:32359370|PMID:36988593 1306945 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:7240710 20190315 OMIM 1306945 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:24033266|PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 1306945 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1353967 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1306945 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:10908 hydrocephalus ISS RGD:1551274 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1306945 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1353967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 1306945 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1345395 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1345395 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:25741868|PMID:28492532 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome PMID:12389028|PMID:15645691|PMID:2001103|PMID:25741868|PMID:27666369|PMID:7538982|PMID:9475091 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:7240710 20140911 OMIM 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:16199547|PMID:17576681|PMID:23453667|PMID:24084573|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29273094|PMID:29302074|PMID:29791932|PMID:31130284|PMID:31428121|PMID:33290285|PMID:9536098 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:10907 microcephaly ISO RGD:1345395 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:23453667|PMID:25741868|PMID:27666369|PMID:28492532|PMID:31130284|PMID:7538982|PMID:9475091|PMID:9536098 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1345395 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868 1306946 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345395 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1306947 Wdr83 WD repeat domain 83 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1306947 Wdr83 WD repeat domain 83 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1306947 Wdr83 WD repeat domain 83 gene DOID:0111254 glutaric acidemia I ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1306947 Wdr83 WD repeat domain 83 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601942 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 1306947 Wdr83 WD repeat domain 83 gene DOID:3413 alpha-mannosidosis ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 1306947 Wdr83 WD repeat domain 83 gene DOID:630 genetic disease ISO RGD:1601942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306948 Copz2 COPI coat complex subunit zeta 2 gene DOID:630 genetic disease ISO RGD:1315851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306949 Insm2 INSM transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1315853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306949 Insm2 INSM transcriptional repressor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306950 Nisch nischarin gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1315855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1306950 Nisch nischarin gene DOID:10754 otitis media ISS RGD:1616802 D RGD:13592920 20180518 MouseDO OMIM:166760 1306950 Nisch nischarin gene DOID:10763 hypertension IMP D RGD:1581128|PMID:12021582 20150324 RGD 1306950 Nisch nischarin gene DOID:6000 congestive heart failure ISO RGD:1315855 D RGD:1581128|PMID:12021582 20150324 RGD 1306950 Nisch nischarin gene DOID:630 genetic disease ISO RGD:1315855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306950 Nisch nischarin gene DOID:9006024 Hypotension ISO RGD:1315855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11486246|PMID:22613216 1306950 Nisch nischarin gene DOID:9007001 Bradycardia ISO RGD:1315855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11486246 1306950 Nisch nischarin gene DOID:9008939 Breast Neoplasms ISO RGD:1315855 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29912916 1306951 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1315856 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1306951 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:7240710 20140911 OMIM 1306951 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:16199547|PMID:17576681|PMID:21596365|PMID:22786748|PMID:25330735|PMID:25741868|PMID:28128455|PMID:28492532|PMID:28518168|PMID:29023266|PMID:29255178|PMID:30010917|PMID:30511102|PMID:30719684|PMID:30987377|PMID:31066130|PMID:31130284|PMID:32461654|PMID:33995370|PMID:9536098 1306951 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:630 genetic disease ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 1306951 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315856 D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 1306952 Cmbl carboxymethylenebutenolidase homolog gene DOID:630 genetic disease ISO RGD:1606460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306953 Oxct2b 3-oxoacid CoA transferase 2B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315859 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1306953 Oxct2b 3-oxoacid CoA transferase 2B gene DOID:630 genetic disease ISO RGD:1315859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:0050545 visceral heterotaxy ISO RGD:1315861 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1315861 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:7240710 20140911 OMIM 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 26 PMID:24094744|PMID:25741868|PMID:28492532 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:758 situs inversus ISO RGD:1315861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1306954 Cfap298 cilia and flagella associated protein 298 gene DOID:9005698 ZTTK Syndrome ISO RGD:1315861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1306955 Gkap1 G kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1315863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:1059 intellectual disability ISO RGD:1315865 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:3310 atopic dermatitis ISO RGD:1315865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:5374 pilomatrixoma ISO RGD:1315865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1315865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1306956 Ovol1 ovo like transcriptional repressor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1306957 Sgsm2 small G protein signaling modulator 2 gene DOID:10283 prostate cancer ISO RGD:1315867 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1306957 Sgsm2 small G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1315867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306957 Sgsm2 small G protein signaling modulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315867 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306958 Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha gene DOID:0060224 atrial fibrillation ISO RGD:1315869 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1306958 Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha gene DOID:630 genetic disease ISO RGD:1315869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306958 Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315869 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1306959 Akip1 A-kinase interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1315871 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1306959 Akip1 A-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1315871 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:10283 prostate cancer ISO RGD:1315873 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1306961 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:630 genetic disease ISO RGD:1315873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306962 Slc18b1 solute carrier family 18 member B1 gene DOID:630 genetic disease ISO RGD:1315874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306963 Mrps23 mitochondrial ribosomal protein S23 gene DOID:0050777 Joubert syndrome ISO RGD:1315875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1306963 Mrps23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:7240710 20200812 OMIM 1306963 Mrps23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 PMID:25741868|PMID:26741492 1306963 Mrps23 mitochondrial ribosomal protein S23 gene DOID:1059 intellectual disability ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1306963 Mrps23 mitochondrial ribosomal protein S23 gene DOID:630 genetic disease ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26741492|PMID:28492532 1306963 Mrps23 mitochondrial ribosomal protein S23 gene DOID:9008939 Breast Neoplasms ISO RGD:1315875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 1306964 Piwil2 piwi-like RNA-mediated gene silencing 2 gene DOID:10608 celiac disease ISO RGD:1315877 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1306964 Piwil2 piwi-like RNA-mediated gene silencing 2 gene DOID:630 genetic disease ISO RGD:1315877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306964 Piwil2 piwi-like RNA-mediated gene silencing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315879 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:7240710 20140730 OMIM 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:10953198|PMID:11971870|PMID:12134079|PMID:15207259|PMID:15349861|PMID:15728307|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31319225|PMID:32005694|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:1059 intellectual disability ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11727201|PMID:11971870|PMID:12134079|PMID:12673792|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25677497|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:10953198|PMID:11971870|PMID:12134079|PMID:15349861|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20127975|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22589734|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30394532|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31406620|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:8001159|PMID:9536098|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:1826 epilepsy ISO RGD:1315879 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:20157158|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:630 genetic disease ISO RGD:1315879 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971870|PMID:12134079|PMID:15728307|PMID:17576681|PMID:18414213|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:30078242|PMID:30264640|PMID:9536098|PMID:9662406 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532 1306965 Cln5 CLN5, intracellular trafficking protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315879 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306966 Susd1 sushi domain containing 1 gene DOID:630 genetic disease ISO RGD:1315881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306967 Krba1 KRAB-A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306968 Lyzl6 lysozyme-like 6 gene DOID:630 genetic disease ISO RGD:1342780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306969 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315884 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1306969 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:0080915 histiocytic sarcoma ISO RGD:1315884 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:25741868 1306969 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868|PMID:28492532 1306969 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306969 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:9000954 Parakeratosis ISO RGD:12434198 D RGD:9068941 20210604 OMIA Nasal parakeratosis PMID:12662268|PMID:12895224|PMID:24098150|PMID:29423952|PMID:32119674 1306970 Ssc4d scavenger receptor cysteine rich family member with 4 domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315886 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1306970 Ssc4d scavenger receptor cysteine rich family member with 4 domains gene DOID:630 genetic disease ISO RGD:1315886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306970 Ssc4d scavenger receptor cysteine rich family member with 4 domains gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1315886 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1306973 Btn2a2 butyrophilin, subfamily 2, member A2 gene DOID:630 genetic disease ISO RGD:1315891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306974 Rtp4 receptor (chemosensory) transporter protein 4 gene DOID:5419 schizophrenia ISO RGD:1605965 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1306974 Rtp4 receptor (chemosensory) transporter protein 4 gene DOID:630 genetic disease ISO RGD:1605965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306974 Rtp4 receptor (chemosensory) transporter protein 4 gene DOID:9001488 Human Influenza ISO RGD:1605965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1306975 Btbd9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17637780 1306975 Btbd9 BTB domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1315893 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1306975 Btbd9 BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1315893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306977 Ptov1 PTOV1, extended AT-hook containing adaptor protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1306977 Ptov1 PTOV1, extended AT-hook containing adaptor protein gene DOID:2843 long QT syndrome ISO RGD:1315896 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1306977 Ptov1 PTOV1, extended AT-hook containing adaptor protein gene DOID:630 genetic disease ISO RGD:1315896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306977 Ptov1 PTOV1, extended AT-hook containing adaptor protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306977 Ptov1 PTOV1, extended AT-hook containing adaptor protein gene DOID:9000918 Disease Progression ISO RGD:1315896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1306978 C1qtnf7 C1q and TNF related 7 gene DOID:630 genetic disease ISO RGD:1315898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306980 Piwil1 piwi-like RNA-mediated gene silencing 1 gene DOID:303 substance-related disorder ISO RGD:1315902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1306980 Piwil1 piwi-like RNA-mediated gene silencing 1 gene DOID:630 genetic disease ISO RGD:1315902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0060673 Peters anomaly ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:21931569|PMID:26893459|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0060732 chromosome 9p deletion syndrome ISS RGD:1616422 D RGD:13592920 20180518 MouseDO OMIM:158170 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0080205 CAKUT ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:21931569|PMID:26893459|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0090001 Fraser syndrome ISS RGD:1616422 D RGD:13592920 20181122 MouseDO OMIM:219000 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:11554181|PMID:23221805 20161020 RGD DNA:deletion, frame shift:cds, splice junction: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:11554185|PMID:23536828 20161020 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:10907 microcephaly ISO RGD:1345384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies PMID:21931569|PMID:26893459|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:14766 renal agenesis ISO RGD:1345384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:2340 craniosynostosis ISO RGD:1345384 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:2340 craniosynostosis ISO RGD:1345384 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:11554195|PMID:26382659 20161024 RGD mRNA,protein:decreased expression:diaphragm: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345384 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:23221805|PMID:26382659 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345384 D RGD:11554181|PMID:23221805 20161020 RGD DNA:deletion, frame shift:cds, splice junction: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:23806086|PMID:24088041|PMID:25736269|PMID:25741868|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1616422 D RGD:11554181|PMID:23221805 20161020 RGD DNA:deletion, frame shift:cds, splice junction: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:630 genetic disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11332973|PMID:21507892|PMID:25741868|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:784 chronic kidney disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:7240710 20130221 OMIM 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies PMID:11332973|PMID:11822703|PMID:17576681|PMID:19732862|PMID:21507892|PMID:25741868|PMID:28492532|PMID:32926405|PMID:9536098 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:11070482|PMID:21507892 20161024 RGD DNA:deletion,frameshift,missense mutations:exons,cds: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:7240710 20141015 OMIM 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome PMID:11332973|PMID:17352387|PMID:17576681|PMID:21507892|PMID:21931569|PMID:23112756|PMID:23333812|PMID:23806086|PMID:24088041|PMID:24115501|PMID:25736269|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1616422 D RGD:11070482|PMID:21507892 20161024 RGD DNA:mutation:splice junction: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9003807 Bifid Nose ISO RGD:1345384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:7240710 20140903 OMIM 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trigonocephaly 2 PMID:11332973|PMID:17576681|PMID:21507892|PMID:21931569|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1345384 D RGD:11554186|PMID:21931569 20161020 RGD DNA:deletion, duplication,missense mutation:cds: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1616422 D RGD:11554186|PMID:21931569 20161020 RGD DNA:mutations:cds: 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1345384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 1306981 Frem1 Fras1 related extracellular matrix 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1616422 D RGD:11554185|PMID:23536828 20161020 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) 1306982 Cfl2 cofilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315906 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1306982 Cfl2 cofilin 2 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1315906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 1306982 Cfl2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:7240710 20130731 OMIM 1306982 Cfl2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 7 PMID:17160903|PMID:17576681|PMID:18414213|PMID:22560515|PMID:24610938|PMID:25741868|PMID:27447704|PMID:28492532|PMID:29457652|PMID:9536098 1306982 Cfl2 cofilin 2 gene DOID:3191 nemaline myopathy ISO RGD:1315906 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:28492532 1306982 Cfl2 cofilin 2 gene DOID:630 genetic disease ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306982 Cfl2 cofilin 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1306982 Cfl2 cofilin 2 gene DOID:9005532 Muscle Weakness ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:28492532 1306983 Tmem165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:7240710 20140911 OMIM 1306983 Tmem165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:17576681|PMID:22521416|PMID:22683087|PMID:25741868|PMID:26657937|PMID:28492532|PMID:9536098 1306983 Tmem165 transmembrane protein 165 gene DOID:10487 Hirschsprung's disease ISO RGD:1601750 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1306983 Tmem165 transmembrane protein 165 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1601750 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 1306983 Tmem165 transmembrane protein 165 gene DOID:630 genetic disease ISO RGD:1601750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1306983 Tmem165 transmembrane protein 165 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1306984 Btn1a1 butyrophilin, subfamily 1, member A1 gene DOID:630 genetic disease ISO RGD:1315909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306985 Bcl2l13 Bcl2-like 13 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306985 Bcl2l13 Bcl2-like 13 gene DOID:630 genetic disease ISO RGD:1315911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306985 Bcl2l13 Bcl2-like 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315911 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306985 Bcl2l13 Bcl2-like 13 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315911 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1306987 Depdc1 DEP domain containing 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1315914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:18632300|PMID:28492532|PMID:9326941|PMID:9501220|PMID:9843205 1306987 Depdc1 DEP domain containing 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315914 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1306987 Depdc1 DEP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315914 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1306987 Depdc1 DEP domain containing 1 gene DOID:630 genetic disease ISO RGD:1315914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306987 Depdc1 DEP domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315914 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1306988 Chst2 carbohydrate sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1315916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306989 Dhrs7c dehydrogenase/reductase 7C gene DOID:630 genetic disease ISO RGD:1602060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306991 Lamp5 lysosomal-associated membrane protein family, member 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1306991 Lamp5 lysosomal-associated membrane protein family, member 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1306991 Lamp5 lysosomal-associated membrane protein family, member 5 gene DOID:630 genetic disease ISO RGD:1315920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306991 Lamp5 lysosomal-associated membrane protein family, member 5 gene DOID:9245 Alagille syndrome ISO RGD:1315920 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISS RGD:1315922 D RGD:13592920 20180518 MouseDO OMIM:610965 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:7240710 20130221 OMIM 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:17273966|PMID:23623389|PMID:25741868|PMID:28492532|PMID:33116287|PMID:33315086 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1315921 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:155260339|PMID:27340861 20221003 RGD DNA:SNP:intron: (rs3212961) (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:155260342|PMID:30417012 20221004 RGD mRNA:increased expression:stomach (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1315921 D RGD:11340202|PMID:26499900 20160629 RGD DNA:SNP:exon:354C>T (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer no_association ISO RGD:1315921 D RGD:13207425|PMID:24793015 20170728 RGD DNA:snp:intron:c.-7-277G>T (human) (rs2298881) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:13207309|PMID:24318989 20170725 RGD DNA:snps:exon, intron:c.354T>C, c.-7-277G>T (human) (rs11615, rs2298881) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:13207427|PMID:27173253 20170728 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer treatment ISO RGD:1315921 D RGD:11252163|PMID:23338051 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1074 kidney failure treatment ISO RGD:1315921 D RGD:5688741|PMID:19786980 20160627 RGD associated with Ovarian Neoplasms;DNA:SNPs: :8092C>A, 19007T>C (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:11476 osteoporosis ISO RGD:1315922 D RGD:10045609|PMID:23281008 20150612 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14227 azoospermia susceptibility ISO RGD:1315921 D RGD:13207429|PMID:18616887 20170728 RGD DNA:snp:3' utr:c.8092C>A (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14566 disease of cellular proliferation ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23203453 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1574 alcohol use disorder IEP D RGD:10045658|PMID:23095216 20150615 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1315921 D RGD:13207317|PMID:15958648 20170725 RGD DNA:snp:3' utr:c.8092C>A (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315921 D RGD:13207426|PMID:27050953 20170728 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1909 melanoma ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21722328 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1315921 D RGD:13204969|PMID:18640939 20170724 RGD DNA:snp:3' utr:c.8092C>A (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:224 transient cerebral ischemia treatment ISO RGD:1315921 D RGD:2313668|PMID:19440222 20170725 RGD human gene in a rat model 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2355 anemia treatment ISO RGD:1315921 D RGD:11252176|PMID:25881102 20160627 RGD associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2394 ovarian cancer disease_progression ISO RGD:1315921 D RGD:11252174|PMID:21216588 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1315921 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:17273966|PMID:23623389 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1315921 D RGD:13207318|PMID:25867436 20170725 RGD DNA:snp:3'utr:c.8092C>A (human) (rs3212986) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3347 osteosarcoma severity ISO RGD:1315921 D RGD:13207418|PMID:23098477 20170728 RGD DNA:silent mutation:cds:p.N118N (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:1315921 D RGD:11252162|PMID:23263828 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3905 lung carcinoma IDA D RGD:10045659|PMID:21530494 20150615 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21553054|PMID:23912706 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315921 D RGD:127229950|PMID:23549037 20210604 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:13207308|PMID:16957145 20170725 RGD protein:decreased expression:lung (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:13207428|PMID:15140544 20170728 RGD DNA:silent mutation:cds:p.N118N (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:127229948|PMID:24443257 20210604 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:153323316|PMID:28924235 20221004 RGD DNA:SNPs:multiple (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1315921 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1315921 D RGD:13207314|PMID:18478337 20170725 RGD DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4971 myelofibrosis ISO RGD:1315921 D RGD:11252175|PMID:23571153 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1315921 D RGD:155598683|PMID:15922480 20221019 RGD mRNA, protein:increased expression:liver (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:811 lipodystrophy ISO RGD:1315922 D RGD:10401088|PMID:24011075 20150924 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:8398 osteoarthritis ISO RGD:1315922 D RGD:10045611|PMID:24964749 20150612 RGD mRNA:decreased expression:knee, articular cartilage of joint 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:90 degenerative disc disease ISO RGD:1315922 D RGD:13207419|PMID:20973062 20170728 RGD associated with Progeria 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21133646 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20801905 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1315921 D RGD:11252177|PMID:26202595 20160627 RGD associated with Melanoma 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9001276 Failure to Thrive ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532|PMID:33315086 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1315922 D RGD:13204968|PMID:22212909 20170724 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:1315922 D RGD:10045610|PMID:22323595 20150612 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002867 Myeloid Leukemia, Chronic-Phase treatment ISO RGD:1315921 D RGD:11252165|PMID:22821389 20160627 RGD DNA:SNP: :rs11615 (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20934765 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003613 Laryngeal Neoplasms susceptibility ISO RGD:1315921 D RGD:13207310|PMID:24582975 20170725 RGD DNA:snp:exon:c.354T>C (human) (rs11615) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004009 Reperfusion Injury IMP D RGD:2313668|PMID:19440222 20100203 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1315921 D RGD:11340199|PMID:23543295 20160629 RGD associated with Colorectal Neoplasms;DNA:SNP 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004814 Chromosome Aberrations ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1315921 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30453383 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005372 Inflammation ISO RGD:1315922 D RGD:10401088|PMID:24011075 20150924 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:7296926|PMID:22228707 20150615 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006796 Gastrointestinal Neoplasms disease_progression ISO RGD:1315921 D RGD:11252166|PMID:20461087 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:11252168|PMID:25495407 20160627 RGD associated with Breast Neoplasms;DNA:SNP: :p.Q504K (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:11252178|PMID:17197435 20160627 RGD associated with Leukemia, Myeloid, Acute 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1315921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1315921 D RGD:13207315|PMID:16144923 20170725 RGD DNA:snp:cds:c.354C>T (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1315921 D RGD:13207423|PMID:24531312 20170728 RGD DNA:snp:3' utr:c.8092C>A (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:11252170|PMID:18604718 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:11252171|PMID:21942242 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:11252193|PMID:23397959 20160628 RGD DNA:polymorphism: :p.R399Q (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1315921 D RGD:11252173|PMID:20141440 20160627 RGD DNA:SNP: :p.Q504K (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1315921 D RGD:11252179|PMID:16507781 20160627 RGD 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:155260343|PMID:16951227 20221004 RGD mRNA:increased expression:colorectum (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:155260348|PMID:29151331 20221004 RGD DNA:SNP:exon: (rs3212986) (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1315921 D RGD:153344543|PMID:29516665 20220824 RGD DNA:SNP:3'utr: (rs3212986) (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9538 multiple myeloma treatment ISO RGD:1315921 D RGD:10450871|PMID:21435719 20160627 RGD DNA:SNP: :rs735482 (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315921 D RGD:11252160|PMID:16723154 20160627 RGD DNA:SNPs: :8092C>A, 19007G>A (human) 1306992 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1315921 D RGD:11340204|PMID:16435384 20160629 RGD DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) 1306993 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1315923 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1306993 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1315923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306993 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315923 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1306993 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1306996 Psme3 proteasome activator subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1306997 Wdr19 WD repeat domain 19 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1353133 D RGD:11552600|PMID:23683095 20161012 RGD DNA:missense mutations, frameshift mutations, snp:multiple (human) 1306997 Wdr19 WD repeat domain 19 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1353133 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1306997 Wdr19 WD repeat domain 19 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:32165824 1306997 Wdr19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 1306997 Wdr19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 1306997 Wdr19 WD repeat domain 19 gene DOID:0050795 cone dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 1306997 Wdr19 WD repeat domain 19 gene DOID:0050876 Caroli disease ISO RGD:1353133 D RGD:11528287|PMID:25726036 20161012 RGD associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) 1306997 Wdr19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:11552606|PMID:22228095 20161012 RGD DNA:missense mutation:cds:p.L750P (mouse) 1306997 Wdr19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISS RGD:1549987 D RGD:13592920 20180518 MouseDO 1306997 Wdr19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:7240710 20140903 OMIM 1306997 Wdr19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:31725169|PMID:32165824|PMID:33517396|PMID:34295353|PMID:9536098 1306997 Wdr19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1549987 D RGD:11552606|PMID:22228095 20161128 RGD DNA:missense mutation:cds:p.L750P (mouse) 1306997 Wdr19 WD repeat domain 19 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1353133 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 1306997 Wdr19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:7240710 20140903 OMIM 1306997 Wdr19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:19430947|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26355662|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:30266093|PMID:31054281|PMID:31725169|PMID:31837199|PMID:32037395|PMID:32165824|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353|PMID:9536098 1306997 Wdr19 WD repeat domain 19 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:33002628|PMID:33532864 1306997 Wdr19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:11552603|PMID:22019273 20161012 RGD DNA:missense mutation, nonsense mutation:cds:p.V345G, p.Y1023X (human) 1306997 Wdr19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:11553845|PMID:26260382 20161014 RGD DNA:missense mutations, snps, insertion:multiple (human) 1306997 Wdr19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:7240710 20140911 OMIM 1306997 Wdr19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis 13 PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:25741897|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:32165824|PMID:33002628|PMID:33532864 1306997 Wdr19 WD repeat domain 19 gene DOID:10584 retinitis pigmentosa ISO RGD:1353133 D RGD:11552600|PMID:23683095 20161012 RGD DNA:missense mutation:cds:p.L710S (human) 1306997 Wdr19 WD repeat domain 19 gene DOID:10584 retinitis pigmentosa ISO RGD:1353133 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 1306997 Wdr19 WD repeat domain 19 gene DOID:1059 intellectual disability ISO RGD:1353133 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1306997 Wdr19 WD repeat domain 19 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353133 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23559409|PMID:25726036|PMID:25741868|PMID:26260382|PMID:27596865|PMID:28492532|PMID:28621010|PMID:32165824 1306997 Wdr19 WD repeat domain 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 1306997 Wdr19 WD repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 1306997 Wdr19 WD repeat domain 19 gene DOID:65 connective tissue disease ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:33517396|PMID:9536098 1306997 Wdr19 WD repeat domain 19 gene DOID:8501 fundus dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:34295353 1306997 Wdr19 WD repeat domain 19 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1306997 Wdr19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:7240710 20170405 OMIM 1306997 Wdr19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 8 PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:32165824|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353 1306997 Wdr19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:7240710 20220518 OMIM 1306997 Wdr19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 72 PMID:32323121 1306997 Wdr19 WD repeat domain 19 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1353133 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 1306997 Wdr19 WD repeat domain 19 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315930 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:7240710 20200226 OMIM 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 PMID:25741868|PMID:27895300 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315930 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:3627 aortic aneurysm ISO RGD:1315930 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868|PMID:27895300 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:8725 vascular dementia ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:7240710 20230215 OMIM 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 13 PMID:26036949|PMID:28749478|PMID:30055085|PMID:33569873 1306998 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1315930 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1306999 Gpx7 glutathione peroxidase 7 gene DOID:630 genetic disease ISO RGD:1315932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1306999 Gpx7 glutathione peroxidase 7 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1315932 D RGD:151665749|PMID:18664505 20220630 RGD DNA:hypermethylation:promoter 1306999 Gpx7 glutathione peroxidase 7 gene DOID:9206 Barrett's esophagus ISO RGD:1315932 D RGD:151665749|PMID:18664505 20220630 RGD DNA:hypermethylation:promoter 1307000 Fcsk fucose kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315934 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1307000 Fcsk fucose kinase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307000 Fcsk fucose kinase gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 1307000 Fcsk fucose kinase gene DOID:630 genetic disease ISO RGD:1315934 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307000 Fcsk fucose kinase gene DOID:9001022 Congenital Disorder of Glycosylation with Defective Fucosylation ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation PMID:28492532 1307000 Fcsk fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:7240710 20190315 OMIM 1307000 Fcsk fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30503518 1307001 Pgls 6-phosphogluconolactonase gene DOID:11476 osteoporosis ISO RGD:1315936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1307001 Pgls 6-phosphogluconolactonase gene DOID:630 genetic disease ISO RGD:1315936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307002 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1307002 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1307002 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:0111254 glutaric acidemia I ISO RGD:1315938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1307002 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:3413 alpha-mannosidosis ISO RGD:1315938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1307002 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:630 genetic disease ISO RGD:1315938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307003 Brd8 bromodomain containing 8 gene DOID:0050861 colorectal adenocarcinoma disease_progression IEP D RGD:9587763|PMID:19787264 20141016 RGD 1307003 Brd8 bromodomain containing 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1315939 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1307003 Brd8 bromodomain containing 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307003 Brd8 bromodomain containing 8 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1315939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1307003 Brd8 bromodomain containing 8 gene DOID:289 endometriosis ISO RGD:1315939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1307003 Brd8 bromodomain containing 8 gene DOID:630 genetic disease ISO RGD:1315939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307003 Brd8 bromodomain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315939 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307003 Brd8 bromodomain containing 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307004 Fubp3 far upstream element binding protein 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307004 Fubp3 far upstream element binding protein 3 gene DOID:630 genetic disease ISO RGD:1315940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307004 Fubp3 far upstream element binding protein 3 gene DOID:9273 citrullinemia ISO RGD:1315940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 1307005 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307005 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:28492532|PMID:9536098 1307005 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 1307005 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:630 genetic disease ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307005 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1315942 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 1307006 Ms4a4a membrane spanning 4-domains A4A gene DOID:0080600 COVID-19 ISO RGD:1315944 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307006 Ms4a4a membrane spanning 4-domains A4A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1307006 Ms4a4a membrane spanning 4-domains A4A gene DOID:1059 intellectual disability ISO RGD:1315944 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307006 Ms4a4a membrane spanning 4-domains A4A gene DOID:10652 Alzheimer's disease ISO RGD:1315944 D RGD:11554173 20170630 CTD CTD Direct Evidence: marker/mechanism PMID:21460841 1307006 Ms4a4a membrane spanning 4-domains A4A gene DOID:630 genetic disease ISO RGD:1315944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307006 Ms4a4a membrane spanning 4-domains A4A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315944 D RGD:11554173 20170630 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1307008 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1307008 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1601949 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307008 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1601949 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1307008 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:630 genetic disease ISO RGD:1601949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307009 Uimc1 ubiquitin interaction motif containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1307009 Uimc1 ubiquitin interaction motif containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1307009 Uimc1 ubiquitin interaction motif containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601999 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1307009 Uimc1 ubiquitin interaction motif containing 1 gene DOID:630 genetic disease ISO RGD:1601999 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307009 Uimc1 ubiquitin interaction motif containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601999 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307009 Uimc1 ubiquitin interaction motif containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1307010 Glod4 glyoxalase domain containing 4 gene DOID:630 genetic disease ISO RGD:1315949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307011 Fxr2 FMR1 autosomal homolog 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307011 Fxr2 FMR1 autosomal homolog 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1307011 Fxr2 FMR1 autosomal homolog 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1315950 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307011 Fxr2 FMR1 autosomal homolog 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315950 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1307011 Fxr2 FMR1 autosomal homolog 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1307011 Fxr2 FMR1 autosomal homolog 2 gene DOID:630 genetic disease ISO RGD:1315950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307012 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050690 brachyolmia ISO RGD:1315952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:22791835|PMID:23633440|PMID:24033266|PMID:28492532 1307012 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1315952 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1307012 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:7240710 20130221 OMIM 1307012 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type PMID:16199547|PMID:17576681|PMID:19474428|PMID:22791835|PMID:23633440|PMID:23824674|PMID:24033266|PMID:25326635|PMID:25594860|PMID:25741868|PMID:28492532|PMID:31313512|PMID:9536098|PMID:9714015|PMID:9771708 1307012 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1315952 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1307012 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:630 genetic disease ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307014 Mob1a MOB kinase activator 1A gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315956 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1307014 Mob1a MOB kinase activator 1A gene DOID:543 dystonia ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307014 Mob1a MOB kinase activator 1A gene DOID:630 genetic disease ISO RGD:1315956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307014 Mob1a MOB kinase activator 1A gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307015 Wnt10a Wnt family member 10A gene DOID:0050591 tooth agenesis ISO RGD:1315958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 1307015 Wnt10a Wnt family member 10A gene DOID:0050746 mantle cell lymphoma ISO RGD:1315958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 1307015 Wnt10a Wnt family member 10A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315958 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1307015 Wnt10a Wnt family member 10A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1315958 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:22581971|PMID:23401279|PMID:24398796|PMID:28492532|PMID:30426266 1307015 Wnt10a Wnt family member 10A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1307015 Wnt10a Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:7240710 20130221 OMIM 1307015 Wnt10a Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome PMID:16199547|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246 1307015 Wnt10a Wnt family member 10A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1307015 Wnt10a Wnt family member 10A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 1307015 Wnt10a Wnt family member 10A gene DOID:2121 ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434 1307015 Wnt10a Wnt family member 10A gene DOID:3390 palmoplantar keratosis ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:24449199|PMID:28492532 1307015 Wnt10a Wnt family member 10A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1307015 Wnt10a Wnt family member 10A gene DOID:630 genetic disease ISO RGD:1315958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434 1307015 Wnt10a Wnt family member 10A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315958 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307015 Wnt10a Wnt family member 10A gene DOID:9006065 Arthralgia ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthralgias PMID:24449199|PMID:28492532 1307015 Wnt10a Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:7240710 20141015 OMIM 1307015 Wnt10a Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:9536098 1307015 Wnt10a Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:7240710 20130221 OMIM 1307015 Wnt10a Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 16, HYPO- OR HYPERHIDROTIC/HAIR/TOOTH/NAIL TYPE PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28589954|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:9536098 1307016 Plscr3 phospholipid scramblase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307016 Plscr3 phospholipid scramblase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315960 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1307016 Plscr3 phospholipid scramblase 3 gene DOID:1059 intellectual disability ISO RGD:1315960 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307016 Plscr3 phospholipid scramblase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1315960 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307016 Plscr3 phospholipid scramblase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1315960 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1307016 Plscr3 phospholipid scramblase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1307016 Plscr3 phospholipid scramblase 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1315960 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1307016 Plscr3 phospholipid scramblase 3 gene DOID:630 genetic disease ISO RGD:1315960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307016 Plscr3 phospholipid scramblase 3 gene DOID:9970 obesity ISS RGD:1315961 D RGD:13592920 20180518 MouseDO OMIM:601665 1307017 Zfp507 zinc finger protein 507 gene DOID:630 genetic disease ISO RGD:1315962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307018 Niban2 niban apoptosis regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1307018 Niban2 niban apoptosis regulator 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1315963 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 1307018 Niban2 niban apoptosis regulator 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1315963 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1307018 Niban2 niban apoptosis regulator 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1307018 Niban2 niban apoptosis regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1315963 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307018 Niban2 niban apoptosis regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1307018 Niban2 niban apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1315963 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307021 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315966 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1307021 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:11832 visual epilepsy IEP D RGD:2302390|PMID:12213446 20081216 RGD mRNA:decreased expression:brain 1307021 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1315966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307021 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1307022 Poldip2 DNA polymerase delta interacting protein 2 gene DOID:11574 streptococcal meningitis treatment ISO RGD:1315968 D RGD:124713556|PMID:32790044 20210322 RGD 1307022 Poldip2 DNA polymerase delta interacting protein 2 gene DOID:9002514 Neointima ISO RGD:1315968 D RGD:124713557|PMID:30237457 20210322 RGD 1307023 Rhot1 ras homolog family member T1 gene DOID:231 motor neuron disease ISS RGD:1315970 D RGD:13592920 20180518 MouseDO 1307023 Rhot1 ras homolog family member T1 gene DOID:630 genetic disease ISO RGD:1315969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:0050685 small cell carcinoma ISO RGD:1315971 D RGD:151347636|PMID:24823637 20220131 RGD protein:increased expression:lung (human) 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:2841 asthma ISO RGD:1315971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25256354 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1315971 D RGD:151347636|PMID:24823637 20220131 RGD protein:increased expression:lung (human) 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1315971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1315971 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:7240710 20210804 OMIM 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 84 PMID:25741868|PMID:34155405 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:9074 systemic lupus erythematosus ISS RGD:1315972 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1307024 Ikzf3 IKAROS family zinc finger 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315971 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 1307025 Actr1a actin related protein 1A gene DOID:14250 Down syndrome ISO RGD:1315973 D RGD:13831340|PMID:11829462 20181227 RGD protein:decreased expression:cortex 1307025 Actr1a actin related protein 1A gene DOID:219 colon cancer ISO RGD:1315973 D RGD:13831341|PMID:26422100 20181227 RGD 1307025 Actr1a actin related protein 1A gene DOID:630 genetic disease ISO RGD:1315973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:0060496 respiratory allergy ISO RGD:1315975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:0060900 Parkinson's disease 14 ISO RGD:1315975 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:7240710 20190315 OMIM 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 PMID:25741868|PMID:27431290|PMID:28492532|PMID:28541650|PMID:29498153|PMID:29685658|PMID:30232769|PMID:32626807 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:630 genetic disease ISO RGD:1315975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29498153 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:9000304 Manganese Poisoning ISO RGD:1315975 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:9000831 Hypokinesia ISO RGD:1315975 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:7240710 20200624 OMIM 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperostosis cranialis interna PMID:2300107|PMID:25741868|PMID:28492532|PMID:29621230 1307026 Slc39a14 solute carrier family 39 member 14 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1307027 Zmym1 zinc finger MYM-type containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315977 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307027 Zmym1 zinc finger MYM-type containing 1 gene DOID:630 genetic disease ISO RGD:1315977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307028 Gfus GDP-L-fucose synthase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307028 Gfus GDP-L-fucose synthase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307028 Gfus GDP-L-fucose synthase gene DOID:4621 holoprosencephaly ISO RGD:1315979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307028 Gfus GDP-L-fucose synthase gene DOID:630 genetic disease ISO RGD:1315979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:7240710 20130221 OMIM 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:10364514|PMID:11565064|PMID:12244547|PMID:15633184|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132|PMID:30311386|PMID:3238439|PMID:33356723|PMID:8528240|PMID:9536098 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386|PMID:31896775 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315981 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1315981 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1315981 D RGD:1600952|PMID:8528240 20070402 RGD DNA:splice-site mutation 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:630 genetic disease ISO RGD:1315981 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1315981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:7240710 20140903 OMIM 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type 5 PMID:20301479|PMID:21671392|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33356723 1307029 Col9a2 collagen type IX alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1315981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1307030 Strn4 striatin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1315983 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 1307030 Strn4 striatin 4 gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1315983 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I PMID:25741868 1307030 Strn4 striatin 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 1307030 Strn4 striatin 4 gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1315983 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:25741868 1307030 Strn4 striatin 4 gene DOID:630 genetic disease ISO RGD:1315983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307031 Mdga1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:630 genetic disease ISO RGD:1315985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307031 Mdga1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1315985 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 1307032 Grep1 glycine rich extracellular protein 1 gene DOID:1749 squamous cell carcinoma ISO RGD:5683682 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 1307032 Grep1 glycine rich extracellular protein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:5683682 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 1307032 Grep1 glycine rich extracellular protein 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:5683682 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 1307032 Grep1 glycine rich extracellular protein 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:5683682 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:7240710 20130221 OMIM 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC PMID:16199547|PMID:19836010|PMID:22829427|PMID:24033266|PMID:25741868|PMID:25882708|PMID:28492532|PMID:31115174|PMID:35972031 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1315988 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1315988 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:25741868 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:114 heart disease ISO RGD:1315989 D RGD:1582112|PMID:12208849 20061101 RGD 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:2340 craniosynostosis ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:3068 glioblastoma ISO RGD:1315988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:3144 cutis laxa ISO RGD:1315988 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:3144 cutis laxa ISS RGD:1315989 D RGD:13592920 20180518 MouseDO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:630 genetic disease ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 1307033 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:9269 maple syrup urine disease ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307034 Fry FRY microtubule binding protein gene DOID:1059 intellectual disability ISO RGD:1349911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1307034 Fry FRY microtubule binding protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 1307034 Fry FRY microtubule binding protein gene DOID:630 genetic disease ISO RGD:1349911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307034 Fry FRY microtubule binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307035 Cadm3 cell adhesion molecule 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1307035 Cadm3 cell adhesion molecule 3 gene DOID:10283 prostate cancer ISO RGD:1315991 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307035 Cadm3 cell adhesion molecule 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1315991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307035 Cadm3 cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1315991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307035 Cadm3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:7240710 20210929 OMIM 1307035 Cadm3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF PMID:25741868|PMID:33889941 1307035 Cadm3 cell adhesion molecule 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315991 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307037 Tmc5 transmembrane channel-like 5 gene DOID:630 genetic disease ISO RGD:1315994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307038 Dusp11 dual specificity phosphatase 11 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1307038 Dusp11 dual specificity phosphatase 11 gene DOID:543 dystonia ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307038 Dusp11 dual specificity phosphatase 11 gene DOID:630 genetic disease ISO RGD:1315996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307038 Dusp11 dual specificity phosphatase 11 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:1059 intellectual disability ISO RGD:1315998 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28942966 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:1315998 D RGD:9586059|PMID:9792236 20140926 RGD protein:increased expression:microglia: 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:10907 microcephaly ISO RGD:1315998 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:1315998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:12849 autistic disorder ISO RGD:1315998 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315998 D RGD:9586057|PMID:9225734 20140926 RGD mRNA,protein:increased expression:spinal cord: 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:630 genetic disease ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27452334|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315998 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:1315998 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28942966 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1315998 D RGD:7240710 20190315 OMIM 1307039 Bptf bromodomain PHD finger transcription factor gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:0050860 colorectal adenoma ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1316000 D RGD:150429750|PMID:28319306 20210923 RGD mRNA:increased expression:tongue squamous epithelium (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:0050933 ovarian serous carcinoma ISO RGD:1316000 D RGD:2293332|PMID:16627982 20080527 RGD ovarian serous carcinoma 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316000 D RGD:2306057|PMID:15665277 20090319 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1316000 D RGD:150429822|PMID:20554746 20211001 RGD DNA:SNP:promoter: -1304T>G (rs3826392) (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:1316000 D RGD:5490966|PMID:18772397 20110921 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:224 transient cerebral ischemia IDA D RGD:7495830|PMID:9195981 20131216 RGD protein:increased threonine phosphorylation:heart, nucleus 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:2615 papilloma ISO RGD:1316001 D RGD:7495823|PMID:20610622 20131216 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1316000 D RGD:150429781|PMID:19513509 20210928 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1316000 D RGD:2289400|PMID:15592684 20080410 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1316000 D RGD:5490968|PMID:20699612 20110921 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:150429764|PMID:10854223 20210927 RGD protein:increased expression:stomach (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1316000 D RGD:11521299|PMID:26165383 20211001 RGD associated with Postoperative Complications;DNA:SNP:intron: (rs12452497)(human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1316001 D RGD:150429821|PMID:12231543 20211001 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1316001 D RGD:150429783|PMID:21896780 20210928 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1316000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316000 D RGD:150429765|PMID:32850377 20210927 RGD protein:decreased expression:liver (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:769 neuroblastoma ISO RGD:1316000 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1316000 D RGD:2293334|PMID:17577251 20080711 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1316001 D RGD:7495828|PMID:21454599 20131216 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9000774 Brain Death IDA D RGD:7495829|PMID:23157661 20131216 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1316000 D RGD:150429749|PMID:22165133 20210923 RGD associated with oral squamous cell carcinoma;mRNA, protein:increased expression:lymph node (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7495824|PMID:19668425 20131216 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316000 D RGD:2293334|PMID:17577251 20080527 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316000 D RGD:2293333|PMID:11306453 20080527 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316001 D RGD:2293337|PMID:16322247 20080528 RGD expression of mouse gene inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316001 D RGD:2293338|PMID:16489030 20080528 RGD expression of the mouse gene inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9004464 Skin Neoplasms treatment ISO RGD:1316001 D RGD:7495826|PMID:21378167 20131216 RGD 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9007980 Sleep Deprivation IEP D RGD:7495827|PMID:23859770 20131216 RGD mRNA, protein:decreased expression:mandible condylar process 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1316000 D RGD:7495825|PMID:19404734 20131216 RGD DNA:SNP, haplotype 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1316000 D RGD:150429744|PMID:19610067 20210922 RGD DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9256 colorectal cancer severity ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:150429759|PMID:27373035 20210927 RGD DNA:SNP:promoter: -1304T>G, -1304G>G (human) 1307040 Map2k4 mitogen activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:150429763|PMID:21702039 20210927 RGD associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) 1307041 Pcid2 PCI domain containing 2 gene DOID:2213 hemorrhagic disease ISO RGD:1601857 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1307041 Pcid2 PCI domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1601857 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1307041 Pcid2 PCI domain containing 2 gene DOID:630 genetic disease ISO RGD:1601857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307043 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307043 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1316004 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1307043 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307043 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316004 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1307043 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:630 genetic disease ISO RGD:1316004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307043 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1316004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1307044 Mocs3 molybdenum cofactor synthesis 3 gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1316006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 1307044 Mocs3 molybdenum cofactor synthesis 3 gene DOID:630 genetic disease ISO RGD:1316006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307044 Mocs3 molybdenum cofactor synthesis 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1307045 Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1307045 Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:1316008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307045 Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 1307045 Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307047 Atxn7l2 ataxin 7-like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1350736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1307047 Atxn7l2 ataxin 7-like 2 gene DOID:12849 autistic disorder ISO RGD:1350736 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307047 Atxn7l2 ataxin 7-like 2 gene DOID:630 genetic disease ISO RGD:1350736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307048 Vil1 villin 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316011 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1307048 Vil1 villin 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1307048 Vil1 villin 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1307048 Vil1 villin 1 gene DOID:13580 cholestasis ISO RGD:1316011 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1307048 Vil1 villin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1307048 Vil1 villin 1 gene DOID:630 genetic disease ISO RGD:1316011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307048 Vil1 villin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316011 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307049 Helz helicase with zinc finger gene DOID:630 genetic disease ISO RGD:1316013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307050 Steap2 STEAP2 metalloreductase gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1316016 D RGD:13524567|PMID:19656261 20180423 RGD protein:increased expression:spinal chord 1307050 Steap2 STEAP2 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316015 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307050 Steap2 STEAP2 metalloreductase gene DOID:630 genetic disease ISO RGD:1316015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307051 Acss3 acyl-CoA synthetase short-chain family member 3 gene DOID:630 genetic disease ISO RGD:1603012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307054 Pus7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:7240710 20190315 OMIM 1307054 Pus7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature PMID:25741868|PMID:28492532|PMID:30526862|PMID:30778726|PMID:35144859 1307054 Pus7 pseudouridine synthase 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603643 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307054 Pus7 pseudouridine synthase 7 gene DOID:630 genetic disease ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:35144859 1307055 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:0050778 Meckel syndrome ISO RGD:1605630 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:24360803|PMID:25558065|PMID:25741868 1307055 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:7240710 20140911 OMIM 1307055 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:20301500|PMID:24033266|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29706646|PMID:9536098 1307055 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:10907 microcephaly ISO RGD:1605630 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1307055 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:630 genetic disease ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1307055 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605630 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1307056 Fhl5 four and a half LIM domains 5 gene DOID:630 genetic disease ISO RGD:1316022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307056 Fhl5 four and a half LIM domains 5 gene DOID:6364 migraine ISO RGD:1316022 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:3525 middle cerebral artery infarction ameliorates IEP D RGD:242905190|PMID:35322553 20230327 RGD 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:630 genetic disease ISO RGD:1316024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307057 C1qtnf6 C1q and TNF related 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 1307058 Erlin1 ER lipid raft associated 1 gene DOID:0080600 COVID-19 ISO RGD:1344396 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307058 Erlin1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:7240710 20190315 OMIM 1307058 Erlin1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:9536098 1307058 Erlin1 ER lipid raft associated 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1344396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1307058 Erlin1 ER lipid raft associated 1 gene DOID:630 genetic disease ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307058 Erlin1 ER lipid raft associated 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1344396 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603827 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603827 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603827 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:630 genetic disease ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603827 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603827 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1307059 C1qtnf12 C1q and TNF related 12 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307061 Arhgef28 Rho guanine nucleotide exchange factor 28 gene DOID:630 genetic disease ISO RGD:6892765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307061 Arhgef28 Rho guanine nucleotide exchange factor 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892765 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307063 Cdc40 cell division cycle 40 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:33220177 1307063 Cdc40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:7240710 20210505 OMIM 1307063 Cdc40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 PMID:33220177 1307063 Cdc40 cell division cycle 40 gene DOID:630 genetic disease ISO RGD:1316032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307064 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307064 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1601882 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1307064 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1601882 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 1307064 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:630 genetic disease ISO RGD:1601882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307065 Mrpl35 mitochondrial ribosomal protein L35 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1316034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1307065 Mrpl35 mitochondrial ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1316034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307065 Mrpl35 mitochondrial ribosomal protein L35 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1316034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 1307066 Tmem53 transmembrane protein 53 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307066 Tmem53 transmembrane protein 53 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603008 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307066 Tmem53 transmembrane protein 53 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307066 Tmem53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:7240710 20220309 OMIM 1307066 Tmem53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia PMID:25741868|PMID:33824347 1307066 Tmem53 transmembrane protein 53 gene DOID:630 genetic disease ISO RGD:1603008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307067 R3hdm4 R3H domain containing 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316037 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1307067 R3hdm4 R3H domain containing 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1307067 R3hdm4 R3H domain containing 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1307067 R3hdm4 R3H domain containing 4 gene DOID:630 genetic disease ISO RGD:1316037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307068 Snta1 syntrophin, alpha 1 gene DOID:0050451 Brugada syndrome ISO RGD:1316039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:26220970|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:18591664|PMID:22378279|PMID:25741868|PMID:27028743|PMID:28492532|PMID:31589614 1307068 Snta1 syntrophin, alpha 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1316039 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:25741868|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19684871|PMID:20009079|PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:28837624|PMID:29343803|PMID:30847666 1307068 Snta1 syntrophin, alpha 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1316039 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 1307068 Snta1 syntrophin, alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:7240710 20150930 OMIM 1307068 Snta1 syntrophin, alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 1307068 Snta1 syntrophin, alpha 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:13884 sick sinus syndrome ISO RGD:1316039 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:1824 status epilepticus IEP D RGD:5148023|PMID:20886625 20120322 RGD protein:decreased expression:piriform cortex 1307068 Snta1 syntrophin, alpha 1 gene DOID:1824 status epilepticus ISO RGD:1316039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 1307068 Snta1 syntrophin, alpha 1 gene DOID:2843 long QT syndrome ISO RGD:1316039 D RGD:6771370|PMID:19684871 20120730 RGD DNA:missense mutation:275A>G (human) 1307068 Snta1 syntrophin, alpha 1 gene DOID:2843 long QT syndrome ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 1307068 Snta1 syntrophin, alpha 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316039 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23631430|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:630 genetic disease ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307068 Snta1 syntrophin, alpha 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1316039 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 1307068 Snta1 syntrophin, alpha 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:26220970|PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624 1307068 Snta1 syntrophin, alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30847666 1307068 Snta1 syntrophin, alpha 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316039 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20009079|PMID:24319568|PMID:25650408|PMID:25741868|PMID:28492532|PMID:29343803 1307068 Snta1 syntrophin, alpha 1 gene DOID:9007 sudden infant death syndrome susceptibility ISO RGD:1316039 D RGD:6771369|PMID:20009079 20120730 RGD DNA:missense mutations:cds:multiple 1307068 Snta1 syntrophin, alpha 1 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 1307068 Snta1 syntrophin, alpha 1 gene DOID:9883 Becker muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 1307069 Abca8 ATP binding cassette subfamily A member 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1316041 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1307069 Abca8 ATP binding cassette subfamily A member 8 gene DOID:630 genetic disease ISO RGD:1316041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307069 Abca8 ATP binding cassette subfamily A member 8 gene DOID:9002801 Recurrence ISO RGD:1316041 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1307069 Abca8 ATP binding cassette subfamily A member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316041 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1307069 Abca8 ATP binding cassette subfamily A member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316041 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1307069 Abca8 ATP binding cassette subfamily A member 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1316041 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 1307070 Pex11g peroxisomal biogenesis factor 11 gamma gene DOID:0080490 mucolipidosis type IV ISO RGD:1316043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1307070 Pex11g peroxisomal biogenesis factor 11 gamma gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1316043 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 1307070 Pex11g peroxisomal biogenesis factor 11 gamma gene DOID:630 genetic disease ISO RGD:1316043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307071 Kiz kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:7240710 20170405 OMIM 1307071 Kiz kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 69 PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 1307071 Kiz kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 1307071 Kiz kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 1307071 Kiz kizuna centrosomal protein gene DOID:630 genetic disease ISO RGD:1316045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307071 Kiz kizuna centrosomal protein gene DOID:8501 fundus dystrophy ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 1307072 Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:630 genetic disease ISO RGD:1316046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307072 Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316046 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1307074 Cog8 component of oligomeric golgi complex 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307074 Cog8 component of oligomeric golgi complex 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:7240710 20130221 OMIM 1307074 Cog8 component of oligomeric golgi complex 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG PMID:16199547|PMID:17220172|PMID:17331980|PMID:21811164|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30690882 1307074 Cog8 component of oligomeric golgi complex 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1316049 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 1307074 Cog8 component of oligomeric golgi complex 8 gene DOID:630 genetic disease ISO RGD:1316049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder IMP D RGD:126790476|PMID:30126973 20210422 RGD 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1316053 D RGD:13450908|PMID:25609168 20171108 RGD 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20176116|PMID:21082657|PMID:21572417|PMID:21962519 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352756 D RGD:8553826|PMID:18179895 20171108 RGD DNA:polymorphisms:cds 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30763456 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060243 stuttering ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21108403 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060244 specific language impairment susceptibility ISO RGD:1352756 D RGD:13450918|PMID:18987363 20171108 RGD DNA:SNPs: :(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19896112 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:1352756 D RGD:13450912|PMID:19896112 20171108 RGD DNA:deletions: : 1307076 Cntnap2 contactin associated protein 2 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:27747449|PMID:28492532 1307076 Cntnap2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:7240710 20230510 OMIM 1307076 Cntnap2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:11568923|PMID:16199547|PMID:16571880|PMID:17576681|PMID:18179895|PMID:18414213|PMID:19302947|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22031302|PMID:22872700|PMID:23714751|PMID:24083349|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25640679|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27066544|PMID:27439707|PMID:27621318|PMID:27734276|PMID:27747449|PMID:28440294|PMID:28492532|PMID:28726809|PMID:29261713|PMID:29358611|PMID:29788201|PMID:31875159|PMID:32860008|PMID:33895390|PMID:34540591|PMID:34778490|PMID:34926809|PMID:6564677|PMID:9536098 1307076 Cntnap2 contactin associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1352756 D RGD:13450912|PMID:19896112 20171108 RGD DNA:deletions: 1307076 Cntnap2 contactin associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18179895|PMID:20711234|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27439707|PMID:28492532 1307076 Cntnap2 contactin associated protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352756 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 1307076 Cntnap2 contactin associated protein 2 gene DOID:11257 social phobia susceptibility ISO RGD:1352756 D RGD:13450911|PMID:21193173 20171108 RGD DNA:SNP: :rs2710102(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:11832 visual epilepsy IMP D RGD:12880397|PMID:28364455 20170505 RGD 1307076 Cntnap2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1316053 D RGD:12880397|PMID:28364455 20170505 RGD 1307076 Cntnap2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1352756 D RGD:13450912|PMID:19896112 20171108 RGD DNA:deletions: 1307076 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18179894|PMID:18621663|PMID:20157312|PMID:21310003 1307076 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:7240710 20230510 OMIM 1307076 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:17576681|PMID:18179893|PMID:18179894|PMID:18179895|PMID:18414213|PMID:19456320|PMID:20711234|PMID:21681106|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29358611|PMID:29788201|PMID:30208311|PMID:31875159|PMID:9536098 1307076 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder no_association ISO RGD:1352756 D RGD:13450907|PMID:23277129 20171108 RGD DNA:SNPs: :rs2710102,rs7794745(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352756 D RGD:13450909|PMID:18179894 20171108 RGD DNA:SNP: :rs7794745(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:13365 reading disorder susceptibility ISO RGD:1352756 D RGD:13450919|PMID:21165691 20171108 RGD DNA:SNPs: : 1307076 Cntnap2 contactin associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:1352756 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 1307076 Cntnap2 contactin associated protein 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1352756 D RGD:13450917|PMID:23123147 20171108 RGD DNA:SNPs: : rs2710102,rs2710117(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:14731 Weaver syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 1307076 Cntnap2 contactin associated protein 2 gene DOID:1826 epilepsy ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20502679|PMID:21962519 1307076 Cntnap2 contactin associated protein 2 gene DOID:1826 epilepsy ISO RGD:1352756 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1307076 Cntnap2 contactin associated protein 2 gene DOID:2234 focal epilepsy ISO RGD:1352756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 1307076 Cntnap2 contactin associated protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18179895|PMID:22872700|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29788201 1307076 Cntnap2 contactin associated protein 2 gene DOID:4186 articulation disorder susceptibility ISO RGD:1352756 D RGD:11529633|PMID:25895914 20171109 RGD DNA:SNPs,haplotype: :rs253897(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:4189 mutism susceptibility ISO RGD:1352756 D RGD:13450911|PMID:21193173 20171108 RGD DNA:SNP,haplotype: :rs2710102,rs6944808(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1307076 Cntnap2 contactin associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20157312 1307076 Cntnap2 contactin associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1352756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1307076 Cntnap2 contactin associated protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1352756 D RGD:13450917|PMID:23123147 20171108 RGD DNA:SNP: : rs17236239(human) 1307076 Cntnap2 contactin associated protein 2 gene DOID:630 genetic disease ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18179895|PMID:18414213|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:23714751|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27621318|PMID:27747449|PMID:28440294|PMID:28492532|PMID:29358611|PMID:29788201|PMID:31875159|PMID:6564677 1307076 Cntnap2 contactin associated protein 2 gene DOID:8927 learning disability ISO RGD:1316053 D RGD:13450914|PMID:26873041 20171108 RGD 1307076 Cntnap2 contactin associated protein 2 gene DOID:9001846 Schizoaffective Disorder, Depressive Type ISO RGD:1352756 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Schizoaffective disorder, depressive type PMID:26985448 1307076 Cntnap2 contactin associated protein 2 gene DOID:9002362 Hyperkinesis ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21962519 1307076 Cntnap2 contactin associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352756 D RGD:13450910|PMID:28572274 20171108 RGD 1307076 Cntnap2 contactin associated protein 2 gene DOID:9005466 Language Development Disorders ISO RGD:1352756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20157312|PMID:21082657|PMID:21310003 1307078 Tdrd5 tudor domain containing 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1307078 Tdrd5 tudor domain containing 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1316056 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307078 Tdrd5 tudor domain containing 5 gene DOID:630 genetic disease ISO RGD:1316056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307078 Tdrd5 tudor domain containing 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316056 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1307078 Tdrd5 tudor domain containing 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316056 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:18945719|PMID:22691581|PMID:25741868|PMID:26567084|PMID:28492532|PMID:30359775|PMID:30408610|PMID:31960617 1307079 Spag8 sperm associated antigen 8 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316057 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316057 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316057 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:630 genetic disease ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307079 Spag8 sperm associated antigen 8 gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1316057 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:30359775|PMID:30408610|PMID:32720985 1307079 Spag8 sperm associated antigen 8 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:1316057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:16384845|PMID:22691581|PMID:25741868|PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316057 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307079 Spag8 sperm associated antigen 8 gene DOID:9870 galactosemia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1307080 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1307080 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:630 genetic disease ISO RGD:1316058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307081 Tekt5 tektin 5 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1307081 Tekt5 tektin 5 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1307081 Tekt5 tektin 5 gene DOID:5419 schizophrenia ISO RGD:1605283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1307081 Tekt5 tektin 5 gene DOID:5812 MHC class II deficiency ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 1307081 Tekt5 tektin 5 gene DOID:630 genetic disease ISO RGD:1605283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307083 Tp73 tumor protein p73 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1316062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 1307083 Tp73 tumor protein p73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307083 Tp73 tumor protein p73 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1316062 D RGD:151347585|PMID:19956069 20220127 RGD protein:increased expression:colon (human) 1307083 Tp73 tumor protein p73 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316062 D RGD:2290583|PMID:17446929 20080320 RGD mRNA:increased expression:breast 1307083 Tp73 tumor protein p73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316062 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307083 Tp73 tumor protein p73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307083 Tp73 tumor protein p73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307083 Tp73 tumor protein p73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307083 Tp73 tumor protein p73 gene DOID:10283 prostate cancer ISO RGD:1316062 D RGD:2298529|PMID:15492805 20080708 RGD mRNA:alternative forms 1307083 Tp73 tumor protein p73 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1316062 D RGD:2290587|PMID:16254107 20080320 RGD mRNA, protein:increased expression:prostate gland 1307083 Tp73 tumor protein p73 gene DOID:10534 stomach cancer exacerbates ISO RGD:1316062 D RGD:151347595|PMID:16190407 20220127 RGD mRNA:decreased expression:stomach (human) 1307083 Tp73 tumor protein p73 gene DOID:10754 otitis media ISS RGD:1316063 D RGD:13592920 20180518 MouseDO OMIM:166760 1307083 Tp73 tumor protein p73 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1316062 D RGD:2291836|PMID:10383132 20080331 RGD mRNA:increased expression:urinary bladder 1307083 Tp73 tumor protein p73 gene DOID:11132 prostatic hypertrophy ISO RGD:1316062 D RGD:2298529|PMID:15492805 20080708 RGD mRNA:alternative forms 1307083 Tp73 tumor protein p73 gene DOID:11162 respiratory failure ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:34077761 1307083 Tp73 tumor protein p73 gene DOID:1324 lung cancer ISO RGD:1316062 D RGD:2291830|PMID:11139314 20080331 RGD 1307083 Tp73 tumor protein p73 gene DOID:1324 lung cancer susceptibility ISO RGD:1316062 D RGD:151347583|PMID:32063627 20220127 RGD DNA:SNPs:exon 2:4G>A, 14C>T (human) 1307083 Tp73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:151347588|PMID:14732927 20220127 RGD DNA:deletion:intron:IVS1-489_-417del (human) 1307083 Tp73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:2291830|PMID:11139314 20080331 RGD 1307083 Tp73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:2291831|PMID:11103943 20080331 RGD DNA, mRNA:loss of heterozygosity, decreased expression:breast 1307083 Tp73 tumor protein p73 gene DOID:1612 breast cancer disease_progression ISO RGD:1316062 D RGD:2290584|PMID:16950799 20080320 RGD DNA:polymorphism 1307083 Tp73 tumor protein p73 gene DOID:1612 breast cancer no_association ISO RGD:1316062 D RGD:2291835|PMID:10634515 20080331 RGD DNA:mutations 1307083 Tp73 tumor protein p73 gene DOID:2154 nephroblastoma ISO RGD:1316062 D RGD:2291834|PMID:10760569 20080331 RGD DNA:loss of heterozygosity:kidney 1307083 Tp73 tumor protein p73 gene DOID:234 colon adenocarcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:colon (human) PMID:30420492|REF_RGD_ID:151347580 1307083 Tp73 tumor protein p73 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316062 D RGD:2290588|PMID:15492852 20080320 RGD mRNA:increased expression:kidney 1307083 Tp73 tumor protein p73 gene DOID:3007 breast ductal carcinoma ISO RGD:1316062 D RGD:2290492|PMID:17011986 20080320 RGD mRNA:decreased expression:breast 1307083 Tp73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:lung (human) PMID:30420492|REF_RGD_ID:151347580 1307083 Tp73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1316062 D RGD:151347584|PMID:27246533 20220127 RGD DNA:SNP:: rs2273953(human) 1307083 Tp73 tumor protein p73 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316062 D RGD:151347589|PMID:21965272 20220127 RGD DNA:SNP:intron: (rs3765701) (human) 1307083 Tp73 tumor protein p73 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1316062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245298 1307083 Tp73 tumor protein p73 gene DOID:4362 cervical cancer susceptibility ISO RGD:1316062 D RGD:151347580|PMID:30420492 20220127 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) 1307083 Tp73 tumor protein p73 gene DOID:4450 renal cell carcinoma ISO RGD:1316062 D RGD:2291837|PMID:9796703 20080331 RGD 1307083 Tp73 tumor protein p73 gene DOID:5409 lung small cell carcinoma ISO RGD:1316062 D RGD:151347582|PMID:26168399 20220127 RGD DNA:mutations:multiple: (human) 1307083 Tp73 tumor protein p73 gene DOID:630 genetic disease ISO RGD:1316062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307083 Tp73 tumor protein p73 gene DOID:657 adenoma ISO RGD:1316062 D RGD:151347590|PMID:29945573 20220127 RGD DNA:hypermethylation:promoter: (human) 1307083 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma ISO RGD:1316062 D RGD:151347592|PMID:31429776 20220127 RGD mRNA:increased expression:liver (human) 1307083 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma ISO RGD:1316062 D RGD:151347593|PMID:14760085 20220127 RGD mRNA:increased expression:liver (human) 1307083 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma ISO RGD:1316062 D RGD:151347594|PMID:19664633 20220127 RGD mRNA:increased expression:liver (human) 1307083 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1316062 D RGD:151347579|PMID:27359056 20220127 RGD protein:decreased phosphorylation:liver (human) 1307083 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316062 D RGD:151347596|PMID:25371988 20220127 RGD human cells in a mouse model 1307083 Tp73 tumor protein p73 gene DOID:769 neuroblastoma no_association ISO RGD:1316062 D RGD:1599583|PMID:9288759 20070208 RGD 1307083 Tp73 tumor protein p73 gene DOID:8923 skin melanoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:skin of body (human) PMID:30420492|REF_RGD_ID:151347580 1307083 Tp73 tumor protein p73 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1316062 D RGD:2290589|PMID:11870517 20080320 RGD mRNA:increased expression:uterine cervix 1307083 Tp73 tumor protein p73 gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1316062 D RGD:151347586|PMID:23829175 20220127 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) 1307083 Tp73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:2291833|PMID:11051237 20080331 RGD 1307083 Tp73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:2291834|PMID:10760569 20080331 RGD DNA:loss of heterozygosity:ovary 1307083 Tp73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316062 D RGD:2298530|PMID:12928725 20080708 RGD protein:increased expression:ovary 1307083 Tp73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:2290582|PMID:17504382 20080320 RGD mRNA:increased expression:uterine cervix 1307083 Tp73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:2290589|PMID:11870517 20080320 RGD mRNA, protein:splice variant, increased expression:uterine cervix 1307083 Tp73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1316062 D RGD:2290586|PMID:16818688 20080320 RGD protein:increased expression:uterine cervix 1307083 Tp73 tumor protein p73 gene DOID:9003814 Neurologic Manifestations ISO RGD:1316063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 1307083 Tp73 tumor protein p73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30057029 1307083 Tp73 tumor protein p73 gene DOID:9005172 Lung Neoplasms ISO RGD:1316062 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 1307083 Tp73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:7240710 20210818 OMIM 1307083 Tp73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly PMID:25741868|PMID:34077761 1307083 Tp73 tumor protein p73 gene DOID:9005372 Inflammation ISO RGD:1316062 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 1307083 Tp73 tumor protein p73 gene DOID:9005804 Vulvar Neoplasms ISO RGD:1316062 D RGD:2290590|PMID:11720444 20080320 RGD mRNA, protein:splice variant, increased expression:vulva 1307083 Tp73 tumor protein p73 gene DOID:9006534 Nervous System Malformations ISO RGD:1316063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 1307083 Tp73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1316062 D RGD:2290585|PMID:16928264 20080320 RGD DNA:hypermethylation 1307083 Tp73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1316062 D RGD:2298528|PMID:15723718 20080708 RGD DNA:polymorphism:exon 1307083 Tp73 tumor protein p73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307083 Tp73 tumor protein p73 gene DOID:9008939 Breast Neoplasms ISO RGD:1316062 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 1307083 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:151347588|PMID:14732927 20220127 RGD DNA:deletion:intron:IVS1-489_-417del (human) 1307083 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:151347590|PMID:29945573 20220127 RGD DNA:hypermethylation:promoter: (human) 1307083 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1316062 D RGD:151347587|PMID:31090204 20220127 RGD DNA:SNP:intron:g.3636226T>C (rs747828) (human) 1307083 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316062 D RGD:151347580|PMID:30420492 20220127 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) 1307083 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316062 D RGD:151347581|PMID:21672615 20220127 RGD DNA:SNPs:exon 2:4G>A, 14C>T(rs2273953, rs1801173) (human) 1307084 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:0050436 mulibrey nanism ISO RGD:1316064 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 1307084 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:0050777 Joubert syndrome ISO RGD:1316064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1307084 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:630 genetic disease ISO RGD:1316064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307085 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1307085 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1316066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307085 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1307085 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307087 Rev3l REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1316069 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 1307087 Rev3l REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:630 genetic disease ISO RGD:1316069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307089 Ntng2 netrin G2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307089 Ntng2 netrin G2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316073 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1307089 Ntng2 netrin G2 gene DOID:3312 bipolar disorder ISO RGD:1316073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 1307089 Ntng2 netrin G2 gene DOID:5419 schizophrenia ISO RGD:1316073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 1307089 Ntng2 netrin G2 gene DOID:630 genetic disease ISO RGD:1316073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307089 Ntng2 netrin G2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1316073 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:25741868|PMID:31668703 1307089 Ntng2 netrin G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316073 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31668703 1307089 Ntng2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:7240710 20200115 OMIM 1307089 Ntng2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868|PMID:31372774|PMID:31668703|PMID:31692205 1307089 Ntng2 netrin G2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316073 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1307089 Ntng2 netrin G2 gene DOID:9008086 Developmental Disabilities ISO RGD:1316073 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31372774|PMID:31692205 1307090 Sbf1 SET binding factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28005197|PMID:28492532|PMID:28902413 1307090 Sbf1 SET binding factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310|PMID:30763456 1307090 Sbf1 SET binding factor 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1316075 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1307090 Sbf1 SET binding factor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1316075 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1307090 Sbf1 SET binding factor 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1316075 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1307090 Sbf1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:7240710 20140911 OMIM 1307090 Sbf1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:16199547|PMID:17576681|PMID:21210780|PMID:23749797|PMID:24799518|PMID:25558065|PMID:25741868|PMID:28005197|PMID:28492532|PMID:28902413|PMID:30564305|PMID:31482689|PMID:33726816|PMID:33987933|PMID:34118926|PMID:9536098 1307090 Sbf1 SET binding factor 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:25741868|PMID:28492532 1307090 Sbf1 SET binding factor 1 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1307090 Sbf1 SET binding factor 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1316075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1307090 Sbf1 SET binding factor 1 gene DOID:1059 intellectual disability ISO RGD:1316075 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307090 Sbf1 SET binding factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316075 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21210780|PMID:24799518|PMID:25558065 1307090 Sbf1 SET binding factor 1 gene DOID:10907 microcephaly ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23749797|PMID:25741868|PMID:28492532 1307090 Sbf1 SET binding factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 1307090 Sbf1 SET binding factor 1 gene DOID:630 genetic disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23749797|PMID:25741868|PMID:28492532 1307090 Sbf1 SET binding factor 1 gene DOID:870 neuropathy ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 1307091 Tfb2m transcription factor B2, mitochondrial gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1316077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1307091 Tfb2m transcription factor B2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1316077 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307091 Tfb2m transcription factor B2, mitochondrial gene DOID:630 genetic disease ISO RGD:1316077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307091 Tfb2m transcription factor B2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316077 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307093 Ppef2 protein phosphatase with EF-hand domain 2 gene DOID:630 genetic disease ISO RGD:1316080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307093 Ppef2 protein phosphatase with EF-hand domain 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1307093 Ppef2 protein phosphatase with EF-hand domain 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316080 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1307094 Pds5a PDS5 cohesin associated factor A gene DOID:11725 Cornelia de Lange syndrome ISS RGD:1316082 D RGD:13592920 20180518 MouseDO OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 1307094 Pds5a PDS5 cohesin associated factor A gene DOID:630 genetic disease ISO RGD:1604045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307094 Pds5a PDS5 cohesin associated factor A gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1307094 Pds5a PDS5 cohesin associated factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604045 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1307094 Pds5a PDS5 cohesin associated factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604045 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1307095 Rab5c RAB5C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1316083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307096 Nat9 N-acetyltransferase 9 gene DOID:630 genetic disease ISO RGD:1606805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1316086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0060041 autism spectrum disorder ISS RGD:1316087 D RGD:13592920 20190516 MouseDO 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316086 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:7240710 20190315 OMIM 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant PMID:25741868|PMID:27008544|PMID:31327001 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1316086 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1316086 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:10907 microcephaly ISO RGD:1316086 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1316086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32641753 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9003816 Macrocephaly ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:31327001 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316086 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27008544|PMID:31327001 1307097 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316086 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316088 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:1824 status epilepticus IEP D RGD:40902837|PMID:31415741 20201214 RGD mRNA, protein:decreased expression:white matter of cerebral lobe 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:630 genetic disease ISO RGD:1316088 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11337472|PMID:27479843 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:40902844|PMID:22173726 20201214 RGD 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316089 D RGD:40902836|PMID:28452182 20201214 RGD 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316088 D RGD:40902824|PMID:27340107 20201211 RGD associated with breast cancer 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IEP D RGD:40902863|PMID:29682587 20201215 RGD 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1316089 D RGD:40902822|PMID:24941845 20201211 RGD 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316088 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9009105 HIV Encephalitis ISO RGD:1316088 D RGD:40902823|PMID:15579294 20201211 RGD 1307098 Olig2 oligodendrocyte transcription factor 2 gene DOID:9790 toxocariasis ISO RGD:1316089 D RGD:40902825|PMID:25773181 20201211 RGD 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1316090 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:30311386 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:7240710 20130425 OMIM 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:10769282|PMID:11159937|PMID:15735644|PMID:16199547|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25242383|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25961296|PMID:25963406|PMID:26084686|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28767663|PMID:28798025|PMID:28831623|PMID:29030401|PMID:30123251|PMID:30165862|PMID:30311386|PMID:30828794|PMID:31163360|PMID:32107406|PMID:32277154|PMID:33745059|PMID:34426522|PMID:9536098 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:7240710 20130221 OMIM 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders PMID:11159937|PMID:15735644|PMID:16199547|PMID:17567890|PMID:17568404|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25963406|PMID:27068579|PMID:28492532|PMID:28798025|PMID:29030401|PMID:30165862|PMID:30828794|PMID:32107406|PMID:32277154|PMID:33745059|PMID:35802133|PMID:36633841|PMID:9536098 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1316090 D RGD:1598455|PMID:15735644 20061129 RGD DNA:deletion:introns, exon (human) 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10754 otitis media ISS RGD:1316091 D RGD:13592920 20180518 MouseDO OMIM:166760 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316090 D RGD:1598455|PMID:15735644 20061129 RGD DNA:deletion:introns, exon (human) 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316090 D RGD:8554872 20160607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10769282|PMID:15735644|PMID:17567890|PMID:24033266 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:2661 myoepithelioma ISO RGD:1316090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:24033266|PMID:25741868|PMID:28492532 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:6000 congestive heart failure ISO RGD:1316090 D RGD:1598455|PMID:15735644 20061129 RGD DNA:deletion:introns, exon (human) 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:6000 congestive heart failure ISO RGD:1316090 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:630 genetic disease ISO RGD:1316090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316090 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:31333075|PMID:31568572 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9004538 Hearing Loss ISO RGD:1316090 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1316090 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 1307099 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344341 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:7240710 20190315 OMIM 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome PMID:25558065|PMID:25741868|PMID:29290337 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:11836 clubfoot ISO RGD:1344341 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868|PMID:29290337|PMID:31680349 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:14766 renal agenesis ISO RGD:1344341 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:29290337|PMID:31680349 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1344341 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25558065 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:630 genetic disease ISO RGD:1344341 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1344341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1307100 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344341 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307101 Lmo2 LIM domain only 2 gene DOID:0080600 COVID-19 ISO RGD:1316093 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307101 Lmo2 LIM domain only 2 gene DOID:1059 intellectual disability ISO RGD:1316093 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307101 Lmo2 LIM domain only 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316093 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 1307101 Lmo2 LIM domain only 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316093 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:2034676 1307101 Lmo2 LIM domain only 2 gene DOID:630 genetic disease ISO RGD:1316093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307101 Lmo2 LIM domain only 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307101 Lmo2 LIM domain only 2 gene DOID:9952 acute lymphoblastic leukemia ISS RGD:1316094 D RGD:13592920 20180518 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:0110411 retinitis pigmentosa 60 ISO RGD:1316097 D RGD:7240710 20140911 OMIM 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:0110411 retinitis pigmentosa 60 ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 60 PMID:21549338|PMID:25741868|PMID:28492532 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1316097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316097 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:630 genetic disease ISO RGD:1316097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307103 Prpf6 pre-mRNA processing factor 6 gene DOID:8501 fundus dystrophy ISO RGD:1316097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25356976|PMID:28492532|PMID:9536098 1307105 Klhdc3 kelch domain containing 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1307105 Klhdc3 kelch domain containing 3 gene DOID:630 genetic disease ISO RGD:1316101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307105 Klhdc3 kelch domain containing 3 gene DOID:905 Zellweger syndrome ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1307106 Ankrd27 ankyrin repeat domain 27 gene DOID:13922 eosinophilic esophagitis ISO RGD:1316102 D RGD:11100048|PMID:25407941 20190730 RGD DNA:SNPs:intron: (rs3815700, rs10410895) (human) 1307106 Ankrd27 ankyrin repeat domain 27 gene DOID:630 genetic disease ISO RGD:1316102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307107 Pigz phosphatidylinositol glycan anchor biosynthesis, class Z gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1307107 Pigz phosphatidylinositol glycan anchor biosynthesis, class Z gene DOID:12849 autistic disorder ISO RGD:1602097 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307107 Pigz phosphatidylinositol glycan anchor biosynthesis, class Z gene DOID:5419 schizophrenia ISO RGD:1602097 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307107 Pigz phosphatidylinositol glycan anchor biosynthesis, class Z gene DOID:630 genetic disease ISO RGD:1602097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307108 Pwwp2b PWWP domain containing 2B gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316105 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1307108 Pwwp2b PWWP domain containing 2B gene DOID:11612 polycystic ovary syndrome ISO RGD:1316105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307108 Pwwp2b PWWP domain containing 2B gene DOID:630 genetic disease ISO RGD:1316105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0050700 cardiomyopathy ISO RGD:1316107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20819849|PMID:22200994|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28492532 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:7240710 20190315 OMIM 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID:11220739|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31411514 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1316107 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:22200994|PMID:25741868|PMID:28492532|PMID:9536098 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:1316107 D RGD:1600573|PMID:11220739 20081215 RGD associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316107 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:2377 multiple sclerosis ISO RGD:1316107 D RGD:6482255|PMID:18682780 20120420 RGD 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:3652 Leigh disease ISO RGD:1316107 D RGD:6482269|PMID:20819849 20120423 RGD DNA:missense mutation:cds:p.M292T (human) 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:630 genetic disease ISO RGD:1316107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28050010|PMID:28492532 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:655 inherited metabolic disorder ISO RGD:1316107 D RGD:1600573|PMID:11220739 20070315 RGD mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1316107 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25741868 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1316107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6484699|PMID:20876714 20120702 RGD protein:decreased expression:dorsal root ganglia (rat) 1307109 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316107 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307110 Ftsj3 FtsJ RNA 2'-O-methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1316109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307111 Aspm assembly factor for spindle microtubules gene DOID:0050453 lissencephaly ISO RGD:1316111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532 1307111 Aspm assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:7240710 20141015 OMIM 1307111 Aspm assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:11067780|PMID:12355089|PMID:14574646|PMID:15355437|PMID:16141009|PMID:16199547|PMID:16673149|PMID:17576681|PMID:17849285|PMID:18414213|PMID:18452193|PMID:19028728|PMID:19332161|PMID:19353628|PMID:19770472|PMID:20301772|PMID:20679666|PMID:20978018|PMID:22823409|PMID:22989186|PMID:23611254|PMID:24033266|PMID:25480035|PMID:25525159|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28004384|PMID:28492532|PMID:28554332|PMID:29243349|PMID:29522511|PMID:29644084|PMID:29706646|PMID:30167849|PMID:30842647|PMID:31680123|PMID:31696992|PMID:31853109|PMID:31934343|PMID:31980526|PMID:32404165|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 1307111 Aspm assembly factor for spindle microtubules gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26548919|PMID:26691732|PMID:26846091|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213 1307111 Aspm assembly factor for spindle microtubules gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1316111 D RGD:13442485|PMID:19770472 20171103 RGD DNA:mutations: : 1307111 Aspm assembly factor for spindle microtubules gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1316111 D RGD:13442486|PMID:18452193 20171103 RGD DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human) 1307111 Aspm assembly factor for spindle microtubules gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:15355437|PMID:16199547|PMID:18414213|PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30842647|PMID:31980526 1307111 Aspm assembly factor for spindle microtubules gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1307111 Aspm assembly factor for spindle microtubules gene DOID:0080600 COVID-19 ISO RGD:1316111 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307111 Aspm assembly factor for spindle microtubules gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1316111 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 1307111 Aspm assembly factor for spindle microtubules gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316111 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1307111 Aspm assembly factor for spindle microtubules gene DOID:10534 stomach cancer ISO RGD:1316111 D RGD:13439749|PMID:26178168 20171017 RGD mRNA,protein:increased expression:stomach: 1307111 Aspm assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 1307111 Aspm assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 1307111 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly ISO RGD:1316111 D RGD:13439741|PMID:19808985 20171016 RGD DNA:mutations:multiple: 1307111 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30842647 1307111 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly ISO RGD:1619289 D RGD:13439744|PMID:20823249 20171016 RGD 1307111 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly ISS RGD:1619289 D RGD:13592920 20180518 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 1307111 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly susceptibility ISO RGD:1316111 D RGD:1599300|PMID:16141009 20070129 RGD 1307111 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly treatment ISO RGD:1316111 D RGD:13439744|PMID:20823249 20171016 RGD 1307111 Aspm assembly factor for spindle microtubules gene DOID:11612 polycystic ovary syndrome ISO RGD:1316111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307111 Aspm assembly factor for spindle microtubules gene DOID:11832 visual epilepsy susceptibility ISO RGD:1316111 D RGD:1599300|PMID:16141009 20070129 RGD 1307111 Aspm assembly factor for spindle microtubules gene DOID:14687 diastrophic dysplasia ISO RGD:1316111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia PMID:25741868 1307111 Aspm assembly factor for spindle microtubules gene DOID:1540 parathyroid carcinoma ISO RGD:1316111 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307111 Aspm assembly factor for spindle microtubules gene DOID:2152 ovary epithelial cancer ISO RGD:1316111 D RGD:13204746|PMID:24830737 20170718 RGD protein:altered expression:ovary, cytoplasm 1307111 Aspm assembly factor for spindle microtubules gene DOID:3068 glioblastoma ISO RGD:1316111 D RGD:13439742|PMID:18636190 20171016 RGD mRNA:increased expression:brain: 1307111 Aspm assembly factor for spindle microtubules gene DOID:3070 high grade glioma disease_progression ISO RGD:1316111 D RGD:13442488|PMID:20142996 20171103 RGD mRNA:increased expression:brain: 1307111 Aspm assembly factor for spindle microtubules gene DOID:630 genetic disease ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574646|PMID:17576681|PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 1307111 Aspm assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma ISO RGD:1316111 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307111 Aspm assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316111 D RGD:13439743|PMID:18676753 20171016 RGD 1307111 Aspm assembly factor for spindle microtubules gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1307111 Aspm assembly factor for spindle microtubules gene DOID:9006534 Nervous System Malformations ISO RGD:1316111 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1307111 Aspm assembly factor for spindle microtubules gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316111 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307112 Fignl1 fidgetin-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316113 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307112 Fignl1 fidgetin-like 1 gene DOID:630 genetic disease ISO RGD:1316113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307112 Fignl1 fidgetin-like 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316113 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 1307113 Zfand3 zinc finger AN1-type containing 3 gene DOID:630 genetic disease ISO RGD:1316115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307113 Zfand3 zinc finger AN1-type containing 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1307113 Zfand3 zinc finger AN1-type containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 1307114 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:7240710 20190315 OMIM 1307114 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 PMID:22200994|PMID:25741868|PMID:28492532 1307114 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316117 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1307114 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:630 genetic disease ISO RGD:1316117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307114 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:9004657 Weight Gain ISO RGD:1316117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1307115 Cenpe centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:7240710 20170405 OMIM 1307115 Cenpe centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive PMID:24748105|PMID:25741868 1307115 Cenpe centromere protein E gene DOID:12849 autistic disorder ISO RGD:1316119 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Autism 1307115 Cenpe centromere protein E gene DOID:3633 beta-mannosidosis ISO RGD:1316119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1307115 Cenpe centromere protein E gene DOID:630 genetic disease ISO RGD:1316119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307115 Cenpe centromere protein E gene DOID:684 hepatocellular carcinoma ISO RGD:1316119 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307118 Tmem42 transmembrane protein 42 gene DOID:630 genetic disease ISO RGD:1348470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307119 Notum NOTUM, palmitoleoyl-protein carboxylesterase gene DOID:0060041 autism spectrum disorder ISO RGD:1606450 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1307119 Notum NOTUM, palmitoleoyl-protein carboxylesterase gene DOID:630 genetic disease ISO RGD:1606450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1316126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:10652 Alzheimer's disease ISO RGD:1316126 D RGD:10448959|PMID:24023061 20151209 RGD protein:increased expression:cerebral cortex (human) 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:150 disease of mental health ISO RGD:1316126 D RGD:10448939|PMID:22454191 20151208 RGD associated with Lupus Erythematosus, Systemic 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:630 genetic disease ISO RGD:1316126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1316126 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316126 D RGD:10448939|PMID:22454191 20151208 RGD 1307120 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316127 D RGD:10448935|PMID:10940910 20151208 RGD 1307121 Lrrc4b leucine rich repeat containing 4B gene DOID:630 genetic disease ISO RGD:1316128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307122 Zc2hc1c zinc finger, C2HC-type containing 1C gene DOID:1059 intellectual disability ISO RGD:1316129 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307122 Zc2hc1c zinc finger, C2HC-type containing 1C gene DOID:630 genetic disease ISO RGD:1316129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307124 Ankrd52 ankyrin repeat domain 52 gene DOID:630 genetic disease ISO RGD:1601705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1316133 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1316133 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1316133 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316133 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1307125 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:630 genetic disease ISO RGD:1316133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307126 Hist1h2bd histone cluster 1 H2B family member D gene DOID:630 genetic disease ISO RGD:1316135 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307127 Trmt12 tRNA methyltransferase 12 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605990 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1307127 Trmt12 tRNA methyltransferase 12 gene DOID:630 genetic disease ISO RGD:1605990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307128 Lrrc57 leucine rich repeat containing 57 gene DOID:2717 Bloom syndrome ISO RGD:1602825 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307128 Lrrc57 leucine rich repeat containing 57 gene DOID:630 genetic disease ISO RGD:1602825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307128 Lrrc57 leucine rich repeat containing 57 gene DOID:9256 colorectal cancer ISO RGD:1602825 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307129 Prr13 proline rich 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21157449 1307129 Prr13 proline rich 13 gene DOID:630 genetic disease ISO RGD:1604010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307129 Prr13 proline rich 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307129 Prr13 proline rich 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604010 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307131 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1316142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1307131 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1316142 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:29395073 1307131 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:630 genetic disease ISO RGD:1316142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307131 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:7240710 20190315 OMIM 1307131 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 PMID:25741868|PMID:28492532|PMID:29395073 1307132 Slco5a1 solute carrier organic anion transporter family, member 5A1 gene DOID:630 genetic disease ISO RGD:1316144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307133 Lamtor3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 gene DOID:630 genetic disease ISO RGD:1316146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307134 Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:630 genetic disease ISO RGD:1316148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307136 Zfp367 zinc finger protein 367 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1316151 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 1307136 Zfp367 zinc finger protein 367 gene DOID:1059 intellectual disability ISO RGD:1316151 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307136 Zfp367 zinc finger protein 367 gene DOID:630 genetic disease ISO RGD:1316151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307136 Zfp367 zinc finger protein 367 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316151 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 1307136 Zfp367 zinc finger protein 367 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316151 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 1307137 Shc2 SHC adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1350366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:7240710 20130221 OMIM 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia PMID:18408718|PMID:18596229|PMID:19357398|PMID:19592582|PMID:19818657|PMID:20719010|PMID:23319530|PMID:25156943|PMID:25588876|PMID:25741868|PMID:25873000|PMID:27365303|PMID:27643674|PMID:28492532|PMID:32581362 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:11758 iron deficiency anemia ISO RGD:1316154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18408718|PMID:22169218 1307138 Tmprss6 transmembrane serine protease 6 gene DOID:630 genetic disease ISO RGD:1316154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1316156 D RGD:1598912|PMID:16947863 20061221 RGD 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1316156 D RGD:7246919|PMID:22824526 20130626 RGD 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:16199547|PMID:16550608|PMID:16947863|PMID:17576681|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26023681|PMID:26556299|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32427313|PMID:32496904|PMID:33780288|PMID:9536098 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:7240710 20130425 OMIM 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group B PMID:16947863|PMID:2167179|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:26556299|PMID:26884178|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29376097|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31541171|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:4811796|PMID:8304337|PMID:8408834|PMID:8663148 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1316156 D RGD:13207496|PMID:9012405 20130626 RGD DNA:missense mutation:cds:p.T119P (human) 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:13207496|PMID:9012405 20170919 RGD DNA:missense mutation:cds:p.T119P (human) 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:7240710 20170920 OMIM 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive PMID:24728327|PMID:25741868|PMID:27153395|PMID:28259476|PMID:28492532|PMID:30306255|PMID:30414346|PMID:31664448|PMID:31874108|PMID:32295625|PMID:9012405 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1316156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1316156 D RGD:5688738|PMID:9714461 20150924 RGD protein:increased expression:brain 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum IEP D RGD:2302855|PMID:9763211 20150924 RGD mRNA:decreased expression:brain 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1316156 D RGD:13207452|PMID:10328528 20150924 RGD mRNA:increased expression:brain (human) 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1316157 D RGD:10401087|PMID:19114557 20150924 RGD 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316156 D RGD:11098167|PMID:25069034 20170801 RGD DNA:snp:intron:c.2064+741T>C (rs3738948) (human) 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:574 peripheral nervous system disease ISO RGD:1316156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1316156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16550608|PMID:16947863|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26884178|PMID:28492532|PMID:29376097 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1316156 D RGD:13207447|PMID:16835333 20170801 RGD DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G, (rs2271026, rs4150441) (human) 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1316156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 1307139 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1316156 D RGD:155260343|PMID:16951227 20221004 RGD mRNA:increased expression:colorectum (human) 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:7240710 20130221 OMIM 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:18077166|PMID:19132419|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32399692|PMID:32581362|PMID:34059824|PMID:34459874|PMID:34986032|PMID:8673084|PMID:9536098 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16199547|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24088041|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26681808|PMID:28492532|PMID:30373780|PMID:30420926|PMID:31509666|PMID:31742231|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084|PMID:9536098 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28166811|PMID:28492532|PMID:31509666|PMID:32376792|PMID:32581362 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:10907 microcephaly ISO RGD:1315336 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:34059824 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:630 genetic disease ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11242106|PMID:11242114|PMID:12417569|PMID:13646503|PMID:15037712|PMID:15546589|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26681808|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:34103343|PMID:34986032|PMID:8673084 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:9005364 Amyotrophic Lateral Sclerosis Type 27 ISO RGD:1315336 D RGD:7240710 20230505 OMIM 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:9005364 Amyotrophic Lateral Sclerosis Type 27 ISO RGD:1315336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile PMID:19651702|PMID:21618344|PMID:23454272|PMID:24247255|PMID:25741868|PMID:26681808|PMID:28492532|PMID:34059824|PMID:34459874|PMID:36204986 1307140 Sptlc1 serine palmitoyltransferase, long chain base subunit 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:1315336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:11242106|PMID:11242114|PMID:11479835|PMID:14152213|PMID:14990347|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19923297|PMID:20301564|PMID:20504773|PMID:22302274|PMID:25741868|PMID:26681808|PMID:28492532|PMID:32581362 1307142 Pls1 plastin 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment PMID:30872814|PMID:31397523 1307142 Pls1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:7240710 20200318 OMIM 1307142 Pls1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 76 PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 1307142 Pls1 plastin 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1316159 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:31397523 1307142 Pls1 plastin 1 gene DOID:630 genetic disease ISO RGD:1316159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307142 Pls1 plastin 1 gene DOID:9004538 Hearing Loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 1307142 Pls1 plastin 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316159 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 1307143 Zbtb17 zinc finger and BTB domain containing 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347626 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307143 Zbtb17 zinc finger and BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:1347626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316162 D RGD:9684941|PMID:21965755 20141210 RGD protein:increased expression:breast: 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1316162 D RGD:9684940|PMID:19528090 20141210 RGD 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome ISO RGD:1316162 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome ISO RGD:1316162 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GAPO syndrome PMID:23602711|PMID:24033266|PMID:25045128|PMID:25741868|PMID:28492532|PMID:9180938|PMID:9298746 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome ISO RGD:1316162 D RGD:9684854|PMID:23602711 20141209 RGD DNA:missense mutations:cds:c.505C>T,c.262C>T (human) 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome susceptibility ISO RGD:1316162 D RGD:7240710 20230505 OMIM 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1316162 D RGD:9684946|PMID:17016666 20141210 RGD mRNA:increased expression:breast: 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1316162 D RGD:9684943|PMID:21545221 20141210 RGD 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1316162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28655553|PMID:29436111 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316163 D RGD:9684932|PMID:20650339 20141210 RGD 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316162 D RGD:9684855|PMID:22085271 20141210 RGD associated with Mammary Neoplasms, Experimental; 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma ISO RGD:1316163 D RGD:9684925|PMID:19622764 20141210 RGD 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1316162 D RGD:9684939|PMID:19609240 20141210 RGD 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1316162 D RGD:9684855|PMID:22085271 20141210 RGD 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1316162 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1316162 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:18931684 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:1316162 D RGD:7240710 20230505 OMIM 1307144 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9256 colorectal cancer ISO RGD:1316162 D RGD:9684945|PMID:21573768 20141210 RGD mRNA:increased expression:blood: 1307145 Ppp6r3 protein phosphatase 6, regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1316164 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307145 Ppp6r3 protein phosphatase 6, regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1316164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307145 Ppp6r3 protein phosphatase 6, regulatory subunit 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1307145 Ppp6r3 protein phosphatase 6, regulatory subunit 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1307146 Dusp22 dual specificity phosphatase 22 gene DOID:13938 amenorrhea ISO RGD:1316166 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1307146 Dusp22 dual specificity phosphatase 22 gene DOID:630 genetic disease ISO RGD:1316166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307147 Mrpl2 mitochondrial ribosomal protein L2 gene DOID:0050444 infantile Refsum disease ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1307147 Mrpl2 mitochondrial ribosomal protein L2 gene DOID:630 genetic disease ISO RGD:1316168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307147 Mrpl2 mitochondrial ribosomal protein L2 gene DOID:905 Zellweger syndrome ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0050560 Walker-Warburg syndrome ISS RGD:1316171 D RGD:13592920 20180518 MouseDO OMIM:236670 | OMIM:253280 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0060263 porencephaly ISO RGD:1316170 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:607595|PMID:23225343 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0060263 porencephaly ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY | ClinVar Annotator: match by term: Hemiplegia, infantile, with porencephaly | ClinVar Annotator: match by term: Porencephaly PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25719457|PMID:25741868|PMID:26310487|PMID:26362372|PMID:26467025|PMID:28492532|PMID:29602769|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32515830|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316170 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:17078022|PMID:19344236|PMID:25590979|PMID:25741868|PMID:28492532|PMID:30181649|PMID:32499604|PMID:7695699|PMID:8218237|PMID:9016532 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0080205 CAKUT ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:31230195 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:7240710 20190515 OMIM 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25590979|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30181649|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32499604|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:7240710 20160601 OMIM 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of PMID:17576681|PMID:20818663|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0112313 brain small vessel disease ISO RGD:1316170 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:16598045|PMID:17696175 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1316170 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Porencephaly 2 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1316170 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:1316170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1316170 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:17696175|PMID:20385946 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:1969 cerebral palsy ISO RGD:1316170 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:2222 factor X deficiency ISO RGD:1316170 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:557 kidney disease ISS RGD:1316171 D RGD:13592920 20180518 MouseDO 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:583 hemolytic anemia ISO RGD:1316170 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:23225343 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316170 D RGD:2311341|PMID:18077766 20090708 RGD DNA:polymorphism: :p.Q1334H (human) 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:2211826|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28492532|PMID:29801666|PMID:31051113|PMID:31230195|PMID:33353976|PMID:33527515|PMID:3691802|PMID:6428250|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:6432 pulmonary hypertension treatment IEP D RGD:11041577|PMID:25867313 20160324 RGD 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:784 chronic kidney disease ISO RGD:1316170 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:83 cataract ISO RGD:1316170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17696175|PMID:20301768|PMID:25741868 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:8725 vascular dementia ISO RGD:1316170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316170 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:27997345 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:2311340|PMID:19466391 20090708 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:2311342|PMID:17582205 20090708 RGD associated with Diabetes Mellitus, Experimental 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:7240710 20191016 OMIM 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:15221337|PMID:17576681|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25425218|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27666438|PMID:28369186|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:906807|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:16598045 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:7240710 20230505 OMIM 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to PMID:16159887|PMID:17576681|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170|RGD:1316171 D RGD:1581204|PMID:16598045 19990101 RGD 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002704 Leukoencephalopathies ISO RGD:1316170 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1316170 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316170|RGD:1316171 D RGD:1581204|PMID:16598045 19990101 RGD 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:7240710 20130221 OMIM 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome PMID:16159887|PMID:17030722|PMID:17078022|PMID:17576681|PMID:18077766|PMID:18160688|PMID:1867713|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:20818663|PMID:21527998|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27794444|PMID:28492532|PMID:29602769|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31915071|PMID:31922066|PMID:33353976|PMID:33527515|PMID:33532864|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9006637 Schizencephaly ISO RGD:1316170 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:23225343 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9006637 Schizencephaly ISO RGD:1316170 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: SCHIZENCEPHALY PMID:25741868|PMID:28492532 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9007096 Stroke ISO RGD:1316170 D RGD:1581205|PMID:16374828 19990101 RGD 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9008296 Eye Abnormalities ISO RGD:1316170 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 1307148 Col4a1 collagen type IV alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1316170 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1307149 Colec10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:7240710 20190315 OMIM 1307149 Colec10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 3MC syndrome 3 PMID:25741868|PMID:28301481 1307149 Colec10 collectin subfamily member 10 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316172 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1307149 Colec10 collectin subfamily member 10 gene DOID:206 hereditary multiple exostoses ISO RGD:1316172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 1307149 Colec10 collectin subfamily member 10 gene DOID:630 genetic disease ISO RGD:1316172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307149 Colec10 collectin subfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1316172 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307149 Colec10 collectin subfamily member 10 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1316172 D RGD:8554872 20150811 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406 1307150 Spink8 serine peptidase inhibitor, Kazal type 8 gene DOID:630 genetic disease ISO RGD:1606051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307150 Spink8 serine peptidase inhibitor, Kazal type 8 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1307151 Plekhm3 pleckstrin homology domain containing M3 gene DOID:14557 primary pulmonary hypertension ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1307151 Plekhm3 pleckstrin homology domain containing M3 gene DOID:630 genetic disease ISO RGD:2292191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307151 Plekhm3 pleckstrin homology domain containing M3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2292191 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307153 Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 gene DOID:10283 prostate cancer ISO RGD:1604291 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307153 Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 gene DOID:2717 Bloom syndrome ISO RGD:1604291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307153 Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 gene DOID:630 genetic disease ISO RGD:1604291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307153 Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 gene DOID:9256 colorectal cancer ISO RGD:1604291 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307154 Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:1909 melanoma ISO RGD:1316177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 1307154 Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:630 genetic disease ISO RGD:1316177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307155 Mettl26 methyltransferase like 26 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1307155 Mettl26 methyltransferase like 26 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1307155 Mettl26 methyltransferase like 26 gene DOID:1826 epilepsy ISO RGD:1603944 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307155 Mettl26 methyltransferase like 26 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603944 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307155 Mettl26 methyltransferase like 26 gene DOID:630 genetic disease ISO RGD:1603944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1316180 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25417052 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:7240710 20140911 OMIM 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder PMID:16199547|PMID:23636107|PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28327575|PMID:28492532|PMID:28728837|PMID:30813157|PMID:30976099|PMID:32220244|PMID:32404165|PMID:32581362|PMID:32725661|PMID:34046058 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:1826 epilepsy ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:2234 focal epilepsy ISO RGD:1316180 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:630 genetic disease ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25943031|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1316180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:9002189 High Myopia ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1316180 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:9008086 Developmental Disabilities ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:7240710 20140911 OMIM 1307156 Pigt phosphatidylinositol glycan anchor biosynthesis, class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 PMID:23733340|PMID:25741868|PMID:28492532 1307157 Prtg protogenin gene DOID:12849 autistic disorder ISO RGD:1606409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1307157 Prtg protogenin gene DOID:2717 Bloom syndrome ISO RGD:1606409 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307157 Prtg protogenin gene DOID:630 genetic disease ISO RGD:1606409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307157 Prtg protogenin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307157 Prtg protogenin gene DOID:9256 colorectal cancer ISO RGD:1606409 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307158 Ccdc186 coiled-coil domain containing 186 gene DOID:630 genetic disease ISO RGD:1316183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307158 Ccdc186 coiled-coil domain containing 186 gene DOID:6420 pulmonary valve stenosis ISO RGD:1316183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:33259146 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:1316185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1316185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1316185 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:1059 intellectual disability ISO RGD:1316185 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:2746 glycogen storage disease V ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:7240710 20220316 OMIM 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia PMID:34344887|PMID:7811205 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1316185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:630 genetic disease ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:8923 skin melanoma ISO RGD:1316185 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1316185 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 1307159 Sf3b2 splicing factor 3b, subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:26619011 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:7240710 20211110 OMIM 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG PMID:25741868|PMID:28492532|PMID:32937143 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110249 cataract 11 multiple types ISO RGD:1316187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:7319 axonal neuropathy ISO RGD:1316187 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Motor axonal neuropathy PMID:32937143 1307160 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:1316187 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 1307161 Brox BRO1 domain and CAAX motif containing gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606705 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1307161 Brox BRO1 domain and CAAX motif containing gene DOID:1540 parathyroid carcinoma ISO RGD:1606705 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307161 Brox BRO1 domain and CAAX motif containing gene DOID:630 genetic disease ISO RGD:1606705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307161 Brox BRO1 domain and CAAX motif containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606705 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307162 Ms4a12 membrane spanning 4-domains A12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1307162 Ms4a12 membrane spanning 4-domains A12 gene DOID:1059 intellectual disability ISO RGD:1316189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307162 Ms4a12 membrane spanning 4-domains A12 gene DOID:630 genetic disease ISO RGD:1316189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307163 Glyat glycine-N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:1316190 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307163 Glyat glycine-N-acyltransferase gene DOID:630 genetic disease ISO RGD:1316190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307165 H2ac18 H2A clustered histone 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1316194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307165 H2ac18 H2A clustered histone 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316194 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307166 Klhl23 kelch-like family member 23 gene DOID:630 genetic disease ISO RGD:1605864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307167 Trerf1 transcriptional regulating factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1307167 Trerf1 transcriptional regulating factor 1 gene DOID:630 genetic disease ISO RGD:1316196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307167 Trerf1 transcriptional regulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316196 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 1307167 Trerf1 transcriptional regulating factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1307168 Leprotl1 leptin receptor overlapping transcript-like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316198 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307168 Leprotl1 leptin receptor overlapping transcript-like 1 gene DOID:630 genetic disease ISO RGD:1316198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307169 Cdh19 cadherin 19 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316200 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1307169 Cdh19 cadherin 19 gene DOID:630 genetic disease ISO RGD:1316200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307169 Cdh19 cadherin 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316200 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307172 Got1l1 glutamic-oxaloacetic transaminase 1-like 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1307172 Got1l1 glutamic-oxaloacetic transaminase 1-like 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1307172 Got1l1 glutamic-oxaloacetic transaminase 1-like 1 gene DOID:607 paraplegia ISO RGD:1602185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1307172 Got1l1 glutamic-oxaloacetic transaminase 1-like 1 gene DOID:630 genetic disease ISO RGD:1602185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307173 Fam118b family with sequence similarity 118, member B gene DOID:0110877 holoprosencephaly 11 ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1307173 Fam118b family with sequence similarity 118, member B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603013 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1307173 Fam118b family with sequence similarity 118, member B gene DOID:5419 schizophrenia ISO RGD:1603013 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307173 Fam118b family with sequence similarity 118, member B gene DOID:630 genetic disease ISO RGD:1603013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307173 Fam118b family with sequence similarity 118, member B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603013 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307173 Fam118b family with sequence similarity 118, member B gene DOID:9007661 Dwarfism ISO RGD:1603013 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28642621|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316207 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:10283 prostate cancer ISO RGD:1316207 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:11162 respiratory failure ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:12120 pulmonary alveolar proteinosis ISS RGD:1316208 D RGD:13592920 20180518 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:1682 congenital heart disease ISO RGD:1316207 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:1826 epilepsy ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316207 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:2871 endometrial carcinoma ISO RGD:1316207 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:3082 interstitial lung disease ISO RGD:1316207 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1316207 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:5641 diffuse pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1316207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1316207 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:7240710 20150114 OMIM 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:17517255|PMID:17597647|PMID:17719949|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:20371530|PMID:20656946|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25406294|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:27670912|PMID:28034695|PMID:28492532|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:33526094|PMID:33526882|PMID:34132118|PMID:7374344 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1316207 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9002884 Emphysema ISO RGD:1316207 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:16959783|PMID:17429902|PMID:17517255|PMID:17597647|PMID:17660803|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:19647838|PMID:20371530|PMID:20656946|PMID:21189475|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28602350|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:33526094|PMID:33526882|PMID:34132118|PMID:7374344 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9006458 Congenital Pulmonary Lymphangiectasia ISO RGD:1316207 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Pulmonary lymphangiectasia PMID:25741868 1307174 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1307175 Zmynd12 zinc finger, MYND-type containing 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316209 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307175 Zmynd12 zinc finger, MYND-type containing 12 gene DOID:630 genetic disease ISO RGD:1316209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307176 Dpt dermatopontin gene DOID:10003 sensorineural hearing loss ISO RGD:1316210 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 1307176 Dpt dermatopontin gene DOID:1540 parathyroid carcinoma ISO RGD:1316210 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307176 Dpt dermatopontin gene DOID:630 genetic disease ISO RGD:1316210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307176 Dpt dermatopontin gene DOID:799 varicose veins ISO RGD:1316210 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 1307176 Dpt dermatopontin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316210 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307177 Jakmip3 janus kinase and microtubule interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316212 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1307177 Jakmip3 janus kinase and microtubule interacting protein 3 gene DOID:630 genetic disease ISO RGD:1316212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307179 Utp23 UTP23, small subunit processome component gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1601941 D RGD:11041896|PMID:26553438 20160401 RGD DNA:missense mutation:cds:p.P215Q (rs16888728) (human) 1307179 Utp23 UTP23, small subunit processome component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 1307179 Utp23 UTP23, small subunit processome component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1601941 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1307179 Utp23 UTP23, small subunit processome component gene DOID:206 hereditary multiple exostoses ISO RGD:1601941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 1307179 Utp23 UTP23, small subunit processome component gene DOID:630 genetic disease ISO RGD:1601941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307180 Fhl3 four and a half LIM domains 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316216 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307180 Fhl3 four and a half LIM domains 3 gene DOID:630 genetic disease ISO RGD:1316216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307180 Fhl3 four and a half LIM domains 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316216 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1307181 Npas3 neuronal PAS domain protein 3 gene DOID:5419 schizophrenia ISO RGD:1316218 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307181 Npas3 neuronal PAS domain protein 3 gene DOID:630 genetic disease ISO RGD:1316218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307181 Npas3 neuronal PAS domain protein 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307183 Slc35b3 solute carrier family 35 member B3 gene DOID:630 genetic disease ISO RGD:1316221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316223 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1316223 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1316223 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316223 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1316223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307184 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307185 Cbarp CACN subunit beta associated regulatory protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1307185 Cbarp CACN subunit beta associated regulatory protein gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316225 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome 1307185 Cbarp CACN subunit beta associated regulatory protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1307185 Cbarp CACN subunit beta associated regulatory protein gene DOID:630 genetic disease ISO RGD:1316225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307186 Jmjd4 jumonji domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1607006 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307186 Jmjd4 jumonji domain containing 4 gene DOID:630 genetic disease ISO RGD:1607006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307186 Jmjd4 jumonji domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607006 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307187 Nek9 NIMA-related kinase 9 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1316228 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:25741868 1307187 Nek9 NIMA-related kinase 9 gene DOID:10283 prostate cancer ISO RGD:1316228 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307187 Nek9 NIMA-related kinase 9 gene DOID:1059 intellectual disability ISO RGD:1316228 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307187 Nek9 NIMA-related kinase 9 gene DOID:630 genetic disease ISO RGD:1316228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31131953 1307187 Nek9 NIMA-related kinase 9 gene DOID:674 cleft palate ISO RGD:1316228 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cleft palate 1307187 Nek9 NIMA-related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:7240710 20190315 OMIM 1307187 Nek9 NIMA-related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 PMID:25741868|PMID:26908619 1307187 Nek9 NIMA-related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:7240710 20190315 OMIM 1307187 Nek9 NIMA-related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy PMID:25741868|PMID:26633546|PMID:28492532 1307187 Nek9 NIMA-related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:7240710 20190315 OMIM 1307187 Nek9 NIMA-related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:8554872 20170404 ClinVar ClinVar Annotator: match by term: Nevus comedonicus PMID:27153399 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1316230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0080855 Parkinsonism IMP D RGD:2302392|PMID:18534259 20081216 RGD 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:24140114|PMID:28492532 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:7240710 20190327 OMIM 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:16199547|PMID:16303288|PMID:17576681|PMID:22013103|PMID:24033266|PMID:24140114|PMID:24702956|PMID:24888602|PMID:25237204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:29921932|PMID:30941118|PMID:31417880|PMID:32506361|PMID:9536098 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1316231 D RGD:40902858|PMID:20565293 20201214 RGD 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118|PMID:30953794 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:630 genetic disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:649 prion disease ISO RGD:1316231 D RGD:40902830|PMID:17573907 20201214 RGD 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:8929 atrophic gastritis ISO RGD:1316231 D RGD:40902973|PMID:23975431 20201217 RGD associated with Helicobacter Infections 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9001455 Intestinal Helminthiasis treatment ISO RGD:1316231 D RGD:40902988|PMID:12370384 20201221 RGD 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9002676 Cerebral Hemorrhage IDA D RGD:2302394|PMID:17250675 20081216 RGD protein:increased activity:striatum 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9004649 Heat Stroke ISO RGD:1316230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 1307189 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2298775|PMID:18633731 20081216 RGD 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:0050952 spastic ataxia ISO RGD:1316232 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:7240710 20190315 OMIM 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 47 PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:1059 intellectual disability ISO RGD:1316232 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:1826 epilepsy ISO RGD:1316232 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316232 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:630 genetic disease ISO RGD:1316232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316232 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316232 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1307190 Pum1 pumilio RNA-binding family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316232 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1307191 Eif3g eukaryotic translation initiation factor 3, subunit G gene DOID:630 genetic disease ISO RGD:1316234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307191 Eif3g eukaryotic translation initiation factor 3, subunit G gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1316234 D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 1307192 Usp16 ubiquitin specific peptidase 16 gene DOID:630 genetic disease ISO RGD:1316236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307193 Myo10 myosin X gene DOID:630 genetic disease ISO RGD:1316238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307193 Myo10 myosin X gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316238 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307193 Myo10 myosin X gene DOID:9004657 Weight Gain ISO RGD:1316238 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1307194 Sbno2 strawberry notch homolog 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316240 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1307194 Sbno2 strawberry notch homolog 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1307194 Sbno2 strawberry notch homolog 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1307194 Sbno2 strawberry notch homolog 2 gene DOID:630 genetic disease ISO RGD:1316240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316242 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316242 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316242 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:7240710 20140911 OMIM 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 7 PMID:23314057|PMID:25741868|PMID:26188975|PMID:28492532|PMID:28530678|PMID:29540472|PMID:30322850|PMID:32880476|PMID:33057194 1307195 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1316242 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0080690 RASopathy ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1316244 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1316244 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:7240710 20190315 OMIM 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:35802133|PMID:36633841 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:1059 intellectual disability ISO RGD:1316244 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:630 genetic disease ISO RGD:1316244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316244 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307196 Mpzl2 myelin protein zero-like 2 gene DOID:9007661 Dwarfism ISO RGD:1316244 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307197 Zfp612 zinc finger protein 612 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307197 Zfp612 zinc finger protein 612 gene DOID:630 genetic disease ISO RGD:1316246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307197 Zfp612 zinc finger protein 612 gene DOID:684 hepatocellular carcinoma ISO RGD:1316246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21965783 1307198 Pbx3 PBX homeobox 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316248 D RGD:153345544|PMID:32449803 20220902 RGD RNA:increased expression:esophagus squamous epithelium (human) 1307198 Pbx3 PBX homeobox 3 gene DOID:630 genetic disease ISO RGD:1316248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307198 Pbx3 PBX homeobox 3 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1316248 D RGD:155630639|PMID:22426282 20221026 RGD DNA:missense mutation:CDS:pAla136Val (human) 1307199 Kcnrg potassium channel regulator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316250 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1307199 Kcnrg potassium channel regulator gene DOID:1059 intellectual disability ISO RGD:1316250 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307199 Kcnrg potassium channel regulator gene DOID:630 genetic disease ISO RGD:1316250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307200 Ung uracil-DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:7240710 20180725 OMIM 1307200 Ung uracil-DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 PMID:12958596|PMID:15967827|PMID:16199547|PMID:17029639|PMID:17576681|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359|PMID:9536098 1307200 Ung uracil-DNA glycosylase gene DOID:0080544 hyper IgM syndrome ISO RGD:1316252 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 1307200 Ung uracil-DNA glycosylase gene DOID:11702 dysgammaglobulinemia ISO RGD:1316252 D RGD:1599705|PMID:12958596 20070213 RGD Hyper-IgM syndrome 5, OMIM:608106 1307200 Ung uracil-DNA glycosylase gene DOID:2717 Bloom syndrome ISO RGD:1316252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2106500 1307200 Ung uracil-DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316252 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307200 Ung uracil-DNA glycosylase gene DOID:630 genetic disease ISO RGD:1316252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307200 Ung uracil-DNA glycosylase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 1307200 Ung uracil-DNA glycosylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 1307201 Ska3 spindle and kinetochore associated complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307201 Ska3 spindle and kinetochore associated complex subunit 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1316254 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307202 Ubqlnl ubiquilin-like gene DOID:630 genetic disease ISO RGD:1605287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307203 Nudcd2 NudC domain containing 2 gene DOID:630 genetic disease ISO RGD:1353286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307204 Epha2 Eph receptor A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316258 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307204 Epha2 Eph receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:7240710 20130731 OMIM 1307204 Epha2 Eph receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract 6, age-related cortical PMID:12167657|PMID:15965161|PMID:16051609|PMID:17576681|PMID:19005574|PMID:19306328|PMID:19649315|PMID:20360610|PMID:20361013|PMID:20625407|PMID:22167091|PMID:22570727|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24014202|PMID:24705208|PMID:24968223|PMID:25148791|PMID:25741868|PMID:26900323|PMID:27315345|PMID:28492532|PMID:29770612|PMID:9536098 1307204 Epha2 Eph receptor A2 gene DOID:13574 cortical senile cataract ISO RGD:1316258 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cortical senile cataract PMID:19649315|PMID:20625407|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24705208 1307204 Epha2 Eph receptor A2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1316258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 1307204 Epha2 Eph receptor A2 gene DOID:14566 disease of cellular proliferation ISO RGD:1316258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 1307204 Epha2 Eph receptor A2 gene DOID:3490 Noonan syndrome ISO RGD:1316258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 1307204 Epha2 Eph receptor A2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316258 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:20360610|PMID:25741868|PMID:28492532 1307204 Epha2 Eph receptor A2 gene DOID:630 genetic disease ISO RGD:1316258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307204 Epha2 Eph receptor A2 gene DOID:83 cataract ISO RGD:1316258 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 1307204 Epha2 Eph receptor A2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316258 D RGD:153344568|PMID:33833989 20220826 RGD protein:increased expression:esophagus (human) 1307204 Epha2 Eph receptor A2 gene DOID:9000918 Disease Progression ISO RGD:1316258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 1307204 Epha2 Eph receptor A2 gene DOID:9004009 Reperfusion Injury IDA D RGD:1580976|PMID:16735461 19990101 RGD 1307204 Epha2 Eph receptor A2 gene DOID:9007748 Retinal Neovascularization IDA D RGD:1580975|PMID:16359662 19990101 RGD 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316260 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:7240710 20190315 OMIM 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:1826 epilepsy ISO RGD:1316260 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:630 genetic disease ISO RGD:1316260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307205 Pigp phosphatidylinositol glycan anchor biosynthesis, class P gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1307206 Ephx3 epoxide hydrolase 3 gene DOID:1909 melanoma ISO RGD:1316262 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1307206 Ephx3 epoxide hydrolase 3 gene DOID:630 genetic disease ISO RGD:1316262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307206 Ephx3 epoxide hydrolase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316262 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1307207 Lama1 laminin subunit alpha 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1316264 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1307207 Lama1 laminin subunit alpha 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1316264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 1307207 Lama1 laminin subunit alpha 1 gene DOID:0081292 traumatic brain injury ISO RGD:1316264 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 1307207 Lama1 laminin subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:1316264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1307207 Lama1 laminin subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:1316264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307207 Lama1 laminin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1316264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1307207 Lama1 laminin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25105227|PMID:25741868|PMID:26350204|PMID:26932191|PMID:28492532|PMID:32590954|PMID:34423300 1307207 Lama1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:7240710 20170405 OMIM 1307207 Lama1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poretti-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:33101984|PMID:33767182|PMID:34423300|PMID:9536098 1307207 Lama1 laminin subunit alpha 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1307209 Lrrc28 leucine rich repeat containing 28 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1316267 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1307209 Lrrc28 leucine rich repeat containing 28 gene DOID:630 genetic disease ISO RGD:1316267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307209 Lrrc28 leucine rich repeat containing 28 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307210 Mei1 meiotic double-stranded break formation protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1642765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307210 Mei1 meiotic double-stranded break formation protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1642765 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1307210 Mei1 meiotic double-stranded break formation protein 1 gene DOID:630 genetic disease ISO RGD:1642765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307210 Mei1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:7240710 20190612 OMIM 1307210 Mei1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 PMID:25741868|PMID:30388401 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1353460 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1353460 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:10907 microcephaly ISO RGD:1353460 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1353460 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353460 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:1909 melanoma ISO RGD:1353460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307211 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:9000495 Tremor ISO RGD:1353460 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1307212 Rnf44 ring finger protein 44 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1316271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1307212 Rnf44 ring finger protein 44 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1316271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1307212 Rnf44 ring finger protein 44 gene DOID:630 genetic disease ISO RGD:1316271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307212 Rnf44 ring finger protein 44 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316271 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307212 Rnf44 ring finger protein 44 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1316271 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1307213 Plekhj1 pleckstrin homology domain containing J1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1307213 Plekhj1 pleckstrin homology domain containing J1 gene DOID:630 genetic disease ISO RGD:1316273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307213 Plekhj1 pleckstrin homology domain containing J1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316273 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307214 Zfp438 zinc finger protein 438 gene DOID:1909 melanoma ISO RGD:1603538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1307214 Zfp438 zinc finger protein 438 gene DOID:630 genetic disease ISO RGD:1603538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307217 Adgrg7 adhesion G protein-coupled receptor G7 gene DOID:630 genetic disease ISO RGD:1316279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307217 Adgrg7 adhesion G protein-coupled receptor G7 gene DOID:684 hepatocellular carcinoma ISO RGD:1316279 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307218 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:1059 intellectual disability ISO RGD:1316281 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307218 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 1307218 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:630 genetic disease ISO RGD:1316281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307218 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 1307219 Pira2 paired-Ig-like receptor A2 gene DOID:630 genetic disease ISO RGD:1603957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307219 Pira2 paired-Ig-like receptor A2 gene DOID:850 lung disease ISO RGD:1317898 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 1307222 Cluh clustered mitochondria homolog gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1601881 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 1307222 Cluh clustered mitochondria homolog gene DOID:10487 Hirschsprung's disease ISO RGD:1601881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1307222 Cluh clustered mitochondria homolog gene DOID:630 genetic disease ISO RGD:1601881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:7240710 20140911 OMIM 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:24827035|PMID:25741868|PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2340 craniosynostosis ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2661 myoepithelioma ISO RGD:1316288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:630 genetic disease ISO RGD:1316288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20857490 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9269 maple syrup urine disease ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307223 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1604194 D RGD:152995521|PMID:27729429 20220628 RGD protein:increased expression:colon (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:152995444|PMID:32588907 20220622 RGD associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:152995448|PMID:26159923 20220622 RGD protein:increased expression:gastric tumor (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:1324 lung cancer ISO RGD:1604194 D RGD:11535413|PMID:26370156 20220627 RGD DNA:amplification: :lung (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:152995458|PMID:24244675 20220623 RGD protein:increased expression:colon (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:152995494|PMID:20226010 20220627 RGD human cells in mouse model 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:219 colon cancer severity ISO RGD:1604194 D RGD:152995462|PMID:31932471 20220623 RGD mRNA:increased expression:colon (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1604194 D RGD:152995469|PMID:20978191 20220623 RGD associated with lymphatic metastasis; protein:increased expression:breast tumor, lymph node (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:3121 gallbladder cancer ISO RGD:1604194 D RGD:152995522|PMID:24508317 20220628 RGD DNA:CNV, amplification:exon (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1604194 D RGD:152995523|PMID:29885404 20220628 RGD protein:increased expression:lung (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1604194 D RGD:152995460|PMID:30119206 20220623 RGD human cells in mouse model 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1604194 D RGD:152995512|PMID:32642408 20220628 RGD protein:increased expression:esophagus (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1604194 D RGD:152995470|PMID:28132115 20220623 RGD protein:increased expression:esophagus (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:152995447|PMID:31454632 20220622 RGD associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:152995517|PMID:27863413 20220628 RGD DNA:CNV, amplification:exon (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604194 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:630 genetic disease ISO RGD:1604194 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1556939 D RGD:152995524|PMID:29303510 20220628 RGD 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1604194 D RGD:152995471|PMID:25371154 20220623 RGD mRNA, protein:increased expression:liver (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:8649 tongue cancer disease_progression ISO RGD:1604194 D RGD:152995520|PMID:25749387 20220628 RGD protein:increased expression:tongue (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604194 D RGD:152995469|PMID:20978191 20220623 RGD associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9002170 Experimental Neoplasms disease_progression ISO RGD:1556939 D RGD:152995458|PMID:24244675 20220623 RGD 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604194 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9006618 Liver Metastasis ISO RGD:1556939 D RGD:152995463|PMID:30404068 20220623 RGD 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1604194 D RGD:152995463|PMID:30404068 20220623 RGD mRNA:increased expression:liver (human) 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9009121 lung metastasis ISO RGD:1556939 D RGD:152995516|PMID:29809146 20220628 RGD 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9009121 lung metastasis ISO RGD:1604194 D RGD:152995469|PMID:20978191 20220623 RGD human cells in mouse model 1307224 Rictor RPTOR independent companion of MTOR, complex 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1604194 D RGD:152995519|PMID:27063170 20220628 RGD associated with Lymphatic Metastasis; protein:increased expression:colon (human) 1307226 Tuba1c tubulin, alpha 1C gene DOID:11476 osteoporosis ISO RGD:1606486 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1307226 Tuba1c tubulin, alpha 1C gene DOID:630 genetic disease ISO RGD:1606486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307226 Tuba1c tubulin, alpha 1C gene DOID:9000217 Stomach Neoplasms ISO RGD:1606486 D RGD:11554173 20170711 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 1307226 Tuba1c tubulin, alpha 1C gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606486 D RGD:11554173 20170711 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1307227 Fstl4 follistatin-like 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307227 Fstl4 follistatin-like 4 gene DOID:630 genetic disease ISO RGD:1316293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307227 Fstl4 follistatin-like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316293 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307227 Fstl4 follistatin-like 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307228 Raly RALY heterogeneous nuclear ribonucleoprotein gene DOID:2843 long QT syndrome ISO RGD:1316295 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1307228 Raly RALY heterogeneous nuclear ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1316295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307228 Raly RALY heterogeneous nuclear ribonucleoprotein gene DOID:670 amphetamine abuse ISO RGD:1316295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1307229 Rsph4a radial spoke head component 4A gene DOID:0050144 Kartagener syndrome ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23798057|PMID:24824133|PMID:25741868|PMID:28492532|PMID:9536098 1307229 Rsph4a radial spoke head component 4A gene DOID:0060041 autism spectrum disorder ISO RGD:1348763 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1307229 Rsph4a radial spoke head component 4A gene DOID:0060163 body dysmorphic disorder ISO RGD:1348763 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1307229 Rsph4a radial spoke head component 4A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1307229 Rsph4a radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:7240710 20130731 OMIM 1307229 Rsph4a radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:28492532|PMID:32253119|PMID:34768622|PMID:9536098 1307229 Rsph4a radial spoke head component 4A gene DOID:1059 intellectual disability ISO RGD:1348763 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1307229 Rsph4a radial spoke head component 4A gene DOID:10907 microcephaly ISO RGD:1348763 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1307229 Rsph4a radial spoke head component 4A gene DOID:1826 epilepsy ISO RGD:1348763 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307229 Rsph4a radial spoke head component 4A gene DOID:630 genetic disease ISO RGD:1348763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307229 Rsph4a radial spoke head component 4A gene DOID:9000495 Tremor ISO RGD:1348763 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1307229 Rsph4a radial spoke head component 4A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:27637300|PMID:27848944|PMID:28492532|PMID:32253119|PMID:34768622|PMID:9536098 1307230 Moap1 modulator of apoptosis 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1316298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1307231 Rsbn1 round spermatid basic protein 1 gene DOID:0080690 RASopathy ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307231 Rsbn1 round spermatid basic protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1307231 Rsbn1 round spermatid basic protein 1 gene DOID:630 genetic disease ISO RGD:1347428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:20818383|PMID:21681106|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24033266|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:0060892 late onset Parkinson's disease ISO RGD:1343672 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29982452 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:7240710 20190315 OMIM 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:16199547|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29417091|PMID:29982452|PMID:30897263|PMID:31787496|PMID:31917109|PMID:32518176|PMID:33224084 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:14330 Parkinson's disease ISO RGD:1343672 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:630 genetic disease ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176|PMID:9536098 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:700 mitochondrial metabolism disease ISO RGD:1343672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 1307232 Nubpl NUBP iron-sulfur cluster assembly factor like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343672 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307233 Aebp2 AE binding protein 2 gene DOID:10487 Hirschsprung's disease ISS RGD:1316304 D RGD:13592920 20180518 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 1307233 Aebp2 AE binding protein 2 gene DOID:630 genetic disease ISO RGD:1316303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307233 Aebp2 AE binding protein 2 gene DOID:9258 Waardenburg's syndrome ISS RGD:1316304 D RGD:13592920 20180518 MouseDO 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601772 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1601772 D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1601772 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:23143600|PMID:28067909|PMID:28067911 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:7240710 20130731 OMIM 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: Weakness of facial musculature PMID:16199547|PMID:17576681|PMID:23143600|PMID:24075187|PMID:24755953|PMID:25214167|PMID:25256356|PMID:25370034|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26842768|PMID:27061275|PMID:28067909|PMID:28067911|PMID:28492532|PMID:29980640|PMID:30327220|PMID:30546343|PMID:31243061|PMID:31312724|PMID:31600781|PMID:32528171|PMID:34008892|PMID:8723126|PMID:9536098 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1601772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11383 cryptorchidism ISO RGD:1601772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28067909 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601772 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:630 genetic disease ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23143600|PMID:25256356|PMID:25370034|PMID:25741868|PMID:26467025|PMID:27061275|PMID:28492532 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004042 Olfaction Disorders ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004147 Anosmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1601772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005532 Muscle Weakness ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:23143600|PMID:28492532 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9006386 Scapulohumeral Muscular Dystrophy ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:32528171 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067909|PMID:28067911 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:7240710 20190315 OMIM 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia PMID:11321738|PMID:16353241|PMID:23143600|PMID:23432817|PMID:23852095|PMID:25741868|PMID:26440771|PMID:26467025|PMID:26842768|PMID:28067909|PMID:28067911|PMID:28492532|PMID:31243061|PMID:31312724|PMID:5032329|PMID:672092|PMID:6802865|PMID:8446727|PMID:8723126 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 1307234 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:1601772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 1307235 Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1307235 Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1316306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1307235 Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:630 genetic disease ISO RGD:1316306 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307236 Lmod1 leiomodin 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1316308 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28292896 1307236 Lmod1 leiomodin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1307236 Lmod1 leiomodin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316308 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307236 Lmod1 leiomodin 1 gene DOID:289 endometriosis ISO RGD:1316308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1307236 Lmod1 leiomodin 1 gene DOID:3393 coronary artery disease ISO RGD:1316308 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 1307236 Lmod1 leiomodin 1 gene DOID:630 genetic disease ISO RGD:1316308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307236 Lmod1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:7240710 20210616 OMIM 1307236 Lmod1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 PMID:28292896 1307236 Lmod1 leiomodin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1307236 Lmod1 leiomodin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316308 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307237 Arhgap22 Rho GTPase activating protein 22 gene DOID:10316 pneumoconiosis ISO RGD:1316310 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1307237 Arhgap22 Rho GTPase activating protein 22 gene DOID:11372 megacolon ISO RGD:1316310 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307237 Arhgap22 Rho GTPase activating protein 22 gene DOID:2843 long QT syndrome ISO RGD:1316310 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1307237 Arhgap22 Rho GTPase activating protein 22 gene DOID:5419 schizophrenia ISO RGD:1316310 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307237 Arhgap22 Rho GTPase activating protein 22 gene DOID:630 genetic disease ISO RGD:1316310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1316312 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316312 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20210120 OMIM 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9008582 Developmental Disease ISO RGD:1316312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:32738225 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20201202 OMIM 1307238 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225 1307239 Dhx33 DEAH-box helicase 33 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1316314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1307239 Dhx33 DEAH-box helicase 33 gene DOID:630 genetic disease ISO RGD:1316314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307241 Tmcc3 transmembrane and coiled-coil domain family 3 gene DOID:2661 myoepithelioma ISO RGD:1346901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1307241 Tmcc3 transmembrane and coiled-coil domain family 3 gene DOID:630 genetic disease ISO RGD:1346901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307242 Kat2a lysine acetyltransferase 2A gene DOID:0080074 neural tube defect ISO RGD:1316320 D RGD:9590240|PMID:17325035 20141120 RGD DNA:missense mutations:exons:p.E568A, p.D609A (mouse) 1307242 Kat2a lysine acetyltransferase 2A gene DOID:2043 hepatitis B treatment ISO RGD:1316320 D RGD:9590262|PMID:23913178 20141121 RGD 1307242 Kat2a lysine acetyltransferase 2A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316319 D RGD:9590260|PMID:23543735 20180706 RGD 1307242 Kat2a lysine acetyltransferase 2A gene DOID:630 genetic disease ISO RGD:1316319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307242 Kat2a lysine acetyltransferase 2A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316320 D RGD:9590239|PMID:15932940 20141120 RGD protein:increased expression:retina (mouse) 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:1540 parathyroid carcinoma ISO RGD:1605709 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:5812 MHC class II deficiency ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:630 genetic disease ISO RGD:1605709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307244 Slc25a44 solute carrier family 25, member 44 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605709 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1316326 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:14566 disease of cellular proliferation ISO RGD:1316326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18239605 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:bile duct (human) PMID:31964418|REF_RGD_ID:153344516 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:5419 schizophrenia ISO RGD:1316326 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316326 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:607 paraplegia ISO RGD:1316326 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:630 genetic disease ISO RGD:1316326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307247 Birc6 baculoviral IAP repeat-containing 6 gene DOID:9003654 Testicular Germ Cell Tumor disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:decreased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25604658|PMID:25741868|PMID:26182405|PMID:27943079|PMID:28492532|PMID:31130681 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:0050990 episodic ataxia type 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:27943079|PMID:28492532 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1316328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:0111254 glutaric acidemia I ISO RGD:1316328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:3413 alpha-mannosidosis ISO RGD:1316328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:3910 lung adenocarcinoma ISO RGD:1316328 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:630 genetic disease ISO RGD:1316328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24300241|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:7240710 20130425 OMIM 1307248 Rnaseh2a ribonuclease H2, subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:15870678|PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:31130681|PMID:31529068|PMID:9536098 1307249 Clic3 chloride intracellular channel 3 gene DOID:0050777 Joubert syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1307249 Clic3 chloride intracellular channel 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1307249 Clic3 chloride intracellular channel 3 gene DOID:1826 epilepsy ISO RGD:1316330 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1307249 Clic3 chloride intracellular channel 3 gene DOID:3652 Leigh disease ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1307249 Clic3 chloride intracellular channel 3 gene DOID:630 genetic disease ISO RGD:1316330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307249 Clic3 chloride intracellular channel 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307250 Hoxc10 homeo box C10 gene DOID:630 genetic disease ISO RGD:1316332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307250 Hoxc10 homeo box C10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316332 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307250 Hoxc10 homeo box C10 gene DOID:9004998 Kyphoscoliosis IEP D RGD:11354896|PMID:18327665 20160728 RGD mRNA:decreased expression:verterbra 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:23160464|PMID:28492532 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:7240710 20191002 OMIM 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:17343268|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31256876|PMID:34400385 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:2717 Bloom syndrome ISO RGD:1316334 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:630 genetic disease ISO RGD:1316334 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1316334 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25326635|PMID:25741868|PMID:31256876 1307251 Pigb phosphatidylinositol glycan anchor biosynthesis, class B gene DOID:9256 colorectal cancer ISO RGD:1316334 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:1316336 D RGD:2325813|PMID:19641128 20100610 RGD 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:1612 breast cancer susceptibility ISO RGD:1316336 D RGD:1599219|PMID:8971156 20070122 RGD 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1316336 D RGD:1599219|PMID:8971156 20070122 RGD 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:1793 pancreatic cancer ISO RGD:1316336 D RGD:2325804|PMID:9174057 20100610 RGD DNA:point mutations, deletions:cds:multiple (human) 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:1793 pancreatic cancer no_association ISO RGD:1316336 D RGD:2317157|PMID:17072959 20100610 RGD DNA:polymorphisms: :multiple (human) 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1316336 D RGD:1599219|PMID:8971156 20070122 RGD 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1316336 D RGD:1599220|PMID:8649854 20070122 RGD 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1316336 D RGD:1599219|PMID:8971156 20070122 RGD 1307252 Manf mesencephalic astrocyte-derived neurotrophic factor gene DOID:9004009 Reperfusion Injury IEP D RGD:2325809|PMID:19773801 20100610 RGD protein:increased expression:brain 1307253 Sav1 salvador family WW domain containing protein 1 gene DOID:5353 colonic disease ISS RGD:1316339 D RGD:13592920 20180518 MouseDO 1307253 Sav1 salvador family WW domain containing protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316338 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307253 Sav1 salvador family WW domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1316338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307253 Sav1 salvador family WW domain containing protein 1 gene DOID:684 hepatocellular carcinoma ISS RGD:1316339 D RGD:13592920 20180518 MouseDO OMIM:114550 1307254 Gpalpp1 GPALPP motifs containing 1 gene DOID:630 genetic disease ISO RGD:1316340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1316345 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316345 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16646077|PMID:26214589|PMID:27006472 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:1598915|PMID:1522903 20061222 RGD 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:7240710 20150128 OMIM 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:25741868|PMID:28492532 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:630 genetic disease ISO RGD:1316345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316345 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1316345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12162413 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1316345 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 1307258 Ewsr1 EWS RNA-binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1307260 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1307260 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:1059 intellectual disability ISO RGD:1350948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307260 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307260 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:2746 glycogen storage disease V ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307260 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:3070 high grade glioma ISO RGD:1350948 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1307260 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:630 genetic disease ISO RGD:1350948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307261 Gsdmd gasdermin D gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307261 Gsdmd gasdermin D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307261 Gsdmd gasdermin D gene DOID:4621 holoprosencephaly ISO RGD:1316349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307261 Gsdmd gasdermin D gene DOID:630 genetic disease ISO RGD:1316349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307262 Tmem242 transmembrane protein 242 gene DOID:10348 blepharophimosis ISO RGD:1316350 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 1307262 Tmem242 transmembrane protein 242 gene DOID:630 genetic disease ISO RGD:1316350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307263 Elovl3 ELOVL fatty acid elongase 3 gene DOID:630 genetic disease ISO RGD:1316352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307264 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:0050553 JMP syndrome ISO RGD:1316354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1307264 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:630 genetic disease ISO RGD:1316354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307264 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316354 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1307264 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 1307266 Pnma2 PNMA family member 2 gene DOID:630 genetic disease ISO RGD:1316357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307267 Naaa N-acylethanolamine acid amidase gene DOID:630 genetic disease ISO RGD:1316359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307267 Naaa N-acylethanolamine acid amidase gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1307267 Naaa N-acylethanolamine acid amidase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1307268 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:7240710 20190315 OMIM 1307268 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 PMID:25741868|PMID:28492532 1307268 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:630 genetic disease ISO RGD:1607049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307268 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1607049 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 1307269 Eif3a eukaryotic translation initiation factor 3, subunit A gene DOID:630 genetic disease ISO RGD:1316362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307269 Eif3a eukaryotic translation initiation factor 3, subunit A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316362 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1307270 Lias lipoic acid synthetase gene DOID:3770 pulmonary fibrosis ISO RGD:1316364 D RGD:11554173 20200805 CTD CTD Direct Evidence: therapeutic PMID:32017981 1307270 Lias lipoic acid synthetase gene DOID:552 pneumonia ISO RGD:1316364 D RGD:11554173 20200805 CTD CTD Direct Evidence: therapeutic PMID:32017981 1307270 Lias lipoic acid synthetase gene DOID:630 genetic disease ISO RGD:1316364 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:28817111 1307270 Lias lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:7240710 20140911 OMIM 1307270 Lias lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:16199547|PMID:17576681|PMID:2152680|PMID:22152680|PMID:24334290|PMID:25741868|PMID:26108146|PMID:26467025|PMID:27923773|PMID:28492532|PMID:28817111|PMID:36680912|PMID:9536098 1307271 Epc2 enhancer of polycomb homolog 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 1307271 Epc2 enhancer of polycomb homolog 2 gene DOID:630 genetic disease ISO RGD:1316366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307271 Epc2 enhancer of polycomb homolog 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316366 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1316368 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:28492532 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15006694|PMID:17103451|PMID:17478475 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:7240710 20130221 OMIM 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:11279515|PMID:11448942|PMID:11592033|PMID:11595972|PMID:11891681|PMID:12784289|PMID:12920073|PMID:15121779|PMID:15908750|PMID:16053902|PMID:16088920|PMID:16199547|PMID:16532472|PMID:16688751|PMID:17203459|PMID:17576681|PMID:17932455|PMID:17958891|PMID:18182442|PMID:18414213|PMID:19006215|PMID:19215041|PMID:19842203|PMID:2030158|PMID:20428734|PMID:23243526|PMID:23418865|PMID:23466526|PMID:23523603|PMID:24092421|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25326635|PMID:25326637|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26633542|PMID:26661037|PMID:26809768|PMID:26993267|PMID:27831545|PMID:28166811|PMID:28492532|PMID:28501473|PMID:28708303|PMID:29089047|PMID:29159939|PMID:29263819|PMID:29300384|PMID:30315573|PMID:31130284|PMID:31376723|PMID:32860008|PMID:34298581|PMID:9536098|PMID:9719364 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1316368 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316368 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316368 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316368 D RGD:1599885|PMID:11279515 20070220 RGD Mowat-Wilson syndrome, OMIM:235730 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316368 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1316368 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:1324 lung cancer ISO RGD:1316368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:1682 congenital heart disease ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17478475 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:2786 cerebellar disease ISO RGD:1316368 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316368 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:5602 T-cell adult acute lymphocytic leukemia ISS RGD:1316369 D RGD:13592920 20181108 MouseDO 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:576 proteinuria IEP D RGD:155882534|PMID:31784544 20230126 RGD mRNA:increased expression:glomerular podocytes (rat) 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:5844 myocardial infarction IEP D RGD:155882536|PMID:24155330 20230126 RGD protein:increased expression:heart (rat) 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:630 genetic disease ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448942|PMID:12784289|PMID:15121779|PMID:16053902|PMID:17203459|PMID:17958891|PMID:18414213|PMID:19215041|PMID:19842203|PMID:20428734|PMID:23243526|PMID:23322667|PMID:23466526|PMID:23523603|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26661037|PMID:26809768|PMID:27831545|PMID:28492532|PMID:29089047|PMID:29300384|PMID:31376723|PMID:9719364 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9000918 Disease Progression ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9002320 Neurobehavioral Manifestations treatment IMP D RGD:155882538|PMID:34334113 20230126 RGD 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma IEP D RGD:155882538|PMID:34334113 20230126 RGD protein:increased expression:brain (rat) 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma treatment IMP D RGD:155882538|PMID:34334113 20230126 RGD 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:155882534|PMID:31784544 20230126 RGD mRNA:increased expression:glomerular podocytes (rat) 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia IMP D RGD:155882542|PMID:34852714 20230130 RGD 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316368 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9004797 Fetal Nutrition Disorders IEP D RGD:155882570|PMID:23977013 20230130 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316368 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316368 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9007402 Gliosis IMP D RGD:155882542|PMID:34852714 20230130 RGD 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9008297 Motor Disorders ISO RGD:1316368 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 1307272 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1316370 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:22922874|PMID:23141461|PMID:25234635|PMID:28492532|PMID:28572511|PMID:30651581|PMID:33729671|PMID:33845046 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1316370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:1059 intellectual disability ISO RGD:1316370 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1316370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:655 inherited metabolic disorder ISO RGD:1316370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9000918 Disease Progression ISO RGD:1316370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:7240710 20140911 OMIM 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE PMID:16199547|PMID:17576681|PMID:22922874|PMID:25741868|PMID:28492532|PMID:30293248|PMID:33845046|PMID:9536098 1307273 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1307274 Sdf2 stromal cell derived factor 2 gene DOID:630 genetic disease ISO RGD:1316372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307276 Zc3h3 zinc finger CCCH type containing 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307276 Zc3h3 zinc finger CCCH type containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307276 Zc3h3 zinc finger CCCH type containing 3 gene DOID:1227 neutropenia ISO RGD:1316375 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1307276 Zc3h3 zinc finger CCCH type containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1316375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307276 Zc3h3 zinc finger CCCH type containing 3 gene DOID:630 genetic disease ISO RGD:1316375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307277 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1307277 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:1059 intellectual disability ISO RGD:1316377 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307277 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:3070 high grade glioma ISO RGD:1316377 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1307277 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:630 genetic disease ISO RGD:1316377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307278 Mier2 MIER family member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316379 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1307278 Mier2 MIER family member 2 gene DOID:630 genetic disease ISO RGD:1316379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307278 Mier2 MIER family member 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316379 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1307279 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351951 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1307279 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:630 genetic disease ISO RGD:1351951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307279 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:6420 pulmonary valve stenosis ISO RGD:1351951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1307279 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:8445 intestinal volvulus ISO RGD:1351951 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1307279 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351951 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307279 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1351951 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1307280 Nkx6-2 NK6 homeobox 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316381 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1307280 Nkx6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:7240710 20190315 OMIM 1307280 Nkx6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy PMID:25741868|PMID:28492532|PMID:28575651|PMID:30285346|PMID:31509304|PMID:32860008 1307280 Nkx6-2 NK6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1316381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307281 Sacs sacsin molecular chaperone gene DOID:0050942 spastic ataxia 3 ISO RGD:1316383 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic ataxia PMID:20876471|PMID:21450511|PMID:24033266|PMID:24180463|PMID:25741868 1307281 Sacs sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:7240710 20130619 OMIM 1307281 Sacs sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:14718708|PMID:15156359|PMID:15486997|PMID:15985586|PMID:16007637|PMID:16198375|PMID:16606928|PMID:16944349|PMID:16961075|PMID:17516465|PMID:17576681|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22751902|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:24033266|PMID:24108619|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29220673|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:33624863|PMID:33746006|PMID:34600502|PMID:34758253|PMID:35578252|PMID:35731353|PMID:9536098|PMID:9892370 1307281 Sacs sacsin molecular chaperone gene DOID:0050951 hereditary ataxia ISO RGD:1316383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30901567 1307281 Sacs sacsin molecular chaperone gene DOID:0050952 spastic ataxia ISO RGD:1316383 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 1307281 Sacs sacsin molecular chaperone gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:18465152|PMID:20876471|PMID:25741868|PMID:28492532 1307281 Sacs sacsin molecular chaperone gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1316383 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1307281 Sacs sacsin molecular chaperone gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:18398442|PMID:18414213|PMID:19031088|PMID:19208398|PMID:24033266|PMID:24180463|PMID:25741868|PMID:26467025|PMID:28492532 1307281 Sacs sacsin molecular chaperone gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1316383 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1307281 Sacs sacsin molecular chaperone gene DOID:1826 epilepsy ISO RGD:1316383 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1307281 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30680480|PMID:31637422|PMID:31673878|PMID:33624863 1307281 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 1307281 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 1307281 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502 1307281 Sacs sacsin molecular chaperone gene DOID:2661 myoepithelioma ISO RGD:1316383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1307281 Sacs sacsin molecular chaperone gene DOID:5419 schizophrenia ISO RGD:1316383 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307281 Sacs sacsin molecular chaperone gene DOID:607 paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16007637|PMID:16198375|PMID:16199547|PMID:16944349|PMID:17290461|PMID:17516465|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18604465|PMID:19031088|PMID:19208398|PMID:19208651|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20307669|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21416271|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22406018|PMID:22816526|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23785480|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24457356|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27600236|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29093530|PMID:29220673|PMID:29277257|PMID:29321516|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29449188|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32581362|PMID:32606552|PMID:33414805|PMID:33624863|PMID:33746006|PMID:34600502|PMID:34758253|PMID:35578252|PMID:35731353|PMID:9536098|PMID:9892370 1307281 Sacs sacsin molecular chaperone gene DOID:630 genetic disease ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15156359|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20488193|PMID:21507954|PMID:21745802|PMID:23123642|PMID:23280630|PMID:23497566|PMID:24108619|PMID:25741868|PMID:25819952|PMID:26288984|PMID:26467025|PMID:27288452|PMID:28491899|PMID:28492532|PMID:28658401|PMID:29538656|PMID:29915382|PMID:31493945|PMID:33624863|PMID:33746006|PMID:35578252 1307281 Sacs sacsin molecular chaperone gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 1307281 Sacs sacsin molecular chaperone gene DOID:9009163 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation PMID:15156359|PMID:21507954|PMID:25741868|PMID:28492532|PMID:30460542|PMID:31692161 1307281 Sacs sacsin molecular chaperone gene DOID:9277 primary cerebellar degeneration ISO RGD:1316383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30901567 1307282 Brd4 bromodomain containing 4 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316385 D RGD:9586353|PMID:23759512 20140929 RGD 1307282 Brd4 bromodomain containing 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:35887114 1307282 Brd4 bromodomain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316385 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:24231268|PMID:31594641 1307282 Brd4 bromodomain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316385 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307282 Brd4 bromodomain containing 4 gene DOID:10605 short bowel syndrome ISO RGD:1316385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome 1 PMID:25741868 1307282 Brd4 bromodomain containing 4 gene DOID:10907 microcephaly ISO RGD:1316385 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Microcephaly 1307282 Brd4 bromodomain containing 4 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316385 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29379197 1307282 Brd4 bromodomain containing 4 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:25741868|PMID:34035299 1307282 Brd4 bromodomain containing 4 gene DOID:12679 nephrocalcinosis ISS RGD:1316386 D RGD:13592920 20211028 MouseDO 1307282 Brd4 bromodomain containing 4 gene DOID:1909 melanoma ISO RGD:1316385 D RGD:9586346|PMID:23950209 20140929 RGD protein:mRNA:skin: 1307282 Brd4 bromodomain containing 4 gene DOID:219 colon cancer ISO RGD:1316385 D RGD:9586351|PMID:22120039 20140929 RGD 1307282 Brd4 bromodomain containing 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316385 D RGD:9586352|PMID:25120803 20140929 RGD mRNA,protein:increased expression:bladder: 1307282 Brd4 bromodomain containing 4 gene DOID:3068 glioblastoma ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26455392|PMID:27388964 1307282 Brd4 bromodomain containing 4 gene DOID:3347 osteosarcoma ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24646477 1307282 Brd4 bromodomain containing 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1316386 D RGD:9586353|PMID:23759512 20140929 RGD 1307282 Brd4 bromodomain containing 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316385 D RGD:11085509|PMID:26707881 20181115 RGD mRNA, protein:increased expression:thyroid 1307282 Brd4 bromodomain containing 4 gene DOID:630 genetic disease ISO RGD:1316385 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19828451|PMID:28492532 1307282 Brd4 bromodomain containing 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26224795 1307282 Brd4 bromodomain containing 4 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 1307282 Brd4 bromodomain containing 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316385 D RGD:9586346|PMID:23950209 20140929 RGD 1307282 Brd4 bromodomain containing 4 gene DOID:9002221 Hyperplasia ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 1307282 Brd4 bromodomain containing 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1307282 Brd4 bromodomain containing 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26752646 1307282 Brd4 bromodomain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316385 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307282 Brd4 bromodomain containing 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26707881 1307282 Brd4 bromodomain containing 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1316386 D RGD:9586348|PMID:23939492 20140929 RGD protein:increased expression:heart: 1307282 Brd4 bromodomain containing 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316385 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1307282 Brd4 bromodomain containing 4 gene DOID:9007661 Dwarfism ISO RGD:1316385 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1307282 Brd4 bromodomain containing 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1316386 D RGD:155883171|PMID:33982231 20230206 RGD mRNA,protein:increased expression:heart 1307282 Brd4 bromodomain containing 4 gene DOID:9008582 Developmental Disease ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1307282 Brd4 bromodomain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1316386 D RGD:9586350|PMID:21814200 20140929 RGD 1307282 Brd4 bromodomain containing 4 gene DOID:987 alopecia ISO RGD:1316385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 1307283 Aim2 absent in melanoma 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1307283 Aim2 absent in melanoma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316387 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307283 Aim2 absent in melanoma 2 gene DOID:2377 multiple sclerosis ISO RGD:1316387 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1307283 Aim2 absent in melanoma 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316387 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1307283 Aim2 absent in melanoma 2 gene DOID:630 genetic disease ISO RGD:1316387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307283 Aim2 absent in melanoma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316387 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307284 Wnk2 WNK lysine deficient protein kinase 2 gene DOID:224 transient cerebral ischemia IEP D RGD:14398833|PMID:27798271 20190503 RGD 1307284 Wnk2 WNK lysine deficient protein kinase 2 gene DOID:630 genetic disease ISO RGD:1349205 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307285 Ciao1 cytosolic iron-sulfur assembly component 1 gene DOID:1059 intellectual disability ISO RGD:1354495 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307285 Ciao1 cytosolic iron-sulfur assembly component 1 gene DOID:5419 schizophrenia ISO RGD:1354495 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307285 Ciao1 cytosolic iron-sulfur assembly component 1 gene DOID:630 genetic disease ISO RGD:1354495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:12849 autistic disorder ISO RGD:1605116 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1605116 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:630 genetic disease ISO RGD:1605116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605116 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:9263 homocystinuria ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1307286 Rrp1 ribosomal RNA processing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307287 Sh2d3c SH2 domain containing 3C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1307287 Sh2d3c SH2 domain containing 3C gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307287 Sh2d3c SH2 domain containing 3C gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1316391 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1307287 Sh2d3c SH2 domain containing 3C gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1307287 Sh2d3c SH2 domain containing 3C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1307287 Sh2d3c SH2 domain containing 3C gene DOID:630 genetic disease ISO RGD:1316391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307288 Prr29 proline rich 29 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603374 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1307288 Prr29 proline rich 29 gene DOID:630 genetic disease ISO RGD:1603374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307289 Pigx phosphatidylinositol glycan anchor biosynthesis, class X gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1343989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1307289 Pigx phosphatidylinositol glycan anchor biosynthesis, class X gene DOID:12849 autistic disorder ISO RGD:1343989 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307289 Pigx phosphatidylinositol glycan anchor biosynthesis, class X gene DOID:5419 schizophrenia ISO RGD:1343989 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307289 Pigx phosphatidylinositol glycan anchor biosynthesis, class X gene DOID:630 genetic disease ISO RGD:1343989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307291 Gcat glycine C-acetyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307291 Gcat glycine C-acetyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307291 Gcat glycine C-acetyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307291 Gcat glycine C-acetyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307291 Gcat glycine C-acetyltransferase gene DOID:630 genetic disease ISO RGD:1316396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307291 Gcat glycine C-acetyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307292 Slc41a2 solute carrier family 41 member 2 gene DOID:630 genetic disease ISO RGD:1316398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:10591 pre-eclampsia ISO RGD:1316400 D RGD:2289846|PMID:17845206 20080214 RGD protein:increased expression:decidua 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:1612 breast cancer ISO RGD:1316400 D RGD:2289857|PMID:12160478 20080214 RGD DNA:amplification 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1316400 D RGD:2289854|PMID:15164121 20080214 RGD protein:increased expression:ovary 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1316400 D RGD:2289850|PMID:16112719 20080214 RGD protein:increased expression:endometrium 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:289 endometriosis ISO RGD:1316400 D RGD:2289850|PMID:16112719 20080214 RGD protein:decreased expression:endometrium 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:3007 breast ductal carcinoma severity ISO RGD:1316400 D RGD:2298489|PMID:12054692 20080701 RGD protein:increased expression:breast 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:3008 invasive ductal carcinoma ISO RGD:1316400 D RGD:2289858|PMID:11742495 20080214 RGD mRNA, protein:increased expression:breast 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:363 uterine cancer ISO RGD:1316400 D RGD:2289849|PMID:16842844 20080214 RGD protein:increased expression:serum 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:4362 cervical cancer disease_progression ISO RGD:1316400 D RGD:2289851|PMID:16112176 20080214 RGD protein:increased expression:uterine cervix 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1316401 D RGD:2289852|PMID:15867365 20080214 RGD 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:630 genetic disease ISO RGD:1316400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:2289847|PMID:17187007 20080214 RGD associated with Breast Neoplasms;protein:increased expression:breast 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:2289856|PMID:12845666 20080214 RGD associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node 1307293 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:2298489|PMID:12054692 20080701 RGD associated with Breast Neoplasms;protein:increased expression:breast 1307294 Osbpl11 oxysterol binding protein-like 11 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1307294 Osbpl11 oxysterol binding protein-like 11 gene DOID:630 genetic disease ISO RGD:1316402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307294 Osbpl11 oxysterol binding protein-like 11 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 1307294 Osbpl11 oxysterol binding protein-like 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316402 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1307294 Osbpl11 oxysterol binding protein-like 11 gene DOID:9270 alkaptonuria ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1307295 Rabgef1 RAB guanine nucleotide exchange factor 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 1307295 Rabgef1 RAB guanine nucleotide exchange factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316404 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307295 Rabgef1 RAB guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307298 Zic4 Zic family member 4 gene DOID:2785 Dandy-Walker syndrome ISS RGD:1316410 D RGD:13592920 20180518 MouseDO OMIM:220200 1307298 Zic4 Zic family member 4 gene DOID:630 genetic disease ISO RGD:1316409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307298 Zic4 Zic family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316409 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307299 Wasf2 WASP family member 2 gene DOID:630 genetic disease ISO RGD:1316411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307301 Zfp263 zinc finger protein 263 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1307301 Zfp263 zinc finger protein 263 gene DOID:1826 epilepsy ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307301 Zfp263 zinc finger protein 263 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316415 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307301 Zfp263 zinc finger protein 263 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1307301 Zfp263 zinc finger protein 263 gene DOID:630 genetic disease ISO RGD:1316415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307302 Chst9 carbohydrate sulfotransferase 9 gene DOID:1059 intellectual disability ISO RGD:1316417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307302 Chst9 carbohydrate sulfotransferase 9 gene DOID:630 genetic disease ISO RGD:1316417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:28776325|PMID:30311386|PMID:32376792|PMID:34169998|PMID:9536098 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:7240710 20180711 OMIM 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:20301641|PMID:20582309|PMID:21892769|PMID:23393557|PMID:23996628|PMID:24136616|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28454995|PMID:28492532|PMID:30311386|PMID:31673878|PMID:32376792|PMID:9536098 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12872253|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:14264 benign neonatal seizures ISO RGD:1316419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:1909 melanoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:3068 glioblastoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:3069 malignant astrocytoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778198 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:4310 smooth muscle tumor ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:5241 hemangioblastoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316419 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:630 genetic disease ISO RGD:1316419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12872253|PMID:16199547|PMID:17576681|PMID:23996628|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15867226|PMID:22972152 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316419 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 1307303 Ndrg1 N-myc downstream regulated 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 1307304 Rftn2 raftlin family member 2 gene DOID:630 genetic disease ISO RGD:1316421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307304 Rftn2 raftlin family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316421 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307305 Josd2 Josephin domain containing 2 gene DOID:630 genetic disease ISO RGD:1606979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307306 Ddx21 DExD-box helicase 21 gene DOID:630 genetic disease ISO RGD:1312763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1316424 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:7240710 20190315 OMIM 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 PMID:22114105|PMID:25741868|PMID:28492532|PMID:28671271 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:3652 Leigh disease ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:630 genetic disease ISO RGD:1316424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1307307 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316424 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307308 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 1307308 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:630 genetic disease ISO RGD:1316426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307308 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11753679 1307308 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:9007402 Gliosis ISO RGD:1316426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 1307309 Cenpm centromere protein M gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307309 Cenpm centromere protein M gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1316428 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1307309 Cenpm centromere protein M gene DOID:1059 intellectual disability ISO RGD:1316428 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307309 Cenpm centromere protein M gene DOID:630 genetic disease ISO RGD:1316428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307309 Cenpm centromere protein M gene DOID:684 hepatocellular carcinoma ISO RGD:1316428 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307311 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:12914149|PMID:23267094 20170711 RGD 1307311 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like gene DOID:0080074 neural tube defect ISS RGD:1550697 D RGD:13592920 20180518 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 1307311 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like gene DOID:0080074 neural tube defect susceptibility ISO RGD:1342984 D RGD:12914147|PMID:19777576 20170711 RGD DNA:deletion/insertion polymorphism:splice junction:rs3832406(human) 1307311 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like gene DOID:630 genetic disease ISO RGD:1342984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307311 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550697 D RGD:12914149|PMID:23267094 20170711 RGD 1307312 Ppp4r2 protein phosphatase 4, regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1316433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:11832 visual epilepsy IMP D RGD:6907384|PMID:17437412 20121101 RGD 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:13714 anodontia ISO RGD:1316435 D RGD:12738234|PMID:22984994 20170131 RGD DNA:SNP: :rs11001553 (human) 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:289 endometriosis ISO RGD:1316435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:630 genetic disease ISO RGD:1316435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002165 Diabetic Nephropathies IMP D RGD:6907383|PMID:20019166 20121101 RGD associated with Diabetes Mellitus, Experimental 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases IDA D RGD:6907380|PMID:21567076 20121101 RGD associated with Diabetes Mellitus, Experimental 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1316436 D RGD:6907379|PMID:21773994 20121101 RGD 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002331 Knee Osteoarthritis IMP D RGD:6907382|PMID:20131282 20121101 RGD 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002589 Bone Fractures ISO RGD:1316435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1316435 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008763 Femoral Fractures IMP D RGD:6907379|PMID:21773994 20121101 RGD 1307313 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 1307314 Cbx6 chromobox 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307314 Cbx6 chromobox 6 gene DOID:3068 glioblastoma disease_progression ISO RGD:1316437 D RGD:9587354|PMID:24260522 20141008 RGD mRNA,protein:decreased expression:astrocyte: 1307314 Cbx6 chromobox 6 gene DOID:630 genetic disease ISO RGD:1316437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307315 Clba1 clathrin binding box of aftiphilin containing 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1307315 Clba1 clathrin binding box of aftiphilin containing 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1307316 L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:1612 breast cancer severity ISO RGD:1344736 D RGD:9588606|PMID:21837478 20141031 RGD mRNA:decreased expression:breast (human) 1307316 L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:2234 focal epilepsy ISO RGD:1344736 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1307316 L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:630 genetic disease ISO RGD:1344736 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307318 Stk36 serine/threonine kinase 36 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316442 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1307318 Stk36 serine/threonine kinase 36 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1307318 Stk36 serine/threonine kinase 36 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1307318 Stk36 serine/threonine kinase 36 gene DOID:10908 hydrocephalus ISS RGD:1550700 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1307318 Stk36 serine/threonine kinase 36 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1307318 Stk36 serine/threonine kinase 36 gene DOID:630 genetic disease ISO RGD:1316442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307318 Stk36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:7240710 20210728 OMIM 1307318 Stk36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 PMID:25741868|PMID:28492532|PMID:28543983 1307318 Stk36 serine/threonine kinase 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316442 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307318 Stk36 serine/threonine kinase 36 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316442 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1307319 Snx11 sorting nexin 11 gene DOID:630 genetic disease ISO RGD:1316444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307321 Slc39a10 solute carrier family 39 member 10 gene DOID:630 genetic disease ISO RGD:1316445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307321 Slc39a10 solute carrier family 39 member 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316445 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307321 Slc39a10 solute carrier family 39 member 10 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17359283 1307323 Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 gene DOID:630 genetic disease ISO RGD:1316449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307323 Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316449 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307323 Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 gene DOID:9007096 Stroke susceptibility ISO RGD:1316449 D RGD:9681739|PMID:22990015 20141205 RGD DNA:SNP::rs1364044(human) 1307325 Cfap97 cilia and flagella associated protein 97 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316452 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1307325 Cfap97 cilia and flagella associated protein 97 gene DOID:630 genetic disease ISO RGD:1316452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307325 Cfap97 cilia and flagella associated protein 97 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1316452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1316454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12207933|PMID:1303230|PMID:1677316|PMID:1822787|PMID:20493460|PMID:20739940|PMID:22190321|PMID:28492532 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316454 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1316454 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:12849 autistic disorder ISO RGD:1316454 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:289 endometriosis ISO RGD:1316454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:5419 schizophrenia ISO RGD:1316454 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307326 Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 gene DOID:630 genetic disease ISO RGD:1316454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307327 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1316456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1307327 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1307327 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:1059 intellectual disability ISO RGD:1316456 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307327 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1307327 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:630 genetic disease ISO RGD:1316456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307328 Trim7 tripartite motif-containing 7 gene DOID:0080600 COVID-19 ISO RGD:1316458 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307328 Trim7 tripartite motif-containing 7 gene DOID:630 genetic disease ISO RGD:1316458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307329 Gle1 GLE1 RNA export mediator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307329 Gle1 GLE1 RNA export mediator gene DOID:0060558 lethal congenital contracture syndrome ISO RGD:1316460 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1307329 Gle1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204449 1307329 Gle1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:7240710 20130221 OMIM 1307329 Gle1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 1307329 Gle1 GLE1 RNA export mediator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307329 Gle1 GLE1 RNA export mediator gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 1307329 Gle1 GLE1 RNA export mediator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307329 Gle1 GLE1 RNA export mediator gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316460 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868|PMID:28884921 1307329 Gle1 GLE1 RNA export mediator gene DOID:630 genetic disease ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18204449|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510 1307329 Gle1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:7240710 20130221 OMIM 1307329 Gle1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:27684565|PMID:28492532|PMID:28657126|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:0050951 hereditary ataxia ISS RGD:1316463 D RGD:13592920 20180518 MouseDO 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:26581903|PMID:30531813 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:1316462 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:28492532 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:7240710 20180418 OMIM 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome PMID:25741868|PMID:28492532|PMID:29419818|PMID:32146038|PMID:32860008 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:1059 intellectual disability ISO RGD:1316462 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:3070 high grade glioma ISO RGD:1316462 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1316462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316462 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1307330 Scyl1 SCY1 like pseudokinase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:13782043|PMID:22449973 20180815 RGD protein:decreased expression, decreased activity:heart 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316464 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316464 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12574164 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:8725 vascular dementia ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316464 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1307331 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316464 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307332 Srxn1 sulfiredoxin 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 1307332 Srxn1 sulfiredoxin 1 gene DOID:630 genetic disease ISO RGD:1316466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307332 Srxn1 sulfiredoxin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316466 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307332 Srxn1 sulfiredoxin 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1316466 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316469 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1316469 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316469 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:9263 homocystinuria ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1307334 Pofut2 protein O-fucosyltransferase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307335 Il20ra interleukin 20 receptor subunit alpha gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1316471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1307335 Il20ra interleukin 20 receptor subunit alpha gene DOID:0111955 immunodeficiency 27A ISO RGD:1316471 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1307335 Il20ra interleukin 20 receptor subunit alpha gene DOID:14115 toxic shock syndrome ISO RGD:1618138 D RGD:5037232|PMID:18246602 20110303 RGD mRNA:increased expression:multiple 1307335 Il20ra interleukin 20 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1316471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307335 Il20ra interleukin 20 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:1316471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1307335 Il20ra interleukin 20 receptor subunit alpha gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 1307336 Morn4 MORN repeat containing 4 gene DOID:630 genetic disease ISO RGD:1316472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307337 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316474 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1307337 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1316474 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307337 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1316474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307337 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:893 Wilson disease ISO RGD:1316474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 1307338 Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316476 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1307338 Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 gene DOID:2717 Bloom syndrome ISO RGD:1316476 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307338 Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 gene DOID:630 genetic disease ISO RGD:1316476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307338 Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 gene DOID:9256 colorectal cancer ISO RGD:1316476 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307339 Trim33 tripartite motif-containing 33 gene DOID:0080690 RASopathy ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307339 Trim33 tripartite motif-containing 33 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1307339 Trim33 tripartite motif-containing 33 gene DOID:2394 ovarian cancer ISO RGD:1316478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1307339 Trim33 tripartite motif-containing 33 gene DOID:630 genetic disease ISO RGD:1316478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307341 Capn12 calpain 12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307341 Capn12 calpain 12 gene DOID:630 genetic disease ISO RGD:1316482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307341 Capn12 calpain 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307342 Gpr137b G protein-coupled receptor 137B gene DOID:1540 parathyroid carcinoma ISO RGD:1316484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307342 Gpr137b G protein-coupled receptor 137B gene DOID:630 genetic disease ISO RGD:1316484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307342 Gpr137b G protein-coupled receptor 137B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316484 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307343 Herpud2 HERPUD family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605640 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307343 Herpud2 HERPUD family member 2 gene DOID:630 genetic disease ISO RGD:1605640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307343 Herpud2 HERPUD family member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1307345 Zfp521 zinc finger protein 521 gene DOID:1059 intellectual disability ISO RGD:1316488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307345 Zfp521 zinc finger protein 521 gene DOID:1324 lung cancer ISO RGD:1316488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1307345 Zfp521 zinc finger protein 521 gene DOID:5419 schizophrenia ISS RGD:1316489 D RGD:13592920 20180518 MouseDO OMIM:181500 1307345 Zfp521 zinc finger protein 521 gene DOID:630 genetic disease ISO RGD:1316488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307346 Fbxo21 F-box protein 21 gene DOID:630 genetic disease ISO RGD:1316490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307346 Fbxo21 F-box protein 21 gene DOID:9004657 Weight Gain ISO RGD:1316490 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1307347 Ing2 inhibitor of growth family, member 2 gene DOID:630 genetic disease ISO RGD:1348017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307348 Nhlrc2 NHL repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307348 Nhlrc2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:7240710 20190315 OMIM 1307348 Nhlrc2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis PMID:25741868|PMID:29423877|PMID:30138417|PMID:30239752|PMID:32435055|PMID:34165204 1307352 Tssk1b testis-specific serine kinase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605025 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307352 Tssk1b testis-specific serine kinase 1B gene DOID:417 autoimmune disease ISO RGD:1552675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15140057 1307352 Tssk1b testis-specific serine kinase 1B gene DOID:630 genetic disease ISO RGD:1605025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307352 Tssk1b testis-specific serine kinase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605025 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307352 Tssk1b testis-specific serine kinase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605025 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1307352 Tssk1b testis-specific serine kinase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605025 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307354 Tysnd1 trypsin like peroxisomal matrix peptidase 1 gene DOID:630 genetic disease ISO RGD:1316504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316505 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316505 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1307355 Stkld1 serine/threonine kinase-like domain containing 1 gene DOID:630 genetic disease ISO RGD:1316505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307356 Tent4a terminal nucleotidyltransferase 4A gene DOID:630 genetic disease ISO RGD:1316507 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307357 Enkd1 enkurin domain containing 1 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1353138 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1307357 Enkd1 enkurin domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307357 Enkd1 enkurin domain containing 1 gene DOID:630 genetic disease ISO RGD:1353138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307358 Lrrc10 leucine-rich repeat-containing 10 gene DOID:0060224 atrial fibrillation ISO RGD:1348592 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1307358 Lrrc10 leucine-rich repeat-containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28166811|PMID:28492532 1307358 Lrrc10 leucine-rich repeat-containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1307358 Lrrc10 leucine-rich repeat-containing 10 gene DOID:12930 dilated cardiomyopathy ISS RGD:1316510 D RGD:13592920 20180518 MouseDO 1307358 Lrrc10 leucine-rich repeat-containing 10 gene DOID:6000 congestive heart failure ISO RGD:1348592 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1307358 Lrrc10 leucine-rich repeat-containing 10 gene DOID:630 genetic disease ISO RGD:1348592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307359 Brd9 bromodomain containing 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316511 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1307359 Brd9 bromodomain containing 9 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1316511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1307359 Brd9 bromodomain containing 9 gene DOID:630 genetic disease ISO RGD:1316511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307359 Brd9 bromodomain containing 9 gene DOID:8541 Sezary's disease ISO RGD:1316511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 1307359 Brd9 bromodomain containing 9 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1316511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1307360 Atf1 activating transcription factor 1 gene DOID:0080322 polycystic kidney disease IEP D RGD:2316104|PMID:19924104 20100126 RGD mRNA:increased expression:kidney (rat) 1307360 Atf1 activating transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1316513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307360 Atf1 activating transcription factor 1 gene DOID:630 genetic disease ISO RGD:1316513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307361 Bcl2l12 Bcl2 like 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1307361 Bcl2l12 Bcl2 like 12 gene DOID:1909 melanoma ISO RGD:1606211 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 1307361 Bcl2l12 Bcl2 like 12 gene DOID:630 genetic disease ISO RGD:1606211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307361 Bcl2l12 Bcl2 like 12 gene DOID:8923 skin melanoma ISO RGD:1606211 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 1307362 Bccip BRCA2 and CDKN1A interacting protein gene DOID:630 genetic disease ISO RGD:1316516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307363 Nkiras2 NFKB inhibitor interacting Ras-like 2 gene DOID:0080600 COVID-19 ISO RGD:1316518 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307363 Nkiras2 NFKB inhibitor interacting Ras-like 2 gene DOID:630 genetic disease ISO RGD:1316518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307364 Spata13 spermatogenesis associated 13 gene DOID:1826 epilepsy ISO RGD:1316520 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1307364 Spata13 spermatogenesis associated 13 gene DOID:5419 schizophrenia ISO RGD:1316520 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307364 Spata13 spermatogenesis associated 13 gene DOID:630 genetic disease ISO RGD:1316520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307365 Cep162 centrosomal protein 162 gene DOID:630 genetic disease ISO RGD:1316522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1607065 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26092869 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0050777 Joubert syndrome ISO RGD:1607065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24997988|PMID:25741868|PMID:26092869 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1607065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:24997988|PMID:25741868|PMID:26092869 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24997988|PMID:26092869 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:1059 intellectual disability ISO RGD:1607065 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:4501 orofaciodigital syndrome ISO RGD:1607065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997988 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:630 genetic disease ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1607065 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:7240710 20151209 OMIM 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome xiv PMID:16199547|PMID:17576681|PMID:24997988|PMID:25741868|PMID:26092869|PMID:26477546|PMID:28492532|PMID:30097616|PMID:9536098 1307366 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607065 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1307367 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1307367 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1307367 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1307367 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:630 genetic disease ISO RGD:1316525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307367 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307367 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:9870 galactosemia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1307368 Psapl1 prosaposin-like 1 gene DOID:630 genetic disease ISO RGD:1603414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307369 Smyd4 SET and MYND domain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1307369 Smyd4 SET and MYND domain containing 4 gene DOID:630 genetic disease ISO RGD:1316528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307370 Cdh5 cadherin 5 gene DOID:0050535 exudative vitreoretinopathy ISS RGD:1316531 D RGD:13592920 20230511 MouseDO 1307370 Cdh5 cadherin 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307370 Cdh5 cadherin 5 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316530 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1307370 Cdh5 cadherin 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1316530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 1307370 Cdh5 cadherin 5 gene DOID:1790 malignant mesothelioma ISO RGD:1316530 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 1307370 Cdh5 cadherin 5 gene DOID:3393 coronary artery disease ISO RGD:1316530 D RGD:1598391|PMID:14695457 20061121 RGD 1307370 Cdh5 cadherin 5 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1316530 D RGD:151665104|PMID:32626543 20220310 RGD 1307370 Cdh5 cadherin 5 gene DOID:630 genetic disease ISO RGD:1316530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307370 Cdh5 cadherin 5 gene DOID:6432 pulmonary hypertension IEP D RGD:38500244|PMID:25593290 20200924 RGD protein:decreased expression:lung 1307370 Cdh5 cadherin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307370 Cdh5 cadherin 5 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:1316530 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16824628 1307370 Cdh5 cadherin 5 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:38500244|PMID:25593290 20200924 RGD protein:decreased expression:lung 1307370 Cdh5 cadherin 5 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316530 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307370 Cdh5 cadherin 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1307370 Cdh5 cadherin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1316530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1307371 Saa4 serum amyloid A4 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1316532 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1307371 Saa4 serum amyloid A4 gene DOID:1059 intellectual disability ISO RGD:1316532 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307372 Xylb xylulokinase gene DOID:0050451 Brugada syndrome ISO RGD:1316534 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1307372 Xylb xylulokinase gene DOID:630 genetic disease ISO RGD:1316534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307372 Xylb xylulokinase gene DOID:9001436 Immunodeficiency 68 ISO RGD:1316534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 1307372 Xylb xylulokinase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316534 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1307372 Xylb xylulokinase gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1316534 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1307373 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1316536 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1307373 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:12215 oligohydramnios ISO RGD:1316536 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 1307373 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:2975 cystic kidney disease ISO RGD:1316536 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 1307373 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:630 genetic disease ISO RGD:1316536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32631624 1307373 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:7240710 20190315 OMIM 1307373 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease PMID:25741868|PMID:29706351|PMID:32631624 1307374 Rprd1a regulation of nuclear pre-mRNA domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1605654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307374 Rprd1a regulation of nuclear pre-mRNA domain containing 1A gene DOID:630 genetic disease ISO RGD:1605654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307375 Tarbp2 Tarbp2 subunit of RISC loading complex gene DOID:630 genetic disease ISO RGD:1316539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307375 Tarbp2 Tarbp2 subunit of RISC loading complex gene DOID:9000027 Microsatellite Instability ISO RGD:1316539 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 1307375 Tarbp2 Tarbp2 subunit of RISC loading complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316539 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307376 Rpa1 replication protein A1 gene DOID:630 genetic disease ISO RGD:1316541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307376 Rpa1 replication protein A1 gene DOID:9001341 Chloracne ISO RGD:1316541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1307376 Rpa1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:7240710 20220316 OMIM 1307376 Rpa1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome PMID:25741868|PMID:34767620 1307377 Klc2 kinesin light chain 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1603973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 1307377 Klc2 kinesin light chain 2 gene DOID:0060491 SPOAN syndrome ISO RGD:1603973 D RGD:7240710 20190315 OMIM 1307377 Klc2 kinesin light chain 2 gene DOID:0060491 SPOAN syndrome ISO RGD:1603973 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPOAN syndrome PMID:24482476|PMID:25741868|PMID:26385635|PMID:28492532 1307377 Klc2 kinesin light chain 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1603973 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1307377 Klc2 kinesin light chain 2 gene DOID:1059 intellectual disability ISO RGD:1603973 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307377 Klc2 kinesin light chain 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307377 Klc2 kinesin light chain 2 gene DOID:2746 glycogen storage disease V ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307377 Klc2 kinesin light chain 2 gene DOID:630 genetic disease ISO RGD:1603973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307377 Klc2 kinesin light chain 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603973 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1307377 Klc2 kinesin light chain 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1307378 Scart1 scavenger receptor family member expressed on T-cells 1 gene DOID:13938 amenorrhea ISO RGD:12792009 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1307379 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1307379 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1354069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25774636 1307379 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1354069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307379 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354069 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1307380 Actr1b actin related protein 1B gene DOID:630 genetic disease ISO RGD:1316546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307381 Jmjd8 jumonji domain containing 8 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1601801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24719489|PMID:24742043|PMID:25741868|PMID:28492532|PMID:31571321 1307381 Jmjd8 jumonji domain containing 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1307381 Jmjd8 jumonji domain containing 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1307381 Jmjd8 jumonji domain containing 8 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1601801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 1307381 Jmjd8 jumonji domain containing 8 gene DOID:1826 epilepsy ISO RGD:1601801 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307381 Jmjd8 jumonji domain containing 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601801 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307381 Jmjd8 jumonji domain containing 8 gene DOID:630 genetic disease ISO RGD:1601801 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316549 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316549 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:3652 Leigh disease ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1307382 Surf6 surfeit 6 gene DOID:630 genetic disease ISO RGD:1316549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1316551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:19631310|PMID:21450060|PMID:22927265|PMID:26783444|PMID:27025581|PMID:28492532 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:0060762 restrictive dermopathy ISS RGD:1316552 D RGD:13592920 20180518 MouseDO OMIM:275210 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:630 genetic disease ISO RGD:1316551 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19631310|PMID:21450060|PMID:28492532 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:7240710 20130221 OMIM 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis prematurity syndrome PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27081519|PMID:27224495|PMID:28492532|PMID:30536735 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1316551 D RGD:1625638|PMID:15168018 20070615 RGD mRNA:increased expression:subcutaneous adipose tissue 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:9452 fatty liver disease IEP D RGD:1625640|PMID:16248953 20070615 RGD mRNA, protein:increased expression 1307383 Slc27a4 solute carrier family 27 member 4 gene DOID:9970 obesity ISO RGD:1316551 D RGD:1625638|PMID:15168018 20070615 RGD mRNA:increased expression:subcutaneous adipose tissue 1307384 Il21 interleukin 21 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1316554 D RGD:127285376|PMID:29370719 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1316554 D RGD:127285545|PMID:21204603 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:7240710 20160210 OMIM 1307384 Il21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 11 PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 1307384 Il21 interleukin 21 gene DOID:10608 celiac disease ISO RGD:1316553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17558408 1307384 Il21 interleukin 21 gene DOID:10608 celiac disease susceptibility ISO RGD:1316553 D RGD:127285362|PMID:22077623 20210617 RGD protein:increased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:11168 anogenital venereal wart ISO RGD:1316553 D RGD:127285371|PMID:31414711 20210617 RGD protein:decreased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:12177 common variable immunodeficiency ISO RGD:1316553 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1307384 Il21 interleukin 21 gene DOID:12177 common variable immunodeficiency ISO RGD:1316553 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IL21 DEFICIENCY PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 1307384 Il21 interleukin 21 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:1316553 D RGD:127285368|PMID:24858204 20210617 RGD protein:increased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:12365 malaria exacerbates ISO RGD:1316554 D RGD:127285358|PMID:25763578 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:1909 melanoma treatment ISO RGD:1316554 D RGD:127285553|PMID:22477528 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:2043 hepatitis B ISO RGD:1316554 D RGD:127285375|PMID:29544722 20210617 RGD mRNA:increased expression:spleen (C57BL/6N mouse) 1307384 Il21 interleukin 21 gene DOID:2048 autoimmune hepatitis exacerbates ISO RGD:1316553 D RGD:127285554|PMID:27386263 20210622 RGD protein:increased expression:blood serum, peripheral blood mononuclear cell (human) 1307384 Il21 interleukin 21 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1316554 D RGD:127285540|PMID:17695518 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:2841 asthma ISO RGD:1316553 D RGD:5147396|PMID:18802358 20110803 RGD DNA:SNP:exon:5250C>T (human) 1307384 Il21 interleukin 21 gene DOID:321 tropical spastic paraparesis ISO RGD:1316553 D RGD:127285561|PMID:28378248 20210622 RGD protein:decreased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20110803 RGD mRNA:increased expression:lymph node, B cell 1307384 Il21 interleukin 21 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1316554 D RGD:127285543|PMID:21423809 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:4270 encephalitozoonosis ISO RGD:1316554 D RGD:11086452|PMID:26597007 20210622 RGD protein:increased expression:CD4-positive helper T cell (mouse) 1307384 Il21 interleukin 21 gene DOID:4483 rhinitis ISO RGD:1316554 D RGD:5147397|PMID:17982108 20110803 RGD 1307384 Il21 interleukin 21 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1316553 D RGD:127285546|PMID:24611989 20210622 RGD associated with Chronic Hepatitis B;mRNA:increased expression: liver (human) 1307384 Il21 interleukin 21 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316553 D RGD:127285366|PMID:22948268 20210617 RGD associated with hepatitis B;protein:decreased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:630 genetic disease ISO RGD:1316553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307384 Il21 interleukin 21 gene DOID:684 hepatocellular carcinoma ISO RGD:1316553 D RGD:127285359|PMID:25892873 20210617 RGD associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human) 1307384 Il21 interleukin 21 gene DOID:8566 herpes simplex ISO RGD:1316554 D RGD:127285372|PMID:16406655 20210617 RGD mRNA:increased expression:spleen (mouse) 1307384 Il21 interleukin 21 gene DOID:8566 herpes simplex treatment ISO RGD:1316554 D RGD:127285367|PMID:19233474 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:8704 genital herpes treatment ISO RGD:1316554 D RGD:127285365|PMID:24358128 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:8869 neuromyelitis optica ISO RGD:1316553 D RGD:127285589|PMID:23041403 20210622 RGD protein:increased expression:cerebrospinal fluid (human) 1307384 Il21 interleukin 21 gene DOID:9000238 Acute-On-Chronic Liver Failure ameliorates ISO RGD:1316553 D RGD:127285541|PMID:21692955 20210622 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:9000371 influenza A ISO RGD:1316554 D RGD:127285548|PMID:25251568 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1316554 D RGD:127285552|PMID:25889760 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:9001953 Pneumovirus Infections ISO RGD:1316554 D RGD:6892925|PMID:22238461 20210622 RGD mRNA:increased expression:lung (mouse) 1307384 Il21 interleukin 21 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:5147399|PMID:18997868 20110803 RGD 1307384 Il21 interleukin 21 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1316553 D RGD:127285373|PMID:24170093 20210617 RGD protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) 1307384 Il21 interleukin 21 gene DOID:9004283 Transplant Rejection ISO RGD:1316553 D RGD:127285550|PMID:23656167 20210622 RGD associated with hepatitis B;DNA:SNPs, haplotype:intron, CDS:1472G>T, 5250C>T (rs2055979, rs4833837) (human) 1307384 Il21 interleukin 21 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1316553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1307384 Il21 interleukin 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316553 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307384 Il21 interleukin 21 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1316554 D RGD:127285360|PMID:23667536 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:9007204 Dysbiosis treatment IEP D RGD:38549571|PMID:32227764 20200902 RGD 1307384 Il21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316553 D RGD:127285542|PMID:17442980 20210622 RGD mRNA, protein:increased expression:mucosa of stomach (human) 1307384 Il21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316554 D RGD:127285544|PMID:31383743 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:127285361|PMID:28500636 20210617 RGD protein:decreased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:127285378|PMID:25243706 20210617 RGD protein:increased expression:blood serum (human) 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1316553 D RGD:127285353|PMID:23354321 20210617 RGD DNA:SNP:intron: (rs2221903) (human) 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:127285539|PMID:29879024 20210622 RGD DNA:SNPs:introns: (rs2221903, rs907715) (human) 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:127285549|PMID:26840345 20210622 RGD associated with non-alcoholic fatty liver disease 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316554 D RGD:127285364|PMID:30260401 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316554 D RGD:127285369|PMID:32373234 20210617 RGD 1307384 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316554 D RGD:127285551|PMID:31281514 20210622 RGD 1307384 Il21 interleukin 21 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316553 D RGD:127285377|PMID:28483840 20210617 RGD protein:decreased expression:colorectum (human) 1307384 Il21 interleukin 21 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1316554 D RGD:127285547|PMID:22429963 20210622 RGD protein:increased expression:popliteal lymph node (mouse) 1307384 Il21 interleukin 21 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17911475 1307384 Il21 interleukin 21 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1316553 D RGD:127285363|PMID:23236436 20210617 RGD DNA:SNP:intron: (rs907715) (human) 1307384 Il21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1316554 D RGD:127285370|PMID:27300756 20210617 RGD associated with Arenaviridae infectious disease 1307384 Il21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1316554 D RGD:127285590|PMID:28711285 20210622 RGD 1307385 Hcfc2 host cell factor C2 gene DOID:630 genetic disease ISO RGD:1316555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307386 Gem GTP binding protein overexpressed in skeletal muscle gene DOID:11372 megacolon ISO RGD:1316557 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307386 Gem GTP binding protein overexpressed in skeletal muscle gene DOID:1686 glaucoma IEP D RGD:155630605|PMID:28990066 20221025 RGD mRNA:decreased expression:optic nerve head (rat) 1307386 Gem GTP binding protein overexpressed in skeletal muscle gene DOID:630 genetic disease ISO RGD:1316557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307387 Nlrp10 NLR family, pyrin domain containing 10 gene DOID:630 genetic disease ISO RGD:1316559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:11832 visual epilepsy IEP D RGD:9587847|PMID:12123686 20141021 RGD mRNA:increased expression:hippocampus 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:12849 autistic disorder ISO RGD:1316562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:224 transient cerebral ischemia IEP D RGD:9587846|PMID:12421618 20141021 RGD mRNA:decreased expression:hippocampus 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1307389 Mbd3 methyl-CpG binding domain protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316562 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307392 Ift43 intraflagellar transport 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1602079 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 1307392 Ift43 intraflagellar transport 43 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1602079 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1307392 Ift43 intraflagellar transport 43 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1602079 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1307392 Ift43 intraflagellar transport 43 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602079 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28400947|PMID:28492532|PMID:29068549 1307392 Ift43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:7240710 20190315 OMIM 1307392 Ift43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 81 PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:28973684 1307392 Ift43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:7240710 20190315 OMIM 1307392 Ift43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly PMID:25741868|PMID:28400947|PMID:28492532 1307392 Ift43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:7240710 20140903 OMIM 1307392 Ift43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 PMID:17576681|PMID:21378380|PMID:24027799|PMID:25741868|PMID:26489029|PMID:28400947|PMID:28492532|PMID:29896747|PMID:9536098 1307392 Ift43 intraflagellar transport 43 gene DOID:10283 prostate cancer ISO RGD:1602079 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307392 Ift43 intraflagellar transport 43 gene DOID:1059 intellectual disability ISO RGD:1602079 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307392 Ift43 intraflagellar transport 43 gene DOID:630 genetic disease ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307392 Ift43 intraflagellar transport 43 gene DOID:65 connective tissue disease ISO RGD:1602079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532 1307393 Wdr89 WD repeat domain 89 gene DOID:630 genetic disease ISO RGD:1316567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307394 Mfsd11 major facilitator superfamily domain containing 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1603960 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 1307394 Mfsd11 major facilitator superfamily domain containing 11 gene DOID:630 genetic disease ISO RGD:1603960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307395 Pnisr PNN interacting serine and arginine rich protein gene DOID:630 genetic disease ISO RGD:1316570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307396 Medag mesenteric estrogen-dependent adipogenesis gene DOID:630 genetic disease ISO RGD:1605918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307397 Gins4 GINS complex subunit 4 gene DOID:630 genetic disease ISO RGD:1601940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307399 Tmem230 transmembrane protein 230 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1316576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1307399 Tmem230 transmembrane protein 230 gene DOID:10283 prostate cancer ISO RGD:1316576 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307399 Tmem230 transmembrane protein 230 gene DOID:14330 Parkinson's disease ISO RGD:1316576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27270108 1307399 Tmem230 transmembrane protein 230 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1316576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1307399 Tmem230 transmembrane protein 230 gene DOID:630 genetic disease ISO RGD:1316576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307400 Cep97 centrosomal protein 97 gene DOID:630 genetic disease ISO RGD:1343045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307400 Cep97 centrosomal protein 97 gene DOID:9008086 Developmental Disabilities ISO RGD:1343045 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 1307401 Eepd1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606501 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307401 Eepd1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1345783 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:1148 polydactyly ISO RGD:1345783 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:630 genetic disease ISO RGD:1345783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307402 Slc23a3 solute carrier family 23, member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345783 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0080199 colorectal carcinoma ISO RGD:1348038 D RGD:1580058|PMID:14732230 19990101 RGD 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:10487 Hirschsprung's disease ISO RGD:1348038 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29429387 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:2913 acute pancreatitis ISO RGD:1316582 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:pancreatic acinar cell: 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3068 glioblastoma ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19823589 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3070 high grade glioma ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3347 osteosarcoma ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21311599 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316582 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:pancreas 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348038 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:exocrine pancreas: 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348038 D RGD:126781701|PMID:21165554 20210415 RGD 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:5176 renal Wilms' tumor ISO RGD:1348038 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1348038 D RGD:14928318|PMID:26919246 20190916 RGD 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9000918 Disease Progression ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9001865 Myeloid Leukemia, Accelerated Phase ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1348038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1316582 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:pancreatic acinar cell: 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1348038 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:exocrine pancreas: 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1316582 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:pancreatic acinar cell: 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1348038 D RGD:9491843|PMID:19585519 20140926 RGD protein:increased expression:exocrine pancreas: 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1316582 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 1307403 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9119 acute myeloid leukemia ISO RGD:1348038 D RGD:1580059|PMID:16105758 19990101 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2133253|PMID:6889048|PMID:8967151|PMID:11132655 1307404 Serpinc1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:1580119|PMID:12595305 19990101 RGD DNA:missense mutation:cds:p.F229L (human) 1307404 Serpinc1 serpin family C member 1 gene DOID:0060903 thrombosis treatment IDA D RGD:11035267|PMID:17293494 20160215 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:21264449|PMID:23932013|PMID:25298121|PMID:28492532 1307404 Serpinc1 serpin family C member 1 gene DOID:10159 osteonecrosis ISO RGD:1316583 D RGD:30309948|PMID:16547717 20200624 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 1307404 Serpinc1 serpin family C member 1 gene DOID:10159 osteonecrosis ISO RGD:1316583 D RGD:30309951|PMID:16677567 20200622 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 1307404 Serpinc1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:6233579|PMID:8810955|PMID:9637888 1307404 Serpinc1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1316583 D RGD:11035251|PMID:2679067 20160212 RGD associated with Endotoxemia 1307404 Serpinc1 serpin family C member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 1307404 Serpinc1 serpin family C member 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:11035268|PMID:17283885 20160215 RGD protein:increased expression:plasma 1307404 Serpinc1 serpin family C member 1 gene DOID:1184 nephrotic syndrome IEP D RGD:11035294|PMID:7532794 20160216 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 1307404 Serpinc1 serpin family C member 1 gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:1316583 D RGD:11038563|PMID:8979144 20160218 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:1247 blood coagulation disease ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:62897 1307404 Serpinc1 serpin family C member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1316583 D RGD:1599323|PMID:16732381 20070130 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316583 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307404 Serpinc1 serpin family C member 1 gene DOID:2213 hemorrhagic disease ISO RGD:1316583 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:12907439|PMID:1906811|PMID:19277409|PMID:2012760|PMID:20683322|PMID:23329010|PMID:24055113|PMID:25341889|PMID:25637381|PMID:25741868|PMID:28317092|PMID:28492532|PMID:29902631|PMID:8664906|PMID:9493570 1307404 Serpinc1 serpin family C member 1 gene DOID:2394 ovarian cancer IEP D RGD:11035257|PMID:22818854 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:3021 acute kidney failure ISO RGD:1316583 D RGD:11354006|PMID:26108065 20170310 RGD associated with heart failure; protein:decreased activity:plasma: 1307404 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6435583 1307404 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:7240710 20130221 OMIM 1307404 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency PMID:10361121|PMID:11192751|PMID:11307839|PMID:11686319|PMID:11713457|PMID:12399451|PMID:12591924|PMID:12907439|PMID:1325679|PMID:1360174|PMID:1421387|PMID:14347873|PMID:1469094|PMID:14754620|PMID:1483705|PMID:1483709|PMID:15164384|PMID:1536946|PMID:1551681|PMID:1555650|PMID:16268490|PMID:16620552|PMID:16705712|PMID:17576681|PMID:17849067|PMID:1868237|PMID:1873224|PMID:18954896|PMID:1906811|PMID:19277409|PMID:1932746|PMID:1977621|PMID:1998601|PMID:20088933|PMID:2012760|PMID:20683322|PMID:2093312|PMID:21264449|PMID:21325262|PMID:2229057|PMID:22398878|PMID:22481271|PMID:22498748|PMID:22627591|PMID:23329010|PMID:23358206|PMID:2336381|PMID:2349545|PMID:2363123|PMID:2365065|PMID:2372510|PMID:23910795|PMID:23932013|PMID:24055113|PMID:24072242|PMID:24082793|PMID:24121110|PMID:24158114|PMID:24162787|PMID:24196373|PMID:24956267|PMID:25298121|PMID:25312341|PMID:25341889|PMID:25466846|PMID:25522812|PMID:25637381|PMID:25741868|PMID:25837307|PMID:2602168|PMID:2615648|PMID:26748602|PMID:27098529|PMID:27283015|PMID:27322195|PMID:27749296|PMID:27838551|PMID:2794060|PMID:28166811|PMID:28174134|PMID:28300866|PMID:28317092|PMID:28492532|PMID:28607330|PMID:28743742|PMID:29071478|PMID:29153735|PMID:2917133|PMID:29215785|PMID:29296762|PMID:29662868|PMID:29708875|PMID:2983542|PMID:29902631|PMID:30046692|PMID:3055413|PMID:30721820|PMID:3080419|PMID:31030036|PMID:31064749|PMID:31157679|PMID:3141397|PMID:3162733|PMID:3169232|PMID:3179438|PMID:3179448|PMID:3187951|PMID:31885188|PMID:3191114|PMID:3238650|PMID:33367661|PMID:3350974|PMID:3360140|PMID:33614741|PMID:33917853|PMID:3413737|PMID:34355501|PMID:3472589|PMID:34800304|PMID:3512602|PMID:3563966|PMID:3563974|PMID:3567355|PMID:3580302|PMID:3605071|PMID:3663508|PMID:3715788|PMID:3775688|PMID:3805013|PMID:3828226|PMID:3960724|PMID:4049307|PMID:4082101|PMID:6204398|PMID:6572945|PMID:6582486|PMID:6636045|PMID:6871107|PMID:6871478|PMID:7082587|PMID:7455996|PMID:7734360|PMID:7863481|PMID:7949130|PMID:7981186|PMID:7989582|PMID:8217824|PMID:8274732|PMID:8401542|PMID:8443391|PMID:8476848|PMID:8486379|PMID:8664906|PMID:9157604|PMID:9493570|PMID:9536098|PMID:9845533 1307404 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency susceptibility ISO RGD:1316583 D RGD:1599321|PMID:3162535 20070130 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:4193 intracranial thrombosis ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 1307404 Serpinc1 serpin family C member 1 gene DOID:630 genetic disease ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307404 Serpinc1 serpin family C member 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1307404 Serpinc1 serpin family C member 1 gene DOID:8805 intermediate coronary syndrome treatment ISO RGD:1316583 D RGD:11035255|PMID:8122184 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316583 D RGD:1599333|PMID:15792522 20070130 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316584 D RGD:1599327|PMID:16440418 20160212 RGD associated with Melanoma 1307404 Serpinc1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1316583 D RGD:1599327|PMID:16440418 20070130 RGD associated with Adenocarcinoma, Colon 1307404 Serpinc1 serpin family C member 1 gene DOID:9000998 Brain Injuries ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21534203 1307404 Serpinc1 serpin family C member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1316583 D RGD:1599330|PMID:16124052 20070130 RGD associated with Inflammatory Bowel Diseases 1307404 Serpinc1 serpin family C member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7923645 1307404 Serpinc1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10450597|PMID:24726586 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1316583 D RGD:11038771|PMID:8589354 20160224 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:11035273|PMID:22781611 20160215 RGD protein:decreased expression:plasma 1307404 Serpinc1 serpin family C member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1316583 D RGD:11035266|PMID:18458955 20160215 RGD associated with Peritonitis 1307404 Serpinc1 serpin family C member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 1307404 Serpinc1 serpin family C member 1 gene DOID:9002906 Multiple Organ Failure disease_progression ISO RGD:1316583 D RGD:11035250|PMID:9630308 20160212 RGD associated with Disseminated Intravascular Coagulation 1307404 Serpinc1 serpin family C member 1 gene DOID:9003121 Thromboembolism ISO RGD:1316583 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1483705|PMID:1977621|PMID:25741868|PMID:28492532|PMID:31064749|PMID:3472589 1307404 Serpinc1 serpin family C member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:453287 1307404 Serpinc1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316583 D RGD:11035248|PMID:23932013 20160212 RGD DNA:missense mutations: :multiple 1307404 Serpinc1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:55783|PMID:6435583|PMID:8810955 1307404 Serpinc1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:1483705|PMID:1555650|PMID:1977621|PMID:22498748|PMID:2336381|PMID:24072242|PMID:24158114|PMID:25741868|PMID:26748602|PMID:28492532|PMID:29215785|PMID:31064749|PMID:3472589 1307404 Serpinc1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316584 D RGD:11035247|PMID:23550037 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4089794 1307404 Serpinc1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1316583 D RGD:11035263|PMID:22563168 20160215 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1316583 D RGD:11035256|PMID:17940748 20160212 RGD associated with Endotoxemia 1307404 Serpinc1 serpin family C member 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316583 D RGD:10402179|PMID:20047080 20160212 RGD associated with Inflammation 1307404 Serpinc1 serpin family C member 1 gene DOID:9005036 Bacteremia treatment ISO RGD:1316583 D RGD:11035251|PMID:2679067 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005372 Inflammation IEP D RGD:11035259|PMID:17850787 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1316583 D RGD:1599331|PMID:16095456 20070130 RGD associated with Reperfusion Injury 1307404 Serpinc1 serpin family C member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:11035271|PMID:22309505 20160215 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:11035293|PMID:24671746 20160216 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005930 Endotoxemia IDA D RGD:5147765|PMID:21396682 20120322 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005930 Endotoxemia IDA D RGD:5147779|PMID:20519137 20120322 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005930 Endotoxemia IEP D RGD:1599332|PMID:15995859 20070130 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1316583 D RGD:1599326|PMID:16457847 20070130 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:11354006|PMID:26108065 20201210 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury severity IMP D RGD:11354006|PMID:26108065 20170313 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9007096 Stroke ISO RGD:1316583 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 1307404 Serpinc1 serpin family C member 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1316583 D RGD:11035262|PMID:19546838 20160215 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9007621 Craniocerebral Trauma ISO RGD:1316583 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 1307404 Serpinc1 serpin family C member 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1307404 Serpinc1 serpin family C member 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:11035258|PMID:21046505 20160212 RGD 1307404 Serpinc1 serpin family C member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316583 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307404 Serpinc1 serpin family C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316583 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased activity:plasma (human) 1307405 Septin11 septin 11 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349067 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:31673878 1307405 Septin11 septin 11 gene DOID:14749 methylmalonic acidemia ISO RGD:1349067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 1307405 Septin11 septin 11 gene DOID:630 genetic disease ISO RGD:1349067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307405 Septin11 septin 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:2773 contact dermatitis ISO RGD:1316586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:2841 asthma ISO RGD:1316586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21150878 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:289 endometriosis ISO RGD:1316586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:303 substance-related disorder ISO RGD:1316586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:5082 liver cirrhosis ISO RGD:1316586 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:33069761 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1316586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1316586 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316586 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:9005172 Lung Neoplasms ISO RGD:1316586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20562917 1307406 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307407 Dazap2 DAZ associated protein 2 gene DOID:630 genetic disease ISO RGD:1316588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1345627 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345627 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345627 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:630 genetic disease ISO RGD:1345627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307408 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345627 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307409 Rfpl4a ret finger protein-like 4A gene DOID:630 genetic disease ISO RGD:1349182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307410 Tepsin TEPSIN, adaptor related protein complex 4 accessory protein gene DOID:630 genetic disease ISO RGD:1601823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307411 Rbm18 RNA binding motif protein 18 gene DOID:630 genetic disease ISO RGD:1316593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307413 Metap1d methionyl aminopeptidase type 1D (mitochondrial) gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605558 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1307413 Metap1d methionyl aminopeptidase type 1D (mitochondrial) gene DOID:630 genetic disease ISO RGD:1605558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307414 Lgalsl galectin-like gene DOID:630 genetic disease ISO RGD:1606012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307414 Lgalsl galectin-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1316598 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1316598 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:12849 autistic disorder ISO RGD:1316598 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:5419 schizophrenia ISO RGD:1316598 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:630 genetic disease ISO RGD:1316598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316598 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307415 Dusp14 dual specificity phosphatase 14 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1316598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:10652 Alzheimer's disease ISO RGD:1316600 D RGD:10448959|PMID:24023061 20151209 RGD protein:increased expression:cerebral cortex (human) 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:2340 craniosynostosis ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:630 genetic disease ISO RGD:1316600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:65 connective tissue disease ISO RGD:1316600 D RGD:10448928|PMID:2968364 20160202 RGD 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307416 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:9269 maple syrup urine disease ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307417 Cstl1 cystatin-like 1 gene DOID:630 genetic disease ISO RGD:1316602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307418 Ces4a carboxylesterase 4A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307418 Ces4a carboxylesterase 4A gene DOID:0110255 cataract 5 multiple types ISO RGD:1602823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1307418 Ces4a carboxylesterase 4A gene DOID:630 genetic disease ISO RGD:1602823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307419 Nek3 NIMA-related kinase 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316605 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1307419 Nek3 NIMA-related kinase 3 gene DOID:1059 intellectual disability ISO RGD:1316605 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307419 Nek3 NIMA-related kinase 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316605 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307419 Nek3 NIMA-related kinase 3 gene DOID:630 genetic disease ISO RGD:1316605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307420 Plxnc1 plexin C1 gene DOID:0111125 nephronophthisis 18 ISO RGD:1316607 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:28492532 1307420 Plxnc1 plexin C1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1316607 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1307420 Plxnc1 plexin C1 gene DOID:289 endometriosis ISO RGD:1316607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1307420 Plxnc1 plexin C1 gene DOID:630 genetic disease ISO RGD:1316607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307421 Foxi1 forkhead box I1 gene DOID:0060744 Pendred syndrome ISO RGD:1316609 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1307421 Foxi1 forkhead box I1 gene DOID:0060744 Pendred syndrome ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:17503324|PMID:25741868|PMID:28492532|PMID:30311386 1307421 Foxi1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:7240710 20130221 OMIM 1307421 Foxi1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:17503324|PMID:20621367|PMID:20809947|PMID:24860705|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 1307421 Foxi1 forkhead box I1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1316609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 1307421 Foxi1 forkhead box I1 gene DOID:630 genetic disease ISO RGD:1316609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307421 Foxi1 forkhead box I1 gene DOID:9004538 Hearing Loss ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:25741868|PMID:30311386 1307421 Foxi1 forkhead box I1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1316609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1307423 Tmem97 transmembrane protein 97 gene DOID:630 genetic disease ISO RGD:1607046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307424 Irx3 iroquois homeobox 3 gene DOID:0050777 Joubert syndrome ISO RGD:1316613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 1307424 Irx3 iroquois homeobox 3 gene DOID:630 genetic disease ISO RGD:1316613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307424 Irx3 iroquois homeobox 3 gene DOID:850 lung disease ISO RGD:1316613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 1307425 Srsf7 serine and arginine rich splicing factor 7 gene DOID:0080690 RASopathy ISO RGD:1316615 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307425 Srsf7 serine and arginine rich splicing factor 7 gene DOID:3883 Lynch syndrome ISO RGD:1316615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1307425 Srsf7 serine and arginine rich splicing factor 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1316615 D RGD:11039407|PMID:21082031 20160303 RGD mRNA:altered expression:kidney (human) 1307425 Srsf7 serine and arginine rich splicing factor 7 gene DOID:630 genetic disease ISO RGD:1316615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307425 Srsf7 serine and arginine rich splicing factor 7 gene DOID:9002179 Glomerular Hyperfiltration ISO RGD:1316616 D RGD:1299473|PMID:10432394 20160307 RGD mRNA:increased expression:kidney (mouse) 1307426 Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1307426 Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:630 genetic disease ISO RGD:1316617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:29892087|PMID:30775854 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:27854218 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0050700 cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26498160|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28301460|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:30012837|PMID:30547036|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32851336|PMID:32880476|PMID:33134301|PMID:34540771 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1316618 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0060319 cardiac arrest ISO RGD:1316618 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27896284|PMID:28492532|PMID:28798025 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1316618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25741868|PMID:26084686|PMID:28492532|PMID:29247119|PMID:29895960|PMID:30972196 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:7240710 20130425 OMIM 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:16199547|PMID:17576681|PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:21846512|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25979592|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26458567|PMID:26498160|PMID:26604136|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28301460|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29029073|PMID:29247119|PMID:29253866|PMID:29367541|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:29915098|PMID:29961767|PMID:30012837|PMID:30165862|PMID:30262924|PMID:30262925|PMID:30276801|PMID:30487145|PMID:30547036|PMID:30557877|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31198128|PMID:31317183|PMID:31333075|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31583969|PMID:31638414|PMID:31648988|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32344918|PMID:32674065|PMID:32746448|PMID:32789579|PMID:32789749|PMID:32817827|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33029862|PMID:33134301|PMID:33188278|PMID:33450993|PMID:33662488|PMID:34174465|PMID:34486814|PMID:34540771|PMID:35470680|PMID:36417486|PMID:9536098 1307427 Rbm20 RNA binding motif protein 20 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 1307427 Rbm20 RNA binding motif protein 20 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:32187365|PMID:32840935 1307427 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476 1307427 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476|PMID:34540771 1307427 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29367541|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771 1307427 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1316618 D RGD:11067476|PMID:19712804 20221107 RGD DNA:missense mutations:exon 9:multiple (human) 1307427 Rbm20 RNA binding motif protein 20 gene DOID:2843 long QT syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22004663|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:30775854 1307427 Rbm20 RNA binding motif protein 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316618 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1307427 Rbm20 RNA binding motif protein 20 gene DOID:6000 congestive heart failure ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532|PMID:31376648 1307427 Rbm20 RNA binding motif protein 20 gene DOID:630 genetic disease ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307427 Rbm20 RNA binding motif protein 20 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:27496873|PMID:27531932|PMID:27532257|PMID:28492532|PMID:29650543|PMID:29895960|PMID:30547036|PMID:30871348|PMID:30871351|PMID:32187365|PMID:32840935|PMID:33134301|PMID:34540771 1307427 Rbm20 RNA binding motif protein 20 gene DOID:9003163 Heart Block ISO RGD:1316618 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532 1307427 Rbm20 RNA binding motif protein 20 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316618 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:28492532 1307427 Rbm20 RNA binding motif protein 20 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316618 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28492532 1307428 Psmb10 proteasome 20S subunit beta 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307428 Psmb10 proteasome 20S subunit beta 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316619 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1307428 Psmb10 proteasome 20S subunit beta 10 gene DOID:630 genetic disease ISO RGD:1316619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307428 Psmb10 proteasome 20S subunit beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316619 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307428 Psmb10 proteasome 20S subunit beta 10 gene DOID:9009033 Proteasome-Associated Autoinflammatory Syndrome 5 ISO RGD:1316619 D RGD:7240710 20210303 OMIM 1307428 Psmb10 proteasome 20S subunit beta 10 gene DOID:9009033 Proteasome-Associated Autoinflammatory Syndrome 5 ISO RGD:1316619 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 PMID:25741868|PMID:31783057 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:0050952 spastic ataxia ISO RGD:1604894 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:7240710 20170419 OMIM 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:0080054 achondrogenesis type IA ISO RGD:1604894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:7240710 20130221 OMIM 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 PMID:18414213|PMID:21031079|PMID:23042809|PMID:25062847|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29225145 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:630 genetic disease ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21031079|PMID:25062847|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28492532 1307429 Ccdc88c coiled-coil domain containing 88C gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1604894 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316622 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1316622 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:630 genetic disease ISO RGD:1316622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:9263 homocystinuria ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1307430 Pcbp3 poly(rC) binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307432 Pcdhgb8 protocadherin gamma subfamily B, 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343116 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1307432 Pcdhgb8 protocadherin gamma subfamily B, 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343116 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307432 Pcdhgb8 protocadherin gamma subfamily B, 8 gene DOID:630 genetic disease ISO RGD:1343116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307432 Pcdhgb8 protocadherin gamma subfamily B, 8 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1343116 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1307432 Pcdhgb8 protocadherin gamma subfamily B, 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343116 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307432 Pcdhgb8 protocadherin gamma subfamily B, 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343116 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307433 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307433 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307433 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307433 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307434 Gtf3c6 general transcription factor 3C subunit 6 gene DOID:630 genetic disease ISO RGD:1316627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307435 Gtf2ird2 GTF2I repeat domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604573 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307435 Gtf2ird2 GTF2I repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1604573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307436 Tbc1d2b TBC1 domain family, member 2B gene DOID:2717 Bloom syndrome ISO RGD:1604393 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307436 Tbc1d2b TBC1 domain family, member 2B gene DOID:630 genetic disease ISO RGD:1604393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307436 Tbc1d2b TBC1 domain family, member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:7240710 20210818 OMIM 1307436 Tbc1d2b TBC1 domain family, member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth PMID:25741868|PMID:32623794 1307436 Tbc1d2b TBC1 domain family, member 2B gene DOID:9256 colorectal cancer ISO RGD:1604393 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307437 Gpr162 G protein-coupled receptor 162 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1307437 Gpr162 G protein-coupled receptor 162 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603661 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1307437 Gpr162 G protein-coupled receptor 162 gene DOID:0111621 Temtamy syndrome ISO RGD:1603661 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1307437 Gpr162 G protein-coupled receptor 162 gene DOID:630 genetic disease ISO RGD:1603661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307437 Gpr162 G protein-coupled receptor 162 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603661 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1603159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603159 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603159 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1307439 Lmntd2 lamin tail domain containing 2 gene DOID:630 genetic disease ISO RGD:1603159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307440 Lrrc58 leucine rich repeat containing 58 gene DOID:630 genetic disease ISO RGD:1606179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307441 Siglec10 sialic acid binding Ig-like lectin 10 gene DOID:630 genetic disease ISO RGD:1316634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307442 Arid4a AT-rich interaction domain 4A gene DOID:0110992 Joubert syndrome 23 ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 1307442 Arid4a AT-rich interaction domain 4A gene DOID:630 genetic disease ISO RGD:1316636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307442 Arid4a AT-rich interaction domain 4A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316636 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1307442 Arid4a AT-rich interaction domain 4A gene DOID:9119 acute myeloid leukemia ISS RGD:1316637 D RGD:13592920 20180518 MouseDO OMIM:601626 1307442 Arid4a AT-rich interaction domain 4A gene DOID:9538 multiple myeloma ISO RGD:1316636 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1307443 RGD1307443 similar to mKIAA0319 protein gene DOID:630 genetic disease ISO RGD:1348294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307444 Tmigd1 transmembrane and immunoglobulin domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1307444 Tmigd1 transmembrane and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307446 Nlrp5 NLR family, pyrin domain containing 5 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1348361 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:20738330|PMID:26323243 1307446 Nlrp5 NLR family, pyrin domain containing 5 gene DOID:630 genetic disease ISO RGD:1348361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307446 Nlrp5 NLR family, pyrin domain containing 5 gene DOID:9004994 Embryo Loss ISO RGD:1348361 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 1307446 Nlrp5 NLR family, pyrin domain containing 5 gene DOID:9006204 Oocyte/Zygote/Embryo Maturation Arrest 19 ISO RGD:1348361 D RGD:7240710 20230505 OMIM 1307446 Nlrp5 NLR family, pyrin domain containing 5 gene DOID:9006204 Oocyte/Zygote/Embryo Maturation Arrest 19 ISO RGD:1348361 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 PMID:35091966|PMID:35946397 1307447 Dolpp1 dolichyldiphosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307447 Dolpp1 dolichyldiphosphatase 1 gene DOID:630 genetic disease ISO RGD:1316643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307448 Hist2h4 histone cluster 2, H4 gene DOID:1059 intellectual disability ISO RGD:1342856 D RGD:11554173 20170214 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1307448 Hist2h4 histone cluster 2, H4 gene DOID:630 genetic disease ISO RGD:1342856 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307449 Gin1 gypsy retrotransposon integrase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307449 Gin1 gypsy retrotransposon integrase 1 gene DOID:630 genetic disease ISO RGD:1603218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307449 Gin1 gypsy retrotransposon integrase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1307449 Gin1 gypsy retrotransposon integrase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603218 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307449 Gin1 gypsy retrotransposon integrase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307450 Zcchc9 zinc finger CCHC-type containing 9 gene DOID:630 genetic disease ISO RGD:1316648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307450 Zcchc9 zinc finger CCHC-type containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316648 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307451 Ubxn4 UBX domain protein 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 1307451 Ubxn4 UBX domain protein 4 gene DOID:630 genetic disease ISO RGD:1316650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307452 Klhl1 kelch-like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316652 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1307452 Klhl1 kelch-like family member 1 gene DOID:630 genetic disease ISO RGD:1316652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316654 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316654 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316654 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316654 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:423 myopathy ISO RGD:1316654 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:23806086|PMID:24088041|PMID:26257172 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:630 genetic disease ISO RGD:1316654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316654 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307453 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9870 galactosemia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316657 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1316657 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:630 genetic disease ISO RGD:1316657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:9003411 Neurodevelopmental Disorder with Language Delay and Seizures ISO RGD:1316657 D RGD:7240710 20221116 OMIM 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:9003411 Neurodevelopmental Disorder with Language Delay and Seizures ISO RGD:1316657 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures PMID:35240055 1307455 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316657 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 1307456 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307456 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307456 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 gene DOID:2340 craniosynostosis ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307456 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 gene DOID:630 genetic disease ISO RGD:1316659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307456 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307456 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 gene DOID:9269 maple syrup urine disease ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307457 Dusp19 dual specificity phosphatase 19 gene DOID:13938 amenorrhea ISO RGD:1316661 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1307457 Dusp19 dual specificity phosphatase 19 gene DOID:630 genetic disease ISO RGD:1316661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307458 Smpdl3b sphingomyelin phosphodiesterase, acid-like 3B gene DOID:630 genetic disease ISO RGD:1316663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:0050545 visceral heterotaxy ISS RGD:1316666 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:0080205 CAKUT ISO RGD:1316665 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:1316666 D RGD:13592920 20180518 MouseDO OMIM:263200 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:1316665 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:21922595|PMID:25741868|PMID:28492532 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia susceptibility ISO RGD:1316665 D RGD:7240710 20200219 OMIM 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:14766 renal agenesis ISO RGD:1316665 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:2975 cystic kidney disease ISS RGD:1316666 D RGD:13592920 20180518 MouseDO 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307459 Bicc1 BicC family RNA binding protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISS RGD:1316666 D RGD:13592920 20180518 MouseDO 1307461 RGD1307461 similar to RIKEN cDNA 6430571L13 gene; similar to g20 protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1307461 RGD1307461 similar to RIKEN cDNA 6430571L13 gene; similar to g20 protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1307461 RGD1307461 similar to RIKEN cDNA 6430571L13 gene; similar to g20 protein gene DOID:630 genetic disease ISO RGD:1343802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307462 Cldn17 claudin 17 gene DOID:630 genetic disease ISO RGD:1316669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307463 Krt14 keratin 14 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISS RGD:1316672 D RGD:13592920 20211104 MouseDO OMIM:131760 1307463 Krt14 keratin 14 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:10583131|PMID:11331879|PMID:11710919|PMID:11990248|PMID:16098032|PMID:1703046|PMID:1717157|PMID:1720261|PMID:20151404|PMID:20301543|PMID:21623745|PMID:2365356|PMID:25326635|PMID:25741868|PMID:26743602|PMID:28492532|PMID:31957133|PMID:7682883 1307463 Krt14 keratin 14 gene DOID:0111342 dermatopathia pigmentosa reticularis ISO RGD:1316671 D RGD:7240710 20130221 OMIM 1307463 Krt14 keratin 14 gene DOID:0111342 dermatopathia pigmentosa reticularis ISO RGD:1316671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis PMID:10730767|PMID:11710919|PMID:1303619|PMID:16098032|PMID:1717157|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28492532 1307463 Krt14 keratin 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16960809 1307463 Krt14 keratin 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:7240710 20130221 OMIM 1307463 Krt14 keratin 14 gene DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome ISO RGD:1316671 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome PMID:13141721|PMID:8496458 1307463 Krt14 keratin 14 gene DOID:10123 pigmentation disease ISO RGD:1316671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16960809 1307463 Krt14 keratin 14 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:1316671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490 1307463 Krt14 keratin 14 gene DOID:1749 squamous cell carcinoma ISO RGD:1316671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 1307463 Krt14 keratin 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316671 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 1307463 Krt14 keratin 14 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1316671 D RGD:11554173 20190430 CTD CTD Direct Evidence: marker/mechanism 1307463 Krt14 keratin 14 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive PMID:10583131|PMID:10971341|PMID:11331879|PMID:12925204|PMID:16098032|PMID:16614722|PMID:1717157|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25326635|PMID:25741868|PMID:26743602|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490|PMID:31957133|PMID:8601736 1307463 Krt14 keratin 14 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1316671 D RGD:1600173|PMID:1717157 20070301 RGD DNA:point mutations 1307463 Krt14 keratin 14 gene DOID:630 genetic disease ISO RGD:1316671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307463 Krt14 keratin 14 gene DOID:7134 esophagus small cell carcinoma IEP D RGD:1600174|PMID:16140947 20070301 RGD protein:increased expression:esophagus 1307463 Krt14 keratin 14 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1316671 D RGD:7240710 20211027 OMIM 1307463 Krt14 keratin 14 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:10583131|PMID:11331879|PMID:11710919|PMID:11990248|PMID:16098032|PMID:1703046|PMID:1717157|PMID:1720261|PMID:20151404|PMID:20301543|PMID:21623745|PMID:2365356|PMID:25326635|PMID:25741868|PMID:26743602|PMID:28492532|PMID:31957133|PMID:7682883 1307463 Krt14 keratin 14 gene DOID:9000954 Parakeratosis IEP D RGD:1600175|PMID:15809047 20070301 RGD 1307463 Krt14 keratin 14 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:1600180|PMID:9876218 20070301 RGD mRNA:decreased expression:epithelial cell 1307463 Krt14 keratin 14 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1316671 D RGD:7240710 20211103 OMIM 1307463 Krt14 keratin 14 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1316671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10583131|PMID:10730767|PMID:11331879|PMID:11710919|PMID:16098032|PMID:16439965|PMID:1717157|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25326635|PMID:25741868|PMID:26743602|PMID:27283507|PMID:28492532|PMID:31957133|PMID:9804355 1307463 Krt14 keratin 14 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1316671 D RGD:7240710 20211103 OMIM 1307463 Krt14 keratin 14 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1316671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:11710919|PMID:17039244|PMID:23746086|PMID:25741868|PMID:27283507|PMID:28492532|PMID:32884918|PMID:32885477|PMID:7506606|PMID:7561171|PMID:9284105 1307463 Krt14 keratin 14 gene DOID:9005873 Tongue Neoplasms ISO RGD:1316671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 1307463 Krt14 keratin 14 gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1316671 D RGD:7240710 20130221 OMIM 1307463 Krt14 keratin 14 gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1316671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490|PMID:7525407|PMID:7525408|PMID:7526933|PMID:8875963 1307463 Krt14 keratin 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 1307463 Krt14 keratin 14 gene DOID:9008939 Breast Neoplasms ISO RGD:1316671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 1307464 Banp Btg3 associated nuclear protein gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1307464 Banp Btg3 associated nuclear protein gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1307464 Banp Btg3 associated nuclear protein gene DOID:3070 high grade glioma ISO RGD:1316673 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1307464 Banp Btg3 associated nuclear protein gene DOID:630 genetic disease ISO RGD:1316673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307464 Banp Btg3 associated nuclear protein gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316673 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 1307464 Banp Btg3 associated nuclear protein gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316673 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:7240710 20140911 OMIM 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 PMID:23313956|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28711739 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1316675 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:11162 respiratory failure ISO RGD:1316675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:539 ophthalmoplegia ISO RGD:1316675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:630 genetic disease ISO RGD:1316675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 1307465 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:9000498 Emaciation ISO RGD:1316675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 1307466 Cpne7 copine 7 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1307466 Cpne7 copine 7 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1307466 Cpne7 copine 7 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316677 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 1307466 Cpne7 copine 7 gene DOID:13636 Fanconi anemia ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1307466 Cpne7 copine 7 gene DOID:14780 KBG syndrome ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1307466 Cpne7 copine 7 gene DOID:630 genetic disease ISO RGD:1316677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307466 Cpne7 copine 7 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316677 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1307467 Setsip SET like protein gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:6480423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 PMID:25741868 1307468 Rell1 RELT-like 1 gene DOID:630 genetic disease ISO RGD:1625842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307468 Rell1 RELT-like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1625842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12955722|PMID:15059067|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25168418|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:29098742|PMID:29904161|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9399890|PMID:9536098 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:10907 microcephaly ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:14780 KBG syndrome ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:2394 ovarian cancer ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:630 genetic disease ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1307469 Zfp276 zinc finger protein (C2H2 type) 276 gene DOID:769 neuroblastoma ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 1307471 Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316685 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1307471 Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1316685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307471 Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316685 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307472 Pkp1 plakophilin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1307472 Pkp1 plakophilin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316687 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307472 Pkp1 plakophilin 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1316687 D RGD:1599084|PMID:9326952 20070116 RGD 1307472 Pkp1 plakophilin 1 gene DOID:630 genetic disease ISO RGD:1316687 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307472 Pkp1 plakophilin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1307472 Pkp1 plakophilin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1307472 Pkp1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:7240710 20130425 OMIM 1307472 Pkp1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:10951270|PMID:11994137|PMID:16781314|PMID:24073657|PMID:25741868|PMID:28492532|PMID:9326952 1307472 Pkp1 plakophilin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316687 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307474 Rpp38 ribonuclease P/MRP subunit p38 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316690 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1307474 Rpp38 ribonuclease P/MRP subunit p38 gene DOID:1909 melanoma ISO RGD:1316690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1307474 Rpp38 ribonuclease P/MRP subunit p38 gene DOID:630 genetic disease ISO RGD:1316690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307475 Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1316692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1307475 Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1316692 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307476 Pdik1l PDLIM1 interacting kinase 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1352576 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1307476 Pdik1l PDLIM1 interacting kinase 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1352576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1307476 Pdik1l PDLIM1 interacting kinase 1 like gene DOID:630 genetic disease ISO RGD:1352576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307477 Mfrp membrane frizzled-related protein gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:11553925|PMID:19753314 20161018 RGD DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human) 1307477 Mfrp membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:7240710 20130221 OMIM 1307477 Mfrp membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 1307477 Mfrp membrane frizzled-related protein gene DOID:0060869 late-onset retinal degeneration ISO RGD:1316695 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 1307477 Mfrp membrane frizzled-related protein gene DOID:0080634 nanophthalmos ISO RGD:1316695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 1307477 Mfrp membrane frizzled-related protein gene DOID:0080690 RASopathy ISO RGD:1316695 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:0111971 immunodeficiency 18 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:0111972 immunodeficiency 19 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:0111973 immunodeficiency 17 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316695 D RGD:11553921|PMID:22605927 20161017 RGD DNA:deletio:exon:c.498delC(P.166PfsX26)(human) 1307477 Mfrp membrane frizzled-related protein gene DOID:10629 microphthalmia ISO RGD:1316695 D RGD:11553922|PMID:23742260 20161017 RGD DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) 1307477 Mfrp membrane frizzled-related protein gene DOID:11105 fundus albipunctatus ISS RGD:1620492 D RGD:13592920 20180518 MouseDO OMIM:136880 1307477 Mfrp membrane frizzled-related protein gene DOID:5419 schizophrenia ISO RGD:1316695 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307477 Mfrp membrane frizzled-related protein gene DOID:630 genetic disease ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:8466 retinal degeneration ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 1307477 Mfrp membrane frizzled-related protein gene DOID:8466 retinal degeneration ISO RGD:1620492 D RGD:11553928|PMID:12140190 20161018 RGD DNA:mutation:splice junction: 1307477 Mfrp membrane frizzled-related protein gene DOID:8466 retinal degeneration treatment ISO RGD:1620492 D RGD:11553878|PMID:22142163 20161017 RGD 1307477 Mfrp membrane frizzled-related protein gene DOID:8501 fundus dystrophy ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 1307477 Mfrp membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:7240710 20130221 OMIM 1307477 Mfrp membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:28492532|PMID:32996714 1307477 Mfrp membrane frizzled-related protein gene DOID:9002594 High Hyperopia ISO RGD:1316695 D RGD:11076374|PMID:26583794 20161018 RGD DNA:missense, deletion, duplication mutations:cds: 1307477 Mfrp membrane frizzled-related protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316695 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307477 Mfrp membrane frizzled-related protein gene DOID:9007661 Dwarfism ISO RGD:1316695 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307478 Ms4a10 membrane spanning 4-domains A10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1307478 Ms4a10 membrane spanning 4-domains A10 gene DOID:1059 intellectual disability ISO RGD:1316696 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307478 Ms4a10 membrane spanning 4-domains A10 gene DOID:630 genetic disease ISO RGD:1316696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307479 Gapvd1 GTPase activating protein and VPS9 domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1307480 Wdr3 WD repeat domain 3 gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:1316699 D RGD:11041898|PMID:20578902 20160401 RGD DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) 1307480 Wdr3 WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1316699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307481 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602086 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1307481 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:2717 Bloom syndrome ISO RGD:1602086 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307481 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:630 genetic disease ISO RGD:1602086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307481 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:9256 colorectal cancer ISO RGD:1602086 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1316704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:4621 holoprosencephaly ISO RGD:1316704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:7240710 20190731 OMIM 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition PMID:10797420|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:9536098 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1316704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:1316704 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307483 Tonsl tonsoku-like, DNA repair protein gene DOID:9008086 Developmental Disabilities ISO RGD:1316704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1307485 Cpeb2 cytoplasmic polyadenylation element binding protein 2 gene DOID:630 genetic disease ISO RGD:1316707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307486 Hbz hemoglobin subunit zeta gene DOID:1099 alpha thalassemia ISO RGD:1316709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:24025420|PMID:2566576|PMID:26114741|PMID:28791910|PMID:2986746|PMID:3191033|PMID:8460633|PMID:9099846 1307486 Hbz hemoglobin subunit zeta gene DOID:630 genetic disease ISO RGD:1316709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1603924 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:0112311 male infertility due to acephalic spermatozoa IAGP D RGD:150521555|PMID:19710508 20211111 RGD DNA:insertion:intron 10 (rat) 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1603924 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:12177 common variable immunodeficiency ISO RGD:1603924 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:2729 dyskeratosis congenita ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1307488 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:630 genetic disease ISO RGD:1603924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307490 Rundc1 RUN domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1316714 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1307490 Rundc1 RUN domain containing 1 gene DOID:630 genetic disease ISO RGD:1316714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307491 Rfx6 regulatory factor X, 6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316716 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1307491 Rfx6 regulatory factor X, 6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1307491 Rfx6 regulatory factor X, 6 gene DOID:1059 intellectual disability ISO RGD:1316716 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1307491 Rfx6 regulatory factor X, 6 gene DOID:10907 microcephaly ISO RGD:1316716 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1307491 Rfx6 regulatory factor X, 6 gene DOID:1826 epilepsy ISO RGD:1316716 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307491 Rfx6 regulatory factor X, 6 gene DOID:1909 melanoma ISO RGD:1316716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1307491 Rfx6 regulatory factor X, 6 gene DOID:630 genetic disease ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307491 Rfx6 regulatory factor X, 6 gene DOID:9000495 Tremor ISO RGD:1316716 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1307491 Rfx6 regulatory factor X, 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24390282 1307491 Rfx6 regulatory factor X, 6 gene DOID:9006077 Martinez-Frias Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 1307491 Rfx6 regulatory factor X, 6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:7240710 20141015 OMIM 1307491 Rfx6 regulatory factor X, 6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitchell-Riley syndrome PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 1307491 Rfx6 regulatory factor X, 6 gene DOID:9351 diabetes mellitus ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15592663|PMID:18414213|PMID:20148032|PMID:25741868|PMID:28492532|PMID:29026101 1307491 Rfx6 regulatory factor X, 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307492 Smc5 structural maintenance of chromosomes 5 gene DOID:630 genetic disease ISO RGD:1316718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307492 Smc5 structural maintenance of chromosomes 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307492 Smc5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:7240710 20230125 OMIM 1307492 Smc5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 2 PMID:36333305 1307493 Tlcd3a TLC domain containing 3A gene DOID:0111406 Fraser syndrome 3 ISO RGD:1605629 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1307493 Tlcd3a TLC domain containing 3A gene DOID:630 genetic disease ISO RGD:1605629 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307494 Tcp11l2 t-complex 11 like 2 gene DOID:630 genetic disease ISO RGD:1605554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307495 Pnpla5 patatin-like phospholipase domain containing 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1343707 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1307495 Pnpla5 patatin-like phospholipase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1343707 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307495 Pnpla5 patatin-like phospholipase domain containing 5 gene DOID:630 genetic disease ISO RGD:1343707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307496 Plxdc1 plexin domain containing 1 gene DOID:630 genetic disease ISO RGD:1352937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307496 Plxdc1 plexin domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352937 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307497 R3hdm1 R3H domain containing 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 1307497 R3hdm1 R3H domain containing 1 gene DOID:630 genetic disease ISO RGD:1316725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307498 Knl1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:7240710 20210317 OMIM 1307498 Knl1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive PMID:10521316|PMID:18414213|PMID:22983954|PMID:25741868|PMID:26626498|PMID:27149178|PMID:28454995|PMID:28492532 1307498 Knl1 kinetochore scaffold 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1603976 D RGD:9685043|PMID:22983954 20141216 RGD DNA:mutation:cds: c.6125 G>A,p. M2041I(human) 1307498 Knl1 kinetochore scaffold 1 gene DOID:0080600 COVID-19 ISO RGD:1603976 D RGD:9068941 20210319 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307498 Knl1 kinetochore scaffold 1 gene DOID:10907 microcephaly ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 1307498 Knl1 kinetochore scaffold 1 gene DOID:1115 sarcoma treatment ISO RGD:1603976 D RGD:151660332|PMID:31089155 20220303 RGD 1307498 Knl1 kinetochore scaffold 1 gene DOID:2717 Bloom syndrome ISO RGD:1603976 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307498 Knl1 kinetochore scaffold 1 gene DOID:630 genetic disease ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28454995|PMID:28492532 1307498 Knl1 kinetochore scaffold 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603976 D RGD:11554173 20210309 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1307498 Knl1 kinetochore scaffold 1 gene DOID:9256 colorectal cancer ISO RGD:1603976 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307499 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1307499 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307499 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:7240710 20190315 OMIM 1307499 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group V PMID:27500492 1307499 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:630 genetic disease ISO RGD:1316729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307499 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1316729 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0080690 RASopathy ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 1307500 Rnf214 ring finger protein 214 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 PMID:28492532 1307500 Rnf214 ring finger protein 214 gene DOID:1059 intellectual disability ISO RGD:1604189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307500 Rnf214 ring finger protein 214 gene DOID:630 genetic disease ISO RGD:1604189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307500 Rnf214 ring finger protein 214 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604189 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307500 Rnf214 ring finger protein 214 gene DOID:9007661 Dwarfism ISO RGD:1604189 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:7240710 20130425 OMIM 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY PMID:16199547|PMID:17576681|PMID:23176824|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26431026|PMID:26542466|PMID:27406698|PMID:28492532|PMID:28940097|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:10907 microcephaly ISO RGD:1316735 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1316735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26555167 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23176824 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29908077|PMID:32657593 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1316735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23176824 1307503 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1316735 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:25741868|PMID:28492532 1307504 Krtap3-3 keratin associated protein 3-3 gene DOID:630 genetic disease ISO RGD:1316737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307506 Gpx8 glutathione peroxidase 8 gene DOID:630 genetic disease ISO RGD:1603792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307506 Gpx8 glutathione peroxidase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307506 Gpx8 glutathione peroxidase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603792 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307509 Larp1b La ribonucleoprotein 1B gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1605666 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 1307509 Larp1b La ribonucleoprotein 1B gene DOID:10283 prostate cancer ISO RGD:1605666 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307509 Larp1b La ribonucleoprotein 1B gene DOID:630 genetic disease ISO RGD:1605666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307510 Zfp330 zinc finger protein 330 gene DOID:630 genetic disease ISO RGD:1316746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307511 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:1059 intellectual disability ISO RGD:1316748 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307511 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316748 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:32969598 1307511 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:7240710 20210203 OMIM 1307511 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 PMID:25741868|PMID:32969598 1307511 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke IMP D RGD:11040458|PMID:26888427 20160812 RGD incidence 40% in heterozygous SHR-Ndufc2 rats vs 0% in parental SHR rats after 3 months of stroke-permissive diet 1307511 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke susceptibility ISO RGD:1316748 D RGD:11040458|PMID:26888427 20181105 RGD DNA:SNPs,haplotype::rs641836, rs11237379 (human) 1307512 Yipf2 Yip1 domain family, member 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1307512 Yipf2 Yip1 domain family, member 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1307512 Yipf2 Yip1 domain family, member 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1307512 Yipf2 Yip1 domain family, member 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1604600 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 1307512 Yipf2 Yip1 domain family, member 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1604600 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1307512 Yipf2 Yip1 domain family, member 2 gene DOID:630 genetic disease ISO RGD:1604600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307513 Pmel premelanosome protein gene DOID:1909 melanoma ISO RGD:1316751 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 1307513 Pmel premelanosome protein gene DOID:630 genetic disease ISO RGD:1316751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307514 Akr1c15 aldo-keto reductase family 1, member C15 gene DOID:5419 schizophrenia ISO RGD:1316753 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307515 Adam11 ADAM metallopeptidase domain 11 gene DOID:630 genetic disease ISO RGD:1316754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307516 Ccdc32 coiled-coil domain containing 32 gene DOID:2717 Bloom syndrome ISO RGD:1605016 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307516 Ccdc32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:7240710 20201230 OMIM 1307516 Ccdc32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome PMID:25741868|PMID:32307552|PMID:35451546 1307516 Ccdc32 coiled-coil domain containing 32 gene DOID:9256 colorectal cancer ISO RGD:1605016 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307517 Sesn1 sestrin 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1307517 Sesn1 sestrin 1 gene DOID:630 genetic disease ISO RGD:1316757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307521 Klhl6 kelch-like family member 6 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1316764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1307521 Klhl6 kelch-like family member 6 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1316764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1307521 Klhl6 kelch-like family member 6 gene DOID:0111546 Currarino syndrome ISO RGD:1316764 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1307521 Klhl6 kelch-like family member 6 gene DOID:2377 multiple sclerosis ISO RGD:1316764 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1307521 Klhl6 kelch-like family member 6 gene DOID:630 genetic disease ISO RGD:1316764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307521 Klhl6 kelch-like family member 6 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1316764 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 1307522 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316766 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1307522 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1307522 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:1826 epilepsy ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307522 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316766 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307522 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316766 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1307522 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:630 genetic disease ISO RGD:1316766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307524 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:10283 prostate cancer ISO RGD:1316770 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307524 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:630 genetic disease ISO RGD:1316770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307525 Kiaa0408L Kiaa0408-like gene DOID:630 genetic disease ISO RGD:1345855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307526 Sltm SAFB-like, transcription modulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605637 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:27666822 1307526 Sltm SAFB-like, transcription modulator gene DOID:2717 Bloom syndrome ISO RGD:1605637 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307526 Sltm SAFB-like, transcription modulator gene DOID:630 genetic disease ISO RGD:1605637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307526 Sltm SAFB-like, transcription modulator gene DOID:9256 colorectal cancer ISO RGD:1605637 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:0050902 medulloblastoma ISO RGD:1316774 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISS RGD:1316775 D RGD:13592920 20180518 MouseDO OMIM:247200 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:4448 macular degeneration ISO RGD:1316774 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1316774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:9003896 Polyps ISO RGD:1316774 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1316774 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 1307527 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316774 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 1307528 Kdm4c lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1307528 Kdm4c lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9587481|PMID:19270706 20141015 RGD mRNA:increased expression:brain (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:1316776 D RGD:9587485|PMID:22072270 20141015 RGD DNA:snps:multiple (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:0060221 Maffucci syndrome ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 1307528 Kdm4c lysine demethylase 4C gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1316776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1307528 Kdm4c lysine demethylase 4C gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1316776 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1307528 Kdm4c lysine demethylase 4C gene DOID:10283 prostate cancer severity ISO RGD:1316776 D RGD:9587486|PMID:20127736 20141015 RGD mRNA:increased expression:prostate gland (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:11934 head and neck cancer susceptibility ISO RGD:1316776 D RGD:9587748|PMID:19339270 20141016 RGD DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:12849 autistic disorder ISO RGD:1316776 D RGD:9587484|PMID:20410850 20141015 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:1612 breast cancer severity ISO RGD:1316776 D RGD:9587745|PMID:24952432 20141016 RGD DNA:snp:cds:p.D396N (rs2296067) (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:1909 melanoma ISO RGD:1316776 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1307528 Kdm4c lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1316776 D RGD:9587746|PMID:24224128 20141016 RGD protein:increased expression:esophageal epithelium, nucleus (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1316776 D RGD:9587752|PMID:15805246 20141016 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:4450 renal cell carcinoma ISO RGD:1316776 D RGD:9587741|PMID:22483639 20141016 RGD DNA:deletion:cds (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:4624 Ollier disease ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868 1307528 Kdm4c lysine demethylase 4C gene DOID:5517 stomach carcinoma severity ISO RGD:1316776 D RGD:9588260|PMID:24418035 20141023 RGD protein:increased expression:stomach (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:630 genetic disease ISO RGD:1316776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307528 Kdm4c lysine demethylase 4C gene DOID:9004118 Experimental Melanoma ISO RGD:1316776 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1307528 Kdm4c lysine demethylase 4C gene DOID:9008939 Breast Neoplasms ISO RGD:1316776 D RGD:9587482|PMID:23129632 20141015 RGD human gene in a mouse model 1307528 Kdm4c lysine demethylase 4C gene DOID:9008939 Breast Neoplasms severity ISO RGD:1316776 D RGD:9587479|PMID:19784073 20141015 RGD mRNA:increased expression:breast (human) 1307528 Kdm4c lysine demethylase 4C gene DOID:9268 glycine encephalopathy ISO RGD:1316776 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 1307528 Kdm4c lysine demethylase 4C gene DOID:986 alopecia areata ISO RGD:1316776 D RGD:9587460|PMID:21936853 20141015 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1307531 Mrpl47 mitochondrial ribosomal protein L47 gene DOID:0111546 Currarino syndrome ISO RGD:1316780 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1307531 Mrpl47 mitochondrial ribosomal protein L47 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1316780 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1307531 Mrpl47 mitochondrial ribosomal protein L47 gene DOID:630 genetic disease ISO RGD:1316780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316782 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1316782 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1316782 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:7240710 20170503 OMIM 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:15924140|PMID:16690980|PMID:16885196|PMID:17576681|PMID:18625743|PMID:23161749|PMID:24033266|PMID:25135595|PMID:25741868|PMID:27522156|PMID:28492532|PMID:29106381|PMID:30814731|PMID:31222290|PMID:9536098 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:630 genetic disease ISO RGD:1316782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316782 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:16690980|PMID:16885196|PMID:28492532 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1307532 Ifngr2 interferon gamma receptor 2 gene DOID:9744 type 1 diabetes mellitus ISS RGD:1316783 D RGD:13592920 20180518 MouseDO OMIM:222100 1307533 Ascl4 achaete-scute family bHLH transcription factor 4 gene DOID:630 genetic disease ISO RGD:1316784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307534 Parp9 poly (ADP-ribose) polymerase family, member 9 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1307534 Parp9 poly (ADP-ribose) polymerase family, member 9 gene DOID:630 genetic disease ISO RGD:1347584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307534 Parp9 poly (ADP-ribose) polymerase family, member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347584 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1307534 Parp9 poly (ADP-ribose) polymerase family, member 9 gene DOID:9270 alkaptonuria ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1307535 Lrp1 LDL receptor related protein 1 gene DOID:0050700 cardiomyopathy ISS RGD:1316787 D RGD:13592920 20180518 MouseDO 1307535 Lrp1 LDL receptor related protein 1 gene DOID:0050855 renal fibrosis ISO RGD:1316787 D RGD:7243102|PMID:18037995 20130501 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316786 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1307535 Lrp1 LDL receptor related protein 1 gene DOID:0060327 omphalocele ISS RGD:1316787 D RGD:13592920 20180518 MouseDO OMIM:164750 1307535 Lrp1 LDL receptor related protein 1 gene DOID:0080169 tricuspid atresia ISO RGD:1316786 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Tricuspid atresia PMID:25741868 1307535 Lrp1 LDL receptor related protein 1 gene DOID:0080751 keratosis pilaris atrophicans ISO RGD:1316786 D RGD:7240710 20190315 OMIM 1307535 Lrp1 LDL receptor related protein 1 gene DOID:10283 prostate cancer ISO RGD:1316786 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1307535 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316786 D RGD:1358747|PMID:9635959 19990101 RGD DNA:SNP:exon 3:C>T (human) 1307535 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:13800553|PMID:19150622 20181015 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISS RGD:1316787 D RGD:13592920 20180518 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 1307535 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13799352|PMID:29115637 20181010 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:11044 gastroschisis ISS RGD:1316787 D RGD:13592920 20180518 MouseDO OMIM:230750 1307535 Lrp1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy IEP D RGD:13792690|PMID:26656067 20180920 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1316786 D RGD:13800561|PMID:18060043 20181016 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:12783 migraine without aura ISO RGD:1316786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 1307535 Lrp1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis ISO RGD:1316787 D RGD:1581910|PMID:14739216 20061030 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1316787 D RGD:1625012|PMID:17303763 20070516 RGD associated with Hypercholesterolemia 1307535 Lrp1 LDL receptor related protein 1 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:1316787 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 1307535 Lrp1 LDL receptor related protein 1 gene DOID:5419 schizophrenia ISO RGD:1316786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1307535 Lrp1 LDL receptor related protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316786 D RGD:1581913|PMID:12402342 20061030 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:630 genetic disease ISO RGD:1316786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307535 Lrp1 LDL receptor related protein 1 gene DOID:6364 migraine ISO RGD:1316786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 1307535 Lrp1 LDL receptor related protein 1 gene DOID:6846 familial melanoma ISO RGD:1316786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1307535 Lrp1 LDL receptor related protein 1 gene DOID:8634 prostate carcinoma in situ IEP D RGD:1625030|PMID:14623925 20070517 RGD protein:increased expression:prostate gland 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:13800520|PMID:23867460 20181012 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1316786 D RGD:1581911|PMID:15121769 20061030 RGD 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9000847 Burnett Schwartz Berberian Syndrome ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophodermia vermiculata | ClinVar Annotator: match by term: Keratosis pilaris PMID:25741868|PMID:26142438|PMID:28381441 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1316787 D RGD:13800552|PMID:19299462 20181015 RGD protein:increased expression:cerebellum, spinal cord 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316787 D RGD:13800515|PMID:26237273 20181011 RGD associated with Carbon Tetrachloride Poisoning 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9007748 Retinal Neovascularization IEP D RGD:1625022|PMID:16979164 20070516 RGD protein:increased expression:retina, muller cell 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316786 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:15294142|PMID:25741868 1307535 Lrp1 LDL receptor related protein 1 gene DOID:9351 diabetes mellitus treatment IDA D RGD:13800521|PMID:22889684 20181012 RGD 1307536 Cse1l chromosome segregation 1 like gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1316788 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 1307536 Cse1l chromosome segregation 1 like gene DOID:630 genetic disease ISO RGD:1316788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307536 Cse1l chromosome segregation 1 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316788 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34022224 1307537 Tex56p testis expressed 56 gene DOID:630 genetic disease ISO RGD:1354340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307538 Txndc11 thioredoxin domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1348266 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307538 Txndc11 thioredoxin domain containing 11 gene DOID:630 genetic disease ISO RGD:1348266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307539 Angpt4 angiopoietin 4 gene DOID:630 genetic disease ISO RGD:1316792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307540 Tnrc18 trinucleotide repeat containing 18 gene DOID:11372 megacolon ISO RGD:2291816 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307540 Tnrc18 trinucleotide repeat containing 18 gene DOID:630 genetic disease ISO RGD:2291816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:10283 prostate cancer ISO RGD:1316795 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:2340 craniosynostosis ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:630 genetic disease ISO RGD:1316795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307541 Hipk4 homeodomain interacting protein kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307542 Luc7l LUC7-like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1307542 Luc7l LUC7-like gene DOID:1826 epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1307542 Luc7l LUC7-like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307542 Luc7l LUC7-like gene DOID:630 genetic disease ISO RGD:1316796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307543 Fbxo33 F-box protein 33 gene DOID:630 genetic disease ISO RGD:1316797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307543 Fbxo33 F-box protein 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307544 Cnksr3 Cnksr family member 3 gene DOID:630 genetic disease ISO RGD:1316799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307545 Anxa13 annexin A13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316801 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1307545 Anxa13 annexin A13 gene DOID:630 genetic disease ISO RGD:1316801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307547 Paxip1 PAX interacting protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1316804 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 1307547 Paxip1 PAX interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1316804 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307547 Paxip1 PAX interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307549 Dctn6 dynactin subunit 6 gene DOID:630 genetic disease ISO RGD:1316808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307550 Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316810 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1307550 Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:1059 intellectual disability ISO RGD:1316810 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307550 Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:630 genetic disease ISO RGD:1316810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1347443 D RGD:155631271|PMID:11358845 20221028 RGD mRNA:increased expression:colorectum (human) 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1347443 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:11554173 20200526 CTD CTD Direct Evidence: marker/mechanism PMID:17503335|PMID:18316031 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:155631273|PMID:19309693 20221028 RGD DNA:mutations:multiple (human) 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:7240710 20200527 OMIM 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 PMID:11857549|PMID:16199547|PMID:17273977|PMID:17503335|PMID:19213032|PMID:19309693|PMID:19839040|PMID:22283518|PMID:22686418|PMID:25044680|PMID:25741868|PMID:26373900|PMID:28492532|PMID:30639323 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:1059 intellectual disability ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:10629 microphthalmia ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:10629 microphthalmia ISO RGD:1347443 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:13641 exfoliation syndrome ISO RGD:1347443 D RGD:155631292|PMID:30986821 20221031 RGD mRNA:decreased expression:iris, retina (human) 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:1682 congenital heart disease ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:2717 Bloom syndrome ISO RGD:1347443 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:5419 schizophrenia ISO RGD:1347443 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:630 genetic disease ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:850 lung disease ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1332061 D RGD:155631301|PMID:30096827 20221031 RGD associated with type 2 diabetes mellitus 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:155631287|PMID:17273977 20221031 RGD DNA:frameshift mutation, missense mutations:CDS:multiple (human) 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002642 Isolated Microphthalmia with Coloboma ISO RGD:1347443 D RGD:155631284|PMID:21901792 20221031 RGD DNA:missense mutation:CDS:p.G204K (human) 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:155631297|PMID:28734946 20221031 RGD protein:decreased expression:optic cup (rat) 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1347443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 1307551 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9256 colorectal cancer ISO RGD:1347443 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:2340 craniosynostosis ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:9269 maple syrup urine disease ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307554 RGD1307554 similar to CG16812-PA gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307556 Fech ferrochelatase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316819 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1307556 Fech ferrochelatase gene DOID:0111988 immunodeficiency 12 ISO RGD:1316819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1307556 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10464147|PMID:12950064|PMID:15284838|PMID:15793285|PMID:17600043|PMID:29906468 1307556 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:11556165|PMID:26789144 20190822 RGD DNA:mutations:introns:IVS-48C,IVS1-23T(human) 1307556 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:14700883|PMID:26280465 20190822 RGD DNA:mutation:introns:IVS3-48C(human) 1307556 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:14700886|PMID:10942404 20190822 RGD DNA:mutations:exons: 1307556 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:14700889|PMID:19787086 20190822 RGD 1307556 Fech ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:1598932|PMID:8601739 20070103 RGD DNA:transitions, frameshift mutations:exon:multiple (human) 1307556 Fech ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:4145285|PMID:1184741 20101028 RGD protein:decreased activity:skin fibroblast, liver (human) 1307556 Fech ferrochelatase gene DOID:234 colon adenocarcinoma ISO RGD:1316819 D RGD:14700888|PMID:28075030 20190822 RGD mRNA:decreased expression:colon 1307556 Fech ferrochelatase gene DOID:4138 bile duct disease ISO RGD:1316819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 1307556 Fech ferrochelatase gene DOID:630 genetic disease ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307556 Fech ferrochelatase gene DOID:9000784 Fibrosis ISO RGD:1316819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 1307556 Fech ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:7240710 20190327 OMIM 1307556 Fech ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:10431482|PMID:10942404|PMID:11753383|PMID:12063482|PMID:12601550|PMID:1376018|PMID:14669009|PMID:15286165|PMID:15574461|PMID:16199547|PMID:16385445|PMID:16844398|PMID:16958804|PMID:17196862|PMID:1729699|PMID:1755842|PMID:17576681|PMID:17711525|PMID:17875872|PMID:18758989|PMID:18787536|PMID:19298273|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:3047929|PMID:31304091|PMID:3940245|PMID:7541650|PMID:7910885|PMID:8151124|PMID:8242081|PMID:8276828|PMID:8481408|PMID:8500787|PMID:8601739|PMID:9536098|PMID:9585598|PMID:9649563 1307556 Fech ferrochelatase gene DOID:9004898 Jaundice ISO RGD:1316819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jaundice PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:31304091 1307556 Fech ferrochelatase gene DOID:9005584 Hepatic Porphyrias IEP D RGD:4144806|PMID:6721832 20101014 RGD protein:increased activity:liver (rat) 1307556 Fech ferrochelatase gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1316819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:31304091 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:7240710 20130425 OMIM 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne PMID:11971877|PMID:14595024|PMID:15580218|PMID:16199547|PMID:16527883|PMID:17576681|PMID:19673875|PMID:19934105|PMID:20506269|PMID:22161697|PMID:22513199|PMID:23571383|PMID:24139496|PMID:25683018|PMID:25741868|PMID:25845478|PMID:26025129|PMID:26386126|PMID:27577878|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:29432774|PMID:30198636|PMID:30290665|PMID:30783801|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:32888943|PMID:33597285|PMID:34399798|PMID:34620178|PMID:9536098 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:13241 Behcet's disease ISO RGD:1316821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:28492532 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:2280 hidradenitis suppurativa ISO RGD:1316821 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1316821 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1316821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:25741868|PMID:27577878|PMID:28492532|PMID:30290665 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1316821 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:6543 acne ISO RGD:1316821 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:8553 pyoderma gangrenosum ISO RGD:1316821 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307557 Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1316821 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307558 Rcc1l RCC1 like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1316823 D RGD:1580600|PMID:12073013 19990101 RGD 1307558 Rcc1l RCC1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316823 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307558 Rcc1l RCC1 like gene DOID:630 genetic disease ISO RGD:1316823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307558 Rcc1l RCC1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1316823 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1307559 Ranbp3l RAN binding protein 3-like gene DOID:630 genetic disease ISO RGD:1602423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307559 Ranbp3l RAN binding protein 3-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602423 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307560 Med15 mediator complex subunit 15 gene DOID:0060041 autism spectrum disorder ISO RGD:1316826 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1307560 Med15 mediator complex subunit 15 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1307560 Med15 mediator complex subunit 15 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1307560 Med15 mediator complex subunit 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1316826 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1307560 Med15 mediator complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1316826 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307560 Med15 mediator complex subunit 15 gene DOID:11198 DiGeorge syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1307560 Med15 mediator complex subunit 15 gene DOID:11372 megacolon ISO RGD:1316826 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307560 Med15 mediator complex subunit 15 gene DOID:12583 velocardiofacial syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1307560 Med15 mediator complex subunit 15 gene DOID:12849 autistic disorder ISO RGD:1316826 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307560 Med15 mediator complex subunit 15 gene DOID:1826 epilepsy ISO RGD:1316826 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1307560 Med15 mediator complex subunit 15 gene DOID:2213 hemorrhagic disease ISO RGD:1316826 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1307560 Med15 mediator complex subunit 15 gene DOID:5419 schizophrenia ISO RGD:1316826 D RGD:1358555|PMID:12497610 19990101 RGD 1307560 Med15 mediator complex subunit 15 gene DOID:5419 schizophrenia ISO RGD:1316826 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307560 Med15 mediator complex subunit 15 gene DOID:612 primary immunodeficiency disease ISO RGD:1316826 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1307560 Med15 mediator complex subunit 15 gene DOID:630 genetic disease ISO RGD:1316826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307560 Med15 mediator complex subunit 15 gene DOID:9003871 Venous Thrombosis ISO RGD:1316826 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1307560 Med15 mediator complex subunit 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316826 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307560 Med15 mediator complex subunit 15 gene DOID:9007661 Dwarfism ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1307561 Tmem50b transmembrane protein 50B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307561 Tmem50b transmembrane protein 50B gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1307561 Tmem50b transmembrane protein 50B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307561 Tmem50b transmembrane protein 50B gene DOID:0111995 immunodeficiency 28 ISO RGD:1316828 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17576681|PMID:28492532|PMID:29106381|PMID:9536098 1307561 Tmem50b transmembrane protein 50B gene DOID:630 genetic disease ISO RGD:1316828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307561 Tmem50b transmembrane protein 50B gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316828 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:28492532 1307561 Tmem50b transmembrane protein 50B gene DOID:9005698 ZTTK Syndrome ISO RGD:1316828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1307562 Hddc2 HD domain containing 2 gene DOID:630 genetic disease ISO RGD:1316830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307564 Bloc1s1 biogenesis of lysosomal organelles complex-1, subunit 1 gene DOID:630 genetic disease ISO RGD:1316833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307566 Rasal2 RAS protein activator like 2 gene DOID:10283 prostate cancer ISO RGD:1316836 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307566 Rasal2 RAS protein activator like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316836 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307566 Rasal2 RAS protein activator like 2 gene DOID:630 genetic disease ISO RGD:1316836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307566 Rasal2 RAS protein activator like 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316836 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 1307566 Rasal2 RAS protein activator like 2 gene DOID:9000918 Disease Progression ISO RGD:1316836 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 1307566 Rasal2 RAS protein activator like 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1316836 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 1307566 Rasal2 RAS protein activator like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316836 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 1307566 Rasal2 RAS protein activator like 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316836 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1307566 Rasal2 RAS protein activator like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316836 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1316839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457648 1307568 Rac2 Rac family small GTPase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:0060058 lymphoma ISO RGD:1316839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 1307568 Rac2 Rac family small GTPase 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 1307568 Rac2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia PMID:25741868|PMID:28492532|PMID:30654050|PMID:30723080|PMID:31071452 1307568 Rac2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 1307568 Rac2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia PMID:25512081|PMID:25741868|PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:7240710 20130221 OMIM 1307568 Rac2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome PMID:10758162|PMID:10961859|PMID:11278678|PMID:14676277|PMID:17576681|PMID:21167572|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30723080|PMID:33188496|PMID:9536098 1307568 Rac2 Rac family small GTPase 2 gene DOID:10283 prostate cancer ISO RGD:1316839 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307568 Rac2 Rac family small GTPase 2 gene DOID:114 heart disease ISO RGD:1316839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 1307568 Rac2 Rac family small GTPase 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:1909 melanoma ISO RGD:1316839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 1307568 Rac2 Rac family small GTPase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1316839 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:30723080 1307568 Rac2 Rac family small GTPase 2 gene DOID:630 genetic disease ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307568 Rac2 Rac family small GTPase 2 gene DOID:9000918 Disease Progression ISO RGD:1316839 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 1307568 Rac2 Rac family small GTPase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1316839 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:increased expression:gingival tissues (human) 1307568 Rac2 Rac family small GTPase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307568 Rac2 Rac family small GTPase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316839 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 1307569 Eva1c eva-1 homolog C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307569 Eva1c eva-1 homolog C gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316841 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1307569 Eva1c eva-1 homolog C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307569 Eva1c eva-1 homolog C gene DOID:630 genetic disease ISO RGD:1316841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307569 Eva1c eva-1 homolog C gene DOID:9005698 ZTTK Syndrome ISO RGD:1316841 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1307571 Ly6a lymphocyte antigen 6 complex, locus A gene DOID:11476 osteoporosis ISS RGD:1316843 D RGD:13592920 20230413 MouseDO OMIM:166710 1307572 Bphl biphenyl hydrolase like gene DOID:630 genetic disease ISO RGD:1316844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307573 Tmem119 transmembrane protein 119 gene DOID:630 genetic disease ISO RGD:1602276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307576 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316849 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1307576 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:1059 intellectual disability ISO RGD:1316849 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307576 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:630 genetic disease ISO RGD:1316849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307577 Cfap70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:7240710 20191211 OMIM 1307577 Cfap70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 41 PMID:31621862 1307577 Cfap70 cilia and flagella associated protein 70 gene DOID:630 genetic disease ISO RGD:1316851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307578 Mapkbp1 mitogen activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:7240710 20190315 OMIM 1307578 Mapkbp1 mitogen activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 20 PMID:25741868|PMID:28089251|PMID:28492532|PMID:32055034 1307578 Mapkbp1 mitogen activated protein kinase binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1604640 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307578 Mapkbp1 mitogen activated protein kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:1604640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307578 Mapkbp1 mitogen activated protein kinase binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1604640 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307579 Numbl NUMB-like, endocytic adaptor protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307579 Numbl NUMB-like, endocytic adaptor protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307579 Numbl NUMB-like, endocytic adaptor protein gene DOID:2340 craniosynostosis ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307579 Numbl NUMB-like, endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1316854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307579 Numbl NUMB-like, endocytic adaptor protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307579 Numbl NUMB-like, endocytic adaptor protein gene DOID:9269 maple syrup urine disease ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307580 Fbxo4 F-box protein 4 gene DOID:630 genetic disease ISO RGD:1316856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307580 Fbxo4 F-box protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316856 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0050439 Usher syndrome ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:7240710 20170726 OMIM 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31534736|PMID:31836858|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:1059 intellectual disability ISO RGD:1316858 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858 D RGD:1579969|PMID:12524598 19990101 RGD DNA:mutations: :multiple (human) 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16786513|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31196119|PMID:31534736|PMID:31836858|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32552793|PMID:33169370|PMID:33532864|PMID:33594065|PMID:34526762|PMID:35886001|PMID:8316268|PMID:9536098 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:2018 hyperinsulinism ISO RGD:1316859 D RGD:243065268|PMID:33722691 20230417 RGD 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:630 genetic disease ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:8501 fundus dystrophy ISO RGD:1316858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15770229|PMID:16199547|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25780760|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:9536098 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:243065268|PMID:33722691 20230417 RGD 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISS RGD:1316859 D RGD:13592920 20180518 MouseDO OMIM:601665 1307581 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity no_association ISO RGD:1316858 D RGD:1601314|PMID:14993910 20070416 RGD DNA:mutation: :p.M390R (human) 1307582 Rpusd3 RNA pseudouridine synthase D3 gene DOID:2843 long QT syndrome ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1307582 Rpusd3 RNA pseudouridine synthase D3 gene DOID:630 genetic disease ISO RGD:1351633 D RGD:8554872 20160510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 1307582 Rpusd3 RNA pseudouridine synthase D3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351633 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307582 Rpusd3 RNA pseudouridine synthase D3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1351633 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1307583 Uqcc5 ubiquinol-cytochrome c reductase complex assembly factor 5 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1603140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1307584 Hoxc5 homeo box C5 gene DOID:630 genetic disease ISO RGD:1344989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307584 Hoxc5 homeo box C5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344989 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307585 Efhd2 EF-hand domain family, member D2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307585 Efhd2 EF-hand domain family, member D2 gene DOID:630 genetic disease ISO RGD:1316863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307585 Efhd2 EF-hand domain family, member D2 gene DOID:9006302 Binge Drinking ISO RGD:1316863 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:28397836 1307586 Rpl7a ribosomal protein L7A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307586 Rpl7a ribosomal protein L7A gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316865 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1307586 Rpl7a ribosomal protein L7A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1307586 Rpl7a ribosomal protein L7A gene DOID:0081097 Rafiq syndrome ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1307586 Rpl7a ribosomal protein L7A gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316865 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1307586 Rpl7a ribosomal protein L7A gene DOID:3652 Leigh disease ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1307587 Zfp41 zinc finger protein 41 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307587 Zfp41 zinc finger protein 41 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1307587 Zfp41 zinc finger protein 41 gene DOID:4621 holoprosencephaly ISO RGD:1606662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307587 Zfp41 zinc finger protein 41 gene DOID:630 genetic disease ISO RGD:1606662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1316868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:7240710 20190320 OMIM 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16199547|PMID:16826528|PMID:17576681|PMID:18414213|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22318994|PMID:22670141|PMID:22890305|PMID:23232695|PMID:24088041|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26633542|PMID:26633545|PMID:26833960|PMID:27651234|PMID:27891178|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29276005|PMID:29416845|PMID:29758562|PMID:30370152|PMID:30525188|PMID:30982612|PMID:31209758|PMID:31785789|PMID:32335911|PMID:32860008|PMID:33767182|PMID:9536098 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316868 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome PMID:25741868 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316868 D RGD:9589137|PMID:21538692 20141110 RGD 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316868 D RGD:9589144|PMID:21910222 20141110 RGD 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316869 D RGD:9589139|PMID:19896504 20141110 RGD 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1316868 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1316868 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1316868 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316868 D RGD:9590071|PMID:24805087 20141112 RGD protein:increased expression:esophagus mucosa: 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1316868 D RGD:9589143|PMID:24649311 20141110 RGD protein:increased expression:esophagus: 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1316868 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1316868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15805155|PMID:16826528|PMID:17576681|PMID:18264113|PMID:18414213|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:9536098 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316868 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316868 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23232695|PMID:25741868|PMID:30370152 1307588 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316868 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 1307589 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19182804 1307589 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:7240710 20130221 OMIM 1307589 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:17576681|PMID:19182804|PMID:19345147|PMID:19345148|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687191|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21538522|PMID:21752024|PMID:21782490|PMID:21793105|PMID:21839475|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24757586|PMID:24936516|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26087139|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:27123488|PMID:27913194|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:33175450|PMID:33369735|PMID:9536098 1307589 Thap1 THAP domain containing 1 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1316870 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 1307589 Thap1 THAP domain containing 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1316870 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1307589 Thap1 THAP domain containing 1 gene DOID:543 dystonia ISO RGD:1316870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222958 1307589 Thap1 THAP domain containing 1 gene DOID:543 dystonia ISO RGD:1316870 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1307589 Thap1 THAP domain containing 1 gene DOID:630 genetic disease ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20211909|PMID:24757586|PMID:25741868|PMID:26467025|PMID:28492532 1307589 Thap1 THAP domain containing 1 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1316870 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 1307589 Thap1 THAP domain containing 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1316870 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1307590 Flii FLII, actin remodeling protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1316872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome PMID:20188345|PMID:28492532 1307590 Flii FLII, actin remodeling protein gene DOID:0050777 Joubert syndrome ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1307590 Flii FLII, actin remodeling protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1316872 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1307590 Flii FLII, actin remodeling protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1307590 Flii FLII, actin remodeling protein gene DOID:12849 autistic disorder ISO RGD:1316872 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307590 Flii FLII, actin remodeling protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1316872 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10862770|PMID:20661277|PMID:25741868|PMID:32870709 1307590 Flii FLII, actin remodeling protein gene DOID:630 genetic disease ISO RGD:1316872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307590 Flii FLII, actin remodeling protein gene DOID:9002189 High Myopia ISO RGD:1316872 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1307590 Flii FLII, actin remodeling protein gene DOID:9006836 Contracture ISO RGD:1316872 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1307593 Mrpl43 mitochondrial ribosomal protein L43 gene DOID:630 genetic disease ISO RGD:1316878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307594 Slc46a3 solute carrier family 46, member 3 gene DOID:10283 prostate cancer ISO RGD:1606669 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307594 Slc46a3 solute carrier family 46, member 3 gene DOID:630 genetic disease ISO RGD:1606669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307596 Fbxo8 F-box protein 8 gene DOID:630 genetic disease ISO RGD:1316882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307596 Fbxo8 F-box protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316882 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307597 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1316884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:12702580|PMID:17656264|PMID:22290698|PMID:25927356|PMID:28492532|PMID:32984025 1307597 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316884 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307597 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316884 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:28492532 1307597 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307597 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12702580|PMID:17656264|PMID:22290698|PMID:25927356|PMID:28492532|PMID:32984025 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:1380 endometrial cancer ISS RGD:1332254 D RGD:13592920 20180518 MouseDO OMIM:608089 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:289 endometriosis ISO RGD:1604617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:630 genetic disease ISO RGD:1604617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:8398 osteoarthritis ISS RGD:1332254 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:9685546|PMID:10749885 20150119 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney: 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly ISO RGD:1332254 D RGD:9685562|PMID:19204184 20150120 RGD protein:increased expression:heart: 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly treatment IDA D RGD:9685562|PMID:19204184 20150120 RGD 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604617 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307599 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604617 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28688920 1307600 Cdnf cerebral dopamine neurotrophic factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316888 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1307600 Cdnf cerebral dopamine neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316889 D RGD:8554872 20210928 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1316889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316889 D RGD:8554872 20210928 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1316889 D RGD:150429712|PMID:29043607 20210921 RGD 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1316889 D RGD:150429712|PMID:29043607 20210921 RGD 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1316889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307601 Ifitm1 interferon induced transmembrane protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316889 D RGD:11554173 20210928 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307603 Gstp3 glutathione S-transferase pi 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316892 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307605 Grap2 GRB2-related adaptor protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307605 Grap2 GRB2-related adaptor protein 2 gene DOID:1883 hepatitis C severity ISO RGD:1316895 D RGD:126790487|PMID:15063762 20210423 RGD DNA:SNP:intron: (human) 1307605 Grap2 GRB2-related adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1316895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307605 Grap2 GRB2-related adaptor protein 2 gene DOID:9007278 Anaphylaxis ameliorates ISO RGD:1552736 D RGD:126790488|PMID:18664516 20210423 RGD 1307606 Cd302 CD302 molecule gene DOID:12849 autistic disorder ISO RGD:1350388 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1307606 Cd302 CD302 molecule gene DOID:630 genetic disease ISO RGD:1350388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307607 Hexb hexosaminidase subunit beta gene DOID:0080600 COVID-19 ISO RGD:1316898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307607 Hexb hexosaminidase subunit beta gene DOID:1059 intellectual disability ISO RGD:1316898 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307607 Hexb hexosaminidase subunit beta gene DOID:12377 spinal muscular atrophy ISO RGD:1316898 D RGD:1599424|PMID:1720305 20070201 RGD 1307607 Hexb hexosaminidase subunit beta gene DOID:3021 acute kidney failure ISO RGD:1316898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22005293 1307607 Hexb hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:1599422|PMID:2147027 20070201 RGD 1307607 Hexb hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:7240710 20130221 OMIM 1307607 Hexb hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease PMID:10724|PMID:10982028|PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:1390948|PMID:14724290|PMID:1487253|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:19595619|PMID:1975561|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2139865|PMID:2147027|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22191674|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24033266|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:26582265|PMID:27021291|PMID:27142713|PMID:27435318|PMID:27629047|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:2948136|PMID:2973515|PMID:30065954|PMID:30075786|PMID:3014997|PMID:30548430|PMID:31319225|PMID:31367523|PMID:3156493|PMID:31589614|PMID:31852446|PMID:31974414|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34856081|PMID:571983|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8045559|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:868875|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901 1307607 Hexb hexosaminidase subunit beta gene DOID:630 genetic disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10724|PMID:17015493|PMID:19595619|PMID:20798201|PMID:2147031|PMID:2170400|PMID:22789865|PMID:24461908|PMID:24915922|PMID:2522450|PMID:25741868|PMID:27021291|PMID:28492532 1307607 Hexb hexosaminidase subunit beta gene DOID:9002051 Sandhoff Disease, Juvenile Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, juvenile type PMID:10724|PMID:1386607|PMID:1531140|PMID:17015493|PMID:1720305|PMID:17237499|PMID:20798201|PMID:21150067|PMID:2147027|PMID:2147031|PMID:2170400|PMID:22789865|PMID:23127958|PMID:24263030|PMID:24915922|PMID:2522450|PMID:25736553|PMID:25741868|PMID:27021291|PMID:27142713|PMID:28492532|PMID:29448188|PMID:3014997|PMID:7557963|PMID:8106452 1307607 Hexb hexosaminidase subunit beta gene DOID:9003926 Sandhoff Disease, Infantile Type ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sandhoff disease, infantile type PMID:10982028|PMID:18758829|PMID:19823769|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:7633435|PMID:8045559|PMID:8162015|PMID:9888387 1307607 Hexb hexosaminidase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316898 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307607 Hexb hexosaminidase subunit beta gene DOID:9008015 Sandhoff Disease, Adult Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, adult type PMID:12027830|PMID:12166653|PMID:1386607|PMID:1531140|PMID:17237499|PMID:17251047|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2147027|PMID:22789865|PMID:23010210|PMID:23127958|PMID:23759947|PMID:24263030|PMID:25736553|PMID:25741868|PMID:28492532|PMID:29448188|PMID:2948136|PMID:571983|PMID:7557963|PMID:8357844|PMID:8950198|PMID:9562328 1307608 Ube2f ubiquitin-conjugating enzyme E2F (putative) gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1307608 Ube2f ubiquitin-conjugating enzyme E2F (putative) gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1307608 Ube2f ubiquitin-conjugating enzyme E2F (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1350782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1307608 Ube2f ubiquitin-conjugating enzyme E2F (putative) gene DOID:1059 intellectual disability ISO RGD:1350782 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307608 Ube2f ubiquitin-conjugating enzyme E2F (putative) gene DOID:630 genetic disease ISO RGD:1350782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307608 Ube2f ubiquitin-conjugating enzyme E2F (putative) gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1307609 Trim13 tripartite motif-containing 13 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316901 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1307609 Trim13 tripartite motif-containing 13 gene DOID:1059 intellectual disability ISO RGD:1316901 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307609 Trim13 tripartite motif-containing 13 gene DOID:630 genetic disease ISO RGD:1316901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307610 Raver2 ribonucleoprotein, PTB-binding 2 gene DOID:1059 intellectual disability ISO RGD:1602482 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1307610 Raver2 ribonucleoprotein, PTB-binding 2 gene DOID:630 genetic disease ISO RGD:1602482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:0050457 Sertoli cell-only syndrome ISS RGD:1316905 D RGD:13592920 20180518 MouseDO OMIM:305700 | OMIM:400042 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:14227 azoospermia ISO RGD:1316904 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1316904 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1307611 Dmc1 DNA meiotic recombinase 1 gene DOID:630 genetic disease ISO RGD:1316904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1316906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect PMID:25741868 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1316906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:7240710 20170802 OMIM 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1316906 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:7240710 20170802 OMIM 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:16199547|PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:27290639|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:7240710 20170802 OMIM 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:25741868|PMID:26220973|PMID:28492532 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1316906 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:10907 microcephaly ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1316906 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:26220973 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:630 genetic disease ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:9536098 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316906 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:905 Zellweger syndrome ISO RGD:1316907 D RGD:13207457|PMID:9288097 20200419 RGD 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:905 Zellweger syndrome ISO RGD:1316907 D RGD:25440483|PMID:11583975 20200419 RGD 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:905 Zellweger syndrome ISO RGD:1316907 D RGD:25440485|PMID:28866057 20200419 RGD 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:906 peroxisomal disease ISO RGD:1316907 D RGD:13207458|PMID:15732085 20170809 RGD 1307612 Pex5 peroxisomal biogenesis factor 5 gene DOID:9452 fatty liver disease ISO RGD:1316907 D RGD:25440484|PMID:21756965 20200419 RGD 1307613 Stard7 StAR-related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:7240710 20191127 OMIM 1307613 Stard7 StAR-related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 1307613 Stard7 StAR-related lipid transfer domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1316908 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307613 Stard7 StAR-related lipid transfer domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1316908 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307613 Stard7 StAR-related lipid transfer domain containing 7 gene DOID:630 genetic disease ISO RGD:1316908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307614 Ube2m ubiquitin-conjugating enzyme E2M gene DOID:630 genetic disease ISO RGD:1316910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0050777 Joubert syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:1059 intellectual disability ISO RGD:1316912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:3652 Leigh disease ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:630 genetic disease ISO RGD:1316912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307615 Rabl6 RAB, member RAS oncogene family-like 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1316914 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:7240710 20160713 OMIM 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:21576112|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:28492532|PMID:29302074|PMID:30304524|PMID:30340945|PMID:31130284|PMID:34352414|PMID:34536092|PMID:9536098 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14606043|PMID:16429158|PMID:19561293|PMID:26138142|PMID:26257172|PMID:26975778|PMID:28492532 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316914 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16429158|PMID:21384131|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30340945|PMID:31130284|PMID:34536092 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:7240710 20210728 OMIM 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29232904|PMID:29302074|PMID:30304524|PMID:31130284|PMID:33490854|PMID:34352414|PMID:34536092 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316914 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:29232904 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1316914 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 1307616 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316914 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27633801|PMID:33490854 1307617 Adsl adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10888601|PMID:10958654|PMID:12833398 1307617 Adsl adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:7240710 20130221 OMIM 1307617 Adsl adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12070256|PMID:12368987|PMID:12833398|PMID:1302001|PMID:1405483|PMID:15571235|PMID:15571240|PMID:16199547|PMID:16403972|PMID:16839792|PMID:17188615|PMID:17576681|PMID:18524658|PMID:18830228|PMID:19405474|PMID:20049533|PMID:20127976|PMID:20175147|PMID:20177786|PMID:20884265|PMID:20933180|PMID:21210713|PMID:22180458|PMID:22812634|PMID:23055421|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29302074|PMID:29314763|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:3234432|PMID:32681428|PMID:33648541|PMID:6150139|PMID:7334371|PMID:8598641|PMID:9165520|PMID:9197470|PMID:9266401|PMID:9536098|PMID:9545543 1307617 Adsl adenylosuccinate lyase gene DOID:0060041 autism spectrum disorder ISO RGD:1316916 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1307617 Adsl adenylosuccinate lyase gene DOID:10283 prostate cancer severity ISO RGD:1316916 D RGD:1598760|PMID:3690833 20061218 RGD protein:increased activity:tumor (human) 1307617 Adsl adenylosuccinate lyase gene DOID:1059 intellectual disability ISO RGD:1316916 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1307617 Adsl adenylosuccinate lyase gene DOID:12849 autistic disorder ISO RGD:1316916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15471876 1307617 Adsl adenylosuccinate lyase gene DOID:1612 breast cancer IEP D RGD:1598766|PMID:2937404 20110720 RGD protein:increased activity:tumor (rat) 1307617 Adsl adenylosuccinate lyase gene DOID:1612 breast cancer severity ISO RGD:1316916 D RGD:1598760|PMID:3690833 20061218 RGD protein:increased activity:tumor (human) 1307617 Adsl adenylosuccinate lyase gene DOID:630 genetic disease ISO RGD:1316916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12833398|PMID:16839792|PMID:17188615|PMID:18524658|PMID:20127976|PMID:20175147|PMID:20933180|PMID:22180458|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25741868|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:33648541|PMID:7334371|PMID:9266401 1307617 Adsl adenylosuccinate lyase gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:1598766|PMID:2937404 20061219 RGD protein:increased activity:liver (rat) 1307617 Adsl adenylosuccinate lyase gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1316916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:10090474|PMID:10888601|PMID:10958654|PMID:17188615|PMID:18524658|PMID:20127976|PMID:22180458|PMID:25741868|PMID:28492532|PMID:31467849 1307617 Adsl adenylosuccinate lyase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1598762|PMID:3360219 20061218 RGD protein:increased activity:heart (rat) 1307618 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1601858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1307618 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307618 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307618 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:7240710 20200826 OMIM 1307618 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age PMID:25741868|PMID:27599773|PMID:28492532|PMID:31325655|PMID:31705726 1307619 Sp8 Sp8 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316919 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307619 Sp8 Sp8 transcription factor gene DOID:630 genetic disease ISO RGD:1316919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1316921 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:21681106|PMID:25741868|PMID:26011646 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:12336 male infertility ISO RGD:1316921 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:2717 Bloom syndrome ISO RGD:1316921 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:5223 infertility ISO RGD:1316921 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Infertility 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:630 genetic disease ISO RGD:1316921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1316921 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:19344877|PMID:24033266|PMID:25741868 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:9004538 Hearing Loss ISO RGD:1316921 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hearing impairment 1307620 Catsper2 cation channel, sperm associated 2 gene DOID:9256 colorectal cancer ISO RGD:1316921 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307621 RGD1307621 hypothetical LOC314168 gene DOID:13636 Fanconi anemia ISO RGD:1316923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 1307621 RGD1307621 hypothetical LOC314168 gene DOID:630 genetic disease ISO RGD:1316923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307621 RGD1307621 hypothetical LOC314168 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307622 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1307622 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1307622 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:630 genetic disease ISO RGD:1316924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307622 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316924 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307623 Rhoh ras homolog family member H gene DOID:0060019 coronin-1A deficiency ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis PMID:25741868|PMID:28492532 1307623 Rhoh ras homolog family member H gene DOID:630 genetic disease ISO RGD:1316925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307623 Rhoh ras homolog family member H gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1307623 Rhoh ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 PMID:22850876|PMID:25741868|PMID:28492532 1307623 Rhoh ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 susceptibility ISO RGD:1316925 D RGD:7240710 20190502 OMIM 1307624 Borcs5 BLOC-1 related complex subunit 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1316927 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs3803098) A>G (human) 1307624 Borcs5 BLOC-1 related complex subunit 5 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1307624 Borcs5 BLOC-1 related complex subunit 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1307624 Borcs5 BLOC-1 related complex subunit 5 gene DOID:630 genetic disease ISO RGD:1316927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307624 Borcs5 BLOC-1 related complex subunit 5 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316927 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of 1307626 Drosha drosha ribonuclease III gene DOID:10485 esophageal atresia ISO RGD:1605687 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1307626 Drosha drosha ribonuclease III gene DOID:12336 male infertility ISO RGD:1605687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 1307626 Drosha drosha ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1605687 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1307626 Drosha drosha ribonuclease III gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605687 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307626 Drosha drosha ribonuclease III gene DOID:630 genetic disease ISO RGD:1605687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307626 Drosha drosha ribonuclease III gene DOID:687 hepatoblastoma ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 1307626 Drosha drosha ribonuclease III gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605687 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307627 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1307627 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1307627 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344143 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1307627 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:630 genetic disease ISO RGD:1344143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307627 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344143 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 1307627 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344143 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307629 Kdm6b lysine demethylase 6B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307629 Kdm6b lysine demethylase 6B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1307629 Kdm6b lysine demethylase 6B gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1316934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 1307629 Kdm6b lysine demethylase 6B gene DOID:1059 intellectual disability ISO RGD:1316934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1307629 Kdm6b lysine demethylase 6B gene DOID:1059 intellectual disability ISO RGD:1316934 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1307629 Kdm6b lysine demethylase 6B gene DOID:12177 common variable immunodeficiency ISO RGD:1316934 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307629 Kdm6b lysine demethylase 6B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1307629 Kdm6b lysine demethylase 6B gene DOID:1826 epilepsy ISO RGD:1316934 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307629 Kdm6b lysine demethylase 6B gene DOID:2729 dyskeratosis congenita ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1307629 Kdm6b lysine demethylase 6B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1307629 Kdm6b lysine demethylase 6B gene DOID:3459 breast carcinoma ISO RGD:1316934 D RGD:9587818|PMID:23152497 20141021 RGD mRNA:increased expression:breast (human) 1307629 Kdm6b lysine demethylase 6B gene DOID:4450 renal cell carcinoma ISO RGD:1316934 D RGD:9587837|PMID:23057811 20141021 RGD mRNA, protein:increased expression:kidney (human) 1307629 Kdm6b lysine demethylase 6B gene DOID:630 genetic disease ISO RGD:1316934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307629 Kdm6b lysine demethylase 6B gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9587821|PMID:22578249 20141021 RGD mRNA:increased expression:spinal cord (rat) 1307629 Kdm6b lysine demethylase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316934 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1307629 Kdm6b lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:7240710 20190821 OMIM 1307629 Kdm6b lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities PMID:25741868|PMID:28492532|PMID:31124279 1307629 Kdm6b lysine demethylase 6B gene DOID:9008582 Developmental Disease ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1307629 Kdm6b lysine demethylase 6B gene DOID:962 neurofibroma ISO RGD:1316935 D RGD:9587842|PMID:23748155 20141021 RGD mRNA, protein:increased expression:sciatic nerve (mouse) 1307630 Celf4 CUGBP, Elav-like family member 4 gene DOID:1059 intellectual disability ISO RGD:1316936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307630 Celf4 CUGBP, Elav-like family member 4 gene DOID:2661 myoepithelioma ISO RGD:1316936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1307630 Celf4 CUGBP, Elav-like family member 4 gene DOID:630 genetic disease ISO RGD:1316936 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973222 1307631 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1307631 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1307631 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0111254 glutaric acidemia I ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1307631 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:3413 alpha-mannosidosis ISO RGD:1604521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1307631 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1604521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307632 Isoc1 isochorismatase domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307632 Isoc1 isochorismatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1347473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307632 Isoc1 isochorismatase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347473 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307632 Isoc1 isochorismatase domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307633 Mphosph10 M-phase phosphoprotein 10 gene DOID:543 dystonia ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307633 Mphosph10 M-phase phosphoprotein 10 gene DOID:630 genetic disease ISO RGD:1316939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307633 Mphosph10 M-phase phosphoprotein 10 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1316940 D RGD:9587477|PMID:22882088 20141015 RGD protein:increased expression:mouth mucosa: 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer ISO RGD:1316940 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer disease_progression ISO RGD:1316940 D RGD:9587461|PMID:19309489 20141015 RGD protein:increased expression:prostate: 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:3068 glioblastoma ISO RGD:1316940 D RGD:9587472|PMID:24039914 20141015 RGD protein:increased expression:brain: 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:3070 high grade glioma disease_progression ISO RGD:1316940 D RGD:9587472|PMID:24039914 20141015 RGD protein:increased expression:brain: 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:403 mouth disease ISO RGD:1316940 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:630 genetic disease ISO RGD:1316940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:1316940 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1316940 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:8923 skin melanoma severity ISO RGD:1316940 D RGD:9587476|PMID:20178651 20141015 RGD protein:increased expression:skin: 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:9003216 Salivary Gland Neoplasms disease_progression ISO RGD:1316940 D RGD:9587467|PMID:21109952 20141015 RGD protein:increased expression:salivary gland: 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1316940 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1307634 Chaf1b chromatin assembly factor 1 subunit B gene DOID:9008192 Neoplastic Processes ISO RGD:1316940 D RGD:9587477|PMID:22882088 20141015 RGD protein:increased expression:: 1307635 Kank4 KN motif and ankyrin repeat domains 4 gene DOID:1059 intellectual disability ISO RGD:1603552 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1307635 Kank4 KN motif and ankyrin repeat domains 4 gene DOID:1184 nephrotic syndrome ISO RGD:1603552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25961457|PMID:28492532|PMID:29127259 1307635 Kank4 KN motif and ankyrin repeat domains 4 gene DOID:630 genetic disease ISO RGD:1603552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307636 Cnpy4 canopy FGF signaling regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606674 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307636 Cnpy4 canopy FGF signaling regulator 4 gene DOID:630 genetic disease ISO RGD:1606674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307636 Cnpy4 canopy FGF signaling regulator 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307638 Zfp131 zinc finger protein 131 gene DOID:630 genetic disease ISO RGD:1353025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307638 Zfp131 zinc finger protein 131 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353025 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307639 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1316946 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 1307639 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:630 genetic disease ISO RGD:1316946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307639 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 1307639 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 1307640 Arsj arylsulfatase family, member J gene DOID:12271 aniridia ISO RGD:1606235 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1307640 Arsj arylsulfatase family, member J gene DOID:630 genetic disease ISO RGD:1606235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307643 Cplx4 complexin 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316951 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1307643 Cplx4 complexin 4 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1307643 Cplx4 complexin 4 gene DOID:630 genetic disease ISO RGD:1316951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307644 Wnt8b Wnt family member 8B gene DOID:10487 Hirschsprung's disease ISO RGD:1316953 D RGD:12801434|PMID:20972907 20170330 RGD 1307644 Wnt8b Wnt family member 8B gene DOID:630 genetic disease ISO RGD:1316953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307645 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307645 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 1307645 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:5419 schizophrenia ISO RGD:1316955 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307645 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1316955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307645 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316955 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307645 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307646 Lpin1 lipin 1 gene DOID:11981 morbid obesity ISO RGD:1316957 D RGD:1641822|PMID:17563064 20070823 RGD 1307646 Lpin1 lipin 1 gene DOID:5419 schizophrenia ISO RGD:1316957 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307646 Lpin1 lipin 1 gene DOID:630 genetic disease ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307646 Lpin1 lipin 1 gene DOID:783 end stage renal disease IEP D RGD:1641826|PMID:14718385 20070823 RGD mRNA:increased expression:skeletal muscle 1307646 Lpin1 lipin 1 gene DOID:811 lipodystrophy ISS RGD:1316958 D RGD:13592920 20180518 MouseDO OMIM:608709 1307646 Lpin1 lipin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1641826|PMID:14718385 20070823 RGD mRNA:increased expression:skeletal muscle 1307646 Lpin1 lipin 1 gene DOID:9007346 Cachexia IEP D RGD:1641826|PMID:14718385 20070823 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle 1307646 Lpin1 lipin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1316957 D RGD:1641822|PMID:17563064 20070823 RGD 1307646 Lpin1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:7240710 20130221 OMIM 1307646 Lpin1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive PMID:16199547|PMID:17576681|PMID:18591397|PMID:18817903|PMID:20583302|PMID:22481384|PMID:24033266|PMID:25741868|PMID:26111941|PMID:28492532|PMID:32041611|PMID:9536098 1307647 Sytl2 synaptotagmin-like 2 gene DOID:0080600 COVID-19 ISO RGD:1316959 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307647 Sytl2 synaptotagmin-like 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1316959 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1307647 Sytl2 synaptotagmin-like 2 gene DOID:1059 intellectual disability ISO RGD:1316959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307647 Sytl2 synaptotagmin-like 2 gene DOID:1558 angioedema ISO RGD:1316959 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Angioedema PMID:28327206 1307647 Sytl2 synaptotagmin-like 2 gene DOID:630 genetic disease ISO RGD:1316959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307648 Dpcd deleted in primary ciliary dyskinesia gene DOID:0090020 split hand-foot malformation ISO RGD:1601768 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 1307648 Dpcd deleted in primary ciliary dyskinesia gene DOID:10908 hydrocephalus ISS RGD:1316961 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1307648 Dpcd deleted in primary ciliary dyskinesia gene DOID:630 genetic disease ISO RGD:1601768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307648 Dpcd deleted in primary ciliary dyskinesia gene DOID:9562 primary ciliary dyskinesia ISS RGD:1316961 D RGD:13592920 20180518 MouseDO 1307649 Wdr6 WD repeat domain 6 gene DOID:630 genetic disease ISO RGD:1316962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307649 Wdr6 WD repeat domain 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1316962 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1307649 Wdr6 WD repeat domain 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1316962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1307649 Wdr6 WD repeat domain 6 gene DOID:9007661 Dwarfism ISO RGD:1316962 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1307650 Mrps17 mitochondrial ribosomal protein S17 gene DOID:12849 autistic disorder ISO RGD:1316964 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307650 Mrps17 mitochondrial ribosomal protein S17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316964 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307650 Mrps17 mitochondrial ribosomal protein S17 gene DOID:630 genetic disease ISO RGD:1316964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307651 Cblc Cbl proto-oncogene C gene DOID:630 genetic disease ISO RGD:1316966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307653 Ap1m1 adaptor related protein complex 1 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1316969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307654 Rit2 Ras-like without CAAX 2 gene DOID:1059 intellectual disability ISO RGD:1316971 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307654 Rit2 Ras-like without CAAX 2 gene DOID:630 genetic disease ISO RGD:1316971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307654 Rit2 Ras-like without CAAX 2 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 1307655 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1307655 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:2843 long QT syndrome ISO RGD:1316973 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1307655 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:630 genetic disease ISO RGD:1316973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307655 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:9002801 Recurrence ISO RGD:1316973 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1307655 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316973 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 1307657 Arl6ip4 ADP-ribosylation factor like GTPase 6 interacting protein 4 gene DOID:630 genetic disease ISO RGD:1316976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307658 Rbm12b RNA binding motif protein 12B gene DOID:2661 myoepithelioma ISO RGD:1602033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1307658 Rbm12b RNA binding motif protein 12B gene DOID:630 genetic disease ISO RGD:1602033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:25741868|PMID:26315354|PMID:26467025|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30333958|PMID:32885271 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1316979 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:11251781|PMID:26968956 20160622 RGD DNA:nonsense mutation:cds:p.R798* (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:7240710 20130425 OMIM 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34585738|PMID:34607609|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35467778|PMID:35734982|PMID:35986085 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:36988593|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:10534 stomach cancer ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19339519|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:22792074|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25646469|PMID:25741868|PMID:25877891|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:29368626|PMID:29752822|PMID:29922827|PMID:30792206|PMID:30982232|PMID:31214711|PMID:31742824|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35986085|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316979 D RGD:11252150|PMID:25391381 20160627 RGD associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:11372 megacolon ISO RGD:1316979 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20639400 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:14250 Down syndrome ISO RGD:1316979 D RGD:11252150|PMID:25391381 20160627 RGD protein:increased ubiquitination:frontal cortex (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1520 colon carcinoma ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:16116423|PMID:16280053|PMID:17033622|PMID:18483852|PMID:21964575|PMID:22264603|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26709662|PMID:26790966|PMID:27107905|PMID:27165003|PMID:27471560|PMID:28492532|PMID:30256826|PMID:30306255|PMID:31214711|PMID:31366178|PMID:31786208 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1588 thrombocytopenia ISO RGD:1316979 D RGD:11252148|PMID:15613547 20160627 RGD human gene in a mouse model 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:11251779|PMID:18483852 20160622 RGD DNA:missense mutation:cds:p.Q944E (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:7240710 20180711 OMIM 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23644138|PMID:23935105|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29625052|PMID:29641532|PMID:29922827|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33471991|PMID:33619228|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33619228|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:34026625|PMID:34284872|PMID:34585738|PMID:35467778|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer onset ISO RGD:1316979 D RGD:1600525|PMID:11301010 20070312 RGD DNA:missense mutations:cds:p.P47A, p.M299I (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:11252100|PMID:19536649 20160624 RGD DNA:snp:3' utr:C>A (rs7220740) (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:11252107|PMID:17033622 20160624 RGD DNA:mutations:multiple (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:11252109|PMID:23357080 20160624 RGD DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:2394 ovarian cancer ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21964575|PMID:22006311|PMID:23555315|PMID:24240112|PMID:2455662|PMID:24556621|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:29368626|PMID:29470806|PMID:29929473|PMID:30093976|PMID:30982232|PMID:31214711|PMID:31666926|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33313162|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34585738|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:3459 breast carcinoma ISO RGD:1316979 D RGD:11251773|PMID:18345034 20160622 RGD mRNA:increased expression:breast (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:3459 breast carcinoma ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:12872252|PMID:16116423|PMID:16199547|PMID:17033622|PMID:18628483|PMID:19935797|PMID:20159562|PMID:21127055|PMID:21345144|PMID:21964575|PMID:23555315|PMID:24728327|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28423363|PMID:28492532|PMID:28767289|PMID:28961279|PMID:29368626|PMID:29641532|PMID:30322717|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31300551|PMID:31325073|PMID:32283892|PMID:32658311|PMID:32659497|PMID:32885271|PMID:33471991|PMID:33840814|PMID:34284872|PMID:35467778 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1316979 D RGD:11252104|PMID:24708616 20160624 RGD mRNA, protein:increased expression:uterine cervix, nucleus (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:4362 cervical cancer ISO RGD:1316979 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cancer of cervix PMID:18483852|PMID:25741868|PMID:26467025|PMID:26790966|PMID:28492532|PMID:31214711|PMID:32566746 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:4905 pancreatic carcinoma ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:16116423|PMID:17033622|PMID:21964575|PMID:25330149|PMID:25741868|PMID:28492532|PMID:29961768|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32295079|PMID:32885271|PMID:33471991 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31325073|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:34585738|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:630 genetic disease ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:893 Wilson disease ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration PMID:17033622|PMID:25186627|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28492532|PMID:28767289|PMID:31822495|PMID:32659497|PMID:33471991 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21964575 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25722345|PMID:25741868|PMID:25807282|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27443514|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28873162|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31980526|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34585738|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1316979 D RGD:11251782|PMID:17342202 20160623 RGD DNA:snps:introns:c.2158-13912A>C, c.508-31C>G (rs2191249,rs4988344) (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1316979 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:16116424|PMID:16116426|PMID:16973432|PMID:18510924|PMID:19099189|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:20639400|PMID:20980836|PMID:21345144|PMID:22024395|PMID:22287629|PMID:22582397|PMID:23161009|PMID:23276657|PMID:23644138|PMID:23935105|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24728327|PMID:24895130|PMID:25374583|PMID:25583461|PMID:25741868|PMID:26315354|PMID:26596371|PMID:26689913|PMID:26790966|PMID:26921362|PMID:27107905|PMID:28492532|PMID:28911102|PMID:29922827|PMID:30322717|PMID:31265121|PMID:31341520|PMID:31822495|PMID:32427313|PMID:32542039|PMID:33028645|PMID:33471991|PMID:33619228|PMID:34585738 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9004590 Acute Liver Failure IEP D RGD:10755718|PMID:24748974 20160627 RGD mRNA:increased expression:liver (rat) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33804961|PMID:34204722|PMID:34299313|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34034685|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33804961|PMID:33840814|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35402282|PMID:35467778|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007480 Hyperoxia ISO RGD:1550783 D RGD:11252154|PMID:18948842 20160627 RGD protein:increased expression:lung (mouse) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1316979 D RGD:11252149|PMID:22875853 20160627 RGD associated with Breast Neoplasms; human gene in a mouse model 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11301010|PMID:11865300|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14576433|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763152|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20307669|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21398687|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22406018|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23320739|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25640679|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26691941|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28300276|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:30809968 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer severity ISO RGD:1316979 D RGD:11252117|PMID:22526901 20160624 RGD mRNA:increased expression:colon epithelium (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316979 D RGD:11252105|PMID:27165003 20160624 RGD DNA:frameshift mutation:cds:p.N568fsX9 (human) 1307659 Brip1 BRCA1 interacting helicase 1 gene DOID:9460 uterine corpus cancer ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:16116423|PMID:17033622|PMID:21964575|PMID:24728327|PMID:25452441|PMID:25741868|PMID:25807282|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26921362|PMID:28492532|PMID:30254378|PMID:32295079|PMID:33471991 1307660 Hrnr hornerin gene DOID:0111940 immunodeficiency 42 ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1307660 Hrnr hornerin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1307660 Hrnr hornerin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1307660 Hrnr hornerin gene DOID:1540 parathyroid carcinoma ISO RGD:1603472 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307660 Hrnr hornerin gene DOID:5812 MHC class II deficiency ISO RGD:1603472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1307660 Hrnr hornerin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1603472 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1307660 Hrnr hornerin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603472 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307661 Tbc1d7 TBC1 domain family, member 7 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1316981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 1307661 Tbc1d7 TBC1 domain family, member 7 gene DOID:630 genetic disease ISO RGD:1316981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307661 Tbc1d7 TBC1 domain family, member 7 gene DOID:9003816 Macrocephaly ISO RGD:1316981 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Macrocephaly 1307661 Tbc1d7 TBC1 domain family, member 7 gene DOID:9005840 Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive ISO RGD:1316981 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive PMID:23687350|PMID:24515783|PMID:25741868|PMID:28492532 1307662 Ankrd9 ankyrin repeat domain 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1307662 Ankrd9 ankyrin repeat domain 9 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316983 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 PMID:28492532 1307662 Ankrd9 ankyrin repeat domain 9 gene DOID:630 genetic disease ISO RGD:1316983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307662 Ankrd9 ankyrin repeat domain 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:7240710 20130221 OMIM 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bowen-Conradi syndrome PMID:19463982|PMID:25741868|PMID:28492532 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1607076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1607076 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1607076 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1607076 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0111621 Temtamy syndrome ISO RGD:1607076 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1607076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:630 genetic disease ISO RGD:1607076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307665 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1607076 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307666 Enah ENAH, actin regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1316988 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307666 Enah ENAH, actin regulator gene DOID:630 genetic disease ISO RGD:1316988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307666 Enah ENAH, actin regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316988 D RGD:155791678|PMID:35030977 20230105 RGD mRNA:increased expression:liver (human) 1307666 Enah ENAH, actin regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1316988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 1307666 Enah ENAH, actin regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316988 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307668 Mrps31 mitochondrial ribosomal protein S31 gene DOID:630 genetic disease ISO RGD:1316990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307669 Myoz2 myozenin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1316992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17434779|PMID:19472918|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31513939|PMID:31534214 1307669 Myoz2 myozenin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 1307669 Myoz2 myozenin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 1307669 Myoz2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:7240710 20140911 OMIM 1307669 Myoz2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 PMID:17347475|PMID:17434779|PMID:19472918|PMID:21681106|PMID:22987565|PMID:23310962|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31513939|PMID:31534214 1307669 Myoz2 myozenin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17347475|PMID:17434779|PMID:17576681|PMID:19472918|PMID:22310962|PMID:22987565|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27066507|PMID:27341347|PMID:27532257|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:31513939|PMID:31534214|PMID:9536098 1307669 Myoz2 myozenin 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1316992 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 1307669 Myoz2 myozenin 2 gene DOID:630 genetic disease ISO RGD:1316992 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307669 Myoz2 myozenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316992 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:0060366 Hennekam syndrome ISO RGD:1349047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911200|PMID:19935664 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1349047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1349047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:1059 intellectual disability ISO RGD:1349047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:630 genetic disease ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19935664|PMID:21778431|PMID:25741868|PMID:26686525|PMID:28492532|PMID:28985353|PMID:31453292 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349047 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9001487 Facies ISO RGD:1349047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:7240710 20190320 OMIM 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:16199547|PMID:17576681|PMID:19911200|PMID:19935664|PMID:21778431|PMID:22239599|PMID:23653581|PMID:24033266|PMID:24167460|PMID:25741868|PMID:26686525|PMID:27323140|PMID:28073151|PMID:28492532|PMID:28985353|PMID:31453292|PMID:32472549|PMID:32629717|PMID:9536098 1307670 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1349047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911200 1307671 Med23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:7240710 20140911 OMIM 1307671 Med23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY PMID:21868677|PMID:25741868|PMID:25845469|PMID:27311965|PMID:28492532|PMID:30171209|PMID:30847200|PMID:31164858 1307671 Med23 mediator complex subunit 23 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1316995 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1307671 Med23 mediator complex subunit 23 gene DOID:1059 intellectual disability ISO RGD:1316995 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868 1307671 Med23 mediator complex subunit 23 gene DOID:630 genetic disease ISO RGD:1316995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:31164858|PMID:7649538 1307671 Med23 mediator complex subunit 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316995 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307671 Med23 mediator complex subunit 23 gene DOID:9278 hyperargininemia ISO RGD:1316995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arginase deficiency | ClinVar Annotator: match by term: Argininemia PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32778825|PMID:33193012|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316997 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1316997 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:10907 microcephaly ISO RGD:1316997 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:1826 epilepsy ISO RGD:1316997 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:630 genetic disease ISO RGD:1316997 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:9000495 Tremor ISO RGD:1316997 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1307672 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307673 Mcur1 mitochondrial calcium uniporter regulator 1 gene DOID:630 genetic disease ISO RGD:1349094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307674 Slmap sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 1307674 Slmap sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30847666|PMID:9536098 1307674 Slmap sarcolemma associated protein gene DOID:0060319 cardiac arrest ISO RGD:1317000 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Cardiac arrest 1307674 Slmap sarcolemma associated protein gene DOID:13938 amenorrhea ISO RGD:1317000 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1307674 Slmap sarcolemma associated protein gene DOID:630 genetic disease ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307674 Slmap sarcolemma associated protein gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1317002 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1317002 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:10485 esophageal atresia ISO RGD:1317002 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:25741868 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317002 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:4621 holoprosencephaly ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly PMID:25741868|PMID:28492532|PMID:28640243 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:630 genetic disease ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317002 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1307675 Disp1 dispatched RND transporter family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317002 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307676 Fam117b family with sequence similarity 117, member B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1307676 Fam117b family with sequence similarity 117, member B gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1307676 Fam117b family with sequence similarity 117, member B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1307676 Fam117b family with sequence similarity 117, member B gene DOID:630 genetic disease ISO RGD:1317004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307676 Fam117b family with sequence similarity 117, member B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1317004 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1307676 Fam117b family with sequence similarity 117, member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317004 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307676 Fam117b family with sequence similarity 117, member B gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1307678 Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1317007 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1307678 Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 gene DOID:630 genetic disease ISO RGD:1317007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307678 Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317007 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:7240710 20140911 OMIM 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10 PMID:24766809|PMID:24766810|PMID:25741868|PMID:29307788 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602724 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:630 genetic disease ISO RGD:1602724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307679 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307680 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:2717 Bloom syndrome ISO RGD:1605308 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307680 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:5419 schizophrenia ISO RGD:1605308 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307680 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:630 genetic disease ISO RGD:1605308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307680 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:9256 colorectal cancer ISO RGD:1605308 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307681 Ctsg cathepsin G gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1307681 Ctsg cathepsin G gene DOID:630 genetic disease ISO RGD:1317010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307681 Ctsg cathepsin G gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317010 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1307681 Ctsg cathepsin G gene DOID:9004009 Reperfusion Injury ISO RGD:1317011 D RGD:7242055|PMID:17322378 20130326 RGD 1307681 Ctsg cathepsin G gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307682 Ift46 intraflagellar transport 46 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307682 Ift46 intraflagellar transport 46 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1307682 Ift46 intraflagellar transport 46 gene DOID:0080690 RASopathy ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307682 Ift46 intraflagellar transport 46 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1604332 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1307682 Ift46 intraflagellar transport 46 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604332 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1307682 Ift46 intraflagellar transport 46 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307682 Ift46 intraflagellar transport 46 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307682 Ift46 intraflagellar transport 46 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307682 Ift46 intraflagellar transport 46 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307682 Ift46 intraflagellar transport 46 gene DOID:630 genetic disease ISO RGD:1604332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307682 Ift46 intraflagellar transport 46 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604332 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307682 Ift46 intraflagellar transport 46 gene DOID:9007661 Dwarfism ISO RGD:1604332 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307683 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1317013 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:30822429|PMID:32098969 1307683 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:10316 pneumoconiosis ISO RGD:1317013 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1307683 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1317013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307683 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:7240710 20210303 OMIM 1307683 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 76 PMID:25741868|PMID:28492532|PMID:30822429|PMID:32098969 1307684 Extl2 exostosin-like glycosyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1317015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307684 Extl2 exostosin-like glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307684 Extl2 exostosin-like glycosyltransferase 2 gene DOID:9269 maple syrup urine disease ISO RGD:1317015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1307685 Cavin1 caveolae associated protein 1 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:1317017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 1307685 Cavin1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:7240710 20130221 OMIM 1307685 Cavin1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 PMID:12116229|PMID:18698612|PMID:19726876|PMID:20300641|PMID:20684003|PMID:25741868|PMID:26467025|PMID:28492532 1307685 Cavin1 caveolae associated protein 1 gene DOID:14749 methylmalonic acidemia ISO RGD:1317017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 1307685 Cavin1 caveolae associated protein 1 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:1317017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 1307685 Cavin1 caveolae associated protein 1 gene DOID:630 genetic disease ISO RGD:1317017 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307685 Cavin1 caveolae associated protein 1 gene DOID:6432 pulmonary hypertension ISS RGD:1317018 D RGD:13592920 20180518 MouseDO OMIM:615371 1307685 Cavin1 caveolae associated protein 1 gene DOID:9004657 Weight Gain ISO RGD:1317017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1307685 Cavin1 caveolae associated protein 1 gene DOID:9351 diabetes mellitus ISO RGD:1317017 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 1307687 Skor1 SKI family transcriptional corepressor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1307687 Skor1 SKI family transcriptional corepressor 1 gene DOID:2717 Bloom syndrome ISO RGD:1605497 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307687 Skor1 SKI family transcriptional corepressor 1 gene DOID:9256 colorectal cancer ISO RGD:1605497 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307688 Isy1 ISY1 splicing factor homolog gene DOID:0111947 immunodeficiency 21 ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1307688 Isy1 ISY1 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1606526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307688 Isy1 ISY1 splicing factor homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1307688 Isy1 ISY1 splicing factor homolog gene DOID:9270 alkaptonuria ISO RGD:1606526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1307689 Ccdc25 coiled-coil domain containing 25 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1307689 Ccdc25 coiled-coil domain containing 25 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1307689 Ccdc25 coiled-coil domain containing 25 gene DOID:630 genetic disease ISO RGD:1605370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:630 genetic disease ISO RGD:1317023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:6432 pulmonary hypertension IMP D RGD:1627651|PMID:17596340 20081216 RGD 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1317023 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:863 nervous system disease ISO RGD:1317023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:7240710 20230505 OMIM 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma PMID:35789258 1307690 Nfatc2 nuclear factor of activated T-cells 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317023 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 1307691 Rilp Rab interacting lysosomal protein gene DOID:630 genetic disease ISO RGD:1317025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307692 Dmxl1 Dmx-like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307692 Dmxl1 Dmx-like 1 gene DOID:3070 high grade glioma ISO RGD:1317027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 1307692 Dmxl1 Dmx-like 1 gene DOID:630 genetic disease ISO RGD:1317027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307692 Dmxl1 Dmx-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317027 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307692 Dmxl1 Dmx-like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307693 Kifc3 kinesin family member C3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307693 Kifc3 kinesin family member C3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307693 Kifc3 kinesin family member C3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307693 Kifc3 kinesin family member C3 gene DOID:630 genetic disease ISO RGD:1317029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307695 Kif20a kinesin family member 20A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1317032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1307695 Kif20a kinesin family member 20A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307695 Kif20a kinesin family member 20A gene DOID:0080600 COVID-19 ISO RGD:1317032 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307695 Kif20a kinesin family member 20A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1317032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1307695 Kif20a kinesin family member 20A gene DOID:630 genetic disease ISO RGD:1317032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307695 Kif20a kinesin family member 20A gene DOID:684 hepatocellular carcinoma ISO RGD:1317032 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307695 Kif20a kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:7240710 20210728 OMIM 1307695 Kif20a kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:29357359 1307695 Kif20a kinesin family member 20A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317032 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307695 Kif20a kinesin family member 20A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1307696 Fitm2 fat storage-inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:7240710 20191127 OMIM 1307696 Fitm2 fat storage-inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Siddiqi syndrome PMID:25741868|PMID:28067622|PMID:30214770|PMID:30288795 1307696 Fitm2 fat storage-inducing transmembrane protein 2 gene DOID:2234 focal epilepsy ISO RGD:1317034 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1307696 Fitm2 fat storage-inducing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1317034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307696 Fitm2 fat storage-inducing transmembrane protein 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1317034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1307697 Cyrib CYFIP related Rac1 interactor B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354500 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307697 Cyrib CYFIP related Rac1 interactor B gene DOID:9775 diastolic heart failure ISO RGD:1354500 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1307698 Ptpdc1 protein tyrosine phosphatase domain containing 1 gene DOID:12642 hiatus hernia ISO RGD:1317037 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 1307698 Ptpdc1 protein tyrosine phosphatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1317039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:11733564|PMID:28492532 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:7240710 20130221 OMIM 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F PMID:11733556|PMID:11733564|PMID:16199547|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28940310 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080600 COVID-19 ISO RGD:1317039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1317039 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1317039 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317039 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1307699 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:630 genetic disease ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 1307700 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:630 genetic disease ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 1307700 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9001276 Failure to Thrive ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1307700 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1307700 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1307700 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1307700 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:25787132|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317042 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 47 PMID:32051257 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1317042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317042 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3 PMID:31118289 1307701 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:988 mitral valve prolapse ISS RGD:1317042 D RGD:13592920 20201210 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 1307702 Ncoa5 nuclear receptor coactivator 5 gene DOID:2234 focal epilepsy ISO RGD:1317043 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1307702 Ncoa5 nuclear receptor coactivator 5 gene DOID:630 genetic disease ISO RGD:1317043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307703 Tmem161a transmembrane protein 161A gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1603037 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1307703 Tmem161a transmembrane protein 161A gene DOID:630 genetic disease ISO RGD:1603037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307703 Tmem161a transmembrane protein 161A gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1307704 Riox1 ribosomal oxygenase 1 gene DOID:1059 intellectual disability ISO RGD:1317046 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:10283 prostate cancer ISO RGD:1317048 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1317048 D RGD:13504816|PMID:25744653 20180125 RGD 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317048 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:630 genetic disease ISO RGD:1317048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:769 neuroblastoma ISO RGD:1317048 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:29048629 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:8466 retinal degeneration ISO RGD:1317049 D RGD:7775028|PMID:16505058 20131230 RGD mRNA:increased expression:retina 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317048 D RGD:7775027|PMID:20697354 20131230 RGD 1307705 Pak4 p21 (RAC1) activated kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1307706 Commd9 COMM domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1317050 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307706 Commd9 COMM domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1317050 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307706 Commd9 COMM domain containing 9 gene DOID:630 genetic disease ISO RGD:1317050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1317052 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1317052 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23439489 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:2394 ovarian cancer ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28849184 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:4624 Ollier disease ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679937|PMID:19810120|PMID:21520333|PMID:25741868|PMID:28492532|PMID:32293802 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:687 hepatoblastoma ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:25741868 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:7240710 20130221 OMIM 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 PMID:10480354|PMID:10671060|PMID:10679937|PMID:10713884|PMID:10750558|PMID:11169766|PMID:11170095|PMID:11432960|PMID:11668521|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15586175|PMID:15796962|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:18165274|PMID:18373409|PMID:18666861|PMID:18976157|PMID:19309273|PMID:19344451|PMID:19504431|PMID:19810120|PMID:19839753|PMID:20425833|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24496678|PMID:24532482|PMID:24728327|PMID:24728384|PMID:25230886|PMID:25449079|PMID:25468659|PMID:25591329|PMID:25741868|PMID:25744876|PMID:26246518|PMID:26402641|PMID:26961984|PMID:28166811|PMID:28492532|PMID:28690282|PMID:28849184|PMID:29126381|PMID:29529714|PMID:29625052|PMID:30075207|PMID:30288735|PMID:30334991|PMID:30806661|PMID:30997052|PMID:31030431|PMID:31096510|PMID:32293802|PMID:34070849|PMID:34092239|PMID:8894688|PMID:9326317|PMID:9463333|PMID:9536098 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9005285 Osteochondromatosis ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317052 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10679937|PMID:11432960|PMID:17589361|PMID:19344451|PMID:19810120|PMID:24496678|PMID:25741868|PMID:28492532|PMID:8894688|PMID:9463333 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:7240710 20180822 OMIM 1307707 Ext2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome PMID:10679937|PMID:10713884|PMID:10750558|PMID:11432960|PMID:16199547|PMID:16283885|PMID:17041877|PMID:19344451|PMID:19810120|PMID:23439489|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30075207|PMID:30288735|PMID:30997052|PMID:34092239|PMID:9326317 1307709 Sdcbp2 syndecan binding protein 2 gene DOID:630 genetic disease ISO RGD:1317056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307710 Tmem14a transmembrane protein 14A gene DOID:630 genetic disease ISO RGD:1317058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307711 Klf17 KLF transcription factor 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307711 Klf17 KLF transcription factor 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344784 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307711 Klf17 KLF transcription factor 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307711 Klf17 KLF transcription factor 17 gene DOID:630 genetic disease ISO RGD:1344784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307712 Rsph1 radial spoke head component 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532 1307712 Rsph1 radial spoke head component 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1317061 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs2839531) T>C (human) 1307712 Rsph1 radial spoke head component 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1307712 Rsph1 radial spoke head component 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1307712 Rsph1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:7240710 20140911 OMIM 1307712 Rsph1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 1307712 Rsph1 radial spoke head component 1 gene DOID:630 genetic disease ISO RGD:1317061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307712 Rsph1 radial spoke head component 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317061 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1307712 Rsph1 radial spoke head component 1 gene DOID:9263 homocystinuria ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1307712 Rsph1 radial spoke head component 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 1307713 Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:7240710 20220323 OMIM 1307713 Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 1307713 Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit gene DOID:630 genetic disease ISO RGD:1317063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317065 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:13580 cholestasis ISO RGD:1317065 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317065 D RGD:2315654|PMID:12133830 20100107 RGD DNA, mRNA, protein:hypermethylation, decreased expression:kidney 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:5419 schizophrenia ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1317065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:9003517 Spastic Quadriplegic Cerebral Palsy 2 ISO RGD:1317065 D RGD:7240710 20130221 OMIM 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:9003517 Spastic Quadriplegic Cerebral Palsy 2 ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder PMID:16301218|PMID:25741868|PMID:28492532 1307714 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317065 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307716 Tbx6 T-box transcription factor 6 gene DOID:0060019 coronin-1A deficiency ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 1307716 Tbx6 T-box transcription factor 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317068 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1307716 Tbx6 T-box transcription factor 6 gene DOID:0060249 scoliosis ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 1307716 Tbx6 T-box transcription factor 6 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1317068 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1307716 Tbx6 T-box transcription factor 6 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1317068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1307716 Tbx6 T-box transcription factor 6 gene DOID:0080205 CAKUT ISO RGD:1317068 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30578417 1307716 Tbx6 T-box transcription factor 6 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1307716 Tbx6 T-box transcription factor 6 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1317068 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:20503311|PMID:23335591 1307716 Tbx6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:7240710 20140226 OMIM 1307716 Tbx6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:20503311|PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868|PMID:27861764|PMID:28054739|PMID:28492532|PMID:28990171|PMID:30636772|PMID:31015262|PMID:31471994 1307716 Tbx6 T-box transcription factor 6 gene DOID:12849 autistic disorder ISO RGD:1317068 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307716 Tbx6 T-box transcription factor 6 gene DOID:1882 atrial heart septal defect ISO RGD:1317068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1307716 Tbx6 T-box transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1317068 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307716 Tbx6 T-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994 1307716 Tbx6 T-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 1307716 Tbx6 T-box transcription factor 6 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1307716 Tbx6 T-box transcription factor 6 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1317068 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1307717 Tnip2 TNFAIP3 interacting protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1317070 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1307717 Tnip2 TNFAIP3 interacting protein 2 gene DOID:1856 cherubism ISO RGD:1317070 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1307717 Tnip2 TNFAIP3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1317070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0080690 RASopathy ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317072 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0110651 long QT syndrome 10 ISO RGD:1317072 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:7240710 20141015 OMIM 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient | ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1709425|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:31921117|PMID:8490660|PMID:9536098 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:1059 intellectual disability ISO RGD:1317072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:630 genetic disease ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317072 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307718 Cd3g CD3 gamma subunit of T-cell receptor complex gene DOID:9007661 Dwarfism ISO RGD:1317072 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307719 Anxa8 annexin A8 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1317074 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:18223320|REF_RGD_ID:2325735 1307719 Anxa8 annexin A8 gene DOID:4947 cholangiocarcinoma ISO RGD:1317074 D RGD:9068941 20200609 RGD PMID:19376120|REF_RGD_ID:2325733 1307719 Anxa8 annexin A8 gene DOID:5419 schizophrenia ISO RGD:1317074 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307719 Anxa8 annexin A8 gene DOID:630 genetic disease ISO RGD:1317074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307720 Socs7 suppressor of cytokine signaling 7 gene DOID:4001 ovarian carcinoma ISO RGD:1317076 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 1307720 Socs7 suppressor of cytokine signaling 7 gene DOID:630 genetic disease ISO RGD:1317076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307721 Celf1 CUGBP, Elav-like family member 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1307721 Celf1 CUGBP, Elav-like family member 1 gene DOID:1059 intellectual disability ISO RGD:1317078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307721 Celf1 CUGBP, Elav-like family member 1 gene DOID:630 genetic disease ISO RGD:1317078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307722 Mfsd12 major facilitator superfamily domain containing 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317080 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307723 Kif24 kinesin family member 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1307723 Kif24 kinesin family member 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317081 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1307723 Kif24 kinesin family member 24 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1317081 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 1307723 Kif24 kinesin family member 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1307723 Kif24 kinesin family member 24 gene DOID:574 peripheral nervous system disease ISO RGD:1317081 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 1307723 Kif24 kinesin family member 24 gene DOID:630 genetic disease ISO RGD:1317081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307723 Kif24 kinesin family member 24 gene DOID:870 neuropathy ISO RGD:1317081 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 1307723 Kif24 kinesin family member 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1307723 Kif24 kinesin family member 24 gene DOID:9870 galactosemia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1307724 Dsel dermatan sulfate epimerase-like gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317082 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1307724 Dsel dermatan sulfate epimerase-like gene DOID:630 genetic disease ISO RGD:1317082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307724 Dsel dermatan sulfate epimerase-like gene DOID:8445 intestinal volvulus ISO RGD:1317082 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1307724 Dsel dermatan sulfate epimerase-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317082 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307724 Dsel dermatan sulfate epimerase-like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317082 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1307725 Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 gene DOID:1909 melanoma ISO RGD:1317084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 1307725 Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 gene DOID:630 genetic disease ISO RGD:1317084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307725 Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 gene DOID:9296 cleft lip ISO RGD:12133751 D RGD:9068941 20230511 OMIA Cleft lip with or without cleft palate, ADAMTS20-related PMID:13875838|PMID:25798845|PMID:28738009|PMID:28887848|PMID:34838248 1307726 Tspyl1 TSPY-like 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1348944 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1307726 Tspyl1 TSPY-like 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1307726 Tspyl1 TSPY-like 1 gene DOID:0080600 COVID-19 ISO RGD:1348944 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307726 Tspyl1 TSPY-like 1 gene DOID:14447 gonadal dysgenesis ISO RGD:1348944 D RGD:1599672|PMID:15273283 20070212 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 1307726 Tspyl1 TSPY-like 1 gene DOID:630 genetic disease ISO RGD:1348944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307726 Tspyl1 TSPY-like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:7240710 20130221 OMIM 1307726 Tspyl1 TSPY-like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 1307726 Tspyl1 TSPY-like 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1348944 D RGD:1599672|PMID:15273283 20070212 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 1307728 Sntb1 syntrophin, beta 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317088 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1307728 Sntb1 syntrophin, beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317088 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 1307728 Sntb1 syntrophin, beta 1 gene DOID:630 genetic disease ISO RGD:1317088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307729 Zc3h13 zinc finger CCCH type containing 13 gene DOID:630 genetic disease ISO RGD:1317090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307729 Zc3h13 zinc finger CCCH type containing 13 gene DOID:9002189 High Myopia ISO RGD:1317090 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1307730 Nfe2l3 NFE2 like bZIP transcription factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317092 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307730 Nfe2l3 NFE2 like bZIP transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307731 Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317094 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307731 Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:630 genetic disease ISO RGD:1317094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307731 Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317094 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307732 Recql4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:7240710 20130221 OMIM 1307732 Recql4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15897384|PMID:15964893|PMID:16199547|PMID:16630167|PMID:17250521|PMID:17250975|PMID:17372760|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:22730300|PMID:22885111|PMID:23238538|PMID:23899764|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25966250|PMID:26491355|PMID:26556299|PMID:27247962|PMID:27352193|PMID:27425854|PMID:27498913|PMID:28039508|PMID:28076423|PMID:28202063|PMID:28358413|PMID:28486640|PMID:28492532|PMID:28653661|PMID:28724667|PMID:28767289|PMID:28825054|PMID:28873162|PMID:29168297|PMID:29367366|PMID:29462647|PMID:29478780|PMID:29506128|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30086788|PMID:30262796|PMID:30306255|PMID:30651579|PMID:30680959|PMID:30724488|PMID:30995915|PMID:31604778|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33046774|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:33674555|PMID:34006472|PMID:34155702|PMID:34308366|PMID:9536098|PMID:9878247 1307732 Recql4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:7240710 20130221 OMIM 1307732 Recql4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rapadilino syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:16199547|PMID:17250975|PMID:18504617|PMID:18716613|PMID:19291770|PMID:22885111|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25741868|PMID:25966250|PMID:27247962|PMID:28486640|PMID:28492532|PMID:29478780|PMID:29625052|PMID:32482547|PMID:33046774|PMID:33077847|PMID:33294214|PMID:9878247 1307732 Recql4 RecQ like helicase 4 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1317096 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:10678659|PMID:12734318|PMID:12838562|PMID:15964893|PMID:18716613|PMID:25741868 1307732 Recql4 RecQ like helicase 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1307732 Recql4 RecQ like helicase 4 gene DOID:1612 breast cancer ISO RGD:1317096 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 1307732 Recql4 RecQ like helicase 4 gene DOID:1907 malignant fibrous histiocytoma ISO RGD:1317096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant fibrous histiocytoma PMID:12734318|PMID:12952869|PMID:25741868|PMID:28492532 1307732 Recql4 RecQ like helicase 4 gene DOID:2394 ovarian cancer ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15221963|PMID:24728327|PMID:25741868|PMID:26491355|PMID:28202063|PMID:28492532 1307732 Recql4 RecQ like helicase 4 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1317096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18616953 1307732 Recql4 RecQ like helicase 4 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1317096 D RGD:1599421|PMID:10678659 20070201 RGD 1307732 Recql4 RecQ like helicase 4 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:17250521|PMID:18716613|PMID:21418107|PMID:24033266|PMID:24635570|PMID:25120469|PMID:25326635|PMID:25741868|PMID:27247962|PMID:28492532|PMID:29367366|PMID:29642415 1307732 Recql4 RecQ like helicase 4 gene DOID:3374 peripheral osteosarcoma ISO RGD:1317096 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: High grade surface osteosarcoma PMID:10678659|PMID:12734318|PMID:12838562|PMID:15964893|PMID:18716613|PMID:25741868 1307732 Recql4 RecQ like helicase 4 gene DOID:4621 holoprosencephaly ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307732 Recql4 RecQ like helicase 4 gene DOID:630 genetic disease ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:18716613|PMID:21418107|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28492532|PMID:28767289|PMID:29367366|PMID:29641532|PMID:29642415|PMID:30306255|PMID:30651579|PMID:30680959|PMID:32139749|PMID:32659497 1307732 Recql4 RecQ like helicase 4 gene DOID:687 hepatoblastoma ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 1307732 Recql4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:7240710 20191023 OMIM 1307732 Recql4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28039508|PMID:28486640|PMID:28492532|PMID:28767289|PMID:28873162|PMID:29168297|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30086788|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31604778|PMID:32139749|PMID:32482547|PMID:32659497|PMID:33046774|PMID:33077847|PMID:33294214|PMID:34308366|PMID:9536098|PMID:9878247 1307732 Recql4 RecQ like helicase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:27425854|PMID:28202063|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33674555|PMID:9536098|PMID:9878247 1307732 Recql4 RecQ like helicase 4 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1317097 D RGD:13207506|PMID:25859855 20170803 RGD 1307732 Recql4 RecQ like helicase 4 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 1307732 Recql4 RecQ like helicase 4 gene DOID:9538 multiple myeloma ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:28492532 1307733 Lgr5 leucine rich repeat containing G protein coupled receptor 5 gene DOID:0060604 ankyloglossia ISS RGD:1550798 D RGD:13592920 20180518 MouseDO OMIM:106280 1307733 Lgr5 leucine rich repeat containing G protein coupled receptor 5 gene DOID:630 genetic disease ISO RGD:1605118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307733 Lgr5 leucine rich repeat containing G protein coupled receptor 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 1307733 Lgr5 leucine rich repeat containing G protein coupled receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25280562 1307734 Tbx1 T-box transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317100 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1307734 Tbx1 T-box transcription factor 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1317101 D RGD:13592920 20190516 MouseDO 1307734 Tbx1 T-box transcription factor 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1307734 Tbx1 T-box transcription factor 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1307734 Tbx1 T-box transcription factor 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1317100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1307734 Tbx1 T-box transcription factor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1317100 D RGD:155641234|PMID:32110744 20221102 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1317100 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307734 Tbx1 T-box transcription factor 1 gene DOID:10754 otitis media ISS RGD:1317101 D RGD:13592920 20180518 MouseDO OMIM:166760 1307734 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15190012|PMID:16399080|PMID:17000704 1307734 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:7240710 20140806 OMIM 1307734 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15355425|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:18375573|PMID:19948535|PMID:20937753|PMID:21921585|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25741868|PMID:25860641|PMID:26467025|PMID:26805781|PMID:26805782|PMID:27879657|PMID:28272434|PMID:28492532|PMID:29250159|PMID:29500247|PMID:30007050|PMID:30245509|PMID:30773290|PMID:31690835|PMID:32110744|PMID:32581362|PMID:9536098 1307734 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317101 D RGD:155641238|PMID:25197075 20221103 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317101 D RGD:1578374|PMID:11242110 20221103 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317101 D RGD:9590333|PMID:22921202 20221108 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:11199 hypoparathyroidism ISO RGD:1317100 D RGD:155641234|PMID:32110744 20221102 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:11372 megacolon ISO RGD:1317100 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307734 Tbx1 T-box transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307734 Tbx1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:155641243|PMID:15190012 20221103 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:7240710 20180418 OMIM 1307734 Tbx1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:11748311|PMID:15355425|PMID:16684884|PMID:17273972|PMID:18375573|PMID:25741868|PMID:28492532 1307734 Tbx1 T-box transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1317100 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307734 Tbx1 T-box transcription factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317100 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1307734 Tbx1 T-box transcription factor 1 gene DOID:13994 cleidocranial dysplasia ISO RGD:1317101 D RGD:155641242|PMID:25209980 20221103 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:14780 KBG syndrome ISO RGD:1317100 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: KBG syndrome 1307734 Tbx1 T-box transcription factor 1 gene DOID:1657 ventricular septal defect ISO RGD:1317100 D RGD:155631302|PMID:22801995 20221031 RGD DNA:SNP:promoter:g.4199C>T (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:11342394|PMID:25860641 20221103 RGD DNA:nonsense mutation:CDS:p.Q277X (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17000704 1307734 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:155631308|PMID:29568912 20221101 RGD mRNA, protein:decreased expression:blood (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:155663346|PMID:29596833 20221109 RGD DNA:missense mutation:CDS:p.P190Q (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:155663347|PMID:22185286 20221109 RGD DNA:SNPs:intron 1: (rs5748417, rs5748418) (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1317100 D RGD:155641234|PMID:32110744 20221102 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1317100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532|PMID:30773290 1307734 Tbx1 T-box transcription factor 1 gene DOID:2213 hemorrhagic disease ISO RGD:1317100 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1307734 Tbx1 T-box transcription factor 1 gene DOID:3021 acute kidney failure IEP D RGD:155882498|PMID:24817956 20230125 RGD mRNA:increased expression:kidney (rat) 1307734 Tbx1 T-box transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1317100 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307734 Tbx1 T-box transcription factor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317100 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1307734 Tbx1 T-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307734 Tbx1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 1307734 Tbx1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:7240710 20140806 OMIM 1307734 Tbx1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:11748311|PMID:15355425|PMID:18375573|PMID:19948535|PMID:24998776|PMID:25741868|PMID:28272434|PMID:28492532 1307734 Tbx1 T-box transcription factor 1 gene DOID:674 cleft palate ISO RGD:1317101 D RGD:155631306|PMID:30121012 20221101 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:674 cleft palate ISO RGD:1317101 D RGD:155641231|PMID:25556186 20221102 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1317101 D RGD:155663362|PMID:16452092 20221111 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:9002156 Takao VCF Syndrome ISO RGD:1317100 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome PMID:14585638|PMID:15703190|PMID:17273972 1307734 Tbx1 T-box transcription factor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317101 D RGD:11561941|PMID:21364285 20221101 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317101 D RGD:155663349|PMID:28105375 20221110 RGD DNA:missense mutation:CDS:p.W118R (mouse) 1307734 Tbx1 T-box transcription factor 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1317100 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1307734 Tbx1 T-box transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317100 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307734 Tbx1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:7240710 20180530 OMIM 1307734 Tbx1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal heart malformations PMID:11748311|PMID:14585638|PMID:15355425|PMID:15703190|PMID:17273972|PMID:17576681|PMID:18375573|PMID:25741868|PMID:28492532|PMID:9536098 1307734 Tbx1 T-box transcription factor 1 gene DOID:9007661 Dwarfism ISO RGD:1317100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1307734 Tbx1 T-box transcription factor 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1307734 Tbx1 T-box transcription factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15190012|PMID:17000704 1307734 Tbx1 T-box transcription factor 1 gene DOID:9009050 Hypocalcemia ISO RGD:1317100 D RGD:155641234|PMID:32110744 20221102 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) 1307734 Tbx1 T-box transcription factor 1 gene DOID:9408 acute myocardial infarction treatment IEP D RGD:155882497|PMID:27422448 20230125 RGD 1307734 Tbx1 T-box transcription factor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1317100 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 1307735 Ankrd55 ankyrin repeat domain 55 gene DOID:630 genetic disease ISO RGD:1605952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307735 Ankrd55 ankyrin repeat domain 55 gene DOID:7148 rheumatoid arthritis ISO RGD:1605952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1307735 Ankrd55 ankyrin repeat domain 55 gene DOID:9001341 Chloracne ISO RGD:1605952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1307735 Ankrd55 ankyrin repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605952 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307736 Mlec malectin gene DOID:630 genetic disease ISO RGD:1354476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307737 Syngr4 synaptogyrin 4 gene DOID:630 genetic disease ISO RGD:1317104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307739 Morn5 MORN repeat containing 5 gene DOID:630 genetic disease ISO RGD:1317107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307740 Natd1 N-acetyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307741 Scrn2 secernin 2 gene DOID:630 genetic disease ISO RGD:1317110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307742 Pappa pappalysin gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1317112 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 1307742 Pappa pappalysin gene DOID:10763 hypertension ISO RGD:1317112 D RGD:1642331|PMID:12224070 20070912 RGD associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum 1307742 Pappa pappalysin gene DOID:2349 arteriosclerosis ISO RGD:1317112 D RGD:1642326|PMID:16614002 20070912 RGD protein:increased expression:serum 1307742 Pappa pappalysin gene DOID:2349 arteriosclerosis ISO RGD:1317113 D RGD:1642325|PMID:17510462 20070912 RGD mRNA:increased expression:aorta 1307742 Pappa pappalysin gene DOID:289 endometriosis ISO RGD:1317112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1307742 Pappa pappalysin gene DOID:3393 coronary artery disease ISO RGD:1317112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 1307742 Pappa pappalysin gene DOID:3393 coronary artery disease severity ISO RGD:1317112 D RGD:1642327|PMID:16055491 20070912 RGD 1307742 Pappa pappalysin gene DOID:3407 carotid artery disease ISO RGD:1317112 D RGD:1642330|PMID:12524241 20070912 RGD associated with Hyperlipidemia;protein:increased expression:serum 1307742 Pappa pappalysin gene DOID:5844 myocardial infarction ISO RGD:1317112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 1307742 Pappa pappalysin gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317112 D RGD:1642324|PMID:17700210 20070912 RGD DNA:polymorphism:intron 1307742 Pappa pappalysin gene DOID:630 genetic disease ISO RGD:1317112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307742 Pappa pappalysin gene DOID:8805 intermediate coronary syndrome ISO RGD:1317112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 1307742 Pappa pappalysin gene DOID:90 degenerative disc disease ISO RGD:1317112 D RGD:10412724|PMID:18552658 20151124 RGD protein:increased expression:vertebral disc: 1307742 Pappa pappalysin gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:1642328|PMID:15531533 20070912 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 1307742 Pappa pappalysin gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:1642329|PMID:14661010 20070912 RGD protein:increased expression:serum 1307742 Pappa pappalysin gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1317112 D RGD:2313777|PMID:9512318 20091014 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum 1307742 Pappa pappalysin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1317112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 1307742 Pappa pappalysin gene DOID:9007456 Female Infertility ISO RGD:1317112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20130263 1307742 Pappa pappalysin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317112 D RGD:2313776|PMID:17728480 20091014 RGD protein:decreased expression:serum 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1317114 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:7240710 20171011 OMIM 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 PMID:17576681|PMID:22279524|PMID:25344692|PMID:25741868|PMID:28492532|PMID:31077665|PMID:5936364|PMID:9536098 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317114 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1317114 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1317114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1317114 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:10907 microcephaly ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:630 genetic disease ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27660388|PMID:28492532 1307743 Tubgcp6 tubulin, gamma complex associated protein 6 gene DOID:9005482 Microcephaly and Chorioretinopathy ISO RGD:1317114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability PMID:25344692|PMID:25741868|PMID:28492532 1307744 Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:0050562 West syndrome ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 1307744 Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307745 Cep131 centrosomal protein 131 gene DOID:630 genetic disease ISO RGD:1346806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307745 Cep131 centrosomal protein 131 gene DOID:684 hepatocellular carcinoma ISO RGD:1346806 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307747 Actl6a actin-like 6A gene DOID:0050572 cone-rod dystrophy ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:0050840 cervical dystonia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:0060320 inguinal hernia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:0060321 umbilical hernia ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:0111546 Currarino syndrome ISO RGD:1603412 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1307747 Actl6a actin-like 6A gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603412 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1307747 Actl6a actin-like 6A gene DOID:1882 atrial heart septal defect ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:630 genetic disease ISO RGD:1603412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307747 Actl6a actin-like 6A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:9000727 Syncope ISO RGD:1603412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868|PMID:28649782|PMID:30004997 1307747 Actl6a actin-like 6A gene DOID:9007921 Spina Bifida Cystica IEP D RGD:9587760|PMID:23677776 20141016 RGD 1307747 Actl6a actin-like 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1603412 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28649782 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1317121 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1317121 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:25741868|PMID:34008892 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:7240710 20190320 OMIM 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:12676901|PMID:12807965|PMID:14517949|PMID:14571271|PMID:14627693|PMID:14997421|PMID:15452385|PMID:15720303|PMID:15742365|PMID:15942875|PMID:16199547|PMID:16222665|PMID:16232326|PMID:16247291|PMID:16770806|PMID:17090394|PMID:17561922|PMID:17565728|PMID:17565729|PMID:17576681|PMID:18001468|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19763152|PMID:19876911|PMID:20018718|PMID:20307669|PMID:21196496|PMID:21567906|PMID:21597970|PMID:21738022|PMID:21834047|PMID:21972110|PMID:22406018|PMID:22924495|PMID:23190751|PMID:23333153|PMID:23592277|PMID:23599694|PMID:23806086|PMID:23913520|PMID:24088041|PMID:24412544|PMID:24819041|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25608832|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26043501|PMID:26047794|PMID:26257172|PMID:26613968|PMID:26633545|PMID:26690673|PMID:26896805|PMID:26938784|PMID:27604501|PMID:27834868|PMID:28128410|PMID:28475857|PMID:28492532|PMID:29264563|PMID:29276005|PMID:30029678|PMID:30719864|PMID:31147750|PMID:31981491|PMID:32170002|PMID:32277047|PMID:33389145|PMID:34008892|PMID:34033256|PMID:9536098 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1317121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12807965 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1317121 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Preeclampsia PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:10907 microcephaly ISO RGD:1317121 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:10907 microcephaly ISO RGD:1317121 D RGD:9590157|PMID:23599694 20141114 RGD associated with Growth Disorders;DNA:duplications:multiple (human) 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1317121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18001468 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1317121 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autism PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28492532 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14731 Weaver syndrome ISO RGD:1317121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12807965 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14731 Weaver syndrome ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:18414213|PMID:25741868|PMID:28492532 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14748 Sotos syndrome ISO RGD:1317121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15580547|PMID:15640245|PMID:16188863|PMID:16232326|PMID:17561922|PMID:18001468|PMID:18505455|PMID:20101679|PMID:21972110 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14748 Sotos syndrome ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral gigantism | ClinVar Annotator: match by term: Sotos syndrome PMID:11896389|PMID:12464997|PMID:12525543|PMID:12676901|PMID:14571271|PMID:14997421|PMID:15452385|PMID:15580547|PMID:15942875|PMID:16222665|PMID:16247291|PMID:16329110|PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29264563|PMID:29276005 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14748 Sotos syndrome ISO RGD:1317121 D RGD:9590145|PMID:14571271 20141114 RGD DNA:mutations:multiple (human) 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:1826 epilepsy ISO RGD:1317121 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1317121 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:12464997|PMID:12807965|PMID:14571271|PMID:15452385|PMID:15742365|PMID:15942875|PMID:16232326|PMID:16247291|PMID:17561922|PMID:17565729|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19876911|PMID:21196496|PMID:21597970|PMID:21972110|PMID:22924495|PMID:23190751|PMID:24412544|PMID:25326635|PMID:25326637|PMID:25608832|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26690673|PMID:26896805|PMID:27834868|PMID:28475857|PMID:28492532|PMID:30719864 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:5648 choroid plexus carcinoma ISO RGD:1317121 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:630 genetic disease ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11226167|PMID:12464997|PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15720303|PMID:15942875|PMID:16222665|PMID:16232326|PMID:16247291|PMID:17565729|PMID:18001468|PMID:18414213|PMID:21972110|PMID:23592277|PMID:24412544|PMID:25741868|PMID:25741869|PMID:26613968|PMID:26690673|PMID:26876097|PMID:28475857|PMID:28492532 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:769 neuroblastoma severity ISO RGD:1317121 D RGD:9590155|PMID:20018718 20141114 RGD DNA:hypermethylation:promoter:CpG islands (human) 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9003133 Hypertelorism ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317121 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1614441 D RGD:9590156|PMID:22832494 20141114 RGD 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9006084 Gigantism ISO RGD:1317121 D RGD:11568154|PMID:16222665 20161219 RGD DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532|PMID:32277047 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317121 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1317121 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:17565729|PMID:23190751|PMID:25741868|PMID:28492532 1307748 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1317121 D RGD:9590149|PMID:23630019 20141114 RGD DNA:translocations:multiple (human) 1307749 Exoc3l4 exocyst complex component 3-like 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1307749 Exoc3l4 exocyst complex component 3-like 4 gene DOID:12849 autistic disorder ISO RGD:1349636 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Autism 1307749 Exoc3l4 exocyst complex component 3-like 4 gene DOID:630 genetic disease ISO RGD:1349636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307749 Exoc3l4 exocyst complex component 3-like 4 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1307750 Nedd1 NEDD1 gamma-tubulin ring complex targeting factor gene DOID:630 genetic disease ISO RGD:1317123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:0014667 disease of metabolism ISO RGD:730973 D RGD:1581420|PMID:10600799 20090609 RGD mRNA, protein:increased expression:liver 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:730972 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:10211 cholelithiasis ISO RGD:730973 D RGD:1581417|PMID:15062879 19990101 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer ISO RGD:730972 D RGD:9068941 20220825 RGD PMID:15026365|REF_RGD_ID:1581413 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730972 D RGD:1581413|PMID:15026365 20091217 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:1115 sarcoma treatment ISO RGD:730972 D RGD:151660332|PMID:31089155 20220303 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:11832 visual epilepsy IEP D RGD:2308818|PMID:19124072 20090609 RGD mRNA, protein:decreased expression:brain 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:2527 nephrosis IEP D RGD:2307223|PMID:19147991 20090609 RGD protein:altered localization:nucleus 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:3407 carotid artery disease ISO RGD:730972 D RGD:1581414|PMID:12801623 19990101 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:557 kidney disease IEP D RGD:1625196|PMID:15944339 20090610 RGD protein:altered localization:kidney 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:730972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease IEP D RGD:2308825|PMID:16814791 20090610 RGD mRNA, protein:increased expression:liver 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease ISO RGD:730972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:8725 vascular dementia ISO RGD:730972 D RGD:1581412|PMID:16082694 19990101 RGD DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia IEP D RGD:1581819|PMID:16741953 20090610 RGD protein:altered localization:liver 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:1581415|PMID:15547298 20090609 RGD DNA:polymorphism: :1784G>C (human) 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:1625197|PMID:11950857 20070529 RGD DNA:mutations:exon:p.V623M, p.R645Q (human) 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:2308813|PMID:18095312 20090609 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:730972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730972 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730973 D RGD:1581418|PMID:16046298 20090609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730973 D RGD:2308815|PMID:16936198 20090609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9002449 Glomus Jugulare Tumor ISO RGD:730973 D RGD:1581416|PMID:16316337 19990101 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:730972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20699619 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730972 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730972 D RGD:1581419|PMID:15644403 19990101 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9455 lipid storage disease IEP D RGD:2308821|PMID:17524234 20090609 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730972 D RGD:2308812|PMID:18682608 20090609 RGD 1307751 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9970 obesity IEP D RGD:2308843|PMID:9786926 20090610 RGD protein:increased expression:fat cell, nucleus 1307752 Rab5if RAB5 interacting factor gene DOID:0060249 scoliosis ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:24194475|PMID:35614220 1307752 Rab5if RAB5 interacting factor gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:24194475|PMID:35614220 1307752 Rab5if RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:7240710 20220810 OMIM 1307752 Rab5if RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 PMID:24194475|PMID:35614220 1307752 Rab5if RAB5 interacting factor gene DOID:1059 intellectual disability ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:24194475|PMID:35614220 1307752 Rab5if RAB5 interacting factor gene DOID:2234 focal epilepsy ISO RGD:1317125 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1307752 Rab5if RAB5 interacting factor gene DOID:9003133 Hypertelorism ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24194475|PMID:35614220 1307752 Rab5if RAB5 interacting factor gene DOID:9003816 Macrocephaly ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24194475|PMID:35614220 1307752 Rab5if RAB5 interacting factor gene DOID:9005616 Micrognathism ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:24194475|PMID:35614220 1307753 Podnl1 podocan-like 1 gene DOID:630 genetic disease ISO RGD:1602677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307754 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:0080074 neural tube defect ISO RGD:1605986 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Neural tube defect 1307754 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:13580 cholestasis ISO RGD:1605986 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1307754 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:630 genetic disease ISO RGD:1605986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307754 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:9455 lipid storage disease ISO RGD:1605986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602181 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1602181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307756 Dcst1 DC-STAMP domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602181 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307757 Sphk2 sphingosine kinase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1317131 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23043544 1307757 Sphk2 sphingosine kinase 2 gene DOID:630 genetic disease ISO RGD:1317131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307757 Sphk2 sphingosine kinase 2 gene DOID:9008023 Memory Disorders ISO RGD:1317131 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859201 1307758 Aprt adenine phosphoribosyl transferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:7240710 20141015 OMIM 1307758 Aprt adenine phosphoribosyl transferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:10393170|PMID:11243733|PMID:1353080|PMID:15571218|PMID:1673292|PMID:17126311|PMID:17576681|PMID:1781410|PMID:19435978|PMID:1985452|PMID:20150536|PMID:21304254|PMID:2135300|PMID:21635362|PMID:22212387|PMID:2227951|PMID:22988602|PMID:23430916|PMID:24459232|PMID:24940675|PMID:24986359|PMID:2502918|PMID:25741868|PMID:25983915|PMID:25984046|PMID:26724837|PMID:27994857|PMID:28492532|PMID:28566603|PMID:28717278|PMID:30106368|PMID:30355577|PMID:30389108|PMID:30890413|PMID:30993240|PMID:31201003|PMID:31440706|PMID:3343350|PMID:3554238|PMID:3680503|PMID:7685481|PMID:7758207|PMID:7912608|PMID:7915931|PMID:8882882|PMID:9298830|PMID:9521589|PMID:9536098 1307758 Aprt adenine phosphoribosyl transferase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317133 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1307758 Aprt adenine phosphoribosyl transferase gene DOID:0080653 urolithiasis ISO RGD:1317133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7766|PMID:3876264 1307758 Aprt adenine phosphoribosyl transferase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1307758 Aprt adenine phosphoribosyl transferase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 1307758 Aprt adenine phosphoribosyl transferase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome PMID:25741868|PMID:28492532 1307758 Aprt adenine phosphoribosyl transferase gene DOID:14780 KBG syndrome ISO RGD:1317133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 1307758 Aprt adenine phosphoribosyl transferase gene DOID:4450 renal cell carcinoma ISO RGD:1317133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1307758 Aprt adenine phosphoribosyl transferase gene DOID:630 genetic disease ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307758 Aprt adenine phosphoribosyl transferase gene DOID:684 hepatocellular carcinoma IEP D RGD:5135035|PMID:6327016 20110711 RGD protein:increased activity:hepatoma (rat) 1307758 Aprt adenine phosphoribosyl transferase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1317133 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1307758 Aprt adenine phosphoribosyl transferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599204|PMID:2451510 20070119 RGD protein:decreased activity:mammary gland (rat) 1307758 Aprt adenine phosphoribosyl transferase gene DOID:9008939 Breast Neoplasms ISO RGD:1317133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 1307760 Nsmce1 NSE1 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1350522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307761 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:12849 autistic disorder ISO RGD:1317138 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307761 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:630 genetic disease ISO RGD:1317138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307761 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747640 1307763 Actl6b actin-like 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:32312822 1307763 Actl6b actin-like 6B gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1351133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 1307763 Actl6b actin-like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:7240710 20190731 OMIM 1307763 Actl6b actin-like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76 PMID:25741868|PMID:26539891|PMID:28492532|PMID:30237576|PMID:30656450|PMID:31031012|PMID:34008892 1307763 Actl6b actin-like 6B gene DOID:1059 intellectual disability ISO RGD:1351133 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 1307763 Actl6b actin-like 6B gene DOID:12849 autistic disorder ISO RGD:1351133 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 1307763 Actl6b actin-like 6B gene DOID:1826 epilepsy ISO RGD:1351133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307763 Actl6b actin-like 6B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351133 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 1307763 Actl6b actin-like 6B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351133 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307763 Actl6b actin-like 6B gene DOID:630 genetic disease ISO RGD:1351133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 1307763 Actl6b actin-like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:7240710 20190807 OMIM 1307763 Actl6b actin-like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with severe speech and ambulation defects PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892|PMID:35887114 1307763 Actl6b actin-like 6B gene DOID:9007921 Spina Bifida Cystica IEP D RGD:9587760|PMID:23677776 20141016 RGD 1307763 Actl6b actin-like 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1351133 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 1307764 Elk3 ETS transcription factor ELK3 gene DOID:0060646 congenital chylothorax ISS RGD:1317144 D RGD:13592920 20180518 MouseDO OMIM:603523 1307764 Elk3 ETS transcription factor ELK3 gene DOID:630 genetic disease ISO RGD:1317143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307764 Elk3 ETS transcription factor ELK3 gene DOID:9008939 Breast Neoplasms ISO RGD:1317143 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 1307764 Elk3 ETS transcription factor ELK3 gene DOID:9775 diastolic heart failure ISO RGD:1317143 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1307765 Cmtm6 CKLF-like MARVEL transmembrane domain containing 6 gene DOID:630 genetic disease ISO RGD:1317145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307766 Gan gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:7240710 20180221 OMIM 1307766 Gan gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:11053687|PMID:11062483|PMID:11971098|PMID:12655563|PMID:12668605|PMID:14718689|PMID:15897506|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:17587580|PMID:19231187|PMID:19295179|PMID:20949505|PMID:21356581|PMID:2153943|PMID:23248352|PMID:23316953|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24464710|PMID:24627108|PMID:24758703|PMID:25025039|PMID:25040701|PMID:25326635|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29876741|PMID:30373780|PMID:30532362|PMID:32999401|PMID:9536098 1307766 Gan gigaxonin gene DOID:1059 intellectual disability ISO RGD:1317147 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1307766 Gan gigaxonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317147 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 1307766 Gan gigaxonin gene DOID:574 peripheral nervous system disease ISO RGD:1317147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19398414 1307766 Gan gigaxonin gene DOID:574 peripheral nervous system disease ISO RGD:1317147 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 1307766 Gan gigaxonin gene DOID:630 genetic disease ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11062483|PMID:12655563|PMID:12668605|PMID:14718689|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:20949505|PMID:23248352|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24758703|PMID:25025039|PMID:25741868|PMID:26392352|PMID:28492532|PMID:32999401|PMID:9536098 1307766 Gan gigaxonin gene DOID:870 neuropathy ISO RGD:1317147 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 1307766 Gan gigaxonin gene DOID:9000462 Giant Axonal Neuropathy ISO RGD:1317147 D RGD:11554173 20180227 CTD CTD Direct Evidence: marker/mechanism 1307766 Gan gigaxonin gene DOID:9005603 Muscle Hypotonia ISO RGD:1317147 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hypotonia 1307767 Mfsd6l major facilitator superfamily domain containing 6-like gene DOID:630 genetic disease ISO RGD:1603890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307768 Tm9sf4 transmembrane 9 superfamily member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1307768 Tm9sf4 transmembrane 9 superfamily member 4 gene DOID:630 genetic disease ISO RGD:1317150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:7240710 20171011 OMIM 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1317152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:7240710 20130425 OMIM 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 51 PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:20451172|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25776555|PMID:25999674|PMID:26195043|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33964006|PMID:9536098 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1059 intellectual disability ISO RGD:1317152 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:31736247|PMID:32962042|PMID:33138063|PMID:33587123|PMID:33964006|PMID:9536098 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1317152 D RGD:1624198|PMID:14520415 20070503 RGD DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:4448 macular degeneration ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:630 genetic disease ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:8466 retinal degeneration ISO RGD:12071899 D RGD:9068941 20221201 OMIA Progressive retinal atrophy, TTC8-related PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094 1307769 Ttc8 tetratricopeptide repeat domain 8 gene DOID:8501 fundus dystrophy ISO RGD:1317152 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 1307770 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307770 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307770 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307770 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1307770 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:630 genetic disease ISO RGD:1317154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307771 Wiz WIZ zinc finger gene DOID:1936 atherosclerosis ISO RGD:1607009 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 1307771 Wiz WIZ zinc finger gene DOID:630 genetic disease ISO RGD:1607009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307772 Ripor1 RHO family interacting cell polarization regulator 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307772 Ripor1 RHO family interacting cell polarization regulator 1 gene DOID:630 genetic disease ISO RGD:1606508 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307773 Pgp phosphoglycolate phosphatase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 1307773 Pgp phosphoglycolate phosphatase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351096 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1307773 Pgp phosphoglycolate phosphatase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1307773 Pgp phosphoglycolate phosphatase gene DOID:1826 epilepsy ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307773 Pgp phosphoglycolate phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351096 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307773 Pgp phosphoglycolate phosphatase gene DOID:2871 endometrial carcinoma ISO RGD:1351096 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1307773 Pgp phosphoglycolate phosphatase gene DOID:630 genetic disease ISO RGD:1351096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307773 Pgp phosphoglycolate phosphatase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351096 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1307774 Nup37 nucleoporin 37 gene DOID:630 genetic disease ISO RGD:1317159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307774 Nup37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:7240710 20190315 OMIM 1307774 Nup37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive PMID:25741868|PMID:30179222 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:1598985|PMID:8417785 20070110 RGD 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317161 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1317161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:7240710 20190315 OMIM 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 PMID:25741868|PMID:28492532|PMID:28575652 1307775 Kdsr 3-ketodihydrosphingosine reductase gene DOID:630 genetic disease ISO RGD:1317161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307776 Opalin oligodendrocytic myelin paranodal and inner loop protein gene DOID:630 genetic disease ISO RGD:1317163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307777 Rbms1 RNA binding motif, single stranded interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1317165 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1307777 Rbms1 RNA binding motif, single stranded interacting protein 1 gene DOID:630 genetic disease ISO RGD:1317165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307778 Tmem168 transmembrane protein 168 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605052 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307778 Tmem168 transmembrane protein 168 gene DOID:5419 schizophrenia ISO RGD:1605052 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307778 Tmem168 transmembrane protein 168 gene DOID:630 genetic disease ISO RGD:1605052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307778 Tmem168 transmembrane protein 168 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605052 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307779 Rfx3 regulatory factor X3 gene DOID:0050545 visceral heterotaxy ISS RGD:1317169 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1307779 Rfx3 regulatory factor X3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1307779 Rfx3 regulatory factor X3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1307779 Rfx3 regulatory factor X3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1317168 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 1307779 Rfx3 regulatory factor X3 gene DOID:37 skin disease ISO RGD:1317168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1307779 Rfx3 regulatory factor X3 gene DOID:630 genetic disease ISO RGD:1317168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307779 Rfx3 regulatory factor X3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317168 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307779 Rfx3 regulatory factor X3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1307779 Rfx3 regulatory factor X3 gene DOID:9008582 Developmental Disease ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:0080600 COVID-19 ISO RGD:1317172 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:0090043 dystonia 5 ISO RGD:1317172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1317172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:630 genetic disease ISO RGD:1317172 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:15090802|PMID:23292002 20191219 RGD associated with alcoholism; protein:increased expression:liver 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:15090800|PMID:22390936 20191219 RGD mRNA:increased expression:liver 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:15090801|PMID:27314282 20191219 RGD protein:decreased expression:liver 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317172 D RGD:15090802|PMID:23292002 20191219 RGD 1307781 Cdkn3 cyclin-dependent kinase inhibitor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307783 Ccne2 cyclin E2 gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317175 D RGD:13504681|PMID:27431942 20180116 RGD 1307783 Ccne2 cyclin E2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307783 Ccne2 cyclin E2 gene DOID:1790 malignant mesothelioma ISO RGD:1317175 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1307783 Ccne2 cyclin E2 gene DOID:2526 prostate adenocarcinoma ISO RGD:1317176 D RGD:13504706|PMID:25315431 20180117 RGD 1307783 Ccne2 cyclin E2 gene DOID:289 endometriosis ISO RGD:1317175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1307783 Ccne2 cyclin E2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317175 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 1307783 Ccne2 cyclin E2 gene DOID:630 genetic disease ISO RGD:1317175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307784 Prpf4b pre-mRNA processing factor 4B gene DOID:630 genetic disease ISO RGD:1317177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307785 Rassf4 Ras association domain family member 4 gene DOID:630 genetic disease ISO RGD:1317179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307785 Rassf4 Ras association domain family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307786 Commd7 COMM domain containing 7 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1317181 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 1307786 Commd7 COMM domain containing 7 gene DOID:630 genetic disease ISO RGD:1317181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307787 Snx20 sorting nexin 20 gene DOID:0111122 nephronophthisis 14 ISO RGD:1604540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1307787 Snx20 sorting nexin 20 gene DOID:630 genetic disease ISO RGD:1604540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307788 Sgcz sarcoglycan zeta gene DOID:37 skin disease ISO RGD:1317183 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 1307788 Sgcz sarcoglycan zeta gene DOID:630 genetic disease ISO RGD:1317183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307788 Sgcz sarcoglycan zeta gene DOID:670 amphetamine abuse ISO RGD:1317183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1307789 Mri1 methylthioribose-1-phosphate isomerase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1604271 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Severe cystic degeneration of the brain PMID:25558065 1307789 Mri1 methylthioribose-1-phosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:1604271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307790 Eif4e2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0060476 Perlman syndrome ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1307790 Eif4e2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1307790 Eif4e2 eukaryotic translation initiation factor 4E family member 2 gene DOID:630 genetic disease ISO RGD:1348644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307791 Akirin2 akirin 2 gene DOID:630 genetic disease ISO RGD:1317188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307791 Akirin2 akirin 2 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:2306009|PMID:18460465 20110714 RGD 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348957 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:15641023|PMID:21255762|PMID:25741868|PMID:30303587 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:7240710 20130221 OMIM 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 42 PMID:15641023|PMID:21255762|PMID:24033266|PMID:25668204|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1348957 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:21255762|PMID:25741868|PMID:28492532 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1348957 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:21255762|PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30311386 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:9008681 Deafness ISO RGD:1348957 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348957 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1307792 Ildr1 immunoglobulin-like domain containing receptor 1 gene DOID:9270 alkaptonuria ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1307793 Pole4 DNA polymerase epsilon 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1317190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307794 Bag3 BAG cochaperone 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:21898660|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30615648|PMID:33658040|PMID:34426522 1307794 Bag3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28166811|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21459883|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21459883|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:0060224 atrial fibrillation ISO RGD:1317192 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21353195|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28254189|PMID:28492532|PMID:30847666 1307794 Bag3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:7240710 20130221 OMIM 1307794 Bag3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related PMID:16199547|PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25640679|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26383716|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28669108|PMID:28704380|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29247119|PMID:29338979|PMID:29382405|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32472079|PMID:32746448|PMID:32859500|PMID:33146414|PMID:33658040|PMID:33874732|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35029900|PMID:35732239|PMID:9536098 1307794 Bag3 BAG cochaperone 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1317192 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1307794 Bag3 BAG cochaperone 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:21361913|PMID:21898660|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31395899 1307794 Bag3 BAG cochaperone 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:31395899 1307794 Bag3 BAG cochaperone 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:21353195|PMID:24033266|PMID:25741868|PMID:28436997|PMID:28492532|PMID:28669108|PMID:32160020 1307794 Bag3 BAG cochaperone 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1317192 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21353195|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28669108 1307794 Bag3 BAG cochaperone 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28436997|PMID:28492532|PMID:32160020|PMID:34213952 1307794 Bag3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:7240710 20140903 OMIM 1307794 Bag3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29338979|PMID:29382405|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32746448|PMID:33146414|PMID:33658040|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35029900|PMID:9536098 1307794 Bag3 BAG cochaperone 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:11832 visual epilepsy IEP D RGD:2325847|PMID:12085992 20100611 RGD protein:increased expression:hippocampus, astrocyte 1307794 Bag3 BAG cochaperone 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572 1307794 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572|PMID:34213952 1307794 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572|PMID:34213952 1307794 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 1307794 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:26512958|PMID:27042682|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 1307794 Bag3 BAG cochaperone 3 gene DOID:1793 pancreatic cancer ISO RGD:1317192 D RGD:2325843|PMID:11513873 20100611 RGD mRNA:increased expression:pancreas 1307794 Bag3 BAG cochaperone 3 gene DOID:3068 glioblastoma treatment IMP D RGD:5687132|PMID:21561597 20180320 RGD 1307794 Bag3 BAG cochaperone 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1317192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17187345 1307794 Bag3 BAG cochaperone 3 gene DOID:574 peripheral nervous system disease ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 1307794 Bag3 BAG cochaperone 3 gene DOID:630 genetic disease ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307794 Bag3 BAG cochaperone 3 gene DOID:820 myocarditis ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28492532|PMID:34213952 1307794 Bag3 BAG cochaperone 3 gene DOID:870 neuropathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 1307794 Bag3 BAG cochaperone 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2325848|PMID:12061864 20100611 RGD protein:increased expression:hippocampus, astrocyte 1307794 Bag3 BAG cochaperone 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1317192 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:25741868|PMID:28492532 1307795 Zfyve1 zinc finger FYVE-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1317194 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1307795 Zfyve1 zinc finger FYVE-type containing 1 gene DOID:630 genetic disease ISO RGD:1317194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307796 Igsf3 immunoglobulin superfamily, member 3 gene DOID:10485 esophageal atresia ISO RGD:1317196 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1307796 Igsf3 immunoglobulin superfamily, member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:7240710 20171011 OMIM 1307796 Igsf3 immunoglobulin superfamily, member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Lacrimal duct defect PMID:24372406 1307796 Igsf3 immunoglobulin superfamily, member 3 gene DOID:2661 myoepithelioma ISO RGD:1317196 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1307796 Igsf3 immunoglobulin superfamily, member 3 gene DOID:630 genetic disease ISO RGD:1317196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307796 Igsf3 immunoglobulin superfamily, member 3 gene DOID:9008473 Lacrimal Puncta Agenesis ISO RGD:1317196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lacrimal puncta, absence of PMID:24372406 1307799 Ist1 IST1 factor associated with ESCRT-III gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1307799 Ist1 IST1 factor associated with ESCRT-III gene DOID:630 genetic disease ISO RGD:1605407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307800 Apobec3 apolipoprotein B mRNA editing enzyme catalytic subunit 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1307800 Apobec3 apolipoprotein B mRNA editing enzyme catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:1604731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307800 Apobec3 apolipoprotein B mRNA editing enzyme catalytic subunit 3 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome disease_progression ISO RGD:1317203 D RGD:40902617|PMID:23725696 20201209 RGD associated with Arterivirus Infections 1307801 Cmtr1 cap methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307802 Noxo1 NADPH oxidase organizer 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1307802 Noxo1 NADPH oxidase organizer 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1307802 Noxo1 NADPH oxidase organizer 1 gene DOID:1826 epilepsy ISO RGD:1317206 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1307802 Noxo1 NADPH oxidase organizer 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317206 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307802 Noxo1 NADPH oxidase organizer 1 gene DOID:630 genetic disease ISO RGD:1317206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307803 Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1351757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307803 Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351757 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1307803 Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1351757 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1307804 Ifit2 interferon-induced protein with tetratricopeptide repeats 2 gene DOID:0080600 COVID-19 ISO RGD:1317209 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1307804 Ifit2 interferon-induced protein with tetratricopeptide repeats 2 gene DOID:14497 Wolman disease ISO RGD:1317209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 1307804 Ifit2 interferon-induced protein with tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1317209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307804 Ifit2 interferon-induced protein with tetratricopeptide repeats 2 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1307804 Ifit2 interferon-induced protein with tetratricopeptide repeats 2 gene DOID:9001488 Human Influenza ISO RGD:1317209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1307805 Fam209 family with sequence similarity 209 gene DOID:630 genetic disease ISO RGD:1342812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307806 Upk1b uroplakin 1B gene DOID:630 genetic disease ISO RGD:1317213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307806 Upk1b uroplakin 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1317213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 1307807 Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:0111590 Cohen syndrome ISO RGD:1317214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1307807 Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:1317214 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1307807 Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1317214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307808 Efna4 ephrin A4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1307808 Efna4 ephrin A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1307808 Efna4 ephrin A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1307808 Efna4 ephrin A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1307808 Efna4 ephrin A4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317216 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307808 Efna4 ephrin A4 gene DOID:5812 MHC class II deficiency ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1307808 Efna4 ephrin A4 gene DOID:630 genetic disease ISO RGD:1317216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307808 Efna4 ephrin A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317216 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307809 Chchd5 coiled-coil-helix-coiled-coil-helix domain containing 5 gene DOID:630 genetic disease ISO RGD:1317218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307810 Itgb1bp1 integrin subunit beta 1 binding protein 1 gene DOID:0080006 bone development disease ISO RGD:1317220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 1307810 Itgb1bp1 integrin subunit beta 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307810 Itgb1bp1 integrin subunit beta 1 binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 1307811 Spc25 SPC25 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1606531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307811 Spc25 SPC25 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1606531 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307812 Supt20h SPT20 homolog, SAGA complex component gene DOID:630 genetic disease ISO RGD:1343879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307812 Supt20h SPT20 homolog, SAGA complex component gene DOID:7148 rheumatoid arthritis ISO RGD:1343879 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 1307813 Dnajc10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:14566 disease of cellular proliferation ISO RGD:1317224 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17353921 1307813 Dnajc10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:630 genetic disease ISO RGD:1317224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307813 Dnajc10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1307814 Zyg11b zyg-11 family member B, cell cycle regulator gene DOID:2907 Goldenhar syndrome ISO RGD:1606215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:25741868|PMID:32738032 1307814 Zyg11b zyg-11 family member B, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1606215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307816 Tbck TBC1 domain containing kinase gene DOID:1059 intellectual disability ISO RGD:1606987 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1307816 Tbck TBC1 domain containing kinase gene DOID:630 genetic disease ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30577886|PMID:31618753 1307816 Tbck TBC1 domain containing kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606987 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307816 Tbck TBC1 domain containing kinase gene DOID:9006056 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 ISO RGD:1606987 D RGD:7240710 20190315 OMIM 1307816 Tbck TBC1 domain containing kinase gene DOID:9006056 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy PMID:16199547|PMID:17576681|PMID:23977024|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30542205|PMID:30577886|PMID:31618753|PMID:32576985|PMID:32860008|PMID:34298581|PMID:9536098 1307816 Tbck TBC1 domain containing kinase gene DOID:9006534 Nervous System Malformations ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 1307816 Tbck TBC1 domain containing kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 1307817 Gas8 growth arrest specific 8 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1307817 Gas8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:7240710 20190315 OMIM 1307817 Gas8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26387594|PMID:27472056|PMID:28492532|PMID:9536098 1307817 Gas8 growth arrest specific 8 gene DOID:12849 autistic disorder ISO RGD:1317230 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Autism 1307817 Gas8 growth arrest specific 8 gene DOID:13636 Fanconi anemia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1307817 Gas8 growth arrest specific 8 gene DOID:630 genetic disease ISO RGD:1317230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307817 Gas8 growth arrest specific 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 1307819 Cela3b chymotrypsin like elastase 3B gene DOID:0060369 Parkinson's disease 6 ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1307819 Cela3b chymotrypsin like elastase 3B gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1317234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1307819 Cela3b chymotrypsin like elastase 3B gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1307819 Cela3b chymotrypsin like elastase 3B gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:1317234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14687815 1307819 Cela3b chymotrypsin like elastase 3B gene DOID:630 genetic disease ISO RGD:1317234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307819 Cela3b chymotrypsin like elastase 3B gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30718709|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:31630094|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:7240710 20130221 OMIM 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18098276|PMID:18394578|PMID:19805727|PMID:19917823|PMID:23733235|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:10584 retinitis pigmentosa ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:34001834 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:1059 intellectual disability ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:18394578|PMID:19805727|PMID:25741868|PMID:27544497|PMID:28492532 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:1242 globe disease ISO RGD:1317236 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:19011012|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29186038|PMID:30134391|PMID:30543658|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:31108397|PMID:6944241|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29246610|PMID:31108397|PMID:6944241|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:4448 macular degeneration ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32790509|PMID:34001834 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:607 paraplegia ISO RGD:1317236 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18394578|PMID:18414213|PMID:19084844|PMID:19763152|PMID:19805727|PMID:19917823|PMID:20307669|PMID:21462267|PMID:22406018|PMID:24030950|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:630 genetic disease ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24030950|PMID:24833714|PMID:25741868|PMID:26467025|PMID:28492532 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:8501 fundus dystrophy ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:18779497|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24625443|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30979730|PMID:31456290|PMID:32141364|PMID:9536098 1307820 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:9008296 Eye Abnormalities ISO RGD:1317236 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 1307821 Mob3c MOB kinase activator 3C gene DOID:630 genetic disease ISO RGD:1317238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307822 Pdilt protein disulfide isomerase-like, testis expressed gene DOID:630 genetic disease ISO RGD:1602970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307823 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1317241 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism 1307823 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1317241 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome 1307823 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:7240710 20180124 OMIM 1307823 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 PMID:11156534|PMID:16199547|PMID:17576681|PMID:21944046|PMID:22077971|PMID:24033266|PMID:25477904|PMID:25640679|PMID:25741868|PMID:25758857|PMID:25918518|PMID:28161430|PMID:28470589|PMID:28492532|PMID:28803783|PMID:29441221|PMID:31461310|PMID:31970900|PMID:9536098 1307823 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:630 genetic disease ISO RGD:1317241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307824 Polr1f RNA polymerase I subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317243 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307825 Kif13a kinesin family member 13A gene DOID:630 genetic disease ISO RGD:1317245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0050562 West syndrome ISO RGD:1317247 D RGD:8554872 20180605 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28255779|PMID:28492532|PMID:9536098 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:31589614|PMID:9536098 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0050729 neutral lipid storage disease ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:7240710 20130221 OMIM 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 PMID:15592994|PMID:18414213|PMID:19780765|PMID:24596948|PMID:25033742|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31589614 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317247 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317247 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:31589614|PMID:9536098 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:10283 prostate cancer ISO RGD:1317247 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317247 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:308 early myoclonic encephalopathy ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:15592994|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28454995|PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:630 genetic disease ISO RGD:1317247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:9536098 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:9003816 Macrocephaly ISO RGD:1317247 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317247 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1307826 Slc25a22 solute carrier family 25 member 22 gene DOID:9008086 Developmental Disabilities ISO RGD:1317247 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 1307827 Nup133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 1307827 Nup133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 18 PMID:25741868|PMID:28492532|PMID:30179222 1307827 Nup133 nucleoporin 133 gene DOID:1540 parathyroid carcinoma ISO RGD:1317249 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307827 Nup133 nucleoporin 133 gene DOID:1826 epilepsy ISO RGD:1317249 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307827 Nup133 nucleoporin 133 gene DOID:630 genetic disease ISO RGD:1317249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307827 Nup133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 1307827 Nup133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 PMID:11793129|PMID:25741868|PMID:28492532|PMID:30427554 1307827 Nup133 nucleoporin 133 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1317249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1307827 Nup133 nucleoporin 133 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317249 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:0050729 neutral lipid storage disease ISO RGD:1317251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:0080600 COVID-19 ISO RGD:1317251 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1307828 Irf7 interferon regulatory factor 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1307828 Irf7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:7240710 20170503 OMIM 1307828 Irf7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25814066|PMID:28492532|PMID:31172279|PMID:9536098 1307828 Irf7 interferon regulatory factor 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1317252 D RGD:124715479|PMID:24760883 20210326 RGD 1307828 Irf7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1317252 D RGD:124715479|PMID:24760883 20210326 RGD 1307828 Irf7 interferon regulatory factor 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317251 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:630 genetic disease ISO RGD:1317251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:9001488 Human Influenza ISO RGD:1317251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1307828 Irf7 interferon regulatory factor 7 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317251 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1307828 Irf7 interferon regulatory factor 7 gene DOID:9005372 Inflammation ISO RGD:1317251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20513754 1307829 Rnase12 ribonuclease A family member 12 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1307829 Rnase12 ribonuclease A family member 12 gene DOID:630 genetic disease ISO RGD:1353641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307830 Odr4 odr-4 GPCR localization factor homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307830 Odr4 odr-4 GPCR localization factor homolog gene DOID:630 genetic disease ISO RGD:1346906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307830 Odr4 odr-4 GPCR localization factor homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346906 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307832 Nelfb negative elongation factor complex member B gene DOID:0050777 Joubert syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307832 Nelfb negative elongation factor complex member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1307832 Nelfb negative elongation factor complex member B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1307832 Nelfb negative elongation factor complex member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1307832 Nelfb negative elongation factor complex member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1307832 Nelfb negative elongation factor complex member B gene DOID:0081097 Rafiq syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1307832 Nelfb negative elongation factor complex member B gene DOID:1826 epilepsy ISO RGD:1603677 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1307832 Nelfb negative elongation factor complex member B gene DOID:630 genetic disease ISO RGD:1603677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307832 Nelfb negative elongation factor complex member B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1307833 Nrsn1 neurensin 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1307833 Nrsn1 neurensin 1 gene DOID:630 genetic disease ISO RGD:1317257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307835 Wsb1 WD repeat and SOCS box-containing 1 gene DOID:630 genetic disease ISO RGD:1317261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307836 Zfp212 Zinc finger protein 212 gene DOID:630 genetic disease ISO RGD:1317263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307840 Pkp4 plakophilin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1307840 Pkp4 plakophilin 4 gene DOID:630 genetic disease ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307841 Mfap4 microfibril associated protein 4 gene DOID:0050777 Joubert syndrome ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1307841 Mfap4 microfibril associated protein 4 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1317270 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1307841 Mfap4 microfibril associated protein 4 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1307841 Mfap4 microfibril associated protein 4 gene DOID:12849 autistic disorder ISO RGD:1317270 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307841 Mfap4 microfibril associated protein 4 gene DOID:630 genetic disease ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307841 Mfap4 microfibril associated protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307841 Mfap4 microfibril associated protein 4 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1307842 Prcp prolylcarboxypeptidase gene DOID:1059 intellectual disability ISO RGD:1317272 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307842 Prcp prolylcarboxypeptidase gene DOID:630 genetic disease ISO RGD:1317272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:12712 nephronophthisis ISO RGD:1317273 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:8693412|PMID:19350281 20140715 RGD 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:2717 Bloom syndrome ISO RGD:1317273 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:37 skin disease ISO RGD:1317273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:630 genetic disease ISO RGD:1317273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:9000998 Brain Injuries IEP D RGD:8693413|PMID:21545521 20140715 RGD protein:decreased expression:brain, nucleus 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1307843 Pias1 protein inhibitor of activated STAT, 1 gene DOID:9256 colorectal cancer ISO RGD:1317273 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307844 Trak1 trafficking kinesin protein 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1307844 Trak1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:7240710 20190315 OMIM 1307844 Trak1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 PMID:25741868|PMID:28364549|PMID:28492532|PMID:28940097|PMID:29846532 1307844 Trak1 trafficking kinesin protein 1 gene DOID:13366 Stiff-Person syndrome ISS RGD:1317275 D RGD:13592920 20180518 MouseDO OMIM:184850 1307844 Trak1 trafficking kinesin protein 1 gene DOID:5419 schizophrenia ISO RGD:1604830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1307844 Trak1 trafficking kinesin protein 1 gene DOID:630 genetic disease ISO RGD:1604830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307845 Fam8a1 family with sequence similarity 8, member A1 gene DOID:630 genetic disease ISO RGD:1351875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307846 Ldlrad3 low density lipoprotein receptor class A domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1605868 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307846 Ldlrad3 low density lipoprotein receptor class A domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1605868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1307846 Ldlrad3 low density lipoprotein receptor class A domain containing 3 gene DOID:630 genetic disease ISO RGD:1605868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307847 Il36b interleukin 36, beta gene DOID:289 endometriosis ISO RGD:1317278 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 1307847 Il36b interleukin 36, beta gene DOID:630 genetic disease ISO RGD:1317278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307847 Il36b interleukin 36, beta gene DOID:9002189 High Myopia ISO RGD:1317278 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1307848 Usp33 ubiquitin specific peptidase 33 gene DOID:630 genetic disease ISO RGD:1317280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307849 Zfp395 zinc finger protein 395 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1307849 Zfp395 zinc finger protein 395 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1307849 Zfp395 zinc finger protein 395 gene DOID:630 genetic disease ISO RGD:1317282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307850 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1307850 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:4621 holoprosencephaly ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307850 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:630 genetic disease ISO RGD:1317284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307851 FAM187A family with sequence similarity 187, member A gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:6482918 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 1307851 FAM187A family with sequence similarity 187, member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:6482918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 1307852 Gpr87 G protein-coupled receptor 87 gene DOID:0050579 glycogen storage disease XV ISO RGD:1317287 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1307852 Gpr87 G protein-coupled receptor 87 gene DOID:630 genetic disease ISO RGD:1317287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307853 Pm20d2 peptidase M20 domain containing 2 gene DOID:630 genetic disease ISO RGD:1317289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605688 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1605688 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1605688 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1605688 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111934 immunodeficiency 38 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111935 immunodeficiency 16 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605688 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605688 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1605688 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1307854 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1317292 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868|PMID:28492532 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:8872480|PMID:9536098 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9536098 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:7240710 20130221 OMIM 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D PMID:10732809|PMID:12690580|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:24604904|PMID:25168514|PMID:25326637|PMID:25476837|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26633545|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:31173493|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9879677 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1317292 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:17101916|PMID:20301420|PMID:22462675|PMID:25168514 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1317292 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317292 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 PMID:25741868|PMID:28492532 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317292 D RGD:7240710 20131030 OMIM 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26503042|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31628756|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:8541851|PMID:9879677 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:31827005|PMID:31832804|PMID:31985473 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26467025|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:231 motor neuron disease ISO RGD:1317292 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Motor neuron disease 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317292 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:19329989|PMID:20301420|PMID:24078732|PMID:24627108|PMID:25168514|PMID:25614874|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26752306|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28675565|PMID:29858556|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:32403337 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:7319 axonal neuropathy ISO RGD:1317292 D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:7240710 20201021 OMIM 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type PMID:17101916|PMID:20301420|PMID:22462675|PMID:24604904|PMID:25168514|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31985473|PMID:32181591 1307856 Gars1 glycyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pes cavus 1307857 Rnf121 ring finger protein 121 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1317294 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 1307857 Rnf121 ring finger protein 121 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1317294 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1307857 Rnf121 ring finger protein 121 gene DOID:1059 intellectual disability ISO RGD:1317294 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307857 Rnf121 ring finger protein 121 gene DOID:630 genetic disease ISO RGD:1317294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307858 Trim29 tripartite motif-containing 29 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:0080690 RASopathy ISO RGD:1317296 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:0111971 immunodeficiency 18 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:0111972 immunodeficiency 19 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:0111973 immunodeficiency 17 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1307858 Trim29 tripartite motif-containing 29 gene DOID:3070 high grade glioma ISO RGD:1317296 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30929997 1307858 Trim29 tripartite motif-containing 29 gene DOID:5419 schizophrenia ISO RGD:1317296 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307858 Trim29 tripartite motif-containing 29 gene DOID:630 genetic disease ISO RGD:1317296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307858 Trim29 tripartite motif-containing 29 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317296 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1307858 Trim29 tripartite motif-containing 29 gene DOID:9007661 Dwarfism ISO RGD:1317296 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1307859 Fbxw12 F-box and WD repeat domain containing 12 gene DOID:630 genetic disease ISO RGD:1352427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307859 Fbxw12 F-box and WD repeat domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1307861 Exosc5 exosome component 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1307861 Exosc5 exosome component 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1307861 Exosc5 exosome component 5 gene DOID:2340 craniosynostosis ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1307861 Exosc5 exosome component 5 gene DOID:630 genetic disease ISO RGD:1317301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307861 Exosc5 exosome component 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1317301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1307861 Exosc5 exosome component 5 gene DOID:9000918 Disease Progression ISO RGD:1317301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1307861 Exosc5 exosome component 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1307861 Exosc5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:7240710 20211208 OMIM 1307861 Exosc5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229 1307861 Exosc5 exosome component 5 gene DOID:9269 maple syrup urine disease ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1307862 Ankrd22 ankyrin repeat domain 22 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1317302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 1307862 Ankrd22 ankyrin repeat domain 22 gene DOID:630 genetic disease ISO RGD:1317302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307862 Ankrd22 ankyrin repeat domain 22 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:7240710 20130221 OMIM 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES PMID:11424136|PMID:16045708|PMID:18304158|PMID:18348262|PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:28499588|PMID:30450527|PMID:32860008|PMID:33125268 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:7240710 20140911 OMIM 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE BARSY SYNDROME B PMID:16233902|PMID:18348262|PMID:19648921|PMID:21567914|PMID:22052856|PMID:23406396|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30138938|PMID:30450527|PMID:4076251 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1317303 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16199547|PMID:16233902|PMID:18348262|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527|PMID:32860008|PMID:4076251 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:10907 microcephaly ISO RGD:1317303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648921 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3911 progeria ISO RGD:1317303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648921 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:630 genetic disease ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268|PMID:4076251 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307863 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1317303 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 1307864 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:7240710 20200520 OMIM 1307864 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 PMID:25741868|PMID:30283131 1307864 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:630 genetic disease ISO RGD:1317305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307864 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1317305 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317307 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:10283 prostate cancer ISO RGD:1317307 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:2043 hepatitis B ISO RGD:1317307 D RGD:151665185|PMID:25151370 20220315 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1317307 D RGD:151665184|PMID:32537022 20220315 RGD mRNA:increased expression:lung (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317307 D RGD:151665187|PMID:31711559 20220315 RGD mRNA:increased expression:lung (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:4927 Klatskin's tumor ISO RGD:1317307 D RGD:126848756|PMID:33387086 20210428 RGD DNA:substitutions, insertion/deletions: (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220310 RGD DNA:substitutions, insertion/deletions: (human) PMID:33387086|REF_RGD_ID:126848756 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:4947 cholangiocarcinoma sexual_dimorphism ISO RGD:1317307 D RGD:151665188|PMID:28000796 20220315 RGD DNA:substitutions, insertion/deletions: (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317307 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:630 genetic disease ISO RGD:1317307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:151665188|PMID:28000796 20220315 RGD mRNA:decreased expression:liver (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:151665343|PMID:31776854 20220322 RGD mRNA:increased expression:liver (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:151665185|PMID:25151370 20220315 RGD mRNA:increased expression:liver (human) 1307865 Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:151665186|PMID:28205209 20220315 RGD protein:increased expression:liver (human) 1307867 Dph5 diphthamide biosynthesis 5 gene DOID:1826 epilepsy ISO RGD:1602122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307867 Dph5 diphthamide biosynthesis 5 gene DOID:630 genetic disease ISO RGD:1602122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307867 Dph5 diphthamide biosynthesis 5 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1602122 D RGD:7240710 20221109 OMIM 1307867 Dph5 diphthamide biosynthesis 5 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1602122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 1307867 Dph5 diphthamide biosynthesis 5 gene DOID:9269 maple syrup urine disease ISO RGD:1602122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1307868 Gas2l2 growth arrest-specific 2 like 2 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1307868 Gas2l2 growth arrest-specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:7240710 20190626 OMIM 1307868 Gas2l2 growth arrest-specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 PMID:25741868|PMID:30665704 1307868 Gas2l2 growth arrest-specific 2 like 2 gene DOID:630 genetic disease ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1307868 Gas2l2 growth arrest-specific 2 like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30665704 1307868 Gas2l2 growth arrest-specific 2 like 2 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1614148 D RGD:13592920 20190829 MouseDO 1307869 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1307869 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1307869 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317312 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1307869 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317312 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1307869 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1307869 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:630 genetic disease ISO RGD:1317312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307870 Fbxo36 F-box protein 36 gene DOID:630 genetic disease ISO RGD:1317314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307871 Mgat4c MGAT4 family, member C gene DOID:630 genetic disease ISO RGD:1604033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307872 Sema4b semaphorin 4B gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1307872 Sema4b semaphorin 4B gene DOID:2717 Bloom syndrome ISO RGD:1317317 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307872 Sema4b semaphorin 4B gene DOID:630 genetic disease ISO RGD:1317317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307872 Sema4b semaphorin 4B gene DOID:9256 colorectal cancer ISO RGD:1317317 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307873 Slc30a7 solute carrier family 30 member 7 gene DOID:1826 epilepsy ISO RGD:1317319 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307873 Slc30a7 solute carrier family 30 member 7 gene DOID:630 genetic disease ISO RGD:1317319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307873 Slc30a7 solute carrier family 30 member 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1317319 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 1307873 Slc30a7 solute carrier family 30 member 7 gene DOID:9008919 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties ISO RGD:1317319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 1307873 Slc30a7 solute carrier family 30 member 7 gene DOID:9269 maple syrup urine disease ISO RGD:1317319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1307874 Mdh1b malate dehydrogenase 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1307874 Mdh1b malate dehydrogenase 1B gene DOID:630 genetic disease ISO RGD:1317321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307874 Mdh1b malate dehydrogenase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317321 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307875 Micall2 MICAL-like 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605936 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 1307875 Micall2 MICAL-like 2 gene DOID:630 genetic disease ISO RGD:1605936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307876 Lactb2 lactamase, beta 2 gene DOID:630 genetic disease ISO RGD:1317324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307877 Prss54 serine protease 54 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307877 Prss54 serine protease 54 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307877 Prss54 serine protease 54 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:3438752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1307877 Prss54 serine protease 54 gene DOID:630 genetic disease ISO RGD:3438752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0060163 body dysmorphic disorder ISO RGD:1317328 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:7240710 20190315 OMIM 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES PMID:16199547|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:31656175|PMID:32485575 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:7240710 20190315 OMIM 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:16199547|PMID:17576681|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:30348779|PMID:31273557|PMID:9536098 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1059 intellectual disability ISO RGD:1317328 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10603 glucose intolerance ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: therapeutic PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10907 microcephaly ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130|PMID:25741868 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:12849 autistic disorder ISO RGD:1317328 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1317328 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1909 melanoma ISO RGD:1317328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:4195 hyperglycemia ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: therapeutic PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317328 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25066056|PMID:25741868|PMID:28492532 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1317328 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9000495 Tremor ISO RGD:1317328 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9004657 Weight Gain ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9006205 Animal Disease Models ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: therapeutic PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: therapeutic PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:30718926|PMID:33812996 1307879 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9452 fatty liver disease ISO RGD:1317328 D RGD:11554173 20211109 CTD CTD Direct Evidence: therapeutic PMID:33812996 1307880 B4galt4 beta-1,4-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1317330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307880 B4galt4 beta-1,4-galactosyltransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1307881 Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:630 genetic disease ISO RGD:1317332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307881 Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1317332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1307881 Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000918 Disease Progression ISO RGD:1317332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1307882 U2surp U2 snRNP-associated SURP domain containing gene DOID:630 genetic disease ISO RGD:4892414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307882 U2surp U2 snRNP-associated SURP domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:4892414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307883 Fastkd2 FAST kinase domains 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1307883 Fastkd2 FAST kinase domains 2 gene DOID:3652 Leigh disease ISO RGD:1317335 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:31944455 1307883 Fastkd2 FAST kinase domains 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18771761|PMID:25326635|PMID:25497598|PMID:25741868|PMID:25842391|PMID:28492532 1307883 Fastkd2 FAST kinase domains 2 gene DOID:630 genetic disease ISO RGD:1317335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307883 Fastkd2 FAST kinase domains 2 gene DOID:9002715 Combined Oxidative Phosphorylation Deficiency 44 ISO RGD:1317335 D RGD:7240710 20200520 OMIM 1307883 Fastkd2 FAST kinase domains 2 gene DOID:9002715 Combined Oxidative Phosphorylation Deficiency 44 ISO RGD:1317335 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 PMID:18771761|PMID:25741868|PMID:28492532|PMID:28499982|PMID:31944455 1307883 Fastkd2 FAST kinase domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317335 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307884 Twnk twinkle mtDNA helicase gene DOID:0050823 third-degree atrioventricular block ISO RGD:1317337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 1307884 Twnk twinkle mtDNA helicase gene DOID:0050857 Perrault syndrome ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32281099|PMID:32619254|PMID:33095980 1307884 Twnk twinkle mtDNA helicase gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980 1307884 Twnk twinkle mtDNA helicase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 1307884 Twnk twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:7240710 20130221 OMIM 1307884 Twnk twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:11431692|PMID:12707443|PMID:12872260|PMID:16135556|PMID:17614277|PMID:17722119|PMID:17921179|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20479361|PMID:20659899|PMID:21689831|PMID:22353293|PMID:22928142|PMID:24018892|PMID:24086434|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28776642|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32619254|PMID:33095980 1307884 Twnk twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1307884 Twnk twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:27551684|PMID:28492532|PMID:29458409 1307884 Twnk twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980 1307884 Twnk twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:7240710 20150812 OMIM 1307884 Twnk twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PMID:10522883|PMID:11431692|PMID:12163192|PMID:12707443|PMID:12872260|PMID:15668446|PMID:1634620|PMID:17614277|PMID:18575922|PMID:18973250|PMID:19084593|PMID:19353676|PMID:19428252|PMID:19513767|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24014582|PMID:24018892|PMID:24076137|PMID:24086434|PMID:25133958|PMID:25355836|PMID:25741868|PMID:25989649|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30799093|PMID:31271879|PMID:31852434|PMID:32619254|PMID:33095980|PMID:34409151 1307884 Twnk twinkle mtDNA helicase gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431692|PMID:18575922|PMID:18971204|PMID:20659899|PMID:25741868|PMID:28492532 1307884 Twnk twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153 1307884 Twnk twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia susceptibility ISO RGD:1317337 D RGD:1600544|PMID:11431692 20070313 RGD DNA:mutations 1307884 Twnk twinkle mtDNA helicase gene DOID:14330 Parkinson's disease ISS RGD:1317338 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 1307884 Twnk twinkle mtDNA helicase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21689831|PMID:25741868|PMID:26467025|PMID:28492532 1307884 Twnk twinkle mtDNA helicase gene DOID:700 mitochondrial metabolism disease ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11431692|PMID:12707443|PMID:12872260|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:18973250|PMID:19084593|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:24076137|PMID:24086434|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:30496414|PMID:32161153 1307884 Twnk twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:7240710 20150311 OMIM 1307884 Twnk twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 5 PMID:25355836|PMID:25741868|PMID:28492532|PMID:29302074|PMID:31823625|PMID:32281099|PMID:32619254|PMID:33095980 1307884 Twnk twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8694093|PMID:22743328 20140724 RGD mRNA,protein:decreased expression:retina,mitochondrion: 1307884 Twnk twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317338 D RGD:8694187|PMID:22229649 20140728 RGD mRNA,protein:decreased expression:retina,mitochondrion: 1307884 Twnk twinkle mtDNA helicase gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12707443|PMID:12872260|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20659899|PMID:24086434|PMID:25741868|PMID:28492532|PMID:28812649|PMID:30496414 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317339 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:2513 basal cell carcinoma ISO RGD:1317339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:630 genetic disease ISO RGD:1317339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:769 neuroblastoma ISO RGD:1317339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:9002801 Recurrence ISO RGD:1317339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:7240710 20130221 OMIM 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choanal atresia and lymphedema PMID:20826270|PMID:25741868 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317339 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1307885 Ptpn14 protein tyrosine phosphatase, non-receptor type 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317339 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307887 Patl2 PAT1 homolog 2 gene DOID:0050712 AGAT deficiency ISO RGD:2303478 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1307887 Patl2 PAT1 homolog 2 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:2303478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:19105190|PMID:20110243|PMID:22154821|PMID:26556829|PMID:28492532 1307887 Patl2 PAT1 homolog 2 gene DOID:1100 ovarian disease ISS RGD:1317343 D RGD:13592920 20181011 MouseDO 1307887 Patl2 PAT1 homolog 2 gene DOID:2717 Bloom syndrome ISO RGD:2303478 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307887 Patl2 PAT1 homolog 2 gene DOID:630 genetic disease ISO RGD:2303478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307887 Patl2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:7240710 20190315 OMIM 1307887 Patl2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 4 PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:35091966 1307887 Patl2 PAT1 homolog 2 gene DOID:9008845 Oocyte Maturation Defect 2 ISO RGD:2303478 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 2 PMID:24033266|PMID:25741868|PMID:28965844|PMID:29661911|PMID:32552793 1307887 Patl2 PAT1 homolog 2 gene DOID:9256 colorectal cancer ISO RGD:2303478 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307888 Exosc9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:7240710 20190315 OMIM 1307888 Exosc9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D PMID:25741868|PMID:28492532|PMID:29727687|PMID:30125339|PMID:30690203|PMID:33040083|PMID:34782754 1307888 Exosc9 exosome component 9 gene DOID:630 genetic disease ISO RGD:1317344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307888 Exosc9 exosome component 9 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1317344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1307888 Exosc9 exosome component 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317344 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307889 Mynn myoneurin gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1317346 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 1307889 Mynn myoneurin gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1307889 Mynn myoneurin gene DOID:1062 Fanconi syndrome ISO RGD:1317346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1307889 Mynn myoneurin gene DOID:630 genetic disease ISO RGD:1317346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307890 Trmt1l tRNA methyltransferase 1-like gene DOID:11372 megacolon ISO RGD:1317348 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1307890 Trmt1l tRNA methyltransferase 1-like gene DOID:1540 parathyroid carcinoma ISO RGD:1317348 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307890 Trmt1l tRNA methyltransferase 1-like gene DOID:630 genetic disease ISO RGD:1317348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307890 Trmt1l tRNA methyltransferase 1-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317348 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:1599139|PMID:17006986 20200326 RGD mRNA:increased expression:liver (rat) 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1317349 D RGD:25440492|PMID:19422483 20200420 RGD mRNA:increased expression:liver (human) 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1317349 D RGD:24922200|PMID:25345946 20200326 RGD DNA:missense mutation:cds: (human) 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1317350 D RGD:24922201|PMID:29569260 20200326 RGD mRNA, protein:decreased expression:serum, liver (mouse) 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:25330097|PMID:26770322 20200407 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:25824941|PMID:25536648 20200506 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1317350 D RGD:25330094|PMID:19763702 20200407 RGD associated with obesity;protein:decreased expression:liver (mouse) 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility IEP D RGD:21076282|PMID:20606728 20200313 RGD mRNA:decreased expression:liver (rat) 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:25440494|PMID:20965162 20200420 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:25824942|PMID:30131158 20200506 RGD associated with obesity 1307891 Adipor2 adiponectin receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1317350 D RGD:25330095|PMID:18666257 20200407 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:10603 glucose intolerance treatment IEP D RGD:25330096|PMID:23797890 20200407 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:1317349 D RGD:8694417|PMID:19723917 20140805 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:2018 hyperinsulinism IEP D RGD:1625765|PMID:16326833 20070629 RGD mRNA:increased expression:skeletal muscle cell 1307891 Adipor2 adiponectin receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1317350 D RGD:1599139|PMID:17006986 20200326 RGD mRNA:decreased expression:liver (mouse) 1307891 Adipor2 adiponectin receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1317350 D RGD:1625764|PMID:16415076 20070629 RGD mRNA, protein:decreased expression:heart left ventricle 1307891 Adipor2 adiponectin receptor 2 gene DOID:783 end stage renal disease IEP D RGD:8695941|PMID:24028144 20140806 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment IEP D RGD:25824940|PMID:24797033 20200506 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:1317350 D RGD:24922203|PMID:29237572 20200326 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:8695947|PMID:23533720 20140806 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2312478|PMID:19220660 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317350 D RGD:2312488|PMID:18222103 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association IDA D RGD:2312495|PMID:17884446 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9005930 Endotoxemia severity IEP D RGD:8695926|PMID:23838384 20200420 RGD associated with obesity;mRNA:decreased expression:liver (rat) 1307891 Adipor2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment IEP D RGD:25330099|PMID:26115886 20200407 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1317350 D RGD:25440493|PMID:22013387 20200420 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1317350 D RGD:25824939|PMID:27220557 20200506 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1317350 D RGD:25824943|PMID:18755807 20200506 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity IEP D RGD:8695926|PMID:23838384 20200420 RGD associated with obesity, LPS;mRNA:decreased expression:liver (rat) 1307891 Adipor2 adiponectin receptor 2 gene DOID:9007456 Female Infertility ISO RGD:1317349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 1307891 Adipor2 adiponectin receptor 2 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:21406435|PMID:30225267 20200313 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:25824940|PMID:24797033 20200506 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317349 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307891 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:2312480|PMID:18548168 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:2312486|PMID:18363889 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:2312490|PMID:18075289 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1317349 D RGD:2312476|PMID:19631916 20090819 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9452 fatty liver disease treatment IEP D RGD:21406435|PMID:30225267 20200313 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9452 fatty liver disease treatment IEP D RGD:2307264|PMID:19076162 20200326 RGD associated with Diabetes Mellitus, Experimental 1307891 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity IEP D RGD:1625763|PMID:16483885 20070629 RGD mRNA:increased expression:liver 1307891 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity severity IEP D RGD:8695926|PMID:23838384 20200420 RGD mRNA:decreased expression:liver (rat) 1307891 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity treatment IEP D RGD:21406435|PMID:30225267 20200313 RGD 1307891 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity treatment IEP D RGD:25824942|PMID:30131158 20200506 RGD associated with non-alcoholic fatty liver disease 1307892 Lypd2 Ly6/Plaur domain containing 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1307892 Lypd2 Ly6/Plaur domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1352251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307892 Lypd2 Ly6/Plaur domain containing 2 gene DOID:630 genetic disease ISO RGD:1352251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307893 Tapbpl TAP binding protein-like gene DOID:0050772 spastic ataxia 1 ISO RGD:1317352 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 1307893 Tapbpl TAP binding protein-like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1307893 Tapbpl TAP binding protein-like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317352 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1307893 Tapbpl TAP binding protein-like gene DOID:0111621 Temtamy syndrome ISO RGD:1317352 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1307893 Tapbpl TAP binding protein-like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1317352 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 1307893 Tapbpl TAP binding protein-like gene DOID:607 paraplegia ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 1307893 Tapbpl TAP binding protein-like gene DOID:630 genetic disease ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307893 Tapbpl TAP binding protein-like gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:1317352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 1307893 Tapbpl TAP binding protein-like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317352 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1307893 Tapbpl TAP binding protein-like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317352 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307895 Wee1 WEE1 G2 checkpoint kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317355 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 1307895 Wee1 WEE1 G2 checkpoint kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317355 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 1307895 Wee1 WEE1 G2 checkpoint kinase gene DOID:630 genetic disease ISO RGD:1317355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307896 Clptm1l CLPTM1-like gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:150530487|PMID:28025427 20211213 RGD DNA:SNP: :rs402710(human) 1307896 Clptm1l CLPTM1-like gene DOID:0050921 pharynx squamous cell carcinoma sexual_dimorphism ISO RGD:1605932 D RGD:150530637|PMID:31429604 20211220 RGD in males;DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1307896 Clptm1l CLPTM1-like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307896 Clptm1l CLPTM1-like gene DOID:1037 lymphoid leukemia ISO RGD:1605932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 1307896 Clptm1l CLPTM1-like gene DOID:11054 urinary bladder cancer ISO RGD:1605932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer ISO RGD:1317357 D RGD:150530483|PMID:24366883 20211213 RGD 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD PMID:27062701|REF_RGD_ID:150537097 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1605932 D RGD:150530643|PMID:21771723 20211220 RGD in males;DNA:SNP: :rs370348(human) 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:150530484|PMID:26852039 20211213 RGD DNA:SNPs::multiple (human) 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:150530494|PMID:25526467 20211214 RGD DNA:SNPs:: rs402710,rs451360 (human) 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:150530631|PMID:25422207 20211220 RGD DNA:SNP:intron:rs31489(human) 1307896 Clptm1l CLPTM1-like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:150530642|PMID:21622582 20211220 RGD associated with smoking; DNA:SNP:intron:rs31489(human) 1307896 Clptm1l CLPTM1-like gene DOID:2513 basal cell carcinoma ISO RGD:1605932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 1307896 Clptm1l CLPTM1-like gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605932 D RGD:150530497|PMID:25480402 20211214 RGD mRNA:increased expression:esophagus 1307896 Clptm1l CLPTM1-like gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1605932 D RGD:150537098|PMID:24386361 20211222 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:11572962|PMID:26716642 20211213 RGD DNA:SNP: :rs451360(human) 1307896 Clptm1l CLPTM1-like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:150530488|PMID:25007268 20211213 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605932 D RGD:150530483|PMID:24366883 20211213 RGD mRNA:increased expression:lung 1307896 Clptm1l CLPTM1-like gene DOID:3907 lung squamous cell carcinoma no_association ISO RGD:1605932 D RGD:150530499|PMID:24861918 20211214 RGD DNA:SNP::rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:150530498|PMID:23908149 20211214 RGD DNA:SNP:: rs31490(human) 1307896 Clptm1l CLPTM1-like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:150537098|PMID:24386361 20211222 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 1307896 Clptm1l CLPTM1-like gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605932 D RGD:150530644|PMID:24679952 20211220 RGD DNA:SNPs: :rs4975616,rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:150530500|PMID:24175795 20211214 RGD DNA:SNPs:: rs401681,rs4975616(human) 1307896 Clptm1l CLPTM1-like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:150530632|PMID:27982019 20211220 RGD DNA:SNP: :rs31490(human) 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:150530483|PMID:24366883 20211213 RGD mRNA:increased expression:lung 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605932 D RGD:150530483|PMID:24366883 20211213 RGD 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma no_association ISO RGD:1605932 D RGD:150530499|PMID:24861918 20211214 RGD DNA:SNP::rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:150530485|PMID:23738012 20211213 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:150530498|PMID:23908149 20211214 RGD DNA:SNP:: rs31490(human) 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:150530502|PMID:19955392 20211214 RGD DNA:SNP:: rs4975616(human) 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:150530635|PMID:31935503 20211220 RGD DNA:SNP::rs77518573(human) 1307896 Clptm1l CLPTM1-like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:150537098|PMID:24386361 20211222 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1605932 D RGD:150530629|PMID:29450669 20211216 RGD DNA:SNP, haplotype: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:630 genetic disease ISO RGD:1605932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307896 Clptm1l CLPTM1-like gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605932 D RGD:150537100|PMID:29042796 20211222 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605932 D RGD:150530496|PMID:25339005 20211214 RGD DNA:SNPs::rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605932 D RGD:150530497|PMID:25480402 20211214 RGD associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus 1307896 Clptm1l CLPTM1-like gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 1307896 Clptm1l CLPTM1-like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 1307896 Clptm1l CLPTM1-like gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1605932 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1307896 Clptm1l CLPTM1-like gene DOID:9005172 Lung Neoplasms ISO RGD:1605932 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883 1307896 Clptm1l CLPTM1-like gene DOID:9007364 Mouth Neoplasms ISO RGD:1605932 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 1307896 Clptm1l CLPTM1-like gene DOID:9261 nasopharynx carcinoma ISO RGD:1605932 D RGD:11564613|PMID:26621837 20211213 RGD protein:increased expression:nasopharynx 1307896 Clptm1l CLPTM1-like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:11556976|PMID:26545403 20211220 RGD DNA:SNP:intron:rs31489(human) 1307896 Clptm1l CLPTM1-like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:11564613|PMID:26621837 20211213 RGD DNA:SNP: :rs401681(human) 1307896 Clptm1l CLPTM1-like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:150537099|PMID:31270100 20211222 RGD DNA:SNP:intron:rs31489(human) 1307896 Clptm1l CLPTM1-like gene DOID:9675 pulmonary emphysema severity ISO RGD:1605932 D RGD:150530642|PMID:21622582 20211220 RGD associated with smoking; DNA:SNP:intron:rs31489(human) 1307897 Fancm FA complementation group M gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317358 D RGD:11049143|PMID:17409780 20160707 RGD 1307897 Fancm FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:7240710 20200101 OMIM 1307897 Fancm FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 15 PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:28492532|PMID:29231814|PMID:30075111|PMID:31700994 1307897 Fancm FA complementation group M gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28881617|PMID:29231814|PMID:29351780|PMID:30075111|PMID:31700994|PMID:33471991 1307897 Fancm FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:7240710 20190315 OMIM 1307897 Fancm FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 28 PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30158692|PMID:30426508|PMID:30995915|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:33471991|PMID:34174131|PMID:9536098 1307897 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16116422 1307897 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26067930|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30676620|PMID:30995915|PMID:31700994|PMID:31991861|PMID:32566746|PMID:9536098 1307897 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:33471991|PMID:34174131|PMID:9536098 1307897 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131|PMID:9536098 1307897 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098 1307897 Fancm FA complementation group M gene DOID:14227 azoospermia ISO RGD:1317358 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 1307897 Fancm FA complementation group M gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1317358 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 1307897 Fancm FA complementation group M gene DOID:3883 Lynch syndrome ISO RGD:1317358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:30075111 1307897 Fancm FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 1307897 Fancm FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:31428572|PMID:32566746|PMID:33471991|PMID:9536098 1307897 Fancm FA complementation group M gene DOID:630 genetic disease ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746|PMID:33471991 1307897 Fancm FA complementation group M gene DOID:687 hepatoblastoma ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 1307897 Fancm FA complementation group M gene DOID:768 retinoblastoma ISO RGD:1317358 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868 1307897 Fancm FA complementation group M gene DOID:9002912 Fanconi Anemia Complementation Group M ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group M PMID:16116422|PMID:19423727|PMID:19737859|PMID:25741868|PMID:28492532|PMID:33471991 1307897 Fancm FA complementation group M gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1307897 Fancm FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 1307897 Fancm FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 1307897 Fancm FA complementation group M gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26130695|PMID:28492532|PMID:28702895|PMID:28837162|PMID:29231814|PMID:30075111|PMID:31700994 1307898 Snx33 sorting nexin 33 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1603528 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 1307898 Snx33 sorting nexin 33 gene DOID:1826 epilepsy ISO RGD:1603528 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1307898 Snx33 sorting nexin 33 gene DOID:2717 Bloom syndrome ISO RGD:1603528 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307898 Snx33 sorting nexin 33 gene DOID:5419 schizophrenia ISO RGD:1603528 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307898 Snx33 sorting nexin 33 gene DOID:630 genetic disease ISO RGD:1603528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307898 Snx33 sorting nexin 33 gene DOID:9256 colorectal cancer ISO RGD:1603528 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307899 Serpina1f serpin family A member 1F gene DOID:0080054 achondrogenesis type IA ISO RGD:1345816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1307899 Serpina1f serpin family A member 1F gene DOID:0081063 DICER1 syndrome ISO RGD:1345816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:7240710 20130221 OMIM 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:24478195|PMID:24519609|PMID:25251575|PMID:25741868|PMID:28492532|PMID:29595812|PMID:30985308|PMID:31099171|PMID:31159867|PMID:32383316|PMID:34567078 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:630 genetic disease ISO RGD:1606092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307900 Ifitm5 interferon induced transmembrane protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 1307901 Tmem38a transmembrane protein 38a gene DOID:0080600 COVID-19 ISO RGD:1351909 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307901 Tmem38a transmembrane protein 38a gene DOID:630 genetic disease ISO RGD:1351909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307902 Mtmr12 myotubularin related protein 12 gene DOID:630 genetic disease ISO RGD:1317364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307902 Mtmr12 myotubularin related protein 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317364 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307903 Stxbp4 syntaxin binding protein 4 gene DOID:630 genetic disease ISO RGD:1317366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307903 Stxbp4 syntaxin binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317366 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604541 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:7240710 20140903 OMIM 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:22492562|PMID:23008233|PMID:24706556|PMID:25741868|PMID:26741492|PMID:26780086|PMID:26893310|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28748215|PMID:28973083|PMID:31520968|PMID:31665838|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33855712|PMID:33962821|PMID:34440436 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22492562|PMID:25741868|PMID:26780086|PMID:26893310|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31520968|PMID:33128823 1307904 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1604541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22492562|PMID:25741868|PMID:26893310|PMID:28492532 1307905 Kntc1 kinetochore associated 1 gene DOID:10283 prostate cancer ISO RGD:1317369 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1307905 Kntc1 kinetochore associated 1 gene DOID:630 genetic disease ISO RGD:1317369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1317371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0111254 glutaric acidemia I ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:10283 prostate cancer ISO RGD:1317371 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:3413 alpha-mannosidosis ISO RGD:1317371 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:630 genetic disease ISO RGD:1317371 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:7240710 20230125 OMIM 1307906 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H PMID:31461301 1307907 Tmem87b transmembrane protein 87B gene DOID:630 genetic disease ISO RGD:1605922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307908 Ing5 inhibitor of growth family, member 5 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1307908 Ing5 inhibitor of growth family, member 5 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1307908 Ing5 inhibitor of growth family, member 5 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1307908 Ing5 inhibitor of growth family, member 5 gene DOID:1059 intellectual disability ISO RGD:1317373 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307908 Ing5 inhibitor of growth family, member 5 gene DOID:630 genetic disease ISO RGD:1317373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307908 Ing5 inhibitor of growth family, member 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1307910 Pcbp4 poly(rC) binding protein 4 gene DOID:630 genetic disease ISO RGD:1317376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307911 Wbp11 WW domain binding protein 11 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1307911 Wbp11 WW domain binding protein 11 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1307911 Wbp11 WW domain binding protein 11 gene DOID:630 genetic disease ISO RGD:1317378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307911 Wbp11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:7240710 20210421 OMIM 1307911 Wbp11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 1307912 Phc2 polyhomeotic homolog 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317380 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1307912 Phc2 polyhomeotic homolog 2 gene DOID:630 genetic disease ISO RGD:1317380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307914 Ptdss2 phosphatidylserine synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1307914 Ptdss2 phosphatidylserine synthase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1307914 Ptdss2 phosphatidylserine synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1307914 Ptdss2 phosphatidylserine synthase 2 gene DOID:630 genetic disease ISO RGD:1317384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307915 Ammecr1l AMMECR1 like gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1605931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1307915 Ammecr1l AMMECR1 like gene DOID:630 genetic disease ISO RGD:1605931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317388 D RGD:4890373|PMID:18447576 20101215 RGD protein:increased expression:lung,bronchoalveolar lavage fluid: 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317388 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1317388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0050851 glomerulosclerosis IDA D RGD:7207203|PMID:20406136 20130123 RGD associated with Hyperhomocysteinemia 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0050851 glomerulosclerosis IEP D RGD:7207363|PMID:21275176 20130130 RGD protein:decreased expression:kidney (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0050855 renal fibrosis ISO RGD:1317388 D RGD:7207134|PMID:14674437 20130122 RGD human gene in mouse model; associated with Diabetes Mellitus, Experimental 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1317388 D RGD:8549736|PMID:19734590 20140402 RGD protein:increased expression:papillary muscle of left ventricle 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1317388 D RGD:8693675|PMID:20935575 20140717 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0060249 scoliosis IEP D RGD:7207288|PMID:21554726 20130129 RGD protein:increased expression:intervertebral disc (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1317388 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:25741868|PMID:28492532 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0060903 thrombosis ISO RGD:1317388 D RGD:7207048|PMID:20616161 20180105 RGD associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1317388 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0080745 polymyositis ISO RGD:1317389 D RGD:8547876|PMID:11157561 20140227 RGD mRNA:increased expression:skeletal muscle 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:1317388 D RGD:7207084|PMID:16164636 20130121 RGD protein:increased expression:renal glomeruli (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1317388 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:10223 dermatomyositis ISO RGD:1317389 D RGD:8547876|PMID:11157561 20140227 RGD mRNA:increased expression:skeletal muscle 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1317388 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1317388 D RGD:8549724|PMID:23441116 20140402 RGD DNA:SNP:promoter:rs1799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1317388 D RGD:8549725|PMID:20808730 20140402 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:10763 hypertension ISO RGD:1317388 D RGD:1582532|PMID:15363819 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:10763 hypertension ISO RGD:1317388 D RGD:2312464|PMID:19506087 20130118 RGD protein:decreased expression:renal glomerulus (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1317388 D RGD:7794712|PMID:12768791 20140402 RGD protein:increased expression:skin 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317388 D RGD:7207077|PMID:17986285 20130121 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1317388 D RGD:7207140|PMID:11705862 20130122 RGD protein:increased expression:urine (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317388 D RGD:1582538|PMID:12952838 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1317388 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317388 D RGD:1582541|PMID:12167381 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1317388 D RGD:4890382|PMID:17178334 20101215 RGD mRNA:increased expression:myocardium (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:13001 carotid stenosis ISO RGD:1317388 D RGD:1580553|PMID:12364729 19990101 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1324 lung cancer ISO RGD:1317388 D RGD:4890379|PMID:19963114 20101215 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1324 lung cancer ISO RGD:1317388 D RGD:5131088|PMID:15718477 20110420 RGD associated with Respiratory Tract Diseases 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1317388 D RGD:7207021|PMID:11691799 20130116 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1317388 D RGD:8549725|PMID:20808730 20140402 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317388 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased expression:aorta (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317388 D RGD:1582530|PMID:15561045 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1612 breast cancer ISO RGD:1317388 D RGD:2298552|PMID:18366705 20140402 RGD protein:decreased expression:plasma 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317388 D RGD:7207143|PMID:21835023 20130122 RGD protein:increased expression:breast, stromal cell (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1317388 D RGD:7207138|PMID:12473595 20130122 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1712 aortic valve stenosis ISO RGD:1317388 D RGD:1582522|PMID:15780799 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1936 atherosclerosis ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21742783 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317388 D RGD:7207025|PMID:11375412 20130116 RGD human gene in mouse model 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:2320 obstructive lung disease severity ISO RGD:1317388 D RGD:4890377|PMID:11875051 20101215 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1317388 D RGD:1582525|PMID:15621056 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:2394 ovarian cancer ISO RGD:1317388 D RGD:7207020|PMID:10485461 20130116 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:2841 asthma ISO RGD:1317388 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:24469321 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:7207216|PMID:23173262 20130124 RGD mRNA:increased expression:bone (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317388 D RGD:7240710 20130731 OMIM 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317388 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in PMID:11741975|PMID:11875051|PMID:18030675|PMID:9850057 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317388 D RGD:7207054|PMID:19796283 20130117 RGD protein:increased expression:serum (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3393 coronary artery disease ISO RGD:1317388 D RGD:7207049|PMID:17893005 20130117 RGD DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3393 coronary artery disease severity ISO RGD:1317388 D RGD:1582527|PMID:15619398 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3407 carotid artery disease severity ISO RGD:1317388 D RGD:1582361|PMID:15073384 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3770 pulmonary fibrosis IDA D RGD:7207277|PMID:22571259 20130129 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:418 systemic scleroderma ISO RGD:1317388 D RGD:8548651|PMID:22286923 20140402 RGD mRNA:decreased expression:skin 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:418 systemic scleroderma severity ISO RGD:1317388 D RGD:8693663|PMID:12051403 20140717 RGD protein:increased expression:serum 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:4362 cervical cancer disease_progression ISO RGD:1317388 D RGD:7207024|PMID:14550952 20130116 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:1317388 D RGD:7207082|PMID:17980059 20130121 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1317388 D RGD:7207023|PMID:12845675 20130116 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1317388 D RGD:7207058|PMID:19321798 20130117 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1317388 D RGD:7240710 20131030 OMIM 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:4959 epidermolysis bullosa dystrophica severity ISO RGD:1317388 D RGD:8549728|PMID:18030675 20140402 RGD DNA:insertion:promoter:g.-1607_-1606insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5082 liver cirrhosis IDA D RGD:7207132|PMID:16124044 20130122 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5082 liver cirrhosis severity IEP D RGD:7207396|PMID:14606082 20130131 RGD protein:decreased expression:serum (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5517 stomach carcinoma ISO RGD:1317388 D RGD:7206857|PMID:20944126 20130116 RGD mRNA:increased expression:gastric mucosa (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction IDA D RGD:7207136|PMID:11179039 20130122 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction IEP D RGD:7207198|PMID:8531210 20130123 RGD protein:increased expression, increased activity:heart left ventricle (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1317388 D RGD:1582535|PMID:15009768 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction ISO RGD:1317388 D RGD:7207135|PMID:19797822 20130122 RGD human gene in rat model 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317388 D RGD:1582520|PMID:16210545 20061113 RGD associated with Coronary Artery Disease; DNA:snps, haplotype:promoter:g.-519A>G, g.-340T>C (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:6000 congestive heart failure IDA D RGD:7207282|PMID:21866669 20130129 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:6000 congestive heart failure ISO RGD:1317388 D RGD:1582539|PMID:12892382 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1317388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:6432 pulmonary hypertension IDA D RGD:7207217|PMID:23087098 20130124 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1317388 D RGD:7207129|PMID:9972954 20130122 RGD protein:increased expression:plasma (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1317388 D RGD:1582519|PMID:16293969 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:783 end stage renal disease no_association ISO RGD:1317388 D RGD:7206856|PMID:22401717 20130128 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:783 end stage renal disease severity ISO RGD:1317388 D RGD:7207064|PMID:19221176 20130118 RGD DNA:insertion, haplotype:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:799 varicose veins ISO RGD:1317388 D RGD:1582540|PMID:12175972 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:824 periodontitis ISO RGD:1317388 D RGD:7207044|PMID:11876270 20130117 RGD protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1317388 D RGD:7207129|PMID:9972954 20130122 RGD protein:increased expression:plasma (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:8472 localized scleroderma ISO RGD:1317388 D RGD:1582543|PMID:9804345 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:8577 ulcerative colitis IDA D RGD:7207395|PMID:18837084 20130131 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:1317388 D RGD:1582536|PMID:14675588 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:8923 skin melanoma ISO RGD:1317388 D RGD:8549726|PMID:20655738 20140402 RGD DNA:polymorphisms, haplotypes:promoter:multiple 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:1317388 D RGD:8549727|PMID:22198560 20140402 RGD DNA:SNPs, haplotype:promoter:multiple 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1317388 D RGD:7207194|PMID:10644865 20130123 RGD protein:increased expression:serum (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:90 degenerative disc disease IDA D RGD:7207382|PMID:19916288 20130130 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9000438 Subarachnoid Hemorrhage no_association ISO RGD:1317388 D RGD:1582365|PMID:11546917 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1317388 D RGD:1582537|PMID:14499230 20061113 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:19487542|PMID:22580338|PMID:23548910 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1317388 D RGD:7206856|PMID:22401717 20130116 RGD mRNA:increased expression:gingiva (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:1317388 D RGD:7207046|PMID:15312099 20130117 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1317388 D RGD:7207045|PMID:12622858 20130117 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1317388 D RGD:8549735|PMID:23064462 20140402 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12557150 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001617 Congenital Nephrotic Syndrome with or without Ocular Abnormalities ISO RGD:1317389 D RGD:7207147|PMID:11014984 20130122 RGD protein:decreased activity:kidney (mouse) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9001665 Aneurysm ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21742783 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002221 Hyperplasia IDA D RGD:7207219|PMID:22860019 20130124 RGD Intimal Hyperplasia 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1317388 D RGD:7207056|PMID:19843588 20130117 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002331 Knee Osteoarthritis treatment IEP D RGD:8549737|PMID:21167838 20140402 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002457 Experimental Arthritis IDA D RGD:7207362|PMID:21288455 20130130 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002457 Experimental Arthritis IDA D RGD:7207365|PMID:21108488 20130130 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:8549748|PMID:24011916 20140403 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002804 Amaurosis Fugax ISO RGD:1317388 D RGD:1582361|PMID:15073384 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002884 Emphysema ISO RGD:1317388 D RGD:4890371|PMID:19293200 20101215 RGD DNA:intron:snp:IVS1+18C>T rs470358 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:1317389 D RGD:7207133|PMID:15259001 20130122 RGD protein:increased activity:lung, spleen (mouse) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1317388 D RGD:8549733|PMID:21154774 20140402 RGD DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9004484 Sepsis IEP D RGD:8549749|PMID:23478082 20140403 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005172 Lung Neoplasms no_association ISO RGD:1317388 D RGD:7207056|PMID:19843588 20130117 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1317388 D RGD:8549722|PMID:19622769 20140402 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005384 Adult Cerebral Astrocytoma susceptibility ISO RGD:1317388 D RGD:7207034|PMID:17502998 19990101 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7207377|PMID:20082587 20130130 RGD protein:increased expression:periodontal ligament, alveolar bone of mandible (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005647 Experimental Autoimmune Uveitis onset IEP D RGD:7207388|PMID:19755419 20130130 RGD mRNA, protein:increased expression:eye (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9005700 Airway Obstruction ISO RGD:1317388 D RGD:4890372|PMID:19191136 20101215 RGD associated with Asthma; DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1317388 D RGD:1582530|PMID:15561045 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1317388 D RGD:7207056|PMID:19843588 20130117 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9007096 Stroke ISO RGD:1317388 D RGD:1582542|PMID:11720009 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7207397|PMID:17996137 20130131 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1317388 D RGD:1582539|PMID:12892382 20061113 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9007877 Fetal Hypoxia IEP D RGD:7207283|PMID:21856922 20130129 RGD protein:altered expression:heart (rat) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9008 psoriatic arthritis ISO RGD:1317388 D RGD:7207129|PMID:9972954 20130122 RGD protein:increased expression:plasma (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1317388 D RGD:7207022|PMID:11489811 20130116 RGD DNA:insertion:promoter:g.-1607insG (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1317388 D RGD:8549721|PMID:20852404 20140402 RGD DNA:SNP 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23548910 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317388 D RGD:7207129|PMID:9972954 20130122 RGD protein:increased expression:plasma (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9206 Barrett's esophagus ISO RGD:1317388 D RGD:7207058|PMID:19321798 20130117 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9282 ocular hypertension ISO RGD:1317388 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20089869 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9282 ocular hypertension treatment ISO RGD:1317388 D RGD:8549723|PMID:20089869 20140402 RGD 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7207379|PMID:19951028 20130130 RGD protein:increased expression:nucleus pulposus 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317388 D RGD:2312464|PMID:19506087 20130118 RGD protein:decreased expression:renal glomerulus (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:9675 pulmonary emphysema ISO RGD:1317388 D RGD:4890375|PMID:17363767 20101215 RGD DNA:insertion:promoter:g.-1607insG rs1799750 (human) 1307917 Mmp1 matrix metallopeptidase 1 gene DOID:971 tendinitis IEP D RGD:8549751|PMID:22926534 20140403 RGD 1307918 Znhit2 zinc finger, HIT-type containing 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1307918 Znhit2 zinc finger, HIT-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1348570 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307918 Znhit2 zinc finger, HIT-type containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307918 Znhit2 zinc finger, HIT-type containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1307918 Znhit2 zinc finger, HIT-type containing 2 gene DOID:3070 high grade glioma ISO RGD:1348570 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1307918 Znhit2 zinc finger, HIT-type containing 2 gene DOID:630 genetic disease ISO RGD:1348570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307919 Mfap5 microfibril associated protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1307919 Mfap5 microfibril associated protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1317391 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1307919 Mfap5 microfibril associated protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1317391 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1307919 Mfap5 microfibril associated protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1307919 Mfap5 microfibril associated protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1317391 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1307919 Mfap5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868 1307919 Mfap5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 1307919 Mfap5 microfibril associated protein 5 gene DOID:630 genetic disease ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307919 Mfap5 microfibril associated protein 5 gene DOID:65 connective tissue disease ISO RGD:1317391 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 1307919 Mfap5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:7240710 20171011 OMIM 1307919 Mfap5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 1307919 Mfap5 microfibril associated protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317391 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1307920 Tbc1d15 TBC1 domain family, member 15 gene DOID:630 genetic disease ISO RGD:1317393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307921 Ldb2 LIM domain binding 2 gene DOID:630 genetic disease ISO RGD:1317395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307922 Tmem9 transmembrane protein 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1307922 Tmem9 transmembrane protein 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1317397 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307922 Tmem9 transmembrane protein 9 gene DOID:630 genetic disease ISO RGD:1317397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307922 Tmem9 transmembrane protein 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1307922 Tmem9 transmembrane protein 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317397 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307924 Morc3 MORC family CW-type zinc finger 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1307924 Morc3 MORC family CW-type zinc finger 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1307924 Morc3 MORC family CW-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1317400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307924 Morc3 MORC family CW-type zinc finger 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317400 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 1307925 Tbc1d23 TBC1 domain family, member 23 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1601860 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28823707 1307925 Tbc1d23 TBC1 domain family, member 23 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1601860 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:28823707 1307925 Tbc1d23 TBC1 domain family, member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:7240710 20190315 OMIM 1307925 Tbc1d23 TBC1 domain family, member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 PMID:25741868|PMID:28823706|PMID:28823707 1307925 Tbc1d23 TBC1 domain family, member 23 gene DOID:630 genetic disease ISO RGD:1601860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307926 Cnnm3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:1059 intellectual disability ISO RGD:1317403 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307926 Cnnm3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:5419 schizophrenia ISO RGD:1317403 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307926 Cnnm3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:630 genetic disease ISO RGD:1317403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307927 Dennd1a DENN domain containing 1A gene DOID:630 genetic disease ISO RGD:1317405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307928 Lamp3 lysosomal-associated membrane protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1317407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1307928 Lamp3 lysosomal-associated membrane protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1317407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1307928 Lamp3 lysosomal-associated membrane protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1317407 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1307928 Lamp3 lysosomal-associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:1317407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307928 Lamp3 lysosomal-associated membrane protein 3 gene DOID:9001488 Human Influenza ISO RGD:1317407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1307929 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:10283 prostate cancer ISO RGD:1605423 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307929 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:630 genetic disease ISO RGD:1605423 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307930 Paip2b poly(A) binding protein interacting protein 2B gene DOID:543 dystonia ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307930 Paip2b poly(A) binding protein interacting protein 2B gene DOID:630 genetic disease ISO RGD:1605487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307930 Paip2b poly(A) binding protein interacting protein 2B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1307932 Cldn4 claudin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317413 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1307932 Cldn4 claudin 4 gene DOID:0060496 respiratory allergy ISO RGD:1317413 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 1307932 Cldn4 claudin 4 gene DOID:10923 sickle cell anemia ISO RGD:1317413 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1307932 Cldn4 claudin 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1307932 Cldn4 claudin 4 gene DOID:12849 autistic disorder ISO RGD:1317413 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307932 Cldn4 claudin 4 gene DOID:13976 peptic esophagitis IEP D RGD:2317602|PMID:16143882 20100412 RGD protein:altered localization:esophagus epithelium, cytoplasm 1307932 Cldn4 claudin 4 gene DOID:1790 malignant mesothelioma ISO RGD:1317413 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 1307932 Cldn4 claudin 4 gene DOID:1793 pancreatic cancer ISO RGD:1317413 D RGD:2317580|PMID:19793693 20100412 RGD 1307932 Cldn4 claudin 4 gene DOID:1793 pancreatic cancer ISO RGD:1317413 D RGD:2317583|PMID:19555390 20100412 RGD 1307932 Cldn4 claudin 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1317413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1307932 Cldn4 claudin 4 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1317413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 1307932 Cldn4 claudin 4 gene DOID:2394 ovarian cancer ISO RGD:1317413 D RGD:2317583|PMID:19555390 20100412 RGD 1307932 Cldn4 claudin 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1317413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 1307932 Cldn4 claudin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1317413 D RGD:2317592|PMID:15693851 20100412 RGD 1307932 Cldn4 claudin 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317413 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1307932 Cldn4 claudin 4 gene DOID:5419 schizophrenia ISO RGD:1317413 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307932 Cldn4 claudin 4 gene DOID:630 genetic disease ISO RGD:1317413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307932 Cldn4 claudin 4 gene DOID:8445 intestinal volvulus ISO RGD:1317413 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1307932 Cldn4 claudin 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:2317600|PMID:17375208 20100412 RGD protein:increased expression, altered localization:small intestine epithelium 1307932 Cldn4 claudin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317413 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307932 Cldn4 claudin 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1317413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 1307932 Cldn4 claudin 4 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317413 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1307932 Cldn4 claudin 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 1307933 Leng1 leukocyte receptor cluster member 1 gene DOID:630 genetic disease ISO RGD:1317415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307934 R3hcc1l R3H domain and coiled-coil containing 1-like gene DOID:630 genetic disease ISO RGD:1317417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1601851 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1601851 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:12849 autistic disorder ISO RGD:1601851 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:5419 schizophrenia ISO RGD:1601851 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:630 genetic disease ISO RGD:1601851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601851 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307935 Dhrs11 dehydrogenase/reductase 11 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1601851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 1307937 Clhc1 clathrin heavy chain linker domain containing 1 gene DOID:630 genetic disease ISO RGD:1606727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307938 Morf4l1 mortality factor 4 like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317423 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1307938 Morf4l1 mortality factor 4 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1317423 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307938 Morf4l1 mortality factor 4 like 1 gene DOID:630 genetic disease ISO RGD:1317423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307938 Morf4l1 mortality factor 4 like 1 gene DOID:9256 colorectal cancer ISO RGD:1317423 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307939 Cpne8 copine 8 gene DOID:630 genetic disease ISO RGD:1317425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307940 Aff1 ALF transcription elongation factor 1 gene DOID:3307 teratoma ISO RGD:1317426 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1307940 Aff1 ALF transcription elongation factor 1 gene DOID:630 genetic disease ISO RGD:1317426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307941 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:1317427 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307941 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307941 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:9003133 Hypertelorism ISO RGD:1317427 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 1307941 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO D RGD:40886317|PMID:22610944 20201207 RGD DNA:SNP:exon: p.Ser1254Asn (human) 1307942 Mrpl58 mitochondrial ribosomal protein L58 gene DOID:630 genetic disease ISO RGD:1317429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307943 Efcab10 EF-hand calcium binding domain 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2301274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 1307943 Efcab10 EF-hand calcium binding domain 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31173646|PMID:31204009|PMID:32566746|PMID:33471991 1307943 Efcab10 EF-hand calcium binding domain 10 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:2301274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:28492532|PMID:9536098 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:0080600 COVID-19 ISO RGD:1317432 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:12849 autistic disorder ISO RGD:1317432 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:1540 parathyroid carcinoma ISO RGD:1317432 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:630 genetic disease ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:7240710 20190315 OMIM 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 PMID:25741868|PMID:26159176|PMID:26307080|PMID:28492532 1307944 Ppp1r15b protein phosphatase 1, regulatory subunit 15B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317432 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307945 Def6 DEF6 guanine nucleotide exchange factor gene DOID:0050553 JMP syndrome ISO RGD:1317434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1307945 Def6 DEF6 guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1317434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307945 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:7240710 20211110 OMIM 1307945 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity PMID:25741868|PMID:28492532|PMID:31308374|PMID:32562707 1307945 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532|PMID:30193310 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1606480 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:34196655|PMID:9536098 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050778 Meckel syndrome ISO RGD:1606480 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1606480 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:28492532 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606480 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:28492532 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1606480 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1059 intellectual disability ISO RGD:1606480 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1606480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463|PMID:34196655 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606480 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:630 genetic disease ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:8501 fundus dystrophy ISO RGD:1606480 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606480 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463 1307947 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1606480 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:28492532 1307948 Zfp64 zinc finger protein 64 gene DOID:630 genetic disease ISO RGD:1317439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307949 Usp30 ubiquitin specific peptidase 30 gene DOID:630 genetic disease ISO RGD:1317441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307950 Glrx2 glutaredoxin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317443 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307950 Glrx2 glutaredoxin 2 gene DOID:630 genetic disease ISO RGD:1317443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307950 Glrx2 glutaredoxin 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1317443 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 1307950 Glrx2 glutaredoxin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317443 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0050610 oral cavity carcinoma in situ disease_progression ISO RGD:1317446 D RGD:28867233|PMID:27499128 20200605 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0080600 COVID-19 ISO RGD:1317446 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317446 D RGD:28867238|PMID:28498618 20200608 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:28867241|PMID:19878654 20200608 RGD mRNA:increased expression:stomach 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:28867243|PMID:19081476 20200608 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1317446 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1612 breast cancer disease_progression ISO RGD:1317446 D RGD:28867230|PMID:31140425 20200605 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1612 breast cancer disease_progression ISO RGD:1317446 D RGD:28867231|PMID:31198978 20200605 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer ISO RGD:1317446 D RGD:11058437|PMID:26045769 20200605 RGD mRNA:increased expression:pancreas 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer treatment ISO RGD:1317446 D RGD:28867232|PMID:25370920 20200605 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1909 melanoma disease_progression ISO RGD:1317446 D RGD:28867234|PMID:27237743 20200605 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1317446 D RGD:28867236|PMID:17079454 20200608 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317446 D RGD:28912743|PMID:32226507 20200610 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1317446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1317446 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1317446 D RGD:28912742|PMID:31933938 20200610 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317446 D RGD:28867240|PMID:30653265 20200608 RGD 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9001308 Wittwer Syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wittwer syndrome 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9007661 Dwarfism ISO RGD:1317446 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33721060 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317446 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer ISO RGD:1317446 D RGD:28867241|PMID:19878654 20200608 RGD mRNA:increased expression:colorectum 1307952 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317446 D RGD:28867244|PMID:24247253 20200608 RGD 1307953 Tmem104 transmembrane protein 104 gene DOID:630 genetic disease ISO RGD:1606542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307954 Prr5 proline rich 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604351 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1307954 Prr5 proline rich 5 gene DOID:1059 intellectual disability ISO RGD:1604351 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307954 Prr5 proline rich 5 gene DOID:630 genetic disease ISO RGD:1604351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24874954 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0060058 lymphoma ISO RGD:1317450 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:10907 microcephaly ISO RGD:1317450 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11514 fissured tongue ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Plicated tongue PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11836 clubfoot ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1588 thrombocytopenia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1657 ventricular septal defect ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1856 cherubism ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:2355 anemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317450 D RGD:155663369|PMID:34551195 20221114 RGD mRNA:increased expression:lung (human) 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:630 genetic disease ISO RGD:1317450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25188243|PMID:28492532 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001031 Retrognathia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: retrognathism PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001308 Wittwer Syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:7240710 20220330 OMIM 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rauch-Steindl syndrome PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:31382906|PMID:33276791|PMID:33941880 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317450 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33941880 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005078 Congenital Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005369 Hepatomegaly ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24076604 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007817 Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24874954 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317450 D RGD:11554173 20200326 CTD CTD Direct Evidence: therapeutic PMID:24076604 1307955 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9993 hypoglycemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868 1307957 Kif26a kinesin family member 26A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1317452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1307957 Kif26a kinesin family member 26A gene DOID:630 genetic disease ISO RGD:1317452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:36228617 1307957 Kif26a kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:7240710 20221214 OMIM 1307957 Kif26a kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11 PMID:36228617 1307958 Actr5 actin related protein 5 gene DOID:2234 focal epilepsy ISO RGD:1317453 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1307958 Actr5 actin related protein 5 gene DOID:630 genetic disease ISO RGD:1317453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307959 Hpse2 heparanase 2 (inactive) gene DOID:0050816 urofacial syndrome ISO RGD:1317455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20560209 1307959 Hpse2 heparanase 2 (inactive) gene DOID:0050816 urofacial syndrome ISO RGD:1317455 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ochoa syndrome PMID:25741868 1307959 Hpse2 heparanase 2 (inactive) gene DOID:0080205 CAKUT ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:19669792|PMID:20560210|PMID:25510506|PMID:27151922|PMID:28492532|PMID:30143558 1307959 Hpse2 heparanase 2 (inactive) gene DOID:630 genetic disease ISO RGD:1317455 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307959 Hpse2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:7240710 20180221 OMIM 1307959 Hpse2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urofacial syndrome type 1 PMID:11446407|PMID:19669792|PMID:19839856|PMID:20560209|PMID:20560210|PMID:21332471|PMID:25510506|PMID:25741868|PMID:27151922|PMID:28492532|PMID:30143558 1307960 Ube2l6 ubiquitin-conjugating enzyme E2L 6 gene DOID:1059 intellectual disability ISO RGD:1317456 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307960 Ube2l6 ubiquitin-conjugating enzyme E2L 6 gene DOID:630 genetic disease ISO RGD:1317456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307960 Ube2l6 ubiquitin-conjugating enzyme E2L 6 gene DOID:9001488 Human Influenza ISO RGD:1317456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1307962 Ppp1r16a protein phosphatase 1, regulatory subunit 16A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1307962 Ppp1r16a protein phosphatase 1, regulatory subunit 16A gene DOID:4621 holoprosencephaly ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1307962 Ppp1r16a protein phosphatase 1, regulatory subunit 16A gene DOID:630 genetic disease ISO RGD:1317459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307963 Slc31a2 solute carrier family 31 member 2 gene DOID:630 genetic disease ISO RGD:1317461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307965 Ppa2 inorganic pyrophosphatase 2 gene DOID:630 genetic disease ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 1307965 Ppa2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:7240710 20190315 OMIM 1307965 Ppa2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, infantile PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 1307965 Ppa2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:7240710 20190315 OMIM 1307965 Ppa2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:34400813 1307966 Fam171a2 family with sequence similarity 171, member A2 gene DOID:630 genetic disease ISO RGD:2298821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307967 Phyhipl phytanoyl-CoA 2-hydroxylase interacting protein-like gene DOID:630 genetic disease ISO RGD:1317467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307968 Elane elastase, neutrophil expressed gene DOID:0050073 invasive aspergillosis ISO RGD:1624045 D RGD:10450528|PMID:24054721 20160115 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:10450514|PMID:24616599 20160115 RGD DNA:mutation:intron:c.597+1G>A (human) 1307968 Elane elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:10450519|PMID:21425445 20160115 RGD DNA:mutations: : 1307968 Elane elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:10450525|PMID:19620402 20160115 RGD mRNA:decreased expression:myeloid CD33+ cell: 1307968 Elane elastase, neutrophil expressed gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:1598891|PMID:10581030 20061220 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317469 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1307968 Elane elastase, neutrophil expressed gene DOID:0080178 mucositis IMP D RGD:10450554|PMID:9823937 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:0080600 COVID-19 ISO RGD:1317469 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 1307968 Elane elastase, neutrophil expressed gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:7240710 20140212 OMIM 1307968 Elane elastase, neutrophil expressed gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16551967|PMID:16737875|PMID:17053055|PMID:17576681|PMID:18028488|PMID:18611981|PMID:19036076|PMID:20049848|PMID:20301705|PMID:20582973|PMID:21425445|PMID:22148006|PMID:22758217|PMID:23463630|PMID:24523240|PMID:24616599|PMID:25427142|PMID:25741868|PMID:26567890|PMID:28073911|PMID:28492532|PMID:30040071|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31248972|PMID:31321910|PMID:3229910|PMID:32581362|PMID:33318085|PMID:9536098 1307968 Elane elastase, neutrophil expressed gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1317469 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:24033266 1307968 Elane elastase, neutrophil expressed gene DOID:10247 pleurisy IMP D RGD:10450565|PMID:20860667 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:10450544|PMID:20655560 20160118 RGD protein:increased expression:plasma: 1307968 Elane elastase, neutrophil expressed gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:10450545|PMID:10912863 20160118 RGD associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma: 1307968 Elane elastase, neutrophil expressed gene DOID:1227 neutropenia ISO RGD:1317469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436313 1307968 Elane elastase, neutrophil expressed gene DOID:1227 neutropenia ISO RGD:1317469 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:10581030|PMID:17576681|PMID:20049848|PMID:23463630|PMID:25741868|PMID:28492532|PMID:30040071|PMID:32581362|PMID:9536098 1307968 Elane elastase, neutrophil expressed gene DOID:14115 toxic shock syndrome treatment IMP D RGD:10450579|PMID:18323746 20160119 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:2224 essential thrombocythemia ISO RGD:1317469 D RGD:10450556|PMID:18768782 20160118 RGD protein:increased expression:plasma: 1307968 Elane elastase, neutrophil expressed gene DOID:224 transient cerebral ischemia treatment IMP D RGD:10450558|PMID:19168036 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:2562 suppurative periapical periodontitis IEP D RGD:10450566|PMID:19913217 20160118 RGD protein:increased expression:neutrophil: 1307968 Elane elastase, neutrophil expressed gene DOID:2921 glomerulonephritis ISO RGD:1624045 D RGD:6907051|PMID:19752320 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 1307968 Elane elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28492532 1307968 Elane elastase, neutrophil expressed gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 1307968 Elane elastase, neutrophil expressed gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:10450546|PMID:10700596 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:3770 pulmonary fibrosis IMP D RGD:10450562|PMID:19995276 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1307968 Elane elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:10450519|PMID:21425445 20160115 RGD DNA:mutations: : 1307968 Elane elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:7240710 20130221 OMIM 1307968 Elane elastase, neutrophil expressed gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16199547|PMID:16551967|PMID:16737875|PMID:16986121|PMID:17436313|PMID:17576681|PMID:18028488|PMID:18611981|PMID:18703682|PMID:19036076|PMID:19415009|PMID:19775295|PMID:20049848|PMID:20582973|PMID:20803142|PMID:21425445|PMID:21618407|PMID:22148006|PMID:22510773|PMID:22624626|PMID:22758217|PMID:23382209|PMID:23463630|PMID:24184683|PMID:24523240|PMID:24616599|PMID:25162927|PMID:25427142|PMID:25703294|PMID:25705433|PMID:25741868|PMID:25912133|PMID:26567890|PMID:28073911|PMID:28492532|PMID:29076228|PMID:29517659|PMID:30040071|PMID:30171085|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31009763|PMID:31176364|PMID:31248972|PMID:31321910|PMID:31574885|PMID:31965297|PMID:3229910|PMID:32581362|PMID:33179225|PMID:33225392|PMID:34340247|PMID:9536098 1307968 Elane elastase, neutrophil expressed gene DOID:630 genetic disease ISO RGD:1317469 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1307968 Elane elastase, neutrophil expressed gene DOID:7427 anthrax disease ISO RGD:1624045 D RGD:10450550|PMID:19049643 20160118 RGD protein:increased expression:plasma: 1307968 Elane elastase, neutrophil expressed gene DOID:824 periodontitis susceptibility ISO RGD:1317469 D RGD:10450515|PMID:21796505 20160115 RGD associated with Severe Congenital Neutropenia;DNA:mutations: : 1307968 Elane elastase, neutrophil expressed gene DOID:8997 polycythemia vera IMP D RGD:10450557|PMID:12186827 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:8997 polycythemia vera ISO RGD:1317469 D RGD:10450556|PMID:18768782 20160118 RGD protein:increased expression:plasma: 1307968 Elane elastase, neutrophil expressed gene DOID:9000197 Edema treatment IMP D RGD:10450565|PMID:20860667 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1624045 D RGD:10450549|PMID:18276796 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9001553 Spinal Cord Compression treatment IMP D RGD:10450552|PMID:9675307 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9002159 Liver Reperfusion Injury IMP D RGD:10450560|PMID:10588515 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9003202 Pulmonary Hemorrhage IMP D RGD:10450559|PMID:7587785 20160118 RGD associated with Pancreatitis, Experimental, sepsis; 1307968 Elane elastase, neutrophil expressed gene DOID:9004237 Hyperoxic Lung Injury treatment IMP D RGD:10450581|PMID:11104832 20160119 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9004347 Skeletal Muscle Reperfusion Injury IMP D RGD:10450555|PMID:7858993 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9004484 Sepsis ISO RGD:1624045 D RGD:10450543|PMID:9585238 20160118 RGD associated with Klebsiella Infections; 1307968 Elane elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury IEP D RGD:10450585|PMID:18283562 20160119 RGD protein:increased expression:perfusate: 1307968 Elane elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury treatment IMP D RGD:10450548|PMID:15257085 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9004610 Acute Lung Injury treatment IMP D RGD:10450587|PMID:17203197 20160119 RGD associated with Shock, Hemorrhagic; 1307968 Elane elastase, neutrophil expressed gene DOID:9005932 Urinary Bladder Reperfusion Injury treatment IMP D RGD:10450583|PMID:18165924 20160119 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:10450580|PMID:16980042 20160119 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9006263 Experimental Pancreatitis treatment IMP D RGD:10450567|PMID:18486906 20160118 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9006827 Lung Reperfusion Injury treatment IMP D RGD:10450582|PMID:17888675 20160119 RGD 1307968 Elane elastase, neutrophil expressed gene DOID:9675 pulmonary emphysema IMP D RGD:10450557|PMID:12186827 20160118 RGD 1307969 Pgm5 phosphoglucomutase 5 gene DOID:630 genetic disease ISO RGD:1346061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307969 Pgm5 phosphoglucomutase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1307970 Sync syncoilin, intermediate filament protein gene DOID:630 genetic disease ISO RGD:1346585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307971 Selplg selectin P ligand gene DOID:0060180 colitis ISO RGD:1317473 D RGD:6218987|PMID:22009715 20120308 RGD 1307971 Selplg selectin P ligand gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1307971 Selplg selectin P ligand gene DOID:0080600 COVID-19 ISO RGD:1317472 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 1307971 Selplg selectin P ligand gene DOID:3407 carotid artery disease ISO RGD:1317472 D RGD:6218985|PMID:22307784 20120308 RGD DNA:polymorphism: :p.M62I (human) 1307971 Selplg selectin P ligand gene DOID:630 genetic disease ISO RGD:1317472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307973 Rilpl1 Rab interacting lysosomal protein-like 1 gene DOID:0081300 oculopharyngodistal myopathy 4 ISO RGD:1602163 D RGD:7240710 20220406 OMIM 1307973 Rilpl1 Rab interacting lysosomal protein-like 1 gene DOID:630 genetic disease ISO RGD:1602163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0050575 D-2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria PMID:18414213|PMID:25741868|PMID:28492532 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:7240710 20190918 OMIM 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:15609246|PMID:16037974|PMID:16081310|PMID:16199547|PMID:16442322|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:22391998|PMID:24715439|PMID:25741868|PMID:26178471|PMID:28135719|PMID:28492532|PMID:30848064|PMID:30908763|PMID:31488895|PMID:33431826|PMID:7609436|PMID:9536098 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606344 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1606344 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1606344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1606344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26178471|PMID:28492532|PMID:33431826 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1307976 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:1606344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15609246 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342911 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022275|PMID:22768177|PMID:22847264 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:7240710 20130221 OMIM 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kufor-Rakeb syndrome PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20227461|PMID:20683840|PMID:20816920|PMID:20853184|PMID:20976737|PMID:21060012|PMID:21094623|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22388936|PMID:22743658|PMID:22768177|PMID:22847264|PMID:22995991|PMID:23499937|PMID:23522931|PMID:24088041|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27165006|PMID:27294386|PMID:28137957|PMID:28492532|PMID:28518168|PMID:29163333|PMID:29606608|PMID:29903538|PMID:29966207|PMID:30232368|PMID:30833663|PMID:30868101|PMID:31771779|PMID:31944623|PMID:31996848|PMID:32461654|PMID:32707456|PMID:495089|PMID:9536098 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0080855 Parkinsonism ISO RGD:1342911 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:23046578 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1342911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:16964263|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29163333|PMID:29966207 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1342911 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:25741868 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:7240710 20190315 OMIM 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 PMID:12169656|PMID:16964263|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19085912|PMID:19458722|PMID:19705361|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22442086|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28137957|PMID:28492532|PMID:29966207|PMID:30833663 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:13548 secondary Parkinson disease ISO RGD:1342911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:10450518|PMID:26223426 20160115 RGD 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23628791|PMID:25149416 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022275|PMID:22847264 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:630 genetic disease ISO RGD:1342911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20683840|PMID:20816920|PMID:21060012|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22743658|PMID:22768177|PMID:22995991|PMID:23499937|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:27294386|PMID:28492532|PMID:28518168|PMID:29966207|PMID:30232368|PMID:30833663|PMID:31771779|PMID:32461654|PMID:9536098 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:9000304 Manganese Poisoning ISO RGD:1342911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 1307977 Atp13a2 ATPase cation transporting 13A2 gene DOID:9002955 Nerve Degeneration ISO RGD:1342911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22847264 1307978 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:13938 amenorrhea ISO RGD:1317482 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1307978 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:2717 Bloom syndrome ISO RGD:1317482 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1307978 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1317482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307978 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307978 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:9256 colorectal cancer ISO RGD:1317482 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1307979 Txlnb taxilin beta gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1317484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1307979 Txlnb taxilin beta gene DOID:630 genetic disease ISO RGD:1317484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307980 Urb2 URB2 ribosome biogenesis homolog gene DOID:10283 prostate cancer ISO RGD:1346688 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307980 Urb2 URB2 ribosome biogenesis homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346688 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1307980 Urb2 URB2 ribosome biogenesis homolog gene DOID:1826 epilepsy ISO RGD:1346688 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1307980 Urb2 URB2 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1346688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307980 Urb2 URB2 ribosome biogenesis homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1307980 Urb2 URB2 ribosome biogenesis homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346688 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1307981 Luc7l3 LUC7-like 3 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1604358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307982 Ola1 Obg-like ATPase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1604016 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1307982 Ola1 Obg-like ATPase 1 gene DOID:10283 prostate cancer ISO RGD:1604016 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1307982 Ola1 Obg-like ATPase 1 gene DOID:630 genetic disease ISO RGD:1604016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307983 Inip INTS3 and NABP interacting protein gene DOID:630 genetic disease ISO RGD:1317489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307985 Lap3 leucine aminopeptidase 3 gene DOID:0080600 COVID-19 ISO RGD:1317491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307985 Lap3 leucine aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1317491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307985 Lap3 leucine aminopeptidase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317491 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:7240710 20220720 OMIM 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 PMID:11080643|PMID:14705117|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153|PMID:35411967 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:7240710 20140911 OMIM 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 70 PMID:11080643|PMID:23084290|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28708278|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32313153 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:7240710 20140903 OMIM 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32313153|PMID:33158637|PMID:33199448|PMID:33812062 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1317494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32313153 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1317494 D RGD:11554169|PMID:23084290 20161020 RGD DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) 1307987 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1307988 Ilvbl ilvB acetolactate synthase like gene DOID:630 genetic disease ISO RGD:1317496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317498 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0080820 occupational asthma ISO RGD:1317498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:7240710 20140911 OMIM 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38 PMID:23065719|PMID:23243086|PMID:24033266|PMID:25741868|PMID:28492532 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:30755392 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1317498 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1317498 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532|PMID:28631899 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:12849 autistic disorder ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:1932 Angelman syndrome ISO RGD:1317498 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1317498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:543 dystonia ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:30755392 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18442486|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30755392 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:8577 ulcerative colitis ISO RGD:1317498 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:7240710 20150722 OMIM 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:17236130|PMID:17952075|PMID:18172690|PMID:18252221|PMID:18252222|PMID:22234890|PMID:25741868|PMID:28492532 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:30755392 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317498 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008173 Paraparesis ISO RGD:1317498 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Paraparesis PMID:25741868 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008675 Dyskinesias ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868|PMID:30755392 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317498 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16397024|PMID:23220880 1307989 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1317498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:26068938|PMID:28492532 1307990 Cytip cytohesin 1 interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1317500 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1307990 Cytip cytohesin 1 interacting protein gene DOID:630 genetic disease ISO RGD:1317500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307991 Sh2d4a SH2 domain containing 4A gene DOID:0080600 COVID-19 ISO RGD:1317502 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1307991 Sh2d4a SH2 domain containing 4A gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1307991 Sh2d4a SH2 domain containing 4A gene DOID:630 genetic disease ISO RGD:1317502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:0080690 RASopathy ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:0081120 Graves ophthalmopathy ISO RGD:1317504 D RGD:7829763|PMID:17608818 20140123 RGD DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:1317504 D RGD:11534005|PMID:23025987 20160914 RGD DNA:snp:promoter:g.-1123G>C (rs2488457) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317504 D RGD:11535006|PMID:22569400 20160916 RGD protein:increased expression:B cell (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1317504 D RGD:11533998|PMID:23287625 20160914 RGD DNA:snp:cds:p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:6484552|PMID:16015369 20120622 RGD DNA: snp : cds: rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:7829737|PMID:18426414 20140123 RGD DNA:polymorphism: :1858C>T (p.R620W) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21190368 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:6484538|PMID:15504986 20120621 RGD DNA: SNP: cds: C1858T 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:7829738|PMID:18687223 20140123 RGD DNA:SNP, haplotype:promoter:-1123G>C (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12361 Graves' disease no_association ISO RGD:1317504 D RGD:7829763|PMID:17608818 20140123 RGD DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12894 Sjogren's syndrome ISO RGD:1317504 D RGD:11534998|PMID:16163373 20160916 RGD DNA:snp:cds:c.1858C>T (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1317504 D RGD:11534999|PMID:15933742 20160916 RGD DNA:snp:cds:c.1858C>T (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:13241 Behcet's disease ISO RGD:1317504 D RGD:6484733|PMID:17660222 20120703 RGD 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:13241 Behcet's disease no_association ISO RGD:1317504 D RGD:7829745|PMID:22396730 20140123 RGD DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:13375 temporal arteritis ISO RGD:1317504 D RGD:7829739|PMID:23946333 20140123 RGD DNA:polymorphism: :p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:13375 temporal arteritis no_association ISO RGD:1317504 D RGD:7829744|PMID:16078327 20140123 RGD DNA:polymorphism: :1858C>T (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:13774 Addison's disease ISO RGD:1317504 D RGD:6484549|PMID:18301444 20120622 RGD DNA: snp: cds: rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:1459 hypothyroidism ISO RGD:1317504 D RGD:6484670|PMID:22493691 20120629 RGD 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:1555 urticaria ISO RGD:1317504 D RGD:7829761|PMID:22722472 20140123 RGD DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:2377 multiple sclerosis no_association ISO RGD:1317504 D RGD:6484550|PMID:15934099 20180222 RGD DNA:missense mutation: :R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:289 endometriosis ISO RGD:1317504 D RGD:6484710|PMID:20070289 20120702 RGD 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:2957 pulmonary tuberculosis ISO RGD:1317504 D RGD:6484723|PMID:19563523 20120702 RGD DNA:SNPs:cds:788G>A, 1858C>T (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:3393 coronary artery disease ISO RGD:1317504 D RGD:6484553|PMID:21846984 20120625 RGD DNA: snp: cds: rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:417 autoimmune disease ISO RGD:1317504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21341673 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:417 autoimmune disease ISO RGD:1552858 D RGD:7829736|PMID:23619366 20140123 RGD DNA:missense mutation:cds:p.R619W (mouse) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:418 systemic scleroderma ISO RGD:1317504 D RGD:6484551|PMID:21131644 20120622 RGD DNA: snp: cds: rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:418 systemic scleroderma no_association ISO RGD:1317504 D RGD:7829741|PMID:16464986 20140123 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:437 myasthenia gravis ISO RGD:1317504 D RGD:6484722|PMID:19693092 20120702 RGD DNA: snp: cds: 1858T 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:630 genetic disease ISO RGD:1317504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317504 D RGD:6484550|PMID:15934099 20120622 RGD DNA: snp : cds : rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:19898480|PMID:20453842|PMID:21190368|PMID:23143596|PMID:30224649 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:6484535|PMID:15208781 20120621 RGD DNA:snp:cds:p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:6484595|PMID:21279993 20120626 RGD DNA:snp:cds:p.R263Q (rs33996649) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1317504 D RGD:7829746|PMID:21467606 20140123 RGD DNA:SNP::1858C>T (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1317504 D RGD:7240710 20190329 OMIM 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:7188 autoimmune thyroiditis ISO RGD:1317504 D RGD:6484667|PMID:22374238 20120628 RGD 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8778 Crohn's disease ISO RGD:1317504 D RGD:6484668|PMID:18587394 20120629 RGD DNA:SNP:cds:rs2476601 (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:7829762|PMID:18341666 20140123 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:7829765|PMID:20039785 20140123 RGD DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8893 psoriasis onset ISO RGD:1317504 D RGD:7829762|PMID:18341666 20140123 RGD DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8893 psoriasis susceptibility ISO RGD:1317504 D RGD:7829764|PMID:18923449 20140123 RGD DNA:SNP:3' utr: (rs3789604) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1317504 D RGD:6484673|PMID:21597364 20120629 RGD DNA: snp: cds: C1858T 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura no_association ISO RGD:1317504 D RGD:11535019|PMID:27309885 20160919 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9002457 Experimental Arthritis IEP D RGD:11532752|PMID:24998229 20160906 RGD protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:1317504 D RGD:11533997|PMID:22880107 20160914 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy susceptibility ISO RGD:1317504 D RGD:11535001|PMID:18821667 20160916 RGD DNA:snp:cds:p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9007355 Hashimoto Disease ISO RGD:1317504 D RGD:6484548|PMID:15719322 20120622 RGD DNA: snp: cds: rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9008 psoriatic arthritis ISO RGD:1317504 D RGD:6484592|PMID:21410964 20120626 RGD DNA: snp: cds: rs2476601 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9008 psoriatic arthritis no_association ISO RGD:1317504 D RGD:6484550|PMID:15934099 20180222 RGD DNA:missense mutation: :R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:11534992|PMID:23076337 20160916 RGD DNA:snp:cds:c.1858C>T (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204446|PMID:21190368 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:5147973|PMID:17092257 20110830 RGD DNA:missense mutation:cds:p.R620W (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1317504 D RGD:11532755|PMID:18981062 20160906 RGD DNA:missense mutation:cds:p.R263Q (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1317504 D RGD:11533999|PMID:23950893 20160914 RGD DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9351 diabetes mellitus ISO RGD:1317504 D RGD:6484729|PMID:18764813 20120703 RGD DNA: snp: cds: C1858T 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:21190368|PMID:30224649 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:6484524|PMID:15004560 20120622 RGD DNA:snp: cds: 1858C>T 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1317504 D RGD:6484692|PMID:21873553 20120629 RGD 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:9835029|PMID:25505293 20160906 RGD DNA:missense mutation:cds:p.A629T (rat) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1317504 D RGD:11533996|PMID:20176734 20160914 RGD DNA:snp:cds:p.R620W (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1552858 D RGD:11532754|PMID:25513733 20160906 RGD 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:9849 Meniere's disease ISO RGD:1317504 D RGD:7829747|PMID:19780033 20140123 RGD DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) 1307992 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 gene DOID:986 alopecia areata severity ISO RGD:1317504 D RGD:6484734|PMID:16829308 20120703 RGD DNA:snp:cds:c.1858C>T (human) 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1317506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1615754 D RGD:41404633|PMID:9310467 20210128 RGD BCR/ABL fusion 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1317506 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:25741868|PMID:28492532 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:11198 DiGeorge syndrome ISO RGD:1317506 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:1240 leukemia ISO RGD:1317506 D RGD:11038780|PMID:11313935 20160225 RGD 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:5419 schizophrenia ISO RGD:1317506 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1317506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:11038775|PMID:1362728 20160225 RGD DNA:translocations:cds: 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:15604220|PMID:18673174|PMID:21908430|PMID:33070465 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:13674161|PMID:25133686 20180710 RGD DNA:gene fusion 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:14392796|PMID:12067277 20160226 RGD DNA:gene fusion 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:7240710 20130221 OMIM 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:11038776|PMID:2683759 20160225 RGD DNA:translocations:cds: 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:11038783|PMID:7683349 20160225 RGD DNA:methylation: : 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1317506 D RGD:1600510|PMID:3101769 20070312 RGD DNA:gene fusion 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1317506 D RGD:41404631|PMID:12613514 20210128 RGD BCR/ABL fusion 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:8692 myeloid leukemia ISO RGD:12120212 D RGD:9068941 20230406 OMIA Leukaemia, chronic monocytic PMID:21143615|PMID:37009802 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1317506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:9002473 Blast Crisis ISO RGD:1317506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1317506 D RGD:11038809|PMID:19344397 20160226 RGD 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:9005749 Necrosis ISO RGD:1317506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23211037 1307993 Bcr BCR activator of RhoGEF and GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317506 D RGD:7240710 20230505 OMIM 1307994 Myh7b myosin heavy chain 7B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317507 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 1307994 Myh7b myosin heavy chain 7B gene DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210816 RGD 1307994 Myh7b myosin heavy chain 7B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317507 D RGD:126925946|PMID:32207065 20210816 RGD DNA:polymorphism:CDS:multiple (human) 1307994 Myh7b myosin heavy chain 7B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317507 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 1307994 Myh7b myosin heavy chain 7B gene DOID:2843 long QT syndrome ISO RGD:1317507 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1307994 Myh7b myosin heavy chain 7B gene DOID:630 genetic disease ISO RGD:1317507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1307994 Myh7b myosin heavy chain 7B gene DOID:9006836 Contracture ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647|PMID:28492532 1307994 Myh7b myosin heavy chain 7B gene DOID:9007661 Dwarfism ISO RGD:1317507 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1307995 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:0080600 COVID-19 ISO RGD:1344771 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1307995 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1344771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1307995 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:630 genetic disease ISO RGD:1344771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307997 Mrps18c mitochondrial ribosomal protein S18C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317511 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1307997 Mrps18c mitochondrial ribosomal protein S18C gene DOID:630 genetic disease ISO RGD:1317511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307998 Phc3 polyhomeotic homolog 3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1307998 Phc3 polyhomeotic homolog 3 gene DOID:1062 Fanconi syndrome ISO RGD:1317513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1307998 Phc3 polyhomeotic homolog 3 gene DOID:630 genetic disease ISO RGD:1317513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1307999 Plagl2 PLAG1 like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1317514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308000 Lrrk1 leucine-rich repeat kinase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1317516 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1308000 Lrrk1 leucine-rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:7240710 20211222 OMIM 1308000 Lrrk1 leucine-rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia PMID:25741868|PMID:27055475|PMID:27829680|PMID:28492532|PMID:31571209|PMID:32119750|PMID:8255649 1308000 Lrrk1 leucine-rich repeat kinase 1 gene DOID:13533 osteopetrosis ISS RGD:1317517 D RGD:13592920 20180809 MouseDO 1308000 Lrrk1 leucine-rich repeat kinase 1 gene DOID:630 genetic disease ISO RGD:1317516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308000 Lrrk1 leucine-rich repeat kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317516 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308001 Med16 mediator complex subunit 16 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317518 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1308001 Med16 mediator complex subunit 16 gene DOID:289 endometriosis ISO RGD:1317518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1308001 Med16 mediator complex subunit 16 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1308001 Med16 mediator complex subunit 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308001 Med16 mediator complex subunit 16 gene DOID:630 genetic disease ISO RGD:1317518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317522 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1317522 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1317522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:630 genetic disease ISO RGD:1317522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1308003 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 1308004 Shpk sedoheptulokinase gene DOID:1064 cystinosis ISO RGD:1317524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 1308004 Shpk sedoheptulokinase gene DOID:3613 Canavan disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308004 Shpk sedoheptulokinase gene DOID:630 genetic disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308004 Shpk sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:7240710 20190315 OMIM 1308004 Shpk sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated sedoheptulokinase deficiency PMID:25647543|PMID:25741868|PMID:28492532 1308004 Shpk sedoheptulokinase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1317524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 1308004 Shpk sedoheptulokinase gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1317524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 1308004 Shpk sedoheptulokinase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1317524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 1308008 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:1059 intellectual disability ISO RGD:1317530 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308008 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 1308008 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:630 genetic disease ISO RGD:1317530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308008 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:1602129 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:1602129 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:25741868 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602129 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:1826 epilepsy ISO RGD:1602129 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:4621 holoprosencephaly ISO RGD:1602129 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:630 genetic disease ISO RGD:1602129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1602129 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Preterm intraventricular hemorrhage PMID:25741868 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:9004008 VISSERS-BODMER SYNDROME ISO RGD:1602129 D RGD:7240710 20201223 OMIM 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:9004008 VISSERS-BODMER SYNDROME ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vissers-Bodmer syndrome PMID:25741868|PMID:28492532|PMID:32553196 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1602129 D RGD:7240710 20190731 OMIM 1308009 Cnot1 CCR4-NOT transcription complex, subunit 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CNOT1-Related Disorder | ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1354234 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:35342016|PMID:36195244 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:7240710 20130221 OMIM 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 PMID:17404618|PMID:25741868 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:1059 intellectual disability ISO RGD:1354234 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:4254 osteosclerosis ISO RGD:1354234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:630 genetic disease ISO RGD:1354234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:7240710 20190315 OMIM 1308010 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:8554872 20190122 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 PMID:17997709 1308012 Dennd6b DENN domain containing 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1308012 Dennd6b DENN domain containing 6B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606364 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1308012 Dennd6b DENN domain containing 6B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606364 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1308012 Dennd6b DENN domain containing 6B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606364 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1308012 Dennd6b DENN domain containing 6B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1308012 Dennd6b DENN domain containing 6B gene DOID:1059 intellectual disability ISO RGD:1606364 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308012 Dennd6b DENN domain containing 6B gene DOID:630 genetic disease ISO RGD:1606364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308013 Fam180a family with sequence similarity 180, member A gene DOID:289 endometriosis ISO RGD:1604688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1308013 Fam180a family with sequence similarity 180, member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604688 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308013 Fam180a family with sequence similarity 180, member A gene DOID:630 genetic disease ISO RGD:1604688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308013 Fam180a family with sequence similarity 180, member A gene DOID:684 hepatocellular carcinoma ISO RGD:1604688 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308014 Ints7 integrator complex subunit 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1604023 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308014 Ints7 integrator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308014 Ints7 integrator complex subunit 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604023 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308015 Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:2717 Bloom syndrome ISO RGD:1602696 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308015 Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:630 genetic disease ISO RGD:1602696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308015 Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:9256 colorectal cancer ISO RGD:1602696 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317540 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:1826 epilepsy ISO RGD:1317540 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1317540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:674 cleft palate ISO RGD:1317540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317540 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 1308016 Sim2 SIM bHLH transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 1308017 Rbm7 RNA binding motif protein 7 gene DOID:1059 intellectual disability ISO RGD:1317542 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308017 Rbm7 RNA binding motif protein 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1308017 Rbm7 RNA binding motif protein 7 gene DOID:630 genetic disease ISO RGD:1317542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308017 Rbm7 RNA binding motif protein 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317542 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308019 Tor4a torsin family 4, member A gene DOID:0050777 Joubert syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308019 Tor4a torsin family 4, member A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1308019 Tor4a torsin family 4, member A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1308019 Tor4a torsin family 4, member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308019 Tor4a torsin family 4, member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:19264732|PMID:27891178|PMID:28492532 1308019 Tor4a torsin family 4, member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1308019 Tor4a torsin family 4, member A gene DOID:0081097 Rafiq syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1308019 Tor4a torsin family 4, member A gene DOID:1826 epilepsy ISO RGD:1606545 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308019 Tor4a torsin family 4, member A gene DOID:630 genetic disease ISO RGD:1606545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308019 Tor4a torsin family 4, member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308019 Tor4a torsin family 4, member A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308020 Zswim4 zinc finger, SWIM-type containing 4 gene DOID:630 genetic disease ISO RGD:1345804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308021 Cpne5 copine 5 gene DOID:0050553 JMP syndrome ISO RGD:1317548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1308021 Cpne5 copine 5 gene DOID:630 genetic disease ISO RGD:1317548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308022 Ppp2r5a protein phosphatase 2, regulatory subunit B', alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1317550 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308022 Ppp2r5a protein phosphatase 2, regulatory subunit B', alpha gene DOID:630 genetic disease ISO RGD:1317550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308022 Ppp2r5a protein phosphatase 2, regulatory subunit B', alpha gene DOID:9002884 Emphysema ISO RGD:1317550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 1308022 Ppp2r5a protein phosphatase 2, regulatory subunit B', alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317550 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308023 Ralgapa2 Ral GTPase activating protein catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1343955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308024 Tom1 target of myb1 membrane trafficking protein gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1317553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:25741868 1308024 Tom1 target of myb1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1317553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308024 Tom1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:7240710 20210908 OMIM 1308024 Tom1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity PMID:31263572 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1345092 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:1059 intellectual disability ISO RGD:1345092 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:12177 common variable immunodeficiency ISO RGD:1345092 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:2729 dyskeratosis congenita ISO RGD:1345092 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1345092 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1308025 Slc35g3 solute carrier family 35, member G3 gene DOID:630 genetic disease ISO RGD:1345092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308026 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1308026 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1308026 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1308026 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1308026 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:630 genetic disease ISO RGD:1601725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308027 Cldn10 claudin 10 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317558 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1308027 Cldn10 claudin 10 gene DOID:1790 malignant mesothelioma ISO RGD:1317558 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 1308027 Cldn10 claudin 10 gene DOID:4500 hypokalemia ISO RGD:1317558 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Hypokalemia PMID:25741868 1308027 Cldn10 claudin 10 gene DOID:630 genetic disease ISO RGD:1317558 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1308027 Cldn10 claudin 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317558 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1308027 Cldn10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:7240710 20190315 OMIM 1308027 Cldn10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HELIX syndrome PMID:25741868|PMID:25741903|PMID:28686597|PMID:28771254|PMID:32860008 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:1520 colon carcinoma ISO RGD:1317560 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7898930 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:630 genetic disease ISO RGD:1317560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:7240710 20130221 OMIM 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:7898930 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317560 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 1308028 Pdgfrl platelet-derived growth factor receptor-like gene DOID:9256 colorectal cancer ISO RGD:1317560 D RGD:7240710 20200226 OMIM 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:1059 intellectual disability ISO RGD:1317562 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:12177 common variable immunodeficiency ISO RGD:1317562 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:2729 dyskeratosis congenita ISO RGD:1317562 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:305 carcinoma ISO RGD:1317562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317562 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:630 genetic disease ISO RGD:1317562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10395360|PMID:23238062 20150903 RGD mRNA, protein:increased expression:gastrocnemius 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9000058 Keloid ISO RGD:1317562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1317562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:7240710 20210616 OMIM 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Faundes-Banka syndrome PMID:25741868|PMID:33547280 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317562 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1308029 Eif5a eukaryotic translation initiation factor 5A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317562 D RGD:151356994|PMID:23322277 20220222 RGD 1308030 Glis1 GLIS family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1343612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308031 Ccdc159 coiled-coil domain containing 159 gene DOID:0050990 episodic ataxia type 2 ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1308031 Ccdc159 coiled-coil domain containing 159 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1308031 Ccdc159 coiled-coil domain containing 159 gene DOID:0111254 glutaric acidemia I ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1308031 Ccdc159 coiled-coil domain containing 159 gene DOID:3413 alpha-mannosidosis ISO RGD:3566767 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1308031 Ccdc159 coiled-coil domain containing 159 gene DOID:630 genetic disease ISO RGD:3566767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308032 Nova2 NOVA alternative splicing regulator 2 gene DOID:1059 intellectual disability ISO RGD:1317566 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25167861|PMID:32197073 1308032 Nova2 NOVA alternative splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1317566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308032 Nova2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:7240710 20200812 OMIM 1308032 Nova2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities PMID:25167861|PMID:25741868|PMID:32197073 1308033 Nol6 nucleolar protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308033 Nol6 nucleolar protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308033 Nol6 nucleolar protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308033 Nol6 nucleolar protein 6 gene DOID:630 genetic disease ISO RGD:1317567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308033 Nol6 nucleolar protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308033 Nol6 nucleolar protein 6 gene DOID:9870 galactosemia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308035 Rnf8 ring finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1317571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 1308035 Rnf8 ring finger protein 8 gene DOID:630 genetic disease ISO RGD:1317571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:7240710 20190315 OMIM 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 PMID:25741868|PMID:26307567|PMID:27120463|PMID:27473128|PMID:28492532|PMID:32316234 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0080690 RASopathy ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317575 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110651 long QT syndrome 10 ISO RGD:1317575 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111971 immunodeficiency 18 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111972 immunodeficiency 19 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111973 immunodeficiency 17 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:5419 schizophrenia ISO RGD:1317575 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1317575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:7240710 20211222 OMIM 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonia 32 PMID:25741868|PMID:28492532|PMID:33452836 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9002704 Leukoencephalopathies ISO RGD:1317575 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:26307567|PMID:27120463|PMID:32316234 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317575 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308038 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9007661 Dwarfism ISO RGD:1317575 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1317577 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1317578 D RGD:2325154|PMID:11585747 20100520 RGD 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1317577 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:3068 glioblastoma ISO RGD:1317577 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317577 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317577 D RGD:9586752|PMID:24270264 20141006 RGD protein:increased expression:lung 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1317577 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317577 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317577 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317577 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317578 D RGD:2325153|PMID:12374701 20100520 RGD 1308039 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1317577 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:0050746 mantle cell lymphoma ISO RGD:1317580 D RGD:11038717|PMID:16217763 20160222 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:0050746 mantle cell lymphoma susceptibility ISO RGD:1317580 D RGD:11038718|PMID:15531454 20160222 RGD DNA:SNP:exon:626C>G, 1322A>G (human) 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:0060500 drug allergy ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:11054 urinary bladder cancer ISO RGD:1317580 D RGD:11038717|PMID:16217763 20160222 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:1227 neutropenia ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:14566 disease of cellular proliferation ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:1588 thrombocytopenia ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:219 colon cancer disease_progression IEP D RGD:2325778|PMID:20428773 20160223 RGD mRNA:increased expression:colon 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:2355 anemia ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:299 adenocarcinoma ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:3007 breast ductal carcinoma ISO RGD:1317580 D RGD:2290492|PMID:17011986 20080314 RGD mRNA:decreased expression:breast 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:4362 cervical cancer ISO RGD:1317580 D RGD:2290493|PMID:16271751 20080314 RGD 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:4448 macular degeneration ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21909106 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:4450 renal cell carcinoma ISO RGD:1317580 D RGD:2290491|PMID:17184908 20080314 RGD 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:4450 renal cell carcinoma ISO RGD:1317580 D RGD:2290496|PMID:16865223 20080314 RGD mRNA:increased expression:kidney 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1317580 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs11775256) (human) PMID:21472143|REF_RGD_ID:126925218 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317580 D RGD:11038717|PMID:16217763 20160222 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:574 peripheral nervous system disease ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:630 genetic disease ISO RGD:1317580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:8398 osteoarthritis IEP D RGD:2290500|PMID:14872496 20080314 RGD 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9000117 Esophageal Neoplasms ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9001109 Anorexia ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317580 D RGD:11038717|PMID:16217763 20160222 RGD DNA:missense mutation:cds:p.E228A (c.683A>C) (human) 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:1317580 D RGD:11038718|PMID:15531454 20160222 RGD DNA:SNP: :1322A>G (human) 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9002265 Kidney Neoplasms ISO RGD:1317580 D RGD:2290497|PMID:10693703 20080314 RGD mRNA:decreased expression:kidney 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9002928 Colonic Neoplasms ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17075118 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9004751 Nausea ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317581 D RGD:2290495|PMID:17671220 20080314 RGD 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9006617 Fatigue ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1317580 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9007730 Burns IEP D RGD:2290498|PMID:18019056 20080314 RGD mRNA, protein:increased expression:thymus 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1317580 D RGD:2290494|PMID:16033835 20080314 RGD protein:increased expression:breast 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:9538 multiple myeloma treatment ISO RGD:1317580 D RGD:11038719|PMID:16531263 20160222 RGD 1308041 Tnfrsf10b TNF receptor superfamily member 10b gene DOID:987 alopecia ISO RGD:1317580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652058 1308042 Haghl hydroxyacylglutathione hydrolase-like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1308042 Haghl hydroxyacylglutathione hydrolase-like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1308042 Haghl hydroxyacylglutathione hydrolase-like gene DOID:1826 epilepsy ISO RGD:1317582 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1308042 Haghl hydroxyacylglutathione hydrolase-like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317582 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308042 Haghl hydroxyacylglutathione hydrolase-like gene DOID:630 genetic disease ISO RGD:1317582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308043 Bms1 BMS1 ribosome biogenesis factor gene DOID:0080661 nonsyndromic aplasia cutis congenita ISO RGD:1345685 D RGD:7240710 20200422 OMIM 1308043 Bms1 BMS1 ribosome biogenesis factor gene DOID:2121 ectodermal dysplasia ISO RGD:1345685 D RGD:11554173 20200428 CTD CTD Direct Evidence: marker/mechanism 1308043 Bms1 BMS1 ribosome biogenesis factor gene DOID:2121 ectodermal dysplasia ISO RGD:1345685 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:23785305|PMID:25741868 1308043 Bms1 BMS1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1345685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308044 Lhx4 LIM homeobox 4 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1308044 Lhx4 LIM homeobox 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317585 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308044 Lhx4 LIM homeobox 4 gene DOID:630 genetic disease ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1308044 Lhx4 LIM homeobox 4 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1317585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 1308044 Lhx4 LIM homeobox 4 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1317585 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 1308044 Lhx4 LIM homeobox 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1317585 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1308044 Lhx4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:7240710 20130221 OMIM 1308044 Lhx4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23029363|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532|PMID:34008892 1308044 Lhx4 LIM homeobox 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317585 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308045 Usp12 ubiquitin specific peptidase 12 gene DOID:630 genetic disease ISO RGD:1317587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1317589 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:24218364|PMID:25118025|PMID:27270108 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0111251 Parkinson's disease 21 ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 21 PMID:24218364|PMID:25118025|PMID:27270108|PMID:28492532 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:12712 nephronophthisis ISO RGD:1317589 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:14330 Parkinson's disease ISO RGD:1317589 D RGD:10450845|PMID:25701813 20160122 RGD 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:4990 essential tremor ISO RGD:1317589 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:24218364|PMID:25118025|PMID:27270108 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:630 genetic disease ISO RGD:1317589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:8725 vascular dementia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1317589 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1308046 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9270 alkaptonuria ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1308047 Gsx2 GS homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1602642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1308047 Gsx2 GS homeobox 2 gene DOID:630 genetic disease ISO RGD:1602642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308047 Gsx2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:7240710 20191127 OMIM 1308047 Gsx2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 PMID:25741868|PMID:31412107 1308048 Pithd1 PITH domain containing 1 gene DOID:630 genetic disease ISO RGD:1603974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308048 Pithd1 PITH domain containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1607039 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:1909 melanoma ISO RGD:1607039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1607039 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1308049 Sac3d1 SAC3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1607039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308050 Irf4 interferon regulatory factor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1317594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 1308050 Irf4 interferon regulatory factor 4 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1317594 D RGD:11526155|PMID:18987657 20160810 RGD DNA:translocation 1308050 Irf4 interferon regulatory factor 4 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1317594 D RGD:11530023|PMID:15701085 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1317594 D RGD:11526155|PMID:18987657 20160810 RGD DNA:translocation 1308050 Irf4 interferon regulatory factor 4 gene DOID:0050873 follicular lymphoma severity ISO RGD:1317594 D RGD:11530032|PMID:17296585 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1317594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1308050 Irf4 interferon regulatory factor 4 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1317594 D RGD:11530052|PMID:23355206 20160823 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:0070004 myeloid neoplasm ISO RGD:1317595 D RGD:11530030|PMID:20585039 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:0080600 COVID-19 ISO RGD:1317594 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 1308050 Irf4 interferon regulatory factor 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1317595 D RGD:11526159|PMID:25006123 20160810 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1317595 D RGD:11530020|PMID:21818355 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1317595 D RGD:11530030|PMID:20585039 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:11526158|PMID:21791429 20160810 RGD DNA:missense mutation:exon:p.L116R (human) 1308050 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:11530029|PMID:20731705 20160819 RGD DNA:SNP: :rs872071 (human) 1308050 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:11530031|PMID:20123861 20160819 RGD DNA:SNPs:3' utr:multiple 1308050 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317595 D RGD:11530026|PMID:23926303 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317594 D RGD:11530021|PMID:20090783 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317595 D RGD:11526156|PMID:23897826 20160810 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:1240 leukemia disease_progression ISO RGD:1317594 D RGD:11526157|PMID:23977280 20160810 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317594 D RGD:11530060|PMID:23589561 20160823 RGD protein:decreased expression:heart 1308050 Irf4 interferon regulatory factor 4 gene DOID:3525 middle cerebral artery infarction IEP D RGD:11530061|PMID:25652434 20160823 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:630 genetic disease ISO RGD:1317594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308050 Irf4 interferon regulatory factor 4 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317594 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:25741868 1308050 Irf4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 1308050 Irf4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1317594 D RGD:11526160|PMID:12393648 20160810 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1317594 D RGD:11530024|PMID:12079517 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1317595 D RGD:11530060|PMID:23589561 20160823 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1317594 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 1308050 Irf4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:7240710 20221214 OMIM 1308050 Irf4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8 PMID:18483556|PMID:24267888|PMID:25631878 1308050 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:11526161|PMID:10557056 20160810 RGD DNA:translocation 1308050 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18568025 1308050 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1317594 D RGD:11530019|PMID:17690696 20160819 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma treatment ISO RGD:1317594 D RGD:11530055|PMID:21707574 20160823 RGD 1308050 Irf4 interferon regulatory factor 4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317594 D RGD:11526162|PMID:19897031 20160810 RGD DNA:SNP:intron:rs12203592 (human) 1308053 Poll DNA polymerase lambda gene DOID:0090020 split hand-foot malformation ISO RGD:1317600 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 1308053 Poll DNA polymerase lambda gene DOID:630 genetic disease ISO RGD:1317600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308054 Prkd2 protein kinase D2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1342931 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 1308054 Prkd2 protein kinase D2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 1308054 Prkd2 protein kinase D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1342931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1308054 Prkd2 protein kinase D2 gene DOID:630 genetic disease ISO RGD:1342931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308054 Prkd2 protein kinase D2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 1308055 Nfkbid NFKB inhibitor delta gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:1603004 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 1308055 Nfkbid NFKB inhibitor delta gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1308055 Nfkbid NFKB inhibitor delta gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308055 Nfkbid NFKB inhibitor delta gene DOID:630 genetic disease ISO RGD:1603004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:1059 intellectual disability ISO RGD:1601733 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1601733 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1601733 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601733 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1308056 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1601733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308057 Wnt3a Wnt family member 3A gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 1308057 Wnt3a Wnt family member 3A gene DOID:1459 hypothyroidism IEP D RGD:2303791|PMID:19233274 20100701 RGD mRNA:decreased expression:hippocampus 1308057 Wnt3a Wnt family member 3A gene DOID:1540 parathyroid carcinoma ISO RGD:1317606 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308057 Wnt3a Wnt family member 3A gene DOID:630 genetic disease ISO RGD:1317606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308057 Wnt3a Wnt family member 3A gene DOID:9004009 Reperfusion Injury ISO RGD:1317606 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23875703 1308057 Wnt3a Wnt family member 3A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317607 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1308057 Wnt3a Wnt family member 3A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317607 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1308057 Wnt3a Wnt family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317606 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308057 Wnt3a Wnt family member 3A gene DOID:9970 obesity ISO RGD:1317606 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 1308058 Vezf1 vascular endothelial zinc finger 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1308058 Vezf1 vascular endothelial zinc finger 1 gene DOID:1059 intellectual disability ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308058 Vezf1 vascular endothelial zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308058 Vezf1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:7240710 20230505 OMIM 1308058 Vezf1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO PMID:36657711 1308059 Lurap1l leucine rich adaptor protein 1-like gene DOID:630 genetic disease ISO RGD:1317610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308059 Lurap1l leucine rich adaptor protein 1-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308059 Lurap1l leucine rich adaptor protein 1-like gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317610 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1308061 Thap7 THAP domain containing 7 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1308061 Thap7 THAP domain containing 7 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1308061 Thap7 THAP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1317614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308061 Thap7 THAP domain containing 7 gene DOID:11198 DiGeorge syndrome ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 1308061 Thap7 THAP domain containing 7 gene DOID:11372 megacolon ISO RGD:1317614 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308061 Thap7 THAP domain containing 7 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1308061 Thap7 THAP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1317614 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308061 Thap7 THAP domain containing 7 gene DOID:1826 epilepsy ISO RGD:1317614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308061 Thap7 THAP domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1317614 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308061 Thap7 THAP domain containing 7 gene DOID:612 primary immunodeficiency disease ISO RGD:1317614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1308061 Thap7 THAP domain containing 7 gene DOID:630 genetic disease ISO RGD:1317614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308061 Thap7 THAP domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317614 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308061 Thap7 THAP domain containing 7 gene DOID:9007661 Dwarfism ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1308062 Sgca sarcoglycan, alpha gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317616 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 1308062 Sgca sarcoglycan, alpha gene DOID:0050700 cardiomyopathy ISO RGD:1317616 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31931849 1308062 Sgca sarcoglycan, alpha gene DOID:0060224 atrial fibrillation ISO RGD:1317616 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1308062 Sgca sarcoglycan, alpha gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10942431|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9585331 1308062 Sgca sarcoglycan, alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:7240710 20131030 OMIM 1308062 Sgca sarcoglycan, alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy PMID:10842281|PMID:10942431|PMID:10993494|PMID:11121445|PMID:11475588|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:14595658|PMID:15298081|PMID:15736300|PMID:15833425|PMID:16199547|PMID:16616845|PMID:16778590|PMID:16787395|PMID:17562833|PMID:17576681|PMID:17994539|PMID:18252745|PMID:18285821|PMID:18414213|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19781108|PMID:19798725|PMID:19835634|PMID:20623375|PMID:21031578|PMID:21856579|PMID:22095924|PMID:22303798|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25046369|PMID:25106685|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:26944168|PMID:27066551|PMID:27120200|PMID:27363342|PMID:27906075|PMID:28403181|PMID:28492532|PMID:28687063|PMID:29351619|PMID:29382405|PMID:29970176|PMID:30107846|PMID:30218921|PMID:30345904|PMID:30564623|PMID:30703231|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31061434|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31268554|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:31931849|PMID:32528171|PMID:32875335|PMID:33386810|PMID:7657792|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8528203|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9266733|PMID:9393893|PMID:9455986|PMID:9536098|PMID:9585331 1308062 Sgca sarcoglycan, alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D treatment ISO RGD:1317616 D RGD:13605612|PMID:17653106 20180611 RGD 1308062 Sgca sarcoglycan, alpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1317616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17078022|PMID:19344236|PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7695699|PMID:7942841|PMID:8218237|PMID:9016532|PMID:9295084|PMID:9443882 1308062 Sgca sarcoglycan, alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317616 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 1308062 Sgca sarcoglycan, alpha gene DOID:630 genetic disease ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1308062 Sgca sarcoglycan, alpha gene DOID:767 muscular atrophy IEP D RGD:625642|PMID:12107060 20161006 RGD protein:decreased expression:gastrocnemius 1308062 Sgca sarcoglycan, alpha gene DOID:9884 muscular dystrophy ISO RGD:1317616 D RGD:1599344|PMID:9192266 20070130 RGD 1308062 Sgca sarcoglycan, alpha gene DOID:9884 muscular dystrophy ISO RGD:1317616 D RGD:1599345|PMID:8069911 20070130 RGD 1308062 Sgca sarcoglycan, alpha gene DOID:9884 muscular dystrophy ISO RGD:1317617 D RGD:13605611|PMID:9744877 20180611 RGD 1308063 Tmc3 transmembrane channel-like 3 gene DOID:2717 Bloom syndrome ISO RGD:1352795 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308063 Tmc3 transmembrane channel-like 3 gene DOID:630 genetic disease ISO RGD:1352795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308063 Tmc3 transmembrane channel-like 3 gene DOID:9256 colorectal cancer ISO RGD:1352795 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308064 Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:630 genetic disease ISO RGD:1603190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308064 Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1308066 Shroom1 shroom family member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308066 Shroom1 shroom family member 1 gene DOID:0080600 COVID-19 ISO RGD:1605292 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308066 Shroom1 shroom family member 1 gene DOID:630 genetic disease ISO RGD:1605292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308066 Shroom1 shroom family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605292 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308066 Shroom1 shroom family member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308067 Ccm2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18154020 1308067 Ccm2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25525273|PMID:25741868|PMID:28492532 1308067 Ccm2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:7240710 20130425 OMIM 1308067 Ccm2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088123|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27153162|PMID:27561926|PMID:27792856|PMID:28492532|PMID:28655553|PMID:30161288|PMID:32860008|PMID:35307828|PMID:9536098 1308067 Ccm2 CCM2 scaffold protein gene DOID:483 cavernous hemangioma ISO RGD:1317623 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:25741868 1308067 Ccm2 CCM2 scaffold protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317623 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308067 Ccm2 CCM2 scaffold protein gene DOID:630 genetic disease ISO RGD:1317623 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1308067 Ccm2 CCM2 scaffold protein gene DOID:865 vasculitis ISO RGD:1317623 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 1308067 Ccm2 CCM2 scaffold protein gene DOID:8725 vascular dementia ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 1308067 Ccm2 CCM2 scaffold protein gene DOID:9003443 Central Nervous System Vascular Malformations susceptibility ISO RGD:1317623 D RGD:1600689|PMID:17160895 20070322 RGD DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 1308068 Zfp346 zinc finger protein 346 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1308068 Zfp346 zinc finger protein 346 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308068 Zfp346 zinc finger protein 346 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317625 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1308068 Zfp346 zinc finger protein 346 gene DOID:630 genetic disease ISO RGD:1317625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308068 Zfp346 zinc finger protein 346 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317625 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1308068 Zfp346 zinc finger protein 346 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1308069 Osbp oxysterol binding protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308069 Osbp oxysterol binding protein gene DOID:1059 intellectual disability ISO RGD:1317627 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308069 Osbp oxysterol binding protein gene DOID:12206 dengue hemorrhagic fever ISO RGD:1317627 D RGD:41404654|PMID:28241052 20210129 RGD mRNA:increased expression:peripheral blood mononuclear cell 1308069 Osbp oxysterol binding protein gene DOID:630 genetic disease ISO RGD:1317627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308069 Osbp oxysterol binding protein gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2291921|PMID:18230613 20210129 RGD protein:increased tyrosine phosphorylation:aorta 1308069 Osbp oxysterol binding protein gene DOID:9005775 Perinatal Asphyxia IEP D RGD:156431056|PMID:23625371 20230302 RGD 1308069 Osbp oxysterol binding protein gene DOID:9007661 Dwarfism ISO RGD:1317627 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1308069 Osbp oxysterol binding protein gene DOID:9256 colorectal cancer ISO RGD:1317627 D RGD:41404653|PMID:21999571 20210129 RGD 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317629 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1317629 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:24033266|PMID:25741868|PMID:28492532 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:7240710 20140911 OMIM 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29600982|PMID:30985222|PMID:31898847 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0110271 cataract 23 ISO RGD:1317629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:2223 platelet storage pool deficiency ISS RGD:1317630 D RGD:13592920 20180518 MouseDO OMIM:185050 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:11353873|PMID:23563589 20160726 RGD DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022) 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:11354897|PMID:11836498 20160728 RGD DNA:nonsense,frameshift,insertion mutations:cds: 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:1599546|PMID:12664304 20070207 RGD 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12664304|PMID:24033266|PMID:25741868|PMID:26575419|PMID:28492532|PMID:31898847 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1317629 D RGD:11353873|PMID:23563589 20160726 RGD DNA:SNPs, haplotype:multiple: 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:630 genetic disease ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836498|PMID:12664304|PMID:15108212|PMID:28492532 1308070 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:9001386 Albinism ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29600982 1308071 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317631 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1308071 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:14791 Leber congenital amaurosis ISS RGD:1317632 D RGD:13592920 20180518 MouseDO 1308071 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:1969 cerebral palsy ISO RGD:1317631 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 1308071 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:630 genetic disease ISO RGD:1317631 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308071 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1317631 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 1308072 Dhx15 DEAH-box helicase 15 gene DOID:630 genetic disease ISO RGD:1317633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308072 Dhx15 DEAH-box helicase 15 gene DOID:9119 acute myeloid leukemia ISO RGD:1317633 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:27798625|PMID:29163777 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:3652 Leigh disease ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:630 genetic disease ISO RGD:1317635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308073 Edf1 endothelial differentiation-related factor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308074 Plxna4 plexin A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602663 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308074 Plxna4 plexin A4 gene DOID:630 genetic disease ISO RGD:1602663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308075 Tekt4 tektin 4 gene DOID:630 genetic disease ISO RGD:1604519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308076 Bud13 BUD13 homolog gene DOID:1059 intellectual disability ISO RGD:1606207 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308076 Bud13 BUD13 homolog gene DOID:630 genetic disease ISO RGD:1606207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308076 Bud13 BUD13 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606207 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308076 Bud13 BUD13 homolog gene DOID:9007661 Dwarfism ISO RGD:1606207 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308080 Mtch2 mitochondrial carrier 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1308080 Mtch2 mitochondrial carrier 2 gene DOID:0080600 COVID-19 ISO RGD:1317645 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308080 Mtch2 mitochondrial carrier 2 gene DOID:1059 intellectual disability ISO RGD:1317645 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308080 Mtch2 mitochondrial carrier 2 gene DOID:630 genetic disease ISO RGD:1317645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308080 Mtch2 mitochondrial carrier 2 gene DOID:9970 obesity ISO RGD:1317645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 1308081 Papss1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:0080600 COVID-19 ISO RGD:1317646 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308081 Papss1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1317646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308082 Prelid1 PRELI domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1308082 Prelid1 PRELI domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1604018 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308082 Prelid1 PRELI domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308082 Prelid1 PRELI domain containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1308082 Prelid1 PRELI domain containing 1 gene DOID:630 genetic disease ISO RGD:1604018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308082 Prelid1 PRELI domain containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604018 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1308082 Prelid1 PRELI domain containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604018 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1308083 Arl11 ADP-ribosylation factor like GTPase 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317649 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308083 Arl11 ADP-ribosylation factor like GTPase 11 gene DOID:1059 intellectual disability ISO RGD:1317649 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308083 Arl11 ADP-ribosylation factor like GTPase 11 gene DOID:630 genetic disease ISO RGD:1317649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308083 Arl11 ADP-ribosylation factor like GTPase 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308083 Arl11 ADP-ribosylation factor like GTPase 11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17079447 1308084 Abhd10 abhydrolase domain containing 10, depalmitoylase gene DOID:630 genetic disease ISO RGD:1346003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:13450938|PMID:26708157 20171113 RGD DNA:mutation:cds:c.2399G>A,p.G800E(human) 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PMID:25741868|PMID:26467025|PMID:28492532 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1317652 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: GOULD SYNDROME 1 PMID:25741868|PMID:26467025|PMID:28492532 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1317652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Porencephaly 2 PMID:16199547|PMID:22209246|PMID:22209247|PMID:22333902|PMID:22914737|PMID:24001601|PMID:24390199|PMID:24646874|PMID:25326635|PMID:25653287|PMID:25741868|PMID:27794444|PMID:28492532|PMID:30315939|PMID:30413629|PMID:30859180|PMID:31069529|PMID:32732225|PMID:33527515|PMID:33912663|PMID:34531397 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 susceptibility ISO RGD:1317652 D RGD:7240710 20230517 OMIM 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:1184 nephrotic syndrome ISO RGD:1317652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:1826 epilepsy ISO RGD:1317652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317652 D RGD:13450936|PMID:28642624 20171113 RGD DNA:SNP: :rs72657934(human) 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:1969 cerebral palsy ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:22209246|PMID:22209247|PMID:22333902|PMID:24001601|PMID:25741868|PMID:27794444|PMID:28492532|PMID:33912663|PMID:34531397 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:2222 factor X deficiency ISO RGD:1317652 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:2661 myoepithelioma ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1317652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:630 genetic disease ISO RGD:1317652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22333902|PMID:25741868|PMID:28492532|PMID:30315939|PMID:30413629 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:865 vasculitis ISO RGD:1317652 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:8725 vascular dementia ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1317652 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:25741868|PMID:33527515 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:22209247|PMID:22914737|PMID:24390199|PMID:24646874|PMID:25653287|PMID:25741868|PMID:28492532 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage susceptibility ISO RGD:1317652 D RGD:13450933|PMID:28954878 20171113 RGD DNA:SNPs:: 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage susceptibility ISO RGD:1317652 D RGD:7240710 20230517 OMIM 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9002788 Lacunar Strokes susceptibility ISO RGD:1317652 D RGD:13450933|PMID:28954878 20171113 RGD DNA:SNPs:: 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317652 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1317652 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9005077 Joint Instability ISO RGD:1317652 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 1308085 Col4a2 collagen type IV alpha 2 chain gene DOID:9007096 Stroke ISO RGD:1317652 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1308086 Polr3e RNA polymerase III subunit E gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1317654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 1308086 Polr3e RNA polymerase III subunit E gene DOID:12849 autistic disorder ISO RGD:1317654 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308086 Polr3e RNA polymerase III subunit E gene DOID:5419 schizophrenia ISO RGD:1317654 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308086 Polr3e RNA polymerase III subunit E gene DOID:630 genetic disease ISO RGD:1317654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308087 Ap5m1 adaptor related protein complex 5 subunit mu 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1308087 Ap5m1 adaptor related protein complex 5 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1317656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308088 H2bc8 H2B clustered histone 8 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346575 D RGD:11554173 20190806 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1308088 H2bc8 H2B clustered histone 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346575 D RGD:11554173 20190806 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 1308089 Plekhg3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:589 congenital hemolytic anemia ISO RGD:1346378 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 1308089 Plekhg3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:630 genetic disease ISO RGD:1346378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308091 E2f8 E2F transcription factor 8 gene DOID:1059 intellectual disability ISO RGD:1605946 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308091 E2f8 E2F transcription factor 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605946 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1308091 E2f8 E2F transcription factor 8 gene DOID:630 genetic disease ISO RGD:1605946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308091 E2f8 E2F transcription factor 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1605946 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308091 E2f8 E2F transcription factor 8 gene DOID:9000918 Disease Progression ISO RGD:1605946 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1308091 E2f8 E2F transcription factor 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605946 D RGD:11554173 20190115 CTD CTD Direct Evidence: marker/mechanism PMID:27683099 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1317663 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:7240710 20150610 OMIM 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q PMID:16199547|PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:28492532|PMID:29669943 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:7240710 20140903 OMIM 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria PMID:16199547|PMID:17576681|PMID:23141293|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25860818|PMID:26141459|PMID:27582484|PMID:28454995|PMID:28492532|PMID:29127259|PMID:29669943|PMID:29752936|PMID:29858556|PMID:30896807|PMID:32005694|PMID:32160276|PMID:32303640|PMID:32695416|PMID:32860008|PMID:33369814|PMID:34169998|PMID:8069629|PMID:9536098 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532|PMID:29127259 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:574 peripheral nervous system disease ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23141293|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:27582484|PMID:28454995|PMID:28492532|PMID:29752936|PMID:29858556|PMID:32160276|PMID:32303640|PMID:32695416|PMID:32860008|PMID:33369814|PMID:8069629|PMID:9536098 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:870 neuropathy ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1308092 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317663 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308093 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:10283 prostate cancer ISO RGD:1603998 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1308093 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:2661 myoepithelioma ISO RGD:1603998 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1308093 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1603998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1308093 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:630 genetic disease ISO RGD:1603998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308093 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603998 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308094 Tbx15 T-box transcription factor 15 gene DOID:0050722 PHGDH deficiency ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 1308094 Tbx15 T-box transcription factor 15 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 1308094 Tbx15 T-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1317666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308094 Tbx15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 1308094 Tbx15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:7240710 20170510 OMIM 1308094 Tbx15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pelviscapular dysplasia PMID:19068278|PMID:25741868|PMID:28492532 1308094 Tbx15 T-box transcription factor 15 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1308094 Tbx15 T-box transcription factor 15 gene DOID:9006257 Growth Disorders ISO RGD:1317666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 1308094 Tbx15 T-box transcription factor 15 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 1308095 Btf3 basic transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308095 Btf3 basic transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317667 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308096 Cuedc2 CUE domain containing 2 gene DOID:630 genetic disease ISO RGD:1317669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308097 Actn2 actinin alpha 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317671 D RGD:13506947|PMID:11078270 20180226 RGD DNA:polymorphism: : 1308097 Actn2 actinin alpha 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25224718|PMID:25741868|PMID:28492532|PMID:31956495 1308097 Actn2 actinin alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28301460|PMID:28492532|PMID:28771489|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:30086531|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31506931|PMID:31983221|PMID:32527005|PMID:32880476|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intrinsic cardiomyopathy PMID:20474083|PMID:25741868|PMID:31333075|PMID:32973354 1308097 Actn2 actinin alpha 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317671 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29247119|PMID:30615648|PMID:30775854|PMID:31110529|PMID:31333075|PMID:31568572 1308097 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317671 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 1308097 Actn2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:7240710 20130425 OMIM 1308097 Actn2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:35656879|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:34935411|PMID:35656879|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317671 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25224718|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:28492532|PMID:30959811|PMID:31513939|PMID:32880476|PMID:32931854|PMID:35656879 1308097 Actn2 actinin alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14567970|PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27896284|PMID:28492532|PMID:32931854|PMID:35656879 1308097 Actn2 actinin alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317671 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:2843 long QT syndrome ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27532257|PMID:28492532|PMID:29247119 1308097 Actn2 actinin alpha 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317671 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1308097 Actn2 actinin alpha 2 gene DOID:6000 congestive heart failure ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:630 genetic disease ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26084686|PMID:28492532|PMID:32880476 1308097 Actn2 actinin alpha 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20022194|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:28771489|PMID:32527005 1308097 Actn2 actinin alpha 2 gene DOID:893 Wilson disease ISO RGD:1317671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:24082139|PMID:25326637|PMID:25741868|PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317671 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 1308097 Actn2 actinin alpha 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:34540771 1308097 Actn2 actinin alpha 2 gene DOID:9000727 Syncope ISO RGD:1317671 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Syncope PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:28492532|PMID:30959811 1308097 Actn2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:7240710 20191127 OMIM 1308097 Actn2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30847666|PMID:30900782|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32527005|PMID:32746448|PMID:34935411|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:9004417 Congenital Myopathy 8 ISO RGD:1317671 D RGD:7240710 20200115 OMIM 1308097 Actn2 actinin alpha 2 gene DOID:9004417 Congenital Myopathy 8 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30701273|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32527005|PMID:32746448|PMID:34935411|PMID:9536098 1308097 Actn2 actinin alpha 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1317671 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 1308097 Actn2 actinin alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317671 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308098 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1308098 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1317673 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308098 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:630 genetic disease ISO RGD:1317673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308098 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:9256 colorectal cancer ISO RGD:1317673 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308101 Cntln centlein gene DOID:13938 amenorrhea ISO RGD:1317678 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1308101 Cntln centlein gene DOID:630 genetic disease ISO RGD:1317678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308102 Plac8 placenta associated 8 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317680 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1308102 Plac8 placenta associated 8 gene DOID:10603 glucose intolerance IEP D RGD:10755343|PMID:26296322 20160907 RGD associated with obesity 1308102 Plac8 placenta associated 8 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1317681 D RGD:40924563|PMID:17404296 20210113 RGD 1308102 Plac8 placenta associated 8 gene DOID:630 genetic disease ISO RGD:1317680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308102 Plac8 placenta associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1317680 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308102 Plac8 placenta associated 8 gene DOID:9000371 influenza A ISO RGD:1317681 D RGD:40925929|PMID:32639988 20210122 RGD 1308102 Plac8 placenta associated 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308102 Plac8 placenta associated 8 gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1317681 D RGD:40924563|PMID:17404296 20210113 RGD 1308102 Plac8 placenta associated 8 gene DOID:9007692 Insulin Resistance IEP D RGD:10755343|PMID:26296322 20160907 RGD associated with obesity 1308102 Plac8 placenta associated 8 gene DOID:9008090 Chlamydiaceae Infections exacerbates ISO RGD:1317681 D RGD:9068941 20210205 RGD PMID:22238459|REF_RGD_ID:40925930 1308102 Plac8 placenta associated 8 gene DOID:9008090 Chlamydiaceae Infections severity ISO RGD:1317681 D RGD:40925930|PMID:22238459 20210122 RGD 1308103 Usp39 ubiquitin specific peptidase 39 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1317682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1308103 Usp39 ubiquitin specific peptidase 39 gene DOID:630 genetic disease ISO RGD:1317682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308103 Usp39 ubiquitin specific peptidase 39 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317682 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 1308103 Usp39 ubiquitin specific peptidase 39 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317682 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 1308104 Slc25a29 solute carrier family 25 member 29 gene DOID:0080600 COVID-19 ISO RGD:1317684 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308104 Slc25a29 solute carrier family 25 member 29 gene DOID:630 genetic disease ISO RGD:1317684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308104 Slc25a29 solute carrier family 25 member 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1308105 Ksr1 kinase suppressor of ras 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317686 D RGD:127229932|PMID:24909178 20210603 RGD 1308105 Ksr1 kinase suppressor of ras 1 gene DOID:3458 breast adenocarcinoma severity ISO RGD:1317686 D RGD:127229932|PMID:24909178 20210603 RGD 1308105 Ksr1 kinase suppressor of ras 1 gene DOID:630 genetic disease ISO RGD:1317686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308106 Spindoc spindlin interactor and repressor of chromatin binding gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308106 Spindoc spindlin interactor and repressor of chromatin binding gene DOID:1059 intellectual disability ISO RGD:1604233 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308106 Spindoc spindlin interactor and repressor of chromatin binding gene DOID:3070 high grade glioma ISO RGD:1604233 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1308107 Ldhd lactate dehydrogenase D gene DOID:2565 macular corneal dystrophy ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 1308107 Ldhd lactate dehydrogenase D gene DOID:607 paraplegia ISO RGD:1317689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1308107 Ldhd lactate dehydrogenase D gene DOID:630 genetic disease ISO RGD:1317689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308107 Ldhd lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic aciduria due to D-lactic acid PMID:25741868|PMID:30931947|PMID:31638601 1308107 Ldhd lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid susceptibility ISO RGD:1317689 D RGD:7240710 20200520 OMIM 1308108 Cabp5 calcium binding protein 5 gene DOID:630 genetic disease ISO RGD:1317691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308109 Thap3 THAP domain containing 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308109 Thap3 THAP domain containing 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1308109 Thap3 THAP domain containing 3 gene DOID:630 genetic disease ISO RGD:1351040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308109 Thap3 THAP domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351040 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308111 Otud7b OTU deubiquitinase 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308111 Otud7b OTU deubiquitinase 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308111 Otud7b OTU deubiquitinase 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308111 Otud7b OTU deubiquitinase 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1352780 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308111 Otud7b OTU deubiquitinase 7B gene DOID:5812 MHC class II deficiency ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308111 Otud7b OTU deubiquitinase 7B gene DOID:630 genetic disease ISO RGD:1352780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308111 Otud7b OTU deubiquitinase 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352780 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308113 Emc9 ER membrane protein complex subunit 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1308113 Emc9 ER membrane protein complex subunit 9 gene DOID:630 genetic disease ISO RGD:1317698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308113 Emc9 ER membrane protein complex subunit 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317698 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1308113 Emc9 ER membrane protein complex subunit 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:7240710 20190315 OMIM 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency PMID:12555941|PMID:18926513|PMID:1909402|PMID:25741868|PMID:28492532 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1317700 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:1793 pancreatic cancer ISO RGD:1317700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317700 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:630 genetic disease ISO RGD:1317700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:6364 migraine ISO RGD:1317700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 1308114 Sugct succinylCoA:glutarate-CoA transferase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317700 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1308116 Nim1k NIM1 serine/threonine protein kinase gene DOID:630 genetic disease ISO RGD:1604515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308117 C15h8orf58 similar to human chromosome 8 open reading frame 58 gene DOID:630 genetic disease ISO RGD:1604880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308117 C15h8orf58 similar to human chromosome 8 open reading frame 58 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1308118 Sh3bgrl3 SH3 domain binding glutamate-rich protein like 3 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1317706 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1308118 Sh3bgrl3 SH3 domain binding glutamate-rich protein like 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1317706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1308118 Sh3bgrl3 SH3 domain binding glutamate-rich protein like 3 gene DOID:630 genetic disease ISO RGD:1317706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308118 Sh3bgrl3 SH3 domain binding glutamate-rich protein like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308119 Amn1 antagonist of mitotic exit network 1 homolog gene DOID:630 genetic disease ISO RGD:1606942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308120 Htra3 HtrA serine peptidase 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354015 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1308120 Htra3 HtrA serine peptidase 3 gene DOID:630 genetic disease ISO RGD:1354015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308121 Zfp207 zinc finger protein 207 gene DOID:630 genetic disease ISO RGD:1317710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308122 Gna14 G protein subunit alpha 14 gene DOID:0050766 choreaacanthocytosis ISO RGD:1317712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:15918062 1308122 Gna14 G protein subunit alpha 14 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 1308122 Gna14 G protein subunit alpha 14 gene DOID:630 genetic disease ISO RGD:1317712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308122 Gna14 G protein subunit alpha 14 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:1317712 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Kaposiform hemangioendothelioma PMID:25741868|PMID:27476652 1308122 Gna14 G protein subunit alpha 14 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308122 Gna14 G protein subunit alpha 14 gene DOID:9002189 High Myopia ISO RGD:1317712 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1308123 Zfp414 zinc finger protein 414 gene DOID:0080490 mucolipidosis type IV ISO RGD:1603942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1308123 Zfp414 zinc finger protein 414 gene DOID:12849 autistic disorder ISO RGD:1603942 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308123 Zfp414 zinc finger protein 414 gene DOID:630 genetic disease ISO RGD:1603942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308124 Nhsl1 NHS-like 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1308124 Nhsl1 NHS-like 1 gene DOID:630 genetic disease ISO RGD:1349811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308125 Slc35f5 solute carrier family 35, member F5 gene DOID:630 genetic disease ISO RGD:1317716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308126 Mzt2b mitotic spindle organizing protein 2B gene DOID:630 genetic disease ISO RGD:1603721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308126 Mzt2b mitotic spindle organizing protein 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1603721 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1308126 Mzt2b mitotic spindle organizing protein 2B gene DOID:9003415 Keratoconus 9 ISO RGD:1603721 D RGD:8554872 20180522 ClinVar ClinVar Annotator: match by term: Keratoconus 9 PMID:29051577 1308127 Cacul1 CDK2-associated, cullin domain 1 gene DOID:630 genetic disease ISO RGD:1317719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308127 Cacul1 CDK2-associated, cullin domain 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317719 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1308128 Qpctl glutaminyl-peptide cyclotransferase-like gene DOID:630 genetic disease ISO RGD:1350934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308129 Cggbp1 CGG triplet repeat binding protein 1 gene DOID:630 genetic disease ISO RGD:1317722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308130 Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:0080690 RASopathy ISO RGD:1317724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1308130 Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317724 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308130 Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:630 genetic disease ISO RGD:1317724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308131 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1317726 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 1308131 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:2717 Bloom syndrome ISO RGD:1317726 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308131 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1308131 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3627 aortic aneurysm ISO RGD:1317726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:28492532|PMID:29689197 1308131 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1317726 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308131 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer ISO RGD:1317726 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308133 Fam135b family with sequence similarity 135, member B gene DOID:630 genetic disease ISO RGD:1606292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308134 RGD1308134 similar to RIKEN cDNA 1110020A23 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606738 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1308134 RGD1308134 similar to RIKEN cDNA 1110020A23 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1308134 RGD1308134 similar to RIKEN cDNA 1110020A23 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308134 RGD1308134 similar to RIKEN cDNA 1110020A23 gene DOID:12177 common variable immunodeficiency ISO RGD:1606738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1308134 RGD1308134 similar to RIKEN cDNA 1110020A23 gene DOID:2729 dyskeratosis congenita ISO RGD:1606738 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27564575|PMID:27612026|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28166811|PMID:28362824|PMID:28492532|PMID:28832565|PMID:29336362|PMID:29482223|PMID:30903322|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32397312|PMID:5964029|PMID:9536098 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27564575|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1317732 D RGD:11554173 20180529 CTD CTD Direct Evidence: marker/mechanism 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brunzell syndrome | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes PMID:11479539|PMID:18093937|PMID:23564749|PMID:25741868|PMID:26467025|PMID:27452399|PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050788 proximal symphalangism ISO RGD:1317732 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:1317732 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:7240710 20130221 OMIM 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23553728|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:7240710 20180523 OMIM 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes PMID:11479539|PMID:11916958|PMID:12030893|PMID:12362029|PMID:14557463|PMID:15126564|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18093937|PMID:19041432|PMID:19226263|PMID:19762912|PMID:20301391|PMID:21126715|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24778225|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:27144933|PMID:27452399|PMID:27612026|PMID:27632409|PMID:28492532|PMID:28916377|PMID:29478747|PMID:30903322|PMID:31770241|PMID:32041611|PMID:32792356|PMID:9536098 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111203 distal hereditary motor neuronopathy type 5 ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 PMID:14981520|PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:24604904|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: HMN 5A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:23989774|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:1059 intellectual disability ISO RGD:1317732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:23142943|PMID:24604904|PMID:25487175|PMID:26815532|PMID:27549087|PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:12336 male infertility ISS RGD:1317733 D RGD:13592920 20180518 MouseDO 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14227 azoospermia IMP D RGD:11085488|PMID:25934999 20190109 RGD 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14228 oligospermia ISO RGD:1317732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:1600602|PMID:13680364 20070319 RGD SPG17, OMIM:270685, DNA:point mutation:exon:N88S 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28832565|PMID:30004997|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:3459 breast carcinoma ISO RGD:1317732 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Breast carcinoma 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:574 peripheral nervous system disease ISO RGD:1317732 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:630 genetic disease ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479539|PMID:12362029|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:28492532|PMID:29336362|PMID:30150100|PMID:32041611|PMID:32397312|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:811 lipodystrophy ISO RGD:1317732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:811 lipodystrophy ISO RGD:1317732 D RGD:1600601|PMID:11479539 20070319 RGD CGL2, OMIM:269700, DNA:frameshift:exon 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:811 lipodystrophy ISO RGD:1317732 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:25741868 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:870 neuropathy ISO RGD:1317732 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001239 Delayed Puberty ISO RGD:1317732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001513 Asthenozoospermia ISO RGD:1317732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1317732 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006205 Animal Disease Models ISO RGD:1317732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006235 Distal Hereditary Motor Neuronopathy Type 5C ISO RGD:1317732 D RGD:7240710 20201223 OMIM 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006235 Distal Hereditary Motor Neuronopathy Type 5C ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C PMID:11479539|PMID:12362029|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26072926|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:32397312|PMID:5964029 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007692 Insulin Resistance IMP D RGD:11085488|PMID:25934999 20190109 RGD 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:7240710 20150121 OMIM 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy PMID:11479539|PMID:18093937|PMID:19226263|PMID:23564749|PMID:24024128|PMID:25741868|PMID:27452399|PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30004997 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532 1308135 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9352 type 2 diabetes mellitus no_association IAGP D RGD:1600600|PMID:12584444 20070319 RGD 1308136 Nphp1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1308136 Nphp1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 1308136 Nphp1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 1308136 Nphp1 nephrocystin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716 1308136 Nphp1 nephrocystin 1 gene DOID:0050795 cone dystrophy ISO RGD:1317734 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 1308136 Nphp1 nephrocystin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317734 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 1308136 Nphp1 nephrocystin 1 gene DOID:0080205 CAKUT ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 1308136 Nphp1 nephrocystin 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317734 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 PMID:24746959|PMID:25741868|PMID:28492532 1308136 Nphp1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:7240710 20130221 OMIM 1308136 Nphp1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:7246903|PMID:17409309 20130620 RGD associated with Kidney Diseases, Cystic;DNA:mutation 1308136 Nphp1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 1308136 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:11537341|PMID:18076122 20160929 RGD DNA:mutations:exon, intron:multiple 1308136 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7240710 20130221 OMIM 1308136 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7246900|PMID:22982934 20130620 RGD DNA:deletion: : 1308136 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7246902|PMID:21258817 20130620 RGD DNA:deletion: : 1308136 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7246904|PMID:16762963 20130620 RGD DNA:missense mutations:cds:p.R586X (human) 1308136 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:33193692|PMID:33532864|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 1308136 Nphp1 nephrocystin 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 1308136 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:11065524|PMID:17855640 20160929 RGD DNA:deletions, nonsense mutations:cds:multiple 1308136 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 1308136 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 1308136 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 1308136 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 1308136 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 1308136 Nphp1 nephrocystin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 1308136 Nphp1 nephrocystin 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317734 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532 1308136 Nphp1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317734 D RGD:11352646|PMID:24746959 20160929 RGD 1308136 Nphp1 nephrocystin 1 gene DOID:557 kidney disease ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1308136 Nphp1 nephrocystin 1 gene DOID:630 genetic disease ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16762963|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:25268133|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:28492532|PMID:28624958|PMID:30773290|PMID:31822006|PMID:33193692 1308136 Nphp1 nephrocystin 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1317734 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:24746959|PMID:25741868|PMID:28492532 1308136 Nphp1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:7240710 20190327 OMIM 1308136 Nphp1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 1308137 Gmnn geminin, DNA replication inhibitor gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1317736 D RGD:11554173 20190430 CTD CTD Direct Evidence: marker/mechanism 1308137 Gmnn geminin, DNA replication inhibitor gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1317736 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14973488|PMID:26637980 1308137 Gmnn geminin, DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:7240710 20190424 OMIM 1308137 Gmnn geminin, DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 PMID:11477602|PMID:14973488|PMID:25741868|PMID:26637980 1308137 Gmnn geminin, DNA replication inhibitor gene DOID:630 genetic disease ISO RGD:1317736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308137 Gmnn geminin, DNA replication inhibitor gene DOID:684 hepatocellular carcinoma ISO RGD:1317736 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308138 Zpld1 zona pellucida-like domain containing 1 gene DOID:630 genetic disease ISO RGD:1606973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308139 Ncbp3 nuclear cap binding subunit 3 gene DOID:3613 Canavan disease ISO RGD:1604808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 1308139 Ncbp3 nuclear cap binding subunit 3 gene DOID:630 genetic disease ISO RGD:1604808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308141 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098 1308141 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:7240710 20140911 OMIM 1308141 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 20 PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:32111882|PMID:9536098 1308141 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1602080 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:25741868|PMID:28492532 1308141 Odad1 outer dynein arm docking complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308141 Odad1 outer dynein arm docking complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:24033266|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:31213628|PMID:32111882|PMID:9536098 1308142 Chst1 carbohydrate sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1317743 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308142 Chst1 carbohydrate sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1317743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308144 Ergic3 ERGIC and golgi 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1317746 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 1308144 Ergic3 ERGIC and golgi 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317746 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 1308144 Ergic3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1317747 D RGD:153323314|PMID:27588471 20220812 RGD 1308144 Ergic3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317746 D RGD:151708716|PMID:23374247 20220812 RGD mRNA,protein:increased expression:lung (human) 1308144 Ergic3 ERGIC and golgi 3 gene DOID:630 genetic disease ISO RGD:1317746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308144 Ergic3 ERGIC and golgi 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317746 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 1308144 Ergic3 ERGIC and golgi 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1317746 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 1308145 Phf13 PHD finger protein 13 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308145 Phf13 PHD finger protein 13 gene DOID:630 genetic disease ISO RGD:1317748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308145 Phf13 PHD finger protein 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317748 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0060581 Noonan syndrome 3 ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:25741868|PMID:28492532 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1317750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:27763634|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892|PMID:9536098 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080691 Noonan syndrome-like disorder with loose anagen hair ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:11071098|PMID:23918763 20230111 RGD Noonan syndrome-like disorder with loose anagen hair 1; 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:11071178|PMID:20882035 20230111 RGD DNA:mutation:cds:c.4A>G (p.S2G)(human) 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:155804265|PMID:35348676 20230112 RGD DNA:missense mutations:cds:multiple (human) 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:7240710 20130221 OMIM 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:1059 intellectual disability ISO RGD:1317750 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:3310 atopic dermatitis ISO RGD:1317750 D RGD:9068941 20230112 RGD associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) PMID:20882035|REF_RGD_ID:11071178 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:3490 Noonan syndrome ISO RGD:1317750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19684605 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:3490 Noonan syndrome ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:33673806|PMID:34008892 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:421 hair disease ISO RGD:1317750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19684605 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:630 genetic disease ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:9003104 Intracranial Hemorrhages IEP D RGD:155804268|PMID:34368865 20230112 RGD mRNA:decreased expression:brain: 1308146 Shoc2 SHOC2 leucine-rich repeat scaffold protein gene DOID:9008386 Hydrops Fetalis ISO RGD:1317750 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783 1308147 RGD1308147 similar to expressed sequence AW209491 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317752 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308147 RGD1308147 similar to expressed sequence AW209491 gene DOID:630 genetic disease ISO RGD:1317752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308149 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308149 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:630 genetic disease ISO RGD:1317755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308149 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317755 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308149 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308150 Zfp691 zinc finger protein 691 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603045 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308150 Zfp691 zinc finger protein 691 gene DOID:630 genetic disease ISO RGD:1603045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308151 Cfap52 cilia and flagella associated protein 52 gene DOID:630 genetic disease ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308151 Cfap52 cilia and flagella associated protein 52 gene DOID:758 situs inversus ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis PMID:16199547|PMID:25741868|PMID:28492532|PMID:33139725 1308151 Cfap52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:7240710 20211110 OMIM 1308151 Cfap52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility PMID:25469542|PMID:25741868|PMID:33139725 1308152 Creb3l3 cAMP responsive element binding protein 3-like 3 gene DOID:13938 amenorrhea ISO RGD:1317760 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1308152 Creb3l3 cAMP responsive element binding protein 3-like 3 gene DOID:630 genetic disease ISO RGD:1317760 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21666694|PMID:28106320|PMID:28492532 1308152 Creb3l3 cAMP responsive element binding protein 3-like 3 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:21666694|PMID:25741868|PMID:28492532|PMID:31619059|PMID:32041611 1308152 Creb3l3 cAMP responsive element binding protein 3-like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:7240710 20210818 OMIM 1308152 Creb3l3 cAMP responsive element binding protein 3-like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA 2 PMID:21666694|PMID:25741868|PMID:26427795|PMID:28492532 1308153 Gins3 GINS complex subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308153 Gins3 GINS complex subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308153 Gins3 GINS complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308153 Gins3 GINS complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308154 Xxylt1 xyloside xylosyltransferase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1345440 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1308154 Xxylt1 xyloside xylosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1345440 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308154 Xxylt1 xyloside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308155 Meltf melanotransferrin gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1317764 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1308155 Meltf melanotransferrin gene DOID:12849 autistic disorder ISO RGD:1317764 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308155 Meltf melanotransferrin gene DOID:1909 melanoma ISO RGD:1317764 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:16704991 1308155 Meltf melanotransferrin gene DOID:5419 schizophrenia ISO RGD:1317764 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308155 Meltf melanotransferrin gene DOID:630 genetic disease ISO RGD:1317764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308157 Cul1 cullin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1308157 Cul1 cullin 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 1308157 Cul1 cullin 1 gene DOID:14731 Weaver syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 1308157 Cul1 cullin 1 gene DOID:630 genetic disease ISO RGD:1317768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308158 Nabp2 nucleic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:1601970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308159 Lnx1 ligand of numb-protein X 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317771 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 1308159 Lnx1 ligand of numb-protein X 1 gene DOID:630 genetic disease ISO RGD:1317771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308160 Ccdc178 coiled-coil domain containing 178 gene DOID:1059 intellectual disability ISO RGD:1317773 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308160 Ccdc178 coiled-coil domain containing 178 gene DOID:630 genetic disease ISO RGD:1317773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308161 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 1308161 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:1540 parathyroid carcinoma ISO RGD:1317775 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308161 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:630 genetic disease ISO RGD:1317775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308161 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317775 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1317777 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Hypomagnesemia 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:7240710 20140911 OMIM 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 6 PMID:21397062|PMID:25741868|PMID:28492532 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1317777 D RGD:8554872 20180320 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1317777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:24482476|PMID:25741868|PMID:28492532 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:557 kidney disease ISO RGD:1317777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:630 genetic disease ISO RGD:1317777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317777 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:7240710 20170503 OMIM 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222|PMID:25741868|PMID:28492532 1308162 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9008449 Tetany ISO RGD:1317777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 1308163 Golga5 golgin A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1317779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1308163 Golga5 golgin A5 gene DOID:630 genetic disease ISO RGD:1317779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308163 Golga5 golgin A5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1317779 D RGD:1599259|PMID:9443391 20070122 RGD reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas 1308164 Spata3 spermatogenesis associated 3 gene DOID:0060476 Perlman syndrome ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1308164 Spata3 spermatogenesis associated 3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1308164 Spata3 spermatogenesis associated 3 gene DOID:630 genetic disease ISO RGD:1317781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308165 Msantd3 Myb/SANT DNA binding domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1603187 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308165 Msantd3 Myb/SANT DNA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1603187 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:0060041 autism spectrum disorder ISO RGD:1606589 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:1073 renal hypertension ISO RGD:1606589 D RGD:7243143|PMID:20495177 20130508 RGD 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1606589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:557 kidney disease ISO RGD:1606589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18769365 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:574 peripheral nervous system disease ISO RGD:1606589 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27736846 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:630 genetic disease ISO RGD:1606589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:684 hepatocellular carcinoma ISO RGD:1606589 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:783 end stage renal disease ISO RGD:1606589 D RGD:7243146|PMID:18769365 20130508 RGD DNA:polymorphisms: : 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:863 nervous system disease ISO RGD:1606589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9000884 Rhabdomyolysis ISO RGD:1606589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15365880 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:734157 D RGD:11554173 20170314 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9002235 Rhabdomyolysis, Cerivastatin-Induced ISO RGD:1606589 D RGD:7240710 20200923 OMIM 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9002235 Rhabdomyolysis, Cerivastatin-Induced ISO RGD:1606589 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CYP2C8-RELATED PMID:15365880 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:1606589 D RGD:11353800|PMID:21702053 20160722 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1606589 D RGD:11353800|PMID:21702053 20160722 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1606589 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27736846 1308166 Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1606589 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 1308168 Rnf213 ring finger protein 213 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 1308168 Rnf213 ring finger protein 213 gene DOID:13099 Moyamoya disease ISO RGD:1351712 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Moyamoya disease PMID:33568546 1308168 Rnf213 ring finger protein 213 gene DOID:13620 patent foramen ovale ISO RGD:1351712 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 1308168 Rnf213 ring finger protein 213 gene DOID:1826 epilepsy ISO RGD:1351712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 1308168 Rnf213 ring finger protein 213 gene DOID:5889 anaplastic ependymoma ISO RGD:1351712 D RGD:8554872 20210302 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:26822237 1308168 Rnf213 ring finger protein 213 gene DOID:630 genetic disease ISO RGD:1351712 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308168 Rnf213 ring finger protein 213 gene DOID:9007096 Stroke ISO RGD:1351712 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25278557|PMID:25741868|PMID:28492532 1308168 Rnf213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351712 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1308168 Rnf213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:21048783|PMID:21799892|PMID:22377813|PMID:22931863|PMID:23110205|PMID:25278557|PMID:25741868|PMID:25956231|PMID:26126547|PMID:26530418|PMID:27515544|PMID:27736983|PMID:28492532|PMID:29483232|PMID:31474762 1308168 Rnf213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 susceptibility ISO RGD:1351712 D RGD:7240710 20190502 OMIM 1308168 Rnf213 ring finger protein 213 gene DOID:9007908 Aortic Coarctation ISO RGD:1351712 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 1308168 Rnf213 ring finger protein 213 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1308169 Ppp1r7 protein phosphatase 1, regulatory subunit 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308169 Ppp1r7 protein phosphatase 1, regulatory subunit 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308169 Ppp1r7 protein phosphatase 1, regulatory subunit 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317789 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1308169 Ppp1r7 protein phosphatase 1, regulatory subunit 7 gene DOID:1059 intellectual disability ISO RGD:1317789 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308169 Ppp1r7 protein phosphatase 1, regulatory subunit 7 gene DOID:630 genetic disease ISO RGD:1317789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308169 Ppp1r7 protein phosphatase 1, regulatory subunit 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1308170 Cd180 CD180 molecule gene DOID:0080600 COVID-19 ISO RGD:1317791 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308170 Cd180 CD180 molecule gene DOID:630 genetic disease ISO RGD:1317791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308170 Cd180 CD180 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317791 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308171 Ogn osteoglycin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1308171 Ogn osteoglycin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 1308171 Ogn osteoglycin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1308171 Ogn osteoglycin gene DOID:630 genetic disease ISO RGD:1317793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308171 Ogn osteoglycin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1308172 Ubtd1 ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1317795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308173 Dmrta2 DMRT-like family A2 gene DOID:630 genetic disease ISO RGD:1343593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1308174 Fign fidgetin, microtubule severing factor gene DOID:12849 autistic disorder ISO RGD:1317798 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1308174 Fign fidgetin, microtubule severing factor gene DOID:630 genetic disease ISO RGD:1317798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308174 Fign fidgetin, microtubule severing factor gene DOID:9008582 Developmental Disease ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1308176 Ccnb2 cyclin B2 gene DOID:0080600 COVID-19 ISO RGD:1317801 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308176 Ccnb2 cyclin B2 gene DOID:2717 Bloom syndrome ISO RGD:1317801 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308176 Ccnb2 cyclin B2 gene DOID:630 genetic disease ISO RGD:1317801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308176 Ccnb2 cyclin B2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317801 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308176 Ccnb2 cyclin B2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308176 Ccnb2 cyclin B2 gene DOID:9256 colorectal cancer ISO RGD:1317801 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308177 Maml3 mastermind-like transcriptional coactivator 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1308177 Maml3 mastermind-like transcriptional coactivator 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1317803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 1308177 Maml3 mastermind-like transcriptional coactivator 3 gene DOID:1115 sarcoma ISO RGD:1317803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 1308177 Maml3 mastermind-like transcriptional coactivator 3 gene DOID:1682 congenital heart disease ISO RGD:1317803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23708190 1308177 Maml3 mastermind-like transcriptional coactivator 3 gene DOID:630 genetic disease ISO RGD:1317803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308178 Sgsm1 small G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1317805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308181 Ctsf cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:7240710 20140911 OMIM 1308181 Ctsf cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 PMID:16199547|PMID:17576681|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532|PMID:9536098 1308181 Ctsf cathepsin F gene DOID:1059 intellectual disability ISO RGD:1317809 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308181 Ctsf cathepsin F gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1308181 Ctsf cathepsin F gene DOID:630 genetic disease ISO RGD:1317809 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532 1308181 Ctsf cathepsin F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1317809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1308181 Ctsf cathepsin F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317809 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308181 Ctsf cathepsin F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1317809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1308181 Ctsf cathepsin F gene DOID:9008582 Developmental Disease ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1308182 Elmo1 engulfment and cell motility 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1308182 Elmo1 engulfment and cell motility 1 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 1308182 Elmo1 engulfment and cell motility 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317811 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308182 Elmo1 engulfment and cell motility 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1317811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 1308182 Elmo1 engulfment and cell motility 1 gene DOID:630 genetic disease ISO RGD:1317811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308182 Elmo1 engulfment and cell motility 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 1308183 Usp31 ubiquitin specific peptidase 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1317813 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1308183 Usp31 ubiquitin specific peptidase 31 gene DOID:630 genetic disease ISO RGD:1317813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308184 Ankle1 ankyrin repeat and LEM domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605878 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308184 Ankle1 ankyrin repeat and LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1605878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308185 Yipf3 Yip1 domain family, member 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308185 Yipf3 Yip1 domain family, member 3 gene DOID:4450 renal cell carcinoma ISO RGD:1317816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1308185 Yipf3 Yip1 domain family, member 3 gene DOID:630 genetic disease ISO RGD:1317816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308185 Yipf3 Yip1 domain family, member 3 gene DOID:905 Zellweger syndrome ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308187 Mob3a MOB kinase activator 3A gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1308187 Mob3a MOB kinase activator 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308187 Mob3a MOB kinase activator 3A gene DOID:630 genetic disease ISO RGD:1317819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308187 Mob3a MOB kinase activator 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308187 Mob3a MOB kinase activator 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317819 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308188 Upp2 uridine phosphorylase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 1308188 Upp2 uridine phosphorylase 2 gene DOID:630 genetic disease ISO RGD:1317821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308190 Cul3 cullin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1308190 Cul3 cullin 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1317824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:25741868|PMID:28492532 1308190 Cul3 cullin 3 gene DOID:1059 intellectual disability ISO RGD:1317824 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308190 Cul3 cullin 3 gene DOID:1909 melanoma ISO RGD:1317824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1308190 Cul3 cullin 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1317824 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938 1308190 Cul3 cullin 3 gene DOID:630 genetic disease ISO RGD:1317824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308190 Cul3 cullin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317824 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1308190 Cul3 cullin 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1317824 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938 1308190 Cul3 cullin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317824 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1308190 Cul3 cullin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317824 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308190 Cul3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:7240710 20220216 OMIM 1308190 Cul3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures PMID:16199547|PMID:25741868|PMID:27824329|PMID:28492532|PMID:29361671|PMID:32341456|PMID:32860008|PMID:33004838 1308190 Cul3 cullin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32341456 1308190 Cul3 cullin 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1317824 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 1308190 Cul3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:7240710 20140911 OMIM 1308190 Cul3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E PMID:22266938|PMID:25741868|PMID:28492532|PMID:32341456|PMID:32860008 1308191 Guca1b guanylate cyclase activator 1B gene DOID:0050444 infantile Refsum disease ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308191 Guca1b guanylate cyclase activator 1B gene DOID:0050795 cone dystrophy ISO RGD:1317826 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15505030|PMID:25741868|PMID:28492532 1308191 Guca1b guanylate cyclase activator 1B gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1317826 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:15505030|PMID:25741868|PMID:28492532 1308191 Guca1b guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:7240710 20140911 OMIM 1308191 Guca1b guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 48 PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 1308191 Guca1b guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15452722 1308191 Guca1b guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8547535|PMID:23701314 20140217 RGD 1308191 Guca1b guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532 1308191 Guca1b guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 1308191 Guca1b guanylate cyclase activator 1B gene DOID:14791 Leber congenital amaurosis ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 1308191 Guca1b guanylate cyclase activator 1B gene DOID:630 genetic disease ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308191 Guca1b guanylate cyclase activator 1B gene DOID:905 Zellweger syndrome ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308193 Slc9a8 solute carrier family 9 member A8 gene DOID:1307 dementia ISO RGD:1317829 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19234771 1308193 Slc9a8 solute carrier family 9 member A8 gene DOID:630 genetic disease ISO RGD:1317829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308194 Nanos1 nanos C2HC-type zinc finger 1 gene DOID:0070171 spermatogenic failure 12 ISO RGD:1317831 D RGD:7240710 20140911 OMIM 1308194 Nanos1 nanos C2HC-type zinc finger 1 gene DOID:1790 malignant mesothelioma ISO RGD:1317831 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1308194 Nanos1 nanos C2HC-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308195 Slurp2 secreted Ly6/Plaur domain containing 2 gene DOID:3390 palmoplantar keratosis ISS RGD:1317833 D RGD:13592920 20180621 MouseDO 1308196 Mrpl30 mitochondrial ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:1317834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308197 Dennd2c DENN domain containing 2C gene DOID:0080690 RASopathy ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1308197 Dennd2c DENN domain containing 2C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1308197 Dennd2c DENN domain containing 2C gene DOID:630 genetic disease ISO RGD:1604979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317837 D RGD:11535375|PMID:26581505 20220825 RGD protein:increased expression:tongue (human) 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:1317837 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:10937 impulse control disorder ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539927 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1561 cognitive disorder ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24067299 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391389 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:480 movement disease ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10600402 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:1317837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1317837 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1317837 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12657709|PMID:17898221|PMID:18539927|PMID:19331462 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:1317837 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment IDA D RGD:10395300|PMID:23519232 20150901 RGD 1308198 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1317837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17219962 1308199 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308199 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 gene DOID:1059 intellectual disability ISO RGD:1317839 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308199 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1308199 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 gene DOID:2746 glycogen storage disease V ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1308199 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 gene DOID:3070 high grade glioma ISO RGD:1317839 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1308199 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1317839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1317841 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0050795 cone dystrophy ISO RGD:1317841 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317841 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1317841 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1317841 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317841 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:7240710 20130221 OMIM 1308200 Pitpnm3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 1308200 Pitpnm3 PITPNM family member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 1308200 Pitpnm3 PITPNM family member 3 gene DOID:630 genetic disease ISO RGD:1317841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308200 Pitpnm3 PITPNM family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317841 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308200 Pitpnm3 PITPNM family member 3 gene DOID:8501 fundus dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1308201 Frs2 fibroblast growth factor receptor substrate 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1317842 D RGD:11352663|PMID:25900027 20160714 RGD 1308201 Frs2 fibroblast growth factor receptor substrate 2 gene DOID:630 genetic disease ISO RGD:1317842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308202 Akna AT-hook transcription factor gene DOID:630 genetic disease ISO RGD:1317844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308203 Zfp647 zinc finger protein 647 gene DOID:630 genetic disease ISO RGD:1349906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308204 Etnk1 ethanolamine kinase 1 gene DOID:3307 teratoma ISO RGD:1317846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1308204 Etnk1 ethanolamine kinase 1 gene DOID:630 genetic disease ISO RGD:1317846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308204 Etnk1 ethanolamine kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1308205 Pard6b par-6 family cell polarity regulator beta gene DOID:0060041 autism spectrum disorder ISO RGD:1317848 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308205 Pard6b par-6 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1317848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:28492532 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0080307 myofibrillar myopathy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:26467025|PMID:27642634|PMID:28422763|PMID:28492532 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:7240710 20130731 OMIM 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 PMID:10489050|PMID:17576681|PMID:20682716|PMID:21376592|PMID:22334415|PMID:22366786|PMID:23394708|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25214167|PMID:25306414|PMID:25741868|PMID:26205529|PMID:26338452|PMID:26362252|PMID:26371419|PMID:26467025|PMID:26847086|PMID:27642634|PMID:27671536|PMID:28233300|PMID:28422763|PMID:28492532|PMID:28794355|PMID:28973549|PMID:29437287|PMID:29970176|PMID:30564623|PMID:30838352|PMID:31034989|PMID:31955980|PMID:32528171|PMID:8533766|PMID:9536098|PMID:9973293 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1349519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366786 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:12849 autistic disorder ISO RGD:1349519 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:14330 Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:28492532 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:630 genetic disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308207 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:9005532 Muscle Weakness ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 1308208 Kctd6 potassium channel tetramerization domain containing 6 gene DOID:630 genetic disease ISO RGD:1317853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308208 Kctd6 potassium channel tetramerization domain containing 6 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1308210 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:0050726 tyrosinemia type I ISO RGD:1603613 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 1308210 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:2717 Bloom syndrome ISO RGD:1603613 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308210 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:630 genetic disease ISO RGD:1603613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308210 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:9256 colorectal cancer ISO RGD:1603613 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308211 Klhdc1 kelch domain containing 1 gene DOID:630 genetic disease ISO RGD:1317857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308211 Klhdc1 kelch domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308212 Wscd1 WSC domain containing 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308212 Wscd1 WSC domain containing 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1308212 Wscd1 WSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1603698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308212 Wscd1 WSC domain containing 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1603698 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308213 Pbx1 PBX homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28566479 1308213 Pbx1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:155630607|PMID:29036646 20221025 RGD DNA:missense mutations:multiple (human) 1308213 Pbx1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:7240710 20190315 OMIM 1308213 Pbx1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects PMID:25741868|PMID:28492532|PMID:28566479|PMID:29036646|PMID:29226118|PMID:29966037|PMID:32860008 1308213 Pbx1 PBX homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317860 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308213 Pbx1 PBX homeobox 1 gene DOID:1686 glaucoma IEP D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (rat) 1308213 Pbx1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1317860 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 1308213 Pbx1 PBX homeobox 1 gene DOID:303 substance-related disorder ISO RGD:1317860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1308213 Pbx1 PBX homeobox 1 gene DOID:3454 brain infarction IEP D RGD:155630606|PMID:12161747 20221025 RGD protein:altered expression:brain (rat) 1308213 Pbx1 PBX homeobox 1 gene DOID:630 genetic disease ISO RGD:1317860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28566479|PMID:29036646 1308213 Pbx1 PBX homeobox 1 gene DOID:8584 Burkitt lymphoma ISO RGD:1317860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1967982|PMID:17244677 1308213 Pbx1 PBX homeobox 1 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1552910 D RGD:155630610|PMID:18723445 20221025 RGD 1308213 Pbx1 PBX homeobox 1 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1552910 D RGD:155630609|PMID:31625560 20221025 RGD 1308213 Pbx1 PBX homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317860 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308214 Chst12 carbohydrate sulfotransferase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1317861 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308214 Chst12 carbohydrate sulfotransferase 12 gene DOID:10763 hypertension IEP D RGD:8693701|PMID:25001272 20210118 RGD mRNA:decreased expression:renal cortex and medulla (rat) 1308214 Chst12 carbohydrate sulfotransferase 12 gene DOID:630 genetic disease ISO RGD:1317861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308215 Tlcd3b TLC domain containing 3B gene DOID:0050572 cone-rod dystrophy ISS RGD:1332551 D RGD:13592920 20220519 MouseDO 1308215 Tlcd3b TLC domain containing 3B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1308215 Tlcd3b TLC domain containing 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1605610 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1308215 Tlcd3b TLC domain containing 3B gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605610 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1308215 Tlcd3b TLC domain containing 3B gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1308215 Tlcd3b TLC domain containing 3B gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1308215 Tlcd3b TLC domain containing 3B gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1308215 Tlcd3b TLC domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1605610 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308215 Tlcd3b TLC domain containing 3B gene DOID:1882 atrial heart septal defect ISO RGD:1605610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1308215 Tlcd3b TLC domain containing 3B gene DOID:5419 schizophrenia ISO RGD:1605610 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308215 Tlcd3b TLC domain containing 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605610 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308215 Tlcd3b TLC domain containing 3B gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1308215 Tlcd3b TLC domain containing 3B gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605610 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1308215 Tlcd3b TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:7240710 20210929 OMIM 1308215 Tlcd3b TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 1308216 Usp44 ubiquitin specific peptidase 44 gene DOID:630 genetic disease ISO RGD:1317864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308217 Veph1 ventricular zone expressed PH domain-containing 1 gene DOID:630 genetic disease ISO RGD:1353776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308218 Ess2 ess-2 splicing factor homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1317866 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1308218 Ess2 ess-2 splicing factor homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1308218 Ess2 ess-2 splicing factor homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1308218 Ess2 ess-2 splicing factor homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1317866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1308218 Ess2 ess-2 splicing factor homolog gene DOID:1059 intellectual disability ISO RGD:1317866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308218 Ess2 ess-2 splicing factor homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1317866 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1308218 Ess2 ess-2 splicing factor homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1308218 Ess2 ess-2 splicing factor homolog gene DOID:11372 megacolon ISO RGD:1317866 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308218 Ess2 ess-2 splicing factor homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1308218 Ess2 ess-2 splicing factor homolog gene DOID:12849 autistic disorder ISO RGD:1317866 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308218 Ess2 ess-2 splicing factor homolog gene DOID:1826 epilepsy ISO RGD:1317866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308218 Ess2 ess-2 splicing factor homolog gene DOID:5419 schizophrenia ISO RGD:1317866 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308218 Ess2 ess-2 splicing factor homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1317866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1308218 Ess2 ess-2 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1317866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308218 Ess2 ess-2 splicing factor homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317866 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308218 Ess2 ess-2 splicing factor homolog gene DOID:9007661 Dwarfism ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1308218 Ess2 ess-2 splicing factor homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1308221 Tbc1d9 TBC1 domain family member 9 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1604383 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 1308221 Tbc1d9 TBC1 domain family member 9 gene DOID:630 genetic disease ISO RGD:1604383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308221 Tbc1d9 TBC1 domain family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308222 Lnx2 ligand of numb-protein X 2 gene DOID:630 genetic disease ISO RGD:1317872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308223 Rad9b RAD9 checkpoint clamp component B gene DOID:0080074 neural tube defect ISO RGD:1317874 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Neural tube defect 1308223 Rad9b RAD9 checkpoint clamp component B gene DOID:630 genetic disease ISO RGD:1317874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308225 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1317878 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1308225 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:1059 intellectual disability ISO RGD:1317878 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308225 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:1062 Fanconi syndrome ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 1308225 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:630 genetic disease ISO RGD:1317878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308225 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 1308226 Lrguk leucine-rich repeats and guanylate kinase domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603904 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308226 Lrguk leucine-rich repeats and guanylate kinase domain containing gene DOID:630 genetic disease ISO RGD:1603904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308227 Klb klotho beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1604985 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 1308227 Klb klotho beta gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 1308227 Klb klotho beta gene DOID:10584 retinitis pigmentosa ISO RGD:1331989 D RGD:10403060|PMID:23796581 20151106 RGD protein:increased expression:outer nuclear layer: 1308227 Klb klotho beta gene DOID:13938 amenorrhea ISO RGD:1604985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 1308227 Klb klotho beta gene DOID:630 genetic disease ISO RGD:1604985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308227 Klb klotho beta gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1308228 Skic8 SKI8 subunit of superkiller complex gene DOID:2717 Bloom syndrome ISO RGD:1601957 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308228 Skic8 SKI8 subunit of superkiller complex gene DOID:9256 colorectal cancer ISO RGD:1601957 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308229 Slc43a1 solute carrier family 43 member 1 gene DOID:1059 intellectual disability ISO RGD:1317883 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308229 Slc43a1 solute carrier family 43 member 1 gene DOID:630 genetic disease ISO RGD:1317883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308230 Eif3l eukaryotic translation initiation factor 3, subunit L gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1308230 Eif3l eukaryotic translation initiation factor 3, subunit L gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317885 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308230 Eif3l eukaryotic translation initiation factor 3, subunit L gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308230 Eif3l eukaryotic translation initiation factor 3, subunit L gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308230 Eif3l eukaryotic translation initiation factor 3, subunit L gene DOID:630 genetic disease ISO RGD:1317885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308231 Rhbdd2 rhomboid domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317887 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308231 Rhbdd2 rhomboid domain containing 2 gene DOID:630 genetic disease ISO RGD:1317887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308231 Rhbdd2 rhomboid domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1317887 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1308233 Ado 2-aminoethanethiol dioxygenase gene DOID:630 genetic disease ISO RGD:1317890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308234 Carns1 carnosine synthase 1 gene DOID:1059 intellectual disability ISO RGD:2301770 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308234 Carns1 carnosine synthase 1 gene DOID:630 genetic disease ISO RGD:2301770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308234 Carns1 carnosine synthase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2301770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1308234 Carns1 carnosine synthase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2301770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:0060480 left ventricular noncompaction ISS RGD:1317895 D RGD:13592920 20191010 MouseDO OMIM:604169 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:7240710 20160113 OMIM 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SLC39A8-CDG PMID:23806086|PMID:24088041|PMID:25687216|PMID:25741868|PMID:26637978|PMID:26637979|PMID:2809732|PMID:28492532|PMID:29453449|PMID:32313153|PMID:34768831 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:3633 beta-mannosidosis ISO RGD:1317894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:630 genetic disease ISO RGD:1317894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:9000304 Manganese Poisoning ISO RGD:1317894 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29429640 1308236 Slc39a8 solute carrier family 39 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308239 Cd209a CD209a molecule gene DOID:5434 scrapie ISO RGD:1317899 D RGD:40400758|PMID:27522473 20201104 RGD 1308239 Cd209a CD209a molecule gene DOID:9004484 Sepsis ISO RGD:1317899 D RGD:39938991|PMID:23254286 20201018 RGD 1308239 Cd209a CD209a molecule gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1317899 D RGD:39938990|PMID:29386115 20201018 RGD 1308239 Cd209a CD209a molecule gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1317899 D RGD:39938995|PMID:24729611 20201018 RGD mRNA,protein:decreased expression:spleen,liver (mouse) 1308240 Fchsd1 FCH and double SH3 domains 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308240 Fchsd1 FCH and double SH3 domains 1 gene DOID:630 genetic disease ISO RGD:1317900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308240 Fchsd1 FCH and double SH3 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317900 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308240 Fchsd1 FCH and double SH3 domains 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308241 Adgra1 adhesion G protein-coupled receptor A1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317902 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1308241 Adgra1 adhesion G protein-coupled receptor A1 gene DOID:630 genetic disease ISO RGD:1317902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308244 Mpped1 metallophosphoesterase domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317908 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1308244 Mpped1 metallophosphoesterase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1317908 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308244 Mpped1 metallophosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308245 Coq8a coenzyme Q8A gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type PMID:25741868|PMID:26467025|PMID:28492532 1308245 Coq8a coenzyme Q8A gene DOID:0050753 cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 1308245 Coq8a coenzyme Q8A gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629 1308245 Coq8a coenzyme Q8A gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1343862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18319072 1308245 Coq8a coenzyme Q8A gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1343862 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:24033266 1308245 Coq8a coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:7240710 20130425 OMIM 1308245 Coq8a coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 PMID:12682339|PMID:15326254|PMID:16199547|PMID:17576681|PMID:18319072|PMID:18319074|PMID:18414213|PMID:19440741|PMID:20495179|PMID:20580948|PMID:21873089|PMID:22036850|PMID:24033266|PMID:24048965|PMID:24164873|PMID:24218524|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25498144|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26640698|PMID:26757139|PMID:27106809|PMID:27142713|PMID:27848944|PMID:28492532|PMID:29159460|PMID:29255295|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32637629|PMID:32685350|PMID:32743982|PMID:32771712|PMID:32830305|PMID:32961396|PMID:33098801|PMID:33622667|PMID:34663476|PMID:9536098 1308245 Coq8a coenzyme Q8A gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1343862 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18319074|PMID:24033266|PMID:25741868|PMID:28492532 1308245 Coq8a coenzyme Q8A gene DOID:1540 parathyroid carcinoma ISO RGD:1343862 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308245 Coq8a coenzyme Q8A gene DOID:630 genetic disease ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295|PMID:29915382|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32685350|PMID:32771712|PMID:9536098 1308245 Coq8a coenzyme Q8A gene DOID:700 mitochondrial metabolism disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25131622|PMID:25741868|PMID:28492532|PMID:32337771|PMID:32685350 1308245 Coq8a coenzyme Q8A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1343862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629 1308245 Coq8a coenzyme Q8A gene DOID:9006534 Nervous System Malformations ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18319072|PMID:25741868|PMID:27142713|PMID:28492532|PMID:29915382 1308245 Coq8a coenzyme Q8A gene DOID:9008086 Developmental Disabilities ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18319074|PMID:20580948|PMID:24164873|PMID:28492532 1308245 Coq8a coenzyme Q8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343862 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308245 Coq8a coenzyme Q8A gene DOID:9650 pathologic nystagmus ISO RGD:1343862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25558065 1308247 Polm DNA polymerase mu gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317912 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308247 Polm DNA polymerase mu gene DOID:630 genetic disease ISO RGD:1317912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308248 Pld3 phospholipase D family, member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 1308248 Pld3 phospholipase D family, member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:7240710 20190315 OMIM 1308248 Pld3 phospholipase D family, member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:29053796|PMID:32376792|PMID:8595484 1308248 Pld3 phospholipase D family, member 3 gene DOID:0080600 COVID-19 ISO RGD:1317914 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308248 Pld3 phospholipase D family, member 3 gene DOID:0110051 Alzheimer's disease 19 ISO RGD:1317914 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alzheimer disease 19 PMID:24336208|PMID:25832408|PMID:25832410|PMID:25832411|PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 1308248 Pld3 phospholipase D family, member 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:2340 craniosynostosis ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:630 genetic disease ISO RGD:1317914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308248 Pld3 phospholipase D family, member 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:9269 maple syrup urine disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1308248 Pld3 phospholipase D family, member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1308250 Fer1l4 fer-1-like family member 4 gene DOID:0080600 COVID-19 ISO RGD:1350956 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603910 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603910 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603910 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0111934 immunodeficiency 38 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308251 Prxl2b peroxiredoxin like 2B gene DOID:0111935 immunodeficiency 16 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308251 Prxl2b peroxiredoxin like 2B gene DOID:10316 pneumoconiosis ISO RGD:1603910 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1308251 Prxl2b peroxiredoxin like 2B gene DOID:630 genetic disease ISO RGD:1603910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308251 Prxl2b peroxiredoxin like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603910 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308251 Prxl2b peroxiredoxin like 2B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603910 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1308251 Prxl2b peroxiredoxin like 2B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308252 Ffar4 free fatty acid receptor 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1317919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 1308252 Ffar4 free fatty acid receptor 4 gene DOID:630 genetic disease ISO RGD:1317919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308252 Ffar4 free fatty acid receptor 4 gene DOID:9970 obesity ISO RGD:1317919 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1308252 Ffar4 free fatty acid receptor 4 gene DOID:9970 obesity ISO RGD:1317919 D RGD:8554872 20181002 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 10 PMID:22343897|PMID:27068006 1308252 Ffar4 free fatty acid receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:1317919 D RGD:7240710 20190502 OMIM 1308253 Bin3 bridging integrator 3 gene DOID:630 genetic disease ISO RGD:1317921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308253 Bin3 bridging integrator 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1317924 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317924 D RGD:2315107|PMID:12907594 20091218 RGD 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:1612 breast cancer ISO RGD:1317924 D RGD:2315106|PMID:14639658 20091218 RGD mRNA:increased expression:breast 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:1984 rectal benign neoplasm ISO RGD:1317924 D RGD:2315108|PMID:11568975 20091218 RGD mRNA:increased expression:rectum 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1317924 D RGD:2315108|PMID:11568975 20091218 RGD mRNA:increased expression:stomach 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317924 D RGD:2315108|PMID:11568975 20091218 RGD mRNA:increased expression:kidney 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:630 genetic disease ISO RGD:1317924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308255 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317924 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0081218 autosomal recessive intellectual developmental disorder 74 ISO RGD:1317926 D RGD:7240710 20220831 OMIM 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:7240710 20190315 OMIM 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sotos syndrome 3 PMID:25741868|PMID:25753423|PMID:28492532|PMID:33161245 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:1826 epilepsy ISO RGD:1317926 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1317926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317926 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:7240710 20191211 OMIM 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10 PMID:25741868|PMID:28492532|PMID:31585108 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:18716850|PMID:21278247 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317926 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1308256 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1308257 Iffo1 intermediate filament family orphan 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1308257 Iffo1 intermediate filament family orphan 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1308257 Iffo1 intermediate filament family orphan 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603680 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1308257 Iffo1 intermediate filament family orphan 1 gene DOID:630 genetic disease ISO RGD:1603680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308257 Iffo1 intermediate filament family orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603680 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:0080599 Coronavirus infectious disease ISS RGD:1550939 D RGD:13592920 20200730 MouseDO 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:12849 autistic disorder ISO RGD:1317929 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1317929 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:9000998 Brain Injuries ISO RGD:1317929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317929 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308258 Ticam2 TIR domain containing adaptor molecule 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308259 Mbd3l1 methyl-CpG binding domain protein 3-like 1 gene DOID:12849 autistic disorder ISO RGD:1317930 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308259 Mbd3l1 methyl-CpG binding domain protein 3-like 1 gene DOID:630 genetic disease ISO RGD:1317930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308260 Ano10 anoctamin 10 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605667 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:28492532 1308260 Ano10 anoctamin 10 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1605667 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 1308260 Ano10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:7240710 20140903 OMIM 1308260 Ano10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 PMID:21092923|PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25425649|PMID:25664549|PMID:25664551|PMID:25730773|PMID:25741868|PMID:25976027|PMID:26467025|PMID:27045840|PMID:27091155|PMID:27142713|PMID:27270446|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120|PMID:31477691|PMID:32620747|PMID:33223419|PMID:34906502 1308260 Ano10 anoctamin 10 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1308260 Ano10 anoctamin 10 gene DOID:630 genetic disease ISO RGD:1605667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1308260 Ano10 anoctamin 10 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1605667 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1308260 Ano10 anoctamin 10 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1605667 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 1308261 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:630 genetic disease ISO RGD:1604260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308262 Myl7 myosin light chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 1308262 Myl7 myosin light chain 7 gene DOID:14250 Down syndrome ISO RGD:1317935 D RGD:1580934|PMID:12083776 19990101 RGD 1308262 Myl7 myosin light chain 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317934 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308262 Myl7 myosin light chain 7 gene DOID:630 genetic disease ISO RGD:1317934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308263 Adck1 aarF domain containing kinase 1 gene DOID:630 genetic disease ISO RGD:1317936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308264 Tbx21 T-box transcription factor 21 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1317938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 1308264 Tbx21 T-box transcription factor 21 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1317938 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15806396 1308264 Tbx21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:7240710 20130221 OMIM 1308264 Tbx21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:25741868 1308264 Tbx21 T-box transcription factor 21 gene DOID:12365 malaria ISO RGD:1317938 D RGD:38455985|PMID:19338000 20200807 RGD 1308264 Tbx21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15806396 1308264 Tbx21 T-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1317938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308264 Tbx21 T-box transcription factor 21 gene DOID:783 end stage renal disease ISO RGD:1317938 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:26970513 1308264 Tbx21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:7240710 20211201 OMIM 1308264 Tbx21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Immunodeficiency 88 PMID:25741868 1308264 Tbx21 T-box transcription factor 21 gene DOID:9004484 Sepsis severity ISO RGD:1317938 D RGD:38455982|PMID:25403265 20200806 RGD 1308264 Tbx21 T-box transcription factor 21 gene DOID:9005372 Inflammation ISO RGD:1317938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 1308264 Tbx21 T-box transcription factor 21 gene DOID:9006961 Asthma and Nasal Polyps ISO RGD:1317938 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Asthma and nasal polyps PMID:15806396 1308265 Dmbx1 diencephalon/mesencephalon homeobox 1 gene DOID:630 genetic disease ISO RGD:1317940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308265 Dmbx1 diencephalon/mesencephalon homeobox 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317940 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1308266 Map1s microtubule-associated protein 1S gene DOID:630 genetic disease ISO RGD:1317942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308267 Heatr3 HEAT repeat containing 3 gene DOID:0111122 nephronophthisis 14 ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1308267 Heatr3 HEAT repeat containing 3 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:25741868|PMID:35213692 1308267 Heatr3 HEAT repeat containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:35213692 1308267 Heatr3 HEAT repeat containing 3 gene DOID:630 genetic disease ISO RGD:1602884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308267 Heatr3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:7240710 20221102 OMIM 1308267 Heatr3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 PMID:25741868|PMID:35213692 1308269 Plek pleckstrin gene DOID:11476 osteoporosis ISO RGD:1317946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1308269 Plek pleckstrin gene DOID:630 genetic disease ISO RGD:1317946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308269 Plek pleckstrin gene DOID:7148 rheumatoid arthritis ISO RGD:1317946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 1308269 Plek pleckstrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308270 Acp4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:7240710 20190315 OMIM 1308270 Acp4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J PMID:25741868|PMID:27843125|PMID:28513613 1308270 Acp4 acid phosphatase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1317948 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27843125 1308270 Acp4 acid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1317948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308272 Srpk1 SRSF protein kinase 1 gene DOID:0050553 JMP syndrome ISO RGD:1317950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1308272 Srpk1 SRSF protein kinase 1 gene DOID:630 genetic disease ISO RGD:1317950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308273 Ubqln4 ubiquilin 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1308273 Ubqln4 ubiquilin 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1344813 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1308273 Ubqln4 ubiquilin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308273 Ubqln4 ubiquilin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308273 Ubqln4 ubiquilin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308273 Ubqln4 ubiquilin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344813 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308273 Ubqln4 ubiquilin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308273 Ubqln4 ubiquilin 4 gene DOID:630 genetic disease ISO RGD:1344813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308273 Ubqln4 ubiquilin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344813 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308275 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:7240710 20190424 OMIM 1308275 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 PMID:25741868|PMID:29893856|PMID:35104841|PMID:7586637 1308275 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1317955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308275 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317955 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1308276 Calhm2 calcium homeostasis modulator family member 2 gene DOID:630 genetic disease ISO RGD:1317957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:0060041 autism spectrum disorder ISO RGD:1317959 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:14566 disease of cellular proliferation ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17329238 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:1909 melanoma ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:2773 contact dermatitis ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317959 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:630 genetic disease ISO RGD:1317959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:684 hepatocellular carcinoma ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25686905 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146748 1308277 Akr1b10 aldo-keto reductase family 1 member B10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597105 1308278 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 distal hereditary motor neuronopathy type 9 ISO RGD:1317961 D RGD:7240710 20190315 OMIM 1308278 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 distal hereditary motor neuronopathy type 9 ISO RGD:1317961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 PMID:25741868|PMID:28369220|PMID:31069783|PMID:31321409 1308278 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1317961 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 1308278 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:5419 schizophrenia ISO RGD:1317961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1308278 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35790048 1308278 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317961 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 1308279 Adnp2 ADNP homeobox 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1605090 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1308279 Adnp2 ADNP homeobox 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1605090 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1308279 Adnp2 ADNP homeobox 2 gene DOID:630 genetic disease ISO RGD:1605090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308279 Adnp2 ADNP homeobox 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1605090 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1308279 Adnp2 ADNP homeobox 2 gene DOID:8445 intestinal volvulus ISO RGD:1605090 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1308279 Adnp2 ADNP homeobox 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1605090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1308279 Adnp2 ADNP homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605090 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308279 Adnp2 ADNP homeobox 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605090 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1308280 Klk9 kallikrein related-peptidase 9 gene DOID:630 genetic disease ISO RGD:1317964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308281 Hif1an hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:0090006 renal coloboma syndrome ISO RGD:1317966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 1308281 Hif1an hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:630 genetic disease ISO RGD:1317966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24584071|PMID:31676859 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317968 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:206 hereditary multiple exostoses ISO RGD:1317968 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:630 genetic disease ISO RGD:1317968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19479076|PMID:19542200|PMID:20424817|PMID:21461562|PMID:21779873|PMID:24584071 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17293876|PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24584071|PMID:31676859 1308282 Slc30a8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317968 D RGD:7240710 20230505 OMIM 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:7240710 20170301 OMIM 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 PMID:24827421|PMID:25741868|PMID:28492532|PMID:33153448 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111940 immunodeficiency 42 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:10967 spastic hemiplegia ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic hemiplegia PMID:25741868 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1344526 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:5812 MHC class II deficiency ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1344526 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9001276 Failure to Thrive ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344526 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308283 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344526 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308284 Rfesd Rieske (Fe-S) domain containing gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308284 Rfesd Rieske (Fe-S) domain containing gene DOID:630 genetic disease ISO RGD:1605818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308284 Rfesd Rieske (Fe-S) domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605818 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308284 Rfesd Rieske (Fe-S) domain containing gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1317972 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1317972 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:2773 contact dermatitis ISO RGD:1317972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1308285 Stoml2 stomatin like 2 gene DOID:630 genetic disease ISO RGD:1317972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308285 Stoml2 stomatin like 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1317972 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308285 Stoml2 stomatin like 2 gene DOID:9870 galactosemia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:0050753 cerebellar ataxia ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dysmetria PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:0050952 spastic ataxia ISO RGD:1605663 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:10763 hypertension ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:11836 clubfoot ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:13189 gout ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gout PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:1540 parathyroid carcinoma ISO RGD:1605663 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:3755 antithrombin III deficiency ISO RGD:1605663 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:630 genetic disease ISO RGD:1605663 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:26327357|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9002563 Gait Ataxia ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9007114 Mobility Limitation ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:7240710 20130221 OMIM 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation PMID:16199547|PMID:17384640|PMID:19592391|PMID:21493805|PMID:21749991|PMID:21815884|PMID:22843165|PMID:23065766|PMID:23216004|PMID:23652419|PMID:24005482|PMID:24030952|PMID:24407472|PMID:24566671|PMID:25741868|PMID:26327357|PMID:26620921|PMID:28017220|PMID:28492532|PMID:30006346|PMID:30352563|PMID:32571458|PMID:33977142|PMID:35379322 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605663 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308286 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) gene DOID:9277 primary cerebellar degeneration ISO RGD:1605663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142|PMID:35379322 1308287 Rnf32 ring finger protein 32 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1317975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 1308287 Rnf32 ring finger protein 32 gene DOID:12849 autistic disorder ISO RGD:1317975 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308287 Rnf32 ring finger protein 32 gene DOID:630 genetic disease ISO RGD:1317975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308287 Rnf32 ring finger protein 32 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1317975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:18178630 1308288 Lcp1 lymphocyte cytosolic protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317977 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1308288 Lcp1 lymphocyte cytosolic protein 1 gene DOID:630 genetic disease ISO RGD:1317977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308288 Lcp1 lymphocyte cytosolic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8892287 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 1308288 Lcp1 lymphocyte cytosolic protein 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1308288 Lcp1 lymphocyte cytosolic protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308289 Pcdhga10 protocadherin gamma subfamily A, 10 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1317979 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1308289 Pcdhga10 protocadherin gamma subfamily A, 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308289 Pcdhga10 protocadherin gamma subfamily A, 10 gene DOID:630 genetic disease ISO RGD:1317979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308289 Pcdhga10 protocadherin gamma subfamily A, 10 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1317979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1308289 Pcdhga10 protocadherin gamma subfamily A, 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317979 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308289 Pcdhga10 protocadherin gamma subfamily A, 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308290 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1308290 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:1540 parathyroid carcinoma ISO RGD:1605103 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308290 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:630 genetic disease ISO RGD:1605103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308290 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1308290 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:9008939 Breast Neoplasms ISO RGD:1605103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 1308290 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605103 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308291 Spata9 spermatogenesis associated 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308291 Spata9 spermatogenesis associated 9 gene DOID:630 genetic disease ISO RGD:1317981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308291 Spata9 spermatogenesis associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317981 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308291 Spata9 spermatogenesis associated 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308292 Nudt15 nudix hydrolase 15 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317982 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308292 Nudt15 nudix hydrolase 15 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1317982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 1308292 Nudt15 nudix hydrolase 15 gene DOID:1059 intellectual disability ISO RGD:1317982 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308292 Nudt15 nudix hydrolase 15 gene DOID:630 genetic disease ISO RGD:1317982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308292 Nudt15 nudix hydrolase 15 gene DOID:768 retinoblastoma ISO RGD:1317982 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 1308292 Nudt15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:7240710 20190315 OMIM 1308292 Nudt15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 PMID:22992668|PMID:25108385|PMID:25624441|PMID:26033531|PMID:26076924|PMID:26405151|PMID:26503813|PMID:26590936|PMID:26735160|PMID:26878724|PMID:27095468|PMID:27193222|PMID:27416873|PMID:27558924|PMID:27577869|PMID:27604507|PMID:28088792|PMID:28146264|PMID:28418010|PMID:28445187|PMID:28659275|PMID:29702976|PMID:29704867|PMID:29720126|PMID:29867468|PMID:29923122|PMID:29967377|PMID:30035323|PMID:30048756|PMID:30101994|PMID:30728528|PMID:31024313 1308293 Hemk1 HemK methyltransferase family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1308293 Hemk1 HemK methyltransferase family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1308293 Hemk1 HemK methyltransferase family member 1 gene DOID:630 genetic disease ISO RGD:1343848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:630 genetic disease ISO RGD:1317985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:7240710 20220223 OMIM 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia PMID:25741868|PMID:35066646 1308294 Nhlh2 nescient helix loop helix 2 gene DOID:9970 obesity ISO RGD:1317985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20808804 1308295 Rhbdl2 rhomboid like 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317987 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308295 Rhbdl2 rhomboid like 2 gene DOID:630 genetic disease ISO RGD:1317987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308296 Nxnl1 nucleoredoxin-like 1 gene DOID:630 genetic disease ISO RGD:1350601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308297 Rbm26 RNA binding motif protein 26 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317989 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308297 Rbm26 RNA binding motif protein 26 gene DOID:10327 anthracosis ISO RGD:1317989 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 1308297 Rbm26 RNA binding motif protein 26 gene DOID:630 genetic disease ISO RGD:1317989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308298 Mmp25 matrix metallopeptidase 25 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1308298 Mmp25 matrix metallopeptidase 25 gene DOID:1826 epilepsy ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1308298 Mmp25 matrix metallopeptidase 25 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317990 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308298 Mmp25 matrix metallopeptidase 25 gene DOID:630 genetic disease ISO RGD:1317990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308299 Oard1 O-acyl-ADP-ribose deacylase 1 gene DOID:630 genetic disease ISO RGD:1317992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308301 Nle1 notchless homolog 1 gene DOID:630 genetic disease ISO RGD:1604007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308301 Nle1 notchless homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604007 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308302 Rrp8 ribosomal RNA processing 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1603685 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1308302 Rrp8 ribosomal RNA processing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603685 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1308302 Rrp8 ribosomal RNA processing 8 gene DOID:630 genetic disease ISO RGD:1603685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308303 Atp6v0b ATPase H+ transporting V0 subunit B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 1308303 Atp6v0b ATPase H+ transporting V0 subunit B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317997 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308303 Atp6v0b ATPase H+ transporting V0 subunit B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 1308303 Atp6v0b ATPase H+ transporting V0 subunit B gene DOID:630 genetic disease ISO RGD:1317997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308305 Tchhl1 trichohyalin-like 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308305 Tchhl1 trichohyalin-like 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308305 Tchhl1 trichohyalin-like 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308305 Tchhl1 trichohyalin-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605587 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308305 Tchhl1 trichohyalin-like 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308305 Tchhl1 trichohyalin-like 1 gene DOID:630 genetic disease ISO RGD:1605587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308305 Tchhl1 trichohyalin-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605587 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308307 Pdpr pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0050777 Joubert syndrome ISO RGD:1602881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25558065|PMID:27894351 1308307 Pdpr pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1308307 Pdpr pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:630 genetic disease ISO RGD:1602881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308308 Fbxo17 F-box protein 17 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1308308 Fbxo17 F-box protein 17 gene DOID:630 genetic disease ISO RGD:1318004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308308 Fbxo17 F-box protein 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISS RGD:1623819 D RGD:13592920 20181004 MouseDO OMIM:613282 | OMIM:613387 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0080690 RASopathy ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:1059 intellectual disability ISO RGD:1351240 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:630 genetic disease ISO RGD:1351240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351240 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1351240 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1308311 Sidt2 SID1 transmembrane family, member 2 gene DOID:9007661 Dwarfism ISO RGD:1351240 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308312 Irf2bp1 interferon regulatory factor 2 binding protein 1 gene DOID:630 genetic disease ISO RGD:1318010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308313 Uck1 uridine-cytidine kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308313 Uck1 uridine-cytidine kinase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1318012 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy 1308313 Uck1 uridine-cytidine kinase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318012 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1308313 Uck1 uridine-cytidine kinase 1 gene DOID:573 nerve compression syndrome IEP D RGD:634248|PMID:10581173 20110609 RGD mRNA:increased expression:spinal cord ventral horn (rat) 1308313 Uck1 uridine-cytidine kinase 1 gene DOID:630 genetic disease ISO RGD:1318012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11687797 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:7240710 20150211 OMIM 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:16100350|PMID:16255047|PMID:16646042|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29322034|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0060500 drug allergy ISO RGD:1318014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISS RGD:1318015 D RGD:13592920 20190131 MouseDO OMIM:613282 | OMIM:613387 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:7240710 20190315 OMIM 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:28847925|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:49161 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:7240710 20180808 OMIM 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16871551|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1318014 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:7240710 20130221 OMIM 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16646042|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:18063752|PMID:18080732|PMID:18174231|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29322034|PMID:29378952|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31172726|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:34099780|PMID:447320|PMID:49161|PMID:5173311 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:10320 asbestosis ISO RGD:1318014 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:11396 pulmonary edema ISO RGD:1318014 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:1324 lung cancer ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1318014 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:1555 urticaria susceptibility ISO RGD:1318014 D RGD:1600862|PMID:11687797 20070328 RGD familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:2280 hidradenitis suppurativa ISO RGD:1318014 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:2377 multiple sclerosis ISO RGD:1318014 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:2723 dermatitis ISO RGD:1318014 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatitis PMID:25741868 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24431285|PMID:24649046|PMID:24759409|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30311386|PMID:30407166|PMID:30808881|PMID:32082075|PMID:32199921|PMID:447320|PMID:49161|PMID:5173311|PMID:9536098 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1318015 D RGD:30309207|PMID:32365944 20200618 RGD 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:3044 food allergy ISO RGD:1318014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:3345 xanthomatosis exacerbates ISO RGD:1318015 D RGD:126925206|PMID:30354239 20210514 RGD associated with atherosclerosis 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:3602 toxic encephalopathy ISO RGD:1318014 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:557 kidney disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26218404|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:5844 myocardial infarction ameliorates IEP D RGD:242905187|PMID:33389498 20230327 RGD 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:630 genetic disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21058222|PMID:21109514|PMID:24033266|PMID:25741868|PMID:26386126|PMID:28492532 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:6543 acne ISO RGD:1318014 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:8553 pyoderma gangrenosum ISO RGD:1318014 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:8778 Crohn's disease ISO RGD:1318014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19098911 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9000972 Fever ISO RGD:1318014 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Fever 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9004538 Hearing Loss ISO RGD:1318014 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:15593220|PMID:25741868|PMID:28492532|PMID:29922587|PMID:30311386 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318014 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9004866 Ataxia ISO RGD:1318014 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9005372 Inflammation ISO RGD:1318014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12032915|PMID:22325453 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9007278 Anaphylaxis ISO RGD:1318014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9007692 Insulin Resistance ISO RGD:1318014 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9007956 Febrile Seizures treatment IEP D RGD:25823138|PMID:30947016 20200430 RGD 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1318014 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11687797|PMID:12032915|PMID:12928894|PMID:25217959 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24431285|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28166811|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29611406|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30407166|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22279087|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29378952|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31135083|PMID:31155445|PMID:31172726|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34868041|PMID:49161|PMID:5173311|PMID:9536098 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:7240710 20200304 OMIM 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29366613|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:3604606|PMID:49161 1308314 Nlrp3 NLR family, pyrin domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318014 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308315 Nebl nebulette gene DOID:0050700 cardiomyopathy ISO RGD:1318016 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 1308315 Nebl nebulette gene DOID:0060224 atrial fibrillation ISO RGD:1318016 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28416822 1308315 Nebl nebulette gene DOID:0060224 atrial fibrillation ISO RGD:1318016 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 1308315 Nebl nebulette gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 1308315 Nebl nebulette gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 1308315 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:9536098 1308315 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 1308315 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 1308315 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:9536098 1308315 Nebl nebulette gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1318016 D RGD:1581084|PMID:11140941 19990101 RGD DNA:missense mutation:cds:p.N654K (human) 1308315 Nebl nebulette gene DOID:2843 long QT syndrome ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076 1308315 Nebl nebulette gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318016 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1308315 Nebl nebulette gene DOID:630 genetic disease ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:25987543|PMID:28492532 1308315 Nebl nebulette gene DOID:9007820 Sudden Death ISO RGD:1318016 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 1308315 Nebl nebulette gene DOID:9007925 Sudden Cardiac Death ISO RGD:1318016 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 1308316 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1308316 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:1059 intellectual disability ISO RGD:1348005 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308316 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:630 genetic disease ISO RGD:1348005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308316 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1348005 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1308317 Abhd13 abhydrolase domain containing 13 gene DOID:630 genetic disease ISO RGD:1318018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308317 Abhd13 abhydrolase domain containing 13 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1318018 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1308318 Mrps5 mitochondrial ribosomal protein S5 gene DOID:3910 lung adenocarcinoma ISO RGD:1318020 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308318 Mrps5 mitochondrial ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:1318020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308318 Mrps5 mitochondrial ribosomal protein S5 gene DOID:9006205 Animal Disease Models ISO RGD:1318020 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308319 Mtcl1 microtubule crosslinking factor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:30548255 1308319 Mtcl1 microtubule crosslinking factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348438 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1308319 Mtcl1 microtubule crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308319 Mtcl1 microtubule crosslinking factor 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:23902687|PMID:25741868 1308319 Mtcl1 microtubule crosslinking factor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348438 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 1308319 Mtcl1 microtubule crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1348438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:0060239 Van der Woude syndrome ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:25741868 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:0060239 Van der Woude syndrome ISS RGD:1618154 D RGD:13592920 20180518 MouseDO OMIM:119300 | OMIM:606713 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:0080074 neural tube defect ISO RGD:1318023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:0110213 isolated cleft palate ISO RGD:1318023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868|PMID:27018475|PMID:28492532 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360809|PMID:28276201|PMID:28492532|PMID:28886269 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:9001916 Fetal Death ISO RGD:1318023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:7240710 20140319 OMIM 1308320 Grhl3 grainyhead-like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:11781685|PMID:16199547|PMID:20184620|PMID:22590528|PMID:22829784|PMID:24033266|PMID:24360809|PMID:25741868|PMID:28492532 1308321 Zfp654 zinc finger protein 654 gene DOID:630 genetic disease ISO RGD:1345360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308322 Myf5 myogenic factor 5 gene DOID:0060249 scoliosis ISO RGD:1318025 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:10844060|PMID:29887215 1308322 Myf5 myogenic factor 5 gene DOID:630 genetic disease ISO RGD:1318025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308322 Myf5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:7240710 20210414 OMIM 1308322 Myf5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies PMID:10844060|PMID:25741868|PMID:29887215 1308323 Uba7 ubiquitin-like modifier activating enzyme 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1308323 Uba7 ubiquitin-like modifier activating enzyme 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1308323 Uba7 ubiquitin-like modifier activating enzyme 7 gene DOID:1059 intellectual disability ISO RGD:1318027 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308323 Uba7 ubiquitin-like modifier activating enzyme 7 gene DOID:1749 squamous cell carcinoma ISO RGD:1318027 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 1308323 Uba7 ubiquitin-like modifier activating enzyme 7 gene DOID:630 genetic disease ISO RGD:1318027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308323 Uba7 ubiquitin-like modifier activating enzyme 7 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318027 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1308324 Uba6 ubiquitin-like modifier activating enzyme 6 gene DOID:630 genetic disease ISO RGD:1605374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308324 Uba6 ubiquitin-like modifier activating enzyme 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605374 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308326 Dennd10 DENN domain containing 10 gene DOID:630 genetic disease ISO RGD:1344685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308327 Alkbh1 alkB homolog 1, histone H2A dioxygenase gene DOID:630 genetic disease ISO RGD:1318033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308329 Wwc1 WW and C2 domain containing 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1601880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 1308329 Wwc1 WW and C2 domain containing 1 gene DOID:1790 malignant mesothelioma ISO RGD:1601880 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1308329 Wwc1 WW and C2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1601880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308330 Megf9 multiple EGF-like-domains 9 gene DOID:630 genetic disease ISO RGD:1342735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308332 Vps29 VPS29 retromer complex component gene DOID:630 genetic disease ISO RGD:1318040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308333 Eno4 enolase 4 gene DOID:12336 male infertility ISO RGD:1351322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23446454 1308333 Eno4 enolase 4 gene DOID:630 genetic disease ISO RGD:1351322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308334 Dpy19l3 dpy-19 like C-mannosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308335 Ubxn10 UBX domain protein 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1308335 Ubxn10 UBX domain protein 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308335 Ubxn10 UBX domain protein 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1318044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1308335 Ubxn10 UBX domain protein 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1308335 Ubxn10 UBX domain protein 10 gene DOID:630 genetic disease ISO RGD:1318044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308335 Ubxn10 UBX domain protein 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1308336 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1308336 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:0080600 COVID-19 ISO RGD:1318046 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308336 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:630 genetic disease ISO RGD:1318046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308336 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1318046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16339038 1308337 Patz1 POZ (BTB) and AT hook containing zinc finger 1 gene DOID:3070 high grade glioma ISO RGD:1318048 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1308337 Patz1 POZ (BTB) and AT hook containing zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308338 Stk32a serine/threonine kinase 32A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308338 Stk32a serine/threonine kinase 32A gene DOID:630 genetic disease ISO RGD:1318050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308338 Stk32a serine/threonine kinase 32A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318050 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308338 Stk32a serine/threonine kinase 32A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308340 Pwwp3a PWWP domain containing 3A, DNA repair factor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1308340 Pwwp3a PWWP domain containing 3A, DNA repair factor gene DOID:5339 cyclic hematopoiesis ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308340 Pwwp3a PWWP domain containing 3A, DNA repair factor gene DOID:630 genetic disease ISO RGD:1318053 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308341 Ly9 lymphocyte antigen 9 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318055 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1308341 Ly9 lymphocyte antigen 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1318055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1308341 Ly9 lymphocyte antigen 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318055 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308341 Ly9 lymphocyte antigen 9 gene DOID:630 genetic disease ISO RGD:1318055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308341 Ly9 lymphocyte antigen 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318055 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308343 Cdh9 cadherin 9 gene DOID:12849 autistic disorder ISO RGD:1354185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 1308343 Cdh9 cadherin 9 gene DOID:630 genetic disease ISO RGD:1354185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308343 Cdh9 cadherin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354185 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18234730 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:7240710 20130221 OMIM 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1 PMID:10835629|PMID:12190880|PMID:12950348|PMID:14632188|PMID:15854031|PMID:16307661|PMID:16922728|PMID:19807742|PMID:24728327|PMID:25741868|PMID:28492532 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:0111122 nephronophthisis 14 ISO RGD:1319183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:11573 listeriosis ISO RGD:1319183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23825949 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:2394 ovarian cancer ISO RGD:1319183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:3275 thymoma ISO RGD:1319183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:630 genetic disease ISO RGD:1319183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21109933 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1319183 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29477382 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:1319183 D RGD:1601033|PMID:10835629 20070404 RGD familial cylindromatosis, OMIM:132700;DNA:nonsense mutations 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:7240710 20210113 OMIM 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 PMID:23338750|PMID:25741868|PMID:32185393 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:9008454 Trichoepithelioma, Multiple Familial, 2 ISO RGD:1319183 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 2 1308346 Cyld CYLD lysine 63 deubiquitinase gene DOID:9538 multiple myeloma ISO RGD:1319183 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1308347 Ube2z ubiquitin-conjugating enzyme E2Z gene DOID:630 genetic disease ISO RGD:1606510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308349 Trim37 tripartite motif-containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 1308349 Trim37 tripartite motif-containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:7240710 20130221 OMIM 1308349 Trim37 tripartite motif-containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:10888877|PMID:12754710|PMID:15108285|PMID:15885686|PMID:17100991|PMID:17551331|PMID:21681106|PMID:25741868|PMID:28492532|PMID:33042106 1308349 Trim37 tripartite motif-containing 37 gene DOID:0050777 Joubert syndrome ISO RGD:1318066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1308349 Trim37 tripartite motif-containing 37 gene DOID:630 genetic disease ISO RGD:1318066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308349 Trim37 tripartite motif-containing 37 gene DOID:9005369 Hepatomegaly ISO RGD:1318066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 1308349 Trim37 tripartite motif-containing 37 gene DOID:9007661 Dwarfism ISO RGD:1318066 D RGD:1599667|PMID:10888877 20070212 RGD Mulibrey Nanism, OMIM:253250 1308349 Trim37 tripartite motif-containing 37 gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:1318066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 1308349 Trim37 tripartite motif-containing 37 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 1308350 Inf2 inverted formin 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1308350 Inf2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:7240710 20140911 OMIM 1308350 Inf2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:30773290|PMID:31937884|PMID:32451589|PMID:32604935|PMID:6054293 1308350 Inf2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:7240710 20131030 OMIM 1308350 Inf2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21415313|PMID:21866090|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23349334|PMID:23515051|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25741869|PMID:25943269|PMID:26086034|PMID:26248470|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28780565|PMID:29653220|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:30773290|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935|PMID:33712733|PMID:6054293|PMID:9536098 1308350 Inf2 inverted formin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20023659|PMID:20803156|PMID:21258034|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25943269|PMID:26086034|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:28492532|PMID:28780565|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935 1308350 Inf2 inverted formin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 1308350 Inf2 inverted formin 2 gene DOID:12215 oligohydramnios ISO RGD:1343033 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Oligohydramnios PMID:25741868 1308350 Inf2 inverted formin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1343033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20023659 1308350 Inf2 inverted formin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1343033 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30655312|PMID:32451589 1308350 Inf2 inverted formin 2 gene DOID:2921 glomerulonephritis ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 1308350 Inf2 inverted formin 2 gene DOID:557 kidney disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:20023659|PMID:21866090|PMID:25165188|PMID:25741868|PMID:26467025|PMID:26764407|PMID:28492532|PMID:30126379|PMID:30406062|PMID:30773290 1308350 Inf2 inverted formin 2 gene DOID:576 proteinuria ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935 1308350 Inf2 inverted formin 2 gene DOID:630 genetic disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23349334|PMID:23515051|PMID:25407002|PMID:25741868|PMID:26248470|PMID:26467025|PMID:27549087|PMID:28166811|PMID:28492532|PMID:30126379|PMID:30680856|PMID:33712733|PMID:9536098 1308350 Inf2 inverted formin 2 gene DOID:784 chronic kidney disease ISO RGD:1343033 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1308351 Cdc7 cell division cycle 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318070 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1308351 Cdc7 cell division cycle 7 gene DOID:630 genetic disease ISO RGD:1318070 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308352 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1318072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1308352 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:12849 autistic disorder ISO RGD:1318072 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308352 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1318072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308352 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:630 genetic disease ISO RGD:1318072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308352 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1308352 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318072 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308353 Rab33b RAB33B, member RAS oncogene family gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1318074 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 1308353 Rab33b RAB33B, member RAS oncogene family gene DOID:0080006 bone development disease ISO RGD:1318074 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1308353 Rab33b RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:7240710 20140911 OMIM 1308353 Rab33b RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 2 PMID:16470731|PMID:22652534|PMID:23042644|PMID:25741868|PMID:28127940|PMID:28492532 1308353 Rab33b RAB33B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308354 Ptpa protein phosphatase 2 phosphatase activator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308354 Ptpa protein phosphatase 2 phosphatase activator gene DOID:630 genetic disease ISO RGD:1318076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308354 Ptpa protein phosphatase 2 phosphatase activator gene DOID:9000217 Stomach Neoplasms ISO RGD:1318076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308354 Ptpa protein phosphatase 2 phosphatase activator gene DOID:9000918 Disease Progression ISO RGD:1318076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308355 C8a complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:7240710 20130221 OMIM 1308355 C8a complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | ClinVar Annotator: match by term: Type I complement component 8 deficiency PMID:24033266|PMID:25741868|PMID:28492532|PMID:7649542|PMID:975502|PMID:9759902 1308355 C8a complement C8 alpha chain gene DOID:5844 myocardial infarction IEP D RGD:1600501|PMID:7515561 20070322 RGD 1308355 C8a complement C8 alpha chain gene DOID:612 primary immunodeficiency disease ISO RGD:1318077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 1308355 C8a complement C8 alpha chain gene DOID:630 genetic disease ISO RGD:1318077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308355 C8a complement C8 alpha chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1318077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 1308355 C8a complement C8 alpha chain gene DOID:9471 meningitis ISO RGD:1318077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 1308356 N4bp3 Nedd4 binding protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1308356 N4bp3 Nedd4 binding protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308356 N4bp3 Nedd4 binding protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:4145242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308356 N4bp3 Nedd4 binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:4145242 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1308356 N4bp3 Nedd4 binding protein 3 gene DOID:630 genetic disease ISO RGD:4145242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308357 Tfap4 transcription factor AP-4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1308357 Tfap4 transcription factor AP-4 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1318080 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1308357 Tfap4 transcription factor AP-4 gene DOID:1059 intellectual disability ISO RGD:1318080 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1308357 Tfap4 transcription factor AP-4 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1318080 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1308357 Tfap4 transcription factor AP-4 gene DOID:1682 congenital heart disease ISO RGD:1318080 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1308357 Tfap4 transcription factor AP-4 gene DOID:1826 epilepsy ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1308357 Tfap4 transcription factor AP-4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318080 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308357 Tfap4 transcription factor AP-4 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1308357 Tfap4 transcription factor AP-4 gene DOID:630 genetic disease ISO RGD:1318080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:4079 heart valve disease ISO RGD:1318082 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:31844321 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:62 aortic valve disease ISS RGD:1318083 D RGD:13592920 20210506 MouseDO 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:630 genetic disease ISO RGD:1318082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:7240710 20221207 OMIM 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia 2 PMID:31844321|PMID:32323311 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318082 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308359 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:1318084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1318084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:7240710 20190315 OMIM 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:12551902|PMID:18388777|PMID:23033978|PMID:23934111|PMID:24038936|PMID:24896178|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:31690835|PMID:32109419|PMID:36937954 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:25741868|PMID:28492532|PMID:32109419 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24038936|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:32109419 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:10907 microcephaly ISO RGD:1318084 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:12849 autistic disorder ISO RGD:1318084 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:1826 epilepsy ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10652265|PMID:17391702|PMID:22495306|PMID:23033978|PMID:24038936|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28928363|PMID:28973398|PMID:32109419 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:7240710 20200408 OMIM 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY PMID:25741868|PMID:27418539|PMID:28492532|PMID:28796471|PMID:32109419 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318084 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318084 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318084 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9008582 Developmental Disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9119 acute myeloid leukemia ISO RGD:1318084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 1308360 Trio trio Rho guanine nucleotide exchange factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308361 Ube2l3 ubiquitin-conjugating enzyme E2L 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1308361 Ube2l3 ubiquitin-conjugating enzyme E2L 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1318085 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1308361 Ube2l3 ubiquitin-conjugating enzyme E2L 3 gene DOID:630 genetic disease ISO RGD:1318085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308361 Ube2l3 ubiquitin-conjugating enzyme E2L 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1318085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24162738 1308362 Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1318086 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1308362 Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:630 genetic disease ISO RGD:1318086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308362 Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308363 Txnrd3 thioredoxin reductase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1318088 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:increased expression:colorectum (human) 1308363 Txnrd3 thioredoxin reductase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1318088 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:increased expression:colorectum (human) 1308363 Txnrd3 thioredoxin reductase 3 gene DOID:630 genetic disease ISO RGD:1318088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308363 Txnrd3 thioredoxin reductase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318088 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1308363 Txnrd3 thioredoxin reductase 3 gene DOID:9270 alkaptonuria ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318091 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318091 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1318091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1308365 Ssr2 signal sequence receptor subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318091 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308366 Rhpn2 rhophilin, Rho GTPase binding protein 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308366 Rhpn2 rhophilin, Rho GTPase binding protein 2 gene DOID:630 genetic disease ISO RGD:1318093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308366 Rhpn2 rhophilin, Rho GTPase binding protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 1308366 Rhpn2 rhophilin, Rho GTPase binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318093 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 1308367 Ermn ermin gene DOID:0060041 autism spectrum disorder ISO RGD:1318095 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1308367 Ermn ermin gene DOID:630 genetic disease ISO RGD:1318095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308368 Mgam2 maltase-glucoamylase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:9849972 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1318099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23364794 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:17576681|PMID:19525956|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24183309|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001|PMID:34492268|PMID:9536098 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1883 hepatitis C ISO RGD:1318099 D RGD:149735572|PMID:24317272 20210727 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1969 cerebral palsy ISO RGD:1318099 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Cerebral palsy 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2043 hepatitis B ISO RGD:1318099 D RGD:149735572|PMID:24317272 20210727 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2234 focal epilepsy ISO RGD:1318099 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1318099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:7240710 20140911 OMIM 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:19525956|PMID:20653736|PMID:21204240|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1318099 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1318100 D RGD:149735526|PMID:31548683 20210721 RGD 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525956 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:7240710 20130221 OMIM 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:21402907|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24300241|PMID:24316776|PMID:24989684|PMID:25604658|PMID:25640679|PMID:25741868|PMID:26273690|PMID:26431200|PMID:26467025|PMID:26504826|PMID:27604406|PMID:27643693|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28851465|PMID:29239743|PMID:29379009|PMID:30275001|PMID:30487145|PMID:31130681|PMID:31797533|PMID:32371413|PMID:33683010|PMID:33857133|PMID:34492268|PMID:35590234|PMID:9536098 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1318099 D RGD:149735523|PMID:30474474 20210721 RGD human cell line in mouse model 1308369 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:1318099 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1318101 D RGD:9590161|PMID:24556744 20141117 RGD mRNA, protein:increased expression:prostate gland (human) 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1206 Rett syndrome severity ISO RGD:1558610 D RGD:9590158|PMID:20869373 20141117 RGD 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1318101 D RGD:9590163|PMID:23055267 20141117 RGD DNA:missense mutation, deletion:cds:p.P529L, p.P1067del (human) 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12858 Huntington's disease ISO RGD:1318101 D RGD:9590159|PMID:17142323 20141117 RGD protein:increased expression:neocortex, caudate nucleus (human) 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1324 lung cancer severity ISO RGD:1318101 D RGD:9590160|PMID:23770855 20141117 RGD human gene in a mouse model 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318101 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318101 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma ISO RGD:1318101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma severity ISO RGD:1318101 D RGD:9590162|PMID:24673285 20141117 RGD protein:increased expression:dermis, subcutis, nucleus (human) 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:3070 high grade glioma severity ISO RGD:1318101 D RGD:9590166|PMID:23943221 20141117 RGD protein:increased expression:brain, cell nucleus (human) 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1318101 D RGD:9590164|PMID:23815974 20141117 RGD mRNA:increased expression:parietal cortex, lymphocyte (human) 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318101 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1308370 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318101 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308371 Tmem126b transmembrane protein 126B gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603632 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1308371 Tmem126b transmembrane protein 126B gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1308371 Tmem126b transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:7240710 20190315 OMIM 1308371 Tmem126b transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 1308371 Tmem126b transmembrane protein 126B gene DOID:1059 intellectual disability ISO RGD:1603632 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308371 Tmem126b transmembrane protein 126B gene DOID:630 genetic disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308371 Tmem126b transmembrane protein 126B gene DOID:700 mitochondrial metabolism disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 1308372 Tnpo1 transportin 1 gene DOID:630 genetic disease ISO RGD:1318103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308372 Tnpo1 transportin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318103 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308373 Cnrip1 cannabinoid receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1318105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308374 Sirt3 sirtuin 3 gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:1318107 D RGD:13592920 20180518 MouseDO 1308374 Sirt3 sirtuin 3 gene DOID:0080208 non-alcoholic fatty liver disease treatment IDA D RGD:9586049|PMID:22327056 20140925 RGD associated with Obesity 1308374 Sirt3 sirtuin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1318106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1308374 Sirt3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318107|RGD:1318106 D RGD:9586045|PMID:23139766 20140925 RGD mRNA:increased expression:brain 1308374 Sirt3 sirtuin 3 gene DOID:11714 gestational diabetes ISO RGD:1318106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 1308374 Sirt3 sirtuin 3 gene DOID:11716 prediabetes syndrome IEP D RGD:9586046|PMID:24361842 20140925 RGD protein:decreased expression:testis 1308374 Sirt3 sirtuin 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 1308374 Sirt3 sirtuin 3 gene DOID:5844 myocardial infarction treatment IEP D RGD:9586050|PMID:24471974 20140925 RGD 1308374 Sirt3 sirtuin 3 gene DOID:6000 congestive heart failure IEP D RGD:9586040|PMID:22155497 20140925 RGD protein:decreased expression:heart left ventricle 1308374 Sirt3 sirtuin 3 gene DOID:630 genetic disease ISO RGD:1318106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308374 Sirt3 sirtuin 3 gene DOID:9000307 Presbycusis IEP D RGD:8158103|PMID:24505357 20140210 RGD protein:decreased expression:auditory cortex: 1308374 Sirt3 sirtuin 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1318106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 1308374 Sirt3 sirtuin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318106 D RGD:9586042|PMID:23397292 20140925 RGD mRNA:decreased expression:pancreatic islet 1308374 Sirt3 sirtuin 3 gene DOID:9970 obesity IEP D RGD:9586047|PMID:21901160 20140925 RGD 1308374 Sirt3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1318106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 1308376 Plaat5 phospholipase A and acyltransferase 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308376 Plaat5 phospholipase A and acyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1606473 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308376 Plaat5 phospholipase A and acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1606473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308377 Mfsd14b major facilitator superfamily domain containing 14B gene DOID:12642 hiatus hernia ISO RGD:1606770 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 1308377 Mfsd14b major facilitator superfamily domain containing 14B gene DOID:630 genetic disease ISO RGD:1606770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308378 Eri1 exoribonuclease 1 gene DOID:13938 amenorrhea ISO RGD:1605015 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1308378 Eri1 exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1605015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308378 Eri1 exoribonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605015 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308378 Eri1 exoribonuclease 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605015 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1308379 Ctrc chymotrypsin C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318112 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308379 Ctrc chymotrypsin C gene DOID:9006190 Chronic Pancreatitis ISO RGD:1318112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059268 1308379 Ctrc chymotrypsin C gene DOID:9006190 Chronic Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:18059268|PMID:18172691|PMID:19453252|PMID:20625975|PMID:22427236|PMID:22942235|PMID:23951356|PMID:25569187|PMID:25741868|PMID:28492532 1308379 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1308379 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19453252|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:25251442|PMID:25569187|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28492532|PMID:28497564|PMID:29669919|PMID:30420730|PMID:9536098 1308379 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 1308379 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 1308379 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 1308379 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis susceptibility ISO RGD:1318112 D RGD:7240710 20230505 OMIM 1308380 Trmt44 tRNA methyltransferase 44 gene DOID:630 genetic disease ISO RGD:1602178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:2340 craniosynostosis ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:630 genetic disease ISO RGD:1318115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:9269 maple syrup urine disease ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1308381 Map3k10 mitogen activated protein kinase kinase kinase 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1308382 Cdc42ep5 CDC42 effector protein 5 gene DOID:630 genetic disease ISO RGD:1318117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308383 Glrx5 glutaredoxin 5 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1318119 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1308383 Glrx5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:7240710 20190315 OMIM 1308383 Glrx5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia 3 PMID:17485548|PMID:20364084|PMID:25342667|PMID:25741868|PMID:26100117|PMID:30660387 1308383 Glrx5 glutaredoxin 5 gene DOID:630 genetic disease ISO RGD:1318119 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308383 Glrx5 glutaredoxin 5 gene DOID:8955 sideroblastic anemia ISO RGD:1318119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18637800 1308383 Glrx5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:7240710 20190315 OMIM 1308383 Glrx5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia PMID:24334290|PMID:25741868|PMID:28492532 1308384 Dclk2 doublecortin-like kinase 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1348460 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 PMID:24088041|PMID:25741868|PMID:31690835 1308384 Dclk2 doublecortin-like kinase 2 gene DOID:630 genetic disease ISO RGD:1348460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308385 Scp2d1 SCP2 sterol-binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1318122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1601852 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1601852 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1601852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1601852 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601852 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:1882 atrial heart septal defect ISO RGD:1601852 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:5419 schizophrenia ISO RGD:1601852 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601852 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1601852 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1308386 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9455 lipid storage disease ISO RGD:1601852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0080600 COVID-19 ISO RGD:1318125 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:630 genetic disease ISO RGD:1318125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318125 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318125 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308387 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1308388 Mttp microsomal triglyceride transfer protein gene DOID:0060041 autism spectrum disorder ISO RGD:1318126 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308388 Mttp microsomal triglyceride transfer protein gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318126 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 1308388 Mttp microsomal triglyceride transfer protein gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318126 D RGD:1581245|PMID:15094225 20180130 RGD 1308388 Mttp microsomal triglyceride transfer protein gene DOID:10763 hypertension onset ISO RGD:1318126 D RGD:1625485|PMID:16328015 20070611 RGD DNA:polymorphism:promoter:-493G>T 1308388 Mttp microsomal triglyceride transfer protein gene DOID:1168 familial hyperlipidemia IEP D RGD:1625489|PMID:12191589 20070611 RGD 1308388 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:1581043|PMID:14741197 19990101 RGD DNA:insertion:cds:c.419-420insA (human) 1308388 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:1581044|PMID:10946006 19990101 RGD DNA:mutations:cds:multiple (human) 1308388 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:1581045|PMID:8533758 19990101 RGD DNA:missense mutations:cds:multiple (human) 1308388 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:7240710 20190315 OMIM 1308388 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 1308388 Mttp microsomal triglyceride transfer protein gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 1308388 Mttp microsomal triglyceride transfer protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:1318126 D RGD:1625490|PMID:11849654 20070611 RGD DNA:polymorphism:promoter:-493G>T 1308388 Mttp microsomal triglyceride transfer protein gene DOID:630 genetic disease ISO RGD:1318126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1318126 D RGD:1625487|PMID:15136504 20070611 RGD DNA:polymorphism:promoter:-493G>T 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein B deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1318126 D RGD:1625482|PMID:17215532 20070611 RGD 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9006098 Abetalipoproteinemia Neuropathy ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome X | ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9452 fatty liver disease ISO RGD:1318126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9452 fatty liver disease ISO RGD:1318126 D RGD:1625483|PMID:16697730 20070611 RGD associated with Hepatitis C;mRNA:decreased expression:liver 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9970 obesity ISO RGD:1318126 D RGD:1625486|PMID:15635487 20070611 RGD DNA:polymorphisms 1308388 Mttp microsomal triglyceride transfer protein gene DOID:9970 obesity susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15635487|REF_RGD_ID:1625486 1308389 Zdhhc4 zinc finger DHHC-type palmitoyltransferase 4 gene DOID:630 genetic disease ISO RGD:1318128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308390 Serinc3 serine incorporator 3 gene DOID:2234 focal epilepsy ISO RGD:1318130 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1308390 Serinc3 serine incorporator 3 gene DOID:630 genetic disease ISO RGD:1318130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308390 Serinc3 serine incorporator 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1308390 Serinc3 serine incorporator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1308391 Mzf1 myeloid zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308392 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:0111944 immunodeficiency 31B ISO RGD:1318134 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1308392 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:630 genetic disease ISO RGD:1318134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093 1308392 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:8398 osteoarthritis ISO RGD:1318134 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1308392 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318134 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308392 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:7240710 20130221 OMIM 1308392 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency PMID:16199547|PMID:17160907|PMID:17576681|PMID:24033266|PMID:24299452|PMID:25251209|PMID:25591832|PMID:25741868|PMID:26026795|PMID:26163321|PMID:27435318|PMID:27896122|PMID:28454995|PMID:28492532|PMID:29703962|PMID:30111474|PMID:32022391|PMID:32677093|PMID:33762937|PMID:7122152|PMID:9536098 1308393 Fbxo46 F-box protein 46 gene DOID:630 genetic disease ISO RGD:1318136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308395 Tp53i11 tumor protein p53 inducible protein 11 gene DOID:1059 intellectual disability ISO RGD:1318140 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308396 Nop9 NOP9 nucleolar protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1308396 Nop9 NOP9 nucleolar protein gene DOID:630 genetic disease ISO RGD:1318142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308396 Nop9 NOP9 nucleolar protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1308396 Nop9 NOP9 nucleolar protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308396 Nop9 NOP9 nucleolar protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:0050777 Joubert syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:1826 epilepsy ISO RGD:1603823 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:630 genetic disease ISO RGD:1603823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308398 Lrrc26 leucine rich repeat containing 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308399 Tmem80 transmembrane protein 80 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1308399 Tmem80 transmembrane protein 80 gene DOID:0050729 neutral lipid storage disease ISO RGD:1603868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1308399 Tmem80 transmembrane protein 80 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603868 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1308399 Tmem80 transmembrane protein 80 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603868 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1308399 Tmem80 transmembrane protein 80 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1308399 Tmem80 transmembrane protein 80 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603868 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1308399 Tmem80 transmembrane protein 80 gene DOID:630 genetic disease ISO RGD:1603868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308399 Tmem80 transmembrane protein 80 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603868 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1308400 Chst11 carbohydrate sulfotransferase 11 gene DOID:0050581 brachydactyly ISO RGD:1318147 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:29514872 1308400 Chst11 carbohydrate sulfotransferase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318147 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308400 Chst11 carbohydrate sulfotransferase 11 gene DOID:2256 osteochondrodysplasia ISO RGD:1318147 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:29514872 1308400 Chst11 carbohydrate sulfotransferase 11 gene DOID:630 genetic disease ISO RGD:1318147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308400 Chst11 carbohydrate sulfotransferase 11 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318147 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:29514872 1308401 Lyzl4 lysozyme-like 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1348547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1308401 Lyzl4 lysozyme-like 4 gene DOID:630 genetic disease ISO RGD:1348547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308402 Osbpl5 oxysterol binding protein-like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1308402 Osbpl5 oxysterol binding protein-like 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318150 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1308402 Osbpl5 oxysterol binding protein-like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1308402 Osbpl5 oxysterol binding protein-like 5 gene DOID:630 genetic disease ISO RGD:1318150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:7240710 20190315 OMIM 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome PMID:11960835|PMID:25741868|PMID:28492532|PMID:29518281|PMID:29604224|PMID:34906502 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:3652 Leigh disease ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:630 genetic disease ISO RGD:1318152 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24776741|PMID:25741868|PMID:28492532|PMID:29518281|PMID:9536098 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:9004657 Weight Gain ISO RGD:1318152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1308403 Vps13d vacuolar protein sorting 13 homolog D gene DOID:9008386 Hydrops Fetalis ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1308404 Acbd4 acyl-CoA binding domain containing 4 gene DOID:630 genetic disease ISO RGD:1318153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308404 Acbd4 acyl-CoA binding domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318153 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308406 Ncapg2 non-SMC condensin II complex, subunit G2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 1308406 Ncapg2 non-SMC condensin II complex, subunit G2 gene DOID:12849 autistic disorder ISO RGD:1603208 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308406 Ncapg2 non-SMC condensin II complex, subunit G2 gene DOID:14330 Parkinson's disease ISO RGD:1603208 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 1308406 Ncapg2 non-SMC condensin II complex, subunit G2 gene DOID:630 genetic disease ISO RGD:1603208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308406 Ncapg2 non-SMC condensin II complex, subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:7240710 20190626 OMIM 1308406 Ncapg2 non-SMC condensin II complex, subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3K SYNDROME PMID:25741868|PMID:28492532|PMID:30609410 1308407 Mettl7a methyltransferase like 7A gene DOID:0080600 COVID-19 ISO RGD:1601879 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308407 Mettl7a methyltransferase like 7A gene DOID:289 endometriosis ISO RGD:1601879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1308408 Hapln4 hyaluronan and proteoglycan link protein 4 gene DOID:630 genetic disease ISO RGD:1348635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308408 Hapln4 hyaluronan and proteoglycan link protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1348635 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:0111027 hemochromatosis type 2A ISO RGD:1347090 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1347090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:1540 parathyroid carcinoma ISO RGD:1347090 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:5419 schizophrenia ISO RGD:1347090 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:630 genetic disease ISO RGD:1347090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:9008939 Breast Neoplasms ISO RGD:1347090 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1308412 Ankrd34a ankyrin repeat domain 34A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347090 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318165 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:630 genetic disease ISO RGD:1318165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308413 Krtcap2 keratinocyte associated protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318165 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308414 Larp6 La ribonucleoprotein 6, translational regulator gene DOID:2717 Bloom syndrome ISO RGD:1605069 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308414 Larp6 La ribonucleoprotein 6, translational regulator gene DOID:630 genetic disease ISO RGD:1605069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308414 Larp6 La ribonucleoprotein 6, translational regulator gene DOID:9256 colorectal cancer ISO RGD:1605069 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308415 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1318169 D RGD:13592920 20200611 MouseDO 1308415 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308415 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:630 genetic disease ISO RGD:1318168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308415 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318168 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308415 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308416 Jph3 junctophilin 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1308416 Jph3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:7240710 20130221 OMIM 1308416 Jph3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Huntington disease-like 2 PMID:25741868|PMID:28492532 1308416 Jph3 junctophilin 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1308416 Jph3 junctophilin 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318170 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1308416 Jph3 junctophilin 3 gene DOID:630 genetic disease ISO RGD:1318170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308416 Jph3 junctophilin 3 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1318170 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 1308416 Jph3 junctophilin 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318170 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1308416 Jph3 junctophilin 3 gene DOID:9007980 Sleep Deprivation ISO RGD:1318171 D RGD:6480426|PMID:18077435 20120321 RGD mRNA:increased expression:brain 1308416 Jph3 junctophilin 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1308417 Hoxd13 homeo box D13 gene DOID:0050581 brachydactyly ISO RGD:1318172 D RGD:12743593|PMID:12649808 20170208 RGD DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) 1308417 Hoxd13 homeo box D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1308417 Hoxd13 homeo box D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:7240710 20130221 OMIM 1308417 Hoxd13 homeo box D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome PMID:17236141|PMID:22233338|PMID:23995701|PMID:25741868 1308417 Hoxd13 homeo box D13 gene DOID:0060242 synpolydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly PMID:22233338|PMID:25741868 1308417 Hoxd13 homeo box D13 gene DOID:0060242 synpolydactyly ISS RGD:1318173 D RGD:13592920 20180518 MouseDO OMIM:186000 | OMIM:608180 | OMIM:610234 1308417 Hoxd13 homeo box D13 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1308417 Hoxd13 homeo box D13 gene DOID:0110967 brachydactyly type A4 ISO RGD:1318172 D RGD:12738470|PMID:17236141 20170208 RGD DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) 1308417 Hoxd13 homeo box D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1308417 Hoxd13 homeo box D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:7240710 20130221 OMIM 1308417 Hoxd13 homeo box D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brachydactyly type D PMID:12620993|PMID:12649808|PMID:16314414|PMID:25741868|PMID:28492532 1308417 Hoxd13 homeo box D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1308417 Hoxd13 homeo box D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:7240710 20130221 OMIM 1308417 Hoxd13 homeo box D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type E1 PMID:12620993|PMID:12649808|PMID:16314414|PMID:22233338|PMID:25741868|PMID:28492532 1308417 Hoxd13 homeo box D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1308417 Hoxd13 homeo box D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:12738470|PMID:17236141 20170206 RGD DNA:missense mutation:exon:p.Q317R (c.950A>G) 1308417 Hoxd13 homeo box D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:7240710 20130221 OMIM 1308417 Hoxd13 homeo box D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 PMID:15333588|PMID:16222680|PMID:17236141|PMID:215242|PMID:25741868|PMID:28492532|PMID:9207113 1308417 Hoxd13 homeo box D13 gene DOID:10892 hypospadias IEP D RGD:12743602|PMID:27079746 20170209 RGD mRNA:decreased expression:male genital tubercle 1308417 Hoxd13 homeo box D13 gene DOID:11193 syndactyly ISO RGD:1318172 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 1308417 Hoxd13 homeo box D13 gene DOID:11383 cryptorchidism ISO RGD:1318172 D RGD:12743597|PMID:17216618 20170208 RGD DNA:splice-site mutation:exon:180A>G (human) 1308417 Hoxd13 homeo box D13 gene DOID:1148 polydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:22233338|PMID:25741868 1308417 Hoxd13 homeo box D13 gene DOID:1148 polydactyly ISO RGD:1318173 D RGD:12738144|PMID:17266131 20170209 RGD 1308417 Hoxd13 homeo box D13 gene DOID:11836 clubfoot ISO RGD:1318172 D RGD:12743594|PMID:16331564 20170208 RGD DNA:SNP:exon:rs13392701 (human) 1308417 Hoxd13 homeo box D13 gene DOID:1227 neutropenia ISO RGD:1318172 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 1308417 Hoxd13 homeo box D13 gene DOID:14679 VACTERL association ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19006232 1308417 Hoxd13 homeo box D13 gene DOID:14679 VACTERL association ISO RGD:1318172 D RGD:8554872 20160126 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:19006232 1308417 Hoxd13 homeo box D13 gene DOID:2355 anemia ISO RGD:1318172 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 1308417 Hoxd13 homeo box D13 gene DOID:614 lymphopenia ISO RGD:1318172 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 1308417 Hoxd13 homeo box D13 gene DOID:630 genetic disease ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22233338|PMID:25741868 1308417 Hoxd13 homeo box D13 gene DOID:7148 rheumatoid arthritis ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1308417 Hoxd13 homeo box D13 gene DOID:9001471 Anorectal Malformations IEP D RGD:12743602|PMID:27079746 20170209 RGD mRNA:decreased expression:rectum 1308417 Hoxd13 homeo box D13 gene DOID:9001471 Anorectal Malformations IEP D RGD:1599527|PMID:17161201 20170208 RGD mRNA:decreased expression:hindgut 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:11098032|PMID:21814222 20170202 RGD DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human) 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:11098055|PMID:24055421 20170202 RGD DNA:splice-site mutation:intron:c.781+1G>A (human) 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:11098288|PMID:23948678 20170202 RGD DNA:missense mutation:exon:p.G220A (c.659G>C) (human) 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:11098998|PMID:22374128 20170202 RGD DNA:missense mutation:exon:p.R298Q (c.893G>A) (human) 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:12738375|PMID:15952114 20170202 RGD DNA:insertion:exon 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:12738399|PMID:12620993 20170202 RGD DNA:missense mutation:exon:p.I314L (940A>C) (human) 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:12743595|PMID:27254532 20170208 RGD DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human) 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:1599534|PMID:8817328 20070207 RGD DNA:duplication:CDS 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:7240710 20180822 OMIM 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:12414828|PMID:12900906|PMID:14698619|PMID:15333588|PMID:15917204|PMID:16222680|PMID:18399101|PMID:19060004|PMID:215242|PMID:21814222|PMID:22233338|PMID:22373878|PMID:22374128|PMID:23948678|PMID:24055421|PMID:24789103|PMID:25741868|PMID:28492532|PMID:30408610|PMID:7666393|PMID:8620844|PMID:8817328|PMID:9207113|PMID:9758628 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318173 D RGD:12738377|PMID:11543619 20170202 RGD DNA:insertion:exon 1308417 Hoxd13 homeo box D13 gene DOID:9005586 Synpolydactyly 1 severity ISO RGD:1318172 D RGD:12743592|PMID:9207113 20170208 RGD DNA:insertion:exon 1308417 Hoxd13 homeo box D13 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1318172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8620844 1308417 Hoxd13 homeo box D13 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1318172 D RGD:12743596|PMID:22233338 20170208 RGD DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) 1308418 Smap2 small ArfGAP2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601981 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308418 Smap2 small ArfGAP2 gene DOID:630 genetic disease ISO RGD:1601981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308419 Rora RAR-related orphan receptor A gene DOID:1059 intellectual disability ISO RGD:1318175 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:29656859 1308419 Rora RAR-related orphan receptor A gene DOID:12849 autistic disorder ISO RGD:1318175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20375269|PMID:21359227 1308419 Rora RAR-related orphan receptor A gene DOID:2717 Bloom syndrome ISO RGD:1318175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308419 Rora RAR-related orphan receptor A gene DOID:630 genetic disease ISO RGD:1318175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29656859 1308419 Rora RAR-related orphan receptor A gene DOID:9000217 Stomach Neoplasms ISO RGD:1318175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1308419 Rora RAR-related orphan receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318175 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308419 Rora RAR-related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:7240710 20190315 OMIM 1308419 Rora RAR-related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29656859|PMID:29758562 1308419 Rora RAR-related orphan receptor A gene DOID:9256 colorectal cancer ISO RGD:1318175 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308420 Mcoln3 mucolipin TRP cation channel 3 gene DOID:630 genetic disease ISO RGD:1318177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308421 Cyb5r2 cytochrome b5 reductase 2 gene DOID:630 genetic disease ISO RGD:1602002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308422 Muc16 mucin 16, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:1346263 D RGD:7349375|PMID:22089171 20130923 RGD protein:increased expression:tear 1308422 Muc16 mucin 16, cell surface associated gene DOID:1227 neutropenia ISO RGD:1346263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1308422 Muc16 mucin 16, cell surface associated gene DOID:12849 autistic disorder ISO RGD:1346263 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308422 Muc16 mucin 16, cell surface associated gene DOID:12894 Sjogren's syndrome ISO RGD:1346263 D RGD:7364772|PMID:19122828 20130926 RGD mRNA, protein:increased expression:conjunctival epithelial cell, tear 1308422 Muc16 mucin 16, cell surface associated gene DOID:1324 lung cancer ISO RGD:1346263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1308422 Muc16 mucin 16, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:1346263 D RGD:2325129|PMID:19377061 20100520 RGD protein:increased expression:serum 1308422 Muc16 mucin 16, cell surface associated gene DOID:2394 ovarian cancer treatment ISO RGD:1346263 D RGD:7364774|PMID:18641636 20130926 RGD 1308422 Muc16 mucin 16, cell surface associated gene DOID:4001 ovarian carcinoma IEP D RGD:2325203|PMID:20356397 20100525 RGD 1308422 Muc16 mucin 16, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:1346263 D RGD:2325142|PMID:1653472 20100520 RGD associated with Opisthorchiasis;protein:increased expression:serum 1308422 Muc16 mucin 16, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:1346263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 1308422 Muc16 mucin 16, cell surface associated gene DOID:576 proteinuria ISO RGD:1346263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12169874 1308422 Muc16 mucin 16, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1346263 D RGD:2325132|PMID:17542293 20100520 RGD protein:increased expression:serum 1308422 Muc16 mucin 16, cell surface associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346263 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11706781 1308422 Muc16 mucin 16, cell surface associated gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1346263 D RGD:2325134|PMID:1657243 20100520 RGD protein:increased expression:serum,bile 1308422 Muc16 mucin 16, cell surface associated gene DOID:9005172 Lung Neoplasms ISO RGD:1346263 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29552305 1308422 Muc16 mucin 16, cell surface associated gene DOID:9368 keratoconjunctivitis ISO RGD:1346263 D RGD:7364735|PMID:18782111 20130925 RGD mRNA:increased expression:conjunctival epithelial cell 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:0050444 infantile Refsum disease ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:630 genetic disease ISO RGD:1318181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:7240710 20221221 OMIM 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy PMID:25741868|PMID:29648665|PMID:35759269 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:1318181 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868|PMID:29648665|PMID:35759269 1308423 Taf8 TATA-box binding protein associated factor 8 gene DOID:905 Zellweger syndrome ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308424 Agmat agmatinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308424 Agmat agmatinase gene DOID:630 genetic disease ISO RGD:1318183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308424 Agmat agmatinase gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318183 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:21464306|PMID:517579 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0110842 Usher syndrome type 3B ISO RGD:1352732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532|PMID:31827252 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:7240710 20140911 OMIM 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perrault syndrome 2 PMID:21464306|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31449985|PMID:31486067|PMID:31827252|PMID:34416374|PMID:517579 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352732 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308426 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308428 Garre1 granule associated Rac and RHOG effector 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308428 Garre1 granule associated Rac and RHOG effector 1 gene DOID:630 genetic disease ISO RGD:1318189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050563 nonsyndromic deafness ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:23541342|PMID:28492532|PMID:30311386|PMID:30737337 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26970254|PMID:27650058|PMID:28492532|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32747562|PMID:32767731|PMID:34997062 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:5426 primary ovarian insufficiency ISO RGD:1318191 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23541342|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30831263 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:699 mitochondrial myopathy ISO RGD:1318191 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:28430790|PMID:28492532|PMID:32442335 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:7240710 20190315 OMIM 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia PMID:23541342|PMID:24033266|PMID:25741868|PMID:26537577|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28832386|PMID:30737337|PMID:32442335|PMID:32747562 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:7240710 20140911 OMIM 1308429 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 4 PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26657938|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28708303|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32399598|PMID:32442335|PMID:32747562 1308430 C15h14orf119 similar to human chromosome 14 open reading frame 119 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1308430 C15h14orf119 similar to human chromosome 14 open reading frame 119 gene DOID:0080600 COVID-19 ISO RGD:1318193 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308430 C15h14orf119 similar to human chromosome 14 open reading frame 119 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1308430 C15h14orf119 similar to human chromosome 14 open reading frame 119 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308431 Tor1b torsin family 1, member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308431 Tor1b torsin family 1, member B gene DOID:630 genetic disease ISO RGD:1318195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308431 Tor1b torsin family 1, member B gene DOID:9001488 Human Influenza ISO RGD:1318195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1308432 Mios meiosis regulator for oocyte development gene DOID:630 genetic disease ISO RGD:1601868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308433 Hsdl1 hydroxysteroid dehydrogenase like 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1354077 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1308433 Hsdl1 hydroxysteroid dehydrogenase like 1 gene DOID:630 genetic disease ISO RGD:1354077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308433 Hsdl1 hydroxysteroid dehydrogenase like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308434 Psmd5 proteasome 26S subunit, non-ATPase 5 gene DOID:630 genetic disease ISO RGD:1318199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318201 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:1883 hepatitis C ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:2043 hepatitis B ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318201 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24716982 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:630 genetic disease ISO RGD:1318201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:893 Wilson disease ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1308435 Loxl2 lysyl oxidase-like 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330836|PMID:24014025 1308437 Srp19 signal recognition particle 19 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1318204 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 1308437 Srp19 signal recognition particle 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308437 Srp19 signal recognition particle 19 gene DOID:630 genetic disease ISO RGD:1318204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308437 Srp19 signal recognition particle 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318204 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308437 Srp19 signal recognition particle 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1318206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1318206 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1318206 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1318206 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1318206 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1318206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318206 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1308438 Usp5 ubiquitin specific peptidase 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1318206 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1308439 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318207 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1308439 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1318207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1308439 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:630 genetic disease ISO RGD:1318207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308439 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:9005834 Ependymomas ISO RGD:1318207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 1308441 Dennd1b DENN domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1318210 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1308441 Dennd1b DENN domain containing 1B gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1318210 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 1308441 Dennd1b DENN domain containing 1B gene DOID:12236 primary biliary cholangitis ISO RGD:1318210 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 1308441 Dennd1b DENN domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1318210 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308441 Dennd1b DENN domain containing 1B gene DOID:630 genetic disease ISO RGD:1318210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308441 Dennd1b DENN domain containing 1B gene DOID:8778 Crohn's disease ISO RGD:1318210 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 1308441 Dennd1b DENN domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318210 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308442 Lsm8 LSM8 homolog, U6 small nuclear RNA associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318211 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308443 Nkx2-2 NK2 homeobox 2 gene DOID:3213 demyelinating disease IEP D RGD:2306244|PMID:15048854 20090327 RGD protein:increased expression:oligodendrocyte 1308443 Nkx2-2 NK2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1318213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308444 Ugt2a3 UDP glucuronosyltransferase family 2 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1605934 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308444 Ugt2a3 UDP glucuronosyltransferase family 2 member A3 gene DOID:630 genetic disease ISO RGD:1605934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308444 Ugt2a3 UDP glucuronosyltransferase family 2 member A3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1308445 Asb6 ankyrin repeat and SOCS box-containing 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308445 Asb6 ankyrin repeat and SOCS box-containing 6 gene DOID:630 genetic disease ISO RGD:1318216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308446 Zdhhc22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:1059 intellectual disability ISO RGD:1318218 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1308446 Zdhhc22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:630 genetic disease ISO RGD:1318218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318219 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1318219 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308447 Rab25 RAB25, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318219 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308448 Plcxd3 phosphatidylinositol-specific phospholipase C, X domain containing 3 gene DOID:630 genetic disease ISO RGD:1604168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308448 Plcxd3 phosphatidylinositol-specific phospholipase C, X domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604168 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308449 Septin8 septin 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308449 Septin8 septin 8 gene DOID:630 genetic disease ISO RGD:1318222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308449 Septin8 septin 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318222 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308449 Septin8 septin 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308450 Sgo2 shugoshin 2 gene DOID:630 genetic disease ISO RGD:1318224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308450 Sgo2 shugoshin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318224 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1308450 Sgo2 shugoshin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318224 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308451 Zfp217 zinc finger protein 217 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1318226 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 1308451 Zfp217 zinc finger protein 217 gene DOID:13938 amenorrhea ISO RGD:1318226 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1308451 Zfp217 zinc finger protein 217 gene DOID:630 genetic disease ISO RGD:1318226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308452 Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352215 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308452 Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1352215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308452 Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1352215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1308453 Rbx1 ring-box 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1318229 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1308453 Rbx1 ring-box 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1308453 Rbx1 ring-box 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1308453 Rbx1 ring-box 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318229 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 1308453 Rbx1 ring-box 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 1308454 Potec POTE ankyrin domain family, member C gene DOID:1059 intellectual disability ISO RGD:2291751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308455 Tmx1 thioredoxin-related transmembrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1318232 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1308455 Tmx1 thioredoxin-related transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1318232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:15338398|PMID:15906409|PMID:18436095|PMID:18503012|PMID:19406966|PMID:20172850|PMID:20507940|PMID:22584503|PMID:23949594|PMID:25741868|PMID:26467025|PMID:27594755|PMID:28117080|PMID:28476686|PMID:28492532|PMID:29127259|PMID:30963316|PMID:31216994|PMID:9660941|PMID:9915943 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:1184 nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:18503012|PMID:20507940|PMID:22584503|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30963316 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318234 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19406966|PMID:25741868|PMID:26467025|PMID:28492532 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:1826 epilepsy ISO RGD:1318234 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:2590 familial nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome PMID:18436095|PMID:19406966|PMID:25741868|PMID:26467025|PMID:28117080|PMID:28476686|PMID:28492532|PMID:31216994 1308456 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308457 Orc3 origin recognition complex, subunit 3 gene DOID:630 genetic disease ISO RGD:1318236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308458 Dcaf13 DDB1 and CUL4 associated factor 13 gene DOID:0111590 Cohen syndrome ISO RGD:1604028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1308458 Dcaf13 DDB1 and CUL4 associated factor 13 gene DOID:630 genetic disease ISO RGD:1604028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308460 Rnf149 ring finger protein 149 gene DOID:630 genetic disease ISO RGD:1318240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308461 Meak7 MTOR associated protein, eak-7 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605650 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1308461 Meak7 MTOR associated protein, eak-7 homolog gene DOID:630 genetic disease ISO RGD:1605650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308462 Asb3 ankyrin repeat and SOCS box-containing 3 gene DOID:630 genetic disease ISO RGD:1318243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308463 Imp4 IMP U3 small nucleolar ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1605599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308464 Tcf15 transcription factor 15 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 1308464 Tcf15 transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1308464 Tcf15 transcription factor 15 gene DOID:630 genetic disease ISO RGD:1318246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308464 Tcf15 transcription factor 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318246 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308464 Tcf15 transcription factor 15 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1318246 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1062 Fanconi syndrome IMP D RGD:155630629|PMID:35695380 20230221 RGD 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis IMP D RGD:155630629|PMID:35695380 20230221 RGD 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:11064664|PMID:9792862 20170627 RGD DNA:mutations:multiple (human) 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15879904 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:12910865|PMID:10068513 20170627 RGD DNA:deletion:exons, introns (human) 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:12910936|PMID:11565547 20170628 RGD DNA:missense mutation:cds:p.G339R (human) 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:7240710 20131030 OMIM 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:21963264|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24385851|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27451386|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29127259|PMID:29421779|PMID:29467429|PMID:30554218|PMID:30609409|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318251 D RGD:12910868|PMID:12370309 20170627 RGD 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis susceptibility ISO RGD:1318250 D RGD:1601022|PMID:9537412 20070403 RGD DNA:mutations:multiple (human) 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis treatment ISO RGD:1318250 D RGD:12910866|PMID:18578013 20170627 RGD human gene in a mouse model 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:1184 nephrotic syndrome ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10556299|PMID:19580442|PMID:24464559|PMID:29127259 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:3613 Canavan disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:630 genetic disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002476 Infantile Nephropathic Cystinosis ISO RGD:1318250 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Infantile nephropathic cystinosis PMID:10556299|PMID:11562417|PMID:12204010|PMID:12442267|PMID:19863563|PMID:21786142|PMID:22450360|PMID:25326109|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002525 Hereditary Eye Diseases treatment ISO RGD:1318250 D RGD:11354731|PMID:26540660 20170627 RGD associated with Cystinosis;human gene in a mouse model 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:7240710 20130221 OMIM 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:12910937|PMID:10625078 20170628 RGD DNA:deletions, snps, missense mutation:multiple (human) 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:7240710 20130221 OMIM 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:33532864|PMID:33822926|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 1308466 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318252 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318252 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:27486781|PMID:28492532 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:1059 intellectual disability ISO RGD:1318252 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:7736 retinal telangiectasia ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal telangiectasis PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:7765 Coats disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:7240710 20190315 OMIM 1308467 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies PMID:25741868|PMID:26908610|PMID:27486781|PMID:28492532|PMID:31494449 1308468 Nmd3 NMD3 ribosome export adaptor gene DOID:10283 prostate cancer ISO RGD:1348373 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308468 Nmd3 NMD3 ribosome export adaptor gene DOID:630 genetic disease ISO RGD:1348373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308469 Rpl7l1 ribosomal protein L7-like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308469 Rpl7l1 ribosomal protein L7-like 1 gene DOID:630 genetic disease ISO RGD:1352288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308469 Rpl7l1 ribosomal protein L7-like 1 gene DOID:905 Zellweger syndrome ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308470 Gskip GSK3B interacting protein gene DOID:0070004 myeloid neoplasm ISO RGD:1318256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 1308470 Gskip GSK3B interacting protein gene DOID:2224 essential thrombocythemia ISO RGD:1318256 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 1308470 Gskip GSK3B interacting protein gene DOID:4971 myelofibrosis ISO RGD:1318256 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 1308470 Gskip GSK3B interacting protein gene DOID:630 genetic disease ISO RGD:1318256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308470 Gskip GSK3B interacting protein gene DOID:8692 myeloid leukemia ISO RGD:1318256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 1308470 Gskip GSK3B interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:1318256 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:1558665|PMID:12754701 20070511 RGD 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:1600439|PMID:9731530 20070308 RGD DNA:deletion:exon:722delT, 1523delAG (human) 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:1624402|PMID:9921896 20070511 RGD DNA:missense mutations, splice site mutation, frameshift mutation: :multiple 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:7240710 20160120 OMIM 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:10327149|PMID:11891227|PMID:12754701|PMID:16021469|PMID:16199547|PMID:17576681|PMID:20573177|PMID:21031595|PMID:22403017|PMID:25640679|PMID:25741868|PMID:27289259|PMID:28274890|PMID:28492532|PMID:28600779|PMID:29274890|PMID:30695801|PMID:32014857|PMID:32099439|PMID:33552910|PMID:7660932|PMID:9536098|PMID:9634514|PMID:9731530|PMID:9921896 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1318258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:28492532 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:1059 intellectual disability ISO RGD:1318258 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:630 genetic disease ISO RGD:1318258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9921896 1308471 Mocs1 molybdenum cofactor synthesis 1 gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:12754701|PMID:16021469|PMID:16199547|PMID:25741868|PMID:28492532 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16380913|PMID:20177705|PMID:23757202|PMID:25741868|PMID:28492532 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:7240710 20171011 OMIM 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:22353939|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25741868|PMID:26518167|PMID:27486776|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:30773290|PMID:31054281|PMID:31488071|PMID:31888296|PMID:9536098 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1603660 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:1059 intellectual disability ISO RGD:1603660 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26355662|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:31054281|PMID:31488071|PMID:31888296|PMID:32686083|PMID:33138063|PMID:33616283|PMID:33964006|PMID:9536098 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603660 D RGD:9684996|PMID:16380913 20141215 RGD DNA:mutations:multiple: 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis ISO RGD:1603660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis susceptibility ISO RGD:1603660 D RGD:9684995|PMID:23160099 20141215 RGD DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603660 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:5419 schizophrenia ISO RGD:1603660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1603660 D RGD:9684994|PMID:18349106 20141215 RGD DNA:SNPs,haplotypes: : 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:630 genetic disease ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31888296 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:8501 fundus dystrophy ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16380913|PMID:20177705|PMID:28492532 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603660 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308472 Bbs9 Bardet-Biedl syndrome 9 gene DOID:9008296 Eye Abnormalities ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16380913|PMID:20177705|PMID:24746959|PMID:25741868|PMID:27708425|PMID:28492532 1308473 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1318261 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs3757417) G>T (human) 1308473 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318261 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308473 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1318261 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308473 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 1308473 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318261 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308473 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1318261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:0050908 myelodysplastic syndrome ISS RGD:1318264 D RGD:13592920 20180518 MouseDO OMIM:614286 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:0080600 COVID-19 ISO RGD:1318263 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:2234 focal epilepsy ISO RGD:1318263 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:630 genetic disease ISO RGD:1318263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318263 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1308474 Mybl2 MYB proto-oncogene like 2 gene DOID:9119 acute myeloid leukemia ISS RGD:1318264 D RGD:13592920 20180518 MouseDO OMIM:601626 1308475 Zfp579 zinc finger protein 579 gene DOID:630 genetic disease ISO RGD:1318265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050770 polycystic liver disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050770 polycystic liver disease ISO RGD:1318267 D RGD:14700921|PMID:18202188 20190827 RGD 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050876 Caroli disease ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:1189128|PMID:11898128|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:21228398|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492530|PMID:28492532|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:7240710 20180523 OMIM 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21493627|PMID:22034641|PMID:22415584|PMID:22882926|PMID:23389334|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741895|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26862157|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34536170|PMID:35627109|PMID:35812281|PMID:9536098 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318267 D RGD:1642440|PMID:15067314 20070917 RGD mRNA:decreased expression:kidney 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:70439|PMID:11919560 20210416 RGD 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:1642441|PMID:14983006 20070917 RGD protein:decreased expression:kidney 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16133180|PMID:18988797|PMID:19524688|PMID:21685914 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34426522|PMID:9536098 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30017326|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34405919|PMID:34426522|PMID:34536170|PMID:35627109|PMID:35812281|PMID:9536098 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318267 D RGD:14700917|PMID:17519956 20190827 RGD DNA:deletion:exon: 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:1318266 D RGD:11062506|PMID:12874454 20190903 RGD DNA:missense mutations:cds: 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility IAGP D RGD:70439|PMID:11919560 20070917 RGD DNA:splice site mutation:intron:IVS35-2A>T 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1318266 D RGD:70439|PMID:11919560 20070917 RGD DNA:missense mutations, nonsense mutations: :multiple 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:10283 prostate cancer ISO RGD:1318266 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:12215 oligohydramnios ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864|PMID:35005812 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:219 colon cancer ISO RGD:1318266 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:2975 cystic kidney disease ISO RGD:1318266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868|PMID:27225849|PMID:28492532 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:5082 liver cirrhosis ISO RGD:1318267 D RGD:14700917|PMID:17519956 20190827 RGD DNA:deletion:exon: 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:557 kidney disease ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:19914852|PMID:19940839|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:630 genetic disease ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318267 D RGD:14700991|PMID:15830394 20190903 RGD DNA:deletion:exon: 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9002851 Medullary Sponge Kidney ISO RGD:1318267 D RGD:14700919|PMID:30600684 20190827 RGD 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9005318 Isolated Caroli Disease ISO RGD:1318266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree PMID:1189128|PMID:11898128|PMID:12874454|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:14700917|PMID:17519956 20190827 RGD DNA:deletion:exon: 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:14700921|PMID:18202188 20190827 RGD 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318266 D RGD:14700992|PMID:30507656 20190903 RGD DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human) 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318267 D RGD:14700919|PMID:30600684 20190827 RGD 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9007479 Habitual Abortions ISO RGD:1318266 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9263 homocystinuria ISO RGD:1318266 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: CBS deficiency PMID:25741868 1308476 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9446 cholangitis ISO RGD:1318267 D RGD:14700923|PMID:29158418 20190827 RGD 1308477 Drap1 Dr1 associated protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1318268 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1308477 Drap1 Dr1 associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1318268 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308477 Drap1 Dr1 associated protein 1 gene DOID:1909 melanoma ISO RGD:1318268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1308477 Drap1 Dr1 associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1308477 Drap1 Dr1 associated protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1308477 Drap1 Dr1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308477 Drap1 Dr1 associated protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1308477 Drap1 Dr1 associated protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607017 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:630 genetic disease ISO RGD:1607017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308478 Slc50a1 solute carrier family 50 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607017 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1318271 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:1826 epilepsy ISO RGD:1318271 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:630 genetic disease ISO RGD:1318271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308479 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308481 Sdr42e1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:630 genetic disease ISO RGD:1601729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308481 Sdr42e1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308482 Sfxn1 sideroflexin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318276 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308482 Sfxn1 sideroflexin 1 gene DOID:630 genetic disease ISO RGD:1318276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308482 Sfxn1 sideroflexin 1 gene DOID:9006205 Animal Disease Models ISO RGD:1318276 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308482 Sfxn1 sideroflexin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318276 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11781871|PMID:12522768 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:7240710 20130221 OMIM 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318279 D RGD:13208515|PMID:12915479 20170809 RGD 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318278 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12522768 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9686382 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17576681|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9536098|PMID:9686382 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:1059 intellectual disability ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1318278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9090381 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:630 genetic disease ISO RGD:1318278 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10527683|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:17576681|PMID:20145307|PMID:20301447|PMID:23572185|PMID:24172221|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9090381|PMID:9472033|PMID:9536098 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:65 connective tissue disease ISO RGD:1318278 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12325024|PMID:12522768|PMID:20301447|PMID:25741868|PMID:26467025|PMID:28492532 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:7240710 20141015 OMIM 1308483 Pex7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23462609|PMID:23572185|PMID:24172221|PMID:25640679|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 1308485 Triobp TRIO and F-actin binding protein gene DOID:0050563 nonsyndromic deafness ISO RGD:1605399 D RGD:8554872 20160607 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 1308485 Triobp TRIO and F-actin binding protein gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1605399 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 1308485 Triobp TRIO and F-actin binding protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1308485 Triobp TRIO and F-actin binding protein gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605399 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308485 Triobp TRIO and F-actin binding protein gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1605399 D RGD:7240710 20130221 OMIM 1308485 Triobp TRIO and F-actin binding protein gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1605399 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:16385457|PMID:16385458|PMID:20510926|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26872740|PMID:26969326|PMID:27014650|PMID:27068579|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30303587|PMID:30311386|PMID:31178897|PMID:35802133|PMID:36633841 1308485 Triobp TRIO and F-actin binding protein gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308485 Triobp TRIO and F-actin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308485 Triobp TRIO and F-actin binding protein gene DOID:630 genetic disease ISO RGD:1605399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1308485 Triobp TRIO and F-actin binding protein gene DOID:9004538 Hearing Loss ISO RGD:1605399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386 1308485 Triobp TRIO and F-actin binding protein gene DOID:9004538 Hearing Loss ISO RGD:1605399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16385457|PMID:16385458|PMID:20510926|PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386 1308485 Triobp TRIO and F-actin binding protein gene DOID:9008681 Deafness ISO RGD:1605399 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1308487 Kif12 kinesin family member 12 gene DOID:10283 prostate cancer ISO RGD:1318282 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308487 Kif12 kinesin family member 12 gene DOID:630 genetic disease ISO RGD:1318282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308487 Kif12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:7240710 20211222 OMIM 1308487 Kif12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 PMID:25741868|PMID:30250217|PMID:30976738|PMID:34555379 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1318284 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:25741868|PMID:26382629|PMID:26858187|PMID:26879107|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34543749|PMID:5807632|PMID:9500542|PMID:9918928 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:1318284 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:15239083|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:25741868|PMID:28492532 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20130221 OMIM 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease PMID:11093741|PMID:12149765|PMID:14976163|PMID:14988830|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:16374853|PMID:1774530|PMID:18937870|PMID:19731236|PMID:19918981|PMID:20038848|PMID:20232290|PMID:20852622|PMID:20981092|PMID:22525741|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26594346|PMID:26756876|PMID:26879107|PMID:27050426|PMID:28045770|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:30366773|PMID:32650689|PMID:33223529|PMID:33666275|PMID:5762004|PMID:5807632|PMID:9500542|PMID:9918928 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1318284 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:33223529 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:14401576|PMID:9918928 20190513 RGD DNA:missense mutation:cds:p.I661T (human) 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Summerskill syndrome PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:19918981|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26879107|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:33666275|PMID:5807632|PMID:7894490|PMID:9500542|PMID:9918928 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1318284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18379143 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:25741868|PMID:26879107|PMID:33666275|PMID:5807632|PMID:9500542|PMID:9918928 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:1318284 D RGD:1599397|PMID:9500542 20070201 RGD 1308488 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:630 genetic disease ISO RGD:1318284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14988830|PMID:15239083|PMID:20232290|PMID:25741868|PMID:28492532|PMID:33666275 1308489 Dennd4c DENN domain containing 4C gene DOID:630 genetic disease ISO RGD:1318285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308490 Pcdh1 protocadherin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308490 Pcdh1 protocadherin 1 gene DOID:630 genetic disease ISO RGD:1318287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308490 Pcdh1 protocadherin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318287 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308490 Pcdh1 protocadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308490 Pcdh1 protocadherin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318287 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1308491 Nkd1 NKD inhibitor of WNT signaling pathway 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1318289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1308491 Nkd1 NKD inhibitor of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1318289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308492 Rpain RPA interacting protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1308492 Rpain RPA interacting protein gene DOID:630 genetic disease ISO RGD:1604268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308493 Cfap20 cilia and flagella associated protein 20 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:35246562 1308493 Cfap20 cilia and flagella associated protein 20 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308493 Cfap20 cilia and flagella associated protein 20 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308493 Cfap20 cilia and flagella associated protein 20 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308493 Cfap20 cilia and flagella associated protein 20 gene DOID:630 genetic disease ISO RGD:1605686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308493 Cfap20 cilia and flagella associated protein 20 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605686 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1308494 Spast spastin gene DOID:0050952 spastic ataxia ISO RGD:1318293 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16240363|PMID:25741868|PMID:28492532 1308494 Spast spastin gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 1308494 Spast spastin gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1318293 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:26467025|PMID:28492532 1308494 Spast spastin gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1318293 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:25741868 1308494 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:7240710 20130221 OMIM 1308494 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19423133|PMID:19438933|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24451228|PMID:24478365|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30476002|PMID:30520996|PMID:30564185|PMID:30780198|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32989326|PMID:33098801|PMID:33624935|PMID:34008892|PMID:9536098|PMID:9695811 1308494 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 1308494 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:21896784|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25640679|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 1308494 Spast spastin gene DOID:1826 epilepsy ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:16832076|PMID:20932283|PMID:25741868|PMID:26467025|PMID:28492532 1308494 Spast spastin gene DOID:1969 cerebral palsy ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:11015453|PMID:11809724|PMID:15248095|PMID:15326248|PMID:16240363|PMID:16832076|PMID:17594340|PMID:17895902|PMID:17916079|PMID:17971434|PMID:18608088|PMID:18613979|PMID:18701882|PMID:18975132|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:22817815|PMID:23252998|PMID:24215330|PMID:25326637|PMID:25341883|PMID:25741868|PMID:26467025|PMID:27084228|PMID:27334366|PMID:28492532|PMID:28572275|PMID:29908077|PMID:30564185|PMID:31134136|PMID:34008892 1308494 Spast spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 1308494 Spast spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 1308494 Spast spastin gene DOID:607 paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16240363|PMID:17100993|PMID:20718791|PMID:20932283|PMID:23833562|PMID:24824479|PMID:25341883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 1308494 Spast spastin gene DOID:630 genetic disease ISO RGD:1318293 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10610178|PMID:10699187|PMID:11309678|PMID:11809724|PMID:12161613|PMID:12202986|PMID:14732620|PMID:15095758|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16240363|PMID:16682546|PMID:18202664|PMID:18701882|PMID:19875132|PMID:20562464|PMID:20932283|PMID:21888932|PMID:22552817|PMID:22960362|PMID:25045380|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26467025|PMID:26600529|PMID:27084228|PMID:27260292|PMID:27334366|PMID:27871443|PMID:28492532|PMID:29112992|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30564185|PMID:31227335|PMID:31594988|PMID:31630374|PMID:33624935|PMID:34753439 1308494 Spast spastin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318293 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:10610178|PMID:11309678|PMID:12161613|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16682546|PMID:17594340|PMID:17957230|PMID:18701882|PMID:19438933|PMID:20562464|PMID:20718791|PMID:25658484|PMID:25741868|PMID:26208798|PMID:27334366|PMID:28492532 1308494 Spast spastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318293 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1308494 Spast spastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318293 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308494 Spast spastin gene DOID:9007428 Muscle Spasticity ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:10699187|PMID:11809724|PMID:11843700|PMID:15841487|PMID:20214791|PMID:20718791|PMID:20932283|PMID:22960362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29761117|PMID:29934652 1308494 Spast spastin gene DOID:9007892 Tics ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor tics | ClinVar Annotator: match by term: Tics PMID:10493830|PMID:11039577|PMID:16788734|PMID:17100993|PMID:17971434|PMID:25741868|PMID:28492532|PMID:32989326 1308494 Spast spastin gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1318293 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 1308496 Mocos molybdenum cofactor sulfurase gene DOID:1059 intellectual disability ISO RGD:1318297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308496 Mocos molybdenum cofactor sulfurase gene DOID:12450 pancytopenia ISO RGD:1318297 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 1308496 Mocos molybdenum cofactor sulfurase gene DOID:2977 primary hyperoxaluria ISO RGD:1318297 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:25741868 1308496 Mocos molybdenum cofactor sulfurase gene DOID:630 genetic disease ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308496 Mocos molybdenum cofactor sulfurase gene DOID:865 vasculitis ISO RGD:1318297 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 1308496 Mocos molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 1308496 Mocos molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:7240710 20190315 OMIM 1308496 Mocos molybdenum cofactor sulfurase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:11302742|PMID:14624414|PMID:16199547|PMID:17368066|PMID:17576681|PMID:25741868|PMID:25967871|PMID:28492532|PMID:29935280|PMID:34440436|PMID:9536098 1308496 Mocos molybdenum cofactor sulfurase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318297 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 1308497 Kif20b kinesin family member 20B gene DOID:10907 microcephaly ISS RGD:1318299 D RGD:13592920 20180518 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 1308497 Kif20b kinesin family member 20B gene DOID:630 genetic disease ISO RGD:1318298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308498 Ogfrl1 opioid growth factor receptor-like 1 gene DOID:630 genetic disease ISO RGD:1318300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308499 Sp5 Sp5 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318302 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1308499 Sp5 Sp5 transcription factor gene DOID:630 genetic disease ISO RGD:1318302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308499 Sp5 Sp5 transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1308500 Rai1 retinoic acid induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1308500 Rai1 retinoic acid induced 1 gene DOID:0050777 Joubert syndrome ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1308500 Rai1 retinoic acid induced 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981775 1308500 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15459175|PMID:15746153|PMID:15788730|PMID:16845274|PMID:17273973|PMID:17517686|PMID:18285828|PMID:19116176|PMID:19236431|PMID:19752160|PMID:20691407|PMID:20981775 1308500 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:1599405|PMID:12652298 20070201 RGD DNA:deletions, frameshift mutations:cds: 1308500 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:7240710 20130221 OMIM 1308500 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:31690835 1308500 Rai1 retinoic acid induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17517686 1308500 Rai1 retinoic acid induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1318304 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1308500 Rai1 retinoic acid induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1308500 Rai1 retinoic acid induced 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868|PMID:27082237|PMID:28492532 1308500 Rai1 retinoic acid induced 1 gene DOID:1059 intellectual disability ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19752160 1308500 Rai1 retinoic acid induced 1 gene DOID:1059 intellectual disability ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 1308500 Rai1 retinoic acid induced 1 gene DOID:12849 autistic disorder ISO RGD:1318304 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308500 Rai1 retinoic acid induced 1 gene DOID:1909 melanoma ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1308500 Rai1 retinoic acid induced 1 gene DOID:2030 anxiety disorder ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 1308500 Rai1 retinoic acid induced 1 gene DOID:630 genetic disease ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21857958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29458409|PMID:8841119 1308500 Rai1 retinoic acid induced 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 1308500 Rai1 retinoic acid induced 1 gene DOID:9002111 Dyssomnias ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19752160 1308500 Rai1 retinoic acid induced 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 1308500 Rai1 retinoic acid induced 1 gene DOID:9006257 Growth Disorders ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 1308500 Rai1 retinoic acid induced 1 gene DOID:9007693 CAPOS Syndrome ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CAPOS syndrome PMID:25741868 1308500 Rai1 retinoic acid induced 1 gene DOID:9008582 Developmental Disease ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1308500 Rai1 retinoic acid induced 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 1308500 Rai1 retinoic acid induced 1 gene DOID:9970 obesity ISO RGD:1318304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15459175|PMID:19116176 1308501 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K gene DOID:6000 congestive heart failure ISO RGD:1353112 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1308501 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K gene DOID:630 genetic disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308501 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353112 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1308501 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:7240710 20171011 OMIM 1308501 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:17576681|PMID:23086801|PMID:28492532|PMID:9536098 1308502 Trub1 TruB pseudouridine synthase family member 1 gene DOID:630 genetic disease ISO RGD:1318307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308503 Rbm38 RNA binding motif protein 38 gene DOID:630 genetic disease ISO RGD:1318308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308503 Rbm38 RNA binding motif protein 38 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318308 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34453780 1308503 Rbm38 RNA binding motif protein 38 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318308 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34453780 1308506 Srp14 signal recognition particle 14 gene DOID:2717 Bloom syndrome ISO RGD:1318313 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308506 Srp14 signal recognition particle 14 gene DOID:630 genetic disease ISO RGD:1318313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308506 Srp14 signal recognition particle 14 gene DOID:9256 colorectal cancer ISO RGD:1318313 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318315 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1318315 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:630 genetic disease ISO RGD:1318315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318315 D RGD:11056278|PMID:25961434 20210429 RGD associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2316183|PMID:10939588 20210429 RGD mRNA:increased expression:mammary gland 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1318316 D RGD:126848766|PMID:19703301 20210429 RGD 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:9007098 Pulmonary Atresia ISO RGD:1318315 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 1308507 Arhgap5 Rho GTPase activating protein 5 gene DOID:9009121 lung metastasis ISO RGD:1318316 D RGD:126848767|PMID:20860838 20210429 RGD associated with Mammary Neoplasms, Experimental 1308508 Brix1 biogenesis of ribosomes BRX1 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 1308508 Brix1 biogenesis of ribosomes BRX1 gene DOID:630 genetic disease ISO RGD:1605358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308508 Brix1 biogenesis of ribosomes BRX1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605358 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308509 Hbs1l HBS1-like translational GTPase gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318318 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1308509 Hbs1l HBS1-like translational GTPase gene DOID:12241 beta thalassemia ISO RGD:1318318 D RGD:11353877|PMID:18839276 20160726 RGD DNA:SNP:exon:32C>T (human) 1308509 Hbs1l HBS1-like translational GTPase gene DOID:630 genetic disease ISO RGD:1318318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308510 Mypn myopalladin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:29016939|PMID:31983221 1308510 Mypn myopalladin gene DOID:0050700 cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532 1308510 Mypn myopalladin gene DOID:0060224 atrial fibrillation ISO RGD:1318320 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1308510 Mypn myopalladin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18006477|PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 1308510 Mypn myopalladin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666 1308510 Mypn myopalladin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1318320 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318320 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:7240710 20141022 OMIM 1308510 Mypn myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22 PMID:16199547|PMID:17576681|PMID:18006477|PMID:20801532|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25163546|PMID:25448463|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383716|PMID:26458567|PMID:26498160|PMID:26899768|PMID:27532257|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28427417|PMID:28492532|PMID:28611029|PMID:28798025|PMID:28831623|PMID:29016939|PMID:29247119|PMID:29447731|PMID:29875424|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30531895|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32880476|PMID:33297573|PMID:33552729|PMID:33658040|PMID:34088380|PMID:34184449|PMID:34426522|PMID:34935411|PMID:9536098 1308510 Mypn myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:7240710 20190315 OMIM 1308510 Mypn myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:34088380|PMID:9536098 1308510 Mypn myopalladin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532|PMID:31513939 1308510 Mypn myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572 1308510 Mypn myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572 1308510 Mypn myopalladin gene DOID:2843 long QT syndrome ISO RGD:1318320 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:397 restrictive cardiomyopathy ISO RGD:1318320 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:397 restrictive cardiomyopathy ISS RGD:1551017 D RGD:13592920 20180518 MouseDO OMIM:115210 | OMIM:609578 | OMIM:612422 | OMIM:615248 1308510 Mypn myopalladin gene DOID:6000 congestive heart failure ISO RGD:1318320 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Heart failure PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:630 genetic disease ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:33297573 1308510 Mypn myopalladin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:33297573 1308510 Mypn myopalladin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1318320 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 1308510 Mypn myopalladin gene DOID:9007820 Sudden Death ISO RGD:1318320 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1318322 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:13501 Moebius syndrome ISO RGD:1318322 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:5419 schizophrenia ISO RGD:1318322 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:630 genetic disease ISO RGD:1318322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318322 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318322 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318322 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308511 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 gene DOID:9007661 Dwarfism ISO RGD:1318322 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1318324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:28492532 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:7240710 20190315 OMIM 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 112 PMID:24312468|PMID:25741868 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:630 genetic disease ISO RGD:1318324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318324 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004538 Hearing Loss ISO RGD:1318324 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1308512 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9008681 Deafness ISO RGD:1318324 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deafness 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:7240710 20141015 OMIM 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 2 PMID:24500646|PMID:25741868|PMID:28492532|PMID:3859241 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349472 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:630 genetic disease ISO RGD:1349472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308513 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349472 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308514 Sema3f semaphorin 3F gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1308514 Sema3f semaphorin 3F gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318327 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1308514 Sema3f semaphorin 3F gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1308514 Sema3f semaphorin 3F gene DOID:1921 Klinefelter syndrome ISO RGD:1318327 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1308514 Sema3f semaphorin 3F gene DOID:630 genetic disease ISO RGD:1318327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1308514 Sema3f semaphorin 3F gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318327 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1308514 Sema3f semaphorin 3F gene DOID:9004538 Hearing Loss ISO RGD:1318327 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1308514 Sema3f semaphorin 3F gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 1308514 Sema3f semaphorin 3F gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308515 Folr2 folate receptor beta gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 1308515 Folr2 folate receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:1318329 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308515 Folr2 folate receptor beta gene DOID:0080074 neural tube defect ISO RGD:1318329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11749123 1308515 Folr2 folate receptor beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318329 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30794826 1308515 Folr2 folate receptor beta gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1308515 Folr2 folate receptor beta gene DOID:1059 intellectual disability ISO RGD:1318329 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308515 Folr2 folate receptor beta gene DOID:630 genetic disease ISO RGD:1318329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308515 Folr2 folate receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318331 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1318331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080600 COVID-19 ISO RGD:1318331 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1318331 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:7240710 20190315 OMIM 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 PMID:25741868|PMID:28553959|PMID:32473092 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:2154 nephroblastoma ISO RGD:1318331 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:630 genetic disease ISO RGD:1318331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1318331 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1318331 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1318331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:7240710 20200930 OMIM 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 9 PMID:25741868|PMID:32473092 1308516 Trip13 thyroid hormone receptor interactor 13 gene DOID:9008692 Aneuploidy ISO RGD:1318331 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 1308517 Cep44 centrosomal protein 44 gene DOID:630 genetic disease ISO RGD:1318333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308517 Cep44 centrosomal protein 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318333 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308518 Ngly1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency IMP D RGD:39457703|PMID:32259258 20201013 RGD 1308518 Ngly1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:7240710 20140911 OMIM 1308518 Ngly1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22581936|PMID:24088041|PMID:24651605|PMID:25220016|PMID:25356970|PMID:25741868|PMID:25900930|PMID:26350515|PMID:26633545|PMID:26795593|PMID:27388694|PMID:28330790|PMID:28492532|PMID:29419975|PMID:29550355|PMID:30740912|PMID:31311714|PMID:31497478|PMID:31957011|PMID:31965062|PMID:32123317|PMID:32422350|PMID:32576142|PMID:9536098 1308518 Ngly1 N-glycanase 1 gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1318334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 1308518 Ngly1 N-glycanase 1 gene DOID:1059 intellectual disability ISO RGD:1318334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24651605|PMID:25220016|PMID:28492532 1308518 Ngly1 N-glycanase 1 gene DOID:630 genetic disease ISO RGD:1318334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24651605|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28330790|PMID:28492532|PMID:31311714|PMID:31497478|PMID:31965062 1308518 Ngly1 N-glycanase 1 gene DOID:9000842 Proteostasis Deficiencies IMP D RGD:39457703|PMID:32259258 20201013 RGD 1308518 Ngly1 N-glycanase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318334 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29550355|PMID:31965062 1308518 Ngly1 N-glycanase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318334 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 1308519 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1318336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308519 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1318336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308519 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1308519 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1318338 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:630 genetic disease ISO RGD:1318338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308520 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318338 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308521 Nkx2-3 NK2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1318340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308521 Nkx2-3 NK2 homeobox 3 gene DOID:8577 ulcerative colitis ISO RGD:1318340 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:18438406|PMID:20228799 1308521 Nkx2-3 NK2 homeobox 3 gene DOID:8778 Crohn's disease ISO RGD:1318340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438405|PMID:18438406 1308523 Ccdc158 coiled-coil domain containing 158 gene DOID:630 genetic disease ISO RGD:1602411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308523 Ccdc158 coiled-coil domain containing 158 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1308523 Ccdc158 coiled-coil domain containing 158 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602411 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1308524 Ect2 epithelial cell transforming 2 gene DOID:1062 Fanconi syndrome ISO RGD:1318344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1308524 Ect2 epithelial cell transforming 2 gene DOID:630 genetic disease ISO RGD:1318344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308524 Ect2 epithelial cell transforming 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318344 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308524 Ect2 epithelial cell transforming 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308525 Echdc2 enoyl CoA hydratase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308526 Cd5l Cd5 molecule-like gene DOID:1540 parathyroid carcinoma ISO RGD:1318347 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308526 Cd5l Cd5 molecule-like gene DOID:630 genetic disease ISO RGD:1318347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308526 Cd5l Cd5 molecule-like gene DOID:684 hepatocellular carcinoma ISO RGD:1318347 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308526 Cd5l Cd5 molecule-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308526 Cd5l Cd5 molecule-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318347 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308527 Aff3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:7240710 20210623 OMIM 1308527 Aff3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: KINSSHIP syndrome PMID:25741868|PMID:31388108|PMID:33961779 1308527 Aff3 ALF transcription elongation factor 3 gene DOID:303 substance-related disorder ISO RGD:1318349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1308527 Aff3 ALF transcription elongation factor 3 gene DOID:630 genetic disease ISO RGD:1318349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308527 Aff3 ALF transcription elongation factor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1318349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:10401794|PMID:12242346 20151007 RGD protein:altered expression: : 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:1598888|PMID:10369267 20061220 RGD DNA:missense mutation:cds:p.R345W (human) 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:7240710 20130221 OMIM 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy | ClinVar Annotator: match by term: Malattia leventinese PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318352 D RGD:10401791|PMID:17664227 20151007 RGD 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1068 juvenile glaucoma ISO RGD:1318351 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:11353 bladder diverticulum ISO RGD:1318351 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Diverticulum of bladder PMID:25741868 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1283 enterocele ISO RGD:1318352 D RGD:10401789|PMID:17872905 20151007 RGD 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1432 blindness ISO RGD:1318351 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318351 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208748 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:299 adenocarcinoma ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:305 carcinoma ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3070 high grade glioma ISO RGD:1318351 D RGD:10401656|PMID:19887559 20151006 RGD protein:increased expression:brain: 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3144 cutis laxa ISO RGD:1318351 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318351 D RGD:10401794|PMID:12242346 20151007 RGD protein:altered expression: : 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318352 D RGD:10401788|PMID:17666404 20151007 RGD 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration no_association ISO RGD:1318352 D RGD:10401789|PMID:17872905 20151007 RGD 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:657 adenoma ISO RGD:1318351 D RGD:10401654|PMID:24080855 20151006 RGD protein:decreased expression: : 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318351 D RGD:10401793|PMID:23936443 20151007 RGD protein:decreased expression:liver: 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1318351 D RGD:10401792|PMID:22275171 20151007 RGD protein:increased expression:serum: 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002644 Premature Aging ISO RGD:1318352 D RGD:10401789|PMID:17872905 20151007 RGD 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:1318351 D RGD:8554872 20200818 ClinVar ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation PMID:28492532|PMID:32006683 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1308528 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19115204 1308529 Ttc4 tetratricopeptide repeat domain 4 gene DOID:630 genetic disease ISO RGD:1318353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308530 Scand1 SCAN domain-containing 1 gene DOID:630 genetic disease ISO RGD:1318355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:10286 prostate carcinoma ISO RGD:1318357 D RGD:7488899|PMID:16391854 20131204 RGD protein:decreased tyrosine phosphorylation:prostate gland 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:1059 intellectual disability ISO RGD:1318357 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:11198 DiGeorge syndrome ISO RGD:1318357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16399080 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:11198 DiGeorge syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:11372 megacolon ISO RGD:1318357 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:12583 velocardiofacial syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:12583 velocardiofacial syndrome ISS RGD:1318358 D RGD:13592920 20180518 MouseDO OMIM:192430 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:12849 autistic disorder ISO RGD:1318357 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:1520 colon carcinoma ISO RGD:1318357 D RGD:7488899|PMID:16391854 20131204 RGD 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:1826 epilepsy ISO RGD:1318357 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:2394 ovarian cancer ISO RGD:1318357 D RGD:7488899|PMID:16391854 20131204 RGD 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1318357 D RGD:7488897|PMID:23686806 20131204 RGD protein:increased expression:breast 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:3905 lung carcinoma ISO RGD:1318357 D RGD:7488899|PMID:16391854 20131204 RGD 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:4159 skin cancer ISO RGD:1318357 D RGD:7488899|PMID:16391854 20131204 RGD 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:5419 schizophrenia ISO RGD:1318357 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1318357 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:8552 chronic myeloid leukemia ISO RGD:1318357 D RGD:13674160|PMID:17900686 20180710 RGD protein:increased phosphorylation:blood 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318357 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1308531 Crkl CRK like proto-oncogene, adaptor protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318357 D RGD:7488899|PMID:16391854 20131204 RGD 1308532 Meis3 Meis homeobox 3 gene DOID:630 genetic disease ISO RGD:1318359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0060368 Parkinson's disease 2 ISO RGD:1606527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:25741868|PMID:28492532 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:7240710 20150610 OMIM 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder PMID:21681106|PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28492532|PMID:30346093|PMID:31205050|PMID:31949314|PMID:32688057 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0111940 immunodeficiency 42 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:1059 intellectual disability ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28492532|PMID:32688057 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1606527 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:5812 MHC class II deficiency ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:630 genetic disease ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28490743|PMID:28492532|PMID:32688057 1308533 Gatad2b GATA zinc finger domain containing 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606527 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308534 Rtbdn retbindin gene DOID:0050990 episodic ataxia type 2 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1308534 Rtbdn retbindin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1606213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1308534 Rtbdn retbindin gene DOID:0111254 glutaric acidemia I ISO RGD:1606213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1308534 Rtbdn retbindin gene DOID:3413 alpha-mannosidosis ISO RGD:1606213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1308534 Rtbdn retbindin gene DOID:630 genetic disease ISO RGD:1606213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308534 Rtbdn retbindin gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 1308534 Rtbdn retbindin gene DOID:9005834 Ependymomas ISO RGD:1606213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343524 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1343524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308535 Pygo2 pygopus family PHD finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343524 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308536 Coch cochlin gene DOID:0050439 Usher syndrome ISO RGD:1318365 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 1308536 Coch cochlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10400989|PMID:11332404|PMID:14512963|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:25230692|PMID:28492532|PMID:28733840|PMID:30311386|PMID:9931344 1308536 Coch cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:7240710 20130425 OMIM 1308536 Coch cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 9 PMID:10400989|PMID:11332404|PMID:12928864|PMID:14512963|PMID:16151338|PMID:16261627|PMID:16481359|PMID:18312449|PMID:19161137|PMID:22534022|PMID:24033266|PMID:24662630|PMID:25230692|PMID:25741868|PMID:25780252|PMID:26467025|PMID:28492532|PMID:28733840|PMID:30311386|PMID:8817345|PMID:9806553|PMID:9931344 1308536 Coch cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:7240710 20200129 OMIM 1308536 Coch cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 110 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29449721 1308536 Coch cochlin gene DOID:10003 sensorineural hearing loss ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:16261627|PMID:19461658|PMID:25780252|PMID:28492532|PMID:30311386|PMID:34652575 1308536 Coch cochlin gene DOID:630 genetic disease ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308536 Coch cochlin gene DOID:9004538 Hearing Loss ISO RGD:1318365 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10400989|PMID:11332404|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:28733840|PMID:30311386|PMID:9931344 1308536 Coch cochlin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308536 Coch cochlin gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318365 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 1308536 Coch cochlin gene DOID:9008681 Deafness susceptibility ISO RGD:1318365 D RGD:1600878|PMID:9806553 20070329 RGD deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations 1308538 Rab11fip2 RAB11 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308539 Kif5c kinesin family member 5C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318371 D RGD:12798528|PMID:23006449 20170324 RGD mRNA:increased expression:frontal cortex, cerebellum (mouse) 1308539 Kif5c kinesin family member 5C gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 1308539 Kif5c kinesin family member 5C gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 1308539 Kif5c kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:7240710 20140911 OMIM 1308539 Kif5c kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 PMID:23033978|PMID:23603762|PMID:24088041|PMID:24812067|PMID:25741868|PMID:26633545 1308539 Kif5c kinesin family member 5C gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1318370 D RGD:12859086|PMID:24569455 20170412 RGD protein:decreased expression:cerebellum (human) 1308539 Kif5c kinesin family member 5C gene DOID:10907 microcephaly ISO RGD:1318370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 1308539 Kif5c kinesin family member 5C gene DOID:127 leiomyoma ISO RGD:1318370 D RGD:12859089|PMID:20396563 20170412 RGD mRNA:increased expression:myometrium (human) 1308539 Kif5c kinesin family member 5C gene DOID:5419 schizophrenia ISO RGD:1318370 D RGD:12859088|PMID:24581549 20170412 RGD DNA:snp:enhancer:T>C (rs10929935) (human) 1308539 Kif5c kinesin family member 5C gene DOID:630 genetic disease ISO RGD:1318370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308539 Kif5c kinesin family member 5C gene DOID:9008582 Developmental Disease ISO RGD:1318370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1308540 Utp3 UTP3, small subunit processome component gene DOID:630 genetic disease ISO RGD:1603977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308540 Utp3 UTP3, small subunit processome component gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603977 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:0080600 COVID-19 ISO RGD:1602448 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1602448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:2717 Bloom syndrome ISO RGD:1602448 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:630 genetic disease ISO RGD:1602448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1602448 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:9250 acrocallosal syndrome ISO RGD:1602448 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome 1308541 Ticrr TOPBP1-interacting checkpoint and replication regulator gene DOID:9256 colorectal cancer ISO RGD:1602448 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308542 Sirt1 sirtuin 1 gene DOID:0060180 colitis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19940103|PMID:24548422|PMID:24782617 1308542 Sirt1 sirtuin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1318374 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1308542 Sirt1 sirtuin 1 gene DOID:0060903 thrombosis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25339356 1308542 Sirt1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26026874 1308542 Sirt1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1318374 D RGD:9585746|PMID:22902550 20140923 RGD protein:decreased expression:liver 1308542 Sirt1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1318374 D RGD:9586021|PMID:20033348 20140924 RGD associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue 1308542 Sirt1 sirtuin 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:9585663|PMID:17498258 20140918 RGD 1308542 Sirt1 sirtuin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1318374 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 1308542 Sirt1 sirtuin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318374 D RGD:9585760|PMID:23038275 20140923 RGD 1308542 Sirt1 sirtuin 1 gene DOID:10603 glucose intolerance ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21321189 1308542 Sirt1 sirtuin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1318375 D RGD:2290573|PMID:17581637 20150709 RGD protein:increased expression:forebrain (mouse) 1308542 Sirt1 sirtuin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1318375 D RGD:10047116|PMID:16751189 20150709 RGD 1308542 Sirt1 sirtuin 1 gene DOID:114 heart disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 1308542 Sirt1 sirtuin 1 gene DOID:11476 osteoporosis treatment IDA D RGD:10047129|PMID:22555620 20150710 RGD 1308542 Sirt1 sirtuin 1 gene DOID:11476 osteoporosis treatment IMP D RGD:10053568|PMID:25377437 20150714 RGD 1308542 Sirt1 sirtuin 1 gene DOID:12387 nephrogenic diabetes insipidus ISS RGD:1318375 D RGD:13592920 20180518 MouseDO OMIM:125800 | OMIM:304800 1308542 Sirt1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:10395240|PMID:9949199 20150826 RGD human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) 1308542 Sirt1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9586004|PMID:18538940 20140924 RGD protein:decreased expression:frontal cortex 1308542 Sirt1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318375 D RGD:9585998|PMID:22179316 20140924 RGD 1308542 Sirt1 sirtuin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17581637|PMID:17652729 1308542 Sirt1 sirtuin 1 gene DOID:1826 epilepsy IEP D RGD:9585747|PMID:23644113 20140923 RGD protein:increased expression:brain 1308542 Sirt1 sirtuin 1 gene DOID:1875 impotence treatment IEP D RGD:9495931|PMID:24467772 20140917 RGD associated with Diabetes Mellitus, Type 2 1308542 Sirt1 sirtuin 1 gene DOID:1936 atherosclerosis IEP D RGD:9585743|PMID:21810449 20140923 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta 1308542 Sirt1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 1308542 Sirt1 sirtuin 1 gene DOID:3021 acute kidney failure ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21416250 1308542 Sirt1 sirtuin 1 gene DOID:3021 acute kidney failure severity IEP D RGD:10047111|PMID:21416250 20150709 RGD protein:increased expression:kidney (rat) 1308542 Sirt1 sirtuin 1 gene DOID:3213 demyelinating disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23547115 1308542 Sirt1 sirtuin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318375 D RGD:2290573|PMID:17581637 20150709 RGD protein:increased expression:spinal cord (mouse) 1308542 Sirt1 sirtuin 1 gene DOID:3347 osteosarcoma ISO RGD:1318374 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 1308542 Sirt1 sirtuin 1 gene DOID:3454 brain infarction ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22878646 1308542 Sirt1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318375 D RGD:9585664|PMID:23600725 20140918 RGD 1308542 Sirt1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:9585664|PMID:23600725 20140918 RGD 1308542 Sirt1 sirtuin 1 gene DOID:417 autoimmune disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23993977 1308542 Sirt1 sirtuin 1 gene DOID:418 systemic scleroderma ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25707573 1308542 Sirt1 sirtuin 1 gene DOID:4448 macular degeneration ISO RGD:1318374 D RGD:9585773|PMID:21890195 20140923 RGD mRNA:decreased expression:retina 1308542 Sirt1 sirtuin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19720090 1308542 Sirt1 sirtuin 1 gene DOID:552 pneumonia ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24633890 1308542 Sirt1 sirtuin 1 gene DOID:5679 retinal disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 1308542 Sirt1 sirtuin 1 gene DOID:5844 myocardial infarction IEP D RGD:2316169|PMID:20089851 20140918 RGD protein:altered localization:nucleus 1308542 Sirt1 sirtuin 1 gene DOID:6000 congestive heart failure ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24535859 1308542 Sirt1 sirtuin 1 gene DOID:630 genetic disease ISO RGD:1318374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308542 Sirt1 sirtuin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 1308542 Sirt1 sirtuin 1 gene DOID:9000040 Hypertrophy ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23297412 1308542 Sirt1 sirtuin 1 gene DOID:9000310 Lung Injury ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24633890 1308542 Sirt1 sirtuin 1 gene DOID:9000784 Fibrosis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20651248 1308542 Sirt1 sirtuin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318374 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 1308542 Sirt1 sirtuin 1 gene DOID:9000998 Brain Injuries treatment IEP D RGD:9497541|PMID:17970622 20140917 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26435214 1308542 Sirt1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:9585770|PMID:21554952 20140923 RGD protein:decreased expression:heart left ventricle 1308542 Sirt1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock treatment IMP D RGD:7240568|PMID:22113495 20140917 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 1308542 Sirt1 sirtuin 1 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:9497542|PMID:24557422 20140917 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062352 1308542 Sirt1 sirtuin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:9586020|PMID:17322642 20140924 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 1308542 Sirt1 sirtuin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23547115 1308542 Sirt1 sirtuin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17581637 1308542 Sirt1 sirtuin 1 gene DOID:9002981 Genomic Instability ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 1308542 Sirt1 sirtuin 1 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:13514043|PMID:25281201 20180321 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2293330|PMID:18192848 20140923 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium 1308542 Sirt1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9495934|PMID:19142216 20140917 RGD associated with Hypertension;mRNA, protein:increased expression:heart 1308542 Sirt1 sirtuin 1 gene DOID:9005246 Paralysis ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23547115 1308542 Sirt1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 1308542 Sirt1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9586012|PMID:22179968 20140924 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:9495930|PMID:22324445 20140917 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9006302 Binge Drinking IEP D RGD:9495933|PMID:24416161 20140917 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome IEP D RGD:10053569|PMID:25356430 20150714 RGD protein:decreased expression:hippocampus (rat) 1308542 Sirt1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 1308542 Sirt1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome treatment IDA D RGD:9585758|PMID:21514307 20140923 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1318374 D RGD:9495924|PMID:23224247 20140917 RGD mRNA, protein:decreased expression:carotid artery segment 1308542 Sirt1 sirtuin 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22523472 1308542 Sirt1 sirtuin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20068143|PMID:21321189|PMID:24442997|PMID:25849131|PMID:26026874 1308542 Sirt1 sirtuin 1 gene DOID:9007692 Insulin Resistance treatment IDA D RGD:9585759|PMID:19996381 20140923 RGD associated with Obesity 1308542 Sirt1 sirtuin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21060073 1308542 Sirt1 sirtuin 1 gene DOID:9008691 Liver Injury treatment IEP D RGD:9586016|PMID:25004063 20140924 RGD associated with Sepsis 1308542 Sirt1 sirtuin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 1308542 Sirt1 sirtuin 1 gene DOID:9351 diabetes mellitus ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 1308542 Sirt1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 1308542 Sirt1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment IMP D RGD:9585997|PMID:19549853 20140924 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1318375 D RGD:9585769|PMID:18046409 20140923 RGD associated with Obesity 1308542 Sirt1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21321189|PMID:23834033|PMID:24184811|PMID:24210820|PMID:24442997 1308542 Sirt1 sirtuin 1 gene DOID:9452 fatty liver disease ISO RGD:1318375 D RGD:9585751|PMID:21540183 20140923 RGD associated with Obesity 1308542 Sirt1 sirtuin 1 gene DOID:9669 senile cataract ISO RGD:1318374 D RGD:10045354|PMID:21501079 20150609 RGD 1308542 Sirt1 sirtuin 1 gene DOID:9970 obesity IEP D RGD:9586064|PMID:24135502 20140926 RGD protein:decreased expression:ovary 1308542 Sirt1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1318374 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24184811 1308542 Sirt1 sirtuin 1 gene DOID:9970 obesity treatment IMP D RGD:9585762|PMID:24773342 20140923 RGD 1308543 Pura purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:7240710 20150722 OMIM 1308543 Pura purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PMID:12818205|PMID:19846792|PMID:23950017|PMID:24033266|PMID:25342064|PMID:25439098|PMID:25741868|PMID:25741869|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28600779|PMID:29097605|PMID:29150892|PMID:29619234|PMID:32089526|PMID:32238909|PMID:32337850|PMID:32581362|PMID:32860008|PMID:34008892|PMID:9461080 1308543 Pura purine rich element binding protein A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308543 Pura purine rich element binding protein A gene DOID:1059 intellectual disability ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32581362|PMID:32860008|PMID:34008892 1308543 Pura purine rich element binding protein A gene DOID:1826 epilepsy ISO RGD:1318376 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1308543 Pura purine rich element binding protein A gene DOID:1826 epilepsy ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 1308543 Pura purine rich element binding protein A gene DOID:543 dystonia ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:25741868 1308543 Pura purine rich element binding protein A gene DOID:630 genetic disease ISO RGD:1318376 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12818205|PMID:19846792|PMID:22614836|PMID:25741868|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:29097605|PMID:29150892|PMID:29307761|PMID:9461080 1308543 Pura purine rich element binding protein A gene DOID:9001793 Generalized Epilepsy ISO RGD:1318376 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 1308543 Pura purine rich element binding protein A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318376 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1308543 Pura purine rich element binding protein A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318376 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308543 Pura purine rich element binding protein A gene DOID:9004992 Apnea ISO RGD:1318376 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868 1308543 Pura purine rich element binding protein A gene DOID:9005603 Muscle Hypotonia ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 1308543 Pura purine rich element binding protein A gene DOID:9006534 Nervous System Malformations ISO RGD:1318376 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1308543 Pura purine rich element binding protein A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308543 Pura purine rich element binding protein A gene DOID:9008086 Developmental Disabilities ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 1308547 Crygn crystallin, gamma N gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1308547 Crygn crystallin, gamma N gene DOID:2843 long QT syndrome ISO RGD:1318382 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1308547 Crygn crystallin, gamma N gene DOID:630 genetic disease ISO RGD:1318382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308548 Dhx9 DExH-box helicase 9 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1308548 Dhx9 DExH-box helicase 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308548 Dhx9 DExH-box helicase 9 gene DOID:630 genetic disease ISO RGD:1318384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308548 Dhx9 DExH-box helicase 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318384 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1308548 Dhx9 DExH-box helicase 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318384 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308550 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:1596 depressive disorder susceptibility IEP D RGD:13801196|PMID:22311638 20181105 RGD 1308550 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:630 genetic disease ISO RGD:1318388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308550 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:700 mitochondrial metabolism disease ISO RGD:1318388 D RGD:8554872 20210316 ClinVar ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes PMID:25741868|PMID:33502047 1308550 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:893 Wilson disease ISO RGD:1318388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 1308550 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:7240710 20221214 OMIM 1308550 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 PMID:25741868|PMID:33502047 1308551 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1318390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666238 1308551 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318390 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:26004201|PMID:26752647 1308551 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:3910 lung adenocarcinoma ISO RGD:1318390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1308551 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:630 genetic disease ISO RGD:1318390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308551 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:7240710 20190315 OMIM 1308551 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:25741868|PMID:26004201|PMID:26752647|PMID:28492532 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:16652334|PMID:21160490|PMID:23079554|PMID:23851226|PMID:25741868|PMID:27322623|PMID:28492532|PMID:33084218 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1318392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1318392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11254442 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1318392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15832614|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:18757878|PMID:19168821|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22975760|PMID:23793458|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25796299|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:28492532|PMID:31302377|PMID:32056211|PMID:33084218|PMID:34504271 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:7240710 20180711 OMIM 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:17576681|PMID:18757878|PMID:19168821|PMID:20301707|PMID:20560255|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22328087|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22737209|PMID:22975760|PMID:23079554|PMID:23793458|PMID:23851226|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25767710|PMID:25796299|PMID:26349194|PMID:26392452|PMID:27081509|PMID:27322623|PMID:28492532|PMID:28588848|PMID:28840990|PMID:32056211|PMID:33084218|PMID:34918859|PMID:9536098 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318392 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1308552 Mlc1 modulator of VRAC current 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1318392 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1308552 Mlc1 modulator of VRAC current 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1318392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1308552 Mlc1 modulator of VRAC current 1 gene DOID:1059 intellectual disability ISO RGD:1318392 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308552 Mlc1 modulator of VRAC current 1 gene DOID:630 genetic disease ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15992519|PMID:25741868|PMID:28492532 1308552 Mlc1 modulator of VRAC current 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1318392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1308552 Mlc1 modulator of VRAC current 1 gene DOID:9005369 Hepatomegaly ISO RGD:1318392 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1308552 Mlc1 modulator of VRAC current 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11254442|PMID:12939431|PMID:16199547|PMID:16470554|PMID:24824219|PMID:25741868|PMID:27264811|PMID:28492532 1308553 Kcng4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318394 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1308553 Kcng4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1318394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308555 Lca5 lebercilin LCA5 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17576681|PMID:18334959|PMID:25741868|PMID:28492532|PMID:32865313|PMID:9536098 1308555 Lca5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:7240710 20130221 OMIM 1308555 Lca5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:12642313|PMID:16123401|PMID:16199547|PMID:17546029|PMID:17576681|PMID:18000884|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23661368|PMID:23946133|PMID:24144451|PMID:24265693|PMID:24474277|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:32214227|PMID:32531858|PMID:33776059|PMID:8571951|PMID:9536098 1308555 Lca5 lebercilin LCA5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17546029|PMID:23946133|PMID:24265693|PMID:25741868|PMID:28492532|PMID:32531858|PMID:33776059 1308555 Lca5 lebercilin LCA5 gene DOID:1432 blindness ISO RGD:1318396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17546029 1308555 Lca5 lebercilin LCA5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1318396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:32531858|PMID:8571951|PMID:9536098 1308555 Lca5 lebercilin LCA5 gene DOID:630 genetic disease ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8571951 1308555 Lca5 lebercilin LCA5 gene DOID:8501 fundus dystrophy ISO RGD:1318396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:8571951 1308555 Lca5 lebercilin LCA5 gene DOID:9269 maple syrup urine disease ISO RGD:1318396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 1308556 Sppl2b signal peptide peptidase-like 2B gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1601988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1308556 Sppl2b signal peptide peptidase-like 2B gene DOID:630 genetic disease ISO RGD:1601988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308556 Sppl2b signal peptide peptidase-like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601988 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308557 Ubxn2b UBX domain protein 2B gene DOID:630 genetic disease ISO RGD:2299012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308558 Rap1gds1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:630 genetic disease ISO RGD:1318400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308559 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1308559 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606163 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1308559 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1308559 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:630 genetic disease ISO RGD:1606163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308559 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1308560 Nkiras1 NFKB inhibitor interacting Ras-like 1 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:1318403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 PMID:23812780|PMID:25741868|PMID:28492532 1308560 Nkiras1 NFKB inhibitor interacting Ras-like 1 gene DOID:630 genetic disease ISO RGD:1318403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308561 Zbtb26 zinc finger and BTB domain containing 26 gene DOID:630 genetic disease ISO RGD:1318405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:0050073 invasive aspergillosis disease_progression ISO RGD:1318407 D RGD:7483617|PMID:17379855 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:0050486 exanthem ISO RGD:1318406 D RGD:7483602|PMID:18384452 20131203 RGD mRNA, protein:increased expression:skin 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1318406 D RGD:7483601|PMID:22048239 20131203 RGD mRNA, protein:increased expression:skin 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1318407 D RGD:7483593|PMID:15287366 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:1205 allergic disease ISO RGD:1318406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:12306 vitiligo ISO RGD:1318406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:1564 fungal infectious disease ISO RGD:1318406 D RGD:7483612|PMID:22287435 20131203 RGD associated with Rhinosinusitis 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:1612 breast cancer disease_progression ISO RGD:1318406 D RGD:7483628|PMID:21624121 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:1936 atherosclerosis ISO RGD:1318407 D RGD:7483610|PMID:24114205 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:224 transient cerebral ischemia IEP D RGD:7488896|PMID:19428685 20131204 RGD mRNA:increased expression:brain 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:2841 asthma ISO RGD:1318407 D RGD:8549811|PMID:19917684 20140408 RGD protein:increased expression:lung, dendritic cell (mouse) 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis treatment IEP D RGD:7483632|PMID:23192593 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1318406 D RGD:7483632|PMID:23192593 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1318406 D RGD:7483587|PMID:21742595 20131202 RGD mRNA:increased expression:skin 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:552 pneumonia ISO RGD:1318406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1318406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1318406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453841|PMID:20453842|PMID:23143596 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:8577 ulcerative colitis ISO RGD:1318406 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318406 D RGD:7483581|PMID:10843722 20131202 RGD mRNA:increased expression:skin 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318407 D RGD:7483598|PMID:19662682 20131203 RGD 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:9001472 Nasal Polyps ISO RGD:1318406 D RGD:7483612|PMID:22287435 20131203 RGD associated with Rhinosinusitis 1308562 Ccr6 C-C motif chemokine receptor 6 gene DOID:9003036 Oral Lichen Planus ISO RGD:1318406 D RGD:7483584|PMID:16454813 20131202 RGD 1308565 Polr2d RNA polymerase II subunit D gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1318411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1308565 Polr2d RNA polymerase II subunit D gene DOID:630 genetic disease ISO RGD:1318411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308567 Wdr5b WD repeat domain 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1308567 Wdr5b WD repeat domain 5B gene DOID:630 genetic disease ISO RGD:1318414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308567 Wdr5b WD repeat domain 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318414 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1308567 Wdr5b WD repeat domain 5B gene DOID:9270 alkaptonuria ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1308568 Spock2 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 gene DOID:0111330 combined saposin deficiency ISO RGD:1318416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 1308568 Spock2 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1318416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308569 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1308569 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1318418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1308569 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1308569 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318418 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 1308569 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:630 genetic disease ISO RGD:1318418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308570 Atad1 ATPase family, AAA domain containing 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1308570 Atad1 ATPase family, AAA domain containing 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318420 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1308570 Atad1 ATPase family, AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:7240710 20190315 OMIM 1308570 Atad1 ATPase family, AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 4 PMID:25741868|PMID:28180185|PMID:28492532|PMID:29390050|PMID:29659736|PMID:33134516 1308570 Atad1 ATPase family, AAA domain containing 1 gene DOID:630 genetic disease ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308574 Flrt2 fibronectin leucine rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1318426 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308574 Flrt2 fibronectin leucine rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1318426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308575 Cldn8 claudin 8 gene DOID:1790 malignant mesothelioma ISO RGD:1318427 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 1308575 Cldn8 claudin 8 gene DOID:630 genetic disease ISO RGD:1318427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308576 Ddhd1 DDHD domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318429 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 1308576 Ddhd1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:7240710 20130221 OMIM 1308576 Ddhd1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:15786464|PMID:17576681|PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:27999540|PMID:28492532|PMID:28818478|PMID:9536098 1308576 Ddhd1 DDHD domain containing 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:28492532 1308576 Ddhd1 DDHD domain containing 1 gene DOID:630 genetic disease ISO RGD:1318429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308576 Ddhd1 DDHD domain containing 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1318429 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spasticity 1308577 Ankrd13a ankyrin repeat domain 13a gene DOID:630 genetic disease ISO RGD:1318431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:7240710 20190315 OMIM 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 PMID:11519896|PMID:15966048|PMID:17897280|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:31564459|PMID:33333793|PMID:33532864 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318432 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:17897280|PMID:25741868|PMID:28272532|PMID:28805828 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:1184 nephrotic syndrome ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11519896|PMID:15966048|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259|PMID:31564459|PMID:33333793 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1318432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1308578 Osgep O-sialoglycoprotein endopeptidase gene DOID:630 genetic disease ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175 1308579 Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 gene DOID:0060356 Vici syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1308579 Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1348609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308579 Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1348609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308579 Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1348609 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1308579 Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:1348609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1308581 Dipk1a divergent protein kinase domain 1A gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 1308581 Dipk1a divergent protein kinase domain 1A gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 1308581 Dipk1a divergent protein kinase domain 1A gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 1308581 Dipk1a divergent protein kinase domain 1A gene DOID:12449 aplastic anemia ISO RGD:1603475 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 1308581 Dipk1a divergent protein kinase domain 1A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 1308581 Dipk1a divergent protein kinase domain 1A gene DOID:630 genetic disease ISO RGD:1603475 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308582 Shmt2 serine hydroxymethyltransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 1308582 Shmt2 serine hydroxymethyltransferase 2 gene DOID:630 genetic disease ISO RGD:1318437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308582 Shmt2 serine hydroxymethyltransferase 2 gene DOID:6846 familial melanoma ISO RGD:1318437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1308582 Shmt2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:7240710 20210120 OMIM 1308582 Shmt2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities PMID:25741868|PMID:33015733 1308582 Shmt2 serine hydroxymethyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318437 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33015733 1308584 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:7240710 20190315 OMIM 1308584 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F PMID:25558065|PMID:25741868|PMID:27392077 1308584 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1318440 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308584 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:630 genetic disease ISO RGD:1318440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308584 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:9008086 Developmental Disabilities ISO RGD:1318440 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:27392077 1308584 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318440 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308585 Zfp511 zinc finger protein 511 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318442 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1308585 Zfp511 zinc finger protein 511 gene DOID:630 genetic disease ISO RGD:1318442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308586 Oasl 2'-5'-oligoadenylate synthetase-like gene DOID:630 genetic disease ISO RGD:1318443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308586 Oasl 2'-5'-oligoadenylate synthetase-like gene DOID:9001488 Human Influenza ISO RGD:1318443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1308587 Slc37a1 solute carrier family 37 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1308587 Slc37a1 solute carrier family 37 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1308587 Slc37a1 solute carrier family 37 member 1 gene DOID:630 genetic disease ISO RGD:1318445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308587 Slc37a1 solute carrier family 37 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318445 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1308587 Slc37a1 solute carrier family 37 member 1 gene DOID:9263 homocystinuria ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1308587 Slc37a1 solute carrier family 37 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308588 Loxl4 lysyl oxidase-like 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1318447 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308588 Loxl4 lysyl oxidase-like 4 gene DOID:11054 urinary bladder cancer ISO RGD:1318447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 1308588 Loxl4 lysyl oxidase-like 4 gene DOID:630 genetic disease ISO RGD:1318447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:0080685 aortic dissection ISO RGD:1318449 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1318449 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:1318449 D RGD:5024944|PMID:14641797 20110302 RGD 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:5024942|PMID:20860503 20110302 RGD DNA:SNP: :rs3771166 (human) 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:5024945|PMID:19910030 20110302 RGD 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:5024946|PMID:18774397 20110302 RGD DNA:SNPs: :multiple (human) 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:5024947|PMID:18382474 20110302 RGD DNA:SNPs: :multiple (human) 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318450 D RGD:5024948|PMID:11972614 20110302 RGD 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1318449 D RGD:4889841|PMID:15308504 20110302 RGD protein:increased expression:lung 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:417 autoimmune disease ISO RGD:1318450 D RGD:5024943|PMID:15470078 20110302 RGD 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:630 genetic disease ISO RGD:1318449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318449 D RGD:11538094|PMID:26893476 20190708 RGD mRNA:decreased expression:liver 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318450 D RGD:11538094|PMID:26893476 20190708 RGD 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318450|RGD:1318449 D RGD:4889574|PMID:19265174 20110302 RGD Lung Injury 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1318449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1308589 Il18r1 interleukin 18 receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2311529|PMID:19269041 20110302 RGD mRNA:increased expression:lymph node 1308590 Mlx MAX dimerization protein MLX gene DOID:0070311 oligoasthenoteratozoospermia ISS RGD:1619244 D RGD:13592920 20230330 MouseDO 1308590 Mlx MAX dimerization protein MLX gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:1602902 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:31042289 1308590 Mlx MAX dimerization protein MLX gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1602902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 1308590 Mlx MAX dimerization protein MLX gene DOID:630 genetic disease ISO RGD:1602902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308591 Tasp1 taspase 1 gene DOID:630 genetic disease ISO RGD:1318453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308591 Tasp1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:7240710 20201118 OMIM 1308591 Tasp1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868|PMID:29633245|PMID:31209944 1308591 Tasp1 taspase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1318453 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:25741868|PMID:29633245|PMID:31209944 1308591 Tasp1 taspase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318453 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31209944 1308593 Efcab2 EF-hand calcium binding domain 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1308593 Efcab2 EF-hand calcium binding domain 2 gene DOID:0080600 COVID-19 ISO RGD:1604261 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1308593 Efcab2 EF-hand calcium binding domain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604261 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308593 Efcab2 EF-hand calcium binding domain 2 gene DOID:630 genetic disease ISO RGD:1604261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308593 Efcab2 EF-hand calcium binding domain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604261 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308595 Susd2 sushi domain containing 2 gene DOID:1826 epilepsy ISO RGD:1318458 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308595 Susd2 sushi domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318458 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308595 Susd2 sushi domain containing 2 gene DOID:630 genetic disease ISO RGD:1318458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308596 Kif23 kinesin family member 23 gene DOID:0080600 COVID-19 ISO RGD:1318460 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308596 Kif23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:7240710 20220406 OMIM 1308596 Kif23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III PMID:13867810|PMID:14886400|PMID:23570799|PMID:25741868|PMID:28492532|PMID:33159567 1308596 Kif23 kinesin family member 23 gene DOID:10907 microcephaly ISO RGD:1318460 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:26539891 1308596 Kif23 kinesin family member 23 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1318460 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism 1308596 Kif23 kinesin family member 23 gene DOID:2717 Bloom syndrome ISO RGD:1318460 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308596 Kif23 kinesin family member 23 gene DOID:630 genetic disease ISO RGD:1318460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308596 Kif23 kinesin family member 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1318460 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308596 Kif23 kinesin family member 23 gene DOID:9256 colorectal cancer ISO RGD:1318460 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:20923864|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26467025|PMID:27604842|PMID:28492532|PMID:30152102|PMID:30155846|PMID:30877234 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:1624151|PMID:11404820 20070502 RGD OMIM:171300;DNA:deletion:725delC 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:7240710 20130221 OMIM 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:19927285|PMID:30013182 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:1624151|PMID:11404820 20070502 RGD PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency PMID:17634472|PMID:22972948|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:27604842|PMID:28492532|PMID:30155846|PMID:30877234 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:7240710 20130425 OMIM 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:11404820|PMID:11897817|PMID:12362046|PMID:12364472|PMID:12618761|PMID:14500403|PMID:14715873|PMID:14985401|PMID:15328326|PMID:15383933|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17200167|PMID:17298551|PMID:17376234|PMID:17487275|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19399650|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19694205|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20540712|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21348866|PMID:21565294|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22270996|PMID:22517554|PMID:22703879|PMID:22835832|PMID:22995991|PMID:23072324|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24466223|PMID:24509376|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24939699|PMID:25047027|PMID:25326637|PMID:25333069|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25972245|PMID:26092435|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26719882|PMID:27171833|PMID:27539324|PMID:27573198|PMID:27604842|PMID:28324028|PMID:28374168|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30152102|PMID:30201732|PMID:31492822|PMID:31666924|PMID:32741965|PMID:32963463|PMID:33300499|PMID:33362715|PMID:34439168|PMID:34906457|PMID:9509062 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:1612 breast cancer ISO RGD:1318463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:14985401|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17639058|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19802898|PMID:21979946|PMID:22703879|PMID:22995991|PMID:23666964|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:28492532 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:2394 ovarian cancer ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23780556|PMID:25741868|PMID:28492532 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:4450 renal cell carcinoma ISO RGD:1318463 D RGD:6907134|PMID:21771581 20121030 RGD 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:4450 renal cell carcinoma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:630 genetic disease ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14685938|PMID:15987702|PMID:17634472|PMID:28492532 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:6457 Cowden syndrome ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26269449|PMID:26729832|PMID:27604842|PMID:28229225|PMID:28492532|PMID:30155846|PMID:30877234|PMID:34309460 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:6741 bilateral breast cancer ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002162 Carotid Body Tumor ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carotid body tumor PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002265 Kidney Neoplasms ISO RGD:1318463 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Renal neoplasm PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30050099 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:17634472|PMID:22972948|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32124427|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:7240710 20210324 OMIM 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 PMID:11897817|PMID:14500403|PMID:16314641|PMID:16912137|PMID:17200167|PMID:17634472|PMID:17652212|PMID:17848412|PMID:18382370|PMID:18551016|PMID:18678321|PMID:18728283|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19454582|PMID:19576851|PMID:20208144|PMID:20592014|PMID:20614293|PMID:22703879|PMID:22835832|PMID:22972948|PMID:23083876|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24509376|PMID:24728327|PMID:24939699|PMID:25637381|PMID:25695889|PMID:25741868|PMID:26259135|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27539324|PMID:27604842|PMID:28374168|PMID:28492532|PMID:30050099|PMID:32124427|PMID:34052969|PMID:34906457 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34255389 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007167 Carney Triad ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:7240710 20131030 OMIM 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22430264|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25827221|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:7240710 20130221 OMIM 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24859990|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:31046099|PMID:31104306|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 1308598 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9352 type 2 diabetes mellitus ISS RGD:1318464 D RGD:13592920 20220804 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603205 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:630 genetic disease ISO RGD:1603205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603205 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308599 Lrrc47 leucine rich repeat containing 47 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0050777 Joubert syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:0081097 Rafiq syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:1826 epilepsy ISO RGD:1602652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:3652 Leigh disease ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:630 genetic disease ISO RGD:1602652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308600 Dipk1b divergent protein kinase domain 1B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308601 Ark2n arkadia N-terminal like PKA signaling regulator 2N gene DOID:0060356 Vici syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1308601 Ark2n arkadia N-terminal like PKA signaling regulator 2N gene DOID:1059 intellectual disability ISO RGD:1318467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308601 Ark2n arkadia N-terminal like PKA signaling regulator 2N gene DOID:630 genetic disease ISO RGD:1318467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308601 Ark2n arkadia N-terminal like PKA signaling regulator 2N gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1318467 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1308602 Lrp11 LDL receptor related protein 11 gene DOID:630 genetic disease ISO RGD:1318469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308605 Elovl2 ELOVL fatty acid elongase 2 gene DOID:12336 male infertility ISO RGD:1318475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21106902 1308605 Elovl2 ELOVL fatty acid elongase 2 gene DOID:630 genetic disease ISO RGD:1318475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308606 Klk14 kallikrein related-peptidase 14 gene DOID:12336 male infertility ISO RGD:1318477 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility 1308606 Klk14 kallikrein related-peptidase 14 gene DOID:630 genetic disease ISO RGD:1318477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308607 Trim31 tripartite motif-containing 31 gene DOID:11372 megacolon ISO RGD:1318479 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308607 Trim31 tripartite motif-containing 31 gene DOID:2772 irritant dermatitis ISO RGD:1318479 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 1308607 Trim31 tripartite motif-containing 31 gene DOID:630 genetic disease ISO RGD:1318479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308608 Alkbh4 alkB homolog 4, lysine demethylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603303 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308608 Alkbh4 alkB homolog 4, lysine demethylase gene DOID:630 genetic disease ISO RGD:1603303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308609 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1318482 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1308609 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:7240710 20190315 OMIM 1308609 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 2 PMID:21455487|PMID:25741868|PMID:27380734|PMID:28067412|PMID:28492532|PMID:30408610 1308609 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0111590 Cohen syndrome ISO RGD:1318482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1308609 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31235738 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:7240710 20130221 OMIM 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia PMID:10391221|PMID:10391222|PMID:10391223|PMID:10874303|PMID:10978358|PMID:12065289|PMID:12435857|PMID:14994241|PMID:17132746|PMID:17463047|PMID:18414213|PMID:19643445|PMID:24355766|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33649974|PMID:33816400|PMID:9399900 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:13382 megaloblastic anemia ISO RGD:1318484 D RGD:1599325|PMID:10391221 20070130 RGD 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:630 genetic disease ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:784 chronic kidney disease IEP D RGD:7327184|PMID:21149507 20130913 RGD mRNA:decreased expression:liver, heart (rat) 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318484 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:9008681 Deafness ISO RGD:1318484 D RGD:1599325|PMID:10391221 20070130 RGD 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318484 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:9351 diabetes mellitus ISO RGD:1318484 D RGD:1599325|PMID:10391221 20070130 RGD 1308611 Slc19a2 solute carrier family 19 member 2 gene DOID:9351 diabetes mellitus ISO RGD:1318484 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 1308612 Mrgbp MRG domain binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1308612 Mrgbp MRG domain binding protein gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1308612 Mrgbp MRG domain binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1308612 Mrgbp MRG domain binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318486 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1308612 Mrgbp MRG domain binding protein gene DOID:1826 epilepsy ISO RGD:1318486 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1308612 Mrgbp MRG domain binding protein gene DOID:630 genetic disease ISO RGD:1318486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1318489 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080001 bone disease ISO RGD:1318489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 PMID:20554659|PMID:28492532 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318489 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28087462 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:7240710 20130221 OMIM 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18414213|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:20207735|PMID:20301659|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24033266|PMID:24122892|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24748525|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:26891797|PMID:26995068|PMID:27186704|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29056246|PMID:29286531|PMID:29655203|PMID:29720203|PMID:29852413|PMID:30043187|PMID:31302938|PMID:31564432|PMID:31737911|PMID:31965297|PMID:32685344|PMID:33822359|PMID:33868381|PMID:9536098 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:1059 intellectual disability ISO RGD:1318489 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:11832 visual epilepsy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187|PMID:9536098 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:12270 coloboma ISO RGD:1318489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:14264 benign neonatal seizures ISO RGD:1318489 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:16199547|PMID:16491085|PMID:20554659|PMID:21733724|PMID:25741868|PMID:28492532 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:9536098 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:630 genetic disease ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10971205|PMID:16199547|PMID:16491085|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:19142996|PMID:20207735|PMID:20301659|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22529283|PMID:23022070|PMID:23350806|PMID:23430810|PMID:24122892|PMID:24664088|PMID:24748525|PMID:24848745|PMID:24942048|PMID:25741868|PMID:26026794|PMID:26101365|PMID:26232297|PMID:26467025|PMID:26995068|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28492532|PMID:29286531|PMID:30043187|PMID:31564432|PMID:31737911|PMID:33868381|PMID:9536098 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1318489 D RGD:152995286|PMID:30901224 20220614 RGD mRNA:altered expression:liver tumor (human) 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1318489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:9000918 Disease Progression ISO RGD:1318489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:9002704 Leukoencephalopathies ISO RGD:1318489 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:28492532 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318489 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16491085|PMID:25741868|PMID:27186704|PMID:28492532 1308614 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308615 Slc35a3 solute carrier family 35 member A3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318491 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 1308615 Slc35a3 solute carrier family 35 member A3 gene DOID:630 genetic disease ISO RGD:1318491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24031089|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532 1308615 Slc35a3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:7240710 20140911 OMIM 1308615 Slc35a3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24031089|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532|PMID:28777481|PMID:33416188|PMID:9536098 1308615 Slc35a3 solute carrier family 35 member A3 gene DOID:9269 maple syrup urine disease ISO RGD:1318491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:7240710 20140911 OMIM 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:16199547|PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30359774|PMID:30560016|PMID:30564332|PMID:30755392|PMID:30818181|PMID:32402703|PMID:35773235|PMID:9536098 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603692 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603692 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:1059 intellectual disability ISO RGD:1603692 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:11383 cryptorchidism ISO RGD:1603692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28492532|PMID:30564332|PMID:30755392|PMID:35773235 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:11832 visual epilepsy ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603692 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:630 genetic disease ISO RGD:1603692 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30564332|PMID:9536098 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:9000983 Encephalocele ISO RGD:1603692 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:23932106|PMID:25741868|PMID:28492532|PMID:31680349 1308616 Szt2 SZT2 subunit of KICSTOR complex gene DOID:9970 obesity ISO RGD:1603692 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 1308617 Zfp287 zinc finger protein 287 gene DOID:10283 prostate cancer ISO RGD:1318494 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308617 Zfp287 zinc finger protein 287 gene DOID:630 genetic disease ISO RGD:1318494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:0080600 COVID-19 ISO RGD:1318496 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1318496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:630 genetic disease ISO RGD:1318496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:7148 rheumatoid arthritis ISO RGD:1318496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:8778 Crohn's disease ISO RGD:1318496 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:21102463|PMID:36038634 1308618 Tagap T-cell activation RhoGTPase activating protein gene DOID:8893 psoriasis ISO RGD:1318496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 1308619 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:10825 essential hypertension ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 1308619 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:437 myasthenia gravis ISO RGD:1318498 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 1308619 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318498 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308619 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:630 genetic disease ISO RGD:1318498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308620 Ocstamp osteoclast stimulatory transmembrane protein gene DOID:2234 focal epilepsy ISO RGD:1352743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1308620 Ocstamp osteoclast stimulatory transmembrane protein gene DOID:630 genetic disease ISO RGD:1352743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308621 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1318501 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308621 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1318501 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1308621 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1318501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1308621 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:630 genetic disease ISO RGD:1318501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308622 Pdzd8 PDZ domain containing 8 gene DOID:630 genetic disease ISO RGD:1318503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308622 Pdzd8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:7240710 20221116 OMIM 1308622 Pdzd8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies PMID:35227461 1308623 Zfp668 zinc finger protein 668 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605939 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1308623 Zfp668 zinc finger protein 668 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605939 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 1308623 Zfp668 zinc finger protein 668 gene DOID:10907 microcephaly ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:26633546|PMID:34313816 1308623 Zfp668 zinc finger protein 668 gene DOID:2661 myoepithelioma ISO RGD:1605939 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1308623 Zfp668 zinc finger protein 668 gene DOID:630 genetic disease ISO RGD:1605939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308623 Zfp668 zinc finger protein 668 gene DOID:9001276 Failure to Thrive ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:26633546|PMID:34313816 1308623 Zfp668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:7240710 20230505 OMIM 1308623 Zfp668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies PMID:26633546|PMID:34313816 1308623 Zfp668 zinc finger protein 668 gene DOID:9005834 Ependymomas ISO RGD:1605939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 1308624 Neu4 neuraminidase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308624 Neu4 neuraminidase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308624 Neu4 neuraminidase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318506 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1308624 Neu4 neuraminidase 4 gene DOID:1059 intellectual disability ISO RGD:1318506 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308624 Neu4 neuraminidase 4 gene DOID:630 genetic disease ISO RGD:1318506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308624 Neu4 neuraminidase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1308625 Gtf2a1l general transcription factor 2A subunit 1 like gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602495 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 1308625 Gtf2a1l general transcription factor 2A subunit 1 like gene DOID:630 genetic disease ISO RGD:1602495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308626 Slain1 SLAIN motif family, member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603921 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308626 Slain1 SLAIN motif family, member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 1308626 Slain1 SLAIN motif family, member 1 gene DOID:630 genetic disease ISO RGD:1603921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308627 Sf3a2 splicing factor 3A subunit 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1308627 Sf3a2 splicing factor 3A subunit 2 gene DOID:630 genetic disease ISO RGD:1318510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308627 Sf3a2 splicing factor 3A subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318510 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308628 Parp12 poly (ADP-ribose) polymerase family, member 12 gene DOID:0080690 RASopathy ISO RGD:1318511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1308628 Parp12 poly (ADP-ribose) polymerase family, member 12 gene DOID:4448 macular degeneration ISO RGD:1318511 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 1308628 Parp12 poly (ADP-ribose) polymerase family, member 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318511 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308628 Parp12 poly (ADP-ribose) polymerase family, member 12 gene DOID:630 genetic disease ISO RGD:1318511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308628 Parp12 poly (ADP-ribose) polymerase family, member 12 gene DOID:9001488 Human Influenza ISO RGD:1318511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1308629 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:1909 melanoma ISO RGD:1318513 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 1308629 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:630 genetic disease ISO RGD:1318513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308629 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1318513 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 1308629 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318513 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1308631 Maml1 mastermind-like transcriptional coactivator 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1318517 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1308631 Maml1 mastermind-like transcriptional coactivator 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1318517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308631 Maml1 mastermind-like transcriptional coactivator 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1318517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308631 Maml1 mastermind-like transcriptional coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1318517 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308631 Maml1 mastermind-like transcriptional coactivator 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318518 D RGD:13524575|PMID:26067594 20180423 RGD protein:increased expression:spinal chord 1308631 Maml1 mastermind-like transcriptional coactivator 1 gene DOID:630 genetic disease ISO RGD:1318517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308632 Zbbx zinc finger, B-box domain containing gene DOID:630 genetic disease ISO RGD:1602864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308633 Stard3nl STARD3 N-terminal like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318520 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308633 Stard3nl STARD3 N-terminal like gene DOID:630 genetic disease ISO RGD:1318520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308634 Amn amnion associated transmembrane protein gene DOID:0050731 vitamin B12 deficiency ISO RGD:1318522 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Vitamin B12 deficiency PMID:25741868 1308634 Amn amnion associated transmembrane protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1308634 Amn amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 1308634 Amn amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia susceptibility ISO RGD:1318522 D RGD:1599101|PMID:12590260 20070116 RGD 1308634 Amn amnion associated transmembrane protein gene DOID:3021 acute kidney failure ISO RGD:1318522 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20514524 1308634 Amn amnion associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1318522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308634 Amn amnion associated transmembrane protein gene DOID:9000197 Edema ISO RGD:1318522 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17698245 1308634 Amn amnion associated transmembrane protein gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1318522 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 1308634 Amn amnion associated transmembrane protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1318522 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16938409|PMID:17698245 1308634 Amn amnion associated transmembrane protein gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1308634 Amn amnion associated transmembrane protein gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 1308634 Amn amnion associated transmembrane protein gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1318522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:18181028|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:30691194|PMID:6741523|PMID:9536098 1308634 Amn amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:11071839|PMID:17114957 20160615 RGD DNA:mutation:splice site: 1308634 Amn amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:7240710 20200610 OMIM 1308634 Amn amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:22078000|PMID:22929189|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098 1308634 Amn amnion associated transmembrane protein gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1318522 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17698245 1308635 Dnlz DNL-type zinc finger gene DOID:0050777 Joubert syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1308635 Dnlz DNL-type zinc finger gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:0080324 tuberous sclerosis 1 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:0081097 Rafiq syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1308635 Dnlz DNL-type zinc finger gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1308635 Dnlz DNL-type zinc finger gene DOID:3652 Leigh disease ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1308635 Dnlz DNL-type zinc finger gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1308636 Rnf187 ring finger protein 187 gene DOID:1540 parathyroid carcinoma ISO RGD:1606704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308636 Rnf187 ring finger protein 187 gene DOID:630 genetic disease ISO RGD:1606704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308636 Rnf187 ring finger protein 187 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606704 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308637 Ccdc90b coiled-coil domain containing 90B gene DOID:1059 intellectual disability ISO RGD:1605354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308637 Ccdc90b coiled-coil domain containing 90B gene DOID:630 genetic disease ISO RGD:1605354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308638 Phf7 PHD finger protein 7 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1318527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1308638 Phf7 PHD finger protein 7 gene DOID:10003 sensorineural hearing loss ISO RGD:1318527 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 1308638 Phf7 PHD finger protein 7 gene DOID:630 genetic disease ISO RGD:1318527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308639 Dkk2 dickkopf WNT signaling pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:1344026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308642 Naca nascent polypeptide associated complex subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:1318533 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1308642 Naca nascent polypeptide associated complex subunit alpha gene DOID:630 genetic disease ISO RGD:1318533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308643 Zfp266 zinc finger protein 266 gene DOID:12849 autistic disorder ISO RGD:1354483 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308643 Zfp266 zinc finger protein 266 gene DOID:630 genetic disease ISO RGD:1354483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308644 Map10 microtubule-associated protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1607026 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308644 Map10 microtubule-associated protein 10 gene DOID:630 genetic disease ISO RGD:1607026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308644 Map10 microtubule-associated protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607026 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308645 Slfn2 schlafen family member 2 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:2291763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1308645 Slfn2 schlafen family member 2 gene DOID:630 genetic disease ISO RGD:2291763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308647 Abtb3 ankyrin repeat and BTB domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1318539 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1308647 Abtb3 ankyrin repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1318539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308647 Abtb3 ankyrin repeat and BTB domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1318539 D RGD:11554173 20221206 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308649 Elavl1 ELAV like RNA binding protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1318543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1308649 Elavl1 ELAV like RNA binding protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1318543 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1308649 Elavl1 ELAV like RNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1318543 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308649 Elavl1 ELAV like RNA binding protein 1 gene DOID:289 endometriosis ISO RGD:1318543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20889954 1308649 Elavl1 ELAV like RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1318543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308650 Sema5a semaphorin 5A gene DOID:1059 intellectual disability ISO RGD:1318544 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308650 Sema5a semaphorin 5A gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318544 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 1308650 Sema5a semaphorin 5A gene DOID:12849 autistic disorder ISO RGD:1318544 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17028446 1308650 Sema5a semaphorin 5A gene DOID:630 genetic disease ISO RGD:1318544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308651 Luc7l2 LUC7-like 2 pre-mRNA splicing factor gene DOID:0080690 RASopathy ISO RGD:1318546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1308651 Luc7l2 LUC7-like 2 pre-mRNA splicing factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318546 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308651 Luc7l2 LUC7-like 2 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1318546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308653 Stk11 serine/threonine kinase 11 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:28135145|PMID:28492532|PMID:30287823|PMID:31159747|PMID:32068069|PMID:33471991 1308653 Stk11 serine/threonine kinase 11 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318548 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868 1308653 Stk11 serine/threonine kinase 11 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991 1308653 Stk11 serine/threonine kinase 11 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1318548 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:26080840|PMID:26295973|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:10534 stomach cancer ISO RGD:1318548 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:30287823|PMID:32980694|PMID:36988593 1308653 Stk11 serine/threonine kinase 11 gene DOID:10763 hypertension ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 1308653 Stk11 serine/threonine kinase 11 gene DOID:1319 brain cancer ISO RGD:1318548 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Brain cancer PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:1324 lung cancer ISO RGD:1318548 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1308653 Stk11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318548 D RGD:2291944|PMID:18245476 20080404 RGD 1308653 Stk11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:2291944|PMID:18245476 20080404 RGD 1308653 Stk11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISS RGD:1318549 D RGD:13592920 20180518 MouseDO OMIM:608089 1308653 Stk11 serine/threonine kinase 11 gene DOID:14566 disease of cellular proliferation ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10208439|PMID:10408777|PMID:10429654|PMID:10676634|PMID:11668633|PMID:12865922|PMID:15188174|PMID:15863673|PMID:16287113|PMID:16582077|PMID:16707622|PMID:17026623|PMID:17676035|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20435009|PMID:21191700|PMID:23399955|PMID:23555315|PMID:23639312|PMID:23718779|PMID:24857785|PMID:24998845|PMID:25157968|PMID:25226294|PMID:25343854|PMID:25741868|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27081308|PMID:28152038|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30528796|PMID:31159747|PMID:32566746|PMID:9731485 1308653 Stk11 serine/threonine kinase 11 gene DOID:1520 colon carcinoma ISO RGD:1318548 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14623934|PMID:15121768|PMID:25186949|PMID:25741868|PMID:26467025|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17576681|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:9536098 1308653 Stk11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823 1308653 Stk11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:30426508|PMID:30833958|PMID:33471991 1308653 Stk11 serine/threonine kinase 11 gene DOID:1749 squamous cell carcinoma ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 1308653 Stk11 serine/threonine kinase 11 gene DOID:1749 squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1308653 Stk11 serine/threonine kinase 11 gene DOID:1793 pancreatic cancer ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 1308653 Stk11 serine/threonine kinase 11 gene DOID:1793 pancreatic cancer ISO RGD:1318548 D RGD:7240710 20130425 OMIM 1308653 Stk11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 1308653 Stk11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10208439|PMID:27467201|PMID:32647375 1308653 Stk11 serine/threonine kinase 11 gene DOID:219 colon cancer ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:2394 ovarian cancer ISO RGD:1318548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10429654|PMID:10676634|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26164066|PMID:26319365|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27153395|PMID:27311873|PMID:27978560|PMID:28492532|PMID:28977883|PMID:30093976|PMID:30287823|PMID:31775759|PMID:32566746|PMID:32720237|PMID:33471991|PMID:34011629 1308653 Stk11 serine/threonine kinase 11 gene DOID:2871 endometrial carcinoma ISO RGD:1318548 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:299 adenocarcinoma ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 1308653 Stk11 serine/threonine kinase 11 gene DOID:2998 testicular cancer ISO RGD:1318548 D RGD:8554872 20200317 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:9605748|PMID:9887330 1308653 Stk11 serine/threonine kinase 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1318548 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:3459 breast carcinoma ISO RGD:1318548 D RGD:2291945|PMID:16785781 20080404 RGD protein:decreased expression:breast 1308653 Stk11 serine/threonine kinase 11 gene DOID:3459 breast carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16287113|PMID:17676035|PMID:24033266|PMID:25186627|PMID:25452441|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:28492532|PMID:28873162|PMID:29785153|PMID:30092773|PMID:30287823|PMID:30426508|PMID:31159747|PMID:33309985|PMID:34849607 1308653 Stk11 serine/threonine kinase 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1318548 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26887594 1308653 Stk11 serine/threonine kinase 11 gene DOID:3701 cervical mucinous adenocarcinoma disease_progression ISO RGD:1318548 D RGD:2291947|PMID:12533684 20080404 RGD DNA:mutations 1308653 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26887594 1308653 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:1600691|PMID:14511394 20070322 RGD 1308653 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:7240710 20130221 OMIM 1308653 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10208439|PMID:10217080|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11103790|PMID:11297520|PMID:11389158|PMID:11430832|PMID:11668633|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:20082862|PMID:20223037|PMID:20307669|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:21411391|PMID:21816872|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24304607|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24949325|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27550049|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27721366|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28231849|PMID:28303455|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31515776|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32573125|PMID:32658311|PMID:32720237|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:837816|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767 1308653 Stk11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:19892943|PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318548 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:25157968 1308653 Stk11 serine/threonine kinase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1318548 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24793789 1308653 Stk11 serine/threonine kinase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10408777|PMID:12865922|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17026623|PMID:17676035|PMID:19892943|PMID:20393878|PMID:20435009|PMID:23399955|PMID:23718779|PMID:25157968|PMID:25226294|PMID:25741868|PMID:26056085|PMID:26467025|PMID:27081308|PMID:27993330|PMID:28152038|PMID:28492532|PMID:30528796|PMID:31159747 1308653 Stk11 serine/threonine kinase 11 gene DOID:4001 ovarian carcinoma susceptibility ISO RGD:1318548 D RGD:2298556|PMID:10429654 20080710 RGD DNA:loss of heterozygosity, missense mutation:p.P281L 1308653 Stk11 serine/threonine kinase 11 gene DOID:4606 bile duct cancer ISO RGD:1318548 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:4905 pancreatic carcinoma ISO RGD:1318548 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10362809|PMID:11430832|PMID:15188174|PMID:15800014|PMID:16287113|PMID:19340305|PMID:20393878|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24033266|PMID:24307375|PMID:24652667|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26056085|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:29748005|PMID:30287823|PMID:30374176|PMID:30982232|PMID:31159747|PMID:32068069|PMID:32566746|PMID:33471991 1308653 Stk11 serine/threonine kinase 11 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31775759 1308653 Stk11 serine/threonine kinase 11 gene DOID:5557 testicular germ cell cancer ISO RGD:1318548 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 1308653 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:24033266|PMID:24307375|PMID:24728327|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28135145|PMID:28492532|PMID:28577310|PMID:28873162|PMID:28977883|PMID:30287823|PMID:30982232|PMID:32566746 1308653 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991 1308653 Stk11 serine/threonine kinase 11 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18311138 1308653 Stk11 serine/threonine kinase 11 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intestinal polyposis PMID:25741868|PMID:28492532|PMID:30287823 1308653 Stk11 serine/threonine kinase 11 gene DOID:630 genetic disease ISO RGD:1318548 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10441497|PMID:12552571|PMID:12865922|PMID:15121768|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17404884|PMID:19727776|PMID:23415580|PMID:25741868|PMID:28492532|PMID:9809980 1308653 Stk11 serine/threonine kinase 11 gene DOID:687 hepatoblastoma ISO RGD:1318548 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:7998 hyperthyroidism IEP D RGD:10059691|PMID:18669938 20190506 RGD mRNA,protein:increased expression:muscle: 1308653 Stk11 serine/threonine kinase 11 gene DOID:8634 prostate carcinoma in situ ISO RGD:1318549 D RGD:2291943|PMID:18381428 20080404 RGD 1308653 Stk11 serine/threonine kinase 11 gene DOID:8923 skin melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 1308653 Stk11 serine/threonine kinase 11 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318548 D RGD:2291948|PMID:12114407 20080404 RGD associated with Breast Neoplasms;protein:decreased expression 1308653 Stk11 serine/threonine kinase 11 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1318548 D RGD:7240710 20210303 OMIM 1308653 Stk11 serine/threonine kinase 11 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:10201537|PMID:10208439|PMID:11668633|PMID:15188174|PMID:16287113|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27467201|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28726808|PMID:28821472|PMID:28873162|PMID:29458332|PMID:30287823|PMID:32647375 1308653 Stk11 serine/threonine kinase 11 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:10408777|PMID:12865922|PMID:16287113|PMID:16582077|PMID:17026623|PMID:20435009|PMID:21189378|PMID:23399955|PMID:23718779|PMID:25226294|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:7240710 20130731 OMIM 1308653 Stk11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 1308653 Stk11 serine/threonine kinase 11 gene DOID:9003936 Cardiomegaly ISO RGD:1318549 D RGD:1601391|PMID:17098823 20080404 RGD protein:decreased expression:heart 1308653 Stk11 serine/threonine kinase 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 1308653 Stk11 serine/threonine kinase 11 gene DOID:9005172 Lung Neoplasms ISO RGD:1318548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 1308653 Stk11 serine/threonine kinase 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318548 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17676035|PMID:17711506|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28821472|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30669267|PMID:30982232|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31592449|PMID:31712642|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348 1308653 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34849607|PMID:35467778|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 1308653 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 1308653 Stk11 serine/threonine kinase 11 gene DOID:9007502 Brain Neoplasms ISO RGD:1318548 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm PMID:25741868|PMID:28492532 1308653 Stk11 serine/threonine kinase 11 gene DOID:9007692 Insulin Resistance IEP D RGD:1601389|PMID:16352671 20070418 RGD associated with obesity;protein:decreased expression:gastrocnemius 1308653 Stk11 serine/threonine kinase 11 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1308653 Stk11 serine/threonine kinase 11 gene DOID:9970 obesity IEP D RGD:1601389|PMID:16352671 20080407 RGD protein:decreased expression:gastrocnemius 1308654 Ttc3 tetratricopeptide repeat domain 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1308654 Ttc3 tetratricopeptide repeat domain 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318550 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1308654 Ttc3 tetratricopeptide repeat domain 3 gene DOID:1826 epilepsy ISO RGD:1318550 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308654 Ttc3 tetratricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1318550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308654 Ttc3 tetratricopeptide repeat domain 3 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1318550 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 1308655 Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:11612 polycystic ovary syndrome ISO RGD:1318552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1308655 Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318552 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308655 Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1318552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308657 Thoc1 THO complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:1318555 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308657 Thoc1 THO complex subunit 1 gene DOID:630 genetic disease ISO RGD:1318555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308657 Thoc1 THO complex subunit 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:7240710 20230505 OMIM 1308657 Thoc1 THO complex subunit 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 86 PMID:32776944 1308657 Thoc1 THO complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318555 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308658 Pla2g4b phospholipase A2 group IVB gene DOID:2717 Bloom syndrome ISO RGD:1318557 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308658 Pla2g4b phospholipase A2 group IVB gene DOID:630 genetic disease ISO RGD:1318557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308658 Pla2g4b phospholipase A2 group IVB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318557 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308658 Pla2g4b phospholipase A2 group IVB gene DOID:9256 colorectal cancer ISO RGD:1318557 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0050633 ocular albinism ISO RGD:1318559 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISS RGD:1553020 D RGD:13592920 20180518 MouseDO OMIM:203300 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1318559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISS RGD:1553020 D RGD:13592920 20180518 MouseDO OMIM:608233 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1318559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:2223 platelet storage pool deficiency ISS RGD:1553020 D RGD:13592920 20180518 MouseDO OMIM:185050 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1318559 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:630 genetic disease ISO RGD:1318559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318559 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:7240710 20190315 OMIM 1308659 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 PMID:17576681|PMID:25741868|PMID:26744459|PMID:28492532|PMID:9536098 1308660 Gldc glycine decarboxylase gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318561 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1308660 Gldc glycine decarboxylase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318561 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067|PMID:28492532 1308660 Gldc glycine decarboxylase gene DOID:0080074 neural tube defect ISO RGD:1623050 D RGD:12904662|PMID:25736695 20170517 RGD 1308660 Gldc glycine decarboxylase gene DOID:0080600 COVID-19 ISO RGD:1318561 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308660 Gldc glycine decarboxylase gene DOID:0090056 dystonia 12 ISO RGD:1318561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868|PMID:27799067|PMID:28492532 1308660 Gldc glycine decarboxylase gene DOID:10534 stomach cancer ISO RGD:1318561 D RGD:12904663|PMID:26722042 20170517 RGD mRNA:decreased expression:stomach: 1308660 Gldc glycine decarboxylase gene DOID:10908 hydrocephalus ISO RGD:1623050 D RGD:12904662|PMID:25736695 20170517 RGD 1308660 Gldc glycine decarboxylase gene DOID:630 genetic disease ISO RGD:1318561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601880|PMID:16802295|PMID:17576681|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27799067|PMID:28244183|PMID:28492532|PMID:29205322|PMID:29988937|PMID:32421718|PMID:32743799|PMID:33524012|PMID:9536098 1308660 Gldc glycine decarboxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318561 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308660 Gldc glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:11062733|PMID:15851735 20170517 RGD DNA:mutation:cds: c.2607C>A(human) 1308660 Gldc glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16404748|PMID:16450403|PMID:17361008 1308660 Gldc glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:12904646|PMID:17361008 20170517 RGD DNA:deletions: : 1308660 Gldc glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:7240710 20130221 OMIM 1308660 Gldc glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10798358|PMID:10873393|PMID:11286506|PMID:11592811|PMID:12126939|PMID:12402263|PMID:15192636|PMID:15236413|PMID:15272469|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:15864413|PMID:16199547|PMID:1634607|PMID:16404748|PMID:16450403|PMID:16601880|PMID:16802295|PMID:17074608|PMID:17361008|PMID:17576681|PMID:18581728|PMID:1996985|PMID:20301531|PMID:20691948|PMID:20933183|PMID:21411353|PMID:22171071|PMID:22206881|PMID:22532538|PMID:22633639|PMID:23349517|PMID:24033266|PMID:24123366|PMID:24407464|PMID:25231368|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26539891|PMID:26749113|PMID:26947380|PMID:26969502|PMID:27362813|PMID:27362913|PMID:273629130|PMID:27535533|PMID:27617160|PMID:27799067|PMID:27884173|PMID:27896094|PMID:28116331|PMID:28244183|PMID:28302194|PMID:28416785|PMID:28468868|PMID:28492532|PMID:28737873|PMID:29046206|PMID:29153744|PMID:29205322|PMID:29232014|PMID:29239742|PMID:29988937|PMID:30609409|PMID:31028937|PMID:31319225|PMID:31785789|PMID:32421718|PMID:32593896|PMID:32743799|PMID:33502061|PMID:33524012|PMID:33977025|PMID:34513771|PMID:445864|PMID:660|PMID:9536098 1308660 Gldc glycine decarboxylase gene DOID:9970 obesity ISO RGD:1318561 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Obesity PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532 1308662 Arhgap45 Rho GTPase activating protein 45 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1606818 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1308662 Arhgap45 Rho GTPase activating protein 45 gene DOID:10591 pre-eclampsia ISO RGD:1606818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26095815 1308662 Arhgap45 Rho GTPase activating protein 45 gene DOID:14566 disease of cellular proliferation ISO RGD:1606818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19096014 1308662 Arhgap45 Rho GTPase activating protein 45 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1606818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1308662 Arhgap45 Rho GTPase activating protein 45 gene DOID:5339 cyclic hematopoiesis ISO RGD:1606818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1308662 Arhgap45 Rho GTPase activating protein 45 gene DOID:630 genetic disease ISO RGD:1606818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308664 Cdk2ap1 cyclin-dependent kinase 2 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308665 Nprl3 NPR3-like, GATOR1 complex subunit gene DOID:1059 intellectual disability ISO RGD:1606330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532 1308665 Nprl3 NPR3-like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1606330 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:32086284 1308665 Nprl3 NPR3-like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1606330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308665 Nprl3 NPR3-like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1606330 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1308665 Nprl3 NPR3-like, GATOR1 complex subunit gene DOID:9006565 Familial Focal Epilepsy, with Variable Foci 3 ISO RGD:1606330 D RGD:7240710 20190315 OMIM 1308665 Nprl3 NPR3-like, GATOR1 complex subunit gene DOID:9006565 Familial Focal Epilepsy, with Variable Foci 3 ISO RGD:1606330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26285051|PMID:26505888|PMID:26786403|PMID:27173016|PMID:28492532|PMID:28726809|PMID:30093711|PMID:31594065|PMID:31639411|PMID:32086284|PMID:35136953|PMID:9536098 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:1247 blood coagulation disease ISO RGD:1318570 D RGD:8554872 20170404 ClinVar ClinVar Annotator: match by term: Protein Z deficiency PMID:15626740 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:1247 blood coagulation disease severity ISO RGD:1318571 D RGD:1580102|PMID:10829076 19990101 RGD 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:13241 Behcet's disease ISO RGD:1318570 D RGD:1580692|PMID:14507116 19990101 RGD 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:1318570 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:2222 factor X deficiency ISO RGD:1318570 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:2316 brain ischemia ISO RGD:1318570 D RGD:1358564|PMID:14671240 19990101 RGD 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:630 genetic disease ISO RGD:1318570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:9003121 Thromboembolism ISO RGD:1318570 D RGD:1580693|PMID:12970515 19990101 RGD 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:9003121 Thromboembolism ISO RGD:1318570 D RGD:1580720|PMID:12297123 20110706 RGD protein:decreased expression:plasma 1308666 Proz protein Z, vitamin K-dependent plasma glycoprotein gene DOID:9007096 Stroke ISO RGD:1318570 D RGD:1580691|PMID:15879328 19990101 RGD 1308667 Fbln1 fibulin 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318572 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1308667 Fbln1 fibulin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318572 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1308667 Fbln1 fibulin 1 gene DOID:1059 intellectual disability ISO RGD:1318572 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308667 Fbln1 fibulin 1 gene DOID:289 endometriosis ISO RGD:1318572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1308667 Fbln1 fibulin 1 gene DOID:630 genetic disease ISO RGD:1318572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308667 Fbln1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:7240710 20130221 OMIM 1308667 Fbln1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES PMID:25741868|PMID:28492532 1308667 Fbln1 fibulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 1308667 Fbln1 fibulin 1 gene DOID:9004662 Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects ISO RGD:1318572 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects PMID:24084572 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:7240710 20190315 OMIM 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 64 PMID:25741868|PMID:28837161 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:1686 glaucoma treatment ISO RGD:1318574 D RGD:8655601|PMID:19422885 20140519 RGD 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318574 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:4990 essential tremor ISO RGD:1318574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19182806 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1318574 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:630 genetic disease ISO RGD:1318574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308668 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318574 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308669 Foxp1 forkhead box P1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 1308669 Foxp1 forkhead box P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572417 1308669 Foxp1 forkhead box P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1308669 Foxp1 forkhead box P1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:31474318 1308669 Foxp1 forkhead box P1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318576 D RGD:11560525|PMID:22759905 20161109 RGD protein:altered expression:neocortex (human) 1308669 Foxp1 forkhead box P1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1318576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28492532 1308669 Foxp1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:7240710 20130221 OMIM 1308669 Foxp1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features PMID:17405132|PMID:17576681|PMID:20848658|PMID:20950788|PMID:24214399|PMID:24498627|PMID:25131622|PMID:25326635|PMID:25363768|PMID:25575603|PMID:25741868|PMID:25767709|PMID:26633542|PMID:26647308|PMID:27657687|PMID:27824329|PMID:28492532|PMID:28653555|PMID:28708303|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:29142287|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:32860008|PMID:33427368|PMID:34109629|PMID:9536098 1308669 Foxp1 forkhead box P1 gene DOID:1059 intellectual disability ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17576681|PMID:25741868|PMID:26633542|PMID:26647308|PMID:28492532|PMID:28714951|PMID:28741757|PMID:31618753|PMID:9536098 1308669 Foxp1 forkhead box P1 gene DOID:12306 vitiligo ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 1308669 Foxp1 forkhead box P1 gene DOID:1255 trichostrongyloidiasis IEP D RGD:11561920|PMID:21698235 20161111 RGD mRNA:increased expression:duodenum (rat) 1308669 Foxp1 forkhead box P1 gene DOID:12849 autistic disorder ISO RGD:1318576 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 1308669 Foxp1 forkhead box P1 gene DOID:12849 autistic disorder ISO RGD:1318576 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1308669 Foxp1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318576 D RGD:11560524|PMID:16405510 20161109 RGD mRNA:decreased expression:caudate nucleus (human) 1308669 Foxp1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318577 D RGD:11560524|PMID:16405510 20161109 RGD mRNA:decreased expression:striatum (mouse) 1308669 Foxp1 forkhead box P1 gene DOID:1682 congenital heart disease ISO RGD:1318576 D RGD:11071913|PMID:23766104 20161109 RGD DNA:missense mutation, deletion:cds, exons:p.P568S (human) 1308669 Foxp1 forkhead box P1 gene DOID:1793 pancreatic cancer ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 1308669 Foxp1 forkhead box P1 gene DOID:1826 epilepsy ISO RGD:1318576 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1308669 Foxp1 forkhead box P1 gene DOID:1923 disorder of sexual development ISO RGD:1318576 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1308669 Foxp1 forkhead box P1 gene DOID:255 hemangioma ISO RGD:1318576 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: Glabellar hemangioma PMID:25741868 1308669 Foxp1 forkhead box P1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318576 D RGD:153350086|PMID:22491060 20220906 RGD mRNA:decreased expression:lung (human) 1308669 Foxp1 forkhead box P1 gene DOID:3910 lung adenocarcinoma IEP D RGD:11561933|PMID:16023287 20161111 RGD mRNA:decreased expression:lung (rat) 1308669 Foxp1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:11535321|PMID:26383589 20161109 RGD DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human) 1308669 Foxp1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 1308669 Foxp1 forkhead box P1 gene DOID:540 strabismus ISO RGD:1318576 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 1308669 Foxp1 forkhead box P1 gene DOID:5419 schizophrenia ISO RGD:1318576 D RGD:11353286|PMID:26460480 20161110 RGD DNA:snp:intron:g.71205600C>T (rsrs7372960) (human) 1308669 Foxp1 forkhead box P1 gene DOID:6000 congestive heart failure ISO RGD:1318576 D RGD:1582564|PMID:16952980 20061113 RGD 1308669 Foxp1 forkhead box P1 gene DOID:630 genetic disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19352412|PMID:20848658|PMID:20950788|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26647308|PMID:27657687|PMID:28492532|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:34109629|PMID:9536098 1308669 Foxp1 forkhead box P1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1308669 Foxp1 forkhead box P1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:9587823|PMID:25156538 20161111 RGD 1308669 Foxp1 forkhead box P1 gene DOID:8283 peritonitis ISO RGD:1318576 D RGD:11561898|PMID:18799727 20161110 RGD human gene in a mouse model 1308669 Foxp1 forkhead box P1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 1308669 Foxp1 forkhead box P1 gene DOID:9000998 Brain Injuries treatment IDA D RGD:11561903|PMID:26842647 20161110 RGD 1308669 Foxp1 forkhead box P1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318576 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1308669 Foxp1 forkhead box P1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318576 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308669 Foxp1 forkhead box P1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 1308669 Foxp1 forkhead box P1 gene DOID:9008237 Hemimegalencephaly ISO RGD:1318576 D RGD:11560525|PMID:22759905 20161109 RGD protein:altered expression:neocortex (human) 1308669 Foxp1 forkhead box P1 gene DOID:9008582 Developmental Disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:30564305 1308669 Foxp1 forkhead box P1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:25741868|PMID:28492532 1308669 Foxp1 forkhead box P1 gene DOID:9206 Barrett's esophagus ISO RGD:1318576 D RGD:11560527|PMID:25447851 20161109 RGD DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) 1308669 Foxp1 forkhead box P1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1318576 D RGD:11561899|PMID:18344372 20161110 RGD mRNA:decreased expression:interatrial septum (human) 1308670 Fkbp8 FKBP prolyl isomerase 8 gene DOID:0080016 spina bifida ISS RGD:1318579 D RGD:13592920 20220113 MouseDO 1308670 Fkbp8 FKBP prolyl isomerase 8 gene DOID:11836 clubfoot ISS RGD:1318579 D RGD:13592920 20180518 MouseDO OMIM:119800 1308670 Fkbp8 FKBP prolyl isomerase 8 gene DOID:630 genetic disease ISO RGD:1318578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308670 Fkbp8 FKBP prolyl isomerase 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318578 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1308670 Fkbp8 FKBP prolyl isomerase 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1318578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:1318580 D RGD:11075096|PMID:18774170 20160829 RGD DNA:polymorphism: :66A>G(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1318580 D RGD:11531140|PMID:15159311 20160829 RGD DNA:polymorphism: :66A>G(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060668 anencephaly susceptibility ISO RGD:1318580 D RGD:11098877|PMID:26045171 20170712 RGD DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida ISO RGD:1318580 D RGD:1302512|PMID:12375236 20111007 RGD DNA:polymorphism: :66A>G(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:1318580 D RGD:5508199|PMID:12590188 20111007 RGD DNA:polymorphism: :66A>G(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type ISO RGD:1318580 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type ISO RGD:1318580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:2860337|PMID:30041674|PMID:31063268|PMID:6700644|PMID:9501215|PMID:9536098 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type susceptibility ISO RGD:1318580 D RGD:7240710 20230505 OMIM 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:114 heart disease ISO RGD:1318580 D RGD:1581051|PMID:15612980 19990101 RGD 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:12336 male infertility ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14250 Down syndrome ISO RGD:1318580 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Down syndrome, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1318580 D RGD:5508183|PMID:21070756 20111006 RGD DNA:polymorphism: :1049A>G (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1681 heart septal defect ISO RGD:1318580 D RGD:7244247|PMID:22179537 20130529 RGD DNA:SNP:intron:rs326119(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer ISO RGD:1318580 D RGD:2317118|PMID:18843018 20100609 RGD DNA:polymorphism: :66A>G (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1318580 D RGD:2325772|PMID:18515090 20100609 RGD DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:3565 meningioma susceptibility ISO RGD:1318580 D RGD:5508186|PMID:18483342 20111006 RGD DNA:SNP: :66A>G, (rs1801394) (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:630 genetic disease ISO RGD:1318580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12555939|PMID:15714522|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:655 inherited metabolic disorder ISO RGD:1318580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:20120036|PMID:22887477|PMID:25227144|PMID:25741868|PMID:25978498|PMID:28492532|PMID:9501215 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:657 adenoma ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1318580 D RGD:14696707|PMID:19035314 20190716 RGD DNA:SNP: :66A>G(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1318580 D RGD:5508217|PMID:21947961 20111011 RGD DNA:polymorphism: :66A>G (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:863 nervous system disease ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1318580 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1318580 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:1318580 D RGD:7240710 20230505 OMIM 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1318580 D RGD:6893652|PMID:18774994 20130603 RGD Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006281 Temporomandibular Joint Disorders susceptibility ISO RGD:1318580 D RGD:5490535|PMID:21615938 20110916 RGD DNA:polymorphism:cds:p.I22M (rs1801394)(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16985020|PMID:17389618 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1318580 D RGD:11075096|PMID:18774170 20160829 RGD DNA:polymorphism: :66A>G(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318580 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9263 homocystinuria ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12555939|PMID:15714522 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9263 homocystinuria ISO RGD:1318580 D RGD:5508189|PMID:15714522 20111006 RGD DNA:polymorphisms,mutations: : 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9263 homocystinuria ISO RGD:1318580 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria PMID:10484769|PMID:15714522|PMID:24033266|PMID:25741868|PMID:28492532 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:1318580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16575899|PMID:17369066 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9538 multiple myeloma susceptibility ISO RGD:1318580 D RGD:11075095|PMID:17655928 20160829 RGD DNA:polymorphism: :66G>A(human) 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318580 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:17136115 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:11531133|PMID:17136115 20160829 RGD DNA:haplotype:cds: 1308671 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:11531135|PMID:23940529 20160829 RGD DNA:SNP: :rs3776455(human) 1308673 Papola poly (A) polymerase alpha gene DOID:630 genetic disease ISO RGD:1318583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:0050722 PHGDH deficiency ISO RGD:1347893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1347893 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1318588 D RGD:4889108|PMID:18180323 20101124 RGD mRNA:altered expression:cerebellum, hippocampus (human) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:10763 hypertension IEP D RGD:4761326|PMID:19228890 20101117 RGD mRNA:decreased expression:ovary (rat) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:10763 hypertension susceptibility ISO RGD:1347893 D RGD:1626438|PMID:12054649 20180314 RGD DNA:polymorphism:exon 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:1625114|PMID:14764821 20070522 RGD DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:11446 sciatic neuropathy IEP D RGD:632873|PMID:12648755 20101206 RGD mRNA:increased expression:fourth lumbar dorsal root ganglion (rat) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:11612 polycystic ovary syndrome IEP D RGD:4145934|PMID:19698287 20101222 RGD protein:increased expression:ovary (rat) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:4888511|PMID:11739466 20101119 RGD protein:increased activity:ovary follicle, theca cell (human) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1347893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:12700 hyperprolactinemia IEP D RGD:4889596|PMID:2149342 20101207 RGD mRNA:increased expression:ovary (rat) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:1459 hypothyroidism IEP D RGD:4889527|PMID:17244746 20101203 RGD mRNA:increased expression:corpus luteum (rat) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:1924 hypogonadism IEP D RGD:4833436|PMID:17880366 20101118 RGD mRNA:decreased expression:testis (rat) 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1347893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:630 genetic disease ISO RGD:1347893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17826523 1308676 Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4889107|PMID:18481435 20101124 RGD mRNA:decreased expression:testis, Leydig cell (rat) 1308677 Hykk hydroxylysine kinase gene DOID:2717 Bloom syndrome ISO RGD:1606741 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308677 Hykk hydroxylysine kinase gene DOID:630 genetic disease ISO RGD:1606741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308677 Hykk hydroxylysine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308677 Hykk hydroxylysine kinase gene DOID:9256 colorectal cancer ISO RGD:1606741 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308678 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1318591 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1308678 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1308678 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:7240710 20210922 OMIM 1308678 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 57 PMID:25741868|PMID:34347949|PMID:35476664 1308678 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:14228 oligospermia ISO RGD:1318591 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868 1308678 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:630 genetic disease ISO RGD:1318591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308679 Ssh3 slingshot protein phosphatase 3 gene DOID:1059 intellectual disability ISO RGD:1318592 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308679 Ssh3 slingshot protein phosphatase 3 gene DOID:630 genetic disease ISO RGD:1318592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308679 Ssh3 slingshot protein phosphatase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1308679 Ssh3 slingshot protein phosphatase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1308681 Rpl11 ribosomal protein L11 gene DOID:0060058 lymphoma susceptibility ISO RGD:1318595 D RGD:11535971|PMID:26489471 20160926 RGD 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:11535122|PMID:19191325 20160926 RGD DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human) 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:11535130|PMID:20378560 20160926 RGD DNA:deletions:exons:g.58_59delCT, g.460delA (human) 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:11535132|PMID:19773262 20160926 RGD DNA:deletions, snp:exons, introns:multiple (human) 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:11535967|PMID:19061985 20160926 RGD DNA:mutations:multiple (human) 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:11535969|PMID:25946618 20160926 RGD DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human) 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:7240710 20130731 OMIM 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 PMID:16199547|PMID:19061985|PMID:19773262|PMID:23718193|PMID:25741868|PMID:28492532|PMID:30503522 1308681 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318595 D RGD:11535971|PMID:26489471 20160926 RGD 1308681 Rpl11 ribosomal protein L11 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:20960466|PMID:22689679|PMID:23718193|PMID:25741868|PMID:26136524|PMID:26185635|PMID:28492532|PMID:30503522|PMID:9536098 1308681 Rpl11 ribosomal protein L11 gene DOID:2355 anemia ISO RGD:1318594 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 1308681 Rpl11 ribosomal protein L11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318594 D RGD:11535972|PMID:23377281 20160926 RGD DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human) 1308681 Rpl11 ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1318594 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308681 Rpl11 ribosomal protein L11 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318594 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1308681 Rpl11 ribosomal protein L11 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:18616530|PMID:19187973|PMID:21917145|PMID:24033266 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:26969326|PMID:29654653|PMID:34416374 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11850618|PMID:16134132|PMID:17877751|PMID:18414213|PMID:19187973|PMID:20373850|PMID:22105175|PMID:24033266|PMID:24416283|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30303587|PMID:31854501|PMID:32747562 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:7240710 20140730 OMIM 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:11850618|PMID:16134132|PMID:16199547|PMID:17576681|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21250555|PMID:21252500|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24875298|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29654653|PMID:30303587|PMID:31028865|PMID:31541171|PMID:31854501|PMID:32747562|PMID:33724713|PMID:34416374|PMID:9536098 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:7240710 20140730 OMIM 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 PMID:11850618|PMID:15354000|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17576681|PMID:18616530|PMID:19180119|PMID:19187973|PMID:21250555|PMID:21252500|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24827932|PMID:25388789|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501645|PMID:30303587|PMID:31028865|PMID:31541171|PMID:33168709|PMID:33524517|PMID:33724713|PMID:34523024|PMID:9536098 1308682 Tmc1 transmembrane channel-like 1 gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:25741868|PMID:26011067|PMID:28492532 1308682 Tmc1 transmembrane channel-like 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1318596 D RGD:1599440|PMID:11850618 20070205 RGD DFNA36, OMIM:606705, DFNB7, OMIM:600974 1308682 Tmc1 transmembrane channel-like 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1318596 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 1308682 Tmc1 transmembrane channel-like 1 gene DOID:630 genetic disease ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 1308682 Tmc1 transmembrane channel-like 1 gene DOID:9004538 Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16134132|PMID:16287143|PMID:23767834|PMID:25741868|PMID:28492532|PMID:28501645|PMID:30311386|PMID:33524517 1308682 Tmc1 transmembrane channel-like 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:17576681|PMID:21252500|PMID:23208854|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1308682 Tmc1 transmembrane channel-like 1 gene DOID:9008681 Deafness ISO RGD:1318596 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1308683 Mnt MAX network transcriptional repressor gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISS RGD:1318598 D RGD:13592920 20180518 MouseDO OMIM:247200 1308683 Mnt MAX network transcriptional repressor gene DOID:630 genetic disease ISO RGD:1318597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308683 Mnt MAX network transcriptional repressor gene DOID:674 cleft palate ISO RGD:1318597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 1308683 Mnt MAX network transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318597 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308683 Mnt MAX network transcriptional repressor gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1318597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 1308683 Mnt MAX network transcriptional repressor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 1308684 Ccdc102a coiled-coil domain containing 102A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308684 Ccdc102a coiled-coil domain containing 102A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308684 Ccdc102a coiled-coil domain containing 102A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308684 Ccdc102a coiled-coil domain containing 102A gene DOID:630 genetic disease ISO RGD:1605307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308685 Ddx23 DEAD-box helicase 23 gene DOID:1059 intellectual disability ISO RGD:1318600 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308685 Ddx23 DEAD-box helicase 23 gene DOID:630 genetic disease ISO RGD:1318600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308685 Ddx23 DEAD-box helicase 23 gene DOID:9001276 Failure to Thrive ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:34050707 1308685 Ddx23 DEAD-box helicase 23 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrauterine growth retardation PMID:25741868|PMID:34050707 1308685 Ddx23 DEAD-box helicase 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318600 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: DDX23-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34050707 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1318602 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:0080600 COVID-19 ISO RGD:1318602 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1318602 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1318602 D RGD:151347635|PMID:26460798 20220131 RGD protein:decreased expression:venous blood, lung, regulatory T cell (human) 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1318602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318602 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308686 Ikzf2 IKAROS family zinc finger 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318602 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 1308687 Ptp4a3 protein tyrosine phosphatase 4A3 gene DOID:630 genetic disease ISO RGD:1318604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308687 Ptp4a3 protein tyrosine phosphatase 4A3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1318604 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23555575 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:0080600 COVID-19 ISO RGD:1318606 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:0110562 autosomal dominant nonsyndromic deafness 33 ISO RGD:1318606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 33 PMID:25741868|PMID:30311386|PMID:35278131 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:2222 factor X deficiency ISO RGD:1318606 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:630 genetic disease ISO RGD:1318606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:7240710 20220615 OMIM 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 PMID:25741868|PMID:30311386|PMID:35278131 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318606 D RGD:7240710 20220427 OMIM 1308688 Atp11a ATPase phospholipid transporting 11A gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1318606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:34403372 1308689 Enpp4 ectonucleotide pyrophosphatase/phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1318608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308690 Klk11 kallikrein related-peptidase 11 gene DOID:630 genetic disease ISO RGD:1318610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308691 Galk2 galactokinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1318611 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308691 Galk2 galactokinase 2 gene DOID:630 genetic disease ISO RGD:1318611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308691 Galk2 galactokinase 2 gene DOID:9256 colorectal cancer ISO RGD:1318611 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308692 Nfatc3 nuclear factor of activated T-cells 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1308692 Nfatc3 nuclear factor of activated T-cells 3 gene DOID:10126 keratoconus ISO RGD:1318613 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 1308692 Nfatc3 nuclear factor of activated T-cells 3 gene DOID:630 genetic disease ISO RGD:1318613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308692 Nfatc3 nuclear factor of activated T-cells 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1615176 D RGD:1579956|PMID:9568714 19990101 RGD 1308692 Nfatc3 nuclear factor of activated T-cells 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1615176 D RGD:1579956|PMID:9568714 19990101 RGD 1308693 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1318614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1308693 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:1059 intellectual disability ISO RGD:1318614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308693 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:3070 high grade glioma ISO RGD:1318614 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1308693 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:630 genetic disease ISO RGD:1318614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308694 Mab21l3 mab-21 like 3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1602303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 1308694 Mab21l3 mab-21 like 3 gene DOID:630 genetic disease ISO RGD:1602303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308695 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:11372 megacolon ISO RGD:1318617 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308695 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1318617 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308695 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:630 genetic disease ISO RGD:1318617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308695 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318617 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308696 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308696 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:630 genetic disease ISO RGD:1602992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308696 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308696 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602992 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308696 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308697 Rmdn3 regulator of microtubule dynamics 3 gene DOID:2717 Bloom syndrome ISO RGD:1602700 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308697 Rmdn3 regulator of microtubule dynamics 3 gene DOID:630 genetic disease ISO RGD:1602700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308697 Rmdn3 regulator of microtubule dynamics 3 gene DOID:9256 colorectal cancer ISO RGD:1602700 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318621 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1318621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency PMID:17878938|PMID:26639818 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1318621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10818001|PMID:17878938 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:3146 lipid metabolism disorder ISO RGD:1318621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878938 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1318621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308698 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318621 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308699 Msl3l2 male-specific lethal 3-like 2 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1308701 Aaas aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17853339|PMID:23315990 1308701 Aaas aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:7240710 20130221 OMIM 1308701 Aaas aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Achalasia-alacrima syndrome PMID:11062474|PMID:11159947|PMID:11701718|PMID:11914417|PMID:12429595|PMID:12700313|PMID:12730363|PMID:12752575|PMID:15173230|PMID:15666842|PMID:16199547|PMID:16609705|PMID:18172684|PMID:18261130|PMID:18414213|PMID:18615337|PMID:18628786|PMID:20674935|PMID:22538409|PMID:25741868|PMID:26243364|PMID:26595337|PMID:27133709|PMID:28492532|PMID:29255950|PMID:29874194|PMID:30069287|PMID:30455725|PMID:31600784 1308701 Aaas aladin WD repeat nucleoporin gene DOID:10907 microcephaly ISO RGD:1318625 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308701 Aaas aladin WD repeat nucleoporin gene DOID:630 genetic disease ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318625 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11062474|PMID:11914417|PMID:25741868 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9005219 Abnormal Reflexes ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9006534 Nervous System Malformations ISO RGD:1318625 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9164 achalasia ISO RGD:1318625 D RGD:9068941 20220825 RGD PMID:16098009|REF_RGD_ID:1598514 1308701 Aaas aladin WD repeat nucleoporin gene DOID:9164 achalasia susceptibility ISO RGD:1318625 D RGD:1598514|PMID:16098009 20061201 RGD 1308702 Prpf39 pre-mRNA processing factor 39 gene DOID:13636 Fanconi anemia ISO RGD:1318626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 1308702 Prpf39 pre-mRNA processing factor 39 gene DOID:630 genetic disease ISO RGD:1318626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308702 Prpf39 pre-mRNA processing factor 39 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308703 Ift27 intraflagellar transport 27 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1308703 Ift27 intraflagellar transport 27 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1318628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308703 Ift27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:7240710 20170301 OMIM 1308703 Ift27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 PMID:24488770|PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 1308703 Ift27 intraflagellar transport 27 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308703 Ift27 intraflagellar transport 27 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1308703 Ift27 intraflagellar transport 27 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318628 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 1308703 Ift27 intraflagellar transport 27 gene DOID:630 genetic disease ISO RGD:1318628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0050557 congenital muscular dystrophy ISS RGD:1318631 D RGD:13592920 20180518 MouseDO OMIM:254100 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318630 D RGD:7240710 20130221 OMIM 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24038877|PMID:24271325|PMID:24518369|PMID:25326635|PMID:25635128|PMID:25741868|PMID:26004199|PMID:26436962|PMID:26467025|PMID:28492532|PMID:29419890|PMID:29970176|PMID:30564623|PMID:32528171|PMID:34167565|PMID:34720847|PMID:7695699|PMID:8218237|PMID:9536098 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30487145|PMID:30564623|PMID:31731261|PMID:33964895|PMID:9536098 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31230720|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:7240710 20170118 OMIM 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: Dystonia 27 PMID:15689448|PMID:17576681|PMID:18378883|PMID:18414213|PMID:20981092|PMID:23572247|PMID:24038877|PMID:25741868|PMID:26004199|PMID:26467025|PMID:26872670|PMID:28492532|PMID:30564623|PMID:30687093|PMID:31265121|PMID:33964895|PMID:9536098 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:1059 intellectual disability ISO RGD:1318630 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:2154 nephroblastoma ISO RGD:1318630 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:3652 Leigh disease ISO RGD:1318630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:423 myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18414213|PMID:25741868|PMID:28492532 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:543 dystonia ISO RGD:1318630 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:630 genetic disease ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:16199547|PMID:18366090|PMID:19344236|PMID:20976770|PMID:21280092|PMID:24038877|PMID:25741868|PMID:26467025|PMID:27854213|PMID:28492532|PMID:28688748|PMID:7695699|PMID:8218237|PMID:9724608 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:767 muscular atrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:28492532 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318630 D RGD:7240710 20190327 OMIM 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23175733|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25214167|PMID:25224718|PMID:25326635|PMID:25380242|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26752647|PMID:26872670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28660205|PMID:28688748|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29894794|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31127727|PMID:31230720|PMID:31265121|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098|PMID:9724608 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1318630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9004866 Ataxia ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxia PMID:25741868|PMID:28492532 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318630 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy ISO RGD:1318630 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:30564623|PMID:9536098 1308704 Col6a3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318630 D RGD:1600940|PMID:9536084 20070402 RGD Bethlem myopathy, OMIM:158810;DNA:missense mutation 1308705 Zfp592 zinc finger protein 592 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12030328|PMID:20531441|PMID:25741868|PMID:26123727 1308705 Zfp592 zinc finger protein 592 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318632 D RGD:11554173 20170321 CTD CTD Direct Evidence: marker/mechanism PMID:20531441 1308705 Zfp592 zinc finger protein 592 gene DOID:10487 Hirschsprung's disease ISO RGD:1318632 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1308705 Zfp592 zinc finger protein 592 gene DOID:2717 Bloom syndrome ISO RGD:1318632 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308705 Zfp592 zinc finger protein 592 gene DOID:3312 bipolar disorder ISO RGD:1318632 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1308705 Zfp592 zinc finger protein 592 gene DOID:630 genetic disease ISO RGD:1318632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308705 Zfp592 zinc finger protein 592 gene DOID:9256 colorectal cancer ISO RGD:1318632 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308706 RGD1308706 similar to RIKEN cDNA 4921524J17 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1604693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:1540 parathyroid carcinoma ISO RGD:1354268 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:5812 MHC class II deficiency ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:630 genetic disease ISO RGD:1354268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:9008086 Developmental Disabilities ISO RGD:1354268 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1308707 Ubap2l ubiquitin associated protein 2-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354268 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308708 Tjap1 tight junction associated protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308708 Tjap1 tight junction associated protein 1 gene DOID:630 genetic disease ISO RGD:1318637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308708 Tjap1 tight junction associated protein 1 gene DOID:905 Zellweger syndrome ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308709 Tm4sf5 transmembrane 4 L six family member 5 gene DOID:630 genetic disease ISO RGD:1318639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308710 Crim1 cysteine rich transmembrane BMP regulator 1 gene DOID:630 genetic disease ISO RGD:1318641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308711 Zfp697 zinc finger protein 697 gene DOID:0050722 PHGDH deficiency ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 1308711 Zfp697 zinc finger protein 697 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 1308711 Zfp697 zinc finger protein 697 gene DOID:630 genetic disease ISO RGD:1603938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308712 Guca1a guanylate cyclase activator 1A gene DOID:0050439 Usher syndrome ISO RGD:30301436 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:11146732|PMID:28492532|PMID:30718709 1308712 Guca1a guanylate cyclase activator 1A gene DOID:0050444 infantile Refsum disease ISO RGD:30301436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308712 Guca1a guanylate cyclase activator 1A gene DOID:0050572 cone-rod dystrophy ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 1308712 Guca1a guanylate cyclase activator 1A gene DOID:0050795 cone dystrophy ISO RGD:30301436 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:15505030|PMID:25741868|PMID:28492532 1308712 Guca1a guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:30301436 D RGD:7240710 20200708 OMIM 1308712 Guca1a guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:11146732|PMID:11484154|PMID:15505030|PMID:15735604|PMID:15790869|PMID:15953638|PMID:18706439|PMID:19459154|PMID:23472098|PMID:24024198|PMID:24352742|PMID:24875811|PMID:25741868|PMID:26358777|PMID:26766544|PMID:28025326|PMID:28041643|PMID:28442884|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30184081|PMID:30622141|PMID:30718709|PMID:31728034|PMID:31882816|PMID:31979372|PMID:32025184|PMID:33546218|PMID:9425045|PMID:9425234|PMID:9651312|PMID:9702199 1308712 Guca1a guanylate cyclase activator 1A gene DOID:10584 retinitis pigmentosa ISO RGD:30301436 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15505030|PMID:15953638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32025184|PMID:9425234|PMID:9651312|PMID:9702199 1308712 Guca1a guanylate cyclase activator 1A gene DOID:4448 macular degeneration ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11146732|PMID:15953638|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9425234|PMID:9651312|PMID:9702199 1308712 Guca1a guanylate cyclase activator 1A gene DOID:630 genetic disease ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308712 Guca1a guanylate cyclase activator 1A gene DOID:8501 fundus dystrophy ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15735604|PMID:15790869|PMID:15953638|PMID:23472098|PMID:24352742|PMID:24875811|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29555955|PMID:9425234|PMID:9651312|PMID:9702199 1308712 Guca1a guanylate cyclase activator 1A gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1318644 D RGD:1599353|PMID:9425234 20070130 RGD autosomal dominant cone dystrophy 3, OMIM:602093 1308712 Guca1a guanylate cyclase activator 1A gene DOID:905 Zellweger syndrome ISO RGD:30301436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:12849 autistic disorder ISO RGD:1318646 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autism 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:630 genetic disease ISO RGD:1318646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318646 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9005779 Polyploidy ISO RGD:1318646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9006979 Developmental and Epileptic Encephalopathy 109 ISO RGD:1318646 D RGD:7240710 20221214 OMIM 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9006979 Developmental and Epileptic Encephalopathy 109 ISO RGD:1318646 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 109 PMID:31318984|PMID:34788397 1308713 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 1308714 Trim36 tripartite motif-containing 36 gene DOID:0060668 anencephaly ISO RGD:1318648 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism 1308714 Trim36 tripartite motif-containing 36 gene DOID:0060668 anencephaly ISO RGD:1318648 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:28087737 1308714 Trim36 tripartite motif-containing 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308714 Trim36 tripartite motif-containing 36 gene DOID:12849 autistic disorder ISO RGD:1318648 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:30208311 1308714 Trim36 tripartite motif-containing 36 gene DOID:630 genetic disease ISO RGD:1318648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308714 Trim36 tripartite motif-containing 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318648 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308714 Trim36 tripartite motif-containing 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308714 Trim36 tripartite motif-containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:7240710 20210728 OMIM 1308714 Trim36 tripartite motif-containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Anencephaly 1 PMID:25741868 1308715 Ipo5 importin 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1603712 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1308715 Ipo5 importin 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1603712 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308715 Ipo5 importin 5 gene DOID:630 genetic disease ISO RGD:1603712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308715 Ipo5 importin 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1603712 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1308715 Ipo5 importin 5 gene DOID:9006205 Animal Disease Models ISO RGD:1603712 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1318653 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:14250 Down syndrome ISO RGD:1318653 D RGD:5143983|PMID:9328467 20110727 RGD protein:increased expression:cerebellum (human) 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:1318653 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:630 genetic disease ISO RGD:1318653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:7148 rheumatoid arthritis ISO RGD:1318653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9005698 ZTTK Syndrome ISO RGD:1318653 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9006205 Animal Disease Models ISO RGD:1318653 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308717 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318653 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0050439 Usher syndrome ISO RGD:1318655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26426422|PMID:26445815|PMID:26992781|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30055715|PMID:30311386|PMID:34837038 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23023331|PMID:25741868|PMID:30303587 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:23023331 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:7240710 20130807 OMIM 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 48 PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26416264|PMID:26426422|PMID:26445815|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30303587|PMID:30311386|PMID:34837038 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318655 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18505454|PMID:20301442|PMID:23023331 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23023331 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:7240710 20130807 OMIM 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1J PMID:18505454|PMID:20301442|PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26226137|PMID:26445815|PMID:28492532|PMID:29112224|PMID:30303587 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1318655 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:630 genetic disease ISO RGD:1318655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:9004538 Hearing Loss ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26173970|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30311386 1308718 Cib2 calcium and integrin binding family member 2 gene DOID:9256 colorectal cancer ISO RGD:1318655 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308719 Ktn1 kinectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308720 Lrrc24 leucine rich repeat containing 24 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 1308720 Lrrc24 leucine rich repeat containing 24 gene DOID:630 genetic disease ISO RGD:1605162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308721 Tspan32 tetraspanin 32 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1308721 Tspan32 tetraspanin 32 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318659 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1308721 Tspan32 tetraspanin 32 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1308721 Tspan32 tetraspanin 32 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318659 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1308721 Tspan32 tetraspanin 32 gene DOID:630 genetic disease ISO RGD:1318659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308721 Tspan32 tetraspanin 32 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1318659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1308722 Ybey ybeY metalloendoribonuclease gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1308722 Ybey ybeY metalloendoribonuclease gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1318661 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1308722 Ybey ybeY metalloendoribonuclease gene DOID:0110266 cataract 9 multiple types ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1308722 Ybey ybeY metalloendoribonuclease gene DOID:12849 autistic disorder ISO RGD:1318661 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308722 Ybey ybeY metalloendoribonuclease gene DOID:630 genetic disease ISO RGD:1318661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308722 Ybey ybeY metalloendoribonuclease gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318661 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1308722 Ybey ybeY metalloendoribonuclease gene DOID:9263 homocystinuria ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1308722 Ybey ybeY metalloendoribonuclease gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308723 Znhit6 zinc finger, HIT-type containing 6 gene DOID:630 genetic disease ISO RGD:1607024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308726 Sf3a3 splicing factor 3a, subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318668 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308726 Sf3a3 splicing factor 3a, subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1308726 Sf3a3 splicing factor 3a, subunit 3 gene DOID:630 genetic disease ISO RGD:1318668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308727 Apobec2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1318670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308728 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:1909 melanoma ISO RGD:1318672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1308728 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1318672 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1308728 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:630 genetic disease ISO RGD:1318672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1318675 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1318675 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:7240710 20130221 OMIM 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:21597265|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28473773|PMID:28492532|PMID:28659819 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:1059 intellectual disability ISO RGD:1318675 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1318675 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:5419 schizophrenia ISO RGD:1318675 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1308730 Mmp20 matrix metallopeptidase 20 gene DOID:630 genetic disease ISO RGD:1318675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:1540 parathyroid carcinoma ISO RGD:1352612 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:3755 antithrombin III deficiency ISO RGD:1352612 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:630 genetic disease ISO RGD:1352612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:869 cholesteatoma ISO RGD:1352612 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1308731 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352612 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308732 Tmem30b transmembrane protein 30B gene DOID:1909 melanoma ISO RGD:1318678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1308732 Tmem30b transmembrane protein 30B gene DOID:630 genetic disease ISO RGD:1318678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308733 Mrps26 mitochondrial ribosomal protein S26 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1308733 Mrps26 mitochondrial ribosomal protein S26 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1308733 Mrps26 mitochondrial ribosomal protein S26 gene DOID:630 genetic disease ISO RGD:1318680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308734 Plbd1 phospholipase B domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1308734 Plbd1 phospholipase B domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1308734 Plbd1 phospholipase B domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605619 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308734 Plbd1 phospholipase B domain containing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605619 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1308734 Plbd1 phospholipase B domain containing 1 gene DOID:630 genetic disease ISO RGD:1605619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:0050469 Costello syndrome ISO RGD:1318683 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Costello syndrome 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1318683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1318683 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318683 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:3490 Noonan syndrome ISO RGD:1318683 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:28492532 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1318683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:25741868|PMID:26214305|PMID:26635368|PMID:27763634|PMID:28492532|PMID:31401120|PMID:31443423|PMID:9536098 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:8712 neurofibromatosis ISO RGD:1318683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis PMID:17704776|PMID:24469042|PMID:25741868|PMID:28492532 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1318683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:9007799 Legius Syndrome ISO RGD:1318683 D RGD:7240710 20130221 OMIM 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:9007799 Legius Syndrome ISO RGD:1318683 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome PMID:15683364|PMID:16199547|PMID:17576681|PMID:17704776|PMID:19366998|PMID:19443465|PMID:19920235|PMID:20179001|PMID:20571013|PMID:20945555|PMID:21089071|PMID:21520333|PMID:21548021|PMID:21649642|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:24469042|PMID:25074460|PMID:25741868|PMID:25883013|PMID:25981987|PMID:26084686|PMID:26214305|PMID:26635368|PMID:27081556|PMID:27763634|PMID:28150585|PMID:28492532|PMID:28747691|PMID:29758562|PMID:31370276|PMID:31401120|PMID:31443423|PMID:31573083|PMID:31629629|PMID:32107864|PMID:32396270|PMID:32575496|PMID:32806529|PMID:9536098 1308735 Spred1 sprouty-related, EVH1 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318683 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308736 Hmgn5b high mobility group nucleosome binding domain 5B gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308737 Pias4 protein inhibitor of activated STAT, 4 gene DOID:13938 amenorrhea ISO RGD:1318687 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1308737 Pias4 protein inhibitor of activated STAT, 4 gene DOID:630 genetic disease ISO RGD:1318687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:0060673 Peters anomaly ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868|PMID:36450800 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1603059 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:10629 microphthalmia ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos PMID:25741868|PMID:36450800 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:3910 lung adenocarcinoma ISO RGD:1603059 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:630 genetic disease ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:9002049 Anophthalmia ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:36450800 1308738 Arhgap35 Rho GTPase activating protein 35 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603059 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 1308739 Phf21b PHD finger protein 21B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344183 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1308739 Phf21b PHD finger protein 21B gene DOID:1059 intellectual disability ISO RGD:1344183 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308739 Phf21b PHD finger protein 21B gene DOID:630 genetic disease ISO RGD:1344183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308740 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:630 genetic disease ISO RGD:1602450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308740 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602450 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1308740 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602450 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1308740 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:1602450 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1308740 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1602450 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1308743 Ern2 endoplasmic reticulum to nucleus signaling 2 gene DOID:630 genetic disease ISO RGD:1346348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308744 Dlx4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:7240710 20190315 OMIM 1308744 Dlx4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofacial cleft 15 PMID:25741868|PMID:25954033|PMID:28492532 1308744 Dlx4 distal-less homeobox 4 gene DOID:630 genetic disease ISO RGD:1318695 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308744 Dlx4 distal-less homeobox 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1308745 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:1059 intellectual disability ISO RGD:1604026 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308745 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:6000 congestive heart failure ISO RGD:1604026 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 1308745 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:630 genetic disease ISO RGD:1604026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308745 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604026 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308745 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308745 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1604026 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:0050568 spondylocostal dysostosis ISS RGD:1318698 D RGD:13592920 20180518 MouseDO OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1604749 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:25343988|PMID:26238661 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:7240710 20170208 OMIM 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1604749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1604749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308746 Ripply2 ripply transcriptional repressor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1604749 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1308747 Pimreg PICALM interacting mitotic regulator gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 1308747 Pimreg PICALM interacting mitotic regulator gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604005 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1308747 Pimreg PICALM interacting mitotic regulator gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1604005 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1308747 Pimreg PICALM interacting mitotic regulator gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308747 Pimreg PICALM interacting mitotic regulator gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1604005 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 1308747 Pimreg PICALM interacting mitotic regulator gene DOID:630 genetic disease ISO RGD:1604005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308748 Rsbn1l round spermatid basic protein 1-like gene DOID:0080600 COVID-19 ISO RGD:1351057 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1308748 Rsbn1l round spermatid basic protein 1-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351057 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308748 Rsbn1l round spermatid basic protein 1-like gene DOID:630 genetic disease ISO RGD:1351057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308748 Rsbn1l round spermatid basic protein 1-like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1351057 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1308749 Lhx8 LIM homeobox 8 gene DOID:630 genetic disease ISO RGD:1606630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318705 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1318705 D RGD:7387330|PMID:19098994 20131029 RGD DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1318705 D RGD:7394723|PMID:18223248 20131031 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1318705 D RGD:7387334|PMID:21236409 20131029 RGD DNA:SNP:exon:p.R141L (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1318705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1318705 D RGD:7394723|PMID:18223248 20131031 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25706626|PMID:28553957 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387325|PMID:23378724 20131029 RGD DNA:SNP: :p.R141L (rs1048661) (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387326|PMID:19373106 20131029 RGD DNA:SNP: :multiple 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387327|PMID:19503743 20131029 RGD DNA:SNP, haplotypes: :rs1048661, rs3825942 (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387328|PMID:22605916 20131029 RGD DNA:SNP:exon:rs1048661, rs3825942 (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387329|PMID:21740868 20131029 RGD 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387331|PMID:21212179 20131029 RGD DNA:SNP, haplotypes:promoter:multiple 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:7387332|PMID:21320968 20131029 RGD DNA:SNPs:exon:p.R141L, p.G153D (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to PMID:17690259|PMID:18037624|PMID:19343041 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318706 D RGD:7394726|PMID:19029039 20131031 RGD 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1318705 D RGD:7387333|PMID:23288989 20131029 RGD DNA:CNVs 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:1318705 D RGD:7240710 20190502 OMIM 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:2717 Bloom syndrome ISO RGD:1318705 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:5082 liver cirrhosis ISO RGD:1318705 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:5419 schizophrenia ISO RGD:1318705 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:630 genetic disease ISO RGD:1318705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1318706 D RGD:7394725|PMID:18296663 20131031 RGD 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:1318705 D RGD:7394729|PMID:22765198 20131031 RGD DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human) 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:9003936 Cardiomegaly IEP D RGD:7394734|PMID:17378376 20131031 RGD 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:9007023 Prenatal Injuries ISO RGD:1318705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 1308752 Loxl1 lysyl oxidase-like 1 gene DOID:9256 colorectal cancer ISO RGD:1318705 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308753 Dlg5 discs large MAGUK scaffold protein 5 gene DOID:630 genetic disease ISO RGD:1318707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308753 Dlg5 discs large MAGUK scaffold protein 5 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 1308753 Dlg5 discs large MAGUK scaffold protein 5 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 1308754 Zfp653 zinc finger protein 653 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1308754 Zfp653 zinc finger protein 653 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1308754 Zfp653 zinc finger protein 653 gene DOID:0111254 glutaric acidemia I ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1308754 Zfp653 zinc finger protein 653 gene DOID:3413 alpha-mannosidosis ISO RGD:1347968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1308754 Zfp653 zinc finger protein 653 gene DOID:630 genetic disease ISO RGD:1347968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308755 Rbm25 RNA binding motif protein 25 gene DOID:1059 intellectual disability ISO RGD:1318710 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1308755 Rbm25 RNA binding motif protein 25 gene DOID:630 genetic disease ISO RGD:1318710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308756 Zbtb8a zinc finger and BTB domain containing 8a gene DOID:630 genetic disease ISO RGD:1318711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:630 genetic disease ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:9000709 Hereditary Ochronosis ISO RGD:1318713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ochronosis, hereditary PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:9006239 Alkaptonuric Ochronosis ISO RGD:1318713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Alkaptonuric ochronosis PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318713 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:1599472|PMID:8782815 20070205 RGD 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:7240710 20130221 OMIM 1308757 Hgd homogentisate 1, 2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872815|PMID:12872836|PMID:1360590|PMID:14978662|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19096913|PMID:19306858|PMID:19862842|PMID:20301627|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23353776|PMID:23430897|PMID:23519186|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:33621656|PMID:34008892|PMID:34686677|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916 1308758 Igsf11 immunoglobulin superfamily, member 11 gene DOID:630 genetic disease ISO RGD:1318715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308759 Mau2 MAU2 sister chromatid cohesion factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1308759 Mau2 MAU2 sister chromatid cohesion factor gene DOID:630 genetic disease ISO RGD:1318717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308760 Pcdhb1 protocadherin beta 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318719 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1308760 Pcdhb1 protocadherin beta 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308760 Pcdhb1 protocadherin beta 1 gene DOID:10283 prostate cancer ISO RGD:1318719 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308760 Pcdhb1 protocadherin beta 1 gene DOID:630 genetic disease ISO RGD:1318719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308760 Pcdhb1 protocadherin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318719 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308760 Pcdhb1 protocadherin beta 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1318721 D RGD:127285648|PMID:27184481 20210624 RGD protein:decreased expression:colon, nucleus 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1318721 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 PMID:11161377|PMID:17576681|PMID:22426308|PMID:22726846|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25326635|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26364901|PMID:26987750|PMID:28177878|PMID:28492532|PMID:29230670|PMID:31759698|PMID:33024572|PMID:9536098 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318721 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1318721 D RGD:127285653|PMID:30120966 20210624 RGD 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1318721 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1318721 D RGD:151708708|PMID:28365909 20220414 RGD DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1059 intellectual disability ISO RGD:1318721 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1826 epilepsy ISO RGD:1318721 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1318721 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:10521299|PMID:16199547|PMID:21108436|PMID:21208904|PMID:24933152|PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1318721 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1318721 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical PMID:10521299|PMID:10739763|PMID:12226744|PMID:18414213|PMID:19124645|PMID:21108436|PMID:21208904|PMID:24123847|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28873162|PMID:34308366|PMID:9671307|PMID:9892189 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2394 ovarian cancer ISO RGD:1318721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3192 neurilemmoma ISO RGD:1318721 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Schwannoma PMID:18647326|PMID:22434358|PMID:22949514|PMID:24933152|PMID:25741868|PMID:28492532|PMID:29517885 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362817 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:151708704|PMID:29409008 20220414 RGD DNA:multiple:multiple (human) 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:151708708|PMID:28365909 20220414 RGD DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:155804288|PMID:22038540 20230116 RGD DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic | ClinVar Annotator: match by term: Schwannomatosis 2 PMID:10521299|PMID:17357086|PMID:18285426|PMID:18414213|PMID:18647326|PMID:19124645|PMID:19582488|PMID:20930055|PMID:21208904|PMID:22038540|PMID:22434358|PMID:22949514|PMID:24728327|PMID:24933152|PMID:25741868|PMID:26073604|PMID:28492532|PMID:29517885 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 neurilemmomatosis susceptibility ISO RGD:1318721 D RGD:7240710 20230510 OMIM 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3565 meningioma ISO RGD:1318721 D RGD:155804288|PMID:22038540 20230116 RGD DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25009291|PMID:26343384 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:155804291|PMID:16528370 20230116 RGD protein:decreased expression:brain, kidney, soft tissue: 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:1599055|PMID:9671307 20070115 RGD DNA:nonsense mutation, deletions, insertions:multiple (human) 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1318721 D RGD:155804290|PMID:29218250 20230116 RGD mRNA,protein:decreased expression:kidney: 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5119 ovarian cyst susceptibility ISO RGD:1318722 D RGD:155804292|PMID:29684361 20230116 RGD 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5419 schizophrenia ISO RGD:1318721 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5485 synovial sarcoma ISO RGD:1318721 D RGD:11069485|PMID:26520417 20210624 RGD 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:6193 epithelioid sarcoma ISO RGD:1318721 D RGD:155804293|PMID:19033866 20230116 RGD protein:decreased expression:epithelial cell: 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:630 genetic disease ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18285426|PMID:22726846|PMID:23906836|PMID:25741868|PMID:26364901|PMID:28120103|PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318721 D RGD:127285647|PMID:27111394 20210624 RGD mRNA:decreased expression:liver 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1318721 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:28492532 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10521299|PMID:11161377|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:34308366|PMID:9536098|PMID:9892189 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10521299|PMID:11161377|PMID:12892231|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:32218533|PMID:34308366|PMID:9536098|PMID:9892189 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1318721 D RGD:8554872 20180320 ClinVar ClinVar Annotator: match by term: Neoplasm of the central nervous system PMID:25741868 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1318721 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 1308761 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008582 Developmental Disease ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1308762 Gprin1 G protein-regulated inducer of neurite outgrowth 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308762 Gprin1 G protein-regulated inducer of neurite outgrowth 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308762 Gprin1 G protein-regulated inducer of neurite outgrowth 1 gene DOID:630 genetic disease ISO RGD:1606183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308762 Gprin1 G protein-regulated inducer of neurite outgrowth 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606183 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1308762 Gprin1 G protein-regulated inducer of neurite outgrowth 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1308763 Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1308763 Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1318724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1308763 Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 gene DOID:630 genetic disease ISO RGD:1318724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308763 Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308764 Psph phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:7240710 20140911 OMIM 1308764 Psph phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:14673469|PMID:16199547|PMID:17576681|PMID:24146633|PMID:25080166|PMID:25741868|PMID:26589312|PMID:26633542|PMID:28492532|PMID:31515488|PMID:9222972|PMID:9536098 1308764 Psph phosphoserine phosphatase gene DOID:12849 autistic disorder ISO RGD:1318726 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308764 Psph phosphoserine phosphatase gene DOID:1826 epilepsy ISO RGD:1318726 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308764 Psph phosphoserine phosphatase gene DOID:2187 amelogenesis imperfecta ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:28492532 1308764 Psph phosphoserine phosphatase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318726 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308764 Psph phosphoserine phosphatase gene DOID:630 genetic disease ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1308764 Psph phosphoserine phosphatase gene DOID:9008397 Maternal Phenylketonuria IEP D RGD:2308873|PMID:7201630 20090612 RGD 1308764 Psph phosphoserine phosphatase gene DOID:9252 amino acid metabolic disorder ISO RGD:1318726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14673469 1308766 Irf9 interferon regulatory factor 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1308766 Irf9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 ISO RGD:1318730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections PMID:30143481|PMID:30826365 1308766 Irf9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 susceptibility ISO RGD:1318730 D RGD:7240710 20191127 OMIM 1308766 Irf9 interferon regulatory factor 9 gene DOID:1168 familial hyperlipidemia IEP D RGD:125093744|PMID:32462510 20210330 RGD associated with acute pancreatitis;protein:increased expression:kidney 1308766 Irf9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy ameliorates ISO RGD:1318731 D RGD:125093743|PMID:24144649 20210330 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy exacerbates ISO RGD:1318731 D RGD:125093743|PMID:24144649 20210330 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1318731 D RGD:124715479|PMID:24760883 20210326 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1318731 D RGD:124715469|PMID:22496215 20210325 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1318731 D RGD:124715467|PMID:28878077 20210325 RGD DNA:mutation: : 1308766 Irf9 interferon regulatory factor 9 gene DOID:1883 hepatitis C ISO RGD:1318730 D RGD:11074283|PMID:26216956 20210326 RGD protein:increased expression:liver 1308766 Irf9 interferon regulatory factor 9 gene DOID:2913 acute pancreatitis IEP D RGD:125093744|PMID:32462510 20210330 RGD mRNA,protein:increased expression:kidney 1308766 Irf9 interferon regulatory factor 9 gene DOID:630 genetic disease ISO RGD:1318730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308766 Irf9 interferon regulatory factor 9 gene DOID:8704 genital herpes exacerbates ISO RGD:1318731 D RGD:125093738|PMID:28264883 20210329 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1318731 D RGD:124715468|PMID:25918247 20210325 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1308766 Irf9 interferon regulatory factor 9 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates IMP D RGD:125093745|PMID:29480757 20210330 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308766 Irf9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318730 D RGD:125093742|PMID:25150882 20210330 RGD protein:increased expression:left ventricular free wall 1308766 Irf9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1318731 D RGD:125093742|PMID:25150882 20210330 RGD 1308766 Irf9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1318731 D RGD:125093742|PMID:25150882 20210330 RGD 1308767 Dhx36 DEAH-box helicase 36 gene DOID:630 genetic disease ISO RGD:1318732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308768 Slurp1 secreted Ly6/Plaur domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:7240710 20210303 OMIM 1308768 Slurp1 secreted Ly6/Plaur domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease PMID:11285253|PMID:12483299|PMID:12535203|PMID:12603845|PMID:14674887|PMID:14756676|PMID:17008884|PMID:23290002|PMID:24033266|PMID:24093092|PMID:24604124|PMID:25741868|PMID:28492532|PMID:29231248|PMID:9887370 1308768 Slurp1 secreted Ly6/Plaur domain containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1308768 Slurp1 secreted Ly6/Plaur domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25168896 1308768 Slurp1 secreted Ly6/Plaur domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:1599051|PMID:11285253 20070115 RGD DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human) 1308768 Slurp1 secreted Ly6/Plaur domain containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:1331525|PMID:15118671 19990101 GAD 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:1599876|PMID:2234061 20070220 RGD 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:7246919|PMID:22824526 20130626 RGD 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:10862089|PMID:12509227|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16491090|PMID:16792756|PMID:16905156|PMID:1702221|PMID:17576681|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:21148310|PMID:22081045|PMID:2234061|PMID:23194742|PMID:24135642|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:7240710 20180418 OMIM 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:10447254|PMID:10862089|PMID:12509227|PMID:1339397|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16098033|PMID:16199547|PMID:16491090|PMID:16905156|PMID:1702221|PMID:17576681|PMID:18414213|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:22081045|PMID:22190868|PMID:2234061|PMID:23194742|PMID:24063568|PMID:24135642|PMID:24704021|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:34234304|PMID:35197637|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271|PMID:9753735 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:1059 intellectual disability ISO RGD:1318735 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:12712 nephronophthisis ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:2513 basal cell carcinoma ISO RGD:1318735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:2962 Cockayne syndrome ISO RGD:1318736 D RGD:10401087|PMID:19114557 20150924 RGD 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1318735 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16792756|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:9001793 Generalized Epilepsy ISO RGD:1318735 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:9002245 Intestinal Neoplasms ISO RGD:1318735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16962818 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:9004464 Skin Neoplasms ISO RGD:1318735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10755388|PMID:16962818 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:9006269 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone PMID:25741868|PMID:28492532|PMID:31478152 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1318735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9885240|PMID:21216194 1308769 Xpa XPA, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318735 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 1308770 Mrps25 mitochondrial ribosomal protein S25 gene DOID:0060417 3p deletion syndrome ISO RGD:1318737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1308770 Mrps25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:7240710 20200930 OMIM 1308770 Mrps25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:8554872 20201013 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 PMID:31039582 1308770 Mrps25 mitochondrial ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1318737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308772 Vwa8 von Willebrand factor A domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1604630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 1308772 Vwa8 von Willebrand factor A domain containing 8 gene DOID:630 genetic disease ISO RGD:1604630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308772 Vwa8 von Willebrand factor A domain containing 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1604630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:34660594|PMID:36937954 1308773 Psmb11 proteasome subunit beta 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:2291820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1308773 Psmb11 proteasome subunit beta 11 gene DOID:630 genetic disease ISO RGD:2291820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308773 Psmb11 proteasome subunit beta 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:2291820 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1308773 Psmb11 proteasome subunit beta 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:2291820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308774 Slc25a40 solute carrier family 25, member 40 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607018 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308774 Slc25a40 solute carrier family 25, member 40 gene DOID:630 genetic disease ISO RGD:1607018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308775 C14h5orf52 similar to human chromosome 5 open reading frame 52 gene DOID:630 genetic disease ISO RGD:2303474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308776 Capsl calcyphosine-like gene DOID:630 genetic disease ISO RGD:1601932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308776 Capsl calcyphosine-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601932 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318746 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:7240710 20150909 OMIM 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318746 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1318746 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:1059 intellectual disability ISO RGD:1318746 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:2661 myoepithelioma ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1308777 Numa1 nuclear mitotic apparatus protein 1 gene DOID:630 genetic disease ISO RGD:1318746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308778 Upf3a UPF3A, regulator of nonsense mediated mRNA decay gene DOID:2222 factor X deficiency ISO RGD:1318748 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1308778 Upf3a UPF3A, regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1318748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308779 Chmp7 charged multivesicular body protein 7 gene DOID:630 genetic disease ISO RGD:1602310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308779 Chmp7 charged multivesicular body protein 7 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1602310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1308781 Septin4 septin 4 gene DOID:0050777 Joubert syndrome ISO RGD:1349607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1308781 Septin4 septin 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1349607 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 1308781 Septin4 septin 4 gene DOID:12217 Lewy body dementia ISO RGD:1349607 D RGD:13504670|PMID:12695511 20180116 RGD 1308781 Septin4 septin 4 gene DOID:14330 Parkinson's disease ISO RGD:1349607 D RGD:13504670|PMID:12695511 20180116 RGD 1308781 Septin4 septin 4 gene DOID:630 genetic disease ISO RGD:1349607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308782 Zfp772 zinc finger protein 772 gene DOID:630 genetic disease ISO RGD:1349269 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:0050475 Weill-Marchesani syndrome ISS RGD:1318756 D RGD:13592920 20180518 MouseDO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1318756 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:19836009|PMID:24940034|PMID:28492532|PMID:32499604 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:1070 primary open angle glaucoma ISO RGD:12401864 D RGD:9068941 20230511 OMIA Glaucoma, primary open angle, ADAMTS17-related PMID:26277300|PMID:26456751|PMID:26474315|PMID:26683476|PMID:26945802|PMID:27192202|PMID:27681326|PMID:28176809|PMID:29287154|PMID:31131111 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:630 genetic disease ISO RGD:1318756 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1318756 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:7240710 20130221 OMIM 1308783 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome PMID:17576681|PMID:19836009|PMID:22486325|PMID:24940034|PMID:25741868|PMID:28492532|PMID:31848748|PMID:32616716|PMID:9536098 1308784 Tnks tankyrase gene DOID:630 genetic disease ISO RGD:1343497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308784 Tnks tankyrase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343497 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:155903058 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:155996627 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:156067589 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:156106561 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:156253644 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:156273923 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:156351726 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:630 genetic disease ISO RGD:329400829 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308785 RAET1L retinoic acid early transcript 1L gene DOID:986 alopecia areata ISO RGD:1318758 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 1308785 Raet1l retinoic acid early transcript 1L gene DOID:9004283 Transplant Rejection IEP D RGD:9685184|PMID:20306467 20141222 RGD 1308787 Elfn1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1642766 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity PMID:24312227|PMID:34509675 1308787 Elfn1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1642766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308788 Ripply3 ripply transcriptional repressor 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1308788 Ripply3 ripply transcriptional repressor 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318761 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1308788 Ripply3 ripply transcriptional repressor 3 gene DOID:1826 epilepsy ISO RGD:1318761 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308788 Ripply3 ripply transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1318761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308789 Jph1 junctophilin 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1318763 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 1308789 Jph1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:7240710 20151216 OMIM 1308789 Jph1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106|PMID:25168384 1308789 Jph1 junctophilin 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1318763 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 1308789 Jph1 junctophilin 1 gene DOID:630 genetic disease ISO RGD:1318763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318766 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1318766 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:1059 intellectual disability ISO RGD:1318766 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:11054 urinary bladder cancer ISO RGD:1318766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:2661 myoepithelioma ISO RGD:1318766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318766 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1308791 Smc1b structural maintenance of chromosomes 1B gene DOID:630 genetic disease ISO RGD:1318766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308792 Lins1 lines homolog 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1602699 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1308792 Lins1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:7240710 20150902 OMIM 1308792 Lins1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 27 PMID:21937992|PMID:23773660|PMID:25741868|PMID:28492532|PMID:30090841|PMID:32499722|PMID:32802957 1308792 Lins1 lines homolog 1 gene DOID:1059 intellectual disability ISO RGD:1602699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1308792 Lins1 lines homolog 1 gene DOID:1059 intellectual disability ISO RGD:1602699 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1308792 Lins1 lines homolog 1 gene DOID:10907 microcephaly ISO RGD:1602699 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308792 Lins1 lines homolog 1 gene DOID:630 genetic disease ISO RGD:1602699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308792 Lins1 lines homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602699 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308793 Ddx4 DEAD-box helicase 4 gene DOID:630 genetic disease ISO RGD:1318770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308793 Ddx4 DEAD-box helicase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318770 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308795 Rfx7 regulatory factor X, 7 gene DOID:10907 microcephaly ISO RGD:1603966 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308795 Rfx7 regulatory factor X, 7 gene DOID:2717 Bloom syndrome ISO RGD:1603966 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308795 Rfx7 regulatory factor X, 7 gene DOID:630 genetic disease ISO RGD:1603966 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33658631 1308795 Rfx7 regulatory factor X, 7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:7240710 20230505 OMIM 1308795 Rfx7 regulatory factor X, 7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities PMID:25741868|PMID:33584783|PMID:33658631|PMID:36334883 1308795 Rfx7 regulatory factor X, 7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603966 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1308795 Rfx7 regulatory factor X, 7 gene DOID:9256 colorectal cancer ISO RGD:1603966 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308796 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 gene DOID:0060041 autism spectrum disorder ISO RGD:1606166 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308796 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1606166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16436457|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:27025581|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33786896 1308796 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:7240710 20130221 OMIM 1308796 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 PMID:16436457|PMID:18034255|PMID:22992804|PMID:23621129|PMID:23871423|PMID:24397709|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:26762237|PMID:27025581|PMID:27449533|PMID:27735052|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33223529|PMID:33786896 1308796 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 gene DOID:3310 atopic dermatitis ISO RGD:1606166 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:25741868 1308796 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 gene DOID:630 genetic disease ISO RGD:1606166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308800 Csk C-terminal Src kinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1308800 Csk C-terminal Src kinase gene DOID:2717 Bloom syndrome ISO RGD:1318780 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308800 Csk C-terminal Src kinase gene DOID:2723 dermatitis ISO RGD:1318781 D RGD:5134363|PMID:14975240 20110701 RGD 1308800 Csk C-terminal Src kinase gene DOID:5419 schizophrenia ISO RGD:1318780 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308800 Csk C-terminal Src kinase gene DOID:552 pneumonia ISO RGD:1318781 D RGD:5134363|PMID:14975240 20110701 RGD 1308800 Csk C-terminal Src kinase gene DOID:630 genetic disease ISO RGD:1318780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308800 Csk C-terminal Src kinase gene DOID:684 hepatocellular carcinoma IEP D RGD:5134372|PMID:9918913 20110701 RGD protein:decreased expression:liver 1308800 Csk C-terminal Src kinase gene DOID:9002211 Hyperalgesia ISO RGD:1318780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 1308800 Csk C-terminal Src kinase gene DOID:9002221 Hyperplasia IEP D RGD:5134365|PMID:15961079 20110701 RGD mRNA, protein:decreased expression:large intestine mucosa 1308800 Csk C-terminal Src kinase gene DOID:9002457 Experimental Arthritis IMP D RGD:5134371|PMID:10411542 20110701 RGD 1308800 Csk C-terminal Src kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042117 1308800 Csk C-terminal Src kinase gene DOID:9256 colorectal cancer ISO RGD:1318780 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308801 Nek11 NIMA-related kinase 11 gene DOID:630 genetic disease ISO RGD:1318782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308801 Nek11 NIMA-related kinase 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318782 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1308801 Nek11 NIMA-related kinase 11 gene DOID:9270 alkaptonuria ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:7240710 20130221 OMIM 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0080634 nanophthalmos ISO RGD:1318784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0080690 RASopathy ISO RGD:1318784 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:110 lens disease ISO RGD:1318784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:4448 macular degeneration ISO RGD:1318784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:5419 schizophrenia ISO RGD:1318784 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:630 genetic disease ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:8466 retinal degeneration ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:8501 fundus dystrophy ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:9002122 Nanophthalmos 2 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:28492532|PMID:32996714 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318784 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308802 C1qtnf5 C1q and TNF related 5 gene DOID:9007661 Dwarfism ISO RGD:1318784 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308804 Pgrmc2 progesterone receptor membrane component 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1318787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1308804 Pgrmc2 progesterone receptor membrane component 2 gene DOID:630 genetic disease ISO RGD:1318787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308805 Lysmd3 LysM domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308805 Lysmd3 LysM domain containing 3 gene DOID:630 genetic disease ISO RGD:1606178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308805 Lysmd3 LysM domain containing 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1606178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1308805 Lysmd3 LysM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606178 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308805 Lysmd3 LysM domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1308806 Ttc21a tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:7240710 20190612 OMIM 1308806 Ttc21a tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 37 PMID:30929735 1308806 Ttc21a tetratricopeptide repeat domain 21A gene DOID:630 genetic disease ISO RGD:1348204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308807 Flnc filamin C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32112656 1308807 Flnc filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351925|PMID:25741868|PMID:28492532|PMID:30418145|PMID:30919686 1308807 Flnc filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25351925|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:27171548|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:30086531|PMID:30418145|PMID:30847666|PMID:30919686|PMID:31245841|PMID:32112656 1308807 Flnc filamin C gene DOID:0050952 spastic ataxia ISO RGD:1318791 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1308807 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:7240710 20130221 OMIM 1308807 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 1308807 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 1308807 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 1308807 Flnc filamin C gene DOID:0080307 myofibrillar myopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15929027|PMID:22961544|PMID:25741868|PMID:26472074|PMID:26969713|PMID:28492532|PMID:32022900 1308807 Flnc filamin C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 1308807 Flnc filamin C gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 1308807 Flnc filamin C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 1308807 Flnc filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:7240710 20190315 OMIM 1308807 Flnc filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:35903116|PMID:36104822|PMID:9536098 1308807 Flnc filamin C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656 1308807 Flnc filamin C gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1318791 D RGD:7240710 20140911 OMIM 1308807 Flnc filamin C gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY PMID:15824355|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:21620354|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:35903116|PMID:36104822|PMID:9536098 1308807 Flnc filamin C gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:28492532 1308807 Flnc filamin C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 1308807 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:21520333|PMID:25741868|PMID:26436962|PMID:26666891|PMID:27908349|PMID:28356264|PMID:28492532|PMID:29858533|PMID:31245841|PMID:31627847|PMID:32112656|PMID:32603605 1308807 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 1308807 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 1308807 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 1308807 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 1308807 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 1308807 Flnc filamin C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 1308807 Flnc filamin C gene DOID:397 restrictive cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28356264|PMID:28492532|PMID:30260051|PMID:30418145 1308807 Flnc filamin C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318791 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308807 Flnc filamin C gene DOID:630 genetic disease ISO RGD:1318791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21520333|PMID:25741868|PMID:26436962|PMID:28356264|PMID:28492532|PMID:29858533|PMID:30067491 1308807 Flnc filamin C gene DOID:6419 tetralogy of Fallot ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:27908349 1308807 Flnc filamin C gene DOID:9003163 Heart Block ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27908349|PMID:28492532 1308807 Flnc filamin C gene DOID:9005532 Muscle Weakness ISO RGD:1318791 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Muscle weakness 1308807 Flnc filamin C gene DOID:9007 sudden infant death syndrome ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1308807 Flnc filamin C gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318791 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1308808 Mon2 MON2 homolog, regulator of endosome-to-Golgi trafficking gene DOID:630 genetic disease ISO RGD:1604635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1318793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:1059 intellectual disability ISO RGD:1318793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1318793 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:630 genetic disease ISO RGD:1318793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318793 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte Maturation Defect 8 ISO RGD:1318793 D RGD:7240710 20200930 OMIM 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte Maturation Defect 8 ISO RGD:1318793 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 8 PMID:25741868|PMID:32502391|PMID:34647228 1308809 Btg4 BTG anti-proliferation factor 4 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1308810 Blm BLM RecQ like helicase gene DOID:0050771 pheochromocytoma ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 1308810 Blm BLM RecQ like helicase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1318795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1308810 Blm BLM RecQ like helicase gene DOID:10907 microcephaly ISO RGD:1318795 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746 1308810 Blm BLM RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23129629|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29338689|PMID:29641532|PMID:30840646|PMID:31360874|PMID:31562900|PMID:32566746 1308810 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21440839 1308810 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:1580056|PMID:10779560 19990101 RGD 1308810 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:1599420|PMID:9388480 20070201 RGD 1308810 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:7240710 20130221 OMIM 1308810 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:10069810|PMID:10090915|PMID:10569803|PMID:10734115|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12242432|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:15990871|PMID:16199547|PMID:16876111|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18414213|PMID:18471088|PMID:19763152|PMID:19917125|PMID:20301572|PMID:20307669|PMID:20639533|PMID:20980836|PMID:21113733|PMID:21815139|PMID:22406018|PMID:22582397|PMID:22657828|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24118499|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25653542|PMID:25741868|PMID:25741877|PMID:25794620|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26296701|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214071|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33073370|PMID:33077847|PMID:33193653|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9285778|PMID:9388480|PMID:9536098|PMID:9758720|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:29338689|PMID:30214240|PMID:30840646|PMID:32566746|PMID:7585968 1308810 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:29338689|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 1308810 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 1308810 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968|PMID:9536098 1308810 Blm BLM RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318795 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23129629|PMID:24728327|PMID:25741868|PMID:26788541|PMID:28492532 1308810 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32073752|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33606809|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 1308810 Blm BLM RecQ like helicase gene DOID:9256 colorectal cancer ISO RGD:1318795 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308811 Slc25a26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:7240710 20190315 OMIM 1308811 Slc25a26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 PMID:25741868|PMID:26522469|PMID:28492532 1308811 Slc25a26 solute carrier family 25 member 26 gene DOID:3320 Tay-Sachs disease ISO RGD:1318797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:26522469 1308811 Slc25a26 solute carrier family 25 member 26 gene DOID:630 genetic disease ISO RGD:1318797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522469|PMID:28492532 1308811 Slc25a26 solute carrier family 25 member 26 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318797 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:25741868 1308812 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:2661 myoepithelioma ISO RGD:1318798 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1308812 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:4415 fibrous histiocytoma ISO RGD:1318798 D RGD:1599928|PMID:9973190 20070221 RGD 1308812 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1318798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308812 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318798 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308813 Ccdc47 coiled-coil domain containing 47 gene DOID:630 genetic disease ISO RGD:1603982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308813 Ccdc47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:7240710 20190410 OMIM 1308813 Ccdc47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome PMID:25741868|PMID:30401460 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1318801 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12837689 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:7240710 20171011 OMIM 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21209035|PMID:22446187|PMID:22500027|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28761321|PMID:29127258|PMID:9536098 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:7240710 20130221 OMIM 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McKusick-Kaufman syndrome PMID:10802661|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15666242|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21209035|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28761321|PMID:29127258|PMID:30614526|PMID:33520300 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:12712 nephronophthisis ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:1682 congenital heart disease ISO RGD:1318801 D RGD:1582516|PMID:12107442 20061111 RGD 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318801 D RGD:1581208|PMID:10973251 19990101 RGD 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318801 D RGD:1601414|PMID:15483080 20070419 RGD Bardet-Biedl syndrome 6 (BBS6) 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:20502701|PMID:21209035|PMID:22353939|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26355662|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28624958|PMID:28753627|PMID:28761321|PMID:2896767|PMID:29127258|PMID:30614526|PMID:30718709|PMID:33138063|PMID:33520300|PMID:9536098 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:630 genetic disease ISO RGD:1318801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802661|PMID:10973251|PMID:11567139|PMID:15637713|PMID:15666242|PMID:17576681|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532|PMID:9536098 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:8501 fundus dystrophy ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:1318801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:9245 Alagille syndrome ISO RGD:1318801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:1581208|PMID:10973251 19990101 RGD 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity ISS RGD:1318802 D RGD:13592920 20180518 MouseDO OMIM:601665 1308814 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity no_association ISO RGD:1318801 D RGD:1601414|PMID:15483080 20070419 RGD 1308815 Alg6 ALG6, alpha-1,3-glucosyltransferase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1318803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 1308815 Alg6 ALG6, alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:7240710 20130221 OMIM 1308815 Alg6 ALG6, alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V | ClinVar Annotator: match by term: CDG Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic PMID:10359825|PMID:10852543|PMID:10914684|PMID:10924277|PMID:11106564|PMID:11558905|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:18414213|PMID:19862844|PMID:20398363|PMID:20447155|PMID:21334936|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26453362|PMID:27287710|PMID:27959697|PMID:28139241|PMID:28492532|PMID:31117816|PMID:32398770|PMID:35279850|PMID:9536098 1308815 Alg6 ALG6, alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1318803 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308815 Alg6 ALG6, alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318803 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1308815 Alg6 ALG6, alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308816 Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1603875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1308816 Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1603875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308817 Brf2 BRF2, RNA polymerase III transcription initiation factor subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1308817 Brf2 BRF2, RNA polymerase III transcription initiation factor subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1308817 Brf2 BRF2, RNA polymerase III transcription initiation factor subunit gene DOID:10283 prostate cancer ISO RGD:1318806 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308817 Brf2 BRF2, RNA polymerase III transcription initiation factor subunit gene DOID:607 paraplegia ISO RGD:1318806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1308817 Brf2 BRF2, RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1318806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308818 Cfap210 cilia and flagella associated protein 210 gene DOID:630 genetic disease ISO RGD:2298833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308820 Rassf8 Ras association domain family member 8 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1318811 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1308820 Rassf8 Ras association domain family member 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1318811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1308820 Rassf8 Ras association domain family member 8 gene DOID:630 genetic disease ISO RGD:1318811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308821 Slc17a2 solute carrier family 17, member 2 gene DOID:5082 liver cirrhosis ISO RGD:1318813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1308821 Slc17a2 solute carrier family 17, member 2 gene DOID:630 genetic disease ISO RGD:1318813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308821 Slc17a2 solute carrier family 17, member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:17253968|PMID:23695678|PMID:25741868|PMID:28971506|PMID:29449963|PMID:29952828|PMID:9827909 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318815 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:7240710 20130911 OMIM 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:14780 KBG syndrome ISO RGD:1318815 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:583 hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1318815 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:630 genetic disease ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36122374 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:8488 polyhydramnios ISO RGD:1318815 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:30244526|PMID:31680349 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:9000957 Hereditary Lymphedema III ISO RGD:1318815 D RGD:7240710 20190315 OMIM 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:9000957 Hereditary Lymphedema III ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III PMID:25741868|PMID:25741889|PMID:26333996|PMID:26780541|PMID:28492532|PMID:30244526|PMID:36122374 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318815 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:9004927 Stomatocytosis II ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1318815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:28619848|PMID:30187933|PMID:30244526|PMID:30655378|PMID:30887001|PMID:31091145|PMID:31624108|PMID:31680349|PMID:32981126|PMID:33027564 1308822 Piezo1 piezo-type mechanosensitive ion channel component 1 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25741868|PMID:28492532 1308823 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1308823 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1308823 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:2351 iron metabolism disease ISO RGD:1601843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632513 1308823 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1601843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308823 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601843 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1308823 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308825 Psmc6 proteasome 26S subunit, ATPase 6 gene DOID:630 genetic disease ISO RGD:1318819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308827 Sephs2 selenophosphate synthetase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1318823 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:decreased expression:colorectum (human) 1308827 Sephs2 selenophosphate synthetase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1318823 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:decreased expression:colorectum (human) 1308827 Sephs2 selenophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:1318823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0050795 cone dystrophy ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:7240710 20130221 OMIM 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE PMID:18781183|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606233 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:7240710 20130221 OMIM 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:26219881|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31319225|PMID:31638560|PMID:32581362|PMID:9536098 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:1059 intellectual disability ISO RGD:1606233 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1606233 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:12849 autistic disorder ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:255 hemangioma ISO RGD:1606233 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868|PMID:28492532 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362|PMID:9536098 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:630 genetic disease ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27480077|PMID:28492532 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1606233 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 1308828 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1318826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:10699052|PMID:11854167|PMID:15505393|PMID:16602100|PMID:17622945|PMID:25741868|PMID:28302372|PMID:28492532|PMID:8900227 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:10759157|PMID:25204480 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:7240710 20130221 OMIM 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10066389|PMID:10371528|PMID:10384381|PMID:10649503|PMID:10699052|PMID:10960496|PMID:11015709|PMID:11024031|PMID:11058907|PMID:11073722|PMID:11174631|PMID:11508549|PMID:11825066|PMID:11854167|PMID:12199454|PMID:12210585|PMID:12473778|PMID:12872844|PMID:12948740|PMID:14691600|PMID:14707522|PMID:15248096|PMID:15318278|PMID:15505393|PMID:15505400|PMID:15573311|PMID:15954035|PMID:16183314|PMID:16199547|PMID:16377226|PMID:16466958|PMID:16488172|PMID:16602100|PMID:16641220|PMID:17188916|PMID:17478444|PMID:17576681|PMID:17622945|PMID:17642054|PMID:17661081|PMID:18285246|PMID:18304851|PMID:18411069|PMID:18459892|PMID:18683078|PMID:18775954|PMID:18926513|PMID:19167251|PMID:19433275|PMID:19433437|PMID:19486177|PMID:1951469|PMID:19630565|PMID:20084589|PMID:20514322|PMID:20629163|PMID:20732827|PMID:20836999|PMID:20960650|PMID:20978942|PMID:21031586|PMID:21176883|PMID:21228398|PMID:21811973|PMID:21912879|PMID:22106832|PMID:22231382|PMID:22728054|PMID:23104440|PMID:23225040|PMID:23395213|PMID:23884036|PMID:24332224|PMID:24795062|PMID:24973495|PMID:25087612|PMID:25190159|PMID:25204480|PMID:25255367|PMID:25256449|PMID:25590979|PMID:25735478|PMID:25741868|PMID:25762492|PMID:25863083|PMID:26071121|PMID:26316201|PMID:26589311|PMID:26593172|PMID:26633542|PMID:26656312|PMID:26847429|PMID:27243974|PMID:27250579|PMID:27351573|PMID:27397597|PMID:27476540|PMID:27629047|PMID:27672653|PMID:27896087|PMID:28062662|PMID:28143689|PMID:28302372|PMID:28352331|PMID:28389991|PMID:28411331|PMID:28438223|PMID:28492532|PMID:28781846|PMID:28794906|PMID:28991257|PMID:29086383|PMID:29201125|PMID:29292490|PMID:29419857|PMID:29665094|PMID:30203563|PMID:30217722|PMID:30298489|PMID:30512148|PMID:30570710|PMID:30838298|PMID:31062211|PMID:31130284|PMID:31302874|PMID:31319225|PMID:31491587|PMID:31536184|PMID:31589614|PMID:31788423|PMID:31952437|PMID:32005694|PMID:32240488|PMID:32508882|PMID:32778825|PMID:32992790|PMID:33064266|PMID:33116287|PMID:33123633|PMID:33138774|PMID:33728242|PMID:34207159|PMID:34258142|PMID:34306040|PMID:34344405|PMID:34394177|PMID:34504725|PMID:35281663|PMID:6377226|PMID:7795610|PMID:8541831|PMID:8900227|PMID:8900228|PMID:9266361|PMID:9536098|PMID:9600243|PMID:9711871|PMID:9856558|PMID:9881681 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318827 D RGD:13515124|PMID:28545977 20180409 RGD 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1318826 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:3413 alpha-mannosidosis ISO RGD:1318826 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:15505393|PMID:18459892|PMID:18775954|PMID:19433275|PMID:20732827|PMID:21912879|PMID:24332224|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:26071121|PMID:26847429|PMID:27397597|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31491587|PMID:31536184|PMID:32240488|PMID:32992790|PMID:35281663|PMID:8900227|PMID:9266361|PMID:9600243|PMID:9711871|PMID:9881681 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 1308829 Gcdh glutaryl-CoA dehydrogenase gene DOID:9009132 Glutaric Aciduria ISO RGD:1318826 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868|PMID:28492532 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISS RGD:1553062 D RGD:13592920 20180518 MouseDO OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:7240710 20140903 OMIM 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency PMID:16199547|PMID:17576681|PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25552653|PMID:25640679|PMID:25741868|PMID:25741892|PMID:26061759|PMID:26539891|PMID:27151179|PMID:27256614|PMID:28492532|PMID:29331171|PMID:29440775|PMID:30369941|PMID:30831263|PMID:31451716|PMID:31842146|PMID:33258288|PMID:33586140|PMID:9536098 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:3659 sialuria ISO RGD:1318828 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:630 genetic disease ISO RGD:1318828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532|PMID:31842146 1308830 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318829 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318829 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318829 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:3007 breast ductal carcinoma ISO RGD:1318829 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:630 genetic disease ISO RGD:1318829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318829 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308831 Creb3 cAMP responsive element binding protein 3 gene DOID:9870 galactosemia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308832 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:1059 intellectual disability ISO RGD:1318831 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308832 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:630 genetic disease ISO RGD:1318831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308832 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9007661 Dwarfism ISO RGD:1318831 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1308832 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1318831 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 1308833 Mbd3l2 methyl-CpG binding domain protein 3-like 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1601828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1308833 Mbd3l2 methyl-CpG binding domain protein 3-like 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1601828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060254 Robinow syndrome ISO RGD:1318833 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:29276006 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:7240710 20190315 OMIM 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:28492532 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1318833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1318833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1318833 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:1324 lung cancer ISO RGD:1318833 D RGD:153297750|PMID:29193083 20220721 RGD DNA:SNP:intron:rs1969253 (human) 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:630 genetic disease ISO RGD:1318833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308834 Dvl3 dishevelled segment polarity protein 3 gene DOID:9007661 Dwarfism ISO RGD:1318833 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Short stature 1308835 Gpc5 glypican 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1318835 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1308835 Gpc5 glypican 5 gene DOID:1184 nephrotic syndrome ISO RGD:1318835 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21441931 1308835 Gpc5 glypican 5 gene DOID:630 genetic disease ISO RGD:1318835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308835 Gpc5 glypican 5 gene DOID:9001542 Albuminuria ISO RGD:1318835 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21441931 1308836 Pced1a PC-esterase domain containing 1A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1308836 Pced1a PC-esterase domain containing 1A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1308836 Pced1a PC-esterase domain containing 1A gene DOID:630 genetic disease ISO RGD:1318837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308837 Cldn6 claudin 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1308837 Cldn6 claudin 6 gene DOID:1826 epilepsy ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1308837 Cldn6 claudin 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308837 Cldn6 claudin 6 gene DOID:630 genetic disease ISO RGD:1318839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308838 Krt23 keratin 23 gene DOID:630 genetic disease ISO RGD:1318841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:2290486|PMID:16458425 20080314 RGD DNA:hypermethylation 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:2290490|PMID:15299075 20080314 RGD 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318843 D RGD:2290485|PMID:16500022 20080314 RGD 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318843 D RGD:2290489|PMID:16234815 20080314 RGD DNA:hypermethylation:promoter 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:630 genetic disease ISO RGD:1318843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23405127 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318843 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308839 Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318843 D RGD:2290489|PMID:16234815 20080314 RGD DNA:hypermethylation:promoter 1308840 Man2b2 mannosidase, alpha, class 2B, member 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318845 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:31775018 1308840 Man2b2 mannosidase, alpha, class 2B, member 2 gene DOID:630 genetic disease ISO RGD:1318845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308843 Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1318849 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1308843 Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1318849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308843 Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:1318849 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism 1308843 Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:7240710 20140911 OMIM 1308843 Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 PMID:16530710|PMID:23161670|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29263414 1308844 Cpne4 copine 4 gene DOID:630 genetic disease ISO RGD:1318850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308844 Cpne4 copine 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318850 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1308844 Cpne4 copine 4 gene DOID:9270 alkaptonuria ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318851 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:0080942 anauxetic dysplasia ISO RGD:1318851 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318851 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318851 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:3068 glioblastoma ISO RGD:1318851 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20127710 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:630 genetic disease ISO RGD:1318851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9002928 Colonic Neoplasms ISO RGD:1318851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17443689 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318851 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318851 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20127710 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308845 Reck reversion-inducing-cysteine-rich protein with kazal motifs gene DOID:9870 galactosemia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1318854 D RGD:35316076|PMID:22492852 20200708 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318853 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1318853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:11476 osteoporosis ISS RGD:1318854 D RGD:13592920 20180518 MouseDO OMIM:166710 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:13272 Klebsiella pneumonia ISO RGD:1318854 D RGD:36049798|PMID:20864681 20200721 RGD mRNA:increased expression:lung (mouse) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1318854 D RGD:35316077|PMID:22729155 20200708 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:2841 asthma ISO RGD:1318853 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:2841 asthma ISO RGD:1318853 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 PMID:17503328 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:2841 asthma susceptibility ISO RGD:1318853 D RGD:7240710 20190502 OMIM 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (human) PMID:21278795|REF_RGD_ID:36049796 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:399 tuberculosis ISO RGD:1318853 D RGD:36049800|PMID:19535630 20200721 RGD mRNA, protein:increased expression:sputum (human) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:5052 melioidosis ISO RGD:1318853 D RGD:36049801|PMID:19114913 20200721 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:630 genetic disease ISO RGD:1318853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:874 bacterial pneumonia ISO RGD:1318854 D RGD:34888234|PMID:28120642 20200706 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:874 bacterial pneumonia ISO RGD:1318854 D RGD:36049799|PMID:20439918 20200721 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9000109 Haemophilus Infections severity ISO RGD:1318854 D RGD:11527046|PMID:25585690 20200706 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9002786 Surgical Wound Infection ISO RGD:1318853 D RGD:34888232|PMID:28214365 20200706 RGD associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9002827 Porcine Postweaning Multisystemic Wasting Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:14200541 D RGD:9068941 20200723 RGD PMID:27832756|REF_RGD_ID:34888235 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1318853 D RGD:36049796|PMID:21278795 20200721 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1318853 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25780291 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318854 D RGD:36049795|PMID:21577093 20200721 RGD mRNA, protein:increased expression:lung (mouse) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9005930 Endotoxemia ISO RGD:1318853 D RGD:36049802|PMID:17982103 20200721 RGD mRNA, protein:increased expression:blood (human) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1318854 D RGD:34888231|PMID:28713897 20200706 RGD associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse) 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:1318854 D RGD:36049803|PMID:16917541 20200721 RGD associated with Sepsis 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:1318854 D RGD:34888230|PMID:28954388 20200706 RGD 1308846 Irak3 interleukin-1 receptor-associated kinase 3 gene DOID:9744 type 1 diabetes mellitus ISS RGD:1318854 D RGD:13592920 20180518 MouseDO OMIM:222100 1308847 Rspry1 ring finger and SPRY domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308847 Rspry1 ring finger and SPRY domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308847 Rspry1 ring finger and SPRY domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308847 Rspry1 ring finger and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1606482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308847 Rspry1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:7240710 20160120 OMIM 1308847 Rspry1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type PMID:25741868|PMID:26365341 1308848 Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308848 Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308848 Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308848 Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318857 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:18048336|PMID:25526675 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:7240710 20130221 OMIM 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11153648|PMID:11470705|PMID:11675386|PMID:11812441|PMID:12860821|PMID:14991316|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22669287|PMID:22736946|PMID:22815624|PMID:2336278|PMID:24033266|PMID:25170858|PMID:25587058|PMID:25741868|PMID:25820994|PMID:27627638|PMID:28393863|PMID:28492532|PMID:29847639|PMID:302784|PMID:30718709|PMID:32232344 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:11830 myopia ISO RGD:1318857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:630 genetic disease ISO RGD:1318857 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:8499 night blindness ISO RGD:1318857 D RGD:1599416|PMID:10617778 20070201 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:8501 fundus dystrophy ISO RGD:1318857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:24603341|PMID:28418496|PMID:28492532|PMID:29847639 1308849 Rdh5 retinol dehydrogenase 5 gene DOID:9005835 Congenital Abnormalities ISO RGD:1318857 D RGD:1599416|PMID:10617778 20070201 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 1308850 Tmem72 transmembrane protein 72 gene DOID:630 genetic disease ISO RGD:1354072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:25741868|PMID:28492532 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0080600 COVID-19 ISO RGD:1318860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:7240710 20130221 OMIM 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:10484776|PMID:11030416|PMID:11477177|PMID:12185464|PMID:14635115|PMID:14987413|PMID:15327387|PMID:16199547|PMID:16306119|PMID:17510093|PMID:17576681|PMID:18560364|PMID:19296982|PMID:20301742|PMID:24033266|PMID:24116921|PMID:25410531|PMID:25525159|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26484032|PMID:28492532|PMID:28553045|PMID:28569194|PMID:28893421|PMID:31685312|PMID:9536098 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:12679 nephrocalcinosis ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10484776|PMID:11030416|PMID:12185464|PMID:14635115|PMID:15327387|PMID:17576681|PMID:18560364|PMID:24033266|PMID:24116921|PMID:25644115|PMID:25741868|PMID:28492532|PMID:28893421|PMID:9536098 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:2977 primary hyperoxaluria ISO RGD:1318860 D RGD:1599318|PMID:10484776 20070130 RGD type II primary hyperoxaluria, OMIM:260000 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:2977 primary hyperoxaluria ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:11030416|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532|PMID:31685312 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:630 genetic disease ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308851 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:9870 galactosemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:0060224 atrial fibrillation ISO RGD:1318862 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1318862 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318862 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:1227 neutropenia ISO RGD:1318862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:2717 Bloom syndrome ISO RGD:1318862 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1318862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308852 Usp3 ubiquitin specific peptidase 3 gene DOID:9256 colorectal cancer ISO RGD:1318862 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308853 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1308853 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:0080600 COVID-19 ISO RGD:1602171 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308853 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:1602171 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308853 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:1602171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308854 Thumpd1 THUMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1318865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308854 Thumpd1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:7240710 20221221 OMIM 1308854 Thumpd1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 1308854 Thumpd1 THUMP domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 1308856 Rnf144b ring finger protein 144B gene DOID:630 genetic disease ISO RGD:1318869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308856 Rnf144b ring finger protein 144B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318869 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29724995 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:7240710 20170412 OMIM 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PMID:16199547|PMID:17576681|PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:2649490|PMID:26494905|PMID:27370603|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29055896|PMID:29358286|PMID:29454993|PMID:29610179|PMID:30758723|PMID:31019026|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:33936027|PMID:34510712|PMID:9536098 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 PMID:10932263|PMID:15557513|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:26633545|PMID:28143899|PMID:28492532 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:630 genetic disease ISO RGD:1318871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25652405|PMID:25741868|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:30758723 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:7240710 20190315 OMIM 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:26494905|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:29610179|PMID:30758723|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:34510712 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318871 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308857 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9538 multiple myeloma ISO RGD:1318871 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1308858 Slitrk1 SLIT and NTRK-like family, member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:7240710 20130221 OMIM 1308858 Slitrk1 SLIT and NTRK-like family, member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Trichotillomania PMID:20301778|PMID:25741868 1308858 Slitrk1 SLIT and NTRK-like family, member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318872 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308858 Slitrk1 SLIT and NTRK-like family, member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:7240710 20130731 OMIM 1308858 Slitrk1 SLIT and NTRK-like family, member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:17003809|PMID:17035247|PMID:18413575|PMID:19018236|PMID:20301778|PMID:20351724|PMID:22942103|PMID:23528612|PMID:23835198|PMID:23990902|PMID:25741868|PMID:27812321|PMID:28492532 1308858 Slitrk1 SLIT and NTRK-like family, member 1 gene DOID:630 genetic disease ISO RGD:1318872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1318874 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:7240710 20130221 OMIM 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:27634015|PMID:27913849|PMID:28095440|PMID:28492532|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195|PMID:33116287 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:13378 Kawasaki disease ISO RGD:1318874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446961 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318874 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:7148 rheumatoid arthritis ISO RGD:1318874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318874 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1642307|PMID:17562528 20100128 RGD mRNA:increased expression:left ventricle (rat) 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318874 D RGD:2316189|PMID:19180478 20100128 RGD DNA:snp:promoter:rs13277113 (human) 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28492532|PMID:29663334|PMID:30191644|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195 1308859 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9351 diabetes mellitus ISO RGD:1318874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31670388|PMID:32313195 1308860 Pdzrn4 PDZ domain containing RING finger 4 gene DOID:10325 silicosis ISO RGD:1318876 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 1308860 Pdzrn4 PDZ domain containing RING finger 4 gene DOID:630 genetic disease ISO RGD:1318876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308861 Ppp1r27 protein phosphatase 1, regulatory subunit 27 gene DOID:630 genetic disease ISO RGD:1346366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308862 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1308862 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:1062 Fanconi syndrome ISO RGD:1318878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1308862 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:630 genetic disease ISO RGD:1318878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308863 Adhfe1 alcohol dehydrogenase, iron containing, 1 gene DOID:630 genetic disease ISO RGD:1318880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308863 Adhfe1 alcohol dehydrogenase, iron containing, 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308864 Fus Fus RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:28492532 1308864 Fus Fus RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:7240710 20130425 OMIM 1308864 Fus Fus RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:12840784|PMID:12858291|PMID:16199547|PMID:17576681|PMID:19251627|PMID:19251628|PMID:19450904|PMID:19741215|PMID:19741216|PMID:19861302|PMID:20018407|PMID:20124201|PMID:20138404|PMID:20142531|PMID:20232451|PMID:20385912|PMID:20472325|PMID:20544928|PMID:20577002|PMID:20579074|PMID:20598774|PMID:20606625|PMID:20621307|PMID:20660363|PMID:20668259|PMID:20668261|PMID:20674093|PMID:20699327|PMID:21158017|PMID:21261515|PMID:21280085|PMID:21487023|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21943958|PMID:21949354|PMID:21965298|PMID:22055719|PMID:22292843|PMID:22340366|PMID:22645277|PMID:22722621|PMID:22863194|PMID:22980027|PMID:23046859|PMID:23056579|PMID:23085990|PMID:23217123|PMID:23257289|PMID:23545117|PMID:23577159|PMID:23731953|PMID:23834335|PMID:23834483|PMID:23847048|PMID:23881933|PMID:24033266|PMID:24080306|PMID:24204307|PMID:24262168|PMID:24280224|PMID:24439481|PMID:24575823|PMID:24738488|PMID:24899262|PMID:24908169|PMID:25173930|PMID:25274782|PMID:25289647|PMID:25324524|PMID:25382069|PMID:25457557|PMID:25525159|PMID:25558820|PMID:25585530|PMID:25625564|PMID:25631824|PMID:25681989|PMID:25741868|PMID:26251528|PMID:26452761|PMID:26467025|PMID:26500017|PMID:26601740|PMID:26725112|PMID:26788680|PMID:26795035|PMID:27123482|PMID:27604643|PMID:28273913|PMID:28288521|PMID:28429524|PMID:28430856|PMID:28492532|PMID:28642336|PMID:29525178|PMID:29547565|PMID:30279455|PMID:30349096|PMID:30455313|PMID:30507891|PMID:30879340|PMID:31682085|PMID:31692161|PMID:32038460|PMID:32116048|PMID:32638105|PMID:32951934|PMID:33082139|PMID:33159016|PMID:9536098 1308864 Fus Fus RNA binding protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:1318882 D RGD:9685712|PMID:19251628 20150122 RGD DNA:mutations:cds: 1308864 Fus Fus RNA binding protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318882 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1308864 Fus Fus RNA binding protein gene DOID:0111431 essential tremor 4 ISO RGD:1318882 D RGD:7240710 20140903 OMIM 1308864 Fus Fus RNA binding protein gene DOID:0111431 essential tremor 4 ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 4 PMID:19741215|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22863194|PMID:23834483|PMID:25382069|PMID:25558820|PMID:25585530|PMID:25741868|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:30279455|PMID:32638105 1308864 Fus Fus RNA binding protein gene DOID:1115 sarcoma ISO RGD:1318882 D RGD:5509905|PMID:21677541 20111111 RGD 1308864 Fus Fus RNA binding protein gene DOID:1115 sarcoma ISO RGD:1318882 D RGD:5509906|PMID:21658743 20111111 RGD 1308864 Fus Fus RNA binding protein gene DOID:12377 spinal muscular atrophy ISO RGD:1318882 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 1308864 Fus Fus RNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1318882 D RGD:5509901|PMID:21908872 20111110 RGD 1308864 Fus Fus RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:28478440|PMID:29419416|PMID:29434138|PMID:30455313 1308864 Fus Fus RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:5509900|PMID:22055719 20111110 RGD 1308864 Fus Fus RNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318882 D RGD:9685710|PMID:21408206 20150122 RGD 1308864 Fus Fus RNA binding protein gene DOID:3382 liposarcoma ISO RGD:1318882 D RGD:5509913|PMID:20332486 20111111 RGD 1308864 Fus Fus RNA binding protein gene DOID:5363 myxoid liposarcoma ISO RGD:1318882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7503811|PMID:8510758 1308864 Fus Fus RNA binding protein gene DOID:543 dystonia ISO RGD:1318882 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 1308864 Fus Fus RNA binding protein gene DOID:630 genetic disease ISO RGD:1318882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19741215|PMID:19741216|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:20385912|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22722621|PMID:22863194|PMID:23834483|PMID:25382069|PMID:25558820|PMID:25585530|PMID:25631824|PMID:25741868|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:29547565|PMID:30270202|PMID:30279455|PMID:32638105 1308864 Fus Fus RNA binding protein gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1318882 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:19251627|PMID:19450904|PMID:20579074|PMID:20606625|PMID:20668261|PMID:21280085|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21949354|PMID:22980027|PMID:23056579|PMID:23085990|PMID:23881933|PMID:24899262|PMID:25173930|PMID:25625564|PMID:25741868|PMID:26251528|PMID:26467025|PMID:27123482|PMID:28492532 1308864 Fus Fus RNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1318882 D RGD:5509902|PMID:21847626 20111110 RGD 1308864 Fus Fus RNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1318882 D RGD:9685710|PMID:21408206 20150122 RGD 1308864 Fus Fus RNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1318882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:22863194|PMID:25382069|PMID:25558820|PMID:25741868|PMID:26467025|PMID:28430856|PMID:28492532|PMID:30279455|PMID:32638105 1308865 Gpatch2 G patch domain containing 2 gene DOID:0050439 Usher syndrome ISO RGD:1318884 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1308865 Gpatch2 G patch domain containing 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1318884 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1308865 Gpatch2 G patch domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318884 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308865 Gpatch2 G patch domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1318884 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1308865 Gpatch2 G patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1318884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308865 Gpatch2 G patch domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318884 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308866 Map7 microtubule-associated protein 7 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1318886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1308866 Map7 microtubule-associated protein 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318886 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1308866 Map7 microtubule-associated protein 7 gene DOID:630 genetic disease ISO RGD:1318886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308867 Arpc5l actin related protein 2/3 complex, subunit 5-like gene DOID:630 genetic disease ISO RGD:1318888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308868 Txndc17 thioredoxin domain containing 17 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1318890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 1308868 Txndc17 thioredoxin domain containing 17 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1318890 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1308868 Txndc17 thioredoxin domain containing 17 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1318890 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1308868 Txndc17 thioredoxin domain containing 17 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1318890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1308868 Txndc17 thioredoxin domain containing 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318890 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1308868 Txndc17 thioredoxin domain containing 17 gene DOID:630 genetic disease ISO RGD:1318890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308869 Akap10 A-kinase anchoring protein 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:70080 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1308869 Akap10 A-kinase anchoring protein 10 gene DOID:12849 autistic disorder ISO RGD:70080 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308869 Akap10 A-kinase anchoring protein 10 gene DOID:630 genetic disease ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308869 Akap10 A-kinase anchoring protein 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1308869 Akap10 A-kinase anchoring protein 10 gene DOID:9007 sudden infant death syndrome ISO RGD:70080 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 1308870 Fhip2b FHF complex subunit HOOK interacting protein 2B gene DOID:630 genetic disease ISO RGD:1318892 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308870 Fhip2b FHF complex subunit HOOK interacting protein 2B gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1308871 Eif3c eukaryotic translation initiation factor 3, subunit C gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1318894 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:31690835 1308871 Eif3c eukaryotic translation initiation factor 3, subunit C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318894 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1308871 Eif3c eukaryotic translation initiation factor 3, subunit C gene DOID:5419 schizophrenia ISO RGD:1318894 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308871 Eif3c eukaryotic translation initiation factor 3, subunit C gene DOID:630 genetic disease ISO RGD:1318894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308871 Eif3c eukaryotic translation initiation factor 3, subunit C gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1318894 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:0050569 Seckel syndrome ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:28492532 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:7240710 20130221 OMIM 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 PMID:11781686|PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:0080600 COVID-19 ISO RGD:1317354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:1059 intellectual disability ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:10907 microcephaly ISO RGD:1317354 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:4905 pancreatic carcinoma ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:28492532|PMID:9811458 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:630 genetic disease ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32379725|PMID:9536098 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:7240710 20131030 OMIM 1308872 Rbbp8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jawad syndrome PMID:18071751|PMID:21998596|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532|PMID:32379725 1308873 Ano3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:7240710 20140911 OMIM 1308873 Ano3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 24 PMID:11009204|PMID:23200863|PMID:25741868|PMID:27666935|PMID:28492532|PMID:33388357 1308873 Ano3 anoctamin 3 gene DOID:1059 intellectual disability ISO RGD:1318896 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308873 Ano3 anoctamin 3 gene DOID:543 dystonia ISO RGD:1318896 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1308873 Ano3 anoctamin 3 gene DOID:543 dystonia ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:27666935|PMID:28492532|PMID:29449182|PMID:30502610|PMID:31053532|PMID:9536098 1308873 Ano3 anoctamin 3 gene DOID:630 genetic disease ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308873 Ano3 anoctamin 3 gene DOID:9002211 Hyperalgesia IMP D RGD:9681745|PMID:23872594 20141205 RGD 1308873 Ano3 anoctamin 3 gene DOID:9007956 Febrile Seizures ISO RGD:1318896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344690 1308874 Apmap adipocyte plasma membrane associated protein gene DOID:630 genetic disease ISO RGD:1318897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308874 Apmap adipocyte plasma membrane associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1318899 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:10283 prostate cancer ISO RGD:1318899 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1059 intellectual disability ISO RGD:1318899 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11372 megacolon ISO RGD:1318899 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12583 velocardiofacial syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12849 autistic disorder ISO RGD:1318899 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1826 epilepsy ISO RGD:1318899 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:2213 hemorrhagic disease ISO RGD:1318899 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:5419 schizophrenia IEA D RGD:1331525|PMID:15118671 19990101 GAD 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:5419 schizophrenia ISO RGD:1318899 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1318899 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:630 genetic disease ISO RGD:1318899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9003871 Venous Thrombosis ISO RGD:1318899 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318899 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308875 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9007661 Dwarfism ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1308876 Eva1b eva-1 homolog B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602695 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308876 Eva1b eva-1 homolog B gene DOID:630 genetic disease ISO RGD:1602695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308877 Trmt6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1308877 Trmt6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1308877 Trmt6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1604623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308879 Amdhd1 amidohydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0080690 RASopathy ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0111971 immunodeficiency 18 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0111972 immunodeficiency 19 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:0111973 immunodeficiency 17 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1308880 Tbcel tubulin folding cofactor E-like gene DOID:5419 schizophrenia ISO RGD:1606678 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308880 Tbcel tubulin folding cofactor E-like gene DOID:630 genetic disease ISO RGD:1606678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308880 Tbcel tubulin folding cofactor E-like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606678 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308880 Tbcel tubulin folding cofactor E-like gene DOID:9007661 Dwarfism ISO RGD:1606678 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308881 Ghdc GH3 domain containing gene DOID:630 genetic disease ISO RGD:1603379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318906 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1318906 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:28575648 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1318906 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:17496163|PMID:28575648 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:7240710 20190315 OMIM 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 PMID:17496163|PMID:25741868|PMID:28492532|PMID:28575648 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:13580 cholestasis ISO RGD:1318906 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:630 genetic disease ISO RGD:1318906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9005372 Inflammation ISO RGD:1318906 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318906 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 1308882 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318906 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29766219 1308884 Mcoln2 mucolipin TRP cation channel 2 gene DOID:630 genetic disease ISO RGD:1318909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308885 Trim41 tripartite motif-containing 41 gene DOID:630 genetic disease ISO RGD:1318911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308887 Osbpl6 oxysterol binding protein-like 6 gene DOID:630 genetic disease ISO RGD:1318914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308888 Dhx30 DExH-box helicase 30 gene DOID:12849 autistic disorder ISO RGD:1318916 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autism PMID:28327206|PMID:29100085|PMID:32581362 1308888 Dhx30 DExH-box helicase 30 gene DOID:1826 epilepsy ISO RGD:1318916 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29100085 1308888 Dhx30 DExH-box helicase 30 gene DOID:630 genetic disease ISO RGD:1318916 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29100085 1308888 Dhx30 DExH-box helicase 30 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318916 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1308888 Dhx30 DExH-box helicase 30 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1308888 Dhx30 DExH-box helicase 30 gene DOID:9008086 Developmental Disabilities ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362 1308888 Dhx30 DExH-box helicase 30 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1318916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 1308888 Dhx30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:7240710 20190315 OMIM 1308888 Dhx30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language PMID:25741868|PMID:28327206|PMID:28492532|PMID:29100085|PMID:32581362|PMID:34020708 1308889 Lama2 laminin subunit alpha 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318918 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 1308889 Lama2 laminin subunit alpha 2 gene DOID:0050741 alcohol dependence ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 1308889 Lama2 laminin subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1318918 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308889 Lama2 laminin subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:1318918 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:20207543|PMID:25741868|PMID:28492532|PMID:29706646 1308889 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:7240710 20130221 OMIM 1308889 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 1308889 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 1308889 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A treatment ISO RGD:1318919 D RGD:13605609|PMID:28714989 20180608 RGD 1308889 Lama2 laminin subunit alpha 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 1308889 Lama2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532 1308889 Lama2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532|PMID:31066047|PMID:31395899|PMID:33442022|PMID:34281576 1308889 Lama2 laminin subunit alpha 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318918 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 1308889 Lama2 laminin subunit alpha 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1308889 Lama2 laminin subunit alpha 2 gene DOID:11830 myopia ISO RGD:1318918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 1308889 Lama2 laminin subunit alpha 2 gene DOID:11830 myopia susceptibility ISO RGD:1318918 D RGD:13605610|PMID:27611182 20180608 RGD DNA:SNP: :rs12205363(human) 1308889 Lama2 laminin subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 1308889 Lama2 laminin subunit alpha 2 gene DOID:1574 alcohol use disorder ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 1308889 Lama2 laminin subunit alpha 2 gene DOID:1591 renovascular hypertension IEP D RGD:1600206|PMID:10773239 20070302 RGD mRNA:decreased expression:heart 1308889 Lama2 laminin subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1318918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 1308889 Lama2 laminin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10611118|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21953594|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:25214167|PMID:25525159|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:28492532|PMID:29376585|PMID:30055037|PMID:30827497|PMID:32266982|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:34528292|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 1308889 Lama2 laminin subunit alpha 2 gene DOID:9003760 Myalgia ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myalgia PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 1308889 Lama2 laminin subunit alpha 2 gene DOID:9004547 Thyroid Neoplasms IEP D RGD:1600207|PMID:10335943 20070302 RGD 1308889 Lama2 laminin subunit alpha 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1318918 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Hypotonia 1308889 Lama2 laminin subunit alpha 2 gene DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:10611118|PMID:10852549|PMID:11071490|PMID:12100448|PMID:12552556|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21896784|PMID:21953594|PMID:22166137|PMID:22426012|PMID:23326386|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25525159|PMID:25587058|PMID:25741868|PMID:26467025|PMID:26607181|PMID:27159402|PMID:27353517|PMID:27854218|PMID:27896284|PMID:28182637|PMID:28492532|PMID:28688748|PMID:29706646|PMID:30055037|PMID:30301903|PMID:30827497|PMID:31066047|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32904964|PMID:33442022|PMID:34281576|PMID:34528292|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 1308889 Lama2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:7240710 20190315 OMIM 1308889 Lama2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:10611118|PMID:11071490|PMID:11369186|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22426012|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25332755|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26607181|PMID:26962340|PMID:27159402|PMID:27353517|PMID:27708273|PMID:27854218|PMID:27932089|PMID:28492532|PMID:28554332|PMID:28688748|PMID:29212164|PMID:29376585|PMID:29706646|PMID:29773157|PMID:30055037|PMID:30373198|PMID:30827497|PMID:31309178|PMID:31983221|PMID:32266982|PMID:32444167|PMID:32827036|PMID:32904964|PMID:33077954|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 1308889 Lama2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy ISO RGD:1318918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18074402|PMID:22906800 1308889 Lama2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868|PMID:28492532 1308889 Lama2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318918 D RGD:1600200|PMID:7550355 20070302 RGD DNA:splice-site mutation, nonsense mutation 1308891 Ephx4 epoxide hydrolase 4 gene DOID:630 genetic disease ISO RGD:1318921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:0050753 cerebellar ataxia ISO RGD:1318922 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:7240710 20140903 OMIM 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 PMID:25741868 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1318922 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1318922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:1318922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:9000918 Disease Progression ISO RGD:1318922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1318922 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1308892 Nop56 NOP56 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1318922 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1308893 Dcun1d3 defective in cullin neddylation 1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308894 Ube2e3 ubiquitin-conjugating enzyme E2E 3 gene DOID:630 genetic disease ISO RGD:1318925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318927 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1318927 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1318927 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISS RGD:1318928 D RGD:13592920 20220602 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:1358756|PMID:12966029 19990101 RGD 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:7240710 20130425 OMIM 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:12966029|PMID:15661757|PMID:16199547|PMID:17576681|PMID:17878207|PMID:18414213|PMID:19067344|PMID:21727005|PMID:24709677|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28454995|PMID:28492532|PMID:28556411|PMID:9536098 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:7240710 20170802 OMIM 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 PMID:17436019|PMID:17878207|PMID:18414213|PMID:19067344|PMID:19299310|PMID:25741868|PMID:26467025|PMID:28492532 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318927 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISS RGD:1318928 D RGD:13592920 20180518 MouseDO OMIM:158900 | OMIM:158901 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:670 amphetamine abuse ISO RGD:1318927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1318927 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1318927 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1318927 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17878207|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 1308895 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1318928 D RGD:1358757|PMID:11381262 19990101 RGD 1308896 Dbx1 developing brain homeobox 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1605302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1308896 Dbx1 developing brain homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1605302 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308896 Dbx1 developing brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1605302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308898 Slc26a8 solute carrier family 26 member 8 gene DOID:0050553 JMP syndrome ISO RGD:1347727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1308898 Slc26a8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:7240710 20130731 OMIM 1308898 Slc26a8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 3 PMID:23582645|PMID:25741868|PMID:28492532|PMID:34923715 1308898 Slc26a8 solute carrier family 26 member 8 gene DOID:5419 schizophrenia ISO RGD:1347727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1308898 Slc26a8 solute carrier family 26 member 8 gene DOID:630 genetic disease ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308899 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1318933 D RGD:6771190|PMID:15913795 20120717 RGD DNA:SNPs:intron: A>G, C>G (human) 1308899 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1318933 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1308899 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1318933 D RGD:6771190|PMID:15913795 20120717 RGD DNA:SNP:intron: C>T (human) 1308899 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 gene DOID:630 genetic disease ISO RGD:1318933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308899 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 gene DOID:8398 osteoarthritis ISO RGD:1318933 D RGD:6771189|PMID:18790654 20120717 RGD DNA:missense mutation:cds: (rs4747096) (human) 1308900 Alg5 ALG5, dolichyl-phosphate beta-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308900 Alg5 ALG5, dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:7240710 20221012 OMIM 1308900 Alg5 ALG5, dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 7 PMID:35896117 1308901 Lin37 lin-37 DREAM MuvB core complex component gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1308901 Lin37 lin-37 DREAM MuvB core complex component gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308901 Lin37 lin-37 DREAM MuvB core complex component gene DOID:543 dystonia ISO RGD:1603391 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1308901 Lin37 lin-37 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1603391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0070048 GAND syndrome ISO RGD:1603540 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603540 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:630 genetic disease ISO RGD:1603540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:9685169|PMID:23595987 20141219 RGD 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603540 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus IMP D RGD:9685169|PMID:23595987 20141219 RGD 1308903 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus treatment IMP D RGD:9685172|PMID:19706791 20141219 RGD 1308904 Fam110a family with sequence similarity 110, member A gene DOID:630 genetic disease ISO RGD:1318939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308905 Rab18 RAB18, member RAS oncogene family gene DOID:0060237 Warburg micro syndrome ISO RGD:1318941 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1308905 Rab18 RAB18, member RAS oncogene family gene DOID:0060237 Warburg micro syndrome ISO RGD:1318941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:28492532 1308905 Rab18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:7240710 20140903 OMIM 1308905 Rab18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 3 PMID:21473985|PMID:23420520|PMID:25741868|PMID:28492532|PMID:29300443 1308905 Rab18 RAB18, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318941 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308906 Htra2 HtrA serine peptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1318944 D RGD:10402865|PMID:22976834 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:7240710 20190315 OMIM 1308906 Htra2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:25531304|PMID:25741868|PMID:27208207|PMID:27696117|PMID:28492532|PMID:9536098 1308906 Htra2 HtrA serine peptidase 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1318943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1308906 Htra2 HtrA serine peptidase 2 gene DOID:0080855 Parkinsonism ISO RGD:1318943 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26558463 1308906 Htra2 HtrA serine peptidase 2 gene DOID:10283 prostate cancer ISO RGD:1318943 D RGD:5688749|PMID:17207090 20120305 RGD mRNA, protein:increased expression:prostate (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:10534 stomach cancer ISO RGD:1318943 D RGD:5688748|PMID:12887511 20120305 RGD protein:increased expression:gastric mucosa (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318943 D RGD:5688722|PMID:21163861 20120302 RGD protein:increased activity:frontal cortex (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:11088 asphyxia neonatorum treatment IEP D RGD:10402931|PMID:20704803 20151103 RGD protein:increased expression:kidney: 1308906 Htra2 HtrA serine peptidase 2 gene DOID:11383 cryptorchidism IEP D RGD:10402928|PMID:16563141 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:12858 Huntington's disease ISO RGD:1318944 D RGD:5688723|PMID:18662332 20120302 RGD protein:increased expression:striatal neuron (mouse) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:1380 endometrial cancer ISO RGD:1318943 D RGD:5688747|PMID:19424634 20120305 RGD protein:decreased expression:endometrium (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:5688381|PMID:15961413 20120229 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:5688393|PMID:18401856 20120301 RGD DNA:missense mutation:cds:p.R404W (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:5688395|PMID:21701785 20120301 RGD DNA:missense mutation:cds:p.P143A (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:5688714|PMID:21338583 20120301 RGD DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:5688367|PMID:15509788 20120229 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:5688392|PMID:14534547 20120301 RGD DNA:missense mutation:cds:p.S276C (mouse) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1318943 D RGD:5688394|PMID:18364387 20120301 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:1824 status epilepticus IEP D RGD:5688370|PMID:21132459 20120229 RGD protein:increased expression:hippocampus CA1, neuron, cytoplasm (rat) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1318943 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15306124 1308906 Htra2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia treatment IMP D RGD:10402932|PMID:19462455 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease ISO RGD:1318944 D RGD:10402865|PMID:22976834 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease treatment ISO RGD:1318943 D RGD:10402865|PMID:22976834 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:2394 ovarian cancer ISO RGD:1318943 D RGD:5688746|PMID:18241672 20120305 RGD mRNA:decreased expression:ovary (human) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1318943 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1308906 Htra2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction IEP D RGD:2314385|PMID:16978742 20120229 RGD protein:increased expression:brain, cytosol (rat) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318944 D RGD:5688372|PMID:15306124 20120229 RGD protein:increased expression:brain, cytosol (mouse) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:543 dystonia ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1308906 Htra2 HtrA serine peptidase 2 gene DOID:630 genetic disease ISO RGD:1318943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9002644 Premature Aging ISO RGD:1318944 D RGD:10402865|PMID:22976834 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9002720 Splenomegaly ISO RGD:1318944 D RGD:10402865|PMID:22976834 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:7240710 20160629 OMIM 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18401856|PMID:18790661|PMID:19118185|PMID:21163861|PMID:21338583|PMID:21701785|PMID:25422467|PMID:25741868|PMID:28492532 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9004484 Sepsis treatment IMP D RGD:10402934|PMID:23557966 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9007456 Female Infertility ISO RGD:1318944 D RGD:10402865|PMID:22976834 20151103 RGD 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318944 D RGD:5688376|PMID:15611365 20120229 RGD protein:increased expression:myocardium, cytosol (mouse) 1308906 Htra2 HtrA serine peptidase 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1318943 D RGD:152977762|PMID:32486357 20220606 RGD protein:decreased expression:colorectal mucosa (human) 1308907 Gpatch2l G patch domain containing 2-like gene DOID:1059 intellectual disability ISO RGD:1318945 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1308907 Gpatch2l G patch domain containing 2-like gene DOID:630 genetic disease ISO RGD:1318945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308908 Ints1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:7240710 20191016 OMIM 1308908 Ints1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:28763441|PMID:30622326|PMID:31428919 1308908 Ints1 integrator complex subunit 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606801 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 1308908 Ints1 integrator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30622326 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318948 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1318948 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:630 genetic disease ISO RGD:1318948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1318948 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308910 Hint2 histidine triad nucleotide binding protein 2 gene DOID:9870 galactosemia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308911 Meox1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:7240710 20130425 OMIM 1308911 Meox1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:23290072|PMID:24073994 1308911 Meox1 mesenchyme homeobox 1 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1318950 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1308911 Meox1 mesenchyme homeobox 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1308911 Meox1 mesenchyme homeobox 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318950 D RGD:11554173 20220809 CTD CTD Direct Evidence: therapeutic PMID:34837450 1308911 Meox1 mesenchyme homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318950 D RGD:11554173 20220809 CTD CTD Direct Evidence: therapeutic PMID:34837450 1308911 Meox1 mesenchyme homeobox 1 gene DOID:630 genetic disease ISO RGD:1318950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:0080600 COVID-19 ISO RGD:1318953 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:3883 Lynch syndrome ISO RGD:1318953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318953 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:630 genetic disease ISO RGD:1318953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:7240710 20221214 OMIM 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 13 PMID:34611029 1308913 Zfp36l2 zinc finger protein 36, C3H type-like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318953 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1308914 Sema5b semaphorin 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1308914 Sema5b semaphorin 5B gene DOID:630 genetic disease ISO RGD:1318955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308914 Sema5b semaphorin 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318955 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1308914 Sema5b semaphorin 5B gene DOID:9270 alkaptonuria ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1308915 Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1308915 Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit gene DOID:1826 epilepsy ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1308915 Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308915 Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1308915 Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit gene DOID:630 genetic disease ISO RGD:1605347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308916 Csrnp2 cysteine and serine rich nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1318958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308917 Jkamp JNK1/MAPK8-associated membrane protein gene DOID:630 genetic disease ISO RGD:1318960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308918 Abraxas2 abraxas 2, BRISC complex subunit gene DOID:630 genetic disease ISO RGD:1318962 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308919 Lrrc42 leucine rich repeat containing 42 gene DOID:630 genetic disease ISO RGD:1604548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308920 Col19a1 collagen type XIX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1318965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 1308920 Col19a1 collagen type XIX alpha 1 chain gene DOID:14330 Parkinson's disease ISO RGD:1318965 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 1308920 Col19a1 collagen type XIX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1318965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308922 Gprin2 G protein regulated inducer of neurite outgrowth 2 gene DOID:5419 schizophrenia ISO RGD:1318969 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308922 Gprin2 G protein regulated inducer of neurite outgrowth 2 gene DOID:630 genetic disease ISO RGD:1318969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308923 Faap20 FA core complex associated protein 20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308923 Faap20 FA core complex associated protein 20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604208 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1308923 Faap20 FA core complex associated protein 20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1308923 Faap20 FA core complex associated protein 20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604208 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1308923 Faap20 FA core complex associated protein 20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604208 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1308923 Faap20 FA core complex associated protein 20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308923 Faap20 FA core complex associated protein 20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308923 Faap20 FA core complex associated protein 20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308923 Faap20 FA core complex associated protein 20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308923 Faap20 FA core complex associated protein 20 gene DOID:630 genetic disease ISO RGD:1604208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308923 Faap20 FA core complex associated protein 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604208 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308923 Faap20 FA core complex associated protein 20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1308923 Faap20 FA core complex associated protein 20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318972 D RGD:8554872 20201117 ClinVar ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy PMID:25645515|PMID:25741868|PMID:32576985 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318972 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25645515|PMID:25741868|PMID:32576985 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:1064 cystinosis ISO RGD:1318972 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis PMID:24385851 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:3613 Canavan disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318972 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 1308924 Tax1bp3 Tax1 binding protein 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1308925 Brd3 bromodomain containing 3 gene DOID:0050902 medulloblastoma ISO RGD:1318974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 1308925 Brd3 bromodomain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1308925 Brd3 bromodomain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1308925 Brd3 bromodomain containing 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1318974 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1308925 Brd3 bromodomain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1308925 Brd3 bromodomain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1308925 Brd3 bromodomain containing 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318974 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1308925 Brd3 bromodomain containing 3 gene DOID:3652 Leigh disease ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1308925 Brd3 bromodomain containing 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318974 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1308925 Brd3 bromodomain containing 3 gene DOID:630 genetic disease ISO RGD:1318974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1318976 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:10923 sickle cell anemia ISO RGD:1318976 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:12336 male infertility IAGP D RGD:1582485|PMID:12764197 20061110 RGD DNA:deletion:exon (rat) 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:12336 male infertility ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:36150389 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:12336 male infertility ISO RGD:1318977 D RGD:1582485|PMID:12764197 20110705 RGD 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:12849 autistic disorder ISO RGD:1318976 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1318976 D RGD:1582483|PMID:9782077 20061110 RGD 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1318976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318976 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:5419 schizophrenia ISO RGD:1318976 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:630 genetic disease ISO RGD:1318976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:8445 intestinal volvulus ISO RGD:1318976 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318976 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:7240710 20221102 OMIM 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 77 PMID:25741868|PMID:36150389 1308926 Fkbp6 FKBP prolyl isomerase family member 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1318976 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1318978 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:5419 schizophrenia ISO RGD:1318978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1318978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1318978 D RGD:7240710 20190315 OMIM 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1318978 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1318978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:25741868 1308927 Nprl2 NPR2-like, GATOR1 complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308928 Rbm19 RNA binding motif protein 19 gene DOID:630 genetic disease ISO RGD:1318980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308929 Fam168a family with sequence similarity 168, member A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1308929 Fam168a family with sequence similarity 168, member A gene DOID:1059 intellectual disability ISO RGD:1604050 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308929 Fam168a family with sequence similarity 168, member A gene DOID:630 genetic disease ISO RGD:1604050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308929 Fam168a family with sequence similarity 168, member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1604050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308929 Fam168a family with sequence similarity 168, member A gene DOID:9000918 Disease Progression ISO RGD:1604050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1308930 Ppp1r3g protein phosphatase 1, regulatory subunit 3G gene DOID:630 genetic disease ISO RGD:1346810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308931 Samd7 sterile alpha motif domain containing 7 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1308931 Samd7 sterile alpha motif domain containing 7 gene DOID:1062 Fanconi syndrome ISO RGD:1318984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1308931 Samd7 sterile alpha motif domain containing 7 gene DOID:630 genetic disease ISO RGD:1318984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1318986 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318986 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:630 genetic disease ISO RGD:1318986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1318986 D RGD:153344629|PMID:34974791 20220906 RGD human cells in mouse model 1308932 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9538 multiple myeloma ISO RGD:1318986 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 1308935 Gpatch1 G patch domain containing 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308935 Gpatch1 G patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1318991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308935 Gpatch1 G patch domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1318991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 1308936 Anapc10 anaphase promoting complex subunit 10 gene DOID:630 genetic disease ISO RGD:1318993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318995 D RGD:2290417|PMID:15928670 20091209 RGD 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:2671 transitional cell carcinoma ISO RGD:1318995 D RGD:2314950|PMID:9751409 20091209 RGD 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:630 genetic disease ISO RGD:1318995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318995 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:2314952|PMID:19595018 20091209 RGD mRNA:increased expression:lung 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318995 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1308937 Mmp15 matrix metallopeptidase 15 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318996 D RGD:2314949|PMID:15895410 20091209 RGD mRNA:increased expression:mammary gland 1308938 Tnpo3 transportin 3 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 1308938 Tnpo3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:7240710 20140723 OMIM 1308938 Tnpo3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:11222786|PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:31953240|PMID:9536098 1308938 Tnpo3 transportin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318997 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308938 Tnpo3 transportin 3 gene DOID:630 genetic disease ISO RGD:1318997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308939 Tmem60 transmembrane protein 60 gene DOID:0080600 COVID-19 ISO RGD:1318999 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1308939 Tmem60 transmembrane protein 60 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318999 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308939 Tmem60 transmembrane protein 60 gene DOID:630 genetic disease ISO RGD:1318999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308939 Tmem60 transmembrane protein 60 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1318999 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1308940 Tmod4 tropomodulin 4 gene DOID:0080422 Dravet syndrome ISO RGD:1319001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1308940 Tmod4 tropomodulin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308940 Tmod4 tropomodulin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308940 Tmod4 tropomodulin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308940 Tmod4 tropomodulin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308940 Tmod4 tropomodulin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308940 Tmod4 tropomodulin 4 gene DOID:630 genetic disease ISO RGD:1319001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308940 Tmod4 tropomodulin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319001 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:7240710 20130425 OMIM 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:17576681|PMID:18450588|PMID:25741868|PMID:28492532|PMID:9536098 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1319003 D RGD:1598962|PMID:11527955 20070108 RGD 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1319003 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:2742 auditory system disease ISS RGD:1319004 D RGD:13592920 20200206 MouseDO 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:4448 macular degeneration ISO RGD:1319003 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:630 genetic disease ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308941 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:8466 retinal degeneration ISS RGD:1319004 D RGD:13592920 20200206 MouseDO 1308942 Gjd3 gap junction protein, delta 3 gene DOID:630 genetic disease ISO RGD:1319005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308942 Gjd3 gap junction protein, delta 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7364769|PMID:23385797 20130926 RGD protein:decreased expression:retina: 1308943 Vat1 vesicle amine transport 1 gene DOID:630 genetic disease ISO RGD:1319007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308944 Bnip2 BCL2 interacting protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1319009 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308944 Bnip2 BCL2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1319009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308944 Bnip2 BCL2 interacting protein 2 gene DOID:9256 colorectal cancer ISO RGD:1319009 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308945 Cab39l calcium binding protein 39-like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319011 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1308945 Cab39l calcium binding protein 39-like gene DOID:1059 intellectual disability ISO RGD:1319011 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308945 Cab39l calcium binding protein 39-like gene DOID:630 genetic disease ISO RGD:1319011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308946 Hm13 histocompatibility minor 13 gene DOID:630 genetic disease ISO RGD:1319013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308946 Hm13 histocompatibility minor 13 gene DOID:9002834 Herpesviridae Infections treatment ISO RGD:1319014 D RGD:40903051|PMID:24768597 20210114 RGD 1308946 Hm13 histocompatibility minor 13 gene DOID:9002834 Herpesviridae Infections treatment ISO RGD:1319014 D RGD:40903053|PMID:31511378 20210114 RGD 1308946 Hm13 histocompatibility minor 13 gene DOID:9452 fatty liver disease ISO RGD:1319014 D RGD:40924634|PMID:27142248 20210114 RGD associated with hepatitis 1308947 Rgl1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319015 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308947 Rgl1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:630 genetic disease ISO RGD:1319015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308947 Rgl1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319015 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308948 Rrh retinal pigment epithelium derived rhodopsin homolog gene DOID:630 genetic disease ISO RGD:1319017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308949 Ptdss1 phosphatidylserine synthase 1 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1319019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 1308949 Ptdss1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24241535 1308949 Ptdss1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:7240710 20141015 OMIM 1308949 Ptdss1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome PMID:10756342|PMID:15194948|PMID:24241535|PMID:25741868|PMID:2773987 1308949 Ptdss1 phosphatidylserine synthase 1 gene DOID:10907 microcephaly ISO RGD:1319019 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308949 Ptdss1 phosphatidylserine synthase 1 gene DOID:630 genetic disease ISO RGD:1319019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:7240710 20190315 OMIM 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:17576681|PMID:18414213|PMID:25741868|PMID:27431290|PMID:27889060|PMID:28492532|PMID:9536098 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1319021 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1319021 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:13938 amenorrhea ISO RGD:1319021 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:1826 epilepsy ISO RGD:1319021 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:2717 Bloom syndrome ISO RGD:1319021 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:630 genetic disease ISO RGD:1319021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319021 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:27889060 1308950 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:9256 colorectal cancer ISO RGD:1319021 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 1308951 Pogk pogo transposable element derived with KRAB domain gene DOID:1540 parathyroid carcinoma ISO RGD:1319023 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308951 Pogk pogo transposable element derived with KRAB domain gene DOID:630 genetic disease ISO RGD:1319023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308951 Pogk pogo transposable element derived with KRAB domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319023 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308952 Rab11fip3 RAB11 family interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353989 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1308952 Rab11fip3 RAB11 family interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1308952 Rab11fip3 RAB11 family interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308952 Rab11fip3 RAB11 family interacting protein 3 gene DOID:630 genetic disease ISO RGD:1353989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080488 mucolipidosis ISO RGD:1319026 D RGD:11554173 20190226 CTD CTD Direct Evidence: marker/mechanism PMID:20864526|PMID:21613607 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080488 mucolipidosis ISO RGD:1319026 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:15523648|PMID:16287144|PMID:16645217|PMID:17384215|PMID:19815695|PMID:23555759|PMID:24033266|PMID:25741868|PMID:28492532 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:7240710 20190227 OMIM 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31899079|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:9536098 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:25741868|PMID:26467025|PMID:28492532 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319026 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319026 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1319026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome PMID:25741868|PMID:26467025|PMID:28492532 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:1059 intellectual disability ISO RGD:1319026 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: intellectual disabilities 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1319026 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:25741868|PMID:26467025|PMID:28492532 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:3343 glycoproteinosis ISO RGD:1319026 D RGD:1599926|PMID:10973263 20070221 RGD 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:630 genetic disease ISO RGD:1319026 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973263|PMID:11030752|PMID:11317355|PMID:14749347|PMID:15178326|PMID:16978393|PMID:17239335|PMID:17576681|PMID:18326692|PMID:18794901|PMID:21763169|PMID:25119295|PMID:25741868|PMID:25933391|PMID:27670435|PMID:28492532|PMID:31618753|PMID:31899079|PMID:9536098 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:9006257 Growth Disorders ISO RGD:1319026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319026 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1308953 Mcoln1 mucolipin TRP cation channel 1 gene DOID:9008606 Corneal Opacity ISO RGD:1319026 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Corneal opacity 1308954 Cobll1 cordon-bleu WH2 repeat protein-like 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1319028 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 1308954 Cobll1 cordon-bleu WH2 repeat protein-like 1 gene DOID:1826 epilepsy ISO RGD:1319028 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1308954 Cobll1 cordon-bleu WH2 repeat protein-like 1 gene DOID:630 genetic disease ISO RGD:1319028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308954 Cobll1 cordon-bleu WH2 repeat protein-like 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1319028 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34355838 1308955 Chid1 chitinase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1308955 Chid1 chitinase domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604307 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1308955 Chid1 chitinase domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604307 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1308955 Chid1 chitinase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1308955 Chid1 chitinase domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604307 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1308955 Chid1 chitinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308955 Chid1 chitinase domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604307 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1308956 Mtf1 metal-regulatory transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1308956 Mtf1 metal-regulatory transcription factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319031 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1308956 Mtf1 metal-regulatory transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1319031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 1308956 Mtf1 metal-regulatory transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308958 Tmem245 transmembrane protein 245 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1319034 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 1308958 Tmem245 transmembrane protein 245 gene DOID:630 genetic disease ISO RGD:1319034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308959 Dis3l DIS3-like exosome 3'-5' exoribonuclease gene DOID:10283 prostate cancer ISO RGD:1606984 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1308959 Dis3l DIS3-like exosome 3'-5' exoribonuclease gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1308959 Dis3l DIS3-like exosome 3'-5' exoribonuclease gene DOID:2717 Bloom syndrome ISO RGD:1606984 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308959 Dis3l DIS3-like exosome 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1606984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308959 Dis3l DIS3-like exosome 3'-5' exoribonuclease gene DOID:9256 colorectal cancer ISO RGD:1606984 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308961 Pdcd7 programmed cell death 7 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1319039 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1308961 Pdcd7 programmed cell death 7 gene DOID:2717 Bloom syndrome ISO RGD:1319039 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1308961 Pdcd7 programmed cell death 7 gene DOID:630 genetic disease ISO RGD:1319039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308961 Pdcd7 programmed cell death 7 gene DOID:9256 colorectal cancer ISO RGD:1319039 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1319041 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy ISO RGD:1319041 D RGD:7240710 20190315 OMIM 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy ISO RGD:1319041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent PMID:16199547|PMID:25741868|PMID:27912044|PMID:28391250|PMID:28492532|PMID:28914444|PMID:29689137|PMID:30160830|PMID:30525118|PMID:31687261|PMID:31737911|PMID:31741821|PMID:33766999|PMID:33977028 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:607 paraplegia ISO RGD:1319041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1308962 Plpbp pyridoxal phosphate binding protein gene DOID:630 genetic disease ISO RGD:1319041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308963 Lmcd1 LIM and cysteine-rich domains 1 gene DOID:11502 mitral valve insufficiency ISO RGD:1319043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 1308963 Lmcd1 LIM and cysteine-rich domains 1 gene DOID:4248 coronary stenosis ISO RGD:1319043 D RGD:243065232|PMID:32160773 20230413 RGD protein:increased expression:coronary artery 1308963 Lmcd1 LIM and cysteine-rich domains 1 gene DOID:630 genetic disease ISO RGD:1319043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308963 Lmcd1 LIM and cysteine-rich domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319043 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1308963 Lmcd1 LIM and cysteine-rich domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1308963 Lmcd1 LIM and cysteine-rich domains 1 gene DOID:988 mitral valve prolapse ISO RGD:1319043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:7240710 20141015 OMIM 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:16199547|PMID:17576681|PMID:23736855|PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:30168660|PMID:31219695|PMID:32492370|PMID:9536098 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:0080600 COVID-19 ISO RGD:1319045 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:630 genetic disease ISO RGD:1319045 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:31219695 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:6846 familial melanoma ISO RGD:1319045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319045 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:9005369 Hepatomegaly ISO RGD:1319045 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1308964 Stac3 SH3 and cysteine rich domain 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1319045 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1308965 Lman2 lectin, mannose-binding 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1308965 Lman2 lectin, mannose-binding 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1308965 Lman2 lectin, mannose-binding 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1319046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1308965 Lman2 lectin, mannose-binding 2 gene DOID:630 genetic disease ISO RGD:1319046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308965 Lman2 lectin, mannose-binding 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319046 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1308965 Lman2 lectin, mannose-binding 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1319046 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1308966 Efs embryonal Fyn-associated substrate gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1308966 Efs embryonal Fyn-associated substrate gene DOID:630 genetic disease ISO RGD:1319047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308966 Efs embryonal Fyn-associated substrate gene DOID:8778 Crohn's disease ISS RGD:1319048 D RGD:13592920 20180518 MouseDO 1308966 Efs embryonal Fyn-associated substrate gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 1308966 Efs embryonal Fyn-associated substrate gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1308967 Tent5b terminal nucleotidyltransferase 5B gene DOID:630 genetic disease ISO RGD:1344774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308968 Scnm1 sodium channel modifier 1 gene DOID:630 genetic disease ISO RGD:1319050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308968 Scnm1 sodium channel modifier 1 gene DOID:9000935 Orofaciodigital Syndrome XIX ISO RGD:1319050 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX PMID:36084634 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0060369 Parkinson's disease 6 ISO RGD:1319052 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:25741868|PMID:28492532 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1319052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:7240710 20140911 OMIM 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:16199547|PMID:17576681|PMID:22305527|PMID:25741868|PMID:28492532|PMID:34462534|PMID:9536098 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1319052 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:1319052 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319052 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1308970 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1319052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1308971 Icam4 intercellular adhesion molecule 4, Landsteiner-Wiener blood group gene DOID:630 genetic disease ISO RGD:1319054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308972 Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1319056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1308972 Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1319056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308972 Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:9004461 Familial Persistent Stuttering 2 ISO RGD:1319056 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 2 PMID:20147709|PMID:21956109 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:1059 intellectual disability ISO RGD:1319058 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:630 genetic disease ISO RGD:1319058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308973 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319058 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319059 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:630 genetic disease ISO RGD:1319059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319059 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1308974 Melk maternal embryonic leucine zipper kinase gene DOID:9870 galactosemia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1308975 Klk12 kallikrein related-peptidase 12 gene DOID:630 genetic disease ISO RGD:1319061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308976 Prg4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 1308976 Prg4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:7240710 20130425 OMIM 1308976 Prg4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:10545950|PMID:25741868|PMID:29397575|PMID:32860008 1308976 Prg4 proteoglycan 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1319063 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1308976 Prg4 proteoglycan 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319063 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308976 Prg4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 1308976 Prg4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:1580712|PMID:16429407 19990101 RGD 1308976 Prg4 proteoglycan 4 gene DOID:630 genetic disease ISO RGD:1319063 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308976 Prg4 proteoglycan 4 gene DOID:9002221 Hyperplasia ISO RGD:1319063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 1308976 Prg4 proteoglycan 4 gene DOID:9006836 Contracture ISO RGD:1319063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 1308976 Prg4 proteoglycan 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319063 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308977 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350104 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1308977 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:12849 autistic disorder ISO RGD:1350104 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism 1308977 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:630 genetic disease ISO RGD:1350104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308979 Chst8 carbohydrate sulfotransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1319067 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1308979 Chst8 carbohydrate sulfotransferase 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1319067 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1308979 Chst8 carbohydrate sulfotransferase 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1308979 Chst8 carbohydrate sulfotransferase 8 gene DOID:630 genetic disease ISO RGD:1319067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308979 Chst8 carbohydrate sulfotransferase 8 gene DOID:9008071 Peeling Skin Syndrome 3 ISO RGD:1319067 D RGD:7240710 20170329 OMIM 1308979 Chst8 carbohydrate sulfotransferase 8 gene DOID:9008071 Peeling Skin Syndrome 3 ISO RGD:1319067 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 3 PMID:22289416|PMID:25741868|PMID:28492532 1308980 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1308980 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1308980 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:607 paraplegia ISO RGD:1319069 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1308980 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:630 genetic disease ISO RGD:1319069 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308980 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:8692 myeloid leukemia ISO RGD:1319069 D RGD:1599847|PMID:11986249 20070219 RGD 1308981 Nlrp9 NLR family, pyrin domain containing 9 gene DOID:630 genetic disease ISO RGD:1319070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISS RGD:1319073 D RGD:13592920 20180518 MouseDO OMIM:601457 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:7240710 20160615 OMIM 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:16199547|PMID:17576681|PMID:19075392|PMID:23722905|PMID:25640679|PMID:25741868|PMID:25842288|PMID:26122175|PMID:28492532|PMID:29987844|PMID:30121298|PMID:30778343|PMID:9536098 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:10907 microcephaly ISO RGD:1319072 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:13413 hepatic encephalopathy ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1319072 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency IMP D RGD:8696027|PMID:22981234 20170608 RGD 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1319073 D RGD:1599202|PMID:9122213 20070119 RGD 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:630 genetic disease ISO RGD:1319072 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:850 lung disease ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17200189 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9000046 Poisoning ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17196815|PMID:25415046 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9003676 Brain Hypoxia-Ischemia treatment IMP D RGD:39938998|PMID:30485360 20220120 RGD 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 1308982 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 1308983 Zkscan8 zinc finger with KRAB and SCAN domains 8 gene DOID:11372 megacolon ISO RGD:1319074 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1308983 Zkscan8 zinc finger with KRAB and SCAN domains 8 gene DOID:630 genetic disease ISO RGD:1319074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308984 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606019 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1308984 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:5419 schizophrenia ISO RGD:1606019 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1308984 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:630 genetic disease ISO RGD:1606019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308984 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606019 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308984 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:9007661 Dwarfism ISO RGD:1606019 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1308985 Slc35b4 solute carrier family 35 member B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319077 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1308985 Slc35b4 solute carrier family 35 member B4 gene DOID:630 genetic disease ISO RGD:1319077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308986 Jrkl JRK-like gene DOID:1059 intellectual disability ISO RGD:1319078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308986 Jrkl JRK-like gene DOID:12704 ataxia telangiectasia ISO RGD:1319078 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1308986 Jrkl JRK-like gene DOID:630 genetic disease ISO RGD:1319078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308989 Gsdmc gasdermin C gene DOID:630 genetic disease ISO RGD:1319081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308990 Ddx10 DEAD-box helicase 10 gene DOID:1059 intellectual disability ISO RGD:1319083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1308990 Ddx10 DEAD-box helicase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1319083 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1308990 Ddx10 DEAD-box helicase 10 gene DOID:630 genetic disease ISO RGD:1319083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308990 Ddx10 DEAD-box helicase 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319083 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1308990 Ddx10 DEAD-box helicase 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1308992 Scyl3 SCY1 like pseudokinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308992 Scyl3 SCY1 like pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1603625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308992 Scyl3 SCY1 like pseudokinase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603625 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1308992 Scyl3 SCY1 like pseudokinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603625 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308993 Marchf7 membrane associated ring-CH-type finger 7 gene DOID:12849 autistic disorder ISO RGD:1603971 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1308993 Marchf7 membrane associated ring-CH-type finger 7 gene DOID:630 genetic disease ISO RGD:1603971 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308995 Dennd2b DENN domain containing 2B gene DOID:630 genetic disease ISO RGD:1319089 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308996 S100a5 S100 calcium binding protein A5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1308996 S100a5 S100 calcium binding protein A5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1308996 S100a5 S100 calcium binding protein A5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1308996 S100a5 S100 calcium binding protein A5 gene DOID:1540 parathyroid carcinoma ISO RGD:1319090 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1308996 S100a5 S100 calcium binding protein A5 gene DOID:3525 middle cerebral artery infarction ISO RGD:1319090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 1308996 S100a5 S100 calcium binding protein A5 gene DOID:5812 MHC class II deficiency ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1308996 S100a5 S100 calcium binding protein A5 gene DOID:630 genetic disease ISO RGD:1319090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308996 S100a5 S100 calcium binding protein A5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319090 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1308998 Abca6 ATP binding cassette subfamily A member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1319094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 1308998 Abca6 ATP binding cassette subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1319094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308998 Abca6 ATP binding cassette subfamily A member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1308999 Cldn9 claudin 9 gene DOID:0050563 nonsyndromic deafness ISO RGD:1319096 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868 1308999 Cldn9 claudin 9 gene DOID:0060744 Pendred syndrome ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386|PMID:35802133|PMID:36633841 1308999 Cldn9 claudin 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1308999 Cldn9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:7240710 20201202 OMIM 1308999 Cldn9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 116 PMID:25741868|PMID:30311386|PMID:31175426|PMID:35802133|PMID:36633841 1308999 Cldn9 claudin 9 gene DOID:1826 epilepsy ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1308999 Cldn9 claudin 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1308999 Cldn9 claudin 9 gene DOID:630 genetic disease ISO RGD:1319096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1308999 Cldn9 claudin 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1308999 Cldn9 claudin 9 gene DOID:9004538 Hearing Loss ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:25741868|PMID:30311386|PMID:31175426 1309000 Sox6 SRY-box transcription factor 6 gene DOID:0050700 cardiomyopathy ISO RGD:1319099 D RGD:158014899|PMID:26029872 20230321 RGD 1309000 Sox6 SRY-box transcription factor 6 gene DOID:0080000 muscular disease ISO RGD:1319099 D RGD:1580857|PMID:10760285 19990101 RGD 1309000 Sox6 SRY-box transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1319098 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309000 Sox6 SRY-box transcription factor 6 gene DOID:3070 high grade glioma ISO RGD:1319098 D RGD:1580007|PMID:15696967 19990101 RGD 1309000 Sox6 SRY-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1319098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309000 Sox6 SRY-box transcription factor 6 gene DOID:9003163 Heart Block ISO RGD:1319099 D RGD:1580857|PMID:10760285 19990101 RGD 1309000 Sox6 SRY-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32442410 1309000 Sox6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:7240710 20200812 OMIM 1309000 Sox6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tolchin-Le Caignec syndrome PMID:25741868|PMID:32442410 1309000 Sox6 SRY-box transcription factor 6 gene DOID:9007692 Insulin Resistance ISO RGD:1319099 D RGD:1581307|PMID:16148004 19990101 RGD 1309000 Sox6 SRY-box transcription factor 6 gene DOID:9008582 Developmental Disease ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1309001 Cldn23 claudin 23 gene DOID:3310 atopic dermatitis ISO RGD:1319100 D RGD:11344875|PMID:21163515 20160707 RGD mRNA:decreased expression:epidermis: 1309001 Cldn23 claudin 23 gene DOID:630 genetic disease ISO RGD:1319100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309001 Cldn23 claudin 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319100 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309002 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:7240710 20190911 OMIM 1309002 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 3 PMID:25741868|PMID:30412317 1309002 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1344980 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33077954 1309002 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:8725 vascular dementia ISO RGD:1344980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1309003 Usp25 ubiquitin specific peptidase 25 gene DOID:10652 Alzheimer's disease ISO RGD:1319103 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1309003 Usp25 ubiquitin specific peptidase 25 gene DOID:630 genetic disease ISO RGD:1319103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309003 Usp25 ubiquitin specific peptidase 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319103 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309004 Zkscan4 zinc finger with KRAB and SCAN domains 4 gene DOID:11372 megacolon ISO RGD:1319105 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1309004 Zkscan4 zinc finger with KRAB and SCAN domains 4 gene DOID:5419 schizophrenia ISO RGD:1319105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 1309004 Zkscan4 zinc finger with KRAB and SCAN domains 4 gene DOID:630 genetic disease ISO RGD:1319105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1319106 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:11743580|PMID:25741868|PMID:28492532|PMID:31673878 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319106 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:25741868|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1319106 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:12738396|PMID:20232219 20170202 RGD DNA:missense mutation:cds:p.L239F (human) 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:12738397|PMID:18492089 20170202 RGD DNA:missense mutation:cds:p.P231L (human) 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:7240710 20130221 OMIM 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15192818|PMID:15805163|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19089472|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21519004|PMID:21681106|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:22206013|PMID:22546700|PMID:23456260|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31673878|PMID:32183277|PMID:32376792|PMID:33187793|PMID:33903021 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1319106 D RGD:12738395|PMID:21365284 20170202 RGD DNA:missense mutation:cds:p.G327D (human) 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:12738391|PMID:11743579 20170202 RGD DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human) 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:12738393|PMID:11743580 20170202 RGD DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human) 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:7240710 20130221 OMIM 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:12868504|PMID:14561495|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21322820|PMID:21326314|PMID:21365284|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26525999|PMID:26648837|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:28902413|PMID:29184355|PMID:29372391|PMID:31673878|PMID:31827005|PMID:32183277|PMID:32298515|PMID:32376792|PMID:33136338|PMID:33179230|PMID:33187793|PMID:33219631|PMID:33477664|PMID:33903021|PMID:34169998|PMID:34366782|PMID:9536098 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:7240710 20130221 OMIM 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A PMID:11743580|PMID:12499475|PMID:12566285|PMID:14561495|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:21212451|PMID:21322820|PMID:21365284|PMID:21890626|PMID:25231362|PMID:25614874|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28220846|PMID:28492532|PMID:31673878|PMID:32376792|PMID:33477664 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319106 D RGD:1358634|PMID:12499475 19990101 RGD DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human) 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31673878|PMID:32376792|PMID:33187793|PMID:34366782 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319107 D RGD:12738398|PMID:24480485 20170202 RGD 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:1389 polyneuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:630 genetic disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499475|PMID:14561495|PMID:15805163|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21753178|PMID:21890626|PMID:22206013|PMID:22546700|PMID:25231362|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28244113|PMID:28492532|PMID:28495047|PMID:32376792|PMID:34366782|PMID:9536098 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Axonal neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:870 neuropathy ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:7240710 20170315 OMIM 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15019704|PMID:15805163|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21365284|PMID:21519004|PMID:21840889|PMID:25231362|PMID:25741868|PMID:26467025|PMID:26848201|PMID:27549087|PMID:28492532|PMID:32376792|PMID:33187793|PMID:33477664 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1319106 D RGD:8554872 20210824 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1319106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25741868|PMID:27549087|PMID:28492532 1309005 Gdap1 ganglioside-induced differentiation-associated-protein 1 gene DOID:9008305 Talipes Cavus ISO RGD:1319106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:28492532 1309006 Tmem68 transmembrane protein 68 gene DOID:630 genetic disease ISO RGD:1603902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309007 Mnd1 meiotic nuclear divisions 1 gene DOID:630 genetic disease ISO RGD:1604777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309008 Def8 differentially expressed in FDCP 8 homolog gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1309008 Def8 differentially expressed in FDCP 8 homolog gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1603215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1309008 Def8 differentially expressed in FDCP 8 homolog gene DOID:13636 Fanconi anemia ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1309008 Def8 differentially expressed in FDCP 8 homolog gene DOID:630 genetic disease ISO RGD:1603215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309009 Ppfia1 PTPRF interacting protein alpha 1 gene DOID:1059 intellectual disability ISO RGD:1319111 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309009 Ppfia1 PTPRF interacting protein alpha 1 gene DOID:630 genetic disease ISO RGD:1319111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309010 Erlin2 ER lipid raft associated 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1309010 Erlin2 ER lipid raft associated 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1350824 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868 1309010 Erlin2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:7240710 20130731 OMIM 1309010 Erlin2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 PMID:21330303|PMID:23109145|PMID:25741868 1309010 Erlin2 ER lipid raft associated 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1309010 Erlin2 ER lipid raft associated 2 gene DOID:1059 intellectual disability ISO RGD:1350824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1309010 Erlin2 ER lipid raft associated 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32147972 1309010 Erlin2 ER lipid raft associated 2 gene DOID:607 paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21330303|PMID:23109145|PMID:24482476|PMID:25741868|PMID:27824013|PMID:28492532|PMID:28832565|PMID:30564185|PMID:32147972|PMID:9536098 1309010 Erlin2 ER lipid raft associated 2 gene DOID:630 genetic disease ISO RGD:1350824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28832565 1309010 Erlin2 ER lipid raft associated 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1350824 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1309012 Rnaseh1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:7240710 20170405 OMIM 1309012 Rnaseh1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084 1309012 Rnaseh1 ribonuclease H1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1319116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 1309012 Rnaseh1 ribonuclease H1 gene DOID:630 genetic disease ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309013 Son SON DNA and RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1309013 Son SON DNA and RNA binding protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1319118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1309013 Son SON DNA and RNA binding protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1309013 Son SON DNA and RNA binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309013 Son SON DNA and RNA binding protein gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 1309013 Son SON DNA and RNA binding protein gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1319118 D RGD:155641262|PMID:31005274 20221107 RGD DNA:missense mutations:exon 3:multiple (human) 1309013 Son SON DNA and RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1319118 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309013 Son SON DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 1309013 Son SON DNA and RNA binding protein gene DOID:8469 influenza ISO RGD:1319119 D RGD:155641258|PMID:34883209 20221107 RGD 1309013 Son SON DNA and RNA binding protein gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309013 Son SON DNA and RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 1309013 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:11560664|PMID:27545680 20221108 RGD DNA:missense mutations:exon 3:multiple (human) 1309013 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:11560855|PMID:27545676 20221108 RGD DNA:missense mutations:exon 3,4:multiple (human) 1309013 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:155641263|PMID:32705777 20221107 RGD DNA:frameshift mutation:cds:p.Ala1340GlnfsTer26|p.Asp1640GlyfsTer7 (human) 1309013 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:7240710 20190315 OMIM 1309013 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999 1309013 Son SON DNA and RNA binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:34521999 1309013 Son SON DNA and RNA binding protein gene DOID:9008582 Developmental Disease ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1309014 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346417 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1309014 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:12849 autistic disorder ISO RGD:1346417 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309014 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:5419 schizophrenia ISO RGD:1346417 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309014 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:630 genetic disease ISO RGD:1346417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309015 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319121 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309015 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319121 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309015 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:630 genetic disease ISO RGD:1319121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309015 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319121 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1309016 Enoph1 enolase-phosphatase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603616 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1309016 Enoph1 enolase-phosphatase 1 gene DOID:10316 pneumoconiosis ISO RGD:1603616 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1309016 Enoph1 enolase-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1603616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309016 Enoph1 enolase-phosphatase 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603616 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1309017 Ehd1 EH-domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309017 Ehd1 EH-domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309017 Ehd1 EH-domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309017 Ehd1 EH-domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309017 Ehd1 EH-domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1319124 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1309017 Ehd1 EH-domain containing 1 gene DOID:630 genetic disease ISO RGD:1319124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309017 Ehd1 EH-domain containing 1 gene DOID:9970 obesity IEP D RGD:8661255|PMID:21365757 20171212 RGD 1309018 Eif3b eukaryotic translation initiation factor 3, subunit B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1309018 Eif3b eukaryotic translation initiation factor 3, subunit B gene DOID:630 genetic disease ISO RGD:1319125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309019 Rasal3 RAS protein activator like 3 gene DOID:630 genetic disease ISO RGD:2302537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309019 Rasal3 RAS protein activator like 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:2302537 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 1309020 Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0090128 Carvajal syndrome ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 1309020 Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 1309020 Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:630 genetic disease ISO RGD:1319128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309022 Bco2 beta-carotene oxygenase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1319131 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1309022 Bco2 beta-carotene oxygenase 2 gene DOID:1059 intellectual disability ISO RGD:1319131 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309022 Bco2 beta-carotene oxygenase 2 gene DOID:630 genetic disease ISO RGD:1319131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309022 Bco2 beta-carotene oxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1319131 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309022 Bco2 beta-carotene oxygenase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319131 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309022 Bco2 beta-carotene oxygenase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1319131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1309023 Mex3c mex-3 RNA binding family member C gene DOID:0060224 atrial fibrillation ISO RGD:1319133 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1309023 Mex3c mex-3 RNA binding family member C gene DOID:1059 intellectual disability ISO RGD:1319133 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309023 Mex3c mex-3 RNA binding family member C gene DOID:630 genetic disease ISO RGD:1319133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309023 Mex3c mex-3 RNA binding family member C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309025 Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component gene DOID:2340 craniosynostosis ISO RGD:1319136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1309025 Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309029 Tomm34 translocase of outer mitochondrial membrane 34 gene DOID:2234 focal epilepsy ISO RGD:1319142 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309029 Tomm34 translocase of outer mitochondrial membrane 34 gene DOID:630 genetic disease ISO RGD:1319142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309029 Tomm34 translocase of outer mitochondrial membrane 34 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1309030 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:12336 male infertility ISO RGD:1345101 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Male infertility 1309030 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22495309|PMID:25326635|PMID:25741868|PMID:30208311 1309030 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:14228 oligospermia ISO RGD:1345101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18353305 1309030 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345101 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1309030 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1345101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309031 Hltf helicase-like transcription factor gene DOID:0050579 glycogen storage disease XV ISO RGD:1319146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1309031 Hltf helicase-like transcription factor gene DOID:630 genetic disease ISO RGD:1319146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309031 Hltf helicase-like transcription factor gene DOID:9002265 Kidney Neoplasms ISO RGD:1319146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762066 1309033 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351194 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309033 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:1059 intellectual disability ISO RGD:1351194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309033 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:630 genetic disease ISO RGD:1351194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309033 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1309034 Rpap2 RNA polymerase II associated protein 2 gene DOID:630 genetic disease ISO RGD:1602679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309035 Ms4a8 membrane spanning 4-domains A8 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309035 Ms4a8 membrane spanning 4-domains A8 gene DOID:1059 intellectual disability ISO RGD:1319151 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309035 Ms4a8 membrane spanning 4-domains A8 gene DOID:630 genetic disease ISO RGD:1319151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309036 C1h19orf81 simlar to human chromosome 19 open reading frame 81 gene DOID:630 genetic disease ISO RGD:5489342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:1540 parathyroid carcinoma ISO RGD:1319153 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:4450 renal cell carcinoma ISO RGD:1319153 D RGD:11554173 20191015 CTD CTD Direct Evidence: marker/mechanism 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:4450 renal cell carcinoma ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:25741868 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:4465 papillary renal cell carcinoma ISO RGD:1319153 D RGD:7240710 20180919 OMIM 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:5812 MHC class II deficiency ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:630 genetic disease ISO RGD:1319153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868 1309037 Prcc proline rich mitotic checkpoint control factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319153 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:16199547|PMID:20220177|PMID:27068304|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:19763152|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20307669|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22406018|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28902413|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31211173|PMID:31227790|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31634715|PMID:31673878|PMID:31692161|PMID:31827005|PMID:32376792|PMID:33643188|PMID:9536098 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1348846 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0060249 scoliosis ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1348846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:25741868|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:7240710 20130221 OMIM 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:30001926|PMID:30653784|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:9536098 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1348846 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1348846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:20220177|PMID:25614874|PMID:27068304|PMID:28492532|PMID:31827005 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1348846 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:3070 high grade glioma ISO RGD:1348846 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:5419 schizophrenia ISO RGD:1348846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:571 median neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve PMID:25741868|PMID:26467025|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:574 peripheral nervous system disease ISO RGD:1348846 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574644|PMID:16199547|PMID:16806930|PMID:16924012|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31827005|PMID:32376792|PMID:33643188 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:870 neuropathy ISO RGD:1348846 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348846 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:7240710 20130221 OMIM 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild PMID:14574644|PMID:16806930|PMID:16924012|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:30001926|PMID:30653784|PMID:31346473|PMID:32376792 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309038 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9008305 Talipes Cavus ISO RGD:1348846 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868|PMID:26392352|PMID:26467025|PMID:26872463|PMID:28492532 1309039 Ptch2 patched 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309039 Ptch2 patched 2 gene DOID:0050902 medulloblastoma ISO RGD:1604843 D RGD:7240710 20170830 OMIM 1309039 Ptch2 patched 2 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 1309039 Ptch2 patched 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604843 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309039 Ptch2 patched 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309039 Ptch2 patched 2 gene DOID:13501 Moebius syndrome ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532|PMID:28915250 1309039 Ptch2 patched 2 gene DOID:2120 focal dermal hypoplasia ISO RGD:1604843 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:28492532 1309039 Ptch2 patched 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:16199547|PMID:17576681|PMID:18285427|PMID:23951062|PMID:25260786|PMID:25741868|PMID:28492532|PMID:28915250|PMID:31945512|PMID:32864857|PMID:33077954|PMID:9536098 1309039 Ptch2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:7240710 20230505 OMIM 1309039 Ptch2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:28492532|PMID:31945512|PMID:9931336 1309039 Ptch2 patched 2 gene DOID:630 genetic disease ISO RGD:1604843 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309039 Ptch2 patched 2 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1604843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:28492532 1309039 Ptch2 patched 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604843 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1309040 Nudt8 nudix hydrolase 8 gene DOID:1059 intellectual disability ISO RGD:1319158 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309040 Nudt8 nudix hydrolase 8 gene DOID:630 genetic disease ISO RGD:1319158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309040 Nudt8 nudix hydrolase 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309040 Nudt8 nudix hydrolase 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309041 Zdhhc3 zinc finger DHHC-type palmitoyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309042 Bnc1 basonuclin 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:7240710 20200101 OMIM 1309042 Bnc1 basonuclin 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 16 PMID:10909|PMID:25741868 1309042 Bnc1 basonuclin 1 gene DOID:13938 amenorrhea ISO RGD:1319162 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1309042 Bnc1 basonuclin 1 gene DOID:2717 Bloom syndrome ISO RGD:1319162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309042 Bnc1 basonuclin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319162 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1309042 Bnc1 basonuclin 1 gene DOID:630 genetic disease ISO RGD:1319162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309042 Bnc1 basonuclin 1 gene DOID:9256 colorectal cancer ISO RGD:1319162 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309043 Tmem106a transmembrane protein 106A gene DOID:0080600 COVID-19 ISO RGD:1603282 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309043 Tmem106a transmembrane protein 106A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603282 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 1309043 Tmem106a transmembrane protein 106A gene DOID:630 genetic disease ISO RGD:1603282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309043 Tmem106a transmembrane protein 106A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603282 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1354502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:16644682|PMID:17187067|PMID:17576681|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25741868|PMID:28391974|PMID:28492532|PMID:28499397|PMID:9536098 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1354502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25287355|PMID:25741868|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:32041611|PMID:9536098 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354502 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1354502 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:114 heart disease ISO RGD:1354502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21585347|PMID:23867907 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1354502 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354502 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:423 myopathy ISO RGD:1354502 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Myopathy 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1354502 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:630 genetic disease ISO RGD:1354502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1354502 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1354502 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:7240710 20150624 OMIM 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis PMID:25741868 1309044 Pnpla2 patatin-like phospholipase domain containing 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354502 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 1309045 Ifnk interferon kappa gene DOID:630 genetic disease ISO RGD:1319166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319167 D RGD:2293530|PMID:14871982 20080603 RGD 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:11633 thyroid hormone resistance syndrome ISS RGD:1319168 D RGD:13592920 20180518 MouseDO OMIM:188570 | OMIM:274300 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:1459 hypothyroidism IEP D RGD:2306463|PMID:11850121 20090417 RGD mRNA:altered expression:brain 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:2871 endometrial carcinoma ISO RGD:1319167 D RGD:2298984|PMID:14751175 20080807 RGD mRNA:increased expression:endometrium 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:289 endometriosis ISO RGD:1319167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:3459 breast carcinoma severity ISO RGD:1319167 D RGD:2293529|PMID:17902051 20080603 RGD 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1319167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 1309046 Ncoa1 nuclear receptor coactivator 1 gene DOID:9970 obesity ISS RGD:1319168 D RGD:13592920 20180518 MouseDO OMIM:601665 1309047 Dmrt2 doublesex and mab-3 related transcription factor 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1309047 Dmrt2 doublesex and mab-3 related transcription factor 2 gene DOID:14447 gonadal dysgenesis ISO RGD:1319169 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Gonadal agenesis PMID:25741868 1309047 Dmrt2 doublesex and mab-3 related transcription factor 2 gene DOID:630 genetic disease ISO RGD:1319169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0050777 Joubert syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:2843 long QT syndrome ISO RGD:1319171 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:3652 Leigh disease ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:630 genetic disease ISO RGD:1319171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 1309048 Snapc4 small nuclear RNA activating complex, polypeptide 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1309050 Frmd4a FERM domain containing 4A gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350302 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1309050 Frmd4a FERM domain containing 4A gene DOID:10907 microcephaly ISO RGD:1350302 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309050 Frmd4a FERM domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1350302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1309050 Frmd4a FERM domain containing 4A gene DOID:630 genetic disease ISO RGD:1350302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309050 Frmd4a FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:7240710 20190315 OMIM 1309050 Frmd4a FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia PMID:25388005|PMID:25741868|PMID:28492532 1309051 Ppp1r36 protein phosphatase 1, regulatory subunit 36 gene DOID:630 genetic disease ISO RGD:1319175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309052 Dpf3 double PHD fingers 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319176 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1309052 Dpf3 double PHD fingers 3 gene DOID:1059 intellectual disability ISO RGD:1319176 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309052 Dpf3 double PHD fingers 3 gene DOID:630 genetic disease ISO RGD:1319176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319178 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:31123343 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:0050902 medulloblastoma ISO RGD:1319178 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:31694585 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:0060250 idiopathic scoliosis ISS RGD:1319179 D RGD:13592920 20220519 MouseDO 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:2696 Leydig cell tumor ISO RGD:1319178 D RGD:2299953|PMID:17437848 20080821 RGD protein:altered localization 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:2841 asthma IEP D RGD:9491823|PMID:20423833 20140912 RGD mRNA:increased expression:lung, spleen 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:4440 seminoma ISO RGD:1319178 D RGD:2299953|PMID:17437848 20080821 RGD protein:altered localization 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319178 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1319178 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30957988 1309053 Prmt5 protein arginine methyltransferase 5 gene DOID:9538 multiple myeloma ISO RGD:1319178 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:29158558 1309054 Tcf25 transcription factor 25 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1309054 Tcf25 transcription factor 25 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1309054 Tcf25 transcription factor 25 gene DOID:13636 Fanconi anemia ISO RGD:1602223 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29098742|PMID:9721219 1309054 Tcf25 transcription factor 25 gene DOID:630 genetic disease ISO RGD:1602223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309054 Tcf25 transcription factor 25 gene DOID:6846 familial melanoma ISO RGD:1602223 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 1309055 Ngef neuronal guanine nucleotide exchange factor gene DOID:0060476 Perlman syndrome ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1309055 Ngef neuronal guanine nucleotide exchange factor gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1309055 Ngef neuronal guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1319181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309057 Tbx4 T-box transcription factor 4 gene DOID:0050777 Joubert syndrome ISO RGD:1319185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309057 Tbx4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:7240710 20130221 OMIM 1309057 Tbx4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coxopodopatellar syndrome PMID:11303519|PMID:15106123|PMID:23592887|PMID:24033266|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31761294|PMID:31965066|PMID:32581362|PMID:32860008 1309057 Tbx4 T-box transcription factor 4 gene DOID:11111 hydronephrosis ISO RGD:1319185 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:31965066 1309057 Tbx4 T-box transcription factor 4 gene DOID:11372 megacolon ISO RGD:1319185 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1309057 Tbx4 T-box transcription factor 4 gene DOID:381 arthropathy susceptibility ISO RGD:1319185 D RGD:1601422|PMID:15106123 20070419 RGD Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X 1309057 Tbx4 T-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309057 Tbx4 T-box transcription factor 4 gene DOID:9000096 Lung Agenesis ISO RGD:1319185 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypoplasia 1309057 Tbx4 T-box transcription factor 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1319185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:15106123|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32581362|PMID:32860008|PMID:33066286 1309057 Tbx4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:7240710 20200226 OMIM 1309057 Tbx4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive amelia PMID:24033266|PMID:25741868|PMID:28492532|PMID:31761294|PMID:31965066 1309057 Tbx4 T-box transcription factor 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1319185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:15106123|PMID:16199547|PMID:17576681|PMID:23592887|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098 1309058 Fam161b FAM161 centrosomal protein B gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1319187 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1309058 Fam161b FAM161 centrosomal protein B gene DOID:1059 intellectual disability ISO RGD:1319187 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309058 Fam161b FAM161 centrosomal protein B gene DOID:630 genetic disease ISO RGD:1319187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309059 Ppp4r3a protein phosphatase 4, regulatory subunit 3A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1309060 Irx1 iroquois homeobox 1 gene DOID:630 genetic disease ISO RGD:1349465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309060 Irx1 iroquois homeobox 1 gene DOID:850 lung disease ISO RGD:1349465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 1309061 Neurog2 neurogenin 2 gene DOID:12271 aniridia ISO RGD:1319191 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1309061 Neurog2 neurogenin 2 gene DOID:630 genetic disease ISO RGD:1319191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309062 Isoc2b isochorismatase domain containing 2b gene DOID:630 genetic disease ISO RGD:1350867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309062 Isoc2b isochorismatase domain containing 2b gene DOID:8398 osteoarthritis ISO RGD:1350867 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:0050855 renal fibrosis IMP D RGD:7244136|PMID:15647835 20130522 RGD associated with Renal Insufficiency, Chronic 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:1319195 D RGD:7244140|PMID:12874250 20130522 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:0080322 polycystic kidney disease ISO RGD:1319195 D RGD:7243974|PMID:22025716 20130521 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319194 D RGD:2298559|PMID:17705178 20080711 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:10286 prostate carcinoma ISO RGD:1319194 D RGD:2298560|PMID:11912448 20080711 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis ISO RGD:1319194 D RGD:7244144|PMID:19011907 20130522 RGD DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis no_association ISO RGD:1319194 D RGD:7244146|PMID:15687724 20130522 RGD DNA:polymorphism:3' utr:2964G>A (human) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis severity ISO RGD:1319194 D RGD:7244138|PMID:12900808 20130522 RGD DNA:polymorphism:3' utr:g.2964G>A (human) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:12361 Graves' disease ISO RGD:1319195 D RGD:7244137|PMID:15117875 20130522 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:13139 crescentic glomerulonephritis ISO RGD:1319195 D RGD:7243976|PMID:21985369 20130521 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:1394 urinary schistosomiasis severity ISO RGD:1319194 D RGD:7243977|PMID:18273035 20130521 RGD DNA:SNP:enhancer: (rs324013) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:1996 rectum adenocarcinoma ISO RGD:1319194 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNP:intron: (rs3024979) (human) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:234 colon adenocarcinoma ISO RGD:1319194 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNP:3' utr: (rs324015) (human) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:2841 asthma IEP D RGD:7244151|PMID:19087723 20130522 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:2841 asthma treatment IDA D RGD:7244153|PMID:16083555 20130522 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:3310 atopic dermatitis ISO RGD:1319194 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15306842 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1319194 D RGD:153298934|PMID:33042401 20220729 RGD mRNA:increased expression:stomach (human) 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1319194 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:26699812 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:417 autoimmune disease ISO RGD:1319195 D RGD:7243973|PMID:22867713 20130521 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:630 genetic disease ISO RGD:1319194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:820 myocarditis IEP D RGD:7244150|PMID:22134058 20130522 RGD mRNA:increased expression:left heart ventricle 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319194 D RGD:7243978|PMID:16399078 20130521 RGD protein:increased expression:kidney, epithelial cell 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9000197 Edema ISO RGD:1319194 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15306842 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9000784 Fibrosis ISO RGD:1319195 D RGD:7829775|PMID:10486156 20140124 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1319194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:2303397|PMID:17880360 20090211 RGD mRNA:increased expression:hippocampus 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9004484 Sepsis severity ISO RGD:1319195 D RGD:7207876|PMID:11257135 20130522 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319195 D RGD:2298563|PMID:11086031 20080711 RGD 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1319194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21765211 1309063 Stat6 signal transducer and activator of transcription 6 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1319195 D RGD:7244143|PMID:12709397 20130522 RGD 1309065 Efcab6 EF-hand calcium binding domain 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601856 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309065 Efcab6 EF-hand calcium binding domain 6 gene DOID:10283 prostate cancer ISO RGD:1601856 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309065 Efcab6 EF-hand calcium binding domain 6 gene DOID:1059 intellectual disability ISO RGD:1601856 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309065 Efcab6 EF-hand calcium binding domain 6 gene DOID:630 genetic disease ISO RGD:1601856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309066 Adam24 ADAM metallopeptidase domain 24 gene DOID:630 genetic disease ISO RGD:1342886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309066 Adam24 ADAM metallopeptidase domain 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342886 D RGD:8554872 20201117 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309067 Eme1 essential meiotic structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:1319200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309068 Adprs ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:7240710 20190315 OMIM 1309068 Adprs ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures PMID:25741868|PMID:30100084|PMID:30401461 1309068 Adprs ADP-ribosylserine hydrolase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319201 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309068 Adprs ADP-ribosylserine hydrolase gene DOID:10003 sensorineural hearing loss ISO RGD:1319201 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 1309068 Adprs ADP-ribosylserine hydrolase gene DOID:630 genetic disease ISO RGD:1319201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309069 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:7240710 20130221 OMIM 1309069 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 18 PMID:11519376|PMID:17576681|PMID:21636066|PMID:25741868|PMID:27878435|PMID:28418495|PMID:28492532|PMID:33767456|PMID:9536098 1309069 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:630 genetic disease ISO RGD:1319203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309069 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:83 cataract ISO RGD:1319203 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital cataract 1309069 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1309069 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1319203 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 1309070 Ctsa cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:7240710 20130221 OMIM 1309070 Ctsa cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile PMID:10333491|PMID:10571006|PMID:10944848|PMID:12649068|PMID:15110321|PMID:16199547|PMID:16538002|PMID:1756715|PMID:17576681|PMID:18937050|PMID:2148053|PMID:22386972|PMID:23806086|PMID:23915561|PMID:24033266|PMID:24088042|PMID:24769197|PMID:24779613|PMID:25075748|PMID:25741868|PMID:26036949|PMID:26259553|PMID:27664989|PMID:27848944|PMID:28334938|PMID:28454995|PMID:28492532|PMID:28603679|PMID:28702507|PMID:29333829|PMID:29876240|PMID:3149149|PMID:32036093|PMID:8514852|PMID:8968752|PMID:9536098|PMID:9603439 1309070 Ctsa cathepsin A gene DOID:1826 epilepsy ISO RGD:1319205 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309070 Ctsa cathepsin A gene DOID:2234 focal epilepsy ISO RGD:1319205 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309070 Ctsa cathepsin A gene DOID:3211 lysosomal storage disease ISO RGD:1319205 D RGD:1599169|PMID:8514852 20070118 RGD 1309070 Ctsa cathepsin A gene DOID:630 genetic disease ISO RGD:1319205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18937050|PMID:28492532 1309070 Ctsa cathepsin A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1309070 Ctsa cathepsin A gene DOID:9008386 Hydrops Fetalis ISO RGD:1319205 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1309072 Sox8 SRY-box transcription factor 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1309072 Sox8 SRY-box transcription factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1309072 Sox8 SRY-box transcription factor 8 gene DOID:1826 epilepsy ISO RGD:1319208 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309072 Sox8 SRY-box transcription factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319208 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309072 Sox8 SRY-box transcription factor 8 gene DOID:574 peripheral nervous system disease ISO RGD:1319208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1309072 Sox8 SRY-box transcription factor 8 gene DOID:630 genetic disease ISO RGD:1319208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309072 Sox8 SRY-box transcription factor 8 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1319208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 1309073 Fbxo48 F-box protein 48 gene DOID:630 genetic disease ISO RGD:1605751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309074 C8g complement C8 gamma chain gene DOID:0050777 Joubert syndrome ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1309074 C8g complement C8 gamma chain gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319211 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:0081097 Rafiq syndrome ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1309074 C8g complement C8 gamma chain gene DOID:1826 epilepsy ISO RGD:1319211 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1309074 C8g complement C8 gamma chain gene DOID:3652 Leigh disease ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1309074 C8g complement C8 gamma chain gene DOID:630 genetic disease ISO RGD:1319211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309074 C8g complement C8 gamma chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309074 C8g complement C8 gamma chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309075 Slc9c1 solute carrier family 9 member C1 gene DOID:630 genetic disease ISO RGD:1351436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:4109106 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:4109106 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:4109106 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:4109106 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0110994 Joubert syndrome 25 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0111934 immunodeficiency 38 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:0111935 immunodeficiency 16 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:4109106 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:630 genetic disease ISO RGD:4109106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:9002189 High Myopia ISO RGD:4109106 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:4109106 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:4109106 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309076 Slc35e2b solute carrier family 35, member E2B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:4109106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309077 Mrm3 mitochondrial rRNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309079 Dipk2a divergent protein kinase domain 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1603352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283809 1309079 Dipk2a divergent protein kinase domain 2A gene DOID:12849 autistic disorder ISO RGD:1603352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 1309079 Dipk2a divergent protein kinase domain 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603352 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309080 Gadd45b growth arrest and DNA-damage-inducible, beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1309080 Gadd45b growth arrest and DNA-damage-inducible, beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1309080 Gadd45b growth arrest and DNA-damage-inducible, beta gene DOID:37 skin disease ISO RGD:1319220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309080 Gadd45b growth arrest and DNA-damage-inducible, beta gene DOID:630 genetic disease ISO RGD:1319220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309080 Gadd45b growth arrest and DNA-damage-inducible, beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319220 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309080 Gadd45b growth arrest and DNA-damage-inducible, beta gene DOID:9007964 Arsenic Poisoning ISO RGD:1319220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309081 Col22a1 collagen type XXII alpha 1 chain gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1319222 D RGD:13831344|PMID:30541770 20190102 RGD DNA:SNPs:cds:multiple(human) 1309081 Col22a1 collagen type XXII alpha 1 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1319222 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1309081 Col22a1 collagen type XXII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309083 Clspn claspin gene DOID:0080600 COVID-19 ISO RGD:1319224 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309083 Clspn claspin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319224 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309083 Clspn claspin gene DOID:2661 myoepithelioma ISO RGD:1319224 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1309083 Clspn claspin gene DOID:630 genetic disease ISO RGD:1319224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:7240710 20200701 OMIM 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 PMID:25741868|PMID:27466185|PMID:28492532 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:7240710 20190315 OMIM 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 PMID:18614015|PMID:22019594|PMID:25741868|PMID:26741492|PMID:27623250|PMID:28492532|PMID:28639102|PMID:29531337|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:3652 Leigh disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395|PMID:9536098 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:630 genetic disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27623250|PMID:28492532|PMID:29531337|PMID:9536098 1309085 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395 1309086 Cd19 CD19 molecule gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1319228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1309086 Cd19 CD19 molecule gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 1309086 Cd19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:7240710 20190710 OMIM 1309086 Cd19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 PMID:16672701|PMID:17882224|PMID:21159371|PMID:21330302|PMID:24033266|PMID:25741868|PMID:28492532 1309086 Cd19 CD19 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1319228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 1309086 Cd19 CD19 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319228 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1309086 Cd19 CD19 molecule gene DOID:2583 agammaglobulinemia ISO RGD:1319228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 1309086 Cd19 CD19 molecule gene DOID:5419 schizophrenia ISO RGD:1319228 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309086 Cd19 CD19 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1319228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1309086 Cd19 CD19 molecule gene DOID:630 genetic disease ISO RGD:1319228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309086 Cd19 CD19 molecule gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1309087 Lrrc32 leucine rich repeat containing 32 gene DOID:1059 intellectual disability ISO RGD:1319230 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309087 Lrrc32 leucine rich repeat containing 32 gene DOID:630 genetic disease ISO RGD:1319230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309087 Lrrc32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:7240710 20201111 OMIM 1309087 Lrrc32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay PMID:25741868|PMID:30976112 1309087 Lrrc32 leucine rich repeat containing 32 gene DOID:9008086 Developmental Disabilities ISO RGD:1319230 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976112 1309088 Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:2843 long QT syndrome ISO RGD:1319231 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1309088 Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:630 genetic disease ISO RGD:1319231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309089 Lsg1 large 60S subunit nuclear export GTPase 1 gene DOID:630 genetic disease ISO RGD:1605064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309089 Lsg1 large 60S subunit nuclear export GTPase 1 gene DOID:9000998 Brain Injuries ISO RGD:1605064 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 1309090 Mrpl27 mitochondrial ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:1319233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309091 C1r complement C1r gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1309091 C1r complement C1r gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1319235 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1309091 C1r complement C1r gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1319235 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1309091 C1r complement C1r gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319235 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1309091 C1r complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:7240710 20190315 OMIM 1309091 C1r complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:12776252|PMID:2260589|PMID:22739343|PMID:25741868|PMID:27663155|PMID:27745832|PMID:33268848|PMID:34324282|PMID:890102 1309091 C1r complement C1r gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:12776252|PMID:2260589|PMID:22739343|PMID:27663155|PMID:27745832|PMID:890102 1309091 C1r complement C1r gene DOID:0111621 Temtamy syndrome ISO RGD:1319235 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1309091 C1r complement C1r gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1319235 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome 1309091 C1r complement C1r gene DOID:289 endometriosis ISO RGD:1319235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1309091 C1r complement C1r gene DOID:8725 vascular dementia ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848|PMID:35307828 1309091 C1r complement C1r gene DOID:9003565 Paratuberculosis ISO RGD:1319235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 1309091 C1r complement C1r gene DOID:9007096 Stroke ISO RGD:1319235 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 1309091 C1r complement C1r gene DOID:9007692 Insulin Resistance ISO RGD:1319235 D RGD:1600551|PMID:17244723 20070313 RGD protein:increased expression:adipocyte 1309091 C1r complement C1r gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319235 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1309092 Slc36a3 solute carrier family 36, member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309092 Slc36a3 solute carrier family 36, member 3 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1319236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 1309092 Slc36a3 solute carrier family 36, member 3 gene DOID:630 genetic disease ISO RGD:1319236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309092 Slc36a3 solute carrier family 36, member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309094 Toe1 target of EGR1, exonuclease gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309094 Toe1 target of EGR1, exonuclease gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319240 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28092684 1309094 Toe1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:7240710 20190315 OMIM 1309094 Toe1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:21594990|PMID:25741868|PMID:28092684|PMID:28492532 1309094 Toe1 target of EGR1, exonuclease gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1319240 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36988593|PMID:9536098 1309094 Toe1 target of EGR1, exonuclease gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319240 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309094 Toe1 target of EGR1, exonuclease gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309094 Toe1 target of EGR1, exonuclease gene DOID:10534 stomach cancer ISO RGD:1319240 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:14618256|PMID:22473953|PMID:25741868|PMID:28492532|PMID:36988593 1309094 Toe1 target of EGR1, exonuclease gene DOID:1520 colon carcinoma ISO RGD:1319240 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18271935|PMID:25741868|PMID:28492532 1309094 Toe1 target of EGR1, exonuclease gene DOID:630 genetic disease ISO RGD:1319240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098 1309094 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 1309094 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098 1309095 Tex30 testis expressed 30 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 1309095 Tex30 testis expressed 30 gene DOID:14701 propionic acidemia ISO RGD:1605014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1309095 Tex30 testis expressed 30 gene DOID:630 genetic disease ISO RGD:1605014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309095 Tex30 testis expressed 30 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605014 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1309095 Tex30 testis expressed 30 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 1309096 Bcl9l BCL9 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309096 Bcl9l BCL9 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1309096 Bcl9l BCL9 like gene DOID:0080690 RASopathy ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1309096 Bcl9l BCL9 like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319242 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1309096 Bcl9l BCL9 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1319242 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1309096 Bcl9l BCL9 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309096 Bcl9l BCL9 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309096 Bcl9l BCL9 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309096 Bcl9l BCL9 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309096 Bcl9l BCL9 like gene DOID:630 genetic disease ISO RGD:1319242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309096 Bcl9l BCL9 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319242 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309096 Bcl9l BCL9 like gene DOID:9007661 Dwarfism ISO RGD:1319242 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309097 Fibcd1 fibrinogen C domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309097 Fibcd1 fibrinogen C domain containing 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319244 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1309097 Fibcd1 fibrinogen C domain containing 1 gene DOID:630 genetic disease ISO RGD:1319244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319246 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1319246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319246 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:10126 keratoconus ISO RGD:1319246 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:630 genetic disease ISO RGD:1319246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309098 Ptk6 protein tyrosine kinase 6 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1309099 Dnal4 dynein, axonemal, light chain 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1309099 Dnal4 dynein, axonemal, light chain 4 gene DOID:630 genetic disease ISO RGD:1319248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309099 Dnal4 dynein, axonemal, light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:7240710 20161026 OMIM 1309099 Dnal4 dynein, axonemal, light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Mirror movements 3 PMID:25098561 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30859559 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:30368668|PMID:33258288|PMID:33587123 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive PMID:16199547|PMID:17576681|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28135719|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31182298|PMID:31438995|PMID:31883238|PMID:32623905|PMID:33897756|PMID:35391499|PMID:9536098 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10 PMID:16356934|PMID:18948947|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28017249|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31182298|PMID:31533111|PMID:31825158|PMID:32041611|PMID:32981126|PMID:33258288|PMID:33413596|PMID:33587123 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0080174 bladder exstrophy ISO RGD:1319250 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bladder exstrophy PMID:28492532 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0080690 RASopathy ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:16356934|PMID:24362817|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28492532|PMID:29409008|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31438995|PMID:31533111|PMID:31825158|PMID:33258288|PMID:33587123 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319250 D RGD:151893464|PMID:29069277 20220420 RGD mRNA:altered expression:stomach, tumor (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:1059 intellectual disability ISO RGD:1319250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:11372 megacolon ISO RGD:1319250 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319250 D RGD:151708727|PMID:32004086 20220415 RGD DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:12849 autistic disorder ISO RGD:1319250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:12849 autistic disorder ISO RGD:1319250 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:1826 epilepsy ISO RGD:1319250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:151708722|PMID:23917401 20220415 RGD DNA:mutations:multiple (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3192 neurilemmoma ISO RGD:1319250 D RGD:151676717|PMID:24362817 20220413 RGD DNA:missense mutation:cds,multiple (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362817 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:151708704|PMID:29409008 20220414 RGD DNA:multiple:multiple (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:151708708|PMID:28365909 20220414 RGD DNA:multiple:multiple (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:151708709|PMID:25480913 20220414 RGD DNA, protein:multiple, multiple:multiple, blood (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis ISO RGD:1319250 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 PMID:16199547|PMID:17576681|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26803811|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28191889|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31533111|PMID:31825158|PMID:31980526|PMID:32371905|PMID:32443592|PMID:32981126|PMID:33258288|PMID:33413596|PMID:34184824|PMID:35453828|PMID:35806449|PMID:35979676|PMID:9536098 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 neurilemmomatosis susceptibility ISO RGD:1319250 D RGD:7240710 20230517 OMIM 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319250 D RGD:151667911|PMID:30872527 20220412 RGD DNA:missense mutations:cds:R210X, c.2220-17C-A (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319250 D RGD:151708718|PMID:31825158 20220415 RGD DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:30368668|PMID:33258288|PMID:33587123 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319251 D RGD:151667909|PMID:32175818 20220412 RGD 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:5419 schizophrenia ISO RGD:1319250 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319250 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1319250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:630 genetic disease ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16356934|PMID:18072270|PMID:18948947|PMID:19582488|PMID:22105938|PMID:23401320|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27472264|PMID:28295212|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31573083|PMID:31825158 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319250 D RGD:151893487|PMID:28622513 20220421 RGD DNA:missense mutation:cds, liver (human) 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1319250 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:25741868|PMID:25795793|PMID:28492532|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31825158 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319250 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007096 Stroke ISO RGD:1319250 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28191889|PMID:28492532 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis PMID:25303977|PMID:25741868|PMID:28492532|PMID:32981126|PMID:33258288 1309100 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9008582 Developmental Disease ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:24362817|PMID:25741868|PMID:27921248|PMID:28492532|PMID:29409008|PMID:31128261|PMID:31438995 1309101 Cep68 centrosomal protein 68 gene DOID:0060224 atrial fibrillation ISO RGD:1319252 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1309101 Cep68 centrosomal protein 68 gene DOID:630 genetic disease ISO RGD:1319252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309102 Trappc8 trafficking protein particle complex subunit 8 gene DOID:1059 intellectual disability ISO RGD:1319254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309102 Trappc8 trafficking protein particle complex subunit 8 gene DOID:630 genetic disease ISO RGD:1319254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309103 Sec23a Sec23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17981132 1309103 Sec23a Sec23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:7240710 20130221 OMIM 1309103 Sec23a Sec23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniolenticulosutural dysplasia PMID:16980979|PMID:17576681|PMID:17981132|PMID:21039434|PMID:22298774|PMID:25741868|PMID:28492532|PMID:34580982|PMID:9536098 1309103 Sec23a Sec23 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309103 Sec23a Sec23 homolog A, COPII coat complex component gene DOID:8398 osteoarthritis ISO RGD:1354109 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1309103 Sec23a Sec23 homolog A, COPII coat complex component gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354109 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309104 RGD1309104 similar to RIKEN cDNA 1700025G04 gene gene DOID:0080600 COVID-19 ISO RGD:1319257 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309104 RGD1309104 similar to RIKEN cDNA 1700025G04 gene gene DOID:1540 parathyroid carcinoma ISO RGD:1319257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309104 RGD1309104 similar to RIKEN cDNA 1700025G04 gene gene DOID:630 genetic disease ISO RGD:1319257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309104 RGD1309104 similar to RIKEN cDNA 1700025G04 gene gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309104 RGD1309104 similar to RIKEN cDNA 1700025G04 gene gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319257 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319259 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:1540 parathyroid carcinoma ISO RGD:1319259 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:9536098 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:630 genetic disease ISO RGD:1319259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:9000374 Mitochondrial Complex IV Deficiency, Nuclear Type 11 ISO RGD:1319259 D RGD:7240710 20201111 OMIM 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:9000374 Mitochondrial Complex IV Deficiency, Nuclear Type 11 ISO RGD:1319259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 PMID:17576681|PMID:23125284|PMID:24202787|PMID:25741868|PMID:28492532|PMID:30656193|PMID:31079202|PMID:32827528|PMID:33751098|PMID:36136859|PMID:9536098 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:9536098 1309105 Cox20 cytochrome c oxidase assembly factor COX20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319259 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309106 RGD1309106 similar to hypothetical protein gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1603371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 1309106 RGD1309106 similar to hypothetical protein gene DOID:1540 parathyroid carcinoma ISO RGD:1603371 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309106 RGD1309106 similar to hypothetical protein gene DOID:630 genetic disease ISO RGD:1603371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309106 RGD1309106 similar to hypothetical protein gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1309106 RGD1309106 similar to hypothetical protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603371 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1309106 RGD1309106 similar to hypothetical protein gene DOID:9008086 Developmental Disabilities ISO RGD:1603371 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 1309106 RGD1309106 similar to hypothetical protein gene DOID:9008386 Hydrops Fetalis ISO RGD:1603371 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1309106 RGD1309106 similar to hypothetical protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603371 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309107 Arhgap11a Rho GTPase activating protein 11A gene DOID:630 genetic disease ISO RGD:1602334 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309107 Arhgap11a Rho GTPase activating protein 11A gene DOID:684 hepatocellular carcinoma ISO RGD:1602334 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309107 Arhgap11a Rho GTPase activating protein 11A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602334 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309107 Arhgap11a Rho GTPase activating protein 11A gene DOID:9256 colorectal cancer ISO RGD:1602334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 1309108 Jhy junctional cadherin complex regulator gene DOID:5419 schizophrenia ISO RGD:1605626 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309108 Jhy junctional cadherin complex regulator gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605626 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309108 Jhy junctional cadherin complex regulator gene DOID:9007661 Dwarfism ISO RGD:1605626 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1319264 D RGD:1601068|PMID:7849702 20070405 RGD XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X, 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18470933|PMID:18510925|PMID:18578568|PMID:18637129|PMID:19085937|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26577220|PMID:26689913|PMID:26884178|PMID:26957611|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:30919937|PMID:31937902|PMID:31980526|PMID:32830346|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319264 D RGD:11252197|PMID:25154760 20160628 RGD 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319264 D RGD:11075607|PMID:26482462 20160628 RGD DNA:SNP: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319264 D RGD:1601069|PMID:9195225 20070405 RGD trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:1601070|PMID:11443545 20070405 RGD DNA:missense mutations:p.R616W, p.D681N (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:7240710 20130425 OMIM 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:16054878|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25741868|PMID:26344056|PMID:26556299|PMID:26577220|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28492532|PMID:28749383|PMID:29169765|PMID:29478780|PMID:31282071|PMID:31803976|PMID:31937902|PMID:32047639|PMID:32830346|PMID:33095795|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110698 hypotrichosis 1 ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:19931493|PMID:20944642|PMID:23039039|PMID:23232694|PMID:24033266|PMID:25620205|PMID:25741868|PMID:28492532|PMID:31282071|PMID:31803976|PMID:7920640|PMID:8571952|PMID:9238033|PMID:9651581 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:7240710 20130425 OMIM 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:11156600|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12458209|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22572993|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23276657|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31937902|PMID:31980526|PMID:32047639|PMID:32830346|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1319265 D RGD:10401081|PMID:23046824 20150924 RGD DNA:missense mutation: :p.R722W (mouse) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1319265 D RGD:12880441|PMID:10416615 20170508 RGD 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:7240710 20130425 OMIM 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16199547|PMID:17576681|PMID:18470933|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26884178|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31980526|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:5688739|PMID:17695467 20120302 RGD DNA:missense mutation:cds:p.D312N (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:8657136|PMID:24649009 20170508 RGD DNA:polymorphism:exon:p.R156R(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1319264 D RGD:155260342|PMID:30417012 20221004 RGD mRNA:increased expression:stomach (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1319264 D RGD:11340202|PMID:26499900 20160629 RGD DNA:SNP:exon:p.K751Q (2251A>C) (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1319264 D RGD:155260339|PMID:27340861 20221003 RGD DNA:SNP:intron: (rs50871) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:11335038|PMID:11709541|PMID:19085937|PMID:19934020|PMID:20633800|PMID:24728327|PMID:25741868|PMID:27504877|PMID:28492532|PMID:9238033 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1319264 D RGD:5688738|PMID:9714461 20120302 RGD protein:increased expression:brain 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791|PMID:27111033 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1319264 D RGD:11252208|PMID:25316812 20160628 RGD 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum IEP D RGD:2302855|PMID:9763211 20150924 RGD mRNA:increased expression:brain 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12603 acute leukemia ISO RGD:1319264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified PMID:15982307|PMID:22234153|PMID:23221806|PMID:23232694|PMID:24728327|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12689 acoustic neuroma susceptibility ISO RGD:1319264 D RGD:5688735|PMID:20150366 20120302 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1319264 D RGD:5688738|PMID:9714461 20120302 RGD protein:increased expression:brain 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1319264 D RGD:12880387|PMID:15598761 20170505 RGD DNA:haplotype:cds:6540G>A(D312N),18880A>C(p.K751Q)(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:2317223|PMID:18544627 20100322 RGD pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:2317228|PMID:16458430 20100322 RGD DNA,protein:SNPs:exons:rs1799793,rs1052559(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer treatment ISO RGD:1319264 D RGD:11252206|PMID:21404106 20160628 RGD 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1909 melanoma disease_progression ISO RGD:1319264 D RGD:12880434|PMID:21390047 20170508 RGD DNA:polymorphism:exon:p.K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2152 ovary epithelial cancer severity ISO RGD:1319264 D RGD:5688741|PMID:19786980 20120302 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11242112|PMID:11585917|PMID:12820975|PMID:24728327|PMID:25431422|PMID:25741868|PMID:26344056|PMID:28492532|PMID:8571952|PMID:9238033 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2960 photosensitive trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2960 photosensitive trichothiodystrophy ISS RGD:1319265 D RGD:13592920 20180518 MouseDO OMIM:601675 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1319265 D RGD:10401080|PMID:16904611 20150924 RGD associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1319264 D RGD:10401082|PMID:11319176 20150924 RGD 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3376 bone osteosarcoma ISO RGD:1319264 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3393 coronary artery disease susceptibility ISO RGD:1319264 D RGD:12880440|PMID:27566080 20170508 RGD DNA:SNP: :rs13181(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease susceptibility ISO RGD:1319264 D RGD:12880437|PMID:19834688 20170508 RGD associated with Arsenic Poisoning;DNA:polymorphism:cds:35931A>C(p. K751Q)(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319264 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1319264 D RGD:12880391|PMID:25596702 20170505 RGD DNA:polymorphism:cds:p.K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1319264 D RGD:153323316|PMID:28924235 20221004 RGD DNA:SNPs:multiple (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4448 macular degeneration susceptibility ISO RGD:1319264 D RGD:10401085|PMID:20375340 20150924 RGD DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4971 myelofibrosis no_association ISO RGD:1319264 D RGD:11252191|PMID:23716550 20160628 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443545|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:18470933|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29478780|PMID:29607586|PMID:30136158|PMID:31980526|PMID:33199492|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:635 acquired immunodeficiency syndrome susceptibility ISO RGD:1319264 D RGD:5688740|PMID:20127180 20170508 RGD DNA:polymorphism:exon:p.K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319264 D RGD:150530503|PMID:28927037 20211214 RGD DNA:SNP:cd: 312A>G (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:25671459|PMID:19919686 20200427 RGD DNA:SNPs:exon 23: p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:25671460|PMID:25531380 20200427 RGD DNA:SNPs:exon 23: p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:25671461|PMID:28598207 20200427 RGD DNA:SNPs:exon 23: p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:687 hepatoblastoma ISO RGD:1319264 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532|PMID:29178624 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:83 cataract ISO RGD:1319265 D RGD:12880390|PMID:25951169 20170505 RGD DNA:mutation:cds:c.2209T>C (p.S37P) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:11060463|PMID:25311495 20160628 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:11252188|PMID:24955348 20160628 RGD DNA:polymorphism: :p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1319264 D RGD:5688734|PMID:21283657 20120302 RGD DNA:SNP: :p.D312N (rs1799793) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17009404 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001946 Skin Abnormalities ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319264 D RGD:11252203|PMID:22739018 20160628 RGD DNA:SNP: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1319264 D RGD:11252204|PMID:19484764 20160628 RGD DNA:SNP: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17695467 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1319264 D RGD:11252176|PMID:25881102 20160628 RGD DNA:SNP: :rs1799793(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9003386 Sunburn ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1319264 D RGD:11098572|PMID:21047201 20160629 RGD associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004814 Chromosome Aberrations susceptibility ISO RGD:1319264 D RGD:12880393|PMID:17050553 20170505 RGD associated with arsenic induced Hyperkeratosis; DNA:polymorphism:cds:p. K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1319264 D RGD:1331525|PMID:15118671 19990101 GAD 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1319264 D RGD:12880386|PMID:17498557 20170505 RGD DNA:haplotype:cds:p.K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005463 Occupational Diseases ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16889696 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005622 Congenital Ichthyosis with Trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:15982307|PMID:19931493|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006169 Head and Neck Neoplasms severity ISO RGD:1319264 D RGD:11573297|PMID:26659720 20170508 RGD mRNA:increased expression: : 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:11252178|PMID:17197435 20160628 RGD associated with Leukemia, Myeloid, Acute;DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:11252202|PMID:15339847 20160628 RGD DNA:SNP: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1319264 D RGD:8552678|PMID:17290401 20140425 RGD DNA:polymorphisms:cds:p.D312N,K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007659 Anthracycline-induced Cardiotoxicity ISO RGD:1319264 D RGD:11252190|PMID:24284041 20160705 RGD associated with Leukemia, Myeloid, Acute;DNA:SNP:exon:p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1319264 D RGD:12880439|PMID:26349749 20170508 RGD DNA:polymorphism:exon:p.R156R(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18267032 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319264 D RGD:11340203|PMID:19307510 20160629 RGD DNA:SNP:exon:p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1319264 D RGD:11252198|PMID:22496165 20160628 RGD associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:11252173|PMID:20141440 20160628 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:11252209|PMID:21394217 20160628 RGD DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1319264 D RGD:11252193|PMID:23397959 20160628 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1319264 D RGD:155260343|PMID:16951227 20221004 RGD mRNA:increased expression:colorectum (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9538 multiple myeloma disease_progression ISO RGD:1319264 D RGD:11252199|PMID:22183071 20160628 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:1319264 D RGD:8552678|PMID:17290401 20140425 RGD DNA:polymorphism:cds:p.K751Q(human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract no_association ISO RGD:1319264 D RGD:10401083|PMID:21599457 20150924 RGD DNA:missense mutation:cds:p.K751Q (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract susceptibility ISO RGD:1319264 D RGD:10401084|PMID:24868140 20150924 RGD DNA:missense mutation:cds:p.D312N (human) 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1319264 D RGD:11340201|PMID:21987080 20160629 RGD DNA:haplotype 1309109 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1319264 D RGD:11252192|PMID:19101034 20160628 RGD DNA:missense mutations: :p.D312N, p.K751Q (human) 1309111 Dym dymeclin gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1350887 D RGD:11554173 20221129 CTD CTD Direct Evidence: marker/mechanism 1309111 Dym dymeclin gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia PMID:25741868|PMID:28492532 1309111 Dym dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:7240710 20221123 OMIM 1309111 Dym dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 1 PMID:12491225|PMID:16097008|PMID:18996921|PMID:19005420|PMID:25741868|PMID:28492532 1309111 Dym dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:7240710 20130221 OMIM 1309111 Dym dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:12161821|PMID:12491225|PMID:12554689|PMID:16097008|PMID:16199547|PMID:18996921|PMID:22090722|PMID:25741868|PMID:28492532|PMID:32886330 1309111 Dym dymeclin gene DOID:10283 prostate cancer ISO RGD:1350887 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309111 Dym dymeclin gene DOID:1059 intellectual disability ISO RGD:1350887 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309111 Dym dymeclin gene DOID:2256 osteochondrodysplasia ISO RGD:1350887 D RGD:1598787|PMID:12491225 20061219 RGD 1309111 Dym dymeclin gene DOID:5419 schizophrenia ISO RGD:1350887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1309111 Dym dymeclin gene DOID:630 genetic disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532 1309111 Dym dymeclin gene DOID:65 connective tissue disease ISO RGD:1350887 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:0050753 cerebellar ataxia ISO RGD:12062566 D RGD:9068941 20210604 OMIA Ataxia, cerebellar, juvenile to adolescent, RAB24-related PMID:11043686|PMID:24516392|PMID:3973637|PMID:6502189|PMID:7341602|PMID:7440348 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1344346 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs1128287) C>A (human) 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344346 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344346 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1309112 Rab24 RAB24, member RAS oncogene family gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344346 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1309113 Hoxb13 homeo box B13 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1319269 D RGD:2314726|PMID:19250546 20091124 RGD DNA:hypermethylation 1309113 Hoxb13 homeo box B13 gene DOID:10283 prostate cancer ISO RGD:1319269 D RGD:2314731|PMID:15583692 20091124 RGD mRNA:increased expression:prostate gland 1309113 Hoxb13 homeo box B13 gene DOID:10534 stomach cancer ISO RGD:1319269 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532|PMID:36988593 1309113 Hoxb13 homeo box B13 gene DOID:1380 endometrial cancer ISO RGD:1319269 D RGD:2314730|PMID:15756448 20091124 RGD 1309113 Hoxb13 homeo box B13 gene DOID:1909 melanoma ISO RGD:1319269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 1309113 Hoxb13 homeo box B13 gene DOID:4362 cervical cancer ISO RGD:1319269 D RGD:2314728|PMID:16803519 20091124 RGD mRNA:increased expression:uterine cervix 1309113 Hoxb13 homeo box B13 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1319269 D RGD:2314729|PMID:16278676 20091124 RGD DNA:hypermethylation 1309113 Hoxb13 homeo box B13 gene DOID:4905 pancreatic carcinoma ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 1309113 Hoxb13 homeo box B13 gene DOID:630 genetic disease ISO RGD:1319269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309113 Hoxb13 homeo box B13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319269 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:23104005|PMID:24239177|PMID:24390282|PMID:26457646|PMID:32690948|PMID:35468964 1309113 Hoxb13 homeo box B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:7240710 20190315 OMIM 1309113 Hoxb13 homeo box B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 9 PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32546843|PMID:8756292 1309113 Hoxb13 homeo box B13 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1309113 Hoxb13 homeo box B13 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1309113 Hoxb13 homeo box B13 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22236224 1309113 Hoxb13 homeo box B13 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 1309113 Hoxb13 homeo box B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32546843|PMID:8756292|PMID:9536098 1309113 Hoxb13 homeo box B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 1309113 Hoxb13 homeo box B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 1309113 Hoxb13 homeo box B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22423909|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23104005|PMID:23129385|PMID:23292082|PMID:23457453|PMID:23518396|PMID:23535732|PMID:24026887|PMID:24148311|PMID:24497837|PMID:24550738|PMID:24740154|PMID:24818853|PMID:25206306|PMID:25629170|PMID:25741868|PMID:25874003|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26604137|PMID:26845104|PMID:26967244|PMID:27153395|PMID:27262462|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27814745|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28598379|PMID:28798948|PMID:29181843|PMID:29740894|PMID:29892050|PMID:29915322|PMID:30397198|PMID:30527799|PMID:30560549|PMID:30665703|PMID:30777372|PMID:31214711|PMID:31226226|PMID:31556563|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:8756292|PMID:9536098 1309113 Hoxb13 homeo box B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34799695|PMID:35031163|PMID:36988593|PMID:8756292|PMID:9536098 1309113 Hoxb13 homeo box B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1309113 Hoxb13 homeo box B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:2314726|PMID:19250546 20091124 RGD DNA:hypermethylation 1309113 Hoxb13 homeo box B13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319269 D RGD:2314727|PMID:17453342 20091124 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia ISO RGD:1319271 D RGD:10450533|PMID:11110716 20160115 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia ISO RGD:1319271 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:24753537|PMID:26324699|PMID:28492532|PMID:32581362 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia disease_progression ISO RGD:1319271 D RGD:10450485|PMID:16985178 20160114 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319271 D RGD:10450504|PMID:12670333 20160114 RGD Protein:decreased expression:CD34++ cell: 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319271 D RGD:10450471|PMID:15644419 20160113 RGD DNA:SNP:cds:p.E785K(human) 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:10450482|PMID:24081659 20160114 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:10450483|PMID:23604229 20160114 RGD DNA:mutation:exon:p.T618I(human) 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1319271 D RGD:10450469|PMID:23774674 20160113 RGD DNA:mutations:multiples: 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:7240710 20220406 OMIM 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary neutrophilia PMID:12203110|PMID:19620628|PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319271 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:7240710 20190315 OMIM 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency PMID:10449521|PMID:16199547|PMID:17576681|PMID:23604229|PMID:23634996|PMID:23656643|PMID:24033266|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24753537|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26324699|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30028820|PMID:30348809|PMID:30967555|PMID:31309983|PMID:31321910|PMID:31697825|PMID:32581362|PMID:33108454|PMID:9536098 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:1485 cystic fibrosis ISO RGD:1319271 D RGD:5133738|PMID:19293384 20110628 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1319271 D RGD:10450501|PMID:23897249 20160114 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:552 pneumonia ISO RGD:1319271 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1319271 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:630 genetic disease ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1319272 D RGD:5133739|PMID:17185469 20110628 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:9001039 Leukocytosis ISO RGD:1319271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19620628 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:9001473 Severe Chronic Neutropenia ISO RGD:1319272 D RGD:10450484|PMID:9639496 20160114 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1319272 D RGD:10450470|PMID:21911095 20160113 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319271 D RGD:10450468|PMID:24746896 20160113 RGD 1309114 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1319271 D RGD:10450487|PMID:9001427 20160114 RGD associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: 1309115 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1309115 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1309115 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:10283 prostate cancer ISO RGD:1319273 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309115 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:4621 holoprosencephaly ISO RGD:1319273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1309115 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:630 genetic disease ISO RGD:1319273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0050777 Joubert syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:7240710 20190315 OMIM 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 PMID:25741868|PMID:28492532|PMID:29576219 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:3652 Leigh disease ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:1319275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309116 Mrps2 mitochondrial ribosomal protein S2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1309117 Rab2b RAB2B, member RAS oncogene family gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1319277 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 1309117 Rab2b RAB2B, member RAS oncogene family gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1319277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1309117 Rab2b RAB2B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309117 Rab2b RAB2B, member RAS oncogene family gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0050553 JMP syndrome ISO RGD:1319281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:24033266|PMID:33220177 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:7240710 20210505 OMIM 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14 PMID:24033266|PMID:25741868|PMID:33220177 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:10907 microcephaly ISS RGD:1319282 D RGD:13592920 20211028 MouseDO 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:630 genetic disease ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309119 Ppil1 peptidylprolyl isomerase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:33220177 1309120 Chac2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 gene DOID:630 genetic disease ISO RGD:1606619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309121 Fbxw11 F-box and WD repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1319284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309121 Fbxw11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:7240710 20201111 OMIM 1309121 Fbxw11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome PMID:25741868|PMID:28492532|PMID:31402090 1309122 Hspb9 heat shock protein family B (small) member 9 gene DOID:630 genetic disease ISO RGD:1319285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309122 Hspb9 heat shock protein family B (small) member 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319285 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31546644 1309123 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:10283 prostate cancer ISO RGD:1319287 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309123 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:2717 Bloom syndrome ISO RGD:1319287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309123 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:630 genetic disease ISO RGD:1319287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309123 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:9256 colorectal cancer ISO RGD:1319287 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309124 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319289 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309124 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:1059 intellectual disability ISO RGD:1319289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309124 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:630 genetic disease ISO RGD:1319289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309124 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319289 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1309124 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1319290 D RGD:13592920 20180518 MouseDO 1309125 Spcs1 signal peptidase complex subunit 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1309125 Spcs1 signal peptidase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309127 Fbxl16 F-box and leucine-rich repeat protein 16 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1309127 Fbxl16 F-box and leucine-rich repeat protein 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1309127 Fbxl16 F-box and leucine-rich repeat protein 16 gene DOID:1826 epilepsy ISO RGD:1319294 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309127 Fbxl16 F-box and leucine-rich repeat protein 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319294 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309127 Fbxl16 F-box and leucine-rich repeat protein 16 gene DOID:630 genetic disease ISO RGD:1319294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309128 Cnot6l CCR4-NOT transcription complex, subunit 6-like gene DOID:630 genetic disease ISO RGD:1319296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309128 Cnot6l CCR4-NOT transcription complex, subunit 6-like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1319296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0090006 renal coloboma syndrome ISO RGD:1319298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:7240710 20190315 OMIM 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 PMID:25741868|PMID:28492532|PMID:29429571 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:10652 Alzheimer's disease ISO RGD:1319298 D RGD:1358651|PMID:14570706 20181109 RGD 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:14330 Parkinson's disease ISO RGD:1319298 D RGD:13504667|PMID:26605748 20180116 RGD 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:3021 acute kidney failure IEP D RGD:13801199|PMID:22160772 20181105 RGD 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:37 skin disease ISO RGD:1319298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:630 genetic disease ISO RGD:1319298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9004484 Sepsis IDA D RGD:13801198|PMID:22952679 20181105 RGD 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:13801197|PMID:24096033 20181105 RGD 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1319299 D RGD:13801199|PMID:22160772 20181105 RGD 1309129 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9007964 Arsenic Poisoning ISO RGD:1319298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309131 Cert1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:7240710 20170510 OMIM 1309131 Cert1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 PMID:25533962|PMID:25741868 1309131 Cert1 ceramide transporter 1 gene DOID:1059 intellectual disability ISO RGD:1319300 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309131 Cert1 ceramide transporter 1 gene DOID:10907 microcephaly ISO RGD:1319300 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309131 Cert1 ceramide transporter 1 gene DOID:12849 autistic disorder ISO RGD:1319300 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25363768 1309131 Cert1 ceramide transporter 1 gene DOID:1826 epilepsy ISO RGD:1319300 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1309131 Cert1 ceramide transporter 1 gene DOID:3323 Sandhoff disease ISO RGD:1319300 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 1309131 Cert1 ceramide transporter 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1309131 Cert1 ceramide transporter 1 gene DOID:630 genetic disease ISO RGD:1319300 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17442665|PMID:23033978|PMID:25356899|PMID:25533962|PMID:28135719 1309131 Cert1 ceramide transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319300 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 1309131 Cert1 ceramide transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319300 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309131 Cert1 ceramide transporter 1 gene DOID:9005775 Perinatal Asphyxia IEP D RGD:156431056|PMID:23625371 20230302 RGD 1309132 Ppp1r3c protein phosphatase 1, regulatory subunit 3C gene DOID:10283 prostate cancer ISO RGD:1319302 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309132 Ppp1r3c protein phosphatase 1, regulatory subunit 3C gene DOID:630 genetic disease ISO RGD:1319302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309132 Ppp1r3c protein phosphatase 1, regulatory subunit 3C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309132 Ppp1r3c protein phosphatase 1, regulatory subunit 3C gene DOID:9352 type 2 diabetes mellitus ISS RGD:1319303 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 1309133 Pkp3 plakophilin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309133 Pkp3 plakophilin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1309133 Pkp3 plakophilin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309133 Pkp3 plakophilin 3 gene DOID:1227 neutropenia ISO RGD:1319304 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1309133 Pkp3 plakophilin 3 gene DOID:630 genetic disease ISO RGD:1319304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309133 Pkp3 plakophilin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319306 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:7240710 20170531 OMIM 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:16199547|PMID:17576681|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:25741868|PMID:26518167|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29039417|PMID:31980526|PMID:388431|PMID:7711739|PMID:9536098 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1319306 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11381270|PMID:12016587|PMID:20177705|PMID:25741868|PMID:27894351|PMID:28492532|PMID:32531858 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:1059 intellectual disability ISO RGD:1319306 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:11981 morbid obesity susceptibility ISO RGD:1319306 D RGD:1601311|PMID:17003356 20070416 RGD DNA:SNPs 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:23591405|PMID:24849935|PMID:25741868|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31980526|PMID:32531858|PMID:388431|PMID:7711739|PMID:9536098 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:2717 Bloom syndrome ISO RGD:1319306 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:3320 Tay-Sachs disease ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:5419 schizophrenia ISO RGD:1319306 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:630 genetic disease ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:8466 retinal degeneration severity ISO RGD:1319307 D RGD:11537379|PMID:23943788 20161003 RGD 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:8501 fundus dystrophy ISO RGD:1319306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11381270|PMID:12016587|PMID:16199547|PMID:17576681|PMID:20177705|PMID:27208204|PMID:27894351|PMID:28492532|PMID:9536098 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:9256 colorectal cancer ISO RGD:1319306 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:9970 obesity ISS RGD:1319307 D RGD:13592920 20180518 MouseDO OMIM:601665 1309134 Bbs4 Bardet-Biedl syndrome 4 gene DOID:9970 obesity onset ISO RGD:1319306 D RGD:1601311|PMID:17003356 20070416 RGD DNA:SNPs 1309135 Trappc3 trafficking protein particle complex subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319308 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309135 Trappc3 trafficking protein particle complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319308 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1309135 Trappc3 trafficking protein particle complex subunit 3 gene DOID:630 genetic disease ISO RGD:1319308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309138 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319312 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 1309138 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319312 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1309138 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1319312 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1309138 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:14330 Parkinson's disease ISO RGD:1319312 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1309138 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:630 genetic disease ISO RGD:1319312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309138 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319312 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309139 Cfap276 cilia and flagella associated protein 276 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISS RGD:1319313 D RGD:13592920 20201210 MouseDO 1309139 Cfap276 cilia and flagella associated protein 276 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1309139 Cfap276 cilia and flagella associated protein 276 gene DOID:12849 autistic disorder ISO RGD:1604538 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309140 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309140 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:1686 glaucoma treatment IDA D RGD:13782046|PMID:24136224 20180815 RGD 1309140 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309141 Osbpl7 oxysterol binding protein-like 7 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1319316 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 1309141 Osbpl7 oxysterol binding protein-like 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1319316 D RGD:41404644|PMID:21763455 20210129 RGD mRNA:increased expression:blood 1309141 Osbpl7 oxysterol binding protein-like 7 gene DOID:630 genetic disease ISO RGD:1319316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309142 Nfat5 nuclear factor of activated T-cells 5 gene DOID:0060031 autoimmune disease of gastrointestinal tract ISO RGD:1319318 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy PMID:28492532 1309142 Nfat5 nuclear factor of activated T-cells 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309142 Nfat5 nuclear factor of activated T-cells 5 gene DOID:630 genetic disease ISO RGD:1319318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309143 Dlk2 delta like non-canonical Notch ligand 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309143 Dlk2 delta like non-canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:1319320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309143 Dlk2 delta like non-canonical Notch ligand 2 gene DOID:905 Zellweger syndrome ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309144 Thnsl2 threonine synthase-like 2 gene DOID:630 genetic disease ISO RGD:1605368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309145 Ttf2 transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1319323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309146 Zfp622 zinc finger protein 622 gene DOID:630 genetic disease ISO RGD:1319325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309146 Zfp622 zinc finger protein 622 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319325 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1319326 D RGD:7240710 20130731 OMIM 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1319326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:11668429|PMID:12126933|PMID:15342707|PMID:15902555|PMID:17576681|PMID:18985435|PMID:20301646|PMID:20350831|PMID:23700088|PMID:24136862|PMID:24749080|PMID:25159689|PMID:25201222|PMID:25205859|PMID:25741868|PMID:26190011|PMID:27528516|PMID:27629047|PMID:28081242|PMID:28492532|PMID:9536098 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111433 optic atrophy 3 ISO RGD:1319326 D RGD:7240710 20130731 OMIM 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111433 optic atrophy 3 ISO RGD:1319326 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Optic atrophy 3 PMID:13703570|PMID:15342707|PMID:20301646|PMID:24136862|PMID:25159689|PMID:25205859|PMID:25741868|PMID:28081242|PMID:28492532 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111441 optic atrophy 1 ISO RGD:1319326 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Dominant 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:630 genetic disease ISO RGD:1319326 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309147 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1319326 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:31696227 1309148 Dmac1 distal membrane arm assembly component 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319327 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1309149 Ccnl2 cyclin L2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309149 Ccnl2 cyclin L2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319329 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1309149 Ccnl2 cyclin L2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319329 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309149 Ccnl2 cyclin L2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319329 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1309149 Ccnl2 cyclin L2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319329 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1309149 Ccnl2 cyclin L2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309149 Ccnl2 cyclin L2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309149 Ccnl2 cyclin L2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309149 Ccnl2 cyclin L2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319329 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309149 Ccnl2 cyclin L2 gene DOID:630 genetic disease ISO RGD:1319329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309149 Ccnl2 cyclin L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319329 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309149 Ccnl2 cyclin L2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319329 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309149 Ccnl2 cyclin L2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309150 Drc3 dynein regulatory complex subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1606494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1309150 Drc3 dynein regulatory complex subunit 3 gene DOID:0050777 Joubert syndrome ISO RGD:1606494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309150 Drc3 dynein regulatory complex subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606494 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1309150 Drc3 dynein regulatory complex subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606494 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1309150 Drc3 dynein regulatory complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1606494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309150 Drc3 dynein regulatory complex subunit 3 gene DOID:630 genetic disease ISO RGD:1606494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309151 Smndc1 survival motor neuron domain containing 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1319332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 1309151 Smndc1 survival motor neuron domain containing 1 gene DOID:630 genetic disease ISO RGD:1319332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309152 Jade2 jade family PHD finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309152 Jade2 jade family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1319333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309152 Jade2 jade family PHD finger 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319333 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1309152 Jade2 jade family PHD finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319333 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309152 Jade2 jade family PHD finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309152 Jade2 jade family PHD finger 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319333 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1309153 Smyd5 SMYD family member 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1319335 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1309153 Smyd5 SMYD family member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1309153 Smyd5 SMYD family member 5 gene DOID:543 dystonia ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309153 Smyd5 SMYD family member 5 gene DOID:630 genetic disease ISO RGD:1319335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309153 Smyd5 SMYD family member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309154 Cst7 cystatin F gene DOID:0080600 COVID-19 ISO RGD:1342542 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309154 Cst7 cystatin F gene DOID:630 genetic disease ISO RGD:1342542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309154 Cst7 cystatin F gene DOID:9000217 Stomach Neoplasms ISO RGD:1342542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0050553 JMP syndrome ISO RGD:1319338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0080600 COVID-19 ISO RGD:1319338 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:7240710 20130221 OMIM 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:8554872 20161115 ClinVar ClinVar Annotator: match by term: Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to PMID:15565110 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:1319338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:18349090 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:2841 asthma ISO RGD:1319338 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Asthma 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:289 endometriosis ISO RGD:1319338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:630 genetic disease ISO RGD:1319338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1319338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1319338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 1309155 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:1319338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 1309156 Ankrd13d ankyrin repeat domain 13D gene DOID:1059 intellectual disability ISO RGD:1605234 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309156 Ankrd13d ankyrin repeat domain 13D gene DOID:630 genetic disease ISO RGD:1605234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309156 Ankrd13d ankyrin repeat domain 13D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309156 Ankrd13d ankyrin repeat domain 13D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309157 Cdc6 cell division cycle 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1319341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358632 1309157 Cdc6 cell division cycle 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1319341 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1309157 Cdc6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:7240710 20190424 OMIM 1309157 Cdc6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 PMID:11477602|PMID:18414213|PMID:21358632|PMID:25741868|PMID:28492532 1309157 Cdc6 cell division cycle 6 gene DOID:0080600 COVID-19 ISO RGD:1319341 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309157 Cdc6 cell division cycle 6 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1319341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1309157 Cdc6 cell division cycle 6 gene DOID:10907 microcephaly ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1309157 Cdc6 cell division cycle 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309157 Cdc6 cell division cycle 6 gene DOID:630 genetic disease ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309157 Cdc6 cell division cycle 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1319341 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309158 Zfp655 zinc finger protein 655 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351627 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309158 Zfp655 zinc finger protein 655 gene DOID:630 genetic disease ISO RGD:1351627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309162 Gpr155 G protein-coupled receptor 155 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319348 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309162 Gpr155 G protein-coupled receptor 155 gene DOID:12849 autistic disorder ISO RGD:1319348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 1309162 Gpr155 G protein-coupled receptor 155 gene DOID:630 genetic disease ISO RGD:1319348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309162 Gpr155 G protein-coupled receptor 155 gene DOID:9005369 Hepatomegaly ISO RGD:1319348 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1309163 Ago3 argonaute RISC catalytic component 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319350 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309163 Ago3 argonaute RISC catalytic component 3 gene DOID:630 genetic disease ISO RGD:1319350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309164 Mrps7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:7240710 20190315 OMIM 1309164 Mrps7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25556185|PMID:25741868|PMID:28492532|PMID:9063420 1309164 Mrps7 mitochondrial ribosomal protein S7 gene DOID:10003 sensorineural hearing loss ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 1309164 Mrps7 mitochondrial ribosomal protein S7 gene DOID:630 genetic disease ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309164 Mrps7 mitochondrial ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1319351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1309165 Cldn14 claudin 14 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1319353 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11163249|PMID:15880785|PMID:22246673|PMID:25741868|PMID:30303587 1309165 Cldn14 claudin 14 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1309165 Cldn14 claudin 14 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1309165 Cldn14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:7240710 20140911 OMIM 1309165 Cldn14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:23590985|PMID:23991001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27838790|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33105617 1309165 Cldn14 claudin 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1319353 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1309165 Cldn14 claudin 14 gene DOID:10983 Alport syndrome ISO RGD:1319353 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:30311386 1309165 Cldn14 claudin 14 gene DOID:630 genetic disease ISO RGD:1319353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309165 Cldn14 claudin 14 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1319353 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 1309165 Cldn14 claudin 14 gene DOID:9002315 Kidney Calculi ISO RGD:1319353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19561606 1309165 Cldn14 claudin 14 gene DOID:9002802 Acidoses IEP D RGD:1600867|PMID:17383680 20070328 RGD mRNA:increased expression:duodenum 1309165 Cldn14 claudin 14 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1319353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 1309165 Cldn14 claudin 14 gene DOID:9004538 Hearing Loss ISO RGD:1319353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 1309165 Cldn14 claudin 14 gene DOID:9008681 Deafness ISO RGD:1319353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11163249 1309165 Cldn14 claudin 14 gene DOID:9008681 Deafness susceptibility ISO RGD:1319353 D RGD:1600866|PMID:11163249 20070328 RGD DNA:deletion, missense mutation: :398delT, p.V85D 1309166 Nlrc5 NLR family, CARD domain containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1309166 Nlrc5 NLR family, CARD domain containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1309166 Nlrc5 NLR family, CARD domain containing 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1309166 Nlrc5 NLR family, CARD domain containing 5 gene DOID:630 genetic disease ISO RGD:1604572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309166 Nlrc5 NLR family, CARD domain containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1604572 D RGD:15003194|PMID:27338800 20191107 RGD protein:increased expression:liver 1309166 Nlrc5 NLR family, CARD domain containing 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 1309167 Ripk2 receptor-interacting serine-threonine kinase 2 gene DOID:1024 leprosy ISO RGD:1319357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 1309167 Ripk2 receptor-interacting serine-threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1319357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309167 Ripk2 receptor-interacting serine-threonine kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:1319357 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 1309168 Trim45 tripartite motif-containing 45 gene DOID:630 genetic disease ISO RGD:1319359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309170 RGD1309170 similar to hypothetical protein DKFZp434G072 gene DOID:630 genetic disease ISO RGD:1352720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309172 Col6a6 collagen type VI alpha 6 chain gene DOID:0111947 immunodeficiency 21 ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1309172 Col6a6 collagen type VI alpha 6 chain gene DOID:630 genetic disease ISO RGD:3052729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309172 Col6a6 collagen type VI alpha 6 chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 1309172 Col6a6 collagen type VI alpha 6 chain gene DOID:9270 alkaptonuria ISO RGD:3052729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1309174 Rgr retinal G protein coupled receptor gene DOID:0050795 cone dystrophy ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10581022|PMID:25741868|PMID:27623334|PMID:28492532|PMID:30337596|PMID:34229535 1309174 Rgr retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:7240710 20140911 OMIM 1309174 Rgr retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 44 PMID:10581022|PMID:17576681|PMID:25741868|PMID:27623334|PMID:27748892|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30337596|PMID:30347075|PMID:33546218|PMID:34229535|PMID:9536098 1309174 Rgr retinal G protein coupled receptor gene DOID:10584 retinitis pigmentosa ISO RGD:1319366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10581022|PMID:16968212 1309174 Rgr retinal G protein coupled receptor gene DOID:10584 retinitis pigmentosa ISO RGD:1319366 D RGD:1599623|PMID:10581022 20070208 RGD 1309174 Rgr retinal G protein coupled receptor gene DOID:10584 retinitis pigmentosa ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10581022|PMID:16199547|PMID:24265693|PMID:25741868|PMID:28492532 1309174 Rgr retinal G protein coupled receptor gene DOID:630 genetic disease ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309174 Rgr retinal G protein coupled receptor gene DOID:8501 fundus dystrophy ISO RGD:1319366 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10581022|PMID:28041643 1309175 Mad2l1bp MAD2L1 binding protein gene DOID:0050444 infantile Refsum disease ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309175 Mad2l1bp MAD2L1 binding protein gene DOID:630 genetic disease ISO RGD:1319368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309175 Mad2l1bp MAD2L1 binding protein gene DOID:905 Zellweger syndrome ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:0111113 nephronophthisis 2 ISO RGD:1319370 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:1059 intellectual disability ISO RGD:1319370 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:12712 nephronophthisis ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:630 genetic disease ISO RGD:1319370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309176 Erp44 endoplasmic reticulum protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1309177 Glis2 GLIS family zinc finger 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:7240710 20130221 OMIM 1309177 Glis2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 7 PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1345602 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1345602 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309177 Glis2 GLIS family zinc finger 2 gene DOID:12712 nephronophthisis ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1345602 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1309177 Glis2 GLIS family zinc finger 2 gene DOID:1682 congenital heart disease ISO RGD:1345602 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1309177 Glis2 GLIS family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:557 kidney disease ISO RGD:1345602 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17618285 1309177 Glis2 GLIS family zinc finger 2 gene DOID:557 kidney disease ISO RGD:1345602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1345602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309177 Glis2 GLIS family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345602 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1309178 Upf2 UPF2, regulator of nonsense mediated mRNA decay gene DOID:0060041 autism spectrum disorder ISO RGD:1319373 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1309178 Upf2 UPF2, regulator of nonsense mediated mRNA decay gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319373 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1309178 Upf2 UPF2, regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1319373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309179 Hoxd1 homeo box D1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319375 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309179 Hoxd1 homeo box D1 gene DOID:630 genetic disease ISO RGD:1319375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309179 Hoxd1 homeo box D1 gene DOID:9000641 Pain ISO RGD:1319375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 1309179 Hoxd1 homeo box D1 gene DOID:9002211 Hyperalgesia ISO RGD:1319375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 1309179 Hoxd1 homeo box D1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 1309179 Hoxd1 homeo box D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1309181 Wdr47 WD repeat domain 47 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1309181 Wdr47 WD repeat domain 47 gene DOID:12849 autistic disorder ISO RGD:1343602 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 1309181 Wdr47 WD repeat domain 47 gene DOID:630 genetic disease ISO RGD:1343602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309183 Anks1a ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:0050553 JMP syndrome ISO RGD:1319381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309183 Anks1a ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:3393 coronary artery disease ISO RGD:1319381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 1309183 Anks1a ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:630 genetic disease ISO RGD:1319381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309184 Mppe1 metallophosphoesterase 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319383 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1309184 Mppe1 metallophosphoesterase 1 gene DOID:1059 intellectual disability ISO RGD:1319383 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309184 Mppe1 metallophosphoesterase 1 gene DOID:543 dystonia ISO RGD:1319383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1309184 Mppe1 metallophosphoesterase 1 gene DOID:630 genetic disease ISO RGD:1319383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309185 Gtf3c3 general transcription factor IIIC subunit 3 gene DOID:630 genetic disease ISO RGD:1319385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309185 Gtf3c3 general transcription factor IIIC subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:28940097|PMID:30552426 1309186 Mastl microtubule associated serine/threonine kinase-like gene DOID:1588 thrombocytopenia ISO RGD:1319386 D RGD:1598951|PMID:12890928 20070105 RGD 1309186 Mastl microtubule associated serine/threonine kinase-like gene DOID:1588 thrombocytopenia ISO RGD:1319386 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 1309186 Mastl microtubule associated serine/threonine kinase-like gene DOID:630 genetic disease ISO RGD:1319386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309186 Mastl microtubule associated serine/threonine kinase-like gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10891439|PMID:12890928|PMID:19460416|PMID:22102272|PMID:25741868|PMID:28492532 1309186 Mastl microtubule associated serine/threonine kinase-like gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 1309187 Bri3 brain protein I3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319388 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309187 Bri3 brain protein I3 gene DOID:630 genetic disease ISO RGD:1319388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309188 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1309188 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1309188 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:0111254 glutaric acidemia I ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1309188 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:13810 familial hypercholesterolemia ISO RGD:1602195 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 1309188 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:3413 alpha-mannosidosis ISO RGD:1602195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1309189 Fndc7 fibronectin type III domain containing 7 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604516 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1309189 Fndc7 fibronectin type III domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1604516 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309189 Fndc7 fibronectin type III domain containing 7 gene DOID:630 genetic disease ISO RGD:1604516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309190 Msh4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:7240710 20220706 OMIM 1309190 Msh4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 2 PMID:25741868|PMID:33437391|PMID:33448284|PMID:34755185|PMID:35090489 1309190 Msh4 mutS homolog 4 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33448284|PMID:34755185 1309190 Msh4 mutS homolog 4 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1319392 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 1309190 Msh4 mutS homolog 4 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319392 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:35090489 1309190 Msh4 mutS homolog 4 gene DOID:14228 oligospermia ISO RGD:1319392 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868|PMID:33448284 1309190 Msh4 mutS homolog 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319392 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33448284 1309190 Msh4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1309190 Msh4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35090489 1309190 Msh4 mutS homolog 4 gene DOID:630 genetic disease ISO RGD:1319392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309190 Msh4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:7240710 20220720 OMIM 1309190 Msh4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 20 PMID:25741868|PMID:28541421|PMID:33448284|PMID:34755185 1309191 Tbc1d10b TBC1 domain family, member 10b gene DOID:630 genetic disease ISO RGD:1607066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309192 Sdsl serine dehydratase-like gene DOID:630 genetic disease ISO RGD:1319395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309193 Slc7a6 solute carrier family 7 member 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309193 Slc7a6 solute carrier family 7 member 6 gene DOID:630 genetic disease ISO RGD:1319397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309195 Malt1 MALT1 paracaspase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 1309195 Malt1 MALT1 paracaspase gene DOID:0060058 lymphoma ISO RGD:1319401 D RGD:1599913|PMID:10523859 20070221 RGD 1309195 Malt1 MALT1 paracaspase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319401 D RGD:1599912|PMID:12560219 20070221 RGD 1309195 Malt1 MALT1 paracaspase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1319401 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1309195 Malt1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:7240710 20140911 OMIM 1309195 Malt1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23727036|PMID:24332264|PMID:25627829|PMID:25741868|PMID:27068814|PMID:28492532|PMID:35079916|PMID:9536098 1309195 Malt1 MALT1 paracaspase gene DOID:627 severe combined immunodeficiency ISO RGD:1319401 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 1309195 Malt1 MALT1 paracaspase gene DOID:630 genetic disease ISO RGD:1319401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309196 Foxo3 forkhead box O3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1309196 Foxo3 forkhead box O3 gene DOID:0050902 medulloblastoma ISO RGD:1319403 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 1309196 Foxo3 forkhead box O3 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1553155 D RGD:155630604|PMID:17254969 20221025 RGD 1309196 Foxo3 forkhead box O3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1309196 Foxo3 forkhead box O3 gene DOID:10283 prostate cancer ISO RGD:1319403 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) (human) 1309196 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:10402185|PMID:23153928 20151019 RGD protein:increased expression:lymphoblast,nucleus: 1309196 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:7327146|PMID:23585551 20151020 RGD mRNA:increased expression:brain: 1309196 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:10402187|PMID:23661003 20151019 RGD protein:altered expression:cortical neuron,nucleus: 1309196 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:11061905|PMID:28157684 20211120 RGD protein:increased expression:hippocampal neuron (mouse) 1309196 Foxo3 forkhead box O3 gene DOID:1824 status epilepticus ISO RGD:1553155 D RGD:10402198|PMID:23278239 20151020 RGD protein:decreased expression:hippocampus,mitochondrion: 1309196 Foxo3 forkhead box O3 gene DOID:255 hemangioma ISO RGD:1553155 D RGD:155630604|PMID:17254969 20221025 RGD 1309196 Foxo3 forkhead box O3 gene DOID:2870 endometrial adenocarcinoma severity ISO RGD:1319403 D RGD:11530998|PMID:26045339 20171026 RGD associated with Obesity;protein:decreased expression:endometrium (human) 1309196 Foxo3 forkhead box O3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319403 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 1309196 Foxo3 forkhead box O3 gene DOID:3328 temporal lobe epilepsy ISO RGD:1319403 D RGD:10402198|PMID:23278239 20151020 RGD protein:increased expression:hippocampus,mitochondrion: 1309196 Foxo3 forkhead box O3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 1309196 Foxo3 forkhead box O3 gene DOID:3910 lung adenocarcinoma ISO RGD:1319403 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 1309196 Foxo3 forkhead box O3 gene DOID:5082 liver cirrhosis ISO RGD:1319403 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:33372984 1309196 Foxo3 forkhead box O3 gene DOID:5117 dermoid cyst of ovary ISS RGD:1553155 D RGD:13592920 20180518 MouseDO OMIM:166950 1309196 Foxo3 forkhead box O3 gene DOID:5648 choroid plexus carcinoma ISO RGD:1319403 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 1309196 Foxo3 forkhead box O3 gene DOID:630 genetic disease ISO RGD:1319403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309196 Foxo3 forkhead box O3 gene DOID:7148 rheumatoid arthritis ISO RGD:1319403 D RGD:10402186|PMID:19435720 20151019 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: 1309196 Foxo3 forkhead box O3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10402202|PMID:22930444 20151020 RGD protein:decreased expression:spinal cord,neuron, astrocyte: 1309196 Foxo3 forkhead box O3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1319403 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 1309196 Foxo3 forkhead box O3 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10402203|PMID:24229603 20151020 RGD protein:increased expression:cerebral cortex,nucleus: 1309196 Foxo3 forkhead box O3 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2293330|PMID:18192848 20151020 RGD associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: 1309196 Foxo3 forkhead box O3 gene DOID:9004994 Embryo Loss ISO RGD:1319403 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 1309196 Foxo3 forkhead box O3 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1319403 D RGD:10402197|PMID:15662024 20151020 RGD 1309196 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10402196|PMID:17082237 20151020 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: 1309196 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10402199|PMID:12683947 20151020 RGD mRNA:decreased expression:liver: 1309196 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 1309196 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553155 D RGD:10402196|PMID:17082237 20151020 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: 1309196 Foxo3 forkhead box O3 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:10402197|PMID:15662024 20151020 RGD 1309196 Foxo3 forkhead box O3 gene DOID:9007479 Habitual Abortions ISO RGD:1319403 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 1309196 Foxo3 forkhead box O3 gene DOID:9970 obesity IEP D RGD:10402201|PMID:16467659 20151020 RGD protein:increased expression:myocardium: 1309196 Foxo3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1319403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 1309197 Zw10 zw10 kinetochore protein gene DOID:1059 intellectual disability ISO RGD:1319405 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309197 Zw10 zw10 kinetochore protein gene DOID:3347 osteosarcoma ISO RGD:1319405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 1309197 Zw10 zw10 kinetochore protein gene DOID:630 genetic disease ISO RGD:1319405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309197 Zw10 zw10 kinetochore protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319405 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309198 Snrnp40 small nuclear ribonucleoprotein U5 subunit 40 gene DOID:630 genetic disease ISO RGD:1606327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309199 Cir1 corepressor interacting with RBPJ, 1 gene DOID:0080600 COVID-19 ISO RGD:1602899 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1309199 Cir1 corepressor interacting with RBPJ, 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1602899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309199 Cir1 corepressor interacting with RBPJ, 1 gene DOID:630 genetic disease ISO RGD:1602899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309202 Dusp23 dual specificity phosphatase 23 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1309202 Dusp23 dual specificity phosphatase 23 gene DOID:1540 parathyroid carcinoma ISO RGD:1319412 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309202 Dusp23 dual specificity phosphatase 23 gene DOID:630 genetic disease ISO RGD:1319412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309202 Dusp23 dual specificity phosphatase 23 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319412 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309203 Phc1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:7240710 20140911 OMIM 1309203 Phc1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive PMID:23418308|PMID:25558065|PMID:25741868 1309203 Phc1 polyhomeotic homolog 1 gene DOID:1059 intellectual disability ISO RGD:1319414 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23418308|PMID:25558065 1309203 Phc1 polyhomeotic homolog 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1319415 D RGD:13592920 20180518 MouseDO 1309203 Phc1 polyhomeotic homolog 1 gene DOID:630 genetic disease ISO RGD:1319414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309203 Phc1 polyhomeotic homolog 1 gene DOID:6419 tetralogy of Fallot ISS RGD:1319415 D RGD:13592920 20180518 MouseDO OMIM:187500 1309203 Phc1 polyhomeotic homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1319414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 1309203 Phc1 polyhomeotic homolog 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319414 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1309204 Klf12 KLF transcription factor 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319416 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309204 Klf12 KLF transcription factor 12 gene DOID:303 substance-related disorder ISO RGD:1319416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1309204 Klf12 KLF transcription factor 12 gene DOID:5419 schizophrenia ISO RGD:1319416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1309204 Klf12 KLF transcription factor 12 gene DOID:630 genetic disease ISO RGD:1319416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309205 Ccnt2 cyclin T2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319417 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1309205 Ccnt2 cyclin T2 gene DOID:630 genetic disease ISO RGD:1319417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1059 intellectual disability ISO RGD:1319419 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:12849 autistic disorder ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1932 Angelman syndrome ISO RGD:1319419 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:5419 schizophrenia ISO RGD:1319419 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:7240710 20190315 OMIM 1309206 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1319421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:7240710 20190529 OMIM 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:8849014 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:630 genetic disease ISO RGD:1319421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:7240710 20191023 OMIM 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:35812758|PMID:8849014 1309207 Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309209 Ccni cyclin I gene DOID:630 genetic disease ISO RGD:1319424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309209 Ccni cyclin I gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1319424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1309210 Grtp1 growth hormone regulated TBC protein 1 gene DOID:2222 factor X deficiency ISO RGD:1319426 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1309210 Grtp1 growth hormone regulated TBC protein 1 gene DOID:630 genetic disease ISO RGD:1319426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1604278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358632 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1604278 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11992493|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1604278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604278 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1604278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:25741868 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:7240710 20190424 OMIM 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 PMID:11477602|PMID:11992493|PMID:16199547|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33338304 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:14780 KBG syndrome ISO RGD:1604278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:630 genetic disease ISO RGD:1604278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604278 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604278 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1309211 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1604278 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35048507 1309212 Cpne9 copine family member 9 gene DOID:2843 long QT syndrome ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1309212 Cpne9 copine family member 9 gene DOID:630 genetic disease ISO RGD:1604226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309212 Cpne9 copine family member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604226 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309212 Cpne9 copine family member 9 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604226 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:3631078|PMID:9536098 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:34193099|PMID:3631078|PMID:9536098 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1354325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:7240710 20200826 OMIM 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:30914273|PMID:31278392|PMID:31614862|PMID:9536098 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal skeletal dysplasia PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1354325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532|PMID:31278392|PMID:31614862 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1354325 D RGD:1599433|PMID:10473568 20070202 RGD DNA:transition:exon;808C>T 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1354325 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1354325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31614862 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354325 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1309214 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1309215 Rars1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:7240710 20170201 OMIM 1309215 Rars1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28905880|PMID:30791064|PMID:31737794|PMID:31814314|PMID:33515434 1309215 Rars1 arginyl-tRNA synthetase 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1319432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 1309215 Rars1 arginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1319432 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050771 pheochromocytoma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:28492532 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:31687641|PMID:6264239|PMID:6286462|PMID:9536098 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:1059 intellectual disability ISO RGD:1606278 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:2394 ovarian cancer ISO RGD:1606278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26016412|PMID:28492532|PMID:30050099 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:893 Wilson disease ISO RGD:1606278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:28492532 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:7240710 20131030 OMIM 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paragangliomas 2 PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:22241717|PMID:24414418|PMID:25741868|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:6264239|PMID:6286462|PMID:9536098 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19628817|PMID:20071235|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 1309216 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 1309217 Mrps33 mitochondrial ribosomal protein S33 gene DOID:0080690 RASopathy ISO RGD:1319435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1309217 Mrps33 mitochondrial ribosomal protein S33 gene DOID:3312 bipolar disorder ISO RGD:1319435 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1309217 Mrps33 mitochondrial ribosomal protein S33 gene DOID:630 genetic disease ISO RGD:1319435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:7240710 20140903 OMIM 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25077900|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532|PMID:6881209 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1319437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1309218 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309219 Ctdspl2 CTD small phosphatase like 2 gene DOID:2717 Bloom syndrome ISO RGD:1605073 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309219 Ctdspl2 CTD small phosphatase like 2 gene DOID:630 genetic disease ISO RGD:1605073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309219 Ctdspl2 CTD small phosphatase like 2 gene DOID:9256 colorectal cancer ISO RGD:1605073 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309220 Kansl3 KAT8 regulatory NSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1604339 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309220 Kansl3 KAT8 regulatory NSL complex subunit 3 gene DOID:5419 schizophrenia ISO RGD:1604339 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309220 Kansl3 KAT8 regulatory NSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309221 Eif3k eukaryotic translation initiation factor 3, subunit K gene DOID:630 genetic disease ISO RGD:1342979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0080690 RASopathy ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319442 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0110651 long QT syndrome 10 ISO RGD:1319442 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:7240710 20141015 OMIM 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar Annotator: match by term: Immunodeficiency 18, scid variant PMID:1370449|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1676369|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:8490660|PMID:9536098|PMID:9843989 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:1059 intellectual disability ISO RGD:1319442 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:2945 severe acute respiratory syndrome ISO RGD:1319442 D RGD:27372876|PMID:16237152 20200604 RGD protein:increased expression:Tcell, testis (human) 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:612 primary immunodeficiency disease ISO RGD:1319442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8490660 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:1319442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15546002 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:1319442 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:33628209 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:630 genetic disease ISO RGD:1319442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:7148 rheumatoid arthritis ISO RGD:1319442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319442 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:9005372 Inflammation ISO RGD:1319442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319443 D RGD:2314179|PMID:16628253 20091104 RGD 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:9007661 Dwarfism ISO RGD:1319442 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309222 Cd3e CD3 epsilon subunit of T-cell receptor complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319442 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1309224 Unk unk zinc finger gene DOID:630 genetic disease ISO RGD:1319446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309225 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:0060575 3MC syndrome 1 ISO RGD:1319448 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1309225 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:630 genetic disease ISO RGD:1319448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309225 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319448 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1309225 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319448 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309227 Mlh3 mutL homolog 3 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1319451 D RGD:8554872 20180501 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 1309227 Mlh3 mutL homolog 3 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:7240710 20141015 OMIM 1309227 Mlh3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:11586295|PMID:12702580|PMID:12800209|PMID:16199547|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18414213|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25142776|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26296701|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:29212164|PMID:29641532|PMID:29945567|PMID:30614234|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:34106356|PMID:34408140|PMID:9536098 1309227 Mlh3 mutL homolog 3 gene DOID:1059 intellectual disability ISO RGD:1319451 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309227 Mlh3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:7240710 20190213 OMIM 1309227 Mlh3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial cancer PMID:12702580|PMID:28195393 1309227 Mlh3 mutL homolog 3 gene DOID:1520 colon carcinoma ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11317354|PMID:35292633 1309227 Mlh3 mutL homolog 3 gene DOID:1612 breast cancer ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:2394 ovarian cancer ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:3459 breast carcinoma ISO RGD:1319451 D RGD:8554872 20170905 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868 1309227 Mlh3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12702580 1309227 Mlh3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:1600415|PMID:11586295 20070308 RGD DNA:point mutations:exon:Q24E, N499S, E624Q, E1451K 1309227 Mlh3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29212164 1309227 Mlh3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:12800209|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29212164 1309227 Mlh3 mutL homolog 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319451 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:630 genetic disease ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1319451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16981255 1309227 Mlh3 mutL homolog 3 gene DOID:9002704 Leukoencephalopathies ISO RGD:1319451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 1309227 Mlh3 mutL homolog 3 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1319451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 1309227 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33606809|PMID:33821390|PMID:9536098 1309227 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:9536098 1309227 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11317354|PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:34408140|PMID:35292633|PMID:9536098 1309227 Mlh3 mutL homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1319451 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 1309227 Mlh3 mutL homolog 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 1309227 Mlh3 mutL homolog 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 1309227 Mlh3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:7240710 20200226 OMIM 1309227 Mlh3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532|PMID:29212164 1309227 Mlh3 mutL homolog 3 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1319451 D RGD:153344543|PMID:29516665 20220824 RGD DNA:SNP:3'utr: (rs108621) 1309228 Slc35f6 solute carrier family 35, member F6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1309228 Slc35f6 solute carrier family 35, member F6 gene DOID:630 genetic disease ISO RGD:1319452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1319453 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1319453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:19226263|PMID:24498038|PMID:25741868 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1319454 D RGD:10047097|PMID:19187773 20150709 RGD 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1319453 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:7240710 20180314 OMIM 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 PMID:11967537|PMID:12765973|PMID:14557463|PMID:14715872|PMID:15181077|PMID:15629135|PMID:18414213|PMID:18640396|PMID:19026526|PMID:21744063|PMID:22831748|PMID:24498038|PMID:25195639|PMID:25741868|PMID:26072926|PMID:26336158|PMID:27144933|PMID:28492532|PMID:30319454|PMID:32117065 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:10283 prostate cancer ISO RGD:1319453 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1319453 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:3652 Leigh disease ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:811 lipodystrophy susceptibility ISO RGD:1319453 D RGD:1598785|PMID:11967537 20061219 RGD 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309229 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22831748|PMID:25741868|PMID:26336158|PMID:28492532|PMID:30319454 1309230 Wdr33 WD repeat domain 33 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1309230 Wdr33 WD repeat domain 33 gene DOID:630 genetic disease ISO RGD:1319455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309231 Emc6 ER membrane protein complex subunit 6 gene DOID:3613 Canavan disease ISO RGD:1606492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 1309231 Emc6 ER membrane protein complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309232 Dclk3 doublecortin-like kinase 3 gene DOID:630 genetic disease ISO RGD:1352758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309233 Srsf3 serine and arginine rich splicing factor 3 gene DOID:0050553 JMP syndrome ISO RGD:1319459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309233 Srsf3 serine and arginine rich splicing factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1319459 D RGD:11039469|PMID:23748175 20160304 RGD mRNA:increased expression:epithelium of female gonad (human) 1309233 Srsf3 serine and arginine rich splicing factor 3 gene DOID:3312 bipolar disorder ISO RGD:1319459 D RGD:11039413|PMID:18281098 20160302 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1309233 Srsf3 serine and arginine rich splicing factor 3 gene DOID:630 genetic disease ISO RGD:1319459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309233 Srsf3 serine and arginine rich splicing factor 3 gene DOID:9002498 Wallerian Degeneration IEP D RGD:10059662|PMID:8568916 20150824 RGD associated with Sciatic Neuropathy 1309235 Hmg20b high mobility group 20 B gene DOID:630 genetic disease ISO RGD:1347672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309235 Hmg20b high mobility group 20 B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347672 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309236 Zc3hav1l zinc finger CCCH-type containing, antiviral 1 like gene DOID:0080690 RASopathy ISO RGD:1601938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1309236 Zc3hav1l zinc finger CCCH-type containing, antiviral 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601938 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309236 Zc3hav1l zinc finger CCCH-type containing, antiviral 1 like gene DOID:630 genetic disease ISO RGD:1601938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309237 Tle1 TLE family member 1, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1319465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309238 Fnbp4 formin binding protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1309238 Fnbp4 formin binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1319467 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309238 Fnbp4 formin binding protein 4 gene DOID:630 genetic disease ISO RGD:1319467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309240 Spmap2 sperm microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1319470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309242 Rnmt RNA (guanine-7-) methyltransferase gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319473 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1309242 Rnmt RNA (guanine-7-) methyltransferase gene DOID:1059 intellectual disability ISO RGD:1319473 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309242 Rnmt RNA (guanine-7-) methyltransferase gene DOID:630 genetic disease ISO RGD:1319473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309243 Calr3 calreticulin 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319475 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:17655857|PMID:23861362|PMID:28492532 1309243 Calr3 calreticulin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1319475 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 1309243 Calr3 calreticulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 1309243 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29988065|PMID:31513939|PMID:9536098 1309243 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 1309243 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 1309243 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:34127479|PMID:9536098 1309243 Calr3 calreticulin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17655857|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31513939 1309243 Calr3 calreticulin 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29988065 1309243 Calr3 calreticulin 3 gene DOID:630 genetic disease ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309243 Calr3 calreticulin 3 gene DOID:9001172 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29988065|PMID:30847666 1309244 Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:0080600 COVID-19 ISO RGD:1319477 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309244 Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:12849 autistic disorder ISO RGD:1319477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15892143 1309244 Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:12849 autistic disorder ISO RGD:1319477 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309244 Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1319477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309244 Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1309245 Unc5d unc-5 netrin receptor D gene DOID:630 genetic disease ISO RGD:1319479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309246 Asb8 ankyrin repeat and SOCS box-containing 8 gene DOID:630 genetic disease ISO RGD:1319481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309247 Tjp3 tight junction protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319483 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1309247 Tjp3 tight junction protein 3 gene DOID:0080600 COVID-19 ISO RGD:1319483 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309247 Tjp3 tight junction protein 3 gene DOID:13938 amenorrhea ISO RGD:1319483 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1309247 Tjp3 tight junction protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1309249 Gadd45gip1 GADD45G interacting protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1309249 Gadd45gip1 GADD45G interacting protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1309249 Gadd45gip1 GADD45G interacting protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1309249 Gadd45gip1 GADD45G interacting protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1309249 Gadd45gip1 GADD45G interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309249 Gadd45gip1 GADD45G interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISS RGD:1319488 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 1309250 Slc30a6 solute carrier family 30 member 6 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1319489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 1309250 Slc30a6 solute carrier family 30 member 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 1309250 Slc30a6 solute carrier family 30 member 6 gene DOID:10652 Alzheimer's disease ISO RGD:1319489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 1309250 Slc30a6 solute carrier family 30 member 6 gene DOID:607 paraplegia ISO RGD:1319489 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 1309250 Slc30a6 solute carrier family 30 member 6 gene DOID:630 genetic disease ISO RGD:1319489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309250 Slc30a6 solute carrier family 30 member 6 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1319489 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319493 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532|PMID:29068549 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:21945076|PMID:26487268|PMID:28492532|PMID:29068549 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1319493 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1319493 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:7240710 20170405 OMIM 1309252 Traf3ip1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 9 PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549 1309253 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1309253 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309253 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:0111936 immunodeficiency 14 ISO RGD:1319494 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1309253 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:3347 osteosarcoma IEP D RGD:2314410|PMID:19444910 20091113 RGD 1309253 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:630 genetic disease ISO RGD:1319494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1319498 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:28434932 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:1205 allergic disease ISO RGD:1319498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:2316 brain ischemia ISO RGD:1319498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:2377 multiple sclerosis ISO RGD:1353724 D RGD:4145472|PMID:19865101 20150406 RGD DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:552 pneumonia ISO RGD:1319498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:630 genetic disease ISO RGD:1353724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1319498 D RGD:11344640|PMID:26569409 20210421 RGD mRNA:increased expression:liver (mouse) 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5135274|PMID:9698165 20141216 RGD mRNA:increased expression:spinal cord 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1319498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 1309255 Ccl12 C-C motif chemokine ligand 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353724 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309256 Zmiz2 zinc finger, MIZ-type containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605930 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309256 Zmiz2 zinc finger, MIZ-type containing 2 gene DOID:630 genetic disease ISO RGD:1605930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309256 Zmiz2 zinc finger, MIZ-type containing 2 gene DOID:9006030 Infant Death ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy 1309257 Olfml2b olfactomedin-like 2B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1309257 Olfml2b olfactomedin-like 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1319500 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309257 Olfml2b olfactomedin-like 2B gene DOID:630 genetic disease ISO RGD:1319500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309257 Olfml2b olfactomedin-like 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1319500 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309257 Olfml2b olfactomedin-like 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309257 Olfml2b olfactomedin-like 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319500 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309260 Dnali1 dynein, axonemal, light intermediate chain 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319504 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309260 Dnali1 dynein, axonemal, light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1319504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309260 Dnali1 dynein, axonemal, light intermediate chain 1 gene DOID:9002373 Spermatogenic Failure 83 ISO RGD:1319504 D RGD:7240710 20230505 OMIM 1309261 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1319506 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309261 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:630 genetic disease ISO RGD:1319506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309261 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319506 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309261 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309262 Mtch1 mitochondrial carrier 1 gene DOID:0050553 JMP syndrome ISO RGD:1319508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309262 Mtch1 mitochondrial carrier 1 gene DOID:630 genetic disease ISO RGD:1319508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:3652 Leigh disease ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:630 genetic disease ISO RGD:1605060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605060 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309263 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319511 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:7240710 20171011 OMIM 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 PMID:12567324|PMID:16308660|PMID:17576681|PMID:19402160|PMID:20498079|PMID:21209035|PMID:21344540|PMID:21642631|PMID:21937992|PMID:22302990|PMID:22500027|PMID:23462753|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:26518167|PMID:27486776|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119|PMID:33777945|PMID:9536098 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1319511 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:1059 intellectual disability ISO RGD:1319511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319511 D RGD:1579975|PMID:12567324 19990101 RGD 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22302990|PMID:22500027|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:27486776|PMID:28492532|PMID:29970488|PMID:30029678|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31469663|PMID:33777945|PMID:9536098 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:630 genetic disease ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30718709 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:8501 fundus dystrophy ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23462753|PMID:25741868 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319511 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309264 Bbs7 Bardet-Biedl syndrome 7 gene DOID:9007665 Bardet-Biedl Syndrome 1/7, Digenic ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic PMID:12567324|PMID:20498079|PMID:21642631|PMID:22500027|PMID:23572516|PMID:25741868|PMID:28492532 1309266 Tmem131 transmembrane protein 131 gene DOID:630 genetic disease ISO RGD:1606821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309267 Cstf1 cleavage stimulation factor subunit 1 gene DOID:630 genetic disease ISO RGD:1319516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1319518 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:10923 sickle cell anemia ISO RGD:1319518 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1319518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319518 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:8445 intestinal volvulus ISO RGD:1319518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319518 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309268 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1309269 Scara3 scavenger receptor class A, member 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1309269 Scara3 scavenger receptor class A, member 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1309269 Scara3 scavenger receptor class A, member 3 gene DOID:630 genetic disease ISO RGD:1319520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309270 Gli2 GLI family zinc finger 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 1309270 Gli2 GLI family zinc finger 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:0070067 White-Sutton syndrome ISO RGD:1606840 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:0080016 spina bifida ISO RGD:1606840 D RGD:12801432|PMID:26446020 20170330 RGD DNA, protein:hypermethylation, decreased expression:promoter, brain 1309270 Gli2 GLI family zinc finger 2 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula IEP D RGD:12801415|PMID:12947339 20170329 RGD 1309270 Gli2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:7240710 20140911 OMIM 1309270 Gli2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Culler-Jones syndrome PMID:15994174|PMID:20685856|PMID:22967285|PMID:23408573|PMID:25741868|PMID:28492532|PMID:31292255|PMID:6726521 1309270 Gli2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:7240710 20130425 OMIM 1309270 Gli2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:10725236|PMID:14581620|PMID:15994174|PMID:16327884|PMID:17096318|PMID:1756909|PMID:17569090|PMID:17576681|PMID:19223936|PMID:20685056|PMID:20685856|PMID:21204792|PMID:21416594|PMID:22967285|PMID:22978696|PMID:23408573|PMID:24744436|PMID:25741868|PMID:26893459|PMID:28166811|PMID:28191889|PMID:28492532|PMID:29165578|PMID:29876959|PMID:30548673|PMID:34198905|PMID:9536098 1309270 Gli2 GLI family zinc finger 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1606840 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 1309270 Gli2 GLI family zinc finger 2 gene DOID:0111428 essential tremor 1 ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 1309270 Gli2 GLI family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:10907 microcephaly ISO RGD:1606840 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:11175 enophthalmos ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606840 D RGD:12802349|PMID:25746691 20170405 RGD 1309270 Gli2 GLI family zinc finger 2 gene DOID:14679 VACTERL association ISO RGD:1319523 D RGD:155791680|PMID:11172440 20230105 RGD 1309270 Gli2 GLI family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:1923 disorder of sexual development ISO RGD:1606840 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1309270 Gli2 GLI family zinc finger 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26893459|PMID:28492532 1309270 Gli2 GLI family zinc finger 2 gene DOID:203 exostosis ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Exostosis PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1606840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16936257 1309270 Gli2 GLI family zinc finger 2 gene DOID:2513 basal cell carcinoma ISO RGD:1606840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 1309270 Gli2 GLI family zinc finger 2 gene DOID:4621 holoprosencephaly ISO RGD:1606840 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 1309270 Gli2 GLI family zinc finger 2 gene DOID:4621 holoprosencephaly ISO RGD:1606840 D RGD:8554872 20160719 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 1309270 Gli2 GLI family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14581620|PMID:15994174|PMID:20685856|PMID:22967285|PMID:24744436|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29165578 1309270 Gli2 GLI family zinc finger 2 gene DOID:9000495 Tremor ISO RGD:1606840 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations IEP D RGD:155791683|PMID:25213187 20230106 RGD mRNA:decreased expression:terminal rectum 1309270 Gli2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1319523 D RGD:12802352|PMID:11485934 20170405 RGD 1309270 Gli2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1606840 D RGD:12798571|PMID:20146882 20170328 RGD mRNA, protein:decreased expression:rectum 1309270 Gli2 GLI family zinc finger 2 gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:1606840 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 1309270 Gli2 GLI family zinc finger 2 gene DOID:9003133 Hypertelorism ISO RGD:1606840 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1606840 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1606840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 1309270 Gli2 GLI family zinc finger 2 gene DOID:9006205 Animal Disease Models ISO RGD:1606840 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 1309270 Gli2 GLI family zinc finger 2 gene DOID:9006257 Growth Disorders ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 1309270 Gli2 GLI family zinc finger 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 1309270 Gli2 GLI family zinc finger 2 gene DOID:9008280 Holoprosencephaly 10 ISO RGD:1606840 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES PMID:25741868|PMID:28492532 1309270 Gli2 GLI family zinc finger 2 gene DOID:9008582 Developmental Disease ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1309270 Gli2 GLI family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606840 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050795 cone dystrophy ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:16909397|PMID:18235024|PMID:23885164|PMID:25741868|PMID:28492532 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050817 Stargardt disease ISO RGD:1319524 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:18235024|PMID:30718709|PMID:8333273 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1319524 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:23885164|PMID:25741868|PMID:28492532 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:7240710 20130221 OMIM 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21402906|PMID:21558291|PMID:21882291|PMID:21911584|PMID:22264887|PMID:23077521|PMID:23115240|PMID:23143909|PMID:23725738|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31960170|PMID:33546218|PMID:8333273 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1319524 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:25741868 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26992781|PMID:28492532|PMID:33090715 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:8501 fundus dystrophy ISO RGD:1319524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21558291|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33309813|PMID:33546218 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319524 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:18235024|PMID:30718709|PMID:8333273 1309271 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9650 pathologic nystagmus ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 1309272 Sall2 spalt-like transcription factor 2 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1345005 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 1309272 Sall2 spalt-like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:7240710 20171011 OMIM 1309272 Sall2 spalt-like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive PMID:24412933|PMID:25741868 1309272 Sall2 spalt-like transcription factor 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1345005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1309272 Sall2 spalt-like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1345005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309272 Sall2 spalt-like transcription factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345005 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309273 Tmem26 transmembrane protein 26 gene DOID:630 genetic disease ISO RGD:1319527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309274 Mok MOK protein kinase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1309274 Mok MOK protein kinase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1319529 D RGD:8554872 20191105 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:25741868 1309274 Mok MOK protein kinase gene DOID:4450 renal cell carcinoma ISO RGD:1319529 D RGD:7243170|PMID:15900605 20130510 RGD mRNA:increased expression:kidney 1309274 Mok MOK protein kinase gene DOID:630 genetic disease ISO RGD:1319529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309274 Mok MOK protein kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 1309275 Slc7a11 solute carrier family 7 member 11 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:1319531 D RGD:151361157|PMID:24762957 20220225 RGD 1309275 Slc7a11 solute carrier family 7 member 11 gene DOID:2223 platelet storage pool deficiency ISS RGD:1319532 D RGD:13592920 20180518 MouseDO OMIM:185050 1309275 Slc7a11 solute carrier family 7 member 11 gene DOID:2773 contact dermatitis ISO RGD:1319531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1309275 Slc7a11 solute carrier family 7 member 11 gene DOID:3753 Hermansky-Pudlak syndrome ISS RGD:1319532 D RGD:13592920 20180518 MouseDO 1309275 Slc7a11 solute carrier family 7 member 11 gene DOID:630 genetic disease ISO RGD:1319531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309275 Slc7a11 solute carrier family 7 member 11 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19015640 1309277 Mrpl22 mitochondrial ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:1319534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309278 Chic2 cysteine-rich hydrophobic domain 2 gene DOID:630 genetic disease ISO RGD:1319536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309278 Chic2 cysteine-rich hydrophobic domain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319536 D RGD:7240710 20130221 OMIM 1309279 Tk2 thymidine kinase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309279 Tk2 thymidine kinase 2 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:12682338|PMID:16504786|PMID:19154348|PMID:19265691|PMID:24033266|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:27839525|PMID:28492532|PMID:29602790|PMID:29735374|PMID:30831263|PMID:31060578 1309279 Tk2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:7240710 20130221 OMIM 1309279 Tk2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2 PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660 1309279 Tk2 thymidine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1319538 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309279 Tk2 thymidine kinase 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1319538 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1309279 Tk2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:7240710 20190315 OMIM 1309279 Tk2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 PMID:12655576|PMID:12682338|PMID:15907288|PMID:18819985|PMID:19265691|PMID:21937588|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29602790 1309279 Tk2 thymidine kinase 2 gene DOID:423 myopathy ISO RGD:1319538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:22345218 1309279 Tk2 thymidine kinase 2 gene DOID:630 genetic disease ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309279 Tk2 thymidine kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1319538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660 1309279 Tk2 thymidine kinase 2 gene DOID:9002774 Mitochondrial DNA Depletion Syndrome, Myopathic Form ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, myopathic form PMID:11687801|PMID:12391347|PMID:12493767|PMID:12655576|PMID:12682338|PMID:12873860|PMID:15639197|PMID:15907288|PMID:16504786|PMID:16908738|PMID:1734306|PMID:17576681|PMID:18508266|PMID:18819985|PMID:19154348|PMID:19265691|PMID:19736010|PMID:20083405|PMID:20421844|PMID:21937588|PMID:22345218|PMID:23303857|PMID:23932787|PMID:23963299|PMID:24033266|PMID:24484525|PMID:25326635|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:26467025|PMID:26925861|PMID:27660820|PMID:27839525|PMID:28492532|PMID:28812460|PMID:29602790|PMID:29735374|PMID:29783828|PMID:31060578|PMID:31125140|PMID:33013660|PMID:9536098 1309280 Rfc5 replication factor C subunit 5 gene DOID:630 genetic disease ISO RGD:1319540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309281 Shkbp1 Sh3kbp1 binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1309281 Shkbp1 Sh3kbp1 binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1309281 Shkbp1 Sh3kbp1 binding protein 1 gene DOID:2340 craniosynostosis ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1309281 Shkbp1 Sh3kbp1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1352927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309281 Shkbp1 Sh3kbp1 binding protein 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1309281 Shkbp1 Sh3kbp1 binding protein 1 gene DOID:9269 maple syrup urine disease ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1309282 Rnf10 ring finger protein 10 gene DOID:630 genetic disease ISO RGD:1319543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309283 Sncaip synuclein, alpha interacting protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1309283 Sncaip synuclein, alpha interacting protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319545 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12761037|PMID:18366718|PMID:28492532 1309283 Sncaip synuclein, alpha interacting protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309283 Sncaip synuclein, alpha interacting protein gene DOID:14330 Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive PMID:12761037|PMID:18366718|PMID:21344240|PMID:24033266|PMID:28492532 1309283 Sncaip synuclein, alpha interacting protein gene DOID:630 genetic disease ISO RGD:1319545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309283 Sncaip synuclein, alpha interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319545 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309283 Sncaip synuclein, alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1309283 Sncaip synuclein, alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309283 Sncaip synuclein, alpha interacting protein gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1319545 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30021165|PMID:31616000 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1603312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 PMID:25741868 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1059 intellectual disability ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1826 epilepsy ISO RGD:1603312 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:31616000 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:5419 schizophrenia ISO RGD:1603312 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:31616000 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:630 genetic disease ISO RGD:1603312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:28518168|PMID:28754924|PMID:30021165|PMID:31616000|PMID:32461654|PMID:33875846 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603312 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603312 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:31616000 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603312 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:31616000 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008432 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES ISO RGD:1603312 D RGD:7240710 20201216 OMIM 1309285 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008432 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures PMID:23033978|PMID:25741868|PMID:28492532|PMID:28754924|PMID:30021165|PMID:31616000 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:0050938 breast lobular carcinoma ISO RGD:1319551 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:1540 parathyroid carcinoma ISO RGD:1319551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:630 genetic disease ISO RGD:1319551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319551 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:9008939 Breast Neoplasms ISO RGD:1319551 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 1309287 Ppp1r12b protein phosphatase 1, regulatory subunit 12B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319551 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309288 Iyd iodotyrosine deiodinase gene DOID:0050328 congenital hypothyroidism ISO RGD:1345868 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 1309288 Iyd iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:7240710 20130221 OMIM 1309288 Iyd iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 PMID:13183981|PMID:13333116|PMID:18434651|PMID:18765512|PMID:25741868|PMID:28492532 1309288 Iyd iodotyrosine deiodinase gene DOID:630 genetic disease ISO RGD:1345868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13183981|PMID:13333116|PMID:18434651|PMID:25741868|PMID:28106320|PMID:28492532 1309288 Iyd iodotyrosine deiodinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1319554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938944 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29432982|PMID:29932062|PMID:32917966 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:7240710 20170329 OMIM 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 3 PMID:12840008|PMID:16199547|PMID:18515411|PMID:20054297|PMID:23852950|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1319554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319554 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868|PMID:28492532 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:9006741 Acute Hepatitis IEP D RGD:11568659|PMID:20033472 20161209 RGD 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12144783|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29909963|PMID:30552997|PMID:30753826|PMID:31227763|PMID:31285513|PMID:31360874|PMID:31942411|PMID:33193653|PMID:9536098 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:9536098 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:35128723|PMID:9536098|PMID:9705289 1309289 Nthl1 nth-like DNA glycosylase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:18515411|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27713038|PMID:27720914|PMID:28492532|PMID:29909963|PMID:30248171|PMID:30753826|PMID:33193653 1309290 Supt6h SPT6 homolog, histone chaperone and transcription elongation factor gene DOID:630 genetic disease ISO RGD:1319556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309292 Nacc2 NACC family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 1309292 Nacc2 NACC family member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1309292 Nacc2 NACC family member 2 gene DOID:3652 Leigh disease ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1309292 Nacc2 NACC family member 2 gene DOID:630 genetic disease ISO RGD:1319559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309292 Nacc2 NACC family member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1309293 Spry1 sprouty RTK signaling antagonist 1 gene DOID:630 genetic disease ISO RGD:1319561 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11983899 1309293 Spry1 sprouty RTK signaling antagonist 1 gene DOID:9002488 Peritoneal Fibrosis IEP D RGD:40925948|PMID:30515805 20210126 RGD mRNA, protein:decreased expression:peritoneal fluid,tissue 1309293 Spry1 sprouty RTK signaling antagonist 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1309293 Spry1 sprouty RTK signaling antagonist 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319561 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309295 Cdc37l1 cell division cycle 37-like 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1309295 Cdc37l1 cell division cycle 37-like 1 gene DOID:630 genetic disease ISO RGD:1319564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309296 Ell2 elongation factor for RNA polymerase II 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309296 Ell2 elongation factor for RNA polymerase II 2 gene DOID:0080600 COVID-19 ISO RGD:1319566 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309296 Ell2 elongation factor for RNA polymerase II 2 gene DOID:630 genetic disease ISO RGD:1319566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309296 Ell2 elongation factor for RNA polymerase II 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319566 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309296 Ell2 elongation factor for RNA polymerase II 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309297 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1309297 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:630 genetic disease ISO RGD:1319568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309297 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319568 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1309297 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603610 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603610 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603610 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1603610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20639879 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:630 genetic disease ISO RGD:1603610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603610 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603610 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309299 Mmel1 membrane metallo-endopeptidase-like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309302 Rnf151 ring finger protein 151 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1309302 Rnf151 ring finger protein 151 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1309302 Rnf151 ring finger protein 151 gene DOID:1826 epilepsy ISO RGD:1319576 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309302 Rnf151 ring finger protein 151 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319576 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309302 Rnf151 ring finger protein 151 gene DOID:630 genetic disease ISO RGD:1319576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309303 Cers4 ceramide synthase 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1309303 Cers4 ceramide synthase 4 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319578 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1309303 Cers4 ceramide synthase 4 gene DOID:12849 autistic disorder ISO RGD:1319578 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309303 Cers4 ceramide synthase 4 gene DOID:630 genetic disease ISO RGD:1319578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319580 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:3490 Noonan syndrome ISO RGD:1319580 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:34626534 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:4480 achondroplasia ISS RGD:1319581 D RGD:13592920 20180518 MouseDO OMIM:100800 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1319580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:7240710 20220223 OMIM 1309304 Spred2 sprouty-related, EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Noonan syndrome 14 PMID:25741868|PMID:34626534 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:1909 melanoma ISO RGD:1319582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:630 genetic disease ISO RGD:1319582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy IMP D RGD:10401832|PMID:26258299 20200130 RGD 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20201210 RGD 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IMP D RGD:10401832|PMID:26258299 20200130 RGD 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20201210 RGD 1309305 Slc39a12 solute carrier family 39 member 12 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 1309306 Mdm4 MDM4 regulator of p53 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1309306 Mdm4 MDM4 regulator of p53 gene DOID:10316 pneumoconiosis ISO RGD:1319584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1309306 Mdm4 MDM4 regulator of p53 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1319584 D RGD:10047419|PMID:23861893 20150713 RGD 1309306 Mdm4 MDM4 regulator of p53 gene DOID:12849 autistic disorder ISO RGD:1319584 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309306 Mdm4 MDM4 regulator of p53 gene DOID:12930 dilated cardiomyopathy ISS RGD:1319585 D RGD:13592920 20180518 MouseDO 1309306 Mdm4 MDM4 regulator of p53 gene DOID:1540 parathyroid carcinoma ISO RGD:1319584 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309306 Mdm4 MDM4 regulator of p53 gene DOID:3068 glioblastoma ISO RGD:1319584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20472715 1309306 Mdm4 MDM4 regulator of p53 gene DOID:630 genetic disease ISO RGD:1319584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309306 Mdm4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:7240710 20200429 OMIM 1309306 Mdm4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 6 PMID:25741868|PMID:32300648 1309306 Mdm4 MDM4 regulator of p53 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1309306 Mdm4 MDM4 regulator of p53 gene DOID:9008939 Breast Neoplasms ISO RGD:1319584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 1309306 Mdm4 MDM4 regulator of p53 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319584 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309307 Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1309307 Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 gene DOID:630 genetic disease ISO RGD:1319586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309307 Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1309307 Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319586 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309308 Ufl1 Ufm1-specific ligase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319587 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1309308 Ufl1 Ufm1-specific ligase 1 gene DOID:630 genetic disease ISO RGD:1319587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309309 Irx4 iroquois homeobox 4 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1319589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1309309 Irx4 iroquois homeobox 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309309 Irx4 iroquois homeobox 4 gene DOID:630 genetic disease ISO RGD:1319589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases 1309309 Irx4 iroquois homeobox 4 gene DOID:6419 tetralogy of Fallot ISO RGD:1319589 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 1309309 Irx4 iroquois homeobox 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309309 Irx4 iroquois homeobox 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319590 D RGD:1582289|PMID:11238910 20061103 RGD 1309309 Irx4 iroquois homeobox 4 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1319589 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:0050753 cerebellar ataxia susceptibility ISO RGD:1319593 D RGD:1599348|PMID:14556008 20070130 RGD 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:7240710 20130221 OMIM 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cayman type cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29449188 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:13938 amenorrhea ISO RGD:1319593 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia IAGP D RGD:5133436|PMID:16246457 20070130 RGD DNA:insertion:intron (rat) 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1617620 D RGD:1599348|PMID:14556008 20110617 RGD DNA:insertions, deletion:intron, exons (mouse) 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:630 genetic disease ISO RGD:1319593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309312 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:9004866 Ataxia ISO RGD:1617620 D RGD:1599348|PMID:14556008 20110617 RGD DNA:insertions, deletion:intron, exons (mouse) 1309313 Mfsd13a major facilitator superfamily domain containing 13A gene DOID:630 genetic disease ISO RGD:1319594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309314 Accs 1-aminocyclopropane-1-carboxylate synthase gene DOID:0080600 COVID-19 ISO RGD:1606762 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309314 Accs 1-aminocyclopropane-1-carboxylate synthase gene DOID:1059 intellectual disability ISO RGD:1606762 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309314 Accs 1-aminocyclopropane-1-carboxylate synthase gene DOID:630 genetic disease ISO RGD:1606762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309315 Mrps36 mitochondrial ribosomal protein S36 gene DOID:630 genetic disease ISO RGD:1319596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309315 Mrps36 mitochondrial ribosomal protein S36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319596 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309316 Fam83e family with sequence similarity 83, member E gene DOID:630 genetic disease ISO RGD:1606549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319599 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319599 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:3652 Leigh disease ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1309317 Slc2a6 solute carrier family 2 member 6 gene DOID:630 genetic disease ISO RGD:1319599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309318 Adcy1 adenylate cyclase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1319601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 1309318 Adcy1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:7240710 20140723 OMIM 1309318 Adcy1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 44 PMID:15583425|PMID:24033266|PMID:24482543|PMID:24824130|PMID:25741868|PMID:28492532 1309318 Adcy1 adenylate cyclase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319601 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309318 Adcy1 adenylate cyclase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1309318 Adcy1 adenylate cyclase 1 gene DOID:630 genetic disease ISO RGD:1319601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309318 Adcy1 adenylate cyclase 1 gene DOID:9002362 Hyperkinesis ISO RGD:1319601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 1309319 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1309319 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604788 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309319 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1604788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309319 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604788 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309320 Top3a DNA topoisomerase III alpha gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1319604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1309320 Top3a DNA topoisomerase III alpha gene DOID:0050777 Joubert syndrome ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309320 Top3a DNA topoisomerase III alpha gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1319604 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1309320 Top3a DNA topoisomerase III alpha gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1309320 Top3a DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:7240710 20190821 OMIM 1309320 Top3a DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 PMID:25741868|PMID:28492532|PMID:29290614 1309320 Top3a DNA topoisomerase III alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1319604 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1309320 Top3a DNA topoisomerase III alpha gene DOID:12849 autistic disorder ISO RGD:1319604 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309320 Top3a DNA topoisomerase III alpha gene DOID:630 genetic disease ISO RGD:1319604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309320 Top3a DNA topoisomerase III alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:1319604 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29290614 1309320 Top3a DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:7240710 20190315 OMIM 1309320 Top3a DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 PMID:25741868|PMID:28492532|PMID:30057030 1309321 Chrac1 chromatin accessibility complex subunit 1 gene DOID:630 genetic disease ISO RGD:1319606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309322 Fem1c fem-1 homolog C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309322 Fem1c fem-1 homolog C gene DOID:12849 autistic disorder ISO RGD:1319607 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309322 Fem1c fem-1 homolog C gene DOID:630 genetic disease ISO RGD:1319607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309322 Fem1c fem-1 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319607 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309322 Fem1c fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309323 Ltk leukocyte receptor tyrosine kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1319608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309323 Ltk leukocyte receptor tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319608 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309323 Ltk leukocyte receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309323 Ltk leukocyte receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1319608 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309325 Trappc6b trafficking protein particle complex subunit 6B gene DOID:630 genetic disease ISO RGD:1319611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28626029|PMID:31687267 1309325 Trappc6b trafficking protein particle complex subunit 6B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319611 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309325 Trappc6b trafficking protein particle complex subunit 6B gene DOID:9009122 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY ISO RGD:1319611 D RGD:7240710 20190315 OMIM 1309325 Trappc6b trafficking protein particle complex subunit 6B gene DOID:9009122 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY ISO RGD:1319611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | ClinVar Annotator: match by term: TRAPPC6B-related neurodevelopmental disorder PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28492532|PMID:28626029|PMID:31687267|PMID:32860008 1309327 Nxt1 nuclear transport factor 2-like export factor 1 gene DOID:630 genetic disease ISO RGD:1319614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309328 Sec23ip SEC23 interacting protein gene DOID:630 genetic disease ISO RGD:1319616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319617 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:29207047 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:11719191|PMID:15024691|PMID:16199547|PMID:16252235|PMID:25711638|PMID:28041643|PMID:28492532|PMID:29181528|PMID:31299183|PMID:8832721 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0050770 polycystic liver disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:30452590 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18825883 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:12792277|PMID:11719191 20170315 RGD DNA:mutations:cds: 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:12792280|PMID:16679074 20170315 RGD DNA:mutations:cds:p.W478R,p.W504C(human) 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:7240710 20130221 OMIM 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:20034086|PMID:21528003|PMID:25741868|PMID:26467025|PMID:28420620|PMID:28492532|PMID:29131652|PMID:30452590|PMID:30894705|PMID:35106624 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:7240710 20130221 OMIM 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Worth disease PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11883972|PMID:12015390|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:23318847|PMID:25741868|PMID:26348019|PMID:26467025|PMID:28492532|PMID:30452590 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:25711638|PMID:25741868|PMID:25920554|PMID:28492532|PMID:30283887 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:7240710 20130221 OMIM 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11741193|PMID:12015390|PMID:12054167|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:23318847|PMID:25741868|PMID:26348019|PMID:26467025|PMID:28492532|PMID:30452590 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:7240710 20130221 OMIM 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic PMID:11719191|PMID:12579474|PMID:14507768|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17955262|PMID:18058054|PMID:18349089|PMID:18588671|PMID:20034086|PMID:20340138|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26244290|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29181528|PMID:30452590|PMID:31077665|PMID:31237656|PMID:34639175|PMID:8832721|PMID:9056564|PMID:9831343 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1319617 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1309329 Lrp5 LDL receptor related protein 5 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18588671|PMID:21528003|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28420620|PMID:28492532|PMID:30452590|PMID:33302760|PMID:35106624 1309329 Lrp5 LDL receptor related protein 5 gene DOID:1059 intellectual disability ISO RGD:1319617 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309329 Lrp5 LDL receptor related protein 5 gene DOID:10629 microphthalmia ISO RGD:1319617 D RGD:12793059|PMID:28111184 20170320 RGD DNA:mutation:splice junction: 1309329 Lrp5 LDL receptor related protein 5 gene DOID:10907 microcephaly ISO RGD:1319617 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:1625350|PMID:17002564 20070604 RGD 1309329 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:7240710 20130221 OMIM 1309329 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25073507|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:35106624|PMID:9536098 1309329 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis treatment IEP D RGD:12793063|PMID:21977807 20170320 RGD 1309329 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis treatment IEP D RGD:7240519|PMID:22704852 20170320 RGD 1309329 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:24706814|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705 1309329 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705|PMID:33118644 1309329 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta treatment ISO RGD:1319618 D RGD:12792279|PMID:24677211 20170315 RGD 1309329 Lrp5 LDL receptor related protein 5 gene DOID:12559 idiopathic juvenile osteoporosis ISO RGD:1319617 D RGD:12793058|PMID:22487062 20170320 RGD DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) 1309329 Lrp5 LDL receptor related protein 5 gene DOID:13533 osteopetrosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High bone mass PMID:11741193|PMID:12015390|PMID:25741868|PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:4079 heart valve disease ISO RGD:1319617 D RGD:12793057|PMID:16631011 20170320 RGD protein:increased expression:heart valve 1309329 Lrp5 LDL receptor related protein 5 gene DOID:4254 osteosclerosis ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11719191|PMID:11741193|PMID:11793484|PMID:12015390|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:25741868|PMID:26467025|PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:4997 Camurati-Engelmann disease ISO RGD:1319617 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:25741868 1309329 Lrp5 LDL receptor related protein 5 gene DOID:630 genetic disease ISO RGD:1319617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11719191|PMID:15024691|PMID:15346351|PMID:16199547|PMID:16252235|PMID:21407258|PMID:25711638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29181528|PMID:8832721|PMID:9831343 1309329 Lrp5 LDL receptor related protein 5 gene DOID:8501 fundus dystrophy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11719191|PMID:16252235|PMID:25711638|PMID:25741868|PMID:27208204|PMID:28492532|PMID:30452590 1309329 Lrp5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility IAGP D RGD:11553546|PMID:25920554 20191204 RGD DNA:missense mutation:cds:multiple mutations (human) 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12798566|PMID:24090150 20170327 RGD 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:24706814|PMID:25073507|PMID:25741868|PMID:28492532|PMID:30452590 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility IAGP D RGD:11063140|PMID:24706814 20191204 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:1319618 D RGD:11343819|PMID:26554834 20170327 RGD DNA:missense mutations:cds:p.A214V,p.G171V(mouse) 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9002589 Bone Fractures ISO RGD:1319617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9003049 Femur Head Necrosis treatment IEP D RGD:12793062|PMID:24510055 20170320 RGD 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1319617 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868|PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9005882 Spine Osteoarthritis susceptibility ISO RGD:1319617 D RGD:12792278|PMID:17202888 20170315 RGD DNA:polymorphism:cds:p.Q89R(human) 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:7240710 20190315 OMIM 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18058054|PMID:18349089|PMID:18588671|PMID:24706814|PMID:25073507|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590 1309329 Lrp5 LDL receptor related protein 5 gene DOID:971 tendinitis IEP D RGD:12793064|PMID:23776285 20170320 RGD protein:increased expression:patellar tendon: 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18263894 1309329 Lrp5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:1599835|PMID:15346351 20070216 RGD DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human) 1309330 Scarf1 scavenger receptor class F, member 1 gene DOID:630 genetic disease ISO RGD:1319619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:0050545 visceral heterotaxy ISO RGD:1319622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437028 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:0050545 visceral heterotaxy ISO RGD:1319622 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:24033266|PMID:25741868|PMID:26437028 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:37 skin disease ISO RGD:1319622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:4415 fibrous histiocytoma ISO RGD:1319622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:630 genetic disease ISO RGD:1319622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:7240710 20190315 OMIM 1309332 Mmp21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal PMID:24033266|PMID:25741868|PMID:26437028|PMID:28492532 1309333 Mael maelstrom spermatogenic transposon silencer gene DOID:1540 parathyroid carcinoma ISO RGD:1605917 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309333 Mael maelstrom spermatogenic transposon silencer gene DOID:630 genetic disease ISO RGD:1605917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309333 Mael maelstrom spermatogenic transposon silencer gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605917 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309334 Zdhhc18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1309334 Zdhhc18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:630 genetic disease ISO RGD:1319625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309335 Ate1 arginyltransferase 1 gene DOID:2340 craniosynostosis ISO RGD:1319626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1309335 Ate1 arginyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309336 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:6000 congestive heart failure ISO RGD:1319628 D RGD:11554173 20190115 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 1309336 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:630 genetic disease ISO RGD:1319628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309336 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:9001371 Eosinophilia ISO RGD:1319628 D RGD:11075088|PMID:23114151 20160505 RGD DNA:gene fusion 1309336 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:1319628 D RGD:11075089|PMID:22806436 20160505 RGD DNA:gene fusion 1309336 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:999 hypereosinophilic syndrome ISO RGD:1319628 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:16778211|PMID:28347583|PMID:31036733 1309337 Klk13 kallikrein related-peptidase 13 gene DOID:10283 prostate cancer ISO RGD:1319630 D RGD:2314865|PMID:12970725 20091201 RGD protein:decreased expression:prostate 1309337 Klk13 kallikrein related-peptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1319630 D RGD:2314862|PMID:19707197 20091201 RGD mRNA:increased expression:ovary 1309337 Klk13 kallikrein related-peptidase 13 gene DOID:630 genetic disease ISO RGD:1319630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309339 Marchf8 membrane associated ring-CH-type finger 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:0050700 cardiomyopathy ISO RGD:1319634 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10620750 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1319634 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319634 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1319634 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:1059 intellectual disability ISO RGD:1319634 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309340 Mapk11 mitogen-activated protein kinase 11 gene DOID:630 genetic disease ISO RGD:1319634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309341 Tmem192 transmembrane protein 192 gene DOID:630 genetic disease ISO RGD:1602829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309343 Sema3c semaphorin 3C gene DOID:1826 epilepsy ISO RGD:1319638 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 1309343 Sema3c semaphorin 3C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319638 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309343 Sema3c semaphorin 3C gene DOID:630 genetic disease ISO RGD:1319638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309343 Sema3c semaphorin 3C gene DOID:7148 rheumatoid arthritis ISO RGD:1319638 D RGD:1580084|PMID:15077297 19990101 RGD protein:increased expression:knee, synovium (human) 1309343 Sema3c semaphorin 3C gene DOID:9002189 High Myopia ISO RGD:1319638 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1309343 Sema3c semaphorin 3C gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1319638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 1309345 Bcl6 BCL6, transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319642 D RGD:1600111|PMID:11821949 20070228 RGD diffuse large B-cell lymphoma 1309345 Bcl6 BCL6, transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319642 D RGD:11530023|PMID:15701085 20160819 RGD 1309345 Bcl6 BCL6, transcription repressor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25543051 1309345 Bcl6 BCL6, transcription repressor gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1319642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15375218 1309345 Bcl6 BCL6, transcription repressor gene DOID:5419 schizophrenia ISO RGD:1319642 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309345 Bcl6 BCL6, transcription repressor gene DOID:630 genetic disease ISO RGD:1319642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309345 Bcl6 BCL6, transcription repressor gene DOID:707 B-cell lymphoma ISO RGD:1319642 D RGD:1600111|PMID:11821949 20070228 RGD diffuse large B-cell lymphoma 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1319644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:1612 breast cancer ISO RGD:1319644 D RGD:1599411|PMID:12068296 20070201 RGD 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:1612 breast cancer ISO RGD:1319644 D RGD:7240710 20180711 OMIM 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:3458 breast adenocarcinoma ISO RGD:1319644 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:12068296 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1319644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1319644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1319644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1309346 Rb1cc1 RB1-inducible coiled-coil 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 1309349 Hipk2 homeodomain interacting protein kinase 2 gene DOID:11664 nephrosclerosis ISO RGD:1319649 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 1309349 Hipk2 homeodomain interacting protein kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:1319649 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 1309349 Hipk2 homeodomain interacting protein kinase 2 gene DOID:630 genetic disease ISO RGD:1319649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309349 Hipk2 homeodomain interacting protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319649 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1309353 Mrc1 mannose receptor, C type 1 gene DOID:0080600 COVID-19 ISO RGD:1319655 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309353 Mrc1 mannose receptor, C type 1 gene DOID:1024 leprosy ISO RGD:1319655 D RGD:8554872 20201117 ClinVar ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy PMID:20035344 1309353 Mrc1 mannose receptor, C type 1 gene DOID:2018 hyperinsulinism ISO RGD:1319655 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1309353 Mrc1 mannose receptor, C type 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1319655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1309353 Mrc1 mannose receptor, C type 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:40924652|PMID:24968269 20210118 RGD 1309353 Mrc1 mannose receptor, C type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1319655 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1309353 Mrc1 mannose receptor, C type 1 gene DOID:9970 obesity ISO RGD:1319655 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1309354 Ctsw cathepsin W gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319657 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1309354 Ctsw cathepsin W gene DOID:1059 intellectual disability ISO RGD:1319657 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309354 Ctsw cathepsin W gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309354 Ctsw cathepsin W gene DOID:2746 glycogen storage disease V ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309354 Ctsw cathepsin W gene DOID:630 genetic disease ISO RGD:1319657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309354 Ctsw cathepsin W gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309354 Ctsw cathepsin W gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309355 Ncln nicalin gene DOID:10487 Hirschsprung's disease ISO RGD:1343218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1309355 Ncln nicalin gene DOID:630 genetic disease ISO RGD:1343218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309355 Ncln nicalin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343218 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309356 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319660 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1309356 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:23217329|PMID:24033266|PMID:25741868|PMID:28492532 1309356 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:7240710 20140911 OMIM 1309356 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30017359|PMID:31742715|PMID:9536098 1309356 Rxylt1 ribitol xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319660 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309357 Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1319662 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309357 Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319662 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309358 Sec24b SEC24 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309359 Unc119b unc-119 lipid binding chaperone B gene DOID:630 genetic disease ISO RGD:1345863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309360 Rgs7bp regulator of G-protein signaling 7 binding protein gene DOID:630 genetic disease ISO RGD:1604905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309360 Rgs7bp regulator of G-protein signaling 7 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604905 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309361 Col8a1 collagen type VIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309361 Col8a1 collagen type VIII alpha 1 chain gene DOID:9005835 Congenital Abnormalities ISO RGD:1319668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19035365 1309361 Col8a1 collagen type VIII alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1319668 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1309363 Cdca7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:7240710 20190315 OMIM 1309363 Cdca7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 PMID:15952214|PMID:1999836|PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 1309363 Cdca7 cell division cycle associated 7 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319671 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309363 Cdca7 cell division cycle associated 7 gene DOID:630 genetic disease ISO RGD:1319671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309363 Cdca7 cell division cycle associated 7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319671 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1309364 F11 coagulation factor XI gene DOID:0060903 thrombosis ISO RGD:1319673 D RGD:11041774|PMID:22633531 20160329 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) 1309364 F11 coagulation factor XI gene DOID:0060903 thrombosis susceptibility ISO RGD:1319673 D RGD:11041778|PMID:19583818 20160329 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) 1309364 F11 coagulation factor XI gene DOID:10763 hypertension ISO RGD:1319673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 1309364 F11 coagulation factor XI gene DOID:12849 autistic disorder ISO RGD:1319673 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309364 F11 coagulation factor XI gene DOID:2213 hemorrhagic disease ISO RGD:1319673 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10593931|PMID:11122101|PMID:15026311|PMID:15140127|PMID:15531455|PMID:16079124|PMID:16519703|PMID:16835901|PMID:18515884|PMID:20015217|PMID:2052060|PMID:21668437|PMID:23929304|PMID:24033266|PMID:24982842|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:34355501|PMID:9326232 1309364 F11 coagulation factor XI gene DOID:2222 factor X deficiency ISO RGD:1319673 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency PMID:25741868|PMID:31064749 1309364 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:11041741|PMID:11127865 20160328 RGD DNA:missense, nonsense, duplication, deletion:cds: 1309364 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:11041742|PMID:10706758 20160328 RGD DNA:nonsense mutation:exon:G263X(human) 1309364 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:1598923|PMID:2813350 20070102 RGD 1309364 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:7240710 20130221 OMIM 1309364 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:10444286|PMID:10593931|PMID:10606881|PMID:10706758|PMID:11122101|PMID:11127865|PMID:11418471|PMID:11895778|PMID:12586617|PMID:12716376|PMID:12879434|PMID:14508802|PMID:14717969|PMID:15026311|PMID:15090552|PMID:15140127|PMID:15140147|PMID:15180874|PMID:15456490|PMID:1547342|PMID:15531455|PMID:15634276|PMID:15728123|PMID:15749683|PMID:15842381|PMID:15870541|PMID:15946525|PMID:15953011|PMID:15968392|PMID:16079124|PMID:16086308|PMID:16199547|PMID:16519703|PMID:16607084|PMID:16787881|PMID:16835901|PMID:17229051|PMID:17549289|PMID:17576681|PMID:18005151|PMID:18024374|PMID:18327400|PMID:18388506|PMID:18446632|PMID:18515884|PMID:18758779|PMID:18832909|PMID:18839438|PMID:19367158|PMID:19652879|PMID:20015217|PMID:20398070|PMID:2052060|PMID:20523169|PMID:21192253|PMID:21457405|PMID:21649796|PMID:21668437|PMID:21718436|PMID:21824284|PMID:22016685|PMID:22159456|PMID:22197449|PMID:23305485|PMID:23315997|PMID:23332144|PMID:23929304|PMID:24033266|PMID:24112640|PMID:24982842|PMID:25074526|PMID:25158988|PMID:25681615|PMID:25741868|PMID:25741869|PMID:26558335|PMID:26879396|PMID:27067486|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28445521|PMID:28492532|PMID:28615222|PMID:28960694|PMID:29138690|PMID:29178608|PMID:29367083|PMID:31064749|PMID:31644447|PMID:32220196|PMID:32333264|PMID:32581362|PMID:32596782|PMID:34355501|PMID:7669672|PMID:7888672|PMID:8832909|PMID:9326232|PMID:9401068|PMID:9536098|PMID:9787168 1309364 F11 coagulation factor XI gene DOID:3490 Noonan syndrome ISO RGD:1319673 D RGD:11041743|PMID:3354599 20160328 RGD protein:decreased expression:plasma: 1309364 F11 coagulation factor XI gene DOID:3525 middle cerebral artery infarction ISO RGD:1319674 D RGD:11041786|PMID:16533887 20160329 RGD 1309364 F11 coagulation factor XI gene DOID:630 genetic disease ISO RGD:1319673 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10593931|PMID:15026311|PMID:15140127|PMID:16835901|PMID:2052060|PMID:23929304|PMID:24033266|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:34355501|PMID:9326232 1309364 F11 coagulation factor XI gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1319673 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cerebral hemorrhage 1309364 F11 coagulation factor XI gene DOID:9003281 Spontaneous Abortions ISO RGD:1319673 D RGD:11041767|PMID:25517908 20160329 RGD protein:increased activity:blood: 1309364 F11 coagulation factor XI gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1319673 D RGD:11041768|PMID:10706899 20160329 RGD protein:increased activity:blood: 1309364 F11 coagulation factor XI gene DOID:9004484 Sepsis IEP D RGD:1598921|PMID:12000738 20160121 RGD 1309364 F11 coagulation factor XI gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1319673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1309366 Pmm2 phosphomannomutase 2 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 1309366 Pmm2 phosphomannomutase 2 gene DOID:0050570 congenital disorder of glycosylation type I ISS RGD:1557829 D RGD:13592920 20180518 MouseDO OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457 1309366 Pmm2 phosphomannomutase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1319677 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 1309366 Pmm2 phosphomannomutase 2 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 1309366 Pmm2 phosphomannomutase 2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:10386614|PMID:10527672|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:18948042|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 1309366 Pmm2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21539312 1309366 Pmm2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:7240710 20130221 OMIM 1309366 Pmm2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:10066032|PMID:10386614|PMID:10392743|PMID:10527672|PMID:10571009|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11148191|PMID:11156536|PMID:11350185|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11875054|PMID:11891694|PMID:11916319|PMID:12244009|PMID:12297897|PMID:12357336|PMID:12529711|PMID:12607543|PMID:12626389|PMID:12705494|PMID:12905014|PMID:13129599|PMID:15272470|PMID:15277997|PMID:15520415|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16085795|PMID:16199547|PMID:16376131|PMID:16435227|PMID:16540464|PMID:16825284|PMID:16941129|PMID:17158594|PMID:17166182|PMID:17186415|PMID:17307006|PMID:17308246|PMID:17451957|PMID:17576681|PMID:17920054|PMID:18093857|PMID:18203160|PMID:18485644|PMID:18571450|PMID:18629883|PMID:18948042|PMID:19101518|PMID:19165618|PMID:19168813|PMID:19235233|PMID:19357119|PMID:19396570|PMID:19862844|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:21937992|PMID:21949237|PMID:22012410|PMID:22223895|PMID:22649348|PMID:22801829|PMID:22814378|PMID:22975760|PMID:23045520|PMID:23430838|PMID:23430905|PMID:23430927|PMID:23757202|PMID:23806237|PMID:23988505|PMID:24033266|PMID:24037084|PMID:24139637|PMID:24493206|PMID:24498599|PMID:24739649|PMID:25167861|PMID:25192236|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25525159|PMID:25640679|PMID:25681648|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26425584|PMID:26488408|PMID:26502900|PMID:26629787|PMID:26633542|PMID:26805780|PMID:26887550|PMID:27053713|PMID:27231023|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28566178|PMID:28807751|PMID:28820871|PMID:28915903|PMID:28940310|PMID:28954837|PMID:29361989|PMID:29470411|PMID:29701302|PMID:30061496|PMID:30397276|PMID:30406445|PMID:30530630|PMID:30687093|PMID:30740725|PMID:30991241|PMID:31115488|PMID:31117816|PMID:31391289|PMID:31474318|PMID:31902100|PMID:31980526|PMID:32457805|PMID:32581362|PMID:32635232|PMID:32860008|PMID:32874916|PMID:33176815|PMID:33209585|PMID:33340551|PMID:33413482|PMID:33532864|PMID:33583911|PMID:33643843|PMID:34132027|PMID:34277356|PMID:34420056|PMID:34652821|PMID:34859900|PMID:9140401|PMID:9497260|PMID:9536098|PMID:9710598|PMID:9781039 1309366 Pmm2 phosphomannomutase 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1319677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1309366 Pmm2 phosphomannomutase 2 gene DOID:1059 intellectual disability ISO RGD:1319677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1309366 Pmm2 phosphomannomutase 2 gene DOID:1059 intellectual disability ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:10527672|PMID:10801058|PMID:11156536|PMID:11589167|PMID:11891694|PMID:12705494|PMID:15714316|PMID:15844218|PMID:16199547|PMID:18948042|PMID:19862844|PMID:20301289|PMID:21541725|PMID:23430838|PMID:23806237|PMID:23988505|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28139241|PMID:28492532|PMID:9140401 1309366 Pmm2 phosphomannomutase 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1309366 Pmm2 phosphomannomutase 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319677 D RGD:1599132|PMID:11058896 20070117 RGD 1309366 Pmm2 phosphomannomutase 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319677 D RGD:1599134|PMID:10066032 20070117 RGD 1309366 Pmm2 phosphomannomutase 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 1309366 Pmm2 phosphomannomutase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319677 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:15844218|PMID:25355454|PMID:25497157|PMID:25741868|PMID:28492532|PMID:32635232|PMID:9140401 1309366 Pmm2 phosphomannomutase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309366 Pmm2 phosphomannomutase 2 gene DOID:630 genetic disease ISO RGD:1319677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11891694|PMID:11916319|PMID:12244009|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16435227|PMID:16540464|PMID:17166182|PMID:17186415|PMID:17451957|PMID:17920054|PMID:18203160|PMID:19357119|PMID:19862844|PMID:20301289|PMID:21228398|PMID:21541725|PMID:21949237|PMID:22012410|PMID:22975760|PMID:23430838|PMID:23430905|PMID:23988505|PMID:24033266|PMID:24498599|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26488408|PMID:27053713|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28566178|PMID:28940310|PMID:28954837|PMID:30740725|PMID:31117816|PMID:31474318|PMID:32581362|PMID:32635232|PMID:32860008|PMID:33413482|PMID:33532864|PMID:9140401|PMID:9497260|PMID:9781039 1309366 Pmm2 phosphomannomutase 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319677 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1309366 Pmm2 phosphomannomutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319677 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1309366 Pmm2 phosphomannomutase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 1309367 Wdr31 WD repeat domain 31 gene DOID:630 genetic disease ISO RGD:1319678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:7240710 20170222 OMIM 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:33532864 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:7240710 20171011 OMIM 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease PMID:25557779|PMID:25557780|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:30996265|PMID:32581362 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:8552786|PMID:24493795 20140429 RGD 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISS RGD:1551852 D RGD:13592920 20180518 MouseDO OMIM:268000 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347869 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1551852 D RGD:8552784|PMID:24339791 20140429 RGD 1309368 Crb2 crumbs cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25557779|PMID:25741868|PMID:27004616|PMID:27535533|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 1309369 Med30 mediator complex subunit 30 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1319681 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1309369 Med30 mediator complex subunit 30 gene DOID:206 hereditary multiple exostoses ISO RGD:1319681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 1309369 Med30 mediator complex subunit 30 gene DOID:630 genetic disease ISO RGD:1319681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309370 Ints5 integrator complex subunit 5 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 1309370 Ints5 integrator complex subunit 5 gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1603295 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 1309370 Ints5 integrator complex subunit 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309370 Ints5 integrator complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1603295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309370 Ints5 integrator complex subunit 5 gene DOID:630 genetic disease ISO RGD:1603295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309373 St3gal1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309373 St3gal1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1603709 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 1309374 Ermard ER membrane-associated RNA degradation gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1319689 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 1309374 Ermard ER membrane-associated RNA degradation gene DOID:1826 epilepsy ISO RGD:1319689 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309374 Ermard ER membrane-associated RNA degradation gene DOID:630 genetic disease ISO RGD:1319689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309374 Ermard ER membrane-associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:7240710 20140911 OMIM 1309374 Ermard ER membrane-associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 PMID:24056535|PMID:25741868|PMID:28492532 1309375 Nek1 NIMA-related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:11069733|PMID:21211617 20161019 RGD DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human) 1309375 Nek1 NIMA-related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:11072153|PMID:22499340 20161019 RGD DNA:missense, frameshift, nonsense mutations:cds,splice junction: 1309375 Nek1 NIMA-related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:21211617|PMID:22482978|PMID:22499340 1309375 Nek1 NIMA-related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:23757202|PMID:28492532|PMID:29068549 1309375 Nek1 NIMA-related kinase 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1319690 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:25741868 1309375 Nek1 NIMA-related kinase 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:21211617|PMID:25741868 1309375 Nek1 NIMA-related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:7240710 20180530 OMIM 1309375 Nek1 NIMA-related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:17576681|PMID:21211617|PMID:22499340|PMID:23757202|PMID:24033266|PMID:25492405|PMID:25741868|PMID:26945885|PMID:27455347|PMID:27530628|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28710492|PMID:28935222|PMID:29068549|PMID:29431110|PMID:30093141|PMID:3014367|PMID:30408610|PMID:32462798|PMID:33445179|PMID:9536098 1309375 Nek1 NIMA-related kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:1319691 D RGD:13592920 20180518 MouseDO OMIM:263200 1309375 Nek1 NIMA-related kinase 1 gene DOID:231 motor neuron disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:16199547|PMID:22499340|PMID:25741868|PMID:27455347|PMID:28089114|PMID:28492532|PMID:29068549|PMID:29431110 1309375 Nek1 NIMA-related kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26945885|PMID:27455347 1309375 Nek1 NIMA-related kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319690 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1309375 Nek1 NIMA-related kinase 1 gene DOID:614 lymphopenia ISO RGD:1319690 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28089114|PMID:28492532 1309375 Nek1 NIMA-related kinase 1 gene DOID:630 genetic disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309375 Nek1 NIMA-related kinase 1 gene DOID:65 connective tissue disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:22499340|PMID:25741868|PMID:28089114|PMID:28492532|PMID:29068549 1309375 Nek1 NIMA-related kinase 1 gene DOID:9007073 Cough ISO RGD:1319690 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28089114|PMID:28492532 1309375 Nek1 NIMA-related kinase 1 gene DOID:9009135 Amyotrophic Lateral Sclerosis Type 24 ISO RGD:1319690 D RGD:7240710 20230505 OMIM 1309375 Nek1 NIMA-related kinase 1 gene DOID:9009135 Amyotrophic Lateral Sclerosis Type 24 ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:27455347|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549|PMID:30408610 1309375 Nek1 NIMA-related kinase 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:29068549 1309376 Rec8 REC8 meiotic recombination protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1309376 Rec8 REC8 meiotic recombination protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319692 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31479588 1309376 Rec8 REC8 meiotic recombination protein gene DOID:14227 azoospermia ISO RGD:1319692 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1309376 Rec8 REC8 meiotic recombination protein gene DOID:1909 melanoma ISO RGD:1319692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1309376 Rec8 REC8 meiotic recombination protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1319692 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1309376 Rec8 REC8 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:1319692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309376 Rec8 REC8 meiotic recombination protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319692 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1309376 Rec8 REC8 meiotic recombination protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1309376 Rec8 REC8 meiotic recombination protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309378 Scap SREBF chaperone gene DOID:630 genetic disease ISO RGD:1604827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309378 Scap SREBF chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1604827 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 1309378 Scap SREBF chaperone gene DOID:9000808 Hypercholesterolemia IEP D RGD:1581819|PMID:16741953 20090610 RGD protein:increased expression:liver 1309378 Scap SREBF chaperone gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1309378 Scap SREBF chaperone gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5490977|PMID:20973890 20120321 RGD 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1319697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:2841 asthma ISO RGD:1319697 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319697 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:418 systemic scleroderma ISO RGD:1319697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:8893 psoriasis ISO RGD:1319697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 1309380 Tnip1 TNFAIP3 interacting protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193|PMID:19838195 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319699 D RGD:149735347|PMID:25195038 20210716 RGD 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:0050902 medulloblastoma ISO RGD:1319699 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:0080615 nephroma ISO RGD:1319699 D RGD:149735348|PMID:24481001 20210716 RGD DNA:mutations: : 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:7240710 20220406 OMIM 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:22717647|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23622242|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24628552|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24823459|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25231023|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25526195|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29633305|PMID:29641532|PMID:29660837|PMID:29698806|PMID:29706542|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29938629|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31278746|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9295070|PMID:9345104|PMID:9536098 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319699 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:10534 stomach cancer disease_progression ISO RGD:1319699 D RGD:149735323|PMID:18167183 20210714 RGD 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:11198 DiGeorge syndrome ISS RGD:1319700 D RGD:13592920 20180518 MouseDO OMIM:188400 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:12930 dilated cardiomyopathy ISS RGD:1319700 D RGD:13592920 20180518 MouseDO 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:1324 lung cancer exacerbates ISO RGD:1319700 D RGD:149735199|PMID:19903759 20210713 RGD 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:14228 oligospermia ISO RGD:1319699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:1612 breast cancer ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:32714280 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:1664 pineoblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pineoblastoma PMID:16199547|PMID:19556464|PMID:21266384|PMID:21882293|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28960912|PMID:30097050 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1319699 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:2394 ovarian cancer ISO RGD:1319699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:289 endometriosis ISO RGD:1319699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:3247 rhabdomyosarcoma ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19556464|PMID:21266384|PMID:24839956|PMID:25741868|PMID:26925222|PMID:28492532|PMID:28624956|PMID:28862265|PMID:30266945|PMID:33372952 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:3525 middle cerebral artery infarction IEP D RGD:11553310|PMID:26294080 20210723 RGD mRNA:decreased expression:brain: 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319699 D RGD:11552609|PMID:19556464 20210713 RGD DNA:mutations:cds 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319699 D RGD:11554173 20220412 CTD CTD Direct Evidence: marker/mechanism 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma PMID:19556464|PMID:21036787|PMID:21266384|PMID:21501861|PMID:23728841|PMID:24481001|PMID:24676357|PMID:24839956|PMID:24909177|PMID:25451712|PMID:25741868|PMID:26467025|PMID:26925222|PMID:28323992|PMID:28492532|PMID:28654427|PMID:28825729|PMID:28862265|PMID:30178239|PMID:30266945|PMID:30339877|PMID:32714280|PMID:33372952 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319700 D RGD:149735200|PMID:25500911 20210713 RGD 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:4791 supratentorial primitive neuroectodermal tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supratentorial primitive neuroectodermal tumor PMID:21882293|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26475046|PMID:26555935|PMID:26556299|PMID:26841698|PMID:26925222|PMID:26928971|PMID:27126690|PMID:27459524|PMID:28177962|PMID:28222777|PMID:28492532|PMID:28862265|PMID:29315962|PMID:29881993|PMID:30014022|PMID:30266945|PMID:30649606 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:5223 infertility ISO RGD:1319700 D RGD:150340620|PMID:25525274 20210819 RGD 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:630 genetic disease ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319699 D RGD:149735346|PMID:23868705 20210716 RGD associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human) 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:768 retinoblastoma exacerbates ISO RGD:1319700 D RGD:149735324|PMID:20019750 20210714 RGD DNA:deletion:haploinsufficiency 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:7240710 20220216 OMIM 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Euthyroid goiter PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21882293|PMID:22187960|PMID:23620094|PMID:24708902|PMID:24728327|PMID:24909177|PMID:25741868|PMID:26033159|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26577641|PMID:26925222|PMID:27459524|PMID:28323992|PMID:28492532|PMID:28524158|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29881993|PMID:30178239|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32291395|PMID:32714280|PMID:34291157|PMID:34313605|PMID:6261577|PMID:9295070|PMID:9345104 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:7240710 20190315 OMIM 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLOW SYNDROME PMID:19556464|PMID:21266384|PMID:24676357|PMID:24839956|PMID:25741868|PMID:28492532|PMID:28825729|PMID:28862265|PMID:30266945 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28166811|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:33718253|PMID:9536098 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32714280|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34313605|PMID:9536098 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9007188 Liver Neoplasms ISO RGD:1319699 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:24478143 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:7240710 20171011 OMIM 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 PMID:19556464|PMID:21266384|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28873162|PMID:30097050|PMID:30446821 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9008939 Breast Neoplasms ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:21266384|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29474644|PMID:32714280 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9256 colorectal cancer disease_progression ISO RGD:1319699 D RGD:149735326|PMID:24649159 20210714 RGD 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9256 colorectal cancer susceptibility ISO RGD:1319699 D RGD:149735345|PMID:30833603 20210716 RGD DNA:SNP: :rs3742330 A>G (human) 1309381 Dicer1 dicer 1 ribonuclease III gene DOID:9351 diabetes mellitus ISO RGD:1319700 D RGD:149735536|PMID:22216196 20210721 RGD 1309382 Ankrd46 ankyrin repeat domain 46 gene DOID:0111590 Cohen syndrome ISO RGD:1606443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1309382 Ankrd46 ankyrin repeat domain 46 gene DOID:630 genetic disease ISO RGD:1606443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309383 Cenpt centromere protein T gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309383 Cenpt centromere protein T gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 1309383 Cenpt centromere protein T gene DOID:630 genetic disease ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309383 Cenpt centromere protein T gene DOID:655 inherited metabolic disorder ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 1309383 Cenpt centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:7240710 20200101 OMIM 1309383 Cenpt centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies PMID:25741868|PMID:29228025 1309384 Rnf24 ring finger protein 24 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1319703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1309384 Rnf24 ring finger protein 24 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1309384 Rnf24 ring finger protein 24 gene DOID:630 genetic disease ISO RGD:1319703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309385 Flywch1 FLYWCH-type zinc finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1309385 Flywch1 FLYWCH-type zinc finger 1 gene DOID:1826 epilepsy ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309385 Flywch1 FLYWCH-type zinc finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309385 Flywch1 FLYWCH-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1346259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309386 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1309386 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1604315 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism 1309386 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1604315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 1309386 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1604315 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:28492532 1309386 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1604315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309386 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:9004342 Familial Temporal Epilepsy ISO RGD:1604315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy PMID:17576681|PMID:28492532|PMID:9536098 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606804 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:0111934 immunodeficiency 38 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:0111935 immunodeficiency 16 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:630 genetic disease ISO RGD:1606804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606804 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309387 Noc2l NOC2-like nucleolar associated transcriptional repressor gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309388 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 1309388 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:7240710 20170510 OMIM 1309388 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:26073777|PMID:28492532 1309388 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1607055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309388 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309388 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1309389 Ssh2 slingshot protein phosphatase 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1319710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1309389 Ssh2 slingshot protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1319710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1319711 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:0070080 schizophrenia 4 ISO RGD:1319711 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Schizophrenia 4 PMID:12217952 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1319711 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Proline dehydrogenase deficiency PMID:12217952|PMID:19736351|PMID:26978485|PMID:28492532 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:0111996 immunodeficiency 51 ISO RGD:1319711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:1059 intellectual disability ISO RGD:1319711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:11198 DiGeorge syndrome ISO RGD:1319711 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:11198 DiGeorge syndrome ISO RGD:1319711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:11372 megacolon ISO RGD:1319711 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:12583 velocardiofacial syndrome ISO RGD:1319711 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:12849 autistic disorder ISO RGD:1319711 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:1826 epilepsy ISO RGD:1319711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:5419 schizophrenia ISO RGD:1319711 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:612 primary immunodeficiency disease ISO RGD:1319711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:630 genetic disease ISO RGD:1319711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319711 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309390 Dgcr6 DiGeorge syndrome critical region gene 6 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1319711 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1309391 Tpd52l3 TPD52 like 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606756 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1309391 Tpd52l3 TPD52 like 3 gene DOID:630 genetic disease ISO RGD:1606756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309393 Ccdc97 coiled-coil domain containing 97 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1309393 Ccdc97 coiled-coil domain containing 97 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1309393 Ccdc97 coiled-coil domain containing 97 gene DOID:2340 craniosynostosis ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1309393 Ccdc97 coiled-coil domain containing 97 gene DOID:630 genetic disease ISO RGD:1602452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309393 Ccdc97 coiled-coil domain containing 97 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1309393 Ccdc97 coiled-coil domain containing 97 gene DOID:9269 maple syrup urine disease ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1309394 Cmtr2 cap methyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309394 Cmtr2 cap methyltransferase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1601859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1309394 Cmtr2 cap methyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309394 Cmtr2 cap methyltransferase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1601859 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 1309394 Cmtr2 cap methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309395 Polr2i RNA polymerase II subunit I gene DOID:0110222 Brugada syndrome 5 ISO RGD:1319717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1309395 Polr2i RNA polymerase II subunit I gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1309395 Polr2i RNA polymerase II subunit I gene DOID:630 genetic disease ISO RGD:1319717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309396 Tbx20 T-box transcription factor 20 gene DOID:0070315 hypoplastic right heart syndrome ISO RGD:1319719 D RGD:8554872 20180918 ClinVar ClinVar Annotator: match by term: Hypoplastic right heart syndrome 1309396 Tbx20 T-box transcription factor 20 gene DOID:0080333 aortic valve disease 1 ISO RGD:1319719 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28553164|PMID:30820038 1309396 Tbx20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:7240710 20130425 OMIM 1309396 Tbx20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 4 PMID:17668378|PMID:18834961|PMID:19074289|PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28492532|PMID:28553164|PMID:29089047|PMID:29517769|PMID:30820038 1309396 Tbx20 T-box transcription factor 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29089047|PMID:31333075|PMID:31568572 1309396 Tbx20 T-box transcription factor 20 gene DOID:12930 dilated cardiomyopathy ISS RGD:1319720 D RGD:13592920 20180518 MouseDO 1309396 Tbx20 T-box transcription factor 20 gene DOID:1657 ventricular septal defect ISO RGD:1319719 D RGD:155882594|PMID:30084275 20230131 RGD DNA:hypomethylation:promoter 1309396 Tbx20 T-box transcription factor 20 gene DOID:1682 congenital heart disease ISO RGD:1319719 D RGD:155882587|PMID:27572266 20230131 RGD mRNA,protein:decreased expression:heart (human) 1309396 Tbx20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:155882589|PMID:27034249 20230131 RGD DNA:SNP,haplotype:promoter: 1309396 Tbx20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:155882596|PMID:25487630 20230131 RGD DNA:SNPs:exon5: c.657A>C (rs3999941) 1309396 Tbx20 T-box transcription factor 20 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:1319719 D RGD:155882600|PMID:26675025 20230131 RGD DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) 1309396 Tbx20 T-box transcription factor 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1319719 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1309396 Tbx20 T-box transcription factor 20 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319719 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309396 Tbx20 T-box transcription factor 20 gene DOID:6000 congestive heart failure ISO RGD:1319719 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1309396 Tbx20 T-box transcription factor 20 gene DOID:630 genetic disease ISO RGD:1319719 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28049825|PMID:28492532|PMID:29089047|PMID:34426522 1309396 Tbx20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:155882584|PMID:31138201 20230131 RGD DNA:hypomethylation:promoter 1309396 Tbx20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:155882585|PMID:18275040 20230131 RGD mRNA:increased expression:heart (human) 1309396 Tbx20 T-box transcription factor 20 gene DOID:9003936 Cardiomegaly ISO RGD:1319719 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1309396 Tbx20 T-box transcription factor 20 gene DOID:9006205 Animal Disease Models ISO RGD:1319719 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1309396 Tbx20 T-box transcription factor 20 gene DOID:9007174 Ventricular Remodeling ISO RGD:1319719 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1309396 Tbx20 T-box transcription factor 20 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1319719 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319721 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319721 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:7240710 20130221 OMIM 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:16199547|PMID:17287286|PMID:17301081|PMID:17576681|PMID:20301762|PMID:20843780|PMID:23759946|PMID:24033266|PMID:24659738|PMID:24986829|PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:27913098|PMID:28492532|PMID:28749033|PMID:30315573|PMID:32404165|PMID:32718099|PMID:33231368|PMID:9536098 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:1059 intellectual disability ISO RGD:1319721 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1319721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:28492532|PMID:33231368 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:1319721 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1309397 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9970 obesity ISO RGD:1319721 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1309398 Klf1 KLF transcription factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1309398 Klf1 KLF transcription factor 1 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:1319723 D RGD:10769343|PMID:22965552 20160210 RGD mRNA:decreased expression:bone marrow, blood 1309398 Klf1 KLF transcription factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1309398 Klf1 KLF transcription factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11825066|PMID:11854167|PMID:16602100|PMID:17576681|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 1309398 Klf1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:7240710 20191009 OMIM 1309398 Klf1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:1659863|PMID:17576681|PMID:21055716|PMID:21778342|PMID:23125034|PMID:23522491|PMID:24033266|PMID:25741868|PMID:27013732|PMID:28102861|PMID:28492532|PMID:29200155|PMID:29300242|PMID:29396846|PMID:31536184|PMID:7795610|PMID:9536098 1309398 Klf1 KLF transcription factor 1 gene DOID:12241 beta thalassemia ISS RGD:1319724 D RGD:13592920 20180518 MouseDO OMIM:187550 | OMIM:603902 | OMIM:613985 1309398 Klf1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:10769342|PMID:20691777 20160210 RGD DNA:missense mutation:exon:p.E339D (1065A>T) (human) 1309398 Klf1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISS RGD:1319724 D RGD:13592920 20180518 MouseDO 1309398 Klf1 KLF transcription factor 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1319723 D RGD:11554173 20191015 CTD CTD Direct Evidence: marker/mechanism 1309398 Klf1 KLF transcription factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1319723 D RGD:10769343|PMID:22965552 20160210 RGD mRNA:decreased expression:bone marrow, blood 1309398 Klf1 KLF transcription factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1309398 Klf1 KLF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309398 Klf1 KLF transcription factor 1 gene DOID:74 hematopoietic system disease ISO RGD:1319723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20676099 1309398 Klf1 KLF transcription factor 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 1309398 Klf1 KLF transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:1319723 D RGD:10769345|PMID:12417757 20160211 RGD 1309398 Klf1 KLF transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319723 D RGD:10769344|PMID:19097174 20160210 RGD 1309399 Lamc3 laminin subunit gamma 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319725 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:21572417|PMID:28191889 1309399 Lamc3 laminin subunit gamma 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309399 Lamc3 laminin subunit gamma 3 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319725 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1309399 Lamc3 laminin subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33639934 1309399 Lamc3 laminin subunit gamma 3 gene DOID:1826 epilepsy ISO RGD:1319725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1309399 Lamc3 laminin subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1319725 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28191889|PMID:28492532 1309399 Lamc3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:7240710 20140911 OMIM 1309399 Lamc3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:16199547|PMID:18414213|PMID:21572413|PMID:23160955|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26802095|PMID:28492532|PMID:30266093|PMID:32902107|PMID:33639934 1309399 Lamc3 laminin subunit gamma 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319725 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 1309399 Lamc3 laminin subunit gamma 3 gene DOID:9008539 Perinatal Death ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25741868|PMID:28492532|PMID:33639934 1309399 Lamc3 laminin subunit gamma 3 gene DOID:936 brain disease ISO RGD:1319725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572413 1309400 Ift20 intraflagellar transport 20 gene DOID:630 genetic disease ISO RGD:1605017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1602711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602711 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602711 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602711 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:1602711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309401 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1309402 Rpl34 ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1319729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309403 Proser1 proline and serine rich 1 gene DOID:630 genetic disease ISO RGD:1319730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1319732 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:1059 intellectual disability ISO RGD:1319732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:630 genetic disease ISO RGD:1319732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309404 Gpr35 G protein-coupled receptor 35 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1309405 Fbxo5 F-box protein 5 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1319734 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 1309405 Fbxo5 F-box protein 5 gene DOID:630 genetic disease ISO RGD:1319734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0080855 Parkinsonism IEP D RGD:13824972|PMID:20403401 20181109 RGD 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:7240710 20190315 OMIM 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:14729820|PMID:17576681|PMID:22499348|PMID:25741868|PMID:28492532|PMID:30140060|PMID:33097395|PMID:9536098 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:1059 intellectual disability ISO RGD:1319736 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:10652 Alzheimer's disease onset ISO RGD:1319736 D RGD:13824970|PMID:28242297 20181109 RGD 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:3652 Leigh disease ISO RGD:1319736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:3652 Leigh disease ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:5723 optic atrophy ISO RGD:1319736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:630 genetic disease ISO RGD:1319736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:8552684|PMID:22903132 20181109 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792578|PMID:22591908 20181109 RGD associated with Diabetes Mellitus, Experimental 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9003936 Cardiomegaly IEP D RGD:7800726|PMID:24388463 20181109 RGD 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13824971|PMID:22387129 20181109 RGD mRNA, protein:decreased expression:brain 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6484699|PMID:20876714 20120702 RGD protein:decreased expression:dorsal root ganglia (rat) 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319736 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1309406 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9008939 Breast Neoplasms ISO RGD:1319736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1319738 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:10283 prostate cancer ISO RGD:1319738 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:630 genetic disease ISO RGD:1319738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1319738 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27806345 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319738 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1309407 Ing4 inhibitor of growth family, member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319738 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27806345 1309408 Mss51 MSS51 mitochondrial translational activator gene DOID:630 genetic disease ISO RGD:1319740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309409 Irgq immunity-related GTPase Q gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1309409 Irgq immunity-related GTPase Q gene DOID:10283 prostate cancer ISO RGD:1606733 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309409 Irgq immunity-related GTPase Q gene DOID:5419 schizophrenia ISO RGD:1606733 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309409 Irgq immunity-related GTPase Q gene DOID:630 genetic disease ISO RGD:1606733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309410 Smco4 single-pass membrane protein with coiled-coil domains 4 gene DOID:1059 intellectual disability ISO RGD:1601987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309410 Smco4 single-pass membrane protein with coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1601987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319743 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:7240710 20200819 OMIM 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy PMID:23105016|PMID:25741868|PMID:28492532 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:1588 thrombocytopenia ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:630 genetic disease ISO RGD:1319743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:25741868|PMID:28492532 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 1309411 Acbd5 acyl-CoA binding domain containing 5 gene DOID:906 peroxisomal disease ISS RGD:1319744 D RGD:13592920 20210211 MouseDO 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:1681 heart septal defect susceptibility ISO RGD:1319745 D RGD:1600967|PMID:12632326 20070402 RGD Atrioventricular septal defect;DNA:missense mutations 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:2843 long QT syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:630 genetic disease ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:9001355 Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome ISO RGD:1319745 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:9001355 Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome ISO RGD:1319745 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome PMID:12632326|PMID:24697899|PMID:28492532 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319745 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1319745 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:25741868|PMID:28492532 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:7240710 20230517 OMIM 1309412 Creld1 cysteine-rich with EGF-like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition PMID:11376440|PMID:12632326|PMID:15857420|PMID:17036335|PMID:21080147|PMID:23040494|PMID:24697899|PMID:24927998|PMID:25516202|PMID:25741868|PMID:28166811|PMID:28492532 1309413 Nup205 nucleoporin 205 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1319746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 1309413 Nup205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:7240710 20190315 OMIM 1309413 Nup205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 13 PMID:25741868|PMID:26878725|PMID:28492532 1309413 Nup205 nucleoporin 205 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319746 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309413 Nup205 nucleoporin 205 gene DOID:5408 Paget's disease of bone ISO RGD:1319746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 1309413 Nup205 nucleoporin 205 gene DOID:630 genetic disease ISO RGD:1319746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309413 Nup205 nucleoporin 205 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319746 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1309414 Zswim8 zinc finger, SWIM-type containing 8 gene DOID:630 genetic disease ISO RGD:1344378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1319748 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:7240710 20130425 OMIM 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25064839|PMID:25640679|PMID:25741868|PMID:26508570|PMID:27314497|PMID:27633793|PMID:28166811|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31155445|PMID:31820221|PMID:32888943|PMID:9536098 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31820221|PMID:9536098 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:2987 familial Mediterranean fever ISO RGD:1319748 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Periodic fever syndrome PMID:28492532 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:4450 renal cell carcinoma ISO RGD:1319748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:630 genetic disease ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570|PMID:28492532 1309415 Nlrp12 NLR family, pyrin domain containing 12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 PMID:25741868|PMID:28492532 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:7240710 20190315 OMIM 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868|PMID:25851414|PMID:26553276|PMID:28492532|PMID:29126765|PMID:30177229|PMID:30869852|PMID:31665838|PMID:32007496|PMID:32989326|PMID:33168986|PMID:33972171 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:25741868|PMID:28492532 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:7240710 20140903 OMIM 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:16199547|PMID:17576681|PMID:22499341|PMID:22833457|PMID:24161539|PMID:25558065|PMID:25640679|PMID:25741868|PMID:25851414|PMID:26553276|PMID:27095821|PMID:27549011|PMID:27652284|PMID:28043061|PMID:28419689|PMID:28492532|PMID:29126765|PMID:29302074|PMID:30177229|PMID:30250868|PMID:30634555|PMID:30869852|PMID:31329004|PMID:31665838|PMID:31692161|PMID:32007496|PMID:32597768|PMID:32774346|PMID:32989326|PMID:33168986|PMID:33176815|PMID:33972171|PMID:9536098 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1342814 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1342814 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22833457|PMID:25741868|PMID:28419689|PMID:28492532|PMID:29126765|PMID:32007496|PMID:32989326 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1342814 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 1309416 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 1309417 Tmem87a transmembrane protein 87A gene DOID:2717 Bloom syndrome ISO RGD:1603672 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309417 Tmem87a transmembrane protein 87A gene DOID:630 genetic disease ISO RGD:1603672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309417 Tmem87a transmembrane protein 87A gene DOID:9256 colorectal cancer ISO RGD:1603672 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309419 Kdm2a lysine demethylase 2A gene DOID:1059 intellectual disability ISO RGD:1319753 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309419 Kdm2a lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319753 D RGD:9588265|PMID:24482232 20141023 RGD human gene in a mouse model 1309419 Kdm2a lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319753 D RGD:9588263|PMID:24200691 20141023 RGD mRNA:increased expression:stomach (human) 1309419 Kdm2a lysine demethylase 2A gene DOID:6000 congestive heart failure ISO RGD:1616561 D RGD:9588275|PMID:25181347 20141023 RGD protein:altered localization:promoter (mouse) 1309419 Kdm2a lysine demethylase 2A gene DOID:630 genetic disease ISO RGD:1319753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309419 Kdm2a lysine demethylase 2A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309419 Kdm2a lysine demethylase 2A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319753 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1309419 Kdm2a lysine demethylase 2A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309419 Kdm2a lysine demethylase 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319753 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1309421 Kctd12 potassium channel tetramerization domain containing 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319755 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309421 Kctd12 potassium channel tetramerization domain containing 12 gene DOID:630 genetic disease ISO RGD:1319755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309423 Stx16 syntaxin 16 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1319758 D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 1309423 Stx16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:7240710 20170531 OMIM 1309423 Stx16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:14561710|PMID:15579741|PMID:15800843|PMID:25741868|PMID:28492532 1309423 Stx16 syntaxin 16 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1319758 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1309423 Stx16 syntaxin 16 gene DOID:630 genetic disease ISO RGD:1319758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:0050855 renal fibrosis IMP D RGD:9587793|PMID:22326221 20171101 RGD 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:7240710 20130221 OMIM 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:10498624|PMID:10598813|PMID:11499676|PMID:16199547|PMID:16937026|PMID:17576681|PMID:18625437|PMID:19624736|PMID:19683193|PMID:19953534|PMID:20167518|PMID:21900546|PMID:23821607|PMID:24033266|PMID:24931457|PMID:25640679|PMID:25741868|PMID:25937994|PMID:26272171|PMID:28492532|PMID:28750028|PMID:29454792|PMID:30290665|PMID:30470980|PMID:30716179|PMID:32081864|PMID:32281309|PMID:33746979|PMID:7795241|PMID:8781442|PMID:8879195|PMID:9536098 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1319760 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 PMID:16937026|PMID:23821607|PMID:25741868|PMID:28492532 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319760 D RGD:2314452|PMID:10873554 20091116 RGD protein:altered localization 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:10763 hypertension IEP D RGD:2314430|PMID:19307699 20091113 RGD protein:increased expression:heart left ventricle 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:11832 visual epilepsy IDA D RGD:2314448|PMID:15606902 20091116 RGD protein:altered localization 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319760 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:3265 chronic granulomatous disease ISO RGD:1319760 D RGD:1624401|PMID:2393022 20070510 RGD 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:3265 chronic granulomatous disease ISO RGD:1319760 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:576 proteinuria IMP D RGD:9587793|PMID:22326221 20171101 RGD 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:630 genetic disease ISO RGD:1319760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:41404710|PMID:17897462 20210204 RGD DNA:polymorphism, SNP:cds (rs789181) (human) 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2314450|PMID:14644473 20091116 RGD protein:increased expression:spinal cord 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9000955 Acute Otitis Media ISO RGD:8925847 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2314451|PMID:14514646 20091116 RGD protein:altered localization:glomerulus 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314434|PMID:18061195 20091113 RGD protein:increased expression:heart, membrane fraction 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9007730 Burns IEP D RGD:2314453|PMID:9329126 20091116 RGD protein:increased expression:neutrophil 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319760 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319760 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309424 Ncf2 neutrophil cytosolic factor 2 gene DOID:9970 obesity IEP D RGD:2314435|PMID:17515452 20091113 RGD protein:increased expression:artery 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:7240710 20140911 OMIM 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 PMID:11565064|PMID:16199547|PMID:16909383|PMID:17576681|PMID:21421862|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:9536098 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1298223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1298223 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:11830 myopia ISO RGD:1298223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1298223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1298223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11565064|PMID:16909383 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1298223 D RGD:1600949|PMID:11565064 20070402 RGD DNA:mutation 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:5679 retinal disease ISO RGD:1298223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16909383|PMID:17576681|PMID:21421862|PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:9536098 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:8398 osteoarthritis ISS RGD:1319762 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:7240710 20140903 OMIM 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4 PMID:16199547|PMID:16909383|PMID:20301479|PMID:21421862|PMID:23967202|PMID:25741868|PMID:27959697|PMID:28492532 1309425 Col9a1 collagen type IX alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 1309426 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319763 D RGD:243065273|PMID:24086444 20230417 RGD protein:decreased expression:heart right ventricle (human) 1309426 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:17033975|PMID:17186466|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25569433|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29367541|PMID:29802319|PMID:31024045|PMID:31042466|PMID:31333075|PMID:31402444|PMID:31568572|PMID:7971964 1309426 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319764 D RGD:243065269|PMID:27834139 20230417 RGD protein:decreased expression:myocardium of ventricle (mouse) 1309426 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319764 D RGD:265253172|PMID:27412010 20230418 RGD protein:decreased expression:cardiac ventricle (mouse) 1309426 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1319763 D RGD:243065272|PMID:25497880 20230417 RGD DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) 1309426 Dsc2 desmocollin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1319763 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:26138720|PMID:26220970|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29367541|PMID:29641836|PMID:29802319|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31983221|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33684294|PMID:34135346|PMID:7971964|PMID:9536098 1309426 Dsc2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31042466|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33652588|PMID:33662488|PMID:33684294|PMID:34135346|PMID:35276540|PMID:35470680|PMID:36293497|PMID:7971964|PMID:9536098 1309426 Dsc2 desmocollin 2 gene DOID:0060319 cardiac arrest ISO RGD:1319763 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 1309426 Dsc2 desmocollin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:23299917|PMID:25637381|PMID:25741868|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1319763 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 1309426 Dsc2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:7240710 20130221 OMIM 1309426 Dsc2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22458570|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:7971964|PMID:9536098 1309426 Dsc2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31042466|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:35470680|PMID:36293497|PMID:7971964|PMID:9536098 1309426 Dsc2 desmocollin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 1309426 Dsc2 desmocollin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 1309426 Dsc2 desmocollin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1319763 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1319763 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:1059 intellectual disability ISO RGD:1319763 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309426 Dsc2 desmocollin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21606396|PMID:21636032|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:27930701|PMID:28492532|PMID:29255176|PMID:30790397|PMID:31970460 1309426 Dsc2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy IEP D RGD:264347602|PMID:26708424 20230418 RGD protein:increased expression:heart (rat) 1309426 Dsc2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319763 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:2843 long QT syndrome ISO RGD:1319763 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1309426 Dsc2 desmocollin 2 gene DOID:630 genetic disease ISO RGD:1319763 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:23911551|PMID:25741868|PMID:28492532 1309426 Dsc2 desmocollin 2 gene DOID:9003936 Cardiomegaly IEP D RGD:264347602|PMID:26708424 20230418 RGD protein:increased expression:heart (rat) 1309426 Dsc2 desmocollin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1319763 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 1309426 Dsc2 desmocollin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1309426 Dsc2 desmocollin 2 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1319763 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:25637381|PMID:25741868|PMID:26656175|PMID:28492532|PMID:28798025|PMID:31042466 1309426 Dsc2 desmocollin 2 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:0050453 lissencephaly ISO RGD:1602407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:11425694|PMID:23001566|PMID:25741868|PMID:29671837 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1602407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19465910 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:0090132 complex cortical dysplasia with other brain malformations 7 ISO RGD:1602407 D RGD:7240710 20130221 OMIM 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:0090132 complex cortical dysplasia with other brain malformations 7 ISO RGD:1602407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 PMID:11425694|PMID:18414213|PMID:19465910|PMID:22333901|PMID:23001566|PMID:25059107|PMID:25741868|PMID:26467025|PMID:26732629|PMID:28492532|PMID:29671837 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:0090137 complex cortical dysplasia with other brain malformations 1 ISO RGD:1602407 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1 PMID:25741868 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:305 carcinoma ISO RGD:1602407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:630 genetic disease ISO RGD:1602407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22591407|PMID:23001566|PMID:25741868|PMID:26467025|PMID:26732629|PMID:28013290|PMID:28835377|PMID:9628483 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1602407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1309427 Tubb2b tubulin, beta 2B class IIb gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1602407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1309428 Slc35d3 solute carrier family 35, member D3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1319766 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1309428 Slc35d3 solute carrier family 35, member D3 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319766 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1309428 Slc35d3 solute carrier family 35, member D3 gene DOID:630 genetic disease ISO RGD:1319766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309428 Slc35d3 solute carrier family 35, member D3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 1309431 Adgrb2 adhesion G protein-coupled receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1319770 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309431 Adgrb2 adhesion G protein-coupled receptor B2 gene DOID:630 genetic disease ISO RGD:1319770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309431 Adgrb2 adhesion G protein-coupled receptor B2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1319770 D RGD:8554872 20180213 ClinVar ClinVar Annotator: match by term: Progressive spastic paraparesis PMID:28891236 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:7240710 20190911 OMIM 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:8554872 20190910 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 PMID:30358850 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:1540 parathyroid carcinoma ISO RGD:1319772 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:3755 antithrombin III deficiency ISO RGD:1319772 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:1319772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1309432 Mrps14 mitochondrial ribosomal protein S14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319772 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319774 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:7240710 20140911 OMIM 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 PMID:14660610|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:32860008|PMID:33107650|PMID:615030 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319774 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:1826 epilepsy ISO RGD:1319774 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14660610|PMID:23176821|PMID:25741868|PMID:28492532|PMID:29034544|PMID:33107650 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:607 paraplegia ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:14660610|PMID:16199547|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:615030 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1319774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1319774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319774 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1309433 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176821|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29034544 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1319777 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532|PMID:31681265 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:7240710 20150304 OMIM 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:0112103 Sotos syndrome 1 ISO RGD:1319777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18523010|PMID:25741868|PMID:28492532|PMID:31681265|PMID:31985013|PMID:9536098 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31681265 1309435 Nhp2 NHP2 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1319777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319779 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:24595071|PMID:25741868|PMID:28492532 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:7240710 20190315 OMIM 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 PMID:15159508|PMID:22499348|PMID:25741868|PMID:28492532|PMID:9837812 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:1059 intellectual disability ISO RGD:1319779 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:13533 osteopetrosis ISO RGD:1319779 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Osteopetrosis 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:3652 Leigh disease ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:24595071|PMID:25326637|PMID:25741868|PMID:28492532|PMID:9837812 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:630 genetic disease ISO RGD:1319779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28492532 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:8398 osteoarthritis ISO RGD:1319779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:9837812 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319779 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309436 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309437 Cmss1 cms1 ribosomal small subunit homolog gene DOID:630 genetic disease ISO RGD:1601841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:11552867|PMID:27426733 20221115 RGD DNA:missense mutations: :multiple (human) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:7240710 20190315 OMIM 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 PMID:25741868|PMID:25899317|PMID:27426733|PMID:28492532 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1319782 D RGD:2298803|PMID:17785553 20080725 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:11520 benign hypertensive renal disease ISO RGD:1319782 D RGD:155791449|PMID:34584221 20221219 RGD protein:increased expression:cortex of kidney (human) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319782 D RGD:155646134|PMID:27249171 20221230 RGD protein:increased phosphorylation:heart (human) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1319783 D RGD:155646134|PMID:27249171 20221108 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319782 D RGD:155646134|PMID:27249171 20221230 RGD protein:increased phosphorylation:heart (human) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:13619 extrahepatic cholestasis ISO RGD:1319782 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:155791642|PMID:32078472 20221230 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:155804272|PMID:32382778 20230112 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:155804283|PMID:34628598 20230114 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:155804284|PMID:32349637 20230114 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:2316 brain ischemia treatment ISO RGD:1319783 D RGD:155882442|PMID:21475303 20230117 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:2349 arteriosclerosis ameliorates IMP D RGD:155804282|PMID:35078016 20230114 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319783 D RGD:155663371|PMID:34331613 20221114 RGD mRNA, protein:increased expression:lung (mouse) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:3393 coronary artery disease ISO RGD:1319782 D RGD:155791451|PMID:32495070 20221219 RGD associated with hypothyroidism;mRNA:decreased expression:venous blood (human) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:384 Wolff-Parkinson-White syndrome ISS RGD:1319783 D RGD:13592920 20180518 MouseDO OMIM:194200 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:4724 brain edema ISO RGD:1319783 D RGD:11074637|PMID:26347470 20230116 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:4905 pancreatic carcinoma ISO RGD:1319782 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction IEP D RGD:2298758|PMID:16183734 20230103 RGD mRNA, protein:increased expression:myocardium (rat) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction treatment IEP D RGD:11073666|PMID:27121011 20230202 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1319783 D RGD:11534146|PMID:25278099 20221219 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1319783 D RGD:155804285|PMID:10802712 20230114 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure treatment ISO RGD:1319783 D RGD:155791673|PMID:26706286 20230104 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:784 chronic kidney disease IEP D RGD:155804294|PMID:32581266 20230116 RGD protein:increased expression:aorta (rat) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:155804269|PMID:29273596 20230112 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:11552967|PMID:27426734 20221219 RGD DNA:missense mutations, deletions:CDS:multiple (human) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:7240710 20190315 OMIM 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome PMID:20186786|PMID:25741868|PMID:27426733|PMID:27426734|PMID:28492532|PMID:29467388|PMID:32105826 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment IEP D RGD:155791672|PMID:27000704 20230104 RGD associated with Subarachnoid Hemorrhage 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment IMP D RGD:155804286|PMID:26100626 20230114 RGD associated with Subarachnoid Hemorrhage 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1319783 D RGD:155882440|PMID:33414375 20230117 RGD associated with Subarachnoid Hemorrhage 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9001820 Pulmonary Arterial Hypertension treatment IEP D RGD:155804297|PMID:35582418 20230116 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1319783 D RGD:155804280|PMID:30076625 20230113 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury exacerbates ISO RGD:1319783 D RGD:155882441|PMID:30622220 20230117 RGD protein:increased phosphorylation:liver (mouse) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9002202 Opsismodysplasia ISO RGD:1319782 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:25741868 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9002220 Forney Robinson Pascoe Syndrome ISO RGD:1319782 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:1319782 D RGD:2298805|PMID:12967473 20080725 RGD based one the lack of correlation to loss of heterozygosity (LOH) in humans 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1319783 D RGD:155804300|PMID:29143862 20230116 RGD associated with obesity;protein:increased phosphorylation:heart (mouse) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis treatment IEP D RGD:155791675|PMID:32543140 20230104 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:155804275|PMID:32734729 20230112 RGD protein:increased expression:brain (rat) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ameliorates ISO RGD:1319783 D RGD:155804273|PMID:29138854 20230112 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly IEP D RGD:155791647|PMID:30854566 20230103 RGD mRNA:increased expression:wall of left ventricle (rat) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1319783 D RGD:155791643|PMID:32971071 20230102 RGD protein:increased phosphorylation:heart (mouse) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1319783 D RGD:155791649|PMID:27956576 20230103 RGD protein:increased phosphorylation:heart (mouse) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1319783 D RGD:155791668|PMID:35490166 20230104 RGD protein:increased phosphorylation:heart (mouse) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1319783 D RGD:155791650|PMID:30407523 20230103 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:155804266|PMID:28821620 20230112 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1319783 D RGD:11555743|PMID:26891723 20230104 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1319783 D RGD:155791644|PMID:31885808 20230102 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1319783 D RGD:155791674|PMID:34733837 20230104 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9004994 Embryo Loss ISO RGD:1319783 D RGD:155663421|PMID:22972987 20221116 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:155883162|PMID:22146585 20230202 RGD associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat) 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9007096 Stroke treatment ISO RGD:1319783 D RGD:155791452|PMID:33434616 20221219 RGD 1309438 Map3k7 mitogen activated protein kinase kinase kinase 7 gene DOID:9007346 Cachexia treatment IMP D RGD:155791671|PMID:30554141 20230104 RGD associated with Pulmonary Arterial Hypertension 1309439 Klhdc7a kelch domain containing 7A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309439 Klhdc7a kelch domain containing 7A gene DOID:630 genetic disease ISO RGD:1606164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309439 Klhdc7a kelch domain containing 7A gene DOID:9008939 Breast Neoplasms ISO RGD:1606164 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1309441 Lsm12 LSM12 homolog gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1606981 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 1309441 Lsm12 LSM12 homolog gene DOID:630 genetic disease ISO RGD:1606981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080016 spina bifida ISO RGD:1319787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21404367 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2373757 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:7240710 20230505 OMIM 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:20558380|PMID:25741868 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319787 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1319787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1319787 D RGD:2298799|PMID:12011999 20080724 RGD 1309442 Vangl2 VANGL planar cell polarity protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319787 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309443 Vps8 VPS8 subunit of CORVET complex gene DOID:0111546 Currarino syndrome ISO RGD:1603690 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1309443 Vps8 VPS8 subunit of CORVET complex gene DOID:630 genetic disease ISO RGD:1603690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309443 Vps8 VPS8 subunit of CORVET complex gene DOID:9006836 Contracture ISO RGD:1603690 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 1309444 Bicd1 BICD cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1319790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1319792 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:12515255|PMID:28041643 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319792 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:29207047 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15192030|PMID:15494742|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27820952|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31015497|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1319792 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy PMID:10958761|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:29186038|PMID:30718709|PMID:33546218|PMID:9054934 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050795 cone dystrophy ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10880298|PMID:10958761|PMID:16103129|PMID:20335603|PMID:22427542|PMID:22968130|PMID:23134348|PMID:23755871|PMID:23940504|PMID:24265693|PMID:24938718|PMID:25312043|PMID:25346251|PMID:25474345|PMID:25525159|PMID:25698705|PMID:25741868|PMID:26593885|PMID:26780318|PMID:28041643|PMID:28118664|PMID:28224992|PMID:28341476|PMID:28492532|PMID:30060493|PMID:30190494|PMID:30718709|PMID:31522899|PMID:31736247|PMID:32783370|PMID:33546218|PMID:9054934|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25326637|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26764160|PMID:26766544|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28166811|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31456290|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31814693|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:32783370|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33301772|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30578500|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:31968401|PMID:32036094|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33732702|PMID:34008892|PMID:34214897|PMID:35608843|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:7240710 20130425 OMIM 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19217903|PMID:20981092|PMID:22264887|PMID:22589445|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24409374|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:29925512|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:7240710 20130425 OMIM 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 19 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17576681|PMID:17724221|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20128570|PMID:20554613|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27353947|PMID:27535533|PMID:27583828|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29854428|PMID:29925512|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30576320|PMID:30578500|PMID:30670881|PMID:30718709|PMID:30834176|PMID:31212395|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31766579|PMID:32235935|PMID:32278709|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9070931|PMID:9295268|PMID:92952680|PMID:9425888|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:10958763|PMID:11017087|PMID:12037008|PMID:12796258|PMID:16103129|PMID:18285826|PMID:19074458|PMID:19217903|PMID:20696155|PMID:21786275|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23755871|PMID:23769331|PMID:24033266|PMID:24265693|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26527198|PMID:26593885|PMID:26780318|PMID:27535533|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31522899|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:7240710 20130221 OMIM 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27535533|PMID:27583828|PMID:27596865|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30820146|PMID:30834176|PMID:30902645|PMID:31129250|PMID:31212395|PMID:31318848|PMID:31522899|PMID:31576780|PMID:31766579|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:32845050|PMID:33090715|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8547535|PMID:23701314 20140217 RGD 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32531858|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1319792 D RGD:1598552|PMID:9466990 20061204 RGD 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10871 age related macular degeneration ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34214897|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:1242 globe disease ISO RGD:1319792 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:11527935|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:29925512|PMID:33546218 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:1432 blindness ISO RGD:1319792 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Blindness PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10090887|PMID:10711710|PMID:10958761|PMID:11527935|PMID:11687513|PMID:19074458|PMID:21873672|PMID:23755871|PMID:23769331|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:25922843|PMID:26103963|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30718709|PMID:30834176|PMID:31522899|PMID:31766579|PMID:33546218|PMID:9781034 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration ISO RGD:1319792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10090887|PMID:10206579|PMID:10458172|PMID:10634594|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20960624|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26229699|PMID:26261413|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32619608|PMID:32783370|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:1319792 D RGD:1598551|PMID:9295268 20061204 RGD 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:574 peripheral nervous system disease ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15516930|PMID:15579991|PMID:16103129|PMID:16400609|PMID:17576681|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20029649|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21786275|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661473|PMID:23144455|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25474345|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:27535533|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1319792 D RGD:7829712|PMID:22661473 20140122 RGD DNA:mutation:exon:p.G1961E 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1616873 D RGD:7829710|PMID:19553623 20140122 RGD 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:7829713|PMID:16546111 20140122 RGD DNA:mutations:cds: 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16896346|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20852892|PMID:20960624|PMID:20981092|PMID:21293320|PMID:21296825|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23341817|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24632595|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25681002|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28147405|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:31015497|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31766579|PMID:31884623|PMID:31934596|PMID:31968401|PMID:32016942|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32783370|PMID:32821503|PMID:33090715|PMID:33129279|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:33691693|PMID:33732702|PMID:34008892|PMID:34073554|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:870 neuropathy ISO RGD:1319792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:9054934 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:25741868|PMID:28492532 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1319792 D RGD:7829711|PMID:18024811 20140122 RGD DNA:mutations:multiple: 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy, concentric annular PMID:10090887|PMID:10958761|PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25097241|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26261413|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29461686|PMID:29925512|PMID:30576320|PMID:30718709|PMID:32235935|PMID:33546218 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000343 Vision Disorders ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10958761|PMID:10958763|PMID:11702214|PMID:15192030|PMID:16199547|PMID:24550365|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085|PMID:31212395 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9005690 Mandibulofacial Dysostosis with Mental Deficiency ISO RGD:1319792 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency PMID:10396622|PMID:11017087|PMID:11527935|PMID:11726554|PMID:15579991|PMID:16682602|PMID:18854780|PMID:19074458|PMID:23419329|PMID:25283059|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:33546218|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:7240710 20130221 OMIM 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31015497|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:32036094 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33732702|PMID:34008892|PMID:34214897|PMID:35608843|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1616873 D RGD:7815046|PMID:18463687 20140121 RGD 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:7815045|PMID:22328824 20140121 RGD DNA:mutations:multiple: 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:7829716|PMID:24342785 20140122 RGD DNA:mutation:exon:c.2041C>T(human) 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 treatment ISO RGD:1319792 D RGD:7815046|PMID:18463687 20140121 RGD 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1319792 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11017087|PMID:11527935|PMID:19265867|PMID:22264887|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29925512|PMID:30576320|PMID:33546218|PMID:9054934 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1319792 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:10958761|PMID:11385708|PMID:24938718|PMID:25312043|PMID:25544989|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:28947085|PMID:30718709|PMID:33546218|PMID:9973280 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9296 cleft lip ISO RGD:1319792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 1309445 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9335 scotoma ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Central scotoma PMID:10958761|PMID:16199547|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085 1309446 Intu inturned planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:27158779|PMID:29068549 1309446 Intu inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:7240710 20190315 OMIM 1309446 Intu inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII PMID:25741868|PMID:27158779|PMID:28492532 1309446 Intu inturned planar cell polarity protein gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1319793 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 1309446 Intu inturned planar cell polarity protein gene DOID:12712 nephronophthisis ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:27158779|PMID:28492532 1309446 Intu inturned planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1319793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309446 Intu inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:7240710 20190315 OMIM 1309446 Intu inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28492532 1309446 Intu inturned planar cell polarity protein gene DOID:9003244 Mohr Syndrome ISO RGD:1319793 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome II PMID:27158779 1309447 Nptx2 neuronal pentraxin 2 gene DOID:0060001 withdrawal disorder ISO RGD:1319794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19084905 1309447 Nptx2 neuronal pentraxin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319794 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309447 Nptx2 neuronal pentraxin 2 gene DOID:630 genetic disease ISO RGD:1319794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309448 Ltbr lymphotoxin beta receptor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1309448 Ltbr lymphotoxin beta receptor gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:1319795 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 1309448 Ltbr lymphotoxin beta receptor gene DOID:0080526 bronchiectasis 1 ISO RGD:1319795 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 1309448 Ltbr lymphotoxin beta receptor gene DOID:0080527 bronchiectasis 2 ISO RGD:1319795 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:25741868 1309448 Ltbr lymphotoxin beta receptor gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319795 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1309448 Ltbr lymphotoxin beta receptor gene DOID:0111621 Temtamy syndrome ISO RGD:1319795 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1309448 Ltbr lymphotoxin beta receptor gene DOID:12365 malaria ISO RGD:1319795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15788153 1309448 Ltbr lymphotoxin beta receptor gene DOID:630 genetic disease ISO RGD:1319795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309448 Ltbr lymphotoxin beta receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1319795 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 1309448 Ltbr lymphotoxin beta receptor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319795 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1309449 Rxfp2 relaxin family peptide receptor 2 gene DOID:11383 cryptorchidism ISO RGD:1319797 D RGD:1600187|PMID:12217959 20070301 RGD bilateral cryptorchidism, OMIM:219050 1309449 Rxfp2 relaxin family peptide receptor 2 gene DOID:11383 cryptorchidism ISO RGD:1319797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:12217959|PMID:12970298|PMID:20636340|PMID:25741868 1309449 Rxfp2 relaxin family peptide receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:1319797 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1309449 Rxfp2 relaxin family peptide receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 1309449 Rxfp2 relaxin family peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1319797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309450 Ppp4r3b protein phosphatase 4, regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1603387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309451 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309451 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309451 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319800 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309451 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1309451 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309452 Nipal4 NIPA-like domain containing 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:2306343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31532840|PMID:33786896 1309452 Nipal4 NIPA-like domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:2306343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 1309452 Nipal4 NIPA-like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:7240710 20130221 OMIM 1309452 Nipal4 NIPA-like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31532840|PMID:33786896 1309452 Nipal4 NIPA-like domain containing 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:2306343 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 1309452 Nipal4 NIPA-like domain containing 4 gene DOID:630 genetic disease ISO RGD:2306343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309453 Lrrc71 leucine rich repeat containing 71 gene DOID:1540 parathyroid carcinoma ISO RGD:1601719 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309453 Lrrc71 leucine rich repeat containing 71 gene DOID:630 genetic disease ISO RGD:1601719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309453 Lrrc71 leucine rich repeat containing 71 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601719 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309454 Lix1 limb and CNS expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309454 Lix1 limb and CNS expressed 1 gene DOID:630 genetic disease ISO RGD:1343566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309454 Lix1 limb and CNS expressed 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343566 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309454 Lix1 limb and CNS expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309455 Stk38 serine/threonine kinase 38 gene DOID:0050553 JMP syndrome ISO RGD:1319806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309455 Stk38 serine/threonine kinase 38 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319806 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 1309455 Stk38 serine/threonine kinase 38 gene DOID:630 genetic disease ISO RGD:1319806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309456 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1309456 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309456 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:41410777|PMID:21255763 20210212 RGD DNA:missense mutation:CDS:p.D390G (human) 1309456 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:7240710 20140911 OMIM 1309456 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:17576681|PMID:21255763|PMID:24034276|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:33751860|PMID:9536098 1309456 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1309457 Med31 mediator complex subunit 31 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 1309457 Med31 mediator complex subunit 31 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343042 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1309457 Med31 mediator complex subunit 31 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1343042 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 1309457 Med31 mediator complex subunit 31 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1309457 Med31 mediator complex subunit 31 gene DOID:630 genetic disease ISO RGD:1343042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309458 Aldh1l2 aldehyde dehydrogenase 1 family, member L2 gene DOID:0080208 non-alcoholic fatty liver disease ISS RGD:1551620 D RGD:13592920 20210401 MouseDO OMIM:613282 | OMIM:613387 1309458 Aldh1l2 aldehyde dehydrogenase 1 family, member L2 gene DOID:0080600 COVID-19 ISO RGD:1345617 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309458 Aldh1l2 aldehyde dehydrogenase 1 family, member L2 gene DOID:630 genetic disease ISO RGD:1345617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309458 Aldh1l2 aldehyde dehydrogenase 1 family, member L2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309458 Aldh1l2 aldehyde dehydrogenase 1 family, member L2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345617 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1309459 Glyr1 glyoxylate reductase 1 homolog gene DOID:0050651 atrioventricular septal defect ISS RGD:1319811 D RGD:13592920 20220602 MouseDO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 1309459 Glyr1 glyoxylate reductase 1 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1606767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1309459 Glyr1 glyoxylate reductase 1 homolog gene DOID:630 genetic disease ISO RGD:1606767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309460 Rig1 RNA sensor RIG-1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1309460 Rig1 RNA sensor RIG-1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1309460 Rig1 RNA sensor RIG-1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1309460 Rig1 RNA sensor RIG-1 gene DOID:1883 hepatitis C ISO RGD:1319812 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 1309460 Rig1 RNA sensor RIG-1 gene DOID:2365 West Nile encephalitis ISO RGD:1319813 D RGD:126781836|PMID:24173226 20210421 RGD mRNA:increased expression:brain 1309460 Rig1 RNA sensor RIG-1 gene DOID:630 genetic disease ISO RGD:1319812 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309460 Rig1 RNA sensor RIG-1 gene DOID:8893 psoriasis ISO RGD:1319812 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 1309460 Rig1 RNA sensor RIG-1 gene DOID:9000371 influenza A ISO RGD:1319813 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 1309460 Rig1 RNA sensor RIG-1 gene DOID:9000918 Disease Progression ISO RGD:1319812 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 1309460 Rig1 RNA sensor RIG-1 gene DOID:9001488 Human Influenza ISO RGD:1319812 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1309460 Rig1 RNA sensor RIG-1 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1319812 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:25780039 1309460 Rig1 RNA sensor RIG-1 gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:7240710 20170412 OMIM 1309460 Rig1 RNA sensor RIG-1 gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203|PMID:25741868|PMID:28492532 1309460 Rig1 RNA sensor RIG-1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309460 Rig1 RNA sensor RIG-1 gene DOID:9870 galactosemia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1605926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:7240710 20130221 OMIM 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome PMID:17120046|PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:22549410|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29610177 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISS RGD:1319814 D RGD:13592920 20210617 MouseDO 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:5419 schizophrenia ISO RGD:1605926 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:630 genetic disease ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 1309461 Trappc9 trafficking protein particle complex subunit 9 gene DOID:9006534 Nervous System Malformations ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:25741868|PMID:28492532 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25741868 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48 PMID:22499348|PMID:23499752|PMID:24461907|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:32577402 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:7240710 20140903 OMIM 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:7240710 20190315 OMIM 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:10907 microcephaly ISO RGD:1604246 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:2717 Bloom syndrome ISO RGD:1604246 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:3652 Leigh disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:630 genetic disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25044680|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:9007661 Dwarfism ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 1309462 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:9256 colorectal cancer ISO RGD:1604246 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319816 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:1599002|PMID:11326280 20070111 RGD DNA:missense mutations:cds:p.R147C, p.T308R (human) 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:7240710 20130221 OMIM 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:11213799|PMID:11326279|PMID:11326280|PMID:12116250|PMID:1279426|PMID:16455955|PMID:17576681|PMID:23806237|PMID:24033266|PMID:24403049|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29030401|PMID:32313197|PMID:33098347|PMID:33413482|PMID:9536098 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:10283 prostate cancer ISO RGD:1319816 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:1059 intellectual disability ISO RGD:1319816 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319816 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:630 genetic disease ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309463 Slc35c1 solute carrier family 35 member C1 gene DOID:905 Zellweger syndrome ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1309465 Exo1 exonuclease 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1309465 Exo1 exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1319820 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309465 Exo1 exonuclease 1 gene DOID:0111261 fumarase deficiency ISO RGD:1319820 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 1309465 Exo1 exonuclease 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309465 Exo1 exonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319820 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1309465 Exo1 exonuclease 1 gene DOID:630 genetic disease ISO RGD:1319820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309465 Exo1 exonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319820 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309465 Exo1 exonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319820 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309465 Exo1 exonuclease 1 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1319820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 1309465 Exo1 exonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 1309465 Exo1 exonuclease 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 1309465 Exo1 exonuclease 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319820 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309466 Lrrc49 leucine rich repeat containing 49 gene DOID:2717 Bloom syndrome ISO RGD:1606554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309466 Lrrc49 leucine rich repeat containing 49 gene DOID:630 genetic disease ISO RGD:1606554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309466 Lrrc49 leucine rich repeat containing 49 gene DOID:9256 colorectal cancer ISO RGD:1606554 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis ameliorates IDA D RGD:127229902|PMID:16960786 20210610 RGD associated with bacterial pneumonia 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis exacerbates ISO RGD:1319824 D RGD:126928125|PMID:17230441 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0040085 bacterial sepsis treatment ISO RGD:1319823 D RGD:126925982|PMID:21507332 20210525 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0050211 swine influenza severity ISO RGD:1319824 D RGD:126925972|PMID:24453980 20210524 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0050697 chorioamnionitis ISO RGD:1319823 D RGD:127229904|PMID:19591072 20210602 RGD associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:0060180 colitis severity ISO RGD:1319824 D RGD:126925972|PMID:24453980 20210524 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:1002 endometritis ameliorates ISO RGD:1319824 D RGD:126928127|PMID:31365951 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:12365 malaria severity ISO RGD:1319823 D RGD:126848795|PMID:27671831 20210503 RGD DNA:SNP: :rs2234237A>T (human) 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:13252 mesenteric vascular occlusion ameliorates IDA D RGD:127284848|PMID:18091551 20210610 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:13272 Klebsiella pneumonia disease_progression ISO RGD:1319824 D RGD:126925976|PMID:24396044 20210524 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:14115 toxic shock syndrome ISO RGD:1319823 D RGD:126848796|PMID:24465168 20210503 RGD mRNA:decreased expression:polymorphonuclear leukocyte 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:1596 depressive disorder treatment IEP D RGD:127284856|PMID:32009956 20210611 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:1883 hepatitis C ISO RGD:1319823 D RGD:126925974|PMID:27328755 20210524 RGD protein:increased expression:plasma 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:1884 viral hepatitis disease_progression ISO RGD:1319824 D RGD:126925974|PMID:27328755 20210524 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:2043 hepatitis B ISO RGD:1319823 D RGD:126925974|PMID:27328755 20210524 RGD protein:increased expression:plasma 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:2913 acute pancreatitis ameliorates IDA D RGD:127284839|PMID:19787284 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:2913 acute pancreatitis severity ISO RGD:1319824 D RGD:11522077|PMID:26250893 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1319823 D RGD:126925977|PMID:29844416 20210524 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:3525 middle cerebral artery infarction ameliorates IDA D RGD:127284860|PMID:32736673 20210611 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:3798 pleural empyema treatment IDA D RGD:127284851|PMID:20819512 20210610 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:4033 bacterial gastritis ISO RGD:1319823 D RGD:126928123|PMID:18321350 20210526 RGD mRNA,protein:increased expression:gastric epithelium 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:409 liver disease ISO RGD:1319823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis ISO RGD:1319824 D RGD:126928120|PMID:18008257 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis severity ISO RGD:1319823 D RGD:126928120|PMID:18008257 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:5052 melioidosis treatment ISO RGD:1319824 D RGD:126928120|PMID:18008257 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319823 D RGD:126925971|PMID:31260499 20210524 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction ameliorates IMP D RGD:127284842|PMID:25840803 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1319824 D RGD:127284842|PMID:25840803 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:5844 myocardial infarction disease_progression ISO RGD:1319823 D RGD:127284842|PMID:25840803 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:6000 congestive heart failure treatment IEP D RGD:127229929|PMID:33495812 20210603 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:630 genetic disease ISO RGD:1319823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:7148 rheumatoid arthritis treatment IEP D RGD:127229930|PMID:27049384 20210603 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:824 periodontitis IEP D RGD:127284858|PMID:29972971 20210611 RGD mRNA,protein:increased expression:periodontium 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia ameliorates IDA D RGD:127229902|PMID:16960786 20210610 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1319823 D RGD:126848796|PMID:24465168 20210503 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1319823 D RGD:126925987|PMID:22996209 20210525 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1319823 D RGD:127284864|PMID:33727099 20210611 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:127284863|PMID:30910643 20210611 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9001708 Hemorrhagic Shock ameliorates IDA D RGD:127284838|PMID:19333144 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1319824 D RGD:126928121|PMID:24752755 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1319824 D RGD:127229903|PMID:19596984 20210602 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1319823 D RGD:127229931|PMID:30478987 20210603 RGD protein:increased expression:kidney interstitium 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:127229931|PMID:30478987 20210603 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:127284861|PMID:29331667 20210611 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002224 Rotator Cuff Injuries IEP D RGD:127284862|PMID:29891998 20210611 RGD protein:increased expression:tendon: 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002668 Liver Abscess severity ISO RGD:1319824 D RGD:126925976|PMID:24396044 20210524 RGD associated with Klebsiella pneumonia 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1319824 D RGD:126925988|PMID:21332515 20210525 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis ISO RGD:1319823 D RGD:11526921|PMID:26963514 20210525 RGD mRNA:increased expression:cornea 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis ISO RGD:1319824 D RGD:11526921|PMID:26963514 20210525 RGD mRNA:increased expression:cornea 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004055 Fungal Keratitis treatment ISO RGD:1319824 D RGD:11526921|PMID:26963514 20210525 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis ISO RGD:1319823 D RGD:126925987|PMID:22996209 20210525 RGD mRNA:decreased expression:polymorph nuclear cell: 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1319823 D RGD:126925981|PMID:22809118 20210525 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004484 Sepsis treatment IEP D RGD:127284847|PMID:22147417 20210610 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004610 Acute Lung Injury ameliorates IDA D RGD:127284840|PMID:26832696 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9004610 Acute Lung Injury exacerbates IMP D RGD:127284840|PMID:26832696 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9005930 Endotoxemia ISO RGD:1319823 D RGD:126928122|PMID:15585833 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1319824 D RGD:126925982|PMID:21507332 20210525 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:127284841|PMID:28260057 20210609 RGD mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9006647 Experimental Autoimmune Neuritis ameliorates IDA D RGD:127284841|PMID:28260057 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9007755 Intestinal Reperfusion Injury ameliorates IDA D RGD:127284848|PMID:18091551 20210610 RGD associated with mesenteric vascular occlusion; 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9008067 Toxemia ameliorates ISO RGD:1319824 D RGD:126928125|PMID:17230441 20210609 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:905 Zellweger syndrome ISO RGD:1319823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9065 leishmaniasis severity ISO RGD:1319824 D RGD:126925972|PMID:24453980 20210524 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9120 amyloidosis ISO RGD:1319823 D RGD:127229901|PMID:31474164 20210602 RGD associated with familial Mediterranean fever;protein:increased expression:serum: 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9415 allergic asthma ISO RGD:1319824 D RGD:126928124|PMID:21592044 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9415 allergic asthma exacerbates ISO RGD:1319824 D RGD:126928124|PMID:21592044 20210526 RGD 1309467 Trem1 triggering receptor expressed on myeloid cells 1 gene DOID:9470 bacterial meningitis disease_progression ISO RGD:1319823 D RGD:126928126|PMID:16786330 20210526 RGD 1309468 Top3b DNA topoisomerase III beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1309468 Top3b DNA topoisomerase III beta gene DOID:11198 DiGeorge syndrome ISO RGD:1319825 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1309468 Top3b DNA topoisomerase III beta gene DOID:12849 autistic disorder ISO RGD:1319825 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309468 Top3b DNA topoisomerase III beta gene DOID:5419 schizophrenia ISO RGD:1319825 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309468 Top3b DNA topoisomerase III beta gene DOID:630 genetic disease ISO RGD:1319825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309470 Sesn3 sestrin 3 gene DOID:1059 intellectual disability ISO RGD:1319828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309470 Sesn3 sestrin 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1319828 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1309470 Sesn3 sestrin 3 gene DOID:630 genetic disease ISO RGD:1319828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309470 Sesn3 sestrin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1309471 Ubxn1 UBX domain protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 1309471 Ubxn1 UBX domain protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309471 Ubxn1 UBX domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1606294 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309471 Ubxn1 UBX domain protein 1 gene DOID:630 genetic disease ISO RGD:1606294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309471 Ubxn1 UBX domain protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606294 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309471 Ubxn1 UBX domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606294 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:7240710 20130221 OMIM 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11804211|PMID:11807405|PMID:17129779|PMID:17446347|PMID:18559978|PMID:19176287|PMID:19740703|PMID:20301716|PMID:20686069|PMID:20795774|PMID:21333572|PMID:21489556|PMID:22345511|PMID:22843796|PMID:25741868|PMID:27664775|PMID:28492532|PMID:3987728 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:1059 intellectual disability ISO RGD:1606750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:12450 pancytopenia ISO RGD:1606750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:2355 anemia ISO RGD:1606750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:630 genetic disease ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:784 chronic kidney disease IEP D RGD:7327184|PMID:21149507 20130913 RGD mRNA:decreased expression:liver, heart, jejunum (rat) 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:1606750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17129779|PMID:17446347 1309472 Slc46a1 solute carrier family 46 member 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1606750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19204075 1309474 Glb1l galactosidase, beta 1-like gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1319832 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1309474 Glb1l galactosidase, beta 1-like gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1309474 Glb1l galactosidase, beta 1-like gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1309474 Glb1l galactosidase, beta 1-like gene DOID:1148 polydactyly ISO RGD:1319832 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1309474 Glb1l galactosidase, beta 1-like gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1309474 Glb1l galactosidase, beta 1-like gene DOID:630 genetic disease ISO RGD:1319832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309474 Glb1l galactosidase, beta 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319832 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309475 Stard4 StAR-related lipid transfer domain containing 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309475 Stard4 StAR-related lipid transfer domain containing 4 gene DOID:630 genetic disease ISO RGD:1319833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309475 Stard4 StAR-related lipid transfer domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319833 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309475 Stard4 StAR-related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1309475 Stard4 StAR-related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309477 Polr2b RNA polymerase II subunit B gene DOID:630 genetic disease ISO RGD:1319837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309477 Polr2b RNA polymerase II subunit B gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1319837 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1309478 Bnipl BCL2 interacting protein like gene DOID:0111940 immunodeficiency 42 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309478 Bnipl BCL2 interacting protein like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309478 Bnipl BCL2 interacting protein like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309478 Bnipl BCL2 interacting protein like gene DOID:1540 parathyroid carcinoma ISO RGD:1319839 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309478 Bnipl BCL2 interacting protein like gene DOID:5812 MHC class II deficiency ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309478 Bnipl BCL2 interacting protein like gene DOID:630 genetic disease ISO RGD:1319839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309478 Bnipl BCL2 interacting protein like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319839 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309480 Ints6 integrator complex subunit 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1309480 Ints6 integrator complex subunit 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319842 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309480 Ints6 integrator complex subunit 6 gene DOID:1059 intellectual disability ISO RGD:1319842 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309480 Ints6 integrator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1319842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309480 Ints6 integrator complex subunit 6 gene DOID:893 Wilson disease ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 1309482 Fra10ac1 FRA10A associated CGG repeat 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1319845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 1309482 Fra10ac1 FRA10A associated CGG repeat 1 gene DOID:630 genetic disease ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309482 Fra10ac1 FRA10A associated CGG repeat 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:7240710 20221123 OMIM 1309482 Fra10ac1 FRA10A associated CGG repeat 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities PMID:25741868|PMID:34694367|PMID:35821753|PMID:35871492 1309483 Snx31 sorting nexin 31 gene DOID:0111590 Cohen syndrome ISO RGD:1603261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1309483 Snx31 sorting nexin 31 gene DOID:630 genetic disease ISO RGD:1603261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309484 Ppil2 peptidylprolyl isomerase like 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1309484 Ppil2 peptidylprolyl isomerase like 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1319848 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1309484 Ppil2 peptidylprolyl isomerase like 2 gene DOID:630 genetic disease ISO RGD:1319848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309485 Plaat1 phospholipase A and acyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1319850 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309485 Plaat1 phospholipase A and acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309487 Wdr70 WD repeat domain 70 gene DOID:630 genetic disease ISO RGD:1605675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309487 Wdr70 WD repeat domain 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605675 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309487 Wdr70 WD repeat domain 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1605675 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1309488 Sox4 SRY-box transcription factor 4 gene DOID:0060058 lymphoma ISO RGD:1319855 D RGD:1581305|PMID:15231650 19990101 RGD 1309488 Sox4 SRY-box transcription factor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309488 Sox4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:7240710 20190731 OMIM 1309488 Sox4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 10 PMID:25741868|PMID:30661772|PMID:35232796 1309488 Sox4 SRY-box transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:1319854 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:30661772 1309488 Sox4 SRY-box transcription factor 4 gene DOID:11054 urinary bladder cancer ISO RGD:1319854 D RGD:1581304|PMID:16585165 19990101 RGD 1309488 Sox4 SRY-box transcription factor 4 gene DOID:114 heart disease ISO RGD:1319855 D RGD:1581306|PMID:9815146 19990101 RGD 1309488 Sox4 SRY-box transcription factor 4 gene DOID:1923 disorder of sexual development ISO RGD:1319854 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1309488 Sox4 SRY-box transcription factor 4 gene DOID:3459 breast carcinoma ISO RGD:1319854 D RGD:153297792|PMID:29882245 20220726 RGD protein:increased expression:breast 1309488 Sox4 SRY-box transcription factor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319854 D RGD:153297793|PMID:16052521 20220726 RGD 1309488 Sox4 SRY-box transcription factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1319854 D RGD:153297792|PMID:29882245 20220726 RGD protein:increased expression:lung 1309488 Sox4 SRY-box transcription factor 4 gene DOID:6000 congestive heart failure ISO RGD:1319854 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1309488 Sox4 SRY-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309488 Sox4 SRY-box transcription factor 4 gene DOID:9001041 Asphyxia IDA D RGD:1581119|PMID:12011571 19990101 RGD 1309488 Sox4 SRY-box transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309488 Sox4 SRY-box transcription factor 4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1319854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 1309488 Sox4 SRY-box transcription factor 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309488 Sox4 SRY-box transcription factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319854 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1309488 Sox4 SRY-box transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319854 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309490 Klhl20 kelch-like family member 20 gene DOID:10283 prostate cancer ISO RGD:1343100 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309490 Klhl20 kelch-like family member 20 gene DOID:1059 intellectual disability ISO RGD:1343100 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309490 Klhl20 kelch-like family member 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1343100 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309490 Klhl20 kelch-like family member 20 gene DOID:3755 antithrombin III deficiency ISO RGD:1343100 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1309490 Klhl20 kelch-like family member 20 gene DOID:630 genetic disease ISO RGD:1343100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309490 Klhl20 kelch-like family member 20 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1309490 Klhl20 kelch-like family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343100 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309490 Klhl20 kelch-like family member 20 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1309490 Klhl20 kelch-like family member 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343100 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309492 Cipc CLOCK-interacting pacemaker gene DOID:1059 intellectual disability ISO RGD:1319859 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309492 Cipc CLOCK-interacting pacemaker gene DOID:630 genetic disease ISO RGD:1319859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309493 Rps6kl1 ribosomal protein S6 kinase-like 1 gene DOID:1059 intellectual disability ISO RGD:1319861 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309493 Rps6kl1 ribosomal protein S6 kinase-like 1 gene DOID:630 genetic disease ISO RGD:1319861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309494 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1349569 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1309494 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:630 genetic disease ISO RGD:1349569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309494 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1349569 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1309494 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:9007096 Stroke ISO RGD:1349569 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1309495 Srsf9 serine and arginine rich splicing factor 9 gene DOID:11054 urinary bladder cancer ISO RGD:1319864 D RGD:11040443|PMID:22178073 20160308 RGD mRNA:increased expression:urinary bladder epithelium (human) 1309495 Srsf9 serine and arginine rich splicing factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1309495 Srsf9 serine and arginine rich splicing factor 9 gene DOID:630 genetic disease ISO RGD:1319864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309495 Srsf9 serine and arginine rich splicing factor 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1319864 D RGD:11040805|PMID:20616573 20160315 RGD 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1603209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0050777 Joubert syndrome ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603209 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:10591 pre-eclampsia ISO RGD:1603209 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:12849 autistic disorder ISO RGD:1603209 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:630 genetic disease ISO RGD:1603209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309496 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:9538 multiple myeloma ISO RGD:1603209 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 1309497 Efnb2 ephrin B2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 1309497 Efnb2 ephrin B2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1319867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1309497 Efnb2 ephrin B2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1319867 D RGD:153300950|PMID:26494468 20220809 RGD human cells in mouse model 1309497 Efnb2 ephrin B2 gene DOID:10534 stomach cancer ISO RGD:1319867 D RGD:153323289|PMID:12136247 20220811 RGD mRNA:increased expression:stomach (human) 1309497 Efnb2 ephrin B2 gene DOID:1520 colon carcinoma ameliorates ISO RGD:1319867 D RGD:153305907|PMID:15083195 20220809 RGD human cells in mouse model 1309497 Efnb2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1319867 D RGD:153300948|PMID:29190834 20220808 RGD human cells in mouse model 1309497 Efnb2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319867 D RGD:153300949|PMID:31885720 20220808 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) 1309497 Efnb2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1319867 D RGD:153300947|PMID:17611172 20220808 RGD mRNA:increased expression:esophagus squamous epithelium (human) 1309497 Efnb2 ephrin B2 gene DOID:630 genetic disease ISO RGD:1319867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309497 Efnb2 ephrin B2 gene DOID:799 varicose veins ISO RGD:1319867 D RGD:11529441|PMID:26808710 20221107 RGD mRNA,protein:increased expression:vein: 1309497 Efnb2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:127285659|PMID:33794069 20210625 RGD mRNA,protein:increased expression:fibroblast, astrocyte 1309497 Efnb2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:127285804|PMID:12944508 20210630 RGD protein:increased phosporylation:spinal cord 1309497 Efnb2 ephrin B2 gene DOID:9000096 Lung Agenesis ISO RGD:1319867 D RGD:11554173 20191112 CTD CTD Direct Evidence: therapeutic PMID:30106123 1309497 Efnb2 ephrin B2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319867 D RGD:153305948|PMID:25012246 20220810 RGD associated with cholangiocarcinoma;protein:increased expression:biliary ductule (human) 1309497 Efnb2 ephrin B2 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1319867 D RGD:155646133|PMID:23870033 20221108 RGD mRNA:decreased expression:liver 1309497 Efnb2 ephrin B2 gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:155663663|PMID:26670826 20221201 RGD mRNA:increased expression:retina 1309497 Efnb2 ephrin B2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1319867 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1309497 Efnb2 ephrin B2 gene DOID:9004009 Reperfusion Injury ISO RGD:1319867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 1309497 Efnb2 ephrin B2 gene DOID:9005172 Lung Neoplasms ISO RGD:1319867 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1309497 Efnb2 ephrin B2 gene DOID:9007188 Liver Neoplasms ISO RGD:1319867 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1309497 Efnb2 ephrin B2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1319867 D RGD:153305949|PMID:23631129 20220810 RGD protein:increased expression:nasopharynx (human) 1309497 Efnb2 ephrin B2 gene DOID:9778 irritable bowel syndrome IEP D RGD:127229906|PMID:31601124 20210602 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:0080942 anauxetic dysplasia ISO RGD:1319869 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1319869 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:10487 Hirschsprung's disease ISO RGD:1319869 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:1059 intellectual disability ISO RGD:1319869 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:11832 visual epilepsy ISO RGD:1319869 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:630 genetic disease ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1319869 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25741868 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319869 D RGD:7240710 20140911 OMIM 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:16199547|PMID:17576681|PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28337824|PMID:28492532|PMID:28545593|PMID:30109123|PMID:9536098 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1319869 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309498 Pigo phosphatidylinositol glycan anchor biosynthesis, class O gene DOID:9870 galactosemia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1309499 Dok1 docking protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319871 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1309499 Dok1 docking protein 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1319872 D RGD:152177521|PMID:20139980 20220517 RGD 1309499 Dok1 docking protein 1 gene DOID:543 dystonia ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309499 Dok1 docking protein 1 gene DOID:630 genetic disease ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309499 Dok1 docking protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309499 Dok1 docking protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319871 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21856257 1309499 Dok1 docking protein 1 gene DOID:9004584 Myopia 28 ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532 1309499 Dok1 docking protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1319871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0050777 Joubert syndrome ISO RGD:1603046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:27158779|PMID:28492532 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603046 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:7240710 20170301 OMIM 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:32860008|PMID:9536098 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:7240710 20171011 OMIM 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:1603046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25640679|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:29588463|PMID:33046855|PMID:9536098 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:4501 orofaciodigital syndrome ISO RGD:1603046 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 1309501 Wdpcp WD repeat containing planar cell polarity effector gene DOID:630 genetic disease ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20671153|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28492532|PMID:33046855 1309502 Crebl2 cAMP responsive element binding protein-like 2 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1319876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1309502 Crebl2 cAMP responsive element binding protein-like 2 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1319876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1309502 Crebl2 cAMP responsive element binding protein-like 2 gene DOID:630 genetic disease ISO RGD:1319876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309503 Itm2c integral membrane protein 2C gene DOID:0060476 Perlman syndrome ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1309503 Itm2c integral membrane protein 2C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1309503 Itm2c integral membrane protein 2C gene DOID:630 genetic disease ISO RGD:1319877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309504 Actbl2 actin, beta-like 2 gene DOID:630 genetic disease ISO RGD:1603843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309504 Actbl2 actin, beta-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603843 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28659334 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:0080395 orofacial cleft 1 ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:0080600 COVID-19 ISO RGD:1319880 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691|PMID:30320580 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:6484658|PMID:22159054 20120627 RGD DNA:SNP: :rs6859 (human) 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:11054 urinary bladder cancer ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:14330 Parkinson's disease ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:1936 atherosclerosis ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28062492 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:1969 cerebral palsy ISO RGD:1319880 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:16738668 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis no_association ISO RGD:1319880 D RGD:6767565|PMID:17376543 20120711 RGD DNA:SNPs: :multiple 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis severity ISO RGD:1319880 D RGD:6767558|PMID:16738668 20120711 RGD DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:418 systemic scleroderma ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1319880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:8566 herpes simplex ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:10729168|PMID:11602758|PMID:30319691 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002321 Teratozoospermia ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:23758976 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9003370 Dyslipidemias ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:23758976 1309505 Nectin2 nectin cell adhesion molecule 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319880 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:29855615 1309507 Rab30 RAB30, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1319882 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309507 Rab30 RAB30, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309507 Rab30 RAB30, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309508 Reep6 receptor accessory protein 6 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1309508 Reep6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:7240710 20190315 OMIM 1309508 Reep6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 77 PMID:25741868|PMID:27889058|PMID:28369466|PMID:28492532|PMID:29120066 1309508 Reep6 receptor accessory protein 6 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1309508 Reep6 receptor accessory protein 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1319884 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:29120066 1309508 Reep6 receptor accessory protein 6 gene DOID:5339 cyclic hematopoiesis ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1309508 Reep6 receptor accessory protein 6 gene DOID:630 genetic disease ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309508 Reep6 receptor accessory protein 6 gene DOID:8501 fundus dystrophy ISO RGD:1319884 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1309508 Reep6 receptor accessory protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319884 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309509 Rarres1 retinoic acid receptor responder 1 gene DOID:0050873 follicular lymphoma ISS RGD:1551283 D RGD:13592920 20220721 MouseDO OMIM:151430 1309509 Rarres1 retinoic acid receptor responder 1 gene DOID:630 genetic disease ISO RGD:1319886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309509 Rarres1 retinoic acid receptor responder 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1319886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 1309509 Rarres1 retinoic acid receptor responder 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309510 Gprc5b G protein-coupled receptor, class C, group 5, member B gene DOID:630 genetic disease ISO RGD:1319887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309511 Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:630 genetic disease ISO RGD:1319889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309511 Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1319889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:0060163 body dysmorphic disorder ISO RGD:1319891 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:0060224 atrial fibrillation ISO RGD:1319891 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1319891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:1059 intellectual disability ISO RGD:1319891 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:10907 microcephaly ISO RGD:1319891 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:12849 autistic disorder ISO RGD:1319891 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:14227 azoospermia ISS RGD:1551284 D RGD:13592920 20180518 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:1826 epilepsy ISO RGD:1319891 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:1909 melanoma ISO RGD:1319891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:630 genetic disease ISO RGD:1319891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309512 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:9000495 Tremor ISO RGD:1319891 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:0050795 cone dystrophy ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532|PMID:31058429 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:7240710 20141015 OMIM 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 4 PMID:12077706|PMID:12205108|PMID:15557429|PMID:18643908|PMID:21107338|PMID:25741868|PMID:27208204|PMID:28492532|PMID:31058429|PMID:31144483 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:12849 autistic disorder ISO RGD:1319893 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12077706 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:1599034|PMID:12077706 20070112 RGD 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:13911 achromatopsia ISO RGD:1319893 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:25741868 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:13911 achromatopsia ISS RGD:1319894 D RGD:13592920 20211125 MouseDO 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:630 genetic disease ISO RGD:1319893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:8501 fundus dystrophy ISO RGD:1319893 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1309514 Gnat2 G protein subunit alpha transducin 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1319893 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 1309515 Rad17 RAD17 checkpoint clamp loader component gene DOID:630 genetic disease ISO RGD:1319895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309515 Rad17 RAD17 checkpoint clamp loader component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319895 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309516 Nectin3 nectin cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1319897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309516 Nectin3 nectin cell adhesion molecule 3 gene DOID:83 cataract ISO RGD:1319897 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Congenital cataract 1309516 Nectin3 nectin cell adhesion molecule 3 gene DOID:9002321 Teratozoospermia ISO RGD:1319897 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 1309517 Rpl22l1 ribosomal protein L22 like 1 gene DOID:1062 Fanconi syndrome ISO RGD:1602286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1309517 Rpl22l1 ribosomal protein L22 like 1 gene DOID:630 genetic disease ISO RGD:1602286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309518 Slc35d2 solute carrier family 35 member D2 gene DOID:1059 intellectual disability ISO RGD:1319900 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309518 Slc35d2 solute carrier family 35 member D2 gene DOID:630 genetic disease ISO RGD:1319900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309519 Zfand1 zinc finger AN1-type containing 1 gene DOID:630 genetic disease ISO RGD:1605942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1319904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1319904 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:1059 intellectual disability ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:25741868 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1319904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:8445 intestinal volvulus ISO RGD:1319904 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1319904 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319904 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309521 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319904 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1309522 Bora bora, aurora kinase A activator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605625 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309522 Bora bora, aurora kinase A activator gene DOID:630 genetic disease ISO RGD:1605625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309523 Cdk18 cyclin-dependent kinase 18 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1309523 Cdk18 cyclin-dependent kinase 18 gene DOID:12849 autistic disorder ISO RGD:1319906 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309523 Cdk18 cyclin-dependent kinase 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1319906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309523 Cdk18 cyclin-dependent kinase 18 gene DOID:630 genetic disease ISO RGD:1319906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309523 Cdk18 cyclin-dependent kinase 18 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1309523 Cdk18 cyclin-dependent kinase 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319906 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309524 Med26 mediator complex subunit 26 gene DOID:630 genetic disease ISO RGD:1352604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:630 genetic disease ISO RGD:1349310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840|PMID:28817240 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:243048420|PMID:20802478 20230329 RGD DNA:missense mutations:CDS:multiple (human) 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:7240710 20130221 OMIM 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:1724113|PMID:17351347|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1349310 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20802478 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1349310 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:28492532|PMID:28688840 1309526 Pigv phosphatidylinositol glycan anchor biosynthesis, class V gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:28492532 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:155663377|PMID:29700987 20221114 RGD DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:155663379|PMID:28464518 20221115 RGD DNA:deletions:multiple: (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:1319911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1319911 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319912 D RGD:155663355|PMID:34990405 20221111 RGD 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:1682 congenital heart disease ISO RGD:1319911 D RGD:155663359|PMID:36229919 20221111 RGD DNA:mutations:cds:multiple (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:1319911 D RGD:155663376|PMID:31485280 20221114 RGD DNA:SNP:CDS:rs237028 (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319912 D RGD:155663371|PMID:34331613 20221114 RGD mRNA, protein:increased expression:lung (mouse) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1319912 D RGD:155663374|PMID:32506869 20221114 RGD 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:155663369|PMID:34551195 20221114 RGD mRNA:increased expression:lung (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:630 genetic disease ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:28492532 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:6364 migraine ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319911 D RGD:155663483|PMID:22660635 20221117 RGD mRNA, protein:increased expression:synovial (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:9004994 Embryo Loss ISO RGD:1319912 D RGD:155663421|PMID:22972987 20221116 RGD 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:7240710 20140911 OMIM 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 PMID:20493459|PMID:25326635|PMID:25741868|PMID:27452334|PMID:28386937|PMID:28492532|PMID:31250519|PMID:31959127|PMID:32860008 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1319911 D RGD:155663487|PMID:20493459 20221117 RGD DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319911 D RGD:155663483|PMID:22660635 20221117 RGD mRNA, protein:increased expression:kidney (human) 1309527 Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 gene DOID:936 brain disease ISO RGD:1319911 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25326635|PMID:25741868 1309528 Ppm1h protein phosphatase, Mg2+/Mn2+ dependent, 1H gene DOID:630 genetic disease ISO RGD:1319913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309529 Cisd1 CDGSH iron sulfur domain 1 gene DOID:630 genetic disease ISO RGD:1319915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309530 Krt28 keratin 28 gene DOID:630 genetic disease ISO RGD:1319917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309531 Maff MAF bZIP transcription factor F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1309531 Maff MAF bZIP transcription factor F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1319919 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1309531 Maff MAF bZIP transcription factor F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1309531 Maff MAF bZIP transcription factor F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1309531 Maff MAF bZIP transcription factor F gene DOID:630 genetic disease ISO RGD:1319919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309531 Maff MAF bZIP transcription factor F gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309532 Mdfic MyoD family inhibitor domain containing gene DOID:0081030 central conducting lymphatic anomaly ISS RGD:1553252 D RGD:13592920 20220804 MouseDO OMIM:617300 1309532 Mdfic MyoD family inhibitor domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607030 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309532 Mdfic MyoD family inhibitor domain containing gene DOID:630 genetic disease ISO RGD:1607030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309532 Mdfic MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:7240710 20220831 OMIM 1309532 Mdfic MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 12 PMID:35235341 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:0080600 COVID-19 ISO RGD:1319922 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:1826 epilepsy ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:630 genetic disease ISO RGD:1319922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319922 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1309533 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1319922 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1309534 C8h11orf54 similar to human chromosome 11 open reading frame 54 gene DOID:1059 intellectual disability ISO RGD:1603055 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309534 C8h11orf54 similar to human chromosome 11 open reading frame 54 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309535 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:0050700 cardiomyopathy ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28166811|PMID:28492532 1309535 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1344487 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1309535 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1344487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309535 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344487 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1309535 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1344487 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1309536 Slc10a4 solute carrier family 10, member 4 gene DOID:630 genetic disease ISO RGD:1319926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309537 Myl12a myosin light chain 12A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1606574 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1309537 Myl12a myosin light chain 12A gene DOID:0110880 holoprosencephaly 4 ISO RGD:1606574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 1309537 Myl12a myosin light chain 12A gene DOID:1059 intellectual disability ISO RGD:1606574 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309537 Myl12a myosin light chain 12A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1309537 Myl12a myosin light chain 12A gene DOID:630 genetic disease ISO RGD:1606574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309537 Myl12a myosin light chain 12A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606574 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309537 Myl12a myosin light chain 12A gene DOID:9005523 Majeed Syndrome ISO RGD:1606574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 1309538 Kat14 lysine acetyltransferase 14 gene DOID:630 genetic disease ISO RGD:1319928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309538 Kat14 lysine acetyltransferase 14 gene DOID:9006233 Mitochondrial Complex IV Deficiency, Nuclear Type 19 ISO RGD:1319928 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 1309538 Kat14 lysine acetyltransferase 14 gene DOID:9008086 Developmental Disabilities ISO RGD:1319928 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 1309539 Gba3 glucosylceramidase beta 3 gene DOID:303 substance-related disorder ISO RGD:1319930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1309539 Gba3 glucosylceramidase beta 3 gene DOID:630 genetic disease ISO RGD:1319930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309539 Gba3 glucosylceramidase beta 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1319930 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309540 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1309540 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1309540 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604290 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309540 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319932 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISS RGD:1615764 D RGD:13592920 20220602 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319932 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1319932 D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:23877401|PMID:25558065 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:7240710 20190315 OMIM 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:17576681|PMID:22219654|PMID:23877401|PMID:25558065|PMID:25741868|PMID:28492532|PMID:9536098 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1319932 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309541 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319932 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1309543 Ppp1r18 protein phosphatase 1, regulatory subunit 18 gene DOID:11372 megacolon ISO RGD:1319936 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1309543 Ppp1r18 protein phosphatase 1, regulatory subunit 18 gene DOID:630 genetic disease ISO RGD:1319936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309543 Ppp1r18 protein phosphatase 1, regulatory subunit 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309544 Zmynd8 zinc finger, MYND-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1319938 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309544 Zmynd8 zinc finger, MYND-type containing 8 gene DOID:2234 focal epilepsy ISO RGD:1319938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309544 Zmynd8 zinc finger, MYND-type containing 8 gene DOID:630 genetic disease ISO RGD:1319938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309545 Zmym4 zinc finger MYM-type containing 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319940 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309545 Zmym4 zinc finger MYM-type containing 4 gene DOID:630 genetic disease ISO RGD:1319940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319942 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111112 nephronophthisis 1 ISO RGD:1319942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:7240710 20140903 OMIM 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 PMID:18835491|PMID:23022098|PMID:23022099|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:31981491|PMID:32576985 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:12712 nephronophthisis ISO RGD:1319942 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:630 genetic disease ISO RGD:1319942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25058219|PMID:25741868|PMID:27412952|PMID:28492532 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:23022098|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:9006534 Nervous System Malformations ISO RGD:1319942 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18835491|PMID:23022099|PMID:25741868 1309546 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1319942 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1309547 Dctn3 dynactin subunit 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319944 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1319944 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:630 genetic disease ISO RGD:1319944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309547 Dctn3 dynactin subunit 3 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1319944 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309547 Dctn3 dynactin subunit 3 gene DOID:9870 galactosemia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1309548 Cdyl2 chromodomain Y-like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1319946 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 1309548 Cdyl2 chromodomain Y-like 2 gene DOID:630 genetic disease ISO RGD:1319946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309549 Ttyh3 tweety family member 3 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 1309549 Ttyh3 tweety family member 3 gene DOID:630 genetic disease ISO RGD:1319948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309550 Setd3 SET domain containing 3, actin histidine methyltransferase gene DOID:630 genetic disease ISO RGD:1319950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309551 Nol8 nucleolar protein 8 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1319952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1309551 Nol8 nucleolar protein 8 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 1309551 Nol8 nucleolar protein 8 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1309551 Nol8 nucleolar protein 8 gene DOID:630 genetic disease ISO RGD:1319952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309551 Nol8 nucleolar protein 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319952 D RGD:11554173 20190115 CTD CTD Direct Evidence: marker/mechanism PMID:30125550 1309552 Ankrd54 ankyrin repeat domain 54 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1309552 Ankrd54 ankyrin repeat domain 54 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1309552 Ankrd54 ankyrin repeat domain 54 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1309552 Ankrd54 ankyrin repeat domain 54 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1309552 Ankrd54 ankyrin repeat domain 54 gene DOID:630 genetic disease ISO RGD:1605877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309553 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 1309553 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25741868|PMID:28492532 1309553 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:630 genetic disease ISO RGD:1319955 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:0050816 urofacial syndrome ISO RGD:1319957 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:0080690 RASopathy ISO RGD:1319957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1319957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:13938 amenorrhea ISO RGD:1319957 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:630 genetic disease ISO RGD:1319957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:7240710 20140903 OMIM 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urofacial syndrome 2 PMID:23313374|PMID:25741868 1309554 Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319957 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741906 1309556 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:7240710 20140911 OMIM 1309556 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency PMID:23315540|PMID:25326637|PMID:25741868|PMID:25797485|PMID:26001801|PMID:26968897|PMID:28492532|PMID:33726816|PMID:34140213 1309556 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1319960 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 1309556 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 1309556 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:630 genetic disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1309556 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319960 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309557 Rnf41 ring finger protein 41 gene DOID:630 genetic disease ISO RGD:1319962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:7240710 20200826 OMIM 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:26477546|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31614862|PMID:31674007|PMID:32381727|PMID:33631843|PMID:9683594 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319963 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1319963 D RGD:11554173 20200901 CTD CTD Direct Evidence: marker/mechanism 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319963 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319963 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:7240710 20190501 OMIM 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:23664117|PMID:23664118|PMID:24766538|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29620724 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1319963 D RGD:8554872 20210504 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:24033266 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:1319963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:7240710 20221116 OMIM 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al-Gazali syndrome PMID:10319196|PMID:25149931|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319963 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319963 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1309558 B3galt6 Beta-1,3-galactosyltransferase 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:0080054 achondrogenesis type IA ISO RGD:1319965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:0080600 COVID-19 ISO RGD:1319965 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:7240710 20190315 OMIM 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 PMID:25741868|PMID:27693231 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:2187 amelogenesis imperfecta ISO RGD:1319965 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27693231 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:630 genetic disease ISO RGD:1319965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309559 Gpr68 G protein-coupled receptor 68 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309561 Rnf145 ring finger protein 145 gene DOID:630 genetic disease ISO RGD:1602832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309562 Iscu iron-sulfur cluster assembly enzyme gene DOID:10591 pre-eclampsia ISO RGD:1607067 D RGD:155631283|PMID:22840297 20221031 RGD mRNA:decreased expression:chorionic villus (human) 1309562 Iscu iron-sulfur cluster assembly enzyme gene DOID:423 myopathy ISO RGD:1607067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 1309562 Iscu iron-sulfur cluster assembly enzyme gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1607067 D RGD:155260320|PMID:23449350 20220930 RGD mRNA,protein:decreased expression:kidney (human) 1309562 Iscu iron-sulfur cluster assembly enzyme gene DOID:630 genetic disease ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309562 Iscu iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:7240710 20130221 OMIM 1309562 Iscu iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary PMID:18296749|PMID:18304497|PMID:19567699|PMID:19846308|PMID:20206689|PMID:21165651|PMID:22125086|PMID:25741868|PMID:28492532|PMID:30209894 1309565 Pbk PDZ binding kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1309565 Pbk PDZ binding kinase gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1309565 Pbk PDZ binding kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1351038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309565 Pbk PDZ binding kinase gene DOID:630 genetic disease ISO RGD:1351038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309565 Pbk PDZ binding kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1351038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309567 Plppr5 phospholipid phosphatase related 5 gene DOID:630 genetic disease ISO RGD:1604517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309569 Disp2 dispatched RND transporter family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1319977 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309569 Disp2 dispatched RND transporter family member 2 gene DOID:630 genetic disease ISO RGD:1319977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309569 Disp2 dispatched RND transporter family member 2 gene DOID:9256 colorectal cancer ISO RGD:1319977 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0060327 omphalocele ISO RGD:1603682 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0080697 Opitz GBBB syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS PMID:25741868|PMID:30472488 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:7240710 20220608 OMIM 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 PMID:25412741|PMID:25741868|PMID:30472488|PMID:31953237|PMID:3228142|PMID:32954677 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0081073 Teebi hypertelorism syndrome ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome PMID:17506099|PMID:25412741|PMID:25741868|PMID:25741869|PMID:26111080|PMID:28492532|PMID:30472488|PMID:31953237 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:7240710 20141015 OMIM 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oculomaxillofacial dysostosis PMID:21703590|PMID:25741868|PMID:28492532 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:10283 prostate cancer ISO RGD:1603682 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:1059 intellectual disability ISO RGD:1603682 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:11198 DiGeorge syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome PMID:25741868|PMID:28492532 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:1826 epilepsy ISO RGD:1603682 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:5419 schizophrenia ISO RGD:1603682 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:630 genetic disease ISO RGD:1603682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:674 cleft palate ISS RGD:1332016 D RGD:13592920 20220630 MouseDO 1309570 Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1603682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 1309571 G3bp2 G3BP stress granule assembly factor 2 gene DOID:630 genetic disease ISO RGD:1602228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309571 G3bp2 G3BP stress granule assembly factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1309571 G3bp2 G3BP stress granule assembly factor 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1309572 Extl1 exostosin-like glycosyltransferase 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1319981 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1309572 Extl1 exostosin-like glycosyltransferase 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1309572 Extl1 exostosin-like glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309572 Extl1 exostosin-like glycosyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309573 Aurkc aurora kinase C gene DOID:0070183 spermatogenic failure 5 ISO RGD:1343852 D RGD:7240710 20190315 OMIM 1309573 Aurkc aurora kinase C gene DOID:0070183 spermatogenic failure 5 ISO RGD:1343852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder PMID:17435757|PMID:19147683|PMID:21733974|PMID:22888167|PMID:24033266|PMID:25219909|PMID:25741868|PMID:25755131|PMID:26341096|PMID:27106102|PMID:28492532|PMID:31455599 1309573 Aurkc aurora kinase C gene DOID:0111910 spermatogenic failure ISO RGD:1343852 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 1309573 Aurkc aurora kinase C gene DOID:12336 male infertility ISO RGD:1343852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17435757 1309573 Aurkc aurora kinase C gene DOID:630 genetic disease ISO RGD:1343852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309574 Wnt9b Wnt family member 9B gene DOID:0080204 renal hypoplasia ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:34145744 1309574 Wnt9b Wnt family member 9B gene DOID:630 genetic disease ISO RGD:1319983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309574 Wnt9b Wnt family member 9B gene DOID:784 chronic kidney disease ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:34145744 1309574 Wnt9b Wnt family member 9B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532 1309576 Tmem220 transmembrane protein 220 gene DOID:630 genetic disease ISO RGD:1604450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309577 Pi15 peptidase inhibitor 15 gene DOID:630 genetic disease ISO RGD:1319988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309578 Acsm5 acyl-CoA synthetase medium-chain family member 5 gene DOID:630 genetic disease ISO RGD:1603027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309579 Dtnb dystrobrevin, beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1309579 Dtnb dystrobrevin, beta gene DOID:630 genetic disease ISO RGD:1319991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309580 Ddx51 DEAD-box helicase 51 gene DOID:1790 malignant mesothelioma ISO RGD:1319993 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1309580 Ddx51 DEAD-box helicase 51 gene DOID:630 genetic disease ISO RGD:1319993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309580 Ddx51 DEAD-box helicase 51 gene DOID:9256 colorectal cancer ISO RGD:1319993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1309581 Tmprss9 transmembrane serine protease 9 gene DOID:0060041 autism spectrum disorder ISS RGD:1617167 D RGD:13592920 20200402 MouseDO 1309581 Tmprss9 transmembrane serine protease 9 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1309581 Tmprss9 transmembrane serine protease 9 gene DOID:630 genetic disease ISO RGD:1319995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1309581 Tmprss9 transmembrane serine protease 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319995 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309581 Tmprss9 transmembrane serine protease 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319995 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1309582 Zyg11a zyg-11 family member A, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1601783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309583 Tfeb transcription factor EB gene DOID:0050444 infantile Refsum disease ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309583 Tfeb transcription factor EB gene DOID:630 genetic disease ISO RGD:1319997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309583 Tfeb transcription factor EB gene DOID:9002955 Nerve Degeneration ISO RGD:1319997 D RGD:11554173 20220308 CTD CTD Direct Evidence: therapeutic PMID:34562559 1309583 Tfeb transcription factor EB gene DOID:905 Zellweger syndrome ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309584 Irak2 interleukin-1 receptor-associated kinase 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1319999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 1309584 Irak2 interleukin-1 receptor-associated kinase 2 gene DOID:14175 von Hippel-Lindau disease ISO RGD:1319999 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 1309584 Irak2 interleukin-1 receptor-associated kinase 2 gene DOID:630 genetic disease ISO RGD:1319999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309584 Irak2 interleukin-1 receptor-associated kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319999 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309584 Irak2 interleukin-1 receptor-associated kinase 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1309585 Sap30l SAP30-like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309585 Sap30l SAP30-like gene DOID:11612 polycystic ovary syndrome ISO RGD:1606218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309585 Sap30l SAP30-like gene DOID:630 genetic disease ISO RGD:1606218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309585 Sap30l SAP30-like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309587 Tent4b terminal nucleotidyltransferase 4B gene DOID:0111122 nephronophthisis 14 ISO RGD:1320003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1309587 Tent4b terminal nucleotidyltransferase 4B gene DOID:630 genetic disease ISO RGD:1320003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:7240710 20130221 OMIM 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy PMID:15034782|PMID:17668063|PMID:17962451|PMID:18176953|PMID:20505825|PMID:23169578|PMID:23564352|PMID:25741868|PMID:28492532|PMID:3486394|PMID:8190477|PMID:9450854 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:9002860 Cardiac Edema ISO RGD:1603400 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1603400 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 1309588 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603400 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1309589 Sprr3 small proline-rich protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309589 Sprr3 small proline-rich protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309589 Sprr3 small proline-rich protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309589 Sprr3 small proline-rich protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354373 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309589 Sprr3 small proline-rich protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1354373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309589 Sprr3 small proline-rich protein 3 gene DOID:630 genetic disease ISO RGD:1354373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309589 Sprr3 small proline-rich protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354373 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309590 Etv5 ETS variant transcription factor 5 gene DOID:2661 myoepithelioma ISO RGD:1320007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1309590 Etv5 ETS variant transcription factor 5 gene DOID:630 genetic disease ISO RGD:1320007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309590 Etv5 ETS variant transcription factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320007 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 1309590 Etv5 ETS variant transcription factor 5 gene DOID:9008192 Neoplastic Processes ISO RGD:1320007 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 1309591 Apol2 apolipoprotein L, 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1309591 Apol2 apolipoprotein L, 2 gene DOID:5062 phencyclidine abuse ISO RGD:1320008 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 1309591 Apol2 apolipoprotein L, 2 gene DOID:5419 schizophrenia ISO RGD:1320008 D RGD:7240710 20210324 OMIM 1309591 Apol2 apolipoprotein L, 2 gene DOID:630 genetic disease ISO RGD:1320008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309591 Apol2 apolipoprotein L, 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320008 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 1309591 Apol2 apolipoprotein L, 2 gene DOID:9505 cannabis abuse ISO RGD:1320008 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 1309592 Aopep aminopeptidase O gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1309592 Aopep aminopeptidase O gene DOID:0060224 atrial fibrillation ISO RGD:1320010 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015|PMID:30061737 1309592 Aopep aminopeptidase O gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:10431244|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19278965|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08844212|PMID:09616183|PMID:12670332|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28492532|PMID:28767289|PMID:30031030|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1320010 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 1309592 Aopep aminopeptidase O gene DOID:1059 intellectual disability ISO RGD:1320010 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309592 Aopep aminopeptidase O gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17703323|PMID:17924555|PMID:19557015|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22382802|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:1520 colon carcinoma ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 1309592 Aopep aminopeptidase O gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32885271|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:2394 ovarian cancer ISO RGD:1320010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1309592 Aopep aminopeptidase O gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 1309592 Aopep aminopeptidase O gene DOID:5426 primary ovarian insufficiency ISO RGD:1320010 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1309592 Aopep aminopeptidase O gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320010 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 1309592 Aopep aminopeptidase O gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309592 Aopep aminopeptidase O gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:7240710 20211124 OMIM 1309592 Aopep aminopeptidase O gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dystonia 31 PMID:25741868|PMID:34596301 1309592 Aopep aminopeptidase O gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08844212|PMID:08882868|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20869034|PMID:21520333|PMID:22720145|PMID:23028338|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30967997|PMID:31589614|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:8103176|PMID:8844212|PMID:8882868|PMID:9207444 1309592 Aopep aminopeptidase O gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29641532|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309592 Aopep aminopeptidase O gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 1309593 Dlx1 distal-less homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21302352 1309593 Dlx1 distal-less homeobox 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320012 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309593 Dlx1 distal-less homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1320012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 1309593 Dlx1 distal-less homeobox 1 gene DOID:630 genetic disease ISO RGD:1320012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309593 Dlx1 distal-less homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1320014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:27596865|PMID:28492532|PMID:31456290 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0050795 cone dystrophy ISO RGD:1320014 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:7240710 20200506 OMIM 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia PMID:11702989|PMID:20503334|PMID:21910225|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:33307614 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:10584 retinitis pigmentosa ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:12849 autistic disorder ISO RGD:1320014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320014 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27455348 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320014 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:8501 fundus dystrophy ISO RGD:1320014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:26992781|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:30029497|PMID:32036094|PMID:33307614|PMID:9536098 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320014 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:7240710 20190315 OMIM 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma PMID:25741868|PMID:26167768|PMID:26294103|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:34915818 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:9263 homocystinuria ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1309594 Cfap410 cilia and flagella associated protein 410 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309595 Taf15 TATA-box binding protein associated factor 15 gene DOID:3347 osteosarcoma ISO RGD:1320016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 1309595 Taf15 TATA-box binding protein associated factor 15 gene DOID:3371 chondrosarcoma ISO RGD:1320016 D RGD:1599281|PMID:10602519 20070129 RGD extraskeletal myxoid chondrosarcomas (EMC) 1309595 Taf15 TATA-box binding protein associated factor 15 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1320016 D RGD:7240710 20130425 OMIM 1309595 Taf15 TATA-box binding protein associated factor 15 gene DOID:630 genetic disease ISO RGD:1320016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309595 Taf15 TATA-box binding protein associated factor 15 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309595 Taf15 TATA-box binding protein associated factor 15 gene DOID:9000918 Disease Progression ISO RGD:1320016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309597 Tubgcp2 tubulin, gamma complex associated protein 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320019 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1309597 Tubgcp2 tubulin, gamma complex associated protein 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:7240710 20200226 OMIM 1309597 Tubgcp2 tubulin, gamma complex associated protein 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures PMID:25741868|PMID:31630790 1309597 Tubgcp2 tubulin, gamma complex associated protein 2 gene DOID:630 genetic disease ISO RGD:1320019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309598 Ankfy1 ankyrin repeat and FYVE domain containing 1 gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISS RGD:1320022 D RGD:13592920 20190718 MouseDO OMIM:270550 1309598 Ankfy1 ankyrin repeat and FYVE domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1309598 Ankfy1 ankyrin repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1320021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309599 Akr1e2 aldo-keto reductase family 1, member E2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320023 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1309599 Akr1e2 aldo-keto reductase family 1, member E2 gene DOID:5419 schizophrenia ISO RGD:1320023 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309599 Akr1e2 aldo-keto reductase family 1, member E2 gene DOID:630 genetic disease ISO RGD:1320023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309600 Ak7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:7240710 20190315 OMIM 1309600 Ak7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 27 PMID:25741868|PMID:28492532|PMID:29365104 1309600 Ak7 adenylate kinase 7 gene DOID:10908 hydrocephalus ISS RGD:1617449 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1309600 Ak7 adenylate kinase 7 gene DOID:630 genetic disease ISO RGD:1320025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309600 Ak7 adenylate kinase 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18776131|PMID:20537283|PMID:22801010 1309601 Lrrc8d leucine rich repeat containing 8 VRAC subunit D gene DOID:630 genetic disease ISO RGD:1320026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309602 Tmem185b transmembrane protein 185B gene DOID:630 genetic disease ISO RGD:1345380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309603 Csta cystatin A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:11807402|PMID:20798521|PMID:28492532 1309603 Csta cystatin A gene DOID:3068 glioblastoma ISO RGD:1320029 D RGD:11554173 20161122 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 1309603 Csta cystatin A gene DOID:630 genetic disease ISO RGD:1320029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309603 Csta cystatin A gene DOID:9000918 Disease Progression ISO RGD:1320029 D RGD:11554173 20161122 CTD CTD Direct Evidence: marker/mechanism PMID:20461718|PMID:22287159 1309603 Csta cystatin A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320029 D RGD:11554173 20161122 CTD CTD Direct Evidence: marker/mechanism PMID:20461718 1309603 Csta cystatin A gene DOID:9007796 Peeling Skin Syndrome 4 ISO RGD:1320029 D RGD:7240710 20161116 OMIM 1309603 Csta cystatin A gene DOID:9007796 Peeling Skin Syndrome 4 ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 4 PMID:12890214|PMID:21944047|PMID:22066523|PMID:23534700|PMID:25400170 1309603 Csta cystatin A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320029 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1309603 Csta cystatin A gene DOID:9270 alkaptonuria ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1309604 Tbccd1 TBCC domain containing 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1605661 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1309604 Tbccd1 TBCC domain containing 1 gene DOID:630 genetic disease ISO RGD:1605661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309605 Mindy3 MINDY lysine 48 deubiquitinase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320032 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1309605 Mindy3 MINDY lysine 48 deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1320032 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309605 Mindy3 MINDY lysine 48 deubiquitinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320032 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309606 Nnmt nicotinamide N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:1320034 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309606 Nnmt nicotinamide N-methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1320034 D RGD:2299120|PMID:17070307 20080812 RGD mRNA:increased expression:kidney 1309606 Nnmt nicotinamide N-methyltransferase gene DOID:630 genetic disease ISO RGD:1320034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309606 Nnmt nicotinamide N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1320034 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309606 Nnmt nicotinamide N-methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320034 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309607 Emilin3 elastin microfibril interfacer 3 gene DOID:2234 focal epilepsy ISO RGD:1320036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309607 Emilin3 elastin microfibril interfacer 3 gene DOID:630 genetic disease ISO RGD:1320036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309607 Emilin3 elastin microfibril interfacer 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320036 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1309610 Dapl1 death associated protein-like 1 gene DOID:630 genetic disease ISO RGD:1603932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309611 Pla2g2e phospholipase A2, group IIE gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1309611 Pla2g2e phospholipase A2, group IIE gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309611 Pla2g2e phospholipase A2, group IIE gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1309611 Pla2g2e phospholipase A2, group IIE gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1309611 Pla2g2e phospholipase A2, group IIE gene DOID:630 genetic disease ISO RGD:1320041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309611 Pla2g2e phospholipase A2, group IIE gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1309612 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1320043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:25741868 1309612 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309612 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:9004538 Hearing Loss ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 1309613 Usp40 ubiquitin specific peptidase 40 gene DOID:0060476 Perlman syndrome ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1309613 Usp40 ubiquitin specific peptidase 40 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1309613 Usp40 ubiquitin specific peptidase 40 gene DOID:630 genetic disease ISO RGD:1320045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309614 Dtymk deoxythymidylate kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309614 Dtymk deoxythymidylate kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309614 Dtymk deoxythymidylate kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320047 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1309614 Dtymk deoxythymidylate kinase gene DOID:1059 intellectual disability ISO RGD:1320047 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309614 Dtymk deoxythymidylate kinase gene DOID:630 genetic disease ISO RGD:1320047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309614 Dtymk deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:7240710 20220629 OMIM 1309614 Dtymk deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly PMID:31271740|PMID:34918187|PMID:34926941 1309614 Dtymk deoxythymidylate kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1309614 Dtymk deoxythymidylate kinase gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:5133686|PMID:6244089 20110622 RGD protein:increased activity:tumor (rat) 1309615 Upk3b uroplakin 3B gene DOID:0080600 COVID-19 ISO RGD:1320049 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309615 Upk3b uroplakin 3B gene DOID:630 genetic disease ISO RGD:1320049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309615 Upk3b uroplakin 3B gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1320049 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1309616 Wdr76 WD repeat domain 76 gene DOID:2717 Bloom syndrome ISO RGD:1605336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309616 Wdr76 WD repeat domain 76 gene DOID:630 genetic disease ISO RGD:1605336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309616 Wdr76 WD repeat domain 76 gene DOID:684 hepatocellular carcinoma ISO RGD:1605336 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309616 Wdr76 WD repeat domain 76 gene DOID:9256 colorectal cancer ISO RGD:1605336 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1320052 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia 1309618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1309618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy ISO RGD:1320052 D RGD:7240710 20130221 OMIM 1309618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 PMID:12244316|PMID:24355542|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29641532|PMID:31130284|PMID:32371905 1309618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:2661 myoepithelioma ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1309618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1320052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 1309619 Atp8a1 ATPase phospholipid transporting 8A1 gene DOID:630 genetic disease ISO RGD:1320053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309620 Ank1 ankyrin 1 gene DOID:0080006 bone development disease ISO RGD:1320055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18728347 1309620 Ank1 ankyrin 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1309620 Ank1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:7240710 20130221 OMIM 1309620 Ank1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive PMID:11102985|PMID:11167760|PMID:11372755|PMID:12899723|PMID:1486040|PMID:15071790|PMID:16037067|PMID:16199547|PMID:17327413|PMID:22573887|PMID:24033266|PMID:25741868|PMID:26830532|PMID:27292444|PMID:27427187|PMID:28492532|PMID:29597199|PMID:31016877|PMID:31122244|PMID:31669644|PMID:31980736|PMID:32436265|PMID:32518793|PMID:32641076|PMID:33014018|PMID:33074480|PMID:33116287|PMID:7883994|PMID:8640229|PMID:9590147 1309620 Ank1 ankyrin 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1309620 Ank1 ankyrin 1 gene DOID:10907 microcephaly ISO RGD:1320055 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309620 Ank1 ankyrin 1 gene DOID:12365 malaria ISS RGD:1320056 D RGD:13592920 20180518 MouseDO OMIM:609148 | OMIM:611162 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320055 D RGD:11251680|PMID:9054656 20160616 RGD DNA:deletion:cds: 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320055 D RGD:1578350|PMID:8640229 19990101 RGD 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320055 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:25741868|PMID:28492532 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320056 D RGD:11041609|PMID:23390527 20160616 RGD DNA:mutation: : 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320056 D RGD:11251674|PMID:21193012 20160616 RGD DNA:mutation:exon:p.E924X(mouse) 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320056 D RGD:11251675|PMID:23934996 20160616 RGD DNA:transition mutation:intron: 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320056 D RGD:11251676|PMID:19179303 20160616 RGD DNA:transversion mutation:splice site:1674G>C(mouse) 1309620 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis severity ISO RGD:1320056 D RGD:11251681|PMID:14671619 20160616 RGD DNA:deletion mutation:exon: 1309620 Ank1 ankyrin 1 gene DOID:224 transient cerebral ischemia IEP D RGD:1599109|PMID:9202331 20070117 RGD 1309620 Ank1 ankyrin 1 gene DOID:2355 anemia ISO RGD:1320055 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 1309620 Ank1 ankyrin 1 gene DOID:2355 anemia severity ISO RGD:1320055 D RGD:11251706|PMID:11372755 20160617 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: 1309620 Ank1 ankyrin 1 gene DOID:630 genetic disease ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309620 Ank1 ankyrin 1 gene DOID:9000582 Reticulocytosis severity ISO RGD:1320055 D RGD:11251706|PMID:11372755 20160617 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: 1309620 Ank1 ankyrin 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1320056 D RGD:11041609|PMID:23390527 20160616 RGD 1309620 Ank1 ankyrin 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1599110|PMID:9378703 20070117 RGD 1309620 Ank1 ankyrin 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1309621 Resf1 retroelement silencing factor 1 gene DOID:630 genetic disease ISO RGD:1605655 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309622 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1320058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1309622 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0050777 Joubert syndrome ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309622 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320058 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1309622 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1309622 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1320058 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309622 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:630 genetic disease ISO RGD:1320058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309623 Galnt18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:630 genetic disease ISO RGD:1347297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309623 Galnt18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:1347297 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:25741868 1309624 Eapp E2F-associated phosphoprotein gene DOID:630 genetic disease ISO RGD:1320061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309624 Eapp E2F-associated phosphoprotein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:630 genetic disease ISO RGD:1320063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:9000918 Disease Progression ISO RGD:1320063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320063 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 1309625 Cdkl2 cyclin dependent kinase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 1309626 Pcbp2 poly(rC) binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320065 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309627 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:1059 intellectual disability ISO RGD:1601854 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309627 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:37 skin disease ISO RGD:1601854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309627 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:630 genetic disease ISO RGD:1601854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309627 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:9007964 Arsenic Poisoning ISO RGD:1601854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0050770 polycystic liver disease ISO RGD:1320068 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:21685914|PMID:24719335 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0050770 polycystic liver disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0080322 polycystic kidney disease ISO RGD:1320068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:0111254 glutaric acidemia I ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:2043 hepatitis B treatment ISO RGD:1320069 D RGD:14402034|PMID:24769044 20190523 RGD 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:3413 alpha-mannosidosis ISO RGD:1320068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:409 liver disease ISO RGD:1320068 D RGD:1599188|PMID:12529853 20070118 RGD 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:630 genetic disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:14402048|PMID:15057895 20190528 RGD DNA:splice site mutations, deletions:multiple 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:7240710 20130221 OMIM 1309628 Prkcsh protein kinase C substrate 80K-H gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:11047756|PMID:12529853|PMID:12577059|PMID:16835903|PMID:22415584|PMID:25741868|PMID:26046366|PMID:28166811|PMID:28492532|PMID:29038287 1309629 Midn midnolin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1309629 Midn midnolin gene DOID:5339 cyclic hematopoiesis ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1309629 Midn midnolin gene DOID:630 genetic disease ISO RGD:1320070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309630 Gja10 gap junction protein, alpha 10 gene DOID:630 genetic disease ISO RGD:1603289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309631 Lmbr1l limb development membrane protein 1-like gene DOID:630 genetic disease ISO RGD:1603995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309632 Kcna7 potassium voltage-gated channel subfamily A member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1309632 Kcna7 potassium voltage-gated channel subfamily A member 7 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 1309632 Kcna7 potassium voltage-gated channel subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1320074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309633 Wdr27 WD repeat domain 27 gene DOID:630 genetic disease ISO RGD:1351994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309634 Fam193a family with sequence similarity 193, member A gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320077 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1309634 Fam193a family with sequence similarity 193, member A gene DOID:1856 cherubism ISO RGD:1320077 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1309634 Fam193a family with sequence similarity 193, member A gene DOID:630 genetic disease ISO RGD:1320077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309635 Tchh trichohyalin gene DOID:0111940 immunodeficiency 42 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309635 Tchh trichohyalin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309635 Tchh trichohyalin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309635 Tchh trichohyalin gene DOID:1540 parathyroid carcinoma ISO RGD:1320079 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309635 Tchh trichohyalin gene DOID:5812 MHC class II deficiency ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309635 Tchh trichohyalin gene DOID:630 genetic disease ISO RGD:1320079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309635 Tchh trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:7240710 20190315 OMIM 1309635 Tchh trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 3 PMID:25741868|PMID:27866708 1309635 Tchh trichohyalin gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1320079 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1309635 Tchh trichohyalin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320079 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309638 Guk1 guanylate kinase 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 1309638 Guk1 guanylate kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309638 Guk1 guanylate kinase 1 gene DOID:630 genetic disease ISO RGD:1320084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309638 Guk1 guanylate kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5147874|PMID:17465459 20110826 RGD protein:decreased expression:retina (rat) 1309638 Guk1 guanylate kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320084 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:0050592 asphyxiating thoracic dystrophy ISS RGD:1320089 D RGD:13592920 20180518 MouseDO 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:0080725 BASAN syndrome ISO RGD:1320088 D RGD:7240710 20190315 OMIM 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:0080725 BASAN syndrome ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basan syndrome PMID:20619487|PMID:21820097|PMID:24664640|PMID:25741868|PMID:26932190 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:0111357 adermatoglyphia ISO RGD:1320088 D RGD:7240710 20141015 OMIM 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:0111357 adermatoglyphia ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adermatoglyphia PMID:10631162|PMID:20619487|PMID:21820097|PMID:24909267|PMID:25741868|PMID:26932190|PMID:29409814 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:630 genetic disease ISO RGD:1320088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:9001225 Sclerotylosis ISO RGD:1320088 D RGD:7240710 20190424 OMIM 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:9001225 Sclerotylosis ISO RGD:1320088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities PMID:10631162|PMID:24909267|PMID:25741868|PMID:29409814|PMID:4298032|PMID:8731679 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320088 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1309640 Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320088 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 1309641 Kmt2e lysine methyltransferase 2E gene DOID:0050908 myelodysplastic syndrome ISO RGD:1622294 D RGD:9588548|PMID:18952892 20141030 RGD 1309641 Kmt2e lysine methyltransferase 2E gene DOID:0060041 autism spectrum disorder ISO RGD:1320090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1309641 Kmt2e lysine methyltransferase 2E gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1320090 D RGD:9588539|PMID:24796963 20141030 RGD mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) 1309641 Kmt2e lysine methyltransferase 2E gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868|PMID:28492532 1309641 Kmt2e lysine methyltransferase 2E gene DOID:10283 prostate cancer ISO RGD:1320090 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 1309641 Kmt2e lysine methyltransferase 2E gene DOID:1240 leukemia ISO RGD:1320090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18818388 1309641 Kmt2e lysine methyltransferase 2E gene DOID:12849 autistic disorder ISO RGD:1320090 D RGD:9588547|PMID:25284784 20141030 RGD DNA:insertions, deletions:multiple (human) 1309641 Kmt2e lysine methyltransferase 2E gene DOID:1612 breast cancer ISO RGD:1320090 D RGD:9588236|PMID:23754336 20141030 RGD mRNA:decreased expression:breast (human) 1309641 Kmt2e lysine methyltransferase 2E gene DOID:1826 epilepsy ISO RGD:1320090 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31079897 1309641 Kmt2e lysine methyltransferase 2E gene DOID:4362 cervical cancer ISO RGD:1320090 D RGD:9588553|PMID:25172963 20141030 RGD human gene in a mouse model 1309641 Kmt2e lysine methyltransferase 2E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320090 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309641 Kmt2e lysine methyltransferase 2E gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320090 D RGD:9588555|PMID:16046540 20141030 RGD protein:increased expression:peripheral blood, T cell, CD4+ (human) 1309641 Kmt2e lysine methyltransferase 2E gene DOID:630 genetic disease ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31079897|PMID:33004838 1309641 Kmt2e lysine methyltransferase 2E gene DOID:8692 myeloid leukemia ISO RGD:1320090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18854576 1309641 Kmt2e lysine methyltransferase 2E gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:7240710 20190918 OMIM 1309641 Kmt2e lysine methyltransferase 2E gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebellar vermis | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome PMID:25741868|PMID:28492532|PMID:31079897 1309641 Kmt2e lysine methyltransferase 2E gene DOID:9002704 Leukoencephalopathies ISO RGD:1320090 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868 1309641 Kmt2e lysine methyltransferase 2E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320090 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1309641 Kmt2e lysine methyltransferase 2E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320090 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309641 Kmt2e lysine methyltransferase 2E gene DOID:9008086 Developmental Disabilities ISO RGD:1320090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1309642 Adat2 adenosine deaminase, tRNA-specific 2 gene DOID:630 genetic disease ISO RGD:1320091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309643 Foxk1 forkhead box K1 gene DOID:11372 megacolon ISO RGD:1604502 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1309643 Foxk1 forkhead box K1 gene DOID:630 genetic disease ISO RGD:1604502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309644 Klhl30 kelch-like family member 30 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309644 Klhl30 kelch-like family member 30 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309644 Klhl30 kelch-like family member 30 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1309644 Klhl30 kelch-like family member 30 gene DOID:1059 intellectual disability ISO RGD:1606872 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309644 Klhl30 kelch-like family member 30 gene DOID:630 genetic disease ISO RGD:1606872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309644 Klhl30 kelch-like family member 30 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1309645 Irf6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:7240710 20130221 OMIM 1309645 Irf6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome PMID:12219090|PMID:14757865|PMID:15558496|PMID:16096995|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19734457|PMID:20803643|PMID:22440537|PMID:22488974|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25691407|PMID:25741868|PMID:28492532|PMID:29453417 1309645 Irf6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16211254|PMID:16998136|PMID:18813858 1309645 Irf6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:7240710 20130221 OMIM 1309645 Irf6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip and/or palate with mucous cysts of lower lip | ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:12219090|PMID:12920575|PMID:14618417|PMID:14757865|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:27243668|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30689861|PMID:31468312 1309645 Irf6 interferon regulatory factor 6 gene DOID:0080403 orofacial cleft 10 ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:26346622|PMID:27834299|PMID:28762674|PMID:28762675|PMID:28762676 1309645 Irf6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:7240710 20191127 OMIM 1309645 Irf6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to PMID:12219090|PMID:12920575|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:16998136|PMID:17551329|PMID:17576681|PMID:18209213|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23713753|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:28361103|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30982524|PMID:31468312|PMID:31901040|PMID:9536098 1309645 Irf6 interferon regulatory factor 6 gene DOID:11193 syndactyly ISO RGD:1320095 D RGD:1600214|PMID:12219090 20070302 RGD popliteal pterygium syndrome, OMIM:119500 1309645 Irf6 interferon regulatory factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1320095 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309645 Irf6 interferon regulatory factor 6 gene DOID:630 genetic disease ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12219090|PMID:16199547|PMID:19282774|PMID:19623037|PMID:21468557|PMID:25579819|PMID:28492532 1309645 Irf6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 1309645 Irf6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:12436724|PMID:20672350 20170518 RGD DNA:SNPs, haplotype: :rs9430018, rs17389541 (human) 1309645 Irf6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:1600214|PMID:12219090 20070302 RGD van der Woude syndrome, OMIM:119300 1309645 Irf6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:12920575|PMID:25741868 1309645 Irf6 interferon regulatory factor 6 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1320095 D RGD:1600214|PMID:12219090 20070302 RGD popliteal pterygium syndrome, OMIM:119500 1309645 Irf6 interferon regulatory factor 6 gene DOID:9001946 Skin Abnormalities ISO RGD:1320095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 1309645 Irf6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 1309645 Irf6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:1600214|PMID:12219090 20070302 RGD popliteal pterygium syndrome, OMIM:119500 1309645 Irf6 interferon regulatory factor 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 1309645 Irf6 interferon regulatory factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320095 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309645 Irf6 interferon regulatory factor 6 gene DOID:9296 cleft lip ISO RGD:1320095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17041601|PMID:18836445|PMID:20436469 1309645 Irf6 interferon regulatory factor 6 gene DOID:9296 cleft lip ISO RGD:1320095 D RGD:1600214|PMID:12219090 20070302 RGD van der Woude syndrome, OMIM:119300 1309645 Irf6 interferon regulatory factor 6 gene DOID:9296 cleft lip ISO RGD:1320095 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:28492532 1309646 Aga aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:7240710 20130221 OMIM 1309646 Aga aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type PMID:10399108|PMID:10571008|PMID:11309371|PMID:11754099|PMID:15365992|PMID:1559710|PMID:16199547|PMID:1703489|PMID:1722323|PMID:1756604|PMID:17576681|PMID:1765378|PMID:1879549|PMID:18992224|PMID:1904874|PMID:2011603|PMID:21228398|PMID:23271757|PMID:24033266|PMID:25456816|PMID:25525159|PMID:25741868|PMID:27876883|PMID:2811876|PMID:28492532|PMID:29247835|PMID:29930972|PMID:29993127|PMID:30564628|PMID:33439067|PMID:6883788|PMID:7627186|PMID:7881426|PMID:8064811|PMID:8172656|PMID:8457202|PMID:8702913|PMID:8776587|PMID:8830180|PMID:9137882|PMID:9536098|PMID:9737998|PMID:9742145 1309646 Aga aspartylglucosaminidase gene DOID:1059 intellectual disability ISO RGD:1320096 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 1309646 Aga aspartylglucosaminidase gene DOID:3211 lysosomal storage disease susceptibility ISO RGD:1320096 D RGD:1598773|PMID:1703489 20061219 RGD 1309646 Aga aspartylglucosaminidase gene DOID:630 genetic disease ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11309371|PMID:1722323|PMID:25741868|PMID:28492532|PMID:29247835|PMID:7627186 1309646 Aga aspartylglucosaminidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 1309648 Zfp142 zinc finger protein 142 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1320100 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1309648 Zfp142 zinc finger protein 142 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1309648 Zfp142 zinc finger protein 142 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1309648 Zfp142 zinc finger protein 142 gene DOID:1826 epilepsy ISO RGD:1320100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309648 Zfp142 zinc finger protein 142 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1309648 Zfp142 zinc finger protein 142 gene DOID:630 genetic disease ISO RGD:1320100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1309648 Zfp142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:7240710 20190612 OMIM 1309648 Zfp142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements PMID:25741868|PMID:31036918 1309648 Zfp142 zinc finger protein 142 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320100 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309648 Zfp142 zinc finger protein 142 gene DOID:9008086 Developmental Disabilities ISO RGD:1320100 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:7240710 20130221 OMIM 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1320101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25429852|PMID:28492532 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:7240710 20130221 OMIM 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11868161|PMID:15953459|PMID:16199547|PMID:17576681|PMID:21447491|PMID:22171637|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31872526|PMID:32188692|PMID:34410188|PMID:34795310|PMID:9536098 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:1599618|PMID:11176989 20070208 RGD bothnia dystrophy, OMIM:180090 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8547535|PMID:23701314 20140217 RGD 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:32188692|PMID:33188265|PMID:34410188|PMID:34795310|PMID:9326942 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:7240710 20130221 OMIM 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:34795310|PMID:9326942|PMID:9536098 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1320101 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:4448 macular degeneration ISO RGD:1320101 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:630 genetic disease ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:8499 night blindness ISO RGD:1320101 D RGD:1599620|PMID:11453974 20070208 RGD Fundus albipunctatus, OMIM:180090 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102299|PMID:11301032|PMID:12536144|PMID:18344446|PMID:21447491|PMID:22551409|PMID:2392416|PMID:23929416|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1320101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320101 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 1309649 Rlbp1 retinaldehyde binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320101 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309650 Efcab5 EF-hand calcium binding domain 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1309650 Efcab5 EF-hand calcium binding domain 5 gene DOID:630 genetic disease ISO RGD:1606096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309651 RGD1309651 similar to 1190005I06Rik protein gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606366 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1309651 RGD1309651 similar to 1190005I06Rik protein gene DOID:630 genetic disease ISO RGD:1606366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309652 Tm4sf1 transmembrane 4 L six family member 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1320105 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1309652 Tm4sf1 transmembrane 4 L six family member 1 gene DOID:630 genetic disease ISO RGD:1320105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:0060041 autism spectrum disorder ISO RGD:1320107 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:1059 intellectual disability ISO RGD:1320107 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:12849 autistic disorder ISO RGD:1320107 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:219 colon cancer ISO RGD:1320108 D RGD:150520184|PMID:20133777 20211104 RGD 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:219 colon cancer exacerbates ISO RGD:1320108 D RGD:150520192|PMID:27447856 20220202 RGD 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:2234 focal epilepsy ISO RGD:1320107 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1320107 D RGD:150520191|PMID:25967969 20211104 RGD DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:5419 schizophrenia ISO RGD:1320107 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:630 genetic disease ISO RGD:1320107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309653 Ptprt protein tyrosine phosphatase, receptor type, T gene DOID:9256 colorectal cancer treatment ISO RGD:1320107 D RGD:150520195|PMID:30200630 20211104 RGD DNA:deletion: 1309654 Sox14 SRY-box transcription factor 14 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1320109 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1309654 Sox14 SRY-box transcription factor 14 gene DOID:630 genetic disease ISO RGD:1320109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309655 Cep95 centrosomal protein 95 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1601939 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1309655 Cep95 centrosomal protein 95 gene DOID:630 genetic disease ISO RGD:1601939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309656 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1309656 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:630 genetic disease ISO RGD:1605561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309656 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:7240710 20190315 OMIM 1309656 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type PMID:25741868|PMID:26365339|PMID:28492532 1309657 Ypel5 yippee-like 5 gene DOID:630 genetic disease ISO RGD:1320113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309658 Snai3 snail family transcriptional repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1320115 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1309658 Snai3 snail family transcriptional repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1320115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1309658 Snai3 snail family transcriptional repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1320115 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1309658 Snai3 snail family transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1320115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309658 Snai3 snail family transcriptional repressor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1320115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 1309658 Snai3 snail family transcriptional repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1320115 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1309659 Arrdc2 arrestin domain containing 2 gene DOID:630 genetic disease ISO RGD:1320117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309659 Arrdc2 arrestin domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1309660 Tmem161b transmembrane protein 161B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309660 Tmem161b transmembrane protein 161B gene DOID:630 genetic disease ISO RGD:1603558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309660 Tmem161b transmembrane protein 161B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603558 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309660 Tmem161b transmembrane protein 161B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309661 Klhl5 kelch-like family member 5 gene DOID:630 genetic disease ISO RGD:1320120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309661 Klhl5 kelch-like family member 5 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1309661 Klhl5 kelch-like family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1309663 Pdcl3 phosducin-like 3 gene DOID:630 genetic disease ISO RGD:1320124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309664 Atg4b autophagy related 4B, cysteine peptidase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309664 Atg4b autophagy related 4B, cysteine peptidase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1309664 Atg4b autophagy related 4B, cysteine peptidase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1309664 Atg4b autophagy related 4B, cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1320126 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309664 Atg4b autophagy related 4B, cysteine peptidase gene DOID:630 genetic disease ISO RGD:1320126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309664 Atg4b autophagy related 4B, cysteine peptidase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1309665 Zbed3 zinc finger, BED-type containing 3 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 1309665 Zbed3 zinc finger, BED-type containing 3 gene DOID:630 genetic disease ISO RGD:1320128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309665 Zbed3 zinc finger, BED-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320128 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309666 Crtc3 CREB regulated transcription coactivator 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1309666 Crtc3 CREB regulated transcription coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1604314 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309666 Crtc3 CREB regulated transcription coactivator 3 gene DOID:2717 Bloom syndrome ISO RGD:1604314 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309666 Crtc3 CREB regulated transcription coactivator 3 gene DOID:630 genetic disease ISO RGD:1604314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309666 Crtc3 CREB regulated transcription coactivator 3 gene DOID:9256 colorectal cancer ISO RGD:1604314 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320131 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:1793 pancreatic cancer ISO RGD:1320131 D RGD:155804299|PMID:28351319 20230116 RGD mRNA, protein:decreased expression:pancreas (human) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:4362 cervical cancer ISO RGD:1320131 D RGD:155882439|PMID:35853859 20230117 RGD human cells in mouse model 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1320131 D RGD:155882439|PMID:35853859 20230117 RGD mRNA, protein:increased expression:cervix (human) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:11062353|PMID:22541558 20230116 RGD DNA:mutations, haploinsufficiency:exon:multiple (human) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:155804295|PMID:23568615 20230116 RGD DNA:mutations:exon:multiple (human) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:7240710 20130731 OMIM 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nager syndrome PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:5812 MHC class II deficiency ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:630 genetic disease ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:26228803|PMID:28492532 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:684 hepatocellular carcinoma IEP D RGD:155791679|PMID:29059470 20230105 RGD mRNA, protein:increased expression:liver (rat) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:155791679|PMID:29059470 20230105 RGD mRNA, protein:increased expression:liver (human) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:155804298|PMID:30391496 20230116 RGD human cells in mouse model 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1320131 D RGD:155804298|PMID:30391496 20230116 RGD mRNA, protein:increased expression:liver(human) 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1320132 D RGD:155791679|PMID:29059470 20230105 RGD 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1320131 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:9005616 Micrognathism ISO RGD:1320131 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:9009121 lung metastasis ISO RGD:1320131 D RGD:155804298|PMID:30391496 20230116 RGD human cells in mouse model 1309667 Sf3b4 splicing factor 3B subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320131 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309668 Dcun1d1 defective in cullin neddylation 1 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602219 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1309668 Dcun1d1 defective in cullin neddylation 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309669 Acot6 acyl-CoA thioesterase 6 gene DOID:1059 intellectual disability ISO RGD:1605747 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309669 Acot6 acyl-CoA thioesterase 6 gene DOID:5419 schizophrenia ISO RGD:1605747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1309669 Acot6 acyl-CoA thioesterase 6 gene DOID:630 genetic disease ISO RGD:1605747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309670 Zfp236 zinc finger protein 236 gene DOID:0050753 cerebellar ataxia ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 1309670 Zfp236 zinc finger protein 236 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320136 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1309670 Zfp236 zinc finger protein 236 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1320136 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1309670 Zfp236 zinc finger protein 236 gene DOID:630 genetic disease ISO RGD:1320136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309670 Zfp236 zinc finger protein 236 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1309670 Zfp236 zinc finger protein 236 gene DOID:8445 intestinal volvulus ISO RGD:1320136 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1309670 Zfp236 zinc finger protein 236 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1320136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1309670 Zfp236 zinc finger protein 236 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320136 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309670 Zfp236 zinc finger protein 236 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320136 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1309672 Man1c1 mannosidase, alpha, class 1C, member 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320140 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1309672 Man1c1 mannosidase, alpha, class 1C, member 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1309672 Man1c1 mannosidase, alpha, class 1C, member 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 1309672 Man1c1 mannosidase, alpha, class 1C, member 1 gene DOID:630 genetic disease ISO RGD:1320140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1320142 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1320142 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1320142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:7240710 20190315 OMIM 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopia 25, autosomal dominant PMID:25741866|PMID:25741868|PMID:28492532 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320142 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309673 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309674 Sox13 SRY-box transcription factor 13 gene DOID:0080600 COVID-19 ISO RGD:1320144 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309674 Sox13 SRY-box transcription factor 13 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1309674 Sox13 SRY-box transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1320144 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309674 Sox13 SRY-box transcription factor 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320144 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309674 Sox13 SRY-box transcription factor 13 gene DOID:630 genetic disease ISO RGD:1320144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309674 Sox13 SRY-box transcription factor 13 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320144 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1309674 Sox13 SRY-box transcription factor 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320144 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309675 Slc16a14 solute carrier family 16, member 14 gene DOID:630 genetic disease ISO RGD:1320146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309677 Cd83 CD83 molecule gene DOID:37 skin disease ISO RGD:1320150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309677 Cd83 CD83 molecule gene DOID:630 genetic disease ISO RGD:1320150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309677 Cd83 CD83 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309677 Cd83 CD83 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1320150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 1309677 Cd83 CD83 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309677 Cd83 CD83 molecule gene DOID:9007964 Arsenic Poisoning ISO RGD:1320150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1309678 Colec11 collectin sub-family member 11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 1309678 Colec11 collectin sub-family member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 1309678 Colec11 collectin sub-family member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:7240710 20141015 OMIM 1309678 Colec11 collectin sub-family member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 2 PMID:21258343|PMID:2569826|PMID:25741868|PMID:28301481|PMID:28492532|PMID:8933348 1309678 Colec11 collectin sub-family member 11 gene DOID:0060577 3MC syndrome 3 ISO RGD:1320152 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 1309678 Colec11 collectin sub-family member 11 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1320152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 1309678 Colec11 collectin sub-family member 11 gene DOID:10123 pigmentation disease ISO RGD:1320152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 1309678 Colec11 collectin sub-family member 11 gene DOID:630 genetic disease ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309678 Colec11 collectin sub-family member 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 1309679 Thap12 THAP domain containing 12 gene DOID:1059 intellectual disability ISO RGD:1320154 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309679 Thap12 THAP domain containing 12 gene DOID:630 genetic disease ISO RGD:1320154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309680 Slc44a2 solute carrier family 44 member 2 gene DOID:630 genetic disease ISO RGD:1601745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309680 Slc44a2 solute carrier family 44 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309681 Npas2 neuronal PAS domain protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320157 D RGD:8554872 20160816 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25956372 1309681 Npas2 neuronal PAS domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1320157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 1309681 Npas2 neuronal PAS domain protein 2 gene DOID:630 genetic disease ISO RGD:1320157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309681 Npas2 neuronal PAS domain protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309681 Npas2 neuronal PAS domain protein 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:1320157 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31284022 1309682 Tmem209 transmembrane protein 209 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605919 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309682 Tmem209 transmembrane protein 209 gene DOID:630 genetic disease ISO RGD:1605919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309683 Ppme1 protein phosphatase methylesterase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605082 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1309683 Ppme1 protein phosphatase methylesterase 1 gene DOID:1059 intellectual disability ISO RGD:1605082 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309683 Ppme1 protein phosphatase methylesterase 1 gene DOID:630 genetic disease ISO RGD:1605082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309685 Mif4gd MIF4G domain containing gene DOID:630 genetic disease ISO RGD:1606529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309686 Tbc1d17 TBC1 domain family, member 17 gene DOID:630 genetic disease ISO RGD:1320164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309687 Cpsf2 cleavage and polyadenylation specific factor 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1309687 Cpsf2 cleavage and polyadenylation specific factor 2 gene DOID:630 genetic disease ISO RGD:1320166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309688 Pprc1 PPARG related coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1320168 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309688 Pprc1 PPARG related coactivator 1 gene DOID:630 genetic disease ISO RGD:1320168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0050444 infantile Refsum disease ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:7240710 20170503 OMIM 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 PMID:11013442|PMID:21131976|PMID:22563501|PMID:22855961|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30505682|PMID:30957429|PMID:32042905|PMID:33804237|PMID:610060 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0080205 CAKUT ISO RGD:1320170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:7240710 20130221 OMIM 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 PMID:11013442|PMID:17576681|PMID:21131976|PMID:22563501|PMID:22855961|PMID:24942156|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30957429|PMID:32042905|PMID:33804237|PMID:610060|PMID:9536098 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1320170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25741868|PMID:26884178|PMID:27004399|PMID:28202063|PMID:28492532|PMID:30414346|PMID:33558524|PMID:35111200|PMID:36308448 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:1098 fetal erythroblastosis ISO RGD:1320170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:11713 diabetic angiopathy ISO RGD:1320170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:1612 breast cancer ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:1936 atherosclerosis ISO RGD:1320170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1320170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:630 genetic disease ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11013442|PMID:17576681|PMID:21131976|PMID:21549344|PMID:22277967|PMID:22855961|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:26151409|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29567474|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30957429|PMID:31099476|PMID:31885218|PMID:32042905|PMID:32080176|PMID:32319008|PMID:32581362|PMID:33804237|PMID:35305867|PMID:610060|PMID:9536098 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9000096 Lung Agenesis ISO RGD:1320170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9004538 Hearing Loss ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:22855961|PMID:25741868|PMID:26151409|PMID:28492532|PMID:30311386|PMID:32042905|PMID:33804237|PMID:610060 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:1320170 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:905 Zellweger syndrome ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309689 Polr1c RNA polymerase I and III subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 1309690 Hoxd4 homeo box D4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309690 Hoxd4 homeo box D4 gene DOID:630 genetic disease ISO RGD:1320172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309690 Hoxd4 homeo box D4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320172 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:15776434 1309690 Hoxd4 homeo box D4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320172 D RGD:8554872 20170926 ClinVar ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:15776434 1309691 Higd2a HIG1 hypoxia inducible domain family, member 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1309691 Higd2a HIG1 hypoxia inducible domain family, member 2A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1603886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1309691 Higd2a HIG1 hypoxia inducible domain family, member 2A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1603886 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1309691 Higd2a HIG1 hypoxia inducible domain family, member 2A gene DOID:630 genetic disease ISO RGD:1603886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309691 Higd2a HIG1 hypoxia inducible domain family, member 2A gene DOID:9007188 Liver Neoplasms ISO RGD:1603886 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1309696 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1320178 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dysmetria 1309696 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1309696 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1309696 Ahnak2 AHNAK nucleoprotein 2 gene DOID:630 genetic disease ISO RGD:1320178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309697 Mrps30 mitochondrial ribosomal protein S30 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309697 Mrps30 mitochondrial ribosomal protein S30 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309697 Mrps30 mitochondrial ribosomal protein S30 gene DOID:630 genetic disease ISO RGD:1320179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309697 Mrps30 mitochondrial ribosomal protein S30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320179 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309698 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:7240710 20200520 OMIM 1309698 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 PMID:25741868|PMID:30283131 1309698 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:630 genetic disease ISO RGD:1606925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309698 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1606925 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 1309699 Rhbdf2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:7240710 20130731 OMIM 1309699 Rhbdf2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome PMID:13209063|PMID:22265016|PMID:22638770|PMID:25741868|PMID:28492532|PMID:8508402 1309699 Rhbdf2 rhomboid 5 homolog 2 gene DOID:630 genetic disease ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309699 Rhbdf2 rhomboid 5 homolog 2 gene DOID:687 hepatoblastoma ISO RGD:1320182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 1309702 Wdr48 WD repeat domain 48 gene DOID:1561 cognitive disorder ISO RGD:1347511 D RGD:11554173 20230404 CTD CTD Direct Evidence: therapeutic PMID:36047109 1309702 Wdr48 WD repeat domain 48 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347511 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 1309702 Wdr48 WD repeat domain 48 gene DOID:630 genetic disease ISO RGD:1347511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309703 Adgrb3 adhesion G protein-coupled receptor B3 gene DOID:630 genetic disease ISO RGD:1320187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309703 Adgrb3 adhesion G protein-coupled receptor B3 gene DOID:9007661 Dwarfism ISO RGD:1320187 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1320189 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1320189 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1320189 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1320189 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320189 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1320189 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1309704 Bclaf1 BCL2-associated transcription factor 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 1309705 Nt5c1b 5'-nucleotidase, cytosolic IB gene DOID:630 genetic disease ISO RGD:1354038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309708 Ccdc181 coiled-coil domain containing 181 gene DOID:1540 parathyroid carcinoma ISO RGD:1602471 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309708 Ccdc181 coiled-coil domain containing 181 gene DOID:630 genetic disease ISO RGD:1602471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309708 Ccdc181 coiled-coil domain containing 181 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602471 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1309708 Ccdc181 coiled-coil domain containing 181 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602471 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309709 Mvb12b multivesicular body subunit 12B gene DOID:630 genetic disease ISO RGD:1320196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309709 Mvb12b multivesicular body subunit 12B gene DOID:9467 nail-patella syndrome ISO RGD:1320196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 1309710 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309710 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:1059 intellectual disability ISO RGD:1604820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309710 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:3070 high grade glioma ISO RGD:1604820 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1309710 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:630 genetic disease ISO RGD:1604820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309712 Tmem175 transmembrane protein 175 gene DOID:1856 cherubism ISO RGD:1604263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1309712 Tmem175 transmembrane protein 175 gene DOID:630 genetic disease ISO RGD:1604263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309712 Tmem175 transmembrane protein 175 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 1309713 Xrn1 5'-3' exoribonuclease 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348971 D RGD:11528589|PMID:22984654 20160816 RGD DNA:snp:intron:c.1883+365T>C (rs1351965) (human) 1309713 Xrn1 5'-3' exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1348971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309713 Xrn1 5'-3' exoribonuclease 1 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:1348971 D RGD:11530009|PMID:24847357 20160818 RGD DNA:snp:intron:c.2339+1477G>A (rs7643377) (human) 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0050952 spastic ataxia ISO RGD:1320201 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1320201 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:25741868|PMID:26467025|PMID:28492532 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:7240710 20130221 OMIM 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17453415|PMID:17576681|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:25359263|PMID:25401298|PMID:25590979|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:32171521|PMID:33024953|PMID:34597687|PMID:35505348|PMID:9536098 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:7240710 20180314 OMIM 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A PMID:12673792|PMID:12815591|PMID:14997940|PMID:18846690|PMID:19135028|PMID:19201763|PMID:21549341|PMID:21990111|PMID:25741868|PMID:26075876|PMID:26115733|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27903347|PMID:28492532|PMID:30285654|PMID:30561534|PMID:31489614|PMID:3284607|PMID:33875558|PMID:35505348 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:11064442|PMID:21549341 20170420 RGD DNA:mutations: : 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:1358512|PMID:11791207 19990101 RGD 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17046213|PMID:17453415|PMID:17576681|PMID:17988881|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:22883287|PMID:24102492|PMID:24215330|PMID:25359263|PMID:25401298|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:31741823|PMID:32171521|PMID:33024953|PMID:34597687|PMID:35505348|PMID:9536098 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320202 D RGD:1358512|PMID:11791207 20150219 RGD 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:1826 epilepsy ISO RGD:1320201 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:19135028|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30561534 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:2717 Bloom syndrome ISO RGD:1320201 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:630 genetic disease ISO RGD:1320201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:17576681|PMID:18811591|PMID:19135028|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26206375|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31489614|PMID:35505348|PMID:9536098 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320201 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9000343 Vision Disorders ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9001981 Weight Loss ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320201 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9004462 Atrophy ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9005372 Inflammation ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9006205 Animal Disease Models ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9006534 Nervous System Malformations ISO RGD:1320201 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9256 colorectal cancer ISO RGD:1320201 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309714 Cln6 CLN6, transmembrane ER protein gene DOID:9923 developmental coordination disorder ISO RGD:1320201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 1309715 Cbln2 cerebellin 2 precursor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320203 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1309715 Cbln2 cerebellin 2 precursor gene DOID:630 genetic disease ISO RGD:1320203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309715 Cbln2 cerebellin 2 precursor gene DOID:6420 pulmonary valve stenosis ISO RGD:1320203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1309715 Cbln2 cerebellin 2 precursor gene DOID:6432 pulmonary hypertension ISO RGD:1320203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23502781 1309715 Cbln2 cerebellin 2 precursor gene DOID:8445 intestinal volvulus ISO RGD:1320203 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1309715 Cbln2 cerebellin 2 precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320203 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309715 Cbln2 cerebellin 2 precursor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320203 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1309716 Ndfip2 Nedd4 family interacting protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320205 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309716 Ndfip2 Nedd4 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309717 Ift88 intraflagellar transport 88 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1320207 D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 1309717 Ift88 intraflagellar transport 88 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 1309717 Ift88 intraflagellar transport 88 gene DOID:0110253 cataract 14 multiple types ISO RGD:1320207 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1320207 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1320207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8191288|PMID:8608416 1309717 Ift88 intraflagellar transport 88 gene DOID:10325 silicosis IEP D RGD:155791682|PMID:32042332 20230105 RGD protein:decreased expression:lung 1309717 Ift88 intraflagellar transport 88 gene DOID:1148 polydactyly ISO RGD:1320207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12701101 1309717 Ift88 intraflagellar transport 88 gene DOID:12858 Huntington's disease ISO RGD:1551338 D RGD:13432581|PMID:25989602 20171002 RGD protein:altered localization:cilia 1309717 Ift88 intraflagellar transport 88 gene DOID:14693 Clouston syndrome ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:2121 ectodermal dysplasia ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:61 mitral valve disease ISS RGD:1551338 D RGD:13592920 20210715 MouseDO 1309717 Ift88 intraflagellar transport 88 gene DOID:630 genetic disease ISO RGD:1320207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309717 Ift88 intraflagellar transport 88 gene DOID:9007188 Liver Neoplasms ISO RGD:1320207 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 1309717 Ift88 intraflagellar transport 88 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320207 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1309718 Specc1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606479 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1309718 Specc1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1606479 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309718 Specc1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:2661 myoepithelioma ISO RGD:1606479 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1309718 Specc1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1606479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309718 Specc1 sperm antigen with calponin homology and coiled-coil domains 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1309719 Coro2a coronin 2A gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1309719 Coro2a coronin 2A gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1309719 Coro2a coronin 2A gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1309719 Coro2a coronin 2A gene DOID:1059 intellectual disability ISO RGD:1320210 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309719 Coro2a coronin 2A gene DOID:12712 nephronophthisis ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1309719 Coro2a coronin 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1309719 Coro2a coronin 2A gene DOID:2661 myoepithelioma ISO RGD:1320210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1309719 Coro2a coronin 2A gene DOID:630 genetic disease ISO RGD:1320210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309719 Coro2a coronin 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:1320210 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1309720 Depdc7 DEP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1602447 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309720 Depdc7 DEP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1602447 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autism 1309720 Depdc7 DEP domain containing 7 gene DOID:630 genetic disease ISO RGD:1602447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309720 Depdc7 DEP domain containing 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309721 Abhd14a abhydrolase domain containing 14A gene DOID:630 genetic disease ISO RGD:1601874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309724 Lipk lipase, family member K gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 1309724 Lipk lipase, family member K gene DOID:630 genetic disease ISO RGD:1320217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISS RGD:1320220 D RGD:13592920 20210930 MouseDO 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:11590124|PMID:14517516|PMID:17374501|PMID:17999356|PMID:18227065|PMID:21932095|PMID:25741868|PMID:26453363|PMID:27246109|PMID:28492532|PMID:9839948|PMID:9973285 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:1059 intellectual disability ISO RGD:1320219 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320219 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1320219 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320219 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1309725 Dvl2 dishevelled segment polarity protein 2 gene DOID:630 genetic disease ISO RGD:1320219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1320221 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1320221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1320221 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1309726 Abhd16b abhydrolase domain containing 16B gene DOID:630 genetic disease ISO RGD:1320221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1320222 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1320222 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1320222 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1320222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1320222 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309727 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309728 Cbr3 carbonyl reductase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1320224 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1309728 Cbr3 carbonyl reductase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1309728 Cbr3 carbonyl reductase 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1309728 Cbr3 carbonyl reductase 3 gene DOID:630 genetic disease ISO RGD:1320224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309728 Cbr3 carbonyl reductase 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320224 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 1309728 Cbr3 carbonyl reductase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320224 D RGD:2316291|PMID:19088887 20100204 RGD mRNA:decreased expression:oral squamous cell carcinoma (human) 1309729 Fastkd3 FAST kinase domains 3 gene DOID:630 genetic disease ISO RGD:1604298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309730 Iftap intraflagellar transport associated protein gene DOID:0080600 COVID-19 ISO RGD:1603277 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309730 Iftap intraflagellar transport associated protein gene DOID:0080915 histiocytic sarcoma ISO RGD:1603277 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis 1309730 Iftap intraflagellar transport associated protein gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1603277 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1309730 Iftap intraflagellar transport associated protein gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1603277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:11133745|PMID:24290284|PMID:25739914|PMID:28492532|PMID:8810255 1309730 Iftap intraflagellar transport associated protein gene DOID:1059 intellectual disability ISO RGD:1603277 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309731 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309731 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:7240710 20221102 OMIM 1309731 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder PMID:25741868|PMID:36067766 1309731 Mtss2 MTSS I-BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309731 Mtss2 MTSS I-BAR domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603934 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1309732 Matn4 matrilin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1309732 Matn4 matrilin 4 gene DOID:2234 focal epilepsy ISO RGD:1320229 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309732 Matn4 matrilin 4 gene DOID:4621 holoprosencephaly ISO RGD:1320229 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25558065 1309732 Matn4 matrilin 4 gene DOID:630 genetic disease ISO RGD:1320229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309732 Matn4 matrilin 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1309732 Matn4 matrilin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320229 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1309732 Matn4 matrilin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320229 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1309733 Cd300lf Cd300 molecule-like family member F gene DOID:630 genetic disease ISO RGD:1603897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309735 Lamtor4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604690 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309735 Lamtor4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:630 genetic disease ISO RGD:1604690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1320234 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:1059 intellectual disability ISO RGD:1320234 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:11476 osteoporosis ISO RGD:1320234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:12858 Huntington's disease ISS RGD:1320235 D RGD:13592920 20180518 MouseDO OMIM:143100 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:630 genetic disease ISO RGD:1320234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9120 amyloidosis ISO RGD:1320234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 1309736 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:987 alopecia ISO RGD:1320234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 1309737 Tbrg4 transforming growth factor beta regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320236 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309737 Tbrg4 transforming growth factor beta regulator 4 gene DOID:630 genetic disease ISO RGD:1320236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309738 Caskin2 cask-interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309739 Foxr1 forkhead box R1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309739 Foxr1 forkhead box R1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1309739 Foxr1 forkhead box R1 gene DOID:0080690 RASopathy ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1309739 Foxr1 forkhead box R1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1320240 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1309739 Foxr1 forkhead box R1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1320240 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1309739 Foxr1 forkhead box R1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309739 Foxr1 forkhead box R1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309739 Foxr1 forkhead box R1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309739 Foxr1 forkhead box R1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1309739 Foxr1 forkhead box R1 gene DOID:630 genetic disease ISO RGD:1320240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309739 Foxr1 forkhead box R1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320240 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309739 Foxr1 forkhead box R1 gene DOID:9007661 Dwarfism ISO RGD:1320240 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320241 D RGD:155663375|PMID:35301145 20221114 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320242 D RGD:155663358|PMID:22252294 20221111 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1320242 D RGD:155641249|PMID:20508179 20221104 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1320241 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1320241 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:26299364|PMID:29924900 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1320242 D RGD:155663357|PMID:33899511 20221111 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:0080322 polycystic kidney disease treatment IEP D RGD:155791442|PMID:32685025 20221216 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:13025 retinopathy of prematurity treatment IEP D RGD:155663485|PMID:30652694 20221117 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1320241 D RGD:155641260|PMID:20167860 20221107 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1320242 D RGD:155641244|PMID:22699504 20221103 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis treatment ISO RGD:1320242 D RGD:155663380|PMID:30909142 20221115 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1320242 D RGD:155663354|PMID:31927543 20221111 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia disease_progression IEP D RGD:155663383|PMID:30653356 20221115 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155663419|PMID:30258350 20221116 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:264 hemangiopericytoma ISO RGD:1320241 D RGD:155663351|PMID:26951238 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:2717 Bloom syndrome ISO RGD:1320241 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:3021 acute kidney failure ameliorates ISO RGD:1320242 D RGD:155663373|PMID:19828677 20221114 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:3070 high grade glioma ameliorates ISO RGD:1320242 D RGD:155791441|PMID:17183313 20221216 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:326 ischemia IEP D RGD:155663350|PMID:25834117 20221110 RGD mRNA,protein:increased expression:skin,endothelial cells 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ameliorates ISO RGD:1320242 D RGD:155663358|PMID:22252294 20221111 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:3910 lung adenocarcinoma treatment IEP D RGD:155663482|PMID:33628824 20221117 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:4450 renal cell carcinoma treatment ISO RGD:1320241 D RGD:155663382|PMID:25618828 20221115 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:4556 lung large cell carcinoma treatment IEP D RGD:155663482|PMID:33628824 20221117 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:5241 hemangioblastoma ISO RGD:1320241 D RGD:155641257|PMID:27388534 20221107 RGD mRNA,protein:increased expression:temporal lobe : 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:5409 lung small cell carcinoma treatment IEP D RGD:155663482|PMID:33628824 20221117 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:630 genetic disease ISO RGD:1320241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:6406 double outlet right ventricle susceptibility ISO RGD:1320242 D RGD:155663381|PMID:34859965 20221115 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:6432 pulmonary hypertension ISO RGD:1320242 D RGD:155646132|PMID:34739767 20221108 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:799 varicose veins ISO RGD:1320241 D RGD:11529441|PMID:26808710 20221107 RGD mRNA,protein:increased expression:vein: 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy ISO RGD:1320242 D RGD:155663348|PMID:30787185 20221110 RGD mRNA,protein:increased expression:retina: 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy severity ISO RGD:1320241 D RGD:155663356|PMID:34362349 20221111 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1320242 D RGD:155641244|PMID:22699504 20221103 RGD protein:increased expression:aorta 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9000713 Surgical Wound treatment IEP D RGD:155641256|PMID:34256844 20221107 RGD associated with type 1 diabetes mellitus; 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1320241 D RGD:155646133|PMID:23870033 20221108 RGD mRNA:decreased expression:liver 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9001044 Choroidal Neovascularization treatment IEP D RGD:12859045|PMID:21063852 20221130 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9001919 Vascular Neoplasms IMP D RGD:155641259|PMID:20147986 20221107 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1320242 D RGD:155663662|PMID:21813770 20221201 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment IEP D RGD:155663663|PMID:26670826 20221201 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:155663361|PMID:24219762 20221111 RGD protein:increased expression:intestine: 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:155663363|PMID:21955427 20221111 RGD protein:increased expression:serum: 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1320242 D RGD:155663352|PMID:23188126 20221111 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9004397 calcification of aortic valve ameliorates ISO RGD:1320242 D RGD:155641244|PMID:22699504 20221103 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:7240710 20180103 OMIM 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 6 PMID:25741868|PMID:26299364|PMID:28492532|PMID:29924900|PMID:32860008|PMID:616589 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression IEP D RGD:155791448|PMID:31209505 20221219 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment IEP D RGD:155663484|PMID:21526177 20221117 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:155641250|PMID:32089723 20221104 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9007730 Burns treatment IEP D RGD:155663481|PMID:28319529 20221117 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9008022 Temporomandibular Joint Osteoarthritis disease_progression IEP D RGD:155791443|PMID:28147322 20221216 RGD 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1320241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9256 colorectal cancer ISO RGD:1320241 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus IEP D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin: 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1320242 D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin: 1309740 Dll4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:1320242 D RGD:155663360|PMID:29386132 20221111 RGD 1309741 Olfm2 olfactomedin 2 gene DOID:12849 autistic disorder ISO RGD:1320243 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309741 Olfm2 olfactomedin 2 gene DOID:630 genetic disease ISO RGD:1320243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309742 Arhgap23 Rho GTPase activating protein 23 gene DOID:0080600 COVID-19 ISO RGD:1320244 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309742 Arhgap23 Rho GTPase activating protein 23 gene DOID:11612 polycystic ovary syndrome ISO RGD:1320244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309742 Arhgap23 Rho GTPase activating protein 23 gene DOID:630 genetic disease ISO RGD:1320244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309744 Tmem127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma ISO RGD:1601991 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20154675 1309744 Tmem127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:30113886|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:1601991 D RGD:7240710 20230505 OMIM 1309744 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532|PMID:32575117 1309744 Tmem127 transmembrane protein 127 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:1059 intellectual disability ISO RGD:1601991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309744 Tmem127 transmembrane protein 127 gene DOID:1752 ocular melanoma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intraocular melanoma PMID:25741868|PMID:28492532 1309744 Tmem127 transmembrane protein 127 gene DOID:2394 ovarian cancer ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1309744 Tmem127 transmembrane protein 127 gene DOID:5419 schizophrenia ISO RGD:1601991 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309744 Tmem127 transmembrane protein 127 gene DOID:6039 uveal melanoma ISO RGD:1601991 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:28492532 1309744 Tmem127 transmembrane protein 127 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:30113886|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659 1309744 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338 1309744 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 1309744 Tmem127 transmembrane protein 127 gene DOID:9119 acute myeloid leukemia ISO RGD:1601991 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20923864|PMID:25741868|PMID:28492532 1309746 Zfp638 zinc finger protein 638 gene DOID:543 dystonia ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309746 Zfp638 zinc finger protein 638 gene DOID:630 genetic disease ISO RGD:1349975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309746 Zfp638 zinc finger protein 638 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309747 Ice1 interactor of little elongation complex ELL subunit 1 gene DOID:630 genetic disease ISO RGD:2311267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309748 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1606021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 1309748 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1309748 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1309748 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:5812 MHC class II deficiency ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309749 Trim16 tripartite motif-containing 16 gene DOID:630 genetic disease ISO RGD:1348776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309749 Trim16 tripartite motif-containing 16 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348776 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 1309750 Myo1f myosin IF gene DOID:0080490 mucolipidosis type IV ISO RGD:1320254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1309750 Myo1f myosin IF gene DOID:10003 sensorineural hearing loss ISO RGD:1320254 D RGD:8554872 20170228 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 1309750 Myo1f myosin IF gene DOID:12849 autistic disorder ISO RGD:1320254 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309750 Myo1f myosin IF gene DOID:630 genetic disease ISO RGD:1320254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309750 Myo1f myosin IF gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309751 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:9536098 1309751 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 1309751 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 1309751 Tfg trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:7240710 20150225 OMIM 1309751 Tfg trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345 1309751 Tfg trafficking from ER to golgi regulator gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1320255 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 1309751 Tfg trafficking from ER to golgi regulator gene DOID:630 genetic disease ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 1309751 Tfg trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:7240710 20150225 OMIM 1309751 Tfg trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 1309752 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1605824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309752 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1605824 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1309752 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605824 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309752 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1605824 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1309753 Vamp4 vesicle-associated membrane protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320258 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309753 Vamp4 vesicle-associated membrane protein 4 gene DOID:630 genetic disease ISO RGD:1320258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309753 Vamp4 vesicle-associated membrane protein 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1309753 Vamp4 vesicle-associated membrane protein 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320258 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1309753 Vamp4 vesicle-associated membrane protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320258 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309754 Vps36 vacuolar protein sorting 36 homolog gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320260 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1309754 Vps36 vacuolar protein sorting 36 homolog gene DOID:1059 intellectual disability ISO RGD:1320260 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309754 Vps36 vacuolar protein sorting 36 homolog gene DOID:630 genetic disease ISO RGD:1320260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309756 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1309756 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1309756 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1309756 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1320262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1309756 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:630 genetic disease ISO RGD:1320262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309757 Cd72 Cd72 molecule gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:0080942 anauxetic dysplasia ISO RGD:1320264 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1320264 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:630 genetic disease ISO RGD:1320264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309757 Cd72 Cd72 molecule gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1320264 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309757 Cd72 Cd72 molecule gene DOID:9870 galactosemia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1309758 Exosc7 exosome component 7 gene DOID:630 genetic disease ISO RGD:1320266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309759 Ginm1 glycosylated integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1320268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309761 Traip TRAF-interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1309761 Traip TRAF-interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:7240710 20190315 OMIM 1309761 Traip TRAF-interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 9 PMID:25741868|PMID:26595769|PMID:28492532|PMID:31974414 1309761 Traip TRAF-interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1309761 Traip TRAF-interacting protein gene DOID:10907 microcephaly ISO RGD:1601884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 1309761 Traip TRAF-interacting protein gene DOID:630 genetic disease ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309761 Traip TRAF-interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1601884 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309761 Traip TRAF-interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601884 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1309761 Traip TRAF-interacting protein gene DOID:9007661 Dwarfism ISO RGD:1601884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 1309761 Traip TRAF-interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1606926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1606926 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:3393 coronary artery disease ISO RGD:1606926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1606926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:7240710 20230505 OMIM 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum PMID:36401616 1309762 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606926 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 1309763 Snx4 sorting nexin 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1309763 Snx4 sorting nexin 4 gene DOID:630 genetic disease ISO RGD:1320273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309763 Snx4 sorting nexin 4 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 1309763 Snx4 sorting nexin 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320273 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1309763 Snx4 sorting nexin 4 gene DOID:9270 alkaptonuria ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:0080600 COVID-19 ISO RGD:1346444 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:12849 autistic disorder ISO RGD:1346444 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1346444 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:3307 teratoma ISO RGD:1346444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:630 genetic disease ISO RGD:1346444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1309764 Slc45a3 solute carrier family 45, member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346444 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:7240710 20140911 OMIM 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 PMID:16199547|PMID:17576681|PMID:23830518|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26322222|PMID:26467025|PMID:26912795|PMID:27707803|PMID:27862579|PMID:28327206|PMID:28482373|PMID:28492532|PMID:29158550|PMID:29855340|PMID:30105108|PMID:31575891|PMID:9536098 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:1059 intellectual disability ISO RGD:1604800 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:28492532 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1604800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23830518|PMID:24033266|PMID:26322222|PMID:27707803|PMID:28492532|PMID:30105108 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:423 myopathy ISO RGD:1604800 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Myopathy 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:630 genetic disease ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:9007661 Dwarfism ISO RGD:1604800 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 1309765 Trappc11 trafficking protein particle complex subunit 11 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:17576681|PMID:23830518|PMID:25741868|PMID:28492532|PMID:29158550|PMID:31575891|PMID:9536098 1309766 Rmnd5a required for meiotic nuclear division 5 homolog A gene DOID:630 genetic disease ISO RGD:1604311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309766 Rmnd5a required for meiotic nuclear division 5 homolog A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1604311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 1309767 Man1a2 mannosidase, alpha, class 1A, member 2 gene DOID:630 genetic disease ISO RGD:1320278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309768 Ahcyl1 adenosylhomocysteinase-like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1309768 Ahcyl1 adenosylhomocysteinase-like 1 gene DOID:12849 autistic disorder ISO RGD:1320280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309768 Ahcyl1 adenosylhomocysteinase-like 1 gene DOID:630 genetic disease ISO RGD:1320280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309769 Bbx BBX high mobility group box domain containing gene DOID:630 genetic disease ISO RGD:1320282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309770 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320284 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1309770 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 gene DOID:5419 schizophrenia ISO RGD:1320284 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309770 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 gene DOID:630 genetic disease ISO RGD:1320284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309770 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320284 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309770 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320284 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309770 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 gene DOID:9007661 Dwarfism ISO RGD:1320284 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309771 Rpl27a ribosomal protein L27A gene DOID:0050753 cerebellar ataxia ISO RGD:1320286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 1309771 Rpl27a ribosomal protein L27A gene DOID:12450 pancytopenia ISO RGD:1320286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 1309771 Rpl27a ribosomal protein L27A gene DOID:3910 lung adenocarcinoma ISO RGD:1320286 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1309771 Rpl27a ribosomal protein L27A gene DOID:630 genetic disease ISO RGD:1320286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309771 Rpl27a ribosomal protein L27A gene DOID:9003984 Hyperpigmentation ISO RGD:1320286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 1309771 Rpl27a ribosomal protein L27A gene DOID:9006205 Animal Disease Models ISO RGD:1320286 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1309772 Api5 apoptosis inhibitor 5 gene DOID:1059 intellectual disability ISO RGD:1320288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309772 Api5 apoptosis inhibitor 5 gene DOID:4362 cervical cancer disease_progression ISO RGD:1320288 D RGD:1643340|PMID:10780674 20071231 RGD mRNA:increased expression 1309772 Api5 apoptosis inhibitor 5 gene DOID:630 genetic disease ISO RGD:1320288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309773 Fbxl17 F-box and leucine-rich repeat protein 17 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309773 Fbxl17 F-box and leucine-rich repeat protein 17 gene DOID:630 genetic disease ISO RGD:1348950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309773 Fbxl17 F-box and leucine-rich repeat protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348950 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309773 Fbxl17 F-box and leucine-rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1309773 Fbxl17 F-box and leucine-rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309774 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1320291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1309774 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:630 genetic disease ISO RGD:1320291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309774 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:7240710 20191211 OMIM 1309774 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 PMID:25741868|PMID:28492532|PMID:31488579 1309775 Ganab glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:11352639|PMID:27259053 20191018 RGD DNA:mutations: : 1309775 Ganab glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:14975304|PMID:31462075 20191010 RGD DNA:mutations: 1309775 Ganab glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:33097077 1309775 Ganab glucosidase II alpha subunit gene DOID:0080322 polycystic kidney disease ISO RGD:1320293 D RGD:11352639|PMID:27259053 20191018 RGD DNA:mutations: : 1309775 Ganab glucosidase II alpha subunit gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 1309775 Ganab glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:7240710 20190315 OMIM 1309775 Ganab glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 PMID:25741868|PMID:27259053|PMID:28492532|PMID:33097077 1309775 Ganab glucosidase II alpha subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309775 Ganab glucosidase II alpha subunit gene DOID:1059 intellectual disability ISO RGD:1320293 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309775 Ganab glucosidase II alpha subunit gene DOID:630 genetic disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309775 Ganab glucosidase II alpha subunit gene DOID:784 chronic kidney disease ISO RGD:1320293 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1309775 Ganab glucosidase II alpha subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320293 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1309775 Ganab glucosidase II alpha subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320293 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 1309775 Ganab glucosidase II alpha subunit gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease PMID:25741868|PMID:28492532|PMID:33097077 1309775 Ganab glucosidase II alpha subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320293 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1309776 Il7r interleukin 7 receptor gene DOID:0080600 COVID-19 ISO RGD:1320295 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309776 Il7r interleukin 7 receptor gene DOID:0080915 histiocytic sarcoma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 1309776 Il7r interleukin 7 receptor gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:1320295 D RGD:11554173 20220712 CTD CTD Direct Evidence: marker/mechanism 1309776 Il7r interleukin 7 receptor gene DOID:10534 stomach cancer susceptibility ISO RGD:1320295 D RGD:151347690|PMID:18687755 20220201 RGD DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human) 1309776 Il7r interleukin 7 receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1320295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 1309776 Il7r interleukin 7 receptor gene DOID:219 colon cancer disease_progression ISO RGD:1320295 D RGD:126779581|PMID:29755661 20220201 RGD DNA:deletion: : 1309776 Il7r interleukin 7 receptor gene DOID:2377 multiple sclerosis ISO RGD:1320295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17660530|PMID:17660816|PMID:17660817|PMID:19525955 1309776 Il7r interleukin 7 receptor gene DOID:2377 multiple sclerosis ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 PMID:21664875|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:28436970|PMID:28492532|PMID:32576985|PMID:32765500 1309776 Il7r interleukin 7 receptor gene DOID:289 endometriosis ISO RGD:1320295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1309776 Il7r interleukin 7 receptor gene DOID:3525 middle cerebral artery infarction IEP D RGD:151347693|PMID:30676545 20220201 RGD protein:increased expression:brain: 1309776 Il7r interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320295 D RGD:151347686|PMID:21159243 20220201 RGD 1309776 Il7r interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320295 D RGD:4142793|PMID:19505916 20220201 RGD DNA:SNPs:: rs1494555,rs7737000(human) 1309776 Il7r interleukin 7 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1320295 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 1309776 Il7r interleukin 7 receptor gene DOID:627 severe combined immunodeficiency ISO RGD:1320295 D RGD:1600151|PMID:9843216 20070228 RGD autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 1309776 Il7r interleukin 7 receptor gene DOID:627 severe combined immunodeficiency ISO RGD:1320295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15661025|PMID:16492442|PMID:17827065|PMID:18255337|PMID:18403192|PMID:18641513|PMID:21664875|PMID:23810098|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27833609|PMID:28436970|PMID:28492532|PMID:30778343|PMID:32576985|PMID:32765500|PMID:33084842 1309776 Il7r interleukin 7 receptor gene DOID:630 genetic disease ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309776 Il7r interleukin 7 receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1320295 D RGD:151347688|PMID:26155428 20220201 RGD 1309776 Il7r interleukin 7 receptor gene DOID:8577 ulcerative colitis ISO RGD:1320295 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 1309776 Il7r interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:7240710 20220706 OMIM 1309776 Il7r interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10899029|PMID:11023514|PMID:15615257|PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18255337|PMID:18403192|PMID:18641513|PMID:20021794|PMID:21664875|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24728327|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27807805|PMID:27833609|PMID:28436970|PMID:28492532|PMID:28747913|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:32576985|PMID:32765500|PMID:32888943|PMID:35418989|PMID:9536098|PMID:9843216 1309776 Il7r interleukin 7 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309776 Il7r interleukin 7 receptor gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1320295 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:22897847|PMID:22955920 1309776 Il7r interleukin 7 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320295 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309776 Il7r interleukin 7 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 1309776 Il7r interleukin 7 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:1320295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 1309776 Il7r interleukin 7 receptor gene DOID:9538 multiple myeloma ISO RGD:1320295 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1309777 Pla2r1 phospholipase A2 receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868 1309777 Pla2r1 phospholipase A2 receptor 1 gene DOID:12849 autistic disorder ISO RGD:1350138 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1309777 Pla2r1 phospholipase A2 receptor 1 gene DOID:303 substance-related disorder ISO RGD:1350138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1309777 Pla2r1 phospholipase A2 receptor 1 gene DOID:557 kidney disease ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 1309777 Pla2r1 phospholipase A2 receptor 1 gene DOID:630 genetic disease ISO RGD:1350138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1309778 Snx13 sorting nexin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320299 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309778 Snx13 sorting nexin 13 gene DOID:630 genetic disease ISO RGD:1320299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309779 C8h15orf61 similar to human chromosome 15 open reading frame 61 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:2302457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1309779 C8h15orf61 similar to human chromosome 15 open reading frame 61 gene DOID:2717 Bloom syndrome ISO RGD:2302457 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309779 C8h15orf61 similar to human chromosome 15 open reading frame 61 gene DOID:630 genetic disease ISO RGD:2302457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309779 C8h15orf61 similar to human chromosome 15 open reading frame 61 gene DOID:9256 colorectal cancer ISO RGD:2302457 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309780 Car1 carbonic anhydrase 1 gene DOID:0050758 metabolic acidosis ISO RGD:1320302 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 1309780 Car1 carbonic anhydrase 1 gene DOID:10316 pneumoconiosis ISO RGD:1320302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1309780 Car1 carbonic anhydrase 1 gene DOID:299 adenocarcinoma ISO RGD:1320302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 1309780 Car1 carbonic anhydrase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320302 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1309780 Car1 carbonic anhydrase 1 gene DOID:630 genetic disease ISO RGD:1320302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309780 Car1 carbonic anhydrase 1 gene DOID:655 inherited metabolic disorder ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase I deficiency | ClinVar Annotator: match by term: Carbonic anhydrase I, Guam PMID:406674|PMID:6781336|PMID:827930 1309780 Car1 carbonic anhydrase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 1309781 Fbxo40 F-box protein 40 gene DOID:12849 autistic disorder ISO RGD:1320304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 1309781 Fbxo40 F-box protein 40 gene DOID:630 genetic disease ISO RGD:1320304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309781 Fbxo40 F-box protein 40 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320304 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1309781 Fbxo40 F-box protein 40 gene DOID:9270 alkaptonuria ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1309782 Eed embryonic ectoderm development gene DOID:0060041 autism spectrum disorder ISO RGD:1320306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1309782 Eed embryonic ectoderm development gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1320306 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1309782 Eed embryonic ectoderm development gene DOID:1059 intellectual disability ISO RGD:1320306 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309782 Eed embryonic ectoderm development gene DOID:224 transient cerebral ischemia IDA D RGD:9588303|PMID:24007266 20141024 RGD 1309782 Eed embryonic ectoderm development gene DOID:3192 neurilemmoma ISO RGD:1320306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1309782 Eed embryonic ectoderm development gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320306 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1309782 Eed embryonic ectoderm development gene DOID:630 genetic disease ISO RGD:1320306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1309782 Eed embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:7240710 20190315 OMIM 1309782 Eed embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cohen-Gibson syndrome PMID:17576681|PMID:25741868|PMID:27193220|PMID:27868325|PMID:28119537|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30858506|PMID:9536098 1309782 Eed embryonic ectoderm development gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1320306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 1309782 Eed embryonic ectoderm development gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320307 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 1309783 Potefam1 POTE ankyrin domain family member 1 gene DOID:630 genetic disease ISO RGD:1350593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309783 Potefam1 POTE ankyrin domain family member 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350593 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 1309784 Rsl24d1 ribosomal L24 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1320309 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309784 Rsl24d1 ribosomal L24 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309784 Rsl24d1 ribosomal L24 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1320309 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309786 Tprkb Tp53rk binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1309786 Tprkb Tp53rk binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:7240710 20190315 OMIM 1309786 Tprkb Tp53rk binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259 1309786 Tprkb Tp53rk binding protein gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1603050 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 1309786 Tprkb Tp53rk binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1603050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28805828|PMID:29127259 1309786 Tprkb Tp53rk binding protein gene DOID:543 dystonia ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309786 Tprkb Tp53rk binding protein gene DOID:630 genetic disease ISO RGD:1603050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309786 Tprkb Tp53rk binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309788 Tesmin testis expressed metallothionein like protein gene DOID:1059 intellectual disability ISO RGD:1320315 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309788 Tesmin testis expressed metallothionein like protein gene DOID:630 genetic disease ISO RGD:1320315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309788 Tesmin testis expressed metallothionein like protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1309788 Tesmin testis expressed metallothionein like protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1309789 Zswim3 zinc finger, SWIM-type containing 3 gene DOID:2234 focal epilepsy ISO RGD:1320317 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1309789 Zswim3 zinc finger, SWIM-type containing 3 gene DOID:630 genetic disease ISO RGD:1320317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309789 Zswim3 zinc finger, SWIM-type containing 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:7240710 20140911 OMIM 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:16199547|PMID:17576681|PMID:24814191|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31175295|PMID:31785789|PMID:9536098 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1352133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:28492532|PMID:32041611 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1352133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:25741868 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:1059 intellectual disability ISO RGD:1352133 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:1826 epilepsy ISO RGD:1352133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:2223 platelet storage pool deficiency ISS RGD:1320319 D RGD:13592920 20180518 MouseDO OMIM:185050 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:630 genetic disease ISO RGD:1352133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32041611|PMID:9536098 1309790 Dock7 dedicator of cytokinesis 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309791 Sh2d7 SH2 domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2923266 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309791 Sh2d7 SH2 domain containing 7 gene DOID:630 genetic disease ISO RGD:2923266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309791 Sh2d7 SH2 domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2923266 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309792 Klhdc10 kelch domain containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602130 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309792 Klhdc10 kelch domain containing 10 gene DOID:630 genetic disease ISO RGD:1602130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309792 Klhdc10 kelch domain containing 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1602130 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1309793 Det1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:2717 Bloom syndrome ISO RGD:1348990 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309793 Det1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1348990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309793 Det1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:9256 colorectal cancer ISO RGD:1348990 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309795 Polq DNA polymerase theta gene DOID:0080600 COVID-19 ISO RGD:1320324 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309795 Polq DNA polymerase theta gene DOID:3307 teratoma ISO RGD:1320324 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1309795 Polq DNA polymerase theta gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320324 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 1309795 Polq DNA polymerase theta gene DOID:630 genetic disease ISO RGD:1320324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309795 Polq DNA polymerase theta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320324 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1309795 Polq DNA polymerase theta gene DOID:9270 alkaptonuria ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1309796 Dmrta1 DMRT-like family A1 gene DOID:5419 schizophrenia ISO RGD:1320325 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309796 Dmrta1 DMRT-like family A1 gene DOID:630 genetic disease ISO RGD:1320325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309797 Hoxd12 homeo box D12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320327 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1309797 Hoxd12 homeo box D12 gene DOID:11836 clubfoot ISO RGD:1320327 D RGD:12743594|PMID:16331564 20170208 RGD DNA:SNP:5' utr:rs847154 (human) 1309797 Hoxd12 homeo box D12 gene DOID:1909 melanoma ISO RGD:1320327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1309797 Hoxd12 homeo box D12 gene DOID:630 genetic disease ISO RGD:1320327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309797 Hoxd12 homeo box D12 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8620844|PMID:19108020 1309799 Hdac1 histone deacetylase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320330 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 1309799 Hdac1 histone deacetylase 1 gene DOID:114 heart disease ISO RGD:1320330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 1309799 Hdac1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:10402189|PMID:22965876 20151019 RGD mRNA:increased expression:cerebral cortex 1309799 Hdac1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9590098|PMID:22918830 20141112 RGD protein:increased expression:striatum: 1309799 Hdac1 histone deacetylase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1320330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 1309799 Hdac1 histone deacetylase 1 gene DOID:1686 glaucoma IEP D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (rat) 1309799 Hdac1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1320330 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 1309799 Hdac1 histone deacetylase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 1309799 Hdac1 histone deacetylase 1 gene DOID:2377 multiple sclerosis ISO RGD:1320330 D RGD:9590131|PMID:20037577 20141113 RGD protein:increased expression:cytoplasm: 1309799 Hdac1 histone deacetylase 1 gene DOID:289 endometriosis ISO RGD:1320330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1309799 Hdac1 histone deacetylase 1 gene DOID:3213 demyelinating disease ISO RGD:1320331 D RGD:9590131|PMID:20037577 20141113 RGD protein:increased expression:cytoplasm: 1309799 Hdac1 histone deacetylase 1 gene DOID:3459 breast carcinoma ISO RGD:1320330 D RGD:2306216|PMID:16172792 20090325 RGD 1309799 Hdac1 histone deacetylase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1320330 D RGD:9588974|PMID:19424621 20141105 RGD protein:increased expression:pancreas 1309799 Hdac1 histone deacetylase 1 gene DOID:630 genetic disease ISO RGD:1320330 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309799 Hdac1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:lung: 1309799 Hdac1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1320330 D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:lung: 1309799 Hdac1 histone deacetylase 1 gene DOID:680 tauopathy ISO RGD:1320331 D RGD:9590098|PMID:22918830 20141112 RGD protein:increased expression:brain: 1309799 Hdac1 histone deacetylase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320330 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:32289289 1309799 Hdac1 histone deacetylase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1320330 D RGD:2306219|PMID:15042618 20090326 RGD protein:increased expression:prostate gland 1309799 Hdac1 histone deacetylase 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1320330 D RGD:2306200|PMID:19147762 20090325 RGD protein:increased expression:uterine cervix 1309799 Hdac1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation IDA D RGD:2311214|PMID:18464933 20140917 RGD 1309799 Hdac1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9588242|PMID:16380407 20141023 RGD protein:decreased expression, decreased activity:hippocampus: 1309799 Hdac1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9590296|PMID:24717552 20141124 RGD mRNA:increased expression:adrenal gland: 1309799 Hdac1 histone deacetylase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320330 D RGD:2306214|PMID:18212746 20090325 RGD protein:increased expression:prostate gland 1309799 Hdac1 histone deacetylase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320330 D RGD:2306219|PMID:15042618 20090326 RGD protein:increased expression:prostate gland 1309799 Hdac1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320330 D RGD:2306215|PMID:17387270 20090325 RGD protein:increased expression:ovary 1309799 Hdac1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1320330 D RGD:2306205|PMID:18714364 20090325 RGD 1309799 Hdac1 histone deacetylase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1320330 D RGD:2306200|PMID:19147762 20090325 RGD protein:increased expression:uterine cervix 1309799 Hdac1 histone deacetylase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1320330 D RGD:9588974|PMID:19424621 20141105 RGD protein:increased expression:pancreas 1309799 Hdac1 histone deacetylase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9590229|PMID:19553350 20141120 RGD protein:increased activity:renal cortex: 1309799 Hdac1 histone deacetylase 1 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:Right Ventricular: 1309799 Hdac1 histone deacetylase 1 gene DOID:9007096 Stroke IEP D RGD:9590303|PMID:24657831 20141124 RGD 1309799 Hdac1 histone deacetylase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1320330 D RGD:2306205|PMID:18714364 20090325 RGD 1309799 Hdac1 histone deacetylase 1 gene DOID:9256 colorectal cancer ISO RGD:1320330 D RGD:9590193|PMID:23724067 20141119 RGD mRNA:increased expression:colon: 1309799 Hdac1 histone deacetylase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320331 D RGD:9590229|PMID:19553350 20141120 RGD protein:increased activity:kidney: 1309799 Hdac1 histone deacetylase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1320330 D RGD:9590127|PMID:22772764 20141113 RGD protein:increased expression:pancreatic beta cell: 1309799 Hdac1 histone deacetylase 1 gene DOID:986 alopecia areata ISO RGD:1320330 D RGD:9587460|PMID:21936853 20141112 RGD mRNA:increased expression:mononuclear cell: 1309799 Hdac1 histone deacetylase 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1320330 D RGD:9681454|PMID:23948281 20141202 RGD mRNA:increased expression:bone marrow,blood: 1309801 Baz2b bromodomain adjacent to zinc finger domain, 2B gene DOID:12849 autistic disorder ISO RGD:1320334 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1309801 Baz2b bromodomain adjacent to zinc finger domain, 2B gene DOID:630 genetic disease ISO RGD:1320334 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309801 Baz2b bromodomain adjacent to zinc finger domain, 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320334 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31999386 1309802 Exo5 exonuclease 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601975 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309802 Exo5 exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:0050851 glomerulosclerosis IEP D RGD:7327155|PMID:24022426 20130912 RGD 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:1063 interstitial nephritis IEP D RGD:7327155|PMID:24022426 20130912 RGD 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:7327172|PMID:21964580 20130913 RGD associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human) 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:7327173|PMID:21617193 20130913 RGD associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human) 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320338 D RGD:7327174|PMID:21178975 20130913 RGD 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:10825 essential hypertension ISO RGD:1320337 D RGD:7327177|PMID:17216203 20130913 RGD DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human) 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:6000 congestive heart failure IEP D RGD:7327162|PMID:21297953 20130913 RGD 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:630 genetic disease ISO RGD:1320337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:783 end stage renal disease ISO RGD:1320337 D RGD:7327153|PMID:15841207 20130912 RGD protein:decreased expression:plasma: 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:783 end stage renal disease ISO RGD:1320337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:784 chronic kidney disease IEP D RGD:7327164|PMID:18299506 20130913 RGD protein, activity:decreased expression:plasma, heart, kidney: 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320337 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320337 D RGD:7327166|PMID:23393318 20130913 RGD 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320338 D RGD:7327166|PMID:23393318 20130913 RGD mRNA,protein:decreased expression:kidney,plasma: 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:9007096 Stroke ISO RGD:1320337 D RGD:7327172|PMID:21964580 20130913 RGD DNA:SNP: : rs10887800 (human) 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320337 D RGD:7327174|PMID:21178975 20130913 RGD 1309804 Rnls renalase, FAD-dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320338 D RGD:7327174|PMID:21178975 20130913 RGD 1309807 Fam13a family with sequence similarity 13, member A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1320343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 1309807 Fam13a family with sequence similarity 13, member A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1320343 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1309807 Fam13a family with sequence similarity 13, member A gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1320343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:25741868 1309807 Fam13a family with sequence similarity 13, member A gene DOID:1749 squamous cell carcinoma ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1309807 Fam13a family with sequence similarity 13, member A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1320343 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20173748|PMID:28166215 1309807 Fam13a family with sequence similarity 13, member A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1320343 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 1309807 Fam13a family with sequence similarity 13, member A gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1320343 D RGD:11552597|PMID:25928290 20161012 RGD DNA:SNP: :rs7671167 (human) 1309807 Fam13a family with sequence similarity 13, member A gene DOID:3770 pulmonary fibrosis ISO RGD:1320343 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 1309807 Fam13a family with sequence similarity 13, member A gene DOID:630 genetic disease ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27993330 1309807 Fam13a family with sequence similarity 13, member A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320343 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1309809 Pih1d1 PIH1 domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1605995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1309809 Pih1d1 PIH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309810 Zfp606 zinc finger protein 606 gene DOID:303 substance-related disorder ISO RGD:1320347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1309810 Zfp606 zinc finger protein 606 gene DOID:630 genetic disease ISO RGD:1320347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309811 Marveld1 MARVEL domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1353944 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309811 Marveld1 MARVEL domain containing 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1353944 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:31205918 1309811 Marveld1 MARVEL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309812 Ptpn20 protein tyrosine phosphatase, non-receptor type 20 gene DOID:5419 schizophrenia ISO RGD:1353047 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309812 Ptpn20 protein tyrosine phosphatase, non-receptor type 20 gene DOID:630 genetic disease ISO RGD:1353047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309815 Zfp84 zinc finger protein 84 gene DOID:5419 schizophrenia ISO RGD:1344264 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1309815 Zfp84 zinc finger protein 84 gene DOID:630 genetic disease ISO RGD:1344264 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309817 Tmem11 transmembrane protein 11 gene DOID:630 genetic disease ISO RGD:1320357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:7240710 20190315 OMIM 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:1059 intellectual disability ISO RGD:1320359 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:10652 Alzheimer's disease ISO RGD:1320359 D RGD:11572212|PMID:26943237 20181102 RGD mRNA:increased expression:blood 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:630 genetic disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30245030|PMID:30847515 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30245030|PMID:30847515 1309818 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1320359 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1309820 Hells helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:7240710 20190315 OMIM 1309820 Hells helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 1309820 Hells helicase, lymphoid specific gene DOID:11612 polycystic ovary syndrome ISO RGD:1346644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309820 Hells helicase, lymphoid specific gene DOID:3070 high grade glioma severity ISO RGD:1346644 D RGD:13702468|PMID:28042322 20180718 RGD 1309820 Hells helicase, lymphoid specific gene DOID:3910 lung adenocarcinoma ISO RGD:1346644 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1309820 Hells helicase, lymphoid specific gene DOID:630 genetic disease ISO RGD:1346644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309820 Hells helicase, lymphoid specific gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309820 Hells helicase, lymphoid specific gene DOID:9002644 Premature Aging ISO RGD:1616865 D RGD:10402190|PMID:15105378 20151019 RGD 1309820 Hells helicase, lymphoid specific gene DOID:9006205 Animal Disease Models ISO RGD:1346644 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1309821 Myorg myogenesis regulating glycosidase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1309821 Myorg myogenesis regulating glycosidase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1309821 Myorg myogenesis regulating glycosidase gene DOID:0080942 anauxetic dysplasia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1309821 Myorg myogenesis regulating glycosidase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1309821 Myorg myogenesis regulating glycosidase gene DOID:630 genetic disease ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515 1309821 Myorg myogenesis regulating glycosidase gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:7240710 20190315 OMIM 1309821 Myorg myogenesis regulating glycosidase gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:30656188|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515 1309821 Myorg myogenesis regulating glycosidase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1309821 Myorg myogenesis regulating glycosidase gene DOID:9870 galactosemia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1309823 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1309823 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 1309823 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606229 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309823 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1309823 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1606229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309824 Tecta tectorin alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:1320369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11087000|PMID:12746400|PMID:16718611|PMID:17431902|PMID:21520338|PMID:24033266|PMID:24130743|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:28946916|PMID:30311386|PMID:30935366|PMID:31163360|PMID:31554319|PMID:33297549|PMID:34795337 1309824 Tecta tectorin alpha gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320369 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 1309824 Tecta tectorin alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1309824 Tecta tectorin alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1309824 Tecta tectorin alpha gene DOID:0080690 RASopathy ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1309824 Tecta tectorin alpha gene DOID:0110479 autosomal recessive nonsyndromic deafness 21 ISO RGD:1320369 D RGD:7240710 20130221 OMIM 1309824 Tecta tectorin alpha gene DOID:0110479 autosomal recessive nonsyndromic deafness 21 ISO RGD:1320369 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 PMID:11087000|PMID:12746400|PMID:17431902|PMID:17576681|PMID:17661817|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:22980975|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27627659|PMID:28000701|PMID:28492532|PMID:29196752|PMID:30303587|PMID:30311386|PMID:31163360|PMID:31554319|PMID:32747562|PMID:32853555|PMID:34008892|PMID:35802133|PMID:36633841|PMID:9536098|PMID:9949200 1309824 Tecta tectorin alpha gene DOID:0110544 autosomal dominant nonsyndromic deafness 12 ISO RGD:1320369 D RGD:7240710 20130221 OMIM 1309824 Tecta tectorin alpha gene DOID:0110544 autosomal dominant nonsyndromic deafness 12 ISO RGD:1320369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 PMID:10196713|PMID:10987647|PMID:11087000|PMID:11333869|PMID:12021773|PMID:12162770|PMID:12746400|PMID:16718611|PMID:17431902|PMID:17576681|PMID:17661817|PMID:18575463|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:22980975|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27627659|PMID:28000701|PMID:28492532|PMID:28946916|PMID:29196752|PMID:29293505|PMID:30311386|PMID:30935366|PMID:31163360|PMID:31554319|PMID:32747562|PMID:32853555|PMID:33297549|PMID:34008892|PMID:34795337|PMID:9536098|PMID:9590290 1309824 Tecta tectorin alpha gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1320369 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 1309824 Tecta tectorin alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1309824 Tecta tectorin alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1309824 Tecta tectorin alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1309824 Tecta tectorin alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1309824 Tecta tectorin alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1320369 D RGD:1599380|PMID:9590290 20070201 RGD autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543 1309824 Tecta tectorin alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1320369 D RGD:1599381|PMID:9949200 20070201 RGD autosomal recessive sensorineural nonsyndromic deafness DFNB21, OMIM:603629 1309824 Tecta tectorin alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1320369 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 1309824 Tecta tectorin alpha gene DOID:5419 schizophrenia ISO RGD:1320369 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309824 Tecta tectorin alpha gene DOID:630 genetic disease ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 1309824 Tecta tectorin alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320369 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309824 Tecta tectorin alpha gene DOID:9004538 Hearing Loss ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:21520338|PMID:24033266|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26969326|PMID:27068579|PMID:28492532|PMID:30311386|PMID:34008892 1309824 Tecta tectorin alpha gene DOID:9007661 Dwarfism ISO RGD:1320369 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309824 Tecta tectorin alpha gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1320369 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868 1309824 Tecta tectorin alpha gene DOID:9008681 Deafness ISO RGD:1320369 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1309824 Tecta tectorin alpha gene DOID:9849 Meniere's disease ISO RGD:1320369 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:28492532 1309825 Dmpk DM1 protein kinase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320371 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 1309825 Dmpk DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:1600900|PMID:8595416 20070330 RGD DNA:trinucleotide expansion:3'UTR 1309825 Dmpk DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:7240710 20141112 OMIM 1309825 Dmpk DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome PMID:18414213|PMID:25637381|PMID:25741868 1309825 Dmpk DM1 protein kinase gene DOID:3490 Noonan syndrome ISO RGD:1320371 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1309825 Dmpk DM1 protein kinase gene DOID:450 myotonic disease ISO RGD:1320371 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:24039817|PMID:27030674 1309825 Dmpk DM1 protein kinase gene DOID:630 genetic disease ISO RGD:1320371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1309825 Dmpk DM1 protein kinase gene DOID:9008993 Myotonia ISO RGD:1320371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039817 1309826 Caps2 calcyphosine 2 gene DOID:630 genetic disease ISO RGD:1320373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309828 Irag1 inositol 1,4,5-triphosphate receptor associated 1 gene DOID:630 genetic disease ISO RGD:1320377 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18940309|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0111754 Leber plus disease ISO RGD:1603963 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber plus disease PMID:25741868 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29261183|PMID:30473481 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:7240710 20190315 OMIM 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:17576681|PMID:18940309|PMID:19542079|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:31130284|PMID:34177781|PMID:34645488|PMID:9536098 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:3652 Leigh disease ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26275793|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:32005694|PMID:32348839|PMID:32918965|PMID:34177781|PMID:9536098 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:630 genetic disease ISO RGD:1603963 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 1309829 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781|PMID:9536098 1309830 Limd1 LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1320381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309830 Limd1 LIM domain containing 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:25741868 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:7240710 20170222 OMIM 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30783801|PMID:30864118|PMID:32081864|PMID:33822359|PMID:34248956|PMID:9536098 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:607 paraplegia ISO RGD:1320383 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:630 genetic disease ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1320383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217959 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:9002805 Enterocolitis ISO RGD:1320383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217960 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1320383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217959|PMID:25217960 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:7240710 20141126 OMIM 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) PMID:16199547|PMID:17576681|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30319625|PMID:30783801|PMID:30864118|PMID:32081864|PMID:33822359|PMID:34248956|PMID:9536098 1309831 Nlrc4 NLR family, CARD domain containing 4 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1320383 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1309832 Exosc6 exosome component 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1309832 Exosc6 exosome component 6 gene DOID:630 genetic disease ISO RGD:1320385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309833 Serpinb8 serpin family B member 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1320387 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1309833 Serpinb8 serpin family B member 8 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320387 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1309833 Serpinb8 serpin family B member 8 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1320387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1309833 Serpinb8 serpin family B member 8 gene DOID:630 genetic disease ISO RGD:1320387 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309833 Serpinb8 serpin family B member 8 gene DOID:8893 psoriasis ISO RGD:1320387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 1309833 Serpinb8 serpin family B member 8 gene DOID:9005907 Peeling Skin Syndrome 5 ISO RGD:1320387 D RGD:7240710 20190315 OMIM 1309833 Serpinb8 serpin family B member 8 gene DOID:9005907 Peeling Skin Syndrome 5 ISO RGD:1320387 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 5 PMID:25741868|PMID:27476651|PMID:28492532 1309834 Irx2 iroquois homeobox 2 gene DOID:630 genetic disease ISO RGD:1346652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309834 Irx2 iroquois homeobox 2 gene DOID:850 lung disease ISO RGD:1346652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 1309835 Zfp488 zinc finger protein 488 gene DOID:5419 schizophrenia ISO RGD:1320391 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309835 Zfp488 zinc finger protein 488 gene DOID:630 genetic disease ISO RGD:1320391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1320394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:1320394 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia PMID:23809206|PMID:26316623 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:25741868|PMID:28255014|PMID:31064749|PMID:32581362 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:1588 thrombocytopenia ISO RGD:1320394 D RGD:1582490|PMID:15232614 20061110 RGD 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:1588 thrombocytopenia ISO RGD:1320394 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24100448|PMID:32581362 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:2213 hemorrhagic disease ISO RGD:1320394 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24100448|PMID:32581362 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:3369 Ewing sarcoma ISO RGD:1320394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11772151|PMID:16646077|PMID:26214589 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:418 systemic scleroderma ISS RGD:1320395 D RGD:13592920 20180518 MouseDO OMIM:181750 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:5419 schizophrenia ISO RGD:1320394 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:630 genetic disease ISO RGD:1320394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:7240710 20190315 OMIM 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 PMID:23809206|PMID:24100448|PMID:25741868|PMID:26316623|PMID:28255014|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32987389|PMID:34355501 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320394 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309837 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9007661 Dwarfism ISO RGD:1320394 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309838 Macc1 MET transcriptional regulator MACC1 gene DOID:0080600 COVID-19 ISO RGD:1602631 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309838 Macc1 MET transcriptional regulator MACC1 gene DOID:4362 cervical cancer ISO RGD:1602631 D RGD:152999025|PMID:33603486 20220718 RGD mRNA:increased expression:cervical region (human) 1309838 Macc1 MET transcriptional regulator MACC1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602631 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309838 Macc1 MET transcriptional regulator MACC1 gene DOID:630 genetic disease ISO RGD:1602631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309838 Macc1 MET transcriptional regulator MACC1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1602631 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 1309839 Enkur enkurin, TRPC channel interacting protein gene DOID:630 genetic disease ISO RGD:1320397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309840 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1320399 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309840 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320399 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309840 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:5119 ovarian cyst ISO RGD:1320399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1309840 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:630 genetic disease ISO RGD:1320399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:0090112 Nasu-Hakola disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:18546367|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24899047|PMID:24990881|PMID:25615530|PMID:25741868|PMID:27995897|PMID:28492532|PMID:28559417|PMID:28768830|PMID:29142083|PMID:29557178 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320401 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:24663666|PMID:28714976 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:1307 dementia ISO RGD:1320401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18546367 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:4166 syphilis ISO RGD:1320401 D RGD:127285386|PMID:32117023 20210618 RGD associated with age;protein:increased expression:CSF (human) 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:630 genetic disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25886450|PMID:27589997|PMID:28492532|PMID:28620717|PMID:32638105 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1320401 D RGD:127285386|PMID:32117023 20210618 RGD protein:increased expression:CSF (human) 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:7240710 20190315 OMIM 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:19019460|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24119542|PMID:24139279|PMID:24685331|PMID:24899047|PMID:25186855|PMID:25615530|PMID:25741868|PMID:25886450|PMID:27067662|PMID:27084067|PMID:27589997|PMID:27995897|PMID:28376694|PMID:28492532|PMID:28620717|PMID:28768830|PMID:29142083|PMID:29723869|PMID:31217084|PMID:32319261|PMID:32638105|PMID:6681564 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:905 Zellweger syndrome ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9255 frontotemporal dementia ISO RGD:1320401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23582655|PMID:24119542|PMID:25186855|PMID:25741868|PMID:28492532|PMID:29723869 1309841 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9255 frontotemporal dementia ISS RGD:1320402 D RGD:13592920 20180518 MouseDO OMIM:600274 | OMIM:600795 1309842 Psmd8 proteasome 26S subunit, non-ATPase 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1309842 Psmd8 proteasome 26S subunit, non-ATPase 8 gene DOID:630 genetic disease ISO RGD:1320403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309843 Slc35d1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:7240710 20130221 OMIM 1309843 Slc35d1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:9536098 1309843 Slc35d1 solute carrier family 35 member D1 gene DOID:1059 intellectual disability ISO RGD:1320404 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1309843 Slc35d1 solute carrier family 35 member D1 gene DOID:630 genetic disease ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309843 Slc35d1 solute carrier family 35 member D1 gene DOID:65 connective tissue disease ISO RGD:1320404 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1309843 Slc35d1 solute carrier family 35 member D1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1309844 Pde6c phosphodiesterase 6C gene DOID:0050572 cone-rod dystrophy ISO RGD:1320406 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 1309844 Pde6c phosphodiesterase 6C gene DOID:0050795 cone dystrophy ISO RGD:1320406 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Cone dystrophy 1309844 Pde6c phosphodiesterase 6C gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 1309844 Pde6c phosphodiesterase 6C gene DOID:13911 achromatopsia ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28041643|PMID:28492532|PMID:28704108|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 1309844 Pde6c phosphodiesterase 6C gene DOID:13911 achromatopsia ISS RGD:1320407 D RGD:13592920 20180518 MouseDO 1309844 Pde6c phosphodiesterase 6C gene DOID:630 genetic disease ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309844 Pde6c phosphodiesterase 6C gene DOID:670 amphetamine abuse ISO RGD:1320406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1309844 Pde6c phosphodiesterase 6C gene DOID:8501 fundus dystrophy ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19887631|PMID:23776498|PMID:26103963|PMID:28492532|PMID:30080950 1309844 Pde6c phosphodiesterase 6C gene DOID:9007377 Achromatopsia 5 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 5 PMID:16199547|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950 1309844 Pde6c phosphodiesterase 6C gene DOID:9008296 Eye Abnormalities ISO RGD:1320406 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 1309844 Pde6c phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:7240710 20130221 OMIM 1309844 Pde6c phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:27124789|PMID:28041643|PMID:28492532|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 1309845 Zmynd15 zinc finger, MYND-type containing 15 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320408 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1309845 Zmynd15 zinc finger, MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:7240710 20140911 OMIM 1309845 Zmynd15 zinc finger, MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 14 PMID:33169450 1309845 Zmynd15 zinc finger, MYND-type containing 15 gene DOID:12336 male infertility ISO RGD:1320408 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Male infertility 1309845 Zmynd15 zinc finger, MYND-type containing 15 gene DOID:630 genetic disease ISO RGD:1320408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309846 Chmp4b charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:7240710 20140312 OMIM 1309846 Chmp4b charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 31 multiple types PMID:10682967|PMID:17701905|PMID:28492532 1309846 Chmp4b charged multivesicular body protein 4B gene DOID:2843 long QT syndrome ISO RGD:1320409 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1309846 Chmp4b charged multivesicular body protein 4B gene DOID:630 genetic disease ISO RGD:1320409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309847 Rassf10 Ras association domain family member 10 gene DOID:1059 intellectual disability ISO RGD:2290196 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309847 Rassf10 Ras association domain family member 10 gene DOID:630 genetic disease ISO RGD:2290196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309848 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:0080600 COVID-19 ISO RGD:1605852 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309848 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:630 genetic disease ISO RGD:1605852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309848 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss susceptibility ISO RGD:1605852 D RGD:11252147|PMID:27311106 20160627 RGD DNA:SNP:exon:rs35725509(human) 1309848 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9008681 Deafness ISO RGD:1605852 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27311106 1309849 Upk1a uroplakin 1A gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1309849 Upk1a uroplakin 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1309849 Upk1a uroplakin 1A gene DOID:543 dystonia ISO RGD:1320413 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1309849 Upk1a uroplakin 1A gene DOID:630 genetic disease ISO RGD:1320413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:7240710 20200708 OMIM 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 1 PMID:10982400|PMID:11013442|PMID:12114482|PMID:12444270|PMID:14598341|PMID:15150774|PMID:15214011|PMID:15340364|PMID:16199547|PMID:17576681|PMID:19050407|PMID:20003452|PMID:21951868|PMID:2231797|PMID:22317976|PMID:23967202|PMID:24108658|PMID:24994558|PMID:25741868|PMID:25790162|PMID:26467025|PMID:28065470|PMID:28419064|PMID:28492532|PMID:29230583|PMID:30311386|PMID:31307516|PMID:32257192|PMID:33332773|PMID:8563749|PMID:8894686|PMID:9042910|PMID:9096354|PMID:9536098|PMID:9736782|PMID:9811939 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1320415 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:2339 Crouzon syndrome ISO RGD:1320415 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Crouzon syndrome PMID:25741868 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:2908 Treacher Collins syndrome ISO RGD:1320415 D RGD:1599379|PMID:9096354 20070201 RGD 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:2908 Treacher Collins syndrome ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome PMID:22317976|PMID:25741868|PMID:28492532|PMID:8894686 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:2908 Treacher Collins syndrome ISS RGD:1320416 D RGD:13592920 20200709 MouseDO OMIM:154500 | OMIM:248390 | OMIM:613717 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320415 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 1309850 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320415 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 1309851 Zcrb1 zinc finger CCHC-type and RNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1604568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:28492532|PMID:29075935 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:7240710 20190515 OMIM 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 PMID:17576681|PMID:22700954|PMID:25741868|PMID:26016410|PMID:28492532|PMID:29075935|PMID:9536098 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:3323 Sandhoff disease ISO RGD:1603941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:18758829|PMID:28492532|PMID:7550345 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700954|PMID:25741868|PMID:28492532 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28492532|PMID:29075935 1309854 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603941 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309856 Tbx18 T-box transcription factor 18 gene DOID:0080205 CAKUT ISO RGD:1350500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26235987|PMID:30143558 1309856 Tbx18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:7240710 20151209 OMIM 1309856 Tbx18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction PMID:25741868|PMID:25741890|PMID:26235987|PMID:28492532|PMID:30143558 1309856 Tbx18 T-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309856 Tbx18 T-box transcription factor 18 gene DOID:784 chronic kidney disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1309857 Snx19 sorting nexin 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604682 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1309857 Snx19 sorting nexin 19 gene DOID:5419 schizophrenia ISO RGD:1604682 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309857 Snx19 sorting nexin 19 gene DOID:630 genetic disease ISO RGD:1604682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309857 Snx19 sorting nexin 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604682 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309857 Snx19 sorting nexin 19 gene DOID:9007661 Dwarfism ISO RGD:1604682 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309860 Alpk3 alpha-kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344760 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21441111|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:32480058|PMID:33191771|PMID:34263907 1309860 Alpk3 alpha-kinase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344760 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21441111|PMID:24033266|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:32480058|PMID:34263907 1309860 Alpk3 alpha-kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1344760 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309860 Alpk3 alpha-kinase 3 gene DOID:630 genetic disease ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309860 Alpk3 alpha-kinase 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1344760 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 1309860 Alpk3 alpha-kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:32480058|PMID:34263907 1309860 Alpk3 alpha-kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:7240710 20190315 OMIM 1309860 Alpk3 alpha-kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 PMID:17576681|PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:30046096|PMID:30192042|PMID:30513141|PMID:30847666|PMID:31074094|PMID:32442321|PMID:32480058|PMID:32746448|PMID:33076350|PMID:34263907|PMID:34526680|PMID:9536098 1309860 Alpk3 alpha-kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1344760 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309861 Adamdec1 ADAM-like, decysin 1 gene DOID:630 genetic disease ISO RGD:1320430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309862 Pla2g2d phospholipase A2, group IID gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1309862 Pla2g2d phospholipase A2, group IID gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320432 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309862 Pla2g2d phospholipase A2, group IID gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1309862 Pla2g2d phospholipase A2, group IID gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1309862 Pla2g2d phospholipase A2, group IID gene DOID:630 genetic disease ISO RGD:1320432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309862 Pla2g2d phospholipase A2, group IID gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1309863 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1309863 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:10907 microcephaly ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:34385670 1309863 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:1826 epilepsy ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:34385670 1309863 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1604770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309863 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spasticity PMID:34385670 1309866 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1309866 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1309866 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1309866 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:1059 intellectual disability ISO RGD:1604838 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1309866 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:630 genetic disease ISO RGD:1604838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309866 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320441 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:1059 intellectual disability ISO RGD:1320441 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1320441 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1320441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320441 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309868 Ei24 EI24, autophagy associated transmembrane protein gene DOID:9007661 Dwarfism ISO RGD:1320441 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1309869 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 1309869 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:0080600 COVID-19 ISO RGD:1320443 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309869 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1320443 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 1309869 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1320443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1309869 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:630 genetic disease ISO RGD:1320443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309869 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320443 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309870 Spmip7 sperm microtubule inner protein 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2902413 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309871 Atl3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:7240710 20140911 OMIM 1309871 Atl3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F PMID:16199547|PMID:17576681|PMID:24459106|PMID:24736309|PMID:25741868|PMID:28492532|PMID:30680846|PMID:9536098 1309871 Atl3 atlastin GTPase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309871 Atl3 atlastin GTPase 3 gene DOID:10283 prostate cancer ISO RGD:1601766 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1309871 Atl3 atlastin GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1601766 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309871 Atl3 atlastin GTPase 3 gene DOID:2843 long QT syndrome ISO RGD:1601766 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1309871 Atl3 atlastin GTPase 3 gene DOID:630 genetic disease ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1309872 Rexo1 RNA exonuclease 1 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1309872 Rexo1 RNA exonuclease 1 homolog gene DOID:11612 polycystic ovary syndrome ISO RGD:1320447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309872 Rexo1 RNA exonuclease 1 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1309872 Rexo1 RNA exonuclease 1 homolog gene DOID:630 genetic disease ISO RGD:1320447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309872 Rexo1 RNA exonuclease 1 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320447 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309873 Mrap2 melanocortin 2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1320449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309873 Mrap2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity ISO RGD:1320449 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1309873 Mrap2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity ISO RGD:1320449 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 18 PMID:23869016|PMID:25741868|PMID:28492532 1309873 Mrap2 melanocortin 2 receptor accessory protein 2 gene DOID:9970 obesity susceptibility ISO RGD:1320449 D RGD:7240710 20190502 OMIM 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15036822|PMID:23507574 20191126 RGD mRNA, protein:decreased expression:liver,serum 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1320450 D RGD:15036822|PMID:23507574 20191126 RGD mRNA:decreased expression:liver 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:1320451 D RGD:15036822|PMID:23507574 20191126 RGD 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:10591 pre-eclampsia ISO RGD:1320450 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:10603 glucose intolerance ISO RGD:1320450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22355640 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:10825 essential hypertension ISO RGD:1320450 D RGD:15036820|PMID:24047472 20191126 RGD protein:increased expression:serum: 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:11612 polycystic ovary syndrome treatment IEP D RGD:15036823|PMID:24762064 20191126 RGD 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:2999 granulosa cell tumor ISO RGD:1320450 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:630 genetic disease ISO RGD:1320450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:15036825|PMID:30873215 20191126 RGD protein:increased expression:multiple: 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:9970 obesity IEP D RGD:15036824|PMID:31284705 20191126 RGD protein:increased expression:serum: 1309874 Rarres2 retinoic acid receptor responder 2 gene DOID:9970 obesity IEP D RGD:15036825|PMID:30873215 20191126 RGD protein:increased expression:serum: 1309875 Lig3 DNA ligase 3 gene DOID:1793 pancreatic cancer resistance ISO RGD:1320452 D RGD:2317363|PMID:19147782 20100330 RGD DNA:SNP:intron:rs 2074522 (human) 1309875 Lig3 DNA ligase 3 gene DOID:630 genetic disease ISO RGD:1320452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309875 Lig3 DNA ligase 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1320452 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 1309875 Lig3 DNA ligase 3 gene DOID:9001068 Mitochondrial DNA Depletion Syndrome 20 ISO RGD:1320452 D RGD:7240710 20220330 OMIM 1309875 Lig3 DNA ligase 3 gene DOID:9001068 Mitochondrial DNA Depletion Syndrome 20 ISO RGD:1320452 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) PMID:25741868|PMID:33855352|PMID:34165507 1309875 Lig3 DNA ligase 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2302580|PMID:17412650 20100416 RGD protein:increased expression:brain 1309875 Lig3 DNA ligase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320452 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309876 Tspan31 tetraspanin 31 gene DOID:2394 ovarian cancer ISO RGD:1320454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 1309876 Tspan31 tetraspanin 31 gene DOID:3369 Ewing sarcoma ISO RGD:1320454 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 1309876 Tspan31 tetraspanin 31 gene DOID:630 genetic disease ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309876 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 1309876 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 1309876 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 1309876 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:31159747 1309876 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 1309876 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 1309877 Maea macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1320456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1309877 Maea macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1320456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309877 Maea macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1349063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:7240710 20190327 OMIM 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:22473091|PMID:24056717|PMID:25741868|PMID:28492532 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:2661 myoepithelioma ISO RGD:1349063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:630 genetic disease ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1349063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:7240710 20151125 OMIM 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2 PMID:12707861|PMID:25741868|PMID:26258302|PMID:28492532 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392 1309878 Dchs1 dachsous cadherin-related 1 gene DOID:988 mitral valve prolapse ISS RGD:1616539 D RGD:13592920 20180518 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 1309879 Fam89a family with sequence similarity 89, member A gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1309879 Fam89a family with sequence similarity 89, member A gene DOID:0080600 COVID-19 ISO RGD:1602405 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309879 Fam89a family with sequence similarity 89, member A gene DOID:1540 parathyroid carcinoma ISO RGD:1602405 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309879 Fam89a family with sequence similarity 89, member A gene DOID:630 genetic disease ISO RGD:1602405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309879 Fam89a family with sequence similarity 89, member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309879 Fam89a family with sequence similarity 89, member A gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1309879 Fam89a family with sequence similarity 89, member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602405 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309880 Tcea1 transcription elongation factor A1 gene DOID:630 genetic disease ISO RGD:1320461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:25741868|PMID:28492532|PMID:31253780 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:7240710 20130731 OMIM 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532|PMID:29048736 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:7240710 20130731 OMIM 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:20440071|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26849169|PMID:28492532|PMID:32050993 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:7240710 20190315 OMIM 1309882 Pdzd7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 57 PMID:16199547|PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:26849169|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30622556|PMID:31454969|PMID:31827275|PMID:32048449|PMID:33724713|PMID:35802133|PMID:36633841 1309882 Pdzd7 PDZ domain containing 7 gene DOID:630 genetic disease ISO RGD:1320465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20440071|PMID:24033266|PMID:25741868|PMID:28492532 1309882 Pdzd7 PDZ domain containing 7 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532 1309882 Pdzd7 PDZ domain containing 7 gene DOID:9004538 Hearing Loss ISO RGD:1320465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17576681|PMID:28492532|PMID:30311386|PMID:9536098 1309883 Mtss1 MTSS I-BAR domain containing 1 gene DOID:0060060 non-Hodgkin lymphoma ISS RGD:1320467 D RGD:13592920 20180518 MouseDO OMIM:605027 1309883 Mtss1 MTSS I-BAR domain containing 1 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1320466 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 1309883 Mtss1 MTSS I-BAR domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320466 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1309883 Mtss1 MTSS I-BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1320466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309883 Mtss1 MTSS I-BAR domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320466 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309883 Mtss1 MTSS I-BAR domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320466 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1309884 Cep57 centrosomal protein 57 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:12116237|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053 1309884 Cep57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:7240710 20140911 OMIM 1309884 Cep57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:12116237|PMID:16199547|PMID:17576681|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053|PMID:9536098 1309884 Cep57 centrosomal protein 57 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1602500 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:21552266|PMID:28553959 1309884 Cep57 centrosomal protein 57 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1602500 D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1309884 Cep57 centrosomal protein 57 gene DOID:1059 intellectual disability ISO RGD:1602500 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309884 Cep57 centrosomal protein 57 gene DOID:12704 ataxia telangiectasia ISO RGD:1602500 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1309884 Cep57 centrosomal protein 57 gene DOID:630 genetic disease ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309885 Chodl chondrolectin gene DOID:10652 Alzheimer's disease ISO RGD:1320469 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1309885 Chodl chondrolectin gene DOID:630 genetic disease ISO RGD:1320469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309885 Chodl chondrolectin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320469 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309886 Tmem79 transmembrane protein 79 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1309886 Tmem79 transmembrane protein 79 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309886 Tmem79 transmembrane protein 79 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309886 Tmem79 transmembrane protein 79 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309886 Tmem79 transmembrane protein 79 gene DOID:1540 parathyroid carcinoma ISO RGD:1601945 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309886 Tmem79 transmembrane protein 79 gene DOID:3310 atopic dermatitis ISS RGD:1332023 D RGD:13592920 20180518 MouseDO OMIM:603165 1309886 Tmem79 transmembrane protein 79 gene DOID:5812 MHC class II deficiency ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309886 Tmem79 transmembrane protein 79 gene DOID:630 genetic disease ISO RGD:1601945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309886 Tmem79 transmembrane protein 79 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601945 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309887 Kctd20 potassium channel tetramerization domain containing 20 gene DOID:0050553 JMP syndrome ISO RGD:1320472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1309887 Kctd20 potassium channel tetramerization domain containing 20 gene DOID:630 genetic disease ISO RGD:1320472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060041 autism spectrum disorder ISO RGD:1606789 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:5419 schizophrenia ISO RGD:1606789 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606789 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606789 D RGD:155882446|PMID:34456727 20230118 RGD 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:7240710 20221221 OMIM 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies PMID:35087184 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:31390136 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:7240710 20190315 OMIM 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart and brain malformation syndrome PMID:25741868|PMID:27018474|PMID:28492532|PMID:31390136 1309888 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9008086 Developmental Disabilities ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27018474 1309890 Arhgef17 Rho guanine nucleotide exchange factor 17 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320476 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1309890 Arhgef17 Rho guanine nucleotide exchange factor 17 gene DOID:1059 intellectual disability ISO RGD:1320476 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309890 Arhgef17 Rho guanine nucleotide exchange factor 17 gene DOID:630 genetic disease ISO RGD:1320476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309891 Brd7 bromodomain containing 7 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1320478 D RGD:9586444|PMID:23215825 20141001 RGD mRNA,protein:decreased expression:colon: 1309891 Brd7 bromodomain containing 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1309891 Brd7 bromodomain containing 7 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1320478 D RGD:9586445|PMID:24198243 20141001 RGD mRNA:decreased expression:ovary 1309891 Brd7 bromodomain containing 7 gene DOID:3068 glioblastoma ISO RGD:1320478 D RGD:9586441|PMID:24404152 20141001 RGD protein:increased expression:brain: 1309891 Brd7 bromodomain containing 7 gene DOID:3069 malignant astrocytoma severity ISO RGD:1320478 D RGD:9586441|PMID:24404152 20141001 RGD protein:increased expression:brain: 1309891 Brd7 bromodomain containing 7 gene DOID:3070 high grade glioma ISO RGD:1320478 D RGD:9586441|PMID:24404152 20141001 RGD protein:increased expression:brain: 1309891 Brd7 bromodomain containing 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320478 D RGD:9586442|PMID:22008115 20141001 RGD protein:increased expression:lung: 1309891 Brd7 bromodomain containing 7 gene DOID:630 genetic disease ISO RGD:1320478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309891 Brd7 bromodomain containing 7 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1320478 D RGD:9586442|PMID:22008115 20141001 RGD protein:increased expression:lung: 1309891 Brd7 bromodomain containing 7 gene DOID:9008863 Malignant Granular Cell Tumor ISO RGD:1320478 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: malignant granular cell tumor 1309891 Brd7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1320478 D RGD:9586443|PMID:18772500 20141001 RGD mRNA:increased expression:bone marrow: 1309891 Brd7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1320478 D RGD:9586443|PMID:18772500 20141001 RGD DNA:haplotype:cds:737A>G,495C>T(human) 1309892 Tmem183a transmembrane protein 183A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1309892 Tmem183a transmembrane protein 183A gene DOID:10283 prostate cancer ISO RGD:1320480 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309892 Tmem183a transmembrane protein 183A gene DOID:1540 parathyroid carcinoma ISO RGD:1320480 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309892 Tmem183a transmembrane protein 183A gene DOID:630 genetic disease ISO RGD:1320480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309892 Tmem183a transmembrane protein 183A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1309892 Tmem183a transmembrane protein 183A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320480 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309893 Polh DNA polymerase eta gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22745795 1309893 Polh DNA polymerase eta gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 1309893 Polh DNA polymerase eta gene DOID:0050444 infantile Refsum disease ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309893 Polh DNA polymerase eta gene DOID:0050671 female breast cancer susceptibility ISO RGD:1320482 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 1309893 Polh DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:7240710 20130221 OMIM 1309893 Polh DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25741868|PMID:26884178|PMID:27004399|PMID:28202063|PMID:28492532|PMID:30414346|PMID:33558524|PMID:35111200|PMID:36308448 1309893 Polh DNA polymerase eta gene DOID:1612 breast cancer ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 1309893 Polh DNA polymerase eta gene DOID:630 genetic disease ISO RGD:1320482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309893 Polh DNA polymerase eta gene DOID:905 Zellweger syndrome ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1309895 Pcdhb8 protocadherin beta 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314555 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1309895 Pcdhb8 protocadherin beta 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309895 Pcdhb8 protocadherin beta 8 gene DOID:630 genetic disease ISO RGD:1314555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309895 Pcdhb8 protocadherin beta 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314555 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309895 Pcdhb8 protocadherin beta 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309896 Prr12 proline rich 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1309896 Prr12 proline rich 12 gene DOID:1059 intellectual disability ISO RGD:1320487 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309896 Prr12 proline rich 12 gene DOID:10629 microphthalmia ISO RGD:1320487 D RGD:8554872 20211019 ClinVar ClinVar Annotator: match by term: complex microphthalmia PMID:33314030 1309896 Prr12 proline rich 12 gene DOID:12849 autistic disorder ISO RGD:1320487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:29556724|PMID:33824499 1309896 Prr12 proline rich 12 gene DOID:630 genetic disease ISO RGD:1320487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309896 Prr12 proline rich 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320487 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27479843|PMID:28135719|PMID:29556724|PMID:33824499 1309896 Prr12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:7240710 20211027 OMIM 1309896 Prr12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroocular syndrome PMID:25741868|PMID:29556724|PMID:33314030|PMID:33824499 1309898 Bdh2 3-hydroxybutyrate dehydrogenase 2 gene DOID:3633 beta-mannosidosis ISO RGD:1604606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1309898 Bdh2 3-hydroxybutyrate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1604606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:0111254 glutaric acidemia I ISO RGD:1320493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:3413 alpha-mannosidosis ISO RGD:1320493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1320493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1320493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309899 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:9000918 Disease Progression ISO RGD:1320493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:7240710 20160928 OMIM 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:24220513|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32662538|PMID:33983693|PMID:9536098 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:10283 prostate cancer ISO RGD:1320495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:1059 intellectual disability ISO RGD:1320495 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:14330 Parkinson's disease ISO RGD:1320495 D RGD:10450521|PMID:25639775 20160115 RGD 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:630 genetic disease ISO RGD:1320495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26528954|PMID:28191889|PMID:28492532|PMID:31737044 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320495 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1309900 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1320495 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:2256350|PMID:22563501|PMID:24220513|PMID:32214227|PMID:33983693 1309901 Rccd1 RCC1 domain containing 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1309901 Rccd1 RCC1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309901 Rccd1 RCC1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309901 Rccd1 RCC1 domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605899 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1309902 Dixdc1 DIX domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1309902 Dixdc1 DIX domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 1309902 Dixdc1 DIX domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1320498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1309902 Dixdc1 DIX domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 1309902 Dixdc1 DIX domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1320498 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309902 Dixdc1 DIX domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1320498 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1309902 Dixdc1 DIX domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1320498 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 1309902 Dixdc1 DIX domain containing 1 gene DOID:1596 depressive disorder ISO RGD:1320498 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 1309902 Dixdc1 DIX domain containing 1 gene DOID:2030 anxiety disorder ISO RGD:1320498 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 1309902 Dixdc1 DIX domain containing 1 gene DOID:3312 bipolar disorder ISO RGD:1320498 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 1309902 Dixdc1 DIX domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1320498 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 1309902 Dixdc1 DIX domain containing 1 gene DOID:630 genetic disease ISO RGD:1320498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309902 Dixdc1 DIX domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320498 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1309902 Dixdc1 DIX domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1309902 Dixdc1 DIX domain containing 1 gene DOID:9970 obesity ISO RGD:1320498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Obesity 1309903 Arfgef3 ARFGEF family member 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1320499 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1309903 Arfgef3 ARFGEF family member 3 gene DOID:543 dystonia ISO RGD:1320499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:33098801 1309903 Arfgef3 ARFGEF family member 3 gene DOID:630 genetic disease ISO RGD:1320499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309903 Arfgef3 ARFGEF family member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1320499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868 1309904 Prg3 proteoglycan 3, pro eosinophil major basic protein 2 gene DOID:1059 intellectual disability ISO RGD:1320501 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309904 Prg3 proteoglycan 3, pro eosinophil major basic protein 2 gene DOID:630 genetic disease ISO RGD:1320501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309905 Zfp105 zinc finger protein 105 gene DOID:630 genetic disease ISO RGD:1320503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309906 Adprm ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent gene DOID:630 genetic disease ISO RGD:1604325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309907 Sypl2 synaptophysin-like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1309907 Sypl2 synaptophysin-like 2 gene DOID:12849 autistic disorder ISO RGD:1603517 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309907 Sypl2 synaptophysin-like 2 gene DOID:630 genetic disease ISO RGD:1603517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320507 D RGD:9835346|PMID:18551404 20150318 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1320507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320507 D RGD:9835343|PMID:24642466 20150318 RGD mRNA:increased expression:renal glomerulus (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9835037|PMID:16424023 20150317 RGD mRNA:decreased expression:pancreas (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147557|PMID:22614916 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9835344|PMID:19147557 20150318 RGD protein:decreased expression:epidermal melanocyte (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:3312 bipolar disorder ISO RGD:1320507 D RGD:5490162|PMID:16687443 20150318 RGD mRNA, protein:increased expression:dorsolateral prefrontal cortex (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1320507 D RGD:9835342|PMID:19066305 20150318 RGD protein:decreased expression:thyroid gland (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:630 genetic disease ISO RGD:1320507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:9000918 Disease Progression ISO RGD:1320507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9835038|PMID:17646383 20150317 RGD protein:decreased expression:thyroid gland (human) 1309908 Rap1gap Rap1 GTPase-activating protein gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1309910 Vwce von Willebrand factor C and EGF domains gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309910 Vwce von Willebrand factor C and EGF domains gene DOID:1059 intellectual disability ISO RGD:1602968 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309910 Vwce von Willebrand factor C and EGF domains gene DOID:630 genetic disease ISO RGD:1602968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309910 Vwce von Willebrand factor C and EGF domains gene DOID:9007661 Dwarfism ISO RGD:1602968 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1309911 Anxa11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:7240710 20190315 OMIM 1309911 Anxa11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34048612|PMID:35047667 1309911 Anxa11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:7240710 20220323 OMIM 1309911 Anxa11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612 1309911 Anxa11 annexin A11 gene DOID:11335 sarcoidosis ISO RGD:1320510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19165924 1309911 Anxa11 annexin A11 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:30109997|PMID:33087501|PMID:33218681|PMID:35047667|PMID:9536098 1309911 Anxa11 annexin A11 gene DOID:630 genetic disease ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501 1309911 Anxa11 annexin A11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320510 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:1540 parathyroid carcinoma ISO RGD:1320511 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:182 calcinosis ISO RGD:1320511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:4079 heart valve disease ISO RGD:1320511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:630 genetic disease ISO RGD:1320511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:7148 rheumatoid arthritis ISO RGD:1320511 D RGD:9685708|PMID:16670289 20150121 RGD protein:increased expression:synovial joint: 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9002211 Hyperalgesia ameliorates IMP D RGD:127338469|PMID:32510872 20210707 RGD 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9002457 Experimental Arthritis IEP D RGD:127338469|PMID:32510872 20210707 RGD protein:increased expression:dorsal root ganglion 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9002457 Experimental Arthritis ISO RGD:10573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12875993 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9002457 Experimental Arthritis ISO RGD:1320511 D RGD:9685708|PMID:16670289 20150121 RGD 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9004610 Acute Lung Injury IMP D RGD:5147925|PMID:19106808 20120322 RGD 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1320511 D RGD:9685699|PMID:22402584 20150121 RGD 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1320511 D RGD:8554872 20200818 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 1309912 Fcgr1a Fc gamma receptor 1A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320511 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309914 Trpc4ap transient receptor potential cation channel, subfamily C, member 4 associated protein gene DOID:2843 long QT syndrome ISO RGD:1320513 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:28492532 1309914 Trpc4ap transient receptor potential cation channel, subfamily C, member 4 associated protein gene DOID:630 genetic disease ISO RGD:1320513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309916 Sall1 spalt-like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9425907|PMID:16088922 1309916 Sall1 spalt-like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:7240710 20130221 OMIM 1309916 Sall1 spalt-like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 PMID:10533063|PMID:10819639|PMID:10928856|PMID:11102974|PMID:11478532|PMID:11484202|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16971658|PMID:17221874|PMID:17431915|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29758562|PMID:30143558|PMID:30311386|PMID:30655312|PMID:8133838|PMID:9425907|PMID:9973281 1309916 Sall1 spalt-like transcription factor 1 gene DOID:0080205 CAKUT ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558 1309916 Sall1 spalt-like transcription factor 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 1309916 Sall1 spalt-like transcription factor 1 gene DOID:0111766 X-linked VACTERL association ISO RGD:1320515 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:25741868 1309916 Sall1 spalt-like transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320515 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309916 Sall1 spalt-like transcription factor 1 gene DOID:14766 renal agenesis ISO RGD:1320516 D RGD:155641230|PMID:11688560 20221102 RGD 1309916 Sall1 spalt-like transcription factor 1 gene DOID:2810 middle lobe syndrome ISO RGD:1320515 D RGD:1599551|PMID:16088922 20070207 RGD Townes-Brocks syndrome, OMIM:602218 1309916 Sall1 spalt-like transcription factor 1 gene DOID:2810 middle lobe syndrome ISO RGD:1320515 D RGD:1599553|PMID:11102974 20070207 RGD Townes-Brocks syndrome, OMIM:602218 1309916 Sall1 spalt-like transcription factor 1 gene DOID:5176 renal Wilms' tumor ISO RGD:1320515 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 1309916 Sall1 spalt-like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309916 Sall1 spalt-like transcription factor 1 gene DOID:687 hepatoblastoma ISO RGD:1320515 D RGD:11556217|PMID:23822878 20161128 RGD embryonal subtype;protein:increased expression:liver, nucleus (human) 1309916 Sall1 spalt-like transcription factor 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1320515 D RGD:155631310|PMID:33298161 20221101 RGD human cells in rat model 1309916 Sall1 spalt-like transcription factor 1 gene DOID:9004452 Townes-Brocks-Branchiootorenal-Like Syndrome ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10928856|PMID:12915476|PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281 1309916 Sall1 spalt-like transcription factor 1 gene DOID:9004994 Embryo Loss ISO RGD:1320516 D RGD:155641230|PMID:11688560 20221102 RGD 1309916 Sall1 spalt-like transcription factor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1320515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20127799 1309916 Sall1 spalt-like transcription factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9425907|PMID:16088922 1309916 Sall1 spalt-like transcription factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1320515 D RGD:1599551|PMID:16088922 20070207 RGD Townes-Brocks syndrome, OMIM:602218 1309916 Sall1 spalt-like transcription factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1320515 D RGD:1599553|PMID:11102974 20070207 RGD Townes-Brocks syndrome, OMIM:602218 1309917 Ell3 elongation factor for RNA polymerase II 3 gene DOID:2717 Bloom syndrome ISO RGD:1320517 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309917 Ell3 elongation factor for RNA polymerase II 3 gene DOID:630 genetic disease ISO RGD:1320517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309917 Ell3 elongation factor for RNA polymerase II 3 gene DOID:9256 colorectal cancer ISO RGD:1320517 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309918 Rnaset2 ribonuclease T2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1320518 D RGD:153002831|PMID:27014725 20220720 RGD human cells in mouse model 1309918 Rnaset2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:7240710 20130619 OMIM 1309918 Rnaset2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly PMID:19525954|PMID:25741868|PMID:28492532 1309918 Rnaset2 ribonuclease T2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1320518 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 1309918 Rnaset2 ribonuclease T2 gene DOID:12361 Graves' disease ISO RGD:1320518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21841780 1309918 Rnaset2 ribonuclease T2 gene DOID:1324 lung cancer ISO RGD:1320518 D RGD:153297750|PMID:29193083 20220721 RGD DNA:SNP:intergenic:rs444210 (human) 1309918 Rnaset2 ribonuclease T2 gene DOID:1909 melanoma ISO RGD:1320518 D RGD:153002831|PMID:27014725 20220720 RGD human cells in mouse model 1309918 Rnaset2 ribonuclease T2 gene DOID:219 colon cancer ISO RGD:1320519 D RGD:153002804|PMID:32197460 20220720 RGD 1309918 Rnaset2 ribonuclease T2 gene DOID:234 colon adenocarcinoma ISO RGD:1320518 D RGD:153002829|PMID:30842415 20220720 RGD human cells in mouse model 1309918 Rnaset2 ribonuclease T2 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1320518 D RGD:153002801|PMID:32528897 20220720 RGD mRNA, protein:decreased expression:stomach (human) 1309918 Rnaset2 ribonuclease T2 gene DOID:3883 Lynch syndrome ISO RGD:1320518 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 1309918 Rnaset2 ribonuclease T2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1320518 D RGD:153002569|PMID:29763721 20220719 RGD mRNA:increased expression:lung (human) 1309918 Rnaset2 ribonuclease T2 gene DOID:630 genetic disease ISO RGD:1320518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309918 Rnaset2 ribonuclease T2 gene DOID:9005172 Lung Neoplasms ISO RGD:1320518 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 1309918 Rnaset2 ribonuclease T2 gene DOID:936 brain disease ISO RGD:1320518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525954 1309919 Cops6 COP9 signalosome subunit 6 gene DOID:10283 prostate cancer ISO RGD:1320520 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309919 Cops6 COP9 signalosome subunit 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320520 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309919 Cops6 COP9 signalosome subunit 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1309919 Cops6 COP9 signalosome subunit 6 gene DOID:630 genetic disease ISO RGD:1320520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:1059 intellectual disability ISO RGD:1320522 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:1909 melanoma ISO RGD:1320522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:2746 glycogen storage disease V ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:3070 high grade glioma ISO RGD:1320522 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1309920 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:630 genetic disease ISO RGD:1320522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33658040|PMID:35769956 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1320524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:7240710 20130425 OMIM 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13 PMID:11385718|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:24033266|PMID:24260207|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33552729|PMID:33658040|PMID:35769956|PMID:9536098 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:7240710 20130425 OMIM 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z PMID:11385718|PMID:15542288|PMID:16199547|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21262074|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:23861362|PMID:24033266|PMID:24260207|PMID:24503780|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27532257|PMID:27574918|PMID:27604170|PMID:27650965|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:28807990|PMID:29095814|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31918855|PMID:31983221|PMID:32013205|PMID:32038292|PMID:32481709|PMID:32815737|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33552729|PMID:33658040|PMID:35769956|PMID:9536098 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:24033266|PMID:24744096|PMID:25741868|PMID:27604170|PMID:28049727|PMID:28386062|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28798025|PMID:29253866|PMID:30847666|PMID:32038292|PMID:33552729 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320524 D RGD:1580739|PMID:11385718 19990101 RGD 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18572189|PMID:19439414|PMID:20459070|PMID:21056975|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28533433|PMID:28771489|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33658040|PMID:35769956 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20215591|PMID:21832052|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28807990|PMID:31333075|PMID:31568572 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:630 genetic disease ISO RGD:1320524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309921 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320524 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 1309922 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1605357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309922 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1605357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 1309922 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1309923 Bcl11a BCL11 transcription factor A gene DOID:0060041 autism spectrum disorder ISO RGD:1320527 D RGD:11099981|PMID:25363760 20160609 RGD DNA:mutations:multiple (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:0060135 apraxia ISO RGD:1320527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 1309923 Bcl11a BCL11 transcription factor A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320527 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 1309923 Bcl11a BCL11 transcription factor A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309923 Bcl11a BCL11 transcription factor A gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1320527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 1309923 Bcl11a BCL11 transcription factor A gene DOID:0080600 COVID-19 ISO RGD:1320527 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 1309923 Bcl11a BCL11 transcription factor A gene DOID:1059 intellectual disability ISO RGD:1320527 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1309923 Bcl11a BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320527 D RGD:11099970|PMID:18667698 20160609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320528 D RGD:11099996|PMID:21998251 20160610 RGD 1309923 Bcl11a BCL11 transcription factor A gene DOID:10923 sickle cell anemia treatment ISO RGD:1320527 D RGD:11100007|PMID:22360576 20160613 RGD 1309923 Bcl11a BCL11 transcription factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:1320527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1309923 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia ISO RGD:1320527 D RGD:11100005|PMID:22258351 20160613 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:11099969|PMID:23541515 20160609 RGD DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:11100008|PMID:25751242 20160613 RGD DNA:snp:intron:c.386-17267T>C (rs10189857) (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia treatment ISO RGD:1320527 D RGD:11100011|PMID:25574177 20160613 RGD 1309923 Bcl11a BCL11 transcription factor A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1320527 D RGD:11099968|PMID:23758992 20160609 RGD mRNA, protein:increased expression:lung (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:5419 schizophrenia ISO RGD:1320527 D RGD:11099977|PMID:25938782 20160609 RGD DNA:snps:multiple (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:630 genetic disease ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12196208|PMID:25741868|PMID:29985992 1309923 Bcl11a BCL11 transcription factor A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320527 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 1309923 Bcl11a BCL11 transcription factor A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1320527 D RGD:11100004|PMID:11719382 20160613 RGD DNA:translocation:5' utr: (human) 1309923 Bcl11a BCL11 transcription factor A gene DOID:9003071 Postaxial Polydactyly ISO RGD:1320527 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:25741868 1309923 Bcl11a BCL11 transcription factor A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1320527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1309923 Bcl11a BCL11 transcription factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320527 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1309923 Bcl11a BCL11 transcription factor A gene DOID:9005466 Language Development Disorders ISO RGD:1320527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 1309923 Bcl11a BCL11 transcription factor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320527 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1309923 Bcl11a BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:7240710 20190315 OMIM 1309923 Bcl11a BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868|PMID:27453576|PMID:28891213|PMID:31474318|PMID:33116287 1309923 Bcl11a BCL11 transcription factor A gene DOID:9008086 Developmental Disabilities ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741869 1309923 Bcl11a BCL11 transcription factor A gene DOID:9008582 Developmental Disease ISO RGD:1320527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320529 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:1206 Rett syndrome ISO RGD:1320529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:18298893|PMID:25741868|PMID:28492532|PMID:29276004 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:1826 epilepsy ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:543 dystonia ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:574 peripheral nervous system disease ISO RGD:1320529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:9009181 Developmental and Epileptic Encephalopathy 64 ISO RGD:1320529 D RGD:7240710 20190315 OMIM 1309924 Rhobtb2 Rho-related BTB domain containing 2 gene DOID:9009181 Developmental and Epileptic Encephalopathy 64 ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645|PMID:33619735 1309925 Dsg1 desmoglein 1 gene DOID:0014667 disease of metabolism ISO RGD:1320531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 1309925 Dsg1 desmoglein 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320531 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 1309925 Dsg1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:1598781|PMID:10332028 20061219 RGD DNA:snp:intron:IVS2-1G>A (human) 1309925 Dsg1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:7240710 20130221 OMIM 1309925 Dsg1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:10332028|PMID:11313759|PMID:15897387|PMID:16484817|PMID:19018793|PMID:19157795|PMID:19558595|PMID:23974871|PMID:24033266|PMID:25741868|PMID:27534273|PMID:28492532|PMID:31443639|PMID:7544663 1309925 Dsg1 desmoglein 1 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1320531 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma PMID:25741868 1309925 Dsg1 desmoglein 1 gene DOID:1059 intellectual disability ISO RGD:1320531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309925 Dsg1 desmoglein 1 gene DOID:1205 allergic disease ISO RGD:1320531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 1309925 Dsg1 desmoglein 1 gene DOID:2723 dermatitis ISO RGD:1320531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 1309925 Dsg1 desmoglein 1 gene DOID:630 genetic disease ISO RGD:1320531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309925 Dsg1 desmoglein 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1320531 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:decreased expression:gingival tissues (human) 1309925 Dsg1 desmoglein 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2316254|PMID:19500802 20100202 RGD protein:decreased expression:lung 1309925 Dsg1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:7240710 20140911 OMIM 1309925 Dsg1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME PMID:23974871|PMID:24033266|PMID:25741868|PMID:28492532 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:0080006 bone development disease ISO RGD:1349978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:0080600 COVID-19 ISO RGD:1349978 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:7240710 20130731 OMIM 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frank-Ter Haar syndrome PMID:15523657|PMID:20137777|PMID:22509100|PMID:23140272|PMID:24105366|PMID:25741868|PMID:28492532|PMID:29276006|PMID:31931872|PMID:31978614|PMID:7158646|PMID:8484415 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:10754 otitis media ISS RGD:1320533 D RGD:13592920 20180518 MouseDO OMIM:166760 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:13550 angle-closure glaucoma ISO RGD:1349978 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:1686 glaucoma ISS RGD:1320533 D RGD:13592920 20190307 MouseDO 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:630 genetic disease ISO RGD:1349978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29620724|PMID:35205281 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:9004538 Hearing Loss ISO RGD:1349978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:9006205 Animal Disease Models ISO RGD:1349978 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:9006257 Growth Disorders ISO RGD:1349978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:9008296 Eye Abnormalities ISO RGD:1349978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 1309926 Sh3pxd2b SH3 and PX domains 2B gene DOID:9282 ocular hypertension ISO RGD:1349978 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0050562 West syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0060041 autism spectrum disorder ISO RGD:1320534 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:7240710 20140903 OMIM 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY PMID:11572989|PMID:16199547|PMID:17470496|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27884173|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29905011|PMID:30356099|PMID:30853297|PMID:31216405|PMID:32214227|PMID:9536098 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:7240710 20170329 OMIM 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27717089|PMID:27848944|PMID:27884173|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31623504|PMID:9536098 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1320534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms PMID:11572989|PMID:11956080|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25403906|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27495153|PMID:27569545|PMID:27717089|PMID:27848944|PMID:27884173|PMID:27959697|PMID:28130116|PMID:28492532|PMID:29358611|PMID:29390993|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31130284|PMID:31216405|PMID:31618474|PMID:31623504|PMID:31780880|PMID:31957018|PMID:9536098 1309927 Wwox WW domain-containing oxidoreductase gene DOID:0110256 cataract 21 multiple types ISO RGD:1320534 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1059 intellectual disability ISO RGD:1320534 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1309927 Wwox WW domain-containing oxidoreductase gene DOID:10652 Alzheimer's disease ISO RGD:1320534 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 1309927 Wwox WW domain-containing oxidoreductase gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1320534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:1599874|PMID:11956080 20070220 RGD esophageal squamous cell carcinoma, OMIM:133239 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1826 epilepsy IAGP D RGD:150429974|PMID:18676360 20211021 RGD compared to wild type and heterozygotes 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1826 epilepsy IAGP D RGD:150429978|PMID:17803050 20211021 RGD compared to wild type and heterozygotes 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1826 epilepsy IAGP D RGD:150429979|PMID:19500159 20211008 RGD DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1826 epilepsy ISO RGD:1320534 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1309927 Wwox WW domain-containing oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:1320534 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1309927 Wwox WW domain-containing oxidoreductase gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 1309927 Wwox WW domain-containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 1309927 Wwox WW domain-containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:1599874|PMID:11956080 20070220 RGD esophageal squamous cell carcinoma, OMIM:133239 1309927 Wwox WW domain-containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:11956080|PMID:28492532 1309927 Wwox WW domain-containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:7240710 20180418 OMIM 1309927 Wwox WW domain-containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29808465|PMID:30356099|PMID:30853297 1309927 Wwox WW domain-containing oxidoreductase gene DOID:5419 schizophrenia ISO RGD:1320534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309927 Wwox WW domain-containing oxidoreductase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1309927 Wwox WW domain-containing oxidoreductase gene DOID:630 genetic disease ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532 1309927 Wwox WW domain-containing oxidoreductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1320534 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9000217 Stomach Neoplasms ISO RGD:1320534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9001793 Generalized Epilepsy ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24456803|PMID:25411445|PMID:25741868|PMID:27848944|PMID:28492532|PMID:31623504 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1320534 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9002563 Gait Ataxia IAGP D RGD:150429978|PMID:17803050 20211021 RGD compared to wild type and heterozygotes 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320534 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9004643 Urologic Neoplasms ISO RGD:1320534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9006534 Nervous System Malformations ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9007661 Dwarfism IAGP D RGD:150429974|PMID:18676360 20211021 RGD compared to wild type and heterozygotes 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9007661 Dwarfism IAGP D RGD:150429978|PMID:17803050 20211021 RGD compared to wild type and heterozygotes 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9007661 Dwarfism IAGP D RGD:150429979|PMID:19500159 20211008 RGD DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9008086 Developmental Disabilities ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25741868|PMID:27717089|PMID:28492532|PMID:29852413|PMID:36937954 1309927 Wwox WW domain-containing oxidoreductase gene DOID:9008939 Breast Neoplasms ISO RGD:1320534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17200365 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1320536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320536 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:13938 amenorrhea ISO RGD:1320536 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:1826 epilepsy ISO RGD:1320536 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:2717 Bloom syndrome ISO RGD:1320536 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:630 genetic disease ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:9001793 Generalized Epilepsy ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 1309928 Aven apoptosis and caspase activation inhibitor gene DOID:9256 colorectal cancer ISO RGD:1320536 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309929 Memo1 mediator of cell motility 1 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 1309929 Memo1 mediator of cell motility 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 1309929 Memo1 mediator of cell motility 1 gene DOID:630 genetic disease ISO RGD:1320537 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309929 Memo1 mediator of cell motility 1 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320537 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 1309930 Spats2l spermatogenesis associated, serine-rich 2-like gene DOID:0060224 atrial fibrillation ISO RGD:1607063 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1309930 Spats2l spermatogenesis associated, serine-rich 2-like gene DOID:0080600 COVID-19 ISO RGD:1607063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309930 Spats2l spermatogenesis associated, serine-rich 2-like gene DOID:630 genetic disease ISO RGD:1607063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309930 Spats2l spermatogenesis associated, serine-rich 2-like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1607063 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1309930 Spats2l spermatogenesis associated, serine-rich 2-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607063 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309932 Eya3 EYA transcriptional coactivator and phosphatase 3 gene DOID:630 genetic disease ISO RGD:1320540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309933 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320542 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1309933 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320542 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309933 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:630 genetic disease ISO RGD:1320542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309933 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320542 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801 1309935 Taf7 TATA-box binding protein associated factor 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320545 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1309935 Taf7 TATA-box binding protein associated factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309935 Taf7 TATA-box binding protein associated factor 7 gene DOID:630 genetic disease ISO RGD:1320545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309935 Taf7 TATA-box binding protein associated factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320545 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309935 Taf7 TATA-box binding protein associated factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309936 Ly86 lymphocyte antigen 86 gene DOID:182 calcinosis ISO RGD:1320546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1309936 Ly86 lymphocyte antigen 86 gene DOID:4079 heart valve disease ISO RGD:1320546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1309936 Ly86 lymphocyte antigen 86 gene DOID:630 genetic disease ISO RGD:1320546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309936 Ly86 lymphocyte antigen 86 gene DOID:9000998 Brain Injuries ISO RGD:1320546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 1309936 Ly86 lymphocyte antigen 86 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1309937 Usp36 ubiquitin specific peptidase 36 gene DOID:630 genetic disease ISO RGD:1320548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309938 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:7240710 20130221 OMIM 1309938 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 PMID:17701898|PMID:25741868 1309938 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:630 genetic disease ISO RGD:1320550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1309939 Sumf1 sulfatase modifying factor 1 gene DOID:0050441 mucosulfatidosis ISS RGD:1553352 D RGD:13592920 20200806 MouseDO OMIM:272200 1309939 Sumf1 sulfatase modifying factor 1 gene DOID:1927 sphingolipidosis ISO RGD:1320552 D RGD:1599192|PMID:12757705 20070119 RGD Multiple Sulfatase Deficiency Disease 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320554 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:33644825 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1320554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II PMID:12684507|PMID:28492532 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:7240710 20130221 OMIM 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:33644825 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:7240710 20170315 OMIM 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:12684507|PMID:20813212|PMID:23404334|PMID:25741868|PMID:28492532 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1320554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:12712 nephronophthisis ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:21358634|PMID:28492532 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1320554 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320554 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1309940 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1320554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309941 Htatip2 HIV-1 Tat interactive protein 2 gene DOID:1059 intellectual disability ISO RGD:1320556 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309941 Htatip2 HIV-1 Tat interactive protein 2 gene DOID:630 genetic disease ISO RGD:1320556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309941 Htatip2 HIV-1 Tat interactive protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1320556 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16799960 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320558 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28041643|PMID:32581362 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:7240710 20130221 OMIM 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 PMID:12032568|PMID:12032570|PMID:14976260|PMID:16107578|PMID:23942199|PMID:24030239|PMID:24985022|PMID:25741868|PMID:26813946|PMID:28492532|PMID:33565749|PMID:34906502|PMID:9285786 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1320558 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:630 genetic disease ISO RGD:1320558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33565749 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:896 metal metabolism disorder ISO RGD:1320558 D RGD:1599669|PMID:12032568 20070212 RGD hypomagnesemia with secondary hypocalcemia, OMIM:602014 1309942 Trpm6 transient receptor potential cation channel, subfamily M, member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1320558 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643|PMID:32581362 1309944 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1309944 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606503 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1309944 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1309944 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1606503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309944 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:7240710 20141216 OMIM 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:23562994|PMID:25741868|PMID:28492532|PMID:34964109 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0080690 RASopathy ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:1059 intellectual disability ISO RGD:1603298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:10907 microcephaly ISO RGD:1603298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:480 movement disease ISO RGD:1603298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:9000123 Deglutition Disorders ISO RGD:1603298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:9000343 Vision Disorders ISO RGD:1603298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1309946 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1603298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320564 D RGD:13451130|PMID:23767994 20171115 RGD DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human) 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0050662 bestrophinopathy ISO RGD:1320564 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:17128490|PMID:17297678|PMID:23379534|PMID:24033266|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28819299|PMID:29391521|PMID:33546218 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0050817 Stargardt disease ISO RGD:1320564 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10508521|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1320565 D RGD:8552692|PMID:17234588 20140425 RGD DNA:missense mutation: :p.C249W (mouse) 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:32295525|PMID:33342761|PMID:33546218 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10508521|PMID:11231775|PMID:12700176|PMID:12843338|PMID:15459956|PMID:16272259|PMID:17128490|PMID:17297678|PMID:18055816|PMID:19401883|PMID:20079931|PMID:20956273|PMID:22065545|PMID:23379534|PMID:23847139|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26312378|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30718709|PMID:31736247|PMID:32865313|PMID:33546218 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:7240710 20140911 OMIM 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22219627|PMID:22277662|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27258436|PMID:27353947|PMID:27375279|PMID:27380427|PMID:27628848|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:2906847|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31896775|PMID:32295525|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:36115989|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:7240710 20130425 OMIM 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17660513|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18055821|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:19763152|PMID:19956407|PMID:20065226|PMID:20079931|PMID:20301475|PMID:20307669|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22334370|PMID:22406018|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25611614|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27670293|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29391521|PMID:29641573|PMID:29844330|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31896775|PMID:32037395|PMID:32141364|PMID:32581362|PMID:32865313|PMID:32901921|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33633436|PMID:33921607|PMID:33946315|PMID:8069649|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:7240710 20130221 OMIM 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:8552694|PMID:15623792 20140425 RGD DNA:missense mutation:cds:p.V162M (human) 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:1389483|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20956273|PMID:21602930|PMID:22065545|PMID:22219627|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23591405|PMID:23592920|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24811962|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26312378|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31630094|PMID:31736247|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10508521|PMID:11389483|PMID:16272259 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8552697|PMID:20956273 20140425 RGD DNA:missense mutations, nonsense mutation:cds:multiple 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31456290|PMID:33546218|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30718709|PMID:31456290|PMID:33546218 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1320564 D RGD:1600966|PMID:10508521 20070402 RGD DNA:missense mutations 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:1059 intellectual disability ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11231775|PMID:12843338|PMID:15024725|PMID:15459956|PMID:16272259|PMID:18055816|PMID:20079931|PMID:20591486|PMID:22164218|PMID:25741868|PMID:28492532|PMID:30718709 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8552697|PMID:20956273 20140425 RGD DNA:mutations:exon:multiple 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8552785|PMID:24715753 20140429 RGD DNA:missense mutations, deletion, nonsense mutation, haplotype:exon:multiple 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31896775|PMID:32141364|PMID:33342761|PMID:33546218|PMID:33576794 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32141364|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33921607|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320565 D RGD:8552784|PMID:24339791 20140429 RGD 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320564 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:4448 macular degeneration ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10508521|PMID:11389483|PMID:12700176|PMID:15024725|PMID:15459956|PMID:17128490|PMID:17297678|PMID:20683928|PMID:20956273|PMID:22065545|PMID:23379534|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28819299|PMID:29391521|PMID:30718709|PMID:33546218 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:4448 macular degeneration ISO RGD:1320565 D RGD:8552788|PMID:24432192 20140429 RGD DNA:frameshift mutation 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:5327 retinal detachment ISO RGD:1320564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:5419 schizophrenia ISO RGD:1320564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1320564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:8501 fundus dystrophy ISO RGD:1320564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:1427914|PMID:15024725|PMID:15459956|PMID:16199547|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21757580|PMID:22065545|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32581362|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33633436|PMID:9536098 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:9006597 Retinal Dysplasia treatment ISO RGD:1320565 D RGD:8552698|PMID:24346171 20140425 RGD 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:9007488 Idiopathic Juxtafoveal Retinal Telangiectasia IAGP D RGD:13451131|PMID:25878282 20171115 RGD 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320564 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 1309947 Crb1 crumbs cell polarity complex component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320564 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309948 Tmem135 transmembrane protein 135 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603382 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1309948 Tmem135 transmembrane protein 135 gene DOID:1059 intellectual disability ISO RGD:1603382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1309948 Tmem135 transmembrane protein 135 gene DOID:1059 intellectual disability ISO RGD:1603382 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309948 Tmem135 transmembrane protein 135 gene DOID:3068 glioblastoma ISO RGD:1603382 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1309948 Tmem135 transmembrane protein 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1603382 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1309948 Tmem135 transmembrane protein 135 gene DOID:630 genetic disease ISO RGD:1603382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:0050581 brachydactyly ISO RGD:1320567 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Brachydactyly 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320567 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320567 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:13501 Moebius syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:4195 hyperglycemia ISO RGD:1320567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1320567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SIM1-associated metabolic syndrome 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1320567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:16924270|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:9970 obesity ISO RGD:1320567 D RGD:1624165|PMID:10587584 20070503 RGD DNA:translocation 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:9970 obesity ISO RGD:1320567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789 1309949 Sim1 SIM bHLH transcription factor 1 gene DOID:9970 obesity ISS RGD:1320568 D RGD:13592920 20190613 MouseDO OMIM:601665 1309950 Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1320569 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1309950 Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:7240710 20140924 OMIM 1309950 Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G PMID:15367920|PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:33131168|PMID:9536098 1309950 Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like gene DOID:630 genetic disease ISO RGD:1320569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309950 Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050589 inflammatory bowel disease ISO RGD:733483 D RGD:10449410|PMID:17111197 20151229 RGD DNA:SNP: :1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:733483 D RGD:6893517|PMID:17712558 20120904 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050830 peripheral artery disease susceptibility ISO RGD:733483 D RGD:6893659|PMID:16274479 20120917 RGD associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:733483 D RGD:8693343|PMID:20162297 20140711 RGD DNA:polymorphism: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:10449416|PMID:16365753 20151229 RGD DNA:missense mutation:cds:677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0050873 follicular lymphoma ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060041 autism spectrum disorder ISO RGD:733483 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060058 lymphoma ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060326 myelomeningocele ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16602021 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:733483 D RGD:11565105|PMID:22868813 20161121 RGD DNA:SNP: : rs1801133(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0060903 thrombosis no_association ISO RGD:733483 D RGD:10449414|PMID:10780318 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0070004 myeloid neoplasm ISO RGD:733483 D RGD:10449419|PMID:23107469 20151229 RGD DNA:SNPs: :677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida ISO RGD:733483 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27713094 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida no_association ISO RGD:733483 D RGD:11565178|PMID:15022402 20161122 RGD DNA:polymorphism: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida severity ISO RGD:733483 D RGD:11565104|PMID:12797455 20161121 RGD DNA:polymorphism: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:733483 D RGD:6893455|PMID:10791559 20120829 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23056169 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect ISO RGD:733483 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect susceptibility ISO RGD:733483 D RGD:11565102|PMID:8826441 20161121 RGD DNA:polymorphism: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:733483 D RGD:14696752|PMID:24583625 20190723 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080178 mucositis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:733483 D RGD:14696706|PMID:24488901 20190716 RGD DNA:SNP: :1298A > C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:733483 D RGD:14696748|PMID:17563923 20190723 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16518429 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease treatment ISO RGD:733483 D RGD:6893635|PMID:19005482 20120913 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10196703|PMID:10323741|PMID:10440833|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16199547|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10024 migraine with aura susceptibility ISO RGD:733483 D RGD:7387244|PMID:21635773 20131024 RGD DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10159 osteonecrosis no_association ISO RGD:733483 D RGD:10449417|PMID:9840906 20151229 RGD associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10283 prostate cancer ISO RGD:733483 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10534 stomach cancer no_association ISO RGD:733483 D RGD:38501052|PMID:24615072 20200813 RGD DNA:missense mutation:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10534 stomach cancer no_association ISO RGD:733483 D RGD:38501056|PMID:23183616 20200814 RGD DNA:missense mutation:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10548 cardia cancer no_association ISO RGD:733483 D RGD:38501052|PMID:24615072 20200813 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1059 intellectual disability ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12733064|PMID:25736335|PMID:25741868|PMID:28492532|PMID:7726158 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10652 Alzheimer's disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma no_association ISO RGD:733483 D RGD:7387254|PMID:17558844 20131024 RGD DNA:SNPs: : 677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:733483 D RGD:7387252|PMID:15808177 20131024 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1074 kidney failure ISO RGD:733483 D RGD:6893515|PMID:20433440 20120904 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:733483 D RGD:7387224|PMID:22065928 20131023 RGD DNA:SNP:cds:rs1801133(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:10449403|PMID:22924497 20151229 RGD DNA:SNP: :1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:10449420|PMID:20113291 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia severity ISO RGD:733483 D RGD:10449403|PMID:22924497 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:733483 D RGD:11565109|PMID:21819229 20161121 RGD DNA:SNP: :1298A>C,677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:733483 D RGD:11565107|PMID:21897766 20161121 RGD DNA:polymorphism: :1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22747749 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer no_association ISO RGD:733483 D RGD:6893597|PMID:17311259 20120912 RGD protein:missense mutation:cds:p.A222V (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:6893457|PMID:22126575 20100315 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:6893516|PMID:20146887 20120904 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:6893521|PMID:19837268 20120905 RGD DNA:transversion:cds:g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11166 papillomavirus infectious disease no_association ISO RGD:733483 D RGD:38501058|PMID:23444906 20200814 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome ISO RGD:733483 D RGD:10449395|PMID:12221667 20151228 RGD DNA:transition: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:733483 D RGD:11537993|PMID:26238013 20190723 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11664 nephrosclerosis ISO RGD:733483 D RGD:6893469|PMID:21613384 20120830 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:733483 D RGD:14696705|PMID:27221722 20190716 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:733483 D RGD:14696749|PMID:25987440 20190723 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11713 diabetic angiopathy ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16681562 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:11836 clubfoot ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16936070 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1205 allergic disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16766537 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency no_association ISO RGD:733483 D RGD:10449409|PMID:22411997 20151229 RGD DNA:SNP: :1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency severity ISO RGD:733483 D RGD:10449409|PMID:22411997 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1227 neutropenia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:12336 male infertility ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:12336 male infertility susceptibility ISO RGD:733483 D RGD:11565106|PMID:16247718 20161121 RGD :DNA:polymorphism: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:12361 Graves' disease susceptibility ISO RGD:733483 D RGD:7387246|PMID:20941748 20131024 RGD DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19267885 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16958597|PMID:25050994 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:1580585|PMID:12187094 19990101 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:13001 carotid stenosis ISO RGD:733483 D RGD:5509914|PMID:15748240 20111111 RGD DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:733483 D RGD:7387250|PMID:19936026 20131024 RGD DNA:SNPs: :677C>T,1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:733483 D RGD:14696749|PMID:25987440 20190723 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome susceptibility ISO RGD:733483 D RGD:11565177|PMID:16489479 20161122 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:14330 Parkinson's disease ISO RGD:733483 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30726997 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1459 hypothyroidism IEP D RGD:6893690|PMID:7990714 20120918 RGD protein:decreased activity:liver (rat) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:10449418|PMID:23498762 20151229 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia no_association ISO RGD:733483 D RGD:10449418|PMID:23498762 20151229 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1596 depressive disorder ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1682 congenital heart disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16524890 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:10449405|PMID:23289804 20151229 RGD DNA:SNP: :1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:10449421|PMID:24250697 20151229 RGD DNA:missense mutation:cds:677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:733483 D RGD:7387256|PMID:10485556 20131024 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:6893580|PMID:17627246 20120910 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:178 vascular disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19646848 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:733483 D RGD:2317120|PMID:16737574 20100315 RGD DNA:polymorphism: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1936 atherosclerosis severity ISO RGD:733483 D RGD:6893579|PMID:17899317 20120917 RGD associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:1984 rectal benign neoplasm severity ISO RGD:733483 D RGD:6893664|PMID:21865946 20120917 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B no_association ISO RGD:733483 D RGD:38508898|PMID:18222012 20200819 RGD DNA:missense mutations:cds:g.1298A>C, g.2756A>G 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B susceptibility ISO RGD:733483 D RGD:38508898|PMID:18222012 20200819 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2154 nephroblastoma susceptibility ISO RGD:733483 D RGD:6893546|PMID:19346876 20120906 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2316 brain ischemia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2355 anemia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19391036|PMID:25007187 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2355 anemia susceptibility ISO RGD:733483 D RGD:11080979|PMID:25007187 20160520 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2388 renal artery disease ISO RGD:733483 D RGD:2313876|PMID:16760910 20140522 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:10449396|PMID:16570355 20151228 RGD associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:733483 D RGD:6893477|PMID:21046286 20120831 RGD DNA:transversion:cds:g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2841 asthma ISO RGD:733483 D RGD:4891145|PMID:20456312 20110110 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2921 glomerulonephritis ISO RGD:733483 D RGD:6893468|PMID:22111818 20120830 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:733483 D RGD:38501050|PMID:28543752 20200813 RGD DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3021 acute kidney failure ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17387702 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:319 spinal cord disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16361298 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:326 ischemia susceptibility ISO RGD:733483 D RGD:7387251|PMID:17719079 20131024 RGD associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3312 bipolar disorder ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:733483 D RGD:11565173|PMID:21868135 20161122 RGD DNA:polymorphism: :c.677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:733483 D RGD:11565111|PMID:21128869 20161121 RGD DNA:polymorphism: :c.677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3347 osteosarcoma treatment ISO RGD:733483 D RGD:6893634|PMID:19159907 20120913 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease no_association ISO RGD:733483 D RGD:1580579|PMID:15648053 19990101 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:6893453|PMID:12387655 20120829 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3526 cerebral infarction ISO RGD:733483 D RGD:1580590|PMID:10929044 19990101 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:3572 intracranial sinus thrombosis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:37 skin disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:409 liver disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16877991 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:4247 coronary restenosis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16489563 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:4362 cervical cancer susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:g.1298A>C (human) PMID:27771518|REF_RGD_ID:38501051 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:733483 D RGD:6893654|PMID:18098291 20120917 RGD DNA:missense mutation:cds:p.A222V (rs1801133) (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:733483 D RGD:6893632|PMID:20039875 20120913 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma susceptibility ISO RGD:733483 D RGD:6893474|PMID:21489764 20120831 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:733483 D RGD:2317119|PMID:17201138 20100315 RGD DNA:polymorphism (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5082 liver cirrhosis susceptibility ISO RGD:733483 D RGD:14696749|PMID:25987440 20190723 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5409 lung small cell carcinoma severity ISO RGD:733483 D RGD:4891158|PMID:17533396 20110110 RGD protein:missense mutation:cds:p.A222V (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16641680|PMID:17074966|PMID:18583979 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER | ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10677336|PMID:10679944|PMID:10923034|PMID:10958762|PMID:11590551|PMID:11742092|PMID:11752418|PMID:11938441|PMID:12560871|PMID:12673793|PMID:12733064|PMID:15048559|PMID:15103709|PMID:15543147|PMID:15951337|PMID:16199547|PMID:16244782|PMID:18523009|PMID:18583979|PMID:19810817|PMID:21778025|PMID:25079578|PMID:25227144|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:27743313|PMID:28492532|PMID:28514598|PMID:29246599|PMID:33089527|PMID:34214447|PMID:7726158|PMID:7920641|PMID:9545395 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia susceptibility ISO RGD:733483 D RGD:6893466|PMID:16172608 20120830 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:557 kidney disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18551038 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5614 eye disease susceptibility ISO RGD:733483 D RGD:7387241|PMID:16299146 20131024 RGD associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5679 retinal disease ISO RGD:1551392 D RGD:7387239|PMID:20532821 20131024 RGD 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction ISO RGD:733483 D RGD:10449412|PMID:10090925 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction susceptibility ISO RGD:733483 D RGD:6893548|PMID:19272686 20120906 RGD associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:61 mitral valve disease susceptibility ISO RGD:733483 D RGD:11537145|PMID:26813460 20210303 RGD associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:615 leukopenia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:630 genetic disease ISO RGD:733483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25736335|PMID:25741868|PMID:28492532 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:6364 migraine susceptibility ISO RGD:733483 D RGD:7387244|PMID:21635773 20131024 RGD DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:733483 D RGD:11565105|PMID:22868813 20161121 RGD DNA:SNP: : rs1801133(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733483 D RGD:14696704|PMID:23996892 20190716 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma onset ISO RGD:733483 D RGD:14696707|PMID:19035314 20190716 RGD DNA:SNP: :1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:14696703|PMID:17503006 20190716 RGD DNA:SNP,haplotype: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:14696708|PMID:17659576 20190716 RGD DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:733483 D RGD:42722610|PMID:25060515 20210303 RGD DNA:SNP:cds:677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22104130 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:7387222|PMID:23685257 20131023 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:74 hematopoietic system disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7693 abdominal aortic aneurysm ISO RGD:733483 D RGD:6893584|PMID:17398378 20120911 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:77 gastrointestinal system disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease ISO RGD:733483 D RGD:14696732|PMID:25664255 20190722 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease no_association ISO RGD:733483 D RGD:6893523|PMID:19520069 20120905 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease severity ISO RGD:733483 D RGD:6893524|PMID:14737040 20120905 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:6893522|PMID:19520684 20120905 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:6893579|PMID:17899317 20120910 RGD DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:784 chronic kidney disease susceptibility ISO RGD:733483 D RGD:7244284|PMID:23595572 20130531 RGD DNA:polymorphism:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7997 thyrotoxicosis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:7998 hyperthyroidism IEP D RGD:6893690|PMID:7990714 20120918 RGD protein:increased activity:liver (rat) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8029 sporadic breast cancer no_association ISO RGD:733483 D RGD:38501055|PMID:28330681 20200814 RGD DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:83 cataract susceptibility ISO RGD:733483 D RGD:7387253|PMID:16310481 20131024 RGD DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8552 chronic myeloid leukemia ISO RGD:733483 D RGD:10449408|PMID:17156840 20151229 RGD DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:863 nervous system disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8725 vascular dementia ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8736 smallpox treatment ISO RGD:733483 D RGD:42722608|PMID:18454680 20210303 RGD DNA:SNP:exon:rs1801133(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8778 Crohn's disease ISO RGD:733483 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28002332 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:733483 D RGD:6893525|PMID:9040583 20120905 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733483 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9000027 Microsatellite Instability ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17350979 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9000217 Stomach Neoplasms ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18505952|PMID:21347786 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9000217 Stomach Neoplasms ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:10196703|PMID:10323741|PMID:10440833|PMID:10732818|PMID:10869114|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9000326 Thrombotic Microangiopathies susceptibility ISO RGD:733483 D RGD:6893633|PMID:19448163 20120913 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9000528 Coronary Disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16792904 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17704422 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001542 Albuminuria susceptibility ISO RGD:733483 D RGD:6893631|PMID:22554825 20120913 RGD associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24726568|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27527345|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31462756|PMID:31870219|PMID:32161077|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:3347350|PMID:34015165|PMID:34214447|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:733483 D RGD:7240710 20230505 OMIM 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:733483 D RGD:6893576|PMID:18280442 20120910 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:733483 D RGD:6893524|PMID:14737040 20120905 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002269 Mthfr Deficiency, Thermolabile Type ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17967524 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002704 Leukoencephalopathies ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:25741868 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9002928 Colonic Neoplasms ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284371 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism ISO RGD:733483 D RGD:10449399|PMID:25207100 20151228 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism no_association ISO RGD:733483 D RGD:10449399|PMID:25207100 20151228 RGD DNA:SNP: :677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:733483 D RGD:10755472|PMID:18685811 20190723 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16275406 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:7387236|PMID:20798492 20131024 RGD DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss no_association ISO RGD:733483 D RGD:7387240|PMID:16572609 20131024 RGD DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:733483 D RGD:7387243|PMID:15775757 20131024 RGD DNA:SNPs:cds:677C>T,1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:1580590|PMID:10929044 19990101 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:10449394|PMID:12442281 20151228 RGD DNA:transition: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:6893655|PMID:10792297 20120917 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:733483 D RGD:6893602|PMID:22707612 20120912 RGD associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:733483 D RGD:7387225|PMID:21385350 20131023 RGD DNA:SNP:cds:677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16832597 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733483 D RGD:14696732|PMID:25664255 20190722 RGD DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9005172 Lung Neoplasms ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17389614 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9005236 Drug Eruptions ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6893689|PMID:9836532 20120918 RGD protein:decreased activity:kidney (rat) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9005695 Malnutrition ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9005749 Necrosis ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733483 D RGD:42722609|PMID:19609317 20210303 RGD 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ameliorates ISO RGD:1551392 D RGD:42722609|PMID:19609317 20210303 RGD 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006332 Vascular Calcification severity ISO RGD:733483 D RGD:6893475|PMID:21394321 20120831 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:733483 D RGD:10449401|PMID:10477457 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:733483 D RGD:10449413|PMID:21984221 20151229 RGD DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:733483 D RGD:10449413|PMID:21984221 20151229 RGD DNA:SNP: :1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175|PMID:16681562|PMID:19646848 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:6893467|PMID:15652605 20120830 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007096 Stroke no_association ISO RGD:733483 D RGD:10449417|PMID:9840906 20151229 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18551038|PMID:19648163 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:733483 D RGD:14696733|PMID:30545275 20190722 RGD associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16679164 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions ISO RGD:733483 D RGD:10449404|PMID:22047507 20151229 RGD DNA:SNPs: :677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions ISO RGD:733483 D RGD:10449415|PMID:22882325 20151229 RGD DNA:SNPs: :677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions no_association ISO RGD:733483 D RGD:10449411|PMID:19906129 20151229 RGD DNA:SNP: :1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:733483 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007617 Conotruncal Cardiac Defects no_association ISO RGD:733483 D RGD:11565174|PMID:12705333 20161122 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007715 Endometrial Neoplasms ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17301261 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007908 Aortic Coarctation ISO RGD:733483 D RGD:4891157|PMID:19764075 20110110 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24384392 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008086 Developmental Disabilities ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:733483 D RGD:38501056|PMID:23183616 20200814 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:733483 D RGD:38501057|PMID:20957490 20200814 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:733483 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17491230 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:4891159|PMID:17491230 20110110 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:733483 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:16777985|PMID:17595805|PMID:28114181 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9119 acute myeloid leukemia ISO RGD:733483 D RGD:10449408|PMID:17156840 20151229 RGD DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:916 liver benign neoplasm onset IEP D RGD:6893663|PMID:22213190 20120917 RGD mRNA:decreased expression:liver (rat) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:1601421|PMID:10679944 20120828 RGD DNA:missense mutations, nonsense mutations:CDS:multiple (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:733483 D RGD:10449400|PMID:12471611 20151228 RGD associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9296 cleft lip ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470725 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9296 cleft lip susceptibility ISO RGD:733483 D RGD:11565179|PMID:27387868 20161122 RGD DNA:polymorphism: :c.677C>T(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9351 diabetes mellitus no_association ISO RGD:733483 D RGD:38501049|PMID:9607212 20200813 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733483 D RGD:6893653|PMID:19996639 20120917 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:6893476|PMID:21186995 20120831 RGD DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:6893657|PMID:16828193 20120917 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9406 hypopituitarism ISO RGD:733483 D RGD:10449406|PMID:21107737 20151229 RGD DNA:SNPs: :677C>T, 1298A>C(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9452 fatty liver disease ISO RGD:733483 D RGD:1580580|PMID:15834927 19990101 RGD associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9477 pulmonary embolism ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9538 multiple myeloma ISO RGD:733483 D RGD:10449397|PMID:24839819 20151228 RGD DNA:missense mutations:cds:677C>T, 1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9663 aphthous stomatitis severity ISO RGD:733483 D RGD:10449402|PMID:23665953 20151229 RGD DNA:missense mutation:cds:677C>T (rs1801133) (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:733483 D RGD:6893652|PMID:18774994 20120917 RGD DNA:transversion:cds:g.1298A>C (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9849 Meniere's disease susceptibility ISO RGD:733483 D RGD:7387223|PMID:23484733 20131023 RGD DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:987 alopecia ISO RGD:733483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733483 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:733483 D RGD:10449398|PMID:19923983 20151228 RGD DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) 1309952 Mthfr methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:733483 D RGD:10449407|PMID:21644011 20151229 RGD DNA:missense mutation:cds:677C>T (human) 1309953 Tgs1 trimethylguanosine synthase 1 gene DOID:630 genetic disease ISO RGD:1320573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309954 Pon2 paraoxonase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320575 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1309954 Pon2 paraoxonase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:8661257|PMID:22536512 20140610 RGD 1309954 Pon2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:1580219|PMID:11803456 19990101 RGD DNA:missense mutation:cds:p.C311S (human) 1309954 Pon2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:5509926|PMID:16319130 20111111 RGD DNA:SNPs:multiple 1309954 Pon2 paraoxonase 2 gene DOID:1287 cardiovascular system disease ISO RGD:1320575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19152805 1309954 Pon2 paraoxonase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1320575 D RGD:1642625|PMID:16776623 20071004 RGD DNA:missense mutation:cds:p.S311C (human) 1309954 Pon2 paraoxonase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320575 D RGD:5509925|PMID:16822964 20111111 RGD DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) 1309954 Pon2 paraoxonase 2 gene DOID:3393 coronary artery disease severity ISO RGD:1320575 D RGD:1580217|PMID:12454802 19990101 RGD DNA:missense mutation:cds:p.C311S (human) 1309954 Pon2 paraoxonase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320575 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309954 Pon2 paraoxonase 2 gene DOID:630 genetic disease ISO RGD:1320575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309954 Pon2 paraoxonase 2 gene DOID:8725 vascular dementia ISO RGD:1320575 D RGD:1580219|PMID:11803456 19990101 RGD DNA:missense mutation:cds:p.C311S (human) 1309954 Pon2 paraoxonase 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1320575 D RGD:1580216|PMID:9443862 19990101 RGD DNA:missense mutation:cds:p.C311S (human) 1309954 Pon2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:1580218|PMID:11918623 19990101 RGD associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human) 1309954 Pon2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:2313492|PMID:11206400 20090929 RGD associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple 1309954 Pon2 paraoxonase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1320575 D RGD:8661240|PMID:23327886 20140610 RGD DNA:SNPs: :multiple 1309954 Pon2 paraoxonase 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1320575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 1309954 Pon2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:1642614|PMID:17406108 20071003 RGD large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human) 1309954 Pon2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:2313491|PMID:12778447 20090929 RGD associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human) 1309954 Pon2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:2313490|PMID:18776646 20090929 RGD DNA:missense mutation:cds:p.S311C (human) 1309954 Pon2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:8547560|PMID:10677395 20140610 RGD associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human) 1309954 Pon2 paraoxonase 2 gene DOID:9970 obesity IEP D RGD:8661255|PMID:21365757 20140610 RGD protein:increased expression:white adipose tissue 1309955 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:2717 Bloom syndrome ISO RGD:1320576 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309955 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:3320 Tay-Sachs disease ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1309955 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:630 genetic disease ISO RGD:1320576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309955 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320576 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1309955 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:9256 colorectal cancer ISO RGD:1320576 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309956 Nuak1 NUAK family kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1605098 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1309956 Nuak1 NUAK family kinase 1 gene DOID:630 genetic disease ISO RGD:1605098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309956 Nuak1 NUAK family kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1605098 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26213588|PMID:26873845 1309956 Nuak1 NUAK family kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1605098 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26873845 1309957 Utp18 UTP18 small subunit processome component gene DOID:630 genetic disease ISO RGD:1349005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309958 Rab6b RAB6B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309958 Rab6b RAB6B, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320580 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1309959 Tada2a transcriptional adaptor 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1320582 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1309959 Tada2a transcriptional adaptor 2A gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1320582 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1309959 Tada2a transcriptional adaptor 2A gene DOID:12849 autistic disorder ISO RGD:1320582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1309959 Tada2a transcriptional adaptor 2A gene DOID:5419 schizophrenia ISO RGD:1320582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1309959 Tada2a transcriptional adaptor 2A gene DOID:630 genetic disease ISO RGD:1320582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309959 Tada2a transcriptional adaptor 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320582 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309959 Tada2a transcriptional adaptor 2A gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1320582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 1309961 Arrdc1 arrestin domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309961 Arrdc1 arrestin domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1309961 Arrdc1 arrestin domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1320585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1309961 Arrdc1 arrestin domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1309961 Arrdc1 arrestin domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1320585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1309961 Arrdc1 arrestin domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1309961 Arrdc1 arrestin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1320585 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1309961 Arrdc1 arrestin domain containing 1 gene DOID:630 genetic disease ISO RGD:1320585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309961 Arrdc1 arrestin domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1309962 Schip1 schwannomin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309965 Tbcb tubulin folding cofactor B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1309965 Tbcb tubulin folding cofactor B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1309965 Tbcb tubulin folding cofactor B gene DOID:630 genetic disease ISO RGD:1320593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309965 Tbcb tubulin folding cofactor B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1309966 Mcee methylmalonyl CoA epimerase gene DOID:14749 methylmalonic acidemia ISO RGD:1320595 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia 1309966 Mcee methylmalonyl CoA epimerase gene DOID:543 dystonia ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1309966 Mcee methylmalonyl CoA epimerase gene DOID:630 genetic disease ISO RGD:1320595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 1309966 Mcee methylmalonyl CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:7240710 20130221 OMIM 1309966 Mcee methylmalonyl CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:17823972|PMID:22522443|PMID:23542699|PMID:24033266|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 1309967 Limd2 LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1603297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309967 Limd2 LIM domain containing 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1603297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 1309967 Limd2 LIM domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1603297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1320598 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:25741868 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1320598 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:25741868 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:1389 polyneuropathy ISO RGD:1320598 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2747 glycogen storage disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:15452297|PMID:16199547|PMID:17662246|PMID:19813197|PMID:20058079|PMID:22305237|PMID:23218673|PMID:23352160|PMID:24033266|PMID:25489661|PMID:25741868|PMID:26166723|PMID:26886200|PMID:28492532|PMID:28507268|PMID:29379554|PMID:30569318 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:1601279|PMID:8613547 20070413 RGD DNA:deletion,DNA:point mutations:Y329S,L224P,R515C,F257L,R524X 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:7240710 20130221 OMIM 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:10384399|PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:12913206|PMID:15019703|PMID:15452297|PMID:15520786|PMID:16199547|PMID:16278887|PMID:16528737|PMID:16874838|PMID:17576681|PMID:17662246|PMID:17915577|PMID:17994551|PMID:18230843|PMID:18661138|PMID:19438752|PMID:19763152|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20307669|PMID:20479904|PMID:20655781|PMID:21075835|PMID:21917543|PMID:22106711|PMID:22305237|PMID:22406018|PMID:22899091|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25489661|PMID:25525159|PMID:25544507|PMID:25640679|PMID:25665141|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26752647|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27546458|PMID:27747161|PMID:28492532|PMID:28507268|PMID:28716262|PMID:28973083|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30311141|PMID:30345254|PMID:30569318|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31589614|PMID:31680123|PMID:31747834|PMID:31980526|PMID:32455116|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33344388|PMID:33517539|PMID:33782433|PMID:34426522|PMID:34946936|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320598 D RGD:18337291|PMID:28355295 20200121 RGD DNA:SNP:intron:rs2307058 (human) 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:630 genetic disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762170|PMID:11949934|PMID:20058079|PMID:20301758|PMID:24248152|PMID:25356970|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26199317|PMID:28492532|PMID:33782433|PMID:8613547 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9000820 GSD IV, Classic Hepatic ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC PMID:10384399|PMID:10762170|PMID:11949934|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:33332610|PMID:8613547|PMID:9536098|PMID:9851430 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001038 GSD IV, Neuromuscular Form, Congenital ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL PMID:15019703|PMID:15452297|PMID:16528737|PMID:17576681|PMID:17662246|PMID:17915577|PMID:20058079|PMID:22305237|PMID:25741868|PMID:26199317|PMID:27546458|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:8059607|PMID:8613547|PMID:9536098 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001655 GSD IV, Neuromuscular Form, Childhood ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD PMID:15452297|PMID:20058079|PMID:25525159|PMID:25741868|PMID:26166723|PMID:26886200|PMID:27243974|PMID:28492532|PMID:33332610|PMID:8613547 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006655 GSD IV, Neuromuscular Form, Fatal Perinatal ISO RGD:1320598 D RGD:18337290|PMID:30303820 20200121 RGD DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006655 GSD IV, Neuromuscular Form, Fatal Perinatal ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal PMID:10384399|PMID:15452297|PMID:16199547|PMID:20058079|PMID:28492532|PMID:8247964 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006915 GSD IV, combined hepatic and myopathic ISO RGD:1320598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic PMID:10545044|PMID:10762170|PMID:12874416|PMID:15452297|PMID:20301758|PMID:20479904|PMID:25741868|PMID:28492532 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:7240710 20141015 OMIM 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adult polyglucosan body disease | ClinVar Annotator: match by term: Adult polyglucosan body neuropathy | ClinVar Annotator: match by term: Polyglucosan body disease, adult form PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20479904|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25489661|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27747161|PMID:28492532|PMID:28507268|PMID:28716262|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30569318|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31680123|PMID:31980526|PMID:32455116|PMID:33141444|PMID:33332610|PMID:33782433|PMID:34426522|PMID:34946936|PMID:8613547|PMID:9536098|PMID:9851430 1309968 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:10384399|PMID:10762170|PMID:11949934|PMID:15019703|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:33332610|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 1309969 Prr5l proline rich 5 like gene DOID:1059 intellectual disability ISO RGD:1605618 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309969 Prr5l proline rich 5 like gene DOID:630 genetic disease ISO RGD:1605618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20180811 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:0060180 colitis ISO RGD:1320602 D RGD:5687963|PMID:15309552 20120215 RGD protein:increased expression:colon, epithelial cell (mouse) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:14330 Parkinson's disease ISO RGD:1320601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:14330 Parkinson's disease ISO RGD:1320602 D RGD:5687772|PMID:20964710 20120214 RGD mRNA:increased expression:striatum (mouse) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:2349 arteriosclerosis ISO RGD:1320601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15064094|PMID:20177342 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:630 genetic disease ISO RGD:1320601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5687769|PMID:22160604 20120214 RGD mRNA:increased expression:lumbar segment of spinal cord (rat) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:9685568|PMID:23075396 20151009 RGD 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5687773|PMID:14693714 20120214 RGD protein:increased expression:pancreas, kidney, liver (rat) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320601 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:1320602 D RGD:5687774|PMID:22038048 20120214 RGD 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9007692 Insulin Resistance ISO RGD:1320601 D RGD:5687771|PMID:20150287 20120214 RGD mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9007730 Burns ISO RGD:1320601 D RGD:5687774|PMID:22038048 20120214 RGD mRNA:altered expression:fat, muscle, skin (human) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9007730 Burns ISO RGD:1320602 D RGD:5687774|PMID:22038048 20120214 RGD mRNA:decreased expression:gastrocnemius muscle (mouse) 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9008691 Liver Injury IEP D RGD:10401911|PMID:23159886 20151009 RGD mRNA, protein:increased expression:liver 1309970 Gsta4 glutathione S-transferase alpha 4 gene DOID:9970 obesity ISO RGD:1320602 D RGD:5687771|PMID:20150287 20120214 RGD mRNA:decreased expression:gonadal fat pad (mouse) 1309971 Slc45a4 solute carrier family 45, member 4 gene DOID:630 genetic disease ISO RGD:1607016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309973 Fam174a family with sequence similarity 174, member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309973 Fam174a family with sequence similarity 174, member A gene DOID:630 genetic disease ISO RGD:1601696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309973 Fam174a family with sequence similarity 174, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601696 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309973 Fam174a family with sequence similarity 174, member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1309973 Fam174a family with sequence similarity 174, member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309975 Tlr1 toll-like receptor 1 gene DOID:1024 leprosy ISO RGD:1320607 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1309975 Tlr1 toll-like receptor 1 gene DOID:1024 leprosy ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 PMID:17475868|PMID:17548585|PMID:18461142|PMID:19456232|PMID:23105135|PMID:26729809 1309975 Tlr1 toll-like receptor 1 gene DOID:1024 leprosy susceptibility ISO RGD:1320607 D RGD:7240710 20190502 OMIM 1309975 Tlr1 toll-like receptor 1 gene DOID:1024 leprosy susceptibility ISO RGD:1320607 D RGD:7246917|PMID:17548585 20130624 RGD DNA:snp:cds:p.I602S (human) 1309975 Tlr1 toll-like receptor 1 gene DOID:11400 pyelonephritis susceptibility ISO RGD:1320607 D RGD:7246906|PMID:19543401 20130621 RGD DNA:snp:cds:p.S602I (human) 1309975 Tlr1 toll-like receptor 1 gene DOID:13564 aspergillosis susceptibility ISO RGD:1320607 D RGD:4889535|PMID:16461792 20101203 RGD DNA:SNPs: :p.R80T, p.N248S (human) 1309975 Tlr1 toll-like receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1320607 D RGD:4889528|PMID:18547625 20101203 RGD DNA:SNP (human) 1309975 Tlr1 toll-like receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1320608 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 1309975 Tlr1 toll-like receptor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320607 D RGD:4889525|PMID:16493059 20101203 RGD mRNA:increased expression:blood 1309975 Tlr1 toll-like receptor 1 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1320607 D RGD:7246898|PMID:21108742 20130620 RGD DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human) 1309975 Tlr1 toll-like receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1320607 D RGD:7246918|PMID:18091991 20130621 RGD DNA:snps, haplotype:cds:p.N248S, p.S602I (human) 1309975 Tlr1 toll-like receptor 1 gene DOID:630 genetic disease ISO RGD:1320607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309975 Tlr1 toll-like receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320607 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:32594150 1309975 Tlr1 toll-like receptor 1 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20101203 RGD mRNA:increased expression:ileum 1309975 Tlr1 toll-like receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1320608 D RGD:7246886|PMID:21970496 20130619 RGD mRNA:increased expression:spinal cord (mouse) 1309975 Tlr1 toll-like receptor 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1320608 D RGD:7246886|PMID:21970496 20130619 RGD 1309975 Tlr1 toll-like receptor 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1309975 Tlr1 toll-like receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1320607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 1309975 Tlr1 toll-like receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1320607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1350674 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:1059 intellectual disability ISO RGD:1350674 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:10907 microcephaly ISO RGD:1350674 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:14557 primary pulmonary hypertension ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1350674 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1350674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28191889|PMID:28492532|PMID:9536098 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:11528248|PMID:26545877 20170712 RGD DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human) 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:7240710 20190315 OMIM 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:25741873|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532|PMID:28708303|PMID:29430593|PMID:30167850|PMID:30771478|PMID:31130284|PMID:31607746|PMID:31839005|PMID:32712949|PMID:9536098 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350674 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:24033266|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1309976 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:936 brain disease ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:26708753 1309977 Mon1b MON1 homolog B, secretory trafficking associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605088 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 1309977 Mon1b MON1 homolog B, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1605088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309978 Frrs1l ferric-chelate reductase 1-like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:7240710 20190315 OMIM 1309978 Frrs1l ferric-chelate reductase 1-like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21147040|PMID:22406018|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:30525197|PMID:30692144|PMID:32860008|PMID:32928027|PMID:9536098 1309978 Frrs1l ferric-chelate reductase 1-like gene DOID:1826 epilepsy ISO RGD:1346527 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21147040|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:32860008|PMID:32928027 1309978 Frrs1l ferric-chelate reductase 1-like gene DOID:630 genetic disease ISO RGD:1346527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309979 Ddrgk1 DDRGK domain containing 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1309979 Ddrgk1 DDRGK domain containing 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1309979 Ddrgk1 DDRGK domain containing 1 gene DOID:630 genetic disease ISO RGD:1320614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309979 Ddrgk1 DDRGK domain containing 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532 1309979 Ddrgk1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:7240710 20190315 OMIM 1309979 Ddrgk1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type PMID:25741868|PMID:28263186|PMID:28492532|PMID:8357004 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0060041 autism spectrum disorder ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30504930 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:7240710 20170419 OMIM 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26763879|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:28708303|PMID:31782611|PMID:31981491|PMID:33098347|PMID:33277917|PMID:34529370|PMID:9862965 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0080422 Dravet syndrome ISO RGD:1320615 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:1320615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 PMID:25741868 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0111940 immunodeficiency 42 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:1059 intellectual disability ISO RGD:1320615 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:1540 parathyroid carcinoma ISO RGD:1320615 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:5812 MHC class II deficiency ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:630 genetic disease ISO RGD:1320615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20562864|PMID:21518873|PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:31782611|PMID:31981491|PMID:33277917|PMID:9862965 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9003133 Hypertelorism ISO RGD:1320615 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320615 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320615 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26942287|PMID:28492532|PMID:31782611|PMID:31981491 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9007661 Dwarfism ISO RGD:1320615 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Short stature 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9008086 Developmental Disabilities ISO RGD:1320615 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320615 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1309980 Pogz pogo transposable element derived with ZNF domain gene DOID:9970 obesity ISO RGD:1320615 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Obesity 1309981 Zscan21 zinc finger and SCAN domain containing 21 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320617 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1309981 Zscan21 zinc finger and SCAN domain containing 21 gene DOID:630 genetic disease ISO RGD:1320617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:28492532 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:1936 atherosclerosis ISO RGD:1320619 D RGD:10054381|PMID:18508286 20150805 RGD protein:increased expression:internal carotid artery, smooth muscle cell (human) 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:4362 cervical cancer ISO RGD:1320619 D RGD:10054394|PMID:19319956 20150805 RGD protein:increased expression:cervical epithelium (human) 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:630 genetic disease ISO RGD:1320619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:9004610 Acute Lung Injury ISO RGD:1320620 D RGD:10054390|PMID:19029002 20150805 RGD protein:altered localization:lung (mouse) 1309982 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320619 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1309983 Gramd4 GRAM domain containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604385 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1309983 Gramd4 GRAM domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1604385 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1309983 Gramd4 GRAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309986 Rcc2 regulator of chromosome condensation 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603393 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1309986 Rcc2 regulator of chromosome condensation 2 gene DOID:10283 prostate cancer ISO RGD:1603393 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1309986 Rcc2 regulator of chromosome condensation 2 gene DOID:630 genetic disease ISO RGD:1603393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309987 Hook1 hook microtubule-tethering protein 1 gene DOID:1059 intellectual disability ISO RGD:1320626 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1309987 Hook1 hook microtubule-tethering protein 1 gene DOID:630 genetic disease ISO RGD:1320626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309990 Uhrf2 ubiquitin like with PHD and ring finger domains 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1309990 Uhrf2 ubiquitin like with PHD and ring finger domains 2 gene DOID:630 genetic disease ISO RGD:1320632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309992 Nosip nitric oxide synthase interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1309992 Nosip nitric oxide synthase interacting protein gene DOID:4621 holoprosencephaly ISS RGD:1320637 D RGD:13592920 20210603 MouseDO 1309992 Nosip nitric oxide synthase interacting protein gene DOID:630 genetic disease ISO RGD:1320636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309993 Tbc1d14 TBC1 domain family, member 14 gene DOID:630 genetic disease ISO RGD:1320638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309994 Myo5c myosin VC gene DOID:2717 Bloom syndrome ISO RGD:1320640 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1309994 Myo5c myosin VC gene DOID:303 substance-related disorder ISO RGD:1320640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1309994 Myo5c myosin VC gene DOID:607 paraplegia ISO RGD:1320640 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1309994 Myo5c myosin VC gene DOID:630 genetic disease ISO RGD:1320640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309994 Myo5c myosin VC gene DOID:9256 colorectal cancer ISO RGD:1320640 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1309995 Washc4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:7240710 20140911 OMIM 1309995 Washc4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 PMID:21498477|PMID:25741868|PMID:28492532|PMID:31953988|PMID:34599609 1309995 Washc4 WASH complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603694 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1309995 Washc4 WASH complex subunit 4 gene DOID:9169 Wiskott-Aldrich syndrome ISS RGD:1320642 D RGD:13592920 20211104 MouseDO OMIM:301000 1309996 Ermap erythroblast membrane associated protein (Scianna blood group) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1320643 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1309996 Ermap erythroblast membrane associated protein (Scianna blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:1320643 D RGD:8554872 20180320 ClinVar ClinVar Annotator: match by term: Radin blood group PMID:12393480 1309996 Ermap erythroblast membrane associated protein (Scianna blood group) gene DOID:630 genetic disease ISO RGD:1320643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320645 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320645 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:7240710 20190315 OMIM 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:10652 Alzheimer's disease ISO RGD:1320645 D RGD:13792588|PMID:28474567 20181106 RGD 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:3652 Leigh disease ISO RGD:1320645 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:630 genetic disease ISO RGD:1320645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000918 Disease Progression ISO RGD:1320645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320645 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1309997 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1309999 Ptgr3 prostaglandin reductase 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1309999 Ptgr3 prostaglandin reductase 3 gene DOID:630 genetic disease ISO RGD:1320648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1309999 Ptgr3 prostaglandin reductase 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1309999 Ptgr3 prostaglandin reductase 3 gene DOID:8445 intestinal volvulus ISO RGD:1320648 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1309999 Ptgr3 prostaglandin reductase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320648 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1309999 Ptgr3 prostaglandin reductase 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320648 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1310000 Cideb cell death-inducing DFFA-like effector b gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1310000 Cideb cell death-inducing DFFA-like effector b gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:increased expression:liver (rat) 1310000 Cideb cell death-inducing DFFA-like effector b gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 1310000 Cideb cell death-inducing DFFA-like effector b gene DOID:630 genetic disease ISO RGD:1320650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310000 Cideb cell death-inducing DFFA-like effector b gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320650 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1310000 Cideb cell death-inducing DFFA-like effector b gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310001 Hoxa9 homeobox A9 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1320652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome 1310001 Hoxa9 homeobox A9 gene DOID:11054 urinary bladder cancer ISO RGD:1320652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 1310001 Hoxa9 homeobox A9 gene DOID:1909 melanoma ISO RGD:1320652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 1310001 Hoxa9 homeobox A9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320652 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310001 Hoxa9 homeobox A9 gene DOID:630 genetic disease ISO RGD:1320652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310001 Hoxa9 homeobox A9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1320652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 1310001 Hoxa9 homeobox A9 gene DOID:9119 acute myeloid leukemia ISO RGD:1320652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22541086 1310005 Sbno1 strawberry notch homolog 1 gene DOID:10283 prostate cancer ISO RGD:1320657 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310005 Sbno1 strawberry notch homolog 1 gene DOID:5419 schizophrenia ISO RGD:1320657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1310005 Sbno1 strawberry notch homolog 1 gene DOID:630 genetic disease ISO RGD:1320657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310005 Sbno1 strawberry notch homolog 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320657 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 1310006 Dph6 diphthamine biosynthesis 6 gene DOID:2717 Bloom syndrome ISO RGD:1603188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310006 Dph6 diphthamine biosynthesis 6 gene DOID:630 genetic disease ISO RGD:1603188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310006 Dph6 diphthamine biosynthesis 6 gene DOID:9256 colorectal cancer ISO RGD:1603188 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310007 Rragd Ras-related GTP binding D gene DOID:630 genetic disease ISO RGD:1320660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310007 Rragd Ras-related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:7240710 20221214 OMIM 1310007 Rragd Ras-related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy PMID:34607910 1310008 Dbndd1 dysbindin domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1310008 Dbndd1 dysbindin domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1310008 Dbndd1 dysbindin domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1310008 Dbndd1 dysbindin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310010 Ppfibp1 PPFIA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35830857 1310010 Ppfibp1 PPFIA binding protein 1 gene DOID:1826 epilepsy ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35830857 1310010 Ppfibp1 PPFIA binding protein 1 gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1320664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 1310010 Ppfibp1 PPFIA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310010 Ppfibp1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:7240710 20221116 OMIM 1310010 Ppfibp1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities PMID:25741868|PMID:35830857 1310011 Mixl1 Mix paired-like homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320666 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310011 Mixl1 Mix paired-like homeobox 1 gene DOID:630 genetic disease ISO RGD:1320666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310011 Mixl1 Mix paired-like homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320666 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320668 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:0080942 anauxetic dysplasia ISO RGD:1320668 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1320668 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320668 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:630 genetic disease ISO RGD:1320668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310012 Tmem8b transmembrane protein 8B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1320668 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310012 Tmem8b transmembrane protein 8B gene DOID:9870 galactosemia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11978605|PMID:12468279|PMID:15108290|PMID:20301745|PMID:25741868|PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0080600 COVID-19 ISO RGD:1320669 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320669 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:7240710 20190315 OMIM 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 PMID:10330338|PMID:10360771|PMID:11004438|PMID:15269216|PMID:17275378|PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:1059 intellectual disability ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3312 bipolar disorder ISO RGD:1320669 D RGD:6484696|PMID:20368511 20120702 RGD protein:decreased expression:prefrontal cortex (human) 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3652 Leigh disease ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1320669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:630 genetic disease ISO RGD:1320669 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 1310013 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0050952 spastic ataxia ISO RGD:1606204 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:32707086|PMID:33970200 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:16557584|PMID:17949294|PMID:19806110|PMID:25820570|PMID:28492532 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606204 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:7240710 20201007 OMIM 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive PMID:25741868|PMID:32707086|PMID:33970200 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:1289 neurodegenerative disease ISS RGD:1332429 D RGD:13592920 20230406 MouseDO 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:607 paraplegia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:630 genetic disease ISO RGD:1606204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:7240710 20201216 OMIM 1310014 Hpdl 4-hydroxyphenylpyruvate dioxygenase-like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:25741868|PMID:32707086|PMID:33188300|PMID:33634263|PMID:33970200|PMID:9084927|PMID:9973289 1310015 Cd7 Cd7 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1310015 Cd7 Cd7 molecule gene DOID:630 genetic disease ISO RGD:1320672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310015 Cd7 Cd7 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310015 Cd7 Cd7 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1320672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1310016 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1310016 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:1826 epilepsy ISO RGD:1320674 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1310016 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1320674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310016 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:7240710 20200226 OMIM 1310016 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Catifa syndrome PMID:25741868|PMID:27878435|PMID:31932796 1310017 Arhgap12 Rho GTPase activating protein 12 gene DOID:0080600 COVID-19 ISO RGD:1320676 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1310017 Arhgap12 Rho GTPase activating protein 12 gene DOID:630 genetic disease ISO RGD:1320676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310019 Hnrnph3 heterogeneous nuclear ribonucleoprotein H3 gene DOID:630 genetic disease ISO RGD:1320680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310020 Gsx1 GS homeobox 1 gene DOID:630 genetic disease ISO RGD:1320681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310022 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:13938 amenorrhea ISO RGD:1320685 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310022 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:2717 Bloom syndrome ISO RGD:1320685 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310022 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:630 genetic disease ISO RGD:1320685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310022 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:9256 colorectal cancer ISO RGD:1320685 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310024 Otud6b OTU deubiquitinase 6B gene DOID:1826 epilepsy ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 1310024 Otud6b OTU deubiquitinase 6B gene DOID:630 genetic disease ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 1310024 Otud6b OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:7240710 20190315 OMIM 1310024 Otud6b OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32181568|PMID:32924626 1310025 Gtpbp8 GTP-binding protein 8 (putative) gene DOID:630 genetic disease ISO RGD:1606015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310026 Cstf2t cleavage stimulation factor subunit 2, tau variant gene DOID:630 genetic disease ISO RGD:1320690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310026 Cstf2t cleavage stimulation factor subunit 2, tau variant gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1320690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:25640679|PMID:28492532 1310027 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:0080600 COVID-19 ISO RGD:1349772 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310027 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:1059 intellectual disability ISO RGD:1349772 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310027 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:28492532 1310027 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:630 genetic disease ISO RGD:1349772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310028 Cimap1a ciliary microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:1320693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310030 Sptlc3 serine palmitoyltransferase, long chain base subunit 3 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1351339 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:23806086|PMID:24088041|PMID:26257172 1310030 Sptlc3 serine palmitoyltransferase, long chain base subunit 3 gene DOID:630 genetic disease ISO RGD:1351339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0050847 sleep apnea ISO RGD:1603658 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Sleep apnea syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0050952 spastic ataxia ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1603658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1603658 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:25741868|PMID:29696776|PMID:33644933 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:7240710 20140911 OMIM 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:25741869|PMID:27148574|PMID:28135719|PMID:28492532|PMID:29230160|PMID:29696776|PMID:30152016|PMID:30858058|PMID:31474318|PMID:33372375|PMID:33644933|PMID:35716097|PMID:4067559 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1603658 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:1059 intellectual disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:28492532 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:630 genetic disease ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24791903|PMID:25741868|PMID:27148574|PMID:28135719|PMID:28492532|PMID:28518168|PMID:29696776|PMID:30152016|PMID:30729726|PMID:32461654|PMID:33644933|PMID:35716097 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603658 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603658 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 1310031 Ahdc1 AT hook, DNA binding motif, containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1603658 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320698 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1320698 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation PMID:25741868 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:630 genetic disease ISO RGD:1320698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9000340 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM ISO RGD:1320698 D RGD:7240710 20211027 OMIM 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9000340 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM ISO RGD:1320698 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum PMID:25741868|PMID:31924697 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320698 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310032 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9565 dextrocardia ISO RGD:1320698 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Dextrocardia 1310033 Moxd1 monooxygenase, DBH-like 1 gene DOID:630 genetic disease ISO RGD:1320700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310035 Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:2717 Bloom syndrome ISO RGD:1320703 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310035 Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:630 genetic disease ISO RGD:1320703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310035 Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:9256 colorectal cancer ISO RGD:1320703 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310037 Eeig2 EEIG family member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1310037 Eeig2 EEIG family member 2 gene DOID:12849 autistic disorder ISO RGD:1603518 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310037 Eeig2 EEIG family member 2 gene DOID:630 genetic disease ISO RGD:1603518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310037 Eeig2 EEIG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603518 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310038 Sox7 SRY-box transcription factor 7 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:1320708 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 1310038 Sox7 SRY-box transcription factor 7 gene DOID:630 genetic disease ISO RGD:1320707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310038 Sox7 SRY-box transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320707 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310039 Spata6l spermatogenesis associated 6-like gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1310039 Spata6l spermatogenesis associated 6-like gene DOID:630 genetic disease ISO RGD:1320709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310040 Npas1 neuronal PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:1320711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310041 Foxl2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:7240710 20130425 OMIM 1310041 Foxl2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 3 PMID:12149404|PMID:12161610|PMID:19429596|PMID:25741868|PMID:29378385 1310041 Foxl2 forkhead box L2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1320713 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:24728327 1310041 Foxl2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:11554173 20190305 CTD CTD Direct Evidence: marker/mechanism PMID:16283882 1310041 Foxl2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:1598958|PMID:11175783 20070108 RGD DNA:mutations:multiple (human) 1310041 Foxl2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:7240710 20130515 OMIM 1310041 Foxl2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome PMID:11175783|PMID:11468277|PMID:11776388|PMID:12149404|PMID:12161610|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:18635577|PMID:18642388|PMID:19010791|PMID:19429596|PMID:19515849|PMID:22159675|PMID:22312189|PMID:23441113|PMID:25741868|PMID:27914838|PMID:28492532|PMID:28849110|PMID:31048069|PMID:31077882|PMID:33796131 1310041 Foxl2 forkhead box L2 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1320713 D RGD:151667913|PMID:32517588 20220412 RGD mRNA:increased expression:larynx (human) 1310041 Foxl2 forkhead box L2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320713 D RGD:13503323|PMID:23599765 20220412 RGD DNA:hypermethylation: (human) 1310041 Foxl2 forkhead box L2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1320713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1310041 Foxl2 forkhead box L2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320713 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327 1310041 Foxl2 forkhead box L2 gene DOID:630 genetic disease ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310041 Foxl2 forkhead box L2 gene DOID:9000058 Keloid ISO RGD:1320713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 1310041 Foxl2 forkhead box L2 gene DOID:9003489 Blepharophimosis Syndrome Type 1 ISO RGD:1320713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16219626|PMID:20429427|PMID:21889601 1310041 Foxl2 forkhead box L2 gene DOID:9003489 Blepharophimosis Syndrome Type 1 ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12567411|PMID:12630957|PMID:12938087|PMID:16219626|PMID:17089161|PMID:18372316|PMID:25741868|PMID:28492532|PMID:28849110|PMID:31048069 1310041 Foxl2 forkhead box L2 gene DOID:9007148 Blepharophimosis Syndrome Type 2 ISO RGD:1320713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:21325395|PMID:25741868|PMID:28492532 1310041 Foxl2 forkhead box L2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1320713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1310041 Foxl2 forkhead box L2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:1320713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:25741868 1310043 Armc7 armadillo repeat containing 7 gene DOID:630 genetic disease ISO RGD:1347915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310044 Itgb3bp integrin subunit beta 3 binding protein gene DOID:1059 intellectual disability ISO RGD:1320718 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1310044 Itgb3bp integrin subunit beta 3 binding protein gene DOID:289 endometriosis ISO RGD:1320718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1310044 Itgb3bp integrin subunit beta 3 binding protein gene DOID:630 genetic disease ISO RGD:1320718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310045 Ttc14 tetratricopeptide repeat domain 14 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1320720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:21131972|PMID:23255504|PMID:24033266|PMID:25741868|PMID:28492532 1310045 Ttc14 tetratricopeptide repeat domain 14 gene DOID:0111546 Currarino syndrome ISO RGD:1320720 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1310045 Ttc14 tetratricopeptide repeat domain 14 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1320720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1310045 Ttc14 tetratricopeptide repeat domain 14 gene DOID:630 genetic disease ISO RGD:1320720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310045 Ttc14 tetratricopeptide repeat domain 14 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1320720 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 1310045 Ttc14 tetratricopeptide repeat domain 14 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:21131972|PMID:23255504|PMID:23891469|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33005176|PMID:9536098 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:10763 hypertension IMP D RGD:9685162|PMID:23185005 20171010 RGD 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:11383 cryptorchidism IMP D RGD:13434925|PMID:24983376 20201210 RGD 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:11383 cryptorchidism IMP D RGD:38548917|PMID:32037220 20201210 RGD 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:12336 male infertility IMP D RGD:13434925|PMID:24983376 20171010 RGD 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:12336 male infertility IMP D RGD:38548917|PMID:32037220 20201210 RGD 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:630 genetic disease ISO RGD:1320722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310046 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1320722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 1310047 Calml5 calmodulin-like 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320724 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1310047 Calml5 calmodulin-like 5 gene DOID:10652 Alzheimer's disease ISO RGD:1320724 D RGD:13792493|PMID:11470324 20180911 RGD protein:altered expression:neuron,glia 1310047 Calml5 calmodulin-like 5 gene DOID:5419 schizophrenia ISO RGD:1320724 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310047 Calml5 calmodulin-like 5 gene DOID:630 genetic disease ISO RGD:1320724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1603185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0050144 Kartagener syndrome ISS RGD:1331977 D RGD:13592920 20180518 MouseDO 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:7240710 20160720 OMIM 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32111882|PMID:9536098 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1603185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603185 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1603185 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 1310048 Odad3 outer dynein arm docking complex subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 1310051 Lpo lactoperoxidase gene DOID:0050777 Joubert syndrome ISO RGD:1320729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1310051 Lpo lactoperoxidase gene DOID:1059 intellectual disability ISO RGD:1320729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1310051 Lpo lactoperoxidase gene DOID:630 genetic disease ISO RGD:1320729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310052 B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310052 B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1310052 B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310052 B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 gene DOID:630 genetic disease ISO RGD:1602277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310053 Ndfip1 Nedd4 family interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310053 Ndfip1 Nedd4 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310053 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320732 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310053 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1310053 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310053 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9007096 Stroke IEP D RGD:6893327|PMID:22417925 20120823 RGD 1310054 Qtrt2 queuine tRNA-ribosyltransferase accessory subunit 2 gene DOID:630 genetic disease ISO RGD:1320734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310055 Prdm15 PR/SET domain 15 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1310055 Prdm15 PR/SET domain 15 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1310055 Prdm15 PR/SET domain 15 gene DOID:630 genetic disease ISO RGD:1320736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310055 Prdm15 PR/SET domain 15 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320736 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1310055 Prdm15 PR/SET domain 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320736 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310055 Prdm15 PR/SET domain 15 gene DOID:9263 homocystinuria ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1310055 Prdm15 PR/SET domain 15 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0050834 CHARGE syndrome ISS RGD:1616514 D RGD:13592920 20180518 MouseDO OMIM:214800 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320737 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:23708187|PMID:24207121|PMID:25741868|PMID:25783594|PMID:28492532|PMID:29358611 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:7240710 20210421 OMIM 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:15955779|PMID:15988005|PMID:16199547|PMID:17576681|PMID:22178256|PMID:23020937|PMID:23708187|PMID:24207121|PMID:24614520|PMID:24932903|PMID:25262651|PMID:25326635|PMID:25363768|PMID:25384982|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26615199|PMID:26754451|PMID:26795593|PMID:27781031|PMID:27824329|PMID:28074849|PMID:28166811|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28960266|PMID:29358611|PMID:29720203|PMID:29740950|PMID:29933521|PMID:30525188|PMID:30564305|PMID:30868116|PMID:31031587|PMID:31170314|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:32005694|PMID:32238909|PMID:33004838|PMID:33176815|PMID:33619735|PMID:9326634|PMID:9536098 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1320737 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9326634|PMID:9536098 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28492532|PMID:31785789|PMID:33004838|PMID:9326634|PMID:9536098 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:10907 microcephaly ISO RGD:1320737 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Microcephaly 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1826 epilepsy ISO RGD:1320737 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:23708187|PMID:29942082 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1826 epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:28960266 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:3307 teratoma ISO RGD:1320737 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320737 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320737 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15955779|PMID:15988005|PMID:17576681|PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26073591|PMID:26467025|PMID:26615199|PMID:26795593|PMID:28074849|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29358611|PMID:30564305|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:8232556|PMID:9326634|PMID:9536098|PMID:9565609 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320737 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320737 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320737 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23708187|PMID:24207121|PMID:24614520|PMID:25326635|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:30525188|PMID:31677157 1310056 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1320737 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome 1310057 Eaf1 ELL associated factor 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1320738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1310057 Eaf1 ELL associated factor 1 gene DOID:630 genetic disease ISO RGD:1320738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310058 Stx18 syntaxin 18 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320740 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1310058 Stx18 syntaxin 18 gene DOID:630 genetic disease ISO RGD:1320740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310059 Cers2 ceramide synthase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310059 Cers2 ceramide synthase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310059 Cers2 ceramide synthase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310059 Cers2 ceramide synthase 2 gene DOID:11446 sciatic neuropathy IEP D RGD:11041067|PMID:22393241 20220426 RGD mRNA,protein:decreased expression:sciatic nerve: 1310059 Cers2 ceramide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320742 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310059 Cers2 ceramide synthase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310059 Cers2 ceramide synthase 2 gene DOID:630 genetic disease ISO RGD:1320742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310059 Cers2 ceramide synthase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320742 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1310059 Cers2 ceramide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320742 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310060 Myom3 myomesin 3 gene DOID:630 genetic disease ISO RGD:1320744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310060 Myom3 myomesin 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1310060 Myom3 myomesin 3 gene DOID:9006836 Contracture ISO RGD:1320744 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1310061 Arglu1 arginine and glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1605984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310061 Arglu1 arginine and glutamate rich 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605984 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1310062 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:0080600 COVID-19 ISO RGD:1320747 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1310062 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:2377 multiple sclerosis ISO RGD:1320747 D RGD:14390079|PMID:25216636 20190219 RGD mRNA:increased expression:white matter 1310062 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1320747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310062 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1310062 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310063 Gmps guanine monophosphate synthase gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320749 D RGD:1598998|PMID:11110714 20070110 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes 1310063 Gmps guanine monophosphate synthase gene DOID:630 genetic disease ISO RGD:1320749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310063 Gmps guanine monophosphate synthase gene DOID:684 hepatocellular carcinoma IEP D RGD:5135537|PMID:6861338 20110726 RGD protein:increased activity:hepatoma (rat) 1310063 Gmps guanine monophosphate synthase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135485|PMID:3043317 20110722 RGD protein:increased activity:liver (rat) 1310063 Gmps guanine monophosphate synthase gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1320749 D RGD:1598998|PMID:11110714 20070110 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes 1310064 Rbks ribokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1320751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1310064 Rbks ribokinase gene DOID:630 genetic disease ISO RGD:1320751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310065 Cr2 complement C3d receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1310065 Cr2 complement C3d receptor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 1310065 Cr2 complement C3d receptor 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1320753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:16199547|PMID:17576681|PMID:22035880|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26325596|PMID:28492532|PMID:28499783|PMID:29148534|PMID:29867916|PMID:34426522|PMID:9536098 1310065 Cr2 complement C3d receptor 2 gene DOID:0081150 common variable immunodeficiency 7 susceptibility ISO RGD:1320753 D RGD:7240710 20230517 OMIM 1310065 Cr2 complement C3d receptor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320753 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1310065 Cr2 complement C3d receptor 2 gene DOID:12849 autistic disorder ISO RGD:1320753 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310065 Cr2 complement C3d receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320753 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310065 Cr2 complement C3d receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320753 D RGD:127338249|PMID:8442917 20210706 RGD protein:decreased expression:B cell 1310065 Cr2 complement C3d receptor 2 gene DOID:5434 scrapie ISO RGD:1320754 D RGD:127285805|PMID:29202042 20210630 RGD 1310065 Cr2 complement C3d receptor 2 gene DOID:630 genetic disease ISO RGD:1320753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310065 Cr2 complement C3d receptor 2 gene DOID:8469 influenza exacerbates ISO RGD:1320754 D RGD:127338248|PMID:19388171 20210706 RGD 1310065 Cr2 complement C3d receptor 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11343913|PMID:26502875 20210706 RGD protein:increased expression:cerebrospinal fluid 1310065 Cr2 complement C3d receptor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310065 Cr2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1320753 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 PMID:24033266|PMID:25741868|PMID:28492532 1310065 Cr2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1320754 D RGD:127285806|PMID:9233655 20210630 RGD protein:decreased expression:B cell 1310065 Cr2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1320753 D RGD:7240710 20230517 OMIM 1310065 Cr2 complement C3d receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320753 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310065 Cr2 complement C3d receptor 2 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1320753 D RGD:127338247|PMID:23612877 20210706 RGD DNA:SNP:5'UTR:24T>C (rs3813946)(human) 1310066 R3hdm2 R3H domain containing 2 gene DOID:630 genetic disease ISO RGD:1605089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310066 R3hdm2 R3H domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1310066 R3hdm2 R3H domain containing 2 gene DOID:6846 familial melanoma ISO RGD:1605089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1310066 R3hdm2 R3H domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310067 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISS RGD:1552490 D RGD:13592920 20190725 MouseDO 1310067 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345810 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1310067 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1345810 D RGD:2302550|PMID:17726579 20081229 RGD esophageal 1310067 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1345810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310068 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:630 genetic disease ISO RGD:1320757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310068 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:8445 intestinal volvulus ISO RGD:1320757 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1310068 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1320757 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1310068 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320757 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1310069 Iqcb1 IQ motif containing B1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:15723066|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23847139|PMID:24033266|PMID:24625443|PMID:25741868|PMID:28041643|PMID:28492532 1310069 Iqcb1 IQ motif containing B1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1310069 Iqcb1 IQ motif containing B1 gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1320759 D RGD:11352374|PMID:22183348 20161003 RGD 1310069 Iqcb1 IQ motif containing B1 gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1320759 D RGD:11537386|PMID:21857984 20161003 RGD 1310069 Iqcb1 IQ motif containing B1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:12366518 D RGD:9068941 20230504 OMIA Cone-rod dystrophy 2 PMID:15064680|PMID:22065099|PMID:24045995|PMID:27506978|PMID:30050836|PMID:33781914|PMID:34954206 1310069 Iqcb1 IQ motif containing B1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22261762|PMID:22773737|PMID:25741868|PMID:28492532|PMID:30718709 1310069 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:11537341|PMID:18076122 20160929 RGD DNA:deletion, nonsense mutations, splice-site mutation:exon, intron:multiple 1310069 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 1310069 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 1310069 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 1310069 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27506978|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:30718709|PMID:32531858|PMID:9536098 1310069 Iqcb1 IQ motif containing B1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320759 D RGD:11537384|PMID:21220633 20161003 RGD DNA:deletions, nonsense mutations:cds:multiple 1310069 Iqcb1 IQ motif containing B1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320759 D RGD:11537385|PMID:21901789 20161003 RGD DNA:nonsense mutation:splice-site mutation:cds, intron:p.Y493X (c.1479C>A), c.1130-1G>C (human) 1310069 Iqcb1 IQ motif containing B1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15723066|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:24625443|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562 1310069 Iqcb1 IQ motif containing B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320759 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 1310069 Iqcb1 IQ motif containing B1 gene DOID:630 genetic disease ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310069 Iqcb1 IQ motif containing B1 gene DOID:8501 fundus dystrophy ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25741868|PMID:25851290|PMID:26673778|PMID:28041643|PMID:28492532|PMID:28832562|PMID:29053603|PMID:29068479 1310069 Iqcb1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:11537383|PMID:15723066 20161003 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple 1310069 Iqcb1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:7240710 20130221 OMIM 1310069 Iqcb1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25741868|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 1310069 Iqcb1 IQ motif containing B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320759 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1310069 Iqcb1 IQ motif containing B1 gene DOID:9270 alkaptonuria ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1320761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1320761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:0111621 Temtamy syndrome ISO RGD:1320761 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:630 genetic disease ISO RGD:1320761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:9000217 Stomach Neoplasms ISO RGD:1320761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:9000918 Disease Progression ISO RGD:1320761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310070 Cops7a COP9 signalosome subunit 7A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1320761 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1310071 Rbm39 RNA binding motif protein 39 gene DOID:630 genetic disease ISO RGD:1320763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310073 Tmc2 transmembrane channel-like 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320766 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1310073 Tmc2 transmembrane channel-like 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1310073 Tmc2 transmembrane channel-like 2 gene DOID:630 genetic disease ISO RGD:1320766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310074 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:7240710 20170503 OMIM 1310074 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 PMID:25741868|PMID:25865492|PMID:27130255|PMID:27860360|PMID:28492532 1310074 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:10907 microcephaly ISO RGD:1320768 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1310074 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310074 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:630 genetic disease ISO RGD:1320768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310074 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320768 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310075 Vnn1 vanin 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1320770 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17145956 1310075 Vnn1 vanin 1 gene DOID:10608 celiac disease ISO RGD:1320770 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1310075 Vnn1 vanin 1 gene DOID:3310 atopic dermatitis ISO RGD:1320770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 1310075 Vnn1 vanin 1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1320770 D RGD:151660329|PMID:32663515 20220303 RGD protein:increased expression:blood (human) 1310075 Vnn1 vanin 1 gene DOID:630 genetic disease ISO RGD:1320770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310075 Vnn1 vanin 1 gene DOID:8893 psoriasis ISO RGD:1320770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 1310075 Vnn1 vanin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1320770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17873875 1310077 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:12361 Graves' disease ISO RGD:1320774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 1310077 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1320774 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310077 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1320774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310077 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1320774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 1310078 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11807405|PMID:17129779|PMID:17446347|PMID:19740703|PMID:20301716|PMID:20686069|PMID:21489556|PMID:22345511|PMID:25741868|PMID:27664775|PMID:28492532 1310078 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1320776 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 1310078 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320776 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1310078 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:630 genetic disease ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 1310079 Sema3b semaphorin 3B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1310079 Sema3b semaphorin 3B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1310079 Sema3b semaphorin 3B gene DOID:630 genetic disease ISO RGD:1320778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310079 Sema3b semaphorin 3B gene DOID:769 neuroblastoma ISO RGD:1320778 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17452250 1310079 Sema3b semaphorin 3B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320778 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1310079 Sema3b semaphorin 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320778 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310079 Sema3b semaphorin 3B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320778 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 1310079 Sema3b semaphorin 3B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310080 Ccdc116 coiled-coil domain containing 116 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1310080 Ccdc116 coiled-coil domain containing 116 gene DOID:11198 DiGeorge syndrome ISO RGD:1602289 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1310080 Ccdc116 coiled-coil domain containing 116 gene DOID:1324 lung cancer ISO RGD:1602289 D RGD:153297750|PMID:29193083 20220721 RGD DNA:SNP:promoter:rs3747093 (human) 1310080 Ccdc116 coiled-coil domain containing 116 gene DOID:630 genetic disease ISO RGD:1602289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10488899|PMID:20301500|PMID:21679365|PMID:22236771|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25407461|PMID:25741868|PMID:25846457|PMID:25877302|PMID:26092869|PMID:28492532|PMID:29605658 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:7240710 20171011 OMIM 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25846457|PMID:25920555|PMID:26092869|PMID:27081551|PMID:27158779|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:9536098 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1606513 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1320782 D RGD:11537349|PMID:25877302 20160930 RGD DNA:missense mutation: :p.S235P (mouse) 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:7240710 20140911 OMIM 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:10488899|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25558065|PMID:25741868|PMID:25877302|PMID:25920555|PMID:26092869|PMID:26096313|PMID:26477546|PMID:27081551|PMID:27158779|PMID:27166760|PMID:27434533|PMID:28087721|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:31980526|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:9536098 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24178751|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:22693042|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:33176815 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28087721|PMID:28125082|PMID:28431631|PMID:28492532|PMID:34008892 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868|PMID:28492532 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21679365|PMID:22236771|PMID:22425360|PMID:23012439|PMID:24178751|PMID:25407461|PMID:25846457|PMID:28492532 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606513 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004898 Jaundice ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jaundice PMID:24178751|PMID:25407461|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 1310081 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24178751|PMID:25407461|PMID:25558065|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 1310083 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:1059 intellectual disability ISO RGD:1320784 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310083 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1320784 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1310083 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:630 genetic disease ISO RGD:1320784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310083 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320784 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310084 Dok4 docking protein 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1310084 Dok4 docking protein 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1310084 Dok4 docking protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1310084 Dok4 docking protein 4 gene DOID:630 genetic disease ISO RGD:1320786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310087 Fktn fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:11537476|PMID:11445638 20170109 RGD 1310087 Fktn fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:7240710 20130221 OMIM 1310087 Fktn fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:34008892|PMID:35131284|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:11062579|PMID:10545611 20170109 RGD DNA:missense mutation, nonsense mutation, insertions: :multiple 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:11576320|PMID:19266496 20170109 RGD DNA:insertion:exon:c.1167insA (human) 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:1598929|PMID:9690476 20070103 RGD 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32746448|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320792 D RGD:11537406|PMID:24824861 20170111 RGD 1310087 Fktn fukutin gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISS RGD:1320792 D RGD:13592920 20220602 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 1310087 Fktn fukutin gene DOID:0050700 cardiomyopathy ISO RGD:1320791 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532 1310087 Fktn fukutin gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1320791 D RGD:11576328|PMID:17044012 20170110 RGD DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) 1310087 Fktn fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:7240710 20130221 OMIM 1310087 Fktn fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 1310087 Fktn fukutin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1320791 D RGD:11576324|PMID:17036286 20170109 RGD DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human) 1310087 Fktn fukutin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:28492532|PMID:32969603|PMID:33048919|PMID:34120883 1310087 Fktn fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:7240710 20130425 OMIM 1310087 Fktn fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X PMID:10545611|PMID:11153909|PMID:11165248|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:22037554|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:27065010|PMID:27124789|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28798025|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31862442|PMID:31983221|PMID:35131284|PMID:9690476 1310087 Fktn fukutin gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:7240710 20130221 OMIM 1310087 Fktn fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 1310087 Fktn fukutin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320791 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:22037554|PMID:25741868|PMID:28492532 1310087 Fktn fukutin gene DOID:12930 dilated cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17597323|PMID:25741868|PMID:26633542|PMID:28492532 1310087 Fktn fukutin gene DOID:630 genetic disease ISO RGD:1320791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18752264|PMID:21520333|PMID:22275357|PMID:25741868|PMID:26467025|PMID:28492532 1310087 Fktn fukutin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320791 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26467025|PMID:28492532 1310087 Fktn fukutin gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:34008892|PMID:35131284|PMID:9536098|PMID:9690476 1310087 Fktn fukutin gene DOID:9008086 Developmental Disabilities ISO RGD:1320791 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1310087 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:11070464|PMID:20961758 20170109 RGD DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple 1310087 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16531417 1310087 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:11576323|PMID:19179078 20170109 RGD DNA:missense mutations, nonsense mutation:exon:multiple 1310087 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:11576325|PMID:19342235 20170109 RGD DNA:missense mutations:exon:c.340G>A, c.527T>C (human) 1310087 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:11576326|PMID:10852541 20170109 RGD 1310088 Atp6v1g1 ATPase H+ transporting V1 subunit G1 gene DOID:630 genetic disease ISO RGD:1320793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310089 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310089 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310089 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310089 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345026 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1310089 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:630 genetic disease ISO RGD:1345026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310090 Dusp26 dual specificity phosphatase 26 gene DOID:630 genetic disease ISO RGD:1604602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310091 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310091 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1320797 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type PMID:30804514 1310091 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1320797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310091 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320797 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 1310092 Nipal1 NIPA-like domain containing 1 gene DOID:630 genetic disease ISO RGD:1602833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310093 Dhx58 DEXH-box helicase 58 gene DOID:630 genetic disease ISO RGD:1603964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310094 Thap6 THAP domain containing 6 gene DOID:630 genetic disease ISO RGD:1320801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310094 Thap6 THAP domain containing 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320801 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:14250 Down syndrome ISO RGD:1320803 D RGD:11570562|PMID:12054546 20161220 RGD protein:decreased expression:cerebral cortex (human) 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:2843 long QT syndrome ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:630 genetic disease ISO RGD:1320803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35047857 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:8893 psoriasis ISS RGD:1320804 D RGD:13592920 20190822 MouseDO OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:9000955 Acute Otitis Media ISO RGD:8803523 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320803 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:7240710 20221214 OMIM 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities PMID:35047857 1310096 Arpc4 actin related protein 2/3 complex, subunit 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1320803 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1310097 Rnf111 ring finger protein 111 gene DOID:2717 Bloom syndrome ISO RGD:1320805 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310097 Rnf111 ring finger protein 111 gene DOID:630 genetic disease ISO RGD:1320805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310097 Rnf111 ring finger protein 111 gene DOID:9256 colorectal cancer ISO RGD:1320805 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310099 Rbm8a RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366785 1310099 Rbm8a RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:7240710 20130731 OMIM 1310099 Rbm8a RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:16501574|PMID:17236129|PMID:17576681|PMID:22366785|PMID:22581968|PMID:23754559|PMID:24033266|PMID:24053387|PMID:24220582|PMID:25741868|PMID:26136524|PMID:26233629|PMID:27320760|PMID:27846804|PMID:28129423|PMID:28492532|PMID:28857120|PMID:32227665|PMID:34355501|PMID:9536098 1310099 Rbm8a RNA binding motif protein 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1320809 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310099 Rbm8a RNA binding motif protein 8A gene DOID:5419 schizophrenia ISO RGD:1320809 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310099 Rbm8a RNA binding motif protein 8A gene DOID:630 genetic disease ISO RGD:1320809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310099 Rbm8a RNA binding motif protein 8A gene DOID:9008086 Developmental Disabilities ISO RGD:1320809 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22366785|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28857120 1310099 Rbm8a RNA binding motif protein 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320809 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310101 Tor3a torsin family 3, member A gene DOID:1540 parathyroid carcinoma ISO RGD:1320812 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310101 Tor3a torsin family 3, member A gene DOID:630 genetic disease ISO RGD:1320812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310101 Tor3a torsin family 3, member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320812 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1310101 Tor3a torsin family 3, member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320812 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310102 Hnf4g hepatocyte nuclear factor 4, gamma gene DOID:630 genetic disease ISO RGD:1320814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310103 Ttyh1 tweety family member 1 gene DOID:630 genetic disease ISO RGD:1320816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310105 Trim27 tripartite motif-containing 27 gene DOID:11372 megacolon ISO RGD:1320820 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310105 Trim27 tripartite motif-containing 27 gene DOID:630 genetic disease ISO RGD:1320820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310108 Fbxo34 F-box protein 34 gene DOID:630 genetic disease ISO RGD:1320823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310109 Napg NSF attachment protein gamma gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320824 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1310109 Napg NSF attachment protein gamma gene DOID:1059 intellectual disability ISO RGD:1320824 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310109 Napg NSF attachment protein gamma gene DOID:543 dystonia ISO RGD:1320824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1310109 Napg NSF attachment protein gamma gene DOID:630 genetic disease ISO RGD:1320824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310111 Aspdh aspartate dehydrogenase domain containing gene DOID:630 genetic disease ISO RGD:1605752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:1349345 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:25741868|PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:10907 microcephaly ISO RGD:1349345 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:11193 syndactyly ISO RGD:1349345 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:2340 craniosynostosis ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:630 genetic disease ISO RGD:1349345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349345 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:7240710 20190315 OMIM 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:26573021|PMID:28492532|PMID:34326120 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9269 maple syrup urine disease ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1310112 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:1059 intellectual disability ISO RGD:1320828 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320828 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320828 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:630 genetic disease ISO RGD:1320828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310113 Tnk1 tyrosine kinase, non-receptor, 1 gene DOID:9255 frontotemporal dementia ISO RGD:1320828 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 1310114 Mtap methylthioadenosine phosphorylase gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1320830 D RGD:2317953|PMID:16373701 20100503 RGD 1310114 Mtap methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:7240710 20130731 OMIM 1310114 Mtap methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY PMID:13511301|PMID:16244874|PMID:16419137|PMID:22464254|PMID:25741868|PMID:28492532|PMID:3745248|PMID:4713573|PMID:8781110 1310114 Mtap methylthioadenosine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1320830 D RGD:2317952|PMID:15534104 20100503 RGD DNA, protein:deletion, decreased activity:pancreas: 1310114 Mtap methylthioadenosine phosphorylase gene DOID:1909 melanoma ISO RGD:1320830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578364 1310114 Mtap methylthioadenosine phosphorylase gene DOID:4608 common bile duct neoplasm ISO RGD:1320830 D RGD:2317954|PMID:15662124 20100503 RGD DNA, protein:deletion, decreased expression:common bile duct: 1310114 Mtap methylthioadenosine phosphorylase gene DOID:5419 schizophrenia ISO RGD:1320830 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310114 Mtap methylthioadenosine phosphorylase gene DOID:630 genetic disease ISO RGD:1320830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310114 Mtap methylthioadenosine phosphorylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 1310114 Mtap methylthioadenosine phosphorylase gene DOID:9002969 Nevus ISO RGD:1320830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320832 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1320832 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1320832 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0111934 immunodeficiency 38 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0111935 immunodeficiency 16 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:10608 celiac disease ISO RGD:1320832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:2349 arteriosclerosis ISO RGD:1320832 D RGD:2317295|PMID:11742877 20100325 RGD protein:increased expression:carotid artery, atherosclerotic lesions (human) 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:5844 myocardial infarction IEP D RGD:2317281|PMID:18353719 20100325 RGD protein:increased expression:heart, cardiomyocyte, endothelial cell (rat) 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:630 genetic disease ISO RGD:1320832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1320832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9000998 Brain Injuries ISO RGD:1320832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320832 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1320832 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1310115 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310116 Cmpk1 cytidine/uridine monophosphate kinase 1 gene DOID:11367 congenital aphakia ISO RGD:1604360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 1310116 Cmpk1 cytidine/uridine monophosphate kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604360 D RGD:5133252|PMID:21642870 20110609 RGD DNA:snps:intron:IVS1+1057C>A rs4492666, IVS1-928C>A rs11211524 (human) 1310116 Cmpk1 cytidine/uridine monophosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1604360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310117 Igsf21 immunoglobin superfamily, member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602849 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1310117 Igsf21 immunoglobin superfamily, member 21 gene DOID:11054 urinary bladder cancer ISO RGD:1602849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1310117 Igsf21 immunoglobin superfamily, member 21 gene DOID:630 genetic disease ISO RGD:1602849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310118 Ankrd12 ankyrin repeat domain 12 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320836 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1310118 Ankrd12 ankyrin repeat domain 12 gene DOID:10283 prostate cancer ISO RGD:1320836 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1310118 Ankrd12 ankyrin repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1320836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310118 Ankrd12 ankyrin repeat domain 12 gene DOID:543 dystonia ISO RGD:1320836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1310118 Ankrd12 ankyrin repeat domain 12 gene DOID:630 genetic disease ISO RGD:1320836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310120 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:7240710 20130221 OMIM 1310120 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:15669674|PMID:15771971|PMID:16199547|PMID:16641202|PMID:17576681|PMID:23856421|PMID:25640679|PMID:25741868|PMID:26729507|PMID:27481510|PMID:28492532|PMID:30653653|PMID:34015165|PMID:9536098 1310120 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:1059 intellectual disability ISO RGD:1320840 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1310120 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320840 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 1310120 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:630 genetic disease ISO RGD:1320840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10642597|PMID:10642602|PMID:23856421|PMID:25741868|PMID:28492532 1310121 Tppp tubulin polymerization promoting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605400 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1310121 Tppp tubulin polymerization promoting protein gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1310121 Tppp tubulin polymerization promoting protein gene DOID:0080600 COVID-19 ISO RGD:1605400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310121 Tppp tubulin polymerization promoting protein gene DOID:630 genetic disease ISO RGD:1605400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310121 Tppp tubulin polymerization promoting protein gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1605400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1310122 Pspc1 paraspeckle component 1 gene DOID:630 genetic disease ISO RGD:1320843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310123 Taf6l TATA-box binding protein associated factor 6 like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1310123 Taf6l TATA-box binding protein associated factor 6 like gene DOID:1059 intellectual disability ISO RGD:1320845 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310123 Taf6l TATA-box binding protein associated factor 6 like gene DOID:630 genetic disease ISO RGD:1320845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310126 Tdrd3 tudor domain containing 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320851 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1310126 Tdrd3 tudor domain containing 3 gene DOID:630 genetic disease ISO RGD:1320851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310127 Rusf1 RUS family member 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1601979 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1310127 Rusf1 RUS family member 1 gene DOID:630 genetic disease ISO RGD:1601979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310127 Rusf1 RUS family member 1 gene DOID:9432 renal glycosuria ISO RGD:1601979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:25741868|PMID:28492532 1310128 Med10 mediator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1604270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310131 Fbln7 fibulin 7 gene DOID:630 genetic disease ISO RGD:1601826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1606119 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:7240710 20130731 OMIM 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:15074367|PMID:16199547|PMID:17564970|PMID:17576681|PMID:18414213|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:27146152|PMID:27848944|PMID:27884173|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:28794409|PMID:29389947|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31216804|PMID:31489614|PMID:31597037|PMID:31618753|PMID:31721179|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34910516|PMID:35087090|PMID:9177532|PMID:9536098 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1606119 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:11832 visual epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:1826 epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532|PMID:30382371 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:630 genetic disease ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19177532|PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29924869|PMID:30382371|PMID:31006324|PMID:31489614|PMID:32037395|PMID:32581362|PMID:33546218 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:8501 fundus dystrophy ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19177532|PMID:25227500|PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:28492532 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:7240710 20150923 OMIM 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy with central cone involvement PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:31006324|PMID:31597037|PMID:32037395|PMID:32581362|PMID:33546218|PMID:35457110|PMID:9536098 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9006534 Nervous System Malformations ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17576681|PMID:25741868|PMID:28492532|PMID:31216804|PMID:9536098 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 1310132 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 1310133 Rinl Ras and Rab interactor-like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1310133 Rinl Ras and Rab interactor-like gene DOID:630 genetic disease ISO RGD:1602985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310133 Rinl Ras and Rab interactor-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1310134 Gtf2e2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:7240710 20190315 OMIM 1310134 Gtf2e2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive PMID:25741868|PMID:26996949|PMID:28492532 1310134 Gtf2e2 general transcription factor IIE subunit 2 gene DOID:630 genetic disease ISO RGD:1320859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11137999|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30622556|PMID:34868270 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:7240710 20151217 OMIM 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26467025|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:32235586|PMID:3285355|PMID:32853555|PMID:32860223|PMID:34599368|PMID:34868270|PMID:35802133|PMID:36633841|PMID:9536098 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1320861 D RGD:1599443|PMID:11137999 20070205 RGD DFNB10, OMIM:605316, DFNB8 OMIM:601072 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:10316 pneumoconiosis ISO RGD:1320861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1320861 D RGD:2325152|PMID:14695172 20100520 RGD 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:630 genetic disease ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11907649|PMID:15447792|PMID:16021470|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:24033266|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:30311386 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320861 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:9004538 Hearing Loss ISO RGD:1320861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11137999|PMID:11462234|PMID:11907649|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:17551081|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:34868270 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:9263 homocystinuria ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1310135 Tmprss3 transmembrane serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310136 Zbtb38 zinc finger and BTB domain containing 38 gene DOID:630 genetic disease ISO RGD:1603531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310137 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:12336 male infertility ISO RGD:1602865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17442852 1310137 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:630 genetic disease ISO RGD:1602865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310137 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1602865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1310138 Tut4 terminal uridylyl transferase 4 gene DOID:1612 breast cancer severity ISO RGD:1320865 D RGD:11530014|PMID:21453498 20160818 RGD in conjunction with E2f1 expression;mRNA:increased expression:breast (human 1310138 Tut4 terminal uridylyl transferase 4 gene DOID:630 genetic disease ISO RGD:1320865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310138 Tut4 terminal uridylyl transferase 4 gene DOID:916 liver benign neoplasm ISO RGD:1320865 D RGD:11530012|PMID:24056962 20160818 RGD human cells in a mouse model 1310139 Mast4 microtubule associated serine/threonine kinase family member 4 gene DOID:0050562 West syndrome ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms 1310139 Mast4 microtubule associated serine/threonine kinase family member 4 gene DOID:630 genetic disease ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310139 Mast4 microtubule associated serine/threonine kinase family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601915 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310141 Tbxt T-box transcription factor T gene DOID:0080074 neural tube defect ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:10332959|PMID:10817656|PMID:12116228|PMID:15449172|PMID:25741868|PMID:8733136 1310141 Tbxt T-box transcription factor T gene DOID:0080074 neural tube defect susceptibility ISO RGD:1320869 D RGD:7240710 20230517 OMIM 1310141 Tbxt T-box transcription factor T gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1320869 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 PMID:25741868 1310141 Tbxt T-box transcription factor T gene DOID:3302 chordoma ISO RGD:1320869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19801981|PMID:23064415 1310141 Tbxt T-box transcription factor T gene DOID:630 genetic disease ISO RGD:1320869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310141 Tbxt T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sacral agenesis with vertebral anomalies PMID:24253444|PMID:25741868 1310141 Tbxt T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies susceptibility ISO RGD:1320869 D RGD:7240710 20230517 OMIM 1310142 Rfc4 replication factor C subunit 4 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320871 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1310142 Rfc4 replication factor C subunit 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1320871 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1310142 Rfc4 replication factor C subunit 4 gene DOID:630 genetic disease ISO RGD:1320871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310142 Rfc4 replication factor C subunit 4 gene DOID:9006205 Animal Disease Models ISO RGD:1320871 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1310143 Prepl prolyl endopeptidase-like gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1606027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310143 Prepl prolyl endopeptidase-like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:7240710 20190315 OMIM 1310143 Prepl prolyl endopeptidase-like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:16199547|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24033266|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29483676|PMID:29913539|PMID:32707643|PMID:32860008|PMID:33233562|PMID:9536098 1310143 Prepl prolyl endopeptidase-like gene DOID:1059 intellectual disability ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1310143 Prepl prolyl endopeptidase-like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606027 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1310143 Prepl prolyl endopeptidase-like gene DOID:3883 Lynch syndrome ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1310143 Prepl prolyl endopeptidase-like gene DOID:5426 primary ovarian insufficiency ISO RGD:1606027 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1310143 Prepl prolyl endopeptidase-like gene DOID:630 genetic disease ISO RGD:1606027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310143 Prepl prolyl endopeptidase-like gene DOID:9266 cystinuria ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12820697|PMID:14531788|PMID:15635077|PMID:16374432|PMID:18234729|PMID:19782624|PMID:20517292|PMID:21677404|PMID:22493502|PMID:22796000|PMID:23532419|PMID:24033266|PMID:24610330|PMID:25109415|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26537754|PMID:28492532|PMID:28646536|PMID:28717662|PMID:30773290|PMID:32133030|PMID:33349102|PMID:7573036|PMID:8054986|PMID:8792820|PMID:9768685 1310144 Snf8 SNF8 subunit of ESCRT-II gene DOID:10487 Hirschsprung's disease ISO RGD:1604833 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1310144 Snf8 SNF8 subunit of ESCRT-II gene DOID:630 genetic disease ISO RGD:1604833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310145 Tbx19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16390921 1310145 Tbx19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:7240710 20130425 OMIM 1310145 Tbx19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:11290323|PMID:12651888|PMID:15476446|PMID:15613420|PMID:17576681|PMID:17652218|PMID:22170728|PMID:25326635|PMID:25741868|PMID:2830787|PMID:28492532|PMID:33423260|PMID:9536098 1310145 Tbx19 T-box transcription factor 19 gene DOID:0111942 immunodeficiency 25 ISO RGD:1320875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1310145 Tbx19 T-box transcription factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1320875 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310145 Tbx19 T-box transcription factor 19 gene DOID:1574 alcohol use disorder ISO RGD:1320875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1310145 Tbx19 T-box transcription factor 19 gene DOID:630 genetic disease ISO RGD:1320875 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310145 Tbx19 T-box transcription factor 19 gene DOID:655 inherited metabolic disorder ISO RGD:1320875 D RGD:1599334|PMID:11290323 20070130 RGD ACTH deficiency, OMIM:201400 1310145 Tbx19 T-box transcription factor 19 gene DOID:9008622 Adrenal Insufficiency ISO RGD:1320875 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency 1310145 Tbx19 T-box transcription factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320875 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310146 Kif16b kinesin family member 16B gene DOID:10283 prostate cancer ISO RGD:1320877 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310146 Kif16b kinesin family member 16B gene DOID:1059 intellectual disability ISO RGD:1320877 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310146 Kif16b kinesin family member 16B gene DOID:630 genetic disease ISO RGD:1320877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310146 Kif16b kinesin family member 16B gene DOID:767 muscular atrophy ISO RGD:1320877 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 1310147 Tbc1d9b TBC1 domain family member 9B gene DOID:630 genetic disease ISO RGD:1604633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310149 Fam13c family with sequence similarity 13, member C gene DOID:10283 prostate cancer ISO RGD:1320881 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310149 Fam13c family with sequence similarity 13, member C gene DOID:630 genetic disease ISO RGD:1320881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310150 Snx25 sorting nexin 25 gene DOID:12849 autistic disorder ISO RGD:1320883 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310150 Snx25 sorting nexin 25 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320883 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1310150 Snx25 sorting nexin 25 gene DOID:630 genetic disease ISO RGD:1320883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310150 Snx25 sorting nexin 25 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1320883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1310151 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:0080600 COVID-19 ISO RGD:1320885 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310151 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320885 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1310151 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:1856 cherubism ISO RGD:1320885 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1310151 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:630 genetic disease ISO RGD:1320885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310152 Tfr2 transferrin receptor 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of PMID:12150153|PMID:16424658|PMID:20301523|PMID:22890139|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:28492532 1310152 Tfr2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 IAGP D RGD:150520058|PMID:23582421 20211025 RGD DNA:missense mutation:cds:Ala679Gly (rat) 1310152 Tfr2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:7240710 20130221 OMIM 1310152 Tfr2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 PMID:10802645|PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:15749661|PMID:16424658|PMID:16838333|PMID:16923517|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21524769|PMID:21770687|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:28492532|PMID:34946929|PMID:9536098 1310152 Tfr2 transferrin receptor 2 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1320887 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 PMID:28492532 1310152 Tfr2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 1310152 Tfr2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320888 D RGD:11062138|PMID:16755567 20160427 RGD mRNA:decreased expression:liver: 1310152 Tfr2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16935854|PMID:17241880|PMID:21411349|PMID:22383097 1310152 Tfr2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:1599386|PMID:10802645 20070201 RGD hemochromatosis, type 3, HFE3, OMIM:604250 1310152 Tfr2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11313241|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18762941|PMID:20301523|PMID:21770687|PMID:21901660|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:27667161|PMID:28276324|PMID:28492532|PMID:9536098 1310152 Tfr2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:9536098 1310152 Tfr2 transferrin receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320887 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310152 Tfr2 transferrin receptor 2 gene DOID:630 genetic disease ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310152 Tfr2 transferrin receptor 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1320887 D RGD:11062090|PMID:15015967 20160425 RGD 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:10534 stomach cancer ISO RGD:1320890 D RGD:28867241|PMID:19878654 20200608 RGD mRNA:increased expression:stomach 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:1059 intellectual disability ISO RGD:1320890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320890 D RGD:28867236|PMID:17079454 20200608 RGD 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1320890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:684 hepatocellular carcinoma ISO RGD:1320890 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1320890 D RGD:9068941 20201203 RGD associated with melanoma PMID:31173190|REF_RGD_ID:40822820 1310154 Ndc80 NDC80 kinetochore complex component gene DOID:9256 colorectal cancer ISO RGD:1320890 D RGD:28867241|PMID:19878654 20200608 RGD mRNA:increased expression:colorectum 1310155 Jchain joining chain of multimeric IgA and IgM gene DOID:0080600 COVID-19 ISO RGD:1320892 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310155 Jchain joining chain of multimeric IgA and IgM gene DOID:630 genetic disease ISO RGD:1320892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310155 Jchain joining chain of multimeric IgA and IgM gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320892 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310157 Yipf4 Yip1 domain family, member 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 1310157 Yipf4 Yip1 domain family, member 4 gene DOID:607 paraplegia ISO RGD:1604267 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 1310157 Yipf4 Yip1 domain family, member 4 gene DOID:630 genetic disease ISO RGD:1604267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:7240710 20190410 OMIM 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57 PMID:25741868|PMID:28492532|PMID:30026316|PMID:30591564|PMID:31213653|PMID:32181283 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320897 D RGD:7777166|PMID:22908283 20140106 RGD 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320896 D RGD:7777170|PMID:19778795 20140106 RGD 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:1826 epilepsy ameliorates IMP D RGD:156420143|PMID:32308116 20230215 RGD 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320896 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1320896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:7240710 20200708 OMIM 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy PMID:25741868|PMID:28492532|PMID:31827280|PMID:31827281 1310158 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:9201 lichen planus ISO RGD:1320896 D RGD:7777168|PMID:20368033 20140106 RGD 1310159 Acad10 acyl-CoA dehydrogenase family, member 10 gene DOID:630 genetic disease ISO RGD:1346668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310160 Zic5 Zic family member 5 gene DOID:0080074 neural tube defect ISO RGD:1320899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 1310160 Zic5 Zic family member 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1320899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1310160 Zic5 Zic family member 5 gene DOID:14701 propionic acidemia ISO RGD:1320899 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1310160 Zic5 Zic family member 5 gene DOID:4621 holoprosencephaly ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1310160 Zic5 Zic family member 5 gene DOID:630 genetic disease ISO RGD:1320899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310160 Zic5 Zic family member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1320899 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310160 Zic5 Zic family member 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1320899 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1310160 Zic5 Zic family member 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 1310161 Rbm34 RNA binding motif protein 34 gene DOID:1540 parathyroid carcinoma ISO RGD:1602128 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310161 Rbm34 RNA binding motif protein 34 gene DOID:630 genetic disease ISO RGD:1602128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310161 Rbm34 RNA binding motif protein 34 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602128 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310162 Lipi lipase I gene DOID:10652 Alzheimer's disease ISO RGD:1605865 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1310162 Lipi lipase I gene DOID:630 genetic disease ISO RGD:1605865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310162 Lipi lipase I gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1605865 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12719377|PMID:28492532 1310162 Lipi lipase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605865 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310162 Lipi lipase I gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1605865 D RGD:1625450|PMID:12719377 20070608 RGD DNA:polymorphism: :p.C55Y 1310163 Srrm2 serine/arginine repetitive matrix 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310163 Srrm2 serine/arginine repetitive matrix 2 gene DOID:14330 Parkinson's disease ISO RGD:1320904 D RGD:11038728|PMID:20161708 20160223 RGD mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) 1310163 Srrm2 serine/arginine repetitive matrix 2 gene DOID:1826 epilepsy ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310163 Srrm2 serine/arginine repetitive matrix 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1320904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310163 Srrm2 serine/arginine repetitive matrix 2 gene DOID:630 genetic disease ISO RGD:1320904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310163 Srrm2 serine/arginine repetitive matrix 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320904 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320906 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum susceptibility ISO RGD:1320906 D RGD:1601050|PMID:8798680 20070404 RGD DNA:transitions: :p.K244E, p.R273H 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1320906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24753253 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:7240710 20130425 OMIM 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group E PMID:10469312|PMID:10585395|PMID:12812979|PMID:21107348|PMID:24728327|PMID:25741868|PMID:28492532 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:2394 ovarian cancer ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868 1310164 Ddb2 damage specific DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1320908 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:630 genetic disease ISO RGD:1320908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310165 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310166 Chct1 CHD1 helical C-terminal domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1603589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1310166 Chct1 CHD1 helical C-terminal domain containing 1 gene DOID:11372 megacolon ISO RGD:1603589 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310167 Eea1 early endosome antigen 1 gene DOID:630 genetic disease ISO RGD:1320911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1602673 D RGD:11352306|PMID:19064721 20160713 RGD DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:11352305|PMID:19234463 20160713 RGD DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human) 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:7240710 20130221 OMIM 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:12511588|PMID:16199547|PMID:17576681|PMID:18779414|PMID:19064721|PMID:19234460|PMID:19234463|PMID:20357244|PMID:21441448|PMID:22134107|PMID:22564402|PMID:24033266|PMID:25741868|PMID:26359933|PMID:28492532|PMID:9536098 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:1059 intellectual disability ISO RGD:1602673 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:13533 osteopetrosis ISO RGD:1602673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:2218 blood platelet disease ISO RGD:1602673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:2394 ovarian cancer IEP D RGD:11035257|PMID:22818854 20160713 RGD protein:decreased expression:serum 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:3070 high grade glioma ISO RGD:1602673 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:630 genetic disease ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1602673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency PMID:25741868|PMID:28492532 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1602673 D RGD:11085957|PMID:26188538 20180530 RGD mRNA:increased expression:artery 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:9008217 Hemorrhage ISO RGD:1602673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 1310168 Fermt3 FERM domain containing kindlin 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1602673 D RGD:11352307|PMID:22391155 20160713 RGD 1310169 Garin5b golgi associated RAB2 interactor family member 5B gene DOID:630 genetic disease ISO RGD:1348410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310170 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310170 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1310170 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:1603192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310170 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1603192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 1310171 Hook2 hook microtubule-tethering protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1310171 Hook2 hook microtubule-tethering protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1310171 Hook2 hook microtubule-tethering protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1320916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1310171 Hook2 hook microtubule-tethering protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1320916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1310171 Hook2 hook microtubule-tethering protein 2 gene DOID:630 genetic disease ISO RGD:1320916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1320917 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320917 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320917 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1310172 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320917 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1310173 Sp110 SP110 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1310173 Sp110 SP110 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1310173 Sp110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310173 Sp110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:16816019|PMID:17149599|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 1310173 Sp110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency susceptibility ISO RGD:1320919 D RGD:7240710 20230510 OMIM 1310173 Sp110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310173 Sp110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599|PMID:24033266|PMID:25741868|PMID:28492532 1310173 Sp110 SP110 nuclear body protein gene DOID:399 tuberculosis susceptibility ISO RGD:1320919 D RGD:7240710 20230510 OMIM 1310173 Sp110 SP110 nuclear body protein gene DOID:630 genetic disease ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:7240710 20170405 OMIM 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive PMID:25741868|PMID:26005865|PMID:26005868|PMID:28492532|PMID:30043326|PMID:32572202 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606200 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:1059 intellectual disability ISO RGD:1606200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:10907 microcephaly ISO RGD:1606200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26005865|PMID:26005868 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:10907 microcephaly ISO RGD:1606200 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:11383 cryptorchidism ISO RGD:1606200 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Cryptorchidism 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:630 genetic disease ISO RGD:1606200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:684 hepatocellular carcinoma ISO RGD:1606200 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310174 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:92 speech disorder ISO RGD:1606200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 1310175 Slc2a12 solute carrier family 2 member 12 gene DOID:630 genetic disease ISO RGD:1320922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310176 Gpr61 G protein-coupled receptor 61 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1310176 Gpr61 G protein-coupled receptor 61 gene DOID:12849 autistic disorder ISO RGD:1320923 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310176 Gpr61 G protein-coupled receptor 61 gene DOID:630 genetic disease ISO RGD:1320923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310177 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 1310177 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1320925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310177 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310177 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 1310177 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 1310178 Cpne3 copine 3 gene DOID:630 genetic disease ISO RGD:1320926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310178 Cpne3 copine 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 1310179 Zfp593 zinc finger protein 593 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320928 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1310179 Zfp593 zinc finger protein 593 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1310179 Zfp593 zinc finger protein 593 gene DOID:630 genetic disease ISO RGD:1320928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310179 Zfp593 zinc finger protein 593 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310179 Zfp593 zinc finger protein 593 gene DOID:9000918 Disease Progression ISO RGD:1320928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310180 Lmf1 lipase maturation factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1310180 Lmf1 lipase maturation factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1310180 Lmf1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:7240710 20130221 OMIM 1310180 Lmf1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipase deficiency, combined PMID:17994020|PMID:19820022|PMID:22239554|PMID:25741868|PMID:28492532|PMID:30037590|PMID:30337590|PMID:31980526|PMID:32041611|PMID:33303402 1310180 Lmf1 lipase maturation factor 1 gene DOID:1826 epilepsy ISO RGD:1348602 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310180 Lmf1 lipase maturation factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348602 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310180 Lmf1 lipase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29214790|PMID:30037590|PMID:30420299|PMID:32115487|PMID:32190547|PMID:36613909 1310180 Lmf1 lipase maturation factor 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348602 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17994020 1310181 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320930 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1310181 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:10283 prostate cancer ISO RGD:1320930 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310181 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1320930 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310181 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:1790 malignant mesothelioma ISO RGD:1320930 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1310181 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:630 genetic disease ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310181 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1310182 Arsk arylsulfatase family, member K gene DOID:0060041 autism spectrum disorder ISO RGD:1606445 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310182 Arsk arylsulfatase family, member K gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310182 Arsk arylsulfatase family, member K gene DOID:12798 mucopolysaccharidosis ISS RGD:1320932 D RGD:13592920 20210415 MouseDO OMIM:252700 1310182 Arsk arylsulfatase family, member K gene DOID:630 genetic disease ISO RGD:1606445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310182 Arsk arylsulfatase family, member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:7240710 20220112 OMIM 1310182 Arsk arylsulfatase family, member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY PMID:34916232 1310182 Arsk arylsulfatase family, member K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606445 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310182 Arsk arylsulfatase family, member K gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310183 Nudt3 nudix hydrolase 3 gene DOID:0050553 JMP syndrome ISO RGD:1320933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1310183 Nudt3 nudix hydrolase 3 gene DOID:630 genetic disease ISO RGD:1320933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310185 Lacc1 laccase domain containing 1 gene DOID:1024 leprosy ISO RGD:1602651 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 1310185 Lacc1 laccase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310185 Lacc1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:7240710 20200318 OMIM 1310185 Lacc1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25147203|PMID:25220867|PMID:25741868|PMID:27881174|PMID:29717096|PMID:31811059 1310186 Ttc13 tetratricopeptide repeat domain 13 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1320938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1310186 Ttc13 tetratricopeptide repeat domain 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320938 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310186 Ttc13 tetratricopeptide repeat domain 13 gene DOID:630 genetic disease ISO RGD:1320938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310186 Ttc13 tetratricopeptide repeat domain 13 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1310186 Ttc13 tetratricopeptide repeat domain 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320938 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:7240710 20130221 OMIM 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24916015|PMID:25741868|PMID:25741869|PMID:26619383|PMID:28492532|PMID:29327391|PMID:31323090|PMID:31691803|PMID:31714402|PMID:33541055|PMID:34637099|PMID:9536098 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1320941 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25182519|PMID:28492532 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:7240710 20130221 OMIM 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18024964|PMID:18363173|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20144242|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25182519|PMID:25500497|PMID:25741868|PMID:26467025|PMID:27057589|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31323090|PMID:31420327|PMID:31691803|PMID:31714402|PMID:33816482 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:2566 corneal dystrophy ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:18024964|PMID:18363173|PMID:20144242|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:33816482|PMID:34130750 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:630 genetic disease ISO RGD:1320941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:7240710 20130221 OMIM 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 PMID:16767101|PMID:18024964|PMID:22072594|PMID:25741868|PMID:29327391 1310188 Slc4a11 solute carrier family 4 member 11 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320941 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1310189 Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:0080600 COVID-19 ISO RGD:1320943 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1310189 Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:630 genetic disease ISO RGD:1320943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310189 Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:8398 osteoarthritis ISO RGD:1320943 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1310190 Snx5 sorting nexin 5 gene DOID:630 genetic disease ISO RGD:1320945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310190 Snx5 sorting nexin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310190 Snx5 sorting nexin 5 gene DOID:9000918 Disease Progression ISO RGD:1320945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:7240710 20160120 OMIM 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:30214071|PMID:31735666|PMID:35871307 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1604388 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:10907 microcephaly ISO RGD:1604388 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23806086|PMID:24088041|PMID:25259927 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:630 genetic disease ISO RGD:1604388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:25741868 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 1310191 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1604388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 1310193 Daglb diacylglycerol lipase, beta gene DOID:630 genetic disease ISO RGD:1604501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310194 Snrpb2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:14566 disease of cellular proliferation ISO RGD:1320950 D RGD:10755689|PMID:18519667 20160203 RGD mRNA:altered expression:multiple (human) 1310194 Snrpb2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:630 genetic disease ISO RGD:1320950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310194 Snrpb2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:65 connective tissue disease ISO RGD:1320950 D RGD:10448928|PMID:2968364 20160202 RGD 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:7240710 20190315 OMIM 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:12482411|PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15194541|PMID:15254010|PMID:15461631|PMID:15610558|PMID:15710580|PMID:15775751|PMID:15811010|PMID:16103117|PMID:17339196|PMID:17490902|PMID:17726683|PMID:17938254|PMID:18492090|PMID:18827264|PMID:18976966|PMID:19796184|PMID:19907145|PMID:20301349|PMID:21411349|PMID:21901660|PMID:22408404|PMID:24033266|PMID:25741868|PMID:26151776|PMID:26633544|PMID:27753142|PMID:28363629|PMID:28492532|PMID:29764732|PMID:30166352|PMID:30195625|PMID:30389309|PMID:32824233|PMID:34946929 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15254010|PMID:15610558|PMID:15811010|PMID:16103117|PMID:17339196|PMID:18827264|PMID:19796184|PMID:22408404|PMID:24033266|PMID:25741868|PMID:28492532 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:0111034 hemochromatosis type 2 ISO RGD:1320952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:0111034 hemochromatosis type 2 ISO RGD:1320952 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis PMID:25741868|PMID:28492532|PMID:29764732 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:13580 cholestasis ISO RGD:1320952 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1320952 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16868025|PMID:17255318|PMID:19252486|PMID:21411349 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:1599478|PMID:14647275 20070205 RGD juvenile hemochromatosis, type 2A, OMIM:602390 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:5419 schizophrenia ISO RGD:1320952 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:630 genetic disease ISO RGD:1320952 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320952 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310195 Hjv hemojuvelin BMP co-receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320952 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310196 Washc1 WASH complex subunit 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1626557 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1310196 Washc1 WASH complex subunit 1 gene DOID:5419 schizophrenia ISO RGD:1626557 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310196 Washc1 WASH complex subunit 1 gene DOID:630 genetic disease ISO RGD:1626557 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310197 Slc26a6 solute carrier family 26 member 6 gene DOID:630 genetic disease ISO RGD:1320955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310197 Slc26a6 solute carrier family 26 member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320955 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310197 Slc26a6 solute carrier family 26 member 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320955 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1310197 Slc26a6 solute carrier family 26 member 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1310198 Polr2j RNA polymerase II subunit J gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320957 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310198 Polr2j RNA polymerase II subunit J gene DOID:630 genetic disease ISO RGD:1320957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310199 Ino80c INO80 complex subunit C gene DOID:1059 intellectual disability ISO RGD:1320959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310199 Ino80c INO80 complex subunit C gene DOID:630 genetic disease ISO RGD:1320959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310200 Wdhd1 WD repeat and HMG-box DNA binding protein 1 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1320961 D RGD:156420141|PMID:30314946 20230215 RGD 1310200 Wdhd1 WD repeat and HMG-box DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310201 Alx4 ALX homeobox 4 gene DOID:0060285 parietal foramina ISO RGD:1320963 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11137991 1310201 Alx4 ALX homeobox 4 gene DOID:0060285 parietal foramina ISO RGD:1320963 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum 1310201 Alx4 ALX homeobox 4 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320963 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1310201 Alx4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 1310201 Alx4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 2 PMID:19692347|PMID:22140057|PMID:24668755|PMID:25741868|PMID:28492532 1310201 Alx4 ALX homeobox 4 gene DOID:1059 intellectual disability ISO RGD:1320963 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310201 Alx4 ALX homeobox 4 gene DOID:1148 polydactyly ISO RGD:1320963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 1310201 Alx4 ALX homeobox 4 gene DOID:1324 lung cancer ISO RGD:1320963 D RGD:153344522|PMID:24037716 20221116 RGD DNA:hypermethylation:CpG_island: 1310201 Alx4 ALX homeobox 4 gene DOID:2340 craniosynostosis ISO RGD:1320963 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1310201 Alx4 ALX homeobox 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1320963 D RGD:153344544|PMID:27895854 20220824 RGD 1310201 Alx4 ALX homeobox 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1320963 D RGD:153350135|PMID:18978557 20221116 RGD 1310201 Alx4 ALX homeobox 4 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ameliorates ISO RGD:1320963 D RGD:153344522|PMID:24037716 20221116 RGD 1310201 Alx4 ALX homeobox 4 gene DOID:4992 optic nerve glioma ISO RGD:1320963 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:25741868 1310201 Alx4 ALX homeobox 4 gene DOID:630 genetic disease ISO RGD:1320963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19692347|PMID:25741868|PMID:28492532 1310201 Alx4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma IEP D RGD:153323330|PMID:31132711 20220816 RGD mRNA, protein:decreased expression:liver 1310201 Alx4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320963 D RGD:153323329|PMID:28081728 20220816 RGD mRNA, protein:decreased expression:liver 1310201 Alx4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1320963 D RGD:153323330|PMID:31132711 20220816 RGD 1310201 Alx4 ALX homeobox 4 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1320963 D RGD:153344541|PMID:20140221 20220824 RGD DNA:altered methylation:plasma: 1310201 Alx4 ALX homeobox 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1320963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24037716 1310201 Alx4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 1310201 Alx4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to PMID:22829454 1310201 Alx4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:7240710 20230510 OMIM 1310201 Alx4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 2 PMID:11106354|PMID:11137991|PMID:16319823|PMID:22829454|PMID:24764194|PMID:25741868|PMID:28492532 1310201 Alx4 ALX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 1310201 Alx4 ALX homeobox 4 gene DOID:9256 colorectal cancer ISO RGD:1320963 D RGD:153323327|PMID:17101318 20220816 RGD DNA:hypermethylation:serum: 1310201 Alx4 ALX homeobox 4 gene DOID:9256 colorectal cancer ISO RGD:1320963 D RGD:153344524|PMID:26918234 20220819 RGD DNA:hypermethylation:serum: 1310202 Galnt16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:630 genetic disease ISO RGD:1320965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310202 Galnt16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:9008939 Breast Neoplasms ISO RGD:1320965 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1310203 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:1059 intellectual disability ISO RGD:1320967 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310203 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:1320967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310203 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320967 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310203 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310204 Ppwd1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310204 Ppwd1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601770 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310205 Glipr1l2 GLIPR1 like 2 gene DOID:630 genetic disease ISO RGD:1606963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310207 Tmem63c transmembrane protein 63c gene DOID:1059 intellectual disability ISO RGD:1320973 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310207 Tmem63c transmembrane protein 63c gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320973 D RGD:15023481|PMID:30900988 20210819 RGD protein:decreased expression:kidney,renal glomerulus (human) 1310207 Tmem63c transmembrane protein 63c gene DOID:630 genetic disease ISO RGD:1320973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310207 Tmem63c transmembrane protein 63c gene DOID:9001542 Albuminuria IEP D RGD:15023481|PMID:30900988 20210819 RGD mRNA:increased expression:kidney,renal glomerulus (rat) 1310207 Tmem63c transmembrane protein 63c gene DOID:9003756 Spastic Paraplegia 87, Autosomal Recessive ISO RGD:1320973 D RGD:7240710 20220810 OMIM 1310207 Tmem63c transmembrane protein 63c gene DOID:9003756 Spastic Paraplegia 87, Autosomal Recessive ISO RGD:1320973 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive PMID:35718349 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0050712 AGAT deficiency ISO RGD:1320975 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:7240710 20140911 OMIM 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 PMID:10610180|PMID:16199547|PMID:17576681|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:32245340|PMID:33543539|PMID:9536098 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2223 platelet storage pool deficiency ISS RGD:1320976 D RGD:13592920 20180518 MouseDO OMIM:185050 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2717 Bloom syndrome ISO RGD:1320975 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320975 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1320975 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:10610180|PMID:21665000|PMID:22461475|PMID:26575419|PMID:28492532|PMID:33543539 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:630 genetic disease ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9256 colorectal cancer ISO RGD:1320975 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310208 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9675 pulmonary emphysema ISS RGD:1320976 D RGD:13592920 20180518 MouseDO OMIM:130700 1310209 Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1310209 Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:12849 autistic disorder ISO RGD:1606254 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310209 Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1606254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310210 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:7240710 20200226 OMIM 1310210 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532|PMID:31820119 1310210 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320978 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1310210 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:630 genetic disease ISO RGD:1320978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310211 Ngdn neuroguidin gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1310211 Ngdn neuroguidin gene DOID:630 genetic disease ISO RGD:1320980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310211 Ngdn neuroguidin gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1310211 Ngdn neuroguidin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310213 Orai2 ORAI calcium release-activated calcium modulator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320982 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310213 Orai2 ORAI calcium release-activated calcium modulator 2 gene DOID:630 genetic disease ISO RGD:1320982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310215 Taf5l1 TATA-box binding protein associated factor 5 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320985 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310215 Taf5l1 TATA-box binding protein associated factor 5 like 1 gene DOID:630 genetic disease ISO RGD:1320985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310215 Taf5l1 TATA-box binding protein associated factor 5 like 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1310215 Taf5l1 TATA-box binding protein associated factor 5 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320985 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310216 Smtn smoothelin gene DOID:0080600 COVID-19 ISO RGD:1320987 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310216 Smtn smoothelin gene DOID:630 genetic disease ISO RGD:1320987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310217 Kdm2b lysine demethylase 2B gene DOID:0080074 neural tube defect ISO RGD:1320990 D RGD:9588256|PMID:21220025 20141023 RGD 1310217 Kdm2b lysine demethylase 2B gene DOID:0081312 T-cell non-Hodgkin lymphoma IAGP D RGD:9588252|PMID:18250326 20141023 RGD DNA:insertions:promoter:multiple (rat) 1310217 Kdm2b lysine demethylase 2B gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1320989 D RGD:9588253|PMID:23321669 20141023 RGD mRNA, protein:increased expression:pancreas (human) 1310217 Kdm2b lysine demethylase 2B gene DOID:5419 schizophrenia ISO RGD:1320989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1310217 Kdm2b lysine demethylase 2B gene DOID:630 genetic disease ISO RGD:1320989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310217 Kdm2b lysine demethylase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1320989 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1310217 Kdm2b lysine demethylase 2B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320989 D RGD:9588255|PMID:21310926 20141023 RGD mRNA:increased expression:bone marrow (human) 1310218 Xrn2 5'-3' exoribonuclease 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320991 D RGD:11041796|PMID:21692051 20160329 RGD DNA:hypermethylation:3' utr: (human) 1310218 Xrn2 5'-3' exoribonuclease 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1320991 D RGD:11041753|PMID:19915612 20160328 RGD DNA:snp:intron:c.2171-314T>C (rs2025811) (human) 1310218 Xrn2 5'-3' exoribonuclease 2 gene DOID:1824 status epilepticus IEP D RGD:11041797|PMID:26869208 20160329 RGD mRNA:increased expression:hippocampus (rat) 1310218 Xrn2 5'-3' exoribonuclease 2 gene DOID:1967 leiomyosarcoma ISO RGD:1320991 D RGD:11041788|PMID:24485798 20160329 RGD mRNA:increased expression:uterus (human) 1310218 Xrn2 5'-3' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1320991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310219 Cryzl1 crystallin zeta like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1310219 Cryzl1 crystallin zeta like 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1320993 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1310219 Cryzl1 crystallin zeta like 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1310219 Cryzl1 crystallin zeta like 1 gene DOID:630 genetic disease ISO RGD:1320993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310219 Cryzl1 crystallin zeta like 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1320993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1310221 Gna13 G protein subunit alpha 13 gene DOID:630 genetic disease ISO RGD:1320997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310221 Gna13 G protein subunit alpha 13 gene DOID:8584 Burkitt lymphoma ISO RGD:1320997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 1310221 Gna13 G protein subunit alpha 13 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1320997 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 1310222 Ifrd2 interferon-related developmental regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1310222 Ifrd2 interferon-related developmental regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1310222 Ifrd2 interferon-related developmental regulator 2 gene DOID:630 genetic disease ISO RGD:1320999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310222 Ifrd2 interferon-related developmental regulator 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320999 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1310222 Ifrd2 interferon-related developmental regulator 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604396 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604396 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604396 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1604396 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310223 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604396 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1310225 Fbxo43 F-box protein 43 gene DOID:0111590 Cohen syndrome ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1310225 Fbxo43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 1310225 Fbxo43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 64 PMID:30878252|PMID:34052850|PMID:34595750 1310225 Fbxo43 F-box protein 43 gene DOID:630 genetic disease ISO RGD:1321003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310225 Fbxo43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 1310225 Fbxo43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 12 PMID:34052850|PMID:34595750 1310226 Frs3 fibroblast growth factor receptor substrate 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310226 Frs3 fibroblast growth factor receptor substrate 3 gene DOID:630 genetic disease ISO RGD:1321005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310226 Frs3 fibroblast growth factor receptor substrate 3 gene DOID:905 Zellweger syndrome ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1321007 D RGD:8554872 20150811 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:16244493|PMID:25601850 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0060357 chylomicron retention disease ISO RGD:1321007 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:25741868|PMID:27469900 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:10412291|PMID:25601850 20170630 RGD DNA:missense mutation:cds:p.Q424P (human) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:7240710 20150708 OMIM 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 66 PMID:16199547|PMID:16244493|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25601850|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:7240710 20160914 OMIM 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 19 PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:31821705 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321007 D RGD:12910980|PMID:27501527 20170630 RGD DNA:snp:intron:c.923-1870T>C (human) (rs793862) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:11568452|PMID:27319779 20170630 RGD DNA:missense mutation, deletion:cds:p.K17N, p.F142_R186del (human) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:7240710 20220420 OMIM 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitis PMID:16199547|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia ISO RGD:1622142 D RGD:12910976|PMID:25130614 20170630 RGD 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:11532935|PMID:27100778 20170630 RGD DNA:snp:intron:c.760-430G>A (human) (rs807724) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:12910971|PMID:22750057 20170630 RGD DNA:snps:multiple (human) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:12910973|PMID:20068590 20170630 RGD DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:12910975|PMID:19238550 20170630 RGD DNA:deletion, snps:introns:multiple (human) 1310227 Dcdc2 doublecortin domain containing 2 gene DOID:630 genetic disease ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310228 Rpp40 ribonuclease P/MRP subunit p40 gene DOID:630 genetic disease ISO RGD:1321008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310229 Dusp29 dual specificity phosphatase 29 gene DOID:630 genetic disease ISO RGD:1321010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310229 Dusp29 dual specificity phosphatase 29 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 1310230 Mff mitochondrial fission factor gene DOID:224 transient cerebral ischemia treatment IDA D RGD:12879457|PMID:26116440 20170420 RGD 1310230 Mff mitochondrial fission factor gene DOID:5844 myocardial infarction ISO RGD:1321011 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 1310230 Mff mitochondrial fission factor gene DOID:5844 myocardial infarction treatment ISO RGD:1321012 D RGD:12879458|PMID:23867156 20170420 RGD 1310230 Mff mitochondrial fission factor gene DOID:630 genetic disease ISO RGD:1321011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310230 Mff mitochondrial fission factor gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1321011 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:25558065 1310230 Mff mitochondrial fission factor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1321011 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 1310230 Mff mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:7240710 20190315 OMIM 1310230 Mff mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 PMID:22499341|PMID:25558065|PMID:25741868|PMID:26783368|PMID:28492532|PMID:32181496|PMID:34750646 1310232 Sall3 spalt-like transcription factor 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1310232 Sall3 spalt-like transcription factor 3 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1321014 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1310232 Sall3 spalt-like transcription factor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321014 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1310232 Sall3 spalt-like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310232 Sall3 spalt-like transcription factor 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1310232 Sall3 spalt-like transcription factor 3 gene DOID:8445 intestinal volvulus ISO RGD:1321014 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1310232 Sall3 spalt-like transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1321014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 1310232 Sall3 spalt-like transcription factor 3 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1321014 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1310232 Sall3 spalt-like transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321014 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310232 Sall3 spalt-like transcription factor 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321014 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1310232 Sall3 spalt-like transcription factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15282310 1310232 Sall3 spalt-like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321014 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:28492532 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:7240710 20141216 OMIM 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:28832565|PMID:29096665|PMID:29302074|PMID:31230720|PMID:31359954|PMID:32979048|PMID:32989326|PMID:33813722|PMID:34087981|PMID:36371792|PMID:9536098 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:19481195|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048|PMID:33813722 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:9536098 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321015 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:607 paraplegia ISO RGD:1321015 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:29096665|PMID:29302074|PMID:31359954|PMID:32979048|PMID:32989326|PMID:36371792 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1321015 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:28492532 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321015 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1310233 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24700674|PMID:25558065|PMID:25741868|PMID:32979048 1310234 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1321017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1310234 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1321017 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310234 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1321017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310236 Prkd3 protein kinase D3 gene DOID:0080690 RASopathy ISO RGD:1353868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310236 Prkd3 protein kinase D3 gene DOID:630 genetic disease ISO RGD:1353868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310236 Prkd3 protein kinase D3 gene DOID:9004657 Weight Gain ISO RGD:1353868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1310237 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602641 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310237 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310237 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1310237 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:630 genetic disease ISO RGD:1602641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310237 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602641 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310237 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310238 Man2a2 mannosidase, alpha, class 2A, member 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1321024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1310238 Man2a2 mannosidase, alpha, class 2A, member 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1321024 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1310238 Man2a2 mannosidase, alpha, class 2A, member 2 gene DOID:2717 Bloom syndrome ISO RGD:1321024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310238 Man2a2 mannosidase, alpha, class 2A, member 2 gene DOID:630 genetic disease ISO RGD:1321024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1321026 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1321026 D RGD:7240710 20230517 OMIM 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0050941 spastic ataxia 2 ISO RGD:1321026 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0060903 thrombosis ISO RGD:1321026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1321026 D RGD:8554872 20200225 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma PMID:25741868|PMID:28492532 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1321026 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:10450803|PMID:15705799 20160121 RGD DNA:deletion 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:10450814|PMID:7833477 20160121 RGD DNA:missense mutation: :p.V239M (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:10450823|PMID:2052556 20160121 RGD DNA:missense mutation: :p.G233V (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:7240710 20230517 OMIM 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo von Willebrand disease PMID:2052556|PMID:25741868|PMID:31064749|PMID:34355501|PMID:8384898|PMID:8486780 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:7240710 20230517 OMIM 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant PMID:10089893|PMID:10235425|PMID:11054083|PMID:11222377|PMID:1694864|PMID:1730088|PMID:18065693|PMID:19067792|PMID:21933849|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28983057|PMID:29082515|PMID:30349881|PMID:30908598|PMID:31064749|PMID:32757236|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9326229|PMID:9326230 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:10763 hypertension ISO RGD:1321026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:11713 diabetic angiopathy ISO RGD:1321026 D RGD:7242686|PMID:21411989 20130416 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:1321026 D RGD:7242688|PMID:12185480 20130416 RGD protein: reduced expression: : 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1588 thrombocytopenia ISO RGD:1321026 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:29082515|PMID:31064749|PMID:34355501|PMID:8384898 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1588 thrombocytopenia ISO RGD:1321027 D RGD:10450849|PMID:11001906 20160122 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1725 peritoneum cancer sexual_dimorphism ISO RGD:1321026 D RGD:42722625|PMID:32724431 20210308 RGD associated with stomach cancer;protein:altered expression:peritoneum (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2213 hemorrhagic disease ISO RGD:1321026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:10450796|PMID:23995613 20160121 RGD DNA:missense mutation: :p.V262G (c.785T>G) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:10450798|PMID:21173099 20160121 RGD DNA:missense mutation: :p.N126D (c.376A>G) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:10450809|PMID:10996832 20160121 RGD DNA:missense mutation: :p.L129P (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:10450819|PMID:10089893 20160121 RGD DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:10450834|PMID:19404517 20160121 RGD DNA:missense mutation: :p.N45S (1829A>G) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:10450843|PMID:11776304 20160121 RGD DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:7240710 20230517 OMIM 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10089893|PMID:10996832|PMID:11054083|PMID:18065693|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29232918|PMID:30349881|PMID:32757236|PMID:34355501|PMID:7579348|PMID:7855797|PMID:8950770|PMID:9233564|PMID:9326229|PMID:9326230|PMID:9639514 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome treatment ISO RGD:1321026 D RGD:10450833|PMID:22044935 20160121 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2316 brain ischemia exacerbates ISO RGD:1321027 D RGD:42722626|PMID:24644058 20210308 RGD associated with Pneumococcal Infections 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:5082 liver cirrhosis treatment ISO RGD:1321026 D RGD:42722628|PMID:31851564 20210308 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:5844 myocardial infarction ISO RGD:1321026 D RGD:1580432|PMID:15269835 19990101 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:630 genetic disease ISO RGD:1321026 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:784 chronic kidney disease exacerbates ISO RGD:1321026 D RGD:42722629|PMID:11314805 20210308 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:8283 peritonitis exacerbates ISO RGD:1321027 D RGD:42722627|PMID:20716766 20210308 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:874 bacterial pneumonia exacerbates ISO RGD:1321027 D RGD:42722624|PMID:27845343 20210308 RGD associated with Escherichia Coli Infections 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1321027 D RGD:10450841|PMID:16861348 20160121 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9000528 Coronary Disease ISO RGD:1321026 D RGD:1580433|PMID:14592833 19990101 RGD 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321027 D RGD:10450866|PMID:19727118 20160122 RGD associated with Melanoma, Experimental 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9001249 Bernard-Soulier Syndrome, Type A ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 PMID:10235425|PMID:11222377|PMID:1694864|PMID:1901273|PMID:19067792|PMID:21933849|PMID:2308962|PMID:25741868|PMID:28492532|PMID:28983057|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9233564|PMID:9639514 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:10450832|PMID:11222377 20160121 RGD DNA:missense mutation: :p.A156V (515C>T) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:10450842|PMID:18815197 20160121 RGD DNA:missense mutation: :p.N41H (169A>C) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9002522 Embolism susceptibility ISO RGD:1321026 D RGD:42722623|PMID:23611001 20210308 RGD associated with infective endocarditis;DNA:repeat:CDS:(human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9003168 Diarrhea prodrome + Hemolytic-Uremic Syndrome ISO RGD:1321026 D RGD:42722620|PMID:29216383 20210308 RGD associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) 1310239 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9004484 Sepsis exacerbates ISO RGD:1321027 D RGD:42722621|PMID:24150174 20210308 RGD associated with thrombocytopenia 1310240 Mettl2 methyltransferase like 2 gene DOID:630 genetic disease ISO RGD:1601800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0050777 Joubert syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321029 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0081097 Rafiq syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:1826 epilepsy ISO RGD:1321029 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:630 genetic disease ISO RGD:1321029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310241 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310242 Arsi arylsulfatase family, member I gene DOID:0060041 autism spectrum disorder ISO RGD:1604953 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310242 Arsi arylsulfatase family, member I gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310242 Arsi arylsulfatase family, member I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604953 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 1310242 Arsi arylsulfatase family, member I gene DOID:607 paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532|PMID:28832565 1310242 Arsi arylsulfatase family, member I gene DOID:630 genetic disease ISO RGD:1604953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310242 Arsi arylsulfatase family, member I gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310243 Tbc1d21 TBC1 domain family, member 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1310243 Tbc1d21 TBC1 domain family, member 21 gene DOID:2717 Bloom syndrome ISO RGD:1353455 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310243 Tbc1d21 TBC1 domain family, member 21 gene DOID:3320 Tay-Sachs disease ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1310243 Tbc1d21 TBC1 domain family, member 21 gene DOID:5419 schizophrenia ISO RGD:1353455 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310243 Tbc1d21 TBC1 domain family, member 21 gene DOID:630 genetic disease ISO RGD:1353455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310243 Tbc1d21 TBC1 domain family, member 21 gene DOID:9256 colorectal cancer ISO RGD:1353455 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:0060500 drug allergy ISO RGD:1321033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:1205 allergic disease ISO RGD:1321033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:4891483|PMID:18712274 20110117 RGD DNA:SNPs: :304C>A, 1272A>G (human) 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:4891484|PMID:17548626 20110117 RGD 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:4891496|PMID:12952266 20110118 RGD protein:increased expression:respiratory system fluid/secretion 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:5130930|PMID:16304252 20110414 RGD protein:increased expression:plasma 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:5130932|PMID:12761043 20110414 RGD DNA:SNP: :1265A>G (human) 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321034 D RGD:4891485|PMID:17060636 20110117 RGD 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma susceptibility ISO RGD:1321033 D RGD:4891495|PMID:15207712 20110118 RGD DNA:SNPs: :179T>C, 275C>T (human) 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:3310 atopic dermatitis ISO RGD:1321033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:4145109|PMID:17982926 20110118 RGD mRNA:increased expression:nasal cavity epithelium 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:4891493|PMID:15580493 20110414 RGD DNA:SNPs: :179T>C, 275C>T (human) 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321033 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:552 pneumonia ISO RGD:1321033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:630 genetic disease ISO RGD:1321033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:8544 chronic fatigue syndrome ISO RGD:1321033 D RGD:11538286|PMID:26615570 20191112 RGD protein:increased expression:plasma: 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:9001371 Eosinophilia ISO RGD:1321033 D RGD:4891487|PMID:19296494 20110117 RGD associated with Sinusitis 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:9001472 Nasal Polyps ISO RGD:1321033 D RGD:4145448|PMID:10415058 20101104 RGD mRNA:increased expression:nasal cavity epithelium 1310245 Ccl24 C-C motif chemokine ligand 24 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321033 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:11714 gestational diabetes ISO RGD:1321035 D RGD:2313946|PMID:19002430 20091102 RGD DNA:snp: :rs7756992,rs7754840(human) 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:13677 SAPHO syndrome ISO RGD:1321035 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27936930 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1321035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9003996 Birth Weight ISO RGD:1321035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9007633 Body Weight ISO RGD:1321035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9351 diabetes mellitus ISO RGD:1321035 D RGD:2313940|PMID:19741467 20091102 RGD DNA:snp: :rs10946398(human) 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17460697|PMID:23104008|PMID:23202124 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:2313941|PMID:19401414 20091102 RGD 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:2313947|PMID:18991055 20091102 RGD DNA:snp: :rs7754840(human) 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:2313949|PMID:18633108 20091102 RGD DNA:snps: :multiple 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 1310246 Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 gene DOID:9970 obesity ISO RGD:1321035 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Obesity 1310247 Stk35 serine/threonine kinase 35 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1321037 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1310247 Stk35 serine/threonine kinase 35 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1321037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1310247 Stk35 serine/threonine kinase 35 gene DOID:630 genetic disease ISO RGD:1321037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310250 Nup210l nucleoporin 210-like gene DOID:0070048 GAND syndrome ISO RGD:1344758 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 1310250 Nup210l nucleoporin 210-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310250 Nup210l nucleoporin 210-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310250 Nup210l nucleoporin 210-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1310250 Nup210l nucleoporin 210-like gene DOID:1540 parathyroid carcinoma ISO RGD:1344758 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310250 Nup210l nucleoporin 210-like gene DOID:5812 MHC class II deficiency ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310250 Nup210l nucleoporin 210-like gene DOID:630 genetic disease ISO RGD:1344758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310250 Nup210l nucleoporin 210-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344758 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605681 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:0080600 COVID-19 ISO RGD:1605681 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:630 genetic disease ISO RGD:1605681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605681 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310251 Mzb1 marginal zone B and B1 cell-specific protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310252 Ano4 anoctamin 4 gene DOID:289 endometriosis ISO RGD:1321043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1310252 Ano4 anoctamin 4 gene DOID:303 substance-related disorder ISO RGD:1321043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1310252 Ano4 anoctamin 4 gene DOID:630 genetic disease ISO RGD:1321043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:1059 intellectual disability ISO RGD:1321045 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:3070 high grade glioma ISO RGD:1321045 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:630 genetic disease ISO RGD:1321045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321045 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310253 Cdc42ep2 CDC42 effector protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:7240710 20230517 OMIM 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy PMID:10090888|PMID:10655510|PMID:10678658|PMID:15551337|PMID:16199547|PMID:24033266|PMID:24273071|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31090205|PMID:33570243 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Stickler syndrome | ClinVar Annotator: match by term: Stickler syndrome PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321049 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1321049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:25741868|PMID:28492532 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1321049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321049 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:1826 epilepsy ISO RGD:1321049 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1321049 D RGD:1600695|PMID:10090888 20070323 RGD multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:5327 retinal detachment ISO RGD:1321049 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868|PMID:28492532 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:630 genetic disease ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24273071|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31090205 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:65 connective tissue disease ISO RGD:1321049 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11308397|PMID:11565064|PMID:15917166|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28507545|PMID:30467950 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:7240710 20230517 OMIM 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to PMID:11308397|PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:33570243 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:7240710 20230517 OMIM 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type VI PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243|PMID:35241111 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 1310255 Col9a3 collagen type IX alpha 3 chain gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:12254343 D RGD:9068941 20210903 OMIA Oculoskeletal dysplasia 1 PMID:1525714|PMID:20686772|PMID:22065099|PMID:31415586|PMID:31595625|PMID:31746146|PMID:3204050|PMID:830631 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:7240710 20130221 OMIM 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:10024875|PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:16551969|PMID:17576681|PMID:23265383|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28492532|PMID:31898847|PMID:32935436|PMID:8042664|PMID:9536098 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:10283 prostate cancer ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321051 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1227 neutropenia ISO RGD:1321051 D RGD:1578409|PMID:12125811 19990101 RGD 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1321051 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2223 platelet storage pool deficiency ISS RGD:1321052 D RGD:13592920 20180518 MouseDO OMIM:185050 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3082 interstitial lung disease ISO RGD:1321051 D RGD:11096518|PMID:22009278 20160607 RGD associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:1578409|PMID:12125811 19990101 RGD 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:16507770|PMID:23403622|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321052 D RGD:11087576|PMID:11861280 20160606 RGD 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321052 D RGD:11087577|PMID:11056055 20160606 RGD DNA:duplication, deletions:introns, exons: (mouse) 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1321051 D RGD:1578409|PMID:12125811 19990101 RGD 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:12137585 D RGD:9068941 20220825 OMIA Neutropenia, cyclic PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310256 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321051 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310257 Zswim9 zinc finger SWIM-type containing 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1310258 E2f7 E2F transcription factor 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1321054 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1310258 E2f7 E2F transcription factor 7 gene DOID:630 genetic disease ISO RGD:1321054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310258 E2f7 E2F transcription factor 7 gene DOID:9000918 Disease Progression ISO RGD:1321054 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321056 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:1826 epilepsy ISO RGD:1321056 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:630 genetic disease ISO RGD:1321056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310259 Ssna1 SS nuclear autoantigen 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310260 Cimap1d CIMAP1 family member D gene DOID:630 genetic disease ISO RGD:1321058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310261 Nhlh1 nescient helix loop helix 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1310261 Nhlh1 nescient helix loop helix 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321059 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310261 Nhlh1 nescient helix loop helix 1 gene DOID:630 genetic disease ISO RGD:1321059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310261 Nhlh1 nescient helix loop helix 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321059 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310263 G2e3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1321062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310263 G2e3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1349198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:7240710 20190315 OMIM 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 PMID:25558065|PMID:25741868|PMID:27270415|PMID:28492532|PMID:32165008 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1432 blindness ISO RGD:1349198 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Blindness PMID:25558065|PMID:25741868|PMID:27270415 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1540 parathyroid carcinoma ISO RGD:1349198 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:630 genetic disease ISO RGD:1349198 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32165008 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9006534 Nervous System Malformations ISO RGD:1349198 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25558065|PMID:25741868|PMID:27270415 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1349198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1310264 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349198 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:0050567 orofacial cleft ISS RGD:1321068 D RGD:13592920 20180518 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:7240710 20180725 OMIM 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10767004|PMID:18423521|PMID:19685247|PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:21539471|PMID:21728810|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31829210|PMID:7747785 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:10376 amblyopia ISO RGD:1321067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:25741868 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:10629 microphthalmia ISO RGD:1321067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:11364 lens subluxation ISO RGD:1321067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:25741868 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1321067 D RGD:1578494|PMID:14752511 20110609 RGD protein:increased expression:myocardium 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:14702 branchiootorenal syndrome ISO RGD:1321067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:14702 branchiootorenal syndrome ISO RGD:1321067 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:30311386 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:557 kidney disease ISO RGD:1321067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:630 genetic disease ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:22191992|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:27607113|PMID:28492532|PMID:31829210|PMID:7747785 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9001575 IRIS COLOBOMA ISO RGD:1321067 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9003133 Hypertelorism ISO RGD:1321067 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321067 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9008296 Eye Abnormalities ISO RGD:1321067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14534133|PMID:19685247 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1321067 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16204029 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9650 pathologic nystagmus ISO RGD:1321067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 1310267 Tfap2a transcription factor AP-2 alpha gene DOID:9840 esotropia ISO RGD:1321067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Esotropia PMID:25741868 1310268 Thap11 THAP domain containing 11 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISS RGD:1321070 D RGD:13592920 20220210 MouseDO OMIM:277400 1310268 Thap11 THAP domain containing 11 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310268 Thap11 THAP domain containing 11 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 1310268 Thap11 THAP domain containing 11 gene DOID:630 genetic disease ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310268 Thap11 THAP domain containing 11 gene DOID:655 inherited metabolic disorder ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 1310269 Tmem179 transmembrane protein 179 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1346739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1310270 Mettl25 methyltransferase like 25 gene DOID:630 genetic disease ISO RGD:1602087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1353453 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:630 genetic disease ISO RGD:1353453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353453 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310271 Samd11 sterile alpha motif domain containing 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310272 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321074 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310272 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310272 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1310272 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1321074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310272 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321074 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310272 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310274 Clk4 CDC-like kinase 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1310274 Clk4 CDC-like kinase 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1310274 Clk4 CDC-like kinase 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1321078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1310274 Clk4 CDC-like kinase 4 gene DOID:630 genetic disease ISO RGD:1321078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310275 Senp1 SUMO specific peptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1321080 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 1310275 Senp1 SUMO specific peptidase 1 gene DOID:865 vasculitis ISO RGD:1321080 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 1310275 Senp1 SUMO specific peptidase 1 gene DOID:9002514 Neointima ISO RGD:1321080 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 1310275 Senp1 SUMO specific peptidase 1 gene DOID:9004771 Vascular Remodeling ISO RGD:1321080 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 1310275 Senp1 SUMO specific peptidase 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:1321080 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 1310275 Senp1 SUMO specific peptidase 1 gene DOID:9744 type 1 diabetes mellitus ISS RGD:1321081 D RGD:13592920 20180518 MouseDO OMIM:222100 1310276 Lipt1 lipoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 1310276 Lipt1 lipoyltransferase 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1310276 Lipt1 lipoyltransferase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1310276 Lipt1 lipoyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1310276 Lipt1 lipoyltransferase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 1310276 Lipt1 lipoyltransferase 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:7240710 20200527 OMIM 1310276 Lipt1 lipoyltransferase 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:25787132|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 1310277 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310277 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310277 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310277 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:630 genetic disease ISO RGD:1321083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310277 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310277 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:9870 galactosemia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310279 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:11181649|PMID:16010683|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25741868|PMID:26566957|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:32778825|PMID:34899149|PMID:35281663|PMID:9536098 1310279 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:7240710 20130221 OMIM 1310279 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:11170888|PMID:11181649|PMID:11406611|PMID:1293382|PMID:14680978|PMID:15877210|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:19706617|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22030835|PMID:22150417|PMID:22264772|PMID:22642865|PMID:22658692|PMID:24516753|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:26589311|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28018443|PMID:28492532|PMID:29247206|PMID:29767664|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:31901042|PMID:32778825|PMID:33423264|PMID:34440436|PMID:34899149|PMID:35281663|PMID:7128647|PMID:8598650|PMID:9536098|PMID:9544913 1310279 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:630 genetic disease ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11181649|PMID:17908719|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:26566957|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:29247206|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31847883|PMID:32778825|PMID:34440436|PMID:34899149|PMID:35281663 1310279 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352586 D RGD:2316864|PMID:11170888 20100302 RGD DNA:missense mutations, frameshift mutations:multiple (human) 1310279 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352586 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310281 C2cd2l C2CD2-like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1321089 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0080690 RASopathy ISO RGD:1321089 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0110651 long QT syndrome 10 ISO RGD:1321089 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1321089 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0111971 immunodeficiency 18 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0111972 immunodeficiency 19 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:0111973 immunodeficiency 17 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1310281 C2cd2l C2CD2-like gene DOID:5419 schizophrenia ISO RGD:1321089 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310281 C2cd2l C2CD2-like gene DOID:630 genetic disease ISO RGD:1321089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310281 C2cd2l C2CD2-like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321089 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310281 C2cd2l C2CD2-like gene DOID:9007661 Dwarfism ISO RGD:1321089 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310282 Ehf ets homologous factor gene DOID:1059 intellectual disability ISO RGD:1321091 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310282 Ehf ets homologous factor gene DOID:630 genetic disease ISO RGD:1321091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310282 Ehf ets homologous factor gene DOID:7693 abdominal aortic aneurysm treatment IMP D RGD:1581123|PMID:14662712 20150323 RGD 1310282 Ehf ets homologous factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1310284 Zer1 zyg-11 related, cell cycle regulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310284 Zer1 zyg-11 related, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1321095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310285 Adgrf1 adhesion G protein-coupled receptor F1 gene DOID:630 genetic disease ISO RGD:1321097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602120 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0090019 sitosterolemia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21576934|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34505049|PMID:34969652|PMID:9536098 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:17576681|PMID:26077881|PMID:26130459|PMID:28492532|PMID:32815859|PMID:9536098 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602120 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:1588 thrombocytopenia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:2213 hemorrhagic disease ISO RGD:1602120 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9001723 Sitosterolemia 2 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34355501|PMID:34505049|PMID:34969652 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9002547 Sitosterolemia 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34969652 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:7240710 20190315 OMIM 1310286 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:17576681|PMID:25741868|PMID:26077881|PMID:26130459|PMID:28492532|PMID:28857138|PMID:32815859|PMID:8960501|PMID:9536098 1310287 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1310287 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321100 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1310287 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0080600 COVID-19 ISO RGD:1321100 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310287 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1310287 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:630 genetic disease ISO RGD:1321100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310287 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:9467 nail-patella syndrome ISO RGD:1321100 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 1310289 Psd4 pleckstrin and Sec7 domain containing 4 gene DOID:630 genetic disease ISO RGD:1321104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310291 Snx2 sorting nexin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310291 Snx2 sorting nexin 2 gene DOID:630 genetic disease ISO RGD:1321108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310291 Snx2 sorting nexin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321108 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310291 Snx2 sorting nexin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310291 Snx2 sorting nexin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321108 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 1310292 Bicdl1 BICD family like cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1603186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1321111 D RGD:2314971|PMID:19904269 20091210 RGD 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:2871 endometrial carcinoma ISO RGD:1321111 D RGD:2298984|PMID:14751175 20091210 RGD mRNA:increased expression:endometrium 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:4971 myelofibrosis ISS RGD:1321112 D RGD:13592920 20180518 MouseDO OMIM:254450 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:630 genetic disease ISO RGD:1321111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1321111 D RGD:1625347|PMID:15334463 20070604 RGD 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321111 D RGD:8693397|PMID:23759327 20140715 RGD 1310293 Ncor2 nuclear receptor co-repressor 2 gene DOID:9538 multiple myeloma ISO RGD:1321111 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1310294 Perp p53 apoptosis effector related to PMP22 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1321113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1310294 Perp p53 apoptosis effector related to PMP22 gene DOID:630 genetic disease ISO RGD:1321113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310294 Perp p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 1310294 Perp p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 PMID:30321533|PMID:31898316 1310294 Perp p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 1310294 Perp p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 2 PMID:30321533|PMID:31361044 1310295 Gypc glycophorin C gene DOID:0060224 atrial fibrillation ISO RGD:1321115 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1310295 Gypc glycophorin C gene DOID:12365 malaria ISO RGD:1321115 D RGD:7240710 20230505 OMIM 1310295 Gypc glycophorin C gene DOID:12365 malaria ISO RGD:1321115 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:11719395|PMID:12469115|PMID:1991173|PMID:21061946|PMID:5011657|PMID:8157284 1310295 Gypc glycophorin C gene DOID:630 genetic disease ISO RGD:1321115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310296 Med6 mediator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1321116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310297 Ube2o ubiquitin-conjugating enzyme E2O gene DOID:630 genetic disease ISO RGD:1606786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310298 Hoxb1 homeo box B1 gene DOID:630 genetic disease ISO RGD:1321119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310298 Hoxb1 homeo box B1 gene DOID:9001799 Hereditary Congenital Facial Paresis ISO RGD:1321119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1310298 Hoxb1 homeo box B1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 1310298 Hoxb1 homeo box B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:7240710 20140911 OMIM 1310298 Hoxb1 homeo box B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 PMID:22770981|PMID:25741868|PMID:26007620|PMID:26467025|PMID:27144914|PMID:28492532 1310298 Hoxb1 homeo box B1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10652 Alzheimer's disease ISS RGD:1321122 D RGD:13592920 20180518 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10763 hypertension ISO RGD:1321122 D RGD:8693428|PMID:21810655 20140715 RGD 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12466 secondary hyperparathyroidism IDA D RGD:8693427|PMID:19770516 20140715 RGD associated with Kidney Failure, Chronic 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12849 autistic disorder ISO RGD:1321121 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma IMP D RGD:8693422|PMID:18188456 20140715 RGD 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:630 genetic disease ISO RGD:1321121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9000918 Disease Progression ISO RGD:1321121 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9002514 Neointima ISO RGD:1321122 D RGD:8693429|PMID:20307651 20140715 RGD 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321122 D RGD:8693424|PMID:23487407 20140715 RGD 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9004283 Transplant Rejection IMP D RGD:8693431|PMID:17311089 20140715 RGD 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:8693420|PMID:22064478 20140715 RGD 1310299 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1321121 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19671742|PMID:19681904|PMID:32621833 1310301 Cops5 COP9 signalosome subunit 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1321125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1310301 Cops5 COP9 signalosome subunit 5 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1321125 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 1310301 Cops5 COP9 signalosome subunit 5 gene DOID:630 genetic disease ISO RGD:1321125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310301 Cops5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1321125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 1310301 Cops5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321125 D RGD:11354707|PMID:26606000 20220705 RGD protein:increased expression:liver (human) 1310301 Cops5 COP9 signalosome subunit 5 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:11354707|PMID:26606000 20220705 RGD protein:increased expression:liver (rat) 1310304 Fam120b family with sequence similarity 120B gene DOID:13938 amenorrhea ISO RGD:1321130 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310304 Fam120b family with sequence similarity 120B gene DOID:630 genetic disease ISO RGD:1321130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:0110266 cataract 9 multiple types ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:14268 sclerosing cholangitis ISO RGD:1321132 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992413 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:630 genetic disease ISO RGD:1321132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:9263 homocystinuria ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1310305 Ubash3a ubiquitin associated and SH3 domain containing, A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310306 Mtmr4 myotubularin related protein 4 gene DOID:0050777 Joubert syndrome ISO RGD:1321134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1310306 Mtmr4 myotubularin related protein 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1321134 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 1310306 Mtmr4 myotubularin related protein 4 gene DOID:1790 malignant mesothelioma ISO RGD:1321134 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1310306 Mtmr4 myotubularin related protein 4 gene DOID:630 genetic disease ISO RGD:1321134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310306 Mtmr4 myotubularin related protein 4 gene DOID:767 muscular atrophy IEP D RGD:7242174|PMID:19125695 20130327 RGD protein:decreased expression:gastrocnemius 1310308 Ptcd2 pentatricopeptide repeat domain 2 gene DOID:630 genetic disease ISO RGD:1321137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310308 Ptcd2 pentatricopeptide repeat domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321137 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1321139 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1321139 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1321139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1321139 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:12849 autistic disorder ISO RGD:1321139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:12858 Huntington's disease IDA D RGD:13524507|PMID:2527078 20180411 RGD 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:1882 atrial heart septal defect ISO RGD:1321139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:5419 schizophrenia ISO RGD:1321139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1321139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321139 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310309 Qprt quinolinate phosphoribosyltransferase gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1321139 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1310310 Kif7 kinesin family member 7 gene DOID:0050753 cerebellar ataxia ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29286531 1310310 Kif7 kinesin family member 7 gene DOID:0050777 Joubert syndrome ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:21633164|PMID:25741868|PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1343265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 1310310 Kif7 kinesin family member 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1343265 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:21552264|PMID:25741868|PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:0060340 ciliopathy ISS RGD:1321141 D RGD:13592920 20180518 MouseDO 1310310 Kif7 kinesin family member 7 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1343265 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1310310 Kif7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:7240710 20140911 OMIM 1310310 Kif7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 2 PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:1059 intellectual disability ISO RGD:1343265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1310310 Kif7 kinesin family member 7 gene DOID:1059 intellectual disability ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21552264|PMID:21633164|PMID:25741868|PMID:26092869|PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:12712 nephronophthisis ISO RGD:1343265 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:21552264|PMID:25741868|PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:2717 Bloom syndrome ISO RGD:1343265 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:11553839|PMID:25921351 20161014 RGD mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; 1310310 Kif7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:1321141 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 1310310 Kif7 kinesin family member 7 gene DOID:630 genetic disease ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26648833|PMID:28492532|PMID:29915382 1310310 Kif7 kinesin family member 7 gene DOID:674 cleft palate ISO RGD:1343265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 1310310 Kif7 kinesin family member 7 gene DOID:9000923 Joubert Syndrome 12 ISO RGD:1343265 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12 PMID:21633164|PMID:22246503 1310310 Kif7 kinesin family member 7 gene DOID:9001875 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency ISO RGD:1343265 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency PMID:25741868 1310310 Kif7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:7240710 20190315 OMIM 1310310 Kif7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies PMID:21552264|PMID:22587682|PMID:25741868|PMID:28492532|PMID:9689990 1310310 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:11068757|PMID:21552264 20161013 RGD DNA:missense,frameshift mutations:cds: 1310310 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:11553832|PMID:23125460 20161013 RGD DNA:mutations:cds,splice junction: 1310310 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 1310310 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:7240710 20130731 OMIM 1310310 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22246503|PMID:22587682|PMID:23125460|PMID:24033266|PMID:24339784|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29915382|PMID:30315573|PMID:31399769|PMID:32164589|PMID:32738303|PMID:9536098 1310310 Kif7 kinesin family member 7 gene DOID:9256 colorectal cancer ISO RGD:1343265 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310310 Kif7 kinesin family member 7 gene DOID:9296 cleft lip ISO RGD:1343265 D RGD:11553833|PMID:26602496 20161013 RGD DNA:SNPs:introns:rs4932238,rs4932240(human) 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19052621|PMID:24498942 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321142 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1321142 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:28492532 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:7240710 20190315 OMIM 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32638265 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321142 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:630 genetic disease ISO RGD:1321142 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310311 Dnaaf2 dynein, axonemal, assembly factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32719396|PMID:9536098 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321144 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0080600 COVID-19 ISO RGD:1321144 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:7240710 20150408 OMIM 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:22859821|PMID:24033266|PMID:25307056|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:32402279|PMID:9536098|PMID:9683594 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:0111935 immunodeficiency 16 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:1470 major depressive disorder ISO RGD:1321144 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:630 genetic disease ISO RGD:1321144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:684 hepatocellular carcinoma ISO RGD:1321144 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:9001488 Human Influenza ISO RGD:1321144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1321144 D RGD:40400915|PMID:28036111 20201105 RGD 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321144 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5490977|PMID:20973890 20120321 RGD 1310312 Isg15 ISG15 ubiquitin-like modifier gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310313 Tmem59 transmembrane protein 59 gene DOID:630 genetic disease ISO RGD:1321145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310313 Tmem59 transmembrane protein 59 gene DOID:9002239 Estrogen Resistance ISO RGD:1321145 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:0111254 glutaric acidemia I ISO RGD:1321146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:3413 alpha-mannosidosis ISO RGD:1321146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:630 genetic disease ISO RGD:1321146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:7240710 20200930 OMIM 1310314 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 PMID:25741868|PMID:31355908 1310315 Prox2 prospero homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1606668 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310315 Prox2 prospero homeobox 2 gene DOID:630 genetic disease ISO RGD:1606668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310316 Pabir1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 gene DOID:630 genetic disease ISO RGD:1321149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310317 Kbtbd2 kelch repeat and BTB domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321151 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310317 Kbtbd2 kelch repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1321151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310318 Cnot4 CCR4-NOT transcription complex, subunit 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321153 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310318 Cnot4 CCR4-NOT transcription complex, subunit 4 gene DOID:630 genetic disease ISO RGD:1321153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310320 Tmem177 transmembrane protein 177 gene DOID:630 genetic disease ISO RGD:1606772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310321 Me2 malic enzyme 2 gene DOID:1059 intellectual disability ISO RGD:1321157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310321 Me2 malic enzyme 2 gene DOID:630 genetic disease ISO RGD:1321157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310321 Me2 malic enzyme 2 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:151361111|PMID:23794090 20220223 RGD mRNA:increased expression:right and right ventricles 1310322 Slc39a5 solute carrier family 39 member 5 gene DOID:630 genetic disease ISO RGD:1321159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310322 Slc39a5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:7240710 20170329 OMIM 1310322 Slc39a5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 24, autosomal dominant PMID:24891338|PMID:25741868 1310323 Frmd8 FERM domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1602672 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310323 Frmd8 FERM domain containing 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310323 Frmd8 FERM domain containing 8 gene DOID:2746 glycogen storage disease V ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310323 Frmd8 FERM domain containing 8 gene DOID:3070 high grade glioma ISO RGD:1602672 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1310323 Frmd8 FERM domain containing 8 gene DOID:630 genetic disease ISO RGD:1602672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310323 Frmd8 FERM domain containing 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602672 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310323 Frmd8 FERM domain containing 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32719396|PMID:33713115 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1606167 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:5223 infertility ISO RGD:1606167 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infertility 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:630 genetic disease ISO RGD:1606167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:9002412 Ovarian Dysgenesis 10 ISO RGD:1606167 D RGD:7240710 20220427 OMIM 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:9002412 Ovarian Dysgenesis 10 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 10 PMID:25741868|PMID:32719396|PMID:33713115|PMID:34402903 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:9004400 Spermatogenic Failure 71 ISO RGD:1606167 D RGD:7240710 20220427 OMIM 1310324 Zswim7 zinc finger, SWIM-type containing 7 gene DOID:9004400 Spermatogenic Failure 71 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 71 PMID:25741868|PMID:32719396|PMID:33713115 1310325 Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1321163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1310325 Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321163 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310325 Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:630 genetic disease ISO RGD:1321163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310326 Ccdc28a coiled-coil domain containing 28A gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1310326 Ccdc28a coiled-coil domain containing 28A gene DOID:2661 myoepithelioma ISO RGD:1351078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1310326 Ccdc28a coiled-coil domain containing 28A gene DOID:630 genetic disease ISO RGD:1351078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310328 Pcdhb22 protocadherin beta 22 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321168 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310328 Pcdhb22 protocadherin beta 22 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310328 Pcdhb22 protocadherin beta 22 gene DOID:630 genetic disease ISO RGD:1321168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310328 Pcdhb22 protocadherin beta 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321168 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310328 Pcdhb22 protocadherin beta 22 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310329 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:630 genetic disease ISO RGD:1321170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310329 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321170 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1310329 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321170 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310330 Slc38a6 solute carrier family 38, member 6 gene DOID:630 genetic disease ISO RGD:1321172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321175 D RGD:11558016|PMID:20029941 20161107 RGD mRNA:increased expression:blood (human) 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1321175 D RGD:11558013|PMID:24442360 20161107 RGD DNA:snp:exon:c.2458G>A (rs7170637) (human) 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321175 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1321175 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1321175 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1321175 D RGD:11558012|PMID:17435464 20161107 RGD associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1321175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1321175 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:14261 fragile X syndrome ISO RGD:1321176 D RGD:11558008|PMID:22900020 20161107 RGD 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1321175 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:11568065|PMID:26000921 20161208 RGD mRNA, protein:increased expression:hippocampus, cerebral cortex (rat) 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1321175 D RGD:11558009|PMID:20298200 20161107 RGD DNA:deletion:cds: (human) 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1321175 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310332 Cyfip1 cytoplasmic FMR1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321175 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1310333 Itga3 integrin subunit alpha 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1321177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 1310333 Itga3 integrin subunit alpha 3 gene DOID:11162 respiratory failure ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:25741868 1310333 Itga3 integrin subunit alpha 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Bronchopulmonary dysplasia PMID:25741868 1310333 Itga3 integrin subunit alpha 3 gene DOID:1184 nephrotic syndrome ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:22512483|PMID:29127259 1310333 Itga3 integrin subunit alpha 3 gene DOID:2355 anemia ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 1310333 Itga3 integrin subunit alpha 3 gene DOID:2712 phimosis ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Phimosis PMID:25741868 1310333 Itga3 integrin subunit alpha 3 gene DOID:2921 glomerulonephritis IEP D RGD:2325666|PMID:19662603 20100604 RGD protein:decreased expression:glomerulus (rat) 1310333 Itga3 integrin subunit alpha 3 gene DOID:5844 myocardial infarction IEP D RGD:2325287|PMID:19041328 20100528 RGD protein:increased expression:myocardium (rat) 1310333 Itga3 integrin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1321177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310333 Itga3 integrin subunit alpha 3 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 1310333 Itga3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia IMP D RGD:2302139|PMID:15836982 20081120 RGD knock-down using a specific monoclonal antibody or RNAi 1310333 Itga3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia IMP D RGD:2302389|PMID:14984413 20110711 RGD 1310333 Itga3 integrin subunit alpha 3 gene DOID:9003936 Cardiomegaly IEP D RGD:2325829|PMID:1835909 20100611 RGD protein:increased expression:cardiac myocyte (rat) 1310333 Itga3 integrin subunit alpha 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325818|PMID:20525748 20100610 RGD protein:decreased expression:renal cortex (rat) 1310333 Itga3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:7240710 20140911 OMIM 1310333 Itga3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital PMID:22512483|PMID:24088041|PMID:25741868|PMID:25810266|PMID:26633545|PMID:28492532|PMID:29127259 1310333 Itga3 integrin subunit alpha 3 gene DOID:9007356 Eczema ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868 1310333 Itga3 integrin subunit alpha 3 gene DOID:9007764 Penoscrotal Transposition ISO RGD:1321177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital transposition of the penis PMID:25741868 1310335 Cip2a cellular inhibitor of PP2A gene DOID:630 genetic disease ISO RGD:1343416 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321181 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321181 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321181 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321181 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:1205 allergic disease ISO RGD:1321181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1321181 D RGD:5130912|PMID:12626344 20110413 RGD mRNA, protein:increased expression:lung 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:13564 aspergillosis ISO RGD:1321182 D RGD:5130908|PMID:19783686 20110413 RGD associated with Neutropenia;mRNA:increased expression:lung 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:2841 asthma ISO RGD:1321181 D RGD:5130911|PMID:16959919 20110413 RGD protein:increased expression:bronchus submucosa, mast cell 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:2957 pulmonary tuberculosis ISO RGD:1321182 D RGD:5130906|PMID:19933855 20110413 RGD mRNA:increased expression:lung 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:3042 allergic contact dermatitis ISO RGD:1321181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:3770 pulmonary fibrosis ISO RGD:1321181 D RGD:5130910|PMID:17717200 20110413 RGD mRNA:increased expression:lung 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:4483 rhinitis ISO RGD:1321182 D RGD:5130909|PMID:17947663 20110413 RGD 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:552 pneumonia ISO RGD:1321181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:630 genetic disease ISO RGD:1321181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:874 bacterial pneumonia ISO RGD:1321182 D RGD:5130918|PMID:20176793 20110414 RGD mRNA, protein:increased expression:lung 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321181 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310336 Ccl19 C-C motif chemokine ligand 19 gene DOID:9870 galactosemia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310337 Papolg poly(A) polymerase gamma gene DOID:630 genetic disease ISO RGD:1321183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310339 Hacd4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:5419 schizophrenia ISO RGD:1601904 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310339 Hacd4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:630 genetic disease ISO RGD:1601904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310340 Dhx57 DExH-box helicase 57 gene DOID:0080690 RASopathy ISO RGD:1321188 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310340 Dhx57 DExH-box helicase 57 gene DOID:3883 Lynch syndrome ISO RGD:1321188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1310340 Dhx57 DExH-box helicase 57 gene DOID:630 genetic disease ISO RGD:1321188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310340 Dhx57 DExH-box helicase 57 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321188 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310341 Kptn kaptin (actin binding protein) gene DOID:0080600 COVID-19 ISO RGD:1321189 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310341 Kptn kaptin (actin binding protein) gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:7240710 20140911 OMIM 1310341 Kptn kaptin (actin binding protein) gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:31345272|PMID:32238909|PMID:32358097|PMID:32808430|PMID:9536098 1310341 Kptn kaptin (actin binding protein) gene DOID:1059 intellectual disability ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909|PMID:32808430 1310341 Kptn kaptin (actin binding protein) gene DOID:630 genetic disease ISO RGD:1321189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1310342 Shprh SNF2 histone linker PHD RING helicase gene DOID:630 genetic disease ISO RGD:1321190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310343 Dclre1b DNA cross-link repair 1B gene DOID:0080690 RASopathy ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310343 Dclre1b DNA cross-link repair 1B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532 1310343 Dclre1b DNA cross-link repair 1B gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1321192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:25741868 1310343 Dclre1b DNA cross-link repair 1B gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 1310343 Dclre1b DNA cross-link repair 1B gene DOID:630 genetic disease ISO RGD:1321192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310343 Dclre1b DNA cross-link repair 1B gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:17576681|PMID:28492532|PMID:35007328|PMID:9536098 1310343 Dclre1b DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:7240710 20221214 OMIM 1310343 Dclre1b DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8 PMID:28492532|PMID:35007328 1310344 Mesd mesoderm development LRP chaperone gene DOID:0050726 tyrosinemia type I ISO RGD:1321194 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 1310344 Mesd mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:7240710 20191030 OMIM 1310344 Mesd mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 PMID:31564437|PMID:33596325 1310344 Mesd mesoderm development LRP chaperone gene DOID:2717 Bloom syndrome ISO RGD:1321194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310344 Mesd mesoderm development LRP chaperone gene DOID:630 genetic disease ISO RGD:1321194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310344 Mesd mesoderm development LRP chaperone gene DOID:9256 colorectal cancer ISO RGD:1321194 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310345 Dhx38 DEAH-box helicase 38 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310345 Dhx38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:7240710 20190315 OMIM 1310345 Dhx38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 84 PMID:24737827|PMID:25741868|PMID:28492532|PMID:30208423 1310345 Dhx38 DEAH-box helicase 38 gene DOID:10584 retinitis pigmentosa ISO RGD:1321196 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30208423 1310345 Dhx38 DEAH-box helicase 38 gene DOID:10584 retinitis pigmentosa ISO RGD:1321196 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30208423 1310345 Dhx38 DEAH-box helicase 38 gene DOID:630 genetic disease ISO RGD:1321196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310346 Slc37a3 solute carrier family 37, member 3 gene DOID:0080690 RASopathy ISO RGD:1321198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1310346 Slc37a3 solute carrier family 37, member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321198 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310346 Slc37a3 solute carrier family 37, member 3 gene DOID:630 genetic disease ISO RGD:1321198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:0050952 spastic ataxia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:34445196 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:27316240|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:33059505|PMID:33083013|PMID:34852264 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:7240710 20130221 OMIM 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19068277|PMID:20104589|PMID:20853438|PMID:22146942|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25326637|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:30446360|PMID:30532373|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:32624042|PMID:32907636|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:9536098 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25741868|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:31135052|PMID:31429931|PMID:32624042|PMID:33144682 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:2565 macular corneal dystrophy ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:607 paraplegia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:20104589|PMID:20853438|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27165006|PMID:27217339|PMID:27316240|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:29980238|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31227335|PMID:31407473|PMID:31429931|PMID:31628766|PMID:32624042|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:9536098 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:630 genetic disease ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24299421|PMID:25741868|PMID:28492532|PMID:29980238|PMID:31135052|PMID:31227335|PMID:31429931|PMID:31628766|PMID:33144682 1310347 Fa2h fatty acid 2-hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318772 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:0050473 Alstrom syndrome ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:28492532 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606461 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:1059 intellectual disability ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:11372 megacolon ISO RGD:1606461 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:12849 autistic disorder ISO RGD:1606461 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:1826 epilepsy ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:2213 hemorrhagic disease ISO RGD:1606461 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:5419 schizophrenia ISO RGD:1606461 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606461 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:630 genetic disease ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26805781|PMID:28492532 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9003871 Venous Thrombosis ISO RGD:1606461 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606461 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1606461 D RGD:7240710 20190315 OMIM 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26805781|PMID:26805782|PMID:27711071|PMID:28492532|PMID:29369572|PMID:30245509|PMID:30650451|PMID:31276219|PMID:31339582|PMID:32573669|PMID:32576985|PMID:32929747|PMID:9536098 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9007661 Dwarfism ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606461 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1310348 Tango2 transport and golgi organization 2 homolog gene DOID:963 episodic ataxia ISO RGD:1606461 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:32581362 1310351 Efcab14 EF-hand calcium binding domain 14 gene DOID:630 genetic disease ISO RGD:1605111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310352 C10h5orf15 similar to human chromosome 5 open reading frame 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310352 C10h5orf15 similar to human chromosome 5 open reading frame 15 gene DOID:630 genetic disease ISO RGD:1321206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310352 C10h5orf15 similar to human chromosome 5 open reading frame 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321206 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310352 C10h5orf15 similar to human chromosome 5 open reading frame 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:0050444 infantile Refsum disease ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:7240710 20140911 OMIM 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B PMID:10704444|PMID:20826455|PMID:22581968|PMID:25741868|PMID:28129423|PMID:28492532|PMID:31724321 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1321208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1321208 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:5419 schizophrenia ISO RGD:1321208 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:630 genetic disease ISO RGD:1321208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:83 cataract ISO RGD:1321208 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Congenital cataract 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:905 Zellweger syndrome ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:905 Zellweger syndrome ISS RGD:1321209 D RGD:13592920 20180518 MouseDO OMIM:214100 1310353 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321208 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310354 Usp22 ubiquitin specific peptidase 22 gene DOID:630 genetic disease ISO RGD:1321210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310355 Msl2 MSL complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1343514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1310355 Msl2 MSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1343514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310355 Msl2 MSL complex subunit 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343514 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1310356 Tnpo2 transportin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321214 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1310356 Tnpo2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:7240710 20211215 OMIM 1310356 Tnpo2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition PMID:25741868|PMID:34314705 1310356 Tnpo2 transportin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1310356 Tnpo2 transportin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1310356 Tnpo2 transportin 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1310356 Tnpo2 transportin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1321214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1310356 Tnpo2 transportin 2 gene DOID:630 genetic disease ISO RGD:1321214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310357 Ubash3b ubiquitin associated and SH3 domain containing, B gene DOID:5419 schizophrenia ISO RGD:1605914 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310357 Ubash3b ubiquitin associated and SH3 domain containing, B gene DOID:630 genetic disease ISO RGD:1605914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310357 Ubash3b ubiquitin associated and SH3 domain containing, B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605914 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310357 Ubash3b ubiquitin associated and SH3 domain containing, B gene DOID:9007661 Dwarfism ISO RGD:1605914 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310358 Uri1 URI1, prefoldin-like chaperone gene DOID:305 carcinoma ISO RGD:1321217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 1310358 Uri1 URI1, prefoldin-like chaperone gene DOID:630 genetic disease ISO RGD:1321217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310358 Uri1 URI1, prefoldin-like chaperone gene DOID:9002170 Experimental Neoplasms ISO RGD:1321217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 1310358 Uri1 URI1, prefoldin-like chaperone gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 1310359 Ldb1 LIM domain binding 1 gene DOID:630 genetic disease ISO RGD:1321219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310359 Ldb1 LIM domain binding 1 gene DOID:9467 nail-patella syndrome ISS RGD:1321220 D RGD:13592920 20180518 MouseDO OMIM:161200 1310360 Kif18b kinesin family member 18B gene DOID:0080600 COVID-19 ISO RGD:2292085 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310360 Kif18b kinesin family member 18B gene DOID:1909 melanoma ISO RGD:2292085 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31617652 1310360 Kif18b kinesin family member 18B gene DOID:684 hepatocellular carcinoma ISO RGD:2292085 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310361 Samd4a sterile alpha motif domain containing 4A gene DOID:0090043 dystonia 5 ISO RGD:1321222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 1310361 Samd4a sterile alpha motif domain containing 4A gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 1310361 Samd4a sterile alpha motif domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1321222 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1310361 Samd4a sterile alpha motif domain containing 4A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321222 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 1310361 Samd4a sterile alpha motif domain containing 4A gene DOID:630 genetic disease ISO RGD:1321222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310362 Wdtc1 WD and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1321224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310364 Klhl32 kelch-like family member 32 gene DOID:630 genetic disease ISO RGD:1321228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310367 Snx18 sorting nexin 18 gene DOID:630 genetic disease ISO RGD:1321231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310367 Snx18 sorting nexin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321231 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310367 Snx18 sorting nexin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 1310369 Sfrp5 secreted frizzled-related protein 5 gene DOID:630 genetic disease ISO RGD:1321235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310369 Sfrp5 secreted frizzled-related protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 1310369 Sfrp5 secreted frizzled-related protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 1310370 Tlk1 tousled-like kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321237 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1310370 Tlk1 tousled-like kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1321237 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1310370 Tlk1 tousled-like kinase 1 gene DOID:630 genetic disease ISO RGD:1321237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310370 Tlk1 tousled-like kinase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1321237 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:17481512 1310371 Cfap161 cilia and flagella associated protein 161 gene DOID:2717 Bloom syndrome ISO RGD:1321239 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310371 Cfap161 cilia and flagella associated protein 161 gene DOID:630 genetic disease ISO RGD:1321239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310371 Cfap161 cilia and flagella associated protein 161 gene DOID:9256 colorectal cancer ISO RGD:1321239 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:7240710 20130221 OMIM 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2 PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:7920663|PMID:9536098 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:10907 microcephaly ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14676054|PMID:17576681|PMID:18852346|PMID:20077034|PMID:23881933|PMID:25174650|PMID:25363768|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27790088|PMID:28407358|PMID:28492532|PMID:28714951|PMID:28832565|PMID:31182772|PMID:34011629|PMID:9536098 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11586298|PMID:16199547|PMID:24315819|PMID:25741868|PMID:28492532|PMID:28832565 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:1321241 D RGD:1599080|PMID:11586297 20070116 RGD 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:630 genetic disease ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:7319 axonal neuropathy ISO RGD:1321241 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:26467025|PMID:28492532 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1321241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:7920663|PMID:9536098 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321241 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321241 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:7240710 20130221 OMIM 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile primary lateral sclerosis | ClinVar Annotator: match by term: PLS juvenile PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:19122027|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27601211|PMID:28492532|PMID:31182772|PMID:32214227 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:7240710 20130221 OMIM 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending PMID:11586297|PMID:11586298|PMID:12145748|PMID:12509863|PMID:12919135|PMID:14676054|PMID:16199547|PMID:16718699|PMID:17576681|PMID:18523452|PMID:18852346|PMID:20077034|PMID:22152675|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25302125|PMID:25363768|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:26742954|PMID:27159321|PMID:27601211|PMID:27790088|PMID:28160950|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28709720|PMID:28714951|PMID:28832565|PMID:29605155|PMID:30054184|PMID:30128655|PMID:30224357|PMID:30581417|PMID:31182772|PMID:31405128|PMID:32214227|PMID:33409823|PMID:33589474|PMID:34011629|PMID:9536098 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321241 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 1310372 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive PMID:25741868|PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:0080422 Dravet syndrome ISO RGD:1321243 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321243 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310373 Tuft1 tuftelin 1 gene DOID:630 genetic disease ISO RGD:1321243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310373 Tuft1 tuftelin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321243 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310374 Fbxo9 f-box protein 9 gene DOID:630 genetic disease ISO RGD:1321245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310374 Fbxo9 f-box protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321248 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321248 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:630 genetic disease ISO RGD:1321248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1321248 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321248 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310376 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:9870 galactosemia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310377 Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310377 Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1321250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1321254 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27150054 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1321254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1321254 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1321254 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:11446 sciatic neuropathy IEP D RGD:9835000|PMID:18667152 20150319 RGD protein:increased expression:sciatic nerve, axon, cytoplasm (rat) 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1321254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310380 Rangap1 RAN GTPase activating protein 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:9835414|PMID:24988324 20150325 RGD protein:increased expression:carotid artery, intima (rat) 1310381 Arsa arylsulfatase A gene DOID:0050952 spastic ataxia ISO RGD:1321256 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10477432|PMID:12809637|PMID:16678723|PMID:1671769|PMID:17560502|PMID:19815439|PMID:20339381|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:7866401 1310381 Arsa arylsulfatase A gene DOID:0060041 autism spectrum disorder ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 1310381 Arsa arylsulfatase A gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1321256 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1310381 Arsa arylsulfatase A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321256 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1310381 Arsa arylsulfatase A gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1321256 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1310381 Arsa arylsulfatase A gene DOID:10579 leukodystrophy ISO RGD:1321256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:10381328|PMID:14517960|PMID:1671769|PMID:20339381|PMID:23581857|PMID:25741868|PMID:28492532|PMID:7866401|PMID:8723680 1310381 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:1358434|PMID:15026521 19990101 RGD 1310381 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:1358435|PMID:15375602 19990101 RGD 1310381 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:7240710 20130221 OMIM 1310381 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34554397|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390 1310381 Arsa arylsulfatase A gene DOID:1059 intellectual disability ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10477432|PMID:11456299|PMID:11777924|PMID:11941485|PMID:15375602|PMID:15952986|PMID:16199547|PMID:16546179|PMID:1670590|PMID:1671769|PMID:18786133|PMID:19815439|PMID:20301309|PMID:20339381|PMID:21167507|PMID:25741868|PMID:26131420|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28296894|PMID:28492532|PMID:28762252|PMID:28923328|PMID:29457794|PMID:29915382|PMID:29961769|PMID:30026549|PMID:31186049|PMID:31967741|PMID:7815434|PMID:7825603|PMID:7866401|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 1310381 Arsa arylsulfatase A gene DOID:13938 amenorrhea ISO RGD:1321256 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310381 Arsa arylsulfatase A gene DOID:1459 hypothyroidism IDA D RGD:1599223|PMID:7901316 20070122 RGD 1310381 Arsa arylsulfatase A gene DOID:630 genetic disease ISO RGD:1321256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220151|PMID:10477432|PMID:10533072|PMID:11456299|PMID:12081727|PMID:12116203|PMID:12809637|PMID:14517960|PMID:15326627|PMID:15952986|PMID:16199547|PMID:16608548|PMID:1670590|PMID:1671769|PMID:1684088|PMID:16966551|PMID:17576681|PMID:18693274|PMID:18786133|PMID:19021637|PMID:19606494|PMID:20301309|PMID:20339381|PMID:21167507|PMID:23701968|PMID:24001781|PMID:25741868|PMID:25965562|PMID:26462614|PMID:26467025|PMID:26890752|PMID:28492532|PMID:28762252|PMID:28923328|PMID:30052522|PMID:30674982|PMID:31130284|PMID:31186049|PMID:31980526|PMID:32632536|PMID:33046606|PMID:33335837|PMID:34554397|PMID:7815434|PMID:7825603|PMID:7902317|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9536098|PMID:9600244 1310381 Arsa arylsulfatase A gene DOID:9002922 Pseudoarylsulfatase A Deficiency ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 1310381 Arsa arylsulfatase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10477432|PMID:11456299|PMID:15952986|PMID:16199547|PMID:1670590|PMID:1671769|PMID:18786133|PMID:20301309|PMID:21167507|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28923328|PMID:7815434|PMID:7825603|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 1310381 Arsa arylsulfatase A gene DOID:9006534 Nervous System Malformations ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 1310381 Arsa arylsulfatase A gene DOID:9007448 Autosomal Sideroblastic Anemia ISO RGD:1321256 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia PMID:25741868 1310381 Arsa arylsulfatase A gene DOID:9255 frontotemporal dementia ISO RGD:1321256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715 1310381 Arsa arylsulfatase A gene DOID:9273 citrullinemia ISO RGD:1321256 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:26467025|PMID:28492532 1310382 Cd163 CD163 molecule gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1321258 D RGD:127285796|PMID:15613100 20210630 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1321258 D RGD:42721976|PMID:23557330 20210225 RGD protein:increased expression:lymph node tumor (human) 1310382 Cd163 CD163 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1321258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1310382 Cd163 CD163 molecule gene DOID:0080208 non-alcoholic fatty liver disease exacerbates ISO RGD:1321258 D RGD:127345132|PMID:31027316 20210709 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1321258 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1310382 Cd163 CD163 molecule gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1321258 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1310382 Cd163 CD163 molecule gene DOID:0080600 COVID-19 ISO RGD:1321258 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310382 Cd163 CD163 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1321258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1310382 Cd163 CD163 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1321258 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1310382 Cd163 CD163 molecule gene DOID:0081292 traumatic brain injury IEP D RGD:127285798|PMID:22583855 20210630 RGD protein:increased expression:brain, macrophage (rat) 1310382 Cd163 CD163 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1321258 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1310382 Cd163 CD163 molecule gene DOID:10887 lepromatous leprosy ISO RGD:1321258 D RGD:39939078|PMID:22851198 20210628 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:10887 lepromatous leprosy exacerbates ISO RGD:1321258 D RGD:127345133|PMID:28355218 20210709 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:11077 brucellosis treatment ISO RGD:1321258 D RGD:149735531|PMID:32069255 20210721 RGD 1310382 Cd163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:127285679|PMID:25789628 20210628 RGD protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:127285683|PMID:29857122 20210628 RGD protein:increased expression:CD14-positive monocyte (human) 1310382 Cd163 CD163 molecule gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome exacerbates ISO RGD:1321258 D RGD:127345131|PMID:25392926 20210709 RGD protein:increased expression:CD14-positive, CD16-positive monocyte, blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:12365 malaria exacerbates ISO RGD:1321258 D RGD:127285797|PMID:22290142 20210630 RGD protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:12365 malaria severity ISO RGD:1321258 D RGD:149735529|PMID:18632918 20210721 RGD protein:altered expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:13141 uveitis IEP D RGD:2312506|PMID:19347047 20210630 RGD associated with Endotoxemia;protein:increased expression:iris (rat) 1310382 Cd163 CD163 molecule gene DOID:13254 diverticulitis of colon exacerbates ISO RGD:1321258 D RGD:40925945|PMID:21553154 20210628 RGD protein:increased expression:sigmoid colon (human) 1310382 Cd163 CD163 molecule gene DOID:1749 squamous cell carcinoma ISO RGD:1321258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1310382 Cd163 CD163 molecule gene DOID:2018 hyperinsulinism ISO RGD:1321258 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1310382 Cd163 CD163 molecule gene DOID:2280 hidradenitis suppurativa ISO RGD:1321258 D RGD:127285799|PMID:29603182 20210630 RGD protein:increased expression:dermis (human) 1310382 Cd163 CD163 molecule gene DOID:2394 ovarian cancer ameliorates ISO RGD:1321259 D RGD:149735527|PMID:31951251 20210721 RGD 1310382 Cd163 CD163 molecule gene DOID:2913 acute pancreatitis ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD associated with liver disease;protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:2921 glomerulonephritis ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD associated with liver disease;protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1321258 D RGD:127285801|PMID:27685837 20210630 RGD protein:increased expression:blood plasma, CD14-positive monocyte (human) 1310382 Cd163 CD163 molecule gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1321258 D RGD:127345136|PMID:27684274 20210709 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:1321258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1310382 Cd163 CD163 molecule gene DOID:3407 carotid artery disease ISO RGD:1321258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 1310382 Cd163 CD163 molecule gene DOID:3910 lung adenocarcinoma ISO RGD:1321258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1310382 Cd163 CD163 molecule gene DOID:4195 hyperglycemia ISO RGD:1321258 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1310382 Cd163 CD163 molecule gene DOID:4325 Ebola hemorrhagic fever exacerbates ISO RGD:1321258 D RGD:149735528|PMID:30666927 20210721 RGD protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:5082 liver cirrhosis ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1321258 D RGD:127285681|PMID:24623375 20210628 RGD associated with Chronic Hepatitis B, Chronic Hepatitis C;protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:526 human immunodeficiency virus infectious disease exacerbates ISO RGD:1321258 D RGD:127285682|PMID:23916293 20210628 RGD protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1321258 D RGD:149735575|PMID:24594990 20210727 RGD 1310382 Cd163 CD163 molecule gene DOID:552 pneumonia ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD associated with liver disease;protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:630 genetic disease ISO RGD:1321258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310382 Cd163 CD163 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1321258 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310382 Cd163 CD163 molecule gene DOID:8476 Whipple disease ISO RGD:1321258 D RGD:149735573|PMID:19664628 20210727 RGD protein:increased expression:duodenum, macrophage (human) 1310382 Cd163 CD163 molecule gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1321258 D RGD:127285680|PMID:23687420 20210628 RGD associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:1321258 D RGD:40925915|PMID:21602260 20210709 RGD associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human) 1310382 Cd163 CD163 molecule gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ameliorates ISO RGD:1603525 D RGD:9068941 20210702 RGD PMID:30745836|REF_RGD_ID:127285677 1310382 Cd163 CD163 molecule gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome susceptibility ISO RGD:14034736 D RGD:9068941 20210702 RGD PMID:27847356|PMID:31440241|REF_RGD_ID:127285645|REF_RGD_ID:127285676 1310382 Cd163 CD163 molecule gene DOID:9001553 Spinal Cord Compression disease_progression IEP D RGD:149735576|PMID:23775900 20210727 RGD protein:increased expression:gray matter of spinal cord, white matter of spinal cord (rat) 1310382 Cd163 CD163 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310382 Cd163 CD163 molecule gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 exacerbates ISO RGD:1321258 D RGD:127345135|PMID:23149357 20210709 RGD associated with Human Influenza;protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1321258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1310382 Cd163 CD163 molecule gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis exacerbates ISO RGD:1321258 D RGD:127285685|PMID:27094919 20210628 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9004017 Chronic Hepatitis C exacerbates ISO RGD:1321258 D RGD:149735574|PMID:26554542 20210727 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9004484 Sepsis ISO RGD:1321258 D RGD:127285802|PMID:24637679 20210630 RGD protein:increased expression:blood serum, CD-14 positive monocyte (human) 1310382 Cd163 CD163 molecule gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1321258 D RGD:127345132|PMID:31027316 20210709 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9007041 Actinobacillus Infections ISO RGD:14034736 D RGD:9068941 20210709 RGD protein:increased expression:lung (pig) PMID:33287430|REF_RGD_ID:127345134 1310382 Cd163 CD163 molecule gene DOID:9007329 Human Viral Hepatitis ISO RGD:1321258 D RGD:149735532|PMID:31687981 20210721 RGD associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1321258 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1310382 Cd163 CD163 molecule gene DOID:9007692 Insulin Resistance exacerbates ISO RGD:1321258 D RGD:149735574|PMID:26554542 20210727 RGD associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) 1310382 Cd163 CD163 molecule gene DOID:9007772 Abdominal Obesity exacerbates ISO RGD:1321258 D RGD:127345132|PMID:31027316 20210709 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9007874 Liver Failure ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9007874 Liver Failure ISO RGD:1321258 D RGD:127285684|PMID:24597777 20210628 RGD associated with hepatitis B;protein:increased expression:liver, peripheral blood mononuclear cell (human) 1310382 Cd163 CD163 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1321258 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1310382 Cd163 CD163 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9008885 Staphylococcal Infections exacerbates ISO RGD:1321259 D RGD:127285678|PMID:32199911 20210628 RGD 1310382 Cd163 CD163 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1321258 D RGD:127345130|PMID:32023254 20210709 RGD mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) 1310382 Cd163 CD163 molecule gene DOID:9146 visceral leishmaniasis exacerbates ISO RGD:1321258 D RGD:127345133|PMID:28355218 20210709 RGD protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1321258 D RGD:127285800|PMID:28395580 20210630 RGD protein:increased expression:nasopharynx, macrophage (human) 1310382 Cd163 CD163 molecule gene DOID:9452 fatty liver disease ISO RGD:1321258 D RGD:11251207|PMID:26339412 20210727 RGD associated with hepatitis B;protein:increased expression:blood serum (human) 1310382 Cd163 CD163 molecule gene DOID:9970 obesity ISO RGD:1321258 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 1310383 Pptc7 protein phosphatase targeting COQ7 gene DOID:630 genetic disease ISO RGD:1604734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310383 Pptc7 protein phosphatase targeting COQ7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1310384 Prr27 proline rich 27 gene DOID:630 genetic disease ISO RGD:1604909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310384 Prr27 proline rich 27 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310385 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1321262 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1310385 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:1059 intellectual disability ISO RGD:1321262 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310385 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1321262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310386 Ublcp1 ubiquitin-like domain containing CTD phosphatase 1 gene DOID:630 genetic disease ISO RGD:1605293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310386 Ublcp1 ubiquitin-like domain containing CTD phosphatase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605293 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1310387 Asb13 ankyrin repeat and SOCS box-containing 13 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1321264 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1310387 Asb13 ankyrin repeat and SOCS box-containing 13 gene DOID:5419 schizophrenia ISO RGD:1321264 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310387 Asb13 ankyrin repeat and SOCS box-containing 13 gene DOID:630 genetic disease ISO RGD:1321264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310388 Sap18 Sin3A associated protein 18 gene DOID:630 genetic disease ISO RGD:1321265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310389 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha gene DOID:1059 intellectual disability ISO RGD:1321266 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310389 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha gene DOID:630 genetic disease ISO RGD:1321266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310389 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:7240710 20190626 OMIM 1310389 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME PMID:25741868|PMID:28492532|PMID:31034465 1310389 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha gene DOID:9007661 Dwarfism ISO RGD:1321266 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Short stature PMID:31034465 1310389 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321266 D RGD:7243008|PMID:21127054 20130430 RGD mRNA:decreased expression:Islets of Langerhans 1310390 Phf19 PHD finger protein 19 gene DOID:630 genetic disease ISO RGD:1321268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310391 Lgi2 leucine-rich repeat LGI family, member 2 gene DOID:1826 epilepsy ISO RGD:12056737 D RGD:9068941 20230511 OMIA Epilepsy, benign familial juvenile PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:25945683|PMID:26931499 1310391 Lgi2 leucine-rich repeat LGI family, member 2 gene DOID:630 genetic disease ISO RGD:1321270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310392 Bend6 BEN domain containing 6 gene DOID:630 genetic disease ISO RGD:1321272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310395 Cavin4 caveolae associated protein 4 gene DOID:1059 intellectual disability ISO RGD:1606650 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310396 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:1599715|PMID:2331520 20070213 RGD 1310396 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:7240710 20130221 OMIM 1310396 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous porphyria PMID:11254675|PMID:12060141|PMID:15065102|PMID:15304101|PMID:16365260|PMID:16532394|PMID:1733834|PMID:1737856|PMID:19099412|PMID:19965637|PMID:21343304|PMID:21365124|PMID:21570665|PMID:21631301|PMID:22816431|PMID:2331520|PMID:23557135|PMID:23626549|PMID:25092523|PMID:25741868|PMID:27859603|PMID:28492532|PMID:30685241|PMID:30706587|PMID:31843562|PMID:34828434|PMID:7616657|PMID:7860775|PMID:8821859|PMID:8829650|PMID:8946173|PMID:9188670|PMID:9803266|PMID:9834209 1310396 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility IAGP D RGD:18937001|PMID:30454868 20200128 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple 1310396 Uros uroporphyrinogen III synthase gene DOID:630 genetic disease ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310397 Sdk2 sidekick cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1321280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310398 Ankrd23 ankyrin repeat domain 23 gene DOID:1059 intellectual disability ISO RGD:1321281 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310398 Ankrd23 ankyrin repeat domain 23 gene DOID:5419 schizophrenia ISO RGD:1321281 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310398 Ankrd23 ankyrin repeat domain 23 gene DOID:6000 congestive heart failure ISO RGD:1321281 D RGD:2314858|PMID:15238456 20091201 RGD associated with Cardiomyopathy, Congestive 1310398 Ankrd23 ankyrin repeat domain 23 gene DOID:630 genetic disease ISO RGD:1321281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310398 Ankrd23 ankyrin repeat domain 23 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2314859|PMID:12456686 20110311 RGD RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue 1310398 Ankrd23 ankyrin repeat domain 23 gene DOID:9775 diastolic heart failure ISO RGD:1321281 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605833 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33211200 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1605833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:7240710 20211222 OMIM 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 60 PMID:25741868|PMID:32741963|PMID:33211200 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:14227 azoospermia ISO RGD:1605833 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1310400 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:630 genetic disease ISO RGD:1605833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310402 Tns4 tensin 4 gene DOID:630 genetic disease ISO RGD:1605916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1321287 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:10395280|PMID:23455423 20150827 RGD DNA:missense mutation:cds:p.D290V (human) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:7240710 20190315 OMIM 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:10652 Alzheimer's disease ISO RGD:1321287 D RGD:9999191|PMID:22628224 20150410 RGD protein:decreased expression:entorhinal cortex (human) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:224 transient cerebral ischemia IEP D RGD:10041006|PMID:20421594 20150507 RGD protein:altered expression:cerebral cortex, hippocampus (rat) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1321287 D RGD:9685413|PMID:2846790 20150107 RGD antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321287 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4905 pancreatic carcinoma severity IEP D RGD:9587766|PMID:21472101 20150507 RGD protein:increased expression:pancreas (rat) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma IEP D RGD:9685423|PMID:23633480 20150107 RGD mRNA:increased expression:liver (rat) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321287 D RGD:9685422|PMID:20604928 20150107 RGD protein:increased expression:liver (human) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:7148 rheumatoid arthritis severity IDA D RGD:9685481|PMID:18025202 20150113 RGD 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9685410|PMID:18337374 20150107 RGD protein:increased expression:urinary bladder (rat) 1310403 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9255 frontotemporal dementia ISO RGD:1321287 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23455423|PMID:25741868 1310404 Cd248 CD248 molecule gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353954 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1310404 Cd248 CD248 molecule gene DOID:1059 intellectual disability ISO RGD:1353954 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310404 Cd248 CD248 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310404 Cd248 CD248 molecule gene DOID:2746 glycogen storage disease V ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310404 Cd248 CD248 molecule gene DOID:630 genetic disease ISO RGD:1353954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310404 Cd248 CD248 molecule gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310404 Cd248 CD248 molecule gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1321291 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1321291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:1059 intellectual disability ISO RGD:1321291 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:10907 microcephaly ISO RGD:1321291 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:1826 epilepsy ISO RGD:1321291 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:630 genetic disease ISO RGD:1321291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310405 Calhm5 calcium homeostasis modulator family member 5 gene DOID:9000495 Tremor ISO RGD:1321291 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1310406 Pkhd1l1 PKHD1 like 1 gene DOID:630 genetic disease ISO RGD:1321293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310408 Cc2d2b coiled-coil and C2 domain containing 2B gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1321297 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 1310408 Cc2d2b coiled-coil and C2 domain containing 2B gene DOID:630 genetic disease ISO RGD:1321297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310409 Ttc23 tetratricopeptide repeat domain 23 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1601741 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1310409 Ttc23 tetratricopeptide repeat domain 23 gene DOID:4501 orofaciodigital syndrome ISO RGD:1601741 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 1310411 Usp47 ubiquitin specific peptidase 47 gene DOID:1059 intellectual disability ISO RGD:1321301 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310411 Usp47 ubiquitin specific peptidase 47 gene DOID:630 genetic disease ISO RGD:1321301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310412 Zfp641 zinc finger protein 641 gene DOID:630 genetic disease ISO RGD:1606174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310413 Sirt4 sirtuin 4 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:9586052|PMID:20651844 20140925 RGD 1310413 Sirt4 sirtuin 4 gene DOID:12932 endomyocardial fibrosis ISO RGD:1321303 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 1310413 Sirt4 sirtuin 4 gene DOID:630 genetic disease ISO RGD:1321303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310413 Sirt4 sirtuin 4 gene DOID:9001981 Weight Loss ISO RGD:1321303 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:35134463 1310413 Sirt4 sirtuin 4 gene DOID:9003936 Cardiomegaly ISO RGD:1321303 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 1310413 Sirt4 sirtuin 4 gene DOID:9007692 Insulin Resistance IEP D RGD:9586052|PMID:20651844 20140925 RGD 1310414 Tti2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:7240710 20140911 OMIM 1310414 Tti2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:21937992|PMID:23956177|PMID:25741868|PMID:31737043|PMID:32061250 1310414 Tti2 TELO2 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1310414 Tti2 TELO2 interacting protein 2 gene DOID:10907 microcephaly ISO RGD:1604785 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1310414 Tti2 TELO2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310415 Rnase10 ribonuclease A family member 10 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1310415 Rnase10 ribonuclease A family member 10 gene DOID:630 genetic disease ISO RGD:1347818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310416 Zfp358 zinc finger protein 358 gene DOID:0080490 mucolipidosis type IV ISO RGD:1321306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1310416 Zfp358 zinc finger protein 358 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1321306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 1310416 Zfp358 zinc finger protein 358 gene DOID:630 genetic disease ISO RGD:1321306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:0050778 Meckel syndrome ISO RGD:1321308 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1321308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:21199751|PMID:22190900|PMID:23026208|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29068549 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:7240710 20150513 OMIM 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:16404586|PMID:17024374|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:28492532 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:7240710 20130221 OMIM 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18454448|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22190900|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25174843|PMID:25326635|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29456477|PMID:30881389|PMID:31645978|PMID:32369273|PMID:7218275|PMID:9536098 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome susceptibility ISO RGD:1321308 D RGD:1600212|PMID:12571802 20070302 RGD DNA:mutations 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:6678 tooth and nail syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 1310417 Evc2 EvC ciliary complex subunit 2 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1604368 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:1059 intellectual disability ISO RGD:1604368 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:11198 DiGeorge syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:11372 megacolon ISO RGD:1604368 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:12583 velocardiofacial syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1604368 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:1826 epilepsy ISO RGD:1604368 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:2213 hemorrhagic disease ISO RGD:1604368 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:5419 schizophrenia ISO RGD:1604368 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:612 primary immunodeficiency disease ISO RGD:1604368 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:630 genetic disease ISO RGD:1604368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:9003871 Venous Thrombosis ISO RGD:1604368 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604368 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310418 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:9007661 Dwarfism ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1310419 Nipsnap1 nipsnap homolog 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1321311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1310419 Nipsnap1 nipsnap homolog 1 gene DOID:630 genetic disease ISO RGD:1321311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310419 Nipsnap1 nipsnap homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1310420 Tyw1 tRNA-yW synthesizing protein 1 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345301 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310420 Tyw1 tRNA-yW synthesizing protein 1 homolog gene DOID:630 genetic disease ISO RGD:1345301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension IEP D RGD:11528851|PMID:26627607 20191107 RGD protein:increased expression:mesentary 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension treatment ISO RGD:1321315 D RGD:11528851|PMID:26627607 20191107 RGD 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:12236 primary biliary cholangitis IEP D RGD:11528851|PMID:26627607 20191107 RGD protein:increased expression:liver 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1321314 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321314 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:3068 glioblastoma disease_progression IMP D RGD:9685152|PMID:23360795 20141217 RGD 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1321314 D RGD:11528851|PMID:26627607 20191107 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:630 genetic disease ISO RGD:1321314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 1310421 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321314 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310422 Dcun1d4 defective in cullin neddylation 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1604387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310423 Vstm4 V-set and transmembrane domain containing 4 gene DOID:11372 megacolon ISO RGD:1321317 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310423 Vstm4 V-set and transmembrane domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1321317 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310423 Vstm4 V-set and transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1321317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310425 Fam221b family with sequence similarity 221, member B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321320 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:0080942 anauxetic dysplasia ISO RGD:1321320 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1321320 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321320 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:630 genetic disease ISO RGD:1321320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310425 Fam221b family with sequence similarity 221, member B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1321320 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310425 Fam221b family with sequence similarity 221, member B gene DOID:9870 galactosemia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310426 Paqr3 progestin and adipoQ receptor family member 3 gene DOID:630 genetic disease ISO RGD:1321322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310426 Paqr3 progestin and adipoQ receptor family member 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602125 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:7240710 20190315 OMIM 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder PMID:16199547|PMID:25741868|PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071|PMID:30577886|PMID:31904590|PMID:32092440|PMID:33236988|PMID:34426522 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:23105016|PMID:28492532 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522|PMID:9536098 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071|PMID:32092440 1310427 Emc1 ER membrane protein complex subunit 1 gene DOID:9970 obesity ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071 1310429 RGD1310429 similar to Protein Njmu-R1 gene DOID:630 genetic disease ISO RGD:1602870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310431 Siae sialic acid acetylesterase gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1310431 Siae sialic acid acetylesterase gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604014 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1310431 Siae sialic acid acetylesterase gene DOID:417 autoimmune disease ISO RGD:1604014 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310431 Siae sialic acid acetylesterase gene DOID:417 autoimmune disease ISO RGD:1604014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 PMID:20555325|PMID:22257840|PMID:23011869|PMID:23308225|PMID:28492532|PMID:28900629 1310431 Siae sialic acid acetylesterase gene DOID:417 autoimmune disease susceptibility ISO RGD:1604014 D RGD:7240710 20190502 OMIM 1310431 Siae sialic acid acetylesterase gene DOID:5419 schizophrenia ISO RGD:1604014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310431 Siae sialic acid acetylesterase gene DOID:630 genetic disease ISO RGD:1604014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310431 Siae sialic acid acetylesterase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604014 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310431 Siae sialic acid acetylesterase gene DOID:9007661 Dwarfism ISO RGD:1604014 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310432 Rdm1 RAD52 motif containing 1 gene DOID:630 genetic disease ISO RGD:1321329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310433 Setd5 SET domain containing 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1321331 D RGD:155804255|PMID:30655503 20230110 RGD 1310433 Setd5 SET domain containing 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1605381 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1310433 Setd5 SET domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1605381 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 1310433 Setd5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:7240710 20150708 OMIM 1310433 Setd5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: SETD5-Related Disorder PMID:18414213|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:26482601|PMID:28191889|PMID:28492532|PMID:28549204|PMID:28881385|PMID:28905509|PMID:28990276|PMID:29484850|PMID:31337854|PMID:31474762|PMID:33004838|PMID:34169511|PMID:34906502 1310433 Setd5 SET domain containing 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:25741868 1310433 Setd5 SET domain containing 5 gene DOID:0080918 polymicrogyria ISO RGD:1605381 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:32581362 1310433 Setd5 SET domain containing 5 gene DOID:10283 prostate cancer severity ISO RGD:1605381 D RGD:155804256|PMID:30616239 20230110 RGD 1310433 Setd5 SET domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1310433 Setd5 SET domain containing 5 gene DOID:10907 microcephaly ISO RGD:1605381 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1310433 Setd5 SET domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1605381 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 1310433 Setd5 SET domain containing 5 gene DOID:14780 KBG syndrome ISO RGD:1605381 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: KBG syndrome 1310433 Setd5 SET domain containing 5 gene DOID:1612 breast cancer ISO RGD:1605381 D RGD:155804257|PMID:35063407 20230110 RGD 1310433 Setd5 SET domain containing 5 gene DOID:2843 long QT syndrome ISO RGD:1605381 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1310433 Setd5 SET domain containing 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605381 D RGD:155804254|PMID:31981592 20230110 RGD 1310433 Setd5 SET domain containing 5 gene DOID:630 genetic disease ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24680889|PMID:25741868|PMID:26482601|PMID:28492532|PMID:28881385|PMID:34169511 1310433 Setd5 SET domain containing 5 gene DOID:6406 double outlet right ventricle ISO RGD:1321331 D RGD:155794379|PMID:34050709 20230109 RGD 1310433 Setd5 SET domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605381 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1310433 Setd5 SET domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28492532|PMID:28990276 1310433 Setd5 SET domain containing 5 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1605381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868 1310433 Setd5 SET domain containing 5 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 1310433 Setd5 SET domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605381 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1310433 Setd5 SET domain containing 5 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1605381 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 1310433 Setd5 SET domain containing 5 gene DOID:9008582 Developmental Disease ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1310433 Setd5 SET domain containing 5 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1310434 Neurod4 neuronal differentiation 4 gene DOID:630 genetic disease ISO RGD:1321332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310435 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:0111590 Cohen syndrome ISO RGD:1321334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1310435 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:289 endometriosis ISO RGD:1321334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1310435 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:5408 Paget's disease of bone ISO RGD:1321334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 1310435 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:630 genetic disease ISO RGD:1321334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310435 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:670 amphetamine abuse ISO RGD:1321334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1310436 Sema4g semaphorin 4G gene DOID:630 genetic disease ISO RGD:1321336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310437 Ddx47 DEAD-box helicase 47 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1310437 Ddx47 DEAD-box helicase 47 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1310437 Ddx47 DEAD-box helicase 47 gene DOID:1059 intellectual disability ISO RGD:1321338 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1310437 Ddx47 DEAD-box helicase 47 gene DOID:630 genetic disease ISO RGD:1321338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:0080600 COVID-19 ISO RGD:1604818 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1604818 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:630 genetic disease ISO RGD:1604818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1604818 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1310439 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604818 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310440 Meaf6 MYST/Esa1-associated factor 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604318 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1310440 Meaf6 MYST/Esa1-associated factor 6 gene DOID:630 genetic disease ISO RGD:1604318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:12849 autistic disorder ISO RGD:1321344 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:1485 cystic fibrosis ISO RGD:1321344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321344 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:630 genetic disease ISO RGD:1321344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:8437 intestinal obstruction ISO RGD:1321344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321344 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310441 Slc26a9 solute carrier family 26 member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321344 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310442 Tiprl TOR signaling pathway regulator gene DOID:0111942 immunodeficiency 25 ISO RGD:1605834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1310442 Tiprl TOR signaling pathway regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1605834 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310442 Tiprl TOR signaling pathway regulator gene DOID:630 genetic disease ISO RGD:1605834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310442 Tiprl TOR signaling pathway regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605834 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310444 Endod1 endonuclease domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602126 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310444 Endod1 endonuclease domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1602126 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1310444 Endod1 endonuclease domain containing 1 gene DOID:630 genetic disease ISO RGD:1602126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310445 Diras1 DIRAS family GTPase 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:12107474 D RGD:9068941 20210604 OMIA Epilepsy, generalized myoclonic, with photosensitivity PMID:28223533|PMID:29194766 1310445 Diras1 DIRAS family GTPase 1 gene DOID:630 genetic disease ISO RGD:1321350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310445 Diras1 DIRAS family GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321350 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310447 Irf5 interferon regulatory factor 5 gene DOID:0050211 swine influenza disease_progression ISO RGD:1321355 D RGD:40924628|PMID:29046356 20210114 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:0050521 Oropouche fever ISO RGD:1321355 D RGD:11075056|PMID:26468541 20210115 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 1310447 Irf5 interferon regulatory factor 5 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1321354 D RGD:40924562|PMID:27942586 20210113 RGD mRNA:increased expression:liver 1310447 Irf5 interferon regulatory factor 5 gene DOID:0080600 COVID-19 ISO RGD:1321354 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310447 Irf5 interferon regulatory factor 5 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1321354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 1310447 Irf5 interferon regulatory factor 5 gene DOID:0110895 inflammatory bowel disease 14 ISO RGD:1321354 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310447 Irf5 interferon regulatory factor 5 gene DOID:0110895 inflammatory bowel disease 14 susceptibility ISO RGD:1321354 D RGD:7240710 20230505 OMIM 1310447 Irf5 interferon regulatory factor 5 gene DOID:13603 obstructive jaundice IEP D RGD:10402168|PMID:21737101 20210118 RGD mRNA,protein:increased expression:liver,nucleus: 1310447 Irf5 interferon regulatory factor 5 gene DOID:1883 hepatitis C ISO RGD:1321354 D RGD:40924562|PMID:27942586 20210113 RGD mRNA:increased expression:liver 1310447 Irf5 interferon regulatory factor 5 gene DOID:1883 hepatitis C treatment ISO RGD:1321354 D RGD:40924642|PMID:28259968 20210115 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:2366 West Nile fever disease_progression ISO RGD:1321355 D RGD:40924561|PMID:25031348 20210113 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:2377 multiple sclerosis ISO RGD:1321354 D RGD:11055911|PMID:25392335 20210113 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1321354 D RGD:40924643|PMID:20861862 20210115 RGD DNA:SNPs: :rs3807306, rs4728142 (human) 1310447 Irf5 interferon regulatory factor 5 gene DOID:418 systemic scleroderma ISO RGD:1321354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 1310447 Irf5 interferon regulatory factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321354 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310447 Irf5 interferon regulatory factor 5 gene DOID:5082 liver cirrhosis ISO RGD:1321355 D RGD:40924562|PMID:27942586 20210113 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1321354 D RGD:40924562|PMID:27942586 20210113 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:5199 ureteral obstruction treatment IEP D RGD:40924651|PMID:31177020 20210118 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:552 pneumonia severity ISO RGD:1321354 D RGD:40907064|PMID:29847542 20210112 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:630 genetic disease ISO RGD:1321354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310447 Irf5 interferon regulatory factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1321354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1310447 Irf5 interferon regulatory factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1321354 D RGD:40924559|PMID:29352853 20210113 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1321354 D RGD:40924627|PMID:29379122 20210114 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1321354 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15657875|PMID:16642019|PMID:17599733|PMID:18063667 1310447 Irf5 interferon regulatory factor 5 gene DOID:820 myocarditis treatment ISO RGD:1321355 D RGD:40907063|PMID:31279856 20210112 RGD associated with Coxsackievirus Infections; 1310447 Irf5 interferon regulatory factor 5 gene DOID:848 arthritis ISO RGD:1321355 D RGD:40924631|PMID:32743529 20210114 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:8566 herpes simplex susceptibility ISO RGD:1321354 D RGD:40924643|PMID:20861862 20210115 RGD associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) 1310447 Irf5 interferon regulatory factor 5 gene DOID:8577 ulcerative colitis ISO RGD:1321354 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 1310447 Irf5 interferon regulatory factor 5 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:40924652|PMID:24968269 20210118 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:40924654|PMID:29927790 20210119 RGD protein:increased expression:spinal dorsal horn 1310447 Irf5 interferon regulatory factor 5 gene DOID:9006439 Electric Burns treatment ISO RGD:1321355 D RGD:40907061|PMID:28620671 20210112 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1321354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204446|PMID:19838193 1310447 Irf5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1321354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 PMID:15657875|PMID:16642019|PMID:17189288|PMID:17393452|PMID:17476532|PMID:17599733|PMID:18063667|PMID:25741868 1310447 Irf5 interferon regulatory factor 5 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1321354 D RGD:7240710 20190502 OMIM 1310447 Irf5 interferon regulatory factor 5 gene DOID:9146 visceral leishmaniasis ISO RGD:1321355 D RGD:40924560|PMID:32038622 20210113 RGD 1310447 Irf5 interferon regulatory factor 5 gene DOID:9146 visceral leishmaniasis ISO RGD:1321355 D RGD:40924629|PMID:30067973 20210114 RGD protein:increased expression:CD4 T cell, nucleus 1310450 Atg9a autophagy related 9A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1353328 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1310450 Atg9a autophagy related 9A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1310450 Atg9a autophagy related 9A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1310450 Atg9a autophagy related 9A gene DOID:1148 polydactyly ISO RGD:1353328 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1310450 Atg9a autophagy related 9A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1310450 Atg9a autophagy related 9A gene DOID:630 genetic disease ISO RGD:1353328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310450 Atg9a autophagy related 9A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353328 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310451 Celf6 CUGBP, Elav-like family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1321359 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310451 Celf6 CUGBP, Elav-like family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1310451 Celf6 CUGBP, Elav-like family member 6 gene DOID:630 genetic disease ISO RGD:1321359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310451 Celf6 CUGBP, Elav-like family member 6 gene DOID:9256 colorectal cancer ISO RGD:1321359 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1605634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:3883 Lynch syndrome ISO RGD:1605634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1605634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:699 mitochondrial myopathy ISO RGD:1605634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:8927 learning disability ISO RGD:1605634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:9005532 Muscle Weakness ISO RGD:1605634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1605634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310453 Camkmt calmodulin-lysine N-methyltransferase gene DOID:9923 developmental coordination disorder ISO RGD:1605634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 1310455 Tox thymocyte selection-associated high mobility group box gene DOID:630 genetic disease ISO RGD:1605410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310456 Zfp513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:7240710 20130425 OMIM 1310456 Zfp513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 58 PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 1310456 Zfp513 zinc finger protein 513 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1321365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1310456 Zfp513 zinc finger protein 513 gene DOID:10584 retinitis pigmentosa ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 1310456 Zfp513 zinc finger protein 513 gene DOID:630 genetic disease ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310456 Zfp513 zinc finger protein 513 gene DOID:8501 fundus dystrophy ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:1826 epilepsy ISO RGD:1321367 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:3652 Leigh disease ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:630 genetic disease ISO RGD:1321367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:9004283 Transplant Rejection treatment IEP D RGD:35316072|PMID:31828147 20200708 RGD 1310457 Traf2 Tnf receptor-associated factor 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310458 Zc3h8 zinc finger CCCH type containing 8 gene DOID:630 genetic disease ISO RGD:1321369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321371 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:7240710 20130221 OMIM 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 15 PMID:14585957|PMID:18228599|PMID:20434433|PMID:24033266|PMID:24260153|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29850532|PMID:30311386|PMID:32684921|PMID:32747562|PMID:9506947 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1321371 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:630 genetic disease ISO RGD:1321371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321371 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:9004538 Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 1310459 Pou4f3 POU class 4 homeobox 3 gene DOID:9008681 Deafness ISO RGD:1321371 D RGD:1599168|PMID:9506947 20070118 RGD 1310460 Fbxw2 F-box and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1321373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310461 Cenpk centromere protein K gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1605966 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 1310461 Cenpk centromere protein K gene DOID:630 genetic disease ISO RGD:1605966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310461 Cenpk centromere protein K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605966 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0050817 Stargardt disease ISO RGD:1321376 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:32014858|PMID:34001834 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:7240710 20130425 OMIM 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26868535|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:9536098 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8547535|PMID:23701314 20140217 RGD 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:1242 globe disease ISO RGD:1321376 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:4448 macular degeneration ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:607 paraplegia ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321376 D RGD:1599415|PMID:15322982 20070201 RGD 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:8466 retinal degeneration ISO RGD:1321376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16269441 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:8501 fundus dystrophy ISO RGD:1321376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18048336 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:8501 fundus dystrophy ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:34001834|PMID:34448047|PMID:9536098 1310462 Rdh12 retinol dehydrogenase 12 gene DOID:9008296 Eye Abnormalities ISO RGD:1321376 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 1310463 Zfp68 zinc finger protein 68 gene DOID:630 genetic disease ISO RGD:1351858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310463 Zfp68 zinc finger protein 68 gene DOID:9256 colorectal cancer ISO RGD:1351858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 1310464 Cenpj centromere protein J gene DOID:0050453 lissencephaly ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:16900296|PMID:20301772|PMID:25741868 1310464 Cenpj centromere protein J gene DOID:0050569 Seckel syndrome ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:18414213|PMID:25741868|PMID:28492532 1310464 Cenpj centromere protein J gene DOID:0050569 Seckel syndrome ISS RGD:1553493 D RGD:13592920 20180518 MouseDO 1310464 Cenpj centromere protein J gene DOID:0070007 Seckel syndrome 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:18414213|PMID:20301772|PMID:20978018|PMID:25741868|PMID:28492532 1310464 Cenpj centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:11541118|PMID:20522431 20161010 RGD DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human) 1310464 Cenpj centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:7240710 20130221 OMIM 1310464 Cenpj centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:24033266|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532 1310464 Cenpj centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1553493 D RGD:11541114|PMID:23166506 20161010 RGD 1310464 Cenpj centromere protein J gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321379 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 1310464 Cenpj centromere protein J gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:20301772|PMID:22775483|PMID:25741868 1310464 Cenpj centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:7240710 20141015 OMIM 1310464 Cenpj centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:22775483|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:32549991 1310464 Cenpj centromere protein J gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1321379 D RGD:11541115|PMID:16900296 20161010 RGD DNA:deletion mutation:cds:c.3243-46delTCAG (human) 1310464 Cenpj centromere protein J gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1321379 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:18414213|PMID:24033266 1310464 Cenpj centromere protein J gene DOID:1059 intellectual disability ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991 1310464 Cenpj centromere protein J gene DOID:10907 microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 1310464 Cenpj centromere protein J gene DOID:630 genetic disease ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:11054 urinary bladder cancer ISO RGD:1321381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:2234 focal epilepsy ISO RGD:1321381 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:2671 transitional cell carcinoma ISO RGD:1321381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:630 genetic disease ISO RGD:1321381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:769 neuroblastoma ISO RGD:1321381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18577749 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:7788 adult spinal cord ependymoma ISO RGD:1321381 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Adult spinal cord ependymoma 1310465 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321381 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1310466 Oxsr1 oxidative stress responsive kinase 1 gene DOID:0050451 Brugada syndrome ISO RGD:1351310 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1310466 Oxsr1 oxidative stress responsive kinase 1 gene DOID:10763 hypertension ISO RGD:1351310 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22949526 1310466 Oxsr1 oxidative stress responsive kinase 1 gene DOID:630 genetic disease ISO RGD:1351310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310466 Oxsr1 oxidative stress responsive kinase 1 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1351310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 1310466 Oxsr1 oxidative stress responsive kinase 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1351310 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1310467 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310467 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321384 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310467 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310467 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:630 genetic disease ISO RGD:1321384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310467 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310467 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:9870 galactosemia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310468 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321386 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1310468 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1310468 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:0111546 Currarino syndrome ISO RGD:1321386 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1310468 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:10283 prostate cancer ISO RGD:1321386 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310468 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:630 genetic disease ISO RGD:1321386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310470 Shroom3 shroom family member 3 gene DOID:630 genetic disease ISO RGD:1602873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310470 Shroom3 shroom family member 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1310470 Shroom3 shroom family member 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310471 Lrp10 LDL receptor related protein 10 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1310471 Lrp10 LDL receptor related protein 10 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1321391 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 1310471 Lrp10 LDL receptor related protein 10 gene DOID:2661 myoepithelioma ISO RGD:1321391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1310471 Lrp10 LDL receptor related protein 10 gene DOID:630 genetic disease ISO RGD:1321391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310471 Lrp10 LDL receptor related protein 10 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1310471 Lrp10 LDL receptor related protein 10 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321391 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310472 Ptk7 protein tyrosine kinase 7 gene DOID:0050444 infantile Refsum disease ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310472 Ptk7 protein tyrosine kinase 7 gene DOID:630 genetic disease ISO RGD:1344975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310472 Ptk7 protein tyrosine kinase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344975 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1310472 Ptk7 protein tyrosine kinase 7 gene DOID:905 Zellweger syndrome ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310473 Chtf18 chromosome transmission fidelity factor 18 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1310473 Chtf18 chromosome transmission fidelity factor 18 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1310473 Chtf18 chromosome transmission fidelity factor 18 gene DOID:1826 epilepsy ISO RGD:1321395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310473 Chtf18 chromosome transmission fidelity factor 18 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321395 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310473 Chtf18 chromosome transmission fidelity factor 18 gene DOID:630 genetic disease ISO RGD:1321395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310474 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:32453716|PMID:32747439 1310474 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:13636 Fanconi anemia ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 1310474 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1321397 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310474 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321397 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310474 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:7240710 20210303 OMIM 1310474 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome 37 PMID:25741868|PMID:32453716|PMID:32747439 1310475 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:7240710 20130221 OMIM 1310475 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:16199547|PMID:17576681|PMID:20797690|PMID:21896830|PMID:21998747|PMID:22391140|PMID:22771891|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:26340091|PMID:26342005|PMID:27096395|PMID:27561601|PMID:27742850|PMID:28492532|PMID:28711958|PMID:30488096|PMID:30609409|PMID:31123811|PMID:31401635|PMID:31589614|PMID:33350326|PMID:33495102|PMID:33865885|PMID:9536098 1310475 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:13580 cholestasis ISO RGD:1321399 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1310475 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:2977 primary hyperoxaluria ISO RGD:1321399 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:28492532 1310475 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:2977 primary hyperoxaluria ISS RGD:1321400 D RGD:13592920 20180518 MouseDO OMIM:260000 | OMIM:613616 1310475 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:630 genetic disease ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310477 Armc8 armadillo repeat containing 8 gene DOID:630 genetic disease ISO RGD:1601876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310478 Afg2a AFG2 AAA ATPase homolog A gene DOID:1826 epilepsy ISO RGD:1321404 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1310478 Afg2a AFG2 AAA ATPase homolog A gene DOID:5419 schizophrenia ISO RGD:1321404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1310478 Afg2a AFG2 AAA ATPase homolog A gene DOID:630 genetic disease ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532 1310478 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:7240710 20151111 OMIM 1310478 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26299366|PMID:26467025|PMID:27683084|PMID:28293831|PMID:28492532|PMID:28513609|PMID:29343804|PMID:29389922|PMID:30552426|PMID:31912665|PMID:9536098 1310478 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321404 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310479 Wdr77 WD repeat domain 77 gene DOID:630 genetic disease ISO RGD:1604293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310479 Wdr77 WD repeat domain 77 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022581 1310481 Tmem128 transmembrane protein 128 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1602670 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1310481 Tmem128 transmembrane protein 128 gene DOID:630 genetic disease ISO RGD:1602670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310482 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:0112312 male infertility due to globozoospermia ISS RGD:1321410 D RGD:13592920 20220317 MouseDO 1310482 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1321409 D RGD:151708716|PMID:23374247 20220812 RGD mRNA:increased expression:lung (human) 1310482 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:630 genetic disease ISO RGD:1321409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310482 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 1310482 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1321410 D RGD:156430337|PMID:36044268 20230228 RGD 1310484 Fam13b family with sequence similarity 13, member B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321412 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310484 Fam13b family with sequence similarity 13, member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310484 Fam13b family with sequence similarity 13, member B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1310484 Fam13b family with sequence similarity 13, member B gene DOID:630 genetic disease ISO RGD:1321412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310484 Fam13b family with sequence similarity 13, member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321412 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310484 Fam13b family with sequence similarity 13, member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310485 Slc46a2 solute carrier family 46, member 2 gene DOID:630 genetic disease ISO RGD:1321413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310486 Rnf17 ring finger protein 17 gene DOID:0050569 Seckel syndrome ISO RGD:1321415 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1310486 Rnf17 ring finger protein 17 gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 1310486 Rnf17 ring finger protein 17 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321415 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 1310486 Rnf17 ring finger protein 17 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321415 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868 1310486 Rnf17 ring finger protein 17 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:15793586|PMID:18414213|PMID:20301772|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 1310486 Rnf17 ring finger protein 17 gene DOID:10907 microcephaly ISO RGD:1321415 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 1310486 Rnf17 ring finger protein 17 gene DOID:630 genetic disease ISO RGD:1321415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1310486 Rnf17 ring finger protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321415 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310487 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12236 primary biliary cholangitis ISS RGD:1321417 D RGD:13592920 20180518 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 1310487 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12894 Sjogren's syndrome ISS RGD:1321417 D RGD:13592920 20180518 MouseDO OMIM:270150 1310487 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:630 genetic disease ISO RGD:1321416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310488 Syvn1 synoviolin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1310488 Syvn1 synoviolin 1 gene DOID:1059 intellectual disability ISO RGD:1603603 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310488 Syvn1 synoviolin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310488 Syvn1 synoviolin 1 gene DOID:2746 glycogen storage disease V ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310488 Syvn1 synoviolin 1 gene DOID:3070 high grade glioma ISO RGD:1603603 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1310488 Syvn1 synoviolin 1 gene DOID:630 genetic disease ISO RGD:1603603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310489 Nxn nucleoredoxin gene DOID:630 genetic disease ISO RGD:1321419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310489 Nxn nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:7240710 20190904 OMIM 1310489 Nxn nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 PMID:25741868|PMID:28492532|PMID:29276006 1310489 Nxn nucleoredoxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 1310490 Parp14 poly (ADP-ribose) polymerase family, member 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1310490 Parp14 poly (ADP-ribose) polymerase family, member 14 gene DOID:630 genetic disease ISO RGD:1344897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310490 Parp14 poly (ADP-ribose) polymerase family, member 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344897 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1310490 Parp14 poly (ADP-ribose) polymerase family, member 14 gene DOID:9270 alkaptonuria ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1310492 Grid2ip Grid2 interacting protein gene DOID:10652 Alzheimer's disease ISO RGD:1351156 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 1310492 Grid2ip Grid2 interacting protein gene DOID:630 genetic disease ISO RGD:1351156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310494 Nit2 nitrilase family, member 2 gene DOID:630 genetic disease ISO RGD:1346727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310496 Sugp1 SURP and G patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1321429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310497 Six6 SIX homeobox 6 gene DOID:0060252 sclerocornea ISO RGD:1321431 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Sclerocornea 1310497 Six6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:7240710 20200311 OMIM 1310497 Six6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1321431 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1310497 Six6 SIX homeobox 6 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1321431 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:10629 microphthalmia ISO RGD:1321431 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:11830 myopia ISO RGD:1321431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 1310497 Six6 SIX homeobox 6 gene DOID:630 genetic disease ISO RGD:1321431 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:83 cataract ISO RGD:1321431 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Congenital cataract 1310497 Six6 SIX homeobox 6 gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1321431 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism 1310497 Six6 SIX homeobox 6 gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1321431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 1310497 Six6 SIX homeobox 6 gene DOID:9650 pathologic nystagmus ISO RGD:1321431 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Nystagmus 1310499 Gtf2h2 general transcription factor IIH subunit 2 gene DOID:13938 amenorrhea ISO RGD:2302830 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310499 Gtf2h2 general transcription factor IIH subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302830 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0050902 medulloblastoma ISO RGD:1321437 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0050934 ovarian clear cell carcinoma treatment ISO RGD:1321437 D RGD:126725086|PMID:21900401 20210405 RGD human cell in mouse model 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0060857 septooptic dysplasia ISO RGD:1321437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1321437 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:22426308|PMID:25741868 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:7240710 20140911 OMIM 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:18414213|PMID:22426308|PMID:23010866|PMID:23556151|PMID:23637025|PMID:23906836|PMID:23929686|PMID:24728327|PMID:25168959|PMID:25169878|PMID:25326635|PMID:25741868|PMID:28262751|PMID:28492532|PMID:30123105|PMID:35353340 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0080199 colorectal carcinoma onset ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:24925223|REF_RGD_ID:126790632 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 1310500 Arid1a AT-rich interaction domain 1A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:125097489|PMID:28031120 20210408 RGD protein:decreased expression:stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:126781705|PMID:29317648 20210415 RGD mRNA:decreased expression:stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:126790633|PMID:32387347 20210427 RGD protein:decreased expression:stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:126790641|PMID:30747208 20210428 RGD protein:decreased expression:stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:126781725|PMID:29689245 20210420 RGD protein:decreased expression:stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer susceptibility ISO RGD:1321437 D RGD:126848772|PMID:32377988 20210430 RGD DNA:missense mutation, nonsense mutation:exon 9: Pro912Thr (C>A), Gln920Ter (C >T) (Human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer treatment ISO RGD:1321437 D RGD:125097523|PMID:27323812 20210402 RGD human gene in mouse model 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1321437 D RGD:243065143|PMID:32529396 20230412 RGD associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:10907 microcephaly ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:11054 urinary bladder cancer ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1310500 Arid1a AT-rich interaction domain 1A gene DOID:13088 periventricular leukomalacia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1324 lung cancer ISO RGD:1321437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1380 endometrial cancer onset ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:endometrium (human) PMID:23887303|REF_RGD_ID:126779522 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1612 breast cancer treatment ISO RGD:1321437 D RGD:11072938|PMID:26069190 20210501 RGD human cells in mouse model 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1793 pancreatic cancer ISO RGD:1321437 D RGD:8694154|PMID:23355908 20140725 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1826 epilepsy ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1925 Coffin-Siris syndrome ISO RGD:1321437 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 1310500 Arid1a AT-rich interaction domain 1A gene DOID:1925 Coffin-Siris syndrome ISO RGD:1321437 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 1310500 Arid1a AT-rich interaction domain 1A gene DOID:2154 nephroblastoma ISO RGD:1321437 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1310500 Arid1a AT-rich interaction domain 1A gene DOID:219 colon cancer treatment ISO RGD:1321437 D RGD:11072938|PMID:26069190 20210501 RGD human cells in mouse model 1310500 Arid1a AT-rich interaction domain 1A gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:26980037|REF_RGD_ID:126790569 1310500 Arid1a AT-rich interaction domain 1A gene DOID:2671 transitional cell carcinoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1310500 Arid1a AT-rich interaction domain 1A gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:1321437 D RGD:126725086|PMID:21900401 20210405 RGD human cell in mouse model 1310500 Arid1a AT-rich interaction domain 1A gene DOID:299 adenocarcinoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1321437 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1321437 D RGD:126848753|PMID:25717252 20210428 RGD protein:decreased expression:stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1321437 D RGD:125097488|PMID:22808142 20210331 RGD mRNA, protein:decreased expression:mucosa of stomach (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1321437 D RGD:9068941 20210409 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:lung (human) PMID:32823232|REF_RGD_ID:126848760 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1321437 D RGD:126848781|PMID:24566899 20210503 RGD protein:decreased expression:lung (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1321437 D RGD:126848874|PMID:32791957 20210505 RGD DNA:mutations 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4907 small intestine carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:small intestine (human) PMID:25400081|REF_RGD_ID:126781719 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1321437 D RGD:127285649|PMID:31906887 20210624 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1321437 D RGD:126848756|PMID:33387086 20210428 RGD DNA:deletions 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:126775257|PMID:27433094 20210420 RGD mRNA,protein:decreased expression:intrahepatic bile duct (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:14974231|PMID:30849962 20190920 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1321437 D RGD:126781775|PMID:31665232 20210420 RGD protein:decreased expression:intrahepatic bile duct (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:4947 cholangiocarcinoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 1310500 Arid1a AT-rich interaction domain 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:stomach (human) PMID:24767857|REF_RGD_ID:125097484 1310500 Arid1a AT-rich interaction domain 1A gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1321437 D RGD:8554872 20201117 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary 1310500 Arid1a AT-rich interaction domain 1A gene DOID:630 genetic disease ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22009941|PMID:22037554|PMID:25741868|PMID:28401006|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561517|PMID:22634756|PMID:22922871 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:125097485|PMID:26589513 20210331 RGD mRNA, protein:increased expression:liver (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:125097495|PMID:25975202 20210401 RGD mRNA, protein:decreased expression:liver (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321437 D RGD:126790634|PMID:29136504 20210427 RGD human gene in mouse model 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:11344640|PMID:26569409 20210420 RGD associated with non-alcoholic steatohepatitis 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:126790634|PMID:29136504 20210427 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1321438 D RGD:125097519|PMID:29113912 20210402 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:687 hepatoblastoma ISO RGD:1321437 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:26822237 1310500 Arid1a AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 1310500 Arid1a AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:13439724|PMID:23202128 20171012 RGD DNA:mutations,loss of heterozygosity: : 1310500 Arid1a AT-rich interaction domain 1A gene DOID:7698 non-functioning pancreatic endocrine tumor exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:endocrine pancreas (human) PMID:32282764|REF_RGD_ID:126790640 1310500 Arid1a AT-rich interaction domain 1A gene DOID:8541 Sezary's disease ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 1310500 Arid1a AT-rich interaction domain 1A gene DOID:8584 Burkitt lymphoma ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9000027 Microsatellite Instability ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037554|PMID:22484628|PMID:24816253 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1321438 D RGD:125097495|PMID:25975202 20210401 RGD in lung; associated with hepatocellular carcinoma 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:1321438 D RGD:11344640|PMID:26569409 20210421 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321437 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321437 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9006741 Acute Hepatitis exacerbates ISO RGD:1321438 D RGD:11344640|PMID:26569409 20210420 RGD 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9008386 Hydrops Fetalis ISO RGD:1321437 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321437 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27941798 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9008939 Breast Neoplasms ISO RGD:1321437 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:31932695 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9256 colorectal cancer ISO RGD:1321437 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1321437 D RGD:126779574|PMID:25561809 20210408 RGD protein:decreased expression:colorectum (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9256 colorectal cancer exacerbates ISO RGD:1321437 D RGD:126777686|PMID:31263894 20210408 RGD protein:decreased expression:colorectum (human) 1310500 Arid1a AT-rich interaction domain 1A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1321437 D RGD:126781707|PMID:31213911 20210416 RGD protein:decreased expression:nasopharynx(human) 1310501 Ankrd10 ankyrin repeat domain 10 gene DOID:2222 factor X deficiency ISO RGD:1321439 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1310501 Ankrd10 ankyrin repeat domain 10 gene DOID:630 genetic disease ISO RGD:1321439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310501 Ankrd10 ankyrin repeat domain 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1321439 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321441 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:5844 myocardial infarction ISO RGD:1321441 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:630 genetic disease ISO RGD:1321441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321441 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1321441 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 1310502 Phlda3 pleckstrin homology-like domain, family A, member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321441 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1605009 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605009 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605009 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310503 Pih1d2 PIH1 domain containing 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605009 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1310504 Elk4 ETS transcription factor ELK4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310504 Elk4 ETS transcription factor ELK4 gene DOID:12849 autistic disorder ISO RGD:1321444 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310504 Elk4 ETS transcription factor ELK4 gene DOID:1540 parathyroid carcinoma ISO RGD:1321444 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310504 Elk4 ETS transcription factor ELK4 gene DOID:630 genetic disease ISO RGD:1321444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310504 Elk4 ETS transcription factor ELK4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310504 Elk4 ETS transcription factor ELK4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321444 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310505 Osbp2 oxysterol binding protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1321446 D RGD:41404644|PMID:21763455 20210129 RGD mRNA:increased expression:blood 1310505 Osbp2 oxysterol binding protein 2 gene DOID:630 genetic disease ISO RGD:1321446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310506 Slitrk3 SLIT and NTRK-like family, member 3 gene DOID:1059 intellectual disability ISO RGD:1321448 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310506 Slitrk3 SLIT and NTRK-like family, member 3 gene DOID:630 genetic disease ISO RGD:1321448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310508 Adss adenylosuccinate synthase gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1321450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1310508 Adss adenylosuccinate synthase gene DOID:1115 sarcoma IEP D RGD:5143928|PMID:2560335 20110727 RGD protein:increased activity:tumor (rat) 1310508 Adss adenylosuccinate synthase gene DOID:1540 parathyroid carcinoma ISO RGD:1321450 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310508 Adss adenylosuccinate synthase gene DOID:630 genetic disease ISO RGD:1321450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310508 Adss adenylosuccinate synthase gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 1310508 Adss adenylosuccinate synthase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321450 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310509 Ccp110 centriolar coiled-coil protein 110 gene DOID:630 genetic disease ISO RGD:1605415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310510 Cfhr1 complement factor H-related 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1346225 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1310510 Cfhr1 complement factor H-related 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346225 D RGD:11041162|PMID:23243267 20160323 RGD DNA:deletion 1310510 Cfhr1 complement factor H-related 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346225 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310510 Cfhr1 complement factor H-related 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346225 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:16998489|PMID:17367211|PMID:18006700|PMID:20843825|PMID:25741868|PMID:26284228 1310510 Cfhr1 complement factor H-related 1 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1346225 D RGD:7240710 20230510 OMIM 1310510 Cfhr1 complement factor H-related 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1346225 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310510 Cfhr1 complement factor H-related 1 gene DOID:0110014 age related macular degeneration 1 susceptibility ISO RGD:1346225 D RGD:7240710 20230510 OMIM 1310510 Cfhr1 complement factor H-related 1 gene DOID:10871 age related macular degeneration ISO RGD:1346225 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration PMID:16998489|PMID:17367211|PMID:18006700|PMID:20843825 1310510 Cfhr1 complement factor H-related 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346225 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310510 Cfhr1 complement factor H-related 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399633 1310510 Cfhr1 complement factor H-related 1 gene DOID:557 kidney disease ISO RGD:1346225 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868 1310510 Cfhr1 complement factor H-related 1 gene DOID:630 genetic disease ISO RGD:1346225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310510 Cfhr1 complement factor H-related 1 gene DOID:784 chronic kidney disease ISO RGD:1346225 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 1310510 Cfhr1 complement factor H-related 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1346225 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1310510 Cfhr1 complement factor H-related 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346225 D RGD:11341662|PMID:26317246 20160630 RGD DNA:deletion: : 1310510 Cfhr1 complement factor H-related 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346225 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310510 Cfhr1 complement factor H-related 1 gene DOID:9538 multiple myeloma treatment ISO RGD:1346225 D RGD:11040544|PMID:22348216 20160630 RGD 1310511 Mybphl myosin binding protein H-like gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1310511 Mybphl myosin binding protein H-like gene DOID:12849 autistic disorder ISO RGD:1606910 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310511 Mybphl myosin binding protein H-like gene DOID:2843 long QT syndrome ISO RGD:1606910 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1310511 Mybphl myosin binding protein H-like gene DOID:630 genetic disease ISO RGD:1606910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310511 Mybphl myosin binding protein H-like gene DOID:9008386 Hydrops Fetalis ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16582910|PMID:16909392|PMID:18261905|PMID:19012992|PMID:20074988|PMID:25741868|PMID:26467025|PMID:27536553|PMID:28209105|PMID:28492532|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:32703289 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISS RGD:1619253 D RGD:13592920 20180518 MouseDO OMIM:251880 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:7240710 20130221 OMIM 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31319225|PMID:31673878|PMID:32703289|PMID:33258288 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0110033 autosomal recessive Alport syndrome ISS RGD:1619253 D RGD:13592920 20180518 MouseDO OMIM:203780 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:7240710 20190515 OMIM 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:20074988|PMID:22508010|PMID:23714749|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26741492|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:10123 pigmentation disease ISO RGD:1353525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1184 nephrotic syndrome ISS RGD:1619253 D RGD:13592920 20180518 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:5463 cochlear disease ISO RGD:1353525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:576 proteinuria ISO RGD:1353525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:630 genetic disease ISO RGD:1353525 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 1310512 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1353525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:16582910|PMID:16909392|PMID:17694548|PMID:19520594|PMID:23714749|PMID:23829229|PMID:25016221|PMID:25741868|PMID:26437932|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878 1310513 Usp49 ubiquitin specific peptidase 49 gene DOID:0050444 infantile Refsum disease ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310513 Usp49 ubiquitin specific peptidase 49 gene DOID:630 genetic disease ISO RGD:1601875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310513 Usp49 ubiquitin specific peptidase 49 gene DOID:905 Zellweger syndrome ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310514 Nubp1 NUBP iron-sulfur cluster assembly factor 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1310514 Nubp1 NUBP iron-sulfur cluster assembly factor 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1310514 Nubp1 NUBP iron-sulfur cluster assembly factor 1 gene DOID:5812 MHC class II deficiency ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 1310514 Nubp1 NUBP iron-sulfur cluster assembly factor 1 gene DOID:630 genetic disease ISO RGD:1321458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1321463 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:7240710 20190315 OMIM 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:10835638|PMID:11810641|PMID:12522553|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:22859937|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30157302 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1321463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:10754 otitis media ISS RGD:1321464 D RGD:13592920 20180518 MouseDO OMIM:166760 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1321463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1321463 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:4621 holoprosencephaly ISO RGD:1321463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16705179 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:4621 holoprosencephaly ISO RGD:1321463 D RGD:1599407|PMID:10835638 20070201 RGD holoprosencephaly-4, OMIM:142946 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:4621 holoprosencephaly ISO RGD:1321463 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:630 genetic disease ISO RGD:1321463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:767 muscular atrophy IEP D RGD:1641826|PMID:14718385 20100319 RGD associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321463 D RGD:11554173 20180828 CTD CTD Direct Evidence: therapeutic PMID:29746904 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1599409|PMID:15153551 20070201 RGD protein:decreased expression:glomerulus (rat) 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25791921 1310517 Tgif1 TGFB-induced factor homeobox 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 1310518 Ptgr2 prostaglandin reductase 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1321465 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1310518 Ptgr2 prostaglandin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1321465 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310518 Ptgr2 prostaglandin reductase 2 gene DOID:630 genetic disease ISO RGD:1321465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0080422 Dravet syndrome ISO RGD:1606238 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0080600 COVID-19 ISO RGD:1606238 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606238 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:630 genetic disease ISO RGD:1606238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310519 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606238 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310520 Gpat4 glycerol-3-phosphate acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1606717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310521 Ranbp1 RAN binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321469 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1310521 Ranbp1 RAN binding protein 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1310521 Ranbp1 RAN binding protein 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1310521 Ranbp1 RAN binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1321469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310521 Ranbp1 RAN binding protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1310521 Ranbp1 RAN binding protein 1 gene DOID:11372 megacolon ISO RGD:1321469 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310521 Ranbp1 RAN binding protein 1 gene DOID:11446 sciatic neuropathy IEP D RGD:9835000|PMID:18667152 20150311 RGD protein:increased expression:sciatic nerve (rat) 1310521 Ranbp1 RAN binding protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1310521 Ranbp1 RAN binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1321469 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310521 Ranbp1 RAN binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321469 D RGD:9835001|PMID:25341891 20150311 RGD protein:decreased expression:heart ventricle, cytoplasm (human) 1310521 Ranbp1 RAN binding protein 1 gene DOID:1826 epilepsy ISO RGD:1321469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310521 Ranbp1 RAN binding protein 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321469 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1310521 Ranbp1 RAN binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1310521 Ranbp1 RAN binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1321469 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310521 Ranbp1 RAN binding protein 1 gene DOID:5844 myocardial infarction IEP D RGD:9835001|PMID:25341891 20150311 RGD protein:decreased expression:heart ventricle, cytoplasm (rat) 1310521 Ranbp1 RAN binding protein 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1321469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1310521 Ranbp1 RAN binding protein 1 gene DOID:630 genetic disease ISO RGD:1321469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310521 Ranbp1 RAN binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1321469 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 1310521 Ranbp1 RAN binding protein 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1321469 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1310521 Ranbp1 RAN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321469 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310521 Ranbp1 RAN binding protein 1 gene DOID:9007661 Dwarfism ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1310523 Ifi44 interferon-induced protein 44 gene DOID:0080600 COVID-19 ISO RGD:1321473 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310523 Ifi44 interferon-induced protein 44 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1321473 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1310523 Ifi44 interferon-induced protein 44 gene DOID:630 genetic disease ISO RGD:1321473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310523 Ifi44 interferon-induced protein 44 gene DOID:9001488 Human Influenza ISO RGD:1321473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1310523 Ifi44 interferon-induced protein 44 gene DOID:9003281 Spontaneous Abortions ISO RGD:1321473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1310524 Parp4 poly (ADP-ribose) polymerase family, member 4 gene DOID:630 genetic disease ISO RGD:1606845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310524 Parp4 poly (ADP-ribose) polymerase family, member 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16204055 1310524 Parp4 poly (ADP-ribose) polymerase family, member 4 gene DOID:9002928 Colonic Neoplasms exacerbates ISO RGD:1553510 D RGD:152977751|PMID:16204055 20220602 RGD 1310525 Copa COPI coat complex subunit alpha gene DOID:0060178 familial hemiplegic migraine ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 1310525 Copa COPI coat complex subunit alpha gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 1310525 Copa COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:7240710 20160413 OMIM 1310525 Copa COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:17576681|PMID:25741868|PMID:25894502|PMID:27577878|PMID:28492532|PMID:29137621|PMID:31905480|PMID:32040879|PMID:32778887|PMID:9536098 1310525 Copa COPI coat complex subunit alpha gene DOID:11162 respiratory failure ISO RGD:1321477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute respiratory failure PMID:25741868|PMID:25894502|PMID:28191890|PMID:30804679|PMID:32778887 1310525 Copa COPI coat complex subunit alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1321477 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310525 Copa COPI coat complex subunit alpha gene DOID:3082 interstitial lung disease ISO RGD:1321477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 1310525 Copa COPI coat complex subunit alpha gene DOID:417 autoimmune disease ISO RGD:1321477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 1310525 Copa COPI coat complex subunit alpha gene DOID:630 genetic disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310525 Copa COPI coat complex subunit alpha gene DOID:848 arthritis ISO RGD:1321477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 1310525 Copa COPI coat complex subunit alpha gene DOID:850 lung disease ISO RGD:1321477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 1310525 Copa COPI coat complex subunit alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321477 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310526 Ndn necdin, MAGE family member gene DOID:0060041 autism spectrum disorder ISO RGD:1321479 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 1310526 Ndn necdin, MAGE family member gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 1310526 Ndn necdin, MAGE family member gene DOID:11983 Prader-Willi syndrome ISO RGD:1321479 D RGD:1601480|PMID:9630521 20070423 RGD 1310526 Ndn necdin, MAGE family member gene DOID:11983 Prader-Willi syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28631899 1310526 Ndn necdin, MAGE family member gene DOID:11983 Prader-Willi syndrome ISS RGD:1321480 D RGD:13592920 20220811 MouseDO OMIM:176270 1310526 Ndn necdin, MAGE family member gene DOID:12849 autistic disorder ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 1310526 Ndn necdin, MAGE family member gene DOID:1932 Angelman syndrome ISO RGD:1321479 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 1310526 Ndn necdin, MAGE family member gene DOID:305 carcinoma ISO RGD:1321479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 1310526 Ndn necdin, MAGE family member gene DOID:5419 schizophrenia ISO RGD:1321479 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310526 Ndn necdin, MAGE family member gene DOID:630 genetic disease ISO RGD:1321479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310526 Ndn necdin, MAGE family member gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1321479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 1310526 Ndn necdin, MAGE family member gene DOID:9003996 Birth Weight ISO RGD:1321479 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 1310526 Ndn necdin, MAGE family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321479 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310528 Rhoj ras homolog family member J gene DOID:0050700 cardiomyopathy ISO RGD:1321483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 1310528 Rhoj ras homolog family member J gene DOID:630 genetic disease ISO RGD:1321483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310528 Rhoj ras homolog family member J gene DOID:9002928 Colonic Neoplasms ISO RGD:1321483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:0080690 RASopathy ISO RGD:1321485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:7240710 20140911 OMIM 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32964447|PMID:32979048|PMID:33594065|PMID:9536098 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:29193663|PMID:32979048 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:28832565|PMID:29193663|PMID:32979048|PMID:33594065 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:607 paraplegia ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25693842|PMID:25741868|PMID:26539891|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:33594065|PMID:9536098 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:9536098 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321485 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:28492532 1310529 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532|PMID:29193663|PMID:32979048 1310530 Azi2 5-azacytidine induced 2 gene DOID:630 genetic disease ISO RGD:1605352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310531 Pank3 pantothenate kinase 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:1321488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 1310531 Pank3 pantothenate kinase 3 gene DOID:630 genetic disease ISO RGD:1321488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310532 Cpm carboxypeptidase M gene DOID:10325 silicosis ISO RGD:1321490 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 1310532 Cpm carboxypeptidase M gene DOID:289 endometriosis ISO RGD:1321490 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1310532 Cpm carboxypeptidase M gene DOID:630 genetic disease ISO RGD:1321490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310533 Crbn cereblon gene DOID:0060308 autosomal recessive intellectual developmental disorder ISS RGD:1321492 D RGD:13592920 20180518 MouseDO OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 1310533 Crbn cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:7240710 20130221 OMIM 1310533 Crbn cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A PMID:10932263|PMID:15557513|PMID:18414213|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:25741868|PMID:26633545|PMID:28143899|PMID:28492532 1310533 Crbn cereblon gene DOID:1059 intellectual disability ISO RGD:1321492 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1310533 Crbn cereblon gene DOID:630 genetic disease ISO RGD:1321492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310533 Crbn cereblon gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321492 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310533 Crbn cereblon gene DOID:9006534 Nervous System Malformations ISO RGD:1321492 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 1310533 Crbn cereblon gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1321492 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 1310533 Crbn cereblon gene DOID:9538 multiple myeloma ISO RGD:1321492 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26186254 1310533 Crbn cereblon gene DOID:9538 multiple myeloma ISO RGD:1321492 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1310535 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:5419 schizophrenia ISO RGD:1321494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310535 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:630 genetic disease ISO RGD:1321494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310535 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1310535 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:7240710 20130221 OMIM 1310535 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 1310536 Zfp787 zinc finger protein 787 gene DOID:13501 Moebius syndrome ISO RGD:1603274 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1310536 Zfp787 zinc finger protein 787 gene DOID:630 genetic disease ISO RGD:1603274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310537 Ipo9 importin 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310537 Ipo9 importin 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321497 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310537 Ipo9 importin 9 gene DOID:630 genetic disease ISO RGD:1321497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310537 Ipo9 importin 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310537 Ipo9 importin 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321497 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310538 Lman1l lectin, mannose-binding, 1 like gene DOID:10283 prostate cancer ISO RGD:1321499 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310538 Lman1l lectin, mannose-binding, 1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1310538 Lman1l lectin, mannose-binding, 1 like gene DOID:2717 Bloom syndrome ISO RGD:1321499 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310538 Lman1l lectin, mannose-binding, 1 like gene DOID:5419 schizophrenia ISO RGD:1321499 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310538 Lman1l lectin, mannose-binding, 1 like gene DOID:630 genetic disease ISO RGD:1321499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310538 Lman1l lectin, mannose-binding, 1 like gene DOID:9256 colorectal cancer ISO RGD:1321499 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1310539 Hoxc12 homeo box C12 gene DOID:630 genetic disease ISO RGD:1321500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310539 Hoxc12 homeo box C12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321500 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310540 Tmem115 transmembrane protein 115 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 1310540 Tmem115 transmembrane protein 115 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 1310540 Tmem115 transmembrane protein 115 gene DOID:630 genetic disease ISO RGD:1605401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310540 Tmem115 transmembrane protein 115 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310541 Mrpl32 mitochondrial ribosomal protein L32 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321503 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310541 Mrpl32 mitochondrial ribosomal protein L32 gene DOID:630 genetic disease ISO RGD:1321503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1606172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19944400|PMID:19944405 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1606172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606172 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:7240710 20190315 OMIM 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:16199547|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606172 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:630 genetic disease ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:758 situs inversus ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 1310542 Dnaaf1 dynein, axonemal, assembly factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24307375|PMID:24498942|PMID:25158045|PMID:25741868|PMID:26633542|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:9536098 1310543 Ppox protoporphyrinogen oxidase gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1310543 Ppox protoporphyrinogen oxidase gene DOID:1540 parathyroid carcinoma ISO RGD:1321506 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310543 Ppox protoporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1321507 D RGD:4145363|PMID:11929050 20101102 RGD DNA:missense mutation:exon:p.R59W (mouse) 1310543 Ppox protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:7240710 20180207 OMIM 1310543 Ppox protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: Variegate porphyria, homozygous PMID:10401000|PMID:10486317|PMID:10870850|PMID:11173967|PMID:11286631|PMID:11298551|PMID:11348478|PMID:11929051|PMID:12380696|PMID:12655566|PMID:12922165|PMID:15327556|PMID:16433813|PMID:17576681|PMID:18570668|PMID:1946837|PMID:19656457|PMID:19845869|PMID:21048046|PMID:21910705|PMID:23409300|PMID:24033266|PMID:25445397|PMID:25741868|PMID:27982422|PMID:28492532|PMID:28653968|PMID:29130490|PMID:33159949|PMID:3319294|PMID:8290408|PMID:8673113|PMID:8817334|PMID:8852667|PMID:9536098|PMID:9540991|PMID:9738863|PMID:9811936|PMID:9829909 1310543 Ppox protoporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1321506 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10486317|PMID:11474578|PMID:11929051|PMID:12859407|PMID:21048046|PMID:24073655|PMID:28492532|PMID:9763307 1310543 Ppox protoporphyrinogen oxidase gene DOID:6364 migraine ISO RGD:1321506 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 1310543 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:1599172|PMID:8852667 20070118 RGD DNA:missense mutation:cds:p.G232R (human) 1310543 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:1599174|PMID:9254745 20070118 RGD DNA:transition:cds:p.R59W (human) 1310543 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:1599176|PMID:10486317 20070118 RGD DNA:mutations:cds:multiple (human) 1310543 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321507 D RGD:4145281|PMID:9431441 20101028 RGD protein:decreased activity:liver, kidney (mouse) 1310543 Ppox protoporphyrinogen oxidase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321506 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1310543 Ppox protoporphyrinogen oxidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321506 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310544 Plekhf1 pleckstrin homology and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1321508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310544 Plekhf1 pleckstrin homology and FYVE domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 1310545 Slc29a4 solute carrier family 29 member 4 gene DOID:11372 megacolon ISO RGD:1321510 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310545 Slc29a4 solute carrier family 29 member 4 gene DOID:630 genetic disease ISO RGD:1321510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310546 Rtp3 receptor (chemosensory) transporter protein 3 gene DOID:630 genetic disease ISO RGD:1353966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310546 Rtp3 receptor (chemosensory) transporter protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 1310546 Rtp3 receptor (chemosensory) transporter protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310546 Rtp3 receptor (chemosensory) transporter protein 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1310546 Rtp3 receptor (chemosensory) transporter protein 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1353966 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 1310547 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1321512 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1310547 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1321512 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1310547 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1321512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 1310547 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:630 genetic disease ISO RGD:1321512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310547 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1321512 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050711 aceruloplasminemia ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:18414213|PMID:24033266|PMID:28492532 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:11590544|PMID:28492532|PMID:31898847|PMID:32581362 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:11041885|PMID:11590544 20160401 RGD DNA:splice-site mutation:intron:1303+1G>A (human) 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:7240710 20140911 OMIM 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11455388|PMID:11590544|PMID:16199547|PMID:17576681|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31141302|PMID:31898847|PMID:9536098 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:10283 prostate cancer ISO RGD:1321513 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321513 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2223 platelet storage pool deficiency ISS RGD:1321514 D RGD:13592920 20180518 MouseDO OMIM:185050 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321513 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321513 D RGD:1599538|PMID:11455388 20070207 RGD DNA:deletion: 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:35886065 1310548 Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:630 genetic disease ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321515 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:7240710 20130221 OMIM 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:16199547|PMID:19494034|PMID:19651599|PMID:21185756|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:34298581|PMID:8074143 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:7240710 20190315 OMIM 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type PMID:2309787|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:630 genetic disease ISO RGD:1321515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 1310549 Cog4 component of oligomeric golgi complex 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1321515 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Global developmental delay 1310551 Tulp2 TUB like protein 2 gene DOID:630 genetic disease ISO RGD:1321519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310552 Atosa atos homolog A gene DOID:2717 Bloom syndrome ISO RGD:1606264 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310552 Atosa atos homolog A gene DOID:607 paraplegia ISO RGD:1606264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1310552 Atosa atos homolog A gene DOID:630 genetic disease ISO RGD:1606264 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310552 Atosa atos homolog A gene DOID:9256 colorectal cancer ISO RGD:1606264 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:0050700 cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:12642 hiatus hernia ISO RGD:1604297 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:630 genetic disease ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310553 RGD1310553 similar to expressed sequence AI597479 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 1310554 Sema4d semaphorin 4D gene DOID:630 genetic disease ISO RGD:1321523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:7240710 20150325 OMIM 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 18 PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:18412284|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25741868|PMID:28492532|PMID:28559085|PMID:33576794 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1321525 D RGD:1599535|PMID:11773002 20070207 RGD 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1321525 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:28492532|PMID:28559085 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:630 genetic disease ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:27886254|PMID:28492532|PMID:28559085 1310555 Prpf3 pre-mRNA processing factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321525 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310556 Ing3 inhibitor of growth family, member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321527 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310556 Ing3 inhibitor of growth family, member 3 gene DOID:630 genetic disease ISO RGD:1321527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310556 Ing3 inhibitor of growth family, member 3 gene DOID:684 hepatocellular carcinoma treatment IDA D RGD:9587823|PMID:25156538 20141021 RGD 1310558 Nfrkb nuclear factor related to kappa B binding protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1321531 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1310558 Nfrkb nuclear factor related to kappa B binding protein gene DOID:5419 schizophrenia ISO RGD:1321531 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310558 Nfrkb nuclear factor related to kappa B binding protein gene DOID:630 genetic disease ISO RGD:1321531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310558 Nfrkb nuclear factor related to kappa B binding protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321531 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310558 Nfrkb nuclear factor related to kappa B binding protein gene DOID:9007661 Dwarfism ISO RGD:1321531 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310560 Elovl7 ELOVL fatty acid elongase 7 gene DOID:630 genetic disease ISO RGD:1321534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310560 Elovl7 ELOVL fatty acid elongase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321534 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310561 Pdcd5 programmed cell death 5 gene DOID:630 genetic disease ISO RGD:1321536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310562 Neil3 nei-like DNA glycosylase 3 gene DOID:630 genetic disease ISO RGD:1352319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310562 Neil3 nei-like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1352319 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310562 Neil3 nei-like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352319 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 1310562 Neil3 nei-like DNA glycosylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352319 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310563 Ccl9 C-C motif chemokine ligand 9 gene DOID:0060496 respiratory allergy ISO RGD:1553178 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 1310563 Ccl9 C-C motif chemokine ligand 9 gene DOID:182 calcinosis ISO RGD:1553178 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1310563 Ccl9 C-C motif chemokine ligand 9 gene DOID:4079 heart valve disease ISO RGD:1553178 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 1310563 Ccl9 C-C motif chemokine ligand 9 gene DOID:630 genetic disease ISO RGD:1321539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310563 Ccl9 C-C motif chemokine ligand 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553178 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310564 Plxnb1 plexin B1 gene DOID:630 genetic disease ISO RGD:1321541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310564 Plxnb1 plexin B1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1321541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1310564 Plxnb1 plexin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321541 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:0050632 oculocutaneous albinism ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:0050633 ocular albinism ISS RGD:1553523 D RGD:13592920 20180518 MouseDO OMIM:300500 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:7240710 20141022 OMIM 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:14323 Marfan syndrome ISO RGD:1321543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:2717 Bloom syndrome ISO RGD:1321543 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:630 genetic disease ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1321543 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1321543 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:16357253|PMID:17999355|PMID:23010199|PMID:25741868|PMID:29025994 1310565 Slc24a5 solute carrier family 24 member 5 gene DOID:9256 colorectal cancer ISO RGD:1321543 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310566 Tmem17 transmembrane protein 17 gene DOID:0050777 Joubert syndrome ISO RGD:1321545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1310566 Tmem17 transmembrane protein 17 gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1321545 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:25741868|PMID:26982032 1310566 Tmem17 transmembrane protein 17 gene DOID:5419 schizophrenia ISO RGD:1321545 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310566 Tmem17 transmembrane protein 17 gene DOID:630 genetic disease ISO RGD:1321545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310566 Tmem17 transmembrane protein 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321545 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321547 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1321547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:1059 intellectual disability ISO RGD:1321547 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1321547 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:11372 megacolon ISO RGD:1321547 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:12849 autistic disorder ISO RGD:1321547 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:1826 epilepsy ISO RGD:1321547 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:5419 schizophrenia ISO RGD:1321547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:5419 schizophrenia ISO RGD:1321547 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1321547 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:630 genetic disease ISO RGD:1321547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321547 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:9007661 Dwarfism ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1310567 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1321547 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1310568 Parp2 poly (ADP-ribose) polymerase 2 gene DOID:630 genetic disease ISO RGD:1602134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310568 Parp2 poly (ADP-ribose) polymerase 2 gene DOID:811 lipodystrophy ISO RGD:1602134 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21417348 1310568 Parp2 poly (ADP-ribose) polymerase 2 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:13514043|PMID:25281201 20180321 RGD 1310569 Myot myotilin gene DOID:0050700 cardiomyopathy ISO RGD:1321551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 1310569 Myot myotilin gene DOID:0050700 cardiomyopathy ISO RGD:1321551 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 1310569 Myot myotilin gene DOID:0060224 atrial fibrillation ISO RGD:1321551 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1310569 Myot myotilin gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310569 Myot myotilin gene DOID:0080091 spheroid body myopathy ISO RGD:1321551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYOPATHY, SPHEROID BODY | ClinVar Annotator: match by term: Spheroid body myopathy PMID:12428213|PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25208129|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:9027924 1310569 Myot myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 1310569 Myot myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:7240710 20150701 OMIM 1310569 Myot myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction PMID:10958653|PMID:12428213|PMID:15111675|PMID:15947064|PMID:1598902|PMID:16199547|PMID:16380616|PMID:16684602|PMID:16793270|PMID:16801328|PMID:17221859|PMID:17576681|PMID:17784878|PMID:17931355|PMID:18335471|PMID:18414213|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:20301672|PMID:20981092|PMID:21336781|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22106715|PMID:22349301|PMID:22995991|PMID:24033266|PMID:24781192|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:27884173|PMID:28403181|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:32528171|PMID:3275904|PMID:571956|PMID:9027924|PMID:9536098 1310569 Myot myotilin gene DOID:0080307 myofibrillar myopathy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:19225410|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25741868|PMID:26467025|PMID:26842778|PMID:27618136|PMID:28492532|PMID:32041727 1310569 Myot myotilin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310569 Myot myotilin gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1310569 Myot myotilin gene DOID:10283 prostate cancer ISO RGD:1321551 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310569 Myot myotilin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1321551 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:21336781 1310569 Myot myotilin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 1310569 Myot myotilin gene DOID:574 peripheral nervous system disease ISO RGD:1321551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 1310569 Myot myotilin gene DOID:6000 congestive heart failure ISO RGD:1321551 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Heart failure PMID:19240791|PMID:25741868|PMID:26257771|PMID:26467025|PMID:28492532|PMID:31404076 1310569 Myot myotilin gene DOID:630 genetic disease ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310569 Myot myotilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321551 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310569 Myot myotilin gene DOID:9005532 Muscle Weakness ISO RGD:1321551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 1310569 Myot myotilin gene DOID:9005532 Muscle Weakness ISO RGD:1321551 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Muscle weakness 1310569 Myot myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1310569 Myot myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310569 Myot myotilin gene DOID:9884 muscular dystrophy ISO RGD:1321551 D RGD:1599673|PMID:10958653 20070212 RGD Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 1310570 Klhl18 kelch-like family member 18 gene DOID:630 genetic disease ISO RGD:1351976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310570 Klhl18 kelch-like family member 18 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1310570 Klhl18 kelch-like family member 18 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 1310571 Tpgs2 tubulin polyglutamylase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1321554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310571 Tpgs2 tubulin polyglutamylase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310573 Rnf222 ring finger protein 222 gene DOID:630 genetic disease ISO RGD:2299989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:0050891 adrenal cortical adenoma ISO RGD:1321558 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:2316 brain ischemia IEP D RGD:7327190|PMID:12150772 20130916 RGD protein:decreased expression:hippocampus, cerebral cortex, cytosol, nucleus 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:4947 cholangiocarcinoma ISO RGD:1321558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1321558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:7327191|PMID:7769990 20130916 RGD 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16949795 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:7240710 20210113 OMIM 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 PMID:25741868|PMID:33058759 1310574 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9005158 Cushing Syndrome ISO RGD:1321558 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 1310575 Ch25h cholesterol 25-hydroxylase gene DOID:630 genetic disease ISO RGD:1321560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310575 Ch25h cholesterol 25-hydroxylase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1321560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1310575 Ch25h cholesterol 25-hydroxylase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1321560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 1310576 Mex3d mex-3 RNA binding family member D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1310576 Mex3d mex-3 RNA binding family member D gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1310576 Mex3d mex-3 RNA binding family member D gene DOID:5339 cyclic hematopoiesis ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1310576 Mex3d mex-3 RNA binding family member D gene DOID:630 genetic disease ISO RGD:1321562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310576 Mex3d mex-3 RNA binding family member D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321562 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310578 Cdr2 cerebellar degeneration-related protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1321565 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 1310578 Cdr2 cerebellar degeneration-related protein 2 gene DOID:12849 autistic disorder ISO RGD:1321565 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310578 Cdr2 cerebellar degeneration-related protein 2 gene DOID:5419 schizophrenia ISO RGD:1321565 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310578 Cdr2 cerebellar degeneration-related protein 2 gene DOID:630 genetic disease ISO RGD:1321565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310579 Gbp4 guanylate binding protein 4 gene DOID:630 genetic disease ISO RGD:1321567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310579 Gbp4 guanylate binding protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321567 D RGD:11554173 20200505 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310580 B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0060476 Perlman syndrome ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1310580 B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1310580 B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1321569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310582 Tekt3 tektin 3 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321573 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 1310582 Tekt3 tektin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1321573 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 1310582 Tekt3 tektin 3 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321573 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 1310582 Tekt3 tektin 3 gene DOID:12849 autistic disorder ISO RGD:1321573 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310582 Tekt3 tektin 3 gene DOID:5419 schizophrenia ISO RGD:1321573 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310582 Tekt3 tektin 3 gene DOID:630 genetic disease ISO RGD:1321573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310582 Tekt3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:7240710 20230505 OMIM 1310582 Tekt3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 81 PMID:36708031 1310583 Nudt14 nudix hydrolase 14 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1310583 Nudt14 nudix hydrolase 14 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1310583 Nudt14 nudix hydrolase 14 gene DOID:630 genetic disease ISO RGD:1321575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310584 Zfp46 zinc finger protein 46 gene DOID:630 genetic disease ISO RGD:1321577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310584 Zfp46 zinc finger protein 46 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1321577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1310585 Elf2 E74 like ETS transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310585 Elf2 E74 like ETS transcription factor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1310585 Elf2 E74 like ETS transcription factor 2 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1321579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:29628936 1310586 Bola1 bolA family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606296 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310586 Bola1 bolA family member 1 gene DOID:630 genetic disease ISO RGD:1606296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310586 Bola1 bolA family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606296 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:0050439 Usher syndrome ISO RGD:1605938 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605938 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:0080600 COVID-19 ISO RGD:1605938 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:1540 parathyroid carcinoma ISO RGD:1605938 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:630 genetic disease ISO RGD:1605938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:9006949 Martsolf Syndrome ISO RGD:1605938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 1310587 RGD1310587 similar to hypothetical protein FLJ14146 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605938 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310588 Sh3bp2 SH3-domain binding protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321583 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1310588 Sh3bp2 SH3-domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:1599339|PMID:11381256 20070130 RGD 1310588 Sh3bp2 SH3-domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:7240710 20130221 OMIM 1310588 Sh3bp2 SH3-domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:30236129|PMID:34573280|PMID:9536098 1310588 Sh3bp2 SH3-domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310589 Bop1 BOP1 ribosomal biogenesis factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1310589 Bop1 BOP1 ribosomal biogenesis factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1310589 Bop1 BOP1 ribosomal biogenesis factor gene DOID:4621 holoprosencephaly ISO RGD:1321585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1310589 Bop1 BOP1 ribosomal biogenesis factor gene DOID:630 genetic disease ISO RGD:1321585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310589 Bop1 BOP1 ribosomal biogenesis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1321585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310589 Bop1 BOP1 ribosomal biogenesis factor gene DOID:9000918 Disease Progression ISO RGD:1321585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1321587 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:28492532 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0080600 COVID-19 ISO RGD:1321587 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:7240710 20170308 OMIM 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 102 PMID:24033266|PMID:24741995|PMID:25741868|PMID:28492532|PMID:30303587 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:630 genetic disease ISO RGD:1321587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19799886 1310590 Eps8 epidermal growth factor receptor pathway substrate 8 gene DOID:9008681 Deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 1310592 Ints8 integrator complex subunit 8 gene DOID:10283 prostate cancer ISO RGD:1604344 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310592 Ints8 integrator complex subunit 8 gene DOID:2843 long QT syndrome ISO RGD:1604344 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1310592 Ints8 integrator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310592 Ints8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:7240710 20191016 OMIM 1310592 Ints8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity PMID:25741868|PMID:28763441 1310593 Phtf2 putative homeodomain transcription factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321591 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310593 Phtf2 putative homeodomain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310593 Phtf2 putative homeodomain transcription factor 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321591 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1310594 Ogfod2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 gene DOID:630 genetic disease ISO RGD:1606222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310595 Pla2g4e phospholipase A2, group IVE gene DOID:2717 Bloom syndrome ISO RGD:1606471 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310595 Pla2g4e phospholipase A2, group IVE gene DOID:630 genetic disease ISO RGD:1606471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310595 Pla2g4e phospholipase A2, group IVE gene DOID:9256 colorectal cancer ISO RGD:1606471 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310596 Gatad2a GATA zinc finger domain containing 2A gene DOID:630 genetic disease ISO RGD:1603219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310596 Gatad2a GATA zinc finger domain containing 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1603219 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 1310596 Gatad2a GATA zinc finger domain containing 2A gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1603219 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 1310597 Poc5 POC5 centriolar protein gene DOID:0060249 scoliosis ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25642776|PMID:25741868|PMID:28492532 1310597 Poc5 POC5 centriolar protein gene DOID:10584 retinitis pigmentosa ISO RGD:1605874 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:29272404 1310597 Poc5 POC5 centriolar protein gene DOID:3323 Sandhoff disease ISO RGD:1605874 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 1310597 Poc5 POC5 centriolar protein gene DOID:630 genetic disease ISO RGD:1605874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310597 Poc5 POC5 centriolar protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605874 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310598 Ms4a3 membrane spanning 4-domains A3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1321597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1310598 Ms4a3 membrane spanning 4-domains A3 gene DOID:1059 intellectual disability ISO RGD:1321597 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310598 Ms4a3 membrane spanning 4-domains A3 gene DOID:630 genetic disease ISO RGD:1321597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310600 Rad54l RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:7240710 20130717 OMIM 1310600 Rad54l RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362365 1310600 Rad54l RAD54 like gene DOID:0060252 sclerocornea ISS RGD:1321601 D RGD:13592920 20200123 MouseDO OMIM:181700 1310600 Rad54l RAD54 like gene DOID:14566 disease of cellular proliferation ISO RGD:1321600 D RGD:1599748|PMID:10362365 20070213 RGD 1310600 Rad54l RAD54 like gene DOID:1612 breast cancer ISO RGD:1321600 D RGD:7240710 20180711 OMIM 1310600 Rad54l RAD54 like gene DOID:1793 pancreatic cancer ISO RGD:1321600 D RGD:2317365|PMID:16540687 20100331 RGD DNA:SNP:exon:rs1048771 (human) 1310600 Rad54l RAD54 like gene DOID:234 colon adenocarcinoma ISO RGD:1321600 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:10362365 1310600 Rad54l RAD54 like gene DOID:3007 breast ductal carcinoma ISO RGD:1321600 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10362365 1310600 Rad54l RAD54 like gene DOID:5426 primary ovarian insufficiency ISO RGD:1321600 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1310600 Rad54l RAD54 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321600 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1310600 Rad54l RAD54 like gene DOID:630 genetic disease ISO RGD:1321600 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1310600 Rad54l RAD54 like gene DOID:684 hepatocellular carcinoma ISO RGD:1321600 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310600 Rad54l RAD54 like gene DOID:9008939 Breast Neoplasms ISO RGD:1321600 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 1310600 Rad54l RAD54 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321600 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1351650 D RGD:156451664|PMID:28424975 20230313 RGD 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1351650 D RGD:192379484|PMID:28466428 20230322 RGD 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1616004 D RGD:192186227|PMID:32075417 20230322 RGD 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1616004 D RGD:11076207|PMID:26586661 20230310 RGD 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1616004 D RGD:156451664|PMID:28424975 20230313 RGD 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1310603 Etv2 ETS variant transcription factor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1310603 Etv2 ETS variant transcription factor 2 gene DOID:1148 polydactyly ISO RGD:1351650 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:33359164 1310603 Etv2 ETS variant transcription factor 2 gene DOID:543 dystonia ISO RGD:1351650 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1310603 Etv2 ETS variant transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310603 Etv2 ETS variant transcription factor 2 gene DOID:9009023 Aortic Remodeling ameliorates ISO RGD:1616004 D RGD:156451665|PMID:29191922 20230313 RGD 1310604 Ehbp1 EH domain binding protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346487 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1310604 Ehbp1 EH domain binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1346487 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1310604 Ehbp1 EH domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1346487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310604 Ehbp1 EH domain binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 1310604 Ehbp1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:7240710 20130425 OMIM 1310604 Ehbp1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 12 PMID:18264098 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321607 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:630 genetic disease ISO RGD:1321607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310605 Slc27a3 solute carrier family 27 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321607 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310606 Ergic2 ERGIC and golgi 2 gene DOID:630 genetic disease ISO RGD:1605678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310607 Rpl26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:7240710 20140911 OMIM 1310607 Rpl26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 PMID:22431104|PMID:25741868|PMID:28492532 1310607 Rpl26 ribosomal protein L26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:25741868|PMID:28492532 1310607 Rpl26 ribosomal protein L26 gene DOID:2729 dyskeratosis congenita ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1310607 Rpl26 ribosomal protein L26 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1310608 Fuz fuzzy planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602203 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 1310608 Fuz fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1602203 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310608 Fuz fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1602203 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:21840926|PMID:25741868|PMID:28492532 1310608 Fuz fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect susceptibility ISO RGD:1602203 D RGD:7240710 20190502 OMIM 1310608 Fuz fuzzy planar cell polarity protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1310608 Fuz fuzzy planar cell polarity protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602203 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 1310608 Fuz fuzzy planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1602203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310609 Sgf29 SAGA complex associated factor 29 gene DOID:0060041 autism spectrum disorder ISO RGD:1604249 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310609 Sgf29 SAGA complex associated factor 29 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604249 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1310609 Sgf29 SAGA complex associated factor 29 gene DOID:5419 schizophrenia ISO RGD:1604249 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310609 Sgf29 SAGA complex associated factor 29 gene DOID:630 genetic disease ISO RGD:1604249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310609 Sgf29 SAGA complex associated factor 29 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604249 D RGD:9587455|PMID:21441570 20141015 RGD associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) 1310609 Sgf29 SAGA complex associated factor 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1310610 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:630 genetic disease ISO RGD:1345880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310610 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:7240710 20221214 OMIM 1310610 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures PMID:34542157 1310610 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:7240710 20220629 OMIM 1310610 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dystonia 35, childhood-onset PMID:34542157 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:0111940 immunodeficiency 42 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:1540 parathyroid carcinoma ISO RGD:1321615 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:5812 MHC class II deficiency ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:630 genetic disease ISO RGD:1321615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310611 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321615 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310612 Rabepk Rab9 effector protein with kelch motifs gene DOID:630 genetic disease ISO RGD:1604052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310612 Rabepk Rab9 effector protein with kelch motifs gene DOID:9002189 High Myopia ISO RGD:1604052 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1310613 Itgav integrin subunit alpha V gene DOID:0050852 limb ischemia ISO RGD:1617623 D RGD:1582449|PMID:15750161 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:10763 hypertension IEP D RGD:1627642|PMID:16380536 20070821 RGD protein:increased expression:artery 1310613 Itgav integrin subunit alpha V gene DOID:11382 corneal neovascularization IDA D RGD:1582461|PMID:10664059 20061109 RGD 1310613 Itgav integrin subunit alpha V gene DOID:326 ischemia IDA D RGD:1582457|PMID:15956135 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:4195 hyperglycemia ISO RGD:1321618 D RGD:1627644|PMID:11848444 20070821 RGD mRNA:increased expression:blood vessel endothelial cell 1310613 Itgav integrin subunit alpha V gene DOID:4248 coronary stenosis IDA D RGD:1582454|PMID:11922905 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:630 genetic disease ISO RGD:1321618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310613 Itgav integrin subunit alpha V gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321618 D RGD:1582446|PMID:16809548 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:9001044 Choroidal Neovascularization IMP D RGD:1582458|PMID:15287373 20061109 RGD 1310613 Itgav integrin subunit alpha V gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:1321618 D RGD:152998949|PMID:20841470 20220708 RGD human cells in rat model 1310613 Itgav integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 1310613 Itgav integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:1582447|PMID:16102435 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321618 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310613 Itgav integrin subunit alpha V gene DOID:9006646 Metabolic Syndrome ISO RGD:1321618 D RGD:1627640|PMID:16784924 20070821 RGD 1310613 Itgav integrin subunit alpha V gene DOID:9007096 Stroke ISO RGD:1321618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 1310613 Itgav integrin subunit alpha V gene DOID:9007102 Myocardial Ischemia ISO RGD:1321618 D RGD:1582453|PMID:11997283 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:9007748 Retinal Neovascularization ISO RGD:1617623 D RGD:1582452|PMID:12063036 20061108 RGD 1310613 Itgav integrin subunit alpha V gene DOID:9009121 lung metastasis treatment ISO RGD:1321618 D RGD:152998949|PMID:20841470 20220708 RGD human cells in rat model 1310613 Itgav integrin subunit alpha V gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321618 D RGD:10755448|PMID:23770013 20160128 RGD 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1603954 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1603954 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1603954 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1603954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:1059 intellectual disability ISO RGD:1603954 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310614 Creld2 cysteine-rich with EGF-like domains 2 gene DOID:630 genetic disease ISO RGD:1603954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:24033266|PMID:25356967|PMID:25382614|PMID:25741868|PMID:26566957|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:31730530|PMID:31901042|PMID:32746448|PMID:9536098 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:7240710 20130221 OMIM 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17968484|PMID:19339287|PMID:21071250|PMID:22264772|PMID:22642865|PMID:24033266|PMID:24078573|PMID:25190158|PMID:25356967|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:27577216|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:30887117|PMID:31730530|PMID:31901042|PMID:32746448|PMID:9187484|PMID:9536098 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:11181649|PMID:15359379|PMID:16199547|PMID:22642865|PMID:25741868|PMID:28492532 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0111546 Currarino syndrome ISO RGD:1321620 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:630 genetic disease ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10485305|PMID:11170888|PMID:11181649|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:28492532|PMID:29111448|PMID:30626930|PMID:9536098 1310615 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321620 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321623 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:7240710 20140903 OMIM 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:31099476|PMID:31885218|PMID:32080176|PMID:32319008|PMID:32581362|PMID:35305867 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9000096 Lung Agenesis ISO RGD:1321623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1321623 D RGD:7240710 20170503 OMIM 1310617 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9006658 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 1310618 Mkrn2 makorin, ring finger protein, 2 gene DOID:0060583 Noonan syndrome 5 ISO RGD:1321625 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 1310618 Mkrn2 makorin, ring finger protein, 2 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1321625 D RGD:8554872 20200616 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 1310618 Mkrn2 makorin, ring finger protein, 2 gene DOID:0080690 RASopathy ISO RGD:1321625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310618 Mkrn2 makorin, ring finger protein, 2 gene DOID:630 genetic disease ISO RGD:1321625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:0050332 enlarged vestibular aqueduct ISS RGD:1321628 D RGD:13592920 20180518 MouseDO OMIM:600791 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:0050439 Usher syndrome ISO RGD:1321627 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISS RGD:1321628 D RGD:13592920 20180518 MouseDO OMIM:607197 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:12679 nephrocalcinosis ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:12414817|PMID:16769747|PMID:18368028|PMID:22509993|PMID:25741868|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:19364879|PMID:22509993|PMID:23923981|PMID:25741868|PMID:26571219|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1321627 D RGD:1599372|PMID:9916796 20070131 RGD 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:543 dystonia ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:630 genetic disease ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12566520|PMID:17669226|PMID:18368028|PMID:23923981|PMID:24033266|PMID:25285676|PMID:25498251|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34159584|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:7240710 20190315 OMIM 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness PMID:12414817|PMID:12566520|PMID:12579397|PMID:16199547|PMID:16433694|PMID:16611712|PMID:16769747|PMID:17669226|PMID:18368028|PMID:18798332|PMID:20805693|PMID:21614596|PMID:22509993|PMID:22966473|PMID:23923981|PMID:24033266|PMID:24448499|PMID:24975934|PMID:25164082|PMID:25285676|PMID:25296721|PMID:25498251|PMID:25741868|PMID:26453614|PMID:26467025|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:29310826|PMID:29627839|PMID:30076350|PMID:30311386|PMID:30558562|PMID:31949730|PMID:31959358|PMID:34159584|PMID:35738466|PMID:8651253|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:16199547|PMID:16611712|PMID:18368028|PMID:25285676|PMID:28492532|PMID:31549751|PMID:31733597|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:30311386|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:34159584|PMID:9916796 1310619 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:22509993|PMID:23923981|PMID:25741868|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 1310620 Trpm5 transient receptor potential cation channel, subfamily M, member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310620 Trpm5 transient receptor potential cation channel, subfamily M, member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321629 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1310620 Trpm5 transient receptor potential cation channel, subfamily M, member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310620 Trpm5 transient receptor potential cation channel, subfamily M, member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321629 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1310620 Trpm5 transient receptor potential cation channel, subfamily M, member 5 gene DOID:630 genetic disease ISO RGD:1321629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310620 Trpm5 transient receptor potential cation channel, subfamily M, member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1321629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1310621 Sorcs2 sortilin-related VPS10 domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1321631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310622 Stox1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:11553888|PMID:15806103 20161017 RGD DNA:missense mutation:cds:p.Y153H (human) 1310622 Stox1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:7248768|PMID:23357179 20161017 RGD human fetally expressed gene in a mouse model 1310622 Stox1 storkhead box 1 gene DOID:10591 pre-eclampsia no_association ISO RGD:1321633 D RGD:11553890|PMID:17617193 20161017 RGD DNA:missense mutation:cds:p.Y153H (human) 1310622 Stox1 storkhead box 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1321633 D RGD:11554028|PMID:20110611 20161019 RGD protein:increased expression:CA4 field of hippocampus (human) 1310622 Stox1 storkhead box 1 gene DOID:630 genetic disease ISO RGD:1321633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310622 Stox1 storkhead box 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321633 D RGD:11553897|PMID:26758611 20161017 RGD associated with Pre-Eclampsia; human gene fetally expressed in a mouse model 1310622 Stox1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:7240710 20190327 OMIM 1310622 Stox1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 PMID:15806103|PMID:17325670|PMID:33116287 1310623 Sft2d2 SFT2 domain containing 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1605217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1310623 Sft2d2 SFT2 domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605217 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310623 Sft2d2 SFT2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310623 Sft2d2 SFT2 domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605217 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310624 Nudcd1 NudC domain containing 1 gene DOID:630 genetic disease ISO RGD:1349940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310625 Apoh apolipoprotein H gene DOID:0060903 thrombosis IDA D RGD:10054118|PMID:24642748 20150728 RGD 1310625 Apoh apolipoprotein H gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321637 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 1310625 Apoh apolipoprotein H gene DOID:2349 arteriosclerosis ISO RGD:1321637 D RGD:2313992|PMID:6613192 20091029 RGD protein:increased expression:serum 1310625 Apoh apolipoprotein H gene DOID:2988 antiphospholipid syndrome ISO RGD:1321637 D RGD:10054118|PMID:24642748 20150728 RGD 1310625 Apoh apolipoprotein H gene DOID:341 peripheral vascular disease ISO RGD:1321637 D RGD:2313983|PMID:17626983 20091029 RGD 1310625 Apoh apolipoprotein H gene DOID:4449 macular retinal edema ISO RGD:1321637 D RGD:2315548|PMID:16080911 20150729 RGD associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: 1310625 Apoh apolipoprotein H gene DOID:5844 myocardial infarction IDA D RGD:10054111|PMID:12826288 20150728 RGD 1310625 Apoh apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1321637 D RGD:2313985|PMID:15322656 20091029 RGD 1310625 Apoh apolipoprotein H gene DOID:630 genetic disease ISO RGD:1321637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310625 Apoh apolipoprotein H gene DOID:8947 diabetic retinopathy ISO RGD:1321637 D RGD:2313982|PMID:18695102 20091029 RGD protein:increased expression:vitreous humor 1310625 Apoh apolipoprotein H gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1321637 D RGD:2313988|PMID:11795690 20091029 RGD 1310625 Apoh apolipoprotein H gene DOID:9002165 Diabetic Nephropathies ISO RGD:1321637 D RGD:2313989|PMID:11302005 20091029 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 1310625 Apoh apolipoprotein H gene DOID:9002231 Fetal Growth Retardation ISO RGD:1321638 D RGD:10054118|PMID:24642748 20150728 RGD 1310625 Apoh apolipoprotein H gene DOID:9003002 Fetal Resorption ISO RGD:1321638 D RGD:10054118|PMID:24642748 20150728 RGD 1310625 Apoh apolipoprotein H gene DOID:9007096 Stroke ISO RGD:1321637 D RGD:2313986|PMID:14595478 20091029 RGD 1310625 Apoh apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:10054107|PMID:23288050 20150728 RGD mRNA:increased expression:plasma: 1310625 Apoh apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321637 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 1310625 Apoh apolipoprotein H gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1321637 D RGD:2313992|PMID:6613192 20091029 RGD 1310625 Apoh apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:2313982|PMID:18695102 20091029 RGD mRNA:increased expression:retina 1310625 Apoh apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:2313991|PMID:9377806 20091029 RGD protein:increased expression:plasma 1310625 Apoh apolipoprotein H gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321637 D RGD:2313984|PMID:16126948 20091029 RGD 1310625 Apoh apolipoprotein H gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321638 D RGD:2313990|PMID:9472678 20091029 RGD 1310626 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1310626 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1310626 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:3312 bipolar disorder ISO RGD:1343061 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1310626 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:630 genetic disease ISO RGD:1343061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310626 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:9001488 Human Influenza ISO RGD:1343061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1310628 Fbxo15 F-box protein 15 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321642 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1310628 Fbxo15 F-box protein 15 gene DOID:630 genetic disease ISO RGD:1321642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310628 Fbxo15 F-box protein 15 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321642 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1310628 Fbxo15 F-box protein 15 gene DOID:8445 intestinal volvulus ISO RGD:1321642 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1310628 Fbxo15 F-box protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321642 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310628 Fbxo15 F-box protein 15 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321642 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1310629 Nkx2-8 NK2 homeobox 8 gene DOID:0080016 spina bifida ISO RGD:12245875 D RGD:9068941 20210604 OMIA Spinal dysraphism PMID:1641930|PMID:22843830|PMID:23874236|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905 1310629 Nkx2-8 NK2 homeobox 8 gene DOID:12859 choreatic disease ISO RGD:1321643 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 1310629 Nkx2-8 NK2 homeobox 8 gene DOID:630 genetic disease ISO RGD:1321643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310629 Nkx2-8 NK2 homeobox 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080600 COVID-19 ISO RGD:1321645 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:1826 epilepsy ISO RGD:1321645 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:3652 Leigh disease ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:630 genetic disease ISO RGD:1321645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310630 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:0060476 Perlman syndrome ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:0060478 Zika fever ISO RGD:1321647 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:28694387 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:7240710 20130425 OMIM 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 10, susceptibility to PMID:17200669|PMID:17435756|PMID:18438405|PMID:18852889|PMID:19337756|PMID:24553140|PMID:27273576 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:630 genetic disease ISO RGD:1321647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:8778 Crohn's disease ISO RGD:1321647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 1310631 Atg16l1 autophagy related 16-like 1 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:11561938|PMID:24998254 20161111 RGD 1310633 Upk3a uroplakin 3A gene DOID:0080206 CAKUT1 ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:15888565|PMID:16731295 1310633 Upk3a uroplakin 3A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321651 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1310633 Upk3a uroplakin 3A gene DOID:1059 intellectual disability ISO RGD:1321651 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310633 Upk3a uroplakin 3A gene DOID:630 genetic disease ISO RGD:1321651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310633 Upk3a uroplakin 3A gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:15888565|PMID:27657687|PMID:28492532 1310633 Upk3a uroplakin 3A gene DOID:9620 vesicoureteral reflux ISS RGD:1321652 D RGD:13592920 20180518 MouseDO OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 1310636 Zfp7 zinc finger protein 7 gene DOID:630 genetic disease ISO RGD:1321655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310638 Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3652 Leigh disease ISO RGD:1321659 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leigh syndrome 1310638 Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321659 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 1310638 Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:630 genetic disease ISO RGD:1321659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310639 Ccna1 cyclin A1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1321661 D RGD:2316302|PMID:18612129 20100204 RGD human gene, mouse model 1310639 Ccna1 cyclin A1 gene DOID:11166 papillomavirus infectious disease ISO RGD:1321661 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 1310639 Ccna1 cyclin A1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321661 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23358896|PMID:29464035 1310639 Ccna1 cyclin A1 gene DOID:630 genetic disease ISO RGD:1321661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310639 Ccna1 cyclin A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321661 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12029619 1310639 Ccna1 cyclin A1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1321661 D RGD:2289152|PMID:15800920 20100205 RGD mRNA:decreased expression:testis (human) 1310639 Ccna1 cyclin A1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321661 D RGD:2316304|PMID:10068680 20100204 RGD protein:increased expression:leukocyte (human) 1310640 Fndc1 fibronectin type III domain containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1310640 Fndc1 fibronectin type III domain containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1321663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1310640 Fndc1 fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1321663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310641 Cfap206 cilia and flagella associated protein 206 gene DOID:630 genetic disease ISO RGD:1321665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310643 Cass4 Cas scaffold protein family member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1321668 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:30320580|PMID:33589840 1310643 Cass4 Cas scaffold protein family member 4 gene DOID:630 genetic disease ISO RGD:1321668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310644 Cul2 cullin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321670 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 1310644 Cul2 cullin 2 gene DOID:630 genetic disease ISO RGD:1321670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310645 Zfp407 zinc finger protein 407 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1310645 Zfp407 zinc finger protein 407 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1344883 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 1310645 Zfp407 zinc finger protein 407 gene DOID:630 genetic disease ISO RGD:1344883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310645 Zfp407 zinc finger protein 407 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1310645 Zfp407 zinc finger protein 407 gene DOID:8445 intestinal volvulus ISO RGD:1344883 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1310645 Zfp407 zinc finger protein 407 gene DOID:9000997 Tsukahara Syndrome ISO RGD:1344883 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation PMID:25741868 1310645 Zfp407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:7240710 20211215 OMIM 1310645 Zfp407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies PMID:24907849|PMID:32737394 1310645 Zfp407 zinc finger protein 407 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344883 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310645 Zfp407 zinc finger protein 407 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344883 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1310646 Wdr18 WD repeat domain 18 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321673 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1310646 Wdr18 WD repeat domain 18 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1321673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1310646 Wdr18 WD repeat domain 18 gene DOID:5339 cyclic hematopoiesis ISO RGD:1321673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1310646 Wdr18 WD repeat domain 18 gene DOID:630 genetic disease ISO RGD:1321673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:15654338|PMID:24033266|PMID:25741868 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1603024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1603024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:7240710 20130731 OMIM 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:15654338|PMID:16868047|PMID:24033266|PMID:25741868|PMID:28492532 1310648 Mrap melanocortin 2 receptor accessory protein gene DOID:9553 adrenal gland disease ISS RGD:1621455 D RGD:13592920 20191024 MouseDO 1310649 Grwd1 glutamate-rich WD repeat containing 1 gene DOID:10283 prostate cancer ISO RGD:1344190 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310649 Grwd1 glutamate-rich WD repeat containing 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344190 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1310649 Grwd1 glutamate-rich WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1344190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310649 Grwd1 glutamate-rich WD repeat containing 1 gene DOID:9006205 Animal Disease Models ISO RGD:1344190 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1310650 Kif14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 1310650 Kif14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:23308235|PMID:28492532|PMID:29343805|PMID:30388224 1310650 Kif14 kinesin family member 14 gene DOID:0080600 COVID-19 ISO RGD:1321678 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310650 Kif14 kinesin family member 14 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310650 Kif14 kinesin family member 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1321678 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310650 Kif14 kinesin family member 14 gene DOID:630 genetic disease ISO RGD:1321678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310650 Kif14 kinesin family member 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1321678 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310650 Kif14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:7240710 20170510 OMIM 1310650 Kif14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel syndrome 12 PMID:24128419|PMID:25741868|PMID:28492532 1310650 Kif14 kinesin family member 14 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321678 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310650 Kif14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:7240710 20190315 OMIM 1310650 Kif14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive PMID:23308235|PMID:25741868|PMID:28492532|PMID:28892560|PMID:29343805|PMID:30388224 1310650 Kif14 kinesin family member 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321678 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310651 Rbm33 RNA binding motif protein 33 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1604982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 1310651 Rbm33 RNA binding motif protein 33 gene DOID:12849 autistic disorder ISO RGD:1604982 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310651 Rbm33 RNA binding motif protein 33 gene DOID:630 genetic disease ISO RGD:1604982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310652 Lad1 ladinin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310652 Lad1 ladinin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310652 Lad1 ladinin 1 gene DOID:630 genetic disease ISO RGD:1321680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310652 Lad1 ladinin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310652 Lad1 ladinin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321680 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310654 Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) gene DOID:2717 Bloom syndrome ISO RGD:1321684 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310654 Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) gene DOID:630 genetic disease ISO RGD:1321684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310654 Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) gene DOID:9256 colorectal cancer ISO RGD:1321684 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310655 Abhd3 abhydrolase domain containing 3, phospholipase gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1310655 Abhd3 abhydrolase domain containing 3, phospholipase gene DOID:1059 intellectual disability ISO RGD:1321686 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310655 Abhd3 abhydrolase domain containing 3, phospholipase gene DOID:630 genetic disease ISO RGD:1321686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310656 Pheta1 PH domain containing endocytic trafficking adaptor 1 gene DOID:630 genetic disease ISO RGD:1602835 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310656 Pheta1 PH domain containing endocytic trafficking adaptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602835 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321690 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25558065 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1321690 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1321690 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:21681106 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321690 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:630 genetic disease ISO RGD:1321690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310658 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321690 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1321693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080208 non-alcoholic fatty liver disease ISS RGD:1321694 D RGD:13592920 20210826 MouseDO OMIM:613282 | OMIM:613387 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080600 COVID-19 ISO RGD:1321693 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321693 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:630 genetic disease ISO RGD:1321693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310660 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1310661 Noc4l nucleolar complex associated 4 homolog gene DOID:630 genetic disease ISO RGD:1604300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310661 Noc4l nucleolar complex associated 4 homolog gene DOID:9256 colorectal cancer ISO RGD:1604300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1310662 Fbf1 Fas binding factor 1 gene DOID:630 genetic disease ISO RGD:1321696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310663 Nol4 nucleolar protein 4 gene DOID:1059 intellectual disability ISO RGD:1321698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310663 Nol4 nucleolar protein 4 gene DOID:630 genetic disease ISO RGD:1321698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310664 Tpr translocated promoter region, nuclear basket protein gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1321699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:25741868|PMID:29397575 1310664 Tpr translocated promoter region, nuclear basket protein gene DOID:1059 intellectual disability ISO RGD:1321699 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310664 Tpr translocated promoter region, nuclear basket protein gene DOID:1540 parathyroid carcinoma ISO RGD:1321699 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310664 Tpr translocated promoter region, nuclear basket protein gene DOID:630 genetic disease ISO RGD:1321699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310664 Tpr translocated promoter region, nuclear basket protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 1310664 Tpr translocated promoter region, nuclear basket protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321699 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310667 Slc25a2 solute carrier family 25 member 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310667 Slc25a2 solute carrier family 25 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310667 Slc25a2 solute carrier family 25 member 2 gene DOID:630 genetic disease ISO RGD:1347291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310667 Slc25a2 solute carrier family 25 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347291 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310667 Slc25a2 solute carrier family 25 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347291 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1310667 Slc25a2 solute carrier family 25 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310668 Afap1l2 actin filament associated protein 1-like 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1321706 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 1310668 Afap1l2 actin filament associated protein 1-like 2 gene DOID:630 genetic disease ISO RGD:1321706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310668 Afap1l2 actin filament associated protein 1-like 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1321706 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 1310669 Cwc15 CWC15 spliceosome-associated protein gene DOID:1059 intellectual disability ISO RGD:1604821 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310669 Cwc15 CWC15 spliceosome-associated protein gene DOID:12704 ataxia telangiectasia ISO RGD:1604821 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1310670 Iqch IQ motif containing H gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1310670 Iqch IQ motif containing H gene DOID:1909 melanoma ISO RGD:1604310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1310670 Iqch IQ motif containing H gene DOID:2717 Bloom syndrome ISO RGD:1604310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310670 Iqch IQ motif containing H gene DOID:630 genetic disease ISO RGD:1604310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310670 Iqch IQ motif containing H gene DOID:9256 colorectal cancer ISO RGD:1604310 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310671 Rmi1 RecQ mediated genome instability 1 gene DOID:0080600 COVID-19 ISO RGD:1321710 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310671 Rmi1 RecQ mediated genome instability 1 gene DOID:630 genetic disease ISO RGD:1321710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310671 Rmi1 RecQ mediated genome instability 1 gene DOID:9256 colorectal cancer ISO RGD:1321710 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1310672 Arhgef3 Rho guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1321712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310674 Smpd4 sphingomyelin phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1604348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310674 Smpd4 sphingomyelin phosphodiesterase 4 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1604348 D RGD:7240710 20191113 OMIM 1310674 Smpd4 sphingomyelin phosphodiesterase 4 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1604348 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies PMID:25741868|PMID:31495489 1310675 Ropn1 rhophilin associated tail protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1310675 Ropn1 rhophilin associated tail protein 1 gene DOID:630 genetic disease ISO RGD:1344223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310675 Ropn1 rhophilin associated tail protein 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 1310675 Ropn1 rhophilin associated tail protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344223 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1310675 Ropn1 rhophilin associated tail protein 1 gene DOID:9270 alkaptonuria ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321718 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:630 genetic disease ISO RGD:1321718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1321718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321718 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321718 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1310676 Pcdhga8 protocadherin gamma subfamily A, 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310677 Togaram2 TOG array regulator of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1603353 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310677 Togaram2 TOG array regulator of axonemal microtubules 2 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1603353 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 1310678 Cldn15 claudin 15 gene DOID:1790 malignant mesothelioma ISO RGD:1321720 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 1310678 Cldn15 claudin 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321720 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310678 Cldn15 claudin 15 gene DOID:630 genetic disease ISO RGD:1321720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310679 Foxs1 forkhead box S1 gene DOID:630 genetic disease ISO RGD:1321722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310680 Tmem151a transmembrane protein 151A gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1606118 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1310680 Tmem151a transmembrane protein 151A gene DOID:1059 intellectual disability ISO RGD:1606118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310680 Tmem151a transmembrane protein 151A gene DOID:11612 polycystic ovary syndrome ISO RGD:1606118 D RGD:11554173 20161122 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1310680 Tmem151a transmembrane protein 151A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310680 Tmem151a transmembrane protein 151A gene DOID:2746 glycogen storage disease V ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1310680 Tmem151a transmembrane protein 151A gene DOID:630 genetic disease ISO RGD:1606118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310680 Tmem151a transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:7240710 20230505 OMIM 1310680 Tmem151a transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 PMID:34518509|PMID:34820915|PMID:34970790|PMID:35587630|PMID:35727387 1310680 Tmem151a transmembrane protein 151A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310680 Tmem151a transmembrane protein 151A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:0060340 ciliopathy ISO RGD:1604747 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:11193 syndactyly ISO RGD:1604747 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:1148 polydactyly ISS RGD:1332560 D RGD:13592920 20190606 MouseDO OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1604747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:7240710 20190315 OMIM 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 PMID:25741868|PMID:30395363 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 1310681 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly type A PMID:30395363 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:0050444 infantile Refsum disease ISO RGD:1321726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1321726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10332040|PMID:10441568|PMID:19449432 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1321726 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:7240710 20140911 OMIM 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:10441568|PMID:16006427|PMID:16199547|PMID:17041890|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:34055681|PMID:35854306|PMID:9480815|PMID:9536098 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:10588 adrenoleukodystrophy ISO RGD:1321726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10441568 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:630 genetic disease ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:7240710 20140911 OMIM 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B PMID:10332040|PMID:10441568|PMID:16006427|PMID:17041890|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:9480815 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:905 Zellweger syndrome ISO RGD:1321726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10332040|PMID:19449432 1310682 Pex13 peroxisomal biogenesis factor 13 gene DOID:905 Zellweger syndrome ISO RGD:1321726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 1310683 Ccnyl1 cyclin Y-like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1310683 Ccnyl1 cyclin Y-like 1 gene DOID:630 genetic disease ISO RGD:1606146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310683 Ccnyl1 cyclin Y-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606146 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310684 Immt inner membrane mitochondrial protein gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1321729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1310684 Immt inner membrane mitochondrial protein gene DOID:630 genetic disease ISO RGD:1321729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310684 Immt inner membrane mitochondrial protein gene DOID:8398 osteoarthritis ISO RGD:1321729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1310684 Immt inner membrane mitochondrial protein gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1321729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 1310684 Immt inner membrane mitochondrial protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321729 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1310685 Atg13 autophagy related 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1310685 Atg13 autophagy related 13 gene DOID:10283 prostate cancer ISO RGD:1602498 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310685 Atg13 autophagy related 13 gene DOID:1059 intellectual disability ISO RGD:1602498 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310685 Atg13 autophagy related 13 gene DOID:630 genetic disease ISO RGD:1602498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310686 Cdip1 cell death-inducing p53 target 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310686 Cdip1 cell death-inducing p53 target 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1321732 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1310686 Cdip1 cell death-inducing p53 target 1 gene DOID:1826 epilepsy ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310686 Cdip1 cell death-inducing p53 target 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310686 Cdip1 cell death-inducing p53 target 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1310686 Cdip1 cell death-inducing p53 target 1 gene DOID:630 genetic disease ISO RGD:1321732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321734 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:9000310 Lung Injury ISO RGD:1321734 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21709667 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321734 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310687 Elf3 E74 like ETS transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321734 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310688 Nck1 NCK adaptor protein 1 gene DOID:1184 nephrotic syndrome ISO RGD:1321736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 1310688 Nck1 NCK adaptor protein 1 gene DOID:576 proteinuria ISO RGD:1321736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 1310688 Nck1 NCK adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1321736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310688 Nck1 NCK adaptor protein 1 gene DOID:9001542 Albuminuria ISO RGD:1321736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 1310688 Nck1 NCK adaptor protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321736 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1310690 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1321740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310690 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1310691 Golt1b golgi transport 1B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1349948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 1310691 Golt1b golgi transport 1B gene DOID:630 genetic disease ISO RGD:1349948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1321743 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321743 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:31619059|PMID:9536098 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:7240710 20200610 OMIM 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit PMID:25741868|PMID:27508872|PMID:28097321|PMID:28492532|PMID:32293671 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1310692 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321743 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310693 Rsph9 radial spoke head component 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310693 Rsph9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:7240710 20130221 OMIM 1310693 Rsph9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 1310693 Rsph9 radial spoke head component 9 gene DOID:630 genetic disease ISO RGD:1321745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310693 Rsph9 radial spoke head component 9 gene DOID:905 Zellweger syndrome ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1310693 Rsph9 radial spoke head component 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 1310694 Bnc2 basonuclin 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1321747 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 1310694 Bnc2 basonuclin 2 gene DOID:630 genetic disease ISO RGD:1321747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310694 Bnc2 basonuclin 2 gene DOID:674 cleft palate ISO RGD:1321747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 1310694 Bnc2 basonuclin 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 1310694 Bnc2 basonuclin 2 gene DOID:9006024 Hypotension ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:24033266|PMID:28492532 1310694 Bnc2 basonuclin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:7240710 20191113 OMIM 1310694 Bnc2 basonuclin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:25741868|PMID:28492532|PMID:31051115 1310694 Bnc2 basonuclin 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350214 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Usher syndrome 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:32333447 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0050952 spastic ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32333447 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1350214 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:7240710 20170301 OMIM 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w PMID:22930593|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:29235198|PMID:29790872|PMID:32543048 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:1350214 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:28492532 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1350214 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:7240710 20140903 OMIM 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:16199547|PMID:17576681|PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:31211171|PMID:32333447|PMID:32543048|PMID:9536098 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1350214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25741868|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:32543048 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:1350214 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350214 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310695 Hars1 histidyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1350214 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pes cavus 1310697 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:10584 retinitis pigmentosa ISS RGD:1321753 D RGD:13592920 20190822 MouseDO 1310697 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:630 genetic disease ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1310697 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:8501 fundus dystrophy ISO RGD:1321752 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28285769|PMID:28492532 1310697 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321752 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310697 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:7240710 20190315 OMIM 1310697 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies PMID:10420199|PMID:17576681|PMID:25741868|PMID:28285769|PMID:28492532|PMID:9536098 1310698 Kazald1 Kazal-type serine peptidase inhibitor domain 1 gene DOID:630 genetic disease ISO RGD:1321754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:0080600 COVID-19 ISO RGD:1321756 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:7240710 20190315 OMIM 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 7 PMID:16199547|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:22208203|PMID:22428539|PMID:25044164|PMID:25741868|PMID:26522472|PMID:28492532 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:7240710 20191009 OMIM 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: HEMPAS anemia PMID:16199547|PMID:17576681|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:20941788|PMID:21252497|PMID:21850656|PMID:22208203|PMID:22428539|PMID:23453696|PMID:25044164|PMID:25741868|PMID:26522472|PMID:27471141|PMID:28492532|PMID:29031773|PMID:29846281|PMID:29901818|PMID:32581362|PMID:32641076|PMID:33159567|PMID:34093240|PMID:34201899|PMID:9536098 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1321756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19561605 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1321756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:24033266|PMID:25741868 1310699 Sec23b Sec23 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:7240710 20130221 OMIM 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23757202|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25640679|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:33643843|PMID:34567092|PMID:9536098 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1321758 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:34567092|PMID:9536098 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1321758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32064623|PMID:34567092 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321758 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 1310700 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:936 brain disease ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:14709599|PMID:14973778|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32190976|PMID:34567092|PMID:9536098 1310701 Kdm1b lysine demethylase 1B gene DOID:0060224 atrial fibrillation ISO RGD:1321760 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1310701 Kdm1b lysine demethylase 1B gene DOID:630 genetic disease ISO RGD:1321760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310701 Kdm1b lysine demethylase 1B gene DOID:768 retinoblastoma ISO RGD:1321760 D RGD:9588276|PMID:16180235 20141023 RGD mRNA:increased expression:retina (human) 1310702 Spag1 sperm associated antigen 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 1310702 Spag1 sperm associated antigen 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 1310702 Spag1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:7240710 20140911 OMIM 1310702 Spag1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24055112|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 1310702 Spag1 sperm associated antigen 1 gene DOID:0111590 Cohen syndrome ISO RGD:1321762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1310702 Spag1 sperm associated antigen 1 gene DOID:630 genetic disease ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310702 Spag1 sperm associated antigen 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 1310703 Cbll1 Cbl proto-oncogene like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321764 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310703 Cbll1 Cbl proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1321764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310705 Pwp1 PWP1 homolog, endonuclein gene DOID:630 genetic disease ISO RGD:1605095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310706 Cic capicua transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1321769 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28288114 1310706 Cic capicua transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1310706 Cic capicua transcriptional repressor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1321769 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability 1310706 Cic capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:7240710 20190315 OMIM 1310706 Cic capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 PMID:21076407|PMID:24307393|PMID:24728327|PMID:25741868|PMID:28288114|PMID:28492532|PMID:32820034|PMID:34906502|PMID:35165976 1310706 Cic capicua transcriptional repressor gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation PMID:25741868 1310706 Cic capicua transcriptional repressor gene DOID:1059 intellectual disability ISO RGD:1321769 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:21076407|PMID:28288114 1310706 Cic capicua transcriptional repressor gene DOID:1059 intellectual disability ISO RGD:1321769 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1310706 Cic capicua transcriptional repressor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321769 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28288114 1310706 Cic capicua transcriptional repressor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1310706 Cic capicua transcriptional repressor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1310706 Cic capicua transcriptional repressor gene DOID:150 disease of mental health ISS RGD:1321770 D RGD:13592920 20190214 MouseDO 1310706 Cic capicua transcriptional repressor gene DOID:1826 epilepsy ISO RGD:1321769 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1310706 Cic capicua transcriptional repressor gene DOID:2340 craniosynostosis ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 1310706 Cic capicua transcriptional repressor gene DOID:3181 oligodendroglioma ISO RGD:1321769 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 1310706 Cic capicua transcriptional repressor gene DOID:5419 schizophrenia ISO RGD:1321769 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310706 Cic capicua transcriptional repressor gene DOID:630 genetic disease ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532|PMID:34906502 1310706 Cic capicua transcriptional repressor gene DOID:7154 anaplastic oligodendroglioma ISO RGD:1321769 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Anaplastic oligodendroglioma 1310706 Cic capicua transcriptional repressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321769 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 1310706 Cic capicua transcriptional repressor gene DOID:9001153 FG Syndrome 4 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FG syndrome 4 PMID:25741868 1310706 Cic capicua transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1321769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 1310706 Cic capicua transcriptional repressor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1310706 Cic capicua transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321769 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310706 Cic capicua transcriptional repressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321769 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28288114 1310706 Cic capicua transcriptional repressor gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1321769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 1310706 Cic capicua transcriptional repressor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1321769 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 1310706 Cic capicua transcriptional repressor gene DOID:9269 maple syrup urine disease ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1310707 Diaph1 diaphanous-related formin 1 gene DOID:0060744 Pendred syndrome ISO RGD:1321771 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 1310707 Diaph1 diaphanous-related formin 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1310707 Diaph1 diaphanous-related formin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310707 Diaph1 diaphanous-related formin 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:7240710 20130221 OMIM 1310707 Diaph1 diaphanous-related formin 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:30311386|PMID:30896630|PMID:32678080|PMID:35307828|PMID:9360932|PMID:9536098 1310707 Diaph1 diaphanous-related formin 1 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1321771 D RGD:1601058|PMID:9360932 20070404 RGD autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation 1310707 Diaph1 diaphanous-related formin 1 gene DOID:10907 microcephaly ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24781755|PMID:25558065|PMID:25741868|PMID:28492532 1310707 Diaph1 diaphanous-related formin 1 gene DOID:14264 benign neonatal seizures ISO RGD:1321771 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Neonatal seizure 1310707 Diaph1 diaphanous-related formin 1 gene DOID:1826 epilepsy ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure Disorders PMID:24781755|PMID:25558065 1310707 Diaph1 diaphanous-related formin 1 gene DOID:3633 beta-mannosidosis ISO RGD:1321771 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 1310707 Diaph1 diaphanous-related formin 1 gene DOID:630 genetic disease ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22938506|PMID:24033266|PMID:28492532 1310707 Diaph1 diaphanous-related formin 1 gene DOID:8725 vascular dementia ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24781755|PMID:25558065 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321771 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9004538 Hearing Loss ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:32581362 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:7240710 20151209 OMIM 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25558065|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:30311386|PMID:30896630|PMID:32678080|PMID:35307828|PMID:9360932|PMID:9536098 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310707 Diaph1 diaphanous-related formin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24781755|PMID:25558065 1310708 Fndc8 fibronectin type III domain containing 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1310708 Fndc8 fibronectin type III domain containing 8 gene DOID:630 genetic disease ISO RGD:1603304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310708 Fndc8 fibronectin type III domain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603304 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310710 Ccdc77 coiled-coil domain containing 77 gene DOID:630 genetic disease ISO RGD:1601842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310710 Ccdc77 coiled-coil domain containing 77 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1601842 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1321777 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1321777 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1321777 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:630 genetic disease ISO RGD:1321777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321777 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1321777 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1310711 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1310712 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:1059 intellectual disability ISO RGD:1345109 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310712 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:11612 polycystic ovary syndrome ISO RGD:1345109 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1310712 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:3310 atopic dermatitis ISO RGD:1345109 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 1310712 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:630 genetic disease ISO RGD:1345109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310712 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345109 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1310712 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:9008939 Breast Neoplasms ISO RGD:1345109 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19636701 1310713 Larp4b La ribonucleoprotein 4B gene DOID:2661 myoepithelioma ISO RGD:1321780 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1310713 Larp4b La ribonucleoprotein 4B gene DOID:630 genetic disease ISO RGD:1321780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310713 Larp4b La ribonucleoprotein 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321780 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1310714 Cbx1 chromobox 1 gene DOID:10283 prostate cancer ISO RGD:1321782 D RGD:9586744|PMID:18436254 20141006 RGD protein:increased expression:prostate: 1310714 Cbx1 chromobox 1 gene DOID:630 genetic disease ISO RGD:1321782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310714 Cbx1 chromobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1310715 Sytl1 synaptotagmin-like 1 gene DOID:630 genetic disease ISO RGD:1321784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310716 Ccr10 C-C motif chemokine receptor 10 gene DOID:1824 status epilepticus ISO RGD:1606584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 1310716 Ccr10 C-C motif chemokine receptor 10 gene DOID:630 genetic disease ISO RGD:1606584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0050795 cone dystrophy ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15137946|PMID:17576681|PMID:20498079|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31506453|PMID:9536098 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:7240710 20170301 OMIM 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30718709|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321789 D RGD:1579974|PMID:15137946 19990101 RGD DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human) 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:22626039|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25741868|PMID:26325687|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30614526|PMID:30718709|PMID:31506453|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:630 genetic disease ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310718 Bbs5 Bardet-Biedl syndrome 5 gene DOID:8501 fundus dystrophy ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15137946|PMID:16199547|PMID:16877420|PMID:21209035|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606 1310719 Xkr6 XK related 6 gene DOID:630 genetic disease ISO RGD:1321790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310719 Xkr6 XK related 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321790 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310721 Dusp16 dual specificity phosphatase 16 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1310721 Dusp16 dual specificity phosphatase 16 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1321793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1310721 Dusp16 dual specificity phosphatase 16 gene DOID:224 transient cerebral ischemia IEP D RGD:7775014|PMID:23280045 20131230 RGD protein:increased expression, altered localization:hippocampus, cytosol, nucleus 1310721 Dusp16 dual specificity phosphatase 16 gene DOID:630 genetic disease ISO RGD:1321793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310721 Dusp16 dual specificity phosphatase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310722 Ubn2 ubinuclein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:2302451 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28263302 1310722 Ubn2 ubinuclein 2 gene DOID:0080690 RASopathy ISO RGD:2302451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1310722 Ubn2 ubinuclein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2302451 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310722 Ubn2 ubinuclein 2 gene DOID:630 genetic disease ISO RGD:2302451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310723 Dhx8 DEAH-box helicase 8 gene DOID:0080205 CAKUT ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 1310723 Dhx8 DEAH-box helicase 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321795 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 1310723 Dhx8 DEAH-box helicase 8 gene DOID:630 genetic disease ISO RGD:1321795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310724 Snrnp35 small nuclear ribonucleoprotein U11/U12 subunit 35 gene DOID:630 genetic disease ISO RGD:1602490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310725 Tmem176a transmembrane protein 176A gene DOID:2843 long QT syndrome ISO RGD:1602320 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1310725 Tmem176a transmembrane protein 176A gene DOID:630 genetic disease ISO RGD:1602320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310726 Cep135 centrosomal protein 135 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1350849 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1310726 Cep135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:7240710 20140911 OMIM 1310726 Cep135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:30214071|PMID:31696992 1310726 Cep135 centrosomal protein 135 gene DOID:630 genetic disease ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:31696992|PMID:9536098 1310727 Fam219b family with sequence similarity 219, member B gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1321800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome 1310727 Fam219b family with sequence similarity 219, member B gene DOID:2717 Bloom syndrome ISO RGD:1321800 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310727 Fam219b family with sequence similarity 219, member B gene DOID:5419 schizophrenia ISO RGD:1321800 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310727 Fam219b family with sequence similarity 219, member B gene DOID:630 genetic disease ISO RGD:1321800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310727 Fam219b family with sequence similarity 219, member B gene DOID:9256 colorectal cancer ISO RGD:1321800 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310729 Spice1 spindle and centriole associated protein 1 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 1310729 Spice1 spindle and centriole associated protein 1 gene DOID:630 genetic disease ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310733 Mlph melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:7240710 20130221 OMIM 1310733 Mlph melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:21883982|PMID:22711375|PMID:25741868|PMID:26915675|PMID:28492532|PMID:30389201|PMID:31721180 1310733 Mlph melanophilin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1310733 Mlph melanophilin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1310733 Mlph melanophilin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321808 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1310733 Mlph melanophilin gene DOID:1059 intellectual disability ISO RGD:1321808 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310733 Mlph melanophilin gene DOID:630 genetic disease ISO RGD:1321808 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310733 Mlph melanophilin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1310733 Mlph melanophilin gene DOID:987 alopecia ISO RGD:12374033 D RGD:9068941 20230128 OMIA Coat colour, dilution, MLPH-related PMID:11887392|PMID:12358609|PMID:15016299|PMID:15958794|PMID:15960853|PMID:16131833|PMID:16674733|PMID:17519392|PMID:19436637|PMID:19521467|PMID:29349785|PMID:32531980|PMID:34088257|PMID:34751460|PMID:35510419|PMID:36427679|PMID:5019544|PMID:591423|PMID:7725619|PMID:8257319|PMID:8533225|PMID:8735542|PMID:9789677 1310734 Pla2g7 phospholipase A2 group VII gene DOID:0050848 obstructive sleep apnea ISO RGD:1321810 D RGD:6482785|PMID:21698055 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:0050851 glomerulosclerosis ISO RGD:1321810 D RGD:7248790|PMID:16213192 20130820 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321810 D RGD:6482771|PMID:22112193 20120502 RGD protein:increased expression:serum 1310734 Pla2g7 phospholipase A2 group VII gene DOID:0080379 nephrotic syndrome type 2 disease_progression ISO RGD:1321810 D RGD:7248793|PMID:9853251 20130820 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:0110098 atopic dermatitis 2 ISO RGD:1321810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatitis, atopic, 2 PMID:25741868 1310734 Pla2g7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome IEP D RGD:7257517|PMID:8692015 20130821 RGD protein:increased activity:plasma 1310734 Pla2g7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1321810 D RGD:7248795|PMID:15292677 20130820 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:1321810 D RGD:7257516|PMID:10873870 20130821 RGD associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) 1310734 Pla2g7 phospholipase A2 group VII gene DOID:13001 carotid stenosis severity ISO RGD:1321810 D RGD:6482772|PMID:22075154 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:1307 dementia ISO RGD:1321810 D RGD:6482779|PMID:16278861 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321810 D RGD:7248796|PMID:12590019 20130820 RGD associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human) 1310734 Pla2g7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321811 D RGD:6482784|PMID:21970837 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2377 multiple sclerosis ISO RGD:1321810 D RGD:6482783|PMID:22246459 20120502 RGD protein:increased expression:plasma 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10733466 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:1581025|PMID:10733466 19990101 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:8554872 20150211 ClinVar ClinVar Annotator: match by term: Asthma and atopy, susceptibility to PMID:10733466|PMID:15115767 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2841 asthma susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2921 glomerulonephritis ISO RGD:1321810 D RGD:7248794|PMID:8730430 20130820 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1321810 D RGD:7257515|PMID:12220450 20130821 RGD DNA:polymorphism:exon: 1310734 Pla2g7 phospholipase A2 group VII gene DOID:3393 coronary artery disease disease_progression ISO RGD:1321810 D RGD:6482777|PMID:17070179 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:3393 coronary artery disease susceptibility ISO RGD:1321810 D RGD:6482781|PMID:15115767 20120502 RGD DNA:polymorphism: :p.A379V (human) 1310734 Pla2g7 phospholipase A2 group VII gene DOID:3407 carotid artery disease severity ISO RGD:1321810 D RGD:6482769|PMID:22499993 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:3526 cerebral infarction ISO RGD:1321810 D RGD:6482775|PMID:18201705 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:576 proteinuria ISO RGD:1321810 D RGD:7248792|PMID:10430976 20130820 RGD DNA:mutation: :994G>T(human) 1310734 Pla2g7 phospholipase A2 group VII gene DOID:5844 myocardial infarction ISO RGD:1321810 D RGD:6482786|PMID:19644070 20120502 RGD protein:decreased expression:serum 1310734 Pla2g7 phospholipase A2 group VII gene DOID:6000 congestive heart failure ISO RGD:1321810 D RGD:6482778|PMID:16952920 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:630 genetic disease ISO RGD:1321810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310734 Pla2g7 phospholipase A2 group VII gene DOID:655 inherited metabolic disorder ISO RGD:1321810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8675689 1310734 Pla2g7 phospholipase A2 group VII gene DOID:7148 rheumatoid arthritis ISO RGD:1321810 D RGD:6482776|PMID:17326817 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321810 D RGD:1581024|PMID:11807372 19990101 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:783 end stage renal disease ISO RGD:1321810 D RGD:7248787|PMID:16421163 20130820 RGD plasma:increased expression:plasma 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency ISO RGD:1321810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency PMID:10194471|PMID:10733466|PMID:16787988|PMID:25741868|PMID:28406212|PMID:8675689|PMID:9412624 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:6482780|PMID:15699277 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9001686 Acute Coronary Syndrome disease_progression ISO RGD:1321810 D RGD:6482773|PMID:22024276 20120502 RGD 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1321810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10733466 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9005372 Inflammation ISO RGD:1321810 D RGD:6482774|PMID:19886071 20120502 RGD associated with Cerebral Infarction;protein:increased expression:serum 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9005930 Endotoxemia IEP D RGD:7248791|PMID:10748027 20130820 RGD protein:increased expression: : 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9006332 Vascular Calcification ISO RGD:1321810 D RGD:6482770|PMID:22340269 20120502 RGD DNA:SNPs:cds, intron:multiple 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9006646 Metabolic Syndrome IEP D RGD:6482748|PMID:21172452 20120501 RGD mRNA:increased expression:liver 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:6482786|PMID:19644070 20120502 RGD protein:decreased expression:serum 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9008727 Ige Responsiveness, Atopic susceptibility ISO RGD:1321810 D RGD:7240710 20230517 OMIM 1310734 Pla2g7 phospholipase A2 group VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321810 D RGD:6482782|PMID:22399516 20120502 RGD 1310735 Trmt10b tRNA methyltransferase 10B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1310735 Trmt10b tRNA methyltransferase 10B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1310735 Trmt10b tRNA methyltransferase 10B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1310735 Trmt10b tRNA methyltransferase 10B gene DOID:630 genetic disease ISO RGD:1321812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310735 Trmt10b tRNA methyltransferase 10B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310735 Trmt10b tRNA methyltransferase 10B gene DOID:9870 galactosemia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:1588 thrombocytopenia ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10521306|PMID:20626622|PMID:21211618|PMID:21467542|PMID:23677566|PMID:24430186|PMID:25539746|PMID:25741868|PMID:25902755|PMID:26175287|PMID:26884589|PMID:28109976|PMID:28277066|PMID:28492532|PMID:28669401|PMID:30747248|PMID:31064749|PMID:32351539|PMID:32581362|PMID:32659145|PMID:34355501 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:2213 hemorrhagic disease ISO RGD:1314711 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:2218 blood platelet disease ISO RGD:1314711 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:23677566|PMID:25741868|PMID:31064749 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:630 genetic disease ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:7240710 20131030 OMIM 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10521306|PMID:17666371|PMID:20626622|PMID:21211618|PMID:23677566|PMID:24430186|PMID:25539746|PMID:25741868|PMID:25902755|PMID:26175287|PMID:26884589|PMID:28100250|PMID:28277066|PMID:28492532|PMID:29185836|PMID:29545013|PMID:30747248|PMID:31064749|PMID:32581362|PMID:32659145|PMID:34355501 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1314711 D RGD:9681743|PMID:21467542 20141205 RGD DNA:mutations:5'utr: 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9006084 Gigantism ISO RGD:1558016 D RGD:9681744|PMID:18162531 20141205 RGD 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9007692 Insulin Resistance ISO RGD:1558016 D RGD:9681744|PMID:18162531 20141205 RGD 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9970 obesity ISO RGD:1558016 D RGD:9681744|PMID:18162531 20141205 RGD 1310736 Ankrd26 ankyrin repeat domain containing 26 gene DOID:9970 obesity ISS RGD:1558016 D RGD:13592920 20180518 MouseDO OMIM:601665 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:7240710 20190315 OMIM 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:10652 Alzheimer's disease ISO RGD:1321815 D RGD:13792588|PMID:28474567 20181106 RGD 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:1826 epilepsy ISO RGD:1321815 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:630 genetic disease ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:83 cataract ISO RGD:1321815 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321815 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321815 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310737 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1310738 Rnf215 ring finger protein 215 gene DOID:630 genetic disease ISO RGD:1606686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310739 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1310739 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:1826 epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1310739 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310739 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:630 genetic disease ISO RGD:1321818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310740 Lipg lipase G, endothelial type gene DOID:1059 intellectual disability ISO RGD:1321819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310740 Lipg lipase G, endothelial type gene DOID:10763 hypertension IDA D RGD:1581875|PMID:15914124 20061028 RGD 1310740 Lipg lipase G, endothelial type gene DOID:1287 cardiovascular system disease ISO RGD:1321819 D RGD:1580864|PMID:16023652 19990101 RGD 1310740 Lipg lipase G, endothelial type gene DOID:2349 arteriosclerosis ISO RGD:1321820 D RGD:1581874|PMID:15304490 20061028 RGD 1310740 Lipg lipase G, endothelial type gene DOID:3393 coronary artery disease ISO RGD:1321819 D RGD:1580865|PMID:16354105 20061028 RGD 1310740 Lipg lipase G, endothelial type gene DOID:3526 cerebral infarction susceptibility ISO RGD:1321819 D RGD:1601237|PMID:17016617 20070822 RGD DNA:polymorphism: :584C>T (human) 1310740 Lipg lipase G, endothelial type gene DOID:5844 myocardial infarction susceptibility ISO RGD:1321819 D RGD:1641818|PMID:17526978 20070822 RGD DNA:polymorphism: :584C>T 1310740 Lipg lipase G, endothelial type gene DOID:630 genetic disease ISO RGD:1321819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310740 Lipg lipase G, endothelial type gene DOID:9006646 Metabolic Syndrome ISO RGD:1321819 D RGD:1580865|PMID:16354105 19990101 RGD 1310740 Lipg lipase G, endothelial type gene DOID:9970 obesity ISO RGD:1321819 D RGD:1641819|PMID:16772345 20070822 RGD protein:increased expression:plasma 1310741 Zswim5 zinc finger, SWIM-type containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310741 Zswim5 zinc finger, SWIM-type containing 5 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 1310741 Zswim5 zinc finger, SWIM-type containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1321821 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1310741 Zswim5 zinc finger, SWIM-type containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310741 Zswim5 zinc finger, SWIM-type containing 5 gene DOID:630 genetic disease ISO RGD:1321821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310741 Zswim5 zinc finger, SWIM-type containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321821 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1310742 Dact2 dishevelled-binding antagonist of beta-catenin 2 gene DOID:630 genetic disease ISO RGD:1321823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310742 Dact2 dishevelled-binding antagonist of beta-catenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1321823 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 1310743 Zfp618 zinc finger protein 618 gene DOID:630 genetic disease ISO RGD:1321825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310744 Stag1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:7240710 20190315 OMIM 1310744 Stag1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: STAG1-Related Disorders | ClinVar Annotator: match by term: STAG1-related disorder PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532|PMID:30158690 1310744 Stag1 STAG1 cohesin complex component gene DOID:1059 intellectual disability ISO RGD:1321827 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1310744 Stag1 STAG1 cohesin complex component gene DOID:1059 intellectual disability ISO RGD:1321827 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28119487 1310744 Stag1 STAG1 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:1321827 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1310744 Stag1 STAG1 cohesin complex component gene DOID:630 genetic disease ISO RGD:1321827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532 1310744 Stag1 STAG1 cohesin complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321827 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310744 Stag1 STAG1 cohesin complex component gene DOID:9008086 Developmental Disabilities ISO RGD:1321827 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741896 1310744 Stag1 STAG1 cohesin complex component gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321827 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1310745 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310745 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:10003 sensorineural hearing loss ISO RGD:1321829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1310745 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:1826 epilepsy ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1310745 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310745 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:630 genetic disease ISO RGD:1321829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310746 Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:0060417 3p deletion syndrome ISO RGD:1321831 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1310746 Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:630 genetic disease ISO RGD:1321831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310747 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310747 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1310747 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310747 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1321833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310747 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:7240710 20200805 OMIM 1310747 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome PMID:25741868|PMID:28492532|PMID:30824121 1310748 Hdac9 histone deacetylase 9 gene DOID:3525 middle cerebral artery infarction IEP D RGD:9681449|PMID:23480850 20141201 RGD mRNA:increased expression:brain: 1310748 Hdac9 histone deacetylase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353912 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310748 Hdac9 histone deacetylase 9 gene DOID:630 genetic disease ISO RGD:1353912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310748 Hdac9 histone deacetylase 9 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1353912 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 1310748 Hdac9 histone deacetylase 9 gene DOID:9007096 Stroke ISO RGD:1353912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22306652 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321836 D RGD:1580248|PMID:12939651 19990101 RGD DNA:missense mutation:cds:p.G160A (human) 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:630 genetic disease ISO RGD:1321836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1321836 D RGD:1579956|PMID:9568714 19990101 RGD human gene in a mouse model 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:9005968 Neuralgia treatment IEP D RGD:329337338|PMID:23386250 20230427 RGD 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1321836 D RGD:1579956|PMID:9568714 19990101 RGD human gene in a mouse model 1310749 Nfatc4 nuclear factor of activated T-cells 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321836 D RGD:11554173 20211109 CTD CTD Direct Evidence: therapeutic PMID:34192554 1310750 Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 gene DOID:10283 prostate cancer ISO RGD:1321838 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310750 Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 gene DOID:5419 schizophrenia ISO RGD:1321838 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1310750 Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 gene DOID:630 genetic disease ISO RGD:1321838 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30450763 1310750 Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310750 Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:7240710 20190315 OMIM 1310750 Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 PMID:25741868|PMID:28492532|PMID:28985353|PMID:30450763 1310751 Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1310751 Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:2843 long QT syndrome ISO RGD:1321839 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1310751 Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1321839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310753 Syndig1 synapse differentiation inducing 1 gene DOID:630 genetic disease ISO RGD:1321842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310755 Cxxc1 CXXC finger protein 1 gene DOID:1059 intellectual disability ISO RGD:1321844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310755 Cxxc1 CXXC finger protein 1 gene DOID:630 genetic disease ISO RGD:1321844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310757 Pus3 pseudouridine synthase 3 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1345902 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 1310757 Pus3 pseudouridine synthase 3 gene DOID:0060668 anencephaly ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 1310757 Pus3 pseudouridine synthase 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1310757 Pus3 pseudouridine synthase 3 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1345902 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 1310757 Pus3 pseudouridine synthase 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345902 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1310757 Pus3 pseudouridine synthase 3 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 1310757 Pus3 pseudouridine synthase 3 gene DOID:5419 schizophrenia ISO RGD:1345902 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310757 Pus3 pseudouridine synthase 3 gene DOID:630 genetic disease ISO RGD:1345902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310757 Pus3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:7240710 20190315 OMIM 1310757 Pus3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064 1310757 Pus3 pseudouridine synthase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345902 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310757 Pus3 pseudouridine synthase 3 gene DOID:9007661 Dwarfism ISO RGD:1345902 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310758 Ifi30 IFI30, lysosomal thiol reductase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1321848 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 1310758 Ifi30 IFI30, lysosomal thiol reductase gene DOID:3042 allergic contact dermatitis ISO RGD:1321848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 1310758 Ifi30 IFI30, lysosomal thiol reductase gene DOID:630 genetic disease ISO RGD:1321848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310758 Ifi30 IFI30, lysosomal thiol reductase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1321848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1310758 Ifi30 IFI30, lysosomal thiol reductase gene DOID:9119 acute myeloid leukemia ISO RGD:1321848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1310760 Asb1 ankyrin repeat and SOCS box-containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1310760 Asb1 ankyrin repeat and SOCS box-containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1310760 Asb1 ankyrin repeat and SOCS box-containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1310760 Asb1 ankyrin repeat and SOCS box-containing 1 gene DOID:1059 intellectual disability ISO RGD:1321850 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310760 Asb1 ankyrin repeat and SOCS box-containing 1 gene DOID:630 genetic disease ISO RGD:1321850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310760 Asb1 ankyrin repeat and SOCS box-containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1310761 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1310761 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1321852 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310761 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1321852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310761 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321852 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1310761 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1321852 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1310761 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321852 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310763 Endog endonuclease G gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310763 Endog endonuclease G gene DOID:11832 visual epilepsy IEP D RGD:9685392|PMID:20077427 20150106 RGD 1310763 Endog endonuclease G gene DOID:2316 brain ischemia IEP D RGD:9685367|PMID:18568342 20150105 RGD 1310763 Endog endonuclease G gene DOID:6000 congestive heart failure IEP D RGD:9685393|PMID:17292393 20150106 RGD mRNa:decreased expression:heart: 1310763 Endog endonuclease G gene DOID:630 genetic disease ISO RGD:1321856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310763 Endog endonuclease G gene DOID:767 muscular atrophy IEP D RGD:9685359|PMID:15650125 20150105 RGD 1310763 Endog endonuclease G gene DOID:9000039 Spinal Cord Injuries IEP D RGD:8655990|PMID:16689664 20150105 RGD 1310763 Endog endonuclease G gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:9685364|PMID:22509279 20150105 RGD protein:decreased expression:mitochondrion: 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1321858 D RGD:5490514|PMID:15917099 20110914 RGD DNA:polymorphism:promoter: -183 A>G (rs2297235)(human) 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1321858 D RGD:1358651|PMID:14570706 20110914 RGD DDNA:polymorphism: : -183 A>G (rs2297235)(human) 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:11054 urinary bladder cancer ISO RGD:1321858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:14330 Parkinson's disease onset ISO RGD:1321858 D RGD:1358651|PMID:14570706 20110914 RGD DDNA:polymorphism: : -183 A>G (rs2297235)(human) 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1321858 D RGD:5490299|PMID:17194543 20110913 RGD DNA:polymorphism: : -183 A>G (rs2297235)(human) 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:2841 asthma susceptibility ISO RGD:1321858 D RGD:5490988|PMID:20374258 20110922 RGD DNA:polymorphism:exon:p. N142D (human) 1310764 Gsto2 glutathione S-transferase omega 2 gene DOID:630 genetic disease ISO RGD:1321858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310765 Zfp688 zinc finger protein 688 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602068 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1310765 Zfp688 zinc finger protein 688 gene DOID:630 genetic disease ISO RGD:1602068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310766 Yipf7 Yip1 domain family, member 7 gene DOID:630 genetic disease ISO RGD:1604708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310767 Itprid2 ITPR interacting domain containing 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1321861 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 1310767 Itprid2 ITPR interacting domain containing 2 gene DOID:630 genetic disease ISO RGD:1321861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310768 Dsc1 desmocollin 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1321863 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 1310768 Dsc1 desmocollin 1 gene DOID:1059 intellectual disability ISO RGD:1321863 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310768 Dsc1 desmocollin 1 gene DOID:1909 melanoma ISO RGD:1321863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 1310768 Dsc1 desmocollin 1 gene DOID:630 genetic disease ISO RGD:1321863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310768 Dsc1 desmocollin 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1321863 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:decreased expression:gingival tissues (human) 1310769 Erg28 ergosterol biosynthesis 28 homolog gene DOID:1059 intellectual disability ISO RGD:1321865 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310770 Cachd1 cache domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605969 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1310770 Cachd1 cache domain containing 1 gene DOID:630 genetic disease ISO RGD:1605969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310771 Nrros negative regulator of reactive oxygen species gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1310771 Nrros negative regulator of reactive oxygen species gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 1310771 Nrros negative regulator of reactive oxygen species gene DOID:12849 autistic disorder ISO RGD:1602040 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310771 Nrros negative regulator of reactive oxygen species gene DOID:5419 schizophrenia ISO RGD:1602040 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310771 Nrros negative regulator of reactive oxygen species gene DOID:630 genetic disease ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310771 Nrros negative regulator of reactive oxygen species gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602040 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310771 Nrros negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:7240710 20200819 OMIM 1310771 Nrros negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868|PMID:28492532|PMID:32100099|PMID:32197075 1310772 Tgfbrap1 transforming growth factor, beta receptor associated protein 1 gene DOID:2843 long QT syndrome ISO RGD:1321869 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1310772 Tgfbrap1 transforming growth factor, beta receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1321869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310773 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:11372 megacolon ISO RGD:1344562 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310773 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:630 genetic disease ISO RGD:1344562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310773 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:670 amphetamine abuse ISO RGD:1344562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1310773 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1344562 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1310774 Guf1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:7240710 20190315 OMIM 1310774 Guf1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 PMID:25741868|PMID:26486472|PMID:28492532|PMID:30945278 1310774 Guf1 GTP binding elongation factor GUF1 gene DOID:2843 long QT syndrome ISO RGD:1602319 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1310774 Guf1 GTP binding elongation factor GUF1 gene DOID:630 genetic disease ISO RGD:1602319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310775 Tmem9b TMEM9 domain family, member B gene DOID:630 genetic disease ISO RGD:1321873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310776 Zfand5 zinc finger AN1-type containing 5 gene DOID:630 genetic disease ISO RGD:1349305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310776 Zfand5 zinc finger AN1-type containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1310778 Mis18a MIS18 kinetochore protein A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1310778 Mis18a MIS18 kinetochore protein A gene DOID:0060898 Parkinson's disease 20 ISO RGD:1321877 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1310778 Mis18a MIS18 kinetochore protein A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1310778 Mis18a MIS18 kinetochore protein A gene DOID:630 genetic disease ISO RGD:1321877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310778 Mis18a MIS18 kinetochore protein A gene DOID:9005698 ZTTK Syndrome ISO RGD:1321877 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1310780 Hoxb3 homeo box B3 gene DOID:630 genetic disease ISO RGD:1321880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310780 Hoxb3 homeo box B3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321880 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 1310780 Hoxb3 homeo box B3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1321880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321883 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:7240710 20200930 OMIM 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1826 epilepsy ISO RGD:1321883 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321883 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310782 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:630 genetic disease ISO RGD:1321883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310783 Cnot6 CCR4-NOT transcription complex, subunit 6 gene DOID:630 genetic disease ISO RGD:1347023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310784 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1321886 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310784 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1321886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310784 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:630 genetic disease ISO RGD:1321886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310784 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321886 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310785 Abt1 activator of basal transcription 1 gene DOID:630 genetic disease ISO RGD:1321888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310785 Abt1 activator of basal transcription 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1321888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310785 Abt1 activator of basal transcription 1 gene DOID:9000918 Disease Progression ISO RGD:1321888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1310786 Ano1 anoctamin 1 gene DOID:1059 intellectual disability ISO RGD:1321890 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310786 Ano1 anoctamin 1 gene DOID:630 genetic disease ISO RGD:1321890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310786 Ano1 anoctamin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310786 Ano1 anoctamin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310788 Hvcn1 hydrogen voltage-gated channel 1 gene DOID:0080600 COVID-19 ISO RGD:1603943 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310788 Hvcn1 hydrogen voltage-gated channel 1 gene DOID:3525 middle cerebral artery infarction IMP D RGD:14985213|PMID:31250553 20191009 RGD 1310788 Hvcn1 hydrogen voltage-gated channel 1 gene DOID:630 genetic disease ISO RGD:1603943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310789 Ankrd42 ankyrin repeat domain 42 gene DOID:1059 intellectual disability ISO RGD:1605233 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310789 Ankrd42 ankyrin repeat domain 42 gene DOID:630 genetic disease ISO RGD:1605233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310790 Plekhg4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:1604025 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:16001362|PMID:16614795|PMID:16780885 1310790 Plekhg4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310790 Plekhg4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:630 genetic disease ISO RGD:1604025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310791 Gtsf1 gametocyte specific factor 1 gene DOID:630 genetic disease ISO RGD:1605883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310792 Six2 SIX homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 1310792 Six2 SIX homeobox 2 gene DOID:0080205 CAKUT ISO RGD:1321897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687|PMID:28492532|PMID:32164334 1310792 Six2 SIX homeobox 2 gene DOID:0081044 frontonasal dysplasia ISO RGD:1321897 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 1310792 Six2 SIX homeobox 2 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:28492532|PMID:32796691 1310792 Six2 SIX homeobox 2 gene DOID:2154 nephroblastoma ISO RGD:1321897 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1310792 Six2 SIX homeobox 2 gene DOID:3883 Lynch syndrome ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1310792 Six2 SIX homeobox 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1321897 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 1310792 Six2 SIX homeobox 2 gene DOID:557 kidney disease ISO RGD:1321897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 1310792 Six2 SIX homeobox 2 gene DOID:630 genetic disease ISO RGD:1321897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310792 Six2 SIX homeobox 2 gene DOID:674 cleft palate ISS RGD:1321898 D RGD:13592920 20221124 MouseDO 1310792 Six2 SIX homeobox 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1321897 D RGD:155631310|PMID:33298161 20221101 RGD human cells in rat model 1310792 Six2 SIX homeobox 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1321898 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 1310793 Rras2 RAS related 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 1310793 Rras2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:7240710 20191030 OMIM 1310793 Rras2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 12 PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 1310793 Rras2 RAS related 2 gene DOID:1059 intellectual disability ISO RGD:1321899 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310793 Rras2 RAS related 2 gene DOID:3490 Noonan syndrome ISO RGD:1321899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 1310793 Rras2 RAS related 2 gene DOID:630 genetic disease ISO RGD:1321899 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285 1310793 Rras2 RAS related 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1321899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 1310793 Rras2 RAS related 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321899 D RGD:8554872 20200519 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:31130282|PMID:31130285|PMID:8052619 1310794 Rbm48 RNA binding motif protein 48 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1602202 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 1310794 Rbm48 RNA binding motif protein 48 gene DOID:12712 nephronophthisis ISO RGD:1602202 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 1310794 Rbm48 RNA binding motif protein 48 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602202 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310794 Rbm48 RNA binding motif protein 48 gene DOID:630 genetic disease ISO RGD:1602202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310794 Rbm48 RNA binding motif protein 48 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1602202 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 1310794 Rbm48 RNA binding motif protein 48 gene DOID:905 Zellweger syndrome ISO RGD:1602202 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 1310795 Kremen2 kringle containing transmembrane protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310795 Kremen2 kringle containing transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310795 Kremen2 kringle containing transmembrane protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310795 Kremen2 kringle containing transmembrane protein 2 gene DOID:3070 high grade glioma ISO RGD:1321902 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1310795 Kremen2 kringle containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1321902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310796 Plxnd1 plexin D1 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome PMID:28492532 1310796 Plxnd1 plexin D1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1310796 Plxnd1 plexin D1 gene DOID:11198 DiGeorge syndrome ISS RGD:1553585 D RGD:13592920 20180518 MouseDO OMIM:188400 1310796 Plxnd1 plexin D1 gene DOID:13501 Moebius syndrome ISO RGD:1321904 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 1310796 Plxnd1 plexin D1 gene DOID:224 transient cerebral ischemia ameliorates IMP D RGD:155663383|PMID:30653356 20221115 RGD 1310796 Plxnd1 plexin D1 gene DOID:630 genetic disease ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310796 Plxnd1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:7240710 20230505 OMIM 1310796 Plxnd1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 9 PMID:2194395|PMID:24254849|PMID:35396997|PMID:8042678 1310796 Plxnd1 plexin D1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1310796 Plxnd1 plexin D1 gene DOID:9270 alkaptonuria ISO RGD:1321904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1310796 Plxnd1 plexin D1 gene DOID:9775 diastolic heart failure ISO RGD:1321904 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1310798 Chst4 carbohydrate sulfotransferase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1321907 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310798 Chst4 carbohydrate sulfotransferase 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310798 Chst4 carbohydrate sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1321907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310799 Fam53b family with sequence similarity 53, member B gene DOID:630 genetic disease ISO RGD:1350576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310800 Pcif1 phosphorylated CTD interacting factor 1 gene DOID:2234 focal epilepsy ISO RGD:1321911 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1310800 Pcif1 phosphorylated CTD interacting factor 1 gene DOID:630 genetic disease ISO RGD:1321911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310800 Pcif1 phosphorylated CTD interacting factor 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1321911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606771 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606771 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1310801 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:630 genetic disease ISO RGD:1606771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310802 Gabpa GA binding protein transcription factor subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:1321915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:22491860|PMID:24691562|PMID:25741868|PMID:28492532 1310802 Gabpa GA binding protein transcription factor subunit alpha gene DOID:630 genetic disease ISO RGD:1321915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310802 Gabpa GA binding protein transcription factor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321915 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310803 Pnma8a PNMA family member 8A gene DOID:630 genetic disease ISO RGD:1605375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310804 Gprc5a G protein-coupled receptor, class C, group 5, member A gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1310804 Gprc5a G protein-coupled receptor, class C, group 5, member A gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1603705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1310804 Gprc5a G protein-coupled receptor, class C, group 5, member A gene DOID:630 genetic disease ISO RGD:1603705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310804 Gprc5a G protein-coupled receptor, class C, group 5, member A gene DOID:7148 rheumatoid arthritis ISO RGD:1603705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 1310805 Ebf2 EBF transcription factor 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1321920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 1310805 Ebf2 EBF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19700356 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:7240710 20130221 OMIM 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:11261516|PMID:11320193|PMID:14568819|PMID:16199547|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17576681|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19573432|PMID:19700356|PMID:19760748|PMID:19767224|PMID:19836982|PMID:19914430|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20652818|PMID:20924684|PMID:21055272|PMID:21114891|PMID:21228398|PMID:21835369|PMID:22447314|PMID:22560872|PMID:22642810|PMID:23241609|PMID:23580368|PMID:23591356|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25388550|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26253414|PMID:26270766|PMID:26283149|PMID:26287336|PMID:26464686|PMID:26467025|PMID:26563984|PMID:26658511|PMID:26825575|PMID:26979128|PMID:26990548|PMID:27252276|PMID:27383490|PMID:27751223|PMID:28151490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28454995|PMID:28481040|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29294253|PMID:29340559|PMID:29379858|PMID:29396438|PMID:29453417|PMID:29581464|PMID:29731766|PMID:30157807|PMID:30197982|PMID:30209273|PMID:30293248|PMID:30863077|PMID:31092259|PMID:31130284|PMID:31278756|PMID:31279840|PMID:31470807|PMID:31503356|PMID:31555752|PMID:31574870|PMID:31998365|PMID:32071835|PMID:32164588|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33411215|PMID:33473346|PMID:34215320|PMID:34356170|PMID:34389282|PMID:34445196|PMID:9536098 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1601765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:29396438|PMID:31279840 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601765 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1310806 Mmachc metabolism of cobalamin associated C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310806 Mmachc metabolism of cobalamin associated C gene DOID:14749 methylmalonic acidemia ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 1310806 Mmachc metabolism of cobalamin associated C gene DOID:630 genetic disease ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11261516|PMID:11320193|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:23932106|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25809485|PMID:26283149|PMID:26825575|PMID:26990548|PMID:28218226|PMID:28337550|PMID:28492532|PMID:28693988|PMID:30293248|PMID:31555752|PMID:32439973|PMID:34356170|PMID:34445196 1310806 Mmachc metabolism of cobalamin associated C gene DOID:655 inherited metabolic disorder ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:11261516|PMID:11320193|PMID:14568819|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20924684|PMID:21055272|PMID:22560872|PMID:22642810|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26283149|PMID:26467025|PMID:26563984|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28492532|PMID:28693988|PMID:29294253|PMID:29396438|PMID:30197982|PMID:30293248|PMID:31130284|PMID:31279840|PMID:31555752|PMID:32071835|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33473346|PMID:34356170|PMID:34445196 1310806 Mmachc metabolism of cobalamin associated C gene DOID:8501 fundus dystrophy ISO RGD:1601765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16311595|PMID:19370762|PMID:24210589|PMID:25398587|PMID:25741868|PMID:28492532|PMID:30197982|PMID:32071835|PMID:32481360|PMID:33473346 1310806 Mmachc metabolism of cobalamin associated C gene DOID:9263 homocystinuria ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11528500|PMID:16272259|PMID:23105016|PMID:25741868|PMID:28492532|PMID:30072743 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0050795 cone dystrophy ISO RGD:1321922 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1321922 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:11283794|PMID:11528500|PMID:12920076|PMID:16123401|PMID:16199547|PMID:16374347|PMID:17576681|PMID:20301475|PMID:21224891|PMID:21857984|PMID:22277662|PMID:23105016|PMID:25741868|PMID:27884173|PMID:28041643|PMID:28492532|PMID:30576320|PMID:32865313|PMID:9536098 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:7240710 20141015 OMIM 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17576681|PMID:17964524|PMID:18055816|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24516651|PMID:24997176|PMID:25097241|PMID:25412400|PMID:25445212|PMID:25741868|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26893459|PMID:27353947|PMID:27884173|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31736247|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32860008|PMID:32865313|PMID:33670832|PMID:9536098 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0111002 Joubert syndrome 7 ISO RGD:1321922 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:7240710 20130425 OMIM 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17525851|PMID:17576681|PMID:17964524|PMID:18055816|PMID:18682808|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22261762|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24997176|PMID:25097241|PMID:25326637|PMID:25412400|PMID:25445212|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26872967|PMID:26893459|PMID:26992781|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27884173|PMID:28041643|PMID:28157192|PMID:28378820|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29343940|PMID:29754767|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30902645|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32581362|PMID:32860008|PMID:32865313|PMID:33670832|PMID:9536098 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321922 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1321922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16272259 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1321922 D RGD:1599581|PMID:12920076 20070207 RGD 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11528500|PMID:23105016|PMID:25741868|PMID:28041643|PMID:28456785|PMID:28492532|PMID:29178642|PMID:31456290 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11283794|PMID:11528500 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321922 D RGD:1599580|PMID:11283794 20070207 RGD 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1321922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12920076 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11528500|PMID:15024725|PMID:23105016|PMID:25445212|PMID:25741868|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28714225|PMID:30072743|PMID:30576320 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:9000343 Vision Disorders ISO RGD:1321922 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:11528500|PMID:25741868 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321922 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1321922 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:24123792|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28492532|PMID:32581362 1310807 Rpgrip1 RPGR interacting protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:1321922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11283794 1310808 Hsf4 heat shock transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310808 Hsf4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:7240710 20130425 OMIM 1310808 Hsf4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:12089525|PMID:15959809|PMID:16199547|PMID:16876512|PMID:17576681|PMID:18941546|PMID:20421844|PMID:20670914|PMID:23329665|PMID:24045990|PMID:24637349|PMID:24975927|PMID:25741868|PMID:28492532|PMID:3233780|PMID:9536098 1310808 Hsf4 heat shock transcription factor 4 gene DOID:630 genetic disease ISO RGD:1321924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310808 Hsf4 heat shock transcription factor 4 gene DOID:83 cataract ISO RGD:1321924 D RGD:1599774|PMID:12089525 20070214 RGD autosomal dominant lamellar cataract, OMIM:116800 1310808 Hsf4 heat shock transcription factor 4 gene DOID:83 cataract ISO RGD:1321924 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 1310809 Lancl2 LanC like glutathione S-transferase 2 gene DOID:12849 autistic disorder ISO RGD:1321926 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310809 Lancl2 LanC like glutathione S-transferase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321926 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310809 Lancl2 LanC like glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1321926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310810 Pomk protein-O-mannose kinase gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1602085 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1310810 Pomk protein-O-mannose kinase gene DOID:0090039 torsion dystonia 6 ISO RGD:1602085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1310810 Pomk protein-O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:7240710 20140911 OMIM 1310810 Pomk protein-O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:17576681|PMID:23519211|PMID:24556084|PMID:24925318|PMID:25741868|PMID:27879205|PMID:28492532|PMID:29910097|PMID:30060766|PMID:32907597|PMID:9536098 1310810 Pomk protein-O-mannose kinase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:17033958|PMID:19479962|PMID:28492532 1310810 Pomk protein-O-mannose kinase gene DOID:0111959 immunodeficiency 15B ISO RGD:1602085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1310810 Pomk protein-O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:7240710 20171011 OMIM 1310810 Pomk protein-O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency PMID:24556084|PMID:24925318|PMID:25741868|PMID:28492532|PMID:29910097 1310810 Pomk protein-O-mannose kinase gene DOID:10908 hydrocephalus ISS RGD:1321928 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1310810 Pomk protein-O-mannose kinase gene DOID:630 genetic disease ISO RGD:1602085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310810 Pomk protein-O-mannose kinase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602085 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1310811 Aass aminoadipate-semialdehyde synthase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321929 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310811 Aass aminoadipate-semialdehyde synthase gene DOID:630 genetic disease ISO RGD:1321929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310811 Aass aminoadipate-semialdehyde synthase gene DOID:9002075 Saccharopinuria ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saccharopinuria PMID:25741868|PMID:28492532 1310811 Aass aminoadipate-semialdehyde synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321929 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1310811 Aass aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:7240710 20130221 OMIM 1310811 Aass aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperlysinemia PMID:10775527|PMID:23570448|PMID:23890588|PMID:25741868|PMID:28492532|PMID:934735 1310812 Pmvk phosphomevalonate kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1310812 Pmvk phosphomevalonate kinase gene DOID:0111940 immunodeficiency 42 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1310812 Pmvk phosphomevalonate kinase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1310812 Pmvk phosphomevalonate kinase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1310812 Pmvk phosphomevalonate kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1321931 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310812 Pmvk phosphomevalonate kinase gene DOID:3805 porokeratosis ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:25741868|PMID:30942823 1310812 Pmvk phosphomevalonate kinase gene DOID:5812 MHC class II deficiency ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1310812 Pmvk phosphomevalonate kinase gene DOID:630 genetic disease ISO RGD:1321931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310812 Pmvk phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:7240710 20171011 OMIM 1310812 Pmvk phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli PMID:25741868|PMID:26202976|PMID:30942823 1310812 Pmvk phosphomevalonate kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321931 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310813 Tchp trichoplein, keratin filament binding gene DOID:630 genetic disease ISO RGD:1604269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310815 Klhl25 kelch-like family member 25 gene DOID:2717 Bloom syndrome ISO RGD:1605054 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310815 Klhl25 kelch-like family member 25 gene DOID:630 genetic disease ISO RGD:1605054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310815 Klhl25 kelch-like family member 25 gene DOID:9256 colorectal cancer ISO RGD:1605054 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:7240710 20170222 OMIM 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:25741868|PMID:26046368|PMID:26119737|PMID:28492532 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:1540 parathyroid carcinoma ISO RGD:1606013 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:684 hepatocellular carcinoma ISO RGD:1606013 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:9002265 Kidney Neoplasms ISO RGD:1606013 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310816 Ube2t ubiquitin-conjugating enzyme E2T gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606013 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310817 Gpr132 G protein-coupled receptor 132 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1310817 Gpr132 G protein-coupled receptor 132 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1310817 Gpr132 G protein-coupled receptor 132 gene DOID:417 autoimmune disease ISS RGD:1321938 D RGD:13592920 20180518 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 1310817 Gpr132 G protein-coupled receptor 132 gene DOID:630 genetic disease ISO RGD:1321937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310819 Cracdl CRACD like gene DOID:630 genetic disease ISO RGD:1602270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:1321941 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:12712 nephronophthisis ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1321941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1321941 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310820 Col15a1 collagen type XV alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321941 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1310821 Dolk dolichol kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310821 Dolk dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:7240710 20190315 OMIM 1310821 Dolk dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation PMID:17273964|PMID:22242004|PMID:23806237|PMID:23890587|PMID:24033266|PMID:24144945|PMID:25188385|PMID:25741868|PMID:25819062|PMID:26257771|PMID:26633542|PMID:27212206|PMID:28074886|PMID:28492532|PMID:28816422|PMID:28818208|PMID:28820871|PMID:30653653|PMID:30775854|PMID:31983221|PMID:32250540|PMID:34956305 1310821 Dolk dolichol kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1321943 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 1310821 Dolk dolichol kinase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321943 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1310821 Dolk dolichol kinase gene DOID:630 genetic disease ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310822 Cttnbp2nl CTTNBP2 N-terminal like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1310822 Cttnbp2nl CTTNBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1607020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310822 Cttnbp2nl CTTNBP2 N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310823 Recql5 RecQ like helicase 5 gene DOID:2661 myoepithelioma ISO RGD:1321946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1310823 Recql5 RecQ like helicase 5 gene DOID:630 genetic disease ISO RGD:1321946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310824 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1321949 D RGD:13592920 20190516 MouseDO 1310824 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1321948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 1310824 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:630 genetic disease ISO RGD:1321948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310824 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321948 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1310824 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:12447384|PMID:18579681|PMID:28492532 1310825 Pgbd5 piggyBac transposable element derived 5 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1310825 Pgbd5 piggyBac transposable element derived 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1321950 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310825 Pgbd5 piggyBac transposable element derived 5 gene DOID:3672 rhabdoid cancer ISO RGD:1321950 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 1310825 Pgbd5 piggyBac transposable element derived 5 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1310825 Pgbd5 piggyBac transposable element derived 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1321950 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 1310825 Pgbd5 piggyBac transposable element derived 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321950 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310826 Actr2 actin related protein 2 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1321952 D RGD:11570560|PMID:14990971 20161220 RGD protein:increased expression:colonic mucosa (human) 1310826 Actr2 actin related protein 2 gene DOID:630 genetic disease ISO RGD:1321952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310826 Actr2 actin related protein 2 gene DOID:9000998 Brain Injuries IEP D RGD:11530046|PMID:22120305 20160822 RGD mRNA, protein:decreased expression:hippocampus (rat) 1310826 Actr2 actin related protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:11530057|PMID:19617259 20160823 RGD mRNA, protein:increased expression:cortex of kidney (rat) 1310827 Tril TLR4 interactor with leucine-rich repeats gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:4143834 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310827 Tril TLR4 interactor with leucine-rich repeats gene DOID:630 genetic disease ISO RGD:4143834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310828 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1606992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1310828 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1606992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310829 Cyb561d1 cytochrome b561 family, member D1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1321956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1310829 Cyb561d1 cytochrome b561 family, member D1 gene DOID:12849 autistic disorder ISO RGD:1321956 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310829 Cyb561d1 cytochrome b561 family, member D1 gene DOID:630 genetic disease ISO RGD:1321956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310831 Trpt1 tRNA phosphotransferase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1310831 Trpt1 tRNA phosphotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1349455 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310831 Trpt1 tRNA phosphotransferase 1 gene DOID:3070 high grade glioma ISO RGD:1349455 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1310831 Trpt1 tRNA phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310833 Riok3 RIO kinase 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1310833 Riok3 RIO kinase 3 gene DOID:1059 intellectual disability ISO RGD:1321961 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310833 Riok3 RIO kinase 3 gene DOID:630 genetic disease ISO RGD:1321961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310834 Nfkbiz NFKB inhibitor zeta gene DOID:0050426 Stevens-Johnson syndrome ISS RGD:1553089 D RGD:13592920 20180518 MouseDO 1310834 Nfkbiz NFKB inhibitor zeta gene DOID:3310 atopic dermatitis ISS RGD:1553089 D RGD:13592920 20180518 MouseDO OMIM:603165 1310834 Nfkbiz NFKB inhibitor zeta gene DOID:630 genetic disease ISO RGD:1350232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310834 Nfkbiz NFKB inhibitor zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310835 Uspl1 ubiquitin specific peptidase like 1 gene DOID:630 genetic disease ISO RGD:1321964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321966 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321966 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:630 genetic disease ISO RGD:1321966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 1310836 Ptges2 prostaglandin E synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321966 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31444509 1310838 Pds5b PDS5 cohesin associated factor B gene DOID:630 genetic disease ISO RGD:1321969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310840 Tagln2 transgelin 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1310840 Tagln2 transgelin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321972 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310840 Tagln2 transgelin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1321972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1310840 Tagln2 transgelin 2 gene DOID:5082 liver cirrhosis ISO RGD:1321972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1310840 Tagln2 transgelin 2 gene DOID:630 genetic disease ISO RGD:1321972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310840 Tagln2 transgelin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1321972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1310840 Tagln2 transgelin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310840 Tagln2 transgelin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1310840 Tagln2 transgelin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321972 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:0110266 cataract 9 multiple types ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:630 genetic disease ISO RGD:1321974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321974 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:9263 homocystinuria ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1310841 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321976 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1321976 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:7240710 20160113 OMIM 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z PMID:12601114|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809|PMID:9536098 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1321976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:28492532 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1321976 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28581500 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12601114|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12601114|PMID:25741868|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:7964809 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12601114|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:7964809|PMID:9536098 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:7240710 20210217 OMIM 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868|PMID:26497905|PMID:28135719|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28135719|PMID:28492532|PMID:31618753|PMID:31785789|PMID:32693025 1310842 Morc2 MORC family CW-type zinc finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:0050439 Usher syndrome ISO RGD:1321979 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321979 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1321979 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:4989 pancreatitis IEP D RGD:2301725|PMID:11027531 20081030 RGD mRNA:increased expression:pancreas 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:630 genetic disease ISO RGD:1321979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1321980 D RGD:7775013|PMID:15306813 20131230 RGD 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:9005372 Inflammation ISO RGD:1321979 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17151092 1310844 Dusp10 dual specificity phosphatase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321979 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310845 Efr3b EFR3 homolog B gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1310845 Efr3b EFR3 homolog B gene DOID:630 genetic disease ISO RGD:1602224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310846 Slc26a7 solute carrier family 26 member 7 gene DOID:0050328 congenital hypothyroidism ISO RGD:1321983 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:31372509 1310846 Slc26a7 solute carrier family 26 member 7 gene DOID:0050328 congenital hypothyroidism ISS RGD:1321984 D RGD:13592920 20220630 MouseDO 1310846 Slc26a7 solute carrier family 26 member 7 gene DOID:5419 schizophrenia ISO RGD:1321983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1310846 Slc26a7 solute carrier family 26 member 7 gene DOID:630 genetic disease ISO RGD:1321983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310847 Bag5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:7240710 20220223 OMIM 1310847 Bag5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F PMID:35044787 1310847 Bag5 BAG cochaperone 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1310847 Bag5 BAG cochaperone 5 gene DOID:14330 Parkinson's disease ISO RGD:1321985 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28348719 1310847 Bag5 BAG cochaperone 5 gene DOID:630 genetic disease ISO RGD:1321985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310847 Bag5 BAG cochaperone 5 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1310848 Gpr22 G protein-coupled receptor 22 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:28492532 1310848 Gpr22 G protein-coupled receptor 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321987 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310848 Gpr22 G protein-coupled receptor 22 gene DOID:630 genetic disease ISO RGD:1321987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310849 Ipo7 importin 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1310849 Ipo7 importin 7 gene DOID:630 genetic disease ISO RGD:1321989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310850 Asb18 ankyrin repeat and SOCS box-containing 18 gene DOID:630 genetic disease ISO RGD:1602398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310850 Asb18 ankyrin repeat and SOCS box-containing 18 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1310852 RGD1310852 similar to RIKEN cDNA 9130401M01 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602854 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1310852 RGD1310852 similar to RIKEN cDNA 9130401M01 gene DOID:630 genetic disease ISO RGD:1602854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310853 Phf11 PHD finger protein 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321995 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1310853 Phf11 PHD finger protein 11 gene DOID:1059 intellectual disability ISO RGD:1321995 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310853 Phf11 PHD finger protein 11 gene DOID:630 genetic disease ISO RGD:1321995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:35315959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:35315959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:35315959 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:35315959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:0111621 Temtamy syndrome ISO RGD:35315959 D RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:35315959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310854 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:35315959 D RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1310855 Esrp2 epithelial splicing regulatory protein 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310855 Esrp2 epithelial splicing regulatory protein 2 gene DOID:0080600 COVID-19 ISO RGD:1605047 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310855 Esrp2 epithelial splicing regulatory protein 2 gene DOID:630 genetic disease ISO RGD:1605047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310855 Esrp2 epithelial splicing regulatory protein 2 gene DOID:9296 cleft lip ISO RGD:1605047 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 1310856 Zfyve9 zinc finger FYVE-type containing 9 gene DOID:630 genetic disease ISO RGD:1321999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310857 Coq5 coenzyme Q5, methyltransferase gene DOID:0080600 COVID-19 ISO RGD:1604266 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310857 Coq5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:7240710 20200930 OMIM 1310857 Coq5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 PMID:29044765 1310857 Coq5 coenzyme Q5, methyltransferase gene DOID:1059 intellectual disability ISO RGD:1604266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1310857 Coq5 coenzyme Q5, methyltransferase gene DOID:630 genetic disease ISO RGD:1604266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310858 Grsf1 G-rich RNA sequence binding factor 1 gene DOID:630 genetic disease ISO RGD:1322002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310858 Grsf1 G-rich RNA sequence binding factor 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1322002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310859 Ushbp1 USH1 protein network component harmonin binding protein 1 gene DOID:630 genetic disease ISO RGD:1322004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310861 Fam216a family with sequence similarity 216, member A gene DOID:630 genetic disease ISO RGD:1607038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310862 Crebrf CREB3 regulatory factor gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 1310862 Crebrf CREB3 regulatory factor gene DOID:630 genetic disease ISO RGD:1603892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310862 Crebrf CREB3 regulatory factor gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 1310863 Slc39a3 solute carrier family 39 member 3 gene DOID:630 genetic disease ISO RGD:1322010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310863 Slc39a3 solute carrier family 39 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322010 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310864 Lyve1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:630 genetic disease ISO RGD:1322012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310864 Lyve1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322012 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310865 Krt7 keratin 7 gene DOID:12236 primary biliary cholangitis ISO RGD:1322014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21681009 1310865 Krt7 keratin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322015 D RGD:30310231|PMID:23919993 20200624 RGD protein:increased expression:lung (mouse) 1310865 Krt7 keratin 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1322014 D RGD:2317307|PMID:19260470 20100326 RGD 1310865 Krt7 keratin 7 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1322014 D RGD:151665759|PMID:29788741 20220331 RGD 1310865 Krt7 keratin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1322014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329|PMID:16927643 1310865 Krt7 keratin 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1322014 D RGD:2317308|PMID:18393293 20100326 RGD 1310865 Krt7 keratin 7 gene DOID:5389 oxyphilic adenoma ISO RGD:1322014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 1310865 Krt7 keratin 7 gene DOID:630 genetic disease ISO RGD:1322014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310865 Krt7 keratin 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921857 1310865 Krt7 keratin 7 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2317439|PMID:8570173 20100405 RGD 1310865 Krt7 keratin 7 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1322014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 1310865 Krt7 keratin 7 gene DOID:9008510 Chronic Hepatitis ISO RGD:1322014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 1310866 Bpifb2 BPI fold containing family B, member 2 gene DOID:630 genetic disease ISO RGD:1322016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310867 Pitpnm2 phosphatidylinositol transfer protein, membrane-associated 2 gene DOID:630 genetic disease ISO RGD:1322017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310868 Engase endo-beta-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1601977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310868 Engase endo-beta-N-acetylglucosaminidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1601977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1310869 Mall mal, T-cell differentiation protein-like gene DOID:0050795 cone dystrophy ISO RGD:1342796 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 1310869 Mall mal, T-cell differentiation protein-like gene DOID:0060041 autism spectrum disorder ISO RGD:1342796 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 1310869 Mall mal, T-cell differentiation protein-like gene DOID:0110999 Joubert syndrome 4 ISO RGD:1342796 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868 1310869 Mall mal, T-cell differentiation protein-like gene DOID:0111112 nephronophthisis 1 ISO RGD:1342796 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 1310869 Mall mal, T-cell differentiation protein-like gene DOID:12712 nephronophthisis ISO RGD:1342796 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:15138899|PMID:24746959|PMID:28492532|PMID:8852662 1310869 Mall mal, T-cell differentiation protein-like gene DOID:630 genetic disease ISO RGD:1342796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310870 Tmem41b transmembrane protein 41B gene DOID:630 genetic disease ISO RGD:1347999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0080690 RASopathy ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:1059 intellectual disability ISO RGD:1604778 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:630 genetic disease ISO RGD:1604778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604778 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310872 Tmprss13 transmembrane serine protease 13 gene DOID:9007661 Dwarfism ISO RGD:1604778 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310873 Rasl10b RAS-like, family 10, member B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1322024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1310873 Rasl10b RAS-like, family 10, member B gene DOID:11612 polycystic ovary syndrome ISO RGD:1322024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1310873 Rasl10b RAS-like, family 10, member B gene DOID:630 genetic disease ISO RGD:1322024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:1909 melanoma ISO RGD:1322026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:3565 meningioma ISO RGD:1322026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804547 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:4450 renal cell carcinoma ISO RGD:1322026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:630 genetic disease ISO RGD:1322026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:8864 acute monocytic leukemia ISO RGD:1322026 D RGD:1598771|PMID:7662954 20061219 RGD 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:7240710 20190315 OMIM 1310874 Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 1310875 Trabd TraB domain containing gene DOID:0060041 autism spectrum disorder ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1310875 Trabd TraB domain containing gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601961 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1310875 Trabd TraB domain containing gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601961 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1310875 Trabd TraB domain containing gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601961 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1310875 Trabd TraB domain containing gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1310875 Trabd TraB domain containing gene DOID:1059 intellectual disability ISO RGD:1601961 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310875 Trabd TraB domain containing gene DOID:630 genetic disease ISO RGD:1601961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310877 Saysd1 SAYSVFN motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1322030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310879 Mthfd2l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like gene DOID:630 genetic disease ISO RGD:1345478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310879 Mthfd2l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1310880 Prss22 serine protease 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310880 Prss22 serine protease 22 gene DOID:10283 prostate cancer ISO RGD:1322033 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310880 Prss22 serine protease 22 gene DOID:1826 epilepsy ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310880 Prss22 serine protease 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322033 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310880 Prss22 serine protease 22 gene DOID:630 genetic disease ISO RGD:1322033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310881 Terf2 telomeric repeat binding factor 2 gene DOID:0050427 xeroderma pigmentosum ISS RGD:1322036 D RGD:13592920 20190221 MouseDO 1310881 Terf2 telomeric repeat binding factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1322035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17643074 1310881 Terf2 telomeric repeat binding factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1310881 Terf2 telomeric repeat binding factor 2 gene DOID:630 genetic disease ISO RGD:1322035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310883 Fpr1 formyl peptide receptor 1 gene DOID:10283 prostate cancer ISO RGD:1322039 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310883 Fpr1 formyl peptide receptor 1 gene DOID:1483 gingival disease ISO RGD:1322039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gingival disorder PMID:17927965|PMID:24033266|PMID:28492532|PMID:31534221 1310883 Fpr1 formyl peptide receptor 1 gene DOID:3482 plague ISO RGD:1322039 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM PMID:28492532|PMID:31534221 1310883 Fpr1 formyl peptide receptor 1 gene DOID:630 genetic disease ISO RGD:1322039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310883 Fpr1 formyl peptide receptor 1 gene DOID:824 periodontitis ISO RGD:1322039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Periodontitis PMID:28492532 1310884 Barx1 BARX homeobox 1 gene DOID:12642 hiatus hernia ISO RGD:1322041 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 1310884 Barx1 BARX homeobox 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322041 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 1310884 Barx1 BARX homeobox 1 gene DOID:630 genetic disease ISO RGD:1322041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1322043 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:7240710 20140911 OMIM 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:21722859|PMID:25741868 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:12858 Huntington's disease ISO RGD:1322043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:2316 brain ischemia ISO RGD:1322043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322043 D RGD:13434909|PMID:16231180 20171004 RGD mRNA:increased expression:lung 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:630 genetic disease ISO RGD:1322043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322043 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17718901 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:9004538 Hearing Loss ISO RGD:1322043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1322043 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 1310885 Diablo diablo, IAP-binding mitochondrial protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1322043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 1310886 Zfat zinc finger and AT hook domain containing gene DOID:630 genetic disease ISO RGD:1322045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310886 Zfat zinc finger and AT hook domain containing gene DOID:7188 autoimmune thyroiditis ISO RGD:1322045 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310886 Zfat zinc finger and AT hook domain containing gene DOID:7188 autoimmune thyroiditis ISO RGD:1322045 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:11440990|PMID:15294872|PMID:25741868|PMID:28940097 1310886 Zfat zinc finger and AT hook domain containing gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:1322045 D RGD:7240710 20190502 OMIM 1310887 Miga2 mitoguardin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1310887 Miga2 mitoguardin 2 gene DOID:630 genetic disease ISO RGD:1322047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310888 Aggf1 angiogenic factor with G patch and FHA domains 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1350142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 1310888 Aggf1 angiogenic factor with G patch and FHA domains 1 gene DOID:11193 syndactyly ISO RGD:1350142 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 1310888 Aggf1 angiogenic factor with G patch and FHA domains 1 gene DOID:630 genetic disease ISO RGD:1350142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310888 Aggf1 angiogenic factor with G patch and FHA domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350142 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310889 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1310889 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322050 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 1310889 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:630 genetic disease ISO RGD:1322050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310889 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322050 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1310889 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322050 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310890 Ptgir prostaglandin I2 receptor gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1322052 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 1310890 Ptgir prostaglandin I2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1322052 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 1310890 Ptgir prostaglandin I2 receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 1310890 Ptgir prostaglandin I2 receptor gene DOID:114 heart disease ISO RGD:1322052 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16154102 1310890 Ptgir prostaglandin I2 receptor gene DOID:630 genetic disease ISO RGD:1322052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310891 Man1a1 mannosidase, alpha, class 1A, member 1 gene DOID:1059 intellectual disability ISO RGD:1322054 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1310891 Man1a1 mannosidase, alpha, class 1A, member 1 gene DOID:10907 microcephaly ISO RGD:1322054 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1310891 Man1a1 mannosidase, alpha, class 1A, member 1 gene DOID:1826 epilepsy ISO RGD:1322054 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1310891 Man1a1 mannosidase, alpha, class 1A, member 1 gene DOID:630 genetic disease ISO RGD:1322054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310891 Man1a1 mannosidase, alpha, class 1A, member 1 gene DOID:9000495 Tremor ISO RGD:1322054 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1322057 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:12712 nephronophthisis ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:630 genetic disease ISO RGD:1322057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310893 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1322057 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1310894 Narf nuclear prelamin A recognition factor gene DOID:630 genetic disease ISO RGD:1605690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310895 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1322060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310895 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1322060 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1310895 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1322060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310895 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322060 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310896 Trim6 tripartite motif containing 6 gene DOID:630 genetic disease ISO RGD:1316640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310897 Pmm1 phosphomannomutase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1310897 Pmm1 phosphomannomutase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322064 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1310897 Pmm1 phosphomannomutase 1 gene DOID:630 genetic disease ISO RGD:1322064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310898 Scml4 Scm polycomb group protein like 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1310898 Scml4 Scm polycomb group protein like 4 gene DOID:630 genetic disease ISO RGD:1322066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310899 Fcf1 Fcf1 rRNA-processing protein gene DOID:1059 intellectual disability ISO RGD:1322068 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1310899 Fcf1 Fcf1 rRNA-processing protein gene DOID:630 genetic disease ISO RGD:1322068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310900 Mtpap mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:7240710 20130221 OMIM 1310900 Mtpap mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia 4 PMID:20970105|PMID:24651433|PMID:25008111|PMID:25741868|PMID:26319014|PMID:26467025|PMID:28492532|PMID:31779033 1310900 Mtpap mitochondrial poly(A) polymerase gene DOID:0050952 spastic ataxia ISO RGD:1322070 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1310900 Mtpap mitochondrial poly(A) polymerase gene DOID:1909 melanoma ISO RGD:1322070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1310900 Mtpap mitochondrial poly(A) polymerase gene DOID:630 genetic disease ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310901 Dpp8 dipeptidylpeptidase 8 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1322072 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1310901 Dpp8 dipeptidylpeptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1322072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310901 Dpp8 dipeptidylpeptidase 8 gene DOID:630 genetic disease ISO RGD:1322072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310901 Dpp8 dipeptidylpeptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1322072 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1310902 Nudt12 nudix hydrolase 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310902 Nudt12 nudix hydrolase 12 gene DOID:630 genetic disease ISO RGD:1322074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310902 Nudt12 nudix hydrolase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322074 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310902 Nudt12 nudix hydrolase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310903 Plcd3 phospholipase C, delta 3 gene DOID:630 genetic disease ISO RGD:1322076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310904 Rreb1 ras responsive element binding protein 1 gene DOID:0080690 RASopathy ISS RGD:1553608 D RGD:13592920 20221006 MouseDO 1310904 Rreb1 ras responsive element binding protein 1 gene DOID:10907 microcephaly ISO RGD:1322078 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1310904 Rreb1 ras responsive element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1322078 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310904 Rreb1 ras responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:1322078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310905 Emc4 ER membrane protein complex subunit 4 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1605682 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 1310905 Emc4 ER membrane protein complex subunit 4 gene DOID:2717 Bloom syndrome ISO RGD:1605682 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310905 Emc4 ER membrane protein complex subunit 4 gene DOID:630 genetic disease ISO RGD:1605682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310905 Emc4 ER membrane protein complex subunit 4 gene DOID:9256 colorectal cancer ISO RGD:1605682 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322081 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:24477737 1310906 Tardbp TAR DNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:7240710 20130425 OMIM 1310906 Tardbp TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18396105|PMID:18438952|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19228676|PMID:19236453|PMID:19350673|PMID:19411082|PMID:19429692|PMID:19465477|PMID:19515851|PMID:19609911|PMID:19618195|PMID:19655382|PMID:19695877|PMID:19714537|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19833869|PMID:19864663|PMID:19864664|PMID:19959528|PMID:20031275|PMID:20082726|PMID:20154440|PMID:20301761|PMID:20472325|PMID:20555136|PMID:20558945|PMID:20577002|PMID:20600671|PMID:20624952|PMID:20645878|PMID:20675015|PMID:20697052|PMID:20708823|PMID:20806063|PMID:20959352|PMID:21123567|PMID:21173160|PMID:21220647|PMID:21403029|PMID:21438137|PMID:21651514|PMID:21666678|PMID:21752789|PMID:21829392|PMID:21830990|PMID:21857683|PMID:21943958|PMID:22121224|PMID:22406069|PMID:22456481|PMID:22539580|PMID:22563080|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23231971|PMID:23235148|PMID:23327806|PMID:23345247|PMID:23356346|PMID:23401527|PMID:23457265|PMID:23692129|PMID:23721326|PMID:23827948|PMID:23881933|PMID:24117534|PMID:24143176|PMID:24237396|PMID:24440310|PMID:24477737|PMID:24507191|PMID:25090004|PMID:25138285|PMID:25375143|PMID:25382069|PMID:25408367|PMID:25442115|PMID:25588603|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25913742|PMID:26096467|PMID:26467025|PMID:26581115|PMID:26777436|PMID:26883171|PMID:27348499|PMID:27570075|PMID:28089114|PMID:28286471|PMID:28334913|PMID:28335005|PMID:28430856|PMID:28444446|PMID:28487370|PMID:28492532|PMID:28573484|PMID:28709720|PMID:28889094|PMID:29091718|PMID:29411640|PMID:29419416|PMID:29525180|PMID:29621978|PMID:29630989|PMID:29650794|PMID:29801890|PMID:29895397|PMID:30324134|PMID:30442180|PMID:30461104|PMID:30553531|PMID:30586030|PMID:30773994|PMID:31124595|PMID:31852254|PMID:31996268|PMID:32166880|PMID:32253937|PMID:32409511|PMID:32579787|PMID:32843152|PMID:32951934|PMID:33159016|PMID:33301444|PMID:33479441|PMID:33589474|PMID:33770234|PMID:34162492 1310906 Tardbp TAR DNA binding protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1310906 Tardbp TAR DNA binding protein gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISS RGD:1617357 D RGD:13592920 20180518 MouseDO OMIM:607485 1310906 Tardbp TAR DNA binding protein gene DOID:0111936 immunodeficiency 14 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1322081 D RGD:5687139|PMID:21376022 20120201 RGD protein:increased expression, phosphorylation:motor cortex 1310906 Tardbp TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1617357 D RGD:5687178|PMID:21070634 20120203 RGD protein:increased expression:brain 1310906 Tardbp TAR DNA binding protein gene DOID:11870 Pick's disease ISO RGD:1322081 D RGD:5687194|PMID:18091558 20120206 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:12217 Lewy body dementia ISO RGD:1322081 D RGD:5687180|PMID:20669025 20120203 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1322081 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33479441 1310906 Tardbp TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:5687172|PMID:21667065 20120202 RGD DNA:mutation:cds:p.A382T (human) 1310906 Tardbp TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:5687183|PMID:20551689 20120203 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:231 motor neuron disease ISO RGD:1322081 D RGD:5687193|PMID:18288693 20120206 RGD DNA:missense mutation:cds:p.A315T(human) 1310906 Tardbp TAR DNA binding protein gene DOID:231 motor neuron disease ISO RGD:1322081 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:18372902|PMID:18931000|PMID:19224587|PMID:19760257|PMID:23881933|PMID:25442115|PMID:25741868|PMID:28089114|PMID:28430856|PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:18372902|PMID:21167262|PMID:22879928|PMID:23104007|PMID:23891805|PMID:24019256|PMID:24252504|PMID:26980269|PMID:28122516|PMID:28478440|PMID:29419416|PMID:30157956 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:5687134|PMID:21752789 20120201 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:5687157|PMID:18309045 20120202 RGD DNA:mutation:cds:p.M337V(human) 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:5687158|PMID:17023659 20120202 RGD protein:increased phosphorylation:brain 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:5687173|PMID:21651514 20120202 RGD DNA:mutation:cds:p.G295S(human) 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:5687192|PMID:18372902 20120206 RGD DNA:missense mutations:cds: 1310906 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1322081 D RGD:5687137|PMID:21998667 20120201 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:630 genetic disease ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19236453|PMID:19411082|PMID:19515851|PMID:19695877|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19864663|PMID:20082726|PMID:20555136|PMID:20645878|PMID:20675015|PMID:20708823|PMID:21120508|PMID:21173160|PMID:22121224|PMID:22456481|PMID:22539580|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23327806|PMID:24143176|PMID:24325798|PMID:25375143|PMID:25442115|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:29091718|PMID:31996268|PMID:33589474|PMID:34162492 1310906 Tardbp TAR DNA binding protein gene DOID:678 progressive supranuclear palsy ISO RGD:1322081 D RGD:5687185|PMID:20512649 20120203 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:9000998 Brain Injuries ISO RGD:1322081 D RGD:5687195|PMID:22101322 20120206 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:24019256|PMID:24252504|PMID:24477737|PMID:26980269 1310906 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:5687136|PMID:22177996 20120201 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:5687158|PMID:17023659 20120202 RGD protein:increased phosphorylation:brain 1310906 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:5687172|PMID:21667065 20120202 RGD DNA:mutation:cds:p.A382T (human) 1310906 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1617357 D RGD:5687159|PMID:20660618 20120202 RGD 1310906 Tardbp TAR DNA binding protein gene DOID:9002347 MASP2 Deficiency ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:24033266|PMID:25741868|PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322081 D RGD:5687171|PMID:21865887 20120202 RGD protein:increased phosphorylation:neocortex 1310906 Tardbp TAR DNA binding protein gene DOID:9005179 Chronic Brain Injury ISO RGD:1322081 D RGD:5687179|PMID:20720505 20120203 RGD protein:increased expression:brain 1310906 Tardbp TAR DNA binding protein gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1322081 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1322081 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 1310906 Tardbp TAR DNA binding protein gene DOID:9255 frontotemporal dementia ISS RGD:1617357 D RGD:13592920 20180719 MouseDO OMIM:600274 | OMIM:600795 1310907 Tlk2 tousled-like kinase 2 gene DOID:1059 intellectual disability ISO RGD:1322082 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31558842 1310907 Tlk2 tousled-like kinase 2 gene DOID:12849 autistic disorder ISO RGD:1322082 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 1310907 Tlk2 tousled-like kinase 2 gene DOID:630 genetic disease ISO RGD:1322082 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310907 Tlk2 tousled-like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322082 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310907 Tlk2 tousled-like kinase 2 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1322082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868 1310907 Tlk2 tousled-like kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1322082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1310907 Tlk2 tousled-like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:7240710 20190315 OMIM 1310907 Tlk2 tousled-like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 57 | ClinVar Annotator: match by term: TLK2-related neurodevelopmental disorder PMID:25741868|PMID:25741869|PMID:27479843|PMID:28492532|PMID:29861108|PMID:34821460 1310908 Nt5c1a 5'-nucleotidase, cytosolic IA gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322084 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1310908 Nt5c1a 5'-nucleotidase, cytosolic IA gene DOID:630 genetic disease ISO RGD:1322084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310910 Sema6d semaphorin 6D gene DOID:14323 Marfan syndrome ISO RGD:1605040 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 1310910 Sema6d semaphorin 6D gene DOID:2717 Bloom syndrome ISO RGD:1605040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310910 Sema6d semaphorin 6D gene DOID:303 substance-related disorder ISO RGD:1605040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1310910 Sema6d semaphorin 6D gene DOID:630 genetic disease ISO RGD:1605040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310910 Sema6d semaphorin 6D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1310910 Sema6d semaphorin 6D gene DOID:9256 colorectal cancer ISO RGD:1605040 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310911 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1312 focal segmental glomerulosclerosis ISS RGD:1322089 D RGD:13592920 20200416 MouseDO 1310911 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:630 genetic disease ISO RGD:1322088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310912 Eps8l2 EPS8-like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1310912 Eps8l2 EPS8-like 2 gene DOID:0050729 neutral lipid storage disease ISO RGD:1322090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1310912 Eps8l2 EPS8-like 2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:7240710 20190315 OMIM 1310912 Eps8l2 EPS8-like 2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:26282398|PMID:28281779|PMID:28492532|PMID:32747562 1310912 Eps8l2 EPS8-like 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1322090 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1310912 Eps8l2 EPS8-like 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1322090 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1310912 Eps8l2 EPS8-like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1310912 Eps8l2 EPS8-like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322090 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1310912 Eps8l2 EPS8-like 2 gene DOID:630 genetic disease ISO RGD:1322090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1310912 Eps8l2 EPS8-like 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322090 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1310914 Pip5k1b phosphatidylinositol-4-phosphate 5-kinase type 1 beta gene DOID:630 genetic disease ISO RGD:1322093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310915 Mylk myosin light chain kinase gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1322095 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532|PMID:28602422 1310915 Mylk myosin light chain kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322095 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28602422 1310915 Mylk myosin light chain kinase gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:1322095 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:28602422 1310915 Mylk myosin light chain kinase gene DOID:0080685 aortic dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 1310915 Mylk myosin light chain kinase gene DOID:10283 prostate cancer ISO RGD:1322095 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1310915 Mylk myosin light chain kinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1322095 D RGD:4891491|PMID:18828194 20110118 RGD DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human) 1310915 Mylk myosin light chain kinase gene DOID:1205 allergic disease ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 1310915 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25944730|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:33895855|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27854218|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:14323 Marfan syndrome ISO RGD:1322095 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:1686 glaucoma ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 1310915 Mylk myosin light chain kinase gene DOID:178 vascular disease ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 1310915 Mylk myosin light chain kinase gene DOID:1882 atrial heart septal defect ISO RGD:1322095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:21055718|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29544503|PMID:29961567 1310915 Mylk myosin light chain kinase gene DOID:2841 asthma ISO RGD:1322095 D RGD:4891492|PMID:17472811 20110118 RGD 1310915 Mylk myosin light chain kinase gene DOID:3070 high grade glioma ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10232591 1310915 Mylk myosin light chain kinase gene DOID:3627 aortic aneurysm ISO RGD:1322095 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial aortic aneurysms PMID:26017485|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:4724 brain edema ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19943851 1310915 Mylk myosin light chain kinase gene DOID:552 pneumonia ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15863634 1310915 Mylk myosin light chain kinase gene DOID:630 genetic disease ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:65 connective tissue disease ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21055718|PMID:24033266|PMID:25741868|PMID:26854089|PMID:27879251|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:77 gastrointestinal system disease ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 1310915 Mylk myosin light chain kinase gene DOID:807 carotid artery occlusion ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 1310915 Mylk myosin light chain kinase gene DOID:9000654 Aortic Aneurysm, Familial Abdominal 1 ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1616651|RGD:1322095 D RGD:4891489|PMID:20035030 20110118 RGD 1310915 Mylk myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:7240710 20210602 OMIM 1310915 Mylk myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26017485|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28602422|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30755392|PMID:33895855|PMID:34422331|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:9000808 Hypercholesterolemia ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21052790 1310915 Mylk myosin light chain kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970723|PMID:18710790 1310915 Mylk myosin light chain kinase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1322095 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:1322095 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:9004484 Sepsis ISO RGD:1322095 D RGD:1581052|PMID:16399953 19990101 RGD 1310915 Mylk myosin light chain kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10232591|PMID:12970723 1310915 Mylk myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374788 1310915 Mylk myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:1581052|PMID:16399953 19990101 RGD associated with Sepsis 1310915 Mylk myosin light chain kinase gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868 1310915 Mylk myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:7240710 20140903 OMIM 1310915 Mylk myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:11029314|PMID:16199547|PMID:16399953|PMID:17576681|PMID:21055718|PMID:21520333|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28401540|PMID:28492532|PMID:28512736|PMID:28602422|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 1310915 Mylk myosin light chain kinase gene DOID:9007096 Stroke ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 1310915 Mylk myosin light chain kinase gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 1310915 Mylk myosin light chain kinase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1322095 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322095 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1310915 Mylk myosin light chain kinase gene DOID:9270 alkaptonuria ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1310915 Mylk myosin light chain kinase gene DOID:9348 carotid artery dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:11372 megacolon ISO RGD:1322096 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:1596 depressive disorder ISO RGD:1322096 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Depression PMID:28017472 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:5419 schizophrenia ISO RGD:1322096 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:6000 congestive heart failure ISO RGD:1322096 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:630 genetic disease ISO RGD:1322096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28097321 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:9004385 YOON-BELLEN NEURODEVELOPMENTAL SYNDROME ISO RGD:1322096 D RGD:7240710 20220406 OMIM 1310916 Ogdhl oxoglutarate dehydrogenase L gene DOID:9004385 YOON-BELLEN NEURODEVELOPMENTAL SYNDROME ISO RGD:1322096 D RGD:8554872 20220405 ClinVar ClinVar Annotator: match by term: Yoon-Bellen neurodevelopmental syndrome PMID:26539891|PMID:28017472|PMID:34800363 1310917 Tns2 tensin 2 gene DOID:0060852 Pierson syndrome ISS RGD:1615728 D RGD:13592920 20180518 MouseDO OMIM:609049 1310917 Tns2 tensin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1322097 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 1310917 Tns2 tensin 2 gene DOID:630 genetic disease ISO RGD:1322097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29773874 1310919 Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602692 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1310919 Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 gene DOID:2717 Bloom syndrome ISO RGD:1602692 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310919 Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 gene DOID:630 genetic disease ISO RGD:1602692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310919 Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 gene DOID:9256 colorectal cancer ISO RGD:1602692 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310920 Zbtb45 zinc finger and BTB domain containing 45 gene DOID:630 genetic disease ISO RGD:1322100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310921 Snx14 sorting nexin 14 gene DOID:0050753 cerebellar ataxia ISO RGD:1322101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25848753 1310921 Snx14 sorting nexin 14 gene DOID:0050753 cerebellar ataxia ISO RGD:1322101 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 1310921 Snx14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:7240710 20170315 OMIM 1310921 Snx14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 PMID:24501761|PMID:25439728|PMID:25741868|PMID:25848753|PMID:27913285|PMID:28492532 1310921 Snx14 sorting nexin 14 gene DOID:1059 intellectual disability ISO RGD:1322101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25848753 1310921 Snx14 sorting nexin 14 gene DOID:1826 epilepsy ISO RGD:1322101 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 1310921 Snx14 sorting nexin 14 gene DOID:630 genetic disease ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310921 Snx14 sorting nexin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322101 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 1310921 Snx14 sorting nexin 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532 1310922 Snrnp25 small nuclear ribonucleoprotein U11/U12 subunit 25 gene DOID:630 genetic disease ISO RGD:1322103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:7240710 20130221 OMIM 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10908648 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1322105 D RGD:1599311|PMID:10908648 20070130 RGD juvenile myelomonocytic leukemia, OMIM:607785 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:630 genetic disease ISO RGD:1322105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322105 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310923 Arhgap26 Rho GTPase activating protein 26 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1310924 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310924 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:12849 autistic disorder ISO RGD:1322106 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310924 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1322106 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310924 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:630 genetic disease ISO RGD:1322106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310924 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310924 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322106 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310925 Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:0060224 atrial fibrillation ISO RGD:1605404 D RGD:11554173 20211019 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1310925 Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:630 genetic disease ISO RGD:1605404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310926 B3gnt6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:1601928 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310926 B3gnt6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1601928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310926 B3gnt6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601928 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1310928 Xpo7 exportin 7 gene DOID:0060224 atrial fibrillation ISO RGD:1322111 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1310928 Xpo7 exportin 7 gene DOID:630 genetic disease ISO RGD:1322111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310930 Zim1 zinc finger, imprinted 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353341 D RGD:8554872 20180725 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1310930 Zim1 zinc finger, imprinted 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1310930 Zim1 zinc finger, imprinted 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1310930 Zim1 zinc finger, imprinted 1 gene DOID:1059 intellectual disability ISO RGD:1353341 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310930 Zim1 zinc finger, imprinted 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1310930 Zim1 zinc finger, imprinted 1 gene DOID:11372 megacolon ISO RGD:1353341 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1310930 Zim1 zinc finger, imprinted 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1310930 Zim1 zinc finger, imprinted 1 gene DOID:12849 autistic disorder ISO RGD:1353341 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1310930 Zim1 zinc finger, imprinted 1 gene DOID:1826 epilepsy ISO RGD:1353341 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1310930 Zim1 zinc finger, imprinted 1 gene DOID:2213 hemorrhagic disease ISO RGD:1353341 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1310930 Zim1 zinc finger, imprinted 1 gene DOID:5419 schizophrenia ISO RGD:1353341 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310930 Zim1 zinc finger, imprinted 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1353341 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1310930 Zim1 zinc finger, imprinted 1 gene DOID:630 genetic disease ISO RGD:1353341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310930 Zim1 zinc finger, imprinted 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1353341 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1310930 Zim1 zinc finger, imprinted 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353341 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310930 Zim1 zinc finger, imprinted 1 gene DOID:9007661 Dwarfism ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1310931 Ccdc124 coiled-coil domain containing 124 gene DOID:630 genetic disease ISO RGD:1605304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310931 Ccdc124 coiled-coil domain containing 124 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352490 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352490 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1352490 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:630 genetic disease ISO RGD:1352490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1352490 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 1310932 Dppa3 developmental pluripotency-associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352490 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1310933 Susd3 sushi domain containing 3 gene DOID:630 genetic disease ISO RGD:1322117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310934 Ddx50 DExD-box helicase 50 gene DOID:10283 prostate cancer ISO RGD:1322118 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1310934 Ddx50 DExD-box helicase 50 gene DOID:630 genetic disease ISO RGD:1322118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310936 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1310936 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1310936 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1826 epilepsy ISO RGD:1603939 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1310936 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603939 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1310936 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1603939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310937 Parp6 poly (ADP-ribose) polymerase family, member 6 gene DOID:2717 Bloom syndrome ISO RGD:1344996 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310937 Parp6 poly (ADP-ribose) polymerase family, member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1310937 Parp6 poly (ADP-ribose) polymerase family, member 6 gene DOID:630 genetic disease ISO RGD:1344996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310937 Parp6 poly (ADP-ribose) polymerase family, member 6 gene DOID:9256 colorectal cancer ISO RGD:1344996 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310939 Slc49a4 solute carrier family 49 member 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1310939 Slc49a4 solute carrier family 49 member 4 gene DOID:2394 ovarian cancer ISO RGD:1322124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1310939 Slc49a4 solute carrier family 49 member 4 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1322124 D RGD:1601072|PMID:11912179 20070405 RGD DNA:translocation:intron:t(2;3)(q35;q21) 1310939 Slc49a4 solute carrier family 49 member 4 gene DOID:630 genetic disease ISO RGD:1322124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310939 Slc49a4 solute carrier family 49 member 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322124 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1310939 Slc49a4 solute carrier family 49 member 4 gene DOID:9270 alkaptonuria ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1310942 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:630 genetic disease ISO RGD:1322128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310943 Idua alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:7240710 20180207 OMIM 1310943 Idua alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:10607946|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:1550122|PMID:15862278|PMID:16435195|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21639919|PMID:2170400|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:2522450|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:31194252|PMID:31319225|PMID:32188113|PMID:33073008|PMID:33517895|PMID:4112371|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8318992|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 1310943 Idua alpha-L-iduronidase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1322129 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 1310943 Idua alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:7240710 20191030 OMIM 1310943 Idua alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:10466419|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15521993|PMID:15862278|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:21734815|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27520059|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29654546|PMID:29801497|PMID:30093709|PMID:30442156|PMID:30809705|PMID:31194252|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33098355|PMID:33301762|PMID:33517895|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 1310943 Idua alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:7240710 20191030 OMIM 1310943 Idua alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20217237|PMID:20301341|PMID:21253827|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23210910|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29976218|PMID:30083803|PMID:30442156|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31678774|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33301762|PMID:33517895|PMID:33686258|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 1310943 Idua alpha-L-iduronidase gene DOID:10754 otitis media ISS RGD:1322130 D RGD:13592920 20180518 MouseDO OMIM:166760 1310943 Idua alpha-L-iduronidase gene DOID:10808 gastric ulcer IEP D RGD:12910841|PMID:3713687 20170626 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1322129 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IDUA pseudodeficiency PMID:25741868|PMID:28492532|PMID:8554071 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:11068482|PMID:1301941 20170626 RGD DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human) 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:11069860|PMID:7951228 20170626 RGD DNA:missense mutations, nonsense mutation: :multiple 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11159948|PMID:15081804|PMID:15194053|PMID:19309154|PMID:22822036 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:12910504|PMID:8664897 20170616 RGD DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human) 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:12910509|PMID:21734815 20170616 RGD DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human) 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:12910516|PMID:16435195 20170616 RGD DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:12910721|PMID:27146977 20170621 RGD DNA:mutations:exon, intron:multiple 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:1599894|PMID:1301196 20070220 RGD DNA:nonsense mutation:CDS:p.W402X (human) 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11555618|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:1627351|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17407067|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20026495|PMID:20217237|PMID:20301341|PMID:21176924|PMID:21253827|PMID:21364962|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23757202|PMID:23786846|PMID:23837464|PMID:23959878|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24781210|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:25102484|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29140481|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29705972|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29947050|PMID:29976218|PMID:30083803|PMID:30093709|PMID:30442156|PMID:30755342|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31319022|PMID:31341245|PMID:31386236|PMID:31400021|PMID:31678774|PMID:31758674|PMID:32188113|PMID:32432561|PMID:32670797|PMID:33073008|PMID:33098355|PMID:33198351|PMID:33301762|PMID:33517895|PMID:33686258|PMID:34148116|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322130 D RGD:12910501|PMID:19751987 20170616 RGD DNA:nonsense mutation: :p.W392X (mouse) 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322130 D RGD:12910513|PMID:9097952 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322130 D RGD:12910718|PMID:17920451 20170621 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910497|PMID:15194053 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910499|PMID:17407189 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910502|PMID:12948739 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910503|PMID:25597593 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910510|PMID:24100243 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910716|PMID:18523448 20170621 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910719|PMID:15126990 20170621 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:12910720|PMID:15128896 20170621 RGD 1310943 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322130 D RGD:12910508|PMID:21667973 20170616 RGD 1310943 Idua alpha-L-iduronidase gene DOID:1856 cherubism ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1310943 Idua alpha-L-iduronidase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 1310943 Idua alpha-L-iduronidase gene DOID:3082 interstitial lung disease ISO RGD:1322129 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 1310943 Idua alpha-L-iduronidase gene DOID:585 nephrolithiasis ISO RGD:1322129 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 1310943 Idua alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:28492532|PMID:28676128|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 1310943 Idua alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 1310943 Idua alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:33073008|PMID:33517895|PMID:33686258|PMID:4221470|PMID:7951228|PMID:8680403 1310943 Idua alpha-L-iduronidase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:12910840|PMID:6875476 20170626 RGD protein:increased expression:liver 1310943 Idua alpha-L-iduronidase gene DOID:9001793 Generalized Epilepsy ISO RGD:1322129 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 1310943 Idua alpha-L-iduronidase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 1310944 Naa50 N(alpha)-acetyltransferase 50, NatE catalytic subunit gene DOID:630 genetic disease ISO RGD:1322131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310945 Ccdc170 coiled-coil domain containing 170 gene DOID:630 genetic disease ISO RGD:1322133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310945 Ccdc170 coiled-coil domain containing 170 gene DOID:9002239 Estrogen Resistance ISO RGD:1322133 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:33116287 1310946 Papolb poly(A) polymerase beta gene DOID:630 genetic disease ISO RGD:1322134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310948 Golim4 golgi integral membrane protein 4 gene DOID:630 genetic disease ISO RGD:1322138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17143282|PMID:17143285|PMID:17586837|PMID:19953625|PMID:20981092|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060260 ptosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ptosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060466 gingival fibromatosis ISO RGD:1322140 D RGD:1580011|PMID:11868160 19990101 RGD 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060466 gingival fibromatosis ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:18925961|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20186801|PMID:20305546|PMID:20673819|PMID:20683980|PMID:21274610|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23321623|PMID:23487764|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24939586|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26686981|PMID:26918529|PMID:27236105|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30266093|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19352411|PMID:20186801|PMID:21274610|PMID:21387466|PMID:21784453|PMID:22190897|PMID:23321623|PMID:23487764|PMID:24033266|PMID:24037001|PMID:25337068|PMID:25741868|PMID:26214590|PMID:26686981|PMID:26918529|PMID:27236105|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29907801|PMID:30266093|PMID:31292302 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:11063026|PMID:17143282 20161207 RGD DNA:missense mutations:exon:multiple 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:11063178|PMID:17586837 20161207 RGD DNA:missense mutations:exon:multiple 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:11063543|PMID:17143285 20161207 RGD DNA:missense mutations:exon:multiple 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:7240710 20130221 OMIM 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 4 PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322141 D RGD:11064696|PMID:21041952 20221017 RGD DNA:missense mutation:CDS:p.E846K (mouse) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:27763634|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27763634|PMID:28166811|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:27763634|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1322140 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1322140 D RGD:13506813|PMID:19724911 20180220 RGD 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:26350204|PMID:28492532|PMID:32603605 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1682 congenital heart disease ISO RGD:1322140 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Heart, malformation of 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1322140 D RGD:11063543|PMID:17143285 20221026 RGD associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:2316 brain ischemia IDA D RGD:155630597|PMID:26442853 20221024 RGD 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3490 Noonan syndrome ISO RGD:1322140 D RGD:11067112|PMID:20683980 20161207 RGD DNA:missense mutation:exon:p.R497Q (human) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3490 Noonan syndrome ISO RGD:1322140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603482|PMID:17603483 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3490 Noonan syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10675333|PMID:11333268|PMID:14551916|PMID:16267129|PMID:17143282|PMID:17143285|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3526 cerebral infarction ISO RGD:1322140 D RGD:155598600|PMID:35041140 20221018 RGD mRNA:increased expression:blood (human) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:363 uterine cancer ISO RGD:1322140 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3883 Lynch syndrome ISO RGD:1322140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322140 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322140 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:4362 cervical cancer ISO RGD:1322140 D RGD:13441596|PMID:27581326 20171031 RGD mRNA:increased expression:cervix epithelium (human) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19077116|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20607846|PMID:20683980|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22420426|PMID:22465605|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24803665|PMID:24896146|PMID:25741868|PMID:25862627|PMID:26280111|PMID:26918529|PMID:28492532|PMID:29493581|PMID:30784236|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1322140 D RGD:11063543|PMID:17143285 20221026 RGD associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9001891 Atrial Septal Defect, Secundum Type ISO RGD:1322141 D RGD:11064696|PMID:21041952 20221026 RGD DNA:missense mutation:CDS:p.E846K (mouse) 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:1322140 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003091 Noonan Like Syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nuchal bleb, familial PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:7240710 20130221 OMIM 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 PMID:10675333|PMID:11868160|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18651097|PMID:18678287|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30762279|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32603605|PMID:33042901|PMID:33848766|PMID:34008892|PMID:9030684|PMID:9536098 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322140 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007096 Stroke ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:24033266|PMID:25741868|PMID:28492532 1310949 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007661 Dwarfism ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 1310950 Camsap2 calmodulin regulated spectrin-associated protein family, member 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1310950 Camsap2 calmodulin regulated spectrin-associated protein family, member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604039 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310950 Camsap2 calmodulin regulated spectrin-associated protein family, member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604039 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1310950 Camsap2 calmodulin regulated spectrin-associated protein family, member 2 gene DOID:630 genetic disease ISO RGD:1604039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310950 Camsap2 calmodulin regulated spectrin-associated protein family, member 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1310950 Camsap2 calmodulin regulated spectrin-associated protein family, member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604039 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310951 RGD1310951 similar to RIKEN cDNA E130308A19 gene DOID:0080600 COVID-19 ISO RGD:1322143 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1310951 RGD1310951 similar to RIKEN cDNA E130308A19 gene DOID:630 genetic disease ISO RGD:1322143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1322145 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322145 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322145 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1322145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9009193 Hypomyelinating Leukodystrophy 15 ISO RGD:1322145 D RGD:7240710 20190315 OMIM 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9009193 Hypomyelinating Leukodystrophy 15 ISO RGD:1322145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29576217|PMID:9536098 1310952 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322145 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1310953 Cenpn centromere protein N gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603636 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 1310953 Cenpn centromere protein N gene DOID:630 genetic disease ISO RGD:1603636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310954 Plekhb2 pleckstrin homology domain containing B2 gene DOID:5419 schizophrenia ISO RGD:1322147 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310954 Plekhb2 pleckstrin homology domain containing B2 gene DOID:630 genetic disease ISO RGD:1322147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310955 Cpxm2 carboxypeptidase X (M14 family), member 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1345488 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1310955 Cpxm2 carboxypeptidase X (M14 family), member 2 gene DOID:630 genetic disease ISO RGD:1345488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310957 Slitrk5 SLIT and NTRK-like family, member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1322151 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1310957 Slitrk5 SLIT and NTRK-like family, member 5 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1322151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20418887 1310957 Slitrk5 SLIT and NTRK-like family, member 5 gene DOID:5419 schizophrenia ISO RGD:1322151 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310957 Slitrk5 SLIT and NTRK-like family, member 5 gene DOID:630 genetic disease ISO RGD:1322151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310958 Cwh43 cell wall biogenesis 43 C-terminal homolog gene DOID:1572 normal pressure hydrocephalus ISS RGD:1332079 D RGD:13592920 20230309 MouseDO OMIM:236690 1310958 Cwh43 cell wall biogenesis 43 C-terminal homolog gene DOID:630 genetic disease ISO RGD:1602204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310958 Cwh43 cell wall biogenesis 43 C-terminal homolog gene DOID:9005172 Lung Neoplasms ISO RGD:1602204 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1310959 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1793 pancreatic cancer ISO RGD:1322154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 1310959 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:630 genetic disease ISO RGD:1322154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310960 Ndst3 N-deacetylase and N-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1322156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310960 Ndst3 N-deacetylase and N-sulfotransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322156 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310961 Ssr1 signal sequence receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1322158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310962 Btbd1 BTB domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1322160 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1310962 Btbd1 BTB domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1322160 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310962 Btbd1 BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1322160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310962 Btbd1 BTB domain containing 1 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1322160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 1310962 Btbd1 BTB domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1322160 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:10283 prostate cancer ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:7240710 20230517 OMIM 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:12306 vitiligo ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:17377159|PMID:25741868|PMID:27662089|PMID:28492532 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:13628 favism ISO RGD:1322162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:25741868 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:630 genetic disease ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1322162 D RGD:7240710 20230517 OMIM 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital PMID:17377159|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31484767 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:7240710 20230517 OMIM 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9007910 Autoinflammation with Arthritis and Dyskeratosis ISO RGD:1322162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis PMID:16918630|PMID:17377159|PMID:24033266|PMID:25741868|PMID:27965258|PMID:28492532|PMID:30291141 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:7240710 20230517 OMIM 1310963 Nlrp1a NLR family, pyrin domain containing 1A gene DOID:9007939 Multiple Self-healing Palmoplantar Carcinoma ISO RGD:1322162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing PMID:17377159|PMID:23349227|PMID:24033266|PMID:25050600|PMID:25741868|PMID:27662089|PMID:28492532 1310964 Nyap1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602420 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310964 Nyap1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:630 genetic disease ISO RGD:1602420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310965 Ikzf5 IKAROS family zinc finger 5 gene DOID:2340 craniosynostosis ISO RGD:1322164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1310965 Ikzf5 IKAROS family zinc finger 5 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:1322164 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:28492532 1310965 Ikzf5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:7240710 20210113 OMIM 1310965 Ikzf5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 7 PMID:25741868|PMID:31217188|PMID:32419556 1310966 Dok2 docking protein 2 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1322166 D RGD:152177494|PMID:27975172 20220512 RGD mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) 1310966 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1322166 D RGD:9068941 20220519 RGD mRNA:decreased expression:lung (human) PMID:20139980|REF_RGD_ID:152177521 1310966 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1322167 D RGD:152177492|PMID:30475228 20220512 RGD 1310966 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1322167 D RGD:152177521|PMID:20139980 20220517 RGD 1310966 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322167 D RGD:152177493|PMID:24255704 20220512 RGD 1310966 Dok2 docking protein 2 gene DOID:630 genetic disease ISO RGD:1322166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310966 Dok2 docking protein 2 gene DOID:8778 Crohn's disease ISO RGD:1322166 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 1310966 Dok2 docking protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 1310969 Ino80 INO80 complex ATPase subunit gene DOID:1826 epilepsy ISO RGD:1607029 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 1310969 Ino80 INO80 complex ATPase subunit gene DOID:2717 Bloom syndrome ISO RGD:1607029 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1310969 Ino80 INO80 complex ATPase subunit gene DOID:630 genetic disease ISO RGD:1607029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310969 Ino80 INO80 complex ATPase subunit gene DOID:9256 colorectal cancer ISO RGD:1607029 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 PMID:10189087|PMID:12409455|PMID:12605445|PMID:21474760|PMID:21474761|PMID:21977988|PMID:21990275|PMID:22581640|PMID:23794361|PMID:24865609|PMID:25741868|PMID:25741869|PMID:26419500|PMID:26522830|PMID:26641461|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30214071|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740|PMID:33059947 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:30368667|PMID:32628740 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:630 genetic disease ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9000632 Lowry Wood Syndrome ISO RGD:1322173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MICROCEPHALY AND RETINAL DYSTROPHY | ClinVar Annotator: match by term: Lowry-Wood syndrome PMID:12605445|PMID:19288552|PMID:21474760|PMID:21474761|PMID:21977988|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:29165669|PMID:29265708|PMID:29391254|PMID:30368667|PMID:32581362|PMID:32628740 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9002458 Roifman Syndrome ISO RGD:1322173 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Roifman syndrome PMID:10189087|PMID:21474760|PMID:21474761|PMID:21977988|PMID:22581640|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9007073 Cough susceptibility ISO RGD:1322173 D RGD:27226683|PMID:28084903 20200521 RGD associated with Drug-Related Side Effects and Adverse Reactions;; DNA:SNPs:multiple: 1310970 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9007661 Dwarfism ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:12409455|PMID:21474760|PMID:21990275|PMID:22581640|PMID:23794361|PMID:25741868|PMID:26419500|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28669401|PMID:29263834|PMID:29391254|PMID:30214071|PMID:30368667|PMID:32581362|PMID:32595695|PMID:32628740 1310971 Herc4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1322175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310972 Mtmr3 myotubularin related protein 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1343929 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1310972 Mtmr3 myotubularin related protein 3 gene DOID:630 genetic disease ISO RGD:1343929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310972 Mtmr3 myotubularin related protein 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1343929 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 1310973 Sema3e semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:32870266|PMID:9536098 1310973 Sema3e semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098 1310973 Sema3e semaphorin 3E gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1322177 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1310973 Sema3e semaphorin 3E gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1322177 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868 1310973 Sema3e semaphorin 3E gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322177 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 1310973 Sema3e semaphorin 3E gene DOID:13938 amenorrhea ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 1310973 Sema3e semaphorin 3E gene DOID:1826 epilepsy ISO RGD:1322177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 1310973 Sema3e semaphorin 3E gene DOID:224 transient cerebral ischemia disease_progression IEP D RGD:155663383|PMID:30653356 20221115 RGD 1310973 Sema3e semaphorin 3E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322177 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1310973 Sema3e semaphorin 3E gene DOID:5419 schizophrenia ISO RGD:1322177 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310973 Sema3e semaphorin 3E gene DOID:630 genetic disease ISO RGD:1322177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310974 Sorcs3 sortilin-related VPS10 domain containing receptor 3 gene DOID:630 genetic disease ISO RGD:1322178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310975 Pde12 phosphodiesterase 12 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1606683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 1310975 Pde12 phosphodiesterase 12 gene DOID:630 genetic disease ISO RGD:1606683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310975 Pde12 phosphodiesterase 12 gene DOID:9004531 Cardiovirus Infections ISO RGD:1606683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 1310975 Pde12 phosphodiesterase 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1310976 Usp45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:7240710 20190814 OMIM 1310976 Usp45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 1310976 Usp45 ubiquitin specific peptidase 45 gene DOID:630 genetic disease ISO RGD:1322181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310976 Usp45 ubiquitin specific peptidase 45 gene DOID:9007661 Dwarfism ISO RGD:1322181 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1310977 Epm2aip1 EPM2A interacting protein 1 gene DOID:3883 Lynch syndrome ISO RGD:1322182 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:14635101|PMID:15713769|PMID:15942939|PMID:15949572|PMID:16143124|PMID:16736289|PMID:16807412|PMID:16941473|PMID:19173287|PMID:19324997|PMID:19459153|PMID:21712435|PMID:23733757|PMID:24362816|PMID:28492532|PMID:29472279|PMID:31491536|PMID:33309985 1310977 Epm2aip1 EPM2A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310977 Epm2aip1 EPM2A interacting protein 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1310978 Cst5 cystatin D gene DOID:630 genetic disease ISO RGD:1322184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310979 Thbs2 thrombospondin 2 gene DOID:11713 diabetic angiopathy ISO RGD:1322186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 1310979 Thbs2 thrombospondin 2 gene DOID:630 genetic disease ISO RGD:1322186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310979 Thbs2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1322186 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1310979 Thbs2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1322186 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:18455130 1310979 Thbs2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1322186 D RGD:7240710 20230505 OMIM 1310979 Thbs2 thrombospondin 2 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:2317938|PMID:20136391 20100430 RGD 1310979 Thbs2 thrombospondin 2 gene DOID:9351 diabetes mellitus ISO RGD:1322186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0080690 RASopathy ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1601712 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0110651 long QT syndrome 10 ISO RGD:1601712 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:1059 intellectual disability ISO RGD:1601712 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:1324 lung cancer ISO RGD:1601712 D RGD:153297750|PMID:29193083 20220721 RGD DNA:SNP:UTR3:rs11216826 (human) 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:630 genetic disease ISO RGD:1601712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1601712 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310980 Mpzl3 myelin protein zero-like 3 gene DOID:9007661 Dwarfism ISO RGD:1601712 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310981 Trim2 tripartite motif-containing 2 gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:7240710 20140911 OMIM 1310981 Trim2 tripartite motif-containing 2 gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R PMID:16199547|PMID:17576681|PMID:23562820|PMID:23806086|PMID:24088041|PMID:25741868|PMID:25893792|PMID:26257172|PMID:28492532|PMID:9536098 1310981 Trim2 tripartite motif-containing 2 gene DOID:630 genetic disease ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310981 Trim2 tripartite motif-containing 2 gene DOID:7319 axonal neuropathy ISO RGD:1322189 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 1310981 Trim2 tripartite motif-containing 2 gene DOID:8398 osteoarthritis ISO RGD:1322189 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1310982 Col16a1 collagen type XVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1343133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:7240710 20190315 OMIM 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome PMID:23665959|PMID:25741868|PMID:26785492|PMID:28191889|PMID:28303347|PMID:28492532|PMID:28990276|PMID:29656860|PMID:30792901|PMID:31127942 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:1059 intellectual disability ISO RGD:1343133 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:1059 intellectual disability ISO RGD:1343133 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: intellectual disabilities 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:12849 autistic disorder ISO RGD:1343133 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:2234 focal epilepsy ISO RGD:1343133 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1343133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889|PMID:28303347|PMID:28492532|PMID:29656860|PMID:30564305|PMID:30792901 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343133 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28191889|PMID:28303347|PMID:29656860 1310984 Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008582 Developmental Disease ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1310985 Rhod ras homolog family member D gene DOID:1059 intellectual disability ISO RGD:1322195 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310985 Rhod ras homolog family member D gene DOID:630 genetic disease ISO RGD:1322195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310985 Rhod ras homolog family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1310985 Rhod ras homolog family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1310986 Exosc4 exosome component 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1310986 Exosc4 exosome component 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1310986 Exosc4 exosome component 4 gene DOID:4621 holoprosencephaly ISO RGD:1322197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1310986 Exosc4 exosome component 4 gene DOID:630 genetic disease ISO RGD:1322197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310987 Cyb561 cytochrome b-561 gene DOID:630 genetic disease ISO RGD:1322199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310987 Cyb561 cytochrome b-561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:7240710 20190315 OMIM 1310987 Cyb561 cytochrome b-561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:8554872 20190122 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 2 1310988 Abhd1 abhydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1310988 Abhd1 abhydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310989 Fbxl19 F-box and leucine-rich repeat protein 19 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1322203 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1310989 Fbxl19 F-box and leucine-rich repeat protein 19 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1322203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1310989 Fbxl19 F-box and leucine-rich repeat protein 19 gene DOID:630 genetic disease ISO RGD:1322203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310989 Fbxl19 F-box and leucine-rich repeat protein 19 gene DOID:8893 psoriasis ISO RGD:1322203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 1310989 Fbxl19 F-box and leucine-rich repeat protein 19 gene DOID:9008 psoriatic arthritis ISO RGD:1322203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0040083 Chlamydia pneumonia severity ISO RGD:1322206 D RGD:40890270|PMID:29893841 20201208 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1322206 D RGD:40890269|PMID:30093657 20201208 RGD associated with immunodeficiency 14 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1322205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0050746 mantle cell lymphoma ISO RGD:1322205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:7240710 20140911 OMIM 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive PMID:16984281|PMID:17576681|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:27426521|PMID:27555459|PMID:27577878|PMID:27697496|PMID:28104464|PMID:28167755|PMID:28190860|PMID:28492532|PMID:29330011|PMID:29921932|PMID:30138677|PMID:30499059|PMID:30639166|PMID:31031754|PMID:31537641|PMID:32084423|PMID:32581362|PMID:32681977|PMID:34115277|PMID:9536098 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:11573 listeriosis ISO RGD:1322206 D RGD:40890274|PMID:26311905 20201208 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:1380 endometrial cancer ISO RGD:1322205 D RGD:13441595|PMID:21478295 20171030 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:14115 toxic shock syndrome severity ISO RGD:1322206 D RGD:40890272|PMID:28659355 20201208 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:3068 glioblastoma disease_progression ISO RGD:1322205 D RGD:13782051|PMID:24523440 20180816 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:612 primary immunodeficiency disease ISO RGD:1322205 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16984281|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:32581362 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:630 genetic disease ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:7240710 20210505 OMIM 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:16984281|PMID:17576681|PMID:19863561|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:29180244|PMID:29921932|PMID:32581362|PMID:9536098 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9002457 Experimental Arthritis ISO RGD:1322206 D RGD:6482696|PMID:18412166 20120425 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322205 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:1322206 D RGD:40890273|PMID:27999013 20201208 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1322206 D RGD:40890273|PMID:27999013 20201208 RGD 1310990 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta gene DOID:9256 colorectal cancer ISO RGD:1322205 D RGD:13432038|PMID:25366420 20170913 RGD DNA:hypermethylation 1310991 Zfand2a zinc finger AN1-type containing 2A gene DOID:630 genetic disease ISO RGD:1604554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310992 Utp15 UTP15, small subunit processome component gene DOID:630 genetic disease ISO RGD:1604578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310992 Utp15 UTP15, small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604578 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310993 Tet1 tet methylcytosine dioxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1322209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 1310993 Tet1 tet methylcytosine dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1322209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310993 Tet1 tet methylcytosine dioxygenase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322209 D RGD:9586747|PMID:23671639 20141006 RGD protein:decreased expression:liver 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:0060041 autism spectrum disorder ISO RGD:1322211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:0060224 atrial fibrillation ISO RGD:1322211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:7240710 20190315 OMIM 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: IRF2BPL-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:25741868|PMID:30057031|PMID:30166628|PMID:31432588 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:1322211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 PMID:25741868 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:0111253 neurofibromatosis 1 ISO RGD:1322211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:25741868 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:1059 intellectual disability ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:1826 epilepsy ISO RGD:1322211 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:30057031 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:607 paraplegia ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:630 genetic disease ISO RGD:1322211 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30057031 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322211 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1310994 Irf2bpl interferon regulatory factor 2 binding protein-like gene DOID:9008086 Developmental Disabilities ISO RGD:1322211 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1310995 Klk15 kallikrein-related peptidase 15 gene DOID:630 genetic disease ISO RGD:1322213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:26316326|PMID:28492532 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050795 cone dystrophy ISO RGD:1322215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:29184169 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322215 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1322215 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:7240710 20130731 OMIM 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 PMID:12734549|PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26316326|PMID:26464178|PMID:27032803|PMID:27422788|PMID:28041643|PMID:28369829|PMID:28453600|PMID:28492532|PMID:29074561|PMID:29178642|PMID:29184169|PMID:30004997|PMID:31054281|PMID:31877759|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32533184|PMID:32581362|PMID:32865313|PMID:3691693|PMID:9536098 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1322215 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:7240710 20210414 OMIM 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SHILCA SYNDROME PMID:22842227|PMID:22842230|PMID:22842231|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32533184 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:11446 sciatic neuropathy IEP D RGD:13781948|PMID:16914673 20180814 RGD mRNA:increased expression:dorsal root ganglion: 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:4448 macular degeneration ISO RGD:1322215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:5723 optic atrophy ISO RGD:1322215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:630 genetic disease ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1322215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26316326|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362|PMID:32865313 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1322215 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1322215 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9004910 Hereditary Macular Coloboma ISO RGD:1322215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 1310996 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:10450608|PMID:9044825 20160119 RGD DNA:translocation: : 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1322216 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:25741868|PMID:27192671 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322216 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:1037 lymphoid leukemia ISO RGD:1322216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:1062 Fanconi syndrome ISO RGD:1322216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:11054805|PMID:26611891 20161020 RGD 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISS RGD:1322217 D RGD:13592920 20180518 MouseDO OMIM:166760 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:12450 pancytopenia ISO RGD:1322216 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:1588 thrombocytopenia ISO RGD:1322216 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:1788 peritoneal mesothelioma ISO RGD:1322216 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:2213 hemorrhagic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:32935436 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:5426 primary ovarian insufficiency ISO RGD:1322216 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:630 genetic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:8692 myeloid leukemia ISO RGD:1322216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322216 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9002720 Splenomegaly ISO RGD:1322216 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9002928 Colonic Neoplasms ISO RGD:1322216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322216 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:7240710 20161026 OMIM 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 PMID:20091385|PMID:25741868|PMID:26581901|PMID:28492532|PMID:29146883|PMID:29519864|PMID:34355501 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:1322216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9119 acute myeloid leukemia ISO RGD:1322216 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30472098 1310997 Mecom MDS1 and EVI1 complex locus gene DOID:9827 radioulnar synostosis ISO RGD:1322216 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:0060673 Peters anomaly ISO RGD:1322218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1322218 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia PMID:29764912 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:5419 schizophrenia ISO RGD:1322218 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1322218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1322218 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:9006343 Autosomal Recessive Spinocerebellar Ataxia 30 ISO RGD:1322218 D RGD:7240710 20210728 OMIM 1310998 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:9006343 Autosomal Recessive Spinocerebellar Ataxia 30 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 PMID:26697887|PMID:29383861|PMID:29764912 1310999 Cadm1 cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1322220 D RGD:2289091|PMID:12079507 20080121 RGD DNA:hypermethylation:promoter 1310999 Cadm1 cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:1322220 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1310999 Cadm1 cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1322220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18957284 1310999 Cadm1 cell adhesion molecule 1 gene DOID:1596 depressive disorder ISO RGD:1322220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 1310999 Cadm1 cell adhesion molecule 1 gene DOID:3459 breast carcinoma severity ISO RGD:1322220 D RGD:2289088|PMID:17260099 20080121 RGD DNA:hypermethylation 1310999 Cadm1 cell adhesion molecule 1 gene DOID:3910 lung adenocarcinoma IEP D RGD:2289096|PMID:16814249 20080122 RGD DNA, mRNA:hypermethylation, decreased expression:promoter:liver 1310999 Cadm1 cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1322220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1310999 Cadm1 cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:2289095|PMID:17428255 20080122 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver 1310999 Cadm1 cell adhesion molecule 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1322220 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 1310999 Cadm1 cell adhesion molecule 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1322220 D RGD:2289089|PMID:17009984 20080121 RGD 1310999 Cadm1 cell adhesion molecule 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1322220 D RGD:2296030|PMID:16532039 20080624 RGD DNA:hypermethylation 1310999 Cadm1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1322220 D RGD:2289090|PMID:15589594 20080121 RGD DNA, mRNA:hypermethylation, decreased expression:cervix 1310999 Cadm1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1322220 D RGD:2289089|PMID:17009984 20080121 RGD 1310999 Cadm1 cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322220 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1310999 Cadm1 cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1322220 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1310999 Cadm1 cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1322220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 1311003 Cdca2 cell division cycle associated 2 gene DOID:0080600 COVID-19 ISO RGD:1322226 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311003 Cdca2 cell division cycle associated 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1322226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 1311003 Cdca2 cell division cycle associated 2 gene DOID:2661 myoepithelioma ISO RGD:1322226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1311003 Cdca2 cell division cycle associated 2 gene DOID:630 genetic disease ISO RGD:1322226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311003 Cdca2 cell division cycle associated 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322226 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311004 Ift52 intraflagellar transport 52 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1322228 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1311004 Ift52 intraflagellar transport 52 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1322228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466190|PMID:28492532|PMID:29068549 1311004 Ift52 intraflagellar transport 52 gene DOID:2234 focal epilepsy ISO RGD:1322228 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1311004 Ift52 intraflagellar transport 52 gene DOID:630 genetic disease ISO RGD:1322228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311004 Ift52 intraflagellar transport 52 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1311004 Ift52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:7240710 20190315 OMIM 1311004 Ift52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly PMID:25741868|PMID:26880018|PMID:27466190|PMID:28492532|PMID:30242358|PMID:31042281 1311004 Ift52 intraflagellar transport 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322228 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1311005 Hscb HscB mitochondrial iron-sulfur cluster co-chaperone gene DOID:0111252 neurofibromatosis 2 ISO RGD:1602295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1311005 Hscb HscB mitochondrial iron-sulfur cluster co-chaperone gene DOID:630 genetic disease ISO RGD:1602295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311005 Hscb HscB mitochondrial iron-sulfur cluster co-chaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:7240710 20210929 OMIM 1311005 Hscb HscB mitochondrial iron-sulfur cluster co-chaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 5 PMID:32634119 1311005 Hscb HscB mitochondrial iron-sulfur cluster co-chaperone gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602295 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1311006 C1qtnf4 C1q and TNF related 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1311006 C1qtnf4 C1q and TNF related 4 gene DOID:1059 intellectual disability ISO RGD:1322231 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311006 C1qtnf4 C1q and TNF related 4 gene DOID:630 genetic disease ISO RGD:1322231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311008 Gmds GDP-mannose 4, 6-dehydratase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1322234 D RGD:13673886|PMID:25173105 20180627 RGD DNA:SNPs: :rs11969985,rs2761233(human) 1311008 Gmds GDP-mannose 4, 6-dehydratase gene DOID:12271 aniridia ISO RGD:1322234 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1311008 Gmds GDP-mannose 4, 6-dehydratase gene DOID:630 genetic disease ISO RGD:1322234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311009 Med29 mediator complex subunit 29 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1311009 Med29 mediator complex subunit 29 gene DOID:630 genetic disease ISO RGD:1351639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311009 Med29 mediator complex subunit 29 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:0081200 autosomal recessive intellectual developmental disorder 34 ISO RGD:1322237 D RGD:7240710 20140911 OMIM 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:0081200 autosomal recessive intellectual developmental disorder 34 ISO RGD:1322237 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY PMID:22279524|PMID:25741868|PMID:27773430|PMID:30914828 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:1059 intellectual disability ISO RGD:1322237 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27773430|PMID:30167849|PMID:30914828 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:1826 epilepsy ISO RGD:1322237 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:4450 renal cell carcinoma ISO RGD:1322237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:630 genetic disease ISO RGD:1322237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311010 Cradd CASP2 and RIPK1 domain containing adaptor with death domain gene DOID:9008086 Developmental Disabilities ISO RGD:1322237 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:27208207|PMID:28492532|PMID:9536098 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322239 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:0080046 Stickler syndrome ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:25741868|PMID:28492532|PMID:32531858 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:543 dystonia ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:630 genetic disease ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1322239 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18790661|PMID:19118185|PMID:21163861|PMID:25422467|PMID:25741868|PMID:28492532 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:7240710 20220316 OMIM 1311011 Loxl3 lysyl oxidase-like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532|PMID:33456446 1311012 Samd5 sterile alpha motif domain containing 5 gene DOID:630 genetic disease ISO RGD:1353343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311013 Lrrc4c leucine rich repeat containing 4C gene DOID:1059 intellectual disability ISO RGD:1605967 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311013 Lrrc4c leucine rich repeat containing 4C gene DOID:630 genetic disease ISO RGD:1605967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311014 Tbx2 T-box transcription factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1322243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311014 Tbx2 T-box transcription factor 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1322243 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868 1311014 Tbx2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:7240710 20190626 OMIM 1311014 Tbx2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral anomalies and variable endocrine and T-cell dysfunction PMID:25741868|PMID:28492532|PMID:29726930 1311014 Tbx2 T-box transcription factor 2 gene DOID:10907 microcephaly ISO RGD:1322243 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311014 Tbx2 T-box transcription factor 2 gene DOID:11372 megacolon ISO RGD:1322243 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1311014 Tbx2 T-box transcription factor 2 gene DOID:3393 coronary artery disease ISO RGD:1322243 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 1311014 Tbx2 T-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29726930 1311014 Tbx2 T-box transcription factor 2 gene DOID:769 neuroblastoma ISO RGD:1322243 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 1311015 Piwil4 piwi-like RNA-mediated gene silencing 4 gene DOID:1059 intellectual disability ISO RGD:1322245 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311015 Piwil4 piwi-like RNA-mediated gene silencing 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1322245 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311015 Piwil4 piwi-like RNA-mediated gene silencing 4 gene DOID:14228 oligospermia ISO RGD:1322245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20940137 1311015 Piwil4 piwi-like RNA-mediated gene silencing 4 gene DOID:630 genetic disease ISO RGD:1322245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311016 Gramd2b GRAM domain containing 2B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311016 Gramd2b GRAM domain containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604604 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311016 Gramd2b GRAM domain containing 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311017 Utp6 UTP6 small subunit processome component gene DOID:1969 cerebral palsy ISO RGD:1603639 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1311017 Utp6 UTP6 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311018 Robo3 roundabout guidance receptor 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1311018 Robo3 roundabout guidance receptor 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322248 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311018 Robo3 roundabout guidance receptor 3 gene DOID:12849 autistic disorder ISO RGD:1322248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 1311018 Robo3 roundabout guidance receptor 3 gene DOID:5419 schizophrenia ISO RGD:1322248 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311018 Robo3 roundabout guidance receptor 3 gene DOID:630 genetic disease ISO RGD:1322248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32580277 1311018 Robo3 roundabout guidance receptor 3 gene DOID:9000998 Brain Injuries IEP D RGD:2316136|PMID:16262652 20100126 RGD mRNA:increased expression:brain 1311018 Robo3 roundabout guidance receptor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322248 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311018 Robo3 roundabout guidance receptor 3 gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:1322248 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1311018 Robo3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:7240710 20190327 OMIM 1311018 Robo3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 PMID:15105459|PMID:16525029|PMID:16772357|PMID:18829051|PMID:19041479|PMID:19633821|PMID:21850172|PMID:24969490|PMID:25326635|PMID:25741868|PMID:27318526|PMID:28024310|PMID:28492532|PMID:29215389|PMID:32373565|PMID:32580277|PMID:32860008|PMID:34374989 1311018 Robo3 roundabout guidance receptor 3 gene DOID:9007661 Dwarfism ISO RGD:1322248 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604774 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0080600 COVID-19 ISO RGD:1604774 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:630 genetic disease ISO RGD:1604774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604774 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311019 Plekhn1 pleckstrin homology domain containing N1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311021 Arpin actin-related protein 2/3 complex inhibitor gene DOID:0080600 COVID-19 ISO RGD:1604167 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311021 Arpin actin-related protein 2/3 complex inhibitor gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1311021 Arpin actin-related protein 2/3 complex inhibitor gene DOID:1826 epilepsy ISO RGD:1604167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311021 Arpin actin-related protein 2/3 complex inhibitor gene DOID:2717 Bloom syndrome ISO RGD:1604167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311021 Arpin actin-related protein 2/3 complex inhibitor gene DOID:630 genetic disease ISO RGD:1604167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311021 Arpin actin-related protein 2/3 complex inhibitor gene DOID:9256 colorectal cancer ISO RGD:1604167 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311022 Gramd1a GRAM domain containing 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1311022 Gramd1a GRAM domain containing 1A gene DOID:630 genetic disease ISO RGD:1322253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311023 Dysf dysferlin gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1322255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15535137|PMID:17868276 1311023 Dysf dysferlin gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:12796534|PMID:14678801|PMID:15469449|PMID:17512949|PMID:17897828|PMID:18832576|PMID:18853459|PMID:19493611|PMID:20535123|PMID:21522182|PMID:22046204|PMID:22297152|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24838345|PMID:25525159|PMID:25741868|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26290895|PMID:26467025|PMID:27365461|PMID:27666772|PMID:28492532|PMID:30107846|PMID:30564623|PMID:32528171|PMID:34906502 1311023 Dysf dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:7240710 20180912 OMIM 1311023 Dysf dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:10196377|PMID:10825360|PMID:11053681|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17897828|PMID:17932988|PMID:17994539|PMID:18276788|PMID:18306167|PMID:18832576|PMID:18853459|PMID:19084402|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25133958|PMID:25135358|PMID:25312915|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:26000923|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26290895|PMID:26404900|PMID:26467025|PMID:26579332|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:29382405|PMID:29970176|PMID:30028523|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32400077|PMID:32528171|PMID:32751317|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34559919|PMID:35047756|PMID:8808603|PMID:9536098|PMID:9731526 1311023 Dysf dysferlin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10766988|PMID:11257469|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15827562|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16996541|PMID:17070050|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21522182|PMID:21816046|PMID:22194990|PMID:22297152|PMID:22616201|PMID:23243261|PMID:23406536|PMID:23530687|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25135358|PMID:25312915|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26088049|PMID:26290895|PMID:26467025|PMID:26916285|PMID:27066573|PMID:27229680|PMID:27365461|PMID:27602406|PMID:27647186|PMID:27666772|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31407473|PMID:32400077|PMID:32528171|PMID:32576226|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35135626|PMID:9536098 1311023 Dysf dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15535137 1311023 Dysf dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:7240710 20130221 OMIM 1311023 Dysf dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:10196377|PMID:10766988|PMID:11053681|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12471055|PMID:12796534|PMID:14673575|PMID:14678801|PMID:1483054|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16606933|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19493611|PMID:19528035|PMID:19953532|PMID:20301480|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:33144682|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35047756|PMID:35135626|PMID:8808603|PMID:9536098|PMID:9731526|PMID:9731527 1311023 Dysf dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15535137 1311023 Dysf dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:7240710 20130221 OMIM 1311023 Dysf dysferlin gene DOID:0111187 distal muscular dystrophy with anterior tibial onset ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:11053681|PMID:11198284|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25135358|PMID:25312915|PMID:25493284|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:26000923|PMID:26077327|PMID:26088049|PMID:26404900|PMID:26467025|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32528171|PMID:32576226|PMID:32751317|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34559919|PMID:9536098|PMID:9731526 1311023 Dysf dysferlin gene DOID:11720 distal myopathy ISS RGD:1322256 D RGD:13592920 20180518 MouseDO OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 1311023 Dysf dysferlin gene DOID:14669 acrodysostosis ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peripheral dysostosis PMID:11257469|PMID:16100712|PMID:17070050|PMID:17576681|PMID:18853459|PMID:20535123|PMID:21522182|PMID:22194990|PMID:25741868|PMID:26088049|PMID:26467025|PMID:27647186|PMID:27666772|PMID:28492532|PMID:9536098 1311023 Dysf dysferlin gene DOID:423 myopathy ISO RGD:1322255 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy 1311023 Dysf dysferlin gene DOID:5419 schizophrenia ISO RGD:1322255 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1311023 Dysf dysferlin gene DOID:543 dystonia ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311023 Dysf dysferlin gene DOID:574 peripheral nervous system disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1311023 Dysf dysferlin gene DOID:630 genetic disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17070050|PMID:21522182|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 1311023 Dysf dysferlin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1311023 Dysf dysferlin gene DOID:870 neuropathy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1311023 Dysf dysferlin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311023 Dysf dysferlin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311023 Dysf dysferlin gene DOID:9004518 Dysferlinopathy ISO RGD:1322255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:10196377|PMID:10766988|PMID:11053681|PMID:11198284|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15515206|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:1707005|PMID:17070050|PMID:17129727|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18396043|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19309282|PMID:19493611|PMID:19528035|PMID:19594366|PMID:19763152|PMID:19953532|PMID:20301480|PMID:20307669|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22406018|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23488891|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25214167|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26620441|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27347015|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27671536|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:28904466|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:29997562|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:33144682|PMID:33250842|PMID:33348118|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34281941|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35047756|PMID:35135626|PMID:8808603|PMID:9536098|PMID:9731526 1311023 Dysf dysferlin gene DOID:9005532 Muscle Weakness ISO RGD:1322255 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 1311023 Dysf dysferlin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 1311023 Dysf dysferlin gene DOID:9884 muscular dystrophy ISO RGD:1322255 D RGD:1598789|PMID:9731526 20061219 RGD 1311023 Dysf dysferlin gene DOID:9884 muscular dystrophy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17698709|PMID:20301480|PMID:21522182|PMID:24033266|PMID:25741868|PMID:27884173|PMID:28492532 1311024 Pum2 pumilio RNA-binding family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311024 Pum2 pumilio RNA-binding family member 2 gene DOID:630 genetic disease ISO RGD:1322257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311026 Tkfc triokinase and FMN cyclase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311026 Tkfc triokinase and FMN cyclase gene DOID:1059 intellectual disability ISO RGD:1607064 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311026 Tkfc triokinase and FMN cyclase gene DOID:630 genetic disease ISO RGD:1607064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311026 Tkfc triokinase and FMN cyclase gene DOID:655 inherited metabolic disorder ISO RGD:1607064 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Inborn errors of metabolism PMID:25741868|PMID:32004446 1311026 Tkfc triokinase and FMN cyclase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607064 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311026 Tkfc triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:7240710 20211103 OMIM 1311026 Tkfc triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome PMID:25741868|PMID:32004446 1311027 Dnai4 dynein axonemal intermediate chain 4 gene DOID:1059 intellectual disability ISO RGD:1605635 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1311027 Dnai4 dynein axonemal intermediate chain 4 gene DOID:630 genetic disease ISO RGD:1605635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311028 Arhgap21 Rho GTPase activating protein 21 gene DOID:630 genetic disease ISO RGD:1322263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311030 Tmod3 tropomodulin 3 gene DOID:2717 Bloom syndrome ISO RGD:35316010 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311030 Tmod3 tropomodulin 3 gene DOID:607 paraplegia ISO RGD:35316010 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1311030 Tmod3 tropomodulin 3 gene DOID:630 genetic disease ISO RGD:35316010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311030 Tmod3 tropomodulin 3 gene DOID:9256 colorectal cancer ISO RGD:35316010 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311031 Clec3b C-type lectin domain family 3, member B gene DOID:13300 Scheuermann's disease ISS RGD:1553639 D RGD:13592920 20180518 MouseDO OMIM:181440 1311031 Clec3b C-type lectin domain family 3, member B gene DOID:630 genetic disease ISO RGD:1602501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311031 Clec3b C-type lectin domain family 3, member B gene DOID:8398 osteoarthritis disease_progression ISO RGD:1602501 D RGD:1625347|PMID:15334463 20070604 RGD 1311031 Clec3b C-type lectin domain family 3, member B gene DOID:9005553 Retinal Macular Dystrophy 4 ISO RGD:1602501 D RGD:7240710 20220810 OMIM 1311031 Clec3b C-type lectin domain family 3, member B gene DOID:9005553 Retinal Macular Dystrophy 4 ISO RGD:1602501 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 PMID:35331648 1311032 Cst9l cystatin 9-like gene DOID:630 genetic disease ISO RGD:1322270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311034 Ethe1 ETHE1, persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:7240710 20130221 OMIM 1311034 Ethe1 ETHE1, persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:14732903|PMID:16183799|PMID:16199547|PMID:16828325|PMID:16906473|PMID:17353187|PMID:17576681|PMID:17712735|PMID:18593870|PMID:19136963|PMID:19289697|PMID:20528888|PMID:21472225|PMID:25058219|PMID:25198162|PMID:25596185|PMID:25741868|PMID:26194623|PMID:27391121|PMID:2777167|PMID:27771676|PMID:27830356|PMID:28492532|PMID:28933811|PMID:29625556|PMID:30298498|PMID:30349987|PMID:30864297|PMID:31477743|PMID:32111695|PMID:32485156|PMID:32860008|PMID:32923369|PMID:9536098 1311034 Ethe1 ETHE1, persulfide dioxygenase gene DOID:5419 schizophrenia ISO RGD:1322274 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311034 Ethe1 ETHE1, persulfide dioxygenase gene DOID:630 genetic disease ISO RGD:1322274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311034 Ethe1 ETHE1, persulfide dioxygenase gene DOID:9006534 Nervous System Malformations ISO RGD:1322274 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28933811 1311035 Ffar3 free fatty acid receptor 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1322276 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1311035 Ffar3 free fatty acid receptor 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1311035 Ffar3 free fatty acid receptor 3 gene DOID:10825 essential hypertension ISO RGD:1322276 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 1311035 Ffar3 free fatty acid receptor 3 gene DOID:543 dystonia ISO RGD:1322276 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1311035 Ffar3 free fatty acid receptor 3 gene DOID:630 genetic disease ISO RGD:1322276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311036 Zfyve21 zinc finger FYVE-type containing 21 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1311036 Zfyve21 zinc finger FYVE-type containing 21 gene DOID:630 genetic disease ISO RGD:1322277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311037 Crls1 cardiolipin synthase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1311037 Crls1 cardiolipin synthase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1311037 Crls1 cardiolipin synthase 1 gene DOID:630 genetic disease ISO RGD:1322279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311037 Crls1 cardiolipin synthase 1 gene DOID:9001293 Combined Oxidative Phosphorylation Deficiency 57 ISO RGD:1322279 D RGD:7240710 20230125 OMIM 1311037 Crls1 cardiolipin synthase 1 gene DOID:9001293 Combined Oxidative Phosphorylation Deficiency 57 ISO RGD:1322279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 PMID:35147173 1311039 Pde6b phosphodiesterase 6B gene DOID:0050534 congenital stationary night blindness ISO RGD:1322283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8075643 1311039 Pde6b phosphodiesterase 6B gene DOID:0050534 congenital stationary night blindness ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28492532|PMID:30718709 1311039 Pde6b phosphodiesterase 6B gene DOID:0050572 cone-rod dystrophy ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:22334370|PMID:23105016|PMID:24828262|PMID:25525159|PMID:25741868|PMID:27588261|PMID:28492532|PMID:30718709|PMID:8394174|PMID:8595886|PMID:9238087 1311039 Pde6b phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:7240710 20140911 OMIM 1311039 Pde6b phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18310263|PMID:18723146|PMID:18854872|PMID:20591486|PMID:21147909|PMID:21655355|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26667666|PMID:26868535|PMID:26872967|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31630094|PMID:31877679|PMID:33090715|PMID:33673512|PMID:7599633|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643 1311039 Pde6b phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:7240710 20130221 OMIM 1311039 Pde6b phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE PMID:16199547|PMID:17044014|PMID:17576681|PMID:18723146|PMID:22334370|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25472526|PMID:25741868|PMID:26667666|PMID:26868535|PMID:27588261|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31877679|PMID:33576794|PMID:33691693|PMID:7724547|PMID:8075643|PMID:8394174|PMID:8595886|PMID:9536098 1311039 Pde6b phosphodiesterase 6B gene DOID:0111009 cone-rod dystrophy 1 ISO RGD:12073166 D RGD:9068941 20230504 OMIA Cone-rod dystrophy 1 PMID:15064680|PMID:22065099|PMID:24045995|PMID:30050836 1311039 Pde6b phosphodiesterase 6B gene DOID:10283 prostate cancer ISO RGD:1322283 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311039 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa IMP D RGD:40924664|PMID:31009522 20210304 RGD compared to wild-type 1311039 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8394174 1311039 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:25999674|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30718709|PMID:30998820|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 1311039 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 1311039 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 1311039 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322284 D RGD:8657407|PMID:17267005 20140609 RGD 1311039 Pde6b phosphodiesterase 6B gene DOID:14791 Leber congenital amaurosis ISO RGD:1322283 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:33673512 1311039 Pde6b phosphodiesterase 6B gene DOID:1856 cherubism ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1311039 Pde6b phosphodiesterase 6B gene DOID:4448 macular degeneration ISO RGD:1322283 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 1311039 Pde6b phosphodiesterase 6B gene DOID:630 genetic disease ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32531858 1311039 Pde6b phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8692941|PMID:16123450|PMID:17213800|PMID:24586289 1311039 Pde6b phosphodiesterase 6B gene DOID:8501 fundus dystrophy ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25823529|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27353947|PMID:27588261|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29641573|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33691693|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 1311039 Pde6b phosphodiesterase 6B gene DOID:9002189 High Myopia ISO RGD:1322283 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 1311039 Pde6b phosphodiesterase 6B gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 1311039 Pde6b phosphodiesterase 6B gene DOID:9006205 Animal Disease Models ISO RGD:1322283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17213800 1311040 Gbp5 guanylate binding protein 5 gene DOID:10608 celiac disease ISO RGD:1322285 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1311040 Gbp5 guanylate binding protein 5 gene DOID:630 genetic disease ISO RGD:1322285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311040 Gbp5 guanylate binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322285 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311041 Arid5a AT-rich interaction domain 5A gene DOID:1059 intellectual disability ISO RGD:1322287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311041 Arid5a AT-rich interaction domain 5A gene DOID:5419 schizophrenia ISO RGD:1322287 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311041 Arid5a AT-rich interaction domain 5A gene DOID:630 genetic disease ISO RGD:1322287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311042 Fmnl1 formin-like 1 gene DOID:630 genetic disease ISO RGD:1322289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311042 Fmnl1 formin-like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311043 Sbds Sbds, ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1311043 Sbds Sbds, ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:1599541|PMID:12496757 20070207 RGD DNA:mutations:multiple 1311043 Sbds Sbds, ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26479198|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 1311043 Sbds Sbds, ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome susceptibility ISO RGD:1322290 D RGD:7240710 20230510 OMIM 1311043 Sbds Sbds, ribosome maturation factor gene DOID:1059 intellectual disability ISO RGD:1322290 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311043 Sbds Sbds, ribosome maturation factor gene DOID:12449 aplastic anemia ISO RGD:1322290 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1311043 Sbds Sbds, ribosome maturation factor gene DOID:12449 aplastic anemia ISO RGD:1322290 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aplastic anemia, susceptibility to PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 1311043 Sbds Sbds, ribosome maturation factor gene DOID:12449 aplastic anemia susceptibility ISO RGD:1322290 D RGD:7240710 20230510 OMIM 1311043 Sbds Sbds, ribosome maturation factor gene DOID:14755 argininosuccinic aciduria ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 1311043 Sbds Sbds, ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322290 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311043 Sbds Sbds, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1322290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 1311043 Sbds Sbds, ribosome maturation factor gene DOID:9007661 Dwarfism ISO RGD:1322290 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:16867904|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 1311045 Pacrgl parkin coregulated like gene DOID:630 genetic disease ISO RGD:1605875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311046 Tmprss15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:7240710 20190315 OMIM 1311046 Tmprss15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterokinase deficiency PMID:1147667|PMID:11719902|PMID:16199547|PMID:25741868|PMID:28492532|PMID:4322674 1311046 Tmprss15 transmembrane serine protease 15 gene DOID:10652 Alzheimer's disease ISO RGD:1322295 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1311046 Tmprss15 transmembrane serine protease 15 gene DOID:630 genetic disease ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311046 Tmprss15 transmembrane serine protease 15 gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:1322295 D RGD:1599212|PMID:11719902 20070119 RGD 1311046 Tmprss15 transmembrane serine protease 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322295 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311047 Sptbn5 spectrin, beta, non-erythrocytic 5 gene DOID:2717 Bloom syndrome ISO RGD:1322297 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311047 Sptbn5 spectrin, beta, non-erythrocytic 5 gene DOID:630 genetic disease ISO RGD:1322297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311047 Sptbn5 spectrin, beta, non-erythrocytic 5 gene DOID:9256 colorectal cancer ISO RGD:1322297 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311048 Rnf7 ring finger protein 7 gene DOID:630 genetic disease ISO RGD:1322298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311049 Clip4 CAP-GLY domain containing linker protein family, member 4 gene DOID:630 genetic disease ISO RGD:1350068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311049 Clip4 CAP-GLY domain containing linker protein family, member 4 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1350068 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 1311050 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1322301 D RGD:9590163|PMID:23055267 20161025 RGD DNA:missense mutations:cds: 1311050 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 1311050 Mbd6 methyl-CpG binding domain protein 6 gene DOID:607 paraplegia ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1311050 Mbd6 methyl-CpG binding domain protein 6 gene DOID:630 genetic disease ISO RGD:1322301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311050 Mbd6 methyl-CpG binding domain protein 6 gene DOID:6846 familial melanoma ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1311050 Mbd6 methyl-CpG binding domain protein 6 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 1311051 Ppil4 peptidylprolyl isomerase like 4 gene DOID:630 genetic disease ISO RGD:1322302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311052 Nup160 nucleoporin 160 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1311052 Nup160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:7240710 20190315 OMIM 1311052 Nup160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 19 PMID:25741868|PMID:28492532|PMID:30179222 1311052 Nup160 nucleoporin 160 gene DOID:1059 intellectual disability ISO RGD:1322303 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311052 Nup160 nucleoporin 160 gene DOID:630 genetic disease ISO RGD:1322303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311053 Dux4 double homeobox 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:8663052 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:27019113 1311053 Dux4 double homeobox 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:8663052 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:22796148 1311053 Dux4 double homeobox 4 gene DOID:2229 factor XI deficiency ISO RGD:8663052 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 1311053 Dux4 double homeobox 4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:8663052 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:27776115 1311055 Gins2 GINS complex subunit 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311055 Gins2 GINS complex subunit 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602113 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1311055 Gins2 GINS complex subunit 2 gene DOID:630 genetic disease ISO RGD:1602113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311055 Gins2 GINS complex subunit 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1602113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311056 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:10534 stomach cancer ISO RGD:1322308 D RGD:10401218|PMID:21789020 20151002 RGD protein:decreased expression:stomach: 1311056 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1322308 D RGD:10401219|PMID:24917520 20151002 RGD protein:decreased expression:urothelium: 1311056 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:3911 progeria ISO RGD:1322309 D RGD:10401221|PMID:20726853 20151002 RGD 1311056 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:630 genetic disease ISO RGD:1322308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311056 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1322308 D RGD:10401218|PMID:21789020 20151002 RGD protein:decreased expression:colorectum: 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1322310 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:1059 intellectual disability ISO RGD:1322310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:2746 glycogen storage disease V ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1322310 D RGD:2289400|PMID:15592684 20080410 RGD 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:630 genetic disease ISO RGD:1322310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322310 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27501413 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322310 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27501413 1311057 Brms1 BRMS1, transcriptional repressor and anoikis regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311058 Adck2 aarF domain containing kinase 2 gene DOID:0080690 RASopathy ISO RGD:1322312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1311058 Adck2 aarF domain containing kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322312 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311058 Adck2 aarF domain containing kinase 2 gene DOID:630 genetic disease ISO RGD:1322312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311058 Adck2 aarF domain containing kinase 2 gene DOID:699 mitochondrial myopathy ISS RGD:1322313 D RGD:13592920 20191128 MouseDO OMIM:251900 1311060 Ctps1 CTP synthase 1 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1322315 D RGD:2317903|PMID:12819026 20110601 RGD mRNA:increased expression:biliary tract neoplasm (human) 1311060 Ctps1 CTP synthase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322315 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311060 Ctps1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:7240710 20170503 OMIM 1311060 Ctps1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:16199547|PMID:17576681|PMID:24033266|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:30899265|PMID:32161190|PMID:9536098 1311060 Ctps1 CTP synthase 1 gene DOID:630 genetic disease ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311060 Ctps1 CTP synthase 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322315 D RGD:5132859|PMID:19302751 20110601 RGD mRNA:increased expression:nasopharynx (human) 1311061 Zc3h6 zinc finger CCCH type containing 6 gene DOID:630 genetic disease ISO RGD:1322317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311062 Tulp1 TUB like protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1322319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1311062 Tulp1 TUB like protein 1 gene DOID:0050581 brachydactyly ISO RGD:1322319 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:15024725|PMID:31549751 1311062 Tulp1 TUB like protein 1 gene DOID:0050817 Stargardt disease ISO RGD:1322319 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 1311062 Tulp1 TUB like protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17620573|PMID:17962469|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26394700|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411|PMID:9462750 1311062 Tulp1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:7240710 20130221 OMIM 1311062 Tulp1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 15 PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342276|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26448634|PMID:28492532|PMID:29641573|PMID:30054919|PMID:30337596|PMID:30950243|PMID:31054281|PMID:31549751|PMID:31736247|PMID:32037395|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 1311062 Tulp1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:7240710 20130425 OMIM 1311062 Tulp1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:16199547|PMID:17576681|PMID:17620573|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23499059|PMID:23591405|PMID:23661368|PMID:25324289|PMID:25342276|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26427415|PMID:26766544|PMID:26856745|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28492532|PMID:28559085|PMID:28981474|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30950243|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33921607|PMID:33946315|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 1311062 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:1624352|PMID:9462750 20070510 RGD RP14,OMIM:600132;DNA:point mutations:exon:R420P, F491L,I459K 1311062 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8547535|PMID:23701314 20140217 RGD 1311062 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 1311062 Tulp1 TUB like protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:30054919|PMID:30718709|PMID:32531858|PMID:8606774|PMID:9462750|PMID:9660588 1311062 Tulp1 TUB like protein 1 gene DOID:630 genetic disease ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311062 Tulp1 TUB like protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:22605927|PMID:22665969|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26427415|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29641573|PMID:30337596|PMID:30718709|PMID:31054281|PMID:32531858|PMID:33173045|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 1311062 Tulp1 TUB like protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:8606774 1311065 Tekt2 tektin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322323 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311065 Tekt2 tektin 2 gene DOID:630 genetic disease ISO RGD:1322323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311066 Aar2 AAR2 splicing factor gene DOID:630 genetic disease ISO RGD:1322325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311066 Aar2 AAR2 splicing factor gene DOID:9008086 Developmental Disabilities ISO RGD:1322325 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 1311067 Srsf10 serine and arginine rich splicing factor 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1311067 Srsf10 serine and arginine rich splicing factor 10 gene DOID:4448 macular degeneration ISO RGD:1322327 D RGD:11038792|PMID:24098751 20160301 RGD protein:increased expression:retina (human) 1311067 Srsf10 serine and arginine rich splicing factor 10 gene DOID:630 genetic disease ISO RGD:1322327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311067 Srsf10 serine and arginine rich splicing factor 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 1311067 Srsf10 serine and arginine rich splicing factor 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1311067 Srsf10 serine and arginine rich splicing factor 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 1311068 Fezf2 Fez family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1346685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0050902 medulloblastoma ISO RGD:1322330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0070004 myeloid neoplasm ISO RGD:1322330 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:7240710 20130221 OMIM 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia PMID:10077649|PMID:10971406|PMID:11071383|PMID:11133753|PMID:11392330|PMID:11972523|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16219544|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17034029|PMID:17054430|PMID:17576681|PMID:17666371|PMID:18090929|PMID:18240171|PMID:18422784|PMID:18451306|PMID:18769448|PMID:19036112|PMID:19302922|PMID:19388932|PMID:20113333|PMID:20188141|PMID:21162090|PMID:21225925|PMID:21228398|PMID:21326037|PMID:21489838|PMID:21659346|PMID:22180433|PMID:22389068|PMID:23103231|PMID:23625800|PMID:23908116|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:26316487|PMID:26423830|PMID:26854587|PMID:27069254|PMID:27100302|PMID:27418648|PMID:27449473|PMID:28492532|PMID:28697167|PMID:28823277|PMID:28859041|PMID:29384262|PMID:29625052|PMID:30840646|PMID:30886832|PMID:31064749|PMID:31249973|PMID:31294534|PMID:32581362|PMID:32581363|PMID:32703794|PMID:34573280|PMID:35314707|PMID:35477182|PMID:8073287|PMID:9536098|PMID:971406 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322330 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia IEP D RGD:10448997|PMID:15670044 20151210 RGD protein:decreased expression:blood, platelet (rat) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322330 D RGD:10449011|PMID:12209520 20151211 RGD associated with Lupus Erythematosus, Systemic 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322330 D RGD:1600454|PMID:10077649 20070309 RGD congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10971406|PMID:11133753|PMID:11972523|PMID:16199547|PMID:16470591|PMID:18240171|PMID:18422784|PMID:19302922|PMID:21225925|PMID:21489838|PMID:21659346|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25538044|PMID:25741868|PMID:26854587|PMID:28492532|PMID:28859041|PMID:31064749|PMID:32581362|PMID:8073287|PMID:971406 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322331 D RGD:10449017|PMID:8630375 20151211 RGD 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ameliorates ISO RGD:1322330 D RGD:126925754|PMID:32841939 20210518 RGD associated with End Stage Liver Disease 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1883 hepatitis C ISO RGD:1322330 D RGD:126925755|PMID:23157389 20210519 RGD mRNA:decreased expression:liver (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2043 hepatitis B ISO RGD:1322330 D RGD:126925755|PMID:23157389 20210519 RGD mRNA:decreased expression:liver (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2213 hemorrhagic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11972523|PMID:16470591|PMID:21659346|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28859041|PMID:32703794 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2224 essential thrombocythemia ISO RGD:1322330 D RGD:10449014|PMID:14764528 20151211 RGD DNA:missense mutation:cds:pS505N (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2224 essential thrombocythemia ISO RGD:1322330 D RGD:10449016|PMID:11122159 20151211 RGD mRNA, protein:decreased expression:blood, platelet (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2224 essential thrombocythemia ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:11133753|PMID:14764528|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16470591|PMID:17054430|PMID:17666371|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28697167|PMID:31064749|PMID:8073287 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:14764528|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21228032|PMID:23970983|PMID:25741868 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:11073684|PMID:19036112 20160503 RGD DNA:mutation:cds:c.317C > T,p.P106L(human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:16484586 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis IMP D RGD:10449004|PMID:19671919 20151211 RGD 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:7240710 20130221 OMIM 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Primary myelofibrosis PMID:10971406|PMID:11071383|PMID:11133753|PMID:14764528|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17666371|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:21326037|PMID:21489838|PMID:23625800|PMID:23970983|PMID:24033266|PMID:24728327|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:32703794|PMID:35477182|PMID:8073287 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:630 genetic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1322331 D RGD:126925755|PMID:23157389 20210519 RGD human cells in mouse model 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:8692 myeloid leukemia ISO RGD:1322330 D RGD:10449009|PMID:10621836 20151211 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9000940 Thrombocytosis, Benign Familial Microcytic ISO RGD:1322330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic PMID:11133753|PMID:16199547|PMID:16470591|PMID:21489838|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8073287 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:16834459|PMID:16868251|PMID:18769448|PMID:20113333|PMID:21326037|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31294534 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis ISO RGD:1322331 D RGD:126925751|PMID:30770989 20210518 RGD associated with pancreatic ductal adenocarcinoma; human cells in mouse model 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1322330 D RGD:126925751|PMID:30770989 20210518 RGD associated with pancreatic cancer; protein:increased expression:liver, pancreas (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis severity ISO RGD:1322330 D RGD:126925752|PMID:23747337 20210817 RGD associated with colorectal carcinoma;protein:increased expression:colorectum (human) 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:7240710 20140903 OMIM 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic PMID:11133753|PMID:14764528|PMID:15269348|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19036112|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:21326037|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:34573280|PMID:8073287 1311069 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:1322330 D RGD:9068941 20210820 RGD protein:decreased expression:blood serum (human) PMID:28871230|REF_RGD_ID:150340590 1311070 Me3 malic enzyme 3 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1322332 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1311070 Me3 malic enzyme 3 gene DOID:1059 intellectual disability ISO RGD:1322332 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311070 Me3 malic enzyme 3 gene DOID:630 genetic disease ISO RGD:1322332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311071 Recql RecQ like helicase gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 1311071 Recql RecQ like helicase gene DOID:1324 lung cancer ISO RGD:1322333 D RGD:2317370|PMID:18422747 20100331 RGD 1311071 Recql RecQ like helicase gene DOID:162 cancer ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer 1311071 Recql RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:2317365|PMID:16540687 20100331 RGD DNA:SNP:3'utr:rs13035 (human) 1311071 Recql RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:2317369|PMID:19768149 20100331 RGD DNA:SNPs:introns 1311071 Recql RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:2317370|PMID:18422747 20100331 RGD 1311071 Recql RecQ like helicase gene DOID:1826 epilepsy ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25915596|PMID:26467025|PMID:28492532|PMID:32546565 1311071 Recql RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982 1311071 Recql RecQ like helicase gene DOID:630 genetic disease ISO RGD:1322333 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311071 Recql RecQ like helicase gene DOID:684 hepatocellular carcinoma ISO RGD:1322333 D RGD:9068941 20220825 RGD PMID:18422747|REF_RGD_ID:2317370 1311071 Recql RecQ like helicase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322333 D RGD:2317370|PMID:18422747 20100331 RGD protein:increased expression:liver 1311071 Recql RecQ like helicase gene DOID:687 hepatoblastoma ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 1311071 Recql RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32566746|PMID:9536098 1311071 Recql RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:9536098 1311071 Recql RecQ like helicase gene DOID:9007661 Dwarfism ISO RGD:1322333 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1311071 Recql RecQ like helicase gene DOID:9008939 Breast Neoplasms ISO RGD:1322333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25915596 1311071 Recql RecQ like helicase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 1311072 Rtfdc1 replication termination factor 2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1322335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311073 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1311073 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:1059 intellectual disability ISO RGD:1322337 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311073 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:630 genetic disease ISO RGD:1322337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311073 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1322337 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1311075 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1311075 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322340 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1311075 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311075 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311075 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322340 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311075 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311076 Klhl29 kelch-like family member 29 gene DOID:630 genetic disease ISO RGD:1605890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311077 Fam76b family with sequence similarity 76, member B gene DOID:1059 intellectual disability ISO RGD:1605286 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311077 Fam76b family with sequence similarity 76, member B gene DOID:12704 ataxia telangiectasia ISO RGD:1605286 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311077 Fam76b family with sequence similarity 76, member B gene DOID:630 genetic disease ISO RGD:1605286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311078 Ten1 TEN1 subunit of CST complex gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:2801979 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency 1311079 Lgi3 leucine-rich repeat LGI family, member 3 gene DOID:630 genetic disease ISO RGD:1322345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311079 Lgi3 leucine-rich repeat LGI family, member 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1311079 Lgi3 leucine-rich repeat LGI family, member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:7240710 20221214 OMIM 1311079 Lgi3 leucine-rich repeat LGI family, member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome PMID:25741868|PMID:29269699|PMID:35948005 1311080 Ndnf neuron-derived neurotrophic factor gene DOID:289 endometriosis ISO RGD:1606239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1311080 Ndnf neuron-derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1606239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311080 Ndnf neuron-derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:7240710 20200408 OMIM 1311080 Ndnf neuron-derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia PMID:25741868|PMID:31883645 1311080 Ndnf neuron-derived neurotrophic factor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1311080 Ndnf neuron-derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606239 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311081 Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322348 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311081 Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:630 genetic disease ISO RGD:1322348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311082 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1322350 D RGD:14700648|PMID:26984774 20190808 RGD 1311082 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:0111590 Cohen syndrome ISO RGD:1322350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1311082 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:5517 stomach carcinoma ISO RGD:1322350 D RGD:14700649|PMID:23722107 20190808 RGD 1311082 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:630 genetic disease ISO RGD:1322350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311082 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322351 D RGD:14700647|PMID:24155661 20190808 RGD associated with Mammary Neoplasms, Experimental 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1346526 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A PMID:25741868 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:7240710 20140911 OMIM 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 PMID:18414213|PMID:23023333|PMID:25741868|PMID:28492532 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1346526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1346526 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:1059 intellectual disability ISO RGD:1346526 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:13636 Fanconi anemia ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:14780 KBG syndrome ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1311083 Chmp1a charged multivesicular body protein 1A gene DOID:630 genetic disease ISO RGD:1346526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34148545 1311084 C3h9orf50 similar to human chromosome 9 open reading frame 50 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311084 C3h9orf50 similar to human chromosome 9 open reading frame 50 gene DOID:630 genetic disease ISO RGD:1606874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:7240710 20190315 OMIM 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 26 PMID:11101839|PMID:25741868|PMID:29408807 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1322354 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:630 genetic disease ISO RGD:1322354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322355 D RGD:14995329|PMID:25617348 20191021 RGD protein:increased tyrosine phosphorylation: : 1311085 Gab1 GRB2-associated binding protein 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1322354 D RGD:39128202|PMID:17211494 20200925 RGD DNA:SNP:intron: 1311086 Gpatch4 G patch domain containing 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1311086 Gpatch4 G patch domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311086 Gpatch4 G patch domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311086 Gpatch4 G patch domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311086 Gpatch4 G patch domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606544 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311086 Gpatch4 G patch domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311086 Gpatch4 G patch domain containing 4 gene DOID:630 genetic disease ISO RGD:1606544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311086 Gpatch4 G patch domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606544 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311087 Exd2 exonuclease 3'-5' domain containing 2 gene DOID:630 genetic disease ISO RGD:1322357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311088 Krtap15-1 keratin associated protein 15-1 gene DOID:630 genetic disease ISO RGD:1322358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311090 Stoml3 stomatin like 3 gene DOID:630 genetic disease ISO RGD:1322361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311092 Oxsm 3-oxoacyl-ACP synthase, mitochondrial gene DOID:630 genetic disease ISO RGD:1603026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311093 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:7240710 20151209 OMIM 1311093 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:18414213|PMID:21104864|PMID:21109227|PMID:21681106|PMID:24525055|PMID:25741868|PMID:26467025|PMID:27074222|PMID:28492532|PMID:29382405|PMID:30208948|PMID:31127727|PMID:31167812|PMID:31475037|PMID:31671076|PMID:31828823|PMID:33693846 1311093 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:2717 Bloom syndrome ISO RGD:3130125 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311093 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:3191 nemaline myopathy ISO RGD:3130125 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:25741868 1311093 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:630 genetic disease ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311093 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:9256 colorectal cancer ISO RGD:3130125 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311095 Qrich1 glutamine-rich 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311095 Qrich1 glutamine-rich 1 gene DOID:1059 intellectual disability ISO RGD:1606541 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28692176|PMID:33009816|PMID:34859529 1311095 Qrich1 glutamine-rich 1 gene DOID:630 genetic disease ISO RGD:1606541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27694994|PMID:34859529 1311095 Qrich1 glutamine-rich 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606541 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1311095 Qrich1 glutamine-rich 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311095 Qrich1 glutamine-rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:7240710 20190315 OMIM 1311095 Qrich1 glutamine-rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ververi-Brady syndrome PMID:25741868|PMID:28692176|PMID:30281152|PMID:33009816|PMID:34859529 1311096 Gpr157 G protein-coupled receptor 157 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322370 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1311096 Gpr157 G protein-coupled receptor 157 gene DOID:630 genetic disease ISO RGD:1322370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311096 Gpr157 G protein-coupled receptor 157 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322370 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311097 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:0060476 Perlman syndrome ISO RGD:1322372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Predisposition to Wilms tumor PMID:25099282|PMID:28492532 1311097 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1322372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311097 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9003133 Hypertelorism ISO RGD:1322372 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 1311097 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322372 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: CTR9-related neurodevelopmental disorder PMID:25741868 1311098 Dnajc22 DnaJ heat shock protein family (Hsp40) member C22 gene DOID:630 genetic disease ISO RGD:1602458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311099 Rpgrip1l Rpgrip1-like gene DOID:0050753 cerebellar ataxia ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:0050777 Joubert syndrome ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 1311099 Rpgrip1l Rpgrip1-like gene DOID:0050778 Meckel syndrome ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:0050778 Meckel syndrome ISS RGD:1322375 D RGD:13592920 20180518 MouseDO 1311099 Rpgrip1l Rpgrip1-like gene DOID:0060668 anencephaly ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:7240710 20130221 OMIM 1311099 Rpgrip1l Rpgrip1-like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 1311099 Rpgrip1l Rpgrip1-like gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1603695 D RGD:11352374|PMID:22183348 20170720 RGD DNA:polymorphism:cds:p.R744Q (rs2302677)(human) 1311099 Rpgrip1l Rpgrip1-like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21866095|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28492532|PMID:29343940|PMID:29620724|PMID:29991045|PMID:9536098 1311099 Rpgrip1l Rpgrip1-like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 1311099 Rpgrip1l Rpgrip1-like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17558407|PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:11537350|PMID:17960139 20160930 RGD DNA:missense mutations, splice-site mutation:exon, intron:multiple 1311099 Rpgrip1l Rpgrip1-like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:7240710 20130221 OMIM 1311099 Rpgrip1l Rpgrip1-like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:20301500|PMID:21866095|PMID:23351400|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572|PMID:9536098 1311099 Rpgrip1l Rpgrip1-like gene DOID:0111112 nephronophthisis 1 ISO RGD:1603695 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:1059 intellectual disability ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:10907 microcephaly ISO RGD:1603695 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311099 Rpgrip1l Rpgrip1-like gene DOID:12712 nephronophthisis ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:12712 nephronophthisis ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:18414213|PMID:19430481|PMID:20301500|PMID:25741868|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 1311099 Rpgrip1l Rpgrip1-like gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1311099 Rpgrip1l Rpgrip1-like gene DOID:2786 cerebellar disease ISO RGD:1603695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 1311099 Rpgrip1l Rpgrip1-like gene DOID:2975 cystic kidney disease ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:557 kidney disease ISO RGD:1603695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 1311099 Rpgrip1l Rpgrip1-like gene DOID:557 kidney disease ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18414213|PMID:25741868|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:5614 eye disease ISO RGD:1603695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 1311099 Rpgrip1l Rpgrip1-like gene DOID:630 genetic disease ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17558409|PMID:18414213|PMID:25741868|PMID:26092869|PMID:28378410|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:8466 retinal degeneration ISO RGD:1603695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 1311099 Rpgrip1l Rpgrip1-like gene DOID:8501 fundus dystrophy ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:8725 vascular dementia susceptibility ISO RGD:1603695 D RGD:13204815|PMID:22425971 20170720 RGD DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) 1311099 Rpgrip1l Rpgrip1-like gene DOID:9000639 COACH Syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:17558407|PMID:17558409|PMID:19430481|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31390572 1311099 Rpgrip1l Rpgrip1-like gene DOID:9000983 Encephalocele ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1603695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 1311099 Rpgrip1l Rpgrip1-like gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1603695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:28492532 1311099 Rpgrip1l Rpgrip1-like gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603695 D RGD:11073359|PMID:17558409 20170720 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: 1311099 Rpgrip1l Rpgrip1-like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:7240710 20201223 OMIM 1311099 Rpgrip1l Rpgrip1-like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COACH syndrome 3 PMID:17558409|PMID:19574260|PMID:25741868|PMID:26092869|PMID:28492532 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:1604974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:12849 autistic disorder ISO RGD:1604974 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:13580 cholestasis ISO RGD:1604974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:1604974 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:5419 schizophrenia ISO RGD:1604974 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:630 genetic disease ISO RGD:1604974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:7240710 20210825 OMIM 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 PMID:25741868|PMID:31863603 1311100 Slc51a solute carrier family 51 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:1604974 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 1311101 Cda cytidine deaminase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1311101 Cda cytidine deaminase gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1311101 Cda cytidine deaminase gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1311101 Cda cytidine deaminase gene DOID:10534 stomach cancer ISO RGD:1322377 D RGD:152995290|PMID:8076377 20220614 RGD protein:increased expression:stomach: 1311101 Cda cytidine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322377 D RGD:2316365|PMID:18347182 20100210 RGD DNA:snp:cds:p.K27Q (human) 1311101 Cda cytidine deaminase gene DOID:630 genetic disease ISO RGD:1322377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311101 Cda cytidine deaminase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1311101 Cda cytidine deaminase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322377 D RGD:152995291|PMID:28347776 20220614 RGD DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human) 1311101 Cda cytidine deaminase gene DOID:9008939 Breast Neoplasms ISO RGD:1322377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10811482|PMID:25330770 1311102 Tspan12 tetraspanin 12 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:25250762|PMID:28041643|PMID:28492532 1311102 Tspan12 tetraspanin 12 gene DOID:0050535 exudative vitreoretinopathy ISS RGD:1551712 D RGD:13592920 20180518 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 1311102 Tspan12 tetraspanin 12 gene DOID:0060844 Norrie disease ISO RGD:1322379 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:25250762 1311102 Tspan12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:7240710 20130221 OMIM 1311102 Tspan12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 PMID:15665352|PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:34738848 1311102 Tspan12 tetraspanin 12 gene DOID:308 early myoclonic encephalopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 1311102 Tspan12 tetraspanin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322379 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311102 Tspan12 tetraspanin 12 gene DOID:630 genetic disease ISO RGD:1322379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311102 Tspan12 tetraspanin 12 gene DOID:8501 fundus dystrophy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:20159112|PMID:21334594|PMID:28492532|PMID:9536098 1311102 Tspan12 tetraspanin 12 gene DOID:9002174 Disease Susceptibility ISO RGD:1322379 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 1311102 Tspan12 tetraspanin 12 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1322379 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:25250762 1311103 Ooep oocyte expressed protein gene DOID:3659 sialuria ISO RGD:1351084 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1311103 Ooep oocyte expressed protein gene DOID:630 genetic disease ISO RGD:1351084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311104 Nceh1 neutral cholesterol ester hydrolase 1 gene DOID:1062 Fanconi syndrome ISO RGD:1606253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1311104 Nceh1 neutral cholesterol ester hydrolase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1606253 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32171938 1311104 Nceh1 neutral cholesterol ester hydrolase 1 gene DOID:630 genetic disease ISO RGD:1606253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311105 Arid2 AT-rich interaction domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1322383 D RGD:150340710|PMID:31918270 20210830 RGD 1311105 Arid2 AT-rich interaction domain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311105 Arid2 AT-rich interaction domain 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322383 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 1311105 Arid2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:7240710 20190315 OMIM 1311105 Arid2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:24728327|PMID:25741868|PMID:26238514|PMID:28124119|PMID:28492532|PMID:28884947|PMID:30838730 1311105 Arid2 AT-rich interaction domain 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1322383 D RGD:8554872 20190924 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 1311105 Arid2 AT-rich interaction domain 2 gene DOID:10534 stomach cancer onset ISO RGD:1322383 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 1311105 Arid2 AT-rich interaction domain 2 gene DOID:1059 intellectual disability ISO RGD:1322383 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311105 Arid2 AT-rich interaction domain 2 gene DOID:10907 microcephaly ISO RGD:1322383 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 1311105 Arid2 AT-rich interaction domain 2 gene DOID:1324 lung cancer ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1311105 Arid2 AT-rich interaction domain 2 gene DOID:630 genetic disease ISO RGD:1322383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 1311105 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822264|PMID:22634756 1311105 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:150340712|PMID:28498550 20210830 RGD associated with hepatitis B;protein:decreased expression:liver 1311105 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1311105 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322383 D RGD:150340708|PMID:32071245 20210830 RGD 1311105 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322383 D RGD:150429631|PMID:25701229 20210910 RGD 1311105 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322383 D RGD:150340711|PMID:27351279 20210830 RGD 1311105 Arid2 AT-rich interaction domain 2 gene DOID:9000351 Diarrhea 9 ISO RGD:1322383 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Chronic diarrhea PMID:25741868 1311105 Arid2 AT-rich interaction domain 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322383 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1311105 Arid2 AT-rich interaction domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322383 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311105 Arid2 AT-rich interaction domain 2 gene DOID:9008582 Developmental Disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311105 Arid2 AT-rich interaction domain 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1322383 D RGD:150340708|PMID:32071245 20210830 RGD associated with hepatocellular carcinoma, 1311105 Arid2 AT-rich interaction domain 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322383 D RGD:150429650|PMID:33262464 20210910 RGD 1311106 Olfml3 olfactomedin-like 3 gene DOID:0080690 RASopathy ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1311106 Olfml3 olfactomedin-like 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1311106 Olfml3 olfactomedin-like 3 gene DOID:10283 prostate cancer ISO RGD:1322385 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311106 Olfml3 olfactomedin-like 3 gene DOID:630 genetic disease ISO RGD:1322385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311106 Olfml3 olfactomedin-like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311107 Irgc immunity related GTPase cinema gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1311107 Irgc immunity related GTPase cinema gene DOID:5419 schizophrenia ISO RGD:1606259 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311107 Irgc immunity related GTPase cinema gene DOID:630 genetic disease ISO RGD:1606259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:7240710 20141015 OMIM 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:16384941|PMID:17851563|PMID:19480389|PMID:20045992|PMID:20238057|PMID:20718729|PMID:24244438|PMID:25741868|PMID:26558346|PMID:28492532|PMID:30718709 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:7240710 20130425 OMIM 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10 PMID:11875049|PMID:11875050|PMID:15851576|PMID:15882147|PMID:16384941|PMID:16671097|PMID:21791244|PMID:25741868|PMID:26720483|PMID:28492532|PMID:28945494 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11875050|PMID:16384941 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:1599608|PMID:11875050 20070208 RGD DNA:missense mutation: :p.D226N, p.V268I (human) 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:5144134|PMID:18385099 20110801 RGD human gene in mouse model 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:5144221|PMID:11875049 20140307 RGD DNA:missense mutation:exon:p.R224P (human) 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30718709 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28492532|PMID:30718709 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16384941 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322388 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322388 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:5144136|PMID:14981049 20110801 RGD 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:5144221|PMID:11875049 20110802 RGD mRNA:decreased expression:retina (mouse) 1311108 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322388 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:0080600 COVID-19 ISO RGD:1322394 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:630 genetic disease ISO RGD:1322394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322394 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:7240710 20190306 OMIM 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9002669 Hypoxia ISO RGD:1322394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311112 Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) gene DOID:9005930 Endotoxemia IEP D RGD:10427879|PMID:19268478 20151203 RGD mRNA,protein:decreased expression,decreased activity:liver: 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:0080199 colorectal carcinoma ISO RGD:1322398 D RGD:1581429|PMID:16778189 19990101 RGD 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:299 adenocarcinoma ISO RGD:1322398 D RGD:1581429|PMID:16778189 19990101 RGD 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:3168 squamous cell neoplasm ISO RGD:1322398 D RGD:1581429|PMID:16778189 19990101 RGD 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:3905 lung carcinoma ISO RGD:1322398 D RGD:1581429|PMID:16778189 19990101 RGD 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:4552 large cell carcinoma ISO RGD:1322398 D RGD:1581429|PMID:16778189 19990101 RGD 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:630 genetic disease ISO RGD:1322398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311114 Strap serine/threonine kinase receptor associated protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15720808 1311115 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311115 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:12849 autistic disorder ISO RGD:1322400 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311115 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1322400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311115 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311115 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322400 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311115 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311117 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1322833 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311117 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:0080054 achondrogenesis type IA ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1311117 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:0081063 DICER1 syndrome ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1311117 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:10283 prostate cancer ISO RGD:1322833 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311117 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1322833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311118 Raet1e retinoic acid early transcript 1E gene DOID:630 genetic disease ISO RGD:1322405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311120 Med17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:7240710 20130221 OMIM 1311120 Med17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PMID:18414213|PMID:20950787|PMID:25741868|PMID:26004231|PMID:26240385|PMID:28492532|PMID:30345598|PMID:30919572 1311120 Med17 mediator complex subunit 17 gene DOID:1059 intellectual disability ISO RGD:1322408 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1311120 Med17 mediator complex subunit 17 gene DOID:10907 microcephaly ISO RGD:1322408 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1311120 Med17 mediator complex subunit 17 gene DOID:289 endometriosis ISO RGD:1322408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1311120 Med17 mediator complex subunit 17 gene DOID:630 genetic disease ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20950787|PMID:26004231|PMID:28492532|PMID:30345598 1311121 Ell elongation factor for RNA polymerase II gene DOID:630 genetic disease ISO RGD:1322410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311121 Ell elongation factor for RNA polymerase II gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1311122 Smim14 small integral membrane protein 14 gene DOID:630 genetic disease ISO RGD:1606130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311122 Smim14 small integral membrane protein 14 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1605371 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1605371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:12849 autistic disorder ISO RGD:1605371 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:557 kidney disease ISO RGD:1605371 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:24001450|PMID:35710981 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:630 genetic disease ISO RGD:1605371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311123 Slc47a1 solute carrier family 47 member 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1605371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1311124 Ddx49 DEAD-box helicase 49 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322415 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1311124 Ddx49 DEAD-box helicase 49 gene DOID:630 genetic disease ISO RGD:1322415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311124 Ddx49 DEAD-box helicase 49 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1311125 Slc16a11 solute carrier family 16, member 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322416 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1311125 Slc16a11 solute carrier family 16, member 11 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322416 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1311125 Slc16a11 solute carrier family 16, member 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1311125 Slc16a11 solute carrier family 16, member 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1322416 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1311125 Slc16a11 solute carrier family 16, member 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1322416 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1311125 Slc16a11 solute carrier family 16, member 11 gene DOID:630 genetic disease ISO RGD:1322416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311126 Ttc39a tetratricopeptide repeat domain 39A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322418 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1311126 Ttc39a tetratricopeptide repeat domain 39A gene DOID:630 genetic disease ISO RGD:1322418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311126 Ttc39a tetratricopeptide repeat domain 39A gene DOID:9007188 Liver Neoplasms ISO RGD:1322418 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1322420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:15728199|PMID:18182452|PMID:21642377|PMID:23155703|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:11199 hypoparathyroidism ISS RGD:1322421 D RGD:13592920 20180518 MouseDO OMIM:146200 | OMIM:307700 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18712808|PMID:27480553 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:7240710 20200520 OMIM 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2 PMID:11602629|PMID:15728199|PMID:15863676|PMID:18583467|PMID:18712808|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:7240710 20190315 OMIM 1311127 Gcm2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 4 PMID:15728199|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:34008892 1311128 Bcl11b BCL11 transcription factor B gene DOID:0060041 autism spectrum disorder ISO RGD:1322422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311128 Bcl11b BCL11 transcription factor B gene DOID:0060058 lymphoma ISO RGD:1322422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17941976 1311128 Bcl11b BCL11 transcription factor B gene DOID:0080600 COVID-19 ISO RGD:1322422 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311128 Bcl11b BCL11 transcription factor B gene DOID:0111962 combined immunodeficiency ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25627829|PMID:27959755 1311128 Bcl11b BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:7240710 20190315 OMIM 1311128 Bcl11b BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 PMID:25627829|PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:32185379 1311128 Bcl11b BCL11 transcription factor B gene DOID:10907 microcephaly ISO RGD:1322422 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311128 Bcl11b BCL11 transcription factor B gene DOID:12849 autistic disorder ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28492532 1311128 Bcl11b BCL11 transcription factor B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1322422 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 1311128 Bcl11b BCL11 transcription factor B gene DOID:630 genetic disease ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28303347|PMID:28492532|PMID:29985992|PMID:32659295 1311128 Bcl11b BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:7240710 20190315 OMIM 1311128 Bcl11b BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992 1311129 Prpf38a pre-mRNA processing factor 38A gene DOID:630 genetic disease ISO RGD:1602851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1322425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24550734 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10636730|PMID:11406649|PMID:12813757|PMID:14614394|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:17576681|PMID:19340010|PMID:20301304|PMID:21357940|PMID:24033266|PMID:24319098|PMID:24668667|PMID:24814191|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28813618|PMID:9077475|PMID:9204958|PMID:9536098|PMID:9583744 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:7240710 20171011 OMIM 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy PMID:14562173|PMID:19710953|PMID:21466533|PMID:23550562|PMID:24005051|PMID:25676728|PMID:25741868|PMID:26604146|PMID:2663347|PMID:26786512|PMID:27309958|PMID:28492532|PMID:9199555 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1322425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10398261|PMID:10577906|PMID:11851893|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:7550320|PMID:9199555|PMID:9740252 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1322425 D RGD:1600884|PMID:7550320 20070329 RGD 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:7240710 20220608 OMIM 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate PMID:10398261|PMID:10577906|PMID:10636730|PMID:10951237|PMID:11851893|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:19340010|PMID:20301304|PMID:21357940|PMID:21466533|PMID:23550562|PMID:24005051|PMID:24319098|PMID:25741868|PMID:26604146|PMID:28492532|PMID:7092249|PMID:7550320|PMID:8618019|PMID:9012408|PMID:9077475|PMID:9199555|PMID:9204958|PMID:9457913|PMID:9457914|PMID:9740252 1311130 Col17a1 collagen type XVII alpha 1 chain gene DOID:9002189 High Myopia ISO RGD:1322425 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: High myopia PMID:24814191|PMID:25803036 1311131 Cdc42ep1 CDC42 effector protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1311131 Cdc42ep1 CDC42 effector protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322427 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311131 Cdc42ep1 CDC42 effector protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311131 Cdc42ep1 CDC42 effector protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311131 Cdc42ep1 CDC42 effector protein 1 gene DOID:630 genetic disease ISO RGD:1322427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311132 Exoc3l1 exocyst complex component 3-like 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311132 Exoc3l1 exocyst complex component 3-like 1 gene DOID:630 genetic disease ISO RGD:1605832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311133 Ipo11 importin 11 gene DOID:630 genetic disease ISO RGD:1322430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311134 Neb nebulin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1322432 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 1311134 Neb nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:7240710 20210616 OMIM 1311134 Neb nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:15221447|PMID:16199547|PMID:17576681|PMID:19232495|PMID:19346529|PMID:21798101|PMID:22183965|PMID:22367672|PMID:23572184|PMID:24033266|PMID:25079567|PMID:25205138|PMID:25205148|PMID:25741868|PMID:25741874|PMID:26403434|PMID:26467025|PMID:26578207|PMID:26841830|PMID:27933661|PMID:28336317|PMID:28492532|PMID:29274205|PMID:32222963|PMID:32721234|PMID:33376055|PMID:9536098 1311134 Neb nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:7240710 20130731 OMIM 1311134 Neb nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30950222|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31965297|PMID:32062132|PMID:32222963|PMID:32403337|PMID:32721234|PMID:33060286|PMID:33250842|PMID:33442022|PMID:33742171|PMID:34440373|PMID:34782754|PMID:7739042|PMID:9536098 1311134 Neb nebulin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322432 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311134 Neb nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:30057997|PMID:30467404|PMID:30859559|PMID:32222963|PMID:32721234|PMID:33742171|PMID:9536098 1311134 Neb nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:30057997|PMID:30467404|PMID:30859559|PMID:31230720|PMID:32222963|PMID:32721234|PMID:33442022|PMID:33742171|PMID:9536098 1311134 Neb nebulin gene DOID:574 peripheral nervous system disease ISO RGD:1322432 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1311134 Neb nebulin gene DOID:630 genetic disease ISO RGD:1322432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25741868|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26841830|PMID:28492532|PMID:32222963|PMID:32721234|PMID:9536098 1311134 Neb nebulin gene DOID:870 neuropathy ISO RGD:1322432 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1311134 Neb nebulin gene DOID:9000123 Deglutition Disorders ISO RGD:1322432 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 1311134 Neb nebulin gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 1311134 Neb nebulin gene DOID:9008386 Hydrops Fetalis ISO RGD:1322432 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 1311134 Neb nebulin gene DOID:9884 muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:18414213|PMID:25205138|PMID:25741868|PMID:28492532 1311135 Aasdh aminoadipate-semialdehyde dehydrogenase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1311135 Aasdh aminoadipate-semialdehyde dehydrogenase gene DOID:630 genetic disease ISO RGD:1606160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311136 Tmem259 transmembrane protein 259 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1322435 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1311136 Tmem259 transmembrane protein 259 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1322435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1311136 Tmem259 transmembrane protein 259 gene DOID:5339 cyclic hematopoiesis ISO RGD:1322435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1311136 Tmem259 transmembrane protein 259 gene DOID:630 genetic disease ISO RGD:1322435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311138 Zfp251 zinc finger protein 251 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1322438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 1311138 Zfp251 zinc finger protein 251 gene DOID:630 genetic disease ISO RGD:1322438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311139 Aire autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:7240710 20130221 OMIM 1311139 Aire autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:10084559|PMID:10677297|PMID:10720083|PMID:10946904|PMID:11275943|PMID:11343230|PMID:11524731|PMID:11524733|PMID:11600535|PMID:11836330|PMID:12050215|PMID:12471056|PMID:12503856|PMID:12542742|PMID:12625412|PMID:12843157|PMID:14557425|PMID:14582926|PMID:14974083|PMID:15511668|PMID:15712268|PMID:15811934|PMID:16114041|PMID:16166780|PMID:16199547|PMID:16313305|PMID:16684821|PMID:16774540|PMID:16784312|PMID:16792967|PMID:16965330|PMID:17101293|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17289071|PMID:17539912|PMID:17576681|PMID:17675238|PMID:18200029|PMID:18248641|PMID:18264745|PMID:18274776|PMID:18320920|PMID:1836330|PMID:18399903|PMID:18414213|PMID:18414681|PMID:18426830|PMID:18616706|PMID:18682433|PMID:18708298|PMID:18713028|PMID:18728167|PMID:19037923|PMID:19209622|PMID:19246027|PMID:19265170|PMID:19322061|PMID:19758376|PMID:19807739|PMID:19863576|PMID:20140861|PMID:20185822|PMID:20407228|PMID:20453472|PMID:20718774|PMID:21070315|PMID:21295522|PMID:21505073|PMID:21508664|PMID:21724609|PMID:21865375|PMID:21932610|PMID:22024611|PMID:22104652|PMID:22162465|PMID:23000069|PMID:23074189|PMID:23133448|PMID:23320549|PMID:23342054|PMID:23620608|PMID:23643663|PMID:24014553|PMID:24033266|PMID:24158785|PMID:24703644|PMID:24948345|PMID:25064028|PMID:25068407|PMID:25361846|PMID:25367057|PMID:25402387|PMID:25707324|PMID:25741868|PMID:26084028|PMID:26114819|PMID:26141571|PMID:26467025|PMID:26650942|PMID:26915675|PMID:27048654|PMID:27105486|PMID:27253668|PMID:27266815|PMID:27504588|PMID:27588307|PMID:27646917|PMID:27884173|PMID:28323927|PMID:28446514|PMID:28472507|PMID:28492532|PMID:28567288|PMID:28911151|PMID:28919897|PMID:29129473|PMID:29335648|PMID:2943776|PMID:29437776|PMID:29666621|PMID:30003128|PMID:30287219|PMID:30290665|PMID:30863741|PMID:31420020|PMID:31433868|PMID:31588815|PMID:31874111|PMID:32373116|PMID:32441320|PMID:32531373|PMID:32627016|PMID:32767280|PMID:33225392|PMID:33352647|PMID:33468135|PMID:33574239|PMID:33599910|PMID:34008892|PMID:34573280|PMID:35521792|PMID:6031738|PMID:9398839|PMID:9398840|PMID:9536098|PMID:9717837|PMID:9837820|PMID:9856486|PMID:9888391|PMID:9921903 1311139 Aire autoimmune regulator gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1311139 Aire autoimmune regulator gene DOID:0110266 cataract 9 multiple types ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1311139 Aire autoimmune regulator gene DOID:12842 Guillain-Barre syndrome ISS RGD:1322441 D RGD:13592920 20180518 MouseDO OMIM:139393 1311139 Aire autoimmune regulator gene DOID:12849 autistic disorder ISO RGD:1322440 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311139 Aire autoimmune regulator gene DOID:12894 Sjogren's syndrome ISS RGD:1322441 D RGD:13592920 20180518 MouseDO OMIM:270150 1311139 Aire autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome IMP D RGD:38599145|PMID:29959280 20200910 RGD 1311139 Aire autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1322440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16982213 1311139 Aire autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1322440 D RGD:1599008|PMID:9921903 20070111 RGD Polyendocrinopathies, Autoimmune 1311139 Aire autoimmune regulator gene DOID:1508 candidiasis ISO RGD:1322440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12050215 1311139 Aire autoimmune regulator gene DOID:612 primary immunodeficiency disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16965330|PMID:19758376|PMID:25741868|PMID:28446514|PMID:28492532|PMID:28911151 1311139 Aire autoimmune regulator gene DOID:630 genetic disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311139 Aire autoimmune regulator gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322440 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1311139 Aire autoimmune regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322440 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311139 Aire autoimmune regulator gene DOID:9004464 Skin Neoplasms ISO RGD:1322440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 1311139 Aire autoimmune regulator gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:1322441 D RGD:2306853|PMID:18399912 20090508 RGD 1311139 Aire autoimmune regulator gene DOID:9263 homocystinuria ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1311139 Aire autoimmune regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311141 Angptl6 angiopoietin-like 6 gene DOID:0080600 COVID-19 ISO RGD:1322443 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311141 Angptl6 angiopoietin-like 6 gene DOID:630 genetic disease ISO RGD:1322443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311141 Angptl6 angiopoietin-like 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1322443 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311141 Angptl6 angiopoietin-like 6 gene DOID:9970 obesity ISS RGD:1322444 D RGD:13592920 20180518 MouseDO OMIM:601665 1311142 Garin5a golgi associated RAB2 interactor 5A gene DOID:630 genetic disease ISO RGD:1604551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311142 Garin5a golgi associated RAB2 interactor 5A gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1604551 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:35684946 1311143 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:243065273|PMID:24086444 20230417 RGD protein:decreased expression:septum, heart left ventricle, heart right ventricle (human) 1311143 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572 1311143 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203 1311143 Dsg2 desmoglein 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1322446 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 1311143 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:0060319 cardiac arrest ISO RGD:1322446 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20400443|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387 1311143 Dsg2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103 1311143 Dsg2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 1311143 Dsg2 desmoglein 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 1311143 Dsg2 desmoglein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 1311143 Dsg2 desmoglein 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1322446 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20129281|PMID:20603720|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23071725|PMID:23299917|PMID:23671136|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24436435|PMID:24704780|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26230511|PMID:26899768|PMID:28492532|PMID:29062102|PMID:35819174 1311143 Dsg2 desmoglein 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:23671136|PMID:24033266|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575 1311143 Dsg2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:7240710 20130221 OMIM 1311143 Dsg2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32516855|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33652588|PMID:33673806|PMID:33789662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 1311143 Dsg2 desmoglein 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322446 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 1311143 Dsg2 desmoglein 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1322446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 1311143 Dsg2 desmoglein 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322446 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:18639457|PMID:20031616|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30885746|PMID:31402444 1311143 Dsg2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:7240710 20130425 OMIM 1311143 Dsg2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:12586364|PMID:16199547|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:27055156|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29544605|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:33029862|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34317382|PMID:35087879|PMID:35300203|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:1059 intellectual disability ISO RGD:1322446 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311143 Dsg2 desmoglein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20400443|PMID:21220045|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:25213555|PMID:25741868|PMID:27055156|PMID:28492532|PMID:28600387|PMID:29456632|PMID:32659924 1311143 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy IEP D RGD:264347602|PMID:26708424 20230418 RGD protein:increased expression:heart (rat) 1311143 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746 1311143 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746 1311143 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221 1311143 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221 1311143 Dsg2 desmoglein 2 gene DOID:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 1311143 Dsg2 desmoglein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1322446 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1311143 Dsg2 desmoglein 2 gene DOID:630 genetic disease ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311143 Dsg2 desmoglein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1322446 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 1311143 Dsg2 desmoglein 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1322446 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 1311143 Dsg2 desmoglein 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 1311143 Dsg2 desmoglein 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 1311143 Dsg2 desmoglein 2 gene DOID:9003163 Heart Block ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 1311143 Dsg2 desmoglein 2 gene DOID:9003936 Cardiomegaly IEP D RGD:264347602|PMID:26708424 20230418 RGD protein:increased expression:heart (rat) 1311143 Dsg2 desmoglein 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1322446 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 1311144 Dtwd1 DTW domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1604324 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311144 Dtwd1 DTW domain containing 1 gene DOID:630 genetic disease ISO RGD:1604324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311144 Dtwd1 DTW domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1604324 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311146 Eps8l1 EPS8-like 1 gene DOID:630 genetic disease ISO RGD:1322450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311147 Mdp1 magnesium-dependent phosphatase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1601722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1311147 Mdp1 magnesium-dependent phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1601722 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311147 Mdp1 magnesium-dependent phosphatase 1 gene DOID:630 genetic disease ISO RGD:1601722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311147 Mdp1 magnesium-dependent phosphatase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1601722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1311147 Mdp1 magnesium-dependent phosphatase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601722 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311148 Cpne1 copine 1 gene DOID:0080281 schizophrenia 19 ISO RGD:1322452 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Schizophrenia 19 PMID:28628109 1311148 Cpne1 copine 1 gene DOID:630 genetic disease ISO RGD:1322452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311149 Coq6 coenzyme Q6 monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:7240710 20140911 OMIM 1311149 Coq6 coenzyme Q6 monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 1311149 Coq6 coenzyme Q6 monooxygenase gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1322454 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1311149 Coq6 coenzyme Q6 monooxygenase gene DOID:1059 intellectual disability ISO RGD:1322454 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1311149 Coq6 coenzyme Q6 monooxygenase gene DOID:630 genetic disease ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311151 Ccnt1 cyclin T1 gene DOID:6000 congestive heart failure ISO RGD:1322458 D RGD:1556509|PMID:15297879 20150213 RGD 1311151 Ccnt1 cyclin T1 gene DOID:630 genetic disease ISO RGD:1322457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311151 Ccnt1 cyclin T1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9698426|PMID:20828602 20150213 RGD mRNA,protein:decreased expression:liver: 1311153 Ankrd45 ankyrin repeat domain 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606657 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311153 Ankrd45 ankyrin repeat domain 45 gene DOID:3755 antithrombin III deficiency ISO RGD:1606657 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1311153 Ankrd45 ankyrin repeat domain 45 gene DOID:630 genetic disease ISO RGD:1606657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311153 Ankrd45 ankyrin repeat domain 45 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1311153 Ankrd45 ankyrin repeat domain 45 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1311153 Ankrd45 ankyrin repeat domain 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606657 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0090033 myoclonic dystonia ISO RGD:1353287 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:7240710 20170308 OMIM 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25741868|PMID:25983243|PMID:28492532|PMID:9536098 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311154 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:630 genetic disease ISO RGD:1353287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311155 Il33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:40400713|PMID:23148283 20201103 RGD protein:increased expression:brain: 1311155 Il33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:40400715|PMID:24076431 20201103 RGD 1311155 Il33 interleukin 33 gene DOID:0050589 inflammatory bowel disease severity ISO RGD:1322461 D RGD:39938952|PMID:24491821 20201015 RGD 1311155 Il33 interleukin 33 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1322461 D RGD:39938972|PMID:25193287 20201016 RGD 1311155 Il33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322461 D RGD:39939041|PMID:28423665 20201023 RGD 1311155 Il33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322462 D RGD:40400694|PMID:23172891 20201030 RGD 1311155 Il33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1322462 D RGD:40400894|PMID:32156806 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis treatment ISO RGD:1322462 D RGD:40400894|PMID:32156806 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:0060496 respiratory allergy treatment ISO RGD:1322462 D RGD:40400692|PMID:25424936 20201030 RGD 1311155 Il33 interleukin 33 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1322461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1311155 Il33 interleukin 33 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1322462 D RGD:11343232|PMID:26518437 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: 1311155 Il33 interleukin 33 gene DOID:10230 aortic atherosclerosis ISO RGD:1322461 D RGD:267986209|PMID:31043075 20230418 RGD protein:increased expression:artery: 1311155 Il33 interleukin 33 gene DOID:10283 prostate cancer ISO RGD:1322461 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311155 Il33 interleukin 33 gene DOID:10459 common cold ISO RGD:1322461 D RGD:38596342|PMID:28471975 20201023 RGD protein:increased expression:nasal mucus 1311155 Il33 interleukin 33 gene DOID:106 pleural tuberculosis ISO RGD:1322461 D RGD:39939042|PMID:23301222 20201023 RGD protein:increased expression:pleural fluid: 1311155 Il33 interleukin 33 gene DOID:10652 Alzheimer's disease ISS RGD:1322462 D RGD:13592920 20190418 MouseDO OMIM:608907 1311155 Il33 interleukin 33 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1322461 D RGD:40400702|PMID:25658420 20201102 RGD 1311155 Il33 interleukin 33 gene DOID:11339 pneumocystosis treatment ISO RGD:1322462 D RGD:40400892|PMID:21220696 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:11396 pulmonary edema ISO RGD:1322461 D RGD:11342349|PMID:26437894 20201102 RGD associated with Plasmodium falciparum malaria;protein:increased expression:lung 1311155 Il33 interleukin 33 gene DOID:11573 listeriosis treatment ISO RGD:1322462 D RGD:40400693|PMID:25577440 20201030 RGD 1311155 Il33 interleukin 33 gene DOID:12053 cryptococcosis ISO RGD:1322462 D RGD:38549345|PMID:27596810 20200827 RGD mRNA:increased expression:lung (mouse) 1311155 Il33 interleukin 33 gene DOID:12205 dengue disease severity ISO RGD:1322462 D RGD:39938828|PMID:30098206 20201013 RGD 1311155 Il33 interleukin 33 gene DOID:12365 malaria ISO RGD:1322462 D RGD:39938859|PMID:28359899 20201014 RGD protein:increased expression:serum: 1311155 Il33 interleukin 33 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:1322461 D RGD:39938858|PMID:28992214 20201014 RGD 1311155 Il33 interleukin 33 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1322462 D RGD:11342984|PMID:26044350 20201104 RGD 1311155 Il33 interleukin 33 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1322462 D RGD:39939029|PMID:28771101 20201021 RGD 1311155 Il33 interleukin 33 gene DOID:13189 gout ISO RGD:1322461 D RGD:40400717|PMID:30863362 20201103 RGD 1311155 Il33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322461 D RGD:39939001|PMID:26944417 20201019 RGD protein:increased expression:serum: 1311155 Il33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322462 D RGD:39939001|PMID:26944417 20201019 RGD mRNA,protein:increased expression:liver, serum: 1311155 Il33 interleukin 33 gene DOID:1395 schistosomiasis ISO RGD:1322462 D RGD:39938854|PMID:29554131 20201014 RGD mRNA,protein:increased expression:liver 1311155 Il33 interleukin 33 gene DOID:14069 cerebral malaria ISO RGD:1322462 D RGD:40400741|PMID:25682948 20201104 RGD protein:increased expression:brain 1311155 Il33 interleukin 33 gene DOID:14069 cerebral malaria treatment ISO RGD:1322462 D RGD:39938955|PMID:25659095 20201015 RGD 1311155 Il33 interleukin 33 gene DOID:1508 candidiasis treatment ISO RGD:1322461 D RGD:40400896|PMID:22661085 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:219 colon cancer treatment IEP D RGD:39939040|PMID:31407335 20201023 RGD associated with colitis; 1311155 Il33 interleukin 33 gene DOID:2841 asthma ISO RGD:1322461 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21804549|PMID:24241537|PMID:27472835|PMID:29067999 1311155 Il33 interleukin 33 gene DOID:2841 asthma severity ISO RGD:1322461 D RGD:39938968|PMID:25746970 20201016 RGD associated with fungal infectious disease 1311155 Il33 interleukin 33 gene DOID:2841 asthma treatment ISO RGD:1322462 D RGD:39939002|PMID:28947081 20201019 RGD associated with viral pneumonia; 1311155 Il33 interleukin 33 gene DOID:2957 pulmonary tuberculosis ISO RGD:1322462 D RGD:39938965|PMID:28128217 20201016 RGD 1311155 Il33 interleukin 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1322462 D RGD:40400740|PMID:30952808 20201104 RGD mRNA,protein:increased expression:lung: 1311155 Il33 interleukin 33 gene DOID:3310 atopic dermatitis ISO RGD:1322461 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 1311155 Il33 interleukin 33 gene DOID:399 tuberculosis ISO RGD:1322461 D RGD:40400701|PMID:25755791 20201102 RGD associated with Pleural Effusion;protein:increased expression:pleural biopsy 1311155 Il33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322461 D RGD:40400690|PMID:31053540 20201030 RGD 1311155 Il33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322462 D RGD:39938956|PMID:31200771 20201015 RGD associated with Schistosomiasis Japonica 1311155 Il33 interleukin 33 gene DOID:552 pneumonia ISO RGD:1322461 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 1311155 Il33 interleukin 33 gene DOID:557 kidney disease ISO RGD:1322461 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21949094 1311155 Il33 interleukin 33 gene DOID:630 genetic disease ISO RGD:1322461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311155 Il33 interleukin 33 gene DOID:646 viral encephalitis ISO RGD:1322462 D RGD:39457934|PMID:27334012 20201008 RGD mRNA,protein:increased expression:brain,F4/80+ cell 1311155 Il33 interleukin 33 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:1322461 D RGD:39938849|PMID:31491552 20201014 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) 1311155 Il33 interleukin 33 gene DOID:824 periodontitis ISO RGD:1322462 D RGD:39938855|PMID:25808546 20201014 RGD associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia 1311155 Il33 interleukin 33 gene DOID:824 periodontitis severity ISO RGD:1322462 D RGD:39938855|PMID:25808546 20201014 RGD associated with Gram-Negative Bacterial Infections; 1311155 Il33 interleukin 33 gene DOID:8469 influenza ISO RGD:1322462 D RGD:40400699|PMID:28401938 20201102 RGD 1311155 Il33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322461 D RGD:39939003|PMID:26872602 20201019 RGD protein:increased expression:skin 1311155 Il33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322462 D RGD:39939003|PMID:26872602 20201019 RGD protein:increased expression:skin 1311155 Il33 interleukin 33 gene DOID:8577 ulcerative colitis ISO RGD:1322461 D RGD:39938951|PMID:25112700 20201015 RGD mRNA:increased expression:sigmoid colon 1311155 Il33 interleukin 33 gene DOID:8577 ulcerative colitis severity ISO RGD:1322461 D RGD:40813742|PMID:21037074 20201109 RGD 1311155 Il33 interleukin 33 gene DOID:8577 ulcerative colitis treatment ISO RGD:1322462 D RGD:39938966|PMID:28802904 20201016 RGD 1311155 Il33 interleukin 33 gene DOID:883 parasitic helminthiasis infectious disease treatment ISO RGD:1322462 D RGD:39939026|PMID:25912172 20201021 RGD 1311155 Il33 interleukin 33 gene DOID:9000099 Experimental Colitis severity ISO RGD:1322462 D RGD:39938951|PMID:25112700 20201015 RGD 1311155 Il33 interleukin 33 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1322462 D RGD:39939041|PMID:28423665 20201023 RGD 1311155 Il33 interleukin 33 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1322462 D RGD:40400900|PMID:28041873 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:9001004 Chronic Periodontitis ISO RGD:1322461 D RGD:39938855|PMID:25808546 20201014 RGD mRNA,protein:increased expression:gingiva 1311155 Il33 interleukin 33 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1322462 D RGD:40400699|PMID:28401938 20201102 RGD mRNA:increased expression:lung: 1311155 Il33 interleukin 33 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322461 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311155 Il33 interleukin 33 gene DOID:9002211 Hyperalgesia IMP D RGD:40400909|PMID:29329586 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1322461 D RGD:39939027|PMID:22590860 20201021 RGD protein:increased expression:serum 1311155 Il33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1322462 D RGD:40400890|PMID:25944738 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1322462 D RGD:40400890|PMID:25944738 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:9002457 Experimental Arthritis ISO RGD:1322461 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 1311155 Il33 interleukin 33 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1322461 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 1311155 Il33 interleukin 33 gene DOID:9002992 Nematode Infections ISO RGD:1322462 D RGD:40400742|PMID:22331917 20201104 RGD associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung 1311155 Il33 interleukin 33 gene DOID:9003369 Strongylida Infections ISO RGD:1322462 D RGD:40400742|PMID:22331917 20201104 RGD mRNA:increased expression:lung 1311155 Il33 interleukin 33 gene DOID:9003603 Hemolysis ISO RGD:1322461 D RGD:40400691|PMID:26107423 20201030 RGD associated with sickle cell anemia;protein:increased expression:plasma: 1311155 Il33 interleukin 33 gene DOID:9003936 Cardiomegaly ISO RGD:1322462 D RGD:40813740|PMID:17492053 20201109 RGD protein:increased expression:cardiomyocyte 1311155 Il33 interleukin 33 gene DOID:9003936 Cardiomegaly treatment IDA D RGD:40813740|PMID:17492053 20201109 RGD 1311155 Il33 interleukin 33 gene DOID:9004036 Superinfection ISO RGD:1322462 D RGD:40400699|PMID:28401938 20201102 RGD influenza and Pneumonia, Staphylococcal 1311155 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322461 D RGD:40400895|PMID:29935165 20201105 RGD protein:increased expression:plasma: 1311155 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:39939028|PMID:29672927 20201022 RGD protein:increased expression:plasma,lung 1311155 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:40400895|PMID:29935165 20201105 RGD protein:increased expression:plasma, peritoneal fluid: 1311155 Il33 interleukin 33 gene DOID:9004484 Sepsis severity ISO RGD:1322461 D RGD:40400739|PMID:25665614 20201104 RGD 1311155 Il33 interleukin 33 gene DOID:9004531 Cardiovirus Infections ISO RGD:1322462 D RGD:40400716|PMID:18552204 20201103 RGD mRNA:increased expression:brain: 1311155 Il33 interleukin 33 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1322462 D RGD:39938968|PMID:25746970 20201016 RGD protein:increased expression:lung 1311155 Il33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:1322462 D RGD:40400893|PMID:23892028 20201105 RGD mRNA,protein:increased expression:skin 1311155 Il33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:1322462 D RGD:40400893|PMID:23892028 20201105 RGD 1311155 Il33 interleukin 33 gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:40400909|PMID:29329586 20201105 RGD protein:increased expression:spinal cord: 1311155 Il33 interleukin 33 gene DOID:9006535 Hookworm Infections ISO RGD:1322462 D RGD:39938827|PMID:22329990 20201013 RGD mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage 1311155 Il33 interleukin 33 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1322461 D RGD:38596342|PMID:28471975 20201023 RGD protein:increased expression:nasal mucus 1311155 Il33 interleukin 33 gene DOID:9007417 Pseudomonas Infections ISO RGD:1322462 D RGD:40400699|PMID:28401938 20201102 RGD mRNA:increased expression:lung: 1311155 Il33 interleukin 33 gene DOID:9008114 Helicobacter Infections ISO RGD:1322461 D RGD:39939030|PMID:31320834 20201021 RGD mRNA:increased expression:stomach 1311155 Il33 interleukin 33 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1322461 D RGD:39938849|PMID:31491552 20201014 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) 1311155 Il33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1322461 D RGD:39457933|PMID:27180842 20201008 RGD 1311155 Il33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1322462 D RGD:39938954|PMID:25714983 20201015 RGD 1311155 Il33 interleukin 33 gene DOID:9351 diabetes mellitus IEP D RGD:40400904|PMID:28412870 20201105 RGD protein:increased expression:serum,ovary 1311155 Il33 interleukin 33 gene DOID:9408 acute myocardial infarction IEP D RGD:40813741|PMID:24837094 20201109 RGD 1311155 Il33 interleukin 33 gene DOID:9778 irritable bowel syndrome severity ISO RGD:1322461 D RGD:40400694|PMID:23172891 20201030 RGD 1311157 Cilp2 cartilage intermediate layer protein 2 gene DOID:630 genetic disease ISO RGD:1322465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:0050871 fibroma IMP D RGD:9586716|PMID:18456653 20141002 RGD 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1322467 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:25741868 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:7240710 20150304 OMIM 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome PMID:25561519|PMID:25741868|PMID:27748960|PMID:28492532 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1322467 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:1059 intellectual disability ISO RGD:1322467 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1322467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25561519|PMID:25741868|PMID:28492532|PMID:33645901 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:9003936 Cardiomegaly ISO RGD:1322468 D RGD:9686423|PMID:18420946 20150206 RGD 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1322467 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 1311158 Brf1 BRF1, RNA polymerase III transcription initiation factor subunit gene DOID:9256 colorectal cancer ISO RGD:1322467 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:0060041 autism spectrum disorder ISO RGD:1322469 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322469 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:10283 prostate cancer disease_progression ISO RGD:1322469 D RGD:2315611|PMID:7624992 20100105 RGD mRNA:increased expression:prostate gland 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:10763 hypertension IEP D RGD:5509789|PMID:16445702 20091023 RGD mRNA:decreased expression:medulla oblongata 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:11054 urinary bladder cancer ISO RGD:1322469 D RGD:2315608|PMID:14532840 20100105 RGD protein:increased expression:urinary bladder 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:12177 common variable immunodeficiency ISO RGD:1322469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:1612 breast cancer disease_progression ISO RGD:1322469 D RGD:2315607|PMID:19282568 20100105 RGD mRNA:increased expression:breast 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:2729 dyskeratosis congenita ISO RGD:1322469 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:37 skin disease ISO RGD:1322469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:4450 renal cell carcinoma ISO RGD:1322469 D RGD:2315610|PMID:14654968 20100105 RGD protein:increased expression:kidney 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:574 peripheral nervous system disease ISO RGD:1322469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:6000 congestive heart failure IEP D RGD:5509787|PMID:15623566 20111103 RGD 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:630 genetic disease ISO RGD:1322469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:8577 ulcerative colitis ISO RGD:1322469 D RGD:5509621|PMID:7679252 20111101 RGD protein:increased expression:large intestine epithelium 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:8778 Crohn's disease ISO RGD:1322469 D RGD:5509621|PMID:7679252 20111101 RGD protein:increased expression:large intestine epithelium 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:8893 psoriasis ISO RGD:1322469 D RGD:5509788|PMID:8304420 20111103 RGD protein:increased expression:keratinocyte 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9001472 Nasal Polyps ISO RGD:1322469 D RGD:5509597|PMID:20554417 20111031 RGD mRNA:decreased expression:nasal cavity epithelium 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9001542 Albuminuria ISO RGD:1322469 D RGD:2313875|PMID:18640486 20091023 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9002211 Hyperalgesia ISO RGD:1322469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9003730 Chemical Burns ISO RGD:1322469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9004009 Reperfusion Injury IEP D RGD:5509617|PMID:15518705 20111101 RGD 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9004207 Testicular Neoplasms ISO RGD:1322469 D RGD:2315609|PMID:14767568 20100105 RGD protein:increased expression:testis 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9005172 Lung Neoplasms ISO RGD:1322470 D RGD:2313872|PMID:7511046 20091023 RGD 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9006182 Carotid Artery Injuries IEP D RGD:5509614|PMID:16118253 20111101 RGD 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9007482 Bone Metastasis ISO RGD:1322469 D RGD:1578303|PMID:14669797 19990101 RGD associated with Prostatic Neoplasms; 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322469 D RGD:2313877|PMID:9500559 20091023 RGD protein:decreased activity:platelet (human) 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9970 obesity IEP D RGD:5509594|PMID:20978234 20111031 RGD mRNA:increased expression:adipose tissue, fat cell 1311159 Alox12 arachidonate 12-lipoxygenase, 12S type gene DOID:9970 obesity ISO RGD:1322470 D RGD:5509628|PMID:18780776 20111101 RGD 1311160 Nek7 NIMA-related kinase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1322471 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311160 Nek7 NIMA-related kinase 7 gene DOID:630 genetic disease ISO RGD:1322471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311160 Nek7 NIMA-related kinase 7 gene DOID:9004657 Weight Gain ISO RGD:1322471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1311160 Nek7 NIMA-related kinase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322471 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1605068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:7240710 20150805 OMIM 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:21228277|PMID:2389793|PMID:25741868|PMID:26428751|PMID:28492532|PMID:28892125 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:1059 intellectual disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:10907 microcephaly ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:12849 autistic disorder ISO RGD:1605068 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605068 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:1826 epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:2234 focal epilepsy ISO RGD:1605068 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1605068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:7240710 20190724 OMIM 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:21228277|PMID:25741868|PMID:28892125|PMID:32755715 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:1605068 D RGD:7240710 20220921 OMIM 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605068 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 1311161 Ufsp2 UFM1-specific peptidase 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1605068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1311162 Fam20b FAM20B, glycosaminoglycan xylosylkinase gene DOID:1540 parathyroid carcinoma ISO RGD:1322474 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311162 Fam20b FAM20B, glycosaminoglycan xylosylkinase gene DOID:630 genetic disease ISO RGD:1322474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311162 Fam20b FAM20B, glycosaminoglycan xylosylkinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322474 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1311162 Fam20b FAM20B, glycosaminoglycan xylosylkinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322474 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311163 Cdc14b cell division cycle 14B gene DOID:1059 intellectual disability ISO RGD:1322476 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: intellectual disabilities 1311163 Cdc14b cell division cycle 14B gene DOID:4450 renal cell carcinoma severity ISO RGD:1322476 D RGD:10059341|PMID:24619757 20150813 RGD mRNA:decreased expression:kidney: 1311163 Cdc14b cell division cycle 14B gene DOID:630 genetic disease ISO RGD:1322476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311163 Cdc14b cell division cycle 14B gene DOID:9002644 Premature Aging ISO RGD:1322477 D RGD:10059338|PMID:21262768 20150813 RGD 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:0050989 episodic ataxia type 1 ISO RGD:1322478 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:7240710 20190315 OMIM 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25558065|PMID:25741868|PMID:27311568|PMID:28097321|PMID:31334606 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:1059 intellectual disability ISO RGD:1322478 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25558065|PMID:27311568 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1322478 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25558065|PMID:27311568 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:630 genetic disease ISO RGD:1322478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:9005603 Muscle Hypotonia ISO RGD:1322478 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25558065|PMID:27311568 1311164 RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322478 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1311165 Dhx35 DEAH-box helicase 35 gene DOID:2234 focal epilepsy ISO RGD:1322480 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1311165 Dhx35 DEAH-box helicase 35 gene DOID:630 genetic disease ISO RGD:1322480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311167 Tspan17 tetraspanin 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1311167 Tspan17 tetraspanin 17 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1311167 Tspan17 tetraspanin 17 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1311167 Tspan17 tetraspanin 17 gene DOID:630 genetic disease ISO RGD:1346680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311167 Tspan17 tetraspanin 17 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346680 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311167 Tspan17 tetraspanin 17 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1346680 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1311168 Gemin6 gem (nuclear organelle) associated protein 6 gene DOID:0080690 RASopathy ISO RGD:1322484 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1311168 Gemin6 gem (nuclear organelle) associated protein 6 gene DOID:3883 Lynch syndrome ISO RGD:1322484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1311168 Gemin6 gem (nuclear organelle) associated protein 6 gene DOID:630 genetic disease ISO RGD:1322484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311170 Aktip AKT interacting protein gene DOID:630 genetic disease ISO RGD:1322487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311170 Aktip AKT interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311172 Pate4 prostate and testis expressed 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1311172 Pate4 prostate and testis expressed 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2302529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311172 Pate4 prostate and testis expressed 4 gene DOID:5419 schizophrenia ISO RGD:2302529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311172 Pate4 prostate and testis expressed 4 gene DOID:630 genetic disease ISO RGD:2302529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311172 Pate4 prostate and testis expressed 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2302529 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311172 Pate4 prostate and testis expressed 4 gene DOID:9007661 Dwarfism ISO RGD:2302529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311173 Dido1 death inducer-obliterator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311173 Dido1 death inducer-obliterator 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1311173 Dido1 death inducer-obliterator 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311173 Dido1 death inducer-obliterator 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1322490 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1311173 Dido1 death inducer-obliterator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311173 Dido1 death inducer-obliterator 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322490 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1311173 Dido1 death inducer-obliterator 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322490 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 1311173 Dido1 death inducer-obliterator 1 gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISS RGD:30309588 D RGD:13592920 20200702 MouseDO 1311173 Dido1 death inducer-obliterator 1 gene DOID:630 genetic disease ISO RGD:1322490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311174 Zic2 Zic family member 2 gene DOID:0080074 neural tube defect ISO RGD:1322491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 1311174 Zic2 Zic family member 2 gene DOID:0080074 neural tube defect ISO RGD:1322491 D RGD:1331525|PMID:15118671 19990101 GAD 1311174 Zic2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:7240710 20130425 OMIM 1311174 Zic2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:11285244|PMID:15590697|PMID:17274816|PMID:17576681|PMID:19177455|PMID:19955556|PMID:21638761|PMID:21940735|PMID:21990207|PMID:22847929|PMID:25741868|PMID:28492532|PMID:29770992|PMID:29992659|PMID:32022405|PMID:9536098|PMID:9771712 1311174 Zic2 Zic family member 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1322491 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:22859937 1311174 Zic2 Zic family member 2 gene DOID:14701 propionic acidemia ISO RGD:1322491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1311174 Zic2 Zic family member 2 gene DOID:1561 cognitive disorder ISO RGD:1322492 D RGD:11561947|PMID:22355535 20161114 RGD 1311174 Zic2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322491 D RGD:11561949|PMID:22847929 20161114 RGD DNA:deletion, duplication, frameshift, transition mutations:cds,intron: 1311174 Zic2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322491 D RGD:11561954|PMID:9771712 20161114 RGD DNA:insertion,deletion mutations:cds: 1311174 Zic2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322491 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly PMID:25741868 1311174 Zic2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322492 D RGD:11561948|PMID:18617531 20161114 RGD 1311174 Zic2 Zic family member 2 gene DOID:5419 schizophrenia ISS RGD:1322492 D RGD:13592920 20180518 MouseDO OMIM:181500 1311174 Zic2 Zic family member 2 gene DOID:630 genetic disease ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15221788|PMID:15590697|PMID:19177455|PMID:25741868|PMID:25954003|PMID:27466203|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29992973|PMID:32022405 1311174 Zic2 Zic family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322491 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311174 Zic2 Zic family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 1311174 Zic2 Zic family member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1322491 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1311174 Zic2 Zic family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322491 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311175 Zkscan5 zinc finger with KRAB and SCAN domains 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322493 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311175 Zkscan5 zinc finger with KRAB and SCAN domains 5 gene DOID:630 genetic disease ISO RGD:1322493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311176 Papln papilin, proteoglycan-like sulfated glycoprotein gene DOID:1059 intellectual disability ISO RGD:1322495 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1311176 Papln papilin, proteoglycan-like sulfated glycoprotein gene DOID:630 genetic disease ISO RGD:1322495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311177 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1604192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 1311177 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:2717 Bloom syndrome ISO RGD:1604192 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311177 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1604192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311177 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:9256 colorectal cancer ISO RGD:1604192 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311180 Mrpl38 mitochondrial ribosomal protein L38 gene DOID:630 genetic disease ISO RGD:1322502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311181 Zfp385b zinc finger protein 385B gene DOID:630 genetic disease ISO RGD:1322504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311182 Sephs1 selenophosphate synthetase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322506 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1311182 Sephs1 selenophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:1322506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317598 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:16648375|PMID:25741868|PMID:28492532 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12730828|PMID:15154116|PMID:17990063 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:7240710 20130724 OMIM 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:11169562|PMID:12730828|PMID:15141358|PMID:15154116|PMID:15173253|PMID:15211651|PMID:15498460|PMID:15691367|PMID:15918062|PMID:16199547|PMID:16648375|PMID:16917849|PMID:17383910|PMID:17576681|PMID:17786118|PMID:17990063|PMID:18414213|PMID:18655112|PMID:19006247|PMID:19190672|PMID:19533689|PMID:19763152|PMID:20307669|PMID:20461111|PMID:20656880|PMID:20683995|PMID:20921020|PMID:21330571|PMID:21659346|PMID:21865173|PMID:22382802|PMID:22406018|PMID:22527104|PMID:22700954|PMID:22855652|PMID:23033978|PMID:23188044|PMID:23352163|PMID:23757202|PMID:24033266|PMID:24311531|PMID:24334746|PMID:24334764|PMID:25060287|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25533962|PMID:25640679|PMID:25741868|PMID:26104215|PMID:26133662|PMID:26395554|PMID:26443248|PMID:26467025|PMID:26539891|PMID:26938784|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27533158|PMID:27829003|PMID:28041643|PMID:28057753|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28631888|PMID:28832562|PMID:29149870|PMID:29431110|PMID:29453417|PMID:29634382|PMID:29706646|PMID:29758347|PMID:30138938|PMID:30290665|PMID:30792901|PMID:30843084|PMID:31580008|PMID:31736247|PMID:31943017|PMID:31965297|PMID:32170714|PMID:32384097|PMID:32505691|PMID:32581362|PMID:32860008|PMID:32919079|PMID:32959227|PMID:33023636|PMID:33025479|PMID:33217554|PMID:34353225|PMID:9536098 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:10584 retinitis pigmentosa ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:26467025|PMID:28492532 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:1059 intellectual disability ISO RGD:1317598 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:10907 microcephaly ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:11830 myopia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:15141358|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:28492532|PMID:32581362 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:5419 schizophrenia ISO RGD:1317598 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:630 genetic disease ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15141358|PMID:15154116|PMID:15211651|PMID:15918062|PMID:16648375|PMID:17383910|PMID:17576681|PMID:17990063|PMID:18414213|PMID:19006247|PMID:20461111|PMID:20683995|PMID:20921020|PMID:21659346|PMID:22382802|PMID:22527104|PMID:23033978|PMID:23352163|PMID:23757202|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25741868|PMID:26133662|PMID:26443248|PMID:26467025|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27829003|PMID:28057753|PMID:28492532|PMID:29758347|PMID:30792901|PMID:30843084|PMID:31736247|PMID:31943017|PMID:32384097|PMID:9536098 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:83 cataract ISS RGD:1322508 D RGD:13592920 20201105 MouseDO OMIM:601371 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:8501 fundus dystrophy ISO RGD:1317598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9006534 Nervous System Malformations ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15141358|PMID:16648375|PMID:20461111|PMID:20656880|PMID:25741868|PMID:28492532 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1317598 D RGD:9068941 20200609 RGD Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation PMID:12730828|REF_RGD_ID:1357205 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9007661 Dwarfism ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9008086 Developmental Disabilities ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15141358|PMID:15173253|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:25741868|PMID:28492532|PMID:32581362 1311183 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9008296 Eye Abnormalities ISO RGD:1317598 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15141358|PMID:16648375|PMID:20461111|PMID:26395554|PMID:28041643|PMID:28492532|PMID:29149870 1311184 Slc22a15 solute carrier family 22, member 15 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 1311184 Slc22a15 solute carrier family 22, member 15 gene DOID:630 genetic disease ISO RGD:1322509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311184 Slc22a15 solute carrier family 22, member 15 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1311185 Sh3pxd2a SH3 and PX domains 2A gene DOID:0060224 atrial fibrillation ISO RGD:1322510 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28416822 1311185 Sh3pxd2a SH3 and PX domains 2A gene DOID:630 genetic disease ISO RGD:1322510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311185 Sh3pxd2a SH3 and PX domains 2A gene DOID:9007096 Stroke ISO RGD:1322510 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1311186 Fuom fucose mutarotase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1322512 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1311186 Fuom fucose mutarotase gene DOID:630 genetic disease ISO RGD:1322512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311188 Zfp707 zinc finger protein 707 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:36174119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1311188 Zfp707 zinc finger protein 707 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:36174119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1311188 Zfp707 zinc finger protein 707 gene DOID:4621 holoprosencephaly ISO RGD:36174119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1311188 Zfp707 zinc finger protein 707 gene DOID:630 genetic disease ISO RGD:36174119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311189 Zzef1 zinc finger ZZ-type and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1322516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311190 Ptx4 pentraxin 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1311190 Ptx4 pentraxin 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 1311190 Ptx4 pentraxin 4 gene DOID:1826 epilepsy ISO RGD:1605189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1311190 Ptx4 pentraxin 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605189 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311190 Ptx4 pentraxin 4 gene DOID:630 genetic disease ISO RGD:1605189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311191 Itga9 integrin subunit alpha 9 gene DOID:0050451 Brugada syndrome ISO RGD:1322518 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1311191 Itga9 integrin subunit alpha 9 gene DOID:0060646 congenital chylothorax ISS RGD:1322519 D RGD:13592920 20180518 MouseDO OMIM:603523 1311191 Itga9 integrin subunit alpha 9 gene DOID:10763 hypertension susceptibility ISO RGD:1322518 D RGD:13602005|PMID:20479155 20180529 RGD DNA:SNP: :rs155524(human) 1311191 Itga9 integrin subunit alpha 9 gene DOID:1793 pancreatic cancer ISO RGD:1322518 D RGD:5490966|PMID:18772397 20140724 RGD DNA:mutations:exon 1311191 Itga9 integrin subunit alpha 9 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1322518 D RGD:13602007|PMID:21764681 20180529 RGD DNA:SNPs,haplotype:rs189897,rs2212020(human) 1311191 Itga9 integrin subunit alpha 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322518 D RGD:153350086|PMID:22491060 20220906 RGD mRNA:decreased expression:lung (human) 1311191 Itga9 integrin subunit alpha 9 gene DOID:630 genetic disease ISO RGD:1322518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311191 Itga9 integrin subunit alpha 9 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322518 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1311192 Map3k4 mitogen activated protein kinase kinase kinase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1311192 Map3k4 mitogen activated protein kinase kinase kinase 4 gene DOID:2154 nephroblastoma ISO RGD:1322520 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1311192 Map3k4 mitogen activated protein kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1322520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311192 Map3k4 mitogen activated protein kinase kinase kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 1311195 Lyplal1 lysophospholipase-like 1 gene DOID:0050439 Usher syndrome ISO RGD:1322525 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1311195 Lyplal1 lysophospholipase-like 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1311195 Lyplal1 lysophospholipase-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311195 Lyplal1 lysophospholipase-like 1 gene DOID:630 genetic disease ISO RGD:1322525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311195 Lyplal1 lysophospholipase-like 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 1311195 Lyplal1 lysophospholipase-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322525 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311196 Tdrkh tudor and KH domain containing gene DOID:0111940 immunodeficiency 42 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311196 Tdrkh tudor and KH domain containing gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311196 Tdrkh tudor and KH domain containing gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1322527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311196 Tdrkh tudor and KH domain containing gene DOID:12377 spinal muscular atrophy ISO RGD:1322527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:30503856 1311196 Tdrkh tudor and KH domain containing gene DOID:14227 azoospermia ISO RGD:1322527 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1311196 Tdrkh tudor and KH domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:1322527 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311196 Tdrkh tudor and KH domain containing gene DOID:5812 MHC class II deficiency ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311196 Tdrkh tudor and KH domain containing gene DOID:630 genetic disease ISO RGD:1322527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311196 Tdrkh tudor and KH domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322527 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322529 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:7240710 20140911 OMIM 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 2 PMID:23738509|PMID:25741868|PMID:26431553|PMID:28672280 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:12849 autistic disorder ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:1932 Angelman syndrome ISO RGD:1322529 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:5419 schizophrenia ISO RGD:1322529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:630 genetic disease ISO RGD:1322529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322529 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311197 Mkrn3 makorin, ring finger protein, 3 gene DOID:9007284 Precocious Puberty ISO RGD:1322529 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:23738509 1311198 Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604583 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1311198 Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311198 Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1604583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311199 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322532 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1311199 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:37 skin disease ISO RGD:1322532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311199 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311199 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322532 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 1311199 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311199 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322532 D RGD:152995405|PMID:33470690 20220617 RGD DNA:SNP:exon: (rs329497) (human) 1311203 Pik3ip1 phosphoinositide-3-kinase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311203 Pik3ip1 phosphoinositide-3-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1605305 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1311205 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311205 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:1059 intellectual disability ISO RGD:1322541 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311205 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311205 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:2746 glycogen storage disease V ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311205 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:3070 high grade glioma ISO RGD:1322541 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311205 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1322541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311206 Gas2l1 growth arrest-specific 2 like 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1322543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1311206 Gas2l1 growth arrest-specific 2 like 1 gene DOID:630 genetic disease ISO RGD:1322543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311206 Gas2l1 growth arrest-specific 2 like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1311206 Gas2l1 growth arrest-specific 2 like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1322543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1311208 Rbm17 RNA binding motif protein 17 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322546 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1311208 Rbm17 RNA binding motif protein 17 gene DOID:5419 schizophrenia ISO RGD:1322546 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311208 Rbm17 RNA binding motif protein 17 gene DOID:630 genetic disease ISO RGD:1322546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311208 Rbm17 RNA binding motif protein 17 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1322548 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:28492532 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:10283 prostate cancer ISO RGD:1322548 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:10763 hypertension ISO RGD:1322549 D RGD:1580958|PMID:16530041 19990101 RGD 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:630 genetic disease ISO RGD:1322548 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26462740 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:9000162 Distal Hereditary Motor Neuronopathy Type 10 ISO RGD:1322548 D RGD:7240710 20221102 OMIM 1311209 Emilin1 elastin microfibril interfacer 1 gene DOID:9000162 Distal Hereditary Motor Neuronopathy Type 10 ISO RGD:1322548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type X PMID:26462740|PMID:31978608 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606794 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606794 D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:12849 autistic disorder ISO RGD:1606794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17503474|PMID:18621663 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:12849 autistic disorder ISO RGD:1606794 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:23286373|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28346479|PMID:28492532|PMID:29358611|PMID:31602316|PMID:31780880|PMID:9536098 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606794 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:5419 schizophrenia ISO RGD:1606794 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:630 genetic disease ISO RGD:1606794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311210 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:9256 colorectal cancer ISO RGD:1606794 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:7240710 20140911 OMIM 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: Psoriasis 14, pustular PMID:16199547|PMID:17576681|PMID:19494218|PMID:21792839|PMID:21839423|PMID:21848462|PMID:22428995|PMID:22903787|PMID:22940634|PMID:23303454|PMID:23358093|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23834760|PMID:23863864|PMID:24019411|PMID:24033266|PMID:24898045|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25615897|PMID:25741868|PMID:25989471|PMID:26100510|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27096382|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:29665114|PMID:29892664|PMID:30036598|PMID:30609409|PMID:30953287|PMID:33729564|PMID:34339530|PMID:9536098 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:289 endometriosis ISO RGD:1322552 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:630 genetic disease ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:8893 psoriasis ISO RGD:1322552 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 1311212 Il36rn interleukin 36 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210513 RGD 1311213 Dnai7 dynein axonemal intermediate chain 7 gene DOID:1324 lung cancer ameliorates ISO RGD:1617228 D RGD:152998907|PMID:14583591 20220701 RGD DNA:missense mutation:CDS:p.N60S (mouse) 1311213 Dnai7 dynein axonemal intermediate chain 7 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1617228 D RGD:152998908|PMID:24860162 20220701 RGD 1311213 Dnai7 dynein axonemal intermediate chain 7 gene DOID:630 genetic disease ISO RGD:1322554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311213 Dnai7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1322554 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 1311213 Dnai7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1617228 D RGD:11340955|PMID:16862160 20220630 RGD 1311214 Smc6 structural maintenance of chromosomes 6 gene DOID:630 genetic disease ISO RGD:1322555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311215 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1322557 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1311215 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:1059 intellectual disability ISO RGD:1322557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311215 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:4621 holoprosencephaly ISO RGD:1322557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 1311215 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:543 dystonia ISO RGD:1322557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1311215 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:9000066 Jaw Abnormalities ISO RGD:1322557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 1311216 Gpatch3 G patch domain containing 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1347677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1311216 Gpatch3 G patch domain containing 3 gene DOID:630 genetic disease ISO RGD:1347677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311217 Vcl vinculin gene DOID:0050700 cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15331426|PMID:15769782|PMID:16236538|PMID:16712796|PMID:16783378|PMID:17785437|PMID:20301718|PMID:22421524|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:33012304|PMID:33302605 1311217 Vcl vinculin gene DOID:0060041 autism spectrum disorder ISO RGD:1322560 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311217 Vcl vinculin gene DOID:0060319 cardiac arrest ISO RGD:1322560 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 1311217 Vcl vinculin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 1311217 Vcl vinculin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 1311217 Vcl vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:7240710 20130425 OMIM 1311217 Vcl vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 PMID:11815424|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26458567|PMID:26735901|PMID:27503891|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33500567 1311217 Vcl vinculin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26191084|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29875424|PMID:31513939 1311217 Vcl vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:7240710 20130425 OMIM 1311217 Vcl vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:15331426|PMID:15769782|PMID:16199547|PMID:16236538|PMID:16712796|PMID:16783378|PMID:16949038|PMID:17097056|PMID:17576681|PMID:17785437|PMID:20301718|PMID:20474083|PMID:21681106|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25163546|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25500949|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:26735901|PMID:26776555|PMID:27503891|PMID:27532257|PMID:27930701|PMID:27957775|PMID:28087426|PMID:28087566|PMID:28218286|PMID:28492532|PMID:28611029|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:30923642|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33500567|PMID:9536098 1311217 Vcl vinculin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:24033266|PMID:24062880|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:32880476 1311217 Vcl vinculin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 PMID:16783378|PMID:20301718|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1311217 Vcl vinculin gene DOID:10487 Hirschsprung's disease ISO RGD:1322560 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:24033266|PMID:25741868|PMID:28492532 1311217 Vcl vinculin gene DOID:11476 osteoporosis ISO RGD:1322560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1311217 Vcl vinculin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:1580356|PMID:16236538 19990101 RGD 1311217 Vcl vinculin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16712796|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:33012304 1311217 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:1580356|PMID:16236538 19990101 RGD 1311217 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642 1311217 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 1311217 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16783378|PMID:16949038|PMID:17785437|PMID:20301718|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 1311217 Vcl vinculin gene DOID:2843 long QT syndrome ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1311217 Vcl vinculin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 1311217 Vcl vinculin gene DOID:6000 congestive heart failure ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:33500567 1311217 Vcl vinculin gene DOID:630 genetic disease ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311217 Vcl vinculin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322560 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction PMID:11815424|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 1311217 Vcl vinculin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1322560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1311217 Vcl vinculin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322560 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17785437|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26191084|PMID:28492532 1311217 Vcl vinculin gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 1311217 Vcl vinculin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1322560 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 1311218 Mgst2 microsomal glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1322562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311219 Emc8 ER membrane protein complex subunit 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1322563 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1311219 Emc8 ER membrane protein complex subunit 8 gene DOID:630 genetic disease ISO RGD:1322563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311220 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1311220 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1311220 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:607 paraplegia ISO RGD:1322565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1311220 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1322565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311221 Lrrc41 leucine rich repeat containing 41 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1607070 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma 1311221 Lrrc41 leucine rich repeat containing 41 gene DOID:5426 primary ovarian insufficiency ISO RGD:1607070 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1311221 Lrrc41 leucine rich repeat containing 41 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1607070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1311221 Lrrc41 leucine rich repeat containing 41 gene DOID:630 genetic disease ISO RGD:1607070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1311222 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1322567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311222 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:630 genetic disease ISO RGD:1322567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311222 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1311222 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1311222 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322567 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311223 Gk5 glycerol kinase 5 gene DOID:630 genetic disease ISO RGD:1606415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311225 Zc3h7a zinc finger CCCH type containing 7 A gene DOID:5419 schizophrenia ISO RGD:1322571 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311225 Zc3h7a zinc finger CCCH type containing 7 A gene DOID:630 genetic disease ISO RGD:1322571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1322573 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:29021403|PMID:29222009 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:11560583|PMID:27479907 20221103 RGD DNA:mutations: : 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:155631311|PMID:29021403 20221103 RGD DNA:Mutations:cds : 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:155631312|PMID:28807008 20221103 RGD DNA:Mutations:cds : 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:155641229|PMID:29393965 20221103 RGD DNA:mutations:cds: 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:7240710 20190315 OMIM 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:31238879 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:10283 prostate cancer ISO RGD:1322573 D RGD:155641232|PMID:33390186 20221103 RGD mRNA,protein:increased expression:prostate: 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:1322573 D RGD:155641232|PMID:33390186 20221103 RGD 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:1059 intellectual disability ISO RGD:1322573 D RGD:155631309|PMID:29222009 20221101 RGD DNA:Mutations: : 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:1059 intellectual disability ISO RGD:1322573 D RGD:155631311|PMID:29021403 20221101 RGD DNA:Mutations:cds : 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:1059 intellectual disability ISO RGD:1322573 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:13938 amenorrhea ISO RGD:1322573 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1322573 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:1612 breast cancer severity ISO RGD:1322573 D RGD:155641236|PMID:33292020 20221103 RGD 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:1826 epilepsy ISO RGD:1322573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322573 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:630 genetic disease ISO RGD:1322573 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:33004838 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:684 hepatocellular carcinoma onset ISO RGD:1322573 D RGD:155641228|PMID:22912832 20221102 RGD DNA:amplification: : 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 1311226 Cdk13 cyclin-dependent kinase 13 gene DOID:9008086 Developmental Disabilities ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741891|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322577 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080716 infantile liver failure syndrome ISO RGD:1322577 D RGD:25440486|PMID:19732863 20200419 RGD DNA:mutations:multiple 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:7240710 20130221 OMIM 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:17576681|PMID:19732863|PMID:21153446|PMID:21169334|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25326637|PMID:25665837|PMID:25741868|PMID:26633542|PMID:28049726|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30369941|PMID:30740308|PMID:31160058|PMID:33365252|PMID:33485800|PMID:8817331|PMID:9536098 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:7240710 20130221 OMIM 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of PMID:16199547|PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28049726|PMID:28492532|PMID:31160058|PMID:8817331 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:1059 intellectual disability ISO RGD:1322577 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:2843 long QT syndrome ISO RGD:1322577 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:409 liver disease ISS RGD:1619985 D RGD:13592920 20180518 MouseDO 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:630 genetic disease ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19732863|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25665837|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31160058 1311229 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:9004212 Mitochondrial Myopathy, Lethal Infantile ISO RGD:1322577 D RGD:21066346|PMID:23625533 20200419 RGD DNA:mutations:multiple 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344219 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:7240710 20130221 OMIM 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY PMID:16251947|PMID:18537974|PMID:25741868|PMID:28492532 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1344219 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1344219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal protein O-linked glycosylation PMID:25741868 1311230 C1galt1c1 C1GALT1-specific chaperone 1 gene DOID:630 genetic disease ISO RGD:1344219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1322580 D RGD:2300275|PMID:10713699 20080910 RGD 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1322580 D RGD:2300270|PMID:12452071 20080910 RGD 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1322580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17072339|PMID:28492532 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:7148 rheumatoid arthritis ISO RGD:1322580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19503088|PMID:20453842|PMID:23143596 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:8893 psoriasis ISO RGD:1322580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:8929 atrophic gastritis ISO RGD:1322581 D RGD:40902973|PMID:23975431 20201217 RGD associated with Helicobacter Infections 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:7240710 20211222 OMIM 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 92 PMID:31103457|PMID:34623332 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322581 D RGD:2300264|PMID:12897145 20080910 RGD 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000495 Tremor ISO RGD:1322580 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:31481676 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000831 Hypokinesia ISO RGD:1322580 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:31481676 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1322580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9008023 Memory Disorders ISO RGD:1322580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20477932 1311231 Rel REL proto-oncogene, NF-kB subunit gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322581 D RGD:40902978|PMID:25727407 20201218 RGD associated with Experimental Colitis 1311232 Svbp small vasohibin binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605525 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311232 Svbp small vasohibin binding protein gene DOID:10907 microcephaly ISO RGD:1605525 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30607023|PMID:31363758 1311232 Svbp small vasohibin binding protein gene DOID:630 genetic disease ISO RGD:1605525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311232 Svbp small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:7240710 20230104 OMIM 1311232 Svbp small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly PMID:25741868|PMID:30607023|PMID:31363758 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:2302834 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:630 genetic disease ISO RGD:2302834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:7240710 20190315 OMIM 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Camptosynpolydactyly, complex PMID:25741868|PMID:28492532 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:7240710 20150114 OMIM 1311234 Bhlha9 basic helix-loop-helix family, member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction PMID:15039974|PMID:25466284|PMID:25741868|PMID:28492532|PMID:9783716 1311235 Myl9 myosin light chain 9 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:21293372|PMID:25741868|PMID:29453416|PMID:33031641 1311235 Myl9 myosin light chain 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322585 D RGD:1582589|PMID:16076902 20061114 RGD 1311235 Myl9 myosin light chain 9 gene DOID:178 vascular disease ISO RGD:1322585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 1311235 Myl9 myosin light chain 9 gene DOID:2234 focal epilepsy ISO RGD:1322585 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1311235 Myl9 myosin light chain 9 gene DOID:4724 brain edema ISO RGD:1322585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17419808 1311235 Myl9 myosin light chain 9 gene DOID:630 genetic disease ISO RGD:1322585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311235 Myl9 myosin light chain 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311235 Myl9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:7240710 20210707 OMIM 1311235 Myl9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 PMID:21293372|PMID:25741868|PMID:33031641 1311236 Slc39a9 solute carrier family 39, member 9 gene DOID:630 genetic disease ISO RGD:1322587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311238 Ltn1 listerin E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311238 Ltn1 listerin E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322590 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311239 Pdcd6 programmed cell death 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322592 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1311239 Pdcd6 programmed cell death 6 gene DOID:630 genetic disease ISO RGD:1322592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311239 Pdcd6 programmed cell death 6 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1322592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1311240 Taar2 trace amine associated receptor 2 gene DOID:630 genetic disease ISO RGD:1606827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311241 Mier3 MIER family member 3 gene DOID:630 genetic disease ISO RGD:1605562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311241 Mier3 MIER family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605562 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311242 Slc35f2 solute carrier family 35, member F2 gene DOID:1059 intellectual disability ISO RGD:1344599 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311242 Slc35f2 solute carrier family 35, member F2 gene DOID:12704 ataxia telangiectasia ISO RGD:1344599 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311242 Slc35f2 solute carrier family 35, member F2 gene DOID:630 genetic disease ISO RGD:1344599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311242 Slc35f2 solute carrier family 35, member F2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344599 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311243 Dhrs7b dehydrogenase/reductase 7B gene DOID:630 genetic disease ISO RGD:1601764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311245 Rsf1 remodeling and spacing factor 1 gene DOID:1059 intellectual disability ISO RGD:1322599 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311245 Rsf1 remodeling and spacing factor 1 gene DOID:630 genetic disease ISO RGD:1322599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311247 Dlgap5 DLG associated protein 5 gene DOID:0080600 COVID-19 ISO RGD:1322602 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311247 Dlgap5 DLG associated protein 5 gene DOID:630 genetic disease ISO RGD:1322602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311247 Dlgap5 DLG associated protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1322602 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311249 Atosb atos homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1311249 Atosb atos homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1311249 Atosb atos homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:1322605 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1311249 Atosb atos homolog B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1322605 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1311249 Atosb atos homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1311249 Atosb atos homolog B gene DOID:630 genetic disease ISO RGD:1322605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311249 Atosb atos homolog B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1322605 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1311249 Atosb atos homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311249 Atosb atos homolog B gene DOID:9870 galactosemia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1311250 Slc35c2 solute carrier family 35 member C2 gene DOID:2234 focal epilepsy ISO RGD:1322607 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1311250 Slc35c2 solute carrier family 35 member C2 gene DOID:630 genetic disease ISO RGD:1322607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:0050746 mantle cell lymphoma ISO RGD:1603171 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:0050753 cerebellar ataxia ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:29909963|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:10534 stomach cancer ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15390180|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21792198|PMID:21933854|PMID:22017321|PMID:22071889|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23454770|PMID:23585524|PMID:23632773|PMID:23807571|PMID:25122203|PMID:25186627|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:27121310|PMID:27159176|PMID:27732944|PMID:27884168|PMID:27913932|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28724667|PMID:28767289|PMID:29482223|PMID:29600275|PMID:29665859|PMID:29667044|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30287823|PMID:30549301|PMID:30607632|PMID:30620386|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31263571|PMID:31691010|PMID:31784493|PMID:32002120|PMID:32068069|PMID:32471518|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32918381|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34873480|PMID:36988593|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9488043|PMID:9536098|PMID:9872980|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:1059 intellectual disability ISO RGD:1603171 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:1520 colon carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:17910737|PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:1781 thyroid gland cancer ISO RGD:1603171 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:12552559|PMID:12935922|PMID:14706517|PMID:15756685|PMID:18634022|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22585167|PMID:23807571|PMID:24728327|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:28007021|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31248605|PMID:31742824|PMID:31780696|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32936981|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:2871 endometrial carcinoma ISO RGD:1603171 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12810666|PMID:19781682|PMID:21787400|PMID:23555315|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:28492532|PMID:29659569|PMID:30651582|PMID:31159747|PMID:31920950|PMID:33436325|PMID:33558524 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:299 adenocarcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:36988593|PMID:9536098|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:3068 glioblastoma ISO RGD:1603171 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:25525159|PMID:25741868|PMID:26467025|PMID:9054948 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:3070 high grade glioma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:3459 breast carcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11805335|PMID:12810666|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16864838|PMID:17344846|PMID:17576681|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:20153123|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22585167|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:36988593|PMID:9536098|PMID:9622061|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:4450 renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:4905 pancreatic carcinoma ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:32295079|PMID:3338800|PMID:36988593|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:630 genetic disease ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:687 hepatoblastoma ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21665257|PMID:25186627|PMID:25741868|PMID:26787654|PMID:28492532|PMID:29522266|PMID:33471991 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9002928 Colonic Neoplasms ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1603171 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:28492532 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603171 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10330348|PMID:11382771|PMID:11826028|PMID:11830610|PMID:14654357|PMID:15174027|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:19823873|PMID:20301790|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:33509806|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9792410|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10023947|PMID:10330348|PMID:10416970|PMID:10571946|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11897822|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12673797|PMID:12673804|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12935922|PMID:12969974|PMID:14586414|PMID:14627829|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20966255|PMID:21150274|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22927201|PMID:22952040|PMID:23091097|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24088041|PMID:24172824|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24853695|PMID:24920063|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25122203|PMID:25148578|PMID:25151137|PMID:25186627|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27097373|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28093616|PMID:28120234|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28338653|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29371908|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29909963 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29954938|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30441849|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30927251|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31125277|PMID:31130284|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31741144|PMID:31742824|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32756499|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33608381|PMID:33630411|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35806449|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9256 colorectal cancer ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 1311251 C8h11orf65 similar to human chromosome 11 open reading frame 65 gene DOID:9460 uterine corpus cancer ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451 1311252 Hivep3 HIVEP zinc finger 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322610 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311252 Hivep3 HIVEP zinc finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322610 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1311252 Hivep3 HIVEP zinc finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322610 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311253 Spcs2 signal peptidase complex subunit 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1345346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1311253 Spcs2 signal peptidase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1345346 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311253 Spcs2 signal peptidase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1345346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311255 Ttll3 tubulin tyrosine ligase like 3 gene DOID:2843 long QT syndrome ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1311255 Ttll3 tubulin tyrosine ligase like 3 gene DOID:630 genetic disease ISO RGD:1322614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311255 Ttll3 tubulin tyrosine ligase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322614 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311255 Ttll3 tubulin tyrosine ligase like 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1322614 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1311256 Katnb1 katanin regulatory subunit B1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311256 Katnb1 katanin regulatory subunit B1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311256 Katnb1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:7240710 20170503 OMIM 1311256 Katnb1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly PMID:25521378|PMID:25521379|PMID:25741868|PMID:28492532 1311256 Katnb1 katanin regulatory subunit B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311256 Katnb1 katanin regulatory subunit B1 gene DOID:630 genetic disease ISO RGD:1322615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1322617 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:0110266 cataract 9 multiple types ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1322617 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322617 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:9263 homocystinuria ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1311257 Slx9 SLX9 ribosome biogenesis factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311258 Srrm1 serine and arginine repetitive matrix 1 gene DOID:11714 gestational diabetes ISO RGD:1322619 D RGD:11038724|PMID:24308201 20160223 RGD protein:increased glycation:placenta (human) 1311258 Srrm1 serine and arginine repetitive matrix 1 gene DOID:630 genetic disease ISO RGD:1322619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311259 Paqr5 progestin and adipoQ receptor family member 5 gene DOID:2717 Bloom syndrome ISO RGD:1606550 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311259 Paqr5 progestin and adipoQ receptor family member 5 gene DOID:630 genetic disease ISO RGD:1606550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311259 Paqr5 progestin and adipoQ receptor family member 5 gene DOID:9256 colorectal cancer ISO RGD:1606550 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311261 Ccpg1 cell cycle progression 1 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1322623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 1311261 Ccpg1 cell cycle progression 1 gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1322623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:25741868|PMID:28492532|PMID:31256876 1311261 Ccpg1 cell cycle progression 1 gene DOID:2717 Bloom syndrome ISO RGD:1322623 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311261 Ccpg1 cell cycle progression 1 gene DOID:630 genetic disease ISO RGD:1322623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311261 Ccpg1 cell cycle progression 1 gene DOID:9256 colorectal cancer ISO RGD:1322623 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311262 Tspyl5 TSPY-like 5 gene DOID:630 genetic disease ISO RGD:1322624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0060341 agnathia-otocephaly complex ISS RGD:1621362 D RGD:13592920 20180518 MouseDO OMIM:202650 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1322626 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:30167849|PMID:35298461 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:12583 velocardiofacial syndrome ISS RGD:1621362 D RGD:13592920 20180518 MouseDO OMIM:192430 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:12849 autistic disorder ISO RGD:1322626 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:37 skin disease ISO RGD:1322626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:630 genetic disease ISO RGD:1322626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322626 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9263 homocystinuria ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1311263 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311264 Ltv1 LTV1 ribosome biogenesis factor gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1322627 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 1311264 Ltv1 LTV1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311264 Ltv1 LTV1 ribosome biogenesis factor gene DOID:9001883 Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses ISO RGD:1322627 D RGD:7240710 20230201 OMIM 1311264 Ltv1 LTV1 ribosome biogenesis factor gene DOID:9001883 Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses ISO RGD:1322627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses PMID:34999892 1311265 Mettl25b methyltransferase like 25B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1311265 Mettl25b methyltransferase like 25B gene DOID:0111940 immunodeficiency 42 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311265 Mettl25b methyltransferase like 25B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311265 Mettl25b methyltransferase like 25B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311265 Mettl25b methyltransferase like 25B gene DOID:1540 parathyroid carcinoma ISO RGD:1603041 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311265 Mettl25b methyltransferase like 25B gene DOID:5812 MHC class II deficiency ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311265 Mettl25b methyltransferase like 25B gene DOID:630 genetic disease ISO RGD:1603041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311265 Mettl25b methyltransferase like 25B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603041 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311266 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1322630 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 1311266 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0070188 spermatogenic failure 1 ISO RGD:1322630 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:26199321 1311266 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:7240710 20190315 OMIM 1311266 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 25 PMID:25741868|PMID:26199321|PMID:28355598|PMID:28492532 1311266 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:2661 myoepithelioma ISO RGD:1322630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1311266 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:630 genetic disease ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1311267 Spef1 sperm flagellar 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322632 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1311267 Spef1 sperm flagellar 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1311267 Spef1 sperm flagellar 1 gene DOID:630 genetic disease ISO RGD:1322632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311267 Spef1 sperm flagellar 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1322632 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1311268 Rpusd4 RNA pseudouridine synthase D4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1311268 Rpusd4 RNA pseudouridine synthase D4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345355 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311268 Rpusd4 RNA pseudouridine synthase D4 gene DOID:5419 schizophrenia ISO RGD:1345355 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311268 Rpusd4 RNA pseudouridine synthase D4 gene DOID:630 genetic disease ISO RGD:1345355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311268 Rpusd4 RNA pseudouridine synthase D4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345355 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311268 Rpusd4 RNA pseudouridine synthase D4 gene DOID:9007661 Dwarfism ISO RGD:1345355 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311269 Tyw5 tRNA-yW synthesizing protein 5 gene DOID:630 genetic disease ISO RGD:1604998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311269 Tyw5 tRNA-yW synthesizing protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604998 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311270 Nvl nuclear VCP-like gene DOID:1540 parathyroid carcinoma ISO RGD:1322636 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311270 Nvl nuclear VCP-like gene DOID:630 genetic disease ISO RGD:1322636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311270 Nvl nuclear VCP-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322636 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311271 Ippk inositol-pentakisphosphate 2-kinase gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1322638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1311271 Ippk inositol-pentakisphosphate 2-kinase gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 1311271 Ippk inositol-pentakisphosphate 2-kinase gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1311271 Ippk inositol-pentakisphosphate 2-kinase gene DOID:630 genetic disease ISO RGD:1322638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:0050770 polycystic liver disease ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:0080322 polycystic kidney disease ISO RGD:1342764 D RGD:8554872 20191022 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:31395617 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:7240710 20130221 OMIM 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il PMID:15148656|PMID:15945070|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25966638|PMID:26453364|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617|PMID:35839600|PMID:9536098 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1342764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1342764 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1342764 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1342764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:7240710 20190315 OMIM 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA PMID:25741868|PMID:25966638|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342764 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311272 Alg9 ALG9, alpha-1,2-mannosyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1311274 Mfap3l microfibril associated protein 3 like gene DOID:630 genetic disease ISO RGD:1322643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311275 Foxh1 forkhead box H1 gene DOID:0050545 visceral heterotaxy ISS RGD:1322646 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1311275 Foxh1 forkhead box H1 gene DOID:0060341 agnathia-otocephaly complex ISS RGD:1322646 D RGD:13592920 20180518 MouseDO OMIM:202650 1311275 Foxh1 forkhead box H1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1311275 Foxh1 forkhead box H1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1311275 Foxh1 forkhead box H1 gene DOID:4621 holoprosencephaly ISO RGD:1322645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 1311275 Foxh1 forkhead box H1 gene DOID:630 genetic disease ISO RGD:1322645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311275 Foxh1 forkhead box H1 gene DOID:6419 tetralogy of Fallot ISO RGD:1322645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 1311275 Foxh1 forkhead box H1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:155791676|PMID:32003456 20230105 RGD DNA:misense mutations:cds:multiple 1311275 Foxh1 forkhead box H1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:8554872 20200915 ClinVar ClinVar Annotator: match by term: Conotruncal defect PMID:25741868|PMID:32003456 1311276 Sntg2 syntrophin, gamma 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1350202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 1311276 Sntg2 syntrophin, gamma 2 gene DOID:12849 autistic disorder ISO RGD:1350202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17292328 1311276 Sntg2 syntrophin, gamma 2 gene DOID:630 genetic disease ISO RGD:1350202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311276 Sntg2 syntrophin, gamma 2 gene DOID:9002189 High Myopia ISO RGD:1350202 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1311281 Ceacam20 CEA cell adhesion molecule 20 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1311281 Ceacam20 CEA cell adhesion molecule 20 gene DOID:5050 Ehrlich tumor carcinoma ISO RGD:1601830 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34605108 1311281 Ceacam20 CEA cell adhesion molecule 20 gene DOID:630 genetic disease ISO RGD:1601830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311282 Prss35 serine protease 35 gene DOID:0111953 immunodeficiency 23 ISO RGD:1322654 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 1311282 Prss35 serine protease 35 gene DOID:630 genetic disease ISO RGD:1322654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311282 Prss35 serine protease 35 gene DOID:9005369 Hepatomegaly ISO RGD:1322654 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:7240710 20151111 OMIM 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:23020937|PMID:24781758|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:2222 factor X deficiency ISO RGD:1322656 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1322656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322656 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311283 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322656 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 1311284 Ttc5 tetratricopeptide repeat domain 5 gene DOID:630 genetic disease ISO RGD:1322658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311284 Ttc5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:7240710 20210519 OMIM 1311284 Ttc5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism PMID:25741868|PMID:29302074|PMID:32439809 1311286 Rab39a RAB39A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1322661 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311286 Rab39a RAB39A, member RAS oncogene family gene DOID:12704 ataxia telangiectasia ISO RGD:1322661 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311286 Rab39a RAB39A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1322661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311286 Rab39a RAB39A, member RAS oncogene family gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322661 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311287 Cd109 CD109 molecule gene DOID:630 genetic disease ISO RGD:1322663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311287 Cd109 CD109 molecule gene DOID:9002189 High Myopia ISO RGD:1322663 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1311287 Cd109 CD109 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322663 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 1311287 Cd109 CD109 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1322663 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1311288 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1311288 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:630 genetic disease ISO RGD:1322665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311288 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1311288 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322665 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311289 Spag9 sperm associated antigen 9 gene DOID:1380 endometrial cancer ISO RGD:1322667 D RGD:30296659|PMID:24460345 20200612 RGD protein:increased expression:serum: 1311289 Spag9 sperm associated antigen 9 gene DOID:5082 liver cirrhosis ISO RGD:1322667 D RGD:30296654|PMID:29344208 20200612 RGD associated with Human Viral Hepatitis 1311289 Spag9 sperm associated antigen 9 gene DOID:630 genetic disease ISO RGD:1322667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311289 Spag9 sperm associated antigen 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322667 D RGD:30296654|PMID:29344208 20200612 RGD associated with Human Viral Hepatitis 1311289 Spag9 sperm associated antigen 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322667 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311292 Rcn1 reticulocalbin 1 gene DOID:1059 intellectual disability ISO RGD:1322672 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311292 Rcn1 reticulocalbin 1 gene DOID:305 carcinoma ISO RGD:1322672 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311292 Rcn1 reticulocalbin 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1322672 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 1311292 Rcn1 reticulocalbin 1 gene DOID:630 genetic disease ISO RGD:1322672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311292 Rcn1 reticulocalbin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322672 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311292 Rcn1 reticulocalbin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322672 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311292 Rcn1 reticulocalbin 1 gene DOID:9002455 Aniridia 1 ISO RGD:1322672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 1311292 Rcn1 reticulocalbin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322672 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311293 Nlrx1 NLR family member X1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1606225 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0080690 RASopathy ISO RGD:1606225 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606225 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1606225 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1311293 Nlrx1 NLR family member X1 gene DOID:2843 long QT syndrome ISO RGD:1606225 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1311293 Nlrx1 NLR family member X1 gene DOID:5419 schizophrenia ISO RGD:1606225 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311293 Nlrx1 NLR family member X1 gene DOID:630 genetic disease ISO RGD:1606225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311293 Nlrx1 NLR family member X1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606225 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311293 Nlrx1 NLR family member X1 gene DOID:9007661 Dwarfism ISO RGD:1606225 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311294 Fam184a family with sequence similarity 184, member A gene DOID:1059 intellectual disability ISO RGD:1322675 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1311294 Fam184a family with sequence similarity 184, member A gene DOID:10907 microcephaly ISO RGD:1322675 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1311294 Fam184a family with sequence similarity 184, member A gene DOID:12849 autistic disorder ISO RGD:1322675 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1311294 Fam184a family with sequence similarity 184, member A gene DOID:1826 epilepsy ISO RGD:1322675 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311294 Fam184a family with sequence similarity 184, member A gene DOID:303 substance-related disorder ISO RGD:1322675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1311294 Fam184a family with sequence similarity 184, member A gene DOID:630 genetic disease ISO RGD:1322675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311294 Fam184a family with sequence similarity 184, member A gene DOID:9000495 Tremor ISO RGD:1322675 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1311295 Dmap1 DNA methyltransferase 1-associated protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1311295 Dmap1 DNA methyltransferase 1-associated protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322676 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311295 Dmap1 DNA methyltransferase 1-associated protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1311295 Dmap1 DNA methyltransferase 1-associated protein 1 gene DOID:1826 epilepsy ISO RGD:1322676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1311295 Dmap1 DNA methyltransferase 1-associated protein 1 gene DOID:630 genetic disease ISO RGD:1322676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311295 Dmap1 DNA methyltransferase 1-associated protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 1311296 Camta2 calmodulin binding transcription activator 2 gene DOID:0050941 spastic ataxia 2 ISO RGD:1322678 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 1311296 Camta2 calmodulin binding transcription activator 2 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1322678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 1311296 Camta2 calmodulin binding transcription activator 2 gene DOID:630 genetic disease ISO RGD:1322678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311297 Mak16 MAK16 homolog gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1350635 D RGD:8554872 20220329 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:23956177 1311297 Mak16 MAK16 homolog gene DOID:10907 microcephaly ISO RGD:1350635 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311297 Mak16 MAK16 homolog gene DOID:630 genetic disease ISO RGD:1350635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311298 Ubald2 UBA-like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311302 Ift122 intraflagellar transport 122 gene DOID:0050572 cone-rod dystrophy ISO RGD:1349473 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1349473 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1311302 Ift122 intraflagellar transport 122 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1349473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:23826986|PMID:24027799|PMID:25741868|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:7240710 20190327 OMIM 1311302 Ift122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:16199547|PMID:17022080|PMID:17576681|PMID:19648123|PMID:19760620|PMID:20493458|PMID:23826986|PMID:24027799|PMID:25326637|PMID:25741868|PMID:26792575|PMID:28370949|PMID:28492532|PMID:29037998|PMID:33532864|PMID:33717254|PMID:9536098 1311302 Ift122 intraflagellar transport 122 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:10907 microcephaly ISO RGD:1349473 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:10908 hydrocephalus ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:2340 craniosynostosis ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:557 kidney disease ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:630 genetic disease ISO RGD:1349473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:65 connective tissue disease ISO RGD:1349473 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:65 connective tissue disease ISO RGD:1349473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25326637|PMID:25741868|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:9002608 Spinal Curvatures ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:9002860 Cardiac Edema ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:9008296 Eye Abnormalities ISO RGD:1349473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 1311302 Ift122 intraflagellar transport 122 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1311302 Ift122 intraflagellar transport 122 gene DOID:9270 alkaptonuria ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311303 Prpf4 pre-mRNA processing factor 4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:7240710 20170405 OMIM 1311303 Prpf4 pre-mRNA processing factor 4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 70 PMID:17576681|PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199|PMID:9536098 1311303 Prpf4 pre-mRNA processing factor 4 gene DOID:303 substance-related disorder ISO RGD:1322687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1311303 Prpf4 pre-mRNA processing factor 4 gene DOID:630 genetic disease ISO RGD:1322687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199 1311303 Prpf4 pre-mRNA processing factor 4 gene DOID:8501 fundus dystrophy ISO RGD:1322687 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1311305 Golga1 golgin A1 gene DOID:630 genetic disease ISO RGD:1322690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311306 Rsph3 radial spoke head 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1311306 Rsph3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:7240710 20170301 OMIM 1311306 Rsph3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26073779|PMID:28492532|PMID:9536098 1311306 Rsph3 radial spoke head 3 gene DOID:630 genetic disease ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311306 Rsph3 radial spoke head 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 1311307 Pxdc1 PX domain containing 1 gene DOID:630 genetic disease ISO RGD:1322692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311308 Tars3 threonyl-tRNA synthetase 3 gene DOID:630 genetic disease ISO RGD:1351710 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311309 Fryl FRY like transcription coactivator gene DOID:630 genetic disease ISO RGD:1352555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311310 Smdt1 single-pass membrane protein with aspartate-rich tail 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1311310 Smdt1 single-pass membrane protein with aspartate-rich tail 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1311310 Smdt1 single-pass membrane protein with aspartate-rich tail 1 gene DOID:1059 intellectual disability ISO RGD:1602445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311310 Smdt1 single-pass membrane protein with aspartate-rich tail 1 gene DOID:630 genetic disease ISO RGD:1602445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311310 Smdt1 single-pass membrane protein with aspartate-rich tail 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602445 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1311311 Slc25a16 solute carrier family 25 member 16 gene DOID:0080683 nonsyndromic congenital nail disorder ISO RGD:1322697 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital PMID:28504827 1311311 Slc25a16 solute carrier family 25 member 16 gene DOID:630 genetic disease ISO RGD:1322697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311311 Slc25a16 solute carrier family 25 member 16 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1322697 D RGD:8554872 20160616 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:35315983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:35315983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:35315983 D RGD:7240710 20200708 OMIM 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:35315983 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 67 PMID:24033266|PMID:25741868|PMID:25759012|PMID:28492532 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:35315983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:35315983 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:1824 status epilepticus treatment IEP D RGD:41404657|PMID:33132826 20210129 RGD 1311312 Osbpl2 oxysterol binding protein-like 2 gene DOID:630 genetic disease ISO RGD:35315983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0080600 COVID-19 ISO RGD:1322701 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:543 dystonia ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:6000 congestive heart failure ISO RGD:1322701 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:630 genetic disease ISO RGD:1322701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:684 hepatocellular carcinoma IEP D RGD:2302305|PMID:3878730 20081211 RGD mRNA:increased expression:liver 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 1311313 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311314 Amz1 archaelysin family metallopeptidase 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1605859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 1311314 Amz1 archaelysin family metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1605859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311315 Frzb frizzled-related protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322704 D RGD:32716395|PMID:27623992 20200629 RGD protein:decreased expression:lung (human) 1311315 Frzb frizzled-related protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322704 D RGD:32716395|PMID:27623992 20200629 RGD DNA:hypermethylation:exon 1 1311315 Frzb frizzled-related protein gene DOID:3910 lung adenocarcinoma severity ISO RGD:1322704 D RGD:9068941 20200702 RGD mRNA:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 1311315 Frzb frizzled-related protein gene DOID:630 genetic disease ISO RGD:1322704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311315 Frzb frizzled-related protein gene DOID:8398 osteoarthritis ISO RGD:1322704 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism 1311315 Frzb frizzled-related protein gene DOID:8398 osteoarthritis ISO RGD:1322704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis PMID:15210948|PMID:25741868 1311315 Frzb frizzled-related protein gene DOID:8398 osteoarthritis susceptibility ISO RGD:1322704 D RGD:7240710 20190502 OMIM 1311315 Frzb frizzled-related protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322704 D RGD:32716394|PMID:28240822 20200629 RGD protein, decreased expression:skeletal muscle, serum (human) 1311316 Sike1 suppressor of IKBKE 1 gene DOID:0080690 RASopathy ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1311316 Sike1 suppressor of IKBKE 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1311316 Sike1 suppressor of IKBKE 1 gene DOID:630 genetic disease ISO RGD:1602207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311317 Hhipl2 HHIP like 2 gene DOID:0050439 Usher syndrome ISO RGD:1605638 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1311317 Hhipl2 HHIP like 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605638 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1311317 Hhipl2 HHIP like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605638 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311317 Hhipl2 HHIP like 2 gene DOID:630 genetic disease ISO RGD:1605638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311317 Hhipl2 HHIP like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605638 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311321 Ythdf2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:630 genetic disease ISO RGD:1322711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311321 Ythdf2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322711 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28104805 1311323 Nckipsd NCK interacting protein with SH3 domain gene DOID:630 genetic disease ISO RGD:1322714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311323 Nckipsd NCK interacting protein with SH3 domain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322714 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1311323 Nckipsd NCK interacting protein with SH3 domain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311324 Tmem214 transmembrane protein 214 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1311324 Tmem214 transmembrane protein 214 gene DOID:630 genetic disease ISO RGD:1606543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311324 Tmem214 transmembrane protein 214 gene DOID:9006836 Contracture ISO RGD:1606543 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1311326 Klhl28 kelch-like family member 28 gene DOID:13636 Fanconi anemia ISO RGD:1322718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 1311326 Klhl28 kelch-like family member 28 gene DOID:630 genetic disease ISO RGD:1322718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311326 Klhl28 kelch-like family member 28 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311327 Acyp1 acylphosphatase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29928259|PMID:30548430 1311327 Acyp1 acylphosphatase 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:12955717|PMID:15937921|PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25558065|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29928259|PMID:30548430 1311327 Acyp1 acylphosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1351089 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1311327 Acyp1 acylphosphatase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 1311329 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0080162 lupus nephritis ISO RGD:1322723 D RGD:7175260|PMID:22279542 20140715 RGD protein:increased expression:kidney 1311329 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311329 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:1059 intellectual disability ISO RGD:1322723 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311329 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322723 D RGD:7175260|PMID:22279542 20140715 RGD protein:increased expression:kidney 1311329 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:3070 high grade glioma ISO RGD:1322723 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311329 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:630 genetic disease ISO RGD:1322723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322725 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0080600 COVID-19 ISO RGD:1322725 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:1070 primary open angle glaucoma ISO RGD:1322725 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:630 genetic disease ISO RGD:1322725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1322725 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:7240710 20210526 OMIM 1311330 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy PMID:25741868|PMID:32865517|PMID:33712616 1311331 Hs1bp3 HCLS1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1602467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311332 Taf5 TATA-box binding protein associated factor 5 gene DOID:630 genetic disease ISO RGD:1322729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311333 Lta4h leukotriene A4 hydrolase gene DOID:0080600 COVID-19 ISO RGD:1322731 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311333 Lta4h leukotriene A4 hydrolase gene DOID:10754 otitis media ISO RGD:9009488 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 1311333 Lta4h leukotriene A4 hydrolase gene DOID:1749 squamous cell carcinoma IEP D RGD:2316582|PMID:17985342 20100217 RGD protein:increased expression:tongue, carcinoma, stroma (rat) 1311333 Lta4h leukotriene A4 hydrolase gene DOID:1936 atherosclerosis ISO RGD:1322731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 1311333 Lta4h leukotriene A4 hydrolase gene DOID:2841 asthma IEP D RGD:2316607|PMID:15715933 20100217 RGD mRNA:increased expression:lung, cerebral cortex (rat) 1311333 Lta4h leukotriene A4 hydrolase gene DOID:299 adenocarcinoma IEP D RGD:2316606|PMID:12865451 20100217 RGD protein:increased expression:esophagus (rat) 1311333 Lta4h leukotriene A4 hydrolase gene DOID:630 genetic disease ISO RGD:1322731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311333 Lta4h leukotriene A4 hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311334 Wdr81 WD repeat domain 81 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606736 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1311334 Wdr81 WD repeat domain 81 gene DOID:0112234 microlissencephaly ISO RGD:1606736 D RGD:8554872 20210330 ClinVar ClinVar Annotator: match by term: Microlissencephaly 1311334 Wdr81 WD repeat domain 81 gene DOID:1059 intellectual disability ISO RGD:1606736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16371500|PMID:21885617|PMID:25741868 1311334 Wdr81 WD repeat domain 81 gene DOID:10907 microcephaly ISO RGD:1606736 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 1311334 Wdr81 WD repeat domain 81 gene DOID:630 genetic disease ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:30560021|PMID:31363758|PMID:31785789 1311334 Wdr81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:7240710 20130731 OMIM 1311334 Wdr81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 PMID:16371500|PMID:21885617|PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:28969387 1311334 Wdr81 WD repeat domain 81 gene DOID:9008539 Perinatal Death ISO RGD:1606736 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065|PMID:25741868|PMID:28556411 1311334 Wdr81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:7240710 20190315 OMIM 1311334 Wdr81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies PMID:16371500|PMID:21885617|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28556411|PMID:30560021|PMID:31363758 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1322734 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:1580594|PMID:16606917 19990101 RGD DNA:frameshift mutations, missense mutation:cds:multiple (human) 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:7240710 20130221 OMIM 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17576681|PMID:17893295|PMID:18414213|PMID:18566107|PMID:20020398|PMID:21628467|PMID:23593405|PMID:24341143|PMID:25525159|PMID:25741868|PMID:26392352|PMID:27717089|PMID:28492532|PMID:30038111|PMID:31439721|PMID:9536098 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1322734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17893295|PMID:20020398|PMID:21628467|PMID:23593405|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30038111|PMID:31439721 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:2477 motor peripheral neuropathy ISS RGD:1322735 D RGD:13592920 20180607 MouseDO 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:2717 Bloom syndrome ISO RGD:1322734 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:574 peripheral nervous system disease ISO RGD:1322734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:574 peripheral nervous system disease ISO RGD:1322734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:630 genetic disease ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12368912|PMID:16606917|PMID:19665974|PMID:24043619|PMID:25741868|PMID:28492532|PMID:28814402|PMID:31439721|PMID:33199848|PMID:33323309|PMID:35733399 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:870 neuropathy ISO RGD:1322734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:7240710 20221012 OMIM 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II PMID:16606917|PMID:25741868|PMID:27485015|PMID:28492532|PMID:31439721|PMID:33323309|PMID:35733399 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:9003133 Hypertelorism ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1322734 D RGD:8554872 20170131 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 1311335 Slc12a6 solute carrier family 12, member 6 gene DOID:9256 colorectal cancer ISO RGD:1322734 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311336 Rbm28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:7240710 20130221 OMIM 1311336 Rbm28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANE syndrome PMID:18439547|PMID:25741868 1311336 Rbm28 RNA binding motif protein 28 gene DOID:10907 microcephaly ISO RGD:1322736 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311336 Rbm28 RNA binding motif protein 28 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322736 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311336 Rbm28 RNA binding motif protein 28 gene DOID:630 genetic disease ISO RGD:1322736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:7240710 20190315 OMIM 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:1540 parathyroid carcinoma ISO RGD:1322738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:630 genetic disease ISO RGD:1322738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322738 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:9008086 Developmental Disabilities ISO RGD:1322738 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:9008386 Hydrops Fetalis ISO RGD:1322738 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1311337 Pigc phosphatidylinositol glycan anchor biosynthesis, class C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322738 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311339 Kpna3 karyopherin subunit alpha 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322742 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1311339 Kpna3 karyopherin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1322742 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311339 Kpna3 karyopherin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1322742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311339 Kpna3 karyopherin subunit alpha 3 gene DOID:9008849 Spastic Paraplegia 88, Autosomal Dominant ISO RGD:1322742 D RGD:7240710 20221123 OMIM 1311339 Kpna3 karyopherin subunit alpha 3 gene DOID:9008849 Spastic Paraplegia 88, Autosomal Dominant ISO RGD:1322742 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant PMID:34564892|PMID:34825409|PMID:34981581 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0050765 neuroacanthocytosis ISO RGD:1312307 D RGD:11554173 20180801 CTD CTD Direct Evidence: marker/mechanism 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:7240710 20180725 OMIM 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:11381253|PMID:11381254|PMID:12404112|PMID:14663054|PMID:15824261|PMID:15918062|PMID:16199547|PMID:17516458|PMID:17576681|PMID:17998451|PMID:21145924|PMID:21598378|PMID:22777538|PMID:24033266|PMID:24974674|PMID:25733999|PMID:25741868|PMID:26467025|PMID:26870756|PMID:27400454|PMID:28492532|PMID:31192303|PMID:32131761|PMID:9536098 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:12859 choreatic disease ISO RGD:1312307 D RGD:1599747|PMID:11381253 20070213 RGD choreoacanthocytosis, OMIM:200150 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:630 genetic disease ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:8725 vascular dementia ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1311340 Vps13a vacuolar protein sorting 13 homolog A gene DOID:9006534 Nervous System Malformations ISO RGD:1312307 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1311341 Utp4 UTP4 small subunit processome component gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311341 Utp4 UTP4 small subunit processome component gene DOID:12236 primary biliary cholangitis ISO RGD:1322745 D RGD:1600653|PMID:12417987 20070322 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W 1311341 Utp4 UTP4 small subunit processome component gene DOID:13580 cholestasis ISO RGD:1322745 D RGD:1600653|PMID:12417987 20070322 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W 1311341 Utp4 UTP4 small subunit processome component gene DOID:630 genetic disease ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311341 Utp4 UTP4 small subunit processome component gene DOID:9006899 North American Indian Childhood Cirrhosis ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis PMID:12417987|PMID:16225863|PMID:19732766|PMID:20385600|PMID:22916032|PMID:24123366|PMID:25741868|PMID:27535533|PMID:28492532 1311342 Cdc26 cell division cycle 26 gene DOID:630 genetic disease ISO RGD:1322746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311343 RGD1311343 similar to RIKEN cDNA 4930524B15 gene DOID:630 genetic disease ISO RGD:2298818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311344 Dzank1 double zinc ribbon and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1322749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1322753 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:7240710 20140911 OMIM 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:16199547|PMID:17576681|PMID:18606301|PMID:21493957|PMID:22271396|PMID:24033266|PMID:24253414|PMID:24852103|PMID:25640679|PMID:25741868|PMID:26364997|PMID:26394714|PMID:26419326|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:27891564|PMID:28273706|PMID:28327575|PMID:28492532|PMID:29096607|PMID:29330547|PMID:30293990|PMID:30609409|PMID:30665423|PMID:32220244|PMID:32860008|PMID:33193741|PMID:33619735|PMID:33763700|PMID:34051595|PMID:34426522|PMID:34782754|PMID:34906502|PMID:35468813|PMID:9536098 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome ISO RGD:1322753 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26394714|PMID:27038415|PMID:28492532|PMID:30293990|PMID:30609409 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:12859 choreatic disease ISO RGD:12180289 D RGD:9068941 20230128 OMIA Dyskinesia, paroxysmal, PIGN-related PMID:15474685|PMID:27891564|PMID:28703446|PMID:33769611|PMID:36086931 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:1826 epilepsy ISO RGD:1322753 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:3910 lung adenocarcinoma ISO RGD:1322753 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:4621 holoprosencephaly ISS RGD:1322754 D RGD:13592920 20191010 MouseDO 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:5419 schizophrenia ISO RGD:1322753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:630 genetic disease ISO RGD:1322753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26394714|PMID:26467025|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:28327575|PMID:28492532|PMID:30293990|PMID:30609409|PMID:32220244|PMID:33619735 1311346 Pign phosphatidylinositol glycan anchor biosynthesis, class N gene DOID:9006205 Animal Disease Models ISO RGD:1322753 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311347 Pipox pipecolic acid and sarcosine oxidase gene DOID:630 genetic disease ISO RGD:1322755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311347 Pipox pipecolic acid and sarcosine oxidase gene DOID:906 peroxisomal disease ISO RGD:1322755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10642506 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311348 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1311349 Iqce IQ motif containing E gene DOID:0050581 brachydactyly ISO RGD:1350439 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:31549751 1311349 Iqce IQ motif containing E gene DOID:0111957 immunodeficiency 11A ISO RGD:1350439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 1311349 Iqce IQ motif containing E gene DOID:630 genetic disease ISO RGD:1350439 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311349 Iqce IQ motif containing E gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1350439 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868|PMID:31549751 1311349 Iqce IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:7240710 20190315 OMIM 1311349 Iqce IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 PMID:25741868|PMID:28488682|PMID:31549751 1311350 Prune2 prune homolog 2 with BCH domain gene DOID:630 genetic disease ISO RGD:1322392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311350 Prune2 prune homolog 2 with BCH domain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311351 Npepl1 aminopeptidase-like 1 gene DOID:630 genetic disease ISO RGD:151931291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322768 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:630 genetic disease ISO RGD:1322768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9006599 Hypertriglyceridemia IEP D RGD:13801195|PMID:20729114 20181105 RGD associated with obesity 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9870 galactosemia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1311354 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9970 obesity IEP D RGD:13822707|PMID:20559011 20181106 RGD mRNA:decreased expression:epididymal fat pad 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:3652 Leigh disease ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1322769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311355 Phpt1 phosphohistidine phosphatase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1311356 Coq8b coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:7240710 20140911 OMIM 1311356 Coq8b coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 9 PMID:17576681|PMID:24270420|PMID:25741868|PMID:28204945|PMID:28405841|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29382012|PMID:30076350|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:32957916|PMID:33084234|PMID:33413146|PMID:33532864|PMID:34172776|PMID:9536098 1311356 Coq8b coenzyme Q8B gene DOID:1074 kidney failure ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal failure PMID:25741868 1311356 Coq8b coenzyme Q8B gene DOID:1184 nephrotic syndrome ISO RGD:1322771 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:33532864 1311356 Coq8b coenzyme Q8B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1311356 Coq8b coenzyme Q8B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1311356 Coq8b coenzyme Q8B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1311356 Coq8b coenzyme Q8B gene DOID:2340 craniosynostosis ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1311356 Coq8b coenzyme Q8B gene DOID:557 kidney disease ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1311356 Coq8b coenzyme Q8B gene DOID:630 genetic disease ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33084234 1311356 Coq8b coenzyme Q8B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1311356 Coq8b coenzyme Q8B gene DOID:9269 maple syrup urine disease ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1311358 Cep57l1 centrosomal protein 57-like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1311358 Cep57l1 centrosomal protein 57-like 1 gene DOID:630 genetic disease ISO RGD:1347020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1322776 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects PMID:25741868|PMID:28492532 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:7240710 20130221 OMIM 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG PMID:15576474|PMID:21864493|PMID:23873973|PMID:24033266|PMID:25552652|PMID:25741868|PMID:28492532|PMID:28856833|PMID:30115659 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 1311359 Slc35a1 solute carrier family 35 member A1 gene DOID:630 genetic disease ISO RGD:1322776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311360 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:1059 intellectual disability ISO RGD:1322778 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311360 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:12704 ataxia telangiectasia ISO RGD:1322778 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311360 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:630 genetic disease ISO RGD:1322778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311360 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322778 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311361 Lin54 lin-54 DREAM MuvB core complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606970 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1311361 Lin54 lin-54 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1606970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311362 Ntaq1 N-terminal glutamine amidase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602877 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1311362 Ntaq1 N-terminal glutamine amidase 1 gene DOID:630 genetic disease ISO RGD:1602877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311363 Ptpn3 protein tyrosine phosphatase, non-receptor type 3 gene DOID:10283 prostate cancer ISO RGD:1322781 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311363 Ptpn3 protein tyrosine phosphatase, non-receptor type 3 gene DOID:630 genetic disease ISO RGD:1322781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311363 Ptpn3 protein tyrosine phosphatase, non-receptor type 3 gene DOID:9775 diastolic heart failure ISO RGD:1322781 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1311364 Tmem218 transmembrane protein 218 gene DOID:0050576 Senior-Loken syndrome ISS RGD:1332286 D RGD:13592920 20180518 MouseDO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 1311364 Tmem218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:33791682 1311364 Tmem218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:33791682 1311364 Tmem218 transmembrane protein 218 gene DOID:0070118 Meckel syndrome 4 ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:33791682 1311364 Tmem218 transmembrane protein 218 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1311364 Tmem218 transmembrane protein 218 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2293899 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311364 Tmem218 transmembrane protein 218 gene DOID:5419 schizophrenia ISO RGD:2293899 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311364 Tmem218 transmembrane protein 218 gene DOID:630 genetic disease ISO RGD:2293899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33791682 1311364 Tmem218 transmembrane protein 218 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293899 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311364 Tmem218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:7240710 20211027 OMIM 1311364 Tmem218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 39 PMID:25741868|PMID:33791682|PMID:35137054 1311364 Tmem218 transmembrane protein 218 gene DOID:9007661 Dwarfism ISO RGD:2293899 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311365 Trappc1 trafficking protein particle complex subunit 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1311365 Trappc1 trafficking protein particle complex subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1322784 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1311365 Trappc1 trafficking protein particle complex subunit 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1311365 Trappc1 trafficking protein particle complex subunit 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1311365 Trappc1 trafficking protein particle complex subunit 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1311366 Epb41l5 erythrocyte membrane protein band 4.1 like 5 gene DOID:630 genetic disease ISO RGD:1322786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311367 Snx30 sorting nexin family member 30 gene DOID:630 genetic disease ISO RGD:1601789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311369 Tcea3 transcription elongation factor A3 gene DOID:630 genetic disease ISO RGD:1322790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311369 Tcea3 transcription elongation factor A3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1311370 Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1311370 Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1311370 Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1311370 Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 gene DOID:10283 prostate cancer ISO RGD:1322792 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311370 Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 gene DOID:630 genetic disease ISO RGD:1322792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311370 Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1322794 D RGD:11554173 20180809 CTD CTD Direct Evidence: marker/mechanism 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1322794 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:7240710 20180307 OMIM 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:21370513|PMID:24008591|PMID:24488861|PMID:25326637|PMID:25741868|PMID:26752647|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517|PMID:8723066 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:630 genetic disease ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1322794 D RGD:1600970|PMID:12509788 20070402 RGD Cold-induced sweating syndrome-1, OMIM:272430 1311371 Crlf1 cytokine receptor-like factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:25741868|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:25741868|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1322796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11890679|PMID:12223482 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1322796 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:7240710 20140911 OMIM 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect PMID:11890679|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:1059 intellectual disability ISO RGD:1322796 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:10907 microcephaly ISO RGD:1322796 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:630 genetic disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:7240710 20140911 OMIM 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B PMID:20647552|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26633545|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11890679 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 1311372 Pex16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 1311373 Zswim2 zinc finger, SWIM-type containing 2 gene DOID:630 genetic disease ISO RGD:1322798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311373 Zswim2 zinc finger, SWIM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322798 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311374 Itgb8 integrin subunit beta 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1322799 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 1311374 Itgb8 integrin subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:1322799 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311374 Itgb8 integrin subunit beta 8 gene DOID:289 endometriosis ISO RGD:1322799 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1311374 Itgb8 integrin subunit beta 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322799 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311374 Itgb8 integrin subunit beta 8 gene DOID:630 genetic disease ISO RGD:1322799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311374 Itgb8 integrin subunit beta 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322799 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1322801 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322801 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:7240710 20130425 OMIM 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:7240710 20141015 OMIM 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:20932945|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:2319578|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:7496176|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:7240710 20140924 OMIM 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:18758830|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24598713|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32385536 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:7240710 20130221 OMIM 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1322801 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17572665 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29518270|PMID:31313076|PMID:32385536|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:30373780|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32022442 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:630 genetic disease ISO RGD:1322801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:34169998|PMID:34426522|PMID:9536098 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:9000495 Tremor ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:21705420|PMID:28492532 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:9001276 Failure to Thrive ISO RGD:1322801 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 1311375 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:9005668 Dental Medial Diastema ISO RGD:1322801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diastema, dental medial PMID:25741868|PMID:28492532 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322803 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:0080600 COVID-19 ISO RGD:1322803 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1322803 D RGD:1642025|PMID:11438176 20070829 RGD mRNA:increased expression:mononuclear cell 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:630 genetic disease ISO RGD:1322803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:9003281 Spontaneous Abortions ISO RGD:1322803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:7240710 20150930 OMIM 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cavitary optic disc anomalies PMID:10764862|PMID:25581579|PMID:25741868|PMID:28492532 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:1642022|PMID:15169894 20070829 RGD 1311376 Mmp19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:1642023|PMID:12529376 20070829 RGD mRNA:increased expression:adipose tissue 1311377 Rpia ribose 5-phosphate isomerase A gene DOID:630 genetic disease ISO RGD:1322805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311377 Rpia ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:7240710 20130221 OMIM 1311377 Rpia ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase PMID:10589548|PMID:14988808|PMID:20499043|PMID:25741868|PMID:28492532|PMID:30088433|PMID:31056085 1311378 Fam210b family with sequence similarity 210, member B gene DOID:630 genetic disease ISO RGD:1322807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311379 Insc INSC, spindle orientation adaptor protein gene DOID:1059 intellectual disability ISO RGD:1606091 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311379 Insc INSC, spindle orientation adaptor protein gene DOID:630 genetic disease ISO RGD:1606091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311380 Fanca FA complementation group A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1311380 Fanca FA complementation group A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311380 Fanca FA complementation group A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1311380 Fanca FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:7240710 20181219 OMIM 1311380 Fanca FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:10283 prostate cancer ISO RGD:1322810 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10094191|PMID:24728327|PMID:25741868|PMID:26181256|PMID:28492532|PMID:28864460 1311380 Fanca FA complementation group A gene DOID:10907 microcephaly ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 1311380 Fanca FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:11344902|PMID:19237606 20160707 RGD 1311380 Fanca FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:11344899|PMID:15523645 20160707 RGD DNA:missense mutations, splice-site mutations:exon, intron:multiple 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:11344919|PMID:12827451 20160708 RGD DNA:deletions, transitions:exon, intron:multiple 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:31030435|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 1311380 Fanca FA complementation group A gene DOID:13636 Fanconi anemia disease_progression ISO RGD:1322810 D RGD:11344914|PMID:11110674 20160708 RGD DNA:deletion 1311380 Fanca FA complementation group A gene DOID:14780 KBG syndrome ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1311380 Fanca FA complementation group A gene DOID:1612 breast cancer ISO RGD:1322810 D RGD:11344892|PMID:23021409 20160707 RGD DNA:missense mutations, SNP:exon, 5' utr:p.T266A (c.796A>G, rs7190823), p.G501S (c.1501G>A, rs2239359), c.-1C>A (human) 1311380 Fanca FA complementation group A gene DOID:1612 breast cancer ISO RGD:1322810 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 1311380 Fanca FA complementation group A gene DOID:1793 pancreatic cancer ISO RGD:1322810 D RGD:2317735|PMID:15591268 20100420 RGD DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human) 1311380 Fanca FA complementation group A gene DOID:2018 hyperinsulinism ISO RGD:1322810 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 1311380 Fanca FA complementation group A gene DOID:2394 ovarian cancer ISO RGD:1322810 D RGD:11344887|PMID:15860134 20160707 RGD DNA:duplication:promoter 1311380 Fanca FA complementation group A gene DOID:2394 ovarian cancer ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 1311380 Fanca FA complementation group A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322810 D RGD:11344913|PMID:21279724 20160708 RGD DNA:missense mutation: :p.S858R (human) 1311380 Fanca FA complementation group A gene DOID:4362 cervical cancer ISO RGD:1322810 D RGD:11344886|PMID:19012493 20160707 RGD DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) 1311380 Fanca FA complementation group A gene DOID:4362 cervical cancer no_association ISO RGD:1322810 D RGD:11344901|PMID:21543111 20160707 RGD DNA:SNP: :rs11649196 (human) 1311380 Fanca FA complementation group A gene DOID:5223 infertility ISO RGD:1322811 D RGD:11344895|PMID:10915769 20160707 RGD associated with Hypogonadism 1311380 Fanca FA complementation group A gene DOID:5426 primary ovarian insufficiency ISO RGD:1322810 D RGD:11344888|PMID:24045675 20160707 RGD DNA:SNPs, haplotypes: :multiple 1311380 Fanca FA complementation group A gene DOID:5426 primary ovarian insufficiency ISO RGD:1322810 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:28687356|PMID:28767289 1311380 Fanca FA complementation group A gene DOID:630 genetic disease ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792206 1311380 Fanca FA complementation group A gene DOID:6846 familial melanoma ISO RGD:1322810 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 1311380 Fanca FA complementation group A gene DOID:687 hepatoblastoma ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532 1311380 Fanca FA complementation group A gene DOID:769 neuroblastoma ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 1311380 Fanca FA complementation group A gene DOID:8923 skin melanoma disease_progression ISO RGD:1322810 D RGD:11344896|PMID:25243787 20160707 RGD DNA:SNP: :rs62068372 (human) 1311380 Fanca FA complementation group A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1322810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311380 Fanca FA complementation group A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1322810 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:10521298|PMID:12444097|PMID:25741868 1311380 Fanca FA complementation group A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322810 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311380 Fanca FA complementation group A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322810 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17924555|PMID:19367192|PMID:25741868|PMID:28492532 1311380 Fanca FA complementation group A gene DOID:9007692 Insulin Resistance ISO RGD:1322811 D RGD:11046266|PMID:22482891 20160404 RGD 1311380 Fanca FA complementation group A gene DOID:9119 acute myeloid leukemia ISO RGD:1322810 D RGD:11344889|PMID:14749703 20160707 RGD DNA, mRNA:deletions, decreased expression: :multiple 1311380 Fanca FA complementation group A gene DOID:9970 obesity ISO RGD:1322811 D RGD:11046266|PMID:22482891 20160404 RGD 1311381 Tent5a terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:7240710 20190315 OMIM 1311381 Tent5a terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 PMID:25741868|PMID:28492532|PMID:29358272 1311381 Tent5a terminal nucleotidyltransferase 5A gene DOID:10485 esophageal atresia ISO RGD:1604353 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1311381 Tent5a terminal nucleotidyltransferase 5A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1604353 D RGD:14390136|PMID:25884493 20190220 RGD DNA:repeats: : 1311381 Tent5a terminal nucleotidyltransferase 5A gene DOID:8398 osteoarthritis susceptibility ISO RGD:1604353 D RGD:14390133|PMID:25231575 20190220 RGD DNA:repeats: : 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322814 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:0070034 autosomal dominant intellectual developmental disorder 4 ISO RGD:1322814 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4 PMID:19012874|PMID:25741868 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322814 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1322814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:1059 intellectual disability ISO RGD:1322814 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1322814 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1322814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322814 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9007661 Dwarfism ISO RGD:1322814 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1322814 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1311382 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9008582 Developmental Disease ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311383 Slc5a9 solute carrier family 5 member 9 gene DOID:630 genetic disease ISO RGD:1322816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311385 Ankrd24 ankyrin repeat domain 24 gene DOID:13938 amenorrhea ISO RGD:1322819 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1311385 Ankrd24 ankyrin repeat domain 24 gene DOID:630 genetic disease ISO RGD:1322819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311386 Foxp4 forkhead box P4 gene DOID:0050444 infantile Refsum disease ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311386 Foxp4 forkhead box P4 gene DOID:10003 sensorineural hearing loss ISO RGD:1322820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 1311386 Foxp4 forkhead box P4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1311386 Foxp4 forkhead box P4 gene DOID:6000 congestive heart failure ISO RGD:1322820 D RGD:1582564|PMID:16952980 20061113 RGD 1311386 Foxp4 forkhead box P4 gene DOID:630 genetic disease ISO RGD:1322820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311386 Foxp4 forkhead box P4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 1311386 Foxp4 forkhead box P4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322820 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Global developmental delay 1311386 Foxp4 forkhead box P4 gene DOID:905 Zellweger syndrome ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311387 Nudt16 nudix hydrolase 16 gene DOID:0080600 COVID-19 ISO RGD:1347227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311387 Nudt16 nudix hydrolase 16 gene DOID:630 genetic disease ISO RGD:1347227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311387 Nudt16 nudix hydrolase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311387 Nudt16 nudix hydrolase 16 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347227 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1311387 Nudt16 nudix hydrolase 16 gene DOID:9270 alkaptonuria ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:0050450 Gitelman syndrome ISO RGD:1322823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria PMID:25741868|PMID:28492532 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532|PMID:29140481 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532|PMID:29140481 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:1909 melanoma ISO RGD:1322823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:3211 lysosomal storage disease ISS RGD:1322824 D RGD:13592920 20180518 MouseDO 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:1624224|PMID:10581036 20070504 RGD Salla disease, OMIM:604369, infantile sialic acid storage disorder, OMIM:269920 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:7240710 20130221 OMIM 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28166811|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29654786|PMID:30243016|PMID:31130284|PMID:9536098 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:630 genetic disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532|PMID:29140481 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:9000742 Free Sialic Acid Storage Disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:7240710 20180207 OMIM 1311388 Slc17a5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284|PMID:7151835|PMID:7573152 1311389 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1322825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1311389 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:13938 amenorrhea ISO RGD:1322825 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1311389 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:2717 Bloom syndrome ISO RGD:1322825 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311389 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1322825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311389 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:9256 colorectal cancer ISO RGD:1322825 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322827 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:7240710 20180207 OMIM 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10803838|PMID:11313409|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7951244|PMID:9536098|PMID:9806546 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency PMID:10725724|PMID:10803838|PMID:11313409|PMID:11463838|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:27980538|PMID:28492532|PMID:28916186|PMID:30170160|PMID:32373116|PMID:34330684|PMID:7951244|PMID:9536098|PMID:9806546 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:10725724|PMID:11463838|PMID:25741868 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:627 severe combined immunodeficiency ISO RGD:1322827 D RGD:1599746|PMID:12618906 20070213 RGD 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:630 genetic disease ISO RGD:1322827 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311390 Rfxank regulatory factor X-associated ankyrin-containing protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:7240710 20140911 OMIM 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E PMID:12920088|PMID:24577744|PMID:25741868|PMID:28492532|PMID:28567303|PMID:30100179 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:10907 microcephaly ISO RGD:1605366 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1605366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311391 Vps53 VPS53 subunit of GARP complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 1311392 Il17rb interleukin 17 receptor B gene DOID:2841 asthma ISO RGD:1622351 D RGD:39128256|PMID:25273095 20201218 RGD associated with Picornaviridae Infections 1311392 Il17rb interleukin 17 receptor B gene DOID:630 genetic disease ISO RGD:1322830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:7240710 20220304 OMIM 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52 PMID:25741868|PMID:26566883 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:1059 intellectual disability ISO RGD:1322831 D RGD:8554872 20220304 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:3312 bipolar disorder ISO RGD:1322831 D RGD:11554173 20220304 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:4450 renal cell carcinoma ISO RGD:1322831 D RGD:11554173 20220304 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:5419 schizophrenia ISO RGD:1322831 D RGD:8554872 20220304 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:630 genetic disease ISO RGD:1322831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:9003904 Autosomal Dominant Intellectual Developmental Disorder 69 ISO RGD:1322831 D RGD:7240710 20220720 OMIM 1311393 Lman2l lectin, mannose-binding 2-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322831 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311395 Pgap6 post-GPI attachment to proteins 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1311395 Pgap6 post-GPI attachment to proteins 6 gene DOID:1826 epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1311395 Pgap6 post-GPI attachment to proteins 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311395 Pgap6 post-GPI attachment to proteins 6 gene DOID:630 genetic disease ISO RGD:1322834 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311396 Serinc2 serine incorporator 2 gene DOID:630 genetic disease ISO RGD:1322836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:12849 autistic disorder ISO RGD:1322838 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322838 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:630 genetic disease ISO RGD:1322838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:7240710 20210818 OMIM 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2 PMID:23661805|PMID:25741868|PMID:28492532 1311397 Slc41a1 solute carrier family 41 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322838 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311398 Il17f interleukin 17F gene DOID:630 genetic disease ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311398 Il17f interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:7240710 20140903 OMIM 1311398 Il17f interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 6 PMID:17576681|PMID:21350122|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290665|PMID:32185379|PMID:9536098 1311399 Ppcs phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:7240710 20190315 OMIM 1311399 Ppcs phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 1311399 Ppcs phosphopantothenoylcysteine synthetase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605955 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311399 Ppcs phosphopantothenoylcysteine synthetase gene DOID:630 genetic disease ISO RGD:1605955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311400 Atg16l2 autophagy related 16-like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1606757 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1311400 Atg16l2 autophagy related 16-like 2 gene DOID:1059 intellectual disability ISO RGD:1606757 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311400 Atg16l2 autophagy related 16-like 2 gene DOID:630 genetic disease ISO RGD:1606757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311401 Prpf40a pre-mRNA processing factor 40 homolog A gene DOID:630 genetic disease ISO RGD:1322844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311403 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1322847 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311403 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:630 genetic disease ISO RGD:1322847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311403 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:9006205 Animal Disease Models ISO RGD:1322847 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311404 Cops8 COP9 signalosome subunit 8 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1322849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1311404 Cops8 COP9 signalosome subunit 8 gene DOID:1059 intellectual disability ISO RGD:1322849 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311404 Cops8 COP9 signalosome subunit 8 gene DOID:630 genetic disease ISO RGD:1322849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311404 Cops8 COP9 signalosome subunit 8 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1322849 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1311405 Ankrd16 ankyrin repeat domain 16 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322851 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1311405 Ankrd16 ankyrin repeat domain 16 gene DOID:5419 schizophrenia ISO RGD:1322851 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311405 Ankrd16 ankyrin repeat domain 16 gene DOID:630 genetic disease ISO RGD:1322851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311406 Ncr2 natural cytotoxicity triggering receptor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1342633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311406 Ncr2 natural cytotoxicity triggering receptor 2 gene DOID:630 genetic disease ISO RGD:1342633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311406 Ncr2 natural cytotoxicity triggering receptor 2 gene DOID:905 Zellweger syndrome ISO RGD:1342633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311408 Gprc5c G protein-coupled receptor, class C, group 5, member C gene DOID:630 genetic disease ISO RGD:1322855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311409 Ppp6r1 protein phosphatase 6, regulatory subunit 1 gene DOID:0110936 nemaline myopathy 5 ISO RGD:1322857 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 1311409 Ppp6r1 protein phosphatase 6, regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322857 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1311409 Ppp6r1 protein phosphatase 6, regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1322857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311410 Rngtt RNA guanylyltransferase and 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1322859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311411 Ppie peptidylprolyl isomerase E gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322860 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311411 Ppie peptidylprolyl isomerase E gene DOID:630 genetic disease ISO RGD:1322860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15871139 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:7240710 20130731 OMIM 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy PMID:15871139|PMID:16199547|PMID:16790503|PMID:17576681|PMID:19387023|PMID:20065143|PMID:22777947|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24166474|PMID:24372704|PMID:24667528|PMID:24957181|PMID:25741868|PMID:26077850|PMID:26443248|PMID:26467025|PMID:26657515|PMID:26863430|PMID:26938784|PMID:27290639|PMID:27749535|PMID:27841215|PMID:27896110|PMID:27905264|PMID:28492532|PMID:28518168|PMID:28832562|PMID:28856750|PMID:29101630|PMID:29236641|PMID:29453417|PMID:32034746|PMID:32461654|PMID:32679198|PMID:9536098 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:1059 intellectual disability ISO RGD:1322863 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:1826 epilepsy ISO RGD:1322863 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:3652 Leigh disease ISO RGD:12390482 D RGD:9068941 20211008 OMIA Necrotising encephalopathy, subacute, of Leigh PMID:10664957|PMID:10912920|PMID:19466433|PMID:23469184|PMID:25117056|PMID:33081289|PMID:34544496|PMID:8844603 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:607 paraplegia ISO RGD:1322863 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:630 genetic disease ISO RGD:1322863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15871139|PMID:16790503|PMID:23423671|PMID:23482991|PMID:23742248|PMID:24166474|PMID:25741868|PMID:27749535|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:29236641|PMID:32461654 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:679 basal ganglia disease ISO RGD:1322863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19387023 1311413 Slc19a3 solute carrier family 19 member 3 gene DOID:784 chronic kidney disease IEP D RGD:7327184|PMID:21149507 20130913 RGD mRNA:decreased expression:liver, heart, jejunum (rat) 1311414 Zcchc4 zinc finger CCHC-type containing 4 gene DOID:630 genetic disease ISO RGD:1322864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1059 intellectual disability ISO RGD:1322866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1826 epilepsy ISO RGD:1322866 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:630 genetic disease ISO RGD:1322866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005|PMID:20562527 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322866 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1322866 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1311415 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1322866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 1311416 Lrrc38 leucine rich repeat containing 38 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1311416 Lrrc38 leucine rich repeat containing 38 gene DOID:630 genetic disease ISO RGD:1602439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:10084325|PMID:10367729|PMID:10383749|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:11000732|PMID:11167698|PMID:11378329|PMID:11722462|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:20184583|PMID:20357813|PMID:20555349|PMID:20598510|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24599399|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26707537|PMID:26763448|PMID:26833212|PMID:26864810|PMID:27153395|PMID:27408687|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29130490|PMID:29334134|PMID:29473190|PMID:29500833|PMID:29512197|PMID:29531004|PMID:30280950|PMID:31001817|PMID:31634165|PMID:31670143|PMID:31786163|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:33502061|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7883979|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8513326|PMID:8592061|PMID:8618004|PMID:8644729|PMID:8644730|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISS RGD:1322870 D RGD:13592920 20180518 MouseDO OMIM:226600 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Anonychia PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:35979658|PMID:8755915|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:7240710 20131030 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED PMID:10408773|PMID:10469344|PMID:10836608|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12735646|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17434045|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9856844|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20130221 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant PMID:10084325|PMID:10232408|PMID:10233777|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:11781296|PMID:11874498|PMID:11952672|PMID:12485454|PMID:12735646|PMID:12787275|PMID:14616374|PMID:15888141|PMID:16189623|PMID:16484981|PMID:16557343|PMID:1680286|PMID:16965329|PMID:16971478|PMID:17336503|PMID:17425959|PMID:17576681|PMID:18429782|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24033266|PMID:24794830|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7861014|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8345225|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9347800|PMID:9536098|PMID:9668111|PMID:9856843|PMID:9856844|PMID:9881948|PMID:9892921 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20130221 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa PMID:10408773|PMID:10504458|PMID:10583163|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17425959|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21471992|PMID:22058051|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24794830|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8218237|PMID:8541842|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9881948|PMID:9892921 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:7240710 20130221 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12207583|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16225626|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17434045|PMID:17501948|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20184583|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23786535|PMID:24033266|PMID:24317394|PMID:24533879|PMID:24599399|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:2653224|PMID:28492532|PMID:28830826|PMID:30280950|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9326325|PMID:9406826|PMID:9740253|PMID:9856844|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:7240710 20130221 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE PMID:10408773|PMID:10836608|PMID:11710955|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:2425097|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:28492532|PMID:28830826|PMID:29963685|PMID:30280950|PMID:32860008|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:8755915|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:11720 distal myopathy ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:2187 amelogenesis imperfecta ISO RGD:1322869 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:16484981|PMID:25741868|PMID:28492532 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322869 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:28492532 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:7240710 20131030 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24577406|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29334134|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:34046686|PMID:35979658|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica susceptibility ISO RGD:1322869 D RGD:1600946|PMID:8275094 20070402 RGD DNA:insertion-deletion 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:20920254|PMID:21448560|PMID:22058051|PMID:23786535|PMID:23947675|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:9326325 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:687 hepatoblastoma ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9000918 Disease Progression ISO RGD:1322869 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9001276 Failure to Thrive ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322869 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9003984 Hyperpigmentation ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9004739 Cicatrix ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Scarring PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9005879 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16271705|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18565177|PMID:19344236|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31001817|PMID:31930626|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9536098|PMID:9804332 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:7240710 20130221 OMIM 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive PMID:10367729|PMID:10383749|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17434045|PMID:17576681|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20598510|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:26467025|PMID:27899325|PMID:28492532|PMID:28830826|PMID:30280950|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9182828|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9718359|PMID:9856844|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658|PMID:8037207|PMID:9881948 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1311417 Col7a1 collagen type VII alpha 1 chain gene DOID:9008939 Breast Neoplasms ISO RGD:1322869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1311419 Dmtn dematin actin binding protein gene DOID:630 genetic disease ISO RGD:1322873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311419 Dmtn dematin actin binding protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1311420 Zfp574 zinc finger protein 574 gene DOID:0050888 syndromic intellectual disability ISO RGD:1322875 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 1311420 Zfp574 zinc finger protein 574 gene DOID:0080600 COVID-19 ISO RGD:1322875 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311420 Zfp574 zinc finger protein 574 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1311420 Zfp574 zinc finger protein 574 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1311420 Zfp574 zinc finger protein 574 gene DOID:2340 craniosynostosis ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 1311420 Zfp574 zinc finger protein 574 gene DOID:5419 schizophrenia ISO RGD:1322875 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311420 Zfp574 zinc finger protein 574 gene DOID:630 genetic disease ISO RGD:1322875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311420 Zfp574 zinc finger protein 574 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1311420 Zfp574 zinc finger protein 574 gene DOID:9269 maple syrup urine disease ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1311422 Hid1 HID1 domain containing gene DOID:630 genetic disease ISO RGD:1322878 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28600779 1311422 Hid1 HID1 domain containing gene DOID:9002700 Developmental and Epileptic Encephalopathy 105 ISO RGD:1322878 D RGD:7240710 20220810 OMIM 1311422 Hid1 HID1 domain containing gene DOID:9002700 Developmental and Epileptic Encephalopathy 105 ISO RGD:1322878 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism PMID:28600779|PMID:33999436 1311424 Gpatch11 G patch domain containing 11 gene DOID:630 genetic disease ISO RGD:1606673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311425 Ifna2 interferon alpha 2 gene DOID:10459 common cold treatment ISO D RGD:40886344|PMID:6381610 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:2043 hepatitis B treatment ISO D RGD:21406432|PMID:8509638 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886308|PMID:9187562 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886310|PMID:9310930 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886311|PMID:17881538 20201207 RGD associated with end stage renal disease 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886313|PMID:8868074 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886314|PMID:21272456 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886316|PMID:19152412 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO D RGD:40886318|PMID:7493300 20201207 RGD 1311425 Ifna2 interferon alpha 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO D RGD:40886317|PMID:22610944 20201207 RGD DNA:SNP:exon: p.Ala120Thr (human) 1311427 Fancl FA complementation group L gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1322885 D RGD:11049143|PMID:17409780 20160707 RGD 1311427 Fancl FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:7240710 20140911 OMIM 1311427 Fancl FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31980526|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:9536098 1311427 Fancl FA complementation group L gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322885 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:9536098 1311427 Fancl FA complementation group L gene DOID:0111766 X-linked VACTERL association ISO RGD:1322885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532|PMID:29625052 1311427 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973351|PMID:19405097 1311427 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28492532|PMID:29335925|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31513304|PMID:32789750|PMID:34008892|PMID:9536098 1311427 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 1311427 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 1311427 Fancl FA complementation group L gene DOID:14450 46 XX gonadal dysgenesis ISS RGD:1618380 D RGD:13592920 20180518 MouseDO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 1311427 Fancl FA complementation group L gene DOID:14679 VACTERL association ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532 1311427 Fancl FA complementation group L gene DOID:5426 primary ovarian insufficiency ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:19405097|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:27153395|PMID:28104920|PMID:28492532|PMID:31980526 1311427 Fancl FA complementation group L gene DOID:630 genetic disease ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:7240710 20171011 OMIM 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:16199547|PMID:17576681|PMID:22608502|PMID:22721650|PMID:24033266|PMID:25468195|PMID:25640679|PMID:25741868|PMID:25931386|PMID:26122175|PMID:26206937|PMID:26768763|PMID:27379089|PMID:28197149|PMID:28473463|PMID:28492532|PMID:28720148|PMID:28956255|PMID:29867916|PMID:30363934|PMID:31432443|PMID:31876783|PMID:31887391|PMID:32084423|PMID:32135276|PMID:32499645|PMID:32707200|PMID:33225392|PMID:33359885|PMID:33481921|PMID:33717114|PMID:34093558|PMID:34573280|PMID:9536098 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:10487 Hirschsprung's disease ISO RGD:1322886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:2843 long QT syndrome ISO RGD:1322886 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:5419 schizophrenia ISO RGD:1322886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:32499645 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:630 genetic disease ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28473463|PMID:28492532|PMID:31432443|PMID:34093558 1311428 Lrba LPS responsive beige-like anchor protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:1322886 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:7240710 20171011 OMIM 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:16199547|PMID:17576681|PMID:18628315|PMID:20301783|PMID:21094706|PMID:22544363|PMID:22544367|PMID:24056718|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25741877|PMID:26306646|PMID:26424144|PMID:26467025|PMID:26633545|PMID:28211987|PMID:28492532|PMID:29352316|PMID:29655203|PMID:30293248|PMID:33004838|PMID:9536098 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1605247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1605247 D RGD:8554872 20210615 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1605247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1605247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1605247 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24056718|PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:29352316|PMID:30293248 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:1605247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605247 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605247 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1605247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301783|PMID:22544363|PMID:22544367|PMID:25741868|PMID:25741877|PMID:28492532 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008582 Developmental Disease ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 1311429 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 1311430 Dzip1l DAZ interacting zinc finger protein 1-like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:7240710 20190315 OMIM 1311430 Dzip1l DAZ interacting zinc finger protein 1-like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 5 PMID:25741868|PMID:28492532|PMID:28530676 1311430 Dzip1l DAZ interacting zinc finger protein 1-like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1344571 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530676 1311430 Dzip1l DAZ interacting zinc finger protein 1-like gene DOID:630 genetic disease ISO RGD:1344571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1350073 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:7240710 20170301 OMIM 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28228640|PMID:28492532|PMID:8779323|PMID:9536098|PMID:9643297 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:13439710|PMID:25077174 20171011 RGD DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:7240710 20171011 OMIM 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A PMID:11092761|PMID:16199547|PMID:17576681|PMID:18478038|PMID:21739576|PMID:24767728|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:28492532|PMID:30244529|PMID:36067040|PMID:8779323|PMID:9536098 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:1350073 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070143 autosomal recessive cutis laxa type III ISO RGD:1350073 D RGD:13434922|PMID:24913064 20171009 RGD DNA:deletions:cds: 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070143 autosomal recessive cutis laxa type III ISO RGD:1350073 D RGD:13434923|PMID:26320891 20171009 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0070143 autosomal recessive cutis laxa type III ISO RGD:1350073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:8779323|PMID:9536098 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1350073 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:11056004|PMID:26297558 20171011 RGD DNA:mutations:cds:p.V243L, p.R252Q(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:7240710 20151021 OMIM 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31130284|PMID:31402623|PMID:32342562|PMID:32798076|PMID:33144682|PMID:8779323|PMID:9536098|PMID:9973297 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:7240710 20170412 OMIM 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:29915212|PMID:32798076|PMID:36067040 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type PMID:25741868|PMID:28492532|PMID:36067040 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:1059 intellectual disability ISO RGD:1350073 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:1283 enterocele ISO RGD:1350073 D RGD:13434923|PMID:26320891 20171009 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350073 D RGD:13434921|PMID:26026163 20171009 RGD DNA:mutations:cds: 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1350073 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:630 genetic disease ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:31402623|PMID:36067040|PMID:9973297 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:83 cataract ISO RGD:1350073 D RGD:13434923|PMID:26320891 20171009 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1350073 D RGD:13439711|PMID:18478038 20171011 RGD DNA:missense mutation;exon:2350C>T(p.H784Y)(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1350073 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350073 D RGD:13434923|PMID:26320891 20171009 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:9006205 Animal Disease Models ISO RGD:1350073 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311431 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1350073 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25077174|PMID:25326637|PMID:25741868 1311432 Sipa1l3 signal-induced proliferation-associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:7240710 20190315 OMIM 1311432 Sipa1l3 signal-induced proliferation-associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 45 PMID:25741868|PMID:25804400|PMID:28492532 1311432 Sipa1l3 signal-induced proliferation-associated 1 like 3 gene DOID:630 genetic disease ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311433 Mettl22 methyltransferase 22, Kin17 lysine gene DOID:630 genetic disease ISO RGD:1601964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311434 Ctnnal1 catenin alpha-like 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1322895 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 1311434 Ctnnal1 catenin alpha-like 1 gene DOID:630 genetic disease ISO RGD:1322895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311435 Ap1ar adaptor-related protein complex 1 associated regulatory protein gene DOID:12271 aniridia ISO RGD:1347570 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1311435 Ap1ar adaptor-related protein complex 1 associated regulatory protein gene DOID:630 genetic disease ISO RGD:1347570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1322900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358632 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1322900 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:7240710 20190424 OMIM 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:17576681|PMID:18414213|PMID:21358632|PMID:22333897|PMID:25741868|PMID:28492532|PMID:7710253|PMID:9536098 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1322900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:14330 Parkinson's disease ISO RGD:1322900 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 1311437 Orc6 origin recognition complex, subunit 6 gene DOID:630 genetic disease ISO RGD:1322900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311438 Pigh phosphatidylinositol glycan anchor biosynthesis, class H gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1322902 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1311438 Pigh phosphatidylinositol glycan anchor biosynthesis, class H gene DOID:10283 prostate cancer ISO RGD:1322902 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311438 Pigh phosphatidylinositol glycan anchor biosynthesis, class H gene DOID:630 genetic disease ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33156547|PMID:35445667 1311438 Pigh phosphatidylinositol glycan anchor biosynthesis, class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:7240710 20190315 OMIM 1311438 Pigh phosphatidylinositol glycan anchor biosynthesis, class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0080000 muscular disease ISO RGD:1322904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:1322904 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:24033266 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:7240710 20141015 OMIM 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis PMID:12215525|PMID:24033266|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:26387786|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29743074|PMID:30285736|PMID:31711431|PMID:32581362 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2717 Bloom syndrome ISO RGD:1322904 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2914 immune system disease ISO RGD:1322904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:421 hair disease ISO RGD:1322904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:38549370|PMID:32209028 20200901 RGD protein:decreased expression:lung 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease disease_progression IEP D RGD:38549370|PMID:32209028 20200901 RGD 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:630 genetic disease ISO RGD:1322904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1322904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:32581362 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 1311439 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1322904 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311440 Sccpdh saccharopine dehydrogenase (putative) gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1311440 Sccpdh saccharopine dehydrogenase (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1606286 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311440 Sccpdh saccharopine dehydrogenase (putative) gene DOID:630 genetic disease ISO RGD:1606286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311440 Sccpdh saccharopine dehydrogenase (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606286 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311441 Wnt7b Wnt family member 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322906 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1311441 Wnt7b Wnt family member 7B gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1322906 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868 1311441 Wnt7b Wnt family member 7B gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1322906 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome PMID:25741868 1311441 Wnt7b Wnt family member 7B gene DOID:1059 intellectual disability ISO RGD:1322906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311441 Wnt7b Wnt family member 7B gene DOID:11054 urinary bladder cancer ISO RGD:1322906 D RGD:2299932|PMID:9461004 20080821 RGD superficial, NOT invasive 1311441 Wnt7b Wnt family member 7B gene DOID:1612 breast cancer ISO RGD:1322906 D RGD:2298699|PMID:15492823 20080821 RGD 1311441 Wnt7b Wnt family member 7B gene DOID:1618 breast fibroadenoma ISO RGD:1322906 D RGD:2291878|PMID:8168088 20080821 RGD 1311441 Wnt7b Wnt family member 7B gene DOID:630 genetic disease ISO RGD:1322906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311441 Wnt7b Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322907 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1311441 Wnt7b Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1322907 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1311443 Rras RAS related gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 1311443 Rras RAS related gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1322910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1311443 Rras RAS related gene DOID:0080600 COVID-19 ISO RGD:1322910 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311443 Rras RAS related gene DOID:3490 Noonan syndrome ISO RGD:1322910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:9536098 1311443 Rras RAS related gene DOID:630 genetic disease ISO RGD:1322910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311443 Rras RAS related gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1311444 Pnpla8 patatin-like phospholipase domain containing 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603644 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311444 Pnpla8 patatin-like phospholipase domain containing 8 gene DOID:630 genetic disease ISO RGD:1603644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311444 Pnpla8 patatin-like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:7240710 20171011 OMIM 1311444 Pnpla8 patatin-like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis PMID:19840936|PMID:25512002|PMID:25741868|PMID:28492532|PMID:34782754 1311445 Dus4l dihydrouridine synthase 4-like gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:25741868|PMID:28492532 1311445 Dus4l dihydrouridine synthase 4-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602492 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311445 Dus4l dihydrouridine synthase 4-like gene DOID:5212 congenital disorder of glycosylation ISO RGD:1602492 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1311445 Dus4l dihydrouridine synthase 4-like gene DOID:630 genetic disease ISO RGD:1602492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311446 Prss3 serine protease 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1311446 Prss3 serine protease 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1311446 Prss3 serine protease 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1311446 Prss3 serine protease 3 gene DOID:11054 urinary bladder cancer ISO RGD:734183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 1311446 Prss3 serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311446 Prss3 serine protease 3 gene DOID:9870 galactosemia ISO RGD:734183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1311447 Snorc secondary ossification center associated regulator of chondrocyte maturation gene DOID:0060476 Perlman syndrome ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1311447 Snorc secondary ossification center associated regulator of chondrocyte maturation gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1311448 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0080490 mucolipidosis type IV ISO RGD:1322915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1311448 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1322915 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 1311448 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:630 genetic disease ISO RGD:1322915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311448 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:8501 fundus dystrophy ISO RGD:1322915 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1311448 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:7240710 20190315 OMIM 1311448 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 78 PMID:16199547|PMID:25741868|PMID:28132693|PMID:28492532|PMID:32581362 1311449 Tfip11 tuftelin interacting protein 11 gene DOID:0110271 cataract 23 ISO RGD:1322916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1311449 Tfip11 tuftelin interacting protein 11 gene DOID:630 genetic disease ISO RGD:1322916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311450 Rassf3 Ras association domain family member 3 gene DOID:630 genetic disease ISO RGD:1322918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311450 Rassf3 Ras association domain family member 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322918 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1311451 Nmral1 NmrA like redox sensor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1311451 Nmral1 NmrA like redox sensor 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603207 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1311451 Nmral1 NmrA like redox sensor 1 gene DOID:1826 epilepsy ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1311451 Nmral1 NmrA like redox sensor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311451 Nmral1 NmrA like redox sensor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1311451 Nmral1 NmrA like redox sensor 1 gene DOID:630 genetic disease ISO RGD:1603207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311452 Spata31d3 SPATA31 subfamily D, member 3 gene DOID:630 genetic disease ISO RGD:4140036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311453 Cd101 CD101 molecule gene DOID:630 genetic disease ISO RGD:1322923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311454 Btbd16 BTB domain containing 16 gene DOID:10283 prostate cancer ISO RGD:1322924 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311454 Btbd16 BTB domain containing 16 gene DOID:2340 craniosynostosis ISO RGD:1322924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1311454 Btbd16 BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1322924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311455 Mapk1ip1l mitogen-activated protein kinase 1 interacting protein 1-like gene DOID:630 genetic disease ISO RGD:1322925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311456 Mindy2 MINDY lysine 48 deubiquitinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1607025 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311456 Mindy2 MINDY lysine 48 deubiquitinase 2 gene DOID:630 genetic disease ISO RGD:1607025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311456 Mindy2 MINDY lysine 48 deubiquitinase 2 gene DOID:9256 colorectal cancer ISO RGD:1607025 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311457 Hypk Huntingtin interacting protein K gene DOID:2717 Bloom syndrome ISO RGD:1604376 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311457 Hypk Huntingtin interacting protein K gene DOID:630 genetic disease ISO RGD:1604376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311457 Hypk Huntingtin interacting protein K gene DOID:9256 colorectal cancer ISO RGD:1604376 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311458 Nepro nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:7240710 20200520 OMIM 1311458 Nepro nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 3 PMID:25741868|PMID:26633546|PMID:29620724|PMID:31250547 1311458 Nepro nucleolus and neural progenitor protein gene DOID:10907 microcephaly ISO RGD:1352471 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311458 Nepro nucleolus and neural progenitor protein gene DOID:630 genetic disease ISO RGD:1352471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311459 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322930 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1311459 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1322930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1311459 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1322930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311459 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1322930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1311461 Mmrn2 multimerin 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1322933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1311461 Mmrn2 multimerin 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1322933 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1311461 Mmrn2 multimerin 2 gene DOID:630 genetic disease ISO RGD:1322933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311462 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:7240710 20190315 OMIM 1311462 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356 1311462 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:3652 Leigh disease ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532|PMID:35141356 1311462 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:630 genetic disease ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311462 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:35141356 1311463 Arl14ep ADP-ribosylation factor like GTPase 14 effector protein gene DOID:1059 intellectual disability ISO RGD:1602076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1311463 Arl14ep ADP-ribosylation factor like GTPase 14 effector protein gene DOID:1059 intellectual disability ISO RGD:1602076 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311463 Arl14ep ADP-ribosylation factor like GTPase 14 effector protein gene DOID:630 genetic disease ISO RGD:1602076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311463 Arl14ep ADP-ribosylation factor like GTPase 14 effector protein gene DOID:9008086 Developmental Disabilities ISO RGD:1602076 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868 1311464 Fbxo39 F-box protein 39 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322937 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1311464 Fbxo39 F-box protein 39 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322937 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1311464 Fbxo39 F-box protein 39 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322937 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1311464 Fbxo39 F-box protein 39 gene DOID:12177 common variable immunodeficiency ISO RGD:1322937 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1311464 Fbxo39 F-box protein 39 gene DOID:2729 dyskeratosis congenita ISO RGD:1322937 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1311464 Fbxo39 F-box protein 39 gene DOID:630 genetic disease ISO RGD:1322937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311465 Lmln leishmanolysin like peptidase gene DOID:10283 prostate cancer ISO RGD:1322938 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311465 Lmln leishmanolysin like peptidase gene DOID:630 genetic disease ISO RGD:1322938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311466 Ccdc51 coiled-coil domain containing 51 gene DOID:630 genetic disease ISO RGD:1602866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311466 Ccdc51 coiled-coil domain containing 51 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311467 Myct1 myc target 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1322941 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 1311467 Myct1 myc target 1 gene DOID:630 genetic disease ISO RGD:1322941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311468 Slc16a12 solute carrier family 16, member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:7240710 20130221 OMIM 1311468 Slc16a12 solute carrier family 16, member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria PMID:17458810|PMID:18304496|PMID:21778275|PMID:24281366|PMID:25741868|PMID:26376857|PMID:26694549|PMID:28492532 1311468 Slc16a12 solute carrier family 16, member 12 gene DOID:12270 coloboma ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:24281366|PMID:25741868|PMID:28492532 1311468 Slc16a12 solute carrier family 16, member 12 gene DOID:14497 Wolman disease ISO RGD:1606094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 1311468 Slc16a12 solute carrier family 16, member 12 gene DOID:630 genetic disease ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311468 Slc16a12 solute carrier family 16, member 12 gene DOID:83 cataract ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 1311469 Clk1 CDC-like kinase 1 gene DOID:630 genetic disease ISO RGD:1322944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311469 Clk1 CDC-like kinase 1 gene DOID:8469 influenza ISO RGD:1550637 D RGD:155641258|PMID:34883209 20221107 RGD 1311469 Clk1 CDC-like kinase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322944 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1311469 Clk1 CDC-like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322944 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311470 Psmd3 proteasome 26S subunit, non-ATPase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1322945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1311470 Psmd3 proteasome 26S subunit, non-ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1311470 Psmd3 proteasome 26S subunit, non-ATPase 3 gene DOID:630 genetic disease ISO RGD:1322945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311471 Prrx2 paired related homeobox 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311471 Prrx2 paired related homeobox 2 gene DOID:630 genetic disease ISO RGD:1322947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0060340 ciliopathy ISS RGD:1322950 D RGD:13592920 20220714 MouseDO 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322949 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0080072 intestinal pseudo-obstruction ISS RGD:1322950 D RGD:13592920 20180518 MouseDO OMIM:243180 | OMIM:601223 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0080600 COVID-19 ISO RGD:1322949 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322949 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 PMID:25741868|PMID:25741914|PMID:25782674 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1322949 D RGD:7240710 20190502 OMIM 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:630 genetic disease ISO RGD:1322949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:674 cleft palate ISO RGD:1322949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:850 lung disease ISO RGD:1322949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24210189 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15136453 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9164 achalasia ISS RGD:1322950 D RGD:13592920 20180518 MouseDO OMIM:200400 1311472 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9296 cleft lip ISO RGD:1322949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 1311473 Ptcd1 pentatricopeptide repeat domain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5013862 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311473 Ptcd1 pentatricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:5013862 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311473 Ptcd1 pentatricopeptide repeat domain 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:5013862 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:20818383|PMID:25741868 1311474 Tmem120a transmembrane protein 120A gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:1605325 D RGD:8554872 20210504 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 1311474 Tmem120a transmembrane protein 120A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605325 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311474 Tmem120a transmembrane protein 120A gene DOID:630 genetic disease ISO RGD:1605325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311474 Tmem120a transmembrane protein 120A gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605325 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1311475 Ccdc88b coiled-coil domain containing 88B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311475 Ccdc88b coiled-coil domain containing 88B gene DOID:1024 leprosy ISO RGD:1603867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 1311475 Ccdc88b coiled-coil domain containing 88B gene DOID:1059 intellectual disability ISO RGD:1603867 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311475 Ccdc88b coiled-coil domain containing 88B gene DOID:3070 high grade glioma ISO RGD:1603867 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311475 Ccdc88b coiled-coil domain containing 88B gene DOID:630 genetic disease ISO RGD:1603867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603968 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603968 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603968 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603968 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:440 neuromuscular disease ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:33459760 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1603968 D RGD:7240710 20210414 OMIM 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1603968 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features PMID:25741868|PMID:33459760 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603968 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603968 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1311476 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311477 Sf3a1 splicing factor 3A subunit 1 gene DOID:630 genetic disease ISO RGD:1322957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311479 Pcgf3 polycomb group ring finger 3 gene DOID:1856 cherubism ISO RGD:1344033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1311479 Pcgf3 polycomb group ring finger 3 gene DOID:630 genetic disease ISO RGD:1344033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311479 Pcgf3 polycomb group ring finger 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1344033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 1311480 Xcr1 X-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1322962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311480 Xcr1 X-C motif chemokine receptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1602989 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:1602989 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1909 melanoma ISO RGD:1602989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:2746 glycogen storage disease V ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:3070 high grade glioma ISO RGD:1602989 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311481 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1602989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311483 Kpna4 karyopherin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1322966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311484 Fam234a family with sequence similarity 234, member A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1311484 Fam234a family with sequence similarity 234, member A gene DOID:1826 epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1311484 Fam234a family with sequence similarity 234, member A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311484 Fam234a family with sequence similarity 234, member A gene DOID:630 genetic disease ISO RGD:1345598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311484 Fam234a family with sequence similarity 234, member A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345598 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1311485 Parvb parvin, beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322969 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1311485 Parvb parvin, beta gene DOID:1059 intellectual disability ISO RGD:1322969 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311485 Parvb parvin, beta gene DOID:630 genetic disease ISO RGD:1322969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606003 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:3312 bipolar disorder ISO RGD:1606003 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:5812 MHC class II deficiency ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:630 genetic disease ISO RGD:1606003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311487 Plekho1 pleckstrin homology domain containing O1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606003 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:7240710 20130221 OMIM 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome PMID:10369256|PMID:10805333|PMID:11355015|PMID:11552031|PMID:11668643|PMID:12807890|PMID:14759633|PMID:16199547|PMID:16376511|PMID:16601889|PMID:16940241|PMID:17576681|PMID:17825324|PMID:18376250|PMID:18406340|PMID:18666241|PMID:18978333|PMID:19242930|PMID:22292090|PMID:22649802|PMID:23430880|PMID:24473688|PMID:25741868|PMID:25818551|PMID:25874378|PMID:26589310|PMID:28492532|PMID:29554876|PMID:30187369|PMID:30243302|PMID:31443672|PMID:31589614|PMID:32214227|PMID:32340404|PMID:3407856|PMID:9536098 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:1059 intellectual disability ISO RGD:1322973 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:630 genetic disease ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601889|PMID:19242930|PMID:25741868|PMID:25874378|PMID:26589310|PMID:28492532|PMID:30187369|PMID:30243302 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:9008972 Hyperammonemia ISO RGD:1322973 D RGD:1599239|PMID:10369256 20070122 RGD 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:9008972 Hyperammonemia ISO RGD:1322973 D RGD:1599240|PMID:10805333 20070122 RGD 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322973 D RGD:1599239|PMID:10369256 20070122 RGD 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322973 D RGD:1599240|PMID:10805333 20070122 RGD 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:9273 citrullinemia ISO RGD:1322973 D RGD:1599239|PMID:10369256 20070122 RGD 1311488 Slc25a15 solute carrier family 25 member 15 gene DOID:9273 citrullinemia ISO RGD:1322973 D RGD:1599240|PMID:10805333 20070122 RGD 1311490 Tbc1d10c TBC1 domain family, member 10C gene DOID:1059 intellectual disability ISO RGD:1606878 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311490 Tbc1d10c TBC1 domain family, member 10C gene DOID:630 genetic disease ISO RGD:1606878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311490 Tbc1d10c TBC1 domain family, member 10C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311490 Tbc1d10c TBC1 domain family, member 10C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311491 Xpo6 exportin 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1311491 Xpo6 exportin 6 gene DOID:303 substance-related disorder ISO RGD:1322976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1311491 Xpo6 exportin 6 gene DOID:630 genetic disease ISO RGD:1322976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311492 Hinfp histone H4 transcription factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1603667 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0080690 RASopathy ISO RGD:1603667 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1603667 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1603667 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1311492 Hinfp histone H4 transcription factor gene DOID:5419 schizophrenia ISO RGD:1603667 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311492 Hinfp histone H4 transcription factor gene DOID:630 genetic disease ISO RGD:1603667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311492 Hinfp histone H4 transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603667 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311492 Hinfp histone H4 transcription factor gene DOID:9007661 Dwarfism ISO RGD:1603667 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311493 Atxn7l3 ataxin 7-like 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1342958 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 1311493 Atxn7l3 ataxin 7-like 3 gene DOID:630 genetic disease ISO RGD:1342958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1322982 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322982 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:2671 transitional cell carcinoma ISO RGD:1322982 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:3717 gastric adenocarcinoma ISO RGD:1322982 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322982 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:8923 skin melanoma ISO RGD:1322982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25741868|PMID:26619011 1311495 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322982 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26619011 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322984 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:10907 microcephaly ISO RGD:1322984 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1322984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1322984 D RGD:153344549|PMID:30710422 20220824 RGD human cells in mouse model 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322984 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311496 Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311497 Stam2 signal transducing adaptor molecule 2 gene DOID:630 genetic disease ISO RGD:1322986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311498 Slc25a17 solute carrier family 25 member 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1311498 Slc25a17 solute carrier family 25 member 17 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 1311498 Slc25a17 solute carrier family 25 member 17 gene DOID:630 genetic disease ISO RGD:1322988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311499 Myadml2 myeloid-associated differentiation marker-like 2 gene DOID:630 genetic disease ISO RGD:2303467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311500 Igsf8 immunoglobulin superfamily, member 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1322991 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 1311500 Igsf8 immunoglobulin superfamily, member 8 gene DOID:0060484 EAST syndrome ISO RGD:1322991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 1311500 Igsf8 immunoglobulin superfamily, member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1311500 Igsf8 immunoglobulin superfamily, member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1322991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311500 Igsf8 immunoglobulin superfamily, member 8 gene DOID:630 genetic disease ISO RGD:1322991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311500 Igsf8 immunoglobulin superfamily, member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322991 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322993 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322993 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1311501 Cacfd1 calcium channel flower domain containing 1 gene DOID:630 genetic disease ISO RGD:1322993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311502 Ston2 stonin 2 gene DOID:630 genetic disease ISO RGD:1604566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311504 Srpra SRP receptor subunit alpha gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322997 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 1311504 Srpra SRP receptor subunit alpha gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1311504 Srpra SRP receptor subunit alpha gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322997 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311504 Srpra SRP receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1322997 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311504 Srpra SRP receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1322997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311504 Srpra SRP receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322997 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311504 Srpra SRP receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:1322997 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311505 Fbxo38 F-box protein 38 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311505 Fbxo38 F-box protein 38 gene DOID:0111206 distal hereditary motor neuronopathy type 2 ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:16199547|PMID:17576681|PMID:24207122|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957|PMID:9536098 1311505 Fbxo38 F-box protein 38 gene DOID:0111210 distal hereditary motor neuronopathy type 2D ISO RGD:1322999 D RGD:7240710 20140911 OMIM 1311505 Fbxo38 F-box protein 38 gene DOID:0111210 distal hereditary motor neuronopathy type 2D ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D PMID:24207122|PMID:25741868|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957 1311505 Fbxo38 F-box protein 38 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 1311505 Fbxo38 F-box protein 38 gene DOID:12377 spinal muscular atrophy ISO RGD:1322999 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 1311505 Fbxo38 F-box protein 38 gene DOID:630 genetic disease ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 1311505 Fbxo38 F-box protein 38 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322999 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311505 Fbxo38 F-box protein 38 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311507 Gfod1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:3393 coronary artery disease ISO RGD:1323002 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 1311507 Gfod1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311508 Osbpl9 oxysterol binding protein-like 9 gene DOID:630 genetic disease ISO RGD:1323003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1323005 D RGD:155598682|PMID:22966016 20221019 RGD mRNA:decreased expression:colorectum (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060058 lymphoma susceptibility ISO RGD:1622854 D RGD:11567233|PMID:11238917 20161202 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060240 UV-sensitive syndrome ISO RGD:1323005 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26972010 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1323005 D RGD:155260341|PMID:28665687 20221004 RGD human cell line in a mouse model 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10196384|PMID:10767341|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1323005 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:28492532 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B IMP D RGD:126925983|PMID:31644904 20210525 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18446857|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25251875|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:30842647|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32860008|PMID:7063265|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098|PMID:9777763 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080910 cerebrooculofacioskeletal syndrome ISO RGD:1323005 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:10401092|PMID:20456449 20150925 RGD DNA:point mutation: :c.3862C>T (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:10401101|PMID:10739753 20150925 RGD DNA:nonsense mutation 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:10196384|PMID:10739753|PMID:10767341|PMID:11809892|PMID:1339317|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10196384|PMID:10767341|PMID:16754848|PMID:17576681|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879|PMID:9536098 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10767341 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25677497|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26218421|PMID:26620705|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34005834|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1622854 D RGD:11567237|PMID:25762674 20161202 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:155260339|PMID:27340861 20221003 RGD DNA:SNP:enhancer: (rs1917799) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:155260342|PMID:30417012 20221004 RGD mRNA:increased expression:stomach (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10629 microphthalmia ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10907 microcephaly ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10739753|PMID:18628313 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11372 megacolon ISO RGD:1323005 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer disease_progression ISO RGD:1323005 D RGD:11567235|PMID:17855454 20161202 RGD DNA:SNPs: :p.G399D, p.Q1413R (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer no_association ISO RGD:1323005 D RGD:11567231|PMID:18789574 20161202 RGD DNA:SNPs: :multiple 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:11561791|PMID:17854076 20161202 RGD DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:155260338|PMID:10910954 20221003 RGD mRNA:decreased expression:lung (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1323005 D RGD:155260345|PMID:35135151 20221004 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14261 fragile X syndrome ISO RGD:1622854 D RGD:10401097|PMID:24352881 20150925 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1749 squamous cell carcinoma severity ISO RGD:1622854 D RGD:10401099|PMID:9150142 20150925 RGD associated with Cockayne Syndrome 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:224 transient cerebral ischemia IEP D RGD:10401104|PMID:10437118 20150925 RGD mRNA, protein:increased expression:cerebral cortex 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2596 larynx cancer susceptibility ISO RGD:1323005 D RGD:155260337|PMID:19444904 20221003 RGD DNA:missense mutation:CDS:p.R1230P (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:10401095|PMID:18446857 20150925 RGD DNA:insertion: :c.1034_1035insT (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:10401100|PMID:23599700 20150925 RGD DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:9443879|PMID:10739753|PMID:10767341|PMID:22466610|PMID:22466612|PMID:25440059|PMID:26972010 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:11567232|PMID:25463447 20161202 RGD DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:9443879 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3355 fibrosarcoma susceptibility ISO RGD:1622854 D RGD:11567233|PMID:11238917 20161202 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3525 middle cerebral artery infarction IEP D RGD:10401103|PMID:9974119 20150925 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3905 lung carcinoma ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10196384|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323005 D RGD:155260344|PMID:31615563 20221004 RGD mRNA, protein:increased expression:lung (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1323005 D RGD:153323316|PMID:28924235 20221004 RGD DNA:SNP:intron: (rs4253002) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3910 lung adenocarcinoma ISO RGD:1323005 D RGD:155260344|PMID:31615563 20221004 RGD mRNA, protein:increased expression:lung (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16754848 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration onset ISO RGD:1323005 D RGD:10401096|PMID:21072178 20150925 RGD 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5419 schizophrenia ISO RGD:1323005 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20456449|PMID:23311583|PMID:23428416|PMID:25251875|PMID:25741868|PMID:27004399|PMID:28440418|PMID:28492532|PMID:29572252|PMID:7063265|PMID:9443879 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1323005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:28492532 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002644 Premature Aging ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1323005 D RGD:153323316|PMID:28924235 20221004 RGD associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004538 Hearing Loss ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17854076 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:11567231|PMID:18789574 20161202 RGD DNA:SNPs: :rs3793784, rs12571445 (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006257 Growth Disorders ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10196384|PMID:10767341|PMID:15486090|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:7264357|PMID:9443879|PMID:9777763 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 susceptibility ISO RGD:1323005 D RGD:7240710 20230517 OMIM 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008514 Psychomotor Disorders ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:155260343|PMID:16951227 20221004 RGD mRNA:increased expression:colorectum (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:155260348|PMID:29151331 20221004 RGD DNA:SNP:exon: (rs2228526) (human) 1311509 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323005 D RGD:155260340|PMID:17119055 20221003 RGD DNA:missense mutation:CDS:p.R1213G (human) 1311511 Inpp5b inositol polyphosphate-5-phosphatase B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1342739 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311511 Inpp5b inositol polyphosphate-5-phosphatase B gene DOID:630 genetic disease ISO RGD:1342739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311511 Inpp5b inositol polyphosphate-5-phosphatase B gene DOID:9007045 Dent Disease 2 ISO RGD:1342739 D RGD:8554872 20200519 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:28018608 1311512 Kat8 lysine acetyltransferase 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1323009 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1311512 Kat8 lysine acetyltransferase 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323009 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27768893 1311512 Kat8 lysine acetyltransferase 8 gene DOID:1612 breast cancer severity ISO RGD:1323009 D RGD:9586031|PMID:22199269 20140925 RGD mRNA:increased expression:breast (human) 1311512 Kat8 lysine acetyltransferase 8 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323009 D RGD:9586034|PMID:23394073 20140925 RGD mRNA, protein:decreased expression:kidney (human) 1311512 Kat8 lysine acetyltransferase 8 gene DOID:6000 congestive heart failure ISO RGD:1323009 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27768893 1311512 Kat8 lysine acetyltransferase 8 gene DOID:630 genetic disease ISO RGD:1323009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31794431 1311512 Kat8 lysine acetyltransferase 8 gene DOID:9000897 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ISO RGD:1323009 D RGD:7240710 20201216 OMIM 1311512 Kat8 lysine acetyltransferase 8 gene DOID:9000897 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ISO RGD:1323009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome PMID:25741868|PMID:31794431 1311512 Kat8 lysine acetyltransferase 8 gene DOID:9003936 Cardiomegaly ISO RGD:1323010 D RGD:9586036|PMID:24802406 20140925 RGD mRNA, protein:decreased expression:heart (mouse) 1311512 Kat8 lysine acetyltransferase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1323009 D RGD:9586036|PMID:24802406 20140925 RGD human gene in a mouse model 1311513 Cd226 CD226 molecule gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323011 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1311513 Cd226 CD226 molecule gene DOID:289 endometriosis ISO RGD:1323011 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1311513 Cd226 CD226 molecule gene DOID:630 genetic disease ISO RGD:1323011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311513 Cd226 CD226 molecule gene DOID:6420 pulmonary valve stenosis ISO RGD:1323011 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1311513 Cd226 CD226 molecule gene DOID:8445 intestinal volvulus ISO RGD:1323011 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1311513 Cd226 CD226 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1323011 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1311513 Cd226 CD226 molecule gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1323011 D RGD:9068941 20201118 RGD PMID:21695691|REF_RGD_ID:40818295 1311513 Cd226 CD226 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323011 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311513 Cd226 CD226 molecule gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323011 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1311513 Cd226 CD226 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323011 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 1311513 Cd226 CD226 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1323011 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 1311514 Trim14 tripartite motif-containing 14 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1311514 Trim14 tripartite motif-containing 14 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1311514 Trim14 tripartite motif-containing 14 gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323013 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 1311514 Trim14 tripartite motif-containing 14 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1311514 Trim14 tripartite motif-containing 14 gene DOID:1059 intellectual disability ISO RGD:1323013 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311514 Trim14 tripartite motif-containing 14 gene DOID:12712 nephronophthisis ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1311514 Trim14 tripartite motif-containing 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1311514 Trim14 tripartite motif-containing 14 gene DOID:630 genetic disease ISO RGD:1323013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311514 Trim14 tripartite motif-containing 14 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323013 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1311515 Paqr9 progestin and adipoQ receptor family member 9 gene DOID:630 genetic disease ISO RGD:1323015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311515 Paqr9 progestin and adipoQ receptor family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311516 Mrps10 mitochondrial ribosomal protein S10 gene DOID:0050444 infantile Refsum disease ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311516 Mrps10 mitochondrial ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:1323017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311516 Mrps10 mitochondrial ribosomal protein S10 gene DOID:905 Zellweger syndrome ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606269 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606269 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606269 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:630 genetic disease ISO RGD:1606269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606269 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606269 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1311517 C5h1orf159 similar to human chromosome 1 open reading frame 159 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0050439 Usher syndrome ISO RGD:1604372 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604372 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604372 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:28492532 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604372 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:7240710 20140903 OMIM 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 2 PMID:16199547|PMID:20967465|PMID:23420520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904|PMID:32870266 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:7240710 20130731 OMIM 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:16532399|PMID:23420520|PMID:24891604|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10629 microphthalmia ISO RGD:1604372 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10907 microcephaly ISO RGD:1604372 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:13938 amenorrhea ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604372 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:630 genetic disease ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:83 cataract ISO RGD:1604372 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604372 D RGD:11554173 20230221 CTD CTD Direct Evidence: marker/mechanism 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:16199547|PMID:16532399|PMID:17576681|PMID:18414213|PMID:23420520|PMID:24033266|PMID:24891604|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29300443|PMID:29419336|PMID:32740904|PMID:32870266|PMID:9536098 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1604372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32870266 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1604372 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1311518 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604372 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311519 Cfap61 cilia and flagella associated protein 61 gene DOID:0070311 oligoasthenoteratozoospermia ISS RGD:1618265 D RGD:13592920 20230413 MouseDO 1311519 Cfap61 cilia and flagella associated protein 61 gene DOID:630 genetic disease ISO RGD:1323021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311520 Cep85 centrosomal protein 85 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1604312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1311520 Cep85 centrosomal protein 85 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1604312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1311520 Cep85 centrosomal protein 85 gene DOID:630 genetic disease ISO RGD:1604312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311521 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:3669 intermittent claudication treatment IMP D RGD:10395378|PMID:21771896 20160129 RGD 1311521 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:3910 lung adenocarcinoma ISO RGD:1323023 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311521 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:630 genetic disease ISO RGD:1323023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311521 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:9000998 Brain Injuries treatment IMP D RGD:10395371|PMID:22960363 20160129 RGD 1311521 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:9006205 Animal Disease Models ISO RGD:1323023 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1311522 Xpo5 exportin 5 gene DOID:0050444 infantile Refsum disease ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311522 Xpo5 exportin 5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 1311522 Xpo5 exportin 5 gene DOID:12858 Huntington's disease ISO RGD:1323026 D RGD:11041745|PMID:21035445 20160328 RGD mRNA:increased expression:striatum (mouse) 1311522 Xpo5 exportin 5 gene DOID:1612 breast cancer susceptibility ISO RGD:1323025 D RGD:11041726|PMID:21552306 20160328 RGD DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human) 1311522 Xpo5 exportin 5 gene DOID:1793 pancreatic cancer ISO RGD:1323026 D RGD:11041739|PMID:26516699 20160328 RGD mRNA:decreased expression:pancreas (mouse) 1311522 Xpo5 exportin 5 gene DOID:2154 nephroblastoma ISO RGD:1323025 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1311522 Xpo5 exportin 5 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1323025 D RGD:11041723|PMID:22766726 20160328 RGD mRNA:increased expression:urothelium (human) 1311522 Xpo5 exportin 5 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1323025 D RGD:11041736|PMID:21799879 20160328 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) 1311522 Xpo5 exportin 5 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1323025 D RGD:11041738|PMID:24648983 20160328 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) 1311522 Xpo5 exportin 5 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1323025 D RGD:11041728|PMID:23549446 20160328 RGD DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human) 1311522 Xpo5 exportin 5 gene DOID:630 genetic disease ISO RGD:1323025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311522 Xpo5 exportin 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1323025 D RGD:11041737|PMID:24676133 20160328 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) 1311522 Xpo5 exportin 5 gene DOID:9000027 Microsatellite Instability ISO RGD:1323025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 1311522 Xpo5 exportin 5 gene DOID:9008914 Lead Poisoning ISO RGD:1323025 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:28042866 1311522 Xpo5 exportin 5 gene DOID:905 Zellweger syndrome ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1311522 Xpo5 exportin 5 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323025 D RGD:11041733|PMID:26147304 20160328 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) 1311522 Xpo5 exportin 5 gene DOID:9538 multiple myeloma severity ISO RGD:1323025 D RGD:11041735|PMID:22539802 20160328 RGD DNA:snp:3' utr:c.*659A>C (rs11077) (human) 1311523 Galnt9 polypeptide N-acetylgalactosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:69656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311525 Nup93 nucleoporin 93 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311525 Nup93 nucleoporin 93 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 1311525 Nup93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:7240710 20190315 OMIM 1311525 Nup93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 12 PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:33532864 1311525 Nup93 nucleoporin 93 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311525 Nup93 nucleoporin 93 gene DOID:1184 nephrotic syndrome ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:30655312|PMID:33532864 1311525 Nup93 nucleoporin 93 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1323029 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:32581362 1311525 Nup93 nucleoporin 93 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311525 Nup93 nucleoporin 93 gene DOID:630 genetic disease ISO RGD:1323029 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1604624 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:630 genetic disease ISO RGD:1604624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:7240710 20190315 OMIM 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: DFNM1 PMID:29408807 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604624 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1311526 Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604624 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311527 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:7240710 20151216 OMIM 1311527 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic ataxia 3 PMID:22448145|PMID:25741868|PMID:28492532 1311527 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:7240710 20170301 OMIM 1311527 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 PMID:25741868|PMID:25754315 1311527 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1349073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311527 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349073 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311528 Slc36a4 solute carrier family 36 member 4 gene DOID:1059 intellectual disability ISO RGD:1323033 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311528 Slc36a4 solute carrier family 36 member 4 gene DOID:630 genetic disease ISO RGD:1323033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311529 Tox3 TOX high mobility group box family member 3 gene DOID:630 genetic disease ISO RGD:1323035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311529 Tox3 TOX high mobility group box family member 3 gene DOID:9000357 Male Breast Neoplasms ISO RGD:1323035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 1311529 Tox3 TOX high mobility group box family member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1323035 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1311529 Tox3 TOX high mobility group box family member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 1311530 Tmem108 transmembrane protein 108 gene DOID:12712 nephronophthisis ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 1311530 Tmem108 transmembrane protein 108 gene DOID:630 genetic disease ISO RGD:1604309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311530 Tmem108 transmembrane protein 108 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604309 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1311530 Tmem108 transmembrane protein 108 gene DOID:9270 alkaptonuria ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311532 Tmem106c transmembrane protein 106C gene DOID:630 genetic disease ISO RGD:1601972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311533 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:2717 Bloom syndrome ISO RGD:1604925 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311533 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:607 paraplegia ISO RGD:1604925 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1311533 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:630 genetic disease ISO RGD:1604925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311533 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:9256 colorectal cancer ISO RGD:1604925 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311534 Oxnad1 oxidoreductase NAD-binding domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1603935 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1311534 Oxnad1 oxidoreductase NAD-binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323042 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:15329069|PMID:23542697|PMID:24814846|PMID:25741868|PMID:28492532|PMID:28549235|PMID:31639411 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1323042 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome PMID:25741868|PMID:28492532 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:28549235|PMID:31639411 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1059 intellectual disability ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23542697|PMID:23542701|PMID:25741868|PMID:26467025|PMID:28492532 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28166811|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30093711 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30767899|PMID:32848577 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:16199547|PMID:23542697|PMID:23542701|PMID:25623524|PMID:25741868|PMID:28492532|PMID:30093711 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3070 high grade glioma ISO RGD:1323042 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24591017|PMID:25366275|PMID:25741868|PMID:26505888|PMID:28166811|PMID:28492532|PMID:29358611 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:630 genetic disease ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14510823|PMID:16199547|PMID:17576681|PMID:20864493|PMID:22780917|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:28102150|PMID:28170089|PMID:28492532|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:30093711|PMID:30427063|PMID:30767899|PMID:31139143|PMID:31594065|PMID:32848577|PMID:9536098|PMID:9851433 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1323042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21725309 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542697|PMID:23542701 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:7240710 20130731 OMIM 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 | ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:10577924|PMID:10825362|PMID:14510823|PMID:15329069|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20864493|PMID:22406018|PMID:22780917|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25989649|PMID:26000329|PMID:26216793|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066544|PMID:27066554|PMID:27066565|PMID:27159400|PMID:27173016|PMID:28102150|PMID:28166811|PMID:28170089|PMID:28199897|PMID:28492532|PMID:28549235|PMID:28677221|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30166713|PMID:30427063|PMID:30525188|PMID:30767899|PMID:31139143|PMID:31594065|PMID:31639411|PMID:31875159|PMID:31957018|PMID:32086284|PMID:32848577|PMID:34239491|PMID:9536098|PMID:9851433 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1323042 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1323042 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1311535 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008582 Developmental Disease ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311536 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1311536 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1323044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311536 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311536 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1311536 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:630 genetic disease ISO RGD:1323044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311537 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323046 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311537 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:630 genetic disease ISO RGD:1323046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311537 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1323046 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1311537 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323046 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311538 Tbca tubulin folding cofactor A gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1323048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 1311538 Tbca tubulin folding cofactor A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 1311538 Tbca tubulin folding cofactor A gene DOID:630 genetic disease ISO RGD:1323048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311538 Tbca tubulin folding cofactor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323048 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311539 Ints9 integrator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1603989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311540 Rae1 ribonucleic acid export 1 gene DOID:630 genetic disease ISO RGD:1323051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311541 Mmp17 matrix metallopeptidase 17 gene DOID:630 genetic disease ISO RGD:1323053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311542 Vasp vasodilator-stimulated phosphoprotein gene DOID:630 genetic disease ISO RGD:1323055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311542 Vasp vasodilator-stimulated phosphoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311543 Steap1 STEAP family member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323057 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311543 Steap1 STEAP family member 1 gene DOID:630 genetic disease ISO RGD:1323057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311544 Fam89b family with sequence similarity 89, member B gene DOID:1059 intellectual disability ISO RGD:1606565 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311544 Fam89b family with sequence similarity 89, member B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311544 Fam89b family with sequence similarity 89, member B gene DOID:2746 glycogen storage disease V ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311544 Fam89b family with sequence similarity 89, member B gene DOID:3070 high grade glioma ISO RGD:1606565 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311544 Fam89b family with sequence similarity 89, member B gene DOID:630 genetic disease ISO RGD:1606565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311544 Fam89b family with sequence similarity 89, member B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311544 Fam89b family with sequence similarity 89, member B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1311545 Polr3c RNA polymerase III subunit C gene DOID:1227 neutropenia ISO RGD:1323060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1311545 Polr3c RNA polymerase III subunit C gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1311545 Polr3c RNA polymerase III subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1323060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311545 Polr3c RNA polymerase III subunit C gene DOID:5419 schizophrenia ISO RGD:1323060 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311545 Polr3c RNA polymerase III subunit C gene DOID:630 genetic disease ISO RGD:1323060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311545 Polr3c RNA polymerase III subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323060 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:10652 Alzheimer's disease treatment ISO RGD:1550286 D RGD:13703122|PMID:28588301 20180803 RGD 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:10652 Alzheimer's disease treatment ISO RGD:1550286 D RGD:13703123|PMID:29926633 20180803 RGD 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1349695 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:5812 MHC class II deficiency ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:630 genetic disease ISO RGD:1349695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311546 Aph1a aph-1 homolog A, gamma secretase subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349695 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311547 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1311547 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:1059 intellectual disability ISO RGD:1607047 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311547 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:630 genetic disease ISO RGD:1607047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311547 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607047 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1311547 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:7240710 20210804 OMIM 1311547 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive PMID:33199730 1311549 Rasgef1c RasGEF domain family, member 1C gene DOID:630 genetic disease ISO RGD:1323065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311550 Rxfp3 relaxin family peptide receptor 3 gene DOID:630 genetic disease ISO RGD:1352408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311550 Rxfp3 relaxin family peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352408 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311551 Amfr autocrine motility factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311551 Amfr autocrine motility factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311551 Amfr autocrine motility factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:1323068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22313999 1311551 Amfr autocrine motility factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:1323068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 1311551 Amfr autocrine motility factor receptor gene DOID:13938 amenorrhea ISO RGD:1323068 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1311551 Amfr autocrine motility factor receptor gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1311551 Amfr autocrine motility factor receptor gene DOID:3007 breast ductal carcinoma ISO RGD:1323068 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1311551 Amfr autocrine motility factor receptor gene DOID:630 genetic disease ISO RGD:1323068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311551 Amfr autocrine motility factor receptor gene DOID:9000918 Disease Progression ISO RGD:1323068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 1311551 Amfr autocrine motility factor receptor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323068 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311552 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605707 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 1311552 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605707 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311552 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1605707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311552 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1605707 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 1311552 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9256 colorectal cancer ISO RGD:1605707 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311553 Hebp2 heme binding protein 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1323071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1311553 Hebp2 heme binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323071 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311553 Hebp2 heme binding protein 2 gene DOID:630 genetic disease ISO RGD:1323071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311553 Hebp2 heme binding protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1323071 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 1311554 Hist1h2ail1 histone cluster 1 H2a family member I like 1 gene DOID:630 genetic disease ISO RGD:1351707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311555 Usp28 ubiquitin specific peptidase 28 gene DOID:10283 prostate cancer ISO RGD:1323075 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311555 Usp28 ubiquitin specific peptidase 28 gene DOID:1059 intellectual disability ISO RGD:1323075 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311555 Usp28 ubiquitin specific peptidase 28 gene DOID:630 genetic disease ISO RGD:1323075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311555 Usp28 ubiquitin specific peptidase 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323075 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 1311555 Usp28 ubiquitin specific peptidase 28 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323075 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311556 Vps18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:2717 Bloom syndrome ISO RGD:1323077 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311556 Vps18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1323077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311556 Vps18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:9256 colorectal cancer ISO RGD:1323077 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311557 Rnf25 ring finger protein 25 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1323079 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1311557 Rnf25 ring finger protein 25 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1311557 Rnf25 ring finger protein 25 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1311557 Rnf25 ring finger protein 25 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1311557 Rnf25 ring finger protein 25 gene DOID:630 genetic disease ISO RGD:1323079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311557 Rnf25 ring finger protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323079 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311558 Shtn1 shootin 1 gene DOID:630 genetic disease ISO RGD:1347565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311559 Dennd3 DENN domain containing 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1605083 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1311559 Dennd3 DENN domain containing 3 gene DOID:630 genetic disease ISO RGD:1605083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:7240710 20190315 OMIM 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities PMID:25741868|PMID:28492532|PMID:29100083|PMID:31440733|PMID:31780880|PMID:33798445|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323083 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:7240710 20140911 OMIM 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:16199547|PMID:17576681|PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:24664742|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31047384|PMID:31440733|PMID:31456290|PMID:31780880|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498|PMID:9536098 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:10584 retinitis pigmentosa ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29276052|PMID:31456290 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1311560 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1323083 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:29100083|PMID:9536098 1311561 Stxbp5l syntaxin binding protein 5L gene DOID:630 genetic disease ISO RGD:1323085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311561 Stxbp5l syntaxin binding protein 5L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323085 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1311561 Stxbp5l syntaxin binding protein 5L gene DOID:9270 alkaptonuria ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311563 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:7240710 20140911 OMIM 1311563 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x PMID:17576681|PMID:23842455|PMID:25741868|PMID:28492532|PMID:32253875|PMID:9536098 1311563 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:630 genetic disease ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311564 Ypel2 yippee-like 2 gene DOID:0050777 Joubert syndrome ISO RGD:1604154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311565 Haus8 HAUS augmin-like complex, subunit 8 gene DOID:630 genetic disease ISO RGD:1604254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311566 Emc3 ER membrane protein complex subunit 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1311566 Emc3 ER membrane protein complex subunit 3 gene DOID:630 genetic disease ISO RGD:1601753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311566 Emc3 ER membrane protein complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601753 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311566 Emc3 ER membrane protein complex subunit 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1311566 Emc3 ER membrane protein complex subunit 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1601753 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 1311567 Cdc42ep4 CDC42 effector protein 4 gene DOID:630 genetic disease ISO RGD:1323093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1603444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1603444 D RGD:8554872 20171226 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1603444 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISS RGD:1551164 D RGD:13592920 20180518 MouseDO OMIM:227850 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:12849 autistic disorder ISO RGD:1603444 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:5419 schizophrenia ISO RGD:1603444 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1603444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311568 Slx1b SLX1 homolog B, structure-specific endonuclease subunit gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1603444 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1311569 Tlr10 toll-like receptor 10 gene DOID:2841 asthma susceptibility ISO RGD:1323096 D RGD:4889528|PMID:18547625 20101203 RGD DNA:SNP (human) 1311569 Tlr10 toll-like receptor 10 gene DOID:630 genetic disease ISO RGD:1323096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311569 Tlr10 toll-like receptor 10 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0060240 UV-sensitive syndrome ISO RGD:1601889 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:10401106|PMID:16865293 20150925 RGD DNA:mutations:multiple (human) 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:7240710 20170920 OMIM 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0080907 Cockayne syndrome A ISO RGD:1601889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:16199547|PMID:16865293|PMID:16949367|PMID:17576681|PMID:18414213|PMID:18695064|PMID:19309286|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21108394|PMID:21681106|PMID:21924235|PMID:22099533|PMID:22829088|PMID:24033266|PMID:25333069|PMID:25525159|PMID:25741868|PMID:26173784|PMID:26616585|PMID:27004399|PMID:27597947|PMID:28492532|PMID:29057985|PMID:29422660|PMID:29531219|PMID:29572252|PMID:29742419|PMID:30182135|PMID:30200888|PMID:30871974|PMID:31319225|PMID:32048102|PMID:32404165|PMID:32557569|PMID:33199595|PMID:7664335|PMID:9338586|PMID:9536098 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25741868|PMID:27597947|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1553774 D RGD:11567237|PMID:25762674 20170808 RGD associated with Cockayne Syndrome 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:10401108|PMID:21108394 20150925 RGD DNA:nonsense mutation: :p.Y322X (human) 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:11064547|PMID:19894250 20170808 RGD DNA:mutations:multiple (human) 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466610|PMID:22466612 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:7246919|PMID:22824526 20130626 RGD 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:2962 Cockayne syndrome ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19309286|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32404165 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:3652 Leigh disease ISO RGD:1601889 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:5679 retinal disease ISO RGD:1553774 D RGD:10401109|PMID:17145777 20150925 RGD 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1601889 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:630 genetic disease ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11814058|PMID:16865293|PMID:19894250|PMID:25741868|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000316 UV-Sensitive Syndrome 2 ISO RGD:1601889 D RGD:7240710 20140903 OMIM 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000316 UV-Sensitive Syndrome 2 ISO RGD:1601889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 2 PMID:18414213|PMID:19329487|PMID:25741868|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1601889 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601889 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311570 Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene DOID:9006534 Nervous System Malformations ISO RGD:1601889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252 1311573 Mmp28 matrix metallopeptidase 28 gene DOID:630 genetic disease ISO RGD:1323102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311574 Terf1 telomeric repeat binding factor 1 gene DOID:10534 stomach cancer ISO RGD:1323104 D RGD:2317220|PMID:20127252 20100322 RGD protein:increased expression:gastric mucosa (human) 1311574 Terf1 telomeric repeat binding factor 1 gene DOID:1612 breast cancer ISO RGD:1323104 D RGD:2317222|PMID:18720522 20100322 RGD mRNA:decreased expression:breast tumor (human) 1311574 Terf1 telomeric repeat binding factor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323105 D RGD:2317221|PMID:19679647 20100322 RGD 1311574 Terf1 telomeric repeat binding factor 1 gene DOID:630 genetic disease ISO RGD:1323104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311575 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:2303430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1311575 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:630 genetic disease ISO RGD:2303430 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311576 Tigd5 tigger transposable element derived 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1311576 Tigd5 tigger transposable element derived 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1311576 Tigd5 tigger transposable element derived 5 gene DOID:4621 holoprosencephaly ISO RGD:1323107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1311576 Tigd5 tigger transposable element derived 5 gene DOID:630 genetic disease ISO RGD:1323107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311577 Etv3 ETS variant transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348851 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311577 Etv3 ETS variant transcription factor 3 gene DOID:630 genetic disease ISO RGD:1348851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311577 Etv3 ETS variant transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348851 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1311577 Etv3 ETS variant transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348851 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311578 Ndufaf7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:0080690 RASopathy ISO RGD:1602217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1311578 Ndufaf7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:630 genetic disease ISO RGD:1602217 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311580 Afap1l1 actin filament associated protein 1-like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311580 Afap1l1 actin filament associated protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1606158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311580 Afap1l1 actin filament associated protein 1-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606158 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311580 Afap1l1 actin filament associated protein 1-like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311581 Zbtb48 zinc finger and BTB domain containing 48 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1311581 Zbtb48 zinc finger and BTB domain containing 48 gene DOID:630 genetic disease ISO RGD:1346774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311581 Zbtb48 zinc finger and BTB domain containing 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346774 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311582 Ubn1 ubinuclein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1323115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1311582 Ubn1 ubinuclein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1323115 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1311583 Tead3 TEA domain transcription factor 3 gene DOID:0050553 JMP syndrome ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1311583 Tead3 TEA domain transcription factor 3 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:25741868|PMID:26427415|PMID:28492532|PMID:9462750 1311583 Tead3 TEA domain transcription factor 3 gene DOID:630 genetic disease ISO RGD:1323117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311583 Tead3 TEA domain transcription factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26427415|PMID:28492532|PMID:9462750 1311584 Stap1 signal transducing adaptor family member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1603225 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:26036859 1311584 Stap1 signal transducing adaptor family member 1 gene DOID:630 genetic disease ISO RGD:1603225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311584 Stap1 signal transducing adaptor family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603225 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311585 Vrk2 VRK serine/threonine kinase 2 gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 1311585 Vrk2 VRK serine/threonine kinase 2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 1311585 Vrk2 VRK serine/threonine kinase 2 gene DOID:13636 Fanconi anemia ISO RGD:1323120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24389026|PMID:25741868|PMID:26149689|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 1311585 Vrk2 VRK serine/threonine kinase 2 gene DOID:1826 epilepsy ISO RGD:1323120 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311585 Vrk2 VRK serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1323120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311586 Ptpn18 protein tyrosine phosphatase, non-receptor type 18 gene DOID:630 genetic disease ISO RGD:1323122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311586 Ptpn18 protein tyrosine phosphatase, non-receptor type 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311587 Ranbp10 RAN binding protein 10 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1343804 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1311587 Ranbp10 RAN binding protein 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311587 Ranbp10 RAN binding protein 10 gene DOID:630 genetic disease ISO RGD:1343804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311587 Ranbp10 RAN binding protein 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343804 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1311587 Ranbp10 RAN binding protein 10 gene DOID:9000918 Disease Progression ISO RGD:1343804 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1311587 Ranbp10 RAN binding protein 10 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343804 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311588 Riok2 RIO kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311588 Riok2 RIO kinase 2 gene DOID:630 genetic disease ISO RGD:1323125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311588 Riok2 RIO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323125 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311588 Riok2 RIO kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311589 Prr15 proline rich 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603877 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311589 Prr15 proline rich 15 gene DOID:630 genetic disease ISO RGD:1603877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22447358 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:7240710 20130221 OMIM 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32944671|PMID:32973878|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:9063741|PMID:9409865|PMID:9536098 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8696016|PMID:22876109 20140808 RGD DNA:nonsense mutations, frameshift mutation, missense mutation:multiple 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8696018|PMID:16720663 20140808 RGD DNA:frameshift mutations, nonsense mutations, missense mutations:multiple 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1616534 D RGD:8696013|PMID:16513793 20140808 RGD 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1616534 D RGD:8696015|PMID:16000322 20140808 RGD 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome susceptibility ISO RGD:1323128 D RGD:1601169|PMID:11941369 20070410 RGD DNA:frameshift mutations, nonsense mutations 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0050572 cone-rod dystrophy ISO RGD:1323128 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17594715|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28492532|PMID:29588463 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1323128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:0080046 Stickler syndrome ISO RGD:1323128 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:17594715|PMID:28492532|PMID:30311386 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:10579 leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:10584 retinitis pigmentosa ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30718709 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:1059 intellectual disability ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17594715|PMID:25741868|PMID:25846608|PMID:28492532 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:1184 nephrotic syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1323128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22447358 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:14250 Down syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:14791 Leber congenital amaurosis ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26633542|PMID:28492532|PMID:31630094|PMID:31755649|PMID:32531870 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15689433|PMID:17594715|PMID:24400638|PMID:25741868|PMID:28492532 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:543 dystonia ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:630 genetic disease ISO RGD:1323128 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941369|PMID:11941370|PMID:17576681|PMID:17594715|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26111748|PMID:26704672|PMID:28492532|PMID:29302074|PMID:29718281|PMID:30064963|PMID:30488743|PMID:31106028|PMID:9536098 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:783 end stage renal disease ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:8501 fundus dystrophy ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11941369|PMID:11941370|PMID:15689433|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:22555271|PMID:23847139|PMID:24595103|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28041643|PMID:28492532|PMID:30064963|PMID:31810438|PMID:32349990|PMID:32944671 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9000343 Vision Disorders ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9004538 Hearing Loss ISO RGD:1323128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:30311386|PMID:32581362 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9008296 Eye Abnormalities ISO RGD:1323128 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:17594715|PMID:18414213|PMID:22876109|PMID:25741868|PMID:25846608|PMID:26704672|PMID:28112973|PMID:28432734|PMID:28492532|PMID:29718281 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177|PMID:30421101|PMID:32746448|PMID:33669459|PMID:34148947 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1323128 D RGD:8696017|PMID:16601972 20140808 RGD DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) 1311590 Alms1 ALMS1, centrosome and basal body associated protein gene DOID:9970 obesity ISS RGD:1616534 D RGD:13592920 20180518 MouseDO OMIM:601665 1311591 Sh2d4b SH2 domain containing 4B gene DOID:630 genetic disease ISO RGD:1323129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0080000 muscular disease ISO RGD:1314835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:7240710 20180829 OMIM 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1314835 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:12651869|PMID:15145336|PMID:15282317|PMID:19620612|PMID:22326364|PMID:2245297|PMID:25741868|PMID:28492532 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31680123|PMID:32070632|PMID:33502061|PMID:9536098 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266093|PMID:30266223|PMID:31127727|PMID:31680123|PMID:31965297|PMID:32070632|PMID:32528171|PMID:33255631|PMID:33502061|PMID:34106991|PMID:9536098 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:7240710 20190501 OMIM 1311592 Rapsn receptor-associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 PMID:12651869|PMID:14504330|PMID:15036330|PMID:15145336|PMID:15282317|PMID:18179903|PMID:18252226|PMID:19620612|PMID:21520333|PMID:22326364|PMID:2245297|PMID:25741868|PMID:26467025|PMID:28492532 1311592 Rapsn receptor-associated protein of the synapse gene DOID:1059 intellectual disability ISO RGD:1314835 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311592 Rapsn receptor-associated protein of the synapse gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314835 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1311592 Rapsn receptor-associated protein of the synapse gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:31680123|PMID:31965297|PMID:33502061|PMID:9536098 1311592 Rapsn receptor-associated protein of the synapse gene DOID:417 autoimmune disease ISO RGD:1314835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 1311592 Rapsn receptor-associated protein of the synapse gene DOID:423 myopathy ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16931511|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 1311592 Rapsn receptor-associated protein of the synapse gene DOID:630 genetic disease ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 1311592 Rapsn receptor-associated protein of the synapse gene DOID:9008086 Developmental Disabilities ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16931511|PMID:17686188|PMID:25741868|PMID:25741902|PMID:26467025|PMID:28492532 1311592 Rapsn receptor-associated protein of the synapse gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:8549750|PMID:19344765 20180326 RGD protein:decreased expression:neuromuscular junction 1311592 Rapsn receptor-associated protein of the synapse gene DOID:9008386 Hydrops Fetalis ISO RGD:1314835 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:10449659|PMID:25741868|PMID:31680349 1311592 Rapsn receptor-associated protein of the synapse gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:1314835 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1311593 Slain2 SLAIN motif family, member 2 gene DOID:630 genetic disease ISO RGD:1602874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0060903 thrombosis ISO RGD:1323132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1323132 D RGD:10449042|PMID:12040478 20151215 RGD protein:decreased activity:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:2315953|PMID:19652891 20151214 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1323132 D RGD:10449096|PMID:12640381 20151216 RGD protein:decreased activity:serum (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1323132 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:12753286|PMID:17187257|PMID:17627784|PMID:23715102|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28866379|PMID:30046676|PMID:32183147 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323132 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:0081097 Rafiq syndrome ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:10449028|PMID:9129011 20151214 RGD protein:decreased activity:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:10449043|PMID:18031293 20151215 RGD Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12656756 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:1598736|PMID:11586351 20151215 RGD DNA:mutations:multiple (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:7240710 20150826 OMIM 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome PMID:11563771|PMID:11586351|PMID:12181489|PMID:12393505|PMID:12434890|PMID:12576319|PMID:12614216|PMID:12753286|PMID:14512317|PMID:14563640|PMID:14597993|PMID:15009458|PMID:15126318|PMID:15521921|PMID:15800115|PMID:16160007|PMID:16388417|PMID:16453338|PMID:16597588|PMID:16796708|PMID:16807643|PMID:17003922|PMID:17187257|PMID:17576681|PMID:17627784|PMID:17849048|PMID:18031293|PMID:18443791|PMID:18481107|PMID:18581589|PMID:18665921|PMID:19047683|PMID:19055667|PMID:19786614|PMID:19847791|PMID:20647566|PMID:20886194|PMID:21488199|PMID:21676167|PMID:21781265|PMID:22289888|PMID:22529288|PMID:22547583|PMID:22768050|PMID:22783805|PMID:23058857|PMID:23208954|PMID:23346910|PMID:23621748|PMID:23648131|PMID:23715102|PMID:23847193|PMID:24033266|PMID:24433405|PMID:24859360|PMID:24936513|PMID:25442981|PMID:25741868|PMID:25934476|PMID:26081109|PMID:26139087|PMID:26342041|PMID:26352112|PMID:26566785|PMID:27132698|PMID:27427187|PMID:27802307|PMID:28492532|PMID:28678087|PMID:28748566|PMID:28866379|PMID:29554699|PMID:30046676|PMID:30312976|PMID:30792199|PMID:31064749|PMID:31971692|PMID:31980526|PMID:32183147|PMID:32496441|PMID:34355501|PMID:6433703|PMID:7094941|PMID:9536098 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323133 D RGD:10449037|PMID:16200209 20151215 RGD 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1323132 D RGD:10449048|PMID:16189276 20151215 RGD protein:decreased expression, decreased activity:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:13133 HELLP syndrome ISO RGD:1323132 D RGD:10449045|PMID:12969811 20151215 RGD protein:decreased activity:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:13580 cholestasis IEP D RGD:2315953|PMID:19652891 20151214 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1323132 D RGD:10449041|PMID:20062916 20151215 RGD protein:decreased activity:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323132 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:2213 hemorrhagic disease ISO RGD:1323132 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:3652 Leigh disease ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:418 systemic scleroderma ISO RGD:1323132 D RGD:10449040|PMID:12935979 20151215 RGD protein:decreased expression:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:5082 liver cirrhosis severity ISO RGD:1323132 D RGD:1598737|PMID:16689760 20061216 RGD protein:increased expression, increased activity:liver (rat) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:630 genetic disease ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1323132 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1323132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19260037 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14625834|PMID:16388419 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9000528 Coronary Disease ISO RGD:1323132 D RGD:10449044|PMID:12670342 20151215 RGD protein:decreased activity:plasma (human) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9000528 Coronary Disease ISO RGD:1323132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:25741868|PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9001553 Spinal Cord Compression IEP D RGD:10449098|PMID:22425718 20151216 RGD mRNA, protein:increased expression, increased activity:spinal cord (rat) 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired ISO RGD:1323132 D RGD:10449039|PMID:9828246 20151215 RGD 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1323132 D RGD:10449097|PMID:26338302 20151216 RGD human protein in a rat model 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9003871 Venous Thrombosis treatment IDA D RGD:10449099|PMID:21095090 20151216 RGD 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9007096 Stroke ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:27802307|PMID:28492532 1311594 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323132 D RGD:10449040|PMID:12935979 20151215 RGD protein:decreased expression:plasma (human) 1311595 RGD1311595 similar to KIAA2026 protein gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1323134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1311595 RGD1311595 similar to KIAA2026 protein gene DOID:630 genetic disease ISO RGD:1323134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311596 Mybpc2 myosin binding protein C2 gene DOID:630 genetic disease ISO RGD:1323136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311596 Mybpc2 myosin binding protein C2 gene DOID:9006836 Contracture ISO RGD:1323136 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 1311597 Cers5 ceramide synthase 5 gene DOID:630 genetic disease ISO RGD:1323138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:0060041 autism spectrum disorder ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:7240710 20190315 OMIM 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106|PMID:25741868|PMID:27399968|PMID:28492532|PMID:30267900 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:1059 intellectual disability ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:10907 microcephaly ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:10908 hydrocephalus ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:12849 autistic disorder ISO RGD:1323140 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:12858 Huntington's disease ISO RGD:1323140 D RGD:5688338|PMID:10441327 20140917 RGD protein:altered localization:cytoplasm 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:1826 epilepsy ISO RGD:1323140 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:224 transient cerebral ischemia IDA D RGD:9495912|PMID:24063527 20140917 RGD 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:2717 Bloom syndrome ISO RGD:1323140 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:5419 schizophrenia ISO RGD:1323140 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:630 genetic disease ISO RGD:1323140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9002211 Hyperalgesia IEP D RGD:9495916|PMID:17553988 20140917 RGD associated with Arthritis, Experimental;mRNA:decreased expression:spinal cord, neuron 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9002231 Fetal Growth Retardation IDA D RGD:2311214|PMID:18464933 20140917 RGD 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323140 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9007661 Dwarfism ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 1311598 Sin3a SIN3 transcription regulator family member A gene DOID:9256 colorectal cancer ISO RGD:1323140 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311599 Lpcat1 lysophosphatidylcholine acyltransferase 1 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1602676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1311599 Lpcat1 lysophosphatidylcholine acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311599 Lpcat1 lysophosphatidylcholine acyltransferase 1 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1602676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1311600 Zfp474 zinc finger protein 474 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311600 Zfp474 zinc finger protein 474 gene DOID:630 genetic disease ISO RGD:1606968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311600 Zfp474 zinc finger protein 474 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606968 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311600 Zfp474 zinc finger protein 474 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311601 Fastk Fas-activated serine/threonine kinase gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1311601 Fastk Fas-activated serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:1605699 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1311601 Fastk Fas-activated serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1605699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311602 Bpifb6 BPI fold containing family B, member 6 gene DOID:630 genetic disease ISO RGD:1323145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311604 Gpr4 G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1323148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311605 Atraid all-trans retinoic acid-induced differentiation factor gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1323150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1311605 Atraid all-trans retinoic acid-induced differentiation factor gene DOID:630 genetic disease ISO RGD:1323150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311606 Iqcg IQ motif containing G gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 1311606 Iqcg IQ motif containing G gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532 1311606 Iqcg IQ motif containing G gene DOID:630 genetic disease ISO RGD:1345008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311607 Mcrs1 microspherule protein 1 gene DOID:630 genetic disease ISO RGD:1323153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323155 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1323155 D RGD:8554872 20190423 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323155 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:630 genetic disease ISO RGD:1323155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:7240710 20190315 OMIM 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 1311608 Taf6 TATA-box binding protein associated factor 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323155 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 1311609 Hsph1 heat shock protein family H (Hsp110) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1311609 Hsph1 heat shock protein family H (Hsp110) member 1 gene DOID:630 genetic disease ISO RGD:1323157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311610 Cd22 CD22 molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:1323159 D RGD:151665133|PMID:25708834 20220311 RGD 1311610 Cd22 CD22 molecule gene DOID:0110222 Brugada syndrome 5 ISO RGD:1323159 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1311610 Cd22 CD22 molecule gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1323159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1311610 Cd22 CD22 molecule gene DOID:543 dystonia ISO RGD:1323159 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1311610 Cd22 CD22 molecule gene DOID:630 genetic disease ISO RGD:1323159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311611 Gpr25 G protein-coupled receptor 25 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1311611 Gpr25 G protein-coupled receptor 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1323161 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311611 Gpr25 G protein-coupled receptor 25 gene DOID:630 genetic disease ISO RGD:1323161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311611 Gpr25 G protein-coupled receptor 25 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1311611 Gpr25 G protein-coupled receptor 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323161 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311612 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:7240710 20160113 OMIM 1311612 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:16199547|PMID:17576681|PMID:25361775|PMID:25640679|PMID:25741868|PMID:25787132|PMID:28492532|PMID:30139652|PMID:9536098 1311612 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:10907 microcephaly ISO RGD:1606504 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311612 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:2222 factor X deficiency ISO RGD:1606504 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1311612 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1606504 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30139652 1311612 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606504 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1311613 Spop speckle type BTB/POZ protein gene DOID:10283 prostate cancer ISO RGD:1323163 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:23265383|PMID:25741868|PMID:26619011 1311613 Spop speckle type BTB/POZ protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1323163 D RGD:153298922|PMID:25204354 20220729 RGD protein:decreased expression:stomach (human) 1311613 Spop speckle type BTB/POZ protein gene DOID:2526 prostate adenocarcinoma ISO RGD:1323163 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23265383|PMID:26619011 1311613 Spop speckle type BTB/POZ protein gene DOID:363 uterine cancer ISO RGD:1323163 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 1311613 Spop speckle type BTB/POZ protein gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1323163 D RGD:153298923|PMID:28927035 20220729 RGD mRNA, protein:increased expression:lung (human) 1311613 Spop speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ISO RGD:1323163 D RGD:153298927|PMID:31105033 20220729 RGD mRNA, protein:increased expression:lung (human) 1311613 Spop speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1323163 D RGD:153298920|PMID:30607139 20220729 RGD human gene and cell line in mouse model 1311613 Spop speckle type BTB/POZ protein gene DOID:630 genetic disease ISO RGD:1323163 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32109420 1311613 Spop speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:11074965|PMID:26156804 20220729 RGD mRNA:decreased expression:liver (human) 1311613 Spop speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:153298924|PMID:33209975 20220729 RGD human cells in mouse model 1311613 Spop speckle type BTB/POZ protein gene DOID:687 hepatoblastoma ISO RGD:1323163 D RGD:153298925|PMID:24912477 20220729 RGD mRNA:decreased expression:liver (human) 1311613 Spop speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 1311613 Spop speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies PMID:25741868|PMID:32109420 1311613 Spop speckle type BTB/POZ protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323163 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29295717|PMID:29610475 1311613 Spop speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 1311613 Spop speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies PMID:25741868|PMID:32109420 1311613 Spop speckle type BTB/POZ protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 1311613 Spop speckle type BTB/POZ protein gene DOID:9008138 Ductal Carcinoma ISO RGD:1323163 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 1311613 Spop speckle type BTB/POZ protein gene DOID:9256 colorectal cancer ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:colorectum (human) PMID:30171794|REF_RGD_ID:153298926 1311613 Spop speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:11056110|PMID:26022775 20220729 RGD protein:decreased expression:colorectum (human) 1311613 Spop speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:153298921|PMID:28032859 20220729 RGD DNA:hypermethylation:promoter (human) 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0050572 cone-rod dystrophy ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15060128|PMID:19370764|PMID:20301784|PMID:25741868|PMID:28492532 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080488 mucolipidosis ISO RGD:1353704 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:24033266|PMID:25741868 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:7240710 20190315 OMIM 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma PMID:10712439|PMID:15060128|PMID:15532026|PMID:16199547|PMID:17576681|PMID:19370764|PMID:19659762|PMID:20034096|PMID:20147709|PMID:20301784|PMID:20951619|PMID:21792934|PMID:23430803|PMID:24033266|PMID:24123366|PMID:24316125|PMID:24767253|PMID:24807205|PMID:25182519|PMID:25741868|PMID:26130485|PMID:26935170|PMID:27038293|PMID:27243974|PMID:27896079|PMID:28492532|PMID:28950892|PMID:29170090|PMID:29704188|PMID:30235039|PMID:30507725|PMID:30882951|PMID:32651481|PMID:9536098 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1826 epilepsy ISO RGD:1353704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353704 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:3343 glycoproteinosis ISO RGD:1353704 D RGD:1599045|PMID:10712439 20070112 RGD mucolipidosis IIIC 1311614 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:630 genetic disease ISO RGD:1353704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311617 Khdc3 KH domain containing 3, subcortical maternal complex member gene DOID:3659 sialuria ISO RGD:1604735 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1311617 Khdc3 KH domain containing 3, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1604735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311617 Khdc3 KH domain containing 3, subcortical maternal complex member gene DOID:9005147 Hydatidiform Mole ISO RGD:1604735 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1311617 Khdc3 KH domain containing 3, subcortical maternal complex member gene DOID:9005147 Hydatidiform Mole ISO RGD:1604735 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:25741868 1311617 Khdc3 KH domain containing 3, subcortical maternal complex member gene DOID:9006297 Hydatidiform Mole, Recurrent, 2 ISO RGD:1604735 D RGD:7240710 20140911 OMIM 1311617 Khdc3 KH domain containing 3, subcortical maternal complex member gene DOID:9006297 Hydatidiform Mole, Recurrent, 2 ISO RGD:1604735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 PMID:11932746|PMID:19246479|PMID:21623199|PMID:21885028|PMID:23125094|PMID:23232697|PMID:24033266 1311618 Itk IL2-inducible T-cell kinase gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1323169 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Lymphoproliferative disorder 1311618 Itk IL2-inducible T-cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:7240710 20130221 OMIM 1311618 Itk IL2-inducible T-cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:17412921|PMID:17576681|PMID:19425169|PMID:19535334|PMID:19701889|PMID:19717557|PMID:2018|PMID:21109689|PMID:22289921|PMID:25339095|PMID:25741868|PMID:26056787|PMID:27454071|PMID:28492532|PMID:31388699|PMID:32150605|PMID:32628964|PMID:32888943|PMID:8985255|PMID:9536098 1311618 Itk IL2-inducible T-cell kinase gene DOID:12306 vitiligo ISO RGD:1323169 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:28492532|PMID:32628964|PMID:32888943 1311618 Itk IL2-inducible T-cell kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1323169 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22289921|PMID:25741868|PMID:28492532|PMID:9536098 1311618 Itk IL2-inducible T-cell kinase gene DOID:630 genetic disease ISO RGD:1323169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:10608 celiac disease ISO RGD:1323172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:3347 osteosarcoma ISO RGD:1323172 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:630 genetic disease ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522984|PMID:28492532|PMID:30639322 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:7240710 20200115 OMIM 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies PMID:25741868|PMID:28492532|PMID:30639322 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532|PMID:30639322 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 1311620 Zmiz1 zinc finger, MIZ-type containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311622 Bsdc1 BSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1605672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311623 Btbd3 BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605414 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1605414 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1605414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1605414 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:5419 schizophrenia ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:26974950|PMID:28492532|PMID:32346159 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:5419 schizophrenia ISS RGD:1323179 D RGD:13592920 20221117 MouseDO OMIM:181500 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9001194 NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES ISO RGD:1605414 D RGD:7240710 20201216 OMIM 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9001194 NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:32346159|PMID:36672956 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9001558 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ISO RGD:1605414 D RGD:7240710 20200715 OMIM 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9001558 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ISO RGD:1605414 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:28492532|PMID:29463886|PMID:31197650|PMID:31595951 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605414 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311624 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1606790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606790 D RGD:150429611|PMID:24122999 20210908 RGD protein:decreased expression:oral epithelium (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:11038679|PMID:20693430 20160219 RGD DNA:missense mutations, nonsense mutations, splice-site mutation:multiple 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:19483684|PMID:27992414 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:7240710 20141015 OMIM 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1606790 D RGD:10450876|PMID:23099237 20160219 RGD DNA:mutations:multiple 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050912 colon adenoma ISO RGD:1606790 D RGD:150429665|PMID:29875879 20210914 RGD mRNA:decreased expression:colon (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1606790 D RGD:11038679|PMID:20693430 20160219 RGD DNA:missense mutations, nonsense mutations, splice-site mutations:multiple 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:150429612|PMID:27027260 20210908 RGD mRNA, protein:decreased expression:stomach (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:150429653|PMID:31242038 20210912 RGD associated with Neoplasm Metastasis; human cells in mouse model 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer severity ISO RGD:1606790 D RGD:150429653|PMID:31242038 20210912 RGD mRNA:decreased expression:stomach (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer treatment ISO RGD:1606790 D RGD:150429654|PMID:33058920 20210912 RGD human cells in mouse model 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:1612 breast cancer ISO RGD:1606790 D RGD:150429690|PMID:30713804 20210915 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1606790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:2154 nephroblastoma ISO RGD:1606790 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1606790 D RGD:11038680|PMID:19564637 20160219 RGD DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:234 colon adenocarcinoma ISO RGD:1606790 D RGD:150429686|PMID:31057717 20210915 RGD mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:11528815|PMID:26093090 20210913 RGD mRNA:decreased expression:esophagus squamous epithelium (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:150429668|PMID:27050164 20210914 RGD associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1606790 D RGD:150429656|PMID:26873401 20210914 RGD DNA:mutations 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606790 D RGD:150429694|PMID:32554069 20210916 RGD DNA:mutations:multiple 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606790 D RGD:9068941 20220825 RGD mRNA:decreased expression:liver (human) PMID:26366235|REF_RGD_ID:150429684 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606790 D RGD:150429595|PMID:29331390 20210907 RGD human cells in mouse model 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606790 D RGD:150429597|PMID:33097695 20210908 RGD human cells in mouse model 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606790 D RGD:150429689|PMID:30070373 20210915 RGD mRNA:decreased expression:liver (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:150429595|PMID:29331390 20210907 RGD mRNA, protein:increased expression:liver (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:8541 Sezary's disease ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with colorectal cancer; protein:decreased expression:colorectum (human) PMID:33552282|REF_RGD_ID:150429609 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004473 Monocytosis ISO RGD:1323180 D RGD:11038772|PMID:24218139 20160224 RGD 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:7240710 20210113 OMIM 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 75 PMID:20061559|PMID:24315485|PMID:24728327|PMID:25741868|PMID:27834397|PMID:28492532|PMID:30890702|PMID:31827242|PMID:32518946 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1606790 D RGD:11038682|PMID:25200248 20160219 RGD 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606790 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606790 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1606790 D RGD:11038681|PMID:23389918 20160219 RGD DNA:deletions 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606790 D RGD:11038682|PMID:25200248 20160219 RGD 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:150429613|PMID:26816554 20210909 RGD associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:150429655|PMID:30013992 20210913 RGD mRNA, protein:increased expression:colorectum, CD4 positive T cells (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:150429665|PMID:29875879 20210914 RGD mRNA:decreased expression:colon (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:150429690|PMID:30713804 20210915 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1606790 D RGD:150429610|PMID:32774157 20210908 RGD human cells in mouse model 1311625 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9538 multiple myeloma ISO RGD:1606790 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1311626 Ube2k ubiquitin-conjugating enzyme E2K gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1311627 Slc66a1 solute carrier family 66 member 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1311627 Slc66a1 solute carrier family 66 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1311627 Slc66a1 solute carrier family 66 member 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1311627 Slc66a1 solute carrier family 66 member 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1311627 Slc66a1 solute carrier family 66 member 1 gene DOID:630 genetic disease ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311627 Slc66a1 solute carrier family 66 member 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1311628 Prdm8 PR/SET domain 8 gene DOID:0080600 COVID-19 ISO RGD:1323184 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311628 Prdm8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:7240710 20151209 OMIM 1311628 Prdm8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:22961547|PMID:25741868|PMID:28492532 1311628 Prdm8 PR/SET domain 8 gene DOID:630 genetic disease ISO RGD:1323184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311628 Prdm8 PR/SET domain 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323184 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1311628 Prdm8 PR/SET domain 8 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1323184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1311629 Dapk1 death associated protein kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 1311629 Dapk1 death associated protein kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311629 Dapk1 death associated protein kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323186 D RGD:734875|PMID:12124340 20150114 RGD DNA:hypermethylation 1311629 Dapk1 death associated protein kinase 1 gene DOID:1579 respiratory system disease ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 1311629 Dapk1 death associated protein kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1323186 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1311629 Dapk1 death associated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 1311629 Dapk1 death associated protein kinase 1 gene DOID:299 adenocarcinoma ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 1311629 Dapk1 death associated protein kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11313923 1311629 Dapk1 death associated protein kinase 1 gene DOID:4251 conjunctival disease ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 1311629 Dapk1 death associated protein kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 1311629 Dapk1 death associated protein kinase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 1311629 Dapk1 death associated protein kinase 1 gene DOID:630 genetic disease ISO RGD:1323186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311629 Dapk1 death associated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1311629 Dapk1 death associated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 1311629 Dapk1 death associated protein kinase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311629 Dapk1 death associated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 1311629 Dapk1 death associated protein kinase 1 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 1311629 Dapk1 death associated protein kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 1311629 Dapk1 death associated protein kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1323186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISS RGD:1556892 D RGD:13592920 20180518 MouseDO OMIM:612840 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:7240710 20170301 OMIM 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 PMID:24958846|PMID:25741868|PMID:27235135|PMID:28983057|PMID:31064749|PMID:32581362|PMID:34355501 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:1059 intellectual disability ISO RGD:1323188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28983057|PMID:31064749 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:3070 high grade glioma ISO RGD:1323188 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311630 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:630 genetic disease ISO RGD:1323188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311631 Ckap2 cytoskeleton associated protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323189 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1311631 Ckap2 cytoskeleton associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1323189 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311631 Ckap2 cytoskeleton associated protein 2 gene DOID:630 genetic disease ISO RGD:1323189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311632 Cdh26 cadherin 26 gene DOID:630 genetic disease ISO RGD:1323191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311633 Slc7a13 solute carrier family 7 member 13 gene DOID:630 genetic disease ISO RGD:1323193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311634 Anapc15 anaphase promoting complex subunit 15 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1601769 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 1311634 Anapc15 anaphase promoting complex subunit 15 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1601769 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1311634 Anapc15 anaphase promoting complex subunit 15 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1601769 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532 1311634 Anapc15 anaphase promoting complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1601769 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311634 Anapc15 anaphase promoting complex subunit 15 gene DOID:630 genetic disease ISO RGD:1601769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1311634 Anapc15 anaphase promoting complex subunit 15 gene DOID:9004538 Hearing Loss ISO RGD:1601769 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 1311635 Hexim2 HEXIM P-TEFb complex subunit 2 gene DOID:630 genetic disease ISO RGD:1601726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311636 Sf3b3 splicing factor 3b, subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323197 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1311636 Sf3b3 splicing factor 3b, subunit 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311636 Sf3b3 splicing factor 3b, subunit 3 gene DOID:10283 prostate cancer ISO RGD:1323197 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311636 Sf3b3 splicing factor 3b, subunit 3 gene DOID:630 genetic disease ISO RGD:1323197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311637 Kmt5b lysine methyltransferase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1348608 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930 1311637 Kmt5b lysine methyltransferase 5B gene DOID:0080074 neural tube defect ISO RGD:1348608 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868|PMID:29276005 1311637 Kmt5b lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:7240710 20190315 OMIM 1311637 Kmt5b lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 PMID:25363768|PMID:25741868|PMID:28191889|PMID:29276005|PMID:30504930 1311637 Kmt5b lysine methyltransferase 5B gene DOID:1059 intellectual disability ISO RGD:1348608 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311637 Kmt5b lysine methyltransferase 5B gene DOID:5419 schizophrenia ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1311637 Kmt5b lysine methyltransferase 5B gene DOID:630 genetic disease ISO RGD:1348608 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311637 Kmt5b lysine methyltransferase 5B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311637 Kmt5b lysine methyltransferase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348608 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1311637 Kmt5b lysine methyltransferase 5B gene DOID:9005466 Language Development Disorders ISO RGD:1348608 D RGD:8554872 20170502 ClinVar ClinVar Annotator: match by term: Language retardation 1311637 Kmt5b lysine methyltransferase 5B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311637 Kmt5b lysine methyltransferase 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1311638 Cdh16 cadherin 16 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311638 Cdh16 cadherin 16 gene DOID:0110255 cataract 5 multiple types ISO RGD:1323200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1311638 Cdh16 cadherin 16 gene DOID:1781 thyroid gland cancer ISO RGD:1323200 D RGD:13792552|PMID:22028439 20180912 RGD mRNA, protein:decreased expression:Thyroid 1311638 Cdh16 cadherin 16 gene DOID:630 genetic disease ISO RGD:1323200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311639 Cryz crystallin zeta gene DOID:0060041 autism spectrum disorder ISO RGD:1323202 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311639 Cryz crystallin zeta gene DOID:630 genetic disease ISO RGD:1323202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311640 Cep290 centrosomal protein 290 gene DOID:0050545 visceral heterotaxy ISS RGD:1323204 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1311640 Cep290 centrosomal protein 290 gene DOID:0050572 cone-rod dystrophy ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:29641573|PMID:30193310|PMID:30718709|PMID:32865313 1311640 Cep290 centrosomal protein 290 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1604786 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 1311640 Cep290 centrosomal protein 290 gene DOID:0050777 Joubert syndrome ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0050778 Meckel syndrome ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0050952 spastic ataxia ISO RGD:1604786 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16909394|PMID:17345604|PMID:17564974|PMID:20690115|PMID:21602930|PMID:23027964|PMID:25741868|PMID:28492532|PMID:29398085 1311640 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:32865313|PMID:33546218 1311640 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16909394|PMID:17345604|PMID:20690115|PMID:25445212|PMID:25741868|PMID:28492532|PMID:32139166|PMID:32165824 1311640 Cep290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:11070805|PMID:17705300 20161003 RGD DNA:frameshift mutation:exon:c.5489del (human) 1311640 Cep290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:7240710 20130221 OMIM 1311640 Cep290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29053603|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31680349|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18327255|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 1311640 Cep290 centrosomal protein 290 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604786 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 1311640 Cep290 centrosomal protein 290 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25439097|PMID:25741868|PMID:28224992|PMID:28492532|PMID:29482223|PMID:31624253|PMID:33726816|PMID:34795310 1311640 Cep290 centrosomal protein 290 gene DOID:0080322 polycystic kidney disease ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 1311640 Cep290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:7240710 20171011 OMIM 1311640 Cep290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17964524|PMID:18327255|PMID:18414213|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:11064164|PMID:17345604 20161003 RGD DNA:mutations:exon, intron:multiple 1311640 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:11537378|PMID:16909394 20161003 RGD DNA:frameshift mutations, nonsense mutations:cds, intron:multiple 1311640 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:11537381|PMID:18079693 20161003 RGD 1311640 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:7240710 20130221 OMIM 1311640 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33886416|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar cyst PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 1311640 Cep290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27491411|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29186038|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33970760|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:11537352|PMID:17617513 20160930 RGD DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple 1311640 Cep290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:7240710 20130221 OMIM 1311640 Cep290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:7246903|PMID:17409309 20160930 RGD DNA:deletions, insertion: :multiple 1311640 Cep290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27848944|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16909394|PMID:17345604|PMID:20690115|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568 1311640 Cep290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29146704|PMID:31630094|PMID:31734136 1311640 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25377065|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29343940|PMID:29844330|PMID:30718709|PMID:33546218 1311640 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218 1311640 Cep290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 1311640 Cep290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 1311640 Cep290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:10907 microcephaly ISO RGD:1604786 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1311640 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:32037395|PMID:32581362|PMID:32865313|PMID:33105651|PMID:33546218|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:1432 blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blindness PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23188109|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 1311640 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1323204 D RGD:8662304|PMID:24671090 20140618 RGD 1311640 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29844330|PMID:30718709|PMID:31091803|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:34196655|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31884610|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18327255 1311640 Cep290 centrosomal protein 290 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18414213|PMID:25741868|PMID:28492532 1311640 Cep290 centrosomal protein 290 gene DOID:2975 cystic kidney disease ISS RGD:1323204 D RGD:13592920 20180518 MouseDO 1311640 Cep290 centrosomal protein 290 gene DOID:557 kidney disease ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31970223|PMID:32856788|PMID:33502066|PMID:33574314|PMID:33970760 1311640 Cep290 centrosomal protein 290 gene DOID:630 genetic disease ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17617513|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29754767|PMID:29771326|PMID:31734136|PMID:31816670|PMID:32036094|PMID:32865313 1311640 Cep290 centrosomal protein 290 gene DOID:8466 retinal degeneration ISO RGD:1323204 D RGD:8662295|PMID:16632484 20140618 RGD 1311640 Cep290 centrosomal protein 290 gene DOID:8466 retinal degeneration onset ISO RGD:1323204 D RGD:11537380|PMID:26936822 20161003 RGD 1311640 Cep290 centrosomal protein 290 gene DOID:8499 night blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Night blindness PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:25741868|PMID:28492532 1311640 Cep290 centrosomal protein 290 gene DOID:8501 fundus dystrophy ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27491411|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:29178642|PMID:29398085|PMID:29771326|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31734136|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32865313|PMID:33546218|PMID:33576794 1311640 Cep290 centrosomal protein 290 gene DOID:9000378 Congenital Anosmia ISO RGD:1323204 D RGD:8662303|PMID:17898177 20140618 RGD 1311640 Cep290 centrosomal protein 290 gene DOID:9000983 Encephalocele ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17705300|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25525159|PMID:25741868|PMID:26092869|PMID:27894351|PMID:28492532|PMID:28497568|PMID:29398085|PMID:31680349|PMID:31734136 1311640 Cep290 centrosomal protein 290 gene DOID:9006534 Nervous System Malformations ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 1311640 Cep290 centrosomal protein 290 gene DOID:9008086 Developmental Disabilities ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29588463|PMID:31734136 1311640 Cep290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:7240710 20130221 OMIM 1311640 Cep290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33970760|PMID:34196655|PMID:34795310|PMID:9536098 1311640 Cep290 centrosomal protein 290 gene DOID:9650 pathologic nystagmus ISO RGD:1604786 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 1311641 Tbc1d10a TBC1 domain family, member 10a gene DOID:630 genetic disease ISO RGD:1605322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311644 Mogat1 monoacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311644 Mogat1 monoacylglycerol O-acyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323209 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311645 Enpp6 ectonucleotide pyrophosphatase/phosphodiesterase 6 gene DOID:630 genetic disease ISO RGD:1323210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311646 Sart3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:630 genetic disease ISO RGD:1323212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311646 Sart3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1323212 D RGD:8554872 20141111 ClinVar ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:15840095|PMID:17392836 1311648 Ldah lipid droplet associated hydrolase gene DOID:630 genetic disease ISO RGD:1605056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311648 Ldah lipid droplet associated hydrolase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323217 D RGD:41789627|PMID:29746837 20210224 RGD human gene in a mouse model 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323218 D RGD:41789631|PMID:28278235 20210224 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:0081013 severe COVID-19 ISO RGD:1323217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532|PMID:32135276 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:7240710 20160120 OMIM 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:16199547|PMID:17576681|PMID:23391734|PMID:24033266|PMID:25741868|PMID:26122121|PMID:28087227|PMID:28492532|PMID:32092142|PMID:32135276|PMID:33679716|PMID:9536098 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323218 D RGD:124715479|PMID:24760883 20210326 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323218 D RGD:42722006|PMID:32094187 20210301 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:12205 dengue disease susceptibility ISO RGD:1323218 D RGD:41789625|PMID:21075352 20210224 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:12205 dengue disease susceptibility ISO RGD:1323218 D RGD:41789629|PMID:21379341 20210224 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:1227 neutropenia susceptibility ISO RGD:1323217 D RGD:41789633|PMID:19200137 20210224 RGD associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:1883 hepatitis C ISO RGD:1323217 D RGD:11074283|PMID:26216956 20210326 RGD protein:increased expression:liver 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1323217 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:3944 Arenaviridae infectious disease ameliorates ISO RGD:1323218 D RGD:41789630|PMID:15723812 20210224 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:630 genetic disease ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9000371 influenza A exacerbates ISO RGD:1323218 D RGD:41789626|PMID:30337919 20210225 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2303397|PMID:17880360 20090211 RGD mRNA:increased expression:hippocampus 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9004137 Bunyaviridae Infections exacerbates ISO RGD:1323218 D RGD:41789623|PMID:30814285 20210301 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9004379 Vesicular Stomatitis exacerbates ISO RGD:1323218 D RGD:41789624|PMID:32759968 20210224 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1323218 D RGD:41789628|PMID:29743368 20210224 RGD 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:7240710 20200610 OMIM 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 PMID:25741868|PMID:28492532|PMID:31836668|PMID:32092142 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323217 D RGD:41789632|PMID:30842274 20210224 RGD mRNA:decreased expression:monocyte (human) 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9008885 Staphylococcal Infections ameliorates ISO RGD:1323218 D RGD:41789626|PMID:30337919 20210224 RGD associated with influenza A 1311649 Stat2 signal transducer and activator of transcription 2 gene DOID:9682 yellow fever susceptibility ISO RGD:1323218 D RGD:41789622|PMID:31043530 20210224 RGD 1311651 Olfml2a olfactomedin-like 2A gene DOID:0080600 COVID-19 ISO RGD:1323220 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311651 Olfml2a olfactomedin-like 2A gene DOID:630 genetic disease ISO RGD:1323220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311651 Olfml2a olfactomedin-like 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1323220 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311652 Slc5a12 solute carrier family 5 member 12 gene DOID:1059 intellectual disability ISO RGD:1345162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311652 Slc5a12 solute carrier family 5 member 12 gene DOID:630 genetic disease ISO RGD:1345162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311653 Vgll4 vestigial-like family member 4 gene DOID:630 genetic disease ISO RGD:1323223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311653 Vgll4 vestigial-like family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323223 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0050469 Costello syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32313153|PMID:32371413|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0050729 neutral lipid storage disease ISO RGD:1604547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0111162 epidermal nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0111359 large congenital melanocytic nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:7240710 20190315 OMIM 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 PMID:25741868|PMID:28492532|PMID:30388400 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:1059 intellectual disability ISO RGD:1604547 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:11054 urinary bladder cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604547 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:14566 disease of cellular proliferation ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:2394 ovarian cancer ISO RGD:1604547 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:2526 prostate adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:2671 transitional cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3068 glioblastoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3247 rhabdomyosarcoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3275 thymoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3490 Noonan syndrome ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26580448|PMID:26619011|PMID:28492532|PMID:29493581 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:363 uterine cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604547 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:4007 bladder carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:5834 spermatocytoma ISO RGD:1604547 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:630 genetic disease ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:8605880|PMID:9536098 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:6420 pulmonary valve stenosis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:6536 plasma cell neoplasm ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:7608 parathyroid adenoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9003571 Paraproteinemias ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9005120 Pigmented Nevus ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9008939 Breast Neoplasms ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311654 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 1311656 Best1 bestrophin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1323228 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 1311656 Best1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323228 D RGD:11554173 20190305 CTD CTD Direct Evidence: marker/mechanism 1311656 Best1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:7240710 20130221 OMIM 1311656 Best1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:10788642|PMID:10798642|PMID:10854112|PMID:16754206|PMID:17110374|PMID:17287362|PMID:18179881|PMID:18985398|PMID:19372599|PMID:20057343|PMID:20927214|PMID:21077756|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21412020|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23825107|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26310487|PMID:26333019|PMID:26720466|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29215532|PMID:29507198|PMID:29555955|PMID:29668979|PMID:29781975|PMID:30498755|PMID:30578502|PMID:30593719|PMID:30718709|PMID:31570112|PMID:31766397|PMID:31814694|PMID:32141364|PMID:32239196|PMID:33302512|PMID:33546218|PMID:34015078|PMID:34327816|PMID:9700209 1311656 Best1 bestrophin 1 gene DOID:0050817 Stargardt disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10854112|PMID:16754206|PMID:18179881|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:29507198|PMID:30718709|PMID:32207364|PMID:33546218 1311656 Best1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:7240710 20130425 OMIM 1311656 Best1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:19853238|PMID:21330666|PMID:24560797|PMID:25741868|PMID:26418331|PMID:26716959|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30582078|PMID:30718709|PMID:32239196|PMID:9700209 1311656 Best1 bestrophin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311656 Best1 bestrophin 1 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1323228 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 1311656 Best1 bestrophin 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:14615048|PMID:28492532 1311656 Best1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:7240710 20130221 OMIM 1311656 Best1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant PMID:10798642|PMID:10854112|PMID:11585313|PMID:12543751|PMID:13534955|PMID:14615048|PMID:15452077|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18611979|PMID:19853238|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:25999674|PMID:26200502|PMID:26333019|PMID:26771239|PMID:27519691|PMID:27764019|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29555955|PMID:29844330|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 1311656 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8547535|PMID:23701314 20140217 RGD 1311656 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10453731|PMID:10798642|PMID:10854112|PMID:11713080|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:17898294|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 1311656 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29063836|PMID:29068140|PMID:30718709|PMID:33546218|PMID:9536098 1311656 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:9536098 1311656 Best1 bestrophin 1 gene DOID:1059 intellectual disability ISO RGD:1323228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311656 Best1 bestrophin 1 gene DOID:4448 macular degeneration ISO RGD:1323228 D RGD:1599738|PMID:9662395 20070213 RGD Best macular dystrophy, OMIM:153700 1311656 Best1 bestrophin 1 gene DOID:4448 macular degeneration ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10798642|PMID:11241846|PMID:25741868|PMID:27031371|PMID:27193166|PMID:28481155|PMID:28492532|PMID:28559085|PMID:29781975|PMID:30718709|PMID:30880907|PMID:33546218 1311656 Best1 bestrophin 1 gene DOID:630 genetic disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311656 Best1 bestrophin 1 gene DOID:8501 fundus dystrophy ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10331951|PMID:10394929|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11585313|PMID:11756879|PMID:11904445|PMID:12565808|PMID:13129869|PMID:13534955|PMID:14205432|PMID:15452077|PMID:16286623|PMID:16754206|PMID:16769844|PMID:17065513|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18289629|PMID:18844018|PMID:18985398|PMID:19375515|PMID:19597114|PMID:19853238|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:21320969|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21473666|PMID:21809908|PMID:21825197|PMID:21878505|PMID:23213274|PMID:23290749|PMID:23825107|PMID:23880862|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:26771239|PMID:27078032|PMID:27193166|PMID:27519691|PMID:28041643|PMID:28225368|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29115605|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:31519547|PMID:32239196|PMID:33546218|PMID:9536098|PMID:9662395|PMID:9700209 1311656 Best1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:7240710 20180725 OMIM 1311656 Best1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10331951|PMID:10394929|PMID:10453731|PMID:10766140|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11241846|PMID:11713080|PMID:11756879|PMID:11904445|PMID:12939260|PMID:13129869|PMID:14205432|PMID:14517959|PMID:14615048|PMID:16286623|PMID:16754206|PMID:17065513|PMID:17110374|PMID:17576681|PMID:17698758|PMID:17898294|PMID:18179881|PMID:18289629|PMID:18703557|PMID:18985398|PMID:19372599|PMID:19597114|PMID:19853238|PMID:20057903|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21467170|PMID:21473666|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23617333|PMID:23825107|PMID:23880862|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:25878489|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:27031371|PMID:27078032|PMID:27193166|PMID:27519691|PMID:27764019|PMID:28225368|PMID:28481155|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:28791410|PMID:29063836|PMID:29068140|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:30880907|PMID:31456290|PMID:31519547|PMID:31570112|PMID:31814694|PMID:32207364|PMID:33039401|PMID:33546218|PMID:838599|PMID:9536098|PMID:9662395|PMID:9700209 1311656 Best1 bestrophin 1 gene DOID:9005725 Iron Overload ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 1311657 Sap130 Sin3A associated protein 130 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1606502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1311657 Sap130 Sin3A associated protein 130 gene DOID:1682 congenital heart disease ISS RGD:1332063 D RGD:13592920 20180518 MouseDO 1311657 Sap130 Sin3A associated protein 130 gene DOID:630 genetic disease ISO RGD:1606502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311657 Sap130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606502 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 1311658 Pdcd1 programmed cell death 1 gene DOID:0040083 Chlamydia pneumonia ISO RGD:1323232 D RGD:41412180|PMID:26378990 20210219 RGD mRNA:increased expression:lung 1311658 Pdcd1 programmed cell death 1 gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1323232 D RGD:40818422|PMID:25624454 20201120 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:0060081 triple-receptor negative breast cancer treatment ISO RGD:1323232 D RGD:40818259|PMID:32194569 20201116 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323231 D RGD:41412178|PMID:29058791 20210219 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323232 D RGD:41412178|PMID:29058791 20210219 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:7248675|PMID:15934088 20130815 RGD DNA:polymorphism: : 1311658 Pdcd1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:7248676|PMID:15352422 20130815 RGD DNA:polymorphism:intron:6867 C>T (human) 1311658 Pdcd1 programmed cell death 1 gene DOID:0080162 lupus nephritis onset ISO RGD:1323232 D RGD:7248678|PMID:21041733 20130815 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1311658 Pdcd1 programmed cell death 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1311658 Pdcd1 programmed cell death 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1311658 Pdcd1 programmed cell death 1 gene DOID:10534 stomach cancer ISO RGD:1323231 D RGD:41410790|PMID:27465786 20210212 RGD associated with Epstein-Barr Virus Infections 1311658 Pdcd1 programmed cell death 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1323231 D RGD:40818238|PMID:32380498 20201113 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:1059 intellectual disability ISO RGD:1323231 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311658 Pdcd1 programmed cell death 1 gene DOID:10591 pre-eclampsia ISO RGD:1323231 D RGD:40886269|PMID:27277012 20201203 RGD protein:increased expression:Treg cell 1311658 Pdcd1 programmed cell death 1 gene DOID:10591 pre-eclampsia treatment IEP D RGD:40886269|PMID:27277012 20201203 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:11111 hydronephrosis ISO RGD:1323232 D RGD:7248681|PMID:16352741 20130815 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:11168 anogenital venereal wart ISO RGD:1323231 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 1311658 Pdcd1 programmed cell death 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323232 D RGD:41410802|PMID:23230000 20210215 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:12155 lymphocytic choriomeningitis treatment ISO RGD:1323232 D RGD:40818232|PMID:30726291 20201112 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:12361 Graves' disease ISO RGD:1323231 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 1311658 Pdcd1 programmed cell death 1 gene DOID:12549 hepatitis A disease_progression ISO RGD:1323231 D RGD:40818419|PMID:26347518 20201120 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323231 D RGD:11056952|PMID:25465101 20201112 RGD protein:increased expression: CD8 Tcell from nasal wash: 1311658 Pdcd1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323232 D RGD:11056952|PMID:25465101 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell from lung: 1311658 Pdcd1 programmed cell death 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9589058|PMID:14595408 20141105 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1323232 D RGD:13592920 20180518 MouseDO 1311658 Pdcd1 programmed cell death 1 gene DOID:14115 toxic shock syndrome ISO RGD:1323231 D RGD:40822808|PMID:29702526 20201130 RGD protein:increased expression:serum 1311658 Pdcd1 programmed cell death 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1323231 D RGD:41410786|PMID:26063974 20210212 RGD protein:increased expression:lymphocyte, mononcyte 1311658 Pdcd1 programmed cell death 1 gene DOID:1679 cystitis ISO RGD:1323232 D RGD:7248677|PMID:22432050 20130815 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:1731 histoplasmosis treatment ISO RGD:1323232 D RGD:40822806|PMID:18268348 20201130 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1323231 D RGD:11052797|PMID:25747035 20201112 RGD DNA:SNP:3' UTR:rs10204525(human) 1311658 Pdcd1 programmed cell death 1 gene DOID:1909 melanoma ISO RGD:1323231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21802280 1311658 Pdcd1 programmed cell death 1 gene DOID:1909 melanoma treatment ISO RGD:1323232 D RGD:40818261|PMID:27760326 20201116 RGD associated with influenza 1311658 Pdcd1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:40818272|PMID:31770816 20201117 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:40818414|PMID:28667037 20201120 RGD DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human) 1311658 Pdcd1 programmed cell death 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1323231 D RGD:40818423|PMID:29786123 20201123 RGD DNA:SNP: :rs2227981(human) 1311658 Pdcd1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323231 D RGD:40818236|PMID:23869988 20201113 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323232 D RGD:41412171|PMID:19781375 20210219 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:2237 hepatitis ISO RGD:1323231 D RGD:40818425|PMID:19739236 20201123 RGD protein:increased expression: leukocyte 1311658 Pdcd1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:7240710 20230510 OMIM 1311658 Pdcd1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:12402038|PMID:15912506 1311658 Pdcd1 programmed cell death 1 gene DOID:2841 asthma treatment ISO RGD:1323232 D RGD:41412180|PMID:26378990 20210219 RGD associated with Chlamydia pneumonia 1311658 Pdcd1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1323231 D RGD:40818418|PMID:23661793 20201120 RGD protein:increased expression:Tcell, B cell, monocyte 1311658 Pdcd1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1323231 D RGD:40818418|PMID:23661793 20201120 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:3951 acute myocarditis severity ISO RGD:1323232 D RGD:40822819|PMID:17434153 20201201 RGD associated with Coxsackievirus Infections; 1311658 Pdcd1 programmed cell death 1 gene DOID:3951 acute myocarditis treatment ISO RGD:1323232 D RGD:40822819|PMID:17434153 20201201 RGD associated with Coxsackievirus Infections; 1311658 Pdcd1 programmed cell death 1 gene DOID:399 tuberculosis treatment ISO RGD:1323231 D RGD:41412174|PMID:27865385 20210219 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1323231 D RGD:7248680|PMID:17363529 20130815 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment IEP D RGD:7248671|PMID:21965585 20141105 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323231 D RGD:41412179|PMID:30161254 20210219 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:630 genetic disease ISO RGD:1323231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311658 Pdcd1 programmed cell death 1 gene DOID:646 viral encephalitis ISO RGD:1323232 D RGD:40818239|PMID:31105690 20201113 RGD protein:increased expression: CD8 T celll 1311658 Pdcd1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:40818257|PMID:27034168 20201116 RGD associated with hepatitis B;DNA:SNP: : +8669 A>G (human) 1311658 Pdcd1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:41410800|PMID:21912640 20210215 RGD associated with hepatitis B 1311658 Pdcd1 programmed cell death 1 gene DOID:820 myocarditis ISO RGD:1323232 D RGD:9589065|PMID:21357717 20141106 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:824 periodontitis IEP D RGD:40886271|PMID:32346701 20201203 RGD protein:increased expression:periodontium 1311658 Pdcd1 programmed cell death 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1323231 D RGD:40822817|PMID:23521696 20201201 RGD associated with Papillomavirus Infections; protein:increased expression:T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:40886268|PMID:29665726 20201203 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9001228 Fungemia ISO RGD:1323232 D RGD:40818234|PMID:23663657 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell: 1311658 Pdcd1 programmed cell death 1 gene DOID:9001228 Fungemia treatment ISO RGD:1323232 D RGD:40818234|PMID:23663657 20201112 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1311658 Pdcd1 programmed cell death 1 gene DOID:9001953 Pneumovirus Infections treatment ISO RGD:1323232 D RGD:40822811|PMID:25339663 20201130 RGD associated with reinfection 1311658 Pdcd1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323231 D RGD:40818413|PMID:27792733 20201120 RGD protein:increased expression:CD4 T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323232 D RGD:40818413|PMID:27792733 20201120 RGD protein:increased expression:CD4 T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1323232 D RGD:40818413|PMID:27792733 20201120 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1323232 D RGD:40818258|PMID:24648472 20201116 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1323231 D RGD:40822813|PMID:22322668 20201130 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1323232 D RGD:9589070|PMID:19208793 20141106 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1323232 D RGD:9589070|PMID:19208793 20141106 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9004283 Transplant Rejection ISO RGD:1323232 D RGD:9589060|PMID:17489865 20141105 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9004283 Transplant Rejection ISO RGD:1323232 D RGD:9589063|PMID:17198268 20141105 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9004283 Transplant Rejection severity ISO RGD:1323231 D RGD:7248673|PMID:21518556 20130814 RGD mRNA:increased expression:leukocytes, Mononuclear: 1311658 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:40818235|PMID:30595665 20201112 RGD protein:increased expression:T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:40818424|PMID:29661225 20201123 RGD protein:increased expression:B cell,CD4T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:40822808|PMID:29702526 20201130 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:41412183|PMID:27156867 20210219 RGD protein:increased expression:T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323232 D RGD:40818273|PMID:19332785 20201117 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323231 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 1311658 Pdcd1 programmed cell death 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:1323231 D RGD:40818426|PMID:19581275 20201123 RGD associated with kidney transplantation; DNA:SNP: :rs11568821(human) 1311658 Pdcd1 programmed cell death 1 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1323232 D RGD:41412175|PMID:25907244 20210219 RGD mRNA, protein:increased expression:liver 1311658 Pdcd1 programmed cell death 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1323232 D RGD:40818270|PMID:22797302 20201117 RGD protein:increased expression:CD8 T cell 1311658 Pdcd1 programmed cell death 1 gene DOID:9007730 Burns treatment ISO RGD:1323232 D RGD:41410788|PMID:29345058 20210212 RGD associated with Pseudomonas Infections; associated with Staphylococcal Infections 1311658 Pdcd1 programmed cell death 1 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1323231 D RGD:40818417|PMID:21562113 20201120 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:40818262|PMID:20700634 20201116 RGD DNA:SNP:exon: 1311658 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:40818415|PMID:28983583 20201120 RGD protein:altered expression:serum: 1311658 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323231 D RGD:40818231|PMID:30016557 20201112 RGD DNA:SNP:3' UTR:rs10204525(human) 1311658 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1323231 D RGD:40818233|PMID:25736598 20201112 RGD DNA:SNPs::+7146 G>A,+7209 C>T(human) 1311658 Pdcd1 programmed cell death 1 gene DOID:9008443 Colorectal Neoplasms IEP D RGD:9589083|PMID:24165459 20141106 RGD protein:increased expression:colonic mucosa, lymphocyte 1311658 Pdcd1 programmed cell death 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323231 D RGD:7240710 20230510 OMIM 1311658 Pdcd1 programmed cell death 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323231 D RGD:7248674|PMID:17228327 20130814 RGD DNA:polymorphism: : 7,146 G>A (human) 1311658 Pdcd1 programmed cell death 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323231 D RGD:7248679|PMID:19116915 20130815 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1323232 D RGD:41410789|PMID:26712908 20210212 RGD 1311658 Pdcd1 programmed cell death 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323232 D RGD:7248672|PMID:23219834 20130814 RGD protein:increased expression:kidney 1311659 Psma8 proteasome 20S subunit alpha 8 gene DOID:1059 intellectual disability ISO RGD:1349882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311659 Psma8 proteasome 20S subunit alpha 8 gene DOID:630 genetic disease ISO RGD:1349882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311660 Get4 guided entry of tail-anchored proteins factor 4 gene DOID:630 genetic disease ISO RGD:1323234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311660 Get4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:7240710 20230125 OMIM 1311660 Get4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG IIy PMID:25741868|PMID:32395830 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:0050952 spastic ataxia ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:7240710 20130425 OMIM 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 PMID:18037885|PMID:19533200|PMID:20301723|PMID:22073189|PMID:24808823|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27744525|PMID:28492532 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1347811 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1347811 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:630 genetic disease ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18037885 1311661 Ttbk2 tau tubulin kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347811 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311662 Fam3b FAM3 metabolism regulating signaling molecule B gene DOID:12849 autistic disorder ISO RGD:1323237 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311662 Fam3b FAM3 metabolism regulating signaling molecule B gene DOID:630 genetic disease ISO RGD:1323237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311662 Fam3b FAM3 metabolism regulating signaling molecule B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323237 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311663 Zfp418 zinc finger protein 418 gene DOID:630 genetic disease ISO RGD:1346172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311665 Ankrd50 ankyrin repeat domain containing 50 gene DOID:630 genetic disease ISO RGD:1603620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311665 Ankrd50 ankyrin repeat domain containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603620 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311666 Tlnrd1 talin rod domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1323243 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311666 Tlnrd1 talin rod domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1323243 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1311666 Tlnrd1 talin rod domain containing 1 gene DOID:630 genetic disease ISO RGD:1323243 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311666 Tlnrd1 talin rod domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1323243 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311667 Nkapl NFKB activating protein-like gene DOID:11372 megacolon ISO RGD:1323244 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1311667 Nkapl NFKB activating protein-like gene DOID:5419 schizophrenia ISO RGD:1323244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 1311667 Nkapl NFKB activating protein-like gene DOID:630 genetic disease ISO RGD:1323244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311668 F13b coagulation factor XIII B chain gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1323246 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 1311668 F13b coagulation factor XIII B chain gene DOID:1540 parathyroid carcinoma ISO RGD:1323246 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311668 F13b coagulation factor XIII B chain gene DOID:2211 factor XIII deficiency ISO RGD:1323246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2334637 1311668 F13b coagulation factor XIII B chain gene DOID:2211 factor XIII deficiency ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:22353194|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28748566 1311668 F13b coagulation factor XIII B chain gene DOID:630 genetic disease ISO RGD:1323246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311668 F13b coagulation factor XIII B chain gene DOID:869 cholesteatoma ISO RGD:1323246 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 1311668 F13b coagulation factor XIII B chain gene DOID:9003871 Venous Thrombosis ISO RGD:1323246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16241947 1311668 F13b coagulation factor XIII B chain gene DOID:9003871 Venous Thrombosis ISO RGD:1323246 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:12456499|PMID:16241947|PMID:25741868 1311668 F13b coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:10450738|PMID:20331752 20160120 RGD DNA:mutations:multiple: 1311668 F13b coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:7240710 20131030 OMIM 1311668 F13b coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of PMID:11313256|PMID:12456499|PMID:14695539|PMID:16241947|PMID:20331752|PMID:22353194|PMID:2334637|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28492532|PMID:28748566|PMID:31064749|PMID:34355501|PMID:8324218|PMID:8639893 1311668 F13b coagulation factor XIII B chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323246 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311669 Thoc3 THO complex subunit 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1311669 Thoc3 THO complex subunit 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1311669 Thoc3 THO complex subunit 3 gene DOID:630 genetic disease ISO RGD:1323248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311670 Vwa3a von Willebrand factor A domain containing 3A gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1641961 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 1311670 Vwa3a von Willebrand factor A domain containing 3A gene DOID:11054 urinary bladder cancer ISO RGD:1641961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1311670 Vwa3a von Willebrand factor A domain containing 3A gene DOID:12849 autistic disorder ISO RGD:1641961 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311670 Vwa3a von Willebrand factor A domain containing 3A gene DOID:5419 schizophrenia ISO RGD:1641961 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311670 Vwa3a von Willebrand factor A domain containing 3A gene DOID:630 genetic disease ISO RGD:1641961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311671 Tcf7l1 transcription factor 7 like 1 gene DOID:630 genetic disease ISO RGD:1323251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311671 Tcf7l1 transcription factor 7 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 1311672 Cnot2 CCR4-NOT transcription complex, subunit 2 gene DOID:630 genetic disease ISO RGD:1323253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311672 Cnot2 CCR4-NOT transcription complex, subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:7240710 20191113 OMIM 1311672 Cnot2 CCR4-NOT transcription complex, subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies PMID:25741868|PMID:31145527|PMID:31512373 1311672 Cnot2 CCR4-NOT transcription complex, subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323253 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311673 Fndc3b fibronectin type III domain containing 3B gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343110 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28314734 1311673 Fndc3b fibronectin type III domain containing 3B gene DOID:10126 keratoconus ISO RGD:1343110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 1311673 Fndc3b fibronectin type III domain containing 3B gene DOID:1062 Fanconi syndrome ISO RGD:1343110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1311673 Fndc3b fibronectin type III domain containing 3B gene DOID:1067 open-angle glaucoma ISO RGD:1343110 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 1311673 Fndc3b fibronectin type III domain containing 3B gene DOID:630 genetic disease ISO RGD:1343110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311673 Fndc3b fibronectin type III domain containing 3B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343110 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 1311675 G0s2 G0/G1switch 2 gene DOID:0080600 COVID-19 ISO RGD:1604363 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311675 G0s2 G0/G1switch 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604363 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311675 G0s2 G0/G1switch 2 gene DOID:305 carcinoma ISO RGD:1604363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311675 G0s2 G0/G1switch 2 gene DOID:630 genetic disease ISO RGD:1604363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311675 G0s2 G0/G1switch 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311675 G0s2 G0/G1switch 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311675 G0s2 G0/G1switch 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311675 G0s2 G0/G1switch 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604363 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:0080422 Dravet syndrome ISO RGD:1323259 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323259 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:7240710 20180207 OMIM 1311677 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 1311677 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 1311677 Rfx5 regulatory factor X5 gene DOID:627 severe combined immunodeficiency ISO RGD:1323259 D RGD:1599742|PMID:9401005 20070213 RGD 1311677 Rfx5 regulatory factor X5 gene DOID:627 severe combined immunodeficiency ISO RGD:1323259 D RGD:1599743|PMID:7744245 20070213 RGD 1311677 Rfx5 regulatory factor X5 gene DOID:630 genetic disease ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311677 Rfx5 regulatory factor X5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323259 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311678 Cnbd2 cyclic nucleotide binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1323261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311679 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1311679 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1311679 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1311679 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1354453 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 1311679 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1311679 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:630 genetic disease ISO RGD:1354453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311680 Atp6v1e2 ATPase H+ transporting V1 subunit E2 gene DOID:3883 Lynch syndrome ISO RGD:1323263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1311680 Atp6v1e2 ATPase H+ transporting V1 subunit E2 gene DOID:630 genetic disease ISO RGD:1323263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311681 Tifab TIFA inhibitor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311681 Tifab TIFA inhibitor gene DOID:630 genetic disease ISO RGD:2291818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311681 Tifab TIFA inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291818 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311681 Tifab TIFA inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311683 Rhobtb3 Rho-related BTB domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311683 Rhobtb3 Rho-related BTB domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1323267 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311683 Rhobtb3 Rho-related BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311683 Rhobtb3 Rho-related BTB domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323267 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311683 Rhobtb3 Rho-related BTB domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323269 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:630 genetic disease ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:8445 intestinal volvulus ISO RGD:1323269 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:7240710 20130221 OMIM 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital PMID:22152683|PMID:24487590|PMID:25741868 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323269 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323269 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1311684 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323269 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1311685 Nid2 nidogen 2 gene DOID:630 genetic disease ISO RGD:1323271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311685 Nid2 nidogen 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311686 Bpifc BPI fold containing family C gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 1311686 Bpifc BPI fold containing family C gene DOID:630 genetic disease ISO RGD:1323273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311686 Bpifc BPI fold containing family C gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1323273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 1311687 Rptn repetin gene DOID:0111940 immunodeficiency 42 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311687 Rptn repetin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311687 Rptn repetin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311687 Rptn repetin gene DOID:1540 parathyroid carcinoma ISO RGD:1605586 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311687 Rptn repetin gene DOID:5812 MHC class II deficiency ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311687 Rptn repetin gene DOID:630 genetic disease ISO RGD:1605586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311687 Rptn repetin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605586 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311688 Bcar3 BCAR3 adaptor protein, NSP family member gene DOID:303 substance-related disorder ISO RGD:36174057 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1311688 Bcar3 BCAR3 adaptor protein, NSP family member gene DOID:630 genetic disease ISO RGD:36174057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311688 Bcar3 BCAR3 adaptor protein, NSP family member gene DOID:9008939 Breast Neoplasms ISO RGD:36174057 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 1311689 Ubac2 UBA domain containing 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1311689 Ubac2 UBA domain containing 2 gene DOID:14701 propionic acidemia ISO RGD:1323278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1311689 Ubac2 UBA domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1311689 Ubac2 UBA domain containing 2 gene DOID:630 genetic disease ISO RGD:1323278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311689 Ubac2 UBA domain containing 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323278 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1311690 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311690 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:7240710 20190327 OMIM 1311690 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 1311690 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1311690 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:1599837|PMID:14660746 20070216 RGD 1311690 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:630 genetic disease ISO RGD:1323279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1323281 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Popliteal pterygium syndrome 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:0060055 popliteal pterygium syndrome ISS RGD:1323282 D RGD:13592920 20180518 MouseDO OMIM:119500 | OMIM:263650 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:7240710 20141015 OMIM 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 PMID:10925380|PMID:15264293|PMID:22197488|PMID:22197489|PMID:23074676|PMID:23610050|PMID:25326635|PMID:25741868|PMID:26752647|PMID:28492532|PMID:28940926 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323281 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:7240710 20221207 OMIM 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome PMID:23610050|PMID:25326635|PMID:25741868|PMID:26129644|PMID:28492532|PMID:28940926 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9263 homocystinuria ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1311691 Ripk4 receptor-interacting serine-threonine kinase 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311692 Marchf10 membrane associated ring-CH-type finger 10 gene DOID:630 genetic disease ISO RGD:1601818 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311693 Plscr4 phospholipid scramblase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1323284 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1311693 Plscr4 phospholipid scramblase 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1323284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1311693 Plscr4 phospholipid scramblase 4 gene DOID:630 genetic disease ISO RGD:1323284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1601873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:0080006 bone development disease ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:1561 cognitive disorder ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:1682 congenital heart disease ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:630 genetic disease ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:850 lung disease ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:1601873 D RGD:155631266|PMID:33417923 20221028 RGD 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9001487 Facies ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601873 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:155631268|PMID:31466050 20221028 RGD 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9006257 Growth Disorders ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:7240710 20170301 OMIM 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441|PMID:34782754|PMID:9536098 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9007653 Multiple Abnormalities ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1601873 D RGD:155631267|PMID:35223479 20221028 RGD 1311694 Aff4 ALF transcription elongation factor 4 gene DOID:9970 obesity ISO RGD:1601873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1606290 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1606290 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1606290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:7240710 20190320 OMIM 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:12075011|PMID:20598274|PMID:22504945|PMID:23918765|PMID:24088041|PMID:24344687|PMID:24430573|PMID:25638461|PMID:25741868|PMID:26633545|PMID:26944241|PMID:28492532|PMID:30026338|PMID:33144682 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0111438 optic atrophy 5 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:25741868 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:630 genetic disease ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311696 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1606290 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28812649 1311697 Ibtk inhibitor of Bruton tyrosine kinase gene DOID:10283 prostate cancer ISO RGD:1323289 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311697 Ibtk inhibitor of Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311698 Hhipl1 HHIP-like 1 gene DOID:10283 prostate cancer ISO RGD:1349549 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311698 Hhipl1 HHIP-like 1 gene DOID:3393 coronary artery disease ISO RGD:1349549 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 1311698 Hhipl1 HHIP-like 1 gene DOID:630 genetic disease ISO RGD:1349549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311699 Dpf2 double PHD fingers 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311699 Dpf2 double PHD fingers 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1323292 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868|PMID:29429572 1311699 Dpf2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:7240710 20190315 OMIM 1311699 Dpf2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 7 PMID:25741868|PMID:28492532|PMID:29429572|PMID:29429672|PMID:31207137 1311699 Dpf2 double PHD fingers 2 gene DOID:1059 intellectual disability ISO RGD:1323292 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311699 Dpf2 double PHD fingers 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311699 Dpf2 double PHD fingers 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311699 Dpf2 double PHD fingers 2 gene DOID:3070 high grade glioma ISO RGD:1323292 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1311699 Dpf2 double PHD fingers 2 gene DOID:630 genetic disease ISO RGD:1323292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28533407|PMID:29429572 1311699 Dpf2 double PHD fingers 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311699 Dpf2 double PHD fingers 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311699 Dpf2 double PHD fingers 2 gene DOID:9008582 Developmental Disease ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311700 Ccdc85a coiled-coil domain containing 85A gene DOID:630 genetic disease ISO RGD:1605892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311701 Smtnl1 smoothelin-like 1 gene DOID:1059 intellectual disability ISO RGD:1601815 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311701 Smtnl1 smoothelin-like 1 gene DOID:630 genetic disease ISO RGD:1601815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:29663568|PMID:32371413|PMID:33811063 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 PMID:24033266|PMID:25741868|PMID:26872069|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:12712 nephronophthisis ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:13580 cholestasis ISO RGD:1323296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:630 genetic disease ISO RGD:1323296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27653677|PMID:28492532|PMID:30287594|PMID:33853163 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1323296 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323296 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1311702 Uba5 ubiquitin-like modifier activating enzyme 5 gene DOID:9270 alkaptonuria ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311703 C1h11orf58 similar to human chromosome 11 open reading frame 58 gene DOID:1059 intellectual disability ISO RGD:1605695 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311704 Lcor ligand dependent nuclear receptor corepressor gene DOID:10283 prostate cancer ISO RGD:1603601 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1311704 Lcor ligand dependent nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1603601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:22265013|PMID:24677762|PMID:25741868|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1323300 D RGD:7240710 20140911 OMIM 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:16199547|PMID:17576681|PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:9536098 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323300 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:630 genetic disease ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:9005077 Joint Instability ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 1311705 Fkbp14 FKBP prolyl isomerase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1323300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 1311706 Hdac11 histone deacetylase 11 gene DOID:0060417 3p deletion syndrome ISO RGD:1323302 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1311706 Hdac11 histone deacetylase 11 gene DOID:630 genetic disease ISO RGD:1323302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:1323304 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1323304 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9521327 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1323304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1323304 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:7240710 20230104 OMIM 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive PMID:35044816 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323304 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:7240710 20200226 OMIM 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:8554872 20201124 ClinVar ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic PMID:9521327 1311707 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323304 D RGD:1600539|PMID:9521327 20070313 RGD DNA:splice-site mutation, missense mutation 1311708 Olfm4 olfactomedin 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323306 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1311708 Olfm4 olfactomedin 4 gene DOID:1059 intellectual disability ISO RGD:1323306 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311708 Olfm4 olfactomedin 4 gene DOID:289 endometriosis ISO RGD:1323306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21048224 1311708 Olfm4 olfactomedin 4 gene DOID:630 genetic disease ISO RGD:1323306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311709 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1311709 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323307 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1311709 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1311709 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1311709 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1323307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311709 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1311710 Paqr8 progestin and adipoQ receptor family member 8 gene DOID:630 genetic disease ISO RGD:1323309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311711 Itga11 integrin subunit alpha 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1311711 Itga11 integrin subunit alpha 11 gene DOID:1793 pancreatic cancer ISO RGD:1323311 D RGD:5490966|PMID:18772397 20140724 RGD DNA:mutations:exon 1311711 Itga11 integrin subunit alpha 11 gene DOID:2717 Bloom syndrome ISO RGD:1323311 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311711 Itga11 integrin subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1323311 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311711 Itga11 integrin subunit alpha 11 gene DOID:9256 colorectal cancer ISO RGD:1323311 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311712 Nab2 Ngfi-A binding protein 2 gene DOID:630 genetic disease ISO RGD:1323313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311712 Nab2 Ngfi-A binding protein 2 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1323313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 1311713 Spred3 sprouty-related, EVH1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311714 Mill1 MHC I like leukocyte 1 gene DOID:0050553 JMP syndrome ISO RGD:1345713 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1311714 Mill1 MHC I like leukocyte 1 gene DOID:11372 megacolon ISO RGD:1345713 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1311714 Mill1 MHC I like leukocyte 1 gene DOID:3362 coronary aneurysm ISO RGD:1345713 D RGD:11554173 20230322 CTD CTD Direct Evidence: marker/mechanism PMID:10899738 1311714 Mill1 MHC I like leukocyte 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1345713 D RGD:11554173 20230322 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 1311714 Mill1 MHC I like leukocyte 1 gene DOID:630 genetic disease ISO RGD:1345713 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311714 Mill1 MHC I like leukocyte 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345713 D RGD:11554173 20230322 CTD CTD Direct Evidence: marker/mechanism PMID:21499248 1311716 Lrrc2 leucine rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1323318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311716 Lrrc2 leucine rich repeat containing 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311717 Ubap2 ubiquitin-associated protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1311717 Ubap2 ubiquitin-associated protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1311717 Ubap2 ubiquitin-associated protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1311717 Ubap2 ubiquitin-associated protein 2 gene DOID:630 genetic disease ISO RGD:1323319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311717 Ubap2 ubiquitin-associated protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311717 Ubap2 ubiquitin-associated protein 2 gene DOID:9870 galactosemia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:7240710 20180405 OMIM 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome PMID:12740761|PMID:24697860|PMID:2484451|PMID:25741868|PMID:28492532|PMID:29307792 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:1599075|PMID:12740761 20070116 RGD DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human) 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:7240710 20130221 OMIM 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome PMID:11701398|PMID:12740761|PMID:24697860|PMID:26148450 1311718 Sox18 SRY-box transcription factor 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311718 Sox18 SRY-box transcription factor 18 gene DOID:37 skin disease ISO RGD:1323321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311718 Sox18 SRY-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1323321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311718 Sox18 SRY-box transcription factor 18 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311719 Zfp532 zinc finger protein 532 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1323323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1311719 Zfp532 zinc finger protein 532 gene DOID:0111988 immunodeficiency 12 ISO RGD:1323323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1311719 Zfp532 zinc finger protein 532 gene DOID:12849 autistic disorder ISO RGD:1323323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1311719 Zfp532 zinc finger protein 532 gene DOID:630 genetic disease ISO RGD:1323323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311719 Zfp532 zinc finger protein 532 gene DOID:9775 diastolic heart failure ISO RGD:1551867 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1311720 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:1323325 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1311720 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:1826 epilepsy ISO RGD:1323325 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 1311720 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1323325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311720 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323325 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311720 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:7240710 20170301 OMIM 1311720 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 PMID:25683121|PMID:25741868|PMID:26467156|PMID:27942778|PMID:28492532|PMID:30462379 1311721 Nmi N-myc (and STAT) interactor gene DOID:0080600 COVID-19 ISO RGD:1323327 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1311721 Nmi N-myc (and STAT) interactor gene DOID:630 genetic disease ISO RGD:1323327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311721 Nmi N-myc (and STAT) interactor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311723 Cep295 centrosomal protein 295 gene DOID:0050778 Meckel syndrome ISO RGD:1602084 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 1311723 Cep295 centrosomal protein 295 gene DOID:1059 intellectual disability ISO RGD:1602084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311723 Cep295 centrosomal protein 295 gene DOID:630 genetic disease ISO RGD:1602084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311724 Capg capping actin protein, gelsolin like gene DOID:0080600 COVID-19 ISO RGD:1323330 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311724 Capg capping actin protein, gelsolin like gene DOID:3910 lung adenocarcinoma ISO RGD:1323330 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 1311724 Capg capping actin protein, gelsolin like gene DOID:4450 renal cell carcinoma ISO RGD:1323330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1311724 Capg capping actin protein, gelsolin like gene DOID:630 genetic disease ISO RGD:1323330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311724 Capg capping actin protein, gelsolin like gene DOID:9000058 Keloid ISO RGD:1323330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1311724 Capg capping actin protein, gelsolin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311724 Capg capping actin protein, gelsolin like gene DOID:9119 acute myeloid leukemia ISO RGD:1323330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 1311725 Fgd3 FYVE, RhoGEF and PH domain containing 3 gene DOID:630 genetic disease ISO RGD:1323332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:1323334 D RGD:11040460|PMID:19360458 20160308 RGD mRNA:increased expression:blood: 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323334 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0081097 Rafiq syndrome ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0111044 gray platelet syndrome ISO RGD:1323334 D RGD:11040508|PMID:24325358 20160309 RGD DNA:nonsense mutation:c.859C>T, p.Gln287X(human) 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:7240710 20190320 OMIM 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 PMID:1065298|PMID:23927492|PMID:24325358|PMID:25741868|PMID:28041820|PMID:30573501|PMID:31064749|PMID:34355501|PMID:5681484 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:12449 aplastic anemia ISO RGD:1323334 D RGD:11040507|PMID:17156408 20160309 RGD mRNA:decreased expression:bone marrow cell: 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323334 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:1588 thrombocytopenia ISO RGD:1323334 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:31064749 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:2213 hemorrhagic disease ISO RGD:1323334 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:2223 platelet storage pool deficiency ISO RGD:1323334 D RGD:8554872 20181113 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:3652 Leigh disease ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:630 genetic disease ISO RGD:1323334 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1323334 D RGD:11040507|PMID:17156408 20160309 RGD mRNA:increased expression:bone marrow cell: 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323334 D RGD:11040507|PMID:17156408 20160309 RGD mRNA:increased expression:bone marrow cell: 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1323334 D RGD:11040460|PMID:19360458 20160308 RGD mRNA:increased expression:blood: 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323334 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:1323334 D RGD:11040507|PMID:17156408 20160309 RGD mRNA:increased expression:bone marrow cell: 1311727 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323334 D RGD:11040460|PMID:19360458 20160308 RGD mRNA:increased expression:blood: 1311728 Arhgef38 Rho guanine nucleotide exchange factor 38 gene DOID:630 genetic disease ISO RGD:1603216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311729 Gpr139 G protein-coupled receptor 139 gene DOID:630 genetic disease ISO RGD:1323337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311730 Cep89 centrosomal protein 89 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1311730 Cep89 centrosomal protein 89 gene DOID:630 genetic disease ISO RGD:1605924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311730 Cep89 centrosomal protein 89 gene DOID:9266 cystinuria ISO RGD:1605924 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:21681106 1311731 Gstm6l glutathione S-transferase, mu 6-like gene DOID:0060041 autism spectrum disorder ISO RGD:1343128 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311731 Gstm6l glutathione S-transferase, mu 6-like gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343128 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1311731 Gstm6l glutathione S-transferase, mu 6-like gene DOID:12849 autistic disorder ISO RGD:1343128 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311731 Gstm6l glutathione S-transferase, mu 6-like gene DOID:1289 neurodegenerative disease ISO RGD:1343128 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 1311731 Gstm6l glutathione S-transferase, mu 6-like gene DOID:630 genetic disease ISO RGD:1343128 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311731 Gstm6l glutathione S-transferase, mu 6-like gene DOID:9002928 Colonic Neoplasms ISO RGD:1343128 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 1311732 Cfap36 cilia and flagella associated protein 36 gene DOID:630 genetic disease ISO RGD:1603927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:0060249 scoliosis ISO RGD:1323342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:0080100 congenital myopathy ISO RGD:1323342 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:0080991 multiminicore disease ISO RGD:1323342 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:30770808 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1323342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:0111546 Currarino syndrome ISO RGD:1323342 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1323342 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:1059 intellectual disability ISO RGD:1323342 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:630 genetic disease ISO RGD:1323342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:9002436 Congenital Myopathy 9B, Proximal, with Minicore Lesions ISO RGD:1323342 D RGD:7240710 20200520 OMIM 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:9002436 Congenital Myopathy 9B, Proximal, with Minicore Lesions ISO RGD:1323342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, congenital proximal, with minicore lesions PMID:25741868|PMID:30770808|PMID:35393337 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:9006903 Congenital Myopathy 9A ISO RGD:1323342 D RGD:7240710 20200805 OMIM 1311733 Fxr1 FMR1 autosomal homolog 1 gene DOID:9006903 Congenital Myopathy 9A ISO RGD:1323342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures PMID:25741868|PMID:28492532|PMID:30770808 1311734 Wwp1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1323344 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 1311734 Wwp1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1323344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311734 Wwp1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323344 D RGD:2302550|PMID:17726579 20081229 RGD 1311734 Wwp1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323344 D RGD:2302550|PMID:17726579 20081229 RGD 1311735 Arid5b AT-rich interaction domain 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1311735 Arid5b AT-rich interaction domain 5B gene DOID:12361 Graves' disease ISO RGD:1323345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 1311735 Arid5b AT-rich interaction domain 5B gene DOID:630 genetic disease ISO RGD:1323345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311735 Arid5b AT-rich interaction domain 5B gene DOID:7148 rheumatoid arthritis ISO RGD:1323345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963|PMID:23143596 1311735 Arid5b AT-rich interaction domain 5B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24712521 1311735 Arid5b AT-rich interaction domain 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1323345 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1311735 Arid5b AT-rich interaction domain 5B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323345 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19684603|PMID:19684604 1311738 Lrrc18 leucine rich repeat containing 18 gene DOID:11372 megacolon ISO RGD:1352045 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1311738 Lrrc18 leucine rich repeat containing 18 gene DOID:5419 schizophrenia ISO RGD:1352045 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311738 Lrrc18 leucine rich repeat containing 18 gene DOID:630 genetic disease ISO RGD:1352045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311739 Adissp adipose secreted signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323352 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1311739 Adissp adipose secreted signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1311739 Adissp adipose secreted signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323352 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1311740 Dhx32 DEAH-box helicase 32 (putative) gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1323353 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1311740 Dhx32 DEAH-box helicase 32 (putative) gene DOID:630 genetic disease ISO RGD:1323353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311740 Dhx32 DEAH-box helicase 32 (putative) gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:32989326 1311741 Cd2bp2 Cd2 (cytoplasmic tail) binding protein 2 gene DOID:630 genetic disease ISO RGD:1323355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311742 Spata24 spermatogenesis associated 24 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:3005862 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1311742 Spata24 spermatogenesis associated 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311742 Spata24 spermatogenesis associated 24 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:3005862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1311742 Spata24 spermatogenesis associated 24 gene DOID:630 genetic disease ISO RGD:3005862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311742 Spata24 spermatogenesis associated 24 gene DOID:9003318 Keratoconus 1 ISO RGD:3005862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Keratoconus 1 1311742 Spata24 spermatogenesis associated 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3005862 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311742 Spata24 spermatogenesis associated 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311745 RGD1311745 similar to RIKEN cDNA 1110059G10 gene DOID:630 genetic disease ISO RGD:1606528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311746 Hhat hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:7240710 20201223 OMIM 1311746 Hhat hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome PMID:24784881|PMID:25741868|PMID:28492532|PMID:30912300 1311746 Hhat hedgehog acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1351064 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311746 Hhat hedgehog acyltransferase gene DOID:630 genetic disease ISO RGD:1351064 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881 1311746 Hhat hedgehog acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351064 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1311746 Hhat hedgehog acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351064 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311747 Hpf1 histone PARylation factor 1 gene DOID:630 genetic disease ISO RGD:1606274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311748 Tcerg1 transcription elongation regulator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311748 Tcerg1 transcription elongation regulator 1 gene DOID:630 genetic disease ISO RGD:1323365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311748 Tcerg1 transcription elongation regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323365 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311748 Tcerg1 transcription elongation regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311748 Tcerg1 transcription elongation regulator 1 gene DOID:9256 colorectal cancer ISO RGD:1323365 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1311749 Gpn2 GPN-loop GTPase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1311749 Gpn2 GPN-loop GTPase 2 gene DOID:630 genetic disease ISO RGD:1603309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311750 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1348378 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 1311750 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1311750 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:630 genetic disease ISO RGD:1348378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311750 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9002884 Emphysema ISO RGD:1348378 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:33660100 1311750 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348378 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311750 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9538 multiple myeloma ISO RGD:1348378 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1603631 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:24056064|PMID:25741868|PMID:26694203|PMID:28677747 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1603631 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:1603631 D RGD:242905196|PMID:32550911 20230327 RGD human gene and cell line in a rat model 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:1603631 D RGD:242905212|PMID:33221518 20230328 RGD associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human) 1311751 Mesp1 mesoderm posterior bHLH transcription factor 1 gene DOID:9256 colorectal cancer ISO RGD:1603631 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311752 Dimt1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311752 Dimt1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603655 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:2717 Bloom syndrome ISO RGD:1323372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:3459 breast carcinoma ISO RGD:1323372 D RGD:8554872 20170905 ClinVar ClinVar Annotator: match by term: Breast carcinoma 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1323372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323372 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323372 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 1311754 Prc1 protein regulator of cytokinesis 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323372 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323374 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:28492532|PMID:29174527 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:630 genetic disease ISO RGD:1323374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:8445 intestinal volvulus ISO RGD:1323374 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323374 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16194727 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:7240710 20130221 OMIM 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527 1311755 Ctdp1 CTD phosphatase subunit 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323374 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1311756 Dglucy D-glutamate cyclase gene DOID:0080054 achondrogenesis type IA ISO RGD:1323376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1311756 Dglucy D-glutamate cyclase gene DOID:630 genetic disease ISO RGD:1323376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323378 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323378 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1323378 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323378 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1323378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1323378 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311757 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9870 galactosemia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1311758 Ddx41 DEAD-box helicase 41 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1311758 Ddx41 DEAD-box helicase 41 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32098966|PMID:33585199 1311758 Ddx41 DEAD-box helicase 41 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1311758 Ddx41 DEAD-box helicase 41 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1311758 Ddx41 DEAD-box helicase 41 gene DOID:12449 aplastic anemia ISO RGD:1323380 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Aplastic anemia 1311758 Ddx41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1323380 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism 1311758 Ddx41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to PMID:17576681|PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:27174803|PMID:27721487|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:31713024|PMID:32054657|PMID:32098966|PMID:33585199|PMID:33626862|PMID:9536098 1311758 Ddx41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm susceptibility ISO RGD:1323380 D RGD:7240710 20230118 OMIM 1311758 Ddx41 DEAD-box helicase 41 gene DOID:4961 bone marrow disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32054657|PMID:32098966|PMID:33585199 1311758 Ddx41 DEAD-box helicase 41 gene DOID:630 genetic disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311758 Ddx41 DEAD-box helicase 41 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323380 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 1311758 Ddx41 DEAD-box helicase 41 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323380 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311758 Ddx41 DEAD-box helicase 41 gene DOID:9119 acute myeloid leukemia ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:28492532|PMID:28547672|PMID:30963592|PMID:33585199 1311759 Ankrd49 ankyrin repeat domain 49 gene DOID:1059 intellectual disability ISO RGD:1606551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311759 Ankrd49 ankyrin repeat domain 49 gene DOID:12704 ataxia telangiectasia ISO RGD:1606551 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311759 Ankrd49 ankyrin repeat domain 49 gene DOID:630 genetic disease ISO RGD:1606551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311760 Rragc Ras-related GTP binding C gene DOID:0050873 follicular lymphoma ISO RGD:1323384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 1311760 Rragc Ras-related GTP binding C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323384 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311760 Rragc Ras-related GTP binding C gene DOID:630 genetic disease ISO RGD:1323384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311763 Arrdc4 arrestin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311764 Cpa6 carboxypeptidase A6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1323390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 1311764 Cpa6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:7240710 20140911 OMIM 1311764 Cpa6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 1311764 Cpa6 carboxypeptidase A6 gene DOID:0060755 familial temporal lobe epilepsy 2 ISO RGD:1323390 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 1311764 Cpa6 carboxypeptidase A6 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:24360807|PMID:24360808|PMID:28492532 1311764 Cpa6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:7240710 20140911 OMIM 1311764 Cpa6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:16199547|PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:27781031|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 1311764 Cpa6 carboxypeptidase A6 gene DOID:10283 prostate cancer ISO RGD:1323390 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311764 Cpa6 carboxypeptidase A6 gene DOID:1059 intellectual disability ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21922598|PMID:23105115|PMID:25741868|PMID:28492532|PMID:29358611 1311764 Cpa6 carboxypeptidase A6 gene DOID:1826 epilepsy ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 1311764 Cpa6 carboxypeptidase A6 gene DOID:2234 focal epilepsy ISO RGD:1323390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 1311764 Cpa6 carboxypeptidase A6 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 1311764 Cpa6 carboxypeptidase A6 gene DOID:630 genetic disease ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311764 Cpa6 carboxypeptidase A6 gene DOID:9000348 Confusion ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Confusion PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 1311764 Cpa6 carboxypeptidase A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323390 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 1311765 Prdm1 PR/SET domain 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1323391 D RGD:150530470|PMID:22321048 20211209 RGD 1311765 Prdm1 PR/SET domain 1 gene DOID:0080600 COVID-19 ISO RGD:1323391 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311765 Prdm1 PR/SET domain 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1323391 D RGD:150530467|PMID:24438193 20211209 RGD 1311765 Prdm1 PR/SET domain 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1323391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 1311765 Prdm1 PR/SET domain 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1323391 D RGD:150530469|PMID:28378641 20211209 RGD 1311765 Prdm1 PR/SET domain 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323391 D RGD:150530469|PMID:28378641 20211209 RGD 1311765 Prdm1 PR/SET domain 1 gene DOID:630 genetic disease ISO RGD:1323391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311765 Prdm1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:150530465|PMID:31100710 20211209 RGD associated with hepatitis B; 1311765 Prdm1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:150530466|PMID:31376415 20211209 RGD associated with hepatitis B;DNA:SNP: :rs1010273(human) 1311765 Prdm1 PR/SET domain 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1323391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 1311765 Prdm1 PR/SET domain 1 gene DOID:8577 ulcerative colitis ISO RGD:1323391 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 1311765 Prdm1 PR/SET domain 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1323391 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:33109608 1311765 Prdm1 PR/SET domain 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323391 D RGD:150530465|PMID:31100710 20211209 RGD 1311765 Prdm1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 1311765 Prdm1 PR/SET domain 1 gene DOID:9256 colorectal cancer ISO RGD:1323391 D RGD:150530478|PMID:32393998 20211210 RGD mRNA:increased expression:colorectum: 1311766 Cdc73 cell division cycle 73 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1323393 D RGD:150537040|PMID:24257751 20211221 RGD mRNA:altered expression: tongue, oral cavity (human) 1311766 Cdc73 cell division cycle 73 gene DOID:10534 stomach cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:mucosa of stomach (human) PMID:29221126|REF_RGD_ID:150539444 1311766 Cdc73 cell division cycle 73 gene DOID:1324 lung cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:lung (human) PMID:29221126|REF_RGD_ID:150539444 1311766 Cdc73 cell division cycle 73 gene DOID:13543 hyperparathyroidism ISO RGD:1323393 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:20301744|PMID:25741868 1311766 Cdc73 cell division cycle 73 gene DOID:13543 hyperparathyroidism ISO RGD:1555621 D RGD:1599666|PMID:12434154 20070209 RGD Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary, OMIM:145001 1311766 Cdc73 cell division cycle 73 gene DOID:13543 hyperparathyroidism ISS RGD:1614198 D RGD:13592920 20180518 MouseDO OMIM:145000 | OMIM:145001 | OMIM:610071 1311766 Cdc73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:7240710 20190315 OMIM 1311766 Cdc73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15070940|PMID:15531515|PMID:15580289|PMID:15613436|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17314275|PMID:17468190|PMID:17576681|PMID:18755853|PMID:19017757|PMID:19332451|PMID:20052758|PMID:20301744|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21652691|PMID:21732217|PMID:22187299|PMID:22703879|PMID:22987117|PMID:23029104|PMID:2329331|PMID:23293331|PMID:23757631|PMID:24340015|PMID:24716902|PMID:24728327|PMID:24823466|PMID:25388829|PMID:25444225|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:26650250|PMID:27679651|PMID:28394026|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29142233|PMID:29225260|PMID:29324469|PMID:29641532|PMID:29755684|PMID:30262796|PMID:30885698|PMID:32590342|PMID:33332384|PMID:9536098 1311766 Cdc73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma disease_progression ISO RGD:1323393 D RGD:150539446|PMID:27490759 20211228 RGD protein:decreased expression:parathyroid gland (human) 1311766 Cdc73 cell division cycle 73 gene DOID:1612 breast cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:breast (human) PMID:29221126|REF_RGD_ID:150539444 1311766 Cdc73 cell division cycle 73 gene DOID:180 ossifying fibroma ISO RGD:1323393 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Ossifying fibroma of the jaw PMID:27658992 1311766 Cdc73 cell division cycle 73 gene DOID:2394 ovarian cancer ISO RGD:1323393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25741868|PMID:28492532|PMID:30262796 1311766 Cdc73 cell division cycle 73 gene DOID:2394 ovarian cancer severity ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:ovary (human) PMID:29221126|REF_RGD_ID:150539444 1311766 Cdc73 cell division cycle 73 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:1323393 D RGD:150539447|PMID:27334641 20211228 RGD protein:decreased expression:larynx (human) 1311766 Cdc73 cell division cycle 73 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:stomach (human) PMID:18080135|REF_RGD_ID:150539445 1311766 Cdc73 cell division cycle 73 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323393 D RGD:150537041|PMID:21692036 20211221 RGD mRNA:decreased expression:lung (human) 1311766 Cdc73 cell division cycle 73 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1323393 D RGD:11065919|PMID:26124004 20211221 RGD protein:increased expression:squamous epithelium (human) 1311766 Cdc73 cell division cycle 73 gene DOID:630 genetic disease ISO RGD:1323393 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12434154 1311766 Cdc73 cell division cycle 73 gene DOID:7608 parathyroid adenoma ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12434154|PMID:15531515|PMID:16061557|PMID:16199547|PMID:25741868|PMID:28492532 1311766 Cdc73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 1311766 Cdc73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:15070940|PMID:15613436|PMID:17065424|PMID:20052758|PMID:20301744|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29641532 1311766 Cdc73 cell division cycle 73 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:1323393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1311766 Cdc73 cell division cycle 73 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:1555621 D RGD:1599665|PMID:14585940 20070209 RGD 1311766 Cdc73 cell division cycle 73 gene DOID:9006156 Familial Cystic Parathyroid Adenomatosis ISO RGD:1323393 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Cystic parathyroid adenoma PMID:12434154 1311766 Cdc73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 1311766 Cdc73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15531515|PMID:15580289|PMID:15632063|PMID:16061557|PMID:16199547|PMID:17065424|PMID:17576681|PMID:19017757|PMID:20052758|PMID:20301744|PMID:20979880|PMID:21681106|PMID:22187299|PMID:22703879|PMID:23029104|PMID:23293331|PMID:24716902|PMID:25444225|PMID:25637381|PMID:25741868|PMID:25959515|PMID:28492532|PMID:28774260|PMID:28833384|PMID:28881068|PMID:29641532|PMID:30262796|PMID:9536098 1311766 Cdc73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12960210|PMID:14985403|PMID:17065424|PMID:19332451|PMID:20052758|PMID:25741868|PMID:28166811|PMID:28492532 1311766 Cdc73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098 1311766 Cdc73 cell division cycle 73 gene DOID:9007696 Parathyroid Cancer ISO RGD:1323393 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Parathyroid cancer PMID:25741868|PMID:28492532 1311766 Cdc73 cell division cycle 73 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12434154|PMID:22187299|PMID:23293331|PMID:25741868|PMID:25959515|PMID:28492532 1311766 Cdc73 cell division cycle 73 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323393 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311766 Cdc73 cell division cycle 73 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1323393 D RGD:150539448|PMID:21315421 20211228 RGD mRNA:increased expression:colorectum (human) 1311767 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1311767 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311767 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:1059 intellectual disability ISO RGD:1323395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311767 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1323395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 1311767 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:630 genetic disease ISO RGD:1323395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311770 Foxj3 forkhead box J3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323400 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311770 Foxj3 forkhead box J3 gene DOID:630 genetic disease ISO RGD:1323400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311771 Commd1 copper metabolism domain containing 1 gene DOID:1205 allergic disease ISO RGD:1323402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22216203 1311771 Commd1 copper metabolism domain containing 1 gene DOID:5082 liver cirrhosis ISO RGD:1323402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 1311771 Commd1 copper metabolism domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1323402 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311771 Commd1 copper metabolism domain containing 1 gene DOID:630 genetic disease ISO RGD:1323402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311771 Commd1 copper metabolism domain containing 1 gene DOID:893 Wilson disease ISO RGD:12302435 D RGD:9068941 20230427 OMIA Copper toxicosis, COMMD1-related PMID:10384054|PMID:10442980|PMID:10585777|PMID:10772489|PMID:10803990|PMID:10818210|PMID:10901220|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:12648098|PMID:12816967|PMID:12925897|PMID:1380748|PMID:14568250|PMID:15028882|PMID:15205742|PMID:15566097|PMID:16293123|PMID:16649058|PMID:16868807|PMID:17099181|PMID:17355395|PMID:17572118|PMID:18305350|PMID:22029820|PMID:22879914|PMID:24758744|PMID:31179308|PMID:31504675|PMID:31557851|PMID:32053895|PMID:33129558|PMID:3343179|PMID:33668783|PMID:37038639|PMID:6639527|PMID:6710813|PMID:6869968|PMID:6939891|PMID:7065120|PMID:7114265|PMID:7212417|PMID:8432554|PMID:8989491|PMID:9587195|PMID:9949209 1311771 Commd1 copper metabolism domain containing 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1323402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 1311771 Commd1 copper metabolism domain containing 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583003 1311771 Commd1 copper metabolism domain containing 1 gene DOID:9006855 Dog Diseases ISO RGD:1323402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 1311771 Commd1 copper metabolism domain containing 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:1323402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914|PMID:25053573 1311772 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to PMID:24033266|PMID:24791904|PMID:25741868|PMID:28887889 1311772 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 susceptibility ISO RGD:1323403 D RGD:7240710 20190904 OMIM 1311772 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:630 genetic disease ISO RGD:1323403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311772 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:8893 psoriasis ISO RGD:1323403 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1311772 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323403 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311773 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1602728 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311773 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1602728 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1311773 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:5082 liver cirrhosis ISO RGD:1602728 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 1311773 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1602728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311774 Btf3l4 basic transcription factor 3-like 4 gene DOID:630 genetic disease ISO RGD:1605903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311777 Mrpl4 mitochondrial ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:1323408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311778 Crnn cornulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311778 Crnn cornulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311778 Crnn cornulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311778 Crnn cornulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323410 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311778 Crnn cornulin gene DOID:5812 MHC class II deficiency ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311778 Crnn cornulin gene DOID:630 genetic disease ISO RGD:1323410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311778 Crnn cornulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323410 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311779 Tpcn2 two pore segment channel 2 gene DOID:1059 intellectual disability ISO RGD:1323411 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311779 Tpcn2 two pore segment channel 2 gene DOID:630 genetic disease ISO RGD:1323411 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1311779 Tpcn2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:7240710 20210818 OMIM 1311779 Tpcn2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 10 PMID:18488028|PMID:25741868 1311779 Tpcn2 two pore segment channel 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311779 Tpcn2 two pore segment channel 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323411 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311779 Tpcn2 two pore segment channel 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311781 Casp14 caspase 14 gene DOID:630 genetic disease ISO RGD:1323414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311781 Casp14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:7240710 20190315 OMIM 1311781 Casp14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 PMID:25741868|PMID:27494380|PMID:28492532 1311782 Dsc3 desmocollin 3 gene DOID:1059 intellectual disability ISO RGD:1323416 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311782 Dsc3 desmocollin 3 gene DOID:630 genetic disease ISO RGD:1323416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311782 Dsc3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:7240710 20150610 OMIM 1311782 Dsc3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles PMID:19765682|PMID:25741868|PMID:31790667 1311782 Dsc3 desmocollin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 1311783 Borcs7 BLOC-1 related complex subunit 7 gene DOID:2367 neuroaxonal dystrophy ISS RGD:1623226 D RGD:13592920 20190523 MouseDO 1311783 Borcs7 BLOC-1 related complex subunit 7 gene DOID:2476 hereditary spastic paraplegia ISS RGD:1623226 D RGD:13592920 20190523 MouseDO 1311783 Borcs7 BLOC-1 related complex subunit 7 gene DOID:5419 schizophrenia ISO RGD:1323417 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 1311783 Borcs7 BLOC-1 related complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311784 Rptor regulatory associated protein of MTOR, complex 1 gene DOID:630 genetic disease ISO RGD:1603019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311784 Rptor regulatory associated protein of MTOR, complex 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1603019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1311784 Rptor regulatory associated protein of MTOR, complex 1 gene DOID:9009121 lung metastasis ISO RGD:1323418 D RGD:152995516|PMID:29809146 20220628 RGD 1311784 Rptor regulatory associated protein of MTOR, complex 1 gene DOID:9923 developmental coordination disorder ISO RGD:1603019 D RGD:11554173 20201217 CTD CTD Direct Evidence: therapeutic PMID:32773031 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604612 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:7240710 20190315 OMIM 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31434271|PMID:31589614|PMID:32964447|PMID:33613441|PMID:35628876 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604612 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604612 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:32964447|PMID:33613441 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1604612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1604612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20858599 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604612 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1604612 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1604612 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1311785 Foxred1 FAD-dependent oxidoreductase domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 1311786 Usp6nl USP6 N-terminal like gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323420 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1311786 Usp6nl USP6 N-terminal like gene DOID:1909 melanoma ISO RGD:1323420 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1311786 Usp6nl USP6 N-terminal like gene DOID:630 genetic disease ISO RGD:1323420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311787 Mysm1 myb-like, SWIRM and MPN domains 1 gene DOID:614 lymphopenia ISO RGD:1551048 D RGD:9589161|PMID:22184403 20141110 RGD 1311787 Mysm1 myb-like, SWIRM and MPN domains 1 gene DOID:630 genetic disease ISO RGD:1602839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311787 Mysm1 myb-like, SWIRM and MPN domains 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1602839 D RGD:9589162|PMID:21310492 20141110 RGD associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) 1311787 Mysm1 myb-like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:7240710 20190315 OMIM 1311787 Mysm1 myb-like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 4 PMID:16199547|PMID:22184403|PMID:24288411|PMID:25741868|PMID:26220525|PMID:28115216|PMID:28492532 1311788 Tspan13 tetraspanin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323423 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311788 Tspan13 tetraspanin 13 gene DOID:630 genetic disease ISO RGD:1323423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311790 R3hcc1 R3H domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1603166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311790 R3hcc1 R3H domain and coiled-coil containing 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:0050328 congenital hypothyroidism IEP D RGD:11049475|PMID:23459330 20160405 RGD protein:decreased expression:frontal cortex (rat) 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323427 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323427 D RGD:11049488|PMID:22089643 20170201 RGD mRNA:increased expression:lung (human) 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323427 D RGD:11049488|PMID:22089643 20160406 RGD mRNA:increased expression:lung (human) 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:630 genetic disease ISO RGD:1323427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment IEP D RGD:11049469|PMID:17997938 20160405 RGD 1311791 Arpc5 actin related protein 2/3 complex, subunit 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323427 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1323429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1323429 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:7240710 20220427 OMIM 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder PMID:16199547|PMID:25741868|PMID:28397838|PMID:28492532|PMID:29302074|PMID:33414379|PMID:34163010 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1323429 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1323429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28397838|PMID:33414379 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323429 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323429 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:630 genetic disease ISO RGD:1323429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311792 Pidd1 p53-induced death domain protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1323429 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1311793 Prag1 PEAK1 related kinase activating pseudokinase 1 gene DOID:630 genetic disease ISO RGD:11554295 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311794 Abi3 ABI family, member 3 gene DOID:10652 Alzheimer's disease ISO RGD:1323432 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 1311794 Abi3 ABI family, member 3 gene DOID:630 genetic disease ISO RGD:1323432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311796 Gadd45g growth arrest and DNA-damage-inducible, gamma gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:14700866|PMID:16736195 20190821 RGD mRNA,protein:increased expression:kidney 1311796 Gadd45g growth arrest and DNA-damage-inducible, gamma gene DOID:630 genetic disease ISO RGD:1323436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311799 Fermt2 FERM domain containing kindlin 2 gene DOID:11054 urinary bladder cancer ISO RGD:1323441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21624607 1311799 Fermt2 FERM domain containing kindlin 2 gene DOID:13550 angle-closure glaucoma ISO RGD:1323441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 1311799 Fermt2 FERM domain containing kindlin 2 gene DOID:630 genetic disease ISO RGD:1323441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311799 Fermt2 FERM domain containing kindlin 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1323441 D RGD:11352307|PMID:22391155 20160713 RGD 1311800 Stbd1 starch binding domain 1 gene DOID:630 genetic disease ISO RGD:1604058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311800 Stbd1 starch binding domain 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1311800 Stbd1 starch binding domain 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1311801 Syngr3 synaptogyrin 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1311801 Syngr3 synaptogyrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1311801 Syngr3 synaptogyrin 3 gene DOID:1826 epilepsy ISO RGD:1323444 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1311801 Syngr3 synaptogyrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323444 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311801 Syngr3 synaptogyrin 3 gene DOID:630 genetic disease ISO RGD:1323444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311802 Nudt18 nudix hydrolase 18 gene DOID:630 genetic disease ISO RGD:1605623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311802 Nudt18 nudix hydrolase 18 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1311804 Qser1 glutamine and serine rich 1 gene DOID:1059 intellectual disability ISO RGD:1605632 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311804 Qser1 glutamine and serine rich 1 gene DOID:630 genetic disease ISO RGD:1605632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311805 Rmc1 regulator of MON1-CCZ1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1323450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1311805 Rmc1 regulator of MON1-CCZ1 gene DOID:1059 intellectual disability ISO RGD:1323450 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:7240710 20190315 OMIM 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 4 PMID:20817635|PMID:25741868|PMID:26491070|PMID:28492532|PMID:3653362 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323451 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0080855 Parkinsonism IEP D RGD:6784518|PMID:21542017 20120802 RGD protein:decreased expression:striatum 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323451 D RGD:10402560|PMID:17050040 20151027 RGD 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323452 D RGD:10402560|PMID:17050040 20151027 RGD 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:13141 uveitis ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16565515 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:6784528|PMID:20817635 20120802 RGD DNA:mutation:cds:A>T476(human) 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:6784529|PMID:19657588 20120802 RGD DNA:mutations:multiple: 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:6784531|PMID:16565515 20120802 RGD protein:decreased expression:brain 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease disease_progression ISO RGD:1323451 D RGD:6784530|PMID:18219256 20120802 RGD 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:2316 brain ischemia IEP D RGD:6784525|PMID:7629893 20120802 RGD mRNA:increased expression:brain 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:417 autoimmune disease ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:4450 renal cell carcinoma ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:630 genetic disease ISO RGD:1323451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1323451 D RGD:10402561|PMID:23739258 20151027 RGD protein:increased expression:synovial cell: 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:8955 sideroblastic anemia ISO RGD:1323451 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323451 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9005930 Endotoxemia ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:7240710 20190315 OMIM 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome PMID:25741868|PMID:26598328|PMID:28492532 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311806 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9007102 Myocardial Ischemia ISO RGD:1323451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1311807 Osr1 odd-skipped related transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311809 Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 gene DOID:0111947 immunodeficiency 21 ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1311809 Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1323457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311809 Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 1311809 Pik3r4 phosphoinositide-3-kinase, regulatory subunit 4 gene DOID:9270 alkaptonuria ISO RGD:1323457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311811 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:0080600 COVID-19 ISO RGD:1323460 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1311811 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:37 skin disease ISO RGD:1323460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311811 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:630 genetic disease ISO RGD:1323460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311811 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311811 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1311812 Ferd3l Fer3-like bHLH transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323462 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311812 Ferd3l Fer3-like bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1323462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311813 Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1349545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311813 Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1349545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311815 Ddi2 DNA damage inducible 1 homolog 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603951 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1311815 Ddi2 DNA damage inducible 1 homolog 2 gene DOID:630 genetic disease ISO RGD:1603951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311815 Ddi2 DNA damage inducible 1 homolog 2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603951 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 1311816 Polr3d RNA polymerase III subunit D gene DOID:630 genetic disease ISO RGD:1323468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311816 Polr3d RNA polymerase III subunit D gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1323468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11831056 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:21079461|PMID:30385147 20200427 RGD DNA:missense mutations, deletion, frameshift mutation:multiple 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:25671428|PMID:9888388 20200427 RGD DNA:mutations:multiple 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:25671429|PMID:15896662 20200427 RGD DNA:missense mutations, nonsense mutation:exons:multiple 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:25671430|PMID:12181641 20200427 RGD DNA:missense mutations:exons:multiple 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:7240710 20130221 OMIM 1311817 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary coproporphyria PMID:11309681|PMID:12181641|PMID:16159891|PMID:17576681|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30385147|PMID:33763395|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777|PMID:9536098|PMID:9888388 1311817 Cpox coproporphyrinogen oxidase gene DOID:3132 porphyria cutanea tarda ISO RGD:1323470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11831056 1311817 Cpox coproporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1323470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria PMID:28492532 1311817 Cpox coproporphyrinogen oxidase gene DOID:409 liver disease susceptibility ISO RGD:1323470 D RGD:1600955|PMID:7849704 20070402 RGD Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S 1311817 Cpox coproporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311817 Cpox coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:25671431|PMID:6886003 20200427 RGD protein:altered activity:blood, lymphocyte (human) 1311817 Cpox coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:7240710 20200805 OMIM 1311817 Cpox coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Harderoporphyria PMID:16159891|PMID:21103937|PMID:24078084|PMID:25741868|PMID:28492532|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777 1311817 Cpox coproporphyrinogen oxidase gene DOID:9002457 Experimental Arthritis IEP D RGD:1600958|PMID:9173682 20070402 RGD protein:decreased activity:liver (rat) 1311817 Cpox coproporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias IEP D RGD:4144824|PMID:19482825 20101026 RGD protein:decreased activity:liver, mitochondrial inner membrane (rat) 1311817 Cpox coproporphyrinogen oxidase gene DOID:9005794 Coproporphyria ISO RGD:1323470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic PMID:11309681|PMID:12181641|PMID:12227458|PMID:16398658|PMID:25741868|PMID:27959697|PMID:28492532|PMID:33763395|PMID:7987309|PMID:8159699|PMID:8286403|PMID:8990017|PMID:9843038 1311817 Cpox coproporphyrinogen oxidase gene DOID:9005794 Coproporphyria ISO RGD:1323471 D RGD:19165350|PMID:2079105 20200427 RGD protein:decreased activity:liver (mouse) 1311819 Pop5 POP5 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1323474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311820 Rasal1 RAS protein activator like 1 gene DOID:557 kidney disease ISO RGD:1323476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 1311820 Rasal1 RAS protein activator like 1 gene DOID:630 genetic disease ISO RGD:1323476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311821 Dtd1 D-aminoacyl-tRNA deacylase 1 gene DOID:630 genetic disease ISO RGD:1323478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311822 Gstcd glutathione S-transferase, C-terminal domain containing gene DOID:630 genetic disease ISO RGD:1602688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311822 Gstcd glutathione S-transferase, C-terminal domain containing gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 1311823 Prss37 serine protease 37 gene DOID:0080690 RASopathy ISO RGD:1604236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1311823 Prss37 serine protease 37 gene DOID:630 genetic disease ISO RGD:1604236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1311823 Prss37 serine protease 37 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1604236 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1311825 Usp14 ubiquitin specific peptidase 14 gene DOID:0050646 distal arthrogryposis ISO RGD:1323483 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement PMID:25741868|PMID:35066879 1311825 Usp14 ubiquitin specific peptidase 14 gene DOID:12849 autistic disorder ISO RGD:1323483 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311825 Usp14 ubiquitin specific peptidase 14 gene DOID:630 genetic disease ISO RGD:1323483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311825 Usp14 ubiquitin specific peptidase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323483 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311826 Rcan3 RCAN family member 3 gene DOID:630 genetic disease ISO RGD:1323485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311827 Rhbdd3 rhomboid domain containing 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1323487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1311827 Rhbdd3 rhomboid domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1323487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1311827 Rhbdd3 rhomboid domain containing 3 gene DOID:630 genetic disease ISO RGD:1323487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311827 Rhbdd3 rhomboid domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1311829 Mrps27 mitochondrial ribosomal protein S27 gene DOID:630 genetic disease ISO RGD:1323490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311829 Mrps27 mitochondrial ribosomal protein S27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323490 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311830 Fbxl22 F-box and leucine-rich repeat protein 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350469 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1311830 Fbxl22 F-box and leucine-rich repeat protein 22 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350469 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1311830 Fbxl22 F-box and leucine-rich repeat protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1350469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311830 Fbxl22 F-box and leucine-rich repeat protein 22 gene DOID:630 genetic disease ISO RGD:1350469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311830 Fbxl22 F-box and leucine-rich repeat protein 22 gene DOID:9256 colorectal cancer ISO RGD:1350469 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311831 Lrfn2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1323494 D RGD:13592920 20180518 MouseDO 1311831 Lrfn2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1323493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311832 Gpr65 G-protein coupled receptor 65 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1323495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 1311832 Gpr65 G-protein coupled receptor 65 gene DOID:630 genetic disease ISO RGD:1323495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311832 Gpr65 G-protein coupled receptor 65 gene DOID:8577 ulcerative colitis ISO RGD:1323495 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30616622 1311833 Pals2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:0080600 COVID-19 ISO RGD:1323497 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311833 Pals2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323497 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1311835 Derl1 derlin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1346784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1311835 Derl1 derlin 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346784 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1311835 Derl1 derlin 1 gene DOID:630 genetic disease ISO RGD:1346784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311836 Mterf2 mitochondrial transcription termination factor 2 gene DOID:0080600 COVID-19 ISO RGD:1604591 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311836 Mterf2 mitochondrial transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1604591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311838 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1311838 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311838 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:630 genetic disease ISO RGD:1323505 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311838 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1311838 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1323505 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:25741868|PMID:26785492|PMID:27485310|PMID:27670201|PMID:32368696|PMID:35137168 1311839 Hddc3 HD domain containing 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1311839 Hddc3 HD domain containing 3 gene DOID:2717 Bloom syndrome ISO RGD:1606390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311839 Hddc3 HD domain containing 3 gene DOID:630 genetic disease ISO RGD:1606390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311840 Dok3 docking protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1311840 Dok3 docking protein 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1323508 D RGD:152177496|PMID:27354594 20220512 RGD DNA:SNP:3'utr: (rs2279398) (human) 1311840 Dok3 docking protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1311840 Dok3 docking protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1323508 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1311840 Dok3 docking protein 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1323509 D RGD:152177521|PMID:20139980 20220517 RGD 1311840 Dok3 docking protein 3 gene DOID:630 genetic disease ISO RGD:1323508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311840 Dok3 docking protein 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1323508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 1311840 Dok3 docking protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323508 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353901 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1353901 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1353901 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma PMID:21802064 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:0111773 46,XY sex reversal 8 ISO RGD:1353901 D RGD:7240710 20141015 OMIM 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:0111773 46,XY sex reversal 8 ISO RGD:1353901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 8 PMID:21802064|PMID:25741868|PMID:4352099 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:1923 disorder of sexual development ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:2773 contact dermatitis ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:289 endometriosis ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21232532 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:5419 schizophrenia ISO RGD:1353901 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:630 genetic disease ISO RGD:1353901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:8398 osteoarthritis ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:9004657 Weight Gain ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19696165 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:9008046 Neoplasms, Hormone-Dependent ISO RGD:1353901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 1311841 Akr1c2 aldo-keto reductase family 1, member C2 gene DOID:9970 obesity ISO RGD:1353901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:15494612|REF_RGD_ID:1626148 1311843 N6amt1 N-6 adenine-specific DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311844 Orc2 origin recognition complex, subunit 2 gene DOID:630 genetic disease ISO RGD:1323514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311844 Orc2 origin recognition complex, subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1323514 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1311844 Orc2 origin recognition complex, subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323514 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311845 Cdadc1 cytidine and dCMP deaminase domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323516 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1311845 Cdadc1 cytidine and dCMP deaminase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323516 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311845 Cdadc1 cytidine and dCMP deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311847 C16h19orf44 similar to human chromosome 19 open reading frame 44 gene DOID:630 genetic disease ISO RGD:1602089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311848 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:1059 intellectual disability ISO RGD:1607023 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30940925 1311848 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:630 genetic disease ISO RGD:1607023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311848 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607023 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1311848 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1607023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311848 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:7240710 20190918 OMIM 1311848 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES PMID:25078763|PMID:25741868|PMID:30940925 1311849 Focad focadhesin gene DOID:5082 liver cirrhosis ISO RGD:1352316 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35864190 1311849 Focad focadhesin gene DOID:5419 schizophrenia ISO RGD:1352316 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311849 Focad focadhesin gene DOID:630 genetic disease ISO RGD:1352316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311849 Focad focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:7240710 20220831 OMIM 1311849 Focad focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Liver disease, severe congenital PMID:35864190 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:0080205 CAKUT ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28381549|PMID:30143558 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1323522 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1323522 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:11476 osteoporosis ISO RGD:1323522 D RGD:10045825|PMID:16530497 20150617 RGD DNA:silent mutation, haplotype:p.G75G (human) 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:2843 long QT syndrome ISO RGD:1323522 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1323522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:5844 myocardial infarction ISO RGD:1323522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:6000 congestive heart failure ISO RGD:1323522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1323522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323522 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:1323522 D RGD:10045849|PMID:22335445 20150617 RGD DNA:silent mutation:cds:p.G75G (human) 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27348297 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:7240710 20190315 OMIM 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 PMID:25741868|PMID:28381549|PMID:28492532|PMID:30143558 1311850 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 1311852 Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:0111546 Currarino syndrome ISO RGD:1323526 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1311852 Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1323526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311852 Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:6457 Cowden syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 1311853 Laptm4b lysosomal protein transmembrane 4 beta gene DOID:630 genetic disease ISO RGD:1323527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311854 Olfml1 olfactomedin-like 1 gene DOID:630 genetic disease ISO RGD:1323529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311855 Brd1 bromodomain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323531 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 1311855 Brd1 bromodomain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1311855 Brd1 bromodomain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1323531 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1311855 Brd1 bromodomain containing 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 1311855 Brd1 bromodomain containing 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1323531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1311855 Brd1 bromodomain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323531 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311855 Brd1 bromodomain containing 1 gene DOID:11832 visual epilepsy IEP D RGD:9586108|PMID:22675730 20140929 RGD 1311855 Brd1 bromodomain containing 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1323531 D RGD:9586096|PMID:16924267 20140929 RGD DNA,SNP,haplotype:3'UTR: 1311855 Brd1 bromodomain containing 1 gene DOID:5419 schizophrenia no_association ISO RGD:1323531 D RGD:9586358|PMID:19908236 20140930 RGD DNA:SNP:promoter:rs138880(human) 1311855 Brd1 bromodomain containing 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:1323531 D RGD:9586096|PMID:16924267 20140929 RGD DNA,SNPs,haplotype:promoter,3'UTR: 1311855 Brd1 bromodomain containing 1 gene DOID:630 genetic disease ISO RGD:1323531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0050439 Usher syndrome ISO RGD:1604336 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604336 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1604336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25130867|PMID:25741868|PMID:28492532 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:5119 ovarian cyst ISO RGD:1604336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604336 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29410512 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:83 cataract ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25130867|PMID:25741868|PMID:8409271 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:870 neuropathy ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25130867|PMID:25741868|PMID:28492532 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:7240710 20171011 OMIM 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia PMID:25130867|PMID:25741868|PMID:28328135|PMID:28492532|PMID:30041933|PMID:30419932|PMID:8409271 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9006949 Martsolf Syndrome ISO RGD:1604336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 1311857 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604336 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311858 Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:630 genetic disease ISO RGD:1323534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311858 Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311859 Odad4 outer dynein arm docking complex subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1606214 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1311859 Odad4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:7240710 20190315 OMIM 1311859 Odad4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 35 PMID:25741868|PMID:27486780 1311859 Odad4 outer dynein arm docking complex subunit 4 gene DOID:630 genetic disease ISO RGD:1606214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311859 Odad4 outer dynein arm docking complex subunit 4 gene DOID:758 situs inversus ISO RGD:1606214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1311860 Scoc short coiled-coil protein gene DOID:630 genetic disease ISO RGD:1323537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311861 Fbxo45 F-box protein 45 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1349858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1311861 Fbxo45 F-box protein 45 gene DOID:12849 autistic disorder ISO RGD:1349858 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311861 Fbxo45 F-box protein 45 gene DOID:5419 schizophrenia ISO RGD:1349858 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311861 Fbxo45 F-box protein 45 gene DOID:630 genetic disease ISO RGD:1349858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1353673 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:1826 epilepsy ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:2018 hyperinsulinism ISO RGD:1558478 D RGD:1641947|PMID:16638826 20070824 RGD 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:4195 hyperglycemia ISO RGD:1558478 D RGD:1641947|PMID:16638826 20070824 RGD 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:630 genetic disease ISO RGD:1353673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311862 Mgrn1 mahogunin ring finger 1 gene DOID:9970 obesity ISO RGD:1558478 D RGD:1641947|PMID:16638826 20070824 RGD 1311863 Carnmt1 carnosine N-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1323541 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1311863 Carnmt1 carnosine N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311865 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098 1311865 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098 1311865 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 1311865 Mtmr2 myotubularin related protein 2 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:28492532 1311865 Mtmr2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:7240710 20130221 OMIM 1311865 Mtmr2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:10802647|PMID:11354824|PMID:12398840|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098 1311865 Mtmr2 myotubularin related protein 2 gene DOID:1059 intellectual disability ISO RGD:1323545 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311865 Mtmr2 myotubularin related protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792 1311865 Mtmr2 myotubularin related protein 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1323545 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1311865 Mtmr2 myotubularin related protein 2 gene DOID:630 genetic disease ISO RGD:1323545 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802647|PMID:10856930|PMID:11283303|PMID:12668758|PMID:12925573|PMID:14530412|PMID:15998640|PMID:16162938|PMID:17576681|PMID:19587293|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32376792|PMID:32657593|PMID:9536098 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348432 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:1348432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 PMID:10969262|PMID:15128933|PMID:16549493|PMID:24033266|PMID:25741868|PMID:25942481|PMID:28492532|PMID:28548312|PMID:8201479 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:7240710 20130221 OMIM 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B PMID:10969262|PMID:15128933|PMID:16549493|PMID:22855339|PMID:24033266|PMID:25741868|PMID:25942481|PMID:27716192|PMID:28492532|PMID:28548312|PMID:32115644|PMID:33715104|PMID:8201479 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:1059 intellectual disability ISO RGD:1348432 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:28492532 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:5082 liver cirrhosis ISO RGD:1348432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1348432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 1311866 Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348432 D RGD:2315692|PMID:17607662 20100108 RGD DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1603348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:10960496|PMID:11058907|PMID:11073722|PMID:11854167|PMID:12948740|PMID:15248096|PMID:15505393|PMID:16602100|PMID:17188916|PMID:17478444|PMID:17576681|PMID:18683078|PMID:18926513|PMID:19486177|PMID:1951469|PMID:19630565|PMID:21031586|PMID:21176883|PMID:22728054|PMID:23104440|PMID:24973495|PMID:25256449|PMID:25735478|PMID:25741868|PMID:27250579|PMID:27672653|PMID:28302372|PMID:28438223|PMID:28492532|PMID:29201125|PMID:29665094|PMID:31536184|PMID:31952437|PMID:32005694|PMID:34258142|PMID:34344405|PMID:8900227|PMID:8900228|PMID:9536098|PMID:9600243|PMID:9711871 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1603348 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:630 genetic disease ISO RGD:1603348 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 1311867 Syce2 synaptonemal complex central element protein 2 gene DOID:9009132 Glutaric Aciduria ISO RGD:1603348 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868 1311868 Cenpl centromere protein L gene DOID:1540 parathyroid carcinoma ISO RGD:1605310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311868 Cenpl centromere protein L gene DOID:3755 antithrombin III deficiency ISO RGD:1605310 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1311868 Cenpl centromere protein L gene DOID:630 genetic disease ISO RGD:1605310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311868 Cenpl centromere protein L gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1311868 Cenpl centromere protein L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1311868 Cenpl centromere protein L gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605310 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1311868 Cenpl centromere protein L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605310 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311869 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0080600 COVID-19 ISO RGD:1323550 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311869 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1311869 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:2843 long QT syndrome ISO RGD:1323550 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1311869 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:630 genetic disease ISO RGD:1323550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311869 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9586349|PMID:23702776 20140929 RGD associated with Hypertension;protein:increased expression:heart left ventricle 1311871 Pus1 pseudouridine synthase 1 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1323553 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 1311871 Pus1 pseudouridine synthase 1 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:28492532 1311871 Pus1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:7240710 20190320 OMIM 1311871 Pus1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 PMID:14981724|PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25326637|PMID:25741868|PMID:26556812|PMID:28492532|PMID:7726239 1311871 Pus1 pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1323553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311871 Pus1 pseudouridine synthase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532 1311871 Pus1 pseudouridine synthase 1 gene DOID:8955 sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia PMID:25741868|PMID:28492532 1311871 Pus1 pseudouridine synthase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1311871 Pus1 pseudouridine synthase 1 gene DOID:9000918 Disease Progression ISO RGD:1323553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1311871 Pus1 pseudouridine synthase 1 gene DOID:9256 colorectal cancer ISO RGD:1323553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1311872 Twf1 twinfilin actin-binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1323555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 1311872 Twf1 twinfilin actin-binding protein 1 gene DOID:630 genetic disease ISO RGD:1323555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1606201 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:28492532 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:7240710 20200619 OMIM 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 PMID:15452313|PMID:24591628|PMID:25227914|PMID:25741868|PMID:27882542|PMID:28492532|PMID:30382595 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:7240710 20130221 OMIM 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:16582901|PMID:18187424|PMID:20004786|PMID:23447534|PMID:23613525|PMID:24033266|PMID:25227914|PMID:25741868|PMID:26070885|PMID:26138675|PMID:26576490|PMID:27063589|PMID:27066545|PMID:28058752|PMID:28492532|PMID:29155098|PMID:29184031|PMID:30382595|PMID:31036819|PMID:33361160|PMID:7531512|PMID:7798233|PMID:8814256 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:10763 hypertension ISO RGD:1606201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:422 congenital structural myopathy ISO RGD:1606201 D RGD:11554173 20190129 CTD CTD Direct Evidence: marker/mechanism 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:630 genetic disease ISO RGD:1606201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311873 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1606201 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 1311874 Rec114 REC114 meiotic recombination protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2307386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1311874 Rec114 REC114 meiotic recombination protein gene DOID:2717 Bloom syndrome ISO RGD:2307386 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311874 Rec114 REC114 meiotic recombination protein gene DOID:3320 Tay-Sachs disease ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1311874 Rec114 REC114 meiotic recombination protein gene DOID:5419 schizophrenia ISO RGD:2307386 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311874 Rec114 REC114 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:2307386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311874 Rec114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:7240710 20210303 OMIM 1311874 Rec114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 10 PMID:31704776 1311874 Rec114 REC114 meiotic recombination protein gene DOID:9256 colorectal cancer ISO RGD:2307386 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311875 Cdc25c cell division cycle 25C gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323559 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1311875 Cdc25c cell division cycle 25C gene DOID:0080365 endometrial hyperplasia ISO RGD:1323559 D RGD:4105452|PMID:12931023 20100706 RGD 1311875 Cdc25c cell division cycle 25C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311875 Cdc25c cell division cycle 25C gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1311875 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:2756028|PMID:17460776 20100702 RGD 1311875 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:2774210|PMID:16140946 20100702 RGD 1311875 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:2776427|PMID:16000564 20100702 RGD mRNA, protein:alternative form, increased expression, increased activity:prostate gland 1311875 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:4105453|PMID:12896904 20100706 RGD 1311875 Cdc25c cell division cycle 25C gene DOID:1380 endometrial cancer ISO RGD:1323559 D RGD:4105455|PMID:12124347 20100706 RGD DNA:mutation (human) 1311875 Cdc25c cell division cycle 25C gene DOID:1612 breast cancer ISO RGD:1323559 D RGD:4105448|PMID:15567944 20100706 RGD protein:increased expression:breast 1311875 Cdc25c cell division cycle 25C gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1323559 D RGD:2729590|PMID:20500813 20100702 RGD protein:increased expression:vulva 1311875 Cdc25c cell division cycle 25C gene DOID:4362 cervical cancer ISO RGD:1323559 D RGD:4105450|PMID:15289842 20100706 RGD 1311875 Cdc25c cell division cycle 25C gene DOID:630 genetic disease ISO RGD:1323559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311875 Cdc25c cell division cycle 25C gene DOID:684 hepatocellular carcinoma ISO RGD:1323559 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311875 Cdc25c cell division cycle 25C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323559 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311875 Cdc25c cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1311875 Cdc25c cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311877 Gbp1 guanylate binding protein 1 gene DOID:630 genetic disease ISO RGD:1323562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311877 Gbp1 guanylate binding protein 1 gene DOID:9001488 Human Influenza ISO RGD:1323562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1311878 Actr8 actin related protein 8 gene DOID:630 genetic disease ISO RGD:1323563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311879 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323565 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1311879 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1311879 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1323565 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:25741868 1311879 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:1059 intellectual disability ISO RGD:1323565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1311879 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:630 genetic disease ISO RGD:1323565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311879 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323565 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311881 Slc38a9 solute carrier family 38, member 9 gene DOID:630 genetic disease ISO RGD:1604225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311881 Slc38a9 solute carrier family 38, member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604225 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311881 Slc38a9 solute carrier family 38, member 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1604225 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1311882 Epx eosinophil peroxidase gene DOID:0050777 Joubert syndrome ISO RGD:1323569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311882 Epx eosinophil peroxidase gene DOID:1059 intellectual disability ISO RGD:1323569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311882 Epx eosinophil peroxidase gene DOID:2841 asthma ISO RGD:1323569 D RGD:11574908|PMID:26645423 20180221 RGD protein:increased activity:sputum,nasal,pharyngeal mucosa 1311882 Epx eosinophil peroxidase gene DOID:2841 asthma disease_progression ISO RGD:1323569 D RGD:13506891|PMID:20813885 20180221 RGD 1311882 Epx eosinophil peroxidase gene DOID:2841 asthma severity ISO RGD:1323569 D RGD:13506892|PMID:12199967 20180221 RGD 1311882 Epx eosinophil peroxidase gene DOID:630 genetic disease ISO RGD:1323569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311882 Epx eosinophil peroxidase gene DOID:9000406 Eosinophilic Asthma treatment ISO RGD:1323569 D RGD:13506890|PMID:28751233 20180221 RGD 1311882 Epx eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:7240710 20141015 OMIM 1311882 Epx eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eosinophil peroxidase deficiency PMID:11241847|PMID:25741868|PMID:28492532|PMID:7809065 1311882 Epx eosinophil peroxidase gene DOID:9415 allergic asthma ISO RGD:1323569 D RGD:13506893|PMID:11846868 20180221 RGD protein:increased expression:urine: 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:0050581 brachydactyly ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:11112658|PMID:18946009|PMID:24502542|PMID:25741868|PMID:25792522|PMID:28468609|PMID:28492532|PMID:30541476 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080006 bone development disease ISO RGD:1323571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19759027 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080205 CAKUT ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11112658|PMID:11950061|PMID:18946009|PMID:24502542|PMID:25792522|PMID:28492532|PMID:30143558|PMID:30541476 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:7240710 20130221 OMIM 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III PMID:10615131|PMID:11112658|PMID:11807863|PMID:11950061|PMID:14560312|PMID:15367484|PMID:16199547|PMID:17576681|PMID:17854380|PMID:18946009|PMID:19694891|PMID:20394624|PMID:21850686|PMID:22964620|PMID:23293878|PMID:23451857|PMID:23572024|PMID:23621477|PMID:23691375|PMID:24357341|PMID:24502542|PMID:24945424|PMID:25741868|PMID:25792522|PMID:26113321|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:29499646|PMID:30143558|PMID:30458885|PMID:30541476|PMID:30914275|PMID:31884116|PMID:32844440|PMID:9536098 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:10907 microcephaly ISO RGD:1323571 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:7240710 20130221 OMIM 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:10615131|PMID:11112658|PMID:11359471|PMID:11807863|PMID:11950061|PMID:14560312|PMID:17854380|PMID:18946009|PMID:19694891|PMID:22964620|PMID:23451857|PMID:23621477|PMID:24357341|PMID:24502542|PMID:25741868|PMID:25792522|PMID:26380986|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:30143558|PMID:30541476|PMID:30914275|PMID:31884116 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1323571 D RGD:1599670|PMID:10615131 20070212 RGD trichorhinophalangeal syndrome type I, OMIM:190350 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:305 carcinoma ISO RGD:1323571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1323571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11708946 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:630 genetic disease ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25792522|PMID:26113321|PMID:28004029|PMID:28492532 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:9005517 Trichorhinophalangeal Syndrome ISO RGD:1323571 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type I or III PMID:25333908|PMID:25741868|PMID:28492532|PMID:29095814 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323571 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 1311883 Trps1 transcriptional repressor GATA binding 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11708946|PMID:19759027 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1323573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1323573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9000352 Vascular System Injuries IEP D RGD:11049588|PMID:15217908 20160411 RGD 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9002514 Neointima ISO RGD:1323574 D RGD:11049552|PMID:23657573 20160408 RGD associated with Vascular System Injuries 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9004657 Weight Gain ISO RGD:1323573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323573 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 1311884 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9256 colorectal cancer ISO RGD:1323573 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311885 Hsfy2 heat shock transcription factor, Y linked 2 gene DOID:12849 autistic disorder ISO RGD:1348679 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311886 Kif22 kinesin family member 22 gene DOID:0060019 coronin-1A deficiency ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1311886 Kif22 kinesin family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1323577 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1311886 Kif22 kinesin family member 22 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1323577 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1311886 Kif22 kinesin family member 22 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1323577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1311886 Kif22 kinesin family member 22 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1311886 Kif22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:7240710 20141015 OMIM 1311886 Kif22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532|PMID:32860008 1311886 Kif22 kinesin family member 22 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1323577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1311886 Kif22 kinesin family member 22 gene DOID:12849 autistic disorder ISO RGD:1323577 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311886 Kif22 kinesin family member 22 gene DOID:1882 atrial heart septal defect ISO RGD:1323577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1311886 Kif22 kinesin family member 22 gene DOID:5419 schizophrenia ISO RGD:1323577 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311886 Kif22 kinesin family member 22 gene DOID:630 genetic disease ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28166811|PMID:28492532|PMID:32860008 1311886 Kif22 kinesin family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323577 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311886 Kif22 kinesin family member 22 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1311886 Kif22 kinesin family member 22 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1323577 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1311887 Ctif cap binding complex dependent translation initiation factor gene DOID:1059 intellectual disability ISO RGD:1350648 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311887 Ctif cap binding complex dependent translation initiation factor gene DOID:630 genetic disease ISO RGD:1350648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311888 Bivm basic, immunoglobulin-like variable motif containing gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 1311888 Bivm basic, immunoglobulin-like variable motif containing gene DOID:14701 propionic acidemia ISO RGD:1323580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1311888 Bivm basic, immunoglobulin-like variable motif containing gene DOID:630 genetic disease ISO RGD:1323580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311888 Bivm basic, immunoglobulin-like variable motif containing gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323580 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1311888 Bivm basic, immunoglobulin-like variable motif containing gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1323582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:0080600 COVID-19 ISO RGD:1323582 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:12849 autistic disorder ISO RGD:1323582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:14330 Parkinson's disease ISO RGD:1323582 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:27957685 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:224 transient cerebral ischemia IEP D RGD:10003026|PMID:16777714 20150429 RGD mRNA:increased expression:cerebral cortex 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:3312 bipolar disorder ISO RGD:1323582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:630 genetic disease ISO RGD:1323582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:9000998 Brain Injuries IEP D RGD:9999437|PMID:20309649 20150420 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323582 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1558477 D RGD:9999438|PMID:24569808 20150420 RGD 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:9263 homocystinuria ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1311889 Trpm2 transient receptor potential cation channel, subfamily M, member 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311890 Zfr zinc finger RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1323583 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311890 Zfr zinc finger RNA binding protein gene DOID:2476 hereditary spastic paraplegia ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1311890 Zfr zinc finger RNA binding protein gene DOID:630 genetic disease ISO RGD:1323583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311890 Zfr zinc finger RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323583 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311890 Zfr zinc finger RNA binding protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323583 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 1311890 Zfr zinc finger RNA binding protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323583 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 1311892 Inava innate immunity activator gene DOID:0050589 inflammatory bowel disease ISO RGD:1601862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 1311892 Inava innate immunity activator gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1601862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1311892 Inava innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:7240710 20200311 OMIM 1311892 Inava innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 29 PMID:21983784|PMID:25741868|PMID:29420262 1311892 Inava innate immunity activator gene DOID:1540 parathyroid carcinoma ISO RGD:1601862 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311892 Inava innate immunity activator gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1601862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1311892 Inava innate immunity activator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601862 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311893 Rsph10b radial spoke head 10 homolog B gene DOID:0070271 Lynch syndrome 1 ISO RGD:1605260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 1311893 Rsph10b radial spoke head 10 homolog B gene DOID:3883 Lynch syndrome ISO RGD:1605260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 1311893 Rsph10b radial spoke head 10 homolog B gene DOID:630 genetic disease ISO RGD:1605260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311894 Tpx2 TPX2, microtubule nucleation factor gene DOID:0080600 COVID-19 ISO RGD:1323589 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311894 Tpx2 TPX2, microtubule nucleation factor gene DOID:630 genetic disease ISO RGD:1323589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311894 Tpx2 TPX2, microtubule nucleation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1323589 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1311896 Ly6h lymphocyte antigen 6 family member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1311896 Ly6h lymphocyte antigen 6 family member H gene DOID:4621 holoprosencephaly ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1311896 Ly6h lymphocyte antigen 6 family member H gene DOID:630 genetic disease ISO RGD:1323593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311897 Lrrc3b leucine rich repeat containing 3B gene DOID:630 genetic disease ISO RGD:1345434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311897 Lrrc3b leucine rich repeat containing 3B gene DOID:9000217 Stomach Neoplasms ISO RGD:1345434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18757430 1311897 Lrrc3b leucine rich repeat containing 3B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18815942 1311897 Lrrc3b leucine rich repeat containing 3B gene DOID:9008939 Breast Neoplasms ISO RGD:1345434 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1311898 B3galt1 Beta-1,3-galactosyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1323596 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1311898 B3galt1 Beta-1,3-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:35328643|PMID:35673428|PMID:9626139 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10333057|PMID:10482964|PMID:10588527|PMID:12488962|PMID:12530534|PMID:23348805|PMID:24728327|PMID:25057215|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:35299962|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9562352|PMID:9626139 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:11714 gestational diabetes ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:2394 ovarian cancer ISO RGD:1603965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:32238361 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:630 genetic disease ISO RGD:1603965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:1603965 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:9351 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10333057|PMID:10482964|PMID:12488962|PMID:12530534|PMID:24728327|PMID:25414397|PMID:25741868|PMID:26287533|PMID:30561130|PMID:31517624|PMID:32395877|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 1311899 C12h12orf43 similar to human chromosome 12 open reading frame 43 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 1311900 Mfsd10 major facilitator superfamily domain containing 10 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604055 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1311900 Mfsd10 major facilitator superfamily domain containing 10 gene DOID:1856 cherubism ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1311900 Mfsd10 major facilitator superfamily domain containing 10 gene DOID:630 genetic disease ISO RGD:1604055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311901 Rhbdl3 rhomboid like 3 gene DOID:630 genetic disease ISO RGD:1352464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311903 Vgll2 vestigial-like family member 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1323604 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1311903 Vgll2 vestigial-like family member 2 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1311903 Vgll2 vestigial-like family member 2 gene DOID:1059 intellectual disability ISO RGD:1323604 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1311903 Vgll2 vestigial-like family member 2 gene DOID:10907 microcephaly ISO RGD:1323604 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1311903 Vgll2 vestigial-like family member 2 gene DOID:1826 epilepsy ISO RGD:1323604 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311903 Vgll2 vestigial-like family member 2 gene DOID:1909 melanoma ISO RGD:1323604 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1311903 Vgll2 vestigial-like family member 2 gene DOID:630 genetic disease ISO RGD:1323604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311903 Vgll2 vestigial-like family member 2 gene DOID:9000495 Tremor ISO RGD:1323604 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1311904 Chsy1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:7240710 20141015 OMIM 1311904 Chsy1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome PMID:19952732|PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9823490 1311904 Chsy1 chondroitin sulfate synthase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1323606 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1311904 Chsy1 chondroitin sulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1323606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532 1311904 Chsy1 chondroitin sulfate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311904 Chsy1 chondroitin sulfate synthase 1 gene DOID:9004538 Hearing Loss ISO RGD:1323606 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 1311906 Fcgbpl1 Fc fragment of IgG binding protein-like 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5490977|PMID:20973890 20120321 RGD 1311907 Selenoo selenoprotein O gene DOID:0060041 autism spectrum disorder ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1311907 Selenoo selenoprotein O gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1605929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1311907 Selenoo selenoprotein O gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1605929 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1311907 Selenoo selenoprotein O gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1605929 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1311907 Selenoo selenoprotein O gene DOID:10581 metachromatic leukodystrophy ISO RGD:1605929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1311907 Selenoo selenoprotein O gene DOID:1059 intellectual disability ISO RGD:1605929 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311907 Selenoo selenoprotein O gene DOID:630 genetic disease ISO RGD:1605929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311908 Umps uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:7240710 20130221 OMIM 1311908 Umps uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532|PMID:9042911 1311908 Umps uridine monophosphate synthetase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1311908 Umps uridine monophosphate synthetase gene DOID:0080916 erythroleukemia ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1311908 Umps uridine monophosphate synthetase gene DOID:10923 sickle cell anemia ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1311908 Umps uridine monophosphate synthetase gene DOID:12241 beta thalassemia ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1311908 Umps uridine monophosphate synthetase gene DOID:12971 hereditary spherocytosis ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1311908 Umps uridine monophosphate synthetase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1311908 Umps uridine monophosphate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 1311908 Umps uridine monophosphate synthetase gene DOID:630 genetic disease ISO RGD:1323612 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311908 Umps uridine monophosphate synthetase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1323612 D RGD:1599702|PMID:9042911 20070213 RGD orotic aciduria 1311908 Umps uridine monophosphate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 1311908 Umps uridine monophosphate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16912530|PMID:17089033|PMID:18652704 1311908 Umps uridine monophosphate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15999119|PMID:19082440 1311908 Umps uridine monophosphate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 1311908 Umps uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5132278|PMID:3907307 20110524 RGD protein:decreased activity:liver (rat) 1311908 Umps uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5132591|PMID:1476792 20110526 RGD protein:decreased activity:mammary gland (rat) 1311908 Umps uridine monophosphate synthetase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 1311908 Umps uridine monophosphate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323612 D RGD:152995291|PMID:28347776 20220614 RGD DNA:SNP:cds:rs2279199|rs4678145 (human) 1311908 Umps uridine monophosphate synthetase gene DOID:9007364 Mouth Neoplasms ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 1311908 Umps uridine monophosphate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641|PMID:19020767 1311908 Umps uridine monophosphate synthetase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323612 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1311908 Umps uridine monophosphate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:1323612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19020767|PMID:19151563 1311908 Umps uridine monophosphate synthetase gene DOID:9270 alkaptonuria ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311909 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1311909 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:630 genetic disease ISO RGD:1349742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311909 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1311909 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:9270 alkaptonuria ISO RGD:1349742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1311910 Rbfa ribosome binding factor A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1311910 Rbfa ribosome binding factor A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323615 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1311910 Rbfa ribosome binding factor A gene DOID:630 genetic disease ISO RGD:1323615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311910 Rbfa ribosome binding factor A gene DOID:6420 pulmonary valve stenosis ISO RGD:1323615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1311910 Rbfa ribosome binding factor A gene DOID:8445 intestinal volvulus ISO RGD:1323615 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1311910 Rbfa ribosome binding factor A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1311910 Rbfa ribosome binding factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323615 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311910 Rbfa ribosome binding factor A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323615 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1311911 Hhatl hedgehog acyltransferase-like gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1344894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1311911 Hhatl hedgehog acyltransferase-like gene DOID:630 genetic disease ISO RGD:1344894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311912 Ccdc59 coiled-coil domain containing 59 gene DOID:630 genetic disease ISO RGD:1606017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311914 Slc25a38 solute carrier family 25, member 38 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1606272 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:28492532 1311914 Slc25a38 solute carrier family 25, member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:7240710 20130221 OMIM 1311914 Slc25a38 solute carrier family 25, member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive PMID:19412178|PMID:21393332|PMID:24323989|PMID:25326635|PMID:25512395|PMID:25741868|PMID:25985931|PMID:26636621|PMID:28492532|PMID:28772256|PMID:29499877|PMID:29786897|PMID:30214775|PMID:30735661|PMID:31338833|PMID:31642437|PMID:32605921|PMID:32790119|PMID:33256393|PMID:34298585 1311914 Slc25a38 solute carrier family 25, member 38 gene DOID:630 genetic disease ISO RGD:1606272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311914 Slc25a38 solute carrier family 25, member 38 gene DOID:8955 sideroblastic anemia ISO RGD:1606272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19412178 1311915 Flnb filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:7240710 20130221 OMIM 1311915 Flnb filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Boomerang dysplasia PMID:12955767|PMID:14991055|PMID:17510210|PMID:25741868|PMID:28492532 1311915 Flnb filamin B gene DOID:0060564 spinal disease ISO RGD:1323621 D RGD:1601168|PMID:14991055 20070410 RGD spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X 1311915 Flnb filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:1601168|PMID:14991055 20070410 RGD Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C 1311915 Flnb filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:1601170|PMID:15994868 20070410 RGD boomerang dysplasia,OMIM:112310;DNA:point mutation:exon:L171R,S235P 1311915 Flnb filamin B gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1323621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:16752402|PMID:20301736|PMID:22190451|PMID:25741868 1311915 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991055 1311915 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:7240710 20130221 OMIM 1311915 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:14991055|PMID:18257094|PMID:18322662|PMID:18386804|PMID:20301736|PMID:25741868|PMID:26380986|PMID:28492532|PMID:29566257 1311915 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323622 D RGD:12791028|PMID:17635842 20170228 RGD 1311915 Flnb filamin B gene DOID:11836 clubfoot ISO RGD:1323621 D RGD:12791025|PMID:27395407 20170228 RGD DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) 1311915 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991055 1311915 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:7240710 20130221 OMIM 1311915 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:20301736|PMID:21620354|PMID:22190451|PMID:24123776|PMID:25741868|PMID:26380986|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:32369273|PMID:9536098 1311915 Flnb filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:12791027|PMID:16752402 20170228 RGD DNA:missense, deletion mutations:exons: 1311915 Flnb filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:1601168|PMID:14991055 20070410 RGD atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V 1311915 Flnb filamin B gene DOID:630 genetic disease ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1311915 Flnb filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1311915 Flnb filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 1311915 Flnb filamin B gene DOID:674 cleft palate susceptibility ISO RGD:1323621 D RGD:12791026|PMID:20634891 20170228 RGD DNA:SNPs:: 1311915 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991055 1311915 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:7240710 20130221 OMIM 1311915 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type I PMID:14991055|PMID:16752402|PMID:20301736|PMID:22190451|PMID:24624349|PMID:25741868|PMID:28492532 1311915 Flnb filamin B gene DOID:9004353 Larsen Syndromes ISO RGD:1323621 D RGD:12791029|PMID:16801345 20170228 RGD DNA:deletion, missense mutations:cds: 1311915 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991055 1311915 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:7240710 20151217 OMIM 1311915 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type III PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 1311915 Flnb filamin B gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1323621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1311915 Flnb filamin B gene DOID:9004979 Knee Dislocation ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knee dislocation PMID:25741868|PMID:28492532|PMID:31836586 1311915 Flnb filamin B gene DOID:9007661 Dwarfism ISO RGD:1323621 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Short stature 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:7240710 20140911 OMIM 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 PMID:12548288|PMID:15296495|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1323623 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1059 intellectual disability ISO RGD:1323623 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1062 Fanconi syndrome ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24033266|PMID:25741868|PMID:28492532 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2223 platelet storage pool deficiency ISS RGD:1323624 D RGD:13592920 20180518 MouseDO OMIM:185050 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1323623 D RGD:11072072|PMID:15296495 20160728 RGD DNA:mutations:multiple: 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1323623 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:23607980|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28492532|PMID:28640947|PMID:31064749 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:630 genetic disease ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1311916 Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 1311919 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:1059 intellectual disability ISO RGD:1323627 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311919 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:9428816|PMID:27572315 1311919 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:1599184|PMID:7951320 20070118 RGD 1311919 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1323627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311920 Aftph aftiphilin gene DOID:630 genetic disease ISO RGD:1606558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050651 atrioventricular septal defect ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:11067078|PMID:22033296 20160919 RGD 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:11535040|PMID:18445044 20160919 RGD DNA:missense mutations:exon:p.Q1214R (c.3641A>G), p.L1302P (c.3905T>C), p.V1742D (c.5225T>A) (human) 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:11535041|PMID:20624498 20160919 RGD DNA:missense mutation, SNP:exon, 5' utr:p.L979P (c.2936T>C), c.-66C>T (human) 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:11535050|PMID:18073582 20160920 RGD DNA:missense mutations: :p.W983G, p.D1596G, p.R2319C (human) 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:11535051|PMID:23333604 20160920 RGD DNA:missense mutations: :p.C1588W (c.4764T>G), (p.D1825N (c.5473G>A) (human) 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16615981|PMID:21532573 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:7240710 20130221 OMIM 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16169932|PMID:16199547|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17253929|PMID:17299439|PMID:17334995|PMID:17576681|PMID:17661815|PMID:17684005|PMID:17937444|PMID:18073582|PMID:18074359|PMID:18089695|PMID:18413373|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18505430|PMID:18834967|PMID:18978652|PMID:19021638|PMID:19112063|PMID:19763152|PMID:19772954|PMID:20130577|PMID:20186815|PMID:20301296|PMID:20307669|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21041284|PMID:21158681|PMID:21196067|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21856375|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22035731|PMID:22258531|PMID:22399515|PMID:22406018|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:22902603|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23806086|PMID:23849776|PMID:23883829|PMID:23885230|PMID:23956205|PMID:24033266|PMID:24088041|PMID:24368733|PMID:24755471|PMID:24819706|PMID:24862881|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25326635|PMID:25326637|PMID:25383892|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26141714|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26666243|PMID:26785492|PMID:26813943|PMID:26929907|PMID:26986878|PMID:27061523|PMID:27562378|PMID:27832265|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28832562|PMID:28991257|PMID:29152903|PMID:29178447|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29355723|PMID:29419413|PMID:30029678|PMID:30293987|PMID:30311386|PMID:30653986|PMID:30733481|PMID:30828794|PMID:31019026|PMID:31042289|PMID:31043788|PMID:31130284|PMID:31146700|PMID:31289371|PMID:31395954|PMID:31501239|PMID:31564432|PMID:31689711|PMID:31729160|PMID:32185379|PMID:32804436|PMID:32851286|PMID:32870266|PMID:33184947|PMID:33502061|PMID:7651832|PMID:9536098 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1616427 D RGD:11535032|PMID:24840056 20160919 RGD DNA:nonsense mutation:exon:p.S1897X (c.5690C>A) (mouse) 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1616427 D RGD:11535048|PMID:16207732 20160920 RGD DNA:nonsense mutations, splice-site mutations: :multiple 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060225 3MC syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome PMID:21554267|PMID:28492532 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060249 scoliosis ISO RGD:1323630 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 PMID:17436250|PMID:23883829|PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:7240710 20180103 OMIM 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:15300250|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17576681|PMID:18073582|PMID:18074359|PMID:18414213|PMID:18445044|PMID:18834967|PMID:21158681|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22539353|PMID:23378218|PMID:23533228|PMID:23885230|PMID:24033266|PMID:24862881|PMID:25077900|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26467025|PMID:26929907|PMID:27884173|PMID:27899157|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29419413|PMID:30311386|PMID:31042289|PMID:32870266|PMID:9536098 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1059 intellectual disability ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25472840|PMID:25741868|PMID:28492532|PMID:30029678 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:10907 microcephaly ISO RGD:1323630 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:11830 myopia ISO RGD:1323630 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:13938 amenorrhea ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:18414213|PMID:21158681|PMID:22539353|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:32870266 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:14448 46,XY sex reversal ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868|PMID:33189935 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1459 hypothyroidism ISO RGD:1323630 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1882 atrial heart septal defect ISO RGD:1323630 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1921 Klinefelter syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:3614 Kallmann syndrome ISO RGD:1323630 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:3614 Kallmann syndrome ISO RGD:1323630 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:18414213|PMID:18445044|PMID:21158681|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:28475860|PMID:28492532|PMID:29304373 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1323630 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:31042289 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:30311386|PMID:31042289|PMID:32870266|PMID:7651832|PMID:9326634|PMID:9536098 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24368733|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30311386|PMID:30653986|PMID:31042289|PMID:31395954|PMID:31564432|PMID:31689711|PMID:32185379|PMID:32870266|PMID:35047002|PMID:7651832|PMID:9326634|PMID:9536098 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1323630 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1323630 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323630 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9003232 Kallmann Syndrome 5 ISO RGD:1323630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kallmann syndrome 5 PMID:17576681|PMID:18834967|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:9536098 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1323630 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1323630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:17576681|PMID:17661815|PMID:18834967|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:9536098 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323630 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004538 Hearing Loss ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1311921 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9008582 Developmental Disease ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311922 Ttll6 tubulin tyrosine ligase like 6 gene DOID:630 genetic disease ISO RGD:1605245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:1059 intellectual disability ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1349317 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1349317 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:1826 epilepsy ISO RGD:1349317 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:4905 pancreatic carcinoma disease_progression IEP D RGD:9587766|PMID:21472101 20141017 RGD protein:increased expression:pancreas 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1349317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15988005|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695|PMID:32483341|PMID:35346573|PMID:8871545|PMID:9688266 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:8541 Sezary's disease ISO RGD:1349317 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:7240710 20190329 OMIM 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:31048695|PMID:32483341|PMID:35346573 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349317 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349317 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30397230 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349317 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349317 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30397230 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30397230 1311923 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1311925 Mcrip1 MAPK regulated co-repressor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1603840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311926 Med19 mediator complex subunit 19 gene DOID:1059 intellectual disability ISO RGD:1344644 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1311926 Med19 mediator complex subunit 19 gene DOID:630 genetic disease ISO RGD:1344644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311927 Anapc7 anaphase promoting complex subunit 7 gene DOID:0050888 syndromic intellectual disability ISS RGD:1323638 D RGD:13592920 20220324 MouseDO 1311927 Anapc7 anaphase promoting complex subunit 7 gene DOID:630 genetic disease ISO RGD:1344930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311927 Anapc7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:7240710 20220316 OMIM 1311927 Anapc7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome PMID:25741868|PMID:34942119 1311928 Slc1a7 solute carrier family 1 member 7 gene DOID:0080600 COVID-19 ISO RGD:1323639 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311928 Slc1a7 solute carrier family 1 member 7 gene DOID:630 genetic disease ISO RGD:1323639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311929 Ccdc43 coiled-coil domain containing 43 gene DOID:630 genetic disease ISO RGD:1606980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311930 Cmahp cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene gene DOID:2377 multiple sclerosis ISO RGD:1352628 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1311931 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension ISO RGD:1323642 D RGD:11528851|PMID:26627607 20191107 RGD protein:increased expression:mesentary 1311931 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension treatment ISO RGD:1323643 D RGD:11528851|PMID:26627607 20191107 RGD 1311931 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1323642 D RGD:11528851|PMID:26627607 20191107 RGD protein:increased expression:liver 1311931 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:5082 liver cirrhosis ISO RGD:1323642 D RGD:11528851|PMID:26627607 20191107 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver 1311931 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:630 genetic disease ISO RGD:1323642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311932 Dynlt5 dynein light chain Tctex-type family member 5 gene DOID:1059 intellectual disability ISO RGD:1603544 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1311932 Dynlt5 dynein light chain Tctex-type family member 5 gene DOID:630 genetic disease ISO RGD:1603544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311933 Leg1 liver enriched gene 1 gene DOID:630 genetic disease ISO RGD:1350193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311934 Gkn2 gastrokine 2 gene DOID:630 genetic disease ISO RGD:1606131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:0060041 autism spectrum disorder ISO RGD:1323647 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1323647 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:0080205 CAKUT ISO RGD:1323647 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:0110231 cataract 1 multiple types ISO RGD:1323647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:1227 neutropenia ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323647 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:1540 parathyroid carcinoma ISO RGD:1323647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:18 urinary system disease ISO RGD:1323647 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormality of the urinary system 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:303 substance-related disorder ISO RGD:1323647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:5419 schizophrenia ISO RGD:1323647 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323647 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:630 genetic disease ISO RGD:1323647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323647 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:9007661 Dwarfism ISO RGD:1323647 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1311935 Chd1l chromodomain helicase DNA binding protein 1-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323647 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311936 Rnf20 ring finger protein 20 gene DOID:1059 intellectual disability ISO RGD:1323649 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: intellectual disabilities 1311936 Rnf20 ring finger protein 20 gene DOID:1612 breast cancer ISO RGD:1323649 D RGD:9831404|PMID:18832071 20150305 RGD DNA:hypermethylation:promoter (human) 1311936 Rnf20 ring finger protein 20 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 1311936 Rnf20 ring finger protein 20 gene DOID:630 genetic disease ISO RGD:1323649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311936 Rnf20 ring finger protein 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323649 D RGD:9831407|PMID:21136906 20150305 RGD protein:increased expression:urine (human) 1311936 Rnf20 ring finger protein 20 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 1311936 Rnf20 ring finger protein 20 gene DOID:9953 acute biphenotypic leukemia disease_progression ISO RGD:1323650 D RGD:9831405|PMID:23412334 20150305 RGD 1311937 Tmem125 transmembrane protein 125 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604757 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1311937 Tmem125 transmembrane protein 125 gene DOID:630 genetic disease ISO RGD:1604757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311938 Bap1 Brca1 associated protein 1 gene DOID:0050773 paraganglioma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:0050902 medulloblastoma ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:24970262|PMID:25741868|PMID:26719535|PMID:28492532|PMID:29641532|PMID:32068069 1311938 Bap1 Brca1 associated protein 1 gene DOID:0050908 myelodysplastic syndrome ISS RGD:1323653 D RGD:13592920 20180518 MouseDO OMIM:614286 1311938 Bap1 Brca1 associated protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323652 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:21642991|PMID:24894717|PMID:26166446|PMID:26452128 1311938 Bap1 Brca1 associated protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1323652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1311938 Bap1 Brca1 associated protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:1240 leukemia ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:169 neuroendocrine tumor ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323652 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:24928783|PMID:25231345|PMID:26463840|PMID:26928227|PMID:29112861 1311938 Bap1 Brca1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323653 D RGD:9586039|PMID:24928783 20140925 RGD 1311938 Bap1 Brca1 associated protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9586038|PMID:25080371 20140925 RGD 1311938 Bap1 Brca1 associated protein 1 gene DOID:3070 high grade glioma ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 1311938 Bap1 Brca1 associated protein 1 gene DOID:3275 thymoma ISO RGD:1323652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 1311938 Bap1 Brca1 associated protein 1 gene DOID:3315 lipoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1323652 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1323652 D RGD:150340631|PMID:25536104 20210824 RGD 1311938 Bap1 Brca1 associated protein 1 gene DOID:3565 meningioma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323652 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:22683710|PMID:23797736|PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532|PMID:35483881|PMID:35992853 1311938 Bap1 Brca1 associated protein 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1323652 D RGD:150340628|PMID:27864835 20210823 RGD 1311938 Bap1 Brca1 associated protein 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:5078 ganglioglioma ISO RGD:1323652 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:25741868|PMID:28492532 1311938 Bap1 Brca1 associated protein 1 gene DOID:6039 uveal melanoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:21874000|PMID:25231345|PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:6039 uveal melanoma ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma PMID:21874000|PMID:23032617|PMID:23684012|PMID:25687217|PMID:25741868|PMID:26556299|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28793149|PMID:30477459|PMID:31186267|PMID:32002398 1311938 Bap1 Brca1 associated protein 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:1323652 D RGD:9586037|PMID:25147369 20140925 RGD mRNA,protein:decreased expression: : 1311938 Bap1 Brca1 associated protein 1 gene DOID:6039 uveal melanoma susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 1311938 Bap1 Brca1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311938 Bap1 Brca1 associated protein 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1323652 D RGD:127229946|PMID:27422796 20210604 RGD 1311938 Bap1 Brca1 associated protein 1 gene DOID:8923 skin melanoma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:24928783 1311938 Bap1 Brca1 associated protein 1 gene DOID:9001326 Nevus, Epithelioid and Spindle Cell ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28213671|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35051358|PMID:35483881|PMID:35992853|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 1311938 Bap1 Brca1 associated protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9003566 Mesothelioma ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:21642991|PMID:21874000|PMID:26119930|PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9004389 Bone Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28213671|PMID:28492532|PMID:35051358 1311938 Bap1 Brca1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kury-Isidor syndrome PMID:16341802|PMID:19197335|PMID:24970262|PMID:25741868|PMID:25974357|PMID:26467025|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28551647|PMID:29641532|PMID:31034483|PMID:32068069|PMID:35051358 1311938 Bap1 Brca1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME susceptibility ISO RGD:1323652 D RGD:7240710 20230517 OMIM 1311938 Bap1 Brca1 associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:9005825 Nevi and Melanomas ISO RGD:1323652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21874003 1311938 Bap1 Brca1 associated protein 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32068069|PMID:32649346|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32002398|PMID:32068069|PMID:32649346|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29368341|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35483881|PMID:35992853|PMID:9536098 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1323652 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 1311938 Bap1 Brca1 associated protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323652 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 1311938 Bap1 Brca1 associated protein 1 gene DOID:9538 multiple myeloma ISO RGD:1323652 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1311939 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:3883 Lynch syndrome ISO RGD:1605897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1311939 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:630 genetic disease ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19097194|PMID:28492532|PMID:30478137|PMID:36896672 1311939 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:7240710 20200819 OMIM 1311939 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features PMID:16199547|PMID:19097194|PMID:25741868|PMID:28492532|PMID:30478137|PMID:36896672 1311939 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605897 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323655 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323655 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:630 genetic disease ISO RGD:1323655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:7240710 20170405 OMIM 1311940 Slc17a9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type PMID:25180256|PMID:25741868 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:1059 intellectual disability ISO RGD:1323657 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:10907 microcephaly ISO RGD:1323657 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:12849 autistic disorder ISO RGD:1323657 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:1826 epilepsy ISO RGD:1323657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:1909 melanoma ISO RGD:1323657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:630 genetic disease ISO RGD:1323657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311941 Asf1a anti-silencing function 1A histone chaperone gene DOID:9000495 Tremor ISO RGD:1323657 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1311942 Nup85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:7240710 20190315 OMIM 1311942 Nup85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 1311942 Nup85 nucleoporin 85 gene DOID:630 genetic disease ISO RGD:1323659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:0080006 bone development disease ISO RGD:1323660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 1311943 Nans N-acetylneuraminate synthase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:7240710 20190315 OMIM 1311943 Nans N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 1311943 Nans N-acetylneuraminate synthase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:1059 intellectual disability ISO RGD:1323660 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311943 Nans N-acetylneuraminate synthase gene DOID:12712 nephronophthisis ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:630 genetic disease ISO RGD:1323660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1323660 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1311943 Nans N-acetylneuraminate synthase gene DOID:9008086 Developmental Disabilities ISO RGD:1323660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 1311944 Itfg2 integrin alpha FG-GAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1603635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311944 Itfg2 integrin alpha FG-GAP repeat containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603635 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1311945 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1323663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1311945 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:630 genetic disease ISO RGD:1323663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311945 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1323663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1311945 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323663 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311946 RGD1311946 similar to RIKEN cDNA 1810055G02 gene DOID:1059 intellectual disability ISO RGD:1323665 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311946 RGD1311946 similar to RIKEN cDNA 1810055G02 gene DOID:630 genetic disease ISO RGD:1323665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311946 RGD1311946 similar to RIKEN cDNA 1810055G02 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311946 RGD1311946 similar to RIKEN cDNA 1810055G02 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311947 Npat nuclear protein, co-activator of histone transcription gene DOID:1059 intellectual disability ISO RGD:1323667 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311947 Npat nuclear protein, co-activator of histone transcription gene DOID:12704 ataxia telangiectasia ISO RGD:1323667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532|PMID:31671381 1311947 Npat nuclear protein, co-activator of histone transcription gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1323667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 1311947 Npat nuclear protein, co-activator of histone transcription gene DOID:630 genetic disease ISO RGD:1323667 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311947 Npat nuclear protein, co-activator of histone transcription gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323667 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1311948 Cramp1 cramped chromatin regulator homolog 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1311948 Cramp1 cramped chromatin regulator homolog 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1311948 Cramp1 cramped chromatin regulator homolog 1 gene DOID:1826 epilepsy ISO RGD:1323669 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1311948 Cramp1 cramped chromatin regulator homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323669 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1311948 Cramp1 cramped chromatin regulator homolog 1 gene DOID:630 genetic disease ISO RGD:1323669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311949 Pcdhga5 protocadherin gamma subfamily A, 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323670 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1311949 Pcdhga5 protocadherin gamma subfamily A, 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311949 Pcdhga5 protocadherin gamma subfamily A, 5 gene DOID:630 genetic disease ISO RGD:1323670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311949 Pcdhga5 protocadherin gamma subfamily A, 5 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1323670 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1311949 Pcdhga5 protocadherin gamma subfamily A, 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323670 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311949 Pcdhga5 protocadherin gamma subfamily A, 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311950 Fads6 fatty acid desaturase 6 gene DOID:630 genetic disease ISO RGD:1351054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311951 Sphkap SPHK1 interactor, AKAP domain containing gene DOID:6000 congestive heart failure ISO RGD:1604287 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1311951 Sphkap SPHK1 interactor, AKAP domain containing gene DOID:630 genetic disease ISO RGD:1604287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311952 Fam217b family with sequence similarity 217, member B gene DOID:630 genetic disease ISO RGD:1323673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311953 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1311953 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1311953 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:630 genetic disease ISO RGD:1323674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311953 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:9001488 Human Influenza ISO RGD:1323674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1311953 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323674 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1311954 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348039 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 1311954 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:7240710 20130731 OMIM 1311954 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:17120046|PMID:17576681|PMID:18414213|PMID:21063731|PMID:22541559|PMID:22541562|PMID:22577224|PMID:25741868|PMID:28492532|PMID:32860008|PMID:33098347|PMID:9536098 1311954 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532|PMID:33098347 1311954 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17120046|PMID:18414213|PMID:22541559|PMID:25741868|PMID:28492532|PMID:33098347 1311954 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1348039 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 1311955 Fhdc1 FH2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311956 Trim59 tripartite motif-containing 59 gene DOID:630 genetic disease ISO RGD:1349912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311956 Trim59 tripartite motif-containing 59 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:0050645 arterial tortuosity syndrome ISS RGD:1323680 D RGD:13592920 20180518 MouseDO OMIM:208050 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1323679 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:20389311|PMID:21563328|PMID:25741868|PMID:28492532 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:20389311|PMID:21563328|PMID:28492532 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:1059 intellectual disability ISO RGD:1323679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:14323 Marfan syndrome ISS RGD:1323680 D RGD:13592920 20180518 MouseDO OMIM:154700 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:2746 glycogen storage disease V ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1323679 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1311957 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9675 pulmonary emphysema ISS RGD:1323680 D RGD:13592920 20180518 MouseDO OMIM:130700 1311958 Fam81a family with sequence similarity 81, member A gene DOID:2717 Bloom syndrome ISO RGD:1603268 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1311958 Fam81a family with sequence similarity 81, member A gene DOID:630 genetic disease ISO RGD:1603268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311958 Fam81a family with sequence similarity 81, member A gene DOID:9256 colorectal cancer ISO RGD:1603268 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1311959 Rab22a RAB22A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1323682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311960 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1311960 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:12849 autistic disorder ISO RGD:1346306 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311960 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346306 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311960 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:630 genetic disease ISO RGD:1346306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311960 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1311960 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346306 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311961 Hlx H2.0-like homeobox gene DOID:0050439 Usher syndrome ISO RGD:1323685 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1311961 Hlx H2.0-like homeobox gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1323685 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1311961 Hlx H2.0-like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1323685 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311961 Hlx H2.0-like homeobox gene DOID:630 genetic disease ISO RGD:1323685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311961 Hlx H2.0-like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323685 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311962 Pole2 DNA polymerase epsilon 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1323687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311962 Pole2 DNA polymerase epsilon 2, accessory subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323687 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311962 Pole2 DNA polymerase epsilon 2, accessory subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311964 Rbbp6 RB binding protein 6, ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1323690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311966 Rbm27 RNA binding motif protein 27 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311966 Rbm27 RNA binding motif protein 27 gene DOID:630 genetic disease ISO RGD:1323694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311966 Rbm27 RNA binding motif protein 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323694 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311966 Rbm27 RNA binding motif protein 27 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311967 Tubd1 tubulin, delta 1 gene DOID:0050777 Joubert syndrome ISO RGD:1323696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311967 Tubd1 tubulin, delta 1 gene DOID:630 genetic disease ISO RGD:1323696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:7240710 20180307 OMIM 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects PMID:16199547|PMID:17576681|PMID:20335603|PMID:21763480|PMID:24668659|PMID:25326635|PMID:25741868|PMID:25893793|PMID:26633542|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:31196143|PMID:31438591|PMID:31988067|PMID:9536098 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1323698 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20335603|PMID:28492532 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1323698 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:630 genetic disease ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311968 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1311970 Zc2hc1a zinc finger, C2HC-type containing 1A gene DOID:630 genetic disease ISO RGD:1602891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1323703 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1323703 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:12709789|PMID:25446085|PMID:28492532|PMID:28604960 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:7240710 20140903 OMIM 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 3 PMID:25741868 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:1596 depressive disorder IEP D RGD:13801196|PMID:22311638 20181220 RGD 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:630 genetic disease ISO RGD:1323703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311971 Uqcrb ubiquinol-cytochrome c reductase binding protein gene DOID:655 inherited metabolic disorder ISO RGD:1323703 D RGD:1599707|PMID:12709789 20070213 RGD mitochondrial complex III deficiency, OMIM:124000 1311972 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311972 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:684 hepatocellular carcinoma ISS RGD:1323706 D RGD:13592920 20180518 MouseDO OMIM:114550 1311972 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1323705 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Global developmental delay 1311972 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISS RGD:1323706 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 1311973 Tnnc2 troponin C2, fast skeletal type gene DOID:2234 focal epilepsy ISO RGD:1323707 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1311973 Tnnc2 troponin C2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1323707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311973 Tnnc2 troponin C2, fast skeletal type gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1311973 Tnnc2 troponin C2, fast skeletal type gene DOID:9006710 Congenital Myopathy 15 ISO RGD:1323707 D RGD:7240710 20230301 OMIM 1311973 Tnnc2 troponin C2, fast skeletal type gene DOID:9006710 Congenital Myopathy 15 ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neonatal respiratory insufficiency PMID:33755597 1311974 Usp38 ubiquitin specific peptidase 38 gene DOID:630 genetic disease ISO RGD:1323709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311976 Ddx28 DEAD-box helicase 28 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1311976 Ddx28 DEAD-box helicase 28 gene DOID:630 genetic disease ISO RGD:1323712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:0060224 atrial fibrillation ISO RGD:1323714 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:5844 myocardial infarction IEP D RGD:1642800|PMID:17034771 20090903 RGD protein:decreased expression:heart 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:630 genetic disease ISO RGD:1323714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1323714 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323714 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1311977 Slc27a6 solute carrier family 27 member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1311979 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:0080490 mucolipidosis type IV ISO RGD:1604796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1311979 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604796 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1311979 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:2843 long QT syndrome ISO RGD:1604796 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1311979 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:630 genetic disease ISO RGD:1604796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1323719 D RGD:11560488|PMID:24710520 20161108 RGD mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:0080600 COVID-19 ISO RGD:1323719 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:10609 rickets ISS RGD:1323720 D RGD:13592920 20180518 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:1323719 D RGD:11560491|PMID:25928877 20161108 RGD DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:1323720 D RGD:11560487|PMID:22732358 20161108 RGD 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:630 genetic disease ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:11560486|PMID:17924334 20161108 RGD DNA:deletion, snps, missense mutations:multiple (human) 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:7240710 20130221 OMIM 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:12868469|PMID:14564151|PMID:17924334|PMID:19250384|PMID:2020859|PMID:20825432|PMID:24033266|PMID:25026495|PMID:25741868|PMID:27862258|PMID:28492532|PMID:32337609 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1323720 D RGD:11558021|PMID:22615579 20161107 RGD 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:9004003 Tooth Demineralization ISO RGD:1323719 D RGD:11558022|PMID:23325605 20161107 RGD associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human) 1311980 Fam20c FAM20C, golgi associated secretory pathway kinase gene DOID:9008539 Perinatal Death ISO RGD:1323719 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 1311981 Slc39a11 solute carrier family 39, member 11 gene DOID:0080600 COVID-19 ISO RGD:1323721 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311981 Slc39a11 solute carrier family 39, member 11 gene DOID:3070 high grade glioma ISO RGD:1323721 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1311981 Slc39a11 solute carrier family 39, member 11 gene DOID:630 genetic disease ISO RGD:1323721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1607032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:12849 autistic disorder ISO RGD:1607032 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:630 genetic disease ISO RGD:1607032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1607032 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:7240710 20190315 OMIM 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fontaine progeroid syndrome PMID:10215548|PMID:10594888|PMID:19731360|PMID:21216154|PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094 1311982 Slc25a24 solute carrier family 25 member 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:11446 sciatic neuropathy IEP D RGD:9850145|PMID:16863689 20150330 RGD 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:2377 multiple sclerosis ISO RGD:1323724 D RGD:6892695|PMID:20072140 20150331 RGD DNA:SNPs:intron: (rs997941, rs34925346) (human) 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:3328 temporal lobe epilepsy IEP D RGD:9850144|PMID:25420768 20150330 RGD protein:decreased expression:CA3 field of hippocampus 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:9850121|PMID:21840379 20150327 RGD 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:9850122|PMID:23275173 20150327 RGD 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:630 genetic disease ISO RGD:1323724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:9850138|PMID:16585268 20150330 RGD 1311983 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:9002560 Penetrating Eye Injuries IEP D RGD:9850142|PMID:21887516 20150330 RGD protein:increased expression:retina 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:1059 intellectual disability ISO RGD:1323726 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:5082 liver cirrhosis ISO RGD:1323726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:630 genetic disease ISO RGD:1323726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1323726 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:16973841|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1311984 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 susceptibility ISO RGD:1323726 D RGD:7240710 20190502 OMIM 1311985 Arpc3 actin related protein 2/3 complex, subunit 3 gene DOID:14330 Parkinson's disease treatment IDA D RGD:11049454|PMID:20713051 20160406 RGD 1311985 Arpc3 actin related protein 2/3 complex, subunit 3 gene DOID:9351 diabetes mellitus ISO RGD:1323728 D RGD:11049459|PMID:26504501 20160406 RGD associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human) 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1323730 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1323730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:1059 intellectual disability ISO RGD:1323730 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1323730 D RGD:5135022|PMID:18334635 20110708 RGD 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27103662 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:5135019|PMID:19392992 20110708 RGD 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:5135020|PMID:19796209 20110708 RGD Aspirin exacerbated asthma 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323731 D RGD:5135018|PMID:18757520 20110708 RGD 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323730 D RGD:5135021|PMID:19230460 20110708 RGD 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323731 D RGD:5135017|PMID:19608418 20110708 RGD 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:630 genetic disease ISO RGD:1323730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311986 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:9005372 Inflammation ISO RGD:1323731 D RGD:5135015|PMID:21646789 20110708 RGD 1311987 Pld6 phospholipase D family, member 6 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1602058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:15852235|PMID:20188345|PMID:28492532 1311987 Pld6 phospholipase D family, member 6 gene DOID:0050777 Joubert syndrome ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1311987 Pld6 phospholipase D family, member 6 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602058 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1311987 Pld6 phospholipase D family, member 6 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1311987 Pld6 phospholipase D family, member 6 gene DOID:12849 autistic disorder ISO RGD:1602058 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1311987 Pld6 phospholipase D family, member 6 gene DOID:630 genetic disease ISO RGD:1602058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311988 Fam83b family with sequence similarity 83, member B gene DOID:630 genetic disease ISO RGD:1323733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311989 Ckap4 cytoskeleton-associated protein 4 gene DOID:630 genetic disease ISO RGD:1323735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311989 Ckap4 cytoskeleton-associated protein 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323735 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human) 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348189 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1348189 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:7240710 20140911 OMIM 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:27444738|PMID:28492532|PMID:28708303|PMID:31660686|PMID:32979048|PMID:9536098 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:1059 intellectual disability ISO RGD:1348189 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532|PMID:28708303|PMID:32979048 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:607 paraplegia ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:26633542|PMID:27444738|PMID:28492532|PMID:28708303|PMID:30283821|PMID:31660686|PMID:31915823|PMID:32979048|PMID:9536098 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32979048 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532 1311990 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348189 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1311991 Erf Ets2 repressor factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1311991 Erf Ets2 repressor factor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1311991 Erf Ets2 repressor factor gene DOID:1882 atrial heart septal defect ISO RGD:1323738 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1311991 Erf Ets2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 1311991 Erf Ets2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31785789 1311991 Erf Ets2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:17576681|PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098 1311991 Erf Ets2 repressor factor gene DOID:5419 schizophrenia ISO RGD:1323738 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1311991 Erf Ets2 repressor factor gene DOID:630 genetic disease ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30569521|PMID:30728880|PMID:30758909|PMID:31837199|PMID:32370745|PMID:32592542|PMID:8418638 1311991 Erf Ets2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:7240710 20190315 OMIM 1311991 Erf Ets2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chitayat syndrome PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:32592542|PMID:8418638 1311991 Erf Ets2 repressor factor gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1323738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 1311991 Erf Ets2 repressor factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323738 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1311991 Erf Ets2 repressor factor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1311991 Erf Ets2 repressor factor gene DOID:9003816 Macrocephaly ISO RGD:1323738 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Macrocephaly 1311991 Erf Ets2 repressor factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23354439|PMID:25741868|PMID:28492532|PMID:30758909|PMID:32370745 1311991 Erf Ets2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:7240710 20190327 OMIM 1311991 Erf Ets2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:32370745 1311991 Erf Ets2 repressor factor gene DOID:9005466 Language Development Disorders ISO RGD:1323738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 1311991 Erf Ets2 repressor factor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323738 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 1311991 Erf Ets2 repressor factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 1311991 Erf Ets2 repressor factor gene DOID:9269 maple syrup urine disease ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1311991 Erf Ets2 repressor factor gene DOID:936 brain disease ISO RGD:1323738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1311991 Erf Ets2 repressor factor gene DOID:9538 multiple myeloma ISO RGD:1323738 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1311992 Cgn cingulin gene DOID:0060041 autism spectrum disorder ISO RGD:1323740 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1311992 Cgn cingulin gene DOID:0080422 Dravet syndrome ISO RGD:1323740 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1311992 Cgn cingulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1311992 Cgn cingulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1311992 Cgn cingulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1311992 Cgn cingulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323740 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1311992 Cgn cingulin gene DOID:5812 MHC class II deficiency ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1311992 Cgn cingulin gene DOID:630 genetic disease ISO RGD:1323740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311992 Cgn cingulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323740 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1311994 Sowahb sosondowah ankyrin repeat domain family member B gene DOID:630 genetic disease ISO RGD:1605533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311994 Sowahb sosondowah ankyrin repeat domain family member B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323745 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323745 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323745 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1323745 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:3770 pulmonary fibrosis ISO RGD:1323745 D RGD:5130910|PMID:17717200 20110413 RGD mRNA:increased expression:lung 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:630 genetic disease ISO RGD:1323745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:7148 rheumatoid arthritis ISO RGD:1323745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1323745 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1323745 D RGD:38508895|PMID:23593305 20200819 RGD protein:increased expression:plasma (human) 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1311996 Ccl21 C-C motif chemokine ligand 21 gene DOID:9870 galactosemia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0050169 cutaneous lupus erythematosus ISS RGD:1320018 D RGD:13592920 20180518 MouseDO 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1323748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1323748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17846997|PMID:20131292|PMID:23602593|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28750028 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0060386 Chilblain lupus ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17660820 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:7240710 20130221 OMIM 1311998 Trex1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:9371916 1311998 Trex1 three prime repair exonuclease 1 gene DOID:13945 CADASIL ISO RGD:1323748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 1311998 Trex1 three prime repair exonuclease 1 gene DOID:630 genetic disease ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 1311998 Trex1 three prime repair exonuclease 1 gene DOID:8725 vascular dementia ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:7240710 20180725 OMIM 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:35307828 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9001488 Human Influenza ISO RGD:1323748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9005372 Inflammation ISO RGD:1323748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:7240710 20130221 OMIM 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:23602593|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:28492532 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17660818 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:7240710 20130221 OMIM 1311998 Trex1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 1311998 Trex1 three prime repair exonuclease 1 gene DOID:936 brain disease ISO RGD:1323748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:7240710 20190710 OMIM 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 PMID:25741868|PMID:28492532 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:1059 intellectual disability ISO RGD:1323750 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1323750 D RGD:11554173 20190716 CTD CTD Direct Evidence: marker/mechanism 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1323750 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323750 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:2921 glomerulonephritis IEP D RGD:2316995|PMID:7538648 20100309 RGD protein:increased expression:kidney, glomerulus (rat) 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323750 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323750 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:5119 ovarian cyst ISO RGD:1323750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:630 genetic disease ISO RGD:1323750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1311999 Ms4a1 membrane spanning 4-domains A1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1323750 D RGD:2316994|PMID:19911856 20100309 RGD 1312000 Asph aspartate-beta-hydroxylase gene DOID:0050834 CHARGE syndrome ISO RGD:1323751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 1312000 Asph aspartate-beta-hydroxylase gene DOID:4947 cholangiocarcinoma ISO RGD:1323751 D RGD:6902945|PMID:21898484 20120925 RGD 1312000 Asph aspartate-beta-hydroxylase gene DOID:630 genetic disease ISO RGD:1323751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312000 Asph aspartate-beta-hydroxylase gene DOID:8545 malignant hyperthermia ISO RGD:1323751 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia 1312000 Asph aspartate-beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:7240710 20141015 OMIM 1312000 Asph aspartate-beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: SHAWAF-TRABOULSI SYNDROME PMID:11241487|PMID:23687502|PMID:24768550|PMID:25741868|PMID:28492532|PMID:30194805|PMID:31274573|PMID:33217155 1312000 Asph aspartate-beta-hydroxylase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1323751 D RGD:2325824|PMID:16673309 20100610 RGD mRNA:increased expression:bile duct 1312001 Rdh11 retinol dehydrogenase 11 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1323753 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1312001 Rdh11 retinol dehydrogenase 11 gene DOID:607 paraplegia ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1312001 Rdh11 retinol dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1323753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1312001 Rdh11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:7240710 20160713 OMIM 1312001 Rdh11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 1312002 Cobl cordon-bleu WH2 repeat protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323755 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1312002 Cobl cordon-bleu WH2 repeat protein gene DOID:630 genetic disease ISO RGD:1323755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080600 COVID-19 ISO RGD:1604512 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:7240710 20170315 OMIM 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604512 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28733338|PMID:9536098 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:7240710 20201021 OMIM 1312003 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823 1312004 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1312004 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1312004 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:630 genetic disease ISO RGD:1323758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312004 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323758 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1312005 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1312005 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:14330 Parkinson's disease ISS RGD:1323760 D RGD:13592920 20210128 MouseDO 1312005 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:7240710 20230215 OMIM 1312005 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 PMID:35727972 1312005 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291767 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1312005 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1312006 Ift80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:16199547|PMID:16385454|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:9536098 1312006 Ift80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 1312006 Ift80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 1312006 Ift80 intraflagellar transport 80 gene DOID:0060118 thoracic disease ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:0080006 bone development disease ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:7240710 20130221 OMIM 1312006 Ift80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:21227999|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:30266093|PMID:30767363|PMID:9536098 1312006 Ift80 intraflagellar transport 80 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISS RGD:1550300 D RGD:13592920 20180518 MouseDO OMIM:613091 1312006 Ift80 intraflagellar transport 80 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606252 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:19648123|PMID:28492532|PMID:29068549|PMID:30266093 1312006 Ift80 intraflagellar transport 80 gene DOID:11162 respiratory failure ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:1148 polydactyly ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:2975 cystic kidney disease ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:630 genetic disease ISO RGD:1606252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1312006 Ift80 intraflagellar transport 80 gene DOID:65 connective tissue disease ISO RGD:1606252 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1312006 Ift80 intraflagellar transport 80 gene DOID:8466 retinal degeneration ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:9001041 Asphyxia ISO RGD:1606252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 1312006 Ift80 intraflagellar transport 80 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606252 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:28492532|PMID:29068549 1312007 Etv1 ETS variant transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323762 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1312007 Etv1 ETS variant transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312007 Etv1 ETS variant transcription factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323762 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:17671502|PMID:27783944 1312007 Etv1 ETS variant transcription factor 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1323762 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 1312007 Etv1 ETS variant transcription factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323762 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 1312009 Pak5 p21 (RAC1) activated kinase 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1312009 Pak5 p21 (RAC1) activated kinase 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1312009 Pak5 p21 (RAC1) activated kinase 5 gene DOID:630 genetic disease ISO RGD:1323766 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312009 Pak5 p21 (RAC1) activated kinase 5 gene DOID:9245 Alagille syndrome ISO RGD:1323766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 1312010 Kctd9 potassium channel tetramerization domain containing 9 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1323768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 1312010 Kctd9 potassium channel tetramerization domain containing 9 gene DOID:630 genetic disease ISO RGD:1323768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1323770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1323770 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1323770 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1323770 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:1612 breast cancer resistance ISO RGD:1323770 D RGD:2300321|PMID:17896178 20080912 RGD 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1323770 D RGD:2300329|PMID:17031801 20080912 RGD 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323770 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:863 nervous system disease ISO RGD:1323770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1323770 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323770 D RGD:2300328|PMID:17311260 20080912 RGD 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:no association between SNP rs1979277, rs1979276 or rs3783 and susceptibility to breast cancer PMID:17311260|REF_RGD_ID:2300328 1312011 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323770 D RGD:8554872 20141209 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:28492532 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1323774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16672222 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323774 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:630 genetic disease ISO RGD:1323774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:9001341 Chloracne ISO RGD:1323774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:7240710 20131120 OMIM 1312013 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to PMID:11369620|PMID:12714505|PMID:12930399|PMID:15238149|PMID:25741868|PMID:28492532|PMID:6310729 1312014 Lrrc52 leucine rich repeat containing 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1603449 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1312014 Lrrc52 leucine rich repeat containing 52 gene DOID:630 genetic disease ISO RGD:1603449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312014 Lrrc52 leucine rich repeat containing 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603449 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:0110253 cataract 14 multiple types ISO RGD:1323777 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1323777 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:14693 Clouston syndrome ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:2121 ectodermal dysplasia ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 1312015 Xpo4 exportin 4 gene DOID:630 genetic disease ISO RGD:1323777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312016 Slc43a3 solute carrier family 43, member 3 gene DOID:0080600 COVID-19 ISO RGD:1323779 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1312016 Slc43a3 solute carrier family 43, member 3 gene DOID:1059 intellectual disability ISO RGD:1323779 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1312016 Slc43a3 solute carrier family 43, member 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1312016 Slc43a3 solute carrier family 43, member 3 gene DOID:630 genetic disease ISO RGD:1323779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312017 Lynx1 Ly6/neurotoxin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1312017 Lynx1 Ly6/neurotoxin 1 gene DOID:4621 holoprosencephaly ISO RGD:1604308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1312017 Lynx1 Ly6/neurotoxin 1 gene DOID:630 genetic disease ISO RGD:1604308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312018 Zfp503 zinc finger protein 503 gene DOID:630 genetic disease ISO RGD:1323782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312018 Zfp503 zinc finger protein 503 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1323782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 1312020 Kctd8 potassium channel tetramerization domain containing 8 gene DOID:630 genetic disease ISO RGD:1323784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312021 Tnks1bp1 tankyrase 1 binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1323786 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1312021 Tnks1bp1 tankyrase 1 binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1323786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1312021 Tnks1bp1 tankyrase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1323786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312022 Sox15 SRY-box transcription factor 15 gene DOID:0060224 atrial fibrillation ISO RGD:1323788 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1312022 Sox15 SRY-box transcription factor 15 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1312022 Sox15 SRY-box transcription factor 15 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1323788 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F 1312022 Sox15 SRY-box transcription factor 15 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1312022 Sox15 SRY-box transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1323788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1312022 Sox15 SRY-box transcription factor 15 gene DOID:12177 common variable immunodeficiency ISO RGD:1323788 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1312022 Sox15 SRY-box transcription factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1323788 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1312022 Sox15 SRY-box transcription factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1312022 Sox15 SRY-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1323788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312023 Uba2 ubiquitin-like modifier activating enzyme 2 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:1602133 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 1312023 Uba2 ubiquitin-like modifier activating enzyme 2 gene DOID:0090020 split hand-foot malformation ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868|PMID:34040189 1312023 Uba2 ubiquitin-like modifier activating enzyme 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1312023 Uba2 ubiquitin-like modifier activating enzyme 2 gene DOID:630 genetic disease ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34040189 1312023 Uba2 ubiquitin-like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:7240710 20220831 OMIM 1312023 Uba2 ubiquitin-like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME PMID:11920840|PMID:25741868|PMID:28110515|PMID:28492532|PMID:31332306|PMID:31587267|PMID:32758660|PMID:34040189 1312024 Irf8 interferon regulatory factor 8 gene DOID:0060761 familial chronic myelocytic leukemia-like syndrome ISS RGD:1621626 D RGD:13592920 20180518 MouseDO OMIM:600080 1312024 Irf8 interferon regulatory factor 8 gene DOID:0070004 myeloid neoplasm ISO RGD:1621626 D RGD:11530030|PMID:20585039 20160819 RGD 1312024 Irf8 interferon regulatory factor 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1621626 D RGD:11530030|PMID:20585039 20160819 RGD 1312024 Irf8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:21524210|PMID:27893462 1312024 Irf8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:7240710 20190315 OMIM 1312024 Irf8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:16199547|PMID:17576681|PMID:21524210|PMID:24435047|PMID:25122610|PMID:25741868|PMID:26038974|PMID:27893462|PMID:28492532|PMID:30840779|PMID:32499645|PMID:6279813|PMID:9536098 1312024 Irf8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:7240710 20150701 OMIM 1312024 Irf8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency PMID:21524210|PMID:25741868|PMID:28492532 1312024 Irf8 interferon regulatory factor 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351360 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1312024 Irf8 interferon regulatory factor 8 gene DOID:2377 multiple sclerosis ISO RGD:1351360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525953 1312024 Irf8 interferon regulatory factor 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:28492532|PMID:32499645 1312024 Irf8 interferon regulatory factor 8 gene DOID:630 genetic disease ISO RGD:1351360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312024 Irf8 interferon regulatory factor 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1312024 Irf8 interferon regulatory factor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1312024 Irf8 interferon regulatory factor 8 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1351360 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1312025 Slfn5 schlafen family member 5 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1603889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1312025 Slfn5 schlafen family member 5 gene DOID:630 genetic disease ISO RGD:1603889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312026 Peak1 pseudopodium-enriched atypical kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:7374592 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1312026 Peak1 pseudopodium-enriched atypical kinase 1 gene DOID:5419 schizophrenia ISO RGD:7374592 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1312026 Peak1 pseudopodium-enriched atypical kinase 1 gene DOID:630 genetic disease ISO RGD:7374592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312026 Peak1 pseudopodium-enriched atypical kinase 1 gene DOID:9256 colorectal cancer ISO RGD:7374592 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1312027 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1323795 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1312027 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1323795 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1312027 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1323795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312027 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323795 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:22634755|PMID:30510241 1312028 Pgam5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:630 genetic disease ISO RGD:1604217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312028 Pgam5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:9256 colorectal cancer ISO RGD:1604217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 1312029 Plekhf2 pleckstrin homology and FYVE domain containing 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 1312029 Plekhf2 pleckstrin homology and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1323798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312030 Cnih1 cornichon family AMPA receptor auxiliary protein 1 gene DOID:0090043 dystonia 5 ISO RGD:1323800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 1312030 Cnih1 cornichon family AMPA receptor auxiliary protein 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1323800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 1312031 Zfp35 zinc finger protein 35 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1312031 Zfp35 zinc finger protein 35 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1350135 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1312031 Zfp35 zinc finger protein 35 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1312031 Zfp35 zinc finger protein 35 gene DOID:630 genetic disease ISO RGD:1350135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312032 Nckap1l NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:7240710 20200902 OMIM 1312032 Nckap1l NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation PMID:25741868|PMID:28492532|PMID:32646852|PMID:32647003|PMID:32766723 1312032 Nckap1l NCK associated protein 1 like gene DOID:630 genetic disease ISO RGD:1323803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1312032 Nckap1l NCK associated protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1312033 Neil2 nei-like DNA glycosylase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323805 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 1312033 Neil2 nei-like DNA glycosylase 2 gene DOID:630 genetic disease ISO RGD:1323805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312033 Neil2 nei-like DNA glycosylase 2 gene DOID:9002189 High Myopia ISO RGD:1323805 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1312033 Neil2 nei-like DNA glycosylase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323805 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1312034 Klhl26 kelch-like family member 26 gene DOID:630 genetic disease ISO RGD:1602473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312034 Klhl26 kelch-like family member 26 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1602473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1312035 Stk4 serine/threonine kinase 4 gene DOID:2234 focal epilepsy ISO RGD:1323808 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1312035 Stk4 serine/threonine kinase 4 gene DOID:3312 bipolar disorder ISO RGD:1323808 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1312035 Stk4 serine/threonine kinase 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1323808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:22174160|PMID:25741868|PMID:28492532 1312035 Stk4 serine/threonine kinase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1323808 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 1312035 Stk4 serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1312035 Stk4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:7240710 20140903 OMIM 1312035 Stk4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:16199547|PMID:17576681|PMID:22174160|PMID:22294732|PMID:25741868|PMID:26801501|PMID:28492532|PMID:9536098 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:543 dystonia ISO RGD:1347919 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:630 genetic disease ISO RGD:1347919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:7240710 20210721 OMIM 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 2 PMID:20929727|PMID:21412258|PMID:25741868|PMID:27900998|PMID:28287404|PMID:28492532|PMID:28601418 1312037 Psenen presenilin enhancer gamma secretase subunit gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1347919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 1312038 Agmo alkylglycerol monooxygenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606863 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1312038 Agmo alkylglycerol monooxygenase gene DOID:630 genetic disease ISO RGD:1606863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1312039 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1323814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312039 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323814 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1312040 Senp3 SUMO specific peptidase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1312040 Senp3 SUMO specific peptidase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1312040 Senp3 SUMO specific peptidase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1323815 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1312040 Senp3 SUMO specific peptidase 3 gene DOID:2661 myoepithelioma ISO RGD:1323815 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1312040 Senp3 SUMO specific peptidase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1323815 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1312040 Senp3 SUMO specific peptidase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1312040 Senp3 SUMO specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1323815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312041 Shisa4 shisa family member 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1312041 Shisa4 shisa family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1323817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1312041 Shisa4 shisa family member 4 gene DOID:630 genetic disease ISO RGD:1323817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312041 Shisa4 shisa family member 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1312041 Shisa4 shisa family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323817 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1312042 Lnpk lunapark, ER junction formation factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1323819 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1312042 Lnpk lunapark, ER junction formation factor gene DOID:630 genetic disease ISO RGD:1323819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312042 Lnpk lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:7240710 20190315 OMIM 1312042 Lnpk lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum PMID:25741868|PMID:30032983 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:0050700 cardiomyopathy ISO RGD:1323821 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1323821 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 ISO RGD:1323821 D RGD:7240710 20150114 OMIM 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 PMID:12474143|PMID:15235026|PMID:15863660|PMID:17576681|PMID:21412973|PMID:2175025|PMID:22310368|PMID:25741868|PMID:26940873|PMID:26959537|PMID:28492532|PMID:31967322|PMID:32232962|PMID:33746038|PMID:9536098 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323821 D RGD:1598468|PMID:12474143 20061130 RGD 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:3652 Leigh disease ISO RGD:1323821 D RGD:1598467|PMID:15235026 20061130 RGD 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:3652 Leigh disease ISO RGD:1323821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12474143|PMID:15863660|PMID:17576681|PMID:21412973|PMID:22310368|PMID:25741868|PMID:26959537|PMID:28492532|PMID:32232962|PMID:33746038|PMID:9536098 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 1312043 Cox15 cytochrome c oxidase assembly homolog COX15 gene DOID:630 genetic disease ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12474143|PMID:15235026|PMID:21412973|PMID:2175025|PMID:25741868|PMID:26940873|PMID:28492532|PMID:31967322|PMID:32232962 1312045 Tex10 testis expressed 10 gene DOID:1059 intellectual disability ISO RGD:1323824 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1312045 Tex10 testis expressed 10 gene DOID:630 genetic disease ISO RGD:1323824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312046 Mc1r melanocortin 1 receptor gene DOID:0060180 colitis ISO RGD:1323827 D RGD:5687320|PMID:16543288 20120207 RGD 1312046 Mc1r melanocortin 1 receptor gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1323826 D RGD:7240710 20131218 OMIM 1312046 Mc1r melanocortin 1 receptor gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10631149|PMID:11487574|PMID:11511307|PMID:11933208|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16280005|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17434924|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19710684|PMID:19799798|PMID:20876876|PMID:21128237|PMID:21749400|PMID:22095472|PMID:22547573|PMID:23312576|PMID:23360207|PMID:23522749|PMID:23647022|PMID:24033266|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25284244|PMID:25631192|PMID:25741868|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:28242083|PMID:28492532|PMID:7581459|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 1312046 Mc1r melanocortin 1 receptor gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1323826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1312046 Mc1r melanocortin 1 receptor gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1323826 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1312046 Mc1r melanocortin 1 receptor gene DOID:12306 vitiligo ISO RGD:1323826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 1312046 Mc1r melanocortin 1 receptor gene DOID:13636 Fanconi anemia ISO RGD:1323826 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29098742|PMID:9721219 1312046 Mc1r melanocortin 1 receptor gene DOID:1470 major depressive disorder ISO RGD:1323826 D RGD:5687198|PMID:21052032 20120206 RGD DNA:SNP:cds: rs885479,R163Q 1312046 Mc1r melanocortin 1 receptor gene DOID:1612 breast cancer ISO RGD:1323826 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10631149|PMID:12876664|PMID:15994880|PMID:16601669|PMID:17616515|PMID:17952075|PMID:19320745|PMID:19585506|PMID:19710684|PMID:21128237|PMID:24439955|PMID:25631192|PMID:25741868|PMID:26389780|PMID:26389967|PMID:28492532|PMID:9302268|PMID:9665397 1312046 Mc1r melanocortin 1 receptor gene DOID:1909 melanoma ISO RGD:1323826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578364|PMID:21559390|PMID:21983785 1312046 Mc1r melanocortin 1 receptor gene DOID:1909 melanoma ISO RGD:1323826 D RGD:1600619|PMID:8894704 20070320 RGD DNA:missense mutations:cds:multiple (human) 1312046 Mc1r melanocortin 1 receptor gene DOID:1909 melanoma ISO RGD:1323826 D RGD:6484659|PMID:17434924 20120627 RGD DNA:missense mutations:cds:multiple (human) 1312046 Mc1r melanocortin 1 receptor gene DOID:1909 melanoma ISO RGD:1323826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Melanoma PMID:16809487|PMID:16982779|PMID:17616515|PMID:18366057|PMID:19799798|PMID:21128237|PMID:23647022|PMID:24033266|PMID:25741868|PMID:26103569|PMID:26197705|PMID:28492532|PMID:7581459 1312046 Mc1r melanocortin 1 receptor gene DOID:2513 basal cell carcinoma ISO RGD:1323826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539553 1312046 Mc1r melanocortin 1 receptor gene DOID:3042 allergic contact dermatitis ISO RGD:1323827 D RGD:5687319|PMID:20126537 20120207 RGD 1312046 Mc1r melanocortin 1 receptor gene DOID:3310 atopic dermatitis ISO RGD:1323827 D RGD:5687321|PMID:19889022 20120207 RGD protein: increased expression: skin 1312046 Mc1r melanocortin 1 receptor gene DOID:630 genetic disease ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1312046 Mc1r melanocortin 1 receptor gene DOID:6741 bilateral breast cancer ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:16809487|PMID:16982779|PMID:24335900|PMID:24982914|PMID:25741868|PMID:28492532 1312046 Mc1r melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:7240710 20131218 OMIM 1312046 Mc1r melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389967|PMID:26546047|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28166811|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 1312046 Mc1r melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23522749|PMID:23647022|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27473757|PMID:28166811|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 1312046 Mc1r melanocortin 1 receptor gene DOID:6846 familial melanoma ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397 1312046 Mc1r melanocortin 1 receptor gene DOID:874 bacterial pneumonia ISO RGD:1323827 D RGD:5687324|PMID:18304533 20120207 RGD 1312046 Mc1r melanocortin 1 receptor gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1323826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:16809487|PMID:17279550|PMID:17316231|PMID:18067130|PMID:18803811|PMID:19585506|PMID:20876876|PMID:28492532 1312046 Mc1r melanocortin 1 receptor gene DOID:9002211 Hyperalgesia ISO RGD:1323826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19996949 1312046 Mc1r melanocortin 1 receptor gene DOID:9002782 UV-Induced Skin Damage ISO RGD:1323826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-induced skin damage, susceptibility to PMID:16463023|PMID:28492532 1312046 Mc1r melanocortin 1 receptor gene DOID:9003838 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ISO RGD:1323826 D RGD:7240710 20210421 OMIM 1312046 Mc1r melanocortin 1 receptor gene DOID:9003838 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 ISO RGD:1323826 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RED HAIR COLOR | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 2 PMID:10631149|PMID:12839583|PMID:16601669|PMID:17072629|PMID:17616515|PMID:18067130|PMID:19585506|PMID:19710684|PMID:21128237|PMID:23522749|PMID:23647022|PMID:24335900|PMID:25741868|PMID:26197705|PMID:28242083|PMID:28492532|PMID:9302268 1312046 Mc1r melanocortin 1 receptor gene DOID:9004009 Reperfusion Injury no_association ISO RGD:1323827 D RGD:5687323|PMID:18757499 20120207 RGD 1312046 Mc1r melanocortin 1 receptor gene DOID:9004118 Experimental Melanoma ISO RGD:1323827 D RGD:5687319|PMID:20126537 20120207 RGD 1312046 Mc1r melanocortin 1 receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484138|PMID:22183812 20120612 RGD mRNA:increased expression:liver (rat) 1312046 Mc1r melanocortin 1 receptor gene DOID:9005660 Hypopigmentation ISO RGD:1323826 D RGD:1600618|PMID:11030758 20070320 RGD DNA:missense mutations,insertions:cds:multiple 1312046 Mc1r melanocortin 1 receptor gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:5687322|PMID:18790174 20120207 RGD protein:decreased expression:kidney outer medulla 1312046 Mc1r melanocortin 1 receptor gene DOID:9007480 Hyperoxia ISO RGD:1323827 D RGD:6484136|PMID:8110467 20120626 RGD mRNA:increased expression:lung (mouse) 1312046 Mc1r melanocortin 1 receptor gene DOID:9008103 Seasonal Allergic Rhinitis no_association ISO RGD:1323827 D RGD:5687317|PMID:20357480 20120207 RGD 1312047 Hes6 hes family bHLH transcription factor 6 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1312047 Hes6 hes family bHLH transcription factor 6 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1312047 Hes6 hes family bHLH transcription factor 6 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1312047 Hes6 hes family bHLH transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1323828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1312047 Hes6 hes family bHLH transcription factor 6 gene DOID:630 genetic disease ISO RGD:1323828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312047 Hes6 hes family bHLH transcription factor 6 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1312048 Mycbp2 MYC binding protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323830 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1312048 Mycbp2 MYC binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323830 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1312048 Mycbp2 MYC binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 1312048 Mycbp2 MYC binding protein 2 gene DOID:630 genetic disease ISO RGD:1323830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312048 Mycbp2 MYC binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1323830 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1312049 Akt1s1 AKT1 substrate 1 gene DOID:630 genetic disease ISO RGD:1323832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1312049 Akt1s1 AKT1 substrate 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1323832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17457363 1312049 Akt1s1 AKT1 substrate 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1323832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16397181 13204831 CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo gene DOID:10907 microcephaly IAGP D RGD:13204836|PMID:10219263 20180501 RGD 13204831 CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo gene DOID:11832 visual epilepsy IAGP D RGD:13204836|PMID:10219263 20180501 RGD 13204831 CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo gene DOID:1826 epilepsy IAGP D RGD:13204836|PMID:10219263 20201210 RGD 13209000 Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi gene DOID:9001371 Eosinophilia IAGP D RGD:11040542|PMID:19406829 20170828 RGD 13209000 Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi gene DOID:9001371 Eosinophilia IAGP D RGD:5134976|PMID:20660993 20201210 RGD 13209000 Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi gene DOID:9001371 Eosinophilia IAGP D RGD:5134988|PMID:21512270 20201210 RGD 1331720 Rf43 Renal function QTL 43 qtl DOID:1073 renal hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331720 Rf43 Renal function QTL 43 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331721 Bp210 Blood pressure QTL 210 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331721 Bp210 Blood pressure QTL 210 qtl DOID:114 heart disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331722 Thshl1 Thyroid stimulating hormone level QTL 1 qtl DOID:50 thyroid gland disease IAGP D RGD:1302891|PMID:15514085 19990101 RGD 1331723 Bw25 Body weight QTL 25 qtl DOID:9970 obesity IDA D RGD:70849|PMID:11721057 19990101 RGD 1331724 Bp223 Blood pressure QTL 223 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331725 Bp212 Blood pressure QTL 212 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331726 Bp208 Blood pressure QTL 208 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331726 Bp208 Blood pressure QTL 208 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331727 Bp237 Blood pressure QTL 237 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331728 Bp214 Blood pressure QTL 214 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331729 Rf42 Renal function QTL 42 qtl DOID:1073 renal hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331729 Rf42 Renal function QTL 42 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331730 Scl27 Serum cholesterol level QTL 27 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331731 Bp216 Blood pressure QTL 216 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331732 Srn4 Serum renin concentration QTL 4 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331733 Bp233 Blood pressure QTL 233 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331734 Bp204 Blood pressure QTL 204 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331735 Rf44 Renal function QTL 44 qtl DOID:576 proteinuria IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331736 Bp227 Blood pressure QTL 227 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331737 Uae29 Urinary albumin excretion QTL 29 qtl DOID:576 proteinuria IAGP D RGD:1300043|PMID:15161966 19990101 RGD 1331737 Uae29 Urinary albumin excretion QTL 29 qtl DOID:9001542 Albuminuria IAGP D RGD:1300043|PMID:15161966 19990101 RGD 1331738 Bp209 Blood pressure QTL 209 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331739 Hrtrt14 Heart rate QTL 14 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331739 Hrtrt14 Heart rate QTL 14 qtl DOID:1287 cardiovascular system disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331740 Bw26 Body weight QTL 26 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331740 Bw26 Body weight QTL 26 qtl DOID:114 heart disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331740 Bw26 Body weight QTL 26 qtl DOID:9970 obesity IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331741 Bp232 Blood pressure QTL 232 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331742 Bp228 Blood pressure QTL 228 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331743 Uae28 Urinary albumin excretion QTL 28 qtl DOID:576 proteinuria IAGP D RGD:1300043|PMID:15161966 19990101 RGD 1331743 Uae28 Urinary albumin excretion QTL 28 qtl DOID:9001542 Albuminuria IAGP D RGD:1300043|PMID:15161966 19990101 RGD 1331744 Bp217 Blood pressure QTL 217 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331744 Bp217 Blood pressure QTL 217 qtl DOID:576 proteinuria IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331745 Bp203 Blood pressure QTL 203 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331746 Kidm9 Kidney mass QTL 9 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331747 Hrtrt16 Heart rate QTL 16 qtl DOID:114 heart disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331748 Bp215 Blood pressure QTL 215 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331749 Hrtrt11 Heart rate QTL 11 qtl DOID:114 heart disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331750 Bp220 Blood pressure QTL 220 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331751 Bp199 Blood pressure QTL 199 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331752 Bw27 Body weight QTL 27 qtl DOID:9970 obesity IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331753 Bp231 Blood pressure QTL 231 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331754 Bp230 Blood pressure QTL 230 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331755 Bp219 Blood pressure QTL 219 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331756 Rf34 Renal function QTL 34 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331757 Cdexp1 CD45RC expression in CD8 T cells QTL 1 qtl DOID:417 autoimmune disease IAGP D RGD:1302824|PMID:15322174 19990101 RGD 1331758 Bp207 Blood pressure QTL 207 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331759 Hrtrt13 Heart rate QTL 13 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331759 Hrtrt13 Heart rate QTL 13 qtl DOID:1287 cardiovascular system disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331760 Bp206 Blood pressure QTL 206 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331761 Bp218 Blood pressure QTL 218 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331762 Rf40 Renal function QTL 40 qtl DOID:1073 renal hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331762 Rf40 Renal function QTL 40 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331763 Wbc2 White blood cell count QTL 2 qtl DOID:114 heart disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331763 Wbc2 White blood cell count QTL 2 qtl DOID:9005372 Inflammation IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331764 Bp205 Blood pressure QTL 205 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331765 Hrtrt15 Heart rate QTL 15 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331765 Hrtrt15 Heart rate QTL 15 qtl DOID:1287 cardiovascular system disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331766 Bp236 Blood pressure QTL 236 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331767 Hrtrt12 Heart rate QTL 12 qtl DOID:114 heart disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331768 Kidm10 Kidney mass QTL 10 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331769 Rf39 Renal function QTL 39 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331770 Bp234 Blood pressure QTL 234 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331771 Rf35 Renal function QTL 35 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331772 Cdexp2 CD45RC expression in CD8 T cells QTL 2 qtl DOID:417 autoimmune disease IAGP D RGD:1302824|PMID:15322174 19990101 RGD 1331773 Scl26 Serum cholesterol level QTL 26 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331774 Bp226 Blood pressure QTL 226 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331775 Bp235 Blood pressure QTL 235 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331776 Bp225 Blood pressure QTL 225 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331777 Bw24 Body weight QTL 24 qtl DOID:9970 obesity IDA D RGD:70849|PMID:11721057 19990101 RGD 1331778 Rf28 Renal function QTL 28 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331779 Rf38 Renal function QTL 38 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331780 Bp238 Blood pressure QTL 238 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331781 Scl28 Serum cholesterol level QTL 28 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331782 Rf36 Renal function QTL 36 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331783 Bp221 Blood pressure QTL 221 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331784 Bp222 Blood pressure QTL 222 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331785 Rf27 Renal function QTL 27 qtl DOID:1073 renal hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331785 Rf27 Renal function QTL 27 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331786 Kidm11 Kidney mass QTL 11 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331787 Rf41 Renal function QTL 41 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331788 Rf45 Renal function QTL 45 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331790 Bp201 Blood pressure QTL 201 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331791 Cm31 Cardiac mass QTL 31 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331791 Cm31 Cardiac mass QTL 31 qtl DOID:9003936 Cardiomegaly IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331792 Rf29 Renal function QTL 29 qtl DOID:557 kidney disease IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331793 Bp200 Blood pressure QTL 200 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331794 Bp202 Blood pressure QTL 202 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331795 Rf30 Renal function QTL 30 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331796 Thshl2 Thyroid stimulating hormone level QTL 2 qtl DOID:50 thyroid gland disease IAGP D RGD:1302891|PMID:15514085 19990101 RGD 1331797 Bp213 Blood pressure QTL 213 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331798 Bp224 Blood pressure QTL 224 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331799 Bp211 Blood pressure QTL 211 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331800 Scl25 Serum cholesterol level QTL 25 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331801 Rf33 Renal function QTL 33 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331802 Srn5 Serum renin concentration QTL 5 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331803 Rf32 Renal function QTL 32 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331804 Cm30 Cardiac mass QTL 30 qtl DOID:9003936 Cardiomegaly IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331804 Cm30 Cardiac mass QTL 30 qtl DOID:9970 obesity IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331805 Cm29 Cardiac mass QTL 29 qtl DOID:9003936 Cardiomegaly IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331806 Bp229 Blood pressure QTL 229 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331807 Rf31 Renal function QTL 31 qtl DOID:10763 hypertension IAGP D RGD:70849|PMID:11721057 19990101 RGD 1331822 DA.ACI-(D10Rat2-D10Rat6) strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195 D RGD:1302437|PMID:15240732 20200430 RGD 1331824 DA.ACI-(D10Rat219-D10Rat29) strain DOID:9002763 Experimental Autoimmune Encephalomyelitis penetrance IAGP XCO:0000195 D RGD:1302437|PMID:15240732 20200430 RGD 1331827 DA.ACI-(D10Rat10-D10Rat142) strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195 D RGD:1302437|PMID:15240732 20200430 RGD 1331830 F344.BN-(D5Rat1-D5Mit5)/Dlw strain DOID:3829 pituitary adenoma penetrance IAGP XCO:0000295 D RGD:1300042|PMID:15166088 20200313 RGD 1331837 Bw23 Body weight QTL 23 qtl DOID:9970 obesity IDA D RGD:1300044|PMID:15164172 19990101 RGD 1331838 Niddm61 Non-insulin dependent diabetes mellitus QTL 61 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:1300044|PMID:15164172 19990101 RGD 1331839 Eae18b Experimental allergic encephalomyelitis QTL 18b qtl DOID:2377 multiple sclerosis QTM D RGD:1302437|PMID:15240732 19990101 RGD 1331839 Eae18b Experimental allergic encephalomyelitis QTL 18b qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis QTM D RGD:1302437|PMID:15240732 19990101 RGD 1332598 Or10a5 olfactory receptor family 10 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1353648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332610 Or4l1 olfactory receptor family 4 subfamily L member 1 gene DOID:630 genetic disease ISO RGD:1349097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332612 Or13c3 olfactory receptor family 13 subfamily C member 3 gene DOID:630 genetic disease ISO RGD:1344868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332620 Or10c1 olfactory receptor family 10 subfamily C member 1 gene DOID:11372 megacolon ISO RGD:1353336 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1332620 Or10c1 olfactory receptor family 10 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1353336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332621 Or4d10 olfactory receptor family 4 subfamily D member 10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1332621 Or4d10 olfactory receptor family 4 subfamily D member 10 gene DOID:1059 intellectual disability ISO RGD:1606644 D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332621 Or4d10 olfactory receptor family 4 subfamily D member 10 gene DOID:630 genetic disease ISO RGD:1606644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332636 Or5m10 olfactory receptor family 5 subfamily M member 10 gene DOID:1059 intellectual disability ISO RGD:1349395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332636 Or5m10 olfactory receptor family 5 subfamily M member 10 gene DOID:630 genetic disease ISO RGD:1349395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332641 Or51g2 olfactory receptor family 51 subfamily G member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1332641 Or51g2 olfactory receptor family 51 subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1351753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332647 Or5m9 olfactory receptor family 5 subfamily M member 9 gene DOID:1059 intellectual disability ISO RGD:1347852 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332647 Or5m9 olfactory receptor family 5 subfamily M member 9 gene DOID:630 genetic disease ISO RGD:1347852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332670 Or2t47 olfactory receptor family 2 subfamily T member 47 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1351819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1332670 Or2t47 olfactory receptor family 2 subfamily T member 47 gene DOID:1540 parathyroid carcinoma ISO RGD:1351819 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1332670 Or2t47 olfactory receptor family 2 subfamily T member 47 gene DOID:630 genetic disease ISO RGD:1351819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332670 Or2t47 olfactory receptor family 2 subfamily T member 47 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351819 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1332672 Or6k4 olfactory receptor family 6 subfamily K member 14B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1332672 Or6k4 olfactory receptor family 6 subfamily K member 14B gene DOID:1540 parathyroid carcinoma ISO RGD:1352543 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1332672 Or6k4 olfactory receptor family 6 subfamily K member 14B gene DOID:630 genetic disease ISO RGD:1352543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332672 Or6k4 olfactory receptor family 6 subfamily K member 14B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352543 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1332674 Or8k3 olfactory receptor family 8 subfamily K member 3 gene DOID:10283 prostate cancer ISO RGD:1342730 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1332674 Or8k3 olfactory receptor family 8 subfamily K member 3 gene DOID:1059 intellectual disability ISO RGD:1342730 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332674 Or8k3 olfactory receptor family 8 subfamily K member 3 gene DOID:630 genetic disease ISO RGD:1342730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332675 Or5p76b olfactory receptor family 5 subfamily P member 76B gene DOID:630 genetic disease ISO RGD:1344577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332682 Or1j1 olfactory receptor family 1 subfamily J member 1 gene DOID:630 genetic disease ISO RGD:1346374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332685 Or1a1 olfactory receptor family 1 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1351186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332687 Or56a3b olfactory receptor family 56 subfamily A member 3B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351120 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1332687 Or56a3b olfactory receptor family 56 subfamily A member 3B gene DOID:630 genetic disease ISO RGD:1351120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332688 Or2t29 olfactory receptor family 2 subfamily T member 29 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1342637 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1332688 Or2t29 olfactory receptor family 2 subfamily T member 29 gene DOID:1540 parathyroid carcinoma ISO RGD:1342637 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1332688 Or2t29 olfactory receptor family 2 subfamily T member 29 gene DOID:630 genetic disease ISO RGD:1342637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332688 Or2t29 olfactory receptor family 2 subfamily T member 29 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342637 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1332706 Olr1433 olfactory receptor 1433 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343372 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1332706 Olr1433 olfactory receptor 1433 gene DOID:1540 parathyroid carcinoma ISO RGD:1343372 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1332706 Olr1433 olfactory receptor 1433 gene DOID:630 genetic disease ISO RGD:1343372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1332706 Olr1433 olfactory receptor 1433 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343372 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1332706 Olr1433 olfactory receptor 1433 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1343372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1332706 Olr1433 olfactory receptor 1433 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343372 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1332716 Or2a25 olfactory receptor family 2 subfamily A member 25 gene DOID:630 genetic disease ISO RGD:1343005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332725 Or2h2c olfactory receptor family 2 subfamily H member 2C gene DOID:11372 megacolon ISO RGD:1348875 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1332725 Or2h2c olfactory receptor family 2 subfamily H member 2C gene DOID:630 genetic disease ISO RGD:1348875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332734 Or4f6 olfactory receptor family 4 subfamily F member 6 gene DOID:630 genetic disease ISO RGD:1343983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332737 Or9a4 olfactory receptor family 9 subfamily A member 4 gene DOID:0080690 RASopathy ISO RGD:1352661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1332737 Or9a4 olfactory receptor family 9 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1352661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332737 Or9a4 olfactory receptor family 9 subfamily A member 4 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1352661 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1332740 Or7a44 olfactory receptor family 7 subfamily A member 44 gene DOID:630 genetic disease ISO RGD:1604685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332745 Or5m11 olfactory receptor family 5 subfamily M member 11 gene DOID:1059 intellectual disability ISO RGD:1343585 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332745 Or5m11 olfactory receptor family 5 subfamily M member 11 gene DOID:630 genetic disease ISO RGD:1343585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1350028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1350028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1350028 D RGD:8554872 20161220 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1350028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:1059 intellectual disability ISO RGD:1350028 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:1350028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332746 Or6b2 olfactory receptor family 6 subfamily B member 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1350028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1332767 Or51i2 olfactory receptor family 51 subfamily I member 2 gene DOID:13938 amenorrhea ISO RGD:1346805 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1332767 Or51i2 olfactory receptor family 51 subfamily I member 2 gene DOID:630 genetic disease ISO RGD:1346805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332773 Or51f2 olfactory receptor family 51 subfamily F member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317227 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1332773 Or51f2 olfactory receptor family 51 subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1317227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332775 Or6c74 olfactory receptor family 6 subfamily C member 74 gene DOID:630 genetic disease ISO RGD:1350920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332780 Or52e4 olfactory receptor family 52 subfamily E member 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353810 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1332780 Or52e4 olfactory receptor family 52 subfamily E member 4 gene DOID:630 genetic disease ISO RGD:1353810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332789 Or56a5 olfactory receptor family 56 subfamily A member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347825 D RGD:8554872 20220823 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1332789 Or56a5 olfactory receptor family 56 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1347825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332801 Or4x5 olfactory receptor family 4 subfamily X member 5 gene DOID:1059 intellectual disability ISO RGD:1350139 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332801 Or4x5 olfactory receptor family 4 subfamily X member 5 gene DOID:630 genetic disease ISO RGD:1350139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332815 Or52r1c olfactory receptor family 52 subfamily R member 1C gene DOID:0080773 delta beta-thalassemia ISO RGD:1354346 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1332815 Or52r1c olfactory receptor family 52 subfamily R member 1C gene DOID:630 genetic disease ISO RGD:1354346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332820 Or9g20 olfactory receptor family 9 subfamily G member 20 gene DOID:1059 intellectual disability ISO RGD:1342549 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332820 Or9g20 olfactory receptor family 9 subfamily G member 20 gene DOID:630 genetic disease ISO RGD:1342549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332825 Or1l4b olfactory receptor family 1 subfamily L member 4B gene DOID:630 genetic disease ISO RGD:1352858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332833 Or51e1 olfactory receptor family 51 subfamily E member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605574 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1332833 Or51e1 olfactory receptor family 51 subfamily E member 1 gene DOID:303 substance-related disorder ISO RGD:1605574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1332833 Or51e1 olfactory receptor family 51 subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1605574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332834 Or4c11 olfactory receptor family 4 subfamily C member 11 gene DOID:1059 intellectual disability ISO RGD:1354381 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332834 Or4c11 olfactory receptor family 4 subfamily C member 11 gene DOID:630 genetic disease ISO RGD:1354381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332846 Or2ag2 olfactory receptor family 2 subfamily AG member 2 gene DOID:630 genetic disease ISO RGD:1351300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332847 Or5h17 olfactory receptor family 5 subfamily H member 17 gene DOID:630 genetic disease ISO RGD:1347959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332863 Or4d5 olfactory receptor family 4 subfamily D member 5 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1332863 Or4d5 olfactory receptor family 4 subfamily D member 5 gene DOID:5419 schizophrenia ISO RGD:1343066 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1332863 Or4d5 olfactory receptor family 4 subfamily D member 5 gene DOID:630 genetic disease ISO RGD:1343066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332863 Or4d5 olfactory receptor family 4 subfamily D member 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343066 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1332863 Or4d5 olfactory receptor family 4 subfamily D member 5 gene DOID:9007661 Dwarfism ISO RGD:1343066 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1332869 Or10am5 olfactory receptor family 10 subfamily AM member 5 gene DOID:630 genetic disease ISO RGD:1346847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332872 Or2a51 olfactory receptor family 2 subfamily A member 51 gene DOID:630 genetic disease ISO RGD:1352035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332882 Or2ag1 olfactory receptor family 2 subfamily AG member 1 gene DOID:630 genetic disease ISO RGD:1351829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332903 Or52n2 olfactory receptor family 52 subfamily N member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346756 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1332909 Or10p1 olfactory receptor family 10 subfamily P member 1 gene DOID:630 genetic disease ISO RGD:1346412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332920 Or2k2 olfactory receptor family 2 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1342486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332943 Or2ak5f olfactory receptor family 2 subfamily AK member 5F gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1332943 Or2ak5f olfactory receptor family 2 subfamily AK member 5F gene DOID:1540 parathyroid carcinoma ISO RGD:1343468 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1332943 Or2ak5f olfactory receptor family 2 subfamily AK member 5F gene DOID:630 genetic disease ISO RGD:1343468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332943 Or2ak5f olfactory receptor family 2 subfamily AK member 5F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343468 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1332943 Or2ak5f olfactory receptor family 2 subfamily AK member 5F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343468 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1332944 Or1l4 olfactory receptor family 1 subfamily L member 4 gene DOID:630 genetic disease ISO RGD:1344733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332951 Or5d14 olfactory receptor family 5 subfamily D member 14 gene DOID:1059 intellectual disability ISO RGD:1350020 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332951 Or5d14 olfactory receptor family 5 subfamily D member 14 gene DOID:630 genetic disease ISO RGD:1350020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332958 Or52b2 olfactory receptor family 52 subfamily B member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347309 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1332958 Or52b2 olfactory receptor family 52 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:1347309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332965 Or5k3 olfactory receptor family 5 subfamily K member 3 gene DOID:4990 essential tremor ISO RGD:1347767 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 1332965 Or5k3 olfactory receptor family 5 subfamily K member 3 gene DOID:630 genetic disease ISO RGD:1347767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332967 Or8u3 olfactory receptor family 8 subfamily U member 3 gene DOID:1059 intellectual disability ISO RGD:1351573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332967 Or8u3 olfactory receptor family 8 subfamily U member 3 gene DOID:630 genetic disease ISO RGD:1351573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332986 Or6p1 olfactory receptor family 6 subfamily P member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347277 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1332986 Or6p1 olfactory receptor family 6 subfamily P member 1 gene DOID:630 genetic disease ISO RGD:1347277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332986 Or6p1 olfactory receptor family 6 subfamily P member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347277 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1332991 Or5m3 olfactory receptor family 5 subfamily M member 3 gene DOID:1059 intellectual disability ISO RGD:1353329 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332991 Or5m3 olfactory receptor family 5 subfamily M member 3 gene DOID:630 genetic disease ISO RGD:1353329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1332997 Or4a77c olfactory receptor family 4 subfamily A member 77C gene DOID:1059 intellectual disability ISO RGD:1343611 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1332997 Or4a77c olfactory receptor family 4 subfamily A member 77C gene DOID:630 genetic disease ISO RGD:1343611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333000 Or11a4 olfactory receptor family 11 subfamily A member 4 gene DOID:11372 megacolon ISO RGD:1346770 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1333000 Or11a4 olfactory receptor family 11 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1346770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333008 Or52a5b olfactory receptor family 52 subfamily A member 5B gene DOID:0080773 delta beta-thalassemia ISO RGD:1344467 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333008 Or52a5b olfactory receptor family 52 subfamily A member 5B gene DOID:630 genetic disease ISO RGD:1344467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333021 Or1m1 olfactory receptor family 1 subfamily M member 1 gene DOID:12849 autistic disorder ISO RGD:1350413 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1333021 Or1m1 olfactory receptor family 1 subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1350413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333022 Or6c68 olfactory receptor family 6 subfamily C member 68 gene DOID:630 genetic disease ISO RGD:1347505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333028 Or52k2 olfactory receptor family 52 subfamily K member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1349972 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333028 Or52k2 olfactory receptor family 52 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1349972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333031 Or7g12 olfactory receptor family 7 subfamily G member 12 gene DOID:12849 autistic disorder ISO RGD:1345338 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1333031 Or7g12 olfactory receptor family 7 subfamily G member 12 gene DOID:630 genetic disease ISO RGD:1345338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333039 Or10g9 olfactory receptor family 10 subfamily G member 9 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333039 Or10g9 olfactory receptor family 10 subfamily G member 9 gene DOID:5419 schizophrenia ISO RGD:1349215 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333039 Or10g9 olfactory receptor family 10 subfamily G member 9 gene DOID:630 genetic disease ISO RGD:1349215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333039 Or10g9 olfactory receptor family 10 subfamily G member 9 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349215 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333039 Or10g9 olfactory receptor family 10 subfamily G member 9 gene DOID:9007661 Dwarfism ISO RGD:1349215 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333046 Or8h7b olfactory receptor family 8 subfamily H member 7B gene DOID:1059 intellectual disability ISO RGD:1346035 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333046 Or8h7b olfactory receptor family 8 subfamily H member 7B gene DOID:630 genetic disease ISO RGD:1346035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333050 Or10q1 olfactory receptor family 10 subfamily Q member 1 gene DOID:1059 intellectual disability ISO RGD:1352906 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333050 Or10q1 olfactory receptor family 10 subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1352906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333055 Or9k2 olfactory receptor family 9 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1345121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333057 Or14c39b olfactory receptor family 14 subfamily C member 39B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333057 Or14c39b olfactory receptor family 14 subfamily C member 39B gene DOID:1540 parathyroid carcinoma ISO RGD:1353060 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333057 Or14c39b olfactory receptor family 14 subfamily C member 39B gene DOID:630 genetic disease ISO RGD:1353060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333057 Or14c39b olfactory receptor family 14 subfamily C member 39B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353060 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1333057 Or14c39b olfactory receptor family 14 subfamily C member 39B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353060 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333064 Olr1523 olfactory receptor 1523 gene DOID:0050777 Joubert syndrome ISO RGD:1346867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1333064 Olr1523 olfactory receptor 1523 gene DOID:1059 intellectual disability ISO RGD:1346867 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1333064 Olr1523 olfactory receptor 1523 gene DOID:630 genetic disease ISO RGD:1346867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333073 Or5h18 olfactory receptor family 5 subfamily H member 18 gene DOID:630 genetic disease ISO RGD:1349856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333082 Or1j4 olfactory receptor family 1 subfamily J member 4 gene DOID:630 genetic disease ISO RGD:1354380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333086 Or5ap2 olfactory receptor family 5 subfamily AP member 2 gene DOID:1059 intellectual disability ISO RGD:1350041 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333086 Or5ap2 olfactory receptor family 5 subfamily AP member 2 gene DOID:630 genetic disease ISO RGD:1350041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333098 Or2a14 olfactory receptor family 2 subfamily A member 14 gene DOID:630 genetic disease ISO RGD:1344604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333100 Or2y1h olfactory receptor family 2 subfamily Y member 1H gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333100 Or2y1h olfactory receptor family 2 subfamily Y member 1H gene DOID:1540 parathyroid carcinoma ISO RGD:1346302 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333100 Or2y1h olfactory receptor family 2 subfamily Y member 1H gene DOID:630 genetic disease ISO RGD:1346302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333100 Or2y1h olfactory receptor family 2 subfamily Y member 1H gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1346302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1333100 Or2y1h olfactory receptor family 2 subfamily Y member 1H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346302 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333103 Or1n2 olfactory receptor family 1 subfamily N member 2 gene DOID:630 genetic disease ISO RGD:1347218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333116 Or10k2 olfactory receptor family 10 subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349498 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333116 Or10k2 olfactory receptor family 10 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1349498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333116 Or10k2 olfactory receptor family 10 subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349498 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333126 Or4d10c olfactory receptor family 4 subfamily D member 10C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1333126 Or4d10c olfactory receptor family 4 subfamily D member 10C gene DOID:1059 intellectual disability ISO RGD:1348576 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333126 Or4d10c olfactory receptor family 4 subfamily D member 10C gene DOID:630 genetic disease ISO RGD:1348576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333127 Or14j1 olfactory receptor family 14 subfamily J member 1 gene DOID:11372 megacolon ISO RGD:1344262 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1333127 Or14j1 olfactory receptor family 14 subfamily J member 1 gene DOID:630 genetic disease ISO RGD:1344262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333138 Or12d14c olfactory receptor family 12 subfamily D member 14C gene DOID:11372 megacolon ISO RGD:1345064 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1333138 Or12d14c olfactory receptor family 12 subfamily D member 14C gene DOID:630 genetic disease ISO RGD:1345064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333139 Or5c1 olfactory receptor family 5 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1604145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333140 Or4a47 olfactory receptor family 4 subfamily A member 47 gene DOID:0060041 autism spectrum disorder ISO RGD:1351568 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 1333140 Or4a47 olfactory receptor family 4 subfamily A member 47 gene DOID:1059 intellectual disability ISO RGD:1351568 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333140 Or4a47 olfactory receptor family 4 subfamily A member 47 gene DOID:630 genetic disease ISO RGD:1351568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333141 Or52a5 olfactory receptor family 52 subfamily A member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1342762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333141 Or52a5 olfactory receptor family 52 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1342762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333142 Or8b4 olfactory receptor family 8 subfamily B member 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333142 Or8b4 olfactory receptor family 8 subfamily B member 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342821 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1333142 Or8b4 olfactory receptor family 8 subfamily B member 4 gene DOID:5419 schizophrenia ISO RGD:1342821 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333142 Or8b4 olfactory receptor family 8 subfamily B member 4 gene DOID:630 genetic disease ISO RGD:1342821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333142 Or8b4 olfactory receptor family 8 subfamily B member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342821 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333142 Or8b4 olfactory receptor family 8 subfamily B member 4 gene DOID:9007661 Dwarfism ISO RGD:1342821 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333144 Or5ak24 olfactory receptor family 5 subfamily AK member 24 gene DOID:1059 intellectual disability ISO RGD:1348283 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333144 Or5ak24 olfactory receptor family 5 subfamily AK member 24 gene DOID:630 genetic disease ISO RGD:1348283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333151 Or11g2 olfactory receptor family 11 subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1354303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333161 Or51s1 olfactory receptor family 51 subfamily S member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333161 Or51s1 olfactory receptor family 51 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1347151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333167 Or52n4c olfactory receptor family 52 subfamily N member 4C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352153 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1333167 Or52n4c olfactory receptor family 52 subfamily N member 4C gene DOID:630 genetic disease ISO RGD:1352153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333177 Or2j3 olfactory receptor family 2 subfamily J member 3 gene DOID:11372 megacolon ISO RGD:1353815 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1333177 Or2j3 olfactory receptor family 2 subfamily J member 3 gene DOID:630 genetic disease ISO RGD:1353815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333182 Olr1088 olfactory receptor 1088 gene DOID:1540 parathyroid carcinoma ISO RGD:1354093 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333182 Olr1088 olfactory receptor 1088 gene DOID:630 genetic disease ISO RGD:1354093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333182 Olr1088 olfactory receptor 1088 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354093 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333184 Or10x1 olfactory receptor family 10 subfamily X member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342523 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333184 Or10x1 olfactory receptor family 10 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:1342523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333184 Or10x1 olfactory receptor family 10 subfamily X member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342523 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333196 Or6c3 olfactory receptor family 6 subfamily C member 3 gene DOID:630 genetic disease ISO RGD:1343219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333218 Or51f23c-ps1 olfactory receptor family 51 subfamily F member 23C, pseudogene 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1343067 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333221 Or6ae1 olfactory receptor family 6 subfamily A member E1 gene DOID:1059 intellectual disability ISO RGD:1352757 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333221 Or6ae1 olfactory receptor family 6 subfamily A member E1 gene DOID:630 genetic disease ISO RGD:1352757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333227 Or56b6 olfactory receptor family 56 subfamily B member 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348653 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1333227 Or56b6 olfactory receptor family 56 subfamily B member 6 gene DOID:630 genetic disease ISO RGD:1348653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333253 Or1e1e olfactory receptor family 1 subfamily E member 1E gene DOID:630 genetic disease ISO RGD:1347026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333258 Or2m12 olfactory receptor family 2 subfamily M member 12 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343135 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333258 Or2m12 olfactory receptor family 2 subfamily M member 12 gene DOID:1540 parathyroid carcinoma ISO RGD:1343135 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333258 Or2m12 olfactory receptor family 2 subfamily M member 12 gene DOID:630 genetic disease ISO RGD:1343135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333258 Or2m12 olfactory receptor family 2 subfamily M member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343135 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1333258 Or2m12 olfactory receptor family 2 subfamily M member 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343135 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333264 Or10ag2 olfactory receptor family 10 subfamily AG member 2 gene DOID:1059 intellectual disability ISO RGD:1350024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333264 Or10ag2 olfactory receptor family 10 subfamily AG member 2 gene DOID:630 genetic disease ISO RGD:1350024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333276 Or10v1 olfactory receptor family 10 subfamily V member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1333276 Or10v1 olfactory receptor family 10 subfamily V member 1 gene DOID:1059 intellectual disability ISO RGD:1350461 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333276 Or10v1 olfactory receptor family 10 subfamily V member 1 gene DOID:630 genetic disease ISO RGD:1350461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333285 Or5j1 olfactory receptor family 5 subfamily J member 1 gene DOID:1059 intellectual disability ISO RGD:1354256 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333285 Or5j1 olfactory receptor family 5 subfamily J member 1 gene DOID:37 skin disease ISO RGD:1354256 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 1333285 Or5j1 olfactory receptor family 5 subfamily J member 1 gene DOID:630 genetic disease ISO RGD:1354256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333289 Or10w1 olfactory receptor family 10 subfamily W member 1 gene DOID:1059 intellectual disability ISO RGD:1349715 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333289 Or10w1 olfactory receptor family 10 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1349715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333293 Or52k1 olfactory receptor family 52 subfamily K member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345673 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333293 Or52k1 olfactory receptor family 52 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1345673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333299 Or10s1 olfactory receptor family 10 subfamily S member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333299 Or10s1 olfactory receptor family 10 subfamily S member 1 gene DOID:5419 schizophrenia ISO RGD:1349590 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333299 Or10s1 olfactory receptor family 10 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1349590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333299 Or10s1 olfactory receptor family 10 subfamily S member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349590 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333299 Or10s1 olfactory receptor family 10 subfamily S member 1 gene DOID:9007661 Dwarfism ISO RGD:1349590 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333300 Or2v2c olfactory receptor family 2 subfamily V member 2C gene DOID:630 genetic disease ISO RGD:1342510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333311 Or2h1 olfactory receptor family 2 subfamily H member 1 gene DOID:11372 megacolon ISO RGD:1353217 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1333311 Or2h1 olfactory receptor family 2 subfamily H member 1 gene DOID:630 genetic disease ISO RGD:1353217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333321 Or13c3c olfactory receptor family 13 subfamily C member 3C gene DOID:630 genetic disease ISO RGD:1354005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333333 Or1b1 olfactory receptor family 1 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:1342799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333335 Or4f7c olfactory receptor family 4 subfamily F member 7C gene DOID:630 genetic disease ISO RGD:1354367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333354 Or4c103b olfactory receptor family 4 subfamily C member 103B gene DOID:1059 intellectual disability ISO RGD:1349325 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333354 Or4c103b olfactory receptor family 4 subfamily C member 103B gene DOID:630 genetic disease ISO RGD:1349325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333361 Or6c75 olfactory receptor family 6 subfamily C member 75 gene DOID:630 genetic disease ISO RGD:1353505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333362 Or2l13 olfactory receptor family 2 subfamily L member 13 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333362 Or2l13 olfactory receptor family 2 subfamily L member 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1348735 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333362 Or2l13 olfactory receptor family 2 subfamily L member 13 gene DOID:630 genetic disease ISO RGD:1348735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333362 Or2l13 olfactory receptor family 2 subfamily L member 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348735 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1333362 Or2l13 olfactory receptor family 2 subfamily L member 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348735 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333363 Olr1057 olfactory receptor 1057 gene DOID:630 genetic disease ISO RGD:1346205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333365 Or8k1 olfactory receptor family 8 subfamily K member 16 gene DOID:1059 intellectual disability ISO RGD:1347124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333365 Or8k1 olfactory receptor family 8 subfamily K member 16 gene DOID:630 genetic disease ISO RGD:1347124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333367 Or6b1 olfactory receptor family 6 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:1351550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333368 Or6s1 olfactory receptor family 6 subfamily S member 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1333368 Or6s1 olfactory receptor family 6 subfamily S member 1 gene DOID:630 genetic disease ISO RGD:1348726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333371 Or51b6 olfactory receptor family 51 subfamily B member 6 gene DOID:630 genetic disease ISO RGD:1350324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:0080942 anauxetic dysplasia ISO RGD:1346182 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1346182 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346182 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:630 genetic disease ISO RGD:1346182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1346182 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1333374 Or13c7 olfactory receptor family 13 subfamily C member 7 gene DOID:9870 galactosemia ISO RGD:1346182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1333383 Or5au1 olfactory receptor family 5 subfamily AU member 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1333383 Or5au1 olfactory receptor family 5 subfamily AU member 1 gene DOID:630 genetic disease ISO RGD:1343321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333383 Or5au1 olfactory receptor family 5 subfamily AU member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1333391 Or10g9b olfactory receptor family 10 subfamily G member 9B gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333391 Or10g9b olfactory receptor family 10 subfamily G member 9B gene DOID:5419 schizophrenia ISO RGD:1349061 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333391 Or10g9b olfactory receptor family 10 subfamily G member 9B gene DOID:630 genetic disease ISO RGD:1349061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333391 Or10g9b olfactory receptor family 10 subfamily G member 9B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349061 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333391 Or10g9b olfactory receptor family 10 subfamily G member 9B gene DOID:9007661 Dwarfism ISO RGD:1349061 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333393 Or4m1 olfactory receptor family 4 subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1354390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333394 Or51b17 olfactory receptor family 51 subfamily B member 17 gene DOID:630 genetic disease ISO RGD:1351923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333398 Or13c25 olfactory receptor family 13 subfamily C member 25 gene DOID:630 genetic disease ISO RGD:1343666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333400 Or5m8 olfactory receptor family 5 subfamily M member 8 gene DOID:1059 intellectual disability ISO RGD:1343653 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333400 Or5m8 olfactory receptor family 5 subfamily M member 8 gene DOID:630 genetic disease ISO RGD:1343653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333427 Or10g1b olfactory receptor family 10 subfamily G member 1B gene DOID:630 genetic disease ISO RGD:1343948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333427 Or10g1b olfactory receptor family 10 subfamily G member 1B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343948 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1333428 Olr35 olfactory receptor 35 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1333428 Olr35 olfactory receptor 35 gene DOID:1059 intellectual disability ISO RGD:1348041 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333428 Olr35 olfactory receptor 35 gene DOID:630 genetic disease ISO RGD:1348041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333437 Or5t9b olfactory receptor family 5 subfamily T member 9B gene DOID:1059 intellectual disability ISO RGD:1354464 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333437 Or5t9b olfactory receptor family 5 subfamily T member 9B gene DOID:630 genetic disease ISO RGD:1354464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333439 Or4s2 olfactory receptor family 4 subfamily S member 2 gene DOID:1059 intellectual disability ISO RGD:1345934 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333439 Or4s2 olfactory receptor family 4 subfamily S member 2 gene DOID:630 genetic disease ISO RGD:1345934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333455 Or8j3 olfactory receptor family 8 subfamily J member 3 gene DOID:1059 intellectual disability ISO RGD:1342544 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333455 Or8j3 olfactory receptor family 8 subfamily J member 3 gene DOID:630 genetic disease ISO RGD:1342544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333456 Or4p4 olfactory receptor family 4 subfamily P member 4 gene DOID:1059 intellectual disability ISO RGD:1349189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333456 Or4p4 olfactory receptor family 4 subfamily P member 4 gene DOID:630 genetic disease ISO RGD:1349189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333461 Or4x13 olfactory receptor family 4 subfamily X member 13 gene DOID:1059 intellectual disability ISO RGD:1353376 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333461 Or4x13 olfactory receptor family 4 subfamily X member 13 gene DOID:630 genetic disease ISO RGD:1353376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333472 Or8k16b olfactory receptor family 8 subfamily K member 16B gene DOID:1059 intellectual disability ISO RGD:1351237 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333472 Or8k16b olfactory receptor family 8 subfamily K member 16B gene DOID:630 genetic disease ISO RGD:1351237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333473 Or5d47 olfactory receptor family 5 subfamily D member 47 gene DOID:1059 intellectual disability ISO RGD:1352687 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333473 Or5d47 olfactory receptor family 5 subfamily D member 47 gene DOID:630 genetic disease ISO RGD:1352687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333480 Or4a15 olfactory receptor family 4 subfamily A member 15 gene DOID:1059 intellectual disability ISO RGD:1348504 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333480 Or4a15 olfactory receptor family 4 subfamily A member 15 gene DOID:630 genetic disease ISO RGD:1348504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333494 Or8s5 olfactory receptor family 8 subfamily S member 5 gene DOID:11054 urinary bladder cancer ISO RGD:1351418 D RGD:11554173 20170214 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1333494 Or8s5 olfactory receptor family 8 subfamily S member 5 gene DOID:630 genetic disease ISO RGD:1351418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333496 Or1l8 olfactory receptor family 1 subfamily L member 8 gene DOID:630 genetic disease ISO RGD:1351781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333500 Or2d2 olfactory receptor family 2 subfamily D member 2 gene DOID:630 genetic disease ISO RGD:1345086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333529 Or4k1 olfactory receptor family 4 subfamily K member 1 gene DOID:630 genetic disease ISO RGD:1354130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333532 Or51l1 olfactory receptor family 51 subfamily L member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1343610 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333532 Or51l1 olfactory receptor family 51 subfamily L member 1 gene DOID:630 genetic disease ISO RGD:1343610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333547 Or52m1 olfactory receptor family 52 subfamily M member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1349652 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333547 Or52m1 olfactory receptor family 52 subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1349652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333551 Or13c9 olfactory receptor family 13 subfamily C member 9 gene DOID:630 genetic disease ISO RGD:1353189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333556 Or5m10b olfactory receptor family 5 subfamily M member 10B gene DOID:1059 intellectual disability ISO RGD:1353504 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333556 Or5m10b olfactory receptor family 5 subfamily M member 10B gene DOID:630 genetic disease ISO RGD:1353504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333560 Or52z13 olfactory receptor family 52 subfamily Z member 13 gene DOID:630 genetic disease ISO RGD:1351225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333562 Or4c123 olfactory receptor family 4 subfamily C member 123 gene DOID:1059 intellectual disability ISO RGD:1345291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333562 Or4c123 olfactory receptor family 4 subfamily C member 123 gene DOID:630 genetic disease ISO RGD:1345291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333565 Or10h1d olfactory receptor family 10 subfamily H member 1D gene DOID:630 genetic disease ISO RGD:1353311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333574 Or11h4 olfactory receptor family 11 subfamily H member 4 gene DOID:630 genetic disease ISO RGD:1345740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333575 Or5a21 olfactory receptor family 5 subfamily A member 21 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1333575 Or5a21 olfactory receptor family 5 subfamily A member 21 gene DOID:1059 intellectual disability ISO RGD:1349600 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333575 Or5a21 olfactory receptor family 5 subfamily A member 21 gene DOID:630 genetic disease ISO RGD:1349600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333578 Or4n4 olfactory receptor family 4 subfamily N member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1344920 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 1333578 Or4n4 olfactory receptor family 4 subfamily N member 4 gene DOID:1059 intellectual disability ISO RGD:1344920 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333578 Or4n4 olfactory receptor family 4 subfamily N member 4 gene DOID:630 genetic disease ISO RGD:1344920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333584 Or13g1 olfactory receptor family 13 subfamily G member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333584 Or13g1 olfactory receptor family 13 subfamily G member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349302 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333584 Or13g1 olfactory receptor family 13 subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1349302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333584 Or13g1 olfactory receptor family 13 subfamily G member 1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1333584 Or13g1 olfactory receptor family 13 subfamily G member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349302 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333595 Or9q2 olfactory receptor family 9 subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:1351092 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333595 Or9q2 olfactory receptor family 9 subfamily Q member 2 gene DOID:630 genetic disease ISO RGD:1351092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333596 Or1ad5 olfactory receptor family 1 subfamily AD member 5 gene DOID:630 genetic disease ISO RGD:1321692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333597 Or6n2 olfactory receptor family 6 subfamily N member 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1333597 Or6n2 olfactory receptor family 6 subfamily N member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1350201 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333597 Or6n2 olfactory receptor family 6 subfamily N member 2 gene DOID:630 genetic disease ISO RGD:1350201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333597 Or6n2 olfactory receptor family 6 subfamily N member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350201 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333601 Or4d6 olfactory receptor family 4 subfamily D member 6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1333601 Or4d6 olfactory receptor family 4 subfamily D member 6 gene DOID:1059 intellectual disability ISO RGD:1345921 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333601 Or4d6 olfactory receptor family 4 subfamily D member 6 gene DOID:630 genetic disease ISO RGD:1345921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333621 Or2d36 olfactory receptor family 2 subfamily D member 36 gene DOID:630 genetic disease ISO RGD:1354348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333623 Or5ar1 olfactory receptor family 5 subfamily AR member 1 gene DOID:1059 intellectual disability ISO RGD:1346704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333623 Or5ar1 olfactory receptor family 5 subfamily AR member 1 gene DOID:630 genetic disease ISO RGD:1346704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333625 Or5b99 olfactory receptor family 5 subfamily B member 99 gene DOID:1059 intellectual disability ISO RGD:1350221 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333625 Or5b99 olfactory receptor family 5 subfamily B member 99 gene DOID:630 genetic disease ISO RGD:1350221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333626 Or5k17 olfactory receptor family 5 subfamily K member 17 gene DOID:4990 essential tremor ISO RGD:1342893 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 1333626 Or5k17 olfactory receptor family 5 subfamily K member 17 gene DOID:630 genetic disease ISO RGD:1342893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333631 Or10h1 olfactory receptor family 10 subfamily H member 1 gene DOID:630 genetic disease ISO RGD:1350293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333633 Or5h25d olfactory receptor family 5 subfamily H member 25D gene DOID:630 genetic disease ISO RGD:1347228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333645 Or5l14b olfactory receptor family 5 subfamily L member 14B gene DOID:1059 intellectual disability ISO RGD:1342923 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333645 Or5l14b olfactory receptor family 5 subfamily L member 14B gene DOID:630 genetic disease ISO RGD:1342923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333656 Or1q1 olfactory receptor family 1 subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1345044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333658 Or7a41 olfactory receptor family 7 subfamily A member 41 gene DOID:630 genetic disease ISO RGD:1353918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333665 Or7g31 olfactory receptor family 7 subfamily G member 31 gene DOID:12849 autistic disorder ISO RGD:1348157 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1333665 Or7g31 olfactory receptor family 7 subfamily G member 31 gene DOID:630 genetic disease ISO RGD:1348157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333668 Or10d3 olfactory receptor family 10 subfamily D member 3 gene DOID:5419 schizophrenia ISO RGD:1354061 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333671 Or5i1 olfactory receptor family 5 subfamily I member 1 gene DOID:1059 intellectual disability ISO RGD:1351255 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333671 Or5i1 olfactory receptor family 5 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1351255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333672 Or10j3 olfactory receptor family 10 subfamily J member 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1333672 Or10j3 olfactory receptor family 10 subfamily J member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347047 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333672 Or10j3 olfactory receptor family 10 subfamily J member 3 gene DOID:630 genetic disease ISO RGD:1347047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333672 Or10j3 olfactory receptor family 10 subfamily J member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347047 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333677 Or2f1b olfactory receptor family 2 subfamily F member 1B gene DOID:630 genetic disease ISO RGD:1350512 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333697 Or52e51 olfactory receptor family 52 subfamily E member 51 gene DOID:0080773 delta beta-thalassemia ISO RGD:1346521 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333702 Or10j5 olfactory receptor family 10 subfamily J member 5 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1333702 Or10j5 olfactory receptor family 10 subfamily J member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1349251 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333702 Or10j5 olfactory receptor family 10 subfamily J member 5 gene DOID:630 genetic disease ISO RGD:1349251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333702 Or10j5 olfactory receptor family 10 subfamily J member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349251 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333714 Or2g25 olfactory receptor family 2 subfamily G member 25 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333714 Or2g25 olfactory receptor family 2 subfamily G member 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1343786 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333714 Or2g25 olfactory receptor family 2 subfamily G member 25 gene DOID:630 genetic disease ISO RGD:1343786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333714 Or2g25 olfactory receptor family 2 subfamily G member 25 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1343786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1333714 Or2g25 olfactory receptor family 2 subfamily G member 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343786 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333715 Or52h1 olfactory receptor family 52 subfamily H member 1 gene DOID:630 genetic disease ISO RGD:1344719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333720 Or51a41 olfactory receptor family 51 subfamily A member 41 gene DOID:0080773 delta beta-thalassemia ISO RGD:1348064 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333720 Or51a41 olfactory receptor family 51 subfamily A member 41 gene DOID:630 genetic disease ISO RGD:1348064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1347486 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1347486 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347486 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:630 genetic disease ISO RGD:1347486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1347486 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1333724 Or13j1 olfactory receptor family 13 subfamily J member 1 gene DOID:9870 galactosemia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1333736 Or2t47d olfactory receptor family 2 subfamily T member 47D gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1351833 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333736 Or2t47d olfactory receptor family 2 subfamily T member 47D gene DOID:1540 parathyroid carcinoma ISO RGD:1351833 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333736 Or2t47d olfactory receptor family 2 subfamily T member 47D gene DOID:630 genetic disease ISO RGD:1351833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333736 Or2t47d olfactory receptor family 2 subfamily T member 47D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351833 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1333736 Or2t47d olfactory receptor family 2 subfamily T member 47D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351833 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333740 Or8d4 olfactory receptor family 8 subfamily D member 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333740 Or8d4 olfactory receptor family 8 subfamily D member 4 gene DOID:5419 schizophrenia ISO RGD:1319573 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333740 Or8d4 olfactory receptor family 8 subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1319573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333740 Or8d4 olfactory receptor family 8 subfamily D member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319573 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333740 Or8d4 olfactory receptor family 8 subfamily D member 4 gene DOID:9007661 Dwarfism ISO RGD:1319573 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333752 Or10a3 olfactory receptor family 10 subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1351222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333777 Or2b11 olfactory receptor family 2 subfamily B member 11 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333777 Or2b11 olfactory receptor family 2 subfamily B member 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1349718 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333777 Or2b11 olfactory receptor family 2 subfamily B member 11 gene DOID:630 genetic disease ISO RGD:1349718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333777 Or2b11 olfactory receptor family 2 subfamily B member 11 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349718 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532|PMID:29611406 1333777 Or2b11 olfactory receptor family 2 subfamily B member 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349718 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333783 Or4d2b olfactory receptor family 4 subfamily D member 2B gene DOID:0050777 Joubert syndrome ISO RGD:1344303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1333783 Or4d2b olfactory receptor family 4 subfamily D member 2B gene DOID:1059 intellectual disability ISO RGD:1344303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1333783 Or4d2b olfactory receptor family 4 subfamily D member 2B gene DOID:630 genetic disease ISO RGD:1344303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333784 Or6k2 olfactory receptor family 6 subfamily K member 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1333784 Or6k2 olfactory receptor family 6 subfamily K member 2 gene DOID:10283 prostate cancer ISO RGD:1352681 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1333784 Or6k2 olfactory receptor family 6 subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1352681 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333784 Or6k2 olfactory receptor family 6 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1352681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333784 Or6k2 olfactory receptor family 6 subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352681 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333796 Or5a1 olfactory receptor family 5 subfamily A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1333796 Or5a1 olfactory receptor family 5 subfamily A member 1 gene DOID:1059 intellectual disability ISO RGD:1354277 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333796 Or5a1 olfactory receptor family 5 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1354277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333798 Or4c3 olfactory receptor family 4 subfamily C member 3 gene DOID:1059 intellectual disability ISO RGD:1342934 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333816 Or51b4 olfactory receptor family 51 subfamily B member 4 gene DOID:630 genetic disease ISO RGD:1344392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333833 Or4c10b olfactory receptor family 4 subfamily C member 10B gene DOID:1059 intellectual disability ISO RGD:1343294 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333833 Or4c10b olfactory receptor family 4 subfamily C member 10B gene DOID:5419 schizophrenia ISO RGD:1343294 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1333833 Or4c10b olfactory receptor family 4 subfamily C member 10B gene DOID:630 genetic disease ISO RGD:1343294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333835 Or52x1 olfactory receptor family 52 subfamily X member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347388 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1333835 Or52x1 olfactory receptor family 52 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:1347388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333840 Or8g17d olfactory receptor family 8 subfamily G member 17D gene DOID:0110877 holoprosencephaly 11 ISO RGD:1346948 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333840 Or8g17d olfactory receptor family 8 subfamily G member 17D gene DOID:5419 schizophrenia ISO RGD:1346948 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333840 Or8g17d olfactory receptor family 8 subfamily G member 17D gene DOID:630 genetic disease ISO RGD:1346948 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333840 Or8g17d olfactory receptor family 8 subfamily G member 17D gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346948 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333840 Or8g17d olfactory receptor family 8 subfamily G member 17D gene DOID:9007661 Dwarfism ISO RGD:1346948 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333845 Or1d2 olfactory receptor family 1 subfamily D member 2 gene DOID:630 genetic disease ISO RGD:1353920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333846 Or1x2b olfactory receptor family 1 subfamily X member 2B gene DOID:630 genetic disease ISO RGD:1352434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333853 Or5ac16 olfactory receptor family 5 subfamily AC member 16 gene DOID:10283 prostate cancer ISO RGD:1349503 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1333853 Or5ac16 olfactory receptor family 5 subfamily AC member 16 gene DOID:630 genetic disease ISO RGD:1349503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333858 Or2y1i olfactory receptor family 2 subfamily Y member 1I gene DOID:630 genetic disease ISO RGD:1606719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333859 Or8u9 olfactory receptor family 8 subfamily U member 9 gene DOID:1059 intellectual disability ISO RGD:1353375 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333859 Or8u9 olfactory receptor family 8 subfamily U member 9 gene DOID:630 genetic disease ISO RGD:1353375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333867 Or4f15 olfactory receptor family 4 subfamily F member 15 gene DOID:630 genetic disease ISO RGD:1351117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333881 Or52n1 olfactory receptor family 52 subfamily N member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348757 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1333881 Or52n1 olfactory receptor family 52 subfamily N member 1 gene DOID:630 genetic disease ISO RGD:1348757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333882 Or1j19 olfactory receptor family 1 subfamily J member 19 gene DOID:630 genetic disease ISO RGD:1347114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333888 Or1s2 olfactory receptor family 1 subfamily S member 2 gene DOID:1059 intellectual disability ISO RGD:1343888 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333888 Or1s2 olfactory receptor family 1 subfamily S member 2 gene DOID:630 genetic disease ISO RGD:1343888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333892 Or3a1 olfactory receptor family 3 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1347194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333894 Or8g30 olfactory receptor family 8 subfamily G member 30 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1352593 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1333894 Or8g30 olfactory receptor family 8 subfamily G member 30 gene DOID:5419 schizophrenia ISO RGD:1352593 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1333894 Or8g30 olfactory receptor family 8 subfamily G member 30 gene DOID:630 genetic disease ISO RGD:1352593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333894 Or8g30 olfactory receptor family 8 subfamily G member 30 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352593 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1333894 Or8g30 olfactory receptor family 8 subfamily G member 30 gene DOID:9007661 Dwarfism ISO RGD:1352593 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1333902 Or13a1 olfactory receptor family 13 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1603609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1350384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1350384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1350384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Elliptocytosis 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:630 genetic disease ISO RGD:1350384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1350384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1350384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Elliptocytosis 2 1333906 Or10z1 olfactory receptor family 10 subfamily Z member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350384 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333909 Or10a4 olfactory receptor family 10 subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1350333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333929 Or5k14 olfactory receptor family 5 subfamily K member 14 gene DOID:630 genetic disease ISO RGD:1345283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333930 Or9i1b olfactory receptor family 9 subfamily I member 1B gene DOID:1059 intellectual disability ISO RGD:1345505 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333930 Or9i1b olfactory receptor family 9 subfamily I member 1B gene DOID:630 genetic disease ISO RGD:1345505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333932 Or5as1 olfactory receptor family 5 subfamily AS member 1 gene DOID:1059 intellectual disability ISO RGD:1343270 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333932 Or5as1 olfactory receptor family 5 subfamily AS member 1 gene DOID:630 genetic disease ISO RGD:1343270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333934 Or52j3 olfactory receptor family 52 subfamily J member 3 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353752 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1333934 Or52j3 olfactory receptor family 52 subfamily J member 3 gene DOID:630 genetic disease ISO RGD:1353752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333947 Or2t35 olfactory receptor family 2 subfamily T member 35 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1354420 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333947 Or2t35 olfactory receptor family 2 subfamily T member 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1354420 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333947 Or2t35 olfactory receptor family 2 subfamily T member 35 gene DOID:630 genetic disease ISO RGD:1354420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333947 Or2t35 olfactory receptor family 2 subfamily T member 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354420 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333950 Or2f2 olfactory receptor family 2 subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1349873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333957 Or6k6 olfactory receptor family 6 subfamily K member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1333957 Or6k6 olfactory receptor family 6 subfamily K member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1351378 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333957 Or6k6 olfactory receptor family 6 subfamily K member 6 gene DOID:630 genetic disease ISO RGD:1351378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333957 Or6k6 olfactory receptor family 6 subfamily K member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351378 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1333958 Or5p52 olfactory receptor family 5 subfamily P member 52 gene DOID:630 genetic disease ISO RGD:1352607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333962 Or4c12 olfactory receptor family 4 subfamily C member 12 gene DOID:10283 prostate cancer ISO RGD:1350996 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1333962 Or4c12 olfactory receptor family 4 subfamily C member 12 gene DOID:1059 intellectual disability ISO RGD:1350996 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333962 Or4c12 olfactory receptor family 4 subfamily C member 12 gene DOID:630 genetic disease ISO RGD:1350996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333964 Or4k2 olfactory receptor family 4 subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1351442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333972 Or52d1 olfactory receptor family 52 subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1344092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333985 Or4c15 olfactory receptor family 4 subfamily C member 15 gene DOID:1059 intellectual disability ISO RGD:1352775 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1333985 Or4c15 olfactory receptor family 4 subfamily C member 15 gene DOID:630 genetic disease ISO RGD:1352775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333990 Or2t44b olfactory receptor family 2 subfamily T member 44B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1333990 Or2t44b olfactory receptor family 2 subfamily T member 44B gene DOID:1540 parathyroid carcinoma ISO RGD:1343251 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1333990 Or2t44b olfactory receptor family 2 subfamily T member 44B gene DOID:630 genetic disease ISO RGD:1343251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1333990 Or2t44b olfactory receptor family 2 subfamily T member 44B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343251 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1333990 Or2t44b olfactory receptor family 2 subfamily T member 44B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343251 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334002 Or10a2 olfactory receptor family 10 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:1342541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334014 Or7c70 olfactory receptor family 7 subfamily C member 70 gene DOID:630 genetic disease ISO RGD:1344773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334015 Or52e2 olfactory receptor family 52 subfamily E member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347048 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1334015 Or52e2 olfactory receptor family 52 subfamily E member 2 gene DOID:630 genetic disease ISO RGD:1347048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334017 Or6c1h olfactory receptor family 6 subfamily C member 1H gene DOID:4990 essential tremor ISO RGD:1342545 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 1334017 Or6c1h olfactory receptor family 6 subfamily C member 1H gene DOID:630 genetic disease ISO RGD:1342545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334032 Olr765 olfactory receptor 765 gene DOID:630 genetic disease ISO RGD:1345738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334039 Or8b3 olfactory receptor family 8 subfamily B member 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1334039 Or8b3 olfactory receptor family 8 subfamily B member 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350735 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1334039 Or8b3 olfactory receptor family 8 subfamily B member 3 gene DOID:5419 schizophrenia ISO RGD:1350735 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1334039 Or8b3 olfactory receptor family 8 subfamily B member 3 gene DOID:630 genetic disease ISO RGD:1350735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334039 Or8b3 olfactory receptor family 8 subfamily B member 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350735 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1334039 Or8b3 olfactory receptor family 8 subfamily B member 3 gene DOID:9007661 Dwarfism ISO RGD:1350735 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1334041 Or2w1 olfactory receptor family 2 subfamily W member 1 gene DOID:11372 megacolon ISO RGD:1348465 D RGD:8554872 20220823 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1334041 Or2w1 olfactory receptor family 2 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1348465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334050 Or8i2 olfactory receptor family 8 subfamily I member 2 gene DOID:1059 intellectual disability ISO RGD:1352416 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334050 Or8i2 olfactory receptor family 8 subfamily I member 2 gene DOID:630 genetic disease ISO RGD:1352416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334055 Olr1096 olfactory receptor 1096 gene DOID:10283 prostate cancer ISO RGD:1347587 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1334055 Olr1096 olfactory receptor 1096 gene DOID:12849 autistic disorder ISO RGD:1347587 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1334055 Olr1096 olfactory receptor 1096 gene DOID:630 genetic disease ISO RGD:1347587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352394 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:10283 prostate cancer ISO RGD:1352394 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1352394 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:630 genetic disease ISO RGD:1352394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352394 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1352394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1334058 Or14p1 olfactory receptor family 14 subfamily P member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352394 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334059 Or4n5 olfactory receptor family 4 subfamily N member 5 gene DOID:630 genetic disease ISO RGD:1322544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334062 Or5v1b olfactory receptor family 5 subfamily V member 1B gene DOID:11372 megacolon ISO RGD:1348304 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1334062 Or5v1b olfactory receptor family 5 subfamily V member 1B gene DOID:630 genetic disease ISO RGD:1348304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334063 Or5b12b olfactory receptor family 5 subfamily B member 12B gene DOID:1059 intellectual disability ISO RGD:1354162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334063 Or5b12b olfactory receptor family 5 subfamily B member 12B gene DOID:630 genetic disease ISO RGD:1354162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334070 Or5an1 olfactory receptor family 5 subfamily AN member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1334070 Or5an1 olfactory receptor family 5 subfamily AN member 1 gene DOID:1059 intellectual disability ISO RGD:1349496 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334070 Or5an1 olfactory receptor family 5 subfamily AN member 1 gene DOID:630 genetic disease ISO RGD:1349496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334071 Or4b1c olfactory receptor family 4 subfamily B member 1C gene DOID:1059 intellectual disability ISO RGD:1352354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334071 Or4b1c olfactory receptor family 4 subfamily B member 1C gene DOID:630 genetic disease ISO RGD:1352354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334073 Or4e2 olfactory receptor family 4 subfamily E member 5 gene DOID:630 genetic disease ISO RGD:1352705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334073 Or4e2 olfactory receptor family 4 subfamily E member 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1334081 Or52b4 olfactory receptor family 52 subfamily B member 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1316140 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1334081 Or52b4 olfactory receptor family 52 subfamily B member 4 gene DOID:630 genetic disease ISO RGD:1316140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334086 Or1f34 olfactory receptor family 1 subfamily F member 34 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1334086 Or1f34 olfactory receptor family 1 subfamily F member 34 gene DOID:10487 Hirschsprung's disease ISO RGD:1348262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1334086 Or1f34 olfactory receptor family 1 subfamily F member 34 gene DOID:1826 epilepsy ISO RGD:1348262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1334086 Or1f34 olfactory receptor family 1 subfamily F member 34 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1334086 Or1f34 olfactory receptor family 1 subfamily F member 34 gene DOID:630 genetic disease ISO RGD:1348262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334088 Or2ab1 olfactory receptor family 2 subfamily AB member 1 gene DOID:1059 intellectual disability ISO RGD:1348625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334088 Or2ab1 olfactory receptor family 2 subfamily AB member 1 gene DOID:630 genetic disease ISO RGD:1348625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334091 Or5b21 olfactory receptor family 5 subfamily B member 21 gene DOID:1059 intellectual disability ISO RGD:1345076 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334091 Or5b21 olfactory receptor family 5 subfamily B member 21 gene DOID:630 genetic disease ISO RGD:1345076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334102 Or2t6 olfactory receptor family 2 subfamily T member 6 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1343167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334102 Or2t6 olfactory receptor family 2 subfamily T member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1343167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334102 Or2t6 olfactory receptor family 2 subfamily T member 6 gene DOID:630 genetic disease ISO RGD:1343167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334102 Or2t6 olfactory receptor family 2 subfamily T member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343167 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334102 Or2t6 olfactory receptor family 2 subfamily T member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343167 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334108 Or9q1 olfactory receptor family 9 subfamily Q member 1 gene DOID:1059 intellectual disability ISO RGD:1349735 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334108 Or9q1 olfactory receptor family 9 subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1349735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334110 Olr947 olfactory receptor 947 gene DOID:630 genetic disease ISO RGD:1349043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334112 Or5t5b olfactory receptor family 5 subfamily T member 5B gene DOID:1059 intellectual disability ISO RGD:1351333 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334112 Or5t5b olfactory receptor family 5 subfamily T member 5B gene DOID:630 genetic disease ISO RGD:1351333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334127 Or51i1 olfactory receptor family 51 subfamily I member 1 gene DOID:13938 amenorrhea ISO RGD:1349575 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1334127 Or51i1 olfactory receptor family 51 subfamily I member 1 gene DOID:630 genetic disease ISO RGD:1349575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334138 Or13d1 olfactory receptor family 13 subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1350154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334144 Or4a68 olfactory receptor family 4 subfamily A member 68 gene DOID:1059 intellectual disability ISO RGD:1344335 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334144 Or4a68 olfactory receptor family 4 subfamily A member 68 gene DOID:630 genetic disease ISO RGD:1344335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334162 Or4f7b olfactory receptor family 4 subfamily F member 7B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349131 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334164 Or11l3 olfactory receptor family 11 subfamily L member 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1342706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334164 Or11l3 olfactory receptor family 11 subfamily L member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342706 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334164 Or11l3 olfactory receptor family 11 subfamily L member 3 gene DOID:630 genetic disease ISO RGD:1342706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334164 Or11l3 olfactory receptor family 11 subfamily L member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342706 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334164 Or11l3 olfactory receptor family 11 subfamily L member 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1342706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1334164 Or11l3 olfactory receptor family 11 subfamily L member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342706 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334176 Or4c105 olfactory receptor family 4 subfamily C member 105 gene DOID:1059 intellectual disability ISO RGD:1342612 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334176 Or4c105 olfactory receptor family 4 subfamily C member 105 gene DOID:4450 renal cell carcinoma ISO RGD:1342612 D RGD:11554173 20170905 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1334176 Or4c105 olfactory receptor family 4 subfamily C member 105 gene DOID:630 genetic disease ISO RGD:1342612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334188 Or8b8 olfactory receptor family 8 subfamily B member 8 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1347370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1334188 Or8b8 olfactory receptor family 8 subfamily B member 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1347370 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1334188 Or8b8 olfactory receptor family 8 subfamily B member 8 gene DOID:5419 schizophrenia ISO RGD:1347370 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1334188 Or8b8 olfactory receptor family 8 subfamily B member 8 gene DOID:630 genetic disease ISO RGD:1347370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334188 Or8b8 olfactory receptor family 8 subfamily B member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347370 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1334188 Or8b8 olfactory receptor family 8 subfamily B member 8 gene DOID:9007661 Dwarfism ISO RGD:1347370 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1334192 Or5d20 olfactory receptor family 5 subfamily D member 20 gene DOID:1059 intellectual disability ISO RGD:1348417 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334192 Or5d20 olfactory receptor family 5 subfamily D member 20 gene DOID:630 genetic disease ISO RGD:1348417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334198 Or6c76b olfactory receptor family 6 subfamily C member 76B gene DOID:630 genetic disease ISO RGD:1350278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334209 Or2a7 olfactory receptor family 2 subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1348744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334210 Or4c35 olfactory receptor family 4 subfamily C member 35 gene DOID:0060041 autism spectrum disorder ISO RGD:1353934 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 1334224 Or6y1 olfactory receptor family 6 subfamily Y member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334224 Or6y1 olfactory receptor family 6 subfamily Y member 1 gene DOID:630 genetic disease ISO RGD:1347188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334224 Or6y1 olfactory receptor family 6 subfamily Y member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347188 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334237 Or3a1e olfactory receptor family 3 subfamily A member 1E gene DOID:630 genetic disease ISO RGD:1350655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334242 Or8a1b olfactory receptor family 8 subfamily A member 1B gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1334242 Or8a1b olfactory receptor family 8 subfamily A member 1B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349349 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1334242 Or8a1b olfactory receptor family 8 subfamily A member 1B gene DOID:5419 schizophrenia ISO RGD:1349349 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1334242 Or8a1b olfactory receptor family 8 subfamily A member 1B gene DOID:630 genetic disease ISO RGD:1349349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334242 Or8a1b olfactory receptor family 8 subfamily A member 1B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349349 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1334242 Or8a1b olfactory receptor family 8 subfamily A member 1B gene DOID:9007661 Dwarfism ISO RGD:1349349 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1334246 Or1i2 olfactory receptor family 1 subfamily I member 2 gene DOID:630 genetic disease ISO RGD:1350140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334248 Or4k5 olfactory receptor family 4 subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1349816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334254 Or6c2 olfactory receptor family 6 subfamily C member 2 gene DOID:630 genetic disease ISO RGD:1604704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334263 Or10g3 olfactory receptor family 10 subfamily G member 3 gene DOID:630 genetic disease ISO RGD:1346604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334263 Or10g3 olfactory receptor family 10 subfamily G member 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1334282 Or5t16 olfactory receptor family 5 subfamily T member 16 gene DOID:1059 intellectual disability ISO RGD:1347254 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334282 Or5t16 olfactory receptor family 5 subfamily T member 16 gene DOID:630 genetic disease ISO RGD:1347254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334283 Or52l1b olfactory receptor family 52 subfamily L member 1B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352155 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1334283 Or52l1b olfactory receptor family 52 subfamily L member 1B gene DOID:630 genetic disease ISO RGD:1352155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334292 Or51g1 olfactory receptor family 51 subfamily G member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345426 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1334292 Or51g1 olfactory receptor family 51 subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1345426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334297 Or7d9 olfactory receptor family 7 subfamily D member 9 gene DOID:12849 autistic disorder ISO RGD:1346280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1334297 Or7d9 olfactory receptor family 7 subfamily D member 9 gene DOID:630 genetic disease ISO RGD:1346280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334306 Or8b12 olfactory receptor family 8 subfamily B member 12 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1334306 Or8b12 olfactory receptor family 8 subfamily B member 12 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350337 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1334306 Or8b12 olfactory receptor family 8 subfamily B member 12 gene DOID:5419 schizophrenia ISO RGD:1350337 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1334306 Or8b12 olfactory receptor family 8 subfamily B member 12 gene DOID:630 genetic disease ISO RGD:1350337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334306 Or8b12 olfactory receptor family 8 subfamily B member 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350337 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1334306 Or8b12 olfactory receptor family 8 subfamily B member 12 gene DOID:9007661 Dwarfism ISO RGD:1350337 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1334313 Or9g4 olfactory receptor family 9 subfamily G member 4 gene DOID:1059 intellectual disability ISO RGD:1349445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334313 Or9g4 olfactory receptor family 9 subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1349445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334326 Or2t44 olfactory receptor family 2 subfamily T member 44 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1351258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334326 Or2t44 olfactory receptor family 2 subfamily T member 44 gene DOID:1540 parathyroid carcinoma ISO RGD:1351258 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334326 Or2t44 olfactory receptor family 2 subfamily T member 44 gene DOID:630 genetic disease ISO RGD:1351258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334326 Or2t44 olfactory receptor family 2 subfamily T member 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351258 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334326 Or2t44 olfactory receptor family 2 subfamily T member 44 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351258 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334335 Or7g34b olfactory receptor family 7 subfamily G member 34B gene DOID:12849 autistic disorder ISO RGD:1350658 D RGD:8554872 20210504 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1334335 Or7g34b olfactory receptor family 7 subfamily G member 34B gene DOID:630 genetic disease ISO RGD:1350658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334346 Or4d11 olfactory receptor family 4 subfamily D member 11 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1334346 Or4d11 olfactory receptor family 4 subfamily D member 11 gene DOID:1059 intellectual disability ISO RGD:1351925 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334346 Or4d11 olfactory receptor family 4 subfamily D member 11 gene DOID:630 genetic disease ISO RGD:1351925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334349 Or11h6 olfactory receptor family 11 subfamily H member 6 gene DOID:630 genetic disease ISO RGD:1344961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334354 Or51q1d olfactory receptor family 51 subfamily Q member 1D gene DOID:630 genetic disease ISO RGD:1343317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334361 Or2t1 olfactory receptor family 2 subfamily T member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334361 Or2t1 olfactory receptor family 2 subfamily T member 1 gene DOID:10283 prostate cancer ISO RGD:1353113 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1334361 Or2t1 olfactory receptor family 2 subfamily T member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353113 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334361 Or2t1 olfactory receptor family 2 subfamily T member 1 gene DOID:630 genetic disease ISO RGD:1353113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334361 Or2t1 olfactory receptor family 2 subfamily T member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353113 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334361 Or2t1 olfactory receptor family 2 subfamily T member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353113 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334364 Or52e8 olfactory receptor family 52 subfamily E member 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349859 D RGD:8554872 20220823 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1334364 Or52e8 olfactory receptor family 52 subfamily E member 8 gene DOID:630 genetic disease ISO RGD:1349859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334372 Or5w11 olfactory receptor family 5 subfamily W member 11 gene DOID:1059 intellectual disability ISO RGD:1342811 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334372 Or5w11 olfactory receptor family 5 subfamily W member 11 gene DOID:630 genetic disease ISO RGD:1342811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334376 Or2c1 olfactory receptor family 2 subfamily C member 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1334376 Or2c1 olfactory receptor family 2 subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1334376 Or2c1 olfactory receptor family 2 subfamily C member 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342915 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1334376 Or2c1 olfactory receptor family 2 subfamily C member 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1334376 Or2c1 olfactory receptor family 2 subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1342915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334380 Or2l5 olfactory receptor family 2 subfamily L member 5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1347355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334380 Or2l5 olfactory receptor family 2 subfamily L member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1347355 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334380 Or2l5 olfactory receptor family 2 subfamily L member 5 gene DOID:630 genetic disease ISO RGD:1347355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334380 Or2l5 olfactory receptor family 2 subfamily L member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347355 D RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334380 Or2l5 olfactory receptor family 2 subfamily L member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347355 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334385 Or6x1 olfactory receptor family 6 subfamily X member 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1334385 Or6x1 olfactory receptor family 6 subfamily X member 1 gene DOID:5419 schizophrenia ISO RGD:1349187 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1334385 Or6x1 olfactory receptor family 6 subfamily X member 1 gene DOID:630 genetic disease ISO RGD:1349187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334385 Or6x1 olfactory receptor family 6 subfamily X member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349187 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1334385 Or6x1 olfactory receptor family 6 subfamily X member 1 gene DOID:9007661 Dwarfism ISO RGD:1349187 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1334387 Or10a48 olfactory receptor family 10 subfamily A member 48B, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1344283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334390 Or51v8b olfactory receptor family 51 subfamily V member 8B gene DOID:0080773 delta beta-thalassemia ISO RGD:1343262 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1334390 Or51v8b olfactory receptor family 51 subfamily V member 8B gene DOID:630 genetic disease ISO RGD:1343262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334397 Or51a7 olfactory receptor family 51 subfamily A member 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352941 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1334397 Or51a7 olfactory receptor family 51 subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1352941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334399 Or6f1 olfactory receptor family 6 subfamily F member 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1334399 Or6f1 olfactory receptor family 6 subfamily F member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1352611 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334399 Or6f1 olfactory receptor family 6 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1352611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334399 Or6f1 olfactory receptor family 6 subfamily F member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352611 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1334399 Or6f1 olfactory receptor family 6 subfamily F member 1 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1352611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1334399 Or6f1 olfactory receptor family 6 subfamily F member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352611 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334405 Or8h6 olfactory receptor family 8 subfamily H member 6 gene DOID:1059 intellectual disability ISO RGD:1348145 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334405 Or8h6 olfactory receptor family 8 subfamily H member 6 gene DOID:630 genetic disease ISO RGD:1348145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334411 Or56b1 olfactory receptor family 56 subfamily B member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347435 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1334411 Or56b1 olfactory receptor family 56 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:1347435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334415 Or2a5 olfactory receptor family 2 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1343457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334416 Or5b3 olfactory receptor family 5 subfamily B member 3 gene DOID:1059 intellectual disability ISO RGD:1354314 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1334416 Or5b3 olfactory receptor family 5 subfamily B member 3 gene DOID:630 genetic disease ISO RGD:1354314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334418 Or6c6b olfactory receptor family 6 subfamily C member 6B gene DOID:630 genetic disease ISO RGD:1352413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334425 Or51b6b olfactory receptor family 51 subfamily B member 6B gene DOID:13938 amenorrhea ISO RGD:1343909 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1334425 Or51b6b olfactory receptor family 51 subfamily B member 6B gene DOID:630 genetic disease ISO RGD:1343909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334431 Or4k15 olfactory receptor family 4 subfamily K member 15 gene DOID:630 genetic disease ISO RGD:1351884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334435 Or6n1 olfactory receptor family 6 subfamily N member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1334435 Or6n1 olfactory receptor family 6 subfamily N member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347518 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1334435 Or6n1 olfactory receptor family 6 subfamily N member 1 gene DOID:630 genetic disease ISO RGD:1347518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1334435 Or6n1 olfactory receptor family 6 subfamily N member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347518 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1334436 Or1a1b olfactory receptor family 1 subfamily A member 1B gene DOID:630 genetic disease ISO RGD:1348312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 13432064 Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant gene DOID:2741 bilirubin metabolic disorder IAGP D RGD:1354702|PMID:15753292 20201210 RGD 13432064 Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant gene DOID:9004898 Jaundice IAGP D RGD:1354701|PMID:20323028 20201210 RGD 13432064 Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant gene DOID:9005274 Polyuria IAGP D RGD:1354701|PMID:20323028 20201210 RGD 13432148 SS.ZUC-Leprfa-/-/Slc strain DOID:9007692 Insulin Resistance IAGP D RGD:13432147|PMID:23154293 20170921 RGD 13432148 SS.ZUC-Leprfa-/-/Slc strain DOID:9352 type 2 diabetes mellitus IAGP D RGD:13432147|PMID:23154293 20170921 RGD 13432153 Leprfa leptin receptor; fa mutant gene DOID:576 proteinuria sexual_dimorphism IAGP D RGD:7365117|PMID:20159938 20201210 RGD compared to BN 13432153 Leprfa leptin receptor; fa mutant gene DOID:9002916 Hyperphagia IAGP D RGD:628910|PMID:9843879 20201210 RGD compared to age-matched lean +/fa rats 13432153 Leprfa leptin receptor; fa mutant gene DOID:9007692 Insulin Resistance IAGP D RGD:13432147|PMID:23154293 20170921 RGD 13432153 Leprfa leptin receptor; fa mutant gene DOID:9352 type 2 diabetes mellitus IAGP D RGD:13432147|PMID:23154293 20170921 RGD 13432153 Leprfa leptin receptor; fa mutant gene DOID:9970 obesity IAGP D RGD:628581|PMID:11500530 20201210 RGD compared to heterozygous controls +/fa 13432153 Leprfa leptin receptor; fa mutant gene DOID:9970 obesity IAGP D RGD:628910|PMID:9843879 20201210 RGD compared to age-matched lean +/fa rats 13432153 Leprfa leptin receptor; fa mutant gene DOID:9970 obesity sexual_dimorphism IAGP D RGD:7365117|PMID:20159938 20201210 RGD compared to BN 13437612 SS-Adamts16em1Bj strain DOID:10763 hypertension IMP D RGD:9685162|PMID:23185005 20171010 RGD 13437612 SS-Adamts16em1Bj strain DOID:11383 cryptorchidism MODEL: spontaneous IMP D RGD:13434925|PMID:24983376 20171010 RGD 13437612 SS-Adamts16em1Bj strain DOID:11383 cryptorchidism MODEL: spontaneous IMP D RGD:38548917|PMID:32037220 20200821 RGD 13437612 SS-Adamts16em1Bj strain DOID:12336 male infertility MODEL: spontaneous IMP D RGD:13434925|PMID:24983376 20171010 RGD 13437612 SS-Adamts16em1Bj strain DOID:12336 male infertility MODEL: spontaneous IMP D RGD:38548917|PMID:32037220 20200821 RGD 13437613 Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj gene DOID:10763 hypertension IMP D RGD:9685162|PMID:23185005 20171010 RGD 13437613 Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj gene DOID:11383 cryptorchidism IMP D RGD:13434925|PMID:24983376 20171010 RGD 13437613 Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj gene DOID:11383 cryptorchidism IMP D RGD:38548917|PMID:32037220 20201210 RGD 13437613 Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj gene DOID:12336 male infertility IMP D RGD:13434925|PMID:24983376 20171010 RGD 13437613 Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj gene DOID:12336 male infertility IMP D RGD:38548917|PMID:32037220 20201210 RGD 13450922 SD-GEPR-3 strain DOID:2548 reflex epilepsy induced IAGP XCO:0000048 D RGD:13450923|PMID:29105300 20171108 RGD 13450922 SD-GEPR-3 strain DOID:7725 epilepsy with generalized tonic-clonic seizures induced IAGP XCO:0000048 D RGD:13450923|PMID:29105300 20200622 RGD 13451132 BN-Crb1m1 strain DOID:9007488 Idiopathic Juxtafoveal Retinal Telangiectasia IAGP D RGD:13451131|PMID:25878282 20171115 RGD 13451133 Crb1m1 crumbs 1, cell polarity complex component, mutant 1 gene DOID:9007488 Idiopathic Juxtafoveal Retinal Telangiectasia IAGP D RGD:13451131|PMID:25878282 20171115 RGD 13452382 SD-Tg(Htt*) strain DOID:12858 Huntington's disease MODEL: spontaneous IMP D RGD:13452381|PMID:12620967 20171117 RGD 13464319 Hcn1A354V hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; A354V mutant gene DOID:9000495 Tremor IAGP D RGD:11060746|PMID:25970616 20180103 RGD 13464320 STOCK Aspaem34Kyo Hcn1A354V/Kyo strain DOID:9000495 Tremor IMP D RGD:13464274|PMID:27026062 20180103 RGD 13464329 FPL/Iet Fused pulmonary lobes, FPL strain DOID:0111407 Fraser syndrome 2 IAGP D RGD:126781714|PMID:23336369 20210416 RGD 13464330 Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant gene DOID:0111407 Fraser syndrome 2 IAGP D RGD:13464328|PMID:21756877 20180103 RGD 13506737 GK strain DOID:9002188 Hypoinsulinemia IAGP D RGD:631853|PMID:12783625 20191126 RGD 13506737 GK strain DOID:9003139 Cardiac Fibrosis IAGP D RGD:631853|PMID:12783625 20191126 RGD 13506737 GK strain DOID:9003936 Cardiomegaly IAGP D RGD:631853|PMID:12783625 20191126 RGD 13506737 GK strain DOID:9351 diabetes mellitus IAGP D RGD:13513908|PMID:25903955 20191126 RGD 13506737 GK strain DOID:9351 diabetes mellitus IAGP D RGD:631853|PMID:12783625 20191126 RGD 13506738 GK/Par strain DOID:9352 type 2 diabetes mellitus susceptibility IAGP D RGD:13506736|PMID:2010050 20180209 RGD compared to Wistar 13506739 GK/Jcl strain DOID:9351 diabetes mellitus IAGP D RGD:13506789|PMID:26447526 20191126 RGD 13506739 GK/Jcl strain DOID:9351 diabetes mellitus IAGP D RGD:13592596|PMID:19966469 20191126 RGD 13508588 WI Wistar rat strain DOID:9352 type 2 diabetes mellitus MODEL: control IAGP D RGD:13506736|PMID:2010050 20200318 RGD compared to GK/Par 13513909 SD-Tg(Ren2)27-/- strain DOID:10763 hypertension MODEL: control IMP D RGD:13513906|PMID:16882881 20200214 RGD compared to SD-Tg(Ren2)27+/- 13513909 SD-Tg(Ren2)27-/- strain DOID:9004616 Left Ventricular Hypertrophy MODEL: control IMP D RGD:13513906|PMID:16882881 20200228 RGD compared to SD-Tg(Ren2)27+/- strain 13524863 LEC/Crlj Long Evans Cinnamon strain DOID:3753 Hermansky-Pudlak syndrome IAGP D RGD:2324690|PMID:19897744 20180501 RGD 13524998 UPL strain DOID:10629 microphthalmia IAGP D RGD:727242|PMID:8282038 20180502 RGD 13524998 UPL strain DOID:83 cataract IAGP D RGD:727242|PMID:8282038 20180502 RGD 13524999 Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas gene DOID:83 cataract IAGP D RGD:629571|PMID:12356818 20180502 RGD 13525002 Gunn rats strain DOID:2383 neonatal jaundice treatment IAGP D RGD:150520175|PMID:8900123 20211101 RGD compared to control rats 13525002 Gunn rats strain DOID:2741 bilirubin metabolic disorder treatment IAGP D RGD:150520175|PMID:8900123 20211101 RGD compared to control rats 1354580 Scort1 Serum corticosterone level QTL 1 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354581 Bp247 Blood pressure QTL 247 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354582 Stl11 Serum triglyceride level QTL 11 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:737686|PMID:14724732 19990101 RGD 1354583 Despr3 Despair related QTL3 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354584 Despr6 Despair related QTL 6 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354585 Eae18a Experimental allergic encephalomyelitis QTL 18a qtl DOID:2377 multiple sclerosis QTM D RGD:1302437|PMID:15240732 19990101 RGD 1354585 Eae18a Experimental allergic encephalomyelitis QTL 18a qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis QTM D RGD:1302437|PMID:15240732 19990101 RGD 1354586 Despr1 Despair related QTL 1 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354587 Kidm21 Kidney mass QTL 21 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354588 Bvd4 Brain ventricular dilatation QTL 4 qtl DOID:10908 hydrocephalus QTM D RGD:1302890|PMID:15473982 19990101 RGD 1354589 Bw31 Body weight QTL 31 qtl DOID:9970 obesity IDA D RGD:1302893|PMID:15452030 19990101 RGD 1354590 Despr11 Despair related QTL 11 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354591 Cm36 Cardiac mass QTL 36 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354591 Cm36 Cardiac mass QTL 36 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354592 Rf50 Renal function QTL 50 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354593 Stl12 Serum triglyceride level QTL 12 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:737686|PMID:14724732 19990101 RGD 1354594 Despr10 Despair related QTL 10 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354595 Despr4 Despair related QTL 4 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354596 Bw32 Body weight QTL 32 qtl DOID:9970 obesity IDA D RGD:1302893|PMID:15452030 19990101 RGD 1354597 Kidm13 Kidney mass QTL 13 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354598 Srn6 Serum renin concentration QTL 6 qtl DOID:1287 cardiovascular system disease IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354598 Srn6 Serum renin concentration QTL 6 qtl DOID:557 kidney disease IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354598 Srn6 Serum renin concentration QTL 6 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354599 Bw29 Body weight QTL 29 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354600 Salc2 Saline consumption QTL 2 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354601 Slep1 Serum leptin concentration QTL 1 qtl DOID:9970 obesity IDA D RGD:737686|PMID:14724732 19990101 RGD 1354602 Bw35 Body weight QTL 35 qtl DOID:9970 obesity IDA D RGD:1302893|PMID:15452030 19990101 RGD 1354603 Bp243 Blood pressure QTL 243 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354603 Bp243 Blood pressure QTL 243 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354604 Bw36 Body weight QTL 36 qtl DOID:9970 obesity IDA D RGD:1302893|PMID:15452030 19990101 RGD 1354605 Rf48 Renal function QTL 48 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354606 Bp246 Blood pressure QTL 246 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354607 Gmadr1 Adrenal mass QTL 1 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354607 Gmadr1 Adrenal mass QTL 1 qtl DOID:9553 adrenal gland disease IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354608 Cm33 Cardiac mass QTL 33 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354608 Cm33 Cardiac mass QTL 33 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354609 Niddm62 Non-insulin dependent diabetes mellitus QTL 62 qtl DOID:2018 hyperinsulinism IAGP D RGD:1302801|PMID:15266047 19990101 RGD 1354609 Niddm62 Non-insulin dependent diabetes mellitus QTL 62 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:1302801|PMID:15266047 19990101 RGD 1354610 Bw34 Body weight QTL 34 qtl DOID:9970 obesity IDA D RGD:1302893|PMID:15452030 19990101 RGD 1354611 Despr2 Despair related QTL 2 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354612 Foco1 Food consumption QTL 1 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354613 Kidm14 Kidney mass QTL 14 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354615 Cm32 Cardiac mass QTL 32 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354615 Cm32 Cardiac mass QTL 32 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354616 Despr12 Despair related QTL 12 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354617 Bp240 Blood pressure QTL 240 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354617 Bp240 Blood pressure QTL 240 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354618 Kidm15 Kidney mass QTL 15 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354619 Bp242 Blood pressure QTL 242 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354619 Bp242 Blood pressure QTL 242 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354620 Kidm19 Kidney mass QTL 19 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354621 Rf47 Renal function QTL 47 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354622 Kidm16 Kidney mass QTL 16 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354623 Rf46 Renal function QTL 46 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354624 Cm35 Cardiac mass QTL35 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354624 Cm35 Cardiac mass QTL35 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354625 Despr7 Despair related QTL 7 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354626 Bvd1 Brain ventricular dilatation QTL 1 qtl DOID:10908 hydrocephalus QTM D RGD:1302890|PMID:15473982 19990101 RGD 1354627 Despr14 Despair related QTL 14 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354628 Stl13 Serum triglyceride level QTL 13 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354628 Stl13 Serum triglyceride level QTL 13 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354628 Stl13 Serum triglyceride level QTL 13 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354629 Scl31 Serum cholesterol level QTL 31 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354629 Scl31 Serum cholesterol level QTL 31 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354630 Cm34 Cardiac mass QTL 34 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354630 Cm34 Cardiac mass QTL 34 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354631 Swd2 Spike wave discharge measurement QTL 2 qtl DOID:1825 childhood absence epilepsy QTM D RGD:1302436|PMID:15270755 19990101 RGD 1354632 Scl29 Serum cholesterol level QTL 29 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:737686|PMID:14724732 19990101 RGD 1354633 Bw28 Body weight QTL 28 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354634 Kidm12 Kidney mass QTL 12 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354635 Bp245 Blood pressure QTL 245 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354635 Bp245 Blood pressure QTL 245 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354637 Scl30 Serum cholesterol level QTL 30 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354637 Scl30 Serum cholesterol level QTL 30 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354638 Insul1 Insulin level QTL 1 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354639 Spl5 Serum phospholipid level QTL 5 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354640 Scl32 Serum cholesterol level QTL 32 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354640 Scl32 Serum cholesterol level QTL 32 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354641 Bvd2 Brain ventricular dilatation QTL 2 qtl DOID:10908 hydrocephalus QTM D RGD:1302890|PMID:15473982 19990101 RGD 1354642 Despr15 Despair related QTL 15 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354643 Foco2 Food consumption QTL 2 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354644 Spl4 Serum phospholipid level QTL 4 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354645 Swd1 Spike wave discharge measurement QTL 1 qtl DOID:1825 childhood absence epilepsy QTM D RGD:1302436|PMID:15270755 19990101 RGD 1354646 Kidm18 Kidney mass QTL 18 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354647 Despr8 Despair related QTL 8 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354648 Bp239 Blood pressure QTL 239 qtl DOID:10763 hypertension IAGP D RGD:629612|PMID:9260980 19990101 RGD 1354649 Kidm17 Kidney mass QTL 17 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354650 Despr5 Despair related QTL 5 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354652 Kidm20 Kidney mass QTL 20 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354653 Despr9 Despair related QTL 9 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354654 Spl7 Serum phospholipid level QTL 7 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354655 Bp241 Blood pressure QTL 241 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354655 Bp241 Blood pressure QTL 241 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354656 Bvd3 Brain ventricular dilatation QTL 3 qtl DOID:10908 hydrocephalus QTM D RGD:1302890|PMID:15473982 19990101 RGD 1354657 Despr13 Despair related QTL 13 qtl DOID:1596 depressive disorder IAGP D RGD:1302894|PMID:15457344 19990101 RGD 1354658 Spl8 Serum phospholipid level QTL 8 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354659 Scl68 Serum cholesterol level QTL 68 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354660 Salc1 Saline consumption QTL 1 qtl DOID:9008622 Adrenal Insufficiency IAGP D RGD:1302889|PMID:15252022 19990101 RGD 1354661 Bw33 Body weight QTL 33 qtl DOID:9970 obesity IDA D RGD:1302893|PMID:15452030 19990101 RGD 1354662 Rf49 Renal function QTL 49 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354663 Bvd5 Brain ventricular dilatation QTL 5 qtl DOID:10908 hydrocephalus QTM D RGD:1302890|PMID:15473982 19990101 RGD 1354664 Slep2 Serum leptin concentration QTL 2 qtl DOID:9970 obesity IDA D RGD:737686|PMID:14724732 19990101 RGD 1354665 Stl10 Serum triglyceride level QTL 10 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:737686|PMID:14724732 19990101 RGD 1354666 Bp244 Blood pressure QTL 244 qtl DOID:10763 hypertension IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1354666 Bp244 Blood pressure QTL 244 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1302893|PMID:15452030 19990101 RGD 1357172 WF.BBDR-(D4Arb29-D4Rat44)/Wor strain DOID:9744 type 1 diabetes mellitus penetrance IAGP XCO:0000231,XCO:0000235 D RGD:1304485|PMID:12401717 19990101 RGD 1357177 F344.DR(DP)-(D4Mit6-D4Mit24)/Rhw strain DOID:614 lymphopenia IAGP D RGD:1303385|PMID:14624755 19990101 RGD 1357178 CD Cohen diabetic rat strain DOID:10763 hypertension MODEL: control IAGP D RGD:1354689|PMID:14643580 20200129 RGD compared to CRDH strain 1357178 CD Cohen diabetic rat strain DOID:10763 hypertension treatment IAGP XCO:0000212,XCO:0000211,XCO:0000658 D RGD:1354518|PMID:8467325 19990101 RGD 1357178 CD Cohen diabetic rat strain DOID:10787 premature menopause susceptibility IAGP XCO:0000094 D RGD:1354519|PMID:6365715 20200129 RGD 1357178 CD Cohen diabetic rat strain DOID:10787 premature menopause treatment IAGP XCO:0000092 D RGD:1354519|PMID:6365715 20201117 RGD 1357178 CD Cohen diabetic rat strain DOID:1312 focal segmental glomerulosclerosis IAGP XCO:0000212,XCO:0000211 D RGD:1354520 19990101 RGD 1357178 CD Cohen diabetic rat strain DOID:1312 focal segmental glomerulosclerosis MODEL: induced IAGP XCO:0000212,XCO:0000211 D RGD:18937003|PMID:2134214 20200129 RGD compared to normal diet CD 1357178 CD Cohen diabetic rat strain DOID:1591 renovascular hypertension MODEL: induced IAGP XCO:0000212,XCO:0000211,XCO:0000662 D RGD:1354518|PMID:8467325 20200129 RGD 1357178 CD Cohen diabetic rat strain DOID:1591 renovascular hypertension MODEL: induced IAGP XCO:0000212,XCO:0000211,XCO:0000662 D RGD:1354520 20200129 RGD 1357178 CD Cohen diabetic rat strain DOID:1591 renovascular hypertension treatment IAGP XCO:0000658 D RGD:1354518|PMID:8467325 20200402 RGD 1357178 CD Cohen diabetic rat strain DOID:4195 hyperglycemia IAGP XCO:0000212,XCO:0000211 D RGD:1354520 19990101 RGD 1357178 CD Cohen diabetic rat strain DOID:4195 hyperglycemia MODEL: induced IAGP XCO:0000212,XCO:0000211 D RGD:18937003|PMID:2134214 20200129 RGD compared to normal diet CD 1357178 CD Cohen diabetic rat strain DOID:9352 type 2 diabetes mellitus MODEL: induced IAGP XCO:0000212,XCO:0000211 D RGD:1354520 19990101 RGD 1357181 CDR/Ygl strain DOID:9005643 Experimental Diabetes Mellitus MODEL: control IAGP XCO:0000452|XCO:0000212|XCO:0000211 D RGD:1626640|PMID:17213368 20070816 RGD compared to CDS/Ygl, on diabetogenic diet 1357181 CDR/Ygl strain DOID:9351 diabetes mellitus MODEL: control IAGP XCO:0000452|XCO:0000212|XCO:0000211 D RGD:1626640|PMID:17213368 20200131 RGD compared to CDS/Ygl 1357184 Crl:ZUC-Leprfa Zucker rats strain DOID:9352 type 2 diabetes mellitus IAGP D RGD:1354693|PMID:15319354 19990101 RGD 1357186 Gunn-Ugt1a1j/BluHsd Gunn rat strain DOID:2741 bilirubin metabolic disorder IAGP D RGD:1354702|PMID:15753292 19990101 RGD 1357186 Gunn-Ugt1a1j/BluHsd Gunn rat strain DOID:9004898 Jaundice IAGP D RGD:1354701|PMID:20323028 19990101 RGD 1357186 Gunn-Ugt1a1j/BluHsd Gunn rat strain DOID:9005274 Polyuria IAGP D RGD:1354701|PMID:20323028 20200414 RGD 1357189 SS.LEW-(D8Rat56-D8Rat51)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20131211 RGD 1357191 CDS/Ygl Cohen diabetic-sensitive rat strain DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 1357191 CDS/Ygl Cohen diabetic-sensitive rat strain DOID:9005643 Experimental Diabetes Mellitus severity IAGP XCO:0000014 D RGD:8552897|PMID:24192394 20200131 RGD sexual dimorphism 1357191 CDS/Ygl Cohen diabetic-sensitive rat strain DOID:9005643 Experimental Diabetes Mellitus severity IAGP XCO:0000452|XCO:0000212|XCO:0000211 D RGD:1626640|PMID:17213368 20070816 RGD compared to CDR/Ygl, on diabetogenic diet 1357191 CDS/Ygl Cohen diabetic-sensitive rat strain DOID:9351 diabetes mellitus MODEL: induced IAGP XCO:0000014 D RGD:8552897|PMID:24192394 20200131 RGD compared to SBN/Ygl 1357191 CDS/Ygl Cohen diabetic-sensitive rat strain DOID:9351 diabetes mellitus MODEL: induced IAGP XCO:0000452|XCO:0000212|XCO:0000211 D RGD:1626640|PMID:17213368 20200131 RGD compared to CDR/Ygl 1357192 WF.BBDR-(D4Got39-D4Rat44)/Wor strain DOID:9744 type 1 diabetes mellitus penetrance IAGP XCO:0000231,XCO:0000235 D RGD:1304485|PMID:12401717 19990101 RGD 1357194 WF.BBDR-(D4Rat96-D4Rat44)/Wor strain DOID:9744 type 1 diabetes mellitus penetrance IAGP XCO:0000231,XCO:0000235 D RGD:1304485|PMID:12401717 19990101 RGD 1357194 WF.BBDR-(D4Rat96-D4Rat44)/Wor strain DOID:9744 type 1 diabetes mellitus penetrance IAGP XCO:0000231,XCO:0000235 D RGD:1600776|PMID:17376830 20200225 RGD 1357196 WF.BBDR-(D4Arb29-D4Rat265)/Wor strain DOID:9744 type 1 diabetes mellitus penetrance IAGP XCO:0000231,XCO:0000235 D RGD:1304485|PMID:12401717 19990101 RGD 1357335 Bw39 Body weight QTL 39 qtl DOID:9970 obesity IDA D RGD:69707|PMID:9530522 19990101 RGD 1357336 Gluco6 Glucose level QTL 6 qtl DOID:10603 glucose intolerance IAGP D RGD:619533|PMID:12016513 19990101 RGD 1357336 Gluco6 Glucose level QTL 6 qtl DOID:9007692 Insulin Resistance IAGP D RGD:619533|PMID:12016513 19990101 RGD 1357337 Gluco3 Glucose level QTL 3 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:61078|PMID:9171835 19990101 RGD 1357337 Gluco3 Glucose level QTL 3 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:61078|PMID:9171835 19990101 RGD 1357338 Stl17 Serum triglyceride level QTL 17 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357339 Stl14 Serum triglyceride level QTL 14 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357339 Stl14 Serum triglyceride level QTL 14 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357340 Bp250 Blood pressure QTL 250 qtl DOID:10763 hypertension IAGP D RGD:619625|PMID:9607182 19990101 RGD 1357341 Gluco5 Glucose level QTL 5 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:61078|PMID:9171835 19990101 RGD 1357341 Gluco5 Glucose level QTL 5 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:61078|PMID:9171835 19990101 RGD 1357342 Bw40 Body weight QTL 40 qtl DOID:9970 obesity IDA D RGD:69707|PMID:9530522 19990101 RGD 1357343 Gluco4 Glucose level QTL 4 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:61078|PMID:9171835 19990101 RGD 1357343 Gluco4 Glucose level QTL 4 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:61078|PMID:9171835 19990101 RGD 1357344 Bp249 Blood pressure QTL 249 qtl DOID:10763 hypertension IAGP D RGD:619626|PMID:9096100 19990101 RGD 1357396 Bw44 Body weight QTL 44 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357396 Bw44 Body weight QTL 44 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357397 Bw41 Body weight QTL 41 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357398 Slep3 Serum leptin concentration QTL 3 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357399 Bw45 Body weight QTL 45 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357399 Bw45 Body weight QTL 45 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357400 Bw62 Body weight QTL62 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357401 Bw43 Body weight QTL 43 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357401 Bw43 Body weight QTL 43 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357402 Bw46 Body weight QTL 46 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357402 Bw46 Body weight QTL 46 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357403 Slep4 Serum leptin concentration QTL 4 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357404 Bw42 Body weight QTL 42 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357168|PMID:11374884 19990101 RGD 1357404 Bw42 Body weight QTL 42 qtl DOID:9970 obesity IDA D RGD:1357168|PMID:11374884 19990101 RGD 1357959 FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi strain DOID:576 proteinuria IAGP D RGD:1357409|PMID:15758045 19990101 RGD compared to BN 1357959 FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi strain DOID:9001542 Albuminuria IAGP D RGD:1357409|PMID:15758045 19990101 RGD compared to BN 1357980 BB.SHR-(D4Got41-Tacr1)/K strain DOID:14221 abdominal obesity-metabolic syndrome 1 IAGP D RGD:1334440|PMID:15173549 19990101 RGD compared to BB.SHR-(D4Got41-D4Rat171)/K and BB.SHR-(D4Got41-Gimap5)/K 1357990 Ael1 Aortic elastin QTL 1 qtl DOID:1287 cardiovascular system disease IAGP D RGD:1334448|PMID:15668357 19990101 RGD 1357991 Ael2 Aortic elastin QTL 2 qtl DOID:1287 cardiovascular system disease IAGP D RGD:1334448|PMID:15668357 19990101 RGD 1358112 WKY/NCrl strain DOID:10763 hypertension MODEL: control IAGP D RGD:27095952|PMID:17551266 20200831 RGD compared to SHRSP/A3NCrl 1358112 WKY/NCrl strain DOID:2921 glomerulonephritis susceptibility IAGP XCO:0000255 D RGD:2293335|PMID:16482158 20080528 RGD compared to LEW, BN 1358112 WKY/NCrl strain DOID:576 proteinuria MODEL: induced IAGP D RGD:2312387|PMID:19448344 20090812 RGD induced by anti-GBM monoclonal antibody, compared to DA/Slc 1358112 WKY/NCrl strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 1358153 COP/CrCrl strain DOID:12700 hyperprolactinemia induced IAGP XCO:0000092 D RGD:1358963|PMID:10688907 20200327 RGD 1358153 COP/CrCrl strain DOID:9002221 Hyperplasia induced IAGP XCO:0000092 D RGD:1358963|PMID:10688907 20200327 RGD lobuloalveolar hyperplasia 1358153 COP/CrCrl strain DOID:9002234 Pituitary Neoplasms induced IAGP XCO:0000295 D RGD:1358974|PMID:10342874 20200313 RGD 1358153 COP/CrCrl strain DOID:9008939 Breast Neoplasms MODEL: control IAGP XCO:0000092 D RGD:2292503|PMID:18420736 20200710 RGD 1358162 SS-Chr 12BN/Mcwi strain DOID:10763 hypertension MODEL: control IAGP XCO:0000022 D RGD:8693701|PMID:25001272 20210118 RGD compared to congenics with SS Chr12 alleles 1358162 SS-Chr 12BN/Mcwi strain DOID:9001542 Albuminuria MODEL: control IAGP XCO:0000022 D RGD:8693701|PMID:25001272 20210118 RGD compared to congenics with SS Chr12 alleles 1358162 SS-Chr 12BN/Mcwi strain DOID:9001542 Albuminuria induced IAGP XCO:0000022 D RGD:2300225|PMID:18653478 20080910 RGD compared to SS/JrHsdMcwi 1358162 SS-Chr 12BN/Mcwi strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2301186|PMID:18786441 20081119 RGD 1358171 SS-Chr 17BN/Mcwi strain DOID:9001542 Albuminuria induced IAGP XCO:0000022 D RGD:2300225|PMID:18653478 20080910 RGD compared to SS/JrHsdMcwi 1358177 SS.MNS-(D2Chm25-D2Mit14)/Ayd strain DOID:9006024 Hypotension MODEL: induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20131206 RGD compared to parental SS/Jr 1358178 SS-Chr 10BN/Mcwi strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2301186|PMID:18786441 20081119 RGD 1358185 Ept6 Estrogen-induced pituitary tumorigenesis QTL 6 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:1334449|PMID:15687265 19990101 RGD 1358186 Ept2 Estrogen-induced pituitary tumorigenesis QTL 2 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:1334449|PMID:15687265 19990101 RGD 1358187 Emca1 Estrogen-induced mammary cancer QTL 1 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1358124|PMID:15611180 19990101 RGD 1358188 Ept9 Estrogen-induced pituitary tumorigenesis QTL 9 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:1334449|PMID:15687265 19990101 RGD 1358189 Cstrr1 Cold stress response QTL 1 qtl DOID:10763 hypertension IAGP D RGD:1302892|PMID:15480093 19990101 RGD 1358189 Cstrr1 Cold stress response QTL 1 qtl DOID:11465 autonomic nervous system disease IAGP D RGD:1302892|PMID:15480093 19990101 RGD 1358190 Ept1 Estrogen-induced pituitary tumorigenesis QTL 1 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:1334449|PMID:15687265 19990101 RGD 1358191 Ept10 Estrogen-induced pituitary tumorigenesis QTL 10 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:1334449|PMID:15687265 19990101 RGD 1358192 Ept13 Estrogen-induced pituitary tumorigenesis QTL 13 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:1334449|PMID:15687265 19990101 RGD 1358193 Emca2 Estrogen-induced mammary cancer QTL 2 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1358124|PMID:15611180 20120905 RGD 1358200 Insglur2 Insulin/glucose ratio QTL 2 qtl DOID:9007692 Insulin Resistance IAGP D RGD:619533|PMID:12016513 19990101 RGD 1358201 Gluco12 Glucose level QTL12 qtl DOID:9007692 Insulin Resistance IAGP D RGD:1357415|PMID:15752738 19990101 RGD 1358202 Gluco11 Glucose level QTL 11 qtl DOID:9007692 Insulin Resistance IAGP D RGD:1357415|PMID:15752738 19990101 RGD 1358203 Stl19 Serum triglyceride level QTL 19 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:1357415|PMID:15752738 19990101 RGD 1358203 Stl19 Serum triglyceride level QTL 19 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1357415|PMID:15752738 19990101 RGD 1358204 Insglur1 Insulin/glucose ratio QTL 1 qtl DOID:9007692 Insulin Resistance IAGP D RGD:619533|PMID:12016513 19990101 RGD 1358258 RCS/LavRrrc royal college of surgeons rat strain DOID:8466 retinal degeneration IAGP D RGD:632096|PMID:1164921 20200421 RGD 1358292 Cm37 Cardiac mass QTL 37 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1334448|PMID:15668357 19990101 RGD 1358295 Aocep1 Aortic cell protein QTL 1 qtl DOID:1287 cardiovascular system disease IAGP D RGD:1334448|PMID:15668357 19990101 RGD 1358296 Ael3 Aortic elastin QTL 3 qtl DOID:1287 cardiovascular system disease IAGP D RGD:1334448|PMID:15668357 19990101 RGD 1358300 SD-Tg(Rho*P23H)3Lav strain DOID:8466 retinal degeneration treatment IMP D RGD:13208815|PMID:16822506 20170817 RGD 1358302 SD-Tg(Rho*S334X)3Lav strain DOID:8466 retinal degeneration MODEL:spontaneous IMP D RGD:13208816|PMID:20127257 20170817 RGD mouse transgene in rat model 1358302 SD-Tg(Rho*S334X)3Lav strain DOID:8466 retinal degeneration MODEL:spontaneous IMP D RGD:13208818|PMID:21147100 20170817 RGD mouse transgene in rat model 1358303 SD-Tg(Rho*S334X)4Lav strain DOID:8466 retinal degeneration IMP D RGD:12802340|PMID:22432009 20170817 RGD 1358304 SD-Tg(Rho*S334X)5Lav strain DOID:8466 retinal degeneration disease_progression IMP D RGD:13208818|PMID:21147100 20170817 RGD mouse transgene in rat model 1358885 Bp251 Blood pressure QTL 251 qtl DOID:10763 hypertension QTM D RGD:1303389|PMID:12545249 19990101 RGD 1358886 Bp260 Blood pressure QTL 260 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358887 Bw50 Body weight QTL 50 qtl DOID:9970 obesity IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358888 Bp264 Blood pressure QTL 264 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358889 Bp261 Blood pressure QTL 261 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358890 Bp259 Blood pressure QTL 259 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358891 Bp265 Blood pressure QTL 265 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358892 Kidm26 Kidney mass QTL 26 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358893 Bp263 Blood pressure QTL 263 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358894 Kidm24 Kidney mass QTL 24 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358895 Bp254 Blood pressure QTL 254 qtl DOID:10763 hypertension QTM D RGD:1303389|PMID:12545249 19990101 RGD 1358896 Bp262 Blood pressure QTL 262 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358898 Bp255 Blood pressure QTL 255 qtl DOID:10763 hypertension QTM D RGD:1303389|PMID:12545249 19990101 RGD 1358899 Kidm23 Kidney mass QTL 23 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358900 Bw48 Body weight QTL 48 qtl DOID:9970 obesity IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358901 Cm38 Cardiac mass QTL 38 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358902 Bw47 Body weight QTL 47 qtl DOID:9970 obesity IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358903 Bp252 Blood pressure QTL 252 qtl DOID:10763 hypertension QTM D RGD:1303389|PMID:12545249 19990101 RGD 1358904 Cm39 Cardiac mass QTL 39 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358905 Hrtrt17 Heart rate QTL 17 qtl DOID:114 heart disease IAGP D RGD:1358133|PMID:9286932 19990101 RGD 1358906 Bp253 Blood pressure QTL 253 qtl DOID:10763 hypertension QTM D RGD:1303389|PMID:12545249 19990101 RGD 1358907 Cm40 Cardiac mass QTL 40 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358908 Bw49 Body weight QTL 49 qtl DOID:9970 obesity IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358909 Kidm25 Kidney mass QTL 25 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358910 Kidm27 Kidney mass QTL 27 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358911 Kidm28 Kidney mass QTL 28 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358912 Bw51 Body weight QTL 51 qtl DOID:9970 obesity IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358913 Cm41 Cardiac mass QTL 41 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358914 Bp266 Blood pressure QTL 266 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358916 Kidm22 Kidney mass QTL 22 qtl DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358917 Cm42 Cardiac mass QTL 42 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1303386|PMID:14640890 19990101 RGD 1358918 W-Plp1md/Nya W-Plp1md strain DOID:11832 visual epilepsy IAGP D RGD:1358781|PMID:2479544 20170412 RGD 1358918 W-Plp1md/Nya W-Plp1md strain DOID:11832 visual epilepsy IAGP D RGD:1358782|PMID:434110 19990101 RGD 1358918 W-Plp1md/Nya W-Plp1md strain DOID:3213 demyelinating disease MODEL: spontaneous IAGP D RGD:1358782|PMID:434110 20200916 RGD sexual dimorphism, males 1358918 W-Plp1md/Nya W-Plp1md strain DOID:3213 demyelinating disease MODEL:spontaneous IAGP D RGD:1358781|PMID:2479544 20170412 RGD sexual dimorphism, males 1358923 LE-Mbpmd strain DOID:3213 demyelinating disease IAGP D RGD:1358763|PMID:10212300 20170412 RGD 1359000 DA.F344-(D10Arb27-D10Rat6)/Nsi strain DOID:7148 rheumatoid arthritis IAGP D RGD:1359065|PMID:15944295 20070214 RGD 1359004 DA.F344-(D10Mit9-D10Rat11)/Nsi strain DOID:7148 rheumatoid arthritis induced IAGP D RGD:1359065|PMID:15944295 20070214 RGD 1359017 Hrtrt21 Heart rate QTL 21 qtl DOID:114 heart disease IAGP D RGD:625381|PMID:11882571 19990101 RGD 1359018 Hrtrt20 Heart rate QTL 20 qtl DOID:114 heart disease IAGP D RGD:625381|PMID:11882571 19990101 RGD 1359019 Hrtrt19 Heart rate QTL 19 qtl DOID:114 heart disease IAGP D RGD:625381|PMID:11882571 19990101 RGD 1359019 Hrtrt19 Heart rate QTL 19 qtl DOID:9007001 Bradycardia IAGP D RGD:625381|PMID:11882571 19990101 RGD 1359020 Ppulsi2 Prepulse inhibition QTL 2 qtl DOID:5419 schizophrenia QTM D RGD:629579|PMID:12426667 19990101 RGD 1359021 Bp271 Blood pressure QTL 271 qtl DOID:10763 hypertension IAGP D RGD:625381|PMID:11882571 19990101 RGD 1359022 Ppulsi1 Prepulse inhibition QTL 1 qtl DOID:5419 schizophrenia QTM D RGD:629579|PMID:12426667 19990101 RGD 1359023 Bp272 Blood pressure QTL 272 qtl DOID:10763 hypertension IAGP D RGD:625381|PMID:11882571 19990101 RGD 1359030 Bp277 Blood pressure QTL 277 qtl DOID:10763 hypertension QTM D RGD:629618|PMID:12209022 19990101 RGD 1359031 Bp275 Blood pressure QTL 275 qtl DOID:10763 hypertension QTM D RGD:629618|PMID:12209022 19990101 RGD 1359032 Hrtrt18 Heart rate QTL 18 qtl DOID:114 heart disease IAGP D RGD:629618|PMID:12209022 19990101 RGD 1359032 Hrtrt18 Heart rate QTL 18 qtl DOID:9007001 Bradycardia IAGP D RGD:629618|PMID:12209022 19990101 RGD 1359033 Bp273 Blood pressure QTL 273 qtl DOID:10763 hypertension IAGP D RGD:1358955|PMID:12388796 19990101 RGD 1359034 Bp274 Blood pressure QTL 274 qtl DOID:10763 hypertension QTM D RGD:629618|PMID:12209022 19990101 RGD 1359035 Bp276 Blood pressure QTL 276 qtl DOID:10763 hypertension QTM D RGD:629618|PMID:12209022 19990101 RGD 1359092 Krt10 keratin 10 gene DOID:161 keratosis ISO RGD:1354394 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 1359092 Krt10 keratin 10 gene DOID:1749 squamous cell carcinoma ISO RGD:1354394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1359092 Krt10 keratin 10 gene DOID:2773 contact dermatitis ISO RGD:1354394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1359092 Krt10 keratin 10 gene DOID:4323 epidermolytic acanthoma ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic acanthoma PMID:1381287|PMID:21271994|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 1359092 Krt10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:1380725|PMID:1381287|PMID:16505000|PMID:19474805|PMID:20302579|PMID:21271994|PMID:2182100|PMID:22930352|PMID:24001792|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983|PMID:7526210 1359092 Krt10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis ISS RGD:1550484 D RGD:13592920 20230518 MouseDO OMIM:113800 1359092 Krt10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1354394 D RGD:1600168|PMID:7512983 20070301 RGD DNA:mutations:cds: p.R156C (human) 1359092 Krt10 keratin 10 gene DOID:630 genetic disease ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359092 Krt10 keratin 10 gene DOID:9000839 Ichthyosis Hystrix Gravior ISO RGD:1354394 D RGD:7240710 20221214 OMIM 1359092 Krt10 keratin 10 gene DOID:9004068 Epidermolytic Hyperkeratosis 2 ISO RGD:1354394 D RGD:7240710 20230517 OMIM 1359092 Krt10 keratin 10 gene DOID:9004464 Skin Neoplasms ISO RGD:1354394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1359092 Krt10 keratin 10 gene DOID:9004887 Annular Epidermolytic Ichthyosis 1 ISO RGD:1354394 D RGD:7240710 20130221 OMIM 1359092 Krt10 keratin 10 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1354394 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism 1359092 Krt10 keratin 10 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1354394 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:22035476|PMID:25741868|PMID:28492532 1359092 Krt10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:7240710 20130221 OMIM 1359092 Krt10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:20798280|PMID:25210931|PMID:25741868|PMID:27208707|PMID:27291450|PMID:28492532|PMID:31638346|PMID:32407542|PMID:34008892|PMID:9418775 1359092 Krt10 keratin 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19953893 1359093 Cdca3 cell division cycle associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359093 Cdca3 cell division cycle associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345166 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1359093 Cdca3 cell division cycle associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345166 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1359093 Cdca3 cell division cycle associated 3 gene DOID:0080600 COVID-19 ISO RGD:1345166 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359093 Cdca3 cell division cycle associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345166 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1359093 Cdca3 cell division cycle associated 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 1359093 Cdca3 cell division cycle associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345166 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1359093 Cdca3 cell division cycle associated 3 gene DOID:10825 essential hypertension ISO RGD:1345166 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 1359093 Cdca3 cell division cycle associated 3 gene DOID:630 genetic disease ISO RGD:1345166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359093 Cdca3 cell division cycle associated 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345166 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1359093 Cdca3 cell division cycle associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345166 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359094 Zfp672 zinc finger protein 672 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1602674 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1359094 Zfp672 zinc finger protein 672 gene DOID:630 genetic disease ISO RGD:1602674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359096 Nfatc2ip nuclear factor of activated T-cells 2 interacting protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1349771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1359096 Nfatc2ip nuclear factor of activated T-cells 2 interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1359096 Nfatc2ip nuclear factor of activated T-cells 2 interacting protein gene DOID:5419 schizophrenia ISO RGD:1349771 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359096 Nfatc2ip nuclear factor of activated T-cells 2 interacting protein gene DOID:630 genetic disease ISO RGD:1349771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359096 Nfatc2ip nuclear factor of activated T-cells 2 interacting protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1359097 Krt25 keratin 25 gene DOID:0110705 hypotrichosis 8 ISO RGD:1353851 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:24824130|PMID:26160856 1359097 Krt25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:7240710 20190315 OMIM 1359097 Krt25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 3 PMID:24824130|PMID:26160856|PMID:26902920 1359097 Krt25 keratin 25 gene DOID:630 genetic disease ISO RGD:1353851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359097 Krt25 keratin 25 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1353851 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1347618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:1307 dementia IEP D RGD:9685031|PMID:20545768 20141215 RGD protein:decreased expression:hippocampus 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:305 carcinoma ISO RGD:1347618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:630 genetic disease ISO RGD:1347618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9685028|PMID:20141154 20141215 RGD protein:decreased expression:spinal cord 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359099 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1359100 Tram1 translocation associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:1346981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359104 Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1359104 Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J gene DOID:13938 amenorrhea ISO RGD:1603861 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1359104 Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J gene DOID:630 genetic disease ISO RGD:1603861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359105 Fbxo25 F-box protein 25 gene DOID:630 genetic disease ISO RGD:1603223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359106 Hmgn3 high mobility group nucleosomal binding domain 3 gene DOID:630 genetic disease ISO RGD:1352330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359106 Hmgn3 high mobility group nucleosomal binding domain 3 gene DOID:9269 maple syrup urine disease ISO RGD:1352330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:26769963 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:7240710 20130221 OMIM 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:25741868|PMID:28492532 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1602828 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094|PMID:28122516|PMID:28478440|PMID:28973294 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:417 autoimmune disease ISS RGD:1620759 D RGD:13592920 20190228 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:5614 eye disease ISO RGD:1602828 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1602828 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:9002955 Nerve Degeneration ISO RGD:1602828 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 1359108 RGD1359108 similar to RIKEN cDNA 3110043O21 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1602828 D RGD:8554872 20191029 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605174 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605174 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:0111621 Temtamy syndrome ISO RGD:1605174 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:630 genetic disease ISO RGD:1605174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1618839 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359109 Clec4a1 C-type lectin domain family 4, member A1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605174 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359110 Arcn1 archain 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359110 Arcn1 archain 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1359110 Arcn1 archain 1 gene DOID:0080690 RASopathy ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1359110 Arcn1 archain 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344658 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1359110 Arcn1 archain 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1344658 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1359110 Arcn1 archain 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359110 Arcn1 archain 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359110 Arcn1 archain 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359110 Arcn1 archain 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359110 Arcn1 archain 1 gene DOID:10907 microcephaly ISO RGD:1344658 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1359110 Arcn1 archain 1 gene DOID:630 genetic disease ISO RGD:1344658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359110 Arcn1 archain 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344658 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1359110 Arcn1 archain 1 gene DOID:9004866 Ataxia ISO RGD:1344658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20502676 1359110 Arcn1 archain 1 gene DOID:9005682 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay ISO RGD:1344658 D RGD:7240710 20190315 OMIM 1359110 Arcn1 archain 1 gene DOID:9005682 Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay ISO RGD:1344658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay PMID:25741868|PMID:27476655|PMID:28492532|PMID:31075182|PMID:33154040|PMID:35300924 1359110 Arcn1 archain 1 gene DOID:9007661 Dwarfism ISO RGD:1344658 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1359111 Tor2a torsin family 2, member A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1359111 Tor2a torsin family 2, member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1359111 Tor2a torsin family 2, member A gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1345727 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1359111 Tor2a torsin family 2, member A gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1359111 Tor2a torsin family 2, member A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1359111 Tor2a torsin family 2, member A gene DOID:630 genetic disease ISO RGD:1345727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359112 Sdad1 SDA1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1353066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359112 Sdad1 SDA1 domain containing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1353066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1359112 Sdad1 SDA1 domain containing 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1359113 Cdv3 carnitine deficiency-associated gene expressed in ventricle 3 gene DOID:630 genetic disease ISO RGD:1602107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359113 Cdv3 carnitine deficiency-associated gene expressed in ventricle 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602107 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1359113 Cdv3 carnitine deficiency-associated gene expressed in ventricle 3 gene DOID:9270 alkaptonuria ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1359114 Zfp667 zinc finger protein 667 gene DOID:630 genetic disease ISO RGD:1603200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359115 Krt27 keratin 27 gene DOID:630 genetic disease ISO RGD:1345701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359117 Vezt vezatin, adherens junctions transmembrane protein gene DOID:630 genetic disease ISO RGD:1602106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359118 Kifc1 kinesin family member C1 gene DOID:0050553 JMP syndrome ISO RGD:1349353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359118 Kifc1 kinesin family member C1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349353 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359118 Kifc1 kinesin family member C1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1349353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1359118 Kifc1 kinesin family member C1 gene DOID:0080600 COVID-19 ISO RGD:1349353 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359118 Kifc1 kinesin family member C1 gene DOID:630 genetic disease ISO RGD:1349353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359118 Kifc1 kinesin family member C1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349353 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1359118 Kifc1 kinesin family member C1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1349353 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:26177331 1359119 Sft2d1 SFT2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359120 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1349280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1359120 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1359120 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:630 genetic disease ISO RGD:1349280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359120 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1349280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1359120 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1359122 NMS neuromedin S gene DOID:630 genetic disease ISO RGD:1604755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359123 Mycbpap Mycbp associated protein gene DOID:630 genetic disease ISO RGD:1345665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359124 Cyb5d2 cytochrome b5 domain containing 2 gene DOID:630 genetic disease ISO RGD:1606739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359125 Omg oligodendrocyte-myelin glycoprotein gene DOID:0111253 neurofibromatosis 1 ISO RGD:30306369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 1359125 Omg oligodendrocyte-myelin glycoprotein gene DOID:1969 cerebral palsy ISO RGD:30306369 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1359125 Omg oligodendrocyte-myelin glycoprotein gene DOID:630 genetic disease ISO RGD:30306369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359125 Omg oligodendrocyte-myelin glycoprotein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:30306369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 1359125 Omg oligodendrocyte-myelin glycoprotein gene DOID:9008086 Developmental Disabilities ISO RGD:30306369 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1359126 Trim26 tripartite motif-containing 26 gene DOID:11372 megacolon ISO RGD:1346405 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359126 Trim26 tripartite motif-containing 26 gene DOID:630 genetic disease ISO RGD:1346405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359127 RGD1359127 similar to RIKEN cDNA 2310011J03 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1359127 RGD1359127 similar to RIKEN cDNA 2310011J03 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1359127 RGD1359127 similar to RIKEN cDNA 2310011J03 gene DOID:5339 cyclic hematopoiesis ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1359127 RGD1359127 similar to RIKEN cDNA 2310011J03 gene DOID:630 genetic disease ISO RGD:1352315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359127 RGD1359127 similar to RIKEN cDNA 2310011J03 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352315 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359128 Selenot selenoprotein T gene DOID:0050579 glycogen storage disease XV ISO RGD:1602000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1359128 Selenot selenoprotein T gene DOID:630 genetic disease ISO RGD:1602000 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359130 Inpp5k inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:7240710 20190315 OMIM 1359130 Inpp5k inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability PMID:25741868|PMID:28190456|PMID:28190459|PMID:28492532|PMID:33792664 1359130 Inpp5k inositol polyphosphate-5-phosphatase K gene DOID:630 genetic disease ISO RGD:1604357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26940976|PMID:28190459 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603338 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:7240710 20190315 OMIM 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 34 PMID:25741868|PMID:27486783|PMID:28492532 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:1059 intellectual disability ISO RGD:1603338 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:630 genetic disease ISO RGD:1603338 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9007073 Cough ISO RGD:1603338 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 1359131 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 1359132 Armcx2 armadillo repeat containing, X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602335 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359132 Armcx2 armadillo repeat containing, X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1359132 Armcx2 armadillo repeat containing, X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1602335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1359132 Armcx2 armadillo repeat containing, X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1602335 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359132 Armcx2 armadillo repeat containing, X-linked 2 gene DOID:630 genetic disease ISO RGD:1602335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:25073507|PMID:28492532 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735815 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:735815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:735815 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:735815 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25741868 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:12849 autistic disorder ISO RGD:735815 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:1882 atrial heart septal defect ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:2634 cystadenoma ISO RGD:735815 D RGD:9068941 20200702 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:5419 schizophrenia ISO RGD:735815 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:630 genetic disease ISO RGD:735815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:17576681|PMID:25741868|PMID:2825199|PMID:28492532|PMID:8598869|PMID:9536098 1359133 Aldoart2 aldolase 1 A retrogene 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:735815 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome 1359135 Mink1 misshapen-like kinase 1 gene DOID:12849 autistic disorder ISO RGD:1604362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1359135 Mink1 misshapen-like kinase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604362 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:17363247 1359135 Mink1 misshapen-like kinase 1 gene DOID:630 genetic disease ISO RGD:1604362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359136 Ints12 integrator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1601748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350775 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:630 genetic disease ISO RGD:1350775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350775 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359137 Wrap73 WD repeat containing, antisense to TP73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359138 Slc16a13 solute carrier family 16, member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354212 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1359138 Slc16a13 solute carrier family 16, member 13 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1354212 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1359138 Slc16a13 solute carrier family 16, member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1359138 Slc16a13 solute carrier family 16, member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1354212 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1359138 Slc16a13 solute carrier family 16, member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1354212 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1359138 Slc16a13 solute carrier family 16, member 13 gene DOID:630 genetic disease ISO RGD:1354212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359139 Slfn13 schlafen family member 13 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1605312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1359139 Slfn13 schlafen family member 13 gene DOID:0080600 COVID-19 ISO RGD:1605312 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359139 Slfn13 schlafen family member 13 gene DOID:630 genetic disease ISO RGD:1605312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1343477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343477 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:305 carcinoma ISO RGD:1343477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:630 genetic disease ISO RGD:1343477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359140 Mpzl1 myelin protein zero-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343477 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:7240710 20130221 OMIM 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mast syndrome PMID:14564668|PMID:16199547|PMID:17576681|PMID:24451228|PMID:25741868|PMID:26467025|PMID:28492532|PMID:6024251|PMID:9536098 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14564668|PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:1351182 D RGD:1556574|PMID:14564668 20061214 RGD 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:2717 Bloom syndrome ISO RGD:1351182 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:630 genetic disease ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359141 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:9256 colorectal cancer ISO RGD:1351182 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:0060224 atrial fibrillation ISO RGD:1343381 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:28492532 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1550518 D RGD:10044242|PMID:22541428 20150604 RGD protein:altered localization:liver, Golgi (mouse) 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy severity ISO RGD:1550518 D RGD:10044242|PMID:22541428 20150604 RGD 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:3911 progeria severity ISO RGD:1550518 D RGD:10044242|PMID:22541428 20150604 RGD 1359142 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359143 Cct2 chaperonin containing TCP1 subunit 2 gene DOID:11476 osteoporosis ISO RGD:1352326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1359143 Cct2 chaperonin containing TCP1 subunit 2 gene DOID:630 genetic disease ISO RGD:1352326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:1059 intellectual disability ISO RGD:1344986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:1059 intellectual disability ISO RGD:1344986 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:2843 long QT syndrome ISO RGD:1344986 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:630 genetic disease ISO RGD:1344986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:7240710 20210303 OMIM 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:25741868|PMID:33340455 1359144 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1344986 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Global developmental delay 1359145 Krt40 keratin 40 gene DOID:630 genetic disease ISO RGD:1606169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:1826 epilepsy ISO RGD:1343920 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1343920 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15138885 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1343920 D RGD:1599115|PMID:15138885 20070117 RGD 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:4450 renal cell carcinoma ISO RGD:1343920 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:7240710 20141015 OMIM 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:15138885|PMID:16199547|PMID:17576681|PMID:18164639|PMID:19924563|PMID:21914562|PMID:25356417|PMID:25741868|PMID:26014431|PMID:26865159|PMID:28492532|PMID:9536098 1359146 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:1343920 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:25741868|PMID:28492532 1359147 Kazn kazrin, periplakin interacting protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359147 Kazn kazrin, periplakin interacting protein gene DOID:630 genetic disease ISO RGD:1604041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359148 Utp25 UTP25 small subunit processome component gene DOID:10487 Hirschsprung's disease ISO RGD:1604367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 1359148 Utp25 UTP25 small subunit processome component gene DOID:1540 parathyroid carcinoma ISO RGD:1604367 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359148 Utp25 UTP25 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359148 Utp25 UTP25 small subunit processome component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604367 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1352193 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:7240710 20140903 OMIM 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1352193 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:12849 autistic disorder ISO RGD:1352193 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:5419 schizophrenia ISO RGD:1352193 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:630 genetic disease ISO RGD:1352193 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359150 Uqcrc2 ubiquinol cytochrome c reductase core protein 2 gene DOID:9970 obesity ISO RGD:1352193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1359151 Tifa TRAF-interacting protein with forkhead-associated domain gene DOID:12271 aniridia ISO RGD:1606192 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1359151 Tifa TRAF-interacting protein with forkhead-associated domain gene DOID:630 genetic disease ISO RGD:1606192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:0080600 COVID-19 ISO RGD:1352377 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:0080600 COVID-19 severity ISO RGD:1352377 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:10325 silicosis IEP D RGD:6483764|PMID:21830856 20120530 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:1063 interstitial nephritis IEP D RGD:6483768|PMID:10385480 20120530 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:1063 interstitial nephritis ISO RGD:1352377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:11204 allergic conjunctivitis ISO RGD:1352377 D RGD:6483824|PMID:11090473 20120604 RGD protein:increased expression:conjunctiva 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1551007 D RGD:5130981|PMID:16888287 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:1205 allergic disease ISO RGD:1352377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:13580 cholestasis ISO RGD:1352377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:1790 malignant mesothelioma ISO RGD:1352377 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2377 multiple sclerosis ISO RGD:1352377 D RGD:6483814|PMID:9655469 20120604 RGD mRNA,protein:increased expression:brain 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2377 multiple sclerosis ISO RGD:1352377 D RGD:6483818|PMID:12127674 20120604 RGD DNA:polymorphism:promoter 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2527 nephrosis IEP D RGD:4891422|PMID:10867541 20120530 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2799 bronchiolitis obliterans IEP D RGD:6483763|PMID:22215510 20120530 RGD protein:increased expression:bronchoalveolar Lavage fluid 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2841 asthma ISO RGD:1352377 D RGD:5130983|PMID:21388664 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2841 asthma ISO RGD:1551007 D RGD:5130979|PMID:19965981 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2921 glomerulonephritis IDA D RGD:8693624|PMID:11157384 20120530 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:2921 glomerulonephritis ISO RGD:1352377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352377 D RGD:6483765|PMID:21327296 20120530 RGD mRNA,protein:increased expression:macrophage 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:4483 rhinitis ISO RGD:1352377 D RGD:4145109|PMID:17982926 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:4617 periapical granuloma ISO RGD:1352377 D RGD:6483772|PMID:20646081 20120531 RGD protein:increased expression:periodontal ligament 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:552 pneumonia ISO RGD:1352377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:552 pneumonia ISO RGD:1352377 D RGD:5130985|PMID:15191918 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:630 genetic disease ISO RGD:1352377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:820 myocarditis ISO RGD:1551007 D RGD:6483771|PMID:21986287 20120531 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:823 periapical periodontitis disease_progression ISO RGD:1352377 D RGD:6483772|PMID:20646081 20120531 RGD protein:increased expression:periodontal ligament 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1551007 D RGD:5130978|PMID:20027288 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:8466 retinal degeneration ISO RGD:1551007 D RGD:6483781|PMID:16270028 20120531 RGD mRNA:increased expression:retina 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:8577 ulcerative colitis ISO RGD:1352377 D RGD:6483784|PMID:10433925 20120531 RGD protein:increased expression:colon 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1551007 D RGD:5130980|PMID:18490489 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9001004 Chronic Periodontitis disease_progression ISO RGD:1352377 D RGD:6483776|PMID:20151806 20120531 RGD protein:increased expression:gingival crevicular fluid, gingvia 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:6483766|PMID:17719030 20120530 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9002457 Experimental Arthritis onset ISO RGD:1551007 D RGD:6483780|PMID:17178563 20140130 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352377 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9005334 Radicular Cyst ISO RGD:1352377 D RGD:6483772|PMID:20646081 20120531 RGD protein:increased expression:periodontal ligament 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1551007 D RGD:5129686|PMID:20045013 20110419 RGD 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy IEP D RGD:5135067|PMID:19131226 20120530 RGD protein:increased expression:serum 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:934 viral infectious disease ISO RGD:1352377 D RGD:5130984|PMID:18579545 20110419 RGD Various respiratory viruses 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9507 ethmoid sinusitis ISO RGD:1352377 D RGD:6483785|PMID:9800627 20120531 RGD protein:increased expression:ethmoid sinus 1359152 Ccl7 C-C motif chemokine ligand 7 gene DOID:9970 obesity ISO RGD:1352377 D RGD:6483834|PMID:18492752 20120604 RGD 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1353279 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:11198 DiGeorge syndrome ISO RGD:1353279 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:1967 leiomyosarcoma ISO RGD:1353279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26555296 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:5419 schizophrenia ISO RGD:1353279 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:630 genetic disease ISO RGD:1353279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:7240710 20190315 OMIM 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 PMID:12833411|PMID:25741868|PMID:27325888|PMID:31940699 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353279 D RGD:40400915|PMID:28036111 20201105 RGD 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353279 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9004610 Acute Lung Injury ISO RGD:1353279 D RGD:11554173 20220111 CTD CTD Direct Evidence: therapeutic PMID:33930521 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1353279 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27980214 1359153 Usp18 ubiquitin specific peptidase 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1359154 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:11372 megacolon ISO RGD:1606810 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359154 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:630 genetic disease ISO RGD:1606810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359154 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:7240710 20190918 OMIM 1359154 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies PMID:25741868|PMID:30968111 1359156 Spata32 spermatogenesis associated 32 gene DOID:630 genetic disease ISO RGD:1603588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359157 Slc25a34 solute carrier family 25, member 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359157 Slc25a34 solute carrier family 25, member 34 gene DOID:630 genetic disease ISO RGD:1606920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359157 Slc25a34 solute carrier family 25, member 34 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606920 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 1359158 C1h9orf85 similar to human chromosome 9 open reading frame 85 gene DOID:630 genetic disease ISO RGD:1605873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359160 Gemin8 gem (nuclear organelle) associated protein 8 gene DOID:12849 autistic disorder ISO RGD:1343150 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359160 Gemin8 gem (nuclear organelle) associated protein 8 gene DOID:630 genetic disease ISO RGD:1343150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359160 Gemin8 gem (nuclear organelle) associated protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343150 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359161 Epdr1 ependymin related 1 gene DOID:13550 angle-closure glaucoma ISO RGD:1343278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 1359161 Epdr1 ependymin related 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343278 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359161 Epdr1 ependymin related 1 gene DOID:630 genetic disease ISO RGD:1343278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359164 Fut10 fucosyltransferase 10 gene DOID:630 genetic disease ISO RGD:1354084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359165 Yipf5 Yip1 domain family, member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359165 Yipf5 Yip1 domain family, member 5 gene DOID:630 genetic disease ISO RGD:1602093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359165 Yipf5 Yip1 domain family, member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602093 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359165 Yipf5 Yip1 domain family, member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359165 Yipf5 Yip1 domain family, member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:7240710 20210505 OMIM 1359165 Yipf5 Yip1 domain family, member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 PMID:25741868|PMID:33164986 1359167 Nuak2 NUAK family kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1359167 Nuak2 NUAK family kinase 2 gene DOID:12849 autistic disorder ISO RGD:1603952 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359167 Nuak2 NUAK family kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603952 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359167 Nuak2 NUAK family kinase 2 gene DOID:630 genetic disease ISO RGD:1603952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359167 Nuak2 NUAK family kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1359167 Nuak2 NUAK family kinase 2 gene DOID:9007291 Anencephaly 2 ISO RGD:1603952 D RGD:7240710 20210728 OMIM 1359167 Nuak2 NUAK family kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603952 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:1540 parathyroid carcinoma ISO RGD:1350314 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:5812 MHC class II deficiency ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:1350314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:9008939 Breast Neoplasms ISO RGD:1350314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1359171 mrpl9 mitochondrial ribosomal protein L9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350314 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359172 Dhrs1 dehydrogenase/reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352104 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359172 Dhrs1 dehydrogenase/reductase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1359172 Dhrs1 dehydrogenase/reductase 1 gene DOID:630 genetic disease ISO RGD:1352104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359172 Dhrs1 dehydrogenase/reductase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352104 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1359172 Dhrs1 dehydrogenase/reductase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352104 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1359173 Mief1 mitochondrial elongation factor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1359173 Mief1 mitochondrial elongation factor 1 gene DOID:630 genetic disease ISO RGD:1604008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359175 F12 coagulation factor XII gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1359175 F12 coagulation factor XII gene DOID:0060903 thrombosis ISO RGD:1345372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 1359175 F12 coagulation factor XII gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25050900|PMID:25741868|PMID:28492532|PMID:30943683 1359175 F12 coagulation factor XII gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 1359175 F12 coagulation factor XII gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1359175 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:7240710 20130221 OMIM 1359175 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21690105|PMID:22920075|PMID:23188048|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:9490684 1359175 F12 coagulation factor XII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345372 D RGD:11565081|PMID:9129025 20161118 RGD 1359175 F12 coagulation factor XII gene DOID:0112103 Sotos syndrome 1 ISO RGD:1345372 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1359175 F12 coagulation factor XII gene DOID:10763 hypertension ISO RGD:1345372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 1359175 F12 coagulation factor XII gene DOID:10763 hypertension ISO RGD:1345372 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 1359175 F12 coagulation factor XII gene DOID:14735 hereditary angioedema ISO RGD:1345372 D RGD:11041802|PMID:21849258 20160329 RGD DNA:deletion mutations:exon,intron: 1359175 F12 coagulation factor XII gene DOID:14735 hereditary angioedema ISO RGD:1345372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19477491 1359175 F12 coagulation factor XII gene DOID:14735 hereditary angioedema ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 1359175 F12 coagulation factor XII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345372 D RGD:11565081|PMID:9129025 20161118 RGD 1359175 F12 coagulation factor XII gene DOID:1555 urticaria ISO RGD:1345372 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 1359175 F12 coagulation factor XII gene DOID:1558 angioedema ISO RGD:1345372 D RGD:1601106|PMID:16638441 20070406 RGD DNA:missense:exon:T309K,T309R 1359175 F12 coagulation factor XII gene DOID:1558 angioedema ISO RGD:1345372 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 1359175 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:11041769|PMID:11248286 20160329 RGD DNA:polymorphism:promoter:-46C>T(human) 1359175 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:11041772|PMID:20386432 20160329 RGD DNA:missense, nonsense, deletion mutations:cds: 1359175 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:11041805|PMID:18024408 20160329 RGD DNA:deletion mutations, transversion mutation:introns, exon: 1359175 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:1601107|PMID:2510163 20070406 RGD DNA:missense:exon:C571S 1359175 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:7240710 20130221 OMIM 1359175 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21264442|PMID:21690105|PMID:21920016|PMID:22920075|PMID:23188048|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9490684|PMID:9536098 1359175 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia ISO RGD:1552499 D RGD:11041786|PMID:16533887 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia treatment ISO RGD:1345372 D RGD:11041786|PMID:16533887 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:2741 bilirubin metabolic disorder ISO RGD:1345372 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 1359175 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction ISO RGD:1552499 D RGD:11041786|PMID:16533887 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1345372 D RGD:11041786|PMID:16533887 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345372 D RGD:11041803|PMID:16411408 20160329 RGD DNA:polymorphism:promoter:-46C>T(human) 1359175 F12 coagulation factor XII gene DOID:630 genetic disease ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359175 F12 coagulation factor XII gene DOID:9000528 Coronary Disease ISO RGD:1345372 D RGD:11041785|PMID:18021303 20160329 RGD protein:decreased activity:: 1359175 F12 coagulation factor XII gene DOID:9000543 Death ISO RGD:1345372 D RGD:11041782|PMID:17388965 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 1359175 F12 coagulation factor XII gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345372 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM PMID:11843842|PMID:20303064|PMID:24033266|PMID:25741868|PMID:9490684 1359175 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:11041771|PMID:16009717 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16009717 1359175 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1552499 D RGD:11041771|PMID:16009717 20160329 RGD 1359175 F12 coagulation factor XII gene DOID:9003281 Spontaneous Abortions ISO RGD:1345372 D RGD:11041799|PMID:24597288 20160329 RGD protein:decreased activity: : 1359175 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:11041808|PMID:15116249 20160329 RGD DNA:polymorphism::46C>T(human) 1359175 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:11041858|PMID:20141580 20160330 RGD associated with Pregnancy Complications; DNA:polymorphism::46C>T(human) 1359175 F12 coagulation factor XII gene DOID:9005930 Endotoxemia IEP D RGD:7394782|PMID:11092686 20160121 RGD 1359175 F12 coagulation factor XII gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345372 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1359175 F12 coagulation factor XII gene DOID:9007096 Stroke susceptibility ISO RGD:1345372 D RGD:11041862|PMID:15232129 20160330 RGD DNA:polymorphism::46C>T(human) 1359175 F12 coagulation factor XII gene DOID:9279 hyperhomocysteinemia treatment IDA D RGD:1601105|PMID:16046705 20160121 RGD 1359175 F12 coagulation factor XII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345372 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased activity:plasma (human) 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312240 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312240 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359176 Paip2 poly(A) binding protein interacting protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312240 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1359177 Krt80 keratin 80 gene DOID:630 genetic disease ISO RGD:1606454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0060249 scoliosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0080006 bone development disease ISO RGD:1601866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1601866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:17351359|PMID:20018682|PMID:23320496|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISS RGD:1601866 D RGD:13592920 20220728 MouseDO OMIM:213980 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 ISO RGD:1601866 D RGD:7240710 20220810 OMIM 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: sensorineural hearing loss disorder PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:1059 intellectual disability ISO RGD:1601866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:1067 open-angle glaucoma ISO RGD:1601866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:11383 cryptorchidism ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1601866 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1601866 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:14766 renal agenesis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1601866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:540 strabismus ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1601866 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:674 cleft palate ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1601866 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1601866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1601866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:1601866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 1359178 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601866 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359180 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:11446 sciatic neuropathy IEP D RGD:10045367|PMID:21959983 20150609 RGD protein:increased expression:sciatic nerve 1359180 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1353437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359180 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1353437 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 1359180 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000998 Brain Injuries IEP D RGD:10045359|PMID:21728064 20150609 RGD protein:increased expression:cerebral cortex 1359180 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1359180 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353437 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 1359182 Krt42 keratin 42 gene DOID:5419 schizophrenia ISO RGD:1352617 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359183 Pglyrp2 peptidoglycan recognition protein 2 gene DOID:630 genetic disease ISO RGD:1346354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359185 Taar5 trace amine-associated receptor 5 gene DOID:630 genetic disease ISO RGD:1603706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359187 Lhpp phospholysine phosphohistidine inorganic pyrophosphate phosphatase gene DOID:630 genetic disease ISO RGD:1606248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359188 Acot9 acyl-CoA thioesterase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606811 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359188 Acot9 acyl-CoA thioesterase 9 gene DOID:12849 autistic disorder ISO RGD:1606811 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359188 Acot9 acyl-CoA thioesterase 9 gene DOID:630 genetic disease ISO RGD:1606811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359188 Acot9 acyl-CoA thioesterase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359188 Acot9 acyl-CoA thioesterase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606811 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359189 Cluap1 clusterin associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532|PMID:28679688 1359189 Cluap1 clusterin associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1359189 Cluap1 clusterin associated protein 1 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1354421 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:26820066 1359189 Cluap1 clusterin associated protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1354421 D RGD:8554872 20160510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:26820066 1359189 Cluap1 clusterin associated protein 1 gene DOID:1826 epilepsy ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1359189 Cluap1 clusterin associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1354421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359189 Cluap1 clusterin associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1359189 Cluap1 clusterin associated protein 1 gene DOID:630 genetic disease ISO RGD:1354421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359190 Raver1 ribonucleoprotein, PTB-binding 1 gene DOID:630 genetic disease ISO RGD:1603914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359191 Trmt61a tRNA methyltransferase 61A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1359191 Trmt61a tRNA methyltransferase 61A gene DOID:630 genetic disease ISO RGD:1343016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359191 Trmt61a tRNA methyltransferase 61A gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1354058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26083318|PMID:26859482|PMID:28492532|PMID:29742735 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:1354058 D RGD:7240710 20140911 OMIM 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:9536098 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:7240710 20130221 OMIM 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:0070026 Revesz syndrome ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Revesz syndrome PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:9536098 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:20301779 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:1612 breast cancer ISO RGD:1354058 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18669893|PMID:20301779|PMID:25741868|PMID:28492532 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18252230|PMID:18669893|PMID:18979121|PMID:19090550|PMID:19327580|PMID:20301779|PMID:20979174|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22080964|PMID:22211879|PMID:22339828|PMID:22341970|PMID:23094712|PMID:25741868|PMID:26083318|PMID:26193622|PMID:26230315|PMID:26808569|PMID:26859482|PMID:27824607|PMID:28102861|PMID:28104920|PMID:28492532|PMID:28643950|PMID:28866069|PMID:29146883|PMID:29483670|PMID:29581185|PMID:29742735|PMID:30604317|PMID:32499645|PMID:9536098 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:2786 cerebellar disease ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:4123 nail disease ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:4961 bone marrow disease ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1354058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:32499645 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1354058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1354058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:25741868|PMID:28492532 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1359192 Tinf2 TERF1 interacting nuclear factor 2 gene DOID:9006257 Growth Disorders ISO RGD:1354058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252230 1359193 Gpr180 G protein-coupled receptor 180 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1604518 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1359193 Gpr180 G protein-coupled receptor 180 gene DOID:630 genetic disease ISO RGD:1604518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359193 Gpr180 G protein-coupled receptor 180 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604518 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1359193 Gpr180 G protein-coupled receptor 180 gene DOID:9006419 Congenital Microcoria ISO RGD:1604518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 1359194 Fam151a family with sequence similarity 151, member A gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603341 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs11206394) G>C (human) 1359194 Fam151a family with sequence similarity 151, member A gene DOID:630 genetic disease ISO RGD:1603341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359195 Tlcd1 TLC domain containing 1 gene DOID:630 genetic disease ISO RGD:1602658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352836 D RGD:7364874|PMID:19018717 20131004 RGD DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1352836 D RGD:7365090|PMID:23692434 20131018 RGD DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:0060180 colitis ISO RGD:1352836 D RGD:7387221|PMID:2257626 20131024 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B27 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:1352836 D RGD:7365106|PMID:11564593 20131021 RGD associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:0080750 erythema nodosum ISO RGD:1352836 D RGD:7364926|PMID:12198697 20131011 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:1352836 D RGD:7365121|PMID:3341436 20131022 RGD DNA:polymorphisms:cds:HLA-B12 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:10003 sensorineural hearing loss ISO RGD:1352836 D RGD:7365120|PMID:2909230 20131022 RGD Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphisms:cds:HLA-Bw54 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:1123 spondyloarthropathy ISO RGD:1352836 D RGD:7387221|PMID:2257626 20140205 RGD DNA:polymorphisms:cds:HLA-B27 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:11265 trachoma ISO RGD:1352836 D RGD:7364877|PMID:18824733 20131004 RGD DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1352836 D RGD:7364872|PMID:23808178 20131004 RGD DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:11563 retinal vasculitis ISO RGD:1352836 D RGD:7364920|PMID:12608042 20131011 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:12185 otosclerosis susceptibility ISO RGD:1352836 D RGD:7364875|PMID:22471616 20131004 RGD DNA:polymorphisms:cds:HLA-B*35, HLA-B*51 (human, Tunisian) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:12361 Graves' disease ISO RGD:1352836 D RGD:7365110|PMID:8894996 20131022 RGD DNA:polymorphisms:cds:HLA-B39 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:12361 Graves' disease onset ISO RGD:1352836 D RGD:7365118|PMID:2401095 20131022 RGD DNA:polymorphisms:cds:HLA-B8 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:7365094|PMID:23329888 20131018 RGD DNA:polymorphisms:cds:HLA-B*46 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:7365098|PMID:12694583 20131018 RGD DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:12361 Graves' disease susceptibility ISO RGD:1352836 D RGD:7365112|PMID:8096501 20131021 RGD DNA:polymorphisms, haplotype:cds:HLA-B8 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13025 retinopathy of prematurity ISO RGD:1352836 D RGD:7365093|PMID:24033735 20131018 RGD DNA:polymorphisms:cds:HLA-B*38 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13141 uveitis ISO RGD:1352836 D RGD:7364926|PMID:12198697 20131011 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*58 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13141 uveitis onset ISO RGD:1352836 D RGD:7364788|PMID:23831258 20130927 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B*51 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13141 uveitis treatment ISO RGD:1352836 D RGD:7364942|PMID:9232451 20131011 RGD 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:7364873|PMID:16101830 20131004 RGD DNA:polymorphisms:cds:HLA-B*51 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13241 Behcet's disease disease_progression ISO RGD:1352836 D RGD:7364918|PMID:12622781 20131011 RGD DNA:polymorphisms:cds:HLA-B*15 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:13241 Behcet's disease no_association ISO RGD:1352836 D RGD:7364939|PMID:11426025 20131011 RGD severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:1407 anterior uveitis ISO RGD:1352836 D RGD:7364913|PMID:16899524 20131011 RGD DNA:polymorphisms:cds:HLA-B27 (human, Thai) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:1731 histoplasmosis ISO RGD:1352836 D RGD:7364917|PMID:14522093 20131011 RGD Presumed Ocular Histoplasmosis Syndrome; DNA:polymorphisms:cds:HLA-B7 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:2723 dermatitis ISO RGD:1352836 D RGD:7387278|PMID:7573371 20131028 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1352836 D RGD:7365119|PMID:2801857 20131022 RGD DNA:polymorphisms:cds:HLA-Bw62 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:3875 thrombophlebitis ISO RGD:1352836 D RGD:7364924|PMID:12372094 20131011 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:6039 uveal melanoma severity ISO RGD:1352836 D RGD:7364941|PMID:9286277 20131011 RGD protein:increased expression:tumor of uvea (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:6196 reactive arthritis ISO RGD:1352836 D RGD:7365111|PMID:8154628 20131021 RGD DNA:polymorphisms:cds:HLA-B27 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1352836 D RGD:7364914|PMID:8733445 20131011 RGD DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:848 arthritis ISO RGD:1352836 D RGD:7364930|PMID:10648455 20131011 RGD associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352836 D RGD:7365095|PMID:22981956 20131018 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9001044 Choroidal Neovascularization susceptibility ISO RGD:1352836 D RGD:7365097|PMID:19728932 20131018 RGD associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1352836 D RGD:7364876|PMID:18922348 20131004 RGD DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1352836 D RGD:7387273|PMID:9233694 20131028 RGD human peptide in rat model; HLA-B7 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9004538 Hearing Loss ISO RGD:1352836 D RGD:7364915|PMID:15855027 20131011 RGD associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B51 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9004932 Eales Disease ISO RGD:1352836 D RGD:7365108|PMID:9756436 20131021 RGD DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:1352836 D RGD:7364916|PMID:15681796 20131011 RGD human HLA-B27 peptide in rat model 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:1352836 D RGD:7364942|PMID:9232451 20131023 RGD human peptide in rat model; HLA-B27 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:1352836 D RGD:8655904|PMID:1752149 20140522 RGD protein:increased expression:peripheral blood cell (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9007647 Trichiasis ISO RGD:1352836 D RGD:7364877|PMID:18824733 20131004 RGD DNA:polymorphisms:cds HLA-B*07, HLA-B*08 (human, Tanzanian) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:9849 Meniere's disease ISO RGD:1352836 D RGD:7364921|PMID:12542204 20131011 RGD DNA:polymorphisms:cds:HLA-B44 (human, South Korean) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:987 alopecia ISO RGD:1352836 D RGD:7387278|PMID:7573371 20131028 RGD human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) 1359196 RT1-CE13 RT1 class I, locus CE13 gene DOID:988 mitral valve prolapse ISO RGD:1352836 D RGD:7365110|PMID:8894996 20131022 RGD associated with Graves Disease; DNA:polymorphisms:cds:HLA-B15 (human) 1359197 Myzap myocardial zonula adherens protein gene DOID:12930 dilated cardiomyopathy ISO RGD:5509958 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:25741868 1359197 Myzap myocardial zonula adherens protein gene DOID:2717 Bloom syndrome ISO RGD:5509958 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359197 Myzap myocardial zonula adherens protein gene DOID:630 genetic disease ISO RGD:5509958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359197 Myzap myocardial zonula adherens protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:5509958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1359197 Myzap myocardial zonula adherens protein gene DOID:9256 colorectal cancer ISO RGD:5509958 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359199 Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:0080600 COVID-19 ISO RGD:1349666 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359199 Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:630 genetic disease ISO RGD:1349666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359199 Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1359200 Akap8l A-kinase anchoring protein 8 like gene DOID:630 genetic disease ISO RGD:1347470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359201 Nfxl1 nuclear transcription factor, X-box binding-like 1 gene DOID:13580 cholestasis ISO RGD:1347533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1359201 Nfxl1 nuclear transcription factor, X-box binding-like 1 gene DOID:630 genetic disease ISO RGD:1347533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359201 Nfxl1 nuclear transcription factor, X-box binding-like 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1359202 Igh-6 immunoglobulin heavy chain 6 gene DOID:9005369 Hepatomegaly EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1359203 Pdlim2 PDZ and LIM domain 2 gene DOID:630 genetic disease ISO RGD:1345506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359203 Pdlim2 PDZ and LIM domain 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1345506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1359204 C1qtnf1 C1q and TNF related 1 gene DOID:630 genetic disease ISO RGD:1350694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359204 C1qtnf1 C1q and TNF related 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1359206 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:7240710 20200701 OMIM 1359206 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86 PMID:25741868|PMID:32427860 1359206 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1352602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359206 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352602 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1359206 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1359207 MGC95210 hypothetical LOC287798 gene DOID:10283 prostate cancer ISO RGD:1602883 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1359207 MGC95210 hypothetical LOC287798 gene DOID:630 genetic disease ISO RGD:1602883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359208 Dmac2l distal membrane arm assembly component 2 like gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1343474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 1359208 Dmac2l distal membrane arm assembly component 2 like gene DOID:630 genetic disease ISO RGD:1343474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:0110031 hemoglobin H disease ISO RGD:737064 D RGD:7240710 20230505 OMIM 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:0110031 hemoglobin H disease ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10722113|PMID:11410420|PMID:11570724|PMID:12393486|PMID:1281602|PMID:15182058|PMID:1581238|PMID:16116675|PMID:1634361|PMID:1686260|PMID:17164653|PMID:1787098|PMID:18473243|PMID:20507641|PMID:21077767|PMID:21599435|PMID:21637442|PMID:2298455|PMID:23181747|PMID:2372512|PMID:23901141|PMID:24081251|PMID:24200101|PMID:2468982|PMID:24829075|PMID:25523870|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:26956449|PMID:27207683|PMID:27271331|PMID:27577202|PMID:28125089|PMID:28492532|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:3177365|PMID:31933393|PMID:3384694|PMID:3620699|PMID:4422784|PMID:4623704|PMID:4944483|PMID:6153381|PMID:6725554|PMID:7327587|PMID:7701914|PMID:7734346|PMID:7969150|PMID:8136277|PMID:8193381|PMID:8555062|PMID:8602995|PMID:9057661|PMID:9322079|PMID:9629496 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:0111363 Heinz body anemia ISO RGD:737064 D RGD:7240710 20230505 OMIM 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:0111363 Heinz body anemia ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Heinz body anemia PMID:11410420|PMID:11570724|PMID:12603095|PMID:1281602|PMID:15182058|PMID:15365991|PMID:1581238|PMID:1686260|PMID:1726096|PMID:1787098|PMID:18473243|PMID:20507641|PMID:21599435|PMID:24081251|PMID:24200101|PMID:24300714|PMID:25370869|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:26771086|PMID:27207683|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29115104|PMID:29477874|PMID:3024968|PMID:31111755|PMID:31113390|PMID:32498570|PMID:33769430|PMID:3384694|PMID:5639009|PMID:6153381|PMID:6646217|PMID:6946451|PMID:7070526|PMID:7151175|PMID:7558871|PMID:7701914|PMID:7734346|PMID:8943885 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:0111631 familial erythrocytosis 7 ISO RGD:737064 D RGD:7240710 20230505 OMIM 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:0111631 familial erythrocytosis 7 ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7 PMID:1115799|PMID:11186265|PMID:11410420|PMID:12217813|PMID:15182058|PMID:1634355|PMID:1634363|PMID:1686260|PMID:1787098|PMID:1988759|PMID:21599435|PMID:2227935|PMID:24081251|PMID:24200101|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:27207683|PMID:2752146|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:3384694|PMID:4212045|PMID:4550395|PMID:6153381|PMID:7803274|PMID:7928378 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:15182556|PMID:16798638 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:7240710 20230505 OMIM 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN KOYA DORA | ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:1062801|PMID:10722113|PMID:10997982|PMID:11017952|PMID:11074535|PMID:1115799|PMID:11410420|PMID:1155453|PMID:11570724|PMID:12144061|PMID:12217813|PMID:12393486|PMID:1281602|PMID:13748254|PMID:13968068|PMID:14508795|PMID:1487423|PMID:15128423|PMID:15182058|PMID:15365991|PMID:15481883|PMID:15481894|PMID:15481895|PMID:1553958|PMID:15650030|PMID:15658192|PMID:1581238|PMID:15921163|PMID:16103716|PMID:16116675|PMID:1634361|PMID:16512835|PMID:16798638|PMID:1686260|PMID:17054428|PMID:17164653|PMID:1726096|PMID:17296579|PMID:17486494|PMID:17486499|PMID:1787098|PMID:18473243|PMID:18654893|PMID:18923834|PMID:19373587|PMID:19958200|PMID:20154289|PMID:20507641|PMID:20524822|PMID:20642333|PMID:20642338|PMID:21077766|PMID:21077767|PMID:21266019|PMID:21599435|PMID:21637442|PMID:21967524|PMID:2197725|PMID:2265255|PMID:22943743|PMID:2298455|PMID:23181747|PMID:2318293|PMID:23368878|PMID:23402770|PMID:23590659|PMID:23614625|PMID:2372512|PMID:23741188|PMID:2384313|PMID:23901141|PMID:24025420|PMID:24033266|PMID:24081251|PMID:24111644|PMID:24200101|PMID:24300714|PMID:24351118|PMID:2468982|PMID:24826792|PMID:24829075|PMID:25130136|PMID:25370869|PMID:2544542|PMID:25476779|PMID:25523870|PMID:2566576|PMID:25730315|PMID:25741868|PMID:25818820|PMID:25897478|PMID:2606110|PMID:26114741|PMID:26193976|PMID:26193977|PMID:26247176|PMID:26294665|PMID:26365411|PMID:26467025|PMID:26635043|PMID:26715484|PMID:26771086|PMID:26956449|PMID:27207683|PMID:27271331|PMID:2752146|PMID:27577202|PMID:28125089|PMID:28160324|PMID:28492532|PMID:28506685|PMID:28791910|PMID:29115104|PMID:29233055|PMID:29403210|PMID:29477874|PMID:2986746|PMID:3024968|PMID:30864493|PMID:31025160|PMID:31111755|PMID:31113390|PMID:31553106|PMID:3177365|PMID:3191033|PMID:31933393|PMID:3233770|PMID:32498570|PMID:32597250|PMID:33054450|PMID:3384694|PMID:3384700|PMID:3597771|PMID:3620699|PMID:3793931|PMID:3839776|PMID:4422784|PMID:4623704|PMID:4724958|PMID:478977|PMID:4944483|PMID:5122655|PMID:538560|PMID:5587575|PMID:5713624|PMID:5780195|PMID:5794113|PMID:5969816|PMID:6153381|PMID:6158051|PMID:6198906|PMID:6199285|PMID:620088|PMID:6255436|PMID:6327575|PMID:6490612|PMID:6646217|PMID:6725554|PMID:6935689|PMID:6946451|PMID:6994493|PMID:7070526|PMID:7096113|PMID:7110343|PMID:7151175|PMID:7295286|PMID:7327587|PMID:7440717|PMID:7639274|PMID:7701914|PMID:7734346|PMID:7803252|PMID:7803274|PMID:7910813|PMID:7947237|PMID:7969150|PMID:8178806|PMID:8192150|PMID:8193381|PMID:8237999|PMID:8460633|PMID:8555062|PMID:8602995|PMID:8756078|PMID:8781536|PMID:8829628|PMID:9057661|PMID:9099846|PMID:9255612|PMID:9322079|PMID:974034 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:1099 alpha thalassemia severity ISO RGD:737064 D RGD:9068941 20230330 RGD associated with Anemia, Sickle Cell; PMID:9604545|REF_RGD_ID:10755568 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:12241 beta thalassemia ISO RGD:737064 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17292142 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:2355 anemia ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:5639009|PMID:7558871 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:2860 hemoglobinopathy ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Abnormal hemoglobin | ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO | ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID | ClinVar Annotator: match by term: HEMOGLOBIN ICARIA | ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY | ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES | ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK | ClinVar Annotator: match by term: HEMOGLOBIN SINAI | ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE | ClinVar Annotator: match by term: Hemoglobin Val de Marne PMID:10722113|PMID:1115799|PMID:11570724|PMID:12393486|PMID:12603094|PMID:13748254|PMID:13968068|PMID:1517104|PMID:15481888|PMID:15813858|PMID:18691171|PMID:18923834|PMID:20507641|PMID:2079430|PMID:2079431|PMID:21637442|PMID:2298455|PMID:23181747|PMID:2372512|PMID:23741188|PMID:24200101|PMID:25130136|PMID:25741868|PMID:25818820|PMID:26365411|PMID:26467025|PMID:26523940|PMID:26635043|PMID:27207683|PMID:2752146|PMID:28160324|PMID:28492532|PMID:29403210|PMID:31025160|PMID:31553106|PMID:32199931|PMID:3384700|PMID:4422784|PMID:486536|PMID:4944483|PMID:5587575|PMID:5713624|PMID:5780195|PMID:5794113|PMID:620088|PMID:6725554|PMID:7096113|PMID:7110343|PMID:7295286|PMID:7803274|PMID:8136277|PMID:8195006|PMID:8294199|PMID:8555062|PMID:8602995|PMID:8811313|PMID:9057661|PMID:9255612|PMID:9629496 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:630 genetic disease ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:8432 polycythemia ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN INKSTER | ClinVar Annotator: match by term: HEMOGLOBIN J (BUDA) PMID:1115799|PMID:11186265|PMID:2227935|PMID:26467025|PMID:2752146|PMID:4212045|PMID:4550395|PMID:7803274 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:9001341 Chloracne ISO RGD:737064 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN PMID:12603095|PMID:15481895|PMID:15658192|PMID:20642338|PMID:23614625|PMID:25741868|PMID:26365411|PMID:26467025|PMID:8237999|PMID:8943885 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:737064 D RGD:9068941 20230330 RGD PMID:18786935|REF_RGD_ID:10449443 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:9003343 Alpha-Thalassemia-2, Nondeletional ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10722113|PMID:11410420|PMID:11570724|PMID:12393486|PMID:1281602|PMID:1581238|PMID:15921163|PMID:16116675|PMID:1634361|PMID:17164653|PMID:18473243|PMID:20507641|PMID:21077766|PMID:21077767|PMID:21637442|PMID:2298455|PMID:23181747|PMID:23368878|PMID:2372512|PMID:23901141|PMID:2468982|PMID:24829075|PMID:25523870|PMID:25741868|PMID:26467025|PMID:26956449|PMID:27271331|PMID:28492532|PMID:3177365|PMID:31933393|PMID:3620699|PMID:4422784|PMID:4623704|PMID:4944483|PMID:6725554|PMID:7327587|PMID:7701914|PMID:7734346|PMID:7969150|PMID:8136277|PMID:8193381|PMID:8555062|PMID:8602995|PMID:9057661|PMID:9322079|PMID:9629496 1359209 Hba-a3 hemoglobin alpha, adult chain 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:737064 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:11722414|PMID:17296578|PMID:20412082|PMID:20507641|PMID:20642338|PMID:23822871|PMID:24275569|PMID:24351118|PMID:24829075|PMID:25741868|PMID:26460264|PMID:26467025|PMID:27173219|PMID:27271331|PMID:8237999|PMID:868864|PMID:9029003 1359211 Dcakd dephospho-CoA kinase domain containing gene DOID:630 genetic disease ISO RGD:1602678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359212 Pir pirin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342511 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359212 Pir pirin gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1359212 Pir pirin gene DOID:12849 autistic disorder ISO RGD:1342511 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359212 Pir pirin gene DOID:13636 Fanconi anemia ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1359212 Pir pirin gene DOID:2773 contact dermatitis ISO RGD:1342511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1359212 Pir pirin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1342511 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1359212 Pir pirin gene DOID:630 genetic disease ISO RGD:1342511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359212 Pir pirin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342511 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359213 Nutf2 nuclear transport factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1359213 Nutf2 nuclear transport factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1359213 Nutf2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:1345837 D RGD:9831377|PMID:19404486 20150304 RGD mRNA:decreased expression:peripheral blood: 1359213 Nutf2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy treatment IDA D RGD:9831377|PMID:19404486 20150304 RGD 1359214 Adgre1 adhesion G protein-coupled receptor E1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1359214 Adgre1 adhesion G protein-coupled receptor E1 gene DOID:630 genetic disease ISO RGD:1342649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359214 Adgre1 adhesion G protein-coupled receptor E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342649 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359216 Heatr5b HEAT repeat containing 5B gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1604000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEATR5B-associated Pontocerebellar hypoplasia PMID:25741868|PMID:33824466 1359216 Heatr5b HEAT repeat containing 5B gene DOID:630 genetic disease ISO RGD:1604000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359217 Plet1 placenta expressed transcript 1 gene DOID:1059 intellectual disability ISO RGD:1343359 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359217 Plet1 placenta expressed transcript 1 gene DOID:630 genetic disease ISO RGD:1343359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359217 Plet1 placenta expressed transcript 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343359 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1359219 Cnot10 CCR4-NOT transcription complex, subunit 10 gene DOID:630 genetic disease ISO RGD:1343563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359220 Klf2 KLF transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1351701 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359220 Klf2 KLF transcription factor 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1351701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases 1359220 Klf2 KLF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359220 Klf2 KLF transcription factor 2 gene DOID:850 lung disease ISO RGD:1351701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21053160 1359220 Klf2 KLF transcription factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351701 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1359221 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1359221 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354334 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359221 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1354334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359221 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354334 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:0060041 autism spectrum disorder ISO RGD:1347903 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:10923 sickle cell anemia ISO RGD:1347903 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:12849 autistic disorder ISO RGD:1347903 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347903 D RGD:1580597|PMID:8812460 19990101 RGD 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:1928 Williams-Beuren syndrome ISS RGD:1552543 D RGD:13592920 20180518 MouseDO OMIM:194050 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:1929 supravalvular aortic stenosis ISO RGD:1347903 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347903 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:5419 schizophrenia ISO RGD:1347903 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:630 genetic disease ISO RGD:1347903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:8445 intestinal volvulus ISO RGD:1347903 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347903 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359222 Eif4h eukaryotic translation initiation factor 4H gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347903 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1359223 Xkrx XK related, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345703 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359223 Xkrx XK related, X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1359223 Xkrx XK related, X-linked gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1359223 Xkrx XK related, X-linked gene DOID:12849 autistic disorder ISO RGD:1345703 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359223 Xkrx XK related, X-linked gene DOID:630 genetic disease ISO RGD:1345703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359223 Xkrx XK related, X-linked gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345703 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1359224 Xkr7 XK related 7 gene DOID:630 genetic disease ISO RGD:1605535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359226 Hgh1 HGH1 homolog gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1359226 Hgh1 HGH1 homolog gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1359226 Hgh1 HGH1 homolog gene DOID:4621 holoprosencephaly ISO RGD:1602718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1359226 Hgh1 HGH1 homolog gene DOID:630 genetic disease ISO RGD:1602718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359227 Ydjc YdjC chitooligosaccharide deacetylase homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1359227 Ydjc YdjC chitooligosaccharide deacetylase homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1604990 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1359227 Ydjc YdjC chitooligosaccharide deacetylase homolog gene DOID:630 genetic disease ISO RGD:1604990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359229 Nt5c3b 5'-nucleotidase, cytosolic IIIB gene DOID:630 genetic disease ISO RGD:1602442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359230 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1359230 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:14701 propionic acidemia ISO RGD:1343017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1359230 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:4621 holoprosencephaly ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1359230 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1343017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359230 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343017 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1359230 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343017 D RGD:2317244|PMID:12730115 20100323 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) 1359231 Tssk3 testis-specific serine kinase 3 gene DOID:630 genetic disease ISO RGD:1347200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359232 Atl1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:7240710 20140911 OMIM 1359232 Atl1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:20862796|PMID:21194679|PMID:25741868|PMID:26467025|PMID:28492532 1359232 Atl1 atlastin GTPase 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352093 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 1359232 Atl1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:7240710 20130221 OMIM 1359232 Atl1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:11685207|PMID:12112092|PMID:12499504|PMID:12939451|PMID:14506257|PMID:14607301|PMID:14695538|PMID:15184642|PMID:15477516|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16533974|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:17531128|PMID:17576681|PMID:17992088|PMID:19423133|PMID:19459885|PMID:19652243|PMID:19735987|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21194679|PMID:21220294|PMID:21321493|PMID:21336785|PMID:21368113|PMID:2255281|PMID:22552817|PMID:22581552|PMID:23079343|PMID:23108492|PMID:23233086|PMID:23334294|PMID:23400676|PMID:23483706|PMID:23684613|PMID:23999326|PMID:24417445|PMID:24451228|PMID:24473461|PMID:24482476|PMID:24604904|PMID:24969372|PMID:25193411|PMID:25326635|PMID:25341883|PMID:25637064|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:26888483|PMID:27993330|PMID:28240257|PMID:28396731|PMID:28492532|PMID:28736820|PMID:29180453|PMID:29691679|PMID:29907907|PMID:29934652|PMID:29980238|PMID:30008475|PMID:30666337|PMID:30773365|PMID:30780198|PMID:31227335|PMID:31236401|PMID:31594988|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32989326|PMID:34546351|PMID:34808209|PMID:4684346|PMID:8252041|PMID:9341882|PMID:9536098 1359232 Atl1 atlastin GTPase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352093 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21194679|PMID:25741868 1359232 Atl1 atlastin GTPase 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1352093 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868 1359232 Atl1 atlastin GTPase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:11685207|PMID:14607301|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:19423133|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21336785|PMID:22581552|PMID:23079343|PMID:23233086|PMID:23334294|PMID:23400676|PMID:24473461|PMID:24482476|PMID:24604904|PMID:25341883|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32581362|PMID:34546351|PMID:34808209|PMID:8252041 1359232 Atl1 atlastin GTPase 1 gene DOID:607 paraplegia ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11685207|PMID:14607301|PMID:15517445|PMID:16537571|PMID:16612642|PMID:17321752|PMID:19459885|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:23079343|PMID:23233086|PMID:24482476|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26467025|PMID:27993330|PMID:28492532|PMID:32581362|PMID:8252041 1359232 Atl1 atlastin GTPase 1 gene DOID:630 genetic disease ISO RGD:1352093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15184642|PMID:15596607|PMID:15742100|PMID:16401858|PMID:17321752|PMID:17502470|PMID:17576681|PMID:19423133|PMID:19459885|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:21194679|PMID:21336785|PMID:22581552|PMID:23079343|PMID:23334294|PMID:23400676|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25341883|PMID:25741868|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:34546351|PMID:34808209|PMID:4684346|PMID:9536098 1359232 Atl1 atlastin GTPase 1 gene DOID:9000704 Lingual Thyroids ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lingual thyroid PMID:32989326 1359232 Atl1 atlastin GTPase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352093 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1359234 Zc3h15 zinc finger CCCH-type containing 15 gene DOID:630 genetic disease ISO RGD:1601751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359234 Zc3h15 zinc finger CCCH-type containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601751 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359236 Pdia5 protein disulfide isomerase family A, member 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1605694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1359236 Pdia5 protein disulfide isomerase family A, member 5 gene DOID:0080600 COVID-19 ISO RGD:1605694 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359236 Pdia5 protein disulfide isomerase family A, member 5 gene DOID:630 genetic disease ISO RGD:1605694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359236 Pdia5 protein disulfide isomerase family A, member 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1605694 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1359236 Pdia5 protein disulfide isomerase family A, member 5 gene DOID:9270 alkaptonuria ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1359237 Myg1 MYG1 exonuclease gene DOID:0050602 triple-A syndrome ISO RGD:1350875 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Achalasia alacrima syndrome 1359238 Hcst hematopoietic cell signal transducer gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1359238 Hcst hematopoietic cell signal transducer gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1359238 Hcst hematopoietic cell signal transducer gene DOID:630 genetic disease ISO RGD:1350033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359239 Serpina11 serpin family A member 11 gene DOID:0081063 DICER1 syndrome ISO RGD:1345910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1359239 Serpina11 serpin family A member 11 gene DOID:118 pericardial effusion ISO RGD:1345910 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Pericardial effusion PMID:25741868 1359239 Serpina11 serpin family A member 11 gene DOID:630 genetic disease ISO RGD:1345910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359239 Serpina11 serpin family A member 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:1345910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:0070168 spermatogenic failure 3 susceptibility ISO RGD:1342668 D RGD:11039404|PMID:24661730 20160302 RGD DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:12858 Huntington's disease ISO RGD:1342668 D RGD:11039484|PMID:25038828 20160304 RGD protein:increased expression:striatum (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342668 D RGD:11039452|PMID:21309690 20160303 RGD DNA:snp:exon:p.P281P (rs2235611) (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:1324 lung cancer ISO RGD:1342668 D RGD:11039482|PMID:23132731 20160304 RGD mRNA:increased expression:lung (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:2234 focal epilepsy ISO RGD:1342668 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:234 colon adenocarcinoma ISO RGD:1342668 D RGD:11039405|PMID:9865741 20160304 RGD mRNA:decreased expression:colon mucosa (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:4159 skin cancer ISO RGD:1342668 D RGD:11039481|PMID:24440982 20160304 RGD protein:increased expression:skin (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1342668 D RGD:11039407|PMID:21082031 20160303 RGD mRNA:altered expression:kidney (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:630 genetic disease ISO RGD:1342668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342668 D RGD:11039469|PMID:23748175 20160304 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) 1359241 Srsf6 serine and arginine rich splicing factor 6 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:1342668 D RGD:11039481|PMID:24440982 20160304 RGD human gene in a mouse model 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602704 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:1148 polydactyly ISO RGD:1602704 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:630 genetic disease ISO RGD:1602704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359242 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602704 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359243 Mtg2 mitochondrial ribosome-associated GTPase 2 gene DOID:630 genetic disease ISO RGD:1344224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:0111254 glutaric acidemia I ISO RGD:1343769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:1037 lymphoid leukemia ISO RGD:1343769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3162254 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:3413 alpha-mannosidosis ISO RGD:1343769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1343769 D RGD:7240710 20200325 OMIM 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:630 genetic disease ISO RGD:1343769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359244 Lyl1 LYL1, basic helix-loop-helix family member gene DOID:9119 acute myeloid leukemia ISO RGD:1343769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32180488|PMID:32348839|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10080174|PMID:11349233|PMID:11494300|PMID:17576681|PMID:19073330|PMID:20818383|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27344648|PMID:28492532|PMID:30090137|PMID:31589614|PMID:31665838|PMID:32180488|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:9536098 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:7240710 20190315 OMIM 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23266820|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28454995|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:30770271|PMID:31589614|PMID:31665838|PMID:32180488|PMID:32445240|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34716721|PMID:34807224|PMID:34906502|PMID:9536098 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:1059 intellectual disability ISO RGD:1350455 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:3652 Leigh disease ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:23631824|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32348839|PMID:33083013|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:630 genetic disease ISO RGD:1350455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20153825|PMID:25741868|PMID:28454995|PMID:28492532|PMID:34906502 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:8398 osteoarthritis ISO RGD:1350455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:33083013|PMID:34134969|PMID:34716721|PMID:34807224|PMID:9536098 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000918 Disease Progression ISO RGD:1350455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350455 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1359247 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1359248 Kif2b kinesin family member 2B gene DOID:630 genetic disease ISO RGD:1351135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359249 Lzts2 leucine zipper tumor suppressor 2 gene DOID:18 urinary system disease ISS RGD:1552566 D RGD:13592920 20180518 MouseDO 1359249 Lzts2 leucine zipper tumor suppressor 2 gene DOID:630 genetic disease ISO RGD:1343241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359250 Ccdc7b coiled-coil domain containing 7B gene DOID:630 genetic disease ISO RGD:1346795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359251 Txndc2 thioredoxin domain containing 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352753 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1359251 Txndc2 thioredoxin domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1352753 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359251 Txndc2 thioredoxin domain containing 2 gene DOID:543 dystonia ISO RGD:1352753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1359251 Txndc2 thioredoxin domain containing 2 gene DOID:630 genetic disease ISO RGD:1352753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359252 Katnal1 katanin catalytic subunit A1 like 1 gene DOID:630 genetic disease ISO RGD:1346255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359253 Ttc9c tetratricopeptide repeat domain 9C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1359253 Ttc9c tetratricopeptide repeat domain 9C gene DOID:1059 intellectual disability ISO RGD:1601809 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359253 Ttc9c tetratricopeptide repeat domain 9C gene DOID:630 genetic disease ISO RGD:1601809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359253 Ttc9c tetratricopeptide repeat domain 9C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1359254 Vps26a VPS26 retromer complex component A gene DOID:630 genetic disease ISO RGD:1343417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359254 Vps26a VPS26 retromer complex component A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343417 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111330 combined saposin deficiency ISO RGD:1350086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28749478|PMID:31680123|PMID:8677029 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:12449 aplastic anemia ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:7240710 20190315 OMIM 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 PMID:16199547|PMID:21791690|PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:28749478|PMID:30327447|PMID:31680123|PMID:31880396|PMID:33931933|PMID:8677029 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:7240710 20141015 OMIM 1359255 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690|PMID:25741868|PMID:28492532 1359256 LOC306766 hypothetical LOC306766 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1359256 LOC306766 hypothetical LOC306766 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1359256 LOC306766 hypothetical LOC306766 gene DOID:630 genetic disease ISO RGD:1601743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359259 Zfp219 zinc finger protein 219 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1359259 Zfp219 zinc finger protein 219 gene DOID:630 genetic disease ISO RGD:1347695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359259 Zfp219 zinc finger protein 219 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1359260 Xkr9 XK related 9 gene DOID:630 genetic disease ISO RGD:1604439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1059 intellectual disability ISO RGD:1347603 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:2746 glycogen storage disease V ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:3070 high grade glioma ISO RGD:1347603 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:630 genetic disease ISO RGD:1347603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347603 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1359261 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1359262 Kyat3 kynurenine aminotransferase 3 gene DOID:630 genetic disease ISO RGD:1606260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359265 Gmcl1 germ cell-less 1, spermatogenesis associated gene DOID:630 genetic disease ISO RGD:1605349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1347426 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1347426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:303 substance-related disorder ISO RGD:1347426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:630 genetic disease ISO RGD:1347426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359266 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 1359267 Ptbp2 polypyrimidine tract binding protein 2 gene DOID:630 genetic disease ISO RGD:1343835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359268 Snip1 Smad nuclear interacting protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605941 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1359268 Snip1 Smad nuclear interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 1359268 Snip1 Smad nuclear interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:28492532|PMID:34570759 1359268 Snip1 Smad nuclear interacting protein 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 1359268 Snip1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:7240710 20140911 OMIM 1359268 Snip1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism PMID:22279524|PMID:25741868|PMID:28492532|PMID:29358611|PMID:34570759 1359269 Cabp7 calcium binding protein 7 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1348796 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1359269 Cabp7 calcium binding protein 7 gene DOID:630 genetic disease ISO RGD:1348796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359269 Cabp7 calcium binding protein 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348796 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 1359270 Alx3 ALX homeobox 3 gene DOID:0080074 neural tube defect ISO RGD:1352384 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:20534379 1359270 Alx3 ALX homeobox 3 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1359270 Alx3 ALX homeobox 3 gene DOID:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19409524 1359270 Alx3 ALX homeobox 3 gene DOID:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontorhiny PMID:17963218|PMID:19409524|PMID:25741868 1359270 Alx3 ALX homeobox 3 gene DOID:0081045 frontonasal dysplasia 1 ISO RGD:1352384 D RGD:7240710 20130221 OMIM 1359270 Alx3 ALX homeobox 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1359270 Alx3 ALX homeobox 3 gene DOID:12849 autistic disorder ISO RGD:1352384 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359270 Alx3 ALX homeobox 3 gene DOID:630 genetic disease ISO RGD:1352384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359271 Metrnl meteorin-like, glial cell differentiation regulator gene DOID:10603 glucose intolerance ISO RGD:1348183 D RGD:11554173 20190611 CTD CTD Direct Evidence: therapeutic PMID:30213948 1359271 Metrnl meteorin-like, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1348183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359271 Metrnl meteorin-like, glial cell differentiation regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359271 Metrnl meteorin-like, glial cell differentiation regulator gene DOID:9004657 Weight Gain ISO RGD:1348183 D RGD:11554173 20190611 CTD CTD Direct Evidence: therapeutic PMID:30213948 1359271 Metrnl meteorin-like, glial cell differentiation regulator gene DOID:9007692 Insulin Resistance ISO RGD:1348183 D RGD:11554173 20190611 CTD CTD Direct Evidence: therapeutic PMID:30213948 1359272 Krt4 keratin 4 gene DOID:0050448 white sponge nevus ISO RGD:1342912 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism 1359272 Krt4 keratin 4 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:7240710 20230201 OMIM 1359272 Krt4 keratin 4 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 PMID:10652003|PMID:12828738|PMID:28492532 1359272 Krt4 keratin 4 gene DOID:2773 contact dermatitis ISO RGD:1342912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1359272 Krt4 keratin 4 gene DOID:630 genetic disease ISO RGD:1342912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359272 Krt4 keratin 4 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1342912 D RGD:1600193|PMID:7493030 20070302 RGD DNA:deletion: ; white sponge nevus, OMIM:193900 1359273 Cldnd1 claudin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359274 Phospho2 phosphatase, orphan 2 gene DOID:630 genetic disease ISO RGD:1603445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359275 Fam228a family with sequence similarity 228, member A gene DOID:630 genetic disease ISO RGD:2303337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359276 Krt82 keratin 82 gene DOID:630 genetic disease ISO RGD:1350237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359277 Smpdl3a sphingomyelin phosphodiesterase, acid-like 3A gene DOID:1826 epilepsy ISO RGD:1347939 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1359277 Smpdl3a sphingomyelin phosphodiesterase, acid-like 3A gene DOID:289 endometriosis ISO RGD:1347939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1359277 Smpdl3a sphingomyelin phosphodiesterase, acid-like 3A gene DOID:630 genetic disease ISO RGD:1347939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:0070048 GAND syndrome ISO RGD:1347233 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347233 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1347233 D RGD:13504714|PMID:17270658 20180118 RGD 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1347233 D RGD:13504715|PMID:11830526 20180118 RGD 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:630 genetic disease ISO RGD:1347233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:8634 prostate carcinoma in situ severity ISO RGD:1347233 D RGD:13504714|PMID:17270658 20180118 RGD 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347233 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1347233 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1359278 Creb3l4 cAMP responsive element binding protein 3-like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347233 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359280 Ccdc86 coiled-coil domain containing 86 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1604295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23828858 1359280 Ccdc86 coiled-coil domain containing 86 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1359280 Ccdc86 coiled-coil domain containing 86 gene DOID:1059 intellectual disability ISO RGD:1604295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359280 Ccdc86 coiled-coil domain containing 86 gene DOID:630 genetic disease ISO RGD:1604295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:1540 parathyroid carcinoma ISO RGD:1347625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:5812 MHC class II deficiency ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:630 genetic disease ISO RGD:1347625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359281 Golph3l golgi phosphoprotein 3-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347625 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359282 Fcmr Fc mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1359282 Fcmr Fc mu receptor gene DOID:0080600 COVID-19 ISO RGD:1603318 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 1359282 Fcmr Fc mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1359282 Fcmr Fc mu receptor gene DOID:12849 autistic disorder ISO RGD:1603318 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359282 Fcmr Fc mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1603318 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359282 Fcmr Fc mu receptor gene DOID:630 genetic disease ISO RGD:1603318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359282 Fcmr Fc mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1359282 Fcmr Fc mu receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603318 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1359282 Fcmr Fc mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603318 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359283 Chpt1 choline phosphotransferase 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1349185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:28492532 1359283 Chpt1 choline phosphotransferase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16292752 1359283 Chpt1 choline phosphotransferase 1 gene DOID:3343 glycoproteinosis ISO RGD:1349185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:16200072|PMID:16465621|PMID:16630736|PMID:19634183|PMID:25741868|PMID:27662472|PMID:28492532 1359283 Chpt1 choline phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359284 Nudt5 nudix hydrolase 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345366 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1359284 Nudt5 nudix hydrolase 5 gene DOID:630 genetic disease ISO RGD:1345366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:1540 parathyroid carcinoma ISO RGD:1344820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:5812 MHC class II deficiency ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:1344820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359289 mrpl24 mitochondrial ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344820 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359291 Vom1r51 vomeronasal 1 receptor 51 gene DOID:630 genetic disease ISO RGD:1318565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359293 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1348884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1359293 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1359293 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:630 genetic disease ISO RGD:1348884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359293 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359293 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:9255 frontotemporal dementia ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 1359295 Rsl1d1 ribosomal L1 domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1350657 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359295 Rsl1d1 ribosomal L1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359296 Wdsub1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346298 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1359296 Wdsub1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:630 genetic disease ISO RGD:1346298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359297 Mapre3 microtubule-associated protein, RP/EB family, member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1359297 Mapre3 microtubule-associated protein, RP/EB family, member 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1359297 Mapre3 microtubule-associated protein, RP/EB family, member 3 gene DOID:630 genetic disease ISO RGD:1343455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359297 Mapre3 microtubule-associated protein, RP/EB family, member 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1343455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1344050 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344050 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344050 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:0111621 Temtamy syndrome ISO RGD:1344050 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:630 genetic disease ISO RGD:1344050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:850 lung disease ISO RGD:1344050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:9000998 Brain Injuries ISO RGD:1344050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 1359298 Clec4e C-type lectin domain family 4, member E gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344050 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359301 Ghitm growth hormone inducible transmembrane protein gene DOID:630 genetic disease ISO RGD:1345873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359303 Armcx6 armadillo repeat containing, X-linked 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352776 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359303 Armcx6 armadillo repeat containing, X-linked 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1352776 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1359303 Armcx6 armadillo repeat containing, X-linked 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1352776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1359303 Armcx6 armadillo repeat containing, X-linked 6 gene DOID:12849 autistic disorder ISO RGD:1352776 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359303 Armcx6 armadillo repeat containing, X-linked 6 gene DOID:630 genetic disease ISO RGD:1352776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359304 Arhgap15 Rho GTPase activating protein 15 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1348610 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 1359304 Arhgap15 Rho GTPase activating protein 15 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1348610 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 1359304 Arhgap15 Rho GTPase activating protein 15 gene DOID:630 genetic disease ISO RGD:1348610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1348717 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:1059 intellectual disability ISO RGD:1348717 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:2773 contact dermatitis ISO RGD:1348717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:630 genetic disease ISO RGD:1348717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:7240710 20190315 OMIM 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Stankiewicz-Isidor syndrome PMID:25741868|PMID:28132691 1359305 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1348717 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 1359307 Septin10 septin 10 gene DOID:0080600 COVID-19 ISO RGD:1606447 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359307 Septin10 septin 10 gene DOID:630 genetic disease ISO RGD:1606447 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359308 Marchf3 membrane associated ring-CH-type finger 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359308 Marchf3 membrane associated ring-CH-type finger 3 gene DOID:630 genetic disease ISO RGD:1344254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359308 Marchf3 membrane associated ring-CH-type finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344254 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359308 Marchf3 membrane associated ring-CH-type finger 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359309 Adad1 adenosine deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359309 Adad1 adenosine deaminase domain containing 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1359309 Adad1 adenosine deaminase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606972 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359310 Atg101 autophagy related 101 gene DOID:219 colon cancer disease_progression ISO RGD:1602213 D RGD:153350092|PMID:34315829 20220907 RGD 1359310 Atg101 autophagy related 101 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1602213 D RGD:153350091|PMID:35592424 20220907 RGD 1359310 Atg101 autophagy related 101 gene DOID:630 genetic disease ISO RGD:1602213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359310 Atg101 autophagy related 101 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602213 D RGD:153350091|PMID:35592424 20220907 RGD 1359310 Atg101 autophagy related 101 gene DOID:9005172 Lung Neoplasms ISO RGD:1602213 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1359311 Tsku tsukushi, small leucine rich proteoglycan gene DOID:1059 intellectual disability ISO RGD:1601763 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359311 Tsku tsukushi, small leucine rich proteoglycan gene DOID:630 genetic disease ISO RGD:1601763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359313 Utp14a UTP14A small subunit processome component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347961 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359313 Utp14a UTP14A small subunit processome component gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1347961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 1359313 Utp14a UTP14A small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1347961 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359313 Utp14a UTP14A small subunit processome component gene DOID:630 genetic disease ISO RGD:1347961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359314 Tmem204 transmembrane protein 204 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1359314 Tmem204 transmembrane protein 204 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1350691 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28492532 1359314 Tmem204 transmembrane protein 204 gene DOID:1826 epilepsy ISO RGD:1350691 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1359314 Tmem204 transmembrane protein 204 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1350691 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359314 Tmem204 transmembrane protein 204 gene DOID:630 genetic disease ISO RGD:1350691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359315 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1359315 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1359315 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:4621 holoprosencephaly ISO RGD:1601952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1359315 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:630 genetic disease ISO RGD:1601952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359316 Mageh1 MAGE family member H1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349577 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359316 Mageh1 MAGE family member H1 gene DOID:12849 autistic disorder ISO RGD:1349577 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359316 Mageh1 MAGE family member H1 gene DOID:630 genetic disease ISO RGD:1349577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:0050726 tyrosinemia type I ISO RGD:1345898 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:2717 Bloom syndrome ISO RGD:1345898 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:37 skin disease ISO RGD:1345898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:630 genetic disease ISO RGD:1345898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1345898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 1359317 Zfand6 zinc finger AN1-type containing 6 gene DOID:9256 colorectal cancer ISO RGD:1345898 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1605894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354437 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1605894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25741868 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:0050545 visceral heterotaxy ISS RGD:1617201 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:7240710 20140911 OMIM 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 PMID:12746204|PMID:16199547|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:7240710 20230215 OMIM 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 80 PMID:34169321 1359318 Drc1 dynein regulatory complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:12746204|PMID:16199547|PMID:17576681|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620|PMID:9536098 1359319 Oas3 2'-5'-oligoadenylate synthetase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1347854 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1359319 Oas3 2'-5'-oligoadenylate synthetase 3 gene DOID:630 genetic disease ISO RGD:1347854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359319 Oas3 2'-5'-oligoadenylate synthetase 3 gene DOID:9001488 Human Influenza ISO RGD:1347854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1359320 C11h3orf38 similar to human chromosome 3 open reading frame 38 gene DOID:630 genetic disease ISO RGD:1602632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359321 Gnb4 G protein subunit beta 4 gene DOID:0060224 atrial fibrillation ISO RGD:1348614 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1359321 Gnb4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:7240710 20140911 OMIM 1359321 Gnb4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F PMID:16199547|PMID:17576681|PMID:23434117|PMID:25741868|PMID:27549087|PMID:27908631|PMID:28166811|PMID:28492532|PMID:28642160|PMID:31211173|PMID:34071515|PMID:9536098 1359321 Gnb4 G protein subunit beta 4 gene DOID:0111546 Currarino syndrome ISO RGD:1348614 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1359321 Gnb4 G protein subunit beta 4 gene DOID:1389 polyneuropathy ISO RGD:1348614 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 1359321 Gnb4 G protein subunit beta 4 gene DOID:630 genetic disease ISO RGD:1348614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359321 Gnb4 G protein subunit beta 4 gene DOID:6457 Cowden syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 1359321 Gnb4 G protein subunit beta 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348614 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1359323 Abhd6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1351429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359323 Abhd6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1351429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1359324 Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:10283 prostate cancer ISO RGD:1342953 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1359324 Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:630 genetic disease ISO RGD:1342953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359324 Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1359325 Jpt1 Jupiter microtubule associated homolog 1 gene DOID:630 genetic disease ISO RGD:1348734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347196 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:12849 autistic disorder ISO RGD:1347196 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:630 genetic disease ISO RGD:1347196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359326 Uxt ubiquitously-expressed, prefoldin-like chaperone gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347196 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19318562 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604847 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:7240710 20201202 OMIM 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VEXAS syndrome PMID:25741868|PMID:28492532|PMID:33108101|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:7240710 20130221 OMIM 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy PMID:16199547|PMID:17576681|PMID:18179898|PMID:20301739|PMID:25075304|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29034082|PMID:32181232|PMID:33108101|PMID:33369814|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:9536098 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604847 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:12849 autistic disorder ISO RGD:1604847 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1604847 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18179898|PMID:20301739|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33108101|PMID:33690815|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:9536098 1359327 Uba1 ubiquitin-like modifier activating enzyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604847 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359329 Pdcd10 programmed cell death 10 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:1351056 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:28492532 1359329 Pdcd10 programmed cell death 10 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:15543491|PMID:18035376|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:25741868|PMID:26896283|PMID:28492532 1359329 Pdcd10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:7240710 20130425 OMIM 1359329 Pdcd10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 PMID:15543491|PMID:16199547|PMID:16329096|PMID:17576681|PMID:18035376|PMID:18060436|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:24466005|PMID:24689081|PMID:25122144|PMID:25354366|PMID:25741868|PMID:26246098|PMID:26896283|PMID:28492532|PMID:30161288|PMID:9536098 1359329 Pdcd10 programmed cell death 10 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351056 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 1359329 Pdcd10 programmed cell death 10 gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1351056 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:25741868 1359329 Pdcd10 programmed cell death 10 gene DOID:630 genetic disease ISO RGD:1351056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24689081|PMID:28492532 1359331 Rabif RAB interacting factor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1359331 Rabif RAB interacting factor gene DOID:1540 parathyroid carcinoma ISO RGD:1344362 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359331 Rabif RAB interacting factor gene DOID:630 genetic disease ISO RGD:1344362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359331 Rabif RAB interacting factor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1359331 Rabif RAB interacting factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344362 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359332 Odf4 outer dense fiber of sperm tails 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 1359332 Odf4 outer dense fiber of sperm tails 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1359332 Odf4 outer dense fiber of sperm tails 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1359332 Odf4 outer dense fiber of sperm tails 4 gene DOID:630 genetic disease ISO RGD:1346133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359333 Tcta T-cell leukemia translocation altered gene DOID:0060852 Pierson syndrome ISO RGD:1342729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1359333 Tcta T-cell leukemia translocation altered gene DOID:630 genetic disease ISO RGD:1342729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359333 Tcta T-cell leukemia translocation altered gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342729 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1359333 Tcta T-cell leukemia translocation altered gene DOID:9268 glycine encephalopathy ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:1540 parathyroid carcinoma ISO RGD:1603033 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:5812 MHC class II deficiency ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:630 genetic disease ISO RGD:1603033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359334 C2h1orf56 similar to human chromosome 1 open reading frame 56 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603033 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359335 Xkr5 XK related 5 gene DOID:630 genetic disease ISO RGD:1604445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359336 St7l suppression of tumorigenicity 7-like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1342887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1359336 St7l suppression of tumorigenicity 7-like gene DOID:630 genetic disease ISO RGD:1342887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0050476 Barth syndrome ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0050800 creatine transporter deficiency ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISS RGD:1550149 D RGD:13592920 20180518 MouseDO OMIM:302950 | OMIM:302960 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1343590 D RGD:2316868|PMID:12668600 20100302 RGD 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:7240710 20130221 OMIM 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Child syndrome PMID:10710235|PMID:11907515|PMID:12966526|PMID:14527740|PMID:15689440|PMID:18414213|PMID:18825599|PMID:19906044|PMID:21290788|PMID:25093865|PMID:25741868|PMID:26459993|PMID:28492532 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:7240710 20130221 OMIM 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CK syndrome PMID:18414213|PMID:19377476|PMID:21129721|PMID:21290788|PMID:25741868|PMID:28492532 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:10588 adrenoleukodystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:1059 intellectual disability ISO RGD:1343590 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:12305 Bloch-Sulzberger syndrome ISS RGD:1550149 D RGD:13592920 20200109 MouseDO OMIM:308300 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:12849 autistic disorder ISO RGD:1343590 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:13628 favism ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:1826 epilepsy ISO RGD:1343590 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:2729 dyskeratosis congenita ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343590 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23125191 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:607 paraplegia ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:630 genetic disease ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:65 connective tissue disease ISO RGD:1343590 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 1359337 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:9004538 Hearing Loss ISO RGD:1343590 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602683 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:0111816 syndactyly type 1 ISO RGD:1602683 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Syndactyly type 1 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:1148 polydactyly ISO RGD:1602683 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:1417 choroid disease ISO RGD:12356698 D RGD:9068941 20230330 OMIA Collie eye anomaly PMID:10701187|PMID:10879403|PMID:11327669|PMID:120471|PMID:12809679|PMID:14268789|PMID:14437837|PMID:16178848|PMID:17204124|PMID:17916641|PMID:19946851|PMID:20807925|PMID:22051190|PMID:22065099|PMID:24939474|PMID:26346323|PMID:26732749|PMID:27387721|PMID:28702949|PMID:29111596|PMID:31684941|PMID:34544496|PMID:35092136|PMID:35127102|PMID:35369581|PMID:36848350|PMID:4631461|PMID:480920|PMID:4959239|PMID:4980211|PMID:4980212|PMID:4992161|PMID:4994718|PMID:5884039|PMID:5949333|PMID:6777963|PMID:6787732|PMID:6812274|PMID:7147637|PMID:9800301 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:630 genetic disease ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602683 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:7240710 20130221 OMIM 1359338 Nhej1 nonhomologous end-joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency PMID:12604777|PMID:16199547|PMID:16439204|PMID:16439205|PMID:16571728|PMID:17317666|PMID:17576681|PMID:20597108|PMID:25661488|PMID:25741868|PMID:26122175|PMID:26193622|PMID:28492532|PMID:28741180|PMID:31130284|PMID:31589614|PMID:9536098 1359339 Pacc1 proton activated chloride channel 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602479 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359339 Pacc1 proton activated chloride channel 1 gene DOID:630 genetic disease ISO RGD:1602479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359339 Pacc1 proton activated chloride channel 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602479 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359343 Rbm4b RNA binding motif protein 4B gene DOID:1059 intellectual disability ISO RGD:1351687 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359343 Rbm4b RNA binding motif protein 4B gene DOID:630 genetic disease ISO RGD:1351687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359343 Rbm4b RNA binding motif protein 4B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1351687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1359343 Rbm4b RNA binding motif protein 4B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1351687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1359345 Cavin2 caveolae associated protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1348108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25792468 1359345 Cavin2 caveolae associated protein 2 gene DOID:630 genetic disease ISO RGD:1348108 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359345 Cavin2 caveolae associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348108 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:0060158 acquired metabolic disease ISS RGD:1552153 D RGD:13592920 20210401 MouseDO 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350151 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:10763 hypertension IEP D RGD:2314351|PMID:18725581 20091111 RGD protein:increased expression:kidney 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:630 genetic disease ISO RGD:1350151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:9003936 Cardiomegaly IEP D RGD:2314351|PMID:18725581 20091111 RGD 1359346 Agtrap angiotensin II receptor-associated protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350151 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1359348 Prrt1 proline-rich transmembrane protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1345386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359348 Prrt1 proline-rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359349 Tmem252 transmembrane protein 252 gene DOID:630 genetic disease ISO RGD:1353835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359352 Ik IK cytokine gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347168 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1359352 Ik IK cytokine gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359352 Ik IK cytokine gene DOID:630 genetic disease ISO RGD:1347168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359352 Ik IK cytokine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347168 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359352 Ik IK cytokine gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359353 Tex264 testis expressed 264 gene DOID:630 genetic disease ISO RGD:1347640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1349387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1349387 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1349387 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1349387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:0111621 Temtamy syndrome ISO RGD:1349387 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:630 genetic disease ISO RGD:1349387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359354 Clec4b2 C-type lectin domain family 4, member B2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1349387 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359355 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:4450 renal cell carcinoma ISO RGD:1354089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1359355 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:630 genetic disease ISO RGD:1354089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359355 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9000217 Stomach Neoplasms ISO RGD:1354089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359355 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9000918 Disease Progression ISO RGD:1354089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359355 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1359355 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1354089 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346231 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346231 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346231 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359356 Mxra8 matrix remodeling associated 8 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359356 Mxra8 matrix remodeling associated 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346231 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359356 Mxra8 matrix remodeling associated 8 gene DOID:630 genetic disease ISO RGD:1346231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359356 Mxra8 matrix remodeling associated 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346231 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359356 Mxra8 matrix remodeling associated 8 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346231 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359356 Mxra8 matrix remodeling associated 8 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359357 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1602633 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1359357 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1602633 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:23522784|PMID:25558065|PMID:25741868 1359357 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:630 genetic disease ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359357 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:7240710 20140911 OMIM 1359357 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 4 PMID:16199547|PMID:17576681|PMID:23522784|PMID:23860037|PMID:25488668|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29924900|PMID:31368252|PMID:31654484|PMID:34782754|PMID:9536098 1359359 Sapcd1 suppressor APC domain containing 1 gene DOID:0050553 JMP syndrome ISO RGD:1352760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359359 Sapcd1 suppressor APC domain containing 1 gene DOID:630 genetic disease ISO RGD:1352760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359360 Mef2a myocyte enhancer factor 2a gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1322126 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1359360 Mef2a myocyte enhancer factor 2a gene DOID:12930 dilated cardiomyopathy ISO RGD:1322126 D RGD:1580546|PMID:16469744 20081002 RGD 1359360 Mef2a myocyte enhancer factor 2a gene DOID:3393 coronary artery disease ISO RGD:1322126 D RGD:1580548|PMID:15811259 20081002 RGD 1359360 Mef2a myocyte enhancer factor 2a gene DOID:5844 myocardial infarction ISO RGD:1322126 D RGD:1580548|PMID:15811259 20081002 RGD 1359360 Mef2a myocyte enhancer factor 2a gene DOID:630 genetic disease ISO RGD:1322126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359360 Mef2a myocyte enhancer factor 2a gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312263|PMID:18413674 20110505 RGD mRNA:increased expression:heart 1359360 Mef2a myocyte enhancer factor 2a gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:7240710 20130425 OMIM 1359360 Mef2a myocyte enhancer factor 2a gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction PMID:14645853|PMID:15496429|PMID:15841183 1359361 Slc25a37 solute carrier family 25 member 37 gene DOID:2355 anemia ISO RGD:1605395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253756 1359361 Slc25a37 solute carrier family 25 member 37 gene DOID:630 genetic disease ISO RGD:1605395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359361 Slc25a37 solute carrier family 25 member 37 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:10327 anthracosis ISO RGD:1343894 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1343894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1343894 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343894 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1359362 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1343894 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1359363 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1359363 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1349137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359363 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1359363 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1349137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0110031 hemoglobin H disease ISO RGD:1351471 D RGD:7240710 20171018 OMIM 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0110031 hemoglobin H disease ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10569720|PMID:11410420|PMID:15182058|PMID:1686260|PMID:1787098|PMID:19636270|PMID:20147853|PMID:21599435|PMID:24081251|PMID:24200101|PMID:25342395|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:27173219|PMID:27207683|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29477874|PMID:29749692|PMID:31111755|PMID:31113390|PMID:3384694|PMID:6153381|PMID:8237999|PMID:9029003 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0111363 Heinz body anemia ISO RGD:1351471 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:2833478 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0111363 Heinz body anemia ISO RGD:1351471 D RGD:7240710 20160106 OMIM 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0111363 Heinz body anemia ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heinz body anemia PMID:11074535|PMID:11410420|PMID:12403490|PMID:15182058|PMID:16798638|PMID:1686260|PMID:17486500|PMID:1787098|PMID:18420733|PMID:19349619|PMID:21599435|PMID:21950764|PMID:22738642|PMID:24081251|PMID:24111644|PMID:24200101|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26329872|PMID:26467025|PMID:26485748|PMID:26715484|PMID:27207683|PMID:27577202|PMID:28125089|PMID:2833478|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:31693295|PMID:3384694|PMID:5639009|PMID:6153381|PMID:7470621|PMID:7558871|PMID:8251382 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0111631 familial erythrocytosis 7 ISO RGD:1351471 D RGD:7240710 20190315 OMIM 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:0111631 familial erythrocytosis 7 ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 PMID:11123|PMID:11410420|PMID:1390944|PMID:1428951|PMID:1517114|PMID:15182058|PMID:1634355|PMID:1686260|PMID:1787098|PMID:21599435|PMID:2268670|PMID:24081251|PMID:24200101|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26193976|PMID:26467025|PMID:26715484|PMID:27207683|PMID:27577202|PMID:28125089|PMID:28506685|PMID:29477874|PMID:31111755|PMID:31113390|PMID:3142772|PMID:3384694|PMID:3583768|PMID:3667323|PMID:3718876|PMID:5913291|PMID:5967288|PMID:5988206|PMID:6153381|PMID:6188720|PMID:701083|PMID:701092|PMID:7213661|PMID:7518430|PMID:8745434|PMID:9494049 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:10241 thalassemia ISO RGD:1351471 D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE PMID:7786798 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:10783 methemoglobinemia ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3026948 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:1099 alpha thalassemia ISO RGD:1351471 D RGD:10449442|PMID:4044827 20160104 RGD 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:1099 alpha thalassemia ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16798638 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:1099 alpha thalassemia ISO RGD:1351471 D RGD:7240710 20160106 OMIM 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:1099 alpha thalassemia ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN PETAH TIKVA | ClinVar Annotator: match by term: alpha Thalassemia PMID:10569720|PMID:10602170|PMID:11017952|PMID:11074535|PMID:11410420|PMID:11558897|PMID:12393486|PMID:12403490|PMID:13500096|PMID:13510789|PMID:13536534|PMID:13703277|PMID:13863929|PMID:1428945|PMID:1487419|PMID:14978697|PMID:15008259|PMID:15182058|PMID:15365991|PMID:1553958|PMID:15650030|PMID:16590776|PMID:16798638|PMID:1686260|PMID:17486500|PMID:1787098|PMID:18420733|PMID:19349619|PMID:19636270|PMID:20144601|PMID:20147853|PMID:20154289|PMID:20615730|PMID:21045395|PMID:21599435|PMID:21950764|PMID:2197725|PMID:22638758|PMID:22738642|PMID:22924376|PMID:2318293|PMID:23402770|PMID:23590659|PMID:23668236|PMID:23806041|PMID:24025420|PMID:24081251|PMID:24111644|PMID:24200101|PMID:24432778|PMID:24826792|PMID:24870139|PMID:25109349|PMID:25342395|PMID:25354131|PMID:25370869|PMID:2544542|PMID:2566576|PMID:25669128|PMID:25741868|PMID:25818820|PMID:25897478|PMID:26114741|PMID:26193976|PMID:26329872|PMID:26467025|PMID:26485748|PMID:26635043|PMID:26715484|PMID:26878087|PMID:26911300|PMID:27173219|PMID:27207683|PMID:27577202|PMID:27821014|PMID:28125089|PMID:28506685|PMID:28526955|PMID:28791910|PMID:2882671|PMID:28865746|PMID:29477874|PMID:29484903|PMID:29749692|PMID:2986746|PMID:30864493|PMID:31111755|PMID:31113390|PMID:31304855|PMID:31553106|PMID:31693295|PMID:3191033|PMID:32448026|PMID:32597250|PMID:32769347|PMID:33059511|PMID:3384694|PMID:33887194|PMID:3583768|PMID:3754245|PMID:3793931|PMID:4503918|PMID:4503919|PMID:4646552|PMID:4986187|PMID:508945|PMID:5169069|PMID:5288820|PMID:538560|PMID:5410724|PMID:5460202|PMID:5475469|PMID:5870555|PMID:5960254|PMID:6153381|PMID:6158051|PMID:6255436|PMID:640847|PMID:646867|PMID:6725558|PMID:6882779|PMID:7068434|PMID:7440717|PMID:7448125|PMID:7470621|PMID:7639274|PMID:7786798|PMID:7803274|PMID:7910813|PMID:8192150|PMID:8237999|PMID:8251382|PMID:8460633|PMID:8745434|PMID:8781536|PMID:9029003|PMID:9099846|PMID:949043 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:1599361|PMID:6490612 20070131 RGD DNA:point mutation:exon:p.M1T (human) 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:12241 beta thalassemia ISO RGD:1351471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) PMID:21045395|PMID:25354131|PMID:26467025|PMID:27207683|PMID:28526955|PMID:31553106|PMID:32448026|PMID:32597250|PMID:32769347|PMID:33059511|PMID:33887194|PMID:4646552|PMID:7803274|PMID:949043 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:2355 anemia ISO RGD:1351471 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:5639009|PMID:7558871 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:2860 hemoglobinopathy ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ADANA | ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA | ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO | ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 | ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS) | ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE PMID:10569720|PMID:11558897|PMID:12403494|PMID:13500096|PMID:13536534|PMID:13863929|PMID:15481890|PMID:16590776|PMID:19636270|PMID:20147853|PMID:25342395|PMID:26467025|PMID:27173219|PMID:29749692|PMID:4503918|PMID:4503919|PMID:4986187|PMID:5288820|PMID:5452727|PMID:646867|PMID:740406|PMID:8237999|PMID:9029003|PMID:943846 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:305 carcinoma ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:3526 cerebral infarction ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1634355 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:630 genetic disease ISO RGD:1351471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:8432 polycythemia ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1634355 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:8432 polycythemia ISO RGD:1351471 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN G (PEST) PMID:2227935|PMID:25818820|PMID:26467025|PMID:26635043|PMID:4550395|PMID:6814490|PMID:893135 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:8997 polycythemia vera ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1634355 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9001201 Methemoglobinemia, Alpha-Globin Type ISO RGD:1351471 D RGD:7240710 20160106 OMIM 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9001341 Chloracne ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:1351471 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type PMID:11791872 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:1351471 D RGD:10449443|PMID:18786935 20160104 RGD 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9003343 Alpha-Thalassemia-2, Nondeletional ISO RGD:1351471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional PMID:10569720|PMID:19636270|PMID:20147853|PMID:25342395|PMID:26467025|PMID:27173219|PMID:29749692|PMID:8237999|PMID:9029003 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 1359364 Hba-a2 hemoglobin alpha, adult chain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16632892 1359365 Rcn3 reticulocalbin 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1359365 Rcn3 reticulocalbin 3 gene DOID:630 genetic disease ISO RGD:1346169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359365 Rcn3 reticulocalbin 3 gene DOID:8398 osteoarthritis ISO RGD:1346169 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1354229 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:25741868|PMID:31268215 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:2349 arteriosclerosis ISO RGD:1552173 D RGD:1601111|PMID:16675724 20070406 RGD 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1354229 D RGD:1601112|PMID:16195894 20070406 RGD DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1354229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1552173 D RGD:1556516|PMID:11100118 20180827 RGD 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354229 D RGD:1581921|PMID:14557872 20070406 RGD DNA:polymorphism 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:7240710 20141015 OMIM 1359366 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency PMID:25741868 1359367 Fbxo30 F-box protein 30 gene DOID:630 genetic disease ISO RGD:1347238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0050557 congenital muscular dystrophy ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29260090|PMID:29382405 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0050560 Walker-Warburg syndrome ISO RGD:3160581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22522420|PMID:22522421 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0080000 muscular disease ISO RGD:3160581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:7240710 20180808 OMIM 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31909476 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:3160581 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:7240710 20140911 OMIM 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:10738921|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22522420|PMID:22522421|PMID:23217329|PMID:2328832|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:2522420|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083|PMID:29260090|PMID:29382405|PMID:30564623|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:7604843|PMID:9492098|PMID:9536098 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:3160581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:22522420|PMID:2522420|PMID:25741868|PMID:28492532 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:10908 hydrocephalus ISO RGD:3160581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3160581 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359368 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:9008296 Eye Abnormalities ISO RGD:3160581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 1359369 Ccin calicin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1359369 Ccin calicin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1359369 Ccin calicin gene DOID:0080942 anauxetic dysplasia ISO RGD:1343153 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1359369 Ccin calicin gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1343153 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1359369 Ccin calicin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343153 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1359369 Ccin calicin gene DOID:630 genetic disease ISO RGD:1343153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359369 Ccin calicin gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1343153 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1359369 Ccin calicin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1359369 Ccin calicin gene DOID:9870 galactosemia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0050553 JMP syndrome ISO RGD:1347478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16459341|PMID:25741868|PMID:30177809|PMID:30298622|PMID:30303587 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1347478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive PMID:27148795 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30177809 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:7240710 20130221 OMIM 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 67 PMID:16459341|PMID:16752389|PMID:24033266|PMID:25741868|PMID:27148795|PMID:28492532|PMID:30177809|PMID:30298622|PMID:30303587|PMID:32747562 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:1059 intellectual disability ISO RGD:1347478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:27148795 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:630 genetic disease ISO RGD:1347478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359370 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:9004538 Hearing Loss ISO RGD:1347478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:28492532|PMID:30311386 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:2366 West Nile fever severity ISO RGD:1614930 D RGD:40903045|PMID:28094802 20210106 RGD 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:3298 vaccinia treatment ISO RGD:1614930 D RGD:40903043|PMID:26849062 20210106 RGD 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:3482 plague susceptibility ISO RGD:1614930 D RGD:40903046|PMID:25064677 20210106 RGD 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:630 genetic disease ISO RGD:1606258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:8469 influenza treatment ISO RGD:1614930 D RGD:40902992|PMID:31461653 20201221 RGD 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:9000371 influenza A disease_progression ISO RGD:1614930 D RGD:40903047|PMID:27438481 20210106 RGD 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:9000645 Rotavirus Infections severity ISO RGD:1614930 D RGD:40903048|PMID:30460894 20210106 RGD 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1606258 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1359371 Mavs mitochondrial antiviral signaling protein gene DOID:9005757 Metapneumovirus infections severity ISO RGD:1614930 D RGD:40903044|PMID:25953917 20210106 RGD 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353926 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1353926 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050730 coenzyme Q10 deficiency disease ISS RGD:1615065 D RGD:13592920 20180518 MouseDO OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:7240710 20140911 OMIM 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 PMID:17186472|PMID:17374725|PMID:19096106|PMID:20495179|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:1184 nephrotic syndrome ISO RGD:1353926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:557 kidney disease ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:630 genetic disease ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359372 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:9001753 Hypomyelinating Leukodystrophy 24 ISO RGD:1353926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1359376 Kng1 kininogen 1 gene DOID:7693 abdominal aortic aneurysm IAGP D RGD:1302825|PMID:15238617 20201001 RGD DNA:SNP:487G>A 1359376 Kng1 kininogen 1 gene DOID:9007477 Kininogen Deficiency, High Molecular Weight and Low Molecular Weight IAGP D RGD:68697|PMID:11208766 20200207 RGD DNA:mutation:cds:p.Ala163Thr (rat) 1359378 Them6 thioesterase superfamily member 6 gene DOID:630 genetic disease ISO RGD:1602485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359380 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:7240710 20190315 OMIM 1359380 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:35091571 1359380 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1359380 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1351318 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 1359380 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359383 Rassf1 Ras association domain family member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24146755 1359383 Rassf1 Ras association domain family member 1 gene DOID:0050685 small cell carcinoma ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1359383 Rassf1 Ras association domain family member 1 gene DOID:0050902 medulloblastoma ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21880625 1359383 Rassf1 Ras association domain family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1359383 Rassf1 Ras association domain family member 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343966 D RGD:2299865|PMID:17960617 20080818 RGD DNA:hypermethylation:promoter 1359383 Rassf1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 1359383 Rassf1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:2299860|PMID:18702824 20080818 RGD DNA:hypermethylation 1359383 Rassf1 Ras association domain family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19652091 1359383 Rassf1 Ras association domain family member 1 gene DOID:1395 schistosomiasis ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 1359383 Rassf1 Ras association domain family member 1 gene DOID:1612 breast cancer ISO RGD:1343966 D RGD:2299869|PMID:18425370 20080818 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast 1359383 Rassf1 Ras association domain family member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1343966 D RGD:2299868|PMID:18483325 20080818 RGD DNA:hypermethylation 1359383 Rassf1 Ras association domain family member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1343966 D RGD:2299867|PMID:16545186 20080818 RGD DNA:hypermethylation:promoter 1359383 Rassf1 Ras association domain family member 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1343966 D RGD:2299862|PMID:18480993 20080818 RGD DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder 1359383 Rassf1 Ras association domain family member 1 gene DOID:2871 endometrial carcinoma ISO RGD:1343966 D RGD:2299863|PMID:18469797 20080818 RGD DNA, protein:hypermethylation, decreased expression:promoter, 1359383 Rassf1 Ras association domain family member 1 gene DOID:299 adenocarcinoma ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 1359383 Rassf1 Ras association domain family member 1 gene DOID:3070 high grade glioma ISO RGD:1343966 D RGD:2291979|PMID:17325427 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:365 bladder disease ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 1359383 Rassf1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 1359383 Rassf1 Ras association domain family member 1 gene DOID:4362 cervical cancer ISO RGD:1343966 D RGD:2299861|PMID:18608185 20080818 RGD associated with Papillomavirus Infections;DNA:hypermethylation:promoter 1359383 Rassf1 Ras association domain family member 1 gene DOID:4450 renal cell carcinoma ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:4450 renal cell carcinoma ISO RGD:1343966 D RGD:2299866|PMID:17645803 20080818 RGD DNA:hypermethylation:promoter 1359383 Rassf1 Ras association domain family member 1 gene DOID:630 genetic disease ISO RGD:1343966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359383 Rassf1 Ras association domain family member 1 gene DOID:769 neuroblastoma ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:769 neuroblastoma ISO RGD:1343966 D RGD:2291979|PMID:17325427 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008439 1359383 Rassf1 Ras association domain family member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1343966 D RGD:2291979|PMID:17325427 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343966 D RGD:2291979|PMID:17325427 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9003566 Mesothelioma ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12082623|PMID:15639718 1359383 Rassf1 Ras association domain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 1359383 Rassf1 Ras association domain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343966 D RGD:2291979|PMID:17325427 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 1359383 Rassf1 Ras association domain family member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1343966 D RGD:2291977|PMID:12222680 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1343966 D RGD:2291979|PMID:17325427 20080408 RGD 1359383 Rassf1 Ras association domain family member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1359384 Galc galactosylceramidase gene DOID:0050952 spastic ataxia ISO RGD:1347926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26795590|PMID:27638593|PMID:28492532|PMID:32576985|PMID:34445196 1359384 Galc galactosylceramidase gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1347926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 1359384 Galc galactosylceramidase gene DOID:10579 leukodystrophy ISO RGD:1347926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:22520351|PMID:25741868|PMID:27638593|PMID:28492532|PMID:29286531|PMID:8940268|PMID:9338580 1359384 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:7240710 20130221 OMIM 1359384 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 1359384 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 1359384 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32342562|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 1359384 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1552188 D RGD:38599167|PMID:2120388 20200911 RGD 1359384 Galc galactosylceramidase gene DOID:1059 intellectual disability ISO RGD:1347926 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1359384 Galc galactosylceramidase gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347926 D RGD:38599170|PMID:30009661 20200911 RGD mRNA:decreased expression:frontal cortex (human) 1359384 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:38599168|PMID:27490360 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:serum (human) 1359384 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:38599169|PMID:12225900 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:serum (human) 1359384 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:38599171|PMID:30396892 20200911 RGD protein:increased expression:serum (human) 1359384 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:38599172|PMID:29301655 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) 1359384 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1552188 D RGD:38599171|PMID:30396892 20200911 RGD protein:increased expression:serum (mouse) 1359384 Galc galactosylceramidase gene DOID:630 genetic disease ISO RGD:1347926 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:23319190|PMID:24252386|PMID:24297913|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27171547|PMID:27638583|PMID:27638592|PMID:27638593|PMID:28492532|PMID:30777126|PMID:32089546|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:8281145|PMID:8399327|PMID:8940268|PMID:9338580|PMID:9536098 1359384 Galc galactosylceramidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359384 Galc galactosylceramidase gene DOID:9006534 Nervous System Malformations ISO RGD:1347926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 1359385 Dner delta/notch-like EGF repeat containing gene DOID:630 genetic disease ISO RGD:1605895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359386 Rnase13 ribonuclease A family member 13 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1359386 Rnase13 ribonuclease A family member 13 gene DOID:630 genetic disease ISO RGD:1344390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359386 Rnase13 ribonuclease A family member 13 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1359387 Tcp11 t-complex 11 gene DOID:0050553 JMP syndrome ISO RGD:1351114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359387 Tcp11 t-complex 11 gene DOID:630 genetic disease ISO RGD:1351114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359389 Tmem18 transmembrane protein 18 gene DOID:630 genetic disease ISO RGD:1344776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359389 Tmem18 transmembrane protein 18 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344776 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1359389 Tmem18 transmembrane protein 18 gene DOID:9970 obesity ISO RGD:1344776 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 1359391 Ficd FIC domain protein adenylyltransferase gene DOID:630 genetic disease ISO RGD:1602333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359392 Desi2 desumoylating isopeptidase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603047 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1359392 Desi2 desumoylating isopeptidase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603047 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359392 Desi2 desumoylating isopeptidase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1603047 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21667029 1359392 Desi2 desumoylating isopeptidase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 1359392 Desi2 desumoylating isopeptidase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603047 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359394 Trub2 TruB pseudouridine synthase family member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1359394 Trub2 TruB pseudouridine synthase family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1359394 Trub2 TruB pseudouridine synthase family member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1359394 Trub2 TruB pseudouridine synthase family member 2 gene DOID:630 genetic disease ISO RGD:1346955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359395 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603691 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359395 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603691 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 1359395 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:630 genetic disease ISO RGD:1603691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359395 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603691 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050453 lissencephaly ISO RGD:1601994 D RGD:11065022|PMID:17559086 20160916 RGD DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050557 congenital muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:11065512|PMID:22554691 20160907 RGD DNA:deletions, splice-site mutation:exon, intron:multiple 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:11071487|PMID:15236414 20160907 RGD DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human) 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:11532772|PMID:23689641 20160907 RGD DNA:missense mutations, nonsense mutation: :multiple 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:11554173 20190709 CTD CTD Direct Evidence: marker/mechanism 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:1554293|PMID:11709191 20160907 RGD DNA:missense mutations, splice-site mutations, deletions: :multiple 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISS RGD:1601994 D RGD:13592920 20220602 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0060041 autism spectrum disorder ISO RGD:1601994 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601994 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:22554691|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29302074|PMID:29555514|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:7240710 20130221 OMIM 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22419172|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1601994 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:7240710 20190703 OMIM 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29555514|PMID:30961548|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:7240710 20130221 OMIM 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:1059 intellectual disability ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:10908 hydrocephalus ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:630 genetic disease ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:7240710 20190315 OMIM 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:9536098 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9005603 Muscle Hypotonia ISO RGD:1601994 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hypotonia 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9006534 Nervous System Malformations ISO RGD:1601994 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9007402 Gliosis ISO RGD:1553166 D RGD:11532765|PMID:21970971 20160907 RGD 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9281 phenylketonuria ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 1359396 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9884 muscular dystrophy ISO RGD:1601994 D RGD:1599152|PMID:17030669 20070117 RGD DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) 1359397 Mrpl34 mitochondrial ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1345591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:0080685 aortic dissection ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:3144 cutis laxa ISO RGD:1603357 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1603357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:65 connective tissue disease ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:1603357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9002884 Emphysema ISO RGD:1603357 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603357 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9005883 Pleural Effusion ISO RGD:1603357 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 1359398 Srfbp1 serum response factor binding protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1603357 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868 1359399 Gpc4 glypican 4 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1347282 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1359399 Gpc4 glypican 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347282 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359399 Gpc4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:7240710 20190626 OMIM 1359399 Gpc4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Keipert syndrome PMID:25741868|PMID:30982611|PMID:4708024 1359399 Gpc4 glypican 4 gene DOID:12849 autistic disorder ISO RGD:1347282 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359399 Gpc4 glypican 4 gene DOID:2154 nephroblastoma ISO RGD:1347282 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1359399 Gpc4 glypican 4 gene DOID:630 genetic disease ISO RGD:1347282 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359399 Gpc4 glypican 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 1359399 Gpc4 glypican 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347282 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1359402 Krt84 keratin 84 gene DOID:630 genetic disease ISO RGD:1343377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1349444 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to PMID:16538176|PMID:21428769|PMID:23588310 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1349444 D RGD:7240710 20230505 OMIM 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:0080600 COVID-19 ISO RGD:1349444 D RGD:9068941 20230330 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:11372 megacolon ISO RGD:1349444 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:1245 vulva cancer susceptibility ISO RGD:1349444 D RGD:9068941 20230330 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2 PMID:12543794|REF_RGD_ID:2314696 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:12849 autistic disorder ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16720216 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:1588 thrombocytopenia ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:3459889 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:3070 high grade glioma ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:14511464 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:399 tuberculosis susceptibility ISO RGD:1349444 D RGD:9068941 20230330 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 PMID:19030725|REF_RGD_ID:36049809 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:635 acquired immunodeficiency syndrome susceptibility ISO RGD:1349444 D RGD:9068941 20230330 RGD DNA:polymorphism: :HLA-A31 PMID:19030725|REF_RGD_ID:36049809 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:3459889 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:21570397|PMID:28043905 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:9088 parapsoriasis ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 1359403 RT1-CE16 RT1 class I, locus CE16 gene DOID:9538 multiple myeloma ISO RGD:1349444 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17283154 1359404 Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602857 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359407 Chtop chromatin target of PRMT1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359407 Chtop chromatin target of PRMT1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359407 Chtop chromatin target of PRMT1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359407 Chtop chromatin target of PRMT1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607051 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359407 Chtop chromatin target of PRMT1 gene DOID:5812 MHC class II deficiency ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359407 Chtop chromatin target of PRMT1 gene DOID:630 genetic disease ISO RGD:1607051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359407 Chtop chromatin target of PRMT1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607051 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359408 Amt aminomethyltransferase gene DOID:0060852 Pierson syndrome ISO RGD:1343884 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1359408 Amt aminomethyltransferase gene DOID:1826 epilepsy ISO RGD:1343884 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1359408 Amt aminomethyltransferase gene DOID:630 genetic disease ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12948742|PMID:23352163|PMID:25741868|PMID:26179960|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28492532|PMID:8005589|PMID:9580775 1359408 Amt aminomethyltransferase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343884 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1359408 Amt aminomethyltransferase gene DOID:9002802 Acidoses IDA D RGD:1599107|PMID:3877504 20070116 RGD 1359408 Amt aminomethyltransferase gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868|PMID:28492532 1359408 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:11073529|PMID:9621520 20170420 RGD DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human) 1359408 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16450403 1359408 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:12879455|PMID:9600239 20170420 RGD DNA:missense mutation:exon:p.H42R(human) 1359408 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:7240710 20130221 OMIM 1359408 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:15272469|PMID:16051266|PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:20301531|PMID:20949620|PMID:21520333|PMID:22171071|PMID:22261077|PMID:22532538|PMID:23352163|PMID:24033266|PMID:25231368|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26371980|PMID:26467025|PMID:27164344|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28244183|PMID:28462797|PMID:28492532|PMID:29300369|PMID:30105116|PMID:31319225|PMID:33726816|PMID:4434100|PMID:6179960|PMID:8005589|PMID:9536098|PMID:9580775|PMID:9600239|PMID:9621520 1359408 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy susceptibility ISO RGD:1343884 D RGD:1599106|PMID:8005589 20070116 RGD 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605964 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:630 genetic disease ISO RGD:1605964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359409 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605964 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359410 Matn1 matrilin 1 gene DOID:630 genetic disease ISO RGD:1352772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359411 Krt31 keratin 31 gene DOID:630 genetic disease ISO RGD:1315199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359412 Ccdc172 coiled-coil domain containing 172 gene DOID:0050778 Meckel syndrome ISO RGD:1346141 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 1359412 Ccdc172 coiled-coil domain containing 172 gene DOID:630 genetic disease ISO RGD:1346141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:630 genetic disease ISO RGD:1601738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359413 Isg20l2 interferon stimulated exonuclease gene 20-like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601738 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1227 neutropenia ISO RGD:1345721 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Neutropenia 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:574 peripheral nervous system disease ISO RGD:1345721 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1345721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:870 neuropathy ISO RGD:1345721 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9002720 Splenomegaly ISO RGD:1345721 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Enlarged Spleen 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:7240710 20210505 OMIM 1359414 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder PMID:25741868|PMID:27174565|PMID:32808683 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351399 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:7240710 20140911 OMIM 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:22492991|PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:27781031|PMID:28492532|PMID:28777499|PMID:28778787|PMID:28887793|PMID:28940310|PMID:31130284|PMID:32238909|PMID:32681751|PMID:33734437|PMID:9536098 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:12849 autistic disorder ISO RGD:1351399 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:5419 schizophrenia ISO RGD:1351399 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:1351399 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 1359416 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1351399 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32681751 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:7240710 20151111 OMIM 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 PMID:17576681|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1347670 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:1826 epilepsy ISO RGD:1347670 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:25576308|PMID:25741868|PMID:28492532|PMID:29540477|PMID:30014597|PMID:31690696 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:5419 schizophrenia ISO RGD:1347670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:630 genetic disease ISO RGD:1347670 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22535186|PMID:25155093|PMID:25428574|PMID:25576308|PMID:25700176|PMID:25726362|PMID:25741868|PMID:26224640|PMID:27810918|PMID:28492532|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1347670 D RGD:7240710 20150617 OMIM 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1347670 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:17576681|PMID:21715705|PMID:22535186|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:26719383|PMID:27066538|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1347670 D RGD:7240710 20170329 OMIM 1359417 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1347670 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:17576681|PMID:21715705|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27066538|PMID:27810918|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:35700042|PMID:4104978|PMID:9536098 1359418 Bhmt2 betaine-homocysteine S-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359418 Bhmt2 betaine-homocysteine S-methyltransferase 2 gene DOID:674 cleft palate ISO RGD:1352435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 1359418 Bhmt2 betaine-homocysteine S-methyltransferase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352435 D RGD:152995286|PMID:30901224 20220614 RGD mRNA:altered expression:liver tumor (human) 1359418 Bhmt2 betaine-homocysteine S-methyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352435 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359418 Bhmt2 betaine-homocysteine S-methyltransferase 2 gene DOID:9296 cleft lip ISO RGD:1352435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343626 D RGD:11039052|PMID:23280334 20160301 RGD DNA:missense mutations:cds:multiple (human) 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISS RGD:1553658 D RGD:13592920 20180518 MouseDO OMIM:614286 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343626 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:305 carcinoma ISO RGD:1343626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343626 D RGD:150429662|PMID:23071587 20210914 RGD protein:increased expression:lung epithelium,nucleus 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343626 D RGD:150429662|PMID:23071587 20210914 RGD protein:increased expression:lung epithelium,nucleus 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343626 D RGD:150429662|PMID:23071587 20210914 RGD 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343626 D RGD:11039407|PMID:21082031 20160303 RGD mRNA:altered expression:kidney (human) 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1343626 D RGD:11039050|PMID:23518498 20160301 RGD mRNA, protein:increased expression:lung (human) 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1343626 D RGD:155630627|PMID:33779075 20221026 RGD DNA:mutations: : 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:630 genetic disease ISO RGD:1343626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:678 progressive supranuclear palsy ISO RGD:1343626 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1553658 D RGD:150429663|PMID:32372053 20210914 RGD 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343626 D RGD:150429692|PMID:29278882 20210916 RGD 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343626 D RGD:150429666|PMID:28082404 20210914 RGD 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1343626 D RGD:150429692|PMID:29278882 20210916 RGD associated with hepatocellular carcinoma 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1343626 D RGD:11039047|PMID:21764905 20160301 RGD mRNA:increased expression:head and neck (human) 1359422 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1343626 D RGD:11039017|PMID:22431577 20160229 RGD DNA:mutations:multiple (human) 1359423 Isyna1 inositol-3-phosphate synthase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1359423 Isyna1 inositol-3-phosphate synthase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1605077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1359423 Isyna1 inositol-3-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1605077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359423 Isyna1 inositol-3-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359423 Isyna1 inositol-3-phosphate synthase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1605077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1359423 Isyna1 inositol-3-phosphate synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1359424 Ndrg3 NDRG family member 3 gene DOID:2234 focal epilepsy ISO RGD:1315300 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1359424 Ndrg3 NDRG family member 3 gene DOID:630 genetic disease ISO RGD:1315300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359427 Eci2 enoyl-CoA delta isomerase 2 gene DOID:630 genetic disease ISO RGD:1607074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359429 Fggy FGGY carbohydrate kinase domain containing gene DOID:1059 intellectual disability ISO RGD:1605365 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1359429 Fggy FGGY carbohydrate kinase domain containing gene DOID:630 genetic disease ISO RGD:1605365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359429 Fggy FGGY carbohydrate kinase domain containing gene DOID:9004657 Weight Gain ISO RGD:1605365 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 1359429 Fggy FGGY carbohydrate kinase domain containing gene DOID:9970 obesity ISO RGD:1605365 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 1359430 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:11372 megacolon ISO RGD:1354342 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359430 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:14219 renal tubular acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 1359430 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:630 genetic disease ISO RGD:1354342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359430 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 1359431 Bcap29 B-cell receptor-associated protein 29 gene DOID:13938 amenorrhea ISO RGD:1347055 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1359431 Bcap29 B-cell receptor-associated protein 29 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347055 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359431 Bcap29 B-cell receptor-associated protein 29 gene DOID:630 genetic disease ISO RGD:1347055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359432 Rnase2 ribonuclease A family member 2 gene DOID:0080600 COVID-19 ISO RGD:1349318 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359432 Rnase2 ribonuclease A family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1359432 Rnase2 ribonuclease A family member 2 gene DOID:630 genetic disease ISO RGD:1349318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359432 Rnase2 ribonuclease A family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349318 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1359433 Morn1 MORN repeat containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359433 Morn1 MORN repeat containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602465 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359433 Morn1 MORN repeat containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359433 Morn1 MORN repeat containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602465 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1359433 Morn1 MORN repeat containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359433 Morn1 MORN repeat containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359433 Morn1 MORN repeat containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359433 Morn1 MORN repeat containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1359433 Morn1 MORN repeat containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359433 Morn1 MORN repeat containing 1 gene DOID:630 genetic disease ISO RGD:1602465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359433 Morn1 MORN repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602465 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359433 Morn1 MORN repeat containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359433 Morn1 MORN repeat containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359435 Zfp157 zinc finger protein 157 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344228 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359435 Zfp157 zinc finger protein 157 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1359435 Zfp157 zinc finger protein 157 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1359435 Zfp157 zinc finger protein 157 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1359435 Zfp157 zinc finger protein 157 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 1359435 Zfp157 zinc finger protein 157 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1359435 Zfp157 zinc finger protein 157 gene DOID:12849 autistic disorder ISO RGD:1344228 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359435 Zfp157 zinc finger protein 157 gene DOID:630 genetic disease ISO RGD:1344228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359436 Pigs phosphatidylinositol glycan anchor biosynthesis, class S gene DOID:630 genetic disease ISO RGD:1354267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1359436 Pigs phosphatidylinositol glycan anchor biosynthesis, class S gene DOID:9004284 Developmental and Epileptic Encephalopathy 95 ISO RGD:1354267 D RGD:7240710 20190315 OMIM 1359436 Pigs phosphatidylinositol glycan anchor biosynthesis, class S gene DOID:9004284 Developmental and Epileptic Encephalopathy 95 ISO RGD:1354267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 PMID:25741868|PMID:30269814|PMID:33410539 1359437 Tmed5 transmembrane p24 trafficking protein 5 gene DOID:630 genetic disease ISO RGD:1349482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359438 Trim10 tripartite motif-containing 10 gene DOID:11372 megacolon ISO RGD:1349784 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359438 Trim10 tripartite motif-containing 10 gene DOID:2772 irritant dermatitis ISO RGD:1349784 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 1359438 Trim10 tripartite motif-containing 10 gene DOID:630 genetic disease ISO RGD:1349784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359439 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342670 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359439 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1359439 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:12849 autistic disorder ISO RGD:1342670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359439 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342670 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 1359439 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:630 genetic disease ISO RGD:1342670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359440 Nufip1 nuclear FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359442 Lrwd1 leucine-rich repeats and WD repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603534 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359442 Lrwd1 leucine-rich repeats and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1603534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359443 Ubald1 UBA-like domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1359443 Ubald1 UBA-like domain containing 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604544 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1359443 Ubald1 UBA-like domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1359443 Ubald1 UBA-like domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604544 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359443 Ubald1 UBA-like domain containing 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1359443 Ubald1 UBA-like domain containing 1 gene DOID:630 genetic disease ISO RGD:1604544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359444 Tspan3 tetraspanin 3 gene DOID:2717 Bloom syndrome ISO RGD:1602131 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359444 Tspan3 tetraspanin 3 gene DOID:5419 schizophrenia ISO RGD:1602131 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359444 Tspan3 tetraspanin 3 gene DOID:630 genetic disease ISO RGD:1602131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359444 Tspan3 tetraspanin 3 gene DOID:9256 colorectal cancer ISO RGD:1602131 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359445 Klhdc8b kelch domain containing 8B gene DOID:0060852 Pierson syndrome ISO RGD:1602285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1359445 Klhdc8b kelch domain containing 8B gene DOID:630 genetic disease ISO RGD:1602285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359445 Klhdc8b kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma ISO RGD:1602285 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1359445 Klhdc8b kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma ISO RGD:1602285 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:19706467 1359445 Klhdc8b kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma susceptibility ISO RGD:1602285 D RGD:7240710 20190502 OMIM 1359445 Klhdc8b kelch domain containing 8B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602285 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1359446 Tent5c terminal nucleotidyltransferase 5C gene DOID:630 genetic disease ISO RGD:1352086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359447 Nol10 nucleolar protein 10 gene DOID:11372 megacolon ISO RGD:1602460 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359447 Nol10 nucleolar protein 10 gene DOID:630 genetic disease ISO RGD:1602460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1346181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346181 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy IEP D RGD:12910554|PMID:25467976 20170620 RGD mRNA,protein:decreased expression:dorsal root ganglion: 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:1826 epilepsy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:540 strabismus ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1346181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:32042906|PMID:9536098 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9000660 Choristoma ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1346181 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550740 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:7240710 20170510 OMIM 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:16199547|PMID:17576681|PMID:24656866|PMID:25432320|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:28492532|PMID:29875423|PMID:30755392|PMID:31618474|PMID:32042906|PMID:9536098 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Insomnia PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 1359448 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1359450 Tmem39b transmembrane protein 39b gene DOID:630 genetic disease ISO RGD:1351966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359451 Cenpq centromere protein Q gene DOID:630 genetic disease ISO RGD:1344338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359452 Fam227b family with sequence similarity 227, member B gene DOID:2717 Bloom syndrome ISO RGD:1605268 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359452 Fam227b family with sequence similarity 227, member B gene DOID:630 genetic disease ISO RGD:1605268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359452 Fam227b family with sequence similarity 227, member B gene DOID:9256 colorectal cancer ISO RGD:1605268 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359453 Cct6b chaperonin containing TCP1 subunit 6B gene DOID:630 genetic disease ISO RGD:1345746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359453 Cct6b chaperonin containing TCP1 subunit 6B gene DOID:8584 Burkitt lymphoma ISO RGD:1345746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 1359453 Cct6b chaperonin containing TCP1 subunit 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345746 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050771 pheochromocytoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22517554|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:1599507|PMID:11062460 20070206 RGD 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:7240710 20130425 OMIM 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12658451|PMID:12807974|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19454582|PMID:21173220|PMID:23083876|PMID:23282968|PMID:23342407|PMID:24033266|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27700540|PMID:28492532|PMID:28819017|PMID:30548481|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1354327 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:26378787 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1354327 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:1612 breast cancer ISO RGD:1354327 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:2394 ovarian cancer ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:3247 rhabdomyosarcoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:23083876|PMID:24423348|PMID:24758179|PMID:25741868|PMID:27700540|PMID:28492532|PMID:33372952 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:3652 Leigh disease ISS RGD:1553681 D RGD:13592920 20200312 MouseDO OMIM:256000 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354327 D RGD:150340558|PMID:25576295 20210815 RGD DNA:SNP: 3'utr (rs12064957) (human) 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:7240710 20131030 OMIM 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:31308404|PMID:33372952|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33748650|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11062460|PMID:12658451|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007167 Carney Triad ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:12658451|PMID:17576681|PMID:17667967|PMID:17804857|PMID:19351833|PMID:21173220|PMID:21822798|PMID:24402737|PMID:26173966|PMID:28492532|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:7240710 20130221 OMIM 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 1359454 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:7240710 20190315 OMIM 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 PMID:25741868|PMID:26545878|PMID:28492532|PMID:31912665 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604822 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:1059 intellectual disability ISO RGD:1604822 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:1909 melanoma ISO RGD:1604822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:630 genetic disease ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25760597|PMID:28492532 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:9000217 Stomach Neoplasms ISO RGD:1604822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359455 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:9000918 Disease Progression ISO RGD:1604822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359456 Tmx2 thioredoxin-related transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1603042 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359456 Tmx2 thioredoxin-related transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1603042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359456 Tmx2 thioredoxin-related transmembrane protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1603042 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:31586943|PMID:31735293 1359456 Tmx2 thioredoxin-related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:7240710 20200226 OMIM 1359456 Tmx2 thioredoxin-related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity PMID:25741868|PMID:31586943|PMID:31735293 1359458 Chpf chondroitin polymerizing factor gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1359458 Chpf chondroitin polymerizing factor gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1359458 Chpf chondroitin polymerizing factor gene DOID:1148 polydactyly ISO RGD:1603198 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1359458 Chpf chondroitin polymerizing factor gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1359458 Chpf chondroitin polymerizing factor gene DOID:630 genetic disease ISO RGD:1603198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359458 Chpf chondroitin polymerizing factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603198 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359459 Galm galactose mutarotase gene DOID:0080690 RASopathy ISO RGD:1350990 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1359459 Galm galactose mutarotase gene DOID:11211 buphthalmos ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 1359459 Galm galactose mutarotase gene DOID:3883 Lynch syndrome ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1359459 Galm galactose mutarotase gene DOID:630 genetic disease ISO RGD:1350990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359459 Galm galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:7240710 20200520 OMIM 1359459 Galm galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSE MUTAROTASE DEFICIENCY | ClinVar Annotator: match by term: GALACTOSEMIA IV PMID:25741868|PMID:28492532|PMID:30451973|PMID:30910422 1359460 Noa1 nitric oxide associated 1 gene DOID:630 genetic disease ISO RGD:1354431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359461 Dagla diacylglycerol lipase, alpha gene DOID:0050773 paraganglioma ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 1359461 Dagla diacylglycerol lipase, alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1359461 Dagla diacylglycerol lipase, alpha gene DOID:1059 intellectual disability ISO RGD:1343376 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359461 Dagla diacylglycerol lipase, alpha gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1343376 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 1359461 Dagla diacylglycerol lipase, alpha gene DOID:1324 lung cancer ISO RGD:1343376 D RGD:151356746|PMID:25592173 20220215 RGD DNA:SNP:rs60507107 (human) 1359461 Dagla diacylglycerol lipase, alpha gene DOID:630 genetic disease ISO RGD:1343376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359461 Dagla diacylglycerol lipase, alpha gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 1359463 Mfap3 microfibril associated protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359463 Mfap3 microfibril associated protein 3 gene DOID:630 genetic disease ISO RGD:1350797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359463 Mfap3 microfibril associated protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1349039 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:13938 amenorrhea ISO RGD:1349039 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:1349039 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 1359464 Lrg1 leucine-rich alpha-2-glycoprotein 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1349039 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:19610081|PMID:24183451|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24183449|PMID:24183451|PMID:28492532 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1342520 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:29068549 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:7240710 20140911 OMIM 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:17576681|PMID:19610081|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942|PMID:33578420|PMID:9536098 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 1359465 Dync2i2 dynein 2 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1342520 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359466 Cxxc5 CXXC finger protein 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345048 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1359466 Cxxc5 CXXC finger protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359466 Cxxc5 CXXC finger protein 5 gene DOID:630 genetic disease ISO RGD:1345048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359466 Cxxc5 CXXC finger protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345048 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359466 Cxxc5 CXXC finger protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359467 Rcor2 REST corepressor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1359467 Rcor2 REST corepressor 2 gene DOID:1059 intellectual disability ISO RGD:1353932 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359467 Rcor2 REST corepressor 2 gene DOID:3070 high grade glioma ISO RGD:1353932 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1359467 Rcor2 REST corepressor 2 gene DOID:630 genetic disease ISO RGD:1353932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359468 Fdcsp follicular dendritic cell secreted protein gene DOID:630 genetic disease ISO RGD:1353265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359468 Fdcsp follicular dendritic cell secreted protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1353265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1349487 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0080600 COVID-19 ISO RGD:1349487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1349487 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1349487 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349487 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349487 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1349487 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359469 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359470 Poteg POTE ankyrin domain family, member G gene DOID:630 genetic disease ISO RGD:1605777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359471 Morf4l2 mortality factor 4 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347861 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359471 Morf4l2 mortality factor 4 like 2 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1347861 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 1359471 Morf4l2 mortality factor 4 like 2 gene DOID:12849 autistic disorder ISO RGD:1347861 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359471 Morf4l2 mortality factor 4 like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 1359471 Morf4l2 mortality factor 4 like 2 gene DOID:630 genetic disease ISO RGD:1347861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359471 Morf4l2 mortality factor 4 like 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347861 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay 1359472 Rdx radixin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1348654 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 1359472 Rdx radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:7240710 20141216 OMIM 1359472 Rdx radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 24 PMID:17226784|PMID:19215054|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27231709|PMID:28492532|PMID:29986705|PMID:30311386|PMID:32747562 1359472 Rdx radixin gene DOID:1059 intellectual disability ISO RGD:1348654 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359472 Rdx radixin gene DOID:12308 Dubin-Johnson syndrome ISS RGD:1553217 D RGD:13592920 20180518 MouseDO OMIM:237500 1359472 Rdx radixin gene DOID:12704 ataxia telangiectasia ISO RGD:1348654 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1359472 Rdx radixin gene DOID:13580 cholestasis ISO RGD:1348654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17681005 1359472 Rdx radixin gene DOID:630 genetic disease ISO RGD:1348654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1359472 Rdx radixin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348654 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1359472 Rdx radixin gene DOID:9004538 Hearing Loss ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:30311386 1359473 Thap4 THAP domain containing 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1359473 Thap4 THAP domain containing 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1359473 Thap4 THAP domain containing 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1359473 Thap4 THAP domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1342863 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359473 Thap4 THAP domain containing 4 gene DOID:630 genetic disease ISO RGD:1342863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359473 Thap4 THAP domain containing 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1359474 Map3k7cl MAP3K7 C-terminal like gene DOID:630 genetic disease ISO RGD:1347445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359475 Pole3 DNA polymerase epsilon 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1344068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1347583 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:7240710 20141015 OMIM 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B PMID:10053003|PMID:10053004|PMID:11746050|PMID:12732628|PMID:12754701|PMID:1427786|PMID:16021469|PMID:16737835|PMID:17576681|PMID:21031595|PMID:23436702|PMID:24033266|PMID:25741868|PMID:27146152|PMID:27289259|PMID:28492532|PMID:30810871|PMID:33502714|PMID:9459218|PMID:9536098 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:11746050|PMID:21031595|PMID:28492532 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:10053004|PMID:28492532 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:630 genetic disease ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:655 inherited metabolic disorder ISO RGD:1347583 D RGD:1556492|PMID:10053004 20070511 RGD molybdenum cofactor deficiency, complementation group B,OMIM: 252150 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:655 inherited metabolic disorder ISS RGD:1553221 D RGD:13592920 20180518 MouseDO 1359477 Mocs2 molybdenum cofactor synthesis 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347583 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359478 Arrdc3 arrestin domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359478 Arrdc3 arrestin domain containing 3 gene DOID:630 genetic disease ISO RGD:1348140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359478 Arrdc3 arrestin domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348140 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359478 Arrdc3 arrestin domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359478 Arrdc3 arrestin domain containing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 1359481 Tceanc2 transcription elongation factor A N-terminal and central domain containing 2 gene DOID:630 genetic disease ISO RGD:1606976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359482 Tinag tubulointerstitial nephritis antigen gene DOID:630 genetic disease ISO RGD:1346434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359482 Tinag tubulointerstitial nephritis antigen gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 1359485 Ctnna1 catenin alpha 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1359485 Ctnna1 catenin alpha 1 gene DOID:0060863 patterned macular dystrophy ISO RGD:1348842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26691986 1359485 Ctnna1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:7240710 20190315 OMIM 1359485 Ctnna1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 2 PMID:25741868|PMID:26691986|PMID:28041643|PMID:28492532|PMID:32051609|PMID:33137351|PMID:33435129|PMID:5442145 1359485 Ctnna1 catenin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348842 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1359485 Ctnna1 catenin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359485 Ctnna1 catenin alpha 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1348842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532|PMID:30515673|PMID:32051609 1359485 Ctnna1 catenin alpha 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1359485 Ctnna1 catenin alpha 1 gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:28492532|PMID:32051609 1359485 Ctnna1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:2289791|PMID:17639504 20080211 RGD 1359485 Ctnna1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:2289793|PMID:16334164 20080211 RGD protein:decreased expression:prostate gland 1359485 Ctnna1 catenin alpha 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348842 D RGD:2289491|PMID:17760743 20080211 RGD 1359485 Ctnna1 catenin alpha 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1348842 D RGD:2298486|PMID:16426728 20080701 RGD 1359485 Ctnna1 catenin alpha 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:1348842 D RGD:2289795|PMID:12047765 20080211 RGD protein:decreased expression:breast 1359485 Ctnna1 catenin alpha 1 gene DOID:3905 lung carcinoma IEP D RGD:2289804|PMID:15195114 20080211 RGD 1359485 Ctnna1 catenin alpha 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1348842 D RGD:2289799|PMID:9355975 20080211 RGD protein:decreased expression:kidney 1359485 Ctnna1 catenin alpha 1 gene DOID:5041 esophageal cancer disease_progression IEP D RGD:2289811|PMID:9863006 20080212 RGD 1359485 Ctnna1 catenin alpha 1 gene DOID:5419 schizophrenia ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1359485 Ctnna1 catenin alpha 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348842 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1359485 Ctnna1 catenin alpha 1 gene DOID:630 genetic disease ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359485 Ctnna1 catenin alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28041643|PMID:28492532|PMID:30515673|PMID:32051609|PMID:33137351 1359485 Ctnna1 catenin alpha 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1348842 D RGD:2289797|PMID:11161853 20080211 RGD protein:decreased expression:uterine cervix 1359485 Ctnna1 catenin alpha 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348842 D RGD:2289795|PMID:12047765 20080211 RGD associated with Breast Neoplasms 1359485 Ctnna1 catenin alpha 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348842 D RGD:2289798|PMID:9522220 20080211 RGD protein:decreased expression:ovary 1359485 Ctnna1 catenin alpha 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348842 D RGD:2289797|PMID:11161853 20080211 RGD protein:decreased expression:uterine cervix 1359485 Ctnna1 catenin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348842 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359485 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:18487285|PMID:19279422|PMID:21643010|PMID:23208944|PMID:25741868|PMID:26182300|PMID:26691986|PMID:26845104|PMID:28166811|PMID:28455161|PMID:28492532|PMID:29330337|PMID:9536098 1359485 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 1359485 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 1359485 Ctnna1 catenin alpha 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1348842 D RGD:2298485|PMID:16803534 20080701 RGD 1359485 Ctnna1 catenin alpha 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 1359485 Ctnna1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:2289792|PMID:17223851 20080211 RGD protein:decreased expression:breast 1359485 Ctnna1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:2289796|PMID:11431364 20080211 RGD protein:increased expression:breast 1359485 Ctnna1 catenin alpha 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1348842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1359485 Ctnna1 catenin alpha 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348842 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1359485 Ctnna1 catenin alpha 1 gene DOID:9256 colorectal cancer ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 1359486 Mospd1 motile sperm domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347086 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359486 Mospd1 motile sperm domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347086 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359486 Mospd1 motile sperm domain containing 1 gene DOID:630 genetic disease ISO RGD:1347086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359488 Ecsit ECSIT signaling integrator gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1359488 Ecsit ECSIT signaling integrator gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1359488 Ecsit ECSIT signaling integrator gene DOID:0111254 glutaric acidemia I ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1359488 Ecsit ECSIT signaling integrator gene DOID:3413 alpha-mannosidosis ISO RGD:1602709 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1359488 Ecsit ECSIT signaling integrator gene DOID:630 genetic disease ISO RGD:1602709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359489 Nub1 negative regulator of ubiquitin-like proteins 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1359489 Nub1 negative regulator of ubiquitin-like proteins 1 gene DOID:2843 long QT syndrome ISO RGD:1602112 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1359489 Nub1 negative regulator of ubiquitin-like proteins 1 gene DOID:630 genetic disease ISO RGD:1602112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359490 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1359490 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:7240710 20200429 OMIM 1359490 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:29440775|PMID:30283131|PMID:9536098 1359490 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:630 genetic disease ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359490 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1343877 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:26741492|PMID:30283131 1359490 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343877 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:0050553 JMP syndrome ISO RGD:1350605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:11372 megacolon ISO RGD:1350605 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:1350605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26507003 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1350605 D RGD:2292435|PMID:17205510 20080418 RGD mRNA, protein:increased expression:urinary bladder 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:2292431|PMID:18045648 20080417 RGD 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:2292433|PMID:17549357 20080417 RGD DNA:hypomethylation:promoter 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:3590 gestational trophoblastic neoplasm ISO RGD:1350605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18440631 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:2292429|PMID:18162782 20080417 RGD protein:increased expression:chest 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:2292432|PMID:17785371 20080417 RGD mRNA, protein:increased expression:testis 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:2292433|PMID:17549357 20080417 RGD DNA:hypomethylation:promoter 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:4441 dysgerminoma ISO RGD:1350605 D RGD:2292443|PMID:15371950 20080418 RGD 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:630 genetic disease ISO RGD:1350605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:670 amphetamine abuse ISO RGD:1350605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:8719 in situ carcinoma ISO RGD:1350605 D RGD:2292428|PMID:17996359 20080417 RGD associated with Testicular Neoplasms;protein:increased expression:semen 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350605 D RGD:2292442|PMID:15386301 20080418 RGD associated with Seminoma; associated with Carcinoma, Embryonal 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1350605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 1359491 Pou5f1 POU class 5 homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:17413979|REF_RGD_ID:2292434 1359492 Tmem171 transmembrane protein 171 gene DOID:630 genetic disease ISO RGD:1606157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359492 Tmem171 transmembrane protein 171 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606157 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:0060177 homocarnosinosis ISO RGD:1344598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4172777 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1344598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4673339|PMID:4718759 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:2921 glomerulonephritis ISO RGD:1344598 D RGD:7207223|PMID:20851293 20130124 RGD 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344598 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:8445 intestinal volvulus ISO RGD:1344598 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17942768|PMID:21393041|PMID:21573905 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:7207213|PMID:21393041 20130124 RGD 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:1344598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4673339 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344598 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344598 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1359493 Cndp1 carnosine dipeptidase 1 gene DOID:9650 pathologic nystagmus ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1349728 D RGD:42722010|PMID:22943132 20210302 RGD DNA:missense mutation:CDS:p.D203A (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:7240710 20140911 OMIM 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:16199547|PMID:16685658|PMID:17576681|PMID:17937443|PMID:19664000|PMID:2038931|PMID:20389311|PMID:21563328|PMID:22440127|PMID:22943132|PMID:23532871|PMID:24033266|PMID:25741868|PMID:25907466|PMID:26017485|PMID:27339457|PMID:28454995|PMID:28492532|PMID:28673110|PMID:29620724|PMID:30140196|PMID:31127727|PMID:31589614|PMID:34901216|PMID:8985490|PMID:9536098 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1349728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:16685658|PMID:17937443|PMID:19664000|PMID:20389311|PMID:21563328|PMID:22943132|PMID:23532871|PMID:24033266|PMID:25741868|PMID:25907466|PMID:27339457|PMID:28492532|PMID:31589614|PMID:34901216|PMID:8985490 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0080685 aortic dissection ISO RGD:1349728 D RGD:42722606|PMID:23518852 20210303 RGD mRNA, protein:decreased expression:aorta wall (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1059 intellectual disability ISO RGD:1349728 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer ameliorates ISO RGD:1349728 D RGD:42722012|PMID:28177909 20210302 RGD human EFEMP2 knockdown cell line in a mouse model 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer exacerbates ISO RGD:1349728 D RGD:42722012|PMID:28177909 20210302 RGD protein:decreased expression:endometrium (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2394 ovarian cancer exacerbates ISO RGD:1349728 D RGD:42722014|PMID:25885889 20210302 RGD mRNA, protein:increased expression:ovary (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2893 cervix carcinoma exacerbates ISO RGD:1349728 D RGD:42722607|PMID:24737201 20210303 RGD mRNA, protein:increased expression:cervix epithelium (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3144 cutis laxa ISS RGD:1551771 D RGD:13592920 20180518 MouseDO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3347 osteosarcoma exacerbates ISO RGD:1349728 D RGD:42722011|PMID:28339091 20210302 RGD human EFEMP2 knockdown cell line in a mouse model 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma disease_progression ISO RGD:1349728 D RGD:42722013|PMID:27157136 20210302 RGD protein:increased expression:bone tissue (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma exacerbates ISO RGD:1349728 D RGD:42722011|PMID:28339091 20210302 RGD mRNA, protein:increased expression:bone tissue (human ) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1349728 D RGD:42722009|PMID:22440127 20210302 RGD DNA:missense mutation:CDS:p.E161K (human) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISS RGD:1551771 D RGD:13592920 20180518 MouseDO 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1349728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:8398 osteoarthritis IEP D RGD:42722015|PMID:31396630 20210302 RGD mRNA:increased expression:articular cartilage of joint (rat) 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1349728 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1359496 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1359497 B3gntl1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 gene DOID:630 genetic disease ISO RGD:1603899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359498 Tacstd2 tumor-associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:7240710 20130221 OMIM 1359498 Tacstd2 tumor-associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type III PMID:10192395|PMID:12107443|PMID:15652848|PMID:17167402|PMID:25741868|PMID:28492532 1359498 Tacstd2 tumor-associated calcium signal transducer 2 gene DOID:2566 corneal dystrophy ISO RGD:1342963 D RGD:1599194|PMID:10192395 20070119 RGD gelatinous drop-like corneal dystrophy 1359498 Tacstd2 tumor-associated calcium signal transducer 2 gene DOID:2566 corneal dystrophy ISO RGD:1342963 D RGD:8554872 20170124 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive 1359498 Tacstd2 tumor-associated calcium signal transducer 2 gene DOID:289 endometriosis ISO RGD:1342963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1359498 Tacstd2 tumor-associated calcium signal transducer 2 gene DOID:630 genetic disease ISO RGD:1342963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359500 Spata1 spermatogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1353083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359501 Rnase9 ribonuclease A family member 9 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1359501 Rnase9 ribonuclease A family member 9 gene DOID:630 genetic disease ISO RGD:1343484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359502 Ccdc91 coiled-coil domain containing 91 gene DOID:12849 autistic disorder ISO RGD:1605359 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359502 Ccdc91 coiled-coil domain containing 91 gene DOID:303 substance-related disorder ISO RGD:1605359 D RGD:11554173 20161206 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1359502 Ccdc91 coiled-coil domain containing 91 gene DOID:630 genetic disease ISO RGD:1605359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359504 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1603016 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:28492532 1359504 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0111996 immunodeficiency 51 ISO RGD:1603016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1359504 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1603016 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1359504 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:630 genetic disease ISO RGD:1603016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359504 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603016 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359504 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1603016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1351045 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1351045 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1351045 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1351045 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1351045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359505 Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351045 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359508 C2h4orf33 similar to human chromosome 4 open reading frame 33 gene DOID:630 genetic disease ISO RGD:1601935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359509 Coq10b coenzyme Q10B gene DOID:630 genetic disease ISO RGD:1604595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359509 Coq10b coenzyme Q10B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604595 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1349068 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1349068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0080745 polymyositis ISO RGD:1349068 D RGD:2324870|PMID:15856462 20100513 RGD 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0111944 immunodeficiency 31B ISO RGD:1349068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:10223 dermatomyositis ISO RGD:1349068 D RGD:2324870|PMID:15856462 20100513 RGD 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1349068 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349068 D RGD:2324870|PMID:15856462 20100513 RGD protein:increased expression:pancreatic duct 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1349068 D RGD:1599137|PMID:8072530 20070117 RGD 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1349068 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349068 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:630 genetic disease ISO RGD:1349068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349068 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1349068 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349068 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349068 D RGD:2306714|PMID:11900875 20090504 RGD 1359511 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9256 colorectal cancer ISO RGD:1349068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1359513 Thg1l tRNA-histidine guanylyltransferase 1-like gene DOID:557 kidney disease ISO RGD:1603030 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 1359513 Thg1l tRNA-histidine guanylyltransferase 1-like gene DOID:630 genetic disease ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28097321 1359513 Thg1l tRNA-histidine guanylyltransferase 1-like gene DOID:9000784 Fibrosis ISO RGD:1603030 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 1359513 Thg1l tRNA-histidine guanylyltransferase 1-like gene DOID:9000809 Autosomal Recessive Spinocerebellar Ataxia 28 ISO RGD:1603030 D RGD:7240710 20200401 OMIM 1359513 Thg1l tRNA-histidine guanylyltransferase 1-like gene DOID:9000809 Autosomal Recessive Spinocerebellar Ataxia 28 ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 PMID:1168944|PMID:25741868|PMID:27307223|PMID:28097321 1359513 Thg1l tRNA-histidine guanylyltransferase 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603030 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359514 Scly selenocysteine lyase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1359514 Scly selenocysteine lyase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1359514 Scly selenocysteine lyase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1343598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1359514 Scly selenocysteine lyase gene DOID:1059 intellectual disability ISO RGD:1343598 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359514 Scly selenocysteine lyase gene DOID:630 genetic disease ISO RGD:1343598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359514 Scly selenocysteine lyase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1359515 Pi4k2b phosphatidylinositol 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:1602326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359516 Babam1 BRISC and BRCA1 A complex member 1 gene DOID:630 genetic disease ISO RGD:1602893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359516 Babam1 BRISC and BRCA1 A complex member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852633 1359517 Adal adenosine deaminase-like gene DOID:2717 Bloom syndrome ISO RGD:1605272 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359517 Adal adenosine deaminase-like gene DOID:630 genetic disease ISO RGD:1605272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359517 Adal adenosine deaminase-like gene DOID:9256 colorectal cancer ISO RGD:1605272 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532|PMID:29503925 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:7240710 20130221 OMIM 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31130284|PMID:31741823 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:7240710 20181017 OMIM 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:23374165|PMID:25326637|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:1059 intellectual disability ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21990111|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29961513|PMID:31741823 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:22302580 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31130284|PMID:31741823|PMID:33358637|PMID:9536098 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26443629|PMID:28492532 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:3529 central core disease ISO RGD:1346223 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:21990111|PMID:25741868|PMID:26467025|PMID:28492532 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:630 genetic disease ISO RGD:1346223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508524|PMID:10861296|PMID:15024724|PMID:16570191|PMID:19431184|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31130284|PMID:31741823 1359518 Cln8 CLN8, transmembrane ER and ERGIC protein gene DOID:9006205 Animal Disease Models ISO RGD:1346223 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:22302580 1359520 Ddx59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:7240710 20141015 OMIM 1359520 Ddx59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome V PMID:16278897|PMID:23972372|PMID:25741868|PMID:28492532|PMID:28711741|PMID:29127725|PMID:34008892 1359520 Ddx59 DEAD-box helicase 59 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1359520 Ddx59 DEAD-box helicase 59 gene DOID:1540 parathyroid carcinoma ISO RGD:1606490 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359520 Ddx59 DEAD-box helicase 59 gene DOID:630 genetic disease ISO RGD:1606490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359520 Ddx59 DEAD-box helicase 59 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1359520 Ddx59 DEAD-box helicase 59 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606490 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350944 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:630 genetic disease ISO RGD:1350944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:7240710 20190315 OMIM 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:26539891|PMID:28211990|PMID:28334956|PMID:28492532|PMID:29797509|PMID:29940663|PMID:30556349|PMID:33105479 1359521 Prune1 prune exopolyphosphatase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350944 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359522 Nudt9 nudix hydrolase 9 gene DOID:630 genetic disease ISO RGD:1352650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359522 Nudt9 nudix hydrolase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352650 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343973 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343973 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343973 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:630 genetic disease ISO RGD:1343973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343973 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343973 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359523 Ube2j2 ubiquitin-conjugating enzyme E2, J2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606014 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1606014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1606014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606014 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1359525 Thyn1 thymocyte nuclear protein 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 1359527 Tars1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:7240710 20190911 OMIM 1359527 Tars1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive PMID:25741868|PMID:28492532|PMID:31374204 1359527 Tars1 threonyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1347839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359527 Tars1 threonyl-tRNA synthetase 1 gene DOID:633 myositis ISO RGD:1347839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23425968 1359527 Tars1 threonyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347839 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352867 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352867 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:0111621 Temtamy syndrome ISO RGD:1352867 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:1205 allergic disease ISO RGD:1352867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:630 genetic disease ISO RGD:1352867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1550790 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359528 Clec4a3 C-type lectin domain family 4, member A3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352867 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359529 Rsrp1 arginine and serine rich protein 1 gene DOID:0050641 Rh deficiency syndrome ISO RGD:1603978 D RGD:8554872 20180821 ClinVar ClinVar Annotator: match by term: RhD negative 1359529 Rsrp1 arginine and serine rich protein 1 gene DOID:4175 Rh isoimmunization ISO RGD:1603978 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 1359529 Rsrp1 arginine and serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1603978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359529 Rsrp1 arginine and serine rich protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346006 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:7240710 20140911 OMIM 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type PMID:16909393|PMID:20412111|PMID:25741868 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:12849 autistic disorder ISO RGD:1346006 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359534 Ube2a ubiquitin-conjugating enzyme E2A gene DOID:630 genetic disease ISO RGD:1346006 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:0112213 developmental and epileptic encephalopathy 77 ISO RGD:1347377 D RGD:7240710 20190911 OMIM 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:0112213 developmental and epileptic encephalopathy 77 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:1826 epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:9536098 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347377 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:630 genetic disease ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908 1359535 Pigq phosphatidylinositol glycan anchor biosynthesis, class Q gene DOID:9008086 Developmental Disabilities ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24463883|PMID:25558065|PMID:28492532 1359536 Pef1 penta-EF hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1605152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0050572 cone-rod dystrophy ISO RGD:1345435 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:7240710 20160907 OMIM 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:24827497|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:7553855|PMID:7887420|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1345435 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 PMID:25741868|PMID:28492532 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:10584 retinitis pigmentosa ISO RGD:1345435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:7553855|PMID:9311735|PMID:9536098 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1059 intellectual disability ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33507216 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:15818814|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27533158|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32631363|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:7553855|PMID:9311735|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1826 epilepsy ISO RGD:1345435 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:32037395 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:5419 schizophrenia ISO RGD:1345435 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:630 genetic disease ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332042|PMID:16199547|PMID:16291725|PMID:17576681|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:23142271|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28492532|PMID:28542676|PMID:31568712|PMID:32037395|PMID:9311735|PMID:9450775|PMID:9536098 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:8501 fundus dystrophy ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10332042|PMID:16291725|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22545070|PMID:24154662|PMID:25741868|PMID:26766544|PMID:27486012|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:32581362|PMID:32685355|PMID:33507216|PMID:9311735|PMID:9450775 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:17576681|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:9536098 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359537 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000918 Disease Progression ISO RGD:1345435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359538 Tmem109 transmembrane protein 109 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1359538 Tmem109 transmembrane protein 109 gene DOID:1059 intellectual disability ISO RGD:1601968 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359538 Tmem109 transmembrane protein 109 gene DOID:630 genetic disease ISO RGD:1601968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359539 Ighg1 immunoglobulin heavy constant gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1344505 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359539 Ighg1 immunoglobulin heavy constant gamma 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1344505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1359539 Ighg1 immunoglobulin heavy constant gamma 1 gene DOID:633 myositis ISO RGD:1344505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18821675 1359540 Sar1a secretion associated, Ras related GTPase 1A gene DOID:630 genetic disease ISO RGD:1350460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359542 Ubac1 UBA domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 1359542 Ubac1 UBA domain containing 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1359542 Ubac1 UBA domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1359542 Ubac1 UBA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359542 Ubac1 UBA domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0060017 CD3epsilon deficiency ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0080690 RASopathy ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0081330 glycogen storage disease Ib ISO RGD:2293598 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0110651 long QT syndrome 10 ISO RGD:2293598 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111971 immunodeficiency 18 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111972 immunodeficiency 19 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111973 immunodeficiency 17 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:630 genetic disease ISO RGD:2293598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:684 hepatocellular carcinoma ISO RGD:2293598 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2293598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293598 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1359544 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9007661 Dwarfism ISO RGD:2293598 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1359545 Prss23 serine protease 23 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1346659 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 1359545 Prss23 serine protease 23 gene DOID:0060844 Norrie disease ISO RGD:1346659 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 1359545 Prss23 serine protease 23 gene DOID:0080600 COVID-19 ISO RGD:1346659 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359545 Prss23 serine protease 23 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1346659 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 1359545 Prss23 serine protease 23 gene DOID:1059 intellectual disability ISO RGD:1346659 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359545 Prss23 serine protease 23 gene DOID:13025 retinopathy of prematurity ISO RGD:1346659 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 1359545 Prss23 serine protease 23 gene DOID:1909 melanoma ISO RGD:1346659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1359545 Prss23 serine protease 23 gene DOID:630 genetic disease ISO RGD:1346659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359545 Prss23 serine protease 23 gene DOID:7765 Coats disease ISO RGD:1346659 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 1359545 Prss23 serine protease 23 gene DOID:8501 fundus dystrophy ISO RGD:1346659 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 1359546 Aldh3b1 aldehyde dehydrogenase 3 family, member B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349903 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359546 Aldh3b1 aldehyde dehydrogenase 3 family, member B1 gene DOID:1059 intellectual disability ISO RGD:1349903 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359546 Aldh3b1 aldehyde dehydrogenase 3 family, member B1 gene DOID:630 genetic disease ISO RGD:1349903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359546 Aldh3b1 aldehyde dehydrogenase 3 family, member B1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1359546 Aldh3b1 aldehyde dehydrogenase 3 family, member B1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:7240710 20140911 OMIM 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 8 PMID:23867502|PMID:25741868|PMID:25741905|PMID:28492532 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1354371 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:25741868 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension IEP D RGD:9684972|PMID:19689474 20141211 RGD mRNA:decreased expression:urinary bladder 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension IEP D RGD:9684979|PMID:25164814 20141212 RGD protein:decreased expression:cortical collecting duct 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:1184 nephrotic syndrome ISS RGD:1552296 D RGD:13592920 20180518 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:630 genetic disease ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:784 chronic kidney disease ISO RGD:1354371 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:9000058 Keloid ISO RGD:1354371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 1359547 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1354371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1348771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1348771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:2661 myoepithelioma ISO RGD:1348771 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1359548 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359549 Ociad1 OCIA domain containing 1 gene DOID:630 genetic disease ISO RGD:1351024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359549 Ociad1 OCIA domain containing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351024 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1359550 Sp100 SP100 nuclear antigen gene DOID:0060476 Perlman syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1359550 Sp100 SP100 nuclear antigen gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1359550 Sp100 SP100 nuclear antigen gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348100 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1359550 Sp100 SP100 nuclear antigen gene DOID:630 genetic disease ISO RGD:1348100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359551 Fblim1 filamin binding LIM protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606792 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359551 Fblim1 filamin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1606792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359553 Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1342842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359553 Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1342842 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1359553 Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 gene DOID:9452 fatty liver disease ISO RGD:1342842 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM PMID:29562163|PMID:34930143 1359554 Slc25a19 solute carrier family 25 member 19 gene DOID:10907 microcephaly ISO RGD:1343771 D RGD:1624242|PMID:12185364 20070507 RGD Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A 1359554 Slc25a19 solute carrier family 25 member 19 gene DOID:630 genetic disease ISO RGD:1343771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1359554 Slc25a19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:7240710 20150304 OMIM 1359554 Slc25a19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31295743|PMID:31506564|PMID:34587972|PMID:35102031 1359554 Slc25a19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:7240710 20150304 OMIM 1359554 Slc25a19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) PMID:12185364|PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532 1359555 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1344614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 1359555 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:630 genetic disease ISO RGD:1344614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359555 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344614 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359555 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1359556 Itch itchy E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1343086 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1359556 Itch itchy E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359556 Itch itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:7240710 20130221 OMIM 1359556 Itch itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Autoimmune disease, syndromic multisystem PMID:16199547|PMID:17576681|PMID:20170897|PMID:25741868|PMID:28492532|PMID:31091003|PMID:9536098 1359557 Esrrb estrogen-related receptor beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:23967202|PMID:24033266|PMID:30303587|PMID:33524517 1359557 Esrrb estrogen-related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:7240710 20130221 OMIM 1359557 Esrrb estrogen-related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 35 PMID:12529709|PMID:18179891|PMID:22951369|PMID:23767834|PMID:24033266|PMID:25342930|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29636544|PMID:30828346|PMID:31389194 1359557 Esrrb estrogen-related receptor beta gene DOID:1059 intellectual disability ISO RGD:1342767 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1359557 Esrrb estrogen-related receptor beta gene DOID:12930 dilated cardiomyopathy ISS RGD:1621573 D RGD:13592920 20180518 MouseDO 1359557 Esrrb estrogen-related receptor beta gene DOID:5426 primary ovarian insufficiency ISO RGD:1342767 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1359557 Esrrb estrogen-related receptor beta gene DOID:630 genetic disease ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 1359557 Esrrb estrogen-related receptor beta gene DOID:9004538 Hearing Loss ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:23967202|PMID:24033266|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33524517 1359559 Actrt1 actin-related protein T1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605289 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359559 Actrt1 actin-related protein T1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1605289 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 1359559 Actrt1 actin-related protein T1 gene DOID:12849 autistic disorder ISO RGD:1605289 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359559 Actrt1 actin-related protein T1 gene DOID:630 genetic disease ISO RGD:1605289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359562 Gpbp1l1 GC-rich promoter binding protein 1-like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1359562 Gpbp1l1 GC-rich promoter binding protein 1-like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605641 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1359562 Gpbp1l1 GC-rich promoter binding protein 1-like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1359562 Gpbp1l1 GC-rich promoter binding protein 1-like 1 gene DOID:13938 amenorrhea ISO RGD:1605641 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1359562 Gpbp1l1 GC-rich promoter binding protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1605641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359563 Dmrtc1c1 DMRT-like family C1c1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301775 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359563 Dmrtc1c1 DMRT-like family C1c1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:2301775 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 1359563 Dmrtc1c1 DMRT-like family C1c1 gene DOID:12849 autistic disorder ISO RGD:2301775 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359563 Dmrtc1c1 DMRT-like family C1c1 gene DOID:8445 intestinal volvulus ISO RGD:2301775 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1359563 Dmrtc1c1 DMRT-like family C1c1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:2301775 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:7240710 20141216 OMIM 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C PMID:18414213|PMID:18711368|PMID:20301773|PMID:25741868|PMID:28492532 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1348893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:25741868 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:1059 intellectual disability ISO RGD:1348893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:10907 microcephaly ISO RGD:1348893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:480 movement disease ISO RGD:1348893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:630 genetic disease ISO RGD:1348893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:9000123 Deglutition Disorders ISO RGD:1348893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1359564 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:9000343 Vision Disorders ISO RGD:1348893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1359565 Mettl6 methyltransferase 6, methylcytidine gene DOID:0060417 3p deletion syndrome ISO RGD:1605295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1359565 Mettl6 methyltransferase 6, methylcytidine gene DOID:630 genetic disease ISO RGD:1605295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359565 Mettl6 methyltransferase 6, methylcytidine gene DOID:9008939 Breast Neoplasms ISO RGD:1605295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 1359567 Plcz1 phospholipase C, zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:7240710 20190315 OMIM 1359567 Plcz1 phospholipase C, zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947 1359567 Plcz1 phospholipase C, zeta 1 gene DOID:630 genetic disease ISO RGD:1347399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359568 Zkscan2 zinc finger with KRAB and SCAN domains 2 gene DOID:630 genetic disease ISO RGD:1605808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359569 Sypl1 synaptophysin-like 1 gene DOID:1059 intellectual disability ISO RGD:1346991 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1359569 Sypl1 synaptophysin-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346991 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359569 Sypl1 synaptophysin-like 1 gene DOID:630 genetic disease ISO RGD:1346991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359572 Ino80e INO80 complex subunit E gene DOID:0060019 coronin-1A deficiency ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1359572 Ino80e INO80 complex subunit E gene DOID:0060041 autism spectrum disorder ISO RGD:1605827 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1359572 Ino80e INO80 complex subunit E gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605827 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1359572 Ino80e INO80 complex subunit E gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1359572 Ino80e INO80 complex subunit E gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1359572 Ino80e INO80 complex subunit E gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605827 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1359572 Ino80e INO80 complex subunit E gene DOID:12849 autistic disorder ISO RGD:1605827 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359572 Ino80e INO80 complex subunit E gene DOID:1882 atrial heart septal defect ISO RGD:1605827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1359572 Ino80e INO80 complex subunit E gene DOID:5419 schizophrenia ISO RGD:1605827 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359572 Ino80e INO80 complex subunit E gene DOID:630 genetic disease ISO RGD:1605827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359572 Ino80e INO80 complex subunit E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605827 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359572 Ino80e INO80 complex subunit E gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1359572 Ino80e INO80 complex subunit E gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605827 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1353234 D RGD:151361290|PMID:26035306 20220302 RGD DNA:SNP:intron: (rs13180356) (human) 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353234 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:26255102 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:4866 salivary gland adenoid cystic carcinoma susceptibility ISO RGD:1353234 D RGD:151361290|PMID:26035306 20220302 RGD DNA:SNP:intron: (rs13180356) (human) 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:630 genetic disease ISO RGD:1353234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:7240710 20170412 OMIM 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:18695064|PMID:24033266|PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:25742519|PMID:25839420|PMID:25872942|PMID:26255102|PMID:26822949|PMID:28492532 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353234 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:9004814 Chromosome Aberrations ISO RGD:1353234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20726224 1359573 Xrcc4 X-ray repair cross complementing 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353234 D RGD:8698655|PMID:17901044 20140812 RGD DNA:SNPs:multiple (human) 1359574 Os9 OS9, endoplasmic reticulum lectin gene DOID:630 genetic disease ISO RGD:1605693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359574 Os9 OS9, endoplasmic reticulum lectin gene DOID:6846 familial melanoma ISO RGD:1605693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1359576 Krt75 keratin 75 gene DOID:630 genetic disease ISO RGD:1603409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359576 Krt75 keratin 75 gene DOID:9006643 Pseudofolliculitis Barbae ISO RGD:1603409 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1359576 Krt75 keratin 75 gene DOID:9006643 Pseudofolliculitis Barbae ISO RGD:1603409 D RGD:8554872 20150224 ClinVar ClinVar Annotator: match by term: Pseudofolliculitis barbae PMID:15086549 1359576 Krt75 keratin 75 gene DOID:9006643 Pseudofolliculitis Barbae susceptibility ISO RGD:1603409 D RGD:7240710 20190502 OMIM 1359577 Sgcg sarcoglycan, gamma gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1347979 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1359577 Sgcg sarcoglycan, gamma gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1347979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:16199547|PMID:18285821|PMID:18414213|PMID:19770540|PMID:21896784|PMID:22095924|PMID:24033266|PMID:25605665|PMID:25741868|PMID:26467025|PMID:27708273|PMID:28492532|PMID:31517061|PMID:32875335|PMID:9673983 1359577 Sgcg sarcoglycan, gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:13605619|PMID:25802879 20180611 RGD DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human) 1359577 Sgcg sarcoglycan, gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:7240710 20130221 OMIM 1359577 Sgcg sarcoglycan, gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:10447257|PMID:10714584|PMID:10874299|PMID:10942431|PMID:12040521|PMID:12566530|PMID:12746421|PMID:1303286|PMID:14981741|PMID:15322984|PMID:15479193|PMID:16199547|PMID:16832103|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18996010|PMID:19031088|PMID:19167890|PMID:19208398|PMID:19763152|PMID:19770540|PMID:20307669|PMID:20345928|PMID:20623375|PMID:22095924|PMID:22240777|PMID:22406018|PMID:23929688|PMID:24033266|PMID:24180463|PMID:24534832|PMID:24552312|PMID:25605665|PMID:25640679|PMID:25741868|PMID:25802879|PMID:26467025|PMID:27708273|PMID:27759885|PMID:28492532|PMID:28687063|PMID:29970176|PMID:30107846|PMID:30564623|PMID:30838351|PMID:31268554|PMID:31517061|PMID:31785789|PMID:32214227|PMID:32875335|PMID:7481775|PMID:8923014|PMID:8968757|PMID:9536098|PMID:9658457|PMID:9673983|PMID:9781048 1359577 Sgcg sarcoglycan, gamma gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1347979 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1359577 Sgcg sarcoglycan, gamma gene DOID:11724 limb-girdle muscular dystrophy ISS RGD:1552804 D RGD:13592920 20180518 MouseDO 1359577 Sgcg sarcoglycan, gamma gene DOID:12930 dilated cardiomyopathy ISO RGD:1347979 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 1359577 Sgcg sarcoglycan, gamma gene DOID:1826 epilepsy ISO RGD:1347979 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1359577 Sgcg sarcoglycan, gamma gene DOID:5419 schizophrenia ISO RGD:1347979 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359577 Sgcg sarcoglycan, gamma gene DOID:607 paraplegia ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18285821|PMID:18398442|PMID:19031088|PMID:19208398|PMID:19892370|PMID:21745802|PMID:24180463|PMID:28492532 1359577 Sgcg sarcoglycan, gamma gene DOID:630 genetic disease ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359577 Sgcg sarcoglycan, gamma gene DOID:8398 osteoarthritis ISO RGD:1347979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1359577 Sgcg sarcoglycan, gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1347979 D RGD:13605620|PMID:28123479 20180611 RGD DNA:SNP: : rs9552911(human) 1359578 Cyyr1 cysteine and tyrosine rich 1 gene DOID:10652 Alzheimer's disease ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 1359578 Cyyr1 cysteine and tyrosine rich 1 gene DOID:630 genetic disease ISO RGD:1354035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359578 Cyyr1 cysteine and tyrosine rich 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354035 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359580 Atg5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:7240710 20190315 OMIM 1359580 Atg5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 PMID:15981765|PMID:26812546 1359580 Atg5 autophagy related 5 gene DOID:2355 anemia ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1359580 Atg5 autophagy related 5 gene DOID:326 ischemia IEP D RGD:11561945|PMID:25435100 20161114 RGD 1359580 Atg5 autophagy related 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1556965 D RGD:11561951|PMID:23851366 20161114 RGD mRNA:increased expression:spinal cord 1359580 Atg5 autophagy related 5 gene DOID:5082 liver cirrhosis ISO RGD:1353398 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 1359580 Atg5 autophagy related 5 gene DOID:614 lymphopenia ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1359580 Atg5 autophagy related 5 gene DOID:630 genetic disease ISO RGD:1353398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359580 Atg5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11553820|PMID:25040536 20161013 RGD protein:increased expression:axon 1359580 Atg5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353398 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 1359580 Atg5 autophagy related 5 gene DOID:9001981 Weight Loss ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1359580 Atg5 autophagy related 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353398 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 1359580 Atg5 autophagy related 5 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:11561938|PMID:24998254 20161111 RGD 1359580 Atg5 autophagy related 5 gene DOID:9005369 Hepatomegaly ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 1359580 Atg5 autophagy related 5 gene DOID:9005749 Necrosis ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20578144 1359580 Atg5 autophagy related 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 1359580 Atg5 autophagy related 5 gene DOID:9008617 Lethargy ISO RGD:1353398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 1359580 Atg5 autophagy related 5 gene DOID:9074 systemic lupus erythematosus ISS RGD:1556965 D RGD:13592920 20190502 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1359581 Ier2 immediate early response 2 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 1359581 Ier2 immediate early response 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1343257 D RGD:153323322|PMID:22120713 20220815 RGD protein:increased expression:colon (human) 1359581 Ier2 immediate early response 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 1359581 Ier2 immediate early response 2 gene DOID:0070323 childhood acute myeloid leukemia ISO RGD:1343257 D RGD:153323323|PMID:34702297 20220815 RGD mRNA:increased expression:bone marrow (human) 1359581 Ier2 immediate early response 2 gene DOID:0080600 COVID-19 ISO RGD:1343257 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1359581 Ier2 immediate early response 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1359581 Ier2 immediate early response 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1343257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1359581 Ier2 immediate early response 2 gene DOID:1909 melanoma disease_progression ISO RGD:1343257 D RGD:153323325|PMID:34611309 20220816 RGD mRNA:increased expression:skin (human) 1359581 Ier2 immediate early response 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1343257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1359581 Ier2 immediate early response 2 gene DOID:630 genetic disease ISO RGD:1343257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359581 Ier2 immediate early response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343257 D RGD:153323326|PMID:32009420 20220816 RGD mRNA, protein:decreased expression:liver (human) 1359581 Ier2 immediate early response 2 gene DOID:9000081 Lymphatic Metastasis IMP D RGD:153323322|PMID:22120713 20220815 RGD 1359581 Ier2 immediate early response 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343257 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1359581 Ier2 immediate early response 2 gene DOID:9256 colorectal cancer ISO RGD:1343257 D RGD:153323328|PMID:34311674 20220816 RGD DNA:hypomethylation:promoter (human) 1359583 MGC105649 hypothetical LOC302884 gene DOID:0050712 AGAT deficiency ISO RGD:1601736 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1359583 MGC105649 hypothetical LOC302884 gene DOID:2717 Bloom syndrome ISO RGD:1601736 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359583 MGC105649 hypothetical LOC302884 gene DOID:630 genetic disease ISO RGD:1601736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359583 MGC105649 hypothetical LOC302884 gene DOID:9256 colorectal cancer ISO RGD:1601736 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359585 Fhip1b FHF complex subunit HOOK interacting protein 1B gene DOID:10283 prostate cancer ISO RGD:1604775 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1359585 Fhip1b FHF complex subunit HOOK interacting protein 1B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604775 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1359585 Fhip1b FHF complex subunit HOOK interacting protein 1B gene DOID:630 genetic disease ISO RGD:1604775 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351918 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:1749 squamous cell carcinoma ISO RGD:1351918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:1351918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:1351918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9007364 Mouth Neoplasms ISO RGD:1351918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 1359587 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9008939 Breast Neoplasms ISO RGD:1351918 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0050476 Barth syndrome ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria PMID:10480214|PMID:11238270|PMID:11748843|PMID:11968085|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:1719174|PMID:17576681|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23409742|PMID:23660394|PMID:24033266|PMID:24365856|PMID:24962355|PMID:25652404|PMID:25741868|PMID:26471271|PMID:26845103|PMID:28492532|PMID:29334594|PMID:31333075|PMID:31568572|PMID:9345098|PMID:9384614|PMID:9536098 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348755 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348755 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1348755 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348755 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:12849 autistic disorder ISO RGD:1348755 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:12929 endocardial fibroelastosis ISO RGD:1348755 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348755 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:13628 favism ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:607 paraplegia ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:630 genetic disease ISO RGD:1348755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348755 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:31333075|PMID:31568572 1359588 Dnase1l1 deoxyribonuclease 1-like 1 gene DOID:9002720 Splenomegaly ISO RGD:1348755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1359589 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1359589 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353353 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1359589 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1359589 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:630 genetic disease ISO RGD:1353353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359589 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1359591 Pelo pelota mRNA surveillance and ribosome rescue factor gene DOID:630 genetic disease ISO RGD:1343336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359591 Pelo pelota mRNA surveillance and ribosome rescue factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343336 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359592 Fam149b1 family with sequence similarity 149, member B1 gene DOID:0050777 Joubert syndrome ISO RGD:1351219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:30905400 1359592 Fam149b1 family with sequence similarity 149, member B1 gene DOID:630 genetic disease ISO RGD:1351219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359592 Fam149b1 family with sequence similarity 149, member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:7240710 20200226 OMIM 1359592 Fam149b1 family with sequence similarity 149, member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Joubert syndrome 36 PMID:30905400 1359593 Cep83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:7240710 20140911 OMIM 1359593 Cep83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:16199547|PMID:17576681|PMID:23530209|PMID:24882706|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9536098 1359593 Cep83 centrosomal protein 83 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606008 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1359593 Cep83 centrosomal protein 83 gene DOID:11372 megacolon ISO RGD:1606008 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359593 Cep83 centrosomal protein 83 gene DOID:630 genetic disease ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359596 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1359596 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604523 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1359596 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:1826 epilepsy ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1359596 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359596 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1359597 Krt73 keratin 73 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1605236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1359597 Krt73 keratin 73 gene DOID:630 genetic disease ISO RGD:1605236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359599 Wsb2 WD repeat and SOCS box-containing 2 gene DOID:630 genetic disease ISO RGD:1346731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359600 Fam210a family with sequence similarity 210, member A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352066 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1359600 Fam210a family with sequence similarity 210, member A gene DOID:1059 intellectual disability ISO RGD:1352066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359600 Fam210a family with sequence similarity 210, member A gene DOID:630 genetic disease ISO RGD:1352066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359600 Fam210a family with sequence similarity 210, member A gene DOID:9002589 Bone Fractures ISO RGD:1352066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 1359601 Stk19 serine/threonine kinase 19 gene DOID:0050553 JMP syndrome ISO RGD:1347475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359601 Stk19 serine/threonine kinase 19 gene DOID:1909 melanoma ISO RGD:1347475 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 1359601 Stk19 serine/threonine kinase 19 gene DOID:2513 basal cell carcinoma ISO RGD:1347475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 1359601 Stk19 serine/threonine kinase 19 gene DOID:630 genetic disease ISO RGD:1347475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359601 Stk19 serine/threonine kinase 19 gene DOID:8923 skin melanoma ISO RGD:1347475 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:0050144 Kartagener syndrome ISS RGD:1615480 D RGD:13592920 20180518 MouseDO 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347605 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:7240710 20130221 OMIM 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25741868|PMID:25802884|PMID:28492532|PMID:9536098 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25640679|PMID:25741868|PMID:25802884|PMID:28492532|PMID:32253119|PMID:9536098 1359602 Dnai2 dynein, axonemal, intermediate chain 2 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1615480 D RGD:13592920 20180518 MouseDO 1359603 N4bp2l2 NEDD4 binding protein 2-like 2 gene DOID:37 skin disease ISO RGD:1603408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1359603 N4bp2l2 NEDD4 binding protein 2-like 2 gene DOID:630 genetic disease ISO RGD:1603408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359603 N4bp2l2 NEDD4 binding protein 2-like 2 gene DOID:9007661 Dwarfism ISO RGD:1603408 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1359603 N4bp2l2 NEDD4 binding protein 2-like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1603408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1359604 Ttc1 tetratricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:1345432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359605 Dbx2 developing brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1605171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359606 Zfp385d zinc finger protein 385D gene DOID:303 substance-related disorder ISO RGD:1354143 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1359606 Zfp385d zinc finger protein 385D gene DOID:630 genetic disease ISO RGD:1354143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359606 Zfp385d zinc finger protein 385D gene DOID:670 amphetamine abuse ISO RGD:1354143 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1359607 Spi1 Spi-1 proto-oncogene gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1344411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1359607 Spi1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:7240710 20220202 OMIM 1359607 Spi1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant PMID:25741868|PMID:33951726 1359607 Spi1 Spi-1 proto-oncogene gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 1359607 Spi1 Spi-1 proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1344411 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359607 Spi1 Spi-1 proto-oncogene gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344411 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1359607 Spi1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder IEP D RGD:9586723|PMID:16272341 20141002 RGD protein:decreased expression:alveolar macrophage 1359607 Spi1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder treatment IDA D RGD:9586725|PMID:21447000 20141002 RGD 1359607 Spi1 Spi-1 proto-oncogene gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344411 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:28671687 1359607 Spi1 Spi-1 proto-oncogene gene DOID:630 genetic disease ISO RGD:1344411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359607 Spi1 Spi-1 proto-oncogene gene DOID:8692 myeloid leukemia ISO RGD:1344411 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17361223 1359607 Spi1 Spi-1 proto-oncogene gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9586724|PMID:10713349 20141002 RGD protein:increased expression:CA1 field of hippocampus 1359607 Spi1 Spi-1 proto-oncogene gene DOID:9004283 Transplant Rejection treatment IMP D RGD:9586451|PMID:24282365 20141001 RGD 1359607 Spi1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1344411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 1359609 Nasp nuclear autoantigenic sperm protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1359609 Nasp nuclear autoantigenic sperm protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605124 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1359609 Nasp nuclear autoantigenic sperm protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1359609 Nasp nuclear autoantigenic sperm protein gene DOID:2394 ovarian cancer ISO RGD:1605124 D RGD:9590111|PMID:20164540 20141112 RGD protein:increased expression:ovary (human) 1359609 Nasp nuclear autoantigenic sperm protein gene DOID:630 genetic disease ISO RGD:1605124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359609 Nasp nuclear autoantigenic sperm protein gene DOID:9007456 Female Infertility ISO RGD:1552828 D RGD:9590110|PMID:19219058 20141112 RGD 1359612 Vom1r10 vomeronasal 1 receptor 10 gene DOID:630 genetic disease ISO RGD:1353808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1342471 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1342471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:7240710 20190315 OMIM 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29936144|PMID:30657919 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:1059 intellectual disability ISO RGD:1342471 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:3307 teratoma ISO RGD:1342471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:630 genetic disease ISO RGD:1342471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1342471 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 1359613 Creb3l1 cAMP responsive element binding protein 3-like 1 gene DOID:905 Zellweger syndrome ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1359614 Ffar2 free fatty acid receptor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1359614 Ffar2 free fatty acid receptor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1359614 Ffar2 free fatty acid receptor 2 gene DOID:10825 essential hypertension ISO RGD:1347517 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 1359614 Ffar2 free fatty acid receptor 2 gene DOID:543 dystonia ISO RGD:1347517 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1359614 Ffar2 free fatty acid receptor 2 gene DOID:630 genetic disease ISO RGD:1347517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359615 Dlst dihydrolipoamide S-succinyltransferase gene DOID:1059 intellectual disability ISO RGD:1351694 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1359615 Dlst dihydrolipoamide S-succinyltransferase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1351694 D RGD:9068941 20200806 RGD DNA:polymorphisms: : PMID:10227647|REF_RGD_ID:1358587 1359615 Dlst dihydrolipoamide S-succinyltransferase gene DOID:630 genetic disease ISO RGD:1351694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359615 Dlst dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:7240710 20190710 OMIM 1359615 Dlst dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 7 PMID:25741868|PMID:30929736 1359616 Ints14 integrator complex subunit 14 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604589 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1359616 Ints14 integrator complex subunit 14 gene DOID:2717 Bloom syndrome ISO RGD:1604589 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1359616 Ints14 integrator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1604589 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359616 Ints14 integrator complex subunit 14 gene DOID:9256 colorectal cancer ISO RGD:1604589 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1359617 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:630 genetic disease ISO RGD:1342803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359618 Dhx40 DEAH-box helicase 40 gene DOID:0050777 Joubert syndrome ISO RGD:1350869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1359618 Dhx40 DEAH-box helicase 40 gene DOID:630 genetic disease ISO RGD:1350869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359619 Ssbp4 single stranded DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1350792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359619 Ssbp4 single stranded DNA binding protein 4 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1350792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:0060224 atrial fibrillation ISO RGD:1350160 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:0080600 COVID-19 ISO RGD:1350160 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1350160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:12177 common variable immunodeficiency ISO RGD:1350160 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:17576681|PMID:23493554|PMID:25741868|PMID:28492532|PMID:9536098 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:2729 dyskeratosis congenita ISO RGD:1350160 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:552 pneumonia ISO RGD:1350160 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:630 genetic disease ISO RGD:1350160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359620 Tnfsf12 TNF superfamily member 12 gene DOID:9000998 Brain Injuries ISO RGD:1350160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344064 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:12849 autistic disorder ISO RGD:1344064 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:607 paraplegia ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:630 genetic disease ISO RGD:1344064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359621 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 1359622 Ttll9 tubulin tyrosine ligase like 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1359622 Ttll9 tubulin tyrosine ligase like 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1345675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1359622 Ttll9 tubulin tyrosine ligase like 9 gene DOID:630 genetic disease ISO RGD:1345675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359622 Ttll9 tubulin tyrosine ligase like 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1345675 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1359623 Tuba4a tubulin, alpha 4A gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1344170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 1359623 Tuba4a tubulin, alpha 4A gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:7240710 20160608 OMIM 1359623 Tuba4a tubulin, alpha 4A gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 PMID:25374358|PMID:25741868 1359623 Tuba4a tubulin, alpha 4A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1344170 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1359623 Tuba4a tubulin, alpha 4A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1359623 Tuba4a tubulin, alpha 4A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1359623 Tuba4a tubulin, alpha 4A gene DOID:1148 polydactyly ISO RGD:1344170 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1359623 Tuba4a tubulin, alpha 4A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344170 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:28478440 1359623 Tuba4a tubulin, alpha 4A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1359623 Tuba4a tubulin, alpha 4A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1359623 Tuba4a tubulin, alpha 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344170 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:7240710 20140911 OMIM 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:20301779|PMID:21205863|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:32303682|PMID:34573280 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1605665 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:12177 common variable immunodeficiency ISO RGD:1605665 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:1612 breast cancer ISO RGD:1605665 D RGD:11251665|PMID:26460974 20200224 RGD protein:altered localization:nucleus,cytoplasm: 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:1612 breast cancer ISO RGD:1605665 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:1612 breast cancer no_association ISO RGD:1605665 D RGD:21081531|PMID:25134915 20200224 RGD DNA:SNP: : rs2287499(human) 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:1984 rectal benign neoplasm treatment ISO RGD:1605665 D RGD:21081677|PMID:22805008 20200226 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1605665 D RGD:11522675|PMID:26426684 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:2394 ovarian cancer susceptibility ISO RGD:1605665 D RGD:21081534|PMID:23192612 20200224 RGD DNA:SNPs: : 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:2729 dyskeratosis congenita ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28369373|PMID:28492532|PMID:9242456|PMID:9536098 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:21081532|PMID:24626331 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:21081513|PMID:31281482 20200221 RGD RNA:increased expression:lung 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:21081519|PMID:30344734 20200224 RGD DNA:hypermethylation:promoter 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1605665 D RGD:21081522|PMID:28347242 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605665 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:1605665 D RGD:21081529|PMID:25456005 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:1605665 D RGD:21081533|PMID:25070141 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:630 genetic disease ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:684 hepatocellular carcinoma ISO RGD:1605665 D RGD:11096781|PMID:26551349 20200224 RGD RNA:increased expression:liver: 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:7031 glottis squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:21081521|PMID:28849066 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:21081513|PMID:31281482 20200221 RGD associated with lung non-small cell carcinoma; 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:21081532|PMID:24626331 20200224 RGD associated with esophagus squamous cell carcinoma; 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1605665 D RGD:21081678|PMID:21205863 20200226 RGD DNA:mutations:exons: 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605665 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9007633 Body Weight ISO RGD:1605665 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31243981 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9256 colorectal cancer ISO RGD:1605665 D RGD:21081520|PMID:30175821 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9256 colorectal cancer onset ISO RGD:1605665 D RGD:21081528|PMID:26013439 20200224 RGD 1359624 Wrap53 WD repeat containing, antisense to TP53 gene DOID:9261 nasopharynx carcinoma ISO RGD:1605665 D RGD:21081524|PMID:28607398 20200224 RGD associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:0080600 COVID-19 ISO RGD:1603678 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603678 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:630 genetic disease ISO RGD:1603678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359625 Ns5atp4 NS5A transactivated protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603678 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359626 IgG-2a gamma-2a immunoglobulin heavy chain gene DOID:0080600 COVID-19 ISO RGD:1346926 D RGD:9068941 20220114 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1359626 IgG-2a gamma-2a immunoglobulin heavy chain gene DOID:3021 acute kidney failure EXP D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 1359626 IgG-2a gamma-2a immunoglobulin heavy chain gene DOID:9005369 Hepatomegaly EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1359626 IgG-2a gamma-2a immunoglobulin heavy chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions EXP D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 1359627 Zbtb22 zinc finger and BTB domain containing 22 gene DOID:0050553 JMP syndrome ISO RGD:1352119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1359627 Zbtb22 zinc finger and BTB domain containing 22 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1352119 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1359627 Zbtb22 zinc finger and BTB domain containing 22 gene DOID:630 genetic disease ISO RGD:1352119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359629 Emp2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:7240710 20170329 OMIM 1359629 Emp2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 10 PMID:24814193|PMID:25741868|PMID:28492532 1359629 Emp2 epithelial membrane protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1359629 Emp2 epithelial membrane protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1359629 Emp2 epithelial membrane protein 2 gene DOID:3891 placental insufficiency ISS RGD:1552846 D RGD:13592920 20180518 MouseDO 1359629 Emp2 epithelial membrane protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 1359629 Emp2 epithelial membrane protein 2 gene DOID:630 genetic disease ISO RGD:1344065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359630 RT1-CE15 RT1 class I, locus CE15 gene DOID:1245 vulva cancer susceptibility ISO RGD:1349444 D RGD:2314696|PMID:12543794 20210309 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2 1359630 RT1-CE15 RT1 class I, locus CE15 gene DOID:399 tuberculosis susceptibility ISO RGD:1349444 D RGD:36049809|PMID:19030725 20210309 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 1359630 RT1-CE15 RT1 class I, locus CE15 gene DOID:635 acquired immunodeficiency syndrome susceptibility ISO RGD:1349444 D RGD:36049809|PMID:19030725 20210309 RGD DNA:polymorphism: :HLA-A31 1359631 Tceal8 transcription elongation factor A like 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352350 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359631 Tceal8 transcription elongation factor A like 8 gene DOID:12849 autistic disorder ISO RGD:1352350 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359631 Tceal8 transcription elongation factor A like 8 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352350 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 1359631 Tceal8 transcription elongation factor A like 8 gene DOID:630 genetic disease ISO RGD:1352350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359633 Neurl3 neuralized E3 ubiquitin protein ligase 3 gene DOID:5419 schizophrenia ISO RGD:1605013 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1359634 RGD1359634 similar to RIKEN cDNA 1700088E04 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1359634 RGD1359634 similar to RIKEN cDNA 1700088E04 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1359634 RGD1359634 similar to RIKEN cDNA 1700088E04 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1359634 RGD1359634 similar to RIKEN cDNA 1700088E04 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1359634 RGD1359634 similar to RIKEN cDNA 1700088E04 gene DOID:630 genetic disease ISO RGD:1351784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:0050902 medulloblastoma ISO RGD:1346548 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:31594641 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346548 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1346548 D RGD:1556509|PMID:15297879 20150213 RGD protein:increased activity:ventricle: 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1552365 D RGD:1556509|PMID:15297879 20150213 RGD protein:increased activity:heart: 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:630 genetic disease ISO RGD:1346548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359638 Cdk9 cyclin-dependent kinase 9 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9698426|PMID:20828602 20150213 RGD mRNA,protein:decreased expression:liver: 1359639 Stard6 StAR-related lipid transfer domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1351128 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359639 Stard6 StAR-related lipid transfer domain containing 6 gene DOID:630 genetic disease ISO RGD:1351128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359642 Igsf5 immunoglobulin superfamily, member 5 gene DOID:12849 autistic disorder ISO RGD:1352549 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359642 Igsf5 immunoglobulin superfamily, member 5 gene DOID:630 genetic disease ISO RGD:1352549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359642 Igsf5 immunoglobulin superfamily, member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352549 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1359644 Cyb561d2 cytochrome b561 family, member D2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:155782982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:9536098 1359644 Cyb561d2 cytochrome b561 family, member D2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:155782982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:9536098 1359644 Cyb561d2 cytochrome b561 family, member D2 gene DOID:630 genetic disease ISO RGD:155782982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359644 Cyb561d2 cytochrome b561 family, member D2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:155782982 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:18487195|PMID:23339110|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29997391|PMID:30410802 1359644 Cyb561d2 cytochrome b561 family, member D2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:155782982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1359645 Trim40 tripartite motif-containing 40 gene DOID:11372 megacolon ISO RGD:1346356 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359645 Trim40 tripartite motif-containing 40 gene DOID:2772 irritant dermatitis ISO RGD:1346356 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 1359645 Trim40 tripartite motif-containing 40 gene DOID:630 genetic disease ISO RGD:1346356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359646 Gtf2f1 general transcription factor IIF subunit 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1359646 Gtf2f1 general transcription factor IIF subunit 1 gene DOID:630 genetic disease ISO RGD:1343690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359648 Skp1 S-phase kinase-associated protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359648 Skp1 S-phase kinase-associated protein 1 gene DOID:630 genetic disease ISO RGD:1347276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359648 Skp1 S-phase kinase-associated protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1347276 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Keratoconus 1 1359648 Skp1 S-phase kinase-associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347276 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359648 Skp1 S-phase kinase-associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1359649 Abhd14b abhydrolase domain containing 14b gene DOID:630 genetic disease ISO RGD:1603002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0050765 neuroacanthocytosis ISO RGD:1351512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8619554|PMID:11761473 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351512 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:20729109|PMID:22929960|PMID:27701760|PMID:28492532|PMID:8634410|PMID:9585602 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1351512 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:7240710 20141015 OMIM 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome PMID:10426139|PMID:11261514|PMID:11703337|PMID:11761473|PMID:11961232|PMID:13860532|PMID:17133513|PMID:17302777|PMID:25741868|PMID:28492532|PMID:30800707|PMID:8004674|PMID:8619554 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:12849 autistic disorder ISO RGD:1351512 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:150 disease of mental health ISO RGD:1351512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:440 neuromuscular disease ISO RGD:1351512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:480 movement disease ISO RGD:1351512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1351512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11761473 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:630 genetic disease ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:1354522|PMID:8004674 20070220 RGD McLeod syndrome, OMIM:314850 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351512 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1351512 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1359650 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1345099 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21181198|PMID:23768514|PMID:24824130|PMID:25741868 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:33260297 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:7240710 20130221 OMIM 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B PMID:20920668|PMID:23596069|PMID:24033266|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:7240710 20130911 OMIM 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 89 PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24033266|PMID:24824130|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:32730690|PMID:33260297|PMID:34062854 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:10579 leukodystrophy ISO RGD:1345099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:33260297 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1345099 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20920668|PMID:28492532 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy IEP D RGD:12910554|PMID:25467976 20170620 RGD mRNA,protein:decreased expression:dorsal root ganglion: 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:1891 optic nerve disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10913247|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30369941|PMID:31116475 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:7240710 20210414 OMIM 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24824130|PMID:25356970|PMID:25741868|PMID:27243033|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30369941|PMID:31116475|PMID:32730690|PMID:33260297|PMID:33942428 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:7240710 20210407 OMIM 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy PMID:21427441|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 1359653 Kars1 lysyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1345099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33260297 1359654 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1346197 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:25741868 1359654 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:1909 melanoma ISO RGD:1346197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1359654 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1346197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359654 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1359655 Slc16a4 solute carrier family 16, member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1359655 Slc16a4 solute carrier family 16, member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1359655 Slc16a4 solute carrier family 16, member 4 gene DOID:12849 autistic disorder ISO RGD:1348929 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359655 Slc16a4 solute carrier family 16, member 4 gene DOID:630 genetic disease ISO RGD:1348929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2289752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2289752 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2289752 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2289752 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0110994 Joubert syndrome 25 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0111934 immunodeficiency 38 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:0111935 immunodeficiency 16 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2289752 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:630 genetic disease ISO RGD:2289752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289752 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2289752 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359656 Cptp ceramide-1-phosphate transfer protein gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359657 Actrt2 actin-related protein T2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359657 Actrt2 actin-related protein T2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606455 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1359657 Actrt2 actin-related protein T2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606455 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359657 Actrt2 actin-related protein T2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606455 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1359657 Actrt2 actin-related protein T2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359657 Actrt2 actin-related protein T2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359657 Actrt2 actin-related protein T2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359657 Actrt2 actin-related protein T2 gene DOID:630 genetic disease ISO RGD:1606455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359657 Actrt2 actin-related protein T2 gene DOID:9000058 Keloid ISO RGD:1606455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1359657 Actrt2 actin-related protein T2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606455 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359657 Actrt2 actin-related protein T2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606455 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1359657 Actrt2 actin-related protein T2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:7240710 20130221 OMIM 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:20727375|PMID:21274865|PMID:22277166|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28105683|PMID:28322498|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670|PMID:9545407 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347169 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:7240710 20130221 OMIM 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22277967|PMID:22310368|PMID:22991165|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31316545|PMID:31435670|PMID:32313153|PMID:32581362|PMID:9545407 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:7240710 20130221 OMIM 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19285991|PMID:19389488|PMID:19508421|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22310368|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26467025|PMID:26489029|PMID:26563427|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31435670|PMID:33511646|PMID:9545407 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:1059 intellectual disability ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:10907 microcephaly ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:1826 epilepsy ISO RGD:1347169 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:630 genetic disease ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12215968|PMID:16199547|PMID:17314340|PMID:17403714|PMID:19162478|PMID:19508421|PMID:22277166|PMID:25741868|PMID:25895478|PMID:25954003|PMID:27618451|PMID:27959697|PMID:28490743|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1347169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:22277166|PMID:24033266|PMID:25741868|PMID:25895478|PMID:28492532 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347169 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1347169 D RGD:1600515|PMID:11528392 20070312 RGD DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000 1359658 Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene DOID:936 brain disease ISO RGD:1347169 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1359660 Icam2 intercellular adhesion molecule 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1351795 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1359660 Icam2 intercellular adhesion molecule 2 gene DOID:1790 malignant mesothelioma ISO RGD:1351795 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 1359660 Icam2 intercellular adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1351795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359660 Icam2 intercellular adhesion molecule 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1359660 Icam2 intercellular adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359661 Shisa5 shisa family member 5 gene DOID:630 genetic disease ISO RGD:1602716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359661 Shisa5 shisa family member 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602716 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1359661 Shisa5 shisa family member 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1359663 MGC94207 similar to RIKEN cDNA C030006K11 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 1359663 MGC94207 similar to RIKEN cDNA C030006K11 gene DOID:630 genetic disease ISO RGD:1606363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359664 Krt1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20130221 OMIM 1359664 Krt1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma PMID:12406346|PMID:19470048|PMID:25741868|PMID:28492532|PMID:7528239 1359664 Krt1 keratin 1 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20130221 OMIM 1359664 Krt1 keratin 1 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:11286630|PMID:28492532 1359664 Krt1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:7240710 20130221 OMIM 1359664 Krt1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 PMID:11286616|PMID:11982762 1359664 Krt1 keratin 1 gene DOID:10283 prostate cancer ISO RGD:1346930 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1359664 Krt1 keratin 1 gene DOID:161 keratosis ISO RGD:1346930 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 1359664 Krt1 keratin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1346930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1359664 Krt1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1346930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:11531804|PMID:11559215|PMID:12406348|PMID:1380725|PMID:1381288|PMID:25741868|PMID:26581228|PMID:28492532|PMID:33363884|PMID:7511022|PMID:7512983 1359664 Krt1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis ISS RGD:1551889 D RGD:13592920 20230518 MouseDO OMIM:113800 1359664 Krt1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1346930 D RGD:1600166|PMID:11286616 20070301 RGD DNA:mutation: ; 5191/5192GG>A 1359664 Krt1 keratin 1 gene DOID:630 genetic disease ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359664 Krt1 keratin 1 gene DOID:9000550 Epidermolytic Hyperkeratosis, Late-Onset ISO RGD:1346930 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Epidermolytic hyperkeratosis, late-onset PMID:12648226 1359664 Krt1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:7240710 20130221 OMIM 1359664 Krt1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type PMID:16417221|PMID:21844476|PMID:22834809 1359664 Krt1 keratin 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1346930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1359664 Krt1 keratin 1 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1346930 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:10053007|PMID:14708600|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556|PMID:31046801|PMID:8751983 1359664 Krt1 keratin 1 gene DOID:9006135 Epidermolytic Hyperkeratosis 1 ISO RGD:1346930 D RGD:7240710 20230517 OMIM 1359664 Krt1 keratin 1 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1346930 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:25774499 1359664 Krt1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:7240710 20221214 OMIM 1359664 Krt1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 PMID:10053007|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:1059 intellectual disability ISO RGD:1347202 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:2746 glycogen storage disease V ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1347202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1359665 mrpl11 mitochondrial ribosomal protein L11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1359666 Ccdc82 coiled-coil domain containing 82 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:28397838|PMID:35118659 1359666 Ccdc82 coiled-coil domain containing 82 gene DOID:1059 intellectual disability ISO RGD:1602861 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359666 Ccdc82 coiled-coil domain containing 82 gene DOID:12704 ataxia telangiectasia ISO RGD:1602861 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1359666 Ccdc82 coiled-coil domain containing 82 gene DOID:630 genetic disease ISO RGD:1602861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350002 D RGD:1556706|PMID:11349233 20120702 RGD DNA:point mutations, deletions:cds:multiple (human) 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25326635|PMID:25741868|PMID:28492532 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:7240710 20190315 OMIM 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 PMID:11349233|PMID:15824269|PMID:19167255|PMID:20382551|PMID:20819849|PMID:21203893|PMID:21458341|PMID:22200994|PMID:25741868|PMID:28492532 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350002 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11372 megacolon ISO RGD:1350002 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14330 Parkinson's disease onset ISO RGD:1551403 D RGD:6484690|PMID:21196577 20120629 RGD protein:increased oxidation:brain, mitochondrion (mouse) 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:1485 cystic fibrosis ISO RGD:1551403 D RGD:6484688|PMID:21518732 20120629 RGD protein:increased oxidation:colonic epithelium, mitochondrion (mouse) 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3652 Leigh disease ISO RGD:1350002 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3687 MELAS syndrome ISO RGD:1350002 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:22499341 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:630 genetic disease ISO RGD:1350002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:655 inherited metabolic disorder ISO RGD:1350002 D RGD:1556706|PMID:11349233 20070315 RGD mitochondrial complex I deficiency, OMIM:252010, deletion:664delCAT, point mutation:D252G 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350002 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000918 Disease Progression ISO RGD:1350002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350002 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359670 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13801200|PMID:21700931 20181105 RGD 1359671 Dctd dCMP deaminase gene DOID:630 genetic disease ISO RGD:1349899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359672 Slc12a7 solute carrier family 12 member 7 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348814 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1359672 Slc12a7 solute carrier family 12 member 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1348814 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359672 Slc12a7 solute carrier family 12 member 7 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1348814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1359672 Slc12a7 solute carrier family 12 member 7 gene DOID:11054 urinary bladder cancer ISO RGD:1348814 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1359672 Slc12a7 solute carrier family 12 member 7 gene DOID:630 genetic disease ISO RGD:1348814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359672 Slc12a7 solute carrier family 12 member 7 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1348814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343816 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343816 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060825 Christianson syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1343816 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0112055 non-syndromic X-linked intellectual disability 46 ISO RGD:1343816 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 46 PMID:11017088|PMID:18414213|PMID:25741868|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability ISO RGD:1343816 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability susceptibility ISO RGD:1343816 D RGD:1599214|PMID:11017088 20070119 RGD 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:12849 autistic disorder ISO RGD:1343816 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9002704 Leukoencephalopathies ISO RGD:1343816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARHGEF6-associated Neurodevelopmental disorder 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:1343816 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:25741868 1359674 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 1359675 Mrps15 mitochondrial ribosomal protein S15 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347502 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1359675 Mrps15 mitochondrial ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:1347502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359677 Dnajb12 DnaJ heat shock protein family (Hsp40) member B12 gene DOID:630 genetic disease ISO RGD:1348292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1352340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1352340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1856 cherubism ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1352340 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1352340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352340 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23392203 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1352340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007578 LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: LETM1-associated clinical spectrum with predominant nervous system involvement PMID:25741868|PMID:36055214 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:7240710 20221214 OMIM 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction PMID:25741868|PMID:36055214 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36055214 1359678 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 1359679 Lefty2 Left-right determination factor 2 gene DOID:9007456 Female Infertility ISO RGD:1348079 D RGD:1598793|PMID:10902804 20061219 RGD 1359680 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1343459 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:32403198 1359680 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343459 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359680 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1343459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359680 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:7240710 20211027 OMIM 1359680 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome PMID:25741868|PMID:32403198|PMID:35869884 1359680 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343459 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:0080600 COVID-19 ISO RGD:1353716 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:14497 Wolman disease ISO RGD:1353716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:6000 congestive heart failure ISO RGD:1353716 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:630 genetic disease ISO RGD:1353716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1353716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:9001488 Human Influenza ISO RGD:1353716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1359681 Ifit3 interferon-induced protein with tetratricopeptide repeats 3 gene DOID:9006205 Animal Disease Models ISO RGD:1353716 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1359682 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1359682 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:5339 cyclic hematopoiesis ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1359682 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:630 genetic disease ISO RGD:1347246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359682 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347246 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1359683 Btk Bruton tyrosine kinase gene DOID:0040084 Streptococcus pneumonia ISO RGD:1551411 D RGD:124715473|PMID:30873567 20210325 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:1342660 D RGD:11040699|PMID:23045577 20160314 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1342660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome 1359683 Btk Bruton tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:oral epithelium (human) PMID:33640903|REF_RGD_ID:151347851 1359683 Btk Bruton tyrosine kinase gene DOID:0060180 colitis ameliorates ISO RGD:1551411 D RGD:124713568|PMID:25379804 20210325 RGD Associated with candidiasis 1359683 Btk Bruton tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342660 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359683 Btk Bruton tyrosine kinase gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1342660 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1359683 Btk Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:7240710 20130221 OMIM 1359683 Btk Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:10092645|PMID:10373551|PMID:10612838|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11027452|PMID:11206059|PMID:11410123|PMID:11438999|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11668622|PMID:11742281|PMID:11809909|PMID:11892085|PMID:11956200|PMID:12204007|PMID:12217331|PMID:1240516|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15024743|PMID:15112668|PMID:15358621|PMID:15661032|PMID:15821893|PMID:16159644|PMID:16199547|PMID:16712653|PMID:16729790|PMID:16862044|PMID:16943681|PMID:16951917|PMID:17045652|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19763152|PMID:19904586|PMID:20307669|PMID:20529312|PMID:20721470|PMID:21039741|PMID:21520333|PMID:21984432|PMID:22406018|PMID:22736418|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24307874|PMID:24383975|PMID:24477949|PMID:24586880|PMID:24658450|PMID:24869598|PMID:24885015|PMID:25082755|PMID:25189416|PMID:25270678|PMID:25640679|PMID:25741868|PMID:25777788|PMID:26915675|PMID:26931785|PMID:26960951|PMID:27199251|PMID:27512878|PMID:27535475|PMID:27577878|PMID:27593100|PMID:27980540|PMID:28049639|PMID:28212557|PMID:28236219|PMID:28359783|PMID:28418267|PMID:28492532|PMID:29424453|PMID:29496671|PMID:29503650|PMID:29709555|PMID:29875397|PMID:29921932|PMID:30018078|PMID:30072168|PMID:30240888|PMID:30290665|PMID:30311057|PMID:30564228|PMID:30697212|PMID:30882382|PMID:32067425|PMID:32441320|PMID:32499645|PMID:32552675|PMID:32581362|PMID:32888943|PMID:33224144|PMID:33377626|PMID:33815962|PMID:34029777|PMID:34182127|PMID:34262886|PMID:3486747|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8013627|PMID:8090769|PMID:8162018|PMID:8162056|PMID:8332900|PMID:8332901|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8723128|PMID:8834236|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9192269|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 1359683 Btk Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32503877 1359683 Btk Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:124713553|PMID:32503877 20210322 RGD protein:increased phosphorylation:blood, monocyte (human) 1359683 Btk Bruton tyrosine kinase gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:10092645|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11668622|PMID:11742281|PMID:12217331|PMID:14974089|PMID:15661032|PMID:16862044|PMID:16951917|PMID:17327079|PMID:17765309|PMID:18518992|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:23424595|PMID:25741868|PMID:27512878|PMID:27980540|PMID:28492532|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30564228|PMID:7678697|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8939985|PMID:9143921|PMID:9188445|PMID:9445504|PMID:9524120|PMID:9545398|PMID:9880544 1359683 Btk Bruton tyrosine kinase gene DOID:11573 listeriosis ameliorates ISO RGD:1551411 D RGD:124713555|PMID:23544144 20210322 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:12053 cryptococcosis exacerbates ISO RGD:1551411 D RGD:124715476|PMID:23820392 20210325 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1342660 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359683 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:11040588|PMID:15024743 20160311 RGD DNA:mutations:exon, intron:multiple 1359683 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:11040698|PMID:12655572 20160314 RGD DNA:mutations:exon, intron:multiple 1359683 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:7240710 20130221 OMIM 1359683 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia PMID:10092645|PMID:10678660|PMID:10737994|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11102984|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11564824|PMID:11586956|PMID:11668622|PMID:11742281|PMID:11809909|PMID:12204007|PMID:12217331|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15112668|PMID:15661032|PMID:16053733|PMID:16160918|PMID:16199547|PMID:16712653|PMID:16751014|PMID:16862044|PMID:16951917|PMID:17045652|PMID:17164954|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:21397315|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24383975|PMID:24820629|PMID:24885015|PMID:25142992|PMID:25525159|PMID:25741868|PMID:26915675|PMID:26981933|PMID:27512878|PMID:27577878|PMID:27980540|PMID:28492532|PMID:2896233|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30240888|PMID:30564228|PMID:30627929|PMID:31803177|PMID:32499645|PMID:32581362|PMID:34029777|PMID:4697357|PMID:7554467|PMID:7627183|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8164701|PMID:8164707|PMID:8380905|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 1359683 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:124713551|PMID:15142874 20210322 RGD human gene in a mouse model 1359683 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:124715475|PMID:20574453 20210325 RGD Human gene in mouse model 1359683 Btk Bruton tyrosine kinase gene DOID:14499 Fabry disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 1359683 Btk Bruton tyrosine kinase gene DOID:1556 arthus reaction treatment IMP D RGD:11040701|PMID:22228807 20160314 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:234 colon adenocarcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:colon (human) PMID:31402962|REF_RGD_ID:151347853 1359683 Btk Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia ISO RGD:1342660 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15142874 1359683 Btk Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia PMID:10352268 1359683 Btk Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1342660 D RGD:1600526|PMID:8162018 20070312 RGD DNA:insertions, point mutations 1359683 Btk Bruton tyrosine kinase gene DOID:288 endometriosis of uterus disease_progression ISO RGD:1551411 D RGD:124715471|PMID:31247078 20210325 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:3234 central nervous system lymphoma ameliorates ISO RGD:1342660 D RGD:124715478|PMID:28552327 20210325 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:32623229|REF_RGD_ID:151347854 1359683 Btk Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1342660 D RGD:151347848|PMID:32351880 20220204 RGD mRNA:decreased expression:lung (human) 1359683 Btk Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:31803536|REF_RGD_ID:151347849 1359683 Btk Bruton tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11809909|PMID:12405164|PMID:15661032|PMID:16862044|PMID:17576681|PMID:19419768|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:7627183|PMID:7849697|PMID:9536098|PMID:9545398 1359683 Btk Bruton tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:1551411 D RGD:11040700|PMID:8332901 20160314 RGD DNA:missense mutation:CDS:p.R28C (mouse) 1359683 Btk Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359683 Btk Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1342660 D RGD:124713554|PMID:28348046 20210322 RGD human cell in a mouse model 1359683 Btk Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1551411 D RGD:11040764|PMID:25662332 20160315 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma ameliorates ISO RGD:1342660 D RGD:124715474|PMID:30546948 20210325 RGD Human cell line in a mouse model 1359683 Btk Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD mRNA:increased expression:multiple (human) PMID:28474336|REF_RGD_ID:124713565 1359683 Btk Bruton tyrosine kinase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1342660 D RGD:151347847|PMID:31200752 20220204 RGD associated with lung adenocarcinoma;protein:increased expression:lung (human) 1359683 Btk Bruton tyrosine kinase gene DOID:9000371 influenza A ameliorates ISO RGD:1551411 D RGD:124713566|PMID:29516781 20210323 RGD Associated with Acute Lung Injury 1359683 Btk Bruton tyrosine kinase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:1551411 D RGD:124713567|PMID:15140955 20210323 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1551411 D RGD:124715470|PMID:30646846 20210325 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:25741868|PMID:28492532 1359683 Btk Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:1342660 D RGD:11040699|PMID:23045577 20160314 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9002395 Hypothermia exacerbates ISO RGD:1551411 D RGD:11533169|PMID:26581914 20210322 RGD Associated with Endotoxemia; with Itk knockout 1359683 Btk Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:11040701|PMID:22228807 20160314 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:151665122|PMID:32083858 20220311 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9004143 X-Linked Hypogammaglobulinemia ISO RGD:1342660 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked PMID:8758136 1359683 Btk Bruton tyrosine kinase gene DOID:9006549 Enterovirus Infections treatment ISO RGD:1551411 D RGD:124715472|PMID:10508272 20210325 RGD Associated with X-linked agammaglobulinemia 1359683 Btk Bruton tyrosine kinase gene DOID:9007278 Anaphylaxis treatment IMP D RGD:11040701|PMID:22228807 20160314 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1342660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1359683 Btk Bruton tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342660 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24869598|PMID:25082755|PMID:25189416|PMID:25741868|PMID:27199251|PMID:28049639|PMID:28212557|PMID:28418267|PMID:28492532|PMID:29496671|PMID:29875397|PMID:30018078 1359683 Btk Bruton tyrosine kinase gene DOID:9065 leishmaniasis susceptibility ISO RGD:1551411 D RGD:124715477|PMID:28783468 20210325 RGD 1359683 Btk Bruton tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342660 D RGD:151347850|PMID:31518438 20220204 RGD protein:increased expression:colorectum (human) 1359683 Btk Bruton tyrosine kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342660 D RGD:151347852|PMID:31238520 20220204 RGD protein:increased expression:colorectum (human) 1359683 Btk Bruton tyrosine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:nasopharynx (human) PMID:33096113|REF_RGD_ID:151347855 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350042 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350042 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350042 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0111754 Leber plus disease ISS RGD:1553854 D RGD:13592920 20210415 MouseDO 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1350042 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:12849 autistic disorder ISO RGD:1350042 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:630 genetic disease ISO RGD:1350042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:11554173 20220315 CTD CTD Direct Evidence: marker/mechanism 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:32516135 1359685 Prickle3 prickle planar cell polarity protein 3 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1350042 D RGD:7240710 20220309 OMIM 1359687 Fbxl6 F-box and leucine-rich repeat protein 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1359687 Fbxl6 F-box and leucine-rich repeat protein 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1359687 Fbxl6 F-box and leucine-rich repeat protein 6 gene DOID:4621 holoprosencephaly ISO RGD:1353759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1359687 Fbxl6 F-box and leucine-rich repeat protein 6 gene DOID:630 genetic disease ISO RGD:1353759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359688 Nipsnap3b nipsnap homolog 3B gene DOID:630 genetic disease ISO RGD:1352624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359689 Slc30a3 solute carrier family 30 member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1359689 Slc30a3 solute carrier family 30 member 3 gene DOID:630 genetic disease ISO RGD:1346114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359689 Slc30a3 solute carrier family 30 member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1346114 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Febrile seizures 1359690 Rnd3 Rho family GTPase 3 gene DOID:630 genetic disease ISO RGD:1351005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359690 Rnd3 Rho family GTPase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351005 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1359691 Rflnb refilin B gene DOID:13580 cholestasis ISO RGD:1601917 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1359692 Zfp799 zinc finger protein 799 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1359692 Zfp799 zinc finger protein 799 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1359692 Zfp799 zinc finger protein 799 gene DOID:0111254 glutaric acidemia I ISO RGD:1604764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1359692 Zfp799 zinc finger protein 799 gene DOID:3413 alpha-mannosidosis ISO RGD:1604764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1359692 Zfp799 zinc finger protein 799 gene DOID:630 genetic disease ISO RGD:1604764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:0050437 Danon disease ISO RGD:1344435 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344435 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:7240710 20170419 OMIM 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25612912|PMID:25741868|PMID:29144457|PMID:31793730|PMID:31880405 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:12849 autistic disorder ISO RGD:1344435 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:630 genetic disease ISO RGD:1344435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359693 Rnf113a1 ring finger protein 113A1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344435 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1359694 Rap1a RAP1A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1352228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359694 Rap1a RAP1A, member of RAS oncogene family gene DOID:9004912 Hyperoxaluria IEP D RGD:10040961|PMID:23091645 20150506 RGD mRNA:increased expression:kidney (rat) 1359694 Rap1a RAP1A, member of RAS oncogene family gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:10003160|PMID:20501665 20150505 RGD 1359696 Cldn18 claudin 18 gene DOID:11372 megacolon ISO RGD:1351425 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1359696 Cldn18 claudin 18 gene DOID:2841 asthma ISO RGD:1351425 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:27215490 1359696 Cldn18 claudin 18 gene DOID:630 genetic disease ISO RGD:1351425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359697 Oas2 2'-5' oligoadenylate synthetase 2 gene DOID:630 genetic disease ISO RGD:1348906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359697 Oas2 2'-5' oligoadenylate synthetase 2 gene DOID:9001488 Human Influenza ISO RGD:1348906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1359698 Rnf181 ring finger protein 181 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1602715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1359698 Rnf181 ring finger protein 181 gene DOID:630 genetic disease ISO RGD:1602715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359699 Trim42 tripartite motif-containing 42 gene DOID:630 genetic disease ISO RGD:1353293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359701 Krt32 keratin 32 gene DOID:4450 renal cell carcinoma ISO RGD:1313247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1359701 Krt32 keratin 32 gene DOID:630 genetic disease ISO RGD:1313247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359702 Slc25a30 solute carrier family 25, member 30 gene DOID:630 genetic disease ISO RGD:1606937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359702 Slc25a30 solute carrier family 25, member 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1359704 Ift74 intraflagellar transport 74 gene DOID:0050545 visceral heterotaxy ISS RGD:1623977 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1359704 Ift74 intraflagellar transport 74 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342560 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 1359704 Ift74 intraflagellar transport 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1342560 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359704 Ift74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:7240710 20190315 OMIM 1359704 Ift74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:17576681|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32144365|PMID:33531668|PMID:33748949|PMID:9536098 1359704 Ift74 intraflagellar transport 74 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098 1359704 Ift74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 1359704 Ift74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 58 PMID:25741868|PMID:33689014 1359704 Ift74 intraflagellar transport 74 gene DOID:10907 microcephaly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1359704 Ift74 intraflagellar transport 74 gene DOID:630 genetic disease ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760 1359704 Ift74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 1359704 Ift74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome 40 PMID:25741868|PMID:28492532|PMID:31690835|PMID:33531668|PMID:34539760 1359705 Mtfp1 mitochondrial fission process 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604816 D RGD:12880394|PMID:19492057 20170505 RGD mRNA:decreased expression:brain (mouse) 1359705 Mtfp1 mitochondrial fission process 1 gene DOID:630 genetic disease ISO RGD:1604816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359705 Mtfp1 mitochondrial fission process 1 gene DOID:769 neuroblastoma severity ISO RGD:1604816 D RGD:12880392|PMID:27765905 20170505 RGD mRNA:increased expression:neural tissue (human) 1359706 Eomes eomesodermin gene DOID:11054 urinary bladder cancer ISO RGD:1353316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1359706 Eomes eomesodermin gene DOID:2030 anxiety disorder ISO RGD:1353316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26415720 1359706 Eomes eomesodermin gene DOID:438 autoimmune disease of the nervous system ISO RGD:1353316 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 1359706 Eomes eomesodermin gene DOID:630 genetic disease ISO RGD:1353316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359706 Eomes eomesodermin gene DOID:9002928 Colonic Neoplasms ISO RGD:1353316 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27539959 1359706 Eomes eomesodermin gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1353316 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 1359707 Pfn4 profilin family, member 4 gene DOID:630 genetic disease ISO RGD:1347216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359708 Git2 GIT ArfGAP 2 gene DOID:630 genetic disease ISO RGD:1345420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1606240 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:0060041 autism spectrum disorder ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606240 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:1059 intellectual disability ISO RGD:1606240 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:1969 cerebral palsy ISO RGD:1606240 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:630 genetic disease ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:893 Wilson disease ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:7240710 20180111 OMIM 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:24183309|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26846091|PMID:26860721|PMID:26903602|PMID:27009121|PMID:28332073|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30889214|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:32488064|PMID:33084218|PMID:33258288|PMID:33482855|PMID:33967934|PMID:9536098 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:9006534 Nervous System Malformations ISO RGD:1606240 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:31130284|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 1359710 Rnaseh2b ribonuclease H2, subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1606240 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1359711 Clk2 CDC-like kinase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343354 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1359711 Clk2 CDC-like kinase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343354 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1359711 Clk2 CDC-like kinase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343354 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1359711 Clk2 CDC-like kinase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1359711 Clk2 CDC-like kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343354 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359711 Clk2 CDC-like kinase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343354 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1359711 Clk2 CDC-like kinase 2 gene DOID:630 genetic disease ISO RGD:1343354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359711 Clk2 CDC-like kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343354 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359712 Dusp13b dual specificity phosphatase 13B gene DOID:630 genetic disease ISO RGD:1344710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359712 Dusp13b dual specificity phosphatase 13B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1344710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 1359713 Rbm47 RNA binding motif protein 47 gene DOID:630 genetic disease ISO RGD:1642917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359713 Rbm47 RNA binding motif protein 47 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1642917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1359713 Rbm47 RNA binding motif protein 47 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1642917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1359715 Slc13a4 solute carrier family 13 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345589 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1359715 Slc13a4 solute carrier family 13 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345589 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1359715 Slc13a4 solute carrier family 13 member 4 gene DOID:5082 liver cirrhosis ISO RGD:1345589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1359715 Slc13a4 solute carrier family 13 member 4 gene DOID:630 genetic disease ISO RGD:1345589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359715 Slc13a4 solute carrier family 13 member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1359717 Ccdc8 coiled-coil domain containing 8 gene DOID:630 genetic disease ISO RGD:1351060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1359717 Ccdc8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:7240710 20140903 OMIM 1359717 Ccdc8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 3 PMID:21737058|PMID:25741868|PMID:28492532|PMID:28675896 1359718 Wdr45 WD repeat domain 45 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348509 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 1359718 Wdr45 WD repeat domain 45 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348509 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1359718 Wdr45 WD repeat domain 45 gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1348509 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism 1359718 Wdr45 WD repeat domain 45 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348509 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1359718 Wdr45 WD repeat domain 45 gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 PMID:25741868 1359718 Wdr45 WD repeat domain 45 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1359718 Wdr45 WD repeat domain 45 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1348509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23435086 1359718 Wdr45 WD repeat domain 45 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1348509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28711740 1359718 Wdr45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:7240710 20140911 OMIM 1359718 Wdr45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:16199547|PMID:17576681|PMID:22892189|PMID:23176820|PMID:23435086|PMID:23687123|PMID:24368176|PMID:24621584|PMID:24896178|PMID:25263061|PMID:25326635|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27159028|PMID:27652284|PMID:27681470|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28711740|PMID:28878728|PMID:28932395|PMID:29082105|PMID:29171013|PMID:29389947|PMID:29445477|PMID:29681108|PMID:29981852|PMID:30542205|PMID:30612247|PMID:30713893|PMID:31332960|PMID:31487502|PMID:31665836|PMID:32307390|PMID:32382396|PMID:32387008|PMID:34906502|PMID:9536098 1359718 Wdr45 WD repeat domain 45 gene DOID:0111443 optic atrophy 2 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 2 1359718 Wdr45 WD repeat domain 45 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1359718 Wdr45 WD repeat domain 45 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1359718 Wdr45 WD repeat domain 45 gene DOID:1059 intellectual disability ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23687123|PMID:25533962|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32387008 1359718 Wdr45 WD repeat domain 45 gene DOID:12849 autistic disorder ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311|PMID:32581362 1359718 Wdr45 WD repeat domain 45 gene DOID:1826 epilepsy ISO RGD:1348509 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1359718 Wdr45 WD repeat domain 45 gene DOID:543 dystonia ISO RGD:1348509 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1359718 Wdr45 WD repeat domain 45 gene DOID:630 genetic disease ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32307390|PMID:32382396 1359718 Wdr45 WD repeat domain 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348509 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 1359718 Wdr45 WD repeat domain 45 gene DOID:9005923 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked PMID:23176820|PMID:24368176|PMID:24621584|PMID:25326635|PMID:25741868|PMID:25744623|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947 1359718 Wdr45 WD repeat domain 45 gene DOID:9008086 Developmental Disabilities ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741886|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32382396 1359718 Wdr45 WD repeat domain 45 gene DOID:9008582 Developmental Disease ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1359718 Wdr45 WD repeat domain 45 gene DOID:9775 diastolic heart failure ISO RGD:1348509 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1359719 Vom1r21 vomeronasal 1 receptor 21 gene DOID:630 genetic disease ISO RGD:1347041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359721 Btrc beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:0090020 split hand-foot malformation ISO RGD:1347748 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 1359721 Btrc beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1347748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359722 Tob2 transducer of ERBB2, 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1359722 Tob2 transducer of ERBB2, 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1342508 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1359722 Tob2 transducer of ERBB2, 2 gene DOID:12306 vitiligo ISO RGD:1342508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 1359722 Tob2 transducer of ERBB2, 2 gene DOID:630 genetic disease ISO RGD:1342508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359723 Rnase11 ribonuclease A family member 11 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1602837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1359723 Rnase11 ribonuclease A family member 11 gene DOID:630 genetic disease ISO RGD:1602837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359725 Golga7 golgin A7 gene DOID:630 genetic disease ISO RGD:1351077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359726 Yod1 YOD1 deubiquitinase gene DOID:0050589 inflammatory bowel disease ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1359726 Yod1 YOD1 deubiquitinase gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1604806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1359726 Yod1 YOD1 deubiquitinase gene DOID:12849 autistic disorder ISO RGD:1604806 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359726 Yod1 YOD1 deubiquitinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604806 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1359726 Yod1 YOD1 deubiquitinase gene DOID:630 genetic disease ISO RGD:1604806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359726 Yod1 YOD1 deubiquitinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1359726 Yod1 YOD1 deubiquitinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604806 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1359727 Cept1 choline/ethanolamine phosphotransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345389 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1359727 Cept1 choline/ethanolamine phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1345389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359731 Alkbh3 alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase gene DOID:1059 intellectual disability ISO RGD:1606677 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1359731 Alkbh3 alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1606677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:0080205 CAKUT ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:14679 VACTERL association ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:25741868 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1346837 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:1682 congenital heart disease ISO RGD:1346837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:1826 epilepsy ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:21932317|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25741868|PMID:25805166|PMID:27257017|PMID:28492532|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:3459 breast carcinoma ISO RGD:1346837 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:630 genetic disease ISO RGD:1346837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:8398 osteoarthritis ISO RGD:1346837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359733 Trap1 TNF receptor-associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1346837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1359735 Akap3 A-kinase anchoring protein 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1348905 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1359735 Akap3 A-kinase anchoring protein 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1359735 Akap3 A-kinase anchoring protein 3 gene DOID:630 genetic disease ISO RGD:1348905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359735 Akap3 A-kinase anchoring protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348905 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1359735 Akap3 A-kinase anchoring protein 3 gene DOID:9008398 Spermatogenic Failure 82 ISO RGD:1348905 D RGD:7240710 20230505 OMIM 1359736 Tmem98 transmembrane protein 98 gene DOID:630 genetic disease ISO RGD:1607062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1359736 Tmem98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:7240710 20170329 OMIM 1359736 Tmem98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 4 PMID:24852644|PMID:26392740 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9005274 Polyuria IAGP D RGD:2314654|PMID:10919858 20201210 RGD 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9409 diabetes insipidus IAGP D RGD:150429658|PMID:6717565 20210916 RGD DNA:deletion:cds:exon B (rat) 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9409 diabetes insipidus IAGP D RGD:2314654|PMID:10919858 20201210 RGD 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9409 diabetes insipidus IAGP D RGD:2314661|PMID:13995944 20210225 RGD 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9409 diabetes insipidus IAGP D RGD:632128|PMID:5692127 20210225 RGD 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9409 diabetes insipidus treatment IMP D RGD:150429657|PMID:9396613 20210916 RGD 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:2314661|PMID:13995944 20210225 RGD 13627261 Avpdi arginine vasopressin; diabetes insipidus mutant gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:632128|PMID:5692127 20210225 RGD 13628730 SD-Il2rgem1Ang strain DOID:9004654 Immune Deficiency Disease IMP D RGD:13628403|PMID:29688994 20180620 RGD 13628731 Il2rgem1Ang interleukin 2 receptor subunit gamma;TALEN induced mutant1, Ang gene DOID:9004654 Immune Deficiency Disease IMP D RGD:13628403|PMID:29688994 20180620 RGD 13703119 SD-Lamp2em1 strain DOID:0050437 Danon disease MODEL: induced IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703119 SD-Lamp2em1 strain DOID:11984 hypertrophic cardiomyopathy IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703119 SD-Lamp2em1 strain DOID:13580 cholestasis MODEL: induced IMP D RGD:13703118|PMID:28124283 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703119 SD-Lamp2em1 strain DOID:2475 chronic conjunctivitis IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703121 Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 gene DOID:0050437 Danon disease IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703121 Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 gene DOID:11984 hypertrophic cardiomyopathy IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703121 Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 gene DOID:13580 cholestasis IMP D RGD:13703118|PMID:28124283 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703121 Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 gene DOID:1561 cognitive disorder IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13703121 Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 gene DOID:2475 chronic conjunctivitis IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 13782371 SD-Cacna1f csnb congenital stationary night blindness rat strain DOID:0050534 congenital stationary night blindness IAGP D RGD:13782370|PMID:18246026 20180910 RGD DNA:mutation:cds: c.2941C>T (rat) 13782372 Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant gene DOID:0050534 congenital stationary night blindness IAGP D RGD:13782370|PMID:18246026 20180910 RGD DNA:mutation:cds: c.2941C>T (rat) 13792606 SD-Cd59em1Ask-/- SD-Cd59em1-/Cd59em1- strain DOID:8869 neuromyelitis optica severity IMP D RGD:13792592|PMID:28212662 20180924 RGD 13792701 SD-Trpv1em1Sage-/- strain DOID:5844 myocardial infarction IMP D RGD:13792689|PMID:27671317 20180921 RGD 13792702 Trpv1em1Sage transient receptor potential cation channel, subfamily V, member 1; ZFN induced mutant 1, Sage gene DOID:5844 myocardial infarction IMP D RGD:13792689|PMID:27671317 20180921 RGD 13792720 Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask gene DOID:8869 neuromyelitis optica severity IMP D RGD:13792592|PMID:28212662 20180924 RGD 13800556 F344-Hsd11b2em1Jmul-/- F344-Hsd11b2em1Jmul-/Hsd11b2em1Jmul- strain DOID:10763 hypertension IMP D RGD:13800514|PMID:26077568 20220131 RGD 13800560 Hsd11b2em1Jmul hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul gene DOID:10763 hypertension IMP D RGD:13800514|PMID:26077568 20220203 RGD 13800746 SS-F8em1Mcwi strain DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD 13800746 SS-F8em1Mcwi strain DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD 13800747 F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi gene DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211028 RGD 13800747 F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi gene DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211028 RGD 13825199 WI-Mc4rm1Hubr strain DOID:9007692 Insulin Resistance IMP D RGD:13825242|PMID:24400148 20210609 RGD DNA:nonsense mutation:cds:p.K314X 13825199 WI-Mc4rm1Hubr strain DOID:9970 obesity MODEL: spontaneous IMP D RGD:13825242|PMID:24400148 20210609 RGD 13825199 WI-Mc4rm1Hubr strain DOID:9970 obesity MODEL: spontaneous IMP D RGD:6478803|PMID:21527895 20181129 RGD 13825200 Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr gene DOID:9007692 Insulin Resistance IMP D RGD:13825242|PMID:24400148 20210609 RGD DNA:nonsense mutation:cds:p.K314X 13825200 Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr gene DOID:9970 obesity IMP D RGD:13825242|PMID:24400148 20210609 RGD DNA:nonsense mutation:cds:p.K314X 13825200 Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr gene DOID:9970 obesity IMP D RGD:6478803|PMID:21527895 20181129 RGD DNA:nonsense mutation:cds:p.K314X 13830868 Dock8m1Ztm dedicator of cytokinesis 8;mutant 1, Ztm gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:11532657|PMID:26363782 20181206 RGD 13838727 Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo gene DOID:14227 azoospermia IMP D RGD:11085488|PMID:25934999 20190109 RGD 13838727 Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo gene DOID:9007692 Insulin Resistance IMP D RGD:11085488|PMID:25934999 20190109 RGD 14390067 WI-Slc6a4m1Hubr-/- strain DOID:1596 depressive disorder IMP D RGD:4889509|PMID:18295409 20210521 RGD 14390067 WI-Slc6a4m1Hubr-/- strain DOID:2030 anxiety disorder IMP D RGD:4889509|PMID:18295409 20210521 RGD 14390068 Slc6a4m1Hubr solute carrier family 6 member 4; ZFN induced mutant1, Hubr gene DOID:1596 depressive disorder IMP D RGD:4889509|PMID:18295409 20210527 RGD 14390068 Slc6a4m1Hubr solute carrier family 6 member 4; ZFN induced mutant1, Hubr gene DOID:2030 anxiety disorder IMP D RGD:4889509|PMID:18295409 20210527 RGD 14392814 Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage gene DOID:0111862 congenital bilateral absence of vas deferens IMP D RGD:11566051|PMID:24608905 20220120 RGD 14392814 Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage gene DOID:1485 cystic fibrosis IMP D RGD:11566051|PMID:24608905 20220120 RGD 14392815 SD-Cftrem1Sage-/- strain DOID:0111862 congenital bilateral absence of vas deferens IMP D RGD:11566051|PMID:24608905 20220118 RGD 14392815 SD-Cftrem1Sage-/- strain DOID:1485 cystic fibrosis IMP D RGD:11566051|PMID:24608905 20220118 RGD 14398588 Mir340-1 microRNA 340-1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352110 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 14398588 Mir340-1 microRNA 340-1 gene DOID:1909 melanoma ISO RGD:1352110 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:25043973 14398588 Mir340-1 microRNA 340-1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352110 D RGD:9068941 20211224 RGD miRNA:decreased expression:liver PMID:27998770|REF_RGD_ID:18936991 14398588 Mir340-1 microRNA 340-1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352110 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 14398588 Mir340-1 microRNA 340-1 gene DOID:9002221 Hyperplasia ISO RGD:1352110 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 14398596 Mir450b-1 microRNA mir-450b-1 gene DOID:12849 autistic disorder ISO RGD:1603436 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 14398765 EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant gene DOID:14793 hypohidrotic ectodermal dysplasia IAGP D RGD:14398762|PMID:22013926 20201210 RGD 14398825 SD-Fahem15Dlli-/- strain DOID:0050726 tyrosinemia type I MODEL IMP D RGD:14398823|PMID:27510266 20190502 RGD by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water. 14398825 SD-Fahem15Dlli-/- strain DOID:5082 liver cirrhosis IMP D RGD:14398823|PMID:27510266 20190502 RGD after NTBC withdrawal in the drinking water 14398826 Fahem15Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli gene DOID:0050726 tyrosinemia type I IMP D RGD:14398823|PMID:27510266 20201210 RGD by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water. 14398826 Fahem15Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli gene DOID:5082 liver cirrhosis IMP D RGD:14398823|PMID:27510266 20190502 RGD after NTBC withdrawal in the drinking water 14398828 SD-Fahem10Dlli-/- strain DOID:0050726 tyrosinemia type I MODEL IMP D RGD:14398827|PMID:29507093 20190502 RGD by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water 14398829 Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli gene DOID:0050726 tyrosinemia type I IMP D RGD:14398827|PMID:29507093 20190502 RGD by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water 14695003 SD-L1camem2Jgn strain DOID:9006382 X-Linked Hydrocephalus MODEL: spontaneous IMP D RGD:14695001|PMID:30738385 20190725 RGD 14695085 SD-Trim63em1(hiLuc)/Rrrc strain DOID:9884 muscular dystrophy MODEL: induced IMP D RGD:14695084|PMID:24710205 20190725 RGD dexamethaso-induced and hindlimb denervation 14696719 F344-Trpc4Tn(sb-T2/Bart3)2.192Mcwi+/+ strain DOID:9008820 Visceral Pain IMP D RGD:13825245|PMID:24388923 20190719 RGD 14696720 F344-Trpc4Tn(sb-T2/Bart3)2.192Mcwi-/- strain DOID:9008820 Visceral Pain IMP D RGD:13825245|PMID:24388923 20190719 RGD 14696721 F344-Trpc4Tn(sb-T2/Bart3)2.192Mcwi-/+ strain DOID:9008820 Visceral Pain IMP D RGD:13825245|PMID:24388923 20190719 RGD 14696788 L1camem2Jgn L1 cell adhesion molecule;CRISPR/Cas9 induced mutant2,JGN gene DOID:9006382 X-Linked Hydrocephalus IMP D RGD:14695001|PMID:30738385 20201210 RGD 14696789 Trim63em1(hiLuc) tripartite motif containing 63; ZFN targeted mutation 1 gene DOID:9884 muscular dystrophy IMP D RGD:14695084|PMID:24710205 20201210 RGD dexamethaso-induced and hindlimb denervation 149735330 Kcnn2Trdk potassium calcium-activated channel subfamily N member 2; Trdk mutant gene DOID:4990 essential tremor IMP D RGD:38508907|PMID:28917524 20210722 RGD DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) 149735334 SD-Wfs1em1Ptsn strain DOID:10603 glucose intolerance treatment IMP XCO:0000907 D RGD:150519890|PMID:29976929 20211013 RGD 149735334 SD-Wfs1em1Ptsn strain DOID:83 cataract onset IMP D RGD:149735331|PMID:28860598 20210723 RGD 149735334 SD-Wfs1em1Ptsn strain DOID:9351 diabetes mellitus onset IMP D RGD:149735331|PMID:28860598 20210723 RGD 149735335 Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 gene DOID:10603 glucose intolerance treatment IMP XCO:0000907 D RGD:150519890|PMID:29976929 20211021 RGD 149735335 Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 gene DOID:83 cataract onset IMP D RGD:149735331|PMID:28860598 20210729 RGD 149735335 Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 gene DOID:9351 diabetes mellitus onset IMP D RGD:149735331|PMID:28860598 20210729 RGD 149735565 Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta gene DOID:0060728 NGLY1-deficiency IMP D RGD:39457703|PMID:32259258 20210729 RGD compared to Wild type 14975305 F344-Bmpr2em1Sage+/- strain DOID:6432 pulmonary hypertension MODEL: induced IMP D RGD:14975304|PMID:31462075 20191010 RGD induced by human ad-ALOX5 14981587 Bmpr2em1Sage bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage gene DOID:6432 pulmonary hypertension IMP D RGD:14975304|PMID:31462075 20201210 RGD induced by human ad-ALOX5 14981588 F344-Bmpr2em2Sage+/- strain DOID:6432 pulmonary hypertension MODEL: induced IMP D RGD:14975304|PMID:31462075 20191010 RGD induced by human ad-ALOX5 14981589 Bmpr2em2Sage bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage gene DOID:6432 pulmonary hypertension IMP D RGD:14975304|PMID:31462075 20201210 RGD induced by human ad-ALOX5 14995941 Wpk Wistar polycystic kidney rat strain DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:1300514|PMID:11095650 20191118 RGD 14995941 Wpk Wistar polycystic kidney rat strain DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:14995942|PMID:30705305 20191111 RGD 14995941 Wpk Wistar polycystic kidney rat strain DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:15014788|PMID:15052665 20191115 RGD 14995941 Wpk Wistar polycystic kidney rat strain DOID:0110861 autosomal recessive polycystic kidney disease MODEL: control IAGP D RGD:1300514|PMID:11095650 20191118 RGD 14995941 Wpk Wistar polycystic kidney rat strain DOID:10908 hydrocephalus IAGP D RGD:14995942|PMID:30705305 20191111 RGD 14995941 Wpk Wistar polycystic kidney rat strain DOID:10908 hydrocephalus IAGP D RGD:15014788|PMID:15052665 20191115 RGD 14995941 Wpk Wistar polycystic kidney rat strain DOID:576 proteinuria MODEL: control IAGP D RGD:1300514|PMID:11095650 20191118 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:0070117 Meckel syndrome 3 IAGP D RGD:11535082|PMID:16415887 20210225 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:1300514|PMID:11095650 20201210 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:14995942|PMID:30705305 20191111 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:15014788|PMID:15052665 20201210 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:10908 hydrocephalus IAGP D RGD:14995942|PMID:30705305 20191111 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:10908 hydrocephalus IAGP D RGD:15014788|PMID:15052665 20201210 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:1573 communicating hydrocephalus IAGP D RGD:14995942|PMID:30705305 20200130 RGD 14995943 Tmem67wpk transmembrane protein 67; wpk mutant gene DOID:576 proteinuria IAGP D RGD:1300514|PMID:11095650 20201210 RGD compared to RGD:14995941 15004087 Ighm immunoglobulin heavy constant epsilon gene DOID:2115 B cell deficiency IMP D RGD:150523760|PMID:21038471 20211118 RGD 15006684 Mir486 microRNA 486 gene DOID:0060041 autism spectrum disorder ISO RGD:1604866 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 15006684 Mir486 microRNA 486 gene DOID:11294 arteriovenous malformation ISO RGD:1604866 D RGD:155582214|PMID:23051042 20221013 RGD miRNA:increased expression:blood plasma (human) 15006684 Mir486 microRNA 486 gene DOID:3021 acute kidney failure ISO RGD:1608179 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:30682439|PMID:35279909 15008789 AABR07058254.1 HERV-H LTR-associating 1 gene DOID:630 genetic disease ISO RGD:1353531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15017093 Wpk +/- Wpk heterozygous rat strain DOID:0070117 Meckel syndrome 3 IAGP D RGD:11535082|PMID:16415887 20210224 RGD 15017093 Wpk +/- Wpk heterozygous rat strain DOID:10908 hydrocephalus IAGP D RGD:14995942|PMID:30705305 20200130 RGD 15017094 Wpk -/- Wpk homozygous rat strain DOID:0110861 autosomal recessive polycystic kidney disease MODEL: spontaneous IAGP D RGD:1300514|PMID:11095650 20191118 RGD compared to RGD:14995941 15017094 Wpk -/- Wpk homozygous rat strain DOID:1573 communicating hydrocephalus IAGP D RGD:14995942|PMID:30705305 20200130 RGD 15017094 Wpk -/- Wpk homozygous rat strain DOID:576 proteinuria MODEL: spontaneous IAGP D RGD:1300514|PMID:11095650 20191118 RGD compared to RGD:14995941 150340622 Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant gene DOID:3305 teratocarcinoma IAGP D RGD:40924659|PMID:22655094 20210826 RGD compared to WKY 150344952 Zfp790 zinc finger protein 420-like gene DOID:630 genetic disease ISO RGD:1603835 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15036806 WKAH/Tj Wistar-King A, WKA strain DOID:686 liver carcinoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD 15039305 Mir347 microRNA mir-347 gene DOID:0060071 pre-malignant neoplasm EXP D RGD:11554173 20191203 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 15039305 Mir347 microRNA mir-347 gene DOID:9001586 Experimental Liver Neoplasms EXP D RGD:11554173 20191203 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 15039312 Mir352 microRNA mir-352 gene DOID:9001586 Experimental Liver Neoplasms EXP D RGD:11554173 20191203 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 150404267 LEW-Myo15aci2/Ztm strain DOID:1432 blindness induces IAGP XCO:0000181 D RGD:150429616|PMID:21479269 20210909 RGD compared to LEW/Ztm 150404269 Myo15aci2 myosin XVA; ci2 mutant gene DOID:1432 blindness induces IAGP XCO:0000181 D RGD:150429616|PMID:21479269 20210916 RGD compared to LEW/Ztm 150429606 MWF.SHR-(D6Rat1-D6Rat81)/Rkb strain DOID:9001542 Albuminuria IAGP D RGD:15023481|PMID:30900988 20210908 RGD compared to MWF.SHR-(D6Rat1-D6Mgh4) 150429632 Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo gene DOID:4990 essential tremor IGI RGD:11564348 D RGD:150429620|PMID:32507787 20220225 RGD 150429634 F344 -Aspaem34Kyo Hcn1em1Kyo strain DOID:4990 essential tremor treatment IAGP D RGD:150429620|PMID:32507787 20220225 RGD 150429814 SD-Gnalem1Hpng+/- strain DOID:543 dystonia IMP D RGD:150429833|PMID:31678405 20211004 RGD compared to wildtype controls 150429816 Gnalem1Hpng G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng gene DOID:543 dystonia IMP D RGD:150429833|PMID:31678405 20211007 RGD compared to wildtype controls 150429817 SD-Gnalem1Hpng-/- strain DOID:543 dystonia IMP D RGD:150429833|PMID:31678405 20211004 RGD compared to wildtype controls and heterozygotes 150429828 SD-Tspoem1Vpl strain DOID:14502 cholesterol ester storage disease IMP D RGD:150429771|PMID:29074640 20211005 RGD 150429830 SD-Tspoem2Vpl strain DOID:14502 cholesterol ester storage disease IMP D RGD:150429771|PMID:29074640 20211005 RGD 150429831 Tspoem1Vpl translocator protein; ZFN induced mutant1, Vpl gene DOID:14502 cholesterol ester storage disease IMP D RGD:150429771|PMID:29074640 20211007 RGD 150429832 Tspoem2Vpl translocator protein; ZFN induced mutant2, Vpl gene DOID:14502 cholesterol ester storage disease IMP D RGD:150429771|PMID:29074640 20211007 RGD 150429960 WIC-Wwoxlde/Fta strain DOID:1826 epilepsy IAGP D RGD:150429974|PMID:18676360 20211008 RGD compared to wild type and heterozygotes 150429960 WIC-Wwoxlde/Fta strain DOID:1826 epilepsy IAGP D RGD:150429978|PMID:17803050 20211008 RGD compared to wild type and heterozygotes 150429960 WIC-Wwoxlde/Fta strain DOID:1826 epilepsy IAGP D RGD:150429979|PMID:19500159 20211008 RGD compared to wild type and heterozygotes 150429960 WIC-Wwoxlde/Fta strain DOID:9002563 Gait Ataxia IAGP D RGD:150429978|PMID:17803050 20211008 RGD compared to wild type and heterozygotes 150429960 WIC-Wwoxlde/Fta strain DOID:9007661 Dwarfism IAGP D RGD:150429974|PMID:18676360 20211008 RGD compared to wild type and heterozygotes 150429960 WIC-Wwoxlde/Fta strain DOID:9007661 Dwarfism IAGP D RGD:150429978|PMID:17803050 20211008 RGD compared to wild type and heterozygotes 150429960 WIC-Wwoxlde/Fta strain DOID:9007661 Dwarfism IAGP D RGD:150429979|PMID:19500159 20211008 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:1826 epilepsy IAGP D RGD:150429974|PMID:18676360 20211014 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:1826 epilepsy IAGP D RGD:150429978|PMID:17803050 20211014 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:1826 epilepsy IAGP D RGD:150429979|PMID:19500159 20211014 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:9002563 Gait Ataxia IAGP D RGD:150429978|PMID:17803050 20211014 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:9007661 Dwarfism IAGP D RGD:150429974|PMID:18676360 20211014 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:9007661 Dwarfism IAGP D RGD:150429978|PMID:17803050 20211014 RGD compared to wild type and heterozygotes 150429961 Wwoxlde WW domain-containing oxidoreductase; lde mutant gene DOID:9007661 Dwarfism IAGP D RGD:150429979|PMID:19500159 20211014 RGD compared to wild type and heterozygotes 15045607 SD-Tg(Prnp-Prnp)2919 strain DOID:5434 scrapie induced IMP XCO:0000655 D RGD:15045596|PMID:29157304 20191218 RGD 15045608 SD-Tg(Prnp-Prnp)2922 strain DOID:5434 scrapie induced IMP XCO:0000655 D RGD:15045596|PMID:29157304 20191218 RGD 150519901 F344-Prkar1bem2Tua strain DOID:9000495 Tremor IMP D RGD:150519900|PMID:33479380 20211018 RGD 150519903 Prkar1bem2Tua protein kinase cAMP-dependent type I regulatory subunit beta; CRISPR/Cas9 induced mutant 2, Tua gene DOID:9000495 Tremor IMP D RGD:150519900|PMID:33479380 20211021 RGD 150520049 WBN-Ht/Kob strain DOID:2723 dermatitis IAGP D RGD:150520053|PMID:16858425 20211025 RGD compared to wild type 150520049 WBN-Ht/Kob strain DOID:2723 dermatitis IAGP D RGD:150520054|PMID:10889953 20211025 RGD compared to wild type 150520049 WBN-Ht/Kob strain DOID:2723 dermatitis IAGP D RGD:150520055|PMID:16365525 20211025 RGD compared to wild type 150520049 WBN-Ht/Kob strain DOID:987 alopecia IAGP D RGD:150520053|PMID:16858425 20211025 RGD compared to wild type 150520049 WBN-Ht/Kob strain DOID:987 alopecia IAGP D RGD:150520054|PMID:10889953 20211025 RGD compared to wild type 150520185 SD-Ldlrem1Dlli strain DOID:10230 aortic atherosclerosis IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520185 SD-Ldlrem1Dlli strain DOID:1168 familial hyperlipidemia IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520185 SD-Ldlrem1Dlli strain DOID:9452 fatty liver disease IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520186 SD-Apoeem1Dlli strain DOID:10230 aortic atherosclerosis IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520186 SD-Apoeem1Dlli strain DOID:1168 familial hyperlipidemia IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520186 SD-Apoeem1Dlli strain DOID:9452 fatty liver disease IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520187 LE-Apoeem1DlliLdlrem1Ldlr strain DOID:10230 aortic atherosclerosis IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520187 LE-Apoeem1DlliLdlrem1Ldlr strain DOID:1168 familial hyperlipidemia IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520187 LE-Apoeem1DlliLdlrem1Ldlr strain DOID:9452 fatty liver disease IMP D RGD:13703129|PMID:29459263 20211105 RGD 150520189 SD-Apoeem1Ejt strain DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211108 RGD 150520190 Apoeem1Ejt apolipoprotein E; TALEN induced mutant 1, Ejt gene DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211111 RGD 150520193 Ldlrem1Dlli low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli gene DOID:10230 aortic atherosclerosis IMP D RGD:13703129|PMID:29459263 20211111 RGD 150520193 Ldlrem1Dlli low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli gene DOID:1168 familial hyperlipidemia IMP D RGD:13703129|PMID:29459263 20211111 RGD 150520193 Ldlrem1Dlli low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli gene DOID:9452 fatty liver disease IMP D RGD:13703129|PMID:29459263 20211111 RGD 150520220 SD-Ccdc39em1Jgn strain DOID:10908 hydrocephalus IMP D RGD:150521527|PMID:31771992 20211109 RGD 150520220 SD-Ccdc39em1Jgn strain DOID:9009131 Ventriculomegaly IMP D RGD:150521527|PMID:31771992 20211109 RGD 150520221 SD-Slco1b2em1Myliu strain DOID:9005094 Hereditary Hyperbilirubinemia IMP D RGD:150521535|PMID:32528832 20211109 RGD 150521524 Slco1b2em1Myliu solute carrier organic anion transporter family member 1B2; CRISPR/Case9 induced mutant 1, Myliu gene DOID:9005094 Hereditary Hyperbilirubinemia IMP D RGD:150521535|PMID:32528832 20211111 RGD 150521525 Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn gene DOID:10908 hydrocephalus IMP D RGD:150521527|PMID:31771992 20211111 RGD 150521525 Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn gene DOID:9009131 Ventriculomegaly IMP D RGD:150521527|PMID:31771992 20211111 RGD 150521538 SD-Uoxem1Cya strain DOID:1920 hyperuricemia IMP D RGD:150521544|PMID:32368418 20211109 RGD 150521540 Uoxem1Cya urate oxidase; CRISPR/Cas9 induced mutant1, Cya gene DOID:1920 hyperuricemia IMP D RGD:150521544|PMID:32368418 20211111 RGD 150521554 Cntrobhd centrobin, centriole duplication and spindle assembly protein; hypodacty mutant gene DOID:0112311 male infertility due to acephalic spermatozoa IAGP D RGD:150521555|PMID:19710508 20211110 RGD DNA:insertion:intron 10 (rat) 150521554 Cntrobhd centrobin, centriole duplication and spindle assembly protein; hypodacty mutant gene DOID:12336 male infertility IGI RGD:727894 D RGD:150521555|PMID:19710508 20211110 RGD 150521599 SD-Tshrem1Mlit strain DOID:0050328 congenital hypothyroidism IMP D RGD:150521601|PMID:29507327 20211111 RGD 150521599 SD-Tshrem1Mlit strain DOID:9000591 Congenital Nongoitrous Hypothyroidism treatment IMP D RGD:150521601|PMID:29507327 20211111 RGD 150521599 SD-Tshrem1Mlit strain DOID:9007661 Dwarfism IMP D RGD:150521601|PMID:29507327 20211111 RGD 150521600 Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit gene DOID:0050328 congenital hypothyroidism IMP D RGD:150521601|PMID:29507327 20211118 RGD 150521600 Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit gene DOID:9000591 Congenital Nongoitrous Hypothyroidism treatment IMP D RGD:150521601|PMID:29507327 20211118 RGD 150521600 Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit gene DOID:9007661 Dwarfism IMP D RGD:150521601|PMID:29507327 20211118 RGD 150521602 OFA(SD)-Dsg4hr/Crl strain DOID:4535 hypotrichosis IMP D RGD:150521560|PMID:15606503 20211111 RGD 150521603 Dsg4hr desmoglein 4; hairless mutant gene DOID:4535 hypotrichosis IMP D RGD:150521560|PMID:15606503 20211118 RGD 150523755 SD-Ighmem1Ang strain DOID:2115 B cell deficiency IMP D RGD:150523760|PMID:21038471 20211118 RGD 150523756 Ighmem1Ang immunoglobulin heavy constant mu; ZFN induced mutant1, Ang gene DOID:2115 B cell deficiency IMP D RGD:150523760|PMID:21038471 20211125 RGD 150523757 SD-Ighmem2Ang strain DOID:2115 B cell deficiency IMP D RGD:150523760|PMID:21038471 20211118 RGD 150523758 Ighmem2Ang immunoglobulin heavy constant mu; ZFN induced mutant2, Ang gene DOID:2115 B cell deficiency IMP D RGD:150523760|PMID:21038471 20211125 RGD 151232284 Prkdcem1Sage protein kinase, DNA-activated, catalytic subunit; ZFN induced mutant 1, Sage gene DOID:9003676 Brain Hypoxia-Ischemia treatment IMP D RGD:39938998|PMID:30485360 20220120 RGD 151347605 SD-Ddah1em1Ywxu strain DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP XCO:0000642 D RGD:151347602|PMID:31402164 20220128 RGD compared to wild type 151347606 Ddah1em1Ywxu dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP XCO:0000642 D RGD:151347602|PMID:31402164 20220203 RGD compared to wild type 151347865 Gper1em1Bj G protein-coupled estrogen receptor 1; CRISPR/Cas 9 induced mutant 1, Bj gene DOID:9007204 Dysbiosis ameliorates IMP D RGD:39939000|PMID:30354811 20220210 RGD 151356741 SD-Tg(Alb-TAg)Mlcr strain DOID:3213 demyelinating disease sexual dimorphism IMP D RGD:151356742|PMID:8053496 20220211 RGD 151356741 SD-Tg(Alb-TAg)Mlcr strain DOID:684 hepatocellular carcinoma IMP D RGD:151356742|PMID:8053496 20220211 RGD 15203474 Haus6 family with sequence similarity 29, member A gene DOID:630 genetic disease ISO RGD:1320176 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 15203474 Haus6 family with sequence similarity 29, member A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320176 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 15203474 Haus6 family with sequence similarity 29, member A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320176 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 152995992 CVCL_B7TS C6rho0 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C64069 152998155 CVCL_C0DS THC-253.1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60416 152998157 CVCL_C0DR THC-252.2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60416 152998767 CVCL_C0PY PC12 6c cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998768 CVCL_C0PX PC12-FR cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998770 CVCL_C0PZ PC12 cA4 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998771 CVCL_C0PQ PC12-1 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998774 CVCL_C0PP PC12.4 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998775 CVCL_C0PS PC12-16A cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998777 CVCL_C0PR PC12-15 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998780 CVCL_C0PU PC12-21 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998782 CVCL_C0PT PC12-19 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998783 CVCL_C0PW PC12-27 c7 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998786 CVCL_C0PV PC12-27 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998793 CVCL_C0Q0 PC-DR-LUC cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C121568 152998795 CVCL_C0PA AK-5 clone BC-8 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60419 152998796 CVCL_C0PC AK-5 clone EC-2 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60419 152998797 CVCL_C0PB AK-5 clone BE-5 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60419 152998799 CVCL_C0PD AK-5 clone FB-11 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60419 152998863 CVCL_C0P9 AK-5 clone BC-7 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60419 152998864 CVCL_C0P8 AK-5 cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20220629 CELLOSAURUS NCI:C60419 1549692 Vrk3 VRK serine/threonine kinase 3 gene DOID:0060041 autism spectrum disorder ISS RGD:1558006 D RGD:13592920 20180518 MouseDO 1549692 Vrk3 VRK serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1350616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549697 Pcdhb19 protocadherin beta 19 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1350553 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1549697 Pcdhb19 protocadherin beta 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1549697 Pcdhb19 protocadherin beta 19 gene DOID:630 genetic disease ISO RGD:1350553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549697 Pcdhb19 protocadherin beta 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350553 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1549697 Pcdhb19 protocadherin beta 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1549698 Dmac2 distal membrane arm assembly component 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1549698 Dmac2 distal membrane arm assembly component 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1549698 Dmac2 distal membrane arm assembly component 2 gene DOID:2340 craniosynostosis ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1549698 Dmac2 distal membrane arm assembly component 2 gene DOID:630 genetic disease ISO RGD:1605674 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549698 Dmac2 distal membrane arm assembly component 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1549698 Dmac2 distal membrane arm assembly component 2 gene DOID:9269 maple syrup urine disease ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1549700 Mturn maturin, neural progenitor differentiation regulator homolog gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1549700 Mturn maturin, neural progenitor differentiation regulator homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603878 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1549700 Mturn maturin, neural progenitor differentiation regulator homolog gene DOID:630 genetic disease ISO RGD:1603878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549702 Npl N-acetylneuraminate pyruvate lyase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1549702 Npl N-acetylneuraminate pyruvate lyase gene DOID:13580 cholestasis ISO RGD:1348386 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1549702 Npl N-acetylneuraminate pyruvate lyase gene DOID:1540 parathyroid carcinoma ISO RGD:1348386 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1549702 Npl N-acetylneuraminate pyruvate lyase gene DOID:630 genetic disease ISO RGD:1348386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549702 Npl N-acetylneuraminate pyruvate lyase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348386 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1549702 Npl N-acetylneuraminate pyruvate lyase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348386 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:0080000 muscular disease ISO RGD:1353383 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:29905857 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:7240710 20140911 OMIM 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:12467753|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:23488891|PMID:23569079|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30635494|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:8664562|PMID:9536098 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1353383 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:1624365|PMID:16555472 20070608 RGD mRNA:increased expression:gastrocnemius 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:2018 hyperinsulinism IEP D RGD:1624365|PMID:16555472 20070608 RGD mRNA:increased expression:gastrocnemius 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1353383 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29905857 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:21310273|PMID:23488891|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:28492532|PMID:28712002|PMID:29054425 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:630 genetic disease ISO RGD:1353383 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353383 D RGD:2313353|PMID:9519709 20090918 RGD 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313355|PMID:7589852 20090918 RGD protein:decreased expression:epididymal fat pad, liver, skeletal muscle 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1353383 D RGD:1625423|PMID:11118009 20070608 RGD 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1353383 D RGD:1625423|PMID:11118009 20070608 RGD 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353383 D RGD:2313352|PMID:17574229 20090918 RGD 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1549703 Gfpt1 glutamine fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:1625423|PMID:11118009 20070608 RGD 1549705 Cbx3 chromobox 3 gene DOID:10283 prostate cancer ISO RGD:1352044 D RGD:9586744|PMID:18436254 20141006 RGD protein:increased expression:prostate: 1549705 Cbx3 chromobox 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352044 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1549705 Cbx3 chromobox 3 gene DOID:630 genetic disease ISO RGD:1352044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549705 Cbx3 chromobox 3 gene DOID:9007479 Habitual Abortions ISO RGD:1352044 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 1549706 Egfl8 EGF-like-domain, multiple 8 gene DOID:0050553 JMP syndrome ISO RGD:1347289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1549706 Egfl8 EGF-like-domain, multiple 8 gene DOID:630 genetic disease ISO RGD:1347289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549707 Repin1 replication initiator 1 gene DOID:2843 long QT syndrome ISO RGD:1347617 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1549707 Repin1 replication initiator 1 gene DOID:630 genetic disease ISO RGD:1347617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549711 Tmem43 transmembrane protein 43 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1348900 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 1549711 Tmem43 transmembrane protein 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23400628|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26467025|PMID:26513349|PMID:27153395|PMID:28471438|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 1549711 Tmem43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27153395|PMID:27532257|PMID:28166811|PMID:28301460|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29247119|PMID:29980933|PMID:30206291|PMID:30700137|PMID:31333075|PMID:31568572|PMID:9536098 1549711 Tmem43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28166811|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 1549711 Tmem43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 1549711 Tmem43 transmembrane protein 43 gene DOID:0060417 3p deletion syndrome ISO RGD:1348900 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1549711 Tmem43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:7240710 20140911 OMIM 1549711 Tmem43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant PMID:18230648|PMID:18313022|PMID:18414213|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26840987|PMID:28492532|PMID:29311375|PMID:30847666|PMID:34050020 1549711 Tmem43 transmembrane protein 43 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 1549711 Tmem43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:7240710 20130221 OMIM 1549711 Tmem43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:32880476|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 1549711 Tmem43 transmembrane protein 43 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 1549711 Tmem43 transmembrane protein 43 gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1348900 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 1549711 Tmem43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:7240710 20220427 OMIM 1549711 Tmem43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 PMID:18230648|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26840987|PMID:28492532|PMID:29311375|PMID:30847666|PMID:34050020 1549711 Tmem43 transmembrane protein 43 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348900 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1549711 Tmem43 transmembrane protein 43 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 1549711 Tmem43 transmembrane protein 43 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348900 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 1549711 Tmem43 transmembrane protein 43 gene DOID:2843 long QT syndrome ISO RGD:1348900 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25343256|PMID:25741868|PMID:28492532 1549711 Tmem43 transmembrane protein 43 gene DOID:630 genetic disease ISO RGD:1348900 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1549711 Tmem43 transmembrane protein 43 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348900 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 1549711 Tmem43 transmembrane protein 43 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1549711 Tmem43 transmembrane protein 43 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 1549711 Tmem43 transmembrane protein 43 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348900 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1549712 Ddx18 DEAD-box helicase 18 gene DOID:630 genetic disease ISO RGD:1348568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549717 Ces5a carboxylesterase 5A gene DOID:630 genetic disease ISO RGD:1606422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549718 Mns1 meiosis-specific nuclear structural 1 gene DOID:2717 Bloom syndrome ISO RGD:1605067 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1549718 Mns1 meiosis-specific nuclear structural 1 gene DOID:630 genetic disease ISO RGD:1605067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549718 Mns1 meiosis-specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:7240710 20200812 OMIM 1549718 Mns1 meiosis-specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 1549718 Mns1 meiosis-specific nuclear structural 1 gene DOID:9256 colorectal cancer ISO RGD:1605067 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:7240710 20130221 OMIM 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31965297|PMID:31980526|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34867278|PMID:35342016|PMID:35747619|PMID:36195244|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:7240710 20130221 OMIM 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23724191|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:27884455|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34660203|PMID:34867278|PMID:35747619|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1349414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:1059 intellectual disability ISO RGD:1349414 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349414 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1349414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12631268 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1349414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease susceptibility ISO RGD:1349414 D RGD:1601336|PMID:12556236 20070417 RGD Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:1926 Gaucher's disease ISO RGD:1349414 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:25741868|PMID:28492532 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:557 kidney disease ISO RGD:1349414 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:26980705 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369017|PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:20111001|PMID:22367733|PMID:23252888|PMID:23412609|PMID:23420949|PMID:23430949|PMID:23871123|PMID:25741868|PMID:26499107|PMID:26550340|PMID:26981555|PMID:28255779|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28703315|PMID:29556840|PMID:30788890|PMID:30795770|PMID:9266408 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:893 Wilson disease severity IDA D RGD:1601345|PMID:17259995 20070417 RGD 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24951586 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:9004942 Niemann-Pick Disease, Intermediate, Protracted Neurovisceral ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:17360762|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:26981555|PMID:28492532|PMID:28703315|PMID:7762557|PMID:8051942|PMID:9266408 1549719 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1601347|PMID:14983401 20070417 RGD protein:decreased expression:gastrocnemius 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352968 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1352968 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:12849 autistic disorder ISO RGD:1352968 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352968 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:630 genetic disease ISO RGD:1352968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352968 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:7240710 20230505 OMIM 1549724 Tceal1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked PMID:25741868|PMID:36368327 1549725 Apool apolipoprotein O-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351827 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549725 Apool apolipoprotein O-like gene DOID:12849 autistic disorder ISO RGD:1351827 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549725 Apool apolipoprotein O-like gene DOID:630 genetic disease ISO RGD:1351827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549726 Zpbp2 zona pellucida binding protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1603918 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1549726 Zpbp2 zona pellucida binding protein 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1549726 Zpbp2 zona pellucida binding protein 2 gene DOID:630 genetic disease ISO RGD:1603918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:0060476 Perlman syndrome ISO RGD:1346830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1346830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:2739 Gilbert syndrome ISO RGD:1346830 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1346830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1346830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1346830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:630 genetic disease ISO RGD:1346830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1346830 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 1549728 Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1346830 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1549729 Magix MAGI family member, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605344 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549729 Magix MAGI family member, X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1605344 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1549729 Magix MAGI family member, X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1605344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1549729 Magix MAGI family member, X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1605344 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1549729 Magix MAGI family member, X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1605344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1549729 Magix MAGI family member, X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1605344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1549729 Magix MAGI family member, X-linked gene DOID:12849 autistic disorder ISO RGD:1605344 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549729 Magix MAGI family member, X-linked gene DOID:630 genetic disease ISO RGD:1605344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549730 Serpinb9 serpin family B member 9 gene DOID:630 genetic disease ISO RGD:1318666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549730 Serpinb9 serpin family B member 9 gene DOID:9001341 Chloracne ISO RGD:1318666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1549730 Serpinb9 serpin family B member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1549737 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1549737 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1549737 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1549737 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1346049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0050700 cardiomyopathy ISO RGD:1343083 D RGD:155882460|PMID:31883306 20230119 RGD DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0050902 medulloblastoma ISO RGD:1343083 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343083 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:7240710 20190315 OMIM 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 PMID:25741868|PMID:26571461|PMID:27329731|PMID:27550220|PMID:28492532|PMID:31883306|PMID:32238909 1549738 Nono non-POU domain containing, octamer-binding gene DOID:0080685 aortic dissection ISO RGD:1343083 D RGD:155882452|PMID:24720418 20230118 RGD mRNA, protein:decreased expression:aorta wall (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:11058183|PMID:26571461 20230120 RGD DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:155900764|PMID:36653413 20230213 RGD DNA:missense mutation:CDS:p.P459A (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:10603 glucose intolerance ISO RGD:1343083 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29358041 1549738 Nono non-POU domain containing, octamer-binding gene DOID:12849 autistic disorder ISO RGD:1343083 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549738 Nono non-POU domain containing, octamer-binding gene DOID:1682 congenital heart disease ISO RGD:1343083 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:27550220|PMID:31680349 1549738 Nono non-POU domain containing, octamer-binding gene DOID:1936 atherosclerosis ISO RGD:1343083 D RGD:155900763|PMID:33626912 20230213 RGD mRNA, protein:increased expression:coronary artery (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:1936 atherosclerosis severity ISO RGD:1557128 D RGD:155882449|PMID:29673854 20230118 RGD 1549738 Nono non-POU domain containing, octamer-binding gene DOID:2154 nephroblastoma ISO RGD:1343083 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1549738 Nono non-POU domain containing, octamer-binding gene DOID:224 transient cerebral ischemia ISO RGD:1557128 D RGD:155883175|PMID:29426953 20230206 RGD protein:altered localization:cerebral cortex (mouse) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:2377 multiple sclerosis ISO RGD:1343083 D RGD:156420155|PMID:29100048 20230217 RGD mRNA:altered expression:peripheral blood mononuclear cell (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:5844 myocardial infarction ameliorates ISO RGD:1557128 D RGD:155882458|PMID:35247074 20230119 RGD 1549738 Nono non-POU domain containing, octamer-binding gene DOID:630 genetic disease ISO RGD:1343083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22416126|PMID:25741868|PMID:26571461|PMID:28492532 1549738 Nono non-POU domain containing, octamer-binding gene DOID:7693 abdominal aortic aneurysm ameliorates ISO RGD:1557128 D RGD:155882451|PMID:31512366 20230118 RGD 1549738 Nono non-POU domain containing, octamer-binding gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557128 D RGD:155882450|PMID:31634484 20230118 RGD 1549738 Nono non-POU domain containing, octamer-binding gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:1557128 D RGD:155900763|PMID:33626912 20230213 RGD 1549738 Nono non-POU domain containing, octamer-binding gene DOID:9006385 Congenital Heart Defects, X-Linked ISO RGD:1343083 D RGD:155882461|PMID:27550220 20230120 RGD DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13, (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:9007898 FG Syndrome 1 ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1549738 Nono non-POU domain containing, octamer-binding gene DOID:9008086 Developmental Disabilities ISO RGD:1343083 D RGD:155900764|PMID:36653413 20230213 RGD DNA:missense mutation:CDS:p.P459A (human) 1549738 Nono non-POU domain containing, octamer-binding gene DOID:9538 multiple myeloma exacerbates ISO RGD:1343083 D RGD:155900765|PMID:32410217 20230213 RGD mRNA:increased expression: (human) 1549739 Armcx3 armadillo repeat containing, X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604814 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549739 Armcx3 armadillo repeat containing, X-linked 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1604814 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1549739 Armcx3 armadillo repeat containing, X-linked 3 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1604814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1549739 Armcx3 armadillo repeat containing, X-linked 3 gene DOID:12849 autistic disorder ISO RGD:1604814 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549739 Armcx3 armadillo repeat containing, X-linked 3 gene DOID:630 genetic disease ISO RGD:1604814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:0060476 Perlman syndrome ISO RGD:1352957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1352957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:2739 Gilbert syndrome ISO RGD:1352957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1352957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1352957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:5419 schizophrenia ISO RGD:1352957 D RGD:11554173 20171212 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:630 genetic disease ISO RGD:1352957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1352957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 1549741 Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1352957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1549742 Tead1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:7240710 20130221 OMIM 1549742 Tead1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:15016762|PMID:15359244|PMID:17689488|PMID:25741868|PMID:28492532|PMID:33864784 1549742 Tead1 TEA domain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1351522 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1549742 Tead1 TEA domain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1351522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1549745 Cdyl chromodomain Y-like gene DOID:1826 epilepsy ISS RGD:1556912 D RGD:13592920 20180518 MouseDO 1549745 Cdyl chromodomain Y-like gene DOID:5409 lung small cell carcinoma ISO RGD:1606325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1549745 Cdyl chromodomain Y-like gene DOID:630 genetic disease ISO RGD:1606325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549748 Rfk riboflavin kinase gene DOID:630 genetic disease ISO RGD:1313443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549748 Rfk riboflavin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21308351 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606135 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1606135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:7240710 20190315 OMIM 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 21 PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:29127258|PMID:30029497|PMID:31456290 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:7240710 20140911 OMIM 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:29843741|PMID:30029497|PMID:31456290 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 1549749 Cfap418 cilia and flagella associated protein 418 gene DOID:8501 fundus dystrophy ISO RGD:1606135 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15024694|PMID:15782410|PMID:16740914 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:7240710 20130221 OMIM 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:13981686|PMID:14634649|PMID:15024694|PMID:15355434|PMID:15782410|PMID:16199547|PMID:16493439|PMID:16740914|PMID:20410308|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:31230720|PMID:32041777|PMID:32903913|PMID:33668121|PMID:34470565|PMID:6711604|PMID:9545405 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604644 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604644 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604644 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1604644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25167861|PMID:25741868|PMID:28492532 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:10907 microcephaly ISO RGD:1604644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694|PMID:16740914 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1604644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1604644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16740914 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14634649 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:630 genetic disease ISO RGD:1604644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1604644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694 1549750 Pqbp1 polyglutamine binding protein 1 gene DOID:9006257 Growth Disorders ISO RGD:1604644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:16740914 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0060231 Bruck syndrome ISO RGD:1319279 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bruck syndrome PMID:25741868 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1319279 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22107750|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:7240710 20140911 OMIM 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27362741|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17576681|PMID:20839288|PMID:22949511|PMID:25741868|PMID:26538303|PMID:28492532|PMID:30715774|PMID:9481655|PMID:9536098|PMID:9927692 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:630 genetic disease ISO RGD:1319279 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9002589 Bone Fractures ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9003358 Kyphosis ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:7240710 20150225 OMIM 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 PMID:20362275|PMID:20696291|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:23712425|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737|PMID:9481655|PMID:9927692 1549751 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9007661 Dwarfism ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 1549754 Lypd1 Ly6/Plaur domain containing 1 gene DOID:630 genetic disease ISO RGD:1349683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350586 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350586 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350586 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:12849 autistic disorder ISO RGD:1350586 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:630 genetic disease ISO RGD:1350586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350586 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350586 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1549755 Dynlt3 dynein light chain Tctex-type 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1549757 Fkbp9 FKBP prolyl isomerase 9 gene DOID:0080600 COVID-19 ISO RGD:1354428 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1549757 Fkbp9 FKBP prolyl isomerase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354428 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1549757 Fkbp9 FKBP prolyl isomerase 9 gene DOID:630 genetic disease ISO RGD:1354428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549759 Tmem140 transmembrane protein 140 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605364 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1549759 Tmem140 transmembrane protein 140 gene DOID:630 genetic disease ISO RGD:1605364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0050144 Kartagener syndrome ISO RGD:1343869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0060254 Robinow syndrome ISS RGD:1558065 D RGD:13592920 20180518 MouseDO 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1343869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 ISO RGD:1343869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 PMID:12954984|PMID:23872636|PMID:24033266|PMID:24824133|PMID:25186273|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:30290127|PMID:33760720 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 susceptibility ISO RGD:1343869 D RGD:7240710 20230517 OMIM 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:12336 male infertility ISO RGD:1343869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:2717 Bloom syndrome ISO RGD:1343869 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia ISO RGD:1343869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 PMID:12954984|PMID:23872636|PMID:24033266|PMID:25741868|PMID:28492532 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia susceptibility ISO RGD:1343869 D RGD:7240710 20230517 OMIM 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343869 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:9256 colorectal cancer ISO RGD:1343869 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1549760 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343869 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:23872636|PMID:24033266|PMID:24824133|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075 1549763 Msl3 MSL complex subunit 3 gene DOID:0050735 X-linked monogenic disease ISO RGD:1605696 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 1549763 Msl3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:7240710 20191002 OMIM 1549763 Msl3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Basilicata-Akhtar syndrome PMID:25741868|PMID:30224647|PMID:33173220 1549763 Msl3 MSL complex subunit 3 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1605696 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 1549763 Msl3 MSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1605696 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30224647 1549763 Msl3 MSL complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1605696 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549763 Msl3 MSL complex subunit 3 gene DOID:13938 amenorrhea ISO RGD:1605696 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1549763 Msl3 MSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1605696 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16227571|PMID:30224647 1549763 Msl3 MSL complex subunit 3 gene DOID:9001487 Facies ISO RGD:1605696 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 1549763 Msl3 MSL complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605696 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1549763 Msl3 MSL complex subunit 3 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1605696 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 1549763 Msl3 MSL complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1605696 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 1549763 Msl3 MSL complex subunit 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605696 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 1549766 Serpinb3 serpin family B member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 1549766 Serpinb3 serpin family B member 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346118 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1549766 Serpinb3 serpin family B member 3 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1346118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1549766 Serpinb3 serpin family B member 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1346118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 1549766 Serpinb3 serpin family B member 3 gene DOID:2773 contact dermatitis ISO RGD:1346118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1549766 Serpinb3 serpin family B member 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1346118 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1549766 Serpinb3 serpin family B member 3 gene DOID:630 genetic disease ISO RGD:1346118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549766 Serpinb3 serpin family B member 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1346118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 1549766 Serpinb3 serpin family B member 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1346118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1549766 Serpinb3 serpin family B member 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1346118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 1549767 Coasy Coenzyme A synthase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:33644862 1549767 Coasy Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:7240710 20140911 OMIM 1549767 Coasy Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 PMID:16199547|PMID:17576681|PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28106320|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:30089828|PMID:31130284|PMID:33644862|PMID:9536098 1549767 Coasy Coenzyme A synthase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1354088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 1549767 Coasy Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:7240710 20190315 OMIM 1549767 Coasy Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12 PMID:25741868|PMID:28492532|PMID:30089828 1549767 Coasy Coenzyme A synthase gene DOID:12801 mucopolysaccharidosis III susceptibility ISO RGD:1354088 D RGD:1642057|PMID:11153910 20070830 RGD DNA:nonsense mutation, splice-site mutation, missense mutations:multiple 1549767 Coasy Coenzyme A synthase gene DOID:630 genetic disease ISO RGD:1354088 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360804|PMID:25741868|PMID:28106320|PMID:28492532|PMID:30089828 1549768 Stard3 StAR-related lipid transfer domain containing 3 gene DOID:630 genetic disease ISO RGD:1347857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549768 Stard3 StAR-related lipid transfer domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17592021 1549770 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1350794 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1549770 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1350794 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32338762 1549770 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350794 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 1549770 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350794 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1549770 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549770 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:0060476 Perlman syndrome ISO RGD:1348090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:2739 Gilbert syndrome ISO RGD:1348090 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1348090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:3021 acute kidney failure ISO RGD:1348090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1348090 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1348090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348090 D RGD:2325161|PMID:9230212 20100521 RGD 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:630 genetic disease ISO RGD:1348090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1348090 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1348090 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1549771 Ugt1a9 UDP glucuronosyltransferase family 1 member A9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 1549772 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:2717 Bloom syndrome ISO RGD:1602075 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1549772 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:607 paraplegia ISO RGD:1602075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1549772 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1602075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549772 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:9256 colorectal cancer ISO RGD:1602075 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1549773 Lrrc1 leucine rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1318108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549773 Lrrc1 leucine rich repeat containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318108 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1549774 Irf3 interferon regulatory factor 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1549774 Irf3 interferon regulatory factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344104 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1549774 Irf3 interferon regulatory factor 3 gene DOID:2841 asthma ISO RGD:1558245 D RGD:5128793|PMID:20673978 20110316 RGD 1549774 Irf3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344104 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 1549774 Irf3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344104 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 1549774 Irf3 interferon regulatory factor 3 gene DOID:630 genetic disease ISO RGD:1344104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549774 Irf3 interferon regulatory factor 3 gene DOID:874 bacterial pneumonia ISO RGD:1558245 D RGD:4891951|PMID:20720199 20110316 RGD 1549774 Irf3 interferon regulatory factor 3 gene DOID:9000840 Herpes Simplex Encephalitis 7 susceptibility ISO RGD:1344104 D RGD:7240710 20190502 OMIM 1549774 Irf3 interferon regulatory factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1344104 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1549774 Irf3 interferon regulatory factor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1558245 D RGD:5128795|PMID:17027894 20110316 RGD 1549776 Aspn asporin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1345823 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1549776 Aspn asporin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 1549776 Aspn asporin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1549776 Aspn asporin gene DOID:630 genetic disease ISO RGD:1345823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549776 Aspn asporin gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1345823 D RGD:9684964|PMID:20144272 20141211 RGD DNA:repeats:exon: 1549776 Aspn asporin gene DOID:8398 osteoarthritis ISO RGD:1345823 D RGD:7240710 20230505 OMIM 1549776 Aspn asporin gene DOID:8398 osteoarthritis no_association ISO RGD:1345823 D RGD:9684966|PMID:16542493 20141211 RGD DNA:repeats:exon: 1549776 Aspn asporin gene DOID:90 degenerative disc disease severity ISO RGD:1345823 D RGD:9684961|PMID:19327154 20141211 RGD mRNA:increased expression:intervertebral disk: 1549776 Aspn asporin gene DOID:90 degenerative disc disease susceptibility ISO RGD:1345823 D RGD:9684970|PMID:18304494 20141211 RGD DNA:repeats:exon: 1549776 Aspn asporin gene DOID:9000058 Keloid ISO RGD:1345823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1549776 Aspn asporin gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1345823 D RGD:7240710 20230505 OMIM 1549776 Aspn asporin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1549776 Aspn asporin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345823 D RGD:9684965|PMID:15640800 20141211 RGD mRNA:increased expression:cartilage: 1549776 Aspn asporin gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1345823 D RGD:9684965|PMID:15640800 20141211 RGD DNA:repeats:exon: 1549776 Aspn asporin gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345823 D RGD:9684965|PMID:15640800 20141211 RGD mRNA:increased expression:cartilage: 1549776 Aspn asporin gene DOID:9007078 Hip Dislocation susceptibility ISO RGD:1345823 D RGD:9684968|PMID:21329514 20141211 RGD DNA:repeats:exon: 1549778 Sertad1 SERTA domain containing 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1549778 Sertad1 SERTA domain containing 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1549778 Sertad1 SERTA domain containing 1 gene DOID:2340 craniosynostosis ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1549778 Sertad1 SERTA domain containing 1 gene DOID:630 genetic disease ISO RGD:1353244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549778 Sertad1 SERTA domain containing 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1549778 Sertad1 SERTA domain containing 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18097604 1549778 Sertad1 SERTA domain containing 1 gene DOID:9269 maple syrup urine disease ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1549780 Xkr4 XK related 4 gene DOID:303 substance-related disorder ISO RGD:1606184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1549780 Xkr4 XK related 4 gene DOID:630 genetic disease ISO RGD:1606184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549782 Pcgf1 polycomb group ring finger 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1549782 Pcgf1 polycomb group ring finger 1 gene DOID:543 dystonia ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1549782 Pcgf1 polycomb group ring finger 1 gene DOID:630 genetic disease ISO RGD:1349943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549782 Pcgf1 polycomb group ring finger 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1549783 Car5b carbonic anhydrase 5B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343079 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549783 Car5b carbonic anhydrase 5B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1549783 Car5b carbonic anhydrase 5B gene DOID:12849 autistic disorder ISO RGD:1343079 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549783 Car5b carbonic anhydrase 5B gene DOID:13636 Fanconi anemia ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1549783 Car5b carbonic anhydrase 5B gene DOID:630 genetic disease ISO RGD:1343079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1549783 Car5b carbonic anhydrase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343079 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605724 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1605724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12849 autistic disorder ISO RGD:1605724 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605724 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:34008892 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:14499 Fabry disease ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11889412|PMID:15776423|PMID:17532296|PMID:17555407|PMID:18205205|PMID:20022777|PMID:21598360|PMID:21683120|PMID:23691425|PMID:23913314|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25026990|PMID:25040344|PMID:25382311|PMID:25596309|PMID:25741868|PMID:26563328|PMID:27831900|PMID:27979989|PMID:28492532|PMID:30386727|PMID:30594474|PMID:33204599|PMID:34803097|PMID:7531540 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:2303 stereotypic movement disorder ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:630 genetic disease ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1605724 D RGD:7240710 20190315 OMIM 1549784 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 1549794 SS.LEW-(D2Rat199-D2Mco17)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20131211 RGD 1549799 BB.SHR-(D6Rat184-D6Rat3)/K strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:619685|PMID:11327715 20200206 RGD 1549801 BN/Seac strain DOID:9351 diabetes mellitus MODEL: control IAGP D RGD:631173|PMID:12705906 20200130 RGD compared to SDT/Jcl 1549827 Scl46 Serum cholesterol level QTL 46 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1547851|PMID:16061941 19990101 RGD 1549828 Bp258 Blood pressure QTL 258 qtl DOID:10763 hypertension IAGP D RGD:1357413|PMID:15738349 19990101 RGD 1549829 Scl48 Serum cholesterol level QTL 48 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1547851|PMID:16061941 19990101 RGD 1549830 Bss1 Bone structure and strength QTL 1 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549831 Bss6 Bone structure and strength QTL 6 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549832 Bss3 Bone structure and strength QTL 3 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549833 Bp257 Blood pressure QTL 257 qtl DOID:10763 hypertension IAGP D RGD:1357413|PMID:15738349 19990101 RGD 1549834 Scl45 Serum cholesterol level QTL 45 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1547851|PMID:16061941 19990101 RGD 1549835 Tcas7 Tongue tumor susceptibility QTL 7 qtl DOID:9005873 Tongue Neoplasms IAGP D RGD:1358147|PMID:15876484 19990101 RGD 1549836 Bss2 Bone structure and strength QTL 2 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549837 Hcar15 Hepatocarcinoma resistance QTL 15 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:1358145|PMID:15771619 19990101 RGD 1549838 Bss4 Bone structure and strength QTL 4 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549839 Bw52 Body weight QTL 52 qtl DOID:9970 obesity IAGP D RGD:1358143|PMID:15833945 19990101 RGD 1549840 Bss5 Bone structure and strength QTL 5 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549841 Bp256 Blood pressure QTL 256 qtl DOID:10763 hypertension IAGP D RGD:1357413|PMID:15738349 19990101 RGD 1549842 Bp248 Blood pressure QTL 248 qtl DOID:10763 hypertension IAGP D RGD:1300037|PMID:15080379 19990101 RGD 1549843 Bw53 Body weight QTL 53 qtl DOID:9970 obesity IAGP D RGD:1358143|PMID:15833945 19990101 RGD 1549844 Bss7 Bone structure and strength QTL 7 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549845 Scl44 Serum cholesterol level QTL 44 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1547851|PMID:16061941 19990101 RGD 1549846 Scl47 Serum cholesterol level QTL 47 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1547851|PMID:16061941 19990101 RGD 1549847 Bss8 Bone structure and strength QTL 8 qtl DOID:0080001 bone disease IAGP D RGD:1549683|PMID:16059631 19990101 RGD 1549848 Bvd6 Brain ventricular dilatation QTL 6 qtl DOID:10908 hydrocephalus IAGP D RGD:68693|PMID:11178739 19990101 RGD 1549897 Stresp12 Stress response QTL 12 qtl DOID:2030 anxiety disorder IAGP D RGD:1358767|PMID:15685431 19990101 RGD 1549898 Neuinf3 Neuroinflammation QTL 3 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:1358788|PMID:14586010 19990101 RGD 1549899 Stresp8 Stress response QTL 8 qtl DOID:2030 anxiety disorder IAGP D RGD:1358767|PMID:15685431 19990101 RGD 1549900 Iddm20 Insulin dependent diabetes mellitus QTL 20 qtl DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1358924|PMID:15793267 19990101 RGD 1549901 Neudeg2 Neurodegradation QTL 2 qtl DOID:1289 neurodegenerative disease IAGP D RGD:1358788|PMID:14586010 19990101 RGD 1549901 Neudeg2 Neurodegradation QTL 2 qtl DOID:331 central nervous system disease IAGP D RGD:1358788|PMID:14586010 19990101 RGD 1549902 Bp269 Blood pressure QTL 269 qtl DOID:10763 hypertension IAGP D RGD:1358144|PMID:15809361 19990101 RGD 1549903 Bp267 Blood pressure QTL 267 qtl DOID:10763 hypertension IAGP D RGD:1358144|PMID:15809361 19990101 RGD 1549904 Neuinf1 Neuroinflammation QTL 1 qtl DOID:331 central nervous system disease IAGP D RGD:1358788|PMID:14586010 19990101 RGD 1549905 Stresp10 Stress response QTL 10 qtl DOID:2030 anxiety disorder IAGP D RGD:1358767|PMID:15685431 19990101 RGD 1549907 Neuinf2 Neuroinflammation QTL 2 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:1358788|PMID:14586010 19990101 RGD 1549907 Neuinf2 Neuroinflammation QTL 2 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:7242893|PMID:18292553 20170825 RGD 1549908 Neudeg1 Neurodegradation QTL 1 qtl DOID:1289 neurodegenerative disease IAGP D RGD:1358788|PMID:14586010 19990101 RGD 1549909 Stresp11 Stress response QTL 11 qtl DOID:2030 anxiety disorder IAGP D RGD:1358767|PMID:15685431 19990101 RGD 1549910 Bw54 Body weight QTL 54 qtl DOID:9970 obesity IAGP D RGD:1358859|PMID:15883013 19990101 RGD 1549911 Stresp9 Stress response QTL 9 qtl DOID:2030 anxiety disorder IAGP D RGD:1358767|PMID:15685431 19990101 RGD 1549912 Bp268 Blood pressure QTL 268 qtl DOID:10763 hypertension IAGP D RGD:1358144|PMID:15809361 19990101 RGD 1549913 Stresp13 Stress response QTL 13 qtl DOID:2030 anxiety disorder IAGP D RGD:1358767|PMID:15685431 19990101 RGD 155261286 CVCL_C1JV betaG 11/3E9 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261288 CVCL_C1JU betaG I/17 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261290 CVCL_C1JX betaG 40/107 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261292 CVCL_C1JW betaG 23/21 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261296 CVCL_C1JL betaG 111/228 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261297 CVCL_C1JK betaG 18/3E1 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261313 CVCL_C1IX T9 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261342 CVCL_C1KE RIN 100/1 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261344 CVCL_C1KG RIN 100/6 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261345 CVCL_C1KF RIN 100/2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261346 CVCL_C1KI RIN 30/7 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261347 CVCL_C1KH RIN 30/10 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261348 CVCL_C1JZ betaG 40/110 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261349 CVCL_C1JY betaG 49/206 cell line DOID:3892 insulinoma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C121566 155261389 CVCL_C1IQ T2 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261391 CVCL_C1IP T13 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261393 CVCL_C1IS T4 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261395 CVCL_C1IR T3 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261397 CVCL_C1IU T6 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261399 CVCL_C1IT T5 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261401 CVCL_C1IW T8 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261403 CVCL_C1IV T7 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261406 CVCL_C1IK T1 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261408 CVCL_C1IM T11 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261409 CVCL_C1IL T10 [Rat mesothelioma] cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 155261411 CVCL_C1IN T12 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20221007 CELLOSAURUS NCI:C60453 1554317 Bmd4 Bone mineral density QTL 4 qtl DOID:11476 osteoporosis IAGP D RGD:1553896|PMID:16180139 19990101 RGD 1554318 Bmd5 Bone mineral density QTL 5 qtl DOID:11476 osteoporosis IAGP D RGD:1553896|PMID:16180139 19990101 RGD 1554319 Bmd2 Bone mineral density QTL 2 qtl DOID:11476 osteoporosis IAGP D RGD:1553896|PMID:16180139 19990101 RGD 1554320 Bmd1 Bone mineral density QTL 1 qtl DOID:11476 osteoporosis IAGP D RGD:1553896|PMID:16180139 19990101 RGD 1554321 Bmd3 Bone mineral density QTL 3 qtl DOID:11476 osteoporosis IAGP D RGD:1553896|PMID:16180139 19990101 RGD 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:0050424 familial adenomatous polyposis IMP D RGD:1601201|PMID:17360473 20080924 RGD 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:234 colon adenocarcinoma IMP D RGD:1601201|PMID:17360473 20080924 RGD associated with Adenomatous Polyposis Coli 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:2355 anemia IMP D RGD:1601201|PMID:17360473 20201210 RGD 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:9002245 Intestinal Neoplasms IMP D RGD:1601201|PMID:17360473 20201210 RGD 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:9002928 Colonic Neoplasms IMP D RGD:1601201|PMID:17360473 20201210 RGD 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:9004271 Colonic Polyps IMP D RGD:1601201|PMID:17360473 20201210 RGD 1554322 ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon gene DOID:9004594 Jaw Neoplasms IMP D RGD:1601201|PMID:17360473 20201210 RGD 155631259 Taiep strain DOID:10027 tabes dorsalis IAGP D RGD:155631258|PMID:2724922 20221028 RGD 155641233 SD-Tg(Rho*P23H)1Lav strain DOID:10584 retinitis pigmentosa IMP D RGD:11065783|PMID:26009893 20170817 RGD 155641235 WMI/Eer WKY most immobile strain DOID:1596 depressive disorder susceptibility IAGP D RGD:4891105|PMID:21079605 20110107 RGD in the forced swim test (FST) 155641237 WLI/Eer WKY least immobile strain DOID:1596 depressive disorder resistance IAGP D RGD:4891105|PMID:21079605 20110107 RGD in the forced swim test (FST) 1556747 Calcic1 Intracellular calcium level QTL 1 qtl DOID:10763 hypertension IDA D RGD:1547855|PMID:15882549 19990101 RGD 1556748 F344/Snk strain DOID:10763 hypertension MODEL: control IAGP D RGD:1599588|PMID:17261463 20200129 RGD compared to SHR/Snk strain 155791740 CVCL_C6IH RH7777 GFP-LYVE-1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20230106 CELLOSAURUS NCI:C60416 155792740 CVCL_C4MR RBL-hEIalpha-2B12 cell line DOID:1240 leukemia IEA D RGD:21410187 20230106 CELLOSAURUS NCI:C60428 155792742 CVCL_C4MQ RBL-30/25 cell line DOID:1240 leukemia IEA D RGD:21410187 20230106 CELLOSAURUS NCI:C60428 155792762 CVCL_C4MP RBL SX-38 cell line DOID:1240 leukemia IEA D RGD:21410187 20230106 CELLOSAURUS NCI:C60428 155794008 CVCL_C4UT PC12-P1F1 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20230106 CELLOSAURUS NCI:C121568 155794010 CVCL_C4US PC12-P1D10 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20230106 CELLOSAURUS NCI:C121568 155804258 BN/Rij strain DOID:9119 acute myeloid leukemia MODEL: induced IAGP D RGD:155804262|PMID:6941052 20230111 RGD 155804258 BN/Rij strain DOID:9119 acute myeloid leukemia MODEL: induced IAGP D RGD:155804263|PMID:3860369 20230111 RGD 155804258 BN/Rij strain DOID:9119 acute myeloid leukemia MODEL: induced IAGP D RGD:155804289|PMID:6778781 20230116 RGD 155804258 BN/Rij strain DOID:9119 acute myeloid leukemia treatment IAGP D RGD:155804260|PMID:6589456 20230110 RGD 155804258 BN/Rij strain DOID:9119 acute myeloid leukemia treatment IAGP D RGD:155804261|PMID:8319208 20230111 RGD 1558640 Prcs2 Prostate cancer susceptibility QTL 2 qtl DOID:9002304 Prostatic Neoplasms IAGP D RGD:1358944|PMID:15805257 19990101 RGD 1558641 Cm47 Cardiac mass QTL 47 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 19990101 RGD 1558642 Prcr2 Prostate cancer resistance QTL 2 qtl DOID:9002304 Prostatic Neoplasms IAGP D RGD:1358944|PMID:15805257 19990101 RGD 1558643 Cm44 Cardiac mass QTL 44 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 19990101 RGD 1558644 Cm45 Cardiac mass QTL 45 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 19990101 RGD 1558646 Swd5 Spike wave discharge measurement QTL 5 qtl DOID:1825 childhood absence epilepsy IAGP D RGD:1553898|PMID:15030491 19990101 RGD 1558647 Cm46 Cardiac mass QTL 46 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 19990101 RGD 1558648 Smcn1 Smooth muscle cell number QTL 1 qtl DOID:520 aortic disease IAGP D RGD:1357419|PMID:15741507 19990101 RGD 1558650 Cm48 Cardiac mass QTL 48 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 19990101 RGD 1558651 Swd3 Spike wave discharge measurement QTL 3 qtl DOID:1825 childhood absence epilepsy IAGP D RGD:1553898|PMID:15030491 19990101 RGD 1558653 Prcr1 Prostate cancer resistance QTL 1 qtl DOID:9002304 Prostatic Neoplasms IAGP D RGD:1358944|PMID:15805257 19990101 RGD 1558655 Swd4 Spike wave discharge measurement QTL 4 qtl DOID:1825 childhood absence epilepsy IAGP D RGD:1553898|PMID:15030491 19990101 RGD 1558656 Prcs1 Prostate cancer susceptibility QTL 1 qtl DOID:9002304 Prostatic Neoplasms IAGP D RGD:1358944|PMID:15805257 19990101 RGD 1558657 Cm43 Cardiac mass QTL 43 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 19990101 RGD 1558659 Tescar1 Testicular tumor resistance QTL 1 qtl DOID:9004207 Testicular Neoplasms IAGP D RGD:1358944|PMID:15805257 19990101 RGD 1558660 SHRSP/Tkyo strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1554311|PMID:16097372 19990101 RGD compared to WKY/Tkyo 1558660 SHRSP/Tkyo strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:18337260|PMID:19015604 20200117 RGD 1558660 SHRSP/Tkyo strain DOID:9003936 Cardiomegaly MODEL: spontaneous IAGP D RGD:1554311|PMID:16097372 19990101 RGD compared to WKY/Tkyo 1558660 SHRSP/Tkyo strain DOID:9003936 Cardiomegaly MODEL: spontaneous IAGP D RGD:18337260|PMID:19015604 20200117 RGD 1558661 WKY/Tkyo strain DOID:10763 hypertension MODEL: control IAGP D RGD:1554311|PMID:16097372 20200110 RGD compared to SHR/Tyko and SHRSP/Tyko 1558661 WKY/Tkyo strain DOID:9003936 Cardiomegaly MODEL: control IAGP D RGD:1554311|PMID:16097372 20200110 RGD compared to SHR/Tyko and SHRSP/Tyko 1558662 SHR/Tkyo strain DOID:10763 hypertension susceptibility IAGP D RGD:1554311|PMID:16097372 19990101 RGD compared to WKY/Tkyo 1558662 SHR/Tkyo strain DOID:9003936 Cardiomegaly IAGP D RGD:1554311|PMID:16097372 20200117 RGD compared to WKY/Tkyo 1559031 NE/Mave strain DOID:0070309 absence epilepsy IAGP D RGD:150520046|PMID:19144837 20211116 RGD compared to GAERS 1559036 LEW/Jms strain DOID:1572 normal pressure hydrocephalus IAGP D RGD:1559416|PMID:12541080 19990101 RGD 1559039 ODS/Shi Osteogenic disorder Shionogi strain DOID:13724 scurvy induced IAGP XCO:0000691 D RGD:1556471|PMID:11693268 20210428 RGD 1559043 MV/Opu myelin vacuolation rat strain DOID:9000495 Tremor IAGP D RGD:1299186|PMID:12379762 20090216 RGD 1559044 SS.SR-(D3Mco19-D3Mco5)/Jr strain DOID:9006024 Hypotension induced IAGP XCO:0000022 D RGD:69705|PMID:9922389 19990101 RGD compared to SS/Jr 1559045 LEW/Crlc strain DOID:9003631 Diastolic Dysfunction MODEL: control IAGP XCO:0000022 D RGD:8657131|PMID:23442991 20210113 RGD compared to SS/JrHsd and congenic strains 1559045 LEW/Crlc strain DOID:9004616 Left Ventricular Hypertrophy MODEL: control IAGP XCO:0000022 D RGD:8657131|PMID:23442991 20210113 RGD compared to SS/JrHsd and congenic strains 1559047 SHRSP/Ezo strain DOID:10914 amnestic disorder IAGP D RGD:1556766|PMID:8610323 20200127 RGD compared to WKY 1559047 SHRSP/Ezo strain DOID:8725 vascular dementia MODEL: spontaneous IAGP D RGD:1556766|PMID:8610323 19990101 RGD compared to WKY 1559047 SHRSP/Ezo strain DOID:8725 vascular dementia MODEL: spontaneous IAGP D RGD:18936992|PMID:9072380 20200130 RGD compared to WKY 1559048 SHR.ODS-Gulood/Shi strain DOID:10763 hypertension IAGP D RGD:1556471|PMID:11693268 19990101 RGD compared to ODS/Jcl strain 1559048 SHR.ODS-Gulood/Shi strain DOID:13724 scurvy induced IAGP XCO:0000691 D RGD:1556471|PMID:11693268 20090216 RGD 1559055 Bp278 Blood pressure QTL 278 qtl DOID:10763 hypertension IAGP D RGD:1547847|PMID:15632271 19990101 RGD 1559143 Zscan5b zinc finger and SCAN domain containing 5B gene DOID:630 genetic disease ISO RGD:2293895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559144 Zfp445 zinc finger protein 445 gene DOID:630 genetic disease ISO RGD:1349162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559150 Zscan29 zinc finger and SCAN domain containing 29 gene DOID:2717 Bloom syndrome ISO RGD:1605867 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1559150 Zscan29 zinc finger and SCAN domain containing 29 gene DOID:630 genetic disease ISO RGD:1605867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559150 Zscan29 zinc finger and SCAN domain containing 29 gene DOID:9256 colorectal cancer ISO RGD:1605867 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1559282 Emca5 Estrogen-induced mammary cancer QTL 5 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1642522|PMID:16885383 20120810 RGD 1559283 Emca4 Estrogen-induced mammary cancer QTL 4 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1642522|PMID:16885383 20120810 RGD 1559423 Itm2a integral membrane protein 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354301 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559423 Itm2a integral membrane protein 2A gene DOID:0080600 COVID-19 ISO RGD:1354301 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1559423 Itm2a integral membrane protein 2A gene DOID:12849 autistic disorder ISO RGD:1354301 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559423 Itm2a integral membrane protein 2A gene DOID:630 genetic disease ISO RGD:1354301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559427 Wwc2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1559427 Wwc2 WW and C2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559430 Ddi1 DNA-damage inducible 1 homolog 1 gene DOID:1059 intellectual disability ISO RGD:1604424 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559430 Ddi1 DNA-damage inducible 1 homolog 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1604424 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1559430 Ddi1 DNA-damage inducible 1 homolog 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604424 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1559430 Ddi1 DNA-damage inducible 1 homolog 1 gene DOID:630 genetic disease ISO RGD:1604424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559436 Mrc2 mannose receptor, C type 2 gene DOID:305 carcinoma ISO RGD:1320297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1559436 Mrc2 mannose receptor, C type 2 gene DOID:630 genetic disease ISO RGD:1320297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559436 Mrc2 mannose receptor, C type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1320297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1559436 Mrc2 mannose receptor, C type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1559436 Mrc2 mannose receptor, C type 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320297 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25741868 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1557036 D RGD:13592920 20190516 MouseDO 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:12849 autistic disorder ISO RGD:1342691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17380209 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:13580 cholestasis ISO RGD:1342691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:303 substance-related disorder ISO RGD:1342691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342691 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:630 genetic disease ISO RGD:1342691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559440 Cadps2 calcium dependent secretion activator 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:28492532 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354337 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:7240710 20130425 OMIM 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY PMID:17668385|PMID:18414213|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30628072|PMID:36937954|PMID:7943039 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1354337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1354337 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:630 genetic disease ISO RGD:1354337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21468892|PMID:25741868|PMID:28492532 1559445 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:0050476 Barth syndrome ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:0050800 creatine transporter deficiency ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:10588 adrenoleukodystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1344727 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:13628 favism ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:2729 dyskeratosis congenita ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:607 paraplegia ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1559446 Zfp92 ZFP92 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559447 Pth2 parathyroid hormone 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1601727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1559447 Pth2 parathyroid hormone 2 gene DOID:630 genetic disease ISO RGD:1601727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559448 LOC502684 hypothetical protein LOC502684 gene DOID:630 genetic disease ISO RGD:1346131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559448 LOC502684 hypothetical protein LOC502684 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346131 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559449 Stradb STE20 related adaptor beta gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1559449 Stradb STE20 related adaptor beta gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1559449 Stradb STE20 related adaptor beta gene DOID:0110983 Joubert syndrome 14 ISO RGD:1350818 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:28492532 1559449 Stradb STE20 related adaptor beta gene DOID:630 genetic disease ISO RGD:1350818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559449 Stradb STE20 related adaptor beta gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350818 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1559449 Stradb STE20 related adaptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350818 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559449 Stradb STE20 related adaptor beta gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1559450 Tmem102 transmembrane protein 102 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1559450 Tmem102 transmembrane protein 102 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604962 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1559450 Tmem102 transmembrane protein 102 gene DOID:1059 intellectual disability ISO RGD:1604962 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1559450 Tmem102 transmembrane protein 102 gene DOID:12177 common variable immunodeficiency ISO RGD:1604962 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1559450 Tmem102 transmembrane protein 102 gene DOID:2729 dyskeratosis congenita ISO RGD:1604962 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1559450 Tmem102 transmembrane protein 102 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1559450 Tmem102 transmembrane protein 102 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604962 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1559450 Tmem102 transmembrane protein 102 gene DOID:630 genetic disease ISO RGD:1604962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559451 Erich6 glutamate-rich 6 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1559451 Erich6 glutamate-rich 6 gene DOID:630 genetic disease ISO RGD:1605578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0060252 sclerocornea ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerocornea 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1350418 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:33508233 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 18 PMID:33508233 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 52 PMID:33508233 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:10629 microphthalmia ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:14227 azoospermia ISO RGD:1350418 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:33508233 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:630 genetic disease ISO RGD:1350418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:83 cataract ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cataract 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 1559456 Six6os1 Six6 opposite strand transcript 1 gene DOID:9650 pathologic nystagmus ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus 1559457 Sp9 Sp9 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:2303677 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1559457 Sp9 Sp9 transcription factor gene DOID:1059 intellectual disability ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities 1559457 Sp9 Sp9 transcription factor gene DOID:12849 autistic disorder ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 1559457 Sp9 Sp9 transcription factor gene DOID:630 genetic disease ISO RGD:2303677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559457 Sp9 Sp9 transcription factor gene DOID:9001793 Generalized Epilepsy ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 1559457 Sp9 Sp9 transcription factor gene DOID:9005603 Muscle Hypotonia ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia 1559459 RGD1559459 similar to Expressed sequence AI788959 gene DOID:630 genetic disease ISO RGD:1349165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559459 RGD1559459 similar to Expressed sequence AI788959 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349165 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma IGI RGD:1309773 D RGD:150573693|PMID:27234928 20220107 RGD 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:1599191|PMID:12068298 20070118 RGD 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:12068298|PMID:17102621|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24651015|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28717660|PMID:28873162|PMID:29186568|PMID:29641532|PMID:29753700|PMID:33024317|PMID:34056767 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0060071 pre-malignant neoplasm IEP D RGD:150520178|PMID:30537251 20220112 RGD mRNA:decreased expression:stomach mucosa (rat) 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome 32 PMID:22508808|PMID:25741868|PMID:27930734|PMID:28492532|PMID:28965847 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:10283 prostate cancer ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2120 focal dermal hypoplasia ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:9536098 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISS RGD:1556878 D RGD:13592920 20230511 MouseDO OMIM:109400 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2513 basal cell carcinoma ISO RGD:1346700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme IEP D RGD:150573813|PMID:30790292 20220112 RGD human, rat, and/or mouse glioma cells in a mouse model 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3840 craniopharyngioma ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532|PMID:29641532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1346700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:22958902|PMID:25741868 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:4621 holoprosencephaly ISO RGD:1346700 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Microform holoprosencephaly PMID:24728327|PMID:27363716|PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:630 genetic disease ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:8418 congenital fibrosarcoma ISO RGD:1346700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fibrosarcoma 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346700 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1346700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9006702 Basal Cell Nevus Syndrome 2 ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome 2 PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9006702 Basal Cell Nevus Syndrome 2 susceptibility ISO RGD:1346700 D RGD:7240710 20230517 OMIM 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:9536098 1559462 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346700 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1559463 Stoml1 stomatin like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1559463 Stoml1 stomatin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1347763 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1559463 Stoml1 stomatin like 1 gene DOID:5419 schizophrenia ISO RGD:1347763 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559463 Stoml1 stomatin like 1 gene DOID:630 genetic disease ISO RGD:1347763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559463 Stoml1 stomatin like 1 gene DOID:9256 colorectal cancer ISO RGD:1347763 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1559465 Purb purine rich element binding protein B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353565 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559465 Purb purine rich element binding protein B gene DOID:630 genetic disease ISO RGD:1353565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559468 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:11372 megacolon ISO RGD:1348817 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1559468 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:3459 breast carcinoma ISO RGD:1348817 D RGD:9589053|PMID:17546051 20141105 RGD protein:decreased expression:breast (human) 1559468 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:3905 lung carcinoma ISO RGD:1348817 D RGD:9589053|PMID:17546051 20141105 RGD protein:decreased expression:bronchus, parenchyma (human) 1559468 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:4362 cervical cancer ISO RGD:1348817 D RGD:9589052|PMID:21853275 20141105 RGD mRNA, protein:increased expression:uterine cervix (human) 1559468 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1348817 D RGD:9589059|PMID:23569343 20141105 RGD protein:decreased expression:stomach (human) 1559468 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:630 genetic disease ISO RGD:1348817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559469 Ror1 receptor tyrosine kinase-like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:7240710 20190315 OMIM 1559469 Ror1 receptor tyrosine kinase-like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 108 PMID:25741868|PMID:27162350|PMID:28492532 1559469 Ror1 receptor tyrosine kinase-like orphan receptor 1 gene DOID:1059 intellectual disability ISO RGD:1352147 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1559469 Ror1 receptor tyrosine kinase-like orphan receptor 1 gene DOID:630 genetic disease ISO RGD:1352147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559469 Ror1 receptor tyrosine kinase-like orphan receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352147 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1559469 Ror1 receptor tyrosine kinase-like orphan receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352147 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1559473 Ccdc3 coiled-coil domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351886 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1559473 Ccdc3 coiled-coil domain containing 3 gene DOID:1070 primary open angle glaucoma ISO RGD:1351886 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 1559473 Ccdc3 coiled-coil domain containing 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351886 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 1559473 Ccdc3 coiled-coil domain containing 3 gene DOID:630 genetic disease ISO RGD:1351886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559476 Fmc1 formation of mitochondrial complex V assembly factor 1 gene DOID:0080690 RASopathy ISO RGD:1606950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1559476 Fmc1 formation of mitochondrial complex V assembly factor 1 gene DOID:13548 secondary Parkinson disease ISO RGD:1606950 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 1559476 Fmc1 formation of mitochondrial complex V assembly factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606950 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559476 Fmc1 formation of mitochondrial complex V assembly factor 1 gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:1606950 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 1559479 Tpm2 tropomyosin 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605428 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868 1559479 Tpm2 tropomyosin 2 gene DOID:0080600 COVID-19 ISO RGD:1605428 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1559479 Tpm2 tropomyosin 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605428 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:7240710 20130221 OMIM 1559479 Tpm2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 4 | ClinVar Annotator: match by term: TPM2-related cap myopathy PMID:11738357|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23689010|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:33060286|PMID:34008892 1559479 Tpm2 tropomyosin 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1605428 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:19155175|PMID:27726070|PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:7240710 20130221 OMIM 1559479 Tpm2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:11738357|PMID:12592607|PMID:16199547|PMID:17194691|PMID:17339586|PMID:17576681|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:19155175|PMID:20301436|PMID:22084935|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23689010|PMID:23757202|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24214167|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:26752647|PMID:27726070|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:32092148|PMID:33060286|PMID:7977374|PMID:9536098 1559479 Tpm2 tropomyosin 2 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1605428 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:25741868 1559479 Tpm2 tropomyosin 2 gene DOID:3191 nemaline myopathy ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605428 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1559479 Tpm2 tropomyosin 2 gene DOID:630 genetic disease ISO RGD:1605428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:9001483 Distal Arthrogryposis Type 2B4 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 PMID:17339586|PMID:23678273|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:30285720|PMID:32092148 1559479 Tpm2 tropomyosin 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1605428 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1559479 Tpm2 tropomyosin 2 gene DOID:9870 galactosemia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1559493 Lexm lymphocyte expansion molecule gene DOID:630 genetic disease ISO RGD:1603553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559496 Sprtn SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:7240710 20150218 OMIM 1559496 Sprtn SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome PMID:12503110|PMID:25261934|PMID:25741868 1559496 Sprtn SprT-like N-terminal domain gene DOID:1540 parathyroid carcinoma ISO RGD:1605027 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559496 Sprtn SprT-like N-terminal domain gene DOID:3911 progeria ISO RGD:1605027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 1559496 Sprtn SprT-like N-terminal domain gene DOID:630 genetic disease ISO RGD:1605027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559496 Sprtn SprT-like N-terminal domain gene DOID:684 hepatocellular carcinoma ISO RGD:1605027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 1559496 Sprtn SprT-like N-terminal domain gene DOID:9002981 Genomic Instability ISO RGD:1605027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 1559496 Sprtn SprT-like N-terminal domain gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1559496 Sprtn SprT-like N-terminal domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605027 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559497 Trim65 tripartite motif-containing 65 gene DOID:630 genetic disease ISO RGD:1352380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559498 Nalf1 NALCN channel auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:2293495 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559498 Nalf1 NALCN channel auxiliary factor 1 gene DOID:7475 diverticulitis ISO RGD:2293495 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:28585551 1559498 Nalf1 NALCN channel auxiliary factor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2293495 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1559502 Ssmem1 serine-rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604235 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559502 Ssmem1 serine-rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559504 Ankrd39 ankyrin repeat domain 39 gene DOID:1059 intellectual disability ISO RGD:1602717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559504 Ankrd39 ankyrin repeat domain 39 gene DOID:5419 schizophrenia ISO RGD:1602717 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559504 Ankrd39 ankyrin repeat domain 39 gene DOID:630 genetic disease ISO RGD:1602717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559505 Tmem170a transmembrane protein 170A gene DOID:0110989 Joubert syndrome 20 ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 1559505 Tmem170a transmembrane protein 170A gene DOID:2565 macular corneal dystrophy ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 1559505 Tmem170a transmembrane protein 170A gene DOID:630 genetic disease ISO RGD:1604539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559509 Znf568l-ps1 zinc finger protein 568 like, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1342686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1604317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1604317 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604317 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:2729 dyskeratosis congenita ISO RGD:1604317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18523010|PMID:25741868|PMID:28492532 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:630 genetic disease ISO RGD:1604317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559511 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604317 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559517 Pabpc4l poly(A) binding protein, cytoplasmic 4-like gene DOID:630 genetic disease ISO RGD:2290032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559518 Ttbk1 tau tubulin kinase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1559518 Ttbk1 tau tubulin kinase 1 gene DOID:630 genetic disease ISO RGD:1350960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559518 Ttbk1 tau tubulin kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350960 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1559518 Ttbk1 tau tubulin kinase 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350960 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1559518 Ttbk1 tau tubulin kinase 1 gene DOID:905 Zellweger syndrome ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1559521 Dbndd2 dysbindin domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1313063 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1559521 Dbndd2 dysbindin domain containing 2 gene DOID:630 genetic disease ISO RGD:1313063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559521 Dbndd2 dysbindin domain containing 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1559521 Dbndd2 dysbindin domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559522 Fam186b family with sequence similarity 186, member B gene DOID:12712 nephronophthisis ISO RGD:1604773 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 1559522 Fam186b family with sequence similarity 186, member B gene DOID:630 genetic disease ISO RGD:1604773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559527 Boll boule homolog, RNA binding protein gene DOID:630 genetic disease ISO RGD:1352689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559527 Boll boule homolog, RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352689 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559527 Boll boule homolog, RNA binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1559529 Kctd21 potassium channel tetramerization domain containing 21 gene DOID:1059 intellectual disability ISO RGD:1603870 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559529 Kctd21 potassium channel tetramerization domain containing 21 gene DOID:630 genetic disease ISO RGD:1603870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559530 Nxf2 nuclear RNA export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626558 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559530 Nxf2 nuclear RNA export factor 2 gene DOID:12849 autistic disorder ISO RGD:1626558 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559530 Nxf2 nuclear RNA export factor 2 gene DOID:630 genetic disease ISO RGD:1626558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559535 Ccdc146 coiled-coil domain containing 146 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605975 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559535 Ccdc146 coiled-coil domain containing 146 gene DOID:630 genetic disease ISO RGD:1605975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559535 Ccdc146 coiled-coil domain containing 146 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605975 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:10450601|PMID:9171997 20160119 RGD DNA:deletion: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:10450605|PMID:18476590 20160119 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:1581019|PMID:12203785 19990101 RGD 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0070004 myeloid neoplasm ISO RGD:1345405 D RGD:10450608|PMID:9044825 20160119 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1559537 Etv6 ETS variant transcription factor 6 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735|PMID:25807284 1559537 Etv6 ETS variant transcription factor 6 gene DOID:1037 lymphoid leukemia ISO RGD:1345405 D RGD:10450724|PMID:9539781 20160120 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:1240 leukemia ISO RGD:1345405 D RGD:10450609|PMID:9326218 20160119 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:1588 thrombocytopenia ISO RGD:1345405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25581430|PMID:25807284 1559537 Etv6 ETS variant transcription factor 6 gene DOID:1588 thrombocytopenia ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25581430|PMID:25741868|PMID:26522332|PMID:27365488|PMID:28492532|PMID:31064749|PMID:32581362 1559537 Etv6 ETS variant transcription factor 6 gene DOID:2213 hemorrhagic disease ISO RGD:1345405 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1559537 Etv6 ETS variant transcription factor 6 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345405 D RGD:10450606|PMID:12181402 20160119 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:303 substance-related disorder ISO RGD:1345405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1559537 Etv6 ETS variant transcription factor 6 gene DOID:630 genetic disease ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559537 Etv6 ETS variant transcription factor 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9001067 Familial Macrocytosis ISO RGD:1345405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25807284 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:7240710 20170419 OMIM 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:15806161|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:29365323|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33179473|PMID:33226740|PMID:33768492|PMID:34355501|PMID:9694803 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:10450600|PMID:11319801 20160119 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25581430 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27895058|PMID:28492532|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33226740|PMID:33768492|PMID:9694803 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:10450601|PMID:9171997 20160119 RGD DNA:deletion: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:10450603|PMID:12161353 20160119 RGD DNA:translocation: : 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:1599805|PMID:10502316 20160119 RGD DNA:translocation: :t(5;12)(q31;p13) (human) 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:7240710 20130221 OMIM 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15806161|PMID:25581430|PMID:25741868|PMID:25807284|PMID:28492532|PMID:31248877|PMID:31704777|PMID:33226740|PMID:33768492 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345405 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 1559537 Etv6 ETS variant transcription factor 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345405 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1344696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:114 heart disease ISO RGD:1344696 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:3652 Leigh disease ISO RGD:1344696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1344696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISS RGD:1617578 D RGD:13592920 20201029 MouseDO OMIM:220110 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:409 liver disease ISO RGD:1344696 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:630 genetic disease ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344696 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17182746 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:9000822 Mitochondrial Complex IV Deficiency, Nuclear Type 4 ISO RGD:1344696 D RGD:7240710 20201111 OMIM 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:9000822 Mitochondrial Complex IV Deficiency, Nuclear Type 4 ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 PMID:11013136|PMID:11118289|PMID:16520371|PMID:17182746|PMID:19295170|PMID:23345593|PMID:23878101|PMID:24403053|PMID:25741868|PMID:28492532|PMID:29381136 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1344696 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864674 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868|PMID:28492532 1559538 Sco1 synthesis of cytochrome C oxidase 1 gene DOID:936 brain disease ISO RGD:1344696 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 1559541 Defb24 defensin beta 24 gene DOID:229 female reproductive system disease ISS RGD:1615624 D RGD:13592920 20230202 MouseDO 1559541 Defb24 defensin beta 24 gene DOID:630 genetic disease ISO RGD:1606419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559546 Wdr53 WD repeat domain 53 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1344468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1559546 Wdr53 WD repeat domain 53 gene DOID:12849 autistic disorder ISO RGD:1344468 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559546 Wdr53 WD repeat domain 53 gene DOID:5419 schizophrenia ISO RGD:1344468 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559546 Wdr53 WD repeat domain 53 gene DOID:630 genetic disease ISO RGD:1344468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559547 Cox18 cytochrome c oxidase assembly factor COX18 gene DOID:10003 sensorineural hearing loss ISO RGD:1604709 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1559547 Cox18 cytochrome c oxidase assembly factor COX18 gene DOID:630 genetic disease ISO RGD:1604709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559547 Cox18 cytochrome c oxidase assembly factor COX18 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1559548 Tmem232 transmembrane protein 232 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559548 Tmem232 transmembrane protein 232 gene DOID:630 genetic disease ISO RGD:3029048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559548 Tmem232 transmembrane protein 232 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3029048 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559548 Tmem232 transmembrane protein 232 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559552 Med1 mediator complex subunit 1 gene DOID:10283 prostate cancer ISO RGD:1351174 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1559552 Med1 mediator complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1351174 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1559552 Med1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:13513972|PMID:27548259 20180314 RGD 1559552 Med1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1617613 D RGD:13592920 20180518 MouseDO 1559552 Med1 mediator complex subunit 1 gene DOID:289 endometriosis ISO RGD:1351174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1559552 Med1 mediator complex subunit 1 gene DOID:6000 congestive heart failure ISS RGD:1617613 D RGD:13592920 20180518 MouseDO 1559552 Med1 mediator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1351174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1559552 Med1 mediator complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1351174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20007298 1559552 Med1 mediator complex subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16109766 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353807 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353807 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1353807 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:630 genetic disease ISO RGD:1353807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353807 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353807 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1559560 Pusl1 pseudouridine synthase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1559565 Efhd1 EF-hand domain family, member D1 gene DOID:0060476 Perlman syndrome ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1559565 Efhd1 EF-hand domain family, member D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350827 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1559565 Efhd1 EF-hand domain family, member D1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1559565 Efhd1 EF-hand domain family, member D1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350827 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1559565 Efhd1 EF-hand domain family, member D1 gene DOID:630 genetic disease ISO RGD:1350827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559565 Efhd1 EF-hand domain family, member D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1350827 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1559567 Cyb5d1 cytochrome b5 domain containing 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1559567 Cyb5d1 cytochrome b5 domain containing 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1603917 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1559567 Cyb5d1 cytochrome b5 domain containing 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1559567 Cyb5d1 cytochrome b5 domain containing 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1559567 Cyb5d1 cytochrome b5 domain containing 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1559567 Cyb5d1 cytochrome b5 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:0060224 atrial fibrillation ISO RGD:1353208 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:1059 intellectual disability ISO RGD:1353208 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:10907 microcephaly ISO RGD:1353208 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:1184 nephrotic syndrome ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:12849 autistic disorder ISO RGD:1353208 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:1826 epilepsy ISO RGD:1353208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:630 genetic disease ISO RGD:1353208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:9000495 Tremor ISO RGD:1353208 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1559576 Slc35f1 solute carrier family 35, member F1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353208 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24824130 1559589 Tent5d terminal nucleotidyltransferase 5D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348599 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559589 Tent5d terminal nucleotidyltransferase 5D gene DOID:12849 autistic disorder ISO RGD:1348599 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559589 Tent5d terminal nucleotidyltransferase 5D gene DOID:630 genetic disease ISO RGD:1348599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559594 Prdm6 PR/SET domain 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559594 Prdm6 PR/SET domain 6 gene DOID:13832 patent ductus arteriosus ISO RGD:1350258 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1559594 Prdm6 PR/SET domain 6 gene DOID:1682 congenital heart disease ISO RGD:1350258 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Heart, malformation of 1559594 Prdm6 PR/SET domain 6 gene DOID:630 genetic disease ISO RGD:1350258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559594 Prdm6 PR/SET domain 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350258 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559594 Prdm6 PR/SET domain 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559594 Prdm6 PR/SET domain 6 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1350258 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 1559594 Prdm6 PR/SET domain 6 gene DOID:9007470 Patent Ductus Arteriosus 3 ISO RGD:1350258 D RGD:7240710 20190315 OMIM 1559594 Prdm6 PR/SET domain 6 gene DOID:9007470 Patent Ductus Arteriosus 3 ISO RGD:1350258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 3 PMID:25741868|PMID:27181681 1559596 Cyp4f40 cytochrome P450, family 4, subfamily f, polypeptide 40 gene DOID:630 genetic disease ISO RGD:1349925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559601 Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein gene DOID:1059 intellectual disability ISO RGD:1349193 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559601 Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein gene DOID:630 genetic disease ISO RGD:1349193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559601 Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1559601 Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1559603 Mknk1 MAPK interacting serine/threonine kinase 1 gene DOID:303 substance-related disorder ISO RGD:1605115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1559603 Mknk1 MAPK interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1605115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559605 Amer2 APC membrane recruitment protein 2 gene DOID:630 genetic disease ISO RGD:1604720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559609 Wwtr1 WW domain containing transcription regulator 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1349820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1559609 Wwtr1 WW domain containing transcription regulator 1 gene DOID:12712 nephronophthisis ISS RGD:1617441 D RGD:13592920 20180518 MouseDO 1559609 Wwtr1 WW domain containing transcription regulator 1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1349820 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 1559609 Wwtr1 WW domain containing transcription regulator 1 gene DOID:630 genetic disease ISO RGD:1349820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559609 Wwtr1 WW domain containing transcription regulator 1 gene DOID:767 muscular atrophy ISO RGD:1349820 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24550007 1559612 Tigd2 tigger transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1348664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559612 Tigd2 tigger transposable element derived 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348664 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1559613 Smim17 small integral membrane protein 17 gene DOID:630 genetic disease ISO RGD:7205118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559616 Sidt1 SID1 transmembrane family, member 1 gene DOID:2843 long QT syndrome ISO RGD:1346888 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1559616 Sidt1 SID1 transmembrane family, member 1 gene DOID:630 genetic disease ISO RGD:1346888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559616 Sidt1 SID1 transmembrane family, member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346888 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:12177 common variable immunodeficiency ISO RGD:1603947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1603947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559617 Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1603947 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868 1559623 Tyw3 tRNA-yW synthesizing protein 3 homolog gene DOID:630 genetic disease ISO RGD:1603913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559637 Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1605227 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1559637 Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1605227 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 1559637 Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050817 Stargardt disease ISO RGD:1605227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:27428514|PMID:28492532 1559637 Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:7240710 20140911 OMIM 1559637 Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1F PMID:22673519|PMID:23246293|PMID:25741868|PMID:28492532 1559637 Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 gene DOID:630 genetic disease ISO RGD:1605227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1559641 Defb30 defensin beta 30 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307454 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:32748548 1559641 Defb30 defensin beta 30 gene DOID:630 genetic disease ISO RGD:2307454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559641 Defb30 defensin beta 30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307454 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351703 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351703 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351703 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:1059 intellectual disability ISO RGD:1351703 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:12849 autistic disorder ISO RGD:1351703 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:1599384|PMID:12917640 20070201 RGD 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:630 genetic disease ISO RGD:1351703 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30595499|PMID:32409512 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:7240710 20220209 OMIM 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:7240710 20140911 OMIM 1559642 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated 1559643 Mb21d2 Mab-21 domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1601820 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559643 Mb21d2 Mab-21 domain containing 2 gene DOID:630 genetic disease ISO RGD:1601820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559646 Klhl13 kelch-like family member 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342476 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559646 Klhl13 kelch-like family member 13 gene DOID:12849 autistic disorder ISO RGD:1342476 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559646 Klhl13 kelch-like family member 13 gene DOID:630 genetic disease ISO RGD:1342476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559651 Dcdc2c doublecortin domain containing 2C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:4144303 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 1559652 Nsun4 NOP2/Sun RNA methyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559653 Traf7 TNF receptor associated factor 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604273 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 1559653 Traf7 TNF receptor associated factor 7 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604273 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1559653 Traf7 TNF receptor associated factor 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1559653 Traf7 TNF receptor associated factor 7 gene DOID:1788 peritoneal mesothelioma ISO RGD:1604273 D RGD:151356964|PMID:30171198 20220221 RGD DNA:missense mutations:multiple 1559653 Traf7 TNF receptor associated factor 7 gene DOID:1790 malignant mesothelioma ISO RGD:1604273 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1559653 Traf7 TNF receptor associated factor 7 gene DOID:1826 epilepsy ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1559653 Traf7 TNF receptor associated factor 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604273 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1559653 Traf7 TNF receptor associated factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:1604273 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1559653 Traf7 TNF receptor associated factor 7 gene DOID:630 genetic disease ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 1559653 Traf7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1604273 D RGD:151356961|PMID:31730901 20220221 RGD mRNA:increased expression:liver 1559653 Traf7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1604273 D RGD:151356961|PMID:31730901 20220221 RGD 1559653 Traf7 TNF receptor associated factor 7 gene DOID:746 adenomatoid tumor ISO RGD:1604273 D RGD:151356962|PMID:29148537 20220221 RGD DNA:missense mutations:multiple 1559653 Traf7 TNF receptor associated factor 7 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604273 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1559653 Traf7 TNF receptor associated factor 7 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:151356968|PMID:30100091 20220221 RGD mRNA, protein:increased expression:spinal cord 1559653 Traf7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:7240710 20190315 OMIM 1559653 Traf7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome PMID:25741868|PMID:25961944|PMID:29961569|PMID:32376980|PMID:32399599 1559653 Traf7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | ClinVar Annotator: match by term: TRAF7-related syndrome PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 1559653 Traf7 TNF receptor associated factor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1559655 Il22ra1 interleukin 22 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1352751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559655 Il22ra1 interleukin 22 receptor subunit alpha 1 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1352751 D RGD:5147411|PMID:19393422 20110803 RGD DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) 1559655 Il22ra1 interleukin 22 receptor subunit alpha 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1352751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1605621 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605621 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:630 genetic disease ISO RGD:1605621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:9001928 Osteogenesis Imperfecta Type 22 ISO RGD:1605621 D RGD:7240710 20220406 OMIM 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:9001928 Osteogenesis Imperfecta Type 22 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:9002589 Bone Fractures ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 1559657 Ccdc134 coiled-coil domain containing 134 gene DOID:9007188 Liver Neoplasms ISO RGD:1605621 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603985 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1603985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559660 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603985 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559663 St6gal2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1348221 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559663 St6gal2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559673 Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1559673 Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1604590 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559673 Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:630 genetic disease ISO RGD:1604590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559678 Nrg3 neuregulin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1317640 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 1559678 Nrg3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20713722 1559678 Nrg3 neuregulin 3 gene DOID:630 genetic disease ISO RGD:1317640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559682 Ppial4g peptidylprolyl isomerase A like 4G gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:2301115 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1559682 Ppial4g peptidylprolyl isomerase A like 4G gene DOID:1540 parathyroid carcinoma ISO RGD:2301115 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559682 Ppial4g peptidylprolyl isomerase A like 4G gene DOID:5419 schizophrenia ISO RGD:2301115 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559682 Ppial4g peptidylprolyl isomerase A like 4G gene DOID:630 genetic disease ISO RGD:2301115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559682 Ppial4g peptidylprolyl isomerase A like 4G gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2301115 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559683 Cimip2c ciliary microtubule inner protein 2C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:2298820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1559684 Zfp458 zinc finger protein 458 gene DOID:630 genetic disease ISO RGD:1349254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559690 Ddias DNA damage-induced apoptosis suppressor gene DOID:1059 intellectual disability ISO RGD:1602966 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559690 Ddias DNA damage-induced apoptosis suppressor gene DOID:630 genetic disease ISO RGD:1602966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559693 Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1559693 Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1559693 Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1559693 Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1559693 Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1606182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559694 Dipk1c divergent protein kinase domain 1C gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353681 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1559694 Dipk1c divergent protein kinase domain 1C gene DOID:630 genetic disease ISO RGD:1353681 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559694 Dipk1c divergent protein kinase domain 1C gene DOID:6420 pulmonary valve stenosis ISO RGD:1353681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1559694 Dipk1c divergent protein kinase domain 1C gene DOID:8445 intestinal volvulus ISO RGD:1353681 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1559694 Dipk1c divergent protein kinase domain 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353681 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559694 Dipk1c divergent protein kinase domain 1C gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353681 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1559695 Mroh5 maestro heat-like repeat family member 5 gene DOID:630 genetic disease ISO RGD:1602032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559697 Foxp2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:11535982|PMID:24356376 20160927 RGD DNA:SNPs, haplotypes: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1559697 Foxp2 forkhead box P2 gene DOID:0060135 apraxia ISO RGD:1351861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17033973|PMID:27120335 1559697 Foxp2 forkhead box P2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:11070093|PMID:16984964 20160927 RGD DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human) 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:11072822|PMID:11586359 20160928 RGD DNA:missense mutation:exon:p.R553H (human) 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:11526702|PMID:17033973 20160927 RGD DNA:deletions: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:11526862|PMID:15877281 20160927 RGD DNA:mutations:5' utr, exon, intron:multiple 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:7240710 20130221 OMIM 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:11586359|PMID:15877281|PMID:16470794|PMID:16984964|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22434823|PMID:22766611|PMID:2332125|PMID:23918746|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532|PMID:28708303 1559697 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 no_association ISO RGD:1351861 D RGD:11536000|PMID:19352412 20160928 RGD DNA:missense mutation: :p.P215A (human) 1559697 Foxp2 forkhead box P2 gene DOID:1059 intellectual disability ISO RGD:1351861 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1559697 Foxp2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351861 D RGD:11535980|PMID:22504457 20160927 RGD DNA:SNPs, haplotype: :rs1229761, rs12533005 (human) 1559697 Foxp2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:1351861 D RGD:11535980|PMID:22504457 20160927 RGD DNA:SNPs: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:11535986|PMID:15108192 20160927 RGD DNA:SNPs, haplotype 1559697 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:11535991|PMID:15737702 20160928 RGD DNA:SNP:intron 1559697 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108192|PMID:17033973 1559697 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:11535984|PMID:15998549 20160927 RGD 1559697 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:11535985|PMID:12655497 20160927 RGD DNA:polymorphisms: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:11536001|PMID:12116195 20160928 RGD DNA:repeat, deletion 1559697 Foxp2 forkhead box P2 gene DOID:14681 Silver-Russell syndrome ISO RGD:1351861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 1559697 Foxp2 forkhead box P2 gene DOID:1470 major depressive disorder ISO RGD:1351861 D RGD:11535994|PMID:22404659 20160928 RGD DNA:SNP: :rs10447760 (human) 1559697 Foxp2 forkhead box P2 gene DOID:1470 major depressive disorder no_association ISO RGD:1351861 D RGD:11535994|PMID:22404659 20160928 RGD DNA:SNPs: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:1749 squamous cell carcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1559697 Foxp2 forkhead box P2 gene DOID:3910 lung adenocarcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1559697 Foxp2 forkhead box P2 gene DOID:4186 articulation disorder ISO RGD:1351861 D RGD:11535989|PMID:20923434 20160927 RGD DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human) 1559697 Foxp2 forkhead box P2 gene DOID:4186 articulation disorder no_association ISO RGD:1351861 D RGD:11535989|PMID:20923434 20160927 RGD DNA:SNPs::rs923875, rs17137124, rs1456031 (human) 1559697 Foxp2 forkhead box P2 gene DOID:4428 dyslexia ISO RGD:1351861 D RGD:11535997|PMID:21897444 20160928 RGD DNA:SNP: :rs12533005 (human) 1559697 Foxp2 forkhead box P2 gene DOID:4428 dyslexia no_association ISO RGD:1351861 D RGD:11535997|PMID:21897444 20160928 RGD DNA:SNPs: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351861 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559697 Foxp2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:11535988|PMID:16538183 20160927 RGD DNA:SNPs, haplotype: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:11535994|PMID:22404659 20160928 RGD DNA:SNP: :rs10447760 (human) 1559697 Foxp2 forkhead box P2 gene DOID:5419 schizophrenia no_association ISO RGD:1351861 D RGD:11535994|PMID:22404659 20160928 RGD DNA:SNPs: :multiple 1559697 Foxp2 forkhead box P2 gene DOID:630 genetic disease ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532 1559697 Foxp2 forkhead box P2 gene DOID:9001488 Human Influenza ISO RGD:1615752 D RGD:11536002|PMID:18248790 20160928 RGD 1559697 Foxp2 forkhead box P2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351861 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559697 Foxp2 forkhead box P2 gene DOID:9005466 Language Development Disorders ISO RGD:1351861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 1559697 Foxp2 forkhead box P2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 1559697 Foxp2 forkhead box P2 gene DOID:93 language disorder ISO RGD:1351861 D RGD:11535993|PMID:20649982 20160928 RGD associated with Schizophrenia;DNA:SNP: :rs2253478 (human) 1559698 Sik2 salt-inducible kinase 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1559698 Sik2 salt-inducible kinase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1346987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1559698 Sik2 salt-inducible kinase 2 gene DOID:1059 intellectual disability ISO RGD:1346987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559698 Sik2 salt-inducible kinase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1346987 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1559698 Sik2 salt-inducible kinase 2 gene DOID:630 genetic disease ISO RGD:1346987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559698 Sik2 salt-inducible kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346987 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 1559698 Sik2 salt-inducible kinase 2 gene DOID:9000918 Disease Progression ISO RGD:1346987 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 1559698 Sik2 salt-inducible kinase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346987 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1559698 Sik2 salt-inducible kinase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1559709 Fbxo47 F-box protein 47 gene DOID:630 genetic disease ISO RGD:1606618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351229 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351229 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351229 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351229 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:12849 autistic disorder ISO RGD:1351229 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:14228 oligospermia ISO RGD:1351229 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Oligospermia 1559711 Tbc1d25 TBC1 domain family, member 25 gene DOID:630 genetic disease ISO RGD:1351229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559712 Pdcl2 phosducin-like 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1344096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1559712 Pdcl2 phosducin-like 2 gene DOID:630 genetic disease ISO RGD:1344096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:0060478 Zika fever ISO RGD:1558600 D RGD:32733625|PMID:30241539 20200701 RGD 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605125 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:1826 epilepsy ISO RGD:1605125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19558813 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:2377 multiple sclerosis ISO RGD:1605125 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:630 genetic disease ISO RGD:1605125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605125 D RGD:14694974|PMID:20165882 20200701 RGD DNA:hypomethylation: CpG islands: 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:8557 oropharynx cancer disease_progression ISO RGD:1605125 D RGD:32716423|PMID:31187548 20200630 RGD 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1605125 D RGD:32716425|PMID:26234401 20200630 RGD mRNA, protein:decreased expression:liver 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:35316073|PMID:30226536 20200708 RGD 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment IMP D RGD:34901873|PMID:29169414 20200707 RGD 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605125 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002488 Peritoneal Fibrosis treatment IMP D RGD:32733624|PMID:31836774 20200701 RGD 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1605125 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004283 Transplant Rejection treatment IEP D RGD:35316072|PMID:31828147 20200708 RGD 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:34901874|PMID:30465396 20200707 RGD associated with Crush Injuries 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605125 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 1559716 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD 1559717 Sbspon somatomedin B and thrombospondin, type 1 domain containing gene DOID:630 genetic disease ISO RGD:1602645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559717 Sbspon somatomedin B and thrombospondin, type 1 domain containing gene DOID:9005369 Hepatomegaly ISO RGD:1602645 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1559720 Cisd3 CDGSH iron sulfur domain 3 gene DOID:630 genetic disease ISO RGD:1626692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559721 Ifi27l2b interferon, alpha-inducible protein 27 like 2B gene DOID:0080054 achondrogenesis type IA ISO RGD:1344421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1559721 Ifi27l2b interferon, alpha-inducible protein 27 like 2B gene DOID:0080600 COVID-19 ISO RGD:1344421 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1559721 Ifi27l2b interferon, alpha-inducible protein 27 like 2B gene DOID:0081063 DICER1 syndrome ISO RGD:1344421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1559721 Ifi27l2b interferon, alpha-inducible protein 27 like 2B gene DOID:630 genetic disease ISO RGD:1344421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559723 Sspn sarcospan gene DOID:0060224 atrial fibrillation ISO RGD:1347504 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1559723 Sspn sarcospan gene DOID:630 genetic disease ISO RGD:1347504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559723 Sspn sarcospan gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:1347504 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 1559727 Lhfpl3 LHFPL tetraspan subfamily member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349891 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559727 Lhfpl3 LHFPL tetraspan subfamily member 3 gene DOID:630 genetic disease ISO RGD:1349891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1343794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21264219|PMID:21283809 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343794 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:0080006 bone development disease ISO RGD:1343794 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:12849 autistic disorder ISO RGD:1343794 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1343794 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343794 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1343794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21264219 1559731 Dipk2b divergent protein kinase domain 2B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343794 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 1559732 Btnl10 butyrophilin like 10 gene DOID:1540 parathyroid carcinoma ISO RGD:6480792 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559732 Btnl10 butyrophilin like 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:6480792 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559733 Tdrp testis development related protein gene DOID:630 genetic disease ISO RGD:1602978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559740 Cnih4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606011 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559740 Cnih4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:630 genetic disease ISO RGD:1606011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559740 Cnih4 cornichon family AMPA receptor auxiliary protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606011 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559742 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559742 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:1909 melanoma ISO RGD:1605109 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 1559742 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:630 genetic disease ISO RGD:1605109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559742 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605109 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559742 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559753 Lrrc37a leucine rich repeat containing 37A gene DOID:10283 prostate cancer ISO RGD:1605801 D RGD:8554872 20190122 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1559753 Lrrc37a leucine rich repeat containing 37A gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605801 D RGD:8554872 20190122 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 1559753 Lrrc37a leucine rich repeat containing 37A gene DOID:630 genetic disease ISO RGD:1605801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559755 Rpf1 ribosome production factor 1 gene DOID:630 genetic disease ISO RGD:1602209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559756 Tll2 tolloid-like 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1312462 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25741868 1559756 Tll2 tolloid-like 2 gene DOID:630 genetic disease ISO RGD:1312462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559758 Defb18 defensin beta 18 gene DOID:630 genetic disease ISO RGD:1346729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559759 Rp9 RP9, pre-mRNA splicing factor gene DOID:0110387 retinitis pigmentosa 9 ISO RGD:1342620 D RGD:7240710 20130425 OMIM 1559759 Rp9 RP9, pre-mRNA splicing factor gene DOID:0110387 retinitis pigmentosa 9 ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 9 PMID:12032732|PMID:1479605|PMID:15474994|PMID:15541726|PMID:16671097|PMID:16799052|PMID:17110909|PMID:23647439|PMID:25741868|PMID:28492532|PMID:8025041|PMID:8513323 1559759 Rp9 RP9, pre-mRNA splicing factor gene DOID:10584 retinitis pigmentosa ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12032732|PMID:1479605|PMID:15474994|PMID:15541726|PMID:16671097|PMID:17110909|PMID:23647439|PMID:25741868|PMID:28492532 1559759 Rp9 RP9, pre-mRNA splicing factor gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:28492532 1559759 Rp9 RP9, pre-mRNA splicing factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342620 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559759 Rp9 RP9, pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1342620 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346145 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346145 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1559760 Bhlhe23 basic helix-loop-helix family, member e23 gene DOID:630 genetic disease ISO RGD:1346145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1346246 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:151232290|PMID:25586593 20220113 RGD DNA:missense mutation:multiple (human) 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:151232291|PMID:28942350 20220114 RGD DNA:missense mutation:multiple (human) 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:151232292|PMID:22343920 20220114 RGD DNA:missense mutations:multiple (human) 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:151347177|PMID:28220884 20220118 RGD 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346246 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:12849 autistic disorder ISO RGD:1346246 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:13636 Fanconi anemia ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:4621 holoprosencephaly ISO RGD:1346246 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25679214|PMID:25741868|PMID:31680349 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:630 genetic disease ISO RGD:1346246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:1346246 D RGD:151347177|PMID:28220884 20220118 RGD 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:1346246 D RGD:151232291|PMID:28942350 20220114 RGD DNA:missense mutation:multiple (human) 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346246 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:151232299|PMID:25550361 20220117 RGD DNA:missense mutations:multiple (human) 1559763 Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:151347178|PMID:32027246 20220118 RGD associated with aging 1559764 Tssk6 testis-specific serine kinase 6 gene DOID:630 genetic disease ISO RGD:1605019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559774 Zmat5 zinc finger, matrin type 5 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1607019 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1559774 Zmat5 zinc finger, matrin type 5 gene DOID:630 genetic disease ISO RGD:1607019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559774 Zmat5 zinc finger, matrin type 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607019 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 1559779 Ccdc54 coiled-coil domain containing 54 gene DOID:630 genetic disease ISO RGD:1606758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559783 Idi2 isopentenyl-diphosphate delta isomerase 2 gene DOID:630 genetic disease ISO RGD:1317828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559786 Czib CXXC motif containing zinc binding protein gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:1603028 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency 1559787 Srf serum response factor gene DOID:0050444 infantile Refsum disease ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1559787 Srf serum response factor gene DOID:0050700 cardiomyopathy ISO RGD:1321393 D RGD:1581473|PMID:12874181 19990101 RGD 1559787 Srf serum response factor gene DOID:10763 hypertension IDA D RGD:1580749|PMID:16822834 19990101 RGD 1559787 Srf serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:1580754|PMID:16260633 19990101 RGD 1559787 Srf serum response factor gene DOID:12930 dilated cardiomyopathy ISS RGD:1321394 D RGD:13592920 20180518 MouseDO 1559787 Srf serum response factor gene DOID:14566 disease of cellular proliferation ISO RGD:1321393 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17116645 1559787 Srf serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321394 D RGD:1580753|PMID:12654640 19990101 RGD 1559787 Srf serum response factor gene DOID:4989 pancreatitis ISO RGD:1321394 D RGD:1581427|PMID:16894357 19990101 RGD 1559787 Srf serum response factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1559787 Srf serum response factor gene DOID:6000 congestive heart failure ISO RGD:1321393 D RGD:1581426|PMID:11893590 19990101 RGD mRNA, protein:splice variant:heart 1559787 Srf serum response factor gene DOID:630 genetic disease ISO RGD:1321393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559787 Srf serum response factor gene DOID:684 hepatocellular carcinoma IDA D RGD:1581428|PMID:9570363 19990101 RGD 1559787 Srf serum response factor gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321394 D RGD:1581424|PMID:15569937 19990101 RGD 1559787 Srf serum response factor gene DOID:9003936 Cardiomegaly ISO RGD:1321393 D RGD:1581425|PMID:12909581 19990101 RGD 1559787 Srf serum response factor gene DOID:905 Zellweger syndrome ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1559791 Mtx1 Metaxin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1559791 Mtx1 Metaxin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1559791 Mtx1 Metaxin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1559791 Mtx1 Metaxin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1559791 Mtx1 Metaxin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351611 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559791 Mtx1 Metaxin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1559791 Mtx1 Metaxin 1 gene DOID:630 genetic disease ISO RGD:1351611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559791 Mtx1 Metaxin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351611 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559792 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:630 genetic disease ISO RGD:1606393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559792 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:26845104|PMID:28492532|PMID:9536098 1559792 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9008939 Breast Neoplasms ISO RGD:1606393 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532 1559792 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9256 colorectal cancer ISO RGD:1606393 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 1559797 Eva1a eva-1 homolog A, regulator of programmed cell death gene DOID:630 genetic disease ISO RGD:1604577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559800 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1559800 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:630 genetic disease ISO RGD:1604329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559800 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1559800 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9270 alkaptonuria ISO RGD:1604329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1559803 Mro maestro gene DOID:1059 intellectual disability ISO RGD:1342837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559803 Mro maestro gene DOID:630 genetic disease ISO RGD:1342837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559803 Mro maestro gene DOID:684 hepatocellular carcinoma ISO RGD:1342837 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1559803 Mro maestro gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559804 RGD1559804 similar to hypothetical protein 4930474N05 gene DOID:12849 autistic disorder ISO RGD:2298814 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559804 RGD1559804 similar to hypothetical protein 4930474N05 gene DOID:630 genetic disease ISO RGD:2298814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1348843 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0080690 RASopathy ISO RGD:1348843 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348843 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1348843 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:5419 schizophrenia ISO RGD:1348843 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:630 genetic disease ISO RGD:1348843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348843 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1559807 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:9007661 Dwarfism ISO RGD:1348843 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1559811 Ccdc70 coiled-coil domain containing 70 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603195 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1559811 Ccdc70 coiled-coil domain containing 70 gene DOID:1059 intellectual disability ISO RGD:1603195 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559811 Ccdc70 coiled-coil domain containing 70 gene DOID:630 genetic disease ISO RGD:1603195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559811 Ccdc70 coiled-coil domain containing 70 gene DOID:893 Wilson disease ISO RGD:1603195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 1559814 Pes1 pescadillo ribosomal biogenesis factor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345815 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34845814 1559814 Pes1 pescadillo ribosomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1345815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559817 Ppp4r3c protein phosphatase 4 regulatory subunit 3C gene DOID:12849 autistic disorder ISO RGD:1602982 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559817 Ppp4r3c protein phosphatase 4 regulatory subunit 3C gene DOID:684 hepatocellular carcinoma ISO RGD:1602982 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1559818 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1559818 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:630 genetic disease ISO RGD:1605319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559818 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:9008582 Developmental Disease ISO RGD:1605319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1559824 Nacad NAC alpha domain containing gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1625090 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:17160895|PMID:28492532 1559824 Nacad NAC alpha domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1625090 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559824 Nacad NAC alpha domain containing gene DOID:630 genetic disease ISO RGD:1625090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559826 Nectin4 nectin cell adhesion molecule 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1559826 Nectin4 nectin cell adhesion molecule 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347607 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559826 Nectin4 nectin cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1347607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559826 Nectin4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:7240710 20130221 OMIM 1559826 Nectin4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 PMID:20691405|PMID:21346770|PMID:24577405|PMID:25529316|PMID:25741868|PMID:28492532 1559826 Nectin4 nectin cell adhesion molecule 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347607 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:0060476 Perlman syndrome ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:10283 prostate cancer ISO RGD:1348516 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:14566 disease of cellular proliferation ISO RGD:1348516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27423937 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:4195 hyperglycemia ISO RGD:1348516 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:630 genetic disease ISO RGD:1348516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:9004657 Weight Gain ISO RGD:1348516 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 1559828 Gpr55 G protein-coupled receptor 55 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348516 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 1559829 Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:0050553 JMP syndrome ISO RGD:1601978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25735484|PMID:25741868 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352466 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:7240710 20220420 OMIM 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA PMID:25644381|PMID:25735484|PMID:25741868|PMID:29728705|PMID:29742418 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:10283 prostate cancer ISO RGD:1352466 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:12849 autistic disorder ISO RGD:1352466 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:630 genetic disease ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25644381|PMID:25735484|PMID:29728705|PMID:29742418|PMID:33255631 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352466 D RGD:11554173 20220419 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 1559832 Rlim ring finger protein, LIM domain interacting gene DOID:9008086 Developmental Disabilities ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25735484|PMID:25741868 1559836 Rmdn2 regulator of microtubule dynamics 2 gene DOID:0080690 RASopathy ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1559836 Rmdn2 regulator of microtubule dynamics 2 gene DOID:3883 Lynch syndrome ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1559836 Rmdn2 regulator of microtubule dynamics 2 gene DOID:630 genetic disease ISO RGD:1605570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559836 Rmdn2 regulator of microtubule dynamics 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559841 Tango6 transport and golgi organization 6 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1559841 Tango6 transport and golgi organization 6 homolog gene DOID:2661 myoepithelioma ISO RGD:1606243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1559841 Tango6 transport and golgi organization 6 homolog gene DOID:630 genetic disease ISO RGD:1606243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559850 Zfp637 zinc finger protein 637 gene DOID:630 genetic disease ISO RGD:1350572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559851 Hexim1 HEXIM P-TEFb complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559851 Hexim1 HEXIM P-TEFb complex subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1352832 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 15 PMID:25899990 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 12 PMID:25062452|PMID:32917591 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:13938 amenorrhea ISO RGD:1352832 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1559853 Syce1 synaptonemal complex central element protein 1 gene DOID:630 genetic disease ISO RGD:1352832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559856 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559856 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:630 genetic disease ISO RGD:1320838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559856 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320838 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559856 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1559857 Ahrr aryl-hydrocarbon receptor repressor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348641 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1559857 Ahrr aryl-hydrocarbon receptor repressor gene DOID:10283 prostate cancer ISO RGD:1348641 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1559857 Ahrr aryl-hydrocarbon receptor repressor gene DOID:630 genetic disease ISO RGD:1348641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559857 Ahrr aryl-hydrocarbon receptor repressor gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1348641 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1559861 Vmo1 vitelline membrane outer layer 1 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1605251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1559861 Vmo1 vitelline membrane outer layer 1 homolog gene DOID:630 genetic disease ISO RGD:1605251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559862 Wdr93 WD repeat domain 93 gene DOID:0060041 autism spectrum disorder ISO RGD:1604328 D RGD:8554872 20170404 ClinVar ClinVar Annotator: match by term: Autistic spectrum disorder with isolated skills PMID:25558065 1559862 Wdr93 WD repeat domain 93 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1559862 Wdr93 WD repeat domain 93 gene DOID:2717 Bloom syndrome ISO RGD:1604328 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1559862 Wdr93 WD repeat domain 93 gene DOID:630 genetic disease ISO RGD:1604328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559862 Wdr93 WD repeat domain 93 gene DOID:9256 colorectal cancer ISO RGD:1604328 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342853 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:0080942 anauxetic dysplasia ISO RGD:1342853 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1342853 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:3007 breast ductal carcinoma ISO RGD:1342853 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1559864 Phf24 PHD finger protein 24 gene DOID:630 genetic disease ISO RGD:1342853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559864 Phf24 PHD finger protein 24 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1342853 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1559864 Phf24 PHD finger protein 24 gene DOID:9870 galactosemia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1559869 Lyzl1 lysozyme-like 1 gene DOID:630 genetic disease ISO RGD:1350038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559872 Erich1 glutamate-rich 1 gene DOID:630 genetic disease ISO RGD:1602977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24901346|PMID:25049390|PMID:25124994|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26518681|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30732632|PMID:30898653|PMID:31219622|PMID:31292302|PMID:32396283|PMID:8462668 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:7240710 20140911 OMIM 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:17576681|PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26518681|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28347726|PMID:28492532|PMID:28554332|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30684668|PMID:30692697|PMID:30712878|PMID:30732632|PMID:30872527|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:31463572|PMID:31573083|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668|PMID:9536098 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0080690 RASopathy ISO RGD:1343782 D RGD:11086309|PMID:26714497 20221028 RGD DNA:missense mutation:exon:multiple 9human) 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0080690 RASopathy ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343782 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:1856 cherubism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1316972 D RGD:151667911|PMID:30872527 20221028 RGD 1559874 Rit1 Ras-like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1316972 D RGD:155631269|PMID:30898653 20221028 RGD 1559874 Rit1 Ras-like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:11086309|PMID:26714497 20221028 RGD DNA:missense mutation:exon:multiple 9human) 1559874 Rit1 Ras-like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:11096563|PMID:25049390 20221028 RGD DNA:missense mutations:exon:multiple (human) 1559874 Rit1 Ras-like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:11097409|PMID:26757980 20221028 RGD DNA:missense mutations:exon:multiple (human) 1559874 Rit1 Ras-like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 1559874 Rit1 Ras-like without CAAX 1 gene DOID:5812 MHC class II deficiency ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:630 genetic disease ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29734338|PMID:30692697|PMID:30732632|PMID:30872527|PMID:8462668 1559874 Rit1 Ras-like without CAAX 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1343782 D RGD:152999016|PMID:31247273 20220718 RGD human cells in mouse model 1559874 Rit1 Ras-like without CAAX 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1343782 D RGD:152999018|PMID:30348939 20220719 RGD associated with esophagus squamous cell carcinoma; human cells in mouse model 1559874 Rit1 Ras-like without CAAX 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559874 Rit1 Ras-like without CAAX 1 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION PMID:24469055|PMID:25741868|PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:9003133 Hypertelorism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338 1559874 Rit1 Ras-like without CAAX 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:23791108|PMID:24469055|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532 1559874 Rit1 Ras-like without CAAX 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343782 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559875 Heatr9 HEAT repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559878 Camp cathelicidin antimicrobial peptide gene DOID:0080600 COVID-19 ISO RGD:1343513 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1559878 Camp cathelicidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:1343513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559878 Camp cathelicidin antimicrobial peptide gene DOID:8881 rosacea ISO RGD:1343513 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 1559878 Camp cathelicidin antimicrobial peptide gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:2316237|PMID:19879657 20100202 RGD protein:increased expression:brain, coronal section (rat) 1559878 Camp cathelicidin antimicrobial peptide gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1559878 Camp cathelicidin antimicrobial peptide gene DOID:9004484 Sepsis IMP D RGD:2316243|PMID:17142779 20100202 RGD 1559878 Camp cathelicidin antimicrobial peptide gene DOID:9006976 Erythema ISO RGD:1343513 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 1559879 Ak9 adenylate kinase 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1559879 Ak9 adenylate kinase 9 gene DOID:630 genetic disease ISO RGD:1354002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559882 Arhgap28 Rho GTPase activating protein 28 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347841 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1559882 Arhgap28 Rho GTPase activating protein 28 gene DOID:1059 intellectual disability ISO RGD:1347841 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559882 Arhgap28 Rho GTPase activating protein 28 gene DOID:289 endometriosis ISO RGD:1347841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1559882 Arhgap28 Rho GTPase activating protein 28 gene DOID:630 genetic disease ISO RGD:1347841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559883 Defb13 defensin beta 13 gene DOID:630 genetic disease ISO RGD:1602611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559884 Plekhs1 pleckstrin homology domain containing S1 gene DOID:10603 glucose intolerance IEP D RGD:11532750|PMID:27523322 20160906 RGD associated with obesity; 1559884 Plekhs1 pleckstrin homology domain containing S1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 1559884 Plekhs1 pleckstrin homology domain containing S1 gene DOID:630 genetic disease ISO RGD:1344870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559884 Plekhs1 pleckstrin homology domain containing S1 gene DOID:9007692 Insulin Resistance IEP D RGD:11532750|PMID:27523322 20160906 RGD associated with obesity; 1559885 Prrt4 proline-rich transmembrane protein 4 gene DOID:0080600 COVID-19 ISO RGD:3051273 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1559885 Prrt4 proline-rich transmembrane protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3051273 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559885 Prrt4 proline-rich transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:3051273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559891 RGD1559891 similar to synaptonemal complex protein 3 gene DOID:0050777 Joubert syndrome ISO RGD:1345371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 1559891 RGD1559891 similar to synaptonemal complex protein 3 gene DOID:12849 autistic disorder ISO RGD:1345371 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559891 RGD1559891 similar to synaptonemal complex protein 3 gene DOID:630 genetic disease ISO RGD:1345371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559891 RGD1559891 similar to synaptonemal complex protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345371 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559895 Mettl17 methyltransferase like 17 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1601980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1559895 Mettl17 methyltransferase like 17 gene DOID:630 genetic disease ISO RGD:1601980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559895 Mettl17 methyltransferase like 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1559896 C19h1orf198 similar to human chromosome 1 open reading frame 198 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1559896 C19h1orf198 similar to human chromosome 1 open reading frame 198 gene DOID:1540 parathyroid carcinoma ISO RGD:1602995 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559896 C19h1orf198 similar to human chromosome 1 open reading frame 198 gene DOID:630 genetic disease ISO RGD:1602995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559896 C19h1orf198 similar to human chromosome 1 open reading frame 198 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1559896 C19h1orf198 similar to human chromosome 1 open reading frame 198 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602995 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559897 Oscar osteoclast associated Ig-like receptor gene DOID:630 genetic disease ISO RGD:1603587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559899 Clec18a C-type lectin domain family 18, member A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1559899 Clec18a C-type lectin domain family 18, member A gene DOID:630 genetic disease ISO RGD:1601919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559901 Mrps11 mitochondrial ribosomal protein S11 gene DOID:2717 Bloom syndrome ISO RGD:1350817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1559901 Mrps11 mitochondrial ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:1350817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559901 Mrps11 mitochondrial ribosomal protein S11 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1559901 Mrps11 mitochondrial ribosomal protein S11 gene DOID:9000918 Disease Progression ISO RGD:1350817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1559901 Mrps11 mitochondrial ribosomal protein S11 gene DOID:9256 colorectal cancer ISO RGD:1350817 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1559904 Virma vir like m6A methyltransferase associated gene DOID:630 genetic disease ISO RGD:1603673 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559905 Morc4 MORC family CW-type zinc finger 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1559905 Morc4 MORC family CW-type zinc finger 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345473 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559905 Morc4 MORC family CW-type zinc finger 4 gene DOID:12849 autistic disorder ISO RGD:1345473 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559905 Morc4 MORC family CW-type zinc finger 4 gene DOID:630 genetic disease ISO RGD:1345473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559909 C5h1orf122 similar to human chromosome 1 open reading frame 122 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606463 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1559909 C5h1orf122 similar to human chromosome 1 open reading frame 122 gene DOID:630 genetic disease ISO RGD:1606463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559909 C5h1orf122 similar to human chromosome 1 open reading frame 122 gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606463 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669 1559918 Hoxb7 homeo box B7 gene DOID:3008 invasive ductal carcinoma ISO RGD:1349103 D RGD:10402178|PMID:17018609 20151019 RGD mRNA:increased expression:breast epithelium (human) 1559918 Hoxb7 homeo box B7 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1349103 D RGD:10402177|PMID:26076456 20151019 RGD protein:increased expression:esophageal mucosa (human) 1559918 Hoxb7 homeo box B7 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1349103 D RGD:10402176|PMID:22911672 20151019 RGD protein:increased expression:lung epithelium (human) 1559918 Hoxb7 homeo box B7 gene DOID:630 genetic disease ISO RGD:1349103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1601761 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1601761 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1601761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1601761 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1559919 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9870 galactosemia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1559923 Naa30 N(alpha)-acetyltransferase 30, NatC catalytic subunit gene DOID:630 genetic disease ISO RGD:1346528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559926 Gpr142 G protein-coupled receptor 142 gene DOID:630 genetic disease ISO RGD:1352818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559927 Hmx3 H6 family homeobox 3 gene DOID:630 genetic disease ISO RGD:1603243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559928 Slc25a43 solute carrier family 25, member 43 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605262 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1559928 Slc25a43 solute carrier family 25, member 43 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1559928 Slc25a43 solute carrier family 25, member 43 gene DOID:12849 autistic disorder ISO RGD:1605262 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559928 Slc25a43 solute carrier family 25, member 43 gene DOID:630 genetic disease ISO RGD:1605262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559930 Secisbp2l SECIS binding protein 2-like gene DOID:2717 Bloom syndrome ISO RGD:1605418 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1559930 Secisbp2l SECIS binding protein 2-like gene DOID:630 genetic disease ISO RGD:1605418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559930 Secisbp2l SECIS binding protein 2-like gene DOID:9005172 Lung Neoplasms ISO RGD:1605418 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 1559930 Secisbp2l SECIS binding protein 2-like gene DOID:9256 colorectal cancer ISO RGD:1605418 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1559931 Ankrd28 ankyrin repeat domain 28 gene DOID:0060417 3p deletion syndrome ISO RGD:1343361 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1559931 Ankrd28 ankyrin repeat domain 28 gene DOID:630 genetic disease ISO RGD:1343361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559936 Kif19 kinesin family member 19 gene DOID:630 genetic disease ISO RGD:1603919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559936 Kif19 kinesin family member 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351490 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1351490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:7240710 20171011 OMIM 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 PMID:16199547|PMID:17576681|PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:30300419|PMID:31650533|PMID:9536098 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:14264 benign neonatal seizures ISO RGD:1351490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:2377 multiple sclerosis ISO RGD:1351490 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to PMID:25741868|PMID:28492532 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:5223 infertility ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532|PMID:30300419 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:630 genetic disease ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:758 situs inversus ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 1559937 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:11554173 20221011 CTD CTD Direct Evidence: marker/mechanism 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1346322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9398847|PMID:9398848|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:7240710 20190306 OMIM 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:7240710 20171011 OMIM 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080918 polymicrogyria ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28492532 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:7240710 20221005 OMIM 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1346322 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:12402331|PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1346322 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:1826 epilepsy ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346322 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28397838|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34513757|PMID:9398847|PMID:9398848 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:8501 fundus dystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28468868|PMID:28492532|PMID:30362618|PMID:31374812|PMID:31831025|PMID:9398847|PMID:9398848 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9539740|PMID:10447258|PMID:26319495 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1557211 D RGD:25671425|PMID:24503136 20200427 RGD DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse) 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1557211 D RGD:25671426|PMID:31207289 20200427 RGD DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse) 1559939 Pex1 peroxisomal biogenesis factor 1 gene DOID:906 peroxisomal disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisomal disorder PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 1559942 Cfap44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:7240710 20190315 OMIM 1559942 Cfap44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 1559942 Cfap44 cilia and flagella associated protein 44 gene DOID:630 genetic disease ISO RGD:1343890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1559945 Marchf11 membrane associated ring-CH-type finger 11 gene DOID:630 genetic disease ISO RGD:1642105 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559945 Marchf11 membrane associated ring-CH-type finger 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1642105 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559953 Srsf11 serine and arginine rich splicing factor 11 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343968 D RGD:11038800|PMID:24244432 20160225 RGD mRNA:splice variant:bone marrow, hematopoietic stem cell (human) 1559953 Srsf11 serine and arginine rich splicing factor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1343968 D RGD:11038799|PMID:24007566 20160225 RGD mRNA:splicing variant:peripheral blood mononuclear cell (human) 1559953 Srsf11 serine and arginine rich splicing factor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1343968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1559953 Srsf11 serine and arginine rich splicing factor 11 gene DOID:1059 intellectual disability ISO RGD:1343968 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1559953 Srsf11 serine and arginine rich splicing factor 11 gene DOID:630 genetic disease ISO RGD:1343968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559958 Miga1 mitoguardin 1 gene DOID:630 genetic disease ISO RGD:1605523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559961 Myo19 myosin XIX gene DOID:0060041 autism spectrum disorder ISO RGD:1352895 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1559961 Myo19 myosin XIX gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1559961 Myo19 myosin XIX gene DOID:12849 autistic disorder ISO RGD:1352895 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559961 Myo19 myosin XIX gene DOID:5419 schizophrenia ISO RGD:1352895 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1559961 Myo19 myosin XIX gene DOID:630 genetic disease ISO RGD:1352895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 1559961 Myo19 myosin XIX gene DOID:674 cleft palate ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 1559961 Myo19 myosin XIX gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352895 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1559961 Myo19 myosin XIX gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 1559961 Myo19 myosin XIX gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352895 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:24367057|PMID:25741868|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:32198969|PMID:32466763 1559961 Myo19 myosin XIX gene DOID:9008086 Developmental Disabilities ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1559966 Swi5 SWI5 homologous recombination repair protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1559966 Swi5 SWI5 homologous recombination repair protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1559966 Swi5 SWI5 homologous recombination repair protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1559966 Swi5 SWI5 homologous recombination repair protein gene DOID:630 genetic disease ISO RGD:1350090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559968 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1603689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1559968 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:3070 high grade glioma ISO RGD:1603689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 1559968 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559968 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1603689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1559968 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:9006836 Contracture ISO RGD:1603689 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 1559974 Calcoco2 calcium binding and coiled-coil domain 2 gene DOID:630 genetic disease ISO RGD:1601886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559974 Calcoco2 calcium binding and coiled-coil domain 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1601886 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 1559980 Ccdc179 coiled-coil domain containing 179 gene DOID:1059 intellectual disability ISO RGD:7205404 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1559980 Ccdc179 coiled-coil domain containing 179 gene DOID:630 genetic disease ISO RGD:7205404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559981 Lrrc27 leucine rich repeat containing 27 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318562 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1559981 Lrrc27 leucine rich repeat containing 27 gene DOID:630 genetic disease ISO RGD:1318562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559983 Fn3k fructosamine 3 kinase gene DOID:630 genetic disease ISO RGD:1350348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559985 Cfap46 cilia and flagella associated protein 46 gene DOID:0050545 visceral heterotaxy ISO RGD:1350822 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1559985 Cfap46 cilia and flagella associated protein 46 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350822 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1559985 Cfap46 cilia and flagella associated protein 46 gene DOID:630 genetic disease ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559985 Cfap46 cilia and flagella associated protein 46 gene DOID:758 situs inversus ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1559986 Ube3c ubiquitin protein ligase E3C gene DOID:0110875 holoprosencephaly 3 ISO RGD:1348358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 1559986 Ube3c ubiquitin protein ligase E3C gene DOID:12849 autistic disorder ISO RGD:1348358 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1559986 Ube3c ubiquitin protein ligase E3C gene DOID:630 genetic disease ISO RGD:1348358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559986 Ube3c ubiquitin protein ligase E3C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348358 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1559986 Ube3c ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:7240710 20230505 OMIM 1559986 Ube3c ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities PMID:25741868|PMID:36401616 1559988 Zbed5 zinc finger BED-type containing 5 gene DOID:630 genetic disease ISO RGD:1603615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0050770 polycystic liver disease ISO RGD:1353787 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0080322 polycystic kidney disease ISO RGD:1353787 D RGD:13524568|PMID:16943309 20180423 RGD 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0080322 polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22114106|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24658975|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30820006|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31740684|PMID:32332171|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:7240710 20180418 OMIM 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:21719175|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:25741894|PMID:25741902|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34008892|PMID:34101167|PMID:35005812|PMID:35778421|PMID:8650545|PMID:9175744|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0111002 Joubert syndrome 7 ISO RGD:1353787 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:19936001|PMID:25741868|PMID:28492532 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1353787 D RGD:1580867|PMID:12842373 19990101 RGD DNA:mutations:multiple (human) 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:12215 oligohydramnios ISO RGD:1353787 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:1289 neurodegenerative disease ISO RGD:1353787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:14323 Marfan syndrome ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:178 vascular disease ISO RGD:1353787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:3021 acute kidney failure IEP D RGD:7175293|PMID:12089381 20121129 RGD protein:altered localization 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:5679 retinal disease ISO RGD:1353787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1353787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10411676|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11968093|PMID:12707387|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16540757|PMID:17100995|PMID:17576681|PMID:17582161|PMID:18837007|PMID:22383692|PMID:22863349|PMID:23300259|PMID:25574838|PMID:25741868|PMID:26467025|PMID:26692149|PMID:28356211|PMID:28492532|PMID:29529603|PMID:30333007|PMID:30820006|PMID:31317121|PMID:31740684|PMID:32332171|PMID:32457805|PMID:32816041|PMID:33437033|PMID:33454723|PMID:33532864|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:8466 retinal degeneration ISO RGD:1353787 D RGD:13524568|PMID:16943309 20180423 RGD 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:12089381|PMID:15001556|PMID:24719335|PMID:25877301|PMID:28887310|PMID:30883612 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:7175279|PMID:21115670 20121129 RGD DNA:mutations:multiple 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30816285|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32384474|PMID:32457805|PMID:32970388|PMID:33095447|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease onset ISO RGD:1353787 D RGD:7175273|PMID:22863349 20121129 RGD DNA:mutations:multiple 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353787 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:25741868 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:1580868|PMID:12454224 19990101 RGD protein:increased expression:kidney (rat) 1559992 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9912 hydrocele ISO RGD:1353787 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hydrocele PMID:25741868 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1347914 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:25741868 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:1540 parathyroid carcinoma ISO RGD:1347914 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:1749 squamous cell carcinoma ISO RGD:1347914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:5812 MHC class II deficiency ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:630 genetic disease ISO RGD:1347914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:7240710 20151209 OMIM 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loricrin keratoderma PMID:10798362|PMID:11038186|PMID:11121146|PMID:11703298|PMID:25741868|PMID:31595526|PMID:8673107|PMID:9326323|PMID:9326398 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:9004464 Skin Neoplasms ISO RGD:1347914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 1559993 Loricrin loricrin cornified envelope precursor protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347914 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1559997 Rab32 RAB32, member RAS oncogene family gene DOID:1024 leprosy ISO RGD:1345972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 1559997 Rab32 RAB32, member RAS oncogene family gene DOID:14261 fragile X syndrome ISO RGD:1345972 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 1559997 Rab32 RAB32, member RAS oncogene family gene DOID:3042 allergic contact dermatitis ISO RGD:1345972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 1559997 Rab32 RAB32, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1559997 Rab32 RAB32, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1559997 Rab32 RAB32, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1559998 Ccdc154 coiled-coil domain containing 154 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1559998 Ccdc154 coiled-coil domain containing 154 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2299193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1559998 Ccdc154 coiled-coil domain containing 154 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISS RGD:1619887 D RGD:13592920 20190103 MouseDO OMIM:259700 1559998 Ccdc154 coiled-coil domain containing 154 gene DOID:1826 epilepsy ISO RGD:2299193 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1559998 Ccdc154 coiled-coil domain containing 154 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2299193 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1559998 Ccdc154 coiled-coil domain containing 154 gene DOID:630 genetic disease ISO RGD:2299193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560002 Cfap157 cilia and flagella associated protein 157 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1560002 Cfap157 cilia and flagella associated protein 157 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1560002 Cfap157 cilia and flagella associated protein 157 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1343575 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1560002 Cfap157 cilia and flagella associated protein 157 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1560002 Cfap157 cilia and flagella associated protein 157 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1560002 Cfap157 cilia and flagella associated protein 157 gene DOID:630 genetic disease ISO RGD:1343575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560005 Zdbf2 zinc finger, DBF-type containing 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1560005 Zdbf2 zinc finger, DBF-type containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1605970 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1560005 Zdbf2 zinc finger, DBF-type containing 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1605970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1560005 Zdbf2 zinc finger, DBF-type containing 2 gene DOID:630 genetic disease ISO RGD:1605970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560005 Zdbf2 zinc finger, DBF-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605970 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560005 Zdbf2 zinc finger, DBF-type containing 2 gene DOID:9005806 Nasopalpebral Lipoma Coloboma Syndrome ISO RGD:1605970 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome PMID:23636874|PMID:27139419 1560007 Pdzd11 PDZ domain containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350594 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560007 Pdzd11 PDZ domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1350594 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560007 Pdzd11 PDZ domain containing 11 gene DOID:1826 epilepsy ISO RGD:1350594 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:1540 parathyroid carcinoma ISO RGD:1350364 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1350364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350364 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1350364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:7240710 20190315 OMIM 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 9 PMID:23401279|PMID:25741868|PMID:26416033 1560008 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350364 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560009 Hmgxb3 HMG-box containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560009 Hmgxb3 HMG-box containing 3 gene DOID:630 genetic disease ISO RGD:2302190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560009 Hmgxb3 HMG-box containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302190 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560009 Hmgxb3 HMG-box containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560010 C2h4orf46 similar to human chromosome 4 open reading frame 46 gene DOID:11372 megacolon ISO RGD:1606430 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1560010 C2h4orf46 similar to human chromosome 4 open reading frame 46 gene DOID:630 genetic disease ISO RGD:1606430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560011 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:0080600 COVID-19 ISO RGD:1352491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560011 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:2717 Bloom syndrome ISO RGD:1352491 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560011 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:630 genetic disease ISO RGD:1352491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560011 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:684 hepatocellular carcinoma ISS RGD:1558458 D RGD:13592920 20180518 MouseDO OMIM:114550 1560011 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:9256 colorectal cancer ISO RGD:1352491 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560014 Ddx60 DEXD/H-box helicase 60 gene DOID:10283 prostate cancer ISO RGD:1604355 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1560014 Ddx60 DEXD/H-box helicase 60 gene DOID:630 genetic disease ISO RGD:1604355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560014 Ddx60 DEXD/H-box helicase 60 gene DOID:9001488 Human Influenza ISO RGD:1604355 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1560016 Vps37a VPS37A subunit of ESCRT-I gene DOID:0080743 transverse myelitis ISO RGD:1604528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic transverse myelitis PMID:25741868|PMID:28492532|PMID:29473047 1560016 Vps37a VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:7240710 20140911 OMIM 1560016 Vps37a VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:16199547|PMID:17576681|PMID:22717650|PMID:25741868|PMID:28492532|PMID:29473047|PMID:9536098 1560016 Vps37a VPS37A subunit of ESCRT-I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 1560016 Vps37a VPS37A subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1604528 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:11532670|PMID:27307595 20160902 RGD mRNA:splice variants:CD4+ T cell: 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749|PMID:26829750 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:11532669|PMID:21853052 20160902 RGD mRNA:splice variants:cds: 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:2224 essential thrombocythemia ISS RGD:10933 D RGD:13592920 20180518 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:224 transient cerebral ischemia IEP D RGD:11532683|PMID:24828495 20160902 RGD mRNA:increased expression:brain: 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:2841 asthma ISO RGD:1349179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:3070 high grade glioma ISO RGD:1349179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:26829751 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:4971 myelofibrosis ISS RGD:10933 D RGD:13592920 20180518 MouseDO OMIM:254450 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1349179 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:17435759|PMID:28671688 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:630 genetic disease ISO RGD:1349179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:769 neuroblastoma ISO RGD:1349179 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:9000918 Disease Progression ISO RGD:1349179 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 1560020 Myb MYB proto-oncogene, transcription factor gene DOID:9002514 Neointima treatment IMP D RGD:11532744|PMID:10438864 20160906 RGD 1560021 Rogdi rogdi atypical leucine zipper gene DOID:0060041 autism spectrum disorder ISO RGD:1603007 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 1560021 Rogdi rogdi atypical leucine zipper gene DOID:0080600 COVID-19 ISO RGD:1603007 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560021 Rogdi rogdi atypical leucine zipper gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1560021 Rogdi rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:7240710 20141015 OMIM 1560021 Rogdi rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:16199547|PMID:16411202|PMID:17576681|PMID:22424600|PMID:22482807|PMID:23086778|PMID:24630287|PMID:25565929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:3236364|PMID:4372200|PMID:8133980|PMID:9536098 1560021 Rogdi rogdi atypical leucine zipper gene DOID:1826 epilepsy ISO RGD:1603007 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 1560021 Rogdi rogdi atypical leucine zipper gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1560021 Rogdi rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 1560021 Rogdi rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1560021 Rogdi rogdi atypical leucine zipper gene DOID:630 genetic disease ISO RGD:1603007 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1560022 Kif26b kinesin family member 26B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1560022 Kif26b kinesin family member 26B gene DOID:10907 microcephaly ISO RGD:1605983 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Microcephaly 1560022 Kif26b kinesin family member 26B gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:29053796 1560022 Kif26b kinesin family member 26B gene DOID:1540 parathyroid carcinoma ISO RGD:1605983 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560022 Kif26b kinesin family member 26B gene DOID:630 genetic disease ISO RGD:1605983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560022 Kif26b kinesin family member 26B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605983 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560022 Kif26b kinesin family member 26B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605983 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560026 Lrrc4 leucine rich repeat containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349330 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560026 Lrrc4 leucine rich repeat containing 4 gene DOID:630 genetic disease ISO RGD:1349330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560027 Elavl4 ELAV like RNA binding protein 4 gene DOID:11446 sciatic neuropathy IEP D RGD:1579851|PMID:12957493 20150102 RGD 1560027 Elavl4 ELAV like RNA binding protein 4 gene DOID:1459 hypothyroidism IEP D RGD:1579855|PMID:12859688 20150102 RGD mRNA,protein:increased expression:brain: 1560027 Elavl4 ELAV like RNA binding protein 4 gene DOID:1824 status epilepticus IEP D RGD:9685310|PMID:17577668 20150102 RGD mRNA:increased expression:hippocampus: 1560027 Elavl4 ELAV like RNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1348119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560027 Elavl4 ELAV like RNA binding protein 4 gene DOID:8927 learning disability IEP D RGD:9685325|PMID:23545166 20150102 RGD 1560027 Elavl4 ELAV like RNA binding protein 4 gene DOID:9002189 High Myopia ISO RGD:1348119 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1560030 Vgll3 vestigial-like family member 3 gene DOID:630 genetic disease ISO RGD:1602804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:0050534 congenital stationary night blindness ISO RGD:1601901 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:0050534 congenital stationary night blindness ISO RGD:1601901 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:7240710 20140911 OMIM 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:22325361|PMID:22325362|PMID:23714322|PMID:24033266|PMID:24222301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:10584 retinitis pigmentosa ISO RGD:1601901 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:30718709 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:630 genetic disease ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:8501 fundus dystrophy ISO RGD:1601901 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 1560033 Gpr179 G protein-coupled receptor 179 gene DOID:9000386 Polyomavirus Infections ISO RGD:1601901 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25463609 1560034 RGD1560034 similar to FLJ25323 protein gene DOID:630 genetic disease ISO RGD:1606876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560038 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:0050989 episodic ataxia type 1 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1560038 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1560038 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:630 genetic disease ISO RGD:1317526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560038 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:9002955 Nerve Degeneration ISO RGD:1317526 D RGD:11554173 20210601 CTD CTD Direct Evidence: therapeutic PMID:33359019 1560038 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317526 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1560041 Agfg1 ArfGAP with FG repeats 1 gene DOID:0070311 oligoasthenoteratozoospermia ISS RGD:1321482 D RGD:13592920 20220210 MouseDO 1560041 Agfg1 ArfGAP with FG repeats 1 gene DOID:630 genetic disease ISO RGD:1321481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560041 Agfg1 ArfGAP with FG repeats 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560042 Ccer1 coiled-coil glutamate-rich protein 1 gene DOID:630 genetic disease ISO RGD:1606687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1347407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1347407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347407 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1347407 D RGD:155230826|PMID:32601196 20220922 RGD mRNA:splice variant:exon 2: (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:10534 stomach cancer ISO RGD:1347407 D RGD:155230826|PMID:32601196 20220922 RGD mRNA:splice variant:exon 2: (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1347407 D RGD:155230826|PMID:32601196 20220922 RGD mRNA:splice variant:exon 2: (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:1347407 D RGD:155630592|PMID:32831056 20221020 RGD mRNA:decreased expression:espohagus (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:1612 breast cancer ISO RGD:1347407 D RGD:155230826|PMID:32601196 20220922 RGD mRNA:splice variant:exon 2: (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:1612 breast cancer exacerbates ISO RGD:1557151 D RGD:155249848|PMID:21317887 20220923 RGD 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:219 colon cancer ISO RGD:1347407 D RGD:155230826|PMID:32601196 20220922 RGD mRNA:splice variant:exon 2: (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:234 colon adenocarcinoma ISO RGD:1347407 D RGD:155630593|PMID:18436711 20221020 RGD human cell line and gene in a mouse model 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:2596 larynx cancer ameliorates ISO RGD:1347407 D RGD:155256869|PMID:32791689 20220923 RGD mRNA:increased expression:larynx (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1347407 D RGD:11529413|PMID:27028764 20220923 RGD DNA:missense mutation:CDS:p.E116K (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1557151 D RGD:155253742|PMID:31089135 20220923 RGD mRNA:decreased expression:lung (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1557151 D RGD:155249848|PMID:21317887 20220923 RGD 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1347407 D RGD:155230827|PMID:27861856 20220922 RGD DNA:SNP:3' utr: (rs3679) (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347407 D RGD:155230828|PMID:34236045 20220922 RGD human gene in a mouse model 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:5419 schizophrenia ISS RGD:1557151 D RGD:13592920 20180518 MouseDO OMIM:181500 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1347407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1347407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:769 neuroblastoma ISO RGD:1347407 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1347407 D RGD:2293334|PMID:17577251 20080711 RGD 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9000784 Fibrosis ISO RGD:1347407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347407 D RGD:2293334|PMID:17577251 20080527 RGD 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1557151 D RGD:2293337|PMID:16322247 20080528 RGD expression of the mouse gene inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:1557151 D RGD:2293338|PMID:16489030 20080528 RGD expression of the mouse gene has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1347407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9006618 Liver Metastasis ISO RGD:1347407 D RGD:155259116|PMID:24533778 20220923 RGD associated with colon cancer;protein:increased expression:colon (human) 1560043 Map2k7 mitogen activated protein kinase kinase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 1560047 Ranbp2 RAN binding protein 2 gene DOID:0050591 tooth agenesis ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 1560047 Ranbp2 RAN binding protein 2 gene DOID:0050905 inflammatory myofibroblastic tumor ISO RGD:1351414 D RGD:9999211|PMID:12661011 20150414 RGD DNA:translocations:intron: (human) 1560047 Ranbp2 RAN binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 1560047 Ranbp2 RAN binding protein 2 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:0080855 Parkinsonism severity ISO RGD:1558482 D RGD:9835348|PMID:22821000 20150318 RGD 1560047 Ranbp2 RAN binding protein 2 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1351414 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 1560047 Ranbp2 RAN binding protein 2 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:12336 male infertility ISO RGD:1558482 D RGD:9835350|PMID:21310149 20150318 RGD 1560047 Ranbp2 RAN binding protein 2 gene DOID:13714 anodontia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 1560047 Ranbp2 RAN binding protein 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:4194 glucose metabolism disease ISO RGD:1558482 D RGD:9835347|PMID:17069463 20150318 RGD 1560047 Ranbp2 RAN binding protein 2 gene DOID:630 genetic disease ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:25741868|PMID:28166811|PMID:28492532 1560047 Ranbp2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1351414 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1560047 Ranbp2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:17576681|PMID:19118815|PMID:19811512|PMID:20473521|PMID:21205700|PMID:21945312|PMID:25128471|PMID:25522933|PMID:25640679|PMID:25741868|PMID:26110162|PMID:26923722|PMID:2759111|PMID:27591117|PMID:28166811|PMID:28336122|PMID:28492532|PMID:29593631|PMID:9536098 1560047 Ranbp2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 susceptibility ISO RGD:1351414 D RGD:7240710 20190502 OMIM 1560047 Ranbp2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 susceptibility ISO RGD:1351414 D RGD:9835035|PMID:19118815 20150317 RGD DNA:missense mutation:cds:p.T585M (human) 1560047 Ranbp2 RAN binding protein 2 gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1351414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21030459 1560047 Ranbp2 RAN binding protein 2 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:1351414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:25741868 1560047 Ranbp2 RAN binding protein 2 gene DOID:9538 multiple myeloma ISO RGD:1351414 D RGD:9835349|PMID:19171422 20150318 RGD mRNA:increased expression:bone marrow, plasma cell (human) 1560048 Lair1 leukocyte-associated immunoglobulin-like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1344054 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560048 Lair1 leukocyte-associated immunoglobulin-like receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1344054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1560048 Lair1 leukocyte-associated immunoglobulin-like receptor 1 gene DOID:630 genetic disease ISO RGD:1344054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560049 Dusp3 dual specificity phosphatase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1560049 Dusp3 dual specificity phosphatase 3 gene DOID:630 genetic disease ISO RGD:1345861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:7240710 20190315 OMIM 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-Related Disorder PMID:18414213|PMID:19760657|PMID:22495309|PMID:23160955|PMID:25102098|PMID:25741868|PMID:27133561|PMID:28492532|PMID:28574232|PMID:30365874|PMID:32901917|PMID:33527360 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:1059 intellectual disability ISO RGD:1348910 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26740553|PMID:29777588 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:1790 malignant mesothelioma ISO RGD:1348910 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:630 genetic disease ISO RGD:1348910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10322433|PMID:16893456|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:28492532|PMID:29777588 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348910 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348910 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348910 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:9007450 Pierpont Syndrome ISO RGD:1348910 D RGD:7240710 20190315 OMIM 1560053 Tbl1xr1 TBL1X/Y related 1 gene DOID:9007450 Pierpont Syndrome ISO RGD:1348910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:19760657|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:27133561|PMID:27824329|PMID:28492532|PMID:28562391|PMID:28574232|PMID:28588275|PMID:30365874|PMID:30577886|PMID:31394400|PMID:31618753|PMID:32369273|PMID:35165208|PMID:9450851|PMID:9536098 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0060163 body dysmorphic disorder ISO RGD:1606030 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606030 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20190315 OMIM 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted PMID:25741868|PMID:26833328|PMID:28492532|PMID:34008892 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20150708 OMIM 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X related disorders PMID:19377476|PMID:24607389|PMID:25741868|PMID:26833328|PMID:28492532|PMID:31443933|PMID:33298948 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:1059 intellectual disability ISO RGD:1606030 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:12849 autistic disorder ISO RGD:1606030 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:1826 epilepsy ISO RGD:1606030 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:630 genetic disease ISO RGD:1606030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24607389|PMID:24690944|PMID:25741868|PMID:25763846|PMID:26833328|PMID:28492532|PMID:28688840|PMID:31443933 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606030 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:9008582 Developmental Disease ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1560056 Usp9x ubiquitin specific peptidase 9, X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606030 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 1560062 Lama4 laminin subunit alpha 4 gene DOID:0050451 Brugada syndrome ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532|PMID:28986455 1560062 Lama4 laminin subunit alpha 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1320894 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:0050700 cardiomyopathy ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:17646580|PMID:20890277|PMID:23861362|PMID:24033266|PMID:24463507|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:9536098 1560062 Lama4 laminin subunit alpha 4 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:1320894 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1320894 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1560062 Lama4 laminin subunit alpha 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320894 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 1560062 Lama4 laminin subunit alpha 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 1560062 Lama4 laminin subunit alpha 4 gene DOID:0110226 Brugada syndrome 9 ISO RGD:1320894 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572 1560062 Lama4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 1560062 Lama4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:7240710 20140911 OMIM 1560062 Lama4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:20890277|PMID:21822268|PMID:23274168|PMID:23861362|PMID:24033266|PMID:24121792|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28798025|PMID:28986455|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:9536098 1560062 Lama4 laminin subunit alpha 4 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320894 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 1560062 Lama4 laminin subunit alpha 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:12642 hiatus hernia ISO RGD:1320894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:31333075|PMID:31568572 1560062 Lama4 laminin subunit alpha 4 gene DOID:2843 long QT syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23861362|PMID:28492532|PMID:30847666 1560062 Lama4 laminin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320894 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1560062 Lama4 laminin subunit alpha 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320894 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1560062 Lama4 laminin subunit alpha 4 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1320894 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 1560066 Arfgap3 ADP-ribosylation factor GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1344539 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560066 Arfgap3 ADP-ribosylation factor GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1344539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560066 Arfgap3 ADP-ribosylation factor GTPase activating protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1344539 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1560070 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1560070 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603898 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 1560070 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:3454 brain infarction IEP D RGD:155630606|PMID:12161747 20221025 RGD protein:altered expression:brain (rat) 1560070 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:630 genetic disease ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560070 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1603898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1560077 Lmntd1 lamin tail domain containing 1 gene DOID:630 genetic disease ISO RGD:1602644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560077 Lmntd1 lamin tail domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1602644 D RGD:11554173 20170214 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1354258 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354258 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:0050580 hereditary lymphedema ISO RGD:1354258 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema PMID:25741868|PMID:31215153 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1354258 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:1059 intellectual disability ISO RGD:1354258 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1354258 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:630 genetic disease ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:758 situs inversus ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:7240710 20210526 OMIM 1560078 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 9 PMID:25741868|PMID:26855770|PMID:28492532|PMID:31215153|PMID:31403174 1560083 Myo3a myosin IIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:1349635 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:29880844 1560083 Myo3a myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:7240710 20130221 OMIM 1560083 Myo3a myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 30 PMID:12032315|PMID:17344846|PMID:17576681|PMID:21165622|PMID:23967202|PMID:23990876|PMID:24033266|PMID:24214986|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26841241|PMID:27068579|PMID:28492532|PMID:30311386|PMID:32006683|PMID:32747562|PMID:9536098 1560083 Myo3a myosin IIIA gene DOID:10003 sensorineural hearing loss ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12032315|PMID:23990876|PMID:25741868|PMID:28492532|PMID:32006683|PMID:32747562 1560083 Myo3a myosin IIIA gene DOID:630 genetic disease ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1560083 Myo3a myosin IIIA gene DOID:9004538 Hearing Loss ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 1560083 Myo3a myosin IIIA gene DOID:9006380 Bilateral Hearing Loss ISO RGD:1349635 D RGD:1600555|PMID:12032315 20070314 RGD DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X 1560083 Myo3a myosin IIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349635 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:25741868|PMID:29880844 1560084 Epgn epithelial mitogen gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1560090 Rergl RERG like gene DOID:10283 prostate cancer ISO RGD:1602860 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560090 Rergl RERG like gene DOID:630 genetic disease ISO RGD:1602860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560097 Defb23 defensin beta 23 gene DOID:630 genetic disease ISO RGD:1347595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560097 Defb23 defensin beta 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347595 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560102 Map6d1 MAP6 domain containing 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1602463 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1560102 Map6d1 MAP6 domain containing 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1602463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1560102 Map6d1 MAP6 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602463 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1560102 Map6d1 MAP6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560103 Helb DNA helicase B gene DOID:630 genetic disease ISO RGD:1344471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560104 Cplx3 complexin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1560104 Cplx3 complexin 3 gene DOID:2717 Bloom syndrome ISO RGD:1604870 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560104 Cplx3 complexin 3 gene DOID:5419 schizophrenia ISO RGD:1604870 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560104 Cplx3 complexin 3 gene DOID:630 genetic disease ISO RGD:1604870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560104 Cplx3 complexin 3 gene DOID:9256 colorectal cancer ISO RGD:1604870 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560108 Zfta zinc finger translocation associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2910589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1560108 Zfta zinc finger translocation associated gene DOID:1059 intellectual disability ISO RGD:2910589 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560108 Zfta zinc finger translocation associated gene DOID:3070 high grade glioma ISO RGD:2910589 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1560113 Hoxb4 homeo box B4 gene DOID:630 genetic disease ISO RGD:1344417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560115 Tgif2 TGFB-induced factor homeobox 2 gene DOID:2234 focal epilepsy ISO RGD:1344249 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1560115 Tgif2 TGFB-induced factor homeobox 2 gene DOID:630 genetic disease ISO RGD:1344249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:10045557|PMID:22305528 20150610 RGD DNA:mutations:multiple (human) 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:7240710 20141015 OMIM 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome PMID:16199547|PMID:16760738|PMID:19334086|PMID:22305528|PMID:22541558|PMID:23188108|PMID:24470203|PMID:24999515|PMID:25326635|PMID:25326637|PMID:25387991|PMID:25741868|PMID:26507355|PMID:28492532|PMID:28708303|PMID:32333448|PMID:32410215 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:10485 esophageal atresia ISO RGD:1606577 D RGD:10045556|PMID:23188108 20150827 RGD DNA:mutations:multiple (human) 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606577 D RGD:155791662|PMID:24470203 20230104 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:2043 hepatitis B susceptibility ISO RGD:1606577 D RGD:155791665|PMID:34436958 20230104 RGD 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:219 colon cancer ameliorates ISO RGD:1557328 D RGD:155791667|PMID:31278373 20230104 RGD associated with colitis; 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24470203|PMID:25741868|PMID:26507355|PMID:28492532 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606577 D RGD:155791664|PMID:34282556 20230104 RGD 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606577 D RGD:155791664|PMID:34282556 20230104 RGD 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606577 D RGD:155791666|PMID:32447180 20230104 RGD protein:increased expression:trophoblast, decidua: 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1606577 D RGD:155791662|PMID:24470203 20230104 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:1606577 D RGD:155791666|PMID:32447180 20230104 RGD protein:increased expression:trophoblast, decidua: 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1606577 D RGD:10045556|PMID:23188108 20150610 RGD DNA:mutations:multiple (human) 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741880 1560116 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1606577 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:0060041 autism spectrum disorder ISO RGD:1353739 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:10584 retinitis pigmentosa ISO RGD:1353739 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353739 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:630 genetic disease ISO RGD:1353739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:7240710 20140911 OMIM 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus PMID:22686506|PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532|PMID:28512305 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:9002033 Knobloch Syndrome ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:21862674|PMID:23667181|PMID:28492532 1560118 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:25741868 1560121 Ift70a2 intraflagellar transport 70A2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1603937 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1560121 Ift70a2 intraflagellar transport 70A2 gene DOID:630 genetic disease ISO RGD:1603937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560122 Wdr88 WD repeat domain 88 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1606735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1560122 Wdr88 WD repeat domain 88 gene DOID:630 genetic disease ISO RGD:1606735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560122 Wdr88 WD repeat domain 88 gene DOID:9119 acute myeloid leukemia ISO RGD:1606735 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:0050451 Brugada syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:0050700 cardiomyopathy ISO RGD:1345791 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:7240710 20130425 OMIM 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 2 PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1345791 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:2843 long QT syndrome ISO RGD:1345791 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:5419 schizophrenia ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:630 genetic disease ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:9006030 Infant Death ISO RGD:1345791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11839626|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:24033266|PMID:25741868|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:31618753|PMID:32695137 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1345791 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345791 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:27930701|PMID:28492532 1560123 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 gene DOID:9452 fatty liver disease ISO RGD:1345791 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1560129 Pabir2 PABIR family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605855 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560129 Pabir2 PABIR family member 2 gene DOID:12849 autistic disorder ISO RGD:1605855 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560130 Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1560130 Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1560130 Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1316732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050534 congenital stationary night blindness ISO RGD:1352855 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28041643 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1352855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:30718709 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050795 cone dystrophy ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11857109|PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352855 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1352855 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110413 retinitis pigmentosa 6 ISO RGD:1352855 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 6 PMID:25741868 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:7240710 20130425 OMIM 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553196|PMID:12123547 20140507 RGD DNA:deletion, nonsense mutation:exons:c.1536delC, p.E332X (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553198|PMID:17893654 20140507 RGD DNA:frameshift mutation:exon:c.2919delA (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553206|PMID:10094550 20140507 RGD DNA:transversion:intron:IVS5+1G>T (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553208|PMID:9855162 20140507 RGD DNA:missense mutation:exon:p.G60V (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553210|PMID:9331262 20140507 RGD DNA:nonsense mutation:exon:p.G52X (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553228|PMID:12859409 20140508 RGD DNA:deletion:exon:g.48061-48064delAAGT (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553229|PMID:18361418 20140507 RGD DNA:mutations:multiple (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8553233|PMID:20021257 20140508 RGD DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:10401007|PMID:10482958|PMID:10932196|PMID:10937588|PMID:10970770|PMID:11754050|PMID:11754051|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16387007|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21866333|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29276052|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30193314|PMID:30622176|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32679846|PMID:32702353|PMID:33546218|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1557212 D RGD:8553202|PMID:22563472 20140507 RGD DNA:duplication:exon:?-?+32dup (mouse) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1557212 D RGD:8553204|PMID:10725384 20140507 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:7240710 20170301 OMIM 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8553225|PMID:11857109 20140508 RGD DNA:deletions, insertion, snp:cds:multiple (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8553227|PMID:11875055 20140508 RGD DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:10482958|PMID:11857109|PMID:11875055|PMID:12657579|PMID:15914600|PMID:16055928|PMID:16199547|PMID:16969763|PMID:18332319|PMID:22264887|PMID:23150612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29785639|PMID:31630094|PMID:31645972|PMID:31804667|PMID:8673101 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1557212 D RGD:8553232|PMID:20007830 20140508 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:7240710 20130221 OMIM 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness PMID:10094550|PMID:14627685|PMID:16055928|PMID:1733835|PMID:25741868|PMID:8673101 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:7240710 20140911 OMIM 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic PMID:12160730|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8673101 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10485 esophageal atresia ISO RGD:1352855 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10094550|PMID:12920075|PMID:17480003 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:1599600|PMID:16055928 20070208 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:1599602|PMID:11968081 20070208 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:1599605|PMID:10937588 20070208 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8547535|PMID:23701314 20140217 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:12336 male infertility ISO RGD:1557212 D RGD:8553213|PMID:18579752 20140507 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:12849 autistic disorder ISO RGD:1352855 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:1557212 D RGD:8553217|PMID:20384479 20140507 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12160730 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28041643 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:630 genetic disease ISO RGD:1352855 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1352855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1557212 D RGD:8553201|PMID:15671266 20140507 RGD 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11857109 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10480356|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:18332319|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23372056|PMID:23681342|PMID:25741868|PMID:26872967|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32037395|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33576794|PMID:8673101|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1352855 D RGD:1599600|PMID:16055928 20070208 RGD associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352855 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9004538 Hearing Loss ISO RGD:1352855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9008680 Respiratory Tract Infections ISO RGD:1352855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1560136 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34946927|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 1560137 Fam216b family with sequence similarity 216, member B gene DOID:630 genetic disease ISO RGD:1605573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560139 Rai2 retinoic acid induced 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560139 Rai2 retinoic acid induced 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353493 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560139 Rai2 retinoic acid induced 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 1560139 Rai2 retinoic acid induced 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560139 Rai2 retinoic acid induced 2 gene DOID:12849 autistic disorder ISO RGD:1353493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560139 Rai2 retinoic acid induced 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560139 Rai2 retinoic acid induced 2 gene DOID:630 genetic disease ISO RGD:1353493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560139 Rai2 retinoic acid induced 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353493 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560139 Rai2 retinoic acid induced 2 gene DOID:9565 dextrocardia ISO RGD:1353493 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Dextrocardia 1560141 Phf20l1 PHD finger protein 20-like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606010 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 1560141 Phf20l1 PHD finger protein 20-like 1 gene DOID:14264 benign neonatal seizures ISO RGD:1606010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 1560141 Phf20l1 PHD finger protein 20-like 1 gene DOID:630 genetic disease ISO RGD:1606010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560142 Ypel4 yippee-like 4 gene DOID:0080600 COVID-19 ISO RGD:1345149 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560142 Ypel4 yippee-like 4 gene DOID:1059 intellectual disability ISO RGD:1345149 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560142 Ypel4 yippee-like 4 gene DOID:630 genetic disease ISO RGD:1345149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560145 Ccdc185 coiled-coil domain containing 185 gene DOID:1540 parathyroid carcinoma ISO RGD:1602974 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560145 Ccdc185 coiled-coil domain containing 185 gene DOID:630 genetic disease ISO RGD:1602974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560145 Ccdc185 coiled-coil domain containing 185 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602974 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560146 C5h1orf87 similar to human chromosome 1 open reading frame 87 gene DOID:1059 intellectual disability ISO RGD:1602983 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1560146 C5h1orf87 similar to human chromosome 1 open reading frame 87 gene DOID:630 genetic disease ISO RGD:1602983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560150 Rab44 RAB44, member RAS oncogene family gene DOID:0050553 JMP syndrome ISO RGD:1602152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1560151 Ankrd66 ankyrin repeat domain 66 gene DOID:630 genetic disease ISO RGD:7204990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560155 Dip2c disco-interacting protein 2 homolog C gene DOID:5409 lung small cell carcinoma ISO RGD:1346607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1560155 Dip2c disco-interacting protein 2 homolog C gene DOID:630 genetic disease ISO RGD:1346607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560155 Dip2c disco-interacting protein 2 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346607 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560155 Dip2c disco-interacting protein 2 homolog C gene DOID:9008086 Developmental Disabilities ISO RGD:1346607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1560155 Dip2c disco-interacting protein 2 homolog C gene DOID:9970 obesity ISO RGD:1346607 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 1560157 Zfp800 zinc finger protein 800 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603887 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560157 Zfp800 zinc finger protein 800 gene DOID:630 genetic disease ISO RGD:1603887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0080907 Cockayne syndrome A ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21681106|PMID:21924235|PMID:22099533|PMID:24033266|PMID:25333069|PMID:25741868|PMID:27597947|PMID:28492532|PMID:29572252 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:7240710 20190315 OMIM 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:20818383|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:2962 Cockayne syndrome ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:3652 Leigh disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16200211|PMID:18180188|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604552 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560158 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1604552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16200211 1560160 Tspan6 tetraspanin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347181 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560160 Tspan6 tetraspanin 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 1560160 Tspan6 tetraspanin 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1560160 Tspan6 tetraspanin 6 gene DOID:12849 autistic disorder ISO RGD:1347181 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560160 Tspan6 tetraspanin 6 gene DOID:630 genetic disease ISO RGD:1347181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560161 Cdh24 cadherin 24 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1560161 Cdh24 cadherin 24 gene DOID:630 genetic disease ISO RGD:1353170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560161 Cdh24 cadherin 24 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1560161 Cdh24 cadherin 24 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1560165 Lrrc17 leucine rich repeat containing 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344845 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560165 Lrrc17 leucine rich repeat containing 17 gene DOID:630 genetic disease ISO RGD:1344845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560166 Gpr62 G protein-coupled receptor 62 gene DOID:630 genetic disease ISO RGD:1351718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22306653 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:7240710 20141015 OMIM 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:10508986|PMID:16199547|PMID:16957732|PMID:17576681|PMID:22306653|PMID:23486540|PMID:23576526|PMID:23594738|PMID:23613427|PMID:23756462|PMID:24141620|PMID:25640679|PMID:25670083|PMID:25741868|PMID:25741875|PMID:26689913|PMID:27153395|PMID:27431325|PMID:28328139|PMID:28492532|PMID:29625052|PMID:30344923|PMID:30359267|PMID:31350202|PMID:31942411|PMID:33332384|PMID:33719213|PMID:34130653|PMID:6093533|PMID:9536098 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:0080006 bone development disease ISO RGD:1604754 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:2154 nephroblastoma ISO RGD:1604754 D RGD:11558020|PMID:22306653 20161107 RGD DNA:missense mutations, deletions:multiple (human) 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25670083|PMID:25741868|PMID:28492532|PMID:30344923|PMID:30359267 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:687 hepatoblastoma ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 1560168 Dis3l2 DIS3-like 3'-5' exoribonuclease 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560169 Stpg1 sperm-tail PG-rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1604766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560169 Stpg1 sperm-tail PG-rich repeat containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1560169 Stpg1 sperm-tail PG-rich repeat containing 1 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1604766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:25741868|PMID:28492532 1560170 Med14 mediator complex subunit 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343127 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560170 Med14 mediator complex subunit 14 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1560170 Med14 mediator complex subunit 14 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1560170 Med14 mediator complex subunit 14 gene DOID:1059 intellectual disability ISO RGD:1343127 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560170 Med14 mediator complex subunit 14 gene DOID:12849 autistic disorder ISO RGD:1343127 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560170 Med14 mediator complex subunit 14 gene DOID:289 endometriosis ISO RGD:1343127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1560170 Med14 mediator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1343127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1560170 Med14 mediator complex subunit 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343127 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560170 Med14 mediator complex subunit 14 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343127 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1560171 Hapstr2 HUWE1 associated protein modifying stress responses 2 gene DOID:12849 autistic disorder ISO RGD:38668552 D RGD:8554872 20200929 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560172 Nphp4 nephrocystin 4 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1560172 Nphp4 nephrocystin 4 gene DOID:0080205 CAKUT ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 1560172 Nphp4 nephrocystin 4 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1351118 D RGD:11068164|PMID:15776426 20160930 RGD DNA:mutations:exon, intron:multiple 1560172 Nphp4 nephrocystin 4 gene DOID:0111112 nephronophthisis 1 ISO RGD:1351118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12205563|PMID:15776426|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:29127258|PMID:30143558 1560172 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:11537341|PMID:18076122 20160929 RGD DNA:nonsense mutations, duplications:exon:multiple 1560172 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:11537342|PMID:14750102 20160929 RGD DNA:nonsense mutation: :3272del (human) 1560172 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:11537355|PMID:12205563 20160930 RGD DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple 1560172 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:7240710 20130221 OMIM 1560172 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:33532864|PMID:34295353|PMID:9536098 1560172 Nphp4 nephrocystin 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1351118 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 1560172 Nphp4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:11065524|PMID:17855640 20160929 RGD DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple 1560172 Nphp4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098 1560172 Nphp4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098 1560172 Nphp4 nephrocystin 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26920127|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:1682 congenital heart disease ISO RGD:1351118 D RGD:11537354|PMID:22550138 20160930 RGD DNA:missense mutations: :multiple 1560172 Nphp4 nephrocystin 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351118 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15776426|PMID:25741868|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:5223 infertility ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:12205563|PMID:12244321|PMID:23559409|PMID:25558065|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:557 kidney disease ISO RGD:1351118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12205563|PMID:15776426|PMID:21546380|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:29127258 1560172 Nphp4 nephrocystin 4 gene DOID:630 genetic disease ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:8501 fundus dystrophy ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15776426|PMID:21068128|PMID:21546380|PMID:25741868|PMID:28492532 1560172 Nphp4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:7240710 20130221 OMIM 1560172 Nphp4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:11920287|PMID:12205563|PMID:1248184|PMID:15776426|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:21068128|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:34295353|PMID:6837691|PMID:9536098 1560172 Nphp4 nephrocystin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351118 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560173 Ndc1 NDC1 transmembrane nucleoporin gene DOID:630 genetic disease ISO RGD:1601865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560173 Ndc1 NDC1 transmembrane nucleoporin gene DOID:9004657 Weight Gain ISO RGD:1601865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1560173 Ndc1 NDC1 transmembrane nucleoporin gene DOID:9008086 Developmental Disabilities ISO RGD:1601865 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Global developmental delay 1560175 Usf3 upstream transcription factor family member 3 gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma 1560175 Usf3 upstream transcription factor family member 3 gene DOID:630 genetic disease ISO RGD:1602969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560175 Usf3 upstream transcription factor family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1560177 Lhfpl6 LHFPL tetraspan subfamily member 6 gene DOID:630 genetic disease ISO RGD:1347444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560177 Lhfpl6 LHFPL tetraspan subfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560183 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1560183 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:14701 propionic acidemia ISO RGD:1606198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1560183 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:4621 holoprosencephaly ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1560183 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:630 genetic disease ISO RGD:1606198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560183 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606198 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1560183 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9007853 Worster-Drought Syndrome ISO RGD:1606198 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Worster-Drought syndrome PMID:24375697 1560187 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1560187 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1560187 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1603802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1560187 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1560187 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1560188 Zfp14 ZFP14 zinc finger protein gene DOID:630 genetic disease ISO RGD:1605971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560190 Slamf7 SLAM family member 7 gene DOID:0080600 COVID-19 ISO RGD:1345987 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1560190 Slamf7 SLAM family member 7 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1560190 Slamf7 SLAM family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1345987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560190 Slamf7 SLAM family member 7 gene DOID:630 genetic disease ISO RGD:1345987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560190 Slamf7 SLAM family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345987 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560191 Zfp62 zinc finger protein 62 gene DOID:630 genetic disease ISO RGD:1353379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560195 Rnft2 ring finger protein, transmembrane 2 gene DOID:630 genetic disease ISO RGD:1605925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:0060599 Nance-Horan syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351588 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:0111042 glycogen storage disease IXa ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:12849 autistic disorder ISO RGD:1351588 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:6039 uveal melanoma ISO RGD:1351588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793026 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:630 genetic disease ISO RGD:1351588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:6438 malignant choroid melanoma ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Choroidal melanoma PMID:25741868 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351588 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560198 Eif1ax eukaryotic translation initiation factor 1A, X-linked gene DOID:9538 multiple myeloma ISO RGD:1351588 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1560200 Gpr160 G protein-coupled receptor 160 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1560200 Gpr160 G protein-coupled receptor 160 gene DOID:1062 Fanconi syndrome ISO RGD:1345785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1560200 Gpr160 G protein-coupled receptor 160 gene DOID:630 genetic disease ISO RGD:1345785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560201 Fam114a1 family with sequence similarity 114, member A1 gene DOID:630 genetic disease ISO RGD:1606191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560201 Fam114a1 family with sequence similarity 114, member A1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1560202 Lrrc14 leucine rich repeat containing 14 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1348401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 1560202 Lrrc14 leucine rich repeat containing 14 gene DOID:630 genetic disease ISO RGD:1348401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560204 Nxt2 nuclear transport factor 2-like export factor 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1350653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1560204 Nxt2 nuclear transport factor 2-like export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350653 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560204 Nxt2 nuclear transport factor 2-like export factor 2 gene DOID:12849 autistic disorder ISO RGD:1350653 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560204 Nxt2 nuclear transport factor 2-like export factor 2 gene DOID:630 genetic disease ISO RGD:1350653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560205 Rbm46 RNA binding motif protein 46 gene DOID:630 genetic disease ISO RGD:1602830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560213 Srrm4 serine/arginine repetitive matrix 4 gene DOID:3426 vestibular disease ISO RGD:1603376 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 1560213 Srrm4 serine/arginine repetitive matrix 4 gene DOID:630 genetic disease ISO RGD:1603376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560213 Srrm4 serine/arginine repetitive matrix 4 gene DOID:9002500 Hearing Disorders ISO RGD:1603376 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 1560215 Calhm3 calcium homeostasis modulator 3 gene DOID:630 genetic disease ISO RGD:1347189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560216 Helq helicase, POLQ-like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1605893 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1560216 Helq helicase, POLQ-like gene DOID:630 genetic disease ISO RGD:1605893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0060336 3-methylglutaconic aciduria ISO RGD:1603908 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria PMID:25741868 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:7240710 20130731 OMIM 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:22981120|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28492532|PMID:29625556|PMID:34008892|PMID:9536098 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1603908 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:16055927|PMID:27928778|PMID:28492532 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111546 Currarino syndrome ISO RGD:1603908 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603908 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 1560220 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:630 genetic disease ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560224 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:0080690 RASopathy ISO RGD:3516342 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1560224 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:3883 Lynch syndrome ISO RGD:3516342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1560224 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:630 genetic disease ISO RGD:3516342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560224 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3516342 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:2290191 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:14791 Leber congenital amaurosis ISO RGD:2290191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:33594928|PMID:9536098 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:630 genetic disease ISO RGD:2290191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:9001923 Foveal Hypoplasia ISO RGD:2290191 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:24045842 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:9005126 Malonic Aciduria ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:9005271 Foveal Hypoplasia and Anterior Segment Dysgenesis ISO RGD:2290191 D RGD:7240710 20140416 OMIM 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:9005271 Foveal Hypoplasia and Anterior Segment Dysgenesis ISO RGD:2290191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis PMID:19590516|PMID:24045842|PMID:24290379|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:32032626|PMID:33498813 1560237 Slc38a8 solute carrier family 38, member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2290191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1560239 Tex11 testis expressed 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347600 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560239 Tex11 testis expressed 11 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347600 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25970010|PMID:28132688 1560239 Tex11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:7240710 20170419 OMIM 1560239 Tex11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25970010|PMID:28492532 1560239 Tex11 testis expressed 11 gene DOID:1059 intellectual disability ISO RGD:1347600 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 1560239 Tex11 testis expressed 11 gene DOID:12849 autistic disorder ISO RGD:1347600 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560239 Tex11 testis expressed 11 gene DOID:630 genetic disease ISO RGD:1347600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560239 Tex11 testis expressed 11 gene DOID:9007898 FG Syndrome 1 ISO RGD:1347600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:7240710 20140911 OMIM 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 4 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22818856|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28492532|PMID:9536098 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:1826 epilepsy ISO RGD:1345830 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345830 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:422 congenital structural myopathy ISO RGD:1345830 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism 1560244 Ccdc78 coiled-coil domain containing 78 gene DOID:630 genetic disease ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560247 Cldn2 claudin 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1560247 Cldn2 claudin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352349 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560247 Cldn2 claudin 2 gene DOID:12336 male infertility ISO RGD:1352349 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Male infertility PMID:31320686 1560247 Cldn2 claudin 2 gene DOID:12849 autistic disorder ISO RGD:1352349 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560247 Cldn2 claudin 2 gene DOID:4989 pancreatitis ISO RGD:1352349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143602 1560247 Cldn2 claudin 2 gene DOID:630 genetic disease ISO RGD:1352349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560247 Cldn2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:7240710 20210414 OMIM 1560247 Cldn2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis PMID:31320686 1560248 Fmnl2 formin-like 2 gene DOID:630 genetic disease ISO RGD:1315771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560248 Fmnl2 formin-like 2 gene DOID:8778 Crohn's disease ISO RGD:1315771 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Crohn disease 1560248 Fmnl2 formin-like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315771 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560251 Caap1 caspase activity and apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1344567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 1 PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605844 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1605844 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:14773 cartilage-hair hypoplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:630 genetic disease ISO RGD:1605844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1605844 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:9007249 Metaphyseal Dysplasia without Hypotrichosis ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia without hypotrichosis PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1560252 Ccdc107 coiled-coil domain containing 107 gene DOID:9870 galactosemia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1560256 Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606067 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560256 Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:630 genetic disease ISO RGD:1606067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560256 Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606067 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560258 Nupr2 nuclear protein 2, transcriptional regulator gene DOID:12849 autistic disorder ISO RGD:6770124 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560258 Nupr2 nuclear protein 2, transcriptional regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:6770124 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560258 Nupr2 nuclear protein 2, transcriptional regulator gene DOID:630 genetic disease ISO RGD:6770124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560259 Magee1 MAGE family member E1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349261 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560259 Magee1 MAGE family member E1 gene DOID:0080600 COVID-19 ISO RGD:1349261 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560259 Magee1 MAGE family member E1 gene DOID:12849 autistic disorder ISO RGD:1349261 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560259 Magee1 MAGE family member E1 gene DOID:4138 bile duct disease ISO RGD:1349261 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 1560259 Magee1 MAGE family member E1 gene DOID:630 genetic disease ISO RGD:1349261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560259 Magee1 MAGE family member E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:0050437 Danon disease ISO RGD:1346078 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346078 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:7240710 20190619 OMIM 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:17576681|PMID:17704778|PMID:18414213|PMID:19238151|PMID:22957832|PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532|PMID:31737052|PMID:9536098 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:1059 intellectual disability ISO RGD:1346078 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:12849 autistic disorder ISO RGD:1346078 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1346078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:83 cataract ISO RGD:1346078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346078 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560264 Upf3b UPF3B, regulator of nonsense mediated mRNA decay gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346078 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17704778 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319399 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:19597491|PMID:19597492|PMID:22544366|PMID:29892015|PMID:30061737 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1319399 D RGD:7240710 20180418 OMIM 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:2315694|PMID:16637072 20100108 RGD DNA:deletion (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:2315695|PMID:15750593 20100108 RGD DNA, mRNA:mutations, decreased expression: :multiple, prostate gland (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:1324 lung cancer ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:1612 breast cancer exacerbates ISO RGD:1319399 D RGD:151361167|PMID:33217982 20220227 RGD mRNA:decreased expression:breast (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1319399 D RGD:151361169|PMID:20534899 20220227 RGD protein:increased expression:blood serum (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1319399 D RGD:151361166|PMID:28713972 20220227 RGD protein:increased expression:colon, nucleus, cytoplasm (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1319399 D RGD:2315696|PMID:15671546 20100108 RGD 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1319399 D RGD:151361163|PMID:32653938 20220227 RGD DNA:mutations:multiple (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319399 D RGD:151361164|PMID:23144151 20220227 RGD mRNA:decreased expression:lung (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1319399 D RGD:151361163|PMID:32653938 20220227 RGD DNA:mutations:multiple (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:4362 cervical cancer ISO RGD:1319399 D RGD:2315697|PMID:11812077 20100108 RGD mRNA:increased expression:uterine cervix 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:4929 tubular adenocarcinoma exacerbates ISO RGD:1319399 D RGD:151361166|PMID:28713972 20220227 RGD protein:increased expression:colon, nucleus, cytoplasm (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1319399 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319399 D RGD:151361169|PMID:20534899 20220227 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319399 D RGD:151361162|PMID:32277050 20220227 RGD human cell line in a mouse model 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:687 hepatoblastoma ISO RGD:1319399 D RGD:151361168|PMID:33368532 20220227 RGD protein:increased expression:liver (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1319399 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:15750593 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1319399 D RGD:151361170|PMID:33479213 20220227 RGD brain metastasis associated with lung adenocarcinoma;DNA:mutations:multiple (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319399 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:16637072|PMID:17013881|PMID:29610475 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30559488 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9007096 Stroke ISO RGD:1319399 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1319399 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1319399 D RGD:151361169|PMID:20534899 20220227 RGD protein:increased expression:blood serum (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319399 D RGD:151361165|PMID:27435776 20220227 RGD mRNA, protein:increased expression:colorectum (human) 1560268 Zfhx3 zinc finger homeobox 3 gene DOID:9970 obesity ISO RGD:1319399 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 1560271 Mdfi MyoD family inhibitor gene DOID:0050444 infantile Refsum disease ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1560271 Mdfi MyoD family inhibitor gene DOID:630 genetic disease ISO RGD:1353332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560271 Mdfi MyoD family inhibitor gene DOID:905 Zellweger syndrome ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1560274 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 1560274 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1560274 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1560274 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:630 genetic disease ISO RGD:1605597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560277 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1560277 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605191 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560277 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:630 genetic disease ISO RGD:1605191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560277 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:9256 colorectal cancer ISO RGD:1605191 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560280 Agbl1 AGBL carboxypeptidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560280 Agbl1 AGBL carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1345768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1560280 Agbl1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:7240710 20140911 OMIM 1560280 Agbl1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 PMID:24094747|PMID:25741868 1560280 Agbl1 AGBL carboxypeptidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345768 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560284 Spaca1 sperm acrosome associated 1 gene DOID:630 genetic disease ISO RGD:1344211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560286 Szrd1 SUZ RNA binding domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1607050 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1560287 Ncald neurocalcin delta gene DOID:0080600 COVID-19 ISO RGD:1348281 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560287 Ncald neurocalcin delta gene DOID:0111590 Cohen syndrome ISO RGD:1348281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1560287 Ncald neurocalcin delta gene DOID:630 genetic disease ISO RGD:1348281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560289 C4h3orf20 similar to human chromosome 3 open reading frame 20 gene DOID:0060417 3p deletion syndrome ISO RGD:1343380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1560289 C4h3orf20 similar to human chromosome 3 open reading frame 20 gene DOID:630 genetic disease ISO RGD:1343380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560290 Sntg1 syntrophin, gamma 1 gene DOID:630 genetic disease ISO RGD:1347731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353862 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1353862 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1353862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:7240710 20220608 OMIM 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 102 PMID:33876203|PMID:35464398 1560293 Sash3 SAM and SH3 domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560300 Slf2 SMC5-SMC6 complex localization factor 2 gene DOID:630 genetic disease ISO RGD:1349080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560300 Slf2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:7240710 20230125 OMIM 1560300 Slf2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 1 PMID:36333305 1560307 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1353110 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560307 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1353110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560307 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353110 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1560307 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353110 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 1560308 Exph5 exophilin 5 gene DOID:1059 intellectual disability ISO RGD:1604627 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560308 Exph5 exophilin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1604627 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1560308 Exph5 exophilin 5 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1604627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 1560308 Exph5 exophilin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1604627 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1560308 Exph5 exophilin 5 gene DOID:630 genetic disease ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560308 Exph5 exophilin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604627 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1560308 Exph5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:7240710 20140911 OMIM 1560308 Exph5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive PMID:23176819|PMID:24005056|PMID:24443915|PMID:25741868|PMID:26211931|PMID:27384765|PMID:27730671|PMID:28492532|PMID:28830826|PMID:30016581|PMID:32176379 1560309 Prrg3 proline rich and Gla domain 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1560309 Prrg3 proline rich and Gla domain 3 gene DOID:12849 autistic disorder ISO RGD:1343058 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560309 Prrg3 proline rich and Gla domain 3 gene DOID:630 genetic disease ISO RGD:1343058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560313 Myo3b myosin IIIB gene DOID:630 genetic disease ISO RGD:1352249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560320 Dennd4b DENN domain containing 4B gene DOID:0070048 GAND syndrome ISO RGD:1344276 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 1560320 Dennd4b DENN domain containing 4B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1560320 Dennd4b DENN domain containing 4B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1560320 Dennd4b DENN domain containing 4B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1560320 Dennd4b DENN domain containing 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1344276 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560320 Dennd4b DENN domain containing 4B gene DOID:5812 MHC class II deficiency ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1560320 Dennd4b DENN domain containing 4B gene DOID:630 genetic disease ISO RGD:1344276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560320 Dennd4b DENN domain containing 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1344276 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1560320 Dennd4b DENN domain containing 4B gene DOID:9007661 Dwarfism ISO RGD:1344276 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1560320 Dennd4b DENN domain containing 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344276 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606716 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:25741868 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079258 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:7240710 20130925 OMIM 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:20950377|PMID:22043478|PMID:22716240|PMID:24033266|PMID:24728327|PMID:25741868|PMID:27369646|PMID:28492532|PMID:8723089|PMID:9327263|PMID:9383023 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1606716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:12849 autistic disorder ISO RGD:1606716 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:2154 nephroblastoma ISO RGD:1606716 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:630 genetic disease ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19079258|PMID:20209645|PMID:24728327|PMID:25741868|PMID:28492532 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:674 cleft palate ISO RGD:1606716 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:1606716 D RGD:151665182|PMID:30062471 20220315 RGD associated with colorectal cancer;DNA:mutation:multiple (human) 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:11527838|PMID:26071483 20220315 RGD DNA:SNPs:multiple (human) 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:150524297|PMID:28675510 20220315 RGD mRNA:increased expression:colorectal mucosa (human) 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:34549727|PMID:34771502 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606716 D RGD:151665181|PMID:30631060 20220315 RGD protein:decreased expression:colonic mucosa (human) 1560322 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer onset ISO RGD:1606716 D RGD:151665183|PMID:31243121 20220315 RGD DNA:mutations: (human) 1560326 Fgfbp3 fibroblast growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:1347294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560328 Tmem258 transmembrane protein 258 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1560328 Tmem258 transmembrane protein 258 gene DOID:1059 intellectual disability ISO RGD:1351820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560328 Tmem258 transmembrane protein 258 gene DOID:630 genetic disease ISO RGD:1351820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560331 Steap4 STEAP4 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347045 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560331 Steap4 STEAP4 metalloreductase gene DOID:630 genetic disease ISO RGD:1347045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560331 Steap4 STEAP4 metalloreductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347045 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560331 Steap4 STEAP4 metalloreductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347045 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 1560332 Lyg1 lysozyme G1 gene DOID:630 genetic disease ISO RGD:1602188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560333 RGD1560333 similar to Ferritin light chain (Ferritin L subunit) gene DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170324 RGD 1560334 Myl6b myosin light chain 6B gene DOID:630 genetic disease ISO RGD:1606964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560334 Myl6b myosin light chain 6B gene DOID:9000058 Keloid ISO RGD:1606964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:1603213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:1826 epilepsy ISO RGD:1603213 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:1856 cherubism ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:630 genetic disease ISO RGD:1603213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33921431|PMID:34113002 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1603213 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 PMID:25741868|PMID:26996948|PMID:28492532 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:7240710 20190315 OMIM 1560335 Pigg phosphatidylinositol glycan anchor biosynthesis, class G gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EMM-NULL PHENOTYPE | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 53 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:16199547|PMID:17576681|PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33763700|PMID:33921431|PMID:34113002|PMID:34535746|PMID:34908758|PMID:3603660|PMID:9536098 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353750 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:0080600 COVID-19 ISO RGD:1353750 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1353750 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:26046368 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353750 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1353750 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28945253 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:1353750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1353750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:23535733 1560339 Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353750 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1312517 D RGD:1601093|PMID:8797827 20080429 RGD DNA:deletion, point mutation:2281delTCTC, p.R788W 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1312517 D RGD:7246919|PMID:22824526 20130626 RGD 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1312517 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:15159313|PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:27607234|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9485007|PMID:9579555|PMID:9580660 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050952 spastic ataxia ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:23623389|PMID:25741868|PMID:28492532|PMID:9580660 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:7240710 20130221 OMIM 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: XFE progeroid syndrome PMID:15886521|PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:8797827|PMID:9579555 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:1312517 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:23623386|PMID:25741868 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:7240710 20130425 OMIM 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/cockayne syndrome PMID:15159313|PMID:15886521|PMID:16199547|PMID:16550608|PMID:17183314|PMID:17576681|PMID:18767034|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23407396|PMID:23623386|PMID:23623389|PMID:24004570|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32034146|PMID:32487094|PMID:32659497|PMID:32756499|PMID:32868804|PMID:34117267|PMID:8797827|PMID:9485007|PMID:9536098|PMID:9579555|PMID:9580660 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:7240710 20140911 OMIM 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group Q PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24033266|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9579555 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1312517 D RGD:155260342|PMID:30417012 20221004 RGD mRNA:increased expression:stomach (human) 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10907 microcephaly ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:28767289 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1312517 D RGD:155260345|PMID:35135151 20221004 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.P379S, p.E875G (rs1799802, rs1800124) (human) 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:1793 pancreatic cancer ISO RGD:1312517 D RGD:2317223|PMID:18544627 20100322 RGD pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human) 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1312517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:25741868|PMID:28492532 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3459 breast carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3911 progeria ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:630 genetic disease ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15886521|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20372803 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9002801 Recurrence ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:7296926|PMID:22228707 20150615 RGD 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:24036326 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312517 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18767034|PMID:23407396|PMID:24004570|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1312517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 1560340 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1312517 D RGD:155260343|PMID:16951227 20221004 RGD mRNA:increased expression:colorectum (human) 1560342 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1348894 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 1560342 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:7240710 20190315 OMIM 1560342 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency PMID:24658003|PMID:25741868|PMID:30109272 1560342 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:1348894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560342 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348894 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1560344 Tfdp1 transcription factor Dp-1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1346598 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 1560344 Tfdp1 transcription factor Dp-1 gene DOID:2222 factor X deficiency ISO RGD:1346598 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1560344 Tfdp1 transcription factor Dp-1 gene DOID:630 genetic disease ISO RGD:1346598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560344 Tfdp1 transcription factor Dp-1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1560354 Lipn lipase, family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:7240710 20140911 OMIM 1560354 Lipn lipase, family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 PMID:25741868|PMID:28492532 1560354 Lipn lipase, family member N gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1349924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 1560354 Lipn lipase, family member N gene DOID:630 genetic disease ISO RGD:1349924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560354 Lipn lipase, family member N gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349924 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1560355 Lypd5 Ly6/Plaur domain containing 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1604488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1560355 Lypd5 Ly6/Plaur domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1604488 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560355 Lypd5 Ly6/Plaur domain containing 5 gene DOID:630 genetic disease ISO RGD:1604488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560358 Ccar1 cell division cycle and apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:1345566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:7240710 20190315 OMIM 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 PMID:25741868|PMID:26942284|PMID:28492532 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:10652 Alzheimer's disease ISO RGD:1348377 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:14330 Parkinson's disease ISO RGD:1348377 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26942284|PMID:27352967 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1348377 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:630 genetic disease ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:9255 frontotemporal dementia ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:28492532|PMID:29770609|PMID:31836585 1560364 Vps13c vacuolar protein sorting 13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1348377 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560367 Rbm6 RNA binding motif protein 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1560367 Rbm6 RNA binding motif protein 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1560367 Rbm6 RNA binding motif protein 6 gene DOID:630 genetic disease ISO RGD:1342651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560367 Rbm6 RNA binding motif protein 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342651 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1560367 Rbm6 RNA binding motif protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1560368 Map9 microtubule-associated protein 9 gene DOID:630 genetic disease ISO RGD:1605620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560369 Mageb18 MAGE family member B18 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605545 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560369 Mageb18 MAGE family member B18 gene DOID:12849 autistic disorder ISO RGD:1605545 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560369 Mageb18 MAGE family member B18 gene DOID:630 genetic disease ISO RGD:1605545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560369 Mageb18 MAGE family member B18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605545 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0050777 Joubert syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:0081097 Rafiq syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:3652 Leigh disease ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:4990 essential tremor ISO RGD:1350546 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:630 genetic disease ISO RGD:1350546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560370 Ccdc183 coiled-coil domain containing 183 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0050589 inflammatory bowel disease ISO RGD:1345772 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0060898 Parkinson's disease 20 ISO RGD:1345772 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0080600 COVID-19 ISO RGD:1345772 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:1345772 D RGD:11046269|PMID:19409109 20160404 RGD DNA:SNP: :rs28341676 (human) 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1345772 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:16199547|PMID:16757563|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22549091|PMID:24033266|PMID:24089328|PMID:24216686|PMID:25373860|PMID:25741868|PMID:27336593|PMID:27699073|PMID:28492532|PMID:29248579|PMID:29531467|PMID:30365510|PMID:31931724|PMID:9536098 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 susceptibility ISO RGD:1345772 D RGD:7240710 20230505 OMIM 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:0111995 immunodeficiency 28 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B ISO RGD:1345772 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B ISO RGD:1345772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29248579 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B susceptibility ISO RGD:1345772 D RGD:7240710 20190502 OMIM 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:1345772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1345772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5490305|PMID:21240009 20120321 RGD protein:increased expression:ileum 1560373 Il10rb interleukin 10 receptor subunit beta gene DOID:9005698 ZTTK Syndrome ISO RGD:1345772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1560377 Snapin SNAP-associated protein gene DOID:0080600 COVID-19 ISO RGD:1351269 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560377 Snapin SNAP-associated protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1560377 Snapin SNAP-associated protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1560377 Snapin SNAP-associated protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1560377 Snapin SNAP-associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1351269 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560377 Snapin SNAP-associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1560377 Snapin SNAP-associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351269 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560383 Krt222 keratin 222 gene DOID:630 genetic disease ISO RGD:1606170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560384 Prdm10 PR/SET domain 10 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348926 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1560384 Prdm10 PR/SET domain 10 gene DOID:5419 schizophrenia ISO RGD:1348926 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560384 Prdm10 PR/SET domain 10 gene DOID:630 genetic disease ISO RGD:1348926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560384 Prdm10 PR/SET domain 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348926 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1560384 Prdm10 PR/SET domain 10 gene DOID:9007661 Dwarfism ISO RGD:1348926 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:0060041 autism spectrum disorder ISO RGD:1351632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351632 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:0080600 COVID-19 ISO RGD:1351632 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:1059 intellectual disability ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:12849 autistic disorder ISO RGD:1351632 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:630 genetic disease ISO RGD:1351632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10940247|PMID:25017102|PMID:25741868|PMID:28462983|PMID:28492532 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037551 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25017102 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:7240710 20171011 OMIM 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primrose syndrome PMID:21567911|PMID:21910247|PMID:25017102|PMID:25741868|PMID:28327206|PMID:28492532|PMID:29737001|PMID:30256248 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351632 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351632 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560387 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351632 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1560391 Gabpb1 GA binding protein transcription factor subunit beta 1 gene DOID:2717 Bloom syndrome ISO RGD:1321019 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560391 Gabpb1 GA binding protein transcription factor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560391 Gabpb1 GA binding protein transcription factor subunit beta 1 gene DOID:9256 colorectal cancer ISO RGD:1321019 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560392 Gtf3c2 general transcription factor IIIC subunit 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1560392 Gtf3c2 general transcription factor IIIC subunit 2 gene DOID:630 genetic disease ISO RGD:1343562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560393 Armc1 armadillo repeat containing 1 gene DOID:630 genetic disease ISO RGD:1343337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560394 RGD1560394 RGD1560394 gene DOID:1856 cherubism ISO RGD:2301122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1560394 RGD1560394 RGD1560394 gene DOID:630 genetic disease ISO RGD:2301122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560395 Lrrc72 leucine rich repeat containing 72 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:5508492 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 1560395 Lrrc72 leucine rich repeat containing 72 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5508492 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560395 Lrrc72 leucine rich repeat containing 72 gene DOID:630 genetic disease ISO RGD:5508492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560397 Msi2 musashi RNA-binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1352746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1560397 Msi2 musashi RNA-binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1352746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560397 Msi2 musashi RNA-binding protein 2 gene DOID:630 genetic disease ISO RGD:1352746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560399 Rnf182 ring finger protein 182 gene DOID:630 genetic disease ISO RGD:1351673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560399 Rnf182 ring finger protein 182 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1560399 Rnf182 ring finger protein 182 gene DOID:9008939 Breast Neoplasms ISO RGD:1351673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1560401 Reep3 receptor accessory protein 3 gene DOID:0060224 atrial fibrillation ISO RGD:1603350 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1560401 Reep3 receptor accessory protein 3 gene DOID:12849 autistic disorder ISO RGD:1603350 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 1560401 Reep3 receptor accessory protein 3 gene DOID:630 genetic disease ISO RGD:1603350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1349767 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1349767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:7240710 20140903 OMIM 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:10797435|PMID:16199547|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22740598|PMID:22824638|PMID:22864630|PMID:23107375|PMID:23243084|PMID:23289980|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26633542|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:28824526|PMID:29053833|PMID:29287867|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31064337|PMID:31152317|PMID:32827528|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496|PMID:9536098 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1349767 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:4621 holoprosencephaly ISO RGD:1349767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1560410 Slc52a2 solute carrier family 52 member 2 gene DOID:630 genetic disease ISO RGD:1349767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797435|PMID:22740598|PMID:22864630|PMID:23107375|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31152317|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496 1560411 Tspan18 tetraspanin 18 gene DOID:1059 intellectual disability ISO RGD:1605907 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560411 Tspan18 tetraspanin 18 gene DOID:5419 schizophrenia ISO RGD:1605907 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 1560411 Tspan18 tetraspanin 18 gene DOID:630 genetic disease ISO RGD:1605907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560420 Amer3 APC membrane recruitment protein 3 gene DOID:5419 schizophrenia ISO RGD:1601927 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560420 Amer3 APC membrane recruitment protein 3 gene DOID:630 genetic disease ISO RGD:1601927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560420 Amer3 APC membrane recruitment protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601927 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560420 Amer3 APC membrane recruitment protein 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601927 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 1560421 Nemp2 nuclear envelope integral membrane protein 2 gene DOID:0111944 immunodeficiency 31B ISO RGD:2293905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1560421 Nemp2 nuclear envelope integral membrane protein 2 gene DOID:630 genetic disease ISO RGD:2293905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560421 Nemp2 nuclear envelope integral membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293905 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560424 Padi6 peptidyl arginine deiminase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354366 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1560424 Padi6 peptidyl arginine deiminase 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354366 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 1560424 Padi6 peptidyl arginine deiminase 6 gene DOID:630 genetic disease ISO RGD:1354366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560424 Padi6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:7240710 20190315 OMIM 1560424 Padi6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 PMID:25741868|PMID:27545678|PMID:34987164 1560427 Dusp21 dual specificity phosphatase 21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343692 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560427 Dusp21 dual specificity phosphatase 21 gene DOID:0080006 bone development disease ISO RGD:1343692 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1560427 Dusp21 dual specificity phosphatase 21 gene DOID:12849 autistic disorder ISO RGD:1343692 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560427 Dusp21 dual specificity phosphatase 21 gene DOID:630 genetic disease ISO RGD:1343692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560427 Dusp21 dual specificity phosphatase 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343692 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560427 Dusp21 dual specificity phosphatase 21 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 1560430 Zfp94 zinc finger protein 94 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1560430 Zfp94 zinc finger protein 94 gene DOID:5419 schizophrenia ISO RGD:1354120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560430 Zfp94 zinc finger protein 94 gene DOID:630 genetic disease ISO RGD:1354120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560432 Glt8d2 glycosyltransferase 8 domain containing 2 gene DOID:630 genetic disease ISO RGD:1353062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560432 Glt8d2 glycosyltransferase 8 domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353062 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1560433 Rint1 RAD50 interactor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605055 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560433 Rint1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 1560433 Rint1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32566746 1560433 Rint1 RAD50 interactor 1 gene DOID:630 genetic disease ISO RGD:1605055 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32566746 1560433 Rint1 RAD50 interactor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fulminant hepatic failure PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32283892|PMID:33099839 1560433 Rint1 RAD50 interactor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:16199547|PMID:25741868|PMID:28492532|PMID:31204009|PMID:33471991 1560433 Rint1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32566746|PMID:33471991|PMID:9536098 1560433 Rint1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32283892|PMID:32566746|PMID:33099839|PMID:33471991|PMID:9536098 1560433 Rint1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:7240710 20191030 OMIM 1560433 Rint1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31204009|PMID:31567591|PMID:32283892|PMID:33099839|PMID:9536098 1560435 Pnma8b PNMA family member 8B gene DOID:630 genetic disease ISO RGD:2290513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560436 Airim AFG2 interacting ribosome maturation factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606277 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1560436 Airim AFG2 interacting ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1606277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560439 Klhl34 kelch-like family member 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603872 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560439 Klhl34 kelch-like family member 34 gene DOID:12849 autistic disorder ISO RGD:1603872 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560439 Klhl34 kelch-like family member 34 gene DOID:630 genetic disease ISO RGD:1603872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560439 Klhl34 kelch-like family member 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603872 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560453 Car13 carbonic anhydrase 13 gene DOID:630 genetic disease ISO RGD:1322168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560456 Ct55 cancer/testis antigen 55 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353544 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560456 Ct55 cancer/testis antigen 55 gene DOID:12849 autistic disorder ISO RGD:1353544 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560456 Ct55 cancer/testis antigen 55 gene DOID:630 genetic disease ISO RGD:1353544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560456 Ct55 cancer/testis antigen 55 gene DOID:9005480 X-Linked Spermatogenic Failure 7 ISO RGD:1353544 D RGD:7240710 20230505 OMIM 1560456 Ct55 cancer/testis antigen 55 gene DOID:9005480 X-Linked Spermatogenic Failure 7 ISO RGD:1353544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 PMID:36481789 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1607035 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:7240710 20140911 OMIM 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:7240710 20140911 OMIM 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 PMID:16199547|PMID:17576681|PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32056211|PMID:32115343|PMID:32403337|PMID:32404165|PMID:33756069|PMID:34008892|PMID:34106991|PMID:35006422|PMID:9536098 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1607035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1607035 D RGD:11530903|PMID:26310427 20180627 RGD DNA:mutations: cds:multiple 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:23768512|PMID:25326637|PMID:25741868|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:30684953|PMID:32403337|PMID:32404165 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:7240710 20140911 OMIM 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:630 genetic disease ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:35006422|PMID:9536098 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607035 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:9008086 Developmental Disabilities ISO RGD:1607035 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1560458 Gmppb GDP-mannose pyrophosphorylase B gene DOID:9884 muscular dystrophy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28456886|PMID:28478914|PMID:28492532|PMID:29437916|PMID:30060766|PMID:30069288|PMID:30257713|PMID:30684953|PMID:32115343|PMID:34106991|PMID:35006422 1560459 Gltpd2 glycolipid transfer protein domain containing 2 gene DOID:630 genetic disease ISO RGD:1604453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560468 Otud3 OTU deubiquitinase 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1560468 Otud3 OTU deubiquitinase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604042 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1560468 Otud3 OTU deubiquitinase 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1560468 Otud3 OTU deubiquitinase 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1560468 Otud3 OTU deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1604042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560468 Otud3 OTU deubiquitinase 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0050777 Joubert syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1560470 Ajm1 apical junction component 1 homolog gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:0080600 COVID-19 ISO RGD:3302853 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560470 Ajm1 apical junction component 1 homolog gene DOID:0081097 Rafiq syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1560470 Ajm1 apical junction component 1 homolog gene DOID:3652 Leigh disease ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1560470 Ajm1 apical junction component 1 homolog gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1560471 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560471 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:630 genetic disease ISO RGD:1602402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560471 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602402 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560471 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560479 Sobp sine oculis binding protein homolog gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1605982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1560479 Sobp sine oculis binding protein homolog gene DOID:630 genetic disease ISO RGD:1605982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560479 Sobp sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:7240710 20130221 OMIM 1560479 Sobp sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus PMID:17618476|PMID:18414213|PMID:21035105|PMID:25741868|PMID:28492532 1560480 Fezf1 Fez family zinc finger 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604689 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1560480 Fezf1 Fez family zinc finger 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604689 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 1560480 Fezf1 Fez family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:7240710 20160615 OMIM 1560480 Fezf1 Fez family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia PMID:25192046|PMID:25741868 1560480 Fezf1 Fez family zinc finger 1 gene DOID:13938 amenorrhea ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 1560480 Fezf1 Fez family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604689 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560480 Fezf1 Fez family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560481 Esrp1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:7240710 20190315 OMIM 1560481 Esrp1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 109 PMID:25741868|PMID:29107558 1560481 Esrp1 epithelial splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1606552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349950 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:630 genetic disease ISO RGD:1349950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1349950 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349950 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349950 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1560482 Pcdhgb1 protocadherin gamma subfamily B, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560486 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1605592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1560486 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:12849 autistic disorder ISO RGD:1605592 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560486 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:5419 schizophrenia ISO RGD:1605592 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560486 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:630 genetic disease ISO RGD:1605592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560487 Clec12b C-type lectin domain family 12, member B gene DOID:0080600 COVID-19 ISO RGD:1605796 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560487 Clec12b C-type lectin domain family 12, member B gene DOID:630 genetic disease ISO RGD:1605796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560491 Ids iduronate 2-sulfatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1560491 Ids iduronate 2-sulfatase gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1351665 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:25741868 1560491 Ids iduronate 2-sulfatase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22976778|PMID:24515576|PMID:25741868|PMID:27146977|PMID:27848944|PMID:28492532|PMID:29801497|PMID:31877959|PMID:8318991 1560491 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:12910721|PMID:27146977 20170621 RGD DNA:mutations:exon, intron:multiple 1560491 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:1599819|PMID:1550586 20070216 RGD 1560491 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:7240710 20130221 OMIM 1560491 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:34670126|PMID:35144014|PMID:35242576|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 1560491 Ids iduronate 2-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:21291454|PMID:21829674|PMID:25741868|PMID:27146977|PMID:28492532|PMID:8318991 1560491 Ids iduronate 2-sulfatase gene DOID:12849 autistic disorder ISO RGD:1351665 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560491 Ids iduronate 2-sulfatase gene DOID:630 genetic disease ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215411|PMID:10671065|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:19573456|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:22976778|PMID:24125893|PMID:24515576|PMID:24780617|PMID:25741868|PMID:26407519|PMID:27246110|PMID:27883178|PMID:28077157|PMID:28492532|PMID:29801497|PMID:31877959|PMID:7728156|PMID:7887413|PMID:8940265|PMID:9501270|PMID:9573369|PMID:9875019|PMID:9950361 1560491 Ids iduronate 2-sulfatase gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351665 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1560491 Ids iduronate 2-sulfatase gene DOID:9005172 Lung Neoplasms ISO RGD:1351665 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1560491 Ids iduronate 2-sulfatase gene DOID:9008086 Developmental Disabilities ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392|PMID:34670126 1560492 Cirop ciliated left-right organizer metallopeptidase gene DOID:9004727 Visceral Heterotaxy 12, Autosomal ISO RGD:13208685 D RGD:7240710 20220209 OMIM 1560492 Cirop ciliated left-right organizer metallopeptidase gene DOID:9004727 Visceral Heterotaxy 12, Autosomal ISO RGD:13208685 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal PMID:25741868 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1347526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24686847 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1347526 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:0080600 COVID-19 ISO RGD:1347526 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1347526 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532|PMID:34185153 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:0081013 severe COVID-19 ISO RGD:1347526 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:10283 prostate cancer ISO RGD:1347526 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:12306 vitiligo ISO RGD:1347526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:12361 Graves' disease ISO RGD:1347526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17535987 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:12849 autistic disorder ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:2365 West Nile encephalitis ISO RGD:1557966 D RGD:126781836|PMID:24173226 20210421 RGD mRNA:increased expression:brain 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:630 genetic disease ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:8893 psoriasis ISO RGD:1347526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9000371 influenza A ISO RGD:1557966 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9001488 Human Influenza ISO RGD:1347526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:7240710 20140911 OMIM 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 PMID:21070929|PMID:24686847|PMID:24995871|PMID:25243380|PMID:25620204|PMID:25741868|PMID:26284909|PMID:26833990|PMID:28319323|PMID:28492532|PMID:28605144|PMID:29782060|PMID:30219631|PMID:30593198|PMID:30965144|PMID:31178897|PMID:31898846|PMID:34185153|PMID:34539730 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:7240710 20190327 OMIM 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 1 PMID:16199547|PMID:17576681|PMID:21070929|PMID:24686847|PMID:24995871|PMID:25620204|PMID:25741868|PMID:26833990|PMID:27577878|PMID:28319323|PMID:28475458|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:29270977|PMID:30219631|PMID:30564185|PMID:30707351|PMID:31178897|PMID:31898846|PMID:33440462|PMID:34185153|PMID:34539730|PMID:9536098 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9005219 Abnormal Reflexes ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:24686847|PMID:24995871|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:7240710 20220316 OMIM 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 95 PMID:25741868|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:34185153 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9007096 Stroke ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25620204|PMID:25741868|PMID:28475458|PMID:28492532 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9007304 Singleton Merten Syndrome ISO RGD:1347526 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1560496 Ifih1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:24686847 1560499 Cd27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:7240710 20140911 OMIM 1560499 Cd27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:17576681|PMID:22197273|PMID:22801960|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645|PMID:9536098 1560499 Cd27 CD27 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353701 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1560499 Cd27 CD27 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1353701 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1560499 Cd27 CD27 molecule gene DOID:0111962 combined immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 1560499 Cd27 CD27 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1353701 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1560499 Cd27 CD27 molecule gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 1560499 Cd27 CD27 molecule gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 1560499 Cd27 CD27 molecule gene DOID:630 genetic disease ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560499 Cd27 CD27 molecule gene DOID:820 myocarditis ISO RGD:1353701 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1560499 Cd27 CD27 molecule gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:1581860|PMID:16698589 20090323 RGD 1560499 Cd27 CD27 molecule gene DOID:9007346 Cachexia ISO RGD:1353701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 1560499 Cd27 CD27 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353701 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1560499 Cd27 CD27 molecule gene DOID:934 viral infectious disease ISO RGD:1353701 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1560504 Ccdc93 coiled-coil domain containing 93 gene DOID:630 genetic disease ISO RGD:1603642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560511 Vps41 VPS41 subunit of HOPS complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353898 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560511 Vps41 VPS41 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1353898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560511 Vps41 VPS41 subunit of HOPS complex gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1353898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 1560511 Vps41 VPS41 subunit of HOPS complex gene DOID:9008984 Autosomal Recessive Spinocerebellar Ataxia 29 ISO RGD:1353898 D RGD:7240710 20210728 OMIM 1560511 Vps41 VPS41 subunit of HOPS complex gene DOID:9008984 Autosomal Recessive Spinocerebellar Ataxia 29 ISO RGD:1353898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 PMID:32808683|PMID:33764426|PMID:33851776 1560514 Aoah acyloxyacyl hydrolase gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 1560514 Aoah acyloxyacyl hydrolase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352932 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560514 Aoah acyloxyacyl hydrolase gene DOID:630 genetic disease ISO RGD:1352932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560514 Aoah acyloxyacyl hydrolase gene DOID:670 amphetamine abuse ISO RGD:1352932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1560519 Thada THADA, armadillo repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1323240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1560519 Thada THADA, armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1323240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560519 Thada THADA, armadillo repeat containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323240 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 1560520 Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352415 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560520 Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 gene DOID:12849 autistic disorder ISO RGD:1352415 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560525 Fzd8 frizzled class receptor 8 gene DOID:630 genetic disease ISO RGD:1350514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560525 Fzd8 frizzled class receptor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350514 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560537 Asb9 ankyrin repeat and SOCS box-containing 9 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1560537 Asb9 ankyrin repeat and SOCS box-containing 9 gene DOID:12849 autistic disorder ISO RGD:1344669 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560537 Asb9 ankyrin repeat and SOCS box-containing 9 gene DOID:13636 Fanconi anemia ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1560537 Asb9 ankyrin repeat and SOCS box-containing 9 gene DOID:630 genetic disease ISO RGD:1344669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560537 Asb9 ankyrin repeat and SOCS box-containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344669 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560538 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1560538 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1560538 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1560538 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560540 Klhl31 kelch-like family member 31 gene DOID:14717 centronuclear myopathy ISS RGD:1619800 D RGD:13592920 20181025 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 1560540 Klhl31 kelch-like family member 31 gene DOID:630 genetic disease ISO RGD:1348720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560541 Tmem100 transmembrane protein 100 gene DOID:630 genetic disease ISO RGD:1602475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560542 Prrg4 proline rich and Gla domain 4 gene DOID:1059 intellectual disability ISO RGD:1346309 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560542 Prrg4 proline rich and Gla domain 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1346309 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1560542 Prrg4 proline rich and Gla domain 4 gene DOID:630 genetic disease ISO RGD:1346309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560545 Cfap43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:7240710 20190315 OMIM 1560545 Cfap43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 19 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 1560545 Cfap43 cilia and flagella associated protein 43 gene DOID:10283 prostate cancer ISO RGD:1350133 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560545 Cfap43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:7240710 20200226 OMIM 1560545 Cfap43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:25741868|PMID:29449551|PMID:31004071 1560545 Cfap43 cilia and flagella associated protein 43 gene DOID:630 genetic disease ISO RGD:1350133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1560550 Mepce methylphosphate capping enzyme gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603022 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560550 Mepce methylphosphate capping enzyme gene DOID:630 genetic disease ISO RGD:1603022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560552 Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 1560552 Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604801 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 1560552 Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific gene DOID:630 genetic disease ISO RGD:1604801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560552 Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 1560552 Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific gene DOID:9270 alkaptonuria ISO RGD:1604801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1560556 Ttc6 tetratricopeptide repeat domain 6 gene DOID:0050778 Meckel syndrome ISO RGD:1323287 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 1560556 Ttc6 tetratricopeptide repeat domain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313696 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25480036|PMID:25741868|PMID:31042289 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:7240710 20170621 OMIM 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 PMID:25480036|PMID:25741868|PMID:26771056|PMID:28492532|PMID:31042289 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1313696 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:25480036|PMID:25741868|PMID:31042289 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1059 intellectual disability ISO RGD:1313696 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:10907 microcephaly ISO RGD:1313696 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:12849 autistic disorder ISO RGD:1313696 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1826 epilepsy ISO RGD:1313696 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:5426 primary ovarian insufficiency ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25480036|PMID:25741868|PMID:28492532|PMID:31042289 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:684 hepatocellular carcinoma ISS RGD:1313697 D RGD:13592920 20180518 MouseDO OMIM:114550 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9000495 Tremor ISO RGD:1313696 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1560557 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9005363 Primary Ovarian Insufficiency, Fragile X-Associated ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary ovarian insufficiency, fragile X-associated PMID:25480036|PMID:25741868|PMID:31042289 1560558 Pdzd9 PDZ domain containing 9 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 1560558 Pdzd9 PDZ domain containing 9 gene DOID:12849 autistic disorder ISO RGD:1604496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560558 Pdzd9 PDZ domain containing 9 gene DOID:5419 schizophrenia ISO RGD:1604496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560558 Pdzd9 PDZ domain containing 9 gene DOID:630 genetic disease ISO RGD:1604496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560562 Sppl2c signal peptide peptidase like 2C gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1606947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 1560562 Sppl2c signal peptide peptidase like 2C gene DOID:1059 intellectual disability ISO RGD:1606947 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560562 Sppl2c signal peptide peptidase like 2C gene DOID:630 genetic disease ISO RGD:1606947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560562 Sppl2c signal peptide peptidase like 2C gene DOID:9255 frontotemporal dementia ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 1560565 Ano9 anoctamin 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1560565 Ano9 anoctamin 9 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1560565 Ano9 anoctamin 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1560565 Ano9 anoctamin 9 gene DOID:10283 prostate cancer ISO RGD:1345920 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560565 Ano9 anoctamin 9 gene DOID:630 genetic disease ISO RGD:1345920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560566 Tmem219 transmembrane protein 219 gene DOID:0060019 coronin-1A deficiency ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1560566 Tmem219 transmembrane protein 219 gene DOID:0060041 autism spectrum disorder ISO RGD:1604542 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1560566 Tmem219 transmembrane protein 219 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1604542 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1560566 Tmem219 transmembrane protein 219 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1604542 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1560566 Tmem219 transmembrane protein 219 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1560566 Tmem219 transmembrane protein 219 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1604542 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1560566 Tmem219 transmembrane protein 219 gene DOID:12849 autistic disorder ISO RGD:1604542 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560566 Tmem219 transmembrane protein 219 gene DOID:1882 atrial heart septal defect ISO RGD:1604542 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1560566 Tmem219 transmembrane protein 219 gene DOID:5419 schizophrenia ISO RGD:1604542 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560566 Tmem219 transmembrane protein 219 gene DOID:630 genetic disease ISO RGD:1604542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560566 Tmem219 transmembrane protein 219 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604542 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560566 Tmem219 transmembrane protein 219 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1560566 Tmem219 transmembrane protein 219 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1604542 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1560576 Cdhr2 cadherin-related family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1560576 Cdhr2 cadherin-related family member 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1560576 Cdhr2 cadherin-related family member 2 gene DOID:630 genetic disease ISO RGD:1606556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560576 Cdhr2 cadherin-related family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606556 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1560576 Cdhr2 cadherin-related family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606556 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1560577 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1560577 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:2841 asthma ISO RGD:1352369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21150878|PMID:25256354 1560577 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:630 genetic disease ISO RGD:1352369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560577 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:8577 ulcerative colitis ISO RGD:1352369 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 1560582 Phox2b paired-like homeobox 2b gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:11058834|PMID:24799442 20170620 RGD DNA:duplication: :c.691_698dup (human) 1560582 Phox2b paired-like homeobox 2b gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12640453|PMID:14608649 1560582 Phox2b paired-like homeobox 2b gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:12910557|PMID:19201717 20170620 RGD DNA:repeats 1560582 Phox2b paired-like homeobox 2b gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease PMID:10613788|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:19011468|PMID:20208042|PMID:20301600|PMID:20456320|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26063465|PMID:27153395|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29704303|PMID:30672101|PMID:32573669|PMID:34298581 1560582 Phox2b paired-like homeobox 2b gene DOID:10487 Hirschsprung's disease ISO RGD:1347823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1560582 Phox2b paired-like homeobox 2b gene DOID:2394 ovarian cancer ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1560582 Phox2b paired-like homeobox 2b gene DOID:630 genetic disease ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12640453|PMID:14566559|PMID:14608649|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15657873|PMID:16888290|PMID:19058226|PMID:19422034|PMID:20208042|PMID:20301600|PMID:24033266|PMID:24169930|PMID:25741868|PMID:26063465|PMID:28371199|PMID:29531718 1560582 Phox2b paired-like homeobox 2b gene DOID:769 neuroblastoma ISO RGD:1347823 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:25174395|PMID:30127528 1560582 Phox2b paired-like homeobox 2b gene DOID:769 neuroblastoma ISO RGD:1347823 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Neuroblastoma 1560582 Phox2b paired-like homeobox 2b gene DOID:769 neuroblastoma exacerbates ISO RGD:1347823 D RGD:151667442|PMID:26840262 20220408 RGD human cell line in a mouse model 1560582 Phox2b paired-like homeobox 2b gene DOID:8778 Crohn's disease ISO RGD:1347823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 1560582 Phox2b paired-like homeobox 2b gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:7240710 20220413 OMIM 1560582 Phox2b paired-like homeobox 2b gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:10613788|PMID:12640453|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15888479|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16443855|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17576681|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:18292934|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29098737|PMID:29543228|PMID:29641532|PMID:29696799|PMID:29704303|PMID:30092902|PMID:30672101|PMID:33958749|PMID:9536098 1560582 Phox2b paired-like homeobox 2b gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1347823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1560582 Phox2b paired-like homeobox 2b gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:7240710 20230505 OMIM 1560582 Phox2b paired-like homeobox 2b gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 PMID:12640453|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:17637745|PMID:17765533|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:25741868|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28492532|PMID:28873162 1560582 Phox2b paired-like homeobox 2b gene DOID:9001466 Hirschsprung Disease Ganglioneuroblastoma ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma PMID:11953745|PMID:12438263|PMID:15024693|PMID:15338462|PMID:17637745|PMID:20089899|PMID:23754957|PMID:23873030 1560582 Phox2b paired-like homeobox 2b gene DOID:9003671 Hypoventilation ISO RGD:1347823 D RGD:1599147|PMID:14566559 20070117 RGD 1560582 Phox2b paired-like homeobox 2b gene DOID:9003671 Hypoventilation ISO RGD:1347823 D RGD:1599148|PMID:12640453 20070117 RGD 1560582 Phox2b paired-like homeobox 2b gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347823 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11953745|PMID:12438263|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34298581|PMID:9536098 1560582 Phox2b paired-like homeobox 2b gene DOID:9256 colorectal cancer ISO RGD:1347823 D RGD:152025258|PMID:22552777 20220502 RGD DNA:hypermethylation: : (human) 1560583 Ccdc34 coiled-coil domain containing 34 gene DOID:0111910 spermatogenic failure ISS RGD:1619187 D RGD:13592920 20230323 MouseDO 1560583 Ccdc34 coiled-coil domain containing 34 gene DOID:1059 intellectual disability ISO RGD:1606993 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560583 Ccdc34 coiled-coil domain containing 34 gene DOID:630 genetic disease ISO RGD:1606993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560583 Ccdc34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:7240710 20221102 OMIM 1560583 Ccdc34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 76 PMID:34348960 1560587 Epha4 Eph receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1345605 D RGD:6218956|PMID:19542617 20120307 RGD protein:decreased expression:hippocampus 1560587 Epha4 Eph receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1558389 D RGD:6218956|PMID:19542617 20120307 RGD protein:decreased expression:hippocampus 1560587 Epha4 Eph receptor A4 gene DOID:3602 toxic encephalopathy IEP D RGD:5688752|PMID:10336070 20120305 RGD 1560587 Epha4 Eph receptor A4 gene DOID:630 genetic disease ISO RGD:1345605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560587 Epha4 Eph receptor A4 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5688782|PMID:17418490 20120306 RGD 1560587 Epha4 Eph receptor A4 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5688750|PMID:17970742 20120305 RGD 1560587 Epha4 Eph receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558389 D RGD:5688764|PMID:21931787 20120306 RGD 1560587 Epha4 Eph receptor A4 gene DOID:9000998 Brain Injuries ISO RGD:1345605 D RGD:5688763|PMID:22318127 20120306 RGD protein:increased expression, increased activity:astrocyte 1560587 Epha4 Eph receptor A4 gene DOID:9001793 Generalized Epilepsy ISO RGD:1345605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 1560587 Epha4 Eph receptor A4 gene DOID:9002211 Hyperalgesia IMP D RGD:5688783|PMID:16959251 20120306 RGD associated with spinal cord injuries; 1560587 Epha4 Eph receptor A4 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:5688765|PMID:21736568 20120306 RGD protein:increased expression:brain 1560587 Epha4 Eph receptor A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345605 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560587 Epha4 Eph receptor A4 gene DOID:9007402 Gliosis ISO RGD:1558389 D RGD:5688771|PMID:15537875 20120306 RGD associated with spinal cord injuries; 1560587 Epha4 Eph receptor A4 gene DOID:9007402 Gliosis no_association ISO RGD:1558389 D RGD:5688772|PMID:20170651 20120306 RGD associated with spinal cord injuries; 1560591 Snx32 sorting nexin 32 gene DOID:0080600 COVID-19 ISO RGD:1605258 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560591 Snx32 sorting nexin 32 gene DOID:1059 intellectual disability ISO RGD:1605258 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560591 Snx32 sorting nexin 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1560591 Snx32 sorting nexin 32 gene DOID:2746 glycogen storage disease V ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1560591 Snx32 sorting nexin 32 gene DOID:630 genetic disease ISO RGD:1605258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560591 Snx32 sorting nexin 32 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1560591 Snx32 sorting nexin 32 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1560591 Snx32 sorting nexin 32 gene DOID:9008939 Breast Neoplasms ISO RGD:1605258 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1560596 Trim24 tripartite motif-containing 24 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1350727 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27238081 1560596 Trim24 tripartite motif-containing 24 gene DOID:2394 ovarian cancer ISO RGD:1350727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1560596 Trim24 tripartite motif-containing 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350727 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560596 Trim24 tripartite motif-containing 24 gene DOID:630 genetic disease ISO RGD:1350727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560596 Trim24 tripartite motif-containing 24 gene DOID:684 hepatocellular carcinoma ISO RGD:1350727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 1560596 Trim24 tripartite motif-containing 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560596 Trim24 tripartite motif-containing 24 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1555981 D RGD:1599658|PMID:10439047 20070209 RGD papillary thyroid carcinoma, OMIM:188550 1560598 Styxl2 serine/threonine/tyrosine interacting like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603599 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560598 Styxl2 serine/threonine/tyrosine interacting like 2 gene DOID:630 genetic disease ISO RGD:1603599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560598 Styxl2 serine/threonine/tyrosine interacting like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603599 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560600 C1d C1D nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1607075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560601 Kdm5c lysine demethylase 5C gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349337 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 1560601 Kdm5c lysine demethylase 5C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349337 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560601 Kdm5c lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:7240710 20131127 OMIM 1560601 Kdm5c lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:10982473|PMID:15586325|PMID:1605217|PMID:16538222|PMID:16541399|PMID:17244608|PMID:18203167|PMID:18414213|PMID:18697827|PMID:19826449|PMID:21575681|PMID:23356856|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25741873|PMID:27959697|PMID:28492532|PMID:28708303|PMID:29304373|PMID:31419599|PMID:32279304|PMID:34356104|PMID:36672956 1560601 Kdm5c lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:9587779|PMID:22326837 20141017 RGD DNA:snp:cds:c.2T>C (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1560601 Kdm5c lysine demethylase 5C gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 1560601 Kdm5c lysine demethylase 5C gene DOID:10534 stomach cancer ISO RGD:1349337 D RGD:151361174|PMID:26858085 20220227 RGD mRNA:increased expression:stomach (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:1059 intellectual disability ISO RGD:1349337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 1560601 Kdm5c lysine demethylase 5C gene DOID:1059 intellectual disability ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:32581362 1560601 Kdm5c lysine demethylase 5C gene DOID:12190 descending colon cancer onset ISO RGD:1349337 D RGD:151361178|PMID:30018131 20220227 RGD associate with colorectal cancer;DNA:mutations:multiple (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:12849 autistic disorder ISO RGD:1349337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18203167 1560601 Kdm5c lysine demethylase 5C gene DOID:12849 autistic disorder ISO RGD:1349337 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560601 Kdm5c lysine demethylase 5C gene DOID:12858 Huntington's disease ISO RGD:1349337 D RGD:9587806|PMID:23872847 20141020 RGD mRNA:increased expression:caudate nucleus (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:1612 breast cancer severity ISO RGD:1349337 D RGD:9586031|PMID:22199269 20141003 RGD mRNA:altered expression:breast (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:1826 epilepsy ISO RGD:1349337 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1560601 Kdm5c lysine demethylase 5C gene DOID:219 colon cancer ISO RGD:1349337 D RGD:151361176|PMID:33042830 20220227 RGD mRNA:increased expression:colon (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:4450 renal cell carcinoma ISO RGD:1349337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1560601 Kdm5c lysine demethylase 5C gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:decreased expression:bile duct (human) PMID:32714863|REF_RGD_ID:151361175 1560601 Kdm5c lysine demethylase 5C gene DOID:5419 schizophrenia IEP D RGD:9586022|PMID:23932495 20141017 RGD protein:increased expression:prefrontal cortex (rat) 1560601 Kdm5c lysine demethylase 5C gene DOID:607 paraplegia ISO RGD:1349337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15586325|PMID:16199547|PMID:18414213|PMID:18697827|PMID:22326837|PMID:23356856|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26863999|PMID:26934580|PMID:27959697|PMID:28492532|PMID:29304373|PMID:29670509|PMID:32279304 1560601 Kdm5c lysine demethylase 5C gene DOID:630 genetic disease ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15586325|PMID:1605217|PMID:17244608|PMID:17468742|PMID:18414213|PMID:18697827|PMID:19826449|PMID:20181063|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25666439|PMID:25741868|PMID:26467025|PMID:27214403|PMID:28492532|PMID:28708303|PMID:31912665|PMID:32279304 1560601 Kdm5c lysine demethylase 5C gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1349337 D RGD:11530160|PMID:26503415 20220227 RGD protein:increased expression:liver (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349337 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560601 Kdm5c lysine demethylase 5C gene DOID:9004507 Hirsutism ISO RGD:1349337 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hirsutism 1560601 Kdm5c lysine demethylase 5C gene DOID:9004603 Atkin Syndrome ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 1560601 Kdm5c lysine demethylase 5C gene DOID:9005219 Abnormal Reflexes ISO RGD:1349337 D RGD:9587807|PMID:18697827 20141020 RGD DNA:missense mutations, frameshift mutations:multiple (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:9008582 Developmental Disease ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28708303 1560601 Kdm5c lysine demethylase 5C gene DOID:9256 colorectal cancer ISO RGD:1349337 D RGD:151361177|PMID:32552762 20220227 RGD mRNA:increased expression:colorectum (human) 1560601 Kdm5c lysine demethylase 5C gene DOID:9538 multiple myeloma ISO RGD:1349337 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1560602 Tas2r137 taste receptor, type 2, member 137 gene DOID:0080690 RASopathy ISO RGD:1345631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1560602 Tas2r137 taste receptor, type 2, member 137 gene DOID:630 genetic disease ISO RGD:1345631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560602 Tas2r137 taste receptor, type 2, member 137 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1345631 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345894 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:12849 autistic disorder ISO RGD:1345894 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:630 genetic disease ISO RGD:1345894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1345894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868 1560603 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345894 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560606 Utp20 UTP20 small subunit processome component gene DOID:630 genetic disease ISO RGD:1607048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560608 Lbhd2 LBH domain containing 2 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:13440437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1560609 Vnn3 vanin 3 gene DOID:8893 psoriasis ISO RGD:1351839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 1560612 Phf21a PHD finger protein 21A gene DOID:0050444 infantile Refsum disease ISO RGD:1354499 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1560612 Phf21a PHD finger protein 21A gene DOID:0060041 autism spectrum disorder ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1560612 Phf21a PHD finger protein 21A gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1560612 Phf21a PHD finger protein 21A gene DOID:1059 intellectual disability ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 1560612 Phf21a PHD finger protein 21A gene DOID:4001 ovarian carcinoma ISO RGD:1354499 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 1560612 Phf21a PHD finger protein 21A gene DOID:630 genetic disease ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560612 Phf21a PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:7240710 20200226 OMIM 1560612 Phf21a PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 1560612 Phf21a PHD finger protein 21A gene DOID:905 Zellweger syndrome ISO RGD:1354499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia IMP D RGD:11564351|PMID:22076441 20161116 RGD 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9883725|PMID:11914408 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:11565112|PMID:11532987 20161121 RGD DNA:mutations:multiple (human) 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:11565137|PMID:23873601 20161121 RGD DNA:deletion:cds:c.7941_7942delCT (human) 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:1598953|PMID:9883725 20070105 RGD DNA:mutations:multiple (human) 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:7240710 20160113 OMIM 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10982489|PMID:10982965|PMID:11532987|PMID:11914408|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19773341|PMID:20014127|PMID:20186808|PMID:20598277|PMID:20730588|PMID:20844545|PMID:21520333|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24098143|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28425981|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29024177|PMID:29168297|PMID:29706646|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30561107|PMID:30986657|PMID:31064749|PMID:32738303|PMID:33448881|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9536098|PMID:9800904|PMID:9883725 1560614 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11748843|PMID:11914408|PMID:11968085|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:28898549|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30293987|PMID:30561107|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31625567|PMID:31919883|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725 1560614 Flna filamin A gene DOID:0050476 Barth syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560614 Flna filamin A gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1354471 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 1560614 Flna filamin A gene DOID:0050800 creatine transporter deficiency ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1560614 Flna filamin A gene DOID:0060180 colitis ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:30755392 1560614 Flna filamin A gene DOID:0060249 scoliosis ISO RGD:1354471 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:28492532 1560614 Flna filamin A gene DOID:0060327 omphalocele ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 1560614 Flna filamin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354471 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1560614 Flna filamin A gene DOID:0060889 prune belly syndrome ISO RGD:1354471 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Prune belly syndrome 1560614 Flna filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:7240710 20130731 OMIM 1560614 Flna filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:30986657 1560614 Flna filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:11565121|PMID:17190868 20161121 RGD DNA:missense mutations, deletion:cds, exons, introns:multiple (human) 1560614 Flna filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:7240710 20130221 OMIM 1560614 Flna filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:20301567|PMID:22522697|PMID:240645|PMID:24088041|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27739212|PMID:28492532|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30986657|PMID:32738303|PMID:8230166|PMID:9497244|PMID:9536098 1560614 Flna filamin A gene DOID:0111782 otopalatodigital syndrome spectrum disorder ISO RGD:1354471 D RGD:11565126|PMID:15654694 20161121 RGD DNA:deletion:cds:c.4904_4912del (human) 1560614 Flna filamin A gene DOID:0111782 otopalatodigital syndrome spectrum disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder PMID:15654694|PMID:16596676 1560614 Flna filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12612583|PMID:15940695|PMID:16596676 1560614 Flna filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:1598954|PMID:12612583 20161123 RGD DNA:missense mutation:cds:p.P207L (human) 1560614 Flna filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:7240710 20130221 OMIM 1560614 Flna filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I PMID:10982489|PMID:11704759|PMID:11992261|PMID:12612583|PMID:15194946|PMID:15917206|PMID:15940695|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17264970|PMID:18414213|PMID:20301567|PMID:20979190|PMID:22465605|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300383|PMID:30143558|PMID:30986657|PMID:31942422|PMID:6019437 1560614 Flna filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12612583|PMID:15378534 1560614 Flna filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:1598954|PMID:12612583 20161123 RGD DNA:missense mutation:cds:p.E254K (human) 1560614 Flna filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:7240710 20130221 OMIM 1560614 Flna filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 1560614 Flna filamin A gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354471 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism PMID:12612583|PMID:16596676 1560614 Flna filamin A gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 1560614 Flna filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:11063279|PMID:16835913 20161121 RGD DNA:missense mutations, deletions:cds:multiple (human) 1560614 Flna filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:7240710 20130221 OMIM 1560614 Flna filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 PMID:10982489|PMID:12612583|PMID:15523633|PMID:15917206|PMID:16417552|PMID:16596676|PMID:16822260|PMID:16835913|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30986657|PMID:9071288 1560614 Flna filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:7240710 20200408 OMIM 1560614 Flna filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 1560614 Flna filamin A gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 1560614 Flna filamin A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1560614 Flna filamin A gene DOID:0112003 immunodeficiency 33 ISO RGD:1354471 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1560614 Flna filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:7240710 20130731 OMIM 1560614 Flna filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome PMID:10982489|PMID:10982965|PMID:12612583|PMID:15864382|PMID:16417552|PMID:16822260|PMID:17152064|PMID:17576681|PMID:18414213|PMID:20301567|PMID:20598277|PMID:22522697|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26467025|PMID:28492532|PMID:30561107|PMID:30986657|PMID:31919883|PMID:9536098|PMID:9800904 1560614 Flna filamin A gene DOID:10588 adrenoleukodystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560614 Flna filamin A gene DOID:1059 intellectual disability ISO RGD:1354471 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:10907 microcephaly ISO RGD:1354471 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:11111 hydronephrosis ISO RGD:1354471 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:28492532 1560614 Flna filamin A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560614 Flna filamin A gene DOID:11830 myopia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myopia PMID:28492532 1560614 Flna filamin A gene DOID:12849 autistic disorder ISO RGD:1354471 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560614 Flna filamin A gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354471 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868 1560614 Flna filamin A gene DOID:13515 tuberous sclerosis ISO RGD:1354471 D RGD:11565117|PMID:25277454 20161121 RGD protein:increased expression:prefrontal cortex (human) 1560614 Flna filamin A gene DOID:13620 patent foramen ovale ISO RGD:1354471 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 1560614 Flna filamin A gene DOID:13628 favism ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1560614 Flna filamin A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:6019437|PMID:9536098 1560614 Flna filamin A gene DOID:14323 Marfan syndrome ISO RGD:1354471 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 1560614 Flna filamin A gene DOID:14711 FG syndrome ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632775 1560614 Flna filamin A gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354471 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type 1560614 Flna filamin A gene DOID:1588 thrombocytopenia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392 1560614 Flna filamin A gene DOID:1657 ventricular septal defect ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:28492532 1560614 Flna filamin A gene DOID:1682 congenital heart disease ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1560614 Flna filamin A gene DOID:1826 epilepsy ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11914408 1560614 Flna filamin A gene DOID:1826 epilepsy ISO RGD:1354471 D RGD:11565133|PMID:18596546 20161121 RGD protein:increased expression:cerebral cortex, astrocyte, perinuclear region of cytoplasm (human) 1560614 Flna filamin A gene DOID:1826 epilepsy ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 1560614 Flna filamin A gene DOID:1923 disorder of sexual development ISO RGD:1354471 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:2213 hemorrhagic disease ISO RGD:1354471 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:26467025|PMID:28492532 1560614 Flna filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12612583 1560614 Flna filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:11565455|PMID:25755106 20161123 RGD associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human) 1560614 Flna filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:1598954|PMID:12612583 20070105 RGD Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human) 1560614 Flna filamin A gene DOID:2340 craniosynostosis ISO RGD:1354471 D RGD:11531800|PMID:25873011 20161121 RGD DNA:missense mutations:cds:multiple (human) 1560614 Flna filamin A gene DOID:2729 dyskeratosis congenita ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1560614 Flna filamin A gene DOID:3627 aortic aneurysm ISO RGD:1354471 D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 1560614 Flna filamin A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1354471 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 1560614 Flna filamin A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354471 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1560614 Flna filamin A gene DOID:607 paraplegia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560614 Flna filamin A gene DOID:630 genetic disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26404489|PMID:28492532|PMID:30293987|PMID:30391507|PMID:31625567|PMID:33077954|PMID:34863227 1560614 Flna filamin A gene DOID:65 connective tissue disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:18805826|PMID:21520333|PMID:21836662|PMID:25741868|PMID:26404489|PMID:26467025|PMID:28492532 1560614 Flna filamin A gene DOID:674 cleft palate ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:31942422|PMID:6019437 1560614 Flna filamin A gene DOID:687 hepatoblastoma ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 1560614 Flna filamin A gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1354471 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:18414213|PMID:25677497|PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:850 lung disease ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:18414213|PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1560614 Flna filamin A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560614 Flna filamin A gene DOID:9001665 Aneurysm ISO RGD:1354471 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 1560614 Flna filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:7240710 20200226 OMIM 1560614 Flna filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FG syndrome 2 PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:17632775|PMID:18414213|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28492532|PMID:29720203|PMID:30089473|PMID:30986657 1560614 Flna filamin A gene DOID:9002720 Splenomegaly ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1560614 Flna filamin A gene DOID:9002914 Familial Sudden Death ISO RGD:1354471 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:9003646 Arterial Thrombosis ISO RGD:1354471 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Arterial thrombosis PMID:25741868 1560614 Flna filamin A gene DOID:9004240 Phyllodes Tumor ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 1560614 Flna filamin A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354471 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560614 Flna filamin A gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15668422 1560614 Flna filamin A gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 1560614 Flna filamin A gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:9071288|PMID:9536098 1560614 Flna filamin A gene DOID:9005603 Muscle Hypotonia ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 1560614 Flna filamin A gene DOID:9007096 Stroke ISO RGD:1354471 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 1560614 Flna filamin A gene DOID:9007661 Dwarfism ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:31942422|PMID:6019437 1560614 Flna filamin A gene DOID:9008086 Developmental Disabilities ISO RGD:1354471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16684786|PMID:20730588|PMID:25741868|PMID:26471271|PMID:28492532|PMID:36937954 1560614 Flna filamin A gene DOID:9008939 Breast Neoplasms ISO RGD:1354471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 1560614 Flna filamin A gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:25741868|PMID:28492532|PMID:30755392 1560614 Flna filamin A gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1354471 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:28492532 1560614 Flna filamin A gene DOID:988 mitral valve prolapse ISO RGD:1354471 D RGD:11565119|PMID:24243761 20161121 RGD DNA:missense mutation:cds:p.G288R (human) 1560615 Plxnb3 plexin B3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560615 Plxnb3 plexin B3 gene DOID:0050476 Barth syndrome ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560615 Plxnb3 plexin B3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1560615 Plxnb3 plexin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1560615 Plxnb3 plexin B3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1350171 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 1560615 Plxnb3 plexin B3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 1560615 Plxnb3 plexin B3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350171 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1560615 Plxnb3 plexin B3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560615 Plxnb3 plexin B3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560615 Plxnb3 plexin B3 gene DOID:12849 autistic disorder ISO RGD:1350171 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560615 Plxnb3 plexin B3 gene DOID:13628 favism ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1560615 Plxnb3 plexin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1560615 Plxnb3 plexin B3 gene DOID:607 paraplegia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560615 Plxnb3 plexin B3 gene DOID:630 genetic disease ISO RGD:1350171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560615 Plxnb3 plexin B3 gene DOID:9002720 Splenomegaly ISO RGD:1350171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1560615 Plxnb3 plexin B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350171 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560616 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:10283 prostate cancer ISO RGD:1347183 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560616 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:1059 intellectual disability ISO RGD:1347183 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560616 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347183 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560616 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:630 genetic disease ISO RGD:1347183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560620 Zfp827 zinc finger protein 827 gene DOID:0060041 autism spectrum disorder ISO RGD:1606144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1560620 Zfp827 zinc finger protein 827 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1606144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1560620 Zfp827 zinc finger protein 827 gene DOID:630 genetic disease ISO RGD:1606144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1603235 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:0050712 AGAT deficiency ISO RGD:1603235 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:7240710 20130221 OMIM 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31044655|PMID:32252219|PMID:32860008 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1603235 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1603235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:32252219 1560628 Duoxa2 dual oxidase maturation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1603235 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560629 Atpsckmt ATP synthase c subunit lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1603183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560634 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1560634 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344109 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560634 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:630 genetic disease ISO RGD:1344109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560634 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344109 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560635 Itgbl1 integrin subunit beta like 1 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1348863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:25741868 1560635 Itgbl1 integrin subunit beta like 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1560635 Itgbl1 integrin subunit beta like 1 gene DOID:14701 propionic acidemia ISO RGD:1348863 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1560635 Itgbl1 integrin subunit beta like 1 gene DOID:630 genetic disease ISO RGD:1348863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560635 Itgbl1 integrin subunit beta like 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348863 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1560636 Sfi1 SFI1 centrin binding protein gene DOID:630 genetic disease ISO RGD:1347387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560637 Klrc3 killer cell lectin like receptor C3 gene DOID:630 genetic disease ISO RGD:1346640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560638 Exoc6b exocyst complex component 6B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1560638 Exoc6b exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:7240710 20190515 OMIM 1560638 Exoc6b exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 PMID:25741868|PMID:26669664|PMID:30284759 1560638 Exoc6b exocyst complex component 6B gene DOID:5419 schizophrenia ISO RGD:1349809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1560638 Exoc6b exocyst complex component 6B gene DOID:543 dystonia ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1560638 Exoc6b exocyst complex component 6B gene DOID:630 genetic disease ISO RGD:1349809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560638 Exoc6b exocyst complex component 6B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1560642 Mcph1 microcephalin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349111 D RGD:9589036|PMID:23472065 20141105 RGD mRNA:protein:decreased expression:oral cavity, tissue (human) 1560642 Mcph1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:7240710 20141015 OMIM 1560642 Mcph1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:11857108|PMID:12046007|PMID:15199523|PMID:16199547|PMID:16311745|PMID:16783362|PMID:18414213|PMID:20101680|PMID:20301772|PMID:20949544|PMID:20978018|PMID:22139841|PMID:22154951|PMID:22908299|PMID:23281133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:32714618|PMID:34402213|PMID:7693575 1560642 Mcph1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:9589022|PMID:15199523 20141105 RGD DNA:insertion:exon:c.427insA (human) 1560642 Mcph1 microcephalin 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1349111 D RGD:13204748|PMID:22775483 20170718 RGD DNA:deletion: :p.R393Sfs*50 (human) 1560642 Mcph1 microcephalin 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1349111 D RGD:13204750|PMID:20978018 20170718 RGD DNA:mutations:exon, intron:multiple 1560642 Mcph1 microcephalin 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 1560642 Mcph1 microcephalin 1 gene DOID:1059 intellectual disability ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20949544|PMID:25741868|PMID:26467025|PMID:28492532 1560642 Mcph1 microcephalin 1 gene DOID:10907 microcephaly ISO RGD:1349111 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:25741868 1560642 Mcph1 microcephalin 1 gene DOID:10907 microcephaly ISO RGD:1349111 D RGD:9589021|PMID:12046007 20141105 RGD DNA:nonsense mutation:cds:p.S25X (human) 1560642 Mcph1 microcephalin 1 gene DOID:10907 microcephaly ISO RGD:1557042 D RGD:13204745|PMID:23683352 20170718 RGD 1560642 Mcph1 microcephalin 1 gene DOID:10907 microcephaly ISS RGD:1557042 D RGD:13592920 20180518 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 1560642 Mcph1 microcephalin 1 gene DOID:10907 microcephaly no_association ISO RGD:1349111 D RGD:13204744|PMID:19267414 20170718 RGD DNA:SNP: :c.940G>C (g.37995G>C) (human) 1560642 Mcph1 microcephalin 1 gene DOID:1380 endometrial cancer ISO RGD:1349111 D RGD:9589018|PMID:20638839 20141105 RGD DNA:deletions:exons:multiple (human) 1560642 Mcph1 microcephalin 1 gene DOID:1612 breast cancer severity ISO RGD:1349111 D RGD:9589038|PMID:23296058 20141105 RGD DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human) 1560642 Mcph1 microcephalin 1 gene DOID:4451 renal carcinoma ISO RGD:1349111 D RGD:9589037|PMID:25197360 20141105 RGD protein:decreased expression:kidney (human) 1560642 Mcph1 microcephalin 1 gene DOID:630 genetic disease ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1560642 Mcph1 microcephalin 1 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:1349111 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 1560642 Mcph1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349111 D RGD:9589035|PMID:16872911 20141105 RGD mRNA:decreased expression:ovary (human) 1560642 Mcph1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1349111 D RGD:13204746|PMID:24830737 20170718 RGD protein:decreased expression:ovary, nucleus 1560642 Mcph1 microcephalin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349111 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1560642 Mcph1 microcephalin 1 gene DOID:9007661 Dwarfism ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 1560642 Mcph1 microcephalin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349111 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1560642 Mcph1 microcephalin 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1349111 D RGD:9589027|PMID:20632086 20141105 RGD protein:decreased expression:breast (human) 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:7240710 20140911 OMIM 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:24035193|PMID:25741868|PMID:28492532|PMID:28574218|PMID:29593478 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:1148 polydactyly ISO RGD:1607034 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:630 genetic disease ISO RGD:1607034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:24035193 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607034 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560644 Gmppa GDP-mannose pyrophosphorylase A gene DOID:9008086 Developmental Disabilities ISO RGD:1607034 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24035193 1560646 Myo6 myosin VI gene DOID:0050563 nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:33279834 1560646 Myo6 myosin VI gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 1560646 Myo6 myosin VI gene DOID:0080600 COVID-19 ISO RGD:1352294 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560646 Myo6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:7240710 20130221 OMIM 1560646 Myo6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 37 PMID:11167014|PMID:12687499|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33724713|PMID:9536098 1560646 Myo6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:7240710 20130221 OMIM 1560646 Myo6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 PMID:11167014|PMID:11468689|PMID:12687499|PMID:15123708|PMID:16199547|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33724713|PMID:35802133|PMID:36633841|PMID:9536098 1560646 Myo6 myosin VI gene DOID:10003 sensorineural hearing loss ISO RGD:1352294 D RGD:1600556|PMID:11468689 20070314 RGD DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y 1560646 Myo6 myosin VI gene DOID:10283 prostate cancer ISO RGD:1352294 D RGD:2314956|PMID:18543251 20091209 RGD protein:increased expression:prostate gland epithelium, perinuclear region of cytoplasm 1560646 Myo6 myosin VI gene DOID:10763 hypertension IDA D RGD:2314963|PMID:16107581 20091210 RGD protein:altered localization:renal proximal tubule, microvillus 1560646 Myo6 myosin VI gene DOID:12336 male infertility ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 1560646 Myo6 myosin VI gene DOID:2394 ovarian cancer disease_progression ISO RGD:1352294 D RGD:2314958|PMID:15146066 20091210 RGD 1560646 Myo6 myosin VI gene DOID:303 substance-related disorder ISO RGD:1352294 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1560646 Myo6 myosin VI gene DOID:4990 essential tremor ISO RGD:1352294 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:33279834 1560646 Myo6 myosin VI gene DOID:630 genetic disease ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18212818|PMID:23967202|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28492532 1560646 Myo6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 1560646 Myo6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12687499|PMID:17576681|PMID:18348273|PMID:21078986|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30582396|PMID:32143290|PMID:9536098 1560646 Myo6 myosin VI gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1352294 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:25741868|PMID:28492532 1560646 Myo6 myosin VI gene DOID:9008768 Sensorineural Deafness with Hypertrophic Cardiomyopathy ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy PMID:15060111|PMID:18212818|PMID:18348273|PMID:24033266|PMID:28492532 1560649 Tas2r138 taste receptor, type 2, member 138 gene DOID:0080690 RASopathy ISO RGD:1346793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1560649 Tas2r138 taste receptor, type 2, member 138 gene DOID:1574 alcohol use disorder ISO RGD:1346793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17250611 1560649 Tas2r138 taste receptor, type 2, member 138 gene DOID:630 genetic disease ISO RGD:1346793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560649 Tas2r138 taste receptor, type 2, member 138 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:7240710 20130221 OMIM 1560649 Tas2r138 taste receptor, type 2, member 138 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Phenylthiocarbamide tasting PMID:12595690|PMID:28492532 1560649 Tas2r138 taste receptor, type 2, member 138 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1346793 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1560652 Smco3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1560652 Smco3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1560652 Smco3 single-pass membrane protein with coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1605173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560653 Fam131b family with sequence similarity 131, member B gene DOID:0080600 COVID-19 ISO RGD:1605421 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560653 Fam131b family with sequence similarity 131, member B gene DOID:630 genetic disease ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560653 Fam131b family with sequence similarity 131, member B gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 1560653 Fam131b family with sequence similarity 131, member B gene DOID:9008993 Myotonia ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 1560653 Fam131b family with sequence similarity 131, member B gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 1560656 Noc3l NOC3-like DNA replication regulator gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1316739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:18975016|PMID:20591883|PMID:23595123|PMID:24130771|PMID:24247120|PMID:25741868|PMID:26668027|PMID:28492532 1560656 Noc3l NOC3-like DNA replication regulator gene DOID:1184 nephrotic syndrome ISO RGD:1316739 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 1560656 Noc3l NOC3-like DNA replication regulator gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316739 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 1560656 Noc3l NOC3-like DNA replication regulator gene DOID:630 genetic disease ISO RGD:1316739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560660 Fkbp2 FKBP prolyl isomerase 2 gene DOID:630 genetic disease ISO RGD:1349147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560666 Wwc3 WWC family member 3 gene DOID:10283 prostate cancer ISO RGD:1601752 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560666 Wwc3 WWC family member 3 gene DOID:12849 autistic disorder ISO RGD:1601752 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560666 Wwc3 WWC family member 3 gene DOID:630 genetic disease ISO RGD:1601752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560666 Wwc3 WWC family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601752 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560667 Trim67 tripartite motif-containing 67 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1352641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1560667 Trim67 tripartite motif-containing 67 gene DOID:1540 parathyroid carcinoma ISO RGD:1352641 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560667 Trim67 tripartite motif-containing 67 gene DOID:630 genetic disease ISO RGD:1352641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560667 Trim67 tripartite motif-containing 67 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1560667 Trim67 tripartite motif-containing 67 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352641 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560671 Zscan18 zinc finger and SCAN domain containing 18 gene DOID:630 genetic disease ISO RGD:1343704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560672 Ccdc190 coiled-coil domain containing 190 gene DOID:1540 parathyroid carcinoma ISO RGD:1606402 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560672 Ccdc190 coiled-coil domain containing 190 gene DOID:630 genetic disease ISO RGD:1606402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560672 Ccdc190 coiled-coil domain containing 190 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606402 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560673 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1603858 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1560673 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1603858 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560673 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603858 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560673 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1603858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 1560675 Tmprss11f transmembrane serine protease 11F gene DOID:630 genetic disease ISO RGD:1602625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560675 Tmprss11f transmembrane serine protease 11F gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1602625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1560678 Rufy4 RUN and FYVE domain containing 4 gene DOID:630 genetic disease ISO RGD:1602820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560678 Rufy4 RUN and FYVE domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602820 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560681 Rad51b RAD51 paralog B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344706 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1560681 Rad51b RAD51 paralog B gene DOID:303 substance-related disorder ISO RGD:1344706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1560681 Rad51b RAD51 paralog B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344706 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26898890|PMID:28492532|PMID:32566746 1560681 Rad51b RAD51 paralog B gene DOID:630 genetic disease ISO RGD:1344706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560681 Rad51b RAD51 paralog B gene DOID:9000357 Male Breast Neoplasms ISO RGD:1344706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 1560681 Rad51b RAD51 paralog B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24139550|PMID:25741868|PMID:26845104|PMID:26898890|PMID:28492532 1560681 Rad51b RAD51 paralog B gene DOID:9008939 Breast Neoplasms ISO RGD:1344706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330030 1560686 Sdk1 sidekick cell adhesion molecule 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352696 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1560686 Sdk1 sidekick cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1352696 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560686 Sdk1 sidekick cell adhesion molecule 1 gene DOID:11372 megacolon ISO RGD:1352696 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1560686 Sdk1 sidekick cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1352696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560691 Camk1d calcium/calmodulin-dependent protein kinase ID gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1603628 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1560691 Camk1d calcium/calmodulin-dependent protein kinase ID gene DOID:1070 primary open angle glaucoma ISO RGD:1603628 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 1560691 Camk1d calcium/calmodulin-dependent protein kinase ID gene DOID:630 genetic disease ISO RGD:1603628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560694 Pxdn peroxidasin gene DOID:0060648 anterior segment dysgenesis ISO RGD:1607083 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1560694 Pxdn peroxidasin gene DOID:0060648 anterior segment dysgenesis ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:26694549|PMID:28492532|PMID:32499604 1560694 Pxdn peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:7240710 20170301 OMIM 1560694 Pxdn peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:17576681|PMID:21474777|PMID:21907015|PMID:24939590|PMID:25741868|PMID:26694549|PMID:28492532|PMID:9536098 1560694 Pxdn peroxidasin gene DOID:630 genetic disease ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560694 Pxdn peroxidasin gene DOID:83 cataract ISO RGD:1607083 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549|PMID:28492532 1560694 Pxdn peroxidasin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1560694 Pxdn peroxidasin gene DOID:9119 acute myeloid leukemia ISO RGD:1607083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1560696 Mob3b MOB kinase activator 3B gene DOID:630 genetic disease ISO RGD:1346999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560707 Lrrtm4 leucine rich repeat transmembrane neuronal 4 gene DOID:630 genetic disease ISO RGD:1352645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560708 Ostc oligosaccharyltransferase complex non-catalytic subunit gene DOID:0080600 COVID-19 ISO RGD:1607011 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560708 Ostc oligosaccharyltransferase complex non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1607011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560713 Apof apolipoprotein F gene DOID:630 genetic disease ISO RGD:1344329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560713 Apof apolipoprotein F gene DOID:684 hepatocellular carcinoma ISO RGD:1344329 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1560717 Tcaim T cell activation inhibitor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560724 Rfx8 regulatory factor X8 gene DOID:630 genetic disease ISO RGD:2793201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1347197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:0050777 Joubert syndrome ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1347197 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:7240710 20200930 OMIM 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:8554872 20201013 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 PMID:29361167 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1347197 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560728 Mief2 mitochondrial elongation factor 2 gene DOID:630 genetic disease ISO RGD:1347197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560732 Lims1 LIM zinc finger domain containing 1 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1313937 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 1560732 Lims1 LIM zinc finger domain containing 1 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1313937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 1560732 Lims1 LIM zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1313937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560732 Lims1 LIM zinc finger domain containing 1 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1313937 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 1560736 Slc9a9 solute carrier family 9 member A9 gene DOID:0060041 autism spectrum disorder ISS RGD:1314948 D RGD:13592920 20181025 MouseDO 1560736 Slc9a9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder ISO RGD:1314947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 1560736 Slc9a9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder ISO RGD:1314947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 16 PMID:18621663|PMID:25741868|PMID:30927234 1560736 Slc9a9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder susceptibility ISO RGD:1314947 D RGD:7240710 20190502 OMIM 1560736 Slc9a9 solute carrier family 9 member A9 gene DOID:630 genetic disease ISO RGD:1314947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560736 Slc9a9 solute carrier family 9 member A9 gene DOID:9256 colorectal cancer ISO RGD:1314947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 1560743 Elf4 E74 like ETS transcription factor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351734 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560743 Elf4 E74 like ETS transcription factor 4 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 1560743 Elf4 E74 like ETS transcription factor 4 gene DOID:12849 autistic disorder ISO RGD:1351734 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560743 Elf4 E74 like ETS transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560743 Elf4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:7240710 20220615 OMIM 1560743 Elf4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 PMID:25741868|PMID:34326534|PMID:35266071 1560744 Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C gene DOID:0060356 Vici syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1560744 Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C gene DOID:0080600 COVID-19 ISO RGD:1343595 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560744 Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C gene DOID:1059 intellectual disability ISO RGD:1343595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560744 Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C gene DOID:630 genetic disease ISO RGD:1343595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560744 Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1343595 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1560745 Commd6 COMM domain containing 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606132 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1560745 Commd6 COMM domain containing 6 gene DOID:630 genetic disease ISO RGD:1606132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560747 St6galnac2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17480010 1560747 St6galnac2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1343813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16582908|PMID:17106446|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22773737|PMID:23591405|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25366773|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:27449316|PMID:27486776|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:7240710 20171011 OMIM 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:9536098 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:10584 retinitis pigmentosa ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16582908|PMID:20120035|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:11352646|PMID:24746959 20160929 RGD 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:28991257|PMID:29261186|PMID:29806606|PMID:29947050|PMID:30335236|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32361989|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:5982971|PMID:9536098 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:630 genetic disease ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12083524|PMID:16582908|PMID:17576681|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30335236|PMID:30614526|PMID:30718709|PMID:8861908|PMID:9536098 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:8501 fundus dystrophy ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16582908|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26003401|PMID:26467025|PMID:27385962|PMID:27486776|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:30614526|PMID:30718709 1560748 Bbs10 Bardet-Biedl syndrome 10 gene DOID:9001069 Bardet-Biedl Syndrome 6/10, Digenic ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic PMID:16582908|PMID:20120035|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 1560751 Gipc2 GIPC PDZ domain containing family, member 2 gene DOID:630 genetic disease ISO RGD:1603220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560754 Iqcf5 IQ motif containing F5 gene DOID:10487 Hirschsprung's disease ISO RGD:2303477 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1560754 Iqcf5 IQ motif containing F5 gene DOID:630 genetic disease ISO RGD:2303477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0090039 torsion dystonia 6 ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:7240710 20160525 OMIM 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 73 PMID:16199547|PMID:16960811|PMID:17033958|PMID:17576681|PMID:19479962|PMID:19823584|PMID:20583299|PMID:24767253|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29140481|PMID:31228227|PMID:32770643|PMID:33576794|PMID:9536098 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:7240710 20191030 OMIM 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:23301227|PMID:24767253|PMID:25326635|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26287674|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28041643|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31536183|PMID:32770643|PMID:33576794|PMID:33673364|PMID:34580245|PMID:35848209|PMID:9536098 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111959 immunodeficiency 15B ISO RGD:1606456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17033958|PMID:19479962|PMID:19823584|PMID:20583299|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31228227|PMID:32770643|PMID:33576794|PMID:34580245 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:1606456 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21910976|PMID:25741868|PMID:28492532|PMID:29870682 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12798 mucopolysaccharidosis ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:17033958|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:25741868|PMID:27827379|PMID:28492532|PMID:31536183 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1606456 D RGD:11554173 20191105 CTD CTD Direct Evidence: marker/mechanism 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:21384162|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:26287674|PMID:26350204|PMID:27243974|PMID:28101780|PMID:28468868|PMID:28492532|PMID:29140481|PMID:31228227|PMID:31536183 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1826 epilepsy ISO RGD:1606456 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:630 genetic disease ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16960811|PMID:17033958|PMID:19479962|PMID:21910976|PMID:25741868|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:8501 fundus dystrophy ISO RGD:1606456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:25859010|PMID:26350204|PMID:27243974|PMID:27608171|PMID:28041643|PMID:28101780|PMID:28492532|PMID:28981474|PMID:31228227|PMID:32770643|PMID:33576794|PMID:35848209|PMID:9536098 1560755 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1606456 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1560757 Iqcd IQ motif containing D gene DOID:630 genetic disease ISO RGD:1346446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347613 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347613 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347613 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1347613 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1347613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560759 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1347613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 1560766 Pid1 phosphotyrosine interaction domain containing 1 gene DOID:630 genetic disease ISO RGD:1605994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560768 Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603495 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560768 Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 gene DOID:12849 autistic disorder ISO RGD:1603495 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560768 Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 gene DOID:630 genetic disease ISO RGD:1603495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560770 Stard8 StAR-related lipid transfer domain containing 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351860 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560770 Stard8 StAR-related lipid transfer domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1351860 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560770 Stard8 StAR-related lipid transfer domain containing 8 gene DOID:630 genetic disease ISO RGD:1351860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560770 Stard8 StAR-related lipid transfer domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 1560770 Stard8 StAR-related lipid transfer domain containing 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1351860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1560774 Mlxip MLX interacting protein gene DOID:630 genetic disease ISO RGD:1602332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560778 Inka1 inka box actin regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1560778 Inka1 inka box actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1602805 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560778 Inka1 inka box actin regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1560778 Inka1 inka box actin regulator 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602805 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1560780 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346004 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560780 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1346004 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 1560780 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1346004 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560780 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1346004 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1560780 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1346004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560781 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:1059 intellectual disability ISO RGD:1350536 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560781 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:630 genetic disease ISO RGD:1350536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560781 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350536 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1560781 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:9007661 Dwarfism ISO RGD:1350536 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1560783 Fam118a family with sequence similarity 118, member A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345510 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1560783 Fam118a family with sequence similarity 118, member A gene DOID:1059 intellectual disability ISO RGD:1345510 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560783 Fam118a family with sequence similarity 118, member A gene DOID:630 genetic disease ISO RGD:1345510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:0080600 COVID-19 ISO RGD:1603320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1603320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18602922|PMID:18809606|PMID:20205264|PMID:21376568|PMID:24068316|PMID:24362816|PMID:28492532 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:630 genetic disease ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603320 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29215095 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1603320 D RGD:7240710 20190315 OMIM 1560787 Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1603320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868|PMID:28492532|PMID:29215095 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:0050777 Joubert syndrome ISO RGD:1319844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:11372 megacolon ISO RGD:1319844 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:1612 breast cancer ISO RGD:1319844 D RGD:2317828|PMID:16855396 20100428 RGD 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:630 genetic disease ISO RGD:1319844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:9005952 HENGEL-MAROOFIAN-SCHOLS SYNDROME ISO RGD:1319844 D RGD:7240710 20220209 OMIM 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:9005952 HENGEL-MAROOFIAN-SCHOLS SYNDROME ISO RGD:1319844 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome PMID:25741868|PMID:34022130 1560788 Bcas3 BCAS3, microtubule associated cell migration factor gene DOID:9008086 Developmental Disabilities ISO RGD:1319844 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:34022130 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:25741868 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:34113008 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1826 epilepsy ISO RGD:1348298 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34113008 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:2234 focal epilepsy ISO RGD:1348298 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34113008 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:34113008 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1348298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:7240710 20221207 OMIM 1560793 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures PMID:25741868|PMID:34113008 1560796 Zfp280d zinc finger protein 280D gene DOID:2717 Bloom syndrome ISO RGD:1323434 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1560796 Zfp280d zinc finger protein 280D gene DOID:630 genetic disease ISO RGD:1323434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560796 Zfp280d zinc finger protein 280D gene DOID:9256 colorectal cancer ISO RGD:1323434 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1560798 Pof1b POF1B, actin binding protein gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351618 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 1560798 Pof1b POF1B, actin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351618 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560798 Pof1b POF1B, actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:7240710 20130425 OMIM 1560798 Pof1b POF1B, actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 1560798 Pof1b POF1B, actin binding protein gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1351618 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 1560798 Pof1b POF1B, actin binding protein gene DOID:12849 autistic disorder ISO RGD:1351618 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560798 Pof1b POF1B, actin binding protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1351618 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 1560798 Pof1b POF1B, actin binding protein gene DOID:630 genetic disease ISO RGD:1351618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0080600 COVID-19 ISO RGD:1354073 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1354073 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:7240710 20190710 OMIM 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:17576681|PMID:19666484|PMID:21041452|PMID:25741868|PMID:28492532|PMID:9536098 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:12177 common variable immunodeficiency ISO RGD:1354073 D RGD:11554173 20190716 CTD CTD Direct Evidence: marker/mechanism 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:12177 common variable immunodeficiency ISO RGD:1354073 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive PMID:28492532 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354073 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:630 genetic disease ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560810 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:9000998 Brain Injuries ISO RGD:1354073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1560812 Ccdc71l coiled-coil domain containing 71-like gene DOID:3007 breast ductal carcinoma ISO RGD:1602288 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1560812 Ccdc71l coiled-coil domain containing 71-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602288 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560812 Ccdc71l coiled-coil domain containing 71-like gene DOID:630 genetic disease ISO RGD:1602288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560814 Tssk4 testis-specific serine kinase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1560814 Tssk4 testis-specific serine kinase 4 gene DOID:630 genetic disease ISO RGD:1345321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560814 Tssk4 testis-specific serine kinase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345321 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1560814 Tssk4 testis-specific serine kinase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1560817 Rps6ka6 ribosomal protein S6 kinase A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350176 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560817 Rps6ka6 ribosomal protein S6 kinase A6 gene DOID:12849 autistic disorder ISO RGD:1350176 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560817 Rps6ka6 ribosomal protein S6 kinase A6 gene DOID:630 genetic disease ISO RGD:1350176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560819 Chsy3 chondroitin sulfate synthase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560819 Chsy3 chondroitin sulfate synthase 3 gene DOID:630 genetic disease ISO RGD:1603860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560819 Chsy3 chondroitin sulfate synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603860 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560819 Chsy3 chondroitin sulfate synthase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0050144 Kartagener syndrome ISO RGD:1348406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:11788826|PMID:16627867|PMID:19357118|PMID:19630565|PMID:23477994|PMID:25741868|PMID:28492532|PMID:30067075 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0050144 Kartagener syndrome ISS RGD:1558622 D RGD:13592920 20180518 MouseDO 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348406 D RGD:1601080|PMID:11788826 20070405 RGD DNA:mutations 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1348406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0050545 visceral heterotaxy ISS RGD:1558622 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1348406 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:7240710 20130221 OMIM 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:20301301|PMID:2127064|PMID:21270641|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27637300|PMID:27779714|PMID:28492532|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33589394|PMID:33635012|PMID:9536098 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:10754 otitis media ISS RGD:1558622 D RGD:13592920 20180518 MouseDO OMIM:166760 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:12336 male infertility ISO RGD:1348406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11788826|PMID:16627867|PMID:19357118|PMID:25741868|PMID:28492532|PMID:33574797 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:2841 asthma ISO RGD:1348406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:5223 infertility ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:11788826|PMID:16627867|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30293990|PMID:31589614|PMID:31879361 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:630 genetic disease ISO RGD:1348406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11788826|PMID:16199547|PMID:16627867|PMID:17576681|PMID:2127064|PMID:21270641|PMID:23261302|PMID:2389146|PMID:23891469|PMID:24033266|PMID:25741868|PMID:26373788|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:6419 tetralogy of Fallot ISS RGD:1558622 D RGD:13592920 20180518 MouseDO OMIM:187500 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:758 situs inversus ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:9007073 Cough ISO RGD:1348406 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:9536098 1560828 Dnah5 dynein, axonemal, heavy chain 5 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1558622 D RGD:13592920 20180518 MouseDO 1560833 Mrtfb myocardin related transcription factor B gene DOID:0060040 pervasive developmental disorder ISO RGD:1345947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20442744 1560833 Mrtfb myocardin related transcription factor B gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1345947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 1560833 Mrtfb myocardin related transcription factor B gene DOID:630 genetic disease ISO RGD:1345947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560834 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1603485 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 1560834 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:1540 parathyroid carcinoma ISO RGD:1603485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560834 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:630 genetic disease ISO RGD:1603485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560834 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603485 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560838 Pax9 paired box 9 gene DOID:0050591 tooth agenesis ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:25741868|PMID:29969831 1560838 Pax9 paired box 9 gene DOID:0050591 tooth agenesis ISS RGD:1557350 D RGD:13592920 20180518 MouseDO OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926 1560838 Pax9 paired box 9 gene DOID:12859 choreatic disease ISO RGD:1352334 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 1560838 Pax9 paired box 9 gene DOID:13714 anodontia ISO RGD:1352334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:16236760|PMID:16479262|PMID:19429910|PMID:22581971|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28910570 1560838 Pax9 paired box 9 gene DOID:630 genetic disease ISO RGD:1352334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 1560838 Pax9 paired box 9 gene DOID:674 cleft palate ISO RGD:1557350 D RGD:12801424|PMID:17097601 20170329 RGD 1560838 Pax9 paired box 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1560838 Pax9 paired box 9 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352334 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1560838 Pax9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:7240710 20130221 OMIM 1560838 Pax9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 3 PMID:10615120|PMID:11781684|PMID:11827258|PMID:11941488|PMID:12605438|PMID:12786960|PMID:14571272|PMID:14607846|PMID:14689302|PMID:15615874|PMID:16191360|PMID:16479262|PMID:17910065|PMID:18414213|PMID:19429910|PMID:25741868|PMID:28492532|PMID:29023497 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602419 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602419 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1602419 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:630 genetic disease ISO RGD:1602419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602419 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602419 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1560839 Ttll10 tubulin tyrosine ligase like 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1560840 Spata2L spermatogenesis associated 2-like gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1560840 Spata2L spermatogenesis associated 2-like gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1605588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1560840 Spata2L spermatogenesis associated 2-like gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605588 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 1560840 Spata2L spermatogenesis associated 2-like gene DOID:13636 Fanconi anemia ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1560840 Spata2L spermatogenesis associated 2-like gene DOID:14780 KBG syndrome ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1560840 Spata2L spermatogenesis associated 2-like gene DOID:630 genetic disease ISO RGD:1605588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560846 Tex26 testis expressed 26 gene DOID:630 genetic disease ISO RGD:1603922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560849 Themis thymocyte selection associated gene DOID:0050589 inflammatory bowel disease IAGP D RGD:38599149|PMID:22275874 20200914 RGD DNA:frameshift mutation: 1560849 Themis thymocyte selection associated gene DOID:10608 celiac disease ISO RGD:1603481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 1560849 Themis thymocyte selection associated gene DOID:630 genetic disease ISO RGD:1603481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560849 Themis thymocyte selection associated gene DOID:9008671 T-Lymphocytopenia IAGP D RGD:38599149|PMID:22275874 20200914 RGD DNA:frameshift mutation: 1560850 Pik3r6 phosphoinositide-3-kinase, regulatory subunit 6 gene DOID:630 genetic disease ISO RGD:1353016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606518 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606518 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:0111621 Temtamy syndrome ISO RGD:1606518 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:630 genetic disease ISO RGD:1606518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560851 Rimklb ribosomal modification protein rimK-like family member B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606518 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1560852 Thumpd3 THUMP domain containing 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1348857 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 1560852 Thumpd3 THUMP domain containing 3 gene DOID:2843 long QT syndrome ISO RGD:1348857 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1560852 Thumpd3 THUMP domain containing 3 gene DOID:630 genetic disease ISO RGD:1348857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560852 Thumpd3 THUMP domain containing 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1560854 Actmap actin maturation protease gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1560854 Actmap actin maturation protease gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1560854 Actmap actin maturation protease gene DOID:2340 craniosynostosis ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1560854 Actmap actin maturation protease gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1560854 Actmap actin maturation protease gene DOID:9269 maple syrup urine disease ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1560855 Otud6a OTU deubiquitinase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605871 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560855 Otud6a OTU deubiquitinase 6A gene DOID:12849 autistic disorder ISO RGD:1605871 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560855 Otud6a OTU deubiquitinase 6A gene DOID:630 genetic disease ISO RGD:1605871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560856 Ehd2 EH-domain containing 2 gene DOID:630 genetic disease ISO RGD:1348695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560859 Asprv1 aspartic peptidase, retroviral-like 1 gene DOID:10283 prostate cancer ISO RGD:1604987 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560859 Asprv1 aspartic peptidase, retroviral-like 1 gene DOID:1697 ichthyosis ISO RGD:12276125 D RGD:9068941 20211203 OMIA Ichthyosis, ASPRV1-related PMID:28249031|PMID:34796560 1560859 Asprv1 aspartic peptidase, retroviral-like 1 gene DOID:630 genetic disease ISO RGD:1604987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560859 Asprv1 aspartic peptidase, retroviral-like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:7240710 20200902 OMIM 1560859 Asprv1 aspartic peptidase, retroviral-like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis PMID:32516568|PMID:6499258 1560863 Cdca5 cell division cycle associated 5 gene DOID:0080600 COVID-19 ISO RGD:1350338 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1560863 Cdca5 cell division cycle associated 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1560863 Cdca5 cell division cycle associated 5 gene DOID:1059 intellectual disability ISO RGD:1350338 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560863 Cdca5 cell division cycle associated 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1560863 Cdca5 cell division cycle associated 5 gene DOID:2746 glycogen storage disease V ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1560863 Cdca5 cell division cycle associated 5 gene DOID:3070 high grade glioma ISO RGD:1350338 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1560863 Cdca5 cell division cycle associated 5 gene DOID:630 genetic disease ISO RGD:1350338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560863 Cdca5 cell division cycle associated 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1350338 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1560871 Plxna1 plexin A1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1560871 Plxna1 plexin A1 gene DOID:1826 epilepsy ISO RGD:1342576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1560871 Plxna1 plexin A1 gene DOID:630 genetic disease ISO RGD:1342576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560871 Plxna1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:7240710 20221207 OMIM 1560871 Plxna1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dworschak-Punetha neurodevelopmental syndrome | ClinVar Annotator: match by term: PLXNA1-related neurodevelopmental disorder PMID:25741868|PMID:34054129 1560871 Plxna1 plexin A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342576 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34054129 1560871 Plxna1 plexin A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1560871 Plxna1 plexin A1 gene DOID:9270 alkaptonuria ISO RGD:1342576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1560873 Ccdc66 coiled-coil domain containing 66 gene DOID:10584 retinitis pigmentosa ISS RGD:1620471 D RGD:13592920 20180518 MouseDO OMIM:268000 1560873 Ccdc66 coiled-coil domain containing 66 gene DOID:630 genetic disease ISO RGD:1605241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560873 Ccdc66 coiled-coil domain containing 66 gene DOID:8466 retinal degeneration ISO RGD:12351932 D RGD:9068941 20210604 OMIA Progressive retinal atrophy, CCDC66 related PMID:17327822|PMID:19777273|PMID:22065099|PMID:33273526 1560875 Bag4 BAG cochaperone 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1560875 Bag4 BAG cochaperone 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1560875 Bag4 BAG cochaperone 4 gene DOID:1793 pancreatic cancer ISO RGD:1350570 D RGD:2325852|PMID:10799310 20100611 RGD mRNA:increased expression:pancreas 1560875 Bag4 BAG cochaperone 4 gene DOID:607 paraplegia ISO RGD:1350570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1560875 Bag4 BAG cochaperone 4 gene DOID:630 genetic disease ISO RGD:1350570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560876 C1qtnf9 C1q and TNF related 9 gene DOID:1826 epilepsy ISO RGD:1605504 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1560876 C1qtnf9 C1q and TNF related 9 gene DOID:5419 schizophrenia ISO RGD:1605504 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1560876 C1qtnf9 C1q and TNF related 9 gene DOID:630 genetic disease ISO RGD:1605504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560880 Cysrt1 cysteine rich tail 1 gene DOID:0050777 Joubert syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1560880 Cysrt1 cysteine rich tail 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1560880 Cysrt1 cysteine rich tail 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1560880 Cysrt1 cysteine rich tail 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1560880 Cysrt1 cysteine rich tail 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1560880 Cysrt1 cysteine rich tail 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1560880 Cysrt1 cysteine rich tail 1 gene DOID:1826 epilepsy ISO RGD:1603334 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1560880 Cysrt1 cysteine rich tail 1 gene DOID:630 genetic disease ISO RGD:1603334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560880 Cysrt1 cysteine rich tail 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1604483 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:630 genetic disease ISO RGD:1604483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:9003071 Postaxial Polydactyly ISO RGD:1604483 D RGD:8554872 20201124 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly PMID:30982135 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604483 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:30982135 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:7240710 20190731 OMIM 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 PMID:25741868|PMID:30982135|PMID:32147526 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604483 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560883 RGD1560883 similar to KIAA0825 protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1560884 Ccdc171 coiled-coil domain containing 171 gene DOID:10283 prostate cancer ISO RGD:1348779 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560884 Ccdc171 coiled-coil domain containing 171 gene DOID:630 genetic disease ISO RGD:1348779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560887 Atg9b autophagy related 9B gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1560887 Atg9b autophagy related 9B gene DOID:2843 long QT syndrome ISO RGD:1352218 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1560887 Atg9b autophagy related 9B gene DOID:5426 primary ovarian insufficiency ISO RGD:1352218 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1560887 Atg9b autophagy related 9B gene DOID:630 genetic disease ISO RGD:1352218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560888 Cdk8 cyclin-dependent kinase 8 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1348539 D RGD:155260314|PMID:34815954 20220929 RGD DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) 1560888 Cdk8 cyclin-dependent kinase 8 gene DOID:14289 Ebstein anomaly ISO RGD:1348539 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:25741868 1560888 Cdk8 cyclin-dependent kinase 8 gene DOID:630 genetic disease ISO RGD:1348539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560888 Cdk8 cyclin-dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:7240710 20200226 OMIM 1560888 Cdk8 cyclin-dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities PMID:25741868|PMID:30905399 1560889 Ces2h carboxylesterase 2H gene DOID:0060041 autism spectrum disorder ISO RGD:736535 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1560889 Ces2h carboxylesterase 2H gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1560889 Ces2h carboxylesterase 2H gene DOID:0110255 cataract 5 multiple types ISO RGD:736535 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1560889 Ces2h carboxylesterase 2H gene DOID:630 genetic disease ISO RGD:736535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560889 Ces2h carboxylesterase 2H gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 1560889 Ces2h carboxylesterase 2H gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736535 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19710369 1560889 Ces2h carboxylesterase 2H gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 1560891 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601698 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560891 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1601698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome 1560891 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1601698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 1560891 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:12849 autistic disorder ISO RGD:1601698 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560891 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:630 genetic disease ISO RGD:1601698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1560891 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1601698 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:25741868 1560894 Ccdc175 coiled-coil domain containing 175 gene DOID:630 genetic disease ISO RGD:1347710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560896 Slc25a6 solute carrier family 25 member 6 gene DOID:12849 autistic disorder ISO RGD:1349745 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560898 Spin2a spindlin family member 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348781 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560898 Spin2a spindlin family member 2A gene DOID:12849 autistic disorder ISO RGD:1348781 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560898 Spin2a spindlin family member 2A gene DOID:630 genetic disease ISO RGD:1348781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560898 Spin2a spindlin family member 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348781 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 1560898 Spin2a spindlin family member 2A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348781 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 1560904 Mageb2 MAGE family member B2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350701 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560904 Mageb2 MAGE family member B2 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 1560904 Mageb2 MAGE family member B2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 1560904 Mageb2 MAGE family member B2 gene DOID:12849 autistic disorder ISO RGD:1350701 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560904 Mageb2 MAGE family member B2 gene DOID:630 genetic disease ISO RGD:1350701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560904 Mageb2 MAGE family member B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350701 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1560906 Gli4 GLI family zinc finger 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1560906 Gli4 GLI family zinc finger 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1560906 Gli4 GLI family zinc finger 4 gene DOID:4621 holoprosencephaly ISO RGD:1354466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1560906 Gli4 GLI family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1354466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560908 Eif4enif1 eukaryotic translation initiation factor 4E nuclear import factor 1 gene DOID:630 genetic disease ISO RGD:1320332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560909 Cnot11 CCR4-NOT transcription complex, subunit 11 gene DOID:630 genetic disease ISO RGD:1348103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1352329 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:19377476|PMID:21826058|PMID:24916641|PMID:31971710 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:7240710 20151209 OMIM 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:19377476|PMID:21826058|PMID:23563313|PMID:24916641|PMID:25644381|PMID:25741868|PMID:28492532|PMID:31971710 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352329 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352329 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:19471859|PMID:28492532|PMID:30443250 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352329 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:1059 intellectual disability ISO RGD:1352329 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:12849 autistic disorder ISO RGD:1352329 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560910 Ccdc22 coiled-coil domain containing 22 gene DOID:630 genetic disease ISO RGD:1352329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21826058|PMID:23563313|PMID:24916641|PMID:25741868|PMID:28492532 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:0080773 delta beta-thalassemia ISO RGD:1603869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:0111969 immunodeficiency 39 ISO RGD:1603869 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603869 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:630 genetic disease ISO RGD:1603869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560911 Cracr2b calcium release activated channel regulator 2B gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603869 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:7240710 20141015 OMIM 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2 PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:1059 intellectual disability ISO RGD:1606517 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:10907 microcephaly ISO RGD:1606517 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:630 genetic disease ISO RGD:1606517 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:9007661 Dwarfism ISO RGD:1606517 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:7240710 20141015 OMIM 1560913 Fam111a FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteocraniostenosis PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 1560914 Dgke diacylglycerol kinase epsilon gene DOID:0050777 Joubert syndrome ISO RGD:1347499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1560914 Dgke diacylglycerol kinase epsilon gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542698 1560914 Dgke diacylglycerol kinase epsilon gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 PMID:23274426|PMID:23542698|PMID:24511134|PMID:24747643|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28492532|PMID:28496993|PMID:29590070 1560914 Dgke diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 PMID:23274426|PMID:23542698|PMID:24747643|PMID:25135762|PMID:25349199|PMID:25741868|PMID:25854283|PMID:28056875|PMID:28492532|PMID:28496993|PMID:29127259|PMID:29590070 1560914 Dgke diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 susceptibility ISO RGD:1347499 D RGD:7240710 20230517 OMIM 1560914 Dgke diacylglycerol kinase epsilon gene DOID:1184 nephrotic syndrome ISO RGD:1347499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23274426|PMID:25349199|PMID:25741868|PMID:29127259 1560914 Dgke diacylglycerol kinase epsilon gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Hemolytic-uremic syndrome PMID:25854283 1560914 Dgke diacylglycerol kinase epsilon gene DOID:557 kidney disease ISO RGD:1347499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1560914 Dgke diacylglycerol kinase epsilon gene DOID:630 genetic disease ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560915 Tspan33 tetraspanin 33 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604171 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560915 Tspan33 tetraspanin 33 gene DOID:630 genetic disease ISO RGD:1604171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560916 Fundc2 FUN14 domain containing 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560916 Fundc2 FUN14 domain containing 2 gene DOID:0050476 Barth syndrome ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560916 Fundc2 FUN14 domain containing 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560916 Fundc2 FUN14 domain containing 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351400 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1560916 Fundc2 FUN14 domain containing 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560916 Fundc2 FUN14 domain containing 2 gene DOID:11372 megacolon ISO RGD:1351400 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1560916 Fundc2 FUN14 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560916 Fundc2 FUN14 domain containing 2 gene DOID:12134 factor VIII deficiency ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A PMID:2105106|PMID:2563431 1560916 Fundc2 FUN14 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1351400 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560916 Fundc2 FUN14 domain containing 2 gene DOID:13628 favism ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1560916 Fundc2 FUN14 domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1560916 Fundc2 FUN14 domain containing 2 gene DOID:607 paraplegia ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560916 Fundc2 FUN14 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560916 Fundc2 FUN14 domain containing 2 gene DOID:9002720 Splenomegaly ISO RGD:1351400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1560921 Dmrtb1 DMRT-like family B with proline-rich C-terminal, 1 gene DOID:630 genetic disease ISO RGD:1349847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560924 Klhl42 kelch-like family, member 42 gene DOID:630 genetic disease ISO RGD:1348247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560932 Ppp4r4 protein phosphatase 4, regulatory subunit 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1560932 Ppp4r4 protein phosphatase 4, regulatory subunit 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1560932 Ppp4r4 protein phosphatase 4, regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1344077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560934 Nup42 nucleoporin 42 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344412 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560934 Nup42 nucleoporin 42 gene DOID:630 genetic disease ISO RGD:1344412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560935 Plcxd1 phosphatidylinositol-specific phospholipase C, X domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1349595 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560938 Selenoi selenoprotein I gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1604559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1560938 Selenoi selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:7240710 20200226 OMIM 1560938 Selenoi selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive PMID:25741868|PMID:28052917|PMID:29500230 1560938 Selenoi selenoprotein I gene DOID:630 genetic disease ISO RGD:1604559 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560943 Arid3c AT-rich interaction domain 3C gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342507 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:0080942 anauxetic dysplasia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1342507 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:630 genetic disease ISO RGD:1342507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560943 Arid3c AT-rich interaction domain 3C gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1342507 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1560943 Arid3c AT-rich interaction domain 3C gene DOID:9870 galactosemia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1560948 Fam24a family with sequence similarity 24, member A gene DOID:2340 craniosynostosis ISO RGD:1342610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1560948 Fam24a family with sequence similarity 24, member A gene DOID:630 genetic disease ISO RGD:1342610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560953 Tmem208 transmembrane protein 208 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1560953 Tmem208 transmembrane protein 208 gene DOID:630 genetic disease ISO RGD:1605689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0050437 Danon disease ISO RGD:1350497 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350497 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060536 mitochondrial complex I deficiency ISS RGD:1615142 D RGD:13592920 20190214 MouseDO OMIM:252010 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350497 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1350497 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25741868 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:7240710 20190315 OMIM 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 PMID:17262856|PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:12849 autistic disorder ISO RGD:1350497 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560955 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:630 genetic disease ISO RGD:1350497 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 1560956 Anxa10 annexin A10 gene DOID:1793 pancreatic cancer ISO RGD:1318989 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 1560956 Anxa10 annexin A10 gene DOID:630 genetic disease ISO RGD:1318989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560956 Anxa10 annexin A10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318989 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:decreased expression:liver (human) 1560958 Fam24b family with sequence similarity 24 member B gene DOID:2340 craniosynostosis ISO RGD:1352359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1560958 Fam24b family with sequence similarity 24 member B gene DOID:630 genetic disease ISO RGD:1352359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560959 Fam43b family with sequence similarity 43, member B gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1560959 Fam43b family with sequence similarity 43, member B gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1560959 Fam43b family with sequence similarity 43, member B gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1560959 Fam43b family with sequence similarity 43, member B gene DOID:630 genetic disease ISO RGD:1346194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560959 Fam43b family with sequence similarity 43, member B gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:1346925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1346925 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:1346925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:630 genetic disease ISO RGD:1346925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1346925 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:9007661 Dwarfism ISO RGD:1346925 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1560960 Hook3 hook microtubule-tethering protein 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1346925 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0050476 Barth syndrome ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:7240710 20200902 OMIM 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Armfield syndrome PMID:10398235|PMID:25741868|PMID:32703943 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0050800 creatine transporter deficiency ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344714 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1344714 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 1560964 Fam50a family with sequence similarity 50, member A gene DOID:0112003 immunodeficiency 33 ISO RGD:1344714 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1560964 Fam50a family with sequence similarity 50, member A gene DOID:10588 adrenoleukodystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560964 Fam50a family with sequence similarity 50, member A gene DOID:1059 intellectual disability ISO RGD:1344714 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10398235|PMID:25741868|PMID:32703943 1560964 Fam50a family with sequence similarity 50, member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560964 Fam50a family with sequence similarity 50, member A gene DOID:12849 autistic disorder ISO RGD:1344714 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560964 Fam50a family with sequence similarity 50, member A gene DOID:13628 favism ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1560964 Fam50a family with sequence similarity 50, member A gene DOID:2729 dyskeratosis congenita ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1560964 Fam50a family with sequence similarity 50, member A gene DOID:607 paraplegia ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1560964 Fam50a family with sequence similarity 50, member A gene DOID:630 genetic disease ISO RGD:1344714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560964 Fam50a family with sequence similarity 50, member A gene DOID:9002720 Splenomegaly ISO RGD:1344714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1560965 H2ac20 H2A clustered histone 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1353344 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1560965 H2ac20 H2A clustered histone 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353344 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20602914|PMID:22578326|PMID:30303587|PMID:32747562 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1351498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:11552574|PMID:21348867 20161011 RGD DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human) 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:11552577|PMID:20602914 20161011 RGD DNA:nonsense mutation:cds:p.R127X(human) 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:12849 autistic disorder ISO RGD:1351498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1351498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:11062393|PMID:22578326 20161011 RGD DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22578326 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:7240710 20130221 OMIM 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction PMID:10449658|PMID:20602914|PMID:21348867|PMID:22578326|PMID:22987632|PMID:23208854|PMID:23494849|PMID:24033266|PMID:25741868|PMID:26445815|PMID:26467025|PMID:28492532|PMID:32747562 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:9004538 Hearing Loss ISO RGD:1351498 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 1560967 Gpsm2 G-protein signaling modulator 2 gene DOID:9008681 Deafness ISO RGD:1351498 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1560978 Bbof1 basal body orientation factor 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1346239 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 1560978 Bbof1 basal body orientation factor 1 gene DOID:1059 intellectual disability ISO RGD:1346239 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1560978 Bbof1 basal body orientation factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1560978 Bbof1 basal body orientation factor 1 gene DOID:630 genetic disease ISO RGD:1346239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560978 Bbof1 basal body orientation factor 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 1560978 Bbof1 basal body orientation factor 1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 1560980 Rtp1 receptor (chemosensory) transporter protein 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1604751 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1560980 Rtp1 receptor (chemosensory) transporter protein 1 gene DOID:630 genetic disease ISO RGD:1604751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560982 Wdr13 WD repeat domain 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347566 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1560982 Wdr13 WD repeat domain 13 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347566 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1560982 Wdr13 WD repeat domain 13 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1560982 Wdr13 WD repeat domain 13 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347566 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1560982 Wdr13 WD repeat domain 13 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1560982 Wdr13 WD repeat domain 13 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1560982 Wdr13 WD repeat domain 13 gene DOID:10485 esophageal atresia ISO RGD:1347566 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1560982 Wdr13 WD repeat domain 13 gene DOID:12849 autistic disorder ISO RGD:1347566 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1560982 Wdr13 WD repeat domain 13 gene DOID:630 genetic disease ISO RGD:1347566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560989 Spocd1 SPOC domain containing 1 gene DOID:630 genetic disease ISO RGD:1345460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560991 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1345695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1560991 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1560991 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:7240710 20171011 OMIM 1560991 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive PMID:15220921|PMID:24986372|PMID:25620205|PMID:25741868|PMID:28492532|PMID:30359777 1560991 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1345695 D RGD:7246919|PMID:22824526 20130626 RGD 1560991 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:630 genetic disease ISO RGD:1345695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1560999 Scrn1 secernin 1 gene DOID:10283 prostate cancer ISO RGD:1348666 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1560999 Scrn1 secernin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348666 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1560999 Scrn1 secernin 1 gene DOID:630 genetic disease ISO RGD:1348666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1560999 Scrn1 secernin 1 gene DOID:8398 osteoarthritis ISO RGD:1348666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1560999 Scrn1 secernin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347096 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:7240710 20190315 OMIM 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:25741868|PMID:27811305|PMID:28089922|PMID:28492532|PMID:29174631|PMID:29193635 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:12849 autistic disorder ISO RGD:1347096 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1347096 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1347096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561004 Ammecr1 AMMECR nuclear protein 1 gene DOID:9007661 Dwarfism ISO RGD:1347096 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1561009 Exd1 exonuclease 3'-5' domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605271 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561009 Exd1 exonuclease 3'-5' domain containing 1 gene DOID:630 genetic disease ISO RGD:1605271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561009 Exd1 exonuclease 3'-5' domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1605271 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0111148 isolated ectopia lentis ISO RGD:1351069 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Isolated ectopia lentis PMID:19200529|PMID:22736615|PMID:24033266 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:7240710 20130425 OMIM 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive PMID:17576681|PMID:19200529|PMID:20141359|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:2377351|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28394649|PMID:28492532|PMID:28642162|PMID:31837199|PMID:9536098 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:7240710 20141015 OMIM 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis et pupillae PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:24033266|PMID:24802351|PMID:25741868|PMID:25741879|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:110 lens disease ISS RGD:1557679 D RGD:13592920 20180518 MouseDO 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351069 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:630 genetic disease ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:9000218 Craniosynostosis with Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis PMID:17576681|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162|PMID:9536098 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:9004201 Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1351069 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 1561012 Adamtsl4 ADAMTS-like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351069 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561016 Themis2 thymocyte selection associated family member 2 gene DOID:630 genetic disease ISO RGD:1353481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561016 Themis2 thymocyte selection associated family member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353481 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19942713 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1614131 D RGD:13592920 20190502 MouseDO 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346303 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:7240710 20200325 OMIM 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome PMID:25741868 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:1059 intellectual disability ISS RGD:1614131 D RGD:13592920 20190502 MouseDO 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1346303 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561019 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:630 genetic disease ISO RGD:1346303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1346388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:12849 autistic disorder ISO RGD:1346388 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346388 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346388 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:9263 homocystinuria ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1561022 Sumo3 small ubiquitin-like modifier 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1561025 Klhdc9 kelch domain containing 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1561025 Klhdc9 kelch domain containing 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1605002 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561025 Klhdc9 kelch domain containing 9 gene DOID:630 genetic disease ISO RGD:1605002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561025 Klhdc9 kelch domain containing 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605002 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561027 Pacrg parkin coregulated gene DOID:0060368 Parkinson's disease 2 ISO RGD:1352616 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:12116199|PMID:16328510|PMID:19162522|PMID:20399249|PMID:21993715|PMID:25741868|PMID:25833766|PMID:26467025|PMID:26683220|PMID:28492532|PMID:33045815|PMID:33150996|PMID:33166806 1561027 Pacrg parkin coregulated gene DOID:0080855 Parkinsonism ISO RGD:1352616 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 1561027 Pacrg parkin coregulated gene DOID:3910 lung adenocarcinoma ISO RGD:1352616 D RGD:8554872 20150630 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 1561027 Pacrg parkin coregulated gene DOID:5419 schizophrenia ISO RGD:1352616 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561027 Pacrg parkin coregulated gene DOID:630 genetic disease ISO RGD:1352616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561027 Pacrg parkin coregulated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352616 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868 1561028 Pced1b PC-esterase domain containing 1B gene DOID:630 genetic disease ISO RGD:1602665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561030 Deptor DEP domain containing MTOR-interacting protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344261 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1561030 Deptor DEP domain containing MTOR-interacting protein gene DOID:630 genetic disease ISO RGD:1344261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561034 C1h11orf42 similar to human chromosome 11 open reading frame 42 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602976 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1561034 C1h11orf42 similar to human chromosome 11 open reading frame 42 gene DOID:630 genetic disease ISO RGD:1602976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561038 Hecw1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352203 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561038 Hecw1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1352203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561039 Spmip10 sperm associated microtubule inner protein 10 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1605198 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 1561039 Spmip10 sperm associated microtubule inner protein 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561039 Spmip10 sperm associated microtubule inner protein 10 gene DOID:630 genetic disease ISO RGD:1605198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561039 Spmip10 sperm associated microtubule inner protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605198 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561039 Spmip10 sperm associated microtubule inner protein 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561041 C1qtnf2 C1q and TNF related 2 gene DOID:630 genetic disease ISO RGD:1348725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050545 visceral heterotaxy ISS RGD:1331854 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27854218|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29165578|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34906502|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34194672|PMID:34906502|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050778 Meckel syndrome ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050778 Meckel syndrome ISS RGD:1331854 D RGD:13592920 20180518 MouseDO 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0060668 anencephaly ISO RGD:2289739 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070115 Meckel syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:7240710 20130731 OMIM 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22995991|PMID:23351400|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29039169|PMID:32165824|PMID:32488064|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29165578 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:11062645|PMID:22241855 20160926 RGD DNA:mutations: :multiple 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:11535976|PMID:19068953 20160927 RGD DNA:splice-site mutation:intron:IVS19+1G>C (human) 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:7240710 20130731 OMIM 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23692786|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:29620724|PMID:30091983|PMID:31618753|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 no_association ISO RGD:2289739 D RGD:11062645|PMID:22241855 20160926 RGD DNA:mutations: :multiple 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability ISO RGD:2289739 D RGD:11535973|PMID:22023432 20160926 RGD DNA:SNPs, haplotype: :rs7661102, rs10025837, rs13116304 (human) 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability no_association ISO RGD:2289739 D RGD:11535973|PMID:22023432 20160926 RGD DNA:SNPs, haplotype: :rs7664843, rs1861044 (human) 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:10907 microcephaly ISO RGD:2289739 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1148 polydactyly ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:11836 clubfoot ISO RGD:2289739 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:12712 nephronophthisis ISO RGD:2289739 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:630 genetic disease ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26729329|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:31618753|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:8253763|PMID:9536098 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:8501 fundus dystrophy ISO RGD:2289739 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19777577|PMID:25741868|PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9000639 COACH Syndrome 1 ISO RGD:2289739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:18414213|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26729329|PMID:27081510|PMID:27082236|PMID:28492532|PMID:28518168|PMID:29620724|PMID:32461654 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9000983 Encephalocele ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:19777577|PMID:25741868|PMID:26862157|PMID:28492532|PMID:31680349 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:7240710 20220427 OMIM 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 93 PMID:28492532|PMID:30267408 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:2289739 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:28492532 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:7240710 20201223 OMIM 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: COACH syndrome 2 PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22246503|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2289739 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1561042 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:936 brain disease ISO RGD:2289739 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1561043 Tut1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1561043 Tut1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:1059 intellectual disability ISO RGD:1345565 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561043 Tut1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:630 genetic disease ISO RGD:1345565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561044 Cby2 chibby family member 2 gene DOID:630 genetic disease ISO RGD:1606126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561045 Fance FA complementation group E gene DOID:0050553 JMP syndrome ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1561045 Fance FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:7240710 20130425 OMIM 1561045 Fance FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group E PMID:10205272|PMID:11001585|PMID:14695169|PMID:15609317|PMID:16199547|PMID:16774934|PMID:17308347|PMID:17576681|PMID:17924555|PMID:18271933|PMID:21279724|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26822949|PMID:27165003|PMID:27913932|PMID:28492532|PMID:30609409|PMID:31102422|PMID:32487094|PMID:32546565|PMID:32947577|PMID:33084842|PMID:33326660|PMID:7662964|PMID:9382107|PMID:9536098 1561045 Fance FA complementation group E gene DOID:10907 microcephaly ISO RGD:1354425 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1561045 Fance FA complementation group E gene DOID:13636 Fanconi anemia ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:24728327|PMID:25741868|PMID:28492532|PMID:32546565|PMID:33084842|PMID:33326660 1561045 Fance FA complementation group E gene DOID:1520 colon carcinoma ISO RGD:1354425 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003|PMID:28492532 1561045 Fance FA complementation group E gene DOID:1612 breast cancer ISO RGD:1354425 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 1561045 Fance FA complementation group E gene DOID:2394 ovarian cancer ISO RGD:1354425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 1561045 Fance FA complementation group E gene DOID:4905 pancreatic carcinoma ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532 1561045 Fance FA complementation group E gene DOID:5426 primary ovarian insufficiency ISO RGD:1614308 D RGD:11344915|PMID:26939056 20160708 RGD 1561045 Fance FA complementation group E gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354425 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:33326660 1561045 Fance FA complementation group E gene DOID:630 genetic disease ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561046 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350342 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561046 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350342 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 1561046 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:12849 autistic disorder ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:25741868|PMID:30208311 1561046 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:630 genetic disease ISO RGD:1350342 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14536084 1561046 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350342 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1561046 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED PMID:25741868 1561048 Itln1 intelectin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1561048 Itln1 intelectin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346201 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561048 Itln1 intelectin 1 gene DOID:630 genetic disease ISO RGD:1346201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561048 Itln1 intelectin 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346201 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23555749 1561048 Itln1 intelectin 1 gene DOID:9003566 Mesothelioma ISO RGD:1346201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15777968 1561048 Itln1 intelectin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346201 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561048 Itln1 intelectin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23555749 1561053 Cldn12 claudin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314174 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561053 Cldn12 claudin 12 gene DOID:630 genetic disease ISO RGD:1314174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561056 B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 gene DOID:0080600 COVID-19 ISO RGD:1603523 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561056 B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 gene DOID:630 genetic disease ISO RGD:1603523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561056 B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603523 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1561057 Cerkl ceramide kinase-like gene DOID:0050572 cone-rod dystrophy ISO RGD:1346381 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:14681825|PMID:15708351|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:30718709 1561057 Cerkl ceramide kinase-like gene DOID:0050795 cone dystrophy ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30718709 1561057 Cerkl ceramide kinase-like gene DOID:0050817 Stargardt disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:14681825|PMID:16199547|PMID:23591405|PMID:24043777|PMID:27813578|PMID:28492532 1561057 Cerkl ceramide kinase-like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:7240710 20130425 OMIM 1561057 Cerkl ceramide kinase-like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:19667359|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30029497|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31106028|PMID:31456290|PMID:31816670|PMID:33090715|PMID:33322828|PMID:33749171|PMID:34315337|PMID:9536098 1561057 Cerkl ceramide kinase-like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:1600829|PMID:14681825 20070328 RGD DNA:mutation:exon 1561057 Cerkl ceramide kinase-like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14681825|PMID:15708351|PMID:17576681|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:32531858|PMID:9536098 1561057 Cerkl ceramide kinase-like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31816670|PMID:32531858|PMID:33322828|PMID:33749171|PMID:9536098 1561057 Cerkl ceramide kinase-like gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1346381 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:14681825|REF_RGD_ID:1600829 1561057 Cerkl ceramide kinase-like gene DOID:4448 macular degeneration ISO RGD:1346381 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 1561057 Cerkl ceramide kinase-like gene DOID:630 genetic disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561057 Cerkl ceramide kinase-like gene DOID:8501 fundus dystrophy ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14681825|PMID:15708351|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:27208204|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30718709|PMID:33322828|PMID:34315337 1561058 Ier5l immediate early response 5-like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1561058 Ier5l immediate early response 5-like gene DOID:630 genetic disease ISO RGD:1349464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561059 Mettl8 methyltransferase 8, methylcytidine gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605633 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1561059 Mettl8 methyltransferase 8, methylcytidine gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:17576681|PMID:17710875|PMID:19026396|PMID:20507343|PMID:25741868|PMID:26612766|PMID:28492532|PMID:9536098 1561059 Mettl8 methyltransferase 8, methylcytidine gene DOID:630 genetic disease ISO RGD:1605633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345273 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:7240710 20130425 OMIM 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 PMID:10398246|PMID:15162322|PMID:15342698|PMID:25741868|PMID:8288232 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1345273 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345273 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561061 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345273 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561062 Fam117a family with sequence similarity 117, member A gene DOID:630 genetic disease ISO RGD:1604587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561064 Myoz1 myozenin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1351397 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1561064 Myoz1 myozenin 1 gene DOID:630 genetic disease ISO RGD:1351397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561065 Phf8 PHD finger protein 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347460 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561065 Phf8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:7240710 20130221 OMIM 1561065 Phf8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:10398231|PMID:16199551|PMID:17594395|PMID:17661819|PMID:25741868|PMID:28492532 1561065 Phf8 PHD finger protein 8 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1347460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1561065 Phf8 PHD finger protein 8 gene DOID:10283 prostate cancer ISO RGD:1347460 D RGD:9586733|PMID:22120715 20141003 RGD mRNA:increased expression:prostate (human) 1561065 Phf8 PHD finger protein 8 gene DOID:1059 intellectual disability ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 1561065 Phf8 PHD finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1347460 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561065 Phf8 PHD finger protein 8 gene DOID:630 genetic disease ISO RGD:1347460 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1561067 Rbpms RNA binding protein, mRNA processing factor gene DOID:630 genetic disease ISO RGD:1342648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561068 Mcmdc2 minichromosome maintenance domain containing 2 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605856 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 1561068 Mcmdc2 minichromosome maintenance domain containing 2 gene DOID:14227 azoospermia ISO RGD:1605856 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1561068 Mcmdc2 minichromosome maintenance domain containing 2 gene DOID:630 genetic disease ISO RGD:1605856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561069 Fbxo31 F-box protein 31 gene DOID:0050669 spastic cerebral palsy ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic cerebral palsy PMID:32989326|PMID:33675180 1561069 Fbxo31 F-box protein 31 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 1561069 Fbxo31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:7240710 20171011 OMIM 1561069 Fbxo31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45 PMID:25741868|PMID:32989326|PMID:33675180 1561069 Fbxo31 F-box protein 31 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351564 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1561069 Fbxo31 F-box protein 31 gene DOID:630 genetic disease ISO RGD:1351564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561069 Fbxo31 F-box protein 31 gene DOID:8433 thyroid malformation ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 1561069 Fbxo31 F-box protein 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351564 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1561071 Ankar ankyrin and armadillo repeat containing gene DOID:0111944 immunodeficiency 31B ISO RGD:1603564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1561071 Ankar ankyrin and armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1603564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561071 Ankar ankyrin and armadillo repeat containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603564 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561074 Trim43a tripartite motif-containing 43A gene DOID:630 genetic disease ISO RGD:1353905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561076 Spdye4 speedy/RINGO cell cycle regulator family member E4 gene DOID:630 genetic disease ISO RGD:2303837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561078 Tas2r135 taste receptor, type 2, member 135 gene DOID:1909 melanoma ISO RGD:1347652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1561078 Tas2r135 taste receptor, type 2, member 135 gene DOID:630 genetic disease ISO RGD:1347652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561080 Wipf2 WAS/WASL interacting protein family, member 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1561080 Wipf2 WAS/WASL interacting protein family, member 2 gene DOID:630 genetic disease ISO RGD:1603178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561088 Orc5 origin recognition complex, subunit 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320971 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561088 Orc5 origin recognition complex, subunit 5 gene DOID:630 genetic disease ISO RGD:1320971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:0050425 restless legs syndrome ISO RGD:1348083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18660810 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:10283 prostate cancer ISO RGD:1348083 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:1059 intellectual disability ISO RGD:1348083 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1348083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19546859 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:630 genetic disease ISO RGD:1348083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 1561090 Ptprd protein tyrosine phosphatase, receptor type, D gene DOID:9008939 Breast Neoplasms ISO RGD:1348083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 1561092 Mdm1 Mdm1 nuclear protein gene DOID:10871 age related macular degeneration ISS RGD:1621610 D RGD:13592920 20180518 MouseDO 1561092 Mdm1 Mdm1 nuclear protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1621610 D RGD:10412062|PMID:18805803 20151113 RGD DNA, mRNA:nonsense mutation, decreased expression:retina 1561092 Mdm1 Mdm1 nuclear protein gene DOID:630 genetic disease ISO RGD:1352515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561099 Zc3hc1 zinc finger, C3HC-type containing 1 gene DOID:3393 coronary artery disease ISO RGD:1347342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 1561099 Zc3hc1 zinc finger, C3HC-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347342 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561099 Zc3hc1 zinc finger, C3HC-type containing 1 gene DOID:630 genetic disease ISO RGD:1347342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561099 Zc3hc1 zinc finger, C3HC-type containing 1 gene DOID:9000528 Coronary Disease ISO RGD:1347342 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1561099 Zc3hc1 zinc finger, C3HC-type containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347342 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1561100 Bves blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:7240710 20190315 OMIM 1561100 Bves blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X PMID:25741868|PMID:26642364|PMID:28492532|PMID:31119192|PMID:35660068 1561100 Bves blood vessel epicardial substance gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344210 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868|PMID:31119192 1561100 Bves blood vessel epicardial substance gene DOID:630 genetic disease ISO RGD:1344210 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1561104 Cd209d CD209d molecule gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:1320216 D RGD:39938981|PMID:24874302 20201016 RGD DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) 1561104 Cd209d CD209d molecule gene DOID:0050827 rheumatic heart disease ISO RGD:1320216 D RGD:41410815|PMID:30261069 20210216 RGD protein:increased expression:left cardiac atrium, dendritic cell (human) 1561104 Cd209d CD209d molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1320216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1561104 Cd209d CD209d molecule gene DOID:0080599 Coronavirus infectious disease ISO RGD:1320216 D RGD:9068941 20220825 RGD PMID:20864747|REF_RGD_ID:5131184 1561104 Cd209d CD209d molecule gene DOID:0080600 COVID-19 ISO RGD:1320216 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 1561104 Cd209d CD209d molecule gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1320216 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1561104 Cd209d CD209d molecule gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:20050784|REF_RGD_ID:5131185 1561104 Cd209d CD209d molecule gene DOID:12205 dengue disease ISO RGD:1320216 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:15838506 1561104 Cd209d CD209d molecule gene DOID:12205 dengue disease ISO RGD:1320216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dengue fever, protection against | ClinVar Annotator: match by term: Dengue virus, susceptibility to PMID:15564514|PMID:15838506|PMID:16379498|PMID:25741868 1561104 Cd209d CD209d molecule gene DOID:12205 dengue disease severity ISO RGD:1320216|RGD:1558208 D RGD:39939064|PMID:16274635 20201026 RGD DNA:SNP:promoter: -336G>A (human) 1561104 Cd209d CD209d molecule gene DOID:12205 dengue disease susceptibility ISO RGD:1320216 D RGD:7240710 20230505 OMIM 1561104 Cd209d CD209d molecule gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:1320216 D RGD:39938993|PMID:15838506 20210215 RGD DNA:SNPs:introns, promoter:multiple (human) 1561104 Cd209d CD209d molecule gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1320216 D RGD:41410809|PMID:21245921 20210215 RGD DNA:SNP:promoter: -336 A>G (rs4804803) (human) 1561104 Cd209d CD209d molecule gene DOID:13564 aspergillosis ISO RGD:1320216 D RGD:5131183|PMID:21381282 20110422 RGD 1561104 Cd209d CD209d molecule gene DOID:1883 hepatitis C ISO RGD:1320216 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 1561104 Cd209d CD209d molecule gene DOID:2841 asthma ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:21471959|REF_RGD_ID:5131188 1561104 Cd209d CD209d molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1320216 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:16379498 1561104 Cd209d CD209d molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1320216 D RGD:39938981|PMID:24874302 20201016 RGD DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human) 1561104 Cd209d CD209d molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1320216|RGD:1558208 D RGD:39939062|PMID:19126442 20201026 RGD associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) 1561104 Cd209d CD209d molecule gene DOID:399 tuberculosis ISO RGD:1320216 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1561104 Cd209d CD209d molecule gene DOID:399 tuberculosis ISO RGD:1320216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:15564514|PMID:15838506|PMID:16379498|PMID:25741868 1561104 Cd209d CD209d molecule gene DOID:399 tuberculosis susceptibility ISO RGD:1320216 D RGD:7240710 20190502 OMIM 1561104 Cd209d CD209d molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320216 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:15564514 1561104 Cd209d CD209d molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:15564514|PMID:15838506|PMID:16379498|PMID:25741868 1561104 Cd209d CD209d molecule gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1320216 D RGD:7240710 20190502 OMIM 1561104 Cd209d CD209d molecule gene DOID:630 genetic disease ISO RGD:1320216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561104 Cd209d CD209d molecule gene DOID:635 acquired immunodeficiency syndrome disease_progression ISO RGD:1320216|RGD:1558208 D RGD:39939010|PMID:17530998 20201025 RGD associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) 1561104 Cd209d CD209d molecule gene DOID:6432 pulmonary hypertension ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:17107989|REF_RGD_ID:5131187 1561104 Cd209d CD209d molecule gene DOID:9001488 Human Influenza susceptibility ISO RGD:1320216 D RGD:9068941 20200609 RGD PMID:21191006|REF_RGD_ID:5131189 1561104 Cd209d CD209d molecule gene DOID:9002670 HTLV-I Infections susceptibility ISO RGD:1320216 D RGD:41410814|PMID:19264667 20210215 RGD DNA:SNPs,haplotypes:promoter:multiple (human) 1561104 Cd209d CD209d molecule gene DOID:9003219 Invasive Pulmonary Aspergillosis susceptibility ISO RGD:1320216 D RGD:39938996|PMID:22384201 20201019 RGD DNA:SNPs:3'utr,intron:multiple 1561104 Cd209d CD209d molecule gene DOID:9004017 Chronic Hepatitis C ISO RGD:1320216 D RGD:39939007|PMID:27348632 20201020 RGD DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human) 1561104 Cd209d CD209d molecule gene DOID:9005106 Animal Toxoplasmosis treatment ISO RGD:1558208 D RGD:39939012|PMID:32391004 20201020 RGD 1561105 Gal3st4 galactose-3-O-sulfotransferase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351990 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561105 Gal3st4 galactose-3-O-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1351990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561109 Slc35f4 solute carrier family 35, member F4 gene DOID:630 genetic disease ISO RGD:1351439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561110 Fam151b family with sequence similarity 151, member B gene DOID:630 genetic disease ISO RGD:1603888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561110 Fam151b family with sequence similarity 151, member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603888 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561112 Fem1a fem-1 homolog A gene DOID:630 genetic disease ISO RGD:1353975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561113 Bbln bublin coiled coil protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1561113 Bbln bublin coiled coil protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1561113 Bbln bublin coiled coil protein gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1342591 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1561113 Bbln bublin coiled coil protein gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1561113 Bbln bublin coiled coil protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1561116 Heatr5a HEAT repeat containing 5A gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347266 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 1561116 Heatr5a HEAT repeat containing 5A gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347266 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1561116 Heatr5a HEAT repeat containing 5A gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1347266 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1561116 Heatr5a HEAT repeat containing 5A gene DOID:14330 Parkinson's disease ISO RGD:1347266 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinson's disease PMID:20818383|PMID:22072591|PMID:25741868|PMID:32518176|PMID:33224084 1561116 Heatr5a HEAT repeat containing 5A gene DOID:630 genetic disease ISO RGD:1347266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561116 Heatr5a HEAT repeat containing 5A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1561119 Kcp kielin cysteine rich BMP regulator gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 1561119 Kcp kielin cysteine rich BMP regulator gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 1561119 Kcp kielin cysteine rich BMP regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601689 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561119 Kcp kielin cysteine rich BMP regulator gene DOID:630 genetic disease ISO RGD:1601689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:23847139|PMID:25741868|PMID:27735924|PMID:28492532|PMID:28559085 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050817 Stargardt disease ISO RGD:1351534 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:7240710 20130425 OMIM 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:16612614|PMID:19710410|PMID:19878916|PMID:21618346|PMID:23029027|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31260034|PMID:31486839|PMID:33546218 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:10448279|PMID:19878916 20151207 RGD DNA:missense mutation:cds:p.S1087V (human) 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:10448280|PMID:19710410 20151207 RGD DNA:missense mutation:cds:p.R1090L (human) 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28166811|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:9536098 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:1059 intellectual disability ISO RGD:1351534 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:5419 schizophrenia ISO RGD:1351534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:630 genetic disease ISO RGD:1351534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561120 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:8501 fundus dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16612614|PMID:19878916|PMID:21618346|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:27208204|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:32037395|PMID:33429167|PMID:33576794 1561121 Phldb3 pleckstrin homology-like domain, family B, member 3 gene DOID:5419 schizophrenia ISO RGD:1345533 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561121 Phldb3 pleckstrin homology-like domain, family B, member 3 gene DOID:630 genetic disease ISO RGD:1345533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561123 Itgax integrin subunit alpha X gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 1561123 Itgax integrin subunit alpha X gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1348968 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1561123 Itgax integrin subunit alpha X gene DOID:630 genetic disease ISO RGD:1348968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561125 Paox polyamine oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:1320571 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1561125 Paox polyamine oxidase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320571 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1561125 Paox polyamine oxidase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320571 D RGD:151667418|PMID:31016788 20220407 RGD DNA:SNPs: :rs7316, rs1046175(human) 1561125 Paox polyamine oxidase gene DOID:630 genetic disease ISO RGD:1320571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561125 Paox polyamine oxidase gene DOID:9007096 Stroke ISO RGD:1320571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 1561126 Ccdc33 coiled-coil domain containing 33 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1561126 Ccdc33 coiled-coil domain containing 33 gene DOID:2717 Bloom syndrome ISO RGD:1602211 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561126 Ccdc33 coiled-coil domain containing 33 gene DOID:5419 schizophrenia ISO RGD:1602211 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561126 Ccdc33 coiled-coil domain containing 33 gene DOID:630 genetic disease ISO RGD:1602211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561126 Ccdc33 coiled-coil domain containing 33 gene DOID:9256 colorectal cancer ISO RGD:1602211 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561129 Tmem174 transmembrane protein 174 gene DOID:630 genetic disease ISO RGD:1606156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561129 Tmem174 transmembrane protein 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606156 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561131 Itprid1 ITPR interacting domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604967 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561131 Itprid1 ITPR interacting domain containing 1 gene DOID:630 genetic disease ISO RGD:1604967 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561132 Susd5 sushi domain containing 5 gene DOID:630 genetic disease ISO RGD:1607061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561140 Zbtb3 zinc finger and BTB domain containing 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1561140 Zbtb3 zinc finger and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1353634 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561140 Zbtb3 zinc finger and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1353634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561142 Asb12 ankyrin repeat and SOCS box-containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349928 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561142 Asb12 ankyrin repeat and SOCS box-containing 12 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 1561142 Asb12 ankyrin repeat and SOCS box-containing 12 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 1561142 Asb12 ankyrin repeat and SOCS box-containing 12 gene DOID:12849 autistic disorder ISO RGD:1349928 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561142 Asb12 ankyrin repeat and SOCS box-containing 12 gene DOID:630 genetic disease ISO RGD:1349928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561144 Chst5 carbohydrate sulfotransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1342606 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1561144 Chst5 carbohydrate sulfotransferase 5 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1342606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 1561144 Chst5 carbohydrate sulfotransferase 5 gene DOID:2565 macular corneal dystrophy ISO RGD:1342606 D RGD:7240710 20130619 OMIM 1561144 Chst5 carbohydrate sulfotransferase 5 gene DOID:2565 macular corneal dystrophy ISO RGD:1342606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy | ClinVar Annotator: match by term: Macular corneal dystrophy, type II PMID:11017086|PMID:11278593|PMID:11818380|PMID:12824236|PMID:12882775|PMID:14609920|PMID:14735064|PMID:14984470|PMID:15013869|PMID:15652851|PMID:15953452|PMID:16207214|PMID:16568029|PMID:17093400|PMID:17896316|PMID:17962390|PMID:18500531|PMID:19204788|PMID:19337156|PMID:19365571|PMID:19710953|PMID:20539220|PMID:24033266|PMID:24311932|PMID:24926691|PMID:25081284|PMID:25741868|PMID:26604660|PMID:27439461|PMID:28492532|PMID:29221207|PMID:32472422|PMID:33816482|PMID:35985662 1561144 Chst5 carbohydrate sulfotransferase 5 gene DOID:630 genetic disease ISO RGD:1342606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561145 Tmem273 transmembrane protein 273 gene DOID:11372 megacolon ISO RGD:1344407 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1561145 Tmem273 transmembrane protein 273 gene DOID:5419 schizophrenia ISO RGD:1344407 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561149 RGD1561149 similar to mKIAA1522 protein gene DOID:630 genetic disease ISO RGD:1602871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561149 RGD1561149 similar to mKIAA1522 protein gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561153 Myo7b myosin VIIb gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 1561153 Myo7b myosin VIIb gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 1561153 Myo7b myosin VIIb gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1352567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1561153 Myo7b myosin VIIb gene DOID:630 genetic disease ISO RGD:1352567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561158 Ms4a15 membrane spanning 4-domains A15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1561158 Ms4a15 membrane spanning 4-domains A15 gene DOID:1059 intellectual disability ISO RGD:1603162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561158 Ms4a15 membrane spanning 4-domains A15 gene DOID:630 genetic disease ISO RGD:1603162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561162 Srsf12 serine and arginine rich splicing factor 12 gene DOID:630 genetic disease ISO RGD:1606967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561167 Tmem186 transmembrane protein 186 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1604027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 1561167 Tmem186 transmembrane protein 186 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1604027 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 1561167 Tmem186 transmembrane protein 186 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1561167 Tmem186 transmembrane protein 186 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1561167 Tmem186 transmembrane protein 186 gene DOID:5812 MHC class II deficiency ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1561167 Tmem186 transmembrane protein 186 gene DOID:630 genetic disease ISO RGD:1604027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0050890 synucleinopathy ameliorates IMP D RGD:13462057|PMID:24927544 20221201 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060180 colitis ISO RGD:1557751 D RGD:5508401|PMID:21983832 20111014 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060260 ptosis ISO RGD:1353141 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060368 Parkinson's disease 2 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:5508405|PMID:21796139 20111014 RGD DNA:missense mutation:cds:p.G2385R (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:7240710 20130221 OMIM 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 PMID:15541308|PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15925109|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16003110|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16157909|PMID:16172858|PMID:16199547|PMID:16240353|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16272164|PMID:16311269|PMID:16321986|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16616379|PMID:16622854|PMID:16633828|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17215492|PMID:17222106|PMID:17353388|PMID:17419834|PMID:17442267|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17540608|PMID:17576681|PMID:17584768|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17803033|PMID:17804834|PMID:17914064|PMID:17938369|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18337586|PMID:18358451|PMID:18412265|PMID:18539534|PMID:18539535|PMID:18591067|PMID:18688798|PMID:18704525|PMID:18716801|PMID:18781329|PMID:18923807|PMID:18973254|PMID:18973807|PMID:18981379|PMID:18986508|PMID:19006185|PMID:19020907|PMID:19283415|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19667187|PMID:19699188|PMID:19735093|PMID:19741132|PMID:19781641|PMID:19800393|PMID:20008657|PMID:20177695|PMID:20186690|PMID:20197411|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20721913|PMID:21060682|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21406209|PMID:21494637|PMID:21538529|PMID:21632271|PMID:21641848|PMID:21658387|PMID:21661047|PMID:21753163|PMID:21796139|PMID:21850687|PMID:21885347|PMID:22004453|PMID:22251894|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22539006|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23075850|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23472874|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24082139|PMID:24148854|PMID:24243757|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24470158|PMID:24488318|PMID:24496098|PMID:24565865|PMID:24695735|PMID:24816003|PMID:24821816|PMID:24973808|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25174890|PMID:25243190|PMID:25316291|PMID:25330418|PMID:25355420|PMID:25360523|PMID:25378673|PMID:25741868|PMID:25821816|PMID:25943890|PMID:26062626|PMID:26213354|PMID:26251043|PMID:26363496|PMID:26467025|PMID:26930193|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27832104|PMID:28103901|PMID:28166811|PMID:28453723|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29248340|PMID:29369408|PMID:29386392|PMID:29402177|PMID:29576439|PMID:29800472|PMID:29859640|PMID:30039155|PMID:30502028|PMID:30598256|PMID:30796162|PMID:32171587|PMID:32398759|PMID:32580205|PMID:32677286|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:7898705|PMID:9276200|PMID:9536098 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21538529|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24565865|PMID:24660942|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:27111571|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1353141 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:23046578|PMID:25017139|PMID:26558463 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:5508414|PMID:20729864 20111017 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1353141 D RGD:8554872 20201103 ClinVar ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:1024 leprosy ISO RGD:1353141 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:26467025|PMID:28492532 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:1289 neurodegenerative disease IMP D RGD:13462057|PMID:24927544 20171208 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:10450518|PMID:26223426 20160115 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:10450521|PMID:25639775 20160115 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:17388990|PMID:19915575|PMID:19915576|PMID:20205471|PMID:22043175|PMID:23017109|PMID:23472874|PMID:23628791|PMID:25149416|PMID:25475535|PMID:25631236 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:5508399|PMID:21989859 20111014 RGD DNA:missense mutations:cds:multiple 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:5508404|PMID:21954089 20111014 RGD DNA:missense mutation:cds:p.G2019S (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:5508408|PMID:21167764 20111014 RGD DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:5508415|PMID:20721916 20111017 RGD DNA:mutation: :p.R1441G (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:5508416|PMID:20669305 20111017 RGD DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:5508420|PMID:20720502 20111017 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease PMID:16172858|PMID:16633828|PMID:17019612|PMID:17659642|PMID:18688798|PMID:18704525|PMID:19357115|PMID:19741132|PMID:19800393|PMID:20186690|PMID:20301387|PMID:22612223|PMID:24033266|PMID:25027012|PMID:25243190|PMID:25741868|PMID:26467025|PMID:28103901|PMID:28492532 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1353141 D RGD:5508406|PMID:21483109 20111014 RGD DNA:missense mutation:cds:p.G2019S (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1353141 D RGD:5508409|PMID:21159540 20111014 RGD DNA:missense mutation:cds:p.R1398H (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:162 cancer susceptibility ISO RGD:1353141 D RGD:5508410|PMID:20818610 20111014 RGD associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:289 endometriosis ISO RGD:1353141 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353141 D RGD:5508417|PMID:21375368 20111017 RGD mRNA:increased expression:skeletal muscle 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1353141 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:630 genetic disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177|PMID:33158606 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353141 D RGD:5508419|PMID:17082220 20111017 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1353141 D RGD:5508401|PMID:21983832 20111014 RGD DNA:point mutation: :p.T2397M (rs3761863) (human) 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9000071 Signs and Symptoms ISO RGD:1353141 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9001981 Weight Loss ISO RGD:1353141 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353141 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1353141 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19741132 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9008297 Motor Disorders ISO RGD:1353141 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1353141 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1353141 D RGD:5508418|PMID:17639429 20111017 RGD 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1353141 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 1561168 Lrrk2 leucine-rich repeat kinase 2 gene DOID:9743 diabetic neuropathy IEP D RGD:13462056|PMID:24810053 20171208 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell 1561169 Ccdc148 coiled-coil domain containing 148 gene DOID:13938 amenorrhea ISO RGD:1604533 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1561169 Ccdc148 coiled-coil domain containing 148 gene DOID:630 genetic disease ISO RGD:1604533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561171 Ccdc126 coiled-coil domain containing 126 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602081 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561171 Ccdc126 coiled-coil domain containing 126 gene DOID:630 genetic disease ISO RGD:1602081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561171 Ccdc126 coiled-coil domain containing 126 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561172 Lbx2 ladybird homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1561172 Lbx2 ladybird homeobox 2 gene DOID:543 dystonia ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561172 Lbx2 ladybird homeobox 2 gene DOID:630 genetic disease ISO RGD:1347358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561172 Lbx2 ladybird homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561174 Bpifb4 BPI fold containing family B, member 4 gene DOID:630 genetic disease ISO RGD:1344811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561183 Cep63 centrosomal protein 63 gene DOID:0050569 Seckel syndrome ISS RGD:1617588 D RGD:13592920 20180518 MouseDO 1561183 Cep63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:7240710 20140911 OMIM 1561183 Cep63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 6 PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532 1561183 Cep63 centrosomal protein 63 gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 1561183 Cep63 centrosomal protein 63 gene DOID:10907 microcephaly ISO RGD:1602096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983783 1561183 Cep63 centrosomal protein 63 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1602096 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 1561183 Cep63 centrosomal protein 63 gene DOID:630 genetic disease ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 1561183 Cep63 centrosomal protein 63 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602096 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1561189 Retreg3 reticulophagy regulator family member 3 gene DOID:630 genetic disease ISO RGD:1601713 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561190 Nr2c2ap nuclear receptor 2C2-associated protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1606467 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1561190 Nr2c2ap nuclear receptor 2C2-associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1606467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:25741868|PMID:28492532 1561190 Nr2c2ap nuclear receptor 2C2-associated protein gene DOID:630 genetic disease ISO RGD:1606467 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561190 Nr2c2ap nuclear receptor 2C2-associated protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1606467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:7240710 20190315 OMIM 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29499165 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1342517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:24033266|PMID:25741868 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:1599382|PMID:12393799 20070201 RGD DNA:nonsense mutation:exon: 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:7240710 20130221 OMIM 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 28 PMID:12393799|PMID:23813623|PMID:24033266|PMID:25741868|PMID:28492532 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1342517 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:2566 corneal dystrophy ISO RGD:1342517 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:29499165 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1342517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:9004538 Hearing Loss ISO RGD:1342517 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:7240710 20170308 OMIM 1561191 Grhl2 grainyhead-like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome PMID:24033266|PMID:25152456|PMID:25741868|PMID:28492532 1561194 Tas2r108 taste receptor, type 2, member 108 gene DOID:0080690 RASopathy ISO RGD:1342891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1561194 Tas2r108 taste receptor, type 2, member 108 gene DOID:630 genetic disease ISO RGD:1342891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561194 Tas2r108 taste receptor, type 2, member 108 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1342891 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1561196 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731673 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1561196 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:2367 neuroaxonal dystrophy ISO RGD:731674 D RGD:1302546|PMID:11555633 20150211 RGD 1561196 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:630 genetic disease ISO RGD:731673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561196 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:9000123 Deglutition Disorders ISO RGD:731674 D RGD:1302546|PMID:11555633 20150211 RGD 1561196 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1561196 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:9002955 Nerve Degeneration ISO RGD:731674 D RGD:1302546|PMID:11555633 20150211 RGD 1561200 Ankrd53 ankyrin repeat domain 53 gene DOID:543 dystonia ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561200 Ankrd53 ankyrin repeat domain 53 gene DOID:630 genetic disease ISO RGD:1605329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561200 Ankrd53 ankyrin repeat domain 53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561201 Foxo4 forkhead box O4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353756 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561201 Foxo4 forkhead box O4 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1556902 D RGD:155630604|PMID:17254969 20221025 RGD 1561201 Foxo4 forkhead box O4 gene DOID:1059 intellectual disability ISO RGD:1353756 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561201 Foxo4 forkhead box O4 gene DOID:10808 gastric ulcer IEP D RGD:10402364|PMID:22735908 20151021 RGD mRNA,protein:increased expression:gastric mucosa: 1561201 Foxo4 forkhead box O4 gene DOID:12849 autistic disorder ISO RGD:1353756 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561201 Foxo4 forkhead box O4 gene DOID:251 alcohol-induced mental disorder IEP D RGD:10402360|PMID:23292333 20151021 RGD protein:increased phosphorylation:small intestine: 1561201 Foxo4 forkhead box O4 gene DOID:255 hemangioma ISO RGD:1556902 D RGD:155630604|PMID:17254969 20221025 RGD 1561201 Foxo4 forkhead box O4 gene DOID:607 paraplegia IEP D RGD:5509082|PMID:18236467 20151021 RGD protein:increased expression:skeletal muscle: 1561201 Foxo4 forkhead box O4 gene DOID:630 genetic disease ISO RGD:1353756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561201 Foxo4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:10402361|PMID:17242183 20151021 RGD 1561201 Foxo4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:10402362|PMID:16054032 20151021 RGD protein:increased expression:smooth muscle cell: 1561201 Foxo4 forkhead box O4 gene DOID:9007898 FG Syndrome 1 ISO RGD:1353756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1561201 Foxo4 forkhead box O4 gene DOID:9008824 Sarcopenia IEP D RGD:10402356|PMID:16870627 20151021 RGD 1561203 Polr2h RNA polymerase II, I and III subunit H gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1561203 Polr2h RNA polymerase II, I and III subunit H gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1561203 Polr2h RNA polymerase II, I and III subunit H gene DOID:0111546 Currarino syndrome ISO RGD:1314889 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1561205 Nkain1 Sodium/potassium transporting ATPase interacting 1 gene DOID:630 genetic disease ISO RGD:1606507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0050476 Barth syndrome ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1343770 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 1561214 Pdzd4 PDZ domain containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343770 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1561214 Pdzd4 PDZ domain containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561214 Pdzd4 PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: intellectual disabilities 1561214 Pdzd4 PDZ domain containing 4 gene DOID:10907 microcephaly ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microcephaly 1561214 Pdzd4 PDZ domain containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561214 Pdzd4 PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1343770 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561214 Pdzd4 PDZ domain containing 4 gene DOID:13628 favism ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1561214 Pdzd4 PDZ domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1561214 Pdzd4 PDZ domain containing 4 gene DOID:480 movement disease ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Movement disorder 1561214 Pdzd4 PDZ domain containing 4 gene DOID:607 paraplegia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561214 Pdzd4 PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1343770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561214 Pdzd4 PDZ domain containing 4 gene DOID:9002720 Splenomegaly ISO RGD:1343770 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1561222 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351025 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1561222 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1351025 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561222 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:630 genetic disease ISO RGD:1351025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561222 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:9256 colorectal cancer ISO RGD:1351025 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561223 Vwde von Willebrand factor D and EGF domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2299987 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561223 Vwde von Willebrand factor D and EGF domains gene DOID:630 genetic disease ISO RGD:2299987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561227 Map3k13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0080375 gastroesophageal adenocarcinoma ISO RGD:1351586 D RGD:151356972|PMID:33334899 20220221 RGD 1561227 Map3k13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1351586 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1561227 Map3k13 mitogen-activated protein kinase kinase kinase 13 gene DOID:630 genetic disease ISO RGD:1351586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561235 Leap2 liver enriched antimicrobial peptide 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561235 Leap2 liver enriched antimicrobial peptide 2 gene DOID:630 genetic disease ISO RGD:1601831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561235 Leap2 liver enriched antimicrobial peptide 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601831 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561235 Leap2 liver enriched antimicrobial peptide 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561238 Rnf122 ring finger protein 122 gene DOID:630 genetic disease ISO RGD:1352221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561241 Lcorl ligand dependent nuclear receptor corepressor-like gene DOID:630 genetic disease ISO RGD:1604965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561241 Lcorl ligand dependent nuclear receptor corepressor-like gene DOID:9003996 Birth Weight ISO RGD:1604965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 1561243 Cep164 centrosomal protein 164 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:0080690 RASopathy ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:7240710 20140911 OMIM 1561243 Cep164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:16199547|PMID:17576681|PMID:17954613|PMID:22863007|PMID:24033266|PMID:24882706|PMID:25340510|PMID:25741868|PMID:27708425|PMID:28125082|PMID:28492532|PMID:29974258|PMID:31785789|PMID:32055034|PMID:32367404|PMID:34013113|PMID:34132027|PMID:34499853|PMID:9536098 1561243 Cep164 centrosomal protein 164 gene DOID:0111971 immunodeficiency 18 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:0111972 immunodeficiency 19 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:0111973 immunodeficiency 17 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:1059 intellectual disability ISO RGD:1605084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561243 Cep164 centrosomal protein 164 gene DOID:12712 nephronophthisis ISO RGD:1605084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:630 genetic disease ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605084 D RGD:151665169|PMID:22004425 20220315 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human) 1561243 Cep164 centrosomal protein 164 gene DOID:8501 fundus dystrophy ISO RGD:1605084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 1561243 Cep164 centrosomal protein 164 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605084 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1561243 Cep164 centrosomal protein 164 gene DOID:9007661 Dwarfism ISO RGD:1605084 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1561250 Rup2 urinary protein 2 gene DOID:3021 acute kidney failure EXP D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 1561250 Rup2 urinary protein 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions EXP D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 1561254 Acer3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1346570 D RGD:35673324|PMID:31949129 20200714 RGD mRNA:increased expression:liver 1561254 Acer3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1558553 D RGD:35673324|PMID:31949129 20200714 RGD 1561254 Acer3 alkaline ceramidase 3 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1558553 D RGD:35673324|PMID:31949129 20200714 RGD 1561254 Acer3 alkaline ceramidase 3 gene DOID:1059 intellectual disability ISO RGD:1346570 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561254 Acer3 alkaline ceramidase 3 gene DOID:1909 melanoma ISO RGD:1346570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1561254 Acer3 alkaline ceramidase 3 gene DOID:219 colon cancer severity ISO RGD:1558553 D RGD:35673322|PMID:26938296 20200714 RGD associated with colitis 1561254 Acer3 alkaline ceramidase 3 gene DOID:630 genetic disease ISO RGD:1346570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561254 Acer3 alkaline ceramidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346570 D RGD:35673325|PMID:30097213 20200714 RGD 1561254 Acer3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis ISO RGD:1558553 D RGD:35673322|PMID:26938296 20200714 RGD mRNA,protein:decreased expression, decreased activity:colon: 1561254 Acer3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis severity ISO RGD:1558553 D RGD:35673322|PMID:26938296 20200714 RGD 1561254 Acer3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:7240710 20190315 OMIM 1561254 Acer3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723 1561255 Lrig3 leucine-rich repeats and immunoglobulin-like domains 3 gene DOID:630 genetic disease ISO RGD:1347856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561256 Shisa2 shisa family member 2 gene DOID:630 genetic disease ISO RGD:1353356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561258 Myl10 myosin light chain 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603931 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561258 Myl10 myosin light chain 10 gene DOID:630 genetic disease ISO RGD:1603931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561260 Triqk triple QxxK/R motif containing gene DOID:630 genetic disease ISO RGD:2299991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561261 Zic3 Zic family member 3 gene DOID:0050545 visceral heterotaxy ISS RGD:1557273 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1561261 Zic3 Zic family member 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1561261 Zic3 Zic family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347201 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561261 Zic3 Zic family member 3 gene DOID:0060825 Christianson syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1561261 Zic3 Zic family member 3 gene DOID:0080006 bone development disease ISO RGD:1347201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 1561261 Zic3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:7240710 20151216 OMIM 1561261 Zic3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:10980576|PMID:14681828|PMID:17764085|PMID:23427188|PMID:24033266|PMID:24123890|PMID:25741868|PMID:2629409|PMID:26294094|PMID:28492532|PMID:32753700 1561261 Zic3 Zic family member 3 gene DOID:12849 autistic disorder ISO RGD:1347201 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561261 Zic3 Zic family member 3 gene DOID:2907 Goldenhar syndrome ISS RGD:1557273 D RGD:13592920 20180518 MouseDO OMIM:164210 1561261 Zic3 Zic family member 3 gene DOID:630 genetic disease ISO RGD:1347201 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561261 Zic3 Zic family member 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1561261 Zic3 Zic family member 3 gene DOID:758 situs inversus ISO RGD:1347201 D RGD:1599909|PMID:9354794 20070221 RGD X-linked visceral heterotaxy, OMIM:306955 1561261 Zic3 Zic family member 3 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347201 D RGD:1599909|PMID:9354794 20070221 RGD X-linked visceral heterotaxy, OMIM:306955 1561261 Zic3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:7240710 20150304 OMIM 1561261 Zic3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia PMID:10980576|PMID:14681828|PMID:15319456|PMID:15358621|PMID:16019685|PMID:17295247|PMID:17764085|PMID:18342287|PMID:18716025|PMID:21465648|PMID:23427188|PMID:23872418|PMID:24033266|PMID:24123890|PMID:25741868|PMID:26014430|PMID:2629409|PMID:26294094|PMID:27406248|PMID:28492532|PMID:30622330|PMID:32753700|PMID:3674105|PMID:9354794 1561261 Zic3 Zic family member 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1557273 D RGD:12738220|PMID:22234993 20170130 RGD 1561261 Zic3 Zic family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 1561261 Zic3 Zic family member 3 gene DOID:9008797 Facial Asymmetry ISO RGD:1347201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 1561261 Zic3 Zic family member 3 gene DOID:9565 dextrocardia ISO RGD:1347201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 1561262 Hs3st3a1 heparan sulfate-glucosamine 3-sulfotransferase 3A1 gene DOID:630 genetic disease ISO RGD:1322170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561264 Fdx2 ferredoxin 2 gene DOID:630 genetic disease ISO RGD:1604250 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28803783 1561264 Fdx2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 1561264 Fdx2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24281368|PMID:25741868|PMID:28492532|PMID:30010796 1561264 Fdx2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 1561264 Fdx2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY PMID:25741868|PMID:28492532 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346001 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:7240710 20130425 OMIM 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:11782983|PMID:15746149|PMID:17576681|PMID:23901204|PMID:25741868|PMID:26235985|PMID:26467025|PMID:26467484|PMID:28492532|PMID:30985297|PMID:9536098 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1346001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:7240710 20140903 OMIM 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:8554872 20141111 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:20629132|PMID:23595882 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:10763 hypertension IEP D RGD:5132599|PMID:21321306 20181115 RGD 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:12849 autistic disorder ISO RGD:1346001 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346001 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467484|PMID:28492532 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:7240710 20200429 OMIM 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr PMID:25741868|PMID:29127204 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000784 Fibrosis ISO RGD:1346001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21795644 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346001 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 1561269 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1346001 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1561270 Zfp248 zinc finger protein 248 gene DOID:630 genetic disease ISO RGD:1349221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561274 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1561274 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344618 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1561274 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1344618 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561274 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561274 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344618 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1561274 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1344618 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1561276 Or4f4b olfactory receptor family 4 subfamily F member 4B gene DOID:630 genetic disease ISO RGD:1350427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561279 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346365 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561279 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:7240710 20190315 OMIM 1561279 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEHMO syndrome PMID:23063529|PMID:25741868|PMID:25741869|PMID:27333055|PMID:28055140 1561279 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:12849 autistic disorder ISO RGD:1346365 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561279 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:630 genetic disease ISO RGD:1346365 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561279 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346365 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561281 Krtap2-1 keratin associated protein 2-1 gene DOID:630 genetic disease ISO RGD:1344432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561287 Fam32a family with sequence similarity 32, member A gene DOID:630 genetic disease ISO RGD:1316761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1603679 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: intellectual disabilities 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:13938 amenorrhea ISO RGD:1603679 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:540 strabismus ISO RGD:1603679 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Strabismus 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561291 Ahctf1 AT hook containing transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603679 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561292 Il22 interleukin 22 gene DOID:2048 autoimmune hepatitis ISO RGD:1344987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 1561292 Il22 interleukin 22 gene DOID:2841 asthma ISO RGD:1344987 D RGD:5147403|PMID:21297073 20110803 RGD protein:increased expression:serum 1561292 Il22 interleukin 22 gene DOID:2841 asthma ISO RGD:1556865 D RGD:5147401|PMID:21789181 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:2841 asthma severity ISO RGD:1344987 D RGD:5147409|PMID:21535180 20110803 RGD mRNA:increased expression:blood, mononuclear cell 1561292 Il22 interleukin 22 gene DOID:2841 asthma treatment IMP D RGD:11046261|PMID:21998459 20160404 RGD 1561292 Il22 interleukin 22 gene DOID:3382 liposarcoma ISS RGD:1556865 D RGD:13592920 20180518 MouseDO 1561292 Il22 interleukin 22 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 1561292 Il22 interleukin 22 gene DOID:399 tuberculosis ISO RGD:1344987 D RGD:5147402|PMID:21767990 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:4483 rhinitis severity ISO RGD:1344987 D RGD:5147409|PMID:21535180 20110803 RGD mRNA:increased expression:blood, mononuclear cell 1561292 Il22 interleukin 22 gene DOID:630 genetic disease ISO RGD:1344987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561292 Il22 interleukin 22 gene DOID:820 myocarditis IMP D RGD:5147414|PMID:16951323 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:874 bacterial pneumonia ISO RGD:1556865 D RGD:5147404|PMID:21178015 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1344987 D RGD:5147406|PMID:20463292 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9000955 Acute Otitis Media disease_progression IEP D RGD:40818299|PMID:27497403 20201118 RGD protein:increased expression:serum (rat) 1561292 Il22 interleukin 22 gene DOID:9001415 Mycobacterium Infections ISO RGD:1344987 D RGD:5147407|PMID:19864591 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9001488 Human Influenza ISO RGD:1556865 D RGD:5147404|PMID:21178015 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9001488 Human Influenza ISO RGD:1556865 D RGD:5147405|PMID:20504940 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2311529|PMID:19269041 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9004484 Sepsis IEP D RGD:5147412|PMID:19664145 20110803 RGD protein:increased expression:plasma 1561292 Il22 interleukin 22 gene DOID:9004610 Acute Lung Injury ISO RGD:1556865 D RGD:4888524|PMID:20498020 20110803 RGD 1561292 Il22 interleukin 22 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344987 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15122762|PMID:16212920|PMID:23375450 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma susceptibility ISO RGD:1346318 D RGD:1599125|PMID:14508707 20070117 RGD 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:28492532 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:7240710 20130425 OMIM 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:12973667|PMID:14508707|PMID:15725249|PMID:20331448|PMID:22383261|PMID:23386947|PMID:24088041|PMID:25741868|PMID:26335786|PMID:26633545|PMID:28492532|PMID:32860008 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:11476 osteoporosis ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:3529 central core disease ISO RGD:1346318 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:5338 gingival hypertrophy ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1346318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062062|PMID:21743469 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:7427 anthrax disease IDA D RGD:1599126|PMID:17054395 20070117 RGD 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1346318 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346318 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9006081 Osteolysis ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 1561294 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9006836 Contracture ISO RGD:1346318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 1561296 Zxdc ZXD family zinc finger C gene DOID:630 genetic disease ISO RGD:1607003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561296 Zxdc ZXD family zinc finger C gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1607003 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1561296 Zxdc ZXD family zinc finger C gene DOID:9270 alkaptonuria ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1561298 Dcp1a decapping mRNA 1A gene DOID:630 genetic disease ISO RGD:1350050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561300 Nyx nyctalopin gene DOID:0050534 congenital stationary night blindness ISO RGD:1350886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1561300 Nyx nyctalopin gene DOID:0050534 congenital stationary night blindness ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness PMID:25307992|PMID:28492532|PMID:31456290 1561300 Nyx nyctalopin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350886 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561300 Nyx nyctalopin gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1561300 Nyx nyctalopin gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1561300 Nyx nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:7240710 20130221 OMIM 1561300 Nyx nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1A PMID:11062471|PMID:11062472|PMID:16670814|PMID:17392683|PMID:19578023|PMID:23406521|PMID:25741868|PMID:28492532 1561300 Nyx nyctalopin gene DOID:10584 retinitis pigmentosa ISO RGD:1350886 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 1561300 Nyx nyctalopin gene DOID:12849 autistic disorder ISO RGD:1350886 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561300 Nyx nyctalopin gene DOID:630 genetic disease ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561300 Nyx nyctalopin gene DOID:8499 night blindness susceptibility ISO RGD:1350886 D RGD:1601021|PMID:11062471 20070403 RGD Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations 1561300 Nyx nyctalopin gene DOID:8501 fundus dystrophy ISO RGD:1350886 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062471|PMID:19578023|PMID:25741868|PMID:28492532 1561300 Nyx nyctalopin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350886 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561300 Nyx nyctalopin gene DOID:9008296 Eye Abnormalities ISO RGD:1350886 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 1561302 Fam167a family with sequence similarity 167, member A gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1344184 D RGD:8554872 20161206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:19667185 1561302 Fam167a family with sequence similarity 167, member A gene DOID:630 genetic disease ISO RGD:1344184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561302 Fam167a family with sequence similarity 167, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344184 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561303 Cfap73 cilia and flagella associated protein 73 gene DOID:1059 intellectual disability ISO RGD:2311614 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561303 Cfap73 cilia and flagella associated protein 73 gene DOID:630 genetic disease ISO RGD:2311614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561304 Esyt3 extended synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:1605327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:7581368 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343572 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:630 genetic disease ISO RGD:1343572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343572 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9007692 Insulin Resistance ISO RGD:1343572 D RGD:1601446|PMID:12118251 20090724 RGD DNA:nonsense mutation 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9007692 Insulin Resistance ISO RGD:1343572 D RGD:1601468|PMID:7581368 20070423 RGD DNA:polymorphism:exon:p.D905Y (human) 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9007692 Insulin Resistance ISO RGD:1343572 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:25741868|PMID:7581368 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9351 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12118251|PMID:25741868|PMID:28492532 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:2311531|PMID:9726244 20090722 RGD DNA:missense mutations, polymorphisms:CDS, 3' UTR:p.R883S, p.D905Y (human) 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:2311532|PMID:10389856 20090722 RGD DNA:missense mutation::p.D905Y (human) 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:2311560|PMID:11793847 20090724 RGD DNA:missense mutation:cds:p.D905Y (human) 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:7240710 20190315 OMIM 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, severe, digenic | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12118251|PMID:25741868|PMID:7581368 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1343572 D RGD:2311515|PMID:9653600 20090722 RGD DNA:missense mutation: :p.D905Y (human) 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1343572 D RGD:2311552|PMID:10868947 20090723 RGD DNA:missense mutation: :p.D905Y (human) 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1343572 D RGD:2311596|PMID:12831406 20150824 RGD DNA:insertion/deletion 1561312 Ppp1r3a protein phosphatase 1, regulatory subunit 3A gene DOID:9993 hypoglycemia ISO RGD:1343572 D RGD:1601469|PMID:9814479 20110712 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) 1561319 Pcbp1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 HEP D RGD:32716422|PMID:32377375 20200707 RGD mRNA:decreased expression:CD8+ T cells (human) 1561319 Pcbp1 poly(rC) binding protein 1 gene DOID:630 genetic disease ISO RGD:1353218 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561319 Pcbp1 poly(rC) binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353218 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561319 Pcbp1 poly(rC) binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353218 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 1561320 Prrg1 proline rich and Gla domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350141 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561320 Prrg1 proline rich and Gla domain 1 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350141 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1561320 Prrg1 proline rich and Gla domain 1 gene DOID:12849 autistic disorder ISO RGD:1350141 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561320 Prrg1 proline rich and Gla domain 1 gene DOID:630 genetic disease ISO RGD:1350141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561320 Prrg1 proline rich and Gla domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350141 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561320 Prrg1 proline rich and Gla domain 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350141 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1343568 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:1059 intellectual disability ISO RGD:1343568 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:10907 microcephaly ISO RGD:1343568 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:1826 epilepsy ISO RGD:1343568 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1343568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:9000495 Tremor ISO RGD:1343568 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1561324 Kpna5 karyopherin subunit alpha 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1561326 Kctd19 potassium channel tetramerization domain containing 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1561326 Kctd19 potassium channel tetramerization domain containing 19 gene DOID:630 genetic disease ISO RGD:1349783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561326 Kctd19 potassium channel tetramerization domain containing 19 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1349783 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1561336 Lpar2 lysophosphatidic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1312931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561338 Slc6a16 solute carrier family 6, member 16 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1561338 Slc6a16 solute carrier family 6, member 16 gene DOID:630 genetic disease ISO RGD:1353315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561342 Slc35e1 solute carrier family 35, member E1 gene DOID:630 genetic disease ISO RGD:1319908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561343 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1348581 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:28492532 1561343 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1348581 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1561343 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:630 genetic disease ISO RGD:1348581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561343 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1348581 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:25741868 1561343 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:25741868|PMID:28492532 1561345 Rpl39l ribosomal protein L39-like gene DOID:0060575 3MC syndrome 1 ISO RGD:1347635 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1561345 Rpl39l ribosomal protein L39-like gene DOID:630 genetic disease ISO RGD:1347635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561347 Srsf4 serine and arginine rich splicing factor 4 gene DOID:14250 Down syndrome ISO RGD:1350526 D RGD:11039402|PMID:16847874 20160302 RGD protein:increased expression:amniotic fluid (human) 1561347 Srsf4 serine and arginine rich splicing factor 4 gene DOID:234 colon adenocarcinoma ISO RGD:1350526 D RGD:11039405|PMID:9865741 20160302 RGD mRNA:decreased expression:colon mucosa (human) 1561347 Srsf4 serine and arginine rich splicing factor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350526 D RGD:11039407|PMID:21082031 20160303 RGD mRNA:altered expression:kidney (human) 1561347 Srsf4 serine and arginine rich splicing factor 4 gene DOID:630 genetic disease ISO RGD:1350526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561347 Srsf4 serine and arginine rich splicing factor 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1350526 D RGD:11039059|PMID:22722453 20160301 RGD mRNA:decreased expression: (human) 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:0050476 Barth syndrome ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343111 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:11372 megacolon ISO RGD:1343111 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:12849 autistic disorder ISO RGD:1343111 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:13628 favism ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:607 paraplegia ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561352 Mtcp1 mature T-cell proliferation 1 gene DOID:9002720 Splenomegaly ISO RGD:1343111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1561354 C2cd4c C2 calcium-dependent domain containing 4C gene DOID:630 genetic disease ISO RGD:1351171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561357 Lmo3 LIM domain only 3 gene DOID:630 genetic disease ISO RGD:1346701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561359 Ogdh oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:7240710 20130221 OMIM 1561359 Ogdh oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:9536098 1561359 Ogdh oxoglutarate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353072 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561359 Ogdh oxoglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1353072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561359 Ogdh oxoglutarate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353072 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1561361 Slitrk2 SLIT and NTRK-like family, member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1561361 Slitrk2 SLIT and NTRK-like family, member 2 gene DOID:1059 intellectual disability ISO RGD:1344547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561361 Slitrk2 SLIT and NTRK-like family, member 2 gene DOID:12849 autistic disorder ISO RGD:1344547 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561361 Slitrk2 SLIT and NTRK-like family, member 2 gene DOID:630 genetic disease ISO RGD:1344547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561361 Slitrk2 SLIT and NTRK-like family, member 2 gene DOID:9007793 X-Linked Intellectual Developmental Disorder 111 ISO RGD:1344547 D RGD:7240710 20230505 OMIM 1561363 Ift56 intraflagellar transport 56 gene DOID:0050876 Caroli disease ISO RGD:1605330 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:31595528|PMID:32617964 1561363 Ift56 intraflagellar transport 56 gene DOID:0080690 RASopathy ISO RGD:1605330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1561363 Ift56 intraflagellar transport 56 gene DOID:10908 hydrocephalus ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:31595528|PMID:34177428 1561363 Ift56 intraflagellar transport 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605330 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561363 Ift56 intraflagellar transport 56 gene DOID:630 genetic disease ISO RGD:1605330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561363 Ift56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:7240710 20211208 OMIM 1561363 Ift56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome PMID:31595528|PMID:32617964|PMID:34177428 1561365 Gata5 GATA binding protein 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:1354270 D RGD:155260349|PMID:23295592 20221004 RGD DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human) 1561365 Gata5 GATA binding protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1561365 Gata5 GATA binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1354270 D RGD:155260351|PMID:23175127 20221004 RGD DNA:mutation:cds:c.598T>G (p.W200G)(human) 1561365 Gata5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1354270 D RGD:155260354|PMID:24638895 20221005 RGD DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human) 1561365 Gata5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1558341 D RGD:329337340|PMID:22536403 20230427 RGD 1561365 Gata5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease exacerbates ISO RGD:1558341 D RGD:155260352|PMID:21633169 20221004 RGD 1561365 Gata5 GATA binding protein 5 gene DOID:0080333 aortic valve disease 1 ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28387797|PMID:28492532|PMID:30675029 1561365 Gata5 GATA binding protein 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1561365 Gata5 GATA binding protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1561365 Gata5 GATA binding protein 5 gene DOID:10763 hypertension susceptibility ISO RGD:1354270 D RGD:11343485|PMID:26617239 20221004 RGD DNA:SNPs:intron, exon:rs6061245,rs6587239 (human) 1561365 Gata5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:11343485|PMID:26617239 20221004 RGD 1561365 Gata5 GATA binding protein 5 gene DOID:10825 essential hypertension ISS RGD:1558341 D RGD:13592920 20180518 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 1561365 Gata5 GATA binding protein 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1354270 D RGD:155260333|PMID:25543888 20221003 RGD DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) 1561365 Gata5 GATA binding protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22641149|PMID:28492532 1561365 Gata5 GATA binding protein 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354270 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1561365 Gata5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1354270 D RGD:155260356|PMID:22961344 20221005 RGD DNA:mutation:cds:c.595C>G (p.L199V)(human) 1561365 Gata5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1558341 D RGD:329337340|PMID:22536403 20230427 RGD 1561365 Gata5 GATA binding protein 5 gene DOID:630 genetic disease ISO RGD:1354270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22641149|PMID:23040494|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 1561365 Gata5 GATA binding protein 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1354270 D RGD:155260350|PMID:23289003 20221004 RGD DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) 1561365 Gata5 GATA binding protein 5 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 1561365 Gata5 GATA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 1561365 Gata5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:7240710 20190612 OMIM 1561365 Gata5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 PMID:22641149|PMID:22961344|PMID:23031282|PMID:23040494|PMID:23175127|PMID:24638895|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 1561365 Gata5 GATA binding protein 5 gene DOID:9408 acute myocardial infarction susceptibility ISO RGD:1354270 D RGD:155260335|PMID:33684162 20221003 RGD DNA:SNPs:promoter:rs80197101, rs77067995 (human) 1561366 Klhl36 kelch-like family member 36 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350475 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1561366 Klhl36 kelch-like family member 36 gene DOID:5419 schizophrenia ISO RGD:1350475 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561366 Klhl36 kelch-like family member 36 gene DOID:630 genetic disease ISO RGD:1350475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561367 Anln anillin, actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1320339 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561367 Anln anillin, actin binding protein gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 1561367 Anln anillin, actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:7240710 20170222 OMIM 1561367 Anln anillin, actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 PMID:24676636|PMID:25741868|PMID:28492532|PMID:29869118 1561367 Anln anillin, actin binding protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1320339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1561367 Anln anillin, actin binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1320339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 1561367 Anln anillin, actin binding protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320339 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1561367 Anln anillin, actin binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320339 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561367 Anln anillin, actin binding protein gene DOID:630 genetic disease ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561367 Anln anillin, actin binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1320339 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1561367 Anln anillin, actin binding protein gene DOID:784 chronic kidney disease ISO RGD:1320339 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 1561371 Macroh2a2 macroH2A.2 histone gene DOID:630 genetic disease ISO RGD:1347144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561384 Ccnjl cyclin J-like gene DOID:630 genetic disease ISO RGD:1606241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350922 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:7240710 20190424 OMIM 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 PMID:25741868|PMID:28492532|PMID:30335141 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:12849 autistic disorder ISO RGD:1350922 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:630 genetic disease ISO RGD:1350922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350922 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561385 Slc9a7 solute carrier family 9 member A7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1350922 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 1561386 Cbl Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:11038806|PMID:19571318 20160226 RGD DNA:mutations:cds: 1561386 Cbl Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20694012|PMID:22315502|PMID:26457647 1561386 Cbl Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:7240710 20190315 OMIM 1561386 Cbl Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:16199547|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24728327|PMID:24803665|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25939664|PMID:25952305|PMID:27069254|PMID:27609087|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29296819|PMID:29696744|PMID:31057598|PMID:32933826|PMID:33337535|PMID:9536098 1561386 Cbl Cbl proto-oncogene gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0060578 Noonan syndrome 1 ISO RGD:1345184 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 1561386 Cbl Cbl proto-oncogene gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm ISO RGD:1345184 D RGD:11038804|PMID:22315494 20160226 RGD DNA:mutations:cds: 1561386 Cbl Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1345184 D RGD:11038808|PMID:19387008 20160226 RGD DNA:mutations:exons: 1561386 Cbl Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1558608 D RGD:11038798|PMID:20951944 20160225 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1345184 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy ISO RGD:1345184 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy PMID:24033266|PMID:25741868|PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26847329|PMID:27069254|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31970404|PMID:32933826|PMID:9536098 1561386 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27854218|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 1561386 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 1561386 Cbl Cbl proto-oncogene gene DOID:0110651 long QT syndrome 10 ISO RGD:1345184 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1345184 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0111971 immunodeficiency 18 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0111972 immunodeficiency 19 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:0111973 immunodeficiency 17 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:10907 microcephaly ISO RGD:1345184 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1561386 Cbl Cbl proto-oncogene gene DOID:11383 cryptorchidism ISO RGD:1345184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 1561386 Cbl Cbl proto-oncogene gene DOID:12336 male infertility ISO RGD:1345184 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:16301331 1561386 Cbl Cbl proto-oncogene gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:2156 ovarian germ cell cancer ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian germ cell cancer PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 1561386 Cbl Cbl proto-oncogene gene DOID:224 transient cerebral ischemia treatment IDA D RGD:4108486|PMID:18773943 20170106 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:3247 rhabdomyosarcoma ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:17446348|PMID:20619386|PMID:22246246|PMID:25178484|PMID:25741868|PMID:28492532|PMID:33318624|PMID:33627783 1561386 Cbl Cbl proto-oncogene gene DOID:3347 osteosarcoma ISO RGD:1345184 D RGD:126925238|PMID:22623369 20210518 RGD protein:decreased expression:bone 1561386 Cbl Cbl proto-oncogene gene DOID:3490 Noonan syndrome ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16199547|PMID:18698078|PMID:19571318|PMID:19620960|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20955399|PMID:21901340|PMID:23823657|PMID:24033266|PMID:24458550|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28492532|PMID:28589114 1561386 Cbl Cbl proto-oncogene gene DOID:3529 central core disease ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:19387008|PMID:19620960|PMID:19901108|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23690417|PMID:24033266|PMID:24728327|PMID:25224413|PMID:25741868|PMID:27069254|PMID:27854218|PMID:28492532|PMID:29296819 1561386 Cbl Cbl proto-oncogene gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:11038813|PMID:23143077 20160226 RGD mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: 1561386 Cbl Cbl proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345184 D RGD:11576301|PMID:20126411 20170106 RGD DNA:missense mutations, loss of heterozygosity:multiple (human) 1561386 Cbl Cbl proto-oncogene gene DOID:4195 hyperglycemia IEP D RGD:11576321|PMID:16644676 20170109 RGD mRNA:increased expression:islet of Langerhans (rat) 1561386 Cbl Cbl proto-oncogene gene DOID:5419 schizophrenia ISO RGD:1345184 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561386 Cbl Cbl proto-oncogene gene DOID:6000 congestive heart failure ISO RGD:1345184 D RGD:11251947|PMID:24583314 20170106 RGD protein:increased expression:left ventricle myocardium, muscle cell (human) 1561386 Cbl Cbl proto-oncogene gene DOID:6000 congestive heart failure disease_progression ISO RGD:1345184 D RGD:155630627|PMID:33779075 20221026 RGD DNA:mutations: : 1561386 Cbl Cbl proto-oncogene gene DOID:614 lymphopenia onset ISO RGD:1558608 D RGD:11038797|PMID:20404156 20160225 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:630 genetic disease ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24728327|PMID:24801577|PMID:25224413|PMID:25358541|PMID:25426838|PMID:25741868|PMID:25952305|PMID:26847329|PMID:27069254|PMID:27941868|PMID:28492532|PMID:28589114|PMID:29296819|PMID:31664448|PMID:33550024 1561386 Cbl Cbl proto-oncogene gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345184 D RGD:11536137|PMID:26474280 20210518 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:865 vasculitis ISO RGD:1345184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 1561386 Cbl Cbl proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345184 D RGD:126925223|PMID:31611438 20210517 RGD associated with stomach carcinoma;protein:increased expression:stomach 1561386 Cbl Cbl proto-oncogene gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 1561386 Cbl Cbl proto-oncogene gene DOID:9000941 Elliptocytosis 2 ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE PMID:17446348|PMID:20619386|PMID:22246246|PMID:25178484|PMID:25741868|PMID:28492532|PMID:33318624|PMID:33627783 1561386 Cbl Cbl proto-oncogene gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:126925240|PMID:30021515 20210518 RGD mRNA:increased expression:spinal cord 1561386 Cbl Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345184 D RGD:11038803|PMID:17804547 20160226 RGD mRNA,protein:increased expression:CD5+ B cell: 1561386 Cbl Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1345184 D RGD:11038803|PMID:17804547 20160226 RGD DNA:hypophosphorylation:CD5+ B cell: 1561386 Cbl Cbl proto-oncogene gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:2306289|PMID:16984225 20170109 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:7240710 20130221 OMIM 1561386 Cbl Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25731833|PMID:25741868|PMID:25939664|PMID:25952305|PMID:26580448|PMID:27069254|PMID:27784745|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29296819|PMID:31101757|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33337535|PMID:33550024|PMID:33627783|PMID:9536098 1561386 Cbl Cbl proto-oncogene gene DOID:9003091 Noonan Like Syndrome ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:19620960|PMID:20951944|PMID:24033266|PMID:25741868|PMID:27069254|PMID:28492532|PMID:29296819 1561386 Cbl Cbl proto-oncogene gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345184 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1561386 Cbl Cbl proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345184 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561386 Cbl Cbl proto-oncogene gene DOID:9004441 Experimental Leukemia treatment ISO RGD:1558608 D RGD:11038805|PMID:20890046 20160226 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11038825|PMID:18663086 20160229 RGD protein:hyperphosphorylation:tyrosine: 1561386 Cbl Cbl proto-oncogene gene DOID:9006257 Growth Disorders ISO RGD:1345184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 1561386 Cbl Cbl proto-oncogene gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:19571318|PMID:20543203|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826 1561386 Cbl Cbl proto-oncogene gene DOID:9007096 Stroke ISO RGD:1345184 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 1561386 Cbl Cbl proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:1345184 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1561386 Cbl Cbl proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:1558608 D RGD:11251947|PMID:24583314 20170106 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1345184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 1561386 Cbl Cbl proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1345184 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 1561386 Cbl Cbl proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345184 D RGD:11038796|PMID:22131879 20160225 RGD associated with Myelodysplastic Syndromes;DNA:mutations:exons: 1561386 Cbl Cbl proto-oncogene gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345184 D RGD:126925222|PMID:30029779 20210517 RGD 1561386 Cbl Cbl proto-oncogene gene DOID:9538 multiple myeloma ISO RGD:1345184 D RGD:11038794|PMID:23948411 20160225 RGD mRNA:decreased expression:mononuclear cell: 1561386 Cbl Cbl proto-oncogene gene DOID:9744 type 1 diabetes mellitus IEP D RGD:1598972|PMID:17082646 20170109 RGD mRNA:decreased expression:pancreatic lymph node, mast cell (rat) 1561387 Spata31f3 SPATA31 subfamily F member 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:5487895 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348132 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:7240710 20130221 OMIM 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:17576681|PMID:19377476|PMID:22796527|PMID:24357419|PMID:24811172|PMID:25649377|PMID:25741868|PMID:28492532|PMID:28687527|PMID:29681091|PMID:9536098 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:24811172|PMID:25741868|PMID:28492532|PMID:29681091 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:25741868|PMID:28492532|PMID:29681091 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:12849 autistic disorder ISO RGD:1348132 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:630 genetic disease ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24357419|PMID:28492532 1561389 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348132 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1561390 Lrrc73 leucine rich repeat containing 73 gene DOID:0050444 infantile Refsum disease ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1561390 Lrrc73 leucine rich repeat containing 73 gene DOID:630 genetic disease ISO RGD:1346466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561390 Lrrc73 leucine rich repeat containing 73 gene DOID:905 Zellweger syndrome ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090020 split hand-foot malformation ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY PMID:26755636 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090020 split hand-foot malformation ISS RGD:1616796 D RGD:13592920 20180518 MouseDO 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1601997 D RGD:8554872 20190604 ClinVar ClinVar Annotator: match by term: Split-hand/foot malformation 1 PMID:26755636 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1601997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:7240710 20190315 OMIM 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion PMID:16760198|PMID:25741868|PMID:27816943|PMID:28492532 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:630 genetic disease ISO RGD:1601997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:7240710 20190315 OMIM 1561394 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly PMID:25741868|PMID:26755636|PMID:28492532 1561398 Defal1 defensin alpha-like 1 gene DOID:9002928 Colonic Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 1561402 Samd12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:7240710 20190315 OMIM 1561402 Samd12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 1561402 Samd12 sterile alpha motif domain containing 12 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344782 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1561402 Samd12 sterile alpha motif domain containing 12 gene DOID:206 hereditary multiple exostoses ISO RGD:1344782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 1561402 Samd12 sterile alpha motif domain containing 12 gene DOID:630 genetic disease ISO RGD:1344782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561402 Samd12 sterile alpha motif domain containing 12 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1344782 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 1561412 Or4q3 olfactory receptor family 4 subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:1344620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561415 C19h16orf86 similar to human chromosome 16 open reading frame 86 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604692 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1561415 C19h16orf86 similar to human chromosome 16 open reading frame 86 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1561415 C19h16orf86 similar to human chromosome 16 open reading frame 86 gene DOID:630 genetic disease ISO RGD:1604692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561416 Hyi hydroxypyruvate isomerase gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1601737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:25741868 1561416 Hyi hydroxypyruvate isomerase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601737 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1561416 Hyi hydroxypyruvate isomerase gene DOID:630 genetic disease ISO RGD:1601737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561419 Arhgap30 Rho GTPase activating protein 30 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1561419 Arhgap30 Rho GTPase activating protein 30 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604190 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1561419 Arhgap30 Rho GTPase activating protein 30 gene DOID:1540 parathyroid carcinoma ISO RGD:1604190 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561419 Arhgap30 Rho GTPase activating protein 30 gene DOID:630 genetic disease ISO RGD:1604190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561419 Arhgap30 Rho GTPase activating protein 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604190 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561419 Arhgap30 Rho GTPase activating protein 30 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604190 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561420 Il27 interleukin 27 gene DOID:0060496 respiratory allergy ISO RGD:1615620 D RGD:4145651|PMID:20817868 20110304 RGD 1561420 Il27 interleukin 27 gene DOID:10303 sialadenitis exacerbates ISO RGD:1615620 D RGD:126790516|PMID:32307922 20210423 RGD mRNA:increased expression:saliva-secreting gland (mouse) 1561420 Il27 interleukin 27 gene DOID:106 pleural tuberculosis ISO RGD:1343577 D RGD:126790505|PMID:25753767 20210423 RGD associated with Pleural Effusion;protein:increased expression:pleural fluid (human) 1561420 Il27 interleukin 27 gene DOID:106 pleural tuberculosis ISO RGD:1343577 D RGD:126790517|PMID:28844060 20210426 RGD associated with Pleural Effusion;protein:increased expression:pleural fluid (human) 1561420 Il27 interleukin 27 gene DOID:106 pleural tuberculosis ISO RGD:1343577 D RGD:126790523|PMID:23962500 20210426 RGD associated with Pleural Effusion;protein:increased expression:pleural fluid (human) 1561420 Il27 interleukin 27 gene DOID:106 pleural tuberculosis exacerbates ISO RGD:1343577 D RGD:126790549|PMID:31819557 20210426 RGD protein:increased expression:alveolar system (human) 1561420 Il27 interleukin 27 gene DOID:10887 lepromatous leprosy ameliorates ISO RGD:1343577 D RGD:126790539|PMID:26030183 20210426 RGD mRNA:decreased expression:skin of body (human) 1561420 Il27 interleukin 27 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1343577 D RGD:126790550|PMID:33280050 20210426 RGD mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" 1561420 Il27 interleukin 27 gene DOID:1123 spondyloarthropathy ISO RGD:1615620 D RGD:14995936|PMID:29494633 20191101 RGD 1561420 Il27 interleukin 27 gene DOID:12365 malaria ISO RGD:1615620 D RGD:126790512|PMID:24522137 20210423 RGD 1561420 Il27 interleukin 27 gene DOID:12365 malaria ameliorates ISO RGD:1615620 D RGD:11530371|PMID:26968425 20210426 RGD 1561420 Il27 interleukin 27 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1615620 D RGD:126790525|PMID:22301139 20210426 RGD 1561420 Il27 interleukin 27 gene DOID:14115 toxic shock syndrome ISO RGD:1615620 D RGD:126790535|PMID:20435892 20210426 RGD protein, mRNA:increased expression:blood serum, spleen (mouse) 1561420 Il27 interleukin 27 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343577 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1561420 Il27 interleukin 27 gene DOID:1724 duodenal ulcer ISO RGD:1343577 D RGD:126790551|PMID:31702083 20210426 RGD associated with Helicobacter Infections;protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1615620 D RGD:39456136|PMID:23729211 20210423 RGD 1561420 Il27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:126790497|PMID:26925776 20210423 RGD mRNA:increased expression:blood plasma (human) 1561420 Il27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:126790543|PMID:22766719 20210426 RGD protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:2043 hepatitis B exacerbates ISO RGD:1343577 D RGD:39128258|PMID:19081304 20210423 RGD protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:2841 asthma ISO RGD:1343577 D RGD:4145651|PMID:20817868 20110304 RGD protein:increased expression:sputum 1561420 Il27 interleukin 27 gene DOID:2841 asthma ISO RGD:1615620 D RGD:5128479|PMID:19542437 20110304 RGD 1561420 Il27 interleukin 27 gene DOID:2841 asthma ISO RGD:1615620 D RGD:5128491|PMID:17878337 20110304 RGD 1561420 Il27 interleukin 27 gene DOID:2841 asthma susceptibility ISO RGD:1343577 D RGD:5128485|PMID:17318299 20110304 RGD DNA:SNP: :g.-964A>G (human) 1561420 Il27 interleukin 27 gene DOID:2841 asthma treatment ISO RGD:1615620 D RGD:11076728|PMID:26595888 20210423 RGD 1561420 Il27 interleukin 27 gene DOID:2957 pulmonary tuberculosis ISO RGD:1343577 D RGD:39456132|PMID:30948177 20210426 RGD DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human) 1561420 Il27 interleukin 27 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1343577 D RGD:126790508|PMID:31949807 20210423 RGD DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) 1561420 Il27 interleukin 27 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343577 D RGD:5128484|PMID:18554158 20110304 RGD DNA:polymorphisms: :-964A>G, 2905T>G (human) 1561420 Il27 interleukin 27 gene DOID:321 tropical spastic paraparesis ISO RGD:1343577 D RGD:126790519|PMID:24041428 20210426 RGD associated with HTLV-I Infections;mRNA:decreased expression:blood (human) 1561420 Il27 interleukin 27 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1615620 D RGD:126790521|PMID:29593047 20210426 RGD mRNA, protein:increased expression:spleen (mouse) 1561420 Il27 interleukin 27 gene DOID:399 tuberculosis ISO RGD:1343577 D RGD:126790514|PMID:25511588 20210423 RGD associated with Pleural Effusion;protein:increased expression:pleural effusion (human) 1561420 Il27 interleukin 27 gene DOID:399 tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood (human) PMID:26282876|REF_RGD_ID:11086047 1561420 Il27 interleukin 27 gene DOID:418 systemic scleroderma ISO RGD:1343577 D RGD:5128477|PMID:20705635 20110304 RGD protein:increased expression:serum 1561420 Il27 interleukin 27 gene DOID:5082 liver cirrhosis ISO RGD:1343577 D RGD:126790507|PMID:22230324 20210423 RGD associated with hepatitis B;protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343577 D RGD:126790553|PMID:24816922 20210426 RGD associated with hepatitis C;protein:increased expression:blood plasma (human) 1561420 Il27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ameliorates ISO RGD:1343577 D RGD:126790518|PMID:28338007 20210426 RGD protein:increased expression:blood plasma (human) 1561420 Il27 interleukin 27 gene DOID:5419 schizophrenia ISO RGD:1343577 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561420 Il27 interleukin 27 gene DOID:552 pneumonia ISO RGD:1615620 D RGD:5128483|PMID:19124731 20110304 RGD 1561420 Il27 interleukin 27 gene DOID:630 genetic disease ISO RGD:1343577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561420 Il27 interleukin 27 gene DOID:750 peptic ulcer disease ISO RGD:1343577 D RGD:126790506|PMID:21791025 20210423 RGD associated with Helicobacter infections;protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:8515 Cor pulmonale disease_progression ISO RGD:1343577 D RGD:126790503|PMID:27403033 20210423 RGD associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human) 1561420 Il27 interleukin 27 gene DOID:8568 infectious mononucleosis ISO RGD:1343577 D RGD:126790542|PMID:33571934 20210426 RGD protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1343577 D RGD:126790526|PMID:23890319 20210426 RGD associated with hepatitis B;protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1343577 D RGD:126790529|PMID:31198792 20210426 RGD associated with hepatitis B;protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:9000371 influenza A ISO RGD:1343577 D RGD:126790513|PMID:22343630 20210423 RGD protein:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1615620 D RGD:126790546|PMID:26578236 20210426 RGD 1561420 Il27 interleukin 27 gene DOID:9000989 Pneumococcal Infections ISO RGD:1615620 D RGD:11556418|PMID:24408967 20210426 RGD associated with influenza A;protein:increased expression:lung (mouse) 1561420 Il27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1343577 D RGD:126790543|PMID:22766719 20210505 RGD protien:increased expression:blood serum (human) 1561420 Il27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1615620 D RGD:126790524|PMID:31818960 20210426 RGD protein:increased expression:blood serum (mouse) 1561420 Il27 interleukin 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343577 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21801027|PMID:24028178 1561420 Il27 interleukin 27 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1615620 D RGD:126790527|PMID:33403844 20210426 RGD protein:decreased expression:blood serum (mouse) 1561420 Il27 interleukin 27 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1343577 D RGD:126790538|PMID:27221901 20210426 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) 1561420 Il27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1343577 D RGD:126790544|PMID:18227999 20210426 RGD mRNA:increased expression:blood, leukocyte (human) 1561420 Il27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1615620 D RGD:126790537|PMID:20493722 20210426 RGD associated with Herpesviridae Infections;protein:increased expression:blood serum, spleen (mouse) 1561420 Il27 interleukin 27 gene DOID:9004484 Sepsis disease_progression ISO RGD:1343577 D RGD:126790509|PMID:30268141 20210423 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) 1561420 Il27 interleukin 27 gene DOID:9004484 Sepsis exacerbates ISO RGD:1343577 D RGD:126790502|PMID:22965735 20210423 RGD protein:increased expression:blood (human) 1561420 Il27 interleukin 27 gene DOID:9004484 Sepsis severity ISO RGD:1615620 D RGD:126790536|PMID:26767500 20210426 RGD 1561420 Il27 interleukin 27 gene DOID:9004945 Ocular Toxoplasmosis disease_progression ISO RGD:1615620 D RGD:126790500|PMID:29779048 20210423 RGD mRNA:increased expression:eye, cervical lymph node (mouse) 1561420 Il27 interleukin 27 gene DOID:9005036 Bacteremia ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:26514771|REF_RGD_ID:126790515 1561420 Il27 interleukin 27 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615620 D RGD:126790498|PMID:27926930 20210423 RGD protein:increased expression:spleen, saliva-secreting gland (mouse) 1561420 Il27 interleukin 27 gene DOID:9006732 Clostridium Infections ISO RGD:1343577 D RGD:126790495|PMID:29140433 20210423 RGD associated with diarrhea;protein:increased expression:blood��serum, feces (human) 1561420 Il27 interleukin 27 gene DOID:9007367 Septic Peritonitis exacerbates ISO RGD:1615620 D RGD:126790504|PMID:16880260 20210423 RGD 1561420 Il27 interleukin 27 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:1615620 D RGD:126790541|PMID:25074706 20210426 RGD associated with Sepsis 1561420 Il27 interleukin 27 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1615620 D RGD:126790552|PMID:25466588 20210426 RGD 1561420 Il27 interleukin 27 gene DOID:9146 visceral leishmaniasis ISO RGD:1615620 D RGD:126790520|PMID:27245409 20210426 RGD mRNA, protein:increased expression:spleen, liver (mouse) 1561420 Il27 interleukin 27 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 1561420 Il27 interleukin 27 gene DOID:9965 toxoplasmosis ISO RGD:1615620 D RGD:126790522|PMID:22981537 20210426 RGD 1561420 Il27 interleukin 27 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:1615620 D RGD:126790501|PMID:31548322 20210423 RGD 1561421 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0050545 visceral heterotaxy ISS RGD:1618278 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1561421 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1561421 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:14679 VACTERL association ISS RGD:1618278 D RGD:13592920 20180518 MouseDO OMIM:192350 | OMIM:276950 1561421 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:630 genetic disease ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561422 Ascc2 activating signal cointegrator 1 complex subunit 2 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1347917 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1561422 Ascc2 activating signal cointegrator 1 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1347917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561422 Ascc2 activating signal cointegrator 1 complex subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347917 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 1561424 Ccdc68 coiled-coil domain containing 68 gene DOID:1059 intellectual disability ISO RGD:1601959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561424 Ccdc68 coiled-coil domain containing 68 gene DOID:630 genetic disease ISO RGD:1601959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561424 Ccdc68 coiled-coil domain containing 68 gene DOID:9007479 Habitual Abortions ISO RGD:1601959 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 1561425 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606433 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1561425 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:14701 propionic acidemia ISO RGD:1606433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1561425 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:630 genetic disease ISO RGD:1606433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561425 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606433 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1561425 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1606433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 1561426 Lactbl1 lactamase beta like 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:3077861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1561431 Hoxa3 homeobox A3 gene DOID:11198 DiGeorge syndrome ISS RGD:1557652 D RGD:13592920 20180518 MouseDO OMIM:188400 1561431 Hoxa3 homeobox A3 gene DOID:1682 congenital heart disease ISO RGD:1344896 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 1561431 Hoxa3 homeobox A3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344896 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561431 Hoxa3 homeobox A3 gene DOID:630 genetic disease ISO RGD:1344896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561431 Hoxa3 homeobox A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344896 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561431 Hoxa3 homeobox A3 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:1344896 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 1561431 Hoxa3 homeobox A3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1344896 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 1561436 Daw1 dynein assembly factor with WD repeats 1 gene DOID:0050144 Kartagener syndrome ISS RGD:1615857 D RGD:13592920 20180518 MouseDO 1561436 Daw1 dynein assembly factor with WD repeats 1 gene DOID:0050545 visceral heterotaxy ISS RGD:1615857 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1561436 Daw1 dynein assembly factor with WD repeats 1 gene DOID:630 genetic disease ISO RGD:1602062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561436 Daw1 dynein assembly factor with WD repeats 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 1561436 Daw1 dynein assembly factor with WD repeats 1 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1615857 D RGD:13592920 20180518 MouseDO 1561444 Matcap2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 1561444 Matcap2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603687 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561444 Matcap2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1603687 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561445 RGD1561445 similar to novel protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301934 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561445 RGD1561445 similar to novel protein gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:2301934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1561445 RGD1561445 similar to novel protein gene DOID:12849 autistic disorder ISO RGD:2301934 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561445 RGD1561445 similar to novel protein gene DOID:630 genetic disease ISO RGD:2301934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561447 Manbal mannosidase beta like gene DOID:2234 focal epilepsy ISO RGD:1353788 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1561447 Manbal mannosidase beta like gene DOID:630 genetic disease ISO RGD:1353788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561447 Manbal mannosidase beta like gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1353788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 1561451 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1561451 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1342997 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1561451 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:1826 epilepsy ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1561451 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1561451 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1561451 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:630 genetic disease ISO RGD:1342997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561456 Fancf FA complementation group F gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345063 D RGD:11049143|PMID:17409780 20160405 RGD mRNA:decreased expression:tongue: 1561456 Fancf FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:7240710 20130425 OMIM 1561456 Fancf FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group F PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31288759|PMID:31882575|PMID:34117267|PMID:9382107 1561456 Fancf FA complementation group F gene DOID:1059 intellectual disability ISO RGD:1345063 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561456 Fancf FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:16084127|PMID:16774934|PMID:17924555|PMID:18271933|PMID:24728327|PMID:25741868|PMID:27714961|PMID:28259476|PMID:28492532|PMID:30256826|PMID:30262796|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 1561456 Fancf FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 1561456 Fancf FA complementation group F gene DOID:14566 disease of cellular proliferation susceptibility ISO RGD:2290337 D RGD:11049141|PMID:21915857 20160405 RGD 1561456 Fancf FA complementation group F gene DOID:1612 breast cancer ISO RGD:1345063 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 1561456 Fancf FA complementation group F gene DOID:2394 ovarian cancer ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 1561456 Fancf FA complementation group F gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:1345063 D RGD:2298508|PMID:15574200 20080703 RGD DNA:hypermethylation:promoter 1561456 Fancf FA complementation group F gene DOID:2999 granulosa cell tumor susceptibility ISO RGD:2290337 D RGD:11049141|PMID:21915857 20160405 RGD 1561456 Fancf FA complementation group F gene DOID:4943 adenocarcinoma in situ disease_progression ISO RGD:1345063 D RGD:11049137|PMID:14647419 20160404 RGD DNA:hypermethylation:promoter: 1561456 Fancf FA complementation group F gene DOID:5426 primary ovarian insufficiency ISS RGD:2290337 D RGD:13592920 20180518 MouseDO OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 1561456 Fancf FA complementation group F gene DOID:630 genetic disease ISO RGD:1345063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561456 Fancf FA complementation group F gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345063 D RGD:2290044|PMID:16418574 20080225 RGD DNA, mRNA, protein:hypermethylation, decreased expression:ovary 1561456 Fancf FA complementation group F gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1345063 D RGD:2298507|PMID:18414472 20080703 RGD DNA:hypermethylation:promoter 1561456 Fancf FA complementation group F gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1345063 D RGD:2290045|PMID:15126331 20080225 RGD DNA:hypermethylation:promoter 1561457 Actrt3 actin-related protein T3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1607001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1561457 Actrt3 actin-related protein T3 gene DOID:1062 Fanconi syndrome ISO RGD:1607001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1561457 Actrt3 actin-related protein T3 gene DOID:630 genetic disease ISO RGD:1607001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561459 Aamdc adipogenesis associated, Mth938 domain containing gene DOID:1059 intellectual disability ISO RGD:1603054 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561459 Aamdc adipogenesis associated, Mth938 domain containing gene DOID:630 genetic disease ISO RGD:1603054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561461 Lrrc43 leucine rich repeat containing 43 gene DOID:0080600 COVID-19 ISO RGD:1602639 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561461 Lrrc43 leucine rich repeat containing 43 gene DOID:630 genetic disease ISO RGD:1602639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561462 Glb1l3 galactosidase, beta 1-like 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603928 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1561462 Glb1l3 galactosidase, beta 1-like 3 gene DOID:5419 schizophrenia ISO RGD:1603928 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561462 Glb1l3 galactosidase, beta 1-like 3 gene DOID:630 genetic disease ISO RGD:1603928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561462 Glb1l3 galactosidase, beta 1-like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603928 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:1115 sarcoma susceptibility ISO RGD:1557158 D RGD:11552595|PMID:21901109 20161012 RGD 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:1969 cerebral palsy ISO RGD:1605345 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:3192 neurilemmoma ISO RGD:1605345 D RGD:11552594|PMID:20844836 20161012 RGD mRNA:increased expression:neural tissue (human) 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:4001 ovarian carcinoma ISO RGD:1605345 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:630 genetic disease ISO RGD:1605345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605345 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1561464 Atad5 ATPase family, AAA domain containing 5 gene DOID:9008582 Developmental Disease susceptibility ISO RGD:1557158 D RGD:11552595|PMID:21901109 20161012 RGD 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1557900 D RGD:39938986|PMID:16134084 20201017 RGD 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:1603701 D RGD:39938981|PMID:24874302 20201019 RGD DNA:repeats:exon 4: allele 6, allele 9 (human) 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:0080490 mucolipidosis type IV ISO RGD:1603701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1603701 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:1412 bacteriuria ISO RGD:1557900 D RGD:41410804|PMID:31998663 20210215 RGD associated with Escherichia Coli Infections 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2945 severe acute respiratory syndrome no_association ISO RGD:1603701 D RGD:36049806|PMID:17534354 20200721 RGD DNA:repeats:exon 4: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2945 severe acute respiratory syndrome no_association ISO RGD:1603701 D RGD:36049807|PMID:17534355 20200721 RGD DNA:repeats:exon 4: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1603701 D RGD:35673327|PMID:16369534 20200721 RGD DNA:repeats:exon 4: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1603701 D RGD:36049808|PMID:18708672 20200721 RGD DNA:repeats:exon 4: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2957 pulmonary tuberculosis ISO RGD:1557900 D RGD:39938983|PMID:19770268 20201016 RGD 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2957 pulmonary tuberculosis ISO RGD:1557900 D RGD:39938987|PMID:17224292 20201017 RGD 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1603701 D RGD:39938981|PMID:24874302 20201019 RGD DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:630 genetic disease ISO RGD:1603701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:684 hepatocellular carcinoma ISO RGD:1603701 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9003284 HIV Seropositivity ISO RGD:1603701 D RGD:11520989|PMID:25656622 20201016 RGD DNA:repeats:exon 4 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1603701 D RGD:39938979|PMID:16453266 20201018 RGD DNA:repeats: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1603701 D RGD:39938989|PMID:20217198 20210216 RGD DNA:repeat: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1603701 D RGD:41410818|PMID:24283933 20210216 RGD DNA:polymorphism,repeats:exon4: allele 4 (human) 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9004702 Pregnancy Complications susceptibility IAGP D RGD:39938980|PMID:22338216 20210215 RGD associated with hepatitis B; DNA:: 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1557900 D RGD:39938988|PMID:18981244 20201017 RGD 1561466 Clec4m C-type lectin domain family 4 member M gene DOID:9007367 Septic Peritonitis susceptibility ISO RGD:1557900 D RGD:39939009|PMID:15583012 20201104 RGD 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:7240710 20140911 OMIM 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus PMID:17576681|PMID:23849777|PMID:27790702|PMID:28492532|PMID:34906502|PMID:9536098 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:10584 retinitis pigmentosa ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23849777|PMID:27790702 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:12336 male infertility ISS RGD:1616652 D RGD:13592920 20191128 MouseDO 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:630 genetic disease ISO RGD:1344137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561471 Arl2bp ADP-ribosylation factor like GTPase 2 binding protein gene DOID:8501 fundus dystrophy ISO RGD:1344137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:27790702|PMID:28041643|PMID:28492532|PMID:30210231|PMID:32581362 1561474 Osbpl8 oxysterol binding protein-like 8 gene DOID:630 genetic disease ISO RGD:1348483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561474 Osbpl8 oxysterol binding protein-like 8 gene DOID:9004657 Weight Gain ISO RGD:1348483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1561482 Fam107b family with sequence similarity 107, member B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346416 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1561482 Fam107b family with sequence similarity 107, member B gene DOID:630 genetic disease ISO RGD:1346416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561486 Cep70 centrosomal protein 70 gene DOID:0050567 orofacial cleft ISO RGD:1601960 D RGD:8554872 20201215 ClinVar ClinVar Annotator: match by term: Median cleft lip and palate PMID:19254375|PMID:25741868|PMID:31680349 1561486 Cep70 centrosomal protein 70 gene DOID:630 genetic disease ISO RGD:1601960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561488 Dnajc25 DnaJ heat shock protein family (Hsp40) member C25 gene DOID:630 genetic disease ISO RGD:1603327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561490 Ap1m2 adaptor related protein complex 1 subunit mu 2 gene DOID:630 genetic disease ISO RGD:1354372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561492 Tmem141 transmembrane protein 141 gene DOID:0050777 Joubert syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1561492 Tmem141 transmembrane protein 141 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:0081097 Rafiq syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1561492 Tmem141 transmembrane protein 141 gene DOID:3652 Leigh disease ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1561492 Tmem141 transmembrane protein 141 gene DOID:630 genetic disease ISO RGD:1602669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561492 Tmem141 transmembrane protein 141 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1561494 Wdr54 WD repeat domain 54 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1561494 Wdr54 WD repeat domain 54 gene DOID:543 dystonia ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561494 Wdr54 WD repeat domain 54 gene DOID:630 genetic disease ISO RGD:1347717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561494 Wdr54 WD repeat domain 54 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561496 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1353394 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561496 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:630 genetic disease ISO RGD:1353394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561496 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:7240710 20210908 OMIM 1561496 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v PMID:25741868|PMID:34143952 1561496 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9007661 Dwarfism ISO RGD:1353394 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1561496 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353394 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561499 Lrrc31 leucine rich repeat containing 31 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1346329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1561499 Lrrc31 leucine rich repeat containing 31 gene DOID:1062 Fanconi syndrome ISO RGD:1346329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1561499 Lrrc31 leucine rich repeat containing 31 gene DOID:630 genetic disease ISO RGD:1346329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561500 Spryd3 SPRY domain containing 3 gene DOID:630 genetic disease ISO RGD:1602855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561501 Afg1l AFG1 like ATPase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1561501 Afg1l AFG1 like ATPase gene DOID:630 genetic disease ISO RGD:1349497 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561503 Ccdc152 coiled-coil domain containing 152 gene DOID:630 genetic disease ISO RGD:2298815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561503 Ccdc152 coiled-coil domain containing 152 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298815 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561506 Tmem170b transmembrane protein 170B gene DOID:630 genetic disease ISO RGD:2293893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561507 Spata33 spermatogenesis associated 33 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1561507 Spata33 spermatogenesis associated 33 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1561507 Spata33 spermatogenesis associated 33 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1602656 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 1561507 Spata33 spermatogenesis associated 33 gene DOID:13636 Fanconi anemia ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1561507 Spata33 spermatogenesis associated 33 gene DOID:14780 KBG syndrome ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1561507 Spata33 spermatogenesis associated 33 gene DOID:630 genetic disease ISO RGD:1602656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602965 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602965 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1602965 D RGD:7240710 20130221 OMIM 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1602965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:17211611|PMID:18794526|PMID:18953341|PMID:21739586|PMID:22908982|PMID:23053991|PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532|PMID:32747562 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:1059 intellectual disability ISO RGD:1602965 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:630 genetic disease ISO RGD:1602965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1561509 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing gene DOID:9004538 Hearing Loss ISO RGD:1602965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:26467025|PMID:27260575|PMID:28492532|PMID:30311386 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603361 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603361 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 1561510 Dgkk diacylglycerol kinase kappa gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1561510 Dgkk diacylglycerol kinase kappa gene DOID:10892 hypospadias ISO RGD:1603361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21113153|PMID:27098078 1561510 Dgkk diacylglycerol kinase kappa gene DOID:12849 autistic disorder ISO RGD:1603361 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561510 Dgkk diacylglycerol kinase kappa gene DOID:630 genetic disease ISO RGD:1603361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561512 Atoh8 atonal bHLH transcription factor 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1561512 Atoh8 atonal bHLH transcription factor 8 gene DOID:630 genetic disease ISO RGD:1350083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561512 Atoh8 atonal bHLH transcription factor 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1561517 C3h20orf144 similar to human chromosome 20 open reading frame 144 gene DOID:2843 long QT syndrome ISO RGD:1348206 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1561517 C3h20orf144 similar to human chromosome 20 open reading frame 144 gene DOID:630 genetic disease ISO RGD:1348206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561518 Ttc22 tetratricopeptide repeat domain 22 gene DOID:630 genetic disease ISO RGD:1605998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561519 Tnfsf13b TNF superfamily member 13b gene DOID:0080600 COVID-19 ISO RGD:1345205 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1561519 Tnfsf13b TNF superfamily member 13b gene DOID:12894 Sjogren's syndrome ISS RGD:1557043 D RGD:13592920 20180518 MouseDO OMIM:270150 1561519 Tnfsf13b TNF superfamily member 13b gene DOID:2986 IgA glomerulonephritis ISS RGD:1557043 D RGD:13592920 20180518 MouseDO OMIM:161950 | OMIM:616818 1561519 Tnfsf13b TNF superfamily member 13b gene DOID:630 genetic disease ISO RGD:1345205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561519 Tnfsf13b TNF superfamily member 13b gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345205 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1561519 Tnfsf13b TNF superfamily member 13b gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1345205 D RGD:27095888|PMID:30660173 20200515 RGD 1561521 Dmkn dermokine gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1561521 Dmkn dermokine gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1561521 Dmkn dermokine gene DOID:543 dystonia ISO RGD:1605012 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1561521 Dmkn dermokine gene DOID:630 genetic disease ISO RGD:1605012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561523 Gbp6 guanylate binding protein family member 6 gene DOID:630 genetic disease ISO RGD:1354251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561526 Zfp512 zinc finger protein 512 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1561526 Zfp512 zinc finger protein 512 gene DOID:630 genetic disease ISO RGD:1349628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561529 Cdx4 caudal type homeo box 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351181 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561529 Cdx4 caudal type homeo box 4 gene DOID:12849 autistic disorder ISO RGD:1351181 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561529 Cdx4 caudal type homeo box 4 gene DOID:630 genetic disease ISO RGD:1351181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561530 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1343822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561530 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343822 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561530 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:7240710 20190315 OMIM 1561530 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 PMID:25741868|PMID:26537248|PMID:36271123 1561536 Cct8l2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:630 genetic disease ISO RGD:1605278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561536 Cct8l2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605278 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:1059 intellectual disability ISO RGD:1606875 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:12450 pancytopenia ISO RGD:1606875 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:29987015 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606875 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30879219 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:4961 bone marrow disease ISO RGD:1606875 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:29987015 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:630 genetic disease ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1606875 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:7240710 20140911 OMIM 1561537 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 2 PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29633571|PMID:29987015 1561538 Slfn14 schlafen family member 14 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1602272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 1561538 Slfn14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:7240710 20201125 OMIM 1561538 Slfn14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 PMID:25741868|PMID:26280575|PMID:26769223|PMID:28492532|PMID:29678925|PMID:32581362 1561538 Slfn14 schlafen family member 14 gene DOID:2213 hemorrhagic disease ISO RGD:1602272 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:26280575|PMID:32581362 1561538 Slfn14 schlafen family member 14 gene DOID:630 genetic disease ISO RGD:1602272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26280575|PMID:28492532|PMID:29678925 1561539 Dlx6 distal-less homeobox 6 gene DOID:0090021 split hand-foot malformation 1 ISS RGD:1557991 D RGD:13592920 20180518 MouseDO OMIM:183600 1561539 Dlx6 distal-less homeobox 6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:12322400 D RGD:9068941 20230511 OMIA Cleft palate 1, DLX6-related PMID:24699068|PMID:28738009|PMID:28887848|PMID:34838248 1561539 Dlx6 distal-less homeobox 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347834 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561539 Dlx6 distal-less homeobox 6 gene DOID:630 genetic disease ISO RGD:1347834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561539 Dlx6 distal-less homeobox 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14666512 1561541 Prr11 proline rich 11 gene DOID:0050436 mulibrey nanism ISO RGD:1601861 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 1561541 Prr11 proline rich 11 gene DOID:0050777 Joubert syndrome ISO RGD:1601861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1561541 Prr11 proline rich 11 gene DOID:0080600 COVID-19 ISO RGD:1601861 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561541 Prr11 proline rich 11 gene DOID:630 genetic disease ISO RGD:1601861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561544 Tmem81 transmembrane protein 81 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1561544 Tmem81 transmembrane protein 81 gene DOID:12849 autistic disorder ISO RGD:1606867 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561544 Tmem81 transmembrane protein 81 gene DOID:1540 parathyroid carcinoma ISO RGD:1606867 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561544 Tmem81 transmembrane protein 81 gene DOID:630 genetic disease ISO RGD:1606867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561544 Tmem81 transmembrane protein 81 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1561544 Tmem81 transmembrane protein 81 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606867 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561554 Frmd5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:7240710 20221102 OMIM 1561554 Frmd5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia PMID:25741868|PMID:36206744 1561554 Frmd5 FERM domain containing 5 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605911 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 1561554 Frmd5 FERM domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1605911 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561554 Frmd5 FERM domain containing 5 gene DOID:630 genetic disease ISO RGD:1605911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561554 Frmd5 FERM domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1605911 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1561555 Fancb FA complementation group B gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1351449 D RGD:11049143|PMID:17409780 20160707 RGD 1561555 Fancb FA complementation group B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1351449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1561555 Fancb FA complementation group B gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1351449 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Fanconi anemia, group A PMID:25741868|PMID:28492532 1561555 Fancb FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:7240710 20130425 OMIM 1561555 Fancb FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565|PMID:8368240 1561555 Fancb FA complementation group B gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1351449 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:24033266|PMID:25741868|PMID:28492532 1561555 Fancb FA complementation group B gene DOID:0111766 X-linked VACTERL association ISO RGD:1351449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1561555 Fancb FA complementation group B gene DOID:0111766 X-linked VACTERL association ISO RGD:1351449 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565 1561555 Fancb FA complementation group B gene DOID:12849 autistic disorder ISO RGD:1351449 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561555 Fancb FA complementation group B gene DOID:13636 Fanconi anemia ISO RGD:1351449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32410215|PMID:32546565|PMID:9536098 1561555 Fancb FA complementation group B gene DOID:1612 breast cancer ISO RGD:1351449 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 1561555 Fancb FA complementation group B gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351449 D RGD:11344903|PMID:20332657 20160707 RGD DNA:hypermethylation:promoter 1561555 Fancb FA complementation group B gene DOID:630 genetic disease ISO RGD:1351449 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561555 Fancb FA complementation group B gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:1351449 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:28588452 1561555 Fancb FA complementation group B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351449 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1604370 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:1790 malignant mesothelioma ISO RGD:1604370 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:630 genetic disease ISO RGD:1604370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:7240710 20211201 OMIM 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility PMID:33139725 1561559 Cfap45 cilia and flagella associated protein 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604370 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:0060356 Vici syndrome ISO RGD:1352833 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:1059 intellectual disability ISO RGD:1352833 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:1826 epilepsy ISO RGD:1352833 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:29358611 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352833 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1352833 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352833 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:16972080|PMID:17576681|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742|PMID:31264968|PMID:9536098 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:7240710 20230505 OMIM 1561565 Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 PMID:16972080|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742 1561569 Tmem69 transmembrane protein 69 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1561569 Tmem69 transmembrane protein 69 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605680 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1561569 Tmem69 transmembrane protein 69 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1561569 Tmem69 transmembrane protein 69 gene DOID:13938 amenorrhea ISO RGD:1605680 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1561569 Tmem69 transmembrane protein 69 gene DOID:630 genetic disease ISO RGD:1605680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561571 Nckap5l NCK-associated protein 5-like gene DOID:630 genetic disease ISO RGD:1605652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561576 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:2717 Bloom syndrome ISO RGD:1345411 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561576 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:630 genetic disease ISO RGD:1345411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561576 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:7240710 20220518 OMIM 1561576 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 PMID:32737136|PMID:33853651 1561576 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:9256 colorectal cancer ISO RGD:1345411 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561579 Zfp646 zinc finger protein 646 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1351485 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1561579 Zfp646 zinc finger protein 646 gene DOID:630 genetic disease ISO RGD:1351485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1603953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0070032 autosomal dominant intellectual developmental disorder 2 ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2 PMID:28492532 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603953 D RGD:11554173 20190305 CTD CTD Direct Evidence: marker/mechanism 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:9536098 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:40907054|PMID:21763205 20210112 RGD DNA:mutation:cds: 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:7240710 20190227 OMIM 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:9536098 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603953 D RGD:40886273|PMID:29058101 20201203 RGD DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:1603953 D RGD:40886274|PMID:25724123 20201203 RGD DNA:mutations: : 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:1059 intellectual disability ISO RGD:1603953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18060736 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:1059 intellectual disability ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:29867916|PMID:31596517|PMID:31980526 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:2043 hepatitis B disease_progression ISO RGD:1603953 D RGD:40903057|PMID:32297155 20210107 RGD DNA:SNP::rs506121(human) 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:3310 atopic dermatitis ISO RGD:1603953 D RGD:40903056|PMID:22476911 20210107 RGD DNA:mutations:cds: 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:5419 schizophrenia ISO RGD:1603953 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:31980526 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1603953 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:627 severe combined immunodeficiency ISO RGD:1603953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:27891178|PMID:28492532|PMID:29930340|PMID:30697212|PMID:31980526|PMID:32888943 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:630 genetic disease ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:687 hepatoblastoma ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:769 neuroblastoma ISO RGD:1603953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:8566 herpes simplex severity ISO RGD:1317066 D RGD:11055046|PMID:25776845 20210107 RGD 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:9002801 Recurrence ISO RGD:1603953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603953 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:9007356 Eczema ISO RGD:1603953 D RGD:40902960|PMID:22534316 20201217 RGD DNA:mutations: : 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1603953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18060736 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:934 viral infectious disease susceptibility ISO RGD:1603953 D RGD:40886274|PMID:25724123 20201203 RGD DNA:mutations: : 1561588 Dock8 dedicator of cytokinesis 8 gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:11532657|PMID:26363782 20181206 RGD 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606197 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606197 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606197 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606197 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:12849 autistic disorder ISO RGD:1606197 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:630 genetic disease ISO RGD:1606197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561596 Ccdc120 coiled-coil domain containing 120 gene DOID:9007661 Dwarfism ISO RGD:1606197 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1561597 Mga MAX dimerization protein MGA gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1561597 Mga MAX dimerization protein MGA gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 1561597 Mga MAX dimerization protein MGA gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1351170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 1561597 Mga MAX dimerization protein MGA gene DOID:2717 Bloom syndrome ISO RGD:1351170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561597 Mga MAX dimerization protein MGA gene DOID:630 genetic disease ISO RGD:1351170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561597 Mga MAX dimerization protein MGA gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351170 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1561597 Mga MAX dimerization protein MGA gene DOID:9256 colorectal cancer ISO RGD:1351170 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561597 Mga MAX dimerization protein MGA gene DOID:9538 multiple myeloma ISO RGD:1351170 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1561599 Cers6 ceramide synthase 6 gene DOID:0080600 COVID-19 ISO RGD:1343383 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561599 Cers6 ceramide synthase 6 gene DOID:303 substance-related disorder ISO RGD:1343383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1561599 Cers6 ceramide synthase 6 gene DOID:630 genetic disease ISO RGD:1343383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561600 E2f3 E2F transcription factor 3 gene DOID:10283 prostate cancer ISO RGD:1320122 D RGD:13504717|PMID:25017995 20180118 RGD 1561600 E2f3 E2F transcription factor 3 gene DOID:10283 prostate cancer ISO RGD:1320122 D RGD:13504729|PMID:17701752 20180119 RGD 1561600 E2f3 E2F transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1320122 D RGD:13504730|PMID:15184867 20180119 RGD 1561600 E2f3 E2F transcription factor 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:1320122 D RGD:13702470|PMID:28337965 20180718 RGD 1561600 E2f3 E2F transcription factor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1320122 D RGD:13464341|PMID:16938365 20180104 RGD 1561600 E2f3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320122 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1561600 E2f3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320122 D RGD:13464345|PMID:27557513 20180104 RGD DNA:SNP: :rs3806116 (human) 1561600 E2f3 E2F transcription factor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1320122 D RGD:13464341|PMID:16938365 20180104 RGD 1561600 E2f3 E2F transcription factor 3 gene DOID:630 genetic disease ISO RGD:1320122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561601 Gp9 glycoprotein IX (platelet) gene DOID:0111947 immunodeficiency 21 ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1561601 Gp9 glycoprotein IX (platelet) gene DOID:1588 thrombocytopenia ISO RGD:1351167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15225244 1561601 Gp9 glycoprotein IX (platelet) gene DOID:1588 thrombocytopenia ISO RGD:1351167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:14510954|PMID:25370924|PMID:25741868|PMID:28131619|PMID:28492532|PMID:28765788|PMID:31064749|PMID:8049428|PMID:8481514 1561601 Gp9 glycoprotein IX (platelet) gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:11040531|PMID:8972003 20160309 RGD DNA:mutation:cds:p.C73Y(human) 1561601 Gp9 glycoprotein IX (platelet) gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:7240710 20130221 OMIM 1561601 Gp9 glycoprotein IX (platelet) gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency PMID:11167791|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28561420|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024 1561601 Gp9 glycoprotein IX (platelet) gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1351167 D RGD:13464128|PMID:28131619 20171222 RGD DNA:missense mutation:cds:c.182A>G(p.N61S)(human) 1561601 Gp9 glycoprotein IX (platelet) gene DOID:630 genetic disease ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561601 Gp9 glycoprotein IX (platelet) gene DOID:9001316 Bernard-Soulier Syndrome, Type C ISO RGD:1351167 D RGD:1599275|PMID:8481514 20070126 RGD DNA:missense mutations:cds:p.D21G, p.N45S (human) 1561601 Gp9 glycoprotein IX (platelet) gene DOID:9001316 Bernard-Soulier Syndrome, Type C ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome type C PMID:11167791|PMID:12100158|PMID:13442197|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024|PMID:9886312 1561601 Gp9 glycoprotein IX (platelet) gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1351167 D RGD:11040532|PMID:23103637 20160309 RGD 1561601 Gp9 glycoprotein IX (platelet) gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1561601 Gp9 glycoprotein IX (platelet) gene DOID:9270 alkaptonuria ISO RGD:1351167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1561602 Nlk nemo like kinase gene DOID:5844 myocardial infarction IEP D RGD:242905213|PMID:26861724 20230328 RGD mRNA, protein:decreased expression:heart 1561602 Nlk nemo like kinase gene DOID:630 genetic disease ISO RGD:1321854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561602 Nlk nemo like kinase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:12791278|PMID:24395089 20170303 RGD protein:increased expression:grey matter: 1561602 Nlk nemo like kinase gene DOID:9000438 Subarachnoid Hemorrhage disease_progression IEP D RGD:12791279|PMID:23325309 20170303 RGD 1561603 Zfp467 zinc finger protein 467 gene DOID:630 genetic disease ISO RGD:1350118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561605 Tada2b transcriptional adaptor 2B gene DOID:630 genetic disease ISO RGD:2979550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20498079|PMID:22025579|PMID:22773737|PMID:25741868|PMID:25780760|PMID:28492532|PMID:31196119 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:7240710 20171011 OMIM 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:32531858|PMID:33046855|PMID:33532864 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1603548 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17160889|PMID:20120035|PMID:20498079|PMID:25741868|PMID:28492532|PMID:30718709 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31888296|PMID:32531858|PMID:33046855|PMID:33964006 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:630 genetic disease ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20472660|PMID:25133751|PMID:25741868|PMID:28492532|PMID:33046855 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:8501 fundus dystrophy ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17160889|PMID:20080638|PMID:20120035|PMID:20472660|PMID:20498079|PMID:20827784|PMID:21209035|PMID:21463199|PMID:21642631|PMID:22410627|PMID:24611592|PMID:25741868|PMID:25982971|PMID:26489029|PMID:27659767|PMID:28492532|PMID:30614526|PMID:30718709|PMID:32531858|PMID:33046855 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603548 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532|PMID:30614526 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1603548 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603548 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561608 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9006534 Nervous System Malformations ISO RGD:1603548 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532 1561609 Tbc1d4 TBC1 domain family, member 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345136 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1561609 Tbc1d4 TBC1 domain family, member 4 gene DOID:3138 acanthosis nigricans ISO RGD:1345136 D RGD:7248544|PMID:19470471 20130807 RGD 1561609 Tbc1d4 TBC1 domain family, member 4 gene DOID:630 genetic disease ISO RGD:1345136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1561609 Tbc1d4 TBC1 domain family, member 4 gene DOID:9005905 Type 2 Diabetes Mellitus 5 ISO RGD:1345136 D RGD:7240710 20170308 OMIM 1561609 Tbc1d4 TBC1 domain family, member 4 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1345136 D RGD:7248544|PMID:19470471 20130807 RGD 1561609 Tbc1d4 TBC1 domain family, member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1345136 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Insulin resistance 1561612 LOC498368 similar to RIKEN cDNA 0610040J01 gene DOID:13580 cholestasis ISO RGD:1602474 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1561623 Thoc2 THO complex subunit 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 1561623 Thoc2 THO complex subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353819 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561623 Thoc2 THO complex subunit 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:7240710 20170510 OMIM 1561623 Thoc2 THO complex subunit 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:1605217|PMID:25741868|PMID:26166480|PMID:28492532|PMID:8825049 1561623 Thoc2 THO complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1353819 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1561623 Thoc2 THO complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1353819 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561623 Thoc2 THO complex subunit 2 gene DOID:630 genetic disease ISO RGD:1353819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1561623 Thoc2 THO complex subunit 2 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353819 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 1561623 Thoc2 THO complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353819 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561626 Tbc1d5 TBC1 domain family, member 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1321047 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1561626 Tbc1d5 TBC1 domain family, member 5 gene DOID:630 genetic disease ISO RGD:1321047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561629 Armcx1 armadillo repeat containing, X-linked 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345943 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561629 Armcx1 armadillo repeat containing, X-linked 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1561629 Armcx1 armadillo repeat containing, X-linked 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1561629 Armcx1 armadillo repeat containing, X-linked 1 gene DOID:12849 autistic disorder ISO RGD:1345943 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561629 Armcx1 armadillo repeat containing, X-linked 1 gene DOID:630 genetic disease ISO RGD:1345943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561629 Armcx1 armadillo repeat containing, X-linked 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345943 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561632 Il25 interleukin 25 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1561632 Il25 interleukin 25 gene DOID:10808 gastric ulcer treatment IEP D RGD:40902976|PMID:26054198 20201218 RGD 1561632 Il25 interleukin 25 gene DOID:2841 asthma ISO RGD:1557614 D RGD:39128256|PMID:25273095 20201218 RGD mRNA, protein:increased expression:lung 1561632 Il25 interleukin 25 gene DOID:3310 atopic dermatitis ISO RGD:1344819 D RGD:39128244|PMID:23657503 20201217 RGD protein:increased expression:arm skin 1561632 Il25 interleukin 25 gene DOID:630 genetic disease ISO RGD:1344819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561632 Il25 interleukin 25 gene DOID:8893 psoriasis ISO RGD:1344819 D RGD:39128244|PMID:23657503 20201217 RGD protein:increased expression:arm skin 1561632 Il25 interleukin 25 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557614 D RGD:39456129|PMID:19118508 20201218 RGD 1561632 Il25 interleukin 25 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 1561632 Il25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1557614|RGD:1344819 D RGD:39128243|PMID:28246365 20201217 RGD protein:decreased expression:intestine 1561632 Il25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1344819 D RGD:39128256|PMID:25273095 20201218 RGD protein:increased expression:nasal mucus 1561632 Il25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1557614 D RGD:39128256|PMID:25273095 20201218 RGD mRNA, protein:increased expression:lung 1561632 Il25 interleukin 25 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1561632 Il25 interleukin 25 gene DOID:9415 allergic asthma treatment ISO RGD:1557614 D RGD:40902975|PMID:17889290 20201218 RGD 1561642 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347143 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561642 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1347143 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561642 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:630 genetic disease ISO RGD:1347143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561642 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347143 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561642 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347143 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 1561646 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:13501 Moebius syndrome ISO RGD:1606700 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1561646 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606700 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561646 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:630 genetic disease ISO RGD:1606700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561646 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606700 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561648 C7h12orf56 similar to human chromosome 12 open reading frame 56 gene DOID:630 genetic disease ISO RGD:1603368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561649 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1604836 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1561649 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:5041 esophageal cancer ISO RGD:1604836 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868 1561649 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:630 genetic disease ISO RGD:1604836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561649 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1604836 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1561649 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1604836 D RGD:11252164|PMID:27168825 20160627 RGD DNA:hypermethylation:promoter: 1561650 Aarsd1 alanyl-tRNA synthetase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561651 Zfp609 zinc finger protein 609 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349333 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1561651 Zfp609 zinc finger protein 609 gene DOID:11054 urinary bladder cancer ISO RGD:1349333 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35567596 1561651 Zfp609 zinc finger protein 609 gene DOID:2717 Bloom syndrome ISO RGD:1349333 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561651 Zfp609 zinc finger protein 609 gene DOID:630 genetic disease ISO RGD:1349333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561651 Zfp609 zinc finger protein 609 gene DOID:9256 colorectal cancer ISO RGD:1349333 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561652 Osbpl10 oxysterol binding protein-like 10 gene DOID:630 genetic disease ISO RGD:1350183 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320 1561653 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350415 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 1561653 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561653 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1561662 C9h6orf132 similar to human chromosome 6 open reading frame 132 gene DOID:0050444 infantile Refsum disease ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1561662 C9h6orf132 similar to human chromosome 6 open reading frame 132 gene DOID:630 genetic disease ISO RGD:1354360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561662 C9h6orf132 similar to human chromosome 6 open reading frame 132 gene DOID:905 Zellweger syndrome ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1561664 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1561664 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1561664 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:630 genetic disease ISO RGD:1343391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561664 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1561665 Tbata thymus, brain and testes associated gene DOID:10487 Hirschsprung's disease ISO RGD:1322498 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1561665 Tbata thymus, brain and testes associated gene DOID:630 genetic disease ISO RGD:1322498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561666 H2ab3 H2A.B variant histone 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561666 H2ab3 H2A.B variant histone 3 gene DOID:0050476 Barth syndrome ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561666 H2ab3 H2A.B variant histone 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561666 H2ab3 H2A.B variant histone 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1346656 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1561666 H2ab3 H2A.B variant histone 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561666 H2ab3 H2A.B variant histone 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561666 H2ab3 H2A.B variant histone 3 gene DOID:12134 factor VIII deficiency ISO RGD:1346656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 1561666 H2ab3 H2A.B variant histone 3 gene DOID:12849 autistic disorder ISO RGD:1346656 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561666 H2ab3 H2A.B variant histone 3 gene DOID:13628 favism ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1561666 H2ab3 H2A.B variant histone 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1561666 H2ab3 H2A.B variant histone 3 gene DOID:607 paraplegia ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561666 H2ab3 H2A.B variant histone 3 gene DOID:630 genetic disease ISO RGD:1346656 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561666 H2ab3 H2A.B variant histone 3 gene DOID:9002720 Splenomegaly ISO RGD:1346656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1561668 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1343059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 1561668 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1343059 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 1561668 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343059 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561668 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:1343059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561668 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:670 amphetamine abuse ISO RGD:1343059 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1561668 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 1561672 Eml6 EMAP like 6 gene DOID:10126 keratoconus ISO RGD:2302327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 1561672 Eml6 EMAP like 6 gene DOID:630 genetic disease ISO RGD:2302327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561673 Ccdc125 coiled-coil domain containing 125 gene DOID:630 genetic disease ISO RGD:1604973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561673 Ccdc125 coiled-coil domain containing 125 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604973 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561676 Klhdc4 kelch domain containing 4 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1561676 Klhdc4 kelch domain containing 4 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1561676 Klhdc4 kelch domain containing 4 gene DOID:630 genetic disease ISO RGD:1322601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561676 Klhdc4 kelch domain containing 4 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1322601 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 1561676 Klhdc4 kelch domain containing 4 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1322601 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1561678 Tenm1 teneurin transmembrane protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350445 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561678 Tenm1 teneurin transmembrane protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1350445 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 1561678 Tenm1 teneurin transmembrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1350445 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561678 Tenm1 teneurin transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1350445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561678 Tenm1 teneurin transmembrane protein 1 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1350445 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 1561684 RGD1561684 similar to keratin associated protein 2-4 gene DOID:630 genetic disease ISO RGD:1343099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561685 Maco1 macoilin 1 gene DOID:630 genetic disease ISO RGD:1605378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561685 Maco1 macoilin 1 gene DOID:9000528 Coronary Disease ISO RGD:1605378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 1561685 Maco1 macoilin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1605378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 1561687 Dach2 dachshund family transcription factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354112 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561687 Dach2 dachshund family transcription factor 2 gene DOID:12849 autistic disorder ISO RGD:1354112 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561687 Dach2 dachshund family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1354112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561692 Jam2 junctional adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343747 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1561692 Jam2 junctional adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 1561692 Jam2 junctional adhesion molecule 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1615884 D RGD:7488919|PMID:16297198 20131205 RGD 1561692 Jam2 junctional adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1343747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561692 Jam2 junctional adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343747 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561692 Jam2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:7240710 20200408 OMIM 1561692 Jam2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive PMID:26136916|PMID:31851307|PMID:32142645 1561698 Tmprss11e transmembrane serine protease 11E gene DOID:630 genetic disease ISO RGD:1606302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561698 Tmprss11e transmembrane serine protease 11E gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346360 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:630 genetic disease ISO RGD:1346360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561700 Cdc42se1 CDC42 small effector 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346360 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561702 Ctag2 cancer/testis antigen 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561702 Ctag2 cancer/testis antigen 2 gene DOID:0050476 Barth syndrome ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561702 Ctag2 cancer/testis antigen 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561702 Ctag2 cancer/testis antigen 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344888 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1561702 Ctag2 cancer/testis antigen 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344888 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1561702 Ctag2 cancer/testis antigen 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561702 Ctag2 cancer/testis antigen 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561702 Ctag2 cancer/testis antigen 2 gene DOID:12849 autistic disorder ISO RGD:1344888 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561702 Ctag2 cancer/testis antigen 2 gene DOID:13628 favism ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1561702 Ctag2 cancer/testis antigen 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1344888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1561702 Ctag2 cancer/testis antigen 2 gene DOID:607 paraplegia ISO RGD:1344888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1561702 Ctag2 cancer/testis antigen 2 gene DOID:630 genetic disease ISO RGD:1344888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561702 Ctag2 cancer/testis antigen 2 gene DOID:9002720 Splenomegaly ISO RGD:1344888 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349237 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:26056227 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:7240710 20180321 OMIM 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome PMID:17576681|PMID:1915520|PMID:19377476|PMID:2018061|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:4039531|PMID:9536098 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349237 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1349237 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:23623388 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:10907 microcephaly ISO RGD:1349237 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26056227 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:12849 autistic disorder ISO RGD:1349237 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:630 genetic disease ISO RGD:1349237 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349237 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1915520|PMID:23623388|PMID:25741868|PMID:28814648 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:7240710 20200826 OMIM 1561708 Zc4h2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:23623388|PMID:25741868|PMID:28814648|PMID:31206972 1561711 Bri3bp Bri3 binding protein gene DOID:630 genetic disease ISO RGD:1348808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561714 Edar ectodysplasin-A receptor gene DOID:0050591 tooth agenesis ISO RGD:1344202 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 1561714 Edar ectodysplasin-A receptor gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1344202 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1344202 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1344202 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:1598883|PMID:10431241 20061220 RGD 1561714 Edar ectodysplasin-A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:7240710 20130221 OMIM 1561714 Edar ectodysplasin-A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 1561714 Edar ectodysplasin-A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:7240710 20130221 OMIM 1561714 Edar ectodysplasin-A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:10754 otitis media treatment ISO RGD:1557662 D RGD:14398763|PMID:31028034 20190430 RGD 1561714 Edar ectodysplasin-A receptor gene DOID:13714 anodontia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 1561714 Edar ectodysplasin-A receptor gene DOID:14793 hypohidrotic ectodermal dysplasia ISS RGD:1557662 D RGD:13592920 20180518 MouseDO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 1561714 Edar ectodysplasin-A receptor gene DOID:2121 ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:630 genetic disease ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:28492532 1561714 Edar ectodysplasin-A receptor gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1344202 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 1561716 Mfsd2b MFSD2 lysolipid transporter B, sphingolipid gene DOID:630 genetic disease ISO RGD:3476989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561719 Atp11b ATPase phospholipid transporting 11B (putative) gene DOID:0111546 Currarino syndrome ISO RGD:1348822 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1561719 Atp11b ATPase phospholipid transporting 11B (putative) gene DOID:630 genetic disease ISO RGD:1348822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561721 Fscb fibrous sheath CABYR binding protein gene DOID:13636 Fanconi anemia ISO RGD:1343697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 1561721 Fscb fibrous sheath CABYR binding protein gene DOID:630 genetic disease ISO RGD:1343697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561721 Fscb fibrous sheath CABYR binding protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343697 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1561724 Dock4 dedicator of cytokinesis 4 gene DOID:12849 autistic disorder ISO RGD:1350295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19401682 1561724 Dock4 dedicator of cytokinesis 4 gene DOID:12849 autistic disorder ISO RGD:1350295 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561724 Dock4 dedicator of cytokinesis 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350295 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561724 Dock4 dedicator of cytokinesis 4 gene DOID:5419 schizophrenia ISO RGD:1350295 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561724 Dock4 dedicator of cytokinesis 4 gene DOID:630 genetic disease ISO RGD:1350295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561724 Dock4 dedicator of cytokinesis 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350295 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561726 Lrrc55 leucine rich repeat containing 55 gene DOID:1059 intellectual disability ISO RGD:1603880 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561726 Lrrc55 leucine rich repeat containing 55 gene DOID:630 genetic disease ISO RGD:1603880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561727 Proca1 protein interacting with cyclin A1 gene DOID:630 genetic disease ISO RGD:1603267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561733 Mef2b myocyte enhancer factor 2B gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1351770 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1561733 Mef2b myocyte enhancer factor 2B gene DOID:630 genetic disease ISO RGD:1351770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561733 Mef2b myocyte enhancer factor 2B gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1351770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1561734 Tmem200c transmembrane protein 200C gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:3302319 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1561734 Tmem200c transmembrane protein 200C gene DOID:1059 intellectual disability ISO RGD:3302319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561737 Rnf144a ring finger protein 144A gene DOID:630 genetic disease ISO RGD:1343789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561739 Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:630 genetic disease ISO RGD:1348683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561739 Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348683 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1561739 Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 gene DOID:9001488 Human Influenza ISO RGD:1348683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1561740 Kif18a kinesin family member 18A gene DOID:10534 stomach cancer disease_progression ISO RGD:1352766 D RGD:11554202|PMID:27215532 20161025 RGD 1561740 Kif18a kinesin family member 18A gene DOID:1059 intellectual disability ISO RGD:1352766 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561740 Kif18a kinesin family member 18A gene DOID:630 genetic disease ISO RGD:1352766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561740 Kif18a kinesin family member 18A gene DOID:684 hepatocellular carcinoma ISO RGD:1352766 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1561740 Kif18a kinesin family member 18A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352766 D RGD:11554203|PMID:21213216 20161025 RGD 1561742 Stk24 serine/threonine kinase 24 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1345827 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1561742 Stk24 serine/threonine kinase 24 gene DOID:4621 holoprosencephaly ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1561742 Stk24 serine/threonine kinase 24 gene DOID:630 genetic disease ISO RGD:1345827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561742 Stk24 serine/threonine kinase 24 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345827 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350623 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350623 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350623 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:12849 autistic disorder ISO RGD:1350623 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561744 Timm17b translocase of inner mitochondrial membrane 17b gene DOID:630 genetic disease ISO RGD:1350623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561747 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0050335 bradyopsia ISO RGD:1601793 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1561747 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0050335 bradyopsia ISO RGD:1601793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:25741868|PMID:28492532 1561747 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1561747 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:630 genetic disease ISO RGD:1601793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561747 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:9003661 Bradyopsia 2 ISO RGD:1601793 D RGD:7240710 20230505 OMIM 1561747 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:9003661 Bradyopsia 2 ISO RGD:1601793 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 PMID:19818506 1561749 Dscc1 DNA replication and sister chromatid cohesion 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1604296 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1561749 Dscc1 DNA replication and sister chromatid cohesion 1 gene DOID:630 genetic disease ISO RGD:1604296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561761 Il1rapl2 interleukin 1 receptor accessory protein-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349606 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561761 Il1rapl2 interleukin 1 receptor accessory protein-like 2 gene DOID:12849 autistic disorder ISO RGD:1349606 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561761 Il1rapl2 interleukin 1 receptor accessory protein-like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1349606 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 1561761 Il1rapl2 interleukin 1 receptor accessory protein-like 2 gene DOID:630 genetic disease ISO RGD:1349606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561762 Ccdc117 coiled-coil domain containing 117 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1602294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1561762 Ccdc117 coiled-coil domain containing 117 gene DOID:630 genetic disease ISO RGD:1602294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561762 Ccdc117 coiled-coil domain containing 117 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:18252223|PMID:19377476|PMID:25741868|PMID:28492532|PMID:29118367|PMID:29651030 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343412 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:7240710 20190515 OMIM 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:16700052|PMID:18252223|PMID:19377476|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25741869|PMID:25985138|PMID:27130160|PMID:27884935|PMID:28492532|PMID:29118367|PMID:29180823|PMID:29651030|PMID:30797980|PMID:6107045|PMID:7943042|PMID:7943044 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1343412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112037 chromosome Xp11.22 duplication syndrome ISO RGD:1343412 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: HUWE1-Related Disorder 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:10348 blepharophimosis ISO RGD:1343412 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29180823 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:12849 autistic disorder ISO RGD:1343412 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1343412 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16700052|PMID:18414213|PMID:25644381|PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:7708685|PMID:9153201 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343412 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9006231 Say Meyer Syndrome ISO RGD:1343412 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Trigonocephaly, short stature, and retarded psychomotor development PMID:25741868|PMID:30797980 1561763 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741905|PMID:28492532 1561764 Sft2d3 SFT2 domain containing 3 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1603003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1561764 Sft2d3 SFT2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561765 Eif2d eukaryotic translation initiation factor 2D gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1561765 Eif2d eukaryotic translation initiation factor 2D gene DOID:12849 autistic disorder ISO RGD:1322883 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561765 Eif2d eukaryotic translation initiation factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:1322883 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561765 Eif2d eukaryotic translation initiation factor 2D gene DOID:630 genetic disease ISO RGD:1322883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561765 Eif2d eukaryotic translation initiation factor 2D gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322883 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1561765 Eif2d eukaryotic translation initiation factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322883 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561779 Ccdc142 coiled-coil domain containing 142 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1561779 Ccdc142 coiled-coil domain containing 142 gene DOID:543 dystonia ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561779 Ccdc142 coiled-coil domain containing 142 gene DOID:630 genetic disease ISO RGD:1606203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561779 Ccdc142 coiled-coil domain containing 142 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1561781 Tmem88 transmembrane protein 88 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1561781 Tmem88 transmembrane protein 88 gene DOID:12177 common variable immunodeficiency ISO RGD:1601835 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1561781 Tmem88 transmembrane protein 88 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1561781 Tmem88 transmembrane protein 88 gene DOID:2729 dyskeratosis congenita ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1561781 Tmem88 transmembrane protein 88 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1561781 Tmem88 transmembrane protein 88 gene DOID:630 genetic disease ISO RGD:1601835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561783 Stard5 StAR-related lipid transfer domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1317618 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561783 Stard5 StAR-related lipid transfer domain containing 5 gene DOID:630 genetic disease ISO RGD:1317618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561783 Stard5 StAR-related lipid transfer domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1317618 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561790 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322389 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561790 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:1322389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561790 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1322389 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1561790 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1322389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 1561791 Parp11 poly (ADP-ribose) polymerase family, member 11 gene DOID:630 genetic disease ISO RGD:1344916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561791 Parp11 poly (ADP-ribose) polymerase family, member 11 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344916 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1561792 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0080855 Parkinsonism ISO RGD:1606864 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:27134041|PMID:27753167 1561792 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1561792 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561792 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0050777 Joubert syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:1826 epilepsy ISO RGD:1602162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:630 genetic disease ISO RGD:1602162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561793 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1561795 C8h11orf97 similar to human chromosome 11 open reading frame 97 gene DOID:630 genetic disease ISO RGD:7821812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561796 RGD1561796 RGD1561796 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1561796 RGD1561796 RGD1561796 gene DOID:1826 epilepsy ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1561796 RGD1561796 RGD1561796 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2303333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1561796 RGD1561796 RGD1561796 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1344929 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:5812 MHC class II deficiency ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1344929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 1561797 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344929 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561800 Lrrc61 leucine rich repeat containing 61 gene DOID:630 genetic disease ISO RGD:1602102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561806 LOC498933 LOC498933 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:2974931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1561806 LOC498933 LOC498933 gene DOID:630 genetic disease ISO RGD:2974931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0111940 immunodeficiency 42 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:7240710 20200902 OMIM 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 PMID:31469168 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:1540 parathyroid carcinoma ISO RGD:1349412 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:423 myopathy ISO RGD:1349412 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:5812 MHC class II deficiency ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:630 genetic disease ISO RGD:1349412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:7240710 20150304 OMIM 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED PMID:19576565|PMID:25741868|PMID:28492532|PMID:28803818|PMID:29246662|PMID:30931530|PMID:31266720|PMID:31469168 1561807 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349412 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:0050589 inflammatory bowel disease IEP D RGD:1625272|PMID:17065219 20070531 RGD protein:decreased expression:epithelial cell, colon 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347984 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:10608 celiac disease ISO RGD:1347984 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:12849 autistic disorder ISO RGD:1347984 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:1485 cystic fibrosis ISO RGD:1347984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:630 genetic disease ISO RGD:1347984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:8437 intestinal obstruction ISO RGD:1347984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:9002802 Acidoses IEP D RGD:1625278|PMID:15300171 20070531 RGD mRNA:increased expression:jejunum 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:9005474 Experimental Sarcoma IEP D RGD:1625275|PMID:17006743 20070531 RGD mRNA, protein:increased expression:brush border epithelial cell 1561810 Slc6a14 solute carrier family 6 member 14 gene DOID:9970 obesity susceptibility ISO RGD:1347984 D RGD:1625271|PMID:15331564 20070531 RGD DNA:SNPs 1561814 Garin1a golgi associated RAB2 interactor 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604702 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561814 Garin1a golgi associated RAB2 interactor 1A gene DOID:630 genetic disease ISO RGD:1604702 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561816 Foxi3 forkhead box I3 gene DOID:14693 Clouston syndrome ISO RGD:12293264 D RGD:9068941 20210604 OMIA Ectodermal dysplasia PMID:15771734|PMID:15958791|PMID:18787161|PMID:23413772|PMID:23441037|PMID:27994129|PMID:28710361|PMID:3998444|PMID:8437436 1561816 Foxi3 forkhead box I3 gene DOID:2907 Goldenhar syndrome ISO RGD:2302532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:28492532 1561816 Foxi3 forkhead box I3 gene DOID:630 genetic disease ISO RGD:2302532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:0060071 pre-malignant neoplasm HEP D RGD:151347836|PMID:22242189 20220202 RGD mRNA:increased expression:colon (human) 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:0080521 lung non-squamous non-small cell carcinoma ameliorates ISO RGD:1346178 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:lung (human) PMID:25250715|REF_RGD_ID:151347838 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:7240710 20190315 OMIM 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 PMID:25741868|PMID:27106596|PMID:28492532 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:1062 Fanconi syndrome ISO RGD:1346178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:37 skin disease ISO RGD:1346178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:630 genetic disease ISO RGD:1346178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased phosphorylation:liver, nucleus (human) PMID:25160513|REF_RGD_ID:151347837 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:9007964 Arsenic Poisoning ISO RGD:1346178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1558507 D RGD:151347682|PMID:27562646 20220131 RGD 1561817 Tnik TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:26499327|REF_RGD_ID:11530847 1561818 Nhs NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:1598795|PMID:16736028 20061219 RGD DNA:snp, insertion, nonsense mutations:multiple (human) 1561818 Nhs NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:7240710 20130221 OMIM 1561818 Nhs NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:14564667|PMID:15466011|PMID:15623749|PMID:16199547|PMID:16736028|PMID:17256798|PMID:17304053|PMID:17576681|PMID:18018428|PMID:18076117|PMID:18949062|PMID:19414485|PMID:20882036|PMID:2246772|PMID:23265383|PMID:23757202|PMID:24968223|PMID:25266737|PMID:25315662|PMID:25741868|PMID:26633542|PMID:27148795|PMID:27159028|PMID:28492532|PMID:28557584|PMID:29611406|PMID:30642278|PMID:30945684|PMID:458526|PMID:9536098 1561818 Nhs NHS actin remodeling regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352036 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561818 Nhs NHS actin remodeling regulator gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 1561818 Nhs NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:7240710 20140212 OMIM 1561818 Nhs NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 40 PMID:19414485|PMID:23757202|PMID:25741868|PMID:28492532 1561818 Nhs NHS actin remodeling regulator gene DOID:0111042 glycogen storage disease IXa ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1561818 Nhs NHS actin remodeling regulator gene DOID:10283 prostate cancer ISO RGD:1352036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 1561818 Nhs NHS actin remodeling regulator gene DOID:1059 intellectual disability ISO RGD:1352036 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1561818 Nhs NHS actin remodeling regulator gene DOID:12849 autistic disorder ISO RGD:1352036 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561818 Nhs NHS actin remodeling regulator gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1561818 Nhs NHS actin remodeling regulator gene DOID:630 genetic disease ISO RGD:1352036 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14564667|PMID:19414485|PMID:23265383|PMID:23757202|PMID:25741868|PMID:28492532 1561818 Nhs NHS actin remodeling regulator gene DOID:83 cataract ISO RGD:1352036 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 1561818 Nhs NHS actin remodeling regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352036 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561825 Efcab7 EF-hand calcium binding domain 7 gene DOID:1059 intellectual disability ISO RGD:1603602 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1561825 Efcab7 EF-hand calcium binding domain 7 gene DOID:630 genetic disease ISO RGD:1603602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561826 Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351295 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561826 Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351295 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 1561826 Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1351295 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561826 Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 gene DOID:630 genetic disease ISO RGD:1351295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561830 Fam81b family with sequence similarity 81, member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561830 Fam81b family with sequence similarity 81, member B gene DOID:630 genetic disease ISO RGD:1603176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561830 Fam81b family with sequence similarity 81, member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603176 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561830 Fam81b family with sequence similarity 81, member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561831 Tgm3 transglutaminase 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343492 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1561831 Tgm3 transglutaminase 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1561831 Tgm3 transglutaminase 3 gene DOID:630 genetic disease ISO RGD:1343492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561831 Tgm3 transglutaminase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343492 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1561831 Tgm3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:7240710 20190315 OMIM 1561831 Tgm3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 2 PMID:24183230|PMID:27866708 1561831 Tgm3 transglutaminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1343492 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1561833 Zmym6 zinc finger MYM-type containing 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1345857 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1561833 Zmym6 zinc finger MYM-type containing 6 gene DOID:630 genetic disease ISO RGD:1345857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561842 En2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 1561842 En2 engrailed homeobox 2 gene DOID:0080855 Parkinsonism ISO RGD:1557783 D RGD:5687199|PMID:17015829 20120206 RGD 1561842 En2 engrailed homeobox 2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1343015 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 1561842 En2 engrailed homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1343015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15024396|PMID:16935268|PMID:19186208|PMID:20523082 1561842 En2 engrailed homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1343015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 10 | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:15024396|PMID:16252243|PMID:21681106|PMID:30208311 1561842 En2 engrailed homeobox 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1343015 D RGD:9068941 20200806 RGD DNA:SNPs:intron:rs1861972, rs1861973(human) PMID:15024396|REF_RGD_ID:1358620 1561842 En2 engrailed homeobox 2 gene DOID:630 genetic disease ISO RGD:1343015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561842 En2 engrailed homeobox 2 gene DOID:9001661 Taste Disorders ISO RGD:1343015 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:29953887 1561845 Sprn shadow of prion protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602790 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1561845 Sprn shadow of prion protein gene DOID:630 genetic disease ISO RGD:1602790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561846 Cytl1 cytokine like 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1351161 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1561846 Cytl1 cytokine like 1 gene DOID:630 genetic disease ISO RGD:1351161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561846 Cytl1 cytokine like 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1351161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 1561848 Slamf6 SLAM family member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1561848 Slamf6 SLAM family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1345807 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561848 Slamf6 SLAM family member 6 gene DOID:630 genetic disease ISO RGD:1345807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561848 Slamf6 SLAM family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345807 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561852 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1561852 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1561852 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1345016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561852 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1345016 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1561854 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1561854 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603722 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561854 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1561854 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603722 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561859 Pgpep1l pyroglutamyl-peptidase I-like gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:3052652 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1561859 Pgpep1l pyroglutamyl-peptidase I-like gene DOID:630 genetic disease ISO RGD:3052652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348501 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17186471|PMID:17617514|PMID:23756445 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:7240710 20140723 OMIM 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:10398241|PMID:12599187|PMID:17186471|PMID:17617514|PMID:18414213|PMID:18428203|PMID:2018058|PMID:23756445|PMID:25741868|PMID:33847015|PMID:5054319 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:12849 autistic disorder ISO RGD:1348501 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:13636 Fanconi anemia ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1348501 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561862 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348501 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561865 Lysmd1 LysM domain containing 1 gene DOID:0080422 Dravet syndrome ISO RGD:1603473 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 1561865 Lysmd1 LysM domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1561865 Lysmd1 LysM domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1561865 Lysmd1 LysM domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1561865 Lysmd1 LysM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603473 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561865 Lysmd1 LysM domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1561865 Lysmd1 LysM domain containing 1 gene DOID:630 genetic disease ISO RGD:1603473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561865 Lysmd1 LysM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603473 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561867 Lefty1 left right determination factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350904 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561867 Lefty1 left right determination factor 1 gene DOID:630 genetic disease ISO RGD:1350904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561867 Lefty1 left right determination factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350904 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561872 Siva1 SIVA1, apoptosis-inducing factor gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1561872 Siva1 SIVA1, apoptosis-inducing factor gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1561872 Siva1 SIVA1, apoptosis-inducing factor gene DOID:630 genetic disease ISO RGD:1603317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561872 Siva1 SIVA1, apoptosis-inducing factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1603317 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16683188 1561873 Myo15a myosin XVA gene DOID:0050563 nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27068579|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:31980526|PMID:7704031|PMID:9603736 1561873 Myo15a myosin XVA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17546645|PMID:27573290|PMID:28492532|PMID:30303587 1561873 Myo15a myosin XVA gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1561873 Myo15a myosin XVA gene DOID:0050777 Joubert syndrome ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1561873 Myo15a myosin XVA gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343693 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1561873 Myo15a myosin XVA gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1561873 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33372036 1561873 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:7240710 20130425 OMIM 1561873 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:10552926|PMID:11735029|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17853461|PMID:19274735|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23804846|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24853665|PMID:24875298|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26075876|PMID:26226137|PMID:26242193|PMID:26302205|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26810297|PMID:26915297|PMID:26969326|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29907799|PMID:29986705|PMID:30096381|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30828794|PMID:30953472|PMID:31053783|PMID:31130284|PMID:31581539|PMID:31827275|PMID:31980526|PMID:32623615|PMID:32747562|PMID:32860223|PMID:33187236|PMID:33398081|PMID:33524517|PMID:34599368|PMID:35802133|PMID:36633841|PMID:7616538|PMID:7704031|PMID:9536098|PMID:9603736 1561873 Myo15a myosin XVA gene DOID:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:1600554|PMID:9603736 20070314 RGD DFNB3, OMIM:600316, DNA:point mutation:exon:I892F 1561873 Myo15a myosin XVA gene DOID:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:17546645|PMID:17576681|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:28492532|PMID:9536098 1561873 Myo15a myosin XVA gene DOID:10983 Alport syndrome ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:28492532|PMID:30311386 1561873 Myo15a myosin XVA gene DOID:12849 autistic disorder ISO RGD:1343693 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561873 Myo15a myosin XVA gene DOID:1432 blindness induces IAGP D RGD:150429616|PMID:21479269 20210909 RGD DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) 1561873 Myo15a myosin XVA gene DOID:1432 blindness induces IAGP XCO:0000181 D RGD:150429616|PMID:21479269 20210916 RGD compared to LEW/Ztm 1561873 Myo15a myosin XVA gene DOID:1826 epilepsy ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 1561873 Myo15a myosin XVA gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 1561873 Myo15a myosin XVA gene DOID:630 genetic disease ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15654330|PMID:17546645|PMID:17851452|PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:7616538|PMID:7704031 1561873 Myo15a myosin XVA gene DOID:674 cleft palate ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 1561873 Myo15a myosin XVA gene DOID:9004538 Hearing Loss ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17546645|PMID:21917145|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24875298|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:31980526|PMID:32747562|PMID:33524517|PMID:7616538|PMID:7704031 1561873 Myo15a myosin XVA gene DOID:9007233 Deafness, with Smith-Magenis Syndrome ISO RGD:1343693 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome PMID:11735029|PMID:17546645|PMID:19274735|PMID:24033266|PMID:28492532 1561873 Myo15a myosin XVA gene DOID:9008086 Developmental Disabilities ISO RGD:1343693 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1344611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1344611 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:25741868|PMID:32581362 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:10450876|PMID:23099237 20160224 RGD DNA:mutations:cds: 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:11038712|PMID:24216483 20160222 RGD 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:7240710 20141015 OMIM 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:27069254|PMID:27276561|PMID:27895058 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344611 D RGD:11038707|PMID:21576631 20160222 RGD DNA:mutations:cds: 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1344611 D RGD:11038769|PMID:24045501 20160224 RGD 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1344611 D RGD:11038767|PMID:20880116 20160224 RGD DNA:mutations:exon: 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1344611 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:1059 intellectual disability ISO RGD:1344611 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:10907 microcephaly ISO RGD:1344611 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:1826 epilepsy ISO RGD:1344611 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:2154 nephroblastoma ISO RGD:1344611 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:2226 myeloproliferative neoplasm ISS RGD:1557697 D RGD:13592920 20191128 MouseDO 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:420 hypertrichosis ISO RGD:1344611 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:21706002|PMID:25741868 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:4797 SM-AHNMD disease_progression ISO RGD:1344611 D RGD:11038711|PMID:24465546 20160222 RGD DNA:mutations: : 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis ISO RGD:1344611 D RGD:11038705|PMID:21712540 20160222 RGD DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis disease_progression ISO RGD:1344611 D RGD:11038768|PMID:23619563 20160224 RGD DNA:mutations: : 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:630 genetic disease ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16412590|PMID:21706002|PMID:25131622|PMID:25741868|PMID:25921057|PMID:26364555|PMID:28229513|PMID:28492532|PMID:30806792|PMID:31969346 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344611 D RGD:126779580|PMID:32317519 20210409 RGD associated with colorectal cancer 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21706002 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:7240710 20130221 OMIM 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:16412590|PMID:18414213|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24033266|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25131622|PMID:25326635|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:26467025|PMID:26633542|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28492532|PMID:29681105|PMID:30147881|PMID:30158690|PMID:31692235|PMID:31969346|PMID:32581362 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344611 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1344611 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:16412590|PMID:30806792 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:21706002|PMID:25741868|PMID:28492532 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia ISS RGD:1557697 D RGD:13592920 20191128 MouseDO OMIM:601626 1561878 Asxl1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1344611 D RGD:11038706|PMID:20693432 20160222 RGD DNA:mutations:exon: 1561880 Anapc11 anaphase promoting complex subunit 11 gene DOID:630 genetic disease ISO RGD:1343647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561883 Odam odontogenic, ameloblast associated gene DOID:630 genetic disease ISO RGD:1603034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561883 Odam odontogenic, ameloblast associated gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1603034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1561884 Spns3 sphingolipid transporter 3 gene DOID:630 genetic disease ISO RGD:1601816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561889 Rad54l2 RAD54 like 2 gene DOID:630 genetic disease ISO RGD:1604389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561893 Ankrd44 ankyrin repeat domain 44 gene DOID:630 genetic disease ISO RGD:1605602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561893 Ankrd44 ankyrin repeat domain 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605602 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561898 Prr7 proline rich 7 (synaptic) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1561898 Prr7 proline rich 7 (synaptic) gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1561898 Prr7 proline rich 7 (synaptic) gene DOID:0112103 Sotos syndrome 1 ISO RGD:1345236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1561898 Prr7 proline rich 7 (synaptic) gene DOID:630 genetic disease ISO RGD:1345236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561898 Prr7 proline rich 7 (synaptic) gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345236 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1561903 Tmem270 transmembrane protein 270 gene DOID:0060041 autism spectrum disorder ISO RGD:1602434 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1561903 Tmem270 transmembrane protein 270 gene DOID:10923 sickle cell anemia ISO RGD:1602434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1561903 Tmem270 transmembrane protein 270 gene DOID:12849 autistic disorder ISO RGD:1602434 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561903 Tmem270 transmembrane protein 270 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1602434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1561903 Tmem270 transmembrane protein 270 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1602434 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 1561903 Tmem270 transmembrane protein 270 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602434 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561903 Tmem270 transmembrane protein 270 gene DOID:5419 schizophrenia ISO RGD:1602434 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561903 Tmem270 transmembrane protein 270 gene DOID:8445 intestinal volvulus ISO RGD:1602434 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1561903 Tmem270 transmembrane protein 270 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602434 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561903 Tmem270 transmembrane protein 270 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1602434 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1561909 Rnf225 ring finger protein 225 gene DOID:630 genetic disease ISO RGD:9587522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561912 P2ry10 P2Y receptor family member 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343009 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561912 P2ry10 P2Y receptor family member 10 gene DOID:12849 autistic disorder ISO RGD:1343009 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561912 P2ry10 P2Y receptor family member 10 gene DOID:630 genetic disease ISO RGD:1343009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1606321 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:1612 breast cancer ISO RGD:1606321 D RGD:5688064|PMID:20847343 20120217 RGD protein:increased expression:breast tumor cell, cytoplasm (human) 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:1936 atherosclerosis ISO RGD:1606321 D RGD:5688075|PMID:14736553 20120217 RGD protein:decreased expression:mammary arteries (human) 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:3181 oligodendroglioma ISO RGD:1606321 D RGD:5688067|PMID:19347995 20120217 RGD protein:increased expression:brain cortex, white matter (human) 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:3602 toxic encephalopathy ISO RGD:1606321 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:630 genetic disease ISO RGD:1606321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:9002211 Hyperalgesia IMP D RGD:5688057|PMID:16192391 20120217 RGD 1561913 Ptges3 prostaglandin E synthase 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:2300108|PMID:12707354 20120217 RGD mRNA:increased expression:paw (rat) 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322222 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:0080942 anauxetic dysplasia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:630 genetic disease ISO RGD:1322222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1561916 Spmip6 sperm microtubule inner protein 6 gene DOID:9870 galactosemia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1561923 Fam220a family with sequence similarity 220, member A gene DOID:630 genetic disease ISO RGD:1606484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561926 Snw1 SNW domain containing 1 gene DOID:11446 sciatic neuropathy IDA D RGD:11035242|PMID:23389663 20160212 RGD protein:increased expression:sciatic nerve (rat) 1561926 Snw1 SNW domain containing 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1321977 D RGD:2683526|PMID:19377877 20160212 RGD DNA:snp:intron: T>A (human) (rs1477261) 1561926 Snw1 SNW domain containing 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1321977 D RGD:11035249|PMID:20056645 20160212 RGD DNA:snp:intron: T>A (human) (rs1477261) 1561926 Snw1 SNW domain containing 1 gene DOID:3459 breast carcinoma severity ISO RGD:1321977 D RGD:11035252|PMID:24150787 20160212 RGD protein:increased expression:breast (human) 1561926 Snw1 SNW domain containing 1 gene DOID:630 genetic disease ISO RGD:1321977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561926 Snw1 SNW domain containing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321977 D RGD:11035253|PMID:23696020 20160212 RGD protein:increased expression:liver (human) 1561926 Snw1 SNW domain containing 1 gene DOID:9000998 Brain Injuries IEP D RGD:11035237|PMID:22965216 20160212 RGD mRNA, protein:increased expression:cerebral cortex (rat) 1561926 Snw1 SNW domain containing 1 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:11035254|PMID:25074585 20160212 RGD protein:increased expression:retina (rat) 1561931 Nexmif neurite extension and migration factor gene DOID:0060041 autism spectrum disorder ISS RGD:1614872 D RGD:13592920 20201105 MouseDO 1561931 Nexmif neurite extension and migration factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603497 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1561931 Nexmif neurite extension and migration factor gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1603497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785 1561931 Nexmif neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:7240710 20140903 OMIM 1561931 Nexmif neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:15466006|PMID:23615299|PMID:24307393|PMID:25590979|PMID:25741868|PMID:25900396|PMID:26467025|PMID:26576034|PMID:27358180|PMID:27568816|PMID:28492532|PMID:29693785|PMID:32860008|PMID:33144681|PMID:34008892 1561931 Nexmif neurite extension and migration factor gene DOID:1059 intellectual disability ISO RGD:1603497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1561931 Nexmif neurite extension and migration factor gene DOID:12849 autistic disorder ISO RGD:1603497 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561931 Nexmif neurite extension and migration factor gene DOID:1826 epilepsy ISO RGD:1603497 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1561931 Nexmif neurite extension and migration factor gene DOID:630 genetic disease ISO RGD:1603497 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:26467025|PMID:27358180|PMID:27568816|PMID:28492532|PMID:32860008 1561931 Nexmif neurite extension and migration factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603497 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1561932 Cfap144 cilia and flagella associated protein 144 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2299984 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1561932 Cfap144 cilia and flagella associated protein 144 gene DOID:630 genetic disease ISO RGD:2299984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561932 Cfap144 cilia and flagella associated protein 144 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:2299984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 1561933 Blnk B-cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:7240710 20130221 OMIM 1561933 Blnk B-cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098 1561933 Blnk B-cell linker gene DOID:2583 agammaglobulinemia ISO RGD:1347273 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1561933 Blnk B-cell linker gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1347273 D RGD:1600518|PMID:10583958 20070312 RGD DNA:splice-site mutation 1561933 Blnk B-cell linker gene DOID:630 genetic disease ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561934 Tp53tg5 TP53 target 5 gene DOID:2234 focal epilepsy ISO RGD:1350426 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1561934 Tp53tg5 TP53 target 5 gene DOID:630 genetic disease ISO RGD:1350426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561934 Tp53tg5 TP53 target 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350426 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1561937 Lsm6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1345160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1561940 Ranbp9 RAN binding protein 9 gene DOID:630 genetic disease ISO RGD:1344686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561942 Ccdc112 coiled-coil domain containing 112 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561942 Ccdc112 coiled-coil domain containing 112 gene DOID:12849 autistic disorder ISO RGD:1606143 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1561942 Ccdc112 coiled-coil domain containing 112 gene DOID:630 genetic disease ISO RGD:1606143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561942 Ccdc112 coiled-coil domain containing 112 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606143 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561942 Ccdc112 coiled-coil domain containing 112 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561950 Zfp286a zinc finger protein 286A gene DOID:630 genetic disease ISO RGD:1350825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561953 Coro2b coronin 2B gene DOID:0080600 COVID-19 ISO RGD:1352370 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561953 Coro2b coronin 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1561953 Coro2b coronin 2B gene DOID:2717 Bloom syndrome ISO RGD:1352370 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1561953 Coro2b coronin 2B gene DOID:630 genetic disease ISO RGD:1352370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561953 Coro2b coronin 2B gene DOID:9256 colorectal cancer ISO RGD:1352370 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1561954 Wasf1 WASP family member 1 gene DOID:0080600 COVID-19 ISO RGD:1343996 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1561954 Wasf1 WASP family member 1 gene DOID:1059 intellectual disability ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:29961568|PMID:32581362 1561954 Wasf1 WASP family member 1 gene DOID:630 genetic disease ISO RGD:1343996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561954 Wasf1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:7240710 20220323 OMIM 1561954 Wasf1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures PMID:25741868|PMID:29961568|PMID:32581362 1561954 Wasf1 WASP family member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1343996 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:29961568|PMID:32581362 1561955 Dgkh diacylglycerol kinase, eta gene DOID:630 genetic disease ISO RGD:1352279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561955 Dgkh diacylglycerol kinase, eta gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:0111942 immunodeficiency 25 ISO RGD:1350946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:12336 male infertility ISO RGD:1350946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1350946 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:630 genetic disease ISO RGD:1350946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:1350946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1350946 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1561961 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350946 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561962 Evi5l ecotropic viral integration site 5-like gene DOID:0080490 mucolipidosis type IV ISO RGD:1347720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1561962 Evi5l ecotropic viral integration site 5-like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347720 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1561962 Evi5l ecotropic viral integration site 5-like gene DOID:630 genetic disease ISO RGD:1347720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561963 Dock10 dedicator of cytokinesis 10 gene DOID:630 genetic disease ISO RGD:1348168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561963 Dock10 dedicator of cytokinesis 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1561963 Dock10 dedicator of cytokinesis 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348168 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561965 Usp10 ubiquitin specific peptidase 10 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1352341 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1561965 Usp10 ubiquitin specific peptidase 10 gene DOID:5419 schizophrenia ISO RGD:1352341 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1561965 Usp10 ubiquitin specific peptidase 10 gene DOID:630 genetic disease ISO RGD:1352341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561967 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1561967 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319461 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1561967 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:630 genetic disease ISO RGD:1319461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561967 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319461 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1561972 Kash5 KASH domain containing 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1561972 Kash5 KASH domain containing 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602065 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1561972 Kash5 KASH domain containing 5 gene DOID:14227 azoospermia ISO RGD:1602065 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1561972 Kash5 KASH domain containing 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602065 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1561972 Kash5 KASH domain containing 5 gene DOID:630 genetic disease ISO RGD:1602065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0050777 Joubert syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604889 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:1826 epilepsy ISO RGD:1604889 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:1604889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561978 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1561980 Surf4 surfeit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322534 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322534 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:3652 Leigh disease ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1561980 Surf4 surfeit 4 gene DOID:630 genetic disease ISO RGD:1322534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561980 Surf4 surfeit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1561981 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:0111947 immunodeficiency 21 ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 1561981 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:630 genetic disease ISO RGD:1343992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561981 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:2322343|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:29146883|PMID:29724903|PMID:31710708 1561981 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9270 alkaptonuria ISO RGD:1343992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050127 sinusitis ISO RGD:1347084 D RGD:5131192|PMID:17063754 20110422 RGD protein:increased secretion:sinus mucus 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:21506741|PMID:21506748|PMID:23321605|PMID:23692170|PMID:23695349|PMID:23940607|PMID:24033266|PMID:25741868|PMID:25926289|PMID:28492532|PMID:30345907 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis susceptibility ISO RGD:1347084 D RGD:7240710 20230505 OMIM 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1347084 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1347084 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:1623927 D RGD:7364762|PMID:23272068 20130926 RGD 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1347084 D RGD:7349395|PMID:14690056 20130924 RGD mRNA:increased expression:middle ear 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1623927 D RGD:7349405|PMID:22539951 20130924 RGD associated with CHARGE Syndrome 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:11054 urinary bladder cancer ISO RGD:1347084 D RGD:7349339|PMID:19191526 20130919 RGD DNA:repeats 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347084 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:5131191|PMID:17255563 20110422 RGD 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:5131194|PMID:11845304 20110422 RGD protein:altered glycosylation:saliva 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1347084 D RGD:5131252|PMID:11802783 20110426 RGD protein:altered expression:sputum 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1623927 D RGD:7364763|PMID:11587997 20130926 RGD 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:2942 bronchiolitis ISO RGD:1347084 D RGD:7349353|PMID:15709052 20110422 RGD DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human) 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347084 D RGD:5131169|PMID:18776153 20110421 RGD protein:increased expression:sputum 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347084 D RGD:2324986|PMID:7657125 20100526 RGD mRNA:increased expression:pancreas 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1347084 D RGD:2324948|PMID:11680592 20100526 RGD mRNA:decreased expression:bile duct 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:630 genetic disease ISO RGD:1347084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1347084 D RGD:7349353|PMID:15709052 20130920 RGD DNA:insertion/deletion 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1347084 D RGD:7364744|PMID:16540890 20130925 RGD mRNA:increased expression:middle ear 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1623927 D RGD:7364764|PMID:22336013 20130926 RGD mRNA:decreased expression:ear 1561983 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9261 nasopharynx carcinoma IEP D RGD:2325214|PMID:19068094 20130926 RGD 1561985 Dtna dystrobrevin, alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:1580893|PMID:11238270 19990101 RGD 1561985 Dtna dystrobrevin, alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 1561985 Dtna dystrobrevin, alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 1561985 Dtna dystrobrevin, alpha gene DOID:1059 intellectual disability ISO RGD:1343196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1561985 Dtna dystrobrevin, alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:31568572 1561985 Dtna dystrobrevin, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1343196 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 1561985 Dtna dystrobrevin, alpha gene DOID:630 genetic disease ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1561985 Dtna dystrobrevin, alpha gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21520333|PMID:25741868|PMID:28492532 1561985 Dtna dystrobrevin, alpha gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532 1561985 Dtna dystrobrevin, alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:7240710 20180425 OMIM 1561985 Dtna dystrobrevin, alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:11238270|PMID:16199547|PMID:17576681|PMID:21520333|PMID:23861362|PMID:24033266|PMID:25305078|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29118297|PMID:29247119|PMID:30086531|PMID:31568572|PMID:32746448|PMID:33500567|PMID:33789662|PMID:35148685|PMID:9536098 1561985 Dtna dystrobrevin, alpha gene DOID:9849 Meniere's disease ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078|PMID:25741868|PMID:28492532 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:1351997 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:1351997 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:1351997 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:1351997 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:1351997 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:1351997 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1351997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351997 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351997 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 1561988 Mcc MCC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:1351997 D RGD:7240710 20200226 OMIM 1561991 Plch1 phospholipase C, eta 1 gene DOID:630 genetic disease ISO RGD:1349228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561991 Plch1 phospholipase C, eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:7240710 20220608 OMIM 1561991 Plch1 phospholipase C, eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 14 PMID:33820834 1561992 Sytl3 synaptotagmin-like 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1352944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1561992 Sytl3 synaptotagmin-like 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1352944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1561992 Sytl3 synaptotagmin-like 3 gene DOID:630 genetic disease ISO RGD:1352944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561995 Agbl3 AGBL carboxypeptidase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604170 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1561995 Agbl3 AGBL carboxypeptidase 3 gene DOID:630 genetic disease ISO RGD:1604170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1561997 Mageb4 MAGE family member B4 gene DOID:12849 autistic disorder ISO RGD:1351509 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562000 Vwa2 von Willebrand factor A domain containing 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1603244 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:1059 intellectual disability ISO RGD:1323692 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:12712 nephronophthisis ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:630 genetic disease ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:1323692 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653|PMID:9536098 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:30886832|PMID:31263571|PMID:31548401|PMID:32963463|PMID:33193653|PMID:9536098 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323692 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1323692 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532|PMID:29546405 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer ISO RGD:1323692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 1562001 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323692 D RGD:7240710 20200226 OMIM 1562003 Bean1 brain expressed, associated with NEDD4, 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:7240710 20190315 OMIM 1562003 Bean1 brain expressed, associated with NEDD4, 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:19878914 1562003 Bean1 brain expressed, associated with NEDD4, 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:4144982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1562003 Bean1 brain expressed, associated with NEDD4, 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:4144982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1562003 Bean1 brain expressed, associated with NEDD4, 1 gene DOID:630 genetic disease ISO RGD:4144982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:12402331|PMID:16086329|PMID:16088892|PMID:16141001|PMID:17576681|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:7240710 20140903 OMIM 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2B PMID:17576681|PMID:21965549|PMID:24033266|PMID:25741868|PMID:27114410|PMID:28492532|PMID:30391667|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1605644 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:12402331|PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25525159|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:10907 microcephaly ISO RGD:1605644 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1605644 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605644 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28492532|PMID:29261186|PMID:30561787|PMID:30755224|PMID:31628608|PMID:31831025|PMID:9398847|PMID:9398848|PMID:9536098 1562004 Gatad1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31628608|PMID:31831025|PMID:32203225|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 1562006 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1562006 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:1540 parathyroid carcinoma ISO RGD:1604579 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562006 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:630 genetic disease ISO RGD:1604579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562006 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604579 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562008 Cul9 cullin 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1562008 Cul9 cullin 9 gene DOID:630 genetic disease ISO RGD:1604392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562008 Cul9 cullin 9 gene DOID:905 Zellweger syndrome ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1562009 Edc4 enhancer of mRNA decapping 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1562009 Edc4 enhancer of mRNA decapping 4 gene DOID:630 genetic disease ISO RGD:1606564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562010 Ssuh2 ssu-2 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532 1562010 Ssuh2 ssu-2 homolog gene DOID:0060255 rippling muscle disease 2 ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rippling muscle disease 2 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 1562010 Ssuh2 ssu-2 homolog gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 1562010 Ssuh2 ssu-2 homolog gene DOID:0110650 long QT syndrome 9 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 1562010 Ssuh2 ssu-2 homolog gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 1562010 Ssuh2 ssu-2 homolog gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 1562010 Ssuh2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098 1562010 Ssuh2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 1562010 Ssuh2 ssu-2 homolog gene DOID:630 genetic disease ISO RGD:1603044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562010 Ssuh2 ssu-2 homolog gene DOID:701 dentin dysplasia ISS RGD:1557646 D RGD:13592920 20180518 MouseDO OMIM:125400 | OMIM:125420 1562010 Ssuh2 ssu-2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603044 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562010 Ssuh2 ssu-2 homolog gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1562012 Lyrm9 LYR motif containing 9 gene DOID:5409 lung small cell carcinoma ISO RGD:3210028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1562012 Lyrm9 LYR motif containing 9 gene DOID:630 genetic disease ISO RGD:3210028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562017 Lrrc40 leucine rich repeat containing 40 gene DOID:1059 intellectual disability ISO RGD:1601993 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1562017 Lrrc40 leucine rich repeat containing 40 gene DOID:630 genetic disease ISO RGD:1601993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562018 Tmem260 transmembrane protein 260 gene DOID:0060060 non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:155882447|PMID:24831772 20230118 RGD DNA:SNP: 3'UTR:rs4901706 (human) 1562018 Tmem260 transmembrane protein 260 gene DOID:0081312 T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:155882447|PMID:24831772 20230118 RGD DNA:SNP: 3'UTR:rs4901706 (human) 1562018 Tmem260 transmembrane protein 260 gene DOID:10534 stomach cancer susceptibility ISO RGD:1354503 D RGD:155882453|PMID:27602096 20230119 RGD DNA:SNP: 3'UTR:rs4901706 (human) 1562018 Tmem260 transmembrane protein 260 gene DOID:630 genetic disease ISO RGD:1354503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562018 Tmem260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:7240710 20190315 OMIM 1562018 Tmem260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: Type I truncus arteriosus PMID:25741868|PMID:28318500|PMID:28492532|PMID:32860008|PMID:34612517 1562022 Cybc1 cytochrome b-245 chaperone 1 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:7240710 20200722 OMIM 1562022 Cybc1 cytochrome b-245 chaperone 1 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 PMID:17576681|PMID:28492532|PMID:28600779|PMID:30312704|PMID:30361506|PMID:9536098 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0080918 polymicrogyria ISO RGD:1606911 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:29706646 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606911 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:630 genetic disease ISO RGD:1606911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562025 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606911 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562027 Poglut3 protein O-glucosyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1347684 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562027 Poglut3 protein O-glucosyltransferase 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1347684 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1562027 Poglut3 protein O-glucosyltransferase 3 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1347684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 1562027 Poglut3 protein O-glucosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1347684 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562027 Poglut3 protein O-glucosyltransferase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347684 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562028 Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:25741868|PMID:26467025|PMID:28492532 1562028 Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 1562028 Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1346481 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1562034 Cep41 centrosomal protein 41 gene DOID:0050777 Joubert syndrome ISO RGD:1346248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 1562034 Cep41 centrosomal protein 41 gene DOID:0060041 autism spectrum disorder ISO RGD:1346248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21438139 1562034 Cep41 centrosomal protein 41 gene DOID:0060041 autism spectrum disorder ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Autism Spectrum Disorder PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 1562034 Cep41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:7240710 20140911 OMIM 1562034 Cep41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 15 PMID:16199547|PMID:17576681|PMID:20301500|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:29588463|PMID:30664616|PMID:9536098 1562034 Cep41 centrosomal protein 41 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1346248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 1562034 Cep41 centrosomal protein 41 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346248 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562034 Cep41 centrosomal protein 41 gene DOID:630 genetic disease ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22246503|PMID:25741868|PMID:28492532 1562034 Cep41 centrosomal protein 41 gene DOID:9250 acrocallosal syndrome ISO RGD:1346248 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic PMID:22246503|PMID:28492532 1562037 Jcad junctional cadherin 5 associated gene DOID:3393 coronary artery disease ISO RGD:1346091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378988 1562037 Jcad junctional cadherin 5 associated gene DOID:630 genetic disease ISO RGD:1346091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050795 cone dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:28041643|PMID:28492532|PMID:30718709 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:7240710 20130221 OMIM 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:17033974|PMID:24033266|PMID:25741868|PMID:26002053|PMID:26218913|PMID:26560832|PMID:28041643|PMID:28492532|PMID:30718709 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:2843 long QT syndrome ISO RGD:1346782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:630 genetic disease ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:8501 fundus dystrophy ISO RGD:1346782 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346782 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1562038 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1346782 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17033974|PMID:24033266|PMID:26560832|PMID:28041643|PMID:28492532 1562041 Rnf130 ring finger protein 130 gene DOID:630 genetic disease ISO RGD:1343865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562041 Rnf130 ring finger protein 130 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1562042 Stag2 STAG2 cohesin complex component gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343297 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 1562042 Stag2 STAG2 cohesin complex component gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1343297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 1562042 Stag2 STAG2 cohesin complex component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343297 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562042 Stag2 STAG2 cohesin complex component gene DOID:0080333 aortic valve disease 1 ISO RGD:1343297 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868 1562042 Stag2 STAG2 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 1562042 Stag2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:7240710 20190424 OMIM 1562042 Stag2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder PMID:25741868|PMID:28296084|PMID:28492532|PMID:29263825|PMID:30158690|PMID:30765867|PMID:31334757|PMID:33619735 1562042 Stag2 STAG2 cohesin complex component gene DOID:11054 urinary bladder cancer ISO RGD:1343297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121789|PMID:24121791|PMID:24121792 1562042 Stag2 STAG2 cohesin complex component gene DOID:12849 autistic disorder ISO RGD:1343297 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562042 Stag2 STAG2 cohesin complex component gene DOID:2671 transitional cell carcinoma ISO RGD:1343297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 1562042 Stag2 STAG2 cohesin complex component gene DOID:630 genetic disease ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562042 Stag2 STAG2 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1343297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 1562042 Stag2 STAG2 cohesin complex component gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1343297 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 1562042 Stag2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:7240710 20200429 OMIM 1562042 Stag2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked | ClinVar Annotator: match by term: STAG2-related condition PMID:25741868|PMID:28296084|PMID:28492532|PMID:31334757 1562043 Cldn24 claudin 24 gene DOID:630 genetic disease ISO RGD:3378218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562044 Zfp583 zinc finger protein 583 gene DOID:630 genetic disease ISO RGD:1350167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562045 Apcdd1l APC down-regulated 1 like gene DOID:630 genetic disease ISO RGD:1605849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562046 Agk acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23266196 1562046 Agk acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:7240710 20141015 OMIM 1562046 Agk acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sengers syndrome PMID:15168109|PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:22415731|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:28868593|PMID:31303091|PMID:34948281|PMID:3560758|PMID:9536098 1562046 Agk acylglycerol kinase gene DOID:0080690 RASopathy ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1562046 Agk acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:7240710 20140911 OMIM 1562046 Agk acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: Cataract 38 PMID:17576681|PMID:22415731|PMID:24088041|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:9536098 1562046 Agk acylglycerol kinase gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1352363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593 1562046 Agk acylglycerol kinase gene DOID:630 genetic disease ISO RGD:1352363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22415731|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532 1562046 Agk acylglycerol kinase gene DOID:83 cataract ISO RGD:1352363 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract 1562047 Cks2 CDC28 protein kinase regulatory subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1348782 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562047 Cks2 CDC28 protein kinase regulatory subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1562048 St6galnac1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349671 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:7240710 20130221 OMIM 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked dystonia-parkinsonism PMID:17273961|PMID:25741868|PMID:28492532 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1349671 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:12849 autistic disorder ISO RGD:1349671 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:1682 congenital heart disease ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26637982|PMID:28492532|PMID:32396742|PMID:33098347 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:32396742 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349671 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:26637982 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:7240710 20190315 OMIM 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability PMID:17576681|PMID:25741868|PMID:26637982|PMID:28492532|PMID:29302074|PMID:31646703|PMID:31985533|PMID:32396742|PMID:33098347|PMID:9536098 1562050 Taf1 TATA-box binding protein associated factor 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1562052 Nsl1 NSL1 component of MIS12 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1345295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562052 Nsl1 NSL1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1345295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562052 Nsl1 NSL1 component of MIS12 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345295 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562056 Marveld3 MARVEL domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1562056 Marveld3 MARVEL domain containing 3 gene DOID:630 genetic disease ISO RGD:1347121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562057 Frmd7 FERM domain containing 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352948 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562057 Frmd7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19892780 1562057 Frmd7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:7240710 20130221 OMIM 1562057 Frmd7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked PMID:16020310|PMID:17013395|PMID:17768376|PMID:17962394|PMID:18087240|PMID:19072571|PMID:21303855|PMID:21746984|PMID:23020937|PMID:25678693|PMID:25741868|PMID:25916882|PMID:27081518|PMID:28492532|PMID:30025138|PMID:30942644 1562057 Frmd7 FERM domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1352948 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562057 Frmd7 FERM domain containing 7 gene DOID:630 genetic disease ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26268155|PMID:28492532 1562057 Frmd7 FERM domain containing 7 gene DOID:8501 fundus dystrophy ISO RGD:1352948 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1562059 Them5 thioesterase superfamily member 5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1562059 Them5 thioesterase superfamily member 5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1562059 Them5 thioesterase superfamily member 5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1562059 Them5 thioesterase superfamily member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1601923 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562059 Them5 thioesterase superfamily member 5 gene DOID:5812 MHC class II deficiency ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1562059 Them5 thioesterase superfamily member 5 gene DOID:630 genetic disease ISO RGD:1601923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562059 Them5 thioesterase superfamily member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601923 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562062 Irag2 inositol 1,4,5-triphosphate receptor associated 2 gene DOID:630 genetic disease ISO RGD:1343006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562064 Otol1 otolin 1 gene DOID:630 genetic disease ISO RGD:4140314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562066 Or9a2 olfactory receptor family 9 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:1348029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562071 Sla2 Src-like-adaptor 2 gene DOID:2234 focal epilepsy ISO RGD:1320351 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1562071 Sla2 Src-like-adaptor 2 gene DOID:630 genetic disease ISO RGD:1320351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562074 Tmem151b transmembrane protein 151B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1562074 Tmem151b transmembrane protein 151B gene DOID:630 genetic disease ISO RGD:1350981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562075 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345155 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562075 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0112043 non-syndromic X-linked intellectual disability 91 ISO RGD:1345155 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 91 PMID:15915161|PMID:25741868 1562075 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:10965 spastic diplegia ISO RGD:1345155 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Spastic diplegia 1562075 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:12849 autistic disorder ISO RGD:1345155 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562075 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:630 genetic disease ISO RGD:1345155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0050476 Barth syndrome ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0050800 creatine transporter deficiency ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349782 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349782 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0112003 immunodeficiency 33 ISO RGD:1349782 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:10588 adrenoleukodystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:12849 autistic disorder ISO RGD:1349782 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:13628 favism ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:2729 dyskeratosis congenita ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:607 paraplegia ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:630 genetic disease ISO RGD:1349782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562076 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:9002720 Splenomegaly ISO RGD:1349782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:2307455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2307455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:2307455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:8725 vascular dementia ISO RGD:2307455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19465911 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:7240710 20210203 OMIM 1562079 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 PMID:12112045|PMID:16737791|PMID:19465911|PMID:22995659|PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:31130284|PMID:33162331 1562084 Tmem266 transmembrane protein 266 gene DOID:2717 Bloom syndrome ISO RGD:1351477 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562084 Tmem266 transmembrane protein 266 gene DOID:5419 schizophrenia ISO RGD:1351477 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562084 Tmem266 transmembrane protein 266 gene DOID:630 genetic disease ISO RGD:1351477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562084 Tmem266 transmembrane protein 266 gene DOID:9256 colorectal cancer ISO RGD:1351477 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562089 Fam83f family with sequence similarity 83, member F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1562089 Fam83f family with sequence similarity 83, member F gene DOID:14228 oligospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oligozoospermia PMID:25741868 1562089 Fam83f family with sequence similarity 83, member F gene DOID:630 genetic disease ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1562089 Fam83f family with sequence similarity 83, member F gene DOID:9002321 Teratozoospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868 1562091 Ppm1n protein phosphatase, Mg2+/Mn2+ dependent 1N gene DOID:630 genetic disease ISO RGD:1604993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562092 Rfx4 regulatory factor X4 gene DOID:630 genetic disease ISO RGD:1354416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562095 Ppp1r1c protein phosphatase 1, regulatory (inhibitor) subunit 1C gene DOID:630 genetic disease ISO RGD:1351328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562099 Nuggc nuclear GTPase, germinal center associated gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1562099 Nuggc nuclear GTPase, germinal center associated gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1562099 Nuggc nuclear GTPase, germinal center associated gene DOID:630 genetic disease ISO RGD:1626574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30976395|PMID:31736247|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:28492532|PMID:28951997|PMID:30303587 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1318161 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318161 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:21569298|PMID:24033266|PMID:28492532 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110827 Usher syndrome type 2 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24123792|PMID:25741868|PMID:26226137|PMID:28492532|PMID:29924869|PMID:30245029|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1318161 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:7240710 20130221 OMIM 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:10234513|PMID:14740321|PMID:15671307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18854872|PMID:19357116|PMID:19357117|PMID:20440071|PMID:21569298|PMID:21946352|PMID:22135276|PMID:22147658|PMID:22334370|PMID:22952768|PMID:23441107|PMID:23767834|PMID:23934111|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25404053|PMID:25412400|PMID:25468891|PMID:25741868|PMID:25741869|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27108799|PMID:27460420|PMID:27575413|PMID:27884173|PMID:28041643|PMID:28492532|PMID:29142287|PMID:29261713|PMID:29907799|PMID:30029497|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32707200|PMID:32747562|PMID:32860008|PMID:32962041|PMID:33089500|PMID:33105617|PMID:35802133|PMID:35813073|PMID:36633841|PMID:9536098 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:7240710 20131030 OMIM 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4 PMID:12402266|PMID:14740321|PMID:15671307|PMID:16199547|PMID:18414213|PMID:19357117|PMID:22135276|PMID:22147658|PMID:22334370|PMID:24033266|PMID:24498627|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26467025|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30180840|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:1318161 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26667666|PMID:28492532|PMID:30029497|PMID:30718709|PMID:32467589 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:1826 epilepsy ISO RGD:1318161 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24033266|PMID:28492532 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:22135276|PMID:24033266|PMID:24123792|PMID:28492532|PMID:30245029 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:3633 beta-mannosidosis ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:630 genetic disease ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:8501 fundus dystrophy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:23462753|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25412400|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589|PMID:32581362 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:14740321|PMID:15671307|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:27460420|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318161 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:32467589 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562101 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9849 Meniere's disease ISO RGD:1318161 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1562103 Rgs13 regulator of G-protein signaling 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1604849 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562103 Rgs13 regulator of G-protein signaling 13 gene DOID:630 genetic disease ISO RGD:1604849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562103 Rgs13 regulator of G-protein signaling 13 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1604849 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 1562103 Rgs13 regulator of G-protein signaling 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604849 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562105 Arhgap25 Rho GTPase activating protein 25 gene DOID:630 genetic disease ISO RGD:1351716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562112 Foxp3 forkhead box P3 gene DOID:0050200 Korean hemorrhagic fever IEP D RGD:2325989|PMID:17878294 20200908 RGD mRNA:increased expression:lung 1562112 Foxp3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1348507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 1562112 Foxp3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1348507 D RGD:38456007|PMID:23797717 20200810 RGD 1562112 Foxp3 forkhead box P3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348507 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562112 Foxp3 forkhead box P3 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348507 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24258212|PMID:25741868|PMID:28492532 1562112 Foxp3 forkhead box P3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348507 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1562112 Foxp3 forkhead box P3 gene DOID:0081267 graft-versus-host disease treatment IEP D RGD:38599140|PMID:22344929 20200909 RGD 1562112 Foxp3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:27783946 1562112 Foxp3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:1598959|PMID:11137992 20070108 RGD DNA:mutations:multiple (human) 1562112 Foxp3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:7240710 20151209 OMIM 1562112 Foxp3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:10706361|PMID:11120765|PMID:11137992|PMID:11137993|PMID:11295725|PMID:11768393|PMID:12161590|PMID:14671208|PMID:15096376|PMID:16199547|PMID:16630773|PMID:16741580|PMID:16920951|PMID:17576681|PMID:17586580|PMID:17635943|PMID:18414213|PMID:18795917|PMID:18820676|PMID:18931102|PMID:18951619|PMID:19189134|PMID:19471859|PMID:19633572|PMID:20537998|PMID:20650610|PMID:21036387|PMID:22000569|PMID:22581967|PMID:22590469|PMID:23313429|PMID:24033266|PMID:24250806|PMID:24258212|PMID:24792626|PMID:24916357|PMID:24982679|PMID:25326164|PMID:25363768|PMID:25546394|PMID:25741868|PMID:25911531|PMID:26467025|PMID:26661331|PMID:26748374|PMID:26748735|PMID:27167055|PMID:28289675|PMID:28492532|PMID:28778586|PMID:28783662|PMID:28993341|PMID:29193502|PMID:29241729|PMID:29896738|PMID:29907148|PMID:30191644|PMID:30293990|PMID:30385752|PMID:30443250|PMID:30510991|PMID:30805323|PMID:30894704|PMID:31027649|PMID:31130284|PMID:31990476|PMID:32279225|PMID:32531870|PMID:33046911|PMID:33194927|PMID:33523441|PMID:33637067|PMID:33833438|PMID:34216291|PMID:9536098 1562112 Foxp3 forkhead box P3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348507 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1562112 Foxp3 forkhead box P3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1562112 Foxp3 forkhead box P3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1562112 Foxp3 forkhead box P3 gene DOID:106 pleural tuberculosis disease_progression ISO RGD:1348507 D RGD:36947878|PMID:21303360 20200805 RGD associated with human immunodeficiency virus infectious disease; 1562112 Foxp3 forkhead box P3 gene DOID:10763 hypertension treatment IEP D RGD:38549366|PMID:24420551 20200831 RGD 1562112 Foxp3 forkhead box P3 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1348507 D RGD:38501104|PMID:31177386 20200818 RGD DNA:SNP::rs3761548(human) 1562112 Foxp3 forkhead box P3 gene DOID:11168 anogenital venereal wart ISO RGD:1348507 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 1562112 Foxp3 forkhead box P3 gene DOID:11263 chlamydia treatment ISO RGD:1348507 D RGD:38455984|PMID:30832593 20200807 RGD 1562112 Foxp3 forkhead box P3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1562112 Foxp3 forkhead box P3 gene DOID:1205 allergic disease ISO RGD:1348507 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:27965764 1562112 Foxp3 forkhead box P3 gene DOID:12236 primary biliary cholangitis ISO RGD:1348507 D RGD:38501106|PMID:17158635 20200818 RGD mRNA:increased expression:liver 1562112 Foxp3 forkhead box P3 gene DOID:12365 malaria ISO RGD:1348507 D RGD:38455985|PMID:19338000 20200807 RGD 1562112 Foxp3 forkhead box P3 gene DOID:12365 malaria disease_progression ISO RGD:1348507 D RGD:38455992|PMID:16169501 20200807 RGD 1562112 Foxp3 forkhead box P3 gene DOID:12849 autistic disorder ISO RGD:1348507 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562112 Foxp3 forkhead box P3 gene DOID:1459 hypothyroidism treatment IEP D RGD:38549578|PMID:29896255 20200902 RGD 1562112 Foxp3 forkhead box P3 gene DOID:1883 hepatitis C ISO RGD:1348507 D RGD:38456005|PMID:17414718 20200810 RGD mRNA:increased expression:liver 1562112 Foxp3 forkhead box P3 gene DOID:2043 hepatitis B ISO RGD:1348507 D RGD:38548919|PMID:21086571 20200824 RGD associated with hepatocellular carcinoma; protein:increased expression:liver 1562112 Foxp3 forkhead box P3 gene DOID:2355 anemia ISO RGD:1348507 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 1562112 Foxp3 forkhead box P3 gene DOID:2723 dermatitis ISO RGD:1557838 D RGD:38549359|PMID:22466646 20200831 RGD 1562112 Foxp3 forkhead box P3 gene DOID:2799 bronchiolitis obliterans IEP D RGD:4889978|PMID:19840961 20200908 RGD mRNA:increased expression:lung 1562112 Foxp3 forkhead box P3 gene DOID:2841 asthma ISO RGD:1348507 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:27965764|PMID:29317916 1562112 Foxp3 forkhead box P3 gene DOID:2841 asthma treatment IEP D RGD:38549365|PMID:28944907 20200831 RGD 1562112 Foxp3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1557838 D RGD:38548920|PMID:27633092 20200824 RGD 1562112 Foxp3 forkhead box P3 gene DOID:289 endometriosis severity ISO RGD:1348507 D RGD:38501099|PMID:22541024 20200818 RGD 1562112 Foxp3 forkhead box P3 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348507 D RGD:38501101|PMID:29020928 20200818 RGD DNA:polymorphism:promoter:-924A>G(human) 1562112 Foxp3 forkhead box P3 gene DOID:321 tropical spastic paraparesis ISO RGD:1348507 D RGD:38549361|PMID:20945034 20200831 RGD mRNA:decreased expression: T cell 1562112 Foxp3 forkhead box P3 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1348507 D RGD:38456004|PMID:28101786 20200810 RGD 1562112 Foxp3 forkhead box P3 gene DOID:3298 vaccinia ISO RGD:1557838 D RGD:36947870|PMID:20548030 20200805 RGD 1562112 Foxp3 forkhead box P3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1348507 D RGD:38455996|PMID:28086903 20200807 RGD 1562112 Foxp3 forkhead box P3 gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1348507 D RGD:38456003|PMID:25483347 20200810 RGD mRNA:increased expression:peripheral blood: 1562112 Foxp3 forkhead box P3 gene DOID:4166 syphilis treatment ISO RGD:1348507 D RGD:38456006|PMID:27284313 20200810 RGD 1562112 Foxp3 forkhead box P3 gene DOID:4404 occupational dermatitis ISO RGD:1348507 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 1562112 Foxp3 forkhead box P3 gene DOID:4928 intrahepatic cholangiocarcinoma IDA D RGD:38599002|PMID:24291052 20200908 RGD DNA:hypomethylation:liver 1562112 Foxp3 forkhead box P3 gene DOID:630 genetic disease ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562112 Foxp3 forkhead box P3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348507 D RGD:38548919|PMID:21086571 20200824 RGD protein:increased expression:liver 1562112 Foxp3 forkhead box P3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20476861 1562112 Foxp3 forkhead box P3 gene DOID:8568 infectious mononucleosis disease_progression ISO RGD:1348507 D RGD:38501103|PMID:23628056 20200818 RGD 1562112 Foxp3 forkhead box P3 gene DOID:874 bacterial pneumonia severity ISO RGD:1557838 D RGD:38501102|PMID:25398094 20200818 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:38549580|PMID:30287503 20200902 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:14975101|PMID:27498708 20200831 RGD mRNA:increased expression:mucosa: 1562112 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:38455995|PMID:17229795 20200807 RGD protein:increased expression:colon: 1562112 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment IDA D RGD:38549362|PMID:28733028 20200831 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557838 D RGD:38455994|PMID:26925602 20200807 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1348507 D RGD:38549358|PMID:21489307 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: 1562112 Foxp3 forkhead box P3 gene DOID:9000310 Lung Injury ISO RGD:1348507 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28630656 1562112 Foxp3 forkhead box P3 gene DOID:9000509 Epstein-Barr Virus Infections susceptibility ISO RGD:1348507 D RGD:38548918|PMID:18246047 20200824 RGD associated with adult T-cell leukemia; 1562112 Foxp3 forkhead box P3 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1348507 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868 1562112 Foxp3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis severity IEP D RGD:38549573|PMID:28892130 20200902 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:13702882|PMID:19907173 20200909 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9002457 Experimental Arthritis IEP D RGD:38599003|PMID:23643080 20200908 RGD mRNA,protein:decreased expression:lung 1562112 Foxp3 forkhead box P3 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:38549364|PMID:29264841 20200831 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9002780 Recurrent Respiratory Papillomatosis susceptibility ISO RGD:1348507 D RGD:38549360|PMID:28298239 20200831 RGD DNA:SNPs:promoter:rs5902434,rs2232365 (human) 1562112 Foxp3 forkhead box P3 gene DOID:9003040 Squamous Intraepithelial Lesions of the Cervix severity ISO RGD:1348507 D RGD:38501104|PMID:31177386 20200818 RGD DNA:SNP::rs3761548(human) 1562112 Foxp3 forkhead box P3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348507 D RGD:38548921|PMID:18673437 20200824 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1348507 D RGD:38456005|PMID:17414718 20200810 RGD mRNA:increased expression:liver 1562112 Foxp3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1557838 D RGD:38599144|PMID:21199671 20200909 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1557838 D RGD:38549577|PMID:28457422 20200902 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9004484 Sepsis severity ISO RGD:1348507 D RGD:38455982|PMID:25403265 20200806 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9004656 Airway Remodeling treatment ISO RGD:1557838 D RGD:38548920|PMID:27633092 20200824 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1557838 D RGD:38501105|PMID:21923716 20200818 RGD mRNA:decreased expression:placenta: 1562112 Foxp3 forkhead box P3 gene DOID:9005172 Lung Neoplasms ISO RGD:1348507 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 1562112 Foxp3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:38599142|PMID:18328191 20200909 RGD mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node 1562112 Foxp3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:38599143|PMID:32341701 20200909 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9005930 Endotoxemia IEP D RGD:38455980|PMID:19998507 20200806 RGD protein:increased expression:intestinal mucosa 1562112 Foxp3 forkhead box P3 gene DOID:9005968 Neuralgia IEP D RGD:38599004|PMID:30858084 20200908 RGD mRNA:increased expression: L4-L5 of the spinal cord 1562112 Foxp3 forkhead box P3 gene DOID:9005968 Neuralgia treatment ISO RGD:1557838 D RGD:38599004|PMID:30858084 20200908 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:38549576|PMID:30464413 20200902 RGD protein:decreased expression:sciatic nerve 1562112 Foxp3 forkhead box P3 gene DOID:9007204 Dysbiosis treatment IEP D RGD:38549571|PMID:32227764 20200902 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:38548921|PMID:18673437 20200824 RGD 1562112 Foxp3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:38549358|PMID:21489307 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: 1562112 Foxp3 forkhead box P3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:11137992|PMID:11295725|PMID:16920951|PMID:22590469|PMID:25546394|PMID:25741868|PMID:28492532|PMID:28778586|PMID:28783662|PMID:30293990|PMID:30443250|PMID:31130284|PMID:33637067 1562112 Foxp3 forkhead box P3 gene DOID:9008861 Wound Infection severity IEP D RGD:38599139|PMID:22141756 20200909 RGD associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid: 1562112 Foxp3 forkhead box P3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17570480 1562112 Foxp3 forkhead box P3 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1348507 D RGD:38455981|PMID:29205403 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: 1562112 Foxp3 forkhead box P3 gene DOID:9169 Wiskott-Aldrich syndrome ISS RGD:1557838 D RGD:13592920 20180518 MouseDO OMIM:301000 | OMIM:614493 1562112 Foxp3 forkhead box P3 gene DOID:9256 colorectal cancer ISO RGD:1348507 D RGD:38599002|PMID:24291052 20200908 RGD DNA:hypomethylation:colorectum 1562112 Foxp3 forkhead box P3 gene DOID:9351 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11137993|PMID:23313429|PMID:25741868|PMID:28492532|PMID:29193502|PMID:33194927|PMID:33523441 1562112 Foxp3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20161206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 1562112 Foxp3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348507 D RGD:1598959|PMID:11137992 20090427 RGD associated with Autoimmune Diseases;DNA:mutations: :multiple (human) 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:0050440 familial partial lipodystrophy ISO RGD:1354006 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:7240710 20140911 OMIM 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS PMID:18654663|PMID:20049731|PMID:25741868 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:2843 long QT syndrome ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:3042 allergic contact dermatitis ISO RGD:1354006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:630 genetic disease ISO RGD:1354006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354006 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1562113 Cidec cell death-inducing DFFA-like effector c gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1354006 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1562114 Fam174c family with sequence similarity 174 member C gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1562114 Fam174c family with sequence similarity 174 member C gene DOID:5339 cyclic hematopoiesis ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1562115 Tafa5 TAFA chemokine like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1342880 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 1562115 Tafa5 TAFA chemokine like family member 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1342880 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1562115 Tafa5 TAFA chemokine like family member 5 gene DOID:1059 intellectual disability ISO RGD:1342880 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562119 Primpol primase and DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1605846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562119 Primpol primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:7240710 20190315 OMIM 1562119 Primpol primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Myopia 22, autosomal dominant PMID:23579484 1562123 Zfp462 zinc finger protein 462 gene DOID:0060224 atrial fibrillation ISO RGD:1352850 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1562123 Zfp462 zinc finger protein 462 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1352850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:25741868 1562123 Zfp462 zinc finger protein 462 gene DOID:1059 intellectual disability ISO RGD:1352850 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562123 Zfp462 zinc finger protein 462 gene DOID:14320 generalized anxiety disorder ISS RGD:1318312 D RGD:13592920 20181004 MouseDO 1562123 Zfp462 zinc finger protein 462 gene DOID:1826 epilepsy ISO RGD:1352850 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1562123 Zfp462 zinc finger protein 462 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352850 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 1562123 Zfp462 zinc finger protein 462 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352850 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1562123 Zfp462 zinc finger protein 462 gene DOID:630 genetic disease ISO RGD:1352850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31616000 1562123 Zfp462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:7240710 20191127 OMIM 1562123 Zfp462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532|PMID:28513610|PMID:31361404 1562123 Zfp462 zinc finger protein 462 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1352850 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:28513610 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0050476 Barth syndrome ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0080600 COVID-19 ISO RGD:1352747 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352747 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:25741868 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352747 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:10190819|PMID:12175782|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:17285533|PMID:20195870|PMID:20661612|PMID:21068741|PMID:21700483|PMID:21966424|PMID:23419472|PMID:23566833|PMID:25741868|PMID:26260157|PMID:26454440|PMID:27928321|PMID:28492532|PMID:7825602|PMID:7849723|PMID:8040304|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9553942 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16319717|PMID:17602313|PMID:22057157 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:7240710 20130221 OMIM 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980539|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:12175782|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15284851|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16672758|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19892975|PMID:20008255|PMID:20195870|PMID:20301491|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:22483867|PMID:22914231|PMID:23154058|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23566848|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:24154795|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25118695|PMID:25275259|PMID:25741868|PMID:26227820|PMID:26260157|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27934597|PMID:28089346|PMID:28456143|PMID:28492532|PMID:28503596|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29284317|PMID:29443243|PMID:29557549|PMID:30069915|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31777199|PMID:32003821|PMID:32207279|PMID:32954314|PMID:33920672|PMID:34008892|PMID:34946879|PMID:35196747|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9894883 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10369742|PMID:10480214|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980309|PMID:10980539|PMID:11063720|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:11968085|PMID:12175782|PMID:12402273|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15192815|PMID:15284851|PMID:15333254|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16427346|PMID:16601897|PMID:16672758|PMID:16684786|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17372139|PMID:17498713|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18206987|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19234479|PMID:19325113|PMID:19396829|PMID:19496984|PMID:19592040|PMID:19660195|PMID:19846429|PMID:19892975|PMID:19963315|PMID:20008255|PMID:20195870|PMID:20228476|PMID:20301491|PMID:20376793|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20730588|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21264817|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22045812|PMID:22176151|PMID:22189598|PMID:22198747|PMID:22280810|PMID:22281021|PMID:22366764|PMID:22382802|PMID:22479560|PMID:22483867|PMID:22687851|PMID:22914231|PMID:23009600|PMID:23154058|PMID:23300730|PMID:23409742|PMID:23419472|PMID:23430809|PMID:23469258|PMID:23566833|PMID:23566848|PMID:23651979|PMID:23660394|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:23864971|PMID:23926373|PMID:24154795|PMID:24365856|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:24962355|PMID:25118695|PMID:25275259|PMID:25324868|PMID:25741868|PMID:25835273|PMID:25835712|PMID:25999754|PMID:26227820|PMID:26260157|PMID:26266984|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26471271|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27779215|PMID:27928321|PMID:27934597|PMID:28086082|PMID:28089346|PMID:28216041|PMID:28456143|PMID:28481932|PMID:28492532|PMID:28503596|PMID:28601575|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29056270|PMID:29284317|PMID:29334594|PMID:29443243|PMID:29557549|PMID:29950168|PMID:30069915|PMID:30544401|PMID:30564185|PMID:30658899|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31452695|PMID:31526374|PMID:31777199|PMID:32003821|PMID:32047678|PMID:32101828|PMID:32207279|PMID:32307584|PMID:32954314|PMID:33151932|PMID:33247909|PMID:33359056|PMID:33547378|PMID:33920672|PMID:34008892|PMID:34012265|PMID:34302356|PMID:34946879|PMID:35053399|PMID:35076462|PMID:35196747|PMID:35466195|PMID:35535697|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8889593|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9384614|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9551465|PMID:9553942|PMID:9556301|PMID:9584268|PMID:9846054|PMID:9894883 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy susceptibility ISO RGD:1352747 D RGD:1598655|PMID:8048932 20061209 RGD 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:1059 intellectual disability ISO RGD:1352747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31316545|PMID:35535697 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1352747 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:13628 favism ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:13774 Addison's disease ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary adrenocortical insufficiency PMID:10190819|PMID:11248239|PMID:11748843|PMID:12530690|PMID:12624723|PMID:14767898|PMID:15032602|PMID:15811009|PMID:16087056|PMID:17542813|PMID:17990484|PMID:21476988|PMID:21700483|PMID:21966424|PMID:22479560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581394|PMID:7668254|PMID:8040304|PMID:8651290|PMID:8773611 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:607 paraplegia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190819|PMID:10227685|PMID:10480364|PMID:10737980|PMID:10980309|PMID:11438993|PMID:11748843|PMID:12175782|PMID:12402273|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:16199547|PMID:16415970|PMID:16949688|PMID:17285533|PMID:17372139|PMID:17542813|PMID:19129531|PMID:19325113|PMID:20661612|PMID:20800589|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21700483|PMID:21889498|PMID:21966424|PMID:22045812|PMID:22189598|PMID:22280810|PMID:22479560|PMID:22483867|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23864971|PMID:24154795|PMID:24719134|PMID:24920594|PMID:25275259|PMID:25324868|PMID:25741868|PMID:26227820|PMID:26266984|PMID:26454440|PMID:26467025|PMID:27928321|PMID:28086082|PMID:28216041|PMID:28481932|PMID:28492532|PMID:28708278|PMID:28991658|PMID:29056270|PMID:30069915|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31526374|PMID:32003821|PMID:32047678|PMID:32101828|PMID:33247909|PMID:33920672|PMID:34946879|PMID:35053399|PMID:7581394|PMID:7668254|PMID:7717396|PMID:7825602|PMID:7849723|PMID:8535452|PMID:8566952|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9242200|PMID:9425230|PMID:9553942|PMID:9712540|PMID:9846054 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9002720 Splenomegaly ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352747 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic gait PMID:21966424|PMID:22479560|PMID:25741868|PMID:26454440|PMID:28481932|PMID:28492532|PMID:31104286|PMID:8535452|PMID:9242200|PMID:9846054 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352747 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1562128 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9588 encephalitis ISO RGD:1352747 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Encephalitis PMID:11748843|PMID:16199547|PMID:25741868|PMID:28492532 1562129 Zfp398 zinc finger protein 398 gene DOID:630 genetic disease ISO RGD:1345407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562135 Fam185a family with sequence similarity 185, member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601709 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562135 Fam185a family with sequence similarity 185, member A gene DOID:630 genetic disease ISO RGD:1601709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562136 Macir macrophage immunometabolism regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562136 Macir macrophage immunometabolism regulator gene DOID:0080600 COVID-19 ISO RGD:1602449 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562136 Macir macrophage immunometabolism regulator gene DOID:3068 glioblastoma ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602449 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562136 Macir macrophage immunometabolism regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562136 Macir macrophage immunometabolism regulator gene DOID:9007188 Liver Neoplasms ISO RGD:1602449 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562136 Macir macrophage immunometabolism regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1602449 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 1562137 Lonrf2 LON peptidase N-terminal domain and ring finger 2 gene DOID:630 genetic disease ISO RGD:1604220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562142 Hoxb6 homeo box B6 gene DOID:630 genetic disease ISO RGD:1602502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562149 Map3k9 mitogen-activated protein kinase kinase kinase 9 gene DOID:1909 melanoma ISO RGD:1352186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 1562149 Map3k9 mitogen-activated protein kinase kinase kinase 9 gene DOID:630 genetic disease ISO RGD:1352186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348660 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:12849 autistic disorder ISO RGD:1348660 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562161 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348660 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562168 Rbp7 retinol binding protein 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1562168 Rbp7 retinol binding protein 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1562168 Rbp7 retinol binding protein 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1348730 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1562168 Rbp7 retinol binding protein 7 gene DOID:630 genetic disease ISO RGD:1348730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562172 Spry3 sprouty RTK signaling antagonist 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349769 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1562172 Spry3 sprouty RTK signaling antagonist 3 gene DOID:12849 autistic disorder ISO RGD:1349769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:30208311 1562172 Spry3 sprouty RTK signaling antagonist 3 gene DOID:3070 high grade glioma ISO RGD:1349769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:29276006 1562172 Spry3 sprouty RTK signaling antagonist 3 gene DOID:9002720 Splenomegaly ISO RGD:1349769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1562173 Zpr1 ZPR1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1323503 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562173 Zpr1 ZPR1 zinc finger gene DOID:630 genetic disease ISO RGD:1323503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562173 Zpr1 ZPR1 zinc finger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323503 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562173 Zpr1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:7240710 20210623 OMIM 1562173 Zpr1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies PMID:29851065 1562173 Zpr1 ZPR1 zinc finger gene DOID:9007661 Dwarfism ISO RGD:1323503 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1562174 Fnip2 folliculin interacting protein 2 gene DOID:630 genetic disease ISO RGD:2292121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562174 Fnip2 folliculin interacting protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:12121120 D RGD:9068941 20210604 OMIA Hypomyelination of the central nervous system PMID:20973788|PMID:24272703|PMID:3577694|PMID:676669|PMID:731520 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603696 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:1059 intellectual disability ISO RGD:1603696 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:5419 schizophrenia ISO RGD:1603696 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:630 genetic disease ISO RGD:1603696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603696 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:7240710 20190315 OMIM 1562176 Ncapd3 non-SMC condensin II complex, subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive PMID:25741868|PMID:27737959 1562179 Defb44 defensin beta 44 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307453 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 1562179 Defb44 defensin beta 44 gene DOID:630 genetic disease ISO RGD:2307453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562179 Defb44 defensin beta 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307453 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1557732 D RGD:155226882|PMID:10574770 20220920 RGD 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:0050545 visceral heterotaxy ISO RGD:2289769 D RGD:155226879|PMID:11062482 20220920 RGD DNA:missense mutation:exon:334C>T (p.R112C)(human) 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:0050545 visceral heterotaxy ISO RGD:2289769 D RGD:155226881|PMID:25423076 20221116 RGD DNA:CNVs::2q21.1 (human) 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:0050545 visceral heterotaxy ISS RGD:1557732 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:0060770 dextro-looped transposition of the great arteries ISS RGD:1557732 D RGD:13592920 20210930 MouseDO 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:0060856 right atrial isomerism ISS RGD:1557732 D RGD:13592920 20180518 MouseDO OMIM:208530 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:6406 double outlet right ventricle ISS RGD:1557732 D RGD:13592920 20180518 MouseDO OMIM:217095 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:6419 tetralogy of Fallot ISO RGD:2289769 D RGD:155226880|PMID:24479926 20220920 RGD DNA:hypermethylation:promoter: 1562188 Cfc1 cripto, FRL-1, cryptic family 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289769 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562189 Ccdc14 coiled-coil domain containing 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1562189 Ccdc14 coiled-coil domain containing 14 gene DOID:630 genetic disease ISO RGD:1348740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562189 Ccdc14 coiled-coil domain containing 14 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 1562189 Ccdc14 coiled-coil domain containing 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348740 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1562189 Ccdc14 coiled-coil domain containing 14 gene DOID:9270 alkaptonuria ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:23472171|PMID:25741868|PMID:32979048 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:7240710 20140911 OMIM 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:18414213|PMID:20972249|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:32979048 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:1059 intellectual disability ISO RGD:1343936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26544806|PMID:28492532 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2717 Bloom syndrome ISO RGD:1343936 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:607 paraplegia ISO RGD:1343936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:18414213|PMID:21620353|PMID:21937992|PMID:23472171|PMID:25167861|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942|PMID:32979048|PMID:9536098 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:630 genetic disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:870 neuropathy ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:7240710 20190315 OMIM 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 1 PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1343936 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1562199 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1343936 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1346226 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:13938 amenorrhea ISO RGD:1346226 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:1700 X-linked ichthyosis ISO RGD:1346226 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:1969 cerebral palsy ISO RGD:1346226 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1346226 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:543 dystonia ISO RGD:1346226 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:630 genetic disease ISO RGD:1346226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562200 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346226 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562206 Supt7l SPT7 like, STAGA complex subunit gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1562206 Supt7l SPT7 like, STAGA complex subunit gamma gene DOID:630 genetic disease ISO RGD:1602227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562211 Usp51 ubiquitin specific peptidase 51 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603172 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562211 Usp51 ubiquitin specific peptidase 51 gene DOID:12849 autistic disorder ISO RGD:1603172 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562211 Usp51 ubiquitin specific peptidase 51 gene DOID:630 genetic disease ISO RGD:1603172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562211 Usp51 ubiquitin specific peptidase 51 gene DOID:9007661 Dwarfism ISO RGD:1603172 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1562212 Mfsd9 major facilitator superfamily domain containing 9 gene DOID:630 genetic disease ISO RGD:1606209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562213 Ucn3 urocortin 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352070 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1562213 Ucn3 urocortin 3 gene DOID:5419 schizophrenia ISO RGD:1352070 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562213 Ucn3 urocortin 3 gene DOID:630 genetic disease ISO RGD:1352070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562213 Ucn3 urocortin 3 gene DOID:850 lung disease ISO RGD:1352070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16855006 1562213 Ucn3 urocortin 3 gene DOID:9005372 Inflammation ISO RGD:1352070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16855006 1562214 Dcp1b decapping mRNA 1B gene DOID:2843 long QT syndrome ISO RGD:1348381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1562214 Dcp1b decapping mRNA 1B gene DOID:630 genetic disease ISO RGD:1348381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562214 Dcp1b decapping mRNA 1B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348381 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1562218 C19h1orf131 similar to human chromosome 1 open reading frame 131 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1605298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 1562218 C19h1orf131 similar to human chromosome 1 open reading frame 131 gene DOID:1540 parathyroid carcinoma ISO RGD:1605298 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562218 C19h1orf131 similar to human chromosome 1 open reading frame 131 gene DOID:630 genetic disease ISO RGD:1605298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562218 C19h1orf131 similar to human chromosome 1 open reading frame 131 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1562218 C19h1orf131 similar to human chromosome 1 open reading frame 131 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605298 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562220 Rasgef1b RasGEF domain family, member 1B gene DOID:0080600 COVID-19 ISO RGD:1348873 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562220 Rasgef1b RasGEF domain family, member 1B gene DOID:630 genetic disease ISO RGD:1348873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562220 Rasgef1b RasGEF domain family, member 1B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1562220 Rasgef1b RasGEF domain family, member 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1562221 Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 gene DOID:1059 intellectual disability ISO RGD:1351849 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562221 Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 gene DOID:11934 head and neck cancer ISO RGD:1351849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:28492532|PMID:32266149 1562221 Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 gene DOID:12271 aniridia ISO RGD:1351849 D RGD:8554872 20171128 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1562221 Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1351849 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 1562221 Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1351849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562221 Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 gene DOID:9002455 Aniridia 1 ISO RGD:1351849 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 1562228 Coa4 cytochrome c oxidase assembly factor 4 homolog gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1562228 Coa4 cytochrome c oxidase assembly factor 4 homolog gene DOID:1059 intellectual disability ISO RGD:1602710 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562228 Coa4 cytochrome c oxidase assembly factor 4 homolog gene DOID:630 genetic disease ISO RGD:1602710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562229 C14h2orf73 similar to human chromosome 2 open reading frame 73 gene DOID:630 genetic disease ISO RGD:1603909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562230 Ctnna3 catenin alpha 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 1562230 Ctnna3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:7240710 20140911 OMIM 1562230 Ctnna3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:16199547|PMID:17576681|PMID:21254927|PMID:22421363|PMID:23136403|PMID:23375656|PMID:25050139|PMID:25640679|PMID:25741868|PMID:27231342|PMID:27535533|PMID:28202948|PMID:28416588|PMID:28492532|PMID:29544605|PMID:30847666|PMID:32880476|PMID:33497884|PMID:33789662|PMID:9536098 1562230 Ctnna3 catenin alpha 3 gene DOID:11054 urinary bladder cancer ISO RGD:1320341 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 1562230 Ctnna3 catenin alpha 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320341 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1562230 Ctnna3 catenin alpha 3 gene DOID:2841 asthma ISO RGD:1320341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19187332 1562230 Ctnna3 catenin alpha 3 gene DOID:2843 long QT syndrome ISO RGD:1320341 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28416588|PMID:28492532 1562230 Ctnna3 catenin alpha 3 gene DOID:303 substance-related disorder ISO RGD:1320341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1562230 Ctnna3 catenin alpha 3 gene DOID:630 genetic disease ISO RGD:1320341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562230 Ctnna3 catenin alpha 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320341 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 1562230 Ctnna3 catenin alpha 3 gene DOID:9000727 Syncope ISO RGD:1320341 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Syncope 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:30401917|PMID:35112477|PMID:9536098 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:11535957|PMID:23033313 20160923 RGD DNA:mutations:exon, intron:multiple 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:11535958|PMID:11950863 20160923 RGD DNA:frameshift mutations, missense mutation, splice-site mutation:multiple 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:11535960|PMID:21729220 20160923 RGD DNA:deletion:exon:c.2183delG (human) 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:11535966|PMID:16397067 20160926 RGD DNA:frameshift mutations, missense mutation, nonsense mutation:multiple 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:11535968|PMID:18177199 20160926 RGD DNA:missense mutation:exon:243C>G (H81Q) (human) 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:7240710 20130425 OMIM 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:11179005|PMID:11950863|PMID:12595504|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26275793|PMID:26467025|PMID:27081566|PMID:28492532|PMID:28973083|PMID:9198060|PMID:9482645|PMID:9536098 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0060373 orofaciodigital syndrome III ISO RGD:1348587 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0080205 CAKUT ISO RGD:1348587 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:7240710 20130221 OMIM 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 PMID:11179005|PMID:12595504|PMID:16783569|PMID:19800048|PMID:22353940|PMID:23033313|PMID:25741868|PMID:28492532|PMID:30401917|PMID:33847015|PMID:35112477 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0080918 polymicrogyria ISO RGD:1348587 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:7240710 20170726 OMIM 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 23 PMID:10892847|PMID:22619378|PMID:25741868|PMID:28492532|PMID:35112477 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348587 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:27081566|PMID:28289185|PMID:28492532|PMID:9536098 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16783569|PMID:18546297|PMID:25741868|PMID:27081566|PMID:28492532 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:11535963|PMID:19800048 20160923 RGD DNA:deletions:exon:c.2841_2847del, c.2767del (human) 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:11535965|PMID:16783569 20160923 RGD DNA:duplication:exon:2122-2125dup (human) 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:7240710 20130221 OMIM 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 10 PMID:16783569|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26092869|PMID:27081566|PMID:28492532|PMID:30401917|PMID:35112477 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0111589 COACH syndrome ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome PMID:16783569|PMID:18546297|PMID:27081566|PMID:28492532 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1348587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16783569 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12919139|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:10584 retinitis pigmentosa ISO RGD:1348587 D RGD:11535961|PMID:22619378 20160923 RGD DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:1059 intellectual disability ISO RGD:1348587 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:12849 autistic disorder ISO RGD:1348587 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:630 genetic disease ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:65 connective tissue disease ISO RGD:1348587 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:8466 retinal degeneration IEP D RGD:11535964|PMID:27196396 20160923 RGD mRNA, protein:decreased expression:retina 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:8501 fundus dystrophy ISO RGD:1348587 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1348587 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348587 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:9007284 Precocious Puberty ISO RGD:1348587 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 1562231 Ofd1 Ofd1 centriole and centriolar satellite protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11179005|PMID:12595504|PMID:18414213|PMID:25741868|PMID:26467025|PMID:26477546|PMID:28492532|PMID:31373179 1562232 Mfap1a microfibrillar-associated protein 1A gene DOID:2717 Bloom syndrome ISO RGD:1321226 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562232 Mfap1a microfibrillar-associated protein 1A gene DOID:630 genetic disease ISO RGD:1321226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562232 Mfap1a microfibrillar-associated protein 1A gene DOID:9256 colorectal cancer ISO RGD:1321226 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562236 Lratd2 LRAT domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606136 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1562236 Lratd2 LRAT domain containing 2 gene DOID:630 genetic disease ISO RGD:1606136 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562239 Spag11b sperm associated antigen 11b gene DOID:630 genetic disease ISO RGD:1352554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562243 Fbxl2 F-box and leucine-rich repeat protein 2 gene DOID:630 genetic disease ISO RGD:736852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562244 Sestd1 SEC14 and spectrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562244 Sestd1 SEC14 and spectrin domain containing 1 gene DOID:9004657 Weight Gain ISO RGD:1349123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1562245 Trex2 three prime repair exonuclease 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562245 Trex2 three prime repair exonuclease 2 gene DOID:0050476 Barth syndrome ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562245 Trex2 three prime repair exonuclease 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562245 Trex2 three prime repair exonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1562245 Trex2 three prime repair exonuclease 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354135 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1562245 Trex2 three prime repair exonuclease 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562245 Trex2 three prime repair exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1354135 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562245 Trex2 three prime repair exonuclease 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562245 Trex2 three prime repair exonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1354135 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562245 Trex2 three prime repair exonuclease 2 gene DOID:13628 favism ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1562245 Trex2 three prime repair exonuclease 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1562245 Trex2 three prime repair exonuclease 2 gene DOID:607 paraplegia ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562245 Trex2 three prime repair exonuclease 2 gene DOID:630 genetic disease ISO RGD:1354135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562245 Trex2 three prime repair exonuclease 2 gene DOID:9002720 Splenomegaly ISO RGD:1354135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1562245 Trex2 three prime repair exonuclease 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5490977|PMID:20973890 20110921 RGD 1562246 Gins1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:7240710 20190315 OMIM 1562246 Gins1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency PMID:25741868|PMID:28414293|PMID:28492532|PMID:31630891 1562246 Gins1 GINS complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562246 Gins1 GINS complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605108 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1562249 Zbtb8os zinc finger and BTB domain containing 8 opposite strand gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1562249 Zbtb8os zinc finger and BTB domain containing 8 opposite strand gene DOID:630 genetic disease ISO RGD:1603245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562251 Ccdc69 coiled-coil domain containing 69 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562251 Ccdc69 coiled-coil domain containing 69 gene DOID:630 genetic disease ISO RGD:1603313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562251 Ccdc69 coiled-coil domain containing 69 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2301592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:1059 intellectual disability ISO RGD:2301592 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:2301592 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:630 genetic disease ISO RGD:2301592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2301592 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562252 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1562253 Wnt16 Wnt family member 16 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345805 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562253 Wnt16 Wnt family member 16 gene DOID:630 genetic disease ISO RGD:1345805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:7240710 20130731 OMIM 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 5 PMID:14985390|PMID:23022101|PMID:23849777|PMID:24033266|PMID:25741868|PMID:28512736 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1347981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12719380|PMID:19029900 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:634487|PMID:12719380 19990101 RGD DNA:nonsense mutation:exon (mouse) 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:630 genetic disease ISO RGD:1347981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562254 Hydin Hydin, axonemal central pair apparatus protein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347981 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 1562257 Klhdc7b kelch domain containing 7B gene DOID:0060041 autism spectrum disorder ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1562257 Klhdc7b kelch domain containing 7B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1602443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1562257 Klhdc7b kelch domain containing 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602443 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1562257 Klhdc7b kelch domain containing 7B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1602443 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1562257 Klhdc7b kelch domain containing 7B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1602443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1562257 Klhdc7b kelch domain containing 7B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1602443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1562257 Klhdc7b kelch domain containing 7B gene DOID:1059 intellectual disability ISO RGD:1602443 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562257 Klhdc7b kelch domain containing 7B gene DOID:630 genetic disease ISO RGD:1602443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562258 Ino80b INO80 complex subunit B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1562258 Ino80b INO80 complex subunit B gene DOID:543 dystonia ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1562258 Ino80b INO80 complex subunit B gene DOID:630 genetic disease ISO RGD:1347975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562258 Ino80b INO80 complex subunit B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1562262 Cep250 centrosomal protein 250 gene DOID:0050439 Usher syndrome ISO RGD:1347521 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24780881|PMID:25741868 1562262 Cep250 centrosomal protein 250 gene DOID:10584 retinitis pigmentosa ISS RGD:1618420 D RGD:13592920 20190912 MouseDO 1562262 Cep250 centrosomal protein 250 gene DOID:630 genetic disease ISO RGD:1347521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562262 Cep250 centrosomal protein 250 gene DOID:8501 fundus dystrophy ISO RGD:1347521 D RGD:8554872 20200519 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28005958|PMID:28492532 1562262 Cep250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:7240710 20190424 OMIM 1562262 Cep250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797|PMID:30459346|PMID:30998843 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:0060180 colitis ISO RGD:1557544 D RGD:5508755|PMID:20921147 20111020 RGD 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:10457 Legionnaires' disease ISO RGD:1557544 D RGD:5131443|PMID:20685341 20110427 RGD 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:2841 asthma ISO RGD:1344653 D RGD:5131518|PMID:15718249 20110502 RGD DNA:insertion:cds: 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:2841 asthma susceptibility ISO RGD:1344653 D RGD:5131519|PMID:16918516 20110502 RGD DNA:SNP: :rs2075817 (human) 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:4483 rhinitis ISO RGD:1344653 D RGD:5131446|PMID:20384614 20110427 RGD mRNA:decreased expression:nose 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344653 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1344653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:863 nervous system disease ISO RGD:1344653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:874 bacterial pneumonia ISO RGD:1557544 D RGD:5131449|PMID:19360122 20110427 RGD 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557544 D RGD:9831166|PMID:23028889 20150227 RGD 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344653 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562269 Nod1 nucleotide-binding oligomerization domain containing 1 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1344653 D RGD:5131519|PMID:16918516 20110502 RGD DNA:SNP: :rs2075817 (human) 1562276 Ccdc92b coiled-coil domain containing 92B gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:10449362 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 1562278 Gsg1l GSG1-like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1562278 Gsg1l GSG1-like gene DOID:630 genetic disease ISO RGD:1604995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562279 Astl astacin like metalloendopeptidase gene DOID:1059 intellectual disability ISO RGD:1349169 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562279 Astl astacin like metalloendopeptidase gene DOID:5419 schizophrenia ISO RGD:1349169 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562279 Astl astacin like metalloendopeptidase gene DOID:630 genetic disease ISO RGD:1349169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562279 Astl astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:7240710 20211222 OMIM 1562279 Astl astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 11 PMID:34704130 1562283 C1h10orf120 similar to human chromosome 10 open reading frame 120 gene DOID:2340 craniosynostosis ISO RGD:1604915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1562283 C1h10orf120 similar to human chromosome 10 open reading frame 120 gene DOID:630 genetic disease ISO RGD:1604915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562284 Qpct glutaminyl-peptide cyclotransferase gene DOID:0080690 RASopathy ISO RGD:735639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1562284 Qpct glutaminyl-peptide cyclotransferase gene DOID:1909 melanoma ISO RGD:735639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 1562284 Qpct glutaminyl-peptide cyclotransferase gene DOID:3042 allergic contact dermatitis ISO RGD:735639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1562284 Qpct glutaminyl-peptide cyclotransferase gene DOID:630 genetic disease ISO RGD:735639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562284 Qpct glutaminyl-peptide cyclotransferase gene DOID:813 septic arthritis ISO RGD:735640 D RGD:41410433|PMID:23204180 20210210 RGD 1562284 Qpct glutaminyl-peptide cyclotransferase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 1562291 Foxn2 forkhead box N2 gene DOID:0080600 COVID-19 ISO RGD:1343664 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1562291 Foxn2 forkhead box N2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1343664 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 1562291 Foxn2 forkhead box N2 gene DOID:630 genetic disease ISO RGD:1343664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562291 Foxn2 forkhead box N2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343664 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 1562292 Hoxb5 homeo box B5 gene DOID:630 genetic disease ISO RGD:1342680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562292 Hoxb5 homeo box B5 gene DOID:9970 obesity ISO RGD:1342680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484627 1562294 Zfp202 zinc finger protein 202 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1562294 Zfp202 zinc finger protein 202 gene DOID:5419 schizophrenia ISO RGD:1353784 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562294 Zfp202 zinc finger protein 202 gene DOID:630 genetic disease ISO RGD:1353784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562294 Zfp202 zinc finger protein 202 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353784 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562294 Zfp202 zinc finger protein 202 gene DOID:9007661 Dwarfism ISO RGD:1353784 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1562305 Sbsn suprabasin gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1562305 Sbsn suprabasin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1562305 Sbsn suprabasin gene DOID:543 dystonia ISO RGD:1602809 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1562305 Sbsn suprabasin gene DOID:630 genetic disease ISO RGD:1602809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562307 Spsb4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1603370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562307 Spsb4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1562313 Tcp11l1 t-complex 11 like 1 gene DOID:1059 intellectual disability ISO RGD:1602322 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562313 Tcp11l1 t-complex 11 like 1 gene DOID:630 genetic disease ISO RGD:1602322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562314 Tas2r144 taste receptor, type 2, member 144 gene DOID:630 genetic disease ISO RGD:1351253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562317 Mfsd6 major facilitator superfamily domain containing 6 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1562317 Mfsd6 major facilitator superfamily domain containing 6 gene DOID:630 genetic disease ISO RGD:1603217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562317 Mfsd6 major facilitator superfamily domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603217 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562321 Gzf1 GDNF-inducible zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1318777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562321 Gzf1 GDNF-inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:7240710 20190315 OMIM 1562321 Gzf1 GDNF-inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joint laxity, short stature, and myopia PMID:25741868|PMID:28475863|PMID:28492532|PMID:35802133|PMID:36633841 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:10907 microcephaly ISO RGD:1347280 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1287 cardiovascular system disease ISO RGD:1347280 D RGD:155882462|PMID:19006206 20230123 RGD DNA:splice-site mutation:cds:IVS26+5G>A (human) 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:155882462|PMID:19006206 20230123 RGD DNA:splice-site mutation:cds:IVS26+5G>A (human) 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:155882463|PMID:21711208 20230123 RGD DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human) 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:7240710 20130221 OMIM 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Johanson-Blizzard syndrome PMID:16311597|PMID:18553553|PMID:19006206|PMID:23778732|PMID:24033266|PMID:24599544|PMID:25741868|PMID:28492532 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1936 atherosclerosis ISO RGD:1347280 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:2717 Bloom syndrome ISO RGD:1347280 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:630 genetic disease ISO RGD:1347280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24599544|PMID:26989884|PMID:28492532 1562326 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:9256 colorectal cancer ISO RGD:1347280 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562327 Zbtb8b zinc finger and BTB domain containing 8b gene DOID:630 genetic disease ISO RGD:2307066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562331 Rspo2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:7240710 20190605 OMIM 1562331 Rspo2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 2 PMID:25741868|PMID:28492532|PMID:29769720 1562331 Rspo2 R-spondin 2 gene DOID:630 genetic disease ISO RGD:1603855 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562331 Rspo2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:7240710 20190717 OMIM 1562331 Rspo2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency PMID:25741868|PMID:28492532|PMID:29769720 1562332 Apol9a apolipoprotein L 9a gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1562332 Apol9a apolipoprotein L 9a gene DOID:0080600 COVID-19 ISO RGD:1343358 D RGD:9068941 20220107 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562332 Apol9a apolipoprotein L 9a gene DOID:5419 schizophrenia ISO RGD:1343358 D RGD:7240710 20220105 OMIM 1562332 Apol9a apolipoprotein L 9a gene DOID:630 genetic disease ISO RGD:1343358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562332 Apol9a apolipoprotein L 9a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1623802 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1562333 Mreg melanoregulin gene DOID:630 genetic disease ISO RGD:1604338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562333 Mreg melanoregulin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604338 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562334 Ccdc63 coiled-coil domain containing 63 gene DOID:1909 melanoma ISO RGD:1604733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1562334 Ccdc63 coiled-coil domain containing 63 gene DOID:630 genetic disease ISO RGD:1604733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562335 Fam193b family with sequence similarity 193, member B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1562335 Fam193b family with sequence similarity 193, member B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562335 Fam193b family with sequence similarity 193, member B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1562335 Fam193b family with sequence similarity 193, member B gene DOID:630 genetic disease ISO RGD:1601757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562335 Fam193b family with sequence similarity 193, member B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601757 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1562337 Mier1 MIER1 transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1605649 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1562337 Mier1 MIER1 transcriptional regulator gene DOID:630 genetic disease ISO RGD:1605649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562339 C11h3orf70 similar to human chromosome 3 open reading frame 70 gene DOID:0111546 Currarino syndrome ISO RGD:1605238 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1562339 C11h3orf70 similar to human chromosome 3 open reading frame 70 gene DOID:630 genetic disease ISO RGD:1605238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562339 C11h3orf70 similar to human chromosome 3 open reading frame 70 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1562343 Mageb3 MAGE family member B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353042 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562343 Mageb3 MAGE family member B3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1353042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 1562343 Mageb3 MAGE family member B3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1353042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 1562343 Mageb3 MAGE family member B3 gene DOID:12849 autistic disorder ISO RGD:1353042 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562343 Mageb3 MAGE family member B3 gene DOID:630 genetic disease ISO RGD:1353042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562343 Mageb3 MAGE family member B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353042 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562344 Bcl2l15 Bcl2-like 15 gene DOID:0080690 RASopathy ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1562344 Bcl2l15 Bcl2-like 15 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1562344 Bcl2l15 Bcl2-like 15 gene DOID:630 genetic disease ISO RGD:1603456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562346 Hist2h2be histone cluster 2 H2B family member E gene DOID:630 genetic disease ISO RGD:1348596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1607057 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33909992 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1607057 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:630 genetic disease ISO RGD:1607057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1607057 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:7240710 20211020 OMIM 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chopra-Amiel-Gordon syndrome PMID:25741868|PMID:29758562|PMID:33909992 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:9005466 Language Development Disorders ISO RGD:1607057 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Speech delay PMID:25741868 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:1607057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868 1562348 Ankrd17 ankyrin repeat domain 17 gene DOID:9266 cystinuria ISO RGD:1607057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1604364 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1604364 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:7240710 20140903 OMIM 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 PMID:18439546|PMID:25741868|PMID:28492532 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:630 genetic disease ISO RGD:1604364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604364 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562350 Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562351 Tmem243 transmembrane protein 243 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349104 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562351 Tmem243 transmembrane protein 243 gene DOID:630 genetic disease ISO RGD:1349104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562356 Sntn sentan, cilia apical structure protein gene DOID:630 genetic disease ISO RGD:2306150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562358 Tmem225 transmembrane protein 225 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1562358 Tmem225 transmembrane protein 225 gene DOID:5419 schizophrenia ISO RGD:1605235 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562358 Tmem225 transmembrane protein 225 gene DOID:630 genetic disease ISO RGD:1605235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562358 Tmem225 transmembrane protein 225 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605235 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562358 Tmem225 transmembrane protein 225 gene DOID:9007661 Dwarfism ISO RGD:1605235 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1562365 Mageb16 MAGE family member B16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353190 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562365 Mageb16 MAGE family member B16 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353190 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1562365 Mageb16 MAGE family member B16 gene DOID:12849 autistic disorder ISO RGD:1353190 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562365 Mageb16 MAGE family member B16 gene DOID:630 genetic disease ISO RGD:1353190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562365 Mageb16 MAGE family member B16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353190 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562365 Mageb16 MAGE family member B16 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353190 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1562369 Satb2 SATB homeobox 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1343440 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 1562369 Satb2 SATB homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343440 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1562369 Satb2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:7240710 20141015 OMIM 1562369 Satb2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-Related Disorder PMID:16199547|PMID:17377962|PMID:17576681|PMID:21343628|PMID:23788249|PMID:23925499|PMID:24301056|PMID:24884844|PMID:25118029|PMID:25251319|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27774744|PMID:28135719|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28708303|PMID:28787087|PMID:29023086|PMID:29436146|PMID:29987015|PMID:30575289|PMID:31021519|PMID:31302918|PMID:31849593|PMID:32581362|PMID:33004838|PMID:33624935|PMID:9536098 1562369 Satb2 SATB homeobox 2 gene DOID:0110213 isolated cleft palate ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 1562369 Satb2 SATB homeobox 2 gene DOID:0110213 isolated cleft palate ISS RGD:1558379 D RGD:13592920 20180518 MouseDO OMIM:119540 1562369 Satb2 SATB homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28151491|PMID:28492532|PMID:29023086 1562369 Satb2 SATB homeobox 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1562369 Satb2 SATB homeobox 2 gene DOID:543 dystonia ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 1562369 Satb2 SATB homeobox 2 gene DOID:630 genetic disease ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12915443|PMID:17576681|PMID:18187506|PMID:21089028|PMID:24884844|PMID:25326635|PMID:25356970|PMID:25533962|PMID:25662172|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27409069|PMID:27462121|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:29436146|PMID:30575289|PMID:31021519|PMID:31302918|PMID:32581362|PMID:9536098 1562369 Satb2 SATB homeobox 2 gene DOID:674 cleft palate ISO RGD:1343440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16960803|PMID:19170718 1562369 Satb2 SATB homeobox 2 gene DOID:674 cleft palate ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28492532|PMID:29023086 1562369 Satb2 SATB homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343440 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562369 Satb2 SATB homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26780400 1562369 Satb2 SATB homeobox 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29987015|PMID:31849593 1562369 Satb2 SATB homeobox 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343440 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1562369 Satb2 SATB homeobox 2 gene DOID:9008582 Developmental Disease ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1562369 Satb2 SATB homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16960803 1562370 Ccdc103 coiled-coil domain containing 103 gene DOID:0050144 Kartagener syndrome ISO RGD:1602038 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22581229 1562370 Ccdc103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:7240710 20140911 OMIM 1562370 Ccdc103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 1562370 Ccdc103 coiled-coil domain containing 103 gene DOID:5223 infertility ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 1562370 Ccdc103 coiled-coil domain containing 103 gene DOID:630 genetic disease ISO RGD:1602038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562370 Ccdc103 coiled-coil domain containing 103 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075|PMID:9536098 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1351643 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868|PMID:32585897 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060232 branchiootic syndrome ISO RGD:1351643 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Inner ear malformation PMID:29955957 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060250 idiopathic scoliosis ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:25741868 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0080205 CAKUT ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:29100090|PMID:30143558 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1351643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868|PMID:28492532|PMID:32378186 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rokitansky sequence PMID:25741868 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 ISO RGD:1351643 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina PMID:25741868 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:1059 intellectual disability ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:14766 renal agenesis ISO RGD:1351643 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1351643 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Renal agenesis and hypodysplasia PMID:28492532|PMID:29100090 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9007661 Dwarfism ISO RGD:1351643 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:7240710 20210505 OMIM 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 80 PMID:25741868|PMID:28492532|PMID:29955957|PMID:32585897 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:7240710 20190315 OMIM 1562371 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:31424080|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:33548512 1562373 Acaa1b acetyl-Coenzyme A acyltransferase 1B gene DOID:6000 congestive heart failure ISO RGD:1621308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 1562378 RGD1562378 histone H4 variant H4-v.1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346198 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562378 RGD1562378 histone H4 variant H4-v.1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346198 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562380 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1562380 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1562380 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343223 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1562380 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1562380 Drg2 developmentally regulated GTP binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343223 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562380 Drg2 developmentally regulated GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1343223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562382 Slc47a2 solute carrier family 47 member 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603576 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1562382 Slc47a2 solute carrier family 47 member 2 gene DOID:12849 autistic disorder ISO RGD:1603576 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562382 Slc47a2 solute carrier family 47 member 2 gene DOID:630 genetic disease ISO RGD:1603576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562382 Slc47a2 solute carrier family 47 member 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1603576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1605284 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0111962 combined immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:28112205 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:7240710 20190315 OMIM 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:16199547|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868 1562390 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:630 genetic disease ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562393 Defb21 defensin beta 21 gene DOID:630 genetic disease ISO RGD:1344518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562395 Spz1 spermatogenic leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1606768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562395 Spz1 spermatogenic leucine zipper 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1562395 Spz1 spermatogenic leucine zipper 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606768 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562401 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1619087 D RGD:13592920 20190516 MouseDO 1562401 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1605275 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 1562401 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605275 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562401 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1605275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 1562401 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562401 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1605275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 1562406 Sap25 Sin3A-associated protein 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132311 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562406 Sap25 Sin3A-associated protein 25 gene DOID:630 genetic disease ISO RGD:5132311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562407 Wac WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:7240710 20190315 OMIM 1562407 Wac WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation PMID:23033978|PMID:25741868|PMID:26264232|PMID:26757981|PMID:28191890|PMID:29190062 1562407 Wac WW domain containing adaptor with coiled-coil gene DOID:630 genetic disease ISO RGD:1605391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21522184|PMID:23033978|PMID:25356899|PMID:25741868|PMID:26264232|PMID:26325558|PMID:26757981|PMID:28492532 1562407 Wac WW domain containing adaptor with coiled-coil gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605391 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 1562407 Wac WW domain containing adaptor with coiled-coil gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605391 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1346207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10229804 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1346207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22433061|PMID:22493517|PMID:22970278|PMID:23143765|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:26305518|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:7240710 20200619 OMIM 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22493517|PMID:22970278|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1346207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346207 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562408 Sh2d1a SH2 domain containing 1A gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES PMID:25741868|PMID:28492532 1562408 Sh2d1a SH2 domain containing 1A gene DOID:12849 autistic disorder ISO RGD:1346207 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562408 Sh2d1a SH2 domain containing 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11049992|PMID:15711562|PMID:22970278|PMID:25741868|PMID:28492532|PMID:31415280|PMID:9771704 1562408 Sh2d1a SH2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562408 Sh2d1a SH2 domain containing 1A gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1346207 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 1562408 Sh2d1a SH2 domain containing 1A gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked PMID:25741868|PMID:28492532 1562411 Rnft1 ring finger protein, transmembrane 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1562411 Rnft1 ring finger protein, transmembrane 1 gene DOID:630 genetic disease ISO RGD:1606007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562413 Armc2 armadillo repeat containing 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1350350 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1562413 Armc2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:7240710 20190619 OMIM 1562413 Armc2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:8554872 20190618 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 38 PMID:30686508 1562413 Armc2 armadillo repeat containing 2 gene DOID:12336 male infertility ISS RGD:1622123 D RGD:13592920 20191128 MouseDO 1562413 Armc2 armadillo repeat containing 2 gene DOID:630 genetic disease ISO RGD:1350350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562414 Endov endonuclease V gene DOID:630 genetic disease ISO RGD:1602281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562414 Endov endonuclease V gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1602281 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602842 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1602842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:0111824 Aarskog syndrome ISO RGD:1602842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:25741868|PMID:28492532 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:11424144|PMID:24942156 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:7240710 20151111 OMIM 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis PMID:11424144|PMID:24942156|PMID:25741868|PMID:28492532 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1602842 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562416 Tsr2 TSR2, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1602842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1562417 Clnk cytokine-dependent hematopoietic cell linker gene DOID:12306 vitiligo ISO RGD:1605010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 1562417 Clnk cytokine-dependent hematopoietic cell linker gene DOID:630 genetic disease ISO RGD:1605010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562419 Prrt3 proline-rich transmembrane protein 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1562419 Prrt3 proline-rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1605239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562419 Prrt3 proline-rich transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605239 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562419 Prrt3 proline-rich transmembrane protein 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1562419 Prrt3 proline-rich transmembrane protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605239 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 1562424 Tmem156 transmembrane protein 156 gene DOID:630 genetic disease ISO RGD:1605045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562424 Tmem156 transmembrane protein 156 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1605045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1562428 Arhgap40 Rho GTPase activating protein 40 gene DOID:2234 focal epilepsy ISO RGD:1343259 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1562428 Arhgap40 Rho GTPase activating protein 40 gene DOID:630 genetic disease ISO RGD:1343259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562432 Espnl espin-like gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562432 Espnl espin-like gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562432 Espnl espin-like gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1562432 Espnl espin-like gene DOID:1059 intellectual disability ISO RGD:1602816 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562432 Espnl espin-like gene DOID:630 genetic disease ISO RGD:1602816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562432 Espnl espin-like gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1562434 Zbtb47 zinc finger and BTB domain containing 47 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1343623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1562434 Zbtb47 zinc finger and BTB domain containing 47 gene DOID:1826 epilepsy ISO RGD:1343623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1562434 Zbtb47 zinc finger and BTB domain containing 47 gene DOID:630 genetic disease ISO RGD:1343623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562436 Nanos2 nanos C2HC-type zinc finger 2 gene DOID:12336 male infertility ISO RGD:1354099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22190708 1562436 Nanos2 nanos C2HC-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1354099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562437 Tcerg1l transcription elongation regulator 1-like gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346689 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1562437 Tcerg1l transcription elongation regulator 1-like gene DOID:630 genetic disease ISO RGD:1346689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562437 Tcerg1l transcription elongation regulator 1-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1562438 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1342475 D RGD:9684954|PMID:15714520 20141210 RGD DNA:SNPs: :rs13133980,rs17443013(human) 1562438 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:1561 cognitive disorder severity ISO RGD:1342475 D RGD:9684953|PMID:23384821 20141210 RGD DNA:SNP,haplotype: : rs13133980,rs17443013 (human) 1562438 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:630 genetic disease ISO RGD:1342475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562438 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1342475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1562438 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:9004657 Weight Gain ISO RGD:1342475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1562440 Mterf4 mitochondrial transcription termination factor 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562440 Mterf4 mitochondrial transcription termination factor 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562440 Mterf4 mitochondrial transcription termination factor 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1562440 Mterf4 mitochondrial transcription termination factor 4 gene DOID:1059 intellectual disability ISO RGD:1602073 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562440 Mterf4 mitochondrial transcription termination factor 4 gene DOID:630 genetic disease ISO RGD:1602073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562440 Mterf4 mitochondrial transcription termination factor 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1562442 Irs4 insulin receptor substrate 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1562442 Irs4 insulin receptor substrate 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352224 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562442 Irs4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:7240710 20191002 OMIM 1562442 Irs4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 PMID:25741868|PMID:30061370 1562442 Irs4 insulin receptor substrate 4 gene DOID:12849 autistic disorder ISO RGD:1352224 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562442 Irs4 insulin receptor substrate 4 gene DOID:1324 lung cancer treatment ISO RGD:1352224 D RGD:151347872|PMID:33894221 20220208 RGD human cells in mouse model 1562442 Irs4 insulin receptor substrate 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352224 D RGD:151347872|PMID:33894221 20220208 RGD protein:increased expression:lung (human) 1562442 Irs4 insulin receptor substrate 4 gene DOID:630 genetic disease ISO RGD:1352224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562442 Irs4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer ISO RGD:1352224 D RGD:151347867|PMID:29353348 20220207 RGD protein:increased expression:colorectum (human) 1562442 Irs4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:151347868|PMID:29185229 20220207 RGD protein:increased expression:colorectal mucosa (human) 1562442 Irs4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:151347869|PMID:30410539 20220207 RGD protein:increased expression:colorectum (human) 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350450 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1350450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:28492532|PMID:30208311 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:630 genetic disease ISO RGD:1350450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:7240710 20130221 OMIM 1562444 Srpx2 sushi-repeat-containing protein, X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:16199547|PMID:16497722|PMID:18718938|PMID:23352160|PMID:23831613|PMID:23871722|PMID:23933820|PMID:24995671|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 1562447 Coq10a coenzyme Q10A gene DOID:630 genetic disease ISO RGD:1602309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562447 Coq10a coenzyme Q10A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1562449 Faxc failed axon connections homolog, metaxin like GST domain containing gene DOID:10283 prostate cancer ISO RGD:1347110 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1562449 Faxc failed axon connections homolog, metaxin like GST domain containing gene DOID:630 genetic disease ISO RGD:1347110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562450 Atp6v1h ATPase H+ transporting V1 subunit H gene DOID:630 genetic disease ISO RGD:1320995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562452 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349052 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562452 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:630 genetic disease ISO RGD:1349052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562452 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349052 D RGD:14398326|PMID:26342799 20190416 RGD 1562452 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1349052 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1562452 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349052 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1607086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18850583 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1607086 D RGD:151665336|PMID:24743017 20220322 RGD protein:increased expression:mucosa of oral region (human) 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1607086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:1607086 D RGD:2315043|PMID:16080017 20091215 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1607086 D RGD:2315029|PMID:19450994 20091214 RGD 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:10286 prostate carcinoma ISO RGD:1607086 D RGD:2315046|PMID:12670908 20091215 RGD 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1607086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18451165 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:1612 breast cancer ISO RGD:1607086 D RGD:2315035|PMID:19350629 20091215 RGD protein:increased expression:breast 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1607086 D RGD:2315044|PMID:15351619 20091215 RGD protein:increased expression:kidney 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1607086 D RGD:2315038|PMID:18922157 20091215 RGD 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1607086 D RGD:13825152|PMID:12107105 20181120 RGD mRNA:increased expression:lung: 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:630 genetic disease ISO RGD:1607086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:2315050|PMID:19533683 20091215 RGD protein:increased expression:liver 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1607086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12717389 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1607086 D RGD:2315036|PMID:19094580 20091215 RGD associated with Papillomavirus Infections 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1607086 D RGD:2315043|PMID:16080017 20091215 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9000998 Brain Injuries IEP D RGD:2315049|PMID:19852587 20091215 RGD protein:increased expression:brain 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1607086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19636294 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1607086 D RGD:2315042|PMID:16525656 20091215 RGD 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1607086 D RGD:2302384|PMID:18559093 20091215 RGD DNA, mRNA:amplification, increased expression:uterine cervix 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1607086 D RGD:2315036|PMID:19094580 20091215 RGD associated with Papillomavirus Infections 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607086 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1607086 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 1562456 Skp2 S-phase kinase associated protein 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1607086 D RGD:2315045|PMID:15220466 20091215 RGD 1562463 Fbxo44 F-box protein 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1562463 Fbxo44 F-box protein 44 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1562463 Fbxo44 F-box protein 44 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1562463 Fbxo44 F-box protein 44 gene DOID:630 genetic disease ISO RGD:1606989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562463 Fbxo44 F-box protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1562463 Fbxo44 F-box protein 44 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606989 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1562464 Vsig8 V-set and immunoglobulin domain containing 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1562464 Vsig8 V-set and immunoglobulin domain containing 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1603819 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562464 Vsig8 V-set and immunoglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1603819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562464 Vsig8 V-set and immunoglobulin domain containing 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603819 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344589 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1344589 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344589 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:2717 Bloom syndrome ISO RGD:1344589 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:3393 coronary artery disease ISO RGD:1344589 D RGD:13703124|PMID:18987747 20180803 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:630 genetic disease ISO RGD:1344589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1344589 D RGD:13703126|PMID:19774691 20180803 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) 1562468 Aph1b aph-1 homolog B, gamma secretase subunit gene DOID:9256 colorectal cancer ISO RGD:1344589 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1352449 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1352449 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:0110928 nemaline myopathy 2 ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18414213|PMID:19339519|PMID:19805734|PMID:21148390|PMID:21520333|PMID:22941678|PMID:23443021|PMID:23726790|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24972929|PMID:25110572|PMID:25205138|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25740301|PMID:25741868|PMID:26019235|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27357428|PMID:27884173|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30950222|PMID:31230720|PMID:31256874|PMID:31965297|PMID:32222963|PMID:33442022|PMID:34440373|PMID:7739042|PMID:9536098 1562474 Rif1 replication timing regulatory factor 1 gene DOID:3191 nemaline myopathy ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:19805734|PMID:23443021|PMID:24056153|PMID:25205138|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29389947|PMID:29669168|PMID:30057997|PMID:30467404|PMID:31230720|PMID:32222963|PMID:33442022 1562474 Rif1 replication timing regulatory factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352449 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1352449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26562614|PMID:28492532|PMID:32222963|PMID:9536098 1562474 Rif1 replication timing regulatory factor 1 gene DOID:870 neuropathy ISO RGD:1352449 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:9000123 Deglutition Disorders ISO RGD:1352449 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 1562474 Rif1 replication timing regulatory factor 1 gene DOID:9884 muscular dystrophy ISO RGD:1352449 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25205138|PMID:25741868|PMID:28492532 1562476 Lage3 L antigen family, member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562476 Lage3 L antigen family, member 3 gene DOID:0050476 Barth syndrome ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562476 Lage3 L antigen family, member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562476 Lage3 L antigen family, member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602901 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1562476 Lage3 L antigen family, member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:7240710 20190315 OMIM 1562476 Lage3 L antigen family, member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked PMID:12693786|PMID:25741868|PMID:28492532|PMID:28805828 1562476 Lage3 L antigen family, member 3 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602901 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 1562476 Lage3 L antigen family, member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1602901 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 1562476 Lage3 L antigen family, member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1602901 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1562476 Lage3 L antigen family, member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562476 Lage3 L antigen family, member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562476 Lage3 L antigen family, member 3 gene DOID:12849 autistic disorder ISO RGD:1602901 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562476 Lage3 L antigen family, member 3 gene DOID:13628 favism ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1562476 Lage3 L antigen family, member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1562476 Lage3 L antigen family, member 3 gene DOID:607 paraplegia ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562476 Lage3 L antigen family, member 3 gene DOID:630 genetic disease ISO RGD:1602901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562476 Lage3 L antigen family, member 3 gene DOID:9002720 Splenomegaly ISO RGD:1602901 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1562478 Rab17 RAB17, member RAS oncogene family gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562478 Rab17 RAB17, member RAS oncogene family gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562478 Rab17 RAB17, member RAS oncogene family gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1562478 Rab17 RAB17, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346493 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562478 Rab17 RAB17, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562478 Rab17 RAB17, member RAS oncogene family gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1562483 Hoxa13 homeo box A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9020844|PMID:24239177 1562483 Hoxa13 homeo box A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:1599526|PMID:9020844 20070206 RGD hand-foot-genital syndrome, OMIM:140000 1562483 Hoxa13 homeo box A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:7240710 20150722 OMIM 1562483 Hoxa13 homeo box A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome PMID:10839976|PMID:12073020|PMID:12414828|PMID:1442892|PMID:17935235|PMID:25741868|PMID:2774004|PMID:5450271|PMID:8673126|PMID:9020844 1562483 Hoxa13 homeo box A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1562483 Hoxa13 homeo box A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:7240710 20150722 OMIM 1562483 Hoxa13 homeo box A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guttmacher syndrome PMID:25741868|PMID:28492532 1562483 Hoxa13 homeo box A13 gene DOID:10892 hypospadias IEP D RGD:12743602|PMID:27079746 20170209 RGD mRNA:decreased expression:male genital tubercle 1562483 Hoxa13 homeo box A13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346914 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562483 Hoxa13 homeo box A13 gene DOID:630 genetic disease ISO RGD:1346914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562483 Hoxa13 homeo box A13 gene DOID:684 hepatocellular carcinoma ISO RGD:1346914 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1562483 Hoxa13 homeo box A13 gene DOID:9001471 Anorectal Malformations IEP D RGD:12743602|PMID:27079746 20170209 RGD mRNA:decreased expression:rectum 1562483 Hoxa13 homeo box A13 gene DOID:9001471 Anorectal Malformations IEP D RGD:1599527|PMID:17161201 20170208 RGD mRNA:decreased expression:hindgut 1562483 Hoxa13 homeo box A13 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1346914 D RGD:1599526|PMID:9020844 20070206 RGD hand-foot-genital syndrome, OMIM:140000 1562483 Hoxa13 homeo box A13 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1346914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 1562483 Hoxa13 homeo box A13 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 1562486 Dnajc5b DnaJ heat shock protein family (Hsp40) member C5 beta gene DOID:630 genetic disease ISO RGD:1348913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562500 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1562500 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1604495 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562500 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:5419 schizophrenia ISO RGD:1604495 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562500 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1604495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606308 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606308 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:630 genetic disease ISO RGD:1606308 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:7240710 20130724 OMIM 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to defect in mapbp-interacting protein PMID:17195838|PMID:22968171|PMID:25741868|PMID:28492532 1562501 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606308 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562502 Pbdc1 polysaccharide biosynthesis domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344013 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562502 Pbdc1 polysaccharide biosynthesis domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1344013 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562502 Pbdc1 polysaccharide biosynthesis domain containing 1 gene DOID:630 genetic disease ISO RGD:1344013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562504 Tceal3 transcription elongation factor A like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346044 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562504 Tceal3 transcription elongation factor A like 3 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1346044 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 1562504 Tceal3 transcription elongation factor A like 3 gene DOID:12849 autistic disorder ISO RGD:1346044 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562504 Tceal3 transcription elongation factor A like 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 1562504 Tceal3 transcription elongation factor A like 3 gene DOID:630 genetic disease ISO RGD:1346044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562504 Tceal3 transcription elongation factor A like 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346044 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay 1562505 Wdr25 WD repeat domain 25 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606781 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 1562505 Wdr25 WD repeat domain 25 gene DOID:2843 long QT syndrome ISO RGD:1606781 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1562505 Wdr25 WD repeat domain 25 gene DOID:630 genetic disease ISO RGD:1606781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562511 Kif17 kinesin family member 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1344438 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1562511 Kif17 kinesin family member 17 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1562511 Kif17 kinesin family member 17 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1344438 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1562511 Kif17 kinesin family member 17 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1562511 Kif17 kinesin family member 17 gene DOID:630 genetic disease ISO RGD:1344438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562511 Kif17 kinesin family member 17 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1562512 Lca5l lebercilin LCA5 like gene DOID:12849 autistic disorder ISO RGD:1345568 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562512 Lca5l lebercilin LCA5 like gene DOID:630 genetic disease ISO RGD:1345568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562513 Clec9a C-type lectin domain containing 9A gene DOID:630 genetic disease ISO RGD:1343177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562523 Tmie transmembrane inner ear gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343102 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 1562523 Tmie transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:7240710 20130221 OMIM 1562523 Tmie transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 PMID:12145746|PMID:16389551|PMID:19438934|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:35710363|PMID:8593615 1562523 Tmie transmembrane inner ear gene DOID:10003 sensorineural hearing loss ISO RGD:1343102 D RGD:1599441|PMID:12145746 20070205 RGD DFNB6, OMIM:600971 1562523 Tmie transmembrane inner ear gene DOID:10003 sensorineural hearing loss ISO RGD:1343102 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 1562523 Tmie transmembrane inner ear gene DOID:630 genetic disease ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 1562523 Tmie transmembrane inner ear gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1562523 Tmie transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 1562523 Tmie transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:8593615 1562526 Fam171b family with sequence similarity 171, member B gene DOID:630 genetic disease ISO RGD:1354368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562526 Fam171b family with sequence similarity 171, member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354368 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562527 Tmem196 transmembrane protein 196 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606932 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562527 Tmem196 transmembrane protein 196 gene DOID:630 genetic disease ISO RGD:1606932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050712 AGAT deficiency ISO RGD:1347040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050952 spastic ataxia ISO RGD:1347040 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060041 autism spectrum disorder ISO RGD:1347040 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:7240710 20151014 OMIM 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29946510|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31589614|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32579787|PMID:32671691|PMID:32989326|PMID:33414559|PMID:33589474|PMID:33624863|PMID:34153142|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:7240710 20160113 OMIM 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18663179|PMID:18835492|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19513778|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23812641|PMID:23881933|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32989326|PMID:33414559|PMID:33589474|PMID:34153142|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:7240710 20130221 OMIM 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32860008|PMID:32989326|PMID:34906502|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31227335|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32638105|PMID:32860008|PMID:32989326|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:34906502|PMID:35047667|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:36139378|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:36139378|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:1059 intellectual disability ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17322883|PMID:17576681|PMID:18067136|PMID:25174650|PMID:25741868|PMID:26467025|PMID:27066562|PMID:27217339|PMID:28492532|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30609409|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33589474|PMID:33624863|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:32005694|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35254204|PMID:35464835|PMID:36139378|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2717 Bloom syndrome ISO RGD:1347040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18337587|PMID:19466474|PMID:22696581|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:27884173|PMID:27904835|PMID:28130640|PMID:28492532|PMID:31407473|PMID:33098801|PMID:33414559|PMID:35254204|PMID:36139378 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:607 paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19105190|PMID:20110243|PMID:20301389|PMID:21381113|PMID:22154821|PMID:23043354|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31227335|PMID:31289639|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:35047667|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:27790088|PMID:27900367|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:35047667|PMID:35254204|PMID:36139378|PMID:9536098 1562529 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:9256 colorectal cancer ISO RGD:1347040 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562530 Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1349470 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1562530 Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1562530 Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1562530 Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1562530 Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1349470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562530 Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349470 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:0050908 myelodysplastic syndrome ISS RGD:1557974 D RGD:13592920 20220915 MouseDO OMIM:614286 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:1059 intellectual disability ISO RGD:1353410 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:10907 microcephaly ISO RGD:1353410 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353410 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29146900|PMID:35310830 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:7240710 20211222 OMIM 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:283689|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:30322869|PMID:31692161|PMID:33884299|PMID:35310830 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:7240710 20220427 OMIM 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 49 PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:7240710 20211222 OMIM 1562531 Samd9l1 sterile alpha motif domain containing 9 like 1 gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:33884299 1562532 C5h1orf141 similar to human chromosome 1 open reading frame 141 gene DOID:1059 intellectual disability ISO RGD:1606070 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1562533 Mtus2 microtubule associated scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562539 Ddx54 DEAD-box helicase 54 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1354287 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1562539 Ddx54 DEAD-box helicase 54 gene DOID:0080204 renal hypoplasia ISO RGD:1354287 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:31256877 1562539 Ddx54 DEAD-box helicase 54 gene DOID:1059 intellectual disability ISO RGD:1354287 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 1562539 Ddx54 DEAD-box helicase 54 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354287 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1562539 Ddx54 DEAD-box helicase 54 gene DOID:1826 epilepsy ISO RGD:1354287 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 1562539 Ddx54 DEAD-box helicase 54 gene DOID:630 genetic disease ISO RGD:1354287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562539 Ddx54 DEAD-box helicase 54 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354287 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 1562539 Ddx54 DEAD-box helicase 54 gene DOID:9007188 Liver Neoplasms ISO RGD:1354287 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1562550 Tmem267 transmembrane protein 267 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605053 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562551 Ism1 isthmin 1 gene DOID:630 genetic disease ISO RGD:1351413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602274 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:7240710 20170419 OMIM 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25029335|PMID:25401470|PMID:25741868|PMID:25790474|PMID:26235147|PMID:27613991|PMID:28087229|PMID:28484079|PMID:28492532|PMID:29367762|PMID:29694889|PMID:30038614|PMID:30463976|PMID:30794020|PMID:30919572|PMID:32673614|PMID:33014937|PMID:33217613|PMID:33488593|PMID:9536098 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:11077 brucellosis ISO RGD:1615847 D RGD:39128199|PMID:29203515 20200925 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:11077 brucellosis ISO RGD:1615847 D RGD:39128234|PMID:30894428 20200927 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:11573 listeriosis ISO RGD:1615847 D RGD:39128219|PMID:23378430 20200926 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:11573 listeriosis ISO RGD:1615847 D RGD:39128233|PMID:21098106 20200927 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:1395 schistosomiasis ISO RGD:1615847 D RGD:39128195|PMID:32404867 20200924 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:1602 lymphadenitis disease_progression ISO RGD:1615847 D RGD:39128217|PMID:27511736 20200925 RGD associated with herpes simplex 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2043 hepatitis B ISO RGD:1615847 D RGD:39128205|PMID:27312012 20200925 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2365 West Nile encephalitis severity ISO RGD:1615847 D RGD:39128224|PMID:31415679 20200927 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28166811|PMID:28492532 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:9536098 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1615847 D RGD:39128228|PMID:29421524 20200927 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse) 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1602274 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:399 tuberculosis ISO RGD:1615847 D RGD:39128196|PMID:29791904 20200925 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1602274 D RGD:39128218|PMID:24367701 20200926 RGD mRNA:increased expression:multiple tissues (human) 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:630 genetic disease ISO RGD:1602274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9000109 Haemophilus Infections ISO RGD:1615847 D RGD:39128228|PMID:29421524 20200927 RGD mRNA,protein:increased expression:lung (mouse) 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002087 Silicotuberculosis severity ISO RGD:1615847 D RGD:39128194|PMID:31141689 20200924 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1615847 D RGD:39128230|PMID:29263110 20200927 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602274 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005106 Animal Toxoplasmosis severity ISO RGD:1615847 D RGD:39128220|PMID:31416833 20200926 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1602274 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615847 D RGD:39128225|PMID:31249303 20200927 RGD 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602274 D RGD:11554173 20230516 CTD CTD Direct Evidence: therapeutic PMID:36520315 1562552 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1602274 D RGD:39128221|PMID:30593207 20200927 RGD DNA:hypermethylation:promoter 1562557 Zfp839 zinc finger protein 839 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1562557 Zfp839 zinc finger protein 839 gene DOID:630 genetic disease ISO RGD:1343787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562559 Arhgef26 Rho guanine nucleotide exchange factor 26 gene DOID:630 genetic disease ISO RGD:1603402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562560 Vwa3b von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:7240710 20190315 OMIM 1562560 Vwa3b von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 PMID:25741868|PMID:26157035 1562560 Vwa3b von Willebrand factor A domain containing 3B gene DOID:630 genetic disease ISO RGD:1603168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562560 Vwa3b von Willebrand factor A domain containing 3B gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1603168 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1562562 Tmem117 transmembrane protein 117 gene DOID:13580 cholestasis ISO RGD:1604277 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1562562 Tmem117 transmembrane protein 117 gene DOID:630 genetic disease ISO RGD:1604277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562562 Tmem117 transmembrane protein 117 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604277 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1562563 Tra2a transformer 2 alpha gene DOID:37 skin disease ISO RGD:1603645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1562563 Tra2a transformer 2 alpha gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603645 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562563 Tra2a transformer 2 alpha gene DOID:630 genetic disease ISO RGD:1603645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562563 Tra2a transformer 2 alpha gene DOID:9007964 Arsenic Poisoning ISO RGD:1603645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1562566 Cenpu centromere protein U gene DOID:0080600 COVID-19 ISO RGD:1351502 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562566 Cenpu centromere protein U gene DOID:630 genetic disease ISO RGD:1351502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562566 Cenpu centromere protein U gene DOID:684 hepatocellular carcinoma ISO RGD:1351502 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1562570 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:0050795 cone dystrophy ISO RGD:1314604 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:24697911 1562570 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:7240710 20130221 OMIM 1562570 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: PHARC syndrome PMID:17576681|PMID:20797687|PMID:23806086|PMID:24088041|PMID:24697911|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29571850|PMID:31690835|PMID:9536098 1562570 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:630 genetic disease ISO RGD:1314604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562570 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:8501 fundus dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22938382|PMID:28041643|PMID:28492532 1562570 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:9004538 Hearing Loss ISO RGD:1314604 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1562571 Thegl theg spermatid protein-like gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:5688605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 1562572 Jaml junction adhesion molecule like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1562572 Jaml junction adhesion molecule like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1562572 Jaml junction adhesion molecule like gene DOID:0080690 RASopathy ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1562572 Jaml junction adhesion molecule like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344740 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1562572 Jaml junction adhesion molecule like gene DOID:0110651 long QT syndrome 10 ISO RGD:1344740 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1562572 Jaml junction adhesion molecule like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1562572 Jaml junction adhesion molecule like gene DOID:0111971 immunodeficiency 18 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1562572 Jaml junction adhesion molecule like gene DOID:0111972 immunodeficiency 19 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1562572 Jaml junction adhesion molecule like gene DOID:0111973 immunodeficiency 17 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1562572 Jaml junction adhesion molecule like gene DOID:1059 intellectual disability ISO RGD:1344740 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562572 Jaml junction adhesion molecule like gene DOID:630 genetic disease ISO RGD:1344740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562572 Jaml junction adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344740 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562572 Jaml junction adhesion molecule like gene DOID:9007661 Dwarfism ISO RGD:1344740 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1562573 Zfp830 zinc finger protein 830 gene DOID:0080600 COVID-19 ISO RGD:1605313 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562573 Zfp830 zinc finger protein 830 gene DOID:630 genetic disease ISO RGD:1605313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562573 Zfp830 zinc finger protein 830 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605313 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562576 Ranbp17 RAN binding protein 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1345238 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 1562576 Ranbp17 RAN binding protein 17 gene DOID:10908 hydrocephalus ISO RGD:1345238 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 1562576 Ranbp17 RAN binding protein 17 gene DOID:630 genetic disease ISO RGD:1345238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1344058 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:0110266 cataract 9 multiple types ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:12849 autistic disorder ISO RGD:1344058 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:630 genetic disease ISO RGD:1344058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:9263 homocystinuria ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1562578 Spatc1l spermatogenesis and centriole associated 1-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1562579 Srrd SRR1 domain containing gene DOID:0110271 cataract 23 ISO RGD:1606069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1562579 Srrd SRR1 domain containing gene DOID:630 genetic disease ISO RGD:1606069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562580 Lpar5 lysophosphatidic acid receptor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1562580 Lpar5 lysophosphatidic acid receptor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1348840 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1562580 Lpar5 lysophosphatidic acid receptor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1348840 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1562580 Lpar5 lysophosphatidic acid receptor 5 gene DOID:630 genetic disease ISO RGD:1348840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562580 Lpar5 lysophosphatidic acid receptor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348840 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1562582 Tti1 TELO2 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36724785 1562582 Tti1 TELO2 interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1605708 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1562582 Tti1 TELO2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562583 Lonrf1 LON peptidase N-terminal domain and ring finger 1 gene DOID:630 genetic disease ISO RGD:1605309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562587 Wdr38 WD repeat domain 38 gene DOID:630 genetic disease ISO RGD:1625454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562590 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1562590 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1562590 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604570 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562590 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1604570 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604165 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:0080205 CAKUT ISO RGD:1604165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:28492532|PMID:30143558 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:14780 KBG syndrome ISO RGD:1604165 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:630 genetic disease ISO RGD:1604165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604165 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604165 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604165 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9006205 Animal Disease Models ISO RGD:1604165 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1604165 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:7240710 20190315 OMIM 1562594 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25081361|PMID:25741868|PMID:26633546|PMID:27480277|PMID:28492532|PMID:31301155 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604840 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604840 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:630 genetic disease ISO RGD:1604840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604840 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:7240710 20190315 OMIM 1562596 Ncapd2 non-SMC condensin I complex, subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868|PMID:27737959 1562597 Pdxdc1 pyridoxal-dependent decarboxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604634 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562597 Pdxdc1 pyridoxal-dependent decarboxylase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604634 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1562597 Pdxdc1 pyridoxal-dependent decarboxylase domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1604634 D RGD:11554173 20161206 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 1562597 Pdxdc1 pyridoxal-dependent decarboxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604634 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562597 Pdxdc1 pyridoxal-dependent decarboxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562602 Pml PML nuclear body scaffold gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1562602 Pml PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:8616088|PMID:10742073|PMID:14706140|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21345080|PMID:21613260|PMID:22213200|PMID:23208507|PMID:23734343|PMID:26285909|PMID:26728337|PMID:32882258|PMID:32929351 1562602 Pml PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:41404695|PMID:9122233 20210203 RGD human PML/RARA gene fusion in a mouse model 1562602 Pml PML nuclear body scaffold gene DOID:10591 pre-eclampsia ISO RGD:1345145 D RGD:41404689|PMID:20228380 20210203 RGD mRNA:decreased expression:placenta (human) 1562602 Pml PML nuclear body scaffold gene DOID:1324 lung cancer ameliorates ISO RGD:1557220 D RGD:41404692|PMID:25486572 20210203 RGD 1562602 Pml PML nuclear body scaffold gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1562602 Pml PML nuclear body scaffold gene DOID:2717 Bloom syndrome ISO RGD:1345145 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562602 Pml PML nuclear body scaffold gene DOID:3007 breast ductal carcinoma ISO RGD:1345145 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1562602 Pml PML nuclear body scaffold gene DOID:3068 glioblastoma ISO RGD:1345145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23440206 1562602 Pml PML nuclear body scaffold gene DOID:4159 skin cancer severity ISO RGD:1345145 D RGD:41404688|PMID:19058256 20210203 RGD human gene in a mouse model 1562602 Pml PML nuclear body scaffold gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345145 D RGD:41404694|PMID:25293974 20210203 RGD protein:decreased expression:kidney (human) 1562602 Pml PML nuclear body scaffold gene DOID:5408 Paget's disease of bone ISO RGD:1345145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 1562602 Pml PML nuclear body scaffold gene DOID:5419 schizophrenia ISO RGD:1345145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1562602 Pml PML nuclear body scaffold gene DOID:5419 schizophrenia ISO RGD:1345145 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562602 Pml PML nuclear body scaffold gene DOID:630 genetic disease ISO RGD:1345145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562602 Pml PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1557220 D RGD:41404690|PMID:26118777 20210203 RGD mRNA:increased expression:liver (mouse) 1562602 Pml PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345145 D RGD:41404685|PMID:11511788 20210203 RGD protein:increased expression:liver (human) 1562602 Pml PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557220 D RGD:41404687|PMID:31144474 20210203 RGD associated with hepatitis C 1562602 Pml PML nuclear body scaffold gene DOID:9000645 Rotavirus Infections ISO RGD:1345145 D RGD:41404693|PMID:31677607 20210203 RGD associated with gastroenteritis;mRNA:decreased expression:blood (human) 1562602 Pml PML nuclear body scaffold gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345145 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 1562602 Pml PML nuclear body scaffold gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345145 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20377131 1562602 Pml PML nuclear body scaffold gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345145 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 1562602 Pml PML nuclear body scaffold gene DOID:9003370 Dyslipidemias ISO RGD:1345145 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 1562602 Pml PML nuclear body scaffold gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1345145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 1562602 Pml PML nuclear body scaffold gene DOID:9256 colorectal cancer ISO RGD:1345145 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562602 Pml PML nuclear body scaffold gene DOID:9538 multiple myeloma severity ISO RGD:1345145 D RGD:41404686|PMID:22906876 20210203 RGD protein:increased expression:bone marrow (human) 1562608 RGD1562608 similar to KIAA1328 protein gene DOID:1059 intellectual disability ISO RGD:1343837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562608 RGD1562608 similar to KIAA1328 protein gene DOID:630 genetic disease ISO RGD:1343837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562609 Pld5 phospholipase D family, member 5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1562609 Pld5 phospholipase D family, member 5 gene DOID:0111261 fumarase deficiency ISO RGD:1603543 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 1562609 Pld5 phospholipase D family, member 5 gene DOID:12849 autistic disorder ISO RGD:1603543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 1562609 Pld5 phospholipase D family, member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603543 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562609 Pld5 phospholipase D family, member 5 gene DOID:630 genetic disease ISO RGD:1603543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562609 Pld5 phospholipase D family, member 5 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 1562609 Pld5 phospholipase D family, member 5 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603543 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:28492532 1562609 Pld5 phospholipase D family, member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603543 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562609 Pld5 phospholipase D family, member 5 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1603543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 1562609 Pld5 phospholipase D family, member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603543 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562610 Zfp2 zinc finger protein 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1562610 Zfp2 zinc finger protein 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562610 Zfp2 zinc finger protein 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604799 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562610 Zfp2 zinc finger protein 2 gene DOID:630 genetic disease ISO RGD:1604799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562617 Rab7b Rab7b, member RAS oncogene family gene DOID:11476 osteoporosis ISO RGD:1346465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1562617 Rab7b Rab7b, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1346465 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562617 Rab7b Rab7b, member RAS oncogene family gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1562618 Insyn1 inhibitory synaptic factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2298735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1562618 Insyn1 inhibitory synaptic factor 1 gene DOID:2717 Bloom syndrome ISO RGD:2298735 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562618 Insyn1 inhibitory synaptic factor 1 gene DOID:3320 Tay-Sachs disease ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1562618 Insyn1 inhibitory synaptic factor 1 gene DOID:5419 schizophrenia ISO RGD:2298735 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562618 Insyn1 inhibitory synaptic factor 1 gene DOID:9256 colorectal cancer ISO RGD:2298735 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562619 Izumo2 IZUMO family member 2 gene DOID:630 genetic disease ISO RGD:1606978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562620 Etv3l ETS variant transcription factor 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1603450 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562620 Etv3l ETS variant transcription factor 3 like gene DOID:630 genetic disease ISO RGD:1603450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562620 Etv3l ETS variant transcription factor 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603450 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562622 Tmem229b transmembrane protein 229B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348278 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1562622 Tmem229b transmembrane protein 229B gene DOID:630 genetic disease ISO RGD:1348278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562626 Tom1l1 target of myb1 like 1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1351961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562626 Tom1l1 target of myb1 like 1 membrane trafficking protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1562627 Mafa MAF bZIP transcription factor A gene DOID:0050524 maturity-onset diabetes of the young ISS RGD:1557163 D RGD:13592920 20180518 MouseDO OMIM:606391 1562627 Mafa MAF bZIP transcription factor A gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1562627 Mafa MAF bZIP transcription factor A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1562627 Mafa MAF bZIP transcription factor A gene DOID:4621 holoprosencephaly ISO RGD:1604438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1562627 Mafa MAF bZIP transcription factor A gene DOID:630 genetic disease ISO RGD:1604438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562627 Mafa MAF bZIP transcription factor A gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1604438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25741868 1562627 Mafa MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:7240710 20200304 OMIM 1562627 Mafa MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Islet cell adenomatosis PMID:25741868|PMID:29339498 1562627 Mafa MAF bZIP transcription factor A gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1557163 D RGD:13506743|PMID:28487936 20180209 RGD 1562627 Mafa MAF bZIP transcription factor A gene DOID:9351 diabetes mellitus treatment IEP D RGD:13506744|PMID:23801580 20180209 RGD 1562627 Mafa MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:13506745|PMID:20424231 20180209 RGD protein:decreased expression:beta cells of pancrea 1562627 Mafa MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604438 D RGD:13506742|PMID:24013263 20180209 RGD protein:decreased expression:islet: 1562627 Mafa MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISS RGD:1557163 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 1562629 Nbea neurobeachin gene DOID:0060041 autism spectrum disorder ISO RGD:1323716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1562629 Nbea neurobeachin gene DOID:0060041 autism spectrum disorder ISS RGD:1323717 D RGD:13592920 20190516 MouseDO 1562629 Nbea neurobeachin gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:25741868 1562629 Nbea neurobeachin gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:25741868 1562629 Nbea neurobeachin gene DOID:10534 stomach cancer severity ISO RGD:1323716 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 1562629 Nbea neurobeachin gene DOID:1059 intellectual disability ISO RGD:1323716 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562629 Nbea neurobeachin gene DOID:12849 autistic disorder ISO RGD:1323716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12746398|PMID:20071347 1562629 Nbea neurobeachin gene DOID:12849 autistic disorder ISO RGD:1323716 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 1562629 Nbea neurobeachin gene DOID:1826 epilepsy ISO RGD:1323716 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 1562629 Nbea neurobeachin gene DOID:2213 hemorrhagic disease ISO RGD:1323716 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1562629 Nbea neurobeachin gene DOID:630 genetic disease ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1562629 Nbea neurobeachin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1562629 Nbea neurobeachin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323716 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562629 Nbea neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:7240710 20210217 OMIM 1562629 Nbea neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:25741868|PMID:28492532|PMID:30269351|PMID:34412939 1562629 Nbea neurobeachin gene DOID:9008086 Developmental Disabilities ISO RGD:1323716 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1562629 Nbea neurobeachin gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 1562629 Nbea neurobeachin gene DOID:9008582 Developmental Disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1562630 Spata31d1c spermatogenesis associated 31 subfamily D, member 1C gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:3104049 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1562630 Spata31d1c spermatogenesis associated 31 subfamily D, member 1C gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:3104049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562630 Spata31d1c spermatogenesis associated 31 subfamily D, member 1C gene DOID:0112103 Sotos syndrome 1 ISO RGD:3104049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562631 Tlcd2 TLC domain containing 2 gene DOID:630 genetic disease ISO RGD:2292702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348508 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:13938 amenorrhea ISO RGD:1348508 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348508 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:630 genetic disease ISO RGD:1348508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1348508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348508 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562635 Smyd3 SET and MYND domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348508 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562639 Dennd4a DENN domain containing 4A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349929 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1562639 Dennd4a DENN domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1349929 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562639 Dennd4a DENN domain containing 4A gene DOID:630 genetic disease ISO RGD:1349929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562639 Dennd4a DENN domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1349929 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562645 Iqcf6 IQ motif containing F6 gene DOID:630 genetic disease ISO RGD:2302686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562646 Ncapg non-SMC condensin I complex, subunit G gene DOID:0080600 COVID-19 ISO RGD:1605960 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562646 Ncapg non-SMC condensin I complex, subunit G gene DOID:3910 lung adenocarcinoma ISO RGD:1605960 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:34419073 1562646 Ncapg non-SMC condensin I complex, subunit G gene DOID:630 genetic disease ISO RGD:1605960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562646 Ncapg non-SMC condensin I complex, subunit G gene DOID:684 hepatocellular carcinoma ISO RGD:1605960 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1562646 Ncapg non-SMC condensin I complex, subunit G gene DOID:9000918 Disease Progression ISO RGD:1605960 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 1562646 Ncapg non-SMC condensin I complex, subunit G gene DOID:9007715 Endometrial Neoplasms ISO RGD:1605960 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 1562653 Saxo2 stabilizer of axonemal microtubules 2 gene DOID:2717 Bloom syndrome ISO RGD:1606117 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562653 Saxo2 stabilizer of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1606117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562653 Saxo2 stabilizer of axonemal microtubules 2 gene DOID:9256 colorectal cancer ISO RGD:1606117 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562654 Rft1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:7240710 20130221 OMIM 1562654 Rft1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:16199547|PMID:17576681|PMID:18313027|PMID:19267216|PMID:19701946|PMID:19856127|PMID:23111317|PMID:25741868|PMID:26892341|PMID:27172925|PMID:28492532|PMID:28940310|PMID:29923091|PMID:30071302|PMID:30653653|PMID:31231135|PMID:33023636|PMID:9536098 1562654 Rft1 RFT1 homolog gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:1342907 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:23319571|PMID:23430113|PMID:28492532 1562654 Rft1 RFT1 homolog gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342907 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1562654 Rft1 RFT1 homolog gene DOID:630 genetic disease ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26892341|PMID:28492532|PMID:31231135|PMID:33023636 1562656 Acsf2 acyl-CoA synthetase family member 2 gene DOID:630 genetic disease ISO RGD:1604594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1606994 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606994 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:2746 glycogen storage disease V ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1606994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1562657 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1562658 Cfap126 cilia and flagella associated protein 126 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 1562658 Cfap126 cilia and flagella associated protein 126 gene DOID:0050771 pheochromocytoma ISO RGD:1604188 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Pheochromocytoma 1562658 Cfap126 cilia and flagella associated protein 126 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1562658 Cfap126 cilia and flagella associated protein 126 gene DOID:1540 parathyroid carcinoma ISO RGD:1604188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562658 Cfap126 cilia and flagella associated protein 126 gene DOID:630 genetic disease ISO RGD:1604188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562658 Cfap126 cilia and flagella associated protein 126 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604188 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562664 Zfx zinc finger protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344344 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562664 Zfx zinc finger protein X-linked gene DOID:12849 autistic disorder ISO RGD:1344344 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562664 Zfx zinc finger protein X-linked gene DOID:630 genetic disease ISO RGD:1344344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562664 Zfx zinc finger protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344344 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562665 Zfp707l1 zinc finger protein 707-like 1 gene DOID:630 genetic disease ISO RGD:1603343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562668 Lamb3 laminin subunit beta 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1344175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16403119|PMID:16439963|PMID:16473856|PMID:16971478|PMID:17476356|PMID:20301304|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24033266|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28392661|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30544381|PMID:32484238|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8362910|PMID:8541876|PMID:8755931|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9457915|PMID:9579554|PMID:9690563|PMID:9767254|PMID:9856852 1562668 Lamb3 laminin subunit beta 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISS RGD:1558574 D RGD:13592920 20220609 MouseDO OMIM:226700 1562668 Lamb3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism 1562668 Lamb3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:30544381|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9690563|PMID:9767254|PMID:9856855 1562668 Lamb3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:23278291|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 1562668 Lamb3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:7240710 20150225 OMIM 1562668 Lamb3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16439963|PMID:16473856|PMID:16674655|PMID:17476356|PMID:17576681|PMID:20301304|PMID:21801158|PMID:23278291|PMID:23632796|PMID:23958762|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9536098|PMID:9767254 1562668 Lamb3 laminin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1344175 D RGD:8554872 20150811 ClinVar ClinVar Annotator: match by term: Autism 1562668 Lamb3 laminin subunit beta 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562668 Lamb3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1344175 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism 1562668 Lamb3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1344175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:17916201|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:24033266|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:32484238|PMID:33274474|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 1562668 Lamb3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1344175 D RGD:1600209|PMID:7698759 20070302 RGD DNA:nonsense mutation 1562668 Lamb3 laminin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344175 D RGD:13793368|PMID:10964684 20181003 RGD mRNA:increased expression:lung: 1562668 Lamb3 laminin subunit beta 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1344175 D RGD:13793369|PMID:12855645 20181003 RGD DNA:hyper-methylation:promoter: 1562668 Lamb3 laminin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1344175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31036833 1562668 Lamb3 laminin subunit beta 3 gene DOID:9000850 Junctional Epidermolysis Bullosa 1A, Intermediate ISO RGD:1344175 D RGD:7240710 20220608 OMIM 1562668 Lamb3 laminin subunit beta 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1344175 D RGD:7240710 20220608 OMIM 1562668 Lamb3 laminin subunit beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1344175 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15541073 1562668 Lamb3 laminin subunit beta 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344175 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562672 Arx aristaless related homeobox gene DOID:0050453 lissencephaly ISS RGD:1557424 D RGD:13592920 20180518 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 1562672 Arx aristaless related homeobox gene DOID:0050562 West syndrome ISO RGD:1557424 D RGD:11565833|PMID:19439424 20161129 RGD 1562672 Arx aristaless related homeobox gene DOID:0050709 early infantile epileptic encephalopathy ISS RGD:1557424 D RGD:13592920 20180518 MouseDO OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 1562672 Arx aristaless related homeobox gene DOID:0060309 syndromic X-linked intellectual disability ISS RGD:1557424 D RGD:13592920 20180913 MouseDO 1562672 Arx aristaless related homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344380 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562672 Arx aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1344380 D RGD:11565831|PMID:12177367 20161129 RGD DNA:missense mutation:cds:p.P353L (human) 1562672 Arx aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1557424 D RGD:11565840|PMID:19605412 20161129 RGD 1562672 Arx aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:11565846|PMID:17664401 20161129 RGD associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) 1562672 Arx aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:7240710 20130221 OMIM 1562672 Arx aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12177367|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:12874418|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15726411|PMID:15850492|PMID:16078051|PMID:16199547|PMID:16235064|PMID:16523516|PMID:16995578|PMID:17331656|PMID:17480217|PMID:17490853|PMID:17576681|PMID:17641262|PMID:17664401|PMID:17668384|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19507262|PMID:19606478|PMID:19738637|PMID:20148114|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21108397|PMID:21204215|PMID:21204226|PMID:21496008|PMID:22252899|PMID:22922607|PMID:23039062|PMID:23246292|PMID:23757202|PMID:24643514|PMID:24781210|PMID:25741868|PMID:26029707|PMID:26337422|PMID:26467025|PMID:28174645|PMID:28387369|PMID:28492532|PMID:29152528|PMID:29778428|PMID:30108342|PMID:30255221|PMID:31623504|PMID:31691806|PMID:3177452|PMID:32139178|PMID:32313153|PMID:32383243|PMID:32613771|PMID:33951346|PMID:5008734|PMID:8826464|PMID:9536098 1562672 Arx aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1557424 D RGD:11565838|PMID:19587282 20161129 RGD 1562672 Arx aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:7240710 20130425 OMIM 1562672 Arx aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:17641262|PMID:18414213|PMID:19439424|PMID:19738637|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21204215|PMID:21204226|PMID:21496008|PMID:25741868|PMID:26029707|PMID:28150386|PMID:28492532|PMID:30255221|PMID:3177452|PMID:32383243|PMID:32519823|PMID:33847015|PMID:5008734|PMID:8826464 1562672 Arx aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:7240710 20130425 OMIM 1562672 Arx aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome PMID:14722918|PMID:1605226|PMID:18414213|PMID:22252899|PMID:25741868|PMID:34298581 1562672 Arx aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:11565832|PMID:12379852 20161129 RGD DNA:mutations:multiple (human) 1562672 Arx aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:7240710 20130221 OMIM 1562672 Arx aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia PMID:11889467|PMID:11891829|PMID:12379852|PMID:12874405|PMID:12874418|PMID:14722918|PMID:17664401|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19738637|PMID:20300201|PMID:22252899|PMID:22922607|PMID:23246292|PMID:23757202|PMID:24781210|PMID:25741868|PMID:26029707|PMID:28492532|PMID:32139178 1562672 Arx aristaless related homeobox gene DOID:1059 intellectual disability ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722918|PMID:18414213|PMID:25741868|PMID:28492532 1562672 Arx aristaless related homeobox gene DOID:10908 hydrocephalus ISO RGD:1344380 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 1562672 Arx aristaless related homeobox gene DOID:12849 autistic disorder ISO RGD:1344380 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562672 Arx aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:11565843|PMID:24528893 20161129 RGD DNA:duplication:exon:c.428-451dup (human) 1562672 Arx aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:7240710 20130221 OMIM 1562672 Arx aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12640086|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:20506206|PMID:2080994|PMID:21204215|PMID:25741868|PMID:26029707|PMID:28492532|PMID:3177452|PMID:5008734|PMID:8826464 1562672 Arx aristaless related homeobox gene DOID:1826 epilepsy ISO RGD:1344380 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1562672 Arx aristaless related homeobox gene DOID:630 genetic disease ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14722918|PMID:15248097|PMID:16235064|PMID:16523516|PMID:17331656|PMID:17641262|PMID:18414213|PMID:18462864|PMID:20384723|PMID:20506206|PMID:21204215|PMID:21204226|PMID:21426321|PMID:21496008|PMID:23039062|PMID:25741868|PMID:26029707|PMID:26467025|PMID:28492532 1562672 Arx aristaless related homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344380 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 1562672 Arx aristaless related homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344380 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562672 Arx aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:11565836|PMID:15850492 20161129 RGD DNA:duplication:exon:c.428-451dup (human) 1562672 Arx aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:1599257|PMID:11971879 20070122 RGD DNA:missense mutation:cds:p.L33P (human) 1562672 Arx aristaless related homeobox gene DOID:9009131 Ventriculomegaly ISO RGD:1344380 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 1562672 Arx aristaless related homeobox gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1599258|PMID:16772326 20070122 RGD 1562673 Zg16b zymogen granule protein 16B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1562673 Zg16b zymogen granule protein 16B gene DOID:1826 epilepsy ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1562673 Zg16b zymogen granule protein 16B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1562673 Zg16b zymogen granule protein 16B gene DOID:630 genetic disease ISO RGD:1605005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562674 Ksr2 kinase suppressor of ras 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 1562674 Ksr2 kinase suppressor of ras 2 gene DOID:11981 morbid obesity ISO RGD:1351357 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 1562674 Ksr2 kinase suppressor of ras 2 gene DOID:630 genetic disease ISO RGD:1351357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562674 Ksr2 kinase suppressor of ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351357 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 1562674 Ksr2 kinase suppressor of ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351357 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 1562679 Epha10 EPH receptor A10 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347579 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1562679 Epha10 EPH receptor A10 gene DOID:630 genetic disease ISO RGD:1347579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562679 Epha10 EPH receptor A10 gene DOID:9002506 Autosomal Dominant Nonsyndromic Deafness 88 ISO RGD:1347579 D RGD:7240710 20230505 OMIM 1562682 Capn13 calpain 13 gene DOID:630 genetic disease ISO RGD:1349624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562686 Gse1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer ameliorates ISO RGD:1604378 D RGD:151361142|PMID:29367342 20220224 RGD 1562686 Gse1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1604378 D RGD:151361142|PMID:29367342 20220224 RGD 1562686 Gse1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1604378 D RGD:151361142|PMID:29367342 20220224 RGD 1562686 Gse1 Gse1 coiled-coil protein gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604378 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1562686 Gse1 Gse1 coiled-coil protein gene DOID:5419 schizophrenia ISO RGD:1604378 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562686 Gse1 Gse1 coiled-coil protein gene DOID:630 genetic disease ISO RGD:1604378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562689 Ifnlr1 interferon, lambda receptor 1 gene DOID:630 genetic disease ISO RGD:1603554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562689 Ifnlr1 interferon, lambda receptor 1 gene DOID:8893 psoriasis ISO RGD:1603554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 1562689 Ifnlr1 interferon, lambda receptor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1562691 Naxd NAD(P)HX dehydratase gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:28492532 1562691 Naxd NAD(P)HX dehydratase gene DOID:2222 factor X deficiency ISO RGD:1601864 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1562691 Naxd NAD(P)HX dehydratase gene DOID:630 genetic disease ISO RGD:1601864 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562691 Naxd NAD(P)HX dehydratase gene DOID:9000217 Stomach Neoplasms ISO RGD:1601864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1562691 Naxd NAD(P)HX dehydratase gene DOID:9000918 Disease Progression ISO RGD:1601864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1562691 Naxd NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:7240710 20190315 OMIM 1562691 Naxd NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209|PMID:35231119 1562691 Naxd NAD(P)HX dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1601864 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1562692 Atxn7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:7240710 20180425 OMIM 1562692 Atxn7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 7 PMID:25741868 1562692 Atxn7 ataxin 7 gene DOID:37 skin disease ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1562692 Atxn7 ataxin 7 gene DOID:480 movement disease ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 1562692 Atxn7 ataxin 7 gene DOID:630 genetic disease ISO RGD:1350255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562692 Atxn7 ataxin 7 gene DOID:9000343 Vision Disorders ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 1562692 Atxn7 ataxin 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 1562692 Atxn7 ataxin 7 gene DOID:9002563 Gait Ataxia ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 1562692 Atxn7 ataxin 7 gene DOID:9005219 Abnormal Reflexes ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 1562692 Atxn7 ataxin 7 gene DOID:9007964 Arsenic Poisoning ISO RGD:1350255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1562693 Rbmx2 RNA binding motif protein, X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345969 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562693 Rbmx2 RNA binding motif protein, X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1345969 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562693 Rbmx2 RNA binding motif protein, X-linked 2 gene DOID:630 genetic disease ISO RGD:1345969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISS RGD:1557600 D RGD:13592920 20180518 MouseDO OMIM:247200 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:10908 hydrocephalus ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25558065|PMID:25741868|PMID:30877278 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25558065|PMID:25741868|PMID:30877278 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:630 genetic disease ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29565416|PMID:30877278|PMID:32732226 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:9005766 Loucks-Innes Syndrome ISO RGD:1352320 D RGD:7240710 20190315 OMIM 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:9005766 Loucks-Innes Syndrome ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair | ClinVar Annotator: match by term: LOUCKS-INNES SYNDROME PMID:14744934|PMID:24895408|PMID:25558065|PMID:25741868|PMID:26220823|PMID:28492532|PMID:29362492|PMID:29410513|PMID:29565416|PMID:30877278|PMID:32595695|PMID:32732226 1562694 Dph1 diphthamide biosynthesis 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:30877278 1562696 Pot1 protection of telomeres 1 gene DOID:0080014 chromosomal disease ISO RGD:1344340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 1562696 Pot1 protection of telomeres 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1344340 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 1562696 Pot1 protection of telomeres 1 gene DOID:1037 lymphoid leukemia ISO RGD:1344340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23502782|PMID:24292274 1562696 Pot1 protection of telomeres 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344340 D RGD:151356939|PMID:18425352 20220218 RGD 1562696 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:151356947|PMID:19285750 20220218 RGD DNA:SNP: : rs10244817 (human) 1562696 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:151356948|PMID:32514122 20220218 RGD DNA:SNP: :p.V326A (rs75932146) (human) 1562696 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:151356949|PMID:27459707 20220218 RGD DNA:SNP: :rs116895242 (human) 1562696 Pot1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 1562696 Pot1 protection of telomeres 1 gene DOID:1949 cholecystitis ISO RGD:1344340 D RGD:151356941|PMID:28643740 20220218 RGD mRNA:decreased expression:gall bladder 1562696 Pot1 protection of telomeres 1 gene DOID:2394 ovarian cancer ISO RGD:1344340 D RGD:151356949|PMID:27459707 20220218 RGD DNA:SNP: :rs116895242 (human) 1562696 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1562696 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:7240710 20230517 OMIM 1562696 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:24686846|PMID:25482530|PMID:27329137|PMID:28393830|PMID:28393832|PMID:28492532|PMID:29625052|PMID:32907878 1562696 Pot1 protection of telomeres 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344340 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562696 Pot1 protection of telomeres 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1344340 D RGD:152975963|PMID:23907815 20220601 RGD associated with hepatitis B;DNA:SNP: :rs7784168(human) 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:7240710 20230517 OMIM 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977 1562696 Pot1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:7240710 20230517 OMIM 1562696 Pot1 protection of telomeres 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1344340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 1562696 Pot1 protection of telomeres 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 1562696 Pot1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:7240710 20230517 OMIM 1562696 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 1562696 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:151356943|PMID:32586834 20220218 RGD DNA:SNP: :rs2975843 (human) 1562696 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:151356949|PMID:27459707 20220218 RGD DNA:SNP: :rs116895242 (human) 1562696 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1344340 D RGD:151356940|PMID:25194444 20220218 RGD mRNA:increased expression:colorectum 1562698 Myo18a myosin XVIIIa gene DOID:10283 prostate cancer ISO RGD:1605490 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1562698 Myo18a myosin XVIIIa gene DOID:630 genetic disease ISO RGD:1605490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562698 Myo18a myosin XVIIIa gene DOID:9008386 Hydrops Fetalis ISO RGD:1605490 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 1562701 Frem3 FRAS1 related extracellular matrix 3 gene DOID:1470 major depressive disorder ISO RGD:1343703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26441752 1562701 Frem3 FRAS1 related extracellular matrix 3 gene DOID:630 genetic disease ISO RGD:1343703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562702 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:2717 Bloom syndrome ISO RGD:1348426 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562702 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:630 genetic disease ISO RGD:1348426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562702 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:9003566 Mesothelioma ISO RGD:1348426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 1562702 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:9256 colorectal cancer ISO RGD:1348426 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1318785 D RGD:7240710 20140911 OMIM 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1318785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:1059 intellectual disability ISO RGD:1318785 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:1826 epilepsy ISO RGD:1318785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:630 genetic disease ISO RGD:1318785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318785 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562703 Camta1 calmodulin binding transcription activator 1 gene DOID:9008582 Developmental Disease ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1562705 Shf Src homology 2 domain containing F gene DOID:0050712 AGAT deficiency ISO RGD:1602197 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1562705 Shf Src homology 2 domain containing F gene DOID:2717 Bloom syndrome ISO RGD:1602197 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562705 Shf Src homology 2 domain containing F gene DOID:630 genetic disease ISO RGD:1602197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562705 Shf Src homology 2 domain containing F gene DOID:9256 colorectal cancer ISO RGD:1602197 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562708 Scfd2 sec1 family domain containing 2 gene DOID:630 genetic disease ISO RGD:1348082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562710 Nmb neuromedin B gene DOID:2717 Bloom syndrome ISO RGD:1315040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562710 Nmb neuromedin B gene DOID:630 genetic disease ISO RGD:1315040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562710 Nmb neuromedin B gene DOID:9006202 Pruritus ISO RGD:1315040 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 1562710 Nmb neuromedin B gene DOID:9256 colorectal cancer ISO RGD:1315040 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562710 Nmb neuromedin B gene DOID:9970 obesity IEP D RGD:1642063|PMID:1709601 20070830 RGD protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss 1562710 Nmb neuromedin B gene DOID:9970 obesity ISO RGD:1315040 D RGD:1642062|PMID:11194934 20070830 RGD 1562710 Nmb neuromedin B gene DOID:9970 obesity susceptibility ISO RGD:1315040 D RGD:1642059|PMID:15585758 20070830 RGD 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0050952 spastic ataxia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:22833003|PMID:25059390|PMID:25741868|PMID:28492532|PMID:33190326|PMID:34445196 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:18571143 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:13208525|PMID:15192806 20170809 RGD DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:13208526|PMID:21959080 20170809 RGD DNA:snp:5' utr:c.-167A>G (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:13208580|PMID:16707726 20170814 RGD DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:13208581|PMID:18094336 20170814 RGD DNA:mutations:multiple (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:7240710 20130221 OMIM 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15192806|PMID:16969684|PMID:17031678|PMID:17344063|PMID:18094336|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22669416|PMID:22833003|PMID:23142375|PMID:24374284|PMID:25059390|PMID:25326635|PMID:25741868|PMID:26354221|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29276893|PMID:29389947|PMID:29906362|PMID:32488064|PMID:32581362|PMID:33190326|PMID:34445196|PMID:8733901 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1623025 D RGD:13208533|PMID:21750683 20170810 RGD DNA:missense mutation:cds:p.M282T (mouse) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:7240710 20130221 OMIM 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, IC PMID:20537300|PMID:21266381|PMID:25741868|PMID:28492532 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:13208577|PMID:19056803 20170814 RGD DNA:missense mutation:cds:p.I33M (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:7240710 20130425 OMIM 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 PMID:19056803|PMID:25741868|PMID:27057822|PMID:28492532 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:1059 intellectual disability ISO RGD:1346209 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:14330 Parkinson's disease treatment IEP D RGD:13208520|PMID:21561882 20170809 RGD 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346209 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:22351697|PMID:22833003|PMID:25741868|PMID:26467025|PMID:27860360|PMID:28492532|PMID:29906362 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:15192806|PMID:23143715|PMID:25741868|PMID:28492532|PMID:31319225 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1623025 D RGD:13208591|PMID:24597481 20170814 RGD protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:13208589|PMID:21266381 20170814 RGD DNA:missense mutations:cds:p.S48L, p.M210R (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:13208590|PMID:20537300 20170814 RGD DNA:missense mutations:cds:multiple (human) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:543 dystonia ISO RGD:1346209 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:607 paraplegia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15192806|PMID:17576681|PMID:18094336|PMID:20513814|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23142375|PMID:23143715|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26467025|PMID:27057822|PMID:27780564|PMID:27860360|PMID:28492532|PMID:29276893|PMID:29451896|PMID:29906362|PMID:31028937|PMID:31270756|PMID:31319225|PMID:31912665|PMID:33190326|PMID:34445196|PMID:8733901|PMID:9536098 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:630 genetic disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22351697|PMID:22833003|PMID:25741868|PMID:27860360|PMID:28492532|PMID:29906362 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:13208513|PMID:26415641 20170809 RGD 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1623025 D RGD:13208593|PMID:22461072 20170814 RGD protein:decreased expression:white matter of spinal cord, gap junction (mouse) 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346209 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18094336|PMID:25741868 1562712 Gjc2 gap junction protein, gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346209 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1562717 Abi3bp ABI family member 3 binding protein gene DOID:289 endometriosis ISO RGD:1349467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1562717 Abi3bp ABI family member 3 binding protein gene DOID:630 genetic disease ISO RGD:1349467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562720 Spmip9 sperm microtubule inner protein 9 gene DOID:630 genetic disease ISO RGD:1602971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562726 RGD1562726 similar to Putative protein C21orf62 homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1562726 RGD1562726 similar to Putative protein C21orf62 homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1343736 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1562726 RGD1562726 similar to Putative protein C21orf62 homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1562726 RGD1562726 similar to Putative protein C21orf62 homolog gene DOID:630 genetic disease ISO RGD:1343736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562726 RGD1562726 similar to Putative protein C21orf62 homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1343736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1562727 Aqp12a aquaporin 12A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562727 Aqp12a aquaporin 12A gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1562727 Aqp12a aquaporin 12A gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1346803 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1562727 Aqp12a aquaporin 12A gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346803 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1562727 Aqp12a aquaporin 12A gene DOID:1059 intellectual disability ISO RGD:1346803 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562727 Aqp12a aquaporin 12A gene DOID:630 genetic disease ISO RGD:1346803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562727 Aqp12a aquaporin 12A gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606540 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562735 Bcor BCL6 co-repressor gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 1562735 Bcor BCL6 co-repressor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1562735 Bcor BCL6 co-repressor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606540 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 1562735 Bcor BCL6 co-repressor gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1606540 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1562735 Bcor BCL6 co-repressor gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1606540 D RGD:1600504|PMID:15004558 20150728 RGD DNA:missense mutation:exon:254C>T (p.P85L) (human) 1562735 Bcor BCL6 co-repressor gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1606540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:24728327|PMID:25741868|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17517692 1562735 Bcor BCL6 co-repressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:1600504|PMID:15004558 20221028 RGD DNA:mutations:cds: 1562735 Bcor BCL6 co-repressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:7240710 20130221 OMIM 1562735 Bcor BCL6 co-repressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:15004558|PMID:15770227|PMID:16199547|PMID:16829040|PMID:18414213|PMID:19367324|PMID:21740180|PMID:22983184|PMID:23815237|PMID:24728327|PMID:25326637|PMID:25620158|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28317252|PMID:28492532|PMID:29974297|PMID:31048080 1562735 Bcor BCL6 co-repressor gene DOID:10534 stomach cancer disease_progression ISO RGD:1606540 D RGD:150340707|PMID:33145269 20210830 RGD 1562735 Bcor BCL6 co-repressor gene DOID:1059 intellectual disability ISO RGD:1606540 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:12849 autistic disorder ISO RGD:1606540 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562735 Bcor BCL6 co-repressor gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:1606540 D RGD:155631276|PMID:26248552 20221031 RGD associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR 1562735 Bcor BCL6 co-repressor gene DOID:2154 nephroblastoma ISO RGD:1606540 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1562735 Bcor BCL6 co-repressor gene DOID:216 dental caries susceptibility ISO RGD:1606540 D RGD:155631274|PMID:23470693 20221028 RGD DNA:SNP: : rs17145638(human) 1562735 Bcor BCL6 co-repressor gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1606540 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 1562735 Bcor BCL6 co-repressor gene DOID:3347 osteosarcoma ISO RGD:1606540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 1562735 Bcor BCL6 co-repressor gene DOID:4233 clear cell sarcoma ISO RGD:1606540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 1562735 Bcor BCL6 co-repressor gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1606540 D RGD:150340706|PMID:27313181 20210830 RGD 1562735 Bcor BCL6 co-repressor gene DOID:630 genetic disease ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26694549|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:83 cataract ISO RGD:1606540 D RGD:1600504|PMID:15004558 20221028 RGD DNA:mutations:cds: 1562735 Bcor BCL6 co-repressor gene DOID:83 cataract ISO RGD:1606540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24728327|PMID:26694549|PMID:28492532 1562735 Bcor BCL6 co-repressor gene DOID:9002265 Kidney Neoplasms ISO RGD:1606540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 1562735 Bcor BCL6 co-repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606540 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562735 Bcor BCL6 co-repressor gene DOID:9119 acute myeloid leukemia ISO RGD:1606540 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 1562735 Bcor BCL6 co-repressor gene DOID:9256 colorectal cancer treatment ISO RGD:1606540 D RGD:150340704|PMID:27880939 20210830 RGD 1562735 Bcor BCL6 co-repressor gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606540 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1562741 Otoa otoancorin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23173898|PMID:24033266|PMID:28492532|PMID:30303587 1562741 Otoa otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:7240710 20130221 OMIM 1562741 Otoa otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:11972037|PMID:17576681|PMID:19888295|PMID:23173898|PMID:23690975|PMID:23897863|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26434960|PMID:27068579|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31152317|PMID:31827275|PMID:33492714|PMID:33597575|PMID:35802133|PMID:36633841|PMID:9536098 1562741 Otoa otoancorin gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:35802133|PMID:36633841 1562741 Otoa otoancorin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1348640 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 1562741 Otoa otoancorin gene DOID:630 genetic disease ISO RGD:1348640 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532 1562741 Otoa otoancorin gene DOID:9004538 Hearing Loss ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 1562743 Igkc immunoglobulin kappa constant gene DOID:0080600 COVID-19 ISO RGD:1345887 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562743 Igkc immunoglobulin kappa constant gene DOID:11702 dysgammaglobulinemia ISO RGD:1345887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3931219 1562743 Igkc immunoglobulin kappa constant gene DOID:633 myositis ISO RGD:1345887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18821675 1562743 Igkc immunoglobulin kappa constant gene DOID:9005369 Hepatomegaly ISO RGD:1345887 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1562743 Igkc immunoglobulin kappa constant gene DOID:9007079 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY ISO RGD:1345887 D RGD:7240710 20171011 OMIM 1562743 Igkc immunoglobulin kappa constant gene DOID:9007079 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY ISO RGD:1345887 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Immunoglobulin kappa light chain deficiency PMID:3931219|PMID:815819 1562746 Gps2 G protein pathway suppressor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1562746 Gps2 G protein pathway suppressor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1562746 Gps2 G protein pathway suppressor 2 gene DOID:1059 intellectual disability ISO RGD:1317604 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1562746 Gps2 G protein pathway suppressor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317604 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1562746 Gps2 G protein pathway suppressor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317604 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1562746 Gps2 G protein pathway suppressor 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1562746 Gps2 G protein pathway suppressor 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317604 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1562746 Gps2 G protein pathway suppressor 2 gene DOID:630 genetic disease ISO RGD:1317604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562747 Eola2 endothelium and lymphocyte associated ASCH domain 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1562747 Eola2 endothelium and lymphocyte associated ASCH domain 2 gene DOID:12849 autistic disorder ISO RGD:1604879 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562749 Ctnnbip1 catenin, beta-interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1562749 Ctnnbip1 catenin, beta-interacting protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350422 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1562749 Ctnnbip1 catenin, beta-interacting protein 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1350422 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1562749 Ctnnbip1 catenin, beta-interacting protein 1 gene DOID:630 genetic disease ISO RGD:1350422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562761 Pabpn1l PABPN1 like gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:3078328 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1562761 Pabpn1l PABPN1 like gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:3078328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1562761 Pabpn1l PABPN1 like gene DOID:14780 KBG syndrome ISO RGD:3078328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 1562761 Pabpn1l PABPN1 like gene DOID:630 genetic disease ISO RGD:3078328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562761 Pabpn1l PABPN1 like gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:3078328 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:0050777 Joubert syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603805 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:0081097 Rafiq syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:1826 epilepsy ISO RGD:1603805 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:630 genetic disease ISO RGD:1603805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562762 Cimip2a ciliary microtubule inner protein 2A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1562767 Lypd6b Ly6/Plaur domain containing 6B gene DOID:630 genetic disease ISO RGD:1602653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562768 Zfp711 zinc finger protein 711 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1347410 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 1562768 Zfp711 zinc finger protein 711 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347410 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562768 Zfp711 zinc finger protein 711 gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1347410 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B 1562768 Zfp711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:7240710 20141015 OMIM 1562768 Zfp711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 PMID:10398247|PMID:19377476|PMID:25741868|PMID:27993705|PMID:28492532 1562768 Zfp711 zinc finger protein 711 gene DOID:1059 intellectual disability ISO RGD:1347410 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10398247|PMID:25741868|PMID:27993705 1562768 Zfp711 zinc finger protein 711 gene DOID:12849 autistic disorder ISO RGD:1347410 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562768 Zfp711 zinc finger protein 711 gene DOID:630 genetic disease ISO RGD:1347410 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562768 Zfp711 zinc finger protein 711 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1347410 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606579 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:12849 autistic disorder ISO RGD:1606579 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1606579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1606579 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 1562772 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606579 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562777 Bcl2l14 Bcl2-like 14 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1562777 Bcl2l14 Bcl2-like 14 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1603380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1562777 Bcl2l14 Bcl2-like 14 gene DOID:10286 prostate carcinoma ISO RGD:1603380 D RGD:2315712|PMID:14999772 20100108 RGD mRNA:decreased expression:prostate gland 1562777 Bcl2l14 Bcl2-like 14 gene DOID:630 genetic disease ISO RGD:1603380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562778 Trim72 tripartite motif containing 72 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603795 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1562778 Trim72 tripartite motif containing 72 gene DOID:630 genetic disease ISO RGD:1603795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562779 Lvrn laeverin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562779 Lvrn laeverin gene DOID:12849 autistic disorder ISO RGD:1604505 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562779 Lvrn laeverin gene DOID:630 genetic disease ISO RGD:1604505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562779 Lvrn laeverin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604505 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562779 Lvrn laeverin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562784 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1562784 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 gene DOID:1059 intellectual disability ISO RGD:1606938 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562784 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 gene DOID:12849 autistic disorder ISO RGD:1606938 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 1562784 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 gene DOID:630 genetic disease ISO RGD:1606938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562785 Lrrd1 leucine-rich repeats and death domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:5132687 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1562785 Lrrd1 leucine-rich repeats and death domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:5132687 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1562785 Lrrd1 leucine-rich repeats and death domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132687 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562785 Lrrd1 leucine-rich repeats and death domain containing 1 gene DOID:630 genetic disease ISO RGD:5132687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562788 Srbd1 S1 RNA binding domain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1562788 Srbd1 S1 RNA binding domain 1 gene DOID:630 genetic disease ISO RGD:1602705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1354040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:0110266 cataract 9 multiple types ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:0111962 combined immunodeficiency ISO RGD:1354040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:30498080 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:10608 celiac disease ISO RGD:1354040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:12849 autistic disorder ISO RGD:1354040 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:630 genetic disease ISO RGD:1354040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:8577 ulcerative colitis ISO RGD:1354040 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:891 progressive myoclonus epilepsy ISO RGD:1354040 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354040 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:9263 homocystinuria ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1562791 Icoslg inducible T-cell co-stimulator ligand gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1562792 Tdrd12 tudor domain containing 12 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2292096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1562792 Tdrd12 tudor domain containing 12 gene DOID:630 genetic disease ISO RGD:2292096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562793 Neurod6 neuronal differentiation 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343073 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562793 Neurod6 neuronal differentiation 6 gene DOID:630 genetic disease ISO RGD:1343073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1603039 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1603039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1603039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1562795 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1603039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562797 Cep192 centrosomal protein 192 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1605669 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1562797 Cep192 centrosomal protein 192 gene DOID:1059 intellectual disability ISO RGD:1605669 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562797 Cep192 centrosomal protein 192 gene DOID:630 genetic disease ISO RGD:1605669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562799 Cylc2 cylicin 2 gene DOID:1059 intellectual disability ISO RGD:1344761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562799 Cylc2 cylicin 2 gene DOID:630 genetic disease ISO RGD:1344761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562813 Cbln1 cerebellin 1 precursor gene DOID:630 genetic disease ISO RGD:1348062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562823 Rps19bp1 ribosomal protein S19 binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1562823 Rps19bp1 ribosomal protein S19 binding protein 1 gene DOID:630 genetic disease ISO RGD:1602664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562825 Chst13 carbohydrate sulfotransferase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1347829 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1562825 Chst13 carbohydrate sulfotransferase 13 gene DOID:0080600 COVID-19 ISO RGD:1347829 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562825 Chst13 carbohydrate sulfotransferase 13 gene DOID:630 genetic disease ISO RGD:1347829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562825 Chst13 carbohydrate sulfotransferase 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347829 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1562825 Chst13 carbohydrate sulfotransferase 13 gene DOID:9270 alkaptonuria ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1562826 Sppl3 signal peptide peptidase like 3 gene DOID:630 genetic disease ISO RGD:1605007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562829 Rerg RAS-like, estrogen-regulated, growth-inhibitor gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1349252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1562829 Rerg RAS-like, estrogen-regulated, growth-inhibitor gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1349252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1562829 Rerg RAS-like, estrogen-regulated, growth-inhibitor gene DOID:1612 breast cancer severity ISO RGD:1349252 D RGD:1304529|PMID:11533059 19990101 RGD mRNA:increased expression:breast (human) 1562829 Rerg RAS-like, estrogen-regulated, growth-inhibitor gene DOID:630 genetic disease ISO RGD:1349252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562830 Arl8b ADP-ribosylation factor like GTPase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351870 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562836 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602226 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1562836 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562836 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1602226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1562836 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1602226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562837 Sema4c semaphorin 4C gene DOID:0080600 COVID-19 ISO RGD:1354487 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1562837 Sema4c semaphorin 4C gene DOID:1059 intellectual disability ISO RGD:1354487 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562837 Sema4c semaphorin 4C gene DOID:5419 schizophrenia ISO RGD:1354487 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562837 Sema4c semaphorin 4C gene DOID:630 genetic disease ISO RGD:1354487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562840 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1562840 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606219 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1562840 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1606219 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562840 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562840 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606219 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562840 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1606219 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1562846 Dok5 docking protein 5 gene DOID:630 genetic disease ISO RGD:1343098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562852 Stra8 stimulated by retinoic acid 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604701 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562852 Stra8 stimulated by retinoic acid 8 gene DOID:630 genetic disease ISO RGD:1604701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562857 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1562857 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1604636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562860 Sel1l3 SEL1L family member 3 gene DOID:630 genetic disease ISO RGD:1604048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562861 Taok3 TAO kinase 3 gene DOID:10283 prostate cancer ISO RGD:1605388 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1562861 Taok3 TAO kinase 3 gene DOID:630 genetic disease ISO RGD:1605388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562861 Taok3 TAO kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605388 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562864 Pcdh11x protocadherin 11 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353305 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562864 Pcdh11x protocadherin 11 X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1353305 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 1562864 Pcdh11x protocadherin 11 X-linked gene DOID:10652 Alzheimer's disease ISO RGD:1353305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19136949 1562864 Pcdh11x protocadherin 11 X-linked gene DOID:10652 Alzheimer's disease ISO RGD:1353305 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:29476165 1562864 Pcdh11x protocadherin 11 X-linked gene DOID:12849 autistic disorder ISO RGD:1353305 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562864 Pcdh11x protocadherin 11 X-linked gene DOID:630 genetic disease ISO RGD:1353305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:7240710 20190515 OMIM 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868|PMID:28492532|PMID:28530713 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:10608 celiac disease ISO RGD:1319503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:12306 vitiligo ISO RGD:1319503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:630 genetic disease ISO RGD:1319503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:8778 Crohn's disease ISO RGD:1319503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 1562865 Bach2 BTB domain and CNC homolog 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1319503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 1562866 Kxd1 KxDL motif containing 1 gene DOID:3753 Hermansky-Pudlak syndrome ISS RGD:1622240 D RGD:13592920 20180518 MouseDO 1562866 Kxd1 KxDL motif containing 1 gene DOID:630 genetic disease ISO RGD:1601969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562866 Kxd1 KxDL motif containing 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1601969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1562868 Serpinb3a serpin family B member 3A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351173 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1562868 Serpinb3a serpin family B member 3A gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1351173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1562868 Serpinb3a serpin family B member 3A gene DOID:10283 prostate cancer ISO RGD:1351173 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1562868 Serpinb3a serpin family B member 3A gene DOID:2773 contact dermatitis ISO RGD:1351173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1562868 Serpinb3a serpin family B member 3A gene DOID:630 genetic disease ISO RGD:1351173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562868 Serpinb3a serpin family B member 3A gene DOID:9003281 Spontaneous Abortions ISO RGD:1351173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1562875 Rbak RB-associated KRAB zinc finger gene DOID:10283 prostate cancer ISO RGD:1602691 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1562875 Rbak RB-associated KRAB zinc finger gene DOID:11372 megacolon ISO RGD:1602691 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1562875 Rbak RB-associated KRAB zinc finger gene DOID:630 genetic disease ISO RGD:1602691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562880 Slc48a1 solute carrier family 48 member 1 gene DOID:630 genetic disease ISO RGD:1604345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0050860 colorectal adenoma ISO RGD:1345581 D RGD:13217408|PMID:21122381 20170912 RGD 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1345581 D RGD:13217408|PMID:21122381 20170912 RGD 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345581 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:esophagus (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345581 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:2526 prostate adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNALincreased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:4450 renal cell carcinoma ISO RGD:1345581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17437058|PMID:25401301 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:6039 uveal melanoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:uvea (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:630 genetic disease ISO RGD:1345581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 1562883 Birc7 baculoviral IAP repeat-containing 7 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1345581 D RGD:153344528|PMID:17253596 20220822 RGD mRNA:increased expression:pleura, lung (human) 1562885 RGD1562885 similar to RIKEN cDNA 2300002M23 gene DOID:0050553 JMP syndrome ISO RGD:1348540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1562885 RGD1562885 similar to RIKEN cDNA 2300002M23 gene DOID:11372 megacolon ISO RGD:1348540 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1562885 RGD1562885 similar to RIKEN cDNA 2300002M23 gene DOID:630 genetic disease ISO RGD:1348540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562885 RGD1562885 similar to RIKEN cDNA 2300002M23 gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1348540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:31690835 1562895 Hdac8 histone deacetylase 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344478 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562895 Hdac8 histone deacetylase 8 gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1344478 D RGD:13208817|PMID:22889856 20170817 RGD DNA:snp:intron:c.164+5G>A (human) 1562895 Hdac8 histone deacetylase 8 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:26671848|PMID:30158690 1562895 Hdac8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:11068490|PMID:24403048 20170817 RGD DNA:missense mutations, deletions, duplication:multiple (human) 1562895 Hdac8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:13208817|PMID:22889856 20170919 RGD DNA:snp:intron:c.164+5G>A (human) 1562895 Hdac8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:7240710 20150701 OMIM 1562895 Hdac8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19605684|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24088041|PMID:24375697|PMID:24403048|PMID:25075551|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25574841|PMID:25640679|PMID:25741868|PMID:26463496|PMID:26633545|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:29293505|PMID:30158690|PMID:9536098 1562895 Hdac8 histone deacetylase 8 gene DOID:10487 Hirschsprung's disease ISO RGD:1344478 D RGD:13208819|PMID:16771768 20170817 RGD protein:decreased expression:colon (human) 1562895 Hdac8 histone deacetylase 8 gene DOID:1059 intellectual disability ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22885700|PMID:24038889|PMID:24403048|PMID:25741868|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532 1562895 Hdac8 histone deacetylase 8 gene DOID:10763 hypertension IEP D RGD:13208602|PMID:28567090 20170814 RGD protein:decreased expression:heart (mouse, rat) 1562895 Hdac8 histone deacetylase 8 gene DOID:12849 autistic disorder ISO RGD:1344478 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562895 Hdac8 histone deacetylase 8 gene DOID:1591 renovascular hypertension treatment IEP D RGD:13208809|PMID:27673327 20170816 RGD 1562895 Hdac8 histone deacetylase 8 gene DOID:1882 atrial heart septal defect ISO RGD:1344478 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1562895 Hdac8 histone deacetylase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344478 D RGD:13208820|PMID:15888697 20170817 RGD mRNA:decreased expression:lung (human) 1562895 Hdac8 histone deacetylase 8 gene DOID:630 genetic disease ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146185|PMID:15146186|PMID:17640042|PMID:18414213|PMID:19886810|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24403048|PMID:24718998|PMID:25075551|PMID:25209348|PMID:25741868|PMID:26463496|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:30158690 1562895 Hdac8 histone deacetylase 8 gene DOID:670 amphetamine abuse IEP D RGD:9681719|PMID:25452209 20170816 RGD mRNA:decreased expression:striatum (rat) 1562895 Hdac8 histone deacetylase 8 gene DOID:8445 intestinal volvulus ISO RGD:1344478 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1562895 Hdac8 histone deacetylase 8 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1344478 D RGD:13208819|PMID:16771768 20170919 RGD protein:decreased expression:colon (human) 1562895 Hdac8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:9681716|PMID:23868068 20170817 RGD associated with Hypertension 1562895 Hdac8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1558090 D RGD:13208811|PMID:25504627 20170816 RGD 1562895 Hdac8 histone deacetylase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344478 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562895 Hdac8 histone deacetylase 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1344478 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26671848 1562895 Hdac8 histone deacetylase 8 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344478 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1562899 Rep15 RAB15 effector protein gene DOID:630 genetic disease ISO RGD:2306721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562902 S100z S100 calcium binding protein Z gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 1562902 S100z S100 calcium binding protein Z gene DOID:630 genetic disease ISO RGD:1348648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562902 S100z S100 calcium binding protein Z gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348648 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:7240710 20130221 OMIM 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:16199547|PMID:16951682|PMID:17576681|PMID:17928815|PMID:18022865|PMID:20301737|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:25741868|PMID:28492532|PMID:9536098 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1606763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:303 substance-related disorder ISO RGD:1606763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606763 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606763 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562906 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606763 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 1562909 Dcp2 decapping mRNA 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562909 Dcp2 decapping mRNA 2 gene DOID:630 genetic disease ISO RGD:1349747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562909 Dcp2 decapping mRNA 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349747 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562909 Dcp2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1562909 Dcp2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1562910 Noto notochord homeobox gene DOID:0050473 Alstrom syndrome ISO RGD:1348141 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1562910 Noto notochord homeobox gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1348141 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1562910 Noto notochord homeobox gene DOID:543 dystonia ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1562910 Noto notochord homeobox gene DOID:630 genetic disease ISO RGD:1348141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562910 Noto notochord homeobox gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1562911 Ccdc24 coiled-coil domain containing 24 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 1562911 Ccdc24 coiled-coil domain containing 24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603566 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1562911 Ccdc24 coiled-coil domain containing 24 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 1562911 Ccdc24 coiled-coil domain containing 24 gene DOID:630 genetic disease ISO RGD:1603566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562914 Pou2af2 POU class 2 homeobox associating factor 2 gene DOID:1059 intellectual disability ISO RGD:1605809 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562914 Pou2af2 POU class 2 homeobox associating factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605809 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1562914 Pou2af2 POU class 2 homeobox associating factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605809 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1562920 Aig1 androgen-induced 1 gene DOID:630 genetic disease ISO RGD:1346084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562922 Asb10 ankyrin repeat and SOCS box-containing 10 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1562922 Asb10 ankyrin repeat and SOCS box-containing 10 gene DOID:2843 long QT syndrome ISO RGD:1353086 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1562922 Asb10 ankyrin repeat and SOCS box-containing 10 gene DOID:630 genetic disease ISO RGD:1353086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10037570|PMID:28492532 1562922 Asb10 ankyrin repeat and SOCS box-containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:7240710 20130814 OMIM 1562922 Asb10 ankyrin repeat and SOCS box-containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, F PMID:10037570|PMID:22156576|PMID:25741868|PMID:28492532 1562928 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:0080600 COVID-19 ISO RGD:1354459 D RGD:30296676|PMID:32416070 20200616 RGD protein:increased expression:serum: 1562928 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:10533 viral pneumonia ISO RGD:1354459 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1562928 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:418 systemic scleroderma ISO RGD:1354459 D RGD:5135279|PMID:21303517 20110719 RGD protein:increased expression:serum, skin, endothelial cell 1562928 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1354459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562928 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1562933 Oaz2 ornithine decarboxylase antizyme 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344023 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1562933 Oaz2 ornithine decarboxylase antizyme 2 gene DOID:2717 Bloom syndrome ISO RGD:1344023 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1562933 Oaz2 ornithine decarboxylase antizyme 2 gene DOID:9256 colorectal cancer ISO RGD:1344023 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1562935 Tprn taperin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352518 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:20170899|PMID:30303587 1562935 Tprn taperin gene DOID:0050777 Joubert syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1562935 Tprn taperin gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1562935 Tprn taperin gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1562935 Tprn taperin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1562935 Tprn taperin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1562935 Tprn taperin gene DOID:0081097 Rafiq syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1562935 Tprn taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:7240710 20130221 OMIM 1562935 Tprn taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 79 PMID:20170898|PMID:20170899|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30303587 1562935 Tprn taperin gene DOID:1826 epilepsy ISO RGD:1352518 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1562935 Tprn taperin gene DOID:630 genetic disease ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1562935 Tprn taperin gene DOID:9004538 Hearing Loss ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 1562935 Tprn taperin gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1562939 Acap2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 gene DOID:630 genetic disease ISO RGD:1347120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562940 Prpf38b pre-mRNA processing factor 38B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1605670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1562940 Prpf38b pre-mRNA processing factor 38B gene DOID:12849 autistic disorder ISO RGD:1605670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562940 Prpf38b pre-mRNA processing factor 38B gene DOID:630 genetic disease ISO RGD:1605670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562940 Prpf38b pre-mRNA processing factor 38B gene DOID:9002189 High Myopia ISO RGD:1605670 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1562941 Cd177 CD177 molecule gene DOID:5419 schizophrenia ISO RGD:1603627 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562941 Cd177 CD177 molecule gene DOID:630 genetic disease ISO RGD:1603627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562943 Selenov selenoprotein V gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1562943 Selenov selenoprotein V gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1562943 Selenov selenoprotein V gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1562943 Selenov selenoprotein V gene DOID:2340 craniosynostosis ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1562943 Selenov selenoprotein V gene DOID:630 genetic disease ISO RGD:1603489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562943 Selenov selenoprotein V gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1562943 Selenov selenoprotein V gene DOID:9269 maple syrup urine disease ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1562943 Selenov selenoprotein V gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1562947 Arl13a ADP ribosylation factor like GTPase 13A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343034 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562947 Arl13a ADP ribosylation factor like GTPase 13A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1343034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1562947 Arl13a ADP ribosylation factor like GTPase 13A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1343034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1562947 Arl13a ADP ribosylation factor like GTPase 13A gene DOID:12849 autistic disorder ISO RGD:1343034 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562947 Arl13a ADP ribosylation factor like GTPase 13A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343034 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562947 Arl13a ADP ribosylation factor like GTPase 13A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1343034 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1562949 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:630 genetic disease ISO RGD:1321299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562949 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 1562949 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 1562949 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321299 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1562949 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9270 alkaptonuria ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353231 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:33504798|PMID:34782662|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:8012387|PMID:8320699|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9634530|PMID:9934976 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1353231 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353231 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:2476 hereditary spastic paraplegia ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353231 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22343157|PMID:22695888|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:9007428 Muscle Spasticity ISO RGD:1353231 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Spasticity 1562951 Rab9b RAB9B, member RAS oncogene family gene DOID:9008086 Developmental Disabilities ISO RGD:1353231 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay 1562952 Erbin erbb2 interacting protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1562952 Erbin erbb2 interacting protein gene DOID:10283 prostate cancer ISO RGD:1321667 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1562952 Erbin erbb2 interacting protein gene DOID:630 genetic disease ISO RGD:1321667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562952 Erbin erbb2 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321667 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562958 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:12336 male infertility ISO RGD:1351559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 1562958 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1351559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562958 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 1562958 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:11554207|PMID:23632792 20161025 RGD DNA:duplication,deletion: : 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:9590163|PMID:23055267 20161025 RGD DNA:missense mutations:cds: 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1344111 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISS RGD:1623858 D RGD:13592920 20180518 MouseDO 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:7240710 20130731 OMIM 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:21981781|PMID:22726846|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33427406|PMID:9536098 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1623858 D RGD:11554204|PMID:26942102 20161025 RGD 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344111 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: developmental delay with intractable seizures PMID:26467025|PMID:28492532 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:1059 intellectual disability ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:30763456 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:10907 microcephaly ISO RGD:1344111 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:12849 autistic disorder ISO RGD:1344111 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:1826 epilepsy ISO RGD:1344111 D RGD:8554872 20190827 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:5419 schizophrenia ISO RGD:1344111 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:630 genetic disease ISO RGD:1344111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847001|PMID:21981781|PMID:23055267|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28492532|PMID:30763456 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1344111 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344111 D RGD:11554206|PMID:23422940 20161025 RGD DNA:deletion,duplication,mutation:: 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344111 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 1562961 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1344111 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532 1562963 C17h6orf52 similar to human chromosome 6 open reading frame 52 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1348700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 1562963 C17h6orf52 similar to human chromosome 6 open reading frame 52 gene DOID:630 genetic disease ISO RGD:1348700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562965 Rab11fip1 RAB11 family interacting protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1562965 Rab11fip1 RAB11 family interacting protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1562965 Rab11fip1 RAB11 family interacting protein 1 gene DOID:607 paraplegia ISO RGD:1347457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1562965 Rab11fip1 RAB11 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562967 Mctp2 multiple C2 and transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1603987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1562968 Ssbp2 single-stranded DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1344325 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1562968 Ssbp2 single-stranded DNA binding protein 2 gene DOID:3312 bipolar disorder ISO RGD:1344325 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1562968 Ssbp2 single-stranded DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1344325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562968 Ssbp2 single-stranded DNA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18559593 1562968 Ssbp2 single-stranded DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344325 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1562969 Ttyh2 tweety family member 2 gene DOID:630 genetic disease ISO RGD:1354269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562974 Qrich2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:7240710 20190315 OMIM 1562974 Qrich2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 35 PMID:25741868|PMID:31110204|PMID:31292949 1562974 Qrich2 glutamine rich 2 gene DOID:630 genetic disease ISO RGD:1604772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562975 Kdm1a lysine demethylase 1A gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346422 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 1562975 Kdm1a lysine demethylase 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1346422 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1562975 Kdm1a lysine demethylase 1A gene DOID:1059 intellectual disability ISO RGD:1346422 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1562975 Kdm1a lysine demethylase 1A gene DOID:1612 breast cancer IEP D RGD:9588313|PMID:23516587 20141028 RGD protein:increased expression:breast (rat) 1562975 Kdm1a lysine demethylase 1A gene DOID:1612 breast cancer severity ISO RGD:1346422 D RGD:9586031|PMID:22199269 20141003 RGD mRNA:increased expression:breast (human) 1562975 Kdm1a lysine demethylase 1A gene DOID:1909 melanoma ISO RGD:1346422 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1562975 Kdm1a lysine demethylase 1A gene DOID:224 transient cerebral ischemia IEP D RGD:9588301|PMID:20542065 20141024 RGD protein:increased expression:cerebral cortex, hippocampus, dentate gyrus (rat) 1562975 Kdm1a lysine demethylase 1A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 1562975 Kdm1a lysine demethylase 1A gene DOID:5419 schizophrenia IEP D RGD:9586022|PMID:23932495 20141027 RGD protein:altered expression:prefrontal cortex (rat) 1562975 Kdm1a lysine demethylase 1A gene DOID:630 genetic disease ISO RGD:1346422 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1562975 Kdm1a lysine demethylase 1A gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346422 D RGD:9681002|PMID:23236241 20141126 RGD mRNA, protein:increased expression:liver (human) 1562975 Kdm1a lysine demethylase 1A gene DOID:8947 diabetic retinopathy IEP D RGD:8547881|PMID:23423566 20141028 RGD mRNA, protein:increased expression:retina (rat) 1562975 Kdm1a lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1346422 D RGD:8547881|PMID:23423566 20141028 RGD mRNA:increased expression:retina (human) 1562975 Kdm1a lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1558503 D RGD:8547881|PMID:23423566 20141028 RGD 1562975 Kdm1a lysine demethylase 1A gene DOID:9000918 Disease Progression ISO RGD:1346422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 1562975 Kdm1a lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:7240710 20160210 OMIM 1562975 Kdm1a lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies PMID:23020937|PMID:24838796|PMID:25741868|PMID:26656649|PMID:27094131|PMID:28492532 1562975 Kdm1a lysine demethylase 1A gene DOID:9001827 Critical Illness ISO RGD:1346422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 1562975 Kdm1a lysine demethylase 1A gene DOID:9002221 Hyperplasia ISO RGD:1346422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 1562975 Kdm1a lysine demethylase 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:1346422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 1562975 Kdm1a lysine demethylase 1A gene DOID:9004118 Experimental Melanoma ISO RGD:1346422 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1562975 Kdm1a lysine demethylase 1A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 1562975 Kdm1a lysine demethylase 1A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1562975 Kdm1a lysine demethylase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1346422 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Global developmental delay 1562975 Kdm1a lysine demethylase 1A gene DOID:986 alopecia areata ISO RGD:1346422 D RGD:9587460|PMID:21936853 20141015 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:0060058 lymphoma ISO RGD:1345718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11980663 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1345718 D RGD:11075072|PMID:22699455 20160505 RGD DNA:mutations: : 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1345718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:7240710 20190315 OMIM 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 PMID:21548011|PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1345718 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:3307 teratoma ISO RGD:1345718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:33738286|REF_RGD_ID:151347632 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1345718 D RGD:150540324|PMID:32787735 20211231 RGD protein:increased expression:lung (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345718 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1345718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26981933|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:32319000|PMID:32499645|PMID:32531373 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345718 D RGD:150540326|PMID:25301737 20211231 RGD protein:increased expression:liver (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:8577 ulcerative colitis ISO RGD:1345718 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345718 D RGD:150540328|PMID:31320627 20211231 RGD associated with colorectal cancer;DNA:polymorphisms: 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1345718 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:1345718 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1345718 D RGD:150540322|PMID:29780264 20211231 RGD DNA:hypermethylation:promoter (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1345718 D RGD:150540329|PMID:31010820 20211231 RGD DNA:hypermethylation:promoter (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:150540320|PMID:25928810 20211231 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:150540323|PMID:29796114 20211231 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:150540325|PMID:21737484 20211231 RGD DNA:hypermethylation:promoter (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:150540327|PMID:33478584 20211231 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:150540317|PMID:31909823 20211231 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:150540319|PMID:27726312 20211231 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:150540321|PMID:29992492 20211231 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:151347633|PMID:32958500 20220131 RGD DNA:hypermethylation: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer severity ISO RGD:1345718 D RGD:150540328|PMID:31320627 20211231 RGD DNA:polymorphisms: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345718 D RGD:150540318|PMID:33723131 20211231 RGD DNA:SNP:3' utr: (rs6964823) (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345718 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19684604 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345718 D RGD:151347631|PMID:24786325 20220131 RGD DNA:SNPs: (human) 1562979 Ikzf1 IKAROS family zinc finger 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 PMID:25741868|PMID:28492532 1562983 Mob2 MOB kinase activator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1562983 Mob2 MOB kinase activator 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602095 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1562983 Mob2 MOB kinase activator 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602095 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1562983 Mob2 MOB kinase activator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1562983 Mob2 MOB kinase activator 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602095 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1562983 Mob2 MOB kinase activator 2 gene DOID:630 genetic disease ISO RGD:1602095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562983 Mob2 MOB kinase activator 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602095 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1562983 Mob2 MOB kinase activator 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1602095 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1562986 Bmp10 bone morphogenetic protein 10 gene DOID:630 genetic disease ISO RGD:1353352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562986 Bmp10 bone morphogenetic protein 10 gene DOID:6419 tetralogy of Fallot ISS RGD:1558624 D RGD:13592920 20180518 MouseDO OMIM:187500 1562986 Bmp10 bone morphogenetic protein 10 gene DOID:9000784 Fibrosis ISO RGD:1353352 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:31712309 1562986 Bmp10 bone morphogenetic protein 10 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2302083|PMID:17921333 20081118 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle 1562986 Bmp10 bone morphogenetic protein 10 gene DOID:9651 systolic heart failure ISO RGD:1353352 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:31712309 1562987 C18h18orf32 similar to human chromosome 18 open reading frame 32 gene DOID:1059 intellectual disability ISO RGD:1626573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562987 C18h18orf32 similar to human chromosome 18 open reading frame 32 gene DOID:630 genetic disease ISO RGD:1626573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562987 C18h18orf32 similar to human chromosome 18 open reading frame 32 gene DOID:9003554 Glycosylphosphatidylinositol Biosynthesis Defect 25 ISO RGD:1626573 D RGD:7240710 20220810 OMIM 1562988 Epb41l4b erythrocyte membrane protein band 4.1 like 4B gene DOID:630 genetic disease ISO RGD:1320612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:0050476 Barth syndrome ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:0050800 creatine transporter deficiency ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1604614 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:10588 adrenoleukodystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:12849 autistic disorder ISO RGD:1604614 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:13628 favism ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:607 paraplegia ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:630 genetic disease ISO RGD:1604614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562991 Haus7 HAUS augmin-like complex, subunit 7 gene DOID:9002720 Splenomegaly ISO RGD:1604614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1562996 Zscan20 zinc finger and SCAN domain containing 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353276 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1562996 Zscan20 zinc finger and SCAN domain containing 20 gene DOID:630 genetic disease ISO RGD:1353276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1562997 Taf4b TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:7240710 20140911 OMIM 1562997 Taf4b TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 13 PMID:24431330 1562997 Taf4b TATA-box binding protein associated factor 4b gene DOID:1059 intellectual disability ISO RGD:1319196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1562997 Taf4b TATA-box binding protein associated factor 4b gene DOID:630 genetic disease ISO RGD:1319196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563000 Glipr1l1 GLIPR1 like 1 gene DOID:630 genetic disease ISO RGD:1605255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1602994 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:20972249 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:2717 Bloom syndrome ISO RGD:1602994 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:607 paraplegia ISO RGD:1602994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:630 genetic disease ISO RGD:1602994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:7240710 20211020 OMIM 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 86 PMID:23472171|PMID:30127434 1563001 Sppl2a signal peptide peptidase-like 2A gene DOID:9256 colorectal cancer ISO RGD:1602994 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1606123 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:7240710 20191211 OMIM 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 40 PMID:25741868|PMID:28552195|PMID:31413122|PMID:31501240|PMID:31571197 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:10283 prostate cancer ISO RGD:1606123 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:5419 schizophrenia ISO RGD:1606123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:630 genetic disease ISO RGD:1606123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563002 Cfap65 cilia and flagella associated protein 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606123 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1353015 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:630 genetic disease ISO RGD:1353015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:6420 pulmonary valve stenosis ISO RGD:1353015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:8445 intestinal volvulus ISO RGD:1353015 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1353015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353015 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1563006 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353015 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1563011 Trat1 T cell receptor associated transmembrane adaptor 1 gene DOID:11372 megacolon ISO RGD:1350612 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1563011 Trat1 T cell receptor associated transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1350612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer ISO RGD:1348400 D RGD:2293535|PMID:12368219 20080603 RGD mRNA:decreased expression:prostate gland 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer severity ISO RGD:1348400 D RGD:2293534|PMID:15166229 20080603 RGD protein:increased expression:prostate gland 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:11372 megacolon ISO RGD:1348400 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348400 D RGD:2293533|PMID:16580389 20080603 RGD protein:increased expression:endometrium 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1348400 D RGD:2293536|PMID:11561770 20080603 RGD protein:decreased expression:breast 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:4001 ovarian carcinoma ISO RGD:1348400 D RGD:2293537|PMID:11161850 20080603 RGD mRNA:increased expression:ovary 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:630 genetic disease ISO RGD:1348400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563014 Ncoa4 nuclear receptor coactivator 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 1563018 Fcrlb Fc receptor-like B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1605583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 1563018 Fcrlb Fc receptor-like B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1563018 Fcrlb Fc receptor-like B gene DOID:1540 parathyroid carcinoma ISO RGD:1605583 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563018 Fcrlb Fc receptor-like B gene DOID:630 genetic disease ISO RGD:1605583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563018 Fcrlb Fc receptor-like B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605583 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563019 Il36g interleukin 36, gamma gene DOID:289 endometriosis ISO RGD:1351778 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 1563019 Il36g interleukin 36, gamma gene DOID:630 genetic disease ISO RGD:1351778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563020 Ptchd4 patched domain containing 4 gene DOID:630 genetic disease ISO RGD:1606357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563022 Zfhx4 zinc finger homeobox 4 gene DOID:630 genetic disease ISO RGD:1346362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563022 Zfhx4 zinc finger homeobox 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346362 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16946494|PMID:21802062|PMID:24033266|PMID:24440720|PMID:25741868|PMID:33057194 1563022 Zfhx4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:7240710 20130731 OMIM 1563022 Zfhx4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 PMID:25741868|PMID:28492532 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1604609 D RGD:8554872 20210615 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604609 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604609 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604609 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:28492532 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1563027 Otud5 OTU deubiquitinase 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1563027 Otud5 OTU deubiquitinase 5 gene DOID:12849 autistic disorder ISO RGD:1604609 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563027 Otud5 OTU deubiquitinase 5 gene DOID:3070 high grade glioma ISO RGD:1604609 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1563027 Otud5 OTU deubiquitinase 5 gene DOID:630 genetic disease ISO RGD:1604609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33523931 1563027 Otud5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:7240710 20210317 OMIM 1563027 Otud5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked PMID:25741868|PMID:33131077|PMID:33523931 1563028 Appl2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:303 substance-related disorder ISO RGD:1605653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1563028 Appl2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:630 genetic disease ISO RGD:1605653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563028 Appl2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1563030 Tafa1 TAFA chemokine like family member 1 gene DOID:630 genetic disease ISO RGD:1347131 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563034 Erfl ETS repressor factor like gene DOID:5419 schizophrenia ISO RGD:14696661 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563037 Tmem185a transmembrane protein 185A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1563037 Tmem185a transmembrane protein 185A gene DOID:12849 autistic disorder ISO RGD:1347995 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563037 Tmem185a transmembrane protein 185A gene DOID:630 genetic disease ISO RGD:1347995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563046 Cer1 cerberus 1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1347243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563046 Cer1 cerberus 1, DAN family BMP antagonist gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:1347243 D RGD:35673321|PMID:19113921 20200713 RGD DNA:SNPs: :rs3747532, rs1494360(human) 1563047 Bpifb1 BPI fold containing family B, member 1 gene DOID:630 genetic disease ISO RGD:1343435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563056 C5h6orf163 similar to human chromosome 6 open reading frame 163 gene DOID:630 genetic disease ISO RGD:1604202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563060 C18h5orf46 similar to human chromosome 5 open reading frame 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563060 C18h5orf46 similar to human chromosome 5 open reading frame 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605197 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563060 C18h5orf46 similar to human chromosome 5 open reading frame 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563061 Defb15 defensin beta 15 gene DOID:630 genetic disease ISO RGD:1604881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563062 Gxylt1 glucoside xylosyltransferase 1 gene DOID:13938 amenorrhea ISO RGD:1606923 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1563062 Gxylt1 glucoside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563065 Nwd2 NACHT and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1603203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563070 Gpr137c G protein-coupled receptor 137C gene DOID:630 genetic disease ISO RGD:1603253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563072 RGD1563072 similar to hypothetical protein FLJ38984 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602984 D RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1563072 RGD1563072 similar to hypothetical protein FLJ38984 gene DOID:630 genetic disease ISO RGD:1602984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563073 Siglec8 sialic acid binding Ig-like lectin 8 gene DOID:630 genetic disease ISO RGD:1351533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563077 Zfp90 zinc finger protein 90 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1563077 Zfp90 zinc finger protein 90 gene DOID:630 genetic disease ISO RGD:1350266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563078 Mageb5 MAGE family member B5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349538 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563078 Mageb5 MAGE family member B5 gene DOID:12849 autistic disorder ISO RGD:1349538 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563078 Mageb5 MAGE family member B5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349538 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606538 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:7240710 20190731 OMIM 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 20 PMID:25741868|PMID:28492532|PMID:30661770|PMID:31732614 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:1184 nephrotic syndrome ISO RGD:1606538 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:31732614 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:12849 autistic disorder ISO RGD:1606538 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563084 Tbc1d8b TBC1 domain family member 8B gene DOID:630 genetic disease ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563085 Rmdn1 regulator of microtubule dynamics 1 gene DOID:630 genetic disease ISO RGD:1606009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563086 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606099 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563086 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1563086 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1563086 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0080600 COVID-19 ISO RGD:1606099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563086 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:12849 autistic disorder ISO RGD:1606099 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563086 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:630 genetic disease ISO RGD:1606099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563090 Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 gene DOID:0060356 Vici syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1563090 Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISS RGD:1558463 D RGD:13592920 20230202 MouseDO OMIM:259680 1563090 Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1352589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563090 Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 gene DOID:13677 SAPHO syndrome ISO RGD:1352589 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 1563090 Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 gene DOID:630 genetic disease ISO RGD:1352589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563090 Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352589 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:0050117 disease by infectious agent ISO RGD:1352885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1352885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1352885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868|PMID:28492532|PMID:30046003 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:0080170 normophosphatemic familial tumoral calcinosis ISO RGD:1352885 D RGD:7240710 20150527 OMIM 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:0080170 normophosphatemic familial tumoral calcinosis ISO RGD:1352885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis PMID:16960814|PMID:18094730|PMID:25741868|PMID:28346228|PMID:28492532 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352885 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:5295 intestinal disease ISO RGD:1352885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:630 genetic disease ISO RGD:1352885 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16960814|PMID:18094730|PMID:24029230|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28492532|PMID:29365320|PMID:29506479|PMID:30046003|PMID:31208161|PMID:31231135|PMID:31309983|PMID:31638924|PMID:33237688|PMID:34621053 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9001488 Human Influenza ISO RGD:1352885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1352885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1352885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352885 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9003302 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 ISO RGD:1352885 D RGD:7240710 20201223 OMIM 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9003302 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 ISO RGD:1352885 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 PMID:2569483|PMID:25741868|PMID:28487541|PMID:30046003|PMID:33237688|PMID:34621053 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9009218 MIRAGE Syndrome ISO RGD:1352885 D RGD:7240710 20190315 OMIM 1563091 Samd9 sterile alpha motif domain containing 9 gene DOID:9009218 MIRAGE Syndrome ISO RGD:1352885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MIRAGE syndrome PMID:16960814|PMID:18094730|PMID:24029230|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28492532|PMID:29266745|PMID:29365320|PMID:29506479|PMID:30046003|PMID:31208161|PMID:31231135|PMID:31620126|PMID:31638924|PMID:31666768|PMID:32106287|PMID:33237688|PMID:34621053 1563095 Zfp853 zinc finger protein 853 gene DOID:630 genetic disease ISO RGD:2302454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563101 Klhl15 kelch-like family member 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351915 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563101 Klhl15 kelch-like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:7240710 20190315 OMIM 1563101 Klhl15 kelch-like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 PMID:24817631|PMID:25644381|PMID:25741868 1563101 Klhl15 kelch-like family member 15 gene DOID:12849 autistic disorder ISO RGD:1351915 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563101 Klhl15 kelch-like family member 15 gene DOID:630 genetic disease ISO RGD:1351915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563101 Klhl15 kelch-like family member 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351915 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563105 Dnai3 dynein axonemal intermediate chain 3 gene DOID:630 genetic disease ISO RGD:1605003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563105 Dnai3 dynein axonemal intermediate chain 3 gene DOID:9000983 Encephalocele ISO RGD:1605003 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Occipital encephalocele PMID:29285825 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604790 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1604790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:182 calcinosis ISO RGD:1604790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:2493 gastric antral vascular ectasia ISO RGD:1604790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23172776|PMID:23220793|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28135719|PMID:28492532|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:30891747|PMID:30995915|PMID:31785789|PMID:34573280|PMID:34706368|PMID:9536098 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:630 genetic disease ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1604790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1604790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1604790 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats plus syndrome PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:7240710 20190501 OMIM 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:16199547|PMID:16943371|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30523342|PMID:30891747|PMID:34573280 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1604790 D RGD:8554872 20170131 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 1563106 Ctc1 CST telomere replication complex component 1 gene DOID:936 brain disease ISO RGD:1604790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1344496 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0110266 cataract 9 multiple types ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:7240710 20140911 OMIM 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:34042254 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:7240710 20190315 OMIM 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis PMID:17576681|PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254|PMID:35741818|PMID:9536098 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:12849 autistic disorder ISO RGD:1344496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:2661 myoepithelioma ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:3007 breast ductal carcinoma ISO RGD:1344496 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:630 genetic disease ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:26969326|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:7240710 20230104 OMIM 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 10 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344496 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:9004538 Hearing Loss ISO RGD:1344496 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:9263 homocystinuria ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1563108 Tspear thrombospondin-type laminin G domain and EAR repeats gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1563109 Tmem212 transmembrane protein 212 gene DOID:1062 Fanconi syndrome ISO RGD:2300031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1563109 Tmem212 transmembrane protein 212 gene DOID:630 genetic disease ISO RGD:2300031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563114 Asb4 ankyrin repeat and SOCS box-containing 4 gene DOID:10591 pre-eclampsia ISS RGD:1557659 D RGD:13592920 20180518 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 1563114 Asb4 ankyrin repeat and SOCS box-containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348810 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563114 Asb4 ankyrin repeat and SOCS box-containing 4 gene DOID:630 genetic disease ISO RGD:1348810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563119 Mef2c myocyte enhancer factor 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1349172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20412115 1563119 Mef2c myocyte enhancer factor 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1349172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:20513142|PMID:25741868|PMID:26633542|PMID:28492532|PMID:29468350|PMID:29720203|PMID:30376817|PMID:30504930|PMID:30763456|PMID:33994118|PMID:34055696 1563119 Mef2c myocyte enhancer factor 2C gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1349172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 1563119 Mef2c myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:7240710 20130221 OMIM 1563119 Mef2c myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE PMID:16199547|PMID:17576681|PMID:18414213|PMID:19592390|PMID:19876902|PMID:20333642|PMID:20513142|PMID:20674574|PMID:22031302|PMID:22498567|PMID:23001426|PMID:23389741|PMID:24088041|PMID:25131622|PMID:25741868|PMID:25741869|PMID:26633542|PMID:26633545|PMID:27255693|PMID:27748065|PMID:28492532|PMID:28554332|PMID:28794905|PMID:29159939|PMID:29468350|PMID:29706646|PMID:29720203|PMID:29863696|PMID:30376817|PMID:30504930|PMID:30763456|PMID:31512412|PMID:32123317|PMID:33994118|PMID:34022131|PMID:34055696|PMID:7679508|PMID:9384584|PMID:9536098 1563119 Mef2c myocyte enhancer factor 2C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563119 Mef2c myocyte enhancer factor 2C gene DOID:1059 intellectual disability ISO RGD:1349172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20412115 1563119 Mef2c myocyte enhancer factor 2C gene DOID:1059 intellectual disability ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:20513142|PMID:25741868|PMID:28492532|PMID:29720203|PMID:30376817|PMID:30763456 1563119 Mef2c myocyte enhancer factor 2C gene DOID:12849 autistic disorder ISO RGD:1349172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19131610 1563119 Mef2c myocyte enhancer factor 2C gene DOID:12930 dilated cardiomyopathy ISO RGD:1621607 D RGD:1580546|PMID:16469744 20081002 RGD 1563119 Mef2c myocyte enhancer factor 2C gene DOID:1824 status epilepticus IEP D RGD:5131610|PMID:18949272 20110505 RGD mRNA:increased expression:dentate gyrus 1563119 Mef2c myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1349172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18949272 1563119 Mef2c myocyte enhancer factor 2C gene DOID:1826 epilepsy ISO RGD:1349172 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:20412115|PMID:29942082 1563119 Mef2c myocyte enhancer factor 2C gene DOID:1826 epilepsy ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 1563119 Mef2c myocyte enhancer factor 2C gene DOID:2303 stereotypic movement disorder ISO RGD:1349172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20412115 1563119 Mef2c myocyte enhancer factor 2C gene DOID:5844 myocardial infarction treatment IMP D RGD:7327215|PMID:23948075 20130917 RGD 1563119 Mef2c myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:9384584 1563119 Mef2c myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:32123317|PMID:34022131|PMID:9384584 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9001793 Generalized Epilepsy ISO RGD:1349172 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349172 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349172 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34022131 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1621607 D RGD:5131608|PMID:20041152 20110505 RGD 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312263|PMID:18413674 20110505 RGD mRNA:increased expression:heart 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563119 Mef2c myocyte enhancer factor 2C gene DOID:9255 frontotemporal dementia ISO RGD:1349172 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 1563120 Slx4ip SLX4 interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1563120 Slx4ip SLX4 interacting protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1563120 Slx4ip SLX4 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1563120 Slx4ip SLX4 interacting protein gene DOID:630 genetic disease ISO RGD:1352856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563120 Slx4ip SLX4 interacting protein gene DOID:9245 Alagille syndrome ISO RGD:1352856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350466 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350466 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:2843 long QT syndrome ISO RGD:1350466 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350466 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:630 genetic disease ISO RGD:1350466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350466 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9007661 Dwarfism ISO RGD:1350466 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1563121 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9008582 Developmental Disease ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1563123 Sec14l1 SEC14-like lipid binding 1 gene DOID:630 genetic disease ISO RGD:1320418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563123 Sec14l1 SEC14-like lipid binding 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1320418 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 1563125 LOC500827 similar to hypothetical protein FLJ35821 gene DOID:0050777 Joubert syndrome ISO RGD:1605567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 1563125 LOC500827 similar to hypothetical protein FLJ35821 gene DOID:630 genetic disease ISO RGD:1605567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563127 Bahd1 bromo adjacent homology domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1345980 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563127 Bahd1 bromo adjacent homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1345980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563127 Bahd1 bromo adjacent homology domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1345980 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563128 Arl5c ADP-ribosylation factor like GTPase 5C gene DOID:630 genetic disease ISO RGD:1316723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563130 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2937319 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1563130 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3312 bipolar disorder ISO RGD:2937319 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1563130 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3883 Lynch syndrome ISO RGD:2937319 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1563130 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:630 genetic disease ISO RGD:2937319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563131 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346670 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563131 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1563131 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1346670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563131 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:630 genetic disease ISO RGD:1346670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563131 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 1563132 Pcdhb2 protocadherin beta 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1316874 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1563132 Pcdhb2 protocadherin beta 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316874 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563132 Pcdhb2 protocadherin beta 2 gene DOID:630 genetic disease ISO RGD:1316874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563132 Pcdhb2 protocadherin beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316874 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563132 Pcdhb2 protocadherin beta 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316874 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563141 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1563141 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322098 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1563141 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1563141 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 1563141 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563142 Pabpc1l poly(A) binding protein, cytoplasmic 1-like gene DOID:2234 focal epilepsy ISO RGD:1346773 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1563142 Pabpc1l poly(A) binding protein, cytoplasmic 1-like gene DOID:630 genetic disease ISO RGD:1346773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563142 Pabpc1l poly(A) binding protein, cytoplasmic 1-like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1346773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1563142 Pabpc1l poly(A) binding protein, cytoplasmic 1-like gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1346773 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 1 1563144 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1351197 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1563144 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563144 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9001924 RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE ISO RGD:1351197 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE PMID:32591345 1563144 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1351197 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1345309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:2843 long QT syndrome ISO RGD:1345309 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:5419 schizophrenia ISS RGD:1557097 D RGD:13592920 20180518 MouseDO OMIM:181500 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1345309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1345309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345309 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345309 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563152 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1563155 H2ap H2A.P histone gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353521 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563155 H2ap H2A.P histone gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1353521 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 1563155 H2ap H2A.P histone gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353521 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1563155 H2ap H2A.P histone gene DOID:12849 autistic disorder ISO RGD:1353521 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563155 H2ap H2A.P histone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353521 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563155 H2ap H2A.P histone gene DOID:9007661 Dwarfism ISO RGD:1353521 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1563155 H2ap H2A.P histone gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353521 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1563155 H2ap H2A.P histone gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1563163 Rmi2 RecQ mediated genome instability 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1563163 Rmi2 RecQ mediated genome instability 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1563163 Rmi2 RecQ mediated genome instability 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1563163 Rmi2 RecQ mediated genome instability 2 gene DOID:630 genetic disease ISO RGD:1606180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563164 Gtse1 G-2 and S-phase expressed 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1350308 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1563164 Gtse1 G-2 and S-phase expressed 1 gene DOID:0080600 COVID-19 ISO RGD:1350308 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563164 Gtse1 G-2 and S-phase expressed 1 gene DOID:1059 intellectual disability ISO RGD:1350308 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563164 Gtse1 G-2 and S-phase expressed 1 gene DOID:630 genetic disease ISO RGD:1350308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563164 Gtse1 G-2 and S-phase expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350308 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563166 Kbtbd8 kelch repeat and BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1606999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563167 Gas2 growth arrest-specific 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1563167 Gas2 growth arrest-specific 2 gene DOID:10003 sensorineural hearing loss ISS RGD:1558248 D RGD:13592920 20220616 MouseDO 1563167 Gas2 growth arrest-specific 2 gene DOID:1059 intellectual disability ISO RGD:1348959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563167 Gas2 growth arrest-specific 2 gene DOID:630 genetic disease ISO RGD:1348959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563167 Gas2 growth arrest-specific 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1348959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1319873 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:630 genetic disease ISO RGD:1319873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563168 Celf3 CUGBP, Elav-like family member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319873 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563170 Gmnc geminin coiled-coil domain containing gene DOID:5419 schizophrenia ISO RGD:5455041 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563170 Gmnc geminin coiled-coil domain containing gene DOID:630 genetic disease ISO RGD:5455041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563172 Dkk4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:0090039 torsion dystonia 6 ISO RGD:1318528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1563172 Dkk4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:0111959 immunodeficiency 15B ISO RGD:1318528 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1563172 Dkk4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:630 genetic disease ISO RGD:1318528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563172 Dkk4 dickkopf WNT signaling pathway inhibitor 4 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1318528 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1563175 Fam221a family with sequence similarity 221, member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604475 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563175 Fam221a family with sequence similarity 221, member A gene DOID:630 genetic disease ISO RGD:1604475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563178 Eda ectodysplasin-A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348155 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563178 Eda ectodysplasin-A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:1598881|PMID:8696334 20061220 RGD 1563178 Eda ectodysplasin-A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:7240710 20130221 OMIM 1563178 Eda ectodysplasin-A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10469321|PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18688569|PMID:18821982|PMID:19278982|PMID:19438931|PMID:19504606|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:19960895|PMID:20077893|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23687000|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24631698|PMID:24648697|PMID:24689965|PMID:24715423|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25640679|PMID:25741868|PMID:25846883|PMID:26273176|PMID:26345974|PMID:26502894|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27264909|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:29676859|PMID:30088137|PMID:30117778|PMID:31306530|PMID:31489414|PMID:31652981|PMID:31796081|PMID:31852928|PMID:31924237|PMID:33502802|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 1563178 Eda ectodysplasin-A gene DOID:10754 otitis media ISO RGD:1557590 D RGD:14398763|PMID:31028034 20190430 RGD 1563178 Eda ectodysplasin-A gene DOID:12849 autistic disorder ISO RGD:1348155 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563178 Eda ectodysplasin-A gene DOID:13714 anodontia ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:19278982|PMID:19623212|PMID:24033266|PMID:24487376|PMID:25741868|PMID:26753551|PMID:27144394|PMID:28492532 1563178 Eda ectodysplasin-A gene DOID:14693 Clouston syndrome ISO RGD:12147212 D RGD:9068941 20220630 OMIA Anhidrotic ectodermal dysplasia, EDA-related PMID:15500478|PMID:15946744|PMID:16151697|PMID:17924345|PMID:19533784|PMID:20078794|PMID:21730053|PMID:23441037|PMID:27449516|PMID:30276836|PMID:30397018|PMID:31122682|PMID:32482291|PMID:34076266|PMID:3710892|PMID:4055508|PMID:5462764|PMID:579352|PMID:6746381|PMID:9419891 1563178 Eda ectodysplasin-A gene DOID:14737 craniofrontonasal syndrome ISO RGD:1348155 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 1563178 Eda ectodysplasin-A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18821982|PMID:19278982|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24648697|PMID:24689965|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:30117778|PMID:31306530|PMID:31796081|PMID:31924237|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 1563178 Eda ectodysplasin-A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1557590 D RGD:14398763|PMID:31028034 20190430 RGD 1563178 Eda ectodysplasin-A gene DOID:14793 hypohidrotic ectodermal dysplasia ISS RGD:1557590 D RGD:13592920 20180518 MouseDO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 1563178 Eda ectodysplasin-A gene DOID:1909 melanoma ISO RGD:1348155 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1563178 Eda ectodysplasin-A gene DOID:2121 ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia PMID:19921643|PMID:21357618|PMID:25741868|PMID:28492532 1563178 Eda ectodysplasin-A gene DOID:630 genetic disease ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12947561|PMID:19623212|PMID:22032522|PMID:24033266|PMID:28492532 1563178 Eda ectodysplasin-A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:7240710 20130221 OMIM 1563178 Eda ectodysplasin-A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 PMID:16583127|PMID:17256800|PMID:18545687|PMID:18657636|PMID:19278982|PMID:19623212|PMID:24312213|PMID:25741868|PMID:26753551|PMID:27144394|PMID:27305980|PMID:27657131|PMID:28492532|PMID:8696334|PMID:9683615 1563179 Bcl6b BCL6B, transcription repressor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349060 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1563179 Bcl6b BCL6B, transcription repressor gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1349060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1563179 Bcl6b BCL6B, transcription repressor gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1349060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1563179 Bcl6b BCL6B, transcription repressor gene DOID:12177 common variable immunodeficiency ISO RGD:1349060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1563179 Bcl6b BCL6B, transcription repressor gene DOID:2729 dyskeratosis congenita ISO RGD:1349060 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1563179 Bcl6b BCL6B, transcription repressor gene DOID:630 genetic disease ISO RGD:1349060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563190 Antxrl1 ANTXR like 1 gene DOID:5419 schizophrenia ISO RGD:1602061 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563191 Tigit T cell immunoreceptor with Ig and ITIM domains gene DOID:630 genetic disease ISO RGD:1606681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:10283 prostate cancer ISO RGD:1348696 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:14228 oligospermia ISO RGD:1348696 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34822792 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:630 genetic disease ISO RGD:1348696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9002321 Teratozoospermia ISO RGD:1348696 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34822792 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348696 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563192 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:2729 dyskeratosis congenita ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:3910 lung adenocarcinoma ISO RGD:1602892 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:630 genetic disease ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:9536098 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:6771380|PMID:8557821 20120731 RGD 1563195 Rangrf RAN guanine nucleotide release factor gene DOID:9006205 Animal Disease Models ISO RGD:1602892 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1563197 Aadacl2 arylacetamide deacetylase-like 2 gene DOID:630 genetic disease ISO RGD:1606396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563202 Med11 mediator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1606637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563203 Samd10 sterile alpha motif domain containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1563203 Samd10 sterile alpha motif domain containing 10 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1563203 Samd10 sterile alpha motif domain containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1563203 Samd10 sterile alpha motif domain containing 10 gene DOID:630 genetic disease ISO RGD:1351691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563205 Otulinl OTU deubiquitinase with linear linkage specificity like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1563207 Epsti1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1563207 Epsti1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563207 Epsti1 epithelial stromal interaction 1 gene DOID:10283 prostate cancer ISO RGD:1353297 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1563207 Epsti1 epithelial stromal interaction 1 gene DOID:630 genetic disease ISO RGD:1353297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563208 Gmeb1 glucocorticoid modulatory element binding protein 1 gene DOID:630 genetic disease ISO RGD:1603227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563213 Gspt2 G1 to S phase transition 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354196 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563213 Gspt2 G1 to S phase transition 2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1354196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 1563213 Gspt2 G1 to S phase transition 2 gene DOID:12849 autistic disorder ISO RGD:1354196 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563213 Gspt2 G1 to S phase transition 2 gene DOID:630 genetic disease ISO RGD:1354196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1319881 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1319881 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:7240710 20170315 OMIM 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29359243|PMID:29470032 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:1059 intellectual disability ISO RGD:1319881 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:630 genetic disease ISO RGD:1319881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563216 Isca2 iron-sulfur cluster assembly 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319881 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:0060019 coronin-1A deficiency ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:0060041 autism spectrum disorder ISO RGD:2306470 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:2306470 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:2306470 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:2306470 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:1227 neutropenia ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:12849 autistic disorder ISO RGD:2306470 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:1882 atrial heart septal defect ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:5419 schizophrenia ISO RGD:2306470 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:630 genetic disease ISO RGD:2306470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2306470 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:2306470 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1563217 C1h16orf92 similar to human chromosome 16 open reading frame 92 gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:2306470 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 1563222 C3h11orf91 similar to human chromosome 11 open reading frame 91 gene DOID:1059 intellectual disability ISO RGD:2301118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563222 C3h11orf91 similar to human chromosome 11 open reading frame 91 gene DOID:630 genetic disease ISO RGD:2301118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563223 Zfp74 zinc finger protein 74 gene DOID:630 genetic disease ISO RGD:1354291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563223 Zfp74 zinc finger protein 74 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1563224 Tmem65 transmembrane protein 65 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603356 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1563224 Tmem65 transmembrane protein 65 gene DOID:630 genetic disease ISO RGD:1603356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563224 Tmem65 transmembrane protein 65 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1563228 Dus3l dihydrouridine synthase 3-like gene DOID:630 genetic disease ISO RGD:1604330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563235 Ccsap centriole, cilia and spindle-associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602440 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563235 Ccsap centriole, cilia and spindle-associated protein gene DOID:630 genetic disease ISO RGD:1602440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563235 Ccsap centriole, cilia and spindle-associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602440 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563236 Yjefn3 YjeF N-terminal domain containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:1605797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1563236 Yjefn3 YjeF N-terminal domain containing 3 gene DOID:630 genetic disease ISO RGD:1605797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563238 Cyren cell cycle regulator of NHEJ gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602100 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563238 Cyren cell cycle regulator of NHEJ gene DOID:630 genetic disease ISO RGD:1602100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563239 Zfp566 zinc finger protein 566 gene DOID:630 genetic disease ISO RGD:1349368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563240 Ervfrd-1 endogenous retrovirus group FRD member 1, envelope gene DOID:630 genetic disease ISO RGD:1606632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:7240710 20221102 OMIM 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:31609649 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:0111942 immunodeficiency 25 ISO RGD:1607069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:1540 parathyroid carcinoma ISO RGD:1607069 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:630 genetic disease ISO RGD:1607069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1607069 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:23332756|PMID:23806086|PMID:25322266 1563245 Gpr161 G protein-coupled receptor 161 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607069 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563246 Rspo3 R-spondin 3 gene DOID:630 genetic disease ISO RGD:1345376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563246 Rspo3 R-spondin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345376 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563246 Rspo3 R-spondin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468756 1563248 Tmem130 transmembrane protein 130 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605559 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563248 Tmem130 transmembrane protein 130 gene DOID:630 genetic disease ISO RGD:1605559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563250 Tmem205 transmembrane protein 205 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1563250 Tmem205 transmembrane protein 205 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1563250 Tmem205 transmembrane protein 205 gene DOID:0111254 glutaric acidemia I ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1563250 Tmem205 transmembrane protein 205 gene DOID:3413 alpha-mannosidosis ISO RGD:1605798 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1563250 Tmem205 transmembrane protein 205 gene DOID:630 genetic disease ISO RGD:1605798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563253 Sumf2 sulfatase modifying factor 2 gene DOID:0050441 mucosulfatidosis ISO RGD:1349479 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:12757706 1563253 Sumf2 sulfatase modifying factor 2 gene DOID:0050724 PSPH deficiency ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 1563253 Sumf2 sulfatase modifying factor 2 gene DOID:12849 autistic disorder ISO RGD:1349479 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563253 Sumf2 sulfatase modifying factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349479 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563253 Sumf2 sulfatase modifying factor 2 gene DOID:630 genetic disease ISO RGD:1349479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1606469 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:21326233 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:7240710 20130221 OMIM 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 PMID:17690910|PMID:21326233|PMID:21660509|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32682410|PMID:9286457 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1606469 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23510777|PMID:24033266|PMID:25741868 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:630 genetic disease ISO RGD:1606469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606469 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563255 Gipc3 GIPC PDZ domain containing family, member 3 gene DOID:9004538 Hearing Loss ISO RGD:1606469 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386|PMID:32682410 1563257 Aadacl3 arylacetamide deacetylase-like 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1563257 Aadacl3 arylacetamide deacetylase-like 3 gene DOID:630 genetic disease ISO RGD:1602438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563260 Nap1l2 nucleosome assembly protein 1-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345486 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563260 Nap1l2 nucleosome assembly protein 1-like 2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1345486 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 1563260 Nap1l2 nucleosome assembly protein 1-like 2 gene DOID:0080600 COVID-19 ISO RGD:1345486 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563260 Nap1l2 nucleosome assembly protein 1-like 2 gene DOID:12849 autistic disorder ISO RGD:1345486 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563260 Nap1l2 nucleosome assembly protein 1-like 2 gene DOID:630 genetic disease ISO RGD:1345486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563261 Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 gene DOID:0050952 spastic ataxia ISO RGD:1346928 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1563261 Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:7240710 20140903 OMIM 1563261 Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 PMID:22065524|PMID:25741868|PMID:28492532|PMID:33116287 1563261 Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 gene DOID:219 colon cancer ISO RGD:1346928 D RGD:13432047|PMID:15123805 20170914 RGD DNA:hypermethylation 1563261 Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1346928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563262 Tmem154 transmembrane protein 154 gene DOID:630 genetic disease ISO RGD:1603167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563263 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0050444 infantile Refsum disease ISO RGD:3543119 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1563263 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:3543119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1563263 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:1059 intellectual disability ISO RGD:3543119 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563263 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:905 Zellweger syndrome ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 1563268 Brsk1 BR serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1353238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563269 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1347798 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 1563269 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1563269 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:10283 prostate cancer ISO RGD:1347798 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1563269 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:630 genetic disease ISO RGD:1347798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563271 Gsap gamma-secretase activating protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604809 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563271 Gsap gamma-secretase activating protein gene DOID:630 genetic disease ISO RGD:1604809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563271 Gsap gamma-secretase activating protein gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604809 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1563272 Magec2 MAGE family member C2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1563272 Magec2 MAGE family member C2 gene DOID:12849 autistic disorder ISO RGD:1351080 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563272 Magec2 MAGE family member C2 gene DOID:630 genetic disease ISO RGD:1351080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563272 Magec2 MAGE family member C2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351080 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563273 Zfp879 zinc finger protein 879 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1563273 Zfp879 zinc finger protein 879 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1563273 Zfp879 zinc finger protein 879 gene DOID:0112103 Sotos syndrome 1 ISO RGD:3029695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1563273 Zfp879 zinc finger protein 879 gene DOID:630 genetic disease ISO RGD:3029695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563278 Dzip3 DAZ interacting zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1602727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563279 Sbk2 SH3 domain binding kinase family, member 2 gene DOID:630 genetic disease ISO RGD:2302831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1344985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344985 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:1344985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344985 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:1344985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:22019070|PMID:25583628|PMID:25741868|PMID:26173962|PMID:26467025|PMID:28492532 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:0111741 X-linked deafness 5 ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:10003 sensorineural hearing loss ISO RGD:1344985 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:10283 prostate cancer ISO RGD:1344985 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:10579 leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1344985 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344985 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1344985 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:574 peripheral nervous system disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:870 neuropathy ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 1563280 Rab33a RAB33A, member RAS oncogene family gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:1344985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 1563281 Lrrc3c leucine rich repeat containing 3C gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:5131999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1563281 Lrrc3c leucine rich repeat containing 3C gene DOID:630 genetic disease ISO RGD:5131999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563283 Tspyl2 TSPY-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346364 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563283 Tspyl2 TSPY-like 2 gene DOID:12849 autistic disorder ISO RGD:1346364 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563283 Tspyl2 TSPY-like 2 gene DOID:630 genetic disease ISO RGD:1346364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563283 Tspyl2 TSPY-like 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346364 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 1563286 Tmem164 transmembrane protein 164 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604569 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563286 Tmem164 transmembrane protein 164 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1604569 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:27811305|PMID:28089922 1563286 Tmem164 transmembrane protein 164 gene DOID:12849 autistic disorder ISO RGD:1604569 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563286 Tmem164 transmembrane protein 164 gene DOID:5419 schizophrenia ISO RGD:1604569 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563286 Tmem164 transmembrane protein 164 gene DOID:630 genetic disease ISO RGD:1604569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563286 Tmem164 transmembrane protein 164 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1563290 Pcyox1l prenylcysteine oxidase 1 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563290 Pcyox1l prenylcysteine oxidase 1 like gene DOID:630 genetic disease ISO RGD:1604601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563290 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604601 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563290 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:0060224 atrial fibrillation ISO RGD:1319696 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:7240710 20130221 OMIM 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG IIi | ClinVar Annotator: match by term: COG5-CDG PMID:16199547|PMID:17576681|PMID:19690088|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31572517|PMID:32174980|PMID:33277529|PMID:9536098 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319696 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:630 genetic disease ISO RGD:1319696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1563296 Cog5 component of oligomeric golgi complex 5 gene DOID:9006549 Enterovirus Infections ISO RGD:1319696 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 1563297 Tfap2e transcription factor AP-2 epsilon gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352189 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1563297 Tfap2e transcription factor AP-2 epsilon gene DOID:630 genetic disease ISO RGD:1352189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563299 Smr3a submaxillary gland androgen regulated protein 3A gene DOID:630 genetic disease ISO RGD:1349580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563299 Smr3a submaxillary gland androgen regulated protein 3A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349580 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1563309 Dgkd diacylglycerol kinase, delta gene DOID:0050561 Lennox-Gastaut syndrome ISS RGD:1323100 D RGD:13592920 20180518 MouseDO OMIM:606369 1563309 Dgkd diacylglycerol kinase, delta gene DOID:0060476 Perlman syndrome ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1563309 Dgkd diacylglycerol kinase, delta gene DOID:0110991 Joubert syndrome 22 ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1563309 Dgkd diacylglycerol kinase, delta gene DOID:630 genetic disease ISO RGD:1323099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563309 Dgkd diacylglycerol kinase, delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323099 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 1563315 Fam53a family with sequence similarity 53, member A gene DOID:1856 cherubism ISO RGD:1604984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1563315 Fam53a family with sequence similarity 53, member A gene DOID:630 genetic disease ISO RGD:1604984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0080773 delta beta-thalassemia ISO RGD:5132175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0111969 immunodeficiency 39 ISO RGD:5132175 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:5132175 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:630 genetic disease ISO RGD:5132175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563319 Ifitm10 interferon induced transmembrane protein 10 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:5132175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1563321 Egfl6 EGF-like-domain, multiple 6 gene DOID:0050777 Joubert syndrome ISO RGD:1354247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 1563321 Egfl6 EGF-like-domain, multiple 6 gene DOID:12849 autistic disorder ISO RGD:1354247 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563321 Egfl6 EGF-like-domain, multiple 6 gene DOID:630 genetic disease ISO RGD:1354247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563321 Egfl6 EGF-like-domain, multiple 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354247 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563323 C1h11orf80 similar to human chromosome 11 open reading frame 80 gene DOID:1059 intellectual disability ISO RGD:1605958 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563323 C1h11orf80 similar to human chromosome 11 open reading frame 80 gene DOID:630 genetic disease ISO RGD:1605958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563323 C1h11orf80 similar to human chromosome 11 open reading frame 80 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605958 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1563323 C1h11orf80 similar to human chromosome 11 open reading frame 80 gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:7240710 20190619 OMIM 1563323 C1h11orf80 similar to human chromosome 11 open reading frame 80 gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 PMID:25741868|PMID:30388401 1563323 C1h11orf80 similar to human chromosome 11 open reading frame 80 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1563328 Vstm5 V-set and transmembrane domain containing 5 gene DOID:1059 intellectual disability ISO RGD:2301112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563328 Vstm5 V-set and transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:2301112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563329 Dchs2 dachsous cadherin-related 2 gene DOID:10283 prostate cancer ISO RGD:1603301 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563329 Dchs2 dachsous cadherin-related 2 gene DOID:630 genetic disease ISO RGD:1603301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563331 Btbd17 BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:2301265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563332 Eqtn equatorin gene DOID:630 genetic disease ISO RGD:1342522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563342 Fbrsl1 fibrosin-like 1 gene DOID:0060224 atrial fibrillation ISO RGD:2303695 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1563342 Fbrsl1 fibrosin-like 1 gene DOID:630 genetic disease ISO RGD:2303695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563342 Fbrsl1 fibrosin-like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:2303695 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1563342 Fbrsl1 fibrosin-like 1 gene DOID:9256 colorectal cancer ISO RGD:2303695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1563344 Otud1 OTU deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1344729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563347 Rftn1 raftlin lipid raft linker 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1563347 Rftn1 raftlin lipid raft linker 1 gene DOID:1686 glaucoma IEP D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (rat) 1563347 Rftn1 raftlin lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1604380 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 1563347 Rftn1 raftlin lipid raft linker 1 gene DOID:630 genetic disease ISO RGD:1604380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563348 Selenoh selenoprotein H gene DOID:0050860 colorectal adenoma ISO RGD:1354417 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:increased expression:colorectum (human) 1563348 Selenoh selenoprotein H gene DOID:0080199 colorectal carcinoma ISO RGD:1354417 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:increased expression:colorectum (human) 1563348 Selenoh selenoprotein H gene DOID:1059 intellectual disability ISO RGD:1354417 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563349 Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:1826 epilepsy ISO RGD:1603535 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 1563349 Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603535 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563349 Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1603535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563354 Kiaa1755 KIAA1755 ortholog gene DOID:10283 prostate cancer ISO RGD:2289756 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563354 Kiaa1755 KIAA1755 ortholog gene DOID:2234 focal epilepsy ISO RGD:2289756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1563354 Kiaa1755 KIAA1755 ortholog gene DOID:630 genetic disease ISO RGD:2289756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563355 Zxda zinc finger, X-linked, duplicated A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563355 Zxda zinc finger, X-linked, duplicated A gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1347860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 1563355 Zxda zinc finger, X-linked, duplicated A gene DOID:0111406 Fraser syndrome 3 ISO RGD:1347860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1563355 Zxda zinc finger, X-linked, duplicated A gene DOID:12849 autistic disorder ISO RGD:1347860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563355 Zxda zinc finger, X-linked, duplicated A gene DOID:630 genetic disease ISO RGD:1347860 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563357 Tlr7 toll-like receptor 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 1563357 Tlr7 toll-like receptor 7 gene DOID:0080162 lupus nephritis ISO RGD:1558497 D RGD:7246905|PMID:19944565 20130621 RGD 1563357 Tlr7 toll-like receptor 7 gene DOID:0080600 COVID-19 severity ISO RGD:1353456 D RGD:127284891|PMID:33650967 20210615 RGD DNA:SNPs:Cds: 1563357 Tlr7 toll-like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:7240710 20200902 OMIM 1563357 Tlr7 toll-like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked PMID:32706371 1563357 Tlr7 toll-like receptor 7 gene DOID:11168 anogenital venereal wart ISO RGD:1353456 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 1563357 Tlr7 toll-like receptor 7 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1353456 D RGD:5129471|PMID:19386802 20110330 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) 1563357 Tlr7 toll-like receptor 7 gene DOID:12849 autistic disorder ISO RGD:1353456 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563357 Tlr7 toll-like receptor 7 gene DOID:1883 hepatitis C ISO RGD:1353456 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 1563357 Tlr7 toll-like receptor 7 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1558497 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 1563357 Tlr7 toll-like receptor 7 gene DOID:3042 allergic contact dermatitis ISO RGD:1353456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1563357 Tlr7 toll-like receptor 7 gene DOID:630 genetic disease ISO RGD:1353456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563357 Tlr7 toll-like receptor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353456 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 1563357 Tlr7 toll-like receptor 7 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20150819 RGD mRNA:increased expression:ileum 1563357 Tlr7 toll-like receptor 7 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1558497 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 1563357 Tlr7 toll-like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:7240710 20220518 OMIM 1563357 Tlr7 toll-like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 17 PMID:35477763 1563357 Tlr7 toll-like receptor 7 gene DOID:9001472 Nasal Polyps ISO RGD:1353456 D RGD:7800741|PMID:23157229 20140121 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: 1563357 Tlr7 toll-like receptor 7 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1353456 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 1563357 Tlr7 toll-like receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353456 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563357 Tlr7 toll-like receptor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:35477763 1563357 Tlr7 toll-like receptor 7 gene DOID:9074 systemic lupus erythematosus ISS RGD:1558497 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1563359 Invs inversin gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 1563359 Invs inversin gene DOID:0080322 polycystic kidney disease severity ISO RGD:1557314 D RGD:155794378|PMID:16999740 20230106 RGD 1563359 Invs inversin gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 1563359 Invs inversin gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 1563359 Invs inversin gene DOID:0111112 nephronophthisis 1 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 1563359 Invs inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:155791687|PMID:12872123 20230106 RGD DNA:missense mutations, non-sense mutations, frameshift mutations: 1563359 Invs inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:7240710 20130221 OMIM 1563359 Invs inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 1563359 Invs inversin gene DOID:1059 intellectual disability ISO RGD:1604022 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563359 Invs inversin gene DOID:10763 hypertension ISO RGD:1604022 D RGD:155791686|PMID:19177160 20230106 RGD associated with nephronophthisis 2; 1563359 Invs inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:12872123|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:28492532|PMID:33532864|PMID:34298581|PMID:9536098 1563359 Invs inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 1563359 Invs inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 1563359 Invs inversin gene DOID:13580 cholestasis ISO RGD:1557314 D RGD:155791685|PMID:10421642 20230106 RGD 1563359 Invs inversin gene DOID:14004 thoracic aortic aneurysm ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 1563359 Invs inversin gene DOID:2975 cystic kidney disease ISO RGD:1557314 D RGD:155794377|PMID:24586938 20230106 RGD 1563359 Invs inversin gene DOID:557 kidney disease ISO RGD:1604022 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 1563359 Invs inversin gene DOID:630 genetic disease ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563359 Invs inversin gene DOID:6419 tetralogy of Fallot ISS RGD:1557314 D RGD:13592920 20180518 MouseDO OMIM:187500 1563359 Invs inversin gene DOID:9004898 Jaundice ISO RGD:1557314 D RGD:155791685|PMID:10421642 20230106 RGD 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1349944 D RGD:152600900|PMID:21176871 20220525 RGD 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:1612 breast cancer susceptibility ISO RGD:1349944 D RGD:152599188|PMID:24338422 20220524 RGD DNA:SNP: :rs989902(human) 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:219 colon cancer treatment ISO RGD:1349944 D RGD:152975627|PMID:29899829 20220527 RGD 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:224 transient cerebral ischemia IEP D RGD:4142863|PMID:18096138 20220527 RGD mRNA,protein:increased expression:cerebral cortex: 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3717 gastric adenocarcinoma ISO RGD:1349944 D RGD:152599189|PMID:10660140 20220524 RGD protein:increased expression:stomach 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1349944 D RGD:152975628|PMID:32536826 20220527 RGD 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1349944 D RGD:152176663|PMID:22245727 20220510 RGD mRNA,protein:decreased expression:lung 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1349944 D RGD:152176664|PMID:23906871 20220510 RGD 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3910 lung adenocarcinoma ISO RGD:1349944 D RGD:152176663|PMID:22245727 20220510 RGD mRNA,protein:decreased expression:lung 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1349944 D RGD:152975626|PMID:33536603 20220527 RGD 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349944 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:4556 lung large cell carcinoma ISO RGD:1349944 D RGD:152176663|PMID:22245727 20220510 RGD mRNA,protein:decreased expression:lung 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:152176661|PMID:19892796 20220510 RGD DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:630 genetic disease ISO RGD:1349944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:26801674|REF_RGD_ID:152176666 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1349944 D RGD:152599190|PMID:16489062 20220524 RGD DNA:SNP: :p.Y2081D(human) 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349944 D RGD:152176664|PMID:23906871 20220510 RGD associated with lung squamous cell carcinoma; protein:decreased expression:lymph node 1563360 Ptpn13 protein tyrosine phosphatase, non-receptor type 13 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1349944 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) 1563363 Zfp536 zinc finger protein 536 gene DOID:4450 renal cell carcinoma ISO RGD:1351769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1563363 Zfp536 zinc finger protein 536 gene DOID:630 genetic disease ISO RGD:1351769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563363 Zfp536 zinc finger protein 536 gene DOID:9002189 High Myopia ISO RGD:1351769 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1563363 Zfp536 zinc finger protein 536 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351769 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563369 Ctps2 CTP synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602693 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563369 Ctps2 CTP synthase 2 gene DOID:12849 autistic disorder ISO RGD:1602693 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563369 Ctps2 CTP synthase 2 gene DOID:630 genetic disease ISO RGD:1602693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563369 Ctps2 CTP synthase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602693 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563369 Ctps2 CTP synthase 2 gene DOID:9256 colorectal cancer resistance ISO RGD:1602693 D RGD:5132879|PMID:21378502 20110606 RGD mRNA:increased expression:tumor (human) 1563372 Fundc1 FUN14 domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351437 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563372 Fundc1 FUN14 domain containing 1 gene DOID:0080006 bone development disease ISO RGD:1351437 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 1563372 Fundc1 FUN14 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351437 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563372 Fundc1 FUN14 domain containing 1 gene DOID:630 genetic disease ISO RGD:1351437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563372 Fundc1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia ISO RGD:1557033 D RGD:12738373|PMID:22267086 20170202 RGD protein:decreased expression:brain (mouse) 1563372 Fundc1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia severity ISO RGD:1557033 D RGD:12738374|PMID:27995894 20170202 RGD 1563372 Fundc1 FUN14 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351437 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563372 Fundc1 FUN14 domain containing 1 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1351437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 1563373 Bmper BMP-binding endothelial regulator gene DOID:2559 opiate dependence ISO RGD:1604514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1563373 Bmper BMP-binding endothelial regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604514 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563373 Bmper BMP-binding endothelial regulator gene DOID:630 genetic disease ISO RGD:1604514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563373 Bmper BMP-binding endothelial regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1604514 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563373 Bmper BMP-binding endothelial regulator gene DOID:9000836 Diaphanospondylodysostosis ISO RGD:1604514 D RGD:7240710 20141015 OMIM 1563373 Bmper BMP-binding endothelial regulator gene DOID:9000836 Diaphanospondylodysostosis ISO RGD:1604514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphanospondylodysostosis PMID:20869035|PMID:21990102|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30006055 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344524 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:0060825 Christianson syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:12849 autistic disorder ISO RGD:1344524 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:630 genetic disease ISO RGD:1344524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563377 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344524 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:7240710 20160210 OMIM 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1348834 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:25741868|PMID:28492532 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:5723 optic atrophy ISO RGD:1348834 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:29181510|PMID:33841295|PMID:9536098 1563384 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:33037779 1563386 Serhl2 serine hydrolase-like 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1563386 Serhl2 serine hydrolase-like 2 gene DOID:1059 intellectual disability ISO RGD:1602055 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563386 Serhl2 serine hydrolase-like 2 gene DOID:630 genetic disease ISO RGD:1602055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563386 Serhl2 serine hydrolase-like 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602055 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1563387 Cd200r1l CD200 receptor 1-like gene DOID:630 genetic disease ISO RGD:1602956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563388 Efhc2 EF-hand domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348000 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563388 Efhc2 EF-hand domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:21681106|PMID:25741868|PMID:30208311 1563388 Efhc2 EF-hand domain containing 2 gene DOID:630 genetic disease ISO RGD:1348000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563388 Efhc2 EF-hand domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348000 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563388 Efhc2 EF-hand domain containing 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348000 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:25741868 1563388 Efhc2 EF-hand domain containing 2 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1348000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 1563393 Gtdc1 glycosyltransferase-like domain containing 1 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1354274 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:12920073 1563393 Gtdc1 glycosyltransferase-like domain containing 1 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1354274 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 1563393 Gtdc1 glycosyltransferase-like domain containing 1 gene DOID:2661 myoepithelioma ISO RGD:1354274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1563393 Gtdc1 glycosyltransferase-like domain containing 1 gene DOID:630 genetic disease ISO RGD:1354274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563395 Cinp cyclin-dependent kinase 2-interacting protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1602222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1563395 Cinp cyclin-dependent kinase 2-interacting protein gene DOID:1826 epilepsy ISO RGD:1602222 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26539891 1563397 Pcf11 PCF11 cleavage and polyadenylation factor subunit gene DOID:1059 intellectual disability ISO RGD:1604812 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563397 Pcf11 PCF11 cleavage and polyadenylation factor subunit gene DOID:630 genetic disease ISO RGD:1604812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563397 Pcf11 PCF11 cleavage and polyadenylation factor subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1604812 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 1563398 Topaz1 testis and ovary specific TOPAZ 1 gene DOID:630 genetic disease ISO RGD:2311615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563403 Fam110b family with sequence similarity 110, member B gene DOID:630 genetic disease ISO RGD:1605314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563409 Fam104a family with sequence similarity 104, member A gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1602856 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:25741868|PMID:28492532 1563409 Fam104a family with sequence similarity 104, member A gene DOID:630 genetic disease ISO RGD:1602856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563411 Micu3 mitochondrial calcium uptake family, member 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1344142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 1563411 Micu3 mitochondrial calcium uptake family, member 3 gene DOID:630 genetic disease ISO RGD:1344142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563415 Rspo4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:7240710 20190123 OMIM 1563415 Rspo4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anonychia PMID:17041604|PMID:17186469|PMID:17914448|PMID:18070203|PMID:4702713 1563415 Rspo4 R-spondin 4 gene DOID:630 genetic disease ISO RGD:1344766 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:7240710 20130221 OMIM 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:34037665|PMID:34389451|PMID:34756585|PMID:4351242|PMID:7628519|PMID:9536098 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1606809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11326085|PMID:12016260|PMID:12464675|PMID:12788851|PMID:12958143|PMID:15485476|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25741868|PMID:25911074|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28965616|PMID:29245109|PMID:30318064|PMID:32041611|PMID:32770674|PMID:33116287|PMID:34037665|PMID:34389451|PMID:4351242|PMID:9536098 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1606809 D RGD:1626107|PMID:15599766 20070711 RGD 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:11326085|PMID:12464675|PMID:16199547|PMID:25741868|PMID:28492532 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1606809 D RGD:1626106|PMID:17380167 20070711 RGD 1563417 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1606809 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:28492532 1563421 Fyb1 FYN binding protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1563421 Fyb1 FYN binding protein 1 gene DOID:630 genetic disease ISO RGD:1603714 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563421 Fyb1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:7240710 20190315 OMIM 1563421 Fyb1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 3 PMID:25741868|PMID:25876182 1563421 Fyb1 FYN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603714 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563422 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1604029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 1563422 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604029 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563422 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:630 genetic disease ISO RGD:1604029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563422 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604029 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563425 Saxo5 stabilizer of axonemal microtubules 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1563425 Saxo5 stabilizer of axonemal microtubules 5 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1602810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 1563429 Lrrc8b leucine rich repeat containing 8 VRAC subunit B gene DOID:630 genetic disease ISO RGD:1606820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563434 Shroom4 shroom family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606521 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563434 Shroom4 shroom family member 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1563434 Shroom4 shroom family member 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1563434 Shroom4 shroom family member 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1563434 Shroom4 shroom family member 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1563434 Shroom4 shroom family member 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:12673656|PMID:16249884|PMID:18414213|PMID:23757202|PMID:23871722|PMID:25670966|PMID:25741868|PMID:26740508|PMID:36209347 1563434 Shroom4 shroom family member 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1563434 Shroom4 shroom family member 4 gene DOID:1059 intellectual disability ISO RGD:1606521 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 1563434 Shroom4 shroom family member 4 gene DOID:12849 autistic disorder ISO RGD:1606521 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563434 Shroom4 shroom family member 4 gene DOID:630 genetic disease ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23757202|PMID:25741868|PMID:28492532 1563435 Ophn1 oligophrenin 1 gene DOID:0050888 syndromic intellectual disability ISS RGD:1557080 D RGD:13592920 20180518 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 1563435 Ophn1 oligophrenin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1563435 Ophn1 oligophrenin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345567 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563435 Ophn1 oligophrenin 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1345567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31474318 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:13207443|PMID:24105372 20170801 RGD DNA:deletion:exon 7:r.487_597del (c.781_891del) (human) 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:13207444|PMID:20528889 20170801 RGD DNA:deletion:exon, intron 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:13207445|PMID:12807966 20170801 RGD DNA:duplication:exon: c.1385insAAGAATTC (human) 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:13207446|PMID:18261018 20170801 RGD DNA:deletion:exon, intron 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:13207450|PMID:16158428 20170801 RGD DNA:deletion:exon:p.T214fs34* (human) 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:7240710 20130221 OMIM 1563435 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 PMID:10818214|PMID:12807966|PMID:16199547|PMID:16221952|PMID:18414213|PMID:20528889|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32238909|PMID:34906502|PMID:9582072 1563435 Ophn1 oligophrenin 1 gene DOID:1059 intellectual disability ISO RGD:1345567 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1563435 Ophn1 oligophrenin 1 gene DOID:12849 autistic disorder ISO RGD:1345567 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563435 Ophn1 oligophrenin 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1345567 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 1563435 Ophn1 oligophrenin 1 gene DOID:1826 epilepsy ISO RGD:1345567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 1563435 Ophn1 oligophrenin 1 gene DOID:630 genetic disease ISO RGD:1345567 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10818214|PMID:16221952|PMID:18414213|PMID:24105372|PMID:25741868|PMID:26467025|PMID:28492532 1563435 Ophn1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 1563435 Ophn1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:13207441|PMID:21796728 20170801 RGD DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human) 1563435 Ophn1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:13207442|PMID:12805098 20170801 RGD DNA:deletion:exon 1563437 Etl4 enhancer trap locus 4 gene DOID:630 genetic disease ISO RGD:1352431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563438 Tmem256 transmembrane protein 256 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1563438 Tmem256 transmembrane protein 256 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606934 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 1563438 Tmem256 transmembrane protein 256 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606934 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1563438 Tmem256 transmembrane protein 256 gene DOID:1059 intellectual disability ISO RGD:1606934 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1563438 Tmem256 transmembrane protein 256 gene DOID:12177 common variable immunodeficiency ISO RGD:1606934 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1563438 Tmem256 transmembrane protein 256 gene DOID:2729 dyskeratosis congenita ISO RGD:1606934 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1563438 Tmem256 transmembrane protein 256 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1563438 Tmem256 transmembrane protein 256 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606934 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1563439 Nipal3 NIPA-like domain containing 3 gene DOID:630 genetic disease ISO RGD:1603619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563439 Nipal3 NIPA-like domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603619 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 1563439 Nipal3 NIPA-like domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603619 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563440 Mroh7 maestro heat-like repeat family member 7 gene DOID:630 genetic disease ISO RGD:1605524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563441 Rnf227 ring finger protein 227 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:13434539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1563441 Rnf227 ring finger protein 227 gene DOID:2729 dyskeratosis congenita ISO RGD:13434539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1563441 Rnf227 ring finger protein 227 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:13434539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1563442 Zfp385c zinc finger protein 385C gene DOID:630 genetic disease ISO RGD:1604507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563443 Usp26 ubiquitin specific peptidase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354275 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563443 Usp26 ubiquitin specific peptidase 26 gene DOID:12849 autistic disorder ISO RGD:1354275 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563443 Usp26 ubiquitin specific peptidase 26 gene DOID:630 genetic disease ISO RGD:1354275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563443 Usp26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:7240710 20230505 OMIM 1563443 Usp26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6 PMID:34202084 1563444 Fhad1 forkhead associated phosphopeptide binding domain 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605889 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1563444 Fhad1 forkhead associated phosphopeptide binding domain 1 gene DOID:630 genetic disease ISO RGD:1605889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563448 Ccdc73 coiled-coil domain containing 73 gene DOID:1059 intellectual disability ISO RGD:1601781 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563448 Ccdc73 coiled-coil domain containing 73 gene DOID:630 genetic disease ISO RGD:1601781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563452 Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342451 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563452 Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:630 genetic disease ISO RGD:1342451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563452 Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1342451 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 1563454 Acod1 aconitate decarboxylase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2292071 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1563458 Fam50b family with sequence similarity 50, member B gene DOID:630 genetic disease ISO RGD:1352003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563460 LOC500475 similar to hypothetical protein 4933430I17 gene DOID:630 genetic disease ISO RGD:1345519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563465 Ntng1 netrin G1 gene DOID:12849 autistic disorder ISO RGD:1350531 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563465 Ntng1 netrin G1 gene DOID:3312 bipolar disorder ISO RGD:1350531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 1563465 Ntng1 netrin G1 gene DOID:5419 schizophrenia ISO RGD:1350531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 1563465 Ntng1 netrin G1 gene DOID:630 genetic disease ISO RGD:1350531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563465 Ntng1 netrin G1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1563467 Cdcp2 CUB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1603885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563468 Spesp1 sperm equatorial segment protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1349587 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563468 Spesp1 sperm equatorial segment protein 1 gene DOID:630 genetic disease ISO RGD:1349587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563468 Spesp1 sperm equatorial segment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1349587 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563470 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:1540 parathyroid carcinoma ISO RGD:1603990 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563470 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:630 genetic disease ISO RGD:1603990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563470 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603990 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1563470 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603990 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563481 Or51t1 olfactory receptor, family 51, subfamily T, member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352520 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1563481 Or51t1 olfactory receptor, family 51, subfamily T, member 1 gene DOID:630 genetic disease ISO RGD:1352520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1605601 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1605601 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25741868|PMID:31673878 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:7240710 20161130 OMIM 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive PMID:20598281|PMID:23188110|PMID:24080142|PMID:24198383|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32581362|PMID:3479531 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:7240710 20161130 OMIM 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32478789|PMID:32581362|PMID:34440436|PMID:34732400 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:607 paraplegia ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:34732400 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1605601 D RGD:11554173 20161206 CTD CTD Direct Evidence: marker/mechanism PMID:20598281 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:9001793 Generalized Epilepsy ISO RGD:1605601 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20598281|PMID:25326635|PMID:25741868|PMID:26539891|PMID:32581362 1563482 Mtrfr mitochondrial translation release factor in rescue gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605601 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563485 Atrnl1 attractin like 1 gene DOID:630 genetic disease ISO RGD:1607060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563491 Cped1 cadherin-like and PC-esterase domain containing 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1605333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1563491 Cped1 cadherin-like and PC-esterase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605333 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563491 Cped1 cadherin-like and PC-esterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563497 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603222 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1563497 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1603222 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563497 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:1936 atherosclerosis ISO RGD:1603222 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 1563497 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1603222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563498 Lyrm1 LYR motif containing 1 gene DOID:630 genetic disease ISO RGD:1601746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563504 Plcxd2 phosphatidylinositol-specific phospholipase C, X domain containing 2 gene DOID:630 genetic disease ISO RGD:1345610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563506 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:13938 amenorrhea ISO RGD:1606472 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1563506 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:2717 Bloom syndrome ISO RGD:1606472 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563506 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:5426 primary ovarian insufficiency ISO RGD:1606472 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1563506 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:630 genetic disease ISO RGD:1606472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563506 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:9256 colorectal cancer ISO RGD:1606472 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563508 Smg1 SMG1, nonsense mediated mRNA decay associated PI3K related kinase gene DOID:630 genetic disease ISO RGD:1602127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563510 Nol4l nucleolar protein 4-like gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348785 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 1563510 Nol4l nucleolar protein 4-like gene DOID:630 genetic disease ISO RGD:1348785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:0050749 peripheral T-cell lymphoma ISS RGD:1557447 D RGD:13592920 20180518 MouseDO 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604740 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1604740 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:630 genetic disease ISO RGD:1604740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:7240710 20200930 OMIM 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 PMID:25741868 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9074 systemic lupus erythematosus ISS RGD:1557447 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1563512 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604740 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:0050476 Barth syndrome ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354490 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354490 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354490 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:12849 autistic disorder ISO RGD:1354490 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:13628 favism ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:607 paraplegia ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:630 genetic disease ISO RGD:1354490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563513 Slc10a3 solute carrier family 10, member 3 gene DOID:9002720 Splenomegaly ISO RGD:1354490 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1563514 Spout1 SPOUT domain containing methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1563514 Spout1 SPOUT domain containing methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563517 Clec1b C-type lectin domain family 1, member B gene DOID:0080600 COVID-19 ISO RGD:1346944 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563517 Clec1b C-type lectin domain family 1, member B gene DOID:630 genetic disease ISO RGD:1346944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563517 Clec1b C-type lectin domain family 1, member B gene DOID:684 hepatocellular carcinoma ISO RGD:1346944 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563520 Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1351683 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1563520 Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563520 Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1351683 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1563522 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1563522 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606285 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563522 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1606285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563522 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1563522 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606285 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563523 Dkkl1 dickkopf like acrosomal protein 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1563523 Dkkl1 dickkopf like acrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1350645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:6892656 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:12849 autistic disorder ISO RGD:6892656 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:630 genetic disease ISO RGD:6892656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892656 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563528 Mpc1l mitochondrial pyruvate carrier 1-like gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:6892656 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1563529 Nlrp4 NLR family, pyrin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563531 Fastkd1 FAST kinase domains 1 gene DOID:630 genetic disease ISO RGD:1606223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563531 Fastkd1 FAST kinase domains 1 gene DOID:9003605 Glaucoma 1, Open Angle, B ISO RGD:1606223 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, B 1563533 Casz1 castor zinc finger 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1563533 Casz1 castor zinc finger 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1563533 Casz1 castor zinc finger 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606535 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1563533 Casz1 castor zinc finger 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1563533 Casz1 castor zinc finger 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISS RGD:1557539 D RGD:13592920 20180518 MouseDO OMIM:607872 1563533 Casz1 castor zinc finger 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1563533 Casz1 castor zinc finger 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606535 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 1563533 Casz1 castor zinc finger 1 gene DOID:630 genetic disease ISO RGD:1606535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563533 Casz1 castor zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606535 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1563533 Casz1 castor zinc finger 1 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606535 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 1563533 Casz1 castor zinc finger 1 gene DOID:9007096 Stroke ISO RGD:1606535 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1563533 Casz1 castor zinc finger 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1563538 Clasrp CLK4-associating serine/arginine rich protein gene DOID:630 genetic disease ISO RGD:1347770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563547 Smim22 small integral membrane protein 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1563547 Smim22 small integral membrane protein 22 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:7247217 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1563547 Smim22 small integral membrane protein 22 gene DOID:1826 epilepsy ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1563547 Smim22 small integral membrane protein 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:7247217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1563547 Smim22 small integral membrane protein 22 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1563548 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1344502 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563548 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:630 genetic disease ISO RGD:1344502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563548 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:83 cataract ISO RGD:1344502 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 1563548 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344502 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563550 Wdr72 WD repeat domain 72 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1602418 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive PMID:25741868 1563550 Wdr72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:7240710 20130221 OMIM 1563550 Wdr72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 PMID:19853237|PMID:20938048|PMID:24033266|PMID:25741868|PMID:30028003 1563550 Wdr72 WD repeat domain 72 gene DOID:14219 renal tubular acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 1563550 Wdr72 WD repeat domain 72 gene DOID:2187 amelogenesis imperfecta ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:24033266|PMID:25741868 1563550 Wdr72 WD repeat domain 72 gene DOID:2717 Bloom syndrome ISO RGD:1602418 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563550 Wdr72 WD repeat domain 72 gene DOID:607 paraplegia ISO RGD:1602418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1563550 Wdr72 WD repeat domain 72 gene DOID:630 genetic disease ISO RGD:1602418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1563550 Wdr72 WD repeat domain 72 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:31959358 1563550 Wdr72 WD repeat domain 72 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 1563550 Wdr72 WD repeat domain 72 gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:1602418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:25741868|PMID:30028003 1563550 Wdr72 WD repeat domain 72 gene DOID:9256 colorectal cancer ISO RGD:1602418 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563555 Garin3 golgi associated RAB2B interactor family member 3 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 1563555 Garin3 golgi associated RAB2B interactor family member 3 gene DOID:630 genetic disease ISO RGD:1606142 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563556 Cep126 centrosomal protein 126 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1563556 Cep126 centrosomal protein 126 gene DOID:0080600 COVID-19 ISO RGD:1606251 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563556 Cep126 centrosomal protein 126 gene DOID:1059 intellectual disability ISO RGD:1606251 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563556 Cep126 centrosomal protein 126 gene DOID:12704 ataxia telangiectasia ISO RGD:1606251 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1563556 Cep126 centrosomal protein 126 gene DOID:630 genetic disease ISO RGD:1606251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:11981 morbid obesity no_association ISO RGD:1346196 D RGD:9850253|PMID:19228371 20150401 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:11981 morbid obesity susceptibility ISO RGD:1346196 D RGD:9850251|PMID:19245693 20150401 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:2234 focal epilepsy ISO RGD:1346196 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:630 genetic disease ISO RGD:1346196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:7240710 20220518 OMIM 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias PMID:32484799 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1346196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 1563558 Ctnnbl1 catenin, beta like 1 gene DOID:9256 colorectal cancer ISO RGD:1346196 D RGD:9850254|PMID:21537400 20150401 RGD DNA:snps:introns: c.326+4380A>G, c.1213+1838T>C, c.1393-7258G>A (rs2344481, rs2281148, rs2235460) (human) 1563566 Ubqln2 ubiquilin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19377476|PMID:22560112|PMID:23138764|PMID:25741868|PMID:26467025|PMID:28492532 1563566 Ubqln2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:7240710 20140903 OMIM 1563566 Ubqln2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 PMID:19377476|PMID:21857683|PMID:22560112|PMID:22892309|PMID:23138764|PMID:23312802|PMID:24215460|PMID:24771548|PMID:25333069|PMID:25398946|PMID:25616961|PMID:25741868|PMID:26075709|PMID:26467025|PMID:28492532|PMID:28716533|PMID:30348461|PMID:34273246 1563566 Ubqln2 ubiquilin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350173 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563566 Ubqln2 ubiquilin 2 gene DOID:12849 autistic disorder ISO RGD:1350173 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563566 Ubqln2 ubiquilin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350173 D RGD:5147832|PMID:21857683 20110823 RGD 1563566 Ubqln2 ubiquilin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350173 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:21857683|PMID:25333069|PMID:25616961|PMID:25741868|PMID:26075709|PMID:28492532 1563566 Ubqln2 ubiquilin 2 gene DOID:630 genetic disease ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563566 Ubqln2 ubiquilin 2 gene DOID:8725 vascular dementia ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1563567 Was WASP actin nucleation promoting factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349471 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563567 Was WASP actin nucleation promoting factor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349471 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1563567 Was WASP actin nucleation promoting factor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1563567 Was WASP actin nucleation promoting factor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349471 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1563567 Was WASP actin nucleation promoting factor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1563567 Was WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17724125 1563567 Was WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:7240710 20130425 OMIM 1563567 Was WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10698340|PMID:10737997|PMID:10909851|PMID:11167787|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:11877312|PMID:12199801|PMID:12727931|PMID:12969986|PMID:14504083|PMID:15284122|PMID:15469902|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:16804117|PMID:17213309|PMID:17250667|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19006568|PMID:19308710|PMID:19328743|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22229731|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23160469|PMID:23527602|PMID:23689198|PMID:23807894|PMID:24210885|PMID:24402308|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26261240|PMID:26368308|PMID:26502776|PMID:27566838|PMID:28492532|PMID:28600779|PMID:28623282|PMID:28641574|PMID:28748566|PMID:28901403|PMID:28956125|PMID:29078804|PMID:29896746|PMID:29991546|PMID:30549999|PMID:30697212|PMID:30981783|PMID:31064749|PMID:31352750|PMID:31354712|PMID:31965297|PMID:32097281|PMID:3284030|PMID:33225392|PMID:34355501|PMID:35729272|PMID:7579329|PMID:7579347|PMID:7753869|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8530058|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8743175|PMID:8757562|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9476131|PMID:9536098 1563567 Was WASP actin nucleation promoting factor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1558289 D RGD:38676258|PMID:23141740 20200916 RGD 1563567 Was WASP actin nucleation promoting factor gene DOID:12849 autistic disorder ISO RGD:1349471 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563567 Was WASP actin nucleation promoting factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 1563567 Was WASP actin nucleation promoting factor gene DOID:1588 thrombocytopenia ISO RGD:1349471 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:27885891|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8666397|PMID:8757563|PMID:9326235 1563567 Was WASP actin nucleation promoting factor gene DOID:2213 hemorrhagic disease ISO RGD:1349471 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1563567 Was WASP actin nucleation promoting factor gene DOID:2986 IgA glomerulonephritis ISS RGD:1558289 D RGD:13592920 20180518 MouseDO OMIM:161950 | OMIM:616818 1563567 Was WASP actin nucleation promoting factor gene DOID:3298 vaccinia severity ISO RGD:1558289 D RGD:38599240|PMID:15681416 20200916 RGD 1563567 Was WASP actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1349471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563567 Was WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:7240710 20131030 OMIM 1563567 Was WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 1 PMID:10447259|PMID:10575547|PMID:11167787|PMID:11442475|PMID:11793485|PMID:12199801|PMID:12591280|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14612666|PMID:15284122|PMID:16199547|PMID:16562789|PMID:17400488|PMID:17576681|PMID:17703096|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20546529|PMID:21185603|PMID:22038941|PMID:23023736|PMID:23160469|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25741868|PMID:26261240|PMID:28492532|PMID:28641574|PMID:31064749|PMID:31965297|PMID:33225392|PMID:7579329|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098 1563567 Was WASP actin nucleation promoting factor gene DOID:9005525 X-Linked Thrombocytopenia, Intermittent ISO RGD:1349471 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent PMID:11877312 1563567 Was WASP actin nucleation promoting factor gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558289 D RGD:38676256|PMID:30981413 20200916 RGD 1563567 Was WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:11598004 1563567 Was WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:1599803|PMID:8069912 20070215 RGD 1563567 Was WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:7240710 20130425 OMIM 1563567 Was WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10737997|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:12073025|PMID:12199801|PMID:12351383|PMID:12437929|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14566484|PMID:14612666|PMID:15284122|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:17065640|PMID:17213309|PMID:17250667|PMID:17390083|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23527602|PMID:23689198|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25741868|PMID:25792466|PMID:25931402|PMID:27885891|PMID:27993330|PMID:28492532|PMID:2906042|PMID:30981783|PMID:31965297|PMID:33225392|PMID:34355501|PMID:35729272|PMID:7579329|PMID:7579347|PMID:7735919|PMID:7753869|PMID:7795648|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8595430|PMID:8673127|PMID:8682510|PMID:8743175|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9657775 1563568 Stk26 serine/threonine kinase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604356 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563568 Stk26 serine/threonine kinase 26 gene DOID:12849 autistic disorder ISO RGD:1604356 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563568 Stk26 serine/threonine kinase 26 gene DOID:630 genetic disease ISO RGD:1604356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563572 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:6769372 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 1563572 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:630 genetic disease ISO RGD:6769372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563572 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:6769372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1563572 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:6769372 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1563574 Igflr1 IGF-like family receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1563574 Igflr1 IGF-like family receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1563574 Igflr1 IGF-like family receptor 1 gene DOID:543 dystonia ISO RGD:1605956 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1563574 Igflr1 IGF-like family receptor 1 gene DOID:630 genetic disease ISO RGD:1605956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563576 Kbtbd11 kelch repeat and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1604839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563576 Kbtbd11 kelch repeat and BTB domain containing 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1604839 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563577 Cnfn cornifelin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1563577 Cnfn cornifelin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1563577 Cnfn cornifelin gene DOID:2340 craniosynostosis ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1563577 Cnfn cornifelin gene DOID:5419 schizophrenia ISO RGD:1350274 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563577 Cnfn cornifelin gene DOID:630 genetic disease ISO RGD:1350274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563577 Cnfn cornifelin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1563577 Cnfn cornifelin gene DOID:9269 maple syrup urine disease ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352693 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:7240710 20130221 OMIM 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:1059 intellectual disability ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:27256868|PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:11782 astigmatism ISO RGD:1352693 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:12849 autistic disorder ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:630 genetic disease ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19471312|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352693 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 1563582 Slc9a6 solute carrier family 9 member A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1352693 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362|PMID:32860008 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1350630 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:7240710 20170301 OMIM 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 19 PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1350630 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:1059 intellectual disability ISO RGD:1350630 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:630 genetic disease ISO RGD:1350630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 1563583 Ttll5 tubulin tyrosine ligase like 5 gene DOID:980 choroidal sclerosis ISO RGD:1350630 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 1563593 Cdca4 cell division cycle associated 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1563593 Cdca4 cell division cycle associated 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1563593 Cdca4 cell division cycle associated 4 gene DOID:630 genetic disease ISO RGD:1348557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:7240710 20140911 OMIM 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MAN1B1-CDG | ClinVar Annotator: match by term: Rafiq syndrome PMID:17576681|PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:28940310|PMID:29908352|PMID:30982612|PMID:9536098 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:1059 intellectual disability ISO RGD:1347467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:1059 intellectual disability ISO RGD:1347467 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:1826 epilepsy ISO RGD:1347467 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:3652 Leigh disease ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:630 genetic disease ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:29908352 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1563595 Man1b1 mannosidase, alpha, class 1B, member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:29908352 1563596 Ckap5 cytoskeleton associated protein 5 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1563596 Ckap5 cytoskeleton associated protein 5 gene DOID:10283 prostate cancer ISO RGD:1605408 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563596 Ckap5 cytoskeleton associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1605408 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563596 Ckap5 cytoskeleton associated protein 5 gene DOID:630 genetic disease ISO RGD:1605408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563596 Ckap5 cytoskeleton associated protein 5 gene DOID:9003882 Chromosomal Instability ISO RGD:1605408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 1563596 Ckap5 cytoskeleton associated protein 5 gene DOID:9008692 Aneuploidy ISO RGD:1605408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1604497 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604497 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604497 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:12849 autistic disorder ISO RGD:1604497 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:5419 schizophrenia ISO RGD:1604497 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:7240710 20190315 OMIM 1563597 Dynlt2b dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly PMID:25741868|PMID:26044572|PMID:28492532 1563598 Cd160 CD160 molecule gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1342532 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 1563598 Cd160 CD160 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1342532 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563598 Cd160 CD160 molecule gene DOID:5419 schizophrenia ISO RGD:1342532 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563598 Cd160 CD160 molecule gene DOID:630 genetic disease ISO RGD:1342532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563598 Cd160 CD160 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342532 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563599 Sh3bgr SH3 domain binding glutamate-rich protein gene DOID:12849 autistic disorder ISO RGD:1346069 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563599 Sh3bgr SH3 domain binding glutamate-rich protein gene DOID:630 genetic disease ISO RGD:1346069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563603 Rad51 RAD51 recombinase gene DOID:0050700 cardiomyopathy treatment IDA D RGD:7240549|PMID:22384017 20150302 RGD 1563603 Rad51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:7240710 20230510 OMIM 1563603 Rad51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group R PMID:15908697|PMID:25741868|PMID:26253028|PMID:26681308 1563603 Rad51 RAD51 recombinase gene DOID:10763 hypertension treatment IDA D RGD:8693672|PMID:24239235 20150227 RGD 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer ISO RGD:1316727 D RGD:2292635|PMID:17942895 20080428 RGD mRNA:increased expression:breast 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer ISO RGD:1316727 D RGD:7240710 20230510 OMIM 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer resistance ISO RGD:1316727 D RGD:2298722|PMID:17301259 20080718 RGD DNA:polymorphism: :135G>C 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:2292632|PMID:18429825 20080428 RGD DNA:repeat 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:2292634|PMID:17999359 20080428 RGD DNA:polymorphism: :135G>C 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:2292636|PMID:17180310 20080428 RGD DNA:deletion, loss of heterozygosity 1563603 Rad51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:2292637|PMID:16624550 20080428 RGD DNA:SNPs 1563603 Rad51 RAD51 recombinase gene DOID:1793 pancreatic cancer IEP D RGD:9831172|PMID:20197614 20150227 RGD protein:increased expression:pancreas (rat) 1563603 Rad51 RAD51 recombinase gene DOID:2152 ovary epithelial cancer no_association ISO RGD:1316727 D RGD:2298723|PMID:15924337 20080718 RGD DNA:polymorphisms: :135G>C, 172G>T 1563603 Rad51 RAD51 recombinase gene DOID:2394 ovarian cancer ISO RGD:1316727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1563603 Rad51 RAD51 recombinase gene DOID:2394 ovarian cancer resistance ISO RGD:1316727 D RGD:2298722|PMID:17301259 20080718 RGD DNA:polymorphism: :135G>C 1563603 Rad51 RAD51 recombinase gene DOID:2717 Bloom syndrome ISO RGD:1316727 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563603 Rad51 RAD51 recombinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316727 D RGD:8554872 20211019 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11248061|PMID:17999359 1563603 Rad51 RAD51 recombinase gene DOID:630 genetic disease ISO RGD:1316727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15908697|PMID:25741868|PMID:26681308|PMID:28492532 1563603 Rad51 RAD51 recombinase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1316727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 1563603 Rad51 RAD51 recombinase gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2292638|PMID:17219426 20080428 RGD protein:decreased expression:liver 1563603 Rad51 RAD51 recombinase gene DOID:9002669 Hypoxia IEP D RGD:9831171|PMID:21266355 20150227 RGD associated with Gliosarcoma;mRNA:decreased expression:tumor (rat) 1563603 Rad51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:7240710 20230510 OMIM 1563603 Rad51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 2 PMID:10807537|PMID:21242494|PMID:22305526|PMID:24808016|PMID:25741868|PMID:25813273|PMID:27830107|PMID:28492532|PMID:33116287 1563603 Rad51 RAD51 recombinase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1316727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 1563603 Rad51 RAD51 recombinase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1316727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9885240 1563603 Rad51 RAD51 recombinase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1316727 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 1563603 Rad51 RAD51 recombinase gene DOID:9008939 Breast Neoplasms ISO RGD:1316727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1563603 Rad51 RAD51 recombinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316727 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10807537|PMID:25741868|PMID:28492532|PMID:33116287 1563603 Rad51 RAD51 recombinase gene DOID:9256 colorectal cancer ISO RGD:1316727 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563607 Cenpa centromere protein A gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1563607 Cenpa centromere protein A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1349480 D RGD:9068941 20200730 RGD mRNA:increased expression:lung (human) PMID:30008938|REF_RGD_ID:36947379 1563607 Cenpa centromere protein A gene DOID:417 autoimmune disease ISO RGD:1349480 D RGD:36947376|PMID:10759786 20200730 RGD 1563607 Cenpa centromere protein A gene DOID:630 genetic disease ISO RGD:1349480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563607 Cenpa centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1563607 Cenpa centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:36947377|PMID:21956590 20200730 RGD protein:increased expression:liver (human) 1563609 Cpvl carboxypeptidase, vitellogenic-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345667 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563609 Cpvl carboxypeptidase, vitellogenic-like gene DOID:630 genetic disease ISO RGD:1345667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563612 Glcci1 glucocorticoid induced 1 gene DOID:630 genetic disease ISO RGD:1347258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321639 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0080006 bone development disease ISO RGD:1321639 D RGD:1599463|PMID:10615125 20070205 RGD familial expansile osteolysis, OMIM:174810 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:7240710 20130221 OMIM 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 PMID:15231021|PMID:17576681|PMID:18606301|PMID:19940926|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:7240710 20130221 OMIM 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial expansile osteolysis PMID:10615125|PMID:12362049|PMID:12568416|PMID:17447113|PMID:21472776|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7911698 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:10534 stomach cancer severity ISO RGD:1321639 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:11476 osteoporosis ISO RGD:1321639 D RGD:9068941 20220825 RGD PMID:17002564|REF_RGD_ID:1625350 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:13533 osteopetrosis ISO RGD:1321639 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:24033266|PMID:25741868|PMID:28492532 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:4254 osteosclerosis ISO RGD:1321639 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:24033266|PMID:25741868|PMID:28492532 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:5408 Paget's disease of bone ISO RGD:1321639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436471 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:5408 Paget's disease of bone ISO RGD:1321639 D RGD:1599463|PMID:10615125 20070205 RGD Paget disease of bone, OMIM:602080 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:5408 Paget's disease of bone ISO RGD:1321639 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone PMID:24033266|PMID:25741868|PMID:28492532 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:630 genetic disease ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:820 myocarditis IEP D RGD:2302361|PMID:18417124 20081215 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321639 D RGD:2302322|PMID:16752412 20081212 RGD associated with Prostatic Neoplasms;protein:increased expression:bone, lymph node 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9001547 Tibial Fractures IEP D RGD:2302324|PMID:18592139 20081215 RGD associated with Diabetes Mellitus, Experimental 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321640 D RGD:2291908|PMID:18317887 20081212 RGD protein:increased expression:prostate gland 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:1321639 D RGD:7240710 20190327 OMIM 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:10615125|PMID:11771666|PMID:12568416|PMID:17447113|PMID:17576681|PMID:21472776|PMID:25063546|PMID:25741868|PMID:28492532|PMID:31923705|PMID:9536098 1563614 Tnfrsf11a TNF receptor superfamily member 11A gene DOID:9005372 Inflammation ISO RGD:1321639 D RGD:2302321|PMID:18248671 20081212 RGD associated with Breast Neoplasms;mRNA:increased expression:breast 1563615 Cntnap3 contactin associated protein family member 3 gene DOID:630 genetic disease ISO RGD:1348176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563619 Cpa4 carboxypeptidase A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345742 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563619 Cpa4 carboxypeptidase A4 gene DOID:630 genetic disease ISO RGD:1345742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563621 Paqr7 progestin and adipoQ receptor family member 7 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606437 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1563621 Paqr7 progestin and adipoQ receptor family member 7 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1563621 Paqr7 progestin and adipoQ receptor family member 7 gene DOID:630 genetic disease ISO RGD:1606437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563625 Zscan4f zinc finger and SCAN domain containing 4F gene DOID:630 genetic disease ISO RGD:1351601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563627 Soga1 suppressor of glucose, autophagy associated 1 gene DOID:2234 focal epilepsy ISO RGD:1352015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1563627 Soga1 suppressor of glucose, autophagy associated 1 gene DOID:630 genetic disease ISO RGD:1352015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563628 Sez6l seizure related 6 homolog like gene DOID:0110271 cataract 23 ISO RGD:1344560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1563628 Sez6l seizure related 6 homolog like gene DOID:10283 prostate cancer ISO RGD:1344560 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563628 Sez6l seizure related 6 homolog like gene DOID:630 genetic disease ISO RGD:1344560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563630 Defb5 defensin beta 5 gene DOID:10459 common cold ISO RGD:1348794 D RGD:9068941 20220114 RGD mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus PMID:15034083|REF_RGD_ID:4892264 1563630 Defb5 defensin beta 5 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:respiratory system fluid/secretion PMID:17000097|REF_RGD_ID:4892262 1563630 Defb5 defensin beta 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 1563630 Defb5 defensin beta 5 gene DOID:1485 cystic fibrosis ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:respiratory system fluid/secretion PMID:9843998|REF_RGD_ID:4892267 1563630 Defb5 defensin beta 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 1563630 Defb5 defensin beta 5 gene DOID:630 genetic disease ISO RGD:1348794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563630 Defb5 defensin beta 5 gene DOID:850 lung disease ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:respiratory system fluid/secretion PMID:9843998|REF_RGD_ID:4892267 1563630 Defb5 defensin beta 5 gene DOID:874 bacterial pneumonia ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:plasma PMID:10213993|REF_RGD_ID:4892266 1563630 Defb5 defensin beta 5 gene DOID:9001415 Mycobacterium Infections ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:11296379|REF_RGD_ID:4892261 1563630 Defb5 defensin beta 5 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1348794 D RGD:11554173 20220118 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 1563630 Defb5 defensin beta 5 gene DOID:9005446 Mandibular Neoplasms ISO RGD:1348794 D RGD:9068941 20220114 RGD protein:increased expression:respiratory system fluid/secretion PMID:11934727|REF_RGD_ID:4892265 1563631 Znrf4 zinc and ring finger 4 gene DOID:630 genetic disease ISO RGD:1345671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563633 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:0060478 Zika fever ISO RGD:1557813 D RGD:32733625|PMID:30241539 20200701 RGD mRNA:increased expression:brain 1563633 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:630 genetic disease ISO RGD:1349759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563633 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349759 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563633 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1563634 Cactin cactin, spliceosome C complex subunit gene DOID:630 genetic disease ISO RGD:1344995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563642 Lancl3 LanC like family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349608 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563642 Lancl3 LanC like family member 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1349608 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1563642 Lancl3 LanC like family member 3 gene DOID:12849 autistic disorder ISO RGD:1349608 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563642 Lancl3 LanC like family member 3 gene DOID:630 genetic disease ISO RGD:1349608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563642 Lancl3 LanC like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349608 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563642 Lancl3 LanC like family member 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1349608 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1563643 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345108 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563643 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:12849 autistic disorder ISO RGD:1345108 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563643 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1345108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20518072 1563643 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:1790 malignant mesothelioma ISO RGD:1345108 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26807072 1563643 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:630 genetic disease ISO RGD:1345108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1717256 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:1599439|PMID:1683261 20070205 RGD 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1351719 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:2529 splenic disease ISO RGD:1351719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7908720 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1351719 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:630 genetic disease ISO RGD:1351719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 1563655 Tlx1 T-cell leukemia, homeobox 1 gene DOID:9008692 Aneuploidy ISO RGD:1351719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 1563657 Rimbp3 RIMS binding protein 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:2291772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1563657 Rimbp3 RIMS binding protein 3 gene DOID:11198 DiGeorge syndrome ISO RGD:2291772 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1563657 Rimbp3 RIMS binding protein 3 gene DOID:630 genetic disease ISO RGD:2291772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563660 Csgalnact2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563666 Hdx highly divergent homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348226 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563666 Hdx highly divergent homeobox gene DOID:12849 autistic disorder ISO RGD:1348226 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563666 Hdx highly divergent homeobox gene DOID:630 genetic disease ISO RGD:1348226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563669 Med9 mediator complex subunit 9 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1349775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1563669 Med9 mediator complex subunit 9 gene DOID:0050777 Joubert syndrome ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1563669 Med9 mediator complex subunit 9 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1349775 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1563669 Med9 mediator complex subunit 9 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1563669 Med9 mediator complex subunit 9 gene DOID:12849 autistic disorder ISO RGD:1349775 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563669 Med9 mediator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1349775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563670 Cabp2 calcium binding protein 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17576681|PMID:22981119|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 1563670 Cabp2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:7240710 20140911 OMIM 1563670 Cabp2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 93 PMID:17576681|PMID:22981119|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 1563670 Cabp2 calcium binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1348224 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563670 Cabp2 calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1348224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563670 Cabp2 calcium binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348224 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1563670 Cabp2 calcium binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1348224 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1563670 Cabp2 calcium binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1563674 Fahd2a fumarylacetoacetate hydrolase domain containing 2A gene DOID:1059 intellectual disability ISO RGD:1602649 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563674 Fahd2a fumarylacetoacetate hydrolase domain containing 2A gene DOID:5419 schizophrenia ISO RGD:1602649 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563674 Fahd2a fumarylacetoacetate hydrolase domain containing 2A gene DOID:630 genetic disease ISO RGD:1602649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563680 Cdin1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:7240710 20191009 OMIM 1563680 Cdin1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib PMID:16643456|PMID:23716552|PMID:25741868|PMID:28492532|PMID:29885034|PMID:31191338|PMID:9220189 1563680 Cdin1 CDAN1 interacting nuclease 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1607000 D RGD:11554173 20191015 CTD CTD Direct Evidence: marker/mechanism 1563680 Cdin1 CDAN1 interacting nuclease 1 gene DOID:2717 Bloom syndrome ISO RGD:1607000 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1563680 Cdin1 CDAN1 interacting nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1607000 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349710 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1349710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1349710 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:12849 autistic disorder ISO RGD:1349710 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:5119 ovarian cyst ISO RGD:1349710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:630 genetic disease ISO RGD:1349710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563681 Gpr34 G protein-coupled receptor 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349710 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318867 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1318867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1318867 D RGD:9854641|PMID:23007704 20150407 RGD mRNA:decreased expression:gastric adenocarcinoma (human) 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:630 genetic disease ISO RGD:1318867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318867 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563684 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563686 Lpar4 lysophosphatidic acid receptor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350247 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563686 Lpar4 lysophosphatidic acid receptor 4 gene DOID:12849 autistic disorder ISO RGD:1350247 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563686 Lpar4 lysophosphatidic acid receptor 4 gene DOID:630 genetic disease ISO RGD:1350247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1347522 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1347522 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1347522 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347522 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1347522 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30612693|PMID:30945334 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004009 Reperfusion Injury IDA D RGD:2293339|PMID:16805806 20081209 RGD protein:increased activity:hippocampus 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30612693|PMID:30945334 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:7240710 20190918 OMIM 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868|PMID:30612693|PMID:30945334 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347522 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Global developmental delay 1563691 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1563692 Mab21l4 mab-21 like 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1563692 Mab21l4 mab-21 like 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1563692 Mab21l4 mab-21 like 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1563692 Mab21l4 mab-21 like 4 gene DOID:1059 intellectual disability ISO RGD:1605342 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563692 Mab21l4 mab-21 like 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1563693 Magea10 MAGE family member A10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1563693 Magea10 MAGE family member A10 gene DOID:12849 autistic disorder ISO RGD:1345818 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563693 Magea10 MAGE family member A10 gene DOID:630 genetic disease ISO RGD:1345818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563696 Tmem182 transmembrane protein 182 gene DOID:0080600 COVID-19 ISO RGD:1604752 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563696 Tmem182 transmembrane protein 182 gene DOID:630 genetic disease ISO RGD:1604752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563697 Cyp2c24 cytochrome P450, family 2, subfamily c, polypeptide 24 gene DOID:3071 gliosarcoma ISO RGD:1322740 D RGD:11554173 20171226 CTD CTD Direct Evidence: therapeutic PMID:9766669 1563697 Cyp2c24 cytochrome P450, family 2, subfamily c, polypeptide 24 gene DOID:630 genetic disease ISO RGD:1322740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563697 Cyp2c24 cytochrome P450, family 2, subfamily c, polypeptide 24 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322740 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347474 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:25741868|PMID:25772934 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347474 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1347474 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:25741868|PMID:25772934 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1347474 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1347474 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:25741868|PMID:25772934 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111875 MLS syndrome ISO RGD:1347474 D RGD:8554872 20200619 ClinVar ClinVar Annotator: match by term: MLS syndrome PMID:25741868|PMID:25772934 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:7240710 20161019 OMIM 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:30423443|PMID:31243186 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1347474 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:25772934 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:7240710 20190315 OMIM 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:30423443|PMID:31243186 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:12849 autistic disorder ISO RGD:1347474 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:630 genetic disease ISO RGD:1347474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1563698 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347474 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563701 Wdcp WD repeat and coiled coil containing gene DOID:630 genetic disease ISO RGD:1601962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563703 Slc25a48 solute carrier family 25, member 48 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563703 Slc25a48 solute carrier family 25, member 48 gene DOID:630 genetic disease ISO RGD:1601716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563703 Slc25a48 solute carrier family 25, member 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601716 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563703 Slc25a48 solute carrier family 25, member 48 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563706 Gimd1 GIMAP family P-loop NTPase domain containing 1 gene DOID:630 genetic disease ISO RGD:6770684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563709 tuba1c-ps1 tubulin, alpha 1C, pseudogene 1 gene DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170324 RGD 1563711 Fibin fin bud initiation factor homolog gene DOID:1059 intellectual disability ISO RGD:1606090 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563711 Fibin fin bud initiation factor homolog gene DOID:630 genetic disease ISO RGD:1606090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563711 Fibin fin bud initiation factor homolog gene DOID:9775 diastolic heart failure ISO RGD:1606090 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1563714 Armh1 armadillo-like helical domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1563714 Armh1 armadillo-like helical domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606401 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1563714 Armh1 armadillo-like helical domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1563715 Gemin4 gem (nuclear organelle) associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:7240710 20220119 OMIM 1563715 Gemin4 gem (nuclear organelle) associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities PMID:25558065|PMID:25741868|PMID:27878435|PMID:30237576 1563715 Gemin4 gem (nuclear organelle) associated protein 4 gene DOID:10907 microcephaly ISO RGD:1344278 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25558065|PMID:25741868|PMID:27878435 1563715 Gemin4 gem (nuclear organelle) associated protein 4 gene DOID:630 genetic disease ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1563715 Gemin4 gem (nuclear organelle) associated protein 4 gene DOID:83 cataract ISO RGD:1344278 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25558065|PMID:25741868|PMID:27878435 1563715 Gemin4 gem (nuclear organelle) associated protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1344278 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:27878435 1563719 Cracr2a calcium release activated channel regulator 2A gene DOID:630 genetic disease ISO RGD:1603191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563719 Cracr2a calcium release activated channel regulator 2A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603191 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1563721 Otud7a OTU deubiquitinase 7A gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1351552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 1563721 Otud7a OTU deubiquitinase 7A gene DOID:0060041 autism spectrum disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 1563721 Otud7a OTU deubiquitinase 7A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1351552 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 1563721 Otud7a OTU deubiquitinase 7A gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1351552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 1563721 Otud7a OTU deubiquitinase 7A gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISS RGD:1620659 D RGD:13592920 20180518 MouseDO OMIM:612001 1563721 Otud7a OTU deubiquitinase 7A gene DOID:12849 autistic disorder ISO RGD:1351552 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 1563721 Otud7a OTU deubiquitinase 7A gene DOID:5419 schizophrenia ISO RGD:1351552 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563721 Otud7a OTU deubiquitinase 7A gene DOID:630 genetic disease ISO RGD:1351552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563721 Otud7a OTU deubiquitinase 7A gene DOID:8927 learning disability ISO RGD:1351552 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:31997314 1563721 Otud7a OTU deubiquitinase 7A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351552 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563721 Otud7a OTU deubiquitinase 7A gene DOID:9256 colorectal cancer ISO RGD:1351552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 1563721 Otud7a OTU deubiquitinase 7A gene DOID:93 language disorder ISO RGD:1351552 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:31997314 1563726 Spata16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:7240710 20130221 OMIM 1563726 Spata16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 1563726 Spata16 spermatogenesis associated 16 gene DOID:0111910 spermatogenic failure ISO RGD:1351808 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 1563726 Spata16 spermatogenesis associated 16 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 1563726 Spata16 spermatogenesis associated 16 gene DOID:1062 Fanconi syndrome ISO RGD:1351808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1563726 Spata16 spermatogenesis associated 16 gene DOID:12336 male infertility ISS RGD:1557391 D RGD:13592920 20180705 MouseDO 1563726 Spata16 spermatogenesis associated 16 gene DOID:630 genetic disease ISO RGD:1351808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563731 Cbln3 cerebellin 3 precursor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1563731 Cbln3 cerebellin 3 precursor gene DOID:630 genetic disease ISO RGD:1343800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563731 Cbln3 cerebellin 3 precursor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343800 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1563731 Cbln3 cerebellin 3 precursor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1563737 Tmem44 transmembrane protein 44 gene DOID:630 genetic disease ISO RGD:1344878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563746 Meioc meiosis specific with coiled-coil domain gene DOID:630 genetic disease ISO RGD:1605246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563748 Potem POTE ankyrin domain family member M gene DOID:630 genetic disease ISO RGD:3378638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563752 Pnma3 PNMA family member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349093 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563752 Pnma3 PNMA family member 3 gene DOID:0050476 Barth syndrome ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563752 Pnma3 PNMA family member 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563752 Pnma3 PNMA family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1563752 Pnma3 PNMA family member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563752 Pnma3 PNMA family member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563752 Pnma3 PNMA family member 3 gene DOID:12849 autistic disorder ISO RGD:1349093 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563752 Pnma3 PNMA family member 3 gene DOID:13628 favism ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1563752 Pnma3 PNMA family member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349093 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1563752 Pnma3 PNMA family member 3 gene DOID:607 paraplegia ISO RGD:1349093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563752 Pnma3 PNMA family member 3 gene DOID:630 genetic disease ISO RGD:1349093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563753 Frmpd3 FERM and PDZ domain containing 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1601735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1563753 Frmpd3 FERM and PDZ domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601735 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563753 Frmpd3 FERM and PDZ domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601735 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563764 Phf14 PHD finger protein 14 gene DOID:630 genetic disease ISO RGD:1349780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563765 Rad51c RAD51 paralog C gene DOID:0050777 Joubert syndrome ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1563765 Rad51c RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:12442171|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22406018|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29020732|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30680046|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33047316|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O susceptibility ISO RGD:1350974 D RGD:7240710 20230517 OMIM 1563765 Rad51c RAD51 paralog C gene DOID:10534 stomach cancer ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:16199547|PMID:17576681|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22725699|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26720728|PMID:26824983|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28802053|PMID:29566657|PMID:30093976|PMID:30322717|PMID:30875412|PMID:30927251|PMID:31300551|PMID:31815095|PMID:32107557|PMID:33333735|PMID:33471991|PMID:36988593|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:10907 microcephaly ISO RGD:1350974 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32566746 1563765 Rad51c RAD51 paralog C gene DOID:13636 Fanconi anemia ISO RGD:1350974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20400963 1563765 Rad51c RAD51 paralog C gene DOID:13636 Fanconi anemia ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24504028|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:27153395|PMID:28492532|PMID:32606146 1563765 Rad51c RAD51 paralog C gene DOID:1520 colon carcinoma ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:16199547|PMID:20400964|PMID:21537932|PMID:21990120|PMID:22538716|PMID:23117857|PMID:24800917|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587|PMID:30949688 1563765 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33471991|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:35565380|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:2394 ovarian cancer ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:20400964|PMID:21537932|PMID:21597919|PMID:21980511|PMID:22167183|PMID:23117857|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28864920|PMID:29158291|PMID:29263802|PMID:29641532|PMID:30093976|PMID:30982232|PMID:31567591|PMID:32068069|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34284872|PMID:34426522|PMID:35039523 1563765 Rad51c RAD51 paralog C gene DOID:2871 endometrial carcinoma ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:26681312|PMID:26687385|PMID:26822949|PMID:28492532|PMID:32295079 1563765 Rad51c RAD51 paralog C gene DOID:3459 breast carcinoma ISO RGD:1350974 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:20400964|PMID:21990120|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24240112|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28588062|PMID:30322717|PMID:30847381|PMID:30949688|PMID:31300551|PMID:32658311|PMID:33077847|PMID:33471991|PMID:36988593 1563765 Rad51c RAD51 paralog C gene DOID:5426 primary ovarian insufficiency ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:21537932|PMID:22476429|PMID:22538716|PMID:23117857|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33134171|PMID:33471991|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33333735|PMID:33471991|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1350974 D RGD:7240710 20230517 OMIM 1563765 Rad51c RAD51 paralog C gene DOID:630 genetic disease ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563765 Rad51c RAD51 paralog C gene DOID:6901 familiar ovarian carcinoma ISO RGD:1350974 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Familial ovarian carcinoma PMID:33832919 1563765 Rad51c RAD51 paralog C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20400964 1563765 Rad51c RAD51 paralog C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:16199547|PMID:20400963|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:23117857|PMID:23176254|PMID:24139550|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24800917|PMID:25086635|PMID:25452441|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26848151|PMID:27230542|PMID:27433846|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28767289|PMID:28802053|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29416752|PMID:29522266|PMID:29625052|PMID:29922827|PMID:30216591|PMID:30306255|PMID:30426508|PMID:30927251|PMID:31874108|PMID:32295079|PMID:32359370|PMID:32659497|PMID:32854451|PMID:32885271|PMID:33471991 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30927251|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33471991|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 1563765 Rad51c RAD51 paralog C gene DOID:9008939 Breast Neoplasms ISO RGD:1350974 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:20400964|PMID:28825726 1563765 Rad51c RAD51 paralog C gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20400964|PMID:21616938|PMID:21750962|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22538716|PMID:22725699|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25292178|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:26976419|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28492532|PMID:28678401|PMID:28829762|PMID:29458332|PMID:29785153|PMID:30374176 1563765 Rad51c RAD51 paralog C gene DOID:9460 uterine corpus cancer ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:12966089|PMID:17576681|PMID:22538716|PMID:24139550|PMID:25741868|PMID:26057125|PMID:26681312|PMID:27616075|PMID:27621404|PMID:28492532|PMID:28905878|PMID:29255180|PMID:29978187|PMID:30086788|PMID:30257646|PMID:30374176|PMID:31843900|PMID:31882575|PMID:32295079|PMID:32854451|PMID:33333735|PMID:9536098 1563775 Pcnp PEST proteolytic signal containing nuclear protein gene DOID:630 genetic disease ISO RGD:1603975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563777 Plac1 placenta enriched 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351974 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563777 Plac1 placenta enriched 1 gene DOID:12849 autistic disorder ISO RGD:1351974 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563777 Plac1 placenta enriched 1 gene DOID:630 genetic disease ISO RGD:1351974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:11198 DiGeorge syndrome ISO RGD:10400964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:12583 velocardiofacial syndrome ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:12849 autistic disorder ISO RGD:10400964 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:5419 schizophrenia ISO RGD:10400964 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1563782 Ccdc188 coiled-coil domain containing 188 gene DOID:9007661 Dwarfism ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1563788 Spmip4 sperm associated microtubule inner protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349806 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563788 Spmip4 sperm associated microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1349806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563798 Lsm14b LSM family member 14B gene DOID:630 genetic disease ISO RGD:1351489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563803 Lmnb2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1563803 Lmnb2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:7240710 20230517 OMIM 1563803 Lmnb2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy PMID:16826530|PMID:22768673|PMID:22995991|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532 1563803 Lmnb2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:7240710 20230517 OMIM 1563803 Lmnb2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:16826530|PMID:17576681|PMID:22768673|PMID:22995991|PMID:25741868|PMID:25954030|PMID:26467025|PMID:27535533|PMID:28166811|PMID:28492532|PMID:32041611|PMID:9536098 1563803 Lmnb2 lamin B2 gene DOID:630 genetic disease ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 1563803 Lmnb2 lamin B2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345535 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1563803 Lmnb2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:7240710 20230517 OMIM 1563803 Lmnb2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:8554872 20210316 ClinVar ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant PMID:33033404 1563803 Lmnb2 lamin B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345535 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563803 Lmnb2 lamin B2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1345535 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563804 Hcfc1 host cell factor C1 gene DOID:0050476 Barth syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563804 Hcfc1 host cell factor C1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1563804 Hcfc1 host cell factor C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 1563804 Hcfc1 host cell factor C1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:7240710 20130425 OMIM 1563804 Hcfc1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:17576681|PMID:18414213|PMID:1870093|PMID:23000143|PMID:23539139|PMID:24011988|PMID:25167861|PMID:25281006|PMID:25740848|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:28554332|PMID:35013307|PMID:9536098 1563804 Hcfc1 host cell factor C1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345622 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1563804 Hcfc1 host cell factor C1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:25741868 1563804 Hcfc1 host cell factor C1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563804 Hcfc1 host cell factor C1 gene DOID:1059 intellectual disability ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563804 Hcfc1 host cell factor C1 gene DOID:12849 autistic disorder ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:23000143|PMID:25740848|PMID:25741868|PMID:30208311 1563804 Hcfc1 host cell factor C1 gene DOID:13628 favism ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:607 paraplegia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563804 Hcfc1 host cell factor C1 gene DOID:630 genetic disease ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23539139|PMID:24011988|PMID:25740848|PMID:25741868|PMID:28492532|PMID:28554332 1563804 Hcfc1 host cell factor C1 gene DOID:655 inherited metabolic disorder ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307 1563804 Hcfc1 host cell factor C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345622 D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 1563804 Hcfc1 host cell factor C1 gene DOID:9002720 Splenomegaly ISO RGD:1345622 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1563804 Hcfc1 host cell factor C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345622 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1563804 Hcfc1 host cell factor C1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 1563804 Hcfc1 host cell factor C1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:23000143|PMID:25740848|PMID:25741868 1563804 Hcfc1 host cell factor C1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345622 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19255062 1563805 Dnah17 dynein, axonemal, heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:7240710 20191030 OMIM 1563805 Dnah17 dynein, axonemal, heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 39 PMID:25741868|PMID:31178125|PMID:31658987|PMID:33070343 1563805 Dnah17 dynein, axonemal, heavy chain 17 gene DOID:630 genetic disease ISO RGD:1345551 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1563805 Dnah17 dynein, axonemal, heavy chain 17 gene DOID:9007661 Dwarfism ISO RGD:1345551 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:2340 craniosynostosis ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1346289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:9269 maple syrup urine disease ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1563807 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:1059 intellectual disability ISO RGD:1342687 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:3070 high grade glioma ISO RGD:1342687 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1342687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1563823 Ehbp1l1 EH domain binding protein 1-like 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1563824 Wtap WT1 associated protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1563824 Wtap WT1 associated protein gene DOID:630 genetic disease ISO RGD:1321461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563832 Lrrc30 leucine rich repeat containing 30 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343727 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1563832 Lrrc30 leucine rich repeat containing 30 gene DOID:1059 intellectual disability ISO RGD:1343727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563832 Lrrc30 leucine rich repeat containing 30 gene DOID:630 genetic disease ISO RGD:1343727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563837 LOC361346 similar to chromosome 18 open reading frame 54 gene DOID:1059 intellectual disability ISO RGD:1348374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563839 Fastkd5 FAST kinase domains 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1602469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1563839 Fastkd5 FAST kinase domains 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1563839 Fastkd5 FAST kinase domains 5 gene DOID:5419 schizophrenia ISO RGD:1602469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1563839 Fastkd5 FAST kinase domains 5 gene DOID:630 genetic disease ISO RGD:1602469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563839 Fastkd5 FAST kinase domains 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0050476 Barth syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1557574 D RGD:7495791|PMID:23619365 20131213 RGD mRNA:decreased expression:heart left ventricle 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0060320 inguinal hernia ISO RGD:1348457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348457 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10986043|PMID:14560307|PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22476991|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348457 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:1206 Rett syndrome ISO RGD:1348457 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:15712379 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:12849 autistic disorder ISO RGD:1348457 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:13628 favism ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:1561 cognitive disorder treatment IEP D RGD:7495794|PMID:22277195 20131213 RGD 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348457 D RGD:7495782|PMID:21898345 20131212 RGD DNA:missense mutation:cds:p.F196S (rs1059702) (human) 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:1348457 D RGD:7495785|PMID:24302991 20131212 RGD 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:2316 brain ischemia IEP D RGD:7495802|PMID:21925238 20131213 RGD mRNA, protein:increased expression:cerebral cortex 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:3393 coronary artery disease ISO RGD:1348457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:607 paraplegia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:630 genetic disease ISO RGD:1348457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1348457 D RGD:7495783|PMID:20500689 20131212 RGD DNA:SNP:enhancer: (rs3027898) (human) 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:820 myocarditis ISO RGD:1557574 D RGD:1582271|PMID:12860565 20061103 RGD 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:8893 psoriasis ISO RGD:1348457 D RGD:7495784|PMID:23018031 20131212 RGD 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1348457 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1348457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9005091 Lentivirus Infections ISO RGD:1348457 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348457 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1579809|PMID:15793310 20110310 RGD protein:increased activity:ventricle myocardium (rat) 1563841 Irak1 interleukin-1 receptor-associated kinase 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1348457 D RGD:7495783|PMID:20500689 20131212 RGD DNA:SNP:enhancer: (rs3027898) (human) 1563842 M1ap meiosis 1 associated protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604532 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32673564 1563842 M1ap meiosis 1 associated protein gene DOID:0070176 spermatogenic failure 4 ISO RGD:1604532 D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32017041 1563842 M1ap meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:7240710 20201209 OMIM 1563842 M1ap meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 48 PMID:25741868|PMID:32017041|PMID:32673564 1563842 M1ap meiosis 1 associated protein gene DOID:630 genetic disease ISO RGD:1604532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563842 M1ap meiosis 1 associated protein gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1604532 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:32673564 1563852 Erich2 glutamate-rich 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:6903373 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1563853 Cul4a cullin 4A gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 1563853 Cul4a cullin 4A gene DOID:0060224 atrial fibrillation ISO RGD:1351332 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1563853 Cul4a cullin 4A gene DOID:2222 factor X deficiency ISO RGD:1351332 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1563853 Cul4a cullin 4A gene DOID:630 genetic disease ISO RGD:1351332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563855 Hccs holocytochrome c synthase gene DOID:0080600 COVID-19 ISO RGD:1352684 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563855 Hccs holocytochrome c synthase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:7240710 20130221 OMIM 1563855 Hccs holocytochrome c synthase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:16059943|PMID:17033964|PMID:17893649|PMID:25741868 1563855 Hccs holocytochrome c synthase gene DOID:1059 intellectual disability ISO RGD:1352684 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 1563855 Hccs holocytochrome c synthase gene DOID:10629 microphthalmia ISO RGD:1352684 D RGD:1600417|PMID:17033964 20070308 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C 1563855 Hccs holocytochrome c synthase gene DOID:10629 microphthalmia ISS RGD:1558032 D RGD:13592920 20180518 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 1563855 Hccs holocytochrome c synthase gene DOID:12849 autistic disorder ISO RGD:1352684 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563855 Hccs holocytochrome c synthase gene DOID:630 genetic disease ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1563855 Hccs holocytochrome c synthase gene DOID:9001946 Skin Abnormalities ISO RGD:1352684 D RGD:1600417|PMID:17033964 20070308 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C 1563855 Hccs holocytochrome c synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352684 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563856 Nphp3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 1563856 Nphp3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:31131822|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 1563856 Nphp3 nephrocystin 3 gene DOID:0050778 Meckel syndrome ISO RGD:1342817 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:7240710 20130221 OMIM 1563856 Nphp3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:26184788|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:18371931|PMID:20007846|PMID:23559409|PMID:25741868|PMID:26673778|PMID:27894351|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864 1563856 Nphp3 nephrocystin 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1342817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 1563856 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:11071511|PMID:12872122 20160929 RGD DNA:mutations:exon, intron:multiple 1563856 Nphp3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:7240710 20130221 OMIM 1563856 Nphp3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34212438|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:10763 hypertension ISO RGD:1342817 D RGD:155791686|PMID:19177160 20230106 RGD associated with nephronophthisis; 1563856 Nphp3 nephrocystin 3 gene DOID:12215 oligohydramnios ISO RGD:1342817 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:11065524|PMID:17855640 20160929 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28891274|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1342817 D RGD:8554872 20141111 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1563856 Nphp3 nephrocystin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342817 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:2975 cystic kidney disease ISO RGD:1556941 D RGD:11352488|PMID:18371931 20160928 RGD DNA:missense mutation: :p.I614S (mouse) 1563856 Nphp3 nephrocystin 3 gene DOID:557 kidney disease ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:630 genetic disease ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:28492532 1563856 Nphp3 nephrocystin 3 gene DOID:758 situs inversus ISO RGD:1556941 D RGD:11352488|PMID:18371931 20160928 RGD 1563856 Nphp3 nephrocystin 3 gene DOID:898 autosomal dominant polycystic kidney disease ISS RGD:1556941 D RGD:13592920 20180518 MouseDO 1563856 Nphp3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:7240710 20130221 OMIM 1563856 Nphp3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:8874114|PMID:9536098 1563856 Nphp3 nephrocystin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1342817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 1563856 Nphp3 nephrocystin 3 gene DOID:9007653 Multiple Abnormalities ISO RGD:1342817 D RGD:11352488|PMID:18371931 20160928 RGD DNA:missense mutation, nonsense mutations, splice-site mutations:multiple 1563856 Nphp3 nephrocystin 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342817 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1563856 Nphp3 nephrocystin 3 gene DOID:9270 alkaptonuria ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1563858 Hesx1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:1601424|PMID:9620767 20070419 RGD DNA:transition:CDS:p.R160C (478C>T) human 1563858 Hesx1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:7240710 20200115 OMIM 1563858 Hesx1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia, mild PMID:10599689|PMID:11136712|PMID:11748154|PMID:14557462|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:21270112|PMID:21325470|PMID:22466334|PMID:23465708|PMID:24703149|PMID:25741868|PMID:25910213|PMID:26781211|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:28332357|PMID:28396770|PMID:28492532|PMID:30888394|PMID:31022718|PMID:31395954|PMID:32796691|PMID:32870266|PMID:33451138|PMID:8696006|PMID:9536098|PMID:9620767 1563858 Hesx1 HESX homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 1563858 Hesx1 HESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1353119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136712|PMID:17315526|PMID:17576681|PMID:22145475|PMID:23465708|PMID:25741868|PMID:28492532|PMID:9536098 1563858 Hesx1 HESX homeobox 1 gene DOID:9002446 Combined Pituitary Hormone Deficiency 5 ISO RGD:1353119 D RGD:11554173 20200121 CTD CTD Direct Evidence: marker/mechanism 1563858 Hesx1 HESX homeobox 1 gene DOID:9002446 Combined Pituitary Hormone Deficiency 5 ISO RGD:1353119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 5 PMID:11136712|PMID:14561704|PMID:16940453|PMID:17148560|PMID:18852528|PMID:28492532|PMID:31022718|PMID:33451138 1563858 Hesx1 HESX homeobox 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1563858 Hesx1 HESX homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 1563858 Hesx1 HESX homeobox 1 gene DOID:9406 hypopituitarism ISS RGD:1558586 D RGD:13592920 20180518 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354498 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0080006 bone development disease ISO RGD:1354498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:7240710 20141015 OMIM 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:10319851|PMID:11180593|PMID:17100996|PMID:19377476|PMID:25741868|PMID:28492532 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:1059 intellectual disability ISO RGD:1354498 D RGD:1601643|PMID:8955270 20070426 RGD Coffin-Lowry syndrome,OMIM:303600;DNA:deletion, DNA:point mutations 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:1059 intellectual disability ISO RGD:1354498 D RGD:1601644|PMID:10319851 20070426 RGD X-linked mental retardation,non-specific;DNA:point mutation:exon:R383W 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:1059 intellectual disability ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10094187|PMID:11180593|PMID:16879200|PMID:19377476|PMID:25741868|PMID:28492532 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:12849 autistic disorder ISO RGD:1354498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8955270|PMID:21488662 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:7240710 20130221 OMIM 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10094187|PMID:10528858|PMID:11180593|PMID:11992250|PMID:12439904|PMID:12558110|PMID:14986828|PMID:15214012|PMID:16199547|PMID:16306095|PMID:16879200|PMID:17304053|PMID:17576681|PMID:17717706|PMID:18076117|PMID:18414213|PMID:19377476|PMID:19888300|PMID:25044551|PMID:25315662|PMID:25741868|PMID:26043507|PMID:26232052|PMID:28492532|PMID:29304373|PMID:30945684|PMID:31130284|PMID:31319225|PMID:32371413|PMID:5581017|PMID:8955270|PMID:9536098|PMID:9837815|PMID:9887375 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:630 genetic disease ISO RGD:1354498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094187|PMID:11180593|PMID:11992250|PMID:16879200|PMID:18414213|PMID:19377476|PMID:22187936|PMID:25644381|PMID:25741868|PMID:26633542|PMID:28492532|PMID:8955270|PMID:9837815 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:684 hepatocellular carcinoma ISO RGD:1354498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9003133 Hypertelorism ISO RGD:1354498 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9004507 Hirsutism ISO RGD:1354498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:25741868|PMID:28492532 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354498 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1563860 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9008514 Psychomotor Disorders ISO RGD:1354498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 1563863 Dnaaf10 dynein axonemal assembly factor 10 gene DOID:630 genetic disease ISO RGD:1605887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2798065 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:1059 intellectual disability ISO RGD:2798065 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:12704 ataxia telangiectasia ISO RGD:2798065 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:630 genetic disease ISO RGD:2798065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2798065 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1563866 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1563868 Tbl1x transducin (beta)-like 1 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1346534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050706 1563868 Tbl1x transducin (beta)-like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:7240710 20191009 OMIM 1563868 Tbl1x transducin (beta)-like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 PMID:25741868|PMID:27603907|PMID:30591955 1563868 Tbl1x transducin (beta)-like 1 X-linked gene DOID:12849 autistic disorder ISO RGD:1346534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563868 Tbl1x transducin (beta)-like 1 X-linked gene DOID:630 genetic disease ISO RGD:1346534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563868 Tbl1x transducin (beta)-like 1 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346534 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563869 Zfp704 zinc finger protein 704 gene DOID:630 genetic disease ISO RGD:1605749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563873 Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347831 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563873 Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1347831 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 1563873 Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 gene DOID:12849 autistic disorder ISO RGD:1347831 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563873 Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 gene DOID:630 genetic disease ISO RGD:1347831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563876 Tc2n tandem C2 domains, nuclear gene DOID:0080054 achondrogenesis type IA ISO RGD:1349748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1563876 Tc2n tandem C2 domains, nuclear gene DOID:630 genetic disease ISO RGD:1349748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563878 Asb16 ankyrin repeat and SOCS box-containing 16 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1313384 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 1563878 Asb16 ankyrin repeat and SOCS box-containing 16 gene DOID:630 genetic disease ISO RGD:1313384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1603302 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:12177 common variable immunodeficiency ISO RGD:1603302 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:2729 dyskeratosis congenita ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1563885 Borcs6 BLOC-1 related complex subunit 6 gene DOID:630 genetic disease ISO RGD:1603302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563886 Majin membrane anchored junction protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1563886 Majin membrane anchored junction protein gene DOID:1059 intellectual disability ISO RGD:1604186 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563886 Majin membrane anchored junction protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1563886 Majin membrane anchored junction protein gene DOID:2746 glycogen storage disease V ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1563886 Majin membrane anchored junction protein gene DOID:3070 high grade glioma ISO RGD:1604186 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1563886 Majin membrane anchored junction protein gene DOID:630 genetic disease ISO RGD:1604186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563887 Gprc5d G protein-coupled receptor, class C, group 5, member D gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344418 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1563887 Gprc5d G protein-coupled receptor, class C, group 5, member D gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344418 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1563887 Gprc5d G protein-coupled receptor, class C, group 5, member D gene DOID:630 genetic disease ISO RGD:1344418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563888 RGD1563888 similar to DNA segment, Chr 16, ERATO Doi 472, expressed gene DOID:10652 Alzheimer's disease ISO RGD:1352771 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 1563888 RGD1563888 similar to DNA segment, Chr 16, ERATO Doi 472, expressed gene DOID:630 genetic disease ISO RGD:1352771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563888 RGD1563888 similar to DNA segment, Chr 16, ERATO Doi 472, expressed gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352771 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563889 Fbxw10 F-box and WD repeat domain containing 10 gene DOID:0050777 Joubert syndrome ISO RGD:1344414 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1563889 Fbxw10 F-box and WD repeat domain containing 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1344414 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1563889 Fbxw10 F-box and WD repeat domain containing 10 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344414 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1563889 Fbxw10 F-box and WD repeat domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1344414 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563891 Gcnt4 glucosaminyl (N-acetyl) transferase 4 gene DOID:3323 Sandhoff disease ISO RGD:1602489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 1563891 Gcnt4 glucosaminyl (N-acetyl) transferase 4 gene DOID:630 genetic disease ISO RGD:1602489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563891 Gcnt4 glucosaminyl (N-acetyl) transferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602489 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563892 Dact3 dishevelled-binding antagonist of beta-catenin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601931 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 1563892 Dact3 dishevelled-binding antagonist of beta-catenin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1601931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 1563892 Dact3 dishevelled-binding antagonist of beta-catenin 3 gene DOID:1059 intellectual disability ISO RGD:1601931 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1563892 Dact3 dishevelled-binding antagonist of beta-catenin 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1563892 Dact3 dishevelled-binding antagonist of beta-catenin 3 gene DOID:630 genetic disease ISO RGD:1601931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1606152 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:0060780 congenital diarrhea 6 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:0080216 duodenal atresia ISO RGD:1606152 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Duodenal atresia 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1606152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:630 genetic disease ISO RGD:1606152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:8778 Crohn's disease ISO RGD:1606152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:9006465 Meconium Ileus ISO RGD:1606152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:4006357 1563896 LOC500354 similar to C030030A07Rik protein gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1606152 D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1602872 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:29934816 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1602872 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602872 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1602872 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1563901 Col20a1 collagen type XX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1602872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:7240710 20130221 OMIM 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acheiropodia PMID:11090342|PMID:33863876 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1352056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:7240710 20141112 OMIM 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:8554872 20141209 ClinVar ClinVar Annotator: match by term: Laurin-Sandrow syndrome PMID:16059937|PMID:24456159 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:7240710 20170405 OMIM 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly PMID:12837695|PMID:18156157|PMID:19847792|PMID:24777739|PMID:24965254|PMID:28492532|PMID:29651423|PMID:7726219|PMID:9950363 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:7240710 20130221 OMIM 1563910 Lmbr1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 4 PMID:18417549|PMID:1849351|PMID:19847792 1563910 Lmbr1 limb development membrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1352056 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563910 Lmbr1 limb development membrane protein 1 gene DOID:630 genetic disease ISO RGD:1352056 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563910 Lmbr1 limb development membrane protein 1 gene DOID:9001425 Triphalangeal Thumb ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:24777739|PMID:28492532|PMID:29651423 1563910 Lmbr1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:7240710 20221102 OMIM 1563910 Lmbr1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:10937618|PMID:12837695|PMID:17152067|PMID:17300748|PMID:18178630|PMID:18417549|PMID:18463159|PMID:19519794|PMID:20569257|PMID:24777739|PMID:28492532|PMID:29651423|PMID:8012392 1563910 Lmbr1 limb development membrane protein 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1555907 D RGD:1600688|PMID:11090342 20070322 RGD DNA:deletion:exon; Acheiropody, OMIM:200500 1563910 Lmbr1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:7240710 20130221 OMIM 1563910 Lmbr1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:19519794|PMID:20569257|PMID:24777739|PMID:28492532|PMID:29651423|PMID:8012392 1563912 Snhg11 small nucleolar RNA host gene 11 gene DOID:2234 focal epilepsy ISO RGD:1601936 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1563912 Snhg11 small nucleolar RNA host gene 11 gene DOID:9007188 Liver Neoplasms ISO RGD:1601936 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868|PMID:32165824|PMID:32820033 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:25741868|PMID:32165824|PMID:32820033 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603597 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32820033 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:7240710 20220316 OMIM 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental delay with variable neurologic and brain abnormalities PMID:25741868|PMID:32165824|PMID:32820033 1563920 Lmbrd2 LMBR1 domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32165824|PMID:32820033 1563924 Cdc42se2 CDC42 small effector 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563924 Cdc42se2 CDC42 small effector 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 1563924 Cdc42se2 CDC42 small effector 2 gene DOID:630 genetic disease ISO RGD:1343863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563924 Cdc42se2 CDC42 small effector 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343863 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563924 Cdc42se2 CDC42 small effector 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1563929 Nobox NOBOX oogenesis homeobox gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1604996 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532 1563929 Nobox NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:7240710 20130425 OMIM 1563929 Nobox NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 5 PMID:17701902|PMID:18930203|PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532|PMID:31042289|PMID:33116287 1563929 Nobox NOBOX oogenesis homeobox gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1604996 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 1563929 Nobox NOBOX oogenesis homeobox gene DOID:5426 primary ovarian insufficiency ISO RGD:1604996 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1563929 Nobox NOBOX oogenesis homeobox gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604996 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 1563929 Nobox NOBOX oogenesis homeobox gene DOID:630 genetic disease ISO RGD:1604996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563929 Nobox NOBOX oogenesis homeobox gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1604996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:22152682|PMID:25458521|PMID:28492532 1563929 Nobox NOBOX oogenesis homeobox gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604996 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 1563935 Sh2d1b SH2 domain containing 1B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1563935 Sh2d1b SH2 domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1606747 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563935 Sh2d1b SH2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1606747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563935 Sh2d1b SH2 domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606747 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563939 Fcrl6 Fc receptor-like 6 gene DOID:0080600 COVID-19 ISO RGD:1606397 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1563939 Fcrl6 Fc receptor-like 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1563939 Fcrl6 Fc receptor-like 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1606397 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1563939 Fcrl6 Fc receptor-like 6 gene DOID:630 genetic disease ISO RGD:1606397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563939 Fcrl6 Fc receptor-like 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606397 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1563940 Plekha8 pleckstrin homology domain containing A8 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1563940 Plekha8 pleckstrin homology domain containing A8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348276 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563940 Plekha8 pleckstrin homology domain containing A8 gene DOID:630 genetic disease ISO RGD:1348276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563941 C8h11orf71 similar to human chromosome 11 open reading frame 71 gene DOID:1059 intellectual disability ISO RGD:1604001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563941 C8h11orf71 similar to human chromosome 11 open reading frame 71 gene DOID:630 genetic disease ISO RGD:1604001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563941 C8h11orf71 similar to human chromosome 11 open reading frame 71 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604001 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1563944 Nsg2 neuronal vesicle trafficking associated 2 gene DOID:630 genetic disease ISO RGD:1602121 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563945 Jade3 jade family PHD finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344107 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563945 Jade3 jade family PHD finger 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1563945 Jade3 jade family PHD finger 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 1563945 Jade3 jade family PHD finger 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1563945 Jade3 jade family PHD finger 3 gene DOID:12849 autistic disorder ISO RGD:1344107 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563945 Jade3 jade family PHD finger 3 gene DOID:630 genetic disease ISO RGD:1344107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563945 Jade3 jade family PHD finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344107 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563946 Ano8 anoctamin 8 gene DOID:630 genetic disease ISO RGD:1349559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563952 Mospd2 motile sperm domain containing 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1563952 Mospd2 motile sperm domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350806 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563952 Mospd2 motile sperm domain containing 2 gene DOID:13636 Fanconi anemia ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1563952 Mospd2 motile sperm domain containing 2 gene DOID:630 genetic disease ISO RGD:1350806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563952 Mospd2 motile sperm domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350806 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563954 Msh3 mutS homolog 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1353031 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1563954 Msh3 mutS homolog 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1353031 D RGD:1625103|PMID:9401011 20070521 RGD 1563954 Msh3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:7240710 20190315 OMIM 1563954 Msh3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29641532|PMID:31127692|PMID:31589614|PMID:32619037|PMID:32634176|PMID:33193653|PMID:34308366|PMID:8782829|PMID:9536098 1563954 Msh3 mutS homolog 3 gene DOID:1324 lung cancer ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 1563954 Msh3 mutS homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1353031 D RGD:7240710 20190213 OMIM 1563954 Msh3 mutS homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353031 D RGD:1600456|PMID:8782829 20070309 RGD 1563954 Msh3 mutS homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11470537|PMID:17576681|PMID:20981092|PMID:21128252|PMID:25741868|PMID:26467025|PMID:27476653|PMID:27696107|PMID:28492532|PMID:28528517|PMID:28944238|PMID:29641532|PMID:30719162|PMID:31589614|PMID:32008151|PMID:32365829|PMID:32634176|PMID:32635641|PMID:33007869|PMID:33606809|PMID:8782829|PMID:9536098 1563954 Msh3 mutS homolog 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353031 D RGD:126848786|PMID:28093084 20210430 RGD DNA:SNPs: :rs6151627, rs6151670, rs7709909 (human) 1563954 Msh3 mutS homolog 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1353031 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 1563954 Msh3 mutS homolog 3 gene DOID:4435 cavernous sinus meningioma ISO RGD:1353031 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:26467025|PMID:31371350|PMID:31627758 1563954 Msh3 mutS homolog 3 gene DOID:630 genetic disease ISO RGD:1353031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563954 Msh3 mutS homolog 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 1563954 Msh3 mutS homolog 3 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1353031 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868 1563954 Msh3 mutS homolog 3 gene DOID:9000027 Microsatellite Instability ISO RGD:1353031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 1563954 Msh3 mutS homolog 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18355840 1563954 Msh3 mutS homolog 3 gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:24033266|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758 1563954 Msh3 mutS homolog 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1353031 D RGD:1625103|PMID:9401011 20070521 RGD 1563954 Msh3 mutS homolog 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353031 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563954 Msh3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30740464|PMID:31054147|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:8782829|PMID:8838312|PMID:9536098 1563954 Msh3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:36419139|PMID:8782829|PMID:8838312|PMID:9536098 1563954 Msh3 mutS homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353031 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 1563954 Msh3 mutS homolog 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353031 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 1563955 Prss56 serine protease 56 gene DOID:0060476 Perlman syndrome ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1563955 Prss56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:7240710 20130221 OMIM 1563955 Prss56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:15823920|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 1563955 Prss56 serine protease 56 gene DOID:0080634 nanophthalmos ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737 1563955 Prss56 serine protease 56 gene DOID:0110991 Joubert syndrome 22 ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1563955 Prss56 serine protease 56 gene DOID:10629 microphthalmia ISO RGD:5128927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 1563955 Prss56 serine protease 56 gene DOID:11830 myopia ISO RGD:5128927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 1563955 Prss56 serine protease 56 gene DOID:13550 angle-closure glaucoma ISO RGD:5128927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 1563955 Prss56 serine protease 56 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:5128927 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1563955 Prss56 serine protease 56 gene DOID:630 genetic disease ISO RGD:5128927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1563955 Prss56 serine protease 56 gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:5128927 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 1563959 Zfp706 zinc finger protein 706 gene DOID:0111590 Cohen syndrome ISO RGD:1602889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0050535 exudative vitreoretinopathy ISS RGD:1558298 D RGD:13592920 20180518 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:1343189 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:25741868 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0060693 Brunner syndrome ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343189 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:7240710 20130221 OMIM 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:10484772|PMID:10773814|PMID:11748312|PMID:1303235|PMID:1303264|PMID:1307245|PMID:14635119|PMID:15776010|PMID:16970763|PMID:17296899|PMID:17334993|PMID:20340138|PMID:20385941|PMID:22563645|PMID:22786811|PMID:23141577|PMID:25711638|PMID:25741868|PMID:26547627|PMID:28492532|PMID:30097784|PMID:30311386|PMID:30452590|PMID:31030433|PMID:31456290|PMID:7627181|PMID:7814011|PMID:8069314|PMID:8240113|PMID:8268931|PMID:8790105|PMID:8990009|PMID:9143918|PMID:9382152 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:7240710 20180214 OMIM 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked PMID:17050281|PMID:17296899|PMID:20491809|PMID:25741868|PMID:26158506|PMID:28492532|PMID:7558002|PMID:7795608|PMID:8252044|PMID:8457509|PMID:8535448|PMID:8832723|PMID:8946107|PMID:9143917|PMID:9382152|PMID:95062|PMID:9618247 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:8694209|PMID:8252044 20140729 RGD DNA:missense mutation: :p.L124F (human) 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:12849 autistic disorder ISO RGD:1343189 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:13025 retinopathy of prematurity severity ISO RGD:1343189 D RGD:8694210|PMID:9152134 20140729 RGD DNA:missense mutations:exon:p.R121W, p.L108P (human) 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:3612 retinitis ISO RGD:1343189 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:4449 macular retinal edema ISO RGD:1343189 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:5327 retinal detachment ISO RGD:1343189 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:630 genetic disease ISO RGD:1343189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20340138|PMID:28492532 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:7765 Coats disease ISO RGD:1343189 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:26908610 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343189 D RGD:1600222|PMID:1303235 20070305 RGD Norrie Disease, OMIM:310600, DNA:point mutations:exon 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1558298 D RGD:8694208|PMID:20053900 20140729 RGD 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343189 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:9004538 Hearing Loss ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:14635119|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31456290 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:9007748 Retinal Neovascularization ISO RGD:1343189 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 1563968 Ndp norrin cystine knot growth factor NDP gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 1563971 Trappc5 trafficking protein particle complex subunit 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1563971 Trappc5 trafficking protein particle complex subunit 5 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1344244 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1563971 Trappc5 trafficking protein particle complex subunit 5 gene DOID:630 genetic disease ISO RGD:1344244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563973 Maneal mannosidase, endo-alpha-like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604520 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1563973 Maneal mannosidase, endo-alpha-like gene DOID:630 genetic disease ISO RGD:1604520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563975 Tex13c TEX13 family member C gene DOID:12849 autistic disorder ISO RGD:10449326 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563977 Epb41l2 erythrocyte membrane protein band 4.1-like 2 gene DOID:630 genetic disease ISO RGD:1348118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563977 Epb41l2 erythrocyte membrane protein band 4.1-like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1563979 Prickle4 prickle planar cell polarity protein 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1563979 Prickle4 prickle planar cell polarity protein 4 gene DOID:630 genetic disease ISO RGD:1347495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563979 Prickle4 prickle planar cell polarity protein 4 gene DOID:905 Zellweger syndrome ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1563982 Fbxo27 F-box protein 27 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1563982 Fbxo27 F-box protein 27 gene DOID:630 genetic disease ISO RGD:1343305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563982 Fbxo27 F-box protein 27 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1563983 Ubl4a ubiquitin-like 4A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563983 Ubl4a ubiquitin-like 4A gene DOID:0050476 Barth syndrome ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563983 Ubl4a ubiquitin-like 4A gene DOID:0050800 creatine transporter deficiency ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563983 Ubl4a ubiquitin-like 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348580 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1563983 Ubl4a ubiquitin-like 4A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348580 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 1563983 Ubl4a ubiquitin-like 4A gene DOID:0112003 immunodeficiency 33 ISO RGD:1348580 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1563983 Ubl4a ubiquitin-like 4A gene DOID:10588 adrenoleukodystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563983 Ubl4a ubiquitin-like 4A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563983 Ubl4a ubiquitin-like 4A gene DOID:12849 autistic disorder ISO RGD:1348580 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1563983 Ubl4a ubiquitin-like 4A gene DOID:13628 favism ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1563983 Ubl4a ubiquitin-like 4A gene DOID:2729 dyskeratosis congenita ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1563983 Ubl4a ubiquitin-like 4A gene DOID:607 paraplegia ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1563983 Ubl4a ubiquitin-like 4A gene DOID:630 genetic disease ISO RGD:1348580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563983 Ubl4a ubiquitin-like 4A gene DOID:9002720 Splenomegaly ISO RGD:1348580 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1563984 Hoxc13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:7240710 20140911 OMIM 1563984 Hoxc13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type PMID:23063621|PMID:23315978|PMID:25741868 1563984 Hoxc13 homeobox C13 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1349214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1563984 Hoxc13 homeobox C13 gene DOID:630 genetic disease ISO RGD:1349214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563984 Hoxc13 homeobox C13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349214 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563985 Zpbp zona pellucida binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351452 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1563985 Zpbp zona pellucida binding protein gene DOID:630 genetic disease ISO RGD:1351452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563985 Zpbp zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:7240710 20220406 OMIM 1563985 Zpbp zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 66 PMID:31985809 1563986 Dennd11 DENN domain containing 11 gene DOID:0080690 RASopathy ISO RGD:1603618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1563986 Dennd11 DENN domain containing 11 gene DOID:630 genetic disease ISO RGD:1603618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563987 Abhd18 abhydrolase domain containing 18 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1604791 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 1563987 Abhd18 abhydrolase domain containing 18 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1563987 Abhd18 abhydrolase domain containing 18 gene DOID:630 genetic disease ISO RGD:1604791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563988 Morn2 MORN repeat containing 2 gene DOID:0080690 RASopathy ISO RGD:2303892 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1563988 Morn2 MORN repeat containing 2 gene DOID:3883 Lynch syndrome ISO RGD:2303892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1563988 Morn2 MORN repeat containing 2 gene DOID:630 genetic disease ISO RGD:2303892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563988 Morn2 MORN repeat containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303892 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347490 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347490 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1347490 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:23749797|PMID:33987933 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:1347490 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:1347490 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1563990 Ppp6r2 protein phosphatase 6, regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1347490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563995 Gar1 GAR1 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1346713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 1563995 Gar1 GAR1 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1346713 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1563995 Gar1 GAR1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1346713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563995 Gar1 GAR1 ribonucleoprotein gene DOID:74 hematopoietic system disease ISO RGD:1346713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 1563995 Gar1 GAR1 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1346713 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1563996 Shisa8 shisa family member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1563996 Shisa8 shisa family member 8 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345156 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1563996 Shisa8 shisa family member 8 gene DOID:630 genetic disease ISO RGD:1345156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1563998 Scube2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1352842 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1563998 Scube2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:630 genetic disease ISO RGD:1352842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564002 Emx1 empty spiracles homeobox 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1345106 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1564002 Emx1 empty spiracles homeobox 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1345106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1564002 Emx1 empty spiracles homeobox 1 gene DOID:543 dystonia ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1564002 Emx1 empty spiracles homeobox 1 gene DOID:630 genetic disease ISO RGD:1345106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564002 Emx1 empty spiracles homeobox 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1564004 Spin4 spindlin family, member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602297 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564004 Spin4 spindlin family, member 4 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1602297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 1564004 Spin4 spindlin family, member 4 gene DOID:12849 autistic disorder ISO RGD:1602297 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564005 Ankrd13b ankyrin repeat domain 13B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1564005 Ankrd13b ankyrin repeat domain 13B gene DOID:630 genetic disease ISO RGD:1606740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564007 Gramd2a GRAM domain containing 2A gene DOID:2717 Bloom syndrome ISO RGD:1605266 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564007 Gramd2a GRAM domain containing 2A gene DOID:3320 Tay-Sachs disease ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1564007 Gramd2a GRAM domain containing 2A gene DOID:630 genetic disease ISO RGD:1605266 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564007 Gramd2a GRAM domain containing 2A gene DOID:9256 colorectal cancer ISO RGD:1605266 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564008 Dact1 dishevelled-binding antagonist of beta-catenin 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1348421 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1564008 Dact1 dishevelled-binding antagonist of beta-catenin 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1348421 D RGD:8554872 20170404 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459 1564008 Dact1 dishevelled-binding antagonist of beta-catenin 1 gene DOID:630 genetic disease ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36066768 1564008 Dact1 dishevelled-binding antagonist of beta-catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:7240710 20190315 OMIM 1564008 Dact1 dishevelled-binding antagonist of beta-catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Townes-Brocks syndrome 2 PMID:25741868|PMID:28054444|PMID:28492532|PMID:36066768 1564008 Dact1 dishevelled-binding antagonist of beta-catenin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348421 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1564009 Tada3 transcriptional adaptor 3 gene DOID:2843 long QT syndrome ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1564009 Tada3 transcriptional adaptor 3 gene DOID:630 genetic disease ISO RGD:1314884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564009 Tada3 transcriptional adaptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314884 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564009 Tada3 transcriptional adaptor 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314884 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1564010 Edaradd EDAR associated via death domain gene DOID:0050591 tooth agenesis ISO RGD:1351297 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 1564010 Edaradd EDAR associated via death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:7240710 20140911 OMIM 1564010 Edaradd EDAR associated via death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25640679|PMID:25741868|PMID:28492532 1564010 Edaradd EDAR associated via death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:7240710 20140911 OMIM 1564010 Edaradd EDAR associated via death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:11780064|PMID:17354266|PMID:25741868|PMID:26991760|PMID:28492532|PMID:9245989 1564010 Edaradd EDAR associated via death domain gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351297 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1564010 Edaradd EDAR associated via death domain gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:9245989 1564010 Edaradd EDAR associated via death domain gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351297 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 1564010 Edaradd EDAR associated via death domain gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351297 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1564010 Edaradd EDAR associated via death domain gene DOID:10754 otitis media IAGP D RGD:14398763|PMID:31028034 20190430 RGD 1564010 Edaradd EDAR associated via death domain gene DOID:14793 hypohidrotic ectodermal dysplasia IAGP D RGD:14398762|PMID:22013926 20190430 RGD DNA:missense mutation:exon:p.Pro153Ser(rat) 1564010 Edaradd EDAR associated via death domain gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532 1564010 Edaradd EDAR associated via death domain gene DOID:1540 parathyroid carcinoma ISO RGD:1351297 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564010 Edaradd EDAR associated via death domain gene DOID:2121 ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:25741868|PMID:28492532 1564010 Edaradd EDAR associated via death domain gene DOID:630 genetic disease ISO RGD:1351297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564010 Edaradd EDAR associated via death domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351297 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564013 Stmnd1 stathmin domain containing 1 gene DOID:630 genetic disease ISO RGD:7205150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564019 Garnl3 GTPase activating Rap/RanGAP domain-like 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1564019 Garnl3 GTPase activating Rap/RanGAP domain-like 3 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346418 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1564019 Garnl3 GTPase activating Rap/RanGAP domain-like 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1564019 Garnl3 GTPase activating Rap/RanGAP domain-like 3 gene DOID:1059 intellectual disability ISO RGD:1346418 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 1564019 Garnl3 GTPase activating Rap/RanGAP domain-like 3 gene DOID:630 genetic disease ISO RGD:1346418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564024 Tmem200a transmembrane protein 200A gene DOID:630 genetic disease ISO RGD:1345256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564025 Eda2r ectodysplasin A2 receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344270 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564025 Eda2r ectodysplasin A2 receptor gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1344270 D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:22889853 1564025 Eda2r ectodysplasin A2 receptor gene DOID:12849 autistic disorder ISO RGD:1344270 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564025 Eda2r ectodysplasin A2 receptor gene DOID:630 genetic disease ISO RGD:1344270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564027 Amot angiomotin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344662 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564027 Amot angiomotin gene DOID:12849 autistic disorder ISO RGD:1344662 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564027 Amot angiomotin gene DOID:5419 schizophrenia ISO RGD:1344662 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564027 Amot angiomotin gene DOID:630 genetic disease ISO RGD:1344662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564027 Amot angiomotin gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344662 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1564027 Amot angiomotin gene DOID:9007502 Brain Neoplasms ISO RGD:1344662 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 1564030 Defb29 defensin beta 29 gene DOID:630 genetic disease ISO RGD:1344787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564036 Mrnip MRN complex interacting protein gene DOID:5408 Paget's disease of bone ISO RGD:1606005 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Bone Paget disease 1564036 Mrnip MRN complex interacting protein gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:1606005 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:25741868 1564036 Mrnip MRN complex interacting protein gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:1606005 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 1564038 Vgll1 vestigial-like family member 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564038 Vgll1 vestigial-like family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352400 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564038 Vgll1 vestigial-like family member 1 gene DOID:0060825 Christianson syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564038 Vgll1 vestigial-like family member 1 gene DOID:12849 autistic disorder ISO RGD:1352400 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564038 Vgll1 vestigial-like family member 1 gene DOID:630 genetic disease ISO RGD:1352400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564038 Vgll1 vestigial-like family member 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564038 Vgll1 vestigial-like family member 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564038 Vgll1 vestigial-like family member 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 1564042 Ttc33 tetratricopeptide repeat domain 33 gene DOID:630 genetic disease ISO RGD:1606815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564042 Ttc33 tetratricopeptide repeat domain 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606815 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564043 Susd4 sushi domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1605987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564043 Susd4 sushi domain containing 4 gene DOID:630 genetic disease ISO RGD:1605987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564043 Susd4 sushi domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605987 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564046 Ccdc38 coiled-coil domain containing 38 gene DOID:630 genetic disease ISO RGD:1603366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564048 Tmem74b transmembrane protein 74B gene DOID:630 genetic disease ISO RGD:1354046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564049 Sertad2 SERTA domain containing 2 gene DOID:630 genetic disease ISO RGD:1350169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564050 Lima1 LIM domain and actin binding 1 gene DOID:630 genetic disease ISO RGD:1602328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564053 RGD1564053 similar to hypothetical protein gene DOID:630 genetic disease ISO RGD:1605303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564056 Creg2 cellular repressor of E1A-stimulated genes 2 gene DOID:630 genetic disease ISO RGD:1350803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346347 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:0060825 Christianson syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:12849 autistic disorder ISO RGD:1346347 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:630 genetic disease ISO RGD:1346347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564057 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564058 Wdr83os WD repeat domain 83 opposite strand gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1564058 Wdr83os WD repeat domain 83 opposite strand gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1564058 Wdr83os WD repeat domain 83 opposite strand gene DOID:0111254 glutaric acidemia I ISO RGD:1605383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1564058 Wdr83os WD repeat domain 83 opposite strand gene DOID:3413 alpha-mannosidosis ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 1564058 Wdr83os WD repeat domain 83 opposite strand gene DOID:630 genetic disease ISO RGD:1605383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564059 Fmr1nb FMR1 neighbor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1564059 Fmr1nb FMR1 neighbor gene DOID:12849 autistic disorder ISO RGD:1346520 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564059 Fmr1nb FMR1 neighbor gene DOID:630 genetic disease ISO RGD:1346520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564061 Pramef8 PRAME family member 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1564063 Pm20d1 peptidase M20 domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1602433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1564063 Pm20d1 peptidase M20 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602433 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564063 Pm20d1 peptidase M20 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564063 Pm20d1 peptidase M20 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564063 Pm20d1 peptidase M20 domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1602433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1564063 Pm20d1 peptidase M20 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602433 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564073 Helt helt bHLH transcription factor gene DOID:630 genetic disease ISO RGD:2292703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564075 Slfnl1 schlafen-like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603541 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1564075 Slfnl1 schlafen-like 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 1564075 Slfnl1 schlafen-like 1 gene DOID:630 genetic disease ISO RGD:1603541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564076 Prkx protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1353983 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564076 Prkx protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:630 genetic disease ISO RGD:1353983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564076 Prkx protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353983 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564079 Prr18 proline rich 18 gene DOID:630 genetic disease ISO RGD:1601804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564080 Cdca7l cell division cycle associated 7 like gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1602109 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 1564080 Cdca7l cell division cycle associated 7 like gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:18022865|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 1564080 Cdca7l cell division cycle associated 7 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602109 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564080 Cdca7l cell division cycle associated 7 like gene DOID:630 genetic disease ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564080 Cdca7l cell division cycle associated 7 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602109 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25741868|PMID:26139845|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 1564081 Arhgap42 Rho GTPase activating protein 42 gene DOID:1059 intellectual disability ISO RGD:3500508 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564081 Arhgap42 Rho GTPase activating protein 42 gene DOID:12704 ataxia telangiectasia ISO RGD:3500508 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1564081 Arhgap42 Rho GTPase activating protein 42 gene DOID:630 genetic disease ISO RGD:3500508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564082 Vash1 vasohibin 1 gene DOID:1059 intellectual disability ISO RGD:1352548 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1564082 Vash1 vasohibin 1 gene DOID:10762 portal hypertension disease_progression IEP D RGD:15003198|PMID:24390792 20191107 RGD 1564082 Vash1 vasohibin 1 gene DOID:10762 portal hypertension treatment ISO RGD:1352548 D RGD:15003198|PMID:24390792 20191107 RGD 1564082 Vash1 vasohibin 1 gene DOID:5082 liver cirrhosis ISO RGD:1352548 D RGD:15003198|PMID:24390792 20191107 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver 1564082 Vash1 vasohibin 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:1352548 D RGD:15003198|PMID:24390792 20191107 RGD 1564082 Vash1 vasohibin 1 gene DOID:630 genetic disease ISO RGD:1352548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564084 Tipin timeless interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1564084 Tipin timeless interacting protein gene DOID:2717 Bloom syndrome ISO RGD:1606275 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564084 Tipin timeless interacting protein gene DOID:630 genetic disease ISO RGD:1606275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564084 Tipin timeless interacting protein gene DOID:9256 colorectal cancer ISO RGD:1606275 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:1788 peritoneal mesothelioma ISO RGD:1349703 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:2513 basal cell carcinoma ISO RGD:1349703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1349703 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:3069 malignant astrocytoma ISO RGD:1349703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:3070 high grade glioma ISO RGD:1349703 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:3307 teratoma ISO RGD:1349703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:630 genetic disease ISO RGD:1349703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1349703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 1564085 Lats1 large tumor suppressor kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1349703 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1564091 Greb1 growth regulating estrogen receptor binding 1 gene DOID:289 endometriosis ISO RGD:1605705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104006 1564091 Greb1 growth regulating estrogen receptor binding 1 gene DOID:5419 schizophrenia ISO RGD:1605705 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564091 Greb1 growth regulating estrogen receptor binding 1 gene DOID:630 genetic disease ISO RGD:1605705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564091 Greb1 growth regulating estrogen receptor binding 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16496412 1564093 Trir telomerase RNA component interacting RNase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1564093 Trir telomerase RNA component interacting RNase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1564093 Trir telomerase RNA component interacting RNase gene DOID:0111254 glutaric acidemia I ISO RGD:1604305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1564093 Trir telomerase RNA component interacting RNase gene DOID:3413 alpha-mannosidosis ISO RGD:1604305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1564099 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1564099 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:12849 autistic disorder ISO RGD:1604537 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564099 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:630 genetic disease ISO RGD:1604537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564099 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:8501 fundus dystrophy ISO RGD:1604537 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245|PMID:28492532 1564099 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:7240710 20171011 OMIM 1564099 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25741868|PMID:25983245|PMID:28492532 1564105 Vash2 vasohibin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602689 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564105 Vash2 vasohibin 2 gene DOID:630 genetic disease ISO RGD:1602689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564105 Vash2 vasohibin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602689 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564106 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601929 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564106 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564106 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601929 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1564106 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1601929 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1564106 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601929 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564108 Hhip Hedgehog-interacting protein gene DOID:10892 hypospadias ISO RGD:1354359 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31568847 1564108 Hhip Hedgehog-interacting protein gene DOID:12236 primary biliary cholangitis IEP D RGD:11552599|PMID:18375471 20161012 RGD mRNA:decreased expression: 1564108 Hhip Hedgehog-interacting protein gene DOID:2513 basal cell carcinoma ISO RGD:1557623 D RGD:11552592|PMID:15024045 20161012 RGD mRNA:increased expression:skin: 1564108 Hhip Hedgehog-interacting protein gene DOID:2513 basal cell carcinoma treatment ISO RGD:1557623 D RGD:11552592|PMID:15024045 20161012 RGD 1564108 Hhip Hedgehog-interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354359 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related 1564108 Hhip Hedgehog-interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:11552597|PMID:25928290 20161012 RGD DNA:SNPs: :rs11100865, rs7654947(human) 1564108 Hhip Hedgehog-interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:11552598|PMID:19996190 20161012 RGD DNA:SNP: :rs13118928(human) 1564108 Hhip Hedgehog-interacting protein gene DOID:5082 liver cirrhosis ISO RGD:1557623 D RGD:11552602|PMID:19815628 20161012 RGD mRNA:decreased expression:liver: 1564108 Hhip Hedgehog-interacting protein gene DOID:630 genetic disease ISO RGD:1354359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564108 Hhip Hedgehog-interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18559595 1564108 Hhip Hedgehog-interacting protein gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:11552601|PMID:19515211 20161012 RGD 1564108 Hhip Hedgehog-interacting protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354359 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 1564108 Hhip Hedgehog-interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354359 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1564108 Hhip Hedgehog-interacting protein gene DOID:9675 pulmonary emphysema ISO RGD:1557623 D RGD:11552596|PMID:25763110 20161012 RGD DNA:haplotype insufficiency: : 1564108 Hhip Hedgehog-interacting protein gene DOID:9743 diabetic neuropathy IEP D RGD:11552601|PMID:19515211 20161012 RGD 1564113 Mapkapk5 MAPK activated protein kinase 5 gene DOID:630 genetic disease ISO RGD:1354160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564113 Mapkapk5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:7240710 20220629 OMIM 1564113 Mapkapk5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurocardiofaciodigital syndrome PMID:25741868|PMID:33442026 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604151 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:0081097 Rafiq syndrome ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604151 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:3652 Leigh disease ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1564114 Cfap77 cilia and flagella associated protein 77 gene DOID:630 genetic disease ISO RGD:1604151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564116 Wdr35 WD repeat domain 35 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1315220 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 1564116 Wdr35 WD repeat domain 35 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315220 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1564116 Wdr35 WD repeat domain 35 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1315220 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 1564116 Wdr35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:11553909|PMID:22987818 20161017 RGD DNA:missense mutation:cds:p.L520P (human) 1564116 Wdr35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:7240710 20130221 OMIM 1564116 Wdr35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:16199547|PMID:17576681|PMID:20817137|PMID:21473986|PMID:22486404|PMID:22987818|PMID:24027799|PMID:24033266|PMID:24123776|PMID:25326635|PMID:25741868|PMID:25908617|PMID:25914204|PMID:26691894|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:28870638|PMID:29068549|PMID:33369054|PMID:33606107|PMID:9536098 1564116 Wdr35 WD repeat domain 35 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:7240710 20140911 OMIM 1564116 Wdr35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:17935248|PMID:21473986|PMID:22486404|PMID:24033266|PMID:25741868|PMID:25908617|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:25741868|PMID:28492532|PMID:28870638|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315220 D RGD:11073852|PMID:25908617 20161017 RGD DNA:snps:introns, cds:multiple (human) 1564116 Wdr35 WD repeat domain 35 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 1564116 Wdr35 WD repeat domain 35 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1315220 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:25741868|PMID:28492532 1564116 Wdr35 WD repeat domain 35 gene DOID:2340 craniosynostosis ISO RGD:1315220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20817137 1564116 Wdr35 WD repeat domain 35 gene DOID:5082 liver cirrhosis IEP D RGD:11553927|PMID:18472094 20161018 RGD mRNA:increased expression:liver (rat) 1564116 Wdr35 WD repeat domain 35 gene DOID:630 genetic disease ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24123776|PMID:25326635|PMID:25741868|PMID:28492532 1564116 Wdr35 WD repeat domain 35 gene DOID:65 connective tissue disease ISO RGD:1315220 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1315220 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28400947|PMID:29068549 1564116 Wdr35 WD repeat domain 35 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11553923|PMID:20224876 20161017 RGD mRNA:increased expression:kidney (rat) 1564117 Nhsl2 NHS-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603499 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564117 Nhsl2 NHS-like 2 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1603499 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 1564117 Nhsl2 NHS-like 2 gene DOID:12849 autistic disorder ISO RGD:1603499 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564117 Nhsl2 NHS-like 2 gene DOID:630 genetic disease ISO RGD:1603499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564120 Ccn6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:7240710 20130221 OMIM 1564120 Ccn6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia PMID:10471507|PMID:16152649|PMID:21528827|PMID:21993478|PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25738435|PMID:25741868|PMID:25794430|PMID:25988854|PMID:27291587|PMID:27436824|PMID:28210640|PMID:28492532|PMID:29092958|PMID:29258992|PMID:30408610|PMID:32382396|PMID:34008892 1564120 Ccn6 cellular communication network factor 6 gene DOID:381 arthropathy ISO RGD:1345324 D RGD:1599850|PMID:10471507 20070219 RGD PPAC, OMIM:208230 1564120 Ccn6 cellular communication network factor 6 gene DOID:4680 breast metaplastic carcinoma ISS RGD:1622848 D RGD:13592920 20180518 MouseDO 1564120 Ccn6 cellular communication network factor 6 gene DOID:630 genetic disease ISO RGD:1345324 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25741868|PMID:25988854|PMID:27436824 1564124 Ftx FTX transcript, XIST regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2312697 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564124 Ftx FTX transcript, XIST regulator gene DOID:12849 autistic disorder ISO RGD:2312697 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564128 Vit vitrin gene DOID:630 genetic disease ISO RGD:1353199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564130 Btaf1 B-TFIID TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1352187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564132 Rwdd4 RWD domain containing 4 gene DOID:630 genetic disease ISO RGD:1605847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564142 Wdfy4 WDFY family member 4 gene DOID:11372 megacolon ISO RGD:1350991 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1564142 Wdfy4 WDFY family member 4 gene DOID:12849 autistic disorder ISO RGD:1350991 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 1564142 Wdfy4 WDFY family member 4 gene DOID:5419 schizophrenia ISO RGD:1350991 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564142 Wdfy4 WDFY family member 4 gene DOID:630 genetic disease ISO RGD:1350991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564142 Wdfy4 WDFY family member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1350991 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 1564145 Lrrn1 leucine rich repeat neuronal 1 gene DOID:10534 stomach cancer severity ISO RGD:1345511 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 1564145 Lrrn1 leucine rich repeat neuronal 1 gene DOID:630 genetic disease ISO RGD:1345511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564145 Lrrn1 leucine rich repeat neuronal 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345511 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564146 Slc5a8 solute carrier family 5 member 8 gene DOID:1920 hyperuricemia ISO RGD:1352176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20589576 1564146 Slc5a8 solute carrier family 5 member 8 gene DOID:630 genetic disease ISO RGD:1352176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564146 Slc5a8 solute carrier family 5 member 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15090606|PMID:16670197 1564147 Garin1b golgi associated RAB2 interactor 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606759 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564147 Garin1b golgi associated RAB2 interactor 1B gene DOID:630 genetic disease ISO RGD:1606759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1351432 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:12849 autistic disorder ISO RGD:1351432 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:630 genetic disease ISO RGD:1351432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:9263 homocystinuria ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1564149 RGD1564149 similar to Protein C21orf58 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1564150 Zfp518b zinc finger protein 518B gene DOID:630 genetic disease ISO RGD:1604562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564153 Plekha1 pleckstrin homology domain containing A1 gene DOID:0080600 COVID-19 ISO RGD:1345011 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564153 Plekha1 pleckstrin homology domain containing A1 gene DOID:2340 craniosynostosis ISO RGD:1345011 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1564153 Plekha1 pleckstrin homology domain containing A1 gene DOID:630 genetic disease ISO RGD:1345011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564153 Plekha1 pleckstrin homology domain containing A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345011 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1347629 D RGD:4891931|PMID:17854592 20110121 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347629 D RGD:4891932|PMID:16938805 20110121 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2560 morphine dependence IEP D RGD:9831198|PMID:23684726 20150303 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15710598|PMID:15764725|PMID:16926187 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:4891921|PMID:15073379 20110121 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:4891922|PMID:18285428 20110121 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:4891923|PMID:17702965 20110121 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 PMID:15073379 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1347629 D RGD:7240710 20190502 OMIM 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347629 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:535 sleep disorder ISS RGD:1558020 D RGD:13592920 20220623 MouseDO 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:630 genetic disease ISO RGD:1347629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347629 D RGD:4891930|PMID:20179762 20110121 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:9000499 Alcoholic Intoxication IEP D RGD:9831199|PMID:19860802 20150303 RGD mRNA:increased expression:brain 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:9001109 Anorexia IMP D RGD:9835045|PMID:19821837 20150317 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:9831205|PMID:24884567 20150303 RGD 1564154 Npsr1 neuropeptide S receptor 1 gene DOID:9005632 Cocaine-Related Disorders treatment IMP D RGD:9831202|PMID:22982682 20150303 RGD 1564158 Itpripl1 ITPRIP like 1 gene DOID:10283 prostate cancer ISO RGD:1603562 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1564158 Itpripl1 ITPRIP like 1 gene DOID:1059 intellectual disability ISO RGD:1603562 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564158 Itpripl1 ITPRIP like 1 gene DOID:5419 schizophrenia ISO RGD:1603562 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564158 Itpripl1 ITPRIP like 1 gene DOID:630 genetic disease ISO RGD:1603562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564160 Slc37a2 solute carrier family 37 member 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1564160 Slc37a2 solute carrier family 37 member 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1313712 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1564160 Slc37a2 solute carrier family 37 member 2 gene DOID:5419 schizophrenia ISO RGD:1313712 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564160 Slc37a2 solute carrier family 37 member 2 gene DOID:630 genetic disease ISO RGD:1313712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564160 Slc37a2 solute carrier family 37 member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313712 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564160 Slc37a2 solute carrier family 37 member 2 gene DOID:9007661 Dwarfism ISO RGD:1313712 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FTDALS2 PMID:28492532 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1349066 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:1826 epilepsy ISO RGD:1349066 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:5419 schizophrenia ISO RGD:1349066 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:630 genetic disease ISO RGD:1349066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:9004598 Spinal Muscular Atrophy, Jokela Type ISO RGD:1349066 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:28492532 1564162 RGD1564162 similar to Homo sapiens fetal lung specific expression unknown gene DOID:9008878 MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:28492532 1564163 Fam229a family with sequence similarity 229, member A gene DOID:630 genetic disease ISO RGD:7204883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564164 Acbd7 acyl-CoA binding domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350250 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1564164 Acbd7 acyl-CoA binding domain containing 7 gene DOID:630 genetic disease ISO RGD:1350250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564165 Ccdc18 coiled-coil domain containing 18 gene DOID:630 genetic disease ISO RGD:1601798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564168 Cep112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:7240710 20201021 OMIM 1564168 Cep112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 44 PMID:31654588 1564168 Cep112 centrosomal protein 112 gene DOID:630 genetic disease ISO RGD:1604510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564169 Klhl38 kelch-like family member 38 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2300033 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1564169 Klhl38 kelch-like family member 38 gene DOID:630 genetic disease ISO RGD:2300033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564170 Gpr153 G protein-coupled receptor 153 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1564170 Gpr153 G protein-coupled receptor 153 gene DOID:5419 schizophrenia ISO RGD:1319513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1564170 Gpr153 G protein-coupled receptor 153 gene DOID:630 genetic disease ISO RGD:1319513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564170 Gpr153 G protein-coupled receptor 153 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319513 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564170 Gpr153 G protein-coupled receptor 153 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319513 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:1540 parathyroid carcinoma ISO RGD:1606869 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:5812 MHC class II deficiency ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1564171 Cfap141 cilia and flagella associated protein 141 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606869 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564174 Tns3 tensin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323398 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564174 Tns3 tensin 3 gene DOID:630 genetic disease ISO RGD:1323398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564175 Ms4a13-ps1 membrane spanning 4-domains A13, pseudogene 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1564175 Ms4a13-ps1 membrane spanning 4-domains A13, pseudogene 1 gene DOID:1059 intellectual disability ISO RGD:1606059 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564175 Ms4a13-ps1 membrane spanning 4-domains A13, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1606059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564177 Fam236d family with sequence similarity 236 member D gene DOID:12849 autistic disorder ISO RGD:11577340 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564178 Gdf3 growth differentiation factor 3 gene DOID:0060249 scoliosis ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:19864492|PMID:25741868|PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:7240710 20130221 OMIM 1564178 Gdf3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 7 PMID:19864492|PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345464 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:7240710 20130221 OMIM 1564178 Gdf3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:19864492|PMID:25741868|PMID:28492532|PMID:29735971 1564178 Gdf3 growth differentiation factor 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345464 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:630 genetic disease ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564178 Gdf3 growth differentiation factor 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1345464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 1564178 Gdf3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:7240710 20130221 OMIM 1564178 Gdf3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:19864492|PMID:24281366|PMID:25741868|PMID:28492532 1564178 Gdf3 growth differentiation factor 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345464 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1564182 Cecr2 CECR2, histone acetyl-lysine reader gene DOID:0060668 anencephaly ISS RGD:1557284 D RGD:13592920 20180518 MouseDO OMIM:206500 1564182 Cecr2 CECR2, histone acetyl-lysine reader gene DOID:0080074 neural tube defect ISO RGD:1350048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15640247 1564182 Cecr2 CECR2, histone acetyl-lysine reader gene DOID:0111996 immunodeficiency 51 ISO RGD:1350048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1564182 Cecr2 CECR2, histone acetyl-lysine reader gene DOID:12849 autistic disorder ISO RGD:1350048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 1564182 Cecr2 CECR2, histone acetyl-lysine reader gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350048 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564182 Cecr2 CECR2, histone acetyl-lysine reader gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1564186 Elmod1 ELMO domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349956 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564186 Elmod1 ELMO domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1349956 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1564186 Elmod1 ELMO domain containing 1 gene DOID:630 genetic disease ISO RGD:1349956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564186 Elmod1 ELMO domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349956 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564189 Dock2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:7240710 20170503 OMIM 1564189 Dock2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:16199547|PMID:17576681|PMID:25741868|PMID:26083206|PMID:28492532|PMID:29204803|PMID:9536098 1564189 Dock2 dedicator of cytokinesis 2 gene DOID:10283 prostate cancer ISO RGD:1323174 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1564189 Dock2 dedicator of cytokinesis 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1323174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 1564189 Dock2 dedicator of cytokinesis 2 gene DOID:630 genetic disease ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1564189 Dock2 dedicator of cytokinesis 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323174 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1564190 Tlx3 T-cell leukemia, homeobox 3 gene DOID:0060731 congenital central hypoventilation syndrome ISS RGD:1615148 D RGD:13592920 20180518 MouseDO OMIM:209880 1564190 Tlx3 T-cell leukemia, homeobox 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353737 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1564190 Tlx3 T-cell leukemia, homeobox 3 gene DOID:630 genetic disease ISO RGD:1353737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1602444 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1602444 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1602444 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:1602444 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:7240710 20130731 OMIM 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 PMID:11179027|PMID:11346027|PMID:12953268|PMID:18414213|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27172900|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29167286|PMID:29334453|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31722684|PMID:32346475|PMID:32392383|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9579893 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22101681 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:7240710 20151216 OMIM 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Familial paroxysmal dystonia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:11179027|PMID:11346027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19914906|PMID:20301633|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23436308|PMID:23456995|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24372385|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24811917|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25421402|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26629640|PMID:26742926|PMID:26867511|PMID:26935445|PMID:26936445|PMID:26944167|PMID:27123484|PMID:27172900|PMID:27173777|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29132464|PMID:29167286|PMID:29215089|PMID:29334453|PMID:29655203|PMID:29801903|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31154286|PMID:31302675|PMID:31589614|PMID:31722684|PMID:31901402|PMID:32346475|PMID:32392383|PMID:32651081|PMID:32906206|PMID:33126486|PMID:34041212|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9536098 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1602444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1602444 D RGD:8554872 20210316 ClinVar ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:12849 autistic disorder ISO RGD:1602444 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:31124310|PMID:34782754 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:1882 atrial heart septal defect ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602444 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532|PMID:28590052 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:5419 schizophrenia ISO RGD:1602444 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1602444 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23063574|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23363396|PMID:23436308|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25167861|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27123484|PMID:28074849|PMID:28492532|PMID:28525812|PMID:29334453|PMID:31124310|PMID:31193310|PMID:34782754 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602444 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1602444 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:7240710 20130731 OMIM 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24755245|PMID:24828792|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:26936445|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29334453|PMID:30980674|PMID:31124310|PMID:31722684|PMID:33126486|PMID:34782754 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9007956 Febrile Seizures ISO RGD:1602444 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Complex febrile seizures PMID:28492532 1564195 Prrt2 proline-rich transmembrane protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1602444 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344763 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:0060825 Christianson syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:7240710 20170315 OMIM 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 PMID:25470569|PMID:25806919|PMID:25806920|PMID:25806921|PMID:26792934|PMID:26815903|PMID:27245663|PMID:27498687|PMID:28492532|PMID:29389097 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:12849 autistic disorder ISO RGD:1344763 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1344763 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:630 genetic disease ISO RGD:1344763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1564196 Gpr101 G protein-coupled receptor 101 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 1564197 Lbx1 ladybird homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1606568 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:21681106 1564197 Lbx1 ladybird homeobox 1 gene DOID:630 genetic disease ISO RGD:1606568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564197 Lbx1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:7240710 20211006 OMIM 1564197 Lbx1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 PMID:30487221 1564197 Lbx1 ladybird homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19651985 1564200 Clvs1 clavesin 1 gene DOID:0050834 CHARGE syndrome ISO RGD:1602646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 1564200 Clvs1 clavesin 1 gene DOID:630 genetic disease ISO RGD:1602646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564206 Syde2 synapse defective Rho GTPase homolog 2 gene DOID:630 genetic disease ISO RGD:1602090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344764 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:5419 schizophrenia ISO RGD:1344764 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:630 genetic disease ISO RGD:1344764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16857760|PMID:17304052|PMID:17576681|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785|PMID:9536098 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:9000918 Disease Progression ISO RGD:1344764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344764 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:7240710 20130221 OMIM 1564209 Acad8 acyl-CoA dehydrogenase family, member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:21109224|PMID:23255084|PMID:24635911|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:9536098|PMID:9889013 1564211 Styk1 serine/threonine/tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:1348462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564213 Thnsl1 threonine synthase-like 1 gene DOID:630 genetic disease ISO RGD:1343746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564216 Myof myoferlin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1343142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 1564216 Myof myoferlin gene DOID:0080600 COVID-19 ISO RGD:1343142 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564216 Myof myoferlin gene DOID:630 genetic disease ISO RGD:1343142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564216 Myof myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:7240710 20210616 OMIM 1564216 Myof myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 7 PMID:32542751 1564227 Ankrd33b ankyrin repeat domain 33B gene DOID:630 genetic disease ISO RGD:2307384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0050952 spastic ataxia ISO RGD:1351904 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:7240710 20170301 OMIM 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V PMID:10094189|PMID:20852935|PMID:22976768|PMID:25741868|PMID:25818867|PMID:28492532|PMID:29979746|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9950362 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:7240710 20191106 OMIM 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:10094189|PMID:11068184|PMID:11153910|PMID:11286389|PMID:11668611|PMID:11793481|PMID:11836372|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:16151907|PMID:16199547|PMID:16447797|PMID:17576681|PMID:18218046|PMID:19046346|PMID:20040070|PMID:20138557|PMID:20852935|PMID:21204211|PMID:21685203|PMID:217121855|PMID:21712855|PMID:21910976|PMID:21937992|PMID:22002444|PMID:22908982|PMID:22976768|PMID:23084433|PMID:23100014|PMID:23380547|PMID:23430803|PMID:23661660|PMID:23667853|PMID:23840811|PMID:24314109|PMID:24347096|PMID:25256447|PMID:25466957|PMID:25520920|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818867|PMID:26075876|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28018442|PMID:28101780|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:28844463|PMID:29269699|PMID:29606097|PMID:29661560|PMID:29881562|PMID:29979746|PMID:30070758|PMID:30802506|PMID:30809705|PMID:30903511|PMID:31236806|PMID:31319225|PMID:31342580|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32014045|PMID:32056211|PMID:32578945|PMID:32883051|PMID:33246910|PMID:33747789|PMID:33763395|PMID:34396902|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9536098|PMID:9832037|PMID:9950362 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:1059 intellectual disability ISO RGD:1351904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:1059 intellectual disability ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20852935|PMID:24314109|PMID:25741868|PMID:26075876|PMID:26907177|PMID:28492532|PMID:29606097|PMID:29979746|PMID:9443878 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:10754 otitis media ISS RGD:1623263 D RGD:13592920 20180518 MouseDO OMIM:166760 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10094189|PMID:11068184|PMID:16151907|PMID:18218046|PMID:20040070|PMID:20852935|PMID:21204211|PMID:217121855|PMID:21712855|PMID:22976768|PMID:23084433|PMID:23667853|PMID:25256447|PMID:25520920|PMID:25741868|PMID:26907177|PMID:27590925|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:29661560|PMID:29979746|PMID:31413257|PMID:31536183|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9832037|PMID:9950362 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:7241012|PMID:4261742 20130221 RGD protein:decreased activity:skin fibroblast, liver (human) 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:7241016|PMID:11136549 20130222 RGD human protein in mouse model 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:7241018|PMID:11668611 20130220 RGD DNA:mutations:multiple (human) 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10094189|PMID:14984474|PMID:15300983|PMID:15933803|PMID:18218046|PMID:20852935|PMID:21204211|PMID:21937992|PMID:22976768|PMID:23380547|PMID:23430803|PMID:25741868|PMID:28492532|PMID:28751108|PMID:29979746|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9950362 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1623263 D RGD:7241013|PMID:10588735 20130222 RGD 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:420 hypertrichosis ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:10094189|PMID:11153910|PMID:14984474|PMID:16151907|PMID:25741868|PMID:26907177|PMID:28492532|PMID:30809705|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:630 genetic disease ISO RGD:1351904 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094189|PMID:12202988|PMID:16151907|PMID:18218046|PMID:21204211|PMID:21937992|PMID:24314109|PMID:24347096|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28844463|PMID:29269699|PMID:29979746|PMID:31342580|PMID:31969655|PMID:32056211|PMID:32883051|PMID:33747789|PMID:9443878|PMID:9832037 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1564228 Naglu N-acetyl-alpha-glucosaminidase gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:152995398|PMID:25720338 20220616 RGD protein:increased activity:brain: 1564232 Ephb2 Eph receptor B2 gene DOID:0060673 Peters anomaly ISO RGD:1605126 D RGD:8554872 20170221 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 1564232 Ephb2 Eph receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1605126 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564232 Ephb2 Eph receptor B2 gene DOID:10127 cerebral artery occlusion ameliorates ISO RGD:1617631 D RGD:127285624|PMID:18639535 20210623 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:10652 Alzheimer's disease ameliorates ISO RGD:1617631 D RGD:12859080|PMID:21113149 20210623 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:12365 malaria ISO RGD:1617631 D RGD:127285023|PMID:25784101 20210616 RGD mRNA:increased expression:liver 1564232 Ephb2 Eph receptor B2 gene DOID:1561 cognitive disorder ISO RGD:1605126 D RGD:127285026|PMID:23314923 20210616 RGD associated with human immunodeficiency virus infectious disease; mRNA:increased expression:Anterior cingulate 1564232 Ephb2 Eph receptor B2 gene DOID:3525 middle cerebral artery infarction IEP D RGD:1642069|PMID:16321245 20210624 RGD mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone 1564232 Ephb2 Eph receptor B2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1617631 D RGD:1642069|PMID:16321245 20210624 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:1617631 D RGD:127285023|PMID:25784101 20210616 RGD associated with malaria; 1564232 Ephb2 Eph receptor B2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605126 D RGD:127285026|PMID:23314923 20210616 RGD mRNA:decreased expression:Anterior cingulate 1564232 Ephb2 Eph receptor B2 gene DOID:630 genetic disease ISO RGD:1605126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564232 Ephb2 Eph receptor B2 gene DOID:8577 ulcerative colitis ameliorates IDA D RGD:127285641|PMID:33722292 20210624 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:127285804|PMID:12944508 20210630 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:9000039 Spinal Cord Injuries ameliorates IMP D RGD:127285659|PMID:33794069 20210625 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:127285658|PMID:32149862 20210625 RGD mRNA,protein:increased expression:dorsal root ganglion 1564232 Ephb2 Eph receptor B2 gene DOID:9001471 Anorectal Malformations IEP D RGD:127285623|PMID:19302865 20210623 RGD mRNA,protein:decreased expression:embryonic cloaca, urorectal septum 1564232 Ephb2 Eph receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1564232 Ephb2 Eph receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:7240710 20230517 OMIM 1564232 Ephb2 Eph receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility PMID:15300251|PMID:16155194|PMID:25741868|PMID:28492532 1564232 Ephb2 Eph receptor B2 gene DOID:9005834 Ependymomas ISO RGD:1605126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 1564232 Ephb2 Eph receptor B2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1605126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1564232 Ephb2 Eph receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:7240710 20230517 OMIM 1564232 Ephb2 Eph receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 PMID:30213874 1564232 Ephb2 Eph receptor B2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605126 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18682749 1564232 Ephb2 Eph receptor B2 gene DOID:9008452 Candidemia exacerbates ISO RGD:1617631 D RGD:127229905|PMID:33685996 20210602 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:9008820 Visceral Pain ameliorates ISO RGD:1617631 D RGD:127285657|PMID:33880135 20210625 RGD 1564232 Ephb2 Eph receptor B2 gene DOID:9778 irritable bowel syndrome IEP D RGD:127229906|PMID:31601124 20210602 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: 1564232 Ephb2 Eph receptor B2 gene DOID:9778 irritable bowel syndrome ameliorates IMP D RGD:127229906|PMID:31601124 20210602 RGD 1564237 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1564237 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1564237 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:7240710 20170503 OMIM 1564237 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D PMID:19304573|PMID:20026666|PMID:20124439|PMID:21478160|PMID:21816778|PMID:22239554|PMID:23806086|PMID:24088041|PMID:24614124|PMID:25387803|PMID:25741868|PMID:28492532|PMID:30352774|PMID:31153847|PMID:33223529 1564237 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1564237 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:630 genetic disease ISO RGD:1606107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564241 Zfp846 zinc finger protein 846 gene DOID:12849 autistic disorder ISO RGD:1605799 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564241 Zfp846 zinc finger protein 846 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868 1564241 Zfp846 zinc finger protein 846 gene DOID:630 genetic disease ISO RGD:1605799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1564241 Zfp846 zinc finger protein 846 gene DOID:9005153 DEGCAGS SYNDROME ISO RGD:1605799 D RGD:7240710 20211020 OMIM 1564241 Zfp846 zinc finger protein 846 gene DOID:9005153 DEGCAGS SYNDROME ISO RGD:1605799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEGCAGS syndrome PMID:25741868|PMID:33875846 1564245 Myl2 myosin light chain 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737270 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029 1564245 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30403391|PMID:30430732|PMID:31019283|PMID:31127036|PMID:32453731|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30430732|PMID:30847666|PMID:31019283|PMID:31127036|PMID:31513939|PMID:31737537|PMID:31980526|PMID:32453731|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 1564245 Myl2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241277 1564245 Myl2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:1580240|PMID:9535554 20150323 RGD DNA:missense mutations:exon:p.F18L, p.R58Q (human) 1564245 Myl2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:1580241|PMID:11748309 20150323 RGD DNA:missense mutations, splice-site mutation:exon, intron:multiple 1564245 Myl2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 1564245 Myl2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30403391|PMID:30430732|PMID:31019283|PMID:8673105|PMID:9535554 1564245 Myl2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 1564245 Myl2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:7240710 20130425 OMIM 1564245 Myl2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33673806|PMID:33731536|PMID:33891674|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33891674|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 1564245 Myl2 myosin light chain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 1564245 Myl2 myosin light chain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16751284|PMID:16837010|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21723297|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26497160|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:28991257|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31513939|PMID:31771554|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33548158|PMID:33673806|PMID:8673105|PMID:9535554|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 1564245 Myl2 myosin light chain 2 gene DOID:1682 congenital heart disease ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28492532 1564245 Myl2 myosin light chain 2 gene DOID:422 congenital structural myopathy ISO RGD:737270 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 1564245 Myl2 myosin light chain 2 gene DOID:6000 congestive heart failure ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:12404107|PMID:24033266|PMID:25741868|PMID:28492532 1564245 Myl2 myosin light chain 2 gene DOID:630 genetic disease ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11102452|PMID:12668451|PMID:14594949|PMID:25324513|PMID:25741868|PMID:28492532|PMID:9535554 1564245 Myl2 myosin light chain 2 gene DOID:9000543 Death ISO RGD:737270 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:08673105|PMID:10948063|PMID:11102452|PMID:12404107|PMID:12668451|PMID:14594949|PMID:16076902|PMID:16751284|PMID:17606808|PMID:21310275|PMID:21896538|PMID:24033266|PMID:25324513|PMID:25351510|PMID:25741868|PMID:26497160|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28492532|PMID:28771489|PMID:30706179|PMID:30847666|PMID:31513939|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:8673105|PMID:9724616 1564245 Myl2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:7240710 20210818 OMIM 1564245 Myl2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15483641|PMID:16837010|PMID:17576681|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22260945|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25324513|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27532257|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28855170|PMID:29447731|PMID:30291343|PMID:30847666|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:33337957|PMID:33558530|PMID:33662488|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982 1564245 Myl2 myosin light chain 2 gene DOID:9006030 Infant Death ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 1564245 Myl2 myosin light chain 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 1564249 Strip1 striatin interacting protein 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1564249 Strip1 striatin interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1352338 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564249 Strip1 striatin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564252 St6galnac5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1352256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564252 St6galnac5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1352256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860|PMID:17568789 1564253 FAM120C family with sequence similarity 120C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603035 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564253 FAM120C family with sequence similarity 120C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1603035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1564253 FAM120C family with sequence similarity 120C gene DOID:12849 autistic disorder ISO RGD:1603035 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564253 FAM120C family with sequence similarity 120C gene DOID:630 genetic disease ISO RGD:1603035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564255 Itpripl2 ITPRIP like 2 gene DOID:630 genetic disease ISO RGD:1604732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564256 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:1790 malignant mesothelioma ISO RGD:1342514 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 1564256 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:289 endometriosis ISO RGD:1342514 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 1564256 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:630 genetic disease ISO RGD:1342514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564256 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1342514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1564256 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564256 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:9002801 Recurrence ISO RGD:1342514 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22607768 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6767479 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0110994 Joubert syndrome 25 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0111934 immunodeficiency 38 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0111935 immunodeficiency 16 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:630 genetic disease ISO RGD:6767479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6767479 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564257 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1564259 Adgb androglobin gene DOID:14261 fragile X syndrome ISO RGD:1343309 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 1564259 Adgb androglobin gene DOID:630 genetic disease ISO RGD:1343309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564263 Oip5 Opa interacting protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1345771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564263 Oip5 Opa interacting protein 5 gene DOID:630 genetic disease ISO RGD:1345771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564263 Oip5 Opa interacting protein 5 gene DOID:9256 colorectal cancer ISO RGD:1345771 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564265 Ano5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299 1564265 Ano5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299|PMID:9536098 1564265 Ano5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:11570558|PMID:20096397 20161220 RGD DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human) 1564265 Ano5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:7240710 20131030 OMIM 1564265 Ano5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 PMID:17132147|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26838040|PMID:26886200|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31589614|PMID:32112655|PMID:32528171|PMID:33963534|PMID:34008892|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:0080000 muscular disease ISO RGD:1342534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney, Polycystic PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:0080600 COVID-19 ISO RGD:1342534 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564265 Ano5 anoctamin 5 gene DOID:0081329 glycogen storage disease I ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31353849 1564265 Ano5 anoctamin 5 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24843231|PMID:24889862|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:32367299|PMID:9536098|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:11066746|PMID:23606453 20161220 RGD DNA:mutations:exon, intron:multiple 1564265 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:11570558|PMID:20096397 20161220 RGD DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human) 1564265 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:11570561|PMID:22742934 20161220 RGD DNA:duplications, nonsense mutation, missense mutation:exon:multiple 1564265 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:7240710 20130731 OMIM 1564265 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:34008892|PMID:35563815|PMID:9536098|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1342534 D RGD:11570564|PMID:23055322 20161220 RGD DNA:missense mutations:exon:p.Y673C (c.2018A>G), p.R58W (c.172C>T) (human) 1564265 Ano5 anoctamin 5 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:11570556|PMID:23047743 20161220 RGD DNA:missense mutation:exon:p.T513I (c.1538C>T) (human) 1564265 Ano5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:11570566|PMID:15124103 20161220 RGD DNA:missense mutations:exon:p.C356R, p.C356G (human) 1564265 Ano5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:7240710 20130731 OMIM 1564265 Ano5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions PMID:15124103|PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24239059|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27447704|PMID:27541832|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28492532|PMID:28888072|PMID:29124309|PMID:29382405|PMID:29792937|PMID:30564623|PMID:30919934|PMID:31127727|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:33963534|PMID:34008892|PMID:3530687|PMID:35563815|PMID:5816667|PMID:9536098|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:1059 intellectual disability ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:25891276|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934 1564265 Ano5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655 1564265 Ano5 anoctamin 5 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32403337|PMID:32528171 1564265 Ano5 anoctamin 5 gene DOID:2749 glycogen storage disease Ia ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31353849 1564265 Ano5 anoctamin 5 gene DOID:423 myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 1564265 Ano5 anoctamin 5 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:28176803|PMID:28492532|PMID:31353849 1564265 Ano5 anoctamin 5 gene DOID:630 genetic disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23606453|PMID:25741868|PMID:28492532 1564265 Ano5 anoctamin 5 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1342534 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:28176803|PMID:28492532|PMID:31353849 1564265 Ano5 anoctamin 5 gene DOID:9884 muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 1564267 Tmc7 transmembrane channel-like 7 gene DOID:630 genetic disease ISO RGD:1344679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564271 Sertad3 SERTA domain containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1564271 Sertad3 SERTA domain containing 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1564271 Sertad3 SERTA domain containing 3 gene DOID:2340 craniosynostosis ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1564271 Sertad3 SERTA domain containing 3 gene DOID:630 genetic disease ISO RGD:1603398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564271 Sertad3 SERTA domain containing 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1564271 Sertad3 SERTA domain containing 3 gene DOID:9269 maple syrup urine disease ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1564272 Tarm1 T cell-interacting, activating receptor on myeloid cells 1 gene DOID:630 genetic disease ISO RGD:3399181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564281 Zdhhc11 zinc finger, DHHC-type containing 11 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1343630 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1564281 Zdhhc11 zinc finger, DHHC-type containing 11 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1343630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1564281 Zdhhc11 zinc finger, DHHC-type containing 11 gene DOID:630 genetic disease ISO RGD:1343630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564281 Zdhhc11 zinc finger, DHHC-type containing 11 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1343630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1564283 Ccdc60 coiled-coil domain containing 60 gene DOID:630 genetic disease ISO RGD:1602176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564286 Moxd2 monooxygenase, DBH-like 2 gene DOID:10763 hypertension ISO RGD:1558176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3814904 1564287 Osbpl3 oxysterol binding protein-like 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350234 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564287 Osbpl3 oxysterol binding protein-like 3 gene DOID:630 genetic disease ISO RGD:1350234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:0050902 medulloblastoma ISO RGD:1352337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352337 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:12849 autistic disorder ISO RGD:1352337 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:630 genetic disease ISO RGD:1352337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564289 Scml2 Scm polycomb group protein like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352337 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1342504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1342504 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome PMID:24033266 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0060366 Hennekam syndrome ISO RGD:1342504 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0060673 Peters anomaly ISO RGD:1342504 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0080205 CAKUT ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:7240710 20140911 OMIM 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 2 PMID:22469822|PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091 1564291 Fat4 FAT atypical cadherin 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:10907 microcephaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:1909 melanoma ISO RGD:1342504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 1564291 Fat4 FAT atypical cadherin 4 gene DOID:2975 cystic kidney disease ISO RGD:1342504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18604206 1564291 Fat4 FAT atypical cadherin 4 gene DOID:299 adenocarcinoma ISO RGD:1342504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1564291 Fat4 FAT atypical cadherin 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342504 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 1564291 Fat4 FAT atypical cadherin 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1342504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 1564291 Fat4 FAT atypical cadherin 4 gene DOID:630 genetic disease ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:7240710 20150701 OMIM 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1342504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1342504 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:25741868 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9006095 Ascites ISO RGD:1342504 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ascites PMID:25741868|PMID:28492532 1564291 Fat4 FAT atypical cadherin 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868|PMID:28492532 1564300 Pstk phosphoseryl-tRNA kinase gene DOID:2340 craniosynostosis ISO RGD:1350761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 1564300 Pstk phosphoseryl-tRNA kinase gene DOID:630 genetic disease ISO RGD:1350761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564302 Krtap14 keratin associated protein 14 gene DOID:630 genetic disease ISO RGD:1354302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:2298813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:0111367 Beukes hip dysplasia ISO RGD:2298813 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:25741868 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:1059 intellectual disability ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:10907 microcephaly ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:12849 autistic disorder ISO RGD:2298813 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:12930 dilated cardiomyopathy ISO RGD:2298813 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:1826 epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:2234 focal epilepsy ISO RGD:2298813 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:630 genetic disease ISO RGD:2298813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:9001793 Generalized Epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:2298813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:25741868 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:9003512 Developmental and Epileptic Encephalopathy 106 ISO RGD:2298813 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:9006534 Nervous System Malformations ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 1564308 Cfap96 cilia and flagella associated protein 96 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:2298813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1564311 Dpy19l2 dpy-19 like 2 gene DOID:0111156 spermatogenic failure 9 ISO RGD:1606928 D RGD:7240710 20140903 OMIM 1564311 Dpy19l2 dpy-19 like 2 gene DOID:0111156 spermatogenic failure 9 ISO RGD:1606928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 9 PMID:15533374|PMID:21397063|PMID:21397064|PMID:22627659|PMID:22653751|PMID:25741868|PMID:28492532|PMID:33108537 1564311 Dpy19l2 dpy-19 like 2 gene DOID:630 genetic disease ISO RGD:1606928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564315 Nipal2 NIPA-like domain containing 2 gene DOID:0111590 Cohen syndrome ISO RGD:1605636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1564315 Nipal2 NIPA-like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564315 Nipal2 NIPA-like domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1347158 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:1347158 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer ISO RGD:1347158 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1347158 D RGD:2306127|PMID:17903305 20090320 RGD DNA:SNPs 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1347158 D RGD:2306130|PMID:14664792 20090320 RGD 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1557852 D RGD:1582314|PMID:15567863 20090320 RGD 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1557852 D RGD:1582669|PMID:9069289 20061116 RGD 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:2394 ovarian cancer ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347158 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:630 genetic disease ISO RGD:1347158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:783 end stage renal disease ISO RGD:1347158 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347158 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16998812 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1557852 D RGD:2306128|PMID:17510407 20090320 RGD 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:1557852 D RGD:2306129|PMID:17389263 20090320 RGD 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347158 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:1347158 D RGD:2306126|PMID:17945237 20090320 RGD mRNA:increased expression:blood, mononuclear cell 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:7240710 20141015 OMIM 1564316 Msr1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606628 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606628 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606628 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606628 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:1059 intellectual disability ISO RGD:1606628 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:1606628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1564322 Cimap1b ciliary microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:1606628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564330 Pram1 PML-RARA regulated adaptor molecule 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1564330 Pram1 PML-RARA regulated adaptor molecule 1 gene DOID:12849 autistic disorder ISO RGD:1604582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564330 Pram1 PML-RARA regulated adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1604582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564335 Sybu syntabulin gene DOID:630 genetic disease ISO RGD:1604347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564337 Coa3 cytochrome C oxidase assembly factor 3 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1606307 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25604084 1564337 Coa3 cytochrome C oxidase assembly factor 3 gene DOID:630 genetic disease ISO RGD:1606307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564337 Coa3 cytochrome C oxidase assembly factor 3 gene DOID:9008434 Mitochondrial Complex IV Deficiency, Nuclear Type 14 ISO RGD:1606307 D RGD:7240710 20201111 OMIM 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1601971 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1601971 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1601971 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:630 genetic disease ISO RGD:1601971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564340 Fndc11 fibronectin type III domain containing 11 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 1564342 Nek10 NIMA-related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:7240710 20200318 OMIM 1564342 Nek10 NIMA-related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 PMID:25741868 1564342 Nek10 NIMA-related kinase 10 gene DOID:630 genetic disease ISO RGD:1350326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564345 Tex47 testis expressed 47 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603879 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564353 Nup62cl nucleoporin 62 C-terminal like gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1564353 Nup62cl nucleoporin 62 C-terminal like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606555 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564353 Nup62cl nucleoporin 62 C-terminal like gene DOID:12849 autistic disorder ISO RGD:1606555 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564353 Nup62cl nucleoporin 62 C-terminal like gene DOID:630 genetic disease ISO RGD:1606555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564356 Cers3 ceramide synthase 3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1319080 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1564356 Cers3 ceramide synthase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lamellar ichthyosis PMID:28875980|PMID:30578701|PMID:33492757 1564356 Cers3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:7240710 20140911 OMIM 1564356 Cers3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 PMID:23549421|PMID:23754960|PMID:25741868|PMID:28492532 1564356 Cers3 ceramide synthase 3 gene DOID:10283 prostate cancer ISO RGD:1319080 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1564356 Cers3 ceramide synthase 3 gene DOID:630 genetic disease ISO RGD:1319080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564356 Cers3 ceramide synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319080 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564357 Igsf23 immunoglobulin superfamily, member 23 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:5132191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1564357 Igsf23 immunoglobulin superfamily, member 23 gene DOID:630 genetic disease ISO RGD:5132191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:7240710 20200708 OMIM 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 2 PMID:21131976|PMID:24603435|PMID:25741868|PMID:28492532|PMID:34397304 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:303 substance-related disorder ISO RGD:1343756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:3910 lung adenocarcinoma ISO RGD:1343756 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:630 genetic disease ISO RGD:1343756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:9004538 Hearing Loss ISO RGD:1343756 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:9006205 Animal Disease Models ISO RGD:1343756 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1564358 Polr1d RNA polymerase I and III subunit D gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1343756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 1564359 Map4 microtubule-associated protein 4 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 1564359 Map4 microtubule-associated protein 4 gene DOID:630 genetic disease ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564359 Map4 microtubule-associated protein 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1564359 Map4 microtubule-associated protein 4 gene DOID:9004657 Weight Gain ISO RGD:1343248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1564360 Pax7 paired box 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604064 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1564360 Pax7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:7240710 20130221 OMIM 1564360 Pax7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 PMID:25741868|PMID:31092906|PMID:32214227 1564360 Pax7 paired box 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604064 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1564360 Pax7 paired box 7 gene DOID:630 genetic disease ISO RGD:1604064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564360 Pax7 paired box 7 gene DOID:9002481 Congenital Myopathy 19 ISO RGD:1604064 D RGD:7240710 20191016 OMIM 1564360 Pax7 paired box 7 gene DOID:9002481 Congenital Myopathy 19 ISO RGD:1604064 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis PMID:25741868|PMID:31092906|PMID:32214227 1564361 Slc35a5 solute carrier family 35, member A5 gene DOID:0080600 COVID-19 ISO RGD:1344135 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564361 Slc35a5 solute carrier family 35, member A5 gene DOID:630 genetic disease ISO RGD:1344135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564361 Slc35a5 solute carrier family 35, member A5 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344135 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 1564362 Lcn10 lipocalin 10 gene DOID:0050777 Joubert syndrome ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1564362 Lcn10 lipocalin 10 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347368 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:0081097 Rafiq syndrome ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1564362 Lcn10 lipocalin 10 gene DOID:3652 Leigh disease ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1564362 Lcn10 lipocalin 10 gene DOID:630 genetic disease ISO RGD:1347368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564362 Lcn10 lipocalin 10 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564365 Ugt3a2 UDP glycosyltransferase 3 family, polypeptide A2 gene DOID:630 genetic disease ISO RGD:1601933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564365 Ugt3a2 UDP glycosyltransferase 3 family, polypeptide A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601933 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564367 Ccnb3 cyclin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352366 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564367 Ccnb3 cyclin B3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1564367 Ccnb3 cyclin B3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1564367 Ccnb3 cyclin B3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1564367 Ccnb3 cyclin B3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1564367 Ccnb3 cyclin B3 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1352366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 1564367 Ccnb3 cyclin B3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1564367 Ccnb3 cyclin B3 gene DOID:12849 autistic disorder ISO RGD:1352366 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564367 Ccnb3 cyclin B3 gene DOID:3347 osteosarcoma ISO RGD:1352366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 1564367 Ccnb3 cyclin B3 gene DOID:630 genetic disease ISO RGD:1352366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564367 Ccnb3 cyclin B3 gene DOID:9007479 Habitual Abortions ISO RGD:1352366 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 1564371 Txlng taxilin gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347306 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564371 Txlng taxilin gamma gene DOID:12849 autistic disorder ISO RGD:1347306 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564371 Txlng taxilin gamma gene DOID:630 genetic disease ISO RGD:1347306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564371 Txlng taxilin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347306 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564376 Dok6 docking protein 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346452 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1564376 Dok6 docking protein 6 gene DOID:1059 intellectual disability ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1564376 Dok6 docking protein 6 gene DOID:630 genetic disease ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564376 Dok6 docking protein 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1564376 Dok6 docking protein 6 gene DOID:8445 intestinal volvulus ISO RGD:1346452 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1564376 Dok6 docking protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346452 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564376 Dok6 docking protein 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346452 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1564379 Tmem250 transmembrane protein 250 gene DOID:0050777 Joubert syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 1564379 Tmem250 transmembrane protein 250 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:0081097 Rafiq syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1564379 Tmem250 transmembrane protein 250 gene DOID:3652 Leigh disease ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1564379 Tmem250 transmembrane protein 250 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1564384 Stk31 serine threonine kinase 31 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606534 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564384 Stk31 serine threonine kinase 31 gene DOID:630 genetic disease ISO RGD:1606534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:0050671 female breast cancer onset ISO RGD:1319653 D RGD:153323296|PMID:15867340 20220811 RGD 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1319652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1319652 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319652 D RGD:153323298|PMID:24936140 20220811 RGD DNA:hypermethylation: (human) 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1319652 D RGD:153323295|PMID:31573955 20220811 RGD human cells in a mouse model 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564385 Fes FES proto-oncogene, tyrosine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1319652 D RGD:153323297|PMID:31038805 20220811 RGD DNA:hypermethylation:promoter (human) 1564387 Fam78b family with sequence similarity 78, member B gene DOID:1540 parathyroid carcinoma ISO RGD:1604229 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564387 Fam78b family with sequence similarity 78, member B gene DOID:630 genetic disease ISO RGD:1604229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564387 Fam78b family with sequence similarity 78, member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604229 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:13580 cholestasis ISO RGD:1351041 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:225 syndrome ISS RGD:1316406 D RGD:13592920 20181011 MouseDO 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:630 genetic disease ISO RGD:1351041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:7240710 20190424 OMIM 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis PMID:25741868|PMID:29878199|PMID:30082715 1564388 Slc10a7 solute carrier family 10, member 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351041 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1564393 Garin2 golgi associated RAB2 interactor family member 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1353197 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 1564393 Garin2 golgi associated RAB2 interactor family member 2 gene DOID:630 genetic disease ISO RGD:1353197 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564395 Plekha6 pleckstrin homology domain containing A6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1564395 Plekha6 pleckstrin homology domain containing A6 gene DOID:12849 autistic disorder ISO RGD:1353676 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564395 Plekha6 pleckstrin homology domain containing A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353676 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564395 Plekha6 pleckstrin homology domain containing A6 gene DOID:630 genetic disease ISO RGD:1353676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564395 Plekha6 pleckstrin homology domain containing A6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353676 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1564395 Plekha6 pleckstrin homology domain containing A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353676 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564396 Zfp12 zinc finger protein 12 gene DOID:630 genetic disease ISO RGD:1349914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564397 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605906 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564397 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:7240710 20190626 OMIM 1564397 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paganini-Miozzo syndrome PMID:25741868|PMID:28492532|PMID:30471091 1564397 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605906 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564397 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1605906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1564399 Diaph2 diaphanous-related formin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346222 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564399 Diaph2 diaphanous-related formin 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1346222 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 1564399 Diaph2 diaphanous-related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:7240710 20130425 OMIM 1564399 Diaph2 diaphanous-related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2A PMID:25741868|PMID:28492532 1564399 Diaph2 diaphanous-related formin 2 gene DOID:12849 autistic disorder ISO RGD:1346222 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564399 Diaph2 diaphanous-related formin 2 gene DOID:13938 amenorrhea ISO RGD:1346222 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1564399 Diaph2 diaphanous-related formin 2 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1346222 D RGD:1601071|PMID:9070928 20070405 RGD DNA:translocation:intron:t(X;12)(q21;p1.3) 1564399 Diaph2 diaphanous-related formin 2 gene DOID:630 genetic disease ISO RGD:1346222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1343012 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343012 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343012 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1343012 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1343012 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:7240710 20140911 OMIM 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P PMID:14985381|PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26392352|PMID:26752306|PMID:26900582|PMID:27164712|PMID:27462242|PMID:27615052|PMID:27686364|PMID:28286897|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29341362|PMID:29417091|PMID:29845787|PMID:3022865|PMID:30996334|PMID:31852984|PMID:32376792|PMID:33414056|PMID:33568173|PMID:9536098 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343012 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:20865121 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26752306|PMID:28286897|PMID:28335037|PMID:28492532|PMID:29417091|PMID:29845787|PMID:32376792|PMID:33414056|PMID:9536098 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:630 genetic disease ISO RGD:1343012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20865121|PMID:22012984|PMID:25741868|PMID:26392352|PMID:26752306|PMID:27462242|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29417091|PMID:30996334|PMID:32376792|PMID:33414056|PMID:9536098 1564403 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1343012 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:22781092|PMID:27686364 1564407 Hmgb3 high mobility group box 3 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1350742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 1564407 Hmgb3 high mobility group box 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1564407 Hmgb3 high mobility group box 3 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1350742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 1564407 Hmgb3 high mobility group box 3 gene DOID:0111811 syndromic microphthalmia 13 ISO RGD:1350742 D RGD:7240710 20140903 OMIM 1564407 Hmgb3 high mobility group box 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350742 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 1564407 Hmgb3 high mobility group box 3 gene DOID:12849 autistic disorder ISO RGD:1350742 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564407 Hmgb3 high mobility group box 3 gene DOID:630 genetic disease ISO RGD:1350742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564412 Rnf183 ring finger protein 183 gene DOID:630 genetic disease ISO RGD:1603182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564413 Defb26 defensin beta 26 gene DOID:630 genetic disease ISO RGD:1342634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564414 Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1564414 Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:630 genetic disease ISO RGD:1602712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564419 Hoxa11-as HOXA11 antisense RNA gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2300356 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564419 Hoxa11-as HOXA11 antisense RNA gene DOID:6000 congestive heart failure ISO RGD:2300356 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1564419 Hoxa11-as HOXA11 antisense RNA gene DOID:6000 congestive heart failure ISO RGD:2300356 D RGD:243048444|PMID:27317124 20230331 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) 1564420 Washc5 WASH complex subunit 5 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1605096 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism 1564420 Washc5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:7240710 20181010 OMIM 1564420 Washc5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:24065355|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:31971710|PMID:7604842 1564420 Washc5 WASH complex subunit 5 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1605096 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 1564420 Washc5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:7240710 20151216 OMIM 1564420 Washc5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:10797436|PMID:16199547|PMID:17160902|PMID:17576681|PMID:20301727|PMID:20833645|PMID:23455931|PMID:23881105|PMID:24065355|PMID:24123792|PMID:24451228|PMID:24759409|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:30564185|PMID:30778698|PMID:30896870|PMID:31227335|PMID:31814071|PMID:9536098 1564420 Washc5 WASH complex subunit 5 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605096 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1564420 Washc5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17160902|PMID:25741868|PMID:26467025|PMID:28492532 1564420 Washc5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17160902|PMID:20301727|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:30896870|PMID:31227335 1564420 Washc5 WASH complex subunit 5 gene DOID:607 paraplegia ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 1564420 Washc5 WASH complex subunit 5 gene DOID:630 genetic disease ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30564185|PMID:31814071 1564420 Washc5 WASH complex subunit 5 gene DOID:9005532 Muscle Weakness ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 1564420 Washc5 WASH complex subunit 5 gene DOID:9007428 Muscle Spasticity ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:17576681|PMID:28492532|PMID:9536098 1564431 Alpk2 alpha-kinase 2 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1343226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 1564431 Alpk2 alpha-kinase 2 gene DOID:0111988 immunodeficiency 12 ISO RGD:1343226 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 1564431 Alpk2 alpha-kinase 2 gene DOID:630 genetic disease ISO RGD:1343226 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564436 Glb1l2 galactosidase, beta 1-like 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606483 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1564436 Glb1l2 galactosidase, beta 1-like 2 gene DOID:5419 schizophrenia ISO RGD:1606483 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564436 Glb1l2 galactosidase, beta 1-like 2 gene DOID:630 genetic disease ISO RGD:1606483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564436 Glb1l2 galactosidase, beta 1-like 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606483 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564437 Foxr2 forkhead box R2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352257 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564437 Foxr2 forkhead box R2 gene DOID:12849 autistic disorder ISO RGD:1352257 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564437 Foxr2 forkhead box R2 gene DOID:630 genetic disease ISO RGD:1352257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564437 Foxr2 forkhead box R2 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1352257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685747 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0050777 Joubert syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 5 PMID:17301727|PMID:25741868|PMID:25774885 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1605184 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111910 spermatogenic failure ISO RGD:1605184 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:20506135|PMID:28492532|PMID:28718531 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 32 PMID:20506135|PMID:28492532|PMID:28718531 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:1924 hypogonadism ISO RGD:1605184 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism PMID:17301727|PMID:25741868|PMID:25774885 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:3652 Leigh disease ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605184 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1605184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564440 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1564442 Gltp glycolipid transfer protein gene DOID:630 genetic disease ISO RGD:1602720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564444 Layn layilin gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1564444 Layn layilin gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1564444 Layn layilin gene DOID:1059 intellectual disability ISO RGD:1604525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564444 Layn layilin gene DOID:12704 ataxia telangiectasia ISO RGD:1604525 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1564444 Layn layilin gene DOID:630 genetic disease ISO RGD:1604525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564444 Layn layilin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604525 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564444 Layn layilin gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1564450 Smim29 small integral membrane protein 29 gene DOID:0050553 JMP syndrome ISO RGD:1605841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1564451 Trib2 tribbles pseudokinase 2 gene DOID:5419 schizophrenia ISO RGD:1351441 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564451 Trib2 tribbles pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1351441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564454 Tmem167b transmembrane protein 167B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1564454 Tmem167b transmembrane protein 167B gene DOID:12849 autistic disorder ISO RGD:1604335 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564456 Tasor2 transcription activation suppressor family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343867 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1564456 Tasor2 transcription activation suppressor family member 2 gene DOID:5419 schizophrenia ISO RGD:1343867 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564456 Tasor2 transcription activation suppressor family member 2 gene DOID:630 genetic disease ISO RGD:1343867 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564459 Ccdc136 coiled-coil domain containing 136 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604321 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564459 Ccdc136 coiled-coil domain containing 136 gene DOID:630 genetic disease ISO RGD:1604321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564460 Tlr11 toll-like receptor 11 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1614895 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 1564466 Bex1 brain expressed X-linked 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343764 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564466 Bex1 brain expressed X-linked 1 gene DOID:12849 autistic disorder ISO RGD:1343764 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564466 Bex1 brain expressed X-linked 1 gene DOID:630 genetic disease ISO RGD:1343764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564481 Atp11c ATPase phospholipid transporting 11C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351598 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564481 Atp11c ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:7240710 20190315 OMIM 1564481 Atp11c ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: X-linked congenital hemolytic anemia PMID:25741868|PMID:26944472 1564481 Atp11c ATPase phospholipid transporting 11C gene DOID:12259 hemophilia B ISO RGD:1351598 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 1564481 Atp11c ATPase phospholipid transporting 11C gene DOID:12849 autistic disorder ISO RGD:1351598 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564481 Atp11c ATPase phospholipid transporting 11C gene DOID:630 genetic disease ISO RGD:1351598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1564485 Vps35l VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:7240710 20210113 OMIM 1564485 Vps35l VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 PMID:31712251 1564487 Tulp4 TUB like protein 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1564487 Tulp4 TUB like protein 4 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1564487 Tulp4 TUB like protein 4 gene DOID:630 genetic disease ISO RGD:1350994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564488 Lrrc74a leucine rich repeat containing 74A gene DOID:1059 intellectual disability ISO RGD:1351641 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1564488 Lrrc74a leucine rich repeat containing 74A gene DOID:630 genetic disease ISO RGD:1351641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564490 Coro1c coronin 1C gene DOID:2986 IgA glomerulonephritis ISO RGD:1314425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1564490 Coro1c coronin 1C gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 1564490 Coro1c coronin 1C gene DOID:630 genetic disease ISO RGD:1314425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564491 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:2300034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1564491 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:2300034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1564491 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:0111546 Currarino syndrome ISO RGD:2300034 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1564491 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:630 genetic disease ISO RGD:2300034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564494 Cul4b cullin 4B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342683 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564494 Cul4b cullin 4B gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1342683 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:25741868 1564494 Cul4b cullin 4B gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1342683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1564494 Cul4b cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:7240710 20220427 OMIM 1564494 Cul4b cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked PMID:10978355|PMID:17236139|PMID:17273978|PMID:18414213|PMID:25385192|PMID:25741868|PMID:26467025|PMID:28330790|PMID:28492532|PMID:28817236|PMID:8135271 1564494 Cul4b cullin 4B gene DOID:1059 intellectual disability ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:17236139|PMID:17273978|PMID:25741868|PMID:28492532|PMID:8135271 1564494 Cul4b cullin 4B gene DOID:1059 intellectual disability ISS RGD:1557902 D RGD:13592920 20180518 MouseDO 1564494 Cul4b cullin 4B gene DOID:12849 autistic disorder ISO RGD:1342683 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564494 Cul4b cullin 4B gene DOID:1826 epilepsy ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 1564494 Cul4b cullin 4B gene DOID:630 genetic disease ISO RGD:1342683 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21554755|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532 1564494 Cul4b cullin 4B gene DOID:9007661 Dwarfism ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 1564494 Cul4b cullin 4B gene DOID:9008086 Developmental Disabilities ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 1564499 Stam signal transducing adaptor molecule gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320313 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1564499 Stam signal transducing adaptor molecule gene DOID:630 genetic disease ISO RGD:1320313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564499 Stam signal transducing adaptor molecule gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 1564500 Plscr5 phospholipid scramblase family, member 5 gene DOID:630 genetic disease ISO RGD:1349492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:0060041 autism spectrum disorder ISO RGD:1605828 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605828 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:0080600 COVID-19 ISO RGD:1605828 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605828 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:12849 autistic disorder ISO RGD:1605828 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:1882 atrial heart septal defect ISO RGD:1605828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:5419 schizophrenia ISO RGD:1605828 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:630 genetic disease ISO RGD:1605828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605828 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564503 C1h16orf54 similar to human chromosome 16 open reading frame 54 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605828 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1564504 Sqor sulfide quinone oxidoreductase gene DOID:0080600 COVID-19 ISO RGD:1353757 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564504 Sqor sulfide quinone oxidoreductase gene DOID:2717 Bloom syndrome ISO RGD:1353757 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564504 Sqor sulfide quinone oxidoreductase gene DOID:630 genetic disease ISO RGD:1353757 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564504 Sqor sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:7240710 20210421 OMIM 1564504 Sqor sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY PMID:32160317 1564504 Sqor sulfide quinone oxidoreductase gene DOID:9256 colorectal cancer ISO RGD:1353757 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564505 Angptl3 angiopoietin-like 3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1346260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:24814191|PMID:28492532 1564505 Angptl3 angiopoietin-like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:7240710 20130221 OMIM 1564505 Angptl3 angiopoietin-like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:28492532|PMID:32041611 1564505 Angptl3 angiopoietin-like 3 gene DOID:1059 intellectual disability ISO RGD:1346260 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1564505 Angptl3 angiopoietin-like 3 gene DOID:630 genetic disease ISO RGD:1346260 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32041611 1564505 Angptl3 angiopoietin-like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564505 Angptl3 angiopoietin-like 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1557682 D RGD:2314234|PMID:15094378 20091106 RGD protein:increased expression:liver 1564505 Angptl3 angiopoietin-like 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1557682 D RGD:1578347|PMID:12672813 19990101 RGD 1564505 Angptl3 angiopoietin-like 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557682 D RGD:2314234|PMID:15094378 20091106 RGD protein:increased expression:liver 1564507 Nckap5 NCK-associated protein 5 gene DOID:13938 amenorrhea ISO RGD:1625092 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1564507 Nckap5 NCK-associated protein 5 gene DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170324 RGD 1564507 Nckap5 NCK-associated protein 5 gene DOID:630 genetic disease ISO RGD:1625092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564508 Micb MHC class I polypeptide-related sequence B gene DOID:0050553 JMP syndrome ISO RGD:1354237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1564508 Micb MHC class I polypeptide-related sequence B gene DOID:11372 megacolon ISO RGD:1354237 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1564508 Micb MHC class I polypeptide-related sequence B gene DOID:12206 dengue hemorrhagic fever ISO RGD:1354237 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 1564508 Micb MHC class I polypeptide-related sequence B gene DOID:630 genetic disease ISO RGD:1354237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564516 Timd4 T-cell immunoglobulin and mucin domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1353666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 1564516 Timd4 T-cell immunoglobulin and mucin domain containing 4 gene DOID:5119 ovarian cyst ISO RGD:1353666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1564516 Timd4 T-cell immunoglobulin and mucin domain containing 4 gene DOID:630 genetic disease ISO RGD:1353666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564516 Timd4 T-cell immunoglobulin and mucin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1353666 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1564516 Timd4 T-cell immunoglobulin and mucin domain containing 4 gene DOID:9074 systemic lupus erythematosus ISS RGD:1557669 D RGD:13592920 20190502 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1564523 Spata25 spermatogenesis associated 25 gene DOID:0080540 galactosialidosis ISO RGD:1351206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 1564523 Spata25 spermatogenesis associated 25 gene DOID:2234 focal epilepsy ISO RGD:1351206 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1564523 Spata25 spermatogenesis associated 25 gene DOID:630 genetic disease ISO RGD:1351206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564523 Spata25 spermatogenesis associated 25 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1564525 Mxd1 max dimerization protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1353608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 1564525 Mxd1 max dimerization protein 1 gene DOID:630 genetic disease ISO RGD:1353608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564527 Ptchd1 patched domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352131 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 1564527 Ptchd1 patched domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352131 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 1564527 Ptchd1 patched domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352131 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1564527 Ptchd1 patched domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352131 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564527 Ptchd1 patched domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352131 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20844286 1564527 Ptchd1 patched domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352131 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1564527 Ptchd1 patched domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:1615725 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 1564527 Ptchd1 patched domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1352131 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21091464 1564527 Ptchd1 patched domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:20844286|PMID:21114665|PMID:21681106|PMID:23871722|PMID:25131214|PMID:25741868|PMID:26539891|PMID:30208311 1564527 Ptchd1 patched domain containing 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352131 D RGD:7240710 20190502 OMIM 1564527 Ptchd1 patched domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1352131 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1564527 Ptchd1 patched domain containing 1 gene DOID:630 genetic disease ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20844286|PMID:21114665|PMID:23871722|PMID:25741868|PMID:25782667|PMID:27007844|PMID:28492532|PMID:29118110|PMID:30166346 1564527 Ptchd1 patched domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352131 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564527 Ptchd1 patched domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1352131 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21091464 1564527 Ptchd1 patched domain containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1564528 Prr16 proline rich 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564528 Prr16 proline rich 16 gene DOID:630 genetic disease ISO RGD:1602486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564528 Prr16 proline rich 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602486 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564528 Prr16 proline rich 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564529 Nutm1 NUT midline carcinoma, family member 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1605553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 1564529 Nutm1 NUT midline carcinoma, family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1605553 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564529 Nutm1 NUT midline carcinoma, family member 1 gene DOID:630 genetic disease ISO RGD:1605553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564529 Nutm1 NUT midline carcinoma, family member 1 gene DOID:9256 colorectal cancer ISO RGD:1605553 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1344610 D RGD:7175555|PMID:19878917 20121211 RGD DNA:mutations:multiple (human) 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma PMID:21285946|PMID:24452206|PMID:25285920|PMID:25741868|PMID:28492532|PMID:28587736 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 ISO RGD:1344610 D RGD:7240710 20170329 OMIM 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:7240710 20200826 OMIM 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 PMID:22405088|PMID:24452206|PMID:25741868|PMID:27273692|PMID:28492532|PMID:28587736 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:10024 migraine with aura ISO RGD:1344610 D RGD:7175557|PMID:22162417 20121212 RGD DNA:snp:intron:g.36670T>C rs7217270 (human) 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:224 transient cerebral ischemia ISO RGD:1557695 D RGD:7175554|PMID:22284622 20121211 RGD 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:2723 dermatitis IAGP D RGD:150520053|PMID:16858425 20211025 RGD DNA:missense mutation:cds:G1717T (rat) 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:3310 atopic dermatitis ISS RGD:1557695 D RGD:13592920 20180518 MouseDO OMIM:603165 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:3613 Canavan disease ISO RGD:1344610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:5419 schizophrenia ISO RGD:1344610 D RGD:7175558|PMID:21970977 20121211 RGD DNA:snps:intron:g.109277T>C, g.110078T>C (rs10162727, rs1035706) (human) 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:630 genetic disease ISO RGD:1344610 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:8881 rosacea ISO RGD:1344610 D RGD:7175556|PMID:22189789 20121211 RGD Erythematotelangiectatic Rosacea, Phymatous Rosacea; protein:increased expression:dermis (human) 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:9002221 Hyperplasia ISO RGD:1344610 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:32535744 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1344610 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1344610 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:9256 colorectal cancer ISO RGD:1344610 D RGD:7183081|PMID:20042636 20121212 RGD DNA:snp:exon:c.558A>C rs11078458 (human) 1564531 Trpv3 transient receptor potential cation channel, subfamily V, member 3 gene DOID:987 alopecia IAGP D RGD:150520053|PMID:16858425 20211025 RGD DNA:missense mutation:cds:G1717T (rat) 1564535 Rnf224 ring finger protein 224 gene DOID:0050777 Joubert syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564535 Rnf224 ring finger protein 224 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1564535 Rnf224 ring finger protein 224 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:5132816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1564535 Rnf224 ring finger protein 224 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564535 Rnf224 ring finger protein 224 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:5132816 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1564535 Rnf224 ring finger protein 224 gene DOID:0081097 Rafiq syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1564535 Rnf224 ring finger protein 224 gene DOID:1826 epilepsy ISO RGD:5132816 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1564535 Rnf224 ring finger protein 224 gene DOID:630 genetic disease ISO RGD:5132816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564535 Rnf224 ring finger protein 224 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1564538 Ccdc110 coiled-coil domain containing 110 gene DOID:12849 autistic disorder ISO RGD:1606416 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564538 Ccdc110 coiled-coil domain containing 110 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606416 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1564538 Ccdc110 coiled-coil domain containing 110 gene DOID:630 genetic disease ISO RGD:1606416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564538 Ccdc110 coiled-coil domain containing 110 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1606416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1564541 Steep1 STING1 ER exit protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603201 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564541 Steep1 STING1 ER exit protein 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1564541 Steep1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:7240710 20190315 OMIM 1564541 Steep1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 PMID:25741868|PMID:29374277 1564541 Steep1 STING1 ER exit protein 1 gene DOID:12849 autistic disorder ISO RGD:1603201 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564542 Cntd1 cyclin N-terminal domain containing 1 gene DOID:630 genetic disease ISO RGD:1603365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564543 Chmp4c charged multivesicular body protein 4C gene DOID:630 genetic disease ISO RGD:1606751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564543 Chmp4c charged multivesicular body protein 4C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606751 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:23535730|PMID:31043753 1564546 Idnk Idnk, gluconokinase gene DOID:630 genetic disease ISO RGD:1347065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564549 Tmem160 transmembrane protein 160 gene DOID:630 genetic disease ISO RGD:1606276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564553 Cd84 CD84 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1349028 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1564553 Cd84 CD84 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1564553 Cd84 CD84 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1349028 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564553 Cd84 CD84 molecule gene DOID:630 genetic disease ISO RGD:1349028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564553 Cd84 CD84 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1349028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1564553 Cd84 CD84 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349028 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606730 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1606730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564557 Dcst2 DC-STAMP domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606730 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0080690 RASopathy ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349712 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349712 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1564560 Ddx6 DEAD-box helicase 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1564560 Ddx6 DEAD-box helicase 6 gene DOID:3307 teratoma ISO RGD:1349712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1564560 Ddx6 DEAD-box helicase 6 gene DOID:630 genetic disease ISO RGD:1349712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564560 Ddx6 DEAD-box helicase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1349712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 1564560 Ddx6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:7240710 20200115 OMIM 1564560 Ddx6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies PMID:25741868|PMID:31422817 1564560 Ddx6 DEAD-box helicase 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349712 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564560 Ddx6 DEAD-box helicase 6 gene DOID:9007661 Dwarfism ISO RGD:1349712 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1564562 Apip APAF1 interacting protein gene DOID:1059 intellectual disability ISO RGD:1603043 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564562 Apip APAF1 interacting protein gene DOID:630 genetic disease ISO RGD:1603043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564562 Apip APAF1 interacting protein gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1603043 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency 1564565 Med24 mediator complex subunit 24 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1564565 Med24 mediator complex subunit 24 gene DOID:630 genetic disease ISO RGD:1348876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564565 Med24 mediator complex subunit 24 gene DOID:9007661 Dwarfism ISO RGD:1348876 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1564567 Cfap99 cilia and flagella associated protein 99 gene DOID:630 genetic disease ISO RGD:8695362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564570 Gimap8 GTPase, IMAP family member 8 gene DOID:2843 long QT syndrome ISO RGD:1344762 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1564570 Gimap8 GTPase, IMAP family member 8 gene DOID:630 genetic disease ISO RGD:1344762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564575 Tmem89 transmembrane protein 89 gene DOID:630 genetic disease ISO RGD:1606359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564575 Tmem89 transmembrane protein 89 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606359 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1564575 Tmem89 transmembrane protein 89 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1564579 Ypel3 yippee-like 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 1564579 Ypel3 yippee-like 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1347620 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1564579 Ypel3 yippee-like 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1347620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1564579 Ypel3 yippee-like 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1347620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1564579 Ypel3 yippee-like 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1564579 Ypel3 yippee-like 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1347620 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1564579 Ypel3 yippee-like 3 gene DOID:12849 autistic disorder ISO RGD:1347620 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564579 Ypel3 yippee-like 3 gene DOID:1882 atrial heart septal defect ISO RGD:1347620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1564579 Ypel3 yippee-like 3 gene DOID:5419 schizophrenia ISO RGD:1347620 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564579 Ypel3 yippee-like 3 gene DOID:630 genetic disease ISO RGD:1347620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564579 Ypel3 yippee-like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564579 Ypel3 yippee-like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347620 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564579 Ypel3 yippee-like 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1564579 Ypel3 yippee-like 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1347620 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1564582 Mix23 mitochondrial matrix import factor 23 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1564582 Mix23 mitochondrial matrix import factor 23 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604240 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1564582 Mix23 mitochondrial matrix import factor 23 gene DOID:9270 alkaptonuria ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1564589 Galnt4 polypeptide N-acetylgalactosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1345094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564589 Galnt4 polypeptide N-acetylgalactosaminyltransferase 4 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345094 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1564591 Fam178b family with sequence similarity 178, member B gene DOID:1059 intellectual disability ISO RGD:1605679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564591 Fam178b family with sequence similarity 178, member B gene DOID:5419 schizophrenia ISO RGD:1605679 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564591 Fam178b family with sequence similarity 178, member B gene DOID:630 genetic disease ISO RGD:1605679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564596 Glod5 glyoxalase domain containing 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603816 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564596 Glod5 glyoxalase domain containing 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603816 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1564596 Glod5 glyoxalase domain containing 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1564596 Glod5 glyoxalase domain containing 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603816 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1564596 Glod5 glyoxalase domain containing 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1564596 Glod5 glyoxalase domain containing 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1564596 Glod5 glyoxalase domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1603816 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564596 Glod5 glyoxalase domain containing 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 1564596 Glod5 glyoxalase domain containing 5 gene DOID:630 genetic disease ISO RGD:1603816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564603 Fam98b family with sequence similarity 98, member B gene DOID:2717 Bloom syndrome ISO RGD:1606116 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564603 Fam98b family with sequence similarity 98, member B gene DOID:630 genetic disease ISO RGD:1606116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564603 Fam98b family with sequence similarity 98, member B gene DOID:9007799 Legius Syndrome ISO RGD:1606116 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 1564603 Fam98b family with sequence similarity 98, member B gene DOID:9256 colorectal cancer ISO RGD:1606116 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564605 Hoxa11 homeobox A11 gene DOID:2213 hemorrhagic disease ISO RGD:735680 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1564605 Hoxa11 homeobox A11 gene DOID:2256 osteochondrodysplasia ISO RGD:735680 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 1564605 Hoxa11 homeobox A11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735680 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564605 Hoxa11 homeobox A11 gene DOID:557 kidney disease ISO RGD:735680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 1564605 Hoxa11 homeobox A11 gene DOID:630 genetic disease ISO RGD:735680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564605 Hoxa11 homeobox A11 gene DOID:9001611 Urogenital Abnormalities ISO RGD:735680 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 1564605 Hoxa11 homeobox A11 gene DOID:9002496 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia ISO RGD:735680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 1564605 Hoxa11 homeobox A11 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 1564605 Hoxa11 homeobox A11 gene DOID:9004998 Kyphoscoliosis IEP D RGD:11354896|PMID:18327665 20160728 RGD mRNA:decreased expression:verterbra 1564605 Hoxa11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:7240710 20190320 OMIM 1564605 Hoxa11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 PMID:11101832|PMID:25741868 1564605 Hoxa11 homeobox A11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 1564605 Hoxa11 homeobox A11 gene DOID:9006836 Contracture ISO RGD:735680 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1564605 Hoxa11 homeobox A11 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 1564605 Hoxa11 homeobox A11 gene DOID:9827 radioulnar synostosis ISO RGD:735680 D RGD:11353968|PMID:11101832 20160727 RGD 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:31135245|PMID:31712030|PMID:3963113|PMID:8053762 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0050952 spastic ataxia ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32579787 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0080490 mucolipidosis type IV ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:25741868|PMID:26467025|PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:7240710 20130221 OMIM 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: Spastic paraplegia 39 PMID:16199547|PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:30097146|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32579787|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:3963113|PMID:8053762|PMID:9536098 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1605701 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:7240710 20141015 OMIM 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31780887|PMID:33141049|PMID:3963113|PMID:8053762|PMID:9321767 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:7240710 20171011 OMIM 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:31780887|PMID:3963113|PMID:8053762 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:1389 polyneuropathy ISO RGD:1605701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22819951 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:13938 amenorrhea ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:7240710 20171011 OMIM 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Laurence-Moon syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:231 motor neuron disease ISO RGD:1605701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18313024|PMID:20603202 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20382209 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:33141049|PMID:3963113|PMID:8053762 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:2710 sick building syndrome ISO RGD:1605701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23418070 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:32579787 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:3614 Kallmann syndrome ISO RGD:1605701 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:574 peripheral nervous system disease ISO RGD:1605701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20188121 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:574 peripheral nervous system disease ISO RGD:1605701 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:630 genetic disease ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25133958|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762|PMID:9536098 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:8501 fundus dystrophy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:863 nervous system disease ISO RGD:1605701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8211998 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:870 neuropathy ISO RGD:1605701 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:9001722 Dysarthria ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 1564611 Pnpla6 patatin-like phospholipase domain containing 6 gene DOID:9007284 Precocious Puberty ISO RGD:1605701 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 1564614 Cfhr4 complement factor H-related 4 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351940 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 1564614 Cfhr4 complement factor H-related 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351940 D RGD:8554872 20210921 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564614 Cfhr4 complement factor H-related 4 gene DOID:557 kidney disease ISO RGD:1351940 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868 1564614 Cfhr4 complement factor H-related 4 gene DOID:630 genetic disease ISO RGD:1351940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1564614 Cfhr4 complement factor H-related 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351940 D RGD:8554872 20210921 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564615 Avl9 AVL9 cell migration associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604629 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564615 Avl9 AVL9 cell migration associated gene DOID:630 genetic disease ISO RGD:1604629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564615 Avl9 AVL9 cell migration associated gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1564616 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564616 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:630 genetic disease ISO RGD:1602435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564616 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602435 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564616 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564618 Shisa6 shisa family member 6 gene DOID:630 genetic disease ISO RGD:1602039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564620 Slc44a5 solute carrier family 44, member 5 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1604721 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 1564620 Slc44a5 solute carrier family 44, member 5 gene DOID:630 genetic disease ISO RGD:1604721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564621 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:0050777 Joubert syndrome ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1564621 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345463 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1564621 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1564621 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:12849 autistic disorder ISO RGD:1345463 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564621 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:630 genetic disease ISO RGD:1345463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564621 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345463 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564622 Wdr49 WD repeat domain 49 gene DOID:10283 prostate cancer ISO RGD:1354020 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1564622 Wdr49 WD repeat domain 49 gene DOID:630 genetic disease ISO RGD:1354020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564623 Ovca2 OVCA2 serine hydrolase domain containing gene DOID:2394 ovarian cancer ISO RGD:1603916 D RGD:2302168|PMID:8616839 20081124 RGD mRNA:decreased expression:ovary 1564623 Ovca2 OVCA2 serine hydrolase domain containing gene DOID:630 genetic disease ISO RGD:1603916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564625 Tm9sf3 transmembrane 9 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1604607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350698 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350698 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350698 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:7240710 20190315 OMIM 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 PMID:25644381|PMID:25741868 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1350698 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:12849 autistic disorder ISO RGD:1350698 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:630 genetic disease ISO RGD:1350698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564628 Usp27x ubiquitin specific peptidase 27, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350698 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564629 Tex44 testis expressed 44 gene DOID:0060476 Perlman syndrome ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1564629 Tex44 testis expressed 44 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1564630 Zfp275 zinc finger protein 275 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347058 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1564630 Zfp275 zinc finger protein 275 gene DOID:12849 autistic disorder ISO RGD:1347058 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2298825 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20137778|PMID:30303587 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:7240710 20130221 OMIM 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 25 PMID:16380907|PMID:20137774|PMID:20137778|PMID:24033266|PMID:25741868|PMID:25802247|PMID:26226137|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32279305|PMID:34753855|PMID:35802133|PMID:36633841|PMID:36672810 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:5419 schizophrenia ISO RGD:2298825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:2298825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25802247|PMID:28492532|PMID:30311386 1564635 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9008681 Deafness ISO RGD:2298825 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 1564636 Ovch2 ovochymase 2 gene DOID:630 genetic disease ISO RGD:1602408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564638 Sec14l5 SEC14-like lipid binding 5 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1564638 Sec14l5 SEC14-like lipid binding 5 gene DOID:630 genetic disease ISO RGD:1605420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1342509 D RGD:9684975|PMID:19815934 20141212 RGD DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:3633 beta-mannosidosis ISO RGD:1342509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1342509 D RGD:9684975|PMID:19815934 20141212 RGD DNA:SNPs: :rs10516487,rs17266594(human) 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1342509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:7188 autoimmune thyroiditis onset ISO RGD:1342509 D RGD:9684981|PMID:24127308 20141212 RGD DNA:SNP: :rs3733197(human) 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:8893 psoriasis susceptibility ISO RGD:1342509 D RGD:9684977|PMID:21989138 20141212 RGD DNA:haplotype: : rs10516487, rs3733197, rs17266594(human) 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1342509 D RGD:9684981|PMID:24127308 20141212 RGD DNA:SNP: :rs3733197(human) 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1342509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204447 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1342509 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Association with systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204447 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1342509 D RGD:9684976|PMID:18204447 20141212 RGD DNA:SNPs:introns: 1564639 Bank1 B-cell scaffold protein with ankyrin repeats 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1342509 D RGD:9684973|PMID:24342660 20141211 RGD DNA:SNP: :rs3733197(human) 1564640 Akap17a A-kinase anchoring protein 17A gene DOID:12849 autistic disorder ISO RGD:1606031 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564641 Heg1 heart development protein with EGF-like domains 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1564641 Heg1 heart development protein with EGF-like domains 1 gene DOID:630 genetic disease ISO RGD:1603204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564641 Heg1 heart development protein with EGF-like domains 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 1564641 Heg1 heart development protein with EGF-like domains 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603204 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1564641 Heg1 heart development protein with EGF-like domains 1 gene DOID:9270 alkaptonuria ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1564642 Trim35 tripartite motif-containing 35 gene DOID:630 genetic disease ISO RGD:1344257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564643 Bex2 brain expressed X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353223 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564643 Bex2 brain expressed X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1353223 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564643 Bex2 brain expressed X-linked 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353223 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 1564643 Bex2 brain expressed X-linked 2 gene DOID:630 genetic disease ISO RGD:1353223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564644 Ubl5 ubiquitin-like 5 gene DOID:12849 autistic disorder ISO RGD:1351956 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564654 Syt16 synaptotagmin 16 gene DOID:630 genetic disease ISO RGD:1346455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354021 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1354021 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1354021 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:630 genetic disease ISO RGD:1354021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1354021 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1564659 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1354021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 1564660 Ankrd7 ankyrin repeat domain 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352130 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564660 Ankrd7 ankyrin repeat domain 7 gene DOID:630 genetic disease ISO RGD:1352130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564664 RGD1564664 similar to LOC387763 protein gene DOID:1059 intellectual disability ISO RGD:4108561 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564668 Lrit2 leucine-rich repeat, Ig-like and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1352534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564669 Zfp280c zinc finger protein 280C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349297 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564669 Zfp280c zinc finger protein 280C gene DOID:12849 autistic disorder ISO RGD:1349297 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564669 Zfp280c zinc finger protein 280C gene DOID:630 genetic disease ISO RGD:1349297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564670 Cpeb3 cytoplasmic polyadenylation element binding protein 3 gene DOID:630 genetic disease ISO RGD:1348549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564670 Cpeb3 cytoplasmic polyadenylation element binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348549 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1564672 Shisal2b shisa like 2B gene DOID:630 genetic disease ISO RGD:2293813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564672 Shisal2b shisa like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293813 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564673 MGC116121 similar to RIKEN cDNA 2700062C07 gene DOID:1059 intellectual disability ISO RGD:1347622 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564677 Onecut2 one cut homeobox 2 gene DOID:0050770 polycystic liver disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 1564677 Onecut2 one cut homeobox 2 gene DOID:630 genetic disease ISO RGD:1354460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564677 Onecut2 one cut homeobox 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 1564677 Onecut2 one cut homeobox 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1354460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 1564677 Onecut2 one cut homeobox 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354460 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 1564680 Col28a1 collagen type XXVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1604476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564680 Col28a1 collagen type XXVIII alpha 1 chain gene DOID:670 amphetamine abuse ISO RGD:1604476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1564681 Urgcp upregulator of cell proliferation gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604342 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564681 Urgcp upregulator of cell proliferation gene DOID:630 genetic disease ISO RGD:1604342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564687 Nmrk1 nicotinamide riboside kinase 1 gene DOID:630 genetic disease ISO RGD:1343469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564689 Gpr174 G protein-coupled receptor 174 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345699 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564689 Gpr174 G protein-coupled receptor 174 gene DOID:12849 autistic disorder ISO RGD:1345699 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564689 Gpr174 G protein-coupled receptor 174 gene DOID:630 genetic disease ISO RGD:1345699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564691 Gon4l gon-4 like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1564691 Gon4l gon-4 like gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 1564691 Gon4l gon-4 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1564691 Gon4l gon-4 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1564691 Gon4l gon-4 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1564691 Gon4l gon-4 like gene DOID:1059 intellectual disability ISO RGD:1606548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1564691 Gon4l gon-4 like gene DOID:1540 parathyroid carcinoma ISO RGD:1606548 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564691 Gon4l gon-4 like gene DOID:3070 high grade glioma ISO RGD:1606548 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1564691 Gon4l gon-4 like gene DOID:5812 MHC class II deficiency ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1564691 Gon4l gon-4 like gene DOID:8850 salivary gland cancer ISS RGD:2312710 D RGD:13592920 20180518 MouseDO 1564691 Gon4l gon-4 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606548 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564695 Fam181b family with sequence similarity 181, member B gene DOID:1059 intellectual disability ISO RGD:1605261 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564695 Fam181b family with sequence similarity 181, member B gene DOID:630 genetic disease ISO RGD:1605261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564700 Ubp1 upstream binding protein 1 gene DOID:630 genetic disease ISO RGD:1345367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564703 Fer1l6 fer-1-like family member 6 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1625099 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1564703 Fer1l6 fer-1-like family member 6 gene DOID:630 genetic disease ISO RGD:1625099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564706 Obi1 ORC ubiquitin ligase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354147 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1564706 Obi1 ORC ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1354147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564707 Dock11 dedicator of cytokinesis 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348616 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564707 Dock11 dedicator of cytokinesis 11 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1348616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1564707 Dock11 dedicator of cytokinesis 11 gene DOID:12849 autistic disorder ISO RGD:1348616 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564707 Dock11 dedicator of cytokinesis 11 gene DOID:630 genetic disease ISO RGD:1348616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:0060356 Vici syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:10283 prostate cancer ISO RGD:1350599 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:1059 intellectual disability ISO RGD:1350599 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:12849 autistic disorder ISO RGD:1350599 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:5419 schizophrenia ISO RGD:1350599 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:630 genetic disease ISO RGD:1350599 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25621899|PMID:26506440|PMID:28492532 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1350599 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1564708 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350599 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1564710 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:1059 intellectual disability ISO RGD:1350551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564710 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:12271 aniridia ISO RGD:1350551 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1564710 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:3764 Denys-Drash syndrome ISO RGD:1350551 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 1564710 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:5419 schizophrenia ISO RGD:1350551 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564710 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:630 genetic disease ISO RGD:1350551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564710 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:9002455 Aniridia 1 ISO RGD:1350551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 1564713 Fam110c family with sequence similarity 110, member C gene DOID:630 genetic disease ISO RGD:1606851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564717 Igsf9b immunoglobulin superfamily, member 9B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604824 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1564717 Igsf9b immunoglobulin superfamily, member 9B gene DOID:5419 schizophrenia ISO RGD:1604824 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564717 Igsf9b immunoglobulin superfamily, member 9B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604824 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564717 Igsf9b immunoglobulin superfamily, member 9B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 1564719 Faap24 FA core complex associated protein 24 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1564719 Faap24 FA core complex associated protein 24 gene DOID:630 genetic disease ISO RGD:1605898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564722 Izumo4 IZUMO family member 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1564722 Izumo4 IZUMO family member 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1564722 Izumo4 IZUMO family member 4 gene DOID:630 genetic disease ISO RGD:1349340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564722 Izumo4 IZUMO family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349340 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564723 Naa11 N(alpha)-acetyltransferase 11, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1625645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564723 Naa11 N(alpha)-acetyltransferase 11, NatA catalytic subunit gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1625645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:0050545 visceral heterotaxy ISO RGD:1352736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352736 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1352736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616478|PMID:28492532|PMID:31026592 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus ISO RGD:1352736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus susceptibility ISO RGD:1615749 D RGD:155630601|PMID:20080492 20221024 RGD 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9000438 Subarachnoid Hemorrhage susceptibility ISO RGD:1352736 D RGD:155630602|PMID:16741147 20221024 RGD DNA:polymorphism:cds:p.Gly243Asp(human) 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:7240710 20190315 OMIM 1564724 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal PMID:25741868|PMID:27616478|PMID:28492532|PMID:30664273|PMID:31026592|PMID:32111882|PMID:34008892 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1604899 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:7240710 20130221 OMIM 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:20080937|PMID:22213132|PMID:25741868|PMID:28122681|PMID:28492532|PMID:30676690 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:10316 pneumoconiosis ISO RGD:1604899 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1604899 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1604899 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1604899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28649519 1564725 Alg11 ALG11, alpha-1,2-mannosyltransferase gene DOID:893 Wilson disease ISO RGD:1604899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30655162|PMID:30676690 1564726 Zfp341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:7240710 20190315 OMIM 1564726 Zfp341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive PMID:25741868|PMID:28492532|PMID:29907690|PMID:29907691 1564726 Zfp341 zinc finger protein 341 gene DOID:2843 long QT syndrome ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 1564726 Zfp341 zinc finger protein 341 gene DOID:630 genetic disease ISO RGD:1346802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1564729 Gpr150 G protein-coupled receptor 150 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564729 Gpr150 G protein-coupled receptor 150 gene DOID:630 genetic disease ISO RGD:1343055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564729 Gpr150 G protein-coupled receptor 150 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 1564729 Gpr150 G protein-coupled receptor 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343055 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564729 Gpr150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1564729 Gpr150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564740 Nr6a1 nuclear receptor subfamily 6, group A, member 1 gene DOID:630 genetic disease ISO RGD:1345014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564745 Mroh9 maestro heat-like repeat family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1602210 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564745 Mroh9 maestro heat-like repeat family member 9 gene DOID:630 genetic disease ISO RGD:1602210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564745 Mroh9 maestro heat-like repeat family member 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602210 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1564745 Mroh9 maestro heat-like repeat family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602210 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564746 Ube2s ubiquitin-conjugating enzyme E2S gene DOID:630 genetic disease ISO RGD:1343646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564749 Bex4 brain expressed, X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352390 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564749 Bex4 brain expressed, X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1352390 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564749 Bex4 brain expressed, X-linked 4 gene DOID:13580 cholestasis ISO RGD:1352390 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1564749 Bex4 brain expressed, X-linked 4 gene DOID:630 genetic disease ISO RGD:1352390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564751 Usp50 ubiquitin specific peptidase 50 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532 1564751 Usp50 ubiquitin specific peptidase 50 gene DOID:2717 Bloom syndrome ISO RGD:1343119 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564751 Usp50 ubiquitin specific peptidase 50 gene DOID:630 genetic disease ISO RGD:1343119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564751 Usp50 ubiquitin specific peptidase 50 gene DOID:9256 colorectal cancer ISO RGD:1343119 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564753 Pum3 pumilio RNA-binding family member 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318702 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1564753 Pum3 pumilio RNA-binding family member 3 gene DOID:630 genetic disease ISO RGD:1318702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:7240710 20130425 OMIM 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:18499083|PMID:25314148|PMID:25741868|PMID:29914564|PMID:30474133 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:543 dystonia ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1602165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564754 Figla folliculogenesis specific bHLH transcription factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1564760 Hmg20a high mobility group 20A gene DOID:2717 Bloom syndrome ISO RGD:1350467 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1564760 Hmg20a high mobility group 20A gene DOID:5419 schizophrenia ISO RGD:1350467 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564760 Hmg20a high mobility group 20A gene DOID:630 genetic disease ISO RGD:1350467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564760 Hmg20a high mobility group 20A gene DOID:9256 colorectal cancer ISO RGD:1350467 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1564760 Hmg20a high mobility group 20A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:1909 melanoma ISO RGD:1605128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1605128 D RGD:11252097|PMID:17994571 20160624 RGD associated with Myelodysplastic-Myeloproliferative Diseases 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1605128 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Hereditary elliptocytosis 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:2373 hereditary elliptocytosis ISS RGD:1605128 D RGD:13592920 20180518 MouseDO OMIM:130600 | OMIM:611804 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:583 hemolytic anemia ISO RGD:1557540 D RGD:11252099|PMID:9927493 20160624 RGD 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:630 genetic disease ISO RGD:1605128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1557540 D RGD:11252098|PMID:9822582 20160624 RGD 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:7240710 20130425 OMIM 1564762 Epb41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Elliptocytosis 1 PMID:1430200|PMID:21839655|PMID:2384597|PMID:2384598|PMID:25741868|PMID:27551681|PMID:27667160|PMID:28492532|PMID:3134067|PMID:3194408|PMID:33942936|PMID:3722387|PMID:3965051|PMID:6894932|PMID:7255153|PMID:7627190|PMID:8423235 1564763 Nudt10 nudix hydrolase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352246 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564763 Nudt10 nudix hydrolase 10 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1352246 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 1564763 Nudt10 nudix hydrolase 10 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1564763 Nudt10 nudix hydrolase 10 gene DOID:12849 autistic disorder ISO RGD:1352246 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564763 Nudt10 nudix hydrolase 10 gene DOID:630 genetic disease ISO RGD:1352246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564767 Hist1h2af histone cluster 1 H2A family member F gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353821 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1564769 Heatr1 HEAT repeat containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605668 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564769 Heatr1 HEAT repeat containing 1 gene DOID:3068 glioblastoma ISO RGD:1605668 D RGD:10761721|PMID:25126583 20160205 RGD mRNA, protein:increased expression:brain 1564769 Heatr1 HEAT repeat containing 1 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1605668 D RGD:10761108|PMID:26676747 20160205 RGD 1564769 Heatr1 HEAT repeat containing 1 gene DOID:630 genetic disease ISO RGD:1605668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564769 Heatr1 HEAT repeat containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605668 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0050902 medulloblastoma ISO RGD:1352934 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27058758 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0050902 medulloblastoma ISO RGD:1352934 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352934 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26235985|PMID:31474318 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1352934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:12849 autistic disorder ISO RGD:1352934 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:1612 breast cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:breast, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:1790 malignant mesothelioma ISO RGD:1352934 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:1826 epilepsy ISO RGD:1352934 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:630 genetic disease ISO RGD:1352934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12535527|PMID:16199547|PMID:17576681|PMID:17631897|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:28333917|PMID:28371085|PMID:28492532|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:9536098 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557808 D RGD:151356499|PMID:30297359 20220208 RGD 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1352934 D RGD:151356660|PMID:16301996 20220209 RGD associated with hepatitis B; mRNA,protein:decreased expression:liver (human) 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:8398 osteoarthritis ISO RGD:1352934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:8649 tongue cancer ameliorates ISO RGD:1557808 D RGD:151356506|PMID:25918862 20220208 RGD 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352934 D RGD:11096798|PMID:26087195 20220210 RGD human cells in mouse model 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352934 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:7240710 20151209 OMIM 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:25533962|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:26598523|PMID:27159028|PMID:28371085|PMID:28492532|PMID:29490693|PMID:30349862|PMID:30734472|PMID:30817323|PMID:30936465|PMID:31474318|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:33692367|PMID:34008892|PMID:9536098 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352934 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352934 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1352934 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1352934 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741895 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9256 colorectal cancer ISO RGD:1352934 D RGD:151356658|PMID:31391454 20220209 RGD protein:increased expression:colorectum (human) 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9256 colorectal cancer ameliorates ISO RGD:1352934 D RGD:151356658|PMID:31391454 20220209 RGD human cells in mouse model 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:151356503|PMID:26892600 20220208 RGD protein:increased expression:colorectum (human) 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:151356505|PMID:27007150 20220208 RGD protein:increased expression:colorectum (human) 1564771 Ddx3x DEAD-box helicase 3, X-linked gene DOID:9256 colorectal cancer treatment ISO RGD:1352934 D RGD:11096798|PMID:26087195 20220209 RGD 1564772 Hmcn1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:7240710 20130425 OMIM 1564772 Hmcn1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:14570714|PMID:17216616|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:25986072|PMID:27007659|PMID:28492532|PMID:9536098|PMID:9715689 1564772 Hmcn1 hemicentin 1 gene DOID:10283 prostate cancer ISO RGD:1605323 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1564772 Hmcn1 hemicentin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605323 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564772 Hmcn1 hemicentin 1 gene DOID:4448 macular degeneration ISO RGD:1605323 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:28492532 1564772 Hmcn1 hemicentin 1 gene DOID:630 genetic disease ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564772 Hmcn1 hemicentin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605323 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564773 Galntl6 polypeptide N-acetylgalactosaminyltransferase-like 6 gene DOID:630 genetic disease ISO RGD:2301498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564773 Galntl6 polypeptide N-acetylgalactosaminyltransferase-like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564776 Azin2 antizyme inhibitor 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606188 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1564776 Azin2 antizyme inhibitor 2 gene DOID:630 genetic disease ISO RGD:1606188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564777 Rnf185 ring finger protein 185 gene DOID:630 genetic disease ISO RGD:1602840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564778 Msl1 MSL complex subunit 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:2307385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1564778 Msl1 MSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:2307385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564779 Synpo2 synaptopodin 2 gene DOID:4001 ovarian carcinoma ISO RGD:1344756 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 1564779 Synpo2 synaptopodin 2 gene DOID:630 genetic disease ISO RGD:1344756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564779 Synpo2 synaptopodin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344756 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564784 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348980 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1564784 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:630 genetic disease ISO RGD:1348980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564784 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564784 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348980 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564784 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:9565 dextrocardia ISO RGD:1348980 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Dextrocardia 1564787 Srp72 signal recognition particle 72 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1314481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 1564787 Srp72 signal recognition particle 72 gene DOID:13580 cholestasis ISO RGD:1314481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1564787 Srp72 signal recognition particle 72 gene DOID:630 genetic disease ISO RGD:1314481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1564787 Srp72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:7240710 20150304 OMIM 1564787 Srp72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 1 PMID:22541560|PMID:25741868|PMID:28492532 1564787 Srp72 signal recognition particle 72 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1314481 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 1564787 Srp72 signal recognition particle 72 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1564788 Wrn WRN RecQ like helicase gene DOID:0050902 medulloblastoma ISO RGD:1318280 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16673358|PMID:16786514|PMID:20301687|PMID:24033266|PMID:25182132|PMID:25390333|PMID:25741868|PMID:27667302|PMID:28492532|PMID:8968742|PMID:9225981 1564788 Wrn WRN RecQ like helicase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 1564788 Wrn WRN RecQ like helicase gene DOID:11162 respiratory failure ISO RGD:1318280 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive pulmonary failure PMID:11863428|PMID:36214313 1564788 Wrn WRN RecQ like helicase gene DOID:1580 diffuse scleroderma ISO RGD:1318280 D RGD:10042980|PMID:16906373 20150512 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:1612 breast cancer ISO RGD:1318280 D RGD:10042982|PMID:17301258 20150512 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:1612 breast cancer ISO RGD:1318280 D RGD:10042983|PMID:19205873 20150512 RGD DNA:polymorphism: :p.L1074F (human) 1564788 Wrn WRN RecQ like helicase gene DOID:1612 breast cancer ISO RGD:1318280 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10069711|PMID:10220139|PMID:16786514|PMID:24728327|PMID:25741868|PMID:28492532 1564788 Wrn WRN RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15609317|PMID:24728327|PMID:25637295|PMID:25741868|PMID:28492532 1564788 Wrn WRN RecQ like helicase gene DOID:3393 coronary artery disease ISO RGD:1318280 D RGD:1580824|PMID:11186893 20121012 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:397 restrictive cardiomyopathy ISO RGD:1318280 D RGD:1580820|PMID:15916825 20121012 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21267443|PMID:22766507 1564788 Wrn WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:1580825|PMID:16673358 20121012 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:7240710 20130221 OMIM 1564788 Wrn WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:10069711|PMID:10189141|PMID:10220139|PMID:10347997|PMID:10543396|PMID:10628995|PMID:10811130|PMID:12244128|PMID:12827497|PMID:15355988|PMID:15489508|PMID:15609317|PMID:15888165|PMID:16199547|PMID:16673358|PMID:16786514|PMID:17478382|PMID:17576681|PMID:18205852|PMID:18414213|PMID:18810497|PMID:19763152|PMID:19824023|PMID:20157511|PMID:20301687|PMID:20307669|PMID:20443122|PMID:20657174|PMID:20802463|PMID:20855428|PMID:21389352|PMID:22188495|PMID:22406018|PMID:23045531|PMID:23583337|PMID:23849162|PMID:23936869|PMID:24033266|PMID:24429382|PMID:24728327|PMID:25018888|PMID:25059010|PMID:25182132|PMID:25390333|PMID:25619955|PMID:25637295|PMID:25741868|PMID:26296701|PMID:26344056|PMID:26546047|PMID:26689913|PMID:26695548|PMID:26901136|PMID:27084275|PMID:27153395|PMID:27559010|PMID:27667302|PMID:28202063|PMID:28276523|PMID:28492532|PMID:28795391|PMID:28861129|PMID:29753700|PMID:30140198|PMID:30891318|PMID:32041611|PMID:32359129|PMID:36292687|PMID:8037212|PMID:8602509|PMID:8968742|PMID:9012406|PMID:9048918|PMID:9225981|PMID:9241267|PMID:9450180|PMID:9536098 1564788 Wrn WRN RecQ like helicase gene DOID:5844 myocardial infarction ISO RGD:1318280 D RGD:1580821|PMID:9021029 20121012 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 1564788 Wrn WRN RecQ like helicase gene DOID:9002644 Premature Aging ISO RGD:1318280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21267443 1564788 Wrn WRN RecQ like helicase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1318280 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29616805 1564788 Wrn WRN RecQ like helicase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 1564788 Wrn WRN RecQ like helicase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557552 D RGD:10042987|PMID:18295300 20150512 RGD 1564788 Wrn WRN RecQ like helicase gene DOID:9669 senile cataract no_association ISO RGD:1318280 D RGD:10042985|PMID:20808731 20150512 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) 1564788 Wrn WRN RecQ like helicase gene DOID:9669 senile cataract susceptibility ISO RGD:1318280 D RGD:10042984|PMID:23334603 20150512 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:0050127 sinusitis ISO RGD:1346821 D RGD:5147389|PMID:21385388 20110803 RGD mRNA,protein:decreased expression:nasal mucosa 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma ISO RGD:1346821 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma ISO RGD:1346821 D RGD:5144232|PMID:17218572 20110802 RGD protein:increased expression:sputum 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma ISO RGD:1346821 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:11813133 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma ISO RGD:1558355 D RGD:5128690|PMID:15531759 20110803 RGD mRNA,protein:decreased expression:;lung 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma ISO RGD:1558355 D RGD:5144233|PMID:16456148 20110802 RGD 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma no_association ISO RGD:1346821 D RGD:5144230|PMID:18201431 20110802 RGD DNA:SNP:promoter:-112G>A (human) 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma severity ISO RGD:1346821 D RGD:5144231|PMID:18089940 20110802 RGD DNA:SNP:promoter:-112G>A (human) 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma susceptibility ISO RGD:1346821 D RGD:5144229|PMID:11813133 20110802 RGD DNA:SNP:promoter:-112G>A (human) 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:2841 asthma susceptibility ISO RGD:1346821 D RGD:7240710 20190502 OMIM 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1558355 D RGD:5144129|PMID:21478551 20110801 RGD 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346821 D RGD:5147390|PMID:20466451 20110803 RGD 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:1346821 D RGD:5144225|PMID:21410962 20110802 RGD DNA:SNP: :rs7726552 (human) 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:5144232|PMID:17218572 20110802 RGD protein:increased expression:sputum 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:5147389|PMID:21385388 20110803 RGD mRNA,protein:decreased expression:nasal mucosa 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:630 genetic disease ISO RGD:1346821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346821 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1346821 D RGD:5147392|PMID:19418968 20110803 RGD 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1558355 D RGD:5147390|PMID:20466451 20110803 RGD 1564790 Scgb3a2 secretoglobin, family 3A, member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1564793 Stk38l serine/threonine kinase 38 like gene DOID:630 genetic disease ISO RGD:1353936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564793 Stk38l serine/threonine kinase 38 like gene DOID:8466 retinal degeneration ISO RGD:12346036 D RGD:9068941 20230504 OMIA Early retinal degeneration PMID:10409424|PMID:12909371|PMID:20887780|PMID:21980341|PMID:22065099|PMID:24367709|PMID:24581223|PMID:2558906|PMID:30050836|PMID:30135513|PMID:3496233 1564796 Scrt2 scratch family transcriptional repressor 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 1564796 Scrt2 scratch family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1348701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564796 Scrt2 scratch family transcriptional repressor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348701 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564796 Scrt2 scratch family transcriptional repressor 2 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348701 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 1564797 Emx2 empty spiracles homeobox 2 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1322367 D RGD:153323301|PMID:28830374 20220811 RGD mRNA:decreased expression:colorectal mucosa (human) 1564797 Emx2 empty spiracles homeobox 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1322367 D RGD:153323292|PMID:23029345 20220811 RGD human cells in mouse model 1564797 Emx2 empty spiracles homeobox 2 gene DOID:1826 epilepsy ISO RGD:1322367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1564797 Emx2 empty spiracles homeobox 2 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1322367 D RGD:11079903|PMID:26132438 20220812 RGD protein:decreased expression:lung (human) 1564797 Emx2 empty spiracles homeobox 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322367 D RGD:153323303|PMID:21726823 20220812 RGD mRNA,protein:decreased expression:lung (human) 1564797 Emx2 empty spiracles homeobox 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322367 D RGD:153323302|PMID:31432154 20220812 RGD protein:decreased expression:esophagus (human) 1564797 Emx2 empty spiracles homeobox 2 gene DOID:630 genetic disease ISO RGD:1322367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564797 Emx2 empty spiracles homeobox 2 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:1322367 D RGD:153323312|PMID:25023662 20220812 RGD mRNA:decreased expression:mesothelium of pleural cavity (human) 1564797 Emx2 empty spiracles homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1322367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 1564797 Emx2 empty spiracles homeobox 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20697358 1564797 Emx2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:7240710 20190327 OMIM 1564797 Emx2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:8528262|PMID:9359037 1564797 Emx2 empty spiracles homeobox 2 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1322367 D RGD:153323291|PMID:27712600 20220811 RGD human cells in mouse model 1564799 Tmem47 transmembrane protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343840 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564799 Tmem47 transmembrane protein 47 gene DOID:12849 autistic disorder ISO RGD:1343840 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564799 Tmem47 transmembrane protein 47 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1343840 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 1564799 Tmem47 transmembrane protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343840 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564799 Tmem47 transmembrane protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343840 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1564804 C5h1orf50 similar to human chromosome 1 open reading frame 50 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350429 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1564804 C5h1orf50 similar to human chromosome 1 open reading frame 50 gene DOID:630 genetic disease ISO RGD:1350429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564805 Rtl3 retrotransposon Gag like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346934 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564805 Rtl3 retrotransposon Gag like 3 gene DOID:12849 autistic disorder ISO RGD:1346934 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564805 Rtl3 retrotransposon Gag like 3 gene DOID:630 genetic disease ISO RGD:1346934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564806 Uprt uracil phosphoribosyltransferase homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605870 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564806 Uprt uracil phosphoribosyltransferase homolog gene DOID:12849 autistic disorder ISO RGD:1605870 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564806 Uprt uracil phosphoribosyltransferase homolog gene DOID:630 genetic disease ISO RGD:1605870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564806 Uprt uracil phosphoribosyltransferase homolog gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5132591|PMID:1476792 20110526 RGD protein:decreased activity:mammary gland (rat) 1564808 Usp46 ubiquitin specific peptidase 46 gene DOID:630 genetic disease ISO RGD:1344409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564809 Fsd1l fibronectin type III and SPRY domain containing 1-like gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1353389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:17044012|PMID:17878207|PMID:18752264|PMID:28492532 1564809 Fsd1l fibronectin type III and SPRY domain containing 1-like gene DOID:630 genetic disease ISO RGD:1353389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564811 Pp2d1 protein phosphatase 2C-like domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1564813 Crispld1 cysteine-rich secretory protein LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1605927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564816 Stard13 StAR-related lipid transfer domain containing 13 gene DOID:0080600 COVID-19 ISO RGD:1344085 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564816 Stard13 StAR-related lipid transfer domain containing 13 gene DOID:630 genetic disease ISO RGD:1344085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564816 Stard13 StAR-related lipid transfer domain containing 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564818 Lrrc25 leucine rich repeat containing 25 gene DOID:630 genetic disease ISO RGD:1352396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564818 Lrrc25 leucine rich repeat containing 25 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1352396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1564819 Arl6ip6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 1564819 Arl6ip6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:630 genetic disease ISO RGD:1347021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564820 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:630 genetic disease ISO RGD:1346294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564820 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346294 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1564820 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346294 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:7240710 20161221 OMIM 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26633542|PMID:27180337|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31603145|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32651481|PMID:32746448|PMID:32860008|PMID:34008892|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:7240710 20130221 OMIM 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080488 mucolipidosis ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:20301728|PMID:21416587|PMID:21549105|PMID:22495880|PMID:22570975|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24375680|PMID:24798265|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:27662472|PMID:28095893|PMID:28396763|PMID:28492532|PMID:29704188|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31130284|PMID:31579991|PMID:31934135|PMID:32651481|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:16465621|PMID:17576681|PMID:19617216|PMID:19938078|PMID:20301728|PMID:23192343|PMID:24045841|PMID:24550498|PMID:25107912|PMID:25505245|PMID:25741868|PMID:28492532|PMID:34008892|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Legg-Calve-Perthes disease PMID:19617216|PMID:20301728|PMID:23566849|PMID:25505245|PMID:25741868|PMID:25788519|PMID:28492532 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:630 genetic disease ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16465621|PMID:17576681|PMID:19617216|PMID:25107912|PMID:25741868|PMID:26130485|PMID:28492532|PMID:30882951|PMID:9536098 1564821 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:9004041 Mucolipidosis III Alpha Beta, Atypical ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical PMID:15633164|PMID:17576681|PMID:28492532|PMID:9536098 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 17 PMID:30042186|PMID:30489636|PMID:33194656 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349181 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:7240710 20190315 OMIM 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group U PMID:11118202|PMID:22232082|PMID:22464251|PMID:23054243|PMID:23383274|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28864920|PMID:30306255|PMID:32832836|PMID:32860008|PMID:33471991 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 PMID:30042186|PMID:30489636|PMID:33194656 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:12849 autistic disorder ISO RGD:1349181 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:2317365|PMID:16540687 20100331 RGD DNA:SNP:exon:rs3218536 (human) 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:2317507|PMID:17986315 20100407 RGD DNA:polymorphism: :p.R188H (human) 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:219 colon cancer ISO RGD:1349181 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:23054243|PMID:25637381|PMID:25741868|PMID:27233470|PMID:28492532|PMID:28767289 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:2843 long QT syndrome ISO RGD:1349181 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:3459 breast carcinoma ISO RGD:1349181 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25330149|PMID:25452441|PMID:26681312|PMID:26845104|PMID:28492532|PMID:30322717|PMID:31463769 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349181 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:630 genetic disease ISO RGD:1349181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:11118202|PMID:22232082|PMID:26046366|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:30306255|PMID:32832836 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31159747|PMID:31463769|PMID:9536098 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31463769|PMID:9536098 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:3471991|PMID:36113475|PMID:9536098 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1349181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 1564823 Xrcc2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:32235514 1564826 Sms spermine synthase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1345734 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25741868 1564826 Sms spermine synthase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345734 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564826 Sms spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:7240710 20140723 OMIM 1564826 Sms spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type PMID:14508504|PMID:18550699|PMID:19206178|PMID:19377476|PMID:22612257|PMID:23696453|PMID:23805436|PMID:23897707|PMID:25741868|PMID:25888122|PMID:26174906|PMID:26467025|PMID:26761001|PMID:28492532|PMID:31580924|PMID:33624935|PMID:34177437|PMID:5823961 1564826 Sms spermine synthase gene DOID:1059 intellectual disability ISO RGD:1345734 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564826 Sms spermine synthase gene DOID:12849 autistic disorder ISO RGD:1345734 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564826 Sms spermine synthase gene DOID:630 genetic disease ISO RGD:1345734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23805436|PMID:25741868|PMID:25936994|PMID:26467025|PMID:26761001|PMID:28492532|PMID:34177437 1564826 Sms spermine synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1345734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 1564826 Sms spermine synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345734 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564826 Sms spermine synthase gene DOID:9008582 Developmental Disease ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1564828 Bmp2k BMP-2 inducible kinase gene DOID:630 genetic disease ISO RGD:1604611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564828 Bmp2k BMP-2 inducible kinase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604611 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1564830 Irx6 iroquois homeobox 6 gene DOID:0050777 Joubert syndrome ISO RGD:1344383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 1564830 Irx6 iroquois homeobox 6 gene DOID:630 genetic disease ISO RGD:1344383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564833 Cnst consortin, connexin sorting protein gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1564833 Cnst consortin, connexin sorting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1606946 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564833 Cnst consortin, connexin sorting protein gene DOID:50 thyroid gland disease ISO RGD:1606946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 1564833 Cnst consortin, connexin sorting protein gene DOID:630 genetic disease ISO RGD:1606946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564833 Cnst consortin, connexin sorting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606946 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564835 Hephl1 hephaestin-like 1 gene DOID:1059 intellectual disability ISO RGD:1345614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564835 Hephl1 hephaestin-like 1 gene DOID:630 genetic disease ISO RGD:1345614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1564835 Hephl1 hephaestin-like 1 gene DOID:9001311 Lichen Planus Follicularis ISO RGD:1345614 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lichen planus follicularis 1564835 Hephl1 hephaestin-like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:7240710 20201202 OMIM 1564835 Hephl1 hephaestin-like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pili torti and developmental delay PMID:25741868|PMID:31125343 1564837 Mis12 MIS12 kinetochore complex component gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1346036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1564837 Mis12 MIS12 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1346036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564837 Mis12 MIS12 kinetochore complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1564842 Cyth4 cytohesin 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1564842 Cyth4 cytohesin 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1345777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1564842 Cyth4 cytohesin 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1564842 Cyth4 cytohesin 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1564842 Cyth4 cytohesin 4 gene DOID:630 genetic disease ISO RGD:1345777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564852 Map7d2 MAP7 domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564852 Map7d2 MAP7 domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605254 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564852 Map7d2 MAP7 domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564852 Map7d2 MAP7 domain containing 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564852 Map7d2 MAP7 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1605254 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564852 Map7d2 MAP7 domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1564852 Map7d2 MAP7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564852 Map7d2 MAP7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605254 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564857 Mettl24 methyltransferase like 24 gene DOID:630 genetic disease ISO RGD:1343913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564862 Zfp428 zinc finger protein 428 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1564862 Zfp428 zinc finger protein 428 gene DOID:5419 schizophrenia ISO RGD:1603271 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564862 Zfp428 zinc finger protein 428 gene DOID:630 genetic disease ISO RGD:1603271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564865 AKR1C3l1 aldo-keto reductase family 1 member C3-like 1 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 1564868 Tmtc1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:0080600 COVID-19 ISO RGD:1605326 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564868 Tmtc1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:630 genetic disease ISO RGD:1605326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564869 Wdr75 WD repeat domain 75 gene DOID:0111944 immunodeficiency 31B ISO RGD:1604581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1564869 Wdr75 WD repeat domain 75 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604581 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 1564869 Wdr75 WD repeat domain 75 gene DOID:630 genetic disease ISO RGD:1604581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564869 Wdr75 WD repeat domain 75 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:1604581 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 1564869 Wdr75 WD repeat domain 75 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604581 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564871 Nme9 NME/NM23 family member 9 gene DOID:630 genetic disease ISO RGD:1351445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564872 Magee2 MAGE family member E2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346034 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564872 Magee2 MAGE family member E2 gene DOID:12849 autistic disorder ISO RGD:1346034 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564872 Magee2 MAGE family member E2 gene DOID:630 genetic disease ISO RGD:1346034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564874 Nkx1-1 NK1 homeobox 1 gene DOID:1856 cherubism ISO RGD:1603306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1564875 Ldb3 LIM domain binding 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20474083|PMID:23861362|PMID:24033266|PMID:25179549|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 1564875 Ldb3 LIM domain binding 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351488 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:4855680|PMID:9536098 1564875 Ldb3 LIM domain binding 3 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:16287957|PMID:16685657|PMID:18510548|PMID:23399955|PMID:28492532 1564875 Ldb3 LIM domain binding 3 gene DOID:0080092 myofibrillar myopathy 1 ISS RGD:1557802 D RGD:13592920 20180518 MouseDO OMIM:601419 1564875 Ldb3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:7240710 20130425 OMIM 1564875 Ldb3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARKESBERY-GRIGGS DISTAL MYOPATHY | ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21520333|PMID:21676617|PMID:22337857|PMID:22349865|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:30026549|PMID:30471092|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31127727|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32183154|PMID:32721234|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33308939|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34088380|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 1564875 Ldb3 LIM domain binding 3 gene DOID:0080100 congenital myopathy ISS RGD:1557802 D RGD:13592920 20180518 MouseDO OMIM:255300 1564875 Ldb3 LIM domain binding 3 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1351488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 1564875 Ldb3 LIM domain binding 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1351488 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 1564875 Ldb3 LIM domain binding 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:23861362|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 1564875 Ldb3 LIM domain binding 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32746448 1564875 Ldb3 LIM domain binding 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:32746448 1564875 Ldb3 LIM domain binding 3 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:1351488 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:25741868 1564875 Ldb3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:7240710 20130731 OMIM 1564875 Ldb3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: Left ventricular noncompaction 3 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17337483|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25163546|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:30026549|PMID:30665703|PMID:30847666|PMID:31024045|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32746448|PMID:33029862|PMID:33500567|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 1564875 Ldb3 LIM domain binding 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411 1564875 Ldb3 LIM domain binding 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411 1564875 Ldb3 LIM domain binding 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15668942|PMID:20474083|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27005929|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:33029862 1564875 Ldb3 LIM domain binding 3 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1351488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:19377068|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 1564875 Ldb3 LIM domain binding 3 gene DOID:11720 distal myopathy ISO RGD:1351488 D RGD:11068981|PMID:17337483 20170309 RGD DNA:missense mutation:exon:p.A165V (human) 1564875 Ldb3 LIM domain binding 3 gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1351488 D RGD:12792205|PMID:24878509 20170309 RGD mRNA, protein:alternative form:exon 1564875 Ldb3 LIM domain binding 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17235623|PMID:17394203|PMID:17438622|PMID:23299917|PMID:24033266|PMID:25041374|PMID:25616123|PMID:25741868|PMID:27532257|PMID:27561770|PMID:27896284|PMID:28492532|PMID:31078652 1564875 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:11098950|PMID:20852297 20170309 RGD DNA:missense mutation:exon:p.S196L (human) 1564875 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:1580827|PMID:14660611 20170315 RGD DNA:missense mutation: :p.D626N (human) 1564875 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28166811|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572 1564875 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537 1564875 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411 1564875 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:1351488 D RGD:11527732|PMID:26419279 20170314 RGD DNA:missense mutation: :p.D117N (human) 1564875 Ldb3 LIM domain binding 3 gene DOID:2843 long QT syndrome ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 1564875 Ldb3 LIM domain binding 3 gene DOID:422 congenital structural myopathy ISO RGD:1557802 D RGD:1581815|PMID:11696561 20170315 RGD 1564875 Ldb3 LIM domain binding 3 gene DOID:440 neuromuscular disease ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 1564875 Ldb3 LIM domain binding 3 gene DOID:630 genetic disease ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564875 Ldb3 LIM domain binding 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31333075|PMID:31568572 1564875 Ldb3 LIM domain binding 3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1351488 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868|PMID:28492532 1564875 Ldb3 LIM domain binding 3 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 1564875 Ldb3 LIM domain binding 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1351488 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 1564875 Ldb3 LIM domain binding 3 gene DOID:9005160 Myofibrillar Myopathy, ZASP-Related ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:30026549|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35284542|PMID:4855680|PMID:9536098 1564875 Ldb3 LIM domain binding 3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1351488 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 1564876 Slc35e3 solute carrier family 35, member E3 gene DOID:630 genetic disease ISO RGD:1352847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564880 Acrbp acrosin binding protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1564880 Acrbp acrosin binding protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344974 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1564880 Acrbp acrosin binding protein gene DOID:0111621 Temtamy syndrome ISO RGD:1344974 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1564880 Acrbp acrosin binding protein gene DOID:630 genetic disease ISO RGD:1344974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564880 Acrbp acrosin binding protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1564880 Acrbp acrosin binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1564880 Acrbp acrosin binding protein gene DOID:9007502 Brain Neoplasms ISO RGD:1344974 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Neoplasm of brain 1564880 Acrbp acrosin binding protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344974 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1564882 Rsrc2 arginine and serine rich coiled-coil 2 gene DOID:630 genetic disease ISO RGD:1606784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564882 Rsrc2 arginine and serine rich coiled-coil 2 gene DOID:9970 obesity ISO RGD:1606784 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Obesity 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1606368 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11941538|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606368 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:630 genetic disease ISO RGD:1606368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:65 connective tissue disease ISO RGD:1606368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 1564888 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1564890 Rpe ribulose-5-phosphate-3-epimerase gene DOID:14557 primary pulmonary hypertension ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1564890 Rpe ribulose-5-phosphate-3-epimerase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320609 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1564890 Rpe ribulose-5-phosphate-3-epimerase gene DOID:630 genetic disease ISO RGD:1320609 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564890 Rpe ribulose-5-phosphate-3-epimerase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320609 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564891 Calhm1 calcium homeostasis modulator 1 gene DOID:11054 urinary bladder cancer ISO RGD:1603161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1564891 Calhm1 calcium homeostasis modulator 1 gene DOID:630 genetic disease ISO RGD:1603161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564893 Med22 mediator complex subunit 22 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564893 Med22 mediator complex subunit 22 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606332 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1564893 Med22 mediator complex subunit 22 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1564893 Med22 mediator complex subunit 22 gene DOID:0081097 Rafiq syndrome ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1564893 Med22 mediator complex subunit 22 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1606332 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1564893 Med22 mediator complex subunit 22 gene DOID:3652 Leigh disease ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1564893 Med22 mediator complex subunit 22 gene DOID:630 genetic disease ISO RGD:1606332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564895 Ahcyl2 adenosylhomocysteinase-like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601771 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1564895 Ahcyl2 adenosylhomocysteinase-like 2 gene DOID:630 genetic disease ISO RGD:1601771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564895 Ahcyl2 adenosylhomocysteinase-like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350801 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:12849 autistic disorder ISO RGD:1350801 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:14499 Fabry disease ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:630 genetic disease ISO RGD:1350801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564898 Taf7l TATA-box binding protein associated factor 7-like gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1564899 C16h10orf71 similar to human chromosome 10 open reading frame 71 gene DOID:11372 megacolon ISO RGD:1353451 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1564899 C16h10orf71 similar to human chromosome 10 open reading frame 71 gene DOID:5419 schizophrenia ISO RGD:1353451 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564899 C16h10orf71 similar to human chromosome 10 open reading frame 71 gene DOID:630 genetic disease ISO RGD:1353451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564902 Defb36 defensin beta 36 gene DOID:630 genetic disease ISO RGD:1351372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564903 Lrriq1 leucine-rich repeats and IQ motif containing 1 gene DOID:630 genetic disease ISO RGD:1343054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564904 Mex3a mex-3 RNA binding family member A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1564904 Mex3a mex-3 RNA binding family member A gene DOID:0060586 Noonan syndrome 8 ISO RGD:1625811 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1564904 Mex3a mex-3 RNA binding family member A gene DOID:0111940 immunodeficiency 42 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1564904 Mex3a mex-3 RNA binding family member A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1564904 Mex3a mex-3 RNA binding family member A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1625811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1564904 Mex3a mex-3 RNA binding family member A gene DOID:1540 parathyroid carcinoma ISO RGD:1625811 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564904 Mex3a mex-3 RNA binding family member A gene DOID:5812 MHC class II deficiency ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1564904 Mex3a mex-3 RNA binding family member A gene DOID:630 genetic disease ISO RGD:1625811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564904 Mex3a mex-3 RNA binding family member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1625811 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564914 Socs5 suppressor of cytokine signaling 5 gene DOID:3883 Lynch syndrome ISO RGD:1346055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1564914 Socs5 suppressor of cytokine signaling 5 gene DOID:630 genetic disease ISO RGD:1346055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564921 Ppih peptidylprolyl isomerase H gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347300 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1564921 Ppih peptidylprolyl isomerase H gene DOID:630 genetic disease ISO RGD:1347300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564922 Sycp2l synaptonemal complex protein 2-like gene DOID:630 genetic disease ISO RGD:1604969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564923 Nxf3 nuclear RNA export factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354288 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564923 Nxf3 nuclear RNA export factor 3 gene DOID:12849 autistic disorder ISO RGD:1354288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564923 Nxf3 nuclear RNA export factor 3 gene DOID:630 genetic disease ISO RGD:1354288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564924 Lmod3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:7240710 20170329 OMIM 1564924 Lmod3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 10 PMID:17576681|PMID:25250574|PMID:25741868|PMID:28492532|PMID:28815944|PMID:30291184|PMID:30642739|PMID:31428121|PMID:9536098 1564924 Lmod3 leiomodin 3 gene DOID:630 genetic disease ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564925 Slc15a5 solute carrier family 15, member 5 gene DOID:630 genetic disease ISO RGD:2302456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564928 Ttc23l tetratricopeptide repeat domain 23-like gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 1564928 Ttc23l tetratricopeptide repeat domain 23-like gene DOID:630 genetic disease ISO RGD:1603175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564928 Ttc23l tetratricopeptide repeat domain 23-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603175 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564929 Tm2d3 TM2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564929 Tm2d3 TM2 domain containing 3 gene DOID:9255 frontotemporal dementia ISO RGD:1602099 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 1564936 Atp6ap1l ATPase H+ transporting accessory protein 1 like gene DOID:630 genetic disease ISO RGD:1603596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564936 Atp6ap1l ATPase H+ transporting accessory protein 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603596 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564936 Atp6ap1l ATPase H+ transporting accessory protein 1 like gene DOID:9008939 Breast Neoplasms ISO RGD:1603596 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:1059 intellectual disability ISO RGD:1345294 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:12704 ataxia telangiectasia ISO RGD:1345294 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345294 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1564937 Cfap68 cilia and flagella associated protein 68 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1564938 Dexi Dexi homolog gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1564938 Dexi Dexi homolog gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1564938 Dexi Dexi homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1564938 Dexi Dexi homolog gene DOID:630 genetic disease ISO RGD:1603056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564943 S100pbp S100P binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 1564943 S100pbp S100P binding protein gene DOID:630 genetic disease ISO RGD:1604319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564943 S100pbp S100P binding protein gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1604319 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 1564946 Ylpm1 YLP motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1351286 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1564946 Ylpm1 YLP motif containing 1 gene DOID:2661 myoepithelioma ISO RGD:1351286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1564946 Ylpm1 YLP motif containing 1 gene DOID:630 genetic disease ISO RGD:1351286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564947 Porcn porcupine O-acyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603972 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564947 Porcn porcupine O-acyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1564947 Porcn porcupine O-acyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1564947 Porcn porcupine O-acyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1564947 Porcn porcupine O-acyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1564947 Porcn porcupine O-acyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1564947 Porcn porcupine O-acyltransferase gene DOID:12849 autistic disorder ISO RGD:1603972 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564947 Porcn porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17546030|PMID:17546031 1564947 Porcn porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:7240710 20130221 OMIM 1564947 Porcn porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal dermal hypoplasia PMID:17546030|PMID:17546031|PMID:18325042|PMID:19277062|PMID:19309688|PMID:19586929|PMID:19863546|PMID:21484999|PMID:22888000|PMID:25640089|PMID:25741868|PMID:28492532|PMID:30022487|PMID:32141364 1564947 Porcn porcupine O-acyltransferase gene DOID:630 genetic disease ISO RGD:1603972 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546030|PMID:17546031|PMID:19277062|PMID:19309688|PMID:20854095|PMID:21484999|PMID:25640089|PMID:25741868|PMID:28492532 1564947 Porcn porcupine O-acyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1603972 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741874 1564948 Cfap251 cilia and flagella associated protein 251 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1606715 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:30122540 1564948 Cfap251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:7240710 20190315 OMIM 1564948 Cfap251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 33 PMID:30122540|PMID:30122541 1564948 Cfap251 cilia and flagella associated protein 251 gene DOID:630 genetic disease ISO RGD:1606715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564948 Cfap251 cilia and flagella associated protein 251 gene DOID:9001513 Asthenozoospermia ISO RGD:1606715 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: asthenozoospermia PMID:30122541 1564950 Fam184b family with sequence similarity 184, member B gene DOID:303 substance-related disorder ISO RGD:2301273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1564950 Fam184b family with sequence similarity 184, member B gene DOID:630 genetic disease ISO RGD:2301273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564952 Zranb3 zinc finger RANBP2-type containing 3 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1349256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 1564952 Zranb3 zinc finger RANBP2-type containing 3 gene DOID:630 genetic disease ISO RGD:1349256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564957 Sgip1 SH3GL interacting endocytic adaptor 1 gene DOID:1059 intellectual disability ISO RGD:1346308 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1564957 Sgip1 SH3GL interacting endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1346308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564960 Hormad1 HORMA domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1564960 Hormad1 HORMA domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1564960 Hormad1 HORMA domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1564960 Hormad1 HORMA domain containing 1 gene DOID:12336 male infertility ISO RGD:1346134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868 1564960 Hormad1 HORMA domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346134 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564960 Hormad1 HORMA domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1564960 Hormad1 HORMA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564960 Hormad1 HORMA domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346134 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564964 Phip pleckstrin homology domain interacting protein gene DOID:0050888 syndromic intellectual disability ISO RGD:1345138 D RGD:8554872 20171031 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 1564964 Phip pleckstrin homology domain interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1564964 Phip pleckstrin homology domain interacting protein gene DOID:1059 intellectual disability ISO RGD:1345138 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1564964 Phip pleckstrin homology domain interacting protein gene DOID:1059 intellectual disability ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020 1564964 Phip pleckstrin homology domain interacting protein gene DOID:12849 autistic disorder ISO RGD:1345138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 1564964 Phip pleckstrin homology domain interacting protein gene DOID:12894 Sjogren's syndrome ISO RGD:1345138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 1564964 Phip pleckstrin homology domain interacting protein gene DOID:630 genetic disease ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:33004838 1564964 Phip pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:7240710 20190315 OMIM 1564964 Phip pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-Related Disorder PMID:16199547|PMID:23033978|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020 1564964 Phip pleckstrin homology domain interacting protein gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 1564964 Phip pleckstrin homology domain interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345138 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1564964 Phip pleckstrin homology domain interacting protein gene DOID:9008582 Developmental Disease ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1564964 Phip pleckstrin homology domain interacting protein gene DOID:9269 maple syrup urine disease ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350026 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:1059 intellectual disability ISO RGD:1350026 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1350026 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:630 genetic disease ISO RGD:1350026 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350026 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475|PMID:29662167 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1564967 Zmym3 zinc finger MYM-type containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1350026 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24721225 1564975 Dct dopachrome tautomerase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342702 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1564975 Dct dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1342702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564975 Dct dopachrome tautomerase gene DOID:9001386 Albinism ISO RGD:1342702 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Albinism PMID:33100333 1564975 Dct dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:7240710 20210203 OMIM 1564975 Dct dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII PMID:33100333|PMID:33959807 1564975 Dct dopachrome tautomerase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342702 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1564976 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1564976 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:7240710 20130731 OMIM 1564976 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 PMID:12627228|PMID:16813530|PMID:25741868|PMID:28492532|PMID:28612835 1564976 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:13533 osteopetrosis ISO RGD:1345018 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Osteopetrosis 1564976 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1564978 Lrrc14b leucine rich repeat containing 14B gene DOID:630 genetic disease ISO RGD:3418715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564982 Vsig10l V-set and immunoglobulin domain containing 10 like gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:3440350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 1564982 Vsig10l V-set and immunoglobulin domain containing 10 like gene DOID:0080600 COVID-19 ISO RGD:3440350 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1564982 Vsig10l V-set and immunoglobulin domain containing 10 like gene DOID:630 genetic disease ISO RGD:3440350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564983 Lrrc10b leucine rich repeat containing 10B gene DOID:0050773 paraganglioma ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 1564983 Lrrc10b leucine rich repeat containing 10B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1564983 Lrrc10b leucine rich repeat containing 10B gene DOID:1059 intellectual disability ISO RGD:3208116 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564983 Lrrc10b leucine rich repeat containing 10B gene DOID:630 genetic disease ISO RGD:3208116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564983 Lrrc10b leucine rich repeat containing 10B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 1564984 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:0110112 atrial heart septal defect 7 ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 1564984 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:10908 hydrocephalus ISO RGD:2303667 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 1564984 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:630 genetic disease ISO RGD:2303667 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564984 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 1564985 Kcnk5 potassium two pore domain channel subfamily K member 5 gene DOID:1824 status epilepticus ISO RGD:1345390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19220408 1564985 Kcnk5 potassium two pore domain channel subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1345390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564987 Tbc1d22b TBC1 domain family, member 22B gene DOID:630 genetic disease ISO RGD:1353872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564990 Gorab golgin, RAB6-interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 1564990 Gorab golgin, RAB6-interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:7240710 20130221 OMIM 1564990 Gorab golgin, RAB6-interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Geroderma osteodysplastica PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:31829210|PMID:631850 1564990 Gorab golgin, RAB6-interacting gene DOID:11476 osteoporosis ISO RGD:1603372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 1564990 Gorab golgin, RAB6-interacting gene DOID:1540 parathyroid carcinoma ISO RGD:1603372 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1564990 Gorab golgin, RAB6-interacting gene DOID:630 genetic disease ISO RGD:1603372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18997784|PMID:19681135|PMID:28492532|PMID:28807865 1564990 Gorab golgin, RAB6-interacting gene DOID:9001946 Skin Abnormalities ISO RGD:1603372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 1564990 Gorab golgin, RAB6-interacting gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603372 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1564990 Gorab golgin, RAB6-interacting gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603372 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343263 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1343263 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:1059 intellectual disability ISO RGD:1343263 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:2746 glycogen storage disease V ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1343263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1564991 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1564993 Med27 mediator complex subunit 27 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1564993 Med27 mediator complex subunit 27 gene DOID:1059 intellectual disability ISO RGD:1349942 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Intellectual disability 1564993 Med27 mediator complex subunit 27 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349942 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1564993 Med27 mediator complex subunit 27 gene DOID:630 genetic disease ISO RGD:1349942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564993 Med27 mediator complex subunit 27 gene DOID:9003448 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ISO RGD:1349942 D RGD:7240710 20210519 OMIM 1564993 Med27 mediator complex subunit 27 gene DOID:9003448 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ISO RGD:1349942 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia PMID:33443317 1564994 Fam110d family with sequence similarity 110, member D gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1602464 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1564994 Fam110d family with sequence similarity 110, member D gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1564994 Fam110d family with sequence similarity 110, member D gene DOID:630 genetic disease ISO RGD:1602464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:1826 epilepsy ISO RGD:1344271 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:1909 melanoma ISO RGD:1344271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17187358 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:5419 schizophrenia ISO RGD:1344271 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:607 paraplegia ISO RGD:1344271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:630 genetic disease ISO RGD:1344271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1564996 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1344271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 1565000 Fabp12 fatty acid binding protein 12 gene DOID:630 genetic disease ISO RGD:2302158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565002 Dhrs7 dehydrogenase/reductase 7 gene DOID:630 genetic disease ISO RGD:1317573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565002 Dhrs7 dehydrogenase/reductase 7 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317573 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 1565002 Dhrs7 dehydrogenase/reductase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565002 Dhrs7 dehydrogenase/reductase 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1565002 Dhrs7 dehydrogenase/reductase 7 gene DOID:9452 fatty liver disease ISO RGD:1317573 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1601869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838196 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:7240710 20161012 OMIM 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:9536098 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1601869 D RGD:11554173 20170131 CTD CTD Direct Evidence: marker/mechanism 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1601869 D RGD:11554173 20200121 CTD CTD Direct Evidence: marker/mechanism 1565003 Retreg1 reticulophagy regulator 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1601869 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:28492532 1565003 Retreg1 reticulophagy regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532 1565003 Retreg1 reticulophagy regulator 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1601869 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868 1565003 Retreg1 reticulophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19838196|PMID:25741868|PMID:28492532 1565003 Retreg1 reticulophagy regulator 1 gene DOID:9003855 Vesicoureteral Reflux 5 ISO RGD:12057336 D RGD:9068941 20210820 OMIA Neuropathy, sensory, RETREG1-related PMID:15971901|PMID:16266014|PMID:23123885|PMID:27527794|PMID:30307654|PMID:30955094|PMID:34387380|PMID:6295050 1565003 Retreg1 reticulophagy regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601869 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565004 Poc1a POC1 centriolar protein A gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532 1565004 Poc1a POC1 centriolar protein A gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1353956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1565004 Poc1a POC1 centriolar protein A gene DOID:10907 microcephaly ISO RGD:1353956 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1565004 Poc1a POC1 centriolar protein A gene DOID:630 genetic disease ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565004 Poc1a POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:7240710 20140911 OMIM 1565004 Poc1a POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis PMID:18414213|PMID:22440536|PMID:22840363|PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532|PMID:30569574 1565005 Wdr43 WD repeat domain 43 gene DOID:630 genetic disease ISO RGD:1344839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565005 Wdr43 WD repeat domain 43 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1344839 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 1565006 Efcab11 EF-hand calcium binding domain 11 gene DOID:630 genetic disease ISO RGD:1343471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565007 Fhip1a FHF complex subunit HOOK interacting protein 1A gene DOID:0080600 COVID-19 ISO RGD:2293812 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565007 Fhip1a FHF complex subunit HOOK interacting protein 1A gene DOID:630 genetic disease ISO RGD:2293812 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565007 Fhip1a FHF complex subunit HOOK interacting protein 1A gene DOID:9002189 High Myopia ISO RGD:2293812 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1565015 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 1565015 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350069 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565015 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1350069 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565015 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1558623 D RGD:1582491|PMID:12496958 20061110 RGD 1565015 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1350069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565015 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1565016 Celf5 CUGBP, Elav-like family member 5 gene DOID:630 genetic disease ISO RGD:1345217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565016 Celf5 CUGBP, Elav-like family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345217 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565018 Crip3 cysteine-rich protein 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1565018 Crip3 cysteine-rich protein 3 gene DOID:630 genetic disease ISO RGD:1343897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565018 Crip3 cysteine-rich protein 3 gene DOID:905 Zellweger syndrome ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:3652 Leigh disease ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:630 genetic disease ISO RGD:1321992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:7240710 20230505 OMIM 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12 PMID:25741868|PMID:36283405 1565022 Camsap1 calmodulin regulated spectrin-associated protein 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1565023 Ecd ecdysoneless cell cycle regulator gene DOID:630 genetic disease ISO RGD:1604642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:1059 intellectual disability ISO RGD:1604643 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:2746 glycogen storage disease V ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:3070 high grade glioma ISO RGD:1604643 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:630 genetic disease ISO RGD:1604643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604643 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1565025 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0060071 pre-malignant neoplasm IEP D RGD:9586726|PMID:16497704 20141002 RGD 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348120 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348120 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348120 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1348120 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:3070 high grade glioma ISO RGD:1348120 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Ependymoma 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1348120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:9004203 Chromosome Breakage ISO RGD:1348120 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348120 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1565028 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:9586740|PMID:24752040 20141003 RGD associated with Diabetes Mellitus, Experimental 1565029 Zfp329 zinc finger protein 329 gene DOID:630 genetic disease ISO RGD:1348045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:0050589 inflammatory bowel disease ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:12849 autistic disorder ISO RGD:1604289 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:1540 parathyroid carcinoma ISO RGD:1604289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:630 genetic disease ISO RGD:1604289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1565034 C13h1orf116 similar to human chromosome 1 open reading frame 116 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604289 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565035 Crb3 crumbs cell polarity complex component 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1348954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1565035 Crb3 crumbs cell polarity complex component 3 gene DOID:630 genetic disease ISO RGD:1348954 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565037 Selenom selenoprotein M gene DOID:630 genetic disease ISO RGD:1603181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565037 Selenom selenoprotein M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:0060041 autism spectrum disorder ISS RGD:1623777 D RGD:13592920 20190425 MouseDO 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:15024724|PMID:28116333|PMID:28492532 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:423 myopathy ISO RGD:1346816 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:630 genetic disease ISO RGD:1346816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:7319 axonal neuropathy ISO RGD:1346816 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:7240710 20130731 OMIM 1565043 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity PMID:14508709|PMID:21719701|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532|PMID:29653320|PMID:9678704 1565049 Zfp1 zinc finger protein 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1351790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 1565049 Zfp1 zinc finger protein 1 gene DOID:607 paraplegia ISO RGD:1351790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1565049 Zfp1 zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1351790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565052 Lrrc34 leucine rich repeat containing 34 gene DOID:0050777 Joubert syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1565052 Lrrc34 leucine rich repeat containing 34 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1604227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 1565052 Lrrc34 leucine rich repeat containing 34 gene DOID:1062 Fanconi syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1565052 Lrrc34 leucine rich repeat containing 34 gene DOID:630 genetic disease ISO RGD:1604227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565053 Acd ACD, shelterin complex subunit and telomerase recruitment factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1351362 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 1565053 Acd ACD, shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:7240710 20151111 OMIM 1565053 Acd ACD, shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:16199547|PMID:17576681|PMID:25205116|PMID:25233904|PMID:25505254|PMID:25741868|PMID:27807141|PMID:28492532|PMID:29843741|PMID:29891727|PMID:30064976|PMID:31515401|PMID:32325837|PMID:33822766|PMID:9536098 1565053 Acd ACD, shelterin complex subunit and telomerase recruitment factor gene DOID:0111984 immunodeficiency 58 ISO RGD:1351362 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:25741868 1565053 Acd ACD, shelterin complex subunit and telomerase recruitment factor gene DOID:630 genetic disease ISO RGD:1351362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29843741|PMID:31515401|PMID:9536098 1565053 Acd ACD, shelterin complex subunit and telomerase recruitment factor gene DOID:9008958 Autosomal Recessive Dyskeratosis Congenita 7 ISO RGD:1351362 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 PMID:25205116|PMID:25233904|PMID:25741868|PMID:27807141|PMID:28492532|PMID:31515401|PMID:33822766 1565055 Scrib scribble planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1321471 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 1565055 Scrib scribble planar cell polarity protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1565055 Scrib scribble planar cell polarity protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1565055 Scrib scribble planar cell polarity protein gene DOID:10907 microcephaly ISO RGD:1321471 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1565055 Scrib scribble planar cell polarity protein gene DOID:4621 holoprosencephaly ISO RGD:1321471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1565055 Scrib scribble planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1321471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565059 C2h3orf33 similar to human chromosome 3 open reading frame 33 gene DOID:630 genetic disease ISO RGD:1605242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565061 Spem2 SPEM family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1565061 Spem2 SPEM family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1565061 Spem2 SPEM family member 2 gene DOID:1059 intellectual disability ISO RGD:1604207 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1565061 Spem2 SPEM family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1604207 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1565061 Spem2 SPEM family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1604207 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1565061 Spem2 SPEM family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1565061 Spem2 SPEM family member 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604207 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1565062 Spag16 sperm associated antigen 16 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1352269 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1565062 Spag16 sperm associated antigen 16 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1352269 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1565062 Spag16 sperm associated antigen 16 gene DOID:630 genetic disease ISO RGD:1352269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565062 Spag16 sperm associated antigen 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352269 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565064 Serac1 serine active site containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1349770 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266 1565064 Serac1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:7240710 20140903 OMIM 1565064 Serac1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:16199547|PMID:17576681|PMID:22683713|PMID:23707711|PMID:24033266|PMID:24997715|PMID:25016221|PMID:25741868|PMID:26863999|PMID:27604308|PMID:28482397|PMID:28492532|PMID:28778788|PMID:28916646|PMID:29205472|PMID:31251474|PMID:32005694|PMID:32313153|PMID:33431980|PMID:33613893|PMID:9536098 1565064 Serac1 serine active site containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1565064 Serac1 serine active site containing 1 gene DOID:1826 epilepsy ISO RGD:1349770 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1565064 Serac1 serine active site containing 1 gene DOID:3146 lipid metabolism disorder ISO RGD:1349770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 1565064 Serac1 serine active site containing 1 gene DOID:543 dystonia ISO RGD:1349770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 1565064 Serac1 serine active site containing 1 gene DOID:630 genetic disease ISO RGD:1349770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33431980|PMID:9536098 1565064 Serac1 serine active site containing 1 gene DOID:9008681 Deafness ISO RGD:1349770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 1565065 Ifne interferon, epsilon gene DOID:5419 schizophrenia ISO RGD:1606106 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565065 Ifne interferon, epsilon gene DOID:630 genetic disease ISO RGD:1606106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565067 Shld2 shieldin complex subunit 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1354134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1565067 Shld2 shieldin complex subunit 2 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:1354134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:25741868|PMID:26467025|PMID:28492532 1565067 Shld2 shieldin complex subunit 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1354134 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1565067 Shld2 shieldin complex subunit 2 gene DOID:2018 hyperinsulinism ISO RGD:1354134 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant 1565067 Shld2 shieldin complex subunit 2 gene DOID:630 genetic disease ISO RGD:1354134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565067 Shld2 shieldin complex subunit 2 gene DOID:9351 diabetes mellitus ISO RGD:1354134 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 1565073 Hist2h4a histone cluster 2 H4 family member A gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347367 D RGD:11554173 20190122 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1565078 Zc3h12c zinc finger CCCH type containing 12C gene DOID:0110034 X-linked Alport syndrome ISO RGD:1602083 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868 1565078 Zc3h12c zinc finger CCCH type containing 12C gene DOID:1059 intellectual disability ISO RGD:1602083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565078 Zc3h12c zinc finger CCCH type containing 12C gene DOID:12704 ataxia telangiectasia ISO RGD:1602083 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1565078 Zc3h12c zinc finger CCCH type containing 12C gene DOID:630 genetic disease ISO RGD:1602083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565078 Zc3h12c zinc finger CCCH type containing 12C gene DOID:8893 psoriasis ISO RGD:1602083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 1565078 Zc3h12c zinc finger CCCH type containing 12C gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602083 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1565079 Tlcd5 TLC domain containing 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:0080690 RASopathy ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1565079 Tlcd5 TLC domain containing 5 gene DOID:13641 exfoliation syndrome ISO RGD:1603164 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 1565079 Tlcd5 TLC domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1603164 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565079 Tlcd5 TLC domain containing 5 gene DOID:630 genetic disease ISO RGD:1603164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565079 Tlcd5 TLC domain containing 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603164 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1565079 Tlcd5 TLC domain containing 5 gene DOID:9007661 Dwarfism ISO RGD:1603164 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1565082 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0080054 achondrogenesis type IA ISO RGD:1351142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1565082 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:1351142 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 1565082 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:630 genetic disease ISO RGD:1351142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565082 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351142 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:0070297 primary microcephaly ISO RGD:1343596 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:7240710 20201202 OMIM 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 45 PMID:25741868|PMID:30811583 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343596 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1565087 Dnah2 dynein, axonemal, heavy chain 2 gene DOID:630 genetic disease ISO RGD:1343596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565090 Hmgcll1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 gene DOID:630 genetic disease ISO RGD:1352812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565091 Hunk hormonally upregulated Neu-associated kinase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1565091 Hunk hormonally upregulated Neu-associated kinase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1344314 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1565091 Hunk hormonally upregulated Neu-associated kinase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1565091 Hunk hormonally upregulated Neu-associated kinase gene DOID:630 genetic disease ISO RGD:1344314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565095 Coa5 cytochrome C oxidase assembly factor 5 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1604134 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1565095 Coa5 cytochrome C oxidase assembly factor 5 gene DOID:0080359 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 ISO RGD:1604134 D RGD:7240710 20170301 OMIM 1565095 Coa5 cytochrome C oxidase assembly factor 5 gene DOID:0080359 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 ISO RGD:1604134 D RGD:8554872 20170228 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PMID:21457908 1565095 Coa5 cytochrome C oxidase assembly factor 5 gene DOID:630 genetic disease ISO RGD:1604134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565096 Knop1 lysine-rich nucleolar protein 1 gene DOID:630 genetic disease ISO RGD:1606640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565098 Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1565098 Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1320683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1565098 Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1320683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565099 Klf13 KLF transcription factor 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 1565099 Klf13 KLF transcription factor 13 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344641 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 1565099 Klf13 KLF transcription factor 13 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344641 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 1565099 Klf13 KLF transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1344641 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565099 Klf13 KLF transcription factor 13 gene DOID:1682 congenital heart disease ISO RGD:1344641 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital heart disease 1565099 Klf13 KLF transcription factor 13 gene DOID:289 endometriosis ISO RGD:1344641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 1565099 Klf13 KLF transcription factor 13 gene DOID:5419 schizophrenia ISO RGD:1344641 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565099 Klf13 KLF transcription factor 13 gene DOID:5844 myocardial infarction ISO RGD:1344641 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 1565099 Klf13 KLF transcription factor 13 gene DOID:630 genetic disease ISO RGD:1344641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565099 Klf13 KLF transcription factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344641 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565099 Klf13 KLF transcription factor 13 gene DOID:9256 colorectal cancer ISO RGD:1344641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 1565100 Alpg alkaline phosphatase, germ cell gene DOID:0060476 Perlman syndrome ISO RGD:1347925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1565100 Alpg alkaline phosphatase, germ cell gene DOID:0110991 Joubert syndrome 22 ISO RGD:1347925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1565100 Alpg alkaline phosphatase, germ cell gene DOID:630 genetic disease ISO RGD:1347925 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565100 Alpg alkaline phosphatase, germ cell gene DOID:9003281 Spontaneous Abortions ISO RGD:1347925 D RGD:11554173 20170829 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1565101 Foxj2 forkhead box J2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1565101 Foxj2 forkhead box J2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344904 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 1565101 Foxj2 forkhead box J2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344904 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 1565101 Foxj2 forkhead box J2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 1565101 Foxj2 forkhead box J2 gene DOID:0111621 Temtamy syndrome ISO RGD:1344904 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 1565101 Foxj2 forkhead box J2 gene DOID:630 genetic disease ISO RGD:1344904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565101 Foxj2 forkhead box J2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344904 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1565105 Serf1 small EDRK-rich factor 1 gene DOID:13938 amenorrhea ISO RGD:1350108 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1565105 Serf1 small EDRK-rich factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350108 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565106 Rpl12 ribosomal protein L12 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1565106 Rpl12 ribosomal protein L12 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1314871 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1565106 Rpl12 ribosomal protein L12 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1565106 Rpl12 ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1314871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565106 Rpl12 ribosomal protein L12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1565106 Rpl12 ribosomal protein L12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314871 D RGD:11035232|PMID:11161982 20160211 RGD 1565111 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606441 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565111 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:10140 dry eye syndrome ISS RGD:1558296 D RGD:13592920 20210819 MouseDO 1565111 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1606441 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565111 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565118 Ablim3 actin binding LIM protein family, member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565118 Ablim3 actin binding LIM protein family, member 3 gene DOID:630 genetic disease ISO RGD:1354406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565118 Ablim3 actin binding LIM protein family, member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565118 Ablim3 actin binding LIM protein family, member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354406 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565118 Ablim3 actin binding LIM protein family, member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565120 Bsx brain specific homeobox gene DOID:5419 schizophrenia ISO RGD:1626189 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565120 Bsx brain specific homeobox gene DOID:630 genetic disease ISO RGD:1626189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565120 Bsx brain specific homeobox gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1626189 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1565120 Bsx brain specific homeobox gene DOID:9007661 Dwarfism ISO RGD:1626189 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050777 Joubert syndrome ISO RGD:1344161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1344161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258341 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:7240710 20140903 OMIM 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:33532864|PMID:9536098 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:27491411|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111112 nephronophthisis 1 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111113 nephronophthisis 2 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:16199547|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:7240710 20140911 OMIM 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864|PMID:9536098 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:1184 nephrotic syndrome ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:32173348|PMID:33532864 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:12712 nephronophthisis ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549|PMID:30655312 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:2975 cystic kidney disease ISS RGD:1557198 D RGD:13592920 20190117 MouseDO 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:303 substance-related disorder ISO RGD:1344161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:557 kidney disease ISO RGD:1344161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258341 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:630 genetic disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:26489029|PMID:28492532 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:784 chronic kidney disease ISO RGD:1344161 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:8501 fundus dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 1565122 Ttc21b tetratricopeptide repeat domain 21B gene DOID:9249 Beemer-Langer syndrome ISO RGD:1344161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345059 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:17576681|PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532|PMID:28714225|PMID:32244552|PMID:9536098 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:7240710 20130425 OMIM 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 2 PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11462235|PMID:11826029|PMID:11992260|PMID:12037013|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:17576681|PMID:17724181|PMID:18376416|PMID:20021257|PMID:20106869|PMID:20625056|PMID:20669900|PMID:20729296|PMID:21738648|PMID:22072390|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:32244552|PMID:33546218|PMID:34008892|PMID:34906488|PMID:9536098|PMID:9697692 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:1599605|PMID:10937588 20070208 RGD 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:11612 polycystic ovary syndrome ISO RGD:1345059 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:12849 autistic disorder ISO RGD:1345059 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:14791 Leber congenital amaurosis ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:9536098 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:630 genetic disease ISO RGD:1345059 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:8501 fundus dystrophy ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10053026|PMID:10090907|PMID:10520237|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:18376416|PMID:18552978|PMID:20021257|PMID:20625056|PMID:20669900|PMID:21738648|PMID:22072390|PMID:23150612|PMID:24940031|PMID:25097241|PMID:25133751|PMID:25356976|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30718709|PMID:31456290|PMID:32244552|PMID:32875684|PMID:9697692 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345059 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1345059 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 1565124 Rp2 RP2 activator of ARL3 GTPase gene DOID:9008296 Eye Abnormalities ISO RGD:1345059 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 1565126 Atp10b ATPase phospholipid transporting 10B (putative) gene DOID:13938 amenorrhea ISO RGD:1345428 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1565126 Atp10b ATPase phospholipid transporting 10B (putative) gene DOID:630 genetic disease ISO RGD:1345428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350620 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:12849 autistic disorder ISO RGD:1350620 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:630 genetic disease ISO RGD:1350620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350620 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565132 Trmt2b tRNA methyltransferase 2 homolog B gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1565135 Rnf216 ring finger protein 216 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1604006 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:26822237|PMID:27626068 1565135 Rnf216 ring finger protein 216 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604006 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25558065 1565135 Rnf216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:7240710 20141015 OMIM 1565135 Rnf216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome PMID:11932290|PMID:23656588|PMID:25741868|PMID:25841028|PMID:28492532|PMID:32982993 1565135 Rnf216 ring finger protein 216 gene DOID:630 genetic disease ISO RGD:1604006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565140 Clec7a C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1565140 Clec7a C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:7240710 20230517 OMIM 1565140 Clec7a C-type lectin domain containing 7A gene DOID:13564 aspergillosis ISO RGD:1350458 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:19864674|PMID:20807886|PMID:24033266|PMID:25741868 1565140 Clec7a C-type lectin domain containing 7A gene DOID:630 genetic disease ISO RGD:1350458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565140 Clec7a C-type lectin domain containing 7A gene DOID:9004055 Fungal Keratitis ISO RGD:1558559 D RGD:11526921|PMID:26963514 20210525 RGD mRNA:increased expression:cornea 1565140 Clec7a C-type lectin domain containing 7A gene DOID:9004055 Fungal Keratitis treatment ISO RGD:1558559 D RGD:11526921|PMID:26963514 20210525 RGD 1565140 Clec7a C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1565140 Clec7a C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:7240710 20230517 OMIM 1565140 Clec7a C-type lectin domain containing 7A gene DOID:9009037 Candidiasis, Familial, 4 ISO RGD:1350458 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis PMID:19864674|PMID:20807886|PMID:24033266|PMID:25741868|PMID:28492532 1565144 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1565144 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:630 genetic disease ISO RGD:1344833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565144 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344833 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1565144 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:9270 alkaptonuria ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1565145 Gadl1 glutamate decarboxylase-like 1 gene DOID:13938 amenorrhea ISO RGD:1351528 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1565145 Gadl1 glutamate decarboxylase-like 1 gene DOID:630 genetic disease ISO RGD:1351528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565145 Gadl1 glutamate decarboxylase-like 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1351528 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:0080422 Dravet syndrome ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:1318809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:22279524|PMID:23035047|PMID:28492532 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1318809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:28492532 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:1059 intellectual disability ISO RGD:1318809 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26467025|PMID:28492532 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:1826 epilepsy ISO RGD:1318809 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:630 genetic disease ISO RGD:1318809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:30552426|PMID:31345272|PMID:32565546|PMID:32964447|PMID:9536098 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:7240710 20140911 OMIM 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25319849|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:29431110|PMID:29997391|PMID:30346566|PMID:30552426|PMID:31345272|PMID:31618474|PMID:31868227|PMID:32139178|PMID:32565546|PMID:32964447|PMID:9536098 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:7240710 20190315 OMIM 1565146 Brat1 BRCA1-associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:16452482|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:30552426|PMID:31345272|PMID:32964447 1565147 Naaladl2 N-acetylated alpha-linked acidic dipeptidase-like 2 gene DOID:630 genetic disease ISO RGD:1606935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565148 Pwwp3b PWWP domain containing 3B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349980 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565148 Pwwp3b PWWP domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1349980 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565148 Pwwp3b PWWP domain containing 3B gene DOID:630 genetic disease ISO RGD:1349980 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565149 Vps9d1 VPS9 domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1565149 Vps9d1 VPS9 domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1352238 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1565149 Vps9d1 VPS9 domain containing 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1352238 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 1565149 Vps9d1 VPS9 domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1565149 Vps9d1 VPS9 domain containing 1 gene DOID:14780 KBG syndrome ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 1565149 Vps9d1 VPS9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1345456 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1345456 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1345456 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1345456 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565152 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:870 neuropathy ISO RGD:1345456 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 1565155 Tuba3b tubulin, alpha 3B gene DOID:630 genetic disease ISO RGD:1606186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565155 Tuba3b tubulin, alpha 3B gene DOID:684 hepatocellular carcinoma ISO RGD:1606186 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 1565155 Tuba3b tubulin, alpha 3B gene DOID:9003415 Keratoconus 9 ISO RGD:1606186 D RGD:7240710 20190315 OMIM 1565155 Tuba3b tubulin, alpha 3B gene DOID:9003415 Keratoconus 9 ISO RGD:1606186 D RGD:8554872 20180522 ClinVar ClinVar Annotator: match by term: Keratoconus 9 PMID:29051577 1565160 Mypop Myb-related transcription factor, partner of profilin gene DOID:630 genetic disease ISO RGD:1606912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565161 Cd300c CD300c molecule gene DOID:630 genetic disease ISO RGD:1349208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565163 Shroom2 shroom family member 2 gene DOID:12849 autistic disorder ISO RGD:1343092 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565163 Shroom2 shroom family member 2 gene DOID:630 genetic disease ISO RGD:1343092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565163 Shroom2 shroom family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343092 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565163 Shroom2 shroom family member 2 gene DOID:9849 Meniere's disease ISO RGD:1343092 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868 1565166 RGD1565166 similar to MGC45438 protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1602067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 1565166 RGD1565166 similar to MGC45438 protein gene DOID:630 genetic disease ISO RGD:1602067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565168 Diras3 DIRAS family GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1343615 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1565168 Diras3 DIRAS family GTPase 3 gene DOID:630 genetic disease ISO RGD:1343615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565168 Diras3 DIRAS family GTPase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343615 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1565169 Apobr apolipoprotein B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1607021 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1565169 Apobr apolipoprotein B receptor gene DOID:5419 schizophrenia ISO RGD:1607021 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565169 Apobr apolipoprotein B receptor gene DOID:630 genetic disease ISO RGD:1607021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1349240 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss PMID:25741868|PMID:33111345 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:0050902 medulloblastoma ISO RGD:1349240 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1349240 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1349240 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:7240710 20230505 OMIM 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 89 PMID:25741868|PMID:33111345 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1349240 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:25741868 1565171 Atoh1 atonal bHLH transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349240 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1565175 Treml1 triggering receptor expressed on myeloid cells-like 1 gene DOID:630 genetic disease ISO RGD:1344660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565175 Treml1 triggering receptor expressed on myeloid cells-like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1565177 Defb20 defensin beta 20 gene DOID:630 genetic disease ISO RGD:1352295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565177 Defb20 defensin beta 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352295 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565179 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:2234 focal epilepsy ISO RGD:1353084 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1565179 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1353084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565179 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353084 D RGD:27372884|PMID:30136646 20200529 RGD 1565179 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1353084 D RGD:27372885|PMID:27329586 20200529 RGD 1565180 Crtap cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:7240710 20211222 OMIM 1565180 Crtap cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:12110406|PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:23054245|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:27509835|PMID:28116328|PMID:28492532|PMID:31742715|PMID:32922437|PMID:9536098 1565180 Crtap cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:18566967 1565180 Crtap cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532 1565180 Crtap cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532 1565180 Crtap cartilage associated protein gene DOID:630 genetic disease ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565180 Crtap cartilage associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320245 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565181 Usp34 ubiquitin specific peptidase 34 gene DOID:0060224 atrial fibrillation ISO RGD:1318847 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 1565181 Usp34 ubiquitin specific peptidase 34 gene DOID:0060415 chromosome 2p16.1-p15 deletion syndrome ISO RGD:1318847 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome 1565181 Usp34 ubiquitin specific peptidase 34 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1318847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 1565181 Usp34 ubiquitin specific peptidase 34 gene DOID:5419 schizophrenia ISO RGD:1318847 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565181 Usp34 ubiquitin specific peptidase 34 gene DOID:630 genetic disease ISO RGD:1318847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0050651 atrioventricular septal defect ISS RGD:1614795 D RGD:13592920 20180518 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0050778 Meckel syndrome ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18414213|PMID:19466712|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28492532|PMID:28497568|PMID:30902645|PMID:34008892|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0050778 Meckel syndrome ISS RGD:1614795 D RGD:13592920 20180518 MouseDO 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0050952 spastic ataxia ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:11063991|PMID:17397051 20160920 RGD DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:11535074|PMID:17935508 20160920 RGD DNA:deletion:intron:IVS15-7_35del (human) 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:11535078|PMID:23351400 20160920 RGD DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:7240710 20130221 OMIM 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1614795 D RGD:11535065|PMID:21045211 20160920 RGD DNA:deletion 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1614795 D RGD:11535068|PMID:19776033 20160920 RGD DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1352123 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:7240710 20171011 OMIM 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28981474|PMID:30076350|PMID:30718709|PMID:31456290|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:30902645|PMID:34008892 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:7240710 20190315 OMIM 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19466712|PMID:20301500|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30902645|PMID:31456290|PMID:34008892|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352123 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1352123 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1352123 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:1148 polydactyly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:18327255|PMID:20301500|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:34008892 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:11070512|PMID:18327255 20160920 RGD DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human) 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18327255 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18327255|PMID:25741868|PMID:28492532|PMID:31456290 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:630 genetic disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:28771248|PMID:34582790|PMID:9536098 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:6419 tetralogy of Fallot ISS RGD:1614795 D RGD:13592920 20180518 MouseDO OMIM:187500 1565186 Mks1 MKS transition zone complex subunit 1 gene DOID:870 neuropathy ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 1565187 Kif9 kinesin family member 9 gene DOID:630 genetic disease ISO RGD:1313687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565187 Kif9 kinesin family member 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1565187 Kif9 kinesin family member 9 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351228 D RGD:11554032|PMID:11940089 20161019 RGD DNA:missense mutation:cds:p.P312L (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351228 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 PMID:25741868|PMID:28492532 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1351228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0111824 Aarskog syndrome ISO RGD:1351228 D RGD:11554173 20200526 CTD CTD Direct Evidence: marker/mechanism PMID:7954831|PMID:10930571|PMID:11093277|PMID:14560308|PMID:15327482|PMID:17152066 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0111824 Aarskog syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:10930571|PMID:11093277|PMID:11940089|PMID:14560308|PMID:15809997|PMID:16353258|PMID:16688726|PMID:17152066|PMID:17847065|PMID:20082460|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27959697|PMID:28492532|PMID:29276006|PMID:4146757|PMID:7954831 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1351228 D RGD:11554027|PMID:19141649 20161019 RGD protein:increased expression:prostate gland (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1351228 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:11940089|PMID:25741868|PMID:28492532 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15809997 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351228 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1351228 D RGD:11554027|PMID:19141649 20161019 RGD protein:increased expression:breast (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11093277|PMID:11940089|PMID:17847065|PMID:19261807|PMID:20082460|PMID:21739585|PMID:23211637|PMID:23375260|PMID:24033266|PMID:25046119|PMID:25741868|PMID:26029706|PMID:26467025|PMID:27959697|PMID:28492532|PMID:8969170 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:11554024|PMID:7954831 20161019 RGD DNA:insertion:cds:c.2121_2122insG (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:11554029|PMID:20082460 20161019 RGD DNA:mutations:multiple (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:11554030|PMID:23211637 20161019 RGD DNA:nonsense mutation:cds:p.W447X (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:11554031|PMID:16353258 20161019 RGD DNA:deletion:cds:c.2189delA (human) 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:7240710 20130221 OMIM 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7954831|PMID:10930571|PMID:11093277 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006257 Growth Disorders ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7954831|PMID:10930571|PMID:11093277|PMID:11940089 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11093277 1565188 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7954831 1565192 Smim20 small integral membrane protein 20 gene DOID:630 genetic disease ISO RGD:3418804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565194 Cntnap5b contactin associated protein family member 5B gene DOID:630 genetic disease ISO RGD:1313519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565196 Rdh14 retinol dehydrogenase 14 gene DOID:1059 intellectual disability ISO RGD:1320191 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565196 Rdh14 retinol dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1320191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565197 Ntn5 netrin 5 gene DOID:630 genetic disease ISO RGD:1606977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565206 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:10283 prostate cancer ISO RGD:1606151 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1565206 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:2717 Bloom syndrome ISO RGD:1606151 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1565206 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:630 genetic disease ISO RGD:1606151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565206 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:9256 colorectal cancer ISO RGD:1606151 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1565210 Tmem238 transmembrane protein 238 gene DOID:630 genetic disease ISO RGD:5488447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565211 Trmt13 tRNA methyltransferase 13 homolog gene DOID:630 genetic disease ISO RGD:1604003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565211 Trmt13 tRNA methyltransferase 13 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1604003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1565212 C15h8orf74 similar to human chromosome 8 open reading frame 74 gene DOID:630 genetic disease ISO RGD:1606427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565212 C15h8orf74 similar to human chromosome 8 open reading frame 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606427 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565213 Catsper4 cation channel, sperm associated 4 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1350186 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1565213 Catsper4 cation channel, sperm associated 4 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1565213 Catsper4 cation channel, sperm associated 4 gene DOID:630 genetic disease ISO RGD:1350186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565216 Adgrf4 adhesion G protein-coupled receptor F4 gene DOID:5419 schizophrenia ISO RGD:1315496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1565216 Adgrf4 adhesion G protein-coupled receptor F4 gene DOID:630 genetic disease ISO RGD:1315496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565217 Ccno cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:7240710 20171011 OMIM 1565217 Ccno cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 PMID:24747639|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523 1565217 Ccno cyclin O gene DOID:2320 obstructive lung disease ISO RGD:1346890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747639 1565217 Ccno cyclin O gene DOID:630 genetic disease ISO RGD:1346890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565217 Ccno cyclin O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346890 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565217 Ccno cyclin O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24747639|PMID:25741868|PMID:26139845|PMID:26777464|PMID:28492532|PMID:30067075|PMID:31650533|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523|PMID:9536098 1565218 Klhl3 kelch-like family member 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:24033266|PMID:25741868|PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:1969 cerebral palsy ISO RGD:1346820 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1565218 Klhl3 kelch-like family member 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1346820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22406640 1565218 Klhl3 kelch-like family member 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938|PMID:22406640|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:630 genetic disease ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24641320|PMID:25741868|PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:7240710 20140911 OMIM 1565218 Klhl3 kelch-like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION PMID:22266938|PMID:22406640|PMID:24033266|PMID:24821705|PMID:25741868|PMID:25741906|PMID:25925082|PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938|PMID:22406640|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 1565218 Klhl3 kelch-like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346820 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565218 Klhl3 kelch-like family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565220 Gfral GDNF family receptor alpha like gene DOID:630 genetic disease ISO RGD:1604920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565222 RGD1565222 similar to RIKEN cDNA 4931414P19 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1565222 RGD1565222 similar to RIKEN cDNA 4931414P19 gene DOID:630 genetic disease ISO RGD:1348927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565222 RGD1565222 similar to RIKEN cDNA 4931414P19 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348927 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1565222 RGD1565222 similar to RIKEN cDNA 4931414P19 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348927 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602655 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:5812 MHC class II deficiency ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1602655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565234 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602655 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565236 Pax5 paired box 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1565236 Pax5 paired box 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1565236 Pax5 paired box 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352156 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24013638|PMID:30643249 1565236 Pax5 paired box 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1565236 Pax5 paired box 5 gene DOID:630 genetic disease ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35094443 1565236 Pax5 paired box 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352156 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1565236 Pax5 paired box 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:35094443 1565236 Pax5 paired box 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1565236 Pax5 paired box 5 gene DOID:9870 galactosemia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1565236 Pax5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352156 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 1565236 Pax5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 PMID:24013638|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30643249|PMID:35094443 1565236 Pax5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1352156 D RGD:7240710 20200325 OMIM 1565237 Il17rd interleukin 17 receptor D gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 1565237 Il17rd interleukin 17 receptor D gene DOID:0060857 septooptic dysplasia ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 1565237 Il17rd interleukin 17 receptor D gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1565237 Il17rd interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:7240710 20140911 OMIM 1565237 Il17rd interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532 1565237 Il17rd interleukin 17 receptor D gene DOID:1924 hypogonadism ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:25741868 1565237 Il17rd interleukin 17 receptor D gene DOID:630 genetic disease ISO RGD:1353408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565237 Il17rd interleukin 17 receptor D gene DOID:9000998 Brain Injuries ISO RGD:1353408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1565237 Il17rd interleukin 17 receptor D gene DOID:9001239 Delayed Puberty ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 1565237 Il17rd interleukin 17 receptor D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16474841 1565237 Il17rd interleukin 17 receptor D gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1565242 Rufy3 RUN and FYVE domain containing 3 gene DOID:37 skin disease ISO RGD:1604831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1565242 Rufy3 RUN and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1604831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565242 Rufy3 RUN and FYVE domain containing 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1565242 Rufy3 RUN and FYVE domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1604831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1565247 Unkl unk like zinc finger gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1565247 Unkl unk like zinc finger gene DOID:0080678 mucolipidosis III gamma ISO RGD:1604323 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM 1565247 Unkl unk like zinc finger gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1565247 Unkl unk like zinc finger gene DOID:1826 epilepsy ISO RGD:1604323 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1565247 Unkl unk like zinc finger gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604323 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1565247 Unkl unk like zinc finger gene DOID:630 genetic disease ISO RGD:1604323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565249 Cd96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17847009 1565249 Cd96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:7240710 20130221 OMIM 1565249 Cd96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C syndrome PMID:17847009|PMID:25741868|PMID:28492532|PMID:34906502 1565249 Cd96 CD96 molecule gene DOID:2377 multiple sclerosis ISO RGD:1343806 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1565249 Cd96 CD96 molecule gene DOID:630 genetic disease ISO RGD:1343806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565253 Glce glucuronic acid epimerase gene DOID:2717 Bloom syndrome ISO RGD:1607059 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1565253 Glce glucuronic acid epimerase gene DOID:630 genetic disease ISO RGD:1607059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565253 Glce glucuronic acid epimerase gene DOID:9256 colorectal cancer ISO RGD:1607059 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:0060022 CD40 ligand deficiency ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349812 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:0060825 Christianson syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:7240710 20151202 OMIM 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type PMID:10677307|PMID:25256757|PMID:25741868 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:12849 autistic disorder ISO RGD:1349812 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:630 genetic disease ISO RGD:1349812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053723|PMID:23180094 20150720 RGD 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565256 Rbmx RNA binding motif protein, X-linked gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 1565257 Ubr3 ubiquitin protein ligase E3 component n-recognin 3 gene DOID:630 genetic disease ISO RGD:1346219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565261 Kndc1 kinase non-catalytic C-lobe domain containing 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351519 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1565261 Kndc1 kinase non-catalytic C-lobe domain containing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1351519 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1565261 Kndc1 kinase non-catalytic C-lobe domain containing 1 gene DOID:630 genetic disease ISO RGD:1351519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565263 Rab19 RAB19, member RAS oncogene family gene DOID:0080690 RASopathy ISO RGD:1604143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1565263 Rab19 RAB19, member RAS oncogene family gene DOID:11193 syndactyly ISO RGD:1604143 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 1565263 Rab19 RAB19, member RAS oncogene family gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604143 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1565263 Rab19 RAB19, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565267 Zcchc17 zinc finger CCHC-type containing 17 gene DOID:630 genetic disease ISO RGD:1604815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565271 Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1351459 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 1565271 Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 gene DOID:12336 male infertility ISO RGD:1351459 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility 1565271 Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 gene DOID:2843 long QT syndrome ISO RGD:1351459 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1565271 Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 gene DOID:37 skin disease ISO RGD:1351459 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 1565271 Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 gene DOID:630 genetic disease ISO RGD:1351459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565277 Iqcf3 IQ motif containing F3 gene DOID:630 genetic disease ISO RGD:1350039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606022 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1606022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606022 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606022 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606022 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:12849 autistic disorder ISO RGD:1606022 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19242545 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:12849 autistic disorder ISO RGD:1606022 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:1882 atrial heart septal defect ISO RGD:1606022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:5419 schizophrenia ISO RGD:1606022 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:630 genetic disease ISO RGD:1606022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606022 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1565281 Sez6l2 seizure related 6 homolog like 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1606022 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1565282 Spata17 spermatogenesis associated 17 gene DOID:0050439 Usher syndrome ISO RGD:1604999 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1565282 Spata17 spermatogenesis associated 17 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604999 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1565282 Spata17 spermatogenesis associated 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1604999 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565282 Spata17 spermatogenesis associated 17 gene DOID:630 genetic disease ISO RGD:1604999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565282 Spata17 spermatogenesis associated 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604999 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565283 Spata46 spermatogenesis associated 46 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1565283 Spata46 spermatogenesis associated 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1603514 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565283 Spata46 spermatogenesis associated 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603514 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565284 Pirt phosphoinositide-interacting regulator of transient receptor potential channels gene DOID:630 genetic disease ISO RGD:3539788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565289 Apoo apolipoprotein O gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603962 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565289 Apoo apolipoprotein O gene DOID:12849 autistic disorder ISO RGD:1603962 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565289 Apoo apolipoprotein O gene DOID:3650 lactic acidosis ISO RGD:1603962 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Lactic acidosis 1565289 Apoo apolipoprotein O gene DOID:630 genetic disease ISO RGD:1603962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565289 Apoo apolipoprotein O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603962 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565292 Copg1 COPI coat complex subunit gamma 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1565292 Copg1 COPI coat complex subunit gamma 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345265 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26463840 1565292 Copg1 COPI coat complex subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1345265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565292 Copg1 COPI coat complex subunit gamma 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1565292 Copg1 COPI coat complex subunit gamma 1 gene DOID:9270 alkaptonuria ISO RGD:1345265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1565300 Rab43 RAB43, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1565300 Rab43 RAB43, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1603859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565300 Rab43 RAB43, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1565300 Rab43 RAB43, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1603859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1565302 Tmem121b transmembrane protein 121B gene DOID:0080600 COVID-19 ISO RGD:1349802 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565302 Tmem121b transmembrane protein 121B gene DOID:0111996 immunodeficiency 51 ISO RGD:1349802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 51 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1565302 Tmem121b transmembrane protein 121B gene DOID:630 genetic disease ISO RGD:1349802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565302 Tmem121b transmembrane protein 121B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349802 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565302 Tmem121b transmembrane protein 121B gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1349802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1565309 Catspere catsper channel auxiliary subunit epsilon gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1565309 Catspere catsper channel auxiliary subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1604494 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565309 Catspere catsper channel auxiliary subunit epsilon gene DOID:630 genetic disease ISO RGD:1604494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565309 Catspere catsper channel auxiliary subunit epsilon gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 1565309 Catspere catsper channel auxiliary subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604494 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565310 Ppp1r21 protein phosphatase 1, regulatory subunit 21 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1605582 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 1565310 Ppp1r21 protein phosphatase 1, regulatory subunit 21 gene DOID:630 genetic disease ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565310 Ppp1r21 protein phosphatase 1, regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:7240710 20210825 OMIM 1565310 Ppp1r21 protein phosphatase 1, regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities PMID:25741868|PMID:28940097|PMID:29808498|PMID:30520571|PMID:32985083 1565310 Ppp1r21 protein phosphatase 1, regulatory subunit 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605582 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 1565311 Polr3b RNA polymerase III subunit B gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1565311 Polr3b RNA polymerase III subunit B gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32180488|PMID:32319736 1565311 Polr3b RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:7240710 20140911 OMIM 1565311 Polr3b RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism PMID:17576681|PMID:18851904|PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26011300|PMID:26045207|PMID:26204956|PMID:26478204|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:29141312|PMID:31221184|PMID:31969655|PMID:32180488|PMID:32319736|PMID:32870266|PMID:34440436|PMID:9536098 1565311 Polr3b RNA polymerase III subunit B gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 1565311 Polr3b RNA polymerase III subunit B gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:32870266|PMID:34440436 1565311 Polr3b RNA polymerase III subunit B gene DOID:1059 intellectual disability ISO RGD:1351468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1565311 Polr3b RNA polymerase III subunit B gene DOID:13938 amenorrhea ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22855961|PMID:25133958|PMID:25741868|PMID:27029625|PMID:27512013|PMID:28492532|PMID:32870266|PMID:34440436 1565311 Polr3b RNA polymerase III subunit B gene DOID:1921 Klinefelter syndrome ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 1565311 Polr3b RNA polymerase III subunit B gene DOID:630 genetic disease ISO RGD:1351468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22855961|PMID:25339210|PMID:25741868|PMID:28492532|PMID:9536098 1565311 Polr3b RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:7240710 20220223 OMIM 1565311 Polr3b RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I PMID:25741868|PMID:34666706|PMID:35395209 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0050476 Barth syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:7240710 20140911 OMIM 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:18414213|PMID:21700266|PMID:23020937|PMID:25099252|PMID:25326635|PMID:25489052|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28327206|PMID:28492532|PMID:28708303|PMID:29558889|PMID:29957440|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0050800 creatine transporter deficiency ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:7240710 20140205 OMIM 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:11426460|PMID:16114045|PMID:1679229|PMID:24033266|PMID:24431331|PMID:25741868|PMID:28492532|PMID:30842225 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:0112003 immunodeficiency 33 ISO RGD:1349422 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:10588 adrenoleukodystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:18414213|PMID:24033266|PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1349422 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:13628 favism ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1349422 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:607 paraplegia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:9002720 Splenomegaly ISO RGD:1349422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349422 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 1565315 Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit gene DOID:9006205 Animal Disease Models ISO RGD:1349422 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1565316 Spatc1 spermatogenesis and centriole associated 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1565316 Spatc1 spermatogenesis and centriole associated 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1565316 Spatc1 spermatogenesis and centriole associated 1 gene DOID:4621 holoprosencephaly ISO RGD:1344287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1565316 Spatc1 spermatogenesis and centriole associated 1 gene DOID:630 genetic disease ISO RGD:1344287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565318 Slc35b2 solute carrier family 35 member B2 gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 1565318 Slc35b2 solute carrier family 35 member B2 gene DOID:630 genetic disease ISO RGD:1349281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565318 Slc35b2 solute carrier family 35 member B2 gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1349281 D RGD:7240710 20230505 OMIM 1565318 Slc35b2 solute carrier family 35 member B2 gene DOID:9008469 Hypomyelinating Leukodystrophy 26 ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1605406 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:1059 intellectual disability ISO RGD:1605406 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:2746 glycogen storage disease V ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:630 genetic disease ISO RGD:1605406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605406 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1565319 Ccdc85b coiled-coil domain containing 85B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1565325 Chmp6 charged multivesicular body protein 6 gene DOID:630 genetic disease ISO RGD:1606234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565341 Tsnaxip1 translin-associated factor X interacting protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1565341 Tsnaxip1 translin-associated factor X interacting protein 1 gene DOID:10283 prostate cancer ISO RGD:1348366 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1565341 Tsnaxip1 translin-associated factor X interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565342 Ly6e lymphocyte antigen 6 family member E gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 1565342 Ly6e lymphocyte antigen 6 family member E gene DOID:1793 pancreatic cancer ISO RGD:1351321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 1565342 Ly6e lymphocyte antigen 6 family member E gene DOID:4621 holoprosencephaly ISO RGD:1351321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1565342 Ly6e lymphocyte antigen 6 family member E gene DOID:630 genetic disease ISO RGD:1351321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565342 Ly6e lymphocyte antigen 6 family member E gene DOID:9001488 Human Influenza ISO RGD:1351321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1565344 Zmat1 zinc finger, matrin-type 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345896 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565344 Zmat1 zinc finger, matrin-type 1 gene DOID:12849 autistic disorder ISO RGD:1345896 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565344 Zmat1 zinc finger, matrin-type 1 gene DOID:630 genetic disease ISO RGD:1345896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565348 Tgm6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:7240710 20140903 OMIM 1565348 Tgm6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 PMID:17576681|PMID:21106500|PMID:21907015|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:28934387|PMID:29482223|PMID:30229425|PMID:30670339|PMID:31785789|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33378849|PMID:34008892|PMID:9536098 1565348 Tgm6 transglutaminase 6 gene DOID:0080855 Parkinsonism ISO RGD:1349690 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 1565348 Tgm6 transglutaminase 6 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349690 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1565348 Tgm6 transglutaminase 6 gene DOID:1389 polyneuropathy ISO RGD:1349690 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:26467025 1565348 Tgm6 transglutaminase 6 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1349690 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 1565348 Tgm6 transglutaminase 6 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1565348 Tgm6 transglutaminase 6 gene DOID:630 genetic disease ISO RGD:1349690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30670339 1565348 Tgm6 transglutaminase 6 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1349690 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1565348 Tgm6 transglutaminase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21106500|PMID:23206699|PMID:24755948|PMID:25253745|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513 1565350 Shb SH2 domain containing adaptor protein B gene DOID:630 genetic disease ISO RGD:1350494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565351 Rfxap regulatory factor X-associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:7240710 20180328 OMIM 1565351 Rfxap regulatory factor X-associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency PMID:12498778|PMID:17576681|PMID:20197681|PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:650344|PMID:7021490|PMID:9118943|PMID:9287230|PMID:9536098 1565351 Rfxap regulatory factor X-associated protein gene DOID:630 genetic disease ISO RGD:1348538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565353 Pak1ip1 PAK1 interacting protein 1 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1353310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 1565353 Pak1ip1 PAK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1353310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565360 Hlcs holocarboxylase synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1565360 Hlcs holocarboxylase synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320489 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1565360 Hlcs holocarboxylase synthetase gene DOID:1826 epilepsy ISO RGD:1320489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1565360 Hlcs holocarboxylase synthetase gene DOID:630 genetic disease ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16134170|PMID:24033266|PMID:24215330|PMID:25741868|PMID:27604308|PMID:28492532 1565360 Hlcs holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:1302549|PMID:12124727 19990101 RGD DNA:missense mutations:cds:multiple (human) 1565360 Hlcs holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:7240710 20130221 OMIM 1565360 Hlcs holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:15635070|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:33123633|PMID:6133032|PMID:7842009|PMID:8319716|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216 1565360 Hlcs holocarboxylase synthetase gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1320489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 1565362 Patj PATJ, crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:1604056 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1565362 Patj PATJ, crumbs cell polarity complex component gene DOID:303 substance-related disorder ISO RGD:1604056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1565362 Patj PATJ, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:1604056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565362 Patj PATJ, crumbs cell polarity complex component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604056 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1565363 Bola2 bolA family member 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1605757 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:24033266|PMID:25741868|PMID:28492532 1565363 Bola2 bolA family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1605757 D RGD:8554872 20160802 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1565363 Bola2 bolA family member 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1605757 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome 1565363 Bola2 bolA family member 2 gene DOID:12849 autistic disorder ISO RGD:1605757 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565363 Bola2 bolA family member 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1605757 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:23805033|PMID:24033266|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050817 Stargardt disease ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:7240710 20130221 OMIM 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12357335|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25525159|PMID:25558076|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:29186038|PMID:29769798|PMID:30337596|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218|PMID:9536098 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:11124331|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20301591|PMID:21270786|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:25974703|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:1242 globe disease ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Globe disease PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness ISO RGD:1352344 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30418171 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness susceptibility ISO RGD:1352344 D RGD:1600870|PMID:10958649 20070328 RGD DNA:mutations 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13911 achromatopsia ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25326637|PMID:25474149|PMID:25525159|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30418171|PMID:30718709|PMID:31456290|PMID:32860008|PMID:32869108|PMID:33546218|PMID:9536098 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:25558176|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:9536098 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:4448 macular degeneration ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28041643|PMID:28492532|PMID:28795510|PMID:9536098 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:630 genetic disease ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15657609|PMID:25741868|PMID:26106334|PMID:28492532 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:8501 fundus dystrophy ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:24148654|PMID:25205868|PMID:25525159|PMID:25558176|PMID:25741868|PMID:25770143|PMID:27479814|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:9536098 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1352344 D RGD:9068446|PMID:17265047 20140819 RGD DNA:deletion: :c.1148delC (human) 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1557161 D RGD:9068450|PMID:21576125 20140819 RGD 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 treatment ISO RGD:1352344 D RGD:9068450|PMID:21576125 20140819 RGD 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 1565364 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9650 pathologic nystagmus ISO RGD:1352344 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:10888875|PMID:10958649|PMID:15657609|PMID:15712225|PMID:17652762|PMID:20079539|PMID:25558176|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798 1565366 Hmx2 H6 family homeobox 2 gene DOID:630 genetic disease ISO RGD:1344941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565366 Hmx2 H6 family homeobox 2 gene DOID:9002189 High Myopia ISO RGD:1344941 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1565373 Clec2l C-type lectin domain family 2, member L gene DOID:0080690 RASopathy ISO RGD:1351189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1565373 Clec2l C-type lectin domain family 2, member L gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351189 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1565373 Clec2l C-type lectin domain family 2, member L gene DOID:630 genetic disease ISO RGD:1351189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565374 Mcemp1 mast cell-expressed membrane protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1565374 Mcemp1 mast cell-expressed membrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1604975 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565374 Mcemp1 mast cell-expressed membrane protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604975 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1565374 Mcemp1 mast cell-expressed membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565375 Cbx8 chromobox 8 gene DOID:3068 glioblastoma ISO RGD:1351003 D RGD:9587354|PMID:24260522 20141014 RGD mRNA:increased expression:astrocyte: 1565375 Cbx8 chromobox 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351003 D RGD:9587436|PMID:25197352 20141014 RGD mRNA:increased expression:esophagus: 1565375 Cbx8 chromobox 8 gene DOID:630 genetic disease ISO RGD:1351003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565375 Cbx8 chromobox 8 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1565377 Tex29 testis expressed 29 gene DOID:2222 factor X deficiency ISO RGD:1353968 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1565377 Tex29 testis expressed 29 gene DOID:630 genetic disease ISO RGD:1353968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565378 Spata22 spermatogenesis associated 22 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606760 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 1565378 Spata22 spermatogenesis associated 22 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma 1565378 Spata22 spermatogenesis associated 22 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1606760 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 1565378 Spata22 spermatogenesis associated 22 gene DOID:1059 intellectual disability ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 1565378 Spata22 spermatogenesis associated 22 gene DOID:3613 Canavan disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18978679|PMID:19685155|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9887384 1565378 Spata22 spermatogenesis associated 22 gene DOID:630 genetic disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9887384 1565380 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:1059 intellectual disability ISO RGD:1603604 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565380 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:12704 ataxia telangiectasia ISO RGD:1603604 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1565380 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:630 genetic disease ISO RGD:1603604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565380 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603604 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1565381 Erp27 endoplasmic reticulum protein 27 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1565381 Erp27 endoplasmic reticulum protein 27 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1605301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1565381 Erp27 endoplasmic reticulum protein 27 gene DOID:630 genetic disease ISO RGD:1605301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565382 Triml2 tripartite motif family-like 2 gene DOID:12849 autistic disorder ISO RGD:1602827 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565382 Triml2 tripartite motif family-like 2 gene DOID:2229 factor XI deficiency ISO RGD:1602827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 1565382 Triml2 tripartite motif family-like 2 gene DOID:630 genetic disease ISO RGD:1602827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565382 Triml2 tripartite motif family-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602827 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565383 Ppfibp2 PPFIA binding protein 2 gene DOID:630 genetic disease ISO RGD:1316733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565383 Ppfibp2 PPFIA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26443449 1565383 Ppfibp2 PPFIA binding protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316733 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1565384 Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1565384 Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606752 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565384 Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1606752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565384 Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1565384 Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606752 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565385 Cwc22 CWC22 spliceosome associated protein gene DOID:630 genetic disease ISO RGD:1605651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:1343157 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1343157 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0080006 bone development disease ISO RGD:1343157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:1522213|PMID:20574428|PMID:22521955|PMID:23137060|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30305043|PMID:31200731|PMID:31991612|PMID:32024277|PMID:34387910|PMID:9298823 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1343157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:7240710 20191030 OMIM 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:10699374|PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:12955720|PMID:1522213|PMID:15235041|PMID:15241807|PMID:15309681|PMID:15689448|PMID:16199547|PMID:16287098|PMID:16378744|PMID:16837223|PMID:16959974|PMID:17576681|PMID:17876718|PMID:18484607|PMID:18710657|PMID:18792995|PMID:19881469|PMID:20301515|PMID:20301788|PMID:20574428|PMID:21506915|PMID:21644215|PMID:21896407|PMID:21943391|PMID:22078177|PMID:22178352|PMID:22327063|PMID:22487817|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23137060|PMID:23227063|PMID:23313879|PMID:23401410|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24411403|PMID:24726177|PMID:24767253|PMID:24773188|PMID:24875751|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25364648|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26276046|PMID:26502894|PMID:27243974|PMID:27317439|PMID:27331011|PMID:27825773|PMID:28397226|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29426755|PMID:29620724|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30138938|PMID:30305043|PMID:30458289|PMID:30487145|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:3129221|PMID:31732130|PMID:31991612|PMID:32014045|PMID:32024277|PMID:32102177|PMID:32183856|PMID:32216080|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33256811|PMID:33304816|PMID:33726816|PMID:33752727|PMID:34008892|PMID:34387910|PMID:34573925|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35782601|PMID:36077388|PMID:7581409|PMID:7633425|PMID:7668283|PMID:7795586|PMID:7987329|PMID:8651279|PMID:8826435|PMID:8829629|PMID:8844220|PMID:9290256|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421|PMID:9536098|PMID:9660054 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1343157 D RGD:11554173 20191105 CTD CTD Direct Evidence: marker/mechanism 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1343157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:15235041|PMID:15241807|PMID:15309681|PMID:16287098|PMID:16837223|PMID:16959974|PMID:17876718|PMID:18710657|PMID:20574428|PMID:21506915|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23227063|PMID:23401410|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24726177|PMID:24773188|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26502894|PMID:27317439|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30458289|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:31732130|PMID:32014045|PMID:32183856|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33726816|PMID:34387910|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35782601|PMID:36077388|PMID:7633425|PMID:7668283|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:14780 KBG syndrome ISO RGD:1343157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11524742|PMID:15235041|PMID:16287098|PMID:16837223|PMID:20574428|PMID:21506915|PMID:22940367|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:29731656|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7633425|PMID:7795586|PMID:9298823|PMID:9375852 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1343157 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1565391 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:9005372 Inflammation ISO RGD:1343157 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7849337 1565392 Pcdh19 protocadherin 19 gene DOID:0060041 autism spectrum disorder ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1565392 Pcdh19 protocadherin 19 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354208 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565392 Pcdh19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:7240710 20131030 OMIM 1565392 Pcdh19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME PMID:16199547|PMID:17576681|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:21777234|PMID:22050978|PMID:22267240|PMID:22504056|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25227595|PMID:25326635|PMID:25499160|PMID:25640679|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26704558|PMID:26765483|PMID:26954813|PMID:26993267|PMID:27029629|PMID:27143072|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27864847|PMID:27884173|PMID:28102150|PMID:28334947|PMID:28462982|PMID:28492532|PMID:28669061|PMID:28690234|PMID:28837158|PMID:29056246|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29655203|PMID:29763708|PMID:29866057|PMID:29933145|PMID:29933521|PMID:30287595|PMID:30451291|PMID:30530412|PMID:30828795|PMID:30945278|PMID:31031587|PMID:31054490|PMID:31139143|PMID:31175295|PMID:31302675|PMID:31319225|PMID:31487502|PMID:31618753|PMID:31665840|PMID:31714027|PMID:31901402|PMID:32146541|PMID:32189863|PMID:32366910|PMID:32425876|PMID:33262389|PMID:34008892|PMID:34082468|PMID:5116697|PMID:9536098 1565392 Pcdh19 protocadherin 19 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1565392 Pcdh19 protocadherin 19 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1354208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 1565392 Pcdh19 protocadherin 19 gene DOID:1059 intellectual disability ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1565392 Pcdh19 protocadherin 19 gene DOID:12849 autistic disorder ISO RGD:1354208 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565392 Pcdh19 protocadherin 19 gene DOID:1826 epilepsy ISO RGD:1354208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18469813 1565392 Pcdh19 protocadherin 19 gene DOID:1826 epilepsy ISO RGD:1354208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1565392 Pcdh19 protocadherin 19 gene DOID:2234 focal epilepsy ISO RGD:1354208 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:29377098 1565392 Pcdh19 protocadherin 19 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:19214208|PMID:19752159|PMID:20713952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 1565392 Pcdh19 protocadherin 19 gene DOID:535 sleep disorder ISO RGD:1354208 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:18414213|PMID:25741868|PMID:28492532 1565392 Pcdh19 protocadherin 19 gene DOID:630 genetic disease ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11736639|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26765483|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27884173|PMID:28462982|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29866057|PMID:29933145|PMID:30287595|PMID:30530412|PMID:31302675|PMID:34082468 1565392 Pcdh19 protocadherin 19 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1354208 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 1565392 Pcdh19 protocadherin 19 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:26704558|PMID:28492532 1565392 Pcdh19 protocadherin 19 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18469813 1565392 Pcdh19 protocadherin 19 gene DOID:9007956 Febrile Seizures ISO RGD:1354208 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Complex febrile seizure PMID:25741868 1565392 Pcdh19 protocadherin 19 gene DOID:9008086 Developmental Disabilities ISO RGD:1354208 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18469813|PMID:21053371|PMID:22267240|PMID:22946748|PMID:23334464|PMID:25741868|PMID:27143072|PMID:27527380|PMID:28492532|PMID:5116697 1565392 Pcdh19 protocadherin 19 gene DOID:9268 glycine encephalopathy ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 1565393 Fam170a family with sequence similarity 170, member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565393 Fam170a family with sequence similarity 170, member A gene DOID:630 genetic disease ISO RGD:1602273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565393 Fam170a family with sequence similarity 170, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602273 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565393 Fam170a family with sequence similarity 170, member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565396 Fcho2 FCH and mu domain containing endocytic adaptor 2 gene DOID:630 genetic disease ISO RGD:1348405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565396 Fcho2 FCH and mu domain containing endocytic adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348405 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:7240710 20130221 OMIM 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:15689448|PMID:16088929|PMID:16130093|PMID:16935502|PMID:17015493|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20576434|PMID:20882040|PMID:20976770|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23572247|PMID:24038877|PMID:24223098|PMID:24801232|PMID:24959844|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:28182637|PMID:28424332|PMID:28492532|PMID:30895940|PMID:34008892|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9724608 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1352880 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:10419498|PMID:11707460|PMID:12840783|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:17015493|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20301676|PMID:20302629|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:25741868|PMID:25749816|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:27884173|PMID:28182637|PMID:28492532|PMID:29419890|PMID:30564623|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098|PMID:9724608 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1352880 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:1352880 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1352880 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:423 myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:27854213|PMID:28492532|PMID:28771251 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20576434|PMID:24038877|PMID:25741868|PMID:27708273|PMID:28182637|PMID:28492532|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9724608 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352880 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:7240710 20190327 OMIM 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:10329467|PMID:10419498|PMID:11707460|PMID:11865138|PMID:11932968|PMID:12840783|PMID:15563506|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:16278855|PMID:16935502|PMID:17015493|PMID:17576681|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20301468|PMID:20301676|PMID:20302629|PMID:20576434|PMID:20882040|PMID:20976770|PMID:20981092|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23326386|PMID:23572247|PMID:23738969|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:24801232|PMID:24959844|PMID:25204870|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:25749816|PMID:25978941|PMID:26436962|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28182637|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28771251|PMID:28831785|PMID:28877744|PMID:28984114|PMID:29382405|PMID:29406609|PMID:29417091|PMID:29419890|PMID:30564623|PMID:30706156|PMID:30895940|PMID:31130284|PMID:32065942|PMID:32154989|PMID:32389683|PMID:32403337|PMID:32528171|PMID:33250842|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:7881296|PMID:8218237|PMID:8268929|PMID:8730294|PMID:8782832|PMID:9536098|PMID:9580662|PMID:9724608 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1352880 D RGD:1600934|PMID:8782832 20070330 RGD Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1352880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9005172 Lung Neoplasms ISO RGD:1352880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:11707460|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:17015493|PMID:17576681|PMID:18378883|PMID:18414213|PMID:19344236|PMID:20302629|PMID:20976770|PMID:20981092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27854213|PMID:27884173|PMID:28492532|PMID:28831785|PMID:30564623|PMID:32389683|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9277 primary cerebellar degeneration ISO RGD:1352880 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:10419498|PMID:12840783|PMID:15955946|PMID:16199547|PMID:17886299|PMID:18366090|PMID:20301676|PMID:20976770|PMID:21280092|PMID:24271325|PMID:25741868|PMID:25749816|PMID:28492532|PMID:29419890 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1352880 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 1565398 Col6a1 collagen type VI alpha 1 chain gene DOID:9884 muscular dystrophy ISO RGD:1352880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20716577 1565406 Agr3 anterior gradient 3, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604981 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1565406 Agr3 anterior gradient 3, protein disulphide isomerase family member gene DOID:630 genetic disease ISO RGD:1604981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565407 Ocel1 occludin/ELL domain containing 1 gene DOID:630 genetic disease ISO RGD:1603010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565408 Sertad4 SERTA domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351903 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565408 Sertad4 SERTA domain containing 4 gene DOID:630 genetic disease ISO RGD:1351903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565408 Sertad4 SERTA domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351903 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565411 Prpf40b pre-mRNA processing factor 40 homolog B gene DOID:630 genetic disease ISO RGD:1604375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565414 Nhlrc3 NHL repeat containing 3 gene DOID:630 genetic disease ISO RGD:1605503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565416 Tln2 talin 2 gene DOID:2661 myoepithelioma ISO RGD:1350417 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1565416 Tln2 talin 2 gene DOID:2717 Bloom syndrome ISO RGD:1350417 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1565416 Tln2 talin 2 gene DOID:630 genetic disease ISO RGD:1350417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565416 Tln2 talin 2 gene DOID:9256 colorectal cancer ISO RGD:1350417 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1565419 Zfp317 zinc finger protein 317 gene DOID:12849 autistic disorder ISO RGD:1345905 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565419 Zfp317 zinc finger protein 317 gene DOID:630 genetic disease ISO RGD:1345905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565425 Lekr1 leucine, glutamate and lysine rich 1 gene DOID:630 genetic disease ISO RGD:1605790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565426 Itih2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345234 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1565426 Itih2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:630 genetic disease ISO RGD:1345234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565432 Svip small VCP interacting protein gene DOID:1059 intellectual disability ISO RGD:2306136 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565432 Svip small VCP interacting protein gene DOID:630 genetic disease ISO RGD:2306136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565434 Synpo2l synaptopodin 2-like gene DOID:0060224 atrial fibrillation ISO RGD:1348800 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1565434 Synpo2l synaptopodin 2-like gene DOID:630 genetic disease ISO RGD:1348800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565441 Klhl4 kelch-like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349490 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565441 Klhl4 kelch-like family member 4 gene DOID:12849 autistic disorder ISO RGD:1349490 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565441 Klhl4 kelch-like family member 4 gene DOID:630 genetic disease ISO RGD:1349490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0060041 autism spectrum disorder ISO RGD:1343765 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:1059 intellectual disability ISO RGD:1343765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:11198 DiGeorge syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:11372 megacolon ISO RGD:1343765 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:12849 autistic disorder ISO RGD:1343765 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:1826 epilepsy ISO RGD:1343765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:5419 schizophrenia ISO RGD:1343765 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:612 primary immunodeficiency disease ISO RGD:1343765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:630 genetic disease ISO RGD:1343765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343765 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:9007661 Dwarfism ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1565444 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343765 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1565445 LOC290876 similar to RIKEN cDNA 1700029H14 gene DOID:2222 factor X deficiency ISO RGD:13462007 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1565447 Hormad2 HORMA domain containing 2 gene DOID:630 genetic disease ISO RGD:1348799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565449 Parn poly(A)-specific ribonuclease gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25848748 1565449 Parn poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:7240710 20150923 OMIM 1565449 Parn poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:16199547|PMID:17576681|PMID:22834816|PMID:25640679|PMID:25741868|PMID:25848748|PMID:25893599|PMID:26342108|PMID:26482878|PMID:26810774|PMID:28099038|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30523342|PMID:30525901|PMID:31268371|PMID:31448843|PMID:34298581|PMID:9536098|PMID:9736620 1565449 Parn poly(A)-specific ribonuclease gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 1565449 Parn poly(A)-specific ribonuclease gene DOID:2729 dyskeratosis congenita ISO RGD:1348471 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25893599 1565449 Parn poly(A)-specific ribonuclease gene DOID:3770 pulmonary fibrosis ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:16199547|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30525901|PMID:9736620 1565449 Parn poly(A)-specific ribonuclease gene DOID:630 genetic disease ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30523342|PMID:31268371|PMID:9536098 1565449 Parn poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:7240710 20170405 OMIM 1565449 Parn poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:16281054|PMID:22834816|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:34298581|PMID:9736620 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1345082 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:22152675|PMID:28492532 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:10283 prostate cancer ISO RGD:1345082 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:630 genetic disease ISO RGD:1345082 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:7240710 20220330 OMIM 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 68 PMID:31985809 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345082 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345082 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565450 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1565451 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351493 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565451 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1565451 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:12849 autistic disorder ISO RGD:1351493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565451 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:630 genetic disease ISO RGD:1351493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565452 Tmem51 transmembrane protein 51 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1565452 Tmem51 transmembrane protein 51 gene DOID:630 genetic disease ISO RGD:1602878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565454 Izumo1 izumo sperm-oocyte fusion 1 gene DOID:630 genetic disease ISO RGD:1604485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565457 Rasa4 RAS p21 protein activator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306251 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1565460 Zfp280b zinc finger protein 280B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1565460 Zfp280b zinc finger protein 280B gene DOID:11198 DiGeorge syndrome ISO RGD:1348223 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1565460 Zfp280b zinc finger protein 280B gene DOID:630 genetic disease ISO RGD:1348223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565465 Uckl1 uridine-cytidine kinase 1-like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1565465 Uckl1 uridine-cytidine kinase 1-like 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1565465 Uckl1 uridine-cytidine kinase 1-like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1565465 Uckl1 uridine-cytidine kinase 1-like 1 gene DOID:630 genetic disease ISO RGD:1342858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565468 Zzz3 zinc finger, ZZ-type containing 3 gene DOID:4905 pancreatic carcinoma ISO RGD:1351388 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 1565468 Zzz3 zinc finger, ZZ-type containing 3 gene DOID:630 genetic disease ISO RGD:1351388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565469 Nudt17 nudix hydrolase 17 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1565469 Nudt17 nudix hydrolase 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1350013 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565469 Nudt17 nudix hydrolase 17 gene DOID:5419 schizophrenia ISO RGD:1350013 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565469 Nudt17 nudix hydrolase 17 gene DOID:630 genetic disease ISO RGD:1350013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565469 Nudt17 nudix hydrolase 17 gene DOID:9008939 Breast Neoplasms ISO RGD:1350013 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1565469 Nudt17 nudix hydrolase 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350013 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565470 Kel Kell metallo-endopeptidase (Kell blood group) gene DOID:630 genetic disease ISO RGD:1316929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565470 Kel Kell metallo-endopeptidase (Kell blood group) gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1316929 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 1565474 Tcaf1 TRPM8 channel-associated factor 1 gene DOID:630 genetic disease ISO RGD:1602499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565476 Tuba1b tubulin, alpha 1B gene DOID:11476 osteoporosis ISO RGD:1603700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1565480 Ube2u ubiquitin conjugating enzyme E2 U gene DOID:1059 intellectual disability ISO RGD:1606149 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1565480 Ube2u ubiquitin conjugating enzyme E2 U gene DOID:630 genetic disease ISO RGD:1606149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:12849 autistic disorder ISO RGD:1342500 D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9588233|PMID:25151357 20141210 RGD DNA:mutations:multiple (human) 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:4450 renal cell carcinoma ISO RGD:1354488 D RGD:6907137|PMID:21654818 20121030 RGD 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:4450 renal cell carcinoma ISO RGD:1354488 D RGD:9587837|PMID:23057811 20141021 RGD mRNA, protein:increased expression:kidney (human) 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354488 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:9008939 Breast Neoplasms severity ISO RGD:1354488 D RGD:9586031|PMID:22199269 20141003 RGD mRNA:increased expression:breast (human) 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:9008939 Breast Neoplasms severity ISO RGD:1354488 D RGD:9586731|PMID:23266085 20141003 RGD mRNA:increased expression:breast (human) 1565481 Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1354488 D RGD:9684944|PMID:22377896 20141210 RGD DNA:mutations:cds:multiple (human) 1565485 Zfp524 zinc finger protein 524 gene DOID:630 genetic disease ISO RGD:1351738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565488 Jagn1 jagunal homolog 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1342770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801 1565488 Jagn1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:11531098|PMID:25851723 20160825 RGD DNA:missense mutation:exon:p.H44Y (human) 1565488 Jagn1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:11531099|PMID:25129144 20160825 RGD DNA:missense mutations: :multiple 1565488 Jagn1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:7240710 20150624 OMIM 1565488 Jagn1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:17576681|PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801|PMID:9536098 1565488 Jagn1 jagunal homolog 1 gene DOID:1227 neutropenia ISO RGD:1342770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25129144|PMID:25129145 1565488 Jagn1 jagunal homolog 1 gene DOID:2843 long QT syndrome ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1565488 Jagn1 jagunal homolog 1 gene DOID:630 genetic disease ISO RGD:1342770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565488 Jagn1 jagunal homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342770 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565488 Jagn1 jagunal homolog 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1342770 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1565488 Jagn1 jagunal homolog 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1342770 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1565493 Rgs22 regulator of G-protein signaling 22 gene DOID:0111590 Cohen syndrome ISO RGD:1606803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1565493 Rgs22 regulator of G-protein signaling 22 gene DOID:630 genetic disease ISO RGD:1606803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565494 Magea9 MAGE family member A9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1565494 Magea9 MAGE family member A9 gene DOID:11054 urinary bladder cancer ISO RGD:1344901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17290406 1565494 Magea9 MAGE family member A9 gene DOID:12849 autistic disorder ISO RGD:1344901 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565496 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1605074 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1565496 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:2717 Bloom syndrome ISO RGD:1605074 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1565496 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:630 genetic disease ISO RGD:1605074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565496 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:9256 colorectal cancer ISO RGD:1605074 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1565498 Kics2 KICSTOR subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1351504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:28492532|PMID:30311386 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351504 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11462238|PMID:11572889|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24033266|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:25741868 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1351504 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:32581362 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:10752524|PMID:12028435|PMID:14514738|PMID:16199547|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:7240710 20160615 OMIM 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:10094548|PMID:10561141|PMID:10684360|PMID:10752524|PMID:11223851|PMID:11462238|PMID:11572889|PMID:12028435|PMID:12105244|PMID:12796257|PMID:1330889|PMID:1352287|PMID:13582260|PMID:1363780|PMID:1376965|PMID:14514738|PMID:14604828|PMID:14856448|PMID:14993485|PMID:15044104|PMID:1577459|PMID:15780079|PMID:15954103|PMID:15957001|PMID:1598909|PMID:16199547|PMID:1672282|PMID:16941480|PMID:17277342|PMID:17396119|PMID:17576681|PMID:17660027|PMID:1783380|PMID:18083113|PMID:18343956|PMID:19019929|PMID:19281745|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:20881942|PMID:20884774|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:22921432|PMID:22995991|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24077912|PMID:24088041|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24472419|PMID:24522658|PMID:24759409|PMID:24854265|PMID:25183659|PMID:25525159|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25741911|PMID:25788563|PMID:25876686|PMID:26467025|PMID:26613025|PMID:26633545|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27353043|PMID:27627812|PMID:27725732|PMID:27989324|PMID:28492532|PMID:28542346|PMID:28780565|PMID:28827396|PMID:28844315|PMID:29095814|PMID:29098738|PMID:29127259|PMID:29142990|PMID:29144512|PMID:29198386|PMID:29204651|PMID:29270492|PMID:29526710|PMID:29801666|PMID:29854973|PMID:29959198|PMID:30128941|PMID:30295827|PMID:30311386|PMID:30477285|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30655312|PMID:30691124|PMID:30773290|PMID:30919572|PMID:31027891|PMID:31096494|PMID:31138263|PMID:31144478|PMID:31576025|PMID:31850286|PMID:32405592|PMID:32659759|PMID:32939031|PMID:33040356|PMID:33309955|PMID:33532864|PMID:33633790|PMID:34008892|PMID:34215756|PMID:34400539|PMID:35802133|PMID:36633841|PMID:6650503|PMID:7485125|PMID:7599631|PMID:7695699|PMID:7969679|PMID:8218237|PMID:8406498|PMID:8433568|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8738805|PMID:8807602|PMID:8825605|PMID:8887300|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9536098|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:0111365 benign familial hematuria ISO RGD:1351504 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:10763 hypertension ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30691124|PMID:31850286|PMID:33309955|PMID:34008892|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:10952 nephritis ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephritis PMID:25741868 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:10983 Alport syndrome ISO RGD:1351504 D RGD:1600687|PMID:2349482 20070323 RGD Alport Syndrome, OMIM:301050, DNA:deletion:exons 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:10983 Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:10563487|PMID:10752524|PMID:11223851|PMID:12028435|PMID:14514738|PMID:15044104|PMID:15780079|PMID:15954103|PMID:17396119|PMID:18083113|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20301386|PMID:20378821|PMID:21332469|PMID:21688191|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24854265|PMID:25525159|PMID:25572247|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28542346|PMID:28844315|PMID:29127259|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30577881|PMID:30655312|PMID:30691124|PMID:30773290|PMID:30968591|PMID:31850286|PMID:31922066|PMID:32405592|PMID:33309955|PMID:33532864|PMID:34008892|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:1184 nephrotic syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15044104|PMID:19344236|PMID:20378821|PMID:23720012|PMID:24130771|PMID:25741868|PMID:27627812|PMID:28492532|PMID:28542346|PMID:29127259|PMID:32405592|PMID:7599631|PMID:7695699|PMID:8218237|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:12849 autistic disorder ISO RGD:1351504 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10561141|PMID:10752524|PMID:14514738|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:28844315|PMID:8648925|PMID:9195222 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:557 kidney disease ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10094548|PMID:10561141|PMID:11462238|PMID:12105244|PMID:15780079|PMID:15957001|PMID:17576681|PMID:18343956|PMID:19965530|PMID:22921432|PMID:22995991|PMID:23967202|PMID:24033266|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:26467025|PMID:27627812|PMID:27725732|PMID:28492532|PMID:28827396|PMID:30311386|PMID:30477285|PMID:30577881|PMID:31138263|PMID:31576025|PMID:8406498|PMID:8455372|PMID:8940267|PMID:9536098 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:576 proteinuria ISO RGD:1351504 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:630 genetic disease ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094548|PMID:19344236|PMID:23720012|PMID:25741868|PMID:27627812|PMID:28492532|PMID:30311386|PMID:7695699|PMID:8218237 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:9000104 Glomerular Diseases ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulopathy PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30691124|PMID:31850286|PMID:33309955|PMID:34008892|PMID:9848783 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:9000363 Hematuria ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematuria PMID:11223851|PMID:12028435|PMID:12796257|PMID:14514738|PMID:14604828|PMID:18083113|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:21505094|PMID:21848006|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:29144512|PMID:29526710|PMID:30311386|PMID:31027891|PMID:9150741 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:9001767 Unilateral Hearing Loss ISO RGD:1351504 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Unilateral deafness PMID:25741868 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:9004538 Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10094548|PMID:11462238|PMID:12105244|PMID:15957001|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:30477285|PMID:8406498|PMID:8455372|PMID:9536098 1565499 Col4a5 collagen type IV alpha 5 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1351504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 1565500 Mt4 metallothionein 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565500 Mt4 metallothionein 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565500 Mt4 metallothionein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565500 Mt4 metallothionein 4 gene DOID:557 kidney disease ISO RGD:1343695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921116 1565500 Mt4 metallothionein 4 gene DOID:630 genetic disease ISO RGD:1343695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565500 Mt4 metallothionein 4 gene DOID:9008914 Lead Poisoning ISO RGD:1343695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921116 1565501 Vwc2l von Willebrand factor C domain containing 2 like gene DOID:630 genetic disease ISO RGD:2859445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565501 Vwc2l von Willebrand factor C domain containing 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2859445 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565505 Glis3 GLIS family zinc finger 3 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:32693112|PMID:35394098 1565505 Glis3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:7240710 20130731 OMIM 1565505 Glis3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism PMID:12966531|PMID:16715098|PMID:18263616|PMID:18414213|PMID:23856252|PMID:24033266|PMID:25741868|PMID:26259131|PMID:27899417|PMID:28253873|PMID:28444304|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32425884|PMID:32693112|PMID:35394098 1565505 Glis3 GLIS family zinc finger 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1565505 Glis3 GLIS family zinc finger 3 gene DOID:0070093 schizophrenia 18 ISO RGD:1348907 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 1565505 Glis3 GLIS family zinc finger 3 gene DOID:12271 aniridia ISO RGD:1348907 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 1565505 Glis3 GLIS family zinc finger 3 gene DOID:13550 angle-closure glaucoma ISO RGD:1348907 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 1565505 Glis3 GLIS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565505 Glis3 GLIS family zinc finger 3 gene DOID:9351 diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32693112|PMID:35394098 1565505 Glis3 GLIS family zinc finger 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348907 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 1565505 Glis3 GLIS family zinc finger 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348907 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 1565511 Septin12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:7240710 20140903 OMIM 1565511 Septin12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 10 PMID:22275165|PMID:22479503 1565511 Septin12 septin 12 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1565511 Septin12 septin 12 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604543 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1565511 Septin12 septin 12 gene DOID:1826 epilepsy ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1565511 Septin12 septin 12 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1565511 Septin12 septin 12 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1565511 Septin12 septin 12 gene DOID:630 genetic disease ISO RGD:1604543 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565514 Map7d3 MAP7 domain containing 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565514 Map7d3 MAP7 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606231 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565514 Map7d3 MAP7 domain containing 3 gene DOID:0060825 Christianson syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565514 Map7d3 MAP7 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1606231 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565514 Map7d3 MAP7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565514 Map7d3 MAP7 domain containing 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565514 Map7d3 MAP7 domain containing 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 1565518 Irx5 iroquois homeobox 5 gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:0050777 Joubert syndrome ISO RGD:1320389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 1565518 Irx5 iroquois homeobox 5 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:11830 myopia ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:13714 anodontia ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:1400 lacrimal apparatus disease ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:630 genetic disease ISO RGD:1320389 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565518 Irx5 iroquois homeobox 5 gene DOID:850 lung disease ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 1565518 Irx5 iroquois homeobox 5 gene DOID:9002589 Bone Fractures ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565518 Irx5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:7240710 20141015 OMIM 1565518 Irx5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hamamy syndrome PMID:17230486|PMID:22581230|PMID:25741868|PMID:28492532|PMID:34899143 1565518 Irx5 iroquois homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 1565519 Prmt2 protein arginine methyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1605435 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1565519 Prmt2 protein arginine methyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605435 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565519 Prmt2 protein arginine methyltransferase 2 gene DOID:2841 asthma IEP D RGD:9491823|PMID:20423833 20140912 RGD mRNA:increased expression:lung, spleen 1565519 Prmt2 protein arginine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565522 Tmem132e transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:7240710 20190710 OMIM 1565522 Tmem132e transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 99 PMID:12673573|PMID:25331638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31656313 1565522 Tmem132e transmembrane protein 132E gene DOID:630 genetic disease ISO RGD:1603364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565522 Tmem132e transmembrane protein 132E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603364 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565523 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1354131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565523 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:7240710 20210825 OMIM 1565523 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 PMID:33230297 1565524 Pyurf PIGY upstream open reading frame gene DOID:630 genetic disease ISO RGD:6893022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565524 Pyurf PIGY upstream open reading frame gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:6893022 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1565524 Pyurf PIGY upstream open reading frame gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:0050476 Barth syndrome ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:0050800 creatine transporter deficiency ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345424 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:12849 autistic disorder ISO RGD:1345424 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:13628 favism ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:2729 dyskeratosis congenita ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:607 paraplegia ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:630 genetic disease ISO RGD:1345424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565535 Dusp9 dual specificity phosphatase 9 gene DOID:9002720 Splenomegaly ISO RGD:1345424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1565536 Ccdc9b coiled-coil domain containing 9B gene DOID:2717 Bloom syndrome ISO RGD:1602266 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1565536 Ccdc9b coiled-coil domain containing 9B gene DOID:9256 colorectal cancer ISO RGD:1602266 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1565537 Sap30bp SAP30 binding protein gene DOID:5419 schizophrenia ISO RGD:1602722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1565537 Sap30bp SAP30 binding protein gene DOID:630 genetic disease ISO RGD:1602722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565539 Col24a1 collagen type XXIV alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:1349074 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1565539 Col24a1 collagen type XXIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1349074 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19204719|PMID:9724608 1565542 Npm3 nucleophosmin/nucleoplasmin, 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1349032 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1565542 Npm3 nucleophosmin/nucleoplasmin, 3 gene DOID:630 genetic disease ISO RGD:1349032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565542 Npm3 nucleophosmin/nucleoplasmin, 3 gene DOID:9006205 Animal Disease Models ISO RGD:1349032 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1565545 Zfp865 zinc finger protein 865 gene DOID:630 genetic disease ISO RGD:1602066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565549 Pbrm1 polybromo 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1605656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1565549 Pbrm1 polybromo 1 gene DOID:1793 pancreatic cancer ISO RGD:1605656 D RGD:8694154|PMID:23355908 20140725 RGD 1565549 Pbrm1 polybromo 1 gene DOID:3275 thymoma ISO RGD:1605656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 1565549 Pbrm1 polybromo 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1605656 D RGD:150340631|PMID:25536104 20210824 RGD 1565549 Pbrm1 polybromo 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605656 D RGD:150340625|PMID:32195359 20210823 RGD 1565549 Pbrm1 polybromo 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 1565549 Pbrm1 polybromo 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605656 D RGD:6907137|PMID:21654818 20121030 RGD 1565549 Pbrm1 polybromo 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605656 D RGD:7240710 20210707 OMIM 1565549 Pbrm1 polybromo 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605656 D RGD:8554872 20180501 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25911086 1565549 Pbrm1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1605656 D RGD:150340628|PMID:27864835 20210823 RGD 1565549 Pbrm1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 1565549 Pbrm1 polybromo 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1605656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 1565549 Pbrm1 polybromo 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605656 D RGD:127285383|PMID:29748005 20210823 RGD 1565549 Pbrm1 polybromo 1 gene DOID:8778 Crohn's disease ISO RGD:1605656 D RGD:150340627|PMID:28940253 20210823 RGD mRNA:decreased expression:colon 1565549 Pbrm1 polybromo 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9586349|PMID:23702776 20141029 RGD associated with Hypertension;protein:increased expression:heart left ventricle 1565549 Pbrm1 polybromo 1 gene DOID:9256 colorectal cancer severity ISO RGD:1605656 D RGD:150340627|PMID:28940253 20210823 RGD 1565551 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605035 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1565551 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1605035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1565551 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:7240710 20130221 OMIM 1565551 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:16199547|PMID:17576681|PMID:17710875|PMID:18049083|PMID:18175354|PMID:18414213|PMID:19026396|PMID:20507343|PMID:21044051|PMID:21964978|PMID:24015686|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26612766|PMID:26633545|PMID:26664771|PMID:27489925|PMID:28492532|PMID:29546359|PMID:31347785|PMID:35876063|PMID:6876115|PMID:9536098 1565551 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:630 genetic disease ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565556 Anks1b ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:630 genetic disease ISO RGD:1602104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565556 Anks1b ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:893 Wilson disease ISO RGD:1602104 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 1565557 Aplf aprataxin and PNKP like factor gene DOID:630 genetic disease ISO RGD:1344091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565558 Rspo1 R-spondin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603515 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1565558 Rspo1 R-spondin 1 gene DOID:4001 ovarian carcinoma ISO RGD:1603515 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 1565558 Rspo1 R-spondin 1 gene DOID:630 genetic disease ISO RGD:1603515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565558 Rspo1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:7240710 20170726 OMIM 1565558 Rspo1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal PMID:16158431|PMID:17041600|PMID:25741868|PMID:28492532 1565558 Rspo1 R-spondin 1 gene DOID:9004267 Palmoplantar Hyperkeratosis and True Hermaphroditism ISO RGD:1603515 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism PMID:18085567 1565561 Mboat1 membrane bound O-acyltransferase domain containing 1 gene DOID:13580 cholestasis ISO RGD:1322766 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1565561 Mboat1 membrane bound O-acyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565564 Krt90 keratin 90 gene DOID:9005369 Hepatomegaly ISO RGD:1620571 D RGD:11554173 20221206 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1565570 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1565570 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347101 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565570 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347101 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565570 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1347101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:1882 atrial heart septal defect ISO RGD:1348081 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:31834374 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3302 chordoma ISO RGD:1348081 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Chordoma 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3565 meningioma ISO RGD:1348081 D RGD:1600423|PMID:7731706 20070308 RGD DNA:translocation 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3565 meningioma ISO RGD:1348081 D RGD:1624321|PMID:16398473 20070508 RGD 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348081 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:31834374 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:7240710 20230505 OMIM 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1348081 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:8692 myeloid leukemia ISO RGD:1348081 D RGD:1600424|PMID:7731705 20070308 RGD acute myeloid leukemia, DNA:translocation 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:7240710 20200318 OMIM 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22451504|PMID:22965664|PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267|PMID:33351070|PMID:33351141 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348081 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1565571 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1348081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 1565575 Setx senataxin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868 1565575 Setx senataxin gene DOID:0050753 cerebellar ataxia ISO RGD:1347866 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:26467025 1565575 Setx senataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1347866 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:32488064 1565575 Setx senataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1347866 D RGD:7240710 20130221 OMIM 1565575 Setx senataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:14770181|PMID:15732101|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:18625865|PMID:19569000|PMID:19696032|PMID:20540686|PMID:20981092|PMID:21190393|PMID:22088787|PMID:23129421|PMID:23757202|PMID:23806086|PMID:23881933|PMID:23941260|PMID:24033266|PMID:24088041|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25326635|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26257172|PMID:26467025|PMID:26601740|PMID:26633545|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29482223|PMID:29650794|PMID:30198223|PMID:30564185|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32253937|PMID:32397312|PMID:33098801|PMID:9536098 1565575 Setx senataxin gene DOID:0050952 spastic ataxia ISO RGD:1347866 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708278 1565575 Setx senataxin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:23757202|PMID:25741868|PMID:28492532 1565575 Setx senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:7240710 20130221 OMIM 1565575 Setx senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 PMID:14770181|PMID:15106121|PMID:16199547|PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23111195|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24105744|PMID:24108619|PMID:24244371|PMID:24760770|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25927548|PMID:26467025|PMID:26601740|PMID:26752306|PMID:27013921|PMID:27422356|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:30642639|PMID:30778698|PMID:31325016|PMID:31429931|PMID:31432357|PMID:31656689|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:33098801|PMID:33956305|PMID:34565360|PMID:9497266|PMID:9536098 1565575 Setx senataxin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1565575 Setx senataxin gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1565575 Setx senataxin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1565575 Setx senataxin gene DOID:0081097 Rafiq syndrome ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1565575 Setx senataxin gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:19696032|PMID:22088787|PMID:25741868|PMID:26467025|PMID:28492532 1565575 Setx senataxin gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1347866 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24533459 1565575 Setx senataxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15732101|PMID:16717225|PMID:19696032|PMID:25025039|PMID:25741868|PMID:25802885|PMID:26467025|PMID:28492532 1565575 Setx senataxin gene DOID:12377 spinal muscular atrophy ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy PMID:15106121|PMID:21438761|PMID:21576111|PMID:22088787|PMID:24105744|PMID:24244371|PMID:25741868|PMID:28492532|PMID:9497266 1565575 Setx senataxin gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347866 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1565575 Setx senataxin gene DOID:1969 cerebral palsy ISO RGD:1347866 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18414213|PMID:24088041|PMID:25741868|PMID:26633545 1565575 Setx senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:31957062|PMID:32253937|PMID:9536098 1565575 Setx senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29650794|PMID:31957062|PMID:32253937|PMID:9536098 1565575 Setx senataxin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18058631|PMID:23129421|PMID:23881933|PMID:25741868|PMID:26467025|PMID:27790088|PMID:28492532|PMID:28832565|PMID:32253937 1565575 Setx senataxin gene DOID:3320 Tay-Sachs disease ISO RGD:1347866 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:28492532 1565575 Setx senataxin gene DOID:3652 Leigh disease ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1565575 Setx senataxin gene DOID:543 dystonia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532 1565575 Setx senataxin gene DOID:607 paraplegia ISO RGD:1347866 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17159128|PMID:19569000|PMID:20981092|PMID:23941260|PMID:25741868|PMID:26467025|PMID:28492532 1565575 Setx senataxin gene DOID:630 genetic disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:9536098 1565575 Setx senataxin gene DOID:9255 frontotemporal dementia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:26467025|PMID:28492532 1565577 Gmip Gem-interacting protein gene DOID:630 genetic disease ISO RGD:1344953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565582 Ptcd3 Pentatricopeptide repeat domain 3 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1565582 Ptcd3 Pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:7240710 20201111 OMIM 1565582 Ptcd3 Pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 PMID:25741868|PMID:30607703 1565582 Ptcd3 Pentatricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1605991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565582 Ptcd3 Pentatricopeptide repeat domain 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1605991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 1565583 Fam83d family with sequence similarity 83, member D gene DOID:2234 focal epilepsy ISO RGD:1347604 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1565583 Fam83d family with sequence similarity 83, member D gene DOID:3068 glioblastoma ISO RGD:1347604 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35150198 1565583 Fam83d family with sequence similarity 83, member D gene DOID:630 genetic disease ISO RGD:1347604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565583 Fam83d family with sequence similarity 83, member D gene DOID:684 hepatocellular carcinoma ISO RGD:1347604 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1565584 Crebzf CREB/ATF bZIP transcription factor gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603614 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1565584 Crebzf CREB/ATF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:1603614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565584 Crebzf CREB/ATF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:1603614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565585 Snx12 sorting nexin 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350610 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565585 Snx12 sorting nexin 12 gene DOID:12849 autistic disorder ISO RGD:1350610 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565585 Snx12 sorting nexin 12 gene DOID:630 genetic disease ISO RGD:1350610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565585 Snx12 sorting nexin 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 1565589 Wdr26 WD repeat domain 26 gene DOID:1059 intellectual disability ISO RGD:1348746 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1565589 Wdr26 WD repeat domain 26 gene DOID:1540 parathyroid carcinoma ISO RGD:1348746 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565589 Wdr26 WD repeat domain 26 gene DOID:1826 epilepsy ISO RGD:1348746 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1565589 Wdr26 WD repeat domain 26 gene DOID:2843 long QT syndrome ISO RGD:1348746 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1565589 Wdr26 WD repeat domain 26 gene DOID:630 genetic disease ISO RGD:1348746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28518168|PMID:32461654 1565589 Wdr26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:7240710 20190315 OMIM 1565589 Wdr26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skraban-Deardorff syndrome PMID:25741868|PMID:25741869|PMID:28492532|PMID:28686853|PMID:36269129 1565589 Wdr26 WD repeat domain 26 gene DOID:9008582 Developmental Disease ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1565589 Wdr26 WD repeat domain 26 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348746 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565591 Ski Ski proto-oncogene gene DOID:0060041 autism spectrum disorder ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342955 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1565591 Ski Ski proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29168297|PMID:33436942|PMID:9536098 1565591 Ski Ski proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29168297|PMID:29543232|PMID:31322791|PMID:33436942|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 1565591 Ski Ski proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 1565591 Ski Ski proto-oncogene gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868|PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:0080074 neural tube defect ISO RGD:1342955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 1565591 Ski Ski proto-oncogene gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1342955 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1342955 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:0110994 Joubert syndrome 25 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565591 Ski Ski proto-oncogene gene DOID:0111934 immunodeficiency 38 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565591 Ski Ski proto-oncogene gene DOID:0111935 immunodeficiency 16 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565591 Ski Ski proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1342955 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946 1565591 Ski Ski proto-oncogene gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:3627 aortic aneurysm ISO RGD:1342955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23023332 1565591 Ski Ski proto-oncogene gene DOID:630 genetic disease ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:28492532|PMID:31980905|PMID:33416497|PMID:33436942 1565591 Ski Ski proto-oncogene gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1342955 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23023332|PMID:25363760|PMID:25741868|PMID:33416497 1565591 Ski Ski proto-oncogene gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 1565591 Ski Ski proto-oncogene gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 1565591 Ski Ski proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23023332 1565591 Ski Ski proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:7240710 20130731 OMIM 1565591 Ski Ski proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 1565591 Ski Ski proto-oncogene gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565591 Ski Ski proto-oncogene gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1342955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:25741868 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:7240710 20210421 OMIM 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 PMID:18414213|PMID:21739600|PMID:22773736|PMID:23562910|PMID:25741868|PMID:28492532 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:1059 intellectual disability ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1343236 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:14261 fragile X syndrome ISO RGD:1343236 D RGD:11554173 20210429 CTD CTD Direct Evidence: marker/mechanism 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343236 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1343236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868 1565592 Aff2 ALF transcription elongation factor 2 gene DOID:9007661 Dwarfism ISO RGD:1343236 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1565593 Cdk17 cyclin-dependent kinase 17 gene DOID:2377 multiple sclerosis ISO RGD:1343326 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1565593 Cdk17 cyclin-dependent kinase 17 gene DOID:630 genetic disease ISO RGD:1343326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565596 H1f10 H1.10 linker histone gene DOID:0080600 COVID-19 ISO RGD:1354284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565596 H1f10 H1.10 linker histone gene DOID:0111947 immunodeficiency 21 ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1565596 H1f10 H1.10 linker histone gene DOID:3910 lung adenocarcinoma ISO RGD:1620558 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1565596 H1f10 H1.10 linker histone gene DOID:630 genetic disease ISO RGD:1354284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565596 H1f10 H1.10 linker histone gene DOID:9006205 Animal Disease Models ISO RGD:1620558 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1565596 H1f10 H1.10 linker histone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1565596 H1f10 H1.10 linker histone gene DOID:9270 alkaptonuria ISO RGD:1354284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1565601 Drc7 dynein regulatory complex subunit 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565601 Drc7 dynein regulatory complex subunit 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565601 Drc7 dynein regulatory complex subunit 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565601 Drc7 dynein regulatory complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565602 Kdm5b lysine demethylase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 1565602 Kdm5b lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:7240710 20190315 OMIM 1565602 Kdm5b lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806 1565602 Kdm5b lysine demethylase 5B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1565602 Kdm5b lysine demethylase 5B gene DOID:10283 prostate cancer severity ISO RGD:1322449 D RGD:9587744|PMID:18048344 20141016 RGD mRNA:increased expression:prostate gland (human) 1565602 Kdm5b lysine demethylase 5B gene DOID:1059 intellectual disability ISO RGD:1322449 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565602 Kdm5b lysine demethylase 5B gene DOID:11054 urinary bladder cancer ISO RGD:1322449 D RGD:9587778|PMID:20226085 20141017 RGD mRNA:increased expression:urinary bladder (human) 1565602 Kdm5b lysine demethylase 5B gene DOID:1540 parathyroid carcinoma ISO RGD:1322449 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565602 Kdm5b lysine demethylase 5B gene DOID:1612 breast cancer treatment ISO RGD:1322449 D RGD:9587774|PMID:21369698 20141017 RGD human gene in a mouse model 1565602 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma ISO RGD:1322449 D RGD:13702126|PMID:25450384 20180717 RGD 1565602 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma disease_progression ISO RGD:1322449 D RGD:13702126|PMID:25450384 20180717 RGD 1565602 Kdm5b lysine demethylase 5B gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1322449 D RGD:9587776|PMID:22534467 20141017 RGD protein:increased expression:esophageal mucosa, cytoplasm (human) 1565602 Kdm5b lysine demethylase 5B gene DOID:6039 uveal melanoma severity ISO RGD:1322449 D RGD:9587775|PMID:22669717 20141017 RGD protein:increased expression:uvea (human) 1565602 Kdm5b lysine demethylase 5B gene DOID:630 genetic disease ISO RGD:1322449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565602 Kdm5b lysine demethylase 5B gene DOID:9002928 Colonic Neoplasms ISO RGD:1322449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 1565602 Kdm5b lysine demethylase 5B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1565602 Kdm5b lysine demethylase 5B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1322449 D RGD:9587777|PMID:23354547 20141017 RGD 1565602 Kdm5b lysine demethylase 5B gene DOID:9008582 Developmental Disease ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1565602 Kdm5b lysine demethylase 5B gene DOID:9008939 Breast Neoplasms severity ISO RGD:1322449 D RGD:9587743|PMID:10336460 20141016 RGD mRNA:increased expression:breast (human) 1565602 Kdm5b lysine demethylase 5B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322449 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565606 Fam83a family with sequence similarity 83, member A gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602845 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1565606 Fam83a family with sequence similarity 83, member A gene DOID:630 genetic disease ISO RGD:1602845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565606 Fam83a family with sequence similarity 83, member A gene DOID:9000918 Disease Progression ISO RGD:1602845 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 1565606 Fam83a family with sequence similarity 83, member A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602845 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 1565606 Fam83a family with sequence similarity 83, member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602845 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 1565609 Fgd6 FYVE, RhoGEF and PH domain containing 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1319292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27089177 1565609 Fgd6 FYVE, RhoGEF and PH domain containing 6 gene DOID:1790 malignant mesothelioma ISO RGD:1319292 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 1565609 Fgd6 FYVE, RhoGEF and PH domain containing 6 gene DOID:630 genetic disease ISO RGD:1319292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565610 Morc1 MORC family CW-type zinc finger 1 gene DOID:11372 megacolon ISO RGD:1321422 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1565610 Morc1 MORC family CW-type zinc finger 1 gene DOID:1595 melancholic depression ISS RGD:1620107 D RGD:13592920 20220811 MouseDO OMIM:608516 1565610 Morc1 MORC family CW-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1321422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565611 Liat1 ligand of ATE1 gene DOID:630 genetic disease ISO RGD:1606638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565613 Bpifb3 BPI fold containing family B, member 3 gene DOID:630 genetic disease ISO RGD:1604466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565615 Trim52 tripartite motif-containing 52 gene DOID:630 genetic disease ISO RGD:1347364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565616 Dnaaf9 dynein axonemal assembly factor 9 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1565616 Dnaaf9 dynein axonemal assembly factor 9 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1565616 Dnaaf9 dynein axonemal assembly factor 9 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1349038 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 1565619 Cep120 centrosomal protein 120 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601819 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1565619 Cep120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:7240710 20190315 OMIM 1565619 Cep120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 31 PMID:17576681|PMID:25741868|PMID:27208211|PMID:28492532|PMID:9536098 1565619 Cep120 centrosomal protein 120 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565619 Cep120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:7240710 20170412 OMIM 1565619 Cep120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly PMID:16199547|PMID:17576681|PMID:25251415|PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808|PMID:30866059|PMID:30988386|PMID:9536098 1565619 Cep120 centrosomal protein 120 gene DOID:630 genetic disease ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565619 Cep120 centrosomal protein 120 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601819 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565619 Cep120 centrosomal protein 120 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565626 Lce1f late cornified envelope 1F gene DOID:0111940 immunodeficiency 42 ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1565626 Lce1f late cornified envelope 1F gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1565626 Lce1f late cornified envelope 1F gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1565626 Lce1f late cornified envelope 1F gene DOID:1540 parathyroid carcinoma ISO RGD:1346167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565626 Lce1f late cornified envelope 1F gene DOID:5812 MHC class II deficiency ISO RGD:1346167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1565626 Lce1f late cornified envelope 1F gene DOID:630 genetic disease ISO RGD:1346167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565626 Lce1f late cornified envelope 1F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346167 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:0050439 Usher syndrome ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:1059 intellectual disability ISO RGD:1602172 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32552793|PMID:33532864|PMID:33594065|PMID:34526762|PMID:35886001|PMID:9536098 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:9536098 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:8501 fundus dystrophy ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:16199547|PMID:17065520|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1565630 Zdhhc24 zinc finger, DHHC-type containing 24 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1565632 Prrc1 proline-rich coiled-coil 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565632 Prrc1 proline-rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1601934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565632 Prrc1 proline-rich coiled-coil 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601934 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565632 Prrc1 proline-rich coiled-coil 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1565640 Iqcf1 IQ motif containing F1 gene DOID:630 genetic disease ISO RGD:1348129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0060041 autism spectrum disorder ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:1606024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:1606024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 PMID:25741868 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606024 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:7240710 20141015 OMIM 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome PMID:11522779|PMID:11746027|PMID:17576681|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:23763483|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28492532|PMID:31200758|PMID:33909990|PMID:9536098 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:1059 intellectual disability ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32581362 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:10907 microcephaly ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:630 genetic disease ISO RGD:1606024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11522779|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28166811|PMID:28492532|PMID:31200758|PMID:33408077|PMID:33909990 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:7240710 20220209 OMIM 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:33909990 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606024 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33909990 1565642 Srcap Snf2-related CREBBP activator protein gene DOID:9008582 Developmental Disease ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1565643 Bmx BMX non-receptor tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605440 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565643 Bmx BMX non-receptor tyrosine kinase gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1565643 Bmx BMX non-receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1605440 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565643 Bmx BMX non-receptor tyrosine kinase gene DOID:13636 Fanconi anemia ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1565643 Bmx BMX non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1605440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565643 Bmx BMX non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605440 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565644 Ldoc1 LDOC1, regulator of NFKB signaling gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1565644 Ldoc1 LDOC1, regulator of NFKB signaling gene DOID:12849 autistic disorder ISO RGD:1344664 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565644 Ldoc1 LDOC1, regulator of NFKB signaling gene DOID:630 genetic disease ISO RGD:1344664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565646 Sox2 SRY-box transcription factor 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1344695 D RGD:8661665|PMID:21689966 20140611 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:0060857 septooptic dysplasia ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:16283891|PMID:16892407|PMID:16932809|PMID:18285410|PMID:18831064|PMID:24804704|PMID:25741868|PMID:26250054|PMID:27206652|PMID:28492532|PMID:35885948 1565646 Sox2 SRY-box transcription factor 2 gene DOID:0111546 Currarino syndrome ISO RGD:1344695 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1565646 Sox2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:7240710 20130221 OMIM 1565646 Sox2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:12002146|PMID:12612584|PMID:15346919|PMID:15389708|PMID:15812812|PMID:16145681|PMID:16283891|PMID:16470798|PMID:16543359|PMID:16712695|PMID:16892407|PMID:16932809|PMID:17219395|PMID:17522144|PMID:18285410|PMID:18385377|PMID:18831064|PMID:19254784|PMID:19921648|PMID:20803647|PMID:21326281|PMID:22171155|PMID:22421044|PMID:23701296|PMID:24498598|PMID:24804704|PMID:25542770|PMID:25741868|PMID:26250054|PMID:26938784|PMID:27206652|PMID:27427475|PMID:28121235|PMID:28492532|PMID:30450772|PMID:32870266|PMID:33914258|PMID:35885948 1565646 Sox2 SRY-box transcription factor 2 gene DOID:10629 microphthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 1565646 Sox2 SRY-box transcription factor 2 gene DOID:10811 nasal cavity cancer ISO RGD:1344695 D RGD:8661654|PMID:23544055 20140611 RGD DNA:amplification 1565646 Sox2 SRY-box transcription factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1344695 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:29396848 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1115 sarcoma ISO RGD:1344695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 1565646 Sox2 SRY-box transcription factor 2 gene DOID:12270 coloboma ISO RGD:1344695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chorioretinal coloboma PMID:25741868 1565646 Sox2 SRY-box transcription factor 2 gene DOID:12271 aniridia ISO RGD:1344695 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1565646 Sox2 SRY-box transcription factor 2 gene DOID:13938 amenorrhea ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1344695 D RGD:8661657|PMID:22832207 20140611 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1344695 D RGD:8661663|PMID:21822303 20140611 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1612 breast cancer treatment ISO RGD:1344695 D RGD:8661656|PMID:22561374 20140611 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:8661666|PMID:23518916 20140611 RGD protein:increased expression:mammalian vulva, epithelium 1565646 Sox2 SRY-box transcription factor 2 gene DOID:1909 melanoma disease_progression ISO RGD:1344695 D RGD:8661664|PMID:21410764 20140611 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1344695 D RGD:8661672|PMID:22899292 20140612 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1344695 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 1565646 Sox2 SRY-box transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344695 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 1565646 Sox2 SRY-box transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344695 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25184679 1565646 Sox2 SRY-box transcription factor 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344695 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1565646 Sox2 SRY-box transcription factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1344695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 1565646 Sox2 SRY-box transcription factor 2 gene DOID:6000 congestive heart failure IMP D RGD:155882552|PMID:34321385 20230130 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12002146|PMID:12923055|PMID:16582099|PMID:16932809|PMID:17219395|PMID:22421044|PMID:24804704|PMID:28492532 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:8661675|PMID:23169458 20140612 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1344695 D RGD:8661670|PMID:24382260 20140612 RGD associated with Breast Neoplasms 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9002049 Anophthalmia ISO RGD:1344695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532573 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9002049 Anophthalmia ISO RGD:1344695 D RGD:1599088|PMID:12612584 20070116 RGD DNA:nonsense mutations: :multiple 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9002049 Anophthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344695 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9003623 Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system PMID:16932809|PMID:22421044|PMID:28492532 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9004866 Ataxia ISO RGD:1344695 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:29732603 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344695 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1344695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8661677|PMID:23828673 20140612 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9007102 Myocardial Ischemia IMP D RGD:155882552|PMID:34321385 20230130 RGD 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1344695 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1344695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:8661660|PMID:19921648 20140611 RGD DNA:mutations: :multiple 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:8661661|PMID:19471311 20140611 RGD DNA:missense mutation: :p.D123G (human) 1565646 Sox2 SRY-box transcription factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1565652 Frmpd2 FERM and PDZ domain containing 2 gene DOID:11372 megacolon ISO RGD:1349524 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1565652 Frmpd2 FERM and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1349524 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565652 Frmpd2 FERM and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:1349524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565662 Mageb6 MAGE family member B6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348631 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565662 Mageb6 MAGE family member B6 gene DOID:12849 autistic disorder ISO RGD:1348631 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565662 Mageb6 MAGE family member B6 gene DOID:630 genetic disease ISO RGD:1348631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565662 Mageb6 MAGE family member B6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348631 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1346895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19675306 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1346895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:10577904|PMID:11231901|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:21143860|PMID:21270641|PMID:22416021|PMID:23477994|PMID:24033266|PMID:24498942|PMID:24912412|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29363216|PMID:30067075|PMID:30868567|PMID:31589614|PMID:33032373|PMID:9536098 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1346895 D RGD:1601083|PMID:11231901 20070405 RGD DNA:missense mutation, insertion, deletion:exon, intron:p.G515S 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0050545 visceral heterotaxy ISS RGD:1556874 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346895 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346895 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346895 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1346895 D RGD:7240710 20200226 OMIM 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1346895 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:12336 male infertility ISO RGD:1346895 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:5223 infertility ISO RGD:1346895 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868|PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1346895 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577904|PMID:11231901|PMID:16858015|PMID:17576681|PMID:18434704|PMID:21143860|PMID:23477994|PMID:24033266|PMID:25741868|PMID:26918822|PMID:28492532|PMID:29363216|PMID:30067075|PMID:9536098 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1346895 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10577904|PMID:11231901|PMID:11713099|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:19675306|PMID:21143860|PMID:21270641|PMID:23477994|PMID:24033266|PMID:24498942|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29095814|PMID:29363216|PMID:30067075|PMID:30300419|PMID:30868567|PMID:31589614|PMID:31650533|PMID:31772028|PMID:33032373|PMID:33131162|PMID:33715250|PMID:34445527|PMID:9536098 1565671 Dnai1 dynein, axonemal, intermediate chain 1 gene DOID:9870 galactosemia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1565672 Mtbp MDM2 binding protein gene DOID:10283 prostate cancer ISO RGD:1354048 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1565672 Mtbp MDM2 binding protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354048 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1565672 Mtbp MDM2 binding protein gene DOID:630 genetic disease ISO RGD:1354048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565672 Mtbp MDM2 binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354048 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29765550 1565673 Ttf1 transcription termination factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1565673 Ttf1 transcription termination factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1565673 Ttf1 transcription termination factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1565673 Ttf1 transcription termination factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1565673 Ttf1 transcription termination factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352742 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1565673 Ttf1 transcription termination factor 1 gene DOID:3652 Leigh disease ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1565673 Ttf1 transcription termination factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1352742 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 1565673 Ttf1 transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:1352742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565674 Mid2 midline 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1602493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1565674 Mid2 midline 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602493 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565674 Mid2 midline 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1602493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 1565674 Mid2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:7240710 20170510 OMIM 1565674 Mid2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:24115387|PMID:25741868 1565674 Mid2 midline 2 gene DOID:10485 esophageal atresia ISO RGD:1602493 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1565674 Mid2 midline 2 gene DOID:12849 autistic disorder ISO RGD:1602493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565674 Mid2 midline 2 gene DOID:630 genetic disease ISO RGD:1602493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1565675 Coprs coordinator of PRMT5 and differentiation stimulator gene DOID:1969 cerebral palsy ISO RGD:1602321 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1565675 Coprs coordinator of PRMT5 and differentiation stimulator gene DOID:630 genetic disease ISO RGD:1602321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565675 Coprs coordinator of PRMT5 and differentiation stimulator gene DOID:9008086 Developmental Disabilities ISO RGD:1602321 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1565681 Cenpv centromere protein V gene DOID:630 genetic disease ISO RGD:1351678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352581 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:12849 autistic disorder ISO RGD:1352581 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:630 genetic disease ISO RGD:1352581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352581 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565685 RGD1565685 similar to RIKEN cDNA 1810030O07 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352581 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1565687 Mroh2a maestro heat-like repeat family member 2A gene DOID:0060476 Perlman syndrome ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1565687 Mroh2a maestro heat-like repeat family member 2A gene DOID:0110991 Joubert syndrome 22 ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1565688 Khnyn KH and NYN domain containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1565688 Khnyn KH and NYN domain containing gene DOID:630 genetic disease ISO RGD:1316201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565688 Khnyn KH and NYN domain containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316201 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1565688 Khnyn KH and NYN domain containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316201 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1565690 Gprin3 GPRIN family member 3 gene DOID:630 genetic disease ISO RGD:1604710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565690 Gprin3 GPRIN family member 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604710 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348120 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348120 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348120 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:12849 autistic disorder ISO RGD:1348120 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:3070 high grade glioma ISO RGD:1348120 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1348120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:9004203 Chromosome Breakage ISO RGD:1348120 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1565692 Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348120 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1565700 Depp1 DEPP autophagy regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1352536 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565700 Depp1 DEPP autophagy regulator 1 gene DOID:289 endometriosis ISO RGD:1352536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1565700 Depp1 DEPP autophagy regulator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 1565700 Depp1 DEPP autophagy regulator 1 gene DOID:9455 lipid storage disease ISO RGD:1352536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 1565703 Gpat3 glycerol-3-phosphate acyltransferase 3 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606210 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 1565703 Gpat3 glycerol-3-phosphate acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565705 Esyt2 extended synaptotagmin 2 gene DOID:12849 autistic disorder ISO RGD:1606520 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565705 Esyt2 extended synaptotagmin 2 gene DOID:5419 schizophrenia ISO RGD:1606520 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565705 Esyt2 extended synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:1606520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565708 Eps15l1 epidermal growth factor receptor pathway substrate 15-like 1 gene DOID:630 genetic disease ISO RGD:1345399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565710 Shisa3 shisa family member 3 gene DOID:630 genetic disease ISO RGD:2292184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565710 Shisa3 shisa family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2292184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565712 Proser3 proline and serine rich 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1565712 Proser3 proline and serine rich 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1565712 Proser3 proline and serine rich 3 gene DOID:543 dystonia ISO RGD:1603570 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1565712 Proser3 proline and serine rich 3 gene DOID:630 genetic disease ISO RGD:1603570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565715 Ankrd37 ankyrin repeat domain 37 gene DOID:12849 autistic disorder ISO RGD:1604164 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565715 Ankrd37 ankyrin repeat domain 37 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604164 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1565715 Ankrd37 ankyrin repeat domain 37 gene DOID:630 genetic disease ISO RGD:1604164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565715 Ankrd37 ankyrin repeat domain 37 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1604164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1565715 Ankrd37 ankyrin repeat domain 37 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1565718 Defb17 defensin beta 17 gene DOID:630 genetic disease ISO RGD:1348391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565719 Tuba3a tubulin, alpha 3A gene DOID:0050453 lissencephaly ISO RGD:1604550 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25558065 1565719 Tuba3a tubulin, alpha 3A gene DOID:630 genetic disease ISO RGD:1604550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565722 Rtp2 receptor (chemosensory) transporter protein 2 gene DOID:5419 schizophrenia ISO RGD:1606102 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565722 Rtp2 receptor (chemosensory) transporter protein 2 gene DOID:630 genetic disease ISO RGD:1606102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565726 Ulk4 unc-51 like kinase 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1565726 Ulk4 unc-51 like kinase 4 gene DOID:1059 intellectual disability ISO RGD:1346964 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate 1565726 Ulk4 unc-51 like kinase 4 gene DOID:10908 hydrocephalus ISS RGD:1608439 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1565726 Ulk4 unc-51 like kinase 4 gene DOID:5419 schizophrenia ISO RGD:1346964 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565726 Ulk4 unc-51 like kinase 4 gene DOID:630 genetic disease ISO RGD:1346964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565726 Ulk4 unc-51 like kinase 4 gene DOID:9538 multiple myeloma ISO RGD:1346964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22120009 1565726 Ulk4 unc-51 like kinase 4 gene DOID:9970 obesity ISO RGD:1346964 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Obesity 1565728 Csmd2 CUB and Sushi multiple domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347365 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1565728 Csmd2 CUB and Sushi multiple domains 2 gene DOID:10283 prostate cancer ISO RGD:1347365 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1565728 Csmd2 CUB and Sushi multiple domains 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1347365 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 1565728 Csmd2 CUB and Sushi multiple domains 2 gene DOID:630 genetic disease ISO RGD:1347365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565729 Prss38 serine protease 38 gene DOID:1540 parathyroid carcinoma ISO RGD:1606403 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565729 Prss38 serine protease 38 gene DOID:630 genetic disease ISO RGD:1606403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565729 Prss38 serine protease 38 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606403 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565731 Ccser1 coiled-coil serine-rich protein 1 gene DOID:13938 amenorrhea ISO RGD:1602258 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1565731 Ccser1 coiled-coil serine-rich protein 1 gene DOID:630 genetic disease ISO RGD:1602258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565731 Ccser1 coiled-coil serine-rich protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1602258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1565734 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606557 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565734 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:12849 autistic disorder ISO RGD:1606557 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565734 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1606557 D RGD:155260359|PMID:35150321 20221005 RGD mRNA:increased expression:lung (human) 1565734 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1606557 D RGD:155260359|PMID:35150321 20221005 RGD mRNA:increased expression:lung (human) 1565734 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:630 genetic disease ISO RGD:1606557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565734 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606557 D RGD:155598681|PMID:31289493 20221019 RGD mRNA, protein:increased expression:colorectum (human) 1565738 N4bp2 NEDD4 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565738 N4bp2 NEDD4 binding protein 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1603992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 1565739 Sgpp2 sphingosine-1-phosphate phosphatase 2 gene DOID:630 genetic disease ISO RGD:1346522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565739 Sgpp2 sphingosine-1-phosphate phosphatase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346522 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565744 Tsr3 TSR3 ribosome maturation factor gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1565744 Tsr3 TSR3 ribosome maturation factor gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352414 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1565744 Tsr3 TSR3 ribosome maturation factor gene DOID:1826 epilepsy ISO RGD:1352414 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1565744 Tsr3 TSR3 ribosome maturation factor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352414 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1565744 Tsr3 TSR3 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1352414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565746 Mageb1 MAGE family member B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346783 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565746 Mageb1 MAGE family member B1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1346783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 1565746 Mageb1 MAGE family member B1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1346783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 1565746 Mageb1 MAGE family member B1 gene DOID:12849 autistic disorder ISO RGD:1346783 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565746 Mageb1 MAGE family member B1 gene DOID:630 genetic disease ISO RGD:1346783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565746 Mageb1 MAGE family member B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346783 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:12236 primary biliary cholangitis ISO RGD:1604245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:13250 diarrhea ISO RGD:1604245 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:13580 cholestasis ISO RGD:1604245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:1561 cognitive disorder ISO RGD:1604245 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:2717 Bloom syndrome ISO RGD:1604245 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:630 genetic disease ISO RGD:1604245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:7240710 20210825 OMIM 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:9002661 Diabetes Complications ISO RGD:1604245 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 1565748 Slc51b solute carrier family 51 subunit beta gene DOID:9256 colorectal cancer ISO RGD:1604245 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1565750 Gimap7 GTPase, IMAP family member 7 gene DOID:0080600 COVID-19 ISO RGD:1343694 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 1565750 Gimap7 GTPase, IMAP family member 7 gene DOID:2843 long QT syndrome ISO RGD:1343694 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 1565750 Gimap7 GTPase, IMAP family member 7 gene DOID:630 genetic disease ISO RGD:1343694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565754 Fxn frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:7240710 20131030 OMIM 1565754 Fxn frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Friedreich ataxia 1 PMID:25741868|PMID:26467025|PMID:34906502 1565754 Fxn frataxin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604403 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15936968|PMID:25741868 1565754 Fxn frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:12923074|PMID:16120311|PMID:16239244|PMID:16911956|PMID:17101455|PMID:20098685|PMID:22016819|PMID:23418481|PMID:26954031|PMID:29272104|PMID:30451920 1565754 Fxn frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:1582636|PMID:8596916 20061115 RGD DNA:repeat:intron:GAA (human) 1565754 Fxn frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:1598961|PMID:10543403 20070108 RGD DNA:point mutation:exon:p.G130V 1565754 Fxn frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Friedreich ataxia PMID:10543403|PMID:10732799|PMID:11020385|PMID:11030757|PMID:11843702|PMID:12019217|PMID:17331979|PMID:17703324|PMID:18537827|PMID:19494730|PMID:19629184|PMID:19775837|PMID:20162437|PMID:21298097|PMID:25566998|PMID:25741868|PMID:26301374|PMID:26339677|PMID:26467025|PMID:26704351|PMID:28812047|PMID:31980526|PMID:34747814|PMID:8596916|PMID:9090376|PMID:9150176|PMID:9700204|PMID:9737785|PMID:9989622 1565754 Fxn frataxin gene DOID:630 genetic disease ISO RGD:1604403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15936968|PMID:19852779|PMID:25741868|PMID:26467025|PMID:28492532 1565754 Fxn frataxin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1604403 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 1565754 Fxn frataxin gene DOID:9007692 Insulin Resistance ISO RGD:1604403 D RGD:2307049|PMID:10969848 20090520 RGD DNA:repeats:intron:GAA (human) 1565754 Fxn frataxin gene DOID:9351 diabetes mellitus ISO RGD:1551716 D RGD:2307048|PMID:12925693 20090520 RGD DNA:deletion:exon (mouse) 1565754 Fxn frataxin gene DOID:9351 diabetes mellitus ISO RGD:1604403 D RGD:2307047|PMID:8815938 20090520 RGD associated with Friedrich Ataxia; DNA:repeats:intron:GAA (human) 1565754 Fxn frataxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604403 D RGD:2307050|PMID:9588463 20090520 RGD DNA:repeats:intron:GAA (human) 1565754 Fxn frataxin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1604403 D RGD:2307051|PMID:10102715 20090520 RGD DNA:repeats:intron:GAA (human) 1565754 Fxn frataxin gene DOID:9970 obesity ISO RGD:1551716 D RGD:2307045|PMID:17404227 20090520 RGD DNA:deletion:exon (mouse) 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:0060041 autism spectrum disorder ISO RGD:1354295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354295 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:7240710 20190315 OMIM 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome PMID:1746601|PMID:24647030|PMID:25644381|PMID:25741868|PMID:28492532 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:1059 intellectual disability ISO RGD:1354295 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1354295 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1354295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354295 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565755 Las1l LAS1-like, ribosome biogenesis factor gene DOID:9008086 Developmental Disabilities ISO RGD:1354295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25644381|PMID:28492532 1565757 Marchf6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:7240710 20191127 OMIM 1565757 Marchf6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 1565757 Marchf6 membrane associated ring-CH-type finger 6 gene DOID:630 genetic disease ISO RGD:1343716 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565759 Actr3b actin related protein 3B gene DOID:12849 autistic disorder ISO RGD:1603621 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565759 Actr3b actin related protein 3B gene DOID:630 genetic disease ISO RGD:1603621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565760 Fam163a family with sequence similarity 163, member A gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1565760 Fam163a family with sequence similarity 163, member A gene DOID:1540 parathyroid carcinoma ISO RGD:1605572 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565760 Fam163a family with sequence similarity 163, member A gene DOID:630 genetic disease ISO RGD:1605572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565760 Fam163a family with sequence similarity 163, member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605572 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1565760 Fam163a family with sequence similarity 163, member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605572 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565761 Aadacl4 arylacetamide deacetylase-like 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603850 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1565761 Aadacl4 arylacetamide deacetylase-like 4 gene DOID:630 genetic disease ISO RGD:1603850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565763 Ccdc113 coiled-coil domain containing 113 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565763 Ccdc113 coiled-coil domain containing 113 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565763 Ccdc113 coiled-coil domain containing 113 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1565763 Ccdc113 coiled-coil domain containing 113 gene DOID:630 genetic disease ISO RGD:1606018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565768 Ablim1 actin-binding LIM protein 1 gene DOID:303 substance-related disorder ISO RGD:1346152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1565768 Ablim1 actin-binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1346152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565772 Ssc5d scavenger receptor cysteine rich family member with 5 domains gene DOID:630 genetic disease ISO RGD:1604711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565773 Polr1e RNA polymerase I subunit E gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1565773 Polr1e RNA polymerase I subunit E gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1602318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1565773 Polr1e RNA polymerase I subunit E gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1565773 Polr1e RNA polymerase I subunit E gene DOID:630 genetic disease ISO RGD:1602318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565773 Polr1e RNA polymerase I subunit E gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1565773 Polr1e RNA polymerase I subunit E gene DOID:9870 galactosemia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0060586 Noonan syndrome 8 ISO RGD:1605086 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:1540 parathyroid carcinoma ISO RGD:1605086 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:5812 MHC class II deficiency ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1605086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565775 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605086 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565783 Nags N-acetylglutamate synthase gene DOID:0112258 N-acetylglutamate synthase deficiency ISO RGD:1349520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12594532|PMID:12754705 1565783 Nags N-acetylglutamate synthase gene DOID:0112258 N-acetylglutamate synthase deficiency ISO RGD:1349520 D RGD:7240710 20130221 OMIM 1565783 Nags N-acetylglutamate synthase gene DOID:10485 esophageal atresia ISO RGD:1349520 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1565783 Nags N-acetylglutamate synthase gene DOID:630 genetic disease ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12594532|PMID:15050968|PMID:15714518|PMID:16199547|PMID:17421020|PMID:25741868|PMID:27570737|PMID:28492532 1565783 Nags N-acetylglutamate synthase gene DOID:9008972 Hyperammonemia ISO RGD:1349520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12594532|PMID:12754705|PMID:17703373 1565783 Nags N-acetylglutamate synthase gene DOID:9008972 Hyperammonemia ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:12594532|PMID:12754705|PMID:15050968|PMID:15714518|PMID:15858972|PMID:15878741|PMID:16199547|PMID:17421020|PMID:23776373|PMID:23894642|PMID:24233332|PMID:25741868|PMID:27037498|PMID:27570737|PMID:28492532|PMID:32021803|PMID:9877039 1565783 Nags N-acetylglutamate synthase gene DOID:9252 amino acid metabolic disorder ISO RGD:1349520 D RGD:1600560|PMID:12594532 20070314 RGD N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X 1565784 Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1565784 Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1565784 Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:1826 epilepsy ISO RGD:1605551 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1565784 Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605551 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1565785 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347440 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565785 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 1565785 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 1565785 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:12849 autistic disorder ISO RGD:1347440 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565785 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347440 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565785 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347440 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1565787 Pinlyp phospholipase A2 inhibitor and Ly6/Plaur domain containing gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:6771275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1565787 Pinlyp phospholipase A2 inhibitor and Ly6/Plaur domain containing gene DOID:5419 schizophrenia ISO RGD:6771275 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565787 Pinlyp phospholipase A2 inhibitor and Ly6/Plaur domain containing gene DOID:630 genetic disease ISO RGD:6771275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565789 Slc25a32 solute carrier family 25 member 32 gene DOID:0111590 Cohen syndrome ISO RGD:1605933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 1565789 Slc25a32 solute carrier family 25 member 32 gene DOID:10283 prostate cancer ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 1565789 Slc25a32 solute carrier family 25 member 32 gene DOID:630 genetic disease ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565789 Slc25a32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:7240710 20190315 OMIM 1565789 Slc25a32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive PMID:25741868|PMID:26933868|PMID:28492532 1565792 Defb28 defensin beta 28 gene DOID:630 genetic disease ISO RGD:1351953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:7240710 20211006 OMIM 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant PMID:23842455|PMID:25741868|PMID:28424003|PMID:28492532|PMID:34653363 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080600 COVID-19 ISO RGD:1342989 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342989 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:10907 microcephaly ISO RGD:1342989 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:3652 Leigh disease ISO RGD:1342989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:5419 schizophrenia ISO RGD:1342989 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:630 genetic disease ISO RGD:1342989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342989 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1565793 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9007661 Dwarfism ISO RGD:1342989 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1565796 Msantd1 Myb/SANT DNA binding domain containing 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604952 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1565796 Msantd1 Myb/SANT DNA binding domain containing 1 gene DOID:1856 cherubism ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1565796 Msantd1 Myb/SANT DNA binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1604952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:0050633 ocular albinism ISS RGD:1558529 D RGD:13592920 20180518 MouseDO OMIM:300500 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:7240710 20130221 OMIM 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked PMID:15965158|PMID:17516023|PMID:18523664|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:12849 autistic disorder ISO RGD:1353035 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:630 genetic disease ISO RGD:1353035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11115845|PMID:11214907|PMID:16704458|PMID:21541274|PMID:21739261|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28559085|PMID:29345414|PMID:34251969|PMID:7647783 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:9001386 Albinism ISO RGD:1353035 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Albinism PMID:28041643|PMID:8634705 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353035 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:9005467 Ocular Albinism Type 1 ISO RGD:1353035 D RGD:7240710 20130221 OMIM 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:9005467 Ocular Albinism Type 1 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type I PMID:11214907|PMID:11520764|PMID:1427786|PMID:15965158|PMID:16199547|PMID:1652548|PMID:16646960|PMID:17576681|PMID:17960122|PMID:18978956|PMID:19390656|PMID:19610097|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532|PMID:5125647|PMID:7647783|PMID:8400292|PMID:8634705|PMID:9529334|PMID:9536098|PMID:9887374 1565799 Gpr143 G protein-coupled receptor 143 gene DOID:9650 pathologic nystagmus ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15965158|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 1565800 Vsig10 V-set and immunoglobulin domain containing 10 gene DOID:630 genetic disease ISO RGD:1607028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565804 Col6a5 collagen type VI alpha 5 chain gene DOID:0111947 immunodeficiency 21 ISO RGD:1601707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1565804 Col6a5 collagen type VI alpha 5 chain gene DOID:630 genetic disease ISO RGD:1601707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565804 Col6a5 collagen type VI alpha 5 chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 1565804 Col6a5 collagen type VI alpha 5 chain gene DOID:9270 alkaptonuria ISO RGD:1601707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1565810 Sec14l4 SEC14-like lipid binding 4 gene DOID:630 genetic disease ISO RGD:1343842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565811 Pcdh10 protocadherin 10 gene DOID:12849 autistic disorder ISO RGD:1348202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 1565811 Pcdh10 protocadherin 10 gene DOID:630 genetic disease ISO RGD:1348202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565817 Surf2 surfeit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1565817 Surf2 surfeit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1565817 Surf2 surfeit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345081 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1565817 Surf2 surfeit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1565817 Surf2 surfeit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1565817 Surf2 surfeit 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345081 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1565817 Surf2 surfeit 2 gene DOID:3652 Leigh disease ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1565817 Surf2 surfeit 2 gene DOID:630 genetic disease ISO RGD:1345081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565818 Slc8b1 solute carrier family 8 member B1 gene DOID:630 genetic disease ISO RGD:1349643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565818 Slc8b1 solute carrier family 8 member B1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:9685494|PMID:23564126 20150113 RGD 1565819 Zfp831 zinc finger protein 831 gene DOID:0080600 COVID-19 ISO RGD:1316121 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565819 Zfp831 zinc finger protein 831 gene DOID:1909 melanoma ISO RGD:1316121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1565819 Zfp831 zinc finger protein 831 gene DOID:630 genetic disease ISO RGD:1316121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565820 Slc9c2 solute carrier family 9, member C2 (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1354032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565820 Slc9c2 solute carrier family 9, member C2 (putative) gene DOID:3755 antithrombin III deficiency ISO RGD:1354032 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1565820 Slc9c2 solute carrier family 9, member C2 (putative) gene DOID:630 genetic disease ISO RGD:1354032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565820 Slc9c2 solute carrier family 9, member C2 (putative) gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 1565820 Slc9c2 solute carrier family 9, member C2 (putative) gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1565820 Slc9c2 solute carrier family 9, member C2 (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354032 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565821 Sptssa serine palmitoyltransferase, small subunit A gene DOID:630 genetic disease ISO RGD:1350858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565821 Sptssa serine palmitoyltransferase, small subunit A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1565825 Gstm4 glutathione S-transferase mu 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1565825 Gstm4 glutathione S-transferase mu 4 gene DOID:12849 autistic disorder ISO RGD:1606334 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565825 Gstm4 glutathione S-transferase mu 4 gene DOID:1289 neurodegenerative disease ISO RGD:1606334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 1565825 Gstm4 glutathione S-transferase mu 4 gene DOID:630 genetic disease ISO RGD:1606334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565825 Gstm4 glutathione S-transferase mu 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1565831 Klf8 KLF transcription factor 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348117 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565831 Klf8 KLF transcription factor 8 gene DOID:12849 autistic disorder ISO RGD:1348117 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565831 Klf8 KLF transcription factor 8 gene DOID:630 genetic disease ISO RGD:1348117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565834 Mbnl3 muscleblind-like splicing regulator 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603984 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565834 Mbnl3 muscleblind-like splicing regulator 3 gene DOID:12849 autistic disorder ISO RGD:1603984 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565834 Mbnl3 muscleblind-like splicing regulator 3 gene DOID:630 genetic disease ISO RGD:1603984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565835 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1565835 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342711 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1565835 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1342711 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1565835 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342711 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1565835 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1342711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565838 Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1565838 Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1602685 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565838 Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit gene DOID:3070 high grade glioma ISO RGD:1602685 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1565838 Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit gene DOID:630 genetic disease ISO RGD:1602685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565840 Eif3m eukaryotic translation initiation factor 3, subunit M gene DOID:1059 intellectual disability ISO RGD:1607072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565840 Eif3m eukaryotic translation initiation factor 3, subunit M gene DOID:630 genetic disease ISO RGD:1607072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565845 Tmem144 transmembrane protein 144 gene DOID:630 genetic disease ISO RGD:1605072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565847 Zfp26 zinc finger protein 26 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1565847 Zfp26 zinc finger protein 26 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1565847 Zfp26 zinc finger protein 26 gene DOID:14780 KBG syndrome ISO RGD:1604215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 1565847 Zfp26 zinc finger protein 26 gene DOID:630 genetic disease ISO RGD:1604215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565847 Zfp26 zinc finger protein 26 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604215 D RGD:8554872 20190101 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1565847 Zfp26 zinc finger protein 26 gene DOID:9970 obesity ISO RGD:1604215 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 1565856 Lrrc51 leucine rich repeat containing 51 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:41410865 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:24033266|PMID:25741868 1565856 Lrrc51 leucine rich repeat containing 51 gene DOID:9004538 Hearing Loss ISO RGD:41410865 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 1565856 Lrrc51 leucine rich repeat containing 51 gene DOID:9008681 Deafness ISO RGD:41410865 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:18953341 1565857 Pnma5 PNMA family member 5 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565857 Pnma5 PNMA family member 5 gene DOID:0050476 Barth syndrome ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565857 Pnma5 PNMA family member 5 gene DOID:0050800 creatine transporter deficiency ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565857 Pnma5 PNMA family member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1565857 Pnma5 PNMA family member 5 gene DOID:10588 adrenoleukodystrophy ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565857 Pnma5 PNMA family member 5 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565857 Pnma5 PNMA family member 5 gene DOID:12849 autistic disorder ISO RGD:1347764 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565857 Pnma5 PNMA family member 5 gene DOID:13628 favism ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1565857 Pnma5 PNMA family member 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1347764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1565857 Pnma5 PNMA family member 5 gene DOID:607 paraplegia ISO RGD:1347764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1565857 Pnma5 PNMA family member 5 gene DOID:630 genetic disease ISO RGD:1347764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565858 Myh15 myosin, heavy chain 15 gene DOID:630 genetic disease ISO RGD:1348086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565858 Myh15 myosin, heavy chain 15 gene DOID:9000528 Coronary Disease ISO RGD:1348086 D RGD:2317145|PMID:18073581 20100316 RGD DNA:snp:exon:EX28T>C rs3900940 (human) 1565858 Myh15 myosin, heavy chain 15 gene DOID:9007096 Stroke ISO RGD:1348086 D RGD:2317144|PMID:19752551 20100316 RGD DNA:snp:exon:EX28T>C rs3900940 (human) 1565868 Atxn2l ataxin 2-like gene DOID:0050692 Brody myopathy ISO RGD:1604832 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 1565868 Atxn2l ataxin 2-like gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1604832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1565868 Atxn2l ataxin 2-like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604832 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1565868 Atxn2l ataxin 2-like gene DOID:5419 schizophrenia ISO RGD:1604832 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1565868 Atxn2l ataxin 2-like gene DOID:630 genetic disease ISO RGD:1604832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565868 Atxn2l ataxin 2-like gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 1565868 Atxn2l ataxin 2-like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604832 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604651 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604651 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604651 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:11168 anogenital venereal wart ISO RGD:1604651 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis ISO RGD:1604651 D RGD:38549361|PMID:20945034 20200831 RGD mRNA:decreased expression: T cell 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1604651 D RGD:38456004|PMID:28101786 20200810 RGD 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:630 genetic disease ISO RGD:1604651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604651 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604651 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1565872 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9065 leishmaniasis ISO RGD:1604651 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20139272 1565877 Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:10348 blepharophimosis ISO RGD:1352800 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 1565877 Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:630 genetic disease ISO RGD:1352800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:7240710 20210414 OMIM 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 19 PMID:25741868|PMID:32845237 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:12849 autistic disorder ISO RGD:1349418 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:630 genetic disease ISO RGD:1349418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349418 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:9263 homocystinuria ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1565879 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1565881 Zfp3 zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1346211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565882 Setmar SET domain and mariner transposase fusion gene gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:1348585 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:17932120|PMID:20669319|PMID:21681106 1565882 Setmar SET domain and mariner transposase fusion gene gene DOID:630 genetic disease ISO RGD:1348585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565882 Setmar SET domain and mariner transposase fusion gene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348585 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565883 Fam222a family with sequence similarity 222, member A gene DOID:630 genetic disease ISO RGD:1605921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565884 Peli2 pellino E3 ubiquitin protein ligase family member 2 gene DOID:630 genetic disease ISO RGD:1353013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070340 classic citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I PMID:10369257|PMID:14680984|PMID:16199547|PMID:23022256|PMID:23053473|PMID:23067347|PMID:24069319|PMID:24586645|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:36599957 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20130221 OMIM 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19470249|PMID:20301360|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24327139|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31845334|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16449956 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:1599241|PMID:10369257 20080519 RGD DNA:mutations: :multiple 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20130221 OMIM 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Late-onset citrullinemia PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12409267|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16311094|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18392553|PMID:18487280|PMID:19036621|PMID:19185551|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:21914561|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25365849|PMID:25381944|PMID:25640679|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27779681|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30703226|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31607264|PMID:31845334|PMID:31980526|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia susceptibility ISO RGD:1323000 D RGD:1599242|PMID:11153906 20080519 RGD DNA,protein:mutations,decreased expression:exons,liver:multiple 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1323000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM PMID:21507300|PMID:23053473|PMID:24069319|PMID:25741868|PMID:28492532 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:11372 megacolon ISO RGD:1323000 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323000 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:630 genetic disease ISO RGD:1323000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367750|PMID:18392553|PMID:25741868|PMID:28492532|PMID:36599957 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:9002589 Bone Fractures ISO RGD:1323000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19470249|PMID:20301360|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25216257|PMID:25365849|PMID:25741868|PMID:26852511|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:28492532|PMID:29659898|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:33763395|PMID:34006251|PMID:34704407|PMID:34800434|PMID:36599957|PMID:9536098 1565889 Slc25a13 solute carrier family 25 member 13 gene DOID:9273 citrullinemia ISO RGD:1323000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria PMID:10369257|PMID:11153906|PMID:11343052|PMID:11793471|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16199547|PMID:16449956|PMID:17576681|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19185551|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21424115|PMID:23053473|PMID:23701493|PMID:24069319|PMID:25110155|PMID:25741868|PMID:26858187|PMID:27405544|PMID:28492532|PMID:29659898|PMID:31845334|PMID:34006251|PMID:36599957|PMID:9536098 1565895 Klhl35 kelch-like family member 35 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603871 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1565895 Klhl35 kelch-like family member 35 gene DOID:1059 intellectual disability ISO RGD:1603871 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565895 Klhl35 kelch-like family member 35 gene DOID:630 genetic disease ISO RGD:1603871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565899 Spib Spi-B transcription factor gene DOID:12236 primary biliary cholangitis ISO RGD:1347644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 1565899 Spib Spi-B transcription factor gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347644 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1565899 Spib Spi-B transcription factor gene DOID:630 genetic disease ISO RGD:1347644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565905 C1h11orf16 similar to human chromosome 11 open reading frame 16 gene DOID:630 genetic disease ISO RGD:1347638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565906 Lclat1 lysocardiolipin acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565913 Cd207 CD207 molecule gene DOID:543 dystonia ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1565913 Cd207 CD207 molecule gene DOID:630 genetic disease ISO RGD:1347897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565913 Cd207 CD207 molecule gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1565925 Ccdc42 coiled-coil domain containing 42 gene DOID:630 genetic disease ISO RGD:1601721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565927 Filip1l filamin A interacting protein 1-like gene DOID:630 genetic disease ISO RGD:1604834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565932 Satl1 spermidine/spermine N1-acetyl transferase-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343887 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565932 Satl1 spermidine/spermine N1-acetyl transferase-like 1 gene DOID:12849 autistic disorder ISO RGD:1343887 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565932 Satl1 spermidine/spermine N1-acetyl transferase-like 1 gene DOID:630 genetic disease ISO RGD:1343887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565934 Nol7 nucleolar protein 7 gene DOID:630 genetic disease ISO RGD:1343047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0050713 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0060041 autism spectrum disorder ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601870 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1601870 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 PMID:23643385|PMID:25741868|PMID:28492532 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1601870 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601870 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19879173|PMID:20159436|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30593977|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601870 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1601870 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:1059 intellectual disability ISO RGD:1601870 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:11832 visual epilepsy ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:15210538|PMID:16326995|PMID:16765077|PMID:23643385|PMID:23719228|PMID:25741868|PMID:28492532 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:1826 epilepsy ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:630 genetic disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1601870 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:9004853 Myopia 6 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 1565937 Ncaph2 non-SMC condensin II complex, subunit H2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1601870 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:23643385|PMID:25741868|PMID:28492532 1565940 Arl8a ADP-ribosylation factor like GTPase 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1565940 Arl8a ADP-ribosylation factor like GTPase 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1348114 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1565940 Arl8a ADP-ribosylation factor like GTPase 8A gene DOID:630 genetic disease ISO RGD:1348114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565940 Arl8a ADP-ribosylation factor like GTPase 8A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1565940 Arl8a ADP-ribosylation factor like GTPase 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1565940 Arl8a ADP-ribosylation factor like GTPase 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348114 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:10763 hypertension ISO RGD:1343957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:12849 autistic disorder ISO RGD:1343957 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1343957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17909013 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:9002554 Tachycardia ISO RGD:1343957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 1565941 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:9006680 Hyperventilation ISO RGD:1343957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 1565942 Dynlt4 dynein light chain Tctex-type 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1565942 Dynlt4 dynein light chain Tctex-type 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606104 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1565942 Dynlt4 dynein light chain Tctex-type 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1565942 Dynlt4 dynein light chain Tctex-type 4 gene DOID:630 genetic disease ISO RGD:1606104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565942 Dynlt4 dynein light chain Tctex-type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606104 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 1565947 Ntn4 netrin 4 gene DOID:10283 prostate cancer ISO RGD:1348678 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1565947 Ntn4 netrin 4 gene DOID:630 genetic disease ISO RGD:1348678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565948 Siglec15 sialic acid binding Ig-like lectin 15 gene DOID:0060356 Vici syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1565948 Siglec15 sialic acid binding Ig-like lectin 15 gene DOID:1059 intellectual disability ISO RGD:1604713 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565948 Siglec15 sialic acid binding Ig-like lectin 15 gene DOID:630 genetic disease ISO RGD:1604713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565948 Siglec15 sialic acid binding Ig-like lectin 15 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1604713 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1321433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:0080600 COVID-19 ISO RGD:1321433 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:1598738|PMID:15373769 20141205 RGD DNA:deletions: : 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:7240710 20130221 OMIM 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:10417273|PMID:15373769|PMID:15389701|PMID:16199547|PMID:1642226|PMID:16770806|PMID:17090394|PMID:17576681|PMID:18973246|PMID:21567906|PMID:22863189|PMID:23495203|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25640679|PMID:25741868|PMID:26765342|PMID:28128410|PMID:28346524|PMID:28492532|PMID:29843651|PMID:33389145|PMID:7735500|PMID:8215497|PMID:8986271|PMID:9536098 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1321433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1321433 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22863189|PMID:25741868|PMID:28346524|PMID:28492532|PMID:29843651 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD PMID:10417273|REF_RGD_ID:1598739 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:1790 malignant mesothelioma ISO RGD:1321433 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26139392 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:630 genetic disease ISO RGD:1321433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1565950 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1321433 D RGD:9681739|PMID:22990015 20141205 RGD DNA:SNP::rs469568(human) 1565951 Supt20hl2 SUPT20H like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347213 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565951 Supt20hl2 SUPT20H like 2 gene DOID:12849 autistic disorder ISO RGD:1347213 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565951 Supt20hl2 SUPT20H like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347213 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565955 Nkap NFKB activating protein gene DOID:0050437 Danon disease ISO RGD:1606506 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1565955 Nkap NFKB activating protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606506 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565955 Nkap NFKB activating protein gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1565955 Nkap NFKB activating protein gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1565955 Nkap NFKB activating protein gene DOID:12849 autistic disorder ISO RGD:1606506 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565955 Nkap NFKB activating protein gene DOID:630 genetic disease ISO RGD:1606506 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31587868 1565955 Nkap NFKB activating protein gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1606506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868 1565955 Nkap NFKB activating protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606506 D RGD:155641252|PMID:31587868 20221107 RGD DNA:missense mutations:exon 8-9:multiple (human) 1565955 Nkap NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:7240710 20200722 OMIM 1565955 Nkap NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type PMID:25741868|PMID:26358559|PMID:31587868 1565955 Nkap NFKB activating protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606506 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1565957 Rnf208 ring finger protein 208 gene DOID:0050777 Joubert syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1565957 Rnf208 ring finger protein 208 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1565957 Rnf208 ring finger protein 208 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603720 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1565957 Rnf208 ring finger protein 208 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1565957 Rnf208 ring finger protein 208 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1565957 Rnf208 ring finger protein 208 gene DOID:0081097 Rafiq syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1565957 Rnf208 ring finger protein 208 gene DOID:1826 epilepsy ISO RGD:1603720 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1565957 Rnf208 ring finger protein 208 gene DOID:630 genetic disease ISO RGD:1603720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565957 Rnf208 ring finger protein 208 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1565959 RGD1565959 RGD1565959 gene DOID:9005369 Hepatomegaly EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 1565962 Ly75 lymphocyte antigen 75 gene DOID:12849 autistic disorder ISO RGD:1343680 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 1565962 Ly75 lymphocyte antigen 75 gene DOID:630 genetic disease ISO RGD:1343680 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565966 Far2 fatty acyl CoA reductase 2 gene DOID:10140 dry eye syndrome ISS RGD:1556953 D RGD:13592920 20221103 MouseDO 1565966 Far2 fatty acyl CoA reductase 2 gene DOID:630 genetic disease ISO RGD:1344680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565966 Far2 fatty acyl CoA reductase 2 gene DOID:987 alopecia ISS RGD:1556953 D RGD:13592920 20190103 MouseDO OMIM:300042 1565967 Arhgap36 Rho GTPase activating protein 36 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603262 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565967 Arhgap36 Rho GTPase activating protein 36 gene DOID:12849 autistic disorder ISO RGD:1603262 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565967 Arhgap36 Rho GTPase activating protein 36 gene DOID:630 genetic disease ISO RGD:1603262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565968 C1ql4 complement C1q like 4 gene DOID:630 genetic disease ISO RGD:1604955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565969 Ccny cyclin Y gene DOID:630 genetic disease ISO RGD:1347341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565969 Ccny cyclin Y gene DOID:8577 ulcerative colitis ISO RGD:1347341 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 1565969 Ccny cyclin Y gene DOID:8778 Crohn's disease ISO RGD:1347341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 1565972 Spata31d1 SPATA31 subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1601912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565973 Asb5 ankyrin repeat and SOCS box-containing 5 gene DOID:630 genetic disease ISO RGD:1352084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565973 Asb5 ankyrin repeat and SOCS box-containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352084 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565983 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1350631 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 1565983 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350631 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1565983 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1350631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1565983 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1350631 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1565983 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:630 genetic disease ISO RGD:1350631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565984 Usp35 ubiquitin specific peptidase 35 gene DOID:1059 intellectual disability ISO RGD:1353275 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1565984 Usp35 ubiquitin specific peptidase 35 gene DOID:630 genetic disease ISO RGD:1353275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565985 Ttc9 tetratricopeptide repeat domain 9 gene DOID:2559 opiate dependence ISO RGD:1318967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1565985 Ttc9 tetratricopeptide repeat domain 9 gene DOID:630 genetic disease ISO RGD:1318967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565986 Zfp365 zinc finger protein 365 gene DOID:0080600 COVID-19 ISO RGD:1605085 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1565991 Nat14 N-acetyltransferase 14 gene DOID:630 genetic disease ISO RGD:1601749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565995 Shfl shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1605065 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:28492532 1565995 Shfl shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:630 genetic disease ISO RGD:1605065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1565997 Fancd2os FANCD2 opposite strand gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1603367 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 1565997 Fancd2os FANCD2 opposite strand gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 1565997 Fancd2os FANCD2 opposite strand gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:31586946|PMID:32546565|PMID:32581362 1565997 Fancd2os FANCD2 opposite strand gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:25927356|PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:13636 Fanconi anemia ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:9536098 1565997 Fancd2os FANCD2 opposite strand gene DOID:2394 ovarian cancer ISO RGD:1603367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:630 genetic disease ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:687 hepatoblastoma ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603367 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1565997 Fancd2os FANCD2 opposite strand gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:9008086 Developmental Disabilities ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 1565997 Fancd2os FANCD2 opposite strand gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603367 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 1565999 Sdr16c5 short chain dehydrogenase/reductase family 16C, member 5 gene DOID:630 genetic disease ISO RGD:1604728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566000 Plpp6 phospholipid phosphatase 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1566000 Plpp6 phospholipid phosphatase 6 gene DOID:630 genetic disease ISO RGD:1606068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566001 Lurap1 leucine rich adaptor protein 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1605156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O PMID:19299310|PMID:20816175|PMID:21447391|PMID:26908613|PMID:27391550|PMID:28492532 1566001 Lurap1 leucine rich adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1605156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:7240710 20140911 OMIM 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:13938 amenorrhea ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:1923 disorder of sexual development ISO RGD:1350548 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1350548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:9002189 High Myopia ISO RGD:1350548 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1566005 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0070271 Lynch syndrome 1 ISO RGD:1347724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISS RGD:1557108 D RGD:13592920 20180518 MouseDO OMIM:227850 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:7240710 20140911 OMIM 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group P PMID:17576681|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:9536098 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:21240277|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532|PMID:28678401|PMID:30613976|PMID:32546565|PMID:33606809 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:10907 microcephaly ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21240275|PMID:21240276|PMID:21240277 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29607586|PMID:29868112|PMID:29915322|PMID:30306255|PMID:30613976|PMID:31300551|PMID:32368696|PMID:33270637|PMID:9536098 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33606809|PMID:9536098 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26689913|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1612 breast cancer ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1826 epilepsy ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:3068 glioblastoma ISO RGD:1347724 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme PMID:25741868 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:687 hepatoblastoma ISO RGD:1347724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1347724 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1566009 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347724 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0080205 CAKUT ISO RGD:1347992 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:24700879|PMID:25741868|PMID:28492532|PMID:30143558 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0090001 Fraser syndrome ISO RGD:1347992 D RGD:11554173 20181120 CTD CTD Direct Evidence: marker/mechanism PMID:17163535 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0090001 Fraser syndrome ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:17576681|PMID:25741868|PMID:26275891|PMID:28492532|PMID:9536098 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 IAGP D RGD:13464328|PMID:21756877 20180103 RGD 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:7240710 20190315 OMIM 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:15838507|PMID:18203166|PMID:18671281|PMID:24115501|PMID:24700879|PMID:25741868|PMID:26275891|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30773290|PMID:30802441|PMID:30838450 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111716 cryptophthalmia ISO RGD:1347992 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Cryptophthalmia PMID:25741868 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:7240710 20200325 OMIM 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:17576681|PMID:24115501|PMID:25741868|PMID:26275891|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30802441|PMID:30838450|PMID:9536098 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:10283 prostate cancer ISO RGD:1347992 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:10907 microcephaly ISO RGD:1347992 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:1923 disorder of sexual development ISO RGD:1347992 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:25741868 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:30143558 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:5419 schizophrenia ISO RGD:1347992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:630 genetic disease ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1347992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 1566012 Frem2 FRAS1 related extracellular matrix 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1347992 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:0050476 Barth syndrome ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342562 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:12134 factor VIII deficiency ISO RGD:1342562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:12849 autistic disorder ISO RGD:1342562 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:13628 favism ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1342562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:607 paraplegia ISO RGD:1342562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:630 genetic disease ISO RGD:1342562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566014 F8a1 coagulation factor VIII-associated 1 gene DOID:9002720 Splenomegaly ISO RGD:1342562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603684 D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1603684 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:12849 autistic disorder ISO RGD:1603684 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603684 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603684 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1566016 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603684 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566017 Sash1 SAM and SH3 domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1350407 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25315659 1566017 Sash1 SAM and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350407 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566017 Sash1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:7240710 20190403 OMIM 1566017 Sash1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 PMID:12190883|PMID:15150790|PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:28492532|PMID:29956681|PMID:32981204 1566017 Sash1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:7240710 20190424 OMIM 1566017 Sash1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA PMID:25315659|PMID:25741868 1566019 C4h2orf81 similar to human chromosome 2 open reading frame 81 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2298834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1566019 C4h2orf81 similar to human chromosome 2 open reading frame 81 gene DOID:543 dystonia ISO RGD:2298834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1566019 C4h2orf81 similar to human chromosome 2 open reading frame 81 gene DOID:630 genetic disease ISO RGD:2298834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566019 C4h2orf81 similar to human chromosome 2 open reading frame 81 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2298834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1566020 Stap2 signal transducing adaptor family member 2 gene DOID:13938 amenorrhea ISO RGD:1601996 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1566020 Stap2 signal transducing adaptor family member 2 gene DOID:630 genetic disease ISO RGD:1601996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566025 Pinx1 PIN2/TERF1 interacting, telomerase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566025 Pinx1 PIN2/TERF1 interacting, telomerase inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606271 D RGD:152977752|PMID:27221889 20220602 RGD associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human) 1566025 Pinx1 PIN2/TERF1 interacting, telomerase inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606271 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566028 Dnaaf5 dynein, axonemal, assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:7240710 20190315 OMIM 1566028 Dnaaf5 dynein, axonemal, assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216 1566028 Dnaaf5 dynein, axonemal, assembly factor 5 gene DOID:5419 schizophrenia ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1566028 Dnaaf5 dynein, axonemal, assembly factor 5 gene DOID:630 genetic disease ISO RGD:1606283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1566028 Dnaaf5 dynein, axonemal, assembly factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:9536098 1566029 Shisal1 shisa like 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303456 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1566029 Shisal1 shisa like 1 gene DOID:1059 intellectual disability ISO RGD:2303456 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:1353602 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES PMID:25741868 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1353602 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:7240710 20190315 OMIM 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25644381|PMID:25741868|PMID:26394714|PMID:28492532|PMID:29267967 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1353602 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1353602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19118189|PMID:25741868|PMID:28492532 1566031 Frmpd4 FERM and PDZ domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353602 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566036 Spidr scaffold protein involved in DNA repair gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1603315 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1566036 Spidr scaffold protein involved in DNA repair gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603315 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1566036 Spidr scaffold protein involved in DNA repair gene DOID:630 genetic disease ISO RGD:1603315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566036 Spidr scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:7240710 20211222 OMIM 1566036 Spidr scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 9 PMID:27967308|PMID:34697795 1566039 Umodl1 uromodulin-like 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1566039 Umodl1 uromodulin-like 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1566039 Umodl1 uromodulin-like 1 gene DOID:10283 prostate cancer ISO RGD:1351162 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1566039 Umodl1 uromodulin-like 1 gene DOID:630 genetic disease ISO RGD:1351162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566039 Umodl1 uromodulin-like 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1566039 Umodl1 uromodulin-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351162 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566039 Umodl1 uromodulin-like 1 gene DOID:9263 homocystinuria ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1566039 Umodl1 uromodulin-like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1566041 Tuba8 tubulin, alpha 8 gene DOID:0060224 atrial fibrillation ISO RGD:1352677 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1566041 Tuba8 tubulin, alpha 8 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12851857|PMID:21031596|PMID:28492532 1566041 Tuba8 tubulin, alpha 8 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1566041 Tuba8 tubulin, alpha 8 gene DOID:10907 microcephaly ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:31481326 1566041 Tuba8 tubulin, alpha 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1352677 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1566041 Tuba8 tubulin, alpha 8 gene DOID:630 genetic disease ISO RGD:1352677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1566041 Tuba8 tubulin, alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:7240710 20220504 OMIM 1566041 Tuba8 tubulin, alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:34704371 1566041 Tuba8 tubulin, alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352677 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566041 Tuba8 tubulin, alpha 8 gene DOID:9006775 Polymicrogyria with Optic Nerve Hypoplasia ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia PMID:18414213|PMID:19896110|PMID:20466094|PMID:25741868|PMID:26467025|PMID:28388629|PMID:28492532|PMID:34704371 1566041 Tuba8 tubulin, alpha 8 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1566042 Tmem255b transmembrane protein 255B gene DOID:2222 factor X deficiency ISO RGD:1602045 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1566042 Tmem255b transmembrane protein 255B gene DOID:630 genetic disease ISO RGD:1602045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566043 Nutm2f NUT family member 2F gene DOID:9001440 Oculopharyngeal Myopathy with Leukoencephalopathy 1 ISO RGD:1346368 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Oculopharyngeal myopathy with leukoencephalopathy 1 PMID:25741868 1566044 Fpr3 formyl peptide receptor 3 gene DOID:630 genetic disease ISO RGD:1350649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566050 Ccdc138 coiled-coil domain containing 138 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1603550 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 1566050 Ccdc138 coiled-coil domain containing 138 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1603550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 1566050 Ccdc138 coiled-coil domain containing 138 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1603550 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:28492532 1566050 Ccdc138 coiled-coil domain containing 138 gene DOID:630 genetic disease ISO RGD:1603550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566050 Ccdc138 coiled-coil domain containing 138 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1603550 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1352223 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0060673 Peters anomaly ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0111383 autosomal dominant keratitis ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1352223 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:10629 microphthalmia ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:11975 coloboma of optic nerve ISO RGD:1352223 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:25741868 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1352223 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:14515 WAGR syndrome ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:3764 Denys-Drash syndrome ISO RGD:1352223 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1352223 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:630 genetic disease ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9002049 Anophthalmia ISO RGD:1352223 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Anophthalmia 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9002455 Aniridia 1 ISO RGD:1352223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10234503|PMID:10737978|PMID:11284764|PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:15150775|PMID:16098226|PMID:17630404|PMID:18483559|PMID:22361317|PMID:24138039|PMID:24290376|PMID:25741868|PMID:26661695|PMID:27124303|PMID:27431685|PMID:28231309|PMID:28321846|PMID:28492532|PMID:29618921|PMID:30291432|PMID:8364574 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003133 Hypertelorism ISO RGD:1352223 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:1352223 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:7240710 20190327 OMIM 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aniridia 2 PMID:25741868|PMID:26010655|PMID:28492532 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1352223 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Global developmental delay 1566052 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352223 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1566053 Svopl SVOP like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603906 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566053 Svopl SVOP like gene DOID:630 genetic disease ISO RGD:1603906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566053 Svopl SVOP like gene DOID:9008386 Hydrops Fetalis ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 1566054 Trappc12 trafficking protein particle complex subunit 12 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1343529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 1566054 Trappc12 trafficking protein particle complex subunit 12 gene DOID:10908 hydrocephalus ISO RGD:1343529 D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus 1566054 Trappc12 trafficking protein particle complex subunit 12 gene DOID:630 genetic disease ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28777934|PMID:32369837 1566054 Trappc12 trafficking protein particle complex subunit 12 gene DOID:9002202 Opsismodysplasia ISO RGD:1343529 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:28777934 1566054 Trappc12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:7240710 20190315 OMIM 1566054 Trappc12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | ClinVar Annotator: match by term: Progressive childhood encephalopathy PMID:17576681|PMID:25614871|PMID:25741868|PMID:28492532|PMID:28777934|PMID:32347653|PMID:32369837|PMID:9536098 1566056 Zfp777 zinc finger protein 777 gene DOID:630 genetic disease ISO RGD:1604021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566058 Cog7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:7240710 20130221 OMIM 1566058 Cog7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:15107842|PMID:16199547|PMID:17356545|PMID:17395513|PMID:17576681|PMID:19577670|PMID:21811164|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098 1566058 Cog7 component of oligomeric golgi complex 7 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349178 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 1566058 Cog7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30653653|PMID:9536098 1566058 Cog7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease susceptibility ISO RGD:1349178 D RGD:1600879|PMID:15107842 20070329 RGD congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C 1566059 Or4f5 olfactory receptor family 4 subfamily F member 5 gene DOID:630 genetic disease ISO RGD:1346395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566062 Mettl5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:7240710 20191211 OMIM 1566062 Mettl5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 72 PMID:25741868|PMID:28492532|PMID:31130284|PMID:31564433 1566062 Mettl5 methyltransferase 5, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1606016 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:31564433 1566062 Mettl5 methyltransferase 5, N6-adenosine gene DOID:630 genetic disease ISO RGD:1606016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566063 Kctd2 potassium channel tetramerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1348745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566064 Prrc2c proline-rich coiled-coil 2C gene DOID:1540 parathyroid carcinoma ISO RGD:1351775 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566064 Prrc2c proline-rich coiled-coil 2C gene DOID:630 genetic disease ISO RGD:1351775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566064 Prrc2c proline-rich coiled-coil 2C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1351775 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1566064 Prrc2c proline-rich coiled-coil 2C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351775 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566072 Dock1 dedicator of cyto-kinesis 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1315227 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1566072 Dock1 dedicator of cyto-kinesis 1 gene DOID:0080600 COVID-19 ISO RGD:1315227 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566072 Dock1 dedicator of cyto-kinesis 1 gene DOID:11198 DiGeorge syndrome ISS RGD:1315228 D RGD:13592920 20180518 MouseDO OMIM:188400 1566072 Dock1 dedicator of cyto-kinesis 1 gene DOID:303 substance-related disorder ISO RGD:1315227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1566072 Dock1 dedicator of cyto-kinesis 1 gene DOID:630 genetic disease ISO RGD:1315227 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:26527617|PMID:27662902|PMID:3372592 1566072 Dock1 dedicator of cyto-kinesis 1 gene DOID:6419 tetralogy of Fallot ISS RGD:1315228 D RGD:13592920 20180518 MouseDO OMIM:187500 1566074 Rbm44 RNA binding motif protein 44 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1566074 Rbm44 RNA binding motif protein 44 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1566074 Rbm44 RNA binding motif protein 44 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1625816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1566074 Rbm44 RNA binding motif protein 44 gene DOID:1059 intellectual disability ISO RGD:1625816 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566074 Rbm44 RNA binding motif protein 44 gene DOID:630 genetic disease ISO RGD:1625816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566074 Rbm44 RNA binding motif protein 44 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1566076 Serp2 stress-associated endoplasmic reticulum protein family member 2 gene DOID:630 genetic disease ISO RGD:1346471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566077 Serinc4 serine incorporator 4 gene DOID:2717 Bloom syndrome ISO RGD:1606056 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1566077 Serinc4 serine incorporator 4 gene DOID:9256 colorectal cancer ISO RGD:1606056 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1566079 Sned1 sushi, nidogen and EGF-like domains 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1566079 Sned1 sushi, nidogen and EGF-like domains 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1566079 Sned1 sushi, nidogen and EGF-like domains 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349916 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1566079 Sned1 sushi, nidogen and EGF-like domains 1 gene DOID:1059 intellectual disability ISO RGD:1349916 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566079 Sned1 sushi, nidogen and EGF-like domains 1 gene DOID:630 genetic disease ISO RGD:1349916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566079 Sned1 sushi, nidogen and EGF-like domains 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1566082 Rassf6 Ras association domain family member 6 gene DOID:630 genetic disease ISO RGD:1605848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566082 Rassf6 Ras association domain family member 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1566083 Srarp steroid receptor associated and regulated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1566084 Prr36 proline rich 36 gene DOID:630 genetic disease ISO RGD:9588105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:12849 autistic disorder ISO RGD:1605282 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1605282 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1605282 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:630 genetic disease ISO RGD:1605282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605282 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1566090 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605282 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566094 Btbd2 BTB domain containing 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1566094 Btbd2 BTB domain containing 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1566094 Btbd2 BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1344972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566094 Btbd2 BTB domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344972 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566098 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345996 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566098 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:12259 hemophilia B ISO RGD:1345996 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 1566098 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:12849 autistic disorder ISO RGD:1345996 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566098 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:630 genetic disease ISO RGD:1345996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566099 RGD1566099 similar to novel protein gene DOID:1540 parathyroid carcinoma ISO RGD:1606868 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566099 RGD1566099 similar to novel protein gene DOID:630 genetic disease ISO RGD:1606868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566099 RGD1566099 similar to novel protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606868 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566103 Niban3 niban apoptosis regulator 3 gene DOID:630 genetic disease ISO RGD:1604724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566107 Creb5 cAMP responsive element binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606026 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1566107 Creb5 cAMP responsive element binding protein 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606026 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566107 Creb5 cAMP responsive element binding protein 5 gene DOID:630 genetic disease ISO RGD:1606026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566107 Creb5 cAMP responsive element binding protein 5 gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1606026 D RGD:151660336|PMID:25105010 20220303 RGD mRNA:decreased expression:lung (human) 1566107 Creb5 cAMP responsive element binding protein 5 gene DOID:9007479 Habitual Abortions ISO RGD:1606026 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30100398 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346589 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1346589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:7240710 20190821 OMIM 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shukla-Vernon syndrome PMID:24047651|PMID:24896186|PMID:25741868|PMID:27470916|PMID:28492532|PMID:30941876|PMID:33810051|PMID:35178361 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:1059 intellectual disability ISO RGD:1346589 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:12849 autistic disorder ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:1826 epilepsy ISO RGD:1346589 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:2154 nephroblastoma ISO RGD:1346589 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1346589 D RGD:11342082|PMID:26648304 20210830 RGD 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:630 genetic disease ISO RGD:1346589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346589 D RGD:11556159|PMID:26879601 20210830 RGD 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346589 D RGD:150340705|PMID:29679906 20210830 RGD 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346589 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346589 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 1566108 Bcorl1 BCL6 co-repressor-like 1 gene DOID:9538 multiple myeloma ISO RGD:1346589 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1566110 Clec1a C-type lectin domain family 1, member A gene DOID:13564 aspergillosis ISO RGD:1343742 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1566110 Clec1a C-type lectin domain family 1, member A gene DOID:13564 aspergillosis ISO RGD:1343742 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:29489751 1566110 Clec1a C-type lectin domain family 1, member A gene DOID:13564 aspergillosis susceptibility ISO RGD:1343742 D RGD:7240710 20190502 OMIM 1566110 Clec1a C-type lectin domain family 1, member A gene DOID:630 genetic disease ISO RGD:1343742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566112 Plekhd1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:630 genetic disease ISO RGD:1347482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566112 Plekhd1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347482 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1566117 Ttll7 tubulin tyrosine ligase like 7 gene DOID:630 genetic disease ISO RGD:1605943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566119 H2ax H2A.X variant histone gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346464 D RGD:150340604|PMID:29928356 20210818 RGD protein:increased expression:mucosa of oral region (human) 1566119 H2ax H2A.X variant histone gene DOID:0060017 CD3epsilon deficiency ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1566119 H2ax H2A.X variant histone gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1566119 H2ax H2A.X variant histone gene DOID:0080690 RASopathy ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1566119 H2ax H2A.X variant histone gene DOID:0081330 glycogen storage disease Ib ISO RGD:1346464 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1566119 H2ax H2A.X variant histone gene DOID:0110651 long QT syndrome 10 ISO RGD:1346464 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1566119 H2ax H2A.X variant histone gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1566119 H2ax H2A.X variant histone gene DOID:0111971 immunodeficiency 18 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1566119 H2ax H2A.X variant histone gene DOID:0111972 immunodeficiency 19 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1566119 H2ax H2A.X variant histone gene DOID:0111973 immunodeficiency 17 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1566119 H2ax H2A.X variant histone gene DOID:10763 hypertension treatment IDA D RGD:8693672|PMID:24239235 20140722 RGD 1566119 H2ax H2A.X variant histone gene DOID:1824 status epilepticus IDA D RGD:8693708|PMID:21613478 20140718 RGD protein:increased phosphorylation:brain 1566119 H2ax H2A.X variant histone gene DOID:224 transient cerebral ischemia treatment IDA D RGD:8693742|PMID:20830300 20140722 RGD 1566119 H2ax H2A.X variant histone gene DOID:3068 glioblastoma ISO RGD:1346464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 1566119 H2ax H2A.X variant histone gene DOID:5419 schizophrenia ISO RGD:1346464 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1566119 H2ax H2A.X variant histone gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:8693718|PMID:23792534 20140721 RGD 1566119 H2ax H2A.X variant histone gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346464 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1566119 H2ax H2A.X variant histone gene DOID:9004203 Chromosome Breakage ISO RGD:1346464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26231820 1566119 H2ax H2A.X variant histone gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 1566119 H2ax H2A.X variant histone gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1558155 D RGD:7240549|PMID:22384017 20140722 RGD 1566119 H2ax H2A.X variant histone gene DOID:9005779 Polyploidy ISO RGD:1346464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 1566119 H2ax H2A.X variant histone gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:8693706|PMID:23726287 20140718 RGD 1566119 H2ax H2A.X variant histone gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1346464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 1566119 H2ax H2A.X variant histone gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IDA D RGD:8693741|PMID:23265463 20140722 RGD 1566119 H2ax H2A.X variant histone gene DOID:9007661 Dwarfism ISO RGD:1346464 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1566119 H2ax H2A.X variant histone gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:8693739|PMID:23108649 20140722 RGD 1566119 H2ax H2A.X variant histone gene DOID:9008939 Breast Neoplasms ISO RGD:1346464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433|PMID:21463514 1566119 H2ax H2A.X variant histone gene DOID:916 liver benign neoplasm treatment IEP D RGD:8693737|PMID:23474136 20140722 RGD 1566119 H2ax H2A.X variant histone gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1346464 D RGD:150340604|PMID:29928356 20210818 RGD protein:increased expression:mucosa of oral region (human) 1566120 Meikin meiotic kinetochore factor gene DOID:5419 schizophrenia ISO RGD:9685644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1566121 Flg2 filaggrin 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1566121 Flg2 filaggrin 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1566121 Flg2 filaggrin 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1566121 Flg2 filaggrin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603471 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566121 Flg2 filaggrin 2 gene DOID:5812 MHC class II deficiency ISO RGD:1603471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1566121 Flg2 filaggrin 2 gene DOID:630 genetic disease ISO RGD:1603471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566121 Flg2 filaggrin 2 gene DOID:9009226 Peeling Skin Syndrome 6 ISO RGD:1603471 D RGD:7240710 20190315 OMIM 1566121 Flg2 filaggrin 2 gene DOID:9009226 Peeling Skin Syndrome 6 ISO RGD:1603471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 6 PMID:25741868|PMID:28884927|PMID:29505760|PMID:29758285|PMID:36403663 1566121 Flg2 filaggrin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603471 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566122 B9d2 B9 domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:33234550 1566122 B9d2 B9 domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1566122 B9d2 B9 domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1566122 B9d2 B9 domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1566122 B9d2 B9 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1566122 B9d2 B9 domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1566122 B9d2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:1603296 D RGD:7240710 20140911 OMIM 1566122 B9d2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:1603296 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31411728|PMID:33234550 1566122 B9d2 B9 domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1605000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:14675423|PMID:14978175|PMID:15015071|PMID:15253708|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17371932|PMID:17576681|PMID:17899208|PMID:18216321|PMID:18443213|PMID:18709391|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24227627|PMID:24413855|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26594346|PMID:26668027|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30260545|PMID:30295827|PMID:30406062|PMID:30450462|PMID:30655312|PMID:31308032|PMID:32581362|PMID:32604935|PMID:33532864|PMID:8589695|PMID:9536098 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1605000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:16354237|PMID:16898497|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:32604935 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1605000 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19145239|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21355056|PMID:22763815|PMID:23515051|PMID:23645318|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25741868|PMID:26413278|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:30655312|PMID:32581362|PMID:8589695 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605000 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:557 kidney disease ISO RGD:1605000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:576 proteinuria ISO RGD:1605000 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Proteinuria 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:630 genetic disease ISO RGD:1605000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:784 chronic kidney disease ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605000 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1566124 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605000 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566125 Defb2 defensin beta 2 gene DOID:9004484 Sepsis treatment IMP D RGD:9685178|PMID:17177330 20141222 RGD 1566127 Prss53 serine protease 53 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:2860194 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1566127 Prss53 serine protease 53 gene DOID:630 genetic disease ISO RGD:2860194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566130 Fbxo41 F-box protein 41 gene DOID:0050473 Alstrom syndrome ISO RGD:1351223 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1566130 Fbxo41 F-box protein 41 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1351223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1566130 Fbxo41 F-box protein 41 gene DOID:543 dystonia ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1566130 Fbxo41 F-box protein 41 gene DOID:630 genetic disease ISO RGD:1351223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566130 Fbxo41 F-box protein 41 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1566140 Lrrc20 leucine rich repeat containing 20 gene DOID:630 genetic disease ISO RGD:1602483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566146 Krtap4-3 keratin associated protein 4-3 gene DOID:630 genetic disease ISO RGD:1342775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566149 Fam222b family with sequence similarity 222, member B gene DOID:630 genetic disease ISO RGD:1603991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566151 Il20rb interleukin 20 receptor subunit beta gene DOID:14115 toxic shock syndrome ISO RGD:1623828 D RGD:5037232|PMID:18246602 20110303 RGD mRNA:increased expression:multiple 1566151 Il20rb interleukin 20 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1349896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566151 Il20rb interleukin 20 receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349896 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1566154 Yipf6 Yip1 domain family, member 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605821 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566154 Yipf6 Yip1 domain family, member 6 gene DOID:12849 autistic disorder ISO RGD:1605821 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566154 Yipf6 Yip1 domain family, member 6 gene DOID:630 genetic disease ISO RGD:1605821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566155 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:7240710 20180912 OMIM 1566155 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:16217076|PMID:17576681|PMID:20434914|PMID:23315026|PMID:23850239|PMID:24488655|PMID:25683699|PMID:25741868|PMID:25809233|PMID:25817839|PMID:28492532|PMID:9305655|PMID:9536098 1566155 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1566155 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1604972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 1566155 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:12849 autistic disorder ISO RGD:1604972 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566155 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:630 genetic disease ISO RGD:1604972 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23315026|PMID:25809233|PMID:28492532|PMID:9536098 1566163 Nrk Nik related kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344667 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566163 Nrk Nik related kinase gene DOID:12849 autistic disorder ISO RGD:1344667 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566163 Nrk Nik related kinase gene DOID:630 genetic disease ISO RGD:1344667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1566167 Nol9 nucleolar protein 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1566167 Nol9 nucleolar protein 9 gene DOID:630 genetic disease ISO RGD:1605957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566167 Nol9 nucleolar protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605957 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566169 Tmem82 transmembrane protein 82 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603825 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1566169 Tmem82 transmembrane protein 82 gene DOID:630 genetic disease ISO RGD:1603825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566170 Nxf7 nuclear RNA export factor 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346108 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566170 Nxf7 nuclear RNA export factor 7 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1346108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1566170 Nxf7 nuclear RNA export factor 7 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1346108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1566170 Nxf7 nuclear RNA export factor 7 gene DOID:12849 autistic disorder ISO RGD:1346108 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566170 Nxf7 nuclear RNA export factor 7 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1346108 D RGD:8554872 20160705 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:23686279 1566170 Nxf7 nuclear RNA export factor 7 gene DOID:630 genetic disease ISO RGD:1346108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342985 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:7240710 20130221 OMIM 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked PMID:20672378|PMID:23316014|PMID:25741868|PMID:8745901 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:7240710 20130221 OMIM 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:10694306|PMID:19361614|PMID:21426410|PMID:22105905|PMID:24090718|PMID:24313295|PMID:25741868|PMID:28492532 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:7240710 20190315 OMIM 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 PMID:25741868|PMID:27380894 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:7240710 20150708 OMIM 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome, X-linked PMID:17367233|PMID:22931912|PMID:25741868 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342985 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:12849 autistic disorder ISO RGD:1342985 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:630 genetic disease ISO RGD:1342985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1342985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 1566171 Mbtps2 membrane-bound transcription factor peptidase, site 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342985 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566174 Trim58 tripartite motif-containing 58 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1566174 Trim58 tripartite motif-containing 58 gene DOID:1540 parathyroid carcinoma ISO RGD:1349557 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566174 Trim58 tripartite motif-containing 58 gene DOID:630 genetic disease ISO RGD:1349557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566174 Trim58 tripartite motif-containing 58 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349557 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566174 Trim58 tripartite motif-containing 58 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 1566174 Trim58 tripartite motif-containing 58 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349557 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566176 Yeats2 YEATS domain containing 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1347752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1566176 Yeats2 YEATS domain containing 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1347752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 1566176 Yeats2 YEATS domain containing 2 gene DOID:0111546 Currarino syndrome ISO RGD:1347752 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1566176 Yeats2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:7240710 20191225 OMIM 1566176 Yeats2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 PMID:25741868|PMID:28492532 1566176 Yeats2 YEATS domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1347752 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1566176 Yeats2 YEATS domain containing 2 gene DOID:4905 pancreatic carcinoma ISO RGD:1347752 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 1566176 Yeats2 YEATS domain containing 2 gene DOID:630 genetic disease ISO RGD:1347752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566176 Yeats2 YEATS domain containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347752 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 1566178 Klhl14 kelch-like family member 14 gene DOID:1059 intellectual disability ISO RGD:1321388 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566178 Klhl14 kelch-like family member 14 gene DOID:630 genetic disease ISO RGD:1321388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566180 Wdr86 WD repeat domain 86 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 1566180 Wdr86 WD repeat domain 86 gene DOID:2843 long QT syndrome ISO RGD:1604947 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 1566180 Wdr86 WD repeat domain 86 gene DOID:630 genetic disease ISO RGD:1604947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566181 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:607 paraplegia ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1566181 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:630 genetic disease ISO RGD:1347578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566181 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:6846 familial melanoma ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1566181 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1347578 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 1566185 Tppp2 tubulin polymerization-promoting protein family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1566185 Tppp2 tubulin polymerization-promoting protein family member 2 gene DOID:630 genetic disease ISO RGD:1343731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566185 Tppp2 tubulin polymerization-promoting protein family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1566190 Ccdc121rt coiled-coil domain containing 121, retrotransposed gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1566190 Ccdc121rt coiled-coil domain containing 121, retrotransposed gene DOID:630 genetic disease ISO RGD:1603009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566191 Tmem132b transmembrane protein 132B gene DOID:1909 melanoma ISO RGD:1606181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 1566191 Tmem132b transmembrane protein 132B gene DOID:630 genetic disease ISO RGD:1606181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566199 Atad2b ATPase family, AAA domain containing 2B gene DOID:630 genetic disease ISO RGD:1604011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566201 Thsd7a thrombospondin type 1 domain containing 7A gene DOID:3312 bipolar disorder ISO RGD:1602056 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1566201 Thsd7a thrombospondin type 1 domain containing 7A gene DOID:630 genetic disease ISO RGD:1602056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566202 Phgr1 proline, histidine and glycine rich 1 gene DOID:2717 Bloom syndrome ISO RGD:3398935 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1566202 Phgr1 proline, histidine and glycine rich 1 gene DOID:630 genetic disease ISO RGD:3398935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566202 Phgr1 proline, histidine and glycine rich 1 gene DOID:9256 colorectal cancer ISO RGD:3398935 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 1566204 Heatr6 HEAT repeat containing 6 gene DOID:0050777 Joubert syndrome ISO RGD:1606785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1566204 Heatr6 HEAT repeat containing 6 gene DOID:11372 megacolon ISO RGD:1606785 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1566204 Heatr6 HEAT repeat containing 6 gene DOID:630 genetic disease ISO RGD:1606785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:0080773 delta beta-thalassemia ISO RGD:1349201 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:0111969 immunodeficiency 39 ISO RGD:1349201 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349201 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:630 genetic disease ISO RGD:1349201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566209 Polr2l RNA polymerase II, I and III subunit L gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1349201 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1566211 Cd274 CD274 molecule gene DOID:0040083 Chlamydia pneumonia ISO RGD:1553554 D RGD:41412180|PMID:26378990 20210219 RGD mRNA:increased expression:lung 1566211 Cd274 CD274 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1605684 D RGD:41412177|PMID:27418641 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1553554 D RGD:6893669|PMID:21494618 20120917 RGD 1566211 Cd274 CD274 molecule gene DOID:0060058 lymphoma ISO RGD:1605684 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 1566211 Cd274 CD274 molecule gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1605684 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 1566211 Cd274 CD274 molecule gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1553554 D RGD:41410794|PMID:16253242 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1605684 D RGD:41412178|PMID:29058791 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1605684 D RGD:41412182|PMID:27595782 20210219 RGD associated with Epstein-Barr Virus Infections 1566211 Cd274 CD274 molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1605684 D RGD:40818238|PMID:32380498 20201113 RGD 1566211 Cd274 CD274 molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1605684 D RGD:41410803|PMID:32089413 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:10591 pre-eclampsia treatment IEP D RGD:40886269|PMID:27277012 20201203 RGD 1566211 Cd274 CD274 molecule gene DOID:11166 papillomavirus infectious disease ISO RGD:1605684 D RGD:40822817|PMID:23521696 20201201 RGD associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell 1566211 Cd274 CD274 molecule gene DOID:11260 rabies ISO RGD:1553554 D RGD:41410795|PMID:18490751 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:1205 allergic disease ISO RGD:1605684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20488241|PMID:23624239 1566211 Cd274 CD274 molecule gene DOID:12148 alveolar echinococcosis treatment ISO RGD:1553554 D RGD:41410787|PMID:30315719 20210212 RGD 1566211 Cd274 CD274 molecule gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1553554 D RGD:41410802|PMID:23230000 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553554 D RGD:11056952|PMID:25465101 20201112 RGD protein:increased expression: lung 1566211 Cd274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1553554 D RGD:11056952|PMID:25465101 20201112 RGD 1566211 Cd274 CD274 molecule gene DOID:14115 toxic shock syndrome ISO RGD:1605684 D RGD:40822808|PMID:29702526 20201130 RGD protein:increased expression:serum 1566211 Cd274 CD274 molecule gene DOID:14115 toxic shock syndrome severity ISO RGD:1605684 D RGD:41410786|PMID:26063974 20210212 RGD protein:increased expression:lymphocyte, mononcyte 1566211 Cd274 CD274 molecule gene DOID:1731 histoplasmosis ISO RGD:1553554 D RGD:40822806|PMID:18268348 20201130 RGD protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes, 1566211 Cd274 CD274 molecule gene DOID:1883 hepatitis C ISO RGD:1605684 D RGD:41410799|PMID:20513078 20210215 RGD protein:increased expression:dendritic cell 1566211 Cd274 CD274 molecule gene DOID:2048 autoimmune hepatitis ISO RGD:1553554 D RGD:41412171|PMID:19781375 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:219 colon cancer treatment ISO RGD:1553554 D RGD:41410791|PMID:28424330 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:2394 ovarian cancer ISO RGD:1553554 D RGD:41410797|PMID:23340297 20210215 RGD associated with ovarian cancer 1566211 Cd274 CD274 molecule gene DOID:2394 ovarian cancer treatment ISO RGD:1553554 D RGD:41410791|PMID:28424330 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:2841 asthma treatment ISO RGD:1553554 D RGD:41412180|PMID:26378990 20210219 RGD associated with Chlamydia pneumonia 1566211 Cd274 CD274 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1605684 D RGD:40818418|PMID:23661793 20201120 RGD protein:increased expression:Tcell, B cell, monocyte 1566211 Cd274 CD274 molecule gene DOID:303 substance-related disorder ISO RGD:1605684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1566211 Cd274 CD274 molecule gene DOID:3951 acute myocarditis ISO RGD:1553554 D RGD:40822819|PMID:17434153 20201201 RGD associated with Coxsackievirus Infections;protein:increased expression:ventricle: 1566211 Cd274 CD274 molecule gene DOID:399 tuberculosis ISO RGD:1605684 D RGD:41412173|PMID:21509782 20210219 RGD mRNA, protein:increased expression:blood, neutrophil 1566211 Cd274 CD274 molecule gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1553554 D RGD:7248671|PMID:21965585 20141105 RGD 1566211 Cd274 CD274 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605684 D RGD:41412179|PMID:30161254 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605684 D RGD:41412181|PMID:30236481 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:630 genetic disease ISO RGD:1605684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566211 Cd274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:40818239|PMID:31105690 20201113 RGD protein:increased expression: myeloid cells, microglia, astrocytes 1566211 Cd274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:6893671|PMID:20876353 20120917 RGD 1566211 Cd274 CD274 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1605684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 1566211 Cd274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:40818240|PMID:30267213 20201113 RGD associated with hepatitis B 1566211 Cd274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:41410800|PMID:21912640 20210215 RGD associated with hepatitis B 1566211 Cd274 CD274 molecule gene DOID:824 periodontitis IEP D RGD:40886271|PMID:32346701 20201203 RGD protein:increased expression:periodontium 1566211 Cd274 CD274 molecule gene DOID:8469 influenza ISO RGD:1605684 D RGD:41410793|PMID:24187568 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:8566 herpes simplex ISO RGD:1553554 D RGD:41412169|PMID:29669784 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1605684 D RGD:40822817|PMID:23521696 20201201 RGD associated with Papillomavirus Infections; protein:increased expression:dendritic cell 1566211 Cd274 CD274 molecule gene DOID:9000039 Spinal Cord Injuries IEP D RGD:40886268|PMID:29665726 20201203 RGD mRNA:increased expression:microglial cell 1566211 Cd274 CD274 molecule gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1553554 D RGD:40818421|PMID:30904424 20201120 RGD 1566211 Cd274 CD274 molecule gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:1605684 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 1566211 Cd274 CD274 molecule gene DOID:9000918 Disease Progression ISO RGD:1605684 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27692344 1566211 Cd274 CD274 molecule gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1605684 D RGD:41410797|PMID:23340297 20210215 RGD associated with ovarian cancer 1566211 Cd274 CD274 molecule gene DOID:9001228 Fungemia treatment ISO RGD:1553554 D RGD:40818234|PMID:23663657 20201112 RGD 1566211 Cd274 CD274 molecule gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1605684 D RGD:40822813|PMID:22322668 20201130 RGD protein:increased expression: larynx 1566211 Cd274 CD274 molecule gene DOID:9002801 Recurrence ISO RGD:1605684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 1566211 Cd274 CD274 molecule gene DOID:9003223 Corneal Graft Rejection treatment IMP D RGD:41412184|PMID:22300371 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:9004017 Chronic Hepatitis C ISO RGD:1605684 D RGD:41410796|PMID:18086898 20210215 RGD protein:increased expression:peripheral blood mononuclear cell 1566211 Cd274 CD274 molecule gene DOID:9004283 Transplant Rejection ISO RGD:1553554 D RGD:8657367|PMID:14662900 20140609 RGD 1566211 Cd274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:40818235|PMID:30595665 20201112 RGD protein:increased expression:monocyte 1566211 Cd274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:40818424|PMID:29661225 20201123 RGD protein:increased expression:B cell,CD4T cell 1566211 Cd274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:40822808|PMID:29702526 20201130 RGD 1566211 Cd274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:41412183|PMID:27156867 20210219 RGD protein:increased expression:monocyte 1566211 Cd274 CD274 molecule gene DOID:9005161 Thymus Neoplasms ISO RGD:1605684 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 1566211 Cd274 CD274 molecule gene DOID:9005172 Lung Neoplasms ISO RGD:1605684 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:27692344|PMID:34166680 1566211 Cd274 CD274 molecule gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:40886270|PMID:29043842 20201203 RGD 1566211 Cd274 CD274 molecule gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1553554 D RGD:41410793|PMID:24187568 20210215 RGD 1566211 Cd274 CD274 molecule gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1553554 D RGD:41412175|PMID:25907244 20210219 RGD mRNA, protein:increased expression:liver 1566211 Cd274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1553554 D RGD:40818270|PMID:22797302 20201117 RGD mRNA:increased expression:lung 1566211 Cd274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis treatment ISO RGD:1553554 D RGD:40818270|PMID:22797302 20201117 RGD 1566211 Cd274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605684 D RGD:11344683|PMID:26266813 20210219 RGD protein:increased expression:regulatory T cell 1566211 Cd274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1553554 D RGD:41412166|PMID:20460044 20210219 RGD 1566211 Cd274 CD274 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1553554 D RGD:41410801|PMID:16358363 20210215 RGD 1566214 Fam217a family with sequence similarity 217, member A gene DOID:630 genetic disease ISO RGD:1345120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566215 Copg2 COPI coat complex subunit gamma 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347391 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566215 Copg2 COPI coat complex subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1347391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566215 Copg2 COPI coat complex subunit gamma 2 gene DOID:9004657 Weight Gain ISO RGD:1347391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1566220 Heatr4 HEAT repeat containing 4 gene DOID:0080600 COVID-19 ISO RGD:1602622 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566220 Heatr4 HEAT repeat containing 4 gene DOID:1059 intellectual disability ISO RGD:1602622 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 1566220 Heatr4 HEAT repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566220 Heatr4 HEAT repeat containing 4 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602622 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 1566222 Ccdc106 coiled-coil domain containing 106 gene DOID:630 genetic disease ISO RGD:1607037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566224 Tmem70 transmembrane protein 70 gene DOID:0050700 cardiomyopathy ISO RGD:1603032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 1566224 Tmem70 transmembrane protein 70 gene DOID:0050868 hepatocellular adenoma ISO RGD:1603032 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 1566224 Tmem70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:7240710 20141015 OMIM 1566224 Tmem70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 PMID:16199547|PMID:17576681|PMID:1895334|PMID:18953340|PMID:20335238|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21147908|PMID:21815885|PMID:21945727|PMID:22433607|PMID:22986587|PMID:24033266|PMID:24485043|PMID:24740313|PMID:25326274|PMID:25741868|PMID:25825456|PMID:26467025|PMID:26550569|PMID:28492532|PMID:30950220|PMID:9536098 1566224 Tmem70 transmembrane protein 70 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1603032 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 1566224 Tmem70 transmembrane protein 70 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1603032 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 1566224 Tmem70 transmembrane protein 70 gene DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532 1566224 Tmem70 transmembrane protein 70 gene DOID:630 genetic disease ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18953340|PMID:21147908|PMID:24740313|PMID:25741868|PMID:28492532 1566224 Tmem70 transmembrane protein 70 gene DOID:684 hepatocellular carcinoma ISO RGD:1603032 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 1566224 Tmem70 transmembrane protein 70 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1603032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 1566227 U2surp-ps1 U2 snRNP-associated SURP domain containing, pseudogene 1 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605341 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1605341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1605341 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1605341 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1605341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605341 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566232 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1605341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 1566234 Grb10 growth factor receptor bound protein 10 gene DOID:0080600 COVID-19 ISO RGD:1352618 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566234 Grb10 growth factor receptor bound protein 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352618 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566234 Grb10 growth factor receptor bound protein 10 gene DOID:630 genetic disease ISO RGD:1352618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566236 H1f8 H1.8 linker histone gene DOID:0111947 immunodeficiency 21 ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1566236 H1f8 H1.8 linker histone gene DOID:630 genetic disease ISO RGD:1347696 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566236 H1f8 H1.8 linker histone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1566236 H1f8 H1.8 linker histone gene DOID:9270 alkaptonuria ISO RGD:1347696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1566239 Rex1bd required for excision 1-B domain containing gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1558185 D RGD:10045601|PMID:19451219 20150612 RGD 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:10045603|PMID:17846994 20150612 RGD DNA:missense mutation: :109G>C (p.E37Q) (human) 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705017 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:7240710 20131030 OMIM 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17576681|PMID:17846994|PMID:25056293|PMID:25371195|PMID:25741868|PMID:28492532|PMID:29237418|PMID:9536098 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:3633 beta-mannosidosis ISO RGD:1603794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:630 genetic disease ISO RGD:1603794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566242 Cisd2 CDGSH iron sulfur domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603794 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1566243 Nxpe1 neurexophilin and PC-esterase domain family, member 1 gene DOID:1059 intellectual disability ISO RGD:1352335 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566243 Nxpe1 neurexophilin and PC-esterase domain family, member 1 gene DOID:630 genetic disease ISO RGD:1352335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566243 Nxpe1 neurexophilin and PC-esterase domain family, member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352335 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1566255 Spmip2 sperm associated microtubule inner protein 2 gene DOID:630 genetic disease ISO RGD:1602179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345228 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1345228 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345228 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1345228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30879638 1566256 Brsk2 BR serine/threonine kinase 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080205 CAKUT ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:30143558 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080206 CAKUT1 ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to PMID:25741868|PMID:26026792|PMID:30143558 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080600 COVID-19 ISO RGD:1348930 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1348930 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:12712 nephronophthisis ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:1312 focal segmental glomerulosclerosis ISS RGD:1557733 D RGD:13592920 20230323 MouseDO 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1348930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates IMP D RGD:242905191|PMID:31356825 20230327 RGD 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:7240710 20150909 OMIM 1566260 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:23539728|PMID:25741868|PMID:28492532 1566266 Tctn1 tectonic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098 1566266 Tctn1 tectonic family member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21725307 1566266 Tctn1 tectonic family member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098 1566266 Tctn1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:7240710 20190315 OMIM 1566266 Tctn1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25558065|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:32949114|PMID:34645488 1566266 Tctn1 tectonic family member 1 gene DOID:630 genetic disease ISO RGD:1606246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1566266 Tctn1 tectonic family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 1566266 Tctn1 tectonic family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606246 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:26092869 1566266 Tctn1 tectonic family member 1 gene DOID:9008582 Developmental Disease ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26489806|PMID:28492532 1566269 Neto1 neuropilin and tolloid like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348864 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1566269 Neto1 neuropilin and tolloid like 1 gene DOID:630 genetic disease ISO RGD:1348864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566269 Neto1 neuropilin and tolloid like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1348864 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 1566269 Neto1 neuropilin and tolloid like 1 gene DOID:8445 intestinal volvulus ISO RGD:1348864 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1566269 Neto1 neuropilin and tolloid like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348864 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566269 Neto1 neuropilin and tolloid like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348864 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1566279 Tmem74 transmembrane protein 74 gene DOID:630 genetic disease ISO RGD:1605858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566282 Rnf128 ring finger protein 128 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603197 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566282 Rnf128 ring finger protein 128 gene DOID:1227 neutropenia ISO RGD:1603197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868 1566282 Rnf128 ring finger protein 128 gene DOID:12849 autistic disorder ISO RGD:1603197 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566282 Rnf128 ring finger protein 128 gene DOID:630 genetic disease ISO RGD:1603197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566283 Zfp133 zinc finger protein 133 gene DOID:630 genetic disease ISO RGD:1343941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1350856 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350856 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350856 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350856 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1566287 Praf2 PRA1 domain family, member 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1566287 Praf2 PRA1 domain family, member 2 gene DOID:12849 autistic disorder ISO RGD:1350856 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566287 Praf2 PRA1 domain family, member 2 gene DOID:630 genetic disease ISO RGD:1350856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566287 Praf2 PRA1 domain family, member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350856 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1566295 Aldh16a1 aldehyde dehydrogenase 16 family, member A1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1566295 Aldh16a1 aldehyde dehydrogenase 16 family, member A1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1350465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 1566295 Aldh16a1 aldehyde dehydrogenase 16 family, member A1 gene DOID:13189 gout ISO RGD:1350465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983786 1566295 Aldh16a1 aldehyde dehydrogenase 16 family, member A1 gene DOID:1920 hyperuricemia ISO RGD:1350465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 1566295 Aldh16a1 aldehyde dehydrogenase 16 family, member A1 gene DOID:630 genetic disease ISO RGD:1350465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566296 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1605622 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1566296 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:303 substance-related disorder ISO RGD:1605622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1566296 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1605622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1566296 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:7240710 20220413 OMIM 1566296 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 PMID:25741868|PMID:32855533 1566296 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1605622 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1566298 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344351 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566298 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 1566298 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:12849 autistic disorder ISO RGD:1344351 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566298 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1566298 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:630 genetic disease ISO RGD:1344351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566298 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344351 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566306 Cdca8 cell division cycle associated 8 gene DOID:0080600 COVID-19 ISO RGD:1346860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566306 Cdca8 cell division cycle associated 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346860 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1566306 Cdca8 cell division cycle associated 8 gene DOID:630 genetic disease ISO RGD:1346860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566306 Cdca8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1346860 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1566306 Cdca8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346860 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 1566307 Lilrb3 leukocyte immunoglobulin like receptor B3 gene DOID:0080600 COVID-19 ISO RGD:1351276 D RGD:9068941 20210115 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566307 Lilrb3 leukocyte immunoglobulin like receptor B3 gene DOID:630 genetic disease ISO RGD:1351276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566307 Lilrb3 leukocyte immunoglobulin like receptor B3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351276 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1566309 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0050437 Danon disease ISO RGD:1351169 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1566309 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351169 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566309 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1566309 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1566309 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:12849 autistic disorder ISO RGD:1351169 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566309 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:630 genetic disease ISO RGD:1351169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566310 Golt1a golgi transport 1A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1566310 Golt1a golgi transport 1A gene DOID:12849 autistic disorder ISO RGD:1346868 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566310 Golt1a golgi transport 1A gene DOID:1540 parathyroid carcinoma ISO RGD:1346868 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566310 Golt1a golgi transport 1A gene DOID:630 genetic disease ISO RGD:1346868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566310 Golt1a golgi transport 1A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1566310 Golt1a golgi transport 1A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346868 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566312 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1566312 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353450 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566312 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:7240710 20190315 OMIM 1566312 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked PMID:25741868|PMID:28041644|PMID:28492532|PMID:32170493 1566312 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:12849 autistic disorder ISO RGD:1353450 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566312 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30067075 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1347044 D RGD:11554173 20220125 CTD CTD Direct Evidence: marker/mechanism 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1347044 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:27839872|PMID:32499604 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:7240710 20220119 OMIM 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 8 PMID:25741868|PMID:27839872|PMID:28492532|PMID:32499604 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:3007 breast ductal carcinoma ISO RGD:1347044 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1347044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:9008296 Eye Abnormalities ISO RGD:1347044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal anterior eye segment morphology PMID:25741868 1566313 Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347044 D RGD:11554173 20220125 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1566314 Ccdc191 coiled-coil domain containing 191 gene DOID:630 genetic disease ISO RGD:1350923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566317 Tesc tescalcin gene DOID:630 genetic disease ISO RGD:1606266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566318 Alkbh6 alkB homolog 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1566318 Alkbh6 alkB homolog 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1566318 Alkbh6 alkB homolog 6 gene DOID:630 genetic disease ISO RGD:1605913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566319 Sesn2 sestrin 2 gene DOID:630 genetic disease ISO RGD:1346813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566319 Sesn2 sestrin 2 gene DOID:9005369 Hepatomegaly ISO RGD:1346813 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:28209544 1566319 Sesn2 sestrin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346813 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:28209544 1566319 Sesn2 sestrin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346813 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:31054940 1566321 Fignl2 fidgetin-like 2 gene DOID:630 genetic disease ISO RGD:1603328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1604829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:7240710 20140911 OMIM 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:29590070|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351|PMID:8546134 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:12849 autistic disorder ISO RGD:1604829 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:5419 schizophrenia ISO RGD:1604829 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604829 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:630 genetic disease ISO RGD:1604829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604829 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004652 Megalocytic Interstitial Nephritis ISO RGD:1604829 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772369 1566323 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1604829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 1566329 Zfp652 zinc finger protein 652 gene DOID:630 genetic disease ISO RGD:1350708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:1059 intellectual disability ISO RGD:1352009 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:1059 intellectual disability ISO RGD:1352009 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:1115 sarcoma treatment ISO RGD:1352009 D RGD:151660332|PMID:31089155 20220303 RGD 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1352009 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:630 genetic disease ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1352009 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868|PMID:28492532 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:7240710 20190315 OMIM 1566332 Pdhx pyruvate dehydrogenase complex, component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency PMID:11935326|PMID:12557299|PMID:16566017|PMID:16904023|PMID:17152059|PMID:21914562|PMID:21937992|PMID:25087164|PMID:25326635|PMID:25741868|PMID:28492532|PMID:8229524|PMID:8584393|PMID:9399911|PMID:9467010 1566335 Mboat4 membrane bound O-acyltransferase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566336 Cep72 centrosomal protein 72 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1603993 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1566336 Cep72 centrosomal protein 72 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1603993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1566336 Cep72 centrosomal protein 72 gene DOID:630 genetic disease ISO RGD:1603993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566336 Cep72 centrosomal protein 72 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1603993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1566339 Mmgt1 membrane magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343591 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566339 Mmgt1 membrane magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1343591 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566339 Mmgt1 membrane magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1343591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566341 Ccdc71 coiled-coil domain containing 71 gene DOID:0060852 Pierson syndrome ISO RGD:1601742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1566341 Ccdc71 coiled-coil domain containing 71 gene DOID:630 genetic disease ISO RGD:1601742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566341 Ccdc71 coiled-coil domain containing 71 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601742 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1566342 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:1909 melanoma ISO RGD:1351002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15899824 1566342 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351002 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566342 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:630 genetic disease ISO RGD:1351002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566342 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 1566346 Tes testin LIM domain protein gene DOID:3068 glioblastoma ISO RGD:1603311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 1566346 Tes testin LIM domain protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603311 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566346 Tes testin LIM domain protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603311 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1566346 Tes testin LIM domain protein gene DOID:630 genetic disease ISO RGD:1603311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566346 Tes testin LIM domain protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1566350 Cdh12 cadherin 12 gene DOID:630 genetic disease ISO RGD:1343875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566350 Cdh12 cadherin 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343875 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1566350 Cdh12 cadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343875 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566351 Fam78a family with sequence similarity 78, member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1566351 Fam78a family with sequence similarity 78, member A gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1354321 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1566351 Fam78a family with sequence similarity 78, member A gene DOID:630 genetic disease ISO RGD:1354321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566357 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1566357 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1566357 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606122 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1566357 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1566357 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1606122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566357 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1566359 RGD1566359 similar to RIKEN cDNA B230219D22 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1566359 RGD1566359 similar to RIKEN cDNA B230219D22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605291 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566359 RGD1566359 similar to RIKEN cDNA B230219D22 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1566367 Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603498 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566367 Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1603498 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 1566367 Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A gene DOID:12849 autistic disorder ISO RGD:1603498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566367 Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A gene DOID:630 genetic disease ISO RGD:1603498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566380 Ciart circadian associated repressor of transcription gene DOID:0111940 immunodeficiency 42 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1566380 Ciart circadian associated repressor of transcription gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1566380 Ciart circadian associated repressor of transcription gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1566380 Ciart circadian associated repressor of transcription gene DOID:1540 parathyroid carcinoma ISO RGD:1347816 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1566380 Ciart circadian associated repressor of transcription gene DOID:5812 MHC class II deficiency ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1566380 Ciart circadian associated repressor of transcription gene DOID:630 genetic disease ISO RGD:1347816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566380 Ciart circadian associated repressor of transcription gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347816 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1566382 Serpinb12 serpin family B member 12 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343942 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1566382 Serpinb12 serpin family B member 12 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 1566382 Serpinb12 serpin family B member 12 gene DOID:630 genetic disease ISO RGD:1343942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566385 Gpr75 G protein-coupled receptor 75 gene DOID:630 genetic disease ISO RGD:1343209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566386 Znf846 zinc finger protein 846 gene DOID:12849 autistic disorder ISO RGD:36947464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566386 Znf846 zinc finger protein 846 gene DOID:630 genetic disease ISO RGD:36947464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566388 Trim71 tripartite motif containing 71 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606726 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1566388 Trim71 tripartite motif containing 71 gene DOID:0080600 COVID-19 ISO RGD:1606726 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566388 Trim71 tripartite motif containing 71 gene DOID:10908 hydrocephalus ISO RGD:1606726 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:25741868|PMID:29983323 1566388 Trim71 tripartite motif containing 71 gene DOID:630 genetic disease ISO RGD:1606726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566388 Trim71 tripartite motif containing 71 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1606726 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868 1566388 Trim71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:7240710 20200422 OMIM 1566388 Trim71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 PMID:25741868|PMID:29983323 1566390 Mcts1 MCTS1, re-initiation and release factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351081 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566390 Mcts1 MCTS1, re-initiation and release factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1566390 Mcts1 MCTS1, re-initiation and release factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1566390 Mcts1 MCTS1, re-initiation and release factor gene DOID:12849 autistic disorder ISO RGD:1351081 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1343050 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:5128872|PMID:20194813 20110322 RGD 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:5128878|PMID:19373511 20110322 RGD mRNA:increased expression:respiratory tract 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma severity ISO RGD:1343050 D RGD:4145380|PMID:17339047 20110322 RGD mRNA:increased expression:bronchus 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1343050 D RGD:2325243|PMID:17979891 20100527 RGD mRNA:increased expression:pancreas 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:630 genetic disease ISO RGD:1343050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1320020 D RGD:2325244|PMID:9670863 20100527 RGD 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1320020 D RGD:2325244|PMID:9670863 20100527 RGD 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24646716 1566394 Adam8 ADAM metallopeptidase domain 8 gene DOID:9498 pulmonary eosinophilia ISO RGD:1343050 D RGD:5128874|PMID:19625177 20110322 RGD protein:increased expression:serum 1566396 Lyset lysosomal enzyme trafficking factor gene DOID:0080054 achondrogenesis type IA ISO RGD:1349199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1566396 Lyset lysosomal enzyme trafficking factor gene DOID:1059 intellectual disability ISO RGD:1349199 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Intellectual disability 1566396 Lyset lysosomal enzyme trafficking factor gene DOID:630 genetic disease ISO RGD:1349199 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566396 Lyset lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:7240710 20210818 OMIM 1566396 Lyset lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE PMID:33252156 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353330 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353330 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353330 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:12849 autistic disorder ISO RGD:1353330 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566398 Ppp1r3f protein phosphatase 1, regulatory subunit 3F gene DOID:630 genetic disease ISO RGD:1353330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0060263 porencephaly ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:7240710 20170201 OMIM 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type PMID:18798845|PMID:21344633|PMID:22077973|PMID:22265014|PMID:22715153|PMID:23236640|PMID:23436491|PMID:25326637|PMID:25424711|PMID:25741868|PMID:25741872|PMID:26334766|PMID:26938784|PMID:27696664|PMID:28492532|PMID:28758091|PMID:30353918|PMID:32424177|PMID:8055130 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1353532 D RGD:9588484|PMID:22077973 20141029 RGD DNA:mutations:cds:multiple (human) 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0080204 renal hypoplasia ISO RGD:1353532 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0080205 CAKUT ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0090125 brain small vessel disease 1 ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GOULD SYNDROME 1 PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:0111547 retinal arterial tortuosity ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:10348 blepharophimosis ISO RGD:1353532 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:1059 intellectual disability ISO RGD:1353532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23236640|PMID:25424711|PMID:25741868|PMID:26334766|PMID:28492532 1566399 Kat6b lysine acetyltransferase 6B gene DOID:10892 hypospadias ISO RGD:1353532 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:11383 cryptorchidism ISO RGD:1353532 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:127 leiomyoma ISO RGD:1353532 D RGD:9590338|PMID:15313893 20141125 RGD DNA:translocation:intron:IVS3 (human) 1566399 Kat6b lysine acetyltransferase 6B gene DOID:12712 nephronophthisis ISO RGD:1353532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:30143558 1566399 Kat6b lysine acetyltransferase 6B gene DOID:14780 KBG syndrome ISO RGD:1353532 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:1612 breast cancer ISO RGD:1353532 D RGD:9590339|PMID:23800003 20141125 RGD DNA:missense mutations:cds:p.D1516Y, p.R1577C (human) 1566399 Kat6b lysine acetyltransferase 6B gene DOID:1826 epilepsy ISO RGD:1353532 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1566399 Kat6b lysine acetyltransferase 6B gene DOID:2340 craniosynostosis ISO RGD:1353532 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 1566399 Kat6b lysine acetyltransferase 6B gene DOID:3070 high grade glioma ISO RGD:1353532 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1566399 Kat6b lysine acetyltransferase 6B gene DOID:3312 bipolar disorder ISO RGD:1353532 D RGD:9588521|PMID:24444492 20141029 RGD DNA:mutations:multiple (human) 1566399 Kat6b lysine acetyltransferase 6B gene DOID:3490 Noonan syndrome ISO RGD:1617572 D RGD:9590337|PMID:21804188 20141125 RGD 1566399 Kat6b lysine acetyltransferase 6B gene DOID:3490 Noonan syndrome ISS RGD:1617572 D RGD:13592920 20180518 MouseDO 1566399 Kat6b lysine acetyltransferase 6B gene DOID:630 genetic disease ISO RGD:1353532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22265014|PMID:23436491|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29226580|PMID:32424177 1566399 Kat6b lysine acetyltransferase 6B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1353532 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9003591 Telecanthus ISO RGD:1353532 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353532 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9005367 Arachnodactyly ISO RGD:1353532 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arachnodactyly 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:7240710 20141015 OMIM 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Autosomal dominant KAT6B-related disorders | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders PMID:12210329|PMID:12210330|PMID:16761293|PMID:17576681|PMID:21344633|PMID:22077973|PMID:22265014|PMID:22265017|PMID:22715153|PMID:23236640|PMID:23436491|PMID:24033266|PMID:25326635|PMID:25424711|PMID:25473036|PMID:25741868|PMID:25741872|PMID:25937001|PMID:26938784|PMID:27880066|PMID:28166811|PMID:28492532|PMID:28696035|PMID:28758091|PMID:29226580|PMID:30143558|PMID:30919572|PMID:32170002|PMID:32424177|PMID:33004838|PMID:9536098 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1353532 D RGD:9588485|PMID:22265017 20141029 RGD DNA:mutations:cds:multiple (human) 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:28492532 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1353532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 1566399 Kat6b lysine acetyltransferase 6B gene DOID:9620 vesicoureteral reflux ISO RGD:1353532 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 1566400 Map3k19 mitogen-activated protein kinase kinase kinase 19 gene DOID:630 genetic disease ISO RGD:1604798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566401 Meg3 maternally expressed 3 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1351308 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 1566401 Meg3 maternally expressed 3 gene DOID:12858 Huntington's disease ISO RGD:1351308 D RGD:9068941 20220616 RGD up-regulated PMID:22202438|REF_RGD_ID:11073597 1566401 Meg3 maternally expressed 3 gene DOID:674 cleft palate ISO RGD:1351308 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:33812962 1566401 Meg3 maternally expressed 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351308 D RGD:11554173 20220614 CTD CTD Direct Evidence: therapeutic PMID:34520792 1566403 Tmem181 transmembrane protein 181 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 1566403 Tmem181 transmembrane protein 181 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 1566403 Tmem181 transmembrane protein 181 gene DOID:630 genetic disease ISO RGD:1350892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566405 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1566405 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1566405 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:5812 MHC class II deficiency ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 1566405 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:630 genetic disease ISO RGD:1343449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566407 Efhb EF hand domain family, member B gene DOID:0060417 3p deletion syndrome ISO RGD:1349676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1566407 Efhb EF hand domain family, member B gene DOID:630 genetic disease ISO RGD:1349676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566408 Lin28a lin-28 homolog A gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1316876 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1566408 Lin28a lin-28 homolog A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1316876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1566408 Lin28a lin-28 homolog A gene DOID:14566 disease of cellular proliferation ISO RGD:1316876 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 1566408 Lin28a lin-28 homolog A gene DOID:2154 nephroblastoma ISS RGD:1316877 D RGD:13592920 20180518 MouseDO OMIM:194070 1566408 Lin28a lin-28 homolog A gene DOID:630 genetic disease ISO RGD:1316876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566408 Lin28a lin-28 homolog A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316876 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26910839 1566408 Lin28a lin-28 homolog A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316876 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 1566410 Tex36 testis expressed 36 gene DOID:630 genetic disease ISO RGD:1352588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566413 Cldnd2 claudin domain containing 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 1566413 Cldnd2 claudin domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1604242 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1566413 Cldnd2 claudin domain containing 2 gene DOID:630 genetic disease ISO RGD:1604242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566416 Dok7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:7240710 20130221 OMIM 1566416 Dok7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:10222457|PMID:1483054|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392|PMID:33146414|PMID:9536098 1566416 Dok7 docking protein 7 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 1566416 Dok7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:7240710 20190501 OMIM 1566416 Dok7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425|PMID:31880392 1566416 Dok7 docking protein 7 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:9536098 1566416 Dok7 docking protein 7 gene DOID:1206 Rett syndrome ISO RGD:1604958 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16917026|PMID:18161030|PMID:18626973|PMID:21850686|PMID:22661499|PMID:25741868|PMID:28492532|PMID:31880392 1566416 Dok7 docking protein 7 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604958 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1566416 Dok7 docking protein 7 gene DOID:1856 cherubism ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1566416 Dok7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29118959|PMID:31880392 1566416 Dok7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392 1566416 Dok7 docking protein 7 gene DOID:630 genetic disease ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 1566418 LOC498154 hypothetical protein LOC498154 gene DOID:630 genetic disease ISO RGD:1603950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566420 Fbxl8 F-box and leucine-rich repeat protein 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1566420 Fbxl8 F-box and leucine-rich repeat protein 8 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1566420 Fbxl8 F-box and leucine-rich repeat protein 8 gene DOID:630 genetic disease ISO RGD:1352579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566421 Nipsnap2 nipsnap homolog 2 gene DOID:12849 autistic disorder ISO RGD:1345241 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1566421 Nipsnap2 nipsnap homolog 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345241 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1566421 Nipsnap2 nipsnap homolog 2 gene DOID:630 genetic disease ISO RGD:1345241 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566425 Tmem199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:7240710 20190315 OMIM 1566425 Tmem199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TMEM199-CDG PMID:19067230|PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 1566425 Tmem199 transmembrane protein 199 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 1566425 Tmem199 transmembrane protein 199 gene DOID:630 genetic disease ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1566426 Ncoa7 nuclear receptor coactivator 7 gene DOID:630 genetic disease ISO RGD:1603583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1566426 Ncoa7 nuclear receptor coactivator 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603583 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1566455 HTX/HcjRrrc strain DOID:10908 hydrocephalus MODEL:spontaneous IAGP D RGD:1559414|PMID:7257730 19990101 RGD 1566456 BDIX/Zte strain DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576302 Schws4 Schwannoma susceptibility QTL 4 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576303 Ept7 Estrogen-induced pituitary tumorigenesis QTL 7 qtl DOID:9002234 Pituitary Neoplasms IDA D RGD:1642526|PMID:17876666 20070928 RGD 1576304 Schws7 Schwannoma susceptibility QTL 7 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576305 Emca6 Estrogen-induced mammary cancer QTL 6 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1642522|PMID:16885383 20120810 RGD 1576306 Schws3 Schwannoma susceptibility QTL 3 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576307 Cia28 Collagen induced arthritis QTL 28 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1359065|PMID:15944295 20130711 RGD 1576308 Schws1 Schwannoma susceptibility QTL 1 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576309 Emca7 Estrogen-induced mammary cancer QTL 7 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1642522|PMID:16885383 20120810 RGD 1576310 Schws2 Schwannoma susceptibility QTL 2 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576311 Pia26 Pristane induced arthritis QTL 26 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1358860|PMID:15641042 20081215 RGD 1576311 Pia26 Pristane induced arthritis QTL 26 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1359065|PMID:15944295 20130711 RGD 1576312 Emca8 Estrogen-induced mammary cancer QTL 8 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1642522|PMID:16885383 20120810 RGD 1576313 Pia25 Pristane induced arthritis QTL 25 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1359065|PMID:15944295 20130711 RGD 1576314 Eutr1 Estrogen induced uterine response QTL 1 qtl DOID:104 bacterial infectious disease IAGP D RGD:1559292|PMID:16284801 19990101 RGD 1576314 Eutr1 Estrogen induced uterine response QTL 1 qtl DOID:9005372 Inflammation IAGP D RGD:1559292|PMID:16284801 19990101 RGD 1576315 Schws6 Schwannoma susceptibility QTL 6 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576316 Ept5 Estrogen-induced pituitary tumorigenesis QTL 5 qtl DOID:9002234 Pituitary Neoplasms IDA D RGD:1642526|PMID:17876666 20070928 RGD 1576317 Eutr2 Estrogen induced uterine response QTL 2 qtl DOID:104 bacterial infectious disease IAGP D RGD:1559291|PMID:16284802 19990101 RGD 1576317 Eutr2 Estrogen induced uterine response QTL 2 qtl DOID:9005372 Inflammation IAGP D RGD:1559291|PMID:16284802 19990101 RGD 1576318 Schws5 Schwannoma susceptibility QTL 5 qtl DOID:3192 neurilemmoma IAGP D RGD:1559300|PMID:16003739 19990101 RGD 1576319 Cia29 Collagen induced arthritis QTL 29 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1359065|PMID:15944295 20130711 RGD 1578646 Bmd18 Bone mineral density QTL 18 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578647 Bmd17 Bone mineral density QTL 17 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578648 Bss11 Bone structure and strength QTL 11 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578649 Bmd8 Bone mineral density QTL 8 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578650 Bmd6 Bone mineral density QTL 6 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578651 Bmd7 Bone mineral density QTL 7 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578652 Bmd15 Bone mineral density QTL 15 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578653 Vnigr3 Vascular neointimal growth QTL 3 qtl DOID:9002221 Hyperplasia IAGP D RGD:1578306|PMID:16434542 19990101 RGD 1578654 Bss10 Bone structure and strength QTL 10 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578655 Bmd11 Bone mineral density QTL 11 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578656 Vnigr2 Vascular neointimal growth QTL 2 qtl DOID:9002221 Hyperplasia IAGP D RGD:1578306|PMID:16434542 19990101 RGD 1578657 Bss12 Bone structure and strength QTL 12 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578658 Bss13 Bone structure and strength QTL 13 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578659 Tspe1 Trichinella spiralis expulsion QTL 1 qtl DOID:9002892 Parasitic Intestinal Diseases IAGP D RGD:1578305|PMID:16465509 19990101 RGD 1578659 Tspe1 Trichinella spiralis expulsion QTL 1 qtl DOID:9002992 Nematode Infections IAGP D RGD:1578305|PMID:16465509 19990101 RGD 1578660 Bss19 Bone structure and strength QTL 19 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578661 Bss20 Bone structure and strength QTL 20 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578662 Bss15 Bone structure and strength QTL 15 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578663 Bss18 Bone structure and strength QTL 18 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578664 Bmd9 Bone mineral QTL density 9 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578665 Bss16 Bone structure and strength QTL 16 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578666 Vnigr1 Vascular neointimal growth QTL 1 qtl DOID:9002221 Hyperplasia IAGP D RGD:1578306|PMID:16434542 19990101 RGD 1578667 Bss21 Bone structure and strength QTL 21 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578668 Bmd14 Bone mineral density QTL 14 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578669 Bss9 Bone structure and strength QTL 9 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578670 Bss14 Bone structure and strength QTL 14 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578671 Bmd10 Bone mineral density QTL 10 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578672 Bmd16 Bone mineral density QTL 16 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578673 Bmd13 Bone mineral density QTL 13 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578674 Bmd12 Bone mineral density QTL 12 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578675 Bss17 Bone structure and strength QTL 17 qtl DOID:11476 osteoporosis IAGP D RGD:1578307|PMID:16461031 19990101 RGD 1578692 BN.LEW-(D10Rat32-D10Rat116)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578693 LEW.BN-(D10Mco17-D10Rat221)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578697 BN.LEW-(D10Rat32-D10Rat31)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578699 BG anemic Belgrade strain DOID:11759 hypochromic anemia IAGP D RGD:729808|PMID:9448300 19990101 RGD 1578702 LEW.BN-(D10Rat32-D10Rat133)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578704 WLP Warsaw Low Prefering strain DOID:1574 alcohol use disorder IAGP D RGD:1358540|PMID:15215567 19990101 RGD controls, compared to WHP rats 1578705 LEW.BN-(D10Arb4-D10Rat133)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578706 LEW.BN-(D10Mco17-D10Mco14)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578708 LEW.BN-(D10Mgh7-D10Rat221)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578709 IA incisor absent strain DOID:9003128 Ectopic Tooth Eruption IAGP D RGD:1578477|PMID:818350 19990101 RGD 1578710 LEW.1AR1-iddm/Ztm strain DOID:4195 hyperglycemia IAGP D RGD:1547853|PMID:16075370 19990101 RGD compared to LEW.1AR1/Ztm strain 1578710 LEW.1AR1-iddm/Ztm strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578710 LEW.1AR1-iddm/Ztm strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:11532657|PMID:26363782 20181206 RGD 1578710 LEW.1AR1-iddm/Ztm strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:41412198|PMID:11596676 20210223 RGD 1578711 LEW.BN-(D10Mco17-D10Rat133)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578712 BN.LEW-(D10Mco17-D10Mco14)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578714 BN.LEW-(D10Mco17-D10Rat80)/Ciml strain DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578715 ANT Alcohol-Nontolerant strain DOID:9004866 Ataxia induced IAGP XCO:0000325 D RGD:1578556|PMID:15082942 19990101 RGD compared to alcohol tolerant strain (AT) 1578716 LEW.1AR1/Ztm strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292|XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 1578716 LEW.1AR1/Ztm strain DOID:9744 type 1 diabetes mellitus no_association IAGP D RGD:11532657|PMID:26363782 20181206 RGD 1578717 WHP Warsaw High Prefering strain DOID:1574 alcohol use disorder IAGP D RGD:1358540|PMID:15215567 19990101 RGD compared to WLP and Wistar rats 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:2289687|PMID:15897688 20080207 RGD DNA:deletion 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:2154 nephroblastoma ISO RGD:737039 D RGD:2289679|PMID:17369505 20080206 RGD protein:increased expression:kidney 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737039 D RGD:2289686|PMID:16316628 20080206 RGD DNA:hypermethylation:promoter 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:737039 D RGD:2289677|PMID:17383681 20080206 RGD DNA:hypermethylation:promoter:breast, serum 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:3068 glioblastoma treatment ISO RGD:737039 D RGD:8552659|PMID:10720483 20140423 RGD 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:3304 germinoma ISO RGD:737039 D RGD:2289698|PMID:9554401 20080207 RGD DNA:transition:exon:142G>A 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:2289680|PMID:17201148 20080206 RGD DNA:deletion 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:2289699|PMID:15232742 20080207 RGD DNA:hypermethylation:promoter 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:11251765|PMID:17507663 20160624 RGD 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:10322 D RGD:11251741|PMID:16407836 20160624 RGD 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:1600816|PMID:16317707 20160624 RGD Protein:decreased expression:liver 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737039 D RGD:11251777|PMID:16533530 20160624 RGD 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:2289675|PMID:17910346 20080206 RGD protein:increased expression 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:2289676|PMID:17415114 20080206 RGD protein:increased expression:uterine cervix 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:2289679|PMID:17369505 20080206 RGD protein:increased expression:kidney 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:10322 D RGD:2289681|PMID:17178860 20080206 RGD DNA, mRNA, protein:hypermethylation, increased expression:exon, prostate 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737039 D RGD:2289685|PMID:16483154 20080206 RGD DNA:hypermethylation:promoter 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:737039 D RGD:2289684|PMID:16799475 20080206 RGD protein:increased expression:prostate gland 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:2289676|PMID:17415114 20080206 RGD protein:increased expression:uterine cervix 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:2289678|PMID:17369842 20080206 RGD 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:10322 D RGD:2289674|PMID:18060046 20080206 RGD 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:2289673|PMID:18192968 20080218 RGD associated with Papillomavirus Infections;protein:increased expression:vulva 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:2289682|PMID:16998595 20080206 RGD protein:increased expression:vulva 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737039 D RGD:2289683|PMID:16837908 20080206 RGD protein:increased expression:endometrium 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:2289690|PMID:8686738 20080207 RGD protein:decreased expression:breast 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:8552384|PMID:23712779 20140422 RGD DNA:hypermethylation:promoter 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737039 D RGD:11252080|PMID:11697625 20160624 RGD mRNA,protein:altered expression:bone marrow: 1578733 Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:11252082|PMID:25675863 20160624 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10322 D RGD:11251772|PMID:21622646 20160624 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:10322 D RGD:11251751|PMID:16618932 20160624 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737039 D RGD:2289686|PMID:16316628 20080206 RGD DNA:hypermethylation:promoter 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:737039 D RGD:2289677|PMID:17383681 20080206 RGD DNA:hypermethylation:promoter:breast, serum 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:3304 germinoma ISO RGD:737039 D RGD:2289698|PMID:9554401 20080207 RGD DNA:transition:exon:142G>A 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:2289680|PMID:17201148 20080206 RGD DNA:deletion 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:2289699|PMID:15232742 20080207 RGD DNA, protein:hypermethylation, increased expression:promoter, kidney 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:10322 D RGD:11251774|PMID:19759355 20160624 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:10322 D RGD:11251741|PMID:16407836 20160624 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737039 D RGD:11251777|PMID:16533530 20160624 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:737039 D RGD:2289684|PMID:16799475 20080206 RGD protein:increased expression:prostate gland 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:10322 D RGD:2289674|PMID:18060046 20080206 RGD 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:8552384|PMID:23712779 20140422 RGD DNA:hypermethylation:promoter 1578738 Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 gene DOID:9119 acute myeloid leukemia ISO RGD:737039 D RGD:11252080|PMID:11697625 20160624 RGD mRNA,protein:altered expression:bone marrow: 1578754 Stresp16 Stress response QTL 16 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578755 Pur5 Proteinuria QTL 5 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1578756 Iddm22 Insulin dependent diabetes mellitus QTL 22 qtl DOID:4195 hyperglycemia IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578756 Iddm22 Insulin dependent diabetes mellitus QTL 22 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578756 Iddm22 Insulin dependent diabetes mellitus QTL 22 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:1547853|PMID:16075370 20120926 RGD 1578757 Pur6 Proteinuria QTL 6 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1578758 Tcas9 Tongue tumor susceptibility QTL 9 qtl DOID:9005873 Tongue Neoplasms IAGP D RGD:634723|PMID:11429048 19990101 RGD 1578759 Uae30 Urinary albumin excretion QTL 30 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1578760 Cm53 Cardiac mass QTL 53 qtl DOID:576 proteinuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578760 Cm53 Cardiac mass QTL 53 qtl DOID:9001542 Albuminuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578761 Stresp21 Stress response QTL 21 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578762 Toxo1 Toxoplasma gondii resistance QTL 1 qtl DOID:9965 toxoplasmosis IAGP D RGD:1578521|PMID:16407112 19990101 RGD 1578763 Kidm29 Kidney mass QTL 29 qtl DOID:576 proteinuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578763 Kidm29 Kidney mass QTL 29 qtl DOID:9001542 Albuminuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578764 Stresp19 Stress response QTL 19 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578765 Klgr1 Kidney lesion grade QTL 1 qtl DOID:576 proteinuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578765 Klgr1 Kidney lesion grade QTL 1 qtl DOID:9001542 Albuminuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578766 Tcas11 Tongue tumor susceptibility QTL 11 qtl DOID:9005873 Tongue Neoplasms IAGP D RGD:1578522|PMID:16527513 19990101 RGD 1578767 Stresp17 Stress response QTL 17 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578768 Stresp22 Stress response QTL 22 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578769 Uae31 Urinary albumin excretion QTL 31 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1578770 Stresp23 Stress response QTL 23 qtl DOID:2030 anxiety disorder IDA D RGD:1578503|PMID:16239369 20130716 RGD 1578771 Stresp20 Stress response QTL 20 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578772 Stresp14 Stress response QTL 14 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578773 Iddm23 Insulin dependent diabetes mellitus QTL 23 qtl DOID:4195 hyperglycemia IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578773 Iddm23 Insulin dependent diabetes mellitus QTL 23 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578773 Iddm23 Insulin dependent diabetes mellitus QTL 23 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:1547853|PMID:16075370 20120926 RGD 1578774 Tcas8 Tongue tumor susceptibility QTL 8 qtl DOID:9005873 Tongue Neoplasms IAGP D RGD:634723|PMID:11429048 19990101 RGD 1578775 Iddm21 Insulin dependent diabetes mellitus QTL 21 qtl DOID:4195 hyperglycemia IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578775 Iddm21 Insulin dependent diabetes mellitus QTL 21 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:1547853|PMID:16075370 19990101 RGD 1578775 Iddm21 Insulin dependent diabetes mellitus QTL 21 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:1547853|PMID:16075370 20120926 RGD 1578776 Stresp18 Stress response QTL 18 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578777 Stresp15 Stress response QTL 15 qtl DOID:2030 anxiety disorder IDA D RGD:1549862|PMID:16151695 20130712 RGD 1578778 Pur4 Proteinuria QTL 4 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1578779 Tcas10 Tongue tumor susceptibility QTL 10 qtl DOID:9005873 Tongue Neoplasms IAGP D RGD:634723|PMID:11429048 19990101 RGD 1578780 Cm52 Cardiac mass QTL 52 qtl DOID:576 proteinuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578780 Cm52 Cardiac mass QTL 52 qtl DOID:9001542 Albuminuria IAGP D RGD:1578520|PMID:16534143 19990101 RGD 1578791 Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin gene DOID:14330 Parkinson's disease treatment IMP XCO:0000498, XCO:0000520 D RGD:40924655|PMID:29530712 20210304 RGD compared to wild-type and untreated 1578791 Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin gene DOID:784 chronic kidney disease disease_progression IMP D RGD:12910103|PMID:24722447 20190821 RGD 1578791 Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910103|PMID:24722447 20201210 RGD compared to FHH 1578791 Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin gene DOID:9001542 Albuminuria IMP D RGD:12910103|PMID:24722447 20201210 RGD compared to FHH 1578791 Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910103|PMID:24722447 20201210 RGD compared to FHH 1578791 Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin gene DOID:9008675 Dyskinesias treatment IMP XCO:0000498, XCO:0000520 D RGD:40924655|PMID:29530712 20210304 RGD compared to wild-type and untreated 1579693 T2DN/Mcwi strain DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:1303373|PMID:14988259 20070220 RGD 1579693 T2DN/Mcwi strain DOID:4195 hyperglycemia IAGP D RGD:1303373|PMID:14988259 20200303 RGD 1579693 T2DN/Mcwi strain DOID:576 proteinuria IAGP D RGD:1303373|PMID:14988259 20201028 RGD compared to GK/Far, BN/NHsdMcwi 1579693 T2DN/Mcwi strain DOID:9001542 Albuminuria IAGP D RGD:1303373|PMID:14988259 20210125 RGD 1579697 SS.SHR-(D13Rat63-D13Mit1)/Mco strain DOID:576 proteinuria IAGP D RGD:2314528|PMID:19176703 20091119 RGD 1579703 SS.SHR-(D2Rat61-D2Mco18)/Mco strain DOID:576 proteinuria IAGP D RGD:1625111|PMID:17504948 20191126 RGD 1579706 FHH-Nr4a1m1Mcwi strain DOID:14330 Parkinson's disease treatment IMP XCO:0000498, XCO:0000520 D RGD:40924655|PMID:29530712 20210210 RGD compared to wild-type and untreated 1579706 FHH-Nr4a1m1Mcwi strain DOID:784 chronic kidney disease disease_progression IMP D RGD:12910103|PMID:24722447 20190821 RGD 1579706 FHH-Nr4a1m1Mcwi strain DOID:9000808 Hypercholesterolemia IMP D RGD:12910103|PMID:24722447 20191206 RGD compared to FHH 1579706 FHH-Nr4a1m1Mcwi strain DOID:9001542 Albuminuria IMP D RGD:12910103|PMID:24722447 20190821 RGD compared to FHH 1579706 FHH-Nr4a1m1Mcwi strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12910103|PMID:24722447 20191206 RGD compared to FHH 1579706 FHH-Nr4a1m1Mcwi strain DOID:9008675 Dyskinesias treatment IMP XCO:0000498, XCO:0000520 D RGD:40924655|PMID:29530712 20210210 RGD compared to wild-type and untreated 1579710 GK/Far Goto-Kakizaki strain DOID:9001542 Albuminuria IAGP D RGD:1303373|PMID:14988259 20200303 RGD 1579710 GK/Far Goto-Kakizaki strain DOID:9352 type 2 diabetes mellitus IAGP D RGD:1303373|PMID:14988259 20200303 RGD 1579915 Bp280 Blood pressure QTL 280 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 1579916 Bp270 Blood pressure QTL 270 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 1579917 Bp282 Blood pressure QTL 282 qtl DOID:9006024 Hypotension IAGP D RGD:1559293|PMID:16286573 20080418 RGD 1579918 Bp279 Blood pressure QTL 279 qtl DOID:10763 hypertension IAGP D RGD:1559293|PMID:16286573 20080418 RGD 1579919 Bp281 Blood pressure QTL 281 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:0050770 polycystic liver disease MODEL: spontaneous IAGP D RGD:1580540|PMID:10803363 20061024 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:0050770 polycystic liver disease MODEL: spontaneous IAGP D RGD:628435|PMID:11135065 20191120 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:0080322 polycystic kidney disease MODEL: spontaneous IAGP D RGD:1580540|PMID:10803363 20061024 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:0080322 polycystic kidney disease MODEL: spontaneous IAGP D RGD:628435|PMID:11135065 20191120 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:0110861 autosomal recessive polycystic kidney disease MODEL: spontaneous IAGP D RGD:70439|PMID:11919560 20160923 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:2355 anemia IAGP D RGD:1580540|PMID:10803363 20061024 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:576 proteinuria IAGP D RGD:12910103|PMID:24722447 20191206 RGD compared to Crl:SD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:898 autosomal dominant polycystic kidney disease disease_progression IAGP D RGD:628435|PMID:11135065 20061024 RGD 1580542 PCK-Pkhd1pck/CrljCrl strain DOID:9000498 Emaciation IAGP D RGD:1580540|PMID:10803363 20061024 RGD 1581505 Rf54 Renal function QTL 54 qtl DOID:1073 renal hypertension IDA D RGD:1578407|PMID:16396943 20130715 RGD 1581550 Pur8 Proteinuria QTL 8 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1581554 Pur11 Proteinuria QTL 11 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 20130716 RGD 1581555 Eae19 Experimental allergic encephalomyelitis QTL 19 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:1549617|PMID:15716504 20121107 RGD 1581557 Eae16 Experimental allergic encephalomyelitis QTL 16 qtl DOID:2377 multiple sclerosis IAGP D RGD:629629|PMID:12517974 20121112 RGD 1581557 Eae16 Experimental allergic encephalomyelitis QTL 16 qtl DOID:9002079 Paresis IAGP D RGD:629629|PMID:12517974 20121112 RGD 1581557 Eae16 Experimental allergic encephalomyelitis QTL 16 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:629629|PMID:12517974 20121112 RGD 1581557 Eae16 Experimental allergic encephalomyelitis QTL 16 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:629629|PMID:12517974 20121114 RGD 1581559 Eae18 Experimental allergic encephalomyelitis QTL 18 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:1302800|PMID:11486278 20130702 RGD 1581561 Eae22 Experimental allergic encephalomyelitis QTL 22 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:1547849|PMID:15634914 20130711 RGD 1581563 Uae33 Urinary albumin excretion QTL 33 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 20130716 RGD 1581565 Pur10 Proteinuria QTL 10 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1581566 Eae21 Experimental allergic encephalomyelitis QTL 21 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:1547849|PMID:15634914 20130711 RGD 1581569 Uae32 Urinary albumin excretion QTL 32 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1581570 Eae17 Experimental allergic encephalomyelitis QTL 17 qtl DOID:2377 multiple sclerosis IAGP D RGD:629629|PMID:12517974 20121112 RGD 1581570 Eae17 Experimental allergic encephalomyelitis QTL 17 qtl DOID:9002079 Paresis IAGP D RGD:629629|PMID:12517974 20121112 RGD 1581570 Eae17 Experimental allergic encephalomyelitis QTL 17 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:629629|PMID:12517974 20121112 RGD 1581570 Eae17 Experimental allergic encephalomyelitis QTL 17 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:629629|PMID:12517974 20121114 RGD 1581572 Uae35 Urinary albumin excretion QTL 35 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 20130716 RGD 1581573 Uae36 Urinary albumin excretion QTL 36 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 20130716 RGD 1581574 Eae20 Experimental allergic encephalomyelitis QTL 20 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:1547849|PMID:15634914 20121107 RGD 1581576 Pur7 Proteinuria QTL 7 qtl DOID:576 proteinuria IDA D RGD:1578520|PMID:16534143 19990101 RGD 1581580 Uae34 Urinary albumin excretion QTL 34 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 20130716 RGD 1581618 SHRSP/Bbb strain DOID:10763 hypertension susceptibility IAGP D RGD:7771608|PMID:23901062 20201221 RGD compared to F344 1581618 SHRSP/Bbb strain DOID:576 proteinuria induced IAGP XCO:0000022, XCO:0000164, XCO:0000032, XCO:0000030 D RGD:2307158|PMID:16835352 20090520 RGD compared to SHRSR/Bbb 1581618 SHRSP/Bbb strain DOID:9004616 Left Ventricular Hypertrophy susceptibility IAGP D RGD:7771608|PMID:23901062 20201221 RGD compared to F344 1581618 SHRSP/Bbb strain DOID:9007096 Stroke MODEL: induced IAGP XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030 D RGD:2307158|PMID:16835352 20191211 RGD compared to SHRSR/Bbb 1581619 BN.PD-(D8Rat39-D8Rat35),SHR-(D2Mit4-D2Rat28),SHR-(D2Rat103-D2Rat107)/Cub strain DOID:10603 glucose intolerance IAGP D RGD:1580751|PMID:16822831 20061024 RGD 1581622 SD-Tg(Ubc-eGFP-RNAi:Dazl)17-9GarRrrc strain DOID:12336 male infertility IMP D RGD:1580353|PMID:16844779 20061024 RGD 1581623 LA/Humd low autotomy strain DOID:11446 sciatic neuropathy IAGP D RGD:1580220|PMID:2234999 20061024 RGD 1581623 LA/Humd low autotomy strain DOID:9004287 Phantom Limb IAGP D RGD:1580220|PMID:2234999 20061024 RGD 1581623 LA/Humd low autotomy strain DOID:9005968 Neuralgia MODEL:control IAGP D RGD:1580220|PMID:2234999 20061024 RGD compared to HA/Humd 1581640 HA/Humd high autotomy strain DOID:11446 sciatic neuropathy susceptibility IAGP D RGD:1580220|PMID:2234999 20061024 RGD 1581640 HA/Humd high autotomy strain DOID:9004287 Phantom Limb susceptibility IAGP D RGD:1580220|PMID:2234999 20061024 RGD 1581640 HA/Humd high autotomy strain DOID:9005968 Neuralgia susceptibility IAGP D RGD:1580220|PMID:2234999 20061024 RGD compared to LA/Humd 1581645 LL/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:13513906|PMID:16882881 20200227 RGD compared to LH/Mav strain 1581645 LL/Mav strain DOID:9004616 Left Ventricular Hypertrophy MODEL: control IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared to LH/Mav 1581645 LL/Mav strain DOID:9351 diabetes mellitus MODEL: control IAGP D RGD:13441562|PMID:18443571 20191126 RGD compared to LH/Mav 1582186 FHH.FHH.1BN-(D1Rat183-D1Rat76)/Mcwi strain DOID:0050851 glomerulosclerosis IAGP D RGD:1579884|PMID:16303858 20200117 RGD 1582190 SS/JrHsd Dahl Salt-Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:8657131|PMID:23442991 20210113 RGD compared to Lewis and congenic strains 1582190 SS/JrHsd Dahl Salt-Sensitive strain DOID:9003631 Diastolic Dysfunction MODEL: induced IAGP XCO:0000022 D RGD:8657131|PMID:23442991 20210113 RGD compared to Lewis and congenic strains 1582190 SS/JrHsd Dahl Salt-Sensitive strain DOID:9004616 Left Ventricular Hypertrophy MODEL: induced IAGP XCO:0000022 D RGD:8657131|PMID:23442991 20210113 RGD compared to Lewis and congenic strains 1582196 FHH.FHH.1BN-(D1Rat234-D1Rat265)/Mcwi strain DOID:0050851 glomerulosclerosis IAGP D RGD:1579884|PMID:16303858 20200117 RGD 1582197 Gluco27 Glucose level QTL 27 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582197 Gluco27 Glucose level QTL 27 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582199 Insul5 Insulin level QTL 5 qtl DOID:2018 hyperinsulinism TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582199 Insul5 Insulin level QTL 5 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582201 Sffal2 Serum free fatty acids level QTL 2 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20130726 RGD 1582203 Gluco19 Glucose level QTL 19 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582203 Gluco19 Glucose level QTL 19 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582204 Livw1 Liver weight QTL 1 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582206 Kidm33 Kidney mass QTL 33 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582208 Kidm32 Kidney mass QTL 32 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582209 Gluco20 Glucose level QTL 20 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582209 Gluco20 Glucose level QTL 20 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582210 Bw71 Body weight QTL 71 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582210 Bw71 Body weight QTL 71 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582212 Livw2 Liver weight QTL 2 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582213 Insul6 Insulin level QTL 6 qtl DOID:2018 hyperinsulinism TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582213 Insul6 Insulin level QTL 6 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582214 Stl21 Serum triglyceride level QTL 21 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582216 Bw65 Body weight QTL 65 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582216 Bw65 Body weight QTL 65 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582218 Bw74 Body weight QTL 74 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582218 Bw74 Body weight QTL 74 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582219 Bw63 Body weight QTL 63 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582219 Bw63 Body weight QTL 63 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582221 Kidm30 Kidney mass QTL 30 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582222 Epfw2 Epididymal fat weight QTL 2 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582224 Epfw4 Epididymal fat weight QTL 4 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582225 Bw67 Body weight QTL 67 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582225 Bw67 Body weight QTL 67 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582226 Bw64 Body weight QTL 64 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582226 Bw64 Body weight QTL 64 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582227 Gluco30 Glucose level QTL 30 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582227 Gluco30 Glucose level QTL 30 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582228 Epfw3 Epididymal fat weight QTL 3 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582229 Stl20 Serum triglyceride level QTL 20 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582230 Bw78 Body weight QTL 78 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582230 Bw78 Body weight QTL 78 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582232 Gluco25 Glucose level QTL 25 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582232 Gluco25 Glucose level QTL 25 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582233 Insul10 Insulin level QTL 10 qtl DOID:2018 hyperinsulinism TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582233 Insul10 Insulin level QTL 10 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582234 Gluco18 Glucose level QTL 18 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582234 Gluco18 Glucose level QTL 18 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582235 Insul8 Insulin level QTL 8 qtl DOID:2018 hyperinsulinism TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582235 Insul8 Insulin level QTL 8 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582236 Gluco22 Glucose level QTL 22 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582236 Gluco22 Glucose level QTL 22 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582237 Kidm34 Kidney mass QTL 34 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582238 Bw68 Body weight QTL 68 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582238 Bw68 Body weight QTL 68 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582239 Epfw1 Epididymal fat weight QTL 1 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582240 Sffal1 Serum free fatty acids level QTL 1 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20130726 RGD 1582241 Bw70 Body weight QTL 70 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582241 Bw70 Body weight QTL 70 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582242 Gluco28 Glucose level QTL 28 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582242 Gluco28 Glucose level QTL 28 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582243 Bw66 Body weight QTL 66 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582243 Bw66 Body weight QTL 66 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582244 Bw79 Body weight QTL 79 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582244 Bw79 Body weight QTL 79 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582245 Bw73 Body weight QTL 73 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582245 Bw73 Body weight QTL 73 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582246 Cm60 Cardiac mass QTL 60 qtl DOID:9003936 Cardiomegaly IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582246 Cm60 Cardiac mass QTL 60 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582248 Insul7 Insulin level QTL 7 qtl DOID:2018 hyperinsulinism TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582248 Insul7 Insulin level QTL 7 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582249 Bw77 Body weight QTL 77 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582249 Bw77 Body weight QTL 77 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582250 Gluco26 Glucose level QTL 26 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582250 Gluco26 Glucose level QTL 26 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582251 Gluco24 Glucose level QTL 24 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582251 Gluco24 Glucose level QTL 24 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582252 Sual1 Serum uric acid level QTL 1 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582254 Kidm31 Kidney mass QTL 31 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582255 Gluco29 Glucose level QTL 29 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582255 Gluco29 Glucose level QTL 29 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582256 Insul9 Insulin level QTL 9 qtl DOID:2018 hyperinsulinism TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582256 Insul9 Insulin level QTL 9 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582257 Gluco21 Glucose level QTL 21 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582257 Gluco21 Glucose level QTL 21 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582258 Bw76 Body weight QTL 76 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582258 Bw76 Body weight QTL 76 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582259 Gluco23 Glucose level QTL 23 qtl DOID:4195 hyperglycemia TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582259 Gluco23 Glucose level QTL 23 qtl DOID:9006646 Metabolic Syndrome IDA D RGD:1580752|PMID:15728334 20061103 RGD 1582260 Bw72 Body weight QTL 72 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582260 Bw72 Body weight QTL 72 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582261 Bw69 Body weight QTL 69 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582261 Bw69 Body weight QTL 69 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582262 Bw75 Body weight QTL 75 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:1580752|PMID:15728334 20061103 RGD 1582262 Bw75 Body weight QTL 75 qtl DOID:9970 obesity IAGP D RGD:1580752|PMID:15728334 20061103 RGD 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:1826 epilepsy ISO RGD:1317694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33944996 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:630 genetic disease ISO RGD:1317694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1317694 D RGD:11537550|PMID:26517514 20210412 RGD mRNA:decreased expression:liver 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:769 neuroblastoma ISO RGD:1317694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9002801 Recurrence ISO RGD:1317694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:7240710 20221116 OMIM 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome PMID:25741868|PMID:33944996 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317694 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33944996 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9006186 Harel-Yoon Syndrome ISO RGD:1317694 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1317694 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33944996 1582725 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 1582742 Ubap1l ubiquitin associated protein 1-like gene DOID:0110935 nemaline myopathy 6 ISO RGD:5476950 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1582742 Ubap1l ubiquitin associated protein 1-like gene DOID:2717 Bloom syndrome ISO RGD:5476950 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1582742 Ubap1l ubiquitin associated protein 1-like gene DOID:630 genetic disease ISO RGD:5476950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582742 Ubap1l ubiquitin associated protein 1-like gene DOID:9256 colorectal cancer ISO RGD:5476950 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1582758 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:0081002 Cowden syndrome 6 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:28492532 1582758 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1582758 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1582758 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:630 genetic disease ISO RGD:2290506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582758 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:7240710 20170503 OMIM 1582758 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 PMID:25055871|PMID:25741868 1582771 Katnbl1 katanin regulatory subunit B1 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1314664 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1582771 Katnbl1 katanin regulatory subunit B1 like 1 gene DOID:630 genetic disease ISO RGD:1314664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582771 Katnbl1 katanin regulatory subunit B1 like 1 gene DOID:9256 colorectal cancer ISO RGD:1314664 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:1350307 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24480542|PMID:29255062 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:0111510 Marshall syndrome ISO RGD:1350307 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:12849 autistic disorder ISO RGD:1350307 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:1826 epilepsy ISO RGD:1350307 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:630 genetic disease ISO RGD:1350307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:7240710 20190315 OMIM 1582776 Rnpc3 RNA-binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 PMID:24480542|PMID:25741868|PMID:29255062|PMID:32462814|PMID:33650182 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:7240710 20180418 OMIM 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17507419|PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1353461 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1353461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:2717 Bloom syndrome ISO RGD:1353461 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1353461 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:24033266|PMID:25741868|PMID:28492532 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1353461 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1353461 D RGD:8554872 20170131 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353461 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 1582780 Nop10 NOP10 ribonucleoprotein gene DOID:9256 colorectal cancer ISO RGD:1353461 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1582781 Lilra5 leukocyte immunoglobulin like receptor A5 gene DOID:630 genetic disease ISO RGD:1601693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582781 Lilra5 leukocyte immunoglobulin like receptor A5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1601693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1582797 Megf11 multiple EGF-like-domains 11 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1603600 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1582797 Megf11 multiple EGF-like-domains 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1582797 Megf11 multiple EGF-like-domains 11 gene DOID:2717 Bloom syndrome ISO RGD:1603600 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1582797 Megf11 multiple EGF-like-domains 11 gene DOID:630 genetic disease ISO RGD:1603600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582797 Megf11 multiple EGF-like-domains 11 gene DOID:9256 colorectal cancer ISO RGD:1603600 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1582798 Il17c interleukin 17C gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1582798 Il17c interleukin 17C gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351651 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1582798 Il17c interleukin 17C gene DOID:14780 KBG syndrome ISO RGD:1351651 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1582798 Il17c interleukin 17C gene DOID:630 genetic disease ISO RGD:1351651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582798 Il17c interleukin 17C gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351651 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:7240710 20140903 OMIM 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:24397319|PMID:25741868|PMID:25887401|PMID:28492532|PMID:9536098 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:1289 neurodegenerative disease ISO RGD:1353382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:5223 infertility ISO RGD:1353382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21278747|PMID:25741868|PMID:25887401|PMID:28492532 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:863 nervous system disease ISO RGD:1353382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 1582808 Ttc19 tetratricopeptide repeat domain 19 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1353382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 1582810 Zfpm1 zinc finger protein, multitype 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1582810 Zfpm1 zinc finger protein, multitype 1 gene DOID:0080600 COVID-19 ISO RGD:1314245 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1582810 Zfpm1 zinc finger protein, multitype 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1582810 Zfpm1 zinc finger protein, multitype 1 gene DOID:14780 KBG syndrome ISO RGD:1314245 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1582810 Zfpm1 zinc finger protein, multitype 1 gene DOID:630 genetic disease ISO RGD:1314245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582810 Zfpm1 zinc finger protein, multitype 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1314245 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1313202 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:0080690 RASopathy ISO RGD:1313202 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24033266|PMID:25741868|PMID:28492532 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:1909 melanoma ISO RGD:1313202 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22197931 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:2717 Bloom syndrome ISO RGD:1313202 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:2843 long QT syndrome ISO RGD:1313202 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:3490 Noonan syndrome ISO RGD:1313202 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:630 genetic disease ISO RGD:1313202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1582813 Snapc5 small nuclear RNA activating complex, polypeptide 5 gene DOID:9256 colorectal cancer ISO RGD:1313202 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1582817 Pwp2 PWP2, small subunit processome component gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 1582817 Pwp2 PWP2, small subunit processome component gene DOID:0110266 cataract 9 multiple types ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1582817 Pwp2 PWP2, small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1317740 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1582817 Pwp2 PWP2, small subunit processome component gene DOID:630 genetic disease ISO RGD:1317740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582817 Pwp2 PWP2, small subunit processome component gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317740 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1582817 Pwp2 PWP2, small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317740 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1582817 Pwp2 PWP2, small subunit processome component gene DOID:9263 homocystinuria ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1582817 Pwp2 PWP2, small subunit processome component gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1582820 Tmem169 transmembrane protein 169 gene DOID:630 genetic disease ISO RGD:1602990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582820 Tmem169 transmembrane protein 169 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602990 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1582826 Dnah14 dynein axonemal heavy chain 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1350731 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1582826 Dnah14 dynein axonemal heavy chain 14 gene DOID:630 genetic disease ISO RGD:1350731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582826 Dnah14 dynein axonemal heavy chain 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350731 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1582826 Dnah14 dynein axonemal heavy chain 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1350731 D RGD:8554872 20161025 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 1582826 Dnah14 dynein axonemal heavy chain 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350731 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1582828 Hlf HLF transcription factor, PAR bZIP family member gene DOID:10283 prostate cancer ISO RGD:1347027 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1582828 Hlf HLF transcription factor, PAR bZIP family member gene DOID:10534 stomach cancer severity ISO RGD:1347027 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 1582828 Hlf HLF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1347027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582828 Hlf HLF transcription factor, PAR bZIP family member gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347027 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 1582829 Tmem223 transmembrane protein 223 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2303656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1582829 Tmem223 transmembrane protein 223 gene DOID:1059 intellectual disability ISO RGD:2303656 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1582829 Tmem223 transmembrane protein 223 gene DOID:630 genetic disease ISO RGD:2303656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582830 C1h2orf78 similar to human chromosome 2 open reading frame 78 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2298835 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1582830 C1h2orf78 similar to human chromosome 2 open reading frame 78 gene DOID:543 dystonia ISO RGD:2298835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1582830 C1h2orf78 similar to human chromosome 2 open reading frame 78 gene DOID:630 genetic disease ISO RGD:2298835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582830 C1h2orf78 similar to human chromosome 2 open reading frame 78 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2298835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1582832 Tex28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1582832 Tex28 testis expressed 28 gene DOID:0050476 Barth syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1582832 Tex28 testis expressed 28 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1582832 Tex28 testis expressed 28 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1582832 Tex28 testis expressed 28 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342529 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1582832 Tex28 testis expressed 28 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1582832 Tex28 testis expressed 28 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1582832 Tex28 testis expressed 28 gene DOID:12849 autistic disorder ISO RGD:1342529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1582832 Tex28 testis expressed 28 gene DOID:13628 favism ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:2729 dyskeratosis congenita ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:607 paraplegia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1582832 Tex28 testis expressed 28 gene DOID:9002720 Splenomegaly ISO RGD:1342529 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1582832 Tex28 testis expressed 28 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 1582832 Tex28 testis expressed 28 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 1582850 Tmem179b transmembrane protein 179B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1582850 Tmem179b transmembrane protein 179B gene DOID:1059 intellectual disability ISO RGD:1601691 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1582850 Tmem179b transmembrane protein 179B gene DOID:630 genetic disease ISO RGD:1601691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582851 Yaf2 YY1 associated factor 2 gene DOID:13938 amenorrhea ISO RGD:1314010 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1582851 Yaf2 YY1 associated factor 2 gene DOID:630 genetic disease ISO RGD:1314010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:0111027 hemochromatosis type 2A ISO RGD:1353647 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1353647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:1540 parathyroid carcinoma ISO RGD:1353647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:5419 schizophrenia ISO RGD:1353647 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:630 genetic disease ISO RGD:1353647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:7240710 20210421 OMIM 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay PMID:31089205|PMID:31695177 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:9007661 Dwarfism ISO RGD:1353647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Short stature PMID:31089205 1582857 Polr3gl RNA polymerase III subunit GL gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353647 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1582858 Prelid3a PRELI domain containing 3A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1315398 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1582858 Prelid3a PRELI domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1315398 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1582858 Prelid3a PRELI domain containing 3A gene DOID:543 dystonia ISO RGD:1315398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1582858 Prelid3a PRELI domain containing 3A gene DOID:630 genetic disease ISO RGD:1315398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582859 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343893 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1582859 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:289 endometriosis ISO RGD:1343893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 1582859 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:630 genetic disease ISO RGD:1343893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582859 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343893 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1582881 Wdr74 WD repeat domain 74 gene DOID:0080600 COVID-19 ISO RGD:1603395 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1582881 Wdr74 WD repeat domain 74 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1582881 Wdr74 WD repeat domain 74 gene DOID:1059 intellectual disability ISO RGD:1603395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1582881 Wdr74 WD repeat domain 74 gene DOID:14566 disease of cellular proliferation ISO RGD:1603395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 1582881 Wdr74 WD repeat domain 74 gene DOID:1909 melanoma ISO RGD:1603395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1582881 Wdr74 WD repeat domain 74 gene DOID:630 genetic disease ISO RGD:1603395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582892 Pcnx4 pecanex 4 gene DOID:630 genetic disease ISO RGD:1348042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582894 Pdf peptide deformylase (mitochondrial) gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1582894 Pdf peptide deformylase (mitochondrial) gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1605961 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: COG8-CDG PMID:25741868 1582894 Pdf peptide deformylase (mitochondrial) gene DOID:5212 congenital disorder of glycosylation ISO RGD:1605961 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 1582894 Pdf peptide deformylase (mitochondrial) gene DOID:630 genetic disease ISO RGD:1605961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582896 Slc16a5 solute carrier family 16 member 5 gene DOID:630 genetic disease ISO RGD:1351583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582897 Dip2a disco-interacting protein 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1319135 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1582897 Dip2a disco-interacting protein 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1319135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1582897 Dip2a disco-interacting protein 2 homolog A gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1319135 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1582897 Dip2a disco-interacting protein 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1319135 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1582897 Dip2a disco-interacting protein 2 homolog A gene DOID:2843 long QT syndrome ISO RGD:1319135 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1582897 Dip2a disco-interacting protein 2 homolog A gene DOID:630 genetic disease ISO RGD:1319135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1582908 Hoxd9 homeo box D9 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1354432 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1582908 Hoxd9 homeo box D9 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1354432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 1582908 Hoxd9 homeo box D9 gene DOID:630 genetic disease ISO RGD:1354432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582908 Hoxd9 homeo box D9 gene DOID:684 hepatocellular carcinoma ISO RGD:1354432 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1582908 Hoxd9 homeo box D9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 1582908 Hoxd9 homeo box D9 gene DOID:9008192 Neoplastic Processes ISO RGD:1354432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 1582908 Hoxd9 homeo box D9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 1582911 Kcnk16 potassium two pore domain channel subfamily K member 16 gene DOID:630 genetic disease ISO RGD:1319410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582911 Kcnk16 potassium two pore domain channel subfamily K member 16 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319410 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:7240710 20160113 OMIM 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS PMID:16199547|PMID:17455289|PMID:17576681|PMID:18414213|PMID:22606975|PMID:22638565|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30776697|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31216804|PMID:31965297|PMID:32412666|PMID:32581362|PMID:34866617|PMID:9536098 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:22748208|PMID:25741868|PMID:25976102|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:14755 argininosuccinic aciduria ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:1826 epilepsy ISO RGD:1314738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314738 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:630 genetic disease ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:30919572|PMID:31130284|PMID:32412666|PMID:32581362 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314738 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy 1582914 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1314738 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532|PMID:30295347|PMID:32581362 1582917 Trnp1 TMF1-regulated nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1601688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582935 Gypa glycophorin A gene DOID:12365 malaria ISO RGD:1342753 D RGD:7240710 20230505 OMIM 1582935 Gypa glycophorin A gene DOID:630 genetic disease ISO RGD:1342753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582935 Gypa glycophorin A gene DOID:9004464 Skin Neoplasms ISO RGD:1342753 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:17029826 1582941 Borcs8 BLOC-1 related complex subunit 8 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:5131351 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1582941 Borcs8 BLOC-1 related complex subunit 8 gene DOID:630 genetic disease ISO RGD:5131351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582941 Borcs8 BLOC-1 related complex subunit 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:5131351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1582956 Cd209c CD209c molecule gene DOID:0080599 Coronavirus infectious disease ISO RGD:1320216 D RGD:5131184|PMID:20864747 20110422 RGD 1582956 Cd209c CD209c molecule gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1320216 D RGD:5131185|PMID:20050784 20110422 RGD 1582956 Cd209c CD209c molecule gene DOID:2841 asthma ISO RGD:1320216 D RGD:5131188|PMID:21471959 20110422 RGD 1582956 Cd209c CD209c molecule gene DOID:399 tuberculosis ISO RGD:1320216 D RGD:5131181|PMID:21454357 20110422 RGD 1582956 Cd209c CD209c molecule gene DOID:399 tuberculosis ISO RGD:1320216 D RGD:5131186|PMID:18167547 20110422 RGD 1582956 Cd209c CD209c molecule gene DOID:6432 pulmonary hypertension ISO RGD:1320216 D RGD:5131187|PMID:17107989 20110422 RGD 1582956 Cd209c CD209c molecule gene DOID:9001488 Human Influenza susceptibility ISO RGD:1320216 D RGD:5131189|PMID:21191006 20110422 RGD 1582968 Ccdc149 coiled-coil domain containing 149 gene DOID:630 genetic disease ISO RGD:1606995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0050646 distal arthrogryposis ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345467 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13 PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:11152147|PMID:24726473|PMID:25741868|PMID:27714920|PMID:27974811|PMID:31680123|PMID:8423615 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:7240710 20141015 OMIM 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon syndrome PMID:11152147|PMID:24726473|PMID:25741868|PMID:27653382|PMID:27714920|PMID:27843126|PMID:28492532|PMID:30285720|PMID:31680123|PMID:8423615 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:7240710 20141015 OMIM 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome PMID:11152147|PMID:15103714|PMID:1941966|PMID:23487782|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:32860008|PMID:32901917|PMID:8423615|PMID:8533802 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:1059 intellectual disability ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:12849 autistic disorder ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:1969 cerebral palsy ISO RGD:1345467 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:423 myopathy ISO RGD:1345467 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:5419 schizophrenia ISO RGD:1345467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:543 dystonia ISO RGD:1345467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:630 genetic disease ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11152147|PMID:15103714|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:8423615 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:7240710 20141015 OMIM 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marden-Walker syndrome PMID:24726473|PMID:25741868|PMID:28492532 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9001276 Failure to Thrive ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:7240710 20190315 OMIM 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch PMID:11152147|PMID:24726473|PMID:25741868|PMID:27607563|PMID:27653382|PMID:27714920|PMID:27843126|PMID:27974811|PMID:28492532|PMID:31680123|PMID:8423615 1582973 Piezo2 piezo-type mechanosensitive ion channel component 2 gene DOID:9006836 Contracture ISO RGD:1345467 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Contractures 1582992 Cmya5 cardiomyopathy associated 5 gene DOID:630 genetic disease ISO RGD:1321357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582992 Cmya5 cardiomyopathy associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321357 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1582994 Dcun1d2 defective in cullin neddylation 1 domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1323358 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1582994 Dcun1d2 defective in cullin neddylation 1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1323358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1582994 Dcun1d2 defective in cullin neddylation 1 domain containing 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1323358 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1582995 Mrps16 mitochondrial ribosomal protein S16 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321233 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1582995 Mrps16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:7240710 20130221 OMIM 1582995 Mrps16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 PMID:15505824|PMID:18539099|PMID:25741868|PMID:28492532|PMID:28749478 1582995 Mrps16 mitochondrial ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:1321233 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1583002 Mtx3 metaxin 3 gene DOID:630 genetic disease ISO RGD:1601695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583002 Mtx3 metaxin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601695 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583004 Nme5 NME/NM23 family member 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343010 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1583004 Nme5 NME/NM23 family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583004 Nme5 NME/NM23 family member 5 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1583004 Nme5 NME/NM23 family member 5 gene DOID:10908 hydrocephalus ISS RGD:1623132 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1583004 Nme5 NME/NM23 family member 5 gene DOID:630 genetic disease ISO RGD:1343010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583004 Nme5 NME/NM23 family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343010 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583004 Nme5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:7240710 20220921 OMIM 1583004 Nme5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus PMID:25741868|PMID:32185794|PMID:32950024 1583004 Nme5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1583004 Nme5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583011 Stambpl1 STAM binding protein-like 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603015 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 1583011 Stambpl1 STAM binding protein-like 1 gene DOID:630 genetic disease ISO RGD:1603015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583011 Stambpl1 STAM binding protein-like 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 1583074 Ube3b ubiquitin protein ligase E3B gene DOID:0050452 mevalonic aciduria ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:28492532 1583074 Ube3b ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28003368 1583074 Ube3b ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:7240710 20171011 OMIM 1583074 Ube3b ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type PMID:14556252|PMID:16199547|PMID:1694631|PMID:17576681|PMID:23200864|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 1583074 Ube3b ubiquitin protein ligase E3B gene DOID:630 genetic disease ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1605520 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605520 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1605520 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:25741868 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:12849 autistic disorder ISO RGD:1605520 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:630 genetic disease ISO RGD:1605520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605520 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605520 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:9263 homocystinuria ISO RGD:1605520 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1583076 Krtap10-1 keratin associated protein 10-1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1583091 Morn3 MORN repeat containing 3 gene DOID:630 genetic disease ISO RGD:1603521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583112 Pradc1 protease-associated domain containing 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1352558 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1583112 Pradc1 protease-associated domain containing 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1352558 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1583112 Pradc1 protease-associated domain containing 1 gene DOID:543 dystonia ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1583112 Pradc1 protease-associated domain containing 1 gene DOID:630 genetic disease ISO RGD:1352558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583112 Pradc1 protease-associated domain containing 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1346107 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1346107 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1346107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0081013 severe COVID-19 ISO RGD:1346107 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:7240710 20230510 OMIM 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 45 PMID:16757563|PMID:17576681|PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576|PMID:35442417|PMID:9536098 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:7240710 20230510 OMIM 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:25741868|PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1346107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1583177 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1346107 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1583180 Trip6 thyroid hormone receptor interactor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353366 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1583180 Trip6 thyroid hormone receptor interactor 6 gene DOID:630 genetic disease ISO RGD:1353366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583193 Ephb4 EPH receptor B4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 1583193 Ephb4 EPH receptor B4 gene DOID:0070212 hereditary lymphedema I ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 1583193 Ephb4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:7240710 20190315 OMIM 1583193 Ephb4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:29905864|PMID:30578106|PMID:32267001|PMID:33240318 1583193 Ephb4 EPH receptor B4 gene DOID:10316 pneumoconiosis ISO RGD:1353692 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1583193 Ephb4 EPH receptor B4 gene DOID:11294 arteriovenous malformation ISO RGD:1353692 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:25741868|PMID:28687708|PMID:30578106|PMID:30760892 1583193 Ephb4 EPH receptor B4 gene DOID:162 cancer ISO RGD:1353692 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cancer 1583193 Ephb4 EPH receptor B4 gene DOID:264 hemangiopericytoma ISO RGD:1353692 D RGD:155663351|PMID:26951238 20221110 RGD mRNA,protein:decreased expression:anterior temporal lobe 1583193 Ephb4 EPH receptor B4 gene DOID:2975 cystic kidney disease ISS RGD:1617630 D RGD:13592920 20180518 MouseDO 1583193 Ephb4 EPH receptor B4 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1353692 D RGD:153300949|PMID:31885720 20220808 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) 1583193 Ephb4 EPH receptor B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353692 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1583193 Ephb4 EPH receptor B4 gene DOID:630 genetic disease ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1583193 Ephb4 EPH receptor B4 gene DOID:6419 tetralogy of Fallot ISO RGD:1353692 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 1583193 Ephb4 EPH receptor B4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1353692 D RGD:155646133|PMID:23870033 20221108 RGD mRNA:decreased expression:liver 1583193 Ephb4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:7240710 20190315 OMIM 1583193 Ephb4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:16199547|PMID:21348050|PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:28730721|PMID:29444212|PMID:29905864|PMID:30578106|PMID:30760892|PMID:30819650 1583193 Ephb4 EPH receptor B4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment IEP D RGD:155663663|PMID:26670826 20221201 RGD 1583193 Ephb4 EPH receptor B4 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1353692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 1583193 Ephb4 EPH receptor B4 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1353692 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:25741868 1583193 Ephb4 EPH receptor B4 gene DOID:9007096 Stroke ISO RGD:1353692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 1583193 Ephb4 EPH receptor B4 gene DOID:9008939 Breast Neoplasms ISO RGD:1353692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 1583204 Meiob meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:7240710 20190315 OMIM 1583204 Meiob meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 22 PMID:28206990 1583204 Meiob meiosis specific with OB-fold gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1583204 Meiob meiosis specific with OB-fold gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1583204 Meiob meiosis specific with OB-fold gene DOID:14227 azoospermia ISO RGD:1604193 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1583204 Meiob meiosis specific with OB-fold gene DOID:1826 epilepsy ISO RGD:1604193 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1583204 Meiob meiosis specific with OB-fold gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604193 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1583204 Meiob meiosis specific with OB-fold gene DOID:630 genetic disease ISO RGD:1604193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583215 She Src homology 2 domain containing E gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1583215 She Src homology 2 domain containing E gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 1583215 She Src homology 2 domain containing E gene DOID:0111940 immunodeficiency 42 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1583215 She Src homology 2 domain containing E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1583215 She Src homology 2 domain containing E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1583215 She Src homology 2 domain containing E gene DOID:1540 parathyroid carcinoma ISO RGD:1605584 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1583215 She Src homology 2 domain containing E gene DOID:5812 MHC class II deficiency ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1583215 She Src homology 2 domain containing E gene DOID:630 genetic disease ISO RGD:1605584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583215 She Src homology 2 domain containing E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605584 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1583221 Zfp318 zinc finger protein 318 gene DOID:0050444 infantile Refsum disease ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1583221 Zfp318 zinc finger protein 318 gene DOID:630 genetic disease ISO RGD:1318587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583221 Zfp318 zinc finger protein 318 gene DOID:905 Zellweger syndrome ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1583222 Slc22a13l1 solute carrier family 22 member 13-like 1 gene DOID:0050451 Brugada syndrome ISO RGD:1315683 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 1583222 Slc22a13l1 solute carrier family 22 member 13-like 1 gene DOID:630 genetic disease ISO RGD:1315683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583222 Slc22a13l1 solute carrier family 22 member 13-like 1 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 1583222 Slc22a13l1 solute carrier family 22 member 13-like 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315683 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1583224 Sys1 Sys1 golgi trafficking protein gene DOID:2234 focal epilepsy ISO RGD:1602841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1583224 Sys1 Sys1 golgi trafficking protein gene DOID:2377 multiple sclerosis ISO RGD:1602841 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1583224 Sys1 Sys1 golgi trafficking protein gene DOID:630 genetic disease ISO RGD:1602841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583224 Sys1 Sys1 golgi trafficking protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1602841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1583226 Pgm2l1 phosphoglucomutase 2-like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1583226 Pgm2l1 phosphoglucomutase 2-like 1 gene DOID:1059 intellectual disability ISO RGD:1316099 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1583226 Pgm2l1 phosphoglucomutase 2-like 1 gene DOID:630 genetic disease ISO RGD:1316099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583226 Pgm2l1 phosphoglucomutase 2-like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:7240710 20230125 OMIM 1583226 Pgm2l1 phosphoglucomutase 2-like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities PMID:33979636 1583230 Rarg retinoic acid receptor, gamma gene DOID:0060673 Peters anomaly ISO RGD:735465 D RGD:8554872 20170221 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 1583230 Rarg retinoic acid receptor, gamma gene DOID:114 heart disease ISO RGD:735465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 1583230 Rarg retinoic acid receptor, gamma gene DOID:630 genetic disease ISO RGD:735465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583230 Rarg retinoic acid receptor, gamma gene DOID:674 cleft palate ISO RGD:735465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21807577 1583230 Rarg retinoic acid receptor, gamma gene DOID:9002371 Cardiotoxicity ISO RGD:735465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 1583230 Rarg retinoic acid receptor, gamma gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:735465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9142499 1583235 Gbp7 guanylate binding protein 7 gene DOID:630 genetic disease ISO RGD:1601687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583243 Msrb1 methionine sulfoxide reductase B1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1583243 Msrb1 methionine sulfoxide reductase B1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1583243 Msrb1 methionine sulfoxide reductase B1 gene DOID:1826 epilepsy ISO RGD:1312916 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1583243 Msrb1 methionine sulfoxide reductase B1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312916 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1583243 Msrb1 methionine sulfoxide reductase B1 gene DOID:630 genetic disease ISO RGD:1312916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583255 Erich4 glutamate-rich 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1583255 Erich4 glutamate-rich 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1583255 Erich4 glutamate-rich 4 gene DOID:2340 craniosynostosis ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1583255 Erich4 glutamate-rich 4 gene DOID:630 genetic disease ISO RGD:2299179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583255 Erich4 glutamate-rich 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1583255 Erich4 glutamate-rich 4 gene DOID:9269 maple syrup urine disease ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1583256 Abracl ABRA C-terminal like gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1583256 Abracl ABRA C-terminal like gene DOID:630 genetic disease ISO RGD:1351168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583270 Anapc13 anaphase promoting complex subunit 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346286 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1583288 Rnf169 ring finger protein 169 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602283 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1583288 Rnf169 ring finger protein 169 gene DOID:1059 intellectual disability ISO RGD:1602283 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1583288 Rnf169 ring finger protein 169 gene DOID:630 genetic disease ISO RGD:1602283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583290 Unc93a unc-93 homolog A gene DOID:630 genetic disease ISO RGD:1343732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583296 Cnpy1 canopy FGF signaling regulator 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 1583296 Cnpy1 canopy FGF signaling regulator 1 gene DOID:12849 autistic disorder ISO RGD:1603862 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583296 Cnpy1 canopy FGF signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1603862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:1793 pancreatic cancer severity ISO RGD:1344433 D RGD:2317785|PMID:17696949 20100423 RGD protein:increased expression:pancreas 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1344433 D RGD:2317790|PMID:12109856 20100423 RGD protein:increased expression:pancreas 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:4608 common bile duct neoplasm ISO RGD:1344433 D RGD:2317789|PMID:15136764 20100423 RGD mRNA, protein:increased expression: : 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344433 D RGD:2317780|PMID:19721413 20100423 RGD protein:increased expression:bile ducts 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:630 genetic disease ISO RGD:1344433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:1344433 D RGD:2317784|PMID:19259612 20100423 RGD 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344433 D RGD:2317788|PMID:15626919 20100423 RGD associated with Pancreatic Neoplasms 1583309 Fscn1 fascin actin-bundling protein 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1344433 D RGD:2317786|PMID:17419223 20100423 RGD protein:increased expression:bile duct 1583341 Prr32 proline rich 32 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2299192 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1583341 Prr32 proline rich 32 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:2299192 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 1583341 Prr32 proline rich 32 gene DOID:12849 autistic disorder ISO RGD:2299192 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583341 Prr32 proline rich 32 gene DOID:630 genetic disease ISO RGD:2299192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583370 Cep43 centrosomal protein 43 gene DOID:630 genetic disease ISO RGD:1313011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583372 Krt79 keratin 79 gene DOID:630 genetic disease ISO RGD:1602275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583379 Gal3st1 galactose-3-O-sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350287 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1583379 Gal3st1 galactose-3-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1350287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583423 Kdm3b lysine demethylase 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1583423 Kdm3b lysine demethylase 3B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343523 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1583423 Kdm3b lysine demethylase 3B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583423 Kdm3b lysine demethylase 3B gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1343523 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:25741868 1583423 Kdm3b lysine demethylase 3B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1583423 Kdm3b lysine demethylase 3B gene DOID:11832 visual epilepsy IDA D RGD:9590119|PMID:24397026 20141113 RGD 1583423 Kdm3b lysine demethylase 3B gene DOID:1612 breast cancer severity ISO RGD:1343523 D RGD:9586731|PMID:23266085 20141003 RGD mRNA:decreased expression:breast (human) 1583423 Kdm3b lysine demethylase 3B gene DOID:1826 epilepsy ISO RGD:1343523 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Rare genetic epilepsy PMID:25741868 1583423 Kdm3b lysine demethylase 3B gene DOID:2030 anxiety disorder IDA D RGD:9590119|PMID:24397026 20141113 RGD 1583423 Kdm3b lysine demethylase 3B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343523 D RGD:9586737|PMID:18975135 20141003 RGD DNA:amplification:lung, peripheral blood mononuclear cell (human) 1583423 Kdm3b lysine demethylase 3B gene DOID:630 genetic disease ISO RGD:1343523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30929739 1583423 Kdm3b lysine demethylase 3B gene DOID:9000659 Heavy Metal Toxicity ISO RGD:1343523 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:21262293 1583423 Kdm3b lysine demethylase 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343523 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583423 Kdm3b lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:7240710 20200624 OMIM 1583423 Kdm3b lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diets-Jongmans syndrome PMID:25741868|PMID:29351919|PMID:30929739 1583423 Kdm3b lysine demethylase 3B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583423 Kdm3b lysine demethylase 3B gene DOID:9008086 Developmental Disabilities ISO RGD:1343523 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 1583423 Kdm3b lysine demethylase 3B gene DOID:9008582 Developmental Disease ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1583423 Kdm3b lysine demethylase 3B gene DOID:9256 colorectal cancer severity ISO RGD:1343523 D RGD:9586735|PMID:22345654 20141003 RGD protein:decreased expression:colon mucosa (human) 1583423 Kdm3b lysine demethylase 3B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343523 D RGD:9586728|PMID:22615488 20141003 RGD protein:increased expression:bone marrow, mononuclear cell (human) 1583435 Txlna taxilin alpha gene DOID:630 genetic disease ISO RGD:1603882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583447 Ccdc28b coiled coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:7240710 20170726 OMIM 1583447 Ccdc28b coiled coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12677556|PMID:16327777|PMID:25741868|PMID:28492532|PMID:29127258 1583447 Ccdc28b coiled coil domain containing 28B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603961 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12677556|PMID:16327777|PMID:29127258 1583447 Ccdc28b coiled coil domain containing 28B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603961 D RGD:9685059|PMID:16327777 20141216 RGD DNA:mutation:exon:430C>T(human) 1583447 Ccdc28b coiled coil domain containing 28B gene DOID:630 genetic disease ISO RGD:1603961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583461 Iqcc IQ motif containing C gene DOID:11612 polycystic ovary syndrome ISO RGD:1343946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1583461 Iqcc IQ motif containing C gene DOID:630 genetic disease ISO RGD:1343946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583476 Dcdc2b doublecortin domain containing 2B gene DOID:630 genetic disease ISO RGD:1604739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583487 Tmem234 transmembrane protein 234 gene DOID:630 genetic disease ISO RGD:1606787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:2340 craniosynostosis ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1602183 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:630 genetic disease ISO RGD:1602183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1583497 Lypd4 Ly6/Plaur domain containing 4 gene DOID:9269 maple syrup urine disease ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1583501 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:1345038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532|PMID:30847666 1583501 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1583501 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345038 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1583501 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:12849 autistic disorder ISO RGD:1345038 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583501 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1345038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1583506 Cenph centromere protein H gene DOID:630 genetic disease ISO RGD:1312617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583506 Cenph centromere protein H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312617 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583506 Cenph centromere protein H gene DOID:9007479 Habitual Abortions ISO RGD:1312617 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 1583513 Pcgf5 polycomb group ring finger 5 gene DOID:0080600 COVID-19 ISO RGD:1351153 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1583513 Pcgf5 polycomb group ring finger 5 gene DOID:630 genetic disease ISO RGD:1351153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583530 Alkal1 ALK and LTK ligand 1 gene DOID:12849 autistic disorder ISO RGD:1604440 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583530 Alkal1 ALK and LTK ligand 1 gene DOID:5419 schizophrenia ISO RGD:1604440 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583530 Alkal1 ALK and LTK ligand 1 gene DOID:630 genetic disease ISO RGD:1604440 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583546 Il19 interleukin 19 gene DOID:0050589 inflammatory bowel disease ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:25741868|PMID:26193622|PMID:28492532|PMID:9536098 1583546 Il19 interleukin 19 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1583546 Il19 interleukin 19 gene DOID:0081267 graft-versus-host disease ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 1583546 Il19 interleukin 19 gene DOID:1024 leprosy ISO RGD:1315107 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 1583546 Il19 interleukin 19 gene DOID:12849 autistic disorder ISO RGD:1315107 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583546 Il19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315108|RGD:1315107 D RGD:5037232|PMID:18246602 20110303 RGD 1583546 Il19 interleukin 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315107 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1583546 Il19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315108|RGD:1315107 D RGD:5037236|PMID:15557163 20110303 RGD protein:increased expression:serum 1583546 Il19 interleukin 19 gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20110303 RGD mRNA:increased expression:B cell 1583546 Il19 interleukin 19 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 1583546 Il19 interleukin 19 gene DOID:630 genetic disease ISO RGD:1315107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1583546 Il19 interleukin 19 gene DOID:7148 rheumatoid arthritis ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 1583546 Il19 interleukin 19 gene DOID:784 chronic kidney disease ISO RGD:1315107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24714768 1583546 Il19 interleukin 19 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 1583546 Il19 interleukin 19 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1583546 Il19 interleukin 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315107 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1583546 Il19 interleukin 19 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1315107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 1583565 Krt87 keratin 87 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:7240710 20130221 OMIM 1583565 Krt87 keratin 87 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:15744029|PMID:25557232|PMID:25741868|PMID:28492532 1583565 Krt87 keratin 87 gene DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ISO RGD:1318342 D RGD:7240710 20190315 OMIM 1583565 Krt87 keratin 87 gene DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ISO RGD:1318342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 PMID:25741868|PMID:27965375|PMID:28492532 1583565 Krt87 keratin 87 gene DOID:630 genetic disease ISO RGD:1318342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318821 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:1826 epilepsy ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318821 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:2871 endometrial carcinoma ISO RGD:1318821 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:630 genetic disease ISO RGD:1318821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318821 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1583566 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1583567 Tomm6 translocase of outer mitochondrial membrane 6 gene DOID:0050444 infantile Refsum disease ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1583567 Tomm6 translocase of outer mitochondrial membrane 6 gene DOID:630 genetic disease ISO RGD:2300132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583567 Tomm6 translocase of outer mitochondrial membrane 6 gene DOID:905 Zellweger syndrome ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1583578 Il20 interleukin 20 gene DOID:0050589 inflammatory bowel disease ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1583578 Il20 interleukin 20 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1583578 Il20 interleukin 20 gene DOID:12849 autistic disorder ISO RGD:1353403 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583578 Il20 interleukin 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1353403 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1583578 Il20 interleukin 20 gene DOID:3021 acute kidney failure ISO RGD:1353403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18496552 1583578 Il20 interleukin 20 gene DOID:630 genetic disease ISO RGD:1353403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583578 Il20 interleukin 20 gene DOID:7148 rheumatoid arthritis ISO RGD:1353403 D RGD:5147395|PMID:16947773 20110803 RGD 1583578 Il20 interleukin 20 gene DOID:783 end stage renal disease IEP D RGD:5147394|PMID:18639518 20110803 RGD protein:increased expression:multiple organs 1583578 Il20 interleukin 20 gene DOID:8893 psoriasis ISO RGD:1353403 D RGD:5147391|PMID:21109726 20110803 RGD associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human) 1583578 Il20 interleukin 20 gene DOID:9002457 Experimental Arthritis IMP D RGD:5147393|PMID:20722035 20110803 RGD 1583578 Il20 interleukin 20 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1583578 Il20 interleukin 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353403 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1583578 Il20 interleukin 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 1583592 Zmat2 zinc finger, matrin type 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353598 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1583592 Zmat2 zinc finger, matrin type 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583592 Zmat2 zinc finger, matrin type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353598 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583592 Zmat2 zinc finger, matrin type 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583600 Gpkow G patch domain and KOW motifs gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343451 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1583600 Gpkow G patch domain and KOW motifs gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1343451 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1583600 Gpkow G patch domain and KOW motifs gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1583600 Gpkow G patch domain and KOW motifs gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1343451 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1583600 Gpkow G patch domain and KOW motifs gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1583600 Gpkow G patch domain and KOW motifs gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1583600 Gpkow G patch domain and KOW motifs gene DOID:12849 autistic disorder ISO RGD:1343451 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583600 Gpkow G patch domain and KOW motifs gene DOID:630 genetic disease ISO RGD:1343451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583615 Magel2 MAGE family member L2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320098 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 1583615 Magel2 MAGE family member L2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 1583615 Magel2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:7240710 20140911 OMIM 1583615 Magel2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:24076603|PMID:24088041|PMID:25326635|PMID:25473036|PMID:25590979|PMID:25741868|PMID:26365340|PMID:26633545|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:31152388|PMID:31397880|PMID:31680349|PMID:32860008|PMID:33371171 1583615 Magel2 MAGE family member L2 gene DOID:1059 intellectual disability ISO RGD:1320098 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1583615 Magel2 MAGE family member L2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1320098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24076603 1583615 Magel2 MAGE family member L2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27195816|PMID:28281571|PMID:28492532|PMID:28631899 1583615 Magel2 MAGE family member L2 gene DOID:12849 autistic disorder ISO RGD:1320098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24076603 1583615 Magel2 MAGE family member L2 gene DOID:12849 autistic disorder ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311|PMID:31690835 1583615 Magel2 MAGE family member L2 gene DOID:1826 epilepsy ISO RGD:1320098 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1583615 Magel2 MAGE family member L2 gene DOID:1923 disorder of sexual development ISO RGD:1320098 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24076603|PMID:25741868|PMID:26365340|PMID:27195816|PMID:28492532|PMID:30302899|PMID:31152388|PMID:31680349 1583615 Magel2 MAGE family member L2 gene DOID:1932 Angelman syndrome ISO RGD:1320098 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 1583615 Magel2 MAGE family member L2 gene DOID:5419 schizophrenia ISO RGD:1320098 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583615 Magel2 MAGE family member L2 gene DOID:630 genetic disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:30323850 1583615 Magel2 MAGE family member L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899 1583615 Magel2 MAGE family member L2 gene DOID:9008582 Developmental Disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1583620 Capns2 calpain, small subunit 2 gene DOID:630 genetic disease ISO RGD:1345503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:10283 prostate cancer ISO RGD:1317786 D RGD:13506825|PMID:24961829 20180220 RGD DNA:SNP: :rs7903146 (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317786 D RGD:13506821|PMID:25678841 20180220 RGD DNA:SNPs: :rs7094463, rs10749127, rs11196224 (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:1059 intellectual disability ISO RGD:1317786 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:1317786 D RGD:2312455|PMID:18984664 20090818 RGD DNA:SNP (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1317786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:34003604 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317786 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1317786 D RGD:152599188|PMID:24338422 20220524 RGD DNA:SNP: :rs7003146(human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:1793 pancreatic cancer ISO RGD:1317786 D RGD:5490966|PMID:18772397 20140724 RGD DNA:mutations:exon 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:299 adenocarcinoma ISO RGD:1317786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:630 genetic disease ISO RGD:1317786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9000528 Coronary Disease ISO RGD:1317786 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317786 D RGD:6906926|PMID:19506043 20090813 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9002211 Hyperalgesia ISO RGD:1317786 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:33607128 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9002221 Hyperplasia ISO RGD:1317786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317786 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317786 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317786 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9006205 Animal Disease Models ISO RGD:1317786 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317786 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1317786 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9007692 Insulin Resistance ISO RGD:1317786 D RGD:2312433|PMID:19509102 20090813 RGD DNA:SNP (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892161|PMID:24836286 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9256 colorectal cancer ISO RGD:1317786 D RGD:13450926|PMID:25617745 20171109 RGD DNA:mutations:multiple (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9351 diabetes mellitus ISO RGD:1317786 D RGD:2312417|PMID:19585101 20090812 RGD associated with Cystic Fibrosis;DNA:SNP (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2312454|PMID:19386626 20090818 RGD 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317786 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:17460697|PMID:23104008|PMID:28869590 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317786 D RGD:2312433|PMID:19509102 20090813 RGD DNA:SNP (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16415884|PMID:17206141|PMID:17245407|PMID:17340123|PMID:17460697|PMID:17463248|PMID:17463249|PMID:17470138|PMID:17503332|PMID:17609304|PMID:17671651|PMID:18097733|PMID:19602480|PMID:20118932|PMID:21673050 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317786 D RGD:2312453|PMID:19482368 20090818 RGD DNA:SNPs: :multiple (human) 1583621 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317786 D RGD:7240710 20230505 OMIM 1583644 Shc4 SHC adaptor protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1602620 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1583644 Shc4 SHC adaptor protein 4 gene DOID:630 genetic disease ISO RGD:1602620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583644 Shc4 SHC adaptor protein 4 gene DOID:9256 colorectal cancer ISO RGD:1602620 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321748 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1321748 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:3305 teratocarcinoma IAGP D RGD:40924659|PMID:22655094 20210826 RGD compared to WKY 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:630 genetic disease ISO RGD:1321748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321748 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583648 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1583652 Adam12 ADAM metallopeptidase domain 12 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317265 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1583652 Adam12 ADAM metallopeptidase domain 12 gene DOID:5199 ureteral obstruction ISO RGD:1317266 D RGD:13703030|PMID:24103556 20180726 RGD 1583652 Adam12 ADAM metallopeptidase domain 12 gene DOID:630 genetic disease ISO RGD:1317265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583652 Adam12 ADAM metallopeptidase domain 12 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1317265 D RGD:1625347|PMID:15334463 20080514 RGD 1583655 Meig1 meiosis/spermiogenesis associated 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348116 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1583655 Meig1 meiosis/spermiogenesis associated 1 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348116 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:14744996|PMID:15071507|PMID:19912631|PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 1583655 Meig1 meiosis/spermiogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1348116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583663 Raet1ll1 retinoic acid early transcript 1L like 1 gene DOID:9004283 Transplant Rejection IEP D RGD:9685184|PMID:20306467 20141222 RGD 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316497 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1316497 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316497 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1316497 D RGD:151660329|PMID:32663515 20220303 RGD protein:decreased expression:blood (human) 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:630 genetic disease ISO RGD:1316497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1316497 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1583669 Glipr2 GLI pathogenesis-related 2 gene DOID:9870 galactosemia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1583676 Plekhg1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:10283 prostate cancer ISO RGD:1321123 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1583676 Plekhg1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:630 genetic disease ISO RGD:1321123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583676 Plekhg1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1321123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1583677 Tmem131l transmembrane 131 like gene DOID:630 genetic disease ISO RGD:1604047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583681 Fer1l5 fer-1-like family member 5 gene DOID:1059 intellectual disability ISO RGD:1625097 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1583681 Fer1l5 fer-1-like family member 5 gene DOID:5419 schizophrenia ISO RGD:1625097 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583681 Fer1l5 fer-1-like family member 5 gene DOID:630 genetic disease ISO RGD:1625097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583685 Saxo1 stabilizer of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1322281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:0060476 Perlman syndrome ISO RGD:1343519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1343519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:10608 celiac disease ISO RGD:1343519 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:2739 Gilbert syndrome ISO RGD:1343519 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1343519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1343519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:630 genetic disease ISO RGD:1343519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1343519 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 1583689 Ugt1a5 UDP glucuronosyltransferase family 1 member A5 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1343519 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 1583704 Cdkl4 cyclin-dependent kinase-like 4 gene DOID:1682 congenital heart disease ISO RGD:1603844 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Heart, malformation of 1583704 Cdkl4 cyclin-dependent kinase-like 4 gene DOID:3883 Lynch syndrome ISO RGD:1603844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1583704 Cdkl4 cyclin-dependent kinase-like 4 gene DOID:630 genetic disease ISO RGD:1603844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583704 Cdkl4 cyclin-dependent kinase-like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603844 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583718 Cd300lb CD300 molecule-like family member b gene DOID:630 genetic disease ISO RGD:1604243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583719 Cd300a Cd300a molecule gene DOID:630 genetic disease ISO RGD:1344130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583730 Or13f5 olfactory receptor family 13 subfamily F member 5 gene DOID:630 genetic disease ISO RGD:1342816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583731 Ankrd6 ankyrin repeat domain 6 gene DOID:630 genetic disease ISO RGD:1317569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583733 Lrrc69 leucine rich repeat containing 69 gene DOID:630 genetic disease ISO RGD:2293909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583734 Ngrn neugrin, neurite outgrowth associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1583734 Ngrn neugrin, neurite outgrowth associated gene DOID:2717 Bloom syndrome ISO RGD:1605389 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1583734 Ngrn neugrin, neurite outgrowth associated gene DOID:630 genetic disease ISO RGD:1605389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583734 Ngrn neugrin, neurite outgrowth associated gene DOID:9256 colorectal cancer ISO RGD:1605389 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1583737 Kctd15 potassium channel tetramerization domain containing 15 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1583737 Kctd15 potassium channel tetramerization domain containing 15 gene DOID:630 genetic disease ISO RGD:1313572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583737 Kctd15 potassium channel tetramerization domain containing 15 gene DOID:9970 obesity ISO RGD:1313572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 1583739 Dmrtc2 DMRT-like family C2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1583739 Dmrtc2 DMRT-like family C2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1583739 Dmrtc2 DMRT-like family C2 gene DOID:2340 craniosynostosis ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1583739 Dmrtc2 DMRT-like family C2 gene DOID:5419 schizophrenia ISO RGD:1345316 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583739 Dmrtc2 DMRT-like family C2 gene DOID:630 genetic disease ISO RGD:1345316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583739 Dmrtc2 DMRT-like family C2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1583739 Dmrtc2 DMRT-like family C2 gene DOID:9269 maple syrup urine disease ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1583741 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1583741 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:13501 Moebius syndrome ISO RGD:1349308 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1583741 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:1826 epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1583741 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1583741 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:1349308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583742 Prss33 serine protease 33 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1583742 Prss33 serine protease 33 gene DOID:1826 epilepsy ISO RGD:1323608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1583742 Prss33 serine protease 33 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1583742 Prss33 serine protease 33 gene DOID:630 genetic disease ISO RGD:1323608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583744 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1583744 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1583744 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1314578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1583744 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583765 Sp3 Sp3 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319818 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1583765 Sp3 Sp3 transcription factor gene DOID:630 genetic disease ISO RGD:1319818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583800 Ovol3 ovo-like zinc finger 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:5683924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1583800 Ovol3 ovo-like zinc finger 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:5683924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1583824 Tmem132c transmembrane protein 132C gene DOID:11372 megacolon ISO RGD:1601730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1583824 Tmem132c transmembrane protein 132C gene DOID:630 genetic disease ISO RGD:1601730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583825 Fzd10 frizzled class receptor 10 gene DOID:630 genetic disease ISO RGD:1347205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583832 Pgd phosphogluconate dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1583832 Pgd phosphogluconate dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1583832 Pgd phosphogluconate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:1343939 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1583832 Pgd phosphogluconate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:1343939 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1583832 Pgd phosphogluconate dehydrogenase gene DOID:630 genetic disease ISO RGD:1343939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583832 Pgd phosphogluconate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:1343939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 1583839 Golga7b golgin A7 family, member B gene DOID:630 genetic disease ISO RGD:1312882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583840 Dnmbp dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:7240710 20190605 OMIM 1583840 Dnmbp dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Cataract 48 PMID:25741868|PMID:30290152 1583840 Dnmbp dynamin binding protein gene DOID:630 genetic disease ISO RGD:1349665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583843 S1pr3 sphingosine-1-phosphate receptor 3 gene DOID:630 genetic disease ISO RGD:1352881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583848 Dnpep aspartyl aminopeptidase gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313575 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1583848 Dnpep aspartyl aminopeptidase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1583848 Dnpep aspartyl aminopeptidase gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1313575 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 1583848 Dnpep aspartyl aminopeptidase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1583848 Dnpep aspartyl aminopeptidase gene DOID:1148 polydactyly ISO RGD:1313575 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1583848 Dnpep aspartyl aminopeptidase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1583848 Dnpep aspartyl aminopeptidase gene DOID:630 genetic disease ISO RGD:1313575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583848 Dnpep aspartyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313575 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583850 Fsd1 fibronectin type III and SPRY domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1345798 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1583850 Fsd1 fibronectin type III and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1345798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583850 Fsd1 fibronectin type III and SPRY domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1583854 Fmnl3 formin-like 3 gene DOID:630 genetic disease ISO RGD:1606996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583856 Zfp277 zinc finger protein 277 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353791 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1583856 Zfp277 zinc finger protein 277 gene DOID:5419 schizophrenia ISO RGD:1353791 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583856 Zfp277 zinc finger protein 277 gene DOID:630 genetic disease ISO RGD:1353791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583856 Zfp277 zinc finger protein 277 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353791 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583866 Esrra estrogen related receptor, alpha gene DOID:0014667 disease of metabolism ISO RGD:730826 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16515477 1583866 Esrra estrogen related receptor, alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:730826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1583866 Esrra estrogen related receptor, alpha gene DOID:1059 intellectual disability ISO RGD:730826 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1583866 Esrra estrogen related receptor, alpha gene DOID:11476 osteoporosis ISO RGD:730827 D RGD:10401868|PMID:19936213 20151009 RGD 1583866 Esrra estrogen related receptor, alpha gene DOID:3070 high grade glioma ISO RGD:730826 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1583866 Esrra estrogen related receptor, alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730826 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 1583866 Esrra estrogen related receptor, alpha gene DOID:3347 osteosarcoma ISO RGD:730826 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:24967384|PMID:34524571 1583866 Esrra estrogen related receptor, alpha gene DOID:6000 congestive heart failure ISO RGD:730826 D RGD:10401867|PMID:21825219 20151009 RGD protein:decreased expression:heart: 1583866 Esrra estrogen related receptor, alpha gene DOID:630 genetic disease ISO RGD:730826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583866 Esrra estrogen related receptor, alpha gene DOID:9000918 Disease Progression ISO RGD:730826 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 1583866 Esrra estrogen related receptor, alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730827 D RGD:10401867|PMID:21825219 20151009 RGD 1583866 Esrra estrogen related receptor, alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730826 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 1583866 Esrra estrogen related receptor, alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 1583866 Esrra estrogen related receptor, alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 1583866 Esrra estrogen related receptor, alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:730826 D RGD:1625637|PMID:16755280 20070615 RGD 1583866 Esrra estrogen related receptor, alpha gene DOID:9970 obesity no_association ISO RGD:730826 D RGD:1625637|PMID:16755280 20070615 RGD 1583872 Il16 interleukin 16 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1351288 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs1131445) T>C (human) 1583872 Il16 interleukin 16 gene DOID:10283 prostate cancer ISO RGD:1351288 D RGD:2293182|PMID:18264096 20110302 RGD DNA:SNP:exon:rs4072111 (human) 1583872 Il16 interleukin 16 gene DOID:1205 allergic disease ISO RGD:1351288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 1583872 Il16 interleukin 16 gene DOID:2717 Bloom syndrome ISO RGD:1351288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1583872 Il16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:5024928|PMID:16734115 20110302 RGD associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion 1583872 Il16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:5024934|PMID:16387589 20110302 RGD DNA:SNP:promoter:-295T>C (human) 1583872 Il16 interleukin 16 gene DOID:2841 asthma ISO RGD:1557964 D RGD:5024937|PMID:10585533 20110302 RGD 1583872 Il16 interleukin 16 gene DOID:2841 asthma no_association ISO RGD:1351288 D RGD:5024935|PMID:15784111 20110302 RGD DNA:SNP:promoter:-295T>C (human) 1583872 Il16 interleukin 16 gene DOID:2841 asthma severity ISO RGD:1351288 D RGD:5024930|PMID:12872394 20110302 RGD protein:increased expression:serum 1583872 Il16 interleukin 16 gene DOID:3068 glioblastoma IEP D RGD:5024941|PMID:17221335 20110302 RGD protein:increased expression:brain 1583872 Il16 interleukin 16 gene DOID:3069 malignant astrocytoma ISO RGD:1351288 D RGD:5024941|PMID:17221335 20110302 RGD protein:increased expression:brain 1583872 Il16 interleukin 16 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351288 D RGD:5024924|PMID:20079227 20110302 RGD protein:increased expression:lung 1583872 Il16 interleukin 16 gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20110302 RGD mRNA:increased expression:T cell 1583872 Il16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1351288 D RGD:5024932|PMID:18254318 20110302 RGD protein:increased expression:serum 1583872 Il16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1557964 D RGD:5024931|PMID:19295235 20110302 RGD protein:increased expression:nasal cavity epithelium, serum 1583872 Il16 interleukin 16 gene DOID:5154 borna disease IEP D RGD:1354526|PMID:14698845 20110302 RGD protein:increased expression:brain 1583872 Il16 interleukin 16 gene DOID:630 genetic disease ISO RGD:1351288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583872 Il16 interleukin 16 gene DOID:8544 chronic fatigue syndrome ISO RGD:1351288 D RGD:11538286|PMID:26615570 20191112 RGD protein:decreased expression:plasma: 1583872 Il16 interleukin 16 gene DOID:9000998 Brain Injuries IEP D RGD:5024939|PMID:17983426 20110302 RGD 1583872 Il16 interleukin 16 gene DOID:9001363 Heavy Metal Poisoning, Nervous System IEP D RGD:1354526|PMID:14698845 20110302 RGD protein:increased expression:brain 1583872 Il16 interleukin 16 gene DOID:9001472 Nasal Polyps ISO RGD:1351288 D RGD:5024933|PMID:17431659 20110302 RGD associated with Sinusitis 1583872 Il16 interleukin 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 1583872 Il16 interleukin 16 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5024940|PMID:17641011 20110302 RGD 1583872 Il16 interleukin 16 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1583872 Il16 interleukin 16 gene DOID:9004484 Sepsis ISO RGD:1557964 D RGD:5024925|PMID:19641139 20110302 RGD associated with Shock, Hemorrhagic;protein:increased expression:lung 1583872 Il16 interleukin 16 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1351288 D RGD:4145665|PMID:14633438 20110302 RGD protein:increased expression:serum 1583872 Il16 interleukin 16 gene DOID:9256 colorectal cancer ISO RGD:1351288 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1583873 Prm1 protamine 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1350304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1583873 Prm1 protamine 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1350304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1583873 Prm1 protamine 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1583873 Prm1 protamine 1 gene DOID:630 genetic disease ISO RGD:1350304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583874 Zfp469 zinc finger protein 469 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316175 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25168418 1583874 Zfp469 zinc finger protein 469 gene DOID:10124 corneal disease ISO RGD:1316175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 1583874 Zfp469 zinc finger protein 469 gene DOID:10126 keratoconus ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:24895405|PMID:25741868|PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:11830 myopia ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33816482|PMID:34368841 1583874 Zfp469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 1583874 Zfp469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:7240710 20140723 OMIM 1583874 Zfp469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B PMID:18452888|PMID:19661234|PMID:20938016|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33747040|PMID:33816482|PMID:34368841|PMID:5755738|PMID:7387950 1583874 Zfp469 zinc finger protein 469 gene DOID:14780 KBG syndrome ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 1583874 Zfp469 zinc finger protein 469 gene DOID:630 genetic disease ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:65 connective tissue disease ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 1583874 Zfp469 zinc finger protein 469 gene DOID:9001224 Striae Distensae ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 1583874 Zfp469 zinc finger protein 469 gene DOID:9001946 Skin Abnormalities ISO RGD:1316175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 1583874 Zfp469 zinc finger protein 469 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316175 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 1583874 Zfp469 zinc finger protein 469 gene DOID:9003318 Keratoconus 1 ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:24895405|PMID:25564447|PMID:25741868|PMID:28492532|PMID:29228253 1583874 Zfp469 zinc finger protein 469 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316175 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1583874 Zfp469 zinc finger protein 469 gene DOID:9005077 Joint Instability ISO RGD:1316175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 1583874 Zfp469 zinc finger protein 469 gene DOID:9005077 Joint Instability ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity PMID:25741868 1583874 Zfp469 zinc finger protein 469 gene DOID:9005468 Brittle Cornea Syndrome ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome PMID:25741868|PMID:28492532|PMID:29228253 1583877 H3f4 H3.4 histone, cluster member gene DOID:10316 pneumoconiosis ISO RGD:1317808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1583877 H3f4 H3.4 histone, cluster member gene DOID:1059 intellectual disability ISO RGD:1317808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1583877 H3f4 H3.4 histone, cluster member gene DOID:1540 parathyroid carcinoma ISO RGD:1317808 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1583877 H3f4 H3.4 histone, cluster member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317808 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1583880 Zwilch zwilch kinetochore protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1583880 Zwilch zwilch kinetochore protein gene DOID:2717 Bloom syndrome ISO RGD:1602882 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1583880 Zwilch zwilch kinetochore protein gene DOID:630 genetic disease ISO RGD:1602882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583880 Zwilch zwilch kinetochore protein gene DOID:9004657 Weight Gain ISO RGD:1602882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1583880 Zwilch zwilch kinetochore protein gene DOID:9256 colorectal cancer ISO RGD:1602882 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1583885 H2bu1 H2B.U histone 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1312718 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1583885 H2bu1 H2B.U histone 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312718 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1583888 C6h14orf180 similar to human chromosome 14 open reading frame 180 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1583888 C6h14orf180 similar to human chromosome 14 open reading frame 180 gene DOID:630 genetic disease ISO RGD:1603812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583888 C6h14orf180 similar to human chromosome 14 open reading frame 180 gene DOID:684 hepatocellular carcinoma ISO RGD:1603812 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1583889 Eri2 ERI1 exoribonuclease family member 2 gene DOID:0080600 COVID-19 ISO RGD:1605306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1583889 Eri2 ERI1 exoribonuclease family member 2 gene DOID:630 genetic disease ISO RGD:1605306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583895 Cpne6 copine 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1583895 Cpne6 copine 6 gene DOID:630 genetic disease ISO RGD:1313396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583895 Cpne6 copine 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1583895 Cpne6 copine 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313396 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1583902 Slc2a7 solute carrier family 2 member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344587 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1583902 Slc2a7 solute carrier family 2 member 7 gene DOID:630 genetic disease ISO RGD:1344587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583902 Slc2a7 solute carrier family 2 member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344587 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583909 Dhrs2 dehydrogenase/reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321774 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1583909 Dhrs2 dehydrogenase/reductase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1583909 Dhrs2 dehydrogenase/reductase 2 gene DOID:630 genetic disease ISO RGD:1321774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583909 Dhrs2 dehydrogenase/reductase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 1583909 Dhrs2 dehydrogenase/reductase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321774 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1583918 Calml4 calmodulin-like 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1583918 Calml4 calmodulin-like 4 gene DOID:2717 Bloom syndrome ISO RGD:1344788 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1583918 Calml4 calmodulin-like 4 gene DOID:630 genetic disease ISO RGD:1344788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583918 Calml4 calmodulin-like 4 gene DOID:9256 colorectal cancer ISO RGD:1344788 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1583926 Ppp1r3e protein phosphatase 1, regulatory subunit 3E gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 1583926 Ppp1r3e protein phosphatase 1, regulatory subunit 3E gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 1583926 Ppp1r3e protein phosphatase 1, regulatory subunit 3E gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318988 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1583927 Tmem190 transmembrane protein 190 gene DOID:630 genetic disease ISO RGD:1604743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583942 Slc25a33 solute carrier family 25 member 33 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1583942 Slc25a33 solute carrier family 25 member 33 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1583942 Slc25a33 solute carrier family 25 member 33 gene DOID:630 genetic disease ISO RGD:1604265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583942 Slc25a33 solute carrier family 25 member 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604265 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583944 Shisa7 shisa family member 7 gene DOID:630 genetic disease ISO RGD:3160565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583947 Tmem201 transmembrane protein 201 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1583947 Tmem201 transmembrane protein 201 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604210 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1583947 Tmem201 transmembrane protein 201 gene DOID:630 genetic disease ISO RGD:1604210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583947 Tmem201 transmembrane protein 201 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604210 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1583955 LOC691418 hypothetical protein LOC691418 gene DOID:2717 Bloom syndrome ISO RGD:2299194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1583955 LOC691418 hypothetical protein LOC691418 gene DOID:9256 colorectal cancer ISO RGD:2299194 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1583957 Aknad1 AKNA domain containing 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1583957 Aknad1 AKNA domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604964 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1583957 Aknad1 AKNA domain containing 1 gene DOID:630 genetic disease ISO RGD:1604964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583965 Sbk3 SH3 domain binding kinase family, member 3 gene DOID:630 genetic disease ISO RGD:7386817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1583978 Prima1 proline rich membrane anchor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 1583978 Prima1 proline rich membrane anchor 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1583978 Prima1 proline rich membrane anchor 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1583978 Prima1 proline rich membrane anchor 1 gene DOID:630 genetic disease ISO RGD:1315672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1583978 Prima1 proline rich membrane anchor 1 gene DOID:9884 muscular dystrophy ISO RGD:1315672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 1583985 Fam168b family with sequence similarity 168, member B gene DOID:2661 myoepithelioma ISO RGD:1606974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1583985 Fam168b family with sequence similarity 168, member B gene DOID:5419 schizophrenia ISO RGD:1606974 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1583985 Fam168b family with sequence similarity 168, member B gene DOID:630 genetic disease ISO RGD:1606974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584007 Harbi1 harbinger transposase derived 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1601808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1584007 Harbi1 harbinger transposase derived 1 gene DOID:1059 intellectual disability ISO RGD:1601808 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584007 Harbi1 harbinger transposase derived 1 gene DOID:630 genetic disease ISO RGD:1601808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584007 Harbi1 harbinger transposase derived 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601808 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:11476 osteoporosis ISO RGD:1312252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1312252 D RGD:2326201|PMID:8844009 20100629 RGD protein:decreased activity:multiple (human) 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:630 genetic disease ISO RGD:1312252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:7240710 20130221 OMIM 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency | ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency PMID:10964512|PMID:1405472|PMID:15669687|PMID:16199547|PMID:17576681|PMID:17706444|PMID:20818383|PMID:21296660|PMID:23281106|PMID:23420214|PMID:23757202|PMID:25741868|PMID:28488182|PMID:28492532|PMID:31216074|PMID:8751852|PMID:9392403|PMID:9536098|PMID:9671268 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312252 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2326100|PMID:3548709 20100624 RGD protein:decreased activity:heart, mitochondrion (rat) 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9007730 Burns IEP D RGD:2326198|PMID:15449568 20100629 RGD protein:increased expression:ileum (rat) 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2326185|PMID:20460097 20100629 RGD mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) 1584008 Oxct1 3-oxoacid CoA transferase 1 gene DOID:9970 obesity IEP D RGD:2326191|PMID:19219059 20100629 RGD mRNA:decreased expression:thalamus (rat) 1584010 Hfm1 helicase for meiosis 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1606438 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 1584010 Hfm1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:7240710 20140911 OMIM 1584010 Hfm1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 9 PMID:24597873|PMID:25741868 1584010 Hfm1 helicase for meiosis 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1606438 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1584010 Hfm1 helicase for meiosis 1 gene DOID:14227 azoospermia ISO RGD:1606438 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 1584010 Hfm1 helicase for meiosis 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606438 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 1584010 Hfm1 helicase for meiosis 1 gene DOID:630 genetic disease ISO RGD:1606438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584013 Fpr2 formyl peptide receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1316624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1584013 Fpr2 formyl peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1316624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584013 Fpr2 formyl peptide receptor 2 gene DOID:8778 Crohn's disease ISO RGD:1316624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21659618 1584027 C7h12orf40 similar to human chromosome 12 open reading frame 40 gene DOID:630 genetic disease ISO RGD:1606924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584029 Rbm24 RNA binding motif protein 24 gene DOID:12930 dilated cardiomyopathy ISS RGD:1614519 D RGD:13592920 20221229 MouseDO 1584029 Rbm24 RNA binding motif protein 24 gene DOID:630 genetic disease ISO RGD:1317276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584031 Tmem120b transmembrane protein 120B gene DOID:630 genetic disease ISO RGD:1626589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584038 Rhof ras homolog family member F, filopodia associated gene DOID:630 genetic disease ISO RGD:1352247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584042 H3c15l-ps1 H3 clustered histone 15 like, pseudogene 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342896 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584042 H3c15l-ps1 H3 clustered histone 15 like, pseudogene 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342896 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584051 Rgsl1 regulator of G-protein signaling like 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1584051 Rgsl1 regulator of G-protein signaling like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353178 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584051 Rgsl1 regulator of G-protein signaling like 1 gene DOID:630 genetic disease ISO RGD:1353178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584051 Rgsl1 regulator of G-protein signaling like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353178 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1584051 Rgsl1 regulator of G-protein signaling like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353178 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:7240710 20220202 OMIM 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 65 PMID:25741868|PMID:28492532|PMID:33279834|PMID:34932939 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601824 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:4450 renal cell carcinoma ISO RGD:1601824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:4990 essential tremor ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:28492532|PMID:33279834 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:630 genetic disease ISO RGD:1601824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601824 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DNHD1-related Neurodevelopmental Disorder 1584052 Dnhd1 dynein heavy chain domain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601824 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 1584061 Kncn kinocilin gene DOID:630 genetic disease ISO RGD:1604992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584064 H2ac21 H2A clustered histone 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1350646 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584064 H2ac21 H2A clustered histone 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350646 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584081 Nol11 nucleolar protein 11 gene DOID:630 genetic disease ISO RGD:1603676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584081 Nol11 nucleolar protein 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1603676 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28942966 1584082 Gpr152 G protein-coupled receptor 152 gene DOID:1059 intellectual disability ISO RGD:1354216 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584082 Gpr152 G protein-coupled receptor 152 gene DOID:630 genetic disease ISO RGD:1354216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584082 Gpr152 G protein-coupled receptor 152 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1584082 Gpr152 G protein-coupled receptor 152 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1354216 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive 1584082 Gpr152 G protein-coupled receptor 152 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18499082|PMID:24781756|PMID:25741868|PMID:28492532 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:543 dystonia ISO RGD:1343660 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:630 genetic disease ISO RGD:1343660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:9003553 Mitochondrial Complex IV Deficiency, Nuclear Type 7 ISO RGD:1343660 D RGD:7240710 20201111 OMIM 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:9003553 Mitochondrial Complex IV Deficiency, Nuclear Type 7 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:28492532 1584097 Cox6b1 cytochrome c oxidase subunit 6B1 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868 1584102 Tmem61 transmembrane protein 61 gene DOID:630 genetic disease ISO RGD:1604209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584104 Ip6k3 inositol hexakisphosphate kinase 3 gene DOID:0050553 JMP syndrome ISO RGD:1350328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1584104 Ip6k3 inositol hexakisphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:1350328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584118 Tsga13 testis specific, 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314383 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1584118 Tsga13 testis specific, 13 gene DOID:630 genetic disease ISO RGD:1314383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584121 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0080600 COVID-19 ISO RGD:1604369 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1584121 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1584121 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1604369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1584121 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:543 dystonia ISO RGD:1604369 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1584121 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:630 genetic disease ISO RGD:1604369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584123 Nap1l5 nucleosome assembly protein 1-like 5 gene DOID:630 genetic disease ISO RGD:1348887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584123 Nap1l5 nucleosome assembly protein 1-like 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348887 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1584123 Nap1l5 nucleosome assembly protein 1-like 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1584124 Cxhxorf66 similar to human chromosome X open reading frame 66 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606098 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584124 Cxhxorf66 similar to human chromosome X open reading frame 66 gene DOID:12259 hemophilia B ISO RGD:1606098 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 1584124 Cxhxorf66 similar to human chromosome X open reading frame 66 gene DOID:12849 autistic disorder ISO RGD:1606098 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584124 Cxhxorf66 similar to human chromosome X open reading frame 66 gene DOID:630 genetic disease ISO RGD:1606098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584125 Nalf2 NALCN channel auxiliary factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350785 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584125 Nalf2 NALCN channel auxiliary factor 2 gene DOID:12849 autistic disorder ISO RGD:1350785 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584125 Nalf2 NALCN channel auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1350785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584143 Cdc20b cell division cycle 20B gene DOID:630 genetic disease ISO RGD:1602643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584143 Cdc20b cell division cycle 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602643 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584144 Tbx10 T-box transcription factor 10 gene DOID:1059 intellectual disability ISO RGD:1342498 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584144 Tbx10 T-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:1342498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584144 Tbx10 T-box transcription factor 10 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1584144 Tbx10 T-box transcription factor 10 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1584147 Cib4 calcium and integrin binding family member 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1584147 Cib4 calcium and integrin binding family member 4 gene DOID:630 genetic disease ISO RGD:1606728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584153 Dda1 DET1 and DDB1 associated 1 gene DOID:630 genetic disease ISO RGD:1601973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584155 Slc25a28 solute carrier family 25 member 28 gene DOID:630 genetic disease ISO RGD:1312988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584164 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:7240710 20200101 OMIM 1584164 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 PMID:1523039|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:30237576|PMID:8813877 1584164 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:630 genetic disease ISO RGD:6771255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1584164 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771255 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584164 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:6771255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877 1584165 Cfap97d2 CFAP97 domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:13463569 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1584166 Aldh3b2 aldehyde dehydrogenase 3 family, member B2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318187 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1584166 Aldh3b2 aldehyde dehydrogenase 3 family, member B2 gene DOID:1059 intellectual disability ISO RGD:1318187 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584166 Aldh3b2 aldehyde dehydrogenase 3 family, member B2 gene DOID:630 genetic disease ISO RGD:1318187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584166 Aldh3b2 aldehyde dehydrogenase 3 family, member B2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318187 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1584166 Aldh3b2 aldehyde dehydrogenase 3 family, member B2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158538 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349504 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:11476 osteoporosis ISO RGD:1349504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349504 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:363 uterine cancer ISO RGD:1349504 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1349504 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1349504 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349504 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1349504 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:1349504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349504 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349504 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1349504 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1349504 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9263 homocystinuria ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1584190 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1584200 Denr density regulated reinitiation and release factor gene DOID:630 genetic disease ISO RGD:1351149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584204 Anks4b ankyrin repeat and sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1606413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584205 LOC687560 hypothetical protein LOC687560 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:5132711 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1584205 LOC687560 hypothetical protein LOC687560 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5132711 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1584212 Foxl1 forkhead box L1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1353210 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1584212 Foxl1 forkhead box L1 gene DOID:630 genetic disease ISO RGD:1353210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584226 Mthfsd methenyltetrahydrofolate synthetase domain containing gene DOID:0111985 immunodeficiency 32B ISO RGD:1604316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 1584226 Mthfsd methenyltetrahydrofolate synthetase domain containing gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604316 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1584226 Mthfsd methenyltetrahydrofolate synthetase domain containing gene DOID:630 genetic disease ISO RGD:1604316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584229 Foxf1 forkhead box F1 gene DOID:0111985 immunodeficiency 32B ISO RGD:1348211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 1584229 Foxf1 forkhead box F1 gene DOID:114 heart disease ISO RGD:1348211 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal cardiac atrium morphology PMID:25741868 1584229 Foxf1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:7240710 20160127 OMIM 1584229 Foxf1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia PMID:15520767|PMID:19500772|PMID:23505205|PMID:24033266|PMID:25741868|PMID:27071622|PMID:27439648|PMID:28469849|PMID:28492532|PMID:30380203 1584229 Foxf1 forkhead box F1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1348211 D RGD:8554872 20160607 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension PMID:19500772|PMID:19592680|PMID:19812545|PMID:20425831|PMID:22766610|PMID:23034409|PMID:23074687|PMID:23335808|PMID:23505205|PMID:23943206|PMID:24033266|PMID:24842713|PMID:26462560 1584229 Foxf1 forkhead box F1 gene DOID:14679 VACTERL association ISO RGD:1348211 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: VATER association PMID:2629409|PMID:26294094 1584229 Foxf1 forkhead box F1 gene DOID:1657 ventricular septal defect ISO RGD:1348211 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 1584229 Foxf1 forkhead box F1 gene DOID:2320 obstructive lung disease ISO RGD:1348211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 1584229 Foxf1 forkhead box F1 gene DOID:350 mastocytosis ISO RGD:1348211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 1584229 Foxf1 forkhead box F1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348211 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 1584229 Foxf1 forkhead box F1 gene DOID:630 genetic disease ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1584229 Foxf1 forkhead box F1 gene DOID:9000179 Infantile Hypertrophic Pyloric Stenosis 5 ISO RGD:1348211 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 5 1584229 Foxf1 forkhead box F1 gene DOID:9000807 Megaduodenum ISO RGD:1348211 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Fetal megacystis PMID:25741868 1584229 Foxf1 forkhead box F1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348211 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1584266 Ppm1m protein phosphatase, Mg2+/Mn2+ dependent, 1M gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1602186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1584266 Ppm1m protein phosphatase, Mg2+/Mn2+ dependent, 1M gene DOID:630 genetic disease ISO RGD:1602186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584269 Wdr82 WD repeat domain 82 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1584269 Wdr82 WD repeat domain 82 gene DOID:630 genetic disease ISO RGD:1604285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584324 Naa16 N(alpha)-acetyltransferase 16, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1606244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584329 Mtrf1 mitochondrial translation release factor 1 gene DOID:630 genetic disease ISO RGD:1352853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:7240710 20190904 OMIM 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive PMID:15645389|PMID:1634754|PMID:16977596|PMID:2333887|PMID:24824130|PMID:25290684|PMID:25606444|PMID:25741868|PMID:26880286|PMID:28492532|PMID:4847854|PMID:5645693 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:0111866 trichothiodystrophy ISO RGD:1344320 D RGD:11554173 20180801 CTD CTD Direct Evidence: marker/mechanism 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1344320 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1344320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344320 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1584365 Mplkip M-phase specific PLK1 interacting protein gene DOID:630 genetic disease ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584367 Ppp1r35 protein phosphatase 1, regulatory subunit 35 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604503 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1584367 Ppp1r35 protein phosphatase 1, regulatory subunit 35 gene DOID:630 genetic disease ISO RGD:1604503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584376 Cd300lg Cd300 molecule-like family member G gene DOID:630 genetic disease ISO RGD:1601720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584380 Tsc22d4 TSC22 domain family, member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601955 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1584380 Tsc22d4 TSC22 domain family, member 4 gene DOID:630 genetic disease ISO RGD:1601955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:10316 pneumoconiosis ISO RGD:1344226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1826 epilepsy ISO RGD:1344226 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344226 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:630 genetic disease ISO RGD:1344226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:7240710 20210811 OMIM 1584381 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 8 PMID:33508266 1584388 Fam25a family with sequence similarity 25, member A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1347345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1584388 Fam25a family with sequence similarity 25, member A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1347345 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 1584388 Fam25a family with sequence similarity 25, member A gene DOID:630 genetic disease ISO RGD:1347345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584398 Zmat4 zinc finger, matrin type 4 gene DOID:630 genetic disease ISO RGD:1606216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584422 Ccdc9 coiled-coil domain containing 9 gene DOID:630 genetic disease ISO RGD:1348427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584423 LOC684932 similar to Zinc finger protein 75 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345365 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584423 LOC684932 similar to Zinc finger protein 75 gene DOID:12849 autistic disorder ISO RGD:1345365 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584423 LOC684932 similar to Zinc finger protein 75 gene DOID:630 genetic disease ISO RGD:1345365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584452 Dhx34 DExH-box helicase 34 gene DOID:0080322 polycystic kidney disease ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31256877 1584452 Dhx34 DExH-box helicase 34 gene DOID:1059 intellectual disability ISO RGD:1605422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584452 Dhx34 DExH-box helicase 34 gene DOID:1826 epilepsy ISO RGD:1605422 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 1584452 Dhx34 DExH-box helicase 34 gene DOID:630 genetic disease ISO RGD:1605422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584452 Dhx34 DExH-box helicase 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 1584452 Dhx34 DExH-box helicase 34 gene DOID:9007661 Dwarfism ISO RGD:1605422 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Short stature PMID:31256877 1584453 Zfp449 zinc finger protein 449 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348166 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584453 Zfp449 zinc finger protein 449 gene DOID:12849 autistic disorder ISO RGD:1348166 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584453 Zfp449 zinc finger protein 449 gene DOID:630 genetic disease ISO RGD:1348166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584453 Zfp449 zinc finger protein 449 gene DOID:9007661 Dwarfism ISO RGD:1348166 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1584466 Snx9 sorting nexin 9 gene DOID:10348 blepharophimosis ISO RGD:1353452 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 1584466 Snx9 sorting nexin 9 gene DOID:630 genetic disease ISO RGD:1353452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584485 Sri sorcin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603229 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1584485 Sri sorcin gene DOID:6000 congestive heart failure IEP D RGD:7327198|PMID:20945956 20130916 RGD protein:decreased expression:cardiac muscle cell 1584485 Sri sorcin gene DOID:6000 congestive heart failure IEP D RGD:7327200|PMID:12754254 20130916 RGD associated with Hypertension 1584485 Sri sorcin gene DOID:630 genetic disease ISO RGD:1603229 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584485 Sri sorcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603229 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1584485 Sri sorcin gene DOID:9003936 Cardiomegaly ISO RGD:1621397 D RGD:7327201|PMID:11485922 20130916 RGD 1584485 Sri sorcin gene DOID:9004657 Weight Gain ISO RGD:1603229 D RGD:11554173 20220111 CTD CTD Direct Evidence: therapeutic PMID:33930463 1584525 Lbh LBH regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1604281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584525 Lbh LBH regulator of WNT signaling pathway gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1584538 Krt71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:7240710 20170503 OMIM 1584538 Krt71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 13 PMID:22592156|PMID:25741868 1584538 Krt71 keratin 71 gene DOID:305 carcinoma ISO RGD:1604251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1584538 Krt71 keratin 71 gene DOID:4535 hypotrichosis ISO RGD:1604251 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1584538 Krt71 keratin 71 gene DOID:630 genetic disease ISO RGD:1604251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584538 Krt71 keratin 71 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1584538 Krt71 keratin 71 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1584538 Krt71 keratin 71 gene DOID:987 alopecia IAGP D RGD:11570415|PMID:20179389 20211021 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del 1584548 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1606268 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1584548 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1606268 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1584548 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:630 genetic disease ISO RGD:1606268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584548 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1606268 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1584560 Eif3i eukaryotic translation initiation factor 3, subunit I gene DOID:630 genetic disease ISO RGD:1350072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584560 Eif3i eukaryotic translation initiation factor 3, subunit I gene DOID:9002928 Colonic Neoplasms ISO RGD:1350072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056964 1584560 Eif3i eukaryotic translation initiation factor 3, subunit I gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11830523|PMID:24056964 1584589 Fam167b family with sequence similarity 167, member B gene DOID:630 genetic disease ISO RGD:1606487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584589 Fam167b family with sequence similarity 167, member B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1584617 Nkx3-2 NK3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1353604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1584617 Nkx3-2 NK3 homeobox 2 gene DOID:65 connective tissue disease ISO RGD:1353604 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1584617 Nkx3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:7240710 20130731 OMIM 1584617 Nkx3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:20004766|PMID:25741868|PMID:28492532|PMID:29704686 1584648 Nxpe3 neurexophilin and PC-esterase domain family, member 3 gene DOID:630 genetic disease ISO RGD:1348429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1322006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322006 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1322006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 ISO RGD:1322006 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 ISO RGD:1322006 D RGD:8554872 20170704 ClinVar ClinVar Annotator: match by term: Wilms tumor 5 PMID:11284034|PMID:15459955 1584652 Pou6f2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 susceptibility ISO RGD:1322006 D RGD:7240710 20190502 OMIM 1584653 Ccdc157 coiled-coil domain containing 157 gene DOID:630 genetic disease ISO RGD:1604878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584658 Pigf phosphatidylinositol glycan anchor biosynthesis, class F gene DOID:3883 Lynch syndrome ISO RGD:1351645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1584658 Pigf phosphatidylinositol glycan anchor biosynthesis, class F gene DOID:630 genetic disease ISO RGD:1351645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584658 Pigf phosphatidylinositol glycan anchor biosynthesis, class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:7240710 20210818 OMIM 1584658 Pigf phosphatidylinositol glycan anchor biosynthesis, class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome PMID:33386993 1584658 Pigf phosphatidylinositol glycan anchor biosynthesis, class F gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:1351645 D RGD:8554872 20161025 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:27250922 1584674 Fcamr Fc alpha and mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 1584674 Fcamr Fc alpha and mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 1584674 Fcamr Fc alpha and mu receptor gene DOID:12849 autistic disorder ISO RGD:1605024 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584674 Fcamr Fc alpha and mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1605024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584674 Fcamr Fc alpha and mu receptor gene DOID:630 genetic disease ISO RGD:1605024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584674 Fcamr Fc alpha and mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1584674 Fcamr Fc alpha and mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605024 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584675 Pilrb1 paired immunoglobin-like type 2 receptor beta 1 gene DOID:630 genetic disease ISO RGD:1603396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347675 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1347675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1347675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:12849 autistic disorder ISO RGD:1347675 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:630 genetic disease ISO RGD:1347675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347675 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584678 Fthl17a ferritin, heavy polypeptide-like 17, member A gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347675 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1584682 Slbp stem-loop binding protein gene DOID:12270 coloboma ISO RGD:1350910 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 1584682 Slbp stem-loop binding protein gene DOID:1856 cherubism ISO RGD:1350910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1584682 Slbp stem-loop binding protein gene DOID:5723 optic atrophy ISO RGD:1350910 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 1584682 Slbp stem-loop binding protein gene DOID:630 genetic disease ISO RGD:1350910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584682 Slbp stem-loop binding protein gene DOID:9006597 Retinal Dysplasia ISO RGD:1350910 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 1584685 Vps25 vacuolar protein sorting 25 homolog gene DOID:0080600 COVID-19 ISO RGD:1603949 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1584685 Vps25 vacuolar protein sorting 25 homolog gene DOID:630 genetic disease ISO RGD:1603949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584688 Erfe erythroferrone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1584688 Erfe erythroferrone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1584688 Erfe erythroferrone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606147 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1584688 Erfe erythroferrone gene DOID:1059 intellectual disability ISO RGD:1606147 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584688 Erfe erythroferrone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1317520 D RGD:30296651|PMID:19088041 20200611 RGD 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317520 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:4007 bladder carcinoma disease_progression ISO RGD:1317520 D RGD:30296649|PMID:22682992 20200611 RGD 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:5812 MHC class II deficiency ISO RGD:1317520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:630 genetic disease ISO RGD:1317520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:9001620 Leukoaraiosis susceptibility ISO RGD:1317520 D RGD:30296652|PMID:31396257 20200611 RGD DNA:SNP: :rs2984613(human) 1584694 Pmf1 polyamine-modulated factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317520 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2301277 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:7240710 20170308 OMIM 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 101 PMID:24619944|PMID:25741868|PMID:28492532 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:630 genetic disease ISO RGD:2301277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301277 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584696 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1584707 Prelid2 PRELI domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1584707 Prelid2 PRELI domain containing 2 gene DOID:630 genetic disease ISO RGD:1606141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584707 Prelid2 PRELI domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606141 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584707 Prelid2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1584707 Prelid2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1584711 Prss41 serine protease 41 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2301124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1584711 Prss41 serine protease 41 gene DOID:1826 epilepsy ISO RGD:2301124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1584711 Prss41 serine protease 41 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2301124 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1584711 Prss41 serine protease 41 gene DOID:630 genetic disease ISO RGD:2301124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584713 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:3910 lung adenocarcinoma ISO RGD:1353294 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1584713 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:9006205 Animal Disease Models ISO RGD:1353294 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1584713 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:9261 nasopharynx carcinoma ISO RGD:1353294 D RGD:10755709|PMID:24080422 20160203 RGD mRNA:increased expression:nasopharynx (human) 1584719 Ndufa4 Ndufa4, mitochondrial complex associated gene DOID:630 genetic disease ISO RGD:1352480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584719 Ndufa4 Ndufa4, mitochondrial complex associated gene DOID:9004227 Mitochondrial Complex IV Deficiency, Nuclear Type 21 ISO RGD:1352480 D RGD:7240710 20201111 OMIM 1584719 Ndufa4 Ndufa4, mitochondrial complex associated gene DOID:9004227 Mitochondrial Complex IV Deficiency, Nuclear Type 21 ISO RGD:1352480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 PMID:25741868 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0050777 Joubert syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:3652 Leigh disease ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:630 genetic disease ISO RGD:1316813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584720 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1323634 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:5812 MHC class II deficiency ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:585 nephrolithiasis ISO RGD:1323634 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:630 genetic disease ISO RGD:1323634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584722 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323634 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603683 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:5812 MHC class II deficiency ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1603683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584731 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603683 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1584735 Bend4 BEN domain containing 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605502 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 1584735 Bend4 BEN domain containing 4 gene DOID:630 genetic disease ISO RGD:1605502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584735 Bend4 BEN domain containing 4 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:35221871 1584737 Spmip5 sperm associated microtubule inner protein 5 gene DOID:303 substance-related disorder ISO RGD:1352905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1584737 Spmip5 sperm associated microtubule inner protein 5 gene DOID:630 genetic disease ISO RGD:1352905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584739 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 1584739 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353290 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 1584739 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 1584739 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:630 genetic disease ISO RGD:1353290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584739 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1353290 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1584739 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 1584755 Clec5a C-type lectin domain containing 5A gene DOID:0080690 RASopathy ISO RGD:1343085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1584755 Clec5a C-type lectin domain containing 5A gene DOID:12206 dengue hemorrhagic fever ISO RGD:1343085 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18496526 1584755 Clec5a C-type lectin domain containing 5A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343085 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1584755 Clec5a C-type lectin domain containing 5A gene DOID:630 genetic disease ISO RGD:1343085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584755 Clec5a C-type lectin domain containing 5A gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1343085 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 1584758 Slc17a4 solute carrier family 17, member 4 gene DOID:630 genetic disease ISO RGD:1314119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584795 Tma7 translation machinery associated 7 homolog gene DOID:630 genetic disease ISO RGD:1605384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584795 Tma7 translation machinery associated 7 homolog gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:0050888 syndromic intellectual disability ISS RGD:1316706 D RGD:13592920 20180518 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:1059 intellectual disability ISO RGD:1316705 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:12849 autistic disorder ISO RGD:1316705 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autistic behavior 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:1826 epilepsy ISO RGD:1316705 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:2843 long QT syndrome ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:630 genetic disease ISO RGD:1316705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:27939639|PMID:27939640|PMID:28490743|PMID:28492532 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316705 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1316705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9002914 Familial Sudden Death ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:32652122 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316705 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1316705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 PMID:25741868 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32652122 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9008582 Developmental Disease ISO RGD:1316705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:7240710 20190315 OMIM 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis PMID:25741868|PMID:27939639|PMID:27939640|PMID:28492532|PMID:32010779|PMID:32652122 1584828 Brpf1 bromodomain and PHD finger containing, 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1316705 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1584840 Barx2 BARX homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350102 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1584840 Barx2 BARX homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1350102 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1584840 Barx2 BARX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584840 Barx2 BARX homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350102 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1584840 Barx2 BARX homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1350102 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10464653|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:24033266|PMID:24489909|PMID:25741868|PMID:28492532|PMID:28832562|PMID:30655312 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060232 branchiootic syndrome ISO RGD:1317054 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060232 branchiootic syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootic dysplasia PMID:10464653|PMID:10991693|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:23506628|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26489027|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30655312|PMID:31049720|PMID:9361030 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1317054 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract PMID:10655545 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0080204 renal hypoplasia ISO RGD:1317054 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:28492532 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:7240710 20191106 OMIM 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11734542|PMID:15146463|PMID:15802522|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:23435380|PMID:23506628|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28492532|PMID:28832562|PMID:29500469|PMID:30655312|PMID:30937553|PMID:31049720|PMID:33532864|PMID:5365063|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1317054 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:1598917|PMID:9361030 20061222 RGD 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:10429368|PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12404110|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16491411|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18065799|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:22447252|PMID:23435380|PMID:23508780|PMID:23552953|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28289595|PMID:28492532|PMID:28832562|PMID:29500469|PMID:29966037|PMID:30311386|PMID:30655312|PMID:30937553|PMID:31427586|PMID:33240318|PMID:34031707|PMID:34160378|PMID:35982127|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:8554880|PMID:17637804 20140512 RGD DNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human) 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:8554897|PMID:16491411 20140513 RGD DNA:mutations:exons,introns:multiple 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14766 renal agenesis ISO RGD:1317054 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:35005812 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1682 congenital heart disease ISO RGD:1317054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:630 genetic disease ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29500469|PMID:35982127|PMID:9603436 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1317054 D RGD:8694159|PMID:23107834 20140725 RGD mRNA:increased expression:muscle: 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:83 cataract ISO RGD:1317054 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15146463|PMID:18220287|PMID:24033266|PMID:24123792|PMID:24429398|PMID:25741868|PMID:26489027|PMID:28492532|PMID:29966037|PMID:9361030 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9000096 Lung Agenesis IEP D RGD:8554873|PMID:24528972 20140512 RGD mRNA,protein:decreased expression:lung epithelium: 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:7240710 20200930 OMIM 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15493068|PMID:15802522|PMID:16199547|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30311386|PMID:30655312|PMID:31049720|PMID:33240318|PMID:9359046|PMID:9361030|PMID:9536098 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:7240710 20130221 OMIM 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16797546|PMID:18220287|PMID:18678597|PMID:19951260|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:28492532|PMID:29966037|PMID:30311386|PMID:31049720|PMID:9361030 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317055 D RGD:11561941|PMID:21364285 20221101 RGD 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9004538 Hearing Loss ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:23552953|PMID:24033266|PMID:25741868|PMID:26667035|PMID:28492532|PMID:30311386 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1317054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9006596 Cayler Cardiofacial Syndrome ISO RGD:1317054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 1584849 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 1584883 Ppp1r12c protein phosphatase 1, regulatory subunit 12C gene DOID:630 genetic disease ISO RGD:1343542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584886 Qki QKI, KH domain containing RNA binding gene DOID:3070 high grade glioma ISO RGD:1319346 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26829751 1584886 Qki QKI, KH domain containing RNA binding gene DOID:3213 demyelinating disease ISO RGD:1319346 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:16245024 1584886 Qki QKI, KH domain containing RNA binding gene DOID:630 genetic disease ISO RGD:1319346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584886 Qki QKI, KH domain containing RNA binding gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:10045997|PMID:22740327 20150630 RGD 1584894 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:0050777 Joubert syndrome ISO RGD:2303433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 1584894 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:12849 autistic disorder ISO RGD:2303433 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584894 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:630 genetic disease ISO RGD:2303433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584894 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303433 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584898 Luzp4 leucine zipper protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352485 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584898 Luzp4 leucine zipper protein 4 gene DOID:11476 osteoporosis ISO RGD:1352485 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 1584898 Luzp4 leucine zipper protein 4 gene DOID:12849 autistic disorder ISO RGD:1352485 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584898 Luzp4 leucine zipper protein 4 gene DOID:630 genetic disease ISO RGD:1352485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584901 Spin2b spindlin family member 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603797 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584901 Spin2b spindlin family member 2B gene DOID:12849 autistic disorder ISO RGD:1603797 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584901 Spin2b spindlin family member 2B gene DOID:630 genetic disease ISO RGD:1603797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584914 Lsm10 LSM10, U7 small nuclear RNA associated gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350873 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1584914 Lsm10 LSM10, U7 small nuclear RNA associated gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350873 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 1584914 Lsm10 LSM10, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1350873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584950 Hira histone cell cycle regulator gene DOID:0060041 autism spectrum disorder ISO RGD:1346310 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1584950 Hira histone cell cycle regulator gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1584950 Hira histone cell cycle regulator gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1584950 Hira histone cell cycle regulator gene DOID:0111996 immunodeficiency 51 ISO RGD:1346310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1584950 Hira histone cell cycle regulator gene DOID:10283 prostate cancer ISO RGD:1346310 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1584950 Hira histone cell cycle regulator gene DOID:1059 intellectual disability ISO RGD:1346310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1584950 Hira histone cell cycle regulator gene DOID:11198 DiGeorge syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1584950 Hira histone cell cycle regulator gene DOID:11372 megacolon ISO RGD:1346310 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1584950 Hira histone cell cycle regulator gene DOID:12583 velocardiofacial syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1584950 Hira histone cell cycle regulator gene DOID:12849 autistic disorder ISO RGD:1346310 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584950 Hira histone cell cycle regulator gene DOID:1826 epilepsy ISO RGD:1346310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1584950 Hira histone cell cycle regulator gene DOID:5419 schizophrenia ISO RGD:1346310 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1584950 Hira histone cell cycle regulator gene DOID:612 primary immunodeficiency disease ISO RGD:1346310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1584950 Hira histone cell cycle regulator gene DOID:630 genetic disease ISO RGD:1346310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584950 Hira histone cell cycle regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346310 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584950 Hira histone cell cycle regulator gene DOID:9007661 Dwarfism ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1584950 Hira histone cell cycle regulator gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1584958 Bend5 BEN domain containing 5 gene DOID:10283 prostate cancer ISO RGD:1606228 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1584958 Bend5 BEN domain containing 5 gene DOID:630 genetic disease ISO RGD:1606228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584964 Spaca5 sperm acrosome associated 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346531 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584964 Spaca5 sperm acrosome associated 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1584964 Spaca5 sperm acrosome associated 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1584964 Spaca5 sperm acrosome associated 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1584964 Spaca5 sperm acrosome associated 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1584964 Spaca5 sperm acrosome associated 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346531 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1584964 Spaca5 sperm acrosome associated 5 gene DOID:12849 autistic disorder ISO RGD:1346531 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584964 Spaca5 sperm acrosome associated 5 gene DOID:630 genetic disease ISO RGD:1346531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584968 Cfap221 cilia and flagella associated protein 221 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31636325 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1342972 D RGD:126925209|PMID:16676365 20210816 RGD DNA:mutations 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1342972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:1332211 D RGD:10047095|PMID:18591368 20150708 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080006 bone development disease ISO RGD:1342972 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1342972 D RGD:11038814|PMID:21481795 20160226 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1342972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:10988075|PMID:11423618|PMID:11567109|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12576318|PMID:12623848|PMID:12663457|PMID:12783380|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:15510211|PMID:17008892|PMID:17114651|PMID:17189410|PMID:18223278|PMID:18354488|PMID:18615627|PMID:18757400|PMID:18828913|PMID:19164531|PMID:19264234|PMID:19466505|PMID:19557636|PMID:19652056|PMID:19768693|PMID:19811824|PMID:20010464|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20557306|PMID:20607847|PMID:20697894|PMID:20702476|PMID:20963643|PMID:21221851|PMID:21489624|PMID:21505103|PMID:21509757|PMID:21562040|PMID:21605905|PMID:21762985|PMID:21872826|PMID:21888027|PMID:21895409|PMID:22210874|PMID:22306673|PMID:22772060|PMID:22870928|PMID:22912393|PMID:23355941|PMID:23540562|PMID:23575252|PMID:23676790|PMID:24109527|PMID:24236021|PMID:24456693|PMID:25152116|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:31775759 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1342972 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1342972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:25741868 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10534 stomach cancer ISO RGD:1342972 D RGD:126908003|PMID:31396300 20210524 RGD human cells in mouse model; associated with mental depression; protein:increased expression, increased phosphorylation:stomach (human) 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1332211 D RGD:8693570|PMID:19700222 20140716 RGD protein:increased expression:brain: 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:1342972 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33223528 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:11476 osteoporosis ISO RGD:1332211 D RGD:10047094|PMID:10700189 20150708 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease IEP D RGD:8693592|PMID:24412932 20140716 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1332211 D RGD:8693592|PMID:24412932 20140716 RGD protein:increased expression:brain: 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1342972 D RGD:8693409|PMID:20823226 20140715 RGD protein:increased phosphorylation:striatum: 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14504 Niemann-Pick disease ISO RGD:1332211 D RGD:8693571|PMID:20883783 20140716 RGD protein:increased expression:cerebellum: 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1596 depressive disorder ISO RGD:1332211 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased expression, increased phosphorylation:hippocampus (mouse) 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1682 congenital heart disease ISO RGD:1342972 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1682 congenital heart disease ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:1342972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342972 D RGD:126925226|PMID:26758680 20210816 RGD human cells in mouse model 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1342972 D RGD:126925218|PMID:21472143 20210515 RGD DNA:SNP:3'utr: (rs4740363) (human) 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5199 ureteral obstruction IEP D RGD:8693572|PMID:15629889 20140716 RGD protein:increased activity:kidney: 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11569495|PMID:11853795|PMID:12399961|PMID:12623848|PMID:14745431|PMID:19164531|PMID:19264234|PMID:19811824|PMID:21489624|PMID:23676790|PMID:24236021|PMID:25157968|PMID:31775759 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:28492532 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1332211 D RGD:126907997|PMID:32171747 20210506 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:15604220|PMID:18673174|PMID:21908430|PMID:33070465 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:13674161|PMID:25133686 20180710 RGD DNA:gene fusion 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:14392796|PMID:12067277 20160226 RGD DNA:gene fusion 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:7240710 20190821 OMIM 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABL1-Related Disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib PMID:10988075|PMID:11423618|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:12663457|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:33783941 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1342972 D RGD:1598673|PMID:3021820 20061211 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:11038807|PMID:23289634 20160226 RGD DNA:missense mutations: :multiple 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:11038814|PMID:21481795 20160226 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1342972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9001276 Failure to Thrive ISO RGD:1342972 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1342972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:10988075|PMID:11423618|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1342972 D RGD:11038811|PMID:11559572 20160226 RGD DNA:hypermethylation:promoter 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1342972 D RGD:11038809|PMID:19344397 20160226 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:7240710 20200910 OMIM 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838|PMID:33223528|PMID:33783941 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342972 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342972 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:1342972 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:1342972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23968727 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment IMP D RGD:8693418|PMID:18559370 20140715 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1332211 D RGD:8693418|PMID:18559370 20140715 RGD 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20234815 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342972 D RGD:10450603|PMID:12161353 20160119 RGD DNA:translocation: : 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342972 D RGD:126908002|PMID:32850446 20210506 RGD human gene in mouse model 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342972 D RGD:126908002|PMID:32850446 20210506 RGD mRNA, protein:increased expression:colorectum (human) 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9273 citrullinemia ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 1584969 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1342972 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:11984797|PMID:21898527 1584973 Plxna3 plexin A3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1584973 Plxna3 plexin A3 gene DOID:0050476 Barth syndrome ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1584973 Plxna3 plexin A3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1584973 Plxna3 plexin A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349180 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1584973 Plxna3 plexin A3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1349180 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1584973 Plxna3 plexin A3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349180 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 1584973 Plxna3 plexin A3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349180 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1584973 Plxna3 plexin A3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1584973 Plxna3 plexin A3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1584973 Plxna3 plexin A3 gene DOID:12849 autistic disorder ISO RGD:1349180 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584973 Plxna3 plexin A3 gene DOID:13628 favism ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1584973 Plxna3 plexin A3 gene DOID:1921 Klinefelter syndrome ISO RGD:1349180 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 1584973 Plxna3 plexin A3 gene DOID:1923 disorder of sexual development ISO RGD:1349180 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1584973 Plxna3 plexin A3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1584973 Plxna3 plexin A3 gene DOID:607 paraplegia ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1584973 Plxna3 plexin A3 gene DOID:630 genetic disease ISO RGD:1349180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584973 Plxna3 plexin A3 gene DOID:9002720 Splenomegaly ISO RGD:1349180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1584973 Plxna3 plexin A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349180 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584973 Plxna3 plexin A3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1349180 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1584973 Plxna3 plexin A3 gene DOID:9007661 Dwarfism ISO RGD:1349180 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1584973 Plxna3 plexin A3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1349180 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 1584977 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:3042 allergic contact dermatitis ISO RGD:1352353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 1584977 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:630 genetic disease ISO RGD:1352353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584977 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 1584977 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19764029 1584977 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:1352353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0050777 Joubert syndrome ISO RGD:1349356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18674751|PMID:23153492|PMID:24033266|PMID:25741868|PMID:27153923|PMID:28492532|PMID:31846650 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0080074 neural tube defect ISO RGD:1557633 D RGD:11553935|PMID:17488627 20161018 RGD DNA:transversion:intron:IVS2+2T>G (mouse) 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:11553937|PMID:18674751 20161018 RGD DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human) 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:7240710 20130221 OMIM 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:16199547|PMID:17576681|PMID:18674751|PMID:24033266|PMID:25138100|PMID:25741868|PMID:26092869|PMID:26132555|PMID:28492532|PMID:28787594|PMID:29255182|PMID:9536098 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:2451 protein S deficiency ISO RGD:1349356 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:2843 long QT syndrome ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:2975 cystic kidney disease ISO RGD:1557633 D RGD:11553938|PMID:27153923 20161018 RGD 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:630 genetic disease ISO RGD:1349356 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25138100|PMID:25741868|PMID:28492532|PMID:28787594 1584979 Arl13b ADP-ribosylation factor like GTPase 13B gene DOID:9970 obesity ISO RGD:1557633 D RGD:11553936|PMID:22581473 20161018 RGD protein:decreased expression:hypothalamus, cilium (mouse) 1584985 Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346743 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1584985 Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1346743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:22510846|PMID:23453023|PMID:24504883|PMID:28492532 1584985 Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 gene DOID:12849 autistic disorder ISO RGD:1346743 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1584985 Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 gene DOID:630 genetic disease ISO RGD:1346743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584985 Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346743 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584991 Crygb crystallin, gamma B gene DOID:0110236 cataract 39 multiple types ISO RGD:1347974 D RGD:7240710 20140911 OMIM 1584991 Crygb crystallin, gamma B gene DOID:0110236 cataract 39 multiple types ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 39 multiple types PMID:23288985|PMID:25741868|PMID:28492532 1584991 Crygb crystallin, gamma B gene DOID:14557 primary pulmonary hypertension ISO RGD:1347974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1584991 Crygb crystallin, gamma B gene DOID:630 genetic disease ISO RGD:1347974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1584991 Crygb crystallin, gamma B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347974 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584992 Pard3b par-3 family cell polarity regulator beta gene DOID:14557 primary pulmonary hypertension ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1584992 Pard3b par-3 family cell polarity regulator beta gene DOID:5419 schizophrenia ISO RGD:1312545 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1584992 Pard3b par-3 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1312545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1584992 Pard3b par-3 family cell polarity regulator beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312545 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1584992 Pard3b par-3 family cell polarity regulator beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312545 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1344499 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0060464 Feingold syndrome ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19852433|PMID:21532573 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0060464 Feingold syndrome ISO RGD:1344499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:20301770|PMID:21224895|PMID:25741868|PMID:28492532|PMID:30573562|PMID:30655312 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:1059 intellectual disability ISO RGD:1344499 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:13938 amenorrhea ISO RGD:1344499 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:1657 ventricular septal defect ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:1344499 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:2513 basal cell carcinoma ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:1344499 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:363 uterine cancer ISO RGD:1344499 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1344499 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:5419 schizophrenia ISO RGD:1344499 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344499 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:5723 optic atrophy ISO RGD:1344499 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1344499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:21224895|PMID:28492532 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:6406 double outlet right ventricle ISO RGD:1344499 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:25741868 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:1344499 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:16051641|PMID:16989911|PMID:17283129|PMID:18353067|PMID:22286764|PMID:22789543|PMID:23042116|PMID:23334666|PMID:23500671|PMID:25174395|PMID:26523776|PMID:26733615|PMID:29379199|PMID:30127528 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:1344499 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26619011 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9000674 Agenesis of Gallbladder ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gallbladder, agenesis of PMID:25741868 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9002221 Hyperplasia ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9004844 Feingold Syndrome 1 ISO RGD:1344499 D RGD:7240710 20180704 OMIM 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9005749 Necrosis ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21214410 1584995 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22286764 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0050444 infantile Refsum disease ISO RGD:1350248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0050444 infantile Refsum disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1350248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1350248 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:16257970|PMID:25741868|PMID:28492532 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:7240710 20140911 OMIM 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:17336976|PMID:17576681|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25640679|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:32140910|PMID:32552793|PMID:9090381|PMID:9536098 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1350248 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 PMID:28492532 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1350248 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868|PMID:28492532 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:11198 DiGeorge syndrome ISO RGD:1350248 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:630 genetic disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:7240710 20140911 OMIM 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350248 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:905 Zellweger syndrome ISO RGD:1350248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851857|PMID:26319495 1584998 Pex26 peroxisomal biogenesis factor 26 gene DOID:905 Zellweger syndrome ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 1585012 Osm oncostatin M gene DOID:0080600 COVID-19 ISO RGD:69134 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1585012 Osm oncostatin M gene DOID:2773 contact dermatitis ISO RGD:69134 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1585012 Osm oncostatin M gene DOID:3587 pancreatic ductal carcinoma ISO RGD:69134 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 1585012 Osm oncostatin M gene DOID:630 genetic disease ISO RGD:69134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585012 Osm oncostatin M gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69134 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1585012 Osm oncostatin M gene DOID:9000965 Neoplasm Metastasis ISO RGD:69134 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937440 1585012 Osm oncostatin M gene DOID:9001341 Chloracne ISO RGD:69134 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1585012 Osm oncostatin M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69134 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17640959 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1607015 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28317099|PMID:31230720 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:7240710 20200805 OMIM 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:28317099|PMID:5491443 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:10908 hydrocephalus ISO RGD:1607015 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:630 genetic disease ISO RGD:1607015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006836 Contracture ISO RGD:1607015 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1585015 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 1585016 Adam22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:7240710 20190315 OMIM 1585016 Adam22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 PMID:25741868|PMID:27066583|PMID:28492532|PMID:30237576 1585016 Adam22 ADAM metallopeptidase domain 22 gene DOID:1826 epilepsy ISO RGD:1352892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1585016 Adam22 ADAM metallopeptidase domain 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1585016 Adam22 ADAM metallopeptidase domain 22 gene DOID:630 genetic disease ISO RGD:1352892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585016 Adam22 ADAM metallopeptidase domain 22 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1352892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 1585017 Adam19 ADAM metallopeptidase domain 19 gene DOID:1682 congenital heart disease ISO RGD:735924 D RGD:1559267|PMID:14673146 20070410 RGD 1585017 Adam19 ADAM metallopeptidase domain 19 gene DOID:1749 squamous cell carcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 1585017 Adam19 ADAM metallopeptidase domain 19 gene DOID:3910 lung adenocarcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 1585017 Adam19 ADAM metallopeptidase domain 19 gene DOID:5199 ureteral obstruction ISO RGD:735924 D RGD:13703030|PMID:24103556 20180726 RGD 1585017 Adam19 ADAM metallopeptidase domain 19 gene DOID:630 genetic disease ISO RGD:735923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585019 Foxb2 forkhead box B2 gene DOID:630 genetic disease ISO RGD:1605769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1348543 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:11061906|PMID:26373698 20221118 RGD DNA:frameshift mutations, missense mutations:CDS:multiple (human) 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20004762|PMID:20842734 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:155663488|PMID:20004762 20221118 RGD DNA:missense mutations, deletion:CDS:multiple (human) 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:7240710 20130221 OMIM 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:10766984|PMID:11370633|PMID:1184396|PMID:12508273|PMID:16158441|PMID:20004762|PMID:20503305|PMID:20533528|PMID:20842734|PMID:21744491|PMID:2202212|PMID:22581468|PMID:25188385|PMID:25348902|PMID:25741868|PMID:26373698|PMID:26872206|PMID:26925854|PMID:28238810|PMID:28306225|PMID:28346368|PMID:28492532|PMID:31905796|PMID:32214361|PMID:32629534|PMID:9084938 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:11836 clubfoot ISO RGD:1348543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25188385|PMID:25741868|PMID:28492532|PMID:32214361 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:2717 Bloom syndrome ISO RGD:1348543 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:630 genetic disease ISO RGD:1348543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9001553 Spinal Cord Compression exacerbates ISO RGD:1619123 D RGD:155663489|PMID:26586562 20221118 RGD 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348543 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9004014 Adducted Thumbs Syndrome ISO RGD:1348543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348543 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9005077 Joint Instability ISO RGD:1348543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 1585023 Chst14 carbohydrate sulfotransferase 14 gene DOID:9256 colorectal cancer ISO RGD:1348543 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1585024 Oxa1l OXA1L, mitochondrial inner membrane protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316768 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:18716612 1585024 Oxa1l OXA1L, mitochondrial inner membrane protein gene DOID:10283 prostate cancer ISO RGD:1316768 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1585024 Oxa1l OXA1L, mitochondrial inner membrane protein gene DOID:2661 myoepithelioma ISO RGD:1316768 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1585024 Oxa1l OXA1L, mitochondrial inner membrane protein gene DOID:630 genetic disease ISO RGD:1316768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585024 Oxa1l OXA1L, mitochondrial inner membrane protein gene DOID:700 mitochondrial metabolism disease ISO RGD:1316768 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30201738 1585024 Oxa1l OXA1L, mitochondrial inner membrane protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316768 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1585035 Hus1b HUS1 checkpoint clamp component B gene DOID:630 genetic disease ISO RGD:1346290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585035 Hus1b HUS1 checkpoint clamp component B gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1346290 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 1585037 Psrc1 proline and serine rich coiled-coil 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1585037 Psrc1 proline and serine rich coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1606488 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585037 Psrc1 proline and serine rich coiled-coil 1 gene DOID:3393 coronary artery disease ISO RGD:1606488 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 1585037 Psrc1 proline and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1606488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585038 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:1826 epilepsy ISO RGD:1351476 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1585038 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1351476 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1585038 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:630 genetic disease ISO RGD:1351476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585038 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1351476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1585038 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 1585038 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1351476 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1585042 Serpine3 serpin family E member 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2301110 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1585042 Serpine3 serpin family E member 3 gene DOID:1059 intellectual disability ISO RGD:2301110 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585042 Serpine3 serpin family E member 3 gene DOID:630 genetic disease ISO RGD:2301110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585042 Serpine3 serpin family E member 3 gene DOID:893 Wilson disease ISO RGD:2301110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 1585055 Mansc4 MANSC domain containing 4 gene DOID:630 genetic disease ISO RGD:5132067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:0050144 Kartagener syndrome ISS RGD:1617356 D RGD:13592920 20180518 MouseDO 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:0050545 visceral heterotaxy ISS RGD:1617356 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:630 genetic disease ISO RGD:1606706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1585063 LOC691354 hypothetical protein LOC691354 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1617356 D RGD:13592920 20180518 MouseDO 1585082 Septin6 septin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1316585 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1585082 Septin6 septin 6 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1585082 Septin6 septin 6 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1585082 Septin6 septin 6 gene DOID:12849 autistic disorder ISO RGD:1316585 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585082 Septin6 septin 6 gene DOID:630 genetic disease ISO RGD:1316585 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1319620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:25741868 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319620 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:10283 prostate cancer ISO RGD:1319620 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:1059 intellectual disability ISO RGD:1319620 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1319620 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:630 genetic disease ISO RGD:1319620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:9003882 Chromosomal Instability ISO RGD:1319620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319620 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1319620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 1585097 Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma gene DOID:9008086 Developmental Disabilities ISO RGD:1319620 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Global developmental delay 1585098 Draxin dorsal inhibitory axon guidance protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1585098 Draxin dorsal inhibitory axon guidance protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1585098 Draxin dorsal inhibitory axon guidance protein gene DOID:0080600 COVID-19 ISO RGD:1605526 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1585098 Draxin dorsal inhibitory axon guidance protein gene DOID:14330 Parkinson's disease ISO RGD:1605526 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 1585098 Draxin dorsal inhibitory axon guidance protein gene DOID:630 genetic disease ISO RGD:1605526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585098 Draxin dorsal inhibitory axon guidance protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1605526 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1585106 Lrrc39 leucine rich repeat containing 39 gene DOID:630 genetic disease ISO RGD:1606975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585106 Lrrc39 leucine rich repeat containing 39 gene DOID:9269 maple syrup urine disease ISO RGD:1606975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1585107 Tmem202 transmembrane protein 202 gene DOID:0110225 Brugada syndrome 8 ISO RGD:2289768 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 1585107 Tmem202 transmembrane protein 202 gene DOID:2717 Bloom syndrome ISO RGD:2289768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1585107 Tmem202 transmembrane protein 202 gene DOID:3320 Tay-Sachs disease ISO RGD:2289768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 1585107 Tmem202 transmembrane protein 202 gene DOID:630 genetic disease ISO RGD:2289768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585107 Tmem202 transmembrane protein 202 gene DOID:9256 colorectal cancer ISO RGD:2289768 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1585128 Bcl7a BAF chromatin remodeling complex subunit BCL7A gene DOID:630 genetic disease ISO RGD:1319851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585131 Pwwp4 PWWP domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:16568676 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1585131 Pwwp4 PWWP domain containing 4 gene DOID:12849 autistic disorder ISO RGD:16568676 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585134 Tex38 testis expressed 38 gene DOID:630 genetic disease ISO RGD:2298822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585137 Cd300e Cd300e molecule gene DOID:630 genetic disease ISO RGD:1605230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:0080716 infantile liver failure syndrome ISO RGD:1604810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome PMID:24033266|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:0080778 transient infantile liver failure ISO RGD:1604810 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:30825388|PMID:31761904|PMID:33042920 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:13938 amenorrhea ISO RGD:1604810 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:5419 schizophrenia ISO RGD:1604810 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:630 genetic disease ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9000217 Stomach Neoplasms ISO RGD:1604810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9000918 Disease Progression ISO RGD:1604810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:7240710 20140911 OMIM 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:16199547|PMID:17576681|PMID:20577004|PMID:24033266|PMID:24884844|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28115293|PMID:28425089|PMID:28492532|PMID:30542205|PMID:30825388|PMID:31761904|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34386911|PMID:9536098 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1604810 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9004590 Acute Liver Failure ISO RGD:1604810 D RGD:25671408|PMID:26541327 20200427 RGD DNA:mutations:multiple 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:7240710 20171011 OMIM 1585140 Nbas NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:16199547|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:28576691|PMID:30558828|PMID:30825388|PMID:31761904|PMID:32313153|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34298581|PMID:34386911 1585145 Tatdn1 TatD DNase domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313148 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1585145 Tatdn1 TatD DNase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585145 Tatdn1 TatD DNase domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313148 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1585162 Tpmt thiopurine S-methyltransferase gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1350168 D RGD:11038726|PMID:17026564 20160223 RGD 1585162 Tpmt thiopurine S-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1350168 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1585162 Tpmt thiopurine S-methyltransferase gene DOID:0080172 thiopurine S-methyltransferase deficiency ISO RGD:1350168 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1585162 Tpmt thiopurine S-methyltransferase gene DOID:0080172 thiopurine S-methyltransferase deficiency ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency PMID:10208641|PMID:10751626|PMID:15819814|PMID:16476125|PMID:17885628|PMID:1960624|PMID:7862671|PMID:8561894|PMID:8644731|PMID:9177237|PMID:9246020|PMID:9931345|PMID:9931346 1585162 Tpmt thiopurine S-methyltransferase gene DOID:1227 neutropenia ISO RGD:1350168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 1585162 Tpmt thiopurine S-methyltransferase gene DOID:3534 Lafora disease ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:15781812|PMID:17389303|PMID:23317923|PMID:28492532 1585162 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:11038721|PMID:16044099 20160223 RGD 1585162 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:11038725|PMID:24322830 20160223 RGD 1585162 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:11038727|PMID:20308917 20160223 RGD DNA:SNP:exon:719A>G (human) 1585162 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18662289|PMID:22535280|PMID:25108385 1585162 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia no_association ISO RGD:1350168 D RGD:11038727|PMID:20308917 20160223 RGD DNA:polymorphisms: :multiple 1585162 Tpmt thiopurine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1350168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9004283 Transplant Rejection ISO RGD:1350168 D RGD:11038722|PMID:24121523 20160223 RGD 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9006969 Poor Metabolism of Thiopurines, 1 ISO RGD:1350168 D RGD:7240710 20190327 OMIM 1585162 Tpmt thiopurine S-methyltransferase gene DOID:987 alopecia ISO RGD:1350168 D RGD:11038725|PMID:24322830 20160223 RGD 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:10766474|PMID:22009189 20160223 RGD DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:11038723|PMID:24499706 20160223 RGD DNA:SNPs: :multiple 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:10766474|PMID:22009189 20160223 RGD DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) 1585162 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:11038720|PMID:17164697 20160223 RGD DNA:SNPs:multiple 1585168 Rnf168 ring finger protein 168 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1347950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1585168 Rnf168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:7240710 20130221 OMIM 1585168 Rnf168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RIDDLE syndrome PMID:19203578|PMID:21394101|PMID:24033266|PMID:25741868|PMID:28492532 1585168 Rnf168 ring finger protein 168 gene DOID:12849 autistic disorder ISO RGD:1347950 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585168 Rnf168 ring finger protein 168 gene DOID:1749 squamous cell carcinoma ISO RGD:1347950 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 1585168 Rnf168 ring finger protein 168 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347950 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 1585168 Rnf168 ring finger protein 168 gene DOID:5419 schizophrenia ISO RGD:1347950 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1585168 Rnf168 ring finger protein 168 gene DOID:630 genetic disease ISO RGD:1347950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1585168 Rnf168 ring finger protein 168 gene DOID:9000918 Disease Progression ISO RGD:1347950 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 1585173 Bag2 BAG cochaperone 2 gene DOID:0060234 Carpenter syndrome ISO RGD:1343744 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome 1585173 Bag2 BAG cochaperone 2 gene DOID:630 genetic disease ISO RGD:1343744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585173 Bag2 BAG cochaperone 2 gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1343744 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 1585174 Izumo1r IZUMO1 receptor, JUNO gene DOID:1059 intellectual disability ISO RGD:2303851 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585174 Izumo1r IZUMO1 receptor, JUNO gene DOID:630 genetic disease ISO RGD:2303851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1323087 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1323087 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0050777 Joubert syndrome ISO RGD:1323087 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0050778 Meckel syndrome ISO RGD:1323087 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1323087 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:7240710 20170412 OMIM 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:7240710 20161109 OMIM 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:16199547|PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25954003|PMID:26026149|PMID:2609613|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:26938784|PMID:27618451|PMID:28125082|PMID:28490743|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:1148 polydactyly ISO RGD:1323087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:630 genetic disease ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:27618451|PMID:28490743|PMID:28492532 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:8501 fundus dystrophy ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 1585176 LOC690035 similar to Protein KIAA0586 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 1585179 Wdr4 WD repeat domain 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1585179 Wdr4 WD repeat domain 4 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1320425 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:30079490 1585179 Wdr4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:7240710 20190315 OMIM 1585179 Wdr4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations PMID:25741868|PMID:26416026|PMID:28492532 1585179 Wdr4 WD repeat domain 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1585179 Wdr4 WD repeat domain 4 gene DOID:630 genetic disease ISO RGD:1320425 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1585179 Wdr4 WD repeat domain 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320425 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1585179 Wdr4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:7240710 20190315 OMIM 1585179 Wdr4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 PMID:25741868|PMID:26416026|PMID:28492532|PMID:28617965|PMID:29597095|PMID:30079490 1585179 Wdr4 WD repeat domain 4 gene DOID:9263 homocystinuria ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1585179 Wdr4 WD repeat domain 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1585183 Il31 interleukin 31 gene DOID:3310 atopic dermatitis ISO RGD:1353267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 1585183 Il31 interleukin 31 gene DOID:630 genetic disease ISO RGD:1353267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585203 Zcchc3 zinc finger CCHC-type containing 3 gene DOID:630 genetic disease ISO RGD:1352502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585203 Zcchc3 zinc finger CCHC-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352502 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585208 LOC690000 similar to CG3740-PA gene DOID:0050952 spastic ataxia ISO RGD:1319491 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1585208 LOC690000 similar to CG3740-PA gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21981780|PMID:22584950|PMID:23269600|PMID:23436634|PMID:23857908|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:33607528|PMID:34284285 1585208 LOC690000 similar to CG3740-PA gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:7240710 20140903 OMIM 1585208 LOC690000 similar to CG3740-PA gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:28347615|PMID:28492532|PMID:28641177|PMID:29295770|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:32581362|PMID:33607528|PMID:34284285|PMID:9536098 1585208 LOC690000 similar to CG3740-PA gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:7240710 20140911 OMIM 1585208 LOC690000 similar to CG3740-PA gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31804703|PMID:33607528|PMID:34284285|PMID:9536098 1585208 LOC690000 similar to CG3740-PA gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319491 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:21981780|PMID:25741868|PMID:28492532 1585208 LOC690000 similar to CG3740-PA gene DOID:1289 neurodegenerative disease ISO RGD:1319491 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:21981780|PMID:24361204|PMID:25558065|PMID:28492532|PMID:28832565|PMID:31087512 1585208 LOC690000 similar to CG3740-PA gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21981780|PMID:23269600|PMID:24361204|PMID:25558065|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013 1585208 LOC690000 similar to CG3740-PA gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 1585208 LOC690000 similar to CG3740-PA gene DOID:543 dystonia ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 1585208 LOC690000 similar to CG3740-PA gene DOID:630 genetic disease ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585208 LOC690000 similar to CG3740-PA gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 1585208 LOC690000 similar to CG3740-PA gene DOID:9008086 Developmental Disabilities ISO RGD:1319491 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891 1585218 Pmp2 peripheral myelin protein 2 gene DOID:0111560 Charcot-Marie-Tooth disease type 1G ISO RGD:1316684 D RGD:7240710 20190315 OMIM 1585218 Pmp2 peripheral myelin protein 2 gene DOID:0111560 Charcot-Marie-Tooth disease type 1G ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G PMID:23806086|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537 1585218 Pmp2 peripheral myelin protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23806086|PMID:24088041|PMID:26257172|PMID:26828946|PMID:28492532|PMID:28747762 1585218 Pmp2 peripheral myelin protein 2 gene DOID:630 genetic disease ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537 1585218 Pmp2 peripheral myelin protein 2 gene DOID:870 neuropathy ISO RGD:1316684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23806086|PMID:24088041|PMID:26257172|PMID:26828946|PMID:28492532|PMID:28747762 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:0080490 mucolipidosis type IV ISO RGD:5135069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:5135069 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:630 genetic disease ISO RGD:5135069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:5135069 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:5135069 D RGD:7240710 20201111 OMIM 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:5135069 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 1585222 Pet100 PET100 cytochrome c oxidase chaperone gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 1585223 Trim8 tripartite motif-containing 8 gene DOID:0050701 electroclinical syndrome ISO RGD:1319835 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: TRIM8-related epileptic encephalopathy PMID:25741868|PMID:30244534|PMID:33508234 1585223 Trim8 tripartite motif-containing 8 gene DOID:1826 epilepsy ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30244534|PMID:32193649|PMID:33508234 1585223 Trim8 tripartite motif-containing 8 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 1585223 Trim8 tripartite motif-containing 8 gene DOID:630 genetic disease ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30244534|PMID:33508234 1585223 Trim8 tripartite motif-containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:7240710 20210818 OMIM 1585223 Trim8 tripartite motif-containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome PMID:25741868|PMID:27346735|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159 1585230 Aldh3b3 aldehyde dehydrogenase 3 family, member B3 gene DOID:0060041 autism spectrum disorder ISO RGD:1318187 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1585230 Aldh3b3 aldehyde dehydrogenase 3 family, member B3 gene DOID:1059 intellectual disability ISO RGD:1318187 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585230 Aldh3b3 aldehyde dehydrogenase 3 family, member B3 gene DOID:630 genetic disease ISO RGD:1318187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585230 Aldh3b3 aldehyde dehydrogenase 3 family, member B3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318187 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1585230 Aldh3b3 aldehyde dehydrogenase 3 family, member B3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1585231 Grpel2 GrpE-like 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1585231 Grpel2 GrpE-like 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585231 Grpel2 GrpE-like 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342740 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585231 Grpel2 GrpE-like 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1585243 LOC688765 hypothetical protein LOC688765 gene DOID:630 genetic disease ISO RGD:2304146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585251 Tmem200b transmembrane protein 200B gene DOID:630 genetic disease ISO RGD:1606080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585259 Tulp3 TUB like protein 3 gene DOID:0080322 polycystic kidney disease ISS RGD:1557674 D RGD:13592920 20200312 MouseDO 1585259 Tulp3 TUB like protein 3 gene DOID:630 genetic disease ISO RGD:1348382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35397207 1585259 Tulp3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:7240710 20220810 OMIM 1585259 Tulp3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS PMID:25741868|PMID:35397207 1585259 Tulp3 TUB like protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348382 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1585259 Tulp3 TUB like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348382 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 1585262 Hdhd3 haloacid dehalogenase-like hydrolase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585271 Gpr171 G protein-coupled receptor 171 gene DOID:0050579 glycogen storage disease XV ISO RGD:1353149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1585271 Gpr171 G protein-coupled receptor 171 gene DOID:630 genetic disease ISO RGD:1353149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585272 Matcap1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:2302259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1585272 Matcap1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:2302259 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1585272 Matcap1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:2302259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585277 Gpr84 G protein-coupled receptor 84 gene DOID:630 genetic disease ISO RGD:1323208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585286 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1350359 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585286 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:1350359 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:19306334|PMID:25741868|PMID:28492532 1585286 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1350359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585286 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350359 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1585286 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1585290 Slirp SRA stem-loop interacting RNA binding protein gene DOID:630 genetic disease ISO RGD:1323602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585290 Slirp SRA stem-loop interacting RNA binding protein gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1323602 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy 1585322 Tmem217 transmembrane protein 217 gene DOID:630 genetic disease ISO RGD:1343464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585333 Wdr87l1 WD repeat domain 87 like 1 gene DOID:630 genetic disease ISO RGD:1602453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1585380 Dtx1 deltex E3 ubiquitin ligase 1 gene DOID:3181 oligodendroglioma ISO RGD:1353899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 1585380 Dtx1 deltex E3 ubiquitin ligase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 1585380 Dtx1 deltex E3 ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585399 Acp7 acid phosphatase 7, tartrate resistant gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1585399 Acp7 acid phosphatase 7, tartrate resistant gene DOID:630 genetic disease ISO RGD:1604436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585399 Acp7 acid phosphatase 7, tartrate resistant gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1585413 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:1059 intellectual disability ISO RGD:1349000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585413 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:12336 male infertility ISS RGD:1616750 D RGD:13592920 20180518 MouseDO 1585413 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:630 genetic disease ISO RGD:1349000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585413 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 1585423 Ttc39c tetratricopeptide repeat domain 39C gene DOID:1059 intellectual disability ISO RGD:1345290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585423 Ttc39c tetratricopeptide repeat domain 39C gene DOID:630 genetic disease ISO RGD:1345290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602382 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:5812 MHC class II deficiency ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:630 genetic disease ISO RGD:1602382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585456 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602382 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1585459 Fam47e family with sequence similarity 47, member E gene DOID:630 genetic disease ISO RGD:2302124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585459 Fam47e family with sequence similarity 47, member E gene DOID:891 progressive myoclonus epilepsy ISO RGD:2302124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 1585459 Fam47e family with sequence similarity 47, member E gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:2302124 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1585467 Hmcn2 hemicentin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1626387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1585474 Lce1e late cornified envelope 1E gene DOID:0111940 immunodeficiency 42 ISO RGD:1342802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1585474 Lce1e late cornified envelope 1E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1342802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1585474 Lce1e late cornified envelope 1E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1342802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1585474 Lce1e late cornified envelope 1E gene DOID:1540 parathyroid carcinoma ISO RGD:1342802 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1585474 Lce1e late cornified envelope 1E gene DOID:5812 MHC class II deficiency ISO RGD:1342802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1585474 Lce1e late cornified envelope 1E gene DOID:630 genetic disease ISO RGD:1342802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585474 Lce1e late cornified envelope 1E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342802 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:0060041 autism spectrum disorder ISO RGD:1342590 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:10923 sickle cell anemia ISO RGD:1342590 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:12849 autistic disorder ISO RGD:1342590 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:1928 Williams-Beuren syndrome ISO RGD:1342590 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342590 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:5419 schizophrenia ISO RGD:1342590 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:8445 intestinal volvulus ISO RGD:1342590 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342590 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585479 Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1342590 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1585482 Meis1 Meis homeobox 1 gene DOID:0050425 restless legs syndrome ISO RGD:1315277 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:17637780|PMID:28604731 1585482 Meis1 Meis homeobox 1 gene DOID:114 heart disease ISO RGD:1315277 D RGD:11554891|PMID:26597775 20221027 RGD mRNA, protein:decreased expression:heart (human) 1585482 Meis1 Meis homeobox 1 gene DOID:630 genetic disease ISO RGD:1315277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585482 Meis1 Meis homeobox 1 gene DOID:9003936 Cardiomegaly ISO RGD:1550525 D RGD:11554891|PMID:26597775 20221027 RGD mRNA, protein:decreased expression:heart (mouse) 1585482 Meis1 Meis homeobox 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1315277 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28604731 1585482 Meis1 Meis homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315277 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 1585494 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1585494 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1585494 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1601810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1585494 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:630 genetic disease ISO RGD:1601810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585494 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601810 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1585494 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 1585495 Frg1 FSHD region gene 1 gene DOID:0111192 facioscapulohumeral muscular dystrophy 1 ISO RGD:1320772 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1585495 Frg1 FSHD region gene 1 gene DOID:2229 factor XI deficiency ISO RGD:1320772 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 1585495 Frg1 FSHD region gene 1 gene DOID:630 genetic disease ISO RGD:1320772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585495 Frg1 FSHD region gene 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320772 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585495 Frg1 FSHD region gene 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320772 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 1585506 Smim10 small integral membrane protein 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5488264 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1585506 Smim10 small integral membrane protein 10 gene DOID:12849 autistic disorder ISO RGD:5488264 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585506 Smim10 small integral membrane protein 10 gene DOID:630 genetic disease ISO RGD:5488264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585566 Ttc32 tetratricopeptide repeat domain 32 gene DOID:630 genetic disease ISO RGD:1605580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585568 H4f3 H1.3 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343145 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585577 LOC684819 similar to H3 histone, family 2 isoform 2 gene DOID:3070 high grade glioma ISO RGD:1322682 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:26619011 1585577 LOC684819 similar to H3 histone, family 2 isoform 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322682 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 1585585 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:0050933 ovarian serous carcinoma susceptibility ISO RGD:1605662 D RGD:14348955|PMID:29979793 20190201 RGD DNA:SNP:intron:rs10788679(human) 1585585 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1585585 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:3307 teratoma ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1585585 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:6212 ovarian endometrial cancer susceptibility ISO RGD:1605662 D RGD:14348955|PMID:29979793 20190201 RGD DNA:SNP: :rs2256787(human) 1585585 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:630 genetic disease ISO RGD:1605662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585585 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605662 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1585595 Smap1 small ArfGAP 1 gene DOID:630 genetic disease ISO RGD:1347252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585601 Jmy junction mediating and regulatory protein, p53 cofactor gene DOID:630 genetic disease ISO RGD:1603907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585601 Jmy junction mediating and regulatory protein, p53 cofactor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603907 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585624 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1585624 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1349274 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1585624 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:630 genetic disease ISO RGD:1349274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585624 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1585624 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349274 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1585624 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1585671 Tead4 TEA domain transcription factor 4 gene DOID:630 genetic disease ISO RGD:1605719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585671 Tead4 TEA domain transcription factor 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605719 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1353996 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:7240710 20190315 OMIM 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 7 PMID:25741868|PMID:28492532|PMID:29566152|PMID:31042289 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:7240710 20130731 OMIM 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia PMID:17576681|PMID:17873122|PMID:18539099|PMID:21189481|PMID:25663021|PMID:25741868|PMID:28492532|PMID:28752220|PMID:29096039|PMID:31683770|PMID:9536098 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1353996 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:28492532|PMID:29566152 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1353996 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353996 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:29566152|PMID:31042289 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:630 genetic disease ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:28492532|PMID:29566152 1585674 Mrps22 mitochondrial ribosomal protein S22 gene DOID:9008939 Breast Neoplasms ISO RGD:1353996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1585679 Ppp1r42 protein phosphatase 1, regulatory subunit 42 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1606658 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 1585679 Ppp1r42 protein phosphatase 1, regulatory subunit 42 gene DOID:630 genetic disease ISO RGD:1606658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585681 Uqcc1 ubiquinol-cytochrome c reductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1345532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585687 Fam83c family with sequence similarity 83, member C gene DOID:10283 prostate cancer ISO RGD:1344185 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1585687 Fam83c family with sequence similarity 83, member C gene DOID:630 genetic disease ISO RGD:1344185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585689 Zfp639 zinc finger protein 639 gene DOID:0111546 Currarino syndrome ISO RGD:1353900 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1585689 Zfp639 zinc finger protein 639 gene DOID:630 genetic disease ISO RGD:1353900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585689 Zfp639 zinc finger protein 639 gene DOID:6457 Cowden syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 1585798 Tubg2 tubulin, gamma 2 gene DOID:630 genetic disease ISO RGD:1316944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585799 Gdpd4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1602967 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1585799 Gdpd4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585802 Ciao2b cytosolic iron-sulfur assembly component 2B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1585802 Ciao2b cytosolic iron-sulfur assembly component 2B gene DOID:0110255 cataract 5 multiple types ISO RGD:1602116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1585802 Ciao2b cytosolic iron-sulfur assembly component 2B gene DOID:630 genetic disease ISO RGD:1602116 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585818 Ddhd2 DDHD domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1585818 Ddhd2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:7240710 20140911 OMIM 1585818 Ddhd2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:16199547|PMID:16636240|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24337409|PMID:24482476|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098 1585818 Ddhd2 DDHD domain containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32488064|PMID:9536098 1585818 Ddhd2 DDHD domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318138 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:33462483 1585818 Ddhd2 DDHD domain containing 2 gene DOID:607 paraplegia ISO RGD:1318138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1585818 Ddhd2 DDHD domain containing 2 gene DOID:630 genetic disease ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1585818 Ddhd2 DDHD domain containing 2 gene DOID:9970 obesity ISO RGD:1318138 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Obesity PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:32488064 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1320780 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:630 genetic disease ISO RGD:1320780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:8778 Crohn's disease ISO RGD:1320780 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1585844 Sdf2l1 stromal cell-derived factor 2-like 1 gene DOID:9352 type 2 diabetes mellitus susceptibility IAGP D RGD:11528530|PMID:27463508 20161025 RGD DNA:deletion:exons, introns:g.3_910del (rat) 1585858 Bmp8a bone morphogenetic protein 8a gene DOID:0050830 peripheral artery disease ISO RGD:1350211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27082954 1585858 Bmp8a bone morphogenetic protein 8a gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350211 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1585858 Bmp8a bone morphogenetic protein 8a gene DOID:630 genetic disease ISO RGD:1350211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585858 Bmp8a bone morphogenetic protein 8a gene DOID:9000955 Acute Otitis Media ISO RGD:1620926 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 1585866 Pvrig PVR related immunoglobulin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604301 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1585866 Pvrig PVR related immunoglobulin domain containing gene DOID:630 genetic disease ISO RGD:1604301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:0080199 colorectal carcinoma ISO RGD:1313885 D RGD:9588975|PMID:10637515 20141105 RGD DNA:insertion, deletion:exon:c.939_940insA, c.939delA (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:0111947 immunodeficiency 21 ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:12849 autistic disorder ISO RGD:1313885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:1324 lung cancer susceptibility ISO RGD:1313885 D RGD:9588970|PMID:18495292 20141105 RGD DNA:snp:cds:p.E346K (rs140693) (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9588976|PMID:15205355 20141105 RGD DNA:snp:cds:p.E346K (rs140693) (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9588980|PMID:25162968 20141105 RGD DNA:snp:intron:IVS5-140A>G (rs3138355) (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:7240710 20230505 OMIM 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:32239153|PMID:35460607 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:630 genetic disease ISO RGD:1313885 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1313885 D RGD:9588978|PMID:22505706 20141105 RGD DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1313885 D RGD:9588977|PMID:20676650 20141105 RGD DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:7240710 20230505 OMIM 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tumor predisposition syndrome 2 PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:31322271|PMID:32239153|PMID:35460607 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9002245 Intestinal Neoplasms severity ISO RGD:1313886 D RGD:9588981|PMID:12130785 20141105 RGD 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313885 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:30049810|PMID:33871441 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1313885 D RGD:9588979|PMID:18097604 20141105 RGD mRNA:increased expression:colon, rectum (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1313885 D RGD:2316846|PMID:19469655 20100301 RGD DNA:polymorphism:cds:p.E346K (human) 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1585874 Mbd4 methyl-CpG binding domain 4 DNA glycosylase gene DOID:9270 alkaptonuria ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1585876 LOC680913 hypothetical protein LOC680913 gene DOID:630 genetic disease ISO RGD:1605880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585877 Kcnu1 potassium calcium-activated channel subfamily U member 1 gene DOID:630 genetic disease ISO RGD:1348220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585877 Kcnu1 potassium calcium-activated channel subfamily U member 1 gene DOID:9003192 Spermatogenic Failure 79 ISO RGD:1348220 D RGD:7240710 20230125 OMIM 1585877 Kcnu1 potassium calcium-activated channel subfamily U member 1 gene DOID:9003192 Spermatogenic Failure 79 ISO RGD:1348220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 79 PMID:34980136|PMID:35551387 1585877 Kcnu1 potassium calcium-activated channel subfamily U member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348220 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1585896 Med12 mediator complex subunit 12 gene DOID:0001816 angiosarcoma ISO RGD:1350145 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:26822237 1585896 Med12 mediator complex subunit 12 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:25741868 1585896 Med12 mediator complex subunit 12 gene DOID:0060289 Ohdo syndrome ISO RGD:1350145 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1585896 Med12 mediator complex subunit 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350145 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1585896 Med12 mediator complex subunit 12 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM PMID:25741868 1585896 Med12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:12910949|PMID:17369503 20170629 RGD DNA:missense mutation:cds:p.N1007S(human) 1585896 Med12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:7240710 20130221 OMIM 1585896 Med12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome PMID:10405444|PMID:16199547|PMID:17334363|PMID:17369503|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27980443|PMID:28369444|PMID:28492532|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:6711603 1585896 Med12 mediator complex subunit 12 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:10488 imperforate anus ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:1059 intellectual disability ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26273451|PMID:26350204|PMID:28369444|PMID:28492532|PMID:28544239 1585896 Med12 mediator complex subunit 12 gene DOID:12849 autistic disorder ISO RGD:1350145 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585896 Med12 mediator complex subunit 12 gene DOID:13223 uterine fibroid ISO RGD:1350145 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:26822237 1585896 Med12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33244166|PMID:9536098 1585896 Med12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 1585896 Med12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:32779332|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 1585896 Med12 mediator complex subunit 12 gene DOID:1470 major depressive disorder ISO RGD:1350145 D RGD:1358728|PMID:12216017 20200805 RGD DNA:mutation:multiple 1585896 Med12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17334363 1585896 Med12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:12910948|PMID:20507344 20170629 RGD DNA:missense mutation:cds:p.G958E(human) 1585896 Med12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:12910952|PMID:17334363 20170629 RGD DNA:missense mutation:cds:2881C>T(p.R961W)(human) 1585896 Med12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23757202|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31536828|PMID:32371413|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:6711603|PMID:8279489|PMID:9536098 1585896 Med12 mediator complex subunit 12 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350145 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:1967 leiomyosarcoma ISO RGD:1350145 D RGD:11353203|PMID:26891131 20170629 RGD DNA:missense mutations:cds: 1585896 Med12 mediator complex subunit 12 gene DOID:2154 nephroblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:25741868|PMID:26822237 1585896 Med12 mediator complex subunit 12 gene DOID:2526 prostate adenocarcinoma ISO RGD:1350145 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 1585896 Med12 mediator complex subunit 12 gene DOID:3068 glioblastoma ISO RGD:1350145 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26822237 1585896 Med12 mediator complex subunit 12 gene DOID:3717 gastric adenocarcinoma ISO RGD:1350145 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 1585896 Med12 mediator complex subunit 12 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350145 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 1585896 Med12 mediator complex subunit 12 gene DOID:3948 adrenocortical carcinoma ISO RGD:1350145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 1585896 Med12 mediator complex subunit 12 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350145 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 1585896 Med12 mediator complex subunit 12 gene DOID:591 phobic disorder ISO RGD:1350145 D RGD:1358728|PMID:12216017 20200805 RGD DNA:mutation:multiple 1585896 Med12 mediator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20970104|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:24039113|PMID:25326635|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32682435|PMID:8279489 1585896 Med12 mediator complex subunit 12 gene DOID:9001471 Anorectal Malformations ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anorectal stenosis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1350145 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350145 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29610475 1585896 Med12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:7240710 20211222 OMIM 1585896 Med12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome PMID:20301719|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30006928|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:9286458 1585896 Med12 mediator complex subunit 12 gene DOID:9004240 Phyllodes Tumor ISO RGD:1350145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 1585896 Med12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:12910951|PMID:23395478 20170629 RGD DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human) 1585896 Med12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:7240710 20140903 OMIM 1585896 Med12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:10405444|PMID:16700052|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32371413|PMID:32682435|PMID:32715471|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:8279489 1585896 Med12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:12910947|PMID:24039113 20170629 RGD DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) 1585896 Med12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:12910952|PMID:17334363 20170629 RGD DNA:missense mutation:cds:2881C>T(p.R961W)(human) 1585896 Med12 mediator complex subunit 12 gene DOID:9006947 Fibroadenoma ISO RGD:1350145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038752|PMID:26437033 1585896 Med12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:7240710 20200226 OMIM 1585896 Med12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:23757202|PMID:24033266|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26467025|PMID:26813965|PMID:27081531|PMID:27286923|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:32410215|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:6711603|PMID:8279489|PMID:9286458|PMID:9536098 1585896 Med12 mediator complex subunit 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 1585896 Med12 mediator complex subunit 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1350145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038752|PMID:26437033 1585896 Med12 mediator complex subunit 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1350145 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 1585897 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1585897 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585897 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1353817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1585897 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353817 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1585907 Eras ES cell expressed Ras gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345319 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1585907 Eras ES cell expressed Ras gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345319 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1585907 Eras ES cell expressed Ras gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1585907 Eras ES cell expressed Ras gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345319 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1585907 Eras ES cell expressed Ras gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1585907 Eras ES cell expressed Ras gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1585907 Eras ES cell expressed Ras gene DOID:12849 autistic disorder ISO RGD:1345319 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1585907 Eras ES cell expressed Ras gene DOID:630 genetic disease ISO RGD:1345319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585921 LRRTM1 leucine rich repeat transmembrane neuronal 1 gene DOID:5419 schizophrenia ISS RGD:1622254 D RGD:13592920 20180518 MouseDO OMIM:181500 1585921 LRRTM1 leucine rich repeat transmembrane neuronal 1 gene DOID:630 genetic disease ISO RGD:1351021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585938 Tmem178b transmembrane protein 178B gene DOID:0080690 RASopathy ISO RGD:6767208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1585938 Tmem178b transmembrane protein 178B gene DOID:630 genetic disease ISO RGD:6767208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585948 Cfap57 cilia and flagella associated protein 57 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603569 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1585948 Cfap57 cilia and flagella associated protein 57 gene DOID:630 genetic disease ISO RGD:1603569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585948 Cfap57 cilia and flagella associated protein 57 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 1585948 Cfap57 cilia and flagella associated protein 57 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1603569 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:21574244 1585948 Cfap57 cilia and flagella associated protein 57 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:32764743 1585960 Smtnl2 smoothelin-like 2 gene DOID:630 genetic disease ISO RGD:1605229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585988 Xaf1 XIAP associated factor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606793 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1585988 Xaf1 XIAP associated factor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 1585988 Xaf1 XIAP associated factor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1585988 Xaf1 XIAP associated factor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1606793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1585988 Xaf1 XIAP associated factor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1606793 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1585988 Xaf1 XIAP associated factor 1 gene DOID:3070 high grade glioma ISO RGD:1606793 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28122345 1585988 Xaf1 XIAP associated factor 1 gene DOID:6000 congestive heart failure ISO RGD:1606793 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1585988 Xaf1 XIAP associated factor 1 gene DOID:630 genetic disease ISO RGD:1606793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585988 Xaf1 XIAP associated factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17087954 1585988 Xaf1 XIAP associated factor 1 gene DOID:9001488 Human Influenza ISO RGD:1606793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1585988 Xaf1 XIAP associated factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15843754|PMID:17087954 1585988 Xaf1 XIAP associated factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606793 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1585988 Xaf1 XIAP associated factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17570219 1585989 Akirin1 akirin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606232 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1585989 Akirin1 akirin 1 gene DOID:630 genetic disease ISO RGD:1606232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585999 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1585999 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:13938 amenorrhea ISO RGD:1603549 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1585999 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1603549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1585999 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1585999 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:9270 alkaptonuria ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1586015 Tut7 terminal uridylyl transferase 7 gene DOID:630 genetic disease ISO RGD:1344359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586017 Tatdn2 TatD DNase domain containing 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1349644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 1586017 Tatdn2 TatD DNase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586017 Tatdn2 TatD DNase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349644 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586017 Tatdn2 TatD DNase domain containing 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 1586025 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1586025 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1322871 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 1586025 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1322871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586036 Cpne2 copine 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1586036 Cpne2 copine 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1586036 Cpne2 copine 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1586036 Cpne2 copine 2 gene DOID:630 genetic disease ISO RGD:1319355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604214 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:7240710 20141015 OMIM 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30740739|PMID:31376476|PMID:31462756|PMID:33223529|PMID:9030548|PMID:9536098 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:14749 methylmalonic acidemia ISO RGD:1604214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21841779 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:14749 methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:9030548 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:14780 KBG syndrome ISO RGD:1604214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:630 genetic disease ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21841779|PMID:25741868|PMID:26827111|PMID:28492532 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604214 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:9005126 Malonic Aciduria ISO RGD:1604214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21841779 1586037 Acsf3 acyl-CoA synthetase family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1604214 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1586038 Il34 interleukin 34 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602184 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1586038 Il34 interleukin 34 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1586038 Il34 interleukin 34 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1586038 Il34 interleukin 34 gene DOID:630 genetic disease ISO RGD:1602184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586040 Coq9 coenzyme Q9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1586040 Coq9 coenzyme Q9 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603980 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1586040 Coq9 coenzyme Q9 gene DOID:0050730 coenzyme Q10 deficiency disease ISS RGD:1603980 D RGD:13592920 20180518 MouseDO OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 1586040 Coq9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:7240710 20140911 OMIM 1586040 Coq9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome PMID:16199547|PMID:19375058|PMID:20495179|PMID:20689595|PMID:22490322|PMID:23255162|PMID:25741868|PMID:25802402|PMID:26081641|PMID:27629047|PMID:28492532|PMID:28736527|PMID:29255295|PMID:30482867 1586040 Coq9 coenzyme Q9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1586040 Coq9 coenzyme Q9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1586040 Coq9 coenzyme Q9 gene DOID:630 genetic disease ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:27629047|PMID:28492532|PMID:9536098 1586040 Coq9 coenzyme Q9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603980 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 1586052 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604469 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1586052 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:2717 Bloom syndrome ISO RGD:1604469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1586052 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:630 genetic disease ISO RGD:1604469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586052 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:9256 colorectal cancer ISO RGD:1604469 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1586053 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316743 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1586053 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:2717 Bloom syndrome ISO RGD:1316743 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1586053 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:630 genetic disease ISO RGD:1316743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586053 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:9007479 Habitual Abortions ISO RGD:1316743 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 1586053 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:9256 colorectal cancer ISO RGD:1316743 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1586096 Pcmtd1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586146 Rgs20 regulator of G-protein signaling 20 gene DOID:630 genetic disease ISO RGD:1312560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586149 Klrb1a killer cell lectin like receptor B1A gene DOID:0080600 COVID-19 ISO RGD:1343225 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1586149 Klrb1a killer cell lectin like receptor B1A gene DOID:1909 melanoma ISO RGD:1343225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17295095 1586149 Klrb1a killer cell lectin like receptor B1A gene DOID:630 genetic disease ISO RGD:1343225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586150 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:630 genetic disease ISO RGD:1602301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586150 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9000123 Deglutition Disorders ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:35321494 1586150 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602301 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586150 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:35321494 1586150 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9009069 Combined Oxidative Phosphorylation Deficiency 56 ISO RGD:1602301 D RGD:7240710 20221214 OMIM 1586150 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9009069 Combined Oxidative Phosphorylation Deficiency 56 ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 PMID:35321494 1586153 Fam149a family with sequence similarity 149, member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604030 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 1586153 Fam149a family with sequence similarity 149, member A gene DOID:12849 autistic disorder ISO RGD:1604030 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586153 Fam149a family with sequence similarity 149, member A gene DOID:630 genetic disease ISO RGD:1604030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586153 Fam149a family with sequence similarity 149, member A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 1586156 Top2b DNA topoisomerase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:1350637 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 1586156 Top2b DNA topoisomerase II beta gene DOID:0060728 NGLY1-deficiency ISO RGD:1350637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 1586156 Top2b DNA topoisomerase II beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1350637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 1586156 Top2b DNA topoisomerase II beta gene DOID:630 genetic disease ISO RGD:1350637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1586156 Top2b DNA topoisomerase II beta gene DOID:8634 prostate carcinoma in situ ISO RGD:1350637 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 1586156 Top2b DNA topoisomerase II beta gene DOID:8692 myeloid leukemia ISO RGD:1350637 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16932348 1586156 Top2b DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:7240710 20211110 OMIM 1586156 Top2b DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations PMID:11152140|PMID:11476068|PMID:15521984|PMID:21204224|PMID:22002929|PMID:25741868|PMID:28492532|PMID:31409799|PMID:32128574|PMID:33459963 1586163 Dmxl2 Dmx-like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347338 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1586163 Dmxl2 Dmx-like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:7240710 20190315 OMIM 1586163 Dmxl2 Dmx-like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 71 PMID:25741868|PMID:27657680|PMID:28492532|PMID:33715530|PMID:35802133|PMID:36633841 1586163 Dmxl2 Dmx-like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:7240710 20191211 OMIM 1586163 Dmxl2 Dmx-like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 PMID:25741868|PMID:28492532|PMID:30237576|PMID:31688942 1586163 Dmxl2 Dmx-like 2 gene DOID:13938 amenorrhea ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 1586163 Dmxl2 Dmx-like 2 gene DOID:2717 Bloom syndrome ISO RGD:1347338 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1586163 Dmxl2 Dmx-like 2 gene DOID:607 paraplegia ISO RGD:1347338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 1586163 Dmxl2 Dmx-like 2 gene DOID:630 genetic disease ISO RGD:1347338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1586163 Dmxl2 Dmx-like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:7240710 20150311 OMIM 1586163 Dmxl2 Dmx-like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome PMID:25248098|PMID:25741868|PMID:28492532 1586163 Dmxl2 Dmx-like 2 gene DOID:9004538 Hearing Loss ISO RGD:1347338 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 1586163 Dmxl2 Dmx-like 2 gene DOID:9007428 Muscle Spasticity ISO RGD:1347338 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868|PMID:28492532 1586163 Dmxl2 Dmx-like 2 gene DOID:9256 colorectal cancer ISO RGD:1347338 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347719 D RGD:1625285|PMID:8361504 20070531 RGD 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1347719 D RGD:8554872 20190423 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0080690 RASopathy ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:29255178 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1347719 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0110651 long QT syndrome 10 ISO RGD:1347719 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0111971 immunodeficiency 18 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0111972 immunodeficiency 19 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1586165 Kmt2a lysine methyltransferase 2A gene DOID:0111973 immunodeficiency 17 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1586165 Kmt2a lysine methyltransferase 2A gene DOID:10283 prostate cancer ISO RGD:1347719 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 1586165 Kmt2a lysine methyltransferase 2A gene DOID:1037 lymphoid leukemia ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17463288 1586165 Kmt2a lysine methyltransferase 2A gene DOID:1059 intellectual disability ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29574747 1586165 Kmt2a lysine methyltransferase 2A gene DOID:10907 microcephaly ISO RGD:1347719 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1586165 Kmt2a lysine methyltransferase 2A gene DOID:11054 urinary bladder cancer ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1586165 Kmt2a lysine methyltransferase 2A gene DOID:1240 leukemia ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11731795|PMID:12937054 1586165 Kmt2a lysine methyltransferase 2A gene DOID:12849 autistic disorder ISO RGD:1347719 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autism 1586165 Kmt2a lysine methyltransferase 2A gene DOID:224 transient cerebral ischemia treatment IMP D RGD:155888565|PMID:34694864 20230208 RGD 1586165 Kmt2a lysine methyltransferase 2A gene DOID:2671 transitional cell carcinoma ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1586165 Kmt2a lysine methyltransferase 2A gene DOID:299 adenocarcinoma ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1586165 Kmt2a lysine methyltransferase 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747 1586165 Kmt2a lysine methyltransferase 2A gene DOID:4362 cervical cancer ISO RGD:1347719 D RGD:9588221|PMID:22926525 20141022 RGD human gene in a mouse model 1586165 Kmt2a lysine methyltransferase 2A gene DOID:4971 myelofibrosis exacerbates ISO RGD:1347719 D RGD:156420157|PMID:35731275 20230217 RGD DOID:4971DNA:mutations:multiple (human) 1586165 Kmt2a lysine methyltransferase 2A gene DOID:5409 lung small cell carcinoma ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 1586165 Kmt2a lysine methyltransferase 2A gene DOID:630 genetic disease ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27759909|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29453417|PMID:29574747|PMID:30138938 1586165 Kmt2a lysine methyltransferase 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 1586165 Kmt2a lysine methyltransferase 2A gene DOID:8692 myeloid leukemia ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8282816|PMID:17463288 1586165 Kmt2a lysine methyltransferase 2A gene DOID:8864 acute monocytic leukemia ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9000647 Acute Erythroleukemia ISO RGD:1347719 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1347719 D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1347719 D RGD:7240710 20141015 OMIM 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1347719 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:18414213|PMID:22795537|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25574841|PMID:25724810|PMID:25741868|PMID:25741869|PMID:25810209|PMID:26633545|PMID:26690532|PMID:27441994|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29255178|PMID:29453417|PMID:29574747|PMID:30305169|PMID:31157197|PMID:31337854|PMID:32860008|PMID:33004838|PMID:5519603 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347719 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347719 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347719 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347719 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9004507 Hirsutism ISO RGD:1347719 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hirsutism 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9004814 Chromosome Aberrations ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1347719 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10900 D RGD:155888490|PMID:31570196 20230207 RGD protein:increased expression:kidney (mouse) 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9007661 Dwarfism ISO RGD:1347719 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10339604|PMID:26237430 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:1625285|PMID:8361504 20070531 RGD 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ameliorates ISO RGD:10900 D RGD:11530086|PMID:26927674 20230208 RGD 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1347719 D RGD:155888491|PMID:33542482 20230207 RGD human cell line in a mouse model 1586165 Kmt2a lysine methyltransferase 2A gene DOID:93 language disorder ISO RGD:1347719 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:25741868 1586165 Kmt2a lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347719 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:24736461|PMID:25730765 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:0080043 achondrogenesis ISO RGD:1318006 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Achondrogenesis 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:7240710 20130221 OMIM 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:16199547|PMID:17576681|PMID:200899|PMID:2008997|PMID:20089971|PMID:23956106|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29620724|PMID:29872333|PMID:30728324|PMID:31903676|PMID:34057271|PMID:9536098 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:1591 renovascular hypertension ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:630 genetic disease ISO RGD:1318006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:65 connective tissue disease ISO RGD:1318006 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:200899|PMID:2008997|PMID:20089971|PMID:25741868|PMID:28492532 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:7240710 20210414 OMIM 1586166 Trip11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 1586167 Tmem67 transmembrane protein 67 gene DOID:0050545 visceral heterotaxy ISS RGD:1316347 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1586167 Tmem67 transmembrane protein 67 gene DOID:0050777 Joubert syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26467025|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30455918|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:33532864|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:8862632|PMID:9375913|PMID:9536098 1586167 Tmem67 transmembrane protein 67 gene DOID:0050778 Meckel syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 1586167 Tmem67 transmembrane protein 67 gene DOID:0050778 Meckel syndrome ISS RGD:1316347 D RGD:13592920 20180518 MouseDO 1586167 Tmem67 transmembrane protein 67 gene DOID:0050952 spastic ataxia ISO RGD:1606753 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 1586167 Tmem67 transmembrane protein 67 gene DOID:0060340 ciliopathy ISO RGD:1606753 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:28492532|PMID:28771248 1586167 Tmem67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:17377820|PMID:17397051|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29891882|PMID:9375913 1586167 Tmem67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 IAGP D RGD:11535082|PMID:16415887 20160920 RGD DNA:missense mutation:exon:p.P394L (rat) 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1316347 D RGD:11535945|PMID:19211713 20160922 RGD DNA:deletion 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:11063991|PMID:17397051 20160920 RGD DNA:missense mutations, splice-site mutation:exon:multiple 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:11068761|PMID:17377820 20160920 RGD DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:11535078|PMID:23351400 20160920 RGD DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:11535080|PMID:26191240 20160920 RGD DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:11535082|PMID:16415887 20160920 RGD DNA:deletions, missense mutation, splice-site mutations: :multiple 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:7240710 20130221 OMIM 1586167 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22121117|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26467025|PMID:26546361|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:29974258|PMID:31411728|PMID:34032358|PMID:34675960|PMID:9375913|PMID:9536098 1586167 Tmem67 transmembrane protein 67 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:7240710 20171011 OMIM 1586167 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258 1586167 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 1586167 Tmem67 transmembrane protein 67 gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:1300514|PMID:11095650 20201210 RGD 1586167 Tmem67 transmembrane protein 67 gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:14995942|PMID:30705305 20191111 RGD 1586167 Tmem67 transmembrane protein 67 gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:15014788|PMID:15052665 20201210 RGD 1586167 Tmem67 transmembrane protein 67 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28289063|PMID:28431631|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 1586167 Tmem67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:11072184|PMID:17160906 20160920 RGD DNA:missense mutations, splice-site mutations: :multiple 1586167 Tmem67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:7240710 20130221 OMIM 1586167 Tmem67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 6 PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28508964|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30055837|PMID:30455918|PMID:31019026|PMID:31319225|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 1586167 Tmem67 transmembrane protein 67 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:11535941|PMID:19508969 20160922 RGD DNA:missense mutations: :multiple 1586167 Tmem67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:11535942|PMID:20607301 20160922 RGD DNA:missense mutations: :p.C615R (c.1843T>C), p.Q747E (c.2239C>G) (human) 1586167 Tmem67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:7240710 20130221 OMIM 1586167 Tmem67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11 PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:28289063|PMID:28492532|PMID:28771248|PMID:29127258|PMID:29146704|PMID:29891882|PMID:29974258|PMID:33532864|PMID:9375913|PMID:9536098 1586167 Tmem67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:11535944|PMID:19058225 20160922 RGD DNA:missense mutations: :multiple 1586167 Tmem67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:11535946|PMID:19574260 20160922 RGD DNA:missense mutations: :multiple 1586167 Tmem67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism 1586167 Tmem67 transmembrane protein 67 gene DOID:1059 intellectual disability ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:10907 microcephaly ISO RGD:1606753 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1586167 Tmem67 transmembrane protein 67 gene DOID:10908 hydrocephalus IAGP D RGD:14995942|PMID:30705305 20191111 RGD 1586167 Tmem67 transmembrane protein 67 gene DOID:10908 hydrocephalus IAGP D RGD:15014788|PMID:15052665 20201210 RGD 1586167 Tmem67 transmembrane protein 67 gene DOID:12215 oligohydramnios ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:35005812 1586167 Tmem67 transmembrane protein 67 gene DOID:12270 coloboma ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:12712 nephronophthisis ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17160906|PMID:17397051|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532|PMID:28497568|PMID:29568536 1586167 Tmem67 transmembrane protein 67 gene DOID:1573 communicating hydrocephalus IAGP D RGD:14995942|PMID:30705305 20200130 RGD 1586167 Tmem67 transmembrane protein 67 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606753 D RGD:11070512|PMID:18327255 20160920 RGD DNA:missense mutation: :p.S320C (human) 1586167 Tmem67 transmembrane protein 67 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18327255 1586167 Tmem67 transmembrane protein 67 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16415887|PMID:25741868 1586167 Tmem67 transmembrane protein 67 gene DOID:2975 cystic kidney disease ISO RGD:1606753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19508969 1586167 Tmem67 transmembrane protein 67 gene DOID:2975 cystic kidney disease ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cystic kidney disease PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:4989 pancreatitis ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:5082 liver cirrhosis ISO RGD:1606753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19508969 1586167 Tmem67 transmembrane protein 67 gene DOID:557 kidney disease ISO RGD:1606753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17160906|PMID:18327255|PMID:18414213|PMID:25741868|PMID:28289063|PMID:28492532|PMID:29127258 1586167 Tmem67 transmembrane protein 67 gene DOID:576 proteinuria IAGP D RGD:1300514|PMID:11095650 20201210 RGD compared to RGD:14995941 1586167 Tmem67 transmembrane protein 67 gene DOID:630 genetic disease ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:26035863|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 1586167 Tmem67 transmembrane protein 67 gene DOID:8283 peritonitis ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Peritonitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:9000343 Vision Disorders ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:9000495 Tremor ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Tremor PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:7240710 20201202 OMIM 1586167 Tmem67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:12368986|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27491411|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 1586167 Tmem67 transmembrane protein 67 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:20232449|PMID:23559409|PMID:24033266|PMID:25741868|PMID:26729329|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:7240710 20221207 OMIM 1586167 Tmem67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258|PMID:29146704|PMID:29891882|PMID:9375913 1586167 Tmem67 transmembrane protein 67 gene DOID:9006534 Nervous System Malformations ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:19574260|PMID:23559409|PMID:25741868|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 1586167 Tmem67 transmembrane protein 67 gene DOID:9008086 Developmental Disabilities ISO RGD:1606753 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586167 Tmem67 transmembrane protein 67 gene DOID:9650 pathologic nystagmus ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 1586169 Trim62 tripartite motif-containing 62 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346151 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1586169 Trim62 tripartite motif-containing 62 gene DOID:630 genetic disease ISO RGD:1346151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346323 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:12849 autistic disorder ISO RGD:1346323 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1346323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346323 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586174 Sat1 spermidine/spermine N1-acetyl transferase 1 gene DOID:9970 obesity ISO RGD:1346323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0050117 disease by infectious agent treatment ISO RGD:1342473 D RGD:155260358|PMID:23118991 20221005 RGD associated with lung non-small cell carcinoma;DNA:missense mutation:CDS:p.D1104H (human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0050427 xeroderma pigmentosum ISO RGD:1342473 D RGD:7246919|PMID:22824526 20130626 RGD 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0050427 xeroderma pigmentosum ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:11841555|PMID:23370536|PMID:24033266|PMID:24700531|PMID:2478446|PMID:25741868|PMID:28492532|PMID:29130490|PMID:29749609|PMID:30838033|PMID:31130284|PMID:32522879|PMID:7951246|PMID:8317483|PMID:9096355 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0080763 diffuse gastric cancer ameliorates ISO RGD:1342473 D RGD:155260342|PMID:30417012 20221004 RGD mRNA:increased expression:stomach (human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:7240710 20171011 OMIM 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 PMID:11443545|PMID:17466625|PMID:17576681|PMID:24700531|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30306255|PMID:30838033|PMID:31130284|PMID:8818951|PMID:9096355|PMID:9536098 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:7240710 20130425 OMIM 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group G PMID:10026181|PMID:11219864|PMID:11841555|PMID:12060391|PMID:15082767|PMID:15682379|PMID:16550608|PMID:17466625|PMID:22821389|PMID:23255472|PMID:23370536|PMID:24033266|PMID:24354460|PMID:24700531|PMID:24728327|PMID:25714468|PMID:25741868|PMID:25795128|PMID:26149386|PMID:26580448|PMID:26884178|PMID:27104957|PMID:28492532|PMID:28654958|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32522879|PMID:33219753|PMID:492197|PMID:698095|PMID:7951246|PMID:9096355 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:10534 stomach cancer ameliorates ISO RGD:1342473 D RGD:155260339|PMID:27340861 20221003 RGD DNA:SNP:intron: (rs2094258) (human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:1324 lung cancer susceptibility ISO RGD:1342473 D RGD:155260338|PMID:10910954 20221003 RGD mRNA:decreased expression:lung (human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:14701 propionic acidemia ISO RGD:1342473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:1909 melanoma disease_progression ISO RGD:1342473 D RGD:12880434|PMID:21390047 20170508 RGD DNA:polymorphism:exon:p.D1104H(human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2394 ovarian cancer ISO RGD:1342473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2596 larynx cancer susceptibility ISO RGD:1342473 D RGD:155260337|PMID:19444904 20221003 RGD DNA:missense mutation:CDS:p.D1104H (human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2962 Cockayne syndrome ISO RGD:10534 D RGD:10401090|PMID:15082767 20150924 RGD 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2962 Cockayne syndrome ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome PMID:11228268|PMID:2478446|PMID:25741868|PMID:30838033|PMID:8317483|PMID:9096355 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:151347410|PMID:24782167 20220119 RGD 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:153323316|PMID:28924235 20221004 RGD DNA:SNPs:multiple (human) 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:630 genetic disease ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12060391|PMID:23255472|PMID:23370536|PMID:24728327|PMID:25741868|PMID:25795128|PMID:26149386|PMID:28492532|PMID:30086788|PMID:30306255|PMID:32522879 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:687 hepatoblastoma ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1342473 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342473 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342473 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15682379|PMID:16550608|PMID:22821389|PMID:24728327|PMID:25741868|PMID:26580448|PMID:27104957|PMID:27356891|PMID:28492532|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32127467|PMID:34130653 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342473 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 1586176 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 1586179 Arhgef4 Rho guanine nucleotide exchange factor 4 gene DOID:5419 schizophrenia ISO RGD:1312054 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1586179 Arhgef4 Rho guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1312054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586185 Eif4e3 eukaryotic translation initiation factor 4E family member 3 gene DOID:0080600 COVID-19 ISO RGD:1348241 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1586185 Eif4e3 eukaryotic translation initiation factor 4E family member 3 gene DOID:630 genetic disease ISO RGD:1348241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586185 Eif4e3 eukaryotic translation initiation factor 4E family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1586196 Gdf2 growth differentiation factor 2 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1353215 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 1586196 Gdf2 growth differentiation factor 2 gene DOID:5419 schizophrenia ISO RGD:1353215 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1586196 Gdf2 growth differentiation factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:1353215 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 1586196 Gdf2 growth differentiation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353215 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:23936038|PMID:28284560 1586196 Gdf2 growth differentiation factor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:26801773|PMID:28492532 1586196 Gdf2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:7240710 20140911 OMIM 1586196 Gdf2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 PMID:23972370|PMID:25741868|PMID:26801773|PMID:27081547|PMID:28492532|PMID:29650961|PMID:30578397|PMID:31661308|PMID:31727138|PMID:32573726|PMID:32992168|PMID:34611981 1586196 Gdf2 growth differentiation factor 2 gene DOID:9002589 Bone Fractures ISO RGD:1353215 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27394662 1586210 Hoxc4 homeo box C4 gene DOID:10485 esophageal atresia ISO RGD:1558279 D RGD:10402180|PMID:17211587 20151019 RGD mRNA:decreased expression:lung (mouse) 1586210 Hoxc4 homeo box C4 gene DOID:630 genetic disease ISO RGD:1351931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586210 Hoxc4 homeo box C4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351931 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586211 Hoxb8 homeo box B8 gene DOID:0050587 trichotillomania ISO RGD:1345658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11779477 1586211 Hoxb8 homeo box B8 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1345658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11779477 1586211 Hoxb8 homeo box B8 gene DOID:630 genetic disease ISO RGD:1345658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586212 Pdxp pyridoxal phosphatase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1586212 Pdxp pyridoxal phosphatase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351799 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1586212 Pdxp pyridoxal phosphatase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1586212 Pdxp pyridoxal phosphatase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1586212 Pdxp pyridoxal phosphatase gene DOID:630 genetic disease ISO RGD:1351799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586233 Triap1 TP53 regulated inhibitor of apoptosis 1 gene DOID:630 genetic disease ISO RGD:1602327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586236 Adad2 adenosine deaminase domain containing 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1602291 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1586236 Adad2 adenosine deaminase domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602291 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 1586236 Adad2 adenosine deaminase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:1349053 D RGD:7240710 20190116 OMIM 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:1349053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis PMID:10634394|PMID:10749976|PMID:11030412|PMID:11403039|PMID:11735031|PMID:11739418|PMID:11889214|PMID:11889216|PMID:11891678|PMID:12070265|PMID:12116253|PMID:12116254|PMID:12362035|PMID:12424438|PMID:15118270|PMID:15356038|PMID:15931687|PMID:16227037|PMID:17028440|PMID:17047016|PMID:17182655|PMID:17726696|PMID:17935511|PMID:21712857|PMID:22020182|PMID:22791839|PMID:23426818|PMID:23636926|PMID:24186869|PMID:25659810|PMID:25741868|PMID:26467025|PMID:27676402|PMID:27708272|PMID:28973083|PMID:32344414|PMID:34627339|PMID:9140395|PMID:9590292|PMID:9590293 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:0112120 SHOX-related short stature ISO RGD:1349053 D RGD:7240710 20190116 OMIM 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:0112120 SHOX-related short stature ISO RGD:1349053 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SHOX-related short stature PMID:10634394|PMID:10749976|PMID:11403039|PMID:11735031|PMID:11739418|PMID:11889216|PMID:11891678|PMID:12070265|PMID:12362035|PMID:12424438|PMID:15118270|PMID:15931687|PMID:16227037|PMID:17028440|PMID:17047016|PMID:17182655|PMID:17726696|PMID:21262861|PMID:21912078|PMID:22020182|PMID:22791839|PMID:23636926|PMID:25659810|PMID:25741868|PMID:26467025|PMID:27708272|PMID:32344414|PMID:9140395|PMID:9590292 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:12849 autistic disorder ISO RGD:1349053 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:5419 schizophrenia ISO RGD:1349053 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:65 connective tissue disease ISO RGD:1349053 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12362035|PMID:22020182|PMID:25659810|PMID:25741868|PMID:26467025 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:9005842 Langer Mesomelic Dysplasia ISO RGD:1349053 D RGD:7240710 20190116 OMIM 1586239 LOC691272 similar to reproductive homeobox on X chromosome, 11 gene DOID:9005842 Langer Mesomelic Dysplasia ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome PMID:11889214|PMID:12116254|PMID:17935511|PMID:21712857|PMID:25741868|PMID:9590292|PMID:9590293 1586242 Zfp78 zinc finger protein 78 gene DOID:630 genetic disease ISO RGD:1350704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586251 Lypd8 Ly6/Plaur domain containing 8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:6771298 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1586262 Rnf207 ring finger protein 207 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603826 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1586262 Rnf207 ring finger protein 207 gene DOID:2843 long QT syndrome ISO RGD:1603826 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 1586262 Rnf207 ring finger protein 207 gene DOID:630 genetic disease ISO RGD:1603826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586262 Rnf207 ring finger protein 207 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603826 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586262 Rnf207 ring finger protein 207 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1586264 Rhox13 Rhox homeobox family member 13 gene DOID:0050437 Danon disease ISO RGD:1603173 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1586264 Rhox13 Rhox homeobox family member 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603173 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1586264 Rhox13 Rhox homeobox family member 13 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1586264 Rhox13 Rhox homeobox family member 13 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1586264 Rhox13 Rhox homeobox family member 13 gene DOID:12849 autistic disorder ISO RGD:1603173 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586264 Rhox13 Rhox homeobox family member 13 gene DOID:630 genetic disease ISO RGD:1603173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586275 Gemin5 gem (nuclear organelle) associated protein 5 gene DOID:4990 essential tremor ISO RGD:1321352 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 1586275 Gemin5 gem (nuclear organelle) associated protein 5 gene DOID:630 genetic disease ISO RGD:1321352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33963192|PMID:35295849 1586275 Gemin5 gem (nuclear organelle) associated protein 5 gene DOID:9000830 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ISO RGD:1321352 D RGD:7240710 20210818 OMIM 1586275 Gemin5 gem (nuclear organelle) associated protein 5 gene DOID:9000830 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION ISO RGD:1321352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction PMID:25741868|PMID:28492532|PMID:33963192 1586282 Cimap3 ciliary microtubule associated protein 3 gene DOID:12849 autistic disorder ISO RGD:1604536 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586282 Cimap3 ciliary microtubule associated protein 3 gene DOID:630 genetic disease ISO RGD:1604536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586284 Faxdc2 fatty acid hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1319694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586284 Faxdc2 fatty acid hydroxylase domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1586304 Fam91a1 family with sequence similarity 91, member A1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605857 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1586304 Fam91a1 family with sequence similarity 91, member A1 gene DOID:630 genetic disease ISO RGD:1605857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586305 Tomm20l translocase of outer mitochondrial membrane 20 like gene DOID:0110992 Joubert syndrome 23 ISO RGD:1602627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 1586305 Tomm20l translocase of outer mitochondrial membrane 20 like gene DOID:630 genetic disease ISO RGD:1602627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586306 Ppp1r3d protein phosphatase 1, regulatory subunit 3D gene DOID:630 genetic disease ISO RGD:1315049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586313 Sox12 SRY-box transcription factor 12 gene DOID:630 genetic disease ISO RGD:1318728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586313 Sox12 SRY-box transcription factor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318728 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586315 C14h1orf146 similar to human chromosome 1 open reading frame 146 gene DOID:630 genetic disease ISO RGD:1603476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586317 Gpr137 G protein-coupled receptor 137 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1586317 Gpr137 G protein-coupled receptor 137 gene DOID:1059 intellectual disability ISO RGD:1604608 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1586317 Gpr137 G protein-coupled receptor 137 gene DOID:3070 high grade glioma ISO RGD:1604608 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1586317 Gpr137 G protein-coupled receptor 137 gene DOID:630 genetic disease ISO RGD:1604608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586322 Nrsn2 neurensin 2 gene DOID:630 genetic disease ISO RGD:1313267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586322 Nrsn2 neurensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313267 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586337 Tmem52b transmembrane protein 52B gene DOID:630 genetic disease ISO RGD:1606983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:1059 intellectual disability ISO RGD:1604761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:12704 ataxia telangiectasia ISO RGD:1604761 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604761 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1586341 C8h11orf52 similar to human chromosome 11 open reading frame 52 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1586346 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:13619 extrahepatic cholestasis treatment IMP D RGD:9491846|PMID:24097032 20140916 RGD 1586346 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:1561 cognitive disorder ISO RGD:1606498 D RGD:11554173 20220809 CTD CTD Direct Evidence: therapeutic PMID:35187972 1586346 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1606498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586351 Zfp185 zinc finger protein 185 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1586351 Zfp185 zinc finger protein 185 gene DOID:0050476 Barth syndrome ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1586351 Zfp185 zinc finger protein 185 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1586351 Zfp185 zinc finger protein 185 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1586351 Zfp185 zinc finger protein 185 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1586351 Zfp185 zinc finger protein 185 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1586351 Zfp185 zinc finger protein 185 gene DOID:12849 autistic disorder ISO RGD:1352809 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586351 Zfp185 zinc finger protein 185 gene DOID:13628 favism ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1586351 Zfp185 zinc finger protein 185 gene DOID:2729 dyskeratosis congenita ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1586351 Zfp185 zinc finger protein 185 gene DOID:607 paraplegia ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1586351 Zfp185 zinc finger protein 185 gene DOID:630 genetic disease ISO RGD:1352809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586362 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:630 genetic disease ISO RGD:1353150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586364 Hcar1 hydroxycarboxylic acid receptor 1 gene DOID:630 genetic disease ISO RGD:1316071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2303881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303881 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2303881 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:2303881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2303881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:1059 intellectual disability ISO RGD:2303881 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1586367 Syce3 synaptonemal complex central element protein 3 gene DOID:630 genetic disease ISO RGD:2303881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586368 Il23r interleukin 23 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1351657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784|PMID:23291587|PMID:26192919 1586368 Il23r interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:1351657 D RGD:7421521|PMID:22663548 20140328 RGD DNA:SNPs: :rs10889677,rs2201841(human) 1586368 Il23r interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1351657 D RGD:8549554|PMID:18073300 20140328 RGD DNA:SNPs: :rs2201841,rs10889677(human) 1586368 Il23r interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:7240710 20130425 OMIM 1586368 Il23r interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 17 | ClinVar Annotator: match by term: Inflammatory bowel disease 17, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:25741868|PMID:28492532 1586368 Il23r interleukin 23 receptor gene DOID:0111279 psoriasis 7 ISO RGD:1351657 D RGD:7240710 20230505 OMIM 1586368 Il23r interleukin 23 receptor gene DOID:1024 leprosy ISO RGD:1351657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 1586368 Il23r interleukin 23 receptor gene DOID:1059 intellectual disability ISO RGD:1351657 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1586368 Il23r interleukin 23 receptor gene DOID:10608 celiac disease ISO RGD:1351657 D RGD:8549604|PMID:19175939 20140401 RGD 1586368 Il23r interleukin 23 receptor gene DOID:10608 celiac disease susceptibility ISO RGD:1351657 D RGD:8549631|PMID:18368064 20140401 RGD DNA:SNP:cds:p.R381Q(rs11209026)(human) 1586368 Il23r interleukin 23 receptor gene DOID:11335 sarcoidosis susceptibility ISO RGD:1351657 D RGD:8549545|PMID:21846945 20140328 RGD DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) 1586368 Il23r interleukin 23 receptor gene DOID:12361 Graves' disease no_association ISO RGD:1351657 D RGD:8549564|PMID:19021011 20140331 RGD DNA:SNPs: :rs2201841,rs10889677,rs7530511(human) 1586368 Il23r interleukin 23 receptor gene DOID:12361 Graves' disease susceptibility ISO RGD:1351657 D RGD:8549554|PMID:18073300 20140328 RGD DNA:SNP: :rs7530511(human) 1586368 Il23r interleukin 23 receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1351657 D RGD:8549566|PMID:22262980 20140331 RGD protein:increased expression:minor salivary gland: 1586368 Il23r interleukin 23 receptor gene DOID:13141 uveitis susceptibility ISO RGD:1351657 D RGD:8549545|PMID:21846945 20140328 RGD associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human) 1586368 Il23r interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:8549550|PMID:22483685 20140328 RGD DNA:SNP: :rs1884444(human) 1586368 Il23r interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:8549565|PMID:20375120 20140331 RGD DNA:SNPs,haplotype::rs17375018, rs11209032(human); 1586368 Il23r interleukin 23 receptor gene DOID:2377 multiple sclerosis ISO RGD:1351657 D RGD:8549631|PMID:18368064 20140401 RGD DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human) 1586368 Il23r interleukin 23 receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:1351657 D RGD:8549632|PMID:24547735 20140401 RGD DNA:SNPs: :rs2201841,rs10889677,s7517847(human) 1586368 Il23r interleukin 23 receptor gene DOID:2841 asthma ISO RGD:1622129 D RGD:5037240|PMID:19935773 20110303 RGD 1586368 Il23r interleukin 23 receptor gene DOID:418 systemic scleroderma ISO RGD:1351657 D RGD:5096624|PMID:19918037 20110304 RGD DNA:SNPs: :rs11209026, rs11465804 (human) 1586368 Il23r interleukin 23 receptor gene DOID:418 systemic scleroderma no_association ISO RGD:1351657 D RGD:8549603|PMID:18713787 20140401 RGD DNA:SNPs: :rs11209032,rs1495965(human) 1586368 Il23r interleukin 23 receptor gene DOID:4483 rhinitis susceptibility ISO RGD:1351657 D RGD:8549605|PMID:23696856 20140401 RGD DNA:SNP,haplotype: :rs7517847(human) 1586368 Il23r interleukin 23 receptor gene DOID:630 genetic disease ISO RGD:1351657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1586368 Il23r interleukin 23 receptor gene DOID:6432 pulmonary hypertension ISO RGD:1351657 D RGD:5096624|PMID:19918037 20110304 RGD associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) 1586368 Il23r interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062 1586368 Il23r interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:8549549|PMID:19522770 20140328 RGD DNA:SNPs,haplotype:multiple: 1586368 Il23r interleukin 23 receptor gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1351657 D RGD:8549630|PMID:19877036 20140401 RGD DNA:SNP: :rs11209026(human) 1586368 Il23r interleukin 23 receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351657 D RGD:8549596|PMID:18647855 20140401 RGD DNA:SNP::rs1343151(human) 1586368 Il23r interleukin 23 receptor gene DOID:848 arthritis susceptibility ISO RGD:1351657 D RGD:8549572|PMID:19035472 20140331 RGD associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) 1586368 Il23r interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:19122664|PMID:20228799 1586368 Il23r interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:8549574|PMID:23093364 20140331 RGD DNA:SNP,Haplotype: :rs1884444(human) 1586368 Il23r interleukin 23 receptor gene DOID:8778 Crohn's disease ISO RGD:1351657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 1586368 Il23r interleukin 23 receptor gene DOID:8778 Crohn's disease susceptibility ISO RGD:1351657 D RGD:8549568|PMID:17068223 20140331 RGD DNA:SNPs:multiple: 1586368 Il23r interleukin 23 receptor gene DOID:8893 psoriasis ISO RGD:1351657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190|PMID:24212883 1586368 Il23r interleukin 23 receptor gene DOID:8893 psoriasis ISO RGD:1351657 D RGD:8549574|PMID:23093364 20140331 RGD DNA:SNPs: :rs1884444,rs10889677(human); 1586368 Il23r interleukin 23 receptor gene DOID:8893 psoriasis ISO RGD:1351657 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Psoriasis, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:28492532 1586368 Il23r interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:8549569|PMID:17587057 20140331 RGD DNA:SNP:cds:p.R381Q(human) 1586368 Il23r interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:8549602|PMID:20978829 20140401 RGD DNA:SNP: :rs11805303(human) 1586368 Il23r interleukin 23 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:5108250|PMID:21193288 20110304 RGD mRNA:increased expression:lymph node 1586368 Il23r interleukin 23 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1351657 D RGD:8549601|PMID:21110900 20140401 RGD protein:increased expression:T cell: 1586369 Mgarp mitochondria-localized glutamic acid-rich protein gene DOID:630 genetic disease ISO RGD:1603194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586369 Mgarp mitochondria-localized glutamic acid-rich protein gene DOID:7148 rheumatoid arthritis ISO RGD:1603194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1586374 Smim5 small integral membrane protein 5 gene DOID:630 genetic disease ISO RGD:5132337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586382 Sox30 SRY-box transcription factor 30 gene DOID:12336 male infertility ISO RGD:1602491 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Male infertility 1586382 Sox30 SRY-box transcription factor 30 gene DOID:1324 lung cancer ISO RGD:1602491 D RGD:151660338|PMID:25435374 20220303 RGD DNA:hypermethylation:lung: 1586382 Sox30 SRY-box transcription factor 30 gene DOID:1324 lung cancer exacerbates ISO RGD:1602491 D RGD:151660338|PMID:25435374 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1602491 D RGD:11535423|PMID:26330328 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1602491 D RGD:151660331|PMID:32443323 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1602491 D RGD:11535423|PMID:26330328 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:630 genetic disease ISO RGD:1602491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586382 Sox30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602491 D RGD:151660341|PMID:30312695 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1602491 D RGD:151660341|PMID:30312695 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602491 D RGD:151660333|PMID:29739711 20220303 RGD associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: : 1586382 Sox30 SRY-box transcription factor 30 gene DOID:9005172 Lung Neoplasms ISO RGD:1602491 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25435374 1586382 Sox30 SRY-box transcription factor 30 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1313914 D RGD:151660333|PMID:29739711 20220303 RGD 1586382 Sox30 SRY-box transcription factor 30 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1313914 D RGD:151660333|PMID:29739711 20220303 RGD 1586383 Gpr21 G protein-coupled receptor 21 gene DOID:630 genetic disease ISO RGD:1351876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586386 Trabd2b TraB domain containing 2B gene DOID:630 genetic disease ISO RGD:6770286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586391 Ccdc62 coiled-coil domain containing 62 gene DOID:630 genetic disease ISO RGD:1603292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586391 Ccdc62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:7240710 20220406 OMIM 1586391 Ccdc62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 67 PMID:31985809 1586401 Prdm12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:7240710 20160914 OMIM 1586401 Prdm12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HSAN VIII | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII PMID:17576681|PMID:25741868|PMID:25891934|PMID:26005867|PMID:28492532|PMID:32409124|PMID:32828702|PMID:33884296|PMID:9536098 1586401 Prdm12 PR/SET domain 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1586401 Prdm12 PR/SET domain 12 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1351660 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1586401 Prdm12 PR/SET domain 12 gene DOID:630 genetic disease ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1586401 Prdm12 PR/SET domain 12 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1351660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26005867 1586401 Prdm12 PR/SET domain 12 gene DOID:9273 citrullinemia ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 1586415 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1586415 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0080600 COVID-19 ISO RGD:1604738 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1586415 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1586415 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:1059 intellectual disability ISO RGD:1604738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1586415 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:630 genetic disease ISO RGD:1604738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586415 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604738 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 1586419 Tgfbr3l transforming growth factor beta receptor 3 like gene DOID:0080490 mucolipidosis type IV ISO RGD:6770737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1586419 Tgfbr3l transforming growth factor beta receptor 3 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:6770737 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1586419 Tgfbr3l transforming growth factor beta receptor 3 like gene DOID:630 genetic disease ISO RGD:6770737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0050453 lissencephaly ISO RGD:1313480 D RGD:11065022|PMID:17559086 20160902 RGD DNA:missense mutation:exonp.G726R (c.2176G>A) (human) 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1313480 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1313480 D RGD:11532761|PMID:15894594 20160907 RGD DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human) 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1313480 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pagon syndrome PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313480 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1313480 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313480 D RGD:11532762|PMID:17923109 20160907 RGD DNA:missense mutation:exon:p.T184M, (c.551C>T) (human) 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24183756|PMID:25741868|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:30060766|PMID:31127727|PMID:32528171|PMID:33200426|PMID:34413876 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:7240710 20130221 OMIM 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25741868|PMID:26467025|PMID:27447704|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:31127727|PMID:32404165|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:9536098 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:15894594|PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33200426|PMID:34413876 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:7240710 20170802 OMIM 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25267602|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27447704|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28688748|PMID:28973083|PMID:28980384|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:35628876|PMID:9536098 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1313480 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:7240710 20130221 OMIM 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED PMID:16701995|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18513969|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:17923109|PMID:25214167|PMID:25741868|PMID:27447704|PMID:28492532|PMID:28973083|PMID:30060766|PMID:32528171|PMID:33176815|PMID:34413876 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28815891 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:9884 muscular dystrophy ISO RGD:1313480 D RGD:11532760|PMID:17634419 20160907 RGD DNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human) 1586427 Pomt2 protein-O-mannosyltransferase 2 gene DOID:9884 muscular dystrophy ISO RGD:1313480 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 1586458 Wbp2nl WBP2 N-terminal like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1586458 Wbp2nl WBP2 N-terminal like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604730 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1586458 Wbp2nl WBP2 N-terminal like gene DOID:0112318 Schindler disease type 1 ISO RGD:1604730 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 1586458 Wbp2nl WBP2 N-terminal like gene DOID:0112319 Kanzaki disease ISO RGD:1604730 D RGD:8554872 20211019 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 1586458 Wbp2nl WBP2 N-terminal like gene DOID:1059 intellectual disability ISO RGD:1604730 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1586458 Wbp2nl WBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1604730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586463 Wdr36 WD repeat domain 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1586463 Wdr36 WD repeat domain 36 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1313630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:15677485|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 1586463 Wdr36 WD repeat domain 36 gene DOID:1067 open-angle glaucoma ISO RGD:1313630 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21059646 1586463 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma ISO RGD:1313630 D RGD:8548463|PMID:16723468 20140305 RGD 1586463 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25741868|PMID:28492532 1586463 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1313630 D RGD:8548466|PMID:16876519 20140305 RGD DNA:polymorphism:cds:p.D658G 1586463 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1313630 D RGD:8548465|PMID:15677485 20140305 RGD DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human) 1586463 Wdr36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:8548460|PMID:22025897 20140305 RGD DNA:polymorphism:exon:rs10038177(human) 1586463 Wdr36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:8548461|PMID:19347049 20140305 RGD DNA:haplotype::rs13153937, rs10038177, rs11241095 (human) 1586463 Wdr36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:8548462|PMID:17960130 20140305 RGD DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human) 1586463 Wdr36 WD repeat domain 36 gene DOID:2841 asthma ISO RGD:1313630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 1586463 Wdr36 WD repeat domain 36 gene DOID:630 genetic disease ISO RGD:1313630 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1586463 Wdr36 WD repeat domain 36 gene DOID:8466 retinal degeneration ISO RGD:1550247 D RGD:8548464|PMID:20631153 20140305 RGD DNA:deletion:cds: 1586463 Wdr36 WD repeat domain 36 gene DOID:9002189 High Myopia ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 1586463 Wdr36 WD repeat domain 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313630 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586463 Wdr36 WD repeat domain 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1586463 Wdr36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:7240710 20130221 OMIM 1586463 Wdr36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, G PMID:15677485|PMID:16723468|PMID:17353431|PMID:17563723|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 1586478 Il31ra interleukin 31 receptor A gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1344882 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1586478 Il31ra interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:7240710 20140903 OMIM 1586478 Il31ra interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 PMID:19690585|PMID:25741868 1586478 Il31ra interleukin 31 receptor A gene DOID:630 genetic disease ISO RGD:1344882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586478 Il31ra interleukin 31 receptor A gene DOID:9000998 Brain Injuries ISO RGD:1344882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1586478 Il31ra interleukin 31 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344882 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586479 Tslp thymic stromal lymphopoietin gene DOID:0050211 swine influenza treatment ISO RGD:1621562 D RGD:38549590|PMID:32060507 20200902 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:0060496 respiratory allergy ISO RGD:1604556 D RGD:11554173 20170725 CTD CTD Direct Evidence: therapeutic PMID:28329851 1586479 Tslp thymic stromal lymphopoietin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1586479 Tslp thymic stromal lymphopoietin gene DOID:10112 sleeping sickness susceptibility ISO RGD:1621562 D RGD:38549587|PMID:28769924 20200902 RGD protein:increased expression:serum (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:10459 common cold ISO RGD:1604556 D RGD:38596342|PMID:28471975 20200904 RGD protein:increased expression:nasal mucus (human) 1586479 Tslp thymic stromal lymphopoietin gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1621562 D RGD:38549592|PMID:11920357 20200902 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:12365 malaria ISO RGD:1621562 D RGD:38596344|PMID:28955823 20200904 RGD mRNA:altered expression:multiple (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:1252 trichuriasis susceptibility ISO RGD:1621562 D RGD:38549593|PMID:19273626 20200903 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1604556 D RGD:38596342|PMID:28471975 20200904 RGD protein:increased expression:nasal mucus (human) 1586479 Tslp thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1621562 D RGD:38549376|PMID:27156176 20200901 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease sexual_dimorphism ISO RGD:1621562 D RGD:38596346|PMID:31076663 20200905 RGD mRNA:increased expression:lung (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:13922 eosinophilic esophagitis ISO RGD:1604556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20208534 1586479 Tslp thymic stromal lymphopoietin gene DOID:2841 asthma ISO RGD:1604556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804549 1586479 Tslp thymic stromal lymphopoietin gene DOID:2917 cryoglobulinemia ISS RGD:1621562 D RGD:13592920 20180518 MouseDO 1586479 Tslp thymic stromal lymphopoietin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1604556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 1586479 Tslp thymic stromal lymphopoietin gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1621562 D RGD:38596345|PMID:30187507 20200904 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:3107 toxascariasis ISO RGD:1621562 D RGD:38596353|PMID:24327787 20200906 RGD mRNA:increased expression:multiple (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis ISO RGD:1604556 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16880407|PMID:22355542|PMID:23688403|PMID:27869817 1586479 Tslp thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis treatment ISO RGD:1621562 D RGD:38549374|PMID:29310423 20201222 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:630 genetic disease ISO RGD:1604556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586479 Tslp thymic stromal lymphopoietin gene DOID:684 hepatocellular carcinoma ISO RGD:1604556 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1586479 Tslp thymic stromal lymphopoietin gene DOID:718 autoimmune hemolytic anemia ISS RGD:1621562 D RGD:13592920 20180518 MouseDO OMIM:205700 1586479 Tslp thymic stromal lymphopoietin gene DOID:9001542 Albuminuria ISO RGD:1604556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 1586479 Tslp thymic stromal lymphopoietin gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1621562 D RGD:38596354|PMID:22882457 20200907 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:11085671|PMID:26100084 20200904 RGD mRNA, protein:increased expression:lung,bronchoalveolar lavage fluid (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:38596334|PMID:28701507 20200903 RGD protein:increased expression:lung (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:9004055 Fungal Keratitis disease_progression ISO RGD:1621562 D RGD:38549371|PMID:29550278 20200901 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:9004055 Fungal Keratitis disease_progression ISO RGD:1621562 D RGD:38549574|PMID:30853520 20200902 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1604556 D RGD:38596329|PMID:25889007 20200903 RGD associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) 1586479 Tslp thymic stromal lymphopoietin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604556 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586479 Tslp thymic stromal lymphopoietin gene DOID:9004484 Sepsis disease_progression ISO RGD:1621562 D RGD:38596335|PMID:26934097 20200903 RGD protein:increased expression:peritoneum, plasma (mouse) 1586479 Tslp thymic stromal lymphopoietin gene DOID:9004484 Sepsis treatment ISO RGD:1621562 D RGD:38549375|PMID:24990542 20200901 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:9005372 Inflammation ISO RGD:1604556 D RGD:11554173 20170725 CTD CTD Direct Evidence: therapeutic PMID:28329851 1586479 Tslp thymic stromal lymphopoietin gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1604556 D RGD:38596342|PMID:28471975 20200904 RGD mRNA, protein:increased expression:nasal mucus (human) 1586479 Tslp thymic stromal lymphopoietin gene DOID:9006966 Pseudomonas Aeruginosa Keratitis severity ISO RGD:1621562 D RGD:38596331|PMID:30128494 20200903 RGD 1586479 Tslp thymic stromal lymphopoietin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1586479 Tslp thymic stromal lymphopoietin gene DOID:9784 trichinosis disease_progression ISO RGD:1621562 D RGD:38596337|PMID:23024277 20200904 RGD 1586482 Gxylt2 glucoside xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1625085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586487 Smim45 small integral membrane protein 45 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:6892816 D RGD:8554872 20210525 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:1063 interstitial nephritis ISO RGD:1353511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1618405 D RGD:4891417|PMID:11134301 20110112 RGD mRNA:increased expression:lung 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353511 D RGD:4145472|PMID:19865101 20150406 RGD DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2527 nephrosis IEP D RGD:4891422|PMID:10867541 20110112 RGD 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:1353511 D RGD:4891420|PMID:20455898 20110112 RGD protein:increased expression:respiratory system fluid/secretion 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:289 endometriosis ISO RGD:1353511 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis IEP D RGD:8693624|PMID:11157384 20110112 RGD 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1353511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1618405 D RGD:30309221|PMID:15356152 20200619 RGD mRNA: increased expression:lung (mouse) 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1618405 D RGD:4891409|PMID:18703681 20110112 RGD mRNA:increased expression:lung, dendritic cell 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353511 D RGD:4891408|PMID:19057661 20110112 RGD DNA:SNP: :multiple (human) 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353511 D RGD:4891410|PMID:16864713 20110112 RGD DNA:SNP:enhancer:rs2282691 (human) 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1353511 D RGD:4891408|PMID:19057661 20110112 RGD DNA:SNP: :rs159294, rs210837, rs10491110 (human) 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:1353511 D RGD:4145109|PMID:17982926 20110112 RGD mRNA:increased expression:nasal cavity epithelium 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1353511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:1353511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22507635 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1618405 D RGD:11344640|PMID:26569409 20210421 RGD mRNA:increased expression:liver (mouse) 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:9001472 Nasal Polyps ISO RGD:1353511 D RGD:4891418|PMID:20598643 20110112 RGD associated with Sinusitis 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1618405 D RGD:4145441|PMID:12600821 20110112 RGD associated with Schistosomiasis mansoni 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4145472|PMID:19865101 20150406 RGD mRNA:decreased expression:lymph node 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353511 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586495 Ccl1 C-C motif chemokine ligand 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:1618405 D RGD:4891412|PMID:12707363 20110112 RGD associated with Asthma 1586500 Tcf23 transcription factor 23 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1586500 Tcf23 transcription factor 23 gene DOID:630 genetic disease ISO RGD:1606698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586501 C19h16orf46 similar to human chromosome 16 open reading frame 46 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1345260 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 1586501 C19h16orf46 similar to human chromosome 16 open reading frame 46 gene DOID:630 genetic disease ISO RGD:1345260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586533 Asb17 ankyrin repeat and SOCS box-containing 17 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1343895 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 1586533 Asb17 ankyrin repeat and SOCS box-containing 17 gene DOID:630 genetic disease ISO RGD:1343895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586539 Tvp23b trans-golgi network vesicle protein 23 homolog B gene DOID:0050777 Joubert syndrome ISO RGD:1314909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1586539 Tvp23b trans-golgi network vesicle protein 23 homolog B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1314909 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1586539 Tvp23b trans-golgi network vesicle protein 23 homolog B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1314909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1586539 Tvp23b trans-golgi network vesicle protein 23 homolog B gene DOID:12849 autistic disorder ISO RGD:1314909 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1586539 Tvp23b trans-golgi network vesicle protein 23 homolog B gene DOID:630 genetic disease ISO RGD:1314909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586551 Brap BRCA1 associated protein gene DOID:5844 myocardial infarction ISO RGD:1348068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198608 1586551 Brap BRCA1 associated protein gene DOID:630 genetic disease ISO RGD:1348068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586598 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1320080 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1586598 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586598 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320081 D RGD:1642731|PMID:17351624 20071010 RGD 1586598 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320080 D RGD:1642744|PMID:11532984 20071011 RGD DNA:SNP: :p.T228A (human) 1586598 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:9970 obesity ISO RGD:1320080 D RGD:1642744|PMID:11532984 20071011 RGD DNA:SNP: :p.T228A (human) 1586605 Ccdc13 coiled-coil domain containing 13 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1350707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1586605 Ccdc13 coiled-coil domain containing 13 gene DOID:630 genetic disease ISO RGD:1350707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586615 B3galt2 Beta-1,3-galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:25444225|PMID:28492532|PMID:29040582 1586615 B3galt2 Beta-1,3-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1347261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586615 B3galt2 Beta-1,3-galactosyltransferase 2 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1347261 D RGD:8554872 20160607 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:25637381 1586615 B3galt2 Beta-1,3-galactosyltransferase 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:25741868|PMID:28774260 1586615 B3galt2 Beta-1,3-galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347261 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1586621 Gapt Grb2-binding adaptor protein, transmembrane gene DOID:630 genetic disease ISO RGD:1604723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586621 Gapt Grb2-binding adaptor protein, transmembrane gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604723 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 1586637 Ryr1 ryanodine receptor 1 gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:0050646 distal arthrogryposis ISO RGD:1316413 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:0060249 scoliosis ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:17483490|PMID:18253926|PMID:19191329|PMID:19645060|PMID:21062345|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24091937|PMID:25741868|PMID:28492532|PMID:32899693|PMID:34106991 1586637 Ryr1 ryanodine receptor 1 gene DOID:0060260 ptosis ISO RGD:1316413 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Ptosis PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 1586637 Ryr1 ryanodine receptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1316413 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Tongue tie PMID:16835904|PMID:24033266|PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080000 muscular disease ISO RGD:1316413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080100 congenital myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29382405|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31407473|PMID:31559918|PMID:31680123|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:35535697|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1316413 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Agenesis of sacrum PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080718 GNE myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis PMID:20839240|PMID:21911697|PMID:22473935|PMID:22526018|PMID:23394784|PMID:23826317|PMID:24195946|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:28818389|PMID:30611313|PMID:30652412|PMID:31407473|PMID:31559918|PMID:31680123|PMID:32978841|PMID:34463354 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21514828|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25086907|PMID:25214167|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25558065|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30155738|PMID:30236257|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:28003660|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35535697|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205 1586637 Ryr1 ryanodine receptor 1 gene DOID:0080991 multiminicore disease susceptibility ISO RGD:1316413 D RGD:7240710 20230505 OMIM 1586637 Ryr1 ryanodine receptor 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21674524|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24950660|PMID:24951453|PMID:25214167|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461|PMID:34008892 1586637 Ryr1 ryanodine receptor 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1316413 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:25741868|PMID:28492532|PMID:29635721 1586637 Ryr1 ryanodine receptor 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 1586637 Ryr1 ryanodine receptor 1 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354 1586637 Ryr1 ryanodine receptor 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354 1586637 Ryr1 ryanodine receptor 1 gene DOID:11476 osteoporosis ISO RGD:1316413 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:11836 clubfoot ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16380615|PMID:17033962|PMID:17365175|PMID:17483490|PMID:18253|PMID:18253926|PMID:21911697|PMID:25741868|PMID:28492532|PMID:30611313|PMID:7299413 1586637 Ryr1 ryanodine receptor 1 gene DOID:13100 intracranial vasospasm ISO RGD:1316413 D RGD:329811998|PMID:21503806 20230519 RGD associated with Subarachnoid Hemorrhage; c.6178G>T(rs35364374)(human) 1586637 Ryr1 ryanodine receptor 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316413 D RGD:329812002|PMID:23972212 20230519 RGD protein:increased phosphorylation:vastus lateralis 1586637 Ryr1 ryanodine receptor 1 gene DOID:14717 centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:22473935|PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16835904|PMID:24033266|PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:1686 glaucoma ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16835904|PMID:24033266|PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:14570802|PMID:14708096|PMID:16917943 1586637 Ryr1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409 1586637 Ryr1 ryanodine receptor 1 gene DOID:3529 central core disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34809703|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:3529 central core disease susceptibility ISO RGD:1316413 D RGD:7240710 20230505 OMIM 1586637 Ryr1 ryanodine receptor 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1316413 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism PMID:17376685 1586637 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:33333461|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 1586637 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 1586637 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:423 myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738 1586637 Ryr1 ryanodine receptor 1 gene DOID:440 neuromuscular disease ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26019235|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:30842289|PMID:31680349|PMID:33190635|PMID:33333461|PMID:9536098 1586637 Ryr1 ryanodine receptor 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1586637 Ryr1 ryanodine receptor 1 gene DOID:543 dystonia ISO RGD:1316413 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12066726|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17033962|PMID:17081152|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:20142353|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23553484|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24195946|PMID:24433488|PMID:24706162|PMID:25268394|PMID:25517095|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25882082|PMID:25957634|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26381711|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27918309|PMID:28063098|PMID:28326467|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29382405|PMID:29635721|PMID:29792937|PMID:30155320|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30499100|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35535697|PMID:4149045|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:11695996|PMID:14570802|PMID:14708096|PMID:16917943|PMID:17707769|PMID:19191329|PMID:19191333|PMID:21485675|PMID:30329129 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21088110|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:214555645|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25356970|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33490280|PMID:33625594|PMID:34008892|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316414 D RGD:329811997|PMID:30236258 20230519 RGD 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:1316413 D RGD:7240710 20190502 OMIM 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia treatment ISO RGD:1316414 D RGD:329812000|PMID:34980804 20230519 RGD 1586637 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia treatment ISO RGD:1316414 D RGD:329812001|PMID:34257294 20230519 RGD 1586637 Ryr1 ryanodine receptor 1 gene DOID:8927 learning disability ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26019235|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:30842289|PMID:31680349|PMID:33190635|PMID:33333461|PMID:9536098 1586637 Ryr1 ryanodine receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:28779239 1586637 Ryr1 ryanodine receptor 1 gene DOID:9002119 Malignant Hypothermia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:14732627|PMID:16163667|PMID:16732084|PMID:16917943|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19191333|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21674524|PMID:22913516|PMID:22995991|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23558838|PMID:23628358|PMID:24195946|PMID:25735680|PMID:25741868|PMID:25957634|PMID:26467025|PMID:26994242|PMID:27153395|PMID:28003660|PMID:28492532|PMID:30611313|PMID:30724636|PMID:33333461|PMID:33458582 1586637 Ryr1 ryanodine receptor 1 gene DOID:9003163 Heart Block ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heart block PMID:16835904|PMID:24033266|PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:9003760 Myalgia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myalgia PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 1586637 Ryr1 ryanodine receptor 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316414 D RGD:329812001|PMID:34257294 20230519 RGD 1586637 Ryr1 ryanodine receptor 1 gene DOID:9004757 Axial Myopathy, Late-Onset ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial myopathy, late-onset PMID:23329375|PMID:24033266|PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:10888602|PMID:11709545|PMID:11741831|PMID:12565913|PMID:14670767|PMID:14732627|PMID:14985404|PMID:15731587|PMID:16163667|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16940308|PMID:17081152|PMID:17226826|PMID:17365175|PMID:17483490|PMID:17538032|PMID:17576681|PMID:18414213|PMID:18719443|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19807743|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25461839|PMID:25521991|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26994242|PMID:27147545|PMID:27153395|PMID:28003660|PMID:28326467|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29298851|PMID:29382405|PMID:30122538|PMID:30325262|PMID:30724636|PMID:31135626|PMID:31559918|PMID:31742715|PMID:32098966|PMID:32528171|PMID:9536098 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005532 Muscle Weakness ISO RGD:1316413 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 1586637 Ryr1 ryanodine receptor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:16835904|PMID:24033266|PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171 1586637 Ryr1 ryanodine receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:19191333|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:34106991 1586637 Ryr1 ryanodine receptor 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aorta coarctation PMID:16835904|PMID:24033266|PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316413 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 1586637 Ryr1 ryanodine receptor 1 gene DOID:9008675 Dyskinesias ISO RGD:1316413 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:9008965 Bronchomalacia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bronchomalacia PMID:16835904|PMID:24033266|PMID:25741868 1586637 Ryr1 ryanodine receptor 1 gene DOID:9008993 Myotonia ISO RGD:1316413 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:9410 panhypopituitarism ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Panhypopituitarism PMID:25741868|PMID:28492532 1586637 Ryr1 ryanodine receptor 1 gene DOID:9970 obesity ISO RGD:1316413 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 1586646 Shoc1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:7240710 20221109 OMIM 1586646 Shoc1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 75 PMID:32741963|PMID:32900840|PMID:35485979 1586661 Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 1586661 Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1586661 Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346401 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1586661 Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1346401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586661 Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346401 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1586661 Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346401 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1586664 Smlr1 small leucine-rich protein 1 gene DOID:630 genetic disease ISO RGD:7205347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586666 LOC686030 hypothetical protein LOC686030 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602399 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586677 Casq1 calsequestrin 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344349 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:423 myopathy ISO RGD:1344349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 1586677 Casq1 calsequestrin 1 gene DOID:630 genetic disease ISO RGD:1344349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:7240710 20170329 OMIM 1586677 Casq1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:16714317|PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314137|PMID:11976916 20091102 RGD protein:increased activity:skeletal muscle tissue 1586677 Casq1 calsequestrin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344349 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1586677 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:2314133|PMID:18269685 20091102 RGD DNA:snp: :rs617698(human) 1586677 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:2314135|PMID:15561963 20091102 RGD DNA:snps: :multiple 1586677 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:2314136|PMID:15561962 20091102 RGD DNA:snps: :multiple 1586677 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344349 D RGD:2314134|PMID:17681849 20091102 RGD DNA:snp: :rs2275703(human) 1586688 Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 gene DOID:0080600 COVID-19 ISO RGD:1350284 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1586688 Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 gene DOID:630 genetic disease ISO RGD:1350284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586688 Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350284 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1586688 Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1350284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1586710 Plekha2 pleckstrin homology domain containing A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1586710 Plekha2 pleckstrin homology domain containing A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1586710 Plekha2 pleckstrin homology domain containing A2 gene DOID:607 paraplegia ISO RGD:1352018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1586710 Plekha2 pleckstrin homology domain containing A2 gene DOID:630 genetic disease ISO RGD:1352018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586732 H3c13 H3 clustered histone 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1604125 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1586732 H3c13 H3 clustered histone 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604125 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1586738 Zfpl1 zinc finger protein-like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1586738 Zfpl1 zinc finger protein-like 1 gene DOID:1059 intellectual disability ISO RGD:1350269 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1586738 Zfpl1 zinc finger protein-like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1586738 Zfpl1 zinc finger protein-like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1586738 Zfpl1 zinc finger protein-like 1 gene DOID:3070 high grade glioma ISO RGD:1350269 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1586738 Zfpl1 zinc finger protein-like 1 gene DOID:630 genetic disease ISO RGD:1350269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586783 Teddm1b transmembrane epididymal protein 1B gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1586783 Teddm1b transmembrane epididymal protein 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1606464 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1586783 Teddm1b transmembrane epididymal protein 1B gene DOID:630 genetic disease ISO RGD:1606464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586783 Teddm1b transmembrane epididymal protein 1B gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606464 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1586783 Teddm1b transmembrane epididymal protein 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606464 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1586820 Gas1 growth arrest-specific 1 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345993 D RGD:8554872 20171003 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:20583177|PMID:21842183 1586820 Gas1 growth arrest-specific 1 gene DOID:4621 holoprosencephaly ISO RGD:1345993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17525797 1586820 Gas1 growth arrest-specific 1 gene DOID:630 genetic disease ISO RGD:1345993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586830 Proser2 proline and serine rich 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351835 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1586830 Proser2 proline and serine rich 2 gene DOID:630 genetic disease ISO RGD:1351835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586875 Prss55 serine protease 55 gene DOID:630 genetic disease ISO RGD:1603165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586875 Prss55 serine protease 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603165 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586880 Ankrd33 ankyrin repeat domain 33 gene DOID:630 genetic disease ISO RGD:1344617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586886 Rp1l1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:7240710 20130731 OMIM 1586886 Rp1l1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy PMID:12724644|PMID:20826268|PMID:22277662|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:24033266|PMID:24838559|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:32360662|PMID:33302505 1586886 Rp1l1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:7240710 20200408 OMIM 1586886 Rp1l1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 88 PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:31087526|PMID:31236346|PMID:31833436|PMID:32360662|PMID:33302505|PMID:33546218 1586886 Rp1l1 RP1 like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1319776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22277662|PMID:25324289|PMID:26355662|PMID:28492532 1586886 Rp1l1 RP1 like 1 gene DOID:4448 macular degeneration ISO RGD:1319776 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 1586886 Rp1l1 RP1 like 1 gene DOID:630 genetic disease ISO RGD:1319776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1586886 Rp1l1 RP1 like 1 gene DOID:8501 fundus dystrophy ISO RGD:1319776 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26782618|PMID:27623337|PMID:28492532|PMID:30025130 1586886 Rp1l1 RP1 like 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1319776 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1586886 Rp1l1 RP1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319776 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586886 Rp1l1 RP1 like 1 gene DOID:9008060 Ulnar/Fibular Ray Defect and Brachydactyly ISO RGD:1319776 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly PMID:28492532 1586888 Ap3s2 adaptor related protein complex 3 subunit sigma 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1350010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 1586888 Ap3s2 adaptor related protein complex 3 subunit sigma 2 gene DOID:2717 Bloom syndrome ISO RGD:1350010 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1586888 Ap3s2 adaptor related protein complex 3 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1350010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586888 Ap3s2 adaptor related protein complex 3 subunit sigma 2 gene DOID:9256 colorectal cancer ISO RGD:1350010 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1586888 Ap3s2 adaptor related protein complex 3 subunit sigma 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 1586939 Cgas cyclic GMP-AMP synthase gene DOID:3659 sialuria ISO RGD:1353865 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1586939 Cgas cyclic GMP-AMP synthase gene DOID:630 genetic disease ISO RGD:1353865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586947 Ddx43 DEAD-box helicase 43 gene DOID:3659 sialuria ISO RGD:1345973 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1586947 Ddx43 DEAD-box helicase 43 gene DOID:630 genetic disease ISO RGD:1345973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586980 Reep2 receptor accessory protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346917 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1586980 Reep2 receptor accessory protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1586980 Reep2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72 ISO RGD:1346917 D RGD:7240710 20140911 OMIM 1586980 Reep2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72 ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal dominant PMID:17576681|PMID:24388663|PMID:24482476|PMID:25741868|PMID:28491902|PMID:28492532|PMID:33526816|PMID:9536098 1586980 Reep2 receptor accessory protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1586980 Reep2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1586980 Reep2 receptor accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346917 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1586980 Reep2 receptor accessory protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1586982 LOC682102 hypothetical protein LOC682102 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602848 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1586982 LOC682102 hypothetical protein LOC682102 gene DOID:630 genetic disease ISO RGD:1602848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586985 Efcab12 EF-hand calcium binding domain 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1586985 Efcab12 EF-hand calcium binding domain 12 gene DOID:630 genetic disease ISO RGD:1602666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1586985 Efcab12 EF-hand calcium binding domain 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1586985 Efcab12 EF-hand calcium binding domain 12 gene DOID:9270 alkaptonuria ISO RGD:1602666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1586993 Sf3b5 splicing factor 3b, subunit 5 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1345762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 1586999 LOC680885 hypothetical protein LOC680885 gene DOID:11372 megacolon ISO RGD:1345709 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1586999 LOC680885 hypothetical protein LOC680885 gene DOID:5419 schizophrenia ISO RGD:1345709 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1586999 LOC680885 hypothetical protein LOC680885 gene DOID:630 genetic disease ISO RGD:1345709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587001 Lrtm2 leucine-rich repeats and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1605448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587001 Lrtm2 leucine-rich repeats and transmembrane domains 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605448 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1587009 Rnf223 ring finger protein 223 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587009 Rnf223 ring finger protein 223 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5132242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1587009 Rnf223 ring finger protein 223 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5132242 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1587009 Rnf223 ring finger protein 223 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5132242 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1587009 Rnf223 ring finger protein 223 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5132242 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1587009 Rnf223 ring finger protein 223 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587009 Rnf223 ring finger protein 223 gene DOID:0111934 immunodeficiency 38 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587009 Rnf223 ring finger protein 223 gene DOID:0111935 immunodeficiency 16 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587009 Rnf223 ring finger protein 223 gene DOID:630 genetic disease ISO RGD:5132242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587009 Rnf223 ring finger protein 223 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132242 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587009 Rnf223 ring finger protein 223 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5132242 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1587009 Rnf223 ring finger protein 223 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587016 Tmem191c transmembrane protein 191C gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1587016 Tmem191c transmembrane protein 191C gene DOID:11198 DiGeorge syndrome ISO RGD:1641960 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1587016 Tmem191c transmembrane protein 191C gene DOID:12849 autistic disorder ISO RGD:1641960 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587016 Tmem191c transmembrane protein 191C gene DOID:630 genetic disease ISO RGD:1641960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587018 Tex13b testis expressed 13B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1587018 Tex13b testis expressed 13B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347068 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1587018 Tex13b testis expressed 13B gene DOID:12849 autistic disorder ISO RGD:1347068 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587018 Tex13b testis expressed 13B gene DOID:630 genetic disease ISO RGD:1347068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587021 Treml4 triggering receptor expressed on myeloid cells-like 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1587021 Treml4 triggering receptor expressed on myeloid cells-like 4 gene DOID:630 genetic disease ISO RGD:1347933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587021 Treml4 triggering receptor expressed on myeloid cells-like 4 gene DOID:905 Zellweger syndrome ISO RGD:1347933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1587023 Eppk1 epiplakin 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1587023 Eppk1 epiplakin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1587023 Eppk1 epiplakin 1 gene DOID:2661 myoepithelioma ISO RGD:1343625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1587023 Eppk1 epiplakin 1 gene DOID:4621 holoprosencephaly ISO RGD:1343625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1587023 Eppk1 epiplakin 1 gene DOID:630 genetic disease ISO RGD:1343625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587023 Eppk1 epiplakin 1 gene DOID:9001341 Chloracne ISO RGD:1343625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1587025 Tmem40 transmembrane protein 40 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1343546 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 1587025 Tmem40 transmembrane protein 40 gene DOID:0080690 RASopathy ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1587025 Tmem40 transmembrane protein 40 gene DOID:630 genetic disease ISO RGD:1343546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587039 Treml2 triggering receptor expressed on myeloid cells-like 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1587039 Treml2 triggering receptor expressed on myeloid cells-like 2 gene DOID:630 genetic disease ISO RGD:1353340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587039 Treml2 triggering receptor expressed on myeloid cells-like 2 gene DOID:905 Zellweger syndrome ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1587048 Cul7 cullin 7 gene DOID:0050444 infantile Refsum disease ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1587048 Cul7 cullin 7 gene DOID:0060241 3-M syndrome ISO RGD:1314380 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1587048 Cul7 cullin 7 gene DOID:0060241 3-M syndrome ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome PMID:16142236|PMID:17675530|PMID:19225462|PMID:21396581|PMID:21548126|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:28492532|PMID:28969986|PMID:31343991|PMID:31589614|PMID:34006472 1587048 Cul7 cullin 7 gene DOID:12849 autistic disorder ISO RGD:1314380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 1587048 Cul7 cullin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1314380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 1587048 Cul7 cullin 7 gene DOID:630 genetic disease ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16142236|PMID:16199547|PMID:17675530|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 1587048 Cul7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:7240710 20190327 OMIM 1587048 Cul7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:16142236|PMID:17675530|PMID:19225462|PMID:21383554|PMID:21396581|PMID:22325252|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:27182040|PMID:28492532|PMID:28969986|PMID:30980518|PMID:31343991|PMID:31589614|PMID:34006472 1587048 Cul7 cullin 7 gene DOID:9007661 Dwarfism ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 1587048 Cul7 cullin 7 gene DOID:905 Zellweger syndrome ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605820 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1605820 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:0112274 X-linked spermatogenic failure 3 ISO RGD:1605820 D RGD:7240710 20210310 OMIM 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:0112274 X-linked spermatogenic failure 3 ISO RGD:1605820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3 PMID:25741868|PMID:33472045 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:12336 male infertility ISS RGD:1620260 D RGD:13592920 20210812 MouseDO 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:12849 autistic disorder ISO RGD:1605820 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:630 genetic disease ISO RGD:1605820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605820 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587070 Cfap47 cilia and flagella associated protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1605820 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1587073 Lsmem1 leucine-rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606916 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587073 Lsmem1 leucine-rich single-pass membrane protein 1 gene DOID:5419 schizophrenia ISO RGD:1606916 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1587073 Lsmem1 leucine-rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1606916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587073 Lsmem1 leucine-rich single-pass membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606916 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602432 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:630 genetic disease ISO RGD:1602432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602432 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587099 Ccdc27 coiled-coil domain containing 27 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1587105 Ldlrad4 low density lipoprotein receptor class A domain containing 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313099 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1587105 Ldlrad4 low density lipoprotein receptor class A domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1313099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587105 Ldlrad4 low density lipoprotein receptor class A domain containing 4 gene DOID:630 genetic disease ISO RGD:1313099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587111 Romo1 reactive oxygen species modulator 1 gene DOID:5199 ureteral obstruction IEP D RGD:13463462|PMID:28791399 20171215 RGD mRNA,protein:increased expression:kidney 1587111 Romo1 reactive oxygen species modulator 1 gene DOID:630 genetic disease ISO RGD:1349152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587117 Alkal2 ALK and LTK ligand 2 gene DOID:630 genetic disease ISO RGD:1602961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587119 Lypd6 Ly6/Plaur domain containing 6 gene DOID:630 genetic disease ISO RGD:1605579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587131 Pjvk pejvakin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352291 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587|PMID:32747562 1587131 Pjvk pejvakin gene DOID:0090048 dystonia 16 ISO RGD:1352291 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:24033266|PMID:28492532 1587131 Pjvk pejvakin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1352291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 1587131 Pjvk pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:7240710 20130221 OMIM 1587131 Pjvk pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 PMID:16804542|PMID:17301963|PMID:17329413|PMID:17373699|PMID:17718865|PMID:21935370|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27344577|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562|PMID:35052489 1587131 Pjvk pejvakin gene DOID:543 dystonia ISO RGD:1352291 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:28492532 1587131 Pjvk pejvakin gene DOID:9004538 Hearing Loss ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 1587131 Pjvk pejvakin gene DOID:9008681 Deafness ISO RGD:1352291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17329413 1587131 Pjvk pejvakin gene DOID:9008681 Deafness ISO RGD:1352291 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587|PMID:32747562 1587151 Elovl1 ELOVL fatty acid elongase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349015 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1587151 Elovl1 ELOVL fatty acid elongase 1 gene DOID:630 genetic disease ISO RGD:1349015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587151 Elovl1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:7240710 20190918 OMIM 1587151 Elovl1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features PMID:28492532|PMID:29496980|PMID:30487246|PMID:35379526 1587163 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346796 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1587163 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346796 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587163 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1346796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587174 Vrtn vertebrae development associated gene DOID:1059 intellectual disability ISO RGD:1347442 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1587174 Vrtn vertebrae development associated gene DOID:630 genetic disease ISO RGD:1347442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587179 Nemp1 nuclear envelope integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1603697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:7240710 20170510 OMIM 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25704603|PMID:25741868|PMID:28492532 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:12849 autistic disorder ISO RGD:1603474 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:2843 long QT syndrome ISO RGD:1603474 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1587185 Slc6a17 solute carrier family 6 member 17 gene DOID:630 genetic disease ISO RGD:1603474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1587195 Or2a52 olfactory receptor family 2 subfamily A member 52 gene DOID:630 genetic disease ISO RGD:1348102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587197 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:0080690 RASopathy ISO RGD:1352233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1587197 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:630 genetic disease ISO RGD:1352233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587197 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:7240710 20190315 OMIM 1587197 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 5 PMID:29606300|PMID:30628060 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1347083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1347083 D RGD:150429736|PMID:31483290 20211221 RGD 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:1347083 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25741868 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:7240710 20190315 OMIM 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation PMID:22726846|PMID:22832583|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29069077|PMID:29276005|PMID:29926297|PMID:30352910|PMID:30981987|PMID:36672956 1587205 Kmt2c lysine methyltransferase 2C gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1347083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 1587205 Kmt2c lysine methyltransferase 2C gene DOID:10283 prostate cancer ISO RGD:1347083 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 1587205 Kmt2c lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:150537042|PMID:23991983 20211221 RGD DNA:SNPs, haplotypes: rs6943984, rs4725443 (human) 1587205 Kmt2c lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:150537043|PMID:24965397 20211221 RGD DNA:missense mutation:CDS:S3660L (human) 1587205 Kmt2c lysine methyltransferase 2C gene DOID:1059 intellectual disability ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:24728327|PMID:25326635|PMID:25741868|PMID:28492532 1587205 Kmt2c lysine methyltransferase 2C gene DOID:10907 microcephaly ISO RGD:1347083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1587205 Kmt2c lysine methyltransferase 2C gene DOID:11054 urinary bladder cancer ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1587205 Kmt2c lysine methyltransferase 2C gene DOID:11372 megacolon ISO RGD:1347083 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1587205 Kmt2c lysine methyltransferase 2C gene DOID:12849 autistic disorder ISO RGD:1347083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 1587205 Kmt2c lysine methyltransferase 2C gene DOID:1324 lung cancer ISO RGD:1347083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:28492532 1587205 Kmt2c lysine methyltransferase 2C gene DOID:1749 squamous cell carcinoma severity ISO RGD:1347083 D RGD:9588232|PMID:25303977 20141022 RGD DNA:mutations:multiple (human) 1587205 Kmt2c lysine methyltransferase 2C gene DOID:2600 laryngeal carcinoma ISO RGD:1347083 D RGD:151356763|PMID:25633166 20220215 RGD mRNA:decreased expression:larynx 1587205 Kmt2c lysine methyltransferase 2C gene DOID:2671 transitional cell carcinoma ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 1587205 Kmt2c lysine methyltransferase 2C gene DOID:2843 long QT syndrome ISO RGD:1347083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1587205 Kmt2c lysine methyltransferase 2C gene DOID:299 adenocarcinoma ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1587205 Kmt2c lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 1587205 Kmt2c lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9588233|PMID:25151357 20141022 RGD DNA:mutations:multiple (human) 1587205 Kmt2c lysine methyltransferase 2C gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347083 D RGD:150523771|PMID:33665490 20220215 RGD 1587205 Kmt2c lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347083 D RGD:151356760|PMID:32867667 20220215 RGD 1587205 Kmt2c lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma onset ISO RGD:1347083 D RGD:151356761|PMID:30821106 20220215 RGD 1587205 Kmt2c lysine methyltransferase 2C gene DOID:4927 Klatskin's tumor onset ISO RGD:1347083 D RGD:126848756|PMID:33387086 20210428 RGD DNA:mutations 1587205 Kmt2c lysine methyltransferase 2C gene DOID:4947 cholangiocarcinoma ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 1587205 Kmt2c lysine methyltransferase 2C gene DOID:5409 lung small cell carcinoma ISO RGD:1347083 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 1587205 Kmt2c lysine methyltransferase 2C gene DOID:5517 stomach carcinoma severity ISO RGD:1347083 D RGD:9588234|PMID:25222251 20141022 RGD protein:decreased expression:stomach (human) 1587205 Kmt2c lysine methyltransferase 2C gene DOID:630 genetic disease ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 1587205 Kmt2c lysine methyltransferase 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 1587205 Kmt2c lysine methyltransferase 2C gene DOID:7148 rheumatoid arthritis treatment IMP D RGD:151356764|PMID:33914205 20220215 RGD 1587205 Kmt2c lysine methyltransferase 2C gene DOID:8541 Sezary's disease ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9000217 Stomach Neoplasms ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347083 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347083 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347083 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9008086 Developmental Disabilities ISO RGD:1347083 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22832583|PMID:25741868|PMID:29926297|PMID:30352910|PMID:30981987 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1347083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9119 acute myeloid leukemia ISO RGD:1347083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24794707 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9261 nasopharynx carcinoma ISO RGD:1347083 D RGD:151356762|PMID:31646828 20220215 RGD 1587205 Kmt2c lysine methyltransferase 2C gene DOID:9538 multiple myeloma ISO RGD:1347083 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1587243 Cbx4 chromobox 4 gene DOID:630 genetic disease ISO RGD:1348844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587243 Cbx4 chromobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348844 D RGD:9586738|PMID:24838576 20141003 RGD 1587243 Cbx4 chromobox 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1348844 D RGD:9586739|PMID:23943028 20141003 RGD protein:increased expression:cytoplasm: 1587243 Cbx4 chromobox 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348844 D RGD:9586738|PMID:24838576 20141003 RGD associated with Carcinoma, Hepatocellular; 1587243 Cbx4 chromobox 4 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1587248 Mmrn1 multimerin 1 gene DOID:630 genetic disease ISO RGD:1352887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587253 Hoxa7 homeobox A7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343560 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587253 Hoxa7 homeobox A7 gene DOID:630 genetic disease ISO RGD:1343560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587258 Pcdhga12 protocadherin gamma subfamily A, 12 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352537 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1587258 Pcdhga12 protocadherin gamma subfamily A, 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352537 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1587258 Pcdhga12 protocadherin gamma subfamily A, 12 gene DOID:630 genetic disease ISO RGD:1352537 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587258 Pcdhga12 protocadherin gamma subfamily A, 12 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1352537 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1587258 Pcdhga12 protocadherin gamma subfamily A, 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352537 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587258 Pcdhga12 protocadherin gamma subfamily A, 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352537 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1587259 Pcdhga2 protocadherin gamma subfamily A, 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345135 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1587259 Pcdhga2 protocadherin gamma subfamily A, 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1587259 Pcdhga2 protocadherin gamma subfamily A, 2 gene DOID:630 genetic disease ISO RGD:1345135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587259 Pcdhga2 protocadherin gamma subfamily A, 2 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1345135 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1587259 Pcdhga2 protocadherin gamma subfamily A, 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345135 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587259 Pcdhga2 protocadherin gamma subfamily A, 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1587260 Ankrd29 ankyrin repeat domain 29 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1587260 Ankrd29 ankyrin repeat domain 29 gene DOID:1059 intellectual disability ISO RGD:1317259 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587260 Ankrd29 ankyrin repeat domain 29 gene DOID:630 genetic disease ISO RGD:1317259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587265 Prm3 protamine 3 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 1587265 Prm3 protamine 3 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 1587265 Prm3 protamine 3 gene DOID:5812 MHC class II deficiency ISO RGD:1345034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1587265 Prm3 protamine 3 gene DOID:630 genetic disease ISO RGD:1345034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587294 Polr3k RNA polymerase III subunit K gene DOID:630 genetic disease ISO RGD:1350025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587294 Polr3k RNA polymerase III subunit K gene DOID:9000217 Stomach Neoplasms ISO RGD:1350025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1587294 Polr3k RNA polymerase III subunit K gene DOID:9000918 Disease Progression ISO RGD:1350025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1587294 Polr3k RNA polymerase III subunit K gene DOID:9004862 Hypomyelinating Leukodystrophy 21 ISO RGD:1350025 D RGD:7240710 20210526 OMIM 1587294 Polr3k RNA polymerase III subunit K gene DOID:9004862 Hypomyelinating Leukodystrophy 21 ISO RGD:1350025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 PMID:25741868|PMID:30584594 1587326 Polr2a RNA polymerase II subunit A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1587326 Polr2a RNA polymerase II subunit A gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1352013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:25741868 1587326 Polr2a RNA polymerase II subunit A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1352013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1587326 Polr2a RNA polymerase II subunit A gene DOID:1059 intellectual disability ISO RGD:1352013 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1587326 Polr2a RNA polymerase II subunit A gene DOID:12177 common variable immunodeficiency ISO RGD:1352013 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1587326 Polr2a RNA polymerase II subunit A gene DOID:12858 Huntington's disease ISO RGD:1557071 D RGD:10043799|PMID:20089533 20180213 RGD 1587326 Polr2a RNA polymerase II subunit A gene DOID:2729 dyskeratosis congenita ISO RGD:1352013 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1587326 Polr2a RNA polymerase II subunit A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1587326 Polr2a RNA polymerase II subunit A gene DOID:3320 Tay-Sachs disease ISO RGD:1352013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868 1587326 Polr2a RNA polymerase II subunit A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1352013 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1587326 Polr2a RNA polymerase II subunit A gene DOID:630 genetic disease ISO RGD:1352013 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:31353023 1587326 Polr2a RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:7240710 20191030 OMIM 1587326 Polr2a RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:24033266|PMID:25741868|PMID:31353023|PMID:33665635 1587326 Polr2a RNA polymerase II subunit A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 1587326 Polr2a RNA polymerase II subunit A gene DOID:9005600 Infarction IEP D RGD:9681722|PMID:22535878 20141204 RGD 1587326 Polr2a RNA polymerase II subunit A gene DOID:9008582 Developmental Disease ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1587340 Etaa1 ETAA1 activator of ATR kinase gene DOID:1793 pancreatic cancer ISO RGD:1604009 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 1587340 Etaa1 ETAA1 activator of ATR kinase gene DOID:630 genetic disease ISO RGD:1604009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587344 Noct nocturnin gene DOID:630 genetic disease ISO RGD:1349348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587344 Noct nocturnin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349348 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1587346 Nnt nicotinamide nucleotide transhydrogenase gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1351355 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22634753 1587346 Nnt nicotinamide nucleotide transhydrogenase gene DOID:630 genetic disease ISO RGD:1351355 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1587346 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351355 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587346 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:7240710 20140911 OMIM 1587346 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 4 PMID:22634753|PMID:23474776|PMID:25741868|PMID:26070314|PMID:26548497|PMID:27129361|PMID:28492532|PMID:33223529 1587346 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9970 obesity IEP D RGD:13513980|PMID:25761734 20180315 RGD protein:decreased expression:gastrocnemius, soleus 1587347 Wdr11 WD repeat domain 11 gene DOID:0050834 CHARGE syndrome ISO RGD:1318273 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:30711679 1587347 Wdr11 WD repeat domain 11 gene DOID:0060340 ciliopathy ISS RGD:1618197 D RGD:13592920 20180712 MouseDO 1587347 Wdr11 WD repeat domain 11 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 1587347 Wdr11 WD repeat domain 11 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1318273 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1587347 Wdr11 WD repeat domain 11 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 1587347 Wdr11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:7240710 20140903 OMIM 1587347 Wdr11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia PMID:20887964|PMID:25741868|PMID:28492532|PMID:29263200 1587347 Wdr11 WD repeat domain 11 gene DOID:10907 microcephaly ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:34413497 1587347 Wdr11 WD repeat domain 11 gene DOID:13938 amenorrhea ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 1587347 Wdr11 WD repeat domain 11 gene DOID:1921 Klinefelter syndrome ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 1587347 Wdr11 WD repeat domain 11 gene DOID:303 substance-related disorder ISO RGD:1318273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1587347 Wdr11 WD repeat domain 11 gene DOID:3614 Kallmann syndrome ISS RGD:1618197 D RGD:13592920 20180712 MouseDO 1587347 Wdr11 WD repeat domain 11 gene DOID:5419 schizophrenia ISO RGD:1318273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1587347 Wdr11 WD repeat domain 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318273 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1587347 Wdr11 WD repeat domain 11 gene DOID:630 genetic disease ISO RGD:1318273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1587347 Wdr11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:7240710 20230215 OMIM 1587347 Wdr11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 78 PMID:25741868|PMID:34413497 1587363 Plp2 proteolipid protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349250 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1587363 Plp2 proteolipid protein 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 1587363 Plp2 proteolipid protein 2 gene DOID:0080600 COVID-19 ISO RGD:1349250 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1587363 Plp2 proteolipid protein 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1587363 Plp2 proteolipid protein 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349250 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1587363 Plp2 proteolipid protein 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1587363 Plp2 proteolipid protein 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1587363 Plp2 proteolipid protein 2 gene DOID:12849 autistic disorder ISO RGD:1349250 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587363 Plp2 proteolipid protein 2 gene DOID:630 genetic disease ISO RGD:1349250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587365 Efhc1 EF-hand domain containing 1 gene DOID:0070309 absence epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Absence epilepsy | ClinVar Annotator: match by term: Absence seizure PMID:12439895|PMID:15258581|PMID:16839746|PMID:17159113|PMID:17634063|PMID:18414213|PMID:18823326|PMID:22226147|PMID:22690745|PMID:22926142|PMID:23527921|PMID:24965021|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:31875159 1587365 Efhc1 EF-hand domain containing 1 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:1317534 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: EIG7 PMID:25741868|PMID:28166811|PMID:28492532 1587365 Efhc1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 PMID:25741868|PMID:28492532 1587365 Efhc1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 susceptibility ISO RGD:1317534 D RGD:7240710 20190904 OMIM 1587365 Efhc1 EF-hand domain containing 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1317534 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1587365 Efhc1 EF-hand domain containing 1 gene DOID:1826 epilepsy ISO RGD:1317534 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532 1587365 Efhc1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1317534 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism 1587365 Efhc1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 PMID:12439895|PMID:15258581|PMID:16199547|PMID:16839746|PMID:17054699|PMID:17159113|PMID:17576681|PMID:17634063|PMID:18414213|PMID:18505993|PMID:18823326|PMID:20981092|PMID:22226147|PMID:22690745|PMID:22727576|PMID:22926142|PMID:23527921|PMID:24033266|PMID:24965021|PMID:25108116|PMID:25326635|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:29750216|PMID:31875159|PMID:8737649|PMID:9536098 1587365 Efhc1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy susceptibility ISO RGD:1317534 D RGD:7240710 20190502 OMIM 1587365 Efhc1 EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 1587368 Unc5cl unc-5 family C-terminal like gene DOID:630 genetic disease ISO RGD:1342658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587368 Unc5cl unc-5 family C-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1587370 Tbc1d31 TBC1 domain family, member 31 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603593 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1587370 Tbc1d31 TBC1 domain family, member 31 gene DOID:630 genetic disease ISO RGD:1603593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1313967 D RGD:13592920 20190516 MouseDO 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1313966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12032595 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313966 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:1612 breast cancer ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20080592|PMID:23439489 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:13208227|PMID:26839764 20170808 RGD DNA:deletion:cds:p.V545_E574del (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:13208228|PMID:18330718 20170808 RGD DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:13208229|PMID:24297320 20170808 RGD DNA:nonsense mutation:cds:p.Y634X (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:13208233|PMID:12490068 20170808 RGD DNA:frameshift mutation:cds:p.K218fsX247 (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:13208234|PMID:25421355 20170808 RGD DNA:frameshift mutation:cds:p.S442IfsX1 (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:13208236|PMID:17767039 20170808 RGD DNA:missense mutation:cds:p.Y271H (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:1598916|PMID:8981950 20061222 RGD DNA:frameshift mutations, missense mutation:cds:multiple (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis PMID:10480354|PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11342960|PMID:11391482|PMID:11432960|PMID:11668521|PMID:12032595|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:1816274|PMID:18165274|PMID:18330718|PMID:18373409|PMID:18976157|PMID:19344451|PMID:19810120|PMID:19819120|PMID:19839753|PMID:20025490|PMID:20418910|PMID:21039224|PMID:21499719|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:22913777|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24120389|PMID:24496678|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25520924|PMID:25525159|PMID:25541963|PMID:25640679|PMID:25727835|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26622573|PMID:26690531|PMID:26839764|PMID:26961984|PMID:28492532|PMID:28600779|PMID:28604967|PMID:28690282|PMID:29126381|PMID:29529714|PMID:29620724|PMID:29989442|PMID:30334991|PMID:30806661|PMID:31096510|PMID:33726816|PMID:7550340|PMID:8981950|PMID:9150727|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9536098|PMID:9620772 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313967 D RGD:13208236|PMID:17767039 20170808 RGD 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:13208235|PMID:17226760 20170808 RGD mRNA:decreased expression:epiphyseal plate (human) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:7240710 20130221 OMIM 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrosarcoma PMID:10679937|PMID:11170095|PMID:11391482|PMID:15586175|PMID:17301954|PMID:18165274|PMID:19810120|PMID:25468659|PMID:25541963|PMID:25741868|PMID:28492532|PMID:8981950|PMID:9521425 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:4624 Ollier disease ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1313966 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:17301954|PMID:24728327|PMID:28492532 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10639137|PMID:10679296|PMID:11391482|PMID:11432960|PMID:16283885|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:25230886|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:9002644 Premature Aging IEP D RGD:13208511|PMID:22339633 20170809 RGD mRNA:decreased expression:brain (rat) 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:7240710 20130221 OMIM 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:9005285 Osteochondromatosis ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11391482|PMID:11432960|PMID:15253765|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 1587375 Ext1 exostosin glycosyltransferase 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 1587376 Miip migration and invasion inhibitory protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1587376 Miip migration and invasion inhibitory protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1587376 Miip migration and invasion inhibitory protein gene DOID:630 genetic disease ISO RGD:1602214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587381 Mrpl19 mitochondrial ribosomal protein L19 gene DOID:630 genetic disease ISO RGD:1349255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587381 Mrpl19 mitochondrial ribosomal protein L19 gene DOID:9008939 Breast Neoplasms ISO RGD:1349255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1587384 Parp8 poly (ADP-ribose) polymerase family, member 8 gene DOID:630 genetic disease ISO RGD:1350347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587384 Parp8 poly (ADP-ribose) polymerase family, member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350347 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587387 Usp4 ubiquitin specific peptidase 4 gene DOID:0060852 Pierson syndrome ISO RGD:1344173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1587387 Usp4 ubiquitin specific peptidase 4 gene DOID:630 genetic disease ISO RGD:1344173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587387 Usp4 ubiquitin specific peptidase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344173 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:10763 hypertension IEP D RGD:7775067|PMID:14512447 20131231 RGD mRNA, protein:splice variant, alternative form:basilar artery 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28166811|PMID:28492532|PMID:29510914|PMID:29907982 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:17576681|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:1875 impotence IEP D RGD:7775062|PMID:17355372 20131231 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:penis erectile tissue 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:1924 hypogonadism IEP D RGD:7775065|PMID:20463352 20131231 RGD mRNA, protein:decreased expression:Leydig cell 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:4481 allergic rhinitis IEP D RGD:7775060|PMID:24012634 20131231 RGD protein:increased expression:nasal cavity epithelium 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:5419 schizophrenia ISO RGD:1322442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:630 genetic disease ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:6432 pulmonary hypertension ISO RGD:1322442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21351102 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:65 connective tissue disease ISO RGD:1322442 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:670 amphetamine abuse ISO RGD:1322442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:8541 Sezary's disease ISO RGD:1322442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9000641 Pain IEP D RGD:7775057|PMID:12384231 20131231 RGD protein:increased expression:spinal cord 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1617610 D RGD:7775058|PMID:14973199 20131231 RGD 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:7240710 20140911 OMIM 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:16199547|PMID:16646045|PMID:17576681|PMID:23910461|PMID:25640679|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9004538 Hearing Loss ISO RGD:1617610 D RGD:7775056|PMID:22270721 20131231 RGD 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7775064|PMID:20186099 20131231 RGD 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:7777110|PMID:15939056 20140102 RGD protein:decreased expression:aorta 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9005968 Neuralgia ISO RGD:1322442 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30152261 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:7777120|PMID:18332860 20140102 RGD 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:7777130|PMID:19845676 20140103 RGD 1587390 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9970 obesity IEP D RGD:7777114|PMID:23454089 20140102 RGD protein:increased expression:kidney, glomerulus 1587399 Elof1 elongation factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1587399 Elof1 elongation factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1587399 Elof1 elongation factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1587399 Elof1 elongation factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1587416 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 1587416 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1605360 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1587416 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:1059 intellectual disability ISO RGD:1605360 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587416 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:630 genetic disease ISO RGD:1605360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587417 Ulk3 unc-51 like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1587417 Ulk3 unc-51 like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1349871 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1587417 Ulk3 unc-51 like kinase 3 gene DOID:5419 schizophrenia ISO RGD:1349871 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1587417 Ulk3 unc-51 like kinase 3 gene DOID:630 genetic disease ISO RGD:1349871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587417 Ulk3 unc-51 like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1349871 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1587426 Cfap107 cilia and flagella associated protein 107 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1587427 Sh2d6 SH2 domain containing 6 gene DOID:630 genetic disease ISO RGD:1606407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587433 Ccdc6 coiled-coil domain containing 6 gene DOID:10652 Alzheimer's disease ISO RGD:1344180 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 1587433 Ccdc6 coiled-coil domain containing 6 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1344180 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 1587433 Ccdc6 coiled-coil domain containing 6 gene DOID:630 genetic disease ISO RGD:1344180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587437 Pramef20 PRAME family member 20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1626252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1587437 Pramef20 PRAME family member 20 gene DOID:630 genetic disease ISO RGD:1626252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587438 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1314786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1587438 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:1314786 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1587438 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314786 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 1587438 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587441 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1601711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587441 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:12271 aniridia ISO RGD:1601711 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1587441 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1601711 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 1587441 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1601711 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1587441 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:630 genetic disease ISO RGD:1601711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587441 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:9002455 Aniridia 1 ISO RGD:1601711 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 1587443 Saal1 serum amyloid A-like 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1606985 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1587443 Saal1 serum amyloid A-like 1 gene DOID:1059 intellectual disability ISO RGD:1606985 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587443 Saal1 serum amyloid A-like 1 gene DOID:630 genetic disease ISO RGD:1606985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587445 LOC691141 hypothetical protein LOC691141 gene DOID:0050990 episodic ataxia type 2 ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1587445 LOC691141 hypothetical protein LOC691141 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1587445 LOC691141 hypothetical protein LOC691141 gene DOID:0111254 glutaric acidemia I ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1587445 LOC691141 hypothetical protein LOC691141 gene DOID:13810 familial hypercholesterolemia ISO RGD:2302125 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 1587445 LOC691141 hypothetical protein LOC691141 gene DOID:3413 alpha-mannosidosis ISO RGD:2302125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1587447 Pramef17 PRAME family member 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602373 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1587447 Pramef17 PRAME family member 17 gene DOID:630 genetic disease ISO RGD:1602373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587448 Spx spexin hormone gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1606773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 1587448 Spx spexin hormone gene DOID:630 genetic disease ISO RGD:1606773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587462 Tafa3 TAFA chemokine like family member 3 gene DOID:0060041 autism spectrum disorder ISS RGD:1617223 D RGD:13592920 20180719 MouseDO 1587462 Tafa3 TAFA chemokine like family member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1354085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1587462 Tafa3 TAFA chemokine like family member 3 gene DOID:13938 amenorrhea ISO RGD:1354085 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1587464 Spaca4 sperm acrosome associated 4 gene DOID:630 genetic disease ISO RGD:1343720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587471 LOC691113 hypothetical protein LOC691113 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1606379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 1587471 LOC691113 hypothetical protein LOC691113 gene DOID:630 genetic disease ISO RGD:1606379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587477 Fancg FA complementation group G gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1350702 D RGD:11049143|PMID:17409780 20160707 RGD 1587477 Fancg FA complementation group G gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0080942 anauxetic dysplasia ISO RGD:1350702 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1350702 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:7240710 20140911 OMIM 1587477 Fancg FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33718801|PMID:9536098|PMID:9806548 1587477 Fancg FA complementation group G gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 1587477 Fancg FA complementation group G gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1587477 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10807541|PMID:11093276 1587477 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:1599879|PMID:9806548 20070220 RGD FANCG, OMIM:602956 1587477 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16643430|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 1587477 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 1587477 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24136620|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33563768|PMID:33718801|PMID:34422195|PMID:9536098|PMID:9806548 1587477 Fancg FA complementation group G gene DOID:1793 pancreatic cancer ISO RGD:1350702 D RGD:2317238|PMID:16243825 20100322 RGD 1587477 Fancg FA complementation group G gene DOID:2394 ovarian cancer ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 1587477 Fancg FA complementation group G gene DOID:403 mouth disease ISO RGD:1350702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 1587477 Fancg FA complementation group G gene DOID:4905 pancreatic carcinoma ISO RGD:1350702 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 1587477 Fancg FA complementation group G gene DOID:630 genetic disease ISO RGD:1350702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1587477 Fancg FA complementation group G gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1350702 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1587477 Fancg FA complementation group G gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28717661 1587477 Fancg FA complementation group G gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1587477 Fancg FA complementation group G gene DOID:9870 galactosemia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1587483 Crygs crystallin, gamma S gene DOID:0060575 3MC syndrome 1 ISO RGD:1320030 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 1587483 Crygs crystallin, gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:7240710 20170920 OMIM 1587483 Crygs crystallin, gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 20 multiple types PMID:16141006|PMID:18587492|PMID:19262743|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29964096 1587483 Crygs crystallin, gamma S gene DOID:630 genetic disease ISO RGD:1320030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 1587483 Crygs crystallin, gamma S gene DOID:83 cataract ISO RGD:1320030 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16141006 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:10534 stomach cancer ISO RGD:1350049 D RGD:11038731|PMID:20938052 20160223 RGD mRNA:increased expression:stomach (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1350049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:219 colon cancer ISO RGD:1350049 D RGD:11038730|PMID:17310252 20160223 RGD protein:increased expression:colon (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350049 D RGD:150429662|PMID:23071587 20210914 RGD protein:increased expression:lung epithelium 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350049 D RGD:11038729|PMID:20682707 20160223 RGD protein:increased expression:lung (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1350049 D RGD:150429662|PMID:23071587 20210914 RGD 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350049 D RGD:150429662|PMID:23071587 20210914 RGD 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350049 D RGD:11039407|PMID:21082031 20160303 RGD mRNA:altered expression:kidney (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:5419 schizophrenia ISO RGD:1350049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:630 genetic disease ISO RGD:1350049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:633 myositis ISO RGD:1350049 D RGD:11038773|PMID:16574722 20160224 RGD protein:decreased expression:muscle (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:9685423|PMID:23633480 20160224 RGD mRNA:increased expression:liver (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1350049 D RGD:11038774|PMID:23228155 20160316 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:8692 myeloid leukemia ISO RGD:1350049 D RGD:11038774|PMID:23228155 20160224 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1350049 D RGD:11039410|PMID:19718710 20160302 RGD associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:1350049 D RGD:11038736|PMID:23462647 20160223 RGD mRNA:increased expression:pituitary gland (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350049 D RGD:11039469|PMID:23748175 20160304 RGD mRNA:increased expression:epithelium of female gonad (human) 1587490 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1621394 D RGD:11038777|PMID:15390079 20160225 RGD protein:increased expression:lung (mouse) 1587495 Klrg2 killer cell lectin like receptor G2 gene DOID:0080690 RASopathy ISO RGD:1604700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1587495 Klrg2 killer cell lectin like receptor G2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604700 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587495 Klrg2 killer cell lectin like receptor G2 gene DOID:630 genetic disease ISO RGD:1604700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587504 Skint10 selection and upkeep of intraepithelial T cells 10 gene DOID:630 genetic disease ISO RGD:1351143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587516 Msgn1 mesogenin 1 gene DOID:4450 renal cell carcinoma ISO RGD:1602271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 1587516 Msgn1 mesogenin 1 gene DOID:630 genetic disease ISO RGD:1602271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587524 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1353313 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1587524 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1353313 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587524 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:11372 megacolon ISO RGD:1353313 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1587524 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:630 genetic disease ISO RGD:1353313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587528 Psmf1 proteasome inhibitor subunit 1 gene DOID:630 genetic disease ISO RGD:1345633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587536 Maml2 mastermind-like transcriptional coactivator 2 gene DOID:1059 intellectual disability ISO RGD:1313593 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1587536 Maml2 mastermind-like transcriptional coactivator 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1313593 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1587536 Maml2 mastermind-like transcriptional coactivator 2 gene DOID:630 genetic disease ISO RGD:1313593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587536 Maml2 mastermind-like transcriptional coactivator 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1313593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1587550 Anxa9 annexin A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1587550 Anxa9 annexin A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1587550 Anxa9 annexin A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1587550 Anxa9 annexin A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352405 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1587550 Anxa9 annexin A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1587550 Anxa9 annexin A9 gene DOID:630 genetic disease ISO RGD:1352405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587550 Anxa9 annexin A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352405 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1587554 Ncmap noncompact myelin associated protein gene DOID:630 genetic disease ISO RGD:1606072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587557 Rad21l1 RAD21 cohesin complex component like 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348792 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1587557 Rad21l1 RAD21 cohesin complex component like 1 gene DOID:630 genetic disease ISO RGD:1348792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587560 Kmt5a lysine methyltransferase 5A gene DOID:10283 prostate cancer ISO RGD:1602807 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1587560 Kmt5a lysine methyltransferase 5A gene DOID:630 genetic disease ISO RGD:1602807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587563 Klrb1 killer cell lectin like receptor B1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343603 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1587563 Klrb1 killer cell lectin like receptor B1 gene DOID:630 genetic disease ISO RGD:1343603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587563 Klrb1 killer cell lectin like receptor B1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343603 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:decreased expression:liver (human) 1587590 Rundc3b RUN domain containing 3B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601714 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587590 Rundc3b RUN domain containing 3B gene DOID:630 genetic disease ISO RGD:1601714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587598 Elmod2 ELMO domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1352550 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1587598 Elmod2 ELMO domain containing 2 gene DOID:630 genetic disease ISO RGD:1352550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587624 Atg10 autophagy related 10 gene DOID:630 genetic disease ISO RGD:1351458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587624 Atg10 autophagy related 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351458 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587624 Atg10 autophagy related 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1351458 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 1587626 LOC688553 hypothetical protein LOC688553 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1642900 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587626 LOC688553 hypothetical protein LOC688553 gene DOID:630 genetic disease ISO RGD:1642900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587639 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:34185323 1587639 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:34185323 1587639 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1316095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587639 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:9006521 Developmental and Epileptic Encephalopathy 108 ISO RGD:1316095 D RGD:7240710 20221123 OMIM 1587639 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:9006521 Developmental and Epileptic Encephalopathy 108 ISO RGD:1316095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 108 PMID:25741868|PMID:34185323|PMID:35095415 1587639 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1316095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1587643 Glyatl3 glycine-N-acyltransferase-like 3 gene DOID:630 genetic disease ISO RGD:1348263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587661 Pabpc5 poly A binding protein, cytoplasmic 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348533 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1587661 Pabpc5 poly A binding protein, cytoplasmic 5 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1348533 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 1587661 Pabpc5 poly A binding protein, cytoplasmic 5 gene DOID:12849 autistic disorder ISO RGD:1348533 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587661 Pabpc5 poly A binding protein, cytoplasmic 5 gene DOID:630 genetic disease ISO RGD:1348533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:11526224|PMID:27167370 20170810 RGD DNA:mutations:multiple: 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:7240710 20130221 OMIM 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16451139|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17576681|PMID:17823972|PMID:17948227|PMID:17957493|PMID:17966092|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20301409|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:21671183|PMID:22614770|PMID:22695176|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24330302|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25736335|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26174677|PMID:26270765|PMID:26318470|PMID:26420839|PMID:26454439|PMID:26483233|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27060300|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:27884173|PMID:28101778|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:29158924|PMID:29896740|PMID:30022420|PMID:30041674|PMID:30209273|PMID:30577886|PMID:30712249|PMID:30728829|PMID:31466887|PMID:31525265|PMID:31622506|PMID:31757659|PMID:31813137|PMID:32451238|PMID:32754920|PMID:7602808|PMID:7909321|PMID:7912889|PMID:7951229|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9536098|PMID:9554742|PMID:9929975 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1558195 D RGD:13208534|PMID:17937813 20170810 RGD 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency treatment ISO RGD:1558195 D RGD:13208535|PMID:19861951 20170810 RGD 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1344450 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY PMID:15643616|PMID:16281286|PMID:16490061|PMID:17075691|PMID:17113806|PMID:17445044|PMID:17957493|PMID:20549364|PMID:22727635|PMID:24059531|PMID:25741868|PMID:26454439|PMID:27233228|PMID:27489777|PMID:28492532 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1344450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) PMID:25741868|PMID:28492532 1587662 Mmut methylmalonyl-CoA mutase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1344450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:16281286|PMID:16490061|PMID:17075691|PMID:17445044|PMID:22727635|PMID:25741868|PMID:26454439|PMID:27233228|PMID:27489777|PMID:28492532 1587662 Mmut methylmalonyl-CoA mutase gene DOID:14749 methylmalonic acidemia ISO RGD:1344450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 1587662 Mmut methylmalonyl-CoA mutase gene DOID:14749 methylmalonic acidemia ISO RGD:1344450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17445044|PMID:17470278|PMID:17957493|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:22614770|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26270765|PMID:26420839|PMID:26454439|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:30041674|PMID:30080956|PMID:30209273|PMID:31525265|PMID:31622506|PMID:31757659|PMID:32451238|PMID:33413471|PMID:7909321|PMID:7912889|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9929975 1587662 Mmut methylmalonyl-CoA mutase gene DOID:630 genetic disease ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1587662 Mmut methylmalonyl-CoA mutase gene DOID:655 inherited metabolic disorder ISO RGD:1344450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19427250 1587662 Mmut methylmalonyl-CoA mutase gene DOID:936 brain disease ISO RGD:1344450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 1587662 Mmut methylmalonyl-CoA mutase gene DOID:9970 obesity ISO RGD:1344450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 1587669 Ripor3 RIPOR family member 3 gene DOID:10283 prostate cancer ISO RGD:1313101 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1587669 Ripor3 RIPOR family member 3 gene DOID:630 genetic disease ISO RGD:1313101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587677 Prmt8 protein arginine methyltransferase 8 gene DOID:630 genetic disease ISO RGD:1605979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587677 Prmt8 protein arginine methyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605979 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:7240710 20190315 OMIM 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 PMID:25741868|PMID:27573165|PMID:28492532|PMID:30190335|PMID:31058414|PMID:32369862 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:2340 craniosynostosis ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:630 genetic disease ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30765764|PMID:31058414|PMID:9536098 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1606193 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868|PMID:30190335 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9269 maple syrup urine disease ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1587684 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1587713 Fpgs folylpolyglutamate synthase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1587713 Fpgs folylpolyglutamate synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 1587713 Fpgs folylpolyglutamate synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1587713 Fpgs folylpolyglutamate synthase gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346571 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1587713 Fpgs folylpolyglutamate synthase gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1587713 Fpgs folylpolyglutamate synthase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1587713 Fpgs folylpolyglutamate synthase gene DOID:630 genetic disease ISO RGD:1346571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587713 Fpgs folylpolyglutamate synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1346571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 1587713 Fpgs folylpolyglutamate synthase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 1587713 Fpgs folylpolyglutamate synthase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346571 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:25013492 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:0060041 autism spectrum disorder ISO RGD:1349183 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:10923 sickle cell anemia ISO RGD:1349183 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:12849 autistic disorder ISO RGD:1349183 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349183 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349183 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:5419 schizophrenia ISO RGD:1349183 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1349183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:8445 intestinal volvulus ISO RGD:1349183 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349183 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1587769 Vps37d VPS37D subunit of ESCRT-I gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349183 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1587777 Uroc1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 1587777 Uroc1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:7240710 20130221 OMIM 1587777 Uroc1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urocanate hydratase deficiency PMID:18414213|PMID:19304569|PMID:25741868|PMID:28492532 1587777 Uroc1 urocanate hydratase 1 gene DOID:1059 intellectual disability ISO RGD:1347314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 1587777 Uroc1 urocanate hydratase 1 gene DOID:630 genetic disease ISO RGD:1347314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587777 Uroc1 urocanate hydratase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347314 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1587777 Uroc1 urocanate hydratase 1 gene DOID:9004866 Ataxia ISO RGD:1347314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 1587777 Uroc1 urocanate hydratase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347314 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1587777 Uroc1 urocanate hydratase 1 gene DOID:9270 alkaptonuria ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1587794 Lce1d late cornified envelope 1D gene DOID:0111940 immunodeficiency 42 ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1587794 Lce1d late cornified envelope 1D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1587794 Lce1d late cornified envelope 1D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1587794 Lce1d late cornified envelope 1D gene DOID:1540 parathyroid carcinoma ISO RGD:1354412 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1587794 Lce1d late cornified envelope 1D gene DOID:5812 MHC class II deficiency ISO RGD:1354412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1587794 Lce1d late cornified envelope 1D gene DOID:630 genetic disease ISO RGD:1354412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587794 Lce1d late cornified envelope 1D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354412 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1587811 LOC685964 hypothetical protein LOC685964 gene DOID:630 genetic disease ISO RGD:1603560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587811 LOC685964 hypothetical protein LOC685964 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603560 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1587811 LOC685964 hypothetical protein LOC685964 gene DOID:9270 alkaptonuria ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1344177 D RGD:11087556|PMID:20505746 20160602 RGD mRNA:increased expression:skin (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis ISO RGD:1344177 D RGD:11081157|PMID:24704289 20160526 RGD protein:increased expression:esophagus (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis treatment ISO RGD:1344177 D RGD:11081156|PMID:18844613 20160526 RGD 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:4891483|PMID:18712274 20110414 RGD DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:4891495|PMID:15207712 20110118 RGD DNA:SNPs: :77C>T, 2497T>G (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:5130930|PMID:16304252 20110414 RGD protein:increased expression:plasma 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment IDA D RGD:11087575|PMID:25399816 20160606 RGD 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1619597 D RGD:11081163|PMID:25530546 20160527 RGD 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:3049 Churg-Strauss syndrome ISO RGD:1344177 D RGD:11081158|PMID:21266446 20160526 RGD protein:increased expression:serum (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:3310 atopic dermatitis ISO RGD:1344177 D RGD:11087554|PMID:14616792 20160602 RGD protein:increased expression:serum (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1344177 D RGD:11081161|PMID:16620281 20160527 RGD protein:decreased expression:plasma (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:1344177 D RGD:11081160|PMID:25234644 20160527 RGD mRNA:increased expression:gastric antrum (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:4481 allergic rhinitis ISO RGD:1344177 D RGD:7364793|PMID:23883806 20160526 RGD protein:increased expression:oronasal secretion (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:11531119|PMID:24989688 20160826 RGD associated with Eosinophilia;protein:increased expression:oronasal secretion (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:4891493|PMID:15580493 20110118 RGD DNA:polymorphism: :2497T>G (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344177 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:630 genetic disease ISO RGD:1344177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:8506 bullous pemphigoid ISO RGD:1344177 D RGD:11087555|PMID:21881593 20160602 RGD protein:increased expression:blister, serum (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1344177 D RGD:11081162|PMID:17900656 20160527 RGD protein:increased expression:esophagus (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9000406 Eosinophilic Asthma severity ISO RGD:1344177 D RGD:11531115|PMID:25936567 20160826 RGD protein:increased expression:sputum (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:4891487|PMID:19296494 20110117 RGD associated with Sinusitis 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:5130928|PMID:15947325 20110414 RGD associated with Pleural Effusion 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9001472 Nasal Polyps ISO RGD:1344177 D RGD:5130929|PMID:21303604 20110414 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9003778 Eosinophilic Pustular Folliculitis ISO RGD:1344177 D RGD:11081159|PMID:22206772 20160526 RGD protein:increased expression:skin, sebocyte (human) 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1344177 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1587817 Ccl26 C-C motif chemokine ligand 26 gene DOID:9415 allergic asthma treatment ISO RGD:1619597 D RGD:11081163|PMID:25530546 20160826 RGD 1587834 Samd3 sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1322660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587838 Pfn3 profilin 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 1587838 Pfn3 profilin 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1587838 Pfn3 profilin 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 1587838 Pfn3 profilin 3 gene DOID:630 genetic disease ISO RGD:1604471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587838 Pfn3 profilin 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604471 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1587846 Zc3h10 zinc finger CCCH type containing 10 gene DOID:4195 hyperglycemia ISO RGD:1602996 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:31775033 1587846 Zc3h10 zinc finger CCCH type containing 10 gene DOID:630 genetic disease ISO RGD:1602996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587846 Zc3h10 zinc finger CCCH type containing 10 gene DOID:9007692 Insulin Resistance ISO RGD:1602996 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:31775033 1587846 Zc3h10 zinc finger CCCH type containing 10 gene DOID:9970 obesity ISO RGD:1602996 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:31775033 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155904073 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155914366 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155917945 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155922390 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155923179 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155978556 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155997549 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:155997557 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156018299 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156067178 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156132186 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156172192 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156237692 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156270795 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156292113 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156292186 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156307065 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:156308589 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:329359594 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:329390241 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587849 ZNF737 zinc finger protein 737 gene DOID:630 genetic disease ISO RGD:329395947 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587862 Sprr1b small proline-rich protein 1B gene DOID:0111940 immunodeficiency 42 ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1587862 Sprr1b small proline-rich protein 1B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1587862 Sprr1b small proline-rich protein 1B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1587862 Sprr1b small proline-rich protein 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1323772 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1587862 Sprr1b small proline-rich protein 1B gene DOID:5812 MHC class II deficiency ISO RGD:1323772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1587862 Sprr1b small proline-rich protein 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323772 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1587865 H2az2 H2A.Z variant histone 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322551 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587868 Srrm3 serine/arginine repetitive matrix 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601811 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1587868 Srrm3 serine/arginine repetitive matrix 3 gene DOID:630 genetic disease ISO RGD:1601811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587868 Srrm3 serine/arginine repetitive matrix 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1601811 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 1587874 Enthd1 ENTH domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1587874 Enthd1 ENTH domain containing 1 gene DOID:630 genetic disease ISO RGD:1602180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587893 H1f2 H1.2 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343160 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587893 H1f2 H1.2 linker histone, cluster member gene DOID:9008939 Breast Neoplasms ISO RGD:1343160 D RGD:11554173 20220412 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 1587893 H1f2 H1.2 linker histone, cluster member gene DOID:9119 acute myeloid leukemia ISO RGD:1343160 D RGD:11554173 20220412 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1587893 H1f2 H1.2 linker histone, cluster member gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1345296 D RGD:10755490|PMID:19806355 20160129 RGD DNA:SNP, haplotype:enhancer: (rs807212) (human) 1587949 Gpr52 G protein-coupled receptor 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1353875 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1587949 Gpr52 G protein-coupled receptor 52 gene DOID:3755 antithrombin III deficiency ISO RGD:1353875 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 1587949 Gpr52 G protein-coupled receptor 52 gene DOID:630 genetic disease ISO RGD:1353875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1587949 Gpr52 G protein-coupled receptor 52 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 1587949 Gpr52 G protein-coupled receptor 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353875 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1587989 Sin3b SIN3 transcription regulator family member B gene DOID:630 genetic disease ISO RGD:1348412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588056 LOC683313 similar to keratin complex 2, basic, gene 6a gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1351268 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Focal palmoplantar keratoderma PMID:19609311 1588056 LOC683313 similar to keratin complex 2, basic, gene 6a gene DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma ISO RGD:1351268 D RGD:7240710 20220112 OMIM 1588056 LOC683313 similar to keratin complex 2, basic, gene 6a gene DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma ISO RGD:1351268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse PMID:19609311|PMID:23662636|PMID:25741868|PMID:28492532 1588056 LOC683313 similar to keratin complex 2, basic, gene 6a gene DOID:630 genetic disease ISO RGD:1351268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588072 Taf4 TATA-box binding protein associated factor 4 gene DOID:630 genetic disease ISO RGD:1345040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588091 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1344566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 1588091 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:7240710 20130731 OMIM 1588091 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:10631160|PMID:10749657|PMID:11528505|PMID:16906559|PMID:18449898|PMID:24095820|PMID:25741868|PMID:28492532|PMID:29401559|PMID:32571425|PMID:33836786|PMID:7550324|PMID:9843207 1588091 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1344566 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588091 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:630 genetic disease ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29401559 1588109 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 1588109 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1345070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 1588109 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:12849 autistic disorder ISO RGD:1345070 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588109 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:630 genetic disease ISO RGD:1345070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588134 Ppp2r3b protein phosphatase 2, regulatory subunit B'', beta gene DOID:12849 autistic disorder ISO RGD:1604626 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588156 MGC93861 hypothetical protein LOC682010 gene DOID:630 genetic disease ISO RGD:1351899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588160 Tmem247 transmembrane protein 247 gene DOID:3883 Lynch syndrome ISO RGD:6482527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 1588160 Tmem247 transmembrane protein 247 gene DOID:630 genetic disease ISO RGD:6482527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588167 Ccdc166 coiled-coil domain containing 166 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1588167 Ccdc166 coiled-coil domain containing 166 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1588167 Ccdc166 coiled-coil domain containing 166 gene DOID:4621 holoprosencephaly ISO RGD:5134207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1588167 Ccdc166 coiled-coil domain containing 166 gene DOID:630 genetic disease ISO RGD:5134207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588184 Spcs3 signal peptidase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1353202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588184 Spcs3 signal peptidase complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353202 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588188 Rtl4 retrotransposon Gag like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603494 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1588188 Rtl4 retrotransposon Gag like 4 gene DOID:12849 autistic disorder ISO RGD:1603494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588188 Rtl4 retrotransposon Gag like 4 gene DOID:5419 schizophrenia ISO RGD:1603494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1588188 Rtl4 retrotransposon Gag like 4 gene DOID:630 genetic disease ISO RGD:1603494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588196 Skida1 SKI/DACH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588212 Obp2a odorant binding protein 2A gene DOID:0050777 Joubert syndrome ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1588212 Obp2a odorant binding protein 2A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1588212 Obp2a odorant binding protein 2A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1588212 Obp2a odorant binding protein 2A gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1344089 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1588212 Obp2a odorant binding protein 2A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1344089 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1588212 Obp2a odorant binding protein 2A gene DOID:0081097 Rafiq syndrome ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1588212 Obp2a odorant binding protein 2A gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1588212 Obp2a odorant binding protein 2A gene DOID:3652 Leigh disease ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1588212 Obp2a odorant binding protein 2A gene DOID:630 genetic disease ISO RGD:1344089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588212 Obp2a odorant binding protein 2A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1344089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 1588214 Ccdc74a coiled-coil domain containing 74A gene DOID:630 genetic disease ISO RGD:1604765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588215 Ebf4 EBF family member 4 gene DOID:0080600 COVID-19 ISO RGD:1625812 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1588215 Ebf4 EBF family member 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1625812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1588215 Ebf4 EBF family member 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1625812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1588215 Ebf4 EBF family member 4 gene DOID:630 genetic disease ISO RGD:1625812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319575 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319575 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319575 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319575 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:630 genetic disease ISO RGD:1319575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319575 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319575 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1588219 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588229 Snrpf small nuclear ribonucleoprotein polypeptide F gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313451 D RGD:10768838|PMID:23799036 20160209 RGD mRNA, protein:increased expression, increased protein binding:multiple (human) 1588229 Snrpf small nuclear ribonucleoprotein polypeptide F gene DOID:9261 nasopharynx carcinoma ISO RGD:1313451 D RGD:10755709|PMID:24080422 20160203 RGD mRNA:increased expression:nasopharynx (human) 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5508531 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5508531 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5508531 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5508531 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0111934 immunodeficiency 38 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:0111935 immunodeficiency 16 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5508531 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:630 genetic disease ISO RGD:5508531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5508531 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5508531 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1588232 Ankrd65 ankyrin repeat domain 65 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588240 Rbms3 RNA binding motif, single stranded interacting protein 3 gene DOID:13641 exfoliation syndrome ISO RGD:1343809 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 1588240 Rbms3 RNA binding motif, single stranded interacting protein 3 gene DOID:630 genetic disease ISO RGD:1343809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588243 Tmem88b transmembrane protein 88B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588243 Tmem88b transmembrane protein 88B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2802463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1588243 Tmem88b transmembrane protein 88B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2802463 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1588243 Tmem88b transmembrane protein 88B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2802463 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1588243 Tmem88b transmembrane protein 88B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2802463 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1588243 Tmem88b transmembrane protein 88B gene DOID:0110994 Joubert syndrome 25 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588243 Tmem88b transmembrane protein 88B gene DOID:0111934 immunodeficiency 38 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588243 Tmem88b transmembrane protein 88B gene DOID:0111935 immunodeficiency 16 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588243 Tmem88b transmembrane protein 88B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2802463 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1588243 Tmem88b transmembrane protein 88B gene DOID:630 genetic disease ISO RGD:2802463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588243 Tmem88b transmembrane protein 88B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2802463 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588243 Tmem88b transmembrane protein 88B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2802463 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1588243 Tmem88b transmembrane protein 88B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588249 Zfp703 zinc finger protein 703 gene DOID:630 genetic disease ISO RGD:1602208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588254 Scx scleraxis bHLH transcription factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1588254 Scx scleraxis bHLH transcription factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1588254 Scx scleraxis bHLH transcription factor gene DOID:4621 holoprosencephaly ISO RGD:1625822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1588254 Scx scleraxis bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1625822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588263 Krtap16-5 keratin associated protein 16-5 gene DOID:630 genetic disease ISO RGD:1346372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588264 Ripply1 ripply transcriptional repressor 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1641968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1588264 Ripply1 ripply transcriptional repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1641968 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1588264 Ripply1 ripply transcriptional repressor 1 gene DOID:12849 autistic disorder ISO RGD:1641968 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588264 Ripply1 ripply transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1641968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588304 Tspan15 tetraspanin 15 gene DOID:630 genetic disease ISO RGD:1351907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588366 Dstn destrin, actin depolymerizing factor gene DOID:6000 congestive heart failure ISO RGD:1312065 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1588366 Dstn destrin, actin depolymerizing factor gene DOID:630 genetic disease ISO RGD:1312065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588366 Dstn destrin, actin depolymerizing factor gene DOID:9000955 Acute Otitis Media ISO RGD:8979178 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 1588366 Dstn destrin, actin depolymerizing factor gene DOID:9006205 Animal Disease Models ISO RGD:1312065 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1588366 Dstn destrin, actin depolymerizing factor gene DOID:9007174 Ventricular Remodeling ISO RGD:1312065 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 1588368 Serf2 small EDRK-rich factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1344606 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1588368 Serf2 small EDRK-rich factor 2 gene DOID:630 genetic disease ISO RGD:1344606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588368 Serf2 small EDRK-rich factor 2 gene DOID:9256 colorectal cancer ISO RGD:1344606 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1588437 Strip2 striatin interacting protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344527 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1588437 Strip2 striatin interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588441 Bmt2 base methyltransferase of 25S rRNA 2 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606951 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1588441 Bmt2 base methyltransferase of 25S rRNA 2 homolog gene DOID:630 genetic disease ISO RGD:1606951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588441 Bmt2 base methyltransferase of 25S rRNA 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606951 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:0070338 cerebellar hypoplasia ISO RGD:1347978 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:24702957|PMID:25741868|PMID:31474318 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:0090135 complex cortical dysplasia with other brain malformations 5 ISO RGD:1347978 D RGD:7240710 20150701 OMIM 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:0090135 complex cortical dysplasia with other brain malformations 5 ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 PMID:24702957|PMID:25326637|PMID:25741868|PMID:27770045|PMID:28492532|PMID:28840640|PMID:29198720|PMID:29547997|PMID:31474318|PMID:32203252|PMID:32571897|PMID:33547136|PMID:33776625 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:1826 epilepsy ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326637|PMID:25741868|PMID:28492532 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:630 genetic disease ISO RGD:1347978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24702957|PMID:25741868|PMID:27770045|PMID:28492532|PMID:28840640|PMID:29547997|PMID:32203252|PMID:32571897|PMID:33547136 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:8725 vascular dementia ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1347978 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347978 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:9008582 Developmental Disease ISO RGD:1347978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1588452 Tubb2a tubulin, beta 2A class IIa gene DOID:9119 acute myeloid leukemia ISO RGD:1347978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 1588455 Thbs1 thrombospondin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345942 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1588455 Thbs1 thrombospondin 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1345942 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 1588455 Thbs1 thrombospondin 1 gene DOID:0080600 COVID-19 ISO RGD:1345942 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 1588455 Thbs1 thrombospondin 1 gene DOID:10283 prostate cancer IEP D RGD:2317961|PMID:16076702 20100503 RGD mRNA:decreased expression:prostate gland 1588455 Thbs1 thrombospondin 1 gene DOID:1063 interstitial nephritis ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 1588455 Thbs1 thrombospondin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1345942 D RGD:13602099|PMID:20299037 20180531 RGD protein:decreased expression:bladder 1588455 Thbs1 thrombospondin 1 gene DOID:114 heart disease IEP D RGD:2317959|PMID:16630453 20100503 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium 1588455 Thbs1 thrombospondin 1 gene DOID:11713 diabetic angiopathy ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 1588455 Thbs1 thrombospondin 1 gene DOID:12894 Sjogren's syndrome ISS RGD:1615939 D RGD:13592920 20180518 MouseDO OMIM:270150 1588455 Thbs1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:2325023|PMID:16757110 20100519 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:2325028|PMID:10766168 20100519 RGD DNA:hypermethylation (human) 1588455 Thbs1 thrombospondin 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1345942 D RGD:2325021|PMID:20203415 20100519 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:2717 Bloom syndrome ISO RGD:1345942 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1588455 Thbs1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1345942 D RGD:2325022|PMID:19065635 20100519 RGD DNA:hypermethylation:promoter (human) 1588455 Thbs1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1345942 D RGD:2325025|PMID:12429967 20100519 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:2325024|PMID:16465407 20100519 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:2325026|PMID:12213730 20100519 RGD DNA:hypermethylation (human) 1588455 Thbs1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1345942 D RGD:2325027|PMID:11927969 20100519 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:5082 liver cirrhosis ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18407596 1588455 Thbs1 thrombospondin 1 gene DOID:5419 schizophrenia ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1588455 Thbs1 thrombospondin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345942 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1588455 Thbs1 thrombospondin 1 gene DOID:5844 myocardial infarction IEP D RGD:2317960|PMID:16179730 20100503 RGD mRNA, protein:increased expression:myocardium 1588455 Thbs1 thrombospondin 1 gene DOID:630 genetic disease ISO RGD:1345942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588455 Thbs1 thrombospondin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1588455 Thbs1 thrombospondin 1 gene DOID:8947 diabetic retinopathy IEP D RGD:2317943|PMID:17117553 20100430 RGD associated with Diabetes Mellitus, Experimental 1588455 Thbs1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17117553 1588455 Thbs1 thrombospondin 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1345942 D RGD:2325029|PMID:10427124 20100519 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2317939|PMID:19719963 20100430 RGD protein:increased expression:spinal cord 1588455 Thbs1 thrombospondin 1 gene DOID:9000784 Fibrosis ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 1588455 Thbs1 thrombospondin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1615939 D RGD:2317941|PMID:17878288 20100430 RGD associated with Diabetes Mellitus, Experimental 1588455 Thbs1 thrombospondin 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:2317938|PMID:20136391 20100430 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 1588455 Thbs1 thrombospondin 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1626167|PMID:15459484 20100503 RGD mRNA:increased expression:mammary gland 1588455 Thbs1 thrombospondin 1 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2317942|PMID:17640965 20100430 RGD 1588455 Thbs1 thrombospondin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345942 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 1588455 Thbs1 thrombospondin 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2317960|PMID:16179730 20100503 RGD mRNA:increased expression:heart 1588455 Thbs1 thrombospondin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345942 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9309585 1588455 Thbs1 thrombospondin 1 gene DOID:9256 colorectal cancer ISO RGD:1345942 D RGD:153344612|PMID:31502404 20220831 RGD protein:increased expression:serum 1588455 Thbs1 thrombospondin 1 gene DOID:9256 colorectal cancer ISO RGD:1345942 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1588455 Thbs1 thrombospondin 1 gene DOID:9970 obesity ISO RGD:1345942 D RGD:9681453|PMID:24086512 20141202 RGD mRNA,protein:increased expression:mononuclear cell, adipose tissue: 1588458 Rnf5 ring finger protein 5 gene DOID:0050553 JMP syndrome ISO RGD:1352556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1588458 Rnf5 ring finger protein 5 gene DOID:630 genetic disease ISO RGD:1352556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588473 Fut4-ps1 fucosyltransferase 4, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1350852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588473 Fut4-ps1 fucosyltransferase 4, pseudogene 1 gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:1350852 D RGD:7240710 20170222 OMIM 1588473 Fut4-ps1 fucosyltransferase 4, pseudogene 1 gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:1350852 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency PMID:25741868|PMID:8175676 1588484 Pla2g12b phospholipase A2, group XIIB gene DOID:630 genetic disease ISO RGD:1351879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588513 Plac8l1 PLAC8-like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1588513 Plac8l1 PLAC8-like 1 gene DOID:630 genetic disease ISO RGD:1342779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588513 Plac8l1 PLAC8-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342779 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588513 Plac8l1 PLAC8-like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1588516 Pcdhgb7 protocadherin gamma subfamily B, 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1344386 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1588516 Pcdhgb7 protocadherin gamma subfamily B, 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1588516 Pcdhgb7 protocadherin gamma subfamily B, 7 gene DOID:630 genetic disease ISO RGD:1344386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588516 Pcdhgb7 protocadherin gamma subfamily B, 7 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1344386 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1588516 Pcdhgb7 protocadherin gamma subfamily B, 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344386 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588516 Pcdhgb7 protocadherin gamma subfamily B, 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18430085|PMID:25185984 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:7240710 20130221 OMIM 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II PMID:10480214|PMID:10484795|PMID:11238270|PMID:11735032|PMID:11748843|PMID:11896212|PMID:11968085|PMID:12032589|PMID:12468278|PMID:12529714|PMID:12930833|PMID:14654353|PMID:14662265|PMID:15098233|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16548007|PMID:16601897|PMID:16684786|PMID:16873891|PMID:16880272|PMID:1719174|PMID:17394203|PMID:17576681|PMID:19037987|PMID:19396829|PMID:19438153|PMID:19619503|PMID:19648820|PMID:19700766|PMID:19846429|PMID:1998334|PMID:20530761|PMID:20730588|PMID:20812380|PMID:21300850|PMID:21659346|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23031367|PMID:23206890|PMID:23345479|PMID:23361305|PMID:23409742|PMID:23606313|PMID:23656970|PMID:23660394|PMID:24033266|PMID:24342716|PMID:24365856|PMID:24813252|PMID:24887148|PMID:24962355|PMID:25112388|PMID:25652404|PMID:25741868|PMID:25941633|PMID:26350513|PMID:26471271|PMID:26724946|PMID:26845103|PMID:28123175|PMID:28183324|PMID:28492532|PMID:28855170|PMID:29077208|PMID:29089047|PMID:29247119|PMID:29334594|PMID:30471092|PMID:31333075|PMID:31568572|PMID:31647997|PMID:32619718|PMID:33500567|PMID:34906502|PMID:4685904|PMID:6142097|PMID:7616547|PMID:8042670|PMID:8434619|PMID:8630491|PMID:9332651|PMID:9345098|PMID:9382096|PMID:9382097|PMID:9384614|PMID:9536098 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050700 cardiomyopathy ISO RGD:1351979 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050800 creatine transporter deficiency ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060480 left ventricular noncompaction ISO RGD:1351979 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351979 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351979 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1351979 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351979 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351979 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0112003 immunodeficiency 33 ISO RGD:1351979 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:10588 adrenoleukodystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12849 autistic disorder ISO RGD:1351979 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12929 endocardial fibroelastosis ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12930 dilated cardiomyopathy ISO RGD:1351979 D RGD:1578363|PMID:11896212 20070125 RGD 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12930 dilated cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11896212|PMID:12468278|PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:4685904|PMID:9382096 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:13628 favism ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:2729 dyskeratosis congenita ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:607 paraplegia ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 1588532 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9002720 Splenomegaly ISO RGD:1351979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1588534 Lpin3 lipin 3 gene DOID:2234 focal epilepsy ISO RGD:1342644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1588534 Lpin3 lipin 3 gene DOID:630 genetic disease ISO RGD:1342644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588541 Atp10d ATPase phospholipid transporting 10D (putative) gene DOID:630 genetic disease ISO RGD:1316047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588541 Atp10d ATPase phospholipid transporting 10D (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050476 Barth syndrome ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344323 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1344323 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:13628 favism ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:607 paraplegia ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1557359 D RGD:9586066|PMID:18323671 20140929 RGD mRNA:increased expression:embryo: 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9002720 Splenomegaly ISO RGD:1344323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9005463 Occupational Diseases ISO RGD:1344323 D RGD:9586067|PMID:24973494 20140929 RGD 1588543 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344323 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 1588548 Pax1 paired box 1 gene DOID:2907 Goldenhar syndrome ISO RGD:1350216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia 1588548 Pax1 paired box 1 gene DOID:630 genetic disease ISO RGD:1350216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1588548 Pax1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:7240710 20140911 OMIM 1588548 Pax1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 2 PMID:1889089|PMID:23851939|PMID:25741868|PMID:28492532|PMID:28657137|PMID:29681087|PMID:32111619 1588548 Pax1 paired box 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1350216 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1588558 Vpreb1a V-set pre-B cell surrogate light chain 1A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1347336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1588558 Vpreb1a V-set pre-B cell surrogate light chain 1A gene DOID:11198 DiGeorge syndrome ISO RGD:1347336 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1588558 Vpreb1a V-set pre-B cell surrogate light chain 1A gene DOID:630 genetic disease ISO RGD:1347336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588558 Vpreb1a V-set pre-B cell surrogate light chain 1A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347336 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 1588559 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:0080600 COVID-19 ISO RGD:1343345 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1588559 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:7240710 20200812 OMIM 1588559 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 PMID:23603806 1588559 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:3910 lung adenocarcinoma ISO RGD:1343345 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1588559 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1343345 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588559 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:9006205 Animal Disease Models ISO RGD:1343345 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1588560 Tbc1d16 TBC1 domain family, member 16 gene DOID:630 genetic disease ISO RGD:1345819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588560 Tbc1d16 TBC1 domain family, member 16 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1588561 Cbx2 chromobox 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1342823 D RGD:9586732|PMID:24885002 20141003 RGD 1588561 Cbx2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:7240710 20130425 OMIM 1588561 Cbx2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 5 PMID:19361780|PMID:25741868 1588561 Cbx2 chromobox 2 gene DOID:14447 gonadal dysgenesis no_association ISO RGD:1342823 D RGD:9586730|PMID:23219007 20141003 RGD 1588561 Cbx2 chromobox 2 gene DOID:1923 disorder of sexual development ISO RGD:1342823 D RGD:8554872 20210316 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1588561 Cbx2 chromobox 2 gene DOID:1923 disorder of sexual development ISO RGD:1558585 D RGD:9586734|PMID:9641679 20141003 RGD 1588561 Cbx2 chromobox 2 gene DOID:630 genetic disease ISO RGD:1342823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588561 Cbx2 chromobox 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342823 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 1588561 Cbx2 chromobox 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1588562 Rap2c RAP2C, member of RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353605 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1588562 Rap2c RAP2C, member of RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353605 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588563 Slitrk4 SLIT and NTRK-like family, member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1588563 Slitrk4 SLIT and NTRK-like family, member 4 gene DOID:0080600 COVID-19 ISO RGD:1348582 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1588563 Slitrk4 SLIT and NTRK-like family, member 4 gene DOID:12849 autistic disorder ISO RGD:1348582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588563 Slitrk4 SLIT and NTRK-like family, member 4 gene DOID:630 genetic disease ISO RGD:1348582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588572 Tnfsf14 TNF superfamily member 14 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1588572 Tnfsf14 TNF superfamily member 14 gene DOID:2377 multiple sclerosis ISO RGD:1352930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 1588572 Tnfsf14 TNF superfamily member 14 gene DOID:2986 IgA glomerulonephritis ISS RGD:1557415 D RGD:13592920 20190627 MouseDO OMIM:161950 | OMIM:616818 1588572 Tnfsf14 TNF superfamily member 14 gene DOID:630 genetic disease ISO RGD:1352930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588572 Tnfsf14 TNF superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1352930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 1588573 Cd70 Cd70 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1351721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1588573 Cd70 Cd70 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1351721 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1588573 Cd70 Cd70 molecule gene DOID:630 genetic disease ISO RGD:1351721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588573 Cd70 Cd70 molecule gene DOID:820 myocarditis ISO RGD:1351721 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1588573 Cd70 Cd70 molecule gene DOID:9009027 Lymphoproliferative Syndrome 3 ISO RGD:1351721 D RGD:7240710 20190315 OMIM 1588573 Cd70 Cd70 molecule gene DOID:9009027 Lymphoproliferative Syndrome 3 ISO RGD:1351721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3 PMID:28011863|PMID:28011864 1588573 Cd70 Cd70 molecule gene DOID:934 viral infectious disease ISO RGD:1351721 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1588574 Tnfaip8l1 TNF alpha induced protein 8 like 1 gene DOID:630 genetic disease ISO RGD:1603272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588575 Dpp9 dipeptidyl peptidase 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1350502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 1588575 Dpp9 dipeptidyl peptidase 9 gene DOID:630 genetic disease ISO RGD:1350502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588575 Dpp9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:7240710 20230505 OMIM 1588575 Dpp9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome PMID:36112693 1588576 Kdm4b lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1588576 Kdm4b lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9587481|PMID:19270706 20141015 RGD mRNA:increased expression:brain (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:25741868 1588576 Kdm4b lysine demethylase 4B gene DOID:10283 prostate cancer ISO RGD:1349901 D RGD:9586733|PMID:22120715 20141003 RGD mRNA:increased expression:prostate (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:10534 stomach cancer ISO RGD:1349901 D RGD:9587739|PMID:22133676 20141016 RGD mRNA:increased expression:gastric mucosa (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:10534 stomach cancer severity ISO RGD:1349901 D RGD:9587753|PMID:24077348 20141016 RGD human gene in a mouse model 1588576 Kdm4b lysine demethylase 4B gene DOID:10534 stomach cancer treatment ISO RGD:1349901 D RGD:9587739|PMID:22133676 20141016 RGD human gene in a mouse model 1588576 Kdm4b lysine demethylase 4B gene DOID:11054 urinary bladder cancer ISO RGD:1349901 D RGD:9587740|PMID:21930796 20141016 RGD mRNA, protein:increased expression:urinary bladder (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:1324 lung cancer ISO RGD:1349901 D RGD:9587740|PMID:21930796 20141016 RGD mRNA, protein:increased expression:lung (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:1612 breast cancer severity ISO RGD:1349901 D RGD:9587754|PMID:21445275 20141016 RGD mRNA:decreased expression:breast (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:1612 breast cancer treatment ISO RGD:1349901 D RGD:9587754|PMID:21445275 20141016 RGD human gene in a mouse model 1588576 Kdm4b lysine demethylase 4B gene DOID:1909 melanoma ISO RGD:1349901 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 1588576 Kdm4b lysine demethylase 4B gene DOID:5940 malignant peripheral nerve sheath tumor ISO RGD:1349901 D RGD:9587769|PMID:21785329 20141017 RGD DNA:amplification:cds (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:630 genetic disease ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33232677 1588576 Kdm4b lysine demethylase 4B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349901 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588576 Kdm4b lysine demethylase 4B gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 1588576 Kdm4b lysine demethylase 4B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1349901 D RGD:9586735|PMID:22345654 20141003 RGD protein:increased expression:colon mucosa (human) 1588576 Kdm4b lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:7240710 20210526 OMIM 1588576 Kdm4b lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65 PMID:25741868|PMID:33232677 1588576 Kdm4b lysine demethylase 4B gene DOID:9256 colorectal cancer treatment ISO RGD:1349901 D RGD:9587755|PMID:24473398 20141016 RGD human gene in a mouse model 1588576 Kdm4b lysine demethylase 4B gene DOID:986 alopecia areata ISO RGD:1349901 D RGD:9587460|PMID:21936853 20141015 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) 1588577 Safb2 scaffold attachment factor B2 gene DOID:10283 prostate cancer ISO RGD:1342747 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1588577 Safb2 scaffold attachment factor B2 gene DOID:630 genetic disease ISO RGD:1342747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588578 Micos13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:7240710 20190315 OMIM 1588578 Micos13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy PMID:27485409|PMID:27623147|PMID:29618761 1588579 Rfx2 regulatory factor X2 gene DOID:0050591 tooth agenesis ISO RGD:1343231 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Tooth agenesis 1588579 Rfx2 regulatory factor X2 gene DOID:630 genetic disease ISO RGD:1343231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588580 Acsbg2 acyl-CoA synthetase bubblegum family member 2 gene DOID:630 genetic disease ISO RGD:1604279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588581 Mllt1 MLLT1, super elongation complex subunit gene DOID:2154 nephroblastoma ISO RGD:1345161 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 1588581 Mllt1 MLLT1, super elongation complex subunit gene DOID:630 genetic disease ISO RGD:1345161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588581 Mllt1 MLLT1, super elongation complex subunit gene DOID:9003133 Hypertelorism ISO RGD:1345161 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Hypertelorism 1588582 Acer1 alkaline ceramidase 1 gene DOID:630 genetic disease ISO RGD:1344470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588583 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0050857 Perrault syndrome ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24824130 1588583 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0050857 Perrault syndrome ISS RGD:1557209 D RGD:13592920 20180518 MouseDO OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 1588583 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0080490 mucolipidosis type IV ISO RGD:1343928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1588583 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:630 genetic disease ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588583 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:7240710 20130731 OMIM 1588583 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Perrault syndrome 3 PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26467025|PMID:27087618|PMID:28492532 1588585 Slc25a41 solute carrier family 25, member 41 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1588585 Slc25a41 solute carrier family 25, member 41 gene DOID:630 genetic disease ISO RGD:1604180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588586 Slc25a23 solute carrier family 25 member 23 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1588586 Slc25a23 solute carrier family 25 member 23 gene DOID:630 genetic disease ISO RGD:1343183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588588 Tbk1 TANK-binding kinase 1 gene DOID:0081013 severe COVID-19 ISO RGD:1313752 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 1588588 Tbk1 TANK-binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1588588 Tbk1 TANK-binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:7240710 20230517 OMIM 1588588 Tbk1 TANK-binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:16199547|PMID:17576681|PMID:21447600|PMID:23453972|PMID:24033266|PMID:25700176|PMID:25741868|PMID:25803835|PMID:25943890|PMID:26476236|PMID:26581300|PMID:26804609|PMID:27156075|PMID:27892983|PMID:28008748|PMID:28089114|PMID:28365590|PMID:28492532|PMID:28822984|PMID:29146049|PMID:29398122|PMID:30033073|PMID:30739198|PMID:31000212|PMID:31244341|PMID:31475037|PMID:31498468|PMID:31748271|PMID:31914217|PMID:31996268|PMID:32317127|PMID:32409511|PMID:32447396|PMID:32579787|PMID:32638105|PMID:32772249|PMID:32980182|PMID:33208543|PMID:33245169|PMID:34363755|PMID:9536098 1588588 Tbk1 TANK-binding kinase 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1313752 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 1588588 Tbk1 TANK-binding kinase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 1588588 Tbk1 TANK-binding kinase 1 gene DOID:231 motor neuron disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21447600|PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:26804609|PMID:28089114|PMID:28492532|PMID:31996268|PMID:32317127 1588588 Tbk1 TANK-binding kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1313752 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 1588588 Tbk1 TANK-binding kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:33245169 1588588 Tbk1 TANK-binding kinase 1 gene DOID:630 genetic disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588588 Tbk1 TANK-binding kinase 1 gene DOID:9000417 Glaucoma 1, Open Angle, P ISO RGD:1313752 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, P PMID:24033266|PMID:25741868|PMID:28492532 1588588 Tbk1 TANK-binding kinase 1 gene DOID:9003457 Primary Progressive Nonfluent Aphasia ISO RGD:1313752 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Primary progressive non fluent aphasia 1588588 Tbk1 TANK-binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:7240710 20230517 OMIM 1588588 Tbk1 TANK-binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 PMID:22851595|PMID:25741868|PMID:26513235|PMID:28492532|PMID:30033073|PMID:31244341 1588591 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1346068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 1588591 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346068 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1588591 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma ISO RGD:1346068 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22941189 1588591 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1346068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588591 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26005866 1588600 Glmn glomulin, FKBP associated protein gene DOID:11294 arteriovenous malformation ISO RGD:1315584 D RGD:1598992|PMID:11845407 20070110 RGD glomuvenous malformations 1588600 Glmn glomulin, FKBP associated protein gene DOID:2431 glomus tumor ISO RGD:1315584 D RGD:1598992|PMID:11845407 20070110 RGD glomuvenous malformations 1588600 Glmn glomulin, FKBP associated protein gene DOID:630 genetic disease ISO RGD:1315584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588600 Glmn glomulin, FKBP associated protein gene DOID:7996 familial glomangioma ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial glomangioma PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 1588600 Glmn glomulin, FKBP associated protein gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1315584 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Bean syndrome | ClinVar Annotator: match by term: Blue rubber bleb nevus 1588600 Glmn glomulin, FKBP associated protein gene DOID:9003557 Glomus Vagale Tumors ISO RGD:1315584 D RGD:7240710 20190315 OMIM 1588600 Glmn glomulin, FKBP associated protein gene DOID:9003557 Glomus Vagale Tumors ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomuvenous malformations | ClinVar Annotator: match by term: VENOUS MALFORMATIONS WITH GLOMUS CELLS PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 1588601 Hoxd3 homeo box D3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1344554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1588601 Hoxd3 homeo box D3 gene DOID:630 genetic disease ISO RGD:1344554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588601 Hoxd3 homeo box D3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19283074 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:7240710 20170301 OMIM 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 PMID:16199547|PMID:17576681|PMID:25678555|PMID:25741868|PMID:28007989|PMID:28492532|PMID:32117025|PMID:32461667|PMID:32820246|PMID:33497533|PMID:9536098 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy PMID:28492532|PMID:32820246|PMID:33497533 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080916 erythroleukemia ISO RGD:1348167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1348167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:10923 sickle cell anemia ISO RGD:1348167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12241 beta thalassemia ISO RGD:1348167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12971 hereditary spherocytosis ISO RGD:1348167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1348167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1826 epilepsy ISO RGD:1348167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:3247 rhabdomyosarcoma IEP D RGD:10755426|PMID:7053379 20211118 RGD 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:4450 renal cell carcinoma IEP D RGD:10755426|PMID:7053379 20211118 RGD 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:630 genetic disease ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma IAGP D RGD:5132587|PMID:2914957 20110525 RGD DNA:amplification:cds (rat) 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma IEP D RGD:10755426|PMID:7053379 20211118 RGD 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma IEP D RGD:2303530|PMID:2888462 20090218 RGD mRNA:increased expression:liver 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:5132586|PMID:13618893 20110525 RGD protein:increased activity:liver (rat) 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2303532|PMID:3973436 20090218 RGD 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002928 Colonic Neoplasms IEP D RGD:10755426|PMID:7053379 20211118 RGD 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression IEP D RGD:2303540|PMID:6030068 20090218 RGD protein:increased expression:mammary gland 1588606 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5132591|PMID:1476792 20110526 RGD protein:decreased activity:mammary gland (rat) 1588607 Rhoxf2b Rhox homeobox family member 2B gene DOID:0050437 Danon disease ISO RGD:1626578 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 1588607 Rhoxf2b Rhox homeobox family member 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626578 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1588607 Rhoxf2b Rhox homeobox family member 2B gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1626578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 1588607 Rhoxf2b Rhox homeobox family member 2B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1626578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 1588607 Rhoxf2b Rhox homeobox family member 2B gene DOID:12849 autistic disorder ISO RGD:1626578 D RGD:8554872 20220125 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588607 Rhoxf2b Rhox homeobox family member 2B gene DOID:630 genetic disease ISO RGD:1626578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588608 Tex19.2 testis expressed gene 19.2 gene DOID:630 genetic disease ISO RGD:1603143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588613 Tpgs1 tubulin polyglutamylase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1323455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588614 Ncr3lg1 natural killer cell cytotoxicity receptor 3 ligand 1 gene DOID:1059 intellectual disability ISO RGD:1601692 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1588614 Ncr3lg1 natural killer cell cytotoxicity receptor 3 ligand 1 gene DOID:630 genetic disease ISO RGD:1601692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588626 Mrpl10 mitochondrial ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1315061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588631 Pkd1l2 polycystin 1 like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1343423 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 1588631 Pkd1l2 polycystin 1 like 2 gene DOID:2843 long QT syndrome ISO RGD:1343423 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1588631 Pkd1l2 polycystin 1 like 2 gene DOID:630 genetic disease ISO RGD:1343423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588631 Pkd1l2 polycystin 1 like 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343423 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1588633 Tm4sf20 transmembrane 4 L six family member 20 gene DOID:630 genetic disease ISO RGD:1605628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588633 Tm4sf20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:7240710 20150708 OMIM 1588633 Tm4sf20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific language impairment 5 PMID:19557438|PMID:20848651|PMID:23806086|PMID:23810381|PMID:24088043|PMID:25741868 1588641 Lmtk3 lemur tyrosine kinase 3 gene DOID:1826 epilepsy ISO RGD:1351306 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1588641 Lmtk3 lemur tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1351306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588644 Pramef27 PRAME family member 27 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603804 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1588644 Pramef27 PRAME family member 27 gene DOID:630 genetic disease ISO RGD:1603804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588652 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588657 Sbf2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10932274|PMID:12687498|PMID:15304601|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:9536098 1588657 Sbf2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:16199547|PMID:17576681|PMID:24290377|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:32376792|PMID:34169998|PMID:9536098 1588657 Sbf2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:7240710 20130221 OMIM 1588657 Sbf2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma PMID:10932274|PMID:12554688|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31673878|PMID:32376792|PMID:34169998|PMID:9521281|PMID:9536098 1588657 Sbf2 SET binding factor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:21840889|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:31070812|PMID:32376792|PMID:34169998|PMID:9521281|PMID:9536098 1588657 Sbf2 SET binding factor 2 gene DOID:574 peripheral nervous system disease ISO RGD:1354184 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 1588657 Sbf2 SET binding factor 2 gene DOID:630 genetic disease ISO RGD:1354184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 1588657 Sbf2 SET binding factor 2 gene DOID:870 neuropathy ISO RGD:1354184 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 1588666 Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:4239 alveolar soft part sarcoma ISO RGD:1344232 D RGD:7240710 20130619 OMIM 1588666 Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:630 genetic disease ISO RGD:1344232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588668 Fam219a family with sequence similarity 219, member A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1588668 Fam219a family with sequence similarity 219, member A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1588668 Fam219a family with sequence similarity 219, member A gene DOID:0080942 anauxetic dysplasia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1588668 Fam219a family with sequence similarity 219, member A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1588668 Fam219a family with sequence similarity 219, member A gene DOID:630 genetic disease ISO RGD:1350147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588668 Fam219a family with sequence similarity 219, member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1588668 Fam219a family with sequence similarity 219, member A gene DOID:9870 galactosemia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1588673 Hsd17b14 hydroxysteroid (17-beta) dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1312097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588673 Hsd17b14 hydroxysteroid (17-beta) dehydrogenase 14 gene DOID:9002189 High Myopia ISO RGD:1312097 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1588686 Dhdh dihydrodiol dehydrogenase gene DOID:10283 prostate cancer ISO RGD:1323810 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1588686 Dhdh dihydrodiol dehydrogenase gene DOID:630 genetic disease ISO RGD:1323810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588686 Dhdh dihydrodiol dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 1588687 Ndufa3 NADH:ubiquinone oxidoreductase subunit A3 gene DOID:630 genetic disease ISO RGD:1323447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588700 Prdm5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:7240710 20140903 OMIM 1588700 Prdm5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 2 PMID:17576681|PMID:21664999|PMID:22122778|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892|PMID:8458232|PMID:9536098 1588700 Prdm5 PR/SET domain 5 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1318295 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:26489929 1588700 Prdm5 PR/SET domain 5 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:21664999|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892 1588700 Prdm5 PR/SET domain 5 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28492532 1588700 Prdm5 PR/SET domain 5 gene DOID:630 genetic disease ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1588700 Prdm5 PR/SET domain 5 gene DOID:65 connective tissue disease ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 1588700 Prdm5 PR/SET domain 5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1318295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1588700 Prdm5 PR/SET domain 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318295 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588722 Spmip3 sperm associated microtubule inner protein 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603542 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1588722 Spmip3 sperm associated microtubule inner protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603542 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1588722 Spmip3 sperm associated microtubule inner protein 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603542 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 1588722 Spmip3 sperm associated microtubule inner protein 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 1588722 Spmip3 sperm associated microtubule inner protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603542 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1588723 B3glct beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16909395 1588723 B3glct beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:7240710 20130605 OMIM 1588723 B3glct beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:16199547|PMID:16909395|PMID:17576681|PMID:18199743|PMID:18798333|PMID:19796186|PMID:20301637|PMID:23161355|PMID:23213277|PMID:23889335|PMID:25741868|PMID:26684045|PMID:28492532|PMID:32204707|PMID:9536098 1588723 B3glct beta 3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1604745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18798333|PMID:19796186|PMID:28492532 1588723 B3glct beta 3-glucosyltransferase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604745 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1588732 Tnip3 TNFAIP3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1346864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588732 Tnip3 TNFAIP3 interacting protein 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1346864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 1588732 Tnip3 TNFAIP3 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346864 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588733 Ccdc167 coiled-coil domain containing 167 gene DOID:630 genetic disease ISO RGD:1352845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588734 Ces3a carboxylesterase 3a gene DOID:0060041 autism spectrum disorder ISO RGD:735260 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1588734 Ces3a carboxylesterase 3a gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1588734 Ces3a carboxylesterase 3a gene DOID:0110255 cataract 5 multiple types ISO RGD:735260 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 1588734 Ces3a carboxylesterase 3a gene DOID:11394 adult respiratory distress syndrome ISO RGD:735260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 1588734 Ces3a carboxylesterase 3a gene DOID:630 genetic disease ISO RGD:735260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588734 Ces3a carboxylesterase 3a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 1588734 Ces3a carboxylesterase 3a gene DOID:9007102 Myocardial Ischemia ISO RGD:735260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1588740 Tmem213 transmembrane protein 213 gene DOID:0080690 RASopathy ISO RGD:2293900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1588740 Tmem213 transmembrane protein 213 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2293900 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1588740 Tmem213 transmembrane protein 213 gene DOID:630 genetic disease ISO RGD:2293900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588740 Tmem213 transmembrane protein 213 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:2293900 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing 1588742 Ttll11 tubulin tyrosine ligase like11 gene DOID:630 genetic disease ISO RGD:1322671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588767 Rnf212 ring finger protein 212 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604957 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1588767 Rnf212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:7240710 20211222 OMIM 1588767 Rnf212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 62 PMID:31125047 1588767 Rnf212 ring finger protein 212 gene DOID:14250 Down syndrome ISO RGD:1604957 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome 1588767 Rnf212 ring finger protein 212 gene DOID:1856 cherubism ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1588767 Rnf212 ring finger protein 212 gene DOID:3007 breast ductal carcinoma ISO RGD:1604957 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1588767 Rnf212 ring finger protein 212 gene DOID:630 genetic disease ISO RGD:1604957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588771 Cpo carboxypeptidase O gene DOID:14557 primary pulmonary hypertension ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1588771 Cpo carboxypeptidase O gene DOID:630 genetic disease ISO RGD:1342793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588771 Cpo carboxypeptidase O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342793 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588777 Rflna refilin A gene DOID:630 genetic disease ISO RGD:1606962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588779 Frmd1 FERM domain containing 1 gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:1352660 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868 1588779 Frmd1 FERM domain containing 1 gene DOID:630 genetic disease ISO RGD:1352660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588793 Smim7 small integral membrane protein 7 gene DOID:630 genetic disease ISO RGD:1601966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588807 Efcab9 EF-hand calcium binding domain 9 gene DOID:630 genetic disease ISO RGD:2301263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588810 Commd2 COMM domain containing 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1319139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1588810 Commd2 COMM domain containing 2 gene DOID:630 genetic disease ISO RGD:1319139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588822 Usp21 ubiquitin specific peptidase 21 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1588822 Usp21 ubiquitin specific peptidase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1349681 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1588822 Usp21 ubiquitin specific peptidase 21 gene DOID:630 genetic disease ISO RGD:1349681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588822 Usp21 ubiquitin specific peptidase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349681 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1588855 Dydc1 DPY30 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588859 Arhgap10 Rho GTPase activating protein 10 gene DOID:0060224 atrial fibrillation ISO RGD:1322908 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1588859 Arhgap10 Rho GTPase activating protein 10 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1588859 Arhgap10 Rho GTPase activating protein 10 gene DOID:630 genetic disease ISO RGD:1322908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588859 Arhgap10 Rho GTPase activating protein 10 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1322908 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 1588866 Dydc2 DPY30 domain containing 2 gene DOID:630 genetic disease ISO RGD:1352468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588881 Mettl27 methyltransferase like 27 gene DOID:0060041 autism spectrum disorder ISO RGD:1352777 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1588881 Mettl27 methyltransferase like 27 gene DOID:10923 sickle cell anemia ISO RGD:1352777 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1588881 Mettl27 methyltransferase like 27 gene DOID:12849 autistic disorder ISO RGD:1352777 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588881 Mettl27 methyltransferase like 27 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1352777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1588881 Mettl27 methyltransferase like 27 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1352777 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 1588881 Mettl27 methyltransferase like 27 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352777 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1588881 Mettl27 methyltransferase like 27 gene DOID:5419 schizophrenia ISO RGD:1352777 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1588881 Mettl27 methyltransferase like 27 gene DOID:630 genetic disease ISO RGD:1352777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588881 Mettl27 methyltransferase like 27 gene DOID:8445 intestinal volvulus ISO RGD:1352777 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1588881 Mettl27 methyltransferase like 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352777 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588881 Mettl27 methyltransferase like 27 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1352777 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1588883 Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1604051 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1588883 Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 gene DOID:630 genetic disease ISO RGD:1604051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588883 Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1588883 Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1588883 Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353300 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:5812 MHC class II deficiency ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:630 genetic disease ISO RGD:1353300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588886 Crct1 cysteine-rich C-terminal 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353300 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1588887 Edil3 EGF like repeats and discoidin domains 3 gene DOID:630 genetic disease ISO RGD:1343635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588887 Edil3 EGF like repeats and discoidin domains 3 gene DOID:8398 osteoarthritis ISO RGD:1343635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1588887 Edil3 EGF like repeats and discoidin domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343635 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588894 Gid4 GID complex subunit 4 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1322085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1588894 Gid4 GID complex subunit 4 gene DOID:0050777 Joubert syndrome ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1588894 Gid4 GID complex subunit 4 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1322085 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1588894 Gid4 GID complex subunit 4 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 1588894 Gid4 GID complex subunit 4 gene DOID:12849 autistic disorder ISO RGD:1322085 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1588894 Gid4 GID complex subunit 4 gene DOID:630 genetic disease ISO RGD:1322085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588903 Kri1 KRI1 homolog gene DOID:630 genetic disease ISO RGD:1607005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588939 Ric3 RIC3 acetylcholine receptor chaperone gene DOID:630 genetic disease ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1588939 Ric3 RIC3 acetylcholine receptor chaperone gene DOID:8501 fundus dystrophy ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 1588939 Ric3 RIC3 acetylcholine receptor chaperone gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1606245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity PMID:16199547|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789 1588959 Zfp526 zinc finger protein 526 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602838 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 1588959 Zfp526 zinc finger protein 526 gene DOID:1059 intellectual disability ISO RGD:1602838 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1588959 Zfp526 zinc finger protein 526 gene DOID:1059 intellectual disability ISO RGD:1602838 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1588959 Zfp526 zinc finger protein 526 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1588959 Zfp526 zinc finger protein 526 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1588959 Zfp526 zinc finger protein 526 gene DOID:2340 craniosynostosis ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 1588959 Zfp526 zinc finger protein 526 gene DOID:5419 schizophrenia ISO RGD:1602838 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1588959 Zfp526 zinc finger protein 526 gene DOID:630 genetic disease ISO RGD:1602838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1588959 Zfp526 zinc finger protein 526 gene DOID:6420 pulmonary valve stenosis ISO RGD:1602838 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25558065|PMID:25741868 1588959 Zfp526 zinc finger protein 526 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1588959 Zfp526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:7240710 20220615 OMIM 1588959 Zfp526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dentici-Novelli neurodevelopmental syndrome PMID:25558065|PMID:25741868|PMID:33397746 1588959 Zfp526 zinc finger protein 526 gene DOID:9003816 Macrocephaly ISO RGD:1602838 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Macrocephaly 1588959 Zfp526 zinc finger protein 526 gene DOID:9269 maple syrup urine disease ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1588968 Dedd2 death effector domain containing 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1353632 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 1588968 Dedd2 death effector domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1588968 Dedd2 death effector domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1588968 Dedd2 death effector domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 1588968 Dedd2 death effector domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1353632 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1588968 Dedd2 death effector domain containing 2 gene DOID:630 genetic disease ISO RGD:1353632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588968 Dedd2 death effector domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1588968 Dedd2 death effector domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347062 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:630 genetic disease ISO RGD:1347062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347062 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1588981 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1588987 Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 1588987 Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:630 genetic disease ISO RGD:1350967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1588998 Sdhaf4 succinate dehydrogenase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1319485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589004 Syndig1l synapse differentiation inducing 1-like gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1602232 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 1589004 Syndig1l synapse differentiation inducing 1-like gene DOID:1059 intellectual disability ISO RGD:1602232 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1589004 Syndig1l synapse differentiation inducing 1-like gene DOID:630 genetic disease ISO RGD:1602232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589007 Jazf1 JAZF zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604718 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1589007 Jazf1 JAZF zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589007 Jazf1 JAZF zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 1589007 Jazf1 JAZF zinc finger 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1604718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 1589007 Jazf1 JAZF zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1604718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 1589007 Jazf1 JAZF zinc finger 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 1589018 Otogl otogelin-like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:7240710 20140911 OMIM 1589018 Otogl otogelin-like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 84b PMID:16199547|PMID:17576681|PMID:23122586|PMID:23850727|PMID:24033266|PMID:25719458|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841|PMID:9536098 1589018 Otogl otogelin-like gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1603526 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 1589018 Otogl otogelin-like gene DOID:11372 megacolon ISO RGD:1603526 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1589018 Otogl otogelin-like gene DOID:630 genetic disease ISO RGD:1603526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:23122586|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 1589018 Otogl otogelin-like gene DOID:9004538 Hearing Loss ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 1589019 Myl6 myosin light chain 6 gene DOID:630 genetic disease ISO RGD:1313756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589026 Lrr1 leucine rich repeat protein 1 gene DOID:630 genetic disease ISO RGD:1322717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589026 Lrr1 leucine rich repeat protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1589026 Lrr1 leucine rich repeat protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1589027 Ubxn2a UBX domain protein 2A gene DOID:630 genetic disease ISO RGD:1320427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589037 C5h9orf152 similar to human chromosome 9 open reading frame 152 gene DOID:630 genetic disease ISO RGD:1342470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589046 Ifnl3 interferon, lambda 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1348657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1589046 Ifnl3 interferon, lambda 3 gene DOID:1588 thrombocytopenia treatment ISO RGD:1348657 D RGD:11528555|PMID:24304453 20160815 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:1883 hepatitis C ISO RGD:1348657 D RGD:7240710 20230505 OMIM 1589046 Ifnl3 interferon, lambda 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1348657 D RGD:11528545|PMID:25864220 20160812 RGD associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:1883 hepatitis C treatment ISO RGD:1348657 D RGD:11528544|PMID:24522196 20160812 RGD associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:2841 asthma ISO RGD:1348657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22295096 1589046 Ifnl3 interferon, lambda 3 gene DOID:2917 cryoglobulinemia severity ISO RGD:1348657 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) PMID:24293567|REF_RGD_ID:11528546 1589046 Ifnl3 interferon, lambda 3 gene DOID:2917 cryoglobulinemia susceptibility ISO RGD:1348657 D RGD:11528546|PMID:24293567 20160812 RGD associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:3044 food allergy ISO RGD:1348657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22295096 1589046 Ifnl3 interferon, lambda 3 gene DOID:3310 atopic dermatitis ISO RGD:1348657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22295096 1589046 Ifnl3 interferon, lambda 3 gene DOID:5082 liver cirrhosis treatment ISO RGD:1348657 D RGD:11528558|PMID:23145809 20160815 RGD associated with Hepatitis C;DNA:SNP: :rs8099917 (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348657 D RGD:11554173 20200407 CTD CTD Direct Evidence: therapeutic PMID:21304406 1589046 Ifnl3 interferon, lambda 3 gene DOID:630 genetic disease ISO RGD:1348657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589046 Ifnl3 interferon, lambda 3 gene DOID:9000548 Drug-induced Anemia severity ISO RGD:1348657 D RGD:11528554|PMID:26933517 20160815 RGD associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9000998 Brain Injuries ISO RGD:1348657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:11096670|PMID:24355007 20201205 RGD DNA:SNP:enhancer: (rs8099917) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:11344289|PMID:26741362 20201204 RGD DNA:SNP:enhancer: (rs12979860,rs8099917) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:11528556|PMID:21615377 20160815 RGD associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:14398733|PMID:25788203 20190425 RGD DNA:SNP:enhancer: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:14398740|PMID:28638221 20190424 RGD DNA:SNP:3' utr: (rs4803217) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:40886281|PMID:24376784 20201204 RGD DNA:SNP:enhancer: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348657 D RGD:40886290|PMID:28186161 20201205 RGD DNA:SNP:enhancer: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1348657 D RGD:40886292|PMID:24646752 20201205 RGD DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:10766476|PMID:23730840 20160208 RGD DNA:SNP: :rs8099917 (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:40400891|PMID:28739427 20201105 RGD DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:40822824|PMID:25283962 20201202 RGD DNA:SNP:5'utr: (rs12979860) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348657 D RGD:40886277|PMID:27027531 20201203 RGD DNA:SNP:enhancer: (rs8099917) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9005372 Inflammation ISO RGD:1348657 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28394349 1589046 Ifnl3 interferon, lambda 3 gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1348657 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28394349 1589046 Ifnl3 interferon, lambda 3 gene DOID:9007996 End Stage Liver Disease treatment ISO RGD:1348657 D RGD:40400912|PMID:25130512 20201105 RGD DNA:SNPs:5'utr: (rs12979860, rs8099917) (human) 1589046 Ifnl3 interferon, lambda 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1589047 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1589047 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 1589047 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:557 kidney disease ISO RGD:1353448 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868 1589047 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:630 genetic disease ISO RGD:1353448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589052 Znf740 zinc finger protein 740 gene DOID:630 genetic disease ISO RGD:1603524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589060 Rprml reprimo-like gene DOID:630 genetic disease ISO RGD:1604446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:7240710 20130221 OMIM 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:16199547|PMID:17576681|PMID:20179356|PMID:21068128|PMID:25741868|PMID:28492532|PMID:32660933|PMID:9536098 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:557 kidney disease ISO RGD:1603202 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 1589063 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1603202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1589072 Cnpy2 canopy FGF signaling regulator 2 gene DOID:630 genetic disease ISO RGD:1350709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589072 Cnpy2 canopy FGF signaling regulator 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350709 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1589072 Cnpy2 canopy FGF signaling regulator 2 gene DOID:9000918 Disease Progression ISO RGD:1350709 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 1589072 Cnpy2 canopy FGF signaling regulator 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1350709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 1589096 Krtap26-1 keratin associated protein 26-1 gene DOID:630 genetic disease ISO RGD:1603240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589125 Ubl4b ubiquitin-like 4B gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1589125 Ubl4b ubiquitin-like 4B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1589125 Ubl4b ubiquitin-like 4B gene DOID:12849 autistic disorder ISO RGD:1602973 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589125 Ubl4b ubiquitin-like 4B gene DOID:630 genetic disease ISO RGD:1602973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589127 Upf1 UPF1, RNA helicase and ATPase gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1313946 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1589127 Upf1 UPF1, RNA helicase and ATPase gene DOID:1059 intellectual disability ISO RGD:1313946 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868 1589127 Upf1 UPF1, RNA helicase and ATPase gene DOID:630 genetic disease ISO RGD:1313946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589127 Upf1 UPF1, RNA helicase and ATPase gene DOID:9008582 Developmental Disease ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1589127 Upf1 UPF1, RNA helicase and ATPase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1589130 Gp6 glycoprotein VI gene DOID:0111057 platelet-type bleeding disorder 11 ISO RGD:1343427 D RGD:7240710 20140903 OMIM 1589130 Gp6 glycoprotein VI gene DOID:0111057 platelet-type bleeding disorder 11 ISO RGD:1343427 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 PMID:19549989|PMID:19552682|PMID:23815599|PMID:25741868|PMID:28492532|PMID:29232918|PMID:32935436 1589130 Gp6 glycoprotein VI gene DOID:2213 hemorrhagic disease ISO RGD:1343427 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:19549989|PMID:23815599|PMID:25741868|PMID:28492532|PMID:29232918|PMID:31064749|PMID:32935436 1589130 Gp6 glycoprotein VI gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1618116 D RGD:7242710|PMID:20651232 20130416 RGD 1589130 Gp6 glycoprotein VI gene DOID:630 genetic disease ISO RGD:1343427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589140 Nlrp2 NLR family pyrin domain containing 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344725 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1589140 Nlrp2 NLR family pyrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589140 Nlrp2 NLR family pyrin domain containing 2 gene DOID:9008905 Oocyte/Zygote/Embryo Maturation Arrest 18 ISO RGD:1344725 D RGD:7240710 20230505 OMIM 1589140 Nlrp2 NLR family pyrin domain containing 2 gene DOID:9008905 Oocyte/Zygote/Embryo Maturation Arrest 18 ISO RGD:1344725 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18 PMID:30877238 1589147 Echdc3 enoyl CoA hydratase domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351756 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1589147 Echdc3 enoyl CoA hydratase domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1351756 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589147 Echdc3 enoyl CoA hydratase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589149 Gba glucosylceramidase beta gene DOID:0050474 Netherton syndrome severity ISO RGD:1607089 D RGD:5508433|PMID:16601670 20111017 RGD protein:decreased expression:epidermis stratum corneum 1589149 Gba glucosylceramidase beta gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1589149 Gba glucosylceramidase beta gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:7240710 20130221 OMIM 1589149 Gba glucosylceramidase beta gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:10079102|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15967693|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:0080855 Parkinsonism ISO RGD:1607089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25881142 1589149 Gba glucosylceramidase beta gene DOID:0080855 Parkinsonism ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:10079102|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:11903352|PMID:12595585|PMID:12791040|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15967693|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:1864608|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:20947659|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22451204|PMID:22623374|PMID:22713811|PMID:22820396|PMID:22975760|PMID:23035075|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27312774|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30285649|PMID:30302829|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 1589149 Gba glucosylceramidase beta gene DOID:0080855 Parkinsonism severity ISO RGD:1607089 D RGD:5508426|PMID:20838799 20111017 RGD DNA:missense mutations:cds:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1607089 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868 1589149 Gba glucosylceramidase beta gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:7240710 20190227 OMIM 1589149 Gba glucosylceramidase beta gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:10079102|PMID:10340647|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16199547|PMID:16293621|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19459886|PMID:19513999|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22493294|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23448517|PMID:2349952|PMID:23508695|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24513544|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26316492|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28580830|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153 1589149 Gba glucosylceramidase beta gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:3180993|PMID:31816052|PMID:31943857|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32707456|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 1589149 Gba glucosylceramidase beta gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:7240710 20180926 OMIM 1589149 Gba glucosylceramidase beta gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type PMID:10079102|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26117366|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:7240710 20180905 OMIM 1589149 Gba glucosylceramidase beta gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type PMID:10466427|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8929950|PMID:9040001|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036|PMID:9650766 1589149 Gba glucosylceramidase beta gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:7240710 20130221 OMIM 1589149 Gba glucosylceramidase beta gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal PMID:10079102|PMID:10352942|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15214004|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15967693|PMID:16061944|PMID:16293621|PMID:16546416|PMID:16967369|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20005137|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22375149|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:3180993|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9375849|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:0111940 immunodeficiency 42 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1589149 Gba glucosylceramidase beta gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1589149 Gba glucosylceramidase beta gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1589149 Gba glucosylceramidase beta gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:7240710 20131030 OMIM 1589149 Gba glucosylceramidase beta gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12482401|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16061944|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9375849|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:22803570|PMID:33589841 1589149 Gba glucosylceramidase beta gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:12791014|PMID:25933391 20170227 RGD DNA:missense mutations, frameshift mutation:cds:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:5508424|PMID:20971030 20111017 RGD DNA:missense mutations:cds:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:7240710 20130221 OMIM 1589149 Gba glucosylceramidase beta gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:10079102|PMID:10352942|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22344629|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26792850|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263 1589149 Gba glucosylceramidase beta gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:10450518|PMID:26223426 20160115 RGD 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:10450521|PMID:25639775 20160115 RGD 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20947659|PMID:25064009 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:12791016|PMID:24126159 20170227 RGD DNA:mutations:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:5508422|PMID:21242499 20111017 RGD DNA:missense mutations:cds:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:5508425|PMID:20947659 20111017 RGD DNA:missense mutations:cds:p.E326K, p.T369M (human) 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease no_association ISO RGD:1607089 D RGD:5508429|PMID:19945510 20111017 RGD DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) 1589149 Gba glucosylceramidase beta gene DOID:14330 Parkinson's disease onset ISO RGD:1607089 D RGD:5508427|PMID:20528910 20111017 RGD DNA:missense mutation:cds:p.N370S (human) 1589149 Gba glucosylceramidase beta gene DOID:1540 parathyroid carcinoma ISO RGD:1607089 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589149 Gba glucosylceramidase beta gene DOID:1588 thrombocytopenia ISO RGD:1607089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10796875|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:9101438|PMID:10757640|PMID:12359135|PMID:21250698|PMID:21370884|PMID:26027833 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:12791017|PMID:18586596 20170227 RGD DNA:missense mutations, deletion:cds:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:12791018|PMID:17059888 20170227 RGD DNA:mutations:cds, intron:multiple (human) 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:5508423|PMID:21112800 20111017 RGD 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis PMID:10079102|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11600137|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12000368|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12667990|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14509164|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16326120|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18078074|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19433656|PMID:19459886|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19790257|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21831682|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22247978|PMID:22344629|PMID:22350617|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:23936319|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25637381|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26008600|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008195|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:3180993|PMID:31816052|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32623306|PMID:32658388|PMID:32677286|PMID:32707456|PMID:32714263|PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7500895|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8547070|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 1589149 Gba glucosylceramidase beta gene DOID:1926 Gaucher's disease ISO RGD:1623310 D RGD:5508431|PMID:21252206 20111017 RGD 1589149 Gba glucosylceramidase beta gene DOID:2213 hemorrhagic disease ISO RGD:1607089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10466427|PMID:10757640|PMID:10796875|PMID:12482401|PMID:12595585|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16981045|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8081401|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9153297|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:480 movement disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 1589149 Gba glucosylceramidase beta gene DOID:5812 MHC class II deficiency ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1589149 Gba glucosylceramidase beta gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10079102|PMID:10369158|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15329082|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22247978|PMID:22344629|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22820396|PMID:2295698|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23035075|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:24801745|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26008600|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26689913|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27007895|PMID:27008195|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27136700|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28030538|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29854527|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32031266|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7857677|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045 1589149 Gba glucosylceramidase beta gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9175735|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554454|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:6432 pulmonary hypertension ISO RGD:1607089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 1589149 Gba glucosylceramidase beta gene DOID:687 hepatoblastoma ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868 1589149 Gba glucosylceramidase beta gene DOID:8893 psoriasis ISO RGD:1607089 D RGD:5508434|PMID:15610510 20111017 RGD 1589149 Gba glucosylceramidase beta gene DOID:9000495 Tremor ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Resting tremor PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 1589149 Gba glucosylceramidase beta gene DOID:9005372 Inflammation ISO RGD:1623310 D RGD:5508435|PMID:11994410 20111017 RGD 1589149 Gba glucosylceramidase beta gene DOID:9005940 Autosomal Dominant Diffuse Lewy Body Disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 1589149 Gba glucosylceramidase beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607089 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589151 Tram2 translocation associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:1345669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589156 Ctso cathepsin O gene DOID:630 genetic disease ISO RGD:1343138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589158 Crtc1 CREB regulated transcription coactivator 1 gene DOID:1470 major depressive disorder ISS RGD:1614777 D RGD:13592920 20180518 MouseDO OMIM:608520 | OMIM:608691 1589158 Crtc1 CREB regulated transcription coactivator 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:4891138|PMID:20417695 20141219 RGD 1589158 Crtc1 CREB regulated transcription coactivator 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1320323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 1589158 Crtc1 CREB regulated transcription coactivator 1 gene DOID:630 genetic disease ISO RGD:1320323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589158 Crtc1 CREB regulated transcription coactivator 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1348258 D RGD:10411900|PMID:15485486 20151110 RGD mRNA, protein:increased expression: frontal cortex 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1616662 D RGD:9686062|PMID:21912965 20150129 RGD mRNA:decreased expression:neocortex (mouse) 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:11446 sciatic neuropathy IEP D RGD:10411908|PMID:17855600 20151110 RGD 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:12849 autistic disorder ISO RGD:1348258 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus IEP D RGD:10411905|PMID:20971086 20151110 RGD 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus IEP D RGD:9686050|PMID:17942314 20150128 RGD mRNA:decreased expression:subiculum, perirhinal cortex, entorhinal cortex (rat) 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20971086 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1348258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589169 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:9002211 Hyperalgesia IMP D RGD:10411908|PMID:17855600 20151110 RGD 1589201 Dppa2 developmental pluripotency-associated 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1348790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1589201 Dppa2 developmental pluripotency-associated 2 gene DOID:630 genetic disease ISO RGD:1348790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:0050873 follicular lymphoma ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1615155 D RGD:151347600|PMID:27253414 20220127 RGD 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080600 COVID-19 ISO RGD:1351803 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351803 D RGD:7240710 20190315 OMIM 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1351803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like | ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 PMID:24728327|PMID:25741868|PMID:26642243|PMID:28492532|PMID:29241730|PMID:30810840|PMID:31625129|PMID:32666380 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:1612 breast cancer ameliorates ISO RGD:1351803 D RGD:151347436|PMID:28892081 20220127 RGD associated with Neoplasm Metastasis; human cells in mouse model 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:151347529|PMID:27991929 20220126 RGD protein:decreased expression:colon (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:151347624|PMID:24099634 20220131 RGD mRNA,protein:increased expression:colon (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:219 colon cancer treatment ISO RGD:1615155 D RGD:151347529|PMID:27991929 20220126 RGD associated with Experimental Colitis 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:2377 multiple sclerosis ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351803 D RGD:151347617|PMID:28197630 20220128 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:417 autoimmune disease ISO RGD:1351803 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1351803 D RGD:11250478|PMID:26485275 20220128 RGD protein:increased expression:bile duct (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1351803 D RGD:151347597|PMID:25354935 20220127 RGD DNA:SNP:intron 6: (rs610604) (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer severity ISO RGD:1351803 D RGD:11075880|PMID:26598072 20220128 RGD DNA:SNP:3'utr: (rs583522) (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:5517 stomach carcinoma ISO RGD:1351803 D RGD:151347607|PMID:31153693 20220128 RGD mRNA,protein:increased expression:stomach (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:630 genetic disease ISO RGD:1351803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:151347604|PMID:32015333 20220128 RGD protein:decreased expression:liver (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:151347622|PMID:29190981 20220128 RGD mRNA:decreased expression:liver (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1351803 D RGD:151347618|PMID:26538215 20220128 RGD mRNA,protein:increased expression:liver (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1615155 D RGD:151347600|PMID:27253414 20220127 RGD 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1351803 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:21841782|PMID:23143596|PMID:30224649 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:8577 ulcerative colitis severity ISO RGD:1351803 D RGD:151347619|PMID:28842689 20220128 RGD mRNA,protein:increased expression, decreased expression:colonic mucosa (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:8893 psoriasis ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1351803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9005372 Inflammation ISO RGD:1351803 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26642243 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351803 D RGD:151347613|PMID:28784141 20220128 RGD DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19165918|PMID:19165919|PMID:19838193|PMID:21336280 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9256 colorectal cancer severity ISO RGD:1351803 D RGD:151347611|PMID:22843550 20220128 RGD DNA:SNP:3'utr: (rs6920220) (human) 1589275 Tnfaip3 TNF alpha induced protein 3 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1351803 D RGD:151347434|PMID:26149137 20220127 RGD 1589285 Ahsa1 activator of Hsp90 ATPase activity 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1346562 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589285 Ahsa1 activator of Hsp90 ATPase activity 1 gene DOID:630 genetic disease ISO RGD:1346562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589291 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1351893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190753 1589291 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1351893 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589291 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:1351893 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:31319225 1589291 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:7240710 20190918 OMIM 1589291 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 PMID:20190753|PMID:25741868|PMID:28492532|PMID:31479177 1589291 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:630 genetic disease ISO RGD:1351893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589335 Mpnd MPN domain containing gene DOID:0080600 COVID-19 ISO RGD:1605915 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589335 Mpnd MPN domain containing gene DOID:13938 amenorrhea ISO RGD:1605915 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1589335 Mpnd MPN domain containing gene DOID:630 genetic disease ISO RGD:1605915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589336 Tmed8 transmembrane p24 trafficking protein family member 8 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1347349 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589336 Tmed8 transmembrane p24 trafficking protein family member 8 gene DOID:630 genetic disease ISO RGD:1347349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589343 Ism2 isthmin 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1603577 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589343 Ism2 isthmin 2 gene DOID:630 genetic disease ISO RGD:1603577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589353 Noxred1 NADP-dependent oxidoreductase domain containing 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1348173 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589353 Noxred1 NADP-dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1352057 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:0080600 COVID-19 ISO RGD:1352057 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:11054 urinary bladder cancer ISO RGD:1352057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:3426 vestibular disease ISO RGD:1352057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:630 genetic disease ISO RGD:1352057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:7240710 20190315 OMIM 1589363 Gstz1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency PMID:25741868|PMID:27876694 1589368 Samd15 sterile alpha motif domain containing 15 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1606691 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 1589368 Samd15 sterile alpha motif domain containing 15 gene DOID:630 genetic disease ISO RGD:1606691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589375 Utf1 undifferentiated embryonic cell transcription factor 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346918 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 1589375 Utf1 undifferentiated embryonic cell transcription factor 1 gene DOID:630 genetic disease ISO RGD:1346918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589379 Fcrl5 Fc receptor-like 5 gene DOID:0080600 COVID-19 ISO RGD:1606497 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589379 Fcrl5 Fc receptor-like 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606497 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589379 Fcrl5 Fc receptor-like 5 gene DOID:630 genetic disease ISO RGD:1606497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589379 Fcrl5 Fc receptor-like 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606497 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589384 Golm1 golgi membrane protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322921 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1589384 Golm1 golgi membrane protein 1 gene DOID:630 genetic disease ISO RGD:1322921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589384 Golm1 golgi membrane protein 1 gene DOID:9006205 Animal Disease Models ISO RGD:1322921 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1589398 Tcf24 transcription factor 24 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1602784 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 1589398 Tcf24 transcription factor 24 gene DOID:630 genetic disease ISO RGD:1602784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589408 Tpk1 thiamin pyrophosphokinase 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1348190 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:27439707 1589408 Tpk1 thiamin pyrophosphokinase 1 gene DOID:630 genetic disease ISO RGD:1348190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22152682|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896 1589408 Tpk1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:7240710 20140903 OMIM 1589408 Tpk1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:16199547|PMID:17576681|PMID:22152682|PMID:25458521|PMID:25640679|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896|PMID:30789823|PMID:31288420|PMID:31404531|PMID:32679198|PMID:33086386|PMID:9536098 1589411 Fcrl1 Fc receptor-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602077 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589411 Fcrl1 Fc receptor-like 1 gene DOID:630 genetic disease ISO RGD:1602077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589411 Fcrl1 Fc receptor-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602077 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589413 Radx RPA1 related single stranded DNA binding protein, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605981 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589413 Radx RPA1 related single stranded DNA binding protein, X-linked gene DOID:12849 autistic disorder ISO RGD:1605981 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6480141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:6480141 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:6480141 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:6480141 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:6480141 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6480141 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:6480141 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1589420 Fndc10 fibronectin type III domain containing 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1589429 Tafa2 TAFA chemokine like family member 2 gene DOID:2030 anxiety disorder ISO RGD:1345895 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 1589429 Tafa2 TAFA chemokine like family member 2 gene DOID:630 genetic disease ISO RGD:1345895 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589429 Tafa2 TAFA chemokine like family member 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345895 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 1589436 Ceacam19 CEA cell adhesion molecule 19 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 1589436 Ceacam19 CEA cell adhesion molecule 19 gene DOID:630 genetic disease ISO RGD:1601983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589456 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1589456 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1606459 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 1589456 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589456 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606459 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589456 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1589460 Ppp1r16b protein phosphatase 1, regulatory subunit 16B gene DOID:2234 focal epilepsy ISO RGD:1322272 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1589460 Ppp1r16b protein phosphatase 1, regulatory subunit 16B gene DOID:630 genetic disease ISO RGD:1322272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589461 H2ac4 H2A clustered histone 4 gene DOID:630 genetic disease ISO RGD:1345991 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589465 Bcl3 BCL3, transcription coactivator gene DOID:1936 atherosclerosis ISO RGD:1314971 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25374339 1589465 Bcl3 BCL3, transcription coactivator gene DOID:630 genetic disease ISO RGD:1314971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589465 Bcl3 BCL3, transcription coactivator gene DOID:649 prion disease severity ISO RGD:1314972 D RGD:40902830|PMID:17573907 20201214 RGD 1589465 Bcl3 BCL3, transcription coactivator gene DOID:9003370 Dyslipidemias ISO RGD:1314971 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 1589467 Ebi3 Epstein-Barr virus induced 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353395 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1589467 Ebi3 Epstein-Barr virus induced 3 gene DOID:10591 pre-eclampsia ameliorates IEP D RGD:213230155|PMID:31203154 20230323 RGD 1589467 Ebi3 Epstein-Barr virus induced 3 gene DOID:13938 amenorrhea ISO RGD:1353395 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1589467 Ebi3 Epstein-Barr virus induced 3 gene DOID:2841 asthma ISO RGD:1615927 D RGD:5128488|PMID:21255010 20110304 RGD 1589467 Ebi3 Epstein-Barr virus induced 3 gene DOID:630 genetic disease ISO RGD:1353395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589467 Ebi3 Epstein-Barr virus induced 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1589474 Lcn12 lipocalin 12 gene DOID:0050777 Joubert syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1589474 Lcn12 lipocalin 12 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:0081097 Rafiq syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1589474 Lcn12 lipocalin 12 gene DOID:1826 epilepsy ISO RGD:1350830 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1589474 Lcn12 lipocalin 12 gene DOID:3652 Leigh disease ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1589474 Lcn12 lipocalin 12 gene DOID:630 genetic disease ISO RGD:1350830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589474 Lcn12 lipocalin 12 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050753 cerebellar ataxia ISO RGD:1606287 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050952 spastic ataxia ISO RGD:1606287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25044680|PMID:25741868|PMID:28492532|PMID:34445196 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:33600046 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1606287 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:33600046 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:7240710 20140911 OMIM 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:12920088|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25044680|PMID:25558065|PMID:25590979|PMID:25741868|PMID:25880436|PMID:26115735|PMID:26805434|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31130284|PMID:31589614|PMID:31607746|PMID:32214227|PMID:33600046|PMID:34445196|PMID:9536098 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:630 genetic disease ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25558065|PMID:25590979|PMID:25741868|PMID:26115735|PMID:28492532|PMID:31607746|PMID:9536098 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1589491 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004657 Weight Gain ISO RGD:1606287 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1603839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25583766 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1603839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:25741868|PMID:28492532 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:7240710 20190315 OMIM 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 PMID:24033266|PMID:25741868|PMID:27016798|PMID:28492532 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603839 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589517 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603839 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589526 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347235 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589526 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1347235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589526 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347235 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589530 Cenpp centromere protein P gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1603809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1589530 Cenpp centromere protein P gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 1589530 Cenpp centromere protein P gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1589530 Cenpp centromere protein P gene DOID:630 genetic disease ISO RGD:1603809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589548 Slc35f3 solute carrier family 35, member F3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347980 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589548 Slc35f3 solute carrier family 35, member F3 gene DOID:630 genetic disease ISO RGD:1347980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589548 Slc35f3 solute carrier family 35, member F3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347980 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:0050328 congenital hypothyroidism ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532|PMID:28983057|PMID:30446499|PMID:32757236 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:0060651 MYH-9 related disease ISO RGD:1345439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss PMID:25741868 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:7240710 20130731 OMIM 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant PMID:18849486|PMID:24344610|PMID:24777453|PMID:25741868|PMID:27346686|PMID:27479822|PMID:28054583|PMID:28492532|PMID:28983057|PMID:30446499|PMID:31064749|PMID:31249973|PMID:31565851|PMID:32757236|PMID:32892537|PMID:33400601|PMID:34355501|PMID:34516618 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:1588 thrombocytopenia ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34516618 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:2213 hemorrhagic disease ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:18849486|PMID:25741868|PMID:27479822|PMID:28492532|PMID:32892537|PMID:32935436|PMID:33400601 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:630 genetic disease ISO RGD:1345439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1589557 Tubb1 tubulin, beta 1 class VI gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345439 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 1589570 Or2t26 olfactory receptor family 2 subfamily T member 26 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1352477 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1589570 Or2t26 olfactory receptor family 2 subfamily T member 26 gene DOID:1540 parathyroid carcinoma ISO RGD:1352477 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589570 Or2t26 olfactory receptor family 2 subfamily T member 26 gene DOID:630 genetic disease ISO RGD:1352477 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589570 Or2t26 olfactory receptor family 2 subfamily T member 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352477 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589570 Or2t26 olfactory receptor family 2 subfamily T member 26 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352477 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589573 Slc41a3 solute carrier family 41, member 3 gene DOID:630 genetic disease ISO RGD:1343810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589573 Slc41a3 solute carrier family 41, member 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343810 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 1589573 Slc41a3 solute carrier family 41, member 3 gene DOID:9270 alkaptonuria ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1589574 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:0060852 Pierson syndrome ISO RGD:1350970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1589574 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:630 genetic disease ISO RGD:1350970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589574 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350970 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1589574 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1350970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868|PMID:28492532 1589574 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9268 glycine encephalopathy ISO RGD:1350970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:23352163|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27620832|PMID:28492532|PMID:30105116|PMID:8005589|PMID:9536098|PMID:9621520 1589575 Nrbp1 nuclear receptor binding protein 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1589575 Nrbp1 nuclear receptor binding protein 1 gene DOID:630 genetic disease ISO RGD:1354113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589576 Rnf14 ring finger protein 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1589576 Rnf14 ring finger protein 14 gene DOID:0111510 Marshall syndrome ISO RGD:1605715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 1589576 Rnf14 ring finger protein 14 gene DOID:630 genetic disease ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 1589576 Rnf14 ring finger protein 14 gene DOID:7765 Coats disease ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 1589576 Rnf14 ring finger protein 14 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome PMID:22822038|PMID:25741868|PMID:30178464 1589576 Rnf14 ring finger protein 14 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1605715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 1589576 Rnf14 ring finger protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 1589576 Rnf14 ring finger protein 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1589577 Sohlh2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:1603036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589591 Eif2a eukaryotic translation initiation factor 2A gene DOID:0050579 glycogen storage disease XV ISO RGD:1605026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1589591 Eif2a eukaryotic translation initiation factor 2A gene DOID:5154 borna disease IEP D RGD:32733622|PMID:16912310 20200701 RGD protein:increased expression:cerebellum,hippocampus 1589591 Eif2a eukaryotic translation initiation factor 2A gene DOID:630 genetic disease ISO RGD:1605026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589591 Eif2a eukaryotic translation initiation factor 2A gene DOID:9004009 Reperfusion Injury ISO RGD:1605026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 1589591 Eif2a eukaryotic translation initiation factor 2A gene DOID:9007102 Myocardial Ischemia ISO RGD:1605026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 1589601 Yju2 YJU2 splicing factor gene DOID:13938 amenorrhea ISO RGD:1603997 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1589602 Plin5 perilipin 5 gene DOID:13938 amenorrhea ISO RGD:2881444 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1589602 Plin5 perilipin 5 gene DOID:630 genetic disease ISO RGD:2881444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589603 Mydgf myeloid-derived growth factor gene DOID:0080600 COVID-19 ISO RGD:1345552 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589603 Mydgf myeloid-derived growth factor gene DOID:630 genetic disease ISO RGD:1345552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589603 Mydgf myeloid-derived growth factor gene DOID:9000058 Keloid ISO RGD:1345552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1589604 Ranbp3 RAN binding protein 3 gene DOID:630 genetic disease ISO RGD:1313698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589624 Vwc2 von Willebrand factor C domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603838 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1589624 Vwc2 von Willebrand factor C domain containing 2 gene DOID:630 genetic disease ISO RGD:1603838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589640 Zfp804b zinc finger protein 804B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601814 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1589640 Zfp804b zinc finger protein 804B gene DOID:630 genetic disease ISO RGD:1601814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589642 Cbln4 cerebellin 4 precursor gene DOID:630 genetic disease ISO RGD:1346675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589649 Napb NSF attachment protein beta gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:33189936 1589649 Napb NSF attachment protein beta gene DOID:10283 prostate cancer ISO RGD:1317299 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1589649 Napb NSF attachment protein beta gene DOID:10652 Alzheimer's disease ISO RGD:1317299 D RGD:10412652|PMID:11244216 20151118 RGD protein:decreased expression:temporal cortex 1589649 Napb NSF attachment protein beta gene DOID:14250 Down syndrome ISO RGD:1317299 D RGD:10412652|PMID:11244216 20151118 RGD protein:decreased expression:temporal cortex 1589649 Napb NSF attachment protein beta gene DOID:630 genetic disease ISO RGD:1317299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589649 Napb NSF attachment protein beta gene DOID:9004803 Developmental and Epileptic Encephalopathy 107 ISO RGD:1317299 D RGD:7240710 20220921 OMIM 1589649 Napb NSF attachment protein beta gene DOID:9004803 Developmental and Epileptic Encephalopathy 107 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy-107 PMID:25741868|PMID:26235277|PMID:28097321|PMID:33189936 1589650 Prxl2c peroxiredoxin like 2C gene DOID:1059 intellectual disability ISO RGD:1313944 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589650 Prxl2c peroxiredoxin like 2C gene DOID:630 genetic disease ISO RGD:1313944 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589651 LOC498675 hypothetical LOC498675 gene DOID:0060852 Pierson syndrome ISO RGD:1602042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1589651 LOC498675 hypothetical LOC498675 gene DOID:630 genetic disease ISO RGD:1602042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589651 LOC498675 hypothetical LOC498675 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602042 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1589653 RatNP-3b defensin RatNP-3 precursor gene DOID:9002928 Colonic Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 1589662 Marco macrophage receptor with collagenous structure gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:1558468 D RGD:41412189|PMID:15263032 20210222 RGD 1589662 Marco macrophage receptor with collagenous structure gene DOID:0080176 meningococcal meningitis IEP D RGD:41412190|PMID:21299846 20210222 RGD protein:increased expression:sub-cortical, meninges, astrocyte 1589662 Marco macrophage receptor with collagenous structure gene DOID:0080600 COVID-19 ISO RGD:1349062 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589662 Marco macrophage receptor with collagenous structure gene DOID:10325 silicosis treatment IMP D RGD:41412200|PMID:30391304 20210223 RGD 1589662 Marco macrophage receptor with collagenous structure gene DOID:12053 cryptococcosis disease_progression ISO RGD:1558468 D RGD:41412191|PMID:28298522 20210222 RGD 1589662 Marco macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:41412192|PMID:28693442 20210223 RGD DNA:SNP: :rs12998782(human) 1589662 Marco macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:41412194|PMID:27853145 20210223 RGD DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human) 1589662 Marco macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:41412195|PMID:23617307 20210223 RGD DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) 1589662 Marco macrophage receptor with collagenous structure gene DOID:630 genetic disease ISO RGD:1349062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589662 Marco macrophage receptor with collagenous structure gene DOID:684 hepatocellular carcinoma ISO RGD:1349062 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1589662 Marco macrophage receptor with collagenous structure gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:41412190|PMID:21299846 20210222 RGD protein:increased expression:meninges, astrocyte 1589662 Marco macrophage receptor with collagenous structure gene DOID:9000371 influenza A ameliorates ISO RGD:1558468 D RGD:41412197|PMID:21562316 20210223 RGD 1589662 Marco macrophage receptor with collagenous structure gene DOID:9006732 Clostridium Infections exacerbates ISO RGD:1558468 D RGD:41412193|PMID:20810988 20210223 RGD 1589662 Marco macrophage receptor with collagenous structure gene DOID:9008559 Bacterial Lung Diseases disease_progression ISO RGD:1558468 D RGD:41412191|PMID:28298522 20210222 RGD association with Cryptococcal neoformans infection. 1589662 Marco macrophage receptor with collagenous structure gene DOID:9351 diabetes mellitus ISO RGD:1558468 D RGD:41412199|PMID:27630197 20210223 RGD protein:decreased expression:Alveolar macrophage 1589685 Arl4c ADP ribosylation factor like GTPase 4C gene DOID:0080600 COVID-19 ISO RGD:1345856 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589685 Arl4c ADP ribosylation factor like GTPase 4C gene DOID:630 genetic disease ISO RGD:1345856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589717 Foxf2 forkhead box F2 gene DOID:630 genetic disease ISO RGD:1352114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589717 Foxf2 forkhead box F2 gene DOID:9007096 Stroke ISO RGD:1352114 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1589718 Foxc1 forkhead box C1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1353830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:28492532|PMID:28513611|PMID:32499604 1589718 Foxc1 forkhead box C1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1620902 D RGD:8662365|PMID:10767326 20140620 RGD 1589718 Foxc1 forkhead box C1 gene DOID:0080205 CAKUT ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988 1589718 Foxc1 forkhead box C1 gene DOID:0080608 anterior segment dysgenesis 3 ISO RGD:1353830 D RGD:7240710 20160713 OMIM 1589718 Foxc1 forkhead box C1 gene DOID:0080608 anterior segment dysgenesis 3 ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial PMID:11007653|PMID:11170889|PMID:12036988|PMID:19668217|PMID:19793056|PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988|PMID:32832252|PMID:9620769|PMID:9792859 1589718 Foxc1 forkhead box C1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1620902 D RGD:12904052|PMID:20976766 20170516 RGD 1589718 Foxc1 forkhead box C1 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1353830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 1589718 Foxc1 forkhead box C1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1353830 D RGD:7240710 20160713 OMIM 1589718 Foxc1 forkhead box C1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1353830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:10713890|PMID:11170889|PMID:11740218|PMID:11782474|PMID:12592227|PMID:12614756|PMID:14506133|PMID:14578375|PMID:15277473|PMID:16638984|PMID:16936096|PMID:17013732|PMID:17197537|PMID:17210863|PMID:18498376|PMID:19279310|PMID:19513095|PMID:19668217|PMID:19793056|PMID:20881294|PMID:22382802|PMID:22569110|PMID:23239455|PMID:24556684|PMID:24914578|PMID:25741868|PMID:25786029|PMID:25967385|PMID:28432732|PMID:28492532|PMID:28513611|PMID:28979898|PMID:30143558|PMID:30457409|PMID:30653986|PMID:31836490|PMID:32295643|PMID:32475988|PMID:32499604|PMID:32631953|PMID:35882526|PMID:9326342|PMID:9620769|PMID:9792859 1589718 Foxc1 forkhead box C1 gene DOID:1067 open-angle glaucoma ISO RGD:1353830 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 1589718 Foxc1 forkhead box C1 gene DOID:1068 juvenile glaucoma ISO RGD:1353830 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:32832252 1589718 Foxc1 forkhead box C1 gene DOID:10908 hydrocephalus ISO RGD:1620902 D RGD:8662364|PMID:9635428 20140620 RGD 1589718 Foxc1 forkhead box C1 gene DOID:11211 buphthalmos ISS RGD:1620902 D RGD:13592920 20180518 MouseDO OMIM:231300 1589718 Foxc1 forkhead box C1 gene DOID:12271 aniridia ISO RGD:1353830 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1589718 Foxc1 forkhead box C1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1353830 D RGD:12904042|PMID:15477465 20170516 RGD DNA:mutation:cds:272T>C,p.I91T(human) 1589718 Foxc1 forkhead box C1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1353830 D RGD:12904044|PMID:12614756 20170516 RGD DNA:mutation:cds:p.F112S(human) 1589718 Foxc1 forkhead box C1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1353830 D RGD:12904045|PMID:18498376 20170516 RGD DNA:mutation:cds:p.Q120X(human) 1589718 Foxc1 forkhead box C1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1353830 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss PMID:25741868|PMID:28492532|PMID:30143558|PMID:32475988 1589718 Foxc1 forkhead box C1 gene DOID:1686 glaucoma ISO RGD:1353830 D RGD:12904045|PMID:18498376 20170516 RGD associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human) 1589718 Foxc1 forkhead box C1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1353830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668217 1589718 Foxc1 forkhead box C1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1353830 D RGD:8662363|PMID:21424368 20140620 RGD 1589718 Foxc1 forkhead box C1 gene DOID:6000 congestive heart failure ISO RGD:1353830 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 1589718 Foxc1 forkhead box C1 gene DOID:630 genetic disease ISO RGD:1353830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1589718 Foxc1 forkhead box C1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 1589718 Foxc1 forkhead box C1 gene DOID:9000045 De Hauwere syndrome ISO RGD:1353830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 1589718 Foxc1 forkhead box C1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668217 1589718 Foxc1 forkhead box C1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 1589718 Foxc1 forkhead box C1 gene DOID:9003133 Hypertelorism ISO RGD:1353830 D RGD:12904051|PMID:17653043 20170516 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) 1589718 Foxc1 forkhead box C1 gene DOID:9003591 Telecanthus ISO RGD:1353830 D RGD:12904051|PMID:17653043 20170516 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) 1589718 Foxc1 forkhead box C1 gene DOID:9004538 Hearing Loss ISO RGD:1353830 D RGD:12904051|PMID:17653043 20170516 RGD associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) 1589718 Foxc1 forkhead box C1 gene DOID:9005059 Hypertelorism and Tetralogy of Fallot ISO RGD:1353830 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot PMID:25741868 1589718 Foxc1 forkhead box C1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353830 D RGD:8662367|PMID:20056007 20140620 RGD DNA, mRNA:increased methylation, decreased expression:breast 1589718 Foxc1 forkhead box C1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353830 D RGD:8662370|PMID:20338046 20140620 RGD DNA:increased methylation:promoter 1589718 Foxc1 forkhead box C1 gene DOID:987 alopecia ISO RGD:1353830 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 1589721 Gla galactosidase, alpha gene DOID:0050700 cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15776423|PMID:15806320|PMID:16232095|PMID:16533976|PMID:16595074|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17555407|PMID:17804462|PMID:18003767|PMID:18057066|PMID:18154965|PMID:18205205|PMID:18297328|PMID:18596132|PMID:18830871|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21549080|PMID:21598360|PMID:21683120|PMID:21890869|PMID:21946453|PMID:21972175|PMID:22205110|PMID:22226368|PMID:22336178|PMID:22437327|PMID:22551898|PMID:22682330|PMID:22805550|PMID:22905681|PMID:23109060|PMID:23219219|PMID:23306324|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23465405|PMID:23568732|PMID:23608164|PMID:23677059|PMID:23818648|PMID:23922385|PMID:2393552|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24784157|PMID:24829596|PMID:24980630|PMID:25040344|PMID:25078086|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26252393|PMID:26305465|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:26990548|PMID:27142856|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27657681|PMID:27832731|PMID:27916943|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28299312|PMID:28340804|PMID:2836863|PMID:28377241|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28728877|PMID:28799081|PMID:28941980|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29132836|PMID:29215092|PMID:29330335|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30246259|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30569317|PMID:30662066|PMID:30739116|PMID:30773290|PMID:31020198|PMID:31036492|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246457|PMID:32418857|PMID:32435590|PMID:32531501|PMID:33036343|PMID:33543778|PMID:6379599|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8807334|PMID:8875188|PMID:8878432|PMID:9100224|PMID:9452111 1589721 Gla galactosidase, alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344140 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589721 Gla galactosidase, alpha gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1344140 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 1589721 Gla galactosidase, alpha gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1344140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1589721 Gla galactosidase, alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:28382085|PMID:28492532|PMID:28799081|PMID:29121657|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 1589721 Gla galactosidase, alpha gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26415523|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:27916943|PMID:28253518|PMID:28382085|PMID:28492532|PMID:28728877|PMID:28799081|PMID:29121657|PMID:29794742|PMID:29867742|PMID:29982630|PMID:30804731|PMID:31613176|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32418857|PMID:33495303|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 1589721 Gla galactosidase, alpha gene DOID:1184 nephrotic syndrome ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 1589721 Gla galactosidase, alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10208848|PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15806320|PMID:16232095|PMID:16754800|PMID:16773563|PMID:17555407|PMID:18057066|PMID:18154965|PMID:18297328|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21598360|PMID:21683120|PMID:21972175|PMID:22226368|PMID:22437327|PMID:22682330|PMID:23109060|PMID:23219219|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23568732|PMID:23677059|PMID:23818648|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24582695|PMID:24829596|PMID:24980630|PMID:25078086|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27832731|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29215092|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29875425|PMID:30023289|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30662066|PMID:31020198|PMID:31613176|PMID:31996269|PMID:32042454|PMID:32109691|PMID:32246457|PMID:32435590|PMID:33543778|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8878432|PMID:9452111 1589721 Gla galactosidase, alpha gene DOID:12849 autistic disorder ISO RGD:1344140 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589721 Gla galactosidase, alpha gene DOID:14499 Fabry disease IMP D RGD:150429980|PMID:29563343 20211020 RGD 1589721 Gla galactosidase, alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18565198|PMID:19925601|PMID:22773828 1589721 Gla galactosidase, alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:1601350|PMID:2539398 20070417 RGD DNA:point mutation:exon:R356W 1589721 Gla galactosidase, alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:7240710 20130221 OMIM 1589721 Gla galactosidase, alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:10090526|PMID:10200059|PMID:10208848|PMID:10360396|PMID:10649504|PMID:10666480|PMID:10838196|PMID:10916280|PMID:11076046|PMID:11137837|PMID:11145098|PMID:11179018|PMID:11295840|PMID:11322659|PMID:11531969|PMID:11531972|PMID:11668641|PMID:11688386|PMID:11804208|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12068026|PMID:12175777|PMID:12207598|PMID:12359124|PMID:12428061|PMID:12429061|PMID:12480979|PMID:12512750|PMID:12668521|PMID:12694230|PMID:12778775|PMID:12786754|PMID:12796853|PMID:12911529|PMID:12920095|PMID:12938095|PMID:1315304|PMID:1315715|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15100373|PMID:15162124|PMID:15339079|PMID:15353880|PMID:15492942|PMID:15611419|PMID:15695328|PMID:15702403|PMID:15702404|PMID:15712228|PMID:15713906|PMID:15776423|PMID:15806320|PMID:15924232|PMID:15947062|PMID:16148726|PMID:16199547|PMID:16215932|PMID:16224739|PMID:16232095|PMID:1650161|PMID:16533976|PMID:16595074|PMID:16626582|PMID:16720462|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17057070|PMID:17206462|PMID:17224688|PMID:17437606|PMID:17452128|PMID:17532296|PMID:1753437|PMID:17555407|PMID:17576681|PMID:17656478|PMID:17713670|PMID:17804462|PMID:18003767|PMID:18023222|PMID:18046674|PMID:18057066|PMID:18154965|PMID:18154966|PMID:18205205|PMID:18287059|PMID:18297328|PMID:18387337|PMID:18424138|PMID:1846223|PMID:18472290|PMID:18555667|PMID:18596132|PMID:18633574|PMID:18698230|PMID:18724168|PMID:18830871|PMID:18849176|PMID:18974770|PMID:19265719|PMID:19285316|PMID:19287194|PMID:19320660|PMID:19373884|PMID:19387866|PMID:19621417|PMID:19763152|PMID:19823873|PMID:19941952|PMID:20022777|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20139917|PMID:20300124|PMID:20307669|PMID:20360539|PMID:20367968|PMID:20464614|PMID:20498269|PMID:20505683|PMID:20615758|PMID:20628902|PMID:20629180|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21138548|PMID:21229318|PMID:21333496|PMID:21353612|PMID:21517827|PMID:2152885|PMID:21549080|PMID:21587323|PMID:21598360|PMID:2160973|PMID:21683120|PMID:21700093|PMID:2171331|PMID:21804088|PMID:21890869|PMID:21896204|PMID:21946453|PMID:21972175|PMID:22004918|PMID:22063097|PMID:22078290|PMID:22176145|PMID:22205110|PMID:22226368|PMID:22227322|PMID:22241068|PMID:22305854|PMID:22336178|PMID:22378313|PMID:22406018|PMID:22437327|PMID:22472932|PMID:22498845|PMID:22551898|PMID:22563919|PMID:22682330|PMID:22695894|PMID:22773828|PMID:22805550|PMID:22874111|PMID:22880956|PMID:22905681|PMID:23109060|PMID:23146289|PMID:23210910|PMID:23219219|PMID:23248976|PMID:23305247|PMID:23306324|PMID:23307880|PMID:23332617|PMID:23378663|PMID:23387234|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23430848|PMID:23430946|PMID:23465405|PMID:23474038|PMID:23537685|PMID:23566439|PMID:23568732|PMID:23591357|PMID:23608164|PMID:23677059|PMID:23691425|PMID:23724928|PMID:23756194|PMID:23818648|PMID:23826564|PMID:23867994|PMID:23913314|PMID:23922385|PMID:2393552|PMID:23935525|PMID:23980562|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24094560|PMID:24236025|PMID:24334114|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24503780|PMID:24582695|PMID:24613481|PMID:24626231|PMID:24626659|PMID:24661928|PMID:24718812|PMID:24784157|PMID:24829596|PMID:24830310|PMID:24980630|PMID:25026990|PMID:25040344|PMID:25078086|PMID:25149322|PMID:25179549|PMID:25319043|PMID:25382311|PMID:25386848|PMID:2539398|PMID:25409744|PMID:25439755|PMID:25468650|PMID:25468652|PMID:25487570|PMID:25511234|PMID:25525159|PMID:25531941|PMID:25596309|PMID:25611685|PMID:25619383|PMID:25637381|PMID:25640679|PMID:25655062|PMID:25663229|PMID:25741868|PMID:25750198|PMID:25762495|PMID:25772321|PMID:25795794|PMID:25835592|PMID:25900714|PMID:25955246|PMID:25974833|PMID:25977923|PMID:26044846|PMID:26047621|PMID:26070511|PMID:26083343|PMID:26179544|PMID:26238931|PMID:26252393|PMID:26272908|PMID:26297554|PMID:26298600|PMID:26305465|PMID:26333625|PMID:26384850|PMID:26415523|PMID:26424312|PMID:26456105|PMID:26490103|PMID:26563328|PMID:26593248 1589721 Gla galactosidase, alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:26629990|PMID:26631895|PMID:26652600|PMID:26691501|PMID:26866599|PMID:26869469|PMID:26937405|PMID:26990548|PMID:27081853|PMID:27083555|PMID:27129690|PMID:27142856|PMID:27160240|PMID:27211852|PMID:27225851|PMID:27238910|PMID:27356758|PMID:27431810|PMID:2744760|PMID:27531472|PMID:27532257|PMID:27554049|PMID:27560961|PMID:27576502|PMID:27585509|PMID:27595546|PMID:27629047|PMID:27657681|PMID:27773586|PMID:27825144|PMID:27831900|PMID:27832731|PMID:27834756|PMID:27896102|PMID:27896103|PMID:27916943|PMID:27931613|PMID:27979989|PMID:27992580|PMID:28069318|PMID:28082092|PMID:28253518|PMID:28275245|PMID:28276057|PMID:28299312|PMID:28302345|PMID:28340691|PMID:28340804|PMID:28360401|PMID:2836863|PMID:28377241|PMID:28382085|PMID:28389313|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28496025|PMID:28500230|PMID:28596458|PMID:28615118|PMID:28625968|PMID:28646478|PMID:28649509|PMID:28672034|PMID:28682471|PMID:28723748|PMID:28728877|PMID:28736719|PMID:28749998|PMID:28756410|PMID:28768754|PMID:28771489|PMID:28798024|PMID:28799081|PMID:28877708|PMID:28941980|PMID:28943383|PMID:28964554|PMID:28977874|PMID:28988177|PMID:29018006|PMID:29019163|PMID:29037082|PMID:29044343|PMID:29079200|PMID:29121657|PMID:29132836|PMID:29186537|PMID:29203563|PMID:29215092|PMID:29227985|PMID:29247119|PMID:29305833|PMID:29307789|PMID:29326878|PMID:29330335|PMID:29361493|PMID:29437868|PMID:29476735|PMID:29487688|PMID:29491734|PMID:29530533|PMID:29543226|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29661900|PMID:29688992|PMID:29688998|PMID:29770213|PMID:29794742|PMID:29853467|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30038331|PMID:30064518|PMID:30093709|PMID:30103270|PMID:30201457|PMID:30246259|PMID:30261035|PMID:30380558|PMID:30385651|PMID:30386727|PMID:30474596|PMID:30477121|PMID:30497360|PMID:30568064|PMID:30569317|PMID:30571380|PMID:30594474|PMID:30644091|PMID:30658922|PMID:30662066|PMID:30677769|PMID:30715505|PMID:30739116|PMID:30762167|PMID:30773290|PMID:30804731|PMID:30834538|PMID:30853972|PMID:30972193|PMID:30985853|PMID:30988410|PMID:31010832|PMID:31020198|PMID:31036492|PMID:31065389|PMID:31200018|PMID:31213654|PMID:31243236|PMID:31291414|PMID:31319156|PMID:31321922|PMID:31372342|PMID:31392112|PMID:31446751|PMID:31449323|PMID:31519519|PMID:31566927|PMID:31613176|PMID:31620600|PMID:31634893|PMID:31649303|PMID:31650418|PMID:31654629|PMID:31664448|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32023956|PMID:32036093|PMID:32042454|PMID:32099817|PMID:32109691|PMID:32127409|PMID:32150461|PMID:32161151|PMID:32203225|PMID:32246457|PMID:32306159|PMID:32418857|PMID:32435590|PMID:32442237|PMID:32486191|PMID:32531501|PMID:32583479|PMID:32699723|PMID:32714835|PMID:32719972|PMID:32789421|PMID:32793709|PMID:32797665|PMID:32802993|PMID:32813676|PMID:32860008|PMID:32901917|PMID:32995357|PMID:33016649|PMID:33036343|PMID:33040545|PMID:33072983|PMID:33204599|PMID:33437642|PMID:33495303|PMID:33527381|PMID:33543778|PMID:33545641|PMID:33673806|PMID:33907643|PMID:34199132|PMID:34205365|PMID:34270679|PMID:34401344|PMID:34679477|PMID:34803097|PMID:34905550|PMID:36156392|PMID:6379599|PMID:7504405|PMID:7531540|PMID:7575533|PMID:7596372|PMID:7599642|PMID:7911050|PMID:7951217|PMID:8012363|PMID:8069316|PMID:8395937|PMID:8411052|PMID:8738659|PMID:8768754|PMID:8807334|PMID:8834244|PMID:8863162|PMID:8875188|PMID:8878432|PMID:8931708|PMID:8996967|PMID:9100224|PMID:9105656|PMID:9116979|PMID:9268104|PMID:9395081|PMID:9452068|PMID:9452090|PMID:9452111|PMID:9536098|PMID:9554750|PMID:9883849 1589721 Gla galactosidase, alpha gene DOID:3211 lysosomal storage disease IMP D RGD:150429980|PMID:29563343 20211020 RGD 1589721 Gla galactosidase, alpha gene DOID:479 angiokeratoma ISO RGD:1344140 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19925601 1589721 Gla galactosidase, alpha gene DOID:9000020 Fabry Disease, Cardiac Variant ISO RGD:1344140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fabry disease, cardiac variant PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11688386|PMID:11828341|PMID:12428061|PMID:1315715|PMID:15702404|PMID:16773563|PMID:17532296|PMID:17555407|PMID:1846223|PMID:19287194|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20505683|PMID:20821055|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22437327|PMID:23109060|PMID:23378663|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24980630|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26869469|PMID:27356758|PMID:27554049|PMID:27560961|PMID:27585509|PMID:27595546|PMID:27931613|PMID:28082092|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28728877|PMID:29215092|PMID:29875425|PMID:30380558|PMID:30386727|PMID:30662066|PMID:30804731|PMID:31200018|PMID:31519519|PMID:32099817|PMID:7596372|PMID:8738659|PMID:9100224|PMID:9395081|PMID:9883849 1589721 Gla galactosidase, alpha gene DOID:9000641 Pain IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type 1589721 Gla galactosidase, alpha gene DOID:9000641 Pain treatment IMP D RGD:150429980|PMID:29563343 20211020 RGD Allyl isothiocyanate (XCO:0000608) 1589721 Gla galactosidase, alpha gene DOID:9007096 Stroke ISO RGD:1344140 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26415523|PMID:27916943|PMID:28253518|PMID:28492532|PMID:28728877|PMID:29794742|PMID:33495303 1589721 Gla galactosidase, alpha gene DOID:9007820 Sudden Death ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11668641|PMID:11914245|PMID:14635108|PMID:14680977|PMID:15806320|PMID:16232095|PMID:16754800|PMID:18057066|PMID:18154965|PMID:18297328|PMID:19373884|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:21229318|PMID:21517827|PMID:22226368|PMID:23219219|PMID:23393592|PMID:23430502|PMID:24033266|PMID:24829596|PMID:25078086|PMID:25637381|PMID:25741868|PMID:26415523|PMID:27832731|PMID:28276057|PMID:28492532|PMID:28988177|PMID:29037082|PMID:29044343|PMID:29530533|PMID:29631605|PMID:32109691|PMID:32246457|PMID:33543778|PMID:7504405|PMID:9452111 1589721 Gla galactosidase, alpha gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1589722 Chic1 cysteine-rich hydrophobic domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349014 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589722 Chic1 cysteine-rich hydrophobic domain 1 gene DOID:0080600 COVID-19 ISO RGD:1349014 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589722 Chic1 cysteine-rich hydrophobic domain 1 gene DOID:10283 prostate cancer ISO RGD:1349014 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1589722 Chic1 cysteine-rich hydrophobic domain 1 gene DOID:12849 autistic disorder ISO RGD:1349014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589722 Chic1 cysteine-rich hydrophobic domain 1 gene DOID:630 genetic disease ISO RGD:1349014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1607087 D RGD:11087560|PMID:12424196 20160603 RGD associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human) 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1607087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15720958|PMID:16767100 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria PMID:10220445|PMID:8167330|PMID:8500164|PMID:8541558|PMID:8557259|PMID:9019395|PMID:9233558|PMID:9787183 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISS RGD:11100 D RGD:13592920 20190530 MouseDO OMIM:242500 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1607087 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:7240710 20140911 OMIM 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:10087994|PMID:15307104|PMID:17576681|PMID:19377476|PMID:22305531|PMID:24259184|PMID:24259288|PMID:24357517|PMID:24706016|PMID:24759409|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26545172|PMID:27353043|PMID:28133863|PMID:28441409|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29310717|PMID:29314583|PMID:29656098|PMID:31164858|PMID:31704190|PMID:32176464|PMID:32220244|PMID:32452540|PMID:33763700|PMID:34355501|PMID:34782754|PMID:8541557|PMID:8599356|PMID:8652378|PMID:9307258|PMID:9536098 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:1059 intellectual disability ISO RGD:1607087 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:12849 autistic disorder ISO RGD:1607087 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:13636 Fanconi anemia ISO RGD:1607087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:630 genetic disease ISO RGD:1607087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10087994|PMID:15307104|PMID:24357517|PMID:24706016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29314583|PMID:31164858|PMID:32176464|PMID:8541557|PMID:8652378 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:7240710 20220727 OMIM 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868|PMID:28492532|PMID:31704190|PMID:32452540|PMID:34355501 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607087 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:7240710 20220706 OMIM 1589723 Piga phosphatidylinositol glycan anchor biosynthesis, class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis PMID:24259288|PMID:34875027 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1343037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343037 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1343037 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:7240710 20140903 OMIM 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 6 PMID:23714752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33840813 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:12849 autistic disorder ISO RGD:1343037 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:630 genetic disease ISO RGD:1343037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1343037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1589724 Col4a6 collagen type IV alpha 6 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1343037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 1589725 Tspan7 tetraspanin 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352570 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589725 Tspan7 tetraspanin 7 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352570 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 1589725 Tspan7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:7240710 20130425 OMIM 1589725 Tspan7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 PMID:10655063|PMID:12376945|PMID:14735593|PMID:25741868|PMID:28492532 1589725 Tspan7 tetraspanin 7 gene DOID:1059 intellectual disability ISO RGD:1352570 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1589725 Tspan7 tetraspanin 7 gene DOID:12849 autistic disorder ISO RGD:1352570 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589725 Tspan7 tetraspanin 7 gene DOID:630 genetic disease ISO RGD:1352570 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1589725 Tspan7 tetraspanin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352570 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589725 Tspan7 tetraspanin 7 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352570 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1589737 Zdhhc5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1314627 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589737 Zdhhc5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:630 genetic disease ISO RGD:1314627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589741 Rgs16 regulator of G-protein signaling 16 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1589741 Rgs16 regulator of G-protein signaling 16 gene DOID:0080600 COVID-19 ISO RGD:1343291 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589741 Rgs16 regulator of G-protein signaling 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1343291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589741 Rgs16 regulator of G-protein signaling 16 gene DOID:630 genetic disease ISO RGD:1343291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589741 Rgs16 regulator of G-protein signaling 16 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343291 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1589741 Rgs16 regulator of G-protein signaling 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343291 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:0060041 autism spectrum disorder ISO RGD:1344086 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:10923 sickle cell anemia ISO RGD:1344086 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1344086 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:1928 Williams-Beuren syndrome ISO RGD:1344086 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344086 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:5419 schizophrenia ISO RGD:1344086 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1344086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:8445 intestinal volvulus ISO RGD:1344086 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344086 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589742 Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344086 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1589743 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:0080178 mucositis treatment IDA D RGD:13208871|PMID:25732242 20170822 RGD 1589743 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:630 genetic disease ISO RGD:1344835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589743 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11553820|PMID:25040536 20170821 RGD protein:increased expression:neuron, axon 1589743 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:11561955|PMID:23589102 20161114 RGD 1589744 Wscd2 WSC domain containing 2 gene DOID:630 genetic disease ISO RGD:1605710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589744 Wscd2 WSC domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605710 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1353845 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:585 nephrolithiasis ISO RGD:1353845 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:630 genetic disease ISO RGD:1353845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1589750 Hao1 hydroxyacid oxidase 1 gene DOID:9245 Alagille syndrome ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 1589751 Itpa inosine triphosphatase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:26224535 1589751 Itpa inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:7240710 20151209 OMIM 1589751 Itpa inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 PMID:12384777|PMID:16199547|PMID:20173735|PMID:20547162|PMID:21274861|PMID:22992668|PMID:25741868|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:28492532|PMID:30856165|PMID:32129147 1589751 Itpa inosine triphosphatase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1348154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1589751 Itpa inosine triphosphatase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26224535 1589751 Itpa inosine triphosphatase gene DOID:13714 anodontia ISO RGD:1348154 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 1589751 Itpa inosine triphosphatase gene DOID:1588 thrombocytopenia ISO RGD:1348154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 1589751 Itpa inosine triphosphatase gene DOID:1588 thrombocytopenia treatment ISO RGD:1348154 D RGD:10766473|PMID:24519039 20160208 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) 1589751 Itpa inosine triphosphatase gene DOID:1826 epilepsy ISO RGD:1348154 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 1589751 Itpa inosine triphosphatase gene DOID:1883 hepatitis C disease_progression ISO RGD:1348154 D RGD:10766473|PMID:24519039 20160208 RGD DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) 1589751 Itpa inosine triphosphatase gene DOID:2355 anemia ISO RGD:1348154 D RGD:14975306|PMID:22571903 20191007 RGD associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human) 1589751 Itpa inosine triphosphatase gene DOID:2355 anemia treatment ISO RGD:1348154 D RGD:11074414|PMID:26154744 20191007 RGD associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human) 1589751 Itpa inosine triphosphatase gene DOID:2566 corneal dystrophy ISO RGD:1348154 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Corneal dystrophy 1589751 Itpa inosine triphosphatase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1348154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1589751 Itpa inosine triphosphatase gene DOID:583 hemolytic anemia ISO RGD:1348154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20547162 1589751 Itpa inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:10766472|PMID:21274861 20160208 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) 1589751 Itpa inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:10766479|PMID:23933495 20160208 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human) 1589751 Itpa inosine triphosphatase gene DOID:630 genetic disease ISO RGD:1348154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 1589751 Itpa inosine triphosphatase gene DOID:655 inherited metabolic disorder ISO RGD:1348154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12384777|PMID:20547162 1589751 Itpa inosine triphosphatase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1348154 D RGD:14975307|PMID:29441893 20191007 RGD DNA:SNP: :94C>A(human) 1589751 Itpa inosine triphosphatase gene DOID:9002801 Recurrence ISO RGD:1348154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23029095 1589751 Itpa inosine triphosphatase gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:1348154 D RGD:10766478|PMID:18685564 20160208 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) 1589751 Itpa inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:7240710 20171011 OMIM 1589751 Itpa inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:11278832|PMID:12384777|PMID:12436200|PMID:16199547|PMID:17576681|PMID:19631656|PMID:20173735|PMID:20547162|PMID:20637204|PMID:21246582|PMID:21274861|PMID:21503919|PMID:22992668|PMID:23707372|PMID:23730840|PMID:25741868|PMID:26071337|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:26916827|PMID:27833958|PMID:28492532|PMID:30856165|PMID:32129147|PMID:33593863|PMID:9536098 1589751 Itpa inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1348154 D RGD:10766474|PMID:22009189 20160208 RGD DNA:SNP:intron 1589751 Itpa inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1348154 D RGD:10766474|PMID:22009189 20160208 RGD DNA:SNPs:exon:94C>A, 138G>A (human) 1589754 Uvrag UV radiation resistance associated gene DOID:10283 prostate cancer ISO RGD:1317170 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1589754 Uvrag UV radiation resistance associated gene DOID:1059 intellectual disability ISO RGD:1317170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589754 Uvrag UV radiation resistance associated gene DOID:630 genetic disease ISO RGD:1317170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism IAGP D RGD:1599687|PMID:15760344 20070212 RGD DNA:missense mutation:exon:p.R299H (rat) 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:11466 D RGD:8694352|PMID:8197131 20140804 RGD DNA:missense mutation:cds:p.S128I(mouse) 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2511845|PMID:9158138 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:1599686|PMID:1642278 20070212 RGD OCA1, OMIM:203100, OCA1B, OMIM:606952 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:10094567|PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:1642278|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:8694338|PMID:22294196 20140801 RGD DNA:mutations:multiple: 1589755 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism treatment ISO RGD:11466 D RGD:8694345|PMID:15250938 20140804 RGD 1589755 Tyr tyrosinase gene DOID:0050633 ocular albinism ISO RGD:1346000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:33223529|PMID:34008892|PMID:9163730 1589755 Tyr tyrosinase gene DOID:0050633 ocular albinism ISO RGD:1346000 D RGD:8694339|PMID:7704033 20140801 RGD DNA:mutations:cds:p.R402Q,p.S192Y(human) 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:11466 D RGD:8694335|PMID:19436266 20140801 RGD 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11781109 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:7240710 20130221 OMIM 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:16199547|PMID:16417222|PMID:1642278|PMID:16517127|PMID:16570240|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18701257|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:20861851|PMID:2113511|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23085273|PMID:23242301|PMID:23324268|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24461674|PMID:24721949|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25455140|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30311386|PMID:30472657|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31229681|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:8477259|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8694334|PMID:22088535 20140801 RGD DNA:missense mutation:exon: p.I151S(human) 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8694337|PMID:20447099 20140801 RGD DNA:mutations:multiple: 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8694340|PMID:8996965 20140801 RGD DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human) 1589755 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA treatment ISO RGD:1346000 D RGD:8694335|PMID:19436266 20140801 RGD 1589755 Tyr tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:7240710 20130221 OMIM 1589755 Tyr tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15937636|PMID:16098056|PMID:16199547|PMID:16417222|PMID:1642278|PMID:1676041|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:2113511|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 1589755 Tyr tyrosinase gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28492532|PMID:28667292|PMID:28976636|PMID:30311386|PMID:31077556|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7704033|PMID:7955413|PMID:9242509 1589755 Tyr tyrosinase gene DOID:1059 intellectual disability ISO RGD:1346000 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589755 Tyr tyrosinase gene DOID:11211 buphthalmos ISS RGD:11466 D RGD:13592920 20180518 MouseDO OMIM:231300 1589755 Tyr tyrosinase gene DOID:11830 myopia ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 1589755 Tyr tyrosinase gene DOID:12306 vitiligo ISO RGD:1346000 D RGD:8694387|PMID:22834951 20140804 RGD 1589755 Tyr tyrosinase gene DOID:12306 vitiligo severity ISO RGD:1346000 D RGD:8694409|PMID:8697641 20140805 RGD 1589755 Tyr tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 1589755 Tyr tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 1589755 Tyr tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:19578364|PMID:21559390|PMID:26640592 1589755 Tyr tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:8694387|PMID:22834951 20140804 RGD 1589755 Tyr tyrosinase gene DOID:1909 melanoma disease_progression ISO RGD:1346000 D RGD:8694384|PMID:8609659 20140804 RGD 1589755 Tyr tyrosinase gene DOID:2513 basal cell carcinoma ISO RGD:1346000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 1589755 Tyr tyrosinase gene DOID:2615 papilloma treatment ISO RGD:11466 D RGD:8694346|PMID:15007389 20140804 RGD 1589755 Tyr tyrosinase gene DOID:630 genetic disease ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10987646|PMID:11284711|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:16417222|PMID:1642278|PMID:1676041|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20861488|PMID:21906913|PMID:21985232|PMID:22294196|PMID:22734612|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7849740|PMID:8128955|PMID:8434585|PMID:9242509 1589755 Tyr tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 1589755 Tyr tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 1589755 Tyr tyrosinase gene DOID:8465 retinoschisis treatment ISO RGD:1346000 D RGD:8694343|PMID:20876567 20140804 RGD 1589755 Tyr tyrosinase gene DOID:8923 skin melanoma susceptibility ISO RGD:1346000 D RGD:8694390|PMID:21906913 20140804 RGD DNA:missense mutation:cds:p.R402Q(human) 1589755 Tyr tyrosinase gene DOID:9000307 Presbycusis onset ISO RGD:11466 D RGD:8694327|PMID:19141317 20140731 RGD 1589755 Tyr tyrosinase gene DOID:9000307 Presbycusis treatment ISO RGD:11466 D RGD:8694324|PMID:19843244 20140731 RGD associated with Albinism; 1589755 Tyr tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:7240710 20221207 OMIM 1589755 Tyr tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 PMID:10766867|PMID:10823941|PMID:11284711|PMID:11295837|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:1642278|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:21906913|PMID:22294196|PMID:22734612|PMID:23085273|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:33223529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 1589755 Tyr tyrosinase gene DOID:9000965 Neoplasm Metastasis no_association ISO RGD:1346000 D RGD:8694395|PMID:11092039 20140804 RGD associated with melanoma; 1589755 Tyr tyrosinase gene DOID:9001044 Choroidal Neovascularization ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Choroidal neovascularization PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 1589755 Tyr tyrosinase gene DOID:9001386 Albinism IMP D RGD:12792973|PMID:23409244 20170410 RGD 1589755 Tyr tyrosinase gene DOID:9001386 Albinism ISO RGD:11466 D RGD:8694353|PMID:2567165 20140804 RGD DNA:missense mutation:cds:p.H420R(mouse) 1589755 Tyr tyrosinase gene DOID:9001386 Albinism ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:10766867|PMID:10987646|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16517127|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30472657|PMID:31077556|PMID:33223529|PMID:34008892|PMID:35803923|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8434585|PMID:9158138|PMID:9163730 1589755 Tyr tyrosinase gene DOID:9001386 Albinism treatment ISO RGD:11466 D RGD:8694355|PMID:2112453 20140804 RGD 1589755 Tyr tyrosinase gene DOID:9001923 Foveal Hypoplasia ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:10766867|PMID:11295837|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 1589755 Tyr tyrosinase gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:1346000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 1589755 Tyr tyrosinase gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10987646|PMID:11284711|PMID:11829136|PMID:13680365|PMID:1429711|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:1642278|PMID:16907708|PMID:18326704|PMID:18463683|PMID:1899321|PMID:1903591|PMID:19060277|PMID:1943686|PMID:19626598|PMID:19865097|PMID:20806075|PMID:20861488|PMID:20861851|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27734839|PMID:27775880|PMID:27829221|PMID:28112372|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:29345414|PMID:31077556|PMID:31199599|PMID:32115698|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:7902671|PMID:8026428|PMID:8128955|PMID:9163730|PMID:9242509 1589755 Tyr tyrosinase gene DOID:9004464 Skin Neoplasms ISO RGD:1346000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 1589755 Tyr tyrosinase gene DOID:9004538 Hearing Loss ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:9242509 1589755 Tyr tyrosinase gene DOID:9005389 Oculocutaneous Albinism Type I, Temperature-Sensitive ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18488027|PMID:18488028|PMID:18925668|PMID:1900307|PMID:1900309|PMID:19208379|PMID:1943686|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:2567165|PMID:25741868|PMID:28492532|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 1589755 Tyr tyrosinase gene DOID:9008296 Eye Abnormalities ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16098056|PMID:25216246|PMID:28041643|PMID:28266639|PMID:28492532|PMID:31077556|PMID:33800529|PMID:8026428 1589755 Tyr tyrosinase gene DOID:9650 pathologic nystagmus ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 1589758 F5 coagulation factor V gene DOID:0050424 familial adenomatous polyposis ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 1589758 F5 coagulation factor V gene DOID:0050860 colorectal adenoma ISO RGD:1344593 D RGD:40907058|PMID:30971492 20210112 RGD protein:increased expression:serum 1589758 F5 coagulation factor V gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1344593 D RGD:7394764|PMID:15043529 20131104 RGD DNA:missense mutation:cds:p.R506Q (1691G>A) (human) 1589758 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:10557 D RGD:11564340|PMID:11110695 20161116 RGD 1589758 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9164807|PMID:11132655 1589758 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:6893627|PMID:16549134 20120912 RGD associated with kidney failure, chronic;DNA:mutation: :1691G>A(human) 1589758 F5 coagulation factor V gene DOID:0080600 COVID-19 ISO RGD:1344593 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589758 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:11950065|PMID:12070000|PMID:12421138|PMID:12816860|PMID:14617013|PMID:14695241|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16246256|PMID:16493002|PMID:16931580|PMID:19486170|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9454742|PMID:9459326|PMID:9518910|PMID:9734642|PMID:9746807 1589758 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 1589758 F5 coagulation factor V gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:11950065|PMID:12816860|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 1589758 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss ISO RGD:1344593 D RGD:7387260|PMID:16015153 20131024 RGD DNA:mutation 1589758 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss ISO RGD:1344593 D RGD:7387261|PMID:17334320 20131024 RGD DNA:transition: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1344593 D RGD:7387240|PMID:16572609 20131024 RGD DNA:SNP: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:10283 prostate cancer ISO RGD:1344593 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1589758 F5 coagulation factor V gene DOID:10487 Hirschsprung's disease ISO RGD:1344593 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1589758 F5 coagulation factor V gene DOID:10591 pre-eclampsia severity ISO RGD:1344593 D RGD:6893628|PMID:16246971 20120912 RGD DNA:mutation: :1691G>A(human) 1589758 F5 coagulation factor V gene DOID:10762 portal hypertension IEP D RGD:14700665|PMID:2777210 20190809 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) 1589758 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:11950065|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 1589758 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome disease_progression ISO RGD:1344593 D RGD:11537993|PMID:26238013 20191120 RGD DNA:missense mutation:cds:R506Q (human) 1589758 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO D RGD:14700660|PMID:29771426 20190809 RGD 1589758 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:14700661|PMID:16825912 20191120 RGD associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human) 1589758 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:1344593 D RGD:15036813|PMID:9245936 20191120 RGD DNA:missense mutation:cds:R506Q (human) 1589758 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 1589758 F5 coagulation factor V gene DOID:1247 blood coagulation disease ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 1589758 F5 coagulation factor V gene DOID:13241 Behcet's disease no_association ISO RGD:1344593 D RGD:7394769|PMID:15077257 20131104 RGD DNA:mutation: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:1540 parathyroid carcinoma ISO RGD:1344593 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589758 F5 coagulation factor V gene DOID:1612 breast cancer ISO RGD:1344593 D RGD:10449101|PMID:25407022 20151217 RGD DNA:SNPs: :multiple 1589758 F5 coagulation factor V gene DOID:1612 breast cancer no_association ISO RGD:1344593 D RGD:10449101|PMID:25407022 20151217 RGD DNA:SNPs: :rs6025 (human) 1589758 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12022286 1589758 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:7394767|PMID:10511031 20131104 RGD associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human) 1589758 F5 coagulation factor V gene DOID:1727 retinal vein occlusion no_association ISO RGD:1344593 D RGD:7394773|PMID:10634550 20131104 RGD DNA:SNP:cds:1691G>A (human) 1589758 F5 coagulation factor V gene DOID:1727 retinal vein occlusion onset ISO RGD:1344593 D RGD:7394778|PMID:16113792 20131104 RGD DNA:missense mutation:cds:1691G>A (human) 1589758 F5 coagulation factor V gene DOID:2213 hemorrhagic disease ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 1589758 F5 coagulation factor V gene DOID:2216 factor V deficiency ISO RGD:1344593 D RGD:11564334|PMID:11564077 20161116 RGD DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human) 1589758 F5 coagulation factor V gene DOID:2216 factor V deficiency ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: PARAHEMOPHILIA PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:10942390|PMID:11018168|PMID:11110695|PMID:11418372|PMID:11435304|PMID:11564077|PMID:11686338|PMID:11781258|PMID:11950065|PMID:12070000|PMID:12393490|PMID:12421138|PMID:12816860|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16246256|PMID:16476093|PMID:16493002|PMID:16931580|PMID:19486170|PMID:19652888|PMID:19900106|PMID:20051284|PMID:20735394|PMID:21116184|PMID:21774968|PMID:22044617|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:31064749|PMID:31268865|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9488630|PMID:9518910|PMID:9694743|PMID:9734642|PMID:9746807 1589758 F5 coagulation factor V gene DOID:2216 factor V deficiency susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 1589758 F5 coagulation factor V gene DOID:2237 hepatitis severity IEP D RGD:14700682|PMID:15340576 20190812 RGD protein:decreased expression:plasma (human) 1589758 F5 coagulation factor V gene DOID:2237 hepatitis treatment ISO D RGD:14700657|PMID:1903342 20190808 RGD 1589758 F5 coagulation factor V gene DOID:2316 brain ischemia ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 1589758 F5 coagulation factor V gene DOID:2920 membranoproliferative glomerulonephritis IMP D RGD:1601118|PMID:15172885 20131104 RGD 1589758 F5 coagulation factor V gene DOID:3526 cerebral infarction ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 1589758 F5 coagulation factor V gene DOID:3526 cerebral infarction susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 1589758 F5 coagulation factor V gene DOID:3576 sagittal sinus thrombosis ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 1589758 F5 coagulation factor V gene DOID:3770 pulmonary fibrosis severity ISO RGD:10557 D RGD:11564339|PMID:11307811 20161116 RGD 1589758 F5 coagulation factor V gene DOID:5082 liver cirrhosis ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18485088 1589758 F5 coagulation factor V gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1344593 D RGD:14700663|PMID:10520855 20191120 RGD 1589758 F5 coagulation factor V gene DOID:5082 liver cirrhosis susceptibility ISO D RGD:14700659|PMID:26226452 20190809 RGD 1589758 F5 coagulation factor V gene DOID:5844 myocardial infarction ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9531249 1589758 F5 coagulation factor V gene DOID:5844 myocardial infarction no_association ISO RGD:1344593 D RGD:11564337|PMID:10590188 20161116 RGD DNA:mutation:cds:1691G>A (human) 1589758 F5 coagulation factor V gene DOID:5844 myocardial infarction susceptibility ISO RGD:1344593 D RGD:11564335|PMID:15131548 20161116 RGD DNA:mutation:cds:1691G>A (human) 1589758 F5 coagulation factor V gene DOID:630 genetic disease ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 1589758 F5 coagulation factor V gene DOID:6432 pulmonary hypertension ISO RGD:1344593 D RGD:4892669|PMID:20182352 20110301 RGD Chronic thromboembolic pulmonary hypertension (CTEPH) 1589758 F5 coagulation factor V gene DOID:783 end stage renal disease ISO RGD:1344593 D RGD:6893522|PMID:19520684 20120911 RGD DNA:mutation: :1691G>A(human) 1589758 F5 coagulation factor V gene DOID:8483 retinal artery occlusion no_association ISO RGD:1344593 D RGD:1580362|PMID:12928685 20070406 RGD 1589758 F5 coagulation factor V gene DOID:869 cholesteatoma ISO RGD:1344593 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 1589758 F5 coagulation factor V gene DOID:9000590 Dyspnea ISO RGD:1344593 D RGD:4892656|PMID:16186475 20110228 RGD 1589758 F5 coagulation factor V gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:7394781|PMID:17431769 20131104 RGD 1589758 F5 coagulation factor V gene DOID:9001722 Dysarthria ISO RGD:1344593 D RGD:1580361|PMID:15026880 20070125 RGD 1589758 F5 coagulation factor V gene DOID:9001916 Fetal Death no_association ISO RGD:1344593 D RGD:1580130|PMID:14706682 20070125 RGD 1589758 F5 coagulation factor V gene DOID:9002488 Peritoneal Fibrosis IEP D RGD:7394780|PMID:19458308 20131104 RGD 1589758 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms IEP D RGD:10449102|PMID:25200834 20151217 RGD protein:increased expression:serum 1589758 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 1589758 F5 coagulation factor V gene DOID:9003049 Femur Head Necrosis ISO RGD:1344593 D RGD:6902907|PMID:16968732 20120921 RGD associated with kidney transplantation;1691G>A(human) 1589758 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14693181|PMID:20554945 1589758 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:1580340|PMID:11471205 20070125 RGD 1589758 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:6893596|PMID:21955693 20120911 RGD associated with coronary artery disease; DNA:mutation: : 1589758 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749|PMID:34355501 1589758 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:10449100|PMID:25665832 20151216 RGD DNA:mutation: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7500743|PMID:9149031 1589758 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1344593 D RGD:11536892|PMID:26245493 20170726 RGD DNA:SNP: :rs6025(human) 1589758 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12296757|PMID:12827938|PMID:12865888|PMID:15033664|PMID:16875063 1589758 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:6893601|PMID:9293873 20120912 RGD DNA:missense mutation:cds:p.R506Q (human) 1589758 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:6893602|PMID:22707612 20120912 RGD associated with lupus erythematosus, systemic; DNA:polymorphism:cds:rs6025(human) 1589758 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:7394762|PMID:8948311 20131104 RGD associated with Behcet Syndrome;DNA:SNP: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:7394779|PMID:9836759 20131104 RGD DNA:mutation: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:19486170|PMID:25741868|PMID:31064749 1589758 F5 coagulation factor V gene DOID:9004082 Mesenteric Ischemia ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 1589758 F5 coagulation factor V gene DOID:9004484 Sepsis severity ISO RGD:1344593 D RGD:4892622|PMID:16235188 20110225 RGD 1589758 F5 coagulation factor V gene DOID:9004484 Sepsis treatment IMP D RGD:1598921|PMID:12000738 20160121 RGD 1589758 F5 coagulation factor V gene DOID:9004590 Acute Liver Failure severity ISO D RGD:14700653|PMID:1740285 20190808 RGD protein:altered expression (human) 1589758 F5 coagulation factor V gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9136971 1589758 F5 coagulation factor V gene DOID:9005930 Endotoxemia IEP D RGD:7394782|PMID:11092686 20131104 RGD 1589758 F5 coagulation factor V gene DOID:9007096 Stroke ISO RGD:1344593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 1589758 F5 coagulation factor V gene DOID:9007096 Stroke ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 1589758 F5 coagulation factor V gene DOID:9007102 Myocardial Ischemia ISO RGD:1344593 D RGD:4892673|PMID:19524925 20110301 RGD DNA:mutation, haplotype: :1691G>A (human) 1589758 F5 coagulation factor V gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:10557 D RGD:11564333|PMID:25690763 20161116 RGD 1589758 F5 coagulation factor V gene DOID:9007479 Habitual Abortions ISO RGD:1344593 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15534175|PMID:15638861|PMID:16493002|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 1589758 F5 coagulation factor V gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1344593 D RGD:7240710 20230517 OMIM 1589758 F5 coagulation factor V gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1344593 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 1589758 F5 coagulation factor V gene DOID:9008217 Hemorrhage ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:28492532|PMID:34355501 1589758 F5 coagulation factor V gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344593 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589758 F5 coagulation factor V gene DOID:9477 pulmonary embolism ISO RGD:1344593 D RGD:4892657|PMID:14996674 20110228 RGD 1589758 F5 coagulation factor V gene DOID:999 hypereosinophilic syndrome ISO RGD:1344593 D RGD:1580361|PMID:15026880 20070125 RGD 1589760 Zcchc13 zinc finger CCHC-type containing 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346047 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589760 Zcchc13 zinc finger CCHC-type containing 13 gene DOID:12849 autistic disorder ISO RGD:1346047 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589760 Zcchc13 zinc finger CCHC-type containing 13 gene DOID:630 genetic disease ISO RGD:1346047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589764 Tbx22 T-box transcription factor 22 gene DOID:0060613 X-linked cleft palate with or without ankyloglossia ISO RGD:1343120 D RGD:7240710 20130221 OMIM 1589764 Tbx22 T-box transcription factor 22 gene DOID:0060613 X-linked cleft palate with or without ankyloglossia ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked PMID:14729838|PMID:16247549|PMID:17868388|PMID:22784330|PMID:25741868|PMID:28492532|PMID:839509 1589764 Tbx22 T-box transcription factor 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343120 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1589764 Tbx22 T-box transcription factor 22 gene DOID:0111826 Abruzzo-Erickson syndrome ISO RGD:1343120 D RGD:7240710 20141015 OMIM 1589764 Tbx22 T-box transcription factor 22 gene DOID:0111826 Abruzzo-Erickson syndrome ISO RGD:1343120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abruzzo-Erickson syndrome PMID:22784330|PMID:25741868|PMID:839509 1589764 Tbx22 T-box transcription factor 22 gene DOID:12849 autistic disorder ISO RGD:1343120 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589764 Tbx22 T-box transcription factor 22 gene DOID:630 genetic disease ISO RGD:1343120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589764 Tbx22 T-box transcription factor 22 gene DOID:674 cleft palate ISO RGD:1343120 D RGD:724722|PMID:12374769 20070131 RGD cleft palate with ankyloglossia, OMIM:303400 1589764 Tbx22 T-box transcription factor 22 gene DOID:674 cleft palate ISO RGD:1343120 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 1589764 Tbx22 T-box transcription factor 22 gene DOID:9000786 Cleft Palate with Ankyloglossia ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate with ankyloglossia PMID:11559848|PMID:12374769|PMID:14729838|PMID:22784330|PMID:2563678 1589771 Mcu mitochondrial calcium uniporter gene DOID:630 genetic disease ISO RGD:1343502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589772 Sh3rf3 SH3 domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1344960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589772 Sh3rf3 SH3 domain containing ring finger 3 gene DOID:670 amphetamine abuse ISO RGD:1344960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1589773 Ppa1 inorganic pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1352864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589775 Zdhhc1 zinc finger, DHHC-type containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1589775 Zdhhc1 zinc finger, DHHC-type containing 1 gene DOID:630 genetic disease ISO RGD:1348828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589776 Fhod1 formin homology 2 domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1589776 Fhod1 formin homology 2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589777 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 1589777 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:7240710 20200226 OMIM 1589777 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:31735292|PMID:31735294 1589777 Ttc29 tetratricopeptide repeat domain 29 gene DOID:630 genetic disease ISO RGD:1605320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589779 Tatdn3 TatD DNase domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604534 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589779 Tatdn3 TatD DNase domain containing 3 gene DOID:630 genetic disease ISO RGD:1604534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589779 Tatdn3 TatD DNase domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604534 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589783 Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 1589783 Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 gene DOID:1059 intellectual disability ISO RGD:1605594 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589783 Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1605594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589784 Vps35 VPS35 retromer complex component gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350372 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 1589784 Vps35 VPS35 retromer complex component gene DOID:0060892 late onset Parkinson's disease ISO RGD:1350372 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 1589784 Vps35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:7240710 20140911 OMIM 1589784 Vps35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:17576681|PMID:18342564|PMID:21763482|PMID:21763483|PMID:22517097|PMID:22801713|PMID:22991136|PMID:23125461|PMID:23408866|PMID:25288323|PMID:25533483|PMID:25741868|PMID:26251041|PMID:26321632|PMID:27385586|PMID:28166811|PMID:28492532|PMID:28796472|PMID:28862745|PMID:9536098 1589784 Vps35 VPS35 retromer complex component gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1350372 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:25741868 1589784 Vps35 VPS35 retromer complex component gene DOID:0111041 glycogen storage disease IXb ISO RGD:1350372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 1589784 Vps35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:10450518|PMID:26223426 20160115 RGD 1589784 Vps35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:10450521|PMID:25639775 20160115 RGD 1589784 Vps35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:10450845|PMID:25701813 20160122 RGD 1589784 Vps35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25149416 1589784 Vps35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 1589784 Vps35 VPS35 retromer complex component gene DOID:5419 schizophrenia ISO RGD:1350372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 1589784 Vps35 VPS35 retromer complex component gene DOID:630 genetic disease ISO RGD:1350372 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:25741868|PMID:28492532 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1347471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:3454 brain infarction ISO RGD:1347471 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18974869 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:630 genetic disease ISO RGD:1347471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1347471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:9004581 Pediatric Obesity ISO RGD:1347471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:9006646 Metabolic Syndrome ISO RGD:1347471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:9007692 Insulin Resistance ISO RGD:1347471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 1589785 Gpr17 G protein-coupled receptor 17 gene DOID:9970 obesity ISO RGD:1347471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 1589798 Gys1 glycogen synthase 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1320086 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 1589798 Gys1 glycogen synthase 1 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 1589798 Gys1 glycogen synthase 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1320086 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 1589798 Gys1 glycogen synthase 1 gene DOID:1287 cardiovascular system disease severity ISO RGD:1320086 D RGD:2313172|PMID:17356695 20090911 RGD 1589798 Gys1 glycogen synthase 1 gene DOID:630 genetic disease ISO RGD:1320086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1589798 Gys1 glycogen synthase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1320086 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 1589798 Gys1 glycogen synthase 1 gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1320086 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 1589798 Gys1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:7240710 20130221 OMIM 1589798 Gys1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD 0b | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:10102713|PMID:16199547|PMID:17182944|PMID:17576681|PMID:17928598|PMID:18414213|PMID:19699667|PMID:21958591|PMID:25741868|PMID:28492532|PMID:34906502|PMID:9267990|PMID:9389424|PMID:9536098 1589798 Gys1 glycogen synthase 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320086 D RGD:2313176|PMID:9267990 20090911 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) 1589807 Cnn2 calponin 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1350375 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1589807 Cnn2 calponin 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1350375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1589807 Cnn2 calponin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 1589807 Cnn2 calponin 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1350375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1589807 Cnn2 calponin 2 gene DOID:630 genetic disease ISO RGD:1350375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589807 Cnn2 calponin 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:1350375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 1589817 Polr2e RNA polymerase II, I and III subunit E gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313437 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1589817 Polr2e RNA polymerase II, I and III subunit E gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 1589817 Polr2e RNA polymerase II, I and III subunit E gene DOID:5339 cyclic hematopoiesis ISO RGD:1313437 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1589817 Polr2e RNA polymerase II, I and III subunit E gene DOID:630 genetic disease ISO RGD:1313437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589817 Polr2e RNA polymerase II, I and III subunit E gene DOID:9007661 Dwarfism ISO RGD:1313437 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1589818 Ccdc85c coiled-coil domain containing 85C gene DOID:10908 hydrocephalus IMP D RGD:150520163|PMID:31341137 20211028 RGD 1589818 Ccdc85c coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISS RGD:1613682 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1589818 Ccdc85c coiled-coil domain containing 85C gene DOID:630 genetic disease ISO RGD:1344482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589818 Ccdc85c coiled-coil domain containing 85C gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1344482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868 1589822 Cog2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:7240710 20190315 OMIM 1589822 Cog2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:17576681|PMID:24784932|PMID:25741868|PMID:28492532|PMID:32293671|PMID:9536098 1589822 Cog2 component of oligomeric golgi complex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312615 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589822 Cog2 component of oligomeric golgi complex 2 gene DOID:630 genetic disease ISO RGD:1312615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589822 Cog2 component of oligomeric golgi complex 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1312615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 1589822 Cog2 component of oligomeric golgi complex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312615 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589827 Pirb paired Ig-like receptor B gene DOID:630 genetic disease ISO RGD:1316283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589829 Rdh8 retinol dehydrogenase 8 gene DOID:12849 autistic disorder ISO RGD:1319361 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589829 Rdh8 retinol dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1319361 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589836 Dera deoxyribose-phosphate aldolase gene DOID:0080600 COVID-19 ISO RGD:1352250 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1589836 Dera deoxyribose-phosphate aldolase gene DOID:630 genetic disease ISO RGD:1352250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589860 Nrg4 neuregulin 4 gene DOID:2717 Bloom syndrome ISO RGD:1606150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1589860 Nrg4 neuregulin 4 gene DOID:5419 schizophrenia ISO RGD:1606150 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1589860 Nrg4 neuregulin 4 gene DOID:630 genetic disease ISO RGD:1606150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589860 Nrg4 neuregulin 4 gene DOID:9256 colorectal cancer ISO RGD:1606150 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1589861 Tmem215 transmembrane protein 215 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1589861 Tmem215 transmembrane protein 215 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1589861 Tmem215 transmembrane protein 215 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1589861 Tmem215 transmembrane protein 215 gene DOID:630 genetic disease ISO RGD:1601903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589861 Tmem215 transmembrane protein 215 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1589861 Tmem215 transmembrane protein 215 gene DOID:9870 galactosemia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1589864 Muc15 mucin 15, cell surface associated gene DOID:1059 intellectual disability ISO RGD:1351658 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589864 Muc15 mucin 15, cell surface associated gene DOID:543 dystonia ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:28492532|PMID:9536098 1589864 Muc15 mucin 15, cell surface associated gene DOID:630 genetic disease ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589866 Fam124b family with sequence similarity 124 member B gene DOID:630 genetic disease ISO RGD:1602681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589866 Fam124b family with sequence similarity 124 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602681 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1589867 Spen spen family transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1350979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1589867 Spen spen family transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1589867 Spen spen family transcriptional repressor gene DOID:2661 myoepithelioma ISO RGD:1350979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1589867 Spen spen family transcriptional repressor gene DOID:3007 breast ductal carcinoma ISO RGD:1350979 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1589867 Spen spen family transcriptional repressor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350979 D RGD:151347445|PMID:33363385 20220125 RGD associated with Neoplasm Metastasis; DNA:mutations 1589867 Spen spen family transcriptional repressor gene DOID:630 genetic disease ISO RGD:1350979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191890|PMID:33004838|PMID:33596411 1589867 Spen spen family transcriptional repressor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350979 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1589867 Spen spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:7240710 20210623 OMIM 1589867 Spen spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:33596411 1589867 Spen spen family transcriptional repressor gene DOID:9008582 Developmental Disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1589867 Spen spen family transcriptional repressor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350979 D RGD:151347437|PMID:32641685 20220124 RGD protein:increased expression:mucosa of nasopharynx (human) 1589867 Spen spen family transcriptional repressor gene DOID:936 brain disease ISO RGD:1350979 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:33596411 1589883 Prdm13 PR/SET domain 13 gene DOID:630 genetic disease ISO RGD:1322406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1589883 Prdm13 PR/SET domain 13 gene DOID:8501 fundus dystrophy ISO RGD:1322406 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1589883 Prdm13 PR/SET domain 13 gene DOID:9001226 Retinal Macular Dystrophy 1, North Carolina Type ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy PMID:10617775|PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:28790370|PMID:31043363|PMID:31814698|PMID:32476814|PMID:9238090|PMID:9801042|PMID:9924305 1589883 Prdm13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:7240710 20220629 OMIM 1589883 Prdm13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 PMID:35390279 1589883 Prdm13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:7240710 20220316 OMIM 1589883 Prdm13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism PMID:34730112 1589890 Atg2a autophagy related 2A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1589890 Atg2a autophagy related 2A gene DOID:1059 intellectual disability ISO RGD:1604391 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589890 Atg2a autophagy related 2A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1589890 Atg2a autophagy related 2A gene DOID:2746 glycogen storage disease V ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1589890 Atg2a autophagy related 2A gene DOID:3070 high grade glioma ISO RGD:1604391 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1589890 Atg2a autophagy related 2A gene DOID:5426 primary ovarian insufficiency ISO RGD:1604391 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1589890 Atg2a autophagy related 2A gene DOID:630 genetic disease ISO RGD:1604391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589922 Aunip aurora kinase A and ninein interacting protein gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601974 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 1589922 Aunip aurora kinase A and ninein interacting protein gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 1589922 Aunip aurora kinase A and ninein interacting protein gene DOID:630 genetic disease ISO RGD:1601974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589941 Pdcd2l programmed cell death 2-like gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1589941 Pdcd2l programmed cell death 2-like gene DOID:630 genetic disease ISO RGD:1601844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:1059 intellectual disability ISO RGD:1604185 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:1909 melanoma ISO RGD:1604185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:2746 glycogen storage disease V ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:3070 high grade glioma ISO RGD:1604185 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:630 genetic disease ISO RGD:1604185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1589953 Slc25a45 solute carrier family 25, member 45 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1589955 Psmg4 proteasome assembly chaperone 4 gene DOID:630 genetic disease ISO RGD:1347146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589957 Lsmem2 leucine-rich single-pass membrane protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 1589957 Lsmem2 leucine-rich single-pass membrane protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 1589957 Lsmem2 leucine-rich single-pass membrane protein 2 gene DOID:630 genetic disease ISO RGD:1602071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589957 Lsmem2 leucine-rich single-pass membrane protein 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602071 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1589957 Lsmem2 leucine-rich single-pass membrane protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1589959 Nrip2 nuclear receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1350542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589959 Nrip2 nuclear receptor interacting protein 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350542 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1589960 Cimip1 ciliary microtubule inner protein 1 gene DOID:630 genetic disease ISO RGD:1342910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589962 Apcdd1 APC down-regulated 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1351282 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1589962 Apcdd1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20393562 1589962 Apcdd1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:7240710 20130221 OMIM 1589962 Apcdd1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:8554872 20140812 ClinVar ClinVar Annotator: match by term: Hypotrichosis 1 PMID:10878665|PMID:20393562|PMID:22512811 1589962 Apcdd1 APC down-regulated 1 gene DOID:1059 intellectual disability ISO RGD:1351282 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1589962 Apcdd1 APC down-regulated 1 gene DOID:543 dystonia ISO RGD:1351282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 1589962 Apcdd1 APC down-regulated 1 gene DOID:630 genetic disease ISO RGD:1351282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589962 Apcdd1 APC down-regulated 1 gene DOID:9970 obesity ISO RGD:1351282 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 1589965 Mtmr11 myotubularin related protein 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1589965 Mtmr11 myotubularin related protein 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1589965 Mtmr11 myotubularin related protein 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1589965 Mtmr11 myotubularin related protein 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1605703 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1589965 Mtmr11 myotubularin related protein 11 gene DOID:5812 MHC class II deficiency ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1589965 Mtmr11 myotubularin related protein 11 gene DOID:630 genetic disease ISO RGD:1605703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589965 Mtmr11 myotubularin related protein 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605703 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1589974 Stath statherin gene DOID:12849 autistic disorder ISO RGD:1352585 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:19367726 1589974 Stath statherin gene DOID:630 genetic disease ISO RGD:1352585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589974 Stath statherin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1589984 Mab21l1 mab-21 like 1 gene DOID:12849 autistic disorder ISO RGD:1343203 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1589984 Mab21l1 mab-21 like 1 gene DOID:630 genetic disease ISO RGD:1343203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589984 Mab21l1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:7240710 20190911 OMIM 1589984 Mab21l1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 1589985 Gpn1 GPN-loop GTPase 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1589985 Gpn1 GPN-loop GTPase 1 gene DOID:630 genetic disease ISO RGD:1319547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1589985 Gpn1 GPN-loop GTPase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319547 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 1590039 Ptchd3 patched domain containing 3 gene DOID:630 genetic disease ISO RGD:1603484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590044 Znf750 zinc finger protein 750 gene DOID:630 genetic disease ISO RGD:1602862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590044 Znf750 zinc finger protein 750 gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1602862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:25741868 1590044 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:7240710 20130731 OMIM 1590044 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 1590047 Ccdc57 coiled-coil domain containing 57 gene DOID:630 genetic disease ISO RGD:1605253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590051 Cbr2 carbonyl reductase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1618441 D RGD:11554173 20221011 CTD CTD Direct Evidence: marker/mechanism PMID:18597497 1590052 Rac3 Rac family small GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1344542 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30293988 1590052 Rac3 Rac family small GTPase 3 gene DOID:630 genetic disease ISO RGD:1344542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590052 Rac3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:7240710 20191016 OMIM 1590052 Rac3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies PMID:25741868|PMID:29276006|PMID:30293988|PMID:35851598 1590052 Rac3 Rac family small GTPase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1344542 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 1590053 Lrrc45 leucine rich repeat containing 45 gene DOID:630 genetic disease ISO RGD:1604206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590059 Arl16 ADP-ribosylation factor like GTPase 16 gene DOID:630 genetic disease ISO RGD:1601700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590059 Arl16 ADP-ribosylation factor like GTPase 16 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601700 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1590060 Oxld1 oxidoreductase-like domain containing 1 gene DOID:630 genetic disease ISO RGD:2290031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590062 Tspan10 tetraspanin 10 gene DOID:630 genetic disease ISO RGD:1602455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590072 LOC687097 similar to Olfactory receptor 5B2 (OST073) (Olfactory receptor OR11-240) gene DOID:1059 intellectual disability ISO RGD:1347466 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1590072 LOC687097 similar to Olfactory receptor 5B2 (OST073) (Olfactory receptor OR11-240) gene DOID:630 genetic disease ISO RGD:1347466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601827 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:0110994 Joubert syndrome 25 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:0111934 immunodeficiency 38 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:0111935 immunodeficiency 16 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:630 genetic disease ISO RGD:1601827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601827 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590079 Tprg1l tumor protein p63 regulated 1-like gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1590098 Etnppl ethanolamine-phosphate phospho-lyase gene DOID:630 genetic disease ISO RGD:1350227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590105 Col25a1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:7240710 20170222 OMIM 1590105 Col25a1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 PMID:25500261|PMID:25741868|PMID:31875546 1590105 Col25a1 collagen type XXV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1603375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590138 Ajap1 adherens junctions associated protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1590138 Ajap1 adherens junctions associated protein 1 gene DOID:12712 nephronophthisis ISO RGD:1603390 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 1590138 Ajap1 adherens junctions associated protein 1 gene DOID:630 genetic disease ISO RGD:1603390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590138 Ajap1 adherens junctions associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603390 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590139 Ss18l2 SS18 like 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1347853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1590139 Ss18l2 SS18 like 2 gene DOID:630 genetic disease ISO RGD:1347853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590146 Sec22c SEC22 homolog C, vesicle trafficking protein gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1607079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 1590146 Sec22c SEC22 homolog C, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1607079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590210 A4gnt alpha-1,4-N-acetylglucosaminyltransferase gene DOID:1793 pancreatic cancer ISO RGD:1348447 D RGD:2325199|PMID:16441422 20100524 RGD mRNA:increased expression:blood, mononuclear cell 1590210 A4gnt alpha-1,4-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1348447 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590212 Tmem229a transmembrane protein 229A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3102903 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1590212 Tmem229a transmembrane protein 229A gene DOID:630 genetic disease ISO RGD:3102903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590218 Aldh8a1 aldehyde dehydrogenase 8 family, member A1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1319646 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1590218 Aldh8a1 aldehyde dehydrogenase 8 family, member A1 gene DOID:13580 cholestasis ISO RGD:1319646 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 1590218 Aldh8a1 aldehyde dehydrogenase 8 family, member A1 gene DOID:630 genetic disease ISO RGD:1319646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590236 Hoxa6 homeobox A6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352106 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1590236 Hoxa6 homeobox A6 gene DOID:630 genetic disease ISO RGD:1352106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590239 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1590239 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:630 genetic disease ISO RGD:1353306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590239 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353306 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590239 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1590245 Cib3 calcium and integrin binding family member 3 gene DOID:630 genetic disease ISO RGD:1312677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1342724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:25741868 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1342724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1342724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0111254 glutaric acidemia I ISO RGD:1342724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:3413 alpha-mannosidosis ISO RGD:1342724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:630 genetic disease ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590249 Dand5 DAN domain BMP antagonist family member 5 gene DOID:758 situs inversus ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:25741868 1590261 Nav1 neuron navigator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1590261 Nav1 neuron navigator 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1590261 Nav1 neuron navigator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315590 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1590261 Nav1 neuron navigator 1 gene DOID:630 genetic disease ISO RGD:1315590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590261 Nav1 neuron navigator 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1590261 Nav1 neuron navigator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315590 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1590266 Pabir3 PABIR family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605854 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1590266 Pabir3 PABIR family member 3 gene DOID:12849 autistic disorder ISO RGD:1605854 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590266 Pabir3 PABIR family member 3 gene DOID:630 genetic disease ISO RGD:1605854 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590267 LOC685700 hypothetical protein LOC685700 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605257 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1590267 LOC685700 hypothetical protein LOC685700 gene DOID:12849 autistic disorder ISO RGD:1605257 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590267 LOC685700 hypothetical protein LOC685700 gene DOID:630 genetic disease ISO RGD:1605257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590267 LOC685700 hypothetical protein LOC685700 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605257 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590287 Btnl9 butyrophilin-like 9 gene DOID:630 genetic disease ISO RGD:1353775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590326 Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345088 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1590326 Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:12849 autistic disorder ISO RGD:1345088 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590326 Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:630 genetic disease ISO RGD:1345088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590327 Tlr8 toll-like receptor 8 gene DOID:0050777 Joubert syndrome ISO RGD:1605396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 1590327 Tlr8 toll-like receptor 8 gene DOID:11168 anogenital venereal wart ISO RGD:1605396 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 1590327 Tlr8 toll-like receptor 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1605396 D RGD:5129471|PMID:19386802 20110330 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) 1590327 Tlr8 toll-like receptor 8 gene DOID:12849 autistic disorder ISO RGD:1605396 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590327 Tlr8 toll-like receptor 8 gene DOID:1883 hepatitis C ISO RGD:1605396 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 1590327 Tlr8 toll-like receptor 8 gene DOID:2773 contact dermatitis ISO RGD:1605396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1590327 Tlr8 toll-like receptor 8 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1620654 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 1590327 Tlr8 toll-like receptor 8 gene DOID:630 genetic disease ISO RGD:1605396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590327 Tlr8 toll-like receptor 8 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1605396 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Autoimmune hemolytic anemia PMID:25741868|PMID:33512449|PMID:34981838 1590327 Tlr8 toll-like receptor 8 gene DOID:8398 osteoarthritis ISO RGD:1605396 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Osteoarthritis 1590327 Tlr8 toll-like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:7240710 20220427 OMIM 1590327 Tlr8 toll-like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:25741868|PMID:28492532|PMID:33512449|PMID:34981838 1590327 Tlr8 toll-like receptor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605396 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590328 Cenpo centromere protein O gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1590328 Cenpo centromere protein O gene DOID:630 genetic disease ISO RGD:1603956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590328 Cenpo centromere protein O gene DOID:9970 obesity ISO RGD:1603956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 PMID:25741868|PMID:29311637 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1351020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351020 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:26506222|PMID:28492532|PMID:31680123 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:1115 sarcoma IEP D RGD:5143928|PMID:2560335 20110727 RGD protein:decreased activity:tumor (rat) 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:1351020 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1598762|PMID:3360219 20110726 RGD protein:increased activity:heart (rat) 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:7240710 20190315 OMIM 1590342 Adss1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 5 PMID:16199547|PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:31680123|PMID:32331917 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1351958 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:1024 leprosy ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:25320285 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:10247 pleurisy ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15380531 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:11573 listeriosis ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16177108|PMID:21699557 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:1911 endodermal sinus tumor ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:285 hairy cell leukemia ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:399 tuberculosis ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30202016 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:630 genetic disease ISO RGD:1351958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:707 B-cell lymphoma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:820 myocarditis ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679|PMID:8701986|PMID:8896393|PMID:9058727|PMID:10908157|PMID:11552987|PMID:12358914 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9000918 Disease Progression ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9001274 Diabetes Mellitus, Congenital Autoimmune ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12930356 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15316035|PMID:18941223 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:12235215 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:11594583 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9005968 Neuralgia ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9007702 Carcinogenesis ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9119 acute myeloid leukemia ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727|PMID:10512160|PMID:11918534 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:9538 multiple myeloma ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 1590403 Tnfsf8 TNF superfamily member 8 gene DOID:999 hypereosinophilic syndrome ISO RGD:1351958 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:8896393 1590470 Slc25a18 solute carrier family 25 member 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1590470 Slc25a18 solute carrier family 25 member 18 gene DOID:630 genetic disease ISO RGD:1350192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590470 Slc25a18 solute carrier family 25 member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350192 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590470 Slc25a18 solute carrier family 25 member 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1590513 Mlip muscular LMNA-interacting protein gene DOID:630 genetic disease ISO RGD:1315218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590513 Mlip muscular LMNA-interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:7240710 20221214 OMIM 1590513 Mlip muscular LMNA-interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis PMID:34581780|PMID:34935254|PMID:35672413|PMID:35915960 1590535 Vbp1 VHL binding protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1590535 Vbp1 VHL binding protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1590535 Vbp1 VHL binding protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1590535 Vbp1 VHL binding protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352433 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1590535 Vbp1 VHL binding protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1590535 Vbp1 VHL binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1590535 Vbp1 VHL binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1352433 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590535 Vbp1 VHL binding protein 1 gene DOID:13628 favism ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1590535 Vbp1 VHL binding protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1590535 Vbp1 VHL binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352433 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1590535 Vbp1 VHL binding protein 1 gene DOID:607 paraplegia ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1590535 Vbp1 VHL binding protein 1 gene DOID:630 genetic disease ISO RGD:1352433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590535 Vbp1 VHL binding protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1352433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1590540 Erich5 glutamate-rich 5 gene DOID:630 genetic disease ISO RGD:1606129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590566 Dph3 diphthamide biosynthesis 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1346924 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1590566 Dph3 diphthamide biosynthesis 3 gene DOID:630 genetic disease ISO RGD:1346924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:35351988 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354195 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:11476 osteoporosis ISO RGD:1354195 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354195 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1354195 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1590569 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:630 genetic disease ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590570 C7h12orf54 similar to human chromosome 12 open reading frame 54 gene DOID:630 genetic disease ISO RGD:1606175 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590579 Rbm41 RNA binding motif protein 41 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1590579 Rbm41 RNA binding motif protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605361 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1590579 Rbm41 RNA binding motif protein 41 gene DOID:12849 autistic disorder ISO RGD:1605361 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590579 Rbm41 RNA binding motif protein 41 gene DOID:630 genetic disease ISO RGD:1605361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2291813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2291813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:2291813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:1059 intellectual disability ISO RGD:2291813 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849|PMID:31928709 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2291813 D RGD:150429668|PMID:27050164 20210914 RGD mRNA:decreased expression:esophagus squamous epithelium (human) 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:543 dystonia ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:630 genetic disease ISO RGD:2291813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31928709 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291813 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:7240710 20200617 OMIM 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency PMID:25741868|PMID:28492532|PMID:30167849|PMID:31928709 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:2291813 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Global developmental delay 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:2291813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9008582 Developmental Disease ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1590584 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9538 multiple myeloma ISO RGD:2291813 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1590602 Tmem241 transmembrane protein 241 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1590602 Tmem241 transmembrane protein 241 gene DOID:1059 intellectual disability ISO RGD:1351617 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1590602 Tmem241 transmembrane protein 241 gene DOID:630 genetic disease ISO RGD:1351617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348448 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1348448 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1348448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348448 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1348448 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1590611 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1348448 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1590628 Sem1 SEM1 26S proteasome subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1349756 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:18922899 1590628 Sem1 SEM1 26S proteasome subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349756 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345696 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:1826 epilepsy ISO RGD:1345696 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:3652 Leigh disease ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:630 genetic disease ISO RGD:1345696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590629 Sapcd2 suppressor APC domain containing 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1590637 Tmem236 transmembrane protein 236 gene DOID:630 genetic disease ISO RGD:1349731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590638 H1f5 H1.5 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1351111 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590645 Ckap2l cytoskeleton associated protein 2-like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:7240710 20171011 OMIM 1590645 Ckap2l cytoskeleton associated protein 2-like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Filippi syndrome PMID:15365457|PMID:18553552|PMID:25439729|PMID:25741868|PMID:28492532|PMID:8867657 1590645 Ckap2l cytoskeleton associated protein 2-like gene DOID:1924 hypogonadism ISO RGD:1602064 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hypogonadism 1590645 Ckap2l cytoskeleton associated protein 2-like gene DOID:630 genetic disease ISO RGD:1602064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1590645 Ckap2l cytoskeleton associated protein 2-like gene DOID:684 hepatocellular carcinoma ISO RGD:1602064 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1590688 Marchf9 membrane associated ring-CH-type finger 9 gene DOID:630 genetic disease ISO RGD:1351043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590688 Marchf9 membrane associated ring-CH-type finger 9 gene DOID:6846 familial melanoma ISO RGD:1351043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1590711 Eef1akmt3 EEF1A lysine methyltransferase 3 gene DOID:6846 familial melanoma ISO RGD:1604024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1590736 Mapre2 microtubule-associated protein, RP/EB family, member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:7240710 20160217 OMIM 1590736 Mapre2 microtubule-associated protein, RP/EB family, member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 PMID:19182162|PMID:21262397|PMID:25741868|PMID:26637975|PMID:31903734 1590736 Mapre2 microtubule-associated protein, RP/EB family, member 2 gene DOID:1059 intellectual disability ISO RGD:1344538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1590736 Mapre2 microtubule-associated protein, RP/EB family, member 2 gene DOID:630 genetic disease ISO RGD:1344538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743 1590736 Mapre2 microtubule-associated protein, RP/EB family, member 2 gene DOID:9008582 Developmental Disease ISO RGD:1344538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26637975 1590738 Esx1 ESX homeobox 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350335 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1590738 Esx1 ESX homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1350335 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590738 Esx1 ESX homeobox 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1350335 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 1590738 Esx1 ESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1350335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590753 Nelfcd negative elongation factor complex member C/D gene DOID:10283 prostate cancer disease_progression ISO RGD:1346942 D RGD:9693724|PMID:19945309 20150212 RGD 1590753 Nelfcd negative elongation factor complex member C/D gene DOID:630 genetic disease ISO RGD:1346942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590757 Crisp1 cysteine-rich secretory protein 1 gene DOID:630 genetic disease ISO RGD:1603324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1342501 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:7240710 20140911 OMIM 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 PMID:12923531|PMID:23364359|PMID:25741868|PMID:28259707|PMID:28492532|PMID:30990103 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:150 disease of mental health ISO RGD:1342501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25298178 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:2223 platelet storage pool deficiency ISS RGD:1619063 D RGD:13592920 20180518 MouseDO OMIM:185050 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:11251761|PMID:22337344 20160621 RGD protein:increased expression:cerebral cortex, hippocampus 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1342501 D RGD:11251761|PMID:22337344 20160621 RGD protein:increased expression:temporal cortex 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1342501 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:24033266|PMID:28492532 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1619063 D RGD:11251756|PMID:12923531 20160621 RGD DNA:deletion:intron, exon 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:11251758|PMID:15345706 20160621 RGD DNA:SNPs, haplotypes:intron, promoter:multiple 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:1358610|PMID:12474144 20110506 RGD DNA:SNPs: :multiple (human) 1590759 Dtnbp1 dystrobrevin binding protein 1 gene DOID:630 genetic disease ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590760 Popdc3 popeye domain containing 3 gene DOID:630 genetic disease ISO RGD:1343916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590760 Popdc3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:7240710 20200429 OMIM 1590760 Popdc3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 PMID:31610034 1590761 Pcdhga1 protocadherin gamma subfamily A, 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353144 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1590761 Pcdhga1 protocadherin gamma subfamily A, 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353144 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1590761 Pcdhga1 protocadherin gamma subfamily A, 1 gene DOID:630 genetic disease ISO RGD:1353144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590761 Pcdhga1 protocadherin gamma subfamily A, 1 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1353144 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1590761 Pcdhga1 protocadherin gamma subfamily A, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353144 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590761 Pcdhga1 protocadherin gamma subfamily A, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353144 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0050563 nonsyndromic deafness ISS RGD:1317745 D RGD:13592920 20181004 MouseDO 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:7240710 20190605 OMIM 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 100 PMID:15538632|PMID:25741868|PMID:29590114 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:10283 prostate cancer ISO RGD:1604040 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1604040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604040 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590765 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1590784 Ift70b intraflagellar transport 70B gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1603563 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 1590784 Ift70b intraflagellar transport 70B gene DOID:630 genetic disease ISO RGD:1603563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590797 Marchf4 membrane associated ring-CH-type finger 4 gene DOID:630 genetic disease ISO RGD:1353584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590797 Marchf4 membrane associated ring-CH-type finger 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353584 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590797 Marchf4 membrane associated ring-CH-type finger 4 gene DOID:9255 frontotemporal dementia ISO RGD:1353584 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:29476165 1590799 Kansl1l KAT8 regulatory NSL complex subunit 1-like gene DOID:14557 primary pulmonary hypertension ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1590799 Kansl1l KAT8 regulatory NSL complex subunit 1-like gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606446 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1590799 Kansl1l KAT8 regulatory NSL complex subunit 1-like gene DOID:630 genetic disease ISO RGD:1606446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590799 Kansl1l KAT8 regulatory NSL complex subunit 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606446 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590818 Ak5 adenylate kinase 5 gene DOID:630 genetic disease ISO RGD:1353587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590818 Ak5 adenylate kinase 5 gene DOID:670 amphetamine abuse ISO RGD:1353587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1590842 Rnf170 ring finger protein 170 gene DOID:0050951 hereditary ataxia ISS RGD:1615793 D RGD:13592920 20180518 MouseDO 1590842 Rnf170 ring finger protein 170 gene DOID:0090039 torsion dystonia 6 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 1590842 Rnf170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:7240710 20180418 OMIM 1590842 Rnf170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 PMID:17190954|PMID:18414213|PMID:21115467|PMID:25741868|PMID:25882839|PMID:28492532|PMID:31589614|PMID:31636353|PMID:32943585|PMID:34420199 1590842 Rnf170 ring finger protein 170 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1352237 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 1590842 Rnf170 ring finger protein 170 gene DOID:0111959 immunodeficiency 15B ISO RGD:1352237 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 1590842 Rnf170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:7240710 20220112 OMIM 1590842 Rnf170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive PMID:25741868|PMID:31636353|PMID:35041108 1590842 Rnf170 ring finger protein 170 gene DOID:607 paraplegia ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:31636353 1590842 Rnf170 ring finger protein 170 gene DOID:630 genetic disease ISO RGD:1352237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590842 Rnf170 ring finger protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352237 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590842 Rnf170 ring finger protein 170 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1352237 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 1590842 Rnf170 ring finger protein 170 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1352237 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 1590843 Wdr17 WD repeat domain 17 gene DOID:630 genetic disease ISO RGD:1349408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590843 Wdr17 WD repeat domain 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349408 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590843 Wdr17 WD repeat domain 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1349408 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1590844 Shcbp1 SHC binding and spindle associated 1 gene DOID:0080600 COVID-19 ISO RGD:1354140 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1590844 Shcbp1 SHC binding and spindle associated 1 gene DOID:5485 synovial sarcoma ISO RGD:1354140 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27572315 1590844 Shcbp1 SHC binding and spindle associated 1 gene DOID:630 genetic disease ISO RGD:1354140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590844 Shcbp1 SHC binding and spindle associated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:13938 amenorrhea ISO RGD:1353205 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:219 colon cancer ISO RGD:1353205 D RGD:9587457|PMID:24845563 20141015 RGD 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:219 colon cancer disease_progression ISO RGD:1353205 D RGD:9587457|PMID:24845563 20141015 RGD mRNA,protein:increased expression:colonic mucosa: 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:3070 high grade glioma susceptibility ISO RGD:1353205 D RGD:9587459|PMID:18048407 20141015 RGD DNA:SNP:intron:rs243356(human) 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:403 mouth disease ISO RGD:1353205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:630 genetic disease ISO RGD:1353205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma ISO RGD:1353205 D RGD:9587458|PMID:24335960 20141015 RGD mRNA:increased expression: : 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma disease_progression ISO RGD:1353205 D RGD:9587458|PMID:24335960 20141015 RGD mRNA:increased expression: : 1590865 Chaf1a chromatin assembly factor 1 subunit A gene DOID:9074 systemic lupus erythematosus ISO RGD:1353205 D RGD:9587742|PMID:24836587 20141016 RGD 1590866 Ubxn6 UBX domain protein 6 gene DOID:13938 amenorrhea ISO RGD:1347744 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1590866 Ubxn6 UBX domain protein 6 gene DOID:630 genetic disease ISO RGD:1347744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590867 Plin4 perilipin 4 gene DOID:13938 amenorrhea ISO RGD:1347657 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1590867 Plin4 perilipin 4 gene DOID:630 genetic disease ISO RGD:1347657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:0081013 severe COVID-19 ISO RGD:1603893 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:10316 pneumoconiosis ISO RGD:1603893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1603893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1603893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1603893 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1603893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 ISO RGD:1603893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4 PMID:22105173|PMID:24033266|PMID:25741868|PMID:26513235|PMID:28492532 1590868 Ticam1 TIR domain containing adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 susceptibility ISO RGD:1603893 D RGD:7240710 20190502 OMIM 1590869 Dennd1c DENN domain containing 1C gene DOID:0080490 mucolipidosis type IV ISO RGD:1345609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1590869 Dennd1c DENN domain containing 1C gene DOID:630 genetic disease ISO RGD:1345609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590880 Pan3 poly(A) specific ribonuclease subunit PAN3 gene DOID:630 genetic disease ISO RGD:1603874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590881 Atp13a3 ATPase 13A3 gene DOID:630 genetic disease ISO RGD:1353842 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590881 Atp13a3 ATPase 13A3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 1590881 Atp13a3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:7240710 20220608 OMIM 1590881 Atp13a3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 5, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 1590883 Fam162a family with sequence similarity 162, member A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 1590883 Fam162a family with sequence similarity 162, member A gene DOID:630 genetic disease ISO RGD:1603057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590883 Fam162a family with sequence similarity 162, member A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603057 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 1590883 Fam162a family with sequence similarity 162, member A gene DOID:9270 alkaptonuria ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1590885 Shd src homology 2 domain-containing transforming protein D gene DOID:13938 amenorrhea ISO RGD:1601984 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1590885 Shd src homology 2 domain-containing transforming protein D gene DOID:630 genetic disease ISO RGD:1601984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590890 Itsn2 intersectin 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 1590890 Itsn2 intersectin 2 gene DOID:1184 nephrotic syndrome ISS RGD:1558192 D RGD:13592920 20180802 MouseDO 1590890 Itsn2 intersectin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1353883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 1590890 Itsn2 intersectin 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1353883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 1590890 Itsn2 intersectin 2 gene DOID:630 genetic disease ISO RGD:1353883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590890 Itsn2 intersectin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353883 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1590890 Itsn2 intersectin 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 1590890 Itsn2 intersectin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 1590891 Rpap1 RNA polymerase II associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1342806 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1590891 Rpap1 RNA polymerase II associated protein 1 gene DOID:630 genetic disease ISO RGD:1342806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590891 Rpap1 RNA polymerase II associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1342806 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1590893 Fam169a family with sequence similarity 169, member A gene DOID:0080600 COVID-19 ISO RGD:2300032 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1590893 Fam169a family with sequence similarity 169, member A gene DOID:3323 Sandhoff disease ISO RGD:2300032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 1590893 Fam169a family with sequence similarity 169, member A gene DOID:630 genetic disease ISO RGD:2300032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590893 Fam169a family with sequence similarity 169, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2300032 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590898 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1352263 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1590898 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23707396|PMID:23842646 1590898 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia TAS D RGD:1298615|PMID:7773298 20070405 RGD 1590898 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352263 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1590898 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352263 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1590901 Krt16 keratin 16 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISS RGD:1557926 D RGD:13592920 20190321 MouseDO OMIM:600962 | OMIM:613000 | OMIM:615735 1590901 Krt16 keratin 16 gene DOID:0050449 pachyonychia congenita ISO RGD:1345926 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 1590901 Krt16 keratin 16 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:1345926 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:25741868|PMID:28492532 1590901 Krt16 keratin 16 gene DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 ISO RGD:1345926 D RGD:7240710 20131030 OMIM 1590901 Krt16 keratin 16 gene DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 ISO RGD:1345926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 PMID:16250206|PMID:24491404|PMID:25741868|PMID:28492532|PMID:31823354|PMID:8595410 1590901 Krt16 keratin 16 gene DOID:11054 urinary bladder cancer ISO RGD:1345926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20186695 1590901 Krt16 keratin 16 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1345926 D RGD:1600184|PMID:7539673 20070301 RGD protein:mutation: ; L130P; pachyonychia congenita, OMIM:167200 1590901 Krt16 keratin 16 gene DOID:3748 esophagus squamous cell carcinoma IEP D RGD:633113|PMID:8950218 20151103 RGD 1590901 Krt16 keratin 16 gene DOID:630 genetic disease ISO RGD:1345926 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1590901 Krt16 keratin 16 gene DOID:9008242 Pachyonychia Congenita 1 ISO RGD:1345926 D RGD:7240710 20190327 OMIM 1590901 Krt16 keratin 16 gene DOID:9008242 Pachyonychia Congenita 1 ISO RGD:1345926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 1 PMID:10606845|PMID:10839714|PMID:11359398|PMID:11886499|PMID:16250206|PMID:24491404|PMID:24611874|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31823354|PMID:8595410 1590924 Wapl WAPL cohesin release factor gene DOID:630 genetic disease ISO RGD:1319037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590928 Cdc45 cell division cycle 45 gene DOID:0060041 autism spectrum disorder ISO RGD:1352573 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1590928 Cdc45 cell division cycle 45 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1352573 D RGD:11554173 20190430 CTD CTD Direct Evidence: marker/mechanism 1590928 Cdc45 cell division cycle 45 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1590928 Cdc45 cell division cycle 45 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1590928 Cdc45 cell division cycle 45 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868|PMID:28492532|PMID:31474763 1590928 Cdc45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:7240710 20190424 OMIM 1590928 Cdc45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 PMID:25741868|PMID:27374770|PMID:28492532|PMID:29036220|PMID:30986546 1590928 Cdc45 cell division cycle 45 gene DOID:0080600 COVID-19 ISO RGD:1352573 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1590928 Cdc45 cell division cycle 45 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1590928 Cdc45 cell division cycle 45 gene DOID:1059 intellectual disability ISO RGD:1352573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1590928 Cdc45 cell division cycle 45 gene DOID:10907 microcephaly ISO RGD:1352573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1590928 Cdc45 cell division cycle 45 gene DOID:11198 DiGeorge syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1590928 Cdc45 cell division cycle 45 gene DOID:11372 megacolon ISO RGD:1352573 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1590928 Cdc45 cell division cycle 45 gene DOID:12583 velocardiofacial syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1590928 Cdc45 cell division cycle 45 gene DOID:12849 autistic disorder ISO RGD:1352573 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590928 Cdc45 cell division cycle 45 gene DOID:1826 epilepsy ISO RGD:1352573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1590928 Cdc45 cell division cycle 45 gene DOID:5419 schizophrenia ISO RGD:1352573 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1590928 Cdc45 cell division cycle 45 gene DOID:612 primary immunodeficiency disease ISO RGD:1352573 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1590928 Cdc45 cell division cycle 45 gene DOID:630 genetic disease ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1590928 Cdc45 cell division cycle 45 gene DOID:684 hepatocellular carcinoma ISO RGD:1352573 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1590928 Cdc45 cell division cycle 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352573 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590928 Cdc45 cell division cycle 45 gene DOID:9007661 Dwarfism ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1590928 Cdc45 cell division cycle 45 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352573 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1590932 Prodh proline dehydrogenase gene DOID:0060041 autism spectrum disorder ISO RGD:1343717 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1590932 Prodh proline dehydrogenase gene DOID:0070080 schizophrenia 4 ISO RGD:1343717 D RGD:7240710 20230517 OMIM 1590932 Prodh proline dehydrogenase gene DOID:0070080 schizophrenia 4 ISO RGD:1343717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 4 PMID:11510941|PMID:11891283|PMID:12217952|PMID:15449943|PMID:15494707|PMID:15662599|PMID:17412540|PMID:20524212|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28708303 1590932 Prodh proline dehydrogenase gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1590932 Prodh proline dehydrogenase gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:7240710 20230517 OMIM 1590932 Prodh proline dehydrogenase gene DOID:0080542 hyperprolinemia type 1 ISO RGD:1343717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proline dehydrogenase deficiency PMID:11510941|PMID:11891283|PMID:12217952|PMID:12525555|PMID:15449943|PMID:15494707|PMID:15662599|PMID:16199547|PMID:17412540|PMID:17576681|PMID:19736351|PMID:20524212|PMID:24033266|PMID:25312060|PMID:25741868|PMID:26978485|PMID:28492532|PMID:28708303|PMID:9536098 1590932 Prodh proline dehydrogenase gene DOID:0111996 immunodeficiency 51 ISO RGD:1343717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1590932 Prodh proline dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1343717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1590932 Prodh proline dehydrogenase gene DOID:11198 DiGeorge syndrome ISO RGD:1343717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1590932 Prodh proline dehydrogenase gene DOID:11372 megacolon ISO RGD:1343717 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1590932 Prodh proline dehydrogenase gene DOID:12583 velocardiofacial syndrome ISO RGD:1343717 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 1590932 Prodh proline dehydrogenase gene DOID:12849 autistic disorder ISO RGD:1343717 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590932 Prodh proline dehydrogenase gene DOID:1826 epilepsy ISO RGD:1343717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1590932 Prodh proline dehydrogenase gene DOID:5419 schizophrenia ISO RGD:1343717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16234811 1590932 Prodh proline dehydrogenase gene DOID:5419 schizophrenia ISO RGD:1343717 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1590932 Prodh proline dehydrogenase gene DOID:612 primary immunodeficiency disease ISO RGD:1343717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1590932 Prodh proline dehydrogenase gene DOID:630 genetic disease ISO RGD:1343717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11510941|PMID:12217952|PMID:15449943|PMID:15494707|PMID:15662599|PMID:17412540|PMID:20524212|PMID:25741868|PMID:28492532 1590932 Prodh proline dehydrogenase gene DOID:863 nervous system disease ISO RGD:1343717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17412540 1590932 Prodh proline dehydrogenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1590932 Prodh proline dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343717 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590932 Prodh proline dehydrogenase gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1590932 Prodh proline dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:1343717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17412540 1590932 Prodh proline dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:1343717 D RGD:1599206|PMID:12217952 20070119 RGD 1590938 Vsir V-set immunoregulatory receptor gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 1590938 Vsir V-set immunoregulatory receptor gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1605963 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 1590938 Vsir V-set immunoregulatory receptor gene DOID:0110831 Usher syndrome type 1D ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID PMID:25741868 1590938 Vsir V-set immunoregulatory receptor gene DOID:0111330 combined saposin deficiency ISO RGD:1605963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 1590938 Vsir V-set immunoregulatory receptor gene DOID:0112008 pituitary adenoma 5 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868 1590938 Vsir V-set immunoregulatory receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605963 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1590939 Sh3bp5l SH3 binding domain protein 5 like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606500 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1590939 Sh3bp5l SH3 binding domain protein 5 like gene DOID:630 genetic disease ISO RGD:1606500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590942 Zfp426 zinc finger protein 426 gene DOID:12849 autistic disorder ISO RGD:1318534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590942 Zfp426 zinc finger protein 426 gene DOID:630 genetic disease ISO RGD:1318534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590948 Oosp2 oocyte secreted protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1590948 Oosp2 oocyte secreted protein 2 gene DOID:1059 intellectual disability ISO RGD:1603163 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1590948 Oosp2 oocyte secreted protein 2 gene DOID:630 genetic disease ISO RGD:1603163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590949 Zik1 zinc finger protein interacting with K protein 1 gene DOID:630 genetic disease ISO RGD:1604492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590955 Fam131c family with sequence similarity 131, member C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1590955 Fam131c family with sequence similarity 131, member C gene DOID:630 genetic disease ISO RGD:1606908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590963 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:7240710 20200226 OMIM 1590963 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 PMID:25741868|PMID:31866046 1590963 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:630 genetic disease ISO RGD:1626571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590963 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:1626571 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:31866046 1590969 Pcdh15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19309154 1590969 Pcdh15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8547536|PMID:20212494 20140217 RGD 1590969 Pcdh15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27058588|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:0050563 nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28281779|PMID:28492532 1590969 Pcdh15 protocadherin related 15 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 1590969 Pcdh15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:7240710 20130619 OMIM 1590969 Pcdh15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 23 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23451239|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24705292|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26791358|PMID:26969326|PMID:27058588|PMID:27440999|PMID:27460420|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30029624|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:32747562|PMID:33111345|PMID:34440452|PMID:34751129|PMID:35802133|PMID:36633841|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:20672374|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27058588|PMID:27208204|PMID:27460420|PMID:27610647|PMID:27766948|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31054281|PMID:33090715|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1353280 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 1590969 Pcdh15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:7240710 20130619 OMIM 1590969 Pcdh15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19375528|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22815625|PMID:22981120|PMID:23451239|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:25999675|PMID:26467025|PMID:26872967|PMID:27058588|PMID:27460420|PMID:27610647|PMID:27766948|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:29568747|PMID:29625443|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:7240710 20130619 OMIM 1590969 Pcdh15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16283880|PMID:16679490|PMID:16963483|PMID:17277737|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:20538994|PMID:20672374|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:22952768|PMID:22981120|PMID:23451239|PMID:23462753|PMID:23591405|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24705292|PMID:24831256|PMID:24853665|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25575603|PMID:25741868|PMID:26166082|PMID:26226137|PMID:26279247|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27058588|PMID:27068579|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27766948|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28847902|PMID:28900111|PMID:28944237|PMID:28968992|PMID:28984810|PMID:29074561|PMID:29568747|PMID:29625443|PMID:30029624|PMID:30054919|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31054281|PMID:32467589|PMID:33090715|PMID:33111345|PMID:33576794|PMID:34416374|PMID:34744965|PMID:34751129|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:0110834 Usher syndrome type 1G ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11398101|PMID:11487575|PMID:12588794|PMID:12711741|PMID:14570705|PMID:15028842|PMID:20301442|PMID:22815625|PMID:24033266|PMID:24105371|PMID:25262649|PMID:25307757|PMID:25525159|PMID:25741868|PMID:27460420|PMID:28492532 1590969 Pcdh15 protocadherin related 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1353280 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 1590969 Pcdh15 protocadherin related 15 gene DOID:10584 retinitis pigmentosa ISO RGD:1353280 D RGD:8547536|PMID:20212494 20140217 RGD 1590969 Pcdh15 protocadherin related 15 gene DOID:10584 retinitis pigmentosa ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:12849 autistic disorder ISO RGD:1353280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1590969 Pcdh15 protocadherin related 15 gene DOID:303 substance-related disorder ISO RGD:1353280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1590969 Pcdh15 protocadherin related 15 gene DOID:5419 schizophrenia ISO RGD:1353280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1590969 Pcdh15 protocadherin related 15 gene DOID:5463 cochlear disease ISO RGD:1353280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 1590969 Pcdh15 protocadherin related 15 gene DOID:630 genetic disease ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 1590969 Pcdh15 protocadherin related 15 gene DOID:8501 fundus dystrophy ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11398101|PMID:11487575|PMID:14570705|PMID:22815625|PMID:23451239|PMID:25741868|PMID:26791358|PMID:27208204|PMID:27743452|PMID:28492532|PMID:30311386|PMID:30459346 1590969 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 1590969 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:20301442|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 1590969 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27058588|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 1590969 Pcdh15 protocadherin related 15 gene DOID:9004538 Hearing Loss ISO RGD:1353280 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30029624 1590969 Pcdh15 protocadherin related 15 gene DOID:9004538 Hearing Loss ISO RGD:1353280 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25468891|PMID:25741868|PMID:28492532|PMID:30311386 1590969 Pcdh15 protocadherin related 15 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:1353280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:15537665|PMID:15660226|PMID:24033266 1590969 Pcdh15 protocadherin related 15 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1353280 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:23804846|PMID:25741868|PMID:26226137|PMID:28492532|PMID:30029624 1590969 Pcdh15 protocadherin related 15 gene DOID:9008681 Deafness IAGP D RGD:2306012|PMID:19151506 20210909 RGD DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) 1590969 Pcdh15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1353280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 1590969 Pcdh15 protocadherin related 15 gene DOID:9849 Meniere's disease ISO RGD:1353280 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868|PMID:28492532 1590972 Stk33 serine/threonine kinase 33 gene DOID:630 genetic disease ISO RGD:1315072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590972 Stk33 serine/threonine kinase 33 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315072 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 1590980 Aatk apoptosis-associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:1317702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590985 Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 1590985 Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:0060071 pre-malignant neoplasm ISO RGD:1348323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1590985 Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1590985 Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:5339 cyclic hematopoiesis ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1590985 Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:630 genetic disease ISO RGD:1348323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1590985 Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348323 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1590988 Rps4y2 ribosomal protein S4, Y-linked 2 gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1353093 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism 1590988 Rps4y2 ribosomal protein S4, Y-linked 2 gene DOID:12849 autistic disorder ISO RGD:1353093 D RGD:8554872 20200915 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1591005 Onecut3 one cut homeobox 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1591005 Onecut3 one cut homeobox 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1591005 Onecut3 one cut homeobox 3 gene DOID:630 genetic disease ISO RGD:1351058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591005 Onecut3 one cut homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351058 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591007 Gngt2 G protein subunit gamma transducin 2 gene DOID:630 genetic disease ISO RGD:1343902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591007 Gngt2 G protein subunit gamma transducin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1591020 Adat1 adenosine deaminase, tRNA-specific 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 1591020 Adat1 adenosine deaminase, tRNA-specific 1 gene DOID:10283 prostate cancer ISO RGD:1320789 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1591020 Adat1 adenosine deaminase, tRNA-specific 1 gene DOID:630 genetic disease ISO RGD:1320789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591023 Smim13 small integral membrane protein 13 gene DOID:630 genetic disease ISO RGD:5508051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591034 Zar1l zygote arrest 1-like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:29766361|PMID:31843900 1591034 Zar1l zygote arrest 1-like gene DOID:630 genetic disease ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:28492532|PMID:32376792 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318848 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:1318848 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T PMID:24088041|PMID:26633545 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:22522442|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1318848 D RGD:7240710 20140903 OMIM 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:16199547|PMID:17576681|PMID:22522442|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26257172|PMID:26752306|PMID:27083531|PMID:27449489|PMID:28492532|PMID:32376792|PMID:9536098 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:22522442|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:1148 polydactyly ISO RGD:1318848 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:630 genetic disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532|PMID:32376792 1591035 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318848 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591038 LOC689589 hypothetical protein LOC689589 gene DOID:0060224 atrial fibrillation ISO RGD:1601806 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1591038 LOC689589 hypothetical protein LOC689589 gene DOID:630 genetic disease ISO RGD:1601806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591045 Kdm4d lysine demethylase 4D gene DOID:1059 intellectual disability ISO RGD:1353550 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591045 Kdm4d lysine demethylase 4D gene DOID:12704 ataxia telangiectasia ISO RGD:1353550 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1591045 Kdm4d lysine demethylase 4D gene DOID:2154 nephroblastoma ISO RGD:1353550 D RGD:9588525|PMID:24219278 20141029 RGD mRNA:increased expression:kidney (human) 1591045 Kdm4d lysine demethylase 4D gene DOID:630 genetic disease ISO RGD:1353550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591051 Nkain3 Sodium/potassium transporting ATPase interacting 3 gene DOID:630 genetic disease ISO RGD:1606659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591053 Stmp1 short transmembrane mitochondrial protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5480038 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591057 Spink13 serine peptidase inhibitor Kazal type 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2949691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1591057 Spink13 serine peptidase inhibitor Kazal type 13 gene DOID:630 genetic disease ISO RGD:2949691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591057 Spink13 serine peptidase inhibitor Kazal type 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2949691 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591057 Spink13 serine peptidase inhibitor Kazal type 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2949691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1591066 Bnip5 BCL2 interacting protein 5 gene DOID:0050553 JMP syndrome ISO RGD:1605195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1591066 Bnip5 BCL2 interacting protein 5 gene DOID:10283 prostate cancer ISO RGD:1605195 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1591103 Wdr64 WD repeat domain 64 gene DOID:0111261 fumarase deficiency ISO RGD:1605299 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 1591103 Wdr64 WD repeat domain 64 gene DOID:1540 parathyroid carcinoma ISO RGD:1605299 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591103 Wdr64 WD repeat domain 64 gene DOID:630 genetic disease ISO RGD:1605299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591103 Wdr64 WD repeat domain 64 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605299 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591103 Wdr64 WD repeat domain 64 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1605299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 1591103 Wdr64 WD repeat domain 64 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605299 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591104 Lin9 lin-9 DREAM MuvB core complex component gene DOID:1540 parathyroid carcinoma ISO RGD:1348970 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591104 Lin9 lin-9 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1348970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591104 Lin9 lin-9 DREAM MuvB core complex component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348970 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591112 Clrn2 clarin 2 gene DOID:630 genetic disease ISO RGD:2291757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591112 Clrn2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:7240710 20210303 OMIM 1591112 Clrn2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 117 PMID:25741868|PMID:33496845 1591129 Ccdc137 coiled-coil domain containing 137 gene DOID:5419 schizophrenia ISO RGD:1625086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 1591129 Ccdc137 coiled-coil domain containing 137 gene DOID:630 genetic disease ISO RGD:1625086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591130 Pde6g phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:7240710 20130731 OMIM 1591130 Pde6g phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 57 PMID:17576681|PMID:20655036|PMID:25741868|PMID:28492532|PMID:9536098 1591130 Pde6g phosphodiesterase 6G gene DOID:10584 retinitis pigmentosa ISO RGD:735391 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1591130 Pde6g phosphodiesterase 6G gene DOID:10584 retinitis pigmentosa ISO RGD:735391 D RGD:8547535|PMID:23701314 20140217 RGD 1591130 Pde6g phosphodiesterase 6G gene DOID:10584 retinitis pigmentosa ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20655036|PMID:25741868|PMID:28492532 1591130 Pde6g phosphodiesterase 6G gene DOID:630 genetic disease ISO RGD:735391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591130 Pde6g phosphodiesterase 6G gene DOID:8501 fundus dystrophy ISO RGD:735391 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0080475 psoriasis 2 ISO RGD:1345995 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:24033266|PMID:25741868|PMID:28492532 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:7240710 20191106 OMIM 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:15637719|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18407553|PMID:19099774|PMID:19383612|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:22976788|PMID:23084433|PMID:24314109|PMID:24347096|PMID:24576347|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33673364|PMID:34690354|PMID:34991944|PMID:5542396|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:1059 intellectual disability ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24576347|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9285796 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:12798 mucopolysaccharidosis ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10521831|PMID:10601282|PMID:11182930|PMID:11343308|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:1289 neurodegenerative disease ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:13250 diarrhea ISO RGD:1345995 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:22521419|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30387497 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:25741868|PMID:28492532 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:630 genetic disease ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24347096|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:34991944|PMID:5542396|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:8501 fundus dystrophy ISO RGD:1345995 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:9008086 Developmental Disabilities ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521419|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30248356|PMID:30387497|PMID:30998217|PMID:9536098 1591134 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:9650 pathologic nystagmus ISO RGD:1345995 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:7240710 20190227 OMIM 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:15689454|PMID:17576681|PMID:18256691|PMID:22521418|PMID:22521419|PMID:23648549|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29477734|PMID:8178173|PMID:9536098 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1350189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:12798 mucopolysaccharidosis ISO RGD:1350189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:12801 mucopolysaccharidosis III ISO RGD:1350189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:1289 neurodegenerative disease ISO RGD:1350189 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22521419|PMID:24033266|PMID:24999592|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26203641|PMID:26358359|PMID:28492532|PMID:28887889|PMID:30387497|PMID:9536098 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:630 genetic disease ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22521419|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28166811|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:8893 psoriasis ISO RGD:1350189 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594|PMID:24212883 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:8893 psoriasis ISO RGD:1350189 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Psoriasis 2, pustular PMID:22521418|PMID:22521419 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:9005678 Familial Pityriasis Rubra Pilaris ISO RGD:1350189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial pityriasis rubra pilaris PMID:25741868 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:7240710 20141015 OMIM 1591135 Card14 caspase recruitment domain family, member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Papulosquamous eruptions | ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521418|PMID:22521419|PMID:22703878|PMID:23648549|PMID:24033266|PMID:24999592|PMID:25640679|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26130407|PMID:26203641|PMID:26358359|PMID:27140437|PMID:28135719|PMID:28166811|PMID:28230860|PMID:28295164|PMID:28492532|PMID:28776328|PMID:28887889|PMID:29477734|PMID:29704870|PMID:30248356|PMID:30387497|PMID:30998217|PMID:31971270|PMID:32199921|PMID:8178173|PMID:9536098 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:1059 intellectual disability ISO RGD:1352000 D RGD:10045550|PMID:23376982 20150610 RGD DNA:duplications:cds: (human) 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:1793 pancreatic cancer ISO RGD:1352000 D RGD:10045549|PMID:15796914 20150610 RGD protein:increased expression:serum (human) 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:2752 glycogen storage disease II ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:28492532 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:630 genetic disease ISO RGD:1352000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:7240710 20141015 OMIM 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:8554872 20141021 ClinVar ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome PMID:24360810 1591139 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1591141 Tmem235 transmembrane protein 235 gene DOID:630 genetic disease ISO RGD:4892151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591143 Afmid arylformamidase gene DOID:630 genetic disease ISO RGD:1606470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591144 LOC688282 hypothetical protein LOC688282 gene DOID:630 genetic disease ISO RGD:2299182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591146 Tmc6 transmembrane channel like 6 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1351267 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 1591146 Tmc6 transmembrane channel like 6 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1351267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1591146 Tmc6 transmembrane channel like 6 gene DOID:630 genetic disease ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591146 Tmc6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:7240710 20200226 OMIM 1591146 Tmc6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1591146 Tmc6 transmembrane channel like 6 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1351267 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1591150 Tmc8 transmembrane channel-like 8 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:10084299|PMID:12426567|PMID:16045695|PMID:16199547|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1591150 Tmc8 transmembrane channel-like 8 gene DOID:630 genetic disease ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591150 Tmc8 transmembrane channel-like 8 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1353841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:17576681|PMID:22158547|PMID:25741868|PMID:28492532|PMID:9536098 1591150 Tmc8 transmembrane channel-like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:7240710 20190315 OMIM 1591150 Tmc8 transmembrane channel-like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:10084299|PMID:12426567|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28646613|PMID:9536098 1591154 Rnf157 ring finger protein 157 gene DOID:630 genetic disease ISO RGD:1348356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591154 Rnf157 ring finger protein 157 gene DOID:684 hepatocellular carcinoma ISO RGD:1348356 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1591197 Myl4 myosin, light chain 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:27066836|PMID:28492532|PMID:29080865 1591197 Myl4 myosin, light chain 4 gene DOID:0050700 cardiomyopathy IMP D RGD:40902867|PMID:29080865 20210204 RGD 1591197 Myl4 myosin, light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1350723 D RGD:40902867|PMID:29080865 20210204 RGD human gene in rat model 1591197 Myl4 myosin, light chain 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 1591197 Myl4 myosin, light chain 4 gene DOID:630 genetic disease ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591197 Myl4 myosin, light chain 4 gene DOID:9002195 Atrial Dilation and Standstill susceptibility ISO RGD:1350723 D RGD:40902867|PMID:29080865 20210204 RGD DNA:missense mutation:cds (c.31G>A, p.E11K) (human) 1591197 Myl4 myosin, light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:7240710 20190315 OMIM 1591197 Myl4 myosin, light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25807286|PMID:27066836|PMID:27742809|PMID:28492532|PMID:29080865|PMID:9536098 1591222 Mphosph6 M phase phosphoprotein 6 gene DOID:630 genetic disease ISO RGD:1321401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591241 Srrt serrate, RNA effector molecule gene DOID:3068 glioblastoma ISO RGD:1604811 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30542699 1591241 Srrt serrate, RNA effector molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604811 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591241 Srrt serrate, RNA effector molecule gene DOID:630 genetic disease ISO RGD:1604811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591286 Cdhr3 cadherin-related family member 3 gene DOID:0080600 COVID-19 ISO RGD:1603532 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1591286 Cdhr3 cadherin-related family member 3 gene DOID:10754 otitis media ISO RGD:1603532 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media 1591286 Cdhr3 cadherin-related family member 3 gene DOID:2841 asthma ISO RGD:1603532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 1591286 Cdhr3 cadherin-related family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603532 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591286 Cdhr3 cadherin-related family member 3 gene DOID:630 genetic disease ISO RGD:1603532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591294 Gstt4 glutathione S-transferase, theta 4 gene DOID:5419 schizophrenia ISO RGD:1602006 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1591316 Supt3h SPT3 homolog, SAGA and STAGA complex component gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1313449 D RGD:8554872 20191231 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:23290074 1591316 Supt3h SPT3 homolog, SAGA and STAGA complex component gene DOID:13994 cleidocranial dysplasia ISO RGD:1313449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis PMID:25741868|PMID:33987976 1591316 Supt3h SPT3 homolog, SAGA and STAGA complex component gene DOID:630 genetic disease ISO RGD:1313449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347920 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1347920 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1347920 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1347920 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:13938 amenorrhea ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:1923 disorder of sexual development ISO RGD:1347920 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:303 substance-related disorder ISO RGD:1347920 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:5419 schizophrenia ISO RGD:1347920 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1347920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:9002189 High Myopia ISO RGD:1347920 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 1591318 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1347920 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 1591321 Gcsam germinal center-associated, signaling and motility gene DOID:630 genetic disease ISO RGD:1343482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:2340 craniosynostosis ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:630 genetic disease ISO RGD:1351030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:9269 maple syrup urine disease ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1591322 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 1591333 LOC685680 similar to TPA-induced transmembrane protein gene DOID:630 genetic disease ISO RGD:1606226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591333 LOC685680 similar to TPA-induced transmembrane protein gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:7240710 20230104 OMIM 1591333 LOC685680 similar to TPA-induced transmembrane protein gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 15 PMID:32336749|PMID:34309526 1591334 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318408 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1591334 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1826 epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 1591334 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1591334 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:630 genetic disease ISO RGD:1318408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591341 Krt78 keratin 78 gene DOID:630 genetic disease ISO RGD:1606944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591344 Spata45-ps1 spermatogenesis associated 45, pseudogene 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606701 D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591344 Spata45-ps1 spermatogenesis associated 45, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1606701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591344 Spata45-ps1 spermatogenesis associated 45, pseudogene 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606701 D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591349 Dnal1 dynein, axonemal, light chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1320134 D RGD:8554872 20151110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:21496787 1591349 Dnal1 dynein, axonemal, light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:7240710 20140911 OMIM 1591349 Dnal1 dynein, axonemal, light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:17576681|PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 1591349 Dnal1 dynein, axonemal, light chain 1 gene DOID:1059 intellectual disability ISO RGD:1320134 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1591349 Dnal1 dynein, axonemal, light chain 1 gene DOID:630 genetic disease ISO RGD:1320134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1591349 Dnal1 dynein, axonemal, light chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:21496787|PMID:24033266|PMID:28492532 1591357 Kti12 KTI12 chromatin associated gene DOID:630 genetic disease ISO RGD:1603926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591367 Ropn1l rhophilin associated tail protein 1-like gene DOID:630 genetic disease ISO RGD:1319640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591379 Smim12 small integral membrane protein 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606189 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1591379 Smim12 small integral membrane protein 12 gene DOID:630 genetic disease ISO RGD:1606189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591392 Prr20e proline rich 20E gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:3322124 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1591392 Prr20e proline rich 20E gene DOID:1059 intellectual disability ISO RGD:3322124 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591393 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1317904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 1591393 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317904 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591393 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:630 genetic disease ISO RGD:1317904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591393 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 1591394 Tp53rka Tp53 tumor protein p53 regulating kinase A gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:7240710 20220309 OMIM 1591394 Tp53rka Tp53 tumor protein p53 regulating kinase A gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 PMID:25741868|PMID:28492532|PMID:28805828|PMID:32581362 1591394 Tp53rka Tp53 tumor protein p53 regulating kinase A gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1317644 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 1591394 Tp53rka Tp53 tumor protein p53 regulating kinase A gene DOID:2234 focal epilepsy ISO RGD:1317644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1591394 Tp53rka Tp53 tumor protein p53 regulating kinase A gene DOID:630 genetic disease ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591394 Tp53rka Tp53 tumor protein p53 regulating kinase A gene DOID:9008086 Developmental Disabilities ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32581362 1591401 Col26a1 collagen type XXVI alpha 1 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345849 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591401 Col26a1 collagen type XXVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1345849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591402 Phldb2 pleckstrin homology-like domain, family B, member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1350676 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 1591402 Phldb2 pleckstrin homology-like domain, family B, member 2 gene DOID:630 genetic disease ISO RGD:1350676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591406 Pfdn2 prefoldin subunit 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1591406 Pfdn2 prefoldin subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349968 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591406 Pfdn2 prefoldin subunit 2 gene DOID:630 genetic disease ISO RGD:1349968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591406 Pfdn2 prefoldin subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349968 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591440 Prr23a1 proline rich 23A, member 1 gene DOID:630 genetic disease ISO RGD:2312708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591460 Twf2 twinfilin actin-binding protein 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1591460 Twf2 twinfilin actin-binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:1312984 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1591460 Twf2 twinfilin actin-binding protein 2 gene DOID:630 genetic disease ISO RGD:1312984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591485 Itih5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606774 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1591485 Itih5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:10283 prostate cancer ISO RGD:1606774 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1591485 Itih5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:630 genetic disease ISO RGD:1606774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591490 Kcmf1 potassium channel modulatory factor 1 gene DOID:630 genetic disease ISO RGD:1315004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591498 Glyctk glycerate kinase gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 1591498 Glyctk glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:7240710 20141015 OMIM 1591498 Glyctk glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: D-Glyceric aciduria PMID:20949620|PMID:25741868|PMID:28492532|PMID:29695758|PMID:4434100 1591498 Glyctk glycerate kinase gene DOID:630 genetic disease ISO RGD:1604750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591507 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:10652 Alzheimer's disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 1591507 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:3652 Leigh disease ISO RGD:1348143 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 1591507 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:1348143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591507 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:700 mitochondrial metabolism disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 1591507 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348143 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591532 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353522 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1591532 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:12849 autistic disorder ISO RGD:1353522 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1591532 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1353522 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 1591532 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605216 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605216 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:3393 coronary artery disease ISO RGD:1605216 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:3393 coronary artery disease ISO RGD:1605216 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:5844 myocardial infarction ISO RGD:1605216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198609 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:630 genetic disease ISO RGD:1605216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:9002545 Odontochondrodysplasia 2 with Hearing Loss and Diabetes ISO RGD:1605216 D RGD:7240710 20210414 OMIM 1591600 Mia3 MIA SH3 domain ER export factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605216 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591606 Ano2 anoctamin 2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1352763 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1591606 Ano2 anoctamin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1591606 Ano2 anoctamin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352763 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1591638 Stpg4 sperm-tail PG-rich repeat containing 4 gene DOID:14671 multiple intestinal atresia ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 1591638 Stpg4 sperm-tail PG-rich repeat containing 4 gene DOID:3883 Lynch syndrome ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28492532|PMID:30374176 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354253 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21308764 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1354253 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1354253 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:10907 microcephaly ISO RGD:1354253 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354253 D RGD:9586019|PMID:22681640 20140924 RGD DNA:snp:intron:IVS1-28343C>A (rs13193457) (human) 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:1712 aortic valve stenosis ISO RGD:1354253 D RGD:9586018|PMID:18805276 20140924 RGD mRNA, protein:decreased expression:ventricle endocardium (human) 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:2377 multiple sclerosis ISO RGD:1354253 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:630 genetic disease ISO RGD:1354253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:7240710 20230222 OMIM 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies PMID:25741868|PMID:33077894|PMID:35887345 1591663 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33077894|PMID:35887345 1591692 Tmem41a transmembrane protein 41a gene DOID:0111546 Currarino syndrome ISO RGD:1352042 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1591692 Tmem41a transmembrane protein 41a gene DOID:630 genetic disease ISO RGD:1352042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591702 Hist1h3b histone cluster 1, H3b gene DOID:630 genetic disease ISO RGD:1349112 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591707 Polr1g RNA polymerase I subunit G gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1606023 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:25741868|PMID:28492532|PMID:33116287 1591707 Polr1g RNA polymerase I subunit G gene DOID:630 genetic disease ISO RGD:1606023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591714 Dazl deleted in azoospermia-like gene DOID:0060417 3p deletion syndrome ISO RGD:1352695 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 1591714 Dazl deleted in azoospermia-like gene DOID:630 genetic disease ISO RGD:1352695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591714 Dazl deleted in azoospermia-like gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1352695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 1591722 Lrrc19 leucine rich repeat containing 19 gene DOID:630 genetic disease ISO RGD:1350270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591723 Haus3 HAUS augmin-like complex, subunit 3 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312658 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 1591723 Haus3 HAUS augmin-like complex, subunit 3 gene DOID:1856 cherubism ISO RGD:1312658 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 1591723 Haus3 HAUS augmin-like complex, subunit 3 gene DOID:630 genetic disease ISO RGD:1312658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591724 Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:7240710 20140911 OMIM 1591724 Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 PMID:16385460|PMID:22709368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29345414 1591724 Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1591724 Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321173 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1591724 Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321173 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:25741868|PMID:31064749 1591724 Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 gene DOID:630 genetic disease ISO RGD:1321173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1591734 Plpp5 phospholipid phosphatase 5 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 1591734 Plpp5 phospholipid phosphatase 5 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 1591734 Plpp5 phospholipid phosphatase 5 gene DOID:607 paraplegia ISO RGD:1607002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1591734 Plpp5 phospholipid phosphatase 5 gene DOID:630 genetic disease ISO RGD:1607002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591735 Trappc6a trafficking protein particle complex subunit 6A gene DOID:630 genetic disease ISO RGD:1601965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591748 Arrdc5 arrestin domain containing 5 gene DOID:630 genetic disease ISO RGD:1353583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591749 Nrbp2 nuclear receptor binding protein 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1591749 Nrbp2 nuclear receptor binding protein 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1591749 Nrbp2 nuclear receptor binding protein 2 gene DOID:4621 holoprosencephaly ISO RGD:1351329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1591749 Nrbp2 nuclear receptor binding protein 2 gene DOID:630 genetic disease ISO RGD:1351329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591752 Pcdhgb5 protocadherin gamma subfamily B, 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1316625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1591752 Pcdhgb5 protocadherin gamma subfamily B, 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1591752 Pcdhgb5 protocadherin gamma subfamily B, 5 gene DOID:630 genetic disease ISO RGD:1316625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591752 Pcdhgb5 protocadherin gamma subfamily B, 5 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1316625 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1591752 Pcdhgb5 protocadherin gamma subfamily B, 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316625 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591752 Pcdhgb5 protocadherin gamma subfamily B, 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1591755 Mbnl2 muscleblind-like splicing regulator 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315628 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1591755 Mbnl2 muscleblind-like splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1315628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591755 Mbnl2 muscleblind-like splicing regulator 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315628 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1591760 Nkpd1 NTPase, KAP family P-loop domain containing 1 gene DOID:630 genetic disease ISO RGD:1323472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591766 Dqx1 DEAQ box RNA-dependent ATPase 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1591766 Dqx1 DEAQ box RNA-dependent ATPase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312375 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1591766 Dqx1 DEAQ box RNA-dependent ATPase 1 gene DOID:543 dystonia ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1591766 Dqx1 DEAQ box RNA-dependent ATPase 1 gene DOID:630 genetic disease ISO RGD:1312375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591766 Dqx1 DEAQ box RNA-dependent ATPase 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1557526 D RGD:13592920 20190516 MouseDO 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1343708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1343708 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1343708 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1343708 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1343708 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1343708 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1343708 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343708 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343708 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:7240710 20210224 OMIM 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 PMID:11353400|PMID:25232744|PMID:25741868|PMID:28492532|PMID:30250039 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1343708 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 1591773 Tbr1 T-box brain transcription factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343708 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1319563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10862081|PMID:21031596|PMID:28492532|PMID:31674007|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050952 spastic ataxia ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10862081|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319563 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319563 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1319563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9683594|PMID:9700193|PMID:10862081 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1319563 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:7240710 20180425 OMIM 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319563 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:630 genetic disease ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862081|PMID:16199547|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319563 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:7240710 20140911 OMIM 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:8982949|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319563 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:19492091|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26477546|PMID:2723085|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:31674007|PMID:34000440|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9683594|PMID:9700193|PMID:10862081|PMID:26319495 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9536098|PMID:9683594|PMID:9700193 1591776 Pex10 peroxisomal biogenesis factor 10 gene DOID:906 peroxisomal disease ISO RGD:1607093 D RGD:13207455|PMID:25176044 20170801 RGD 1591777 Aup1 AUP1, lipid droplet regulating VLDL assembly factor gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1602731 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1591777 Aup1 AUP1, lipid droplet regulating VLDL assembly factor gene DOID:543 dystonia ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1591777 Aup1 AUP1, lipid droplet regulating VLDL assembly factor gene DOID:630 genetic disease ISO RGD:1602731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591777 Aup1 AUP1, lipid droplet regulating VLDL assembly factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1591777 Aup1 AUP1, lipid droplet regulating VLDL assembly factor gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1602731 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:18401856|PMID:18790661 1591781 Rsu1 Ras suppressor protein 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313402 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1591781 Rsu1 Ras suppressor protein 1 gene DOID:11476 osteoporosis ISO RGD:1313402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1591781 Rsu1 Ras suppressor protein 1 gene DOID:630 genetic disease ISO RGD:1313402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591781 Rsu1 Ras suppressor protein 1 gene DOID:9001341 Chloracne ISO RGD:1313402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1591785 Pappa2 pappalysin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312133 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1591785 Pappa2 pappalysin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312133 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591785 Pappa2 pappalysin 2 gene DOID:630 genetic disease ISO RGD:1312133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591785 Pappa2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:7240710 20211103 OMIM 1591785 Pappa2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, Dauber-Argente type PMID:25741868|PMID:26902202|PMID:34272725 1591785 Pappa2 pappalysin 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312133 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1591785 Pappa2 pappalysin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312133 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591792 Mark4 microtubule affinity regulating kinase 4 gene DOID:630 genetic disease ISO RGD:1321076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591795 C1ql3 complement C1q like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322092 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1591795 C1ql3 complement C1q like 3 gene DOID:630 genetic disease ISO RGD:1322092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591796 Hist1h2bc histone cluster 1, H2bc gene DOID:1540 parathyroid carcinoma ISO RGD:1343213 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1591796 Hist1h2bc histone cluster 1, H2bc gene DOID:630 genetic disease ISO RGD:1343213 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591796 Hist1h2bc histone cluster 1, H2bc gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343213 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1591830 Fam199x family with sequence similarity 199, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348985 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1591830 Fam199x family with sequence similarity 199, X-linked gene DOID:12849 autistic disorder ISO RGD:1348985 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1591830 Fam199x family with sequence similarity 199, X-linked gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1348985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 1591830 Fam199x family with sequence similarity 199, X-linked gene DOID:630 genetic disease ISO RGD:1348985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591839 Sox3 SRY-box transcription factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347884 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1591839 Sox3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:7240710 20151209 OMIM 1591839 Sox3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Panhypopituitarism, X-linked PMID:15800844|PMID:25741868|PMID:28492532 1591839 Sox3 SRY-box transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1347884 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1591839 Sox3 SRY-box transcription factor 3 gene DOID:10908 hydrocephalus ISS RGD:11333 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 1591839 Sox3 SRY-box transcription factor 3 gene DOID:12259 hemophilia B ISO RGD:1347884 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 1591839 Sox3 SRY-box transcription factor 3 gene DOID:12849 autistic disorder ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:23757202|PMID:25741868|PMID:28492532|PMID:30208311 1591839 Sox3 SRY-box transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347884 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1591839 Sox3 SRY-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1347884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21289259|PMID:25741868|PMID:28492532 1591839 Sox3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:7240710 20151209 OMIM 1591839 Sox3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency PMID:12428212|PMID:21289259|PMID:23757202|PMID:25741868|PMID:28492532|PMID:8826446 1591839 Sox3 SRY-box transcription factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1347884 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:23757202|PMID:25741868|PMID:28492532 1591839 Sox3 SRY-box transcription factor 3 gene DOID:9004048 X-Linked Mental Retardation with Isolated Growth Hormone Deficiency ISO RGD:1347884 D RGD:11535974|PMID:12428212 20160927 RGD DNA:duplication:cds:c.712_744dup (human) 1591839 Sox3 SRY-box transcription factor 3 gene DOID:9406 hypopituitarism ISO RGD:11333 D RGD:1300422|PMID:14981518 20160927 RGD 1591841 Zbtb7c zinc finger and BTB domain containing 7C gene DOID:1059 intellectual disability ISO RGD:1606940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591841 Zbtb7c zinc finger and BTB domain containing 7C gene DOID:630 genetic disease ISO RGD:1606940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591842 Garem1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:1059 intellectual disability ISO RGD:1342843 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591842 Garem1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:630 genetic disease ISO RGD:1342843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591855 Exosc1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:7240710 20210526 OMIM 1591855 Exosc1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F PMID:33463720 1591855 Exosc1 exosome component 1 gene DOID:630 genetic disease ISO RGD:1352643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591860 Slc25a53 solute carrier family 25, member 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603463 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1591860 Slc25a53 solute carrier family 25, member 53 gene DOID:12849 autistic disorder ISO RGD:1603463 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1591860 Slc25a53 solute carrier family 25, member 53 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1603463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 1591860 Slc25a53 solute carrier family 25, member 53 gene DOID:630 genetic disease ISO RGD:1603463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591867 Rrp12 ribosomal RNA processing 12 gene DOID:630 genetic disease ISO RGD:1343951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591873 Bmp8b bone morphogenetic protein 8b gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353706 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1591873 Bmp8b bone morphogenetic protein 8b gene DOID:630 genetic disease ISO RGD:1353706 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591882 Frat2 FRAT regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1350986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591892 Fubp1 far upstream element binding protein 1 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:151361191|PMID:32339054 20220227 RGD mRNA, protein:increased expression:tongue (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:0080199 colorectal carcinoma ISO RGD:1344155 D RGD:151361190|PMID:25030436 20220227 RGD mRNA, protein:increased expression:colorectum (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:0081292 traumatic brain injury IEP D RGD:13673879|PMID:23797733 20180626 RGD 1591892 Fubp1 far upstream element binding protein 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344155 D RGD:151665342|PMID:24192769 20220322 RGD mRNA:increased expression:stomach (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:10534 stomach cancer treatment ISO RGD:1344155 D RGD:151361189|PMID:28667493 20220227 RGD 1591892 Fubp1 far upstream element binding protein 1 gene DOID:11446 sciatic neuropathy IEP D RGD:13673880|PMID:23939805 20180626 RGD 1591892 Fubp1 far upstream element binding protein 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1344155 D RGD:151361193|PMID:27157613 20220227 RGD protein:increased expression:breast (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer ISO RGD:1344155 D RGD:151361195|PMID:30008853 20220227 RGD protein:increased expression:epithelium of female gonad (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer exacerbates ISO RGD:1344155 D RGD:151665180|PMID:29113212 20220315 RGD protein:increased expression:epithelium of female gonad (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1344155 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344155 D RGD:151361197|PMID:32481602 20220227 RGD mRNA:increased expression:brain (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1344155 D RGD:151361197|PMID:32481602 20220227 RGD mRNA:increased expression:pancreatic duct (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344155 D RGD:151361197|PMID:32481602 20220227 RGD mRNA:increased expression:esophagus (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:151361192|PMID:26490982 20220227 RGD protein:increased expression:esophagus (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1344155 D RGD:151361197|PMID:32481602 20220227 RGD mRNA:decreased expression:lung (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344155 D RGD:151361197|PMID:32481602 20220227 RGD mRNA:decreased expression:lung (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1344155 D RGD:151361196|PMID:25995247 20220227 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:630 genetic disease ISO RGD:1344155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591892 Fubp1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344155 D RGD:151361196|PMID:25995247 20220227 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1344155 D RGD:151361194|PMID:19637194 20220227 RGD human cell line in a mouse model 1591892 Fubp1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1344155 D RGD:151361188|PMID:31587040 20220227 RGD mRNA:increased expression:liver (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344155 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 1591892 Fubp1 far upstream element binding protein 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1344155 D RGD:151361197|PMID:32481602 20220227 RGD mRNA:increased expression:oral cavity (human) 1591892 Fubp1 far upstream element binding protein 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1344155 D RGD:11343512|PMID:26469968 20220227 RGD protein:increased expression:nasopharynx (human) 1591893 Zdhhc16 zinc finger DHHC-type palmitoyltransferase 16 gene DOID:630 genetic disease ISO RGD:1604262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:0050545 visceral heterotaxy ISO RGD:1605606 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:7240710 20190315 OMIM 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 PMID:25741868|PMID:28492532|PMID:29727692|PMID:29727693 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:1059 intellectual disability ISO RGD:1605606 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:12704 ataxia telangiectasia ISO RGD:1605606 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1591894 Cfap300 cilia and flagella associated protein 300 gene DOID:758 situs inversus ISO RGD:1605606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1591895 Tctn2 tectonic family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1605624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:24033266|PMID:25118024|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:28771248|PMID:31428121|PMID:9536098 1591895 Tctn2 tectonic family member 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 1591895 Tctn2 tectonic family member 2 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1605624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25741868|PMID:26729329|PMID:28492532|PMID:31428121 1591895 Tctn2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:7240710 20150603 OMIM 1591895 Tctn2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:31428121|PMID:9536098 1591895 Tctn2 tectonic family member 2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1605624 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:25741868 1591895 Tctn2 tectonic family member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:28492532 1591895 Tctn2 tectonic family member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:16199547|PMID:17576681|PMID:21565611|PMID:22331178|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:9536098 1591895 Tctn2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:7240710 20151209 OMIM 1591895 Tctn2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:25118024|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 1591895 Tctn2 tectonic family member 2 gene DOID:10907 microcephaly ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1591895 Tctn2 tectonic family member 2 gene DOID:630 genetic disease ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1591895 Tctn2 tectonic family member 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1605624 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:28492532 1591896 Cox6b2 cytochrome c oxidase subunit 6B2 gene DOID:630 genetic disease ISO RGD:1349779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591897 Ube2d2 ubiquitin-conjugating enzyme E2D 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:69475 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1591897 Ube2d2 ubiquitin-conjugating enzyme E2D 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1591897 Ube2d2 ubiquitin-conjugating enzyme E2D 2 gene DOID:630 genetic disease ISO RGD:69475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591897 Ube2d2 ubiquitin-conjugating enzyme E2D 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69475 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1591897 Ube2d2 ubiquitin-conjugating enzyme E2D 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1591898 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:13580 cholestasis ISO RGD:1602472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1591898 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:630 genetic disease ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30626930|PMID:32333439 1591898 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:7240710 20190315 OMIM 1591898 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient PMID:25741868|PMID:28132689|PMID:28492532|PMID:28794131|PMID:28892570|PMID:30139987|PMID:30626930|PMID:32333439|PMID:9159748 1591898 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 1591915 Mrgprb2 MAS-related GPR, member B2 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1605552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 1591915 Mrgprb2 MAS-related GPR, member B2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1605552 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1591915 Mrgprb2 MAS-related GPR, member B2 gene DOID:1059 intellectual disability ISO RGD:1605552 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591915 Mrgprb2 MAS-related GPR, member B2 gene DOID:630 genetic disease ISO RGD:1605552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591925 Golga4 golgin A4 gene DOID:37 skin disease ISO RGD:1352947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1591925 Golga4 golgin A4 gene DOID:630 genetic disease ISO RGD:1352947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591925 Golga4 golgin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1591925 Golga4 golgin A4 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1591925 Golga4 golgin A4 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1352947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 1591926 Cmtm7 CKLF-like MARVEL transmembrane domain containing 7 gene DOID:630 genetic disease ISO RGD:1313855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:7240710 20130731 OMIM 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cataract 12 multiple types PMID:10729115|PMID:12573667|PMID:14638724|PMID:21836522|PMID:25741868|PMID:28492532 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:12712 nephronophthisis ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:630 genetic disease ISO RGD:1347093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:83 cataract ISO RGD:1347093 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:83 cataract susceptibility ISO RGD:1347093 D RGD:1600516|PMID:10729115 20200804 RGD protein:missense mutation:exon:p.R287W (human) 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347093 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1591927 Bfsp2 beaded filament structural protein 2 gene DOID:9270 alkaptonuria ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1591928 Slc25a36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:7240710 20230215 OMIM 1591928 Slc25a36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 PMID:34576089|PMID:34971397 1591928 Slc25a36 solute carrier family 25 member 36 gene DOID:630 genetic disease ISO RGD:1605658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591930 Minar1 membrane integral NOTCH2 associated receptor 1 gene DOID:2717 Bloom syndrome ISO RGD:1604043 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1591930 Minar1 membrane integral NOTCH2 associated receptor 1 gene DOID:630 genetic disease ISO RGD:1604043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591930 Minar1 membrane integral NOTCH2 associated receptor 1 gene DOID:9256 colorectal cancer ISO RGD:1604043 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1591931 Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1314135 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:16123401|PMID:17546029 1591931 Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 gene DOID:630 genetic disease ISO RGD:1314135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591931 Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1591931 Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 gene DOID:9269 maple syrup urine disease ISO RGD:1314135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 1591932 C2cd4b C2 calcium-dependent domain containing 4B gene DOID:11372 megacolon ISO RGD:1604924 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1591932 C2cd4b C2 calcium-dependent domain containing 4B gene DOID:2717 Bloom syndrome ISO RGD:1604924 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1591932 C2cd4b C2 calcium-dependent domain containing 4B gene DOID:630 genetic disease ISO RGD:1604924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591932 C2cd4b C2 calcium-dependent domain containing 4B gene DOID:9256 colorectal cancer ISO RGD:1604924 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1591932 C2cd4b C2 calcium-dependent domain containing 4B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604924 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 1591937 Tbc1d13 TBC1 domain family, member 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1591937 Tbc1d13 TBC1 domain family, member 13 gene DOID:630 genetic disease ISO RGD:1318412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351614 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080600 COVID-19 ISO RGD:1351614 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0081097 Rafiq syndrome ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351614 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:3652 Leigh disease ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1591938 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:630 genetic disease ISO RGD:1351614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:0050777 Joubert syndrome ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:0081097 Rafiq syndrome ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:1826 epilepsy ISO RGD:1604888 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 1591939 Nrarp Notch-regulated ankyrin repeat protein gene DOID:9007502 Brain Neoplasms ISO RGD:1604888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 1591943 Lrriq3 leucine-rich repeats and IQ motif containing 3 gene DOID:630 genetic disease ISO RGD:1603911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591946 Stpg2 sperm-tail PG-rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1602169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591949 Dnajb14 DnaJ heat shock protein family (Hsp40) member B14 gene DOID:630 genetic disease ISO RGD:1605332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591971 Psme4 proteasome activator subunit 4 gene DOID:0050545 visceral heterotaxy ISS RGD:1557625 D RGD:13592920 20210218 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1591971 Psme4 proteasome activator subunit 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1591971 Psme4 proteasome activator subunit 4 gene DOID:630 genetic disease ISO RGD:1345096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591975 Sun3 Sad1 and UNC84 domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352324 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591975 Sun3 Sad1 and UNC84 domain containing 3 gene DOID:630 genetic disease ISO RGD:1352324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591976 Hus1 HUS1 checkpoint clamp component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318030 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1591976 Hus1 HUS1 checkpoint clamp component gene DOID:630 genetic disease ISO RGD:1318030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591977 Impact impact RWD domain protein gene DOID:1059 intellectual disability ISO RGD:1605062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1591977 Impact impact RWD domain protein gene DOID:630 genetic disease ISO RGD:1605062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591979 Kctd10 potassium channel tetramerization domain containing 10 gene DOID:630 genetic disease ISO RGD:1347079 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591981 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:0050553 JMP syndrome ISO RGD:1349813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1591981 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:11372 megacolon ISO RGD:1349813 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1591981 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:630 genetic disease ISO RGD:1349813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591981 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:9538 multiple myeloma ISO RGD:1349813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 1591983 C4b complement C4B (Chido blood group) gene DOID:0050553 JMP syndrome ISO RGD:1605129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1591983 C4b complement C4B (Chido blood group) gene DOID:0060298 complement component 4B deficiency ISO RGD:1605129 D RGD:7240710 20171011 OMIM 1591983 C4b complement C4B (Chido blood group) gene DOID:0060298 complement component 4B deficiency ISO RGD:1605129 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Complement component 4b deficiency PMID:25741868 1591983 C4b complement C4B (Chido blood group) gene DOID:12361 Graves' disease ISO RGD:1605129 D RGD:5688264|PMID:21943165 20120222 RGD 1591983 C4b complement C4B (Chido blood group) gene DOID:12849 autistic disorder ISO RGD:1605129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15694999|PMID:20452682 1591983 C4b complement C4B (Chido blood group) gene DOID:12849 autistic disorder ISO RGD:1605129 D RGD:5688257|PMID:20452682 20120222 RGD 1591983 C4b complement C4B (Chido blood group) gene DOID:417 autoimmune disease ISO RGD:1605129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20452682 1591983 C4b complement C4B (Chido blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1605129 D RGD:5688259|PMID:19150565 20120222 RGD 1591983 C4b complement C4B (Chido blood group) gene DOID:630 genetic disease ISO RGD:1605129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1591983 C4b complement C4B (Chido blood group) gene DOID:7148 rheumatoid arthritis ISO RGD:1605129 D RGD:5688263|PMID:22076784 20120222 RGD 1591983 C4b complement C4B (Chido blood group) gene DOID:9005236 Drug Eruptions ISO RGD:1605129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 1591983 C4b complement C4B (Chido blood group) gene DOID:9074 systemic lupus erythematosus ISO RGD:1605129 D RGD:5688260|PMID:17503323 20120222 RGD 1591983 C4b complement C4B (Chido blood group) gene DOID:9074 systemic lupus erythematosus ISS RGD:10257 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1592062 Gsdma gasdermin A gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1592062 Gsdma gasdermin A gene DOID:630 genetic disease ISO RGD:1347779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592067 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:7240710 20130221 OMIM 1592067 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck corneal dystrophy PMID:15902656|PMID:18558518|PMID:23288988|PMID:25741868|PMID:26396486|PMID:28492532 1592067 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:14557 primary pulmonary hypertension ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1592067 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:630 genetic disease ISO RGD:1313818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592067 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:8778 Crohn's disease ISS RGD:1313819 D RGD:13592920 20180518 MouseDO 1592067 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313818 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1346029 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:0080600 COVID-19 ISO RGD:1346029 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:12849 autistic disorder ISO RGD:1346029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18384058 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:543 dystonia ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:630 genetic disease ISO RGD:1346029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592069 Rab11fip5 RAB11 family interacting protein 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1592073 Dach1 dachshund family transcription factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606339 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1592073 Dach1 dachshund family transcription factor 1 gene DOID:630 genetic disease ISO RGD:1606339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592076 Psme2-ps1 proteasome activator subunit 2, pseudogene 1 gene DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170324 RGD 1592078 Sp2 Sp2 transcription factor gene DOID:630 genetic disease ISO RGD:1347414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592079 Mmd monocyte to macrophage differentiation-associated gene DOID:630 genetic disease ISO RGD:1346726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592079 Mmd monocyte to macrophage differentiation-associated gene DOID:9074 systemic lupus erythematosus ISO RGD:1346726 D RGD:155630630|PMID:31684818 20221026 RGD associated with Pregnancy Complications;mRNA:increased expression:blood (human) 1592081 Mpo myeloperoxidase gene DOID:0050777 Joubert syndrome ISO RGD:1346384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1592081 Mpo myeloperoxidase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 1592081 Mpo myeloperoxidase gene DOID:0060180 colitis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 1592081 Mpo myeloperoxidase gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1346384 D RGD:7174701|PMID:17896805 20121115 RGD DNA:polymorphism: :−463G > A (human) 1592081 Mpo myeloperoxidase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:1346384 D RGD:7240710 20230517 OMIM 1592081 Mpo myeloperoxidase gene DOID:0081292 traumatic brain injury ISO RGD:1346384 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 1592081 Mpo myeloperoxidase gene DOID:10247 pleurisy ISO RGD:10916 D RGD:5130991|PMID:11577999 20110419 RGD protein:increased activity:lung 1592081 Mpo myeloperoxidase gene DOID:1059 intellectual disability ISO RGD:1346384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1592081 Mpo myeloperoxidase gene DOID:10652 Alzheimer's disease ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15023809 1592081 Mpo myeloperoxidase gene DOID:10652 Alzheimer's disease ISO RGD:1346384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to PMID:11087769|PMID:12915675|PMID:15023809|PMID:15108282|PMID:17304047|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:30487145|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:34426522|PMID:6260268|PMID:9766845 1592081 Mpo myeloperoxidase gene DOID:11054 urinary bladder cancer ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729580 1592081 Mpo myeloperoxidase gene DOID:1252 trichuriasis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 1592081 Mpo myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19326902 1592081 Mpo myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:6909169|PMID:12694338 20121113 RGD associated with Kidney Failure, chronic; DNA:SNP: :-463G>A (human) 1592081 Mpo myeloperoxidase gene DOID:1324 lung cancer ISO RGD:1346384 D RGD:5131088|PMID:15718477 20110420 RGD associated with Respiratory Tract Diseases 1592081 Mpo myeloperoxidase gene DOID:1324 lung cancer ISO RGD:1346384 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against, in smokers PMID:11087769|PMID:12915675|PMID:15023809|PMID:17304047 1592081 Mpo myeloperoxidase gene DOID:13619 extrahepatic cholestasis ISO RGD:1346384 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 1592081 Mpo myeloperoxidase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19731237|PMID:23274713 1592081 Mpo myeloperoxidase gene DOID:1470 major depressive disorder ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 1592081 Mpo myeloperoxidase gene DOID:1485 cystic fibrosis ISO RGD:1346384 D RGD:5130986|PMID:20954832 20110419 RGD 1592081 Mpo myeloperoxidase gene DOID:1485 cystic fibrosis severity ISO RGD:1346384 D RGD:5130968|PMID:16883063 20110418 RGD DNA:polymorphism:promoter:-463G>A (human) 1592081 Mpo myeloperoxidase gene DOID:1555 urticaria ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 1592081 Mpo myeloperoxidase gene DOID:1591 renovascular hypertension IEP D RGD:7174698|PMID:19549002 20121115 RGD protein:increased activity:heart, brain, kidney 1592081 Mpo myeloperoxidase gene DOID:161 keratosis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 1592081 Mpo myeloperoxidase gene DOID:161 keratosis susceptibility ISO RGD:1346384 D RGD:9479152|PMID:14580687 20140827 RGD DNA:SNP:promoter:-463G>T(rs2333227)(human) 1592081 Mpo myeloperoxidase gene DOID:1679 cystitis IEP D RGD:7174704|PMID:19418724 20121115 RGD protein:increased activity:bladder 1592081 Mpo myeloperoxidase gene DOID:1793 pancreatic cancer resistance ISO RGD:1346384 D RGD:2317406|PMID:18205184 20100402 RGD DNA:polymorphism:promoter:-463G>A (human) 1592081 Mpo myeloperoxidase gene DOID:1936 atherosclerosis ISO RGD:1346384 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 1592081 Mpo myeloperoxidase gene DOID:2316 brain ischemia ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 1592081 Mpo myeloperoxidase gene DOID:2841 asthma ISO RGD:1346384 D RGD:5130994|PMID:10731862 20110419 RGD protein:increased expression:serum 1592081 Mpo myeloperoxidase gene DOID:2841 asthma susceptibility ISO RGD:1346384 D RGD:5130989|PMID:19544176 20110419 RGD DNA:polymorphism: :−463G > A (human) 1592081 Mpo myeloperoxidase gene DOID:2921 glomerulonephritis ISO RGD:10916 D RGD:7174702|PMID:17267745 20121115 RGD 1592081 Mpo myeloperoxidase gene DOID:2921 glomerulonephritis disease_progression ISO RGD:1346384 D RGD:7174705|PMID:19238910 20121115 RGD 1592081 Mpo myeloperoxidase gene DOID:3021 acute kidney failure IDA D RGD:6909185|PMID:19793022 20121114 RGD 1592081 Mpo myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 1592081 Mpo myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:6909168|PMID:22739978 20121113 RGD DNA:haplotye: : 1592081 Mpo myeloperoxidase gene DOID:3082 interstitial lung disease ISO RGD:1346384 D RGD:5130207|PMID:17643278 20110408 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid 1592081 Mpo myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:5130997|PMID:19491038 20110419 RGD protein:increased activity:plasma 1592081 Mpo myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1346384 D RGD:5130993|PMID:10917466 20110419 RGD protein:increased expression:serum 1592081 Mpo myeloperoxidase gene DOID:4989 pancreatitis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16440434 1592081 Mpo myeloperoxidase gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346384 D RGD:26923907|PMID:19731237 20200512 RGD DNA:SNP:promoter:-463G>A( rs2333227)(human) 1592081 Mpo myeloperoxidase gene DOID:557 kidney disease ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19913069 1592081 Mpo myeloperoxidase gene DOID:630 genetic disease ISO RGD:1346384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592081 Mpo myeloperoxidase gene DOID:684 hepatocellular carcinoma ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 1592081 Mpo myeloperoxidase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346384 D RGD:27095879|PMID:21907168 20200514 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-463G>A(human) 1592081 Mpo myeloperoxidase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1346384 D RGD:26923907|PMID:19731237 20200512 RGD associated with liver cirrhosis; DNA:SNP:promoter:-463G>A( rs2333227)(human) 1592081 Mpo myeloperoxidase gene DOID:7148 rheumatoid arthritis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22450443|PMID:26001728 1592081 Mpo myeloperoxidase gene DOID:783 end stage renal disease disease_progression ISO RGD:1346384 D RGD:6909184|PMID:20638167 20121114 RGD 1592081 Mpo myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 1592081 Mpo myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:5130962|PMID:19483113 20110418 RGD acute lung injury 1592081 Mpo myeloperoxidase gene DOID:8577 ulcerative colitis ISO RGD:1346384 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20380826|PMID:22119283|PMID:24055189 1592081 Mpo myeloperoxidase gene DOID:865 vasculitis ISO RGD:1346384 D RGD:5130969|PMID:21071471 20110418 RGD microscopic polyangiitis 1592081 Mpo myeloperoxidase gene DOID:874 bacterial pneumonia ISO RGD:1346384 D RGD:5130992|PMID:11269653 20110419 RGD protein:increased activity:bronchoalveolar lavage Fluid: 1592081 Mpo myeloperoxidase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:6909148|PMID:22986158 20121109 RGD protein:increased activity:spinal cord 1592081 Mpo myeloperoxidase gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 1592081 Mpo myeloperoxidase gene DOID:9000998 Brain Injuries ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1592081 Mpo myeloperoxidase gene DOID:9001600 Wounds and Injuries ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 1592081 Mpo myeloperoxidase gene DOID:9001708 Hemorrhagic Shock ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 1592081 Mpo myeloperoxidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 1592081 Mpo myeloperoxidase gene DOID:9002315 Kidney Calculi ISO RGD:1346384 D RGD:7174700|PMID:18022927 20121115 RGD protein:increased activity:blood 1592081 Mpo myeloperoxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 1592081 Mpo myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:1346384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloperoxidase deficiency PMID:14980716|PMID:15108282|PMID:17017121|PMID:17384005|PMID:17650507|PMID:18273043|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:27013444|PMID:28492532|PMID:30487145|PMID:31589614|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:33531667|PMID:34426522|PMID:6260268|PMID:7904599|PMID:8142659|PMID:8621627|PMID:9354683|PMID:9468285|PMID:9507022|PMID:9637725|PMID:9766845 1592081 Mpo myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency susceptibility ISO RGD:1346384 D RGD:7240710 20230517 OMIM 1592081 Mpo myeloperoxidase gene DOID:9002669 Hypoxia ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8552434 1592081 Mpo myeloperoxidase gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:152995398|PMID:25720338 20220616 RGD protein:increased activity:brain: 1592081 Mpo myeloperoxidase gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease_progression ISO RGD:1346384 D RGD:7174703|PMID:23085883 20121115 RGD 1592081 Mpo myeloperoxidase gene DOID:9004009 Reperfusion Injury IEP D RGD:5130958|PMID:21470877 20110418 RGD protein:increased activity:lung 1592081 Mpo myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8869312|PMID:10706834|PMID:12024109|PMID:16971220|PMID:19058328|PMID:20863214 1592081 Mpo myeloperoxidase gene DOID:9004484 Sepsis ISO RGD:10916 D RGD:5130966|PMID:18424617 20110418 RGD 1592081 Mpo myeloperoxidase gene DOID:9004610 Acute Lung Injury ISO RGD:10916 D RGD:6909173|PMID:22092133 20121113 RGD associated with Kidney Reperfusion Injury; protein:increased expression:lung 1592081 Mpo myeloperoxidase gene DOID:9005172 Lung Neoplasms ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12111688 1592081 Mpo myeloperoxidase gene DOID:9005236 Drug Eruptions ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 1592081 Mpo myeloperoxidase gene DOID:9005254 Systemic Candidiasis severity ISO RGD:10916 D RGD:40903072|PMID:12085336 20210107 RGD 1592081 Mpo myeloperoxidase gene DOID:9005372 Inflammation ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10407471|PMID:19066340|PMID:19326902|PMID:23371441|PMID:23451061 1592081 Mpo myeloperoxidase gene DOID:9005463 Occupational Diseases ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15576619 1592081 Mpo myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2317971|PMID:18436980 20100504 RGD protein:increased activity:liver: 1592081 Mpo myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 1592081 Mpo myeloperoxidase gene DOID:9005666 Contrast-Induced Nephropathy IDA D RGD:6909183|PMID:20722568 20121114 RGD 1592081 Mpo myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:6909167|PMID:22950848 20121113 RGD protein:increased activity:kidney 1592081 Mpo myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10916 D RGD:7174699|PMID:18055546 20121115 RGD 1592081 Mpo myeloperoxidase gene DOID:9006928 Viral Bronchiolitis ISO RGD:1346384 D RGD:5130995|PMID:7841728 20110419 RGD 1592081 Mpo myeloperoxidase gene DOID:9007102 Myocardial Ischemia ISO RGD:1346384 D RGD:5130961|PMID:21226709 20110418 RGD Acute Coronary Syndrome; protein:increased expression:plasma 1592081 Mpo myeloperoxidase gene DOID:9007156 Enteritis IEP D RGD:6909182|PMID:20950601 20121114 RGD protein:increased activity:intestine mucosa 1592081 Mpo myeloperoxidase gene DOID:9007651 Chronic Bronchitis IEP D RGD:5130990|PMID:11798689 20110419 RGD protein:increased expression:lung 1592081 Mpo myeloperoxidase gene DOID:9007730 Burns IEP D RGD:6909170|PMID:22356815 20121113 RGD protein:increased activity:kidney, lung 1592081 Mpo myeloperoxidase gene DOID:9007730 Burns ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11996850 1592081 Mpo myeloperoxidase gene DOID:936 brain disease ISO RGD:1346384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23593274 1592081 Mpo myeloperoxidase gene DOID:9362 status asthmaticus ISO RGD:1346384 D RGD:5130994|PMID:10731862 20110419 RGD protein:increased expression:serum 1592092 Lmod2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:7240710 20220608 OMIM 1592092 Lmod2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G PMID:25741868|PMID:31517052|PMID:34888509|PMID:35082396 1592092 Lmod2 leiomodin 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1603238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:35082396 1592092 Lmod2 leiomodin 2 gene DOID:12930 dilated cardiomyopathy ISS RGD:1557393 D RGD:13592920 20180518 MouseDO 1592092 Lmod2 leiomodin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603238 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1592092 Lmod2 leiomodin 2 gene DOID:630 genetic disease ISO RGD:1603238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592103 Dsg3 desmoglein 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348238 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 1592103 Dsg3 desmoglein 3 gene DOID:0060851 pemphigus vulgaris ISS RGD:1620126 D RGD:13592920 20180518 MouseDO OMIM:169610 1592103 Dsg3 desmoglein 3 gene DOID:1059 intellectual disability ISO RGD:1348238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1592103 Dsg3 desmoglein 3 gene DOID:630 genetic disease ISO RGD:1348238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592103 Dsg3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:7240710 20210407 OMIM 1592103 Dsg3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa PMID:30528827 1592114 Esd esterase D gene DOID:630 genetic disease ISO RGD:1354034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592114 Esd esterase D gene DOID:8398 osteoarthritis ISO RGD:1354034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1592114 Esd esterase D gene DOID:9002669 Hypoxia ISO RGD:1354034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:0050144 Kartagener syndrome ISO RGD:1605992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21131974 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:0050144 Kartagener syndrome ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:16199547|PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:0050545 visceral heterotaxy ISO RGD:1605992 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:0060041 autism spectrum disorder ISO RGD:1605992 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:7240710 20140911 OMIM 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:16199547|PMID:17576681|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25326637|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31772028|PMID:31879361|PMID:31980526|PMID:9536098 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:12336 male infertility ISO RGD:1605992 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility PMID:24033266|PMID:25741868|PMID:28492532 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:2752 glycogen storage disease II ISO RGD:1605992 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:630 genetic disease ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:758 situs inversus ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1605992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 1592118 Ccdc40 coiled-coil domain containing 40 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23757202|PMID:23891469|PMID:24033266|PMID:24498942|PMID:24518672|PMID:25326637|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31980526|PMID:32502479|PMID:9536098 1592140 Mzt1 mitotic spindle organizing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2300357 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1592140 Mzt1 mitotic spindle organizing protein 1 gene DOID:630 genetic disease ISO RGD:2300357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592168 Siah3 siah E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1603255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592176 H2aj H2A.J histone gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1343634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1592176 H2aj H2A.J histone gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1343634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1592184 C4h12orf71 similar to human chromosome 12 open reading frame 71 gene DOID:630 genetic disease ISO RGD:2302460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592188 Rufy2 RUN and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1312074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592195 Znrf1 zinc and ring finger 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 1592195 Znrf1 zinc and ring finger 1 gene DOID:607 paraplegia ISO RGD:1349961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1592195 Znrf1 zinc and ring finger 1 gene DOID:630 genetic disease ISO RGD:1349961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592195 Znrf1 zinc and ring finger 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349961 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592209 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1354064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1592209 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:2661 myoepithelioma ISO RGD:1354064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1592209 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:630 genetic disease ISO RGD:1354064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592209 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354064 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592212 Med12l mediator complex subunit 12L gene DOID:0050579 glycogen storage disease XV ISO RGD:1352033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1592212 Med12l mediator complex subunit 12L gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1352033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 1592212 Med12l mediator complex subunit 12L gene DOID:1059 intellectual disability ISO RGD:1352033 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 1592212 Med12l mediator complex subunit 12L gene DOID:2213 hemorrhagic disease ISO RGD:1352033 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1592212 Med12l mediator complex subunit 12L gene DOID:630 genetic disease ISO RGD:1352033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1592212 Med12l mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:7240710 20200617 OMIM 1592212 Med12l mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 1592212 Med12l mediator complex subunit 12L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352033 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592212 Med12l mediator complex subunit 12L gene DOID:9008582 Developmental Disease ISO RGD:1352033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1592213 Wdr59 WD repeat domain 59 gene DOID:2565 macular corneal dystrophy ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 1592213 Wdr59 WD repeat domain 59 gene DOID:607 paraplegia ISO RGD:1605950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1592213 Wdr59 WD repeat domain 59 gene DOID:630 genetic disease ISO RGD:1605950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592213 Wdr59 WD repeat domain 59 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605950 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592218 Spag17 sperm associated antigen 17 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1601710 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 1592218 Spag17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:7240710 20210707 OMIM 1592218 Spag17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 55 PMID:28548327 1592218 Spag17 sperm associated antigen 17 gene DOID:630 genetic disease ISO RGD:1601710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592218 Spag17 sperm associated antigen 17 gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:1601710 D RGD:11535959|PMID:19893584 20160923 RGD DNA:snp:enhancer:C>G (rs17038182) (human) 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:0050439 Usher syndrome ISO RGD:1604320 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604320 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604320 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:630 genetic disease ISO RGD:1604320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:670 amphetamine abuse ISO RGD:1604320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 1592219 Mtarc1 mitochondrial amidoxime reducing component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604320 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1592221 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1352072 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 1592221 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1352072 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chronic multifocal osteomyelitis 1592221 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:607 paraplegia ISO RGD:1352072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1592221 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:630 genetic disease ISO RGD:1352072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592221 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:856 biotinidase deficiency ISO RGD:1352072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:25741868 1592221 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352072 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592236 Ints13 integrator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1342865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592236 Ints13 integrator complex subunit 13 gene DOID:9001341 Chloracne ISO RGD:1342865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1592263 Stum stum, mechanosensory transduction mediator homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605215 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1592263 Stum stum, mechanosensory transduction mediator homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605215 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1592300 Cnbd1 cyclic nucleotide binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:0111940 immunodeficiency 42 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1316574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:1540 parathyroid carcinoma ISO RGD:1316574 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:5812 MHC class II deficiency ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1316574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592330 Mrps21 mitochondrial ribosomal protein S21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316574 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1592336 Clpsl2 colipase-like 2 gene DOID:0050553 JMP syndrome ISO RGD:1605196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1592336 Clpsl2 colipase-like 2 gene DOID:630 genetic disease ISO RGD:1605196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592340 Sntb2 syntrophin, beta 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1592340 Sntb2 syntrophin, beta 2 gene DOID:630 genetic disease ISO RGD:1318541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592345 Mt2A metallothionein 2A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1592345 Mt2A metallothionein 2A gene DOID:0060496 respiratory allergy ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 1592345 Mt2A metallothionein 2A gene DOID:0080600 COVID-19 ISO RGD:1352146 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1592345 Mt2A metallothionein 2A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1592345 Mt2A metallothionein 2A gene DOID:10584 retinitis pigmentosa IEP D RGD:6483819|PMID:20357188 20120604 RGD mRNA:increased expression:retina (rat) 1592345 Mt2A metallothionein 2A gene DOID:10584 retinitis pigmentosa ISO RGD:1617617 D RGD:6483819|PMID:20357188 20120604 RGD mRNA:increased expression:retina (mouse) 1592345 Mt2A metallothionein 2A gene DOID:10652 Alzheimer's disease IEP D RGD:10412320|PMID:16914836 20151117 RGD mRNA:decreased expression:cerebral cortex (rat) 1592345 Mt2A metallothionein 2A gene DOID:10652 Alzheimer's disease ISO RGD:1617617 D RGD:10412319|PMID:22766972 20151117 RGD 1592345 Mt2A metallothionein 2A gene DOID:1074 kidney failure IEP D RGD:6483854|PMID:16226777 20120608 RGD associated with Cadmium Poisoning;mRNA:increased expression:kidney 1592345 Mt2A metallothionein 2A gene DOID:11054 urinary bladder cancer ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7729958|PMID:16565513 1592345 Mt2A metallothionein 2A gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 1592345 Mt2A metallothionein 2A gene DOID:114 heart disease ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16144979 1592345 Mt2A metallothionein 2A gene DOID:11573 listeriosis ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19576872 1592345 Mt2A metallothionein 2A gene DOID:1222 cartilage disease ISO RGD:1617617 D RGD:6483833|PMID:17606507 20120604 RGD Auricular Chondritis; mRNA:increased expression:ear (mouse) 1592345 Mt2A metallothionein 2A gene DOID:13001 carotid stenosis ISO RGD:1352146 D RGD:6483844|PMID:17622311 20120605 RGD DNA:snp:5' utr:g.+838C>G (human) 1592345 Mt2A metallothionein 2A gene DOID:1561 cognitive disorder ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18226494 1592345 Mt2A metallothionein 2A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1592345 Mt2A metallothionein 2A gene DOID:224 transient cerebral ischemia IEP D RGD:10412650|PMID:10884303 20151118 RGD mRNA:increased expression:cerebral cortex 1592345 Mt2A metallothionein 2A gene DOID:2468 psychotic disorder ISO RGD:1352146 D RGD:6480540|PMID:18992145 20120604 RGD mRNA:increased expression:prefrontal cortex (human) 1592345 Mt2A metallothionein 2A gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1617617 D RGD:6482832|PMID:18000159 20120604 RGD mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) 1592345 Mt2A metallothionein 2A gene DOID:3770 pulmonary fibrosis ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18528683 1592345 Mt2A metallothionein 2A gene DOID:480 movement disease ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 1592345 Mt2A metallothionein 2A gene DOID:571 median neuropathy IEP D RGD:6483815|PMID:22253198 20151118 RGD mRNA:decreased expression:left median nerve (rat) 1592345 Mt2A metallothionein 2A gene DOID:630 genetic disease ISO RGD:1352146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592345 Mt2A metallothionein 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1352146 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:17363595|PMID:28284560 1592345 Mt2A metallothionein 2A gene DOID:784 chronic kidney disease ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 1592345 Mt2A metallothionein 2A gene DOID:8466 retinal degeneration ISO RGD:1617617 D RGD:10412646|PMID:23132798 20151118 RGD mRNA:increased expression:retina 1592345 Mt2A metallothionein 2A gene DOID:8634 prostate carcinoma in situ ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16574721 1592345 Mt2A metallothionein 2A gene DOID:8927 learning disability ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16216453 1592345 Mt2A metallothionein 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14503839 1592345 Mt2A metallothionein 2A gene DOID:9000310 Lung Injury ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18528683 1592345 Mt2A metallothionein 2A gene DOID:9000310 Lung Injury ISO RGD:1617617 D RGD:6483842|PMID:17215068 20120605 RGD mRNA:increased expression:lung (mouse) 1592345 Mt2A metallothionein 2A gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 1592345 Mt2A metallothionein 2A gene DOID:9000998 Brain Injuries IEP D RGD:6483847|PMID:15650329 20120605 RGD mRNA:increased expression:dentate gyrus (rat) 1592345 Mt2A metallothionein 2A gene DOID:9000998 Brain Injuries ISO RGD:1617617 D RGD:6483812|PMID:22363575 20120604 RGD mRNA:increased expression:liver (mouse) 1592345 Mt2A metallothionein 2A gene DOID:9001553 Spinal Cord Compression ISO RGD:1617617 D RGD:6483848|PMID:15592854 20120605 RGD mRNA:increased expression:spinal cord (mouse) 1592345 Mt2A metallothionein 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1592345 Mt2A metallothionein 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574721|PMID:17914565 1592345 Mt2A metallothionein 2A gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:2306905|PMID:16034371 20120611 RGD mRNA:increased expression:cerebral cortex, striatum (rat) 1592345 Mt2A metallothionein 2A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1617617 D RGD:6484112|PMID:19619133 20120606 RGD mRNA:increased expression:brain (mouse) 1592345 Mt2A metallothionein 2A gene DOID:9002955 Nerve Degeneration ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11835189 1592345 Mt2A metallothionein 2A gene DOID:9003936 Cardiomegaly ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11309296 1592345 Mt2A metallothionein 2A gene DOID:9004009 Reperfusion Injury ISO RGD:1617617 D RGD:6483850|PMID:12122050 20120605 RGD mRNA:increased expression:cerebrum (mouse) 1592345 Mt2A metallothionein 2A gene DOID:9004484 Sepsis ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374846 1592345 Mt2A metallothionein 2A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21187089 1592345 Mt2A metallothionein 2A gene DOID:9004610 Acute Lung Injury ISO RGD:1617617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16166738 1592345 Mt2A metallothionein 2A gene DOID:9004634 Cardiac Output, Low ISO RGD:1617617 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 1592345 Mt2A metallothionein 2A gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484135|PMID:10535526 20120611 RGD protein:increased expression:liver (rat) 1592345 Mt2A metallothionein 2A gene DOID:9005930 Endotoxemia IEP D RGD:6483852|PMID:22100509 20120605 RGD mRNA:increased expression:liver (rat) 1592345 Mt2A metallothionein 2A gene DOID:9007480 Hyperoxia ISO RGD:1617617 D RGD:6484136|PMID:8110467 20120611 RGD mRNA:increased expression:lung (mouse) 1592345 Mt2A metallothionein 2A gene DOID:9351 diabetes mellitus ISO RGD:1352146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27122239 1592345 Mt2A metallothionein 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352146 D RGD:6483843|PMID:16518702 20120605 RGD associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human) 1592345 Mt2A metallothionein 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352146 D RGD:6483853|PMID:18349110 20120605 RGD DNA:missense mutation:cds:p.K51R (rs8052394) (human) 1592345 Mt2A metallothionein 2A gene DOID:9669 senile cataract ISO RGD:1352146 D RGD:10412648|PMID:9804143 20151118 RGD 1592346 Slc25a42 solute carrier family 25, member 42 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1604178 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 1592346 Slc25a42 solute carrier family 25, member 42 gene DOID:630 genetic disease ISO RGD:1604178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1592346 Slc25a42 solute carrier family 25, member 42 gene DOID:699 mitochondrial myopathy ISO RGD:1604178 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 1592346 Slc25a42 solute carrier family 25, member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:7240710 20190612 OMIM 1592346 Slc25a42 solute carrier family 25, member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 1592346 Slc25a42 solute carrier family 25, member 42 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1604178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 1592356 Amtn amelotin gene DOID:0080243 amelogenesis imperfecta type 3B ISO RGD:1604908 D RGD:7240710 20190315 OMIM 1592356 Amtn amelotin gene DOID:630 genetic disease ISO RGD:1604908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592356 Amtn amelotin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604908 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:1826 epilepsy ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30345601 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:30345601 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:630 genetic disease ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29310717|PMID:34582790|PMID:35887114 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:674 cleft palate ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30345601 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1352306 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1352306 D RGD:7240710 20150701 OMIM 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:9007958 Hyperphosphatasia with Mental Retardation Syndrome 4 ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 PMID:16199547|PMID:17576681|PMID:22315194|PMID:2443911|PMID:24439110|PMID:25741868|PMID:27120253|PMID:28327575|PMID:28390064|PMID:28492532|PMID:29310717|PMID:29531774|PMID:29620724|PMID:30217754|PMID:30345601|PMID:32845056|PMID:32860008|PMID:34582790|PMID:35887114|PMID:9536098 1592386 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1352306 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30345601 1592387 Tcap titin-cap gene DOID:0050451 Brugada syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 1592387 Tcap titin-cap gene DOID:0050700 cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16911908|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25741868|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:29884292|PMID:30871747|PMID:31303467 1592387 Tcap titin-cap gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 1592387 Tcap titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:7240710 20130221 OMIM 1592387 Tcap titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25326637|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:27055092|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32880476|PMID:35026164 1592387 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:16911908|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28166811|PMID:28492532|PMID:30871747|PMID:31303467 1592387 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16911908|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32233023|PMID:32451364 1592387 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 1592387 Tcap titin-cap gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:12507422|PMID:15582318|PMID:28492532 1592387 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:7240710 20130425 OMIM 1592387 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21520333|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:29797799|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32005491|PMID:32451364|PMID:32761539|PMID:32880476|PMID:9536098 1592387 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25724973|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29797799|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31308319|PMID:31980526|PMID:31983221|PMID:32005491|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32565061|PMID:32588437|PMID:32761539|PMID:32880476|PMID:35026164|PMID:9536098 1592387 Tcap titin-cap gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1348921 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:25741868 1592387 Tcap titin-cap gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16352453|PMID:17097056|PMID:19035361|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:30847666|PMID:31114860|PMID:31980526|PMID:32451364|PMID:32880476|PMID:35026164 1592387 Tcap titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 1592387 Tcap titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 1592387 Tcap titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 1592387 Tcap titin-cap gene DOID:2843 long QT syndrome ISO RGD:1348921 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26636822|PMID:28492532 1592387 Tcap titin-cap gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28771489|PMID:32233023 1592387 Tcap titin-cap gene DOID:630 genetic disease ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1592387 Tcap titin-cap gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 1592387 Tcap titin-cap gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 1592387 Tcap titin-cap gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532|PMID:31983221 1592397 Prr15l proline rich 15-like gene DOID:630 genetic disease ISO RGD:1601848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592405 B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 gene DOID:630 genetic disease ISO RGD:1354479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592405 B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:7240710 20220209 OMIM 1592405 B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: BLOOD GROUP, SID SYSTEM PMID:28492532|PMID:31367682 1592405 B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 gene DOID:9005170 polyagglutination ISO RGD:1354479 D RGD:7240710 20230505 OMIM 1592414 Rsad1 radical S-adenosyl methionine domain containing 1 gene DOID:630 genetic disease ISO RGD:1347932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592427 Mbtd1 mbt domain containing 1 gene DOID:630 genetic disease ISO RGD:1348935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592433 C10h17orf67 similar to human chromosome 17 open reading frame 67 gene DOID:0050777 Joubert syndrome ISO RGD:1603500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1592448 Hsf5 heat shock transcription factor 5 gene DOID:0050777 Joubert syndrome ISO RGD:1604244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1592448 Hsf5 heat shock transcription factor 5 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1604244 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 1592448 Hsf5 heat shock transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1604244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1592448 Hsf5 heat shock transcription factor 5 gene DOID:630 genetic disease ISO RGD:1604244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592450 Tmem239 transmembrane 239 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347173 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1592450 Tmem239 transmembrane 239 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1592450 Tmem239 transmembrane 239 gene DOID:630 genetic disease ISO RGD:1347173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1604813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1604813 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:12271 aniridia ISO RGD:1604813 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9001793 Generalized Epilepsy ISO RGD:1604813 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:7240710 20140903 OMIM 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:21937992|PMID:22865833|PMID:25741868|PMID:26374271|PMID:26607181|PMID:28492532|PMID:30006060|PMID:31074943|PMID:32860008 1592474 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1604813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:26374271|PMID:29619239|PMID:30006060|PMID:30426380|PMID:31074943 1592508 Cimip4 ciliary microtubule inner protein 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1592508 Cimip4 ciliary microtubule inner protein 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1606105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 1592508 Cimip4 ciliary microtubule inner protein 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1592508 Cimip4 ciliary microtubule inner protein 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1592508 Cimip4 ciliary microtubule inner protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1592508 Cimip4 ciliary microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1606105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592539 Exoc3l2 exocyst complex component 3-like 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605316 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 1592539 Exoc3l2 exocyst complex component 3-like 2 gene DOID:630 genetic disease ISO RGD:1605316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1592568 Prr33 proline rich 33 gene DOID:0080773 delta beta-thalassemia ISO RGD:9588192 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080074 neural tube defect ISO RGD:737409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716750 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080773 delta beta-thalassemia ISO RGD:737409 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:11832 visual epilepsy IEP D RGD:5133692|PMID:15725396 20110623 RGD protein:increased expression:dentate gyrus (rat) 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737409 D RGD:127229933|PMID:19002265 20210603 RGD 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3910 lung adenocarcinoma ISO RGD:737409 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3948 adrenocortical carcinoma ISO RGD:737409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22547773 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:630 genetic disease ISO RGD:737409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:684 hepatocellular carcinoma ISO RGD:737409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9000918 Disease Progression ISO RGD:737409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2316863|PMID:15224347 20100302 RGD 1592569 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9006205 Animal Disease Models ISO RGD:737409 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1592570 Zfp780b zinc finger protein 780B gene DOID:630 genetic disease ISO RGD:30308386 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592574 Zfp334 zinc finger protein 334 gene DOID:2234 focal epilepsy ISO RGD:1318499 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1592574 Zfp334 zinc finger protein 334 gene DOID:630 genetic disease ISO RGD:1318499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592581 Ppil6 peptidylprolyl isomerase like 6 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1352974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1592581 Ppil6 peptidylprolyl isomerase like 6 gene DOID:630 genetic disease ISO RGD:1352974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592588 Mogat3 monoacylglycerol O-acyltransferase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350436 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1592588 Mogat3 monoacylglycerol O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1350436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592588 Mogat3 monoacylglycerol O-acyltransferase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1350436 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 1592603 Mcrip2 MAPK regulated co-repressor interacting protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1592603 Mcrip2 MAPK regulated co-repressor interacting protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1592603 Mcrip2 MAPK regulated co-repressor interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1346193 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1592603 Mcrip2 MAPK regulated co-repressor interacting protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346193 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1592603 Mcrip2 MAPK regulated co-repressor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1346193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592604 Krtap5-8 keratin associated protein 5-8 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1605356 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 1592604 Krtap5-8 keratin associated protein 5-8 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605356 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1592604 Krtap5-8 keratin associated protein 5-8 gene DOID:1059 intellectual disability ISO RGD:1605356 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1592604 Krtap5-8 keratin associated protein 5-8 gene DOID:630 genetic disease ISO RGD:1605356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349733 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:3652 Leigh disease ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1592609 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:630 genetic disease ISO RGD:1349733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592623 Frg2 FSHD region gene 2 gene DOID:2229 factor XI deficiency ISO RGD:1606060 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 1592623 Frg2 FSHD region gene 2 gene DOID:630 genetic disease ISO RGD:1606060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592623 Frg2 FSHD region gene 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606060 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592643 Clgn calmegin gene DOID:630 genetic disease ISO RGD:1343269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592643 Clgn calmegin gene DOID:9007661 Dwarfism ISO RGD:1343269 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1592646 Prr23d1 proline rich 23 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592650 Kdm7a lysine demethylase 7A gene DOID:0080690 RASopathy ISO RGD:1606499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 1592650 Kdm7a lysine demethylase 7A gene DOID:1909 melanoma ISO RGD:1606499 D RGD:9587848|PMID:22143793 20141021 RGD human gene in a mouse model 1592650 Kdm7a lysine demethylase 7A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606499 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1592650 Kdm7a lysine demethylase 7A gene DOID:630 genetic disease ISO RGD:1606499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592654 Syt14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:7240710 20140903 OMIM 1592654 Syt14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 PMID:21835308|PMID:25741868|PMID:26467025 1592654 Syt14 synaptotagmin 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1345341 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1592654 Syt14 synaptotagmin 14 gene DOID:630 genetic disease ISO RGD:1345341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 1592654 Syt14 synaptotagmin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1345341 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1592654 Syt14 synaptotagmin 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345341 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1592673 Mtif3 mitochondrial translational initiation factor 3 gene DOID:630 genetic disease ISO RGD:1604201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1351272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:7240710 20190315 OMIM 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALWADEI SYNDROME | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 PMID:25741868|PMID:27612186|PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1351272 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1351272 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1351272 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1592688 Rusc2 RUN and SH3 domain containing 2 gene DOID:9870 galactosemia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1592689 Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 gene DOID:630 genetic disease ISO RGD:1347837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592713 Rbm15 RNA binding motif protein 15 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 1592713 Rbm15 RNA binding motif protein 15 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 1592713 Rbm15 RNA binding motif protein 15 gene DOID:12849 autistic disorder ISO RGD:1343999 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1592713 Rbm15 RNA binding motif protein 15 gene DOID:630 genetic disease ISO RGD:1343999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592713 Rbm15 RNA binding motif protein 15 gene DOID:769 neuroblastoma ISO RGD:1343999 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 1592737 Or51d1 olfactory receptor family 51 subfamily D member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1592737 Or51d1 olfactory receptor family 51 subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1344581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592746 Aida axin interactor, dorsalization associated gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1603969 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 1592746 Aida axin interactor, dorsalization associated gene DOID:0080600 COVID-19 ISO RGD:1603969 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1592746 Aida axin interactor, dorsalization associated gene DOID:1540 parathyroid carcinoma ISO RGD:1603969 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1592746 Aida axin interactor, dorsalization associated gene DOID:630 genetic disease ISO RGD:1603969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592746 Aida axin interactor, dorsalization associated gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1592746 Aida axin interactor, dorsalization associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603969 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1592757 Med18 mediator complex subunit 18 gene DOID:630 genetic disease ISO RGD:1347067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592767 Nudt13 nudix hydrolase 13 gene DOID:630 genetic disease ISO RGD:1349007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592776 Isx intestine-specific homeobox gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1605896 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 1592776 Isx intestine-specific homeobox gene DOID:630 genetic disease ISO RGD:1605896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592777 Tmx3 thioredoxin-related transmembrane protein 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348440 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 1592777 Tmx3 thioredoxin-related transmembrane protein 3 gene DOID:11372 megacolon ISO RGD:1348440 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1592777 Tmx3 thioredoxin-related transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1348440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592777 Tmx3 thioredoxin-related transmembrane protein 3 gene DOID:8445 intestinal volvulus ISO RGD:1348440 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1592777 Tmx3 thioredoxin-related transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348440 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1592777 Tmx3 thioredoxin-related transmembrane protein 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348440 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1592780 Zfp551 zinc finger protein 551 gene DOID:630 genetic disease ISO RGD:1348729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592807 Wasf3 WASP family member 3 gene DOID:630 genetic disease ISO RGD:1346468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592807 Wasf3 WASP family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1592807 Wasf3 WASP family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346468 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 1592810 Slc22a16 solute carrier family 22 member 16 gene DOID:0080600 COVID-19 ISO RGD:1344136 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1592810 Slc22a16 solute carrier family 22 member 16 gene DOID:630 genetic disease ISO RGD:1344136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592810 Slc22a16 solute carrier family 22 member 16 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1592823 Phactr4 phosphatase and actin regulator 4 gene DOID:0080600 COVID-19 ISO RGD:1351091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1592823 Phactr4 phosphatase and actin regulator 4 gene DOID:630 genetic disease ISO RGD:1351091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592829 Zfp326 zinc finger protein 326 gene DOID:630 genetic disease ISO RGD:1601703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592835 Rcc1 regulator of chromosome condensation 1 gene DOID:630 genetic disease ISO RGD:1343250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592841 Taf12 TATA-box binding protein associated factor 12 gene DOID:630 genetic disease ISO RGD:1348553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592849 Liph lipase H gene DOID:0110698 hypotrichosis 1 ISO RGD:1320902 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:18830268|PMID:19892526|PMID:20213768|PMID:21352330|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282 1592849 Liph lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:7240710 20171220 OMIM 1592849 Liph lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis 7 PMID:17095700|PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 1592849 Liph lipase H gene DOID:0111546 Currarino syndrome ISO RGD:1320902 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 1592849 Liph lipase H gene DOID:0111572 familial woolly hair syndrome ISO RGD:1320902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23066499 1592849 Liph lipase H gene DOID:4535 hypotrichosis ISO RGD:1320902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23066499 1592849 Liph lipase H gene DOID:4535 hypotrichosis ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 1592849 Liph lipase H gene DOID:630 genetic disease ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1592859 Ct45a9 cancer/testis antigen family 45 member A9 gene DOID:12849 autistic disorder ISO RGD:9587877 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1592872 Ints6l integrator complex subunit 6 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343446 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1592872 Ints6l integrator complex subunit 6 like gene DOID:12849 autistic disorder ISO RGD:1343446 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1592872 Ints6l integrator complex subunit 6 like gene DOID:13501 Moebius syndrome ISO RGD:1343446 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1592872 Ints6l integrator complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1343446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592887 Lysmd4 LysM domain containing 4 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1606711 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 1592887 Lysmd4 LysM domain containing 4 gene DOID:630 genetic disease ISO RGD:1606711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592951 Prss47 serine protease 47 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:9586643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 1592951 Prss47 serine protease 47 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:9586643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 1592951 Prss47 serine protease 47 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:9586643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 1592975 Tceal9 transcription elongation factor A like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352656 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1592975 Tceal9 transcription elongation factor A like 9 gene DOID:12849 autistic disorder ISO RGD:1352656 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1592975 Tceal9 transcription elongation factor A like 9 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352656 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 1592975 Tceal9 transcription elongation factor A like 9 gene DOID:630 genetic disease ISO RGD:1352656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:1059 intellectual disability ISO RGD:2311472 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:12849 autistic disorder ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:1932 Angelman syndrome ISO RGD:2311472 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Angelman syndrome 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:5419 schizophrenia ISO RGD:2311472 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:630 genetic disease ISO RGD:2311472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1592985 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 1592991 Clec12a C-type lectin domain family 12, member A gene DOID:0080600 COVID-19 ISO RGD:1605851 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1592991 Clec12a C-type lectin domain family 12, member A gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1615680 D RGD:41412202|PMID:31451663 20210223 RGD 1592991 Clec12a C-type lectin domain family 12, member A gene DOID:14069 cerebral malaria ameliorates ISO RGD:1615680 D RGD:41412201|PMID:31269448 20210223 RGD 1592991 Clec12a C-type lectin domain family 12, member A gene DOID:630 genetic disease ISO RGD:1605851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1592991 Clec12a C-type lectin domain family 12, member A gene DOID:7148 rheumatoid arthritis ISO RGD:1605851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1593000 Krtap9-1 keratin associated protein 9-1 gene DOID:630 genetic disease ISO RGD:1347378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593006 H2ac12 H2A clustered histone 12 gene DOID:630 genetic disease ISO RGD:1349795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593009 Tceal7 transcription elongation factor A like 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347340 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1593009 Tceal7 transcription elongation factor A like 7 gene DOID:12849 autistic disorder ISO RGD:1347340 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1593009 Tceal7 transcription elongation factor A like 7 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347340 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 1593009 Tceal7 transcription elongation factor A like 7 gene DOID:630 genetic disease ISO RGD:1347340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593009 Tceal7 transcription elongation factor A like 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 1593011 Endou endonuclease, poly(U)-specific gene DOID:630 genetic disease ISO RGD:1604059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593013 Fsip2 fibrous sheath-interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:7240710 20190315 OMIM 1593013 Fsip2 fibrous sheath-interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 34 PMID:25741868|PMID:30137358 1593013 Fsip2 fibrous sheath-interacting protein 2 gene DOID:2843 long QT syndrome ISO RGD:1602400 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1593013 Fsip2 fibrous sheath-interacting protein 2 gene DOID:630 genetic disease ISO RGD:1602400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593013 Fsip2 fibrous sheath-interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602400 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593016 H2bc12 H2B clustered histone 12 gene DOID:630 genetic disease ISO RGD:1353528 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593016 H2bc12 H2B clustered histone 12 gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1353528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 PMID:35202563 1593016 H2bc12 H2B clustered histone 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1353528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 1593018 Snrpd2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:630 genetic disease ISO RGD:1312873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593018 Snrpd2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1312873 D RGD:10766471|PMID:11823543 20160208 RGD 1593036 Mettl1 methyltransferase 1, tRNA methylguanosine gene DOID:630 genetic disease ISO RGD:1352209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1593036 Mettl1 methyltransferase 1, tRNA methylguanosine gene DOID:6846 familial melanoma ISO RGD:1352209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1593044 Arhgap19 Rho GTPase activating protein 19 gene DOID:630 genetic disease ISO RGD:1351019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1346120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1346120 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:1346120 D RGD:7240710 20130731 OMIM 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:17033963|PMID:20435138|PMID:21119709|PMID:21169334|PMID:21741925|PMID:22277967|PMID:22499341|PMID:25037205|PMID:25078778|PMID:25741868|PMID:28074886|PMID:28492532|PMID:29261183|PMID:31267352|PMID:33816677 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:1346120 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17033963|PMID:20435138|PMID:21741925|PMID:22277967|PMID:25037205|PMID:25078778|PMID:25741868|PMID:28492532|PMID:29261183|PMID:33816677 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:423 myopathy ISO RGD:1346120 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Skeletal myopathy 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1346120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17033963|PMID:20435138|PMID:21119709|PMID:21741925|PMID:22277967|PMID:22499341|PMID:25741868|PMID:28492532|PMID:31267352 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:6846 familial melanoma ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 1593058 Tsfm Ts translation elongation factor, mitochondrial gene DOID:9008675 Dyskinesias ISO RGD:1346120 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30297209 1593086 Rtl8a retrotransposon Gag like 8A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603403 D RGD:8554872 20210525 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1593086 Rtl8a retrotransposon Gag like 8A gene DOID:12849 autistic disorder ISO RGD:1603403 D RGD:8554872 20210525 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1321529 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:12930 dilated cardiomyopathy ISO RGD:1321529 D RGD:1581297|PMID:10600520 19990101 RGD 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:2377 multiple sclerosis ISO RGD:1321529 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:289 endometriosis ISO RGD:1321529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:5419 schizophrenia ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:62 aortic valve disease ISS RGD:1321530 D RGD:13592920 20181122 MouseDO 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:630 genetic disease ISO RGD:1321529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:7148 rheumatoid arthritis ISO RGD:1321529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:7240710 20140903 OMIM 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 3 PMID:22883147|PMID:25741868|PMID:28492532|PMID:29924900 1593096 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321529 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:7240710 20130731 OMIM 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 PMID:16199547|PMID:17576681|PMID:20613862|PMID:24033266|PMID:24482476|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26085577|PMID:26467025|PMID:27165006|PMID:27606357|PMID:28492532|PMID:28832565|PMID:29908077|PMID:30564185|PMID:31289639|PMID:31673878|PMID:31785789|PMID:32655478|PMID:32860008|PMID:32989326|PMID:9536098 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:11372 megacolon ISO RGD:1626268 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1626268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17576681|PMID:20613862|PMID:24033266|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26467025|PMID:27606357|PMID:28492532|PMID:28832565|PMID:9536098 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1626268 D RGD:9684952|PMID:20613862 20141210 RGD DNA:mutations: : 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:607 paraplegia ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:630 genetic disease ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 1593125 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:9002189 High Myopia ISO RGD:1626268 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 1593126 Kifbp kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 1593126 Kifbp kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:7240710 20190315 OMIM 1593126 Kifbp kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943 1593126 Kifbp kinesin family binding protein gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 1593126 Kifbp kinesin family binding protein gene DOID:1059 intellectual disability ISO RGD:1317800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 1593126 Kifbp kinesin family binding protein gene DOID:10907 microcephaly ISO RGD:1317800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 1593126 Kifbp kinesin family binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1317800 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 1593126 Kifbp kinesin family binding protein gene DOID:630 genetic disease ISO RGD:1317800 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593126 Kifbp kinesin family binding protein gene DOID:870 neuropathy ISO RGD:1317800 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 1593150 Lrrc29 leucine rich repeat containing 29 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1593150 Lrrc29 leucine rich repeat containing 29 gene DOID:10316 pneumoconiosis ISO RGD:1353942 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 1593150 Lrrc29 leucine rich repeat containing 29 gene DOID:630 genetic disease ISO RGD:1353942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593153 Ccdc184 coiled-coil domain containing 184 gene DOID:630 genetic disease ISO RGD:1605794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:7240710 20140911 OMIM 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:16199547|PMID:16880254|PMID:17576681|PMID:19692703|PMID:20167518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29431110|PMID:29454792|PMID:29969437|PMID:31027832|PMID:34547651|PMID:9536098 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:114 heart disease ISO RGD:1314271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:3265 chronic granulomatous disease ISO RGD:1314271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:19692703|PMID:28492532|PMID:29969437|PMID:34034819 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:630 genetic disease ISO RGD:1314271 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1314271 D RGD:41404710|PMID:17897462 20210204 RGD DNA:polymorphism, SNP:cds (rs729749) (human) 1593157 Ncf4 neutrophil cytosolic factor 4 gene DOID:8778 Crohn's disease ISO RGD:1314271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 1593158 Arhgap39 Rho GTPase activating protein 39 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 1593158 Arhgap39 Rho GTPase activating protein 39 gene DOID:630 genetic disease ISO RGD:1606778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593161 Lix1l limb and CNS expressed 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 1593161 Lix1l limb and CNS expressed 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1350339 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593161 Lix1l limb and CNS expressed 1 like gene DOID:5419 schizophrenia ISO RGD:1350339 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1593161 Lix1l limb and CNS expressed 1 like gene DOID:630 genetic disease ISO RGD:1350339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593161 Lix1l limb and CNS expressed 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350339 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593163 Sprr1a small proline-rich protein 1A gene DOID:0111940 immunodeficiency 42 ISO RGD:1320715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1593163 Sprr1a small proline-rich protein 1A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1593163 Sprr1a small proline-rich protein 1A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1593163 Sprr1a small proline-rich protein 1A gene DOID:1540 parathyroid carcinoma ISO RGD:1320715 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593163 Sprr1a small proline-rich protein 1A gene DOID:1749 squamous cell carcinoma ISO RGD:1320715 D RGD:11554173 20170829 CTD CTD Direct Evidence: marker/mechanism PMID:8617999 1593163 Sprr1a small proline-rich protein 1A gene DOID:2615 papilloma ISO RGD:1320715 D RGD:11554173 20170829 CTD CTD Direct Evidence: marker/mechanism PMID:8617999 1593163 Sprr1a small proline-rich protein 1A gene DOID:5812 MHC class II deficiency ISO RGD:1320715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1593163 Sprr1a small proline-rich protein 1A gene DOID:630 genetic disease ISO RGD:1320715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593163 Sprr1a small proline-rich protein 1A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320715 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312063 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1312063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:630 genetic disease ISO RGD:1312063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593164 Pglyrp3 peptidoglycan recognition protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312063 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593169 Tsc22d2 TSC22 domain family, member 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1593169 Tsc22d2 TSC22 domain family, member 2 gene DOID:630 genetic disease ISO RGD:1602336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593170 Ccdc169 coiled-coil domain containing 169 gene DOID:630 genetic disease ISO RGD:2302126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593180 Slc30a9 solute carrier family 30 member 9 gene DOID:630 genetic disease ISO RGD:1315097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593180 Slc30a9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:7240710 20190315 OMIM 1593180 Slc30a9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Birk-Landau-Perez syndrome PMID:25741868|PMID:28334855|PMID:34716203 1593182 SPATA45 spermatogenesis associated 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606701 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593182 SPATA45 spermatogenesis associated 45 gene DOID:630 genetic disease ISO RGD:1606701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593182 SPATA45 spermatogenesis associated 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606701 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593186 Prss36 serine protease 36 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604524 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1593186 Prss36 serine protease 36 gene DOID:630 genetic disease ISO RGD:1604524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593188 Eng endoglin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1593188 Eng endoglin gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351093 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Juvenile Polyposis PMID:28492532 1593188 Eng endoglin gene DOID:0050855 renal fibrosis IEP D RGD:7248781|PMID:16440600 20130820 RGD associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat) 1593188 Eng endoglin gene DOID:0050855 renal fibrosis ISO RGD:1617632 D RGD:7248783|PMID:15033991 20130820 RGD protein:altered expression:kidney (mouse) 1593188 Eng endoglin gene DOID:0050855 renal fibrosis treatment IDA D RGD:7248782|PMID:15475654 20130820 RGD 1593188 Eng endoglin gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1351093 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12673790|PMID:15879500|PMID:21158752|PMID:23399955|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 1593188 Eng endoglin gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:15879500|PMID:25741868|PMID:28492532|PMID:30120215 1593188 Eng endoglin gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1617632 D RGD:11041564|PMID:24520391 20160324 RGD 1593188 Eng endoglin gene DOID:0060688 arteriovenous malformations of the brain ISS RGD:1617632 D RGD:13592920 20180518 MouseDO OMIM:108010 1593188 Eng endoglin gene DOID:0060688 arteriovenous malformations of the brain disease_progression ISO RGD:1351093 D RGD:11041171|PMID:24876084 20160323 RGD DNA:polymorphism: : 207G>A(human) 1593188 Eng endoglin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1593188 Eng endoglin gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1351093 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1593188 Eng endoglin gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1593188 Eng endoglin gene DOID:0080718 GNE myopathy ISO RGD:1351093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:15266205|PMID:17786384|PMID:22022569 1593188 Eng endoglin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1593188 Eng endoglin gene DOID:10283 prostate cancer severity ISO RGD:1351093 D RGD:7248770|PMID:23262399 20130819 RGD protein:increased expression:tumor, vasculature (human) 1593188 Eng endoglin gene DOID:1037 lymphoid leukemia disease_progression ISO RGD:1351093 D RGD:11041170|PMID:25030442 20160323 RGD 1593188 Eng endoglin gene DOID:10591 pre-eclampsia IEP D RGD:7257530|PMID:22763474 20130822 RGD protein:increased expression:serum (rat) 1593188 Eng endoglin gene DOID:10591 pre-eclampsia ISO RGD:1617632 D RGD:7248768|PMID:23357179 20130819 RGD protein:increased expression:plasma (mouse) 1593188 Eng endoglin gene DOID:10591 pre-eclampsia severity ISO RGD:1351093 D RGD:7248767|PMID:23460287 20130819 RGD protein:increased expression:serum (human) 1593188 Eng endoglin gene DOID:10591 pre-eclampsia treatment IDA D RGD:7257524|PMID:22308016 20130821 RGD 1593188 Eng endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1617632 D RGD:7248777|PMID:20351341 20130820 RGD 1593188 Eng endoglin gene DOID:10763 hypertension IEP D RGD:4892132|PMID:19829664 20130820 RGD mRNA:decreased expression:kidney (rat) 1593188 Eng endoglin gene DOID:10941 intracranial aneurysm ISO RGD:1351093 D RGD:9068941 20220825 RGD PMID:10223461|REF_RGD_ID:1580964 1593188 Eng endoglin gene DOID:11294 arteriovenous malformation ISO RGD:1617632 D RGD:11041564|PMID:24520391 20160324 RGD 1593188 Eng endoglin gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1351093 D RGD:11041184|PMID:8728706 20160323 RGD associated with Telangiectasia, Hereditary Hemorrhagic; 1593188 Eng endoglin gene DOID:12466 secondary hyperparathyroidism ISO RGD:1351093 D RGD:7248778|PMID:18398016 20130820 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:11035216|PMID:16752392 20180105 RGD DNA:mutations: 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:11041169|PMID:15375013 20160323 RGD 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:11041183|PMID:9245986 20160323 RGD DNA:mutations:multiple: 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15115879|PMID:20135064 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:1300352|PMID:15024723 20150304 RGD 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:1601038|PMID:7894484 20070404 RGD HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1617632 D RGD:11041563|PMID:10562296 20160324 RGD 1593188 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia no_association ISO RGD:1351093 D RGD:11041566|PMID:10899246 20160324 RGD 1593188 Eng endoglin gene DOID:13580 cholestasis IEP D RGD:7257529|PMID:21146604 20130822 RGD protein:increased expression:liver (rat) 1593188 Eng endoglin gene DOID:14791 Leber congenital amaurosis ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:15879500|PMID:16470589|PMID:17786384|PMID:22991266|PMID:25741868|PMID:28492532|PMID:31400083|PMID:31455059|PMID:32165824|PMID:32573726 1593188 Eng endoglin gene DOID:1485 cystic fibrosis ISO RGD:1351093 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30806029 1593188 Eng endoglin gene DOID:1612 breast cancer treatment ISO RGD:1351093 D RGD:7248784|PMID:11691802 20130820 RGD human tumor in mouse model 1593188 Eng endoglin gene DOID:1909 melanoma treatment ISO RGD:1617632 D RGD:7248785|PMID:23076642 20130820 RGD 1593188 Eng endoglin gene DOID:3082 interstitial lung disease ISO RGD:1351093 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:25741868|PMID:28492532 1593188 Eng endoglin gene DOID:3393 coronary artery disease severity ISO RGD:1351093 D RGD:7248776|PMID:21667051 20130820 RGD protein:increased expression:plasma (human) 1593188 Eng endoglin gene DOID:3525 middle cerebral artery infarction ISO RGD:1617632 D RGD:11041171|PMID:24876084 20160323 RGD 1593188 Eng endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:7248775|PMID:22204709 20130820 RGD protein:increased expression:tumor, vasculature (human) 1593188 Eng endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:7248780|PMID:16536758 20130820 RGD protein:decreased expression:kidney, tumor (human) 1593188 Eng endoglin gene DOID:6000 congestive heart failure IEP D RGD:7257540|PMID:20156938 20130823 RGD protein:increased expression:heart left ventricle (rat) 1593188 Eng endoglin gene DOID:6000 congestive heart failure treatment IDA D RGD:7257540|PMID:20156938 20130823 RGD 1593188 Eng endoglin gene DOID:630 genetic disease ISO RGD:1351093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15517393|PMID:15879500|PMID:25741868|PMID:28231770|PMID:28492532 1593188 Eng endoglin gene DOID:6432 pulmonary hypertension ISO RGD:1617632 D RGD:11041178|PMID:20042709 20160323 RGD 1593188 Eng endoglin gene DOID:684 hepatocellular carcinoma IEP D RGD:7257538|PMID:20368095 20130822 RGD protein:increased expression:liver (rat) 1593188 Eng endoglin gene DOID:8947 diabetic retinopathy ISO RGD:1351093 D RGD:1580961|PMID:16202216 20091016 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body 1593188 Eng endoglin gene DOID:9000808 Hypercholesterolemia ISO RGD:1617632 D RGD:7257552|PMID:17901886 20130823 RGD protein:increased expression, aortic root, aortic arch, endothelium (mouse) 1593188 Eng endoglin gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1617632 D RGD:7257552|PMID:17901886 20130823 RGD 1593188 Eng endoglin gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:7257525|PMID:22151990 20130821 RGD protein:decreased expression:lung (rat) 1593188 Eng endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1617632 D RGD:7248771|PMID:23022174 20130819 RGD kidney 1593188 Eng endoglin gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1351093 D RGD:2313806|PMID:18985316 20091016 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum 1593188 Eng endoglin gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:14684682|PMID:15024723|PMID:15115879|PMID:15687131|PMID:15879500|PMID:18156574|PMID:23919827|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32573726 1593188 Eng endoglin gene DOID:9001600 Wounds and Injuries disease_progression ISO RGD:1617632 D RGD:7248769|PMID:23349951 20130819 RGD 1593188 Eng endoglin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10625079|PMID:15517393|PMID:15521985|PMID:15879500|PMID:16705692|PMID:18498373|PMID:19270816|PMID:21158752|PMID:22991266|PMID:23298310|PMID:23722869|PMID:24033266|PMID:25741868|PMID:25970827|PMID:26167679|PMID:26387786|PMID:28492532|PMID:29650961|PMID:30029678|PMID:32573726|PMID:32581362|PMID:33919892 1593188 Eng endoglin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351093 D RGD:2313795|PMID:19395281 20091016 RGD associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney 1593188 Eng endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:11041166|PMID:15907823 20160404 RGD 1593188 Eng endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:7240710 20180117 OMIM 1593188 Eng endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14684682|PMID:15024723|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16164574|PMID:16199547|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18607909|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21415079|PMID:21967607|PMID:22022569|PMID:22192717|PMID:22347366|PMID:22385575|PMID:22656258|PMID:22991266|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25674101|PMID:25741868|PMID:25970827|PMID:2601709|PMID:26167679|PMID:26387786|PMID:26811476|PMID:27146957|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29171923|PMID:29398197|PMID:29483005|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30374176|PMID:30701124|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34008892|PMID:34377910|PMID:34900561|PMID:8162075|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 1593188 Eng endoglin gene DOID:9003845 Stress Fractures disease_progression IEP D RGD:7248788|PMID:23044046 20130820 RGD protein:increased expression:ulna, vasculature (rat) 1593188 Eng endoglin gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:1351093 D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Oral cavity telangiectasia PMID:25741868 1593188 Eng endoglin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1617632 D RGD:11041178|PMID:20042709 20160323 RGD 1593188 Eng endoglin gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7248779|PMID:16751653 20130820 RGD mRNA, protein:increased expression:kidney (rat) 1593188 Eng endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1617632 D RGD:7248779|PMID:16751653 20130820 RGD 1593188 Eng endoglin gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7257529|PMID:21146604 20130822 RGD protein:increased expression:liver (rat) 1593188 Eng endoglin gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:25741868 1593188 Eng endoglin gene DOID:9008421 Epistaxis ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis PMID:15879500|PMID:16542389|PMID:28492532|PMID:30251589 1593188 Eng endoglin gene DOID:9008421 Epistaxis ISO RGD:1617632 D RGD:11041563|PMID:10562296 20160324 RGD 1593188 Eng endoglin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:1617632 D RGD:7257526|PMID:21431419 20130821 RGD 1593188 Eng endoglin gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:16754821|PMID:18498373|PMID:23298310|PMID:24033266|PMID:25741868|PMID:26167679|PMID:26387786|PMID:28492532|PMID:30029678 1593188 Eng endoglin gene DOID:9074 systemic lupus erythematosus ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098 1593188 Eng endoglin gene DOID:9538 multiple myeloma severity ISO RGD:1351093 D RGD:11041181|PMID:23576184 20160323 RGD protein:increased expression:serum: 1593188 Eng endoglin gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1351093 D RGD:11041565|PMID:17572488 20160324 RGD 1593189 Gsta5 glutathione S-transferase alpha 5 gene DOID:10763 hypertension ISO RGD:1344623 D RGD:11554173 20161129 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 1593189 Gsta5 glutathione S-transferase alpha 5 gene DOID:630 genetic disease ISO RGD:1344623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593190 Cdkn2d cyclin dependent kinase inhibitor 2D gene DOID:630 genetic disease ISO RGD:1346352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593190 Cdkn2d cyclin dependent kinase inhibitor 2D gene DOID:9000217 Stomach Neoplasms ISO RGD:1346352 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 1593191 Iqsec3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605175 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1593191 Iqsec3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:630 genetic disease ISO RGD:1605175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593191 Iqsec3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605175 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1593237 Ubr2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1593237 Ubr2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:630 genetic disease ISO RGD:1313853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593237 Ubr2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:905 Zellweger syndrome ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1593238 Sgo1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:7240710 20150304 OMIM 1593238 Sgo1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia PMID:25282101|PMID:25741868 1593238 Sgo1 shugoshin 1 gene DOID:5295 intestinal disease ISO RGD:1344948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 1593238 Sgo1 shugoshin 1 gene DOID:630 genetic disease ISO RGD:1344948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593238 Sgo1 shugoshin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1344948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 1593238 Sgo1 shugoshin 1 gene DOID:9004980 Chronobiology Disorders ISO RGD:1344948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 1593239 Arpp21 cAMP regulated phosphoprotein 21 gene DOID:10283 prostate cancer ISO RGD:1606317 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1593239 Arpp21 cAMP regulated phosphoprotein 21 gene DOID:630 genetic disease ISO RGD:1606317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:0111287 psoriasis 13 ISO RGD:1312403 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Psoriasis 13, susceptibility to PMID:20953186|PMID:20953188|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:0111287 psoriasis 13 susceptibility ISO RGD:1312403 D RGD:7240710 20230517 OMIM 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:12894 Sjogren's syndrome ISS RGD:1312404 D RGD:13592920 20180518 MouseDO OMIM:270150 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:3310 atopic dermatitis ISS RGD:1312404 D RGD:13592920 20180518 MouseDO OMIM:603165 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:8893 psoriasis ISO RGD:1312403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188|PMID:20953190 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 ISO RGD:1312403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 8 PMID:16199547|PMID:17576681|PMID:20953186|PMID:20953188|PMID:22513239|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532|PMID:9536098 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 susceptibility ISO RGD:1312403 D RGD:7240710 20230517 OMIM 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1312403 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Discoid lupus erythematosus PMID:25741868 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:9008 psoriatic arthritis ISO RGD:1312403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188 1593240 Traf3ip2 Traf3 interacting protein 2 gene DOID:9074 systemic lupus erythematosus ISS RGD:1312404 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1593242 Mettl16 methyltransferase 16, N6-methyladenosine gene DOID:630 genetic disease ISO RGD:1604299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593242 Mettl16 methyltransferase 16, N6-methyladenosine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604299 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1349400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1349400 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:13501 Moebius syndrome ISO RGD:1349400 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1349400 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23545411|PMID:25741868|PMID:27334371|PMID:27389779|PMID:28492532|PMID:29807643 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:7240710 20190315 OMIM 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:23545411|PMID:25741868|PMID:27389779|PMID:28492532|PMID:29807643 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349400 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1349400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:23545411|PMID:25741868|PMID:27389779 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349400 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1593244 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9008582 Developmental Disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1593248 Exosc10 exosome component 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1593248 Exosc10 exosome component 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1593248 Exosc10 exosome component 10 gene DOID:0111936 immunodeficiency 14 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 1593248 Exosc10 exosome component 10 gene DOID:630 genetic disease ISO RGD:1349336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593248 Exosc10 exosome component 10 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1349336 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 1593249 Itga4 integrin subunit alpha 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 1593249 Itga4 integrin subunit alpha 4 gene DOID:0050589 inflammatory bowel disease ISO RGD:1348031 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 1593249 Itga4 integrin subunit alpha 4 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1348031 D RGD:13593533|PMID:19259978 20180518 RGD DNA:SNP,haplotypes:intron:rs155100(human) 1593249 Itga4 integrin subunit alpha 4 gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1348031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:25741868|PMID:28492532|PMID:29555955 1593249 Itga4 integrin subunit alpha 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28041643|PMID:28492532 1593249 Itga4 integrin subunit alpha 4 gene DOID:10591 pre-eclampsia IEP D RGD:9698441|PMID:10694336 20150216 RGD protein:increased expression:blood, granulocyte (rat) 1593249 Itga4 integrin subunit alpha 4 gene DOID:10952 nephritis treatment IMP D RGD:9698422|PMID:9773789 20150213 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:1348031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 1593249 Itga4 integrin subunit alpha 4 gene DOID:1793 pancreatic cancer ISO RGD:1348031 D RGD:5490966|PMID:18772397 20140724 RGD DNA:mutations:exon 1593249 Itga4 integrin subunit alpha 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment IDA D RGD:2308810|PMID:9032136 20090609 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment IMP D RGD:9698425|PMID:7679412 20150213 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:552 pneumonia treatment IMP D RGD:9698424|PMID:8703473 20150213 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593249 Itga4 integrin subunit alpha 4 gene DOID:8501 fundus dystrophy ISO RGD:1348031 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 1593249 Itga4 integrin subunit alpha 4 gene DOID:8947 diabetic retinopathy treatment IMP D RGD:9698417|PMID:19553613 20150213 RGD associated with Diabetes Mellitus, Experimental 1593249 Itga4 integrin subunit alpha 4 gene DOID:9000099 Experimental Colitis IEP D RGD:729408|PMID:12183646 20150216 RGD protein:increased expression:colon (rat) 1593249 Itga4 integrin subunit alpha 4 gene DOID:9001039 Leukocytosis IMP D RGD:9698418|PMID:12626659 20150213 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1348031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21093051 1593249 Itga4 integrin subunit alpha 4 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:9698440|PMID:12969328 20150216 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility IDA D RGD:9698436|PMID:18722022 20150216 RGD rat bone marrow cells in a mouse model 1593249 Itga4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IMP D RGD:9698418|PMID:12626659 20150213 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1558454 D RGD:9698437|PMID:9721793 20150216 RGD 1593249 Itga4 integrin subunit alpha 4 gene DOID:9004484 Sepsis ISO RGD:1348031 D RGD:13593535|PMID:19011162 20180518 RGD protein:increased expression:neutrophil 1593249 Itga4 integrin subunit alpha 4 gene DOID:9007402 Gliosis ISO RGD:1348031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 1593249 Itga4 integrin subunit alpha 4 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1558454 D RGD:13593534|PMID:7528925 20180518 RGD 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1606113 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1606113 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1606113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532|PMID:30557390 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:1921 Klinefelter syndrome ISO RGD:1606113 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:1923 disorder of sexual development ISO RGD:1606113 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 1593250 Ccdc141 coiled-coil domain containing 141 gene DOID:630 genetic disease ISO RGD:1606113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593252 Tead2 TEA domain transcription factor 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 1593252 Tead2 TEA domain transcription factor 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1344942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1593252 Tead2 TEA domain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1317868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:0080205 CAKUT ISO RGD:1317868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:32891193 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1317868 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1317868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:1826 epilepsy ISO RGD:1317868 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:630 genetic disease ISO RGD:1317868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32891193 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:7240710 20211027 OMIM 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities PMID:25741868|PMID:28492532|PMID:32891193 1593255 Zmym2 zinc finger MYM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593265 Atm ATM serine/threonine kinase gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:10199 D RGD:126779562|PMID:27421701 20210408 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:0050671 female breast cancer susceptibility ISO RGD:1606040 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 1593265 Atm ATM serine/threonine kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620|PMID:23807571|PMID:25614872|PMID:28492532 1593265 Atm ATM serine/threonine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 1593265 Atm ATM serine/threonine kinase gene DOID:0050753 cerebellar ataxia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:12810666|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:29909963|PMID:31050087|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:150340604|PMID:29928356 20210817 RGD protein:increased expression:mucosa of oral region (human) 1593265 Atm ATM serine/threonine kinase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:150340709|PMID:18288488 20210830 RGD protein:increased expression:mucosa of oral region (human) 1593265 Atm ATM serine/threonine kinase gene DOID:0060058 lymphoma IMP D RGD:12879393|PMID:27895165 20170418 RGD DNA:missense mutation:cds: 1593265 Atm ATM serine/threonine kinase gene DOID:0060058 lymphoma IMP D RGD:12879399|PMID:28007901 20170418 RGD DNA:deletion:exon: 1593265 Atm ATM serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 1593265 Atm ATM serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm IEP D RGD:1599367|PMID:11751435 20070131 RGD protein:decreased expression:hepatocyte 1593265 Atm ATM serine/threonine kinase gene DOID:0070271 Lynch syndrome 1 ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 1593265 Atm ATM serine/threonine kinase gene DOID:0080158 herpes simplex virus keratitis ameliorates ISO RGD:10199 D RGD:126781690|PMID:24370835 20210415 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1593265 Atm ATM serine/threonine kinase gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23807571|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9537233 1593265 Atm ATM serine/threonine kinase gene DOID:10283 prostate cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 1593265 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:150340715|PMID:17928013 20210830 RGD mRNA:decreased expression:stomach (human) 1593265 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15164409|PMID:15390180|PMID:15843990|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18431795|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21792198|PMID:21933854|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23807571|PMID:24172824|PMID:24368146|PMID:24405665|PMID:24789685|PMID:24935205|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25122203|PMID:25186627|PMID:25303977|PMID:25374739|PMID:25525159|PMID:25614872|PMID:25625042|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26098866|PMID:26270727|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:26846839|PMID:26896183|PMID:27121310|PMID:27159176|PMID:27433846|PMID:27664052|PMID:27732944|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27989354|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28281021|PMID:28492532|PMID:28497333|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28843361|PMID:29368341|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30402232|PMID:30549301|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30982232|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31214711|PMID:31263571|PMID:31447099|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31784493|PMID:31794323|PMID:31843900|PMID:31948886|PMID:32002120|PMID:32068069|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32566746|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32885271|PMID:32918381|PMID:32980694|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34873480|PMID:36988593|PMID:7792600|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9711876|PMID:9872980|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210827 RGD protein:decreased expression:mucosa of stomach (human) PMID:23649938|REF_RGD_ID:150340700 1593265 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:decreased phosphorylation:stomach (human) PMID:17928013|REF_RGD_ID:150340715 1593265 Atm ATM serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1606040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593265 Atm ATM serine/threonine kinase gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1606040 D RGD:10047419|PMID:23861893 20150713 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1606040 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19781682|PMID:25741868|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:32566746 1593265 Atm ATM serine/threonine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 1593265 Atm ATM serine/threonine kinase gene DOID:11476 osteoporosis ISO RGD:10199 D RGD:10047420|PMID:16644862 20150713 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:1240 leukemia IMP D RGD:12879399|PMID:28007901 20170418 RGD DNA:deletion:exon: 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia IMP D RGD:12879399|PMID:28007901 20170418 RGD DNA:deletion:exon: 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:10199 D RGD:10053611|PMID:19626507 20150715 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:8958160|PMID:11507241|PMID:11507245|PMID:15177039|PMID:15498871 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:7240710 20230517 OMIM 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388 1593265 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 1593265 Atm ATM serine/threonine kinase gene DOID:1319 brain cancer ISO RGD:1606040 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Brain cancer 1593265 Atm ATM serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21665257 1593265 Atm ATM serine/threonine kinase gene DOID:1380 endometrial cancer susceptibility ISO RGD:1606040 D RGD:2293868|PMID:17164260 20080618 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:14330 Parkinson's disease ISO RGD:1606040 D RGD:10053605|PMID:20502937 20150715 RGD protein:increased serine phosphorylation:cingulate gyrus 1593265 Atm ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation IMP D RGD:12879393|PMID:27895165 20201210 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation IMP D RGD:12879399|PMID:28007901 20230119 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177254 1593265 Atm ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1606040 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Neoplasm 1593265 Atm ATM serine/threonine kinase gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 1593265 Atm ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10425038|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:17623063|PMID:17640065|PMID:17910737|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26898890|PMID:26901136|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33191115|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:7240710 20230517 OMIM 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer susceptibility ISO RGD:1606040 D RGD:1643350|PMID:11200774 20071231 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 1593265 Atm ATM serine/threonine kinase gene DOID:1781 thyroid gland cancer ISO RGD:1606040 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 1593265 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098866|PMID:26098869 1593265 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:2317234|PMID:18381943 20100323 RGD DNA:SNP: :60G>A(human) 1593265 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:2317367|PMID:16520463 20100331 RGD DNA:SNP:intron:rs664677 (human) 1593265 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1606040 D RGD:2317363|PMID:19147782 20100330 RGD DNA:SNP:exon:rs1801516(human) 1593265 Atm ATM serine/threonine kinase gene DOID:1824 status epilepticus IEP D RGD:1599366|PMID:11852039 20070131 RGD protein:increased expression:brain 1593265 Atm ATM serine/threonine kinase gene DOID:1909 melanoma ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 1593265 Atm ATM serine/threonine kinase gene DOID:219 colon cancer ISO RGD:1606040 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Colon cancer 1593265 Atm ATM serine/threonine kinase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:10199 D RGD:1601249|PMID:15863839 20070411 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:2394 ovarian cancer ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:11996792|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12917204|PMID:12935922|PMID:14706517|PMID:15756685|PMID:17333338|PMID:18634022|PMID:19404735|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22529920|PMID:22585167|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25318351|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26094658|PMID:26155992|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:27093186|PMID:27878467|PMID:27913932|PMID:28007021|PMID:28008555|PMID:28135048|PMID:28135145|PMID:28281318|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31248605|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31867841|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32566746|PMID:32866190|PMID:32936981|PMID:33206719|PMID:33436325|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 1593265 Atm ATM serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10425038|PMID:11298136|PMID:12673797|PMID:12810666|PMID:12815592|PMID:1300551|PMID:133608|PMID:19781682|PMID:21787400|PMID:23322442|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:27443514|PMID:28492532|PMID:29486991|PMID:29659569|PMID:30651582|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31611883|PMID:31920950|PMID:33280026|PMID:33436325|PMID:33558524|PMID:34204722|PMID:8845835|PMID:8968760 1593265 Atm ATM serine/threonine kinase gene DOID:299 adenocarcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:36988593|PMID:9536098|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:1606040 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:25525159|PMID:25741868|PMID:26467025|PMID:9054948 1593265 Atm ATM serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 1593265 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:36988593|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606040 D RGD:1643351|PMID:10748873 20071231 RGD protein:decreased expression:lymph node 1593265 Atm ATM serine/threonine kinase gene DOID:3571 liver cancer ameliorates ISO RGD:10199 D RGD:150340702|PMID:19919837 20210829 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:150340713|PMID:17019709 20210830 RGD Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) 1593265 Atm ATM serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs228589) (human) PMID:28642860|REF_RGD_ID:150383339 1593265 Atm ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606040 D RGD:150383340|PMID:17582598 20210901 RGD DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human) 1593265 Atm ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1606040 D RGD:150404268|PMID:23632475 20210902 RGD human cells in mouse model 1593265 Atm ATM serine/threonine kinase gene DOID:3944 Arenaviridae infectious disease ISO RGD:10199 D RGD:126779561|PMID:21641396 20210408 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:1606040 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 1593265 Atm ATM serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395 1593265 Atm ATM serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:1606040 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 1593265 Atm ATM serine/threonine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 1593265 Atm ATM serine/threonine kinase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 1593265 Atm ATM serine/threonine kinase gene DOID:4606 bile duct cancer ISO RGD:1606040 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:17124347|PMID:20077034|PMID:25741868|PMID:26635394|PMID:28492532|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:32295079|PMID:3338800|PMID:36988593|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:5082 liver cirrhosis ISO RGD:1606040 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36526012 1593265 Atm ATM serine/threonine kinase gene DOID:5223 infertility IMP D RGD:12879393|PMID:27895165 20170418 RGD DNA:missense mutation:cds: 1593265 Atm ATM serine/threonine kinase gene DOID:5223 infertility IMP D RGD:12879399|PMID:28007901 20170418 RGD DNA:deletion:exon: 1593265 Atm ATM serine/threonine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1606040 D RGD:126790561|PMID:31781094 20210426 RGD protein:decreased expression:T cell (human) 1593265 Atm ATM serine/threonine kinase gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs227060) (human) PMID:28642860|REF_RGD_ID:150383339 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234 1593265 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:5750 endometrial serous adenocarcinoma ISO RGD:1606040 D RGD:8554872 20210713 ClinVar ClinVar Annotator: match by term: Endometrial serous adenocarcinoma 1593265 Atm ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:10199 D RGD:10053570|PMID:24358288 20150714 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 1593265 Atm ATM serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20305132|PMID:25356970|PMID:25741868|PMID:25980754|PMID:26053404|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29778231|PMID:33471991 1593265 Atm ATM serine/threonine kinase gene DOID:6741 bilateral breast cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral breast carcinoma PMID:19781682|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:31159747|PMID:31206626|PMID:32283892|PMID:33471991 1593265 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19919837 1593265 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1606040 D RGD:9068941 20210423 RGD protein:increased expression:liver (human) PMID:12866955|REF_RGD_ID:126781750 1593265 Atm ATM serine/threonine kinase gene DOID:687 hepatoblastoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:21665257|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27913932|PMID:28492532|PMID:29522266|PMID:30303537|PMID:31780696|PMID:33128190|PMID:33471991|PMID:34262154 1593265 Atm ATM serine/threonine kinase gene DOID:83 cataract ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16799786 1593265 Atm ATM serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:1606040 D RGD:2293869|PMID:16997395 20080618 RGD protein:increased serine phosphorylation:prostate gland 1593265 Atm ATM serine/threonine kinase gene DOID:8997 polycythemia vera ISO RGD:1606040 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera 1593265 Atm ATM serine/threonine kinase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053608|PMID:21748659 20150715 RGD protein:increased expression:spinal cord 1593265 Atm ATM serine/threonine kinase gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:10199 D RGD:126781749|PMID:20179206 20210419 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9000113 Pneumococcal Meningitis ameliorates ISO RGD:10199 D RGD:126781748|PMID:15529270 20210419 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 1593265 Atm ATM serine/threonine kinase gene DOID:9000371 influenza A exacerbates ISO RGD:10199 D RGD:126779564|PMID:31509427 20210408 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9000784 Fibrosis ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 1593265 Atm ATM serine/threonine kinase gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:10199 D RGD:1601249|PMID:15863839 20070411 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177254 1593265 Atm ATM serine/threonine kinase gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 1593265 Atm ATM serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17968022 1593265 Atm ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475 1593265 Atm ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:2293870|PMID:14983937 20080618 RGD protein:increased expression:prostate gland 1593265 Atm ATM serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606040 D RGD:8554872 20210713 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 1593265 Atm ATM serine/threonine kinase gene DOID:9002834 Herpesviridae Infections ameliorates ISO RGD:10199 D RGD:126781689|PMID:28701397 20210415 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9002834 Herpesviridae Infections ameliorates ISO RGD:10199 D RGD:126781691|PMID:22993144 20210415 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 1593265 Atm ATM serine/threonine kinase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:10330348|PMID:10864201|PMID:11606401|PMID:12362033|PMID:12552559|PMID:12815592|PMID:15039971|PMID:15843990|PMID:16832357|PMID:17124347|PMID:18384426|PMID:19691550|PMID:19781682|PMID:20301790|PMID:21445571|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22585167|PMID:22649200|PMID:23585524|PMID:23807571|PMID:24416720|PMID:25077176|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26467025|PMID:26667234|PMID:26681312|PMID:26976419|PMID:27034805|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29641532|PMID:30549301|PMID:31882575|PMID:32566746|PMID:32853339|PMID:32885271|PMID:33280026|PMID:33471991|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606040 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1593265 Atm ATM serine/threonine kinase gene DOID:9004484 Sepsis treatment ISO RGD:10199 D RGD:126781746|PMID:24184056 20210419 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment IEP D RGD:10053604|PMID:24565947 20150715 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:10199 D RGD:10053606|PMID:21224054 20150715 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1593265 Atm ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:16199547|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30322717|PMID:32866655|PMID:34654685 1593265 Atm ATM serine/threonine kinase gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10330348|PMID:11382771|PMID:11826028|PMID:11830610|PMID:14654357|PMID:15054841|PMID:15174027|PMID:16958054|PMID:17001622|PMID:17576681|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19781682|PMID:19823873|PMID:20301790|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:33509806|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9536098|PMID:9792410|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor disease_progression ISO RGD:1606040 D RGD:150340716|PMID:22485171 20210830 RGD associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:10053607|PMID:22768306 20150715 RGD protein:increased expression:kidney 1593265 Atm ATM serine/threonine kinase gene DOID:9006269 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone PMID:11443540|PMID:19781682|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28779002|PMID:33471991 1593265 Atm ATM serine/threonine kinase gene DOID:9006644 Retroviridae Infections ameliorates ISO RGD:10199 D RGD:126781747|PMID:15661267 20210419 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9006646 Metabolic Syndrome ISO RGD:10199 D RGD:1601248|PMID:17084711 20070411 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9006815 Otorhinolaryngologic Neoplasms severity ISO RGD:1606040 D RGD:150340703|PMID:21127011 20210830 RGD mRNA:decreased expression:pharynx,larynx (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261 1593265 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 1593265 Atm ATM serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1606040 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm 1593265 Atm ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance IEP D RGD:8693659|PMID:18534819 20140717 RGD protein:decreased expression:muscle: 1593265 Atm ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance treatment ISO RGD:1606040 D RGD:126781688|PMID:23171036 20210415 RGD Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:126790563|PMID:29128564 20210426 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:25741868|PMID:28492532 1593265 Atm ATM serine/threonine kinase gene DOID:9008603 Rhabdoviridae Infections ameliorates ISO RGD:10199 D RGD:126790565|PMID:25692705 20210426 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1606040 D RGD:150340755|PMID:20171797 20210831 RGD associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1606040 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 1593265 Atm ATM serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:33509806|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 1593265 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:10677309|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15643608|PMID:15756685|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20966255|PMID:21150274|PMID:21164480|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24325359|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24920063|PMID:24935205|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25151137|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637 1593265 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28087566|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29101607|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29778231|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29954938|PMID:29967250|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31159747|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31407689 1593265 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32756499|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35666082|PMID:35806449|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:150340701|PMID:23437304 20210829 RGD mRNA:decreased expression:mucosa of rectum (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 1593265 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:126790575|PMID:16533773 20210427 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:150340714|PMID:30814645 20210830 RGD DNA:mutations 1593265 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:126779560|PMID:29230817 20210408 RGD protein:decreased expression:epithelium of nasopharynx (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:126790562|PMID:19142888 20210426 RGD associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1606040 D RGD:150340692|PMID:28820634 20210826 RGD 1593265 Atm ATM serine/threonine kinase gene DOID:9460 uterine corpus cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451 1593265 Atm ATM serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:1606040 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1593265 Atm ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia ISO RGD:1606040 D RGD:150340709|PMID:18288488 20210830 RGD protein:increased expression:mucosa of oral region (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia severity ISO RGD:1606040 D RGD:150340604|PMID:29928356 20210817 RGD protein:increased expression:mucosa of oral region (human) 1593265 Atm ATM serine/threonine kinase gene DOID:9669 senile cataract susceptibility ISO RGD:1606040 D RGD:126790564|PMID:29156695 20210426 RGD DNA:SNP:3' UTR: (rs4585) (human) 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1351708 D RGD:1599692|PMID:8651291 20070212 RGD OCA3, OMIM:203290 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1351708 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:0050633 ocular albinism ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868|PMID:28492532 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF PMID:18680187|PMID:28492532|PMID:8651291|PMID:9345097 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:7240710 20130221 OMIM 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 PMID:15996218|PMID:16199547|PMID:16704458|PMID:17576681|PMID:18326704|PMID:18680187|PMID:18821858|PMID:19533799|PMID:21739261|PMID:23504663|PMID:23862152|PMID:24033266|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31233279|PMID:31719542|PMID:8651291|PMID:9345097|PMID:9536098 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:1909 melanoma ISO RGD:1351708 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:299 adenocarcinoma ISO RGD:1351708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:630 genetic disease ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:9001386 Albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:16199547|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8651291|PMID:9345097 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1351708 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:16704458|PMID:21739261|PMID:25741868|PMID:28266639|PMID:28492532 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:7240710 20141015 OMIM 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 11 PMID:22556244|PMID:24449225|PMID:28492532 1593266 Tyrp1 tyrosinase-related protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1351708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343163 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1343163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:7240710 20140903 OMIM 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 PMID:16199547|PMID:17576681|PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338|PMID:9536098 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343163 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:12849 autistic disorder ISO RGD:1343163 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:630 genetic disease ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338 1593276 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343163 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593279 Erich3 glutamate-rich 3 gene DOID:630 genetic disease ISO RGD:1603912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593280 Slc39a7 solute carrier family 39 member 7 gene DOID:0050553 JMP syndrome ISO RGD:1344767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1593280 Slc39a7 solute carrier family 39 member 7 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344767 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 1593280 Slc39a7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:7240710 20220112 OMIM 1593280 Slc39a7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive PMID:28492532|PMID:30718914 1593280 Slc39a7 solute carrier family 39 member 7 gene DOID:630 genetic disease ISO RGD:1344767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0050156 idiopathic pulmonary fibrosis susceptibility ISO RGD:1349823 D RGD:5147566|PMID:21373184 20110811 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0050168 autoimmune polyendocrine syndrome type 2 susceptibility ISO RGD:1349823 D RGD:5147565|PMID:21388354 20110811 RGD DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0050553 JMP syndrome ISO RGD:1349823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1349823 D RGD:5147610|PMID:19616314 20110815 RGD DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0050827 rheumatic heart disease ISO RGD:1349823 D RGD:5147630|PMID:17578051 20110816 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0050827 rheumatic heart disease susceptibility ISO RGD:1349823 D RGD:5147643|PMID:16426242 20110816 RGD DNA:polymorphism:cds:HLA-DRB1*13 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22096508 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0060500 drug allergy ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0060532 latex allergy ISO RGD:1349823 D RGD:5147656|PMID:15536412 20110817 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DRB1*1501 (human) PMID:12651073|REF_RGD_ID:40902999 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0080600 COVID-19 ISO RGD:1349823 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:1349823 D RGD:11074090|PMID:25975240 20180222 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1349823 D RGD:7365101|PMID:8712634 20131021 RGD DNA:polymorphism: :DRB1*0301(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1024 leprosy ISO RGD:1349823 D RGD:5147788|PMID:19698125 20110819 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1024 leprosy susceptibility ISO RGD:1349823 D RGD:5147585|PMID:20003324 20110812 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1349823 D RGD:2314702|PMID:10672954 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10322 berylliosis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16272364|PMID:17927685 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:104 bacterial infectious disease onset ISO RGD:1349823 D RGD:5147635|PMID:16987934 20110816 RGD associated with Cystic Fibrosis;DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10608 celiac disease ISO RGD:1349823 D RGD:5147803|PMID:12404952 20110819 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10652 Alzheimer's disease ISO RGD:1349823 D RGD:5147563|PMID:21473952 20110811 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10976 membranous glomerulonephritis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:10983 Alport syndrome susceptibility ISO RGD:1349823 D RGD:7365078|PMID:15182324 20140205 RGD DNA:polymorphism: :HLA-DRB1*16 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1349823 D RGD:2306228|PMID:19272325 20090326 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1349823 D RGD:2314693|PMID:12941545 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1349823 D RGD:2314694|PMID:12918070 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome susceptibility ISO RGD:1349823 D RGD:9068941 20201127 RGD DNA:polymorphism:cds:HLA-DRB1*0401-0411, HLA-DRB1*1001, HLA-DRB1*1101-1105, HLA-DRB1*1201-1202 and HLA-DRB1*1305 (human) PMID:25169964|REF_RGD_ID:40818303 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11335 sarcoidosis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14508706 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1349823 D RGD:7240710 20190502 OMIM 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1349823 D RGD:7365045|PMID:22991420 20131016 RGD DNA:polymorphism: : HLA-DRB1*08:03(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1349823 D RGD:7365081|PMID:14508706 20131017 RGD DNA:polymorphism: :multiple alleles 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1349823 D RGD:7365096|PMID:9683867 20131018 RGD DNA:polymorphism: :DRB1*1101, DRB1*0701(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1349823 D RGD:7365103|PMID:8052655 20131021 RGD DNA:polymorphism: :HLA-DRB1*04(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1349823 D RGD:7365114|PMID:23376458 20131022 RGD associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1184 nephrotic syndrome ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6420562|PMID:11095018 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12029 sympathetic ophthalmia susceptibility ISO RGD:1349823 D RGD:7365091|PMID:11222331 20131018 RGD DNA:polymorphism: :HLA-DRB1*0404(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12029 sympathetic ophthalmia susceptibility ISO RGD:1349823 D RGD:7365100|PMID:9062965 20131021 RGD DNA:polymorphism: :HLA-DRB1*04(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1205 allergic disease ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8725357 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1205 allergic disease ISO RGD:1349823 D RGD:5147814|PMID:10689122 20110822 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1205 allergic disease ISO RGD:1349823 D RGD:5147826|PMID:16112029 20110822 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1205 allergic disease susceptibility ISO RGD:1349823 D RGD:5147651|PMID:15853900 20110816 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1210 optic neuritis ISO RGD:1349823 D RGD:7365050|PMID:22167100 20131016 RGD associated with Encephalomyelitis, Autoimmune, Experimental; 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12140 Chagas disease susceptibility ISO RGD:1349823 D RGD:5147589|PMID:19811437 20110812 RGD DNA:polymorphisms:exon (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12148 alveolar echinococcosis ISO RGD:1349823 D RGD:36174003|PMID:9756400 20200723 RGD DNA:polymorphisms: :HLA-DRB1*03, DRB1*11(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1349823 D RGD:5147653|PMID:15603876 20110817 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1349823 D RGD:5147857|PMID:10527396 20110825 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1349823 D RGD:7365067|PMID:20216938 20131017 RGD DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1349823 D RGD:7365099|PMID:9548078 20131018 RGD DNA:polymorphism: :HLA-DRB1*0405(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12306 vitiligo ISO RGD:1349823 D RGD:5147644|PMID:16420246 20110816 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12306 vitiligo susceptibility ISO RGD:1349823 D RGD:36174006|PMID:9653015 20200723 RGD DNA:polymorphism: : HLA-DRB1*0701(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12361 Graves' disease susceptibility ISO RGD:1349823 D RGD:7365065|PMID:21307958 20131017 RGD DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12361 Graves' disease susceptibility ISO RGD:1349823 D RGD:7365073|PMID:15219383 20131017 RGD DNA:polymorphism: :HLA-DRB1*03(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12361 Graves' disease susceptibility ISO RGD:1349823 D RGD:7365089|PMID:11263477 20131018 RGD DNA:polymorphism: :HLA-DRB1*0301(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1245 vulva cancer susceptibility ISO RGD:1349823 D RGD:2314696|PMID:12543794 20200723 RGD associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DRB1*11,DRB1*01,DRB1*13(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12662 paracoccidioidomycosis severity ISO RGD:1349823 D RGD:5147631|PMID:17325942 20110816 RGD DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12849 autistic disorder ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8765331 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12849 autistic disorder ISO RGD:1349823 D RGD:5147556|PMID:21716163 20110811 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12859 choreatic disease ISO RGD:1349823 D RGD:5147792|PMID:17559688 20110819 RGD associated with Rheumatic Fever;DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1349823 D RGD:5147809|PMID:11555411 20110822 RGD DNA:polymorphism:cds:HLA-DRB1*0301 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:1349823 D RGD:7365093|PMID:24033735 20131022 RGD DNA:polymorphism: :HLA-DRB1*09, HLA-DRB1*14(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13141 uveitis susceptibility ISO RGD:1349823 D RGD:7364926|PMID:12198697 20131018 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphism: :HLA-DRB1*0103(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13141 uveitis susceptibility ISO RGD:1349823 D RGD:7365070|PMID:16495319 20131017 RGD associated Arthritis, Juvenile;DNA:polymorphism: :HLA-DRB1*13(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1349823 D RGD:36049760|PMID:23278646 20200717 RGD associated with cystic fibrosis; DNA:polymorphisms: : 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1349823 D RGD:7365104|PMID:1358857 20131021 RGD DNA:polymorphism: :DRB1*0802(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13258 typhoid fever ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25383971 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13258 typhoid fever susceptibility ISO RGD:1349823 D RGD:36049756|PMID:11120931 20200716 RGD DNA:polymorphisms:: 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13258 typhoid fever susceptibility ISO RGD:1349823 D RGD:36174025|PMID:25383971 20200727 RGD DNA:polymorphism: :HLA-DRB1*04:05, rs7765379(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13375 temporal arteritis ISO RGD:1349823 D RGD:5147974|PMID:16846526 20110830 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13375 temporal arteritis onset ISO RGD:1349823 D RGD:5147583|PMID:20064872 20110812 RGD associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1340 pure red-cell aplasia susceptibility ISO RGD:1349823 D RGD:11041748|PMID:18689790 20190412 RGD DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13404 uveoparotid fever susceptibility ISO RGD:1349823 D RGD:5147562|PMID:21565911 20110811 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:1349823 D RGD:9068941 20201120 RGD DNA:polymorphism:cds:DRB1*03 (human) PMID:15881283|REF_RGD_ID:40818305 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13406 pulmonary sarcoidosis susceptibility ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:DRB1*15 (human) PMID:15881283|REF_RGD_ID:40818305 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13774 Addison's disease ISO RGD:1349823 D RGD:5147553|PMID:21816777 20110811 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:13774 Addison's disease ISO RGD:1349823 D RGD:5147588|PMID:19858318 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1389 polyneuropathy ISO RGD:1349823 D RGD:5147579|PMID:20211906 20110812 RGD DNA:polymorphisms, haplotype:cds:HLA-DRB1*15 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1395 schistosomiasis treatment ISO RGD:1349823 D RGD:36049813|PMID:16709874 20200721 RGD DNA:polymorphism: :HLA-DRB1*13 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1349823 D RGD:5147646|PMID:16254435 20110816 RGD DNA:polymorphisms:cds:HLA-DRB1*0405, HLA-DRB1*0802 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:14115 toxic shock syndrome ISO RGD:1349823 D RGD:5490203|PMID:15644645 20110907 RGD mRNA:decreased expression:blood 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:14330 Parkinson's disease ISO RGD:1349823 D RGD:5147576|PMID:20462916 20110812 RGD DNA:polymorphism: :HLA-DRB1*03 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1459 hypothyroidism ISO RGD:1349823 D RGD:5147628|PMID:17588142 20110816 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1495 cystic echinococcosis ISO RGD:1349823 D RGD:36174019|PMID:22308705 20200724 RGD DNA:polymorphism: :HLA-DRB1*03, DRB1*07(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1555 urticaria ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1555 urticaria ISO RGD:1349823 D RGD:5147574|PMID:20559009 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1558 angioedema ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1586 rheumatic fever ISO RGD:1349823 D RGD:5147792|PMID:17559688 20110819 RGD DNA:polymorphisms, haplotypes:multiple 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1612 breast cancer ISO RGD:1349823 D RGD:2306231|PMID:16799707 20090326 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1612 breast cancer susceptibility ISO RGD:1349823 D RGD:2314699|PMID:11349219 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1686 glaucoma susceptibility ISO RGD:1349823 D RGD:7365116|PMID:10511023 20131022 RGD DNA:Haplotype: :HLA-DRB1*0407(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:1883 hepatitis C susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DRB1*11 (human) PMID:21535077|REF_RGD_ID:40902997 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2048 autoimmune hepatitis ISO RGD:1349823 D RGD:5147634|PMID:17050030 20110816 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2048 autoimmune hepatitis ISO RGD:1349823 D RGD:5147810|PMID:11182227 20110822 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1349823 D RGD:5147652|PMID:15763345 20110816 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1349823 D RGD:5147856|PMID:10573514 20110825 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis onset ISO RGD:1349823 D RGD:5147573|PMID:20580995 20110811 RGD DNA:polymorphism: :HLA-DRB1*0801 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1349823 D RGD:5147555|PMID:21741664 20110811 RGD DNA:polymorphism: :HLA-DRB*1501 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1349823 D RGD:5147559|PMID:21664963 20110811 RGD DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1349823 D RGD:5147564|PMID:21440682 20110811 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1349823 D RGD:5147580|PMID:20207784 20110812 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1349823 D RGD:7240710 20190502 OMIM 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16792590 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma ISO RGD:1349823 D RGD:1331670|PMID:10051703 20110825 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma ISO RGD:1349823 D RGD:4144181|PMID:20214848 20101011 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma ISO RGD:1349823 D RGD:4144196|PMID:19528258 20101012 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma ISO RGD:1349823 D RGD:5147663|PMID:19439981 20110817 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma no_association ISO RGD:1349823 D RGD:13506906|PMID:23331206 20180222 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma severity ISO RGD:1349823 D RGD:5147607|PMID:20486920 20110815 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2841 asthma susceptibility ISO RGD:1349823 D RGD:13506913|PMID:20159242 20180223 RGD DNA:polymorphisms: : 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:289 endometriosis severity ISO RGD:1349823 D RGD:5147572|PMID:20797713 20110811 RGD DNA:SNP: :rs660895 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349823 D RGD:9068941 20220825 RGD DNA:polymorphism:cds:HLA-DRB1*0301 (human) PMID:15243926|REF_RGD_ID:32716381 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349823 D RGD:9068941 20220825 RGD DNA:polymorphism:cds:HLA-DRB1*12 (human) PMID:19445991|REF_RGD_ID:32716374 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1349823 D RGD:36049765|PMID:28612994 20200717 RGD DNA:polymorphism: :HLA-DRB1*09:01(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349823 D RGD:36049753|PMID:24024195 20200716 RGD DNA:polymorphism:cds:HLA-DRB1*0201(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:2988 antiphospholipid syndrome ISO RGD:1349823 D RGD:5147862|PMID:11157139 20110825 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:3459 breast carcinoma ISO RGD:1349823 D RGD:2306233|PMID:15382064 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:3492 mixed connective tissue disease ISO RGD:1349823 D RGD:5147801|PMID:12559632 20110819 RGD DNA:polymorphism:cds:HLA-DRB1*04 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:399 tuberculosis ISO RGD:1349823 D RGD:5147605|PMID:21251479 20110815 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:399 tuberculosis ISO RGD:1349823 D RGD:5147633|PMID:17153701 20110816 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:399 tuberculosis susceptibility ISO RGD:1349823 D RGD:36049809|PMID:19030725 20200721 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1349823 D RGD:5147828|PMID:14522182 20110822 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:417 autoimmune disease ISO RGD:1349823 D RGD:5147554|PMID:21744463 20110811 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:417 autoimmune disease susceptibility ISO RGD:1349823 D RGD:7365071|PMID:16005081 20131017 RGD associated with glucoma;DNA:polymorphism: :HLA-DRB1*1502(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:437 myasthenia gravis onset ISO RGD:1349823 D RGD:7365079|PMID:15003812 20131017 RGD DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:437 myasthenia gravis susceptibility ISO RGD:1349823 D RGD:7365051|PMID:21924912 20131016 RGD DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1349823 D RGD:2314695|PMID:12771724 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1349823 D RGD:2314701|PMID:10895068 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1349823 D RGD:2314704|PMID:9044854 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:4780 anti-basement membrane glomerulonephritis susceptibility ISO RGD:1349823 D RGD:5147561|PMID:21569485 20110811 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:4989 pancreatitis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217962 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1349823 D RGD:36049755|PMID:11336748 20200716 RGD associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DRB1*0901, HLA-DRB1*1302, HLA-DRB1*1501(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349823 D RGD:5147659|PMID:20345872 20110817 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1349823 D RGD:5147591|PMID:21257739 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) PMID:28244954|REF_RGD_ID:40903000 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:5419 schizophrenia ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:576 proteinuria ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6420562|PMID:11436868 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:633 myositis ISO RGD:1349823 D RGD:5147568|PMID:21125283 20110811 RGD DNA:polymorphisms:multiple 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:633 myositis ISO RGD:1349823 D RGD:5147629|PMID:17586554 20110816 RGD DNA:polymorphisms, haplotypes:cds:HLA-DRB1*02, HLA-DRB1*03 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:633 myositis ISO RGD:1349823 D RGD:5147793|PMID:16609350 20110819 RGD DNA:polymorphism:cds:HLA-DRB1*0301 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1349823 D RGD:36049763|PMID:22786832 20200717 RGD DNA:polymorphism, haplotype: : 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1349823 D RGD:5147662|PMID:19722042 20110817 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349823 D RGD:5147587|PMID:19908388 20110812 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349823 D RGD:5147863|PMID:10457895 20110825 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7147 ankylosing spondylitis severity ISO RGD:1349823 D RGD:5147611|PMID:19565552 20110815 RGD DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898480|PMID:20453842|PMID:22286218 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:4144826|PMID:18512783 20110706 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:5147616|PMID:19117368 20110815 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349823 D RGD:5147860|PMID:11454644 20110825 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1349823 D RGD:5147567|PMID:21246357 20110811 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7188 autoimmune thyroiditis ISO RGD:1349823 D RGD:5147557|PMID:21683551 20110811 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7188 autoimmune thyroiditis ISO RGD:1349823 D RGD:5147571|PMID:20825955 20110811 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7188 autoimmune thyroiditis ISO RGD:1349823 D RGD:5147805|PMID:12126634 20110822 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:1349823 D RGD:5147609|PMID:20405713 20110815 RGD associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DRB1*07, HLA-DRB1*17 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1349823 D RGD:5147825|PMID:16879749 20110822 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8568 infectious mononucleosis susceptibility ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:HLA-DRB1*0101 (human) PMID:21482926|REF_RGD_ID:40818406 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8577 ulcerative colitis ISO RGD:1349823 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:25559196 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8778 Crohn's disease ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25559196 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8869 neuromyelitis optica ISO RGD:1349823 D RGD:5147590|PMID:21748712 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1349823 D RGD:11530523|PMID:27049564 20200722 RGD DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1349823 D RGD:11041758|PMID:10435723 20190410 RGD DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8929 atrophic gastritis ISO RGD:1349823 D RGD:5147582|PMID:20082482 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349823 D RGD:7365113|PMID:23837223 20131022 RGD associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8986 narcolepsy ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711174 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8986 narcolepsy susceptibility ISO RGD:1349823 D RGD:5147861|PMID:11179016 20110825 RGD DNA:polymorphisms:cds:multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349823 D RGD:2306230|PMID:18351579 20090326 RGD associated with Papillomavirus Infections 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349823 D RGD:2306232|PMID:15458897 20090326 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349823 D RGD:2314703|PMID:10073700 20091124 RGD associated with Papillomavirus Infections 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms susceptibility ISO RGD:1349823 D RGD:2314705|PMID:9374382 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms susceptibility ISO RGD:1349823 D RGD:2314706|PMID:8712095 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1349823 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9000942 Actinic Prurigo susceptibility ISO RGD:1349823 D RGD:7365088|PMID:11369906 20131018 RGD DNA:Polymorphism: :HLA-DRB1*14(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9001365 Amebic Liver Abscess susceptibility ISO RGD:1349823 D RGD:36049810|PMID:25938667 20200721 RGD DNA:polymorphism, haplotype: :HLA-DRB1*08 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9001415 Mycobacterium Infections susceptibility ISO RGD:1349823 D RGD:9068941 20201127 RGD associated with pulmonary sarcoidosis PMID:15881283|REF_RGD_ID:40818305 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9001472 Nasal Polyps ISO RGD:1349823 D RGD:5147813|PMID:10718431 20110822 RGD associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9001488 Human Influenza ISO RGD:1349823 D RGD:4144816|PMID:19386707 20101015 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9002457 Experimental Arthritis ISO RGD:1349823 D RGD:5147558|PMID:21665435 20110811 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9002457 Experimental Arthritis ISO RGD:1349823 D RGD:5147586|PMID:19950279 20110812 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349823 D RGD:2306229|PMID:18561316 20090326 RGD DNA:amplification, deletion 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1349823 D RGD:5147647|PMID:16194572 20110816 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1349823 D RGD:5147657|PMID:15336778 20110817 RGD DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9003284 HIV Seropositivity ISO RGD:1349823 D RGD:5147578|PMID:20224785 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1349823 D RGD:2314700|PMID:10755413 20091124 RGD associated with Papillomavirus Infections 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1349823 D RGD:2306228|PMID:19272325 20090326 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1349823 D RGD:2314697|PMID:12447731 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1349823 D RGD:7365092|PMID:11099146 20131018 RGD DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1349823 D RGD:7365115|PMID:16303674 20131022 RGD DNA:polymorphism: :HLA-DRB1*0403(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1349823 D RGD:5147618|PMID:18925312 20110815 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1349823 D RGD:36174022|PMID:17489060 20200727 RGD DNA:polymorphisms:cds:HLA-DRB1*030101, DRB1*0701(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9004422 Chagas Cardiomyopathy susceptibility ISO RGD:1349823 D RGD:5147589|PMID:19811437 20110812 RGD DNA:polymorphism:exon (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9004735 Idiopathic Hypersomnolence ISO RGD:1349823 D RGD:5147660|PMID:19927159 20110817 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:1349823 D RGD:5147577|PMID:20353806 20110812 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:1349823 D RGD:5147802|PMID:12556395 20110819 RGD DNA:polymorphism (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1349823 D RGD:8554872 20200818 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007019 Pneumocystis Infections IEP D RGD:4144112|PMID:20377877 20151210 RGD mRNA:increased expression:bronchoalveolar lavage, alveolar macrophage (rat) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007096 Stroke susceptibility ISO RGD:1349823 D RGD:5147804|PMID:12373032 20110819 RGD DNA:polymorphism:cds:HLA-DRB1*0802 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1349823 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1349823 D RGD:5147613|PMID:19254248 20110815 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570397 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007647 Trichiasis susceptibility ISO RGD:1349823 D RGD:7364877|PMID:18824733 20131017 RGD DNA:polymorphism: :HLA-DRB1*11(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9007996 End Stage Liver Disease susceptibility ISO RGD:1349823 D RGD:36174014|PMID:11302974 20200724 RGD associated with hepatitis C;DNA:polymorphism: : HLA-DRB1*11(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349823 D RGD:5147649|PMID:16011982 20110816 RGD associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1349823 D RGD:36049761|PMID:15833172 20200717 RGD DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1349823 D RGD:14398840|PMID:16883532 20190506 RGD DNA:haplotype:: 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1349823 D RGD:36049762|PMID:16237774 20200717 RGD DNA:polymorphisms: : 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9008276 Juvenile Pauciarticular Chronic Arthritis susceptibility ISO RGD:1349823 D RGD:7365102|PMID:7955632 20131021 RGD DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1349823 D RGD:5147560|PMID:21658414 20110811 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1349823 D RGD:5147581|PMID:20191587 20110812 RGD DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1349823 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DRB1*0301 (human) PMID:12651073|REF_RGD_ID:40902999 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9146 visceral leishmaniasis ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291585 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9182 pemphigus ISO RGD:1349823 D RGD:5147619|PMID:18780165 20110816 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9182 pemphigus susceptibility ISO RGD:1349823 D RGD:9068941 20201203 RGD DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human) PMID:9347787|REF_RGD_ID:40818304 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9415 allergic asthma susceptibility ISO RGD:1349823 D RGD:13506905|PMID:22397267 20180222 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168013 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349823 D RGD:5147569|PMID:20858521 20110811 RGD DNA:polymorphisms (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1349823 D RGD:5147575|PMID:20510319 20110812 RGD DNA:polymorphisms: :multiple (human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1349823 D RGD:2314698|PMID:12270547 20091124 RGD 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:9849 Meniere's disease susceptibility ISO RGD:1349823 D RGD:7364921|PMID:12542204 20131017 RGD DNA:polymorphism: : HLA-DRB1*15(human) 1593282 RT1-Db1 RT1 class II, locus Db1 gene DOID:998 eosinophilia-myalgia syndrome ISO RGD:1349823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19790128 1593283 RT1-Da RT1 class II, locus Da gene DOID:0050553 JMP syndrome ISO RGD:1344093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1593283 RT1-Da RT1 class II, locus Da gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344093 D RGD:5490156|PMID:21791235 20110906 RGD DNA:SNP:intron: (rs3129882) (human) 1593283 RT1-Da RT1 class II, locus Da gene DOID:11716 prediabetes syndrome IEP D RGD:5147592|PMID:3142800 20110812 RGD mRNA:increased expression:spleen, lymphocyte 1593283 RT1-Da RT1 class II, locus Da gene DOID:1205 allergic disease ISO RGD:1344093 D RGD:5490205|PMID:9104792 20110907 RGD 1593283 RT1-Da RT1 class II, locus Da gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28771573 1593283 RT1-Da RT1 class II, locus Da gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:5490160|PMID:17568330 20110906 RGD associated with Burns 1593283 RT1-Da RT1 class II, locus Da gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:1344093 D RGD:5490203|PMID:15644645 20110907 RGD 1593283 RT1-Da RT1 class II, locus Da gene DOID:14330 Parkinson's disease ISO RGD:1344093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 1593283 RT1-Da RT1 class II, locus Da gene DOID:14330 Parkinson's disease onset ISO RGD:1344093 D RGD:5490158|PMID:20711177 20110906 RGD DNA:SNP:intron: (rs3129882) (human) 1593283 RT1-Da RT1 class II, locus Da gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17660530 1593283 RT1-Da RT1 class II, locus Da gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:5490202|PMID:19834503 20110907 RGD DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) 1593283 RT1-Da RT1 class II, locus Da gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:5490204|PMID:10527398 20110907 RGD DNA:polymorphism:promoter (human) 1593283 RT1-Da RT1 class II, locus Da gene DOID:2841 asthma susceptibility ISO RGD:1344093 D RGD:13506913|PMID:20159242 20180223 RGD DNA:polymorphisms: : 1593283 RT1-Da RT1 class II, locus Da gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344093 D RGD:5490168|PMID:19635508 20110906 RGD mRNA:increased expression:lung 1593283 RT1-Da RT1 class II, locus Da gene DOID:3312 bipolar disorder ISO RGD:1344093 D RGD:5490162|PMID:16687443 20110906 RGD 1593283 RT1-Da RT1 class II, locus Da gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344093 D RGD:5490157|PMID:21427211 20110906 RGD 1593283 RT1-Da RT1 class II, locus Da gene DOID:7188 autoimmune thyroiditis ISO RGD:1344093 D RGD:5147805|PMID:12126634 20110906 RGD 1593283 RT1-Da RT1 class II, locus Da gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1593283 RT1-Da RT1 class II, locus Da gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1344093 D RGD:5490166|PMID:8676084 20110906 RGD 1593283 RT1-Da RT1 class II, locus Da gene DOID:9006961 Asthma and Nasal Polyps susceptibility ISO RGD:1344093 D RGD:13506908|PMID:22391069 20180222 RGD DNA:SNPs,haplotype:introns: 1593283 RT1-Da RT1 class II, locus Da gene DOID:9744 type 1 diabetes mellitus ISO RGD:1558302 D RGD:5490164|PMID:11812739 20110906 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:0050553 JMP syndrome ISO RGD:1349475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:0060500 drug allergy ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16538175 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:0080855 Parkinsonism ISO RGD:1349475 D RGD:5147599|PMID:15585408 20110815 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:0081267 graft-versus-host disease severity IEP D RGD:8662845|PMID:18580475 20140625 RGD mRNA:increased expression:skin 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1349475 D RGD:10402403|PMID:15832029 20151023 RGD DNA:polymorphism: :-110A>C(human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:11054 urinary bladder cancer treatment ISO RGD:1349475 D RGD:7242743|PMID:19914824 20140130 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:11832 visual epilepsy severity ISO RGD:1349475 D RGD:7257648|PMID:22509781 20130828 RGD protein:increased expression:cerebral spinal fluid: 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1229 paranoid schizophrenia susceptibility ISO RGD:1349475 D RGD:7257645|PMID:23893339 20130828 RGD DNA:SNP: :190G>C(human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:12306 vitiligo treatment ISO RGD:1349475 D RGD:8662840|PMID:23447019 20140625 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1349475 D RGD:7257647|PMID:23321917 20130828 RGD associated with Cardiovascular Diseases; protein:increased expression:blood: 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:13378 Kawasaki disease ISO RGD:1349475 D RGD:8662464|PMID:23870089 20140624 RGD DNA:polymorphism:5' utr:190G>C (rs1043618) (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:14330 Parkinson's disease ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15585408 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1470 major depressive disorder ISO RGD:1349475 D RGD:5147598|PMID:17428599 20110815 RGD DNA:SNP: :rs1043618 (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1485 cystic fibrosis ISO RGD:1349475 D RGD:9068941 20220825 RGD DNA:polymorphism, haplotype: :1267A>G (human) PMID:21993476|REF_RGD_ID:6767553 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1485 cystic fibrosis severity ISO RGD:1349475 D RGD:6767553|PMID:21993476 20120711 RGD DNA:polymorphism, haplotype: :1267A>G (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1824 status epilepticus ISO RGD:1349475 D RGD:7257648|PMID:22509781 20130828 RGD protein:increased expression:cerebral spinal fluid: 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1909 melanoma ISO RGD:1349475 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26984758 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1936 atherosclerosis ISO RGD:1349475 D RGD:5147595|PMID:20490736 20110812 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:1936 atherosclerosis ISO RGD:1349475 D RGD:7257649|PMID:22328194 20130828 RGD DNA:SNP:promoter:-110A>C(rs1008438) (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:3021 acute kidney failure ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12690470|PMID:19546256 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349475 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17234771 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:409 liver disease ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:5419 schizophrenia ISO RGD:1349475 D RGD:5147596|PMID:18299791 20110815 RGD DNA:missense mutation, SNP, haplotype:cds, 5' utr: (rs562047, rs1043618) (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:630 genetic disease ISO RGD:1349475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:8725 vascular dementia ISO RGD:1349475 D RGD:10402403|PMID:15832029 20151023 RGD DNA:polymorphism: :-110A>C(human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9000528 Coronary Disease ISO RGD:1349475 D RGD:7257652|PMID:19333379 20130828 RGD DNA:SNPs: : -110A>C (rs1008438), 190G>C (rs1043618) (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349475 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26984758 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9000998 Brain Injuries ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9000998 Brain Injuries ISO RGD:1558069 D RGD:5147593|PMID:21549006 20110812 RGD mRNA:increased expression:brain 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9001103 Heat Stress Disorders ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16627676 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349475 D RGD:7257650|PMID:21849784 20130828 RGD DNA:SNP: :190G>C(human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9001708 Hemorrhagic Shock IEP D RGD:7257601|PMID:22266570 20130827 RGD mRNA:increased expression:liver 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349475 D RGD:7242747|PMID:18518860 20140130 RGD associated with Diabetes Mellitus, Type 2 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15764345 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9002819 Coronary Occlusion ISO RGD:1349475 D RGD:7257651|PMID:21439970 20130828 RGD mRNA:increased expression:heart: 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1349475 D RGD:8662466|PMID:17009596 20140624 RGD DNA:SNP, haplotype: :rs1043618 (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:7257595|PMID:22526757 20130827 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9003817 Sudden Hearing Loss ISO RGD:1349475 D RGD:8662465|PMID:22922572 20140624 RGD DNA:SNP, haplotype: :rs1043618 (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9004009 Reperfusion Injury ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9004332 Osteoarthritis, Experimental treatment IMP D RGD:10402538|PMID:16394269 20151026 RGD 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:1349475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9074 systemic lupus erythematosus ISO RGD:1349475 D RGD:5147600|PMID:20498198 20110815 RGD DNA:SNP: :rs1043618 (human) 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9651 systolic heart failure disease_progression ISO RGD:1349475 D RGD:7257646|PMID:23564583 20130828 RGD protein:increased expression:serum: 1593284 Hspa1b heat shock protein family A (Hsp70) member 1B gene DOID:9849 Meniere's disease susceptibility ISO RGD:1349475 D RGD:7257654|PMID:19241595 20130828 RGD DNA:SNP: :190G>C(human) 1593287 Diaph3 diaphanous-related formin 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1350370 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1593287 Diaph3 diaphanous-related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:7240710 20130221 OMIM 1593287 Diaph3 diaphanous-related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 PMID:20624953|PMID:25741868|PMID:27658576|PMID:28492532 1593287 Diaph3 diaphanous-related formin 3 gene DOID:1338 congenital dyserythropoietic anemia ISS RGD:1314906 D RGD:13592920 20201001 MouseDO 1593287 Diaph3 diaphanous-related formin 3 gene DOID:630 genetic disease ISO RGD:1350370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 1593287 Diaph3 diaphanous-related formin 3 gene DOID:9004538 Hearing Loss ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 1593289 Pyy peptide YY gene DOID:0080074 neural tube defect ISO RGD:1348512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 1593289 Pyy peptide YY gene DOID:10652 Alzheimer's disease ISO RGD:1348512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 1593289 Pyy peptide YY gene DOID:13250 diarrhea ISO RGD:1348512 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19925840 1593289 Pyy peptide YY gene DOID:630 genetic disease ISO RGD:1348512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593289 Pyy peptide YY gene DOID:9001109 Anorexia ISO RGD:1348512 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:29689362 1593289 Pyy peptide YY gene DOID:9007692 Insulin Resistance ISO RGD:1348512 D RGD:1625281|PMID:17045646 20070531 RGD protein:decreased expression 1593289 Pyy peptide YY gene DOID:9008385 Vomiting ISO RGD:1348512 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33581213 1593289 Pyy peptide YY gene DOID:9008972 Hyperammonemia ISO RGD:1348512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:28492532 1593289 Pyy peptide YY gene DOID:9970 obesity ISO RGD:1348512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16368708 1593289 Pyy peptide YY gene DOID:9970 obesity ISO RGD:1348512 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Obesity PMID:10898754|PMID:11825645|PMID:16368708 1593290 Klf3 KLF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1343244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593291 Mr1 major histocompatibility complex, class I-related gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 1593291 Mr1 major histocompatibility complex, class I-related gene DOID:1540 parathyroid carcinoma ISO RGD:1343564 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593291 Mr1 major histocompatibility complex, class I-related gene DOID:630 genetic disease ISO RGD:1343564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593291 Mr1 major histocompatibility complex, class I-related gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343564 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1593291 Mr1 major histocompatibility complex, class I-related gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343564 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:27259049|PMID:28492532|PMID:30982706 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:630 genetic disease ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:7240710 20190315 OMIM 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism PMID:25741868|PMID:27259049|PMID:28492532 1593292 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604288 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593295 Pebp4 phosphatidylethanolamine binding protein 4 gene DOID:630 genetic disease ISO RGD:1606949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593295 Pebp4 phosphatidylethanolamine binding protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 1593297 LOC691995 hypothetical protein LOC691995 gene DOID:630 genetic disease ISO RGD:16571318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593299 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:0080600 COVID-19 ISO RGD:1604451 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1593299 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:11934 head and neck cancer ISO RGD:1604451 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:32266149 1593299 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:630 genetic disease ISO RGD:1604451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593308 Gpc6 glypican 6 gene DOID:0060288 omodysplasia ISO RGD:1352914 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Omodysplasia 1593308 Gpc6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 1593308 Gpc6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:7240710 20141015 OMIM 1593308 Gpc6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive omodysplasia PMID:19481194|PMID:25741868|PMID:28492532 1593308 Gpc6 glypican 6 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352914 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 1593308 Gpc6 glypican 6 gene DOID:11476 osteoporosis ISO RGD:1352914 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869591 1593308 Gpc6 glypican 6 gene DOID:630 genetic disease ISO RGD:1352914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593308 Gpc6 glypican 6 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352914 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1593308 Gpc6 glypican 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1352914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 1593308 Gpc6 glypican 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 1593310 Tmem95 transmembrane protein 95 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1593310 Tmem95 transmembrane protein 95 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603857 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1593310 Tmem95 transmembrane protein 95 gene DOID:1059 intellectual disability ISO RGD:1603857 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1593310 Tmem95 transmembrane protein 95 gene DOID:12177 common variable immunodeficiency ISO RGD:1603857 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1593310 Tmem95 transmembrane protein 95 gene DOID:2729 dyskeratosis congenita ISO RGD:1603857 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1593310 Tmem95 transmembrane protein 95 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1593310 Tmem95 transmembrane protein 95 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1603857 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1593310 Tmem95 transmembrane protein 95 gene DOID:630 genetic disease ISO RGD:1603857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593311 Spem1 spermatid maturation 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1593311 Spem1 spermatid maturation 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1602954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 1593311 Spem1 spermatid maturation 1 gene DOID:1059 intellectual disability ISO RGD:1602954 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 1593311 Spem1 spermatid maturation 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1602954 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1593311 Spem1 spermatid maturation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1602954 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 1593311 Spem1 spermatid maturation 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 1593311 Spem1 spermatid maturation 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1602954 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 1593311 Spem1 spermatid maturation 1 gene DOID:630 genetic disease ISO RGD:1602954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:1324 lung cancer severity ISO RGD:1350541 D RGD:155791670|PMID:33573689 20230104 RGD 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1350541 D RGD:155791670|PMID:33573689 20230104 RGD 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:11535977|PMID:15821733 20160927 RGD DNA:frameshift mutations, missense mutation, nonsense mutation:multiple 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:11535978|PMID:18186147 20160927 RGD DNA:deletion:exon 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16380922|PMID:18186147|PMID:20101700 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:7240710 20130221 OMIM 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:15821733|PMID:16199547|PMID:16380922|PMID:1642282|PMID:16775838|PMID:18411254|PMID:18414213|PMID:19574259|PMID:20101700|PMID:20301332|PMID:24864645|PMID:25741868|PMID:26710928|PMID:28492532|PMID:30508616|PMID:30590172|PMID:31192177|PMID:31976146|PMID:3740099|PMID:495649 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350541 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821733|PMID:16380922|PMID:18414213|PMID:20101700|PMID:28492532 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1350541 D RGD:155791669|PMID:36104638 20230104 RGD mRNA:increased expression:peripheral blood mononuclear cell 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1350541 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:7240710 20210324 OMIM 1593313 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Juberg-Hayward syndrome PMID:18414213|PMID:20301332|PMID:25741868|PMID:28492532|PMID:32255174|PMID:32977150 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0050712 AGAT deficiency ISO RGD:1606959 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606959 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:7240710 20211222 OMIM 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 59 PMID:33211200 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1606959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:630 genetic disease ISO RGD:1606959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593334 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:9256 colorectal cancer ISO RGD:1606959 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593338 Eif3j eukaryotic translation initiation factor 3, subunit J gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1317118 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 1593338 Eif3j eukaryotic translation initiation factor 3, subunit J gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317118 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Spastic Paraplegia, Recessive 1593338 Eif3j eukaryotic translation initiation factor 3, subunit J gene DOID:2717 Bloom syndrome ISO RGD:1317118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593338 Eif3j eukaryotic translation initiation factor 3, subunit J gene DOID:630 genetic disease ISO RGD:1317118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593338 Eif3j eukaryotic translation initiation factor 3, subunit J gene DOID:9256 colorectal cancer ISO RGD:1317118 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593344 Fam124a family with sequence similarity 124 member A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1602826 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1593344 Fam124a family with sequence similarity 124 member A gene DOID:1059 intellectual disability ISO RGD:1602826 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593344 Fam124a family with sequence similarity 124 member A gene DOID:630 genetic disease ISO RGD:1602826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593344 Fam124a family with sequence similarity 124 member A gene DOID:893 Wilson disease ISO RGD:1602826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 1593345 Strc stereocilin gene DOID:0070173 spermatogenic failure 7 ISO RGD:1344167 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1593345 Strc stereocilin gene DOID:0070173 spermatogenic failure 7 ISO RGD:1344167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7 PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025 1593345 Strc stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:7240710 20130221 OMIM 1593345 Strc stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:18414213|PMID:21078986|PMID:21681106|PMID:22147502|PMID:24033266|PMID:24963352|PMID:25157971|PMID:25741868|PMID:26011646|PMID:26467025|PMID:26746617|PMID:31552524|PMID:32203226|PMID:35802133|PMID:36633841 1593345 Strc stereocilin gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:22147502|PMID:24033266|PMID:25741868 1593345 Strc stereocilin gene DOID:10003 sensorineural hearing loss ISO RGD:1344167 D RGD:1599186|PMID:11687802 20070118 RGD 1593345 Strc stereocilin gene DOID:2717 Bloom syndrome ISO RGD:1344167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593345 Strc stereocilin gene DOID:630 genetic disease ISO RGD:1344167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 1593345 Strc stereocilin gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1344167 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 1593345 Strc stereocilin gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1344167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:18414213|PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025 1593345 Strc stereocilin gene DOID:9004538 Hearing Loss ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 1593345 Strc stereocilin gene DOID:9256 colorectal cancer ISO RGD:1344167 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593350 Tgm5 transglutaminase 5 gene DOID:2717 Bloom syndrome ISO RGD:1318367 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593350 Tgm5 transglutaminase 5 gene DOID:630 genetic disease ISO RGD:1318367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16380904|PMID:19440220|PMID:20164844|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26707537|PMID:29242947 1593350 Tgm5 transglutaminase 5 gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1318367 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:22622422 1593350 Tgm5 transglutaminase 5 gene DOID:9002697 Peeling Skin Syndrome 2 ISO RGD:1318367 D RGD:7240710 20160706 OMIM 1593350 Tgm5 transglutaminase 5 gene DOID:9002697 Peeling Skin Syndrome 2 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acral peeling skin syndrome PMID:16380904|PMID:19440220|PMID:20164844|PMID:21469335|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26091878|PMID:26707537|PMID:26925801|PMID:28492532|PMID:29242947 1593350 Tgm5 transglutaminase 5 gene DOID:9256 colorectal cancer ISO RGD:1318367 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593351 Fam241a family with sequence similarity 241 member A gene DOID:12271 aniridia ISO RGD:1606723 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 1593358 Nt5dc3 5'-nucleotidase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593360 Stard9 StAR-related lipid transfer domain containing 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1349851 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 1593360 Stard9 StAR-related lipid transfer domain containing 9 gene DOID:2717 Bloom syndrome ISO RGD:1349851 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593360 Stard9 StAR-related lipid transfer domain containing 9 gene DOID:3312 bipolar disorder ISO RGD:1349851 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 1593360 Stard9 StAR-related lipid transfer domain containing 9 gene DOID:630 genetic disease ISO RGD:1349851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1593360 Stard9 StAR-related lipid transfer domain containing 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1349851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1593360 Stard9 StAR-related lipid transfer domain containing 9 gene DOID:9256 colorectal cancer ISO RGD:1349851 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593368 Cfap119 cilia and flagella associated protein 119 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603940 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1593368 Cfap119 cilia and flagella associated protein 119 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1603940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 1593368 Cfap119 cilia and flagella associated protein 119 gene DOID:630 genetic disease ISO RGD:1603940 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593370 Pla2g4f phospholipase A2, group IVF gene DOID:2717 Bloom syndrome ISO RGD:1606120 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593370 Pla2g4f phospholipase A2, group IVF gene DOID:630 genetic disease ISO RGD:1606120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593370 Pla2g4f phospholipase A2, group IVF gene DOID:9256 colorectal cancer ISO RGD:1606120 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593372 Pla2g4d phospholipase A2 group IVD gene DOID:2717 Bloom syndrome ISO RGD:1352050 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593372 Pla2g4d phospholipase A2 group IVD gene DOID:630 genetic disease ISO RGD:1352050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593372 Pla2g4d phospholipase A2 group IVD gene DOID:9256 colorectal cancer ISO RGD:1352050 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593374 Ssx1 SSX family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354257 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1593374 Ssx1 SSX family member 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1593374 Ssx1 SSX family member 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1593374 Ssx1 SSX family member 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1593374 Ssx1 SSX family member 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1354257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1593374 Ssx1 SSX family member 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1354257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1593374 Ssx1 SSX family member 1 gene DOID:12849 autistic disorder ISO RGD:1354257 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1593374 Ssx1 SSX family member 1 gene DOID:3307 teratoma ISO RGD:1354257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1593374 Ssx1 SSX family member 1 gene DOID:5485 synovial sarcoma ISO RGD:1354257 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:9428816|PMID:27572315 1593374 Ssx1 SSX family member 1 gene DOID:630 genetic disease ISO RGD:1354257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593374 Ssx1 SSX family member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1354257 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1593374 Ssx1 SSX family member 1 gene DOID:9003990 X-Linked Spermatogenic Failure 5 ISO RGD:1354257 D RGD:7240710 20230505 OMIM 1593374 Ssx1 SSX family member 1 gene DOID:9003990 X-Linked Spermatogenic Failure 5 ISO RGD:1354257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 5 PMID:36796361 1593382 Ddx19b DEAD-box helicase 19B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346558 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1593382 Ddx19b DEAD-box helicase 19B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 1593382 Ddx19b DEAD-box helicase 19B gene DOID:630 genetic disease ISO RGD:1346558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593405 Tmem92 transmembrane protein 92 gene DOID:630 genetic disease ISO RGD:1603555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593405 Tmem92 transmembrane protein 92 gene DOID:9008086 Developmental Disabilities ISO RGD:1603555 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:7240710 20151209 OMIM 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal neuropathy with neuromyotonia PMID:16199547|PMID:16835243|PMID:17576681|PMID:1851512|PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:26059562|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31088288|PMID:31400136|PMID:31673878|PMID:31832804|PMID:31848916|PMID:33369814|PMID:33663550|PMID:34694653|PMID:9536098 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0050742 nicotine dependence ISO RGD:1606034 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20514075 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0080000 muscular disease ISO RGD:1606034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:28492532|PMID:29787766|PMID:31673878 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1606034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17203012|PMID:20514075 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:630 genetic disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1851512|PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31832804|PMID:34694653 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1606034 D RGD:8554872 20181016 ClinVar ClinVar Annotator: match by term: Sensory axonal neuropathy 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:870 neuropathy ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606034 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:9006079 Inherited Peripheral Neuropathy ISO RGD:1606034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 1593411 Hint1 histidine triad nucleotide binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593414 Tmem71 transmembrane protein 71 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606965 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 1593414 Tmem71 transmembrane protein 71 gene DOID:14264 benign neonatal seizures ISO RGD:1606965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 1593414 Tmem71 transmembrane protein 71 gene DOID:6000 congestive heart failure ISO RGD:1606965 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 1593414 Tmem71 transmembrane protein 71 gene DOID:630 genetic disease ISO RGD:1606965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:0050722 PHGDH deficiency ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:630 genetic disease ISO RGD:1318471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28554332|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:33972171|PMID:34890876|PMID:35074316|PMID:9536098 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:7240710 20220223 OMIM 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset PMID:25741868|PMID:28236339|PMID:28492532|PMID:28905505|PMID:29120065|PMID:30831263|PMID:31970218|PMID:32120303|PMID:34890876 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:7240710 20190315 OMIM 1593417 Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:34890876|PMID:35074316|PMID:9536098 1593433 Fbxo3 F-box protein 3 gene DOID:1059 intellectual disability ISO RGD:1314921 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593433 Fbxo3 F-box protein 3 gene DOID:630 genetic disease ISO RGD:1314921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593434 Gcn1 GCN1 activator of EIF2AK4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312843 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 1593434 Gcn1 GCN1 activator of EIF2AK4 gene DOID:630 genetic disease ISO RGD:1312843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593441 Oc90 otoconin 90 gene DOID:3426 vestibular disease ISO RGD:1606848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 1593441 Oc90 otoconin 90 gene DOID:630 genetic disease ISO RGD:1606848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593449 Tektip1 tektin bundle interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301120 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593455 Tmem86b transmembrane protein 86B gene DOID:0110936 nemaline myopathy 5 ISO RGD:1603160 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 1593455 Tmem86b transmembrane protein 86B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603160 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1593455 Tmem86b transmembrane protein 86B gene DOID:630 genetic disease ISO RGD:1603160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593458 Mansc1 MANSC domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 1593458 Mansc1 MANSC domain containing 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1353615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 1593458 Mansc1 MANSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1353615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593461 Klk5 kallikrein related-peptidase 5 gene DOID:630 genetic disease ISO RGD:1320514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593461 Klk5 kallikrein related-peptidase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16517595 1593465 Cenpw centromere protein W gene DOID:0080600 COVID-19 ISO RGD:1350206 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1593465 Cenpw centromere protein W gene DOID:630 genetic disease ISO RGD:1350206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593465 Cenpw centromere protein W gene DOID:684 hepatocellular carcinoma ISO RGD:1350206 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1323499 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:3070 high grade glioma ISO RGD:1323499 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:630 genetic disease ISO RGD:1323499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1593467 Znrd2 zinc ribbon domain containing 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 1593476 Ptx3 pentraxin 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1343528 D RGD:38508892|PMID:28487045 20200819 RGD protein:increased expression:bronchoalveolar lavage fluid (human) 1593476 Ptx3 pentraxin 3 gene DOID:0050073 invasive aspergillosis severity ISO RGD:1343528 D RGD:38501097|PMID:30275011 20200818 RGD DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 1593476 Ptx3 pentraxin 3 gene DOID:0050153 pulmonary aspergilloma ISO RGD:1343528 D RGD:38508894|PMID:29964232 20200819 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) 1593476 Ptx3 pentraxin 3 gene DOID:1003 pelvic inflammatory disease ISO RGD:1343528 D RGD:38508897|PMID:21679133 20200819 RGD protein:increased expression:plasma (human) 1593476 Ptx3 pentraxin 3 gene DOID:14115 toxic shock syndrome ISO RGD:1343528 D RGD:38508896|PMID:30687307 20200819 RGD protein:increased expression:plasma (human) 1593476 Ptx3 pentraxin 3 gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1343528 D RGD:35673347|PMID:20927127 20200715 RGD DNA:SNP:exon:rs35948036(human) 1593476 Ptx3 pentraxin 3 gene DOID:1883 hepatitis C severity ISO RGD:1343528 D RGD:11554449|PMID:26400151 20200818 RGD protein:increased expression:plasma (human) 1593476 Ptx3 pentraxin 3 gene DOID:37 skin disease ISO RGD:1343528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1593476 Ptx3 pentraxin 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1343528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22210019 1593476 Ptx3 pentraxin 3 gene DOID:630 genetic disease ISO RGD:1343528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593476 Ptx3 pentraxin 3 gene DOID:9000522 Invasive Candidiasis severity ISO RGD:1343528 D RGD:38501097|PMID:30275011 20200818 RGD associated with hematologic cancer;DNA:SNP:intron:rs1840680 1593476 Ptx3 pentraxin 3 gene DOID:9000992 necrotizing soft tissue infection severity ISO RGD:1343528 D RGD:38508899|PMID:26880104 20200819 RGD protein:decreased expression:plasma (human) 1593476 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:38501098|PMID:29020397 20200818 RGD protein:increased expression:plasma 1593476 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:38508894|PMID:29964232 20200819 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) 1593476 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis no_association ISO RGD:1343528 D RGD:38501098|PMID:29020397 20200818 RGD DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 1593476 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis susceptibility ISO RGD:1343528 D RGD:38501098|PMID:29020397 20200818 RGD DNA:SNP:intron:rs1840680 (human) 1593476 Ptx3 pentraxin 3 gene DOID:9006058 Invasive Fungal Infections severity ISO RGD:1343528 D RGD:38501097|PMID:30275011 20200818 RGD DNA:SNPs:intron:rs2305619, rs1840680 (human) 1593476 Ptx3 pentraxin 3 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:1343528 D RGD:35673347|PMID:20927127 20200715 RGD associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human) 1593476 Ptx3 pentraxin 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1343528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 1593476 Ptx3 pentraxin 3 gene DOID:9008212 Diabetic Foot ISO RGD:1343528 D RGD:38501100|PMID:30767386 20200818 RGD protein:decreased expression:plasma (human) 1593487 Rab20 RAB20, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:1315116 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1593487 Rab20 RAB20, member RAS oncogene family gene DOID:2222 factor X deficiency ISO RGD:1315116 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1593487 Rab20 RAB20, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593487 Rab20 RAB20, member RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315116 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1593490 Tktl1 transketolase-like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1593490 Tktl1 transketolase-like 1 gene DOID:0050476 Barth syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1593490 Tktl1 transketolase-like 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 1593490 Tktl1 transketolase-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 1593490 Tktl1 transketolase-like 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351621 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1593490 Tktl1 transketolase-like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1593490 Tktl1 transketolase-like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1593490 Tktl1 transketolase-like 1 gene DOID:12849 autistic disorder ISO RGD:1351621 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1593490 Tktl1 transketolase-like 1 gene DOID:13628 favism ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:607 paraplegia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1593490 Tktl1 transketolase-like 1 gene DOID:630 genetic disease ISO RGD:1351621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593490 Tktl1 transketolase-like 1 gene DOID:9002720 Splenomegaly ISO RGD:1351621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1593490 Tktl1 transketolase-like 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 1593490 Tktl1 transketolase-like 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 1593500 Chmp1b charged multivesicular body protein 1B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1603626 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 1593500 Chmp1b charged multivesicular body protein 1B gene DOID:1059 intellectual disability ISO RGD:1603626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593500 Chmp1b charged multivesicular body protein 1B gene DOID:543 dystonia ISO RGD:1603626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:23222958|PMID:24405754|PMID:25817843|PMID:27123488|PMID:28492532 1593500 Chmp1b charged multivesicular body protein 1B gene DOID:630 genetic disease ISO RGD:1603626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1321252 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:7240710 20130221 OMIM 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 7 PMID:19344877|PMID:20301780|PMID:21255775|PMID:24442342|PMID:25741868|PMID:28492532 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:1059 intellectual disability ISO RGD:1321252 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:12336 male infertility ISO RGD:1321252 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Male infertility 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:630 genetic disease ISO RGD:1321252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1593515 Catsper1 cation channel, sperm associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1593534 Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit gene DOID:630 genetic disease ISO RGD:1606800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593542 Shisal2a shisa like 2A gene DOID:630 genetic disease ISO RGD:1601694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:0080016 spina bifida IEP D RGD:9491842|PMID:20515739 20141006 RGD 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1344509 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:25741868|PMID:30019515 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1909 melanoma ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1969 cerebral palsy ISO RGD:1344509 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3070 high grade glioma ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3192 neurilemmoma ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3307 teratoma ISO RGD:1344509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1344509 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1344509 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:657 adenoma ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:7240710 20200318 OMIM 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome PMID:25741868|PMID:28229514|PMID:28492532|PMID:30019515|PMID:31736240 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25240281|PMID:25305755 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9005120 Pigmented Nevus ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1619223 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1344509 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:1344509 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008582 Developmental Disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1593621 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:962 neurofibroma ISO RGD:1344509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 1593643 Thap2 THAP domain containing 2 gene DOID:630 genetic disease ISO RGD:1349583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593644 Zfp106 zinc finger protein 106 gene DOID:2717 Bloom syndrome ISO RGD:1343281 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1593644 Zfp106 zinc finger protein 106 gene DOID:332 amyotrophic lateral sclerosis ISS RGD:1616834 D RGD:13592920 20180518 MouseDO 1593644 Zfp106 zinc finger protein 106 gene DOID:630 genetic disease ISO RGD:1343281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593644 Zfp106 zinc finger protein 106 gene DOID:9256 colorectal cancer ISO RGD:1343281 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1593681 Ppp1r13l protein phosphatase 1, regulatory subunit 13 like gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISS RGD:1617213 D RGD:13592920 20180518 MouseDO 1593681 Ppp1r13l protein phosphatase 1, regulatory subunit 13 like gene DOID:0050737 autosomal recessive disease ISS RGD:1617213 D RGD:13592920 20190718 MouseDO 1593681 Ppp1r13l protein phosphatase 1, regulatory subunit 13 like gene DOID:1240 leukemia ISO RGD:1347285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19299014 1593681 Ppp1r13l protein phosphatase 1, regulatory subunit 13 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1347285 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28069640 1593681 Ppp1r13l protein phosphatase 1, regulatory subunit 13 like gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1347285 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Cardio-cutaneous syndrome PMID:28069640 1593681 Ppp1r13l protein phosphatase 1, regulatory subunit 13 like gene DOID:630 genetic disease ISO RGD:1347285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593683 Caprin2 caprin family member 2 gene DOID:630 genetic disease ISO RGD:1604605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593688 Ipo8 importin 8 gene DOID:630 genetic disease ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593688 Ipo8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:7240710 20211027 OMIM 1593688 Ipo8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: VISS syndrome PMID:16199547|PMID:25741868|PMID:28492532|PMID:33875846|PMID:34010604|PMID:34010605 1593709 Npnt nephronectin gene DOID:0080200 bilateral renal aplasia ISS RGD:1614982 D RGD:13592920 20211202 MouseDO 1593709 Npnt nephronectin gene DOID:630 genetic disease ISO RGD:1604498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:0110266 cataract 9 multiple types ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:12849 autistic disorder ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:630 genetic disease ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:9263 homocystinuria ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1593740 Krtap10-8 keratin associated protein 10-8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342479 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1593768 Rbbp4 RB binding protein 4, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593771 Znrf3 zinc and ring finger 3 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1342950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1593771 Znrf3 zinc and ring finger 3 gene DOID:1793 pancreatic cancer ISO RGD:1342950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 1593771 Znrf3 zinc and ring finger 3 gene DOID:3948 adrenocortical carcinoma ISO RGD:1342950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 1593771 Znrf3 zinc and ring finger 3 gene DOID:630 genetic disease ISO RGD:1342950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593771 Znrf3 zinc and ring finger 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1593779 S100a7a S100 calcium binding protein A7A gene DOID:0111940 immunodeficiency 42 ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1593779 S100a7a S100 calcium binding protein A7A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1593779 S100a7a S100 calcium binding protein A7A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1593779 S100a7a S100 calcium binding protein A7A gene DOID:11612 polycystic ovary syndrome ISO RGD:1346957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1593779 S100a7a S100 calcium binding protein A7A gene DOID:1540 parathyroid carcinoma ISO RGD:1346957 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593779 S100a7a S100 calcium binding protein A7A gene DOID:5812 MHC class II deficiency ISO RGD:1346957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1593779 S100a7a S100 calcium binding protein A7A gene DOID:630 genetic disease ISO RGD:1346957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593779 S100a7a S100 calcium binding protein A7A gene DOID:8893 psoriasis ISS RGD:1321094 D RGD:13592920 20180518 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 1593779 S100a7a S100 calcium binding protein A7A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346957 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593784 Zfp385a zinc finger protein 385A gene DOID:630 genetic disease ISO RGD:1315468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593785 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345909 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1593785 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593785 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1345909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1593785 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:630 genetic disease ISO RGD:1345909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593785 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345909 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593785 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593792 Polr3g RNA polymerase III subunit G gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593792 Polr3g RNA polymerase III subunit G gene DOID:630 genetic disease ISO RGD:1348674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593792 Polr3g RNA polymerase III subunit G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348674 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593792 Polr3g RNA polymerase III subunit G gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593795 Emid1 EMI domain containing 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1349411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1593795 Emid1 EMI domain containing 1 gene DOID:630 genetic disease ISO RGD:1349411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593795 Emid1 EMI domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 1593806 Gng13 G protein subunit gamma 13 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 1593806 Gng13 G protein subunit gamma 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1593806 Gng13 G protein subunit gamma 13 gene DOID:1826 epilepsy ISO RGD:1318585 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1593806 Gng13 G protein subunit gamma 13 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318585 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1593806 Gng13 G protein subunit gamma 13 gene DOID:630 genetic disease ISO RGD:1318585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593809 Pcp4l1 Purkinje cell protein 4-like 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1593809 Pcp4l1 Purkinje cell protein 4-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602138 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593809 Pcp4l1 Purkinje cell protein 4-like 1 gene DOID:630 genetic disease ISO RGD:1602138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593809 Pcp4l1 Purkinje cell protein 4-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602138 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593817 Nek5 NIMA-related kinase 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1344374 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1593817 Nek5 NIMA-related kinase 5 gene DOID:1059 intellectual disability ISO RGD:1344374 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593817 Nek5 NIMA-related kinase 5 gene DOID:630 genetic disease ISO RGD:1344374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593824 Evi2a ecotropic viral integration site 2A gene DOID:0111253 neurofibromatosis 1 ISO RGD:1350066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 1593824 Evi2a ecotropic viral integration site 2A gene DOID:1969 cerebral palsy ISO RGD:1350066 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 1593824 Evi2a ecotropic viral integration site 2A gene DOID:630 genetic disease ISO RGD:1350066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593824 Evi2a ecotropic viral integration site 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350066 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 1593824 Evi2a ecotropic viral integration site 2A gene DOID:9008086 Developmental Disabilities ISO RGD:1350066 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 1593831 Odf2l outer dense fiber of sperm tails 2-like gene DOID:630 genetic disease ISO RGD:1606519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593851 Fam53c family with sequence similarity 53, member C gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:36174034 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1593851 Fam53c family with sequence similarity 53, member C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:36174034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593851 Fam53c family with sequence similarity 53, member C gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:36174034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1593851 Fam53c family with sequence similarity 53, member C gene DOID:630 genetic disease ISO RGD:36174034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593851 Fam53c family with sequence similarity 53, member C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:36174034 D RGD:8554872 20200804 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1593851 Fam53c family with sequence similarity 53, member C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:36174034 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1593851 Fam53c family with sequence similarity 53, member C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:36174034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1593854 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1593854 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1593854 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1593854 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:1059 intellectual disability ISO RGD:1346582 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593854 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593854 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1593864 Rcor3 REST corepressor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1350848 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593864 Rcor3 REST corepressor 3 gene DOID:630 genetic disease ISO RGD:1350848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593864 Rcor3 REST corepressor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350848 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593867 Trim68 tripartite motif containing 68 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1593867 Trim68 tripartite motif containing 68 gene DOID:630 genetic disease ISO RGD:1344713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593877 LOC684179 similar to olfactory receptor 556 gene DOID:0080773 delta beta-thalassemia ISO RGD:1349331 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1593877 LOC684179 similar to olfactory receptor 556 gene DOID:630 genetic disease ISO RGD:1349331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593883 Traf5 TNF receptor-associated factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1605425 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593883 Traf5 TNF receptor-associated factor 5 gene DOID:630 genetic disease ISO RGD:1605425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593883 Traf5 TNF receptor-associated factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605425 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593886 Or51f1 olfactory receptor family 51 subfamily F member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 1593886 Or51f1 olfactory receptor family 51 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:1353833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:7240710 20130731 OMIM 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:17186464|PMID:17576681|PMID:20301475|PMID:21928830|PMID:22531706|PMID:23301801|PMID:23308101|PMID:24265693|PMID:24516651|PMID:25741868|PMID:27422788|PMID:28492532|PMID:29068479|PMID:9536098 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 treatment ISO RGD:1614303 D RGD:11560490|PMID:23740938 20161108 RGD 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:14791 Leber congenital amaurosis ISO RGD:1603852 D RGD:11560485|PMID:22531706 20161108 RGD DNA:mutations:: 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:14791 Leber congenital amaurosis ISO RGD:1603852 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:1540 parathyroid carcinoma ISO RGD:1603852 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:630 genetic disease ISO RGD:1603852 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1603852 D RGD:11560484|PMID:17186464 20161108 RGD DNA:mutations:splice junction,cds: 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1614303 D RGD:11560484|PMID:17186464 20161108 RGD DNA:nonsense mutation:cds: 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:9008296 Eye Abnormalities ISO RGD:1603852 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:23308101|PMID:25741868|PMID:28492532 1593897 Rd3 RD3 regulator of GUCY2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603852 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1593929 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1346642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593929 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346642 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1593929 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer ISO RGD:1618153 D RGD:153305906|PMID:28502111 20220809 RGD 1593929 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346642 D RGD:153305906|PMID:28502111 20220809 RGD mRNA, protein:increased expression:colon (human) 1593938 Sik3 SIK family kinase 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:0080690 RASopathy ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:0111123 nephronophthisis 15 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 1593938 Sik3 SIK family kinase 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 1593938 Sik3 SIK family kinase 3 gene DOID:1059 intellectual disability ISO RGD:1603681 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1593938 Sik3 SIK family kinase 3 gene DOID:630 genetic disease ISO RGD:1603681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593938 Sik3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:7240710 20190315 OMIM 1593938 Sik3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type PMID:25741868|PMID:28492532|PMID:30232230 1593938 Sik3 SIK family kinase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603681 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1593938 Sik3 SIK family kinase 3 gene DOID:9007661 Dwarfism ISO RGD:1603681 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1593939 E2f2 E2F transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1348982 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1593939 E2f2 E2F transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348982 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1593939 E2f2 E2F transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593939 E2f2 E2F transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:1348982 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 1593939 E2f2 E2F transcription factor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1348982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1593939 E2f2 E2F transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1616520 D RGD:1300306|PMID:15146237 20180126 RGD E2f1/E2f2 double knockout 1593979 Zfp58 zinc finger protein 58 gene DOID:630 genetic disease ISO RGD:1349572 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1593983 Rab42 RAB42, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594018 Tspo2 translocator protein 2 gene DOID:630 genetic disease ISO RGD:1606125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594034 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1594034 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1594034 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1594034 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:630 genetic disease ISO RGD:1346609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594034 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1594034 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:9870 galactosemia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1594062 Rnf13 ring finger protein 13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1351392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 1594062 Rnf13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:7240710 20190417 OMIM 1594062 Rnf13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 PMID:25741868|PMID:28492532|PMID:30595371 1594062 Rnf13 ring finger protein 13 gene DOID:630 genetic disease ISO RGD:1351392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1594149 Tceal5 transcription elongation factor A like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354272 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1594149 Tceal5 transcription elongation factor A like 5 gene DOID:12849 autistic disorder ISO RGD:1354272 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594149 Tceal5 transcription elongation factor A like 5 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1354272 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 1594149 Tceal5 transcription elongation factor A like 5 gene DOID:630 genetic disease ISO RGD:1354272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594151 Gas2l3 growth arrest-specific 2 like 3 gene DOID:0080600 COVID-19 ISO RGD:1315710 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1594151 Gas2l3 growth arrest-specific 2 like 3 gene DOID:630 genetic disease ISO RGD:1315710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594161 Ccdc83 coiled-coil domain containing 83 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1606128 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 1594161 Ccdc83 coiled-coil domain containing 83 gene DOID:1059 intellectual disability ISO RGD:1606128 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594161 Ccdc83 coiled-coil domain containing 83 gene DOID:630 genetic disease ISO RGD:1606128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594165 Gnb1l G protein subunit beta 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1322292 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1594165 Gnb1l G protein subunit beta 1 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1594165 Gnb1l G protein subunit beta 1 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1594165 Gnb1l G protein subunit beta 1 like gene DOID:0111996 immunodeficiency 51 ISO RGD:1322292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1594165 Gnb1l G protein subunit beta 1 like gene DOID:1059 intellectual disability ISO RGD:1322292 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594165 Gnb1l G protein subunit beta 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1594165 Gnb1l G protein subunit beta 1 like gene DOID:11372 megacolon ISO RGD:1322292 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1594165 Gnb1l G protein subunit beta 1 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1594165 Gnb1l G protein subunit beta 1 like gene DOID:12849 autistic disorder ISO RGD:1322292 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594165 Gnb1l G protein subunit beta 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1322292 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 1594165 Gnb1l G protein subunit beta 1 like gene DOID:1826 epilepsy ISO RGD:1322292 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1594165 Gnb1l G protein subunit beta 1 like gene DOID:2213 hemorrhagic disease ISO RGD:1322292 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 1594165 Gnb1l G protein subunit beta 1 like gene DOID:5419 schizophrenia ISO RGD:1322292 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1594165 Gnb1l G protein subunit beta 1 like gene DOID:612 primary immunodeficiency disease ISO RGD:1322292 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1594165 Gnb1l G protein subunit beta 1 like gene DOID:630 genetic disease ISO RGD:1322292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594165 Gnb1l G protein subunit beta 1 like gene DOID:9003871 Venous Thrombosis ISO RGD:1322292 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 1594165 Gnb1l G protein subunit beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322292 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594165 Gnb1l G protein subunit beta 1 like gene DOID:9007661 Dwarfism ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1594165 Gnb1l G protein subunit beta 1 like gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1322292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1594167 Catsperd cation channel sperm associated auxiliary subunit delta gene DOID:630 genetic disease ISO RGD:1604493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:0050779 hydrolethalus syndrome ISO RGD:1606679 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:0060668 anencephaly ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:7240710 20130221 OMIM 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606679 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:5419 schizophrenia ISO RGD:1606679 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:630 genetic disease ISO RGD:1606679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1606679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606679 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1594169 Hyls1 HYLS1, centriolar and ciliogenesis associated gene DOID:9007661 Dwarfism ISO RGD:1606679 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1594172 Fam171a1 family with sequence similarity 171, member A1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313160 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1594172 Fam171a1 family with sequence similarity 171, member A1 gene DOID:630 genetic disease ISO RGD:1313160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594179 Dmwd DM1 locus, WD repeat containing gene DOID:630 genetic disease ISO RGD:1346083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594183 Nudt11 nudix hydrolase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343668 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1594183 Nudt11 nudix hydrolase 11 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1343668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 1594183 Nudt11 nudix hydrolase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 1594183 Nudt11 nudix hydrolase 11 gene DOID:12849 autistic disorder ISO RGD:1343668 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594183 Nudt11 nudix hydrolase 11 gene DOID:630 genetic disease ISO RGD:1343668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1352791 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11062482 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:1617601 D RGD:11561895|PMID:20641036 20161110 RGD 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:1682 congenital heart disease ISO RGD:1352791 D RGD:11561893|PMID:19853938 20161110 RGD DNA:mutations:3'UTR,exons: 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:219 colon cancer treatment ISO RGD:1352791 D RGD:11561894|PMID:15173016 20161110 RGD 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:3307 teratoma treatment ISO RGD:1617601 D RGD:11561895|PMID:20641036 20161110 RGD 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1352791 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12073012 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:630 genetic disease ISO RGD:1352791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1594185 Tdgf1 teratocarcinoma-derived growth factor 1 gene DOID:9003918 Forebrain Defects ISO RGD:1352791 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Forebrain defects PMID:11062482|PMID:12073012 1594187 Tmem139 transmembrane protein 139 gene DOID:630 genetic disease ISO RGD:1602298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594187 Tmem139 transmembrane protein 139 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1594202 Sgcb sarcoglycan, beta gene DOID:0050700 cardiomyopathy ISO RGD:1312050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 1594202 Sgcb sarcoglycan, beta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10993494|PMID:11369190|PMID:12746421|PMID:15032976|PMID:15938573|PMID:17994539|PMID:18285821|PMID:19770540|PMID:22095924|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:28492532|PMID:28889091|PMID:29797799|PMID:30838351|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 1594202 Sgcb sarcoglycan, beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:7240710 20130221 OMIM 1594202 Sgcb sarcoglycan, beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 PMID:10660328|PMID:10662809|PMID:10874299|PMID:10942431|PMID:10993494|PMID:11166169|PMID:11369190|PMID:12566530|PMID:12746421|PMID:12868499|PMID:15032976|PMID:15938573|PMID:15938574|PMID:16199547|PMID:16524571|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18996010|PMID:19763152|PMID:19770540|PMID:20071171|PMID:20307669|PMID:21480868|PMID:22095924|PMID:22406018|PMID:23349452|PMID:25135358|PMID:25337728|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:27108072|PMID:27234031|PMID:27276190|PMID:27671536|PMID:28403181|PMID:28492532|PMID:28687063|PMID:28883879|PMID:28889091|PMID:29797799|PMID:29970176|PMID:30564623|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31268554|PMID:31980526|PMID:32528171|PMID:32875335|PMID:33250842|PMID:34008892|PMID:7581448|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9536098|PMID:9565988|PMID:9631401 1594202 Sgcb sarcoglycan, beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312051 D RGD:13605614|PMID:10678176 20180611 RGD 1594202 Sgcb sarcoglycan, beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E treatment ISO RGD:1312050 D RGD:13605613|PMID:28284983 20180611 RGD 1594202 Sgcb sarcoglycan, beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312050 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 1594202 Sgcb sarcoglycan, beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12566530|PMID:15938573|PMID:25135358|PMID:25741868|PMID:25862795|PMID:28492532 1594202 Sgcb sarcoglycan, beta gene DOID:630 genetic disease ISO RGD:1312050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942431|PMID:10993494|PMID:11369190|PMID:17994539|PMID:18285821|PMID:18996010|PMID:20071171|PMID:22095924|PMID:23349452|PMID:25135358|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31980526|PMID:32528171|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 1594202 Sgcb sarcoglycan, beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1594202 Sgcb sarcoglycan, beta gene DOID:9884 muscular dystrophy ISO RGD:1312050 D RGD:9068941 20220825 RGD autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 PMID:9631401|REF_RGD_ID:1599343 1594215 Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:0060476 Perlman syndrome ISO RGD:1602396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 1594215 Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1602396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 1594215 Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:630 genetic disease ISO RGD:1602396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594221 Psca prostate stem cell antigen gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321185 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 1594221 Psca prostate stem cell antigen gene DOID:11054 urinary bladder cancer ISO RGD:1321185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648920|PMID:20083643 1594221 Psca prostate stem cell antigen gene DOID:1724 duodenal ulcer ISO RGD:1321185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 1594221 Psca prostate stem cell antigen gene DOID:4023 linitis plastica ISO RGD:1321185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488030 1594221 Psca prostate stem cell antigen gene DOID:630 genetic disease ISO RGD:1321185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594221 Psca prostate stem cell antigen gene DOID:9000217 Stomach Neoplasms ISO RGD:1321185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488030|PMID:26098866 1594221 Psca prostate stem cell antigen gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16015594 1594221 Psca prostate stem cell antigen gene DOID:9008114 Helicobacter Infections ISO RGD:1321185 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 1594228 Pcdhb20 protocadherin beta 20 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322463 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1594228 Pcdhb20 protocadherin beta 20 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594228 Pcdhb20 protocadherin beta 20 gene DOID:630 genetic disease ISO RGD:1322463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594228 Pcdhb20 protocadherin beta 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322463 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594228 Pcdhb20 protocadherin beta 20 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594230 Zfp322a zinc finger protein 322a gene DOID:630 genetic disease ISO RGD:1347331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594231 Zfp455l1 zinc finger protein 455 like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601992 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1594231 Zfp455l1 zinc finger protein 455 like 1 gene DOID:12849 autistic disorder ISO RGD:1601992 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594231 Zfp455l1 zinc finger protein 455 like 1 gene DOID:630 genetic disease ISO RGD:1601992 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594231 Zfp455l1 zinc finger protein 455 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601992 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594231 Zfp455l1 zinc finger protein 455 like 1 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1601992 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604954 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:0112265 iminoglycinuria ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:25741868|PMID:28492532 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:7240710 20130221 OMIM 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutral 1 amino acid transport defect PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:20399395|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease susceptibility ISO RGD:1555608 D RGD:1600035|PMID:15286787 20070226 RGD DNA:mutations 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:10763 hypertension IEP D RGD:1600036|PMID:17264310 20070226 RGD mRNA:increased expression 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:630 genetic disease ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:9002189 High Myopia ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:15286788|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1604954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 1594328 Slc6a19 solute carrier family 6 member 19 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:17576681|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877|PMID:30626930|PMID:9536098 1594330 Csf2ra colony stimulating factor 2 receptor subunit alpha gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1351351 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29484482 1594330 Csf2ra colony stimulating factor 2 receptor subunit alpha gene DOID:12849 autistic disorder ISO RGD:1351351 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594330 Csf2ra colony stimulating factor 2 receptor subunit alpha gene DOID:9005853 Pulmonary Surfactant Metabolism Dysfunction 4 ISO RGD:1351351 D RGD:7240710 20130731 OMIM 1594330 Csf2ra colony stimulating factor 2 receptor subunit alpha gene DOID:9005853 Pulmonary Surfactant Metabolism Dysfunction 4 ISO RGD:1351351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4 PMID:16199547|PMID:17576681|PMID:18955567|PMID:18955570|PMID:20622029|PMID:24033266|PMID:25425184|PMID:25741868|PMID:28492532|PMID:30124884|PMID:9536098 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1347904 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:12134 factor VIII deficiency ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:1347904 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:13628 favism ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:607 paraplegia ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1347904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 1594331 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1347904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 1594332 Cd99 CD99 molecule (Xg blood group) gene DOID:12849 autistic disorder ISO RGD:1344139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594332 Cd99 CD99 molecule (Xg blood group) gene DOID:3369 Ewing sarcoma ISO RGD:1344139 D RGD:8554872 20210216 ClinVar ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present PMID:25741868 1594332 Cd99 CD99 molecule (Xg blood group) gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1344139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 1594333 Rbm12 RNA binding motif protein 12 gene DOID:0080281 schizophrenia 19 ISO RGD:1343633 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Schizophrenia 19 PMID:28628109 1594333 Rbm12 RNA binding motif protein 12 gene DOID:0080281 schizophrenia 19 susceptibility ISO RGD:1343633 D RGD:7240710 20190502 OMIM 1594333 Rbm12 RNA binding motif protein 12 gene DOID:2468 psychotic disorder ISO RGD:1343633 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28628109 1594333 Rbm12 RNA binding motif protein 12 gene DOID:630 genetic disease ISO RGD:1343633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594366 Pom121l2 POM121 transmembrane nucleoporin-like 2 gene DOID:630 genetic disease ISO RGD:1343533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594367 Hist1h2ah histone cluster 1 H2A family member H gene DOID:630 genetic disease ISO RGD:1344301 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594374 Tektl1 tektin like 1 gene DOID:630 genetic disease ISO RGD:1602986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:7240710 20140911 OMIM 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 68 PMID:24670872|PMID:25741868|PMID:28492532|PMID:32036094 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:10003 sensorineural hearing loss ISS RGD:1622922 D RGD:13592920 20220519 MouseDO 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:1062 Fanconi syndrome ISO RGD:1605648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:1432 blindness ISS RGD:1622922 D RGD:13592920 20220519 MouseDO 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:630 genetic disease ISO RGD:1605648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32036094 1594375 Slc7a14 solute carrier family 7, member 14 gene DOID:8501 fundus dystrophy ISO RGD:1605648 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342584 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10944442|PMID:15269216|PMID:19364667|PMID:22033105|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31292494|PMID:31386302|PMID:32860008 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0080600 COVID-19 ISO RGD:1342584 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:7240710 20190213 OMIM 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10944442|PMID:11181577|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:17383918|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:33093004|PMID:34849584|PMID:9463323 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:14330 Parkinson's disease ISO RGD:1556886 D RGD:6484691|PMID:21383081 20120629 RGD 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3650 lactic acidosis ISO RGD:1342584 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868|PMID:33093004 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181577 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:6484662|PMID:22535952 20120628 RGD 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:6484669|PMID:12616398 20120629 RGD DNA:transition:intron:IVS1-1G>A (human) 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:6484698|PMID:19107570 20120702 RGD DNA:frameshift mutation:cds:c.426delA (human) 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:32860008|PMID:34849584|PMID:9463323 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:34849584|PMID:9463323 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1556886 D RGD:12914766|PMID:22653057 20170712 RGD 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1556886 D RGD:12914767|PMID:20534480 20170712 RGD 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:630 genetic disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11165261|PMID:19107570|PMID:19364667|PMID:20433953|PMID:20818383|PMID:24020637|PMID:25741868|PMID:28492532|PMID:28844695 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342584 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1556886 D RGD:6484689|PMID:18396137 20120629 RGD 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:936 brain disease ISO RGD:1342584 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 1594380 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9923 developmental coordination disorder ISO RGD:1342584 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 1594383 Ankrd34b ankyrin repeat domain 34B gene DOID:630 genetic disease ISO RGD:1604706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594383 Ankrd34b ankyrin repeat domain 34B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604706 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594385 Opn3 opsin 3 gene DOID:0080600 COVID-19 ISO RGD:1345705 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1594385 Opn3 opsin 3 gene DOID:0111261 fumarase deficiency ISO RGD:1345705 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 1594385 Opn3 opsin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1345705 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1594385 Opn3 opsin 3 gene DOID:630 genetic disease ISO RGD:1345705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594385 Opn3 opsin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345705 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594385 Opn3 opsin 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 1594385 Opn3 opsin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345705 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1594395 Prelid3b PRELI domain containing 3B gene DOID:630 genetic disease ISO RGD:1345443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594396 Trim25 tripartite motif-containing 25 gene DOID:0050777 Joubert syndrome ISO RGD:1343933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1594396 Trim25 tripartite motif-containing 25 gene DOID:630 genetic disease ISO RGD:1343933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594402 Tnxb tenascin XB gene DOID:0050553 JMP syndrome ISO RGD:1345578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1594402 Tnxb tenascin XB gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10408786|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14715874|PMID:15858147|PMID:17164306|PMID:1864962|PMID:19773403|PMID:20301350|PMID:21532487|PMID:23269230|PMID:23359698|PMID:23769969|PMID:24033266|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25741868|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28819757|PMID:29386111|PMID:29715434|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9378109 1594402 Tnxb tenascin XB gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1345578 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1594402 Tnxb tenascin XB gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1345578 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:11642233|PMID:11925569|PMID:12865992|PMID:15733269|PMID:1620134|PMID:20649799|PMID:20853426|PMID:23284009|PMID:23555315|PMID:23620400|PMID:23768946|PMID:24033266|PMID:24088041|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:28344932|PMID:30115950|PMID:31141158|PMID:31702543|PMID:31731524|PMID:32164334|PMID:32214361|PMID:9288108 1594402 Tnxb tenascin XB gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1345578 D RGD:1599494|PMID:11642233 20080903 RGD 1594402 Tnxb tenascin XB gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1345578 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11642233|PMID:15733269|PMID:20649799|PMID:20853426|PMID:23555315|PMID:23620400|PMID:24033266|PMID:24088041|PMID:25047945|PMID:25326637|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26275793|PMID:26408188|PMID:26633545|PMID:26662719|PMID:29590070|PMID:30975432|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 1594402 Tnxb tenascin XB gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:1345578 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:25326637|PMID:25741868 1594402 Tnxb tenascin XB gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345578 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 1594402 Tnxb tenascin XB gene DOID:630 genetic disease ISO RGD:1345578 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11642233|PMID:20649799|PMID:25741868|PMID:31702543 1594402 Tnxb tenascin XB gene DOID:9000781 Cyanosis ISO RGD:1345578 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cyanosis PMID:25741868 1594402 Tnxb tenascin XB gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:7240710 20170419 OMIM 1594402 Tnxb tenascin XB gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 8 PMID:23555315|PMID:23620400|PMID:24088041|PMID:25741868|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:27582382|PMID:27657687|PMID:30115950|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 1594402 Tnxb tenascin XB gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:10408786|PMID:10496074|PMID:10720040|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15110320|PMID:15858147|PMID:1644925|PMID:16788163|PMID:17119906|PMID:17164306|PMID:1864962|PMID:19204079|PMID:19505723|PMID:19773403|PMID:20301350|PMID:21134444|PMID:21169732|PMID:21228398|PMID:21329531|PMID:21532487|PMID:21534945|PMID:22841790|PMID:2303461|PMID:23166432|PMID:23241443|PMID:23269230|PMID:23359698|PMID:23359706|PMID:23769969|PMID:24033266|PMID:24077358|PMID:24904866|PMID:25227725|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25630015|PMID:25741868|PMID:26206692|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28741757|PMID:28819757|PMID:29386111|PMID:29715434|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9099839|PMID:9187661|PMID:9215318|PMID:9378109 1594402 Tnxb tenascin XB gene DOID:9620 vesicoureteral reflux ISO RGD:1345578 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1594480 Pcdha11 protocadherin alpha 11 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349379 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1594480 Pcdha11 protocadherin alpha 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349379 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594480 Pcdha11 protocadherin alpha 11 gene DOID:10487 Hirschsprung's disease ISO RGD:1349379 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 1594480 Pcdha11 protocadherin alpha 11 gene DOID:630 genetic disease ISO RGD:1349379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594480 Pcdha11 protocadherin alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349379 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594480 Pcdha11 protocadherin alpha 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349379 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1594480 Pcdha11 protocadherin alpha 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349379 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594486 Tcf20 transcription factor 20 gene DOID:0060041 autism spectrum disorder ISO RGD:69146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 1594486 Tcf20 transcription factor 20 gene DOID:0060041 autism spectrum disorder ISS RGD:1558109 D RGD:13592920 20210812 MouseDO 1594486 Tcf20 transcription factor 20 gene DOID:0080354 Phelan-McDermid syndrome ISS RGD:1558109 D RGD:13592920 20210812 MouseDO OMIM:606232 1594486 Tcf20 transcription factor 20 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 1594486 Tcf20 transcription factor 20 gene DOID:1059 intellectual disability ISO RGD:69146 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 1594486 Tcf20 transcription factor 20 gene DOID:12849 autistic disorder ISO RGD:69146 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 1594486 Tcf20 transcription factor 20 gene DOID:630 genetic disease ISO RGD:69146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30739909|PMID:31238879 1594486 Tcf20 transcription factor 20 gene DOID:9001510 Funnel Chest ISO RGD:69146 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 1594486 Tcf20 transcription factor 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1594486 Tcf20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30739909 1594486 Tcf20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:30739909 1594486 Tcf20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:7240710 20190710 OMIM 1594486 Tcf20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:25228304|PMID:25741868|PMID:27436265|PMID:28492532|PMID:30739909|PMID:30819258|PMID:30909959|PMID:31690835 1594486 Tcf20 transcription factor 20 gene DOID:9005603 Muscle Hypotonia ISO RGD:69146 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 1594486 Tcf20 transcription factor 20 gene DOID:9008086 Developmental Disabilities ISO RGD:69146 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 1594486 Tcf20 transcription factor 20 gene DOID:9008582 Developmental Disease ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1594520 Bltp3b bridge-like lipid transfer protein family member 3B gene DOID:630 genetic disease ISO RGD:1604632 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594520 Bltp3b bridge-like lipid transfer protein family member 3B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:0050699 Dent disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15108291|PMID:21031565|PMID:21971085|PMID:27398910|PMID:29300302 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350136 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:0080600 COVID-19 ISO RGD:1350136 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9430698 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:7240710 20130221 OMIM 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome PMID:10364518|PMID:10767176|PMID:10923037|PMID:11149618|PMID:14981612|PMID:15627218|PMID:16199547|PMID:16381338|PMID:17142121|PMID:17162149|PMID:17384968|PMID:17576681|PMID:17765681|PMID:18500547|PMID:19390221|PMID:19902262|PMID:20301653|PMID:21031565|PMID:21225285|PMID:21233288|PMID:21666675|PMID:22381590|PMID:22965764|PMID:23047739|PMID:24081861|PMID:24711037|PMID:24912603|PMID:25305077|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27059748|PMID:27625797|PMID:27708066|PMID:28492532|PMID:28669993|PMID:28803024|PMID:28973083|PMID:29300302|PMID:30773290|PMID:31672324|PMID:31674016|PMID:32712215|PMID:34125233|PMID:34139759|PMID:8504307|PMID:9199559|PMID:9536098|PMID:9632163|PMID:9682219|PMID:9788721 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:1059 intellectual disability ISO RGD:1350136 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:12849 autistic disorder ISO RGD:1350136 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:630 genetic disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:28492532 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:83 cataract ISO RGD:1350136 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:7240710 20130221 OMIM 1594526 Ocrl OCRL, inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:1321346|PMID:15627218|PMID:16381338|PMID:17162149|PMID:17384968|PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:24081861|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27625797|PMID:28018608|PMID:28492532|PMID:28803024|PMID:31674016|PMID:34125233|PMID:34139759|PMID:8504307 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603527 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1603527 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:630 genetic disease ISO RGD:1603527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1603527 D RGD:155663483|PMID:22660635 20221117 RGD mRNA, protein:increased expression:synovial (human) 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603527 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1603527 D RGD:155663483|PMID:22660635 20221117 RGD mRNA, protein:increased expression:kidney (human) 1594527 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1603527 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 1594529 Rad21 RAD21 cohesin complex component gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1317642 D RGD:150520028|PMID:16416296 20211022 RGD mRNA:decreased expression:oral cavity (human) 1594529 Rad21 RAD21 cohesin complex component gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1317642 D RGD:150520034|PMID:30546056 20211022 RGD mRNA, protein:increased expression:colorectum (human) 1594529 Rad21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:7240710 20140911 OMIM 1594529 Rad21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:17576681|PMID:18414213|PMID:22633399|PMID:24378232|PMID:25326637|PMID:25741868|PMID:27620904|PMID:27882533|PMID:28492532|PMID:30125677|PMID:30158690|PMID:30716475|PMID:31173765|PMID:31334757|PMID:32193685|PMID:32696056|PMID:9536098 1594529 Rad21 RAD21 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1317642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 1594529 Rad21 RAD21 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1317642 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 1594529 Rad21 RAD21 cohesin complex component gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1317642 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1594529 Rad21 RAD21 cohesin complex component gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1317642 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: De Lange syndrome 1594529 Rad21 RAD21 cohesin complex component gene DOID:1380 endometrial cancer onset ISO RGD:1317642 D RGD:329322876|PMID:25546926 20230424 RGD DNA:CNV: (human) 1594529 Rad21 RAD21 cohesin complex component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317642 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1594529 Rad21 RAD21 cohesin complex component gene DOID:206 hereditary multiple exostoses ISO RGD:1317642 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 1594529 Rad21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:lung (human) PMID:32178590|REF_RGD_ID:150520031 1594529 Rad21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1317642 D RGD:150520036|PMID:28977903 20211022 RGD DNA:SNP:intron: (rs1374297) (human) 1594529 Rad21 RAD21 cohesin complex component gene DOID:630 genetic disease ISO RGD:1317642 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22633399|PMID:24378232|PMID:25125236|PMID:25741868|PMID:27882533|PMID:28441377|PMID:28492532|PMID:31173765 1594529 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:150520035|PMID:32596342 20211022 RGD mRNA:increased expression:liver (human) 1594529 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD associated with hepatitis c, liver cirrhosis;mRNA:increased expression:liver (human) PMID:30698808|REF_RGD_ID:150520029 1594529 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317642 D RGD:150520026|PMID:33251678 20211022 RGD human cells in a mouse model 1594529 Rad21 RAD21 cohesin complex component gene DOID:7474 malignant pleural mesothelioma ISO RGD:1317642 D RGD:9068941 20211022 RGD PMID:19380173|REF_RGD_ID:150520037 1594529 Rad21 RAD21 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1317642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 1594529 Rad21 RAD21 cohesin complex component gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:243065262|PMID:33741460 20230414 RGD 1594529 Rad21 RAD21 cohesin complex component gene DOID:9002676 Cerebral Hemorrhage severity IMP D RGD:243065265|PMID:36538854 20230415 RGD 1594529 Rad21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:7240710 20190315 OMIM 1594529 Rad21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mungan syndrome PMID:14638363|PMID:18414213|PMID:25575569|PMID:25741868|PMID:28492532 1594529 Rad21 RAD21 cohesin complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 1594530 Csmd3 CUB and Sushi multiple domains 3 gene DOID:12849 autistic disorder ISO RGD:1316806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18270536 1594530 Csmd3 CUB and Sushi multiple domains 3 gene DOID:303 substance-related disorder ISO RGD:1316806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1594530 Csmd3 CUB and Sushi multiple domains 3 gene DOID:4450 renal cell carcinoma ISO RGD:1316806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 1594530 Csmd3 CUB and Sushi multiple domains 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316806 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 1594530 Csmd3 CUB and Sushi multiple domains 3 gene DOID:630 genetic disease ISO RGD:1316806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594531 Prdm2 PR/SET domain 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1594531 Prdm2 PR/SET domain 2 gene DOID:11054 urinary bladder cancer ISO RGD:1348506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 1594531 Prdm2 PR/SET domain 2 gene DOID:630 genetic disease ISO RGD:1348506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594531 Prdm2 PR/SET domain 2 gene DOID:670 amphetamine abuse ISO RGD:1348506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1594531 Prdm2 PR/SET domain 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17103461 1594531 Prdm2 PR/SET domain 2 gene DOID:9006836 Contracture ISO RGD:1348506 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 1594532 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:12849 autistic disorder ISO RGD:1315018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 1594532 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:630 genetic disease ISO RGD:1315018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594532 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:769 neuroblastoma ISO RGD:1315018 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 1594532 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:9000918 Disease Progression ISO RGD:1315018 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 1594532 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:9480236|PMID:19609968 20140908 RGD protein:decreased expression:liver, cytosolic proteasome complex (rat) 1594539 Ang angiogenin gene DOID:0050589 inflammatory bowel disease ISO RGD:1349500 D RGD:6892712|PMID:20629092 20120814 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:0060074 ductal carcinoma in situ ISO RGD:1349500 D RGD:2325702|PMID:15776477 20100607 RGD protein:increased expression:breast 1594539 Ang angiogenin gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:1349500 D RGD:7240710 20140205 OMIM 1594539 Ang angiogenin gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:1349500 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 PMID:16501576|PMID:17462671|PMID:17703939|PMID:17886298|PMID:17900154|PMID:18087731|PMID:18852347|PMID:19153377|PMID:19363631|PMID:19444281|PMID:19449021|PMID:19488901|PMID:20577002|PMID:22190368|PMID:22292843|PMID:22384259|PMID:22499346|PMID:22522484|PMID:22645277|PMID:22722621|PMID:23047679|PMID:23155438|PMID:23393617|PMID:23447461|PMID:23463871|PMID:23665167|PMID:25382069|PMID:25741868|PMID:26255299|PMID:26467025|PMID:26551617|PMID:26777436|PMID:28444446|PMID:28492532|PMID:29525178|PMID:30188356|PMID:31368019|PMID:31432357|PMID:32111867|PMID:32579787|PMID:32951934 1594539 Ang angiogenin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1349500 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:17703939|PMID:18087731|PMID:22190368|PMID:25741868|PMID:28492532 1594539 Ang angiogenin gene DOID:0080600 COVID-19 ISO RGD:1349500 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1594539 Ang angiogenin gene DOID:0080855 Parkinsonism ISO RGD:1558200 D RGD:6892711|PMID:21091473 20120814 RGD 1594539 Ang angiogenin gene DOID:10283 prostate cancer ISO RGD:1349500 D RGD:2325697|PMID:19276260 20100607 RGD 1594539 Ang angiogenin gene DOID:10283 prostate cancer ISO RGD:1349500 D RGD:2325707|PMID:11948474 20100607 RGD 1594539 Ang angiogenin gene DOID:10652 Alzheimer's disease severity ISO RGD:1349500 D RGD:6892705|PMID:22449478 20120814 RGD protein:decreased expression:serum 1594539 Ang angiogenin gene DOID:11054 urinary bladder cancer ISO RGD:1349500 D RGD:2325700|PMID:15912517 20100607 RGD protein:increased expression:plasma 1594539 Ang angiogenin gene DOID:11054 urinary bladder cancer ISO RGD:1349500 D RGD:2325704|PMID:15329320 20100607 RGD protein:increased expression:urine 1594539 Ang angiogenin gene DOID:1380 endometrial cancer ISO RGD:1349500 D RGD:2317659|PMID:9119882 20100607 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:13922 eosinophilic esophagitis ISO RGD:1349500 D RGD:6771318|PMID:22331014 20120814 RGD 1594539 Ang angiogenin gene DOID:14330 Parkinson's disease ISO RGD:1349500 D RGD:6892707|PMID:22190368 20120814 RGD DNA:mutations:multiple 1594539 Ang angiogenin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349500 D RGD:2325716|PMID:8665497 20100607 RGD mRNA, protein:increased expression:pancreas, serum 1594539 Ang angiogenin gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155663419|PMID:30258350 20221116 RGD 1594539 Ang angiogenin gene DOID:2394 ovarian cancer ISO RGD:1349500 D RGD:2317660|PMID:9166545 20100607 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:2841 asthma severity ISO RGD:1349500 D RGD:6892719|PMID:16478840 20120814 RGD protein:increased expression:sputum 1594539 Ang angiogenin gene DOID:289 endometriosis ISO RGD:1349500 D RGD:2325705|PMID:14748845 20100607 RGD 1594539 Ang angiogenin gene DOID:289 endometriosis ISO RGD:1349500 D RGD:6892724|PMID:15236995 20120814 RGD 1594539 Ang angiogenin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349500 D RGD:6892708|PMID:21916917 20120814 RGD protein:increased expression:sputum 1594539 Ang angiogenin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349500 D RGD:6892707|PMID:22190368 20120814 RGD DNA:mutations:multiple 1594539 Ang angiogenin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349500 D RGD:6892713|PMID:19177252 20120814 RGD protein:increased expression:cerebrospinal fluid 1594539 Ang angiogenin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349500 D RGD:6892718|PMID:16501576 20120814 RGD DNA:missense mutations 1594539 Ang angiogenin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349500 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 1594539 Ang angiogenin gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:1349500 D RGD:6892716|PMID:17462671 20120814 RGD DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human) 1594539 Ang angiogenin gene DOID:3526 cerebral infarction severity ISO RGD:1349500 D RGD:6892714|PMID:17823536 20120814 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:4085 trophoblastic neoplasm ISO RGD:1349500 D RGD:2325706|PMID:12705339 20100607 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:4362 cervical cancer ISO RGD:1349500 D RGD:2325708|PMID:11299848 20100607 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:4450 renal cell carcinoma ISO RGD:1349500 D RGD:2325699|PMID:18808740 20100607 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:4483 rhinitis ISO RGD:1349500 D RGD:6892723|PMID:19178538 20120814 RGD protein:increased expression:sputum 1594539 Ang angiogenin gene DOID:5119 ovarian cyst ISO RGD:1349500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1594539 Ang angiogenin gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1594539 Ang angiogenin gene DOID:5844 myocardial infarction ISO RGD:1349500 D RGD:2325719|PMID:18462761 20100607 RGD 1594539 Ang angiogenin gene DOID:630 genetic disease ISO RGD:1349500 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1594539 Ang angiogenin gene DOID:7148 rheumatoid arthritis ISO RGD:1349500 D RGD:6892721|PMID:12653852 20120814 RGD 1594539 Ang angiogenin gene DOID:8634 prostate carcinoma in situ ISO RGD:1558200 D RGD:2325697|PMID:19276260 20100607 RGD 1594539 Ang angiogenin gene DOID:8947 diabetic retinopathy ISO RGD:1349500 D RGD:2307061|PMID:18978347 20120814 RGD associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor 1594539 Ang angiogenin gene DOID:9001472 Nasal Polyps ISO RGD:1349500 D RGD:6892710|PMID:21711968 20120814 RGD 1594539 Ang angiogenin gene DOID:9004009 Reperfusion Injury IEP D RGD:2325717|PMID:19666176 20100607 RGD protein:increased expression:brain 1594539 Ang angiogenin gene DOID:9004017 Chronic Hepatitis C ISO RGD:1349500 D RGD:6892709|PMID:21848603 20120814 RGD 1594539 Ang angiogenin gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1349500 D RGD:2325710|PMID:10421268 20100607 RGD protein:increased expression:serum 1594539 Ang angiogenin gene DOID:9004713 Acute-Phase Reaction ISO RGD:1349500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9464241 1594539 Ang angiogenin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349500 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1594539 Ang angiogenin gene DOID:9008939 Breast Neoplasms ISO RGD:1349500 D RGD:2325714|PMID:9539780 20100607 RGD 1594539 Ang angiogenin gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1349500 D RGD:2325702|PMID:15776477 20100607 RGD protein:increased expression:breast 1594539 Ang angiogenin gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1349500 D RGD:2325712|PMID:9748135 20100607 RGD protein:increased expression:breast 1594539 Ang angiogenin gene DOID:9255 frontotemporal dementia ISO RGD:1349500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 1594539 Ang angiogenin gene DOID:9970 obesity ISO RGD:1558200 D RGD:6892722|PMID:22748184 20120814 RGD protein:increased expression:adipose tissue 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29987844|PMID:30194485 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1348983 D RGD:153297765|PMID:28218421 20220721 RGD DNA:SNP:CDS:rs4077170 (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1324 lung cancer severity ISO RGD:1348983 D RGD:11567235|PMID:17855454 20220221 RGD DNA:missense mutation:CDS:p.A252V (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:151347650|PMID:29559562 20220131 RGD DNA:missense mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:151347857|PMID:29659608 20220204 RGD DNA:missense mutations:CDS:p.P286R, p.V411L (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:increased expression:endometrium (human) PMID:31866764|REF_RGD_ID:151347644 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer onset ISO RGD:1348983 D RGD:151347645|PMID:25224212 20220131 RGD DNA:polymorphisms:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25111073|PMID:25224212|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34347074 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:21701589|PMID:23263490|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28873162|PMID:29458332|PMID:29641532|PMID:30267214|PMID:30503519|PMID:33558524 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer onset ISO RGD:1348983 D RGD:151347649|PMID:28404093 20220131 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:151347640|PMID:27612425 20220131 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:151347651|PMID:33125191 20220131 RGD DNA:mutations:multiple (human, non-Asian) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:219 colon cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1348983 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:26467025|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2661 myoepithelioma ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:151347856|PMID:23528559 20220204 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:27217144|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3068 glioblastoma ISO RGD:1348983 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25228659|PMID:26619011|PMID:29352080 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:363 uterine cancer ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532|PMID:29352080 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3717 gastric adenocarcinoma ISO RGD:1348983 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25228659|PMID:26619011|PMID:29352080 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1348983 D RGD:151347653|PMID:29650000 20220131 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1348983 D RGD:151347639|PMID:32433714 20220131 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:6171 uterine carcinosarcoma ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:630 genetic disease ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:29056344 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:7240710 20190315 OMIM 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency PMID:14760276|PMID:16835919|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:29056344|PMID:29754823|PMID:30503519|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrioid adenocarcinoma PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ameliorates ISO RGD:1348983 D RGD:151347648|PMID:29505428 20220131 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:7240710 20190315 OMIM 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature PMID:16699561|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24501277|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25741868|PMID:25948378|PMID:26302956|PMID:26467025|PMID:27683556|PMID:28050010|PMID:28492532|PMID:29755653|PMID:29758562|PMID:30049826|PMID:30362666|PMID:30503519|PMID:30827058|PMID:32424176|PMID:32546565|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23263490|PMID:26053496 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:151347647|PMID:30086056 20220131 RGD DNA:missense mutation:CDS, exon9:p.E277G, c.830A (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532|PMID:29352080 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:24844595|PMID:26619011|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:23447401|PMID:24525744|PMID:24844595|PMID:25228659|PMID:26619011|PMID:28492532 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:151356952|PMID:24788313 20220221 RGD DNA:missense mutation:CDS:p.N363K (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:7240710 20230505 OMIM 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32792570|PMID:32885271|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer exacerbates ISO RGD:1348983 D RGD:151347642|PMID:25124163 20220131 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer onset ISO RGD:1348983 D RGD:151356953|PMID:27244218 20220221 RGD DNA:mutations:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer severity ISO RGD:1348983 D RGD:151347638|PMID:32859741 20220131 RGD DNA:missense mutation:CDS:multiple (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:151347640|PMID:27612425 20220131 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) 1594540 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:151347652|PMID:29120461 20220131 RGD DNA:missense mutation:CDS:p.L424V (human) 1594541 Ttc28 tetratricopeptide repeat domain 28 gene DOID:630 genetic disease ISO RGD:1601773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1594541 Ttc28 tetratricopeptide repeat domain 28 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1601773 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1594542 Myo18b myosin XVIIIb gene DOID:0060224 atrial fibrillation ISO RGD:1349934 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1594542 Myo18b myosin XVIIIb gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:7240710 20191225 OMIM 1594542 Myo18b myosin XVIIIb gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism PMID:17576681|PMID:25741868|PMID:25748484|PMID:26752647|PMID:27858739|PMID:28492532|PMID:31195167|PMID:31230720|PMID:32184166|PMID:32637634|PMID:33179433|PMID:9536098 1594542 Myo18b myosin XVIIIb gene DOID:0110271 cataract 23 ISO RGD:1349934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 1594542 Myo18b myosin XVIIIb gene DOID:0111406 Fraser syndrome 3 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 1594542 Myo18b myosin XVIIIb gene DOID:10426 Klippel-Feil syndrome ISO RGD:1349934 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:25741868 1594542 Myo18b myosin XVIIIb gene DOID:630 genetic disease ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1594542 Myo18b myosin XVIIIb gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349934 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 1594542 Myo18b myosin XVIIIb gene DOID:9003566 Mesothelioma ISO RGD:1349934 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17294804 1594542 Myo18b myosin XVIIIb gene DOID:9005172 Lung Neoplasms ISO RGD:1349934 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 1594548 Clxn calaxin gene DOID:0111961 immunodeficiency 26 ISO RGD:1603006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 1594548 Clxn calaxin gene DOID:630 genetic disease ISO RGD:1603006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594556 Tnfaip2 TNF alpha induced protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1594556 Tnfaip2 TNF alpha induced protein 2 gene DOID:630 genetic disease ISO RGD:1312234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594556 Tnfaip2 TNF alpha induced protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 1594556 Tnfaip2 TNF alpha induced protein 2 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 1594557 Cfp complement factor properdin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351689 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 1594557 Cfp complement factor properdin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351689 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1594557 Cfp complement factor properdin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1594557 Cfp complement factor properdin gene DOID:0080176 meningococcal meningitis ISO RGD:1351689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8530058|PMID:10909851 1594557 Cfp complement factor properdin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1594557 Cfp complement factor properdin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1594557 Cfp complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8530058|PMID:10909851 1594557 Cfp complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:7240710 20190315 OMIM 1594557 Cfp complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III PMID:10909851|PMID:25741868|PMID:28492532|PMID:3380115|PMID:7151327|PMID:8530058|PMID:8871668 1594557 Cfp complement factor properdin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 1594557 Cfp complement factor properdin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1594557 Cfp complement factor properdin gene DOID:12134 factor VIII deficiency ISO RGD:1351689 D RGD:11041156|PMID:6912882 20160322 RGD protein:increased expression:blood 1594557 Cfp complement factor properdin gene DOID:12849 autistic disorder ISO RGD:1351689 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594557 Cfp complement factor properdin gene DOID:630 genetic disease ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1594557 Cfp complement factor properdin gene DOID:684 hepatocellular carcinoma ISO RGD:1351689 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1594557 Cfp complement factor properdin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351689 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1594560 Abitram actin binding transcription modulator gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1352417 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 1594560 Abitram actin binding transcription modulator gene DOID:630 genetic disease ISO RGD:1352417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594565 Trmt10a tRNA methyltransferase 10A gene DOID:630 genetic disease ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24204302|PMID:25053765|PMID:26526202|PMID:26535115|PMID:28492532 1594565 Trmt10a tRNA methyltransferase 10A gene DOID:9006534 Nervous System Malformations ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24204302|PMID:25741868|PMID:26535115|PMID:28492532 1594565 Trmt10a tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:7240710 20170510 OMIM 1594565 Trmt10a tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 PMID:24204302|PMID:25053765|PMID:25741868|PMID:26535115|PMID:28492532 1594571 Pepd peptidase D gene DOID:0050117 disease by infectious agent ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 1594571 Pepd peptidase D gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1594571 Pepd peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1972707|PMID:16470701 1594571 Pepd peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:7240710 20130221 OMIM 1594571 Pepd peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prolidase deficiency PMID:10721675|PMID:12384772|PMID:15309682|PMID:16199547|PMID:16470701|PMID:1688567|PMID:17142620|PMID:17576681|PMID:19308961|PMID:1972707|PMID:2010534|PMID:23516557|PMID:2365824|PMID:24033266|PMID:25460580|PMID:25741868|PMID:27067078|PMID:28062424|PMID:28492532|PMID:29943458|PMID:33877262|PMID:6637477|PMID:8198124|PMID:8900231|PMID:9536098 1594571 Pepd peptidase D gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:11075 D RGD:13592920 20180518 MouseDO 1594571 Pepd peptidase D gene DOID:1579 respiratory system disease ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 1594571 Pepd peptidase D gene DOID:630 genetic disease ISO RGD:1354493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1594571 Pepd peptidase D gene DOID:8549 chronic ulcer of skin ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 1594571 Pepd peptidase D gene DOID:9002720 Splenomegaly ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 1594571 Pepd peptidase D gene DOID:9005292 Organophosphate Poisoning ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22982776 1594571 Pepd peptidase D gene DOID:9005369 Hepatomegaly ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 1594571 Pepd peptidase D gene DOID:9008086 Developmental Disabilities ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 1594571 Pepd peptidase D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 1594583 C1ql2 complement C1q like 2 gene DOID:630 genetic disease ISO RGD:1350440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594584 C13h2orf76 similar to chromosome 2 open reading frame 76 gene DOID:630 genetic disease ISO RGD:1606162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594589 Mest mesoderm specific transcript gene DOID:0050476 Barth syndrome ISS RGD:1621604 D RGD:13592920 20180518 MouseDO OMIM:302060 1594589 Mest mesoderm specific transcript gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345318 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1594589 Mest mesoderm specific transcript gene DOID:630 genetic disease ISO RGD:1345318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594589 Mest mesoderm specific transcript gene DOID:9004657 Weight Gain ISO RGD:1345318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 1594589 Mest mesoderm specific transcript gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345318 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1594591 Fbrs fibrosin gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1342852 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1594591 Fbrs fibrosin gene DOID:630 genetic disease ISO RGD:1342852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594591 Fbrs fibrosin gene DOID:9007661 Dwarfism ISO RGD:1342852 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 1594592 Prr14 proline rich 14 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604599 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1594592 Prr14 proline rich 14 gene DOID:630 genetic disease ISO RGD:1604599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594597 Atp8a2 ATPase phospholipid transporting 8A2 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1344629 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 1594597 Atp8a2 ATPase phospholipid transporting 8A2 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1344629 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:25741868 1594597 Atp8a2 ATPase phospholipid transporting 8A2 gene DOID:1826 epilepsy ISO RGD:1344629 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epilepsy 1594597 Atp8a2 ATPase phospholipid transporting 8A2 gene DOID:630 genetic disease ISO RGD:1344629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28454995|PMID:28492532|PMID:29531481|PMID:31612321 1594597 Atp8a2 ATPase phospholipid transporting 8A2 gene DOID:9006313 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ISO RGD:1344629 D RGD:7240710 20140911 OMIM 1594597 Atp8a2 ATPase phospholipid transporting 8A2 gene DOID:9006313 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ISO RGD:1344629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 PMID:16199547|PMID:18326629|PMID:22892528|PMID:25741868|PMID:28454995|PMID:28492532|PMID:29531481|PMID:31397519|PMID:31612321 1594599 Zfp764l1 zinc finger protein 764 like 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 1594599 Zfp764l1 zinc finger protein 764 like 1 gene DOID:630 genetic disease ISO RGD:1606477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594620 Pygo1 pygopus family PHD finger 1 gene DOID:2717 Bloom syndrome ISO RGD:1346093 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1594620 Pygo1 pygopus family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1346093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594620 Pygo1 pygopus family PHD finger 1 gene DOID:9256 colorectal cancer ISO RGD:1346093 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:0060041 autism spectrum disorder ISO RGD:1321106 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321106 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:12849 autistic disorder ISO RGD:1321106 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:14330 Parkinson's disease ISS RGD:1321107 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:3652 Leigh disease ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:23814038|PMID:25741868|PMID:28492532|PMID:9536098 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12928484|PMID:17576681|PMID:23814038|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:3762 cytochrome-c oxidase deficiency disease ISS RGD:1321107 D RGD:13592920 20201029 MouseDO OMIM:220110 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:5419 schizophrenia ISO RGD:1321106 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:630 genetic disease ISO RGD:1321106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:699 mitochondrial myopathy ISS RGD:1321107 D RGD:13592920 20180518 MouseDO OMIM:251900 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1321106 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh PMID:25741868|PMID:28492532 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9005748 Mitochondrial Complex IV Deficiency, Nuclear Type 3 ISO RGD:1321106 D RGD:7240710 20201111 OMIM 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9005748 Mitochondrial Complex IV Deficiency, Nuclear Type 3 ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 PMID:10767350|PMID:12928484|PMID:15455402|PMID:25741868|PMID:28492532|PMID:32313153 1594623 Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12928484|PMID:25741868|PMID:28492532|PMID:32313153 1594626 Pierce2 piercer of microtubule wall 2 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:7245658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 1594626 Pierce2 piercer of microtubule wall 2 gene DOID:2717 Bloom syndrome ISO RGD:7245658 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1594626 Pierce2 piercer of microtubule wall 2 gene DOID:9256 colorectal cancer ISO RGD:7245658 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1594632 Maz MYC associated zinc finger protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1594632 Maz MYC associated zinc finger protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315360 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 1594632 Maz MYC associated zinc finger protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1315360 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 1594632 Maz MYC associated zinc finger protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315360 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 1594632 Maz MYC associated zinc finger protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1594632 Maz MYC associated zinc finger protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315360 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 1594632 Maz MYC associated zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1315360 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1594632 Maz MYC associated zinc finger protein gene DOID:1882 atrial heart septal defect ISO RGD:1315360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 1594632 Maz MYC associated zinc finger protein gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1594632 Maz MYC associated zinc finger protein gene DOID:5419 schizophrenia ISO RGD:1315360 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1594632 Maz MYC associated zinc finger protein gene DOID:630 genetic disease ISO RGD:1315360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594632 Maz MYC associated zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315360 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594632 Maz MYC associated zinc finger protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 1594632 Maz MYC associated zinc finger protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1315360 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 1594637 Kctd4 potassium channel tetramerization domain containing 4 gene DOID:630 genetic disease ISO RGD:1353413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594649 Bsph1 binder of sperm protein homolog 1 gene DOID:630 genetic disease ISO RGD:2306586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594654 Mrpl57 mitochondrial ribosomal protein L57 gene DOID:630 genetic disease ISO RGD:1321750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594658 Pla2g4c phospholipase A2 group IVC gene DOID:630 genetic disease ISO RGD:1348684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594660 C2h4orf3 similar to human chromosome 4 open reading frame 3 gene DOID:630 genetic disease ISO RGD:1604907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594660 C2h4orf3 similar to human chromosome 4 open reading frame 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604907 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594666 Mxra7 matrix remodeling associated 7 gene DOID:630 genetic disease ISO RGD:1348883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594678 Ankrd40 ankyrin repeat domain 40 gene DOID:630 genetic disease ISO RGD:1602991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594679 Alyref Aly/REF export factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1594679 Alyref Aly/REF export factor gene DOID:630 genetic disease ISO RGD:1322669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:0080600 COVID-19 ISO RGD:1318064 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1318064 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:2224 essential thrombocythemia ISO RGD:1318064 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:4971 myelofibrosis ISO RGD:1318064 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318064 D RGD:1599360|PMID:10077617 20070201 RGD mRNA:increased expression:peripheral blood lymphocyte (human) 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:630 genetic disease ISO RGD:1318064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:9004189 T-Cell Lymphoma 1A ISO RGD:1318064 D RGD:7240710 20221123 OMIM 1594686 Tcl1a Tcl1 family Akt coactivator A gene DOID:9119 acute myeloid leukemia ISO RGD:1318064 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 1594713 Adam30 ADAM metallopeptidase domain 30 gene DOID:0050722 PHGDH deficiency ISO RGD:1314448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 1594713 Adam30 ADAM metallopeptidase domain 30 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1314448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 1594713 Adam30 ADAM metallopeptidase domain 30 gene DOID:630 genetic disease ISO RGD:1314448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594715 Cby3 chibby family member 3 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1605449 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 1594715 Cby3 chibby family member 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1594715 Cby3 chibby family member 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1605449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 1594715 Cby3 chibby family member 3 gene DOID:630 genetic disease ISO RGD:1605449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594720 Scai suppressor of cancer cell invasion gene DOID:630 genetic disease ISO RGD:1316447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1323347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:1059 intellectual disability ISO RGD:1323347 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1323347 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:630 genetic disease ISO RGD:1323347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323347 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1594728 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1594738 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1603623 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 1594738 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:1793 pancreatic cancer ISO RGD:1603623 D RGD:2302550|PMID:17726579 20081229 RGD 1594738 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603623 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1594738 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1603623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594738 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10412063|PMID:23595775 20151113 RGD protein:increased expression:spinal cord 1594738 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1603623 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 1594742 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315312 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1594742 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1594742 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1594742 Ttll4 tubulin tyrosine ligase like 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1594742 Ttll4 tubulin tyrosine ligase like 4 gene DOID:630 genetic disease ISO RGD:1315312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594742 Ttll4 tubulin tyrosine ligase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315312 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594749 Kpna7 karyopherin subunit alpha 7 gene DOID:1059 intellectual disability ISO RGD:2306472 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:24088041|PMID:26633545|PMID:28492532 1594749 Kpna7 karyopherin subunit alpha 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306472 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1594749 Kpna7 karyopherin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:2306472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1594749 Kpna7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:7240710 20230505 OMIM 1594749 Kpna7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 PMID:28492532|PMID:36647821 1594757 Mis18bp1 MIS18 binding protein 1 gene DOID:630 genetic disease ISO RGD:1313558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594757 Mis18bp1 MIS18 binding protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313558 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1594778 Myoz3 myozenin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594778 Myoz3 myozenin 3 gene DOID:630 genetic disease ISO RGD:1318422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594778 Myoz3 myozenin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594795 Adgrd1 adhesion G protein-coupled receptor D1 gene DOID:630 genetic disease ISO RGD:1344919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594796 Tpd52l1 TPD52 like 1 gene DOID:630 genetic disease ISO RGD:1320807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594796 Tpd52l1 TPD52 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1594799 Nbeal1 neurobeachin-like 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1594799 Nbeal1 neurobeachin-like 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1594799 Nbeal1 neurobeachin-like 1 gene DOID:1059 intellectual disability ISO RGD:1349211 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594799 Nbeal1 neurobeachin-like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1594799 Nbeal1 neurobeachin-like 1 gene DOID:3393 coronary artery disease ISO RGD:1349211 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 1594799 Nbeal1 neurobeachin-like 1 gene DOID:630 genetic disease ISO RGD:1349211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594799 Nbeal1 neurobeachin-like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349211 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 1594799 Nbeal1 neurobeachin-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349211 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594799 Nbeal1 neurobeachin-like 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:2303680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:2303680 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA PMID:28492532 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:2303680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:630 genetic disease ISO RGD:2303680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303680 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594804 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594806 Styx serine/threonine/tyrosine interacting protein gene DOID:630 genetic disease ISO RGD:1312345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594820 Nxnl2 nucleoredoxin-like 2 gene DOID:630 genetic disease ISO RGD:1351751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594826 Ube2r2 ubiquitin-conjugating enzyme E2R 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1594826 Ube2r2 ubiquitin-conjugating enzyme E2R 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1594826 Ube2r2 ubiquitin-conjugating enzyme E2R 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1594826 Ube2r2 ubiquitin-conjugating enzyme E2R 2 gene DOID:630 genetic disease ISO RGD:1321905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594826 Ube2r2 ubiquitin-conjugating enzyme E2R 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1594826 Ube2r2 ubiquitin-conjugating enzyme E2R 2 gene DOID:9870 galactosemia ISO RGD:1321905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1594842 Spdef SAM pointed domain containing ets transcription factor gene DOID:0050553 JMP syndrome ISO RGD:1318473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1594842 Spdef SAM pointed domain containing ets transcription factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1318473 D RGD:2298935|PMID:18567002 20080804 RGD mRNA, protein:decreased expression:ovary 1594842 Spdef SAM pointed domain containing ets transcription factor gene DOID:630 genetic disease ISO RGD:1318473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594842 Spdef SAM pointed domain containing ets transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:1318473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18567002 1594845 Prob1 proline-rich basic protein 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:5486560 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1594845 Prob1 proline-rich basic protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594845 Prob1 proline-rich basic protein 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:5486560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 1594845 Prob1 proline-rich basic protein 1 gene DOID:630 genetic disease ISO RGD:5486560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1594845 Prob1 proline-rich basic protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:5486560 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Keratoconus 1 1594845 Prob1 proline-rich basic protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5486560 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1594845 Prob1 proline-rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 1594845 Prob1 proline-rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1594860 Saa3 serum amyloid A 3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1606985 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 1594860 Saa3 serum amyloid A 3 gene DOID:1059 intellectual disability ISO RGD:1606985 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594860 Saa3 serum amyloid A 3 gene DOID:630 genetic disease ISO RGD:1606985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594965 Or5d18 olfactory receptor family 5 subfamily D member 18 gene DOID:1059 intellectual disability ISO RGD:1345975 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594965 Or5d18 olfactory receptor family 5 subfamily D member 18 gene DOID:630 genetic disease ISO RGD:1345975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594968 Ms4a5 membrane spanning 4-domains A5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1594968 Ms4a5 membrane spanning 4-domains A5 gene DOID:1059 intellectual disability ISO RGD:1350963 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1594968 Ms4a5 membrane spanning 4-domains A5 gene DOID:630 genetic disease ISO RGD:1350963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1594988 Or52w1 olfactory receptor family 52 subfamily W member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353462 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 1594988 Or52w1 olfactory receptor family 52 subfamily W member 1 gene DOID:630 genetic disease ISO RGD:1353462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595037 Sinhcaf SIN3-HDAC complex associated factor gene DOID:4905 pancreatic carcinoma ISO RGD:1347576 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35213078 1595038 Tbl2 transducin (beta)-like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354068 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1595038 Tbl2 transducin (beta)-like 2 gene DOID:0080600 COVID-19 ISO RGD:1354068 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1595038 Tbl2 transducin (beta)-like 2 gene DOID:10907 microcephaly ISO RGD:1354068 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1595038 Tbl2 transducin (beta)-like 2 gene DOID:10923 sickle cell anemia ISO RGD:1354068 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1595038 Tbl2 transducin (beta)-like 2 gene DOID:12849 autistic disorder ISO RGD:1354068 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595038 Tbl2 transducin (beta)-like 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1354068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1595038 Tbl2 transducin (beta)-like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354068 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1595038 Tbl2 transducin (beta)-like 2 gene DOID:5419 schizophrenia ISO RGD:1354068 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1595038 Tbl2 transducin (beta)-like 2 gene DOID:630 genetic disease ISO RGD:1354068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595038 Tbl2 transducin (beta)-like 2 gene DOID:8445 intestinal volvulus ISO RGD:1354068 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1595038 Tbl2 transducin (beta)-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354068 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595038 Tbl2 transducin (beta)-like 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1354068 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:3652 Leigh disease ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:630 genetic disease ISO RGD:1352865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595050 Ppp1r26 protein phosphatase 1, regulatory subunit 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 1595054 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1595054 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:12849 autistic disorder ISO RGD:6771193 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595054 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:630 genetic disease ISO RGD:6771193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595054 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771193 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595054 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1595063 S100a14 S100 calcium binding protein A14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1595063 S100a14 S100 calcium binding protein A14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1595063 S100a14 S100 calcium binding protein A14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1595063 S100a14 S100 calcium binding protein A14 gene DOID:1540 parathyroid carcinoma ISO RGD:1344968 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1595063 S100a14 S100 calcium binding protein A14 gene DOID:5812 MHC class II deficiency ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1595063 S100a14 S100 calcium binding protein A14 gene DOID:630 genetic disease ISO RGD:1344968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595063 S100a14 S100 calcium binding protein A14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344968 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1595064 Rnf180 ring finger protein 180 gene DOID:630 genetic disease ISO RGD:1347772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595064 Rnf180 ring finger protein 180 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347772 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595064 Rnf180 ring finger protein 180 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1347772 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 1595070 Dppa4 developmental pluripotency associated 4 gene DOID:10283 prostate cancer ISO RGD:1343152 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1595074 Ankrd13c ankyrin repeat domain 13C gene DOID:1059 intellectual disability ISO RGD:1604586 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1595074 Ankrd13c ankyrin repeat domain 13C gene DOID:630 genetic disease ISO RGD:1604586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595088 En1 engrailed homeobox 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1595088 En1 engrailed homeobox 1 gene DOID:0080855 Parkinsonism ISO RGD:1618434 D RGD:5687199|PMID:17015829 20120206 RGD 1595088 En1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1351603 D RGD:5687197|PMID:19345444 20120206 RGD DNA:SNP:enhancer: (rs1438852) (human) 1595088 En1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISS RGD:1618434 D RGD:13592920 20220811 MouseDO 1595088 En1 engrailed homeobox 1 gene DOID:630 genetic disease ISO RGD:1351603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595088 En1 engrailed homeobox 1 gene DOID:863 nervous system disease ISO RGD:1351603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892157 1595088 En1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:7240710 20210414 OMIM 1595088 En1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Endove syndrome, limb-brain type PMID:33568816 1595088 En1 engrailed homeobox 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 1595088 En1 engrailed homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1595091 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 1595091 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1595091 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1595091 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 1595091 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:630 genetic disease ISO RGD:1342805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595093 L1td1 LINE-1 type transposase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603640 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1595093 L1td1 LINE-1 type transposase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595116 Rpp30 ribonuclease P/MRP subunit p30 gene DOID:630 genetic disease ISO RGD:1321878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595123 Ddo D-aspartate oxidase gene DOID:1876 sexual dysfunction ISO RGD:1314668 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 1595123 Ddo D-aspartate oxidase gene DOID:630 genetic disease ISO RGD:1314668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595123 Ddo D-aspartate oxidase gene DOID:9004657 Weight Gain ISO RGD:1314668 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 1595123 Ddo D-aspartate oxidase gene DOID:9004866 Ataxia ISO RGD:1314668 D RGD:11554173 20211012 CTD CTD Direct Evidence: therapeutic PMID:25979765 1595126 Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X gene DOID:0111252 neurofibromatosis 2 ISO RGD:1604015 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 1595126 Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X gene DOID:630 genetic disease ISO RGD:1604015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595126 Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604015 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 1595151 Snx3 sorting nexin 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1595151 Snx3 sorting nexin 3 gene DOID:0080600 COVID-19 ISO RGD:1345268 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1595151 Snx3 sorting nexin 3 gene DOID:630 genetic disease ISO RGD:1345268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595162 Nr2e1 nuclear receptor subfamily 2, group E, member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1595162 Nr2e1 nuclear receptor subfamily 2, group E, member 1 gene DOID:630 genetic disease ISO RGD:1346337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595191 Urad ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase gene DOID:630 genetic disease ISO RGD:1626260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595195 PCOLCE2 procollagen C-endopeptidase enhancer 2 gene DOID:630 genetic disease ISO RGD:1346123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595195 PCOLCE2 procollagen C-endopeptidase enhancer 2 gene DOID:670 amphetamine abuse ISO RGD:1346123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1352195 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:1352195 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1352195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595210 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1595217 Cryga crystallin, gamma A gene DOID:14557 primary pulmonary hypertension ISO RGD:1351411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1595217 Cryga crystallin, gamma A gene DOID:630 genetic disease ISO RGD:1351411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595217 Cryga crystallin, gamma A gene DOID:83 cataract ISO RGD:1351411 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:28839118 1595217 Cryga crystallin, gamma A gene DOID:83 cataract ISS RGD:10406 D RGD:13592920 20180518 MouseDO OMIM:601371 1595217 Cryga crystallin, gamma A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351411 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1605823 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:1059 intellectual disability ISO RGD:1605823 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:2377 multiple sclerosis ISO RGD:1605823 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:630 genetic disease ISO RGD:1605823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595220 Dusp28 dual specificity phosphatase 28 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1345862 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1345862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1345862 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1345862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595229 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1595361 Or10j2 olfactory receptor family 10 subfamily J member 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1353981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1595361 Or10j2 olfactory receptor family 10 subfamily J member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1353981 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1595361 Or10j2 olfactory receptor family 10 subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1353981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595361 Or10j2 olfactory receptor family 10 subfamily J member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353981 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1595392 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1595392 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:630 genetic disease ISO RGD:1350725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595392 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:7148 rheumatoid arthritis ISO RGD:1350725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1595392 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350725 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 1595392 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350725 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595392 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1595396 Rps27l ribosomal protein S27-like gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344574 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 1595396 Rps27l ribosomal protein S27-like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344574 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 1595396 Rps27l ribosomal protein S27-like gene DOID:2717 Bloom syndrome ISO RGD:1344574 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1595396 Rps27l ribosomal protein S27-like gene DOID:630 genetic disease ISO RGD:1344574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595396 Rps27l ribosomal protein S27-like gene DOID:9256 colorectal cancer ISO RGD:1344574 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1595416 Prr19 proline rich 19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1595416 Prr19 proline rich 19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1595416 Prr19 proline rich 19 gene DOID:2340 craniosynostosis ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1595416 Prr19 proline rich 19 gene DOID:5419 schizophrenia ISO RGD:1604489 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1595416 Prr19 proline rich 19 gene DOID:630 genetic disease ISO RGD:1604489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595416 Prr19 proline rich 19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1595416 Prr19 proline rich 19 gene DOID:9269 maple syrup urine disease ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1595417 Rnf148 ring finger protein 148 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348165 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1595417 Rnf148 ring finger protein 148 gene DOID:630 genetic disease ISO RGD:1348165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595436 Tas2r139 taste receptor, type 2, member 139 gene DOID:630 genetic disease ISO RGD:1350058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595446 Cldn20 claudin 20 gene DOID:630 genetic disease ISO RGD:1343820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595447 Prr22 proline rich 22 gene DOID:630 genetic disease ISO RGD:1602428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1312368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:11832 visual epilepsy IEP D RGD:9587847|PMID:12123686 20141021 RGD mRNA:increased expression:hippocampus 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:224 transient cerebral ischemia IEP D RGD:9587846|PMID:12421618 20141021 RGD mRNA:increased expression:hippocampus 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:4448 macular degeneration ISO RGD:1312369 D RGD:9588663|PMID:24939308 20141104 RGD 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1312368 D RGD:9588659|PMID:24849540 20141104 RGD DNA:snps, haplotype:intron, 3' utr:c.1109+1001T>C (rs1145317), c.*450A>G (rs7614) (human) 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:630 genetic disease ISO RGD:1312368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312368 D RGD:9588623|PMID:20937307 20141103 RGD mRNA:increased expression:mononuclear cell 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:8456 choline deficiency disease IDA D RGD:9588267|PMID:17724018 20141023 RGD DNA:hypermethylation:liver: 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:8456 choline deficiency disease IEP D RGD:9588267|PMID:17724018 20141023 RGD mRNA:increased expression:liver: 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9588620|PMID:23716065 20141103 RGD protein:increased expression:brain: 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312368 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1595452 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9744 type 1 diabetes mellitus ISS RGD:1312369 D RGD:13592920 20220519 MouseDO OMIM:222100 1595460 Tex35 testis expressed 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1348676 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1595460 Tex35 testis expressed 35 gene DOID:630 genetic disease ISO RGD:1348676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595460 Tex35 testis expressed 35 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348676 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1595460 Tex35 testis expressed 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348676 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1595469 Tasor transcription activation suppressor gene DOID:3070 high grade glioma ISO RGD:1604038 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1595469 Tasor transcription activation suppressor gene DOID:630 genetic disease ISO RGD:1604038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595475 Gngt1 G protein subunit gamma transducin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351801 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1595475 Gngt1 G protein subunit gamma transducin 1 gene DOID:10283 prostate cancer ISO RGD:1351801 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1595475 Gngt1 G protein subunit gamma transducin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351801 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1595475 Gngt1 G protein subunit gamma transducin 1 gene DOID:630 genetic disease ISO RGD:1351801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595491 Tbc1d8 TBC1 domain family, member 8 gene DOID:630 genetic disease ISO RGD:1347118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595496 Tirap TIR domain containing adaptor protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 1595496 Tirap TIR domain containing adaptor protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322402 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1595496 Tirap TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 1595496 Tirap TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:7240710 20230505 OMIM 1595496 Tirap TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 1595496 Tirap TIR domain containing adaptor protein gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322402 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 1595496 Tirap TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 1595496 Tirap TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:7240710 20230505 OMIM 1595496 Tirap TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 1595496 Tirap TIR domain containing adaptor protein gene DOID:5419 schizophrenia ISO RGD:1322402 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1595496 Tirap TIR domain containing adaptor protein gene DOID:630 genetic disease ISO RGD:1322402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595496 Tirap TIR domain containing adaptor protein gene DOID:9000989 Pneumococcal Infections ISO RGD:1322402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 1595496 Tirap TIR domain containing adaptor protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 1595496 Tirap TIR domain containing adaptor protein gene DOID:9003909 Immunodeficiency 67 ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 1595496 Tirap TIR domain containing adaptor protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322402 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1595496 Tirap TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 1595496 Tirap TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:7240710 20171011 OMIM 1595496 Tirap TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 1595496 Tirap TIR domain containing adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1322402 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1595501 Sap30 Sin3A associated protein 30 gene DOID:0080600 COVID-19 ISO RGD:1354225 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1595501 Sap30 Sin3A associated protein 30 gene DOID:630 genetic disease ISO RGD:1354225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595501 Sap30 Sin3A associated protein 30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354225 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595506 Tlx2 T-cell leukemia homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1320082 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 1595506 Tlx2 T-cell leukemia homeobox 2 gene DOID:0080072 intestinal pseudo-obstruction ISS RGD:1320083 D RGD:13592920 20180518 MouseDO OMIM:243180 | OMIM:601223 1595506 Tlx2 T-cell leukemia homeobox 2 gene DOID:543 dystonia ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1595506 Tlx2 T-cell leukemia homeobox 2 gene DOID:630 genetic disease ISO RGD:1320082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595506 Tlx2 T-cell leukemia homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343988 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:422 congenital structural myopathy ISO RGD:12345752 D RGD:9068941 20210604 OMIA Centronuclear myopathy, HACD1-related PMID:11166165|PMID:12443679|PMID:12884002|PMID:15829503|PMID:21217042|PMID:21866517|PMID:23071563|PMID:24069350|PMID:2458692|PMID:3421890|PMID:3662204|PMID:3750734|PMID:6495580|PMID:8640649|PMID:977449 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:630 genetic disease ISO RGD:1343988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:7240710 20220810 OMIM 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, nonprogressive PMID:16199547|PMID:23933735|PMID:28492532|PMID:32426512|PMID:33354762 1595507 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 1595511 Rbl1 RB transcriptional corepressor like 1 gene DOID:2234 focal epilepsy ISO RGD:1313374 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1595511 Rbl1 RB transcriptional corepressor like 1 gene DOID:630 genetic disease ISO RGD:1313374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595511 Rbl1 RB transcriptional corepressor like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1313374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 1595512 Rprm reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:630 genetic disease ISO RGD:1350669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595512 Rprm reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17121882 1595512 Rprm reprimo, TP53 dependent G2 arrest mediator homolog gene DOID:9206 Barrett's esophagus ISO RGD:1350669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17121882 1595520 Mab21l2 mab-21 like 2 gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1323458 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:26206937|PMID:26768763|PMID:28492532 1595520 Mab21l2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:7240710 20141022 OMIM 1595520 Mab21l2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 1595520 Mab21l2 mab-21 like 2 gene DOID:12270 coloboma ISO RGD:1323458 D RGD:11553846|PMID:25719200 20161014 RGD DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) 1595520 Mab21l2 mab-21 like 2 gene DOID:630 genetic disease ISO RGD:1323458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 1595520 Mab21l2 mab-21 like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1323458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 1595528 Susd6 sushi domain containing 6 gene DOID:630 genetic disease ISO RGD:1349623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595574 Peg10 paternally expressed 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349907 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1595574 Peg10 paternally expressed 10 gene DOID:630 genetic disease ISO RGD:1349907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595666 Sowahc sosondowah ankyrin repeat domain family member C gene DOID:630 genetic disease ISO RGD:1349983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595678 Lrch1 leucine rich repeats and calponin homology domain containing 1 gene DOID:2377 multiple sclerosis ISS RGD:1558043 D RGD:13592920 20180518 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 1595678 Lrch1 leucine rich repeats and calponin homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1313845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595678 Lrch1 leucine rich repeats and calponin homology domain containing 1 gene DOID:9007096 Stroke ISO RGD:1313845 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 1595680 Misp mitotic spindle positioning gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317766 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 1595680 Misp mitotic spindle positioning gene DOID:5339 cyclic hematopoiesis ISO RGD:1317766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1595680 Misp mitotic spindle positioning gene DOID:630 genetic disease ISO RGD:1317766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595689 Cep170b centrosomal protein 170B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1595689 Cep170b centrosomal protein 170B gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1595689 Cep170b centrosomal protein 170B gene DOID:1682 congenital heart disease ISO RGD:1345091 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:23087211|PMID:25741868|PMID:31680349 1595689 Cep170b centrosomal protein 170B gene DOID:630 genetic disease ISO RGD:1345091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595690 Ccnk cyclin K gene DOID:630 genetic disease ISO RGD:1317544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595690 Ccnk cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:7240710 20190315 OMIM 1595690 Ccnk cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868|PMID:30122539 1595691 Itpk1 inositol-tetrakisphosphate 1-kinase gene DOID:0080054 achondrogenesis type IA ISO RGD:1312967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1595691 Itpk1 inositol-tetrakisphosphate 1-kinase gene DOID:630 genetic disease ISO RGD:1312967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595691 Itpk1 inositol-tetrakisphosphate 1-kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1312967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 1595693 Cep128 centrosomal protein 128 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 1595693 Cep128 centrosomal protein 128 gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 1595693 Cep128 centrosomal protein 128 gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:24728327|PMID:25741868 1595693 Cep128 centrosomal protein 128 gene DOID:1826 epilepsy ISO RGD:1344060 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 1595693 Cep128 centrosomal protein 128 gene DOID:630 genetic disease ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16060907|PMID:17705697|PMID:18727713|PMID:21186955|PMID:28492532|PMID:30372544 1595693 Cep128 centrosomal protein 128 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1344060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:8964822|PMID:9385128 1595693 Cep128 centrosomal protein 128 gene DOID:9008086 Developmental Disabilities ISO RGD:1344060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314099 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1314099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:1059 intellectual disability ISO RGD:1314099 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:10907 microcephaly ISO RGD:1314099 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:1826 epilepsy ISO RGD:1314099 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:630 genetic disease ISO RGD:1314099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595701 Calhm4 calcium homeostasis modulator family member 4 gene DOID:9000495 Tremor ISO RGD:1314099 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 1595704 Col13a1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:7240710 20160120 OMIM 1595704 Col13a1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 19 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26626625|PMID:28492532|PMID:30767057|PMID:31081514|PMID:9536098 1595704 Col13a1 collagen type XIII alpha 1 chain gene DOID:3635 congenital myasthenic syndrome ISO RGD:1607090 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1595704 Col13a1 collagen type XIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1607090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1595704 Col13a1 collagen type XIII alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1607090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1595708 Prkrip1 PRKR interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316893 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1595708 Prkrip1 PRKR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595713 N4bp2l1 NEDD4 binding protein 2-like 1 gene DOID:630 genetic disease ISO RGD:1604555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595717 LOC498122 similar to CG15908-PA gene DOID:0060041 autism spectrum disorder ISO RGD:1606462 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1595717 LOC498122 similar to CG15908-PA gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 1595717 LOC498122 similar to CG15908-PA gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 1595717 LOC498122 similar to CG15908-PA gene DOID:0111996 immunodeficiency 51 ISO RGD:1606462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1595717 LOC498122 similar to CG15908-PA gene DOID:1059 intellectual disability ISO RGD:1606462 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595717 LOC498122 similar to CG15908-PA gene DOID:11198 DiGeorge syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 1595717 LOC498122 similar to CG15908-PA gene DOID:11372 megacolon ISO RGD:1606462 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1595717 LOC498122 similar to CG15908-PA gene DOID:12583 velocardiofacial syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 1595717 LOC498122 similar to CG15908-PA gene DOID:12849 autistic disorder ISO RGD:1606462 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595717 LOC498122 similar to CG15908-PA gene DOID:1826 epilepsy ISO RGD:1606462 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1595717 LOC498122 similar to CG15908-PA gene DOID:5419 schizophrenia ISO RGD:1606462 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1595717 LOC498122 similar to CG15908-PA gene DOID:612 primary immunodeficiency disease ISO RGD:1606462 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 1595717 LOC498122 similar to CG15908-PA gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606462 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595717 LOC498122 similar to CG15908-PA gene DOID:9007661 Dwarfism ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 1595717 LOC498122 similar to CG15908-PA gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:0060041 autism spectrum disorder ISO RGD:1348350 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:10923 sickle cell anemia ISO RGD:1348350 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:12849 autistic disorder ISO RGD:1348350 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348350 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:5419 schizophrenia ISO RGD:1348350 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:630 genetic disease ISO RGD:1348350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:8445 intestinal volvulus ISO RGD:1348350 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:7240710 20210707 OMIM 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive PMID:25741868|PMID:33465056|PMID:35148383 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348350 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595783 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348350 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1595784 Hoxc9 homeobox C9 gene DOID:630 genetic disease ISO RGD:1314056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595784 Hoxc9 homeobox C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314056 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595785 Rorc RAR-related orphan receptor C gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1317896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 1595785 Rorc RAR-related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:7240710 20170503 OMIM 1595785 Rorc RAR-related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:16199547|PMID:25741868|PMID:26160376|PMID:28492532 1595785 Rorc RAR-related orphan receptor C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1595785 Rorc RAR-related orphan receptor C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1595785 Rorc RAR-related orphan receptor C gene DOID:12894 Sjogren's syndrome ISS RGD:1317897 D RGD:13592920 20180518 MouseDO OMIM:270150 1595785 Rorc RAR-related orphan receptor C gene DOID:1540 parathyroid carcinoma ISO RGD:1317896 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1595785 Rorc RAR-related orphan receptor C gene DOID:5812 MHC class II deficiency ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1595785 Rorc RAR-related orphan receptor C gene DOID:630 genetic disease ISO RGD:1317896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1595785 Rorc RAR-related orphan receptor C gene DOID:874 bacterial pneumonia severity ISO RGD:1317897 D RGD:38501102|PMID:25398094 20200818 RGD 1595785 Rorc RAR-related orphan receptor C gene DOID:9002311 Experimental Autoimmune Myocarditis severity IEP D RGD:38549573|PMID:28892130 20200902 RGD 1595785 Rorc RAR-related orphan receptor C gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1317897 D RGD:38501105|PMID:21923716 20200818 RGD mRNA:increased expression:placenta: 1595785 Rorc RAR-related orphan receptor C gene DOID:9005372 Inflammation ISO RGD:1317896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 1595785 Rorc RAR-related orphan receptor C gene DOID:9007204 Dysbiosis treatment IEP D RGD:38549571|PMID:32227764 20200902 RGD 1595785 Rorc RAR-related orphan receptor C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317896 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1595790 Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:12858 Huntington's disease ISS RGD:1557918 D RGD:13592920 20180518 MouseDO OMIM:143100 1595790 Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:630 genetic disease ISO RGD:1351838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595814 RT1-DOb RT1 class II, locus DOb gene DOID:0050553 JMP syndrome ISO RGD:1346079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1595816 RT1-M5 RT1 class Ib, locus M5 gene DOID:1123 spondyloarthropathy no_association ISO RGD:1352836 D RGD:10755579|PMID:21927904 20160202 RGD DNA:polymorphisms:cds:HLA-B2705 (human) 1595816 RT1-M5 RT1 class Ib, locus M5 gene DOID:13241 Behcet's disease ISO RGD:1352836 D RGD:7364939|PMID:11426025 20160913 RGD DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) 1595816 RT1-M5 RT1 class Ib, locus M5 gene DOID:2703 synovitis susceptibility ISO RGD:1352836 D RGD:10755578|PMID:12889998 20160202 RGD associated with Hemophilia;DNA:polymorphisms:cds:HLA-B*2708(human) 1595816 RT1-M5 RT1 class Ib, locus M5 gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1352836 D RGD:10755579|PMID:21927904 20160202 RGD DNA:polymorphisms:cds:HLA-B2705 (human) 1595816 RT1-M5 RT1 class Ib, locus M5 gene DOID:848 arthritis ISO RGD:1352836 D RGD:7364930|PMID:10648455 20160913 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple (human) 1595816 RT1-M5 RT1 class Ib, locus M5 gene DOID:9000380 Spondylarthritis susceptibility ISO RGD:1352836 D RGD:10755578|PMID:12889998 20160202 RGD DNA:polymorphisms:cds:HLA-B*2714, B*2705 (human) 1595818 Zfp296 zinc finger protein 296 gene DOID:630 genetic disease ISO RGD:1343580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595836 Acyp2 acylphosphatase 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1350765 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 1595836 Acyp2 acylphosphatase 2 gene DOID:630 genetic disease ISO RGD:1350765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595836 Acyp2 acylphosphatase 2 gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25665007 1595842 Ccdc65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:7240710 20140911 OMIM 1595842 Ccdc65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 27 PMID:16199547|PMID:17576681|PMID:23991085|PMID:24033266|PMID:24094744|PMID:25741868|PMID:28492532|PMID:9536098 1595842 Ccdc65 coiled-coil domain containing 65 gene DOID:630 genetic disease ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1595842 Ccdc65 coiled-coil domain containing 65 gene DOID:9007073 Cough ISO RGD:1604557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cough PMID:23991085|PMID:25741868|PMID:28492532 1595842 Ccdc65 coiled-coil domain containing 65 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1601958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18820647|PMID:24531328|PMID:27180240 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1601958 D RGD:14981593|PMID:24477042 20191008 RGD associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1601958 D RGD:14981596|PMID:24831885 20191008 RGD DNA:SNPs: :rs738407, rs738409, and rs2896019 (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease PMID:18820647|PMID:21381068|PMID:24033266|PMID:24917523|PMID:25290313|PMID:26200108|PMID:27288299|PMID:28073161|PMID:28492532|PMID:29158695 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1601958 D RGD:13463463|PMID:26740948 20171215 RGD DNA:SNPs: : 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601958 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1601958 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1601958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19946271|PMID:26482880 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:1459 hypothyroidism treatment IEP D RGD:14985223|PMID:19619606 20191011 RGD 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:3393 coronary artery disease ISO RGD:1601958 D RGD:14981594|PMID:31377187 20191008 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis ISO RGD:1601958 D RGD:14981584|PMID:20648474 20191008 RGD associated with non-alcoholic fatty liver disease:DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1601958 D RGD:14981591|PMID:29674183 20191008 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1601958 D RGD:14981594|PMID:31377187 20191008 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1601958 D RGD:14981585|PMID:21319195 20191008 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1601958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19946271 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601958 D RGD:14981594|PMID:31377187 20191008 RGD DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:11055420|PMID:25678388 20191008 RGD associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25678388 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:14981585|PMID:21319195 20191008 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9452 fatty liver disease ISO RGD:1601958 D RGD:14981590|PMID:25284145 20191008 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9452 fatty liver disease severity ISO RGD:1601958 D RGD:14981583|PMID:23564580 20191008 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) 1595843 Pnpla3 patatin-like phospholipase domain containing 3 gene DOID:9970 obesity IEP D RGD:14985224|PMID:11431482 20191011 RGD 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343642 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:0080600 COVID-19 ISO RGD:1343642 D RGD:9068941 20220825 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:0080600 COVID-19 severity ISO RGD:1343642 D RGD:30296684|PMID:32348495 20200623 RGD DNA:SNP: (rs12252)(human) 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1343642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343642 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1343642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:9001488 Human Influenza ISO RGD:1343642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:9001488 Human Influenza ISO RGD:1343642 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Influenza, severe, susceptibility to PMID:20943977|PMID:22446628 1595844 Ifitm3 interferon induced transmembrane protein 3 gene DOID:9001488 Human Influenza susceptibility ISO RGD:1343642 D RGD:7240710 20190502 OMIM 1595845 Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 gene DOID:224 transient cerebral ischemia IEP D RGD:1357161|PMID:10700014 20150818 RGD 1595845 Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 gene DOID:3069 malignant astrocytoma ISO RGD:1345557 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 1595845 Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 gene DOID:630 genetic disease ISO RGD:1345557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595845 Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 gene DOID:9000918 Disease Progression ISO RGD:1345557 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 1595845 Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1595846 Katnip katanin interacting protein gene DOID:0050777 Joubert syndrome ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:26714646 1595846 Katnip katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:7240710 20190315 OMIM 1595846 Katnip katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 26 PMID:25741868|PMID:26714646|PMID:27245168|PMID:28492532 1595846 Katnip katanin interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 1595846 Katnip katanin interacting protein gene DOID:630 genetic disease ISO RGD:1604044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1595847 Trim66 tripartite motif-containing 66 gene DOID:630 genetic disease ISO RGD:1344439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:0080773 delta beta-thalassemia ISO RGD:1353990 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Delta-plus-thalassemia | ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:11939506|PMID:12402333|PMID:1398286|PMID:15921167|PMID:16434382|PMID:1742490|PMID:2798417|PMID:3401592 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:10241 thalassemia ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobin Lepore trait PMID:1347969|PMID:13892631|PMID:14133899|PMID:14478740|PMID:16114186|PMID:1693293|PMID:2442092|PMID:25741868|PMID:4625560|PMID:5356627|PMID:5660684|PMID:5964983|PMID:701081 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:1099 alpha thalassemia ISO RGD:1353990 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:1347969|PMID:13892631|PMID:14133899|PMID:1693293|PMID:2442092|PMID:25741868|PMID:4625560|PMID:5660684|PMID:5964983 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:2355 anemia ISO RGD:1353990 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Anemia PMID:1347969|PMID:13892631|PMID:14133899|PMID:1693293|PMID:2442092|PMID:25741868|PMID:4625560|PMID:5660684|PMID:5964983 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:2860 hemoglobinopathy ISO RGD:1353990 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Hemoglobinopathy PMID:15315794|PMID:23491071|PMID:7510147 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:630 genetic disease ISO RGD:1353990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:9000058 Keloid ISO RGD:1353990 D RGD:11554173 20171219 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:9001341 Chloracne ISO RGD:1353990 D RGD:11554173 20171219 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 1595848 Hbb-b1 hemoglobin, beta adult major chain gene DOID:9008244 Delta-Thalassemia ISO RGD:1353990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delta-0-thalassemia | ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type | ClinVar Annotator: match by term: delta Thalassemia PMID:11939506|PMID:12402333|PMID:1301204|PMID:1309671|PMID:1398286|PMID:1515647|PMID:16434382|PMID:1742490|PMID:18221842|PMID:2018846|PMID:20678137|PMID:23215833|PMID:23806011|PMID:24601842|PMID:24985928|PMID:27387985|PMID:3401592|PMID:3676110|PMID:8118467|PMID:8330984|PMID:8364213 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345462 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1345462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:1059 intellectual disability ISO RGD:1345462 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:12849 autistic disorder ISO RGD:1345462 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1345462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345462 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595851 Itih6-ps1 inter-alpha-trypsin inhibitor heavy chain family member 6, pseudogene 1 gene DOID:9007661 Dwarfism ISO RGD:1345462 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Short stature 1595854 Plin3 perilipin 3 gene DOID:630 genetic disease ISO RGD:1343845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595854 Plin3 perilipin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1595855 Uhrf1 ubiquitin-like with PHD and ring finger domains 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352913 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 1595855 Uhrf1 ubiquitin-like with PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1352913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595855 Uhrf1 ubiquitin-like with PHD and ring finger domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352913 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1595855 Uhrf1 ubiquitin-like with PHD and ring finger domains 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1332040 D RGD:9587430|PMID:20442318 20141013 RGD 1595858 Foxo6 forkhead box O6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2292467 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1595859 Eri3 ERI1 exoribonuclease family member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1595859 Eri3 ERI1 exoribonuclease family member 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318310 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1595859 Eri3 ERI1 exoribonuclease family member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1595859 Eri3 ERI1 exoribonuclease family member 3 gene DOID:630 genetic disease ISO RGD:1318310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20081860 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:126779596|PMID:28438623 20210412 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050860 colorectal adenoma disease_progression ISO RGD:1312683 D RGD:126779593|PMID:30214616 20210412 RGD protein:increased expression:large intestine 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1312683 D RGD:126779594|PMID:21926398 20210412 RGD DNA:SNP: rs3757441 (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:126779588|PMID:24122997 20210412 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:126781699|PMID:21697275 20210415 RGD associated with oral mucosa leukoplakia 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1312683 D RGD:126779606|PMID:26807327 20210413 RGD DNA:SNPs, haplotypes: :multiple 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050873 follicular lymphoma ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601954 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:10450880|PMID:22869879 20160122 RGD DNA:mutations:multiple (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:10450887|PMID:21125401 20160122 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060058 lymphoma ISO RGD:1312683 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:23023262|PMID:24563539|PMID:26619011 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1312683 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23023262|PMID:24563539|PMID:26619011 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0070004 myeloid neoplasm ISO RGD:1312684 D RGD:10450869|PMID:22233633 20160122 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080188 chronic myelomonocytic leukemia severity ISO RGD:1312683 D RGD:10450882|PMID:21339759 20160122 RGD DNA:mutations:multiple (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080199 colorectal carcinoma ISO RGD:1312683 D RGD:126779593|PMID:30214616 20210412 RGD protein:increased expression:large intestine 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:9588320|PMID:24351808 20141028 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080600 COVID-19 ISO RGD:1312683 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1312683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10283 prostate cancer severity ISO RGD:1312683 D RGD:10755355|PMID:17134822 20160126 RGD protein:increased expression:prostate gland (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1312683 D RGD:126781698|PMID:16734726 20210415 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer susceptibility ISO RGD:1312683 D RGD:126779605|PMID:22228224 20210413 RGD DNA:SNPs: :multiple 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer treatment ISO RGD:1312683 D RGD:14928319|PMID:25595591 20190916 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312683 D RGD:126781700|PMID:21539681 20210415 RGD mRNA:increased expression:urinary bladder 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:127 leiomyoma IEP D RGD:9588321|PMID:22504913 20141028 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:1312683 D RGD:126781717|PMID:19901851 20210416 RGD DNA:SNPs, haplotype: :rs6950683, rs3757441 (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:7240710 20130508 OMIM 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:22177091|PMID:22190405|PMID:23680131|PMID:24214728|PMID:24728327|PMID:25741868|PMID:26380986|PMID:26694085|PMID:28492532|PMID:29802153|PMID:30613354|PMID:31785789|PMID:32243864|PMID:4366187|PMID:9536098 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1793 pancreatic cancer IEP D RGD:9588324|PMID:22222375 20141028 RGD protein:increased expression:pancreas 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:219 colon cancer disease_progression ISO RGD:1312683 D RGD:126781702|PMID:19773751 20210415 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:2340 craniosynostosis ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:289 endometriosis treatment IMP D RGD:126781723|PMID:32651901 20210416 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3008 invasive ductal carcinoma ISO RGD:1312683 D RGD:9588325|PMID:14532106 20141028 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma treatment ISO RGD:1312683 D RGD:14928319|PMID:25595591 20190916 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:11532507|PMID:26265454 20210416 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1312683 D RGD:126781697|PMID:25613619 20210415 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1312683 D RGD:126781701|PMID:21165554 20210415 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1312683 D RGD:126781700|PMID:21539681 20210415 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1312683 D RGD:126781715|PMID:23300840 20210416 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1312683 D RGD:126781716|PMID:24097870 20210416 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312683 D RGD:126779604|PMID:24179546 20210413 RGD DNA:SNP: :g.148505302C>T (rs887569) (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma no_association ISO RGD:1312683 D RGD:126779604|PMID:24179546 20210413 RGD DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis severity ISO RGD:1312683 D RGD:10450870|PMID:21921040 20160122 RGD DNA:mutations:exons, introns:multiple (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312684 D RGD:11038772|PMID:24218139 20160614 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1312683 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312684 D RGD:10755340|PMID:22431509 20160125 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:6000 congestive heart failure disease_progression ISO RGD:1312683 D RGD:155630627|PMID:33779075 20221026 RGD DNA:mutations: : 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:10755339|PMID:24211739 20160125 RGD mRNA:increased expression:liver (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:11537550|PMID:26517514 20210412 RGD mRNA:increased expression:liver 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:34545456 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:126779608|PMID:25226601 20210413 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312683 D RGD:126779595|PMID:24040354 20210412 RGD DNA:SNPs: :multiple 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma ISS RGD:1312684 D RGD:13592920 20200402 MouseDO 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma severity ISO RGD:1312684 D RGD:10755356|PMID:23982173 20160126 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma treatment ISO RGD:1312683 D RGD:126781726|PMID:29456795 20210416 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1312683 D RGD:126781718|PMID:22028491 20210416 RGD mRNA, protein:increased expression:pleura 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1312683 D RGD:13782088|PMID:27070757 20180821 RGD mRNA:increased expression:bone marrow mononuclear cells (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312683 D RGD:10450890|PMID:24056718 20160122 RGD associated with Down Syndrome;DNA:mutations:multiple (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8923 skin melanoma ISO RGD:1312683 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23023262|PMID:24563539|PMID:26619011 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:1312684 D RGD:126779602|PMID:31160593 20210413 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:11532507|PMID:26265454 20210416 RGD associated with osteosarcoma 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:126779607|PMID:20132185 20210413 RGD associated with stomach cancer;protein:increased expression:stomach 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:126781716|PMID:24097870 20210416 RGD associated with lung non-small cell carcinoma 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003774|PMID:17173048|PMID:21903722 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312683 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004203 Chromosome Breakage ISO RGD:1312683 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004283 Transplant Rejection treatment IMP D RGD:126781722|PMID:27784285 20210416 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004402 Congenital Upper Extremity Deformities ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312683 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9588322|PMID:23727574 20141028 RGD mRNA, protein:decreased expression:heart 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004657 Weight Gain ISO RGD:1312683 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30971429 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9587808|PMID:23508046 20141028 RGD protein:increased expression:kidney 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006014 Peritoneal Adhesions IEP D RGD:126781724|PMID:27690696 20210416 RGD protein:increased expression:peritoneum 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1312684 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312683 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1312683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1312683 D RGD:10450887|PMID:21125401 20160122 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1312684 D RGD:10450874|PMID:22677129 20160122 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1312683 D RGD:10450876|PMID:23099237 20160122 RGD DNA:mutations:cds:multiple (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer ISO RGD:1312683 D RGD:126781700|PMID:21539681 20210415 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:126779590|PMID:26871294 20210412 RGD 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:126779594|PMID:21926398 20210413 RGD DNA:SNP: :rs3757441 (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer no_association ISO RGD:1312683 D RGD:126779594|PMID:21926398 20210413 RGD DNA:SNPs: :rs2302427, rs41277434, rs6958683 (human) 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1312683 D RGD:126779603|PMID:21300475 20210413 RGD mRNA, protein:increased expression:ventral nasal meatus 1595860 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9952 acute lymphoblastic leukemia ISS RGD:1312684 D RGD:13592920 20180518 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 1595861 Ifi44l interferon-induced protein 44-like gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1352700 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 1595861 Ifi44l interferon-induced protein 44-like gene DOID:1470 major depressive disorder ISO RGD:1352700 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 1595861 Ifi44l interferon-induced protein 44-like gene DOID:630 genetic disease ISO RGD:1352700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595861 Ifi44l interferon-induced protein 44-like gene DOID:9001488 Human Influenza ISO RGD:1352700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0050581 brachydactyly ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080006 bone development disease ISO RGD:1354405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805157 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1354405 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29322508 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1354405 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:29322508 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805157 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:7240710 20130731 OMIM 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 3 PMID:15805157|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:7240710 20130731 OMIM 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:14523231|PMID:16957682|PMID:17576681|PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532|PMID:31769494|PMID:9536098 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:7240710 20190315 OMIM 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1D PMID:25758993 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1354405 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2256 osteochondrodysplasia ISO RGD:1354405 D RGD:1600593|PMID:15805157 20070316 RGD acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2841 asthma ISO RGD:1354405 D RGD:5129470|PMID:18292470 20110330 RGD protein:decreased expression:bronchus 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:5426 primary ovarian insufficiency ISO RGD:1354405 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:630 genetic disease ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:6432 pulmonary hypertension ISO RGD:1354405 D RGD:5129472|PMID:19324947 20110330 RGD 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354405 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9006294 Congenital Limb Deformities ISO RGD:1354405 D RGD:1334470|PMID:14523231 20070316 RGD type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:25741868|PMID:28492532 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008296 Eye Abnormalities ISO RGD:1354405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 1595863 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 1595865 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:11537400|PMID:21567919 20161004 RGD DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human) 1595865 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:11537401|PMID:18174396 20161004 RGD DNA:mutations: :multiple 1595865 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:11537402|PMID:19643772 20161004 RGD DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple 1595865 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:11537403|PMID:18157127 20161004 RGD DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) 1595865 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:7240710 20130221 OMIM 1595865 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:12210304|PMID:15372530|PMID:16199547|PMID:17576681|PMID:18157127|PMID:18174396|PMID:18414213|PMID:19448849|PMID:19643772|PMID:19839044|PMID:19937158|PMID:21195721|PMID:21567919|PMID:22821869|PMID:23033978|PMID:24033266|PMID:24928221|PMID:25326635|PMID:25363768|PMID:25741868|PMID:27124789|PMID:27323140|PMID:27900370|PMID:28492532|PMID:30214071|PMID:30922925|PMID:32267100|PMID:32818659|PMID:9536098 1595865 Pcnt pericentrin gene DOID:0070007 Seckel syndrome 1 ISO RGD:1317411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18157127 1595865 Pcnt pericentrin gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18174396 1595865 Pcnt pericentrin gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1595865 Pcnt pericentrin gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1317411 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 1595865 Pcnt pericentrin gene DOID:0110266 cataract 9 multiple types ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1595865 Pcnt pericentrin gene DOID:1059 intellectual disability ISO RGD:1317411 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28492532 1595865 Pcnt pericentrin gene DOID:10907 microcephaly ISO RGD:1317411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 1595865 Pcnt pericentrin gene DOID:11372 megacolon ISO RGD:1317411 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1595865 Pcnt pericentrin gene DOID:12849 autistic disorder ISO RGD:1317411 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595865 Pcnt pericentrin gene DOID:14250 Down syndrome ISO RGD:1317411 D RGD:11537399|PMID:23979692 20161004 RGD 1595865 Pcnt pericentrin gene DOID:14250 Down syndrome ISO RGD:1317411 D RGD:11537404|PMID:22552340 20161004 RGD 1595865 Pcnt pericentrin gene DOID:630 genetic disease ISO RGD:1317411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 1595865 Pcnt pericentrin gene DOID:8725 vascular dementia ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 1595865 Pcnt pericentrin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1595865 Pcnt pericentrin gene DOID:9002954 Microcephalic Osteodysplastic Primordial Dwarfism ISO RGD:1317411 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism PMID:18414213|PMID:28492532 1595865 Pcnt pericentrin gene DOID:9008086 Developmental Disabilities ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 1595865 Pcnt pericentrin gene DOID:9263 homocystinuria ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1595865 Pcnt pericentrin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:0050553 JMP syndrome ISO RGD:1347386 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:0080820 occupational asthma susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP: : rs928976(human) PMID:24709764|REF_RGD_ID:13506912 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphsims: :multiple (human) PMID:12774051|REF_RGD_ID:150429809 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:10322 berylliosis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:8105536|PMID:11551429|PMID:14662898|PMID:15273960|PMID:17927685|PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:10608 celiac disease ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) PMID:17349874|REF_RGD_ID:150429811 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:11335 sarcoidosis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:8909942|PMID:14508706|PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:1555 urticaria ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:1558 angioedema ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms:3-UTR:rs9277534(human) PMID:22496224|REF_RGD_ID:14694821 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2043 hepatitis B severity ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNPs, haplotype:3' utr:multiple (human) PMID:26197724|REF_RGD_ID:11553629 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP: :rs9277535(human) PMID:27051043|REF_RGD_ID:14694816 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2043 hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP: :rs7770370(human) PMID:27083422|REF_RGD_ID:14694820 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human) PMID:30093645|REF_RGD_ID:150429797 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human) PMID:32560041|REF_RGD_ID:150429806 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2772 irritant dermatitis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2841 asthma ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16792590|PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2841 asthma susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms: : PMID:21814517|REF_RGD_ID:13506911 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:289 endometriosis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1347386 D RGD:9068941 20230330 RGD PMID:18652916|REF_RGD_ID:5144001 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347386 D RGD:9068941 20230330 RGD PMID:21423603|REF_RGD_ID:5143980 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:322 myelitis susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphism: :HLA-DPB1*0201 (human) PMID:22884298|REF_RGD_ID:150429795 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:409 liver disease exacerbates ISO RGD:1347386 D RGD:9068941 20230330 RGD associated with Chronic Hepatitis C;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:28332201|REF_RGD_ID:150429805 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:4362 cervical cancer susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphism: :HLA-DPB1*1301 (human) PMID:17349874|REF_RGD_ID:150429811 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:437 myasthenia gravis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1347386 D RGD:9068941 20230330 RGD PMID:21569485|REF_RGD_ID:5147561 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:17956852|PMID:22286218 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:850 lung disease ISO RGD:1347386 D RGD:9068941 20230330 RGD PMID:21186201|REF_RGD_ID:5143998 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:8986 narcolepsy susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms, haplotypes: :multiple (human) PMID:25574827|REF_RGD_ID:150429810 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9000509 Epstein-Barr Virus Infections susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) PMID:11401923|REF_RGD_ID:150429800 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:23817570 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347386 D RGD:9068941 20230330 RGD mRNA:increased expression:peripheral blood mononuclear cell(human) PMID:28332201|REF_RGD_ID:150429805 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphism: :HLA-DPB1*04:01 (human) PMID:27601657|REF_RGD_ID:150429796 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9005236 Drug Eruptions ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9006788 Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms:cds:HLA-DPB1*0202 (human) PMID:19165231|REF_RGD_ID:5143999 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008023 Memory Disorders ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:14975599 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347386 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNPs:multiple (human) PMID:21274863|REF_RGD_ID:150429660 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP: :rs33054861(human) PMID:27051043|REF_RGD_ID:14694816 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP:exon 6: (rs9277542) (human) PMID:22737229|REF_RGD_ID:150429807 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:SNP:exon, 3' utr: (rs9277542) (human) PMID:28267888|REF_RGD_ID:14974232 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphism:exon, 3' utr: (rs9277535) (human) PMID:21310144|REF_RGD_ID:150429802 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms, haplotypes:multiple (human) PMID:19349983|PMID:24520320|REF_RGD_ID:150429799|REF_RGD_ID:150429808 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphisms:multiple (human) PMID:26449183|REF_RGD_ID:11536957 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphism: :(human) PMID:25109699|REF_RGD_ID:150429794 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9415 allergic asthma susceptibility ISO RGD:1347386 D RGD:9068941 20230330 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 1595866 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347386 D RGD:9068941 20230330 RGD PMID:7576003|REF_RGD_ID:6480651 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0050168 autoimmune polyendocrine syndrome type 2 susceptibility ISO RGD:1351810 D RGD:5147565|PMID:21388354 20110811 RGD DNA:polymorphisms:cds:HLA-DQA1*01, HLA-DQA1*03 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0050553 JMP syndrome ISO RGD:1351810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0050748 marginal zone lymphoma ISO RGD:1351810 D RGD:5147794|PMID:16234023 20110819 RGD associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0050827 rheumatic heart disease ISO RGD:1351810 D RGD:5147792|PMID:17559688 20110819 RGD DNA:polymorphisms, haplotypes:multiple 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0050827 rheumatic heart disease susceptibility ISO RGD:1351810 D RGD:126925989|PMID:29029143 20210525 RGD DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue treatment ISO RGD:1351810 D RGD:5147794|PMID:16234023 20210621 RGD associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1353906|RGD:1351810 D RGD:11041765|PMID:12070003 20160328 RGD DNA:polymorphism, haplotype 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0080162 lupus nephritis ISO RGD:1351810 D RGD:9068941 20220825 RGD DNA:polymorphisms:cds:HLA-DQA1*0102 (human) PMID:12651073|REF_RGD_ID:40902999 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1351810 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DQA1*0101 (human) PMID:12651073|REF_RGD_ID:40902999 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0080767 autoimmune myocarditis exacerbates ISO RGD:1619269 D RGD:127285795|PMID:10364312 20210630 RGD associated with Coxsackievirus Infections 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:1351810 D RGD:11074090|PMID:25975240 20180222 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1351810 D RGD:5147650|PMID:15996167 20110816 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1351810 D RGD:5147795|PMID:15498363 20110819 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1351810 D RGD:5147858|PMID:10432437 20110825 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10534 stomach cancer susceptibility ISO RGD:1351810 D RGD:126928143|PMID:15622476 20210601 RGD associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0503 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10603 glucose intolerance susceptibility ISO RGD:1351810 D RGD:2301815|PMID:15602651 20081103 RGD associated with Diabetes Mellitus 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease ISO RGD:1351810 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease ISO RGD:1351810 D RGD:5147789|PMID:19494267 20110819 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease ISO RGD:1351810 D RGD:5147791|PMID:18509540 20110819 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease ISO RGD:1351810 D RGD:5147808|PMID:11713456 20110822 RGD associated with Thyroiditis, Autoimmune;DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease ISO RGD:1351810 D RGD:5147854|PMID:11426458 20110825 RGD associated with Down Syndrome;DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease susceptibility ISO RGD:1351810 D RGD:2301813|PMID:16567828 20081103 RGD associated with Diabetes Mellitus, Insulin-Dependent 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease susceptibility ISO RGD:1351810 D RGD:5147625|PMID:17919990 20110816 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10608 celiac disease susceptibility ISO RGD:1351810 D RGD:7240710 20190502 OMIM 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10763 hypertension ISO RGD:1351810 D RGD:5147807|PMID:11798899 20110822 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10887 lepromatous leprosy susceptibility ISO RGD:1351810 D RGD:5147788|PMID:19698125 20210621 RGD DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10976 membranous glomerulonephritis ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:10976 membranous glomerulonephritis ISO RGD:1351810 D RGD:5147785|PMID:21323541 20110819 RGD DNA:SNP: :rs2187668 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:1351810 D RGD:5147830|PMID:11836690 20110822 RGD DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:11336 rhinoscleroma susceptibility ISO RGD:1351810 D RGD:8547664|PMID:17321882 20140219 RGD DNA:haplotype: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:11678 onchocerciasis susceptibility ISO RGD:1351810 D RGD:8547660|PMID:22117902 20140219 RGD DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1205 allergic disease ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8725357 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1205 allergic disease ISO RGD:1351810 D RGD:5147826|PMID:16112029 20110822 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1205 allergic disease ISO RGD:1351810 D RGD:5147866|PMID:10202362 20110825 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1205 allergic disease susceptibility ISO RGD:1351810 D RGD:5147651|PMID:15853900 20110816 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12134 factor VIII deficiency ISO RGD:1351810 D RGD:11041784|PMID:9157572 20160329 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351810 D RGD:14401562|PMID:15713222 20190509 RGD DNA:polymorphism: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1351810 D RGD:8547565|PMID:11835809 20140218 RGD DNA:polymorphism: : HLA-DQA1*0301 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12306 vitiligo susceptibility ISO RGD:1351810 D RGD:8547566|PMID:16409268 20140218 RGD DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12361 Graves' disease susceptibility ISO RGD:1351810 D RGD:8547558|PMID:8706297 20140218 RGD DNA:polymorphisms::HLA-DQA1*0501; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12449 aplastic anemia ISO RGD:1353906|RGD:1351810 D RGD:11041765|PMID:12070003 20160328 RGD DNA:polymorphism, haplotype 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12449 aplastic anemia treatment ISO RGD:1353906|RGD:1351810 D RGD:11041775|PMID:7994040 20160329 RGD DNA:polymorphism, haplotype 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12859 choreatic disease ISO RGD:1351810 D RGD:5147792|PMID:17559688 20110819 RGD associated with Rheumatic Fever;DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1351810 D RGD:5147809|PMID:11555411 20110822 RGD DNA:polymorphism:cds:HLA-DQA1*0101 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1351810 D RGD:7421543|PMID:21315052 20140218 RGD DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:13141 uveitis IMP D RGD:5147639|PMID:16723470 20110816 RGD associated with Encephalomyelitis, Autoimmune, Experimental 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:13336 congenital toxoplasmosis susceptibility ISO RGD:1351810 D RGD:126928144|PMID:26856406 20210601 RGD DNA:polymorphisms: :HLA-DQA1*01:03, HLA-DQA1*03:02 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1351810 D RGD:5147646|PMID:16254435 20110816 RGD DNA:polymorphisms:cds:HLA-DQA1*03, HLA-DQA1*0401 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1351810 D RGD:5147800|PMID:12734793 20110819 RGD DNA:polymorphisms:cds:HLA-DQA1*0301 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1520 colon carcinoma susceptibility ISO RGD:1351810 D RGD:126925990|PMID:11972882 20210525 RGD DNA:polymorphism: :HLA-DQA1*0201 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1351810 D RGD:8547725|PMID:11014350 20140220 RGD DNA:polymorphism::HLA-DQA1*0501; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1586 rheumatic fever ISO RGD:1351810 D RGD:5147792|PMID:17559688 20110819 RGD DNA:polymorphisms, haplotypes:multiple 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1586 rheumatic fever susceptibility ISO RGD:1351810 D RGD:127285392|PMID:15789899 20210618 RGD DNA:polymorphism: :HLA-DQA1*03 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1612 breast cancer ISO RGD:1351810 D RGD:5147786|PMID:21245432 20110819 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1883 hepatitis C ISO RGD:1351810 D RGD:14398753|PMID:29248968 20190429 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1883 hepatitis C disease_progression ISO RGD:1351810 D RGD:14401560|PMID:25970464 20190509 RGD associated with thalassemia;DNA:polymorphism, haplotype: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:1909 melanoma susceptibility ISO RGD:1351810 D RGD:8547661|PMID:16433795 20140219 RGD DNA:polymorphisms: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2043 hepatitis B disease_progression ISO RGD:1351810 D RGD:14398754|PMID:20718347 20190429 RGD DNA:polymorphisms: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2043 hepatitis B no_association ISO RGD:1351810 D RGD:14398837|PMID:24510573 20190506 RGD DNA:polymorphism: :rs9272346(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2043 hepatitis B susceptibility ISO RGD:1351810 D RGD:126925986|PMID:17845309 20210525 RGD DNA:polymorphism: :HLA-DQA1*0102 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2043 hepatitis B susceptibility ISO RGD:1351810 D RGD:14398755|PMID:30168489 20190429 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1351810 D RGD:5147555|PMID:21741664 20110811 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2452 thrombophilia treatment ISO RGD:1351810 D RGD:11041740|PMID:23454623 20160328 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2723 dermatitis ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16836882 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2841 asthma ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10792356 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2841 asthma ISO RGD:1351810 D RGD:1331670|PMID:10051703 20110825 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2841 asthma ISO RGD:1351810 D RGD:5147617|PMID:19052351 20110819 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2841 asthma ISO RGD:1351810 D RGD:5147799|PMID:12890388 20110819 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2841 asthma ISO RGD:1351810 D RGD:5147831|PMID:11802952 20110822 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:2988 antiphospholipid syndrome ISO RGD:1351810 D RGD:5147862|PMID:11157139 20110825 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:3454 brain infarction ISO RGD:1351810 D RGD:5147807|PMID:11798899 20110822 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1351810 D RGD:127285393|PMID:9506344 20210621 RGD associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0102 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:399 tuberculosis ISO RGD:1351810 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism PMID:26829749 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:417 autoimmune disease ISO RGD:1351810 D RGD:5147554|PMID:21744463 20110811 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:418 systemic scleroderma susceptibility ISO RGD:1351810 D RGD:8547725|PMID:11014350 20140220 RGD DNA:polymorphism::HLA-DQA1*0501; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:437 myasthenia gravis ISO RGD:1351810 D RGD:5147855|PMID:10593018 20110825 RGD DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:437 myasthenia gravis susceptibility ISO RGD:1351810 D RGD:5147612|PMID:19561379 20110815 RGD DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:4483 rhinitis susceptibility ISO RGD:1351810 D RGD:5147798|PMID:14990915 20110819 RGD DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:4989 pancreatitis ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217962 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1351810 D RGD:126925986|PMID:17845309 20210525 RGD associated with hepatitis B;DNA:polymorphism: :HLA-DQA1*0104 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1351810 D RGD:14401563|PMID:23321320 20190509 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs910049, rs3135363(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351810 D RGD:5147817|PMID:18427198 20110822 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:576 proteinuria ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:633 myositis ISO RGD:1351810 D RGD:5147629|PMID:17586554 20110816 RGD DNA:polymorphism, haplotype:cds:HLA-DQA1*05 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:633 myositis susceptibility ISO RGD:1351810 D RGD:5147793|PMID:16609350 20110819 RGD DNA:polymorphisms:multiple 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:633 myositis susceptibility ISO RGD:1351810 D RGD:5147869|PMID:9550481 20110825 RGD DNA:polymorphisms:multiple 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:633 myositis susceptibility ISO RGD:1351810 D RGD:8547570|PMID:8814062 20140218 RGD DNA:polymorphisms: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351810 D RGD:5147815|PMID:19811310 20110822 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351810 D RGD:5147863|PMID:10457895 20110825 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351810 D RGD:14398839|PMID:30160782 20190506 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs9272105(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351810 D RGD:14401561|PMID:24204805 20190509 RGD associated with Hepatitis B, Chronic;DNA:SNPs, haplotype: : rs9275572, rs2596542(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:7147 ankylosing spondylitis severity ISO RGD:1351810 D RGD:5147611|PMID:19565552 20110815 RGD DNA:polymorphism:cds:HLA-DQA1*0401 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:7148 rheumatoid arthritis ISO RGD:1351810 D RGD:5147860|PMID:11454644 20110825 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:7148 rheumatoid arthritis ISO rgd:1351810 D RGD:5147859|PMID:11482129 20110825 RGD DNA:polymorphisms (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:1351810 D RGD:2301816|PMID:12948297 20081103 RGD associated with Diabetes Mellitus, Insulin-Dependent 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:7693 abdominal aortic aneurysm ISO RGD:1351810 D RGD:5147824|PMID:17182961 20110822 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:848 arthritis ISO RGD:1351810 D RGD:5147787|PMID:20472930 20110819 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:8544 chronic fatigue syndrome ISO RGD:1351810 D RGD:5147827|PMID:16049290 20110822 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:8544 chronic fatigue syndrome susceptibility ISO RGD:1351810 D RGD:5147827|PMID:16049290 20210621 RGD DNA:polymorphism: :HLA-DQA1*01 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:8552 chronic myeloid leukemia ISO RGD:1353906|RGD:1351810 D RGD:11041777|PMID:17893434 20160329 RGD DNA:polymorphism, haplotype 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:8552 chronic myeloid leukemia onset ISO RGD:1351810 D RGD:11041781|PMID:17387388 20160329 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:8893 psoriasis susceptibility ISO RGD:1351810 D RGD:5147797|PMID:15009387 20110819 RGD DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*0201, HLA-DQA1*0501 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:8986 narcolepsy susceptibility ISO RGD:1351810 D RGD:5147861|PMID:11179016 20110825 RGD DNA:polymorphisms:cds:multiple 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1351810 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9001472 Nasal Polyps ISO RGD:1351810 D RGD:5147813|PMID:10718431 20110822 RGD associated with intrinsic asthma;DNA:polymorphism:cds:HLA-DQA1*0201 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1351810 D RGD:8547658|PMID:16890076 20140219 RGD DNA:polymorphism,haplotype: :HLA-DQA1*0201 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9002433 Schistosomiasis Japonica susceptibility ISO RGD:1351810 D RGD:14398841|PMID:16042197 20190506 RGD DNA:polymorphisms: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9002605 Delayed Hypersensitivity IDA D RGD:5147666|PMID:9834080 20110817 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:5147666|PMID:9834080 20110817 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5147622|PMID:18050272 20110816 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5147639|PMID:16723470 20110816 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9003817 Sudden Hearing Loss treatment ISO RGD:1351810 D RGD:8547564|PMID:11493203 20140218 RGD DNA:polymorphism: : HLA-DQA1*01 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9004017 Chronic Hepatitis C ISO RGD:1351810 D RGD:14401559|PMID:9537846 20190509 RGD DNA:polymorphism:haplotype: 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1351810 D RGD:14398842|PMID:8938158 20190506 RGD DNA:polymorphism: :HLA DQA1*03(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9005236 Drug Eruptions susceptibility ISO RGD:1351810 D RGD:8547665|PMID:16836882 20140219 RGD DNA:polymorphisms:exon: 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9005507 Amyopathic Dermatomyositis ISO RGD:1351810 D RGD:5147790|PMID:18671865 20110819 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9005507 Amyopathic Dermatomyositis ISO RGD:1351810 D RGD:5147796|PMID:15067086 20110819 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9005507 Amyopathic Dermatomyositis susceptibility ISO RGD:1351810 D RGD:8547569|PMID:8666549 20140218 RGD DNA:polymorphism: :HLA-DQA1*0501; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9006265 Spinal Tuberculoses susceptibility ISO RGD:1351810 D RGD:126928140|PMID:29795056 20210601 RGD DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:1351810 D RGD:5147802|PMID:12556395 20110819 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9006779 Discoid Lupus Erythematosus susceptibility ISO RGD:1351810 D RGD:8547567|PMID:7883595 20140218 RGD DNA:polymorphism: :HLA-DQA1*0102 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9007096 Stroke susceptibility ISO RGD:1351810 D RGD:5147807|PMID:11798899 20110822 RGD DNA:polymorphisms:cds:HLA-DQA1*0103, HLA-DQA1*0301 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1351810 D RGD:5147613|PMID:19254248 20110815 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1351810 D RGD:14398844|PMID:20639878 20190506 RGD DNA:polymorphism: :HLA-DQA1*0102(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1351810 D RGD:14401573|PMID:12359646 20190513 RGD associated with tuberculosis;DNA:polymorphism: :HLA-DQA1*0102(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9007417 Pseudomonas Infections ISO RGD:1351810 D RGD:5147865|PMID:10228112 20110825 RGD associated with Cystic Fibrosis;DNA:polymorphisms, haplotype:cds:HLA-DQA1*0201 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008114 Helicobacter Infections resistance ISO RGD:1351810 D RGD:2301818|PMID:11860411 20081103 RGD associated with Diabetes Mellitus, Insulin-Dependent 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1351810 D RGD:14398840|PMID:16883532 20190506 RGD DNA:haplotype:: 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351810 D RGD:14398755|PMID:30168489 20210618 RGD DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351810 D RGD:14398759|PMID:14562382 20190429 RGD DNA:polymorphism: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351810 D RGD:14398843|PMID:22807686 20190506 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1351810 D RGD:14398752|PMID:27386643 20190429 RGD DNA:polymorphisms: : 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1351810 D RGD:14398838|PMID:15237447 20190506 RGD DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9074 systemic lupus erythematosus ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436868 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9146 visceral leishmaniasis ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291585 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:1351810 D RGD:127285406|PMID:23291585 20210621 RGD DNA:SNP:enhancer: (rs9271858) (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9164 achalasia ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997987 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9164 achalasia ISO RGD:1351810 D RGD:5147806|PMID:11837716 20110822 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9182 pemphigus ISO RGD:1351810 D RGD:5147619|PMID:18780165 20110816 RGD DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351810 D RGD:2301814|PMID:16331578 20081103 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168013 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351810 D RGD:2301817|PMID:12021143 20081103 RGD DNA:polymorphisms: :multiple 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351810 D RGD:5147626|PMID:17728790 20110816 RGD DNA:polymorphism (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1351810 D RGD:2301812|PMID:16731854 20081103 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1351810 D RGD:2301811|PMID:18769865 20081103 RGD 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:986 alopecia areata susceptibility ISO RGD:1351810 D RGD:8547568|PMID:16231148 20140218 RGD DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351810 D RGD:11041762|PMID:9744491 20160328 RGD DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) 1595867 RT1-Ba RT1 class II, locus Ba gene DOID:998 eosinophilia-myalgia syndrome ISO RGD:1351810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19790128 1595868 RT1-CE5 RT1 class I, locus CE5 gene DOID:11372 megacolon ISO RGD:1345133 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1595868 RT1-CE5 RT1 class I, locus CE5 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1595870 Ppp1r37 protein phosphatase 1, regulatory subunit 37 gene DOID:630 genetic disease ISO RGD:2293904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595901 Serpina6 serpin family A member 6 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 1595901 Serpina6 serpin family A member 6 gene DOID:0081063 DICER1 syndrome ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 1595901 Serpina6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:7240710 20130221 OMIM 1595901 Serpina6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency PMID:10634411|PMID:11502797|PMID:12780753|PMID:17245537|PMID:25741868|PMID:7061486|PMID:8212073 1595901 Serpina6 serpin family A member 6 gene DOID:5082 liver cirrhosis ISO RGD:1353758 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1595901 Serpina6 serpin family A member 6 gene DOID:630 genetic disease ISO RGD:1353758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595901 Serpina6 serpin family A member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353758 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1595901 Serpina6 serpin family A member 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353758 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1595901 Serpina6 serpin family A member 6 gene DOID:9452 fatty liver disease ISO RGD:1353758 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 1595906 Prrc2b proline-rich coiled-coil 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1595906 Prrc2b proline-rich coiled-coil 2B gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1346299 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 1595906 Prrc2b proline-rich coiled-coil 2B gene DOID:630 genetic disease ISO RGD:1346299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595908 Slc35g1 solute carrier family 35, member G1 gene DOID:10283 prostate cancer ISO RGD:1354059 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1595908 Slc35g1 solute carrier family 35, member G1 gene DOID:630 genetic disease ISO RGD:1354059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595911 Tmem145 transmembrane protein 145 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1595911 Tmem145 transmembrane protein 145 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1595911 Tmem145 transmembrane protein 145 gene DOID:2340 craniosynostosis ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1595911 Tmem145 transmembrane protein 145 gene DOID:5419 schizophrenia ISO RGD:1602052 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1595911 Tmem145 transmembrane protein 145 gene DOID:630 genetic disease ISO RGD:1602052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595911 Tmem145 transmembrane protein 145 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1595911 Tmem145 transmembrane protein 145 gene DOID:9269 maple syrup urine disease ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 1595918 Smg6 SMG6 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1320039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595918 Smg6 SMG6 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320039 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1595919 Cyp3a62 cytochrome P450, family 3, subfamily a, polypeptide 62 gene DOID:2987 familial Mediterranean fever sexual_dimorphism ISO RGD:1352962 D RGD:39456097|PMID:23408444 20201002 RGD DNA:SNPs: :15713T>C,15615T>C (human) 1595919 Cyp3a62 cytochrome P450, family 3, subfamily a, polypeptide 62 gene DOID:9004009 Reperfusion Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:0050553 JMP syndrome ISO RGD:1605730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:11678 onchocerciasis ISO RGD:1605730 D RGD:6480649|PMID:8854084 20120328 RGD 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:2043 hepatitis B disease_progression ISO RGD:1605730 D RGD:14694816|PMID:27051043 20190614 RGD DNA:SNP: :rs3077(human) 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:2772 irritant dermatitis ISO RGD:1605730 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:2841 asthma susceptibility ISO RGD:1605730 D RGD:13506911|PMID:21814517 20180222 RGD DNA:polymorphism: : 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:5082 liver cirrhosis severity ISO RGD:1605730 D RGD:14694972|PMID:10203020 20190619 RGD DAN:polymorphism: : 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:684 hepatocellular carcinoma ISO RGD:1605730 D RGD:14694974|PMID:20165882 20190619 RGD DNA:hypomethylation: CpG islands: 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:8778 Crohn's disease ISO RGD:1605730 D RGD:6480648|PMID:12073072 20120328 RGD 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1605730 D RGD:14694819|PMID:24897020 20190614 RGD DNA:SNP, haplotype: :rs3077, rs9277534(human) 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605730 D RGD:14694817|PMID:30267609 20190614 RGD mRNA:decreased expression:peripheral blood mononuclear cell: 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1605730 D RGD:14694818|PMID:28275747 20190614 RGD DNA:polymorphism::HLA-DPA1*04:01(human) 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1605730 D RGD:14694817|PMID:30267609 20190614 RGD DNA:SNP: :rs3077(human) 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1605730 D RGD:14694973|PMID:29300980 20190619 RGD DNA:SNP: :rs3077(human) 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9415 allergic asthma susceptibility ISO RGD:1605730 D RGD:13506910|PMID:28380482 20180223 RGD DNA:polymorphism: 1595921 RT1-Ha RT1 class II, locus Ha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1605730 D RGD:6480651|PMID:7576003 20120328 RGD 1595923 RT1-A2 RT1 class Ia, locus A2 gene DOID:0080820 occupational asthma susceptibility ISO RGD:1353823 D RGD:9068941 20211217 RGD DNA:SNP: :rs1573294(human) PMID:24709764|REF_RGD_ID:13506912 1595923 RT1-A2 RT1 class Ia, locus A2 gene DOID:11372 megacolon ISO RGD:1353823 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1595923 RT1-A2 RT1 class Ia, locus A2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1558332 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1595923 RT1-A2 RT1 class Ia, locus A2 gene DOID:9088 parapsoriasis ISO RGD:1353823 D RGD:11554173 20211221 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 1595924 RT1-A1 RT1 class Ia, locus A1 gene DOID:0081267 graft-versus-host disease IDA D RGD:2313505|PMID:11045643 20090929 RGD 1595924 RT1-A1 RT1 class Ia, locus A1 gene DOID:9002605 Delayed Hypersensitivity IDA D RGD:2313507|PMID:10857851 20090929 RGD 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:0050553 JMP syndrome ISO RGD:1353078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:0060500 drug allergy ISO RGD:1353078 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16538175 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1353078 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:28126021 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:13141 uveitis ISO RGD:1353078 D RGD:5147597|PMID:17591867 20110815 RGD associated with Sarcoidosis;DNA:SNP:exon:rs2075800 (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:13378 Kawasaki disease ISO RGD:1353078 D RGD:8662464|PMID:23870089 20140624 RGD DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:1470 major depressive disorder ISO RGD:1353078 D RGD:5147598|PMID:17428599 20110815 RGD DNA:SNPs: :rs2075799, rs2227956 (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353078 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:5419 schizophrenia ISO RGD:1353078 D RGD:5147596|PMID:18299791 20110815 RGD DNA:silent mutation, missense mutation, haplotype:cds: (rs2075799, rs2227956) (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:630 genetic disease ISO RGD:1353078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:8778 Crohn's disease ISO RGD:1353078 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:28126021 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353078 D RGD:8662466|PMID:17009596 20140624 RGD DNA:SNP, haplotype: :rs2227956 (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:9003817 Sudden Hearing Loss ISO RGD:1353078 D RGD:8662465|PMID:22922572 20140624 RGD DNA:SNP, haplotype: :rs2075800 (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1353078 D RGD:8662461|PMID:15024131 20140624 RGD DNA:polymorphism, haplotype: :p.M493T (human) 1595925 Hspa1l heat shock protein family A (Hsp70) member 1 like gene DOID:9074 systemic lupus erythematosus ISO RGD:1353078 D RGD:5147600|PMID:20498198 20110815 RGD DNA:SNPs: :rs2075800, rs2227956 (human) 1595926 Il17d interleukin 17D gene DOID:0081312 T-cell non-Hodgkin lymphoma severity ISO RGD:1558575 D RGD:40903065|PMID:31244826 20210107 RGD 1595926 Il17d interleukin 17D gene DOID:0110253 cataract 14 multiple types ISO RGD:1348652 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 1595926 Il17d interleukin 17D gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1348652 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 1595926 Il17d interleukin 17D gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 1595926 Il17d interleukin 17D gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 1595926 Il17d interleukin 17D gene DOID:11573 listeriosis severity ISO RGD:1558575 D RGD:40903065|PMID:31244826 20210107 RGD 1595926 Il17d interleukin 17D gene DOID:14693 Clouston syndrome ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 1595926 Il17d interleukin 17D gene DOID:1909 melanoma severity ISO RGD:1558575 D RGD:40903065|PMID:31244826 20210107 RGD 1595926 Il17d interleukin 17D gene DOID:2121 ectodermal dysplasia ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 1595926 Il17d interleukin 17D gene DOID:2280 hidradenitis suppurativa sexual_dimorphism ISO RGD:1348652 D RGD:9068941 20210108 RGD mRNA:increased expression:apocrine gland (human) PMID:32031713|REF_RGD_ID:40903066 1595926 Il17d interleukin 17D gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:1348652 D RGD:9068941 20210108 RGD Protein:increased expression:blood plasma (human) PMID:28592538|REF_RGD_ID:40903074 1595926 Il17d interleukin 17D gene DOID:630 genetic disease ISO RGD:1348652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595926 Il17d interleukin 17D gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1348652 D RGD:9068941 20210108 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) PMID:27875997|REF_RGD_ID:40903073 1595926 Il17d interleukin 17D gene DOID:9004484 Sepsis severity ISO RGD:1558575 D RGD:40903064|PMID:31634237 20210107 RGD 1595926 Il17d interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1348652 D RGD:40903064|PMID:31634237 20210107 RGD protein:increased expression:blood serum (human) 1595926 Il17d interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1558575 D RGD:40903064|PMID:31634237 20210107 RGD 1595926 Il17d interleukin 17D gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558575 D RGD:40903063|PMID:30209334 20210107 RGD 1595947 Lrrc75a leucine rich repeat containing 75A gene DOID:630 genetic disease ISO RGD:1604449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1349646 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1349646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0110698 hypotrichosis 1 ISO RGD:1349646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18297070 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:7240710 20220216 OMIM 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:1059 intellectual disability ISO RGD:1349646 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:4535 hypotrichosis ISO RGD:1349646 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:18297072 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:630 genetic disease ISO RGD:1349646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:15877282|PMID:17096365|PMID:17301081|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:17096365|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 1595950 Lpar6 lysophosphatidic acid receptor 6 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1349646 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:21426374|PMID:25741868 1595953 Ankrd63 ankyrin repeat domain 63 gene DOID:2717 Bloom syndrome ISO RGD:5132170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1595953 Ankrd63 ankyrin repeat domain 63 gene DOID:630 genetic disease ISO RGD:5132170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595953 Ankrd63 ankyrin repeat domain 63 gene DOID:9256 colorectal cancer ISO RGD:5132170 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1595972 Tmem107 transmembrane protein 107 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603948 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:27571260 1595972 Tmem107 transmembrane protein 107 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1595972 Tmem107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:7240710 20190315 OMIM 1595972 Tmem107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome 13 PMID:25741868|PMID:26123494|PMID:26595381 1595972 Tmem107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:7240710 20190315 OMIM 1595972 Tmem107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI PMID:25741868|PMID:26595381 1595972 Tmem107 transmembrane protein 107 gene DOID:0080600 COVID-19 ISO RGD:1603948 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1595972 Tmem107 transmembrane protein 107 gene DOID:12177 common variable immunodeficiency ISO RGD:1603948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 1595972 Tmem107 transmembrane protein 107 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1595972 Tmem107 transmembrane protein 107 gene DOID:2729 dyskeratosis congenita ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1595972 Tmem107 transmembrane protein 107 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1595972 Tmem107 transmembrane protein 107 gene DOID:630 genetic disease ISO RGD:1603948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595972 Tmem107 transmembrane protein 107 gene DOID:9003124 Labrune Syndrome ISO RGD:1603948 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:31521395|PMID:32342562|PMID:33029936 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:0050712 AGAT deficiency ISO RGD:1317463 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:2717 Bloom syndrome ISO RGD:1317463 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:630 genetic disease ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:7240710 20220216 OMIM 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder PMID:25741868|PMID:28492532|PMID:34626583 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:7240710 20211208 OMIM 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 PMID:25741868|PMID:28492532|PMID:34626583 1595990 Afg2b AFG2 AAA ATPase homolog B gene DOID:9256 colorectal cancer ISO RGD:1317463 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1595996 C1h19orf18 similar to human chromosome 19 open reading frame 18 gene DOID:303 substance-related disorder ISO RGD:1342903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1344563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0050777 Joubert syndrome ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1344563 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0080006 bone development disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25569260|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:7240710 20190710 OMIM 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16199547|PMID:16299065|PMID:16618819|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17576681|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18954329|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20652909|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22922270|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25205549|PMID:25326637|PMID:25569260|PMID:25741868|PMID:25959671|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29077208|PMID:29114388|PMID:29146883|PMID:29531467|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:30993493|PMID:31203817|PMID:31530980|PMID:31618753|PMID:31681265|PMID:32135276|PMID:32185379|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33425813|PMID:33726816|PMID:33859323|PMID:34093558|PMID:34426522|PMID:34441032|PMID:34573280|PMID:34975878|PMID:8072530|PMID:9536098 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:11162 respiratory failure ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:11701 selective IgA deficiency disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IgAD1 PMID:17697196|PMID:18200502|PMID:18978466|PMID:18981294|PMID:19629655|PMID:21419480|PMID:21458042|PMID:21850030|PMID:22627058|PMID:22697072|PMID:22884984|PMID:25741868|PMID:27123465|PMID:28492532|PMID:30290665|PMID:31681265|PMID:34975878 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:11836 clubfoot ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:12177 common variable immunodeficiency ISO RGD:1344563 D RGD:11554173 20190716 CTD CTD Direct Evidence: marker/mechanism 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:12177 common variable immunodeficiency ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:34975878|PMID:8072530 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:12849 autistic disorder ISO RGD:1344563 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:13832 patent ductus arteriosus ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:1826 epilepsy ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17464555|PMID:20652909|PMID:25741868|PMID:28492532|PMID:33859323|PMID:34441032 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:3082 interstitial lung disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:630 genetic disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:674 cleft palate ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:850 lung disease ISO RGD:1344563 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9000998 Brain Injuries ISO RGD:1344563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:7240710 20130221 OMIM 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17947292|PMID:17983875|PMID:18496551|PMID:18509552|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:8072530 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9005616 Micrognathism ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9007769 Pseudarthrosis ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoarthrosis PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9074 systemic lupus erythematosus ISS RGD:1618388 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1595998 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9538 multiple myeloma ISO RGD:1344563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 1596010 C2cd4a C2 calcium-dependent domain containing 4A gene DOID:10485 esophageal atresia ISO RGD:1606712 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 1596010 C2cd4a C2 calcium-dependent domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1606712 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1596010 C2cd4a C2 calcium-dependent domain containing 4A gene DOID:630 genetic disease ISO RGD:1606712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596010 C2cd4a C2 calcium-dependent domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1606712 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1596010 C2cd4a C2 calcium-dependent domain containing 4A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 1596020 Cd33 CD33 molecule gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 1596020 Cd33 CD33 molecule gene DOID:10652 Alzheimer's disease ISO RGD:1347694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 1596020 Cd33 CD33 molecule gene DOID:630 genetic disease ISO RGD:1347694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596020 Cd33 CD33 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:1347694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12921496 1596023 Cys1 cystin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606435 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:34521872 1596023 Cys1 cystin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1615201 D RGD:7175541|PMID:11854326 20121207 RGD 1596023 Cys1 cystin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:1615201 D RGD:13592920 20180518 MouseDO OMIM:263200 1596023 Cys1 cystin 1 gene DOID:10534 stomach cancer severity ISO RGD:1606435 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 1596023 Cys1 cystin 1 gene DOID:630 genetic disease ISO RGD:1606435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1605521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:12849 autistic disorder ISO RGD:1605521 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:630 genetic disease ISO RGD:1605521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605521 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:9263 homocystinuria ISO RGD:1605521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1596032 Krtap10-9 keratin associated protein 10-9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1596039 Accsl 1-aminocyclopropane-1-carboxylate synthase-like gene DOID:1059 intellectual disability ISO RGD:2302255 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596039 Accsl 1-aminocyclopropane-1-carboxylate synthase-like gene DOID:630 genetic disease ISO RGD:2302255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1605519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:12849 autistic disorder ISO RGD:1605519 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:630 genetic disease ISO RGD:1605519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605519 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:9263 homocystinuria ISO RGD:1605519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1596048 LOC690460 similar to keratin associated protein 10-7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1596058 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1314966 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 1596058 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:3883 Lynch syndrome ISO RGD:1314966 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 1596058 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1314966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596060 Tas2r120 taste receptor, type 2, member 120 gene DOID:10283 prostate cancer ISO RGD:1350205 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1596060 Tas2r120 taste receptor, type 2, member 120 gene DOID:630 genetic disease ISO RGD:1350205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596066 Tmem116 transmembrane protein 116 gene DOID:630 genetic disease ISO RGD:1603287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596067 Atp5mf ATP synthase membrane subunit f gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345847 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602043 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:7240710 20210623 OMIM 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 54 PMID:32503832 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:630 genetic disease ISO RGD:1602043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596071 Catip ciliogenesis associated TTC17 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602043 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596075 Rnf186 ring finger protein 186 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1596075 Rnf186 ring finger protein 186 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1596075 Rnf186 ring finger protein 186 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1601756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1596075 Rnf186 ring finger protein 186 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1596075 Rnf186 ring finger protein 186 gene DOID:630 genetic disease ISO RGD:1601756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596075 Rnf186 ring finger protein 186 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:12849 autistic disorder ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:630 genetic disease ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:9263 homocystinuria ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 1596076 Krtap10-10 keratin associated protein 10-10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1596090 Rbbp8nl RBBP8 N-terminal like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1596090 Rbbp8nl RBBP8 N-terminal like gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1596090 Rbbp8nl RBBP8 N-terminal like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 1596090 Rbbp8nl RBBP8 N-terminal like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353930 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 1596090 Rbbp8nl RBBP8 N-terminal like gene DOID:630 genetic disease ISO RGD:1353930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596098 Rab36 RAB36, member RAS oncogene family gene DOID:11198 DiGeorge syndrome ISO RGD:1347973 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1596098 Rab36 RAB36, member RAS oncogene family gene DOID:5419 schizophrenia ISO RGD:1347973 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1596098 Rab36 RAB36, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1347973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596102 Bpifa3 BPI fold containing family A, member 3 gene DOID:630 genetic disease ISO RGD:1347929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596107 Kin Kin17 DNA and RNA binding protein gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315717 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 1596107 Kin Kin17 DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1315717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596128 Tmem64 transmembrane protein 64 gene DOID:630 genetic disease ISO RGD:1606436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596130 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1596130 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1353753 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1596130 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1596130 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:630 genetic disease ISO RGD:1353753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596132 Tmem25 transmembrane protein 25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1596132 Tmem25 transmembrane protein 25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1596132 Tmem25 transmembrane protein 25 gene DOID:0080690 RASopathy ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1596132 Tmem25 transmembrane protein 25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1350182 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1596132 Tmem25 transmembrane protein 25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1350182 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1596132 Tmem25 transmembrane protein 25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1596132 Tmem25 transmembrane protein 25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1596132 Tmem25 transmembrane protein 25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1596132 Tmem25 transmembrane protein 25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1596132 Tmem25 transmembrane protein 25 gene DOID:630 genetic disease ISO RGD:1350182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596132 Tmem25 transmembrane protein 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350182 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1596132 Tmem25 transmembrane protein 25 gene DOID:9007661 Dwarfism ISO RGD:1350182 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1596132 Tmem25 transmembrane protein 25 gene DOID:9008939 Breast Neoplasms ISO RGD:1350182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 1596143 Gabarapl1 GABA type A receptor associated protein like 1 gene DOID:0080600 COVID-19 ISO RGD:1317596 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1596143 Gabarapl1 GABA type A receptor associated protein like 1 gene DOID:630 genetic disease ISO RGD:1317596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596153 Ccdc87 coiled-coil domain containing 87 gene DOID:1059 intellectual disability ISO RGD:1602481 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596153 Ccdc87 coiled-coil domain containing 87 gene DOID:630 genetic disease ISO RGD:1602481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596153 Ccdc87 coiled-coil domain containing 87 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1596153 Ccdc87 coiled-coil domain containing 87 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1596162 Snx29 sorting nexin 29 gene DOID:5419 schizophrenia ISO RGD:1604256 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1596162 Snx29 sorting nexin 29 gene DOID:630 genetic disease ISO RGD:1604256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596170 Sec61g Sec61 translocon subunit gamma gene DOID:12849 autistic disorder ISO RGD:1314869 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596170 Sec61g Sec61 translocon subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314869 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1596170 Sec61g Sec61 translocon subunit gamma gene DOID:630 genetic disease ISO RGD:1314869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596186 Septin14 septin 14 gene DOID:12849 autistic disorder ISO RGD:1602813 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596186 Septin14 septin 14 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1602813 D RGD:13504669|PMID:27115672 20180116 RGD DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) 1596186 Septin14 septin 14 gene DOID:3068 glioblastoma ISO RGD:1602813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 1596186 Septin14 septin 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602813 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1596186 Septin14 septin 14 gene DOID:630 genetic disease ISO RGD:1602813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596188 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1313360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 1596188 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:12849 autistic disorder ISO RGD:1313360 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596188 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:5419 schizophrenia ISO RGD:1313360 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1596188 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:630 genetic disease ISO RGD:1313360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596195 Slc25a31 solute carrier family 25 member 31 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606496 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 1596195 Slc25a31 solute carrier family 25 member 31 gene DOID:630 genetic disease ISO RGD:1606496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596197 Vstm2a V-set and transmembrane domain containing 2A gene DOID:12849 autistic disorder ISO RGD:1604199 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596197 Vstm2a V-set and transmembrane domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604199 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1596197 Vstm2a V-set and transmembrane domain containing 2A gene DOID:630 genetic disease ISO RGD:1604199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:12365 malaria ISO RGD:1347611 D RGD:7240710 20230505 OMIM 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:12365 malaria ISO RGD:1347611 D RGD:8554872 20160607 ClinVar ClinVar Annotator: match by term: Plasmodium vivax, resistance to PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:7240710 20200527 OMIM 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347611 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1347611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:9681736|PMID:24429330 20141205 RGD 1596198 Ackr1 atypical chemokine receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347611 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596200 Best4 bestrophin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1596200 Best4 bestrophin 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344321 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1596200 Best4 bestrophin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1596200 Best4 bestrophin 4 gene DOID:630 genetic disease ISO RGD:1344321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596201 Chml CHM like Rab escort protein gene DOID:0111261 fumarase deficiency ISO RGD:1313260 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 1596201 Chml CHM like Rab escort protein gene DOID:1540 parathyroid carcinoma ISO RGD:1313260 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596201 Chml CHM like Rab escort protein gene DOID:2841 asthma ISO RGD:1313260 D RGD:5133238|PMID:18343558 20110608 RGD 1596201 Chml CHM like Rab escort protein gene DOID:630 genetic disease ISO RGD:1313260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596201 Chml CHM like Rab escort protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313260 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596201 Chml CHM like Rab escort protein gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1313260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 1596201 Chml CHM like Rab escort protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313260 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596237 Myo1h myosin IH gene DOID:630 genetic disease ISO RGD:1350940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596237 Myo1h myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:7240710 20211020 OMIM 1596237 Myo1h myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction PMID:25741868|PMID:28779001 1596242 Mmab metabolism of cobalamin associated B gene DOID:0050452 mevalonic aciduria ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:23707710|PMID:24033266|PMID:25741868|PMID:28492532 1596242 Mmab metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:7240710 20130425 OMIM 1596242 Mmab metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:12471062|PMID:15044458|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:18452306|PMID:19625202|PMID:20301409|PMID:20549364|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23674520|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:25760844|PMID:26589311|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:30041674|PMID:30712249|PMID:31260114|PMID:31622506|PMID:33453710|PMID:33552909|PMID:34796408|PMID:9536098 1596242 Mmab metabolism of cobalamin associated B gene DOID:0081329 glycogen storage disease I ISO RGD:1347796 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:24033266|PMID:25741868|PMID:28492532 1596242 Mmab metabolism of cobalamin associated B gene DOID:14749 methylmalonic acidemia ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12471062|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:26589311|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:31260114|PMID:34796408|PMID:9536098 1596242 Mmab metabolism of cobalamin associated B gene DOID:2749 glycogen storage disease Ia ISO RGD:1347796 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hepatorenal form of glycogen storage disease PMID:24033266|PMID:25741868|PMID:28492532 1596242 Mmab metabolism of cobalamin associated B gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1347796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 1596242 Mmab metabolism of cobalamin associated B gene DOID:630 genetic disease ISO RGD:1347796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12471062|PMID:15044458|PMID:15781192|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:22614770|PMID:23674520|PMID:23707710|PMID:24059531|PMID:25741868|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29197662|PMID:30022420|PMID:30712249|PMID:31260114|PMID:33453710|PMID:34796408|PMID:9536098 1596242 Mmab metabolism of cobalamin associated B gene DOID:655 inherited metabolic disorder ISO RGD:1347796 D RGD:1600420|PMID:12471062 20070308 RGD methylmalonic aciduria, cblB type, OMIM:251110 1596242 Mmab metabolism of cobalamin associated B gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1347796 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:24033266|PMID:25741868|PMID:26202976|PMID:28492532 1596276 Haspin histone H3 associated protein kinase gene DOID:3613 Canavan disease ISO RGD:1353091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 1596276 Haspin histone H3 associated protein kinase gene DOID:630 genetic disease ISO RGD:1353091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596290 Traf1 TNF receptor-associated factor 1 gene DOID:13832 patent ductus arteriosus ISO RGD:1351243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 1596290 Traf1 TNF receptor-associated factor 1 gene DOID:2377 multiple sclerosis ISO RGD:1351243 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 1596290 Traf1 TNF receptor-associated factor 1 gene DOID:630 genetic disease ISO RGD:1351243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596290 Traf1 TNF receptor-associated factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:23143596 1596290 Traf1 TNF receptor-associated factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 1596290 Traf1 TNF receptor-associated factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1596295 Slc16a9 solute carrier family 16, member 9 gene DOID:630 genetic disease ISO RGD:1347871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596307 Aqp10 aquaporin 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1596307 Aqp10 aquaporin 10 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1596307 Aqp10 aquaporin 10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1596307 Aqp10 aquaporin 10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1596307 Aqp10 aquaporin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1344809 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596307 Aqp10 aquaporin 10 gene DOID:5812 MHC class II deficiency ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1596307 Aqp10 aquaporin 10 gene DOID:630 genetic disease ISO RGD:1344809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596307 Aqp10 aquaporin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344809 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:7240710 20200115 OMIM 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31607425 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:1059 intellectual disability ISO RGD:1343743 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343743 D RGD:153350086|PMID:22491060 20220906 RGD mRNA:decreased expression:lung (human) 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1343743 D RGD:153350085|PMID:24902879 20220906 RGD 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:630 genetic disease ISO RGD:1343743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1343743 D RGD:153344600|PMID:21966491 20220830 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343743 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343743 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9006618 Liver Metastasis ISO RGD:1343743 D RGD:153344589|PMID:22662237 20220829 RGD human cells in mouse model 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9008582 Developmental Disease ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1596313 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9009121 lung metastasis ISO RGD:1343743 D RGD:153344604|PMID:18084281 20220830 RGD human cells in mouse model 1596322 Tmprss11a transmembrane serine protease 11A gene DOID:630 genetic disease ISO RGD:1605232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596322 Tmprss11a transmembrane serine protease 11A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1596359 Islr immunoglobulin superfamily containing leucine-rich repeat gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 1596359 Islr immunoglobulin superfamily containing leucine-rich repeat gene DOID:2717 Bloom syndrome ISO RGD:1602010 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1596359 Islr immunoglobulin superfamily containing leucine-rich repeat gene DOID:5419 schizophrenia ISO RGD:1602010 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1596359 Islr immunoglobulin superfamily containing leucine-rich repeat gene DOID:630 genetic disease ISO RGD:1602010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596359 Islr immunoglobulin superfamily containing leucine-rich repeat gene DOID:9256 colorectal cancer ISO RGD:1602010 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1596391 Lyrm7 LYR motif containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1602082 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1596391 Lyrm7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:7240710 20140911 OMIM 1596391 Lyrm7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 8 PMID:24014394|PMID:25741868|PMID:26912632|PMID:28492532 1596391 Lyrm7 LYR motif containing 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1596391 Lyrm7 LYR motif containing 7 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 1596391 Lyrm7 LYR motif containing 7 gene DOID:630 genetic disease ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1596391 Lyrm7 LYR motif containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602082 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596391 Lyrm7 LYR motif containing 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1596392 Atg4d autophagy related 4D, cysteine peptidase gene DOID:0050753 cerebellar ataxia ISO RGD:12101885 D RGD:9068941 20210604 OMIA Neurodegenerative vacuolar storage disease PMID:25875846|PMID:28583040|PMID:33016245 1596392 Atg4d autophagy related 4D, cysteine peptidase gene DOID:630 genetic disease ISO RGD:1348604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596413 Ift25 intraflagellar transport 25 gene DOID:14766 renal agenesis ISO RGD:1345374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis 1596413 Ift25 intraflagellar transport 25 gene DOID:630 genetic disease ISO RGD:1345374 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596420 Ildr2 immunoglobulin-like domain containing receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345788 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596420 Ildr2 immunoglobulin-like domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1345788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596420 Ildr2 immunoglobulin-like domain containing receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345788 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596426 Hmgb4 high-mobility group box 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606732 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1596426 Hmgb4 high-mobility group box 4 gene DOID:630 genetic disease ISO RGD:1606732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1349627 D RGD:10766468|PMID:15226188 20160208 RGD DNA:haplotype:cds: 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060574 von Willebrand's disease 2 no_association ISO RGD:1349627 D RGD:10766469|PMID:16409463 20160208 RGD DNA:haplotype:: 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:10755462|PMID:19691478 20160128 RGD DNA:mutations:promoter, exon:multiple 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:10755469|PMID:21029361 20160128 RGD DNA:missense mutation: :p.N2D (97A>G) (human) 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:10755470|PMID:23912132 20160128 RGD 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:10766467|PMID:22394243 20160208 RGD DNA:mutation:cds:p.G13V(human) 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:7240710 20130508 OMIM 1596428 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:10607701|PMID:14687991|PMID:15099289|PMID:1638023|PMID:16722529|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21454453|PMID:21917754|PMID:22102273|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:9215749|PMID:9834222 1596428 Itga2b integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:10755467|PMID:21454453 20160128 RGD DNA:missense mutation: :p.R995W (human) 1596428 Itga2b integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15225244 1596428 Itga2b integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:1638023|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222 1596428 Itga2b integrin subunit alpha 2b gene DOID:2213 hemorrhagic disease ISO RGD:1349627 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 1596428 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:10755476|PMID:7529063 20160129 RGD DNA:insertion/deletion:exon 1596428 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:10755480|PMID:8111043 20160129 RGD DNA:deletion:exon 1596428 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:11554173 20220503 CTD CTD Direct Evidence: marker/mechanism 1596428 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia PMID:10607701|PMID:11091187|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16359514|PMID:1638023|PMID:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18791937|PMID:18976939|PMID:19170775|PMID:19172520|PMID:19175981|PMID:1926040|PMID:19339519|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22513797|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29675921|PMID:29884513|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9834222|PMID:9920835 1596428 Itga2b integrin subunit alpha 2b gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349627 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:decreased expression:lung (human) 1596428 Itga2b integrin subunit alpha 2b gene DOID:3410 carotid artery thrombosis ISO RGD:1349627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 1596428 Itga2b integrin subunit alpha 2b gene DOID:630 genetic disease ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1596428 Itga2b integrin subunit alpha 2b gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1596428 Itga2b integrin subunit alpha 2b gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1596428 Itga2b integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:7240710 20220427 OMIM 1596428 Itga2b integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:10607701|PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:1317725|PMID:15099289|PMID:16359514|PMID:16463284|PMID:1702098|PMID:17576681|PMID:1926040|PMID:19691478|PMID:20020534|PMID:2014236|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22513797|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28983057|PMID:29090484|PMID:29675921|PMID:30138987|PMID:31064749|PMID:31119735|PMID:32237906|PMID:32581362|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9920835 1596428 Itga2b integrin subunit alpha 2b gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1349627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 1596428 Itga2b integrin subunit alpha 2b gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1349627 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN PMID:2014236|PMID:25741868|PMID:28492532 1596428 Itga2b integrin subunit alpha 2b gene DOID:9004009 Reperfusion Injury IMP D RGD:2316361|PMID:11705748 20100209 RGD 1596428 Itga2b integrin subunit alpha 2b gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1557725 D RGD:2316362|PMID:11493456 20100209 RGD 1596428 Itga2b integrin subunit alpha 2b gene DOID:9005930 Endotoxemia IMP D RGD:2316360|PMID:15280099 20100209 RGD 1596428 Itga2b integrin subunit alpha 2b gene DOID:9007096 Stroke IMP D RGD:2316358|PMID:15678115 20100209 RGD 1596428 Itga2b integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1349627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 1596439 Eny2 ENY2, transcription and export complex 2 subunit gene DOID:630 genetic disease ISO RGD:1601985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISS RGD:1353175 D RGD:13592920 20180518 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353175 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1353175 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353175 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 PMID:19052029|PMID:23683030|PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1353175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26793055 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:7240710 20130731 OMIM 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:19481195|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1353175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:3177466 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:19481195|PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:30666632|PMID:3177466|PMID:33368194 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:10907 microcephaly ISO RGD:1353175 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:12849 autistic disorder ISO RGD:1353175 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1826 epilepsy ISO RGD:1353175 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1826 epilepsy ISO RGD:1353175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:607 paraplegia ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:630 genetic disease ISO RGD:1353175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15197169|PMID:15669143|PMID:17576681|PMID:18414213|PMID:19344873|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23934111|PMID:24306141|PMID:25741868|PMID:25914188|PMID:26467025|PMID:26539891|PMID:26544041|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27535533|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:3177466|PMID:7943039|PMID:8166633|PMID:8236453|PMID:9536098|PMID:9628581 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:8927 learning disability ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353175 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004603 Atkin Syndrome ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:19481195|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1353175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20473311 1596452 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1353175 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:19481195|PMID:20473311|PMID:25741868|PMID:3177466 1596453 Ackr4 atypical chemokine receptor 4 gene DOID:12712 nephronophthisis ISO RGD:1602221 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 1596453 Ackr4 atypical chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1602221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596453 Ackr4 atypical chemokine receptor 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1602221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1596453 Ackr4 atypical chemokine receptor 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602221 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 1596453 Ackr4 atypical chemokine receptor 4 gene DOID:9270 alkaptonuria ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1596463 Gpatch8 G patch domain containing 8 gene DOID:630 genetic disease ISO RGD:1604390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:7240710 20190315 OMIM 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID PMID:24459010|PMID:25741868|PMID:28065471|PMID:28492532 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1323585 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:7240710 20190315 OMIM 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 3 PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857|PMID:35675510 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:630 genetic disease ISO RGD:1323585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1323585 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:9008582 Developmental Disease ISO RGD:1323585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 1596464 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:936 brain disease ISO RGD:1323585 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 1596467 Tal2 TAL bHLH transcription factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351744 D RGD:1599285|PMID:1763056 20070131 RGD 1596467 Tal2 TAL bHLH transcription factor 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1351744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 1596467 Tal2 TAL bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596467 Tal2 TAL bHLH transcription factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351744 D RGD:7240710 20230505 OMIM 1596469 Wfdc11 WAP four-disulfide core domain 11 gene DOID:2234 focal epilepsy ISO RGD:1351256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1596469 Wfdc11 WAP four-disulfide core domain 11 gene DOID:630 genetic disease ISO RGD:1351256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596469 Wfdc11 WAP four-disulfide core domain 11 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1596480 Wfdc10a WAP four-disulfide core domain 10A gene DOID:2234 focal epilepsy ISO RGD:1315782 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1596480 Wfdc10a WAP four-disulfide core domain 10A gene DOID:630 genetic disease ISO RGD:1315782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596480 Wfdc10a WAP four-disulfide core domain 10A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1596488 Rskr ribosomal protein S6 kinase related gene DOID:630 genetic disease ISO RGD:1603276 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596493 LOC685203 hypothetical protein LOC685203 gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:1601946 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 1596493 LOC685203 hypothetical protein LOC685203 gene DOID:0111944 immunodeficiency 31B ISO RGD:1601946 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 1596493 LOC685203 hypothetical protein LOC685203 gene DOID:630 genetic disease ISO RGD:1601946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596493 LOC685203 hypothetical protein LOC685203 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1601946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1596493 LOC685203 hypothetical protein LOC685203 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601946 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596494 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 1596494 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1602687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596494 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 1596494 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1602687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 1596513 Nup43 nucleoporin 43 gene DOID:630 genetic disease ISO RGD:1605529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:25168386 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532|PMID:33393400|PMID:9536098 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:1342898 D RGD:8554872 20150623 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:25168386 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342898 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1342898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1342898 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532 1596516 Krtcap3 keratinocyte associated protein 3 gene DOID:630 genetic disease ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606303 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27666822 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:0050817 Stargardt disease ISO RGD:1606303 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606303 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:1339 Diamond-Blackfan anemia ISS RGD:1618983 D RGD:13592920 20180518 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606303 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1606303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:630 genetic disease ISO RGD:1606303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:28559085|PMID:30656474|PMID:31408049|PMID:32822874|PMID:9409377 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606303 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:8501 fundus dystrophy ISO RGD:1606303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30656474|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32984570|PMID:9536098 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:7240710 20130807 OMIM 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:17576681|PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:23591405|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27353947|PMID:27923065|PMID:28492532|PMID:28559085|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30444160|PMID:30656474|PMID:31408049|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32822874|PMID:32984570|PMID:9409377|PMID:9536098|PMID:9855554 1596541 Flvcr1 FLVCR heme transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606303 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596566 Cstf2 cleavage stimulation factor subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351144 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1596566 Cstf2 cleavage stimulation factor subunit 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 1596566 Cstf2 cleavage stimulation factor subunit 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 1596566 Cstf2 cleavage stimulation factor subunit 2 gene DOID:12849 autistic disorder ISO RGD:1351144 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596566 Cstf2 cleavage stimulation factor subunit 2 gene DOID:630 genetic disease ISO RGD:1351144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596566 Cstf2 cleavage stimulation factor subunit 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1351144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 1596570 Bend3 BEN domain containing 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1596570 Bend3 BEN domain containing 3 gene DOID:630 genetic disease ISO RGD:1347685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596692 Fam174b family with sequence similarity 174, member B gene DOID:630 genetic disease ISO RGD:1606862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596695 Rnf133 ring finger protein 133 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350521 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1596695 Rnf133 ring finger protein 133 gene DOID:630 genetic disease ISO RGD:1350521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1601821 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1601821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:1059 intellectual disability ISO RGD:1601821 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:630 genetic disease ISO RGD:1601821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596701 Cops9 COP9 signalosome subunit 9 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 1596707 Lrmda leucine rich melanocyte differentiation associated gene DOID:0060224 atrial fibrillation ISO RGD:1321229 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 1596707 Lrmda leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:7240710 20150708 OMIM 1596707 Lrmda leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 7 PMID:23395477|PMID:25741868|PMID:26818737|PMID:28492532|PMID:29345414|PMID:31694064 1596707 Lrmda leucine rich melanocyte differentiation associated gene DOID:303 substance-related disorder ISO RGD:1321229 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 1596707 Lrmda leucine rich melanocyte differentiation associated gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 1596709 Zcwpw2 zinc finger CW-type and PWWP domain containing 2 gene DOID:630 genetic disease ISO RGD:1347606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:7240710 20130425 OMIM 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:10391211|PMID:10391212|PMID:10401003|PMID:10465120|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:11960024|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:17576681|PMID:1783394|PMID:19933189|PMID:20664799|PMID:21147909|PMID:22317909|PMID:22917891|PMID:23077400|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26766544|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28418496|PMID:28492532|PMID:29425069|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30027431|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30902645|PMID:30913292|PMID:31253780|PMID:31630094|PMID:32005865|PMID:32100970|PMID:32565670|PMID:32587456|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:8931712|PMID:9536098 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8547535|PMID:23701314 20140217 RGD 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30913292|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:33546218|PMID:9536098 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:9536098 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:3007 breast ductal carcinoma ISO RGD:1318061 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:630 genetic disease ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527933|PMID:11960024|PMID:19933189|PMID:25883087|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1318061 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:28492532 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:8501 fundus dystrophy ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10391211|PMID:10391212|PMID:10401003|PMID:11095597|PMID:11139241|PMID:11527933|PMID:1783394|PMID:19933189|PMID:22334370|PMID:23991373|PMID:24339724|PMID:25494902|PMID:25692139|PMID:25698705|PMID:25741868|PMID:26355662|PMID:27160483|PMID:27208204|PMID:27391102|PMID:28041643|PMID:28076437|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29847639|PMID:30027431|PMID:30718709|PMID:30731082|PMID:30913292|PMID:31054281|PMID:31456290|PMID:32565670|PMID:32783370|PMID:33546218|PMID:33681214|PMID:8931712 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:9000343 Vision Disorders ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18791550|PMID:25741868|PMID:28492532 1596713 Rp1 RP1, axonemal microtubule associated gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:12764676|PMID:20664799|PMID:25741868|PMID:28492532 1596719 Nufip2 nuclear FMR1 interacting protein 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 1596719 Nufip2 nuclear FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1606255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1602822 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1602822 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:1826 epilepsy ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602822 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:2871 endometrial carcinoma ISO RGD:1602822 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:630 genetic disease ISO RGD:1602822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596720 Bricd5 BRICHOS domain containing 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1602822 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1596723 LOC681367 hypothetical protein LOC681367 gene DOID:0050444 infantile Refsum disease ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1596723 LOC681367 hypothetical protein LOC681367 gene DOID:630 genetic disease ISO RGD:1602792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596723 LOC681367 hypothetical protein LOC681367 gene DOID:905 Zellweger syndrome ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1596729 Pisd phosphatidylserine decarboxylase gene DOID:630 genetic disease ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1596729 Pisd phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:7240710 20200708 OMIM 1596729 Pisd phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease PMID:25741868|PMID:28492532|PMID:30488656|PMID:30858161|PMID:31263216|PMID:3561949 1596729 Pisd phosphatidylserine decarboxylase gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352965 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 1596731 E4f1 E4F transcription factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348626 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 1596731 E4f1 E4F transcription factor 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348626 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 1596731 E4f1 E4F transcription factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1596731 E4f1 E4F transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1596731 E4f1 E4F transcription factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348626 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1596731 E4f1 E4F transcription factor 1 gene DOID:2871 endometrial carcinoma ISO RGD:1348626 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 1596731 E4f1 E4F transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596731 E4f1 E4F transcription factor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348626 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 1596731 E4f1 E4F transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348626 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30506647 1596738 Letmd1 LETM1 domain containing 1 gene DOID:1612 breast cancer ISO RGD:1344708 D RGD:2314917|PMID:19208263 20091208 RGD protein:increased expression:breast 1596738 Letmd1 LETM1 domain containing 1 gene DOID:363 uterine cancer ISO RGD:1344708 D RGD:2314918|PMID:12879013 20091208 RGD mRNA:increased expression:uterine cervix 1596738 Letmd1 LETM1 domain containing 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344708 D RGD:2314918|PMID:12879013 20091208 RGD mRNA, protein:increased expression:ovary 1596738 Letmd1 LETM1 domain containing 1 gene DOID:4451 renal carcinoma ISO RGD:1344708 D RGD:2314918|PMID:12879013 20091208 RGD mRNA, protein:increased expression:kidney 1596738 Letmd1 LETM1 domain containing 1 gene DOID:5517 stomach carcinoma ISO RGD:1344708 D RGD:2314918|PMID:12879013 20091208 RGD mRNA, protein:increased expression:stomach 1596738 Letmd1 LETM1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1344708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596746 Spink9 serine peptidase inhibitor, Kazal type 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1596746 Spink9 serine peptidase inhibitor, Kazal type 9 gene DOID:630 genetic disease ISO RGD:1603723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596746 Spink9 serine peptidase inhibitor, Kazal type 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603723 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596746 Spink9 serine peptidase inhibitor, Kazal type 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1596753 Acot4 acyl-CoA thioesterase 4 gene DOID:1059 intellectual disability ISO RGD:1605006 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 1596753 Acot4 acyl-CoA thioesterase 4 gene DOID:630 genetic disease ISO RGD:1605006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596771 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1602972 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 1596771 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1602972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596771 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:9005930 Endotoxemia ISO RGD:1316595 D RGD:39939032|PMID:24930766 20201021 RGD 1596771 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602972 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 1596774 Tpbgl trophoblast glycoprotein-like gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:6770651 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 1596774 Tpbgl trophoblast glycoprotein-like gene DOID:1059 intellectual disability ISO RGD:6770651 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596774 Tpbgl trophoblast glycoprotein-like gene DOID:630 genetic disease ISO RGD:6770651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596780 Thbs3 thrombospondin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1596780 Thbs3 thrombospondin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1596780 Thbs3 thrombospondin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1596780 Thbs3 thrombospondin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1596780 Thbs3 thrombospondin 3 gene DOID:10283 prostate cancer ISO RGD:1314326 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1596780 Thbs3 thrombospondin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314326 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596780 Thbs3 thrombospondin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1596780 Thbs3 thrombospondin 3 gene DOID:630 genetic disease ISO RGD:1314326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596780 Thbs3 thrombospondin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314326 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:0080600 COVID-19 ISO RGD:1352198 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:1059 intellectual disability ISO RGD:1352198 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352198 D RGD:151356931|PMID:32945371 20220217 RGD protein:decreased expression:lung (human) 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:5419 schizophrenia ISO RGD:1352198 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:630 genetic disease ISO RGD:1352198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1352198 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:7240710 20190315 OMIM 1596799 Ncaph non-SMC condensin I complex, subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive PMID:25741868|PMID:27737959 1596808 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 1596808 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347873 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 1596808 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 1596808 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:630 genetic disease ISO RGD:1347873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596808 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 1596808 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9870 galactosemia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 1596811 Dynap dynactin associated protein gene DOID:1059 intellectual disability ISO RGD:1344523 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596811 Dynap dynactin associated protein gene DOID:630 genetic disease ISO RGD:1344523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596812 Asb14 ankyrin repeat and SOCS box-containing 14 gene DOID:0060857 septooptic dysplasia ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 1596812 Asb14 ankyrin repeat and SOCS box-containing 14 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:28492532 1596812 Asb14 ankyrin repeat and SOCS box-containing 14 gene DOID:630 genetic disease ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1596812 Asb14 ankyrin repeat and SOCS box-containing 14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 1596817 Krtap3-1 keratin associated protein 3-1 gene DOID:630 genetic disease ISO RGD:1314968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596822 Lemd3 LEM domain containing 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1343559 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 1596822 Lemd3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:11553840|PMID:19438932 20161014 RGD DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human) 1596822 Lemd3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:11553843|PMID:21985280 20161014 RGD DNA:transversion mutation:intron: c.1921+1G>T(human) 1596822 Lemd3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:11553844|PMID:20678097 20161014 RGD DNA:nonsense mutation:cds:c.2203C>T(human) 1596822 Lemd3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:7240710 20130221 OMIM 1596822 Lemd3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:1343559 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS PMID:12749062|PMID:15489854|PMID:16470551|PMID:17087626|PMID:17223882|PMID:19438932|PMID:25741868|PMID:27382493|PMID:28434888|PMID:28492532|PMID:9295073 1596822 Lemd3 LEM domain containing 3 gene DOID:0111536 Buschke-Ollendorff syndrome no_association ISO RGD:1343559 D RGD:11553842|PMID:20083694 20161014 RGD 1596822 Lemd3 LEM domain containing 3 gene DOID:11991 Osteopoikilosis ISO RGD:1343559 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Osteopoikilosis PMID:15489854 1596822 Lemd3 LEM domain containing 3 gene DOID:630 genetic disease ISO RGD:1343559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1596822 Lemd3 LEM domain containing 3 gene DOID:9005750 Melorheostosis with Osteopoikilosis ISO RGD:1343559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis PMID:12749062|PMID:15489854|PMID:16470551|PMID:17087626|PMID:19438932|PMID:28492532|PMID:9295073 1596822 Lemd3 LEM domain containing 3 gene DOID:9006066 Familial Cutaneous Collagenoma ISO RGD:1343559 D RGD:11553841|PMID:17223882 20161014 RGD DNA:transition mutation:intron: 1522+1G>A(human) 1596828 Krtap3-2 keratin associated protein 3-2 gene DOID:630 genetic disease ISO RGD:1346288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596837 Tbpl2 TATA box binding protein-like 2 gene DOID:630 genetic disease ISO RGD:1342829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596842 LOC680045 hypothetical protein LOC680045 gene DOID:0060852 Pierson syndrome ISO RGD:7254257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1596842 LOC680045 hypothetical protein LOC680045 gene DOID:630 genetic disease ISO RGD:7254257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596842 LOC680045 hypothetical protein LOC680045 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:7254257 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1596848 LOC680039 hypothetical protein LOC680039 gene DOID:630 genetic disease ISO RGD:1602497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596851 Msrb3 methionine sulfoxide reductase B3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351511 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:19650862|PMID:21185009|PMID:30303587 1596851 Msrb3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:7240710 20130731 OMIM 1596851 Msrb3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 74 PMID:19650862|PMID:21185009|PMID:25741868|PMID:30303587 1596851 Msrb3 methionine sulfoxide reductase B3 gene DOID:630 genetic disease ISO RGD:1351511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 1596851 Msrb3 methionine sulfoxide reductase B3 gene DOID:9004538 Hearing Loss ISO RGD:1351511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21782914 1596851 Msrb3 methionine sulfoxide reductase B3 gene DOID:9004538 Hearing Loss ISO RGD:1351511 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:24033266 1596868 Trim38 tripartite motif containing 38 gene DOID:630 genetic disease ISO RGD:1349740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596869 Iho1 interactor of HORMAD1 1 gene DOID:0060852 Pierson syndrome ISO RGD:1605539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 1596869 Iho1 interactor of HORMAD1 1 gene DOID:630 genetic disease ISO RGD:1605539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596869 Iho1 interactor of HORMAD1 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605539 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 1596873 Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 1596873 Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1353486 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1596873 Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:0060058 lymphoma ISO RGD:1312218 D RGD:9068941 20230413 RGD PMID:11423979|REF_RGD_ID:1599865 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1312218 D RGD:7240710 20180418 OMIM 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:630 genetic disease ISO RGD:1312218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1312218 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11423979 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1312218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312218 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9006369 Mosaic Variegated Aneuploidy Syndrome 7 ISO RGD:1312218 D RGD:7240710 20230125 OMIM 1596881 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0050746 mantle cell lymphoma ISO RGD:1349908 D RGD:11535021|PMID:16620968 20161014 RGD protein:increased expression:mononuclear cell (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0050902 medulloblastoma ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349908 D RGD:11535028|PMID:24763007 20160919 RGD mRNA:increased expression:bone marrow, blood (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1349908 D RGD:11535037|PMID:18815192 20160919 RGD mRNA:increased expression:bone marrow (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1349908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1115 sarcoma ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:11198 DiGeorge syndrome ISO RGD:1349908 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1240 leukemia ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1612 breast cancer ISO RGD:1349908 D RGD:11535056|PMID:17624586 20160920 RGD mRNA:increased expression:breast (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:11535038|PMID:27505074 20160919 RGD mRNA:increased expression:skin of body (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:11535062|PMID:9047241 20160920 RGD mRNA:increased expression:skin of body (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3347 osteosarcoma severity ISO RGD:1349908 D RGD:11535057|PMID:22390931 20160920 RGD mRNA:increased expression:muscle tissue (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3713 ovary adenocarcinoma severity ISO RGD:1349908 D RGD:11535054|PMID:18709641 20160920 RGD mRNA, protein:increased expression:female gonad (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3910 lung adenocarcinoma ISO RGD:1349908 D RGD:11535020|PMID:27241212 20160919 RGD mRNA:decreased expression:lung (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:4450 renal cell carcinoma ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:6039 uveal melanoma severity ISO RGD:1349908 D RGD:11535039|PMID:27486988 20160919 RGD mRNA:increased expression:uvea (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:630 genetic disease ISO RGD:1349908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:769 neuroblastoma severity ISO RGD:1349908 D RGD:11535044|PMID:15240516 20160920 RGD mRNA:increased expression:neural tissue (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8552 chronic myeloid leukemia ISO RGD:1349908 D RGD:11535035|PMID:20838376 20160919 RGD mRNA:increased expression:mononuclear cell (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8552 chronic myeloid leukemia ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1349908 D RGD:11060455|PMID:26044287 20160920 RGD mRNA:increased expression:lymphoid tissue (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8692 myeloid leukemia severity ISO RGD:1349908 D RGD:11535036|PMID:16103086 20160919 RGD human cell line in a mouse model 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1349908 D RGD:11535064|PMID:15180862 20160920 RGD associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349908 D RGD:11535021|PMID:16620968 20160919 RGD protein:increased expression:mononuclear cell (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1349908 D RGD:11535023|PMID:20376794 20160919 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1349908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9538 multiple myeloma severity ISO RGD:1349908 D RGD:11535030|PMID:24791872 20160919 RGD associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) 1596887 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1349908 D RGD:11535025|PMID:27275197 20160919 RGD mRNA:increased expression:blood (human) 1596912 Casd1 CAS1 domain containing 1 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19117362|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 1596912 Casd1 CAS1 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1603612 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1596912 Casd1 CAS1 domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603612 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1596912 Casd1 CAS1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 1596915 Atg4a autophagy related 4A, cysteine peptidase gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1604759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 1596915 Atg4a autophagy related 4A, cysteine peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604759 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1596915 Atg4a autophagy related 4A, cysteine peptidase gene DOID:0110034 X-linked Alport syndrome ISO RGD:1604759 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 1596915 Atg4a autophagy related 4A, cysteine peptidase gene DOID:12849 autistic disorder ISO RGD:1604759 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596915 Atg4a autophagy related 4A, cysteine peptidase gene DOID:630 genetic disease ISO RGD:1604759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596918 Rhou ras homolog family member U gene DOID:1540 parathyroid carcinoma ISO RGD:1347334 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1596918 Rhou ras homolog family member U gene DOID:630 genetic disease ISO RGD:1347334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596918 Rhou ras homolog family member U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347334 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1596935 Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602812 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1596935 Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 gene DOID:10283 prostate cancer ISO RGD:1602812 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1596935 Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 gene DOID:12849 autistic disorder ISO RGD:1602812 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596935 Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 gene DOID:630 genetic disease ISO RGD:1602812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596943 Zc3h4 zinc finger CCCH-type containing 4 gene DOID:630 genetic disease ISO RGD:1316321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596943 Zc3h4 zinc finger CCCH-type containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316321 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344785 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa IAGP D RGD:26884353|PMID:28283841 20200508 RGD DNA:mutations:multiple 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa IAGP D RGD:26884354|PMID:8733134 20200508 RGD DNA:missense mutations:multiple 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa IAGP D RGD:26884355|PMID:28627441 20200508 RGD DNA:mutations:multiple 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1344785 D RGD:7240710 20130221 OMIM 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1344785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I PMID:10330341|PMID:11286390|PMID:12862311|PMID:16199547|PMID:17304053|PMID:17576681|PMID:17689125|PMID:18076117|PMID:19763152|PMID:20307669|PMID:21634085|PMID:21646031|PMID:21857251|PMID:21911307|PMID:22406018|PMID:22899091|PMID:2303074|PMID:23578772|PMID:24055370|PMID:25070466|PMID:25266922|PMID:25315662|PMID:25741868|PMID:25741869|PMID:26157701|PMID:26944031|PMID:27103379|PMID:28085675|PMID:28283841|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28627441|PMID:30659246|PMID:30945684|PMID:31248825|PMID:31508908|PMID:31987065|PMID:32244026|PMID:32387637|PMID:34117828|PMID:34277355|PMID:5306139|PMID:7711737|PMID:7847371|PMID:7959740|PMID:8733133|PMID:8733134|PMID:9536098|PMID:9600238|PMID:9835437|PMID:9870210 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344785 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7711737 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:1601388|PMID:7711737 20070418 RGD glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2751 glycogen storage disease VIII ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330341|PMID:12862311|PMID:17576681|PMID:17689125|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28283841|PMID:28492532|PMID:28627441|PMID:31508908|PMID:34117828|PMID:9536098 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1344785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 1596945 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344785 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1596958 Fbxl18 F-box and leucine-rich repeat protein 18 gene DOID:630 genetic disease ISO RGD:1352891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1596958 Fbxl18 F-box and leucine-rich repeat protein 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1352891 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:1314451 D RGD:13592920 20210401 MouseDO 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:0080653 urolithiasis ISO RGD:12187213 D RGD:9068941 20220630 OMIA Urolithiasis PMID:15501150 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:13189 gout ISO RGD:1351405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18327256|PMID:18327257 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1351405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18989453 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:5419 schizophrenia ISO RGD:1351405 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:630 genetic disease ISO RGD:1351405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:9007605 Renal Hypouricemia ISO RGD:1351405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18989453|PMID:22132990 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:9007605 Renal Hypouricemia ISO RGD:1351405 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:7240710 20130221 OMIM 1597012 Slc2a9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 2 PMID:18327256|PMID:18327257|PMID:18701466|PMID:19026395|PMID:19189137|PMID:19926891|PMID:21256783|PMID:21536615|PMID:21810765|PMID:22132964|PMID:24397858|PMID:24628802|PMID:24940677|PMID:25741868|PMID:25966807|PMID:26500098|PMID:27116386|PMID:28492532|PMID:29967582 1597035 Gemin7 gem (nuclear organelle) associated protein 7 gene DOID:630 genetic disease ISO RGD:1354242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597047 Pitpnc1 phosphatidylinositol transfer protein, cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1312467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597063 Tsbp1 testis expressed basic protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1346663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1597086 Pnn pinin, desmosome associated protein gene DOID:630 genetic disease ISO RGD:1313105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597086 Pnn pinin, desmosome associated protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1597087 Inmt indolethylamine N-methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316407 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 1597087 Inmt indolethylamine N-methyltransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1316407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 1597087 Inmt indolethylamine N-methyltransferase gene DOID:10283 prostate cancer ISO RGD:1316407 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 1597087 Inmt indolethylamine N-methyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316407 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1597087 Inmt indolethylamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1316407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597087 Inmt indolethylamine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1316407 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1597087 Inmt indolethylamine N-methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1597088 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1316285 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868 1597088 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316285 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 1597088 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316285 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1597088 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:630 genetic disease ISO RGD:1316285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597088 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1316285 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:25741868 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1314248 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:10923 sickle cell anemia ISO RGD:1314248 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:12849 autistic disorder ISO RGD:1314248 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1314248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16448863 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1314248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314248 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:5419 schizophrenia ISO RGD:1314248 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:630 genetic disease ISO RGD:1314248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:8445 intestinal volvulus ISO RGD:1314248 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314248 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1597089 Baz1b bromodomain adjacent to zinc finger domain, 1B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314248 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:0060041 autism spectrum disorder ISO RGD:1349003 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:10923 sickle cell anemia ISO RGD:1349003 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:12849 autistic disorder ISO RGD:1349003 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349003 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:5419 schizophrenia ISO RGD:1349003 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:630 genetic disease ISO RGD:1349003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:8445 intestinal volvulus ISO RGD:1349003 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349003 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1597090 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349003 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 1597136 Zfp870 zinc finger protein 870 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 1597136 Zfp870 zinc finger protein 870 gene DOID:13938 amenorrhea ISO RGD:1603930 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1597136 Zfp870 zinc finger protein 870 gene DOID:1540 parathyroid carcinoma ISO RGD:1603930 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1597136 Zfp870 zinc finger protein 870 gene DOID:630 genetic disease ISO RGD:1603930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597136 Zfp870 zinc finger protein 870 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603930 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1597138 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:1603263 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27014569|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29519241|PMID:30029694|PMID:30626930|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 1597138 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1597138 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:630 genetic disease ISO RGD:1603263 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 1597138 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1603263 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371 1597138 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:1603263 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency type 1 PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050575 D-2-hydroxyglutaric aciduria treatment ISO RGD:1557355 D RGD:13506812|PMID:27469509 20180220 RGD DNA:mutation:cds:p.R140Q(mouse) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080005 bone remodeling disease ISS RGD:1557355 D RGD:13592920 20220609 MouseDO 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:1557355 D RGD:14985251|PMID:29861476 20191015 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver susceptibility ISO RGD:1557355 D RGD:14985252|PMID:31064654 20191015 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:1557355 D RGD:14985253|PMID:28415887 20210727 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:7240710 20190918 OMIM 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:30975432|PMID:34641967|PMID:9536098 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:decreased expression:stomach (human) PMID:27466503|REF_RGD_ID:149735569 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313391 D RGD:149735841|PMID:25098926 20210727 RGD protein:decreased expression:stomach (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1074 kidney failure ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11111 hydronephrosis ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11476 osteoporosis ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1324 lung cancer ISO RGD:1313391 D RGD:149735564|PMID:30128035 20210722 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1824 status epilepticus IDA D RGD:14985255|PMID:29778462 20191015 RGD protein:increased acetylation:hippocampus 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:255 hemangioma ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2602 chondroma ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2717 Bloom syndrome ISO RGD:1313391 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3070 high grade glioma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3181 oligodendroglioma ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20160062 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3307 teratoma ISO RGD:1313391 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:331 central nervous system disease ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1313391 D RGD:149735568|PMID:32367071 20210722 RGD human cells in mouse model 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1313391 D RGD:149735564|PMID:30128035 20210722 RGD protein:increased expression:lung (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1313391 D RGD:149735567|PMID:29465809 20210722 RGD protein:increased expression:blood serum (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1313391 D RGD:149735566|PMID:27649069 20210722 RGD DNA:SNP:CD: (rs11540478) C>T (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313391 D RGD:150340558|PMID:25576295 20210814 RGD DNA:SNP: (rs11540478) (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1313391 D RGD:149735564|PMID:30128035 20210722 RGD protein:increased expression:lung (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313391 D RGD:149735567|PMID:29465809 20210722 RGD protein:increased expression:blood serum (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:22057236 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:18414213|PMID:25741868|PMID:28492532 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1557355 D RGD:149735894|PMID:32463951 20210727 RGD mRNA:decreased expression:liver (mouse) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1313391 D RGD:14985256|PMID:22824796 20191015 RGD DNA:mutations: : 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1313391 D RGD:14974228|PMID:25355558 20190919 RGD DNA:polymorphism: :rs11632348(human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:630 genetic disease ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:6536 plasma cell neoplasm ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313391 D RGD:14985249|PMID:24716838 20191015 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:8398 osteoarthritis ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1557355 D RGD:14985248|PMID:28938192 20191015 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003571 Paraproteinemias ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003936 Cardiomegaly ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1313391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006205 Animal Disease Models ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006257 Growth Disorders ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1557355 D RGD:14985252|PMID:31064654 20191015 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1557355 D RGD:14985250|PMID:31121248 20191015 RGD 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313391 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:25324972|PMID:27992414 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:11522718|PMID:20368543 20160804 RGD DNA:mutation:cds:p.R172(human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:11522721|PMID:25324972 20160804 RGD DNA:mutation:cds:p.R140 (human) 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9256 colorectal cancer ISO RGD:1313391 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9408 acute myocardial infarction ISO RGD:1313391 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myocardial infarction PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 1597139 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9538 multiple myeloma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:7175555|PMID:19878917 20121212 RGD DNA:mutations:exon, intron:multiple (human) 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:7183084|PMID:19896109 20121212 RGD DNA:deletion, missense mutations:cds:multiple (human) 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:7183085|PMID:19896113 20121213 RGD DNA:mutations:multiple (human) 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:17576681|PMID:19878917|PMID:19896113|PMID:19966281|PMID:20300565|PMID:25741868|PMID:27803854|PMID:28041643|PMID:28492532|PMID:29074561|PMID:9536098 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1312607 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:7240710 20130221 OMIM 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:16199547|PMID:19436059|PMID:19878917|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:22277662|PMID:25307992|PMID:25741868|PMID:25999674|PMID:26493165|PMID:26872967|PMID:27803854|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29522070|PMID:30718709 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312607 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:1059 intellectual disability ISO RGD:1312607 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:12849 autistic disorder ISO RGD:1312607 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:3070 high grade glioma ISO RGD:1312607 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:5419 schizophrenia ISO RGD:1312607 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:630 genetic disease ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:8501 fundus dystrophy ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:23714322|PMID:28492532|PMID:28559085|PMID:29522070 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312607 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1312607 D RGD:7175561|PMID:21439949 20121212 RGD DNA:SNP:intron:g.59080C>T (rs11070811) (human) 1597140 Trpm1 transient receptor potential cation channel, subfamily M, member 1 gene DOID:9256 colorectal cancer ISO RGD:1312607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 1597145 Glb1 galactosidase, beta 1 gene DOID:0050952 spastic ataxia ISO RGD:1347574 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10841810|PMID:15714521|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:8922281 1597145 Glb1 galactosidase, beta 1 gene DOID:0080006 bone development disease ISO RGD:1347574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7586649 1597145 Glb1 galactosidase, beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:7240710 20190227 OMIM 1597145 Glb1 galactosidase, beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:15714521|PMID:15906092|PMID:15986423|PMID:16617000|PMID:16626397|PMID:16941474|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:23337983|PMID:23430499|PMID:24156116|PMID:25326637|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26646981|PMID:28492532|PMID:28554332|PMID:28716012|PMID:29160035|PMID:29439846|PMID:30267299|PMID:31761138|PMID:31776384|PMID:6791574|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 1597145 Glb1 galactosidase, beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 1597145 Glb1 galactosidase, beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17661814|PMID:17664528|PMID:18524657|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24767253|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:27750150|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30267299|PMID:30442161|PMID:30548430|PMID:30675867|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33737400|PMID:34426522|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 1597145 Glb1 galactosidase, beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 1597145 Glb1 galactosidase, beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 1597145 Glb1 galactosidase, beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20301601|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 1597145 Glb1 galactosidase, beta 1 gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1347574 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 1597145 Glb1 galactosidase, beta 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:10338095|PMID:11727201|PMID:12673792|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:20301601|PMID:21637542|PMID:24156116|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 1597145 Glb1 galactosidase, beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:7240710 20191030 OMIM 1597145 Glb1 galactosidase, beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15791924|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17661814|PMID:17664528|PMID:18353697|PMID:18524657|PMID:18546276|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:19763152|PMID:20175788|PMID:20301601|PMID:20307669|PMID:20409738|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22406018|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29352662|PMID:29396849|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30187681|PMID:30267299|PMID:30408610|PMID:30442161|PMID:30548430|PMID:30555092|PMID:30675867|PMID:30703229|PMID:30809705|PMID:31367523|PMID:31497487|PMID:31761138|PMID:31776384|PMID:31905715|PMID:32005694|PMID:32219518|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33673364|PMID:33737400|PMID:34426522|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 1597145 Glb1 galactosidase, beta 1 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:10841810|PMID:19472408|PMID:21497194|PMID:23831247|PMID:25741868|PMID:26646981|PMID:28492532|PMID:8922281 1597145 Glb1 galactosidase, beta 1 gene DOID:1059 intellectual disability ISO RGD:1347574 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1597145 Glb1 galactosidase, beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1928092|PMID:7586649 1597145 Glb1 galactosidase, beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:12910454|PMID:19091613 20170614 RGD DNA:mutation:998 A > G (p.Y333C)(human) 1597145 Glb1 galactosidase, beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:1598984|PMID:11511921 20070109 RGD Morquio disease type B 1597145 Glb1 galactosidase, beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:8554872 20150714 ClinVar ClinVar Annotator: match by term: Morquio syndrome 1597145 Glb1 galactosidase, beta 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1347574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:817853 1597145 Glb1 galactosidase, beta 1 gene DOID:2773 contact dermatitis ISO RGD:1347574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 1597145 Glb1 galactosidase, beta 1 gene DOID:3070 high grade glioma ISO RGD:1347574 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 1597145 Glb1 galactosidase, beta 1 gene DOID:3310 atopic dermatitis ISO RGD:1347574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 1597145 Glb1 galactosidase, beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism 1597145 Glb1 galactosidase, beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:12910453|PMID:17309651 20170614 RGD DNA:mutations:multiple: 1597145 Glb1 galactosidase, beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:1598983|PMID:10737981 20070109 RGD 1597145 Glb1 galactosidase, beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:11727201|PMID:12393180|PMID:12644936|PMID:12673792|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:20175788|PMID:20301601|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29396849|PMID:29439846|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30555092|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:33083013|PMID:33240792|PMID:33737400|PMID:34426522|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 1597145 Glb1 galactosidase, beta 1 gene DOID:3322 GM1 gangliosidosis treatment ISO RGD:10651 D RGD:11086251|PMID:25964428 20170614 RGD 1597145 Glb1 galactosidase, beta 1 gene DOID:5419 schizophrenia ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 1597145 Glb1 galactosidase, beta 1 gene DOID:630 genetic disease ISO RGD:1347574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338095|PMID:11511921|PMID:15714521|PMID:15986423|PMID:17309651|PMID:17661814|PMID:19472408|PMID:20175788|PMID:21497194|PMID:21520340|PMID:22128166|PMID:23337983|PMID:25326637|PMID:25557439|PMID:25741868|PMID:28476546|PMID:28492532|PMID:28554332|PMID:29352662|PMID:30267299|PMID:30442161|PMID:31367523|PMID:31761138|PMID:33240792|PMID:33737400|PMID:6791574|PMID:8198123|PMID:8213816|PMID:8652017 1597145 Glb1 galactosidase, beta 1 gene DOID:9008606 Corneal Opacity ISO RGD:1347574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:817853 1597145 Glb1 galactosidase, beta 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:8953752 D RGD:9068941 20200609 RGD PMID:2837976|REF_RGD_ID:11557999 1597152 Zc3h12d zinc finger CCCH type containing 12D gene DOID:630 genetic disease ISO RGD:1345806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597152 Zc3h12d zinc finger CCCH type containing 12D gene DOID:684 hepatocellular carcinoma ISO RGD:1345806 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34545456 1597170 Vps26b VPS26 retromer complex component B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603929 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 1597170 Vps26b VPS26 retromer complex component B gene DOID:5419 schizophrenia ISO RGD:1603929 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597170 Vps26b VPS26 retromer complex component B gene DOID:630 genetic disease ISO RGD:1603929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597170 Vps26b VPS26 retromer complex component B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603929 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1597170 Vps26b VPS26 retromer complex component B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 1597171 Plppr2 phospholipid phosphatase related 2 gene DOID:630 genetic disease ISO RGD:1604322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597189 Pnp purine nucleoside phosphorylase gene DOID:0080600 COVID-19 ISO RGD:1349909 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1597189 Pnp purine nucleoside phosphorylase gene DOID:11476 osteoporosis ISO RGD:1349909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 1597189 Pnp purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9403342 1597189 Pnp purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:7240710 20130221 OMIM 1597189 Pnp purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:11453975|PMID:12483996|PMID:1384322|PMID:15571269|PMID:1560016|PMID:16199547|PMID:17407325|PMID:17576681|PMID:19759001|PMID:22132981|PMID:22578971|PMID:22669887|PMID:24033266|PMID:24767876|PMID:25741868|PMID:28492532|PMID:3029074|PMID:30778343|PMID:31130284|PMID:32514656|PMID:32695102|PMID:8931706|PMID:9067751|PMID:9536098|PMID:9737781 1597189 Pnp purine nucleoside phosphorylase gene DOID:627 severe combined immunodeficiency ISO RGD:1349909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1384322|PMID:22132981|PMID:25741868|PMID:28492532|PMID:9067751 1597189 Pnp purine nucleoside phosphorylase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1349909 D RGD:1600263|PMID:3029074 20070306 RGD nucleoside phosphorylase deficiency, OMIM:164050 1597189 Pnp purine nucleoside phosphorylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 1597189 Pnp purine nucleoside phosphorylase gene DOID:9007964 Arsenic Poisoning ISO RGD:1349909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18414634 1597195 Wnt1 Wnt family member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:30715774|PMID:32770541 1597195 Wnt1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1344355 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 1597195 Wnt1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:22653731|PMID:23434763|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:28492532|PMID:28528193|PMID:29481978|PMID:29499418|PMID:29620724|PMID:30896082|PMID:30913006 1597195 Wnt1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 susceptibility ISO RGD:1344355 D RGD:7240710 20230505 OMIM 1597195 Wnt1 Wnt family member 1 gene DOID:10126 keratoconus ISO RGD:1344355 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23434763 1597195 Wnt1 Wnt family member 1 gene DOID:11476 osteoporosis ISO RGD:1344355 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1597195 Wnt1 Wnt family member 1 gene DOID:11476 osteoporosis ISO RGD:1344355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis PMID:23499309|PMID:23656646|PMID:25741868 1597195 Wnt1 Wnt family member 1 gene DOID:11476 osteoporosis susceptibility ISO RGD:1344355 D RGD:7240710 20230505 OMIM 1597195 Wnt1 Wnt family member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:23434763|PMID:23499309|PMID:23499310|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28725987|PMID:29499418|PMID:30715774|PMID:30896082|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 1597195 Wnt1 Wnt family member 1 gene DOID:1612 breast cancer ISS RGD:11491 D RGD:13592920 20180518 MouseDO OMIM:114480 1597195 Wnt1 Wnt family member 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11491 D RGD:242905195|PMID:35854140 20230328 RGD 1597195 Wnt1 Wnt family member 1 gene DOID:630 genetic disease ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22653731|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28528193|PMID:28725987|PMID:29620724|PMID:30715774|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 1597195 Wnt1 Wnt family member 1 gene DOID:65 connective tissue disease ISO RGD:1344355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 1597195 Wnt1 Wnt family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11491 D RGD:2298804|PMID:10918574 20080725 RGD 1597195 Wnt1 Wnt family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11491 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1597195 Wnt1 Wnt family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11491 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 1597206 Eid3 EP300 interacting inhibitor of differentiation 3 gene DOID:630 genetic disease ISO RGD:1603793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597216 Tmem121 transmembrane protein 121 gene DOID:2661 myoepithelioma ISO RGD:1606775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 1597216 Tmem121 transmembrane protein 121 gene DOID:630 genetic disease ISO RGD:1606775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597237 Crip1 cysteine rich protein 1 gene DOID:630 genetic disease ISO RGD:1348993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597257 Tex22 testis expressed 22 gene DOID:630 genetic disease ISO RGD:5132216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:7240710 20190315 OMIM 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1604046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:1826 epilepsy ISO RGD:1604046 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 1597262 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:630 genetic disease ISO RGD:1604046 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:34782754 1597283 Zfp770 zinc finger protein 770 gene DOID:2717 Bloom syndrome ISO RGD:1606270 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 1597283 Zfp770 zinc finger protein 770 gene DOID:630 genetic disease ISO RGD:1606270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597283 Zfp770 zinc finger protein 770 gene DOID:9256 colorectal cancer ISO RGD:1606270 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 1597300 Tex12 testis expressed 12 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:19830588|PMID:20059486|PMID:25741868|PMID:28492532|PMID:31332730|PMID:32651154|PMID:33234470|PMID:33822819|PMID:7563095 1597300 Tex12 testis expressed 12 gene DOID:1059 intellectual disability ISO RGD:1351277 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1597300 Tex12 testis expressed 12 gene DOID:630 genetic disease ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597300 Tex12 testis expressed 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351277 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1597300 Tex12 testis expressed 12 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1351277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 1597305 Pla2g2f phospholipase A2, group IIF gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1597305 Pla2g2f phospholipase A2, group IIF gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322150 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1597305 Pla2g2f phospholipase A2, group IIF gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1597305 Pla2g2f phospholipase A2, group IIF gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1597305 Pla2g2f phospholipase A2, group IIF gene DOID:630 genetic disease ISO RGD:1322150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597305 Pla2g2f phospholipase A2, group IIF gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1597317 Trim47 tripartite motif-containing 47 gene DOID:630 genetic disease ISO RGD:1322764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597317 Trim47 tripartite motif-containing 47 gene DOID:9002170 Experimental Neoplasms ISO RGD:1322764 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 1597317 Trim47 tripartite motif-containing 47 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322764 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 1597317 Trim47 tripartite motif-containing 47 gene DOID:9008939 Breast Neoplasms ISO RGD:1322764 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 1597322 Tmem253 transmembrane protein 253 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1626192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 1597322 Tmem253 transmembrane protein 253 gene DOID:630 genetic disease ISO RGD:1626192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597322 Tmem253 transmembrane protein 253 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1626192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 1597323 Btbd6 BTB domain containing 6 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1597323 Btbd6 BTB domain containing 6 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1597323 Btbd6 BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1352605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1319967 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1319967 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1319967 D RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect ISO RGD:1319967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17409324|PMID:19319979 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:1319967 D RGD:7240710 20230517 OMIM 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080690 RASopathy ISO RGD:1319967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome susceptibility ISO RGD:1319967 D RGD:7240710 20230517 OMIM 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:10126 keratoconus ISO RGD:1319967 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:11836 clubfoot ISO RGD:1319967 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1319967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597324 Vangl1 VANGL planar cell polarity protein 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1319967 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 1597330 Prdm11 PR/SET domain 11 gene DOID:1059 intellectual disability ISO RGD:1343614 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1597336 C14h2orf74 similar to human chromosome 2 open reading frame 74 gene DOID:0050545 visceral heterotaxy ISS RGD:1615887 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 1597336 C14h2orf74 similar to human chromosome 2 open reading frame 74 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2298736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 1597339 C1h11orf98 similar to human chromosome 11 open reading frame 98 gene DOID:630 genetic disease ISO RGD:9587562 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597343 Srp9 signal recognition particle 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1348001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1597343 Srp9 signal recognition particle 9 gene DOID:630 genetic disease ISO RGD:1348001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597343 Srp9 signal recognition particle 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348001 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:2298819 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:7240710 20170510 OMIM 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 PMID:25008109|PMID:25741868|PMID:28492532 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2298819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:1059 intellectual disability ISO RGD:2298819 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1597344 Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:2298819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597345 Zfp141 zinc finger protein 141 gene DOID:630 genetic disease ISO RGD:1604241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597345 Zfp141 zinc finger protein 141 gene DOID:8893 psoriasis ISO RGD:1604241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:24212883 1597354 Tas2r130 taste receptor, type 2, member 130 gene DOID:630 genetic disease ISO RGD:1347137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597355 Sertm1 serine-rich and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1601910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597359 Lrrn4cl LRRN4 C-terminal like gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 1597359 Lrrn4cl LRRN4 C-terminal like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 1597359 Lrrn4cl LRRN4 C-terminal like gene DOID:1059 intellectual disability ISO RGD:1603349 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1597359 Lrrn4cl LRRN4 C-terminal like gene DOID:630 genetic disease ISO RGD:1603349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597373 Derl3 derlin 3 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1353725 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 1597373 Derl3 derlin 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1353725 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 1597373 Derl3 derlin 3 gene DOID:1826 epilepsy ISO RGD:1353725 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1597373 Derl3 derlin 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1353725 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:28492532 1597373 Derl3 derlin 3 gene DOID:5419 schizophrenia ISO RGD:1353725 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597373 Derl3 derlin 3 gene DOID:630 genetic disease ISO RGD:1353725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1602635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29410950|PMID:32214227|PMID:9536098 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:7240710 20141216 OMIM 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:7240710 20180221 OMIM 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 PMID:16470708|PMID:17576681|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403|PMID:9536098 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:7240710 20180822 OMIM 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia fetal-onset | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 5 PMID:16470708|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0112328 pontocerebellar hypoplasia type 2 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2 PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:10376 amblyopia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:10907 microcephaly ISO RGD:1602635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:10907 microcephaly ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:480 movement disease ISO RGD:1602635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:630 genetic disease ISO RGD:1602635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950|PMID:9536098 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9000123 Deglutition Disorders ISO RGD:1602635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9000343 Vision Disorders ISO RGD:1602635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9006534 Nervous System Malformations ISO RGD:1602635 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 1597379 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9008086 Developmental Disabilities ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 1597384 Magohb mago homolog B, exon junction complex subunit gene DOID:5119 ovarian cyst ISO RGD:1602707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1597384 Magohb mago homolog B, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1602707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597393 Upk2 uroplakin 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597393 Upk2 uroplakin 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1597393 Upk2 uroplakin 2 gene DOID:0080690 RASopathy ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1597393 Upk2 uroplakin 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353269 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1597393 Upk2 uroplakin 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353269 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1597393 Upk2 uroplakin 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597393 Upk2 uroplakin 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597393 Upk2 uroplakin 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597393 Upk2 uroplakin 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597393 Upk2 uroplakin 2 gene DOID:630 genetic disease ISO RGD:1353269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597393 Upk2 uroplakin 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353269 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1597393 Upk2 uroplakin 2 gene DOID:9007661 Dwarfism ISO RGD:1353269 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1597396 Khdc1 KH domain containing 1 gene DOID:3659 sialuria ISO RGD:1348536 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 1597396 Khdc1 KH domain containing 1 gene DOID:630 genetic disease ISO RGD:1348536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597398 Ldlrad1 low density lipoprotein receptor class A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597407 Arl15 ADP-ribosylation factor like GTPase 15 gene DOID:630 genetic disease ISO RGD:1323226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597407 Arl15 ADP-ribosylation factor like GTPase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323226 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1597409 Spaca7 sperm acrosome associated 7 gene DOID:2222 factor X deficiency ISO RGD:1606982 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 1597409 Spaca7 sperm acrosome associated 7 gene DOID:630 genetic disease ISO RGD:1606982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597412 Camsap3 calmodulin regulated spectrin-associated protein family, member 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1316325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1597412 Camsap3 calmodulin regulated spectrin-associated protein family, member 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1316325 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1597412 Camsap3 calmodulin regulated spectrin-associated protein family, member 3 gene DOID:630 genetic disease ISO RGD:1316325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597417 Parvg parvin, gamma gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322037 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 1597417 Parvg parvin, gamma gene DOID:1059 intellectual disability ISO RGD:1322037 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1597417 Parvg parvin, gamma gene DOID:630 genetic disease ISO RGD:1322037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597421 LOC689065 hypothetical protein LOC689065 gene DOID:1059 intellectual disability ISO RGD:2298933 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1597421 LOC689065 hypothetical protein LOC689065 gene DOID:630 genetic disease ISO RGD:2298933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597421 LOC689065 hypothetical protein LOC689065 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2298933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1597421 LOC689065 hypothetical protein LOC689065 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2298933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1597422 Hbb-bs hemoglobin, beta adult s chain gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5490977|PMID:20973890 20120321 RGD 1597431 Rad51ap1 RAD51 associated protein 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1353541 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 1597431 Rad51ap1 RAD51 associated protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 1597431 Rad51ap1 RAD51 associated protein 1 gene DOID:630 genetic disease ISO RGD:1353541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597431 Rad51ap1 RAD51 associated protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353541 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 1597432 Lin28b lin-28 homolog B gene DOID:14566 disease of cellular proliferation ISO RGD:1604919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 1597432 Lin28b lin-28 homolog B gene DOID:630 genetic disease ISO RGD:1604919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597432 Lin28b lin-28 homolog B gene DOID:769 neuroblastoma ISO RGD:1604919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941191|PMID:23042116 1597432 Lin28b lin-28 homolog B gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0080690 RASopathy ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0081330 glycogen storage disease Ib ISO RGD:1602413 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1602413 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:5419 schizophrenia ISO RGD:1602413 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:630 genetic disease ISO RGD:1602413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602413 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:9007661 Dwarfism ISO RGD:1602413 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 1597440 Cenatac centrosomal AT-AC splicing factor gene DOID:9007689 Mosaic Variegated Aneuploidy Syndrome 4 ISO RGD:1602413 D RGD:7240710 20221228 OMIM 1597443 Tafa4 TAFA chemokine like family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1345564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 1597447 LOC689039 hypothetical protein LOC689039 gene DOID:630 genetic disease ISO RGD:1603574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597448 Fam187b family with sequence similarity 187, member B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 1597448 Fam187b family with sequence similarity 187, member B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 1597448 Fam187b family with sequence similarity 187, member B gene DOID:543 dystonia ISO RGD:1603571 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 1597448 Fam187b family with sequence similarity 187, member B gene DOID:630 genetic disease ISO RGD:1603571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597451 Cyb5rl cytochrome b5 reductase-like gene DOID:630 genetic disease ISO RGD:2302325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597456 Tbpl1 TATA-box binding protein like 1 gene DOID:630 genetic disease ISO RGD:1315592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597457 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1318158 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24531328 1597457 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1318158 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 1597457 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:5844 myocardial infarction ISO RGD:1318158 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24633158 1597457 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1318158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597461 Mrps28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:7240710 20200812 OMIM 1597461 Mrps28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 PMID:30566640 1597461 Mrps28 mitochondrial ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:1313591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597461 Mrps28 mitochondrial ribosomal protein S28 gene DOID:9008939 Breast Neoplasms ISO RGD:1313591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 1597482 Clec4g C-type lectin domain family 4, member G gene DOID:0080490 mucolipidosis type IV ISO RGD:1354383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1597482 Clec4g C-type lectin domain family 4, member G gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354383 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 1597482 Clec4g C-type lectin domain family 4, member G gene DOID:630 genetic disease ISO RGD:1354383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597482 Clec4g C-type lectin domain family 4, member G gene DOID:684 hepatocellular carcinoma ISO RGD:1354383 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1597489 Tmem233 transmembrane protein 233 gene DOID:630 genetic disease ISO RGD:2923596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1346757 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1346757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 1597527 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 gene DOID:630 genetic disease ISO RGD:1346757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597535 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1597535 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1597535 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1605493 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1597535 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1597535 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1597535 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:630 genetic disease ISO RGD:1605493 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597546 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1597546 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 1597546 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1348051 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 1597546 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 1597546 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 1597546 Naif1 nuclear apoptosis inducing factor 1 gene DOID:630 genetic disease ISO RGD:1348051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597571 Gucd1 guanylyl cyclase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353154 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1597571 Gucd1 guanylyl cyclase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1353154 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597571 Gucd1 guanylyl cyclase domain containing 1 gene DOID:630 genetic disease ISO RGD:1353154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597571 Gucd1 guanylyl cyclase domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:1826 epilepsy ISO RGD:1345342 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:305 carcinoma ISO RGD:1345342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:5419 schizophrenia ISO RGD:1345342 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:630 genetic disease ISO RGD:1345342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9007429 Soft Tissue Neoplasms severity ISO RGD:1345342 D RGD:10766477|PMID:20165692 20160208 RGD mRNA, protein:increased expression:multiple (human) 1597573 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1345342 D RGD:10755704|PMID:17640359 20160203 RGD 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:0050941 spastic ataxia 2 ISO RGD:3051040 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:3051040 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9708546 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:3051040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:11960891|PMID:12417530|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:9158150|PMID:9606190|PMID:9708546 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:3051040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:16061559|PMID:16198106|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27717316|PMID:27779167|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30931400|PMID:31773638|PMID:31980526|PMID:32721234|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9708546 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:11030414|PMID:12417530|PMID:16087917|PMID:17576681|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:9158150|PMID:9536098|PMID:9708546 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:3635 congenital myasthenic syndrome ISO RGD:3051040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:12141316|PMID:12417530|PMID:12536367|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21940170|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27717316|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9708546 1597577 LOC687707 hypothetical protein LOC687707 gene DOID:630 genetic disease ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:11556209|PMID:12843316 20161027 RGD DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:7240710 20180425 OMIM 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:12393809|PMID:12395297|PMID:12789647|PMID:12843316|PMID:12868480|PMID:15342710|PMID:16086360|PMID:16199547|PMID:16402211|PMID:16411190|PMID:17576681|PMID:22382802|PMID:25741868|PMID:26571382|PMID:26791099|PMID:27661448|PMID:28166811|PMID:28492532|PMID:31502745|PMID:8025439|PMID:8287186|PMID:843249|PMID:9536098 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1619916 D RGD:155631313|PMID:16790473 20221101 RGD 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0080074 neural tube defect ISO RGD:1619916 D RGD:11556229|PMID:18818376 20161031 RGD 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:7240710 20130731 OMIM 1597672 Sall4 spalt-like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders PMID:17256792|PMID:25741868|PMID:28492532|PMID:7395922 1597672 Sall4 spalt-like transcription factor 4 gene DOID:10754 otitis media ISS RGD:1619916 D RGD:13592920 20180518 MouseDO OMIM:166760 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:11532205|PMID:26791099 20161031 RGD DNA:duplication:cds:c.410dupG (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:16402211|PMID:30067223 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:11556210|PMID:12393809 20161027 RGD DNA:snps, deletions, insertion:multiple (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:11556211|PMID:23687435 20161027 RGD DNA:frameshift mutation:cds:p.M640IfsX25 (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:11556231|PMID:16411190 20161031 RGD DNA:nonsense mutation:cds:p.R905X (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:11556232|PMID:12395297 20161031 RGD DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1619916 D RGD:11556215|PMID:17216607 20161027 RGD 1597672 Sall4 spalt-like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 1597672 Sall4 spalt-like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:11556206|PMID:19619907 20161027 RGD DNA:missense mutations:cds:p.R196W, p.S797C (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:1911 endodermal sinus tumor ISO RGD:1351271 D RGD:11557983|PMID:23347651 20161103 RGD protein:increased expression:testis, nucleus (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:2156 ovarian germ cell cancer ISO RGD:1351271 D RGD:11556233|PMID:19295406 20161031 RGD protein:increased expression:female gonad (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351271 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 1597672 Sall4 spalt-like transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1597672 Sall4 spalt-like transcription factor 4 gene DOID:687 hepatoblastoma ISO RGD:1351271 D RGD:11556217|PMID:23822878 20161027 RGD Embryonal Hepatoblastoma;protein:increased expression:liver (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1351271 D RGD:11556205|PMID:19390421 20161027 RGD protein:increased expression:testis (human) 1597672 Sall4 spalt-like transcription factor 4 gene DOID:9004994 Embryo Loss ISO RGD:1619916 D RGD:155631313|PMID:16790473 20221101 RGD 1597672 Sall4 spalt-like transcription factor 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1351271 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 1597672 Sall4 spalt-like transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16402211 1597703 Stx19 syntaxin 19 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1605776 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 1597703 Stx19 syntaxin 19 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 1597703 Stx19 syntaxin 19 gene DOID:2451 protein S deficiency ISO RGD:1605776 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 1597703 Stx19 syntaxin 19 gene DOID:630 genetic disease ISO RGD:1605776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:7240710 20190424 OMIM 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition PMID:23556151|PMID:25590979|PMID:25741868|PMID:27620904|PMID:30580808 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:10283 prostate cancer ISO RGD:1315563 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:1059 intellectual disability ISO RGD:1315563 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:630 genetic disease ISO RGD:1315563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30580808 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315563 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1597704 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:1315563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:25741868 1597709 Cnpy3 canopy FGF signaling regulator 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1597709 Cnpy3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:7240710 20190315 OMIM 1597709 Cnpy3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 PMID:25741868|PMID:29394991 1597709 Cnpy3 canopy FGF signaling regulator 3 gene DOID:630 genetic disease ISO RGD:1319430 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 1597709 Cnpy3 canopy FGF signaling regulator 3 gene DOID:905 Zellweger syndrome ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1597713 Wfdc8 WAP four-disulfide core domain 8 gene DOID:2234 focal epilepsy ISO RGD:1347537 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1597713 Wfdc8 WAP four-disulfide core domain 8 gene DOID:630 genetic disease ISO RGD:1347537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597713 Wfdc8 WAP four-disulfide core domain 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1347537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 1597714 Fam163b family with sequence similarity 163, member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604863 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:0081097 Rafiq syndrome ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604863 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:3652 Leigh disease ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 1597714 Fam163b family with sequence similarity 163, member B gene DOID:630 genetic disease ISO RGD:1604863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597722 Eppin epididymal peptidase inhibitor gene DOID:2234 focal epilepsy ISO RGD:1315316 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1597722 Eppin epididymal peptidase inhibitor gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1597725 Cfap299 cilia and flagella associated protein 299 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606121 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 1597730 Wfdc6a WAP four-disulfide core domain 6A gene DOID:2234 focal epilepsy ISO RGD:1352143 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1597730 Wfdc6a WAP four-disulfide core domain 6A gene DOID:630 genetic disease ISO RGD:1352143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597730 Wfdc6a WAP four-disulfide core domain 6A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1352143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318635 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:5812 MHC class II deficiency ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:630 genetic disease ISO RGD:1318635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597731 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318635 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1597739 Sec24c SEC24 homolog C, COPII coat complex component gene DOID:10907 microcephaly ISO RGD:1321602 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1597739 Sec24c SEC24 homolog C, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597746 Spint3 serine peptidase inhibitor, Kunitz type, 3 gene DOID:2234 focal epilepsy ISO RGD:1353929 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 1597746 Spint3 serine peptidase inhibitor, Kunitz type, 3 gene DOID:630 genetic disease ISO RGD:1353929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597746 Spint3 serine peptidase inhibitor, Kunitz type, 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1353929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 1597751 Mea1 male-enhanced antigen 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1597751 Mea1 male-enhanced antigen 1 gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1346327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 PMID:25741868 1597751 Mea1 male-enhanced antigen 1 gene DOID:1059 intellectual disability ISO RGD:1346327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28492532|PMID:30676711|PMID:34906502 1597751 Mea1 male-enhanced antigen 1 gene DOID:630 genetic disease ISO RGD:1346327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597751 Mea1 male-enhanced antigen 1 gene DOID:905 Zellweger syndrome ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 1597766 Gbp3 guanylate binding protein 3 gene DOID:630 genetic disease ISO RGD:1349801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597780 Nkx6-3 NK6 homeobox 3 gene DOID:630 genetic disease ISO RGD:1605569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597785 Mtres1 mitochondrial transcription rescue factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 1597791 Ccdc160 coiled-coil domain containing 160 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3379453 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1597791 Ccdc160 coiled-coil domain containing 160 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:3379453 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 1597791 Ccdc160 coiled-coil domain containing 160 gene DOID:12849 autistic disorder ISO RGD:3379453 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1597791 Ccdc160 coiled-coil domain containing 160 gene DOID:630 genetic disease ISO RGD:3379453 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597982 Shld1 shieldin complex subunit 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 1597982 Shld1 shieldin complex subunit 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606148 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 1597986 Map7d1 MAP7 domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603999 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1597986 Map7d1 MAP7 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1597990 C7h8orf33 similar to human chromosome 8 open reading frame 33 gene DOID:630 genetic disease ISO RGD:1606509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598009 Gje1 gap junction protein, epsilon 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:2302326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 1598009 Gje1 gap junction protein, epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:2302326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 1598023 Fam72a family with sequence similarity 72, member A gene DOID:0080600 COVID-19 ISO RGD:1626688 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1598023 Fam72a family with sequence similarity 72, member A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1626688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 1598023 Fam72a family with sequence similarity 72, member A gene DOID:12849 autistic disorder ISO RGD:1626688 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1598023 Fam72a family with sequence similarity 72, member A gene DOID:1540 parathyroid carcinoma ISO RGD:1626688 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1598023 Fam72a family with sequence similarity 72, member A gene DOID:630 genetic disease ISO RGD:1626688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598023 Fam72a family with sequence similarity 72, member A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1626688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 1598023 Fam72a family with sequence similarity 72, member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1626688 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1598031 LOC681241 hypothetical protein LOC681241 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1598031 LOC681241 hypothetical protein LOC681241 gene DOID:630 genetic disease ISO RGD:1350054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598031 LOC681241 hypothetical protein LOC681241 gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868 1598031 LOC681241 hypothetical protein LOC681241 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350054 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 1598038 Dbr1 debranching RNA lariats 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1323625 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23104007 1598038 Dbr1 debranching RNA lariats 1 gene DOID:630 genetic disease ISO RGD:1323625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1598038 Dbr1 debranching RNA lariats 1 gene DOID:9003272 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 ISO RGD:1323625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 PMID:28492532|PMID:29474921 1598038 Dbr1 debranching RNA lariats 1 gene DOID:9003272 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 susceptibility ISO RGD:1323625 D RGD:7240710 20210728 OMIM 1598052 Cox14 cytochrome c oxidase assembly factor COX14 gene DOID:630 genetic disease ISO RGD:1602844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1598052 Cox14 cytochrome c oxidase assembly factor COX14 gene DOID:9006390 Mitochondrial Complex IV Deficiency, Nuclear Type 10 ISO RGD:1602844 D RGD:7240710 20201111 OMIM 1598052 Cox14 cytochrome c oxidase assembly factor COX14 gene DOID:9006390 Mitochondrial Complex IV Deficiency, Nuclear Type 10 ISO RGD:1602844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 PMID:22243966|PMID:25741868|PMID:28492532 1598054 Zfp862 zinc finger protein 862 gene DOID:0060466 gingival fibromatosis ISO RGD:2299992 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868 1598054 Zfp862 zinc finger protein 862 gene DOID:2843 long QT syndrome ISO RGD:2299992 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 1598054 Zfp862 zinc finger protein 862 gene DOID:630 genetic disease ISO RGD:2299992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598060 Mogat2 monoacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1316028 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1598060 Mogat2 monoacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598060 Mogat2 monoacylglycerol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316028 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1598061 MGC94891 hypothetical protein LOC681210 gene DOID:630 genetic disease ISO RGD:1349789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598071 Skor2 SKI family transcriptional corepressor 2 gene DOID:0060356 Vici syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 1598071 Skor2 SKI family transcriptional corepressor 2 gene DOID:1059 intellectual disability ISO RGD:3160638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 1598071 Skor2 SKI family transcriptional corepressor 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:3160638 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 1598076 H3c1 H3 clustered histone 1 gene DOID:9538 multiple myeloma ISO RGD:1345402 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 1598081 Tcp11x2 t-complex 11 family, X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:7243979 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1598081 Tcp11x2 t-complex 11 family, X-linked 2 gene DOID:12849 autistic disorder ISO RGD:7243979 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1598095 Gpr183 G protein-coupled receptor 183 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 1598095 Gpr183 G protein-coupled receptor 183 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 1598095 Gpr183 G protein-coupled receptor 183 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 1598095 Gpr183 G protein-coupled receptor 183 gene DOID:4621 holoprosencephaly ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 1598095 Gpr183 G protein-coupled receptor 183 gene DOID:630 genetic disease ISO RGD:1346200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598095 Gpr183 G protein-coupled receptor 183 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346200 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 1598112 Slc9b2 solute carrier family 9 member B2 gene DOID:3633 beta-mannosidosis ISO RGD:1604997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 1598112 Slc9b2 solute carrier family 9 member B2 gene DOID:630 genetic disease ISO RGD:1604997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598121 Ube2ql1 ubiquitin-conjugating enzyme E2Q family-like 1 gene DOID:630 genetic disease ISO RGD:2798685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598126 Alkbh7 alkB homolog 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 1598126 Alkbh7 alkB homolog 7 gene DOID:630 genetic disease ISO RGD:1352016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598128 Angptl1 angiopoietin-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347249 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1598128 Angptl1 angiopoietin-like 1 gene DOID:630 genetic disease ISO RGD:1347249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598128 Angptl1 angiopoietin-like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347249 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 1598128 Angptl1 angiopoietin-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347249 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1598133 Dram1 DNA-damage regulated autophagy modulator 1 gene DOID:630 genetic disease ISO RGD:1605066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598133 Dram1 DNA-damage regulated autophagy modulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1352437 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1352437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:13636 Fanconi anemia ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:14175 von Hippel-Lindau disease ISO RGD:1352437 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352437 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 1598136 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1352437 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 1598138 Nxph2 neurexophilin 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1344701 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 1598138 Nxph2 neurexophilin 2 gene DOID:5119 ovarian cyst ISO RGD:1344701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 1598138 Nxph2 neurexophilin 2 gene DOID:630 genetic disease ISO RGD:1344701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598149 Vasn vasorin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1598149 Vasn vasorin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1605593 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1598149 Vasn vasorin gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1605593 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1598149 Vasn vasorin gene DOID:1682 congenital heart disease ISO RGD:1605593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868 1598149 Vasn vasorin gene DOID:1826 epilepsy ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1598149 Vasn vasorin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605593 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1598149 Vasn vasorin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1598149 Vasn vasorin gene DOID:630 genetic disease ISO RGD:1605593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598149 Vasn vasorin gene DOID:684 hepatocellular carcinoma ISO RGD:1605593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25826090 1598163 Pam16 presequence translocase associated motor 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 1598163 Pam16 presequence translocase associated motor 16 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603048 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 1598163 Pam16 presequence translocase associated motor 16 gene DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ISO RGD:1603048 D RGD:7240710 20180131 OMIM 1598163 Pam16 presequence translocase associated motor 16 gene DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ISO RGD:1603048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type PMID:24786642|PMID:27354339|PMID:28492532 1598163 Pam16 presequence translocase associated motor 16 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1603048 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 1598163 Pam16 presequence translocase associated motor 16 gene DOID:1682 congenital heart disease ISO RGD:1603048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 1598163 Pam16 presequence translocase associated motor 16 gene DOID:1826 epilepsy ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 1598163 Pam16 presequence translocase associated motor 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1598163 Pam16 presequence translocase associated motor 16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603048 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 1598163 Pam16 presequence translocase associated motor 16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 1598187 Sult6b1 sulfotransferase family 6B member 1 gene DOID:0080690 RASopathy ISO RGD:1626598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1598187 Sult6b1 sulfotransferase family 6B member 1 gene DOID:630 genetic disease ISO RGD:1626598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598206 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1598206 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:0111213 distal spinal muscular atrophy type 4 ISO RGD:1312746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset 1598206 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:12377 spinal muscular atrophy ISO RGD:1312746 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 1598206 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:630 genetic disease ISO RGD:1312746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598206 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312746 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312546 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:0080855 Parkinsonism ISO RGD:1312546 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:10608 celiac disease ISO RGD:1312546 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312546 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:820 myocarditis ISO RGD:1312546 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9002265 Kidney Neoplasms ISO RGD:1312546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312546 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:7240710 20230505 OMIM 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 109 with lymphoproliferation PMID:30872117 1598208 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1312546 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 1598210 Rnf220 ring finger protein 220 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1598210 Rnf220 ring finger protein 220 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605659 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1598210 Rnf220 ring finger protein 220 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1598210 Rnf220 ring finger protein 220 gene DOID:630 genetic disease ISO RGD:1605659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598210 Rnf220 ring finger protein 220 gene DOID:9000978 Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy ISO RGD:1605659 D RGD:7240710 20220112 OMIM 1598210 Rnf220 ring finger protein 220 gene DOID:9000978 Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy ISO RGD:1605659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy PMID:10881263|PMID:33964137|PMID:36083980 1598211 Ccdc17 coiled-coil domain containing 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 1598211 Ccdc17 coiled-coil domain containing 17 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603565 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs2275085) T>C (human) 1598211 Ccdc17 coiled-coil domain containing 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603565 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 1598211 Ccdc17 coiled-coil domain containing 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 1598211 Ccdc17 coiled-coil domain containing 17 gene DOID:630 genetic disease ISO RGD:1603565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis IMP D RGD:11079199|PMID:25136115 20171102 RGD 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20220203 RGD compared to wild type 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:1059 intellectual disability ISO RGD:1350975 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:10763 hypertension ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20210416 RGD 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:13550 angle-closure glaucoma ISO RGD:1350975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:630 genetic disease ISO RGD:1350975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis IMP D RGD:11079199|PMID:25136115 20171102 RGD 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20220203 RGD compared to wild type 1598216 Plekha7 pleckstrin homology domain containing A7 gene DOID:9296 cleft lip ISO RGD:1350975 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 1598218 Nlrp14 NLR family, pyrin domain containing 14 gene DOID:0111910 spermatogenic failure ISO RGD:1315283 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:16931801|PMID:20981092|PMID:22344438|PMID:24033266|PMID:25741868 1598218 Nlrp14 NLR family, pyrin domain containing 14 gene DOID:630 genetic disease ISO RGD:1315283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315114 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1315114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:7240710 20190315 OMIM 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:25741868|PMID:28335020|PMID:28492532|PMID:31048081 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1315114 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:5419 schizophrenia ISO RGD:1315114 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:630 genetic disease ISO RGD:1315114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598226 Znhit3 zinc finger, HIT-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315114 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1598229 Slc25a35 solute carrier family 25, member 35 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 1598229 Slc25a35 solute carrier family 25, member 35 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 1598229 Slc25a35 solute carrier family 25, member 35 gene DOID:2729 dyskeratosis congenita ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 1598229 Slc25a35 solute carrier family 25, member 35 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 1598229 Slc25a35 solute carrier family 25, member 35 gene DOID:630 genetic disease ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1598229 Slc25a35 solute carrier family 25, member 35 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:9536098 1598237 Upk3bl1 uroplakin 3B like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2801955 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1598237 Upk3bl1 uroplakin 3B like 1 gene DOID:630 genetic disease ISO RGD:2801955 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598286 Rbmxl2 Rbmx like 2 gene DOID:630 genetic disease ISO RGD:1603656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598308 Pld4 phospholipase D family, member 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 1598308 Pld4 phospholipase D family, member 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 1598308 Pld4 phospholipase D family, member 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347934 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 1598308 Pld4 phospholipase D family, member 4 gene DOID:630 genetic disease ISO RGD:1347934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598308 Pld4 phospholipase D family, member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 1598308 Pld4 phospholipase D family, member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 1598308 Pld4 phospholipase D family, member 4 gene DOID:9074 systemic lupus erythematosus ISS RGD:1557943 D RGD:13592920 20190905 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:0080600 COVID-19 ISO RGD:736125 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer IEP D RGD:5133688|PMID:21139803 20110623 RGD mRNA:increased expression:bladder (rat) 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:11612 polycystic ovary syndrome ISO RGD:736125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:1793 pancreatic cancer ISO RGD:736125 D RGD:2324950|PMID:19568409 20100517 RGD 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:2870 endometrial adenocarcinoma IAGP D RGD:2324953|PMID:15942940 20100517 RGD DNA:amplification (rat) 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:3459 breast carcinoma ISO RGD:736125 D RGD:5133696|PMID:21556566 20110624 RGD protein:increased expression:tumor (human) 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736125 D RGD:127229933|PMID:19002265 20210603 RGD 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:3910 lung adenocarcinoma ISO RGD:736125 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:630 genetic disease ISO RGD:736125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:684 hepatocellular carcinoma ISO RGD:736125 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18230555|PMID:28284560 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:9006205 Animal Disease Models ISO RGD:736125 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 1598310 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 1598311 Agbl5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:7240710 20190315 OMIM 1598311 Agbl5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 75 PMID:25741868|PMID:26355662|PMID:26720455|PMID:28492532 1598311 Agbl5 AGBL carboxypeptidase 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 1598311 Agbl5 AGBL carboxypeptidase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:31725702 1598311 Agbl5 AGBL carboxypeptidase 5 gene DOID:630 genetic disease ISO RGD:1605057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 1598311 Agbl5 AGBL carboxypeptidase 5 gene DOID:8501 fundus dystrophy ISO RGD:1605057 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 1598312 Mtrf1l mitochondrial translation release factor 1 like gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1316759 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 1598312 Mtrf1l mitochondrial translation release factor 1 like gene DOID:630 genetic disease ISO RGD:1316759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598315 Vat1l vesicle amine transport 1-like gene DOID:0060041 autism spectrum disorder ISO RGD:1605968 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 1598315 Vat1l vesicle amine transport 1-like gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1605968 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 1598315 Vat1l vesicle amine transport 1-like gene DOID:630 genetic disease ISO RGD:1605968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1314467 D RGD:11554173 20200107 CTD CTD Direct Evidence: marker/mechanism 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:19836009|PMID:25741868|PMID:28492532 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:0050475 Weill-Marchesani syndrome susceptibility ISO RGD:1557306 D RGD:243065144|PMID:34424262 20230412 RGD DNA:SNP:cd: p.G661R (mouse) 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:1070 primary open angle glaucoma ISO RGD:12096613 D RGD:9068941 20230309 OMIA Glaucoma, primary open angle, ADAMTS10-related PMID:1428571|PMID:18435660|PMID:21379321|PMID:22524196|PMID:23422823|PMID:23518772|PMID:25372548|PMID:26277300|PMID:26456751|PMID:27212875|PMID:27271467|PMID:27681326|PMID:36855027|PMID:7212410|PMID:7325430|PMID:7720807|PMID:924743 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:12849 autistic disorder ISO RGD:1314467 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:1891 optic nerve disease ISO RGD:1557306 D RGD:243065145|PMID:36216203 20230412 RGD DNA:SNP:cd: p.G661R (mouse) 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:630 genetic disease ISO RGD:1314467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:7240710 20200101 OMIM 1598320 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:15368195|PMID:18567016|PMID:19836009|PMID:25741868|PMID:28492532 1598323 Atg4c autophagy related 4C, cysteine peptidase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1317140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 1598323 Atg4c autophagy related 4C, cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1317140 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 1598323 Atg4c autophagy related 4C, cysteine peptidase gene DOID:630 genetic disease ISO RGD:1317140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598323 Atg4c autophagy related 4C, cysteine peptidase gene DOID:8778 Crohn's disease ISO RGD:1317140 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 1598325 Scaf11 SR-related CTD-associated factor 11 gene DOID:630 genetic disease ISO RGD:1354010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598327 Mov10 Mov10 RISC complex RNA helicase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 1598327 Mov10 Mov10 RISC complex RNA helicase gene DOID:10763 hypertension susceptibility ISO RGD:1321654 D RGD:13513987|PMID:24338417 20180319 RGD DNA:SNP: :rs2932538(human) 1598327 Mov10 Mov10 RISC complex RNA helicase gene DOID:13938 amenorrhea ISO RGD:1321654 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 1598327 Mov10 Mov10 RISC complex RNA helicase gene DOID:5426 primary ovarian insufficiency ISO RGD:1321654 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 1598327 Mov10 Mov10 RISC complex RNA helicase gene DOID:630 genetic disease ISO RGD:1321654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598328 Ngf nerve growth factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352304 D RGD:11554173 20180123 CTD CTD Direct Evidence: marker/mechanism 1598328 Ngf nerve growth factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1352304 D RGD:5144120|PMID:17667845 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:10978 D RGD:7242845|PMID:23528019 20130423 RGD associated with Diabetes Mellitus, Experimental 1598328 Ngf nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:7240710 20180117 OMIM 1598328 Ngf nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar Annotator: match by term: HSAN Type V PMID:14976160|PMID:18420729|PMID:19038341|PMID:19945432|PMID:20978020|PMID:21358750|PMID:21387003|PMID:22330829|PMID:25741868|PMID:26215504|PMID:28492532|PMID:30296891|PMID:32693191 1598328 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:10978 D RGD:7242779|PMID:21717507 20130422 RGD associated with Cystitis;protein:increased expression:urine 1598328 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16600756 1598328 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:7242778|PMID:21826717 20130422 RGD protein:increased expression:serum 1598328 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:7242798|PMID:17050722 20130423 RGD 1598328 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment IDA D RGD:7242775|PMID:22473863 20130422 RGD associated with Hypertension 1598328 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment IDA D RGD:7242780|PMID:21605172 20130422 RGD associated with Cystitis 1598328 Ngf nerve growth factor gene DOID:0080690 RASopathy ISO RGD:1352304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 1598328 Ngf nerve growth factor gene DOID:0080855 Parkinsonism ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19694610 1598328 Ngf nerve growth factor gene DOID:10003 sensorineural hearing loss ISO RGD:1352304 D RGD:8655553|PMID:14587217 20140515 RGD protein:decreased expression:serum: 1598328 Ngf nerve growth factor gene DOID:10584 retinitis pigmentosa IEP D RGD:4891133|PMID:20595895 20110106 RGD protein:decreased expression:lacrimal gland 1598328 Ngf nerve growth factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20978020|PMID:22302274|PMID:28492532 1598328 Ngf nerve growth factor gene DOID:1063 interstitial nephritis ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 1598328 Ngf nerve growth factor gene DOID:10652 Alzheimer's disease IEP D RGD:5144128|PMID:21368378 20110801 RGD 1598328 Ngf nerve growth factor gene DOID:10763 hypertension IEP D RGD:5144109|PMID:10797303 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:10914 amnestic disorder ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16405025|PMID:19694610 1598328 Ngf nerve growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:10978 D RGD:7242913|PMID:22776032 20130425 RGD 1598328 Ngf nerve growth factor gene DOID:12143 neurogenic bladder ISO RGD:1352304 D RGD:7242771|PMID:23301927 20130422 RGD associated with Meningomyelocele;protein:increased expression:urine 1598328 Ngf nerve growth factor gene DOID:12143 neurogenic bladder treatment IDA D RGD:7242776|PMID:22220508 20130422 RGD associated with Spinal Cord Injuries 1598328 Ngf nerve growth factor gene DOID:12217 Lewy body dementia ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 1598328 Ngf nerve growth factor gene DOID:1273 respiratory syncytial virus infectious disease IEP D RGD:4891065|PMID:19824047 20110104 RGD 1598328 Ngf nerve growth factor gene DOID:1289 neurodegenerative disease ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24244623 1598328 Ngf nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:4891110|PMID:16315781 20110105 RGD 1598328 Ngf nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:5144061|PMID:21059230 20110728 RGD protein:increased expression:respiratory system fluid/secretion 1598328 Ngf nerve growth factor gene DOID:13948 bladder neck obstruction treatment IDA D RGD:7242774|PMID:22795377 20130422 RGD 1598328 Ngf nerve growth factor gene DOID:13949 interstitial cystitis ISO RGD:1352304 D RGD:7242773|PMID:23028581 20130422 RGD protein:increased expression:serum, urine 1598328 Ngf nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:10978 D RGD:7242805|PMID:18162370 20130423 RGD 1598328 Ngf nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:1352304 D RGD:7242781|PMID:20227820 20130422 RGD 1598328 Ngf nerve growth factor gene DOID:14330 Parkinson's disease ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 1598328 Ngf nerve growth factor gene DOID:1459 hypothyroidism IEP D RGD:2303791|PMID:19233274 20090226 RGD mRNA:decreased expression:hypothalamus 1598328 Ngf nerve growth factor gene DOID:1596 depressive disorder IEP D RGD:2303796|PMID:19129380 20090226 RGD mRNA:decreased expression:hippocampus 1598328 Ngf nerve growth factor gene DOID:1679 cystitis IMP D RGD:7242802|PMID:19996110 20130423 RGD 1598328 Ngf nerve growth factor gene DOID:1679 cystitis ISO RGD:10978 D RGD:7242808|PMID:11350415 20130423 RGD 1598328 Ngf nerve growth factor gene DOID:1679 cystitis ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 1598328 Ngf nerve growth factor gene DOID:1679 cystitis treatment ISO RGD:10978 D RGD:7242782|PMID:20127836 20130422 RGD 1598328 Ngf nerve growth factor gene DOID:1686 glaucoma IEP D RGD:2303806|PMID:18938194 20090226 RGD protein:decreased expression:cerebrospinal fluid 1598328 Ngf nerve growth factor gene DOID:1790 malignant mesothelioma ISO RGD:1352304 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 1598328 Ngf nerve growth factor gene DOID:1824 status epilepticus ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 1598328 Ngf nerve growth factor gene DOID:1936 atherosclerosis ISO RGD:1352304 D RGD:5508382|PMID:11689207 20111013 RGD protein:decreased expression:coronary artery (human) 1598328 Ngf nerve growth factor gene DOID:2841 asthma ISO RGD:10978 D RGD:4891068|PMID:17497413 20110104 RGD protein:increased expression:lung, serum 1598328 Ngf nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:4891122|PMID:12752594 20110105 RGD protein:increased expression:blood, eosinophil 1598328 Ngf nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:4891123|PMID:11737043 20110105 RGD 1598328 Ngf nerve growth factor gene DOID:2841 asthma severity ISO RGD:1352304 D RGD:4891108|PMID:17164945 20110105 RGD 1598328 Ngf nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 1598328 Ngf nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:7242783|PMID:19169037 20130422 RGD protein:increased expression:serum 1598328 Ngf nerve growth factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1352304 D RGD:7242801|PMID:21178826 20130423 RGD DNA:SNP: :rs11102930 (human) 1598328 Ngf nerve growth factor gene DOID:3082 interstitial lung disease ISO RGD:1352304 D RGD:8657022|PMID:24691584 20140528 RGD associated with Sjogren's Syndrome;protein:increased expression:serum: 1598328 Ngf nerve growth factor gene DOID:3310 atopic dermatitis ISO RGD:1352304 D RGD:8657069|PMID:17073871 20140529 RGD protein:increased expression:serum: 1598328 Ngf nerve growth factor gene DOID:3393 coronary artery disease ISO RGD:1352304 D RGD:1580935|PMID:11935372 20070125 RGD 1598328 Ngf nerve growth factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10408807 1598328 Ngf nerve growth factor gene DOID:365 bladder disease ISO RGD:10978 D RGD:7242800|PMID:15448108 20130423 RGD associated with Diabetes Mellitus, Experimental 1598328 Ngf nerve growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:1352304 D RGD:4891121|PMID:12917229 20110105 RGD protein:increased expression:sputum 1598328 Ngf nerve growth factor gene DOID:418 systemic scleroderma ISO RGD:1352304 D RGD:5144060|PMID:21085492 20110728 RGD protein:increased expression:serum 1598328 Ngf nerve growth factor gene DOID:431 myofascial pain syndrome IEP D RGD:5144120|PMID:17667845 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:4891064|PMID:19958603 20110104 RGD associated with Sinusitis;protein:increased expression:respiratory system mucosa 1598328 Ngf nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:4891115|PMID:10224365 20110105 RGD protein:increased expression:respiratory system fluid/secretion 1598328 Ngf nerve growth factor gene DOID:574 peripheral nervous system disease ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15319252 1598328 Ngf nerve growth factor gene DOID:630 genetic disease ISO RGD:1352304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1598328 Ngf nerve growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 1598328 Ngf nerve growth factor gene DOID:783 end stage renal disease ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 1598328 Ngf nerve growth factor gene DOID:783 end stage renal disease treatment ISO RGD:1352304 D RGD:7242783|PMID:19169037 20130422 RGD 1598328 Ngf nerve growth factor gene DOID:784 chronic kidney disease ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 1598328 Ngf nerve growth factor gene DOID:8463 corneal ulcer ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24244623 1598328 Ngf nerve growth factor gene DOID:8549 chronic ulcer of skin ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24244623 1598328 Ngf nerve growth factor gene DOID:863 nervous system disease ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15093677 1598328 Ngf nerve growth factor gene DOID:8947 diabetic retinopathy ISO RGD:1352304 D RGD:7242804|PMID:18282491 20130423 RGD protein:increased expression:serum 1598328 Ngf nerve growth factor gene DOID:90 degenerative disc disease IMP D RGD:5144150|PMID:20973063 20110801 RGD 1598328 Ngf nerve growth factor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5144069|PMID:16915089 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5144073|PMID:12499054 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:10978 D RGD:5144062|PMID:20075049 20110728 RGD protein:increased expression:respiratory system fluid/secretion 1598328 Ngf nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20075049 1598328 Ngf nerve growth factor gene DOID:9000641 Pain IMP D RGD:2303798|PMID:19103210 20090226 RGD 1598328 Ngf nerve growth factor gene DOID:9000641 Pain treatment ISO RGD:1352304 D RGD:7242806|PMID:17905097 20130423 RGD associated with Cystitis, Interstitial 1598328 Ngf nerve growth factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22871964 1598328 Ngf nerve growth factor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:8657088|PMID:11425916 20140530 RGD mRNA,protein:increased expression:sciatic nerve: 1598328 Ngf nerve growth factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 1598328 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia IMP D RGD:7242803|PMID:18448607 20130423 RGD associated with Cystitis 1598328 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia IMP D RGD:8657088|PMID:11425916 20140530 RGD associated with Peripheral Nerve Injuries; 1598328 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:10978 D RGD:7242799|PMID:16203088 20130423 RGD associated with Cystitis 1598328 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 1598328 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia treatment IDA D RGD:7242849|PMID:22839415 20130423 RGD 1598328 Ngf nerve growth factor gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22666365 1598328 Ngf nerve growth factor gene DOID:9002362 Hyperkinesis ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1661212 1598328 Ngf nerve growth factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5508386|PMID:8866783 20111013 RGD protein, mRNA:increased expression:thalamus and cortex, CNS 1598328 Ngf nerve growth factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22666365 1598328 Ngf nerve growth factor gene DOID:9004610 Acute Lung Injury ISO RGD:10978 D RGD:5144065|PMID:17673270 20110728 RGD 1598328 Ngf nerve growth factor gene DOID:9005372 Inflammation IEP D RGD:2303794|PMID:19200610 20090226 RGD 1598328 Ngf nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10653021 1598328 Ngf nerve growth factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 1598328 Ngf nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2303795|PMID:19149268 20090226 RGD mRNA, protein:decreased expression:sciatic nerve 1598328 Ngf nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5144144|PMID:21136036 20110801 RGD protein:increased expression:retina 1598328 Ngf nerve growth factor gene DOID:9006190 Chronic Pancreatitis IEP D RGD:5144071|PMID:16098667 20110729 RGD protein:increased expression:pancreas 1598328 Ngf nerve growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1352304 D RGD:1580935|PMID:11935372 20150324 RGD 1598328 Ngf nerve growth factor gene DOID:9007096 Stroke IMP D RGD:2303801|PMID:19061539 20090226 RGD 1598328 Ngf nerve growth factor gene DOID:9007730 Burns IMP D RGD:5144074|PMID:12133564 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1352304 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL PMID:28492532 1598328 Ngf nerve growth factor gene DOID:9008717 Rib Fractures IEP D RGD:5144111|PMID:9798454 20110729 RGD 1598328 Ngf nerve growth factor gene DOID:9279 hyperhomocysteinemia IEP D RGD:5144149|PMID:21044172 20110801 RGD 1598328 Ngf nerve growth factor gene DOID:9470 bacterial meningitis IEP D RGD:8655554|PMID:22683802 20140515 RGD mRNA:decreased expression:hippocampus: 1598328 Ngf nerve growth factor gene DOID:9743 diabetic neuropathy IEP D RGD:5508379|PMID:12469361 20111013 RGD mRNA,protein:decreased expression:sciatic nerve 1598328 Ngf nerve growth factor gene DOID:9976 heroin dependence ISO RGD:1352304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 1598329 Sec31b SEC31 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1317006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598332 Lmtk2 lemur tyrosine kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315801 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1598332 Lmtk2 lemur tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1315801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598332 Lmtk2 lemur tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264097 1598335 Prr35 proline rich 35 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602296 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 1598335 Prr35 proline rich 35 gene DOID:1826 epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:24463883|PMID:25558065|PMID:28492532 1598335 Prr35 proline rich 35 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1598335 Prr35 proline rich 35 gene DOID:630 genetic disease ISO RGD:1602296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598368 Mphosph9 M-phase phosphoprotein 9 gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1313543 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 1598368 Mphosph9 M-phase phosphoprotein 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1313543 D RGD:2316985|PMID:19879194 20100308 RGD DNA:snp:intron:122222678G>T rs1790100 (human) 1598368 Mphosph9 M-phase phosphoprotein 9 gene DOID:630 genetic disease ISO RGD:1313543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598370 RT1-N3 RT1 class Ib, locus N3 gene DOID:9007102 Myocardial Ischemia EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1598536 Lsm2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0050553 JMP syndrome ISO RGD:1350592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1598543 Cdsn corneodesmosin gene DOID:0050553 JMP syndrome ISO RGD:1353195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1598543 Cdsn corneodesmosin gene DOID:0060283 peeling skin syndrome ISO RGD:1353195 D RGD:11554173 20180612 CTD CTD Direct Evidence: marker/mechanism 1598543 Cdsn corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:7240710 20130425 OMIM 1598543 Cdsn corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 2 PMID:10793007|PMID:12754508|PMID:25741868|PMID:28492532|PMID:3652491 1598543 Cdsn corneodesmosin gene DOID:11372 megacolon ISO RGD:1353195 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 1598543 Cdsn corneodesmosin gene DOID:3310 atopic dermatitis ISO RGD:1353195 D RGD:42721970|PMID:21211653 20210225 RGD protein:decreased expression:skin of body (human) 1598543 Cdsn corneodesmosin gene DOID:630 genetic disease ISO RGD:1353195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598543 Cdsn corneodesmosin gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1353195 D RGD:7240710 20180606 OMIM 1598543 Cdsn corneodesmosin gene DOID:9002384 Peeling Skin Syndrome 1 ISO RGD:1353195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:20691404|PMID:21191406|PMID:22146835|PMID:23957618|PMID:2434123|PMID:25741868|PMID:28492532|PMID:31690835 1598543 Cdsn corneodesmosin gene DOID:987 alopecia ISO RGD:1353195 D RGD:1599783|PMID:12754508 20070214 RGD hypotrichosis simplex of the scalp, OMIM:146520 1598663 Elk1 ETS transcription factor ELK1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349633 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1598663 Elk1 ETS transcription factor ELK1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 1598663 Elk1 ETS transcription factor ELK1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 1598663 Elk1 ETS transcription factor ELK1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 1598663 Elk1 ETS transcription factor ELK1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 1598663 Elk1 ETS transcription factor ELK1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 1598663 Elk1 ETS transcription factor ELK1 gene DOID:10652 Alzheimer's disease ISO RGD:1349633 D RGD:7488914|PMID:20126313 20131205 RGD 1598663 Elk1 ETS transcription factor ELK1 gene DOID:12217 Lewy body dementia ISO RGD:1349633 D RGD:7488914|PMID:20126313 20131205 RGD 1598663 Elk1 ETS transcription factor ELK1 gene DOID:12849 autistic disorder ISO RGD:1349633 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1598663 Elk1 ETS transcription factor ELK1 gene DOID:12858 Huntington's disease ISO RGD:1349633 D RGD:7488914|PMID:20126313 20131205 RGD 1598663 Elk1 ETS transcription factor ELK1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:7488902|PMID:17091294 20131204 RGD 1598663 Elk1 ETS transcription factor ELK1 gene DOID:5419 schizophrenia ISO RGD:1349633 D RGD:10047412|PMID:10891039 20150713 RGD protein:increased expression:cerebellar vermis 1598663 Elk1 ETS transcription factor ELK1 gene DOID:630 genetic disease ISO RGD:1349633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598663 Elk1 ETS transcription factor ELK1 gene DOID:9000998 Brain Injuries IDA D RGD:7488910|PMID:15362724 20131205 RGD 1598663 Elk1 ETS transcription factor ELK1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349633 D RGD:7488901|PMID:20008130 20131204 RGD mRNA:decreased expression:placenta 1598664 Pcdhga3 protocadherin gamma subfamily A, 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349153 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 1598664 Pcdhga3 protocadherin gamma subfamily A, 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349153 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1598664 Pcdhga3 protocadherin gamma subfamily A, 3 gene DOID:630 genetic disease ISO RGD:1349153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598664 Pcdhga3 protocadherin gamma subfamily A, 3 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1349153 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 1598664 Pcdhga3 protocadherin gamma subfamily A, 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349153 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1598664 Pcdhga3 protocadherin gamma subfamily A, 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349153 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 1598796 Myl1 myosin, light chain 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 1598796 Myl1 myosin, light chain 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733783 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 1598796 Myl1 myosin, light chain 1 gene DOID:630 genetic disease ISO RGD:733783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1598796 Myl1 myosin, light chain 1 gene DOID:9001348 Congenital Myopathy 14 ISO RGD:733783 D RGD:7240710 20190529 OMIM 1598796 Myl1 myosin, light chain 1 gene DOID:9001348 Congenital Myopathy 14 ISO RGD:733783 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 14 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY PMID:25741868|PMID:30215711 1598796 Myl1 myosin, light chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733783 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1598796 Myl1 myosin, light chain 1 gene DOID:9007588 Heart Injuries ISO RGD:733783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 1598797 WF.WKY-(D10Got124-D10Rat187)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:1581951|PMID:16568087 20200925 RGD compared to WF/NHsd 1598798 BBDP/WorN strain DOID:614 lymphopenia IAGP D RGD:1578691 20070214 RGD 1598798 BBDP/WorN strain DOID:7188 autoimmune thyroiditis IAGP D RGD:1578691 20070214 RGD 1598798 BBDP/WorN strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:1578691 20070214 RGD 1598799 ACI.FHH-(D1Rat384-D1Rat452)(D17Rat61-D1Arb5)(D17Rat51)/Eur strain DOID:10763 hypertension induced IAGP D RGD:1582571|PMID:16837819 20191210 RGD compared to ACI/Eur, ACI.FHH-(D1Rat384-D1Rat156)/Eur 1598800 ACI.FHH-(D1Rat384-D1Rat156)/Eur strain DOID:10763 hypertension induced IAGP D RGD:1582571|PMID:16837819 20070111 RGD compared to ACI/Eur 1598800 ACI.FHH-(D1Rat384-D1Rat156)/Eur strain DOID:1312 focal segmental glomerulosclerosis induced IAGP D RGD:1582571|PMID:16837819 20070111 RGD compared to ACI/Eur 1598801 ACI.FHH-(D1Mit18-D1Mit8)(D14Mit11-D14Hmgc14b)(D14Rat65-D14Rat90)/Eur strain DOID:10763 hypertension induced IAGP D RGD:1582571|PMID:16837819 20070111 RGD compared to ACI/Eur, ACI.FHH-(D1Rat384-D1Rat156)/Eur, 1598801 ACI.FHH-(D1Mit18-D1Mit8)(D14Mit11-D14Hmgc14b)(D14Rat65-D14Rat90)/Eur strain DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:1582571|PMID:16837819 20191210 RGD compared to ACI/Eur, ACI.FHH-(D1Rat384-D1Rat452)(D17Rat61-D1Arb5)(D17Rat51)/Eur 1598801 ACI.FHH-(D1Mit18-D1Mit8)(D14Mit11-D14Hmgc14b)(D14Rat65-D14Rat90)/Eur strain DOID:1312 focal segmental glomerulosclerosis induced IAGP D RGD:1582571|PMID:16837819 20191210 RGD compared to ACI.FHH-(D1Rat384-D1Rat156) 1598801 ACI.FHH-(D1Mit18-D1Mit8)(D14Mit11-D14Hmgc14b)(D14Rat65-D14Rat90)/Eur strain DOID:9001542 Albuminuria IAGP D RGD:1582571|PMID:16837819 20070111 RGD compared to ACI/Eur, ACI.FHH-(D1Rat384-D1Rat156)/Eur, ACI.FHH-(D1Rat384-D1Rat452)(D17Rat61-D1Arb5)(D17Rat51)/Eur 1598803 BBNB/WorN strain DOID:614 lymphopenia IAGP D RGD:1578691 20070214 RGD 1598803 BBNB/WorN strain DOID:7188 autoimmune thyroiditis IAGP D RGD:13593538|PMID:1986916 20070214 RGD 1598803 BBNB/WorN strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:13593538|PMID:1986916 20200224 RGD 1598805 Memor8 Memory QTL 8 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598805 Memor8 Memory QTL 8 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598807 Glom12 Glomerulus QTL 12 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598807 Glom12 Glomerulus QTL 12 qtl DOID:557 kidney disease IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598809 Memor15 Memory QTL 15 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598809 Memor15 Memory QTL 15 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598811 Bp291 Blood pressure QTL 291 qtl DOID:9006024 Hypotension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598813 Memor9 Memory QTL 9 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598813 Memor9 Memory QTL 9 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598814 Mcs13 Mammary carcinoma susceptibility QTL 13 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1559294|PMID:16266982 20120829 RGD 1598816 Memor12 Memory QTL 12 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598816 Memor12 Memory QTL 12 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598817 Glom13 Glomerulus QTL 13 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598817 Glom13 Glomerulus QTL 13 qtl DOID:557 kidney disease IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598819 Bp292 Blood pressure QTL 292 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598823 Memor16 Memory QTL 16 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598823 Memor16 Memory QTL 16 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598824 Memor4 Memory QTL 4 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598824 Memor4 Memory QTL 4 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598826 Anxrr20 Anxiety related response QTL 20 qtl DOID:2030 anxiety disorder IDA D RGD:1578499|PMID:16490266 20130716 RGD 1598828 Glom14 Glomerulus QTL 14 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598828 Glom14 Glomerulus QTL 14 qtl DOID:557 kidney disease IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598830 Bp288 Blood pressure QTL 288 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598832 Glom11 Glomerulus QTL 11 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598832 Glom11 Glomerulus QTL 11 qtl DOID:557 kidney disease IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598833 Bp295 Blood pressure QTL 295 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598834 Memor11 Memory QTL 11 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598834 Memor11 Memory QTL 11 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598835 Anxrr18 Anxiety related response QTL 18 qtl DOID:2030 anxiety disorder IDA D RGD:1578499|PMID:16490266 20130716 RGD 1598837 Memor13 Memory QTL 13 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598837 Memor13 Memory QTL 13 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598838 Bp290 Blood pressure QTL 290 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598841 Memor7 Memory QTL 7 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598841 Memor7 Memory QTL 7 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598842 Glom10 Glomerulus QTL 10 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598842 Glom10 Glomerulus QTL 10 qtl DOID:557 kidney disease IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598843 Cm63 Cardiac mass QTL 63 qtl DOID:9003936 Cardiomegaly IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598843 Cm63 Cardiac mass QTL 63 qtl DOID:9006024 Hypotension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598845 Mcs14 Mammary carcinoma susceptibility QTL 14 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1559294|PMID:16266982 20120829 RGD 1598846 Bp293 Blood pressure QTL 293 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598847 Cm62 Cardiac mass QTL 62 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598847 Cm62 Cardiac mass QTL 62 qtl DOID:9003936 Cardiomegaly IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598849 Memor17 Memory QTL 17 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598849 Memor17 Memory QTL 17 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598850 Bp297 Blood pressure QTL 297 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598852 Anxrr19 Anxiety related response QTL 19 qtl DOID:2030 anxiety disorder IDA D RGD:1578499|PMID:16490266 20130716 RGD 1598853 Memor3 Memory QTL 3 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598853 Memor3 Memory QTL 3 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598854 Memor10 Memory QTL 10 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598854 Memor10 Memory QTL 10 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598855 Bp294 Blood pressure QTL 294 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598856 Memor1 Memory QTL 1 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598856 Memor1 Memory QTL 1 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598858 Cm61 Cardiac mass QTL 61 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598858 Cm61 Cardiac mass QTL 61 qtl DOID:9003936 Cardiomegaly IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598859 Cm66 Cardiac mass QTL 66 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598859 Cm66 Cardiac mass QTL 66 qtl DOID:9003936 Cardiomegaly IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598861 Cm64 Cardiac mass QTL 64 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598861 Cm64 Cardiac mass QTL 64 qtl DOID:9003936 Cardiomegaly IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598862 Glom9 Glomerulus QTL 9 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598862 Glom9 Glomerulus QTL 9 qtl DOID:557 kidney disease IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598863 Cm65 Cardiac mass QTL 65 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598863 Cm65 Cardiac mass QTL 65 qtl DOID:9003936 Cardiomegaly IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598865 Bp296 Blood pressure QTL 296 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598866 Bp287 Blood pressure QTL 287 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598868 Mcs12 Mammary carcinoma susceptibility QTL 12 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:6893465|PMID:1559294 20120829 RGD 1598869 Memor6 Memory QTL 6 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598869 Memor6 Memory QTL 6 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598870 Bp289 Blood pressure QTL 289 qtl DOID:10763 hypertension IDA D RGD:1581737|PMID:16720678 20070111 RGD 1598871 Memor5 Memory QTL 5 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598871 Memor5 Memory QTL 5 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598872 Memor14 Memory QTL 14 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598872 Memor14 Memory QTL 14 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598873 Memor2 Memory QTL 2 qtl DOID:8927 learning disability IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598873 Memor2 Memory QTL 2 qtl DOID:9008023 Memory Disorders IDA D RGD:1581615|PMID:16837653 20070111 RGD 1598875 Bp286 Blood pressure QTL 286 qtl DOID:9006024 Hypotension IDA D RGD:1581650|PMID:17028336 20070111 RGD 1598877 Bp285 Blood pressure QTL 285 qtl DOID:9006024 Hypotension IDA D RGD:1581650|PMID:17028336 20070111 RGD 1599277 Car14 carbonic anhydrase 14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1599277 Car14 carbonic anhydrase 14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1599277 Car14 carbonic anhydrase 14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1599277 Car14 carbonic anhydrase 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317436 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1599277 Car14 carbonic anhydrase 14 gene DOID:5812 MHC class II deficiency ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1599277 Car14 carbonic anhydrase 14 gene DOID:630 genetic disease ISO RGD:1317436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1599277 Car14 carbonic anhydrase 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317436 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347463 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:5812 MHC class II deficiency ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:630 genetic disease ISO RGD:1347463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1599278 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347463 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1599567 Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP XCO:0000642 D RGD:14369425|PMID:21730301 20220127 RGD 1599675 BBDP.WF-(D13Rat124-D13Mgh5)/Sunn strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:1624306|PMID:17389329 20070829 RGD 1599689 Iddm24 Insulin dependent diabetes mellitus QTL 24 qtl DOID:9005643 Experimental Diabetes Mellitus susceptibility IDA D RGD:1624306|PMID:17389329 20070829 RGD 1599755 F344.BN-(D16Mit5-D16Rat75) strain DOID:9001586 Experimental Liver Neoplasms induced IAGP XCO:0000206 D RGD:1599590|PMID:17079458 20111108 RGD 1599758 SS-Sod3m1Mcwi strain DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP XCO:0000642 D RGD:14369425|PMID:21730301 20220125 RGD 1599759 GRY/Idr groggy rat strain DOID:1825 childhood absence epilepsy IAGP D RGD:1598976|PMID:17196942 20170504 RGD 1599760 SPRD.WKY-(D18Wox8-D18Rat44)/Ibmm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:1599390|PMID:17230524 20200316 RGD 1599760 SPRD.WKY-(D18Wox8-D18Rat44)/Ibmm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2302423|PMID:19052818 20200318 RGD 1599763 SPRD.WKY-(D5Rat190-D5Rat114)/Ibmm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:1599390|PMID:17230524 20200316 RGD 1599763 SPRD.WKY-(D5Rat190-D5Rat114)/Ibmm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2302423|PMID:19052818 20200318 RGD 1600217 Gnl3l G protein nucleolar 3 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346519 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1600217 Gnl3l G protein nucleolar 3 like gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 1600217 Gnl3l G protein nucleolar 3 like gene DOID:12849 autistic disorder ISO RGD:1346519 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1600217 Gnl3l G protein nucleolar 3 like gene DOID:630 genetic disease ISO RGD:1346519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1600311 Rab38ru Rab38, member of RAS oncogene family, ruby allele gene DOID:2223 platelet storage pool deficiency IAGP D RGD:1302447|PMID:9250486 20201210 RGD 1600311 Rab38ru Rab38, member of RAS oncogene family, ruby allele gene DOID:3753 Hermansky-Pudlak syndrome IAGP D RGD:2324690|PMID:19897744 20180501 RGD 1600340 DA/BklArbNsi strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP D RGD:1359065|PMID:15944295 20201030 RGD compared to congenics with F344 1600341 LEW-Tg(Ren2)27/Jmul strain DOID:576 proteinuria IMP D RGD:2293121|PMID:18456730 20080513 RGD 1600343 SHRSP.WKY-(D1Wox29-D1Arb21)/Izm strain DOID:0050851 glomerulosclerosis susceptibility IAGP XCO:0000164 D RGD:2302104|PMID:18971556 20081119 RGD compared to SHRSP/Izm; MMO:0000496 1600358 Mamtr5 Mammary tumor resistance QTL 5 qtl DOID:299 adenocarcinoma IDA D RGD:1599390|PMID:17230524 20070314 RGD 1600358 Mamtr5 Mammary tumor resistance QTL 5 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599390|PMID:17230524 20120809 RGD 1600360 Mcs16 Mammary carcinoma susceptibility QTL 16 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600360 Mcs16 Mammary carcinoma susceptibility QTL 16 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600362 Mcs19 Mammary carcinoma susceptibility QTL 19 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600362 Mcs19 Mammary carcinoma susceptibility QTL 19 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600363 Hc6 Hypercalciuria QTL 6 qtl DOID:9002315 Kidney Calculi IDA D RGD:1582396|PMID:16611718 20070309 RGD 1600365 Mcs20 Mammary carcinoma susceptibility QTL 20 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600365 Mcs20 Mammary carcinoma susceptibility QTL 20 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600367 Mcs15 Mammary carcinoma susceptibility QTL 15 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:1581951|PMID:16568087 20070309 RGD 1600369 Hcas8 Hepatocarcinoma susceptibility QTL 8 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:1599590|PMID:17079458 20070314 RGD 1600371 Mcs21 Mammary carcinoma susceptibility QTL 21 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600371 Mcs21 Mammary carcinoma susceptibility QTL 21 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600373 Mamtr6 Mammary tumor resistance QTL 6 qtl DOID:299 adenocarcinoma IDA D RGD:1599390|PMID:17230524 20070314 RGD 1600373 Mamtr6 Mammary tumor resistance QTL 6 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599390|PMID:17230524 20120809 RGD 1600374 Mcs17 Mammary carcinoma susceptibility QTL 17 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600374 Mcs17 Mammary carcinoma susceptibility QTL 17 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600375 Mcs22 Mammary carcinoma susceptibility QTL 22 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600375 Mcs22 Mammary carcinoma susceptibility QTL 22 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600379 Mcs18 Mammary carcinoma susceptibility QTL 18 qtl DOID:299 adenocarcinoma IAGP D RGD:1599317|PMID:16596452 20070309 RGD 1600379 Mcs18 Mammary carcinoma susceptibility QTL 18 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:1599317|PMID:16596452 20070314 RGD 1600382 Edcs3 Endometrial carcinoma susceptibility QTL3 qtl DOID:9004265 Endometrioid Carcinomas susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600382 Edcs3 Endometrial carcinoma susceptibility QTL3 qtl DOID:9007715 Endometrial Neoplasms susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600384 Niddm66 Non-insulin dependent diabetes mellitus QTL 66 qtl DOID:4195 hyperglycemia IDA D RGD:1599587|PMID:16951059 20070824 RGD 1600384 Niddm66 Non-insulin dependent diabetes mellitus QTL 66 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:1599587|PMID:16951059 20070824 RGD 1600386 Calcic2 Intracellular calcium level QTL 2 qtl DOID:10763 hypertension IAGP D RGD:1599588|PMID:17261463 20070314 RGD 1600390 Niddm64 Non-insulin dependent diabetes mellitus QTL 64 qtl DOID:4195 hyperglycemia IDA D RGD:1599587|PMID:16951059 20070824 RGD 1600390 Niddm64 Non-insulin dependent diabetes mellitus QTL 64 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:1599587|PMID:16951059 20070824 RGD 1600391 Edcs2 Endometrial carcinoma susceptibility QTL2 qtl DOID:9004265 Endometrioid Carcinomas susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600391 Edcs2 Endometrial carcinoma susceptibility QTL2 qtl DOID:9007715 Endometrial Neoplasms susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600392 Bw123 Body weight QTL 123 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:1599587|PMID:16951059 20070824 RGD 1600394 Edcs1 Endometrial carcinoma susceptibility QTL1 qtl DOID:9004265 Endometrioid Carcinomas susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600394 Edcs1 Endometrial carcinoma susceptibility QTL1 qtl DOID:9007715 Endometrial Neoplasms susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600397 Edcs4 Endometrial carcinoma susceptibility QTL 4 qtl DOID:9004265 Endometrioid Carcinomas susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600397 Edcs4 Endometrial carcinoma susceptibility QTL 4 qtl DOID:9007715 Endometrial Neoplasms susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600398 Edcs5 Endometrial carcinoma susceptibility QTL 5 qtl DOID:9004265 Endometrioid Carcinomas susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600398 Edcs5 Endometrial carcinoma susceptibility QTL 5 qtl DOID:9007715 Endometrial Neoplasms susceptibility IDA D RGD:1599856|PMID:11745480 20070824 RGD 1600399 Niddm65 Non-insulin dependent diabetes mellitus QTL 65 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:1599587|PMID:16951059 20070824 RGD 1601131 Ccdc92 coiled-coil domain containing 92 gene DOID:630 genetic disease ISO RGD:1604596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1601131 Ccdc92 coiled-coil domain containing 92 gene DOID:9000528 Coronary Disease ISO RGD:1604596 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1601131 Ccdc92 coiled-coil domain containing 92 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604596 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease ISO RGD:736532 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease ISO RGD:736532 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Buruli ulcer, susceptibility to PMID:16395392 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:5684929|PMID:21128323 20120105 RGD DNA:polymorphisms: :1730G>A (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:5684952|PMID:16059695 20120105 RGD DNA:point mutation:promoter:-237C>T (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0060180 colitis ISO RGD:736533 D RGD:5684975|PMID:19016783 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:736532 D RGD:5684949|PMID:16734634 20120105 RGD DNA:deletion:3' utr:*55_*58delTGTG (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736532 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0080176 meningococcal meningitis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:5684972|PMID:10608779 20120105 RGD DNA:polymorphisms, haplotype (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:1024 leprosy susceptibility ISO RGD:736532 D RGD:5684957|PMID:15755200 20120105 RGD DNA:repeat:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736532 D RGD:5684951|PMID:16516037 20120105 RGD DNA:repeat, polymorphism:promoter, cds:p.D543N (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:5684925|PMID:22160516 20120105 RGD DNA:repeat, SNP:promoter, intron (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:13241 Behcet's disease ISO RGD:736532 D RGD:5684936|PMID:18998137 20120105 RGD DNA:polymorphism:intron (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:13622 campylobacteriosis ISO RGD:736533 D RGD:5684976|PMID:18656410 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:5684937|PMID:18973068 20120105 RGD DNA:repeat:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis no_association ISO RGD:736532 D RGD:5684960|PMID:15584484 20120105 RGD DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:2841 asthma ISO RGD:736533 D RGD:5684966|PMID:12847242 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736532 D RGD:5684974|PMID:21169917 20120105 RGD DNA:polymorphism:intron (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736532 D RGD:36049753|PMID:24024195 20200716 RGD DNA:deletion:3'UTR: 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:3021 acute kidney failure ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:3044 food allergy ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:3310 atopic dermatitis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:1331525|PMID:15118671 20140211 GAD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:5684931|PMID:19863441 20120105 RGD DNA:insertion, polymorphism:3' utr:p.D543N (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by PMID:16103355|PMID:25741868 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:418 systemic scleroderma ISO RGD:736532 D RGD:5684940|PMID:17876529 20120105 RGD DNA:repeat, polymorphism:promoter, intron: (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:630 genetic disease ISO RGD:736532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:5684977|PMID:10857800 20120105 RGD DNA:repeat:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:5684971|PMID:10719815 20120105 RGD DNA:polymorphisms, deletion: :823C>T, p.D543N (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:736532 D RGD:5684967|PMID:12135431 20120105 RGD DNA:polymorphism:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:5684939|PMID:18340647 20120105 RGD DNA:transition, repeat:promoter:-237C>T (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:5684968|PMID:11929588 20120105 RGD DNA:polymorphism:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:5684938|PMID:18454481 20120105 RGD DNA:repeat, polymorphisms:promoter, intron:p.D543N (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:5684939|PMID:18340647 20120105 RGD DNA:insertion/deletion:3' utr (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:5684942|PMID:17131479 20120105 RGD DNA:polymorphism: :823C>T (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:5684952|PMID:16059695 20120105 RGD DNA:point mutation:promoter:-237C>T (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:5684968|PMID:11929588 20120105 RGD DNA:polymorphism:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:5684941|PMID:17385031 20120105 RGD DNA:polymorphisms:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:5684956|PMID:15757519 20120105 RGD DNA:polymorphism:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9000099 Experimental Colitis ISO RGD:736533 D RGD:5684934|PMID:19116231 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:736533 D RGD:5684969|PMID:11821237 20120105 RGD DNA:point mutation (mouse) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:736533 D RGD:5684943|PMID:17122779 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736532 D RGD:5684961|PMID:14960532 20120105 RGD DNA:polymorphisms, haplotype:promoter (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736532 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:736533 D RGD:5684962|PMID:14734525 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9005372 Inflammation ISO RGD:736533 D RGD:5684948|PMID:17035062 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:736532 D RGD:5684970|PMID:11791966 20120105 RGD DNA:insertion/deletion:3' utr (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736532 D RGD:5684928|PMID:21233146 20120105 RGD DNA:deletion:3' utr: (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736532 D RGD:5684930|PMID:20089160 20120105 RGD DNA:insertion/deletion (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:5684944|PMID:17067929 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:5684926|PMID:21524304 20120105 RGD DNA:SNP:intron:rs3731865 (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:5684932|PMID:19768110 20120105 RGD DNA:polymorphism: :274C>T (human) 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736533 D RGD:5684950|PMID:16550170 20120105 RGD 1601463 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736532 D RGD:5684955|PMID:15877293 20120105 RGD DNA:repeat:promoter (human) 1624201 Zfp715 zinc finger protein 715 gene DOID:630 genetic disease ISO RGD:2292093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1624205 Muc19 mucin 19, oligomeric gene DOID:0050589 inflammatory bowel disease ISO RGD:1343631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 1624205 Muc19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1343631 D RGD:7364736|PMID:18184611 20130925 RGD mRNA:decreased expression:conjunctival epithelial cell 1624205 Muc19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISS RGD:1320940 D RGD:13592920 20180518 MouseDO OMIM:270150 1624205 Muc19 mucin 19, oligomeric gene DOID:1324 lung cancer ISO RGD:1343631 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 1624205 Muc19 mucin 19, oligomeric gene DOID:5409 lung small cell carcinoma ISO RGD:1343631 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346272 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346272 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346272 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080541 hyperprolinemia ISO RGD:1346272 D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Hyperprolinemia 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25641190 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:7240710 20151209 OMIM 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:17576681|PMID:25741868|PMID:2624476|PMID:26822237|PMID:28492532|PMID:9536098|PMID:9700195 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:0080600 COVID-19 ISO RGD:1346272 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:1059 intellectual disability ISO RGD:1346272 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:630 genetic disease ISO RGD:1346272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1624206 Aldh4a1 aldehyde dehydrogenase 4 family, member A1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1624207 Iffo2 intermediate filament family orphan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 1624207 Iffo2 intermediate filament family orphan 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2301100 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 1624207 Iffo2 intermediate filament family orphan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:2301100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 1624207 Iffo2 intermediate filament family orphan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 1624207 Iffo2 intermediate filament family orphan 2 gene DOID:630 genetic disease ISO RGD:2301100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1624207 Iffo2 intermediate filament family orphan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1624215 Retnlb resistin like beta gene DOID:630 genetic disease ISO RGD:1345045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1626390 Atrip ATR interacting protein gene DOID:0050569 Seckel syndrome ISO RGD:1625848 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:25741868 1626390 Atrip ATR interacting protein gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1625848 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17846997|PMID:20131292|PMID:23602593|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28750028 1626390 Atrip ATR interacting protein gene DOID:0060386 Chilblain lupus ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 1626390 Atrip ATR interacting protein gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:9371916 1626390 Atrip ATR interacting protein gene DOID:13945 CADASIL ISO RGD:1625848 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 1626390 Atrip ATR interacting protein gene DOID:630 genetic disease ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 1626390 Atrip ATR interacting protein gene DOID:8725 vascular dementia ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:28492532|PMID:35307828 1626390 Atrip ATR interacting protein gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 1626390 Atrip ATR interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:35307828 1626390 Atrip ATR interacting protein gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:23602593|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:28492532 1626390 Atrip ATR interacting protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1625848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 1641833 Alc21 Alcohol consumption QTL 21 qtl DOID:1574 alcohol use disorder IAGP D RGD:1578304|PMID:16470346 20080924 RGD 1641833 Alc21 Alcohol consumption QTL 21 qtl DOID:1574 alcohol use disorder IDA D RGD:61483|PMID:9660316 20130130 RGD 1641851 SHR.PD-(D8Rat42-D8Arb23)/Cub strain DOID:1148 polydactyly IAGP D RGD:2312786|PMID:19191224 20170626 RGD 1641851 SHR.PD-(D8Rat42-D8Arb23)/Cub strain DOID:9006646 Metabolic Syndrome MODEL:spontaneous IAGP D RGD:1580747|PMID:16045236 20080924 RGD 1641851 SHR.PD-(D8Rat42-D8Arb23)/Cub strain DOID:9007692 Insulin Resistance IAGP D RGD:1580747|PMID:16045236 20080924 RGD 1641855 BBDP.WF-(D8Rat73-D8Rat20)/Sunn strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:1624306|PMID:17389329 20070829 RGD 1641856 P.NP-(D4Rat119-D4Rat55)/Iusm strain DOID:1574 alcohol use disorder NOT IAGP D RGD:1578304|PMID:16470346 20080924 RGD 1641857 BBDP.WF-(D8Rat16-D8Sunn1467)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:1624306|PMID:17389329 20200302 RGD 1641862 F344-ApcPirc/Uwm strain DOID:0050424 familial adenomatous polyposis IMP D RGD:1601201|PMID:17360473 20080924 RGD 1641862 F344-ApcPirc/Uwm strain DOID:2355 anemia IMP D RGD:1601201|PMID:17360473 20080924 RGD 1641862 F344-ApcPirc/Uwm strain DOID:9002245 Intestinal Neoplasms IMP D RGD:1601201|PMID:17360473 20200316 RGD 1641862 F344-ApcPirc/Uwm strain DOID:9002928 Colonic Neoplasms IMP D RGD:1601201|PMID:17360473 20080924 RGD 1641862 F344-ApcPirc/Uwm strain DOID:9004271 Colonic Polyps IMP D RGD:1601201|PMID:17360473 20080924 RGD 1641862 F344-ApcPirc/Uwm strain DOID:9004594 Jaw Neoplasms penetrance IMP D RGD:1601201|PMID:17360473 20200316 RGD 1641864 WF/CrCrli strain DOID:0050860 colorectal adenoma penetrance IAGP XCO:0000393 D RGD:1625309|PMID:17510081 20200316 RGD 1641865 SD-Brca2m1Uwm strain DOID:11994 atrophy of testis IMP D RGD:727990|PMID:12754522 20180430 RGD 1641865 SD-Brca2m1Uwm strain DOID:162 cancer IMP D RGD:1599505|PMID:16964288 20210426 RGD 1641865 SD-Brca2m1Uwm strain DOID:5223 infertility IMP D RGD:727990|PMID:12754522 20180430 RGD 1641865 SD-Brca2m1Uwm strain DOID:83 cataract IMP D RGD:1599505|PMID:16964288 20210426 RGD 1641867 Iusm:P alcohol-preferring strain DOID:9001981 Weight Loss IAGP D RGD:2317896|PMID:20200994 20100430 RGD as compared to NP/Iusm 1641868 WF.BBDR-(D4Rat93-D4Rat228)/Wor strain DOID:9744 type 1 diabetes mellitus penetrance IAGP XCO:0000231,XCO:0000235 D RGD:1600776|PMID:17376830 20080924 RGD 1641870 BBDP.WF-(D8Rat73-D8Rat121)/Sunn strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:1624306|PMID:17389329 20070829 RGD 1641874 BBDP.WF-(D8Rat73-D8Rat90)/Sunn strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:1624306|PMID:17389329 20070829 RGD 1641875 SHR-Chr YBN/Cub strain DOID:9006024 Hypotension induced IAGP XCO:0000022 D RGD:619661|PMID:11304517 20080924 RGD compared to SHR 1641876 BBDP.WF-(D8Rat73-D8Sunn1467)/Sunn strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:1624306|PMID:17389329 20070829 RGD 1641877 NP.P-(D4Rat119-D4Rat55)/Iusm strain DOID:9001981 Weight Loss IAGP D RGD:2317896|PMID:20200994 20100430 RGD as compared to NP/Iusm 1641885 Alcrsp9 Alcohol response QTL 9 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641887 Alcrsp14 Alcohol response QTL 14 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641889 Colcr6 Colorectal carcinoma resistance QTL 6 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641891 Alcrsp17 Alcohol response QTL 17 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641893 Alcrsp7 Alcohol response QTL 7 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641894 Alcrsp12 Alcohol response QTL 12 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641895 Bp298 Blood pressure QTL 298 qtl DOID:9006024 Hypotension IDA D RGD:1600255|PMID:17327494 20070824 RGD 1641895 Bp298 Blood pressure QTL 298 qtl DOID:9007102 Myocardial Ischemia IDA D RGD:1600255|PMID:17327494 20070824 RGD 1641897 Alcrsp1 Alcohol response QTL 1 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641897 Alcrsp1 Alcohol response QTL 1 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 1641898 Colcr4 Colorectal carcinoma resistance QTL4 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641900 Alcrsp11 Alcohol response QTL 11 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641901 Alcrsp6 Alcohol response QTL 6 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641902 Colcr7 Colorectal carcinoma resistance QTL 7 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641903 Alcrsp3 Alcohol response QTL 3 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641904 Alcrsp4 Alcohol response QTL 4 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641905 Colcr1 Colorectal carcinoma resistance QTL 1 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641906 Alcrsp16 Alcohol response QTL 16 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641910 Colcr3 Colorectal carcinoma resistance QTL 3 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641911 Alcrsp13 Alcohol response QTL 13 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641912 Alcrsp18 Alcohol response QTL 18 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641913 Colcr2 Colorectal carcinoma resistance QTL 2 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641915 Colcr9 Colorectal carcinoma resistance QTL 9 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641917 Colcr5 Colorectal carcinoma resistance QTL 5 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641918 Alcrsp15 Alcohol response QTL 16 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641919 Alc22 Alcohol consumption QTL 22 qtl DOID:1574 alcohol use disorder IAGP D RGD:1578304|PMID:16470346 20080924 RGD 1641920 Colcs1 Colorectal carcinoma susceptibility QTL 1 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641922 Alcrsp8 Alcohol response QTL 8 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641923 Colcr8 Colorectal carcinoma resistance QTL 8 qtl DOID:9008443 Colorectal Neoplasms IAGP D RGD:1625309|PMID:17510081 20080924 RGD 1641925 Alcrsp2 Alcohol response QTL 2 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641927 Alcrsp10 Alcohol response QTL 10 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1641928 Alcrsp5 Alcohol response QTL 5 qtl DOID:251 alcohol-induced mental disorder susceptibility IDA D RGD:1334439|PMID:15608595 20070824 RGD 1642017 BBDR/WorBrm strain DOID:9744 type 1 diabetes mellitus MODEL: induced IAGP D RGD:1624306|PMID:17389329 20070829 RGD 1642017 BBDR/WorBrm strain DOID:9744 type 1 diabetes mellitus MODEL: induced IAGP XCO:0000238 D RGD:2313207|PMID:1658938 20090914 RGD Kilham's rat virus 1642018 BBDP/WorBrm strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:1624306|PMID:17389329 20070829 RGD compared to BBDP.WF-(D8Rat73-D8Sunn1467)(D13Rat124-D13Mgh5)/Sunn 1642018 BBDP/WorBrm strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:21201284|PMID:1446573 20200302 RGD compared to treated group 1642118 Cxcr6 C-X-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1352090 D RGD:5135279|PMID:21303517 20110719 RGD protein:increased expression:skin, endothelial cell 1642118 Cxcr6 C-X-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1352090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642118 Cxcr6 C-X-C motif chemokine receptor 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 1642414 Mroh1 maestro heat-like repeat family member 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1642414 Mroh1 maestro heat-like repeat family member 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 1642414 Mroh1 maestro heat-like repeat family member 1 gene DOID:4621 holoprosencephaly ISO RGD:2302193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 1642414 Mroh1 maestro heat-like repeat family member 1 gene DOID:630 genetic disease ISO RGD:2302193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642416 Nudcd3 NudC domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344595 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1642416 Nudcd3 NudC domain containing 3 gene DOID:630 genetic disease ISO RGD:1344595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642416 Nudcd3 NudC domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344595 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1603369 D RGD:7240710 20140911 OMIM 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1603369 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome PMID:23620220|PMID:25558065|PMID:25741868|PMID:26842963|PMID:29796286|PMID:30296593|PMID:32214227|PMID:32860008 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1603369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:1059 intellectual disability ISO RGD:1603369 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:10907 microcephaly ISO RGD:1603369 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1603369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:630 genetic disease ISO RGD:1603369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 1642417 Adat3 adenosine deaminase, tRNA-specific 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603369 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1642418 Pnrc2 proline-rich nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:1351134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642418 Pnrc2 proline-rich nuclear receptor coactivator 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 1642420 Nadk NAD kinase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1642420 Nadk NAD kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 1642420 Nadk NAD kinase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606514 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1642420 Nadk NAD kinase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606514 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 1642420 Nadk NAD kinase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606514 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 1642420 Nadk NAD kinase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1642420 Nadk NAD kinase gene DOID:0111934 immunodeficiency 38 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1642420 Nadk NAD kinase gene DOID:0111935 immunodeficiency 16 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1642420 Nadk NAD kinase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606514 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 1642420 Nadk NAD kinase gene DOID:630 genetic disease ISO RGD:1606514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642420 Nadk NAD kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606514 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1642420 Nadk NAD kinase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606514 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 1642420 Nadk NAD kinase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:14330 Parkinson's disease ISO RGD:1350005 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:2340 craniosynostosis ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:5419 schizophrenia ISO RGD:1350005 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:630 genetic disease ISO RGD:1350005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350005 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 1642421 Ceacam6 CEA cell adhesion molecule 6 gene DOID:9269 maple syrup urine disease ISO RGD:1350005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 1642423 LOC100125367 hypothetical protein LOC100125367 gene DOID:0060239 Van der Woude syndrome ISO RGD:1606707 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:14618417 1642423 LOC100125367 hypothetical protein LOC100125367 gene DOID:1540 parathyroid carcinoma ISO RGD:1606707 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 1642423 LOC100125367 hypothetical protein LOC100125367 gene DOID:630 genetic disease ISO RGD:1606707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642423 LOC100125367 hypothetical protein LOC100125367 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606707 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 1642424 LOC100125364 hypothetical protein LOC100125364 gene DOID:630 genetic disease ISO RGD:1348768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642425 Fbxl13 F-box and leucine-rich repeat protein 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353687 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 1642425 Fbxl13 F-box and leucine-rich repeat protein 13 gene DOID:630 genetic disease ISO RGD:1353687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642426 LOC100125362 hypothetical protein LOC100125362 gene DOID:1059 intellectual disability ISO RGD:1604683 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1642426 LOC100125362 hypothetical protein LOC100125362 gene DOID:12704 ataxia telangiectasia ISO RGD:1604683 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 1642426 LOC100125362 hypothetical protein LOC100125362 gene DOID:630 genetic disease ISO RGD:1604683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642426 LOC100125362 hypothetical protein LOC100125362 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604683 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 1642427 Zfp867 zinc finger protein 867 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1346780 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 1642427 Zfp867 zinc finger protein 867 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1346780 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 1642427 Zfp867 zinc finger protein 867 gene DOID:0111254 glutaric acidemia I ISO RGD:1346780 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 1642427 Zfp867 zinc finger protein 867 gene DOID:3413 alpha-mannosidosis ISO RGD:1346780 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 1642427 Zfp867 zinc finger protein 867 gene DOID:630 genetic disease ISO RGD:1346780 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642515 Rs1 retinoschisin 1 gene DOID:0050562 West syndrome ISO RGD:1347162 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 1642515 Rs1 retinoschisin 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1642515 Rs1 retinoschisin 1 gene DOID:0060763 X-linked juvenile retinoschisis 1 ISO RGD:1347162 D RGD:7240710 20180307 OMIM 1642515 Rs1 retinoschisin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347162 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 1642515 Rs1 retinoschisin 1 gene DOID:0060825 Christianson syndrome ISO RGD:1347162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25741868|PMID:26467025|PMID:28492532 1642515 Rs1 retinoschisin 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1347162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:10533068|PMID:15499549|PMID:16813600|PMID:17304053|PMID:17546640|PMID:17576681|PMID:18076117|PMID:18414213|PMID:18564362|PMID:19241098|PMID:19428276|PMID:19780792|PMID:20479760|PMID:20493745|PMID:21160487|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23184456|PMID:23756444|PMID:23828526|PMID:25315662|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26467025|PMID:27824329|PMID:28492532|PMID:29264392|PMID:29655203|PMID:30624022|PMID:30945684|PMID:9536098 1642515 Rs1 retinoschisin 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1642515 Rs1 retinoschisin 1 gene DOID:12849 autistic disorder ISO RGD:1347162 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 1642515 Rs1 retinoschisin 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1347162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 1642515 Rs1 retinoschisin 1 gene DOID:630 genetic disease ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21775177|PMID:23288992|PMID:23756444|PMID:25741868|PMID:26112015|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29851975|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16088326|PMID:21738583 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:1600147|PMID:9326935 20141020 RGD 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:1600148|PMID:9618178 20141020 RGD 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10679210|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:9587801|PMID:22245991 20141020 RGD DNA:missense mutations, nonsense mutation:multiple 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1347162 D RGD:9587805|PMID:10220153 20141020 RGD DNA:mutations:multiple 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis ISO RGD:1557176 D RGD:9587798|PMID:18245825 20141020 RGD 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis treatment ISO RGD:1347162 D RGD:9587800|PMID:16027044 20141020 RGD 1642515 Rs1 retinoschisin 1 gene DOID:8465 retinoschisis treatment ISO RGD:1557176 D RGD:9587803|PMID:15326152 20141020 RGD 1642515 Rs1 retinoschisin 1 gene DOID:8501 fundus dystrophy ISO RGD:1347162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 1642515 Rs1 retinoschisin 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1347162 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 1642515 Rs1 retinoschisin 1 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1347162 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19428276|PMID:28492532 1642515 Rs1 retinoschisin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1347162 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 1642515 Rs1 retinoschisin 1 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1347162 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 1642515 Rs1 retinoschisin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347162 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:0080600 COVID-19 ISO RGD:1351881 D RGD:9068941 20230309 RGD mRNA:decreased expression:CD14 monocytes (human) PMID:32377375|REF_RGD_ID:32716422 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:0080600 COVID-19 ISO RGD:1351881 D RGD:9068941 20230309 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:630 genetic disease ISO RGD:1351881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642516 Mt1-ps3 metallothionein 1, pseudogene 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351881 D RGD:11554173 20230314 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 1642690 LA-cp/NJcr strain DOID:1168 familial hyperlipidemia IAGP D RGD:1642391|PMID:7600124 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:1287 cardiovascular system disease IAGP D RGD:1642389|PMID:17375078 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:1642389|PMID:17375078 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:1936 atherosclerosis MODEL: spontaneous IAGP D RGD:1642391|PMID:7600124 20200323 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:1936 atherosclerosis MODEL: spontaneous IAGP D RGD:21408581|PMID:20705262 20200323 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:1936 atherosclerosis treatment IAGP D RGD:21408581|PMID:20705262 20200323 RGD 1642690 LA-cp/NJcr strain DOID:2018 hyperinsulinism IAGP D RGD:1642391|PMID:7600124 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:9002916 Hyperphagia IAGP D RGD:1642389|PMID:17375078 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:9006646 Metabolic Syndrome IAGP D RGD:1642389|PMID:17375078 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:1642391|PMID:7600124 20071009 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:21408581|PMID:20705262 20200323 RGD compared to lean LA/NJcr+/+ rats 1642690 LA-cp/NJcr strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:21408584|PMID:11978655 20200323 RGD compared to lean LA/NJcr+/+ rats 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1345480 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1345480 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:2746 glycogen storage disease V ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1345480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 1642882 Rab1b RAB1B, member RAS oncogene family gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 1642907 Mln motilin gene DOID:0050553 JMP syndrome ISO RGD:1347043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 1642907 Mln motilin gene DOID:0060500 drug allergy ISO RGD:1347043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 1642907 Mln motilin gene DOID:630 genetic disease ISO RGD:1347043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 1642968 SS.LEW-(D10Mco84-D10Rat58)/Mco strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:1642602|PMID:17893371 20071116 RGD 1642968 SS.LEW-(D10Mco84-D10Rat58)/Mco strain DOID:9002928 Colonic Neoplasms induced IAGP XCO:0000646 D RGD:11353863|PMID:27073989 20160726 RGD 1642976 Bp301 Blood pressure QTL 301 qtl DOID:10763 hypertension IDA D RGD:1642602|PMID:17893371 20071116 RGD 1642980 Bp300 Blood pressure QTL 300 qtl DOID:9006024 Hypotension IDA D RGD:1642602|PMID:17893371 20071116 RGD 1642982 Bp302 Blood pressure QTL 302 qtl DOID:9006024 Hypotension IDA D RGD:1642602|PMID:17893371 20071116 RGD 1643004 Pain2 Pain QTL 2 qtl DOID:9000641 Pain IDA D RGD:1643003|PMID:17560719 20071117 RGD 1643006 Pain1 Pain QTL 1 qtl DOID:9000641 Pain IDA D RGD:1643003|PMID:17560719 20071117 RGD 2003 Asip agouti signaling protein gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:10123 pigmentation disease ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:8146154|PMID:32937126 2003 Asip agouti signaling protein gene DOID:14566 disease of cellular proliferation ISO RGD:69200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 2003 Asip agouti signaling protein gene DOID:161 keratosis ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:1909 melanoma ISO RGD:69199 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:18641652|PMID:21983785 2003 Asip agouti signaling protein gene DOID:2513 basal cell carcinoma ISO RGD:69199 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 2003 Asip agouti signaling protein gene DOID:2723 dermatitis ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:2843 long QT syndrome ISO RGD:69199 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 2003 Asip agouti signaling protein gene DOID:630 genetic disease ISO RGD:69199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2003 Asip agouti signaling protein gene DOID:9000197 Edema ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:9001276 Failure to Thrive ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:9002053 Furunculosis ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:9002221 Hyperplasia ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 2003 Asip agouti signaling protein gene DOID:9004464 Skin Neoplasms ISO RGD:69199 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 2003 Asip agouti signaling protein gene DOID:9007188 Liver Neoplasms ISO RGD:69200 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:15175105 2003 Asip agouti signaling protein gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:69199 D RGD:7240710 20221214 OMIM 2003 Asip agouti signaling protein gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:69199 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 2003 Asip agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 2003 Asip agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:2314006|PMID:10426381 20091030 RGD associated with Obesity;DNA:mutation (mouse) 2003 Asip agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69199 D RGD:2313999|PMID:14633851 20091030 RGD mRNA:increased expression:adipose tissue 2003 Asip agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8146154 2003 Asip agouti signaling protein gene DOID:9970 obesity ISO RGD:69200 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:1473152|PMID:8146154|PMID:25447408|PMID:25448685|PMID:32937126 2003 Asip agouti signaling protein gene DOID:9970 obesity susceptibility ISO RGD:69200 D RGD:1625724|PMID:7987393 20070627 RGD DNA, mRNA:deletion, insertions, increased expression: multiple organs 2004 A2m alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma IEP D RGD:1358261|PMID:15509519 19990101 RGD mRNA,protein:increased expression:liver: 2004 A2m alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 2004 A2m alpha-2-macroglobulin gene DOID:0080600 COVID-19 ISO RGD:735738 D RGD:9068941 20220825 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2004 A2m alpha-2-macroglobulin gene DOID:0080600 COVID-19 severity ISO RGD:735738 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNPs: : 2004 A2m alpha-2-macroglobulin gene DOID:10113 trypanosomiasis IEP D RGD:10046041|PMID:17722867 20150702 RGD 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:10046012|PMID:14675603 20150701 RGD DNA:insertion/deletion, substitution 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:10046016|PMID:12966032 20150701 RGD DNA:deletion, polymorphisms, haplotypes: :multiple 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9697696|PMID:9811940|PMID:15023809 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:1302534|PMID:9697696 19990101 RGD DNA:deletion:splice junction: 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:10046015|PMID:10936700 20150701 RGD DNA:polymorphism: :p.I1000V (human) 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:10046016|PMID:12966032 20150701 RGD DNA:polymorphisms: :multiple 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:1300322|PMID:10319853 19990101 RGD 2004 A2m alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease onset ISO RGD:735738 D RGD:10046014|PMID:12133586 20150701 RGD DNA:polymorphism: :p.I1000V (human) 2004 A2m alpha-2-macroglobulin gene DOID:10754 otitis media treatment ISO RGD:8779469 D RGD:9068941 20200609 RGD PMID:2459981|PMID:2473673|REF_RGD_ID:11553864|REF_RGD_ID:11553918 2004 A2m alpha-2-macroglobulin gene DOID:10976 membranous glomerulonephritis IEP D RGD:10046046|PMID:9453001 20150702 RGD protein:increased expression:serum 2004 A2m alpha-2-macroglobulin gene DOID:11372 megacolon ISO RGD:735738 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2004 A2m alpha-2-macroglobulin gene DOID:114 heart disease ISO RGD:735738 D RGD:10046031|PMID:20005173 20150702 RGD associated with HIV Infections;protein:increased expression:serum 2004 A2m alpha-2-macroglobulin gene DOID:11506 suppurative otitis media ISO RGD:8779469 D RGD:9068941 20200609 RGD PMID:1696441|REF_RGD_ID:11556250 2004 A2m alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome IEP D RGD:10046046|PMID:9453001 20150702 RGD protein:increased expression:serum 2004 A2m alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 2004 A2m alpha-2-macroglobulin gene DOID:13208 background diabetic retinopathy treatment ISO RGD:735738 D RGD:10046010|PMID:10848441 20150701 RGD 2004 A2m alpha-2-macroglobulin gene DOID:14115 toxic shock syndrome treatment IDA D RGD:10046036|PMID:2424486 20150702 RGD 2004 A2m alpha-2-macroglobulin gene DOID:14330 Parkinson's disease ISO RGD:735738 D RGD:1331525|PMID:15118671 19990101 GAD 2004 A2m alpha-2-macroglobulin gene DOID:14330 Parkinson's disease onset ISO RGD:735738 D RGD:10046014|PMID:12133586 20150701 RGD DNA:polymorphism: :p.I1000V (human) 2004 A2m alpha-2-macroglobulin gene DOID:2320 obstructive lung disease ISO RGD:735738 D RGD:1300321|PMID:2475424 19990101 RGD 2004 A2m alpha-2-macroglobulin gene DOID:2377 multiple sclerosis ISO RGD:735738 D RGD:9068941 20220825 RGD PMID:11498265|REF_RGD_ID:1549857 2004 A2m alpha-2-macroglobulin gene DOID:3021 acute kidney failure ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 2004 A2m alpha-2-macroglobulin gene DOID:3526 cerebral infarction disease_progression ISO RGD:735738 D RGD:13702087|PMID:28266892 20180717 RGD 2004 A2m alpha-2-macroglobulin gene DOID:5082 liver cirrhosis ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 2004 A2m alpha-2-macroglobulin gene DOID:583 hemolytic anemia IDA D RGD:704364|PMID:11952820 19990101 RGD 2004 A2m alpha-2-macroglobulin gene DOID:630 genetic disease ISO RGD:735738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2004 A2m alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma IEP D RGD:1358261|PMID:15509519 19990101 RGD mRNA,protein:increased expression:liver: 2004 A2m alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 2004 A2m alpha-2-macroglobulin gene DOID:7148 rheumatoid arthritis ISO RGD:735738 D RGD:1331525|PMID:15118671 19990101 GAD 2004 A2m alpha-2-macroglobulin gene DOID:8283 peritonitis IEP D RGD:1598512|PMID:16538883 20061201 RGD 2004 A2m alpha-2-macroglobulin gene DOID:850 lung disease ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2475424 2004 A2m alpha-2-macroglobulin gene DOID:893 Wilson disease ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 2004 A2m alpha-2-macroglobulin gene DOID:9000972 Fever IEP D RGD:10046042|PMID:2460123 20150702 RGD 2004 A2m alpha-2-macroglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2004 A2m alpha-2-macroglobulin gene DOID:9002457 Experimental Arthritis IEP D RGD:10046032|PMID:6163339 20150702 RGD protein:increased expression:serum 2004 A2m alpha-2-macroglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:10046021|PMID:1710603 20150701 RGD 2004 A2m alpha-2-macroglobulin gene DOID:9002928 Colonic Neoplasms ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2004 A2m alpha-2-macroglobulin gene DOID:9003049 Femur Head Necrosis IEP D RGD:10046018|PMID:20579363 20150701 RGD mRNA:increased expression:head of femur 2004 A2m alpha-2-macroglobulin gene DOID:9003936 Cardiomegaly IDA D RGD:1549856|PMID:12494268 20061201 RGD 2004 A2m alpha-2-macroglobulin gene DOID:9004484 Sepsis IEP D RGD:10046033|PMID:15167684 20150702 RGD mRNA:increased expression:liver 2004 A2m alpha-2-macroglobulin gene DOID:9004484 Sepsis IEP D RGD:1598509|PMID:9843780 20061201 RGD 2004 A2m alpha-2-macroglobulin gene DOID:9005172 Lung Neoplasms ISO RGD:735738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 2004 A2m alpha-2-macroglobulin gene DOID:9005372 Inflammation IEP D RGD:10046045|PMID:6202298 20150702 RGD 2004 A2m alpha-2-macroglobulin gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:10046044|PMID:21742475 20150702 RGD associated with Diabetes Mellitus, Experimental 2004 A2m alpha-2-macroglobulin gene DOID:9007271 Hypoalbuminemia IEP D RGD:10046046|PMID:9453001 20150702 RGD protein:increased expression:serum 2004 A2m alpha-2-macroglobulin gene DOID:9007730 Burns IEP D RGD:1598513|PMID:14960360 20061201 RGD 2004 A2m alpha-2-macroglobulin gene DOID:9008821 Otitis Media with Effusion ISO RGD:8779469 D RGD:9068941 20200609 RGD PMID:2454602|REF_RGD_ID:11560528 2006 Aanat aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12736803 2006 Aanat aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:1300232|PMID:12736803 19990101 RGD DNA:missense mutation:cds:p.A129T(human) 2006 Aanat aralkylamine N-acetyltransferase gene DOID:0111141 delayed sleep phase syndrome ISO RGD:736736 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:12736803 2006 Aanat aralkylamine N-acetyltransferase gene DOID:630 genetic disease ISO RGD:736736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2006 Aanat aralkylamine N-acetyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2301030|PMID:18624957 20080923 RGD 2006 Aanat aralkylamine N-acetyltransferase gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2301037|PMID:16441550 20080923 RGD mRNA, protein:increased expression, decreased activity:pineal gland 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:7240710 20170301 OMIM 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 PMID:25168382|PMID:25741868|PMID:28492532 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:630 genetic disease ISO RGD:736620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome ISO RGD:736620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1301993 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome ISO RGD:736620 D RGD:1598658|PMID:1301993 20061209 RGD 2007 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome susceptibility ISO RGD:736620 D RGD:9068941 20200609 RGD PMID:1301993|REF_RGD_ID:1598658 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733759 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISS RGD:10056 D RGD:13592920 20180518 MouseDO OMIM:201475 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:14557 primary pulmonary hypertension ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733759 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:630 genetic disease ISO RGD:733759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733759 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency PMID:25741868 2011 Acadl acyl-CoA dehydrogenase, long chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733759 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:7240710 20130425 OMIM 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:10767181|PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:11673361|PMID:1356169|PMID:1361190|PMID:1447668|PMID:15171998|PMID:15171999|PMID:15479234|PMID:1570195|PMID:15832312|PMID:15915086|PMID:1594327|PMID:1601002|PMID:16121256|PMID:16199547|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:16972171|PMID:17273963|PMID:1729890|PMID:1756601|PMID:17576681|PMID:18075239|PMID:18188679|PMID:18241067|PMID:18450854|PMID:18767270|PMID:18836889|PMID:1902818|PMID:19064330|PMID:19156839|PMID:19224950|PMID:19649258|PMID:19699128|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:20437613|PMID:2046713|PMID:20567907|PMID:20580581|PMID:21083904|PMID:21228398|PMID:21239873|PMID:21483992|PMID:21704015|PMID:21929648|PMID:22166308|PMID:2251268|PMID:22542437|PMID:22630369|PMID:22683754|PMID:22796001|PMID:22848008|PMID:22975760|PMID:22995991|PMID:23028790|PMID:23095120|PMID:23151387|PMID:23430840|PMID:23509891|PMID:23546811|PMID:23574375|PMID:23700290|PMID:23757202|PMID:23798014|PMID:23810226|PMID:23829193|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24294134|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25503862|PMID:25640679|PMID:25689098|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26798524|PMID:26947917|PMID:26990548|PMID:27308838|PMID:27477829|PMID:27751224|PMID:27843123|PMID:27856190|PMID:27943070|PMID:27976856|PMID:28492532|PMID:28581210|PMID:29247206|PMID:29285339|PMID:29350094|PMID:29519241|PMID:30626930|PMID:30675864|PMID:30838026|PMID:31012112|PMID:31033143|PMID:31620161|PMID:31737040|PMID:31836396|PMID:32778825|PMID:32793418|PMID:33123633|PMID:33514801|PMID:33580884|PMID:33841490|PMID:34539730|PMID:34578803|PMID:3786030|PMID:6434827|PMID:7603790|PMID:7633427|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:7929823|PMID:8102510|PMID:8104486|PMID:8198141|PMID:8215568|PMID:8535441|PMID:8682492|PMID:9158144|PMID:9536098|PMID:9797589|PMID:9882619 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10047124|PMID:23076603 20150710 RGD 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:630 genetic disease ISO RGD:735259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:1361190|PMID:1447668|PMID:15479234|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18188679|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:2046713|PMID:21228398|PMID:22166308|PMID:2251268|PMID:22630369|PMID:22848008|PMID:22975760|PMID:23028790|PMID:23509891|PMID:23574375|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27308838|PMID:27477829|PMID:27976856|PMID:28492532|PMID:29247206|PMID:30626930|PMID:31012112|PMID:32778825|PMID:33580884|PMID:33841490|PMID:3786030|PMID:6434827|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9003370 Dyslipidemias ISO RGD:735259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia PMID:11263545|PMID:11346377|PMID:11349232|PMID:11486912|PMID:1361190|PMID:1447668|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20333879|PMID:20434380|PMID:2046713|PMID:21228398|PMID:2251268|PMID:22630369|PMID:22975760|PMID:23028790|PMID:23509891|PMID:23574375|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24082139|PMID:24623196|PMID:24718418|PMID:24799540|PMID:24966162|PMID:24998633|PMID:25087612|PMID:25333063|PMID:25741868|PMID:25763512|PMID:25940036|PMID:26215884|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27976856|PMID:28492532|PMID:3786030|PMID:6434827|PMID:7652482|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9004657 Weight Gain ISO RGD:735259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:735259 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:11673361|PMID:19780764|PMID:20434380|PMID:23028790|PMID:24966162|PMID:25741868|PMID:27308838|PMID:28492532 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9007874 Liver Failure ISO RGD:735259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9090694 2012 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9970 obesity ISO RGD:735259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:10907 microcephaly ISO RGD:735869 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:12849 autistic disorder ISO RGD:735869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17883863 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:1826 epilepsy ISO RGD:735869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30626930|PMID:36147814 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:2340 craniosynostosis ISO RGD:735869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:630 genetic disease ISO RGD:735869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15615815|PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30730842 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:7240710 20130221 OMIM 2013 Acadsb acyl-CoA dehydrogenase, short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:10832746|PMID:11013134|PMID:12837870|PMID:15615815|PMID:16199547|PMID:16317551|PMID:17576681|PMID:17945527|PMID:20547083|PMID:23712021|PMID:25741868|PMID:26284228|PMID:28492532|PMID:30626930|PMID:30730842|PMID:31555323|PMID:31785789|PMID:36147814|PMID:9536098 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0060041 autism spectrum disorder ISO RGD:735407 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0060067 Pearson syndrome ISO RGD:735407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:25741868|PMID:28492532 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20060901 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:7240710 20130221 OMIM 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: VLCAD deficiency | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:10384387|PMID:10431122|PMID:10518280|PMID:10529389|PMID:10738914|PMID:10790204|PMID:11158518|PMID:11349232|PMID:11590124|PMID:11914034|PMID:12122118|PMID:12208138|PMID:12213615|PMID:12893739|PMID:14517516|PMID:14728674|PMID:15210884|PMID:16199547|PMID:16435213|PMID:16443431|PMID:16464760|PMID:16488171|PMID:16860141|PMID:16895136|PMID:16950999|PMID:16982043|PMID:17206456|PMID:17374501|PMID:17514507|PMID:17576681|PMID:17999356|PMID:18227065|PMID:18414213|PMID:18670371|PMID:19208414|PMID:19327992|PMID:20056241|PMID:2006090|PMID:20060901|PMID:20107901|PMID:20301763|PMID:20480395|PMID:20547398|PMID:20694756|PMID:21228398|PMID:21378393|PMID:21429517|PMID:21531094|PMID:21814341|PMID:21932095|PMID:22841441|PMID:22847164|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23430950|PMID:23480858|PMID:23700290|PMID:23757202|PMID:23774949|PMID:23798014|PMID:23867825|PMID:23966064|PMID:24033266|PMID:24263034|PMID:24305961|PMID:24330285|PMID:24503138|PMID:24801231|PMID:24898617|PMID:25085675|PMID:25087612|PMID:25214167|PMID:25242572|PMID:25338548|PMID:25456746|PMID:25525159|PMID:25652019|PMID:25655073|PMID:25741868|PMID:25811481|PMID:25834949|PMID:25843429|PMID:26182500|PMID:26385305|PMID:26453363|PMID:26602010|PMID:26743058|PMID:26881790|PMID:26927351|PMID:26937394|PMID:27029698|PMID:27209629|PMID:27246109|PMID:27538624|PMID:27884173|PMID:27943070|PMID:27995075|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28747690|PMID:28755339|PMID:28755359|PMID:28871440|PMID:29111448|PMID:29268767|PMID:2951924|PMID:29552494|PMID:29961767|PMID:30023301|PMID:30194637|PMID:30950014|PMID:31031081|PMID:31191348|PMID:31497477|PMID:31620161|PMID:31737040|PMID:31794763|PMID:31983732|PMID:32054689|PMID:32061778|PMID:32276429|PMID:32518924|PMID:32558070|PMID:32581362|PMID:32655480|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32798077|PMID:32860008|PMID:32928639|PMID:32954689|PMID:33123633|PMID:33150772|PMID:33610471|PMID:33986768|PMID:33996489|PMID:34184355|PMID:34194748|PMID:34426522|PMID:34437764|PMID:34704412|PMID:35281659|PMID:35400565|PMID:4022672|PMID:609575|PMID:7479827|PMID:7668252|PMID:7769092|PMID:8554073|PMID:8739957|PMID:8845838|PMID:9461620|PMID:9536098|PMID:9546340|PMID:9599005|PMID:9709714|PMID:9839948|PMID:9973285 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10047121|PMID:22569299 20150710 RGD 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10047124|PMID:23076603 20150710 RGD 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735407 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735407 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0111254 glutaric acidemia I ISO RGD:10058 D RGD:10047115|PMID:15840571 20150709 RGD 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:735407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:25741868 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:1059 intellectual disability ISO RGD:735407 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:10652 Alzheimer's disease ISO RGD:735407 D RGD:10047114|PMID:25260493 20150709 RGD protein:decreased expression:brain 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:12177 common variable immunodeficiency ISO RGD:735407 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:12930 dilated cardiomyopathy ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21932095|PMID:25087612|PMID:25741868|PMID:26385305|PMID:27209629|PMID:28468868|PMID:28492532|PMID:31031081|PMID:34437764|PMID:35281659 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:2729 dyskeratosis congenita ISO RGD:735407 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:423 myopathy ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:14517516|PMID:19327992|PMID:20060901|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:9973285 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735407 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:630 genetic disease ISO RGD:735407 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077518|PMID:11590124|PMID:12208138|PMID:12213615|PMID:14517516|PMID:16860141|PMID:17374501|PMID:17576681|PMID:17999356|PMID:19208414|PMID:19327992|PMID:20107901|PMID:20301763|PMID:21429517|PMID:21932095|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23480858|PMID:23798014|PMID:23867825|PMID:24033266|PMID:24503138|PMID:24801231|PMID:25085675|PMID:25214167|PMID:25741868|PMID:26385305|PMID:26743058|PMID:26937394|PMID:27209629|PMID:27246109|PMID:28492532|PMID:28747690|PMID:28871440|PMID:30194637|PMID:30504930|PMID:31031081|PMID:32054689|PMID:32061778|PMID:32518924|PMID:32778825|PMID:32928639|PMID:32954689|PMID:34194748|PMID:34564390|PMID:35281659|PMID:35400565|PMID:7479827|PMID:8739957|PMID:8845838|PMID:9536098|PMID:9973285 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735407 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9000884 Rhabdomyolysis ISO RGD:735407 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:11158518|PMID:15210884|PMID:20060901|PMID:24801231|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9546340|PMID:9973285 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9001103 Heat Stress Disorders IEP D RGD:8553966|PMID:17374454 20150710 RGD associated with Endotoxemia 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9002669 Hypoxia ISO RGD:735407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:25741868|PMID:27618451 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10058 D RGD:10047114|PMID:25260493 20150709 RGD protein:decreased expression:brain 2014 Acadvl acyl-CoA dehydrogenase, very long chain gene DOID:9006646 Metabolic Syndrome treatment IDA D RGD:10047118|PMID:25191539 20150710 RGD 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:0050700 cardiomyopathy ISS RGD:737089 D RGD:13592920 20180518 MouseDO 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:305 carcinoma ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:630 genetic disease ISO RGD:1342971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9005587 Starvation IEP D RGD:1625742|PMID:15811777 20070628 RGD mRNA:increased expression:liver 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342971 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342971 D RGD:1625735|PMID:16788709 20070628 RGD mRNA:decreased expression:subcutaneous adipose tissue 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9970 obesity IEP D RGD:1625737|PMID:1543733 20070628 RGD mRNA, protein:increased expression:adipose tissue, liver 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2015 Acsl1 acyl-CoA synthetase long-chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:1625735|PMID:16788709 20070628 RGD mRNA:decreased expression:subcutaneous adipose tissue 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:737017 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:1184 nephrotic syndrome IEP D RGD:2307223|PMID:19147991 20100622 RGD protein:increased expression:kidney (rat) 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:737017 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:7240710 20130425 OMIM 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:11161836|PMID:11161837|PMID:11914035|PMID:12754704|PMID:1346617|PMID:1373235|PMID:14518824|PMID:15128923|PMID:15877211|PMID:16199547|PMID:1627655|PMID:1715688|PMID:17236799|PMID:17576681|PMID:18511318|PMID:19763152|PMID:20046049|PMID:20156697|PMID:20157782|PMID:20307669|PMID:20488739|PMID:21669895|PMID:22406018|PMID:23430882|PMID:23958592|PMID:24516753|PMID:24517888|PMID:25559898|PMID:25640679|PMID:25741868|PMID:27264805|PMID:27748876|PMID:27928777|PMID:28220263|PMID:28255778|PMID:28361105|PMID:28393214|PMID:28492532|PMID:28689740|PMID:28726122|PMID:28875337|PMID:29402417|PMID:29624230|PMID:30393371|PMID:30835345|PMID:31156707|PMID:31268215|PMID:32778825|PMID:34001203|PMID:34298581|PMID:4690360|PMID:7173255|PMID:7728148|PMID:7728155|PMID:7749408|PMID:7907600|PMID:8103405|PMID:9536098|PMID:9700610|PMID:9744475 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:737017 D RGD:1581042|PMID:15961705 20100622 RGD mRNA:increased expression:atherosclerotic lesions (human) 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737017 D RGD:2326222|PMID:7617578 20100630 RGD DNA:mutations:multiple (human) 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease IEP D RGD:2326081|PMID:19878707 20100622 RGD protein:increased expression:kidney (rat) 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:737017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2016 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737017 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2017 Asic2 acid sensing ion channel subunit 2 gene DOID:10283 prostate cancer ISO RGD:737359 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2017 Asic2 acid sensing ion channel subunit 2 gene DOID:12849 autistic disorder ISO RGD:737359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 2017 Asic2 acid sensing ion channel subunit 2 gene DOID:630 genetic disease ISO RGD:737359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2017 Asic2 acid sensing ion channel subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737359 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2017 Asic2 acid sensing ion channel subunit 2 gene DOID:9005372 Inflammation ISO RGD:737359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 2018 Acly ATP citrate lyase gene DOID:6000 congestive heart failure ISO RGD:10065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 2018 Acly ATP citrate lyase gene DOID:630 genetic disease ISO RGD:10065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2018 Acly ATP citrate lyase gene DOID:684 hepatocellular carcinoma ISO RGD:10065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 2018 Acly ATP citrate lyase gene DOID:9970 obesity ISO RGD:10065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2019 Aco1 aconitase 1 gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:11541090|PMID:23805238 20161007 RGD protein:increased activity:liver 2019 Aco1 aconitase 1 gene DOID:1724 duodenal ulcer IDA D RGD:11541091|PMID:19342511 20161007 RGD protein:increased activity:duodenal mucosa 2019 Aco1 aconitase 1 gene DOID:630 genetic disease ISO RGD:10067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2019 Aco1 aconitase 1 gene DOID:8398 osteoarthritis ISO RGD:10067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2019 Aco1 aconitase 1 gene DOID:9002055 Chronic Allograft Nephropathy IEP D RGD:11541086|PMID:20176611 20161007 RGD 2019 Aco1 aconitase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 2019 Aco1 aconitase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:11541085|PMID:22639386 20161007 RGD protein:decreased expression:hippocampus 2020 Acp1 acid phosphatase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10069 D RGD:1358577|PMID:12231445 19990101 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) 2020 Acp1 acid phosphatase 1 gene DOID:12995 conduct disorder ISO RGD:10069 D RGD:1358577|PMID:12231445 19990101 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) 2020 Acp1 acid phosphatase 1 gene DOID:3393 coronary artery disease ISO RGD:10069 D RGD:2313179|PMID:19246900 20090911 RGD 2020 Acp1 acid phosphatase 1 gene DOID:630 genetic disease ISO RGD:10069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2020 Acp1 acid phosphatase 1 gene DOID:8947 diabetic retinopathy ISO RGD:10069 D RGD:2313184|PMID:12495297 20090911 RGD associated with Diabetes Mellitus, Insulin-Dependent 2020 Acp1 acid phosphatase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:10069 D RGD:1625288|PMID:12409270 20070531 RGD associated with Obesity 2020 Acp1 acid phosphatase 1 gene DOID:9007692 Insulin Resistance ISO RGD:10068 D RGD:2313180|PMID:17353188 20090911 RGD associated with Obesity 2020 Acp1 acid phosphatase 1 gene DOID:9351 diabetes mellitus ISO RGD:10069 D RGD:2313188|PMID:8620937 20090911 RGD 2020 Acp1 acid phosphatase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10069 D RGD:2313183|PMID:15281007 20090911 RGD 2020 Acp1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10069 D RGD:2313182|PMID:15586390 20090911 RGD 2020 Acp1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10069 D RGD:2313186|PMID:11912546 20090911 RGD 2020 Acp1 acid phosphatase 1 gene DOID:9970 obesity ISO RGD:10069 D RGD:2313187|PMID:9198310 20090911 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2020 Acp1 acid phosphatase 1 gene DOID:9970 obesity severity ISO RGD:10069 D RGD:1625289|PMID:2373509 20070531 RGD 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:10071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:1059 intellectual disability ISO RGD:10071 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:11832 visual epilepsy ISO RGD:10070 D RGD:1300245|PMID:9228031 19990101 RGD 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:630 genetic disease ISO RGD:10071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2021 Acp2 acid phosphatase 2, lysosomal gene DOID:9006216 Acid Phosphatase Deficiency ISO RGD:10071 D RGD:7240710 20141015 OMIM 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:0050990 episodic ataxia type 2 ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:0111254 glutaric acidemia I ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:12466 secondary hyperparathyroidism ISO RGD:10073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21985997|PMID:22373954 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:3413 alpha-mannosidosis ISO RGD:10073 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:630 genetic disease ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13524805|PMID:21217752|PMID:21217755|PMID:2363422|PMID:25741868|PMID:26951490|PMID:27125509|PMID:27390188|PMID:28492532|PMID:28740483 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9003845 Stress Fractures IEP D RGD:2315909|PMID:19821772 20100115 RGD protein:increased expression:tibia (rat) 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:7240710 20141015 OMIM 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation PMID:12786759|PMID:13524805|PMID:16470600|PMID:17576681|PMID:18924170|PMID:21217752|PMID:21217755|PMID:2363422|PMID:24033266|PMID:25741868|PMID:26346816|PMID:26789720|PMID:26951490|PMID:27125509|PMID:27390188|PMID:27718324|PMID:28492532|PMID:28740483|PMID:32214327|PMID:9536098 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9004914 Postmenopausal Osteoporosis IEP D RGD:2315910|PMID:19736603 20100115 RGD protein:increased expression:femur (rat) 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315882|PMID:19699734 20100114 RGD protein:increased activity:femoral bone (rat) 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9007945 Spondyloenchondrodysplasia ISO RGD:10073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21217752|PMID:21217755 2022 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9970 obesity ISO RGD:10073 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2023 Acp3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736505 D RGD:2301055|PMID:16024648 20080924 RGD 2023 Acp3 acid phosphatase 3 gene DOID:10283 prostate cancer ISS RGD:736506 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 2023 Acp3 acid phosphatase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736505 D RGD:2301054|PMID:17991541 20080924 RGD 2023 Acp3 acid phosphatase 3 gene DOID:630 genetic disease ISO RGD:736505 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2023 Acp3 acid phosphatase 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2023 Acp3 acid phosphatase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736505 D RGD:2301052|PMID:15240830 20080924 RGD 2023 Acp3 acid phosphatase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736505 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 2023 Acp3 acid phosphatase 3 gene DOID:9270 alkaptonuria ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 2024 Acr acrosin gene DOID:0060041 autism spectrum disorder ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 2024 Acr acrosin gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:736688 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 2024 Acr acrosin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736688 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 2024 Acr acrosin gene DOID:1059 intellectual disability ISO RGD:736688 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 2024 Acr acrosin gene DOID:630 genetic disease ISO RGD:736688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:0080102 congenital fiber-type disproportion ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10508519|PMID:10528865|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17387733|PMID:17576681|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21520333|PMID:22825594|PMID:23757202|PMID:24033266|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29172004|PMID:9536098 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:0080685 aortic dissection ISO RGD:737580 D RGD:155260287|PMID:28167124 20220926 RGD protein:decreased expression:aorta (human) 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:737580 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine PMID:25182138|PMID:27854218 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:7240710 20130221 OMIM 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myopathy 2B, severe infantile, autosomal recessive | ClinVar Annotator: match by term: Congenital myopathy 2C, severe infantile, autosomal dominant | ClinVar Annotator: match by term: Nemaline myopathy 3 | ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive PMID:10508519|PMID:11333380|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17187373|PMID:17387733|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21303860|PMID:22067542|PMID:22095987|PMID:22174871|PMID:22442437|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:25182138|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:27854218|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9185179|PMID:9401010 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:737580 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:1540 parathyroid carcinoma ISO RGD:737580 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:3191 nemaline myopathy ISO RGD:737580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:23757202|PMID:25741868|PMID:28492532 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:397 restrictive cardiomyopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:10528865|PMID:17576681|PMID:18414213|PMID:19562689|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:422 congenital structural myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10508519|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22825594|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:28492532 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:440 neuromuscular disease ISO RGD:737580 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:12921789|PMID:15226407|PMID:17227580|PMID:19562689|PMID:24033266|PMID:25470062|PMID:25525159|PMID:28492532 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:630 genetic disease ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12921789|PMID:19284548|PMID:25741868|PMID:28492532 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9000184 Ventricular Fibrillation IEP D RGD:1598720|PMID:16452123 20061215 RGD 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:7240710 20190315 OMIM 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal PMID:10508519|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22095987|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9401010 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10601118 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:10508519|PMID:10528865|PMID:11166164|PMID:11333380|PMID:11525890|PMID:12921789|PMID:1351946|PMID:14733965|PMID:15138616|PMID:15198992|PMID:15226407|PMID:15236405|PMID:15336687|PMID:15468086|PMID:15520409|PMID:16199547|PMID:16427282|PMID:16945536|PMID:17187373|PMID:17227580|PMID:17387733|PMID:17576681|PMID:17705262|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19553121|PMID:19562689|PMID:20179953|PMID:20301436|PMID:20303757|PMID:20621480|PMID:21514153|PMID:21520333|PMID:22095987|PMID:22825594|PMID:23102861|PMID:23294764|PMID:23305948|PMID:23394784|PMID:23650303|PMID:23757202|PMID:24033266|PMID:24313005|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25088345|PMID:25182138|PMID:25214167|PMID:25326635|PMID:25470062|PMID:25525159|PMID:25635128|PMID:25741868|PMID:25747004|PMID:25938801|PMID:25987458|PMID:26172852|PMID:26337181|PMID:26436962|PMID:26467025|PMID:27074222|PMID:27112274|PMID:27447704|PMID:27854218|PMID:28256728|PMID:28357410|PMID:28416349|PMID:28492532|PMID:28606400|PMID:28780987|PMID:29172004|PMID:29274205|PMID:29288010|PMID:29731279|PMID:29792937|PMID:30253894|PMID:30354303|PMID:30732915|PMID:30792901|PMID:31127727|PMID:31321302|PMID:31680123|PMID:31724238|PMID:32154989|PMID:32222963|PMID:32989108|PMID:4952447|PMID:9185179|PMID:9401010|PMID:9536098 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9008386 Hydrops Fetalis ISO RGD:737580 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 2025 Acta1 actin, alpha 1, skeletal muscle gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737580 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0050700 cardiomyopathy ISO RGD:735789 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22555271|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24736382|PMID:25163546|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32815737|PMID:32880476|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9536098|PMID:9563954 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735789 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:7240710 20130425 OMIM 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 5 PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:22555271|PMID:22563033|PMID:23054336|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34088380|PMID:34935411 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:7240710 20130425 OMIM 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:10330430|PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16199547|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18458017|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19562689|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24691700|PMID:24736382|PMID:24793351|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25524337|PMID:25741868|PMID:26914223|PMID:27125413|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29121657|PMID:29440008|PMID:29719515|PMID:29764897|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30600190|PMID:30685992|PMID:30762279|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32815737|PMID:32880476|PMID:33049292|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9536098|PMID:9563954 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:7240710 20180228 OMIM 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1R PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29719515|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:9563954 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:10763 hypertension IEP D RGD:1598724|PMID:16343576 20061215 RGD 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22563033|PMID:24033266|PMID:24736382|PMID:25239116|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28790153|PMID:30371277|PMID:9536098 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:11554173 20180306 CTD CTD Direct Evidence: marker/mechanism 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735789 D RGD:1559158|PMID:9563954 20061215 RGD DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:1882 atrial heart septal defect ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:2717 Bloom syndrome ISO RGD:735789 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735789 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:630 genetic disease ISO RGD:735789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:28973083 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735789 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:9005930 Endotoxemia IEP D RGD:1598729|PMID:11680626 20061215 RGD 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:9256 colorectal cancer ISO RGD:735789 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2026 Actc1 actin, alpha, cardiac muscle 1 gene DOID:9835 refractive error ISO RGD:735789 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 2027 Actg2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24337657|PMID:24676022 2027 Actg2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:7240710 20171115 OMIM 2027 Actg2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:30019982|PMID:31769566|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:737318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 2027 Actg2 actin gamma 2, smooth muscle gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737318 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Intestinal pseudo-obstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:11474115|PMID:21681106|PMID:22960657|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:24777424|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:26938784|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29387497|PMID:29608093|PMID:29781137|PMID:31769566|PMID:32814715|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:2018 hyperinsulinism ISO RGD:737318 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hyperinsulinism PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:543 dystonia ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 2027 Actg2 actin gamma 2, smooth muscle gene DOID:630 genetic disease ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:8437 intestinal obstruction ISO RGD:737318 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:22960657|PMID:24777424|PMID:25741868|PMID:29781137 2027 Actg2 actin gamma 2, smooth muscle gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 2027 Actg2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:7240710 20210728 OMIM 2027 Actg2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29608093|PMID:29781137|PMID:31769566|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:9000807 Megaduodenum ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27007401|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 2027 Actg2 actin gamma 2, smooth muscle gene DOID:9002025 Familial Visceral Myopathy ISO RGD:737318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22960657 2027 Actg2 actin gamma 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:737318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2028 Acvr2b activin A receptor type 2B gene DOID:0050451 Brugada syndrome ISO RGD:737613 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 2028 Acvr2b activin A receptor type 2B gene DOID:0050545 visceral heterotaxy ISO RGD:737613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9916847 2028 Acvr2b activin A receptor type 2B gene DOID:0050545 visceral heterotaxy ISO RGD:737613 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy 2028 Acvr2b activin A receptor type 2B gene DOID:0060856 right atrial isomerism ISS RGD:10078 D RGD:13592920 20180518 MouseDO OMIM:208530 2028 Acvr2b activin A receptor type 2B gene DOID:630 genetic disease ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2028 Acvr2b activin A receptor type 2B gene DOID:758 situs inversus ISO RGD:737613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9916847 2028 Acvr2b activin A receptor type 2B gene DOID:9001436 Immunodeficiency 68 ISO RGD:737613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 2028 Acvr2b activin A receptor type 2B gene DOID:9004283 Transplant Rejection treatment ISO RGD:737613 D RGD:329322881|PMID:27732750 20230424 RGD human construct in rat model 2028 Acvr2b activin A receptor type 2B gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737613 D RGD:329322881|PMID:27732750 20230424 RGD human construct in rat model 2028 Acvr2b activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:7240710 20140911 OMIM 2028 Acvr2b activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:16199547|PMID:17576681|PMID:2049719|PMID:21864452|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30120289|PMID:30622330|PMID:9536098|PMID:9916847 2029 Acvrl1 activin A receptor like type 1 gene DOID:0060688 arteriovenous malformations of the brain ISS RGD:10079 D RGD:13592920 20180518 MouseDO OMIM:108010 2029 Acvrl1 activin A receptor like type 1 gene DOID:0080600 COVID-19 ISO RGD:737253 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2029 Acvrl1 activin A receptor like type 1 gene DOID:11294 arteriovenous malformation ISO RGD:10079 D RGD:1300250|PMID:11062473 20160211 RGD 2029 Acvrl1 activin A receptor like type 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:737253 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20135064 2029 Acvrl1 activin A receptor like type 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:737253 D RGD:1300352|PMID:15024723 19990101 RGD 2029 Acvrl1 activin A receptor like type 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:21158752|PMID:25637381|PMID:26176610|PMID:28166811|PMID:28492532 2029 Acvrl1 activin A receptor like type 1 gene DOID:1588 thrombocytopenia ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 2029 Acvrl1 activin A receptor like type 1 gene DOID:2213 hemorrhagic disease ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 2029 Acvrl1 activin A receptor like type 1 gene DOID:224 transient cerebral ischemia IEP D RGD:1579751|PMID:15781474 20180330 RGD 2029 Acvrl1 activin A receptor like type 1 gene DOID:630 genetic disease ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2029 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension IEP D RGD:1601116|PMID:17392319 20070406 RGD mRNA:increased expression:lung 2029 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:737253 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 2029 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:737253 D RGD:5128837|PMID:20056902 20110318 RGD DNA:mutations (human) 2029 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:737253 D RGD:1601117|PMID:14684682 20070406 RGD associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations 2029 Acvrl1 activin A receptor like type 1 gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:737253 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:10187774|PMID:10767348|PMID:11170071|PMID:11484689|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15375013|PMID:15517393|PMID:15687131|PMID:15712271|PMID:15880681|PMID:16123970|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:19767588|PMID:20056902|PMID:20414677|PMID:20501893|PMID:20609011|PMID:21158752|PMID:21378382|PMID:21651515|PMID:22377182|PMID:22553411|PMID:22632830|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23722869|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24196379|PMID:24603890|PMID:25318803|PMID:25326635|PMID:25741868|PMID:25970827|PMID:26176610|PMID:26387786|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27869117|PMID:28492532|PMID:29449337|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31400083|PMID:31455059|PMID:31511490|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:8640225|PMID:9245985 2029 Acvrl1 activin A receptor like type 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:10767348|PMID:11484689|PMID:12114496|PMID:14684682|PMID:15024723|PMID:15517393|PMID:15687131|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19767588|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:24033266|PMID:24753439|PMID:25741868|PMID:25970827|PMID:26387786|PMID:27316748|PMID:27587546|PMID:28492532|PMID:29449337|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:31019026|PMID:32300199|PMID:32503579|PMID:32581362|PMID:32899377 2029 Acvrl1 activin A receptor like type 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:15024723|PMID:15065824|PMID:15517393|PMID:15712271|PMID:16282348|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16705692|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18673552|PMID:19767588|PMID:20414677|PMID:20501893|PMID:21158752|PMID:23722869|PMID:23919827|PMID:24196379|PMID:25741868|PMID:26176610|PMID:26387786|PMID:28492532|PMID:29631995|PMID:30578397|PMID:31220907|PMID:32300199|PMID:32573726|PMID:9536098 2029 Acvrl1 activin A receptor like type 1 gene DOID:9004771 Vascular Remodeling ISO RGD:737253 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 2029 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:10079 D RGD:11035214|PMID:12588795 20160211 RGD 2029 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:10769364|PMID:18543223 20160211 RGD DNA:nonsense mutation:cds:145del(human) 2029 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:11035213|PMID:17219009 20160211 RGD DNA:deletion, insertion and missense mutations:exons: 2029 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:11035216|PMID:16752392 20160211 RGD DNA:mutations: 2029 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:7240710 20130221 OMIM 2029 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 PMID:10187774|PMID:10694922|PMID:10767348|PMID:10946360|PMID:11170071|PMID:11484689|PMID:11865300|PMID:12079393|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15687131|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15880681|PMID:15993872|PMID:16123970|PMID:16199547|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18312453|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19357124|PMID:19508727|PMID:19555857|PMID:19763152|PMID:19767588|PMID:20056902|PMID:20307669|PMID:20414677|PMID:20501893|PMID:21132305|PMID:21158752|PMID:21378382|PMID:21398687|PMID:21488239|PMID:21536610|PMID:21546842|PMID:22028876|PMID:22377182|PMID:22406018|PMID:22553411|PMID:22632830|PMID:22718755|PMID:22781769|PMID:22799562|PMID:22977237|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23535011|PMID:23568730|PMID:23653583|PMID:23722869|PMID:23729109|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24603890|PMID:24753439|PMID:25318803|PMID:25326635|PMID:25557927|PMID:25637381|PMID:25741868|PMID:25778885|PMID:25970827|PMID:26176610|PMID:26245826|PMID:26387786|PMID:26401274|PMID:26986070|PMID:27077548|PMID:27081284|PMID:27291782|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27630060|PMID:27869117|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29171923|PMID:29449337|PMID:29515340|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29923633|PMID:30120215|PMID:30244195|PMID:30251589|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31327192|PMID:31400083|PMID:31450639|PMID:31455059|PMID:31511490|PMID:31594285|PMID:31618753|PMID:31727138|PMID:31875044|PMID:32165824|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:32899377|PMID:33919892|PMID:34008892|PMID:34501220|PMID:34872578|PMID:6470589|PMID:8640225|PMID:9245985|PMID:9536098 2029 Acvrl1 activin A receptor like type 1 gene DOID:9008421 Epistaxis ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:11484689|PMID:15687131|PMID:16540754|PMID:17786384|PMID:18159113|PMID:18498373|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:30260738|PMID:32581362 2029 Acvrl1 activin A receptor like type 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:12700602|PMID:14684682|PMID:15024723|PMID:15712271|PMID:15879500|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16690726|PMID:16705692|PMID:18159113|PMID:18495117|PMID:18498373|PMID:19555857|PMID:20414677|PMID:20501893|PMID:21158752|PMID:22632830|PMID:22781769|PMID:23298310|PMID:23535011|PMID:23722869|PMID:24753439|PMID:25557927|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:28918311|PMID:29449337|PMID:29515340|PMID:31400083|PMID:31727138|PMID:32300199|PMID:32503579|PMID:32581362|PMID:9245985 2030 Acy1 aminoacylase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351880 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2030 Acy1 aminoacylase 1 gene DOID:1059 intellectual disability ISO RGD:1351880 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2030 Acy1 aminoacylase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1351880 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 2030 Acy1 aminoacylase 1 gene DOID:630 genetic disease ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693 2030 Acy1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:7240710 20180321 OMIM 2030 Acy1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aminoacylase 1 deficiency PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24117009|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693|PMID:31980526 2031 Ada adenosine deaminase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:736149 D RGD:152995262|PMID:20379753 20220610 RGD protein:increased activity:saliva: 2031 Ada adenosine deaminase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736149 D RGD:152995268|PMID:27221867 20220610 RGD 2031 Ada adenosine deaminase gene DOID:0060041 autism spectrum disorder ISO RGD:736149 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2031 Ada adenosine deaminase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 2031 Ada adenosine deaminase gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:1346349|PMID:25326637|PMID:25741868|PMID:26376800|PMID:26467025|PMID:2651461|PMID:2773932|PMID:28492532|PMID:3182793|PMID:3475710|PMID:8401541|PMID:8614422|PMID:9758612 2031 Ada adenosine deaminase gene DOID:10113 trypanosomiasis IEP D RGD:5128861|PMID:20809996 20110322 RGD 2031 Ada adenosine deaminase gene DOID:10247 pleurisy ISO RGD:10081 D RGD:5128847|PMID:16860713 20110321 RGD 2031 Ada adenosine deaminase gene DOID:10457 Legionnaires' disease ISO RGD:736149 D RGD:5128857|PMID:9255891 20110321 RGD protein:increased expression:serum 2031 Ada adenosine deaminase gene DOID:10534 stomach cancer ISO RGD:736149 D RGD:152995290|PMID:8076377 20220614 RGD protein:increased expression:stomach: 2031 Ada adenosine deaminase gene DOID:10534 stomach cancer treatment ISO RGD:736149 D RGD:152995265|PMID:4010093 20220610 RGD 2031 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:152995280|PMID:21860532 20220613 RGD protein:increased activity:pleural fluid: 2031 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:152995288|PMID:18357489 20220614 RGD 2031 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:152995292|PMID:1689629 20220614 RGD protein:increased expression:serum: 2031 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:152998934|PMID:1818842 20220707 RGD protein:increased activity:serum: 2031 Ada adenosine deaminase gene DOID:10763 hypertension IDA D RGD:1624292|PMID:9605386 20070507 RGD 2031 Ada adenosine deaminase gene DOID:10808 gastric ulcer ISO RGD:736149 D RGD:152998951|PMID:20029210 20220708 RGD protein:decreased activity:stomach: 2031 Ada adenosine deaminase gene DOID:11100 Q fever ISO RGD:736149 D RGD:5128857|PMID:9255891 20110321 RGD protein:increased expression:serum 2031 Ada adenosine deaminase gene DOID:11396 pulmonary edema IMP D RGD:5128842|PMID:20228181 20110321 RGD associated with Acute Lung Injury 2031 Ada adenosine deaminase gene DOID:1168 familial hyperlipidemia treatment IEP D RGD:152998957|PMID:30679022 20220708 RGD 2031 Ada adenosine deaminase gene DOID:12849 autistic disorder ISO RGD:736149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11354825 2031 Ada adenosine deaminase gene DOID:13223 uterine fibroid susceptibility ISO RGD:736149 D RGD:152995264|PMID:26918693 20220610 RGD DNA:polymorphisms: : 2031 Ada adenosine deaminase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736149 D RGD:5128857|PMID:9255891 20110321 RGD protein:increased expression:serum 2031 Ada adenosine deaminase gene DOID:13406 pulmonary sarcoidosis ISO RGD:736149 D RGD:5128856|PMID:10410539 20110321 RGD protein:increased expression:respiratory system fluid/secretion 2031 Ada adenosine deaminase gene DOID:14484 sporotrichosis IEP D RGD:152995407|PMID:22169893 20220617 RGD protein:altered activity:serum,lymphocyte 2031 Ada adenosine deaminase gene DOID:1790 malignant mesothelioma treatment ISO RGD:736149 D RGD:152995277|PMID:17952507 20220613 RGD 2031 Ada adenosine deaminase gene DOID:219 colon cancer ISO RGD:736149 D RGD:152995289|PMID:15820509 20220614 RGD protein:increased activity:colon 2031 Ada adenosine deaminase gene DOID:219 colon cancer susceptibility ISO RGD:736149 D RGD:152995263|PMID:20590444 20220610 RGD DNA:polymorphisms,haplotypes: : 2031 Ada adenosine deaminase gene DOID:2234 focal epilepsy ISO RGD:736149 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2031 Ada adenosine deaminase gene DOID:2297 leptospirosis IEP D RGD:5128858|PMID:21320715 20110321 RGD 2031 Ada adenosine deaminase gene DOID:2841 asthma susceptibility ISO RGD:736149 D RGD:5128848|PMID:16754522 20110321 RGD DNA:polymorphisms (human) 2031 Ada adenosine deaminase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:736149 D RGD:152995273|PMID:8138195 20220610 RGD protein:decreased activity:larynx 2031 Ada adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:152995271|PMID:19460251 20220610 RGD protein:increased activity:sputum: 2031 Ada adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:152995390|PMID:2212911 20220616 RGD protein:increased activity:blood, pulmonary alveolar duct 2031 Ada adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:5128854|PMID:12194640 20110321 RGD protein:increased expression:plasma, respiratory system fluid/secretion 2031 Ada adenosine deaminase gene DOID:319 spinal cord disease ISO RGD:736149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16325979 2031 Ada adenosine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736149 D RGD:152995295|PMID:31375946 20220614 RGD protein:decreased expression:lymphocyte,erythrocyte: 2031 Ada adenosine deaminase gene DOID:4195 hyperglycemia IEP D RGD:1624290|PMID:12472193 20070507 RGD protein:decreased expression:mesangial cell 2031 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:7240710 20130221 OMIM 2031 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 2031 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 2031 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:11901152|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:25954555|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:27872624|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:32888943|PMID:33628209|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 2031 Ada adenosine deaminase gene DOID:612 primary immunodeficiency disease ISO RGD:10081 D RGD:1300251|PMID:9478961 19990101 RGD 2031 Ada adenosine deaminase gene DOID:614 lymphopenia ISO RGD:10081 D RGD:1300251|PMID:9478961 19990101 RGD 2031 Ada adenosine deaminase gene DOID:627 severe combined immunodeficiency ISO RGD:736149 D RGD:1300353|PMID:8227344 19990101 RGD 2031 Ada adenosine deaminase gene DOID:627 severe combined immunodeficiency ISO RGD:736149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1284479|PMID:14499267|PMID:16199547|PMID:16825284|PMID:17001642|PMID:17576681|PMID:18952502|PMID:19179314|PMID:1974554|PMID:19830125|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23348723|PMID:24033266|PMID:25525159|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27129325|PMID:2758612|PMID:2783588|PMID:28492532|PMID:29744787|PMID:30290665|PMID:31031743|PMID:31681265|PMID:3182793|PMID:31858364|PMID:32245326|PMID:32307643|PMID:3839802|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8589684|PMID:8673127|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 2031 Ada adenosine deaminase gene DOID:8283 peritonitis IDA D RGD:1624309|PMID:15969953 20070508 RGD protein:increased expression:peritoneal fluid 2031 Ada adenosine deaminase gene DOID:8283 peritonitis IEP D RGD:152995406|PMID:15373900 20220617 RGD protein:decreased activity:serum 2031 Ada adenosine deaminase gene DOID:850 lung disease IEP D RGD:5128845|PMID:18561952 20110321 RGD associated with Reperfusion Injury;protein:increased expression:lung 2031 Ada adenosine deaminase gene DOID:8618 oral cavity cancer ISO RGD:736149 D RGD:152995281|PMID:16120121 20220613 RGD protein:decreased activity:saliva: 2031 Ada adenosine deaminase gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:736149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 2031 Ada adenosine deaminase gene DOID:9000528 Coronary Disease ISO RGD:736149 D RGD:1624286|PMID:17259686 20070507 RGD protein:increased expression:leukocyte 2031 Ada adenosine deaminase gene DOID:9001191 Cadmium Poisoning treatment IEP D RGD:152995409|PMID:27491636 20220617 RGD 2031 Ada adenosine deaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2031 Ada adenosine deaminase gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:152995398|PMID:25720338 20220616 RGD protein:increased activity:brain: 2031 Ada adenosine deaminase gene DOID:9005172 Lung Neoplasms ISO RGD:736149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2305558 2031 Ada adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313538|PMID:19166862 20090930 RGD protein:increased expression:platelet 2031 Ada adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10081 D RGD:2313540|PMID:9784839 20090930 RGD 2031 Ada adenosine deaminase gene DOID:9005883 Pleural Effusion treatment ISO RGD:736149 D RGD:152995274|PMID:25547995 20220610 RGD 2031 Ada adenosine deaminase gene DOID:9006599 Hypertriglyceridemia treatment IEP D RGD:152995395|PMID:30280312 20220616 RGD 2031 Ada adenosine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:5128859|PMID:21161045 20110321 RGD protein:increased expression:liver 2031 Ada adenosine deaminase gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1624305|PMID:16641873 20070508 RGD protein:increased expression 2031 Ada adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:152995292|PMID:1689629 20220614 RGD protein:decreased expression:serum: 2031 Ada adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:152998934|PMID:1818842 20220707 RGD protein:increased activity:serum: 2031 Ada adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions disease_progression ISO RGD:736149 D RGD:152995272|PMID:27300446 20220610 RGD 2031 Ada adenosine deaminase gene DOID:9009039 Hyperemia ISO RGD:736149 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2502780|PMID:7949234 2031 Ada adenosine deaminase gene DOID:9256 colorectal cancer disease_progression ISO RGD:736149 D RGD:152995282|PMID:11114712 20220613 RGD 2031 Ada adenosine deaminase gene DOID:9351 diabetes mellitus treatment IEP D RGD:152998952|PMID:25955284 20220708 RGD 2031 Ada adenosine deaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736149 D RGD:2313539|PMID:15168879 20090930 RGD protein:increased expression:serum 2031 Ada adenosine deaminase gene DOID:9970 obesity ISO RGD:736149 D RGD:1624289|PMID:16501670 20070507 RGD protein:increased expression:serum 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0050700 cardiomyopathy IEP D RGD:13702879|PMID:24244825 20180720 RGD 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0060256 Dowling-Degos disease ISO RGD:735847 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura ISO RGD:735847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura PMID:23666529|PMID:25741868|PMID:28492532 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura susceptibility ISO RGD:735847 D RGD:7240710 20230517 OMIM 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0081292 traumatic brain injury IEP D RGD:13703033|PMID:22489706 20180726 RGD 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 ISO RGD:735847 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Alzheimer disease 18 PMID:19608551|PMID:24055016 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 susceptibility ISO RGD:735847 D RGD:7240710 20230517 OMIM 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease IEP D RGD:13703032|PMID:23296102 20180726 RGD protein:decreased expression:cerebral cortex, hippocampus 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease IEP D RGD:13703037|PMID:24792732 20180726 RGD protein:decreased expression:cerebral cortex, hippocampus 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:735847 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:1074 kidney failure ISO RGD:735847 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:14004 thoracic aortic aneurysm IEP D RGD:5129489|PMID:20621845 20110331 RGD protein:increased expression:aorta 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:1824 status epilepticus IEP D RGD:1559151|PMID:15950787 20100527 RGD mRNA:increased expression:dentate gyrus 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:2717 Bloom syndrome ISO RGD:735847 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:2986 IgA glomerulonephritis ISO RGD:735847 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:5199 ureteral obstruction ISO RGD:735848 D RGD:13703030|PMID:24103556 20180726 RGD 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:630 genetic disease ISO RGD:735847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:83 cataract IEP D RGD:13703031|PMID:23941810 20180726 RGD mRNA:increased expression:retina 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9000784 Fibrosis ISO RGD:735847 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735847 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9002457 Experimental Arthritis IEP D RGD:13703039|PMID:23897050 20180726 RGD 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9002775 Cognitive Dysfunction IEP D RGD:13782059|PMID:28455102 20180817 RGD associated with Sleep Deprivation 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:735847 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer ISO RGD:735847 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2032 Adam10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer severity ISO RGD:735847 D RGD:153298908|PMID:31565100 20220728 RGD 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:0050888 syndromic intellectual disability ISO RGD:732582 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:32220291 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:732582 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:10907 microcephaly ISO RGD:732582 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:11832 visual epilepsy ISO RGD:10082 D RGD:1300255|PMID:10894545 19990101 RGD 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:12849 autistic disorder ISO RGD:732582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:224 transient cerebral ischemia IMP D RGD:10755337|PMID:16504947 20160125 RGD 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:10755336|PMID:20372915 20160125 RGD 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:13432092|PMID:22226999 20170919 RGD mRNA:decreased expression:motor neuron: 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:332 amyotrophic lateral sclerosis ISS RGD:10082 D RGD:13592920 20180518 MouseDO 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:630 genetic disease ISO RGD:732582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:10755338|PMID:20456005 20160125 RGD 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732582 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:7240710 20200617 OMIM 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:25741868|PMID:32220291|PMID:32719099 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9263 homocystinuria ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2033 Adarb1 adenosine deaminase, RNA-specific, B1 gene DOID:9970 obesity IMP D RGD:10450894|PMID:17567573 20160122 RGD associated with Hyperphagia 2034 Adcy4 adenylate cyclase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 2034 Adcy4 adenylate cyclase 4 gene DOID:630 genetic disease ISO RGD:736108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2034 Adcy4 adenylate cyclase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 2034 Adcy4 adenylate cyclase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736108 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2035 Adcy6 adenylate cyclase 6 gene DOID:5199 ureteral obstruction IEP D RGD:2312654|PMID:18971210 20180822 RGD 2035 Adcy6 adenylate cyclase 6 gene DOID:630 genetic disease ISO RGD:735837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2035 Adcy6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:7240710 20170503 OMIM 2035 Adcy6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:23806086|PMID:24088041|PMID:24319099|PMID:25741868|PMID:26257172|PMID:31846058 2036 Adcy8 adenylate cyclase 8 gene DOID:0060001 withdrawal disorder ISO RGD:733733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 2036 Adcy8 adenylate cyclase 8 gene DOID:11713 diabetic angiopathy ISO RGD:733733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 2036 Adcy8 adenylate cyclase 8 gene DOID:3324 mood disorder ISO RGD:733733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19691954 2036 Adcy8 adenylate cyclase 8 gene DOID:630 genetic disease ISO RGD:733733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2036 Adcy8 adenylate cyclase 8 gene DOID:9002362 Hyperkinesis ISO RGD:733733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:732730 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20378996 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:732730 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16322346 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0080855 Parkinsonism IDA D RGD:2325295|PMID:16888218 20100528 RGD 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0080998 acute necrotizing pancreatitis IDA D RGD:2325308|PMID:15702783 20100528 RGD 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:12849 autistic disorder ISO RGD:732730 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:1679 cystitis IEP D RGD:2315964|PMID:18563302 20100527 RGD mRNA:increased expression:urinary bladder urothelium 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:2018 hyperinsulinism ISO RGD:10084 D RGD:2325255|PMID:14742740 20100527 RGD 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:3602 toxic encephalopathy ISO RGD:732730 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:29604313 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732730 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:630 genetic disease ISO RGD:732730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2325306|PMID:15913892 20100528 RGD 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2325309|PMID:15698618 20100528 RGD protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000998 Brain Injuries IDA D RGD:2325298|PMID:16689670 20100528 RGD 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:732730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17658665 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9002221 Hyperplasia ISO RGD:10084 D RGD:2325255|PMID:14742740 20100527 RGD 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9003165 Miosis ISO RGD:732730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004001 Facial Nerve Injuries IEP D RGD:2325258|PMID:19427307 20100527 RGD mRNA:increased expression:facial VII nucleus 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2315956|PMID:19647005 20100527 RGD mRNA:increased expression:hippocampal granule cell 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732730 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325314|PMID:9864055 20100528 RGD protein:increased expression:pancreas, hypothalamus 2037 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9009039 Hyperemia ISO RGD:732730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 2038 Adcyap1r1 ADCYAP receptor type I gene DOID:1679 cystitis IEP D RGD:2315964|PMID:18563302 20100119 RGD mRNA:increased expression:urothelium, detrusor muscle (rat) 2038 Adcyap1r1 ADCYAP receptor type I gene DOID:2841 asthma ISO RGD:736792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21059121 2038 Adcyap1r1 ADCYAP receptor type I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736792 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2038 Adcyap1r1 ADCYAP receptor type I gene DOID:630 genetic disease ISO RGD:736792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2038 Adcyap1r1 ADCYAP receptor type I gene DOID:9004009 Reperfusion Injury IEP D RGD:2315956|PMID:19647005 20100118 RGD mRNA:decreased expression:dentate gyrus (rat) 2041 Add1 adducin 1 gene DOID:10591 pre-eclampsia ISO RGD:733925 D RGD:5147993|PMID:19731222 20110901 RGD mRNA:increased expression:blood 2041 Add1 adducin 1 gene DOID:10763 hypertension IAGP D RGD:1302895|PMID:15474463 20070514 RGD 2041 Add1 adducin 1 gene DOID:10763 hypertension IDA D RGD:631736|PMID:8543181 19990101 RGD 2041 Add1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:19199261 2041 Add1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:1624953|PMID:9149697 20070514 RGD DNA:polymorphism: :p.G460W (human) 2041 Add1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:7240710 20130221 OMIM 2041 Add1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:10024330|PMID:10523341|PMID:11882573|PMID:12623934|PMID:14553962|PMID:18591455|PMID:19057513|PMID:22992668|PMID:23863317|PMID:9149697|PMID:9607177 2041 Add1 adducin 1 gene DOID:10908 hydrocephalus ISS RGD:10086 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 2041 Add1 adducin 1 gene DOID:11044 gastroschisis ISO RGD:733925 D RGD:5148000|PMID:17051589 20110901 RGD DNA:SNP: :p.G460W (human) 2041 Add1 adducin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:733925 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 2041 Add1 adducin 1 gene DOID:1287 cardiovascular system disease ISO RGD:733925 D RGD:1331525|PMID:15118671 19990101 GAD 2041 Add1 adducin 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733925 D RGD:1559299|PMID:11775124 19990101 RGD DNA:polymorphism: :p.Gly460Trp (human) 2041 Add1 adducin 1 gene DOID:1856 cherubism ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 2041 Add1 adducin 1 gene DOID:1936 atherosclerosis ISO RGD:733925 D RGD:5147995|PMID:17082469 20110901 RGD DNA:missense mutation:cds:p.G460W (human) 2041 Add1 adducin 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:733925 D RGD:7174725|PMID:19838659 20121119 RGD DNA:polymorphism:cds:rs4961(human) 2041 Add1 adducin 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20110901 RGD protein:decreased expression:forebrain, postsynaptic density 2041 Add1 adducin 1 gene DOID:5844 myocardial infarction ISO RGD:733925 D RGD:5147995|PMID:17082469 20110901 RGD DNA:missense mutation:cds:p.G460W (human) 2041 Add1 adducin 1 gene DOID:5844 myocardial infarction no_association ISO RGD:733925 D RGD:5148001|PMID:16420563 20110901 RGD DNA:missense mutation:cds:p.G460W (human) 2041 Add1 adducin 1 gene DOID:630 genetic disease ISO RGD:733925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2041 Add1 adducin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 2041 Add1 adducin 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733925 D RGD:5147996|PMID:16100725 20110901 RGD DNA:SNP: :p.G460W (human) 2041 Add1 adducin 1 gene DOID:9008366 Meningococcal Infections ISO RGD:733925 D RGD:5147999|PMID:18679149 20110901 RGD DNA:missense mutation:cds:p.G460W (human) 2041 Add1 adducin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733925 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 2042 Add2 adducin 2 gene DOID:0110916 hereditary spherocytosis type 1 ISS RGD:10087 D RGD:13592920 20180518 MouseDO OMIM:182900 2042 Add2 adducin 2 gene DOID:10763 hypertension IDA D RGD:631712|PMID:2059221 19990101 RGD 2042 Add2 adducin 2 gene DOID:10763 hypertension ISO RGD:736575 D RGD:10047131|PMID:24652215 20150710 RGD DNA:SNP: :rs4852706 (human) 2042 Add2 adducin 2 gene DOID:10763 hypertension ISO RGD:736575 D RGD:1331525|PMID:15118671 20140211 GAD 2042 Add2 adducin 2 gene DOID:10763 hypertension no_association ISO RGD:736575 D RGD:1625293|PMID:16497648 20070601 RGD DNA:polymorphism 2042 Add2 adducin 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736575 D RGD:7174725|PMID:19838659 20121119 RGD DNA:polymorphism:cds: rs4984(human) 2042 Add2 adducin 2 gene DOID:576 proteinuria ISO RGD:10087 D RGD:7174725|PMID:19838659 20121119 RGD 2042 Add2 adducin 2 gene DOID:630 genetic disease ISO RGD:736575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2043 Add3 adducin 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:735411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 2043 Add3 adducin 3 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735411 D RGD:7240710 20190315 OMIM 2043 Add3 adducin 3 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 PMID:23836506|PMID:25741868|PMID:28492532|PMID:29768408 2043 Add3 adducin 3 gene DOID:10763 hypertension IDA D RGD:704369|PMID:12364392 19990101 RGD 2043 Add3 adducin 3 gene DOID:10907 microcephaly ISO RGD:735411 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2043 Add3 adducin 3 gene DOID:1969 cerebral palsy ISO RGD:735411 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:23836506|PMID:25741868 2043 Add3 adducin 3 gene DOID:2316 brain ischemia ISO RGD:735411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 2043 Add3 adducin 3 gene DOID:3312 bipolar disorder ISO RGD:735411 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 2043 Add3 adducin 3 gene DOID:3602 toxic encephalopathy ISO RGD:735411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2043 Add3 adducin 3 gene DOID:576 proteinuria IMP D RGD:150340736|PMID:32029431 20210913 RGD 2043 Add3 adducin 3 gene DOID:630 genetic disease ISO RGD:735411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2043 Add3 adducin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2043 Add3 adducin 3 gene DOID:9003311 Urinary Calculi IEP D RGD:2317717|PMID:15329129 20100419 RGD 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:0050741 alcohol dependence ISO RGD:1344246 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10090900|PMID:15863807|PMID:17718394|PMID:17923853|PMID:3397059|PMID:3758060 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344246 D RGD:7240710 20150819 OMIM 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:1574 alcohol use disorder ISO RGD:1344246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16404797 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:1574 alcohol use disorder ISO RGD:1344246 D RGD:7240710 20150819 OMIM 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:1574 alcohol use disorder ISO RGD:1344246 D RGD:8554872 20150818 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10090900|PMID:15863807|PMID:17718394|PMID:17923853|PMID:3397059|PMID:3758060 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:1793 pancreatic cancer ISO RGD:1344246 D RGD:2325313|PMID:19068087 20100528 RGD DNA:polymorphism: :p.R272Q (human) 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:630 genetic disease ISO RGD:1344246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1344246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16404797 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:1344246 D RGD:8554872 20150818 ClinVar ClinVar Annotator: match by term: Parkinson disease, mitochondrial PMID:15642852 2044 Adh1 alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9007364 Mouth Neoplasms ISO RGD:1344246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15138216 2046 Adk adenosine kinase gene DOID:0060180 colitis ISO RGD:10091 D RGD:6482664|PMID:11123368 20120425 RGD 2046 Adk adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21963049 2046 Adk adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:7240710 20140911 OMIM 2046 Adk adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 PMID:21963049|PMID:25741868|PMID:26975589|PMID:28492532 2046 Adk adenosine kinase gene DOID:1059 intellectual disability ISO RGD:737582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 2046 Adk adenosine kinase gene DOID:14115 toxic shock syndrome ISO RGD:10091 D RGD:6482670|PMID:8207212 20120425 RGD 2046 Adk adenosine kinase gene DOID:2316 brain ischemia ISO RGD:10091 D RGD:6482652|PMID:21427729 20120425 RGD 2046 Adk adenosine kinase gene DOID:2316 brain ischemia ISO RGD:10091 D RGD:6482655|PMID:17457365 20120425 RGD 2046 Adk adenosine kinase gene DOID:3328 temporal lobe epilepsy IEP D RGD:6482302|PMID:21635241 20120424 RGD 2046 Adk adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:737582 D RGD:6482302|PMID:21635241 20120424 RGD 2046 Adk adenosine kinase gene DOID:3454 brain infarction IMP D RGD:6482667|PMID:9731623 20120425 RGD 2046 Adk adenosine kinase gene DOID:3454 brain infarction ISO RGD:10091 D RGD:6482657|PMID:16685255 20120425 RGD 2046 Adk adenosine kinase gene DOID:630 genetic disease ISO RGD:737582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2046 Adk adenosine kinase gene DOID:9002211 Hyperalgesia IMP D RGD:6482662|PMID:11423084 20120425 RGD 2046 Adk adenosine kinase gene DOID:9002211 Hyperalgesia IMP D RGD:6482666|PMID:9932716 20120425 RGD associated with diabetic neuropathies; 2046 Adk adenosine kinase gene DOID:9002457 Experimental Arthritis IMP D RGD:6482663|PMID:11160636 20120425 RGD 2046 Adk adenosine kinase gene DOID:9002669 Hypoxia ISO RGD:737582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 2046 Adk adenosine kinase gene DOID:9003574 Congenital Visceral Steatosis ISO RGD:10091 D RGD:1300259|PMID:11997462 19990101 RGD 2046 Adk adenosine kinase gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:152995398|PMID:25720338 20220616 RGD protein:decreased expression:brain: 2046 Adk adenosine kinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:737582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 2046 Adk adenosine kinase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313360|PMID:12729803 20090918 RGD protein:decreased expression:spleen, lymphocyte 2046 Adk adenosine kinase gene DOID:9006024 Hypotension IMP D RGD:6482668|PMID:9435554 20120425 RGD 2046 Adk adenosine kinase gene DOID:9007402 Gliosis ISO RGD:10091 D RGD:6482650|PMID:21964979 20120425 RGD associated with status epilepticus;protein:increased expression:brain 2046 Adk adenosine kinase gene DOID:9008023 Memory Disorders ISO RGD:10091 D RGD:6482646|PMID:22521820 20120425 RGD 2046 Adk adenosine kinase gene DOID:9452 fatty liver disease ISS RGD:10091 D RGD:13592920 20180518 MouseDO OMIM:228100 2047 Adm adrenomedullin gene DOID:0080600 COVID-19 ISO RGD:730917 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2047 Adm adrenomedullin gene DOID:10534 stomach cancer treatment ISO RGD:730917 D RGD:153344579|PMID:16052530 20220829 RGD human cells in mouse model 2047 Adm adrenomedullin gene DOID:10762 portal hypertension ISO RGD:730918 D RGD:1625304|PMID:15086360 20070601 RGD mRNA:increased expression:liver 2047 Adm adrenomedullin gene DOID:10763 hypertension IEP D RGD:1625300|PMID:16450076 20070601 RGD mRNA, protein:increased expression:myocardium, aorta 2047 Adm adrenomedullin gene DOID:10763 hypertension ISO RGD:730917 D RGD:1625298|PMID:16625237 20070601 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:10808 gastric ulcer ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9845272 2047 Adm adrenomedullin gene DOID:10824 malignant hypertension ISO RGD:730917 D RGD:1625303|PMID:15284680 20070601 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:11612 polycystic ovary syndrome ISO RGD:730917 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:33491863 2047 Adm adrenomedullin gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:1625294|PMID:17355819 20070601 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte 2047 Adm adrenomedullin gene DOID:12849 autistic disorder ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12579522 2047 Adm adrenomedullin gene DOID:13603 obstructive jaundice IEP D RGD:7364952|PMID:20132852 20131014 RGD protein:increased expression:plasma: 2047 Adm adrenomedullin gene DOID:14115 toxic shock syndrome IDA D RGD:1625310|PMID:17318497 20070601 RGD 2047 Adm adrenomedullin gene DOID:14115 toxic shock syndrome IMP D RGD:1642599|PMID:17766482 20100603 RGD 2047 Adm adrenomedullin gene DOID:1591 renovascular hypertension ISO RGD:730917 D RGD:1625303|PMID:15284680 20070601 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:1612 breast cancer ISO RGD:730917 D RGD:2325318|PMID:16841081 20100528 RGD 2047 Adm adrenomedullin gene DOID:1793 pancreatic cancer ISO RGD:730917 D RGD:2325318|PMID:16841081 20100528 RGD 2047 Adm adrenomedullin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730917 D RGD:2325317|PMID:17363587 20100528 RGD 2047 Adm adrenomedullin gene DOID:2018 hyperinsulinism ISO RGD:730917 D RGD:1625301|PMID:15789277 20070601 RGD associated with Obesity;protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:2921 glomerulonephritis IEP D RGD:1625317|PMID:16735801 20070601 RGD associated with Anti-Glomerular Basement Membrane Disease 2047 Adm adrenomedullin gene DOID:2921 glomerulonephritis IEP D RGD:2325320|PMID:20431304 20100528 RGD 2047 Adm adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15063164|PMID:15680492 2047 Adm adrenomedullin gene DOID:341 peripheral vascular disease ISO RGD:730917 D RGD:1625302|PMID:15350700 20070601 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:3454 brain infarction treatment ISO RGD:730917 D RGD:5508764|PMID:21695352 20131014 RGD 2047 Adm adrenomedullin gene DOID:3892 insulinoma ISO RGD:730917 D RGD:2325319|PMID:11331218 20100528 RGD protein:increased expression:pancreas, plasma 2047 Adm adrenomedullin gene DOID:4195 hyperglycemia ISO RGD:730917 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:33491863 2047 Adm adrenomedullin gene DOID:5199 ureteral obstruction IEP D RGD:2325637|PMID:18945953 20100603 RGD mRNA, protein:increased expression:kidney 2047 Adm adrenomedullin gene DOID:6000 congestive heart failure IDA D RGD:704370|PMID:12623952 19990101 RGD 2047 Adm adrenomedullin gene DOID:630 genetic disease ISO RGD:730917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2047 Adm adrenomedullin gene DOID:6432 pulmonary hypertension ISO RGD:730917 D RGD:1625305|PMID:14718403 20070601 RGD 2047 Adm adrenomedullin gene DOID:7693 abdominal aortic aneurysm ISO RGD:730917 D RGD:1625299|PMID:16524566 20070601 RGD protein:increased expression:mast cell, abdominal aorta 2047 Adm adrenomedullin gene DOID:8947 diabetic retinopathy ISO RGD:730917 D RGD:2313312|PMID:19216096 20090917 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:9000064 Cardiac Arrhythmias IDA D RGD:1625318|PMID:16715121 20070601 RGD associated with Myocardial Ischemia 2047 Adm adrenomedullin gene DOID:9000641 Pain ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 2047 Adm adrenomedullin gene DOID:9001542 Albuminuria ISO RGD:730917 D RGD:2313311|PMID:19424162 20090917 RGD associated with Hypertension 2047 Adm adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1625319|PMID:16713642 20070601 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15370692|PMID:16610064 2047 Adm adrenomedullin gene DOID:9001708 Hemorrhagic Shock IEP D RGD:7364990|PMID:15973109 20131015 RGD 2047 Adm adrenomedullin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:730917 D RGD:7364987|PMID:18403050 20131015 RGD 2047 Adm adrenomedullin gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:7364958|PMID:19212187 20131014 RGD mRNA,protein:increased expression:liver,plasma: 2047 Adm adrenomedullin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730917 D RGD:7364958|PMID:19212187 20131014 RGD 2047 Adm adrenomedullin gene DOID:9002211 Hyperalgesia IDA D RGD:1625316|PMID:17043245 20070601 RGD 2047 Adm adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 2047 Adm adrenomedullin gene DOID:9002802 Acidoses IDA D RGD:1625312|PMID:17255858 20070601 RGD associated with Hemorrhage 2047 Adm adrenomedullin gene DOID:9004009 Reperfusion Injury IEP D RGD:7364988|PMID:17263982 20131015 RGD protein:increased expression:plasma: 2047 Adm adrenomedullin gene DOID:9004484 Sepsis IEP D RGD:7364952|PMID:20132852 20131014 RGD protein:increased expression:plasma: 2047 Adm adrenomedullin gene DOID:9004484 Sepsis ISO RGD:730917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14766677 2047 Adm adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:7364952|PMID:20132852 20131014 RGD associated with Jaundice,Obstructive; 2047 Adm adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:7364986|PMID:19009024 20131015 RGD 2047 Adm adrenomedullin gene DOID:9004663 Intestinal Ischemia IEP D RGD:7364988|PMID:17263982 20131015 RGD protein:decreased expression:plasma 2047 Adm adrenomedullin gene DOID:9005587 Starvation IEP D RGD:1625307|PMID:17335899 20070601 RGD mRNA, protein:increased expression:stomach 2047 Adm adrenomedullin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625296|PMID:16955796 20070601 RGD protein:increased expression:pigmented epithelial cell, retina 2047 Adm adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7364948|PMID:20538296 20131014 RGD protein:increased expression:serum: 2047 Adm adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:730917 D RGD:7364948|PMID:20538296 20131014 RGD 2047 Adm adrenomedullin gene DOID:9007096 Stroke IEP D RGD:5508764|PMID:21695352 20131014 RGD protein:increased expression:plasma: 2047 Adm adrenomedullin gene DOID:9007102 Myocardial Ischemia ISO RGD:730917 D RGD:1625302|PMID:15350700 20070601 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:9007692 Insulin Resistance ISO RGD:730917 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:33491863 2047 Adm adrenomedullin gene DOID:9256 colorectal cancer ISO RGD:730917 D RGD:152985531|PMID:21839130 20220607 RGD mRNA,protein:increased expression:colorectum (human) 2047 Adm adrenomedullin gene DOID:9352 type 2 diabetes mellitus ISO RGD:730917 D RGD:2313313|PMID:17557032 20090917 RGD protein:increased expression:plasma 2047 Adm adrenomedullin gene DOID:9970 obesity ISO RGD:730917 D RGD:1625297|PMID:16793965 20070601 RGD mRNA, protein:increased expression:adipose tissue 2048 Adora1 adenosine A1 receptor gene DOID:0050848 obstructive sleep apnea IMP D RGD:5129100|PMID:18787037 20110323 RGD 2048 Adora1 adenosine A1 receptor gene DOID:0060001 withdrawal disorder ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16226742 2048 Adora1 adenosine A1 receptor gene DOID:0060500 drug allergy ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 2048 Adora1 adenosine A1 receptor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:730817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 2048 Adora1 adenosine A1 receptor gene DOID:10763 hypertension IMP D RGD:1625366|PMID:8998253 20070605 RGD 2048 Adora1 adenosine A1 receptor gene DOID:10763 hypertension no_association ISO RGD:730817 D RGD:1625367|PMID:15257174 20070605 RGD 2048 Adora1 adenosine A1 receptor gene DOID:10763 hypertension treatment IDA D RGD:1625365|PMID:9597368 20180329 RGD associated with diabetes mellitus, experimental 2048 Adora1 adenosine A1 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:730817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2048 Adora1 adenosine A1 receptor gene DOID:224 transient cerebral ischemia ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23437309 2048 Adora1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:4890386|PMID:19019667 20101215 RGD DNA:SNPs: :1405C>T (human) 2048 Adora1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:5129097|PMID:17959644 20110323 RGD protein:increased expression:bronchus 2048 Adora1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730818 D RGD:4145444|PMID:20400685 20110323 RGD 2048 Adora1 adenosine A1 receptor gene DOID:326 ischemia ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 2048 Adora1 adenosine A1 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23437309 2048 Adora1 adenosine A1 receptor gene DOID:3526 cerebral infarction IDA D RGD:1625229|PMID:17067559 20070530 RGD 2048 Adora1 adenosine A1 receptor gene DOID:552 pneumonia ISO RGD:730818 D RGD:5129098|PMID:15630442 20110323 RGD 2048 Adora1 adenosine A1 receptor gene DOID:5844 myocardial infarction ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12160945 2048 Adora1 adenosine A1 receptor gene DOID:594 panic disorder ISO RGD:730817 D RGD:1331525|PMID:15118671 19990101 GAD 2048 Adora1 adenosine A1 receptor gene DOID:630 genetic disease ISO RGD:730817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2048 Adora1 adenosine A1 receptor gene DOID:850 lung disease IDA D RGD:5129095|PMID:18307414 20110323 RGD associated with Reperfusion Injury 2048 Adora1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:730818 D RGD:5129093|PMID:20729330 20110323 RGD Acute Lung Injury 2048 Adora1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries IDA D RGD:5129094|PMID:20065990 20100430 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4890369|PMID:17853654 20110323 RGD protein:decreased expression:spinal cord 2048 Adora1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5129096|PMID:18289533 20110323 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9000184 Ventricular Fibrillation IDA D RGD:2317910|PMID:20334814 20100430 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 2048 Adora1 adenosine A1 receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 2048 Adora1 adenosine A1 receptor gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092996 2048 Adora1 adenosine A1 receptor gene DOID:9001747 Ventricular Dysfunction, Left IEP D RGD:1625225|PMID:17211253 20070530 RGD associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle 2048 Adora1 adenosine A1 receptor gene DOID:9002165 Diabetic Nephropathies IMP D RGD:2313803|PMID:19552053 20091016 RGD associated with Diabetes Mellitus, Experimental 2048 Adora1 adenosine A1 receptor gene DOID:9002211 Hyperalgesia IDA D RGD:5129094|PMID:20065990 20110323 RGD associated with Spinal Cord Injuries 2048 Adora1 adenosine A1 receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23437309 2048 Adora1 adenosine A1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:152995398|PMID:25720338 20220616 RGD protein:decreased expression:brain: 2048 Adora1 adenosine A1 receptor gene DOID:9003805 Catalepsy ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9407998 2048 Adora1 adenosine A1 receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:730817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2048 Adora1 adenosine A1 receptor gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:730817 D RGD:5129099|PMID:21388992 20110323 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9005372 Inflammation IDA D RGD:5129103|PMID:2167912 20110323 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2313808|PMID:11593763 20091016 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313805|PMID:16256246 20091016 RGD protein:decreased expression:hippocampus 2048 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730818 D RGD:2313804|PMID:19276628 20091016 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:1625365|PMID:9597368 20180329 RGD associated with hypertension 2048 Adora1 adenosine A1 receptor gene DOID:9006024 Hypotension ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:18313046 2048 Adora1 adenosine A1 receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 2048 Adora1 adenosine A1 receptor gene DOID:9007001 Bradycardia ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18313046 2048 Adora1 adenosine A1 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 2048 Adora1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance ISO RGD:730817 D RGD:2313807|PMID:11703426 20091016 RGD associated with Obesity 2048 Adora1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance treatment IDA D RGD:1625243|PMID:15220221 20070530 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9009131 Ventriculomegaly IDA D RGD:1625283|PMID:12151769 20180329 RGD 2048 Adora1 adenosine A1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730817 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2048 Adora1 adenosine A1 receptor gene DOID:9970 obesity ISO RGD:730817 D RGD:1625369|PMID:16507638 20070605 RGD 2049 Adora2a adenosine A2a receptor gene DOID:0050700 cardiomyopathy ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20363887 2049 Adora2a adenosine A2a receptor gene DOID:0060001 withdrawal disorder ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14756803|PMID:16226742|PMID:16470403 2049 Adora2a adenosine A2a receptor gene DOID:0060500 drug allergy ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 2049 Adora2a adenosine A2a receptor gene DOID:10763 hypertension ISO RGD:730999 D RGD:1331525|PMID:15118671 19990101 GAD 2049 Adora2a adenosine A2a receptor gene DOID:10763 hypertension no_association ISO RGD:730999 D RGD:1625367|PMID:15257174 20070605 RGD 2049 Adora2a adenosine A2a receptor gene DOID:11396 pulmonary edema ISO RGD:10092 D RGD:4890361|PMID:19909990 20101215 RGD associated with Reperfusion Injury 2049 Adora2a adenosine A2a receptor gene DOID:11830 myopia ISS RGD:10092 D RGD:13592920 20180518 MouseDO OMIM:160700 | OMIM:255500 | OMIM:300613 | OMIM:310460 | OMIM:603221 | OMIM:608367 | OMIM:608474 | OMIM:608908 | OMIM:609256 | OMIM:609257 | OMIM:609258 | OMIM:609259 | OMIM:609994 | OMIM:609995 | OMIM:610320 | OMIM:612554 | OMIM:612717 | OMIM:613959 | OMIM:613969 | OMIM:614166 | OMIM:614167 | OMIM:615420 | OMIM:615431 | OMIM:615946 2049 Adora2a adenosine A2a receptor gene DOID:14557 primary pulmonary hypertension ISS RGD:10092 D RGD:13592920 20180518 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 2049 Adora2a adenosine A2a receptor gene DOID:1596 depressive disorder ISO RGD:730999 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26860412 2049 Adora2a adenosine A2a receptor gene DOID:1826 epilepsy ISO RGD:730999 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2049 Adora2a adenosine A2a receptor gene DOID:2030 anxiety disorder ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12825092|PMID:16118787|PMID:18305461|PMID:20532872 2049 Adora2a adenosine A2a receptor gene DOID:2799 bronchiolitis obliterans ISO RGD:10092 D RGD:4890362|PMID:19766783 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:4890366|PMID:18310516 20101215 RGD mRNA:decreased expression:aorta 2049 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:4890380|PMID:17293374 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:4890385|PMID:16339780 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:730999 D RGD:4890386|PMID:19019667 20101215 RGD DNA:SNP (human) 2049 Adora2a adenosine A2a receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10092 D RGD:4890385|PMID:16339780 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:480 movement disease ISO RGD:730999 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 2049 Adora2a adenosine A2a receptor gene DOID:5419 schizophrenia ISO RGD:730999 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2049 Adora2a adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:4890358|PMID:20798237 20101215 RGD associated with Anemia, Sickle Cell 2049 Adora2a adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:4890364|PMID:18703794 20101215 RGD associated with Lung Injury 2049 Adora2a adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:4890376|PMID:17601796 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:594 panic disorder ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12825092 2049 Adora2a adenosine A2a receptor gene DOID:630 genetic disease ISO RGD:730999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2049 Adora2a adenosine A2a receptor gene DOID:670 amphetamine abuse ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 2049 Adora2a adenosine A2a receptor gene DOID:7148 rheumatoid arthritis ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 2049 Adora2a adenosine A2a receptor gene DOID:850 lung disease IDA D RGD:4890363|PMID:19487932 20101215 RGD Ventilator-Induced Lung Injury 2049 Adora2a adenosine A2a receptor gene DOID:850 lung disease IDA D RGD:4890383|PMID:16484904 20101215 RGD associated with Shock 2049 Adora2a adenosine A2a receptor gene DOID:850 lung disease ISO RGD:10092 D RGD:4890370|PMID:17617618 20101215 RGD Acute Lung Injury 2049 Adora2a adenosine A2a receptor gene DOID:8646 substance-induced psychosis ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 2049 Adora2a adenosine A2a receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4890378|PMID:17559837 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 2049 Adora2a adenosine A2a receptor gene DOID:9000495 Tremor ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16780890 2049 Adora2a adenosine A2a receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16783407 2049 Adora2a adenosine A2a receptor gene DOID:9001981 Weight Loss ISO RGD:730999 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 2049 Adora2a adenosine A2a receptor gene DOID:9002362 Hyperkinesis ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15187444 2049 Adora2a adenosine A2a receptor gene DOID:9004009 Reperfusion Injury IDA D RGD:4890367|PMID:17937935 20101215 RGD 2049 Adora2a adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:730999 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27757725 2049 Adora2a adenosine A2a receptor gene DOID:9004484 Sepsis ISO RGD:730999 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 2049 Adora2a adenosine A2a receptor gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20532872 2049 Adora2a adenosine A2a receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313805|PMID:16256246 20091016 RGD protein:increased expression:hippocampus 2049 Adora2a adenosine A2a receptor gene DOID:9006024 Hypotension ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1592228|PMID:15641640|PMID:18313046 2049 Adora2a adenosine A2a receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 2049 Adora2a adenosine A2a receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 2050 Adora2b adenosine A2B receptor gene DOID:630 genetic disease ISO RGD:731019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2050 Adora2b adenosine A2B receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731019 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27590504 2050 Adora2b adenosine A2B receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731019 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27757725 2050 Adora2b adenosine A2B receptor gene DOID:9004484 Sepsis ISO RGD:731019 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 2050 Adora2b adenosine A2B receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731019 D RGD:11554173 20230117 CTD CTD Direct Evidence: therapeutic PMID:35292334 2051 Adora3 adenosine A3 receptor gene DOID:0080600 COVID-19 ISO RGD:735600 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2051 Adora3 adenosine A3 receptor gene DOID:326 ischemia ISO RGD:735600 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7774659 2051 Adora3 adenosine A3 receptor gene DOID:5844 myocardial infarction ISO RGD:735600 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12160945|PMID:20132822 2051 Adora3 adenosine A3 receptor gene DOID:630 genetic disease ISO RGD:735600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2051 Adora3 adenosine A3 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735600 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2052 Adprh ADP-ribosylarginine hydrolase gene DOID:0080600 COVID-19 ISO RGD:732427 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2052 Adprh ADP-ribosylarginine hydrolase gene DOID:630 genetic disease ISO RGD:732427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2052 Adprh ADP-ribosylarginine hydrolase gene DOID:9007702 Carcinogenesis ISO RGD:10094 D RGD:13838723|PMID:21697277 20190109 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345118 D RGD:10413908|PMID:23260200 20151201 RGD mRNA,protein:increased expression, increased activity:fibroblast 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:0080855 Parkinsonism ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:15829224|PMID:28642177 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1345118 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210611 RGD human cells in a mouse model PMID:29408335|REF_RGD_ID:127284846 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210618 RGD human cells in mouse model PMID:32106377|REF_RGD_ID:127284886 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1059 intellectual disability ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:10413888|PMID:21616968 20151130 RGD protein:increased activity:brain: 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:5510011|PMID:22051244 20111118 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:10413885|PMID:17290104 20151130 RGD DNA:haplotypes: : 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:10413887|PMID:20486200 20151130 RGD DNA:haplotypes:cds:rs1136410,rs1805404 (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1074 kidney failure IEP D RGD:10413912|PMID:19833176 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:10952 nephritis ISO RGD:1345118 D RGD:1601085|PMID:16461442 20070405 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1551988 D RGD:5683903|PMID:19741160 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:11396 pulmonary edema ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: therapeutic PMID:11818323 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:127 leiomyoma treatment IEP D RGD:10413890|PMID:21896544 20151130 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:12858 Huntington's disease ISO RGD:1345118 D RGD:10413886|PMID:15668790 20151130 RGD protein:increased expression:neuron,astrocyte: 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1551988 D RGD:5683904|PMID:21596035 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:14115 toxic shock syndrome ISO RGD:1551988 D RGD:10414070|PMID:12445868 20151202 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1345118 D RGD:5510021|PMID:21767974 20111118 RGD DNA:snps:multiple (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345118 D RGD:5510024|PMID:17362997 20111118 RGD DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1345118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345118 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:21543585 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1909 melanoma ISO RGD:1345118 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28759004 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1551988 D RGD:5683916|PMID:18093987 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2237 hepatitis ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:2325713|PMID:19840223 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:2325713|PMID:19840223 20150928 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2316 brain ischemia ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2355 anemia ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2723 dermatitis ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:11073727|PMID:26205779 20160504 RGD protein:increased activation:lung, blood, mononuclear cell 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1551988 D RGD:5683910|PMID:12594058 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2841 asthma treatment ISO RGD:1551988 D RGD:11073727|PMID:26205779 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:2921 glomerulonephritis severity ISO RGD:1551988 D RGD:5684011|PMID:19454727 20111213 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3021 acute kidney failure ISO RGD:1551988 D RGD:5510015|PMID:21884784 20111118 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction IDA D RGD:13792686|PMID:25882840 20180920 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1551988 D RGD:5683909|PMID:21311064 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10054501|PMID:23143152 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1551988 D RGD:11073732|PMID:23801245 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345118 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27704718 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1551988 D RGD:10413908|PMID:23260200 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:417 autoimmune disease ISO RGD:1345118 D RGD:1601087|PMID:16026592 20070405 RGD coeliac disease 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551988 D RGD:1300264|PMID:10077636 19990101 RGD associated with Diabetes Mellitus, Experimental 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1345118 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:4989 pancreatitis ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:5082 liver cirrhosis ISO RGD:1345118 D RGD:11073733|PMID:25755481 20160504 RGD associated with Hepatitis B;mRNA:decreased expression:blood, mononuclear cell 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:5154 borna disease IEP D RGD:2316738|PMID:18057239 20151201 RGD mRNA,protein:increased expression,increased activity:neuron, glial cell: 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782341|PMID:29781318 20180905 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345118 D RGD:5683907|PMID:18716896 20111206 RGD DNA:snp:cds:p.V762A rs1136410 (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:552 pneumonia ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:557 kidney disease ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897|PMID:21884784 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:5844 myocardial infarction ISO RGD:1551988 D RGD:5684012|PMID:21282286 20111213 RGD protein:altered processing:left ventricle (mouse) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:6000 congestive heart failure treatment IMP D RGD:11074236|PMID:19443425 20160504 RGD associated with Hypertension 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:630 genetic disease ISO RGD:1345118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:18695907 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1345118 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:30354818 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:824 periodontitis ISO RGD:1551988 D RGD:10413909|PMID:14630900 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:848 arthritis ISO RGD:1345118 D RGD:1601085|PMID:16461442 20070405 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1345118 D RGD:10413911|PMID:21399558 20151201 RGD protein:increased expression:intestinal mucosa 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis severity IEP D RGD:10413911|PMID:21399558 20151201 RGD protein:increased expression:intestinal mucosa 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053608|PMID:21748659 20180802 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000310 Lung Injury ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000784 Fibrosis ISO RGD:1551988 D RGD:5683902|PMID:21613422 20111206 RGD associated with Ureteral Obstruction 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1551988 D RGD:10413909|PMID:14630900 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9000998 Brain Injuries ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551988 D RGD:11073737|PMID:20621183 20160504 RGD associated with Diabetes Mellitus, Experimental 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342424 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:1551988 D RGD:5684009|PMID:16356201 20111213 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9002514 Neointima IMP D RGD:10413907|PMID:15044192 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9003358 Kyphosis ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:5510020|PMID:21850691 20111118 RGD protein:increased expression:liver (rat) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:15696051|PMID:16798486 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1551988 D RGD:5510018|PMID:9390645 20111118 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1551988 D RGD:11075069|PMID:16127429 20160504 RGD associated with Pancreatitis, Experimental, Acute 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9005246 Paralysis ISO RGD:1345118 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9005372 Inflammation ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551988 D RGD:2312287|PMID:18657544 20151201 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:10413907|PMID:15044192 20151201 RGD protein:increased expression:blood vessel: 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1551988 D RGD:11075069|PMID:16127429 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345118 D RGD:11554173 20210601 CTD CTD Direct Evidence: therapeutic PMID:33771647 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551988 D RGD:11073735|PMID:23598272 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551988 D RGD:5683917|PMID:9670921 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345118 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27694308 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18676402 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1551988 D RGD:11074797|PMID:17182544 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345118 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345118 D RGD:11075068|PMID:15895395 20160504 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9470 bacterial meningitis susceptibility ISO RGD:1345118 D RGD:5683901|PMID:21651918 20111206 RGD DNA:snp:cds:p.V762A rs1136410 (human) 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9538 multiple myeloma ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21917757 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9743 diabetic neuropathy ISO RGD:1551988 D RGD:5510012|PMID:17976390 20111118 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9743 diabetic neuropathy ISO RGD:1551988 D RGD:5683915|PMID:21978940 20111206 RGD 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:987 alopecia ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2053 Parp1 poly (ADP-ribose) polymerase 1 gene DOID:9970 obesity ISO RGD:1345118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 2054 Adra1b adrenoceptor alpha 1B gene DOID:10763 hypertension ISO RGD:10096 D RGD:1625771|PMID:16095979 20070705 RGD 2054 Adra1b adrenoceptor alpha 1B gene DOID:11612 polycystic ovary syndrome IEP D RGD:5508374|PMID:15795180 20111013 RGD mRNA,protein:increased expression:ovary 2054 Adra1b adrenoceptor alpha 1B gene DOID:2018 hyperinsulinism ISO RGD:10096 D RGD:1625772|PMID:14581480 20070705 RGD 2054 Adra1b adrenoceptor alpha 1B gene DOID:2018 hyperinsulinism susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 2054 Adra1b adrenoceptor alpha 1B gene DOID:3602 toxic encephalopathy ISO RGD:733119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19125850 2054 Adra1b adrenoceptor alpha 1B gene DOID:557 kidney disease ISO RGD:733119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18257748 2054 Adra1b adrenoceptor alpha 1B gene DOID:630 genetic disease ISO RGD:733119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2054 Adra1b adrenoceptor alpha 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2054 Adra1b adrenoceptor alpha 1B gene DOID:9002955 Nerve Degeneration ISO RGD:733119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 2054 Adra1b adrenoceptor alpha 1B gene DOID:9003936 Cardiomegaly ISO RGD:733119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11278430|PMID:11940550 2054 Adra1b adrenoceptor alpha 1B gene DOID:9006024 Hypotension ISO RGD:733119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11278430 2054 Adra1b adrenoceptor alpha 1B gene DOID:9007692 Insulin Resistance ISO RGD:10096 D RGD:1625772|PMID:14581480 20070705 RGD 2054 Adra1b adrenoceptor alpha 1B gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 2055 Adra1a adrenoceptor alpha 1A gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736081 D RGD:5688374|PMID:114750 20120229 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:10763 hypertension IEP D RGD:1625770|PMID:16371063 20070705 RGD mRNA:decreased expression:aorta 2055 Adra1a adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:736081 D RGD:5688340|PMID:19011682 20120228 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:11612 polycystic ovary syndrome IEP D RGD:5508374|PMID:15795180 20111013 RGD mRNA,protein:increased expression:ovary 2055 Adra1a adrenoceptor alpha 1A gene DOID:13948 bladder neck obstruction IMP D RGD:5688368|PMID:20886573 20120229 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:1596 depressive disorder ISO RGD:736082 D RGD:5688369|PMID:19540213 20120229 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:5082 liver cirrhosis ISO RGD:736081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16782692 2055 Adra1a adrenoceptor alpha 1A gene DOID:630 genetic disease ISO RGD:736081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2055 Adra1a adrenoceptor alpha 1A gene DOID:684 hepatocellular carcinoma ISO RGD:736081 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2055 Adra1a adrenoceptor alpha 1A gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5688371|PMID:16524515 20120229 RGD mRNA:increased expression:aorta 2055 Adra1a adrenoceptor alpha 1A gene DOID:9000998 Brain Injuries IEP D RGD:5688366|PMID:20974230 20120229 RGD mRNA:increased expression:frontal cortex 2055 Adra1a adrenoceptor alpha 1A gene DOID:9002211 Hyperalgesia IEP D RGD:5688377|PMID:10841349 20120229 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:dorsal root ganglion 2055 Adra1a adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625775|PMID:17054657 20070705 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19133277 2055 Adra1a adrenoceptor alpha 1A gene DOID:9006024 Hypotension IDA D RGD:1625780|PMID:12433595 20070705 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:9006880 Urinary Incontinence IMP D RGD:5688352|PMID:16890732 20120228 RGD 2055 Adra1a adrenoceptor alpha 1A gene DOID:9007174 Ventricular Remodeling ISO RGD:736081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20668454 2055 Adra1a adrenoceptor alpha 1A gene DOID:9008023 Memory Disorders IDA D RGD:5688366|PMID:20974230 20120229 RGD associated with brain injuries 2056 Adra2a adrenoceptor alpha 2A gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:737381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 2056 Adra2a adrenoceptor alpha 2A gene DOID:10763 hypertension IEP D RGD:6480490|PMID:20691504 20120326 RGD mRNA:decreased expression:adrenal gland medulla 2056 Adra2a adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10694191 2056 Adra2a adrenoceptor alpha 2A gene DOID:10763 hypertension no_association ISO RGD:737381 D RGD:1625183|PMID:16636200 20070528 RGD DNA:polymorphism 2056 Adra2a adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:1559309|PMID:16178932 19990101 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:6480484|PMID:19150055 20120323 RGD DNA:polymorphism: :-1291C>G (human) 2056 Adra2a adrenoceptor alpha 2A gene DOID:114 heart disease ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 2056 Adra2a adrenoceptor alpha 2A gene DOID:1596 depressive disorder IMP D RGD:6480482|PMID:20047711 20120323 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:1826 epilepsy ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17341653 2056 Adra2a adrenoceptor alpha 2A gene DOID:2030 anxiety disorder IMP D RGD:6480479|PMID:21669254 20120323 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:594 panic disorder ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14656453 2056 Adra2a adrenoceptor alpha 2A gene DOID:630 genetic disease ISO RGD:737381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2056 Adra2a adrenoceptor alpha 2A gene DOID:9000784 Fibrosis ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20083574 2056 Adra2a adrenoceptor alpha 2A gene DOID:9002211 Hyperalgesia IMP D RGD:6480488|PMID:17959985 20120326 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:9003936 Cardiomegaly ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20083574 2056 Adra2a adrenoceptor alpha 2A gene DOID:9004484 Sepsis disease_progression IMP D RGD:6480483|PMID:19894027 20120323 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:9004610 Acute Lung Injury IEP D RGD:6480481|PMID:21542970 20120323 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:9005930 Endotoxemia onset IEP D RGD:6480487|PMID:20302880 20120326 RGD mRNA:increased expression:spleen 2056 Adra2a adrenoceptor alpha 2A gene DOID:9005968 Neuralgia IEP D RGD:6893571|PMID:12946573 20120907 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:9006024 Hypotension ISO RGD:737381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16595736|PMID:18849358 2056 Adra2a adrenoceptor alpha 2A gene DOID:9007428 Muscle Spasticity IEP D RGD:6480106|PMID:21871540 20120314 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:9008820 Visceral Pain IMP D RGD:6480482|PMID:20047711 20120323 RGD 2056 Adra2a adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2316628|PMID:19965390 20120326 RGD mRNA, protein:increased expression:pancreatic islet 2056 Adra2a adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737381 D RGD:2316628|PMID:19965390 20120326 RGD DNA:SNP:3' utr:rs553668 (human) 2056 Adra2a adrenoceptor alpha 2A gene DOID:9970 obesity ISO RGD:737381 D RGD:1331525|PMID:15118671 19990101 GAD 2057 Adra2b adrenoceptor alpha 2B gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:731080 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 2057 Adra2b adrenoceptor alpha 2B gene DOID:1059 intellectual disability ISO RGD:731080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 2057 Adra2b adrenoceptor alpha 2B gene DOID:1059 intellectual disability ISO RGD:731080 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2057 Adra2b adrenoceptor alpha 2B gene DOID:10763 hypertension IMP D RGD:2313548|PMID:17070424 20090930 RGD 2057 Adra2b adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:731080 D RGD:2313541|PMID:18953403 20090930 RGD DNA:polymorphism (human) 2057 Adra2b adrenoceptor alpha 2B gene DOID:1826 epilepsy ISO RGD:731080 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2057 Adra2b adrenoceptor alpha 2B gene DOID:5419 schizophrenia ISO RGD:731080 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2057 Adra2b adrenoceptor alpha 2B gene DOID:5844 myocardial infarction ISO RGD:731080 D RGD:1559314|PMID:12535806 19990101 RGD 2057 Adra2b adrenoceptor alpha 2B gene DOID:630 genetic disease ISO RGD:731080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2057 Adra2b adrenoceptor alpha 2B gene DOID:684 hepatocellular carcinoma ISO RGD:731080 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2057 Adra2b adrenoceptor alpha 2B gene DOID:850 lung disease ISO RGD:731080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 2057 Adra2b adrenoceptor alpha 2B gene DOID:9000781 Cyanosis ISO RGD:731080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 2057 Adra2b adrenoceptor alpha 2B gene DOID:9002165 Diabetic Nephropathies ISO RGD:731080 D RGD:2313545|PMID:15660746 20090930 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human) 2057 Adra2b adrenoceptor alpha 2B gene DOID:9007925 Sudden Cardiac Death ISO RGD:731080 D RGD:1559314|PMID:12535806 19990101 RGD 2057 Adra2b adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:731080 D RGD:2313543|PMID:17277585 20090930 RGD DNA:polymorphism (human) 2057 Adra2b adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731080 D RGD:2313544|PMID:17039423 20090930 RGD DNA:polymorphism (human) 2057 Adra2b adrenoceptor alpha 2B gene DOID:9743 diabetic neuropathy ISO RGD:731080 D RGD:2313542|PMID:17516297 20090930 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism (human) 2057 Adra2b adrenoceptor alpha 2B gene DOID:9970 obesity ISO RGD:731080 D RGD:1300265|PMID:10404816 19990101 RGD 2058 Adra2c adrenoceptor alpha 2C gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737142 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 2058 Adra2c adrenoceptor alpha 2C gene DOID:6000 congestive heart failure ISO RGD:737142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374873 2058 Adra2c adrenoceptor alpha 2C gene DOID:6000 congestive heart failure ISO RGD:737142 D RGD:1300355|PMID:12374873 19990101 RGD DNA:deletion: :322_325del(human) 2058 Adra2c adrenoceptor alpha 2C gene DOID:6000 congestive heart failure ISO RGD:737142 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:12374873|PMID:17496726 2058 Adra2c adrenoceptor alpha 2C gene DOID:630 genetic disease ISO RGD:737142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2058 Adra2c adrenoceptor alpha 2C gene DOID:9000784 Fibrosis ISO RGD:737142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083574 2058 Adra2c adrenoceptor alpha 2C gene DOID:9002211 Hyperalgesia IMP D RGD:6893568|PMID:20007733 20120907 RGD 2058 Adra2c adrenoceptor alpha 2C gene DOID:9003936 Cardiomegaly ISO RGD:737142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083574 2058 Adra2c adrenoceptor alpha 2C gene DOID:9005968 Neuralgia IEP D RGD:6893571|PMID:12946573 20120907 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:731289 D RGD:4145102|PMID:20948559 20101025 RGD associated with Hypertension;DNA:polymorphism: :p.R389G (human) 2059 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension IEP D RGD:5129127|PMID:19060223 20110324 RGD protein:increased expression:aorta 2059 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9260993|PMID:10673262 2059 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:7241549|PMID:20398560 20130308 RGD associated with Diabetes Mellitus, Type 2; 2059 Adrb1 adrenoceptor beta 1 gene DOID:11664 nephrosclerosis disease_progression ISO RGD:731289 D RGD:7241815|PMID:19745105 20130315 RGD associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human): 2059 Adrb1 adrenoceptor beta 1 gene DOID:1287 cardiovascular system disease ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 2059 Adrb1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy IMP D RGD:5129132|PMID:18287209 20110324 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 2059 Adrb1 adrenoceptor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 2059 Adrb1 adrenoceptor beta 1 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:731289 D RGD:8548468|PMID:16785856 20140305 RGD DNA:polymorphism:cds:p.R389G(human) 2059 Adrb1 adrenoceptor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:731289 D RGD:5129107|PMID:20203292 20110323 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:1591 renovascular hypertension IDA D RGD:7241580|PMID:15592645 20130312 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:1591 renovascular hypertension IMP D RGD:7241568|PMID:17278011 20130311 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:1712 aortic valve stenosis ISO RGD:731289 D RGD:7241565|PMID:1648674 20130311 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731289 D RGD:5129114|PMID:11527135 20110323 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 2059 Adrb1 adrenoceptor beta 1 gene DOID:4195 hyperglycemia IEP D RGD:6893641|PMID:21831645 20120913 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart 2059 Adrb1 adrenoceptor beta 1 gene DOID:5844 myocardial infarction IMP D RGD:7241557|PMID:17143192 20130311 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:5844 myocardial infarction ISO RGD:731289 D RGD:1331525|PMID:15118671 19990101 GAD 2059 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure IMP D RGD:5129119|PMID:19587314 20110323 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7586371|PMID:12374873|PMID:14502278|PMID:15816327|PMID:21516734 2059 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:737774|PMID:14502278 19990101 RGD DNA:polymorphism: :p.R389G (human) 2059 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:8554872 20150714 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 2059 Adrb1 adrenoceptor beta 1 gene DOID:630 genetic disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2059 Adrb1 adrenoceptor beta 1 gene DOID:824 periodontitis IMP D RGD:5129135|PMID:18275933 20110324 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:731289 D RGD:7241545|PMID:21958237 20120913 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 2059 Adrb1 adrenoceptor beta 1 gene DOID:9000483 Angina Pectoris ISO RGD:731289 D RGD:5129114|PMID:11527135 20110323 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5129118|PMID:19785950 20110323 RGD mRNA, protein:increased expression:liver 2059 Adrb1 adrenoceptor beta 1 gene DOID:9002211 Hyperalgesia IMP D RGD:5129125|PMID:19283893 20110324 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9003996 Birth Weight ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 2059 Adrb1 adrenoceptor beta 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:5129116|PMID:20451506 20110323 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:7241557|PMID:17143192 20130311 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731289 D RGD:7241563|PMID:8181801 20130311 RGD protein:decreased expression:left ventricle: 2059 Adrb1 adrenoceptor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5129115|PMID:21054861 20110323 RGD protein:decreased expression:left ventricle muscular part 2059 Adrb1 adrenoceptor beta 1 gene DOID:9006450 Familial Natural Short Sleep 2 ISO RGD:731289 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 PMID:31473062 2059 Adrb1 adrenoceptor beta 1 gene DOID:9007039 Ventricular Dysfunction ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 2059 Adrb1 adrenoceptor beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 2059 Adrb1 adrenoceptor beta 1 gene DOID:9007278 Anaphylaxis disease_progression IMP D RGD:6893644|PMID:20959119 20120913 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:5129149|PMID:17201736 20110324 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10900253 2059 Adrb1 adrenoceptor beta 1 gene DOID:9009039 Hyperemia ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 2059 Adrb1 adrenoceptor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18378355 2059 Adrb1 adrenoceptor beta 1 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:6893642|PMID:21491159 20120913 RGD 2059 Adrb1 adrenoceptor beta 1 gene DOID:9970 obesity ISO RGD:731289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12032746 2060 Adrb2 adrenoceptor beta 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733595 D RGD:1601124|PMID:16082424 20070406 RGD dyslipidemias;DNA:polymorphism: :p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 2060 Adrb2 adrenoceptor beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733595 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2060 Adrb2 adrenoceptor beta 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2060 Adrb2 adrenoceptor beta 2 gene DOID:1067 open-angle glaucoma severity ISO RGD:733595 D RGD:8548468|PMID:16785856 20140305 RGD DNA:polymprphism:cds:p.Q27E(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:1070 primary open angle glaucoma onset ISO RGD:733595 D RGD:8548468|PMID:16785856 20140305 RGD DNA:polymprphism:cds:p.R16G(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension IEP D RGD:7175287|PMID:2471888 20121129 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:1331525|PMID:15118671 20140211 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:1578728|PMID:16041242 20180205 RGD DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:4144883|PMID:20739939 20101020 RGD DNA:polymorphisms: :46A>G, 79C>G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:7175066|PMID:20484896 20121126 RGD associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension no_association ISO RGD:733595 D RGD:1601119|PMID:17221209 20070406 RGD DNA:polymorphisms: :p.R16G, p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:733595 D RGD:1601123|PMID:16685203 20070406 RGD DNA:polymorphisms 2060 Adrb2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema IMP D RGD:5129128|PMID:18987456 20110324 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:733595 D RGD:4144884|PMID:20546540 20101020 RGD DNA:SNPs: :46A>G, 79C>G and 523C>A (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:10109 D RGD:8548489|PMID:19912227 20140306 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:11612 polycystic ovary syndrome IEP D RGD:5508374|PMID:15795180 20111013 RGD mRNA,protein:decreased expression:ovary 2060 Adrb2 adrenoceptor beta 2 gene DOID:1168 familial hyperlipidemia ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 2060 Adrb2 adrenoceptor beta 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:733595 D RGD:8548467|PMID:17143563 20140305 RGD DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:12849 autistic disorder ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199132 2060 Adrb2 adrenoceptor beta 2 gene DOID:1287 cardiovascular system disease ISO RGD:733595 D RGD:1331525|PMID:15118671 20140211 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy IDA D RGD:5129132|PMID:18287209 20110324 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11986409 2060 Adrb2 adrenoceptor beta 2 gene DOID:13949 interstitial cystitis susceptibility ISO RGD:733595 D RGD:7175285|PMID:12442007 20121129 RGD DNA:polymorphism:cds:p.R16G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:733595 D RGD:8548487|PMID:19850944 20140306 RGD DNA:polymorphism: :rs1042717(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome treatment ISO RGD:733595 D RGD:8548529|PMID:16076286 20140310 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:1459 hypothyroidism IEP D RGD:8548533|PMID:1651697 20140310 RGD mRNA,protein:decreased expression:brown adipose tissue, heart: 2060 Adrb2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:4145099|PMID:17502834 20101025 RGD DNA:polymorphisms (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:5129107|PMID:20203292 20110323 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:1555 urticaria susceptibility ISO RGD:733595 D RGD:8548486|PMID:18159608 20140306 RGD DNA:polymorphism: :46A>G(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2723 dermatitis susceptibility ISO RGD:733595 D RGD:8548494|PMID:16955193 20140307 RGD DNA:polymorphism:cds:p.Q27E(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:10109 D RGD:4145107|PMID:19423772 20101025 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:1331525|PMID:15118671 19990101 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:4145061|PMID:19800676 20101021 RGD DNA:polymorphism: :p.R16G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:4145092|PMID:19029431 20101025 RGD DNA:polymorphism: :p.R16G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:4145094|PMID:18785519 20101025 RGD DNA:SNPs: :p.R16G, p.Q27E (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:4145096|PMID:18569231 20101025 RGD DNA:SNP: :p.Q27E (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:4145105|PMID:20004781 20101025 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:4145108|PMID:20443840 20101025 RGD DNA:SNPs:promoter:multiple (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:5129113|PMID:1655856 20110323 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 2060 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma susceptibility ISO RGD:733595 D RGD:4145081|PMID:19638684 20101025 RGD DNA:SNP: :-1023A>G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:2942 bronchiolitis ISO RGD:733595 D RGD:4145098|PMID:17687719 20101025 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure IEP D RGD:7175276|PMID:14747378 20121129 RGD associated with endotoxemia; protein:increased expression:kidney 2060 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure IMP D RGD:7175283|PMID:19020966 20121129 RGD associated with Endotoxemia; 2060 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:733595 D RGD:7175276|PMID:14747378 20121129 RGD associated with endotoxemia; protein:increased expression:kidney 2060 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure treatment ISO RGD:733595 D RGD:7175281|PMID:19887504 20121129 RGD associated with Bacteremia; 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:4140935|PMID:20525719 20101020 RGD DNA:SNPs: :rs1042717, rs1042718 (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:4144899|PMID:20211002 20101021 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:4145093|PMID:18789663 20101025 RGD DNA:SNP: :p.R16G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:5129114|PMID:11527135 20110323 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:733595 D RGD:4145086|PMID:19080468 20101025 RGD protein:decreased expression:blood, sputum, mononuclear cell 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733595 D RGD:4145082|PMID:19293197 20101025 RGD DNA:polymorphism: :p.Q27E (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:4145080|PMID:19747908 20101025 RGD DNA:SNP: :p.R16G (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:4145095|PMID:18667995 20101025 RGD DNA:SNPs: :p.R16G, p.Q27E (human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:437 myasthenia gravis ISO RGD:733595 D RGD:8548470|PMID:10606977 20140305 RGD DNA:polymorphisms:cds:p.R16G,Q27E(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:4500 hypokalemia ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1848636|PMID:2826064|PMID:17292646 2060 Adrb2 adrenoceptor beta 2 gene DOID:4947 cholangiocarcinoma ISO RGD:733595 D RGD:2325640|PMID:16292515 20100603 RGD protein:decreased expression:liver 2060 Adrb2 adrenoceptor beta 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733595 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 2060 Adrb2 adrenoceptor beta 2 gene DOID:552 pneumonia IDA D RGD:4145041|PMID:19925785 20101021 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:557 kidney disease IMP D RGD:7175274|PMID:20349426 20121129 RGD Associated with Escherichia coli infection; 2060 Adrb2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction IEP D RGD:8548519|PMID:12400771 20140310 RGD mRNA:decreased expression:heart 2060 Adrb2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:733595 D RGD:1601126|PMID:15520258 20070406 RGD DNA:polymorphisms: :p.G16R, p.Q27E, p.T164I 2060 Adrb2 adrenoceptor beta 2 gene DOID:6000 congestive heart failure IDA D RGD:5129119|PMID:19587314 20110323 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:6000 congestive heart failure IEP D RGD:4144900|PMID:20185685 20101021 RGD protein:altered localization:cardiac muscle cell 2060 Adrb2 adrenoceptor beta 2 gene DOID:6000 congestive heart failure ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 2060 Adrb2 adrenoceptor beta 2 gene DOID:630 genetic disease ISO RGD:733595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2060 Adrb2 adrenoceptor beta 2 gene DOID:646 viral encephalitis ISO RGD:733595 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 2060 Adrb2 adrenoceptor beta 2 gene DOID:783 end stage renal disease ISO RGD:733595 D RGD:7175286|PMID:9730702 20121129 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:820 myocarditis IMP D RGD:5129151|PMID:16908771 20110324 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:850 lung disease ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 2060 Adrb2 adrenoceptor beta 2 gene DOID:8577 ulcerative colitis IEP D RGD:7175063|PMID:22772914 20121126 RGD protein:decreased expression:large intestine mucosa,spleen 2060 Adrb2 adrenoceptor beta 2 gene DOID:863 nervous system disease ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 2060 Adrb2 adrenoceptor beta 2 gene DOID:8893 psoriasis ISO RGD:733595 D RGD:8548488|PMID:8763426 20140306 RGD mRNA:decreased expression:epidermis: 2060 Adrb2 adrenoceptor beta 2 gene DOID:8893 psoriasis susceptibility ISO RGD:733595 D RGD:8548492|PMID:15265530 20140307 RGD DNA:polymorphism:cds:p.R16G(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 2060 Adrb2 adrenoceptor beta 2 gene DOID:9000483 Angina Pectoris ISO RGD:733595 D RGD:5129114|PMID:11527135 20110323 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9000495 Tremor ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:190674|PMID:7902979|PMID:8102213|PMID:9151294 2060 Adrb2 adrenoceptor beta 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:733595 D RGD:1601128|PMID:12682000 20070406 RGD DNA:polymorphism: :p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:9000784 Fibrosis ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 2060 Adrb2 adrenoceptor beta 2 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:733595 D RGD:8548469|PMID:17621827 20140305 RGD DNA:polymorphism:p.R16G(human) 2060 Adrb2 adrenoceptor beta 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5129118|PMID:19785950 20110323 RGD mRNA, protein:increased expression:liver 2060 Adrb2 adrenoceptor beta 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 2060 Adrb2 adrenoceptor beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18454446 2060 Adrb2 adrenoceptor beta 2 gene DOID:9003637 Vestibulocochlear Nerve Injuries IEP D RGD:8548530|PMID:22178544 20140310 RGD mRNA:increased expression:Vestibulocochlear nerve: 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004009 Reperfusion Injury IDA D RGD:1598754|PMID:14630341 20061218 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004009 Reperfusion Injury IDA D RGD:4145097|PMID:18336819 20101025 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004086 AIDS Dementia Complex ISO RGD:733595 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733595 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004484 Sepsis IDA D RGD:1598745|PMID:16603198 20061218 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004484 Sepsis IEP D RGD:8548498|PMID:10409266 20140307 RGD mRNA,protein:decreased expression:liver: 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733595 D RGD:1601120|PMID:17178264 20070406 RGD associated with hypertension;DNA:polymorphism: :p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:733595 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to PMID:11739457|PMID:14557466|PMID:15500895|PMID:15867853|PMID:16596417|PMID:28492532|PMID:7706471|PMID:9399946|PMID:9399966|PMID:9522789 2060 Adrb2 adrenoceptor beta 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:733595 D RGD:1601121|PMID:17020471 20070406 RGD DNA:polymorphism: :p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:733595 D RGD:1331525|PMID:15118671 19990101 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:733595 D RGD:1331525|PMID:15118671 19990101 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:733595 D RGD:1601127|PMID:14557466 20070406 RGD DNA:polymorphisms: :p.R16G, p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2060 Adrb2 adrenoceptor beta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 2060 Adrb2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance IDA D RGD:1598757|PMID:11510954 20061218 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19034036 2060 Adrb2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:1601125|PMID:15699455 20070406 RGD DNA:polymorphism: :p.R16G 2060 Adrb2 adrenoceptor beta 2 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1598746|PMID:16269402 20061218 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9008691 Liver Injury IEP D RGD:8548508|PMID:8855951 20140307 RGD mRNA:increased expression:liver: 2060 Adrb2 adrenoceptor beta 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733595 D RGD:1331525|PMID:15118671 19990101 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733595 D RGD:1331525|PMID:15118671 19990101 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733595 D RGD:1601119|PMID:17221209 20070406 RGD DNA:polymorphisms: :p.R16G, p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:9452 fatty liver disease ISO RGD:733595 D RGD:1559320|PMID:11718682 19990101 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:10109 D RGD:737773|PMID:12161655 20150304 RGD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:733595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15687340 2060 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:733595 D RGD:1331525|PMID:15118671 20140211 GAD 2060 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity no_association ISO RGD:733595 D RGD:1601119|PMID:17221209 20070406 RGD DNA:polymorphisms: :p.R16G, p.Q27E 2060 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity susceptibility ISO RGD:733595 D RGD:1601122|PMID:17027833 20070406 RGD DNA:polymorphisms: :p.R16G, p.Q27E 2061 Adrb3 adrenoceptor beta 3 gene DOID:0060180 colitis IEP D RGD:5684890|PMID:18492028 20120104 RGD mRNA:decreased expression:distal colon, mucosa (rat) 2061 Adrb3 adrenoceptor beta 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737467 D RGD:5684892|PMID:15318095 20120104 RGD DNA:missense mutation:cds:p.W64R (rs4994) (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 2061 Adrb3 adrenoceptor beta 3 gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:737467 D RGD:5684357|PMID:20123316 20111215 RGD DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 2061 Adrb3 adrenoceptor beta 3 gene DOID:10652 Alzheimer's disease ISO RGD:737467 D RGD:2311642|PMID:17440948 20111219 RGD DNA:missense mutation:cds:p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:10763 hypertension ISO RGD:737467 D RGD:2313166|PMID:10981554 20090911 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:11612 polycystic ovary syndrome IEP D RGD:2313167|PMID:19158405 20090911 RGD mRNA:increased expression:gastrointestinal system mesentery, adipose tissue 2061 Adrb3 adrenoceptor beta 3 gene DOID:1168 familial hyperlipidemia ISO RGD:737467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 2061 Adrb3 adrenoceptor beta 3 gene DOID:13025 retinopathy of prematurity ISO RGD:10110 D RGD:5684355|PMID:20739470 20111215 RGD protein:increased expression:retina (mouse) 2061 Adrb3 adrenoceptor beta 3 gene DOID:13189 gout ISO RGD:737467 D RGD:5684422|PMID:21285172 20111220 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:1380 endometrial cancer susceptibility ISO RGD:737467 D RGD:2313164|PMID:15743038 20090911 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:1485 cystic fibrosis ISO RGD:737467 D RGD:5129107|PMID:20203292 20110323 RGD protein:increased expression:bronchus 2061 Adrb3 adrenoceptor beta 3 gene DOID:2018 hyperinsulinism ISO RGD:10110 D RGD:2313165|PMID:11014217 20090911 RGD associated with Obesity;mRNA:decreased expression:epidydimis, white fat 2061 Adrb3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease ISO RGD:737467 D RGD:1559325|PMID:9126344 19990101 RGD DNA:missense mutation:cds:p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease no_association ISO RGD:737467 D RGD:5684412|PMID:11229427 20111219 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure IEP D RGD:5684917|PMID:21549119 20120104 RGD protein:increased expression:heart ventricle (rat) 2061 Adrb3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15009959|PMID:17440824 2061 Adrb3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:5684398|PMID:11273992 20111219 RGD protein:increased expression:left ventricle, myocardium (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:607 paraplegia ISO RGD:737467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 2061 Adrb3 adrenoceptor beta 3 gene DOID:630 genetic disease ISO RGD:737467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2061 Adrb3 adrenoceptor beta 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737467 D RGD:5684893|PMID:12739037 20120104 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:737467 D RGD:5684400|PMID:9313761 20111219 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9000099 Experimental Colitis no_association IEP D RGD:5684894|PMID:11803250 20120104 RGD mRNA:unaltered expression:colon (rat) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease ISO RGD:737467 D RGD:1331525|PMID:15118671 19990101 GAD 2061 Adrb3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease ISO RGD:737467 D RGD:1559326|PMID:10421225 19990101 RGD 2061 Adrb3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737467 D RGD:5684776|PMID:20536507 20120103 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994(human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5129118|PMID:19785950 20110323 RGD mRNA, protein:increased expression:liver 2061 Adrb3 adrenoceptor beta 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737467 D RGD:5684403|PMID:9867224 20111219 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9004484 Sepsis ISO RGD:737467 D RGD:2292119|PMID:17999941 20120104 RGD mRNA, protein:increased expression:heart left ventricle (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 2061 Adrb3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5129115|PMID:21054861 20110323 RGD protein:increased expression:left ventricle muscular part 2061 Adrb3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17622774 2061 Adrb3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:2313158|PMID:17299491 20090911 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:5684421|PMID:10582543 20111220 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance no_association ISO RGD:737467 D RGD:1559326|PMID:10421225 19990101 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:737467 D RGD:5684895|PMID:10930169 20120104 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737467 D RGD:2313148|PMID:19659999 20090910 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737467 D RGD:2313163|PMID:16444766 20090911 RGD DNA:missense mutation: :p.I62M (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737467 D RGD:2313149|PMID:17727676 20090910 RGD DNA:polymorphism: :p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:10110 D RGD:5684359|PMID:19373220 19990101 RGD mRNA:decreased expression:interscapular region, brown adipose tissue (mouse) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:1559325|PMID:9126344 19990101 RGD DNA:missense mutation:cds:p.W64R (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:5684773|PMID:9892244 20120103 RGD DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:10323390|PMID:10323402|PMID:10999801|PMID:11095426|PMID:15472194|PMID:25741868|PMID:7609750|PMID:7609752|PMID:8903328|PMID:8954053|PMID:9054940|PMID:9100608|PMID:9112025|PMID:9449691|PMID:9709965|PMID:9814483|PMID:9892244 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity no_association ISO RGD:737467 D RGD:5684409|PMID:11882399 20111219 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) 2061 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity susceptibility ISO RGD:737467 D RGD:7240710 20230505 OMIM 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731036 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:33200460 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731036 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:17008600 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:0050852 limb ischemia treatment IMP D RGD:13514042|PMID:26604244 20180321 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:1059 intellectual disability ISO RGD:731036 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension IEP D RGD:1580269|PMID:16142243 20070705 RGD protein:increased expression:endothelial cell, liver sinusoid 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension treatment IEP D RGD:13514048|PMID:25469036 20180322 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension IEP D RGD:1625788|PMID:10642272 20070705 RGD protein:increased expression:lymphocyte, vascular associated smooth muscle cell 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:731036 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension treatment IEP D RGD:13792716|PMID:23913704 20180921 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:14115 toxic shock syndrome ISO RGD:731036 D RGD:126848796|PMID:24465168 20210503 RGD mRNA:decreased expression:polymorphonuclear leukocyte 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:14330 Parkinson's disease IEP D RGD:5685370|PMID:17996024 20120301 RGD Protein: decreased expression: brain 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:1875 impotence IMP D RGD:13792691|PMID:30226217 20180920 RGD associated with Diabetes Mellitus, Experimental 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:3042 allergic contact dermatitis ISO RGD:731036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:3829 pituitary adenoma ISO RGD:731036 D RGD:13792706|PMID:24169548 20180921 RGD mRNA:altered expression:pituitary gland (human) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:4195 hyperglycemia IDA D RGD:1625789|PMID:16478977 20070705 RGD associated with Diabetes Mellitus, Experimental 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:5082 liver cirrhosis ISO RGD:731036 D RGD:13792718|PMID:23742775 20180921 RGD associated with hepatitis B;protein:increased expression:mesenteric artery (human) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure IEP D RGD:1625790|PMID:9931137 20070705 RGD associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:10111 D RGD:737776|PMID:11331748 19990101 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:11535540|PMID:26248277 20180321 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure treatment IEP D RGD:13506830|PMID:29247373 20180220 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:630 genetic disease ISO RGD:731036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10111 D RGD:5688373|PMID:18662895 20120229 RGD DNA: deletion: : heterozygous 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:5688380|PMID:10094932 20120229 RGD protein: decreased expression: mononuclear cells 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:874 bacterial pneumonia ISO RGD:731036 D RGD:126848796|PMID:24465168 20210503 RGD mRNA:decreased expression:polymorphonuclear leukocyte 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9000352 Vascular System Injuries IEP D RGD:13513975|PMID:28653218 20180314 RGD protein:increased expression:aorta (rat) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1625784|PMID:17256744 20070705 RGD protein:increased expression:aorta 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792785|PMID:23196710 20180928 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia severity IMP D RGD:13792780|PMID:22796071 20180927 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment IDA D RGD:13513996|PMID:26935064 20180320 RGD associated with bone cancer 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment IEP D RGD:13514049|PMID:25466829 20180322 RGD associated with Complex Regional Pain Syndromes 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13514046|PMID:26064176 20180322 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:13792695|PMID:30024944 20180920 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:13513975|PMID:28653218 20180314 RGD protein:increased expression:aorta (rat) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis disease_progression IEP D RGD:13513979|PMID:28349925 20180314 RGD protein:altered expression:T cell (rat) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:13513976|PMID:28631356 20180314 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731036 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:10111 D RGD:13792712|PMID:23969695 20180921 RGD protein:increased expression:heart left ventricle (mouse) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731036 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly severity ISO RGD:10111 D RGD:11052788|PMID:25982117 20180322 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004484 Sepsis ISO RGD:731036 D RGD:5688378|PMID:16849637 20120229 RGD protein: increased expression: neutrophils 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10111 D RGD:737775|PMID:9618528 19990101 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731036 D RGD:1625786|PMID:15097244 20070705 RGD associated with Hypertension;protein:increased expression:lymphocyte 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy severity ISO RGD:10111 D RGD:13513977|PMID:28759639 20180314 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy treatment IMP D RGD:11534182|PMID:26224342 20180322 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:731036 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731036 D RGD:13792719|PMID:23727505 20180921 RGD protein:decreased expression:prefrontal cortex (human) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9005835 Congenital Abnormalities ISO RGD:731036 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9005968 Neuralgia treatment IEP D RGD:13792703|PMID:24216329 20180921 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:13792786|PMID:23124027 20180928 RGD protein:increased activity:heart right ventricel (rat) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9006202 Pruritus severity ISO RGD:10111 D RGD:13513974|PMID:29530536 20180314 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10111 D RGD:1625791|PMID:15994203 20070705 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007730 Burns IEP D RGD:13506829|PMID:29232706 20180220 RGD mRNA:increased expression:heart left ventricle (rat) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10111 D RGD:13792779|PMID:23467820 20180927 RGD protein:increased expression:heart, mitochondrion (mouse) 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:10111 D RGD:13792704|PMID:24170934 20180921 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10111 D RGD:13513993|PMID:27601479 20180320 RGD 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13513995|PMID:27296507 20180320 RGD associated with Hypertension 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:13513990|PMID:27865836 20180320 RGD associated with Diabetes Mellitus, Experimental 2062 Grk2 G protein-coupled receptor kinase 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:10763 hypertension IEP D RGD:11535540|PMID:26248277 20180321 RGD mRNA:increased expression:heart left ventricle, kidney (rat) 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:14330 Parkinson's disease IEP D RGD:5685370|PMID:17996024 20120110 RGD protein:decreased expression:caudate putamen (rat) 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:1459 hypothyroidism IEP D RGD:5685027|PMID:19728039 20120109 RGD mRNA:increased expression:heart (rat) 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12808434 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:5685029|PMID:19400979 20120109 RGD mRNA, protein:decreased expression:frontal cortex (human) 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:6000 congestive heart failure severity ISO RGD:730840 D RGD:13506835|PMID:22685168 20180220 RGD mRNA:decreased expression:heart left ventricle (human) 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:630 genetic disease ISO RGD:730840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792785|PMID:23196710 20180928 RGD 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:9003936 Cardiomegaly IEP D RGD:5685025|PMID:20677219 20120109 RGD mRNA:increased expression:heart left ventricle (rat) 2063 Grk3 G protein-coupled receptor kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730840 D RGD:13792719|PMID:23727505 20180921 RGD protein:decreased expression:prefrontal cortex (human) 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050144 Kartagener syndrome ISS RGD:737610 D RGD:13592920 20180518 MouseDO 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050545 visceral heterotaxy ISS RGD:737610 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1350470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1350470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30367527 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:1350470 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:7240710 20200422 OMIM 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome PMID:25741868|PMID:31630788|PMID:31630791|PMID:32969855|PMID:33349978|PMID:33452671|PMID:35144013 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 2064 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9562 primary ciliary dyskinesia ISS RGD:737610 D RGD:13592920 20180518 MouseDO 2065 Afp alpha-fetoprotein gene DOID:10283 prostate cancer ISO RGD:736278 D RGD:2292038|PMID:17932343 20080409 RGD protein:increased expression:serum 2065 Afp alpha-fetoprotein gene DOID:1380 endometrial cancer severity ISO RGD:736278 D RGD:2292039|PMID:17659325 20080721 RGD protein:increased expression:serum 2065 Afp alpha-fetoprotein gene DOID:1883 hepatitis C treatment ISO RGD:736278 D RGD:126790581|PMID:25914481 20210427 RGD 2065 Afp alpha-fetoprotein gene DOID:1911 endodermal sinus tumor ISO RGD:736278 D RGD:2292040|PMID:17525908 20080409 RGD protein:increased expression:serum 2065 Afp alpha-fetoprotein gene DOID:2237 hepatitis IEP D RGD:126848736|PMID:2459091 20210428 RGD protein:increased expression:serum, liver oval cell 2065 Afp alpha-fetoprotein gene DOID:3305 teratocarcinoma ISO RGD:736278 D RGD:2292041|PMID:68943 20080409 RGD protein:increased expression:serum 2065 Afp alpha-fetoprotein gene DOID:3308 embryonal carcinoma ISO RGD:736278 D RGD:2292041|PMID:68943 20080409 RGD protein:increased expression:serum 2065 Afp alpha-fetoprotein gene DOID:409 liver disease ISO RGD:736278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16965562 2065 Afp alpha-fetoprotein gene DOID:4450 renal cell carcinoma ISO RGD:736278 D RGD:2292042|PMID:1714107 20080409 RGD 2065 Afp alpha-fetoprotein gene DOID:5426 primary ovarian insufficiency ISO RGD:736278 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 2065 Afp alpha-fetoprotein gene DOID:630 genetic disease ISO RGD:736278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2065 Afp alpha-fetoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:736278 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:9029167|PMID:15276417|PMID:24012840|PMID:28284560|PMID:32961231 2065 Afp alpha-fetoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:736278 D RGD:125097525|PMID:22392353 20210524 RGD protein:increased expression:serum (human) 2065 Afp alpha-fetoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736278 D RGD:126790579|PMID:28611981 20210427 RGD 2065 Afp alpha-fetoprotein gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736278 D RGD:126790583|PMID:25968302 20210427 RGD associated with hepatitis B 2065 Afp alpha-fetoprotein gene DOID:684 hepatocellular carcinoma severity ISO RGD:736278 D RGD:14401581|PMID:22147961 20190513 RGD protein:increased expression:serum (human) 2065 Afp alpha-fetoprotein gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 2065 Afp alpha-fetoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:736278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 2065 Afp alpha-fetoprotein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736278 D RGD:2292037|PMID:18203521 20080409 RGD 2065 Afp alpha-fetoprotein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2065 Afp alpha-fetoprotein gene DOID:9001493 Alpha-Fetoprotein Deficiency ISO RGD:736278 D RGD:7240710 20141015 OMIM 2065 Afp alpha-fetoprotein gene DOID:9001493 Alpha-Fetoprotein Deficiency ISO RGD:736278 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Alpha-fetoprotein deficiency PMID:18854864 2065 Afp alpha-fetoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2065 Afp alpha-fetoprotein gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 2065 Afp alpha-fetoprotein gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736278 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:24012840|PMID:32961231 2065 Afp alpha-fetoprotein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736278 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16322315 2065 Afp alpha-fetoprotein gene DOID:9007456 Female Infertility ISO RGD:10116 D RGD:1300268|PMID:12297623 20110627 RGD 2065 Afp alpha-fetoprotein gene DOID:9007967 Alpha-Fetoprotein, Hereditary Persistence of ISO RGD:736278 D RGD:7240710 20221221 OMIM 2065 Afp alpha-fetoprotein gene DOID:9007967 Alpha-Fetoprotein, Hereditary Persistence of ISO RGD:736278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-fetoprotein, hereditary persistence of PMID:14699509|PMID:7684942 2065 Afp alpha-fetoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736278 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18497072 2067 Agrn agrin gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2067 Agrn agrin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 2067 Agrn agrin gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606873 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2067 Agrn agrin gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606873 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2067 Agrn agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:7240710 20180808 OMIM 2067 Agrn agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19631309|PMID:22205389|PMID:24951643|PMID:25741868|PMID:25741872|PMID:26467025|PMID:28221305|PMID:28492532|PMID:29258548|PMID:30994901|PMID:31167812|PMID:32221959|PMID:33059315|PMID:33756069|PMID:9536098 2067 Agrn agrin gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2067 Agrn agrin gene DOID:0111934 immunodeficiency 38 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2067 Agrn agrin gene DOID:0111935 immunodeficiency 16 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2067 Agrn agrin gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606873 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2067 Agrn agrin gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:19631309|PMID:22205389|PMID:24951643|PMID:28221305|PMID:28492532|PMID:30994901|PMID:33756069 2067 Agrn agrin gene DOID:630 genetic disease ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 2067 Agrn agrin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2067 Agrn agrin gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606873 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2067 Agrn agrin gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2067 Agrn agrin gene DOID:9119 acute myeloid leukemia ISO RGD:1606873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2068 Agrp agouti related neuropeptide gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2068 Agrp agouti related neuropeptide gene DOID:630 genetic disease ISO RGD:736333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2068 Agrp agouti related neuropeptide gene DOID:9002916 Hyperphagia IEP D RGD:2314004|PMID:11179781 20091030 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:hypothalamus 2068 Agrp agouti related neuropeptide gene DOID:9005768 Thinness ISO RGD:736333 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Leanness, inherited PMID:11602360|PMID:12213871|PMID:15054840 2068 Agrp agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311538|PMID:18001323 20091030 RGD mRNA:decreased expression:hypothalamus 2068 Agrp agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:736333 D RGD:2314000|PMID:11554767 20091030 RGD DNA:polymorphism:promoter:-38C>T (human) 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity IEP D RGD:2311538|PMID:18001323 20091030 RGD mRNA:increased expression:hypothalamus 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:1300272|PMID:11344185 19990101 RGD 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:1331525|PMID:15118671 20140211 GAD 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:1625232|PMID:12213871 20070530 RGD DNA:polymorphism:exon:c.199G>A, pAla67Thr (human) 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:2314000|PMID:11554767 20091030 RGD DNA:polymorphism:promoter:-38C>T (human) 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:7240710 20130221 OMIM 2068 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset PMID:11602360|PMID:12213871|PMID:15054840|PMID:25741868 2069 Agt angiotensinogen gene DOID:0050589 inflammatory bowel disease ISO RGD:731070 D RGD:11039049|PMID:20717043 20160301 RGD DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:0050700 cardiomyopathy ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 2069 Agt angiotensinogen gene DOID:0060224 atrial fibrillation ISO RGD:731070 D RGD:8548862|PMID:18239384 20140324 RGD DNA:polymorphisms, haplotypes:promoter:multiple 2069 Agt angiotensinogen gene DOID:0060903 thrombosis ISO RGD:731070 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11881036|PMID:21501650 2069 Agt angiotensinogen gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 2069 Agt angiotensinogen gene DOID:0080322 polycystic kidney disease IDA D RGD:12879406|PMID:20798958 20170927 RGD 2069 Agt angiotensinogen gene DOID:0080600 COVID-19 ISO RGD:731070 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32048163 2069 Agt angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8513325 2069 Agt angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:1300394|PMID:8513325 19990101 RGD DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:13432363|PMID:20530295 20170927 RGD 2069 Agt angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Preeclampsia, susceptibility to PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 2069 Agt angiotensinogen gene DOID:10603 glucose intolerance ISO RGD:731070 D RGD:11554173 20180410 CTD CTD Direct Evidence: therapeutic PMID:26704350 2069 Agt angiotensinogen gene DOID:10652 Alzheimer's disease ISO RGD:731070 D RGD:5129180|PMID:21297254 20110325 RGD protein:increased expression:cerebrospinal fluid 2069 Agt angiotensinogen gene DOID:1073 renal hypertension ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 2069 Agt angiotensinogen gene DOID:1074 kidney failure ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 2069 Agt angiotensinogen gene DOID:10763 hypertension IDA D RGD:11039415|PMID:24342267 20160302 RGD 2069 Agt angiotensinogen gene DOID:10763 hypertension IDA D RGD:8549470|PMID:21865264 20140326 RGD 2069 Agt angiotensinogen gene DOID:10763 hypertension IEP D RGD:1358275|PMID:12468106 20050629 RGD 2069 Agt angiotensinogen gene DOID:10763 hypertension IEP D RGD:5129176|PMID:21346625 20110325 RGD protein:increased expression:plasma, urine 2069 Agt angiotensinogen gene DOID:10763 hypertension IMP D RGD:8549458|PMID:9622148 20140326 RGD 2069 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:10118 D RGD:8548902|PMID:19779471 20140325 RGD 2069 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:43064|PMID:1394429|PMID:1432030|PMID:1849535|PMID:1860718|PMID:1875449|PMID:2831029|PMID:2835134|PMID:3158602|PMID:6742791|PMID:7323490|PMID:8021468|PMID:8109997|PMID:8505092|PMID:9024144|PMID:9260993|PMID:10400907|PMID:10526905|PMID:11459117|PMID:11501062|PMID:12084390|PMID:12121858|PMID:12414515|PMID:12600921|PMID:12676074|PMID:14751847|PMID:15243307|PMID:15302986|PMID:15699457|PMID:15833808|PMID:15851630|PMID:16618834|PMID:16788141|PMID:16868307|PMID:17272743|PMID:17537837|PMID:17989111|PMID:18420994|PMID:18679781|PMID:18768397|PMID:18785976|PMID:18847324|PMID:19109942|PMID:19133994|PMID:19373235|PMID:19770776|PMID:19858406|PMID:19934029|PMID:20231528|PMID:20429690|PMID:20713914|PMID:20811386|PMID:20837116|PMID:20937366|PMID:21289285|PMID:21393355|PMID:21420289|PMID:21501650|PMID:22083158|PMID:22214961|PMID:22452651|PMID:22753205|PMID:22982863|PMID:24342267|PMID:24347665|PMID:24386282|PMID:24935938|PMID:24965170|PMID:25139994|PMID:25259750|PMID:25398788|PMID:25874449|PMID:26564064|PMID:26648693|PMID:26781276|PMID:27225954|PMID:27678262|PMID:27798352|PMID:27889505|PMID:29706566|PMID:30354818|PMID:30634441|PMID:31016362|PMID:31098697|PMID:31786979 2069 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:1300393|PMID:1394429 19990101 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) 2069 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:1331525|PMID:15118671 20140211 GAD 2069 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:5129166|PMID:21312059 20110325 RGD DNA:polymorphism: :p.M268T (human) 2069 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertension PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 2069 Agt angiotensinogen gene DOID:10763 hypertension no_association ISO RGD:731070 D RGD:1601143|PMID:16514903 20070409 RGD DNA:polymorphisms: :-6G>A, p.M235T, p.T174M 2069 Agt angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:1601130|PMID:17334527 20070406 RGD DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:1601139|PMID:17161775 20070409 RGD DNA:polymorphism:promoter:-20C>A (human) 2069 Agt angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:1601141|PMID:16739866 20070409 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) 2069 Agt angiotensinogen gene DOID:10763 hypertension treatment IMP D RGD:8549469|PMID:19932924 20140326 RGD 2069 Agt angiotensinogen gene DOID:10808 gastric ulcer treatment IDA D RGD:11039418|PMID:24231511 20160302 RGD 2069 Agt angiotensinogen gene DOID:10824 malignant hypertension ISO RGD:731070 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:2493837|PMID:27428043 2069 Agt angiotensinogen gene DOID:10825 essential hypertension ISO RGD:731070 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2069 Agt angiotensinogen gene DOID:10825 essential hypertension ISO RGD:731070 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:17047091|PMID:20978123|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:35005812|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9421481|PMID:9831339|PMID:9894356 2069 Agt angiotensinogen gene DOID:10907 microcephaly ISO RGD:731070 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2069 Agt angiotensinogen gene DOID:11049 meconium aspiration syndrome IEP D RGD:11039054|PMID:14605247 20160301 RGD mRNA:increased expression:lung 2069 Agt angiotensinogen gene DOID:11111 hydronephrosis ISO RGD:10118 D RGD:1300273|PMID:12399452 20140325 RGD 2069 Agt angiotensinogen gene DOID:11111 hydronephrosis treatment ISO RGD:731070 D RGD:1300273|PMID:12399452 19990101 RGD 2069 Agt angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731070 D RGD:11039045|PMID:16521052 20160301 RGD DNA:missense mutation:cds:p.M235T (human) 2069 Agt angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura severity ISO RGD:731070 D RGD:11039055|PMID:20702504 20160301 RGD DNA:missense mutation:cds:p.T174M (human) 2069 Agt angiotensinogen gene DOID:11382 corneal neovascularization ISO RGD:10118 D RGD:8548897|PMID:18829859 20140325 RGD mRNA, protein:increased expression:cornea 2069 Agt angiotensinogen gene DOID:11396 pulmonary edema ISO RGD:731070 D RGD:5129160|PMID:21393362 20110325 RGD DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:114 heart disease ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19373235 2069 Agt angiotensinogen gene DOID:11446 sciatic neuropathy IDA D RGD:5129198|PMID:20886512 20110328 RGD 2069 Agt angiotensinogen gene DOID:11563 retinal vasculitis ISO RGD:10118 D RGD:11039401|PMID:19834028 20160302 RGD 2069 Agt angiotensinogen gene DOID:11716 prediabetes syndrome IEP D RGD:8549461|PMID:23322513 20140326 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:kidney 2069 Agt angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:731070 D RGD:1566491|PMID:9270088 19990101 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) 2069 Agt angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:731070 D RGD:13432163|PMID:9023164 20170922 RGD DNA:polymorphism:cds:p.M235T(human) 2069 Agt angiotensinogen gene DOID:1205 allergic disease susceptibility ISO RGD:731070 D RGD:8142344|PMID:10200023 20140325 RGD DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:12185 otosclerosis ISO RGD:731070 D RGD:8548860|PMID:18491423 20140324 RGD DNA:missense mutation:cds:p.M235T (human) 2069 Agt angiotensinogen gene DOID:12185 otosclerosis no_association ISO RGD:731070 D RGD:8548871|PMID:19503013 20140324 RGD DNA:missense mutation:cds:p.M235T (rs699) (human) 2069 Agt angiotensinogen gene DOID:12215 oligohydramnios ISO RGD:731070 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: Anhydramnios PMID:25741868|PMID:35005812 2069 Agt angiotensinogen gene DOID:12236 primary biliary cholangitis IEP D RGD:9685452|PMID:17532087 20150109 RGD protein:increased expression:plasma 2069 Agt angiotensinogen gene DOID:12351 alcoholic hepatitis ISO RGD:731070 D RGD:1601135|PMID:17258719 20070409 RGD mRNA:decreased expression:liver 2069 Agt angiotensinogen gene DOID:1287 cardiovascular system disease ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 2069 Agt angiotensinogen gene DOID:1287 cardiovascular system disease ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:1287 cardiovascular system disease no_association ISO RGD:731070 D RGD:1566492|PMID:8523390 19990101 RGD 2069 Agt angiotensinogen gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:731070 D RGD:1566491|PMID:9270088 20140324 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) 2069 Agt angiotensinogen gene DOID:12930 dilated cardiomyopathy treatment IEP D RGD:8549486|PMID:22120037 20140326 RGD 2069 Agt angiotensinogen gene DOID:12932 endomyocardial fibrosis ISO RGD:731070 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20837116|PMID:25139994|PMID:25488910|PMID:27099261|PMID:30703374 2069 Agt angiotensinogen gene DOID:12935 alcoholic cardiomyopathy ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22497828 2069 Agt angiotensinogen gene DOID:13025 retinopathy of prematurity ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 2069 Agt angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:5129175|PMID:21357516 20110325 RGD 2069 Agt angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19858406 2069 Agt angiotensinogen gene DOID:13580 cholestasis ISO RGD:731070 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 2069 Agt angiotensinogen gene DOID:13884 sick sinus syndrome ISO RGD:731070 D RGD:8548870|PMID:22242192 20140324 RGD DNA:SNP:promoter:-6G>A (human) 2069 Agt angiotensinogen gene DOID:13994 cleidocranial dysplasia ISO RGD:731070 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Large fontanelles PMID:25741868|PMID:35005812 2069 Agt angiotensinogen gene DOID:14499 Fabry disease severity ISO RGD:731070 D RGD:13432161|PMID:24020479 20170926 RGD DNA:polymorphism:promoter: 2069 Agt angiotensinogen gene DOID:1540 parathyroid carcinoma ISO RGD:731070 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2069 Agt angiotensinogen gene DOID:1561 cognitive disorder ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 2069 Agt angiotensinogen gene DOID:1580 diffuse scleroderma ISO RGD:731070 D RGD:8548886|PMID:14730619 20140325 RGD protein:increased expression:serum 2069 Agt angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:8548866|PMID:23828384 20140324 RGD DNA:polymorphisms, haplotypes: :p.T174M, p.M235T (human) 2069 Agt angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:8548901|PMID:23374911 20140325 RGD protein:increased expression:serum 2069 Agt angiotensinogen gene DOID:1612 breast cancer susceptibility ISO RGD:731070 D RGD:8548861|PMID:16823505 20140324 RGD DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:178 vascular disease ISO RGD:731070 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:29706566 2069 Agt angiotensinogen gene DOID:1875 impotence treatment IDA D RGD:8548892|PMID:17616753 20140325 RGD 2069 Agt angiotensinogen gene DOID:1936 atherosclerosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21925196|PMID:22539767 2069 Agt angiotensinogen gene DOID:1936 atherosclerosis treatment IMP D RGD:8549467|PMID:22977667 20140326 RGD associated with Hypertension 2069 Agt angiotensinogen gene DOID:2018 hyperinsulinism ISO RGD:731070 D RGD:1601142|PMID:16713443 20070409 RGD associated with obesity;DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:224 transient cerebral ischemia IEP D RGD:8549480|PMID:21934531 20140326 RGD 2069 Agt angiotensinogen gene DOID:2355 anemia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 2069 Agt angiotensinogen gene DOID:2377 multiple sclerosis ISO RGD:731070 D RGD:13432361|PMID:17715340 20170927 RGD protein:decreased expression:brain,astrocyte: 2069 Agt angiotensinogen gene DOID:2527 nephrosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2046802 2069 Agt angiotensinogen gene DOID:2921 glomerulonephritis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11459117 2069 Agt angiotensinogen gene DOID:2921 glomerulonephritis disease_progression IEP D RGD:13432360|PMID:15888567 20170927 RGD 2069 Agt angiotensinogen gene DOID:2983 anuria ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8527259 2069 Agt angiotensinogen gene DOID:2986 IgA glomerulonephritis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 2069 Agt angiotensinogen gene DOID:2986 IgA glomerulonephritis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 2069 Agt angiotensinogen gene DOID:3312 bipolar disorder ISO RGD:731070 D RGD:1331525|PMID:15118671 20140211 GAD 2069 Agt angiotensinogen gene DOID:3328 temporal lobe epilepsy IEP D RGD:8549466|PMID:22542773 20140326 RGD 2069 Agt angiotensinogen gene DOID:3393 coronary artery disease ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:3407 carotid artery disease ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12911327 2069 Agt angiotensinogen gene DOID:3407 carotid artery disease susceptibility ISO RGD:731070 D RGD:1601136|PMID:17220293 20070409 RGD DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:3525 middle cerebral artery infarction IEP D RGD:9685436|PMID:24090950 20150108 RGD protein:increased expression:brain, serum 2069 Agt angiotensinogen gene DOID:3627 aortic aneurysm ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21925196 2069 Agt angiotensinogen gene DOID:3770 pulmonary fibrosis ISO RGD:731070 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:28960804|PMID:31181250 2069 Agt angiotensinogen gene DOID:3770 pulmonary fibrosis treatment IMP D RGD:11039408|PMID:24168260 20160302 RGD 2069 Agt angiotensinogen gene DOID:418 systemic scleroderma ISO RGD:731070 D RGD:8548889|PMID:17360781 20140325 RGD protein:decreased expression:plasma 2069 Agt angiotensinogen gene DOID:4500 hypokalemia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7182184 2069 Agt angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:11039051|PMID:7550093 20160301 RGD mRNA, protein:increased expression:liver, plasma 2069 Agt angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:5129185|PMID:21282555 20110328 RGD protein:increased expression:kidney, urine 2069 Agt angiotensinogen gene DOID:5082 liver cirrhosis IEP D RGD:8549465|PMID:21873937 20140326 RGD 2069 Agt angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 2069 Agt angiotensinogen gene DOID:5199 ureteral obstruction ISO RGD:731070 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 2069 Agt angiotensinogen gene DOID:552 pneumonia ISO RGD:731070 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:28960804 2069 Agt angiotensinogen gene DOID:557 kidney disease ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:15213268|PMID:17989111|PMID:21896938|PMID:31098697 2069 Agt angiotensinogen gene DOID:576 proteinuria ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:464098|PMID:2046802|PMID:9259580|PMID:12937228|PMID:17890855|PMID:25398788 2069 Agt angiotensinogen gene DOID:5844 myocardial infarction IDA D RGD:5129191|PMID:21167013 20110328 RGD 2069 Agt angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1668233|PMID:16413583 2069 Agt angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:1566452|PMID:11393670 19990101 RGD associated with Coronary Artery Disease;DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:5844 myocardial infarction susceptibility ISO RGD:731070 D RGD:1601132|PMID:17299437 20070409 RGD associated with hypertension;DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:6000 congestive heart failure ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1330361|PMID:12025466|PMID:20811386 2069 Agt angiotensinogen gene DOID:6000 congestive heart failure onset ISO RGD:731070 D RGD:1601140|PMID:17145981 20070409 RGD DNA:polymorphisms: :p.M235T, p.T174M (human) 2069 Agt angiotensinogen gene DOID:6000 congestive heart failure severity ISO RGD:731070 D RGD:11039412|PMID:24465706 20160302 RGD protein:increased expression:serum 2069 Agt angiotensinogen gene DOID:6000 congestive heart failure treatment IEP D RGD:8549482|PMID:21963897 20140326 RGD 2069 Agt angiotensinogen gene DOID:630 genetic disease ISO RGD:731070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2069 Agt angiotensinogen gene DOID:6432 pulmonary hypertension IDA D RGD:5129162|PMID:21381494 20110325 RGD 2069 Agt angiotensinogen gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:731070 D RGD:1601136|PMID:17220293 20070409 RGD DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:7693 abdominal aortic aneurysm ISO RGD:731070 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:16514081|PMID:20937366|PMID:22539767|PMID:25301841|PMID:30354818 2069 Agt angiotensinogen gene DOID:783 end stage renal disease ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:8552 chronic myeloid leukemia ISO RGD:731070 D RGD:11039056|PMID:19761684 20160301 RGD 2069 Agt angiotensinogen gene DOID:8778 Crohn's disease ISO RGD:731070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Crohn disease, association with PMID:12743009|PMID:13937884|PMID:15077204|PMID:17047091|PMID:20978123|PMID:9120024|PMID:9894356 2069 Agt angiotensinogen gene DOID:8805 intermediate coronary syndrome ISO RGD:731070 D RGD:8548894|PMID:11451295 20140325 RGD mRNA:increased expression:myocardium 2069 Agt angiotensinogen gene DOID:8923 skin melanoma ISO RGD:731070 D RGD:8548874|PMID:19394758 20140324 RGD protein:increased expression:serum 2069 Agt angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 2069 Agt angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:8548872|PMID:10862638 20140324 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:8947 diabetic retinopathy treatment IMP D RGD:8548900|PMID:21792177 20140325 RGD associated with Diabetes Mellitus, Experimental 2069 Agt angiotensinogen gene DOID:9000040 Hypertrophy ISO RGD:731070 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:12054679|PMID:12237323|PMID:18785976|PMID:21071431|PMID:24039778|PMID:26955731 2069 Agt angiotensinogen gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1654493|PMID:2535056 2069 Agt angiotensinogen gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11039031|PMID:24036592 20160302 RGD mRNA, protein:increased expression:type I cell of carotid body 2069 Agt angiotensinogen gene DOID:9000784 Fibrosis IDA D RGD:5129174|PMID:21367774 20110325 RGD 2069 Agt angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:731070 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18785976|PMID:19373235|PMID:25398788|PMID:25807386|PMID:26648693|PMID:30634441|PMID:33676887 2069 Agt angiotensinogen gene DOID:9000815 Aortic Calcification IDA D RGD:8549476|PMID:23291307 20140326 RGD 2069 Agt angiotensinogen gene DOID:9001189 Drug Overdose ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8527259 2069 Agt angiotensinogen gene DOID:9001542 Albuminuria ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781|PMID:21896938 2069 Agt angiotensinogen gene DOID:9001542 Albuminuria ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12667390 2069 Agt angiotensinogen gene DOID:9001650 Pregnancy-Induced Hypertension IEP D RGD:8548898|PMID:17977916 20140325 RGD 2069 Agt angiotensinogen gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24688123|PMID:29353218|PMID:30703374 2069 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17890855|PMID:20383342 2069 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:8548868|PMID:8772723 20140324 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:8548872|PMID:10862638 20140324 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731070 D RGD:11039058|PMID:19014923 20160301 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:731070 D RGD:8548885|PMID:11938025 20140325 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) 2069 Agt angiotensinogen gene DOID:9002211 Hyperalgesia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 2069 Agt angiotensinogen gene DOID:9002231 Fetal Growth Retardation IEP D RGD:11538508|PMID:26270574 20170922 RGD mRNA,protein:increased expression:kidney,urine: 2069 Agt angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 2069 Agt angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:13432363|PMID:20530295 20170927 RGD 2069 Agt angiotensinogen gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:731070 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 2069 Agt angiotensinogen gene DOID:9002371 Cardiotoxicity ISO RGD:731070 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33676887 2069 Agt angiotensinogen gene DOID:9002514 Neointima ISO RGD:731070 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:19258495|PMID:29609002 2069 Agt angiotensinogen gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25807386 2069 Agt angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:155663361|PMID:24219762 20221111 RGD protein:increased expression:intestine: 2069 Agt angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:155663363|PMID:21955427 20221111 RGD protein:increased expression:serum: 2069 Agt angiotensinogen gene DOID:9003234 Hypertensive Nephropathy treatment IEP D RGD:8548895|PMID:22089474 20140325 RGD 2069 Agt angiotensinogen gene DOID:9003805 Catalepsy ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1034924 2069 Agt angiotensinogen gene DOID:9003936 Cardiomegaly IDA D RGD:11039415|PMID:24342267 20160302 RGD 2069 Agt angiotensinogen gene DOID:9003936 Cardiomegaly IDA D RGD:5129174|PMID:21367774 20110325 RGD 2069 Agt angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:10118 D RGD:8548902|PMID:19779471 20140325 RGD 2069 Agt angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:731070 D RGD:11554173 20221206 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11403367|PMID:15226216|PMID:15851630|PMID:15870116|PMID:17124262|PMID:18400235|PMID:19794523|PMID:20190099|PMID:20409916|PMID:20429690|PMID:20616315|PMID:20811386|PMID:22291909|PMID:22335191|PMID:24342267|PMID:25139994|PMID:25488910|PMID:27099261|PMID:29353218|PMID:30634441|PMID:30703374|PMID:31016362|PMID:35510648 2069 Agt angiotensinogen gene DOID:9003936 Cardiomegaly treatment ISO RGD:10118 D RGD:155663352|PMID:23188126 20221111 RGD 2069 Agt angiotensinogen gene DOID:9004009 Reperfusion Injury ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 2069 Agt angiotensinogen gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20824505 2069 Agt angiotensinogen gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10805403|PMID:14644620|PMID:14751847|PMID:18679781|PMID:20837116|PMID:24688123|PMID:31016362 2069 Agt angiotensinogen gene DOID:9004771 Vascular Remodeling ISO RGD:731070 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:25259750|PMID:27678262 2069 Agt angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:5129167|PMID:20837666 20110325 RGD 2069 Agt angiotensinogen gene DOID:9005372 Inflammation ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:15944212|PMID:16868307|PMID:27436852|PMID:29353218 2069 Agt angiotensinogen gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15831366|PMID:17177138|PMID:18829990 2069 Agt angiotensinogen gene DOID:9005749 Necrosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1535655|PMID:12606818 2069 Agt angiotensinogen gene DOID:9006024 Hypotension ISO RGD:10118 D RGD:737778|PMID:9466969 20150127 RGD 2069 Agt angiotensinogen gene DOID:9006024 Hypotension ISO RGD:731070 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:3078272|PMID:8527259|PMID:9323291|PMID:30634441 2069 Agt angiotensinogen gene DOID:9006045 Dissecting Aneurysm ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 2069 Agt angiotensinogen gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:731070 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism PMID:16116425|PMID:17036344 2069 Agt angiotensinogen gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:731070 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2069 Agt angiotensinogen gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:11770813|PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:16116425|PMID:17036344|PMID:17047091|PMID:20978123|PMID:22095942|PMID:23497386|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:7607642|PMID:7649545|PMID:7744780|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9403548|PMID:9421481|PMID:9831339|PMID:9894356 2069 Agt angiotensinogen gene DOID:9006646 Metabolic Syndrome IEP D RGD:1601134|PMID:17260464 20070409 RGD mRNA, protein:increased expression:adipose tissue 2069 Agt angiotensinogen gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:11039400|PMID:8446257 20160302 RGD 2069 Agt angiotensinogen gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 2069 Agt angiotensinogen gene DOID:9007001 Bradycardia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9519251 2069 Agt angiotensinogen gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 2069 Agt angiotensinogen gene DOID:9007096 Stroke ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:11039048|PMID:11754397 20160301 RGD associated with sickle cell anemia;DNA:repeat:exon: 2069 Agt angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:1601132|PMID:17299437 20070409 RGD associated with hypertension;DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:9007102 Myocardial Ischemia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16775501 2069 Agt angiotensinogen gene DOID:9007174 Ventricular Remodeling ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 2069 Agt angiotensinogen gene DOID:9007278 Anaphylaxis ISO RGD:731070 D RGD:8548893|PMID:1422942 20140325 RGD 2069 Agt angiotensinogen gene DOID:9007331 Alkalosis ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7182184 2069 Agt angiotensinogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731070 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29499335 2069 Agt angiotensinogen gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:13515113|PMID:15001561 20180404 RGD protein:increased expression:plasma 2069 Agt angiotensinogen gene DOID:9007820 Sudden Death ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 2069 Agt angiotensinogen gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2535056|PMID:19166939 2069 Agt angiotensinogen gene DOID:9007908 Aortic Coarctation treatment ISO RGD:731070 D RGD:13432358|PMID:21450583 20170927 RGD DNA:polymorphism: :c.704T>C (human) 2069 Agt angiotensinogen gene DOID:9008217 Hemorrhage ISO RGD:731070 D RGD:11039046|PMID:19733287 20160301 RGD associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human) 2069 Agt angiotensinogen gene DOID:9009039 Hyperemia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15815331 2069 Agt angiotensinogen gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16292651 2069 Agt angiotensinogen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731070 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2069 Agt angiotensinogen gene DOID:9279 hyperhomocysteinemia ISO RGD:731070 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:24386282 2069 Agt angiotensinogen gene DOID:9352 type 2 diabetes mellitus ISO RGD:731070 D RGD:1601138|PMID:17170378 20070409 RGD mRNA, protein:increased expression:smooth muscle cell, carotid artery 2069 Agt angiotensinogen gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731070 D RGD:8548863|PMID:9258285 20140324 RGD DNA:polymorphism: :p.T174M, p.M235T (human) 2069 Agt angiotensinogen gene DOID:988 mitral valve prolapse ISO RGD:731070 D RGD:1331525|PMID:15118671 19990101 GAD 2069 Agt angiotensinogen gene DOID:988 mitral valve prolapse severity ISO RGD:731070 D RGD:13432357|PMID:17379330 20170927 RGD associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) 2069 Agt angiotensinogen gene DOID:9970 obesity ISO RGD:731070 D RGD:1601142|PMID:16713443 20070409 RGD DNA:polymorphism: :p.M235T 2069 Agt angiotensinogen gene DOID:9970 obesity susceptibility ISO RGD:731070 D RGD:1601143|PMID:16514903 20070409 RGD DNA:polymorphism: :p.T174M 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0050579 glycogen storage disease XV ISO RGD:68977 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0050851 glomerulosclerosis IEP D RGD:6903859|PMID:12495295 20121004 RGD mRNA:decreased expression:kidney 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0050852 limb ischemia ISO RGD:737190 D RGD:737810|PMID:11877468 20180126 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0050938 breast lobular carcinoma ISO RGD:737190 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0060224 atrial fibrillation ISO RGD:68977 D RGD:5147453|PMID:20080265 20110804 RGD associated with Mitral Valve Insufficiency 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0080600 COVID-19 ISO RGD:68977 D RGD:30296671|PMID:32228222 20200618 RGD associated with hypertension 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:68977 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10603 glucose intolerance ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:11564974 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10652 Alzheimer's disease ISO RGD:68977 D RGD:10047397|PMID:8666063 20150713 RGD protein:decreased expression:substantia nigra: 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10652 Alzheimer's disease treatment ISO RGD:68977 D RGD:10047395|PMID:21929736 20150713 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:1073 renal hypertension IEP D RGD:10047107|PMID:7591011 20150709 RGD mRNA:decreased expression:kidney: 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension IEP D RGD:5147456|PMID:8181542 20110804 RGD mRNA:increased expression:aortic endothelial cell 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension IMP D RGD:5129169|PMID:21040717 20110325 RGD associated with Sleep Apnea Syndromes 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension IMP D RGD:5129176|PMID:21346625 20110325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension IMP D RGD:8549458|PMID:9622148 20140326 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8952600|PMID:19047579|PMID:23603059|PMID:27292124 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension ISO RGD:68977 D RGD:1331525|PMID:15118671 20140211 GAD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension no_association ISO RGD:68977 D RGD:1601152|PMID:9456365 20070409 RGD DNA:polymorphism:3' utr:1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10763 hypertension susceptibility ISO RGD:68977 D RGD:1601148|PMID:16519598 20070409 RGD DNA:polymorphism:3' utr:g.1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:7240710 20130221 OMIM 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:15042429|PMID:25741868|PMID:28492532|PMID:28973083|PMID:8021009|PMID:9084931 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10825 essential hypertension treatment ISO RGD:68977 D RGD:10047396|PMID:18604484 20150713 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:10952 nephritis IMP D RGD:6903864|PMID:12077487 20121004 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:11335 sarcoidosis ISO RGD:68977 D RGD:5129165|PMID:20560294 20110325 RGD DNA:polymorphism: :1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:11335 sarcoidosis no_association ISO RGD:68977 D RGD:5129164|PMID:21319597 20110325 RGD DNA:polymorphism: :1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:11382 corneal neovascularization ISO RGD:737190 D RGD:8548897|PMID:18829859 20140325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:12858 Huntington's disease ISO RGD:68977 D RGD:10047397|PMID:8666063 20150713 RGD protein:decreased expression:putamen: 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:12930 dilated cardiomyopathy IMP D RGD:5129198|PMID:20886512 20110328 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:12930 dilated cardiomyopathy treatment IEP D RGD:8549486|PMID:22120037 20140326 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:5129175|PMID:21357516 20110325 RGD protein:increased expression:kidney cortex 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:13832 patent ductus arteriosus ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12904590|PMID:19336370 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:14330 Parkinson's disease ISO RGD:68977 D RGD:10047397|PMID:8666063 20150713 RGD protein:decreased expression:caudate nucleus,putamen,substantia nigra: 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:1591 renovascular hypertension IEP D RGD:10047119|PMID:9644212 20150710 RGD mRNA:decreased expression:kidney: 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:1591 renovascular hypertension IMP D RGD:5129177|PMID:21326341 20110325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:1591 renovascular hypertension IMP D RGD:5147455|PMID:16796846 20110804 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:1612 breast cancer ISO RGD:68977 D RGD:8548866|PMID:23828384 20140324 RGD DNA:polymorphism, haplotype: :1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:2018 hyperinsulinism IEP D RGD:1642975|PMID:16565309 20100419 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:2841 asthma IMP D RGD:5147457|PMID:19080339 20110804 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:2841 asthma ISO RGD:737190 D RGD:5147452|PMID:17877756 20110804 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:2986 IgA glomerulonephritis ISO RGD:68977 D RGD:6903851|PMID:15930094 20121003 RGD protein:increased expression:kidney tubule 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:3393 coronary artery disease ISO RGD:68977 D RGD:1331525|PMID:15118671 20140211 GAD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:3393 coronary artery disease susceptibility ISO RGD:68977 D RGD:1566498|PMID:12975417 20070409 RGD DNA:polymorphism:3' utr:1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:3407 carotid artery disease susceptibility ISO RGD:68977 D RGD:1601148|PMID:16519598 20070409 RGD associated with hypertension;DNA:polymorphism:3' utr:g.1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:3770 pulmonary fibrosis ISO RGD:737190 D RGD:5147454|PMID:18500976 20110804 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:3891 placental insufficiency IEP D RGD:5147460|PMID:20621762 20110805 RGD mRNA, protein:increased expression:placenta 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:4450 renal cell carcinoma severity ISO RGD:68977 D RGD:6903280|PMID:21102591 20120928 RGD protein:increased expression:kidney 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:5129185|PMID:21282555 20110328 RGD protein:increased expression:kidney 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:557 kidney disease ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:557 kidney disease ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:9596920 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:576 proteinuria IMP D RGD:6903284|PMID:20042458 20120928 RGD associated with Kidney Failure, Chronic 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:576 proteinuria ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17021606 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:5844 myocardial infarction IEP D RGD:10047101|PMID:9652322 20150709 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:5844 myocardial infarction ISO RGD:68977 D RGD:1331525|PMID:15118671 20140211 GAD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:5844 myocardial infarction no_association ISO RGD:68977 D RGD:1566499|PMID:9857918 19990101 RGD DNA:polymorphism:3' utr:1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:5844 myocardial infarction susceptibility ISO RGD:68977 D RGD:1601150|PMID:16061119 20070409 RGD DNA:polymorphism:3' utr:1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:6000 congestive heart failure ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17208988|PMID:18214293|PMID:18586661 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:6000 congestive heart failure treatment IMP D RGD:8549482|PMID:21963897 20140326 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:630 genetic disease ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:6432 pulmonary hypertension onset ISO RGD:68977 D RGD:5147450|PMID:19332265 20110804 RGD DNA:polymorphism:3' utr:1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:68977 D RGD:1601149|PMID:16109907 20070409 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:7693 abdominal aortic aneurysm ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22539767 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:7693 abdominal aortic aneurysm ISO RGD:737190 D RGD:5147451|PMID:18451329 20110804 RGD mRNA:increased expression:abdominal aorta 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:784 chronic kidney disease IMP D RGD:6903863|PMID:12089373 20121004 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:784 chronic kidney disease disease_progression ISO RGD:68977 D RGD:8548869|PMID:12832734 20140324 RGD DNA:polymorphism:3' utr:1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:850 lung disease ISO RGD:737190 D RGD:5129168|PMID:20723410 20110325 RGD Acute Lung Injury;protein:increased expression:lung 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:8805 intermediate coronary syndrome ISO RGD:68977 D RGD:8548894|PMID:11451295 20140325 RGD mRNA:increased expression:myocardium 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:8947 diabetic retinopathy ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16601577 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68977 D RGD:8548864|PMID:16105049 20140324 RGD associated with Kidney Failure, Chronic;DNA:polymorphism: :1166A>C (human 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000352 Vascular System Injuries ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000528 Coronary Disease no_association ISO RGD:68977 D RGD:1566499|PMID:9857918 19990101 RGD DNA:polymorphism:3' utr:1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000528 Coronary Disease susceptibility ISO RGD:68977 D RGD:1601152|PMID:9456365 20070409 RGD DNA:polymorphism:3' utr:1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000784 Fibrosis IMP D RGD:5129174|PMID:21367774 20110325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000784 Fibrosis ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:9596920 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000855 Experimental Radiation Injuries IMP D RGD:6903857|PMID:14982483 20121004 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9000965 Neoplasm Metastasis ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:12890498|PMID:25380136 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:737190 D RGD:10403061|PMID:24619965 20151106 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9002165 Diabetic Nephropathies IMP D RGD:6903861|PMID:12172324 20121004 RGD associated with Diabetes Mellitus, Experimental 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9002165 Diabetic Nephropathies ISO RGD:68977 D RGD:8548891|PMID:12476891 20140325 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human) 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9002231 Fetal Growth Retardation IEP D RGD:5129179|PMID:21303825 20110325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9002234 Pituitary Neoplasms ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16977796 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9003234 Hypertensive Nephropathy treatment IMP D RGD:8548895|PMID:22089474 20140325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9003281 Spontaneous Abortions ISO RGD:68977 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9003936 Cardiomegaly IEP D RGD:10047105|PMID:11324571 20150709 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9003936 Cardiomegaly IMP D RGD:5129174|PMID:21367774 20110325 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9003936 Cardiomegaly ISO RGD:68977 D RGD:737777|PMID:10639182 20150127 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9003936 Cardiomegaly ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:17350036 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:68977 D RGD:1601151|PMID:15612584 20070409 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292665|PMID:18421211 20100419 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9005372 Inflammation ISO RGD:737190 D RGD:6903855|PMID:15153562 20140131 RGD associated with Ureteral Obstruction 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism PMID:16116425 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:7240710 20130221 OMIM 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:15042429|PMID:16116425|PMID:18641512|PMID:20948563|PMID:21179236|PMID:22095942|PMID:22569962|PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:35005812|PMID:8021009|PMID:9084931 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9006182 Carotid Artery Injuries treatment IEP D RGD:10047106|PMID:9918604 20150709 RGD mRNA:increased expression:artery: 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9006358 Postoperative Cognitive Dysfunction IEP D RGD:10047100|PMID:24814703 20150709 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:68977 D RGD:1601146|PMID:17211857 20070409 RGD DNA:snp:3' utr:c.5186A>C 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9007174 Ventricular Remodeling IEP D RGD:10047108|PMID:18252761 20150709 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5129194|PMID:21078800 20110328 RGD protein:increased expression:myocardium 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9008138 Ductal Carcinoma ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:737190 D RGD:1303381|PMID:2 20121004 RGD 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737190 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:16292651 2070 Agtr1a angiotensin II receptor, type 1a gene DOID:9620 vesicoureteral reflux ISO RGD:68977 D RGD:6903866|PMID:11819209 20121004 RGD 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:10763 hypertension IEP D RGD:1598885|PMID:10994756 20061220 RGD 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:10763 hypertension ISO RGD:10123 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:22728133|PMID:27847271 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:1591 renovascular hypertension treatment IEP D RGD:10047119|PMID:9644212 20150710 RGD mRNA:increased expression:kidney: 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:10123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22728133 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:9003936 Cardiomegaly IEP D RGD:10047105|PMID:11324571 20150709 RGD 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:9006358 Postoperative Cognitive Dysfunction IEP D RGD:10047100|PMID:24814703 20150709 RGD 2071 Agtr1b angiotensin II receptor, type 1b gene DOID:9009073 Diaphragmatic Hernia ISO RGD:10123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16292651 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:0050851 glomerulosclerosis IEP D RGD:6903859|PMID:12495295 20121004 RGD mRNA:increased expression:kidney 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:0050851 glomerulosclerosis IMP D RGD:6903284|PMID:20042458 20120928 RGD associated with Kidney Failure, Chronic 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:10126 D RGD:6903882|PMID:20631980 20121005 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:619558 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:619558 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:0112053 non-syndromic X-linked intellectual disability 88 ISO RGD:619558 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: MRX88 PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:1059 intellectual disability ISO RGD:619558 D RGD:1300276|PMID:12089445 19990101 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:10763 hypertension IEP D RGD:6903865|PMID:11924718 20121004 RGD mRNA, protein:decreased expression:kidney 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:10763 hypertension IMP D RGD:5129169|PMID:21040717 20110325 RGD associated with Sleep Apnea Syndromes 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:10763 hypertension IMP D RGD:6903372|PMID:19680135 20121002 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:10763 hypertension ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15710752 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:11049 meconium aspiration syndrome treatment IMP D RGD:11039054|PMID:14605247 20160301 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:12849 autistic disorder ISO RGD:619558 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:12930 dilated cardiomyopathy IEP D RGD:8549486|PMID:22120037 20140326 RGD protein:increased expression:heart 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619558 D RGD:6903900|PMID:9815151 20121005 RGD mRNA, protein:increased expression:heart left ventricle 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:5129175|PMID:21357516 20110325 RGD protein:increased expression:kidney cortex 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:1591 renovascular hypertension IDA D RGD:6903867|PMID:21189405 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:1591 renovascular hypertension IMP D RGD:6903868|PMID:18158356 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:1793 pancreatic cancer ISO RGD:619558 D RGD:2325641|PMID:11916627 20100603 RGD mRNA:increased expression:pancreas 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:2841 asthma IEP D RGD:5147457|PMID:19080339 20110804 RGD mRNA, protein:increased expression:lung 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:2921 glomerulonephritis IMP D RGD:6903845|PMID:19139720 20121003 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:619558 D RGD:6903851|PMID:15930094 20121003 RGD protein:increased expression:kidney tubule 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:619558 D RGD:6903844|PMID:19194560 20121003 RGD DNA:polymorphism: :1818A>T (human) 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10126 D RGD:5147454|PMID:18500976 20110804 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:3827 congenital diaphragmatic hernia IMP D RGD:6903875|PMID:22113494 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619558 D RGD:6903280|PMID:21102591 20120928 RGD protein:increased expression:kidney 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:5119 ovarian cyst ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:6000 congestive heart failure IEP D RGD:6903846|PMID:18768398 20121003 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:6000 congestive heart failure IEP D RGD:8549482|PMID:21963897 20140326 RGD mRNA, protein:decreased expression:heart 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:630 genetic disease ISO RGD:619558 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722|PMID:28492532 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:783 end stage renal disease ISO RGD:10126 D RGD:6903843|PMID:19212419 20121003 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:783 end stage renal disease ISO RGD:619558 D RGD:6903283|PMID:20149750 20120928 RGD associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human) 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:784 chronic kidney disease IMP D RGD:6903863|PMID:12089373 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9000352 Vascular System Injuries ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9000784 Fibrosis IMP D RGD:6903874|PMID:22184331 20121004 RGD associated with Hypertension 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9000784 Fibrosis ISO RGD:10126 D RGD:6903848|PMID:18327089 20121003 RGD associated with Ureteral Obstruction 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9000855 Experimental Radiation Injuries IMP D RGD:6903857|PMID:14982483 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:6903850|PMID:16133060 20121003 RGD DNA:transition:intron 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:6903853|PMID:15470205 20121004 RGD DNA:transition:intron:-1332A>G (human) 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:6903847|PMID:18565281 20121003 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:5129179|PMID:21303825 20110325 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9003676 Brain Hypoxia-Ischemia IMP D RGD:6903872|PMID:22569153 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9004009 Reperfusion Injury IDA D RGD:6903870|PMID:22920387 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20467270 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9005372 Inflammation ISO RGD:10126 D RGD:6903855|PMID:15153562 20121004 RGD associated with Ureteral Obstruction 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6903861|PMID:12172324 20121004 RGD mRNA, protein:decreased expression:kidney 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12089445 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9005930 Endotoxemia IEP D RGD:6903849|PMID:16725227 20121003 RGD protein:decreased expression:kidney 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15587404|PMID:16025228 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9007096 Stroke IMP D RGD:6903905|PMID:19246705 20121005 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9007692 Insulin Resistance IEP D RGD:6903873|PMID:22357959 20121004 RGD protein:increased expression:dorsal root ganglion, neuron 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:10126 D RGD:1303381|PMID:2 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10126 D RGD:6892717|PMID:21900645 20120928 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313550|PMID:18463192 20090930 RGD mRNA, protein:increased expression:aorta 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:6903853|PMID:15470205 20121004 RGD DNA:transition:intron:-1332A>G (human) 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:6903866|PMID:11819209 20121004 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9620 vesicoureteral reflux no_association ISO RGD:619558 D RGD:6903860|PMID:12187255 20121004 RGD DNA:transition:intron:-1332A>G (human) 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9970 obesity ISO RGD:10126 D RGD:2313554|PMID:15793237 20091001 RGD 2072 Agtr2 angiotensin II receptor, type 2 gene DOID:9993 hypoglycemia ISO RGD:619558 D RGD:2313551|PMID:18328310 20090930 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:7240710 20130221 OMIM 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10394939|PMID:10453743|PMID:10541294|PMID:10737993|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12559847|PMID:12768081|PMID:12777626|PMID:12899834|PMID:1301173|PMID:1349575|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15365967|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15849466|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:17576681|PMID:17696873|PMID:18282470|PMID:18448374|PMID:18782763|PMID:1879825|PMID:18810341|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20301460|PMID:2039493|PMID:20544097|PMID:20549407|PMID:20564000|PMID:20573805|PMID:20713123|PMID:21176891|PMID:21705122|PMID:21850686|PMID:22018727|PMID:22529745|PMID:22685354|PMID:22781098|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23430879|PMID:23439734|PMID:23551880|PMID:23589421|PMID:23810941|PMID:23861508|PMID:24012869|PMID:24033266|PMID:24055001|PMID:24205397|PMID:24385516|PMID:24718375|PMID:24934730|PMID:24988064|PMID:24990153|PMID:25013605|PMID:25296721|PMID:25363903|PMID:25620715|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26149463|PMID:26252291|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27568336|PMID:27644547|PMID:27659337|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28553045|PMID:28619084|PMID:28660284|PMID:28893421|PMID:28904440|PMID:28906061|PMID:29110180|PMID:29127259|PMID:29244539|PMID:29456205|PMID:29590070|PMID:29959618|PMID:30076350|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:30787879|PMID:31078535|PMID:31215412|PMID:31589614|PMID:31715429|PMID:32556641|PMID:32608139|PMID:32792227|PMID:33408043|PMID:33691640|PMID:33721035|PMID:34031707|PMID:34082749|PMID:35149915|PMID:35661454|PMID:35695965|PMID:7967498|PMID:8101040|PMID:9002528|PMID:9136629|PMID:9192270|PMID:9536098|PMID:9604803 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:736336 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:1059 intellectual disability ISO RGD:736336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:1184 nephrotic syndrome ISO RGD:736336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10453743|PMID:15327387|PMID:15464418|PMID:17495019|PMID:19479957|PMID:25629080|PMID:25741868|PMID:27135212|PMID:28492532|PMID:28619084|PMID:29127259|PMID:30655312 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:12679 nephrocalcinosis ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10541294|PMID:10960483|PMID:12777626|PMID:15327387|PMID:15802217|PMID:15961946|PMID:16912707|PMID:17460142|PMID:17495019|PMID:19155213|PMID:20133649|PMID:23229545|PMID:24012869|PMID:24055001|PMID:24718375|PMID:24988064|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:31078535|PMID:8101040|PMID:9136629|PMID:9192270 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:2977 primary hyperoxaluria ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10453743|PMID:10541294|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12768081|PMID:12777626|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:18282470|PMID:18782763|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20301460|PMID:2039493|PMID:20564000|PMID:20713123|PMID:22018727|PMID:22529745|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23551880|PMID:23810941|PMID:24012869|PMID:24033266|PMID:24205397|PMID:24385516|PMID:24988064|PMID:24990153|PMID:25296721|PMID:25363903|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28619084|PMID:28893421|PMID:28904440|PMID:29127259|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:31078535|PMID:31589614|PMID:32556641|PMID:32792227|PMID:33691640|PMID:33721035|PMID:34031707|PMID:35149915|PMID:8101040|PMID:9136629|PMID:9192270|PMID:9604803 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:630 genetic disease ISO RGD:736336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:9002785 Vitamin B Deficiency IEP D RGD:1599455|PMID:12544342 20180829 RGD 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:1300367|PMID:2039493 19990101 RGD DNA:mutations:cds: 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:1302510|PMID:8101040 19990101 RGD DNA:mutations:cds: 2073 Agxt alanine--glyoxylate aminotransferase gene DOID:9008457 Thrombocytopenia 7 ISO RGD:12409610 D RGD:9068941 20210604 OMIA Hyperoxaluria, primary, type I (Oxalosis I) PMID:1672096|PMID:22486513|PMID:2394849 2074 Ahr aryl hydrocarbon receptor gene DOID:0014667 disease of metabolism ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25768209 2074 Ahr aryl hydrocarbon receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731071 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2074 Ahr aryl hydrocarbon receptor gene DOID:0060180 colitis ISO RGD:731071 D RGD:11554173 20190702 CTD CTD Direct Evidence: therapeutic PMID:27783946 2074 Ahr aryl hydrocarbon receptor gene DOID:0080011 bone resorption disease ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19934163 2074 Ahr aryl hydrocarbon receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731071 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 2074 Ahr aryl hydrocarbon receptor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731071 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 2074 Ahr aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:7240710 20190315 OMIM 2074 Ahr aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 85 PMID:29726989 2074 Ahr aryl hydrocarbon receptor gene DOID:10325 silicosis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22273745 2074 Ahr aryl hydrocarbon receptor gene DOID:10603 glucose intolerance ISO RGD:731071 D RGD:11554173 20200114 CTD CTD Direct Evidence: therapeutic PMID:31306034 2074 Ahr aryl hydrocarbon receptor gene DOID:10763 hypertension ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 2074 Ahr aryl hydrocarbon receptor gene DOID:11355 bladder calculus ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22232670 2074 Ahr aryl hydrocarbon receptor gene DOID:12336 male infertility ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21613234 2074 Ahr aryl hydrocarbon receptor gene DOID:13241 Behcet's disease ISO RGD:731071 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:25045206 2074 Ahr aryl hydrocarbon receptor gene DOID:14566 disease of cellular proliferation ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037238 2074 Ahr aryl hydrocarbon receptor gene DOID:161 keratosis ISO RGD:731071 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 2074 Ahr aryl hydrocarbon receptor gene DOID:1682 congenital heart disease ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19261855 2074 Ahr aryl hydrocarbon receptor gene DOID:178 vascular disease ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 2074 Ahr aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12203118|PMID:25826687 2074 Ahr aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:2325664|PMID:12203118 20100604 RGD mRNA:increased expression:pancreas 2074 Ahr aryl hydrocarbon receptor gene DOID:1936 atherosclerosis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228805 2074 Ahr aryl hydrocarbon receptor gene DOID:2529 splenic disease ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 2074 Ahr aryl hydrocarbon receptor gene DOID:2773 contact dermatitis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2074 Ahr aryl hydrocarbon receptor gene DOID:3138 acanthosis nigricans ISO RGD:731071 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 2074 Ahr aryl hydrocarbon receptor gene DOID:3310 atopic dermatitis ISO RGD:731071 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 2074 Ahr aryl hydrocarbon receptor gene DOID:3910 lung adenocarcinoma ISO RGD:731071 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:12597446 2074 Ahr aryl hydrocarbon receptor gene DOID:409 liver disease ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8692887|PMID:20961953 2074 Ahr aryl hydrocarbon receptor gene DOID:4378 peanut allergy ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804081 2074 Ahr aryl hydrocarbon receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731071 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2074 Ahr aryl hydrocarbon receptor gene DOID:5082 liver cirrhosis ISO RGD:731071 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 2074 Ahr aryl hydrocarbon receptor gene DOID:552 pneumonia ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 2074 Ahr aryl hydrocarbon receptor gene DOID:630 genetic disease ISO RGD:731071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2074 Ahr aryl hydrocarbon receptor gene DOID:7148 rheumatoid arthritis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18617548 2074 Ahr aryl hydrocarbon receptor gene DOID:9000040 Hypertrophy ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 2074 Ahr aryl hydrocarbon receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12107286 2074 Ahr aryl hydrocarbon receptor gene DOID:9000310 Lung Injury ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25831079 2074 Ahr aryl hydrocarbon receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21948867 2074 Ahr aryl hydrocarbon receptor gene DOID:9001009 Adult Pancreatic Cancer ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203118 2074 Ahr aryl hydrocarbon receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 2074 Ahr aryl hydrocarbon receptor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731071 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:33836606 2074 Ahr aryl hydrocarbon receptor gene DOID:9001981 Weight Loss ISO RGD:731071 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34848246 2074 Ahr aryl hydrocarbon receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 2074 Ahr aryl hydrocarbon receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140206 2074 Ahr aryl hydrocarbon receptor gene DOID:9002457 Experimental Arthritis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 2074 Ahr aryl hydrocarbon receptor gene DOID:9002554 Tachycardia ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 2074 Ahr aryl hydrocarbon receptor gene DOID:9002720 Splenomegaly ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8692887 2074 Ahr aryl hydrocarbon receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26593447 2074 Ahr aryl hydrocarbon receptor gene DOID:9003370 Dyslipidemias ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21890736 2074 Ahr aryl hydrocarbon receptor gene DOID:9003753 Ureteral Neoplasms ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19755661 2074 Ahr aryl hydrocarbon receptor gene DOID:9003936 Cardiomegaly ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24247421 2074 Ahr aryl hydrocarbon receptor gene DOID:9003984 Hyperpigmentation ISO RGD:731071 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28029781 2074 Ahr aryl hydrocarbon receptor gene DOID:9003996 Birth Weight ISO RGD:731071 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 2074 Ahr aryl hydrocarbon receptor gene DOID:9004462 Atrophy ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7826670|PMID:20961953 2074 Ahr aryl hydrocarbon receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731071 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:25826687|PMID:27752740 2074 Ahr aryl hydrocarbon receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731071 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:14644620|PMID:31016362 2074 Ahr aryl hydrocarbon receptor gene DOID:9004657 Weight Gain ISO RGD:731071 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034|PMID:36029422 2074 Ahr aryl hydrocarbon receptor gene DOID:9004980 Chronobiology Disorders ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291558 2074 Ahr aryl hydrocarbon receptor gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:10127 D RGD:39939032|PMID:24930766 20201021 RGD 2074 Ahr aryl hydrocarbon receptor gene DOID:9005369 Hepatomegaly ISO RGD:731071 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26278112|PMID:28487374|PMID:33607186|PMID:34848246 2074 Ahr aryl hydrocarbon receptor gene DOID:9005372 Inflammation ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22273745|PMID:25768209 2074 Ahr aryl hydrocarbon receptor gene DOID:9005749 Necrosis ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25831079 2074 Ahr aryl hydrocarbon receptor gene DOID:9005930 Endotoxemia severity ISO RGD:10127 D RGD:39939032|PMID:24930766 20201021 RGD 2074 Ahr aryl hydrocarbon receptor gene DOID:9006202 Pruritus ISO RGD:731071 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 2074 Ahr aryl hydrocarbon receptor gene DOID:9006205 Animal Disease Models ISO RGD:731071 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 2074 Ahr aryl hydrocarbon receptor gene DOID:9006257 Growth Disorders ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 2074 Ahr aryl hydrocarbon receptor gene DOID:9006680 Hyperventilation ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 2074 Ahr aryl hydrocarbon receptor gene DOID:9007188 Liver Neoplasms ISO RGD:731071 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19996281|PMID:30346592 2074 Ahr aryl hydrocarbon receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731071 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21890736|PMID:34848246 2074 Ahr aryl hydrocarbon receptor gene DOID:9007456 Female Infertility ISO RGD:731071 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 2074 Ahr aryl hydrocarbon receptor gene DOID:9007480 Hyperoxia ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 2074 Ahr aryl hydrocarbon receptor gene DOID:9007692 Insulin Resistance ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25734695 2074 Ahr aryl hydrocarbon receptor gene DOID:9008616 Patent Ductus Venosus ISO RGD:731071 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 2074 Ahr aryl hydrocarbon receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21515334|PMID:22296396 2074 Ahr aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:731071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23301081 2074 Ahr aryl hydrocarbon receptor gene DOID:9970 obesity ISO RGD:731071 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034 2074 Ahr aryl hydrocarbon receptor gene DOID:9993 hypoglycemia ISO RGD:731071 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34848246 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736027 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:7240710 20190315 OMIM 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1 PMID:15592877|PMID:15806395|PMID:25741868|PMID:28054173|PMID:31288248|PMID:9003486 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736027 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:11714 gestational diabetes ISO RGD:736027 D RGD:2313814|PMID:12153747 20091016 RGD protein:increased expression:serum 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:182 calcinosis ISO RGD:736027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16177000 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:3021 acute kidney failure ISO RGD:736027 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:3393 coronary artery disease ISO RGD:736027 D RGD:1625792|PMID:17062776 20070705 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:3393 coronary artery disease susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs PMID:17062776|REF_RGD_ID:1625792 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:5844 myocardial infarction ISO RGD:736027 D RGD:2313810|PMID:19029462 20091016 RGD protein:increased expression:plasma 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:585 nephrolithiasis ISO RGD:736027 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:630 genetic disease ISO RGD:736027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736027 D RGD:2313813|PMID:15698447 20091016 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736027 D RGD:2313809|PMID:19228823 20091016 RGD protein:increased expression:serum 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736027 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9007096 Stroke ISO RGD:736027 D RGD:2313810|PMID:19029462 20091016 RGD protein:increased expression:plasma 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9007692 Insulin Resistance ISO RGD:10128 D RGD:1625793|PMID:17011519 20070705 RGD 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9007692 Insulin Resistance ISO RGD:736027 D RGD:1625794|PMID:16567827 20070705 RGD protein:increased expression:plasma 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736027 D RGD:2313811|PMID:18633113 20091016 RGD 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736027 D RGD:2313812|PMID:18316360 20091016 RGD DNA:polymorphism: :-469T>G (rs2077119) (human) 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9970 obesity ISO RGD:10128 D RGD:1625793|PMID:17011519 20070705 RGD 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9970 obesity ISO RGD:736027 D RGD:2313809|PMID:19228823 20091016 RGD protein:increased expression:serum 2075 Ahsg alpha-2-HS-glycoprotein gene DOID:9970 obesity susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 2076 Ak1 adenylate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 2076 Ak1 adenylate kinase 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:736701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 2076 Ak1 adenylate kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 2076 Ak1 adenylate kinase 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:736701 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 2076 Ak1 adenylate kinase 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 2076 Ak1 adenylate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 2076 Ak1 adenylate kinase 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 2076 Ak1 adenylate kinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736701 D RGD:11100022|PMID:17662886 20160614 RGD DNA:missense, deletion mutations:cds: 2076 Ak1 adenylate kinase 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:5508760|PMID:16468349 20111021 RGD protein:decreased expression:cerebral cortex (rat) 2076 Ak1 adenylate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:736701 D RGD:1300279|PMID:10233365 19990101 RGD 2076 Ak1 adenylate kinase 1 gene DOID:5844 myocardial infarction treatment IEP D RGD:11100025|PMID:22229508 20160614 RGD 2076 Ak1 adenylate kinase 1 gene DOID:630 genetic disease ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2076 Ak1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:7240710 20140723 OMIM 2076 Ak1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency PMID:10233365|PMID:12649162|PMID:15315793|PMID:24033266|PMID:2542324|PMID:25741868|PMID:28492532|PMID:9432020 2076 Ak1 adenylate kinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736701 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2076 Ak1 adenylate kinase 1 gene DOID:9008824 Sarcopenia IEP D RGD:5147990|PMID:17611631 20110901 RGD protein:increased expression:gastrocnemius muscle (rat) 2076 Ak1 adenylate kinase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:5134362|PMID:20127051 20110701 RGD protein:increased expression:gastrocnemius muscle (rat) 2076 Ak1 adenylate kinase 1 gene DOID:9970 obesity ISO RGD:736701 D RGD:1601154|PMID:15855311 20070409 RGD protein:increased expression:skeletal muscle 2077 Ak2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:11100026|PMID:19043416 20160614 RGD DNA:missense,nonsense mutations:cds: 2077 Ak2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:7240710 20130221 OMIM 2077 Ak2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Reticular dysgenesis PMID:17576681|PMID:19043416|PMID:19043417|PMID:19414857|PMID:23014587|PMID:23763981|PMID:24033266|PMID:25741868|PMID:26229552|PMID:26997321|PMID:28331055|PMID:28492532|PMID:29270983|PMID:29713328|PMID:30697212|PMID:30778343|PMID:31673062|PMID:32532877|PMID:9536098 2077 Ak2 adenylate kinase 2 gene DOID:0080600 COVID-19 ISO RGD:735291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2077 Ak2 adenylate kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735291 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2077 Ak2 adenylate kinase 2 gene DOID:3328 temporal lobe epilepsy IEP D RGD:11100024|PMID:22246993 20160614 RGD 2077 Ak2 adenylate kinase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:735291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19043416|PMID:19043417 2077 Ak2 adenylate kinase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:735291 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:19043416|PMID:19043417|PMID:26229552|PMID:28331055|PMID:28492532|PMID:29270983|PMID:9536098 2077 Ak2 adenylate kinase 2 gene DOID:630 genetic disease ISO RGD:735291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2077 Ak2 adenylate kinase 2 gene DOID:9008681 Deafness ISO RGD:735291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19043416 2078 Ak4 adenylate kinase 4 gene DOID:0080600 COVID-19 ISO RGD:1606591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2078 Ak4 adenylate kinase 4 gene DOID:1059 intellectual disability ISO RGD:1606591 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 2078 Ak4 adenylate kinase 4 gene DOID:12556 acute kidney tubular necrosis IEP D RGD:5134352|PMID:21152904 20110701 RGD protein:decreased expression:kidney (rat) 2078 Ak4 adenylate kinase 4 gene DOID:630 genetic disease ISO RGD:1606591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2078 Ak4 adenylate kinase 4 gene DOID:8398 osteoarthritis ISO RGD:1606591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2078 Ak4 adenylate kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:2301096|PMID:16538043 20110829 RGD protein:increased expression:liver (rat) 2079 Akap11 A-kinase anchoring protein 11 gene DOID:3312 bipolar disorder ISO RGD:736276 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 2079 Akap11 A-kinase anchoring protein 11 gene DOID:5419 schizophrenia ISO RGD:736276 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 2079 Akap11 A-kinase anchoring protein 11 gene DOID:630 genetic disease ISO RGD:736276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2079 Akap11 A-kinase anchoring protein 11 gene DOID:9007364 Mouth Neoplasms ISO RGD:736276 D RGD:14348954|PMID:15849745 20190201 RGD mRNA:increased expression:oral mucosa: 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732909 D RGD:152995482|PMID:31874165 20220624 RGD mRNA:increased expression:blood plasma (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732909 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12556562 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0060319 cardiac arrest ISO RGD:735336 D RGD:5509101|PMID:20363892 20111028 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:7240710 20180704 OMIM 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:16199547|PMID:17576681|PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23246288|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23884910|PMID:23934607|PMID:24190505|PMID:24657128|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28459198|PMID:28492532|PMID:28655553|PMID:31792197|PMID:9536098 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732909 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:25658812 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease IDA D RGD:10040950|PMID:24498161 20150506 RGD protein:increased serine phosphorylation:cholangiocyte 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:732909 D RGD:5509093|PMID:21430300 20111027 RGD DNA:SNPs:5' utr, intron: (rs1130214, rs2494738) (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735336 D RGD:5509085|PMID:18023354 20111027 RGD protein:increased tyrosine phosphorylation:cerebral cortex 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:10763 hypertension IDA D RGD:10041025|PMID:23323219 20150508 RGD protein:increased serine phosphorylation:kidney 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:732909 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732909 D RGD:2291891|PMID:18190825 20080616 RGD protein:increased expression:urinary bladder 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1245 vulva cancer severity ISO RGD:732909 D RGD:38676500|PMID:22685591 20200922 RGD associated with Papillomavirus Infections 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:5509063|PMID:21793738 20111027 RGD DNA:missense mutation: :p.E17K (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:7240710 20130221 OMIM 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:5509074|PMID:19800394 20111027 RGD protein:altered expression:brain 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:5509076|PMID:18395980 20111027 RGD DNA:SNPs, haplotype:introns:multiple (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:732909 D RGD:5509064|PMID:21741444 20111027 RGD DNA:SNPs:introns:multiple (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:7240710 20180711 OMIM 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21351258 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:732909 D RGD:13450953|PMID:20697673 20171114 RGD protein:increased phosphorylation:pancreas (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:732909 D RGD:13452388|PMID:11595724 20171117 RGD human cells in a mouse model 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1826 epilepsy ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20064661 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1875 impotence treatment IDA D RGD:10053666|PMID:21235725 20150717 RGD associated with Diabetes Mellitus, Experimental 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1909 melanoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24265152|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:1936 atherosclerosis severity ISO RGD:735336 D RGD:5509083|PMID:18054314 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer ISO RGD:732909 D RGD:152995462|PMID:31932471 20220623 RGD human cells in mouse model 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer severity ISO RGD:732909 D RGD:152995462|PMID:31932471 20220623 RGD mRNA:increased expression:colon (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2316 brain ischemia IEP D RGD:5509066|PMID:21596097 20111027 RGD protein:decreased serine phosphorylation:cerebral cortex 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:732909 D RGD:7240710 20190213 OMIM 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer susceptibility ISO RGD:732909 D RGD:1643334|PMID:17611497 20071228 RGD DNA:point mutation:cds:p.E17K (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732909 D RGD:13504677|PMID:20638364 20180116 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732909 D RGD:38676498|PMID:20141546 20200922 RGD DNA:SNP,haplotype:intron: IVS3+18 C/C (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:732909 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:732909 D RGD:13209138|PMID:18392055 20170830 RGD DNA:missense mutation:p.E17K (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3068 glioblastoma ISO RGD:735336 D RGD:734543|PMID:10802656 19990101 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:732909 D RGD:5509079|PMID:19240976 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:732909 D RGD:5509071|PMID:20214684 20111027 RGD DNA:SNP, haplotype: :multiple (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735336 D RGD:5509081|PMID:18273716 20111027 RGD protein:increased expression:skeletal muscle 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3376 bone osteosarcoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3393 coronary artery disease ISO RGD:735336 D RGD:5509083|PMID:18054314 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3458 breast adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3565 meningioma ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732909 D RGD:152995512|PMID:32642408 20220628 RGD protein:increased expression:esophagus (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732909 D RGD:5133243|PMID:21277552 20110608 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732909 D RGD:151357000|PMID:32276600 20220223 RGD human cells in mouse model 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732909 D RGD:150404268|PMID:23632475 20210906 RGD human cells in mouse model 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732909 D RGD:1643331|PMID:17681738 20071228 RGD protein:increased serine phosphorylation:kidney 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5041 esophageal cancer ISO RGD:732909 D RGD:152995510|PMID:27188433 20220628 RGD protein:increased expression:esophagus (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5199 ureteral obstruction IEP D RGD:10041001|PMID:22085202 20150507 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:15982448|PMID:17915974|PMID:21187413 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:1358369|PMID:14745448 19990101 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:5509068|PMID:21049487 20111027 RGD protein:decreased serine phosphorylation:hippocampus, dentate gyrus, neuron 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:5509070|PMID:20921115 20111027 RGD DNA:SNP, haplotype:intron: (rs2494734) (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:5509071|PMID:20214684 20111027 RGD DNA:SNPs, haplotype: :multiple 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:5509088|PMID:17825267 20111027 RGD DNA:SNPs, haplotype:multiple 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732909 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23873848 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction IDA D RGD:10041035|PMID:20352476 20150508 RGD protein:decreased serine phosphorylation:heart 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:732909 D RGD:5509094|PMID:20467748 20111027 RGD protein:increased serine phosphorylation:platelet 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:607 paraplegia IEP D RGD:5509082|PMID:18236467 20111027 RGD mRNA:decreased expression:soleus 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:732909 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:670 amphetamine abuse ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15982448 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732909 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:151893509|PMID:31801250 20220422 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:732909 D RGD:13462042|PMID:24132918 20171206 RGD DNA:missense mutation:cds:p.E17K (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:767 muscular atrophy ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18467435 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732909 D RGD:13674160|PMID:17900686 20180710 RGD protein:increased phosphorylation:blood 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:8646 substance-induced psychosis ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:8719 in situ carcinoma ISO RGD:732909 D RGD:1643333|PMID:16341149 20071228 RGD ductal carcinoma in situ;protein:increased phosphorylation:breast 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:732909 D RGD:5509094|PMID:20467748 20111027 RGD protein:increased serine phosphorylation:platelet 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:8923 skin melanoma ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:8947 diabetic retinopathy IEP D RGD:41410819|PMID:31759996 20210216 RGD mRNA, protein:increased expression:retina 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10040962|PMID:20678995 20150506 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9000641 Pain ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17084039 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:735336 D RGD:5509080|PMID:19124556 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries IEP D RGD:5509090|PMID:16234845 20111027 RGD protein:increased phosphorylation:brain, neuron 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:735336 D RGD:38676477|PMID:23613163 20200921 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002221 Hyperplasia ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20530298 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732909 D RGD:1643332|PMID:17646270 20071228 RGD clear cell sarcoma of kidney;protein:increased serine phosphorylation:kidney 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732909 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:15682402|PMID:29610475|PMID:33129824 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:10041007|PMID:22391142 20150507 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002514 Neointima ISO RGD:735336 D RGD:329328927|PMID:25751394 20230425 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16211241|PMID:21266360 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732909 D RGD:2313763|PMID:18955974 20091014 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735336 D RGD:734544|PMID:12237475 19990101 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735336 D RGD:5509067|PMID:21351045 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9004397 calcification of aortic valve ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21351258 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9004610 Acute Lung Injury severity ISO RGD:735336 D RGD:38676478|PMID:23904165 20200921 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12511591|PMID:21911043|PMID:22619562 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735336 D RGD:2315600|PMID:17210696 20100105 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005369 Hepatomegaly ISO RGD:732909 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:732909 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:24448315|PMID:26297436 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:735336 D RGD:5509095|PMID:19622728 20111028 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation severity ISO RGD:735336 D RGD:38676478|PMID:23904165 20200921 RGD associated with Staphylococcal Infections 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:5131482|PMID:21330660 20150717 RGD protein:decreased serine phosphorylation:cornea 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8657153|PMID:18599524 20161212 RGD protein:increased serine phosphorylation:cortex of kidney 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9005930 Endotoxemia IEP D RGD:38676479|PMID:22824368 20200921 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9006086 Intervertebral Disc Displacement disease_progression ISO RGD:732909 D RGD:5509092|PMID:21590431 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment IDA D RGD:10041003|PMID:21357504 20150507 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732909 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:25658812|PMID:32045588 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9006361 Macrocephaly Mesodermal Hamartoma Spectrum ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elattoproteus syndrome PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732909 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:735336 D RGD:156430337|PMID:36044268 20230228 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9007096 Stroke disease_progression ISO RGD:735336 D RGD:5509077|PMID:19440551 20111027 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9007166 Meningeal Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningeal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9007702 Carcinogenesis ISO RGD:732909 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:5509104|PMID:20217242 20111028 RGD protein:increased phosphorylation:heart left ventricle 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732909 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732909 D RGD:2313763|PMID:18955974 20091014 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20228224 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:1643330|PMID:17892507 20071228 RGD protein:increased serine phosphorylation:breast 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:2313763|PMID:18955974 20091014 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732909 D RGD:1643334|PMID:17611497 20071228 RGD DNA:point mutation:cds:p.E17K (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732909 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732909 D RGD:7240710 20200226 OMIM 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732909 D RGD:151893289|PMID:30789971 20220420 RGD human cells in mouse model 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732909 D RGD:13209139|PMID:21425139 20170830 RGD protein:increased serine phosphorylation:colon 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732909 D RGD:1643334|PMID:17611497 20071228 RGD DNA:point mutation:cds:p.E17K (human) 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2313556|PMID:19052261 20091001 RGD protein:increased serine phosphorylation:vascular associated smooth muscle cell 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732909 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735336 D RGD:2311130|PMID:19289493 20091001 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:39128151|PMID:24735788 20200923 RGD 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9452 fatty liver disease ISO RGD:732909 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9505 cannabis abuse ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 2081 Akt1 AKT serine/threonine kinase 1 gene DOID:9970 obesity ISO RGD:732909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:0050440 familial partial lipodystrophy ISO RGD:732407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:7240710 20140911 OMIM 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy PMID:21979934|PMID:25741868|PMID:28166811|PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732407 D RGD:13504675|PMID:22815832 20180116 RGD DNA:SNP: :rs7254617 (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:10286 prostate carcinoma treatment ISO RGD:732407 D RGD:13504674|PMID:24838891 20180116 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:10763 hypertension IEP D RGD:2313350|PMID:12902546 20090918 RGD mRNA:increased expression:cerebral cortex (rat) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:11612 polycystic ovary syndrome ISS RGD:10132 D RGD:13592920 20180518 MouseDO OMIM:184700 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:1380 endometrial cancer severity ISO RGD:732407 D RGD:13432140|PMID:22146979 20170921 RGD DNA:snp:intron:c.287+993G>A (rs892119) (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:1793 pancreatic cancer ISO RGD:732407 D RGD:2290476|PMID:16847462 20080313 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:1793 pancreatic cancer ISO RGD:732407 D RGD:5490965|PMID:19506583 20120322 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:2340 craniosynostosis ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732407 D RGD:13504677|PMID:20638364 20180116 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:732407 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:732407 D RGD:13674163|PMID:20167810 20180710 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma IDA D RGD:2313297|PMID:19330838 20090916 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:732407 D RGD:2313297|PMID:19330838 20090916 RGD protein:increased expression:cytoplasm (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:326 ischemia IMP D RGD:2313316|PMID:19084003 20090917 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:21479466|PMID:25157968|PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732407 D RGD:2315603|PMID:16721043 20100105 RGD DNA:amplification (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17327441|PMID:17576681|PMID:28341696|PMID:28492532|PMID:9536098 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:2313299|PMID:19309364 20090916 RGD protein:increased phosphorylation:liver cancer cell (rat) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10132 D RGD:127285675|PMID:28100771 20210627 RGD protein:increased phosphorylation:liver (mouse) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732407 D RGD:2315599|PMID:19491266 20100105 RGD associated with Mammary Neoplasms, Experimental 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732407 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732407 D RGD:2290476|PMID:16847462 20080313 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:10132 D RGD:13504676|PMID:21743498 20180116 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10132 D RGD:2315600|PMID:17210696 20100105 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:732407 D RGD:1601155|PMID:17327441 20070409 RGD DNA:SNPs 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2313347|PMID:16418318 20090918 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732407 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16094359|PMID:25157968 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732407 D RGD:2290476|PMID:16847462 20080313 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset IEP D RGD:2313394|PMID:11756242 20090922 RGD protein:increased expression:colon (rat) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:732407 D RGD:2313394|PMID:11756242 20090922 RGD protein:increased expression:colon (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9269 maple syrup urine disease ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10132 D RGD:2311130|PMID:19289493 20100107 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10132 D RGD:734545|PMID:11387480 19990101 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:2307342|PMID:18972094 20090923 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:2313405|PMID:18204829 20090923 RGD protein:decreased activity, phosphorylation:vastus lateralis (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:2313408|PMID:15166380 20090923 RGD DNA:missense mutation:cds:p.R274H (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:7240710 20130221 OMIM 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9970 obesity IEP D RGD:2313320|PMID:18508911 20090917 RGD protein:decreased expression:plantaris (rat) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:10132 D RGD:2313406|PMID:17923673 20090923 RGD 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:732407 D RGD:2313409|PMID:12663464 20090923 RGD protein:decreased activity:rectus abdominis (human) 2082 Akt2 AKT serine/threonine kinase 2 gene DOID:9993 hypoglycemia ISO RGD:732407 D RGD:7248543|PMID:21979934 20130807 RGD 2083 Alad aminolevulinate dehydratase gene DOID:0060041 autism spectrum disorder ISO RGD:736545 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2083 Alad aminolevulinate dehydratase gene DOID:10763 hypertension ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 2083 Alad aminolevulinate dehydratase gene DOID:10763 hypertension no_association ISO RGD:736545 D RGD:1601156|PMID:11335187 20070409 RGD DNA:polymorphism 2083 Alad aminolevulinate dehydratase gene DOID:10923 sickle cell anemia ISO RGD:736545 D RGD:12904674|PMID:900140 20170517 RGD protein:increased activity:erythrocyte 2083 Alad aminolevulinate dehydratase gene DOID:11394 adult respiratory distress syndrome ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2083 Alad aminolevulinate dehydratase gene DOID:11832 visual epilepsy IEP D RGD:4144168|PMID:17320826 20101008 RGD protein:decreased activity:brain, liver (rat) 2083 Alad aminolevulinate dehydratase gene DOID:1459 hypothyroidism IEP D RGD:4144163|PMID:17720948 20101008 RGD protein:decreased activity:blood (rat) 2083 Alad aminolevulinate dehydratase gene DOID:1824 status epilepticus IEP D RGD:4144137|PMID:20026167 20101008 RGD protein:decreased activity:hippocampus, frontal cortex (rat) 2083 Alad aminolevulinate dehydratase gene DOID:2352 hemochromatosis treatment IDA D RGD:12904688|PMID:3679087 20170517 RGD 2083 Alad aminolevulinate dehydratase gene DOID:2355 anemia IDA D RGD:12904694|PMID:21854703 20170517 RGD associated with Trypanosomiasis;protein:increased activity:erythrocyte 2083 Alad aminolevulinate dehydratase gene DOID:3021 acute kidney failure IEP D RGD:4144146|PMID:19484701 20101008 RGD protein:decreased activity:kidney (rat) 2083 Alad aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda ISO RGD:736545 D RGD:12904682|PMID:8100994 20170517 RGD protein:decreased activity:blood, erythrocyte 2083 Alad aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda treatment ISO RGD:736545 D RGD:12904671|PMID:526041 20170517 RGD 2083 Alad aminolevulinate dehydratase gene DOID:3565 meningioma ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16140629 2083 Alad aminolevulinate dehydratase gene DOID:409 liver disease ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 2083 Alad aminolevulinate dehydratase gene DOID:4450 renal cell carcinoma ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21799727 2083 Alad aminolevulinate dehydratase gene DOID:5082 liver cirrhosis IEP D RGD:15042852|PMID:6848403 20191211 RGD protein:decreased activity:liver (human) 2083 Alad aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2083 Alad aminolevulinate dehydratase gene DOID:557 kidney disease ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792432|PMID:24631795 2083 Alad aminolevulinate dehydratase gene DOID:630 genetic disease ISO RGD:736545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2083 Alad aminolevulinate dehydratase gene DOID:74 hematopoietic system disease ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 2083 Alad aminolevulinate dehydratase gene DOID:8955 sideroblastic anemia ISO RGD:10133 D RGD:12904678|PMID:5891055 20170517 RGD protein:decreased activity:kidney, liver, spleen 2083 Alad aminolevulinate dehydratase gene DOID:9000304 Manganese Poisoning IEP D RGD:4144152|PMID:18778733 20101008 RGD protein:decreased activity:striatum (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 2083 Alad aminolevulinate dehydratase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24500903 2083 Alad aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias IEP D RGD:4144806|PMID:6721832 20101014 RGD protein:increased activity:liver (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1905639|PMID:3684400 2083 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4144150|PMID:19043199 20101008 RGD protein:decreased activity:liver, kidney (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10133 D RGD:12904683|PMID:7728901 20170517 RGD protein:decreased activity:blood, liver 2083 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility IEP D RGD:15039405|PMID:10224671 20191205 RGD protein:decreased activity:liver, erythrocyte (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:12904692|PMID:24947461 20170517 RGD 2083 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:12904702|PMID:21864646 20170518 RGD 2083 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:12904704|PMID:18668330 20170518 RGD 2083 Alad aminolevulinate dehydratase gene DOID:9006617 Fatigue IEP D RGD:1599013|PMID:17204241 20070112 RGD mRNA, protein:decreased expression:liver (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:736545 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2083 Alad aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:736545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic PMID:10519994|PMID:11071662|PMID:11342419|PMID:15303011|PMID:1569184|PMID:16398658|PMID:1716854|PMID:17236137|PMID:17576681|PMID:19015748|PMID:1905639|PMID:2063868|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33199206|PMID:3684400|PMID:513604|PMID:9536098 2083 Alad aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria susceptibility ISO RGD:736545 D RGD:7240710 20230505 OMIM 2083 Alad aminolevulinate dehydratase gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21439310 2083 Alad aminolevulinate dehydratase gene DOID:9007964 Arsenic Poisoning IEP D RGD:4144202|PMID:19022878 20101012 RGD protein:decreased activity:blood (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning IDA D RGD:1599014|PMID:16597373 20070112 RGD 2083 Alad aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning IEP D RGD:4144142|PMID:19647414 20101008 RGD protein:decreased activity:blood (rat) 2083 Alad aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:736545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21396434|PMID:23792432|PMID:24631795 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:736755 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:11035244|PMID:21252495 20160212 RGD DNA:missense mutations:cds:p.R452H, R452C, K156E(human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18637800 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:7240710 20130221 OMIM 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:10029606|PMID:10444183|PMID:11110715|PMID:12031592|PMID:12531813|PMID:12663458|PMID:1570328|PMID:16121195|PMID:16446107|PMID:18823803|PMID:20848343|PMID:21309041|PMID:21653323|PMID:22269113|PMID:22740690|PMID:22778251|PMID:22995991|PMID:23315997|PMID:23409301|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28840292|PMID:32297424|PMID:7560104|PMID:7592563|PMID:7705839|PMID:7949148|PMID:8107717|PMID:9226183|PMID:9488633|PMID:9858242 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:11035241|PMID:7560104 20160212 RGD DNA:mutations:exons:p.K299Q,A172T(human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:11035243|PMID:11110715 20160212 RGD DNA:mutation:exon: 1236 G> A, p.C395Y (human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736755 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:736755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:736755 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:25326637|PMID:28492532 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:12849 autistic disorder ISO RGD:736755 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:13271 cutaneous porphyria severity ISO RGD:736755 D RGD:11035240|PMID:21653323 20160212 RGD DNA:mutation:exon: c.1757 A > T, p.Y586F (human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:2352 hemochromatosis severity ISO RGD:736755 D RGD:11035246|PMID:16446107 20160212 RGD DNA:mutation:cds:c.15599C>T,p.520L(human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:2355 anemia IEP D RGD:10449049|PMID:21296123 20160211 RGD mRNA:decreased expression:liver: 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:2741 bilirubin metabolic disorder IEP D RGD:11035235|PMID:8351413 20160212 RGD protein:decreased activity:liver: 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:736755 D RGD:18337288|PMID:23650938 20200122 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:583 hemolytic anemia IEP D RGD:1599038|PMID:17082564 20070112 RGD mRNA:increased expression:liver (rat) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:630 genetic disease ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia ISO RGD:736755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16716198|PMID:16892088 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia susceptibility ISO RGD:736755 D RGD:1599037|PMID:7949148 20070112 RGD DNA:transversion:cds:p.F165L (human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:18337286|PMID:23263862 20200121 RGD DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:7240710 20130221 OMIM 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant PMID:18760763|PMID:23263862|PMID:23409301|PMID:28492532 2084 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant disease_progression ISO RGD:736755 D RGD:18337287|PMID:18760763 20200121 RGD DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) 2085 Alb albumin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12239465 2085 Alb albumin gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:735404 D RGD:2325676|PMID:20358256 20100604 RGD 2085 Alb albumin gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:735404 D RGD:2325683|PMID:908508 20100607 RGD protein:decreased expression:serum 2085 Alb albumin gene DOID:0080000 muscular disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:4126124 2085 Alb albumin gene DOID:0080600 COVID-19 severity ISO RGD:735404 D RGD:30296673|PMID:32198776 20200616 RGD 2085 Alb albumin gene DOID:0080600 COVID-19 severity ISO RGD:735404 D RGD:30309200|PMID:32427582 20200619 RGD 2085 Alb albumin gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:735404 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:2404284|PMID:8347685 2085 Alb albumin gene DOID:10591 pre-eclampsia severity ISO RGD:735404 D RGD:11035264|PMID:21923989 20160215 RGD 2085 Alb albumin gene DOID:1063 interstitial nephritis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10916085|PMID:12217854|PMID:18176075|PMID:23994741 2085 Alb albumin gene DOID:10763 hypertension ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2526952 2085 Alb albumin gene DOID:10952 nephritis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:161594|PMID:2945356|PMID:3656695|PMID:4065304|PMID:9380243|PMID:16326737 2085 Alb albumin gene DOID:10976 membranous glomerulonephritis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1342223|PMID:9794552|PMID:11938814|PMID:12776520|PMID:15385633|PMID:17622271 2085 Alb albumin gene DOID:112 esophageal varix ISO RGD:735404 D RGD:1601159|PMID:8664482 20070409 RGD associated with ascites 2085 Alb albumin gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:735404 D RGD:11035280|PMID:14555823 20160215 RGD 2085 Alb albumin gene DOID:11394 adult respiratory distress syndrome ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12394941 2085 Alb albumin gene DOID:114 heart disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 2085 Alb albumin gene DOID:114 heart disease disease_progression ISO RGD:735404 D RGD:11036094|PMID:15850960 20160217 RGD 2085 Alb albumin gene DOID:11506 suppurative otitis media ISO RGD:8868064 D RGD:9068941 20200609 RGD PMID:1696441|REF_RGD_ID:11556250 2085 Alb albumin gene DOID:1168 familial hyperlipidemia IAGP D RGD:1601160|PMID:6468510 20070409 RGD DNA:mutation 2085 Alb albumin gene DOID:11713 diabetic angiopathy ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19733855 2085 Alb albumin gene DOID:11801 protein-energy malnutrition IEP D RGD:11036082|PMID:9235366 20160217 RGD protein:decreased expression:serum: 2085 Alb albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:11036090|PMID:22203175 20160217 RGD 2085 Alb albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1556257|PMID:17178036 2085 Alb albumin gene DOID:1205 allergic disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 2085 Alb albumin gene DOID:12157 aseptic meningitis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5108595|PMID:5109917|PMID:5536438 2085 Alb albumin gene DOID:12236 primary biliary cholangitis ISO RGD:735404 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 2085 Alb albumin gene DOID:12351 alcoholic hepatitis severity ISO RGD:735404 D RGD:14694842|PMID:29369844 20190617 RGD protein:increased expression, modification:urine 2085 Alb albumin gene DOID:1240 leukemia disease_progression ISO RGD:735404 D RGD:11035296|PMID:24182818 20160216 RGD 2085 Alb albumin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 2085 Alb albumin gene DOID:1287 cardiovascular system disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 2085 Alb albumin gene DOID:13141 uveitis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 2085 Alb albumin gene DOID:13576 twin-to-twin transfusion syndrome ISO RGD:735404 D RGD:11035270|PMID:23208016 20160215 RGD 2085 Alb albumin gene DOID:13580 cholestasis ISO RGD:735404 D RGD:11035297|PMID:6431134 20160216 RGD 2085 Alb albumin gene DOID:13603 obstructive jaundice IEP D RGD:11036102|PMID:9161836 20160217 RGD 2085 Alb albumin gene DOID:13619 extrahepatic cholestasis ISO RGD:735404 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 2085 Alb albumin gene DOID:14089 root caries susceptibility ISO RGD:735404 D RGD:11035291|PMID:17959907 20160216 RGD 2085 Alb albumin gene DOID:14227 azoospermia ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27289041 2085 Alb albumin gene DOID:14525 Reye syndrome treatment IEP D RGD:14694843|PMID:25162205 20190617 RGD 2085 Alb albumin gene DOID:1496 echinococcosis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 2085 Alb albumin gene DOID:1555 urticaria ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 2085 Alb albumin gene DOID:1558 angioedema ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 2085 Alb albumin gene DOID:1579 respiratory system disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 2085 Alb albumin gene DOID:1588 thrombocytopenia ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 2085 Alb albumin gene DOID:1596 depressive disorder ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9029664 2085 Alb albumin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735404 D RGD:2325675|PMID:20508721 20100604 RGD 2085 Alb albumin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735404 D RGD:2325678|PMID:18154768 20100607 RGD 2085 Alb albumin gene DOID:1826 epilepsy ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15356194|PMID:17121744 2085 Alb albumin gene DOID:2237 hepatitis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21851314 2085 Alb albumin gene DOID:2316 brain ischemia ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16809570 2085 Alb albumin gene DOID:2527 nephrosis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3301049 2085 Alb albumin gene DOID:26 pancreas disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17169978 2085 Alb albumin gene DOID:2855 hyperthyroxinemia susceptibility ISO RGD:735404 D RGD:1599027|PMID:8048949 20070112 RGD 2085 Alb albumin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 2085 Alb albumin gene DOID:2921 glomerulonephritis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3160244|PMID:6343549|PMID:6769622|PMID:8501856|PMID:17161813|PMID:17464766|PMID:18462998|PMID:19524415 2085 Alb albumin gene DOID:2983 anuria ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 2085 Alb albumin gene DOID:3021 acute kidney failure ISO RGD:735404 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2048579|PMID:21259293|PMID:24361871|PMID:28885000 2085 Alb albumin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735404 D RGD:11036100|PMID:22227456 20160217 RGD 2085 Alb albumin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735404 D RGD:2325677|PMID:19011933 20100607 RGD 2085 Alb albumin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735404 D RGD:11036091|PMID:23778417 20160217 RGD 2085 Alb albumin gene DOID:3910 lung adenocarcinoma ISO RGD:735404 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 2085 Alb albumin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735404 D RGD:2325679|PMID:20431764 20100607 RGD 2085 Alb albumin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735404 D RGD:2325680|PMID:17545000 20100607 RGD 2085 Alb albumin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735404 D RGD:2325682|PMID:10776430 20100607 RGD 2085 Alb albumin gene DOID:4989 pancreatitis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17169977 2085 Alb albumin gene DOID:5082 liver cirrhosis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17977396|PMID:21851314 2085 Alb albumin gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735404 D RGD:11035282|PMID:23285146 20160215 RGD associated with Head and Neck Neoplasms; 2085 Alb albumin gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16903978 2085 Alb albumin gene DOID:552 pneumonia disease_progression ISO RGD:735404 D RGD:11035283|PMID:23286966 20160215 RGD 2085 Alb albumin gene DOID:557 kidney disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:350256|PMID:2386429|PMID:7297036|PMID:16316336|PMID:17303580|PMID:20438795|PMID:21338618|PMID:24863737 2085 Alb albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:839733|PMID:1011057|PMID:7288527|PMID:7297036|PMID:10916085|PMID:12217854|PMID:14514721|PMID:16326737|PMID:18176075 2085 Alb albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:1601158|PMID:8677191 20070409 RGD associated with hypertension 2085 Alb albumin gene DOID:6000 congestive heart failure ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11771600 2085 Alb albumin gene DOID:6000 congestive heart failure disease_progression ISO RGD:735404 D RGD:11036096|PMID:22158777 20160217 RGD 2085 Alb albumin gene DOID:620 blood protein disease ISO RGD:735404 D RGD:11035265|PMID:20603593 20160215 RGD DNA:missense mutation:cds:p.D293G,K198I(human) 2085 Alb albumin gene DOID:6271 gastric cardia adenocarcinoma disease_progression ISO RGD:735404 D RGD:11035298|PMID:15585392 20160216 RGD 2085 Alb albumin gene DOID:630 genetic disease ISO RGD:735404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2085 Alb albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:11035269|PMID:23892757 20160215 RGD 2085 Alb albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:125097525|PMID:22392353 20210522 RGD protein:decreased expression:serum (human) 2085 Alb albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 2085 Alb albumin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735404 D RGD:14694841|PMID:29040987 20190617 RGD associated with hepatitis C;protein:decreased expression:serum 2085 Alb albumin gene DOID:783 end stage renal disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11938814 2085 Alb albumin gene DOID:783 end stage renal disease disease_progression ISO RGD:735404 D RGD:11036089|PMID:11849406 20160217 RGD 2085 Alb albumin gene DOID:8577 ulcerative colitis ISO RGD:735404 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2085 Alb albumin gene DOID:8893 psoriasis ISO RGD:735404 D RGD:6483512|PMID:22607558 20120523 RGD 2085 Alb albumin gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735404 D RGD:11036083|PMID:6683982 20160217 RGD 2085 Alb albumin gene DOID:9000046 Poisoning ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10511253 2085 Alb albumin gene DOID:9000058 Keloid ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 2085 Alb albumin gene DOID:9000217 Stomach Neoplasms ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 2085 Alb albumin gene DOID:9000310 Lung Injury ISO RGD:735404 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:30953400 2085 Alb albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:7240710 20160608 OMIM 2085 Alb albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad PMID:11781148|PMID:12028999|PMID:15300429|PMID:15996651|PMID:16183048|PMID:17952464|PMID:18459107|PMID:18602380|PMID:18791744|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29981851|PMID:3353369|PMID:7937781|PMID:8134387|PMID:9266687 2085 Alb albumin gene DOID:9000641 Pain ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:4126124 2085 Alb albumin gene DOID:9000784 Fibrosis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 2085 Alb albumin gene DOID:9000790 Postoperative Complications spontaneous ISO RGD:735404 D RGD:11035295|PMID:23225108 20160216 RGD 2085 Alb albumin gene DOID:9000998 Brain Injuries ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7909931|PMID:17188501 2085 Alb albumin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735404 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2085 Alb albumin gene DOID:9001361 Pancreatic Fistula spontaneous ISO RGD:735404 D RGD:11035295|PMID:23225108 20160216 RGD associated with Postoperative Complications; 2085 Alb albumin gene DOID:9001542 Albuminuria IEP D RGD:1601157|PMID:15102963 20070409 RGD associated with hypertension 2085 Alb albumin gene DOID:9001542 Albuminuria ISO RGD:735404 D RGD:2306884|PMID:19414946 20090511 RGD associated with Diabetes Mellitus, Insulin-Dependent 2085 Alb albumin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606|PMID:21163135 2085 Alb albumin gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 2085 Alb albumin gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:735404 D RGD:11036086|PMID:20716836 20160217 RGD 2085 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:11035290|PMID:3129213 20160216 RGD 2085 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8048949|PMID:8064810|PMID:9329347 2085 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:7240710 20171011 OMIM 2085 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic PMID:12099390|PMID:12743361|PMID:15251607|PMID:18029235|PMID:1859851|PMID:19336879|PMID:1946412|PMID:2104980|PMID:22230555|PMID:2226433|PMID:2247440|PMID:2304452|PMID:2339130|PMID:25741868|PMID:26169058|PMID:28492532|PMID:2901102|PMID:29133890|PMID:29676214|PMID:3338164|PMID:3479777|PMID:3780972|PMID:5926635|PMID:683332|PMID:8022807|PMID:8048949|PMID:8064810|PMID:9329347|PMID:9589637 2085 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia severity ISO RGD:735404 D RGD:11035292|PMID:19844712 20160216 RGD 2085 Alb albumin gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:735404 D RGD:11035281|PMID:24370342 20160215 RGD 2085 Alb albumin gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2306882|PMID:19424163 20090511 RGD associated with Metabolic Syndrome X;protein:increased expression:urine 2085 Alb albumin gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2306885|PMID:19397971 20090511 RGD associated with Diabetes Mellitus, Experimental 2085 Alb albumin gene DOID:9002165 Diabetic Nephropathies IEP D RGD:5135032|PMID:21441310 20120322 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine 2085 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16380483 2085 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:2306886|PMID:19246226 20090511 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine 2085 Alb albumin gene DOID:9002457 Experimental Arthritis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 2085 Alb albumin gene DOID:9002513 Hypoproteinemia IAGP D RGD:734959|PMID:1690892 20070112 RGD 2085 Alb albumin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735404 D RGD:1599028|PMID:7937781 20070112 RGD 2085 Alb albumin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19376187 2085 Alb albumin gene DOID:9003284 HIV Seropositivity ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17209195 2085 Alb albumin gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19389874 2085 Alb albumin gene DOID:9004009 Reperfusion Injury IEP D RGD:2325686|PMID:20193666 20100607 RGD mRNA, protein:increased expression:brain 2085 Alb albumin gene DOID:9004250 Hepatic Insufficiency ISO RGD:735404 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 2085 Alb albumin gene DOID:9004484 Sepsis disease_progression ISO RGD:735404 D RGD:11036079|PMID:22801198 20160217 RGD protein:decreased expression:serum: 2085 Alb albumin gene DOID:9004590 Acute Liver Failure ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16750869|PMID:18609519 2085 Alb albumin gene DOID:9004610 Acute Lung Injury IDA D RGD:6483494|PMID:22592748 20120523 RGD 2085 Alb albumin gene DOID:9005369 Hepatomegaly ISO RGD:735404 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 2085 Alb albumin gene DOID:9005463 Occupational Diseases ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23791970 2085 Alb albumin gene DOID:9005474 Experimental Sarcoma ISO RGD:10136 D RGD:11035284|PMID:1900492 20160215 RGD mRNA,protein:decreased expression:liver,serum: 2085 Alb albumin gene DOID:9005818 Serum Sickness ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:350256|PMID:9380243 2085 Alb albumin gene DOID:9006024 Hypotension ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4463119|PMID:11229087 2085 Alb albumin gene DOID:9006205 Animal Disease Models ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606 2085 Alb albumin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735404 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 2085 Alb albumin gene DOID:9007096 Stroke ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14514741|PMID:16174931|PMID:16809570|PMID:17270091 2085 Alb albumin gene DOID:9007096 Stroke disease_progression ISO RGD:735404 D RGD:11036080|PMID:8291969 20160217 RGD 2085 Alb albumin gene DOID:9007271 Hypoalbuminemia ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10337936 2085 Alb albumin gene DOID:9007271 Hypoalbuminemia treatment ISO RGD:735404 D RGD:11035279|PMID:9034259 20160215 RGD 2085 Alb albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18779383|PMID:22310181 2085 Alb albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10136 D RGD:14694844|PMID:27567545 20190617 RGD 2085 Alb albumin gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:735404 D RGD:11036095|PMID:16869456 20160217 RGD protein:decreased expression:serum: 2085 Alb albumin gene DOID:9007730 Burns disease_progression ISO RGD:735404 D RGD:11036092|PMID:23917657 20160217 RGD 2085 Alb albumin gene DOID:9007787 Carcinoid Tumor ISO RGD:735404 D RGD:11036087|PMID:975003 20160217 RGD protein:decreased expression:serum: 2085 Alb albumin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9572063 2085 Alb albumin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735404 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2085 Alb albumin gene DOID:9008386 Hydrops Fetalis disease_progression ISO RGD:735404 D RGD:11036098|PMID:17195148 20160217 RGD 2085 Alb albumin gene DOID:9008443 Colorectal Neoplasms disease_progression ISO RGD:735404 D RGD:11035272|PMID:16965244 20160215 RGD 2085 Alb albumin gene DOID:936 brain disease ISO RGD:735404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15923801 2085 Alb albumin gene DOID:9538 multiple myeloma disease_progression ISO RGD:735404 D RGD:11035276|PMID:17096887 20160215 RGD 2085 Alb albumin gene DOID:9675 pulmonary emphysema ISO RGD:735404 D RGD:11035274|PMID:24365562 20160215 RGD 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:736747 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736747 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:0080855 Parkinsonism ISO RGD:736747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:1793 pancreatic cancer ISO RGD:736747 D RGD:2325688|PMID:19216797 20100607 RGD protein:decreased expression:pancreas 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:1909 melanoma ISO RGD:736747 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:409 liver disease ISO RGD:736747 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:4450 renal cell carcinoma ISO RGD:736747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:630 genetic disease ISO RGD:736747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2087 Aldh1a1 aldehyde dehydrogenase 1 family, member A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736747 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26783756|PMID:29626521 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:733180 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733180 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:10126 keratoconus ISO RGD:733180 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:12849 autistic disorder ISO RGD:733180 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:2349 arteriosclerosis ISO RGD:733180 D RGD:2300309|PMID:3949078 20080911 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:630 genetic disease ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:83 cataract ISO RGD:733180 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 2088 Aldh3a1 aldehyde dehydrogenase 3 family, member A1 gene DOID:9004321 Corneal Injuries ISO RGD:733180 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060019 coronin-1A deficiency ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060041 autism spectrum disorder ISO RGD:30308195 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:30308195 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:30308195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:30308195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:12849 autistic disorder ISO RGD:30308195 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:1882 atrial heart septal defect ISO RGD:30308195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:2634 cystadenoma ISO RGD:735815 D RGD:2325696|PMID:19077459 20100607 RGD protein:increased expression:pancreas 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:3910 lung adenocarcinoma ISO RGD:30308195 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:5419 schizophrenia ISO RGD:30308195 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:630 genetic disease ISO RGD:30308195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9000965 Neoplasm Metastasis ISO RGD:30308195 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9004009 Reperfusion Injury IEP D RGD:1599061|PMID:10395295 20070115 RGD 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30308195 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:30308195 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9005930 Endotoxemia IEP D RGD:1599054|PMID:16930621 20070115 RGD 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:30308195 D RGD:7240710 20200624 OMIM 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:30308195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:17576681|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25741868|PMID:2825199|PMID:28492532|PMID:8598869|PMID:9536098 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:30308195 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9006646 Metabolic Syndrome IEP D RGD:13673877|PMID:21890532 20180625 RGD mRNA:increased expression:aorta 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9007102 Myocardial Ischemia ISO RGD:30308195 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9008939 Breast Neoplasms ISO RGD:30308195 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 2089 Aldoa aldolase, fructose-bisphosphate A gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:10139 D RGD:13673876|PMID:25637246 20180625 RGD 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:1059 intellectual disability ISO RGD:737371 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:2048 autoimmune hepatitis ISO RGD:737371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:630 genetic disease ISO RGD:737371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:15880727|PMID:18188031|PMID:18541450|PMID:1967768|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:22995991|PMID:23430936|PMID:25741868|PMID:26937407|PMID:28492532|PMID:32860008|PMID:33028743|PMID:8071980|PMID:8299883|PMID:8299892|PMID:8880583 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:8283 peritonitis IEP D RGD:2313429|PMID:8403244 20090924 RGD mRNA:increased expression:liver (rat) 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9000217 Stomach Neoplasms ISO RGD:737371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9002669 Hypoxia ISO RGD:737371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313437|PMID:2984252 20090925 RGD mRNA:reduced expression:liver, small intestine (rat) 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:916 liver benign neoplasm IEP D RGD:2313432|PMID:8264573 20090924 RGD protein:increased activity:liver (rat) 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9351 diabetes mellitus ISO RGD:10140 D RGD:2313440|PMID:11904435 20090925 RGD mRNA:reduced expression:pancreatic islet (mouse) 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2313414|PMID:19106228 20090924 RGD 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313414|PMID:19106228 20090923 RGD mRNA:decreased expression:soleus (rat) 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:737371 D RGD:2313434|PMID:12646233 20090924 RGD DNA:SNP:intron: (human) 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3383242|PMID:15733923|PMID:18035330 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:1300369|PMID:8096362 19990101 RGD 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:7240710 20130221 OMIM 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose intolerance | ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency | ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Hereditary fructose intolerance PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 2090 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome susceptibility ISO RGD:737371 D RGD:1599063|PMID:15532022 20070115 RGD 2091 Aldoc aldolase, fructose-bisphosphate C gene DOID:438 autoimmune disease of the nervous system ISO RGD:69125 D RGD:2301134|PMID:16356555 20080929 RGD associated with Streptococcal Infections 2091 Aldoc aldolase, fructose-bisphosphate C gene DOID:5154 borna disease IEP D RGD:2301132|PMID:17182680 20080929 RGD mRNA, protein:decreased expression:cerebellum, Purkinje cell 2091 Aldoc aldolase, fructose-bisphosphate C gene DOID:630 genetic disease ISO RGD:69125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2091 Aldoc aldolase, fructose-bisphosphate C gene DOID:684 hepatocellular carcinoma IEP D RGD:2301136|PMID:3830170 20080929 RGD mRNA:increased expression:liver 2091 Aldoc aldolase, fructose-bisphosphate C gene DOID:9007096 Stroke ISO RGD:69125 D RGD:2301133|PMID:17053973 20080929 RGD protein:increased expression:cerebrospinal fluid 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:10534 stomach cancer ISO RGD:732178 D RGD:8548675|PMID:23808167 20140318 RGD mRNA:decreased expression:stomach (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:1205 allergic disease IDA D RGD:1626088|PMID:16979157 20070709 RGD associated with Diabetes Mellitus, Experimental 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:736610 D RGD:8548674|PMID:10913167 20140318 RGD 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:2349 arteriosclerosis ISO RGD:732178 D RGD:1626081|PMID:16127462 20070709 RGD associated with Diabetes Mellitus, Experimental 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:289 endometriosis ISO RGD:732178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:4195 hyperglycemia IEP D RGD:1626079|PMID:17211565 20070709 RGD protein:increased expression:brain, liver 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:4500 hypokalemia IEP D RGD:1626084|PMID:17409277 20070709 RGD 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732178 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:630 genetic disease ISO RGD:732178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:684 hepatocellular carcinoma IEP D RGD:5509919|PMID:21683810 20140319 RGD protein:increased expression:liver (rat) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:684 hepatocellular carcinoma ISO RGD:732178 D RGD:8548685|PMID:19422879 20140319 RGD protein:increased expression:liver (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:83 cataract IDA D RGD:1626083|PMID:17444799 20070709 RGD associated with Galactosemia 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:83 cataract ISO RGD:732178 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:21329682|PMID:21376710|PMID:25541468|PMID:28137510 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:83 cataract ISO RGD:732178 D RGD:8548638|PMID:21329682 20140314 RGD human gene in mouse model 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:83 cataract susceptibility ISO RGD:732178 D RGD:8548672|PMID:24360973 20140318 RGD associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:83 cataract treatment IMP D RGD:8548671|PMID:18452283 20140318 RGD 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:8947 diabetic retinopathy IDA D RGD:1626080|PMID:17003340 20070709 RGD associated with Diabetes Mellitus, Experimental 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:8947 diabetic retinopathy IEP D RGD:8548684|PMID:8150024 20140319 RGD protein:increased expression:retinal astrocyte (rat) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:732178 D RGD:8548676|PMID:21067572 20140318 RGD associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732178 D RGD:8548640|PMID:19587357 20140314 RGD associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732178 D RGD:8548668|PMID:16701918 20140318 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9001542 Albuminuria ISO RGD:732178 D RGD:8548813|PMID:12166624 20140320 RGD associated with Diabetes Mellitus, Experimental;human gene in a rat model 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732178 D RGD:734542|PMID:9215310 19990101 RGD 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:732178 D RGD:8548641|PMID:9000706 20140314 RGD associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9002211 Hyperalgesia IDA D RGD:1626082|PMID:12505670 20070709 RGD associated with Hyperglycemia 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9002661 Diabetes Complications ISO RGD:732178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25304492|PMID:25541468 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9005372 Inflammation ISO RGD:736610 D RGD:1626087|PMID:17030682 20070709 RGD 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8548781|PMID:8204669 20140319 RGD mRNA:increased expression:kidney (rat) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9007102 Myocardial Ischemia IDA D RGD:1626092|PMID:16567803 20070709 RGD protein:increased activity:heart 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146748 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9008609 Endotoxin-Induced Uveitis treatment IDA D RGD:8548683|PMID:17898287 20140319 RGD 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732178 D RGD:8548678|PMID:15569136 20140318 RGD DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9743 diabetic neuropathy IDA D RGD:1626089|PMID:16900242 20070709 RGD associated with Diabetes Mellitus, Experimental 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:732178 D RGD:8548642|PMID:9489533 20140314 RGD associated with Diabetes Mellitus, Type 1;DNA:repeat:promoter:g.(CA)n (human) 2092 Akr1b1 aldo-keto reductase family 1 member B1 gene DOID:9870 galactosemia IEP D RGD:1599728|PMID:16936110 20070709 RGD protein:increased expression:endothelial cell, lens 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:0060180 colitis ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15821759 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:732775 D RGD:4890423|PMID:10984370 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:10247 pleurisy IMP D RGD:4890429|PMID:9109363 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:10459 common cold ISO RGD:732775 D RGD:4890421|PMID:11865407 20101217 RGD protein:increased expression:bronchus 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:10762 portal hypertension IDA D RGD:1626153|PMID:11832453 20070716 RGD associated with Liver Cirrhosis, Experimental 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:10763 hypertension IDA D RGD:1626151|PMID:16331105 20070716 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:11396 pulmonary edema IMP D RGD:4890432|PMID:8111595 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:11664 nephrosclerosis ISO RGD:732775 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:1184 nephrotic syndrome IMP D RGD:2317535|PMID:19194550 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:14319 pleuropneumonia ISO RGD:10147 D RGD:4890419|PMID:12773506 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:1555 urticaria ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:2317523|PMID:12481414 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:2317524|PMID:12163367 20100408 RGD protein:increased expression:pancreas 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2316 brain ischemia IMP D RGD:2317525|PMID:20204486 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2349 arteriosclerosis ISO RGD:732775 D RGD:1331525|PMID:15118671 20140211 GAD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2349 arteriosclerosis ISO RGD:732775 D RGD:734559|PMID:14702425 19990101 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:10147 D RGD:4890408|PMID:19033731 19990101 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:10147 D RGD:4890422|PMID:11035107 20101217 RGD protein:increased expression:lung 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:10147 D RGD:5147462|PMID:8879219 20110805 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:4890410|PMID:18204779 20101216 RGD DNA:polymorphism:cds:p.E254K (human) 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:4890413|PMID:17394438 20101216 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:5147467|PMID:9642160 20110805 RGD mRNA:increased expression:blood, leukocyte 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:7240710 20230505 OMIM 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma no_association ISO RGD:732775 D RGD:4890407|PMID:20128419 20101216 RGD DNA:polymorphism:promoter (human) 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma no_association ISO RGD:732775 D RGD:5147465|PMID:12911785 20110805 RGD DNA:polymorphism:promoter (human) 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma severity ISO RGD:732775 D RGD:4890415|PMID:16364163 20101216 RGD DNA:repeat:promoter (human) 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma treatment ISO RGD:732775 D RGD:734557|PMID:10369259 19990101 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732775 D RGD:4890411|PMID:18174194 20101216 RGD DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:299 adenocarcinoma ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:3007 breast ductal carcinoma ISO RGD:732775 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:3021 acute kidney failure IMP D RGD:2317536|PMID:19194548 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:3525 middle cerebral artery infarction ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:3627 aortic aneurysm ISO RGD:10147 D RGD:1626150|PMID:17182931 20070716 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:3770 pulmonary fibrosis ISO RGD:732775 D RGD:4890430|PMID:8621765 20101217 RGD protein:altered localization:alveolar macrophage, nuclear membrane 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:3910 lung adenocarcinoma ISO RGD:732775 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:4450 renal cell carcinoma ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:4905 pancreatic carcinoma ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:4947 cholangiocarcinoma ISO RGD:732775 D RGD:2317521|PMID:18507031 20100408 RGD protein:increased expression:bile duct 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:630 genetic disease ISO RGD:732775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension IDA D RGD:734558|PMID:8647941 19990101 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension IMP D RGD:4890418|PMID:14726295 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14726295 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:14975304|PMID:31462075 20191010 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:1626154|PMID:9445303 20070716 RGD protein:increased expression:artery 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension treatment IEP D RGD:14975304|PMID:31462075 20191010 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:657 adenoma ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:7148 rheumatoid arthritis ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:4890414|PMID:17118201 20101216 RGD Acute Lung Injury 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:4890417|PMID:15894604 20101217 RGD Ventilator-Induced Lung Injury 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:8552 chronic myeloid leukemia ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19503090|PMID:19823023 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:8719 in situ carcinoma ISO RGD:732775 D RGD:2317522|PMID:16024599 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9000076 Closed Fractures ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9000217 Stomach Neoplasms ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9000641 Pain IMP D RGD:2317533|PMID:19580807 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10147 D RGD:4890435|PMID:20231413 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002211 Hyperalgesia ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002589 Bone Fractures IMP D RGD:2317529|PMID:19884440 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002906 Multiple Organ Failure ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15241586 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9002928 Colonic Neoplasms ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:18927292|PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732775 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury IEP D RGD:1626152|PMID:14769366 20070716 RGD protein:increased expression:cerebral hemisphere 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury IMP D RGD:2317531|PMID:19816089 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15266012 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9004271 Colonic Polyps ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9005236 Drug Eruptions ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation IMP D RGD:4890433|PMID:1386887 20101217 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9005930 Endotoxemia ISO RGD:732775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15328337 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9007480 Hyperoxia IEP D RGD:4890420|PMID:12490039 20101217 RGD protein:increased expression:lung 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2317527|PMID:20011686 20100408 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:732775 D RGD:5147463|PMID:16677242 20110805 RGD 2096 Alox5 arachidonate 5-lipoxygenase gene DOID:9008604 Radiation Pneumonitis IMP D RGD:4890434|PMID:1886988 20101217 RGD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:10459 common cold ISO RGD:736460 D RGD:4890421|PMID:11865407 20101217 RGD protein:increased expression:bronchus 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:1612 breast cancer ISO RGD:736460 D RGD:2313902|PMID:18843019 20091026 RGD DNA:polymorphism:g.-4800A>G (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:1936 atherosclerosis ISO RGD:736460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:1969 cerebral palsy ISO RGD:736460 D RGD:2313892|PMID:18977990 20091026 RGD DNA:SNP (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736460 D RGD:2313905|PMID:18258817 20091027 RGD mRNA:increased expression:atherosclerotic lesions (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736461 D RGD:2313913|PMID:17379835 20091027 RGD mRNA:increased expression:aorta, adipose tissue (mouse) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:5147466|PMID:10527888 20110805 RGD DNA:repeat:promoter:-169(A)21 (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:5147467|PMID:9642160 20110805 RGD mRNA:increased expression:blood, leukocyte 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:4890422|PMID:11035107 20101217 RGD protein:increased expression:lung 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:5147462|PMID:8879219 20110805 RGD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:4890407|PMID:20128419 20101216 RGD DNA:polymorphism:promoter (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:5147464|PMID:15784112 20110805 RGD DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:5147465|PMID:12911785 20110805 RGD DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:4890405|PMID:20067482 20101216 RGD DNA:SNP: :rs10507391 (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:4890409|PMID:18547289 20101216 RGD DNA:SNPs (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2921 glomerulonephritis onset IEP D RGD:2313931|PMID:14733414 20091027 RGD protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3393 coronary artery disease ISO RGD:736460 D RGD:2313883|PMID:19596330 20091026 RGD DNA:snps:multiple (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3454 brain infarction ISO RGD:736460 D RGD:2311309|PMID:18506375 20091026 RGD associated with Metabolic Syndrome X; DNA:polymorphism:g.162A>C rs4769055 (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3526 cerebral infarction susceptibility ISO RGD:736460 D RGD:7240710 20230505 OMIM 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3602 toxic encephalopathy ISO RGD:736460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:409 liver disease ISO RGD:736460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:557 kidney disease ISO RGD:736460 D RGD:2313888|PMID:19288030 20091026 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:576 proteinuria ISO RGD:736460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12649539 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction ISO RGD:736460 D RGD:1331525|PMID:15118671 19990101 GAD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction ISO RGD:736460 D RGD:1578317|PMID:14770184 19990101 RGD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction no_association ISO RGD:736460 D RGD:2313891|PMID:19046748 20091026 RGD DNA:snps:multiple (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:630 genetic disease ISO RGD:736460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension IMP D RGD:734558|PMID:8647941 20101217 RGD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:736460 D RGD:1626154|PMID:9445303 20101217 RGD protein:increased expression:artery 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:769 neuroblastoma ISO RGD:736460 D RGD:2313903|PMID:18591367 20091026 RGD mRNA, protein:increased expression:neuroblastoma (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736460 D RGD:5147461|PMID:19364335 20110805 RGD protein:increased expression:nasal turbinate 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2313895|PMID:18959458 20091026 RGD mRNA:increased expression:mammary gland tumor (rat) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation IMP D RGD:5147469|PMID:19749079 20110805 RGD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke IEP D RGD:2313907|PMID:17922411 20091027 RGD mRNA:increased expression:leukocyte (rat) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:736460 D RGD:1331525|PMID:15118671 19990101 GAD 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:736460 D RGD:2313886|PMID:19373490 20091026 RGD DNA:polymorphism: :2354T>A (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007480 Hyperoxia IEP D RGD:4890420|PMID:12490039 20110805 RGD protein:increased expression:lung 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736460 D RGD:2313884|PMID:19596146 20091026 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 2097 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736461 D RGD:2313913|PMID:17379835 20091027 RGD mRNA:increased expression:adipose tissue (mouse) 2099 Alpi alkaline phosphatase, intestinal gene DOID:0050589 inflammatory bowel disease ISO RGD:737157 D RGD:14367877|PMID:29567797 20190213 RGD DNA:mutations:cds: 2099 Alpi alkaline phosphatase, intestinal gene DOID:0060476 Perlman syndrome ISO RGD:737157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 2099 Alpi alkaline phosphatase, intestinal gene DOID:0110991 Joubert syndrome 22 ISO RGD:737157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 2099 Alpi alkaline phosphatase, intestinal gene DOID:630 genetic disease ISO RGD:737157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2099 Alpi alkaline phosphatase, intestinal gene DOID:8577 ulcerative colitis ISO RGD:737157 D RGD:14367879|PMID:22783049 20190213 RGD protein:decreased expression:colonic mucosa 2099 Alpi alkaline phosphatase, intestinal gene DOID:8778 Crohn's disease ISO RGD:737157 D RGD:14367879|PMID:22783049 20190213 RGD protein:decreased expression:colonic mucosa 2099 Alpi alkaline phosphatase, intestinal gene DOID:9007204 Dysbiosis IMP D RGD:14367878|PMID:28985873 20190213 RGD 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0060578 Noonan syndrome 1 ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11438998|PMID:12815606|PMID:22397652|PMID:25731960|PMID:25741868|PMID:28492532 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0080006 bone development disease ISO RGD:1346147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10679946|PMID:19500388|PMID:24100244|PMID:25741868|PMID:28492532|PMID:30755392|PMID:3174660 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:7240710 20130221 OMIM 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23509830|PMID:23688511|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25100374|PMID:25716980|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28586049|PMID:28749478|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:30138938|PMID:30283912|PMID:30293248|PMID:30446691|PMID:30555565|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31857675|PMID:32066479|PMID:32160374|PMID:32973344|PMID:33452237|PMID:33549410|PMID:33814268|PMID:33977024|PMID:34000433|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:7240710 20130221 OMIM 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10834525|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11810413|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12230456|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:15840803|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23580367|PMID:23688511|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27312557|PMID:27699270|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28939177|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30755392|PMID:30979366|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32112990|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33601892|PMID:33814268|PMID:33977024|PMID:34000433|PMID:35320273|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:7240710 20130221 OMIM 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15300736|PMID:15671102|PMID:15694177|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17922851|PMID:18340466|PMID:18523927|PMID:18559907|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22397652|PMID:22913777|PMID:22995991|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28401263|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28763161|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:30249491|PMID:30283912|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31088113|PMID:31641588|PMID:31707452|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8675582 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:10907 microcephaly ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11760847|PMID:12162492|PMID:18455459|PMID:18769927|PMID:18821074|PMID:25023282|PMID:25741868|PMID:28492532|PMID:30293248|PMID:31857675|PMID:32160374|PMID:33452237|PMID:9452105 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:11476 osteoporosis ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:10679946|PMID:19500388|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32973344 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32066479|PMID:32160374|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30049651|PMID:30283912|PMID:30576866|PMID:30719581|PMID:31600233|PMID:31641588|PMID:31707452|PMID:32066479|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:12466 secondary hyperparathyroidism ISO RGD:1346147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22373954 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:13809 familial combined hyperlipidemia ISO RGD:1346147 D RGD:1601173|PMID:16336518 20070410 RGD 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia ISO RGD:1346147 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10636450|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11802776|PMID:11834095|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18818947|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23688511|PMID:23791648|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26219717|PMID:26272126|PMID:26432670|PMID:26432671|PMID:26459154|PMID:26467025|PMID:26783040|PMID:26823351|PMID:26896157|PMID:27179278|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30249491|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30655187|PMID:30719581|PMID:30755392|PMID:30864637|PMID:31088113|PMID:31146036|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32112990|PMID:32160374|PMID:32879991|PMID:32973344|PMID:32981126|PMID:32987199|PMID:33191482|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33827627|PMID:33977024|PMID:34000433|PMID:35320273|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia susceptibility ISO RGD:1346147 D RGD:1599076|PMID:8406453 20070116 RGD 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:182 calcinosis ISO RGD:1346147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21193197 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:2349 arteriosclerosis ISO RGD:1346147 D RGD:1601172|PMID:17010978 20070410 RGD protein:decrease expression:serum 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:409 liver disease ISO RGD:1346147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:4676 uremia IEP D RGD:2315619|PMID:18288101 20100106 RGD protein:increased expression:aorta 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:630 genetic disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332035|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12357339|PMID:1409720|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17253930|PMID:17719863|PMID:18455459|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20739387|PMID:20924064|PMID:21956185|PMID:22014174|PMID:23791648|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26432670|PMID:26432671|PMID:26467025|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:29620724|PMID:30049651|PMID:30293248|PMID:31600233|PMID:3174660|PMID:31793067|PMID:31857675|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33191482|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33814268|PMID:33977024|PMID:9452105|PMID:9781036 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:65 connective tissue disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:8719 in situ carcinoma ISO RGD:1346147 D RGD:2315616|PMID:10547581 20100106 RGD associated with Testicular Neoplasms;protein:increased expression:testis 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1346147 D RGD:2315616|PMID:10547581 20100106 RGD protein:increased expression:testis 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000808 Hypercholesterolemia IEP D RGD:1601171|PMID:17403193 20070410 RGD 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000927 Alveolar Bone Loss ISO RGD:1346147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20630305 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9001292 Odontohypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia PMID:10094560|PMID:10332035|PMID:10679946|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15671102|PMID:17576681|PMID:17719863|PMID:18340466|PMID:18455459|PMID:19232125|PMID:19500388|PMID:20739387|PMID:21168482|PMID:24569605|PMID:25716980|PMID:25731960|PMID:25741868|PMID:28492532|PMID:28663156|PMID:29236161|PMID:30719581|PMID:31600233|PMID:31641588|PMID:32160374|PMID:32973344|PMID:33549410|PMID:33814268|PMID:8675582|PMID:9452105|PMID:9536098 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9002202 Opsismodysplasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20739387|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:32160374|PMID:32973344|PMID:33549410 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346147 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9003004 MICROMELIA ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micromelia PMID:25741868|PMID:28492532|PMID:29160033|PMID:31146036 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9004649 Heat Stroke ISO RGD:1346147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16878031 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9004919 Perinatal Lethal Hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perinatal lethal hypophosphatasia PMID:10679946|PMID:11745997|PMID:16199547|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23454488|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:31400546|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33601892|PMID:33814268|PMID:9781036 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9006205 Animal Disease Models ISO RGD:1346147 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1346147 D RGD:1601174|PMID:16249437 20070410 RGD protein:increased expression:serum 2100 Alpl alkaline phosphatase, biomineralization associated gene DOID:9452 fatty liver disease ISO RGD:1346147 D RGD:1601177|PMID:16197789 20070410 RGD associated with obesity 2101 Ambn ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:7240710 20170215 OMIM 2101 Ambn ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F PMID:24858907|PMID:25741868|PMID:26502894|PMID:28492532 2101 Ambn ameloblastin gene DOID:630 genetic disease ISO RGD:736409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2101 Ambn ameloblastin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis IEP D RGD:6904219|PMID:15533056 20121016 RGD protein:increased expression:urine 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:735479 D RGD:6904147|PMID:16622176 20121010 RGD 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:1074 kidney failure ISO RGD:735479 D RGD:6904142|PMID:18046670 20121010 RGD 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:11394 adult respiratory distress syndrome ISO RGD:735479 D RGD:6904148|PMID:15710155 20121010 RGD 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:11400 pyelonephritis ISO RGD:735479 D RGD:6904156|PMID:19205372 20121010 RGD 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:2671 transitional cell carcinoma ISO RGD:735479 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14644129 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:2841 asthma ISO RGD:735479 D RGD:6904149|PMID:14621078 20121010 RGD protein:increased expression:serum 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8963945|PMID:28885000 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:6904218|PMID:8963945 20121016 RGD 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:3324 mood disorder ISO RGD:735479 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29987918 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:630 genetic disease ISO RGD:735479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9000998 Brain Injuries ISO RGD:735479 D RGD:6904155|PMID:14592616 20121010 RGD protein:increased expression:urine 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735479 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14644129 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9005372 Inflammation ISO RGD:735479 D RGD:6904143|PMID:17765145 20121010 RGD associated with Hypertension 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735479 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2102 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18779383 2104 Amd1 adenosylmethionine decarboxylase 1 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1351440 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 2104 Amd1 adenosylmethionine decarboxylase 1 gene DOID:10283 prostate cancer ISO RGD:1351440 D RGD:14390073|PMID:30397274 20190218 RGD protein:increased expression:prostate 2104 Amd1 adenosylmethionine decarboxylase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1351440 D RGD:14390072|PMID:30650190 20190218 RGD DNA:SNP: :rs1279590(human) 2104 Amd1 adenosylmethionine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1351440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2104 Amd1 adenosylmethionine decarboxylase 1 gene DOID:9002569 Overweight ISO RGD:1351440 D RGD:14390074|PMID:22496743 20190218 RGD DNA:SNP: :rs2796749(human) 2107 Amelx amelogenin, X-linked gene DOID:0090109 autosomal dominant hypocalcemia IEP D RGD:1599092|PMID:15721149 20070116 RGD 2107 Amelx amelogenin, X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:7240710 20130221 OMIM 2107 Amelx amelogenin, X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 2107 Amelx amelogenin, X-linked gene DOID:12849 autistic disorder ISO RGD:735379 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2107 Amelx amelogenin, X-linked gene DOID:13938 amenorrhea ISO RGD:735379 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 2107 Amelx amelogenin, X-linked gene DOID:2187 amelogenesis imperfecta ISO RGD:735379 D RGD:1300370|PMID:8406474 19990101 RGD 2107 Amelx amelogenin, X-linked gene DOID:2187 amelogenesis imperfecta ISO RGD:735379 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 2107 Amelx amelogenin, X-linked gene DOID:630 genetic disease ISO RGD:735379 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2107 Amelx amelogenin, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735379 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 21079475 SD-Leprem4Lizh strain DOID:10603 glucose intolerance IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079475 SD-Leprem4Lizh strain DOID:2018 hyperinsulinism IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079475 SD-Leprem4Lizh strain DOID:4195 hyperglycemia IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079475 SD-Leprem4Lizh strain DOID:9002916 Hyperphagia IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079475 SD-Leprem4Lizh strain DOID:9003370 Dyslipidemias IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079476 Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh gene DOID:10603 glucose intolerance IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079476 Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh gene DOID:2018 hyperinsulinism IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079476 Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh gene DOID:4195 hyperglycemia IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079476 Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh gene DOID:9002916 Hyperphagia IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079476 Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh gene DOID:9003370 Dyslipidemias IMP D RGD:12911216|PMID:26537785 20200218 RGD 21079726 Derpc DERPC proline and glycine rich nuclear protein gene DOID:630 genetic disease ISO RGD:13825203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2108 Amh anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:7240710 20130221 OMIM 2108 Amh anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I PMID:11760020|PMID:1483695|PMID:1809231|PMID:2023927|PMID:24033266|PMID:2562843|PMID:25741868|PMID:28492532|PMID:28528332|PMID:30668521|PMID:30786001|PMID:31277073|PMID:31291191|PMID:32172781 2108 Amh anti-Mullerian hormone gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736161 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 2108 Amh anti-Mullerian hormone gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:736161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 2108 Amh anti-Mullerian hormone gene DOID:11612 polycystic ovary syndrome ISO RGD:736161 D RGD:1601181|PMID:17224152 20070410 RGD protein:increased expression:serum 2108 Amh anti-Mullerian hormone gene DOID:13501 Moebius syndrome ISO RGD:736161 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 2108 Amh anti-Mullerian hormone gene DOID:1612 breast cancer onset ISO RGD:736161 D RGD:2315637|PMID:19820206 20100107 RGD 2108 Amh anti-Mullerian hormone gene DOID:1923 disorder of sexual development susceptibility ISO RGD:736161 D RGD:1601180|PMID:1483695 20070410 RGD Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon 2108 Amh anti-Mullerian hormone gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:736161 D RGD:2315639|PMID:19359032 20100107 RGD 2108 Amh anti-Mullerian hormone gene DOID:4001 ovarian carcinoma treatment ISO RGD:736161 D RGD:2315652|PMID:16533786 20100107 RGD 2108 Amh anti-Mullerian hormone gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736161 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 2108 Amh anti-Mullerian hormone gene DOID:630 genetic disease ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2108 Amh anti-Mullerian hormone gene DOID:9002739 Female Urogenital Diseases ISO RGD:736161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 2108 Amh anti-Mullerian hormone gene DOID:9002762 Ovarian Neoplasms ISO RGD:736161 D RGD:2315638|PMID:19424576 20100107 RGD mRNA, protein:increased expression:ovary 2108 Amh anti-Mullerian hormone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736161 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2108 Amh anti-Mullerian hormone gene DOID:9970 obesity ISO RGD:736161 D RGD:1601182|PMID:17109858 20070410 RGD protein:decreased expression:serum 21085220 CVCL_6536 dRLh-84 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C60416 21085660 CVCL_5U50 RSC3-E2 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21085662 CVCL_5U51 RSC3-LM cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21085664 CVCL_5U45 RLT-3C cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21085666 CVCL_5U46 RLT-5G cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21085668 CVCL_5U47 RLT-9F cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21085670 CVCL_5U48 Rca-B cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21085678 CVCL_5U44 RLT-2M cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21085680 CVCL_5U49 UHG-RaC '93 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21085682 CVCL_5U60 LCSC-6 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085688 CVCL_5U56 LCSC-2 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085690 CVCL_5U57 LCSC-3 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085692 CVCL_5U58 LCSC-4 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085694 CVCL_5U59 LCSC-5 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085696 CVCL_5U52 RSC3-E2R cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21085699 CVCL_5U54 CGCCA cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085702 CVCL_5U55 LCSC-1 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21085854 CVCL_5T80 RIN-5F-CrmA cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21085858 CVCL_5T79 RIN-5F-Bcl-2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21086003 CVCL_5V11 REN-2 cell line DOID:2154 nephroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60478 21086009 CVCL_5V10 REN-1 cell line DOID:2154 nephroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60478 21086203 CVCL_6726 SCC-131 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21086205 CVCL_6727 SCC-158 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21086211 CVCL_6733 THC-253 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21086213 CVCL_6734 H5D cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21086223 CVCL_6732 THC-252 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21086614 CVCL_6849 RNK-16 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21086909 CVCL_H537 R5-28 clone C7 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21086911 CVCL_H538 R5-28 clone D6 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21086919 CVCL_H535 R5-28 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21086921 CVCL_H536 R5-28 clone C4 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21086977 CVCL_H522 RH7777/EDG6 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21086979 CVCL_H523 RH7777/P2Y5 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21086987 CVCL_H521 RH7777/EDG4 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21087346 CVCL_H698 AH371A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21087843 CVCL_GU04 CRI-G1-RS cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21088458 CVCL_H713 MtT/S cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21088460 CVCL_H714 MtT/Se cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21088462 CVCL_H715 MtT/SM cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21088470 CVCL_H712 MtT/E cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21088499 CVCL_H702 AH173-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21088507 CVCL_H700 AH311-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21088509 CVCL_H701 AH225A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21088796 CVCL_6E50 RT4-D6 cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21088797 CVCL_6E51 Nb2-SFJCD1 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60448 21088970 CVCL_6D47 RLC [Rat lymphosarcoma] cell line DOID:0060060 non-Hodgkin lymphoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C179055 21088990 CVCL_6D58 LTC clone Rex cell line DOID:3371 chondrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60376 21088993 CVCL_6D55 LTC 86 cell line DOID:3371 chondrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60376 21088994 CVCL_6D56 LTC 93 cell line DOID:3371 chondrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60376 21088995 CVCL_6D57 LTC clone Ng cell line DOID:3371 chondrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60376 21089001 CVCL_YJ89 LINTERNA PC-12 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:0080000 muscular disease ISO RGD:735799 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11102975|PMID:18380285 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:0080690 RASopathy ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:12849 autistic disorder ISO RGD:735799 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autism PMID:25155876|PMID:28492532 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:329349360|PMID:11028479 20230518 RGD DNA:SNP:exon 2:34C>T (human) 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:6000 congestive heart failure susceptibility ISO RGD:735799 D RGD:329349356|PMID:15135700 20230509 RGD DNA:SNP:exon 2:CT (human) 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735799 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:25741868|PMID:28492532 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9005532 Muscle Weakness ISO RGD:735799 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10996775 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735799 D RGD:329412475|PMID:16875916 20230518 RGD associated with congestive heart failure; DNA:SNP:exon 2:34C>T (human) 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9007712 Adenosine Monophosphate Deaminase Deficiency ISO RGD:735799 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1631143|PMID:10996775|PMID:11102975 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:7240710 20190717 OMIM 2109 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:10996775|PMID:11102975|PMID:12117480|PMID:15173240|PMID:15378456|PMID:16199547|PMID:1631143|PMID:17576681|PMID:1922051|PMID:19353846|PMID:21343608|PMID:25155876|PMID:25741868|PMID:28492532|PMID:29095874|PMID:8335021|PMID:9536098 21092128 CVCL_HA75 JB1 [Rat hepatocellular carcinoma] cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21092129 CVCL_HA76 AFB-1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21092189 CVCL_HA30 ROT68/C1 cell line DOID:3713 ovary adenocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C129858 21092190 CVCL_HA31 ROT68/C1 Cis-Ptr cell line DOID:3713 ovary adenocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C129858 21092194 CVCL_HA28 NuTu-19 cell line DOID:3713 ovary adenocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C129858 21092195 CVCL_HA29 ROT58/C3 cell line DOID:3713 ovary adenocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C129858 21092781 CVCL_6F08 RCHO cell line DOID:3594 choriocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60377 21094569 CVCL_Z943 RUCA-I cell line DOID:2870 endometrial adenocarcinoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C63961 21094570 CVCL_Z944 RUCA-II cell line DOID:2870 endometrial adenocarcinoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C63961 21095818 CVCL_7675 IR983F cell line DOID:9538 multiple myeloma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C125416 21095838 CVCL_7692 NGUK-1 cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21096562 CVCL_7091 PC6 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096563 CVCL_7092 PC6-1 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096564 CVCL_7093 PC6-10 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096565 CVCL_7094 PC6-11 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096566 CVCL_7090 PC4 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096567 CVCL_7099 PC6-16 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096568 CVCL_7095 PC6-12 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096569 CVCL_7096 PC6-13 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096570 CVCL_7097 PC6-14 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096571 CVCL_7098 PC6-15 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096864 CVCL_7100 PC6-2 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096866 CVCL_7101 PC6-3 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096868 CVCL_7102 PC6-4 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096890 CVCL_7107 PC6-9 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096896 CVCL_7103 PC6-5 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096898 CVCL_7104 PC6-6 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096900 CVCL_7105 PC6-7 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21096902 CVCL_7106 PC6-8 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21097007 CVCL_7176 CBRH-7919 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21097301 CVCL_7217 HTC (BUdR) cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21097339 CVCL_7229 XCp cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21097345 CVCL_7226 INS-1 832/13 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21099274 CVCL_7996 Rcho-1 cell line DOID:3594 choriocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60377 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0050952 spastic ataxia ISO RGD:1346106 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1346106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1346106 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:7240710 20140911 OMIM 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 PMID:23911318|PMID:25741868|PMID:27066553|PMID:28492532|PMID:28815207|PMID:29463858|PMID:31130284|PMID:32214227 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:7240710 20150708 OMIM 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:16199547|PMID:17576681|PMID:23911318|PMID:24482476|PMID:25558065|PMID:25741868|PMID:27159321|PMID:28492532|PMID:28832565|PMID:29463858|PMID:31130284|PMID:31833174|PMID:32552793|PMID:9536098 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:1059 intellectual disability ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:10907 microcephaly ISO RGD:1346106 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:12849 autistic disorder ISO RGD:1346106 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346106 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 2110 Ampd2 adenosine monophosphate deaminase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:28492532|PMID:32552793 21101159 CVCL_HX29 KDH-8 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21104733 CVCL_8154 GH4I12 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21106214 CVCL_8733 MTHC-1 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21106744 CVCL_8855 CRI-10P cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21106954 CVCL_8780 A15A5 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21107293 CVCL_8948 C58(NT)D.1.G.OUAR.1 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60448 21108671 CVCL_8369 MSK cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21108724 CVCL_8360 JTC-16 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21108726 CVCL_8361 JTC-16.P3 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21109410 CVCL_8562 FF101 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21109657 CVCL_J367 c-WRT-7-LR cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21109659 CVCL_J366 c-WRT-7 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21109682 CVCL_IR39 ROS 17/2 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21109845 CVCL_J296 PA-23 cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21109858 CVCL_J295 RT-2 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 2111 Ampd3 adenosine monophosphate deaminase 3 gene DOID:2661 myoepithelioma ISO RGD:732010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 2111 Ampd3 adenosine monophosphate deaminase 3 gene DOID:630 genetic disease ISO RGD:732010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2111 Ampd3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:7240710 20171011 OMIM 2111 Ampd3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency PMID:25158045|PMID:25741868|PMID:28492532|PMID:7881427|PMID:8004104 21110146 CVCL_J439 PC12HS.P3 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21110148 CVCL_J438 PC12HS cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21110176 CVCL_J440 PC12IS cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21110178 CVCL_J442 PC12-AC cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21110180 CVCL_J441 PC12MS cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21112824 CVCL_S568 BT4Cn cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21112828 CVCL_S569 BT2C cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21112849 CVCL_S556 ARIP/PDX-1 cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21113865 CVCL_0176 BP8 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21113889 CVCL_0143 AR42J cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21113919 CVCL_0154 B104 [Rat neuroblastoma] cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21113984 CVCL_0133 A126-1B2 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21114018 CVCL_0109 123.7 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21114023 CVCL_S742 DEX-Faza 967 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114150 CVCL_0194 C6 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21114293 CVCL_S739 Faza 967 clone 2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114377 CVCL_0284 H4-II-E cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114380 CVCL_0285 H4-II-E-C3 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114413 CVCL_0261 FGC4 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114417 CVCL_0268 Fa32 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114419 CVCL_0269 Fao cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21114432 CVCL_0273 GH3 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21114434 CVCL_0274 GH3B6 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21114435 CVCL_0277 GH4ZR7 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21114436 CVCL_0276 GH4C1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21114524 CVCL_0225 CRI-G1 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21114878 CVCL_IV56 F4C1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21114883 CVCL_IV58 NS1 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21115147 CVCL_S122 RCS cell line DOID:3371 chondrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60376 21115153 CVCL_S123 RCS-LTC cell line DOID:3371 chondrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60376 21115937 CVCL_J993 INS-2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21116405 CVCL_IX01 RZ 328 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21116684 CVCL_S478 UMR-104 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21116686 CVCL_S477 UMR-106-06 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21116688 CVCL_S479 UMR-105 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21118950 CVCL_0377 KRC-7 [Rat hepatoma] cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21119003 CVCL_0352 INS-1 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21119004 CVCL_0351 INS-1E cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21119435 CVCL_0481 PC12 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21119437 CVCL_0483 PC2 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21119442 CVCL_0487 PR1 [Rat pituitary tumor] cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21119459 CVCL_0496 RBL-1 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21119693 CVCL_0444 McA-RH7777 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21119937 CVCL_0591 RBL-2H3 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21120306 CVCL_0508 ROS 17/2.8 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21120317 CVCL_0501 RIN-m5F cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21120318 CVCL_0500 RIN-5AH cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21120320 CVCL_0502 RIN-5AH-T2B cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21120588 CVCL_0610 GH1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21121256 CVCL_B397 ENU-T-1 cell line DOID:2154 nephroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60478 21121813 CVCL_AS19 SL-1-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21122758 CVCL_AV00 PC-12 HD-Q74 cell 1b cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21122800 CVCL_AU97 PC-12 HD-Q23 cell 14 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21122804 CVCL_AU99 PC-12 HD-Q74 cell 10 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21122806 CVCL_AU98 PC-12 HD-Q23 cell 7 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21124061 CVCL_B048 F98npEGFRvIII cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21124062 CVCL_B047 F98 EGFR cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21125325 CVCL_JK04 RT4-67 cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21126984 CVCL_0J60 AH64D-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21126985 CVCL_0J62 AH41A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21126986 CVCL_0J61 AH42B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21126987 CVCL_0J64 AH41C-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21126988 CVCL_0J63 AH41B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21126992 CVCL_0J67 LSR-SF (SR) cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21126993 CVCL_0J59 AH64C-2-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21126994 CVCL_0J58 AH64C-1-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21127007 CVCL_0J73 AH35TC2-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21127063 CVCL_0J57 AH64B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21127608 CVCL_JX88 PC12h cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21127612 CVCL_JX89 PC12h-R cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21129180 CVCL_0E02 AR42J-B13 cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21129673 CVCL_0F78 7777-14b-aza cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 2113 Amy1 amylase alpha 1 gene DOID:12849 autistic disorder ISO RGD:1319648 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2113 Amy1 amylase alpha 1 gene DOID:1826 epilepsy ISO RGD:1319648 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2113 Amy1 amylase alpha 1 gene DOID:630 genetic disease ISO RGD:1319648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 21130541 CVCL_0Q50 BA-HAN-1C cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21130555 CVCL_0Q47 BA-HAN-1 cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21130559 CVCL_0Q49 BA-HAN-1B cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21130561 CVCL_0Q48 BA-HAN-1A cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21132572 CVCL_KA18 RH7777/EDG3 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21132927 CVCL_JY77 BN-175 cell line DOID:3382 liposarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60434 21132945 CVCL_JY59 Neuroscreen-1 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21133329 CVCL_JY18 KYD-44B cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133330 CVCL_JY17 KYD-44A cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133331 CVCL_JY19 KYD-49 cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133332 CVCL_JY14 KYD-17 cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133333 CVCL_JY13 KYD-12 cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133334 CVCL_JY16 KYD-38 cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133335 CVCL_JY15 KYD-32 cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133337 CVCL_JY12 KYD-10 cell line DOID:0080916 erythroleukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C135722 21133940 CVCL_JZ16 RuGli cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21134665 CVCL_T752 PC12-F7 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21134669 CVCL_T754 SS-P cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60403 21134671 CVCL_T753 PC12-G11 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21134969 CVCL_0P64 RMS/0 cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21134973 CVCL_0P66 S4T cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21134975 CVCL_0P65 RMS/8 cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21136938 CVCL_C129 PC12nnr6 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21136953 CVCL_C126 PC12nnr14 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21136960 CVCL_C128 PC12nnr5 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21136962 CVCL_C127 PC12nnr3 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21136988 CVCL_C130 PC12-615 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21137438 CVCL_0U14 KMT-17 clone A3 cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60403 21138353 CVCL_1891 XC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21138779 CVCL_1949 A-S-30D cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21138819 CVCL_1928 9L cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21138953 CVCL_1970 C6-BU-1 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21138986 CVCL_1981 CL-38 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21138989 CVCL_1984 CL-49IV cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21138992 CVCL_1983 CL-44 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21138997 CVCL_1985 CL-50IIa cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21139005 CVCL_1951 B35 cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21139611 CVCL_1D84 TB1A2 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21140097 CVCL_1D01 Novikoff-Hepatoma cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21140098 CVCL_1D00 Zajdela-Hepatoma cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21140101 CVCL_1D05 RY(ham) Yoshida Sarcoma cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21140132 CVCL_L176 B-23 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21143179 CVCL_1B44 H35R0.3 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21143825 CVCL_U363 235-1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21144195 CVCL_U259 ROS 17/2.8-5 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21144467 CVCL_U434 RIN 1027-B2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21144477 CVCL_U435 RIN 1046-38 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21144479 CVCL_U436 RIN 1056A cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21144713 CVCL_U370 GH3/GH-EYFP cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21144716 CVCL_U371 MtT/E-2 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21145328 CVCL_U615 S635c15 cell line DOID:3069 malignant astrocytoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C60436 21145370 CVCL_2085 JTC-27 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21145373 CVCL_2084 JTC-15 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21145378 CVCL_U697 9L-7 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21145380 CVCL_U698 9L-8 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21145384 CVCL_U696 9L-2 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21145393 CVCL_2043 FL-64 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21145418 CVCL_2055 HB-894 cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 21145479 CVCL_2042 FL-106 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21146061 CVCL_L436 SGS/4A cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21146259 CVCL_KU65 RBL-2H3 MRGPRX1 Gq cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21146265 CVCL_KU64 RBL-2H3 ADORA2A Gq cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21147297 CVCL_U216 AH601.P3 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21147303 CVCL_L879 JF1 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21149559 CVCL_2103 LF-CL2A cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21149601 CVCL_2113 MH-7777A cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21149603 CVCL_2114 MH1C1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21149607 CVCL_2117 MMQ cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21149782 CVCL_2145 NT-92 cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 2115 Andpro androgen regulated protein gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1352376 D RGD:9068941 20230330 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 2115 Andpro androgen regulated protein gene DOID:630 genetic disease ISO RGD:1352376 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2115 Andpro androgen regulated protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1352376 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:19463800 2115 Andpro androgen regulated protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352376 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 2115 Andpro androgen regulated protein gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:14696816|PMID:20007950 20190729 RGD protein:decreased expression:corpus cavernosum penis (rat) 2115 Andpro androgen regulated protein gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1352376 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:23950865 21150191 CVCL_2212 TA-85B5 cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21150291 CVCL_1Q92 RY-PB cell line DOID:4226 endometrial stromal sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60395 21150293 CVCL_1Q93 RY-B-E3 cell line DOID:4226 endometrial stromal sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60395 21150312 CVCL_1Q72 MT-R8 cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21150314 CVCL_1Q73 MT-R9 cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21150316 CVCL_1Q70 MT-8L cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21150318 CVCL_1Q71 MT-9L cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21150334 CVCL_1Q80 LY-PPB6 cell line DOID:5940 malignant peripheral nerve sheath tumor IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C125415 21150344 CVCL_1Q76 KE-P cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21150346 CVCL_1Q77 KE-F11 cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21150348 CVCL_1Q74 KB-P cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21150350 CVCL_1Q75 KB-D8 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21150352 CVCL_1Q78 KJ-A cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21150354 CVCL_1Q79 LY-H12 cell line DOID:5940 malignant peripheral nerve sheath tumor IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C125415 21151615 CVCL_D164 RIN-A12 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21151617 CVCL_D165 RIN-A13 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21151621 CVCL_D163 RIN-r cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21151870 CVCL_D104 3'-mRLh-2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21151990 CVCL_D271 LT12 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21154455 CVCL_D052 HL1C cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21154456 CVCL_D053 HTC4 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21155305 CVCL_2G79 INS-1 833/117 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155306 CVCL_2G77 INS-1 834/40 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155307 CVCL_2G78 INS-1 833/15 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155451 CVCL_M462 NHI-6F cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155454 CVCL_M463 NHI-6F-28 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155456 CVCL_M460 MSL-G2-Tu6 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155458 CVCL_M461 NHI-5B cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155493 CVCL_M446 MSL-G2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21155497 CVCL_M444 GIST-DR cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21156952 CVCL_D538 B103 cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21157160 CVCL_D580 UMR-106-01 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21157537 CVCL_D623 XC-v cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21157559 CVCL_D602 36B10 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21157855 CVCL_UJ46 GH3C1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21157856 CVCL_UJ47 GH3C6 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21157858 CVCL_UJ45 GH1-2C1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21158945 CVCL_M274 CC-62 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21159921 CVCL_DC28 H4L7.5c2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21159927 CVCL_DC26 H4G1.1c2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21159928 CVCL_DC27 H4L1.1c4 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21160710 CVCL_3396 McA-RH8994 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21160718 CVCL_3384 JM2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21160722 CVCL_3382 HTC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21160758 CVCL_3361 C2-Rev 7 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21161021 CVCL_M866 TaD-1-6 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21161023 CVCL_M867 TaD-1-7 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21161025 CVCL_M864 TaD-1-4 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21161027 CVCL_M865 TaD-1-5 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21161031 CVCL_M863 TaD-1-2 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21161144 CVCL_M806 NB-YK cell line DOID:2154 nephroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60478 21161148 CVCL_M804 MT-P cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21161150 CVCL_M805 MT-PR cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21161152 CVCL_M802 MT-10 cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21161154 CVCL_M803 MT-10R cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21161156 CVCL_M800 MFH1NR cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21161158 CVCL_M801 MT-7 cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21161362 CVCL_M798 COS2NR cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21161364 CVCL_M799 COS4NR cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21161368 CVCL_M797 COS1NR cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21161966 CVCL_M884 JTC-1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21161968 CVCL_M885 JTC-2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21162420 CVCL_V361 PC12 Tet-Off cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21162459 CVCL_V333 PC12 Tet-On cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21163086 CVCL_3870 7800C1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21163143 CVCL_3860 Nb2-11 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60448 21163868 CVCL_3944 7316A cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21164415 CVCL_DN63 PC12 HTT-SW2-Q23-TagRFP clone 34 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21164416 CVCL_DN64 PC12 HTT-SW2-Q73 clone 29 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21164417 CVCL_DN61 PC12 HTT-SW2-Q145-TagRFP clone 5 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21164418 CVCL_DN62 PC12 HTT-SW2-Q23 clone 28 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21164421 CVCL_DN65 PC12 HTT-SW2-Q73-TagRFP clone 17 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21164423 CVCL_DN60 PC12 HTT-SW2-Q145 clone 14 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21164772 CVCL_3417 RT 1 cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60403 21164920 CVCL_3488 ARIP cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21165089 CVCL_3552 N1-S1 Fudr cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21165095 CVCL_3551 N1-S1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21165152 CVCL_3531 Jensen sarcoma cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21165211 CVCL_3512 H4TG cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21165214 CVCL_3510 F98 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21165216 CVCL_3511 FAT 7 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21165253 CVCL_3528 IA-XsSBR cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21165325 CVCL_3594 Rn6T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C134942 21165333 CVCL_3581 RG2 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21165355 CVCL_3592 Rn3T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C134942 21165357 CVCL_3593 Rn4T cell line DOID:14566 disease of cellular proliferation IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C134942 21165367 CVCL_3583 RIN-14B cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21165369 CVCL_3584 RIN-m cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21165371 CVCL_3589 RR1022 cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21165748 CVCL_3617 UMR-106 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21165750 CVCL_3618 UMR-108 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21166078 CVCL_3785 RC-4B/C cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21166983 CVCL_VH12 PC12-D60 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21166984 CVCL_VH13 PC12-1G2 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21166985 CVCL_VH10 PC12-2B3 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21166986 CVCL_VH11 PC12-C3 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21169309 CVCL_E111 FAA-HTC1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21169434 CVCL_E273 ROS 2/3 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21169686 CVCL_E231 ROS 25/1 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21170077 CVCL_DR21 Rca-T cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21170992 CVCL_W197 DSL-6B/C1 cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21172752 CVCL_E899 C611B cell line DOID:4947 cholangiocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60372 21174375 CVCL_4367 AH130 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21174385 CVCL_4368 AH66-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21174434 CVCL_4342 Y3-Ag 1.2.3 cell line DOID:9538 multiple myeloma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C125416 21174624 CVCL_W946 INS-r3-GK27 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21174626 CVCL_W945 INS-r3 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21174668 CVCL_4293 RN 22 cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21174700 CVCL_4274 Phi-1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21174727 CVCL_4283 RC-4B/C1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21175047 CVCL_4459 OSRGa cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21175722 CVCL_EG57 INS-1 832/1 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21175723 CVCL_EG56 INS-1 832/2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21175789 CVCL_4620 ELT6 cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175793 CVCL_4623 H4-II cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21175797 CVCL_4621 ELT9 cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175811 CVCL_4630 35 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21175857 CVCL_4617 ELT4 cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175859 CVCL_4616 ELT3 cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175861 CVCL_4615 ELT10 cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175865 CVCL_4619 ELT5B cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175867 CVCL_4618 ELT5A cell line DOID:127 leiomyoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60426 21175948 CVCL_4681 PC12D cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21176798 CVCL_4007 SGS cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21176799 CVCL_4006 RT4-D6P2T cell line DOID:3192 neurilemmoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60465 21176850 CVCL_W631 YROS-2 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21176887 CVCL_W630 YROS-1 cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21177334 CVCL_4106 ARL-6 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21177374 CVCL_4113 B65 cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21177376 CVCL_4112 B50 cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21177378 CVCL_4111 B12 cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21177386 CVCL_4115 B92 cell line DOID:769 neuroblastoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121567 21177483 CVCL_4098 A15 [Rat glioma] cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21177967 CVCL_4212 H5 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21177969 CVCL_4211 H4S cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21178068 CVCL_4167 DSL-6B/C2 cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21178070 CVCL_4166 DSL-6A/C1 cell line DOID:9004351 Digestive System Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60682 21178106 CVCL_4153 CRI-G5 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21178108 CVCL_4152 CRI-D2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21178110 CVCL_4151 CRI-D11 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21179551 CVCL_F248 2211 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21179568 CVCL_F242 JM1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21179896 CVCL_4775 Faza 967 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21179942 CVCL_4722 Faof1C2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 2118 Anxa1 annexin A1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730873 D RGD:7421537|PMID:22323911 20131120 RGD protein:decreased expression:mammary gland 2118 Anxa1 annexin A1 gene DOID:0060180 colitis IEP D RGD:2306920|PMID:10489933 20090512 RGD protein:increased expression:colon, neutrophil 2118 Anxa1 annexin A1 gene DOID:0080600 COVID-19 ISO RGD:730873 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2118 Anxa1 annexin A1 gene DOID:10140 dry eye syndrome ISO RGD:730873 D RGD:7421553|PMID:23201116 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:10247 pleurisy IDA D RGD:2306907|PMID:15784654 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:10534 stomach cancer IEP D RGD:7421587|PMID:23236538 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:10763 hypertension IEP D RGD:1599668|PMID:16109804 20090512 RGD protein:altered localization:vascular associated smooth muscle cell 2118 Anxa1 annexin A1 gene DOID:10763 hypertension ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2118 Anxa1 annexin A1 gene DOID:12849 autistic disorder ISO RGD:730873 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Autism 2118 Anxa1 annexin A1 gene DOID:13141 uveitis IEP D RGD:7421539|PMID:21633711 20131120 RGD 2118 Anxa1 annexin A1 gene DOID:13141 uveitis ISO RGD:10164 D RGD:7421538|PMID:23645879 20131120 RGD 2118 Anxa1 annexin A1 gene DOID:13141 uveitis treatment IDA D RGD:7421538|PMID:23645879 20131120 RGD 2118 Anxa1 annexin A1 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:730873 D RGD:7421559|PMID:20970165 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:1459 hypothyroidism IEP D RGD:2306952|PMID:9022675 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2118 Anxa1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:7421562|PMID:8919037 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:2325722|PMID:19173988 20100607 RGD 2118 Anxa1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:2325723|PMID:17974280 20100607 RGD protein:increased expression:pancreas 2118 Anxa1 annexin A1 gene DOID:2316 brain ischemia IMP D RGD:7421662|PMID:1830327 20131126 RGD 2118 Anxa1 annexin A1 gene DOID:2316 brain ischemia treatment ISO RGD:730873 D RGD:7421662|PMID:1830327 20131126 RGD 2118 Anxa1 annexin A1 gene DOID:2671 transitional cell carcinoma severity IEP D RGD:2306889|PMID:17994624 20090512 RGD mRNA, protein:increased expression:urinary bladder 2118 Anxa1 annexin A1 gene DOID:2734 keratosis follicularis ISO RGD:730873 D RGD:7421562|PMID:8919037 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:2773 contact dermatitis ISO RGD:10164 D RGD:7421573|PMID:23267026 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:2841 asthma ISO RGD:10164 D RGD:7421657|PMID:22092555 20131126 RGD 2118 Anxa1 annexin A1 gene DOID:3008 invasive ductal carcinoma ISO RGD:730873 D RGD:7421535|PMID:18776816 20131120 RGD 2118 Anxa1 annexin A1 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:730873 D RGD:7421560|PMID:19171478 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:3021 acute kidney failure treatment IDA D RGD:7421583|PMID:22101490 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:305 carcinoma ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 2118 Anxa1 annexin A1 gene DOID:3069 malignant astrocytoma ISO RGD:730873 D RGD:7421564|PMID:20133820 20131121 RGD associated with Tuberous Sclerosis;mRNA:increased expression:brain 2118 Anxa1 annexin A1 gene DOID:326 ischemia IEP D RGD:2306896|PMID:17653046 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:3526 cerebral infarction treatment IEP D RGD:7483559|PMID:22617647 20131127 RGD associated with Ischemic Attack, Transient 2118 Anxa1 annexin A1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730873 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2118 Anxa1 annexin A1 gene DOID:3770 pulmonary fibrosis IEP D RGD:2306948|PMID:9269316 20090512 RGD protein:decreased expression:lung 2118 Anxa1 annexin A1 gene DOID:3910 lung adenocarcinoma ISO RGD:730873 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 2118 Anxa1 annexin A1 gene DOID:4450 renal cell carcinoma IEP D RGD:7421570|PMID:14587099 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:557 kidney disease ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20484890 2118 Anxa1 annexin A1 gene DOID:630 genetic disease ISO RGD:730873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2118 Anxa1 annexin A1 gene DOID:6498 seborrheic keratosis ISO RGD:730873 D RGD:7421562|PMID:8919037 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:76 stomach disease ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15472012 2118 Anxa1 annexin A1 gene DOID:7998 hyperthyroidism IEP D RGD:2306952|PMID:9022675 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:83 cataract IEP D RGD:7421566|PMID:1385581 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:83 cataract ISO RGD:10164 D RGD:7421556|PMID:19003866 20131121 RGD DNA, protein:polymorphism: :p.R212I (mouse) 2118 Anxa1 annexin A1 gene DOID:8893 psoriasis ISO RGD:730873 D RGD:7421562|PMID:8919037 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053688|PMID:15248295 20150720 RGD mRNA,protein:increased expression:neuron,glial cell 2118 Anxa1 annexin A1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730873 D RGD:2306891|PMID:17917587 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 2118 Anxa1 annexin A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:22248470 2118 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:2306939|PMID:9514092 20090512 RGD associated with Mammary Neoplasms, Experimental;protein:increased expression:lung 2118 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:7421563|PMID:20308542 20131121 RGD associated with Mammary Neoplasms, Experimental 2118 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10164 D RGD:7421541|PMID:20821804 20131120 RGD associated with Mammary Neoplasms, Experimental 2118 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20308542 2118 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730873 D RGD:7421541|PMID:20821804 20131120 RGD associated with Mammary Neoplasms, Experimental 2118 Anxa1 annexin A1 gene DOID:9001472 Nasal Polyps ISO RGD:730873 D RGD:7421567|PMID:20549082 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2306954|PMID:8755646 20090512 RGD mRNA:increased expression:liver 2118 Anxa1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2118 Anxa1 annexin A1 gene DOID:9002211 Hyperalgesia IEP D RGD:7421656|PMID:21990306 20131126 RGD protein:increased expression:dorsal root ganglion 2118 Anxa1 annexin A1 gene DOID:9002211 Hyperalgesia IMP D RGD:2306950|PMID:9222544 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 2118 Anxa1 annexin A1 gene DOID:9002457 Experimental Arthritis IMP D RGD:2306928|PMID:10403283 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:10164 D RGD:7421573|PMID:23267026 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10164 D RGD:7421573|PMID:23267026 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:2306905|PMID:16034371 20090512 RGD mRNA:increased expression:brain 2118 Anxa1 annexin A1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2306942|PMID:9472682 20090512 RGD protein:increased expression:brain, astrocyte, macrophage 2118 Anxa1 annexin A1 gene DOID:9004464 Skin Neoplasms ISO RGD:10164 D RGD:7421558|PMID:22782996 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 2118 Anxa1 annexin A1 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10164 D RGD:7421536|PMID:22740770 20131120 RGD 2118 Anxa1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20090512 RGD 2118 Anxa1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 2118 Anxa1 annexin A1 gene DOID:9005372 Inflammation IEP D RGD:7421660|PMID:11005211 20131126 RGD protein:increased expression:mast cell granule, cytoplasm 2118 Anxa1 annexin A1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306888|PMID:11423489 20090511 RGD protein:increased glycation:respiratory system blood vessel endothelium 2118 Anxa1 annexin A1 gene DOID:9005941 Rhinosinusitis ISO RGD:730873 D RGD:7421555|PMID:22279949 20131121 RGD associated with Nasal Polyps 2118 Anxa1 annexin A1 gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:7421585|PMID:20953576 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:2306914|PMID:10603033 20090512 RGD protein:increased expression:sciatic nerve 2118 Anxa1 annexin A1 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:730873 D RGD:7421565|PMID:20701627 20131121 RGD 2118 Anxa1 annexin A1 gene DOID:9007364 Mouth Neoplasms ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2118 Anxa1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2306910|PMID:11641252 20090512 RGD protein:increased expression:heart, leukocyte 2118 Anxa1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10164 D RGD:7421655|PMID:22924634 20131126 RGD 2118 Anxa1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730873 D RGD:7421655|PMID:22924634 20131126 RGD 2118 Anxa1 annexin A1 gene DOID:9008110 Blister ISO RGD:730873 D RGD:7421575|PMID:10331485 20131121 RGD associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell 2118 Anxa1 annexin A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17405164 2118 Anxa1 annexin A1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730873 D RGD:7421540|PMID:20353277 20131120 RGD 2118 Anxa1 annexin A1 gene DOID:9588 encephalitis ISO RGD:10164 D RGD:7421580|PMID:22964301 20131121 RGD associated with Sepsis 21181012 CVCL_4925 PC12K cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21181049 CVCL_4908 FRIWT-8 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21181941 CVCL_F738 SGS/3A cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182437 CVCL_F859 RNK-4 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182439 CVCL_F858 RNK-6 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182441 CVCL_F853 RNK-8 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182443 CVCL_F852 RNK-11 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182449 CVCL_F857 RNK-10 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182451 CVCL_F856 RNK-1 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182453 CVCL_F855 RNK-7 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182455 CVCL_F854 RNK-0 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182465 CVCL_F861 RNK-9 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182475 CVCL_F860 RNK-5 cell line DOID:0050751 T-cell large granular lymphocyte leukemia IEA D RGD:21410187 20220406 CELLOSAURUS NCI:C64066 21182553 CVCL_WL68 HTC-M1 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182591 CVCL_WL46 HITS glioma cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21182685 CVCL_F959 K-231 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182693 CVCL_F951 5L cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182705 CVCL_F969 AH60C-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182707 CVCL_F968 AH44-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182709 CVCL_F963 AH13-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182717 CVCL_F967 AH34-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182721 CVCL_F965 AH13/NMO-R-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182723 CVCL_F964 AH13/6MP-R-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182731 CVCL_F935 LY-80-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182735 CVCL_F930 LY-336-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182737 CVCL_F934 LY-7-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182739 CVCL_F933 LY-54-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182741 CVCL_F932 LY-52-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182743 CVCL_F931 LY-5-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182773 CVCL_F919 DBLA-10-TC cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21182775 CVCL_F918 DBLA-1 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21182777 CVCL_F917 AMC-60-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182801 CVCL_F921 DBLA-9-TC cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21182803 CVCL_F920 DBLA-6-TC cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21182885 CVCL_F996 AH414-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182887 CVCL_F995 AH143A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182889 CVCL_F994 AH602-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182894 CVCL_F998 AH61B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182896 CVCL_F997 AH63F-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182901 CVCL_F992 AH3683-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182904 CVCL_F991 AH3924A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182907 CVCL_F990 AH7974F-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182924 CVCL_F979 AH108A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182934 CVCL_F978 AH107B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182936 CVCL_F977 AH100B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182947 CVCL_F970 AH62-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182954 CVCL_F985 AH131B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182956 CVCL_F984 AH131A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182958 CVCL_F983 AH150A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182960 CVCL_F982 AH130FG-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182962 CVCL_F989 AH7974-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182964 CVCL_F988 AS-D-653-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21182966 CVCL_F987 AH130FN II-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182968 CVCL_F986 AH136B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182974 CVCL_F981 AH109A-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21182977 CVCL_F980 AH108AF-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21184517 CVCL_WH61 GRINCH cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 21184823 CVCL_WI39 Culb-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21184952 CVCL_WI79 JTC-15 AC-5 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21184953 CVCL_WI78 JTC-15 AC-4 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21184954 CVCL_WI77 JTC-2 Co-2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21184991 CVCL_WI56 C58(NT)D cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60448 21185124 CVCL_F659 PC-12 Adh cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21185137 CVCL_F665 1682A cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21185622 CVCL_X359 H5D.61 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21185624 CVCL_X358 H4AzC2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21185645 CVCL_X360 H5D.7 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21186845 CVCL_WV01 NT-27a cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21186847 CVCL_WV00 NT-27 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21186878 CVCL_WU98 CL-50 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21186916 CVCL_WU97 CL-49 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21188094 CVCL_X150 BT4A cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188597 CVCL_5683 AH130FN-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21188640 CVCL_4U61 AH1091B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21188643 CVCL_4U60 YS-TM-R-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188645 CVCL_4U54 Yoshida sarcoma cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188647 CVCL_4U53 AH130/5A cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21188652 CVCL_5658 C6/lacZ7 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188653 CVCL_4U58 YS-G-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188654 CVCL_5657 C6/lacZ cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188655 CVCL_4U57 YS-EX-R-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188656 CVCL_5656 9L/lacZ cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188657 CVCL_4U56 YS-DM-R-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188659 CVCL_4U55 YS-6MP-R-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188661 CVCL_4U59 YS-MC-R-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188675 CVCL_4U62 YS-5Fu-R-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21188691 CVCL_5636 TaD-1-3 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21188693 CVCL_5635 TaD-1 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21188703 CVCL_5637 TaD-1-8 cell line DOID:3284 thymic carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60470 21188838 CVCL_4V35 C6/ACNU cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188840 CVCL_4V34 9L/ACNU cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188874 CVCL_5713 BT5C cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188876 CVCL_5712 BT4C cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21188943 CVCL_5799 MH-3924A cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21188986 CVCL_5787 L-5222 cell line DOID:1240 leukemia IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60428 21189135 CVCL_5851 OS1-CLS cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21189211 CVCL_5847 O-342 cell line DOID:3713 ovary adenocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C129858 21189257 CVCL_5800 MH-TC-5123 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 2119 Anxa3 annexin A3 gene DOID:1686 glaucoma IEP D RGD:2289160|PMID:18055803 20131121 RGD mRNA:increased expression:retina 2119 Anxa3 annexin A3 gene DOID:630 genetic disease ISO RGD:735865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2119 Anxa3 annexin A3 gene DOID:7148 rheumatoid arthritis ISO RGD:735865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 2119 Anxa3 annexin A3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2119 Anxa3 annexin A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2119 Anxa3 annexin A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2119 Anxa3 annexin A3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21435174 2119 Anxa3 annexin A3 gene DOID:9074 systemic lupus erythematosus ISO RGD:735865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 21190048 CVCL_5141 K-251 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21190186 CVCL_5125 Fu5-5 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21190188 CVCL_5124 FTO-2B cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21190190 CVCL_5123 FT-2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21190307 CVCL_X985 AB.11 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21190309 CVCL_X984 A208-7 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21190322 CVCL_5335 Morris 5123D-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21190332 CVCL_5338 MT-9 cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21190334 CVCL_5337 MT-8 cell line DOID:1907 malignant fibrous histiocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60442 21190336 CVCL_5336 MSK-C5.8G cell line DOID:3347 osteosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60487 21190383 CVCL_X983 A208-4 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21190468 CVCL_5327 LY-6-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21190522 CVCL_5302 KMY-1 cell line DOID:9005493 Anaplastic Meningioma IEA D RGD:21410187 20221214 CELLOSAURUS NCI:C124250 21190530 CVCL_5305 KMY-J cell line DOID:9005493 Anaplastic Meningioma IEA D RGD:21410187 20221214 CELLOSAURUS NCI:C124250 21190532 CVCL_5304 KMY-3 cell line DOID:9005493 Anaplastic Meningioma IEA D RGD:21410187 20221214 CELLOSAURUS NCI:C124250 21190534 CVCL_5303 KMY-2 cell line DOID:9005493 Anaplastic Meningioma IEA D RGD:21410187 20221214 CELLOSAURUS NCI:C124250 21190543 CVCL_WX20 GH4T2 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C132194 21190614 CVCL_5291 HS-P cell line DOID:0080915 histiocytic sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60419 21190663 CVCL_5276 CNS-1 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21190693 CVCL_5241 AH272-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21191190 CVCL_5367 SS-A3-1 cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60403 21191369 CVCL_5574 PC-12TG cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21191410 CVCL_5559 MS-653-G cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60403 21191412 CVCL_5558 MS-653-A cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60403 21191425 CVCL_5573 PC12.P3 cell line DOID:0050892 adrenal gland pheochromocytoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121568 21191853 CVCL_G285 AH99-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21191855 CVCL_G284 AH70B-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21192033 CVCL_G369 AH21-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21192035 CVCL_G368 AH13/MMC-R-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21192043 CVCL_G360 AH66F-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21192062 CVCL_G370 QT-1-TC cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 21192075 CVCL_G349 CARM-L1 TG3 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21192088 CVCL_G359 YS-TC cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21192095 CVCL_G351 Me11-TG6 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21192097 CVCL_G350 CARM-L12 TG3 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21192099 CVCL_G355 CARM-L11 TG3 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21192101 CVCL_G354 Me9-TG3 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21192103 CVCL_G353 Me19-TG2 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21192105 CVCL_G352 Me17-TG6 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60453 21194162 CVCL_5G92 RSS18 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21194552 CVCL_5H90 C6TK- cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21195052 CVCL_Y001 1A2 [Rat glioma] cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21195061 CVCL_Y002 A15A10 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 21195195 CVCL_5J47 O-342/DDP cell line DOID:3713 ovary adenocarcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C129858 21196523 CVCL_G706 Nb2-SP cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60448 21196525 CVCL_G705 Nb2 cell line DOID:0060058 lymphoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60448 21197850 CVCL_6018 Shay cell line DOID:1115 sarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60505 21199578 CVCL_6336 C6-SF2 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 2120 Anxa5 annexin A5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:734268 D RGD:7242031|PMID:17999093 20130321 RGD protein:increased expression:urine 2120 Anxa5 annexin A5 gene DOID:0080600 COVID-19 ISO RGD:734268 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2120 Anxa5 annexin A5 gene DOID:10591 pre-eclampsia ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19837457 2120 Anxa5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734268 D RGD:7242030|PMID:20648654 20130321 RGD protein:increased expression: plasma 2120 Anxa5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734269 D RGD:7242030|PMID:20648654 20130321 RGD protein:increased expression:brain, plasma 2120 Anxa5 annexin A5 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:734268 D RGD:6478714|PMID:19684010 20150721 RGD mRNA:increased expression:white blood cell: 2120 Anxa5 annexin A5 gene DOID:11383 cryptorchidism IEP D RGD:10053693|PMID:19376566 20150720 RGD protein:increased expression: seminiferous tubulle 2120 Anxa5 annexin A5 gene DOID:12217 Lewy body dementia ISO RGD:734268 D RGD:10053729|PMID:23576984 20150721 RGD protein:increased expression: plasma 2120 Anxa5 annexin A5 gene DOID:14330 Parkinson's disease ISO RGD:734268 D RGD:10053728|PMID:10584677 20150721 RGD protein:decreased expression:cerebrospinal fluid: 2120 Anxa5 annexin A5 gene DOID:1459 hypothyroidism IEP D RGD:2306952|PMID:9022675 20150721 RGD protein:increased expression:thyroid gland: 2120 Anxa5 annexin A5 gene DOID:1749 squamous cell carcinoma ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2120 Anxa5 annexin A5 gene DOID:2921 glomerulonephritis IEP D RGD:7241853|PMID:11271515 20130319 RGD 2120 Anxa5 annexin A5 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734268 D RGD:2317538|PMID:19488907 20100408 RGD protein:increased expression:pancreas 2120 Anxa5 annexin A5 gene DOID:3910 lung adenocarcinoma ISO RGD:734268 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 2120 Anxa5 annexin A5 gene DOID:418 systemic scleroderma severity ISO RGD:734268 D RGD:7242029|PMID:21124692 20130321 RGD 2120 Anxa5 annexin A5 gene DOID:438 autoimmune disease of the nervous system ISO RGD:734268 D RGD:10053691|PMID:15486486 20150720 RGD 2120 Anxa5 annexin A5 gene DOID:5844 myocardial infarction IEP D RGD:2317541|PMID:16501019 20100408 RGD protein:altered localization:cardiac muscle cell, sarcolemma 2120 Anxa5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:734268 D RGD:2317543|PMID:8814351 20100408 RGD protein:increased expression:plasma 2120 Anxa5 annexin A5 gene DOID:5844 myocardial infarction no_association ISO RGD:734268 D RGD:1578384|PMID:16025836 19990101 RGD DNA:polymorphism: :-1C>T (human) 2120 Anxa5 annexin A5 gene DOID:5844 myocardial infarction susceptibility ISO RGD:734268 D RGD:2317542|PMID:12200370 20100408 RGD DNA:polymorphism: :-1C>T (human) 2120 Anxa5 annexin A5 gene DOID:630 genetic disease ISO RGD:734268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2120 Anxa5 annexin A5 gene DOID:7998 hyperthyroidism IEP D RGD:2306952|PMID:9022675 20150721 RGD protein:decreased expression:thyroid gland: 2120 Anxa5 annexin A5 gene DOID:893 Wilson disease IEP D RGD:10053726|PMID:21751376 20150721 RGD protein:increased expression:liver: 2120 Anxa5 annexin A5 gene DOID:893 Wilson disease ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751376 2120 Anxa5 annexin A5 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053688|PMID:15248295 20150720 RGD mRNA,protein:increased expression:neuron,glial cell 2120 Anxa5 annexin A5 gene DOID:9000217 Stomach Neoplasms ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2120 Anxa5 annexin A5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2120 Anxa5 annexin A5 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:734268 D RGD:10053727|PMID:10903884 20150721 RGD protein:increased expression:chondrocyte: 2120 Anxa5 annexin A5 gene DOID:9003936 Cardiomegaly IEP D RGD:10053694|PMID:10603972 20150720 RGD mRNA:increased expression:heart: 2120 Anxa5 annexin A5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:734268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 2120 Anxa5 annexin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734268 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2120 Anxa5 annexin A5 gene DOID:9004657 Weight Gain ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2120 Anxa5 annexin A5 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734268 D RGD:7242028|PMID:21918686 20130321 RGD 2120 Anxa5 annexin A5 gene DOID:9007102 Myocardial Ischemia IEP D RGD:7241858|PMID:8056721 20130319 RGD 2120 Anxa5 annexin A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2120 Anxa5 annexin A5 gene DOID:9007479 Habitual Abortions ISO RGD:734268 D RGD:11554173 20230426 CTD CTD Direct Evidence: marker/mechanism 2120 Anxa5 annexin A5 gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:734268 D RGD:7240710 20230505 OMIM 2120 Anxa5 annexin A5 gene DOID:9007820 Sudden Death no_association ISO RGD:734268 D RGD:1578384|PMID:16025836 19990101 RGD DNA:polymorphism: :-1C>T (human) 2120 Anxa5 annexin A5 gene DOID:9119 acute myeloid leukemia ISO RGD:734268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349313 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349313 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349313 D RGD:10054036|PMID:10723070 20150722 RGD mRNA:altered expression:brain: 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1349313 D RGD:10054028|PMID:11099823 20150722 RGD DNA:polymorphism:intron: 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:10054031|PMID:12727304 20150722 RGD DNA:deletion:intron: 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:2301212|PMID:9799084 20080930 RGD DNA:mutations::multiple 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349313 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:630 genetic disease ISO RGD:1349313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:9000998 Brain Injuries IEP D RGD:2301208|PMID:12707777 20080930 RGD mRNA:increased expression:brain 2122 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:9001310 Tobacco Use Disorder susceptibility ISO RGD:1349313 D RGD:10054043|PMID:18777128 20150723 RGD DNA:SNPs,haplotype:multiple: 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis IMP D RGD:1601201|PMID:17360473 20120620 RGD DNA:point mutation:CDS:p.K1137X (3409A>T) (rat) 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:8071957|PMID:11040535|PMID:11420398|PMID:11588890|PMID:11766074|PMID:12394442|PMID:17942926|PMID:18704758|PMID:25200834|PMID:25280562|PMID:28414304 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:1331525|PMID:15118671 19990101 GAD 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:2293188|PMID:18432252 20080520 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10612827|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12581900|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17568392|PMID:17576681|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28873162|PMID:29029407|PMID:29122597|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29987844|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30374176 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:30426508|PMID:30487145|PMID:30613976|PMID:30680046|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31054147|PMID:31113927|PMID:31159747|PMID:31285513|PMID:31428572|PMID:31444830|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7562975|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9342373|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34479915|PMID:35142982|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050589 inflammatory bowel disease ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050860 colorectal adenoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal adenoma PMID:10811618|PMID:11257105|PMID:11823972|PMID:11904335|PMID:16454848|PMID:18199528|PMID:18844223|PMID:20233475|PMID:21859464|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23292937|PMID:23970361|PMID:24033266|PMID:24055113|PMID:2472832|PMID:24728327|PMID:24861525|PMID:25178641|PMID:25203624|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26416840|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27535533|PMID:27600092|PMID:28259476|PMID:28301460|PMID:28492532|PMID:28503720|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29684080|PMID:30122538|PMID:30256826|PMID:31159747|PMID:33503190|PMID:34250417|PMID:34301788|PMID:35128723 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 2123 Apc APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:6484523|PMID:17238184 20120621 RGD associated with Adenomatous Polyposis Coli;DNA:mutations: : 2123 Apc APC regulator of WNT signaling pathway gene DOID:0060041 autism spectrum disorder ISO RGD:736624 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2123 Apc APC regulator of WNT signaling pathway gene DOID:0080366 desmoid tumor ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desmoid tumor PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:23757202|PMID:25741868|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584 2123 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:7240710 20190227 OMIM 2123 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10454823|PMID:10470088|PMID:10494086|PMID:10562580|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11145293|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11896079|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12136240|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14672538|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15095859|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:16088911|PMID:16110024|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:16736293|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:18406876|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18982352|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19763152|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20307669|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:2068568|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21315632|PMID:21476993|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:21646762|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22406018|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23585368|PMID:23700467|PMID:23709753|PMID:23715166 2123 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:23725351|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:24763289|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:24946964|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159889|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25243319|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25640679|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26787237|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27217144|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27347161|PMID:27354939|PMID:27391059|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30272267|PMID:30274973 2123 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7797123|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:7981688|PMID:8019566|PMID:8103406|PMID:8111410|PMID:8111416|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8733048|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9843214|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:7240710 20130221 OMIM 2123 Apc APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10077730|PMID:10083733|PMID:10094547|PMID:10470088|PMID:10713886|PMID:10768871|PMID:10782927|PMID:11741105|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14523376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15857185|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16292097|PMID:16317745|PMID:16461775|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17963004|PMID:18155426|PMID:18199528|PMID:18433509|PMID:19029688|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22431159|PMID:22447671|PMID:22703879|PMID:22864938|PMID:23159591|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24448499|PMID:24573554|PMID:24599579|PMID:24728327|PMID:24735542|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26300997|PMID:26320869|PMID:26332594|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28492532|PMID:28526081|PMID:28608266|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29122597|PMID:29212164|PMID:29367705|PMID:29641532|PMID:29684080|PMID:29915797|PMID:29945567|PMID:30267214|PMID:30374176|PMID:30613976|PMID:30897307|PMID:31054147|PMID:31069152|PMID:31159747|PMID:31278746|PMID:31422818|PMID:31428572|PMID:31942411|PMID:32658311|PMID:33279946|PMID:33309985|PMID:33352971|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7661930|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8730280|PMID:8844222|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9342373|PMID:9536098|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9824584|PMID:9950360 2123 Apc APC regulator of WNT signaling pathway gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 2123 Apc APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISS RGD:10166 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 2123 Apc APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer disease_progression ISO RGD:736624 D RGD:151665170|PMID:16322291 20220315 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:7240710 20220209 OMIM 2123 Apc APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10094547|PMID:11247896|PMID:11754114|PMID:12007223|PMID:12034871|PMID:12357334|PMID:1316610|PMID:1317264|PMID:1324223|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16461775|PMID:17293347|PMID:17963004|PMID:18433509|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:22135120|PMID:23159591|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26613750|PMID:26681312|PMID:26845104|PMID:27081525|PMID:28152038|PMID:28492532|PMID:29754767|PMID:30256826|PMID:30287922|PMID:30897307|PMID:31285513|PMID:31942411|PMID:36988593|PMID:8381579|PMID:9824584 2123 Apc APC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 2123 Apc APC regulator of WNT signaling pathway gene DOID:10652 Alzheimer's disease ISO RGD:736624 D RGD:6484525|PMID:11547943 20120621 RGD protein:increased expression:astrocyte 2123 Apc APC regulator of WNT signaling pathway gene DOID:10816 duodenum adenocarcinoma ISO RGD:736624 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Duodenal adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 2123 Apc APC regulator of WNT signaling pathway gene DOID:11394 adult respiratory distress syndrome ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2123 Apc APC regulator of WNT signaling pathway gene DOID:1168 familial hyperlipidemia ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17546600 2123 Apc APC regulator of WNT signaling pathway gene DOID:12192 sigmoid colon cancer ISO RGD:736624 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8071957|PMID:17221838 2123 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer ISO RGD:736624 D RGD:13673917|PMID:15951972 20180706 RGD protein:increased expression:endometrium (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:10166 D RGD:13524585|PMID:23288720 20180424 RGD with Pten knockout 2123 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:736624 D RGD:13673916|PMID:29876005 20180706 RGD DNA:mutations, haplotype:cds:multiple (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer treatment ISO RGD:736624 D RGD:13524624|PMID:22907428 20180425 RGD human cells in a mouse model 2123 Apc APC regulator of WNT signaling pathway gene DOID:13938 amenorrhea ISO RGD:736624 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 2123 Apc APC regulator of WNT signaling pathway gene DOID:14566 disease of cellular proliferation ISO RGD:736624 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 2123 Apc APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10830991|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11823972|PMID:11852337|PMID:11960572|PMID:12007223|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15857185|PMID:15929773|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16680592|PMID:16875934|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18393237|PMID:18433509|PMID:18770064|PMID:18794146|PMID:18948947|PMID:19029688|PMID:19196998|PMID:19336753|PMID:19347965|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21653199|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21970370|PMID:21995949|PMID:22135120|PMID:22150579|PMID:22431159|PMID:22585170|PMID:22703879|PMID:2281069|PMID:22810696|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23204322|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23715166|PMID:23846443|PMID:23896379|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24518971|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24750145|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25257991|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25722345|PMID:25741868|PMID:25778705|PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26511139|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26819281|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27156442|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27705013|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28185118|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28301460|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28528518|PMID:28533537|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28944238|PMID:29122597|PMID:29367705|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29901124|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31062380|PMID:31069152|PMID:31159747|PMID:31175917|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32543227|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384 2123 Apc APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33352971|PMID:33503190|PMID:33875564|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7959691|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8941012|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:1612 breast cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:1612 breast cancer ISS RGD:10166 D RGD:13592920 20180518 MouseDO OMIM:114480 2123 Apc APC regulator of WNT signaling pathway gene DOID:1749 squamous cell carcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2123 Apc APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:10166 D RGD:2317207|PMID:7478622 20100319 RGD DNA:mutation, loss of heterozygosity 2123 Apc APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:736624 D RGD:2317208|PMID:1423316 20100319 RGD DNA:deletions (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:1896 sigmoid neoplasm ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8071957|PMID:11766074 2123 Apc APC regulator of WNT signaling pathway gene DOID:1996 rectum adenocarcinoma ISO RGD:736624 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Rectum adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 2123 Apc APC regulator of WNT signaling pathway gene DOID:218 ascending colon cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:25741868|PMID:28492532|PMID:30093976 2123 Apc APC regulator of WNT signaling pathway gene DOID:219 colon cancer IAGP D RGD:12792250|PMID:19694754 20170411 RGD DNA:nonsense mutation:cds: c. 7621C > A (p.S2523X) (rat) 2123 Apc APC regulator of WNT signaling pathway gene DOID:219 colon cancer ISO RGD:736624 D RGD:8554872 20201215 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:22675565|PMID:25741868|PMID:26692440|PMID:26837502|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:234 colon adenocarcinoma IMP D RGD:1601201|PMID:17360473 20180403 RGD associated with Adenomatous Polyposis Coli;DNA:point mutation:CDS:p.K1137X (3409A>T) (rat) 2123 Apc APC regulator of WNT signaling pathway gene DOID:234 colon adenocarcinoma ISO RGD:736624 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:27978560|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:2355 anemia IMP D RGD:1601201|PMID:17360473 20201210 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:2361 macrocytic anemia ISO RGD:736624 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 2123 Apc APC regulator of WNT signaling pathway gene DOID:2394 ovarian cancer ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18199528|PMID:19307944|PMID:21859464|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26467025|PMID:26530882|PMID:27121310|PMID:28195569|PMID:28492532|PMID:28744403|PMID:28944238|PMID:29684080|PMID:30256826|PMID:31062380|PMID:33193653|PMID:34250417 2123 Apc APC regulator of WNT signaling pathway gene DOID:2394 ovarian cancer ISS RGD:10166 D RGD:13592920 20180518 MouseDO OMIM:167000 | OMIM:607893 2123 Apc APC regulator of WNT signaling pathway gene DOID:2671 transitional cell carcinoma ISO RGD:736624 D RGD:7242057|PMID:21599969 20130326 RGD DNA:methylation: : 2123 Apc APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma ISO RGD:10166 D RGD:13525011|PMID:21363919 20180507 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532|PMID:32885271 2123 Apc APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma onset ISO RGD:736624 D RGD:13524625|PMID:19900189 20180425 RGD DNA:hypermethylation:promoter: (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9111214|PMID:15639718 2123 Apc APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:2317202|PMID:11677205 20100319 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:3025 acinar cell carcinoma ISO RGD:736624 D RGD:2317200|PMID:11891193 20100319 RGD DNA:mutations (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:3068 glioblastoma ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 2123 Apc APC regulator of WNT signaling pathway gene DOID:3121 gallbladder cancer disease_progression ISO RGD:736624 D RGD:151356500|PMID:26715268 20220208 RGD DNA:SNP::rs11954856(human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:3459 breast carcinoma ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:3840 craniopharyngioma ISO RGD:736624 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10083733|PMID:11247896|PMID:12172928|PMID:12486240|PMID:1316610|PMID:15311282|PMID:15771908|PMID:16088911|PMID:17293347|PMID:18794146|PMID:19029688|PMID:20649969|PMID:20924072|PMID:22135120|PMID:23159591|PMID:25590978|PMID:25741868|PMID:26446593|PMID:26467025|PMID:26625971|PMID:26840078|PMID:27081525|PMID:28492532|PMID:8162022|PMID:8381579|PMID:8381581|PMID:8395941|PMID:9824584 2123 Apc APC regulator of WNT signaling pathway gene DOID:3883 Lynch syndrome ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 2123 Apc APC regulator of WNT signaling pathway gene DOID:3908 lung non-small cell carcinoma ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 2123 Apc APC regulator of WNT signaling pathway gene DOID:3910 lung adenocarcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10646887|PMID:1316610|PMID:1338764|PMID:15311282|PMID:16134147|PMID:17293347|PMID:18433509|PMID:18948947|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22987206|PMID:23700467|PMID:25157968|PMID:25741868|PMID:27081525|PMID:27993330|PMID:28492532|PMID:8187091|PMID:8381579|PMID:9824584 2123 Apc APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736624 D RGD:7242060|PMID:10426194 20130326 RGD DNA,protein:LOH,decreased expression: : 2123 Apc APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma onset ISO RGD:10166 D RGD:7242056|PMID:16116480 20130326 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma severity ISO RGD:736624 D RGD:7242059|PMID:15203750 20130326 RGD DNA:LOH: : 2123 Apc APC regulator of WNT signaling pathway gene DOID:4927 Klatskin's tumor ISO RGD:736624 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Klatskin tumor PMID:25741868|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703 2123 Apc APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:2317198|PMID:15467712 20100319 RGD DNA:hypermethylation:promoter 2123 Apc APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:2317205|PMID:10212000 20100319 RGD DNA:loss of heterozygosity 2123 Apc APC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:9111214|PMID:10383901|PMID:12034317|PMID:19092804|PMID:30188895 2123 Apc APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:2317202|PMID:11677205 20100319 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:14402050|PMID:28203651 20190528 RGD DNA:hypermethylation 2123 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:7240710 20130221 OMIM 2123 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:8381579|PMID:9824584 2123 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703|PMID:8381579|PMID:9824584 2123 Apc APC regulator of WNT signaling pathway gene DOID:687 hepatoblastoma ISO RGD:736624 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:8764128 2123 Apc APC regulator of WNT signaling pathway gene DOID:9000011 Gallbladder Neoplasms ISO RGD:736624 D RGD:2317199|PMID:15447999 20100319 RGD DNA:hypermethylation:promoter 2123 Apc APC regulator of WNT signaling pathway gene DOID:9000217 Stomach Neoplasms ISO RGD:736624 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism 2123 Apc APC regulator of WNT signaling pathway gene DOID:9000217 Stomach Neoplasms ISO RGD:736624 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25741868|PMID:26467025|PMID:26900293|PMID:26976419|PMID:28380452|PMID:28492532|PMID:29237405|PMID:32658311 2123 Apc APC regulator of WNT signaling pathway gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9111214 2123 Apc APC regulator of WNT signaling pathway gene DOID:9001039 Leukocytosis ISO RGD:736624 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 2123 Apc APC regulator of WNT signaling pathway gene DOID:9001441 Adenomatous Polyps ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 2123 Apc APC regulator of WNT signaling pathway gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:9001642 Intestinal Polyps ISO RGD:736624 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:8561861|PMID:12189188|PMID:14991580|PMID:15063141|PMID:26262998|PMID:31715269 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002221 Hyperplasia ISO RGD:10166 D RGD:2317191|PMID:17596282 20100318 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 PMID:11317365|PMID:1316610|PMID:1324223|PMID:15108288|PMID:17963004|PMID:20223039|PMID:20685668|PMID:25741868|PMID:28492532|PMID:28944238|PMID:31062380|PMID:7661930|PMID:8990002|PMID:9950360 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms IMP D RGD:1601201|PMID:17360473 20201210 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:10166 D RGD:6484212|PMID:8090754 20120613 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:10166 D RGD:7242058|PMID:16959882 20130326 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:736624 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:9111214|PMID:14706516|PMID:16962818|PMID:19092804|PMID:26335331|PMID:27840820 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002304 Prostatic Neoplasms ISO RGD:736624 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002720 Splenomegaly ISO RGD:736624 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:7240710 20210303 OMIM 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach PMID:10083733|PMID:10094547|PMID:10713886|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12173026|PMID:1324223|PMID:15024739|PMID:15108288|PMID:16088911|PMID:16292097|PMID:16317745|PMID:17411426|PMID:18433509|PMID:1944466|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21813476|PMID:22027476|PMID:25741868|PMID:26300997|PMID:26446593|PMID:26467025|PMID:27087319|PMID:27343414|PMID:28492532|PMID:28533537|PMID:29112017|PMID:29141268|PMID:29968043|PMID:30584346|PMID:31159747|PMID:31409086|PMID:33242120|PMID:8381579|PMID:8990002|PMID:9950360 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002928 Colonic Neoplasms IMP D RGD:1601201|PMID:17360473 20201210 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002928 Colonic Neoplasms ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7846077|PMID:8608549|PMID:10383901|PMID:12034317|PMID:17192441|PMID:25200834|PMID:26335331 2123 Apc APC regulator of WNT signaling pathway gene DOID:9002928 Colonic Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:17963004|PMID:20223039|PMID:20685668|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7959691 2123 Apc APC regulator of WNT signaling pathway gene DOID:9003291 Aggressive Fibromatosis ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11816139 2123 Apc APC regulator of WNT signaling pathway gene DOID:9003566 Mesothelioma ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 2123 Apc APC regulator of WNT signaling pathway gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736624 D RGD:13432144|PMID:18570730 20180507 RGD DNA:hypermethylation: (human) 2123 Apc APC regulator of WNT signaling pathway gene DOID:9004271 Colonic Polyps IMP D RGD:1601201|PMID:17360473 20201210 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9004351 Digestive System Neoplasms ISO RGD:736624 D RGD:2317206|PMID:9369932 20100319 RGD DNA:missense mutation, insertion, loss of heterozygosity 2123 Apc APC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736624 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2123 Apc APC regulator of WNT signaling pathway gene DOID:9004594 Jaw Neoplasms IMP D RGD:1601201|PMID:17360473 20201210 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9005100 Aberrant Crypt Foci ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14507667 2123 Apc APC regulator of WNT signaling pathway gene DOID:9005172 Lung Neoplasms ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 2123 Apc APC regulator of WNT signaling pathway gene DOID:9006031 Abdominal Fibromatosis ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10686957 2123 Apc APC regulator of WNT signaling pathway gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:736624 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20033787|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7490101|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007188 Liver Neoplasms ISO RGD:736624 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007188 Liver Neoplasms ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of the liver PMID:16569251|PMID:18199528|PMID:21859464|PMID:22703879|PMID:23159591|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25741868|PMID:25980754|PMID:26173098|PMID:26252958|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26837502|PMID:26845104|PMID:26976419|PMID:27121310|PMID:28135048|PMID:28135145|PMID:28195569|PMID:28492532|PMID:32088909|PMID:32390703|PMID:32984025 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092804|PMID:21967605 2123 Apc APC regulator of WNT signaling pathway gene DOID:9007715 Endometrial Neoplasms ISO RGD:10166 D RGD:13524584|PMID:24474556 20180424 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008296 Eye Abnormalities ISO RGD:736624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16938888 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:12907644|PMID:17116713|PMID:18716850|PMID:19309276|PMID:21291235|PMID:21531761|PMID:21967605 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:1331525|PMID:15118671 19990101 GAD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:2293188|PMID:18432252 20080520 RGD 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10646887|PMID:10737795|PMID:12374230|PMID:12581900|PMID:12702169|PMID:1316610|PMID:1338764|PMID:1338904|PMID:14961559|PMID:15108286|PMID:15108288|PMID:1528264|PMID:15311282|PMID:16134147|PMID:1651563|PMID:17293347|PMID:17411426|PMID:17704924|PMID:17963004|PMID:18433509|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19347965|PMID:20007843|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22987206|PMID:23159591|PMID:23204322|PMID:23561487|PMID:23700467|PMID:24518971|PMID:24651453|PMID:24861525|PMID:25157968|PMID:25741868|PMID:25832318|PMID:26446593|PMID:26467025|PMID:26613750|PMID:26625971|PMID:27081525|PMID:28251689|PMID:28492532|PMID:29122597|PMID:29367705|PMID:29368261|PMID:30006736|PMID:31062380|PMID:31283021|PMID:7524601|PMID:7833931|PMID:8103406|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8941012|PMID:8990002|PMID:9494520|PMID:9824584|PMID:9950360 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008952 Breast Cancer, Familial ISO RGD:736624 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20301519|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:736624 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24430131 2123 Apc APC regulator of WNT signaling pathway gene DOID:9009045 Gardner Syndrome ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gardner syndrome PMID:10094547|PMID:10982189|PMID:11317365|PMID:11466687|PMID:12007223|PMID:12173026|PMID:1316610|PMID:14633595|PMID:15024739|PMID:15311282|PMID:16134147|PMID:16317745|PMID:1651563|PMID:17135589|PMID:17293347|PMID:17963004|PMID:18199528|PMID:18433509|PMID:20223039|PMID:20513532|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21643010|PMID:2164769|PMID:21779980|PMID:21859464|PMID:22000517|PMID:22135120|PMID:22703879|PMID:22987206|PMID:23159591|PMID:23561487|PMID:24033266|PMID:24728327|PMID:2478327|PMID:24790607|PMID:24841357|PMID:25142776|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26613750|PMID:26845104|PMID:26917275|PMID:27081525|PMID:27435373|PMID:27930734|PMID:28492532|PMID:30897307|PMID:7485167|PMID:8162051|PMID:8381579|PMID:8381580|PMID:8594558|PMID:9375853|PMID:9487968|PMID:9824584|PMID:9916927 2123 Apc APC regulator of WNT signaling pathway gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736624 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine PMID:25741868|PMID:26530882|PMID:28492532 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:7240710 20200226 OMIM 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:30152102|PMID:30267214|PMID:30426508|PMID:30487145|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31702654|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2123 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22447671|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:36988593|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 2124 Speg striated muscle enriched protein kinase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:734132 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism 2124 Speg striated muscle enriched protein kinase gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:7240710 20170329 OMIM 2124 Speg striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:25087613|PMID:25741868|PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:1148 polydactyly ISO RGD:734132 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 2124 Speg striated muscle enriched protein kinase gene DOID:422 congenital structural myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:630 genetic disease ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2124 Speg striated muscle enriched protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734132 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2125 Apeh acylaminoacyl-peptide hydrolase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 2125 Apeh acylaminoacyl-peptide hydrolase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 2125 Apeh acylaminoacyl-peptide hydrolase gene DOID:630 genetic disease ISO RGD:735668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2125 Apeh acylaminoacyl-peptide hydrolase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735668 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:0080016 spina bifida susceptibility ISO RGD:1606343 D RGD:2315675|PMID:15887293 20100108 RGD DNA:polymorphism: :p.D148E (human) 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606343 D RGD:2315660|PMID:19041121 20100107 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:114 heart disease ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22262564 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11832 visual epilepsy IEP D RGD:2302852|PMID:15854596 20100108 RGD protein:increased expression:neuron 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1380 endometrial cancer ISO RGD:1606343 D RGD:2315878|PMID:11465542 20100114 RGD DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1606343 D RGD:2315661|PMID:18701435 20100107 RGD DNA:polymorphism: :p.D148E (human) 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1824 status epilepticus IEP D RGD:1599366|PMID:11852039 20100108 RGD protein:increased expression:brain 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1909 melanoma ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16373707 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2316 brain ischemia IEP D RGD:2315686|PMID:9030714 20100108 RGD protein:decreased expression:hippocampus CA1, neuron 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2394 ovarian cancer ISO RGD:1606343 D RGD:2315656|PMID:19787261 20100107 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2394 ovarian cancer ISO RGD:1606343 D RGD:2315663|PMID:17974506 20100107 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2893 cervix carcinoma ISO RGD:1606343 D RGD:9068941 20220825 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606343 D RGD:2315667|PMID:11748448 20100107 RGD protein:altered localization:cytoplasm 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606343 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:2315657|PMID:19292061 20100107 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:2315662|PMID:18503157 20100107 RGD DNA:polymorphism: :p.D148E (human) 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1606343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:1606343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25109342 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:850 lung disease IEP D RGD:2315673|PMID:17280489 20100107 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606343 D RGD:2315666|PMID:11309329 20100107 RGD protein:increased expression, altered localization:prostate, cytoplasm 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2315670|PMID:18637713 20100107 RGD mRNA:increased expression:spinal cord 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000918 Disease Progression ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000998 Brain Injuries ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11447995 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:29541389 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:2315666|PMID:11309329 20100107 RGD protein:increased expression, altered localization:prostate, cytoplasm 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1606343 D RGD:2315665|PMID:16406883 20100107 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:2315676|PMID:15344903 20100108 RGD 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2315671|PMID:18373555 20100107 RGD protein:increased expression:placenta 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606343 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1606343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22245109 2126 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2315672|PMID:17602955 20100107 RGD protein:altered localization:cytoplasm 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:731852 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:10652 Alzheimer's disease IDA D RGD:734582|PMID:8086458 19990101 RGD 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:1289 neurodegenerative disease IEP D RGD:1358285|PMID:12372026 20180403 RGD protein:increased expression:striatum 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:5419 schizophrenia ISO RGD:731852 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:630 genetic disease ISO RGD:731852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11784781 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731852 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2128 Aplp2 amyloid beta precursor like protein 2 gene DOID:9007661 Dwarfism ISO RGD:731852 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2129 Apob apolipoprotein B gene DOID:0050952 spastic ataxia ISO RGD:735787 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 2129 Apob apolipoprotein B gene DOID:0080665 warfarin resistance ISO RGD:735787 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:25741868|PMID:26467025|PMID:28492532 2129 Apob apolipoprotein B gene DOID:0080666 warfarin sensitivity ISO RGD:735787 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:25741868|PMID:26467025|PMID:28492532 2129 Apob apolipoprotein B gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 2129 Apob apolipoprotein B gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:14732481|PMID:20981092|PMID:21408211|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28008009|PMID:28492532|PMID:30270084|PMID:30782561|PMID:31150472 2129 Apob apolipoprotein B gene DOID:0111061 familial hypobetalipoproteinemia 2 ISS RGD:735788 D RGD:13592920 20180518 MouseDO OMIM:605019 2129 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:7240710 20141015 OMIM 2129 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:1731805|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:1939657|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:2909827|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:3975124|PMID:4031057|PMID:7229035|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:10608 celiac disease ISO RGD:735787 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 2129 Apob apolipoprotein B gene DOID:10763 hypertension ISO RGD:735787 D RGD:1331525|PMID:15118671 19990101 GAD 2129 Apob apolipoprotein B gene DOID:10923 sickle cell anemia treatment ISO RGD:735787 D RGD:11354943|PMID:24035168 20160729 RGD 2129 Apob apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 2129 Apob apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:1578419|PMID:7627691 19990101 RGD 2129 Apob apolipoprotein B gene DOID:1168 familial hyperlipidemia treatment ISO RGD:735788 D RGD:14401726|PMID:15716585 20190703 RGD 2129 Apob apolipoprotein B gene DOID:1184 nephrotic syndrome IEP D RGD:11353965|PMID:11135070 20160727 RGD protein:increased expression:serum (rat) 2129 Apob apolipoprotein B gene DOID:12241 beta thalassemia ISO RGD:735787 D RGD:11354944|PMID:9180253 20160729 RGD protein:decreased expression:plasma (human) 2129 Apob apolipoprotein B gene DOID:1287 cardiovascular system disease ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16544732|PMID:17002798 2129 Apob apolipoprotein B gene DOID:1287 cardiovascular system disease ISO RGD:735787 D RGD:1331525|PMID:15118671 19990101 GAD 2129 Apob apolipoprotein B gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:735787 D RGD:14695090|PMID:27578115 20190703 RGD protein:increased expression:plasma (human) 2129 Apob apolipoprotein B gene DOID:13241 Behcet's disease ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:1601200|PMID:16797745 20070410 RGD protein:increased expression:plasma 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33207932|PMID:33269076|PMID:33303402|PMID:3399894|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:17964958|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:18710658|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20236128|PMID:20538126|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21657943|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:27153395|PMID:27206935|PMID:27497240|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:28008009|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30586733|PMID:30592178|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33269076|PMID:33418990|PMID:33740630|PMID:34037665|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205|PMID:9702952 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:11527221|PMID:3627182 20190513 RGD DNA:deletion:promoter, exon: 2129 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12031600|PMID:1360085|PMID:1424233|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33269076|PMID:33303402|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:1390 hypobetalipoproteinemia ISO RGD:735787 D RGD:1601203|PMID:16728468 20070410 RGD protein:decreased expression:plasma 2129 Apob apolipoprotein B gene DOID:1390 hypobetalipoproteinemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:1562615|PMID:15797858|PMID:15805152|PMID:1600334|PMID:1602000|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:21981844|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:2312735|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2567736|PMID:2574033|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8792774|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:1390 hypobetalipoproteinemia susceptibility ISO RGD:735787 D RGD:1599164|PMID:3473077 20070118 RGD 2129 Apob apolipoprotein B gene DOID:1712 aortic valve stenosis ISO RGD:735787 D RGD:1578425|PMID:11903341 19990101 RGD 2129 Apob apolipoprotein B gene DOID:2349 arteriosclerosis ISO RGD:735787 D RGD:2312763|PMID:19260948 20091029 RGD associated with Obesity 2129 Apob apolipoprotein B gene DOID:2394 ovarian cancer severity ISO RGD:735787 D RGD:11354936|PMID:9023386 20160729 RGD 2129 Apob apolipoprotein B gene DOID:3121 gallbladder cancer ISO RGD:735787 D RGD:2325761|PMID:20082485 20100609 RGD DNA:SNP: :rs693 (human) 2129 Apob apolipoprotein B gene DOID:3121 gallbladder cancer susceptibility ISO RGD:735787 D RGD:2325764|PMID:17696941 20100609 RGD 2129 Apob apolipoprotein B gene DOID:3393 coronary artery disease ISO RGD:735787 D RGD:1331525|PMID:15118671 19990101 GAD 2129 Apob apolipoprotein B gene DOID:3393 coronary artery disease ISO RGD:735787 D RGD:1578418|PMID:9585673 19990101 RGD 2129 Apob apolipoprotein B gene DOID:3393 coronary artery disease no_association ISO RGD:735787 D RGD:1578417|PMID:1732399 19990101 RGD 2129 Apob apolipoprotein B gene DOID:341 peripheral vascular disease ISO RGD:735787 D RGD:1331525|PMID:15118671 19990101 GAD 2129 Apob apolipoprotein B gene DOID:3526 cerebral infarction ISO RGD:735787 D RGD:2313973|PMID:2352345 20091029 RGD protein:increased expression:serum 2129 Apob apolipoprotein B gene DOID:4606 bile duct cancer susceptibility ISO RGD:735787 D RGD:2317550|PMID:18296645 20100609 RGD DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) 2129 Apob apolipoprotein B gene DOID:4607 biliary tract cancer ISO RGD:735787 D RGD:2325763|PMID:18076041 20100609 RGD protein:increased expression:serum 2129 Apob apolipoprotein B gene DOID:4608 common bile duct neoplasm ISO RGD:735787 D RGD:2325763|PMID:18076041 20100609 RGD protein:increased expression:serum 2129 Apob apolipoprotein B gene DOID:5844 myocardial infarction ISO RGD:735787 D RGD:1331525|PMID:15118671 19990101 GAD 2129 Apob apolipoprotein B gene DOID:630 genetic disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26361156|PMID:28492532 2129 Apob apolipoprotein B gene DOID:684 hepatocellular carcinoma ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 2129 Apob apolipoprotein B gene DOID:8947 diabetic retinopathy ISO RGD:735787 D RGD:2313976|PMID:19448981 20091029 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2129 Apob apolipoprotein B gene DOID:9000185 Coumarin Sensitivity ISO RGD:735787 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:25741868|PMID:26467025|PMID:28492532 2129 Apob apolipoprotein B gene DOID:9000528 Coronary Disease ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 2129 Apob apolipoprotein B gene DOID:9000528 Coronary Disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 2129 Apob apolipoprotein B gene DOID:9000543 Death ISO RGD:735787 D RGD:2313977|PMID:19412820 20091029 RGD associated with Diabetes Mellitus, Insulin-Dependent 2129 Apob apolipoprotein B gene DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9000808 Hypercholesterolemia IEP D RGD:1599167|PMID:16581047 20070118 RGD 2129 Apob apolipoprotein B gene DOID:9000808 Hypercholesterolemia ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1600334 2129 Apob apolipoprotein B gene DOID:9000808 Hypercholesterolemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:20657596|PMID:22923420|PMID:24033266|PMID:25647241|PMID:25741868|PMID:26415676|PMID:26467025|PMID:27578127|PMID:28492532 2129 Apob apolipoprotein B gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2567736|PMID:2843815|PMID:3473077 2129 Apob apolipoprotein B gene DOID:9002165 Diabetic Nephropathies ISO RGD:735787 D RGD:2313979|PMID:19324028 20091029 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2129 Apob apolipoprotein B gene DOID:9003370 Dyslipidemias ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18230960 2129 Apob apolipoprotein B gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 2129 Apob apolipoprotein B gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:735787 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:25741868 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10952765 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:1578415|PMID:9603795 19990101 RGD 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:1580998|PMID:12730697 20070424 RGD 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:1626106|PMID:17380167 20070711 RGD 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:7240710 20130221 OMIM 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:29572815|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:3399894|PMID:34037665|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 2129 Apob apolipoprotein B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642185|PMID:17292734 20100609 RGD 2129 Apob apolipoprotein B gene DOID:9005930 Endotoxemia IEP D RGD:1599165|PMID:16719989 20070118 RGD 2129 Apob apolipoprotein B gene DOID:9006599 Hypertriglyceridemia IEP D RGD:11353966|PMID:8121310 20160727 RGD protein:increased expression:plasma (rat) 2129 Apob apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657596 2129 Apob apolipoprotein B gene DOID:9006646 Metabolic Syndrome ISO RGD:735787 D RGD:1601198|PMID:16828905 20070410 RGD protein:increased expression:plasma 2129 Apob apolipoprotein B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735787 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2129 Apob apolipoprotein B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735787 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 2129 Apob apolipoprotein B gene DOID:9007096 Stroke ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stroke PMID:10208479|PMID:10388479|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11494965|PMID:11781700|PMID:11810272|PMID:1360085|PMID:14508510|PMID:1466657|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16250003|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:1977310|PMID:20145306|PMID:20236128|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21382890|PMID:21657943|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26892515|PMID:27497240|PMID:27765764|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27919364|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30270359|PMID:30592178|PMID:31028937|PMID:31106297|PMID:31345425|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205 2129 Apob apolipoprotein B gene DOID:9007102 Myocardial Ischemia ISO RGD:735787 D RGD:1578415|PMID:9603795 19990101 RGD 2129 Apob apolipoprotein B gene DOID:9007925 Sudden Cardiac Death ISO RGD:735787 D RGD:1601197|PMID:17045270 20070410 RGD 2129 Apob apolipoprotein B gene DOID:9008217 Hemorrhage ISO RGD:735787 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 2129 Apob apolipoprotein B gene DOID:9351 diabetes mellitus ISO RGD:735787 D RGD:2313973|PMID:2352345 20091029 RGD protein:increased expression:serum 2129 Apob apolipoprotein B gene DOID:9352 type 2 diabetes mellitus ISO RGD:735787 D RGD:2313981|PMID:18945923 20091029 RGD 2129 Apob apolipoprotein B gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735787 D RGD:11354945|PMID:15161783 20160729 RGD 2129 Apob apolipoprotein B gene DOID:9452 fatty liver disease IEP D RGD:2325770|PMID:17203948 20100609 RGD mRNA:increased expression:liver 2129 Apob apolipoprotein B gene DOID:9452 fatty liver disease ISO RGD:735787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12048068|PMID:17303181 2129 Apob apolipoprotein B gene DOID:9744 type 1 diabetes mellitus ISO RGD:735787 D RGD:2313972|PMID:1579407 20091029 RGD 2129 Apob apolipoprotein B gene DOID:9744 type 1 diabetes mellitus ISO RGD:735787 D RGD:2313980|PMID:19171731 20091029 RGD 2129 Apob apolipoprotein B gene DOID:9970 obesity ISO RGD:735787 D RGD:1331525|PMID:15118671 19990101 GAD 2129 Apob apolipoprotein B gene DOID:9970 obesity ISO RGD:735788 D RGD:2313974|PMID:19592617 20091029 RGD associated with Insulin Resistance;protein:increased expression:plasma 2130 Apoa1 apolipoprotein A1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735962 D RGD:5508222|PMID:20463180 20111011 RGD protein: decreased expression: respiratory system fluid/secretion 2130 Apoa1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:7240710 20130731 OMIM 2130 Apoa1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10198255|PMID:10487826|PMID:12050338|PMID:1502149|PMID:17303779|PMID:1901417|PMID:20884842|PMID:2108924|PMID:2123470|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:3141894|PMID:3142462|PMID:32041611|PMID:32666307|PMID:4304452|PMID:8675681|PMID:9916936 2130 Apoa1 apolipoprotein A1 gene DOID:0050700 cardiomyopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10173 D RGD:25671437|PMID:26420354 20200427 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:0080322 polycystic kidney disease ISO RGD:10173 D RGD:7241572|PMID:19637234 20130311 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:25671434|PMID:30187493 20200427 RGD mRNA, protein: increased expression:liver, serum (rat) 2130 Apoa1 apolipoprotein A1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:735962 D RGD:21408551|PMID:24793484 20200312 RGD human gene in mouse model 2130 Apoa1 apolipoprotein A1 gene DOID:0080690 RASopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:17303779|PMID:1898657|PMID:1901417|PMID:20884842|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:28870971|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:32041611|PMID:32666307|PMID:8240372 2130 Apoa1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:7240710 20140903 OMIM 2130 Apoa1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:2506176|PMID:2512329|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452|PMID:6800349|PMID:7981179|PMID:9514407|PMID:9931341 2130 Apoa1 apolipoprotein A1 gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 2130 Apoa1 apolipoprotein A1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735962 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:19559397 2130 Apoa1 apolipoprotein A1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0111123 nephronophthisis 15 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 2130 Apoa1 apolipoprotein A1 gene DOID:0111971 immunodeficiency 18 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0111972 immunodeficiency 19 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:0111973 immunodeficiency 17 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 2130 Apoa1 apolipoprotein A1 gene DOID:1059 intellectual disability ISO RGD:735962 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2130 Apoa1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:5508212|PMID:20847045 20111011 RGD DNA: : :transgenic model 2130 Apoa1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:5508218|PMID:19863188 20111011 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:10763 hypertension IEP D RGD:7241867|PMID:23401751 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 2130 Apoa1 apolipoprotein A1 gene DOID:10976 membranous glomerulonephritis ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7900854 2130 Apoa1 apolipoprotein A1 gene DOID:11446 sciatic neuropathy IEP D RGD:7495790|PMID:2493483 20131213 RGD protein:increased expression:sciatic nerve: 2130 Apoa1 apolipoprotein A1 gene DOID:11512 Budd-Chiari syndrome ISO RGD:735962 D RGD:25671435|PMID:21145806 20200427 RGD protein: decreased expression: plasma (human) 2130 Apoa1 apolipoprotein A1 gene DOID:1184 nephrotic syndrome IEP D RGD:2313652|PMID:18614621 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:1287 cardiovascular system disease ISO RGD:735962 D RGD:1331525|PMID:15118671 19990101 GAD 2130 Apoa1 apolipoprotein A1 gene DOID:13241 Behcet's disease ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 2130 Apoa1 apolipoprotein A1 gene DOID:1387 hypolipoproteinemia ISO RGD:735962 D RGD:734583|PMID:9931341 19990101 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:1388 Tangier disease ISO RGD:735962 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease PMID:25341944|PMID:25741868|PMID:28492532|PMID:7583566|PMID:7981179|PMID:8282791 2130 Apoa1 apolipoprotein A1 gene DOID:1391 Norum disease ISO RGD:735962 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) PMID:28492532|PMID:6489332|PMID:7082443 2130 Apoa1 apolipoprotein A1 gene DOID:14330 Parkinson's disease ISO RGD:735962 D RGD:5508216|PMID:20085559 20111011 RGD protein: altered expression: cerebrospinal fluid: 2 different isoforms 2130 Apoa1 apolipoprotein A1 gene DOID:1470 major depressive disorder susceptibility IEP D RGD:5128563|PMID:20580919 20111011 RGD protein: increased expression: cerebrospinal fluid 2130 Apoa1 apolipoprotein A1 gene DOID:1790 malignant mesothelioma ISO RGD:735962 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 2130 Apoa1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:2325757|PMID:17332923 20100609 RGD protein:increased expression:pancreas 2130 Apoa1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:2325758|PMID:17312459 20100609 RGD protein:decreased expression:serum 2130 Apoa1 apolipoprotein A1 gene DOID:1883 hepatitis C severity ISO RGD:735962 D RGD:25671441|PMID:19818291 20200427 RGD associated with liver cirrhosis; protein:decreased expression:serum (human) 2130 Apoa1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 2130 Apoa1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:7241852|PMID:23078847 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:1936 atherosclerosis treatment ISO RGD:735962 D RGD:7241575|PMID:18287885 20130311 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:2349 arteriosclerosis ISO RGD:735962 D RGD:1331525|PMID:15118671 19990101 GAD 2130 Apoa1 apolipoprotein A1 gene DOID:2349 arteriosclerosis treatment IDA D RGD:5508221|PMID:20639628 20111011 RGD associated with Kidney Failure, Chronic 2130 Apoa1 apolipoprotein A1 gene DOID:2377 multiple sclerosis ISO RGD:735962 D RGD:5508215|PMID:20350318 20111011 RGD protein:increased expression: serum 2130 Apoa1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma IEP D RGD:2325183|PMID:19399409 20100609 RGD mRNA:decreased expression:urinary bladder 2130 Apoa1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:735962 D RGD:7241214|PMID:21496341 20130305 RGD protein:increased expression:urine 2130 Apoa1 apolipoprotein A1 gene DOID:299 adenocarcinoma ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2130 Apoa1 apolipoprotein A1 gene DOID:3146 lipid metabolism disorder ISO RGD:735962 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:6816881 2130 Apoa1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 2130 Apoa1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:1331525|PMID:15118671 19990101 GAD 2130 Apoa1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:1601188|PMID:2128269 20070410 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:3770 pulmonary fibrosis ISO RGD:10173 D RGD:5508222|PMID:20463180 20111011 RGD protein:decreased expression: respiratory system fluid/secretion 2130 Apoa1 apolipoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:735962 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 2130 Apoa1 apolipoprotein A1 gene DOID:4947 cholangiocarcinoma ISO RGD:735962 D RGD:2325756|PMID:19486127 20100609 RGD protein:decreased expression:serum 2130 Apoa1 apolipoprotein A1 gene DOID:5082 liver cirrhosis ISO RGD:735962 D RGD:25671439|PMID:27106140 20200427 RGD protein:decreased expression:serum (human) 2130 Apoa1 apolipoprotein A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12646808 2130 Apoa1 apolipoprotein A1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:735962 D RGD:11561502|PMID:26996551 20220906 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:5844 myocardial infarction ISO RGD:735962 D RGD:1331525|PMID:15118671 19990101 GAD 2130 Apoa1 apolipoprotein A1 gene DOID:5844 myocardial infarction ISO RGD:735962 D RGD:2325759|PMID:20176799 20100609 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:5844 myocardial infarction no_association ISO RGD:735962 D RGD:1578442|PMID:10428310 19990101 RGD DNA:polymorphisms 2130 Apoa1 apolipoprotein A1 gene DOID:6000 congestive heart failure ISO RGD:735962 D RGD:5508219|PMID:17517342 20111011 RGD protein: decreased expression: serum 2130 Apoa1 apolipoprotein A1 gene DOID:630 genetic disease ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2130 Apoa1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2130 Apoa1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; 2130 Apoa1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:25671438|PMID:23935864 20200427 RGD protein:decreased expression:plasma (human) 2130 Apoa1 apolipoprotein A1 gene DOID:687 hepatoblastoma ISO RGD:735962 D RGD:25671440|PMID:27974108 20200427 RGD mRNA, protein:decreased expression:serum (human) 2130 Apoa1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:7241208|PMID:22515595 20130305 RGD protein:decreased expression:blood 2130 Apoa1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:7241576|PMID:18079481 20130311 RGD protein:increased expression, increased glycation:plasma 2130 Apoa1 apolipoprotein A1 gene DOID:783 end stage renal disease treatment ISO RGD:10173 D RGD:7241571|PMID:20488818 20130311 RGD associated with Hyperlipidemias 2130 Apoa1 apolipoprotein A1 gene DOID:784 chronic kidney disease ISO RGD:735962 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 2130 Apoa1 apolipoprotein A1 gene DOID:7998 hyperthyroidism IDA D RGD:1599158|PMID:1466661 20070118 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9000197 Edema ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20972769 2130 Apoa1 apolipoprotein A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 2130 Apoa1 apolipoprotein A1 gene DOID:9000543 Death ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20972769 2130 Apoa1 apolipoprotein A1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735962 D RGD:1601184|PMID:16309370 20070410 RGD DNA:polymorphisms: :-75G>A, 83C>T (human) 2130 Apoa1 apolipoprotein A1 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III PMID:2123470|PMID:25741868|PMID:3142462|PMID:4304452 2130 Apoa1 apolipoprotein A1 gene DOID:9001573 Experimental Liver Cirrhosis IDA D RGD:1599161|PMID:2123716 20070118 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452 2130 Apoa1 apolipoprotein A1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735962 D RGD:2313960|PMID:9829487 20091028 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9002513 Hypoproteinemia IDA D RGD:1599161|PMID:2123716 20070118 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9002669 Hypoxia ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 2130 Apoa1 apolipoprotein A1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735962 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2130 Apoa1 apolipoprotein A1 gene DOID:9004283 Transplant Rejection ISO RGD:735962 D RGD:7241209|PMID:21730889 20130305 RGD protein:decreased expression:plasma 2130 Apoa1 apolipoprotein A1 gene DOID:9004484 Sepsis treatment IDA D RGD:7241869|PMID:19561306 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9004492 Familial Amyloidosis ISO RGD:735962 D RGD:7241855|PMID:22495291 19990101 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9004581 Pediatric Obesity ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 2130 Apoa1 apolipoprotein A1 gene DOID:9004610 Acute Lung Injury ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20972769 2130 Apoa1 apolipoprotein A1 gene DOID:9005172 Lung Neoplasms ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 2130 Apoa1 apolipoprotein A1 gene DOID:9005236 Drug Eruptions ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 2130 Apoa1 apolipoprotein A1 gene DOID:9005372 Inflammation ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20972769 2130 Apoa1 apolipoprotein A1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735962 D RGD:1601186|PMID:9699897 20070410 RGD DNA:polymorphism:promoter:-75G>A (human) 2130 Apoa1 apolipoprotein A1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7241577|PMID:17488882 20130311 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment IDA D RGD:7241868|PMID:23227448 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:735962 D RGD:7241573|PMID:18593575 20130311 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735962 D RGD:7241574|PMID:18535924 20130311 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:735962 D RGD:1601187|PMID:7910586 20070410 RGD DNA:polymorphism:promoter:-75G>A 2130 Apoa1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:1601183|PMID:17217166 20070410 RGD protein:decreased expression:serum (human) 2130 Apoa1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:5508220|PMID:21410987 20111011 RGD DNA: polymorphism: :G2, G3 and G5 2130 Apoa1 apolipoprotein A1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18332268 2130 Apoa1 apolipoprotein A1 gene DOID:9007096 Stroke ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19433014 2130 Apoa1 apolipoprotein A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 2130 Apoa1 apolipoprotein A1 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:735962 D RGD:7241207|PMID:22659101 20130305 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9007661 Dwarfism ISO RGD:735962 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2130 Apoa1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:25671432|PMID:27015844 20200427 RGD mRNA, protein:decreased expression:liver, serum (human) 2130 Apoa1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:25671433|PMID:25115832 20200427 RGD protein:decreased expression:plasma (human) 2130 Apoa1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:5508214|PMID:21726101 20111011 RGD protein:decreased expression 2130 Apoa1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735962 D RGD:7241864|PMID:20131231 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10173 D RGD:7241863|PMID:20482780 20130319 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:10173 D RGD:5508213|PMID:20739292 20111011 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9282 ocular hypertension IEP D RGD:2303613|PMID:18626730 20180629 RGD protein:increased expression:retina 2130 Apoa1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:2313961|PMID:9649952 20091028 RGD protein:altered localization:plasma lipoprotein particle 2130 Apoa1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:7241576|PMID:18079481 20130311 RGD protein:increased expression, increased glycation:plasma 2130 Apoa1 apolipoprotein A1 gene DOID:9452 fatty liver disease treatment IEP D RGD:25671436|PMID:30231880 20200427 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735962 D RGD:2313962|PMID:9578960 20091028 RGD protein:increased expression:plasma 2130 Apoa1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:10173 D RGD:2313959|PMID:9933608 20091028 RGD 2130 Apoa1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:735962 D RGD:1601185|PMID:12725089 20070410 RGD protein:decreased expression 2131 Apoa2 apolipoprotein A2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2131 Apoa2 apolipoprotein A2 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737360 D RGD:1300287|PMID:12738753 19990101 RGD protein:increased expression:plasma: 2131 Apoa2 apolipoprotein A2 gene DOID:13810 familial hypercholesterolemia ISO RGD:737360 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2131 Apoa2 apolipoprotein A2 gene DOID:13810 familial hypercholesterolemia ISO RGD:737360 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12522687 2131 Apoa2 apolipoprotein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:737360 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2131 Apoa2 apolipoprotein A2 gene DOID:3393 coronary artery disease ISO RGD:737360 D RGD:2313956|PMID:17923573 20091028 RGD protein:decreased expression:serum 2131 Apoa2 apolipoprotein A2 gene DOID:630 genetic disease ISO RGD:737360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2131 Apoa2 apolipoprotein A2 gene DOID:684 hepatocellular carcinoma ISO RGD:737360 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; mRNA:increased expression:liver 2131 Apoa2 apolipoprotein A2 gene DOID:7998 hyperthyroidism IEP D RGD:1599158|PMID:1466661 20070118 RGD 2131 Apoa2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:2313958|PMID:11126402 20091028 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum 2131 Apoa2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:2313960|PMID:9829487 20091028 RGD 2131 Apoa2 apolipoprotein A2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12522687 2131 Apoa2 apolipoprotein A2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737360 D RGD:1601190|PMID:9489233 20070410 RGD DNA:polymorphism 2131 Apoa2 apolipoprotein A2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737360 D RGD:2313955|PMID:19817643 20091028 RGD protein:decreased expression:serum 2131 Apoa2 apolipoprotein A2 gene DOID:9006700 APOLIPOPROTEIN A-II DEFICIENCY ISO RGD:737360 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-II deficiency 2131 Apoa2 apolipoprotein A2 gene DOID:9007692 Insulin Resistance ISO RGD:732677 D RGD:2313957|PMID:11246886 20091028 RGD 2131 Apoa2 apolipoprotein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737360 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2131 Apoa2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:2313955|PMID:19817643 20091028 RGD protein:decreased expression:serum 2131 Apoa2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:2313961|PMID:9649952 20091028 RGD protein:altered localization:plasma lipoprotein particle 2131 Apoa2 apolipoprotein A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737360 D RGD:2313962|PMID:9578960 20091028 RGD protein:decreased expression:plasma 2131 Apoa2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:732677 D RGD:2313959|PMID:9933608 20091028 RGD 2131 Apoa2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:737360 D RGD:1601191|PMID:9002300 20070410 RGD protein:increased expression:serum 2132 Apoa4 apolipoprotein A4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:0060180 colitis ISO RGD:737553 D RGD:5685667|PMID:15254593 20120116 RGD human protein in mouse model 2132 Apoa4 apolipoprotein A4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:0080690 RASopathy ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 2132 Apoa4 apolipoprotein A4 gene DOID:0081267 graft-versus-host disease ISO RGD:737553 D RGD:5685691|PMID:19379511 20120117 RGD protein:increased expression:blood serum (human) 2132 Apoa4 apolipoprotein A4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:0111123 nephronophthisis 15 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 2132 Apoa4 apolipoprotein A4 gene DOID:0111971 immunodeficiency 18 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:0111972 immunodeficiency 19 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:0111973 immunodeficiency 17 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:1059 intellectual disability ISO RGD:737553 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2132 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:734420 D RGD:5685638|PMID:21356380 20120113 RGD 2132 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:5685661|PMID:16013913 20120116 RGD DNA:snp, haplotype:cds:p.S147N (rs5104) (human) 2132 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:5685681|PMID:9272683 20120116 RGD DNA:missense mutation:cds:p.Q360H (human) 2132 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease no_association ISO RGD:737553 D RGD:5685682|PMID:10559562 20120116 RGD DNA:missense mutation:cds:p.Q360H (human) 2132 Apoa4 apolipoprotein A4 gene DOID:12842 Guillain-Barre syndrome ISO RGD:737553 D RGD:5685658|PMID:18343991 20120116 RGD protein:increased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:12858 Huntington's disease ISO RGD:737553 D RGD:5147768|PMID:21297956 20120113 RGD protein:increased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:1287 cardiovascular system disease ISO RGD:737553 D RGD:1331525|PMID:15118671 19990101 GAD 2132 Apoa4 apolipoprotein A4 gene DOID:1287 cardiovascular system disease ISO RGD:737553 D RGD:5685637|PMID:21569504 20120113 RGD protein:decreased expression:blood plasma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:1389 polyneuropathy ISO RGD:737553 D RGD:5685648|PMID:19589605 20120113 RGD protein:increased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:1470 major depressive disorder IEP D RGD:5128563|PMID:20580919 20120113 RGD protein:increased expression:blood serum (rat) 2132 Apoa4 apolipoprotein A4 gene DOID:1686 glaucoma ISO RGD:737553 D RGD:5685641|PMID:21078314 20120113 RGD Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) 2132 Apoa4 apolipoprotein A4 gene DOID:1936 atherosclerosis ISO RGD:737553 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15822908 2132 Apoa4 apolipoprotein A4 gene DOID:2355 anemia ISO RGD:734420 D RGD:5685688|PMID:22146476 20120116 RGD associated with Inflammation; protein:increased expression:blood plasma (mouse) 2132 Apoa4 apolipoprotein A4 gene DOID:2378 relapsing-remitting multiple sclerosis onset ISO RGD:737553 D RGD:5685649|PMID:19383442 20120113 RGD protein:decreased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:5327 retinal detachment ISO RGD:737553 D RGD:5685692|PMID:19081814 20120117 RGD protein:increased expression:vitreous humor (human) 2132 Apoa4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 2132 Apoa4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:5685679|PMID:12836058 20120116 RGD protein:decreased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:574 peripheral nervous system disease ISO RGD:734420 D RGD:5685702|PMID:2050689 20120117 RGD mRNA:increased expression:liver (mouse) 2132 Apoa4 apolipoprotein A4 gene DOID:5844 myocardial infarction ISO RGD:737553 D RGD:1331525|PMID:15118671 19990101 GAD 2132 Apoa4 apolipoprotein A4 gene DOID:5844 myocardial infarction no_association ISO RGD:737553 D RGD:1578442|PMID:10428310 19990101 RGD DNA:mutation:intron:IVS2 (human) 2132 Apoa4 apolipoprotein A4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737553 D RGD:5685678|PMID:7958503 20120116 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human) 2132 Apoa4 apolipoprotein A4 gene DOID:630 genetic disease ISO RGD:737553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2132 Apoa4 apolipoprotein A4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737553 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; 2132 Apoa4 apolipoprotein A4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:737553 D RGD:5685659|PMID:18061280 20120116 RGD protein:increased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:7148 rheumatoid arthritis ISO RGD:737553 D RGD:5685646|PMID:20367977 20120113 RGD protein:increased expression:blood serum (human) 2132 Apoa4 apolipoprotein A4 gene DOID:784 chronic kidney disease disease_progression ISO RGD:737553 D RGD:5685637|PMID:21569504 20120113 RGD protein:increased expression:blood plasma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:8577 ulcerative colitis ISO RGD:737553 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2132 Apoa4 apolipoprotein A4 gene DOID:8577 ulcerative colitis severity ISO RGD:737553 D RGD:5685660|PMID:17206692 20120116 RGD DNA:missense mutation:cds:p.Q360H (human) 2132 Apoa4 apolipoprotein A4 gene DOID:8778 Crohn's disease severity ISO RGD:737553 D RGD:5685660|PMID:17206692 20120116 RGD protein:decreased expression:blood plasma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737553 D RGD:5685646|PMID:20367977 20120113 RGD protein:decreased expression:blood plasma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:8947 diabetic retinopathy ISO RGD:737553 D RGD:5685692|PMID:19081814 20120117 RGD protein:increased expression:vitreous humor (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9000528 Coronary Disease no_association ISO RGD:737553 D RGD:5685683|PMID:9013087 20120116 RGD DNA:missense mutation:cds:p.T347S (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737553 D RGD:1578411|PMID:12676816 19990101 RGD DNA:missense mutation:cds:p.T347S (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:2311210|PMID:2120218 20120116 RGD protein:increased expression:sciatic nerve (rat) 2132 Apoa4 apolipoprotein A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2132 Apoa4 apolipoprotein A4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2132 Apoa4 apolipoprotein A4 gene DOID:9002457 Experimental Arthritis IEP D RGD:5685694|PMID:10892728 20120117 RGD protein:decreased expression:blood serum (rat) 2132 Apoa4 apolipoprotein A4 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:737553 D RGD:5685662|PMID:16815451 20120116 RGD mRNA:increased expression:pancreas, carcinoma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737553 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2132 Apoa4 apolipoprotein A4 gene DOID:9005372 Inflammation IEP D RGD:5685694|PMID:10892728 20120117 RGD protein:decreased expression:blood serum (rat) 2132 Apoa4 apolipoprotein A4 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 2132 Apoa4 apolipoprotein A4 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:737553 D RGD:5685665|PMID:16372267 20120116 RGD protein:increased expression:cerebrospinal fluid (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9006190 Chronic Pancreatitis ISO RGD:737553 D RGD:5685680|PMID:11555832 20120116 RGD protein:decreased expression:blood plasma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737553 D RGD:5685672|PMID:2167514 20120116 RGD human gene in mouse model 2132 Apoa4 apolipoprotein A4 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737553 D RGD:5685673|PMID:226830 20120116 RGD protein:increased expression:blood plasma (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9007661 Dwarfism ISO RGD:737553 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2132 Apoa4 apolipoprotein A4 gene DOID:9008103 Seasonal Allergic Rhinitis resistance ISO RGD:737553 D RGD:5685642|PMID:20810159 20120113 RGD protein:increased expression:blood serum (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:737553 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2132 Apoa4 apolipoprotein A4 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737553 D RGD:5685692|PMID:19081814 20120117 RGD protein:increased expression:vitreous humor (human) 2132 Apoa4 apolipoprotein A4 gene DOID:9970 obesity ISO RGD:737553 D RGD:1331525|PMID:15118671 19990101 GAD 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:736126 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:736126 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736126 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:1168 familial hyperlipidemia IDA D RGD:1626277|PMID:11116209 20070730 RGD 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:219 colon cancer IEP D RGD:625559|PMID:12020819 20070730 RGD mRNA, protein:decreased expression:colon 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736126 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:916 liver benign neoplasm IMP D RGD:10755510|PMID:9633945 20160129 RGD 2133 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9970 obesity IEP D RGD:1626278|PMID:8781289 20070730 RGD mRNA:increased expression:liver 2134 Apoc1 apolipoprotein C1 gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691 2134 Apoc1 apolipoprotein C1 gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:1578472|PMID:11825674 19990101 RGD 2134 Apoc1 apolipoprotein C1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735472 D RGD:2325793|PMID:15876873 20100610 RGD 2134 Apoc1 apolipoprotein C1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735472 D RGD:153344621|PMID:21267442 20220831 RGD protein:decreased expression:serum 2134 Apoc1 apolipoprotein C1 gene DOID:6000 congestive heart failure ISO RGD:735472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 2134 Apoc1 apolipoprotein C1 gene DOID:630 genetic disease ISO RGD:735472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2134 Apoc1 apolipoprotein C1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735472 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; 2134 Apoc1 apolipoprotein C1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735472 D RGD:2313950|PMID:12753304 20091028 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle 2134 Apoc1 apolipoprotein C1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735472 D RGD:2313953|PMID:3757210 20091028 RGD protein:increased expression:plasma 2134 Apoc1 apolipoprotein C1 gene DOID:9007692 Insulin Resistance ISO RGD:735472 D RGD:2313951|PMID:11723061 20091028 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2134 Apoc1 apolipoprotein C1 gene DOID:9008023 Memory Disorders ISO RGD:735472 D RGD:1578426|PMID:11714102 19990101 RGD 2134 Apoc1 apolipoprotein C1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735472 D RGD:2313953|PMID:3757210 20091028 RGD protein:decreased expression:plasma 2134 Apoc1 apolipoprotein C1 gene DOID:9970 obesity ISO RGD:735472 D RGD:2313951|PMID:11723061 20091028 RGD 2135 Apoc2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:7240710 20191106 OMIM 2135 Apoc2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3192518|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 2135 Apoc2 apolipoprotein C2 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1352001 D RGD:1599175|PMID:1782747 20070118 RGD 2135 Apoc2 apolipoprotein C2 gene DOID:1184 nephrotic syndrome ISO RGD:1352001 D RGD:2313970|PMID:8366982 20091029 RGD protein:increased expression:serum 2135 Apoc2 apolipoprotein C2 gene DOID:1390 hypobetalipoproteinemia ISO RGD:1352001 D RGD:1601212|PMID:2242096 20070410 RGD protein:decreased expression:plasma 2135 Apoc2 apolipoprotein C2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1352001 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism 2135 Apoc2 apolipoprotein C2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 2135 Apoc2 apolipoprotein C2 gene DOID:2377 multiple sclerosis ISO RGD:1352001 D RGD:1358408|PMID:10335523 19990101 RGD 2135 Apoc2 apolipoprotein C2 gene DOID:3146 lipid metabolism disorder no_association ISO RGD:1352001 D RGD:1601206|PMID:7923858 20070410 RGD DNA:missense mutation: :p.K19T (human) 2135 Apoc2 apolipoprotein C2 gene DOID:630 genetic disease ISO RGD:1352001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2135 Apoc2 apolipoprotein C2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352001 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; mRNA:increased expression:liver 2135 Apoc2 apolipoprotein C2 gene DOID:783 end stage renal disease ISO RGD:1352001 D RGD:2313968|PMID:8139482 20091029 RGD associated with Diabetes Mellitus, Insulin-Dependent 2135 Apoc2 apolipoprotein C2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1352001 D RGD:1601205|PMID:7590197 20070410 RGD 2135 Apoc2 apolipoprotein C2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:1352001 D RGD:1601207|PMID:8490626 20070410 RGD associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) 2135 Apoc2 apolipoprotein C2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2135 Apoc2 apolipoprotein C2 gene DOID:9004590 Acute Liver Failure ISO RGD:1352001 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 2135 Apoc2 apolipoprotein C2 gene DOID:9005236 Drug Eruptions ISO RGD:1352001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 2135 Apoc2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1352001 D RGD:1601214|PMID:3944267 20070410 RGD 2135 Apoc2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1352001 D RGD:1601205|PMID:7590197 20070410 RGD 2135 Apoc2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1352001 D RGD:1601208|PMID:1468157 20070410 RGD protein:increased expression:serum 2135 Apoc2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias susceptibility ISO RGD:1352001 D RGD:1601204|PMID:16153625 20070410 RGD DNA:missense mutation: :p.L72P (human) 2135 Apoc2 apolipoprotein C2 gene DOID:9351 diabetes mellitus ISO RGD:1352001 D RGD:2313973|PMID:2352345 20091029 RGD protein:increased expression:serum 2135 Apoc2 apolipoprotein C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352001 D RGD:2313953|PMID:3757210 20091029 RGD protein:increased expression:plasma 2135 Apoc2 apolipoprotein C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352001 D RGD:2313966|PMID:12733353 20091029 RGD protein:increased expression:plasma 2135 Apoc2 apolipoprotein C2 gene DOID:9970 obesity ISO RGD:1352001 D RGD:1601191|PMID:9002300 20070410 RGD protein:increased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:0080162 lupus nephritis ISO RGD:737569 D RGD:7207211|PMID:17957542 20130123 RGD protein:increased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:0080690 RASopathy ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 2136 Apoc3 apolipoprotein C3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:0111123 nephronophthisis 15 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 2136 Apoc3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:7240710 20141015 OMIM 2136 Apoc3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 PMID:11060345|PMID:19074352|PMID:20097930|PMID:2022742|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093 2136 Apoc3 apolipoprotein C3 gene DOID:0111971 immunodeficiency 18 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:0111972 immunodeficiency 19 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:0111973 immunodeficiency 17 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 2136 Apoc3 apolipoprotein C3 gene DOID:1059 intellectual disability ISO RGD:737569 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2136 Apoc3 apolipoprotein C3 gene DOID:10603 glucose intolerance ISO RGD:737569 D RGD:1578441|PMID:11959336 19990101 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:10608 celiac disease ISO RGD:737569 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 2136 Apoc3 apolipoprotein C3 gene DOID:1067 open-angle glaucoma ISO RGD:737569 D RGD:10054092|PMID:23860758 20150727 RGD protein:increased expression: aqueous humor: 2136 Apoc3 apolipoprotein C3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome disease_progression ISO RGD:737569 D RGD:7207210|PMID:20797315 20130123 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:10179 D RGD:10054091|PMID:23542898 20150727 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:1184 nephrotic syndrome ISO RGD:737569 D RGD:2313970|PMID:8366982 20091029 RGD protein:increased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:1287 cardiovascular system disease ISO RGD:737569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 2136 Apoc3 apolipoprotein C3 gene DOID:13580 cholestasis IEP D RGD:10054045|PMID:17201892 20150723 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:10179 D RGD:1601225|PMID:15863838 20070411 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737569 D RGD:5685674|PMID:9062353 20120116 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) 2136 Apoc3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia no_association ISO RGD:737569 D RGD:5685676|PMID:9812922 20120116 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) 2136 Apoc3 apolipoprotein C3 gene DOID:1459 hypothyroidism IDA D RGD:1599190|PMID:8429259 20070118 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:1561 cognitive disorder ISO RGD:737569 D RGD:10054096|PMID:19424489 20150727 RGD associated with Diabetes Mellitus; 2136 Apoc3 apolipoprotein C3 gene DOID:1612 breast cancer disease_progression ISO RGD:737569 D RGD:153350084|PMID:28715644 20220906 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:2154 nephroblastoma ISO RGD:737569 D RGD:7207220|PMID:22160518 20130124 RGD protein:increased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:2972 renal artery obstruction ISO RGD:737569 D RGD:7207208|PMID:21613792 20130123 RGD protein:increased expression:plasma 2136 Apoc3 apolipoprotein C3 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:737569 D RGD:1578447|PMID:2879788 19990101 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 2136 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:1331525|PMID:15118671 19990101 GAD 2136 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:1578443|PMID:14709372 19990101 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:1626412|PMID:15059615 20070807 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737569 D RGD:153344621|PMID:21267442 20220831 RGD protein:decreased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737569 D RGD:153350083|PMID:27002935 20220906 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:3910 lung adenocarcinoma ISO RGD:737569 D RGD:153344619|PMID:19322776 20220831 RGD protein:altered glycosylation:: 2136 Apoc3 apolipoprotein C3 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:737569 D RGD:11561502|PMID:26996551 20220906 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:5844 myocardial infarction ISO RGD:737569 D RGD:1331525|PMID:15118671 19990101 GAD 2136 Apoc3 apolipoprotein C3 gene DOID:5844 myocardial infarction ISO RGD:737569 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to 2136 Apoc3 apolipoprotein C3 gene DOID:5844 myocardial infarction no_association ISO RGD:737569 D RGD:1578442|PMID:10428310 19990101 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:630 genetic disease ISO RGD:737569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2136 Apoc3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737569 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; 2136 Apoc3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737569 D RGD:153344620|PMID:27547913 20220831 RGD associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human) 2136 Apoc3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:2313968|PMID:8139482 20091029 RGD associated with Diabetes Mellitus, Insulin-Dependent 2136 Apoc3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:7207212|PMID:10822722 20130123 RGD protein:increased expression: : 2136 Apoc3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:7207207|PMID:21829457 20130123 RGD protein:increased expression:plasma 2136 Apoc3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:7207209|PMID:21297177 20130123 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:7998 hyperthyroidism IDA D RGD:1599190|PMID:8429259 20070118 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:8947 diabetic retinopathy severity ISO RGD:737569 D RGD:2306768|PMID:15642486 20090505 RGD protein:increased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:9000528 Coronary Disease ISO RGD:737569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:11060345|PMID:19074352|PMID:20097930|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093 2136 Apoc3 apolipoprotein C3 gene DOID:9000528 Coronary Disease no_association ISO RGD:737569 D RGD:1601224|PMID:16321685 20070411 RGD DNA:polymorphism:promoter:-482C>T 2136 Apoc3 apolipoprotein C3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737569 D RGD:2306754|PMID:17654446 20090505 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2136 Apoc3 apolipoprotein C3 gene DOID:9000808 Hypercholesterolemia ISO RGD:737569 D RGD:1578447|PMID:2879788 19990101 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737569 D RGD:2306755|PMID:16813599 20090505 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C 2136 Apoc3 apolipoprotein C3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737569 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2136 Apoc3 apolipoprotein C3 gene DOID:9004968 Yin Deficiency IEP D RGD:153350089|PMID:27843478 20220907 RGD protein:decreased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:9005172 Lung Neoplasms ISO RGD:737569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 2136 Apoc3 apolipoprotein C3 gene DOID:9005236 Drug Eruptions ISO RGD:737569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 2136 Apoc3 apolipoprotein C3 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 2136 Apoc3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737569 D RGD:1578444|PMID:7705829 19990101 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:737569 D RGD:2306767|PMID:15715433 20090505 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism 2136 Apoc3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:737569 D RGD:2306766|PMID:16298371 20090505 RGD protein:increased expression:serum (human) 2136 Apoc3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737569 D RGD:1601223|PMID:17416293 20070411 RGD DNA:polymorphism:promoter:-482C>T, -455T>C 2136 Apoc3 apolipoprotein C3 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2022742 2136 Apoc3 apolipoprotein C3 gene DOID:9007661 Dwarfism ISO RGD:737569 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2136 Apoc3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10179 D RGD:1601226|PMID:15734841 20070411 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:1580750|PMID:15007394 20150723 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:737569 D RGD:153344612|PMID:31502404 20220831 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9351 diabetes mellitus ISO RGD:737569 D RGD:2313973|PMID:2352345 20091029 RGD protein:increased expression:serum 2136 Apoc3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus IMP D RGD:7207205|PMID:21670290 20130123 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737569 D RGD:2313972|PMID:1579407 20091029 RGD 2136 Apoc3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:737569 D RGD:2306765|PMID:16505251 20090505 RGD DNA:polymorphisms: :multiple 2136 Apoc3 apolipoprotein C3 gene DOID:9970 obesity ISO RGD:737569 D RGD:1331525|PMID:15118671 19990101 GAD 2136 Apoc3 apolipoprotein C3 gene DOID:9970 obesity ISO RGD:737569 D RGD:1601191|PMID:9002300 20070411 RGD protein:increased expression:serum 2137 Apod apolipoprotein D gene DOID:10652 Alzheimer's disease ISO RGD:737460 D RGD:2311209|PMID:9751198 20090629 RGD protein:increased expression:cerebrospinal fluid, hippocampus 2137 Apod apolipoprotein D gene DOID:11714 gestational diabetes ISO RGD:737460 D RGD:2311180|PMID:6828336 20090629 RGD 2137 Apod apolipoprotein D gene DOID:1289 neurodegenerative disease ISO RGD:737460 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18458334 2137 Apod apolipoprotein D gene DOID:1824 status epilepticus IEP D RGD:2311203|PMID:10372566 20090629 RGD mRNA:increased expression:hippocampus 2137 Apod apolipoprotein D gene DOID:3070 high grade glioma ISO RGD:737460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 2137 Apod apolipoprotein D gene DOID:4762 vasculogenic impotence IEP D RGD:2311196|PMID:11444882 20090629 RGD mRNA:increased expression:penis erectile tissue 2137 Apod apolipoprotein D gene DOID:630 genetic disease ISO RGD:737460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2137 Apod apolipoprotein D gene DOID:8927 learning disability ISO RGD:737460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18419796 2137 Apod apolipoprotein D gene DOID:9000831 Hypokinesia ISO RGD:737460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21688324 2137 Apod apolipoprotein D gene DOID:9000998 Brain Injuries IEP D RGD:2311202|PMID:10501208 20090629 RGD mRNA, protein:increased expression:cerebral cortex, glia cell, neuron 2137 Apod apolipoprotein D gene DOID:9007096 Stroke IEP D RGD:2311182|PMID:17851453 20090629 RGD 2137 Apod apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:2311177|PMID:15369805 20090629 RGD 2137 Apod apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:2311178|PMID:7895459 20090629 RGD DNA:polymorphism 2137 Apod apolipoprotein D gene DOID:9970 obesity ISO RGD:737460 D RGD:2311179|PMID:7913935 20090629 RGD DNA:polymorphism 2138 Apoe apolipoprotein E gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:736378 D RGD:7771598|PMID:9740234 20131220 RGD protein:increased expression:skin: 2138 Apoe apolipoprotein E gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:733604 D RGD:12904641|PMID:15007105 20170517 RGD 2138 Apoe apolipoprotein E gene DOID:0050847 sleep apnea ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:0050851 glomerulosclerosis IDA D RGD:6903285|PMID:21907828 20121001 RGD 2138 Apoe apolipoprotein E gene DOID:0050851 glomerulosclerosis IEP D RGD:6903199|PMID:22207560 20120926 RGD protein:increased expression:renal glomerulus (rat) 2138 Apoe apolipoprotein E gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:736378 D RGD:7771550|PMID:18515564 20131219 RGD 2138 Apoe apolipoprotein E gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:6904141|PMID:21184788 20121010 RGD 2138 Apoe apolipoprotein E gene DOID:0080665 warfarin resistance ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:0080666 warfarin sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2138 Apoe apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:7240710 20230517 OMIM 2138 Apoe apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:25741868|PMID:28492532 2138 Apoe apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2138 Apoe apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:7240710 20230517 OMIM 2138 Apoe apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:0110040 Alzheimer's disease 4 ISO RGD:736378 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 2138 Apoe apolipoprotein E gene DOID:0110040 Alzheimer's disease 4 ISO RGD:736378 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:10213152|PMID:10213549|PMID:10799751|PMID:11068149|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16621646|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:24082139|PMID:24644280|PMID:25741868|PMID:26802169|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32058863|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:7240710 20230517 OMIM 2138 Apoe apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 PMID:10432380|PMID:18077821|PMID:25741868|PMID:28492532 2138 Apoe apolipoprotein E gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:736378 D RGD:7771593|PMID:17454231 20131220 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:10211 cholelithiasis susceptibility ISO RGD:736378 D RGD:2317550|PMID:18296645 20100409 RGD DNA:SNP:intron:rs440446 (human) 2138 Apoe apolipoprotein E gene DOID:10230 aortic atherosclerosis IMP D RGD:13703129|PMID:29459263 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease IEP D RGD:6903910|PMID:22020632 20121008 RGD protein:increased expression:hippocampus, synapse (rat) 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:8346443|PMID:19734902|PMID:20819998|PMID:24162737|PMID:24473795|PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:6903910|PMID:22020632 20121008 RGD protein:increased expression:parietal cortex, synapse (human) 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease no_association ISO RGD:736378 D RGD:7771594|PMID:18057979 20131220 RGD DNA:polymorphism:promoter:-491A>T,-427T>C(human) 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:10427727|PMID:20574532 20191011 RGD DNA:SNP: :APOEe4(human) 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:6903233|PMID:10027549 20120926 RGD DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) 2138 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease treatment IEP D RGD:12904712|PMID:20088507 20170518 RGD 2138 Apoe apolipoprotein E gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736378 D RGD:7495786|PMID:16110302 20131213 RGD 2138 Apoe apolipoprotein E gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736378 D RGD:7495787|PMID:15525904 20131213 RGD DNA:polymorphisms:promoter: 2138 Apoe apolipoprotein E gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736378 D RGD:7771556|PMID:17706090 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:1074 kidney failure ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 2138 Apoe apolipoprotein E gene DOID:10763 hypertension ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20720404|PMID:22228705 2138 Apoe apolipoprotein E gene DOID:10763 hypertension ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:10763 hypertension onset IEP D RGD:6904214|PMID:20585107 20121016 RGD mRNA:decreased expression:multiple (rat) 2138 Apoe apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736378 D RGD:7775015|PMID:16079201 20131230 RGD 2138 Apoe apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736378 D RGD:7495762|PMID:9512153 20131212 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:10976 membranous glomerulonephritis IEP D RGD:6903854|PMID:22785171 20121004 RGD protein:increased expression:serum (rat) 2138 Apoe apolipoprotein E gene DOID:11446 sciatic neuropathy IEP D RGD:7495790|PMID:2493483 20131213 RGD protein:increased expression:sciatic nerve: 2138 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia IMP D RGD:13703129|PMID:29459263 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia IMP D RGD:150521536|PMID:30796231 20211109 RGD 2138 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:12871831|PMID:20530721|PMID:20937366 2138 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia treatment IDA D RGD:6903856|PMID:22762542 20121004 RGD 2138 Apoe apolipoprotein E gene DOID:1184 nephrotic syndrome ISO RGD:736378 D RGD:12904707|PMID:2381443 20170518 RGD protein:increased expression:serum (human) 2138 Apoe apolipoprotein E gene DOID:12217 Lewy body dementia ISO RGD:736378 D RGD:7771591|PMID:21907175 20131220 RGD protein:increased expression:neuron: 2138 Apoe apolipoprotein E gene DOID:12241 beta thalassemia ISO RGD:736378 D RGD:11039491|PMID:22705320 20160304 RGD 2138 Apoe apolipoprotein E gene DOID:12365 malaria ISO RGD:736378 D RGD:11039486|PMID:24116184 20160304 RGD DNA:missense mutations:cds:p.C112R, p.C158R (human) 2138 Apoe apolipoprotein E gene DOID:1287 cardiovascular system disease ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 2138 Apoe apolipoprotein E gene DOID:1287 cardiovascular system disease ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:12894 Sjogren's syndrome onset ISO RGD:736378 D RGD:7495765|PMID:15328426 20131212 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:736378 D RGD:1601240|PMID:16714771 20070411 RGD 2138 Apoe apolipoprotein E gene DOID:13001 carotid stenosis ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17243563 2138 Apoe apolipoprotein E gene DOID:1307 dementia ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736378 D RGD:7495800|PMID:16778644 20131213 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:736378 D RGD:7771556|PMID:17706090 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:13580 cholestasis ISO RGD:736378 D RGD:2317548|PMID:19055369 20100409 RGD associated with Pancreatic Neoplasms;protein:increased expression:plasma 2138 Apoe apolipoprotein E gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736378 D RGD:7771555|PMID:15939044 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:13809 familial combined hyperlipidemia ISO RGD:736378 D RGD:1578481|PMID:12915220 19990101 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:13809 familial combined hyperlipidemia ISO RGD:736378 D RGD:1601231|PMID:17127808 20070411 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211108 RGD 2138 Apoe apolipoprotein E gene DOID:13810 familial hypercholesterolemia ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2138 Apoe apolipoprotein E gene DOID:14330 Parkinson's disease ISO RGD:736378 D RGD:7771591|PMID:21907175 20131220 RGD protein:increased expression:neuron: 2138 Apoe apolipoprotein E gene DOID:1459 hypothyroidism IEP D RGD:12904658|PMID:6816881 20170517 RGD protein:increased expression:plasma, high-density lipoprotein particle (rat) 2138 Apoe apolipoprotein E gene DOID:1561 cognitive disorder ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18239197 2138 Apoe apolipoprotein E gene DOID:1612 breast cancer no_association ISO RGD:736378 D RGD:7771592|PMID:16752225 20131220 RGD DNA:polymprphism:exon: 2138 Apoe apolipoprotein E gene DOID:1612 breast cancer susceptibility ISO RGD:736378 D RGD:7495789|PMID:15830139 20131213 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:1686 glaucoma ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:1793 pancreatic cancer ISO RGD:736378 D RGD:2317552|PMID:16215274 20100409 RGD protein:increased expression:pancreas (human) 2138 Apoe apolipoprotein E gene DOID:1920 hyperuricemia susceptibility ISO RGD:736378 D RGD:1601235|PMID:15713714 20120926 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:1936 atherosclerosis IMP D RGD:150521536|PMID:30796231 20211109 RGD 2138 Apoe apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:734968|PMID:1411543 20120925 RGD 2138 Apoe apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:736378 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:9169506|PMID:9409251|PMID:9649566|PMID:11095717|PMID:11231916|PMID:11947894|PMID:12871831|PMID:14594625|PMID:16020748|PMID:16303615|PMID:17438151|PMID:18093987|PMID:18269830|PMID:19124646|PMID:19682479|PMID:20093625|PMID:21043830|PMID:21512104|PMID:21908651|PMID:22005275|PMID:22022523|PMID:22228805|PMID:23148895|PMID:23639522|PMID:24017971|PMID:24096154|PMID:24330719|PMID:25020133|PMID:28483571|PMID:30376133|PMID:33861588|PMID:34673409 2138 Apoe apolipoprotein E gene DOID:1936 atherosclerosis treatment ISO RGD:736378 D RGD:7771549|PMID:7593602 20131219 RGD 2138 Apoe apolipoprotein E gene DOID:2030 anxiety disorder ISO RGD:736378 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 2138 Apoe apolipoprotein E gene DOID:224 transient cerebral ischemia IEP D RGD:6903926|PMID:19623195 20150825 RGD 2138 Apoe apolipoprotein E gene DOID:2349 arteriosclerosis ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17118406|PMID:18287887 2138 Apoe apolipoprotein E gene DOID:2377 multiple sclerosis ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048896 2138 Apoe apolipoprotein E gene DOID:2377 multiple sclerosis ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736378 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:15096402|PMID:34624384 2138 Apoe apolipoprotein E gene DOID:2921 glomerulonephritis ISO RGD:733604 D RGD:6903286|PMID:21801865 20121001 RGD Apoe(-/-) Id3(-/-) double knockout 2138 Apoe apolipoprotein E gene DOID:299 adenocarcinoma ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20430468 2138 Apoe apolipoprotein E gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736378 D RGD:2317550|PMID:18296645 20100409 RGD DNA:SNP:intron:rs440446 (human) 2138 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9649566|PMID:12506591|PMID:16143024 2138 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:12880367|PMID:199847 20170503 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:14401584|PMID:7175379 20190513 RGD DNA:missense mutation:cds:p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:7240710 20230517 OMIM 2138 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) PMID:10587578|PMID:11500500|PMID:12774036|PMID:1356443|PMID:1360898|PMID:1361196|PMID:15096402|PMID:15256764|PMID:16103896|PMID:16143024|PMID:16690468|PMID:1713245|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:2101409|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:2556398|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3029073|PMID:3038959|PMID:3243553|PMID:33116287|PMID:3721502|PMID:3745433|PMID:3771793|PMID:6300187|PMID:6795720|PMID:7175379|PMID:7635945|PMID:7735921|PMID:9157949|PMID:9176854|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:3310 atopic dermatitis ISO RGD:736378 D RGD:11040546|PMID:19116453 20160310 RGD protein:decreased expression:plasma 2138 Apoe apolipoprotein E gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:736378 D RGD:12880359|PMID:8899655 20170503 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:3393 coronary artery disease IMP D RGD:13703132|PMID:28808185 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:1578449|PMID:12860263 19990101 RGD DNA:missense mutation:cds:p.C112R (human) 2138 Apoe apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:1626412|PMID:15059615 20070807 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;DNA:SNP:promoter:-219G>T (human) 2138 Apoe apolipoprotein E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736378 D RGD:1580039|PMID:14563588 19990101 RGD DNA:snp, missense mutation:promoter, cds:g.-219G>T, p.C112R (human) 2138 Apoe apolipoprotein E gene DOID:3407 carotid artery disease ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 2138 Apoe apolipoprotein E gene DOID:3407 carotid artery disease ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:3525 middle cerebral artery infarction IDA D RGD:6903926|PMID:19623195 20121008 RGD 2138 Apoe apolipoprotein E gene DOID:3526 cerebral infarction susceptibility ISO RGD:736378 D RGD:1601237|PMID:17016617 20070411 RGD DNA:polymorphism: :3932T>C (human) 2138 Apoe apolipoprotein E gene DOID:3905 lung carcinoma ISO RGD:736378 D RGD:11040551|PMID:24175756 20160310 RGD 2138 Apoe apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11095479 2138 Apoe apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:7240710 20230517 OMIM 2138 Apoe apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis PMID:25741868|PMID:28492532 2138 Apoe apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16453339 2138 Apoe apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:7775015|PMID:16079201 20131230 RGD 2138 Apoe apolipoprotein E gene DOID:4448 macular degeneration no_association ISO RGD:736378 D RGD:7771552|PMID:10859513 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:7495761|PMID:12567264 20131212 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:7771587|PMID:19384966 20131220 RGD DNA:haplotype:cds: 2138 Apoe apolipoprotein E gene DOID:4606 bile duct cancer susceptibility ISO RGD:736378 D RGD:2317550|PMID:18296645 20100409 RGD DNA:SNP:intron:rs440446 (human) 2138 Apoe apolipoprotein E gene DOID:5419 schizophrenia IEA D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:5419 schizophrenia ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2138 Apoe apolipoprotein E gene DOID:5679 retinal disease susceptibility ISO RGD:736378 D RGD:7495760|PMID:17562993 20131212 RGD 2138 Apoe apolipoprotein E gene DOID:576 proteinuria ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 2138 Apoe apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:10449412|PMID:10090925 20160310 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.C158R (human) 2138 Apoe apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10587578 2138 Apoe apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:5844 myocardial infarction susceptibility ISO RGD:736378 D RGD:1601229|PMID:17217375 20070411 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:6000 congestive heart failure ISO RGD:736378 D RGD:11039487|PMID:9787187 20160304 RGD associated with Beta-Thalassemia 2138 Apoe apolipoprotein E gene DOID:630 genetic disease ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2138 Apoe apolipoprotein E gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:736378 D RGD:1601227|PMID:17376122 20070411 RGD 2138 Apoe apolipoprotein E gene DOID:684 hepatocellular carcinoma ISO RGD:733604 D RGD:6903288|PMID:21644509 20121001 RGD protein:increased expression:liver, serum (mouse) 2138 Apoe apolipoprotein E gene DOID:7693 abdominal aortic aneurysm ISO RGD:733604 D RGD:6903247|PMID:10841519 20120927 RGD 2138 Apoe apolipoprotein E gene DOID:7693 abdominal aortic aneurysm disease_progression ISO RGD:736378 D RGD:1578483|PMID:10848855 19990101 RGD DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) 2138 Apoe apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:733604 D RGD:6903287|PMID:21705678 20121001 RGD 2138 Apoe apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:736378 D RGD:6904217|PMID:21332332 20121016 RGD protein:increased expression:serum (human) 2138 Apoe apolipoprotein E gene DOID:8566 herpes simplex ISO RGD:736378 D RGD:7771596|PMID:17101197 20131220 RGD 2138 Apoe apolipoprotein E gene DOID:8893 psoriasis ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16433808 2138 Apoe apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:7495788|PMID:16433808 20131213 RGD DNA:SNP: :3937C>T(human) 2138 Apoe apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:7771595|PMID:19499236 20131220 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:893 Wilson disease ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10686180 2138 Apoe apolipoprotein E gene DOID:8947 diabetic retinopathy no_association ISO RGD:736378 D RGD:7771553|PMID:11495633 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:736378 D RGD:7771557|PMID:16862278 20131219 RGD associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13703128|PMID:30036659 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:736378 D RGD:7771551|PMID:18581664 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:736378 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:17438151|PMID:18093987|PMID:19124646|PMID:20720404|PMID:22770994|PMID:22869926|PMID:24330719|PMID:24933211|PMID:29355567|PMID:29425287|PMID:30376133|PMID:30533443|PMID:32081687|PMID:32853627|PMID:34862716 2138 Apoe apolipoprotein E gene DOID:9000185 Coumarin Sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:9000352 Vascular System Injuries IEP D RGD:5509868|PMID:21416056 20121010 RGD protein:decreased expression:plasma (rat) 2138 Apoe apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:733604 D RGD:6904145|PMID:21163611 20121010 RGD 2138 Apoe apolipoprotein E gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:9000528 Coronary Disease ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10736278 2138 Apoe apolipoprotein E gene DOID:9000528 Coronary Disease ISO RGD:736378 D RGD:1578479|PMID:11862316 19990101 RGD DNA:polymorphisms, haplotype:promoter, cds:g.-219G>T, p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:9000528 Coronary Disease onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter, cds:g.-219G>T, p.C112R, p.R158C (human) PMID:11862316|REF_RGD_ID:1578479 2138 Apoe apolipoprotein E gene DOID:9000784 Fibrosis ISO RGD:736378 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:32081687 2138 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia IMP D RGD:13703132|PMID:28808185 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia ISO RGD:733604 D RGD:734968|PMID:1411543 20120925 RGD 2138 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia ISO RGD:736378 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:11397713|PMID:21043830|PMID:22022523|PMID:22228805 2138 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia ISO RGD:736378 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia PMID:16103896|PMID:16143024|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:22992668|PMID:25741868|PMID:2992507|PMID:3243553|PMID:6300187|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia severity ISO RGD:736378 D RGD:6903838|PMID:21357213 20121003 RGD associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human) 2138 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:736378 D RGD:1601229|PMID:17217375 20070411 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:9000918 Disease Progression ISO RGD:736378 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:24473795 2138 Apoe apolipoprotein E gene DOID:9000936 Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysbetalipoproteinemia due to defect in apolipoprotein e-d PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9000965 Neoplasm Metastasis ISO RGD:733604 D RGD:7771597|PMID:22469977 20131220 RGD 2138 Apoe apolipoprotein E gene DOID:9000998 Brain Injuries ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:6906875|PMID:2419900 20121017 RGD protein:increased expression:sciatic nerve (rat) 2138 Apoe apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:736378 D RGD:6906874|PMID:20406857 20121017 RGD mouse model treated with human peptide 2138 Apoe apolipoprotein E gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736378 D RGD:11039488|PMID:15077085 20160304 RGD 2138 Apoe apolipoprotein E gene DOID:9002165 Diabetic Nephropathies ISO RGD:733604 D RGD:6902935|PMID:22859852 20120925 RGD associated with Diabetes Mellitus, Experimental 2138 Apoe apolipoprotein E gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736378 D RGD:7771553|PMID:11495633 20131219 RGD associated with Diabetes Mellitus, type 1; 2138 Apoe apolipoprotein E gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736378 D RGD:6903840|PMID:21127830 19990101 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:9002208 Familial Hyperbeta- and Prebetalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736378 D RGD:11040549|PMID:18784741 20160310 RGD 2138 Apoe apolipoprotein E gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4891147|PMID:19923365 20170517 RGD mRNA:increased expression:adrenal gland (rat) 2138 Apoe apolipoprotein E gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736378 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 2138 Apoe apolipoprotein E gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736378 D RGD:6904207|PMID:19251191 20121015 RGD DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) 2138 Apoe apolipoprotein E gene DOID:9002720 Splenomegaly ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11095479 2138 Apoe apolipoprotein E gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:13703134|PMID:28578430 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:736378 D RGD:7495797|PMID:12231459 20131213 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:9002822 Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9002884 Emphysema ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24096154 2138 Apoe apolipoprotein E gene DOID:9002955 Nerve Degeneration ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 2138 Apoe apolipoprotein E gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:736378 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism 2138 Apoe apolipoprotein E gene DOID:9003281 Spontaneous Abortions ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22266326 2138 Apoe apolipoprotein E gene DOID:9003370 Dyslipidemias ISO RGD:736378 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:25037058|PMID:32853627|PMID:34862716 2138 Apoe apolipoprotein E gene DOID:9003370 Dyslipidemias ISO RGD:736378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 2138 Apoe apolipoprotein E gene DOID:9003468 Apolipoprotein E, Deficiency or Defect of ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9003556 Floating-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Floating-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9003709 Mercury Poisoning ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16891999 2138 Apoe apolipoprotein E gene DOID:9003828 Klebsiella Infections severity ISO RGD:733604 D RGD:11039489|PMID:10998083 20160304 RGD 2138 Apoe apolipoprotein E gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:736378 D RGD:7771554|PMID:11118260 20131219 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:9003871 Venous Thrombosis ISO RGD:733604 D RGD:6903200|PMID:22119245 20120926 RGD 2138 Apoe apolipoprotein E gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736378 D RGD:7495764|PMID:12143056 20131212 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:9004538 Hearing Loss ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19738398 2138 Apoe apolipoprotein E gene DOID:9004769 Broad-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22992668|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:33116287|PMID:3745433|PMID:6300187|PMID:7735921|PMID:9157949|PMID:9649566 2138 Apoe apolipoprotein E gene DOID:9005172 Lung Neoplasms ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:20430468 2138 Apoe apolipoprotein E gene DOID:9005179 Chronic Brain Injury susceptibility ISO RGD:736378 D RGD:7495763|PMID:9214529 20131212 RGD DNA:polymorphism:exon: 2138 Apoe apolipoprotein E gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733604 D RGD:7771597|PMID:22469977 20131220 RGD 2138 Apoe apolipoprotein E gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 2138 Apoe apolipoprotein E gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599198|PMID:16947119 20070119 RGD protein:decreased expression:plasma (rat) 2138 Apoe apolipoprotein E gene DOID:9005930 Endotoxemia ISO RGD:736378 D RGD:6904216|PMID:9153287 20121016 RGD rat model treated with human protein 2138 Apoe apolipoprotein E gene DOID:9006599 Hypertriglyceridemia IMP D RGD:13703132|PMID:28808185 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:9006599 Hypertriglyceridemia ISO RGD:736378 D RGD:1331525|PMID:15118671 20140211 GAD 2138 Apoe apolipoprotein E gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:736378 D RGD:1601235|PMID:15713714 20070411 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:11040583|PMID:8413767 20160311 RGD 2138 Apoe apolipoprotein E gene DOID:9007096 Stroke ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:736378 D RGD:1601238|PMID:17006673 20070411 RGD DNA:polymorphism:promoter:-219G>T (human) 2138 Apoe apolipoprotein E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 2138 Apoe apolipoprotein E gene DOID:9007479 Habitual Abortions ISO RGD:736378 D RGD:11039490|PMID:19086990 20160304 RGD 2138 Apoe apolipoprotein E gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:13703133|PMID:28620701 20180803 RGD protein:increased expression:cerebral cortex, synapse 2138 Apoe apolipoprotein E gene DOID:9007973 Genetic Translocation ISO RGD:736378 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:34670124 2138 Apoe apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:733604 D RGD:12904706|PMID:8584214 20170518 RGD 2138 Apoe apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:736378 D RGD:1578426|PMID:11714102 19990101 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:736378 D RGD:14401585|PMID:20961200 20190703 RGD DNA:missense mutations:cds:p.C112R, p.R158C (human) 2138 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9176854|PMID:10432380 2138 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:6903201|PMID:10903326 20120926 RGD human mutant gene (p.R145P) in mouse knockout 2138 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:6903202|PMID:9176854 20120926 RGD DNA:missense mutation:cds:p.R145P (human) 2138 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:7240710 20230517 OMIM 2138 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipoprotein glomerulopathy PMID:10213549|PMID:10432380|PMID:10799751|PMID:10903326|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15256764|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18077821|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:2101409|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9176854|PMID:9343467|PMID:9932938 2138 Apoe apolipoprotein E gene DOID:9008808 Pregnancy Complications, Infectious treatment IEP D RGD:12904700|PMID:22341339 20170518 RGD 2138 Apoe apolipoprotein E gene DOID:9120 amyloidosis ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15993987 2138 Apoe apolipoprotein E gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11061249 2138 Apoe apolipoprotein E gene DOID:9279 hyperhomocysteinemia treatment IEP D RGD:6903856|PMID:22762542 20151008 RGD 2138 Apoe apolipoprotein E gene DOID:9351 diabetes mellitus treatment ISO RGD:736378 D RGD:1601230|PMID:17192461 20150727 RGD 2138 Apoe apolipoprotein E gene DOID:9352 type 2 diabetes mellitus ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:9352 type 2 diabetes mellitus ISO RGD:736378 D RGD:2317556|PMID:18950899 20100409 RGD protein:increased expression:pancreatic islet 2138 Apoe apolipoprotein E gene DOID:9452 fatty liver disease IMP D RGD:13703129|PMID:29459263 20180803 RGD 2138 Apoe apolipoprotein E gene DOID:9452 fatty liver disease ISO RGD:736378 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32853627 2138 Apoe apolipoprotein E gene DOID:9538 multiple myeloma treatment ISO RGD:736378 D RGD:11040544|PMID:22348216 20160310 RGD 2138 Apoe apolipoprotein E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736378 D RGD:6903197|PMID:22678621 20120926 RGD protein:decreased expression:urine (human) 2138 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:733604 D RGD:1601230|PMID:17192461 20150727 RGD 2138 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 2138 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:1331525|PMID:15118671 19990101 GAD 2138 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:1601191|PMID:9002300 20070410 RGD protein:increased expression:serum 2139 App amyloid beta precursor protein gene DOID:0050700 cardiomyopathy ISO RGD:736021 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 2139 App amyloid beta precursor protein gene DOID:0050850 diabetic encephalopathy treatment IEP D RGD:13782056|PMID:28885995 20180817 RGD associated with type 2 diabetes mellitus 2139 App amyloid beta precursor protein gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis PMID:25604855|PMID:25741868|PMID:28492532 2139 App amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2111584|PMID:10821838 2139 App amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:7240710 20171206 OMIM 2139 App amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related PMID:10441572|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11978821|PMID:12552037|PMID:12654973|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16178030|PMID:1634237|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16931535|PMID:18413473|PMID:19061884|PMID:1908231|PMID:19225789|PMID:1925564|PMID:19281847|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20523046|PMID:20697050|PMID:2111584|PMID:21210284|PMID:22503161|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25138979|PMID:25604855|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:32087291|PMID:32908482|PMID:7611715|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 2139 App amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:7240710 20181017 OMIM 2139 App amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease PMID:10097173|PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:10867787|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15668448|PMID:15776278|PMID:1584464|PMID:16033913|PMID:1634237|PMID:16505331|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:16931535|PMID:17493013|PMID:18187157|PMID:18234110|PMID:18413473|PMID:18437002|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19363265|PMID:1944558|PMID:19950418|PMID:20005601|PMID:20063202|PMID:20301414|PMID:20452985|PMID:20523046|PMID:20634584|PMID:21210284|PMID:21777674|PMID:22503161|PMID:22702962|PMID:23143229|PMID:23224319|PMID:23380992|PMID:23515184|PMID:24033266|PMID:24390130|PMID:24524897|PMID:24650794|PMID:24677022|PMID:24694184|PMID:24880964|PMID:25138979|PMID:25741868|PMID:25948718|PMID:26402770|PMID:26444762|PMID:26467025|PMID:26803359|PMID:26888304|PMID:27777022|PMID:27838006|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29770843|PMID:29859640|PMID:30045758|PMID:30279455|PMID:31011484|PMID:32087291|PMID:32908482|PMID:7611715|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8154870|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8461968|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8644866|PMID:8649577|PMID:8650548|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 2139 App amyloid beta precursor protein gene DOID:0081292 traumatic brain injury treatment ISO RGD:736021 D RGD:13782048|PMID:29320530 20180815 RGD 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease IDA D RGD:13782183|PMID:30066400 20180827 RGD 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease IEP D RGD:13782049|PMID:29174383 20180815 RGD 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:10054257|PMID:1677459 20150731 RGD protein:decreased expression:cerebrospinal fluid: 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:10054258|PMID:11526104 20150731 RGD protein:increased expression:cerebral spinal fluid fluid,brain: 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:10054280|PMID:15201367 20150803 RGD DNA:mutation:p.D678N (human) 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:1497677|PMID:1671712|PMID:1678058|PMID:12192006|PMID:12572668|PMID:12746438|PMID:12852432|PMID:15590663|PMID:15591071|PMID:15993441|PMID:16204253|PMID:16266835|PMID:16325427|PMID:16492752|PMID:16651627|PMID:16969627|PMID:17239395|PMID:17430250|PMID:18583042|PMID:19286555|PMID:19818510|PMID:20111991|PMID:20157255|PMID:20640797|PMID:21157020|PMID:21209907|PMID:21980910|PMID:22507317|PMID:23827522|PMID:25352456|PMID:25714973|PMID:27117003|PMID:27567873|PMID:28448946|PMID:29420472|PMID:30320580 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:1302530|PMID:11520987 20150731 RGD 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:13782044|PMID:29641600 20180815 RGD 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:2290385|PMID:17506994 20200929 RGD human transgene in rat model 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11735772|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12654973|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1307241|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:1634237|PMID:16369530|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16921174|PMID:16931535|PMID:17576681|PMID:17873282|PMID:18187157|PMID:18234110|PMID:18413473|PMID:19061884|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19286555|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20452985|PMID:20523046|PMID:2111584|PMID:21210284|PMID:22312439|PMID:22491860|PMID:22503161|PMID:22801501|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24680827|PMID:24691562|PMID:24878480|PMID:25104557|PMID:25138979|PMID:25174650|PMID:25604855|PMID:25617006|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26242991|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27312774|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31719132|PMID:32087291|PMID:32345996|PMID:32908482|PMID:32917274|PMID:33268848|PMID:7588622|PMID:7611715|PMID:7633445|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8191290|PMID:8290965|PMID:8291572|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9536098|PMID:9754958|PMID:9848098 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736021 D RGD:1599199|PMID:16369530 20070119 RGD 2139 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782047|PMID:29568075 20180815 RGD associated with hypertension 2139 App amyloid beta precursor protein gene DOID:10763 hypertension IEP D RGD:13703136|PMID:29713228 20180803 RGD 2139 App amyloid beta precursor protein gene DOID:10914 amnestic disorder ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12642396 2139 App amyloid beta precursor protein gene DOID:11758 iron deficiency anemia IEP D RGD:2301196|PMID:18723004 20150804 RGD mRNA:decreased expression:hippocampus: 2139 App amyloid beta precursor protein gene DOID:11832 visual epilepsy ISO RGD:736021 D RGD:10054263|PMID:25879152 20150731 RGD associated with Alzheimer Disease; 2139 App amyloid beta precursor protein gene DOID:1289 neurodegenerative disease ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:23541064 2139 App amyloid beta precursor protein gene DOID:1307 dementia ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22300406 2139 App amyloid beta precursor protein gene DOID:14261 fragile X syndrome ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22046307 2139 App amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:10054259|PMID:19101630 20150731 RGD 2139 App amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:10054262|PMID:17536186 20150731 RGD 2139 App amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:17406652|PMID:17600377|PMID:21350020|PMID:24189446|PMID:26945731|PMID:32522471 2139 App amyloid beta precursor protein gene DOID:2030 anxiety disorder ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19664757 2139 App amyloid beta precursor protein gene DOID:319 spinal cord disease ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 2139 App amyloid beta precursor protein gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13782054|PMID:28963051 20180816 RGD 2139 App amyloid beta precursor protein gene DOID:630 genetic disease ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2139 App amyloid beta precursor protein gene DOID:824 periodontitis ISO RGD:736021 D RGD:13801025|PMID:28285126 20181026 RGD mRNA:increased expression:gingiva 2139 App amyloid beta precursor protein gene DOID:8725 vascular dementia ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:22312439|PMID:25104557|PMID:25174650|PMID:25604855|PMID:26242991|PMID:26467025|PMID:27312774|PMID:28492532|PMID:33268848 2139 App amyloid beta precursor protein gene DOID:8927 learning disability ISO RGD:736021 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:16474004|PMID:18533140|PMID:20816828|PMID:22484447|PMID:25213453|PMID:26420483|PMID:27306655|PMID:29729307|PMID:35247505 2139 App amyloid beta precursor protein gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11528419|PMID:12654973|PMID:1303239|PMID:1303275|PMID:1415269|PMID:15365148|PMID:15488330|PMID:15502844|PMID:1679289|PMID:18413473|PMID:19061884|PMID:19363265|PMID:20228223|PMID:20301414|PMID:2111584|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:32087291|PMID:32908482|PMID:8499923|PMID:8610157|PMID:9754958|PMID:9848098 2139 App amyloid beta precursor protein gene DOID:9000998 Brain Injuries ISO RGD:736021 D RGD:10054281|PMID:16300758 20150803 RGD protein:increased expression:hippocampus 2139 App amyloid beta precursor protein gene DOID:9001020 Eye Manifestations ISO RGD:736021 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:35247505 2139 App amyloid beta precursor protein gene DOID:9001111 Blast Injuries IEP D RGD:10054251|PMID:24224042 20150730 RGD 2139 App amyloid beta precursor protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2139 App amyloid beta precursor protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20816828|PMID:25288670 2139 App amyloid beta precursor protein gene DOID:9002644 Premature Aging ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23129026 2139 App amyloid beta precursor protein gene DOID:9002720 Splenomegaly ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 2139 App amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction IEP D RGD:13782057|PMID:28836062 20180817 RGD associated with Chronic Cerebral Hypoperfusion 2139 App amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction IEP D RGD:13782059|PMID:28455102 20180817 RGD associated with Sleep Deprivation 2139 App amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25288670 2139 App amyloid beta precursor protein gene DOID:9002955 Nerve Degeneration ISO RGD:736021 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:11784781|PMID:11800653|PMID:12396081|PMID:12963085|PMID:16951259|PMID:17600377|PMID:19631677|PMID:20111991|PMID:20359466|PMID:23726866|PMID:23827522|PMID:33971107 2139 App amyloid beta precursor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736021 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2139 App amyloid beta precursor protein gene DOID:9004657 Weight Gain ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2139 App amyloid beta precursor protein gene DOID:9005181 Multi-Infarct Dementia ISO RGD:736021 D RGD:10054257|PMID:1677459 20150731 RGD protein:decreased expression:cerebrospinal fluid: 2139 App amyloid beta precursor protein gene DOID:9005246 Paralysis ISO RGD:736021 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:18762355|PMID:21706413|PMID:22952840|PMID:28915354|PMID:33290254|PMID:34902447 2139 App amyloid beta precursor protein gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:736021 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 2139 App amyloid beta precursor protein gene DOID:9005749 Necrosis ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21839817 2139 App amyloid beta precursor protein gene DOID:9005832 Amyloid Plaques ISO RGD:736021 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:19818510|PMID:29729307|PMID:31939705|PMID:33096116 2139 App amyloid beta precursor protein gene DOID:9006118 Amyloid Angiopathy ISO RGD:736021 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:31939705 2139 App amyloid beta precursor protein gene DOID:9006205 Animal Disease Models ISO RGD:736021 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:12746438|PMID:16651627|PMID:25881725|PMID:27567873|PMID:31939705 2139 App amyloid beta precursor protein gene DOID:9006478 Amyloid Neuropathies ISO RGD:736021 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 2139 App amyloid beta precursor protein gene DOID:9006647 Experimental Autoimmune Neuritis treatment IDA D RGD:13782060|PMID:28446186 20180817 RGD 2139 App amyloid beta precursor protein gene DOID:9007402 Gliosis ISO RGD:736021 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 2139 App amyloid beta precursor protein gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:10054250|PMID:11743996 20150730 RGD protein:increased expression:cerebral white matter: 2139 App amyloid beta precursor protein gene DOID:9008023 Memory Disorders ISO RGD:736021 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:15364477|PMID:18191838|PMID:18599028|PMID:19664757|PMID:19770021|PMID:20816828|PMID:22484447|PMID:23827522|PMID:24858312|PMID:25213453|PMID:25881725|PMID:26420483|PMID:26480858|PMID:27306655|PMID:27567873|PMID:28448946|PMID:29729307|PMID:35247505 2139 App amyloid beta precursor protein gene DOID:9009105 HIV Encephalitis ISO RGD:736021 D RGD:13782045|PMID:29632166 20180815 RGD 2139 App amyloid beta precursor protein gene DOID:9120 amyloidosis ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 2139 App amyloid beta precursor protein gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21520056 2139 App amyloid beta precursor protein gene DOID:936 brain disease ISO RGD:736021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 2139 App amyloid beta precursor protein gene DOID:9970 obesity treatment ISO RGD:736021 D RGD:10054260|PMID:19672057 20150731 RGD mRNA,protein:increased expression:adipocyte,plasma: 21408681 CVCL_YP06 FAT 2C1 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21408682 CVCL_YP07 FAT 3 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 21408683 CVCL_YP08 FAT 8 cell line DOID:1749 squamous cell carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60511 2141 Aqp1 aquaporin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:70369 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 2141 Aqp1 aquaporin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2141 Aqp1 aquaporin 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 2141 Aqp1 aquaporin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2307071|PMID:18988797 20090518 RGD mRNA, protein:increased expression, altered location:bile duct, epithelial cell 2141 Aqp1 aquaporin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 2141 Aqp1 aquaporin 1 gene DOID:10763 hypertension IEP D RGD:5148031|PMID:20156423 20110901 RGD 2141 Aqp1 aquaporin 1 gene DOID:10763 hypertension ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2141 Aqp1 aquaporin 1 gene DOID:10908 hydrocephalus disease_progression IEP D RGD:5148011|PMID:21135737 20110901 RGD 2141 Aqp1 aquaporin 1 gene DOID:13141 uveitis IEP D RGD:5148029|PMID:20383338 20110901 RGD 2141 Aqp1 aquaporin 1 gene DOID:14115 toxic shock syndrome ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24028651 2141 Aqp1 aquaporin 1 gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD 2141 Aqp1 aquaporin 1 gene DOID:1824 status epilepticus IEP D RGD:2316077|PMID:19619613 20100125 RGD 2141 Aqp1 aquaporin 1 gene DOID:305 carcinoma ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2141 Aqp1 aquaporin 1 gene DOID:4724 brain edema IEP D RGD:5148033|PMID:21560328 20110901 RGD associated with Anoxia 2141 Aqp1 aquaporin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70369 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2141 Aqp1 aquaporin 1 gene DOID:630 genetic disease ISO RGD:70369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2141 Aqp1 aquaporin 1 gene DOID:636 central pontine myelinolysis ISO RGD:70369 D RGD:8696006|PMID:24252214 20140808 RGD protein:altered expression:basal part of pons: 2141 Aqp1 aquaporin 1 gene DOID:7998 hyperthyroidism ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12621104 2141 Aqp1 aquaporin 1 gene DOID:899 choledochal cyst ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 2141 Aqp1 aquaporin 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2307072|PMID:18248364 20090518 RGD protein:increased expression:spinal cord, neuron, astrocyte 2141 Aqp1 aquaporin 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5148013|PMID:21092735 20110901 RGD 2141 Aqp1 aquaporin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 2141 Aqp1 aquaporin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2141 Aqp1 aquaporin 1 gene DOID:9000641 Pain ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20018876 2141 Aqp1 aquaporin 1 gene DOID:9002860 Cardiac Edema ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22865611 2141 Aqp1 aquaporin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2141 Aqp1 aquaporin 1 gene DOID:9004180 Aquaporin 1 Deficiency ISO RGD:70369 D RGD:7240710 20221130 OMIM 2141 Aqp1 aquaporin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2141 Aqp1 aquaporin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316078|PMID:19596320 20100125 RGD protein:increased expression:retina 2141 Aqp1 aquaporin 1 gene DOID:9351 diabetes mellitus IEP D RGD:2316076|PMID:19748503 20100125 RGD protein:altered localization:retina 2142 Aqp2 aquaporin 2 gene DOID:0050700 cardiomyopathy ISO RGD:70370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 2142 Aqp2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:7240710 20210630 OMIM 2142 Aqp2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11035038|PMID:11076974|PMID:11143979|PMID:11374071|PMID:11536078|PMID:11853799|PMID:11929850|PMID:12050236|PMID:12191971|PMID:14593099|PMID:14599123|PMID:15509592|PMID:16120822|PMID:16199547|PMID:16845277|PMID:17192724|PMID:18431594|PMID:18854434|PMID:19147915|PMID:19293543|PMID:19458121|PMID:20403973|PMID:20711567|PMID:22498392|PMID:22644838|PMID:22778181|PMID:23950570|PMID:24033266|PMID:25741868|PMID:26069764|PMID:26442203|PMID:26467025|PMID:27151922|PMID:27156763|PMID:27641679|PMID:28492532|PMID:30773290|PMID:30784238|PMID:33532864|PMID:7512890|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9302264|PMID:9550615|PMID:9593782|PMID:9649557|PMID:9745427 2142 Aqp2 aquaporin 2 gene DOID:10763 hypertension IEP D RGD:1601242|PMID:16788141 20070411 RGD protein:decreased expression:kidney medulla 2142 Aqp2 aquaporin 2 gene DOID:10763 hypertension IEP D RGD:1601243|PMID:16582573 20070411 RGD protein:increased expression:kidney medulla 2142 Aqp2 aquaporin 2 gene DOID:11111 hydronephrosis ISO RGD:10182 D RGD:2314310|PMID:16641094 20091110 RGD DNA:mutation:exon:g.767C>T(mouse) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus IEP D RGD:2314293|PMID:18296634 20091110 RGD protein:decreased expression:inner renal medulla collecting duct 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:10182 D RGD:2314296|PMID:17229678 20091110 RGD protein:decreased activity:kidney 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:10182 D RGD:2314303|PMID:16968783 20091110 RGD protein:altered localization:kidney 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:10182 D RGD:2314325|PMID:16434568 20091111 RGD DNA:insertions:intron 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:10182 D RGD:734596|PMID:11035038 19990101 RGD 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16121255|PMID:18653713|PMID:18854434|PMID:20374732 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314279|PMID:19701945 20091109 RGD DNA, protein:mutation, altered localization: :p.E258K(human) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314280|PMID:19585583 20091109 RGD DNA,protein:mutation, altered localization: :p.R254Q(human) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314281|PMID:19461158 20091109 RGD DNA, protein:mutation,decreased secretion: :p.S216F(human) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314282|PMID:19458121 20091109 RGD DNA, protein:mutation, altered localization, decreased activity:kidney:p.D150E,G196D(human) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314283|PMID:19293543 20091109 RGD DNA:mutation:exon:c.298G>A,c.374C>T(human) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314285|PMID:19147915 20091109 RGD DNA, protein:mutation, decreased activity::p.V71M (human) 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314292|PMID:18653713 20091110 RGD 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314306|PMID:16845277 20091110 RGD DNA:mutations:exon:multiple 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:2314344|PMID:12191971 20091111 RGD DNA:mutations:multiple:multiple 2142 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11076974|PMID:11143979|PMID:11374071|PMID:14593099|PMID:15509592|PMID:16120822|PMID:16361827|PMID:17192724|PMID:18431594|PMID:18470935|PMID:19458121|PMID:20403973|PMID:22644838|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27156763|PMID:27641679|PMID:28492532|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9550615|PMID:9593782 2142 Aqp2 aquaporin 2 gene DOID:1837 diabetic ketoacidosis ISO RGD:70370 D RGD:2314345|PMID:12021537 20091111 RGD 2142 Aqp2 aquaporin 2 gene DOID:630 genetic disease ISO RGD:70370 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2142 Aqp2 aquaporin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70370 D RGD:2314343|PMID:12218327 20091111 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine 2142 Aqp2 aquaporin 2 gene DOID:9005274 Polyuria IAGP D RGD:2314654|PMID:10919858 20201207 RGD protein:decreased expression:total kidney membrane fraction (rat) 2142 Aqp2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314347|PMID:11380083 20091111 RGD protein:increased expression:Kidney Medulla 2142 Aqp2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10182 D RGD:2314326|PMID:15705184 20091111 RGD protein:decreased expression:kidney collecting duct 2142 Aqp2 aquaporin 2 gene DOID:9409 diabetes insipidus IAGP D RGD:2314654|PMID:10919858 20201207 RGD protein:decreased expression:total kidney membrane fraction (rat) 2143 Aqp4 aquaporin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:10183 D RGD:5148028|PMID:20680099 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:735519 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2143 Aqp4 aquaporin 4 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:735519 D RGD:5148026|PMID:20680636 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:0080743 transverse myelitis ISO RGD:735519 D RGD:5148008|PMID:21771203 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:0080743 transverse myelitis ISO RGD:735519 D RGD:8696028|PMID:23999580 20140811 RGD 2143 Aqp4 aquaporin 4 gene DOID:0080855 Parkinsonism severity ISO RGD:10183 D RGD:5148006|PMID:21255222 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:1059 intellectual disability ISO RGD:735519 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Intellectual disability 2143 Aqp4 aquaporin 4 gene DOID:10652 Alzheimer's disease ISO RGD:735519 D RGD:5148012|PMID:21107133 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:10763 hypertension IEP D RGD:5148031|PMID:20156423 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:10908 hydrocephalus disease_progression IEP D RGD:5148011|PMID:21135737 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:1210 optic neuritis ISO RGD:735519 D RGD:9685553|PMID:22157536 20150119 RGD 2143 Aqp4 aquaporin 4 gene DOID:1210 optic neuritis disease_progression ISO RGD:735519 D RGD:8696036|PMID:23024849 20140811 RGD 2143 Aqp4 aquaporin 4 gene DOID:12236 primary biliary cholangitis IEP D RGD:5148030|PMID:20451280 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:12365 malaria ISS RGD:10183 D RGD:13592920 20180518 MouseDO OMIM:609148 | OMIM:611162 2143 Aqp4 aquaporin 4 gene DOID:12849 autistic disorder ISO RGD:735519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 2143 Aqp4 aquaporin 4 gene DOID:13141 uveitis IEP D RGD:5148029|PMID:20383338 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:13141 uveitis IEP D RGD:5490118|PMID:21724913 20110902 RGD protein:decreased expression:retina 2143 Aqp4 aquaporin 4 gene DOID:14069 cerebral malaria disease_progression ISO RGD:10183 D RGD:8698661|PMID:21904632 20140812 RGD protein:increased expression:astrocyte: 2143 Aqp4 aquaporin 4 gene DOID:1432 blindness ISO RGD:735519 D RGD:8696024|PMID:17702782 20140811 RGD associated with Multiple Sclerosis, Relapsing-Remitting; 2143 Aqp4 aquaporin 4 gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20110902 RGD mRNA:decreased expression:retina 2143 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus IMP D RGD:5148023|PMID:20886625 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:10183 D RGD:8695999|PMID:22361023 20140808 RGD 2143 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:735519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 2143 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus severity ISO RGD:10183 D RGD:8695999|PMID:22361023 20140808 RGD 2143 Aqp4 aquaporin 4 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13207320|PMID:24773551 20170727 RGD 2143 Aqp4 aquaporin 4 gene DOID:2316 brain ischemia IEP D RGD:5490152|PMID:19616516 20110906 RGD 2143 Aqp4 aquaporin 4 gene DOID:3275 thymoma ISO RGD:735519 D RGD:5148025|PMID:20728226 20110901 RGD associated with Myasthenia Gravis 2143 Aqp4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:5490153|PMID:19089902 20110906 RGD mRNA, protein:increased expression:spinal cord 2143 Aqp4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:8662893|PMID:22987392 20140626 RGD protein:increased expression:brainstem 2143 Aqp4 aquaporin 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:735519 D RGD:5148036|PMID:19864112 20110901 RGD DNA:SNPs: :multiple (human) 2143 Aqp4 aquaporin 4 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:8695955|PMID:20815926 20140807 RGD 2143 Aqp4 aquaporin 4 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:155646130|PMID:33127515 20221108 RGD 2143 Aqp4 aquaporin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:735519 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2143 Aqp4 aquaporin 4 gene DOID:4724 brain edema IEP D RGD:5148033|PMID:21560328 20110901 RGD associated with Anoxia 2143 Aqp4 aquaporin 4 gene DOID:4724 brain edema IEP D RGD:5490122|PMID:20720509 20110902 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane 2143 Aqp4 aquaporin 4 gene DOID:4724 brain edema IEP D RGD:5490126|PMID:20541575 20110902 RGD associated with Cerebral Hemorrhage 2143 Aqp4 aquaporin 4 gene DOID:4724 brain edema IEP D RGD:5490129|PMID:20111877 20110902 RGD associated with Embolism, Fat;protein:increased expression:brain 2143 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:5148010|PMID:21187412 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:5148020|PMID:20938728 20110901 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex 2143 Aqp4 aquaporin 4 gene DOID:5679 retinal disease IEP D RGD:5490154|PMID:18836575 20110906 RGD 2143 Aqp4 aquaporin 4 gene DOID:630 genetic disease ISO RGD:735519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2143 Aqp4 aquaporin 4 gene DOID:636 central pontine myelinolysis ISO RGD:735519 D RGD:8696006|PMID:24252214 20140808 RGD protein:altered expression:basal part of pons: 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:10183 D RGD:8695993|PMID:23995423 20140808 RGD 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:10183 D RGD:8696034|PMID:22271321 20140811 RGD 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18509235|PMID:24070676 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:5148024|PMID:16087714 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:5148032|PMID:20047900 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:8696026|PMID:23890015 20140811 RGD 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:8696032|PMID:23116879 20140811 RGD DNA:polymorphism:promoter:-1003A>G(human) 2143 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica disease_progression ISO RGD:735519 D RGD:8696033|PMID:18420727 20140811 RGD associated withHiccup; 2143 Aqp4 aquaporin 4 gene DOID:8947 diabetic retinopathy IMP D RGD:8695996|PMID:22449442 20140808 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5148013|PMID:21092735 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10183 D RGD:5148027|PMID:20517941 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10183 D RGD:5148035|PMID:21280976 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 2143 Aqp4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:10183 D RGD:8698660|PMID:15695511 20140812 RGD protein:increased expression:brain: 2143 Aqp4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:10183 D RGD:8698660|PMID:15695511 20140812 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000307 Presbycusis severity ISO RGD:10183 D RGD:8695953|PMID:19070604 20140807 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:127284879|PMID:33574749 20220117 RGD mRNA:increased expression:brain: 2143 Aqp4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage exacerbates IMP D RGD:127284879|PMID:33574749 20220120 RGD 2143 Aqp4 aquaporin 4 gene DOID:9000998 Brain Injuries IEP D RGD:5148014|PMID:21083433 20110901 RGD protein:increased expression:cerebral cortex 2143 Aqp4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:10183 D RGD:5148034|PMID:21488209 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9002211 Hyperalgesia IEP D RGD:8695957|PMID:16219025 20140807 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: 2143 Aqp4 aquaporin 4 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:11541062|PMID:25545558 20161006 RGD 2143 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10183 D RGD:8696030|PMID:23707078 20140811 RGD 2143 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression IEP D RGD:5490117|PMID:21157915 20110902 RGD 2143 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:10183 D RGD:5148015|PMID:21056916 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10183 D RGD:5490116|PMID:19660138 20110902 RGD 2143 Aqp4 aquaporin 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10183 D RGD:8698664|PMID:17454447 20140812 RGD 2143 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:5148016|PMID:20979759 20110901 RGD protein:increased expression:cerebral cortex 2143 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:5684013|PMID:21718723 20111213 RGD mRNA, protein:increased expression:parietal cortex 2143 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:10183 D RGD:5148022|PMID:20924629 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:10183 D RGD:5148037|PMID:19806476 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8695996|PMID:22449442 20140808 RGD mRNA,protein:increased expression:retina: 2143 Aqp4 aquaporin 4 gene DOID:9005754 Hypoalgesia ISO RGD:10183 D RGD:8696005|PMID:20851747 20140808 RGD 2143 Aqp4 aquaporin 4 gene DOID:9006089 Opticospinal Multiple Sclerosis ISO RGD:735519 D RGD:8698645|PMID:17468440 20140812 RGD 2143 Aqp4 aquaporin 4 gene DOID:9006205 Animal Disease Models ISO RGD:735519 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2143 Aqp4 aquaporin 4 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:2326035|PMID:20216911 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9008681 Deafness ISO RGD:10183 D RGD:734598|PMID:11406631 20140807 RGD 2143 Aqp4 aquaporin 4 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:735519 D RGD:5148012|PMID:21107133 20110901 RGD 2143 Aqp4 aquaporin 4 gene DOID:9282 ocular hypertension ISO RGD:10183 D RGD:8698651|PMID:22943863 20140812 RGD 2143 Aqp4 aquaporin 4 gene DOID:9351 diabetes mellitus IEP D RGD:2316076|PMID:19748503 20110902 RGD 2143 Aqp4 aquaporin 4 gene DOID:9849 Meniere's disease ISO RGD:735519 D RGD:8696022|PMID:20461409 20140811 RGD protein:decreased expression:macula of utricle of membranous labyrinth: 2143 Aqp4 aquaporin 4 gene DOID:9849 Meniere's disease susceptibility ISO RGD:735519 D RGD:8696023|PMID:21063116 20140811 RGD DNA:conservative mutation:cds:c.105G>C(human) 2144 Aqp5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:7240710 20131009 OMIM 2144 Aqp5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type PMID:23830519|PMID:25741868|PMID:27255181|PMID:28492532|PMID:34298581|PMID:7531539 2144 Aqp5 aquaporin 5 gene DOID:10140 dry eye syndrome ISS RGD:10184 D RGD:13592920 20220721 MouseDO 2144 Aqp5 aquaporin 5 gene DOID:11155 hypohidrosis ISO RGD:10184 D RGD:70240|PMID:11773623 19990101 RGD 2144 Aqp5 aquaporin 5 gene DOID:2316 brain ischemia IEP D RGD:5490152|PMID:19616516 20110906 RGD 2144 Aqp5 aquaporin 5 gene DOID:630 genetic disease ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2144 Aqp5 aquaporin 5 gene DOID:9004610 Acute Lung Injury IEP D RGD:11553933|PMID:24806323 20161018 RGD associated with Disseminated Intravascular Coagulation;mRNA,protein:decreased expression:lung: 2144 Aqp5 aquaporin 5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17245593|PMID:17270560 2145 Aqp7 aquaporin 7 gene DOID:0060180 colitis ISO RGD:736375 D RGD:1626292|PMID:15338270 20070730 RGD associated with Infection;mRNA, protein:decreased expression:colon 2145 Aqp7 aquaporin 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 2145 Aqp7 aquaporin 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:736375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 2145 Aqp7 aquaporin 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 2145 Aqp7 aquaporin 7 gene DOID:11981 morbid obesity ISO RGD:736375 D RGD:1626289|PMID:17566090 20070730 RGD mRNA:decreased expression:subcutaneous adipose tissue 2145 Aqp7 aquaporin 7 gene DOID:684 hepatocellular carcinoma ISO RGD:736375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266 2145 Aqp7 aquaporin 7 gene DOID:8577 ulcerative colitis severity ISO RGD:736375 D RGD:1626292|PMID:15338270 20070730 RGD mRNA, protein:decreased expression:colon 2145 Aqp7 aquaporin 7 gene DOID:8778 Crohn's disease severity ISO RGD:736375 D RGD:1626292|PMID:15338270 20070730 RGD mRNA, protein:decreased expression:colon 2145 Aqp7 aquaporin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2145 Aqp7 aquaporin 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736375 D RGD:13782361|PMID:29783856 20180907 RGD protein:increased expression:skeletal muscle: 2145 Aqp7 aquaporin 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2145 Aqp7 aquaporin 7 gene DOID:9870 galactosemia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 2145 Aqp7 aquaporin 7 gene DOID:9970 obesity ISO RGD:736375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16325777 2146 Aqp8 aquaporin 8 gene DOID:2316 brain ischemia IEP D RGD:5490152|PMID:19616516 20110906 RGD 2146 Aqp8 aquaporin 8 gene DOID:630 genetic disease ISO RGD:737411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2147 Ar androgen receptor gene DOID:0050856 oppositional defiant disorder ISO RGD:735652 D RGD:6907129|PMID:10380986 20130930 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes 2147 Ar androgen receptor gene DOID:0060074 ductal carcinoma in situ ISO RGD:735652 D RGD:1643341|PMID:17543076 20071231 RGD 2147 Ar androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:11576241|PMID:8469342 20161230 RGD DNA:repeats:exon 2147 Ar androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:7240710 20160323 OMIM 2147 Ar androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:734599|PMID:2062380 20140219 RGD DNA:mutation,repeats:cds: 2147 Ar androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease PMID:16804045|PMID:25741868|PMID:28492532 2147 Ar androgen receptor gene DOID:0060161 Kennedy's disease treatment ISO RGD:735652 D RGD:11576229|PMID:26942099 20161229 RGD 2147 Ar androgen receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735652 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2147 Ar androgen receptor gene DOID:0070168 spermatogenic failure 3 ISO RGD:735652 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532 2147 Ar androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20200916 OMIM 2147 Ar androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome PMID:10221692|PMID:10485299|PMID:10543676|PMID:10999818|PMID:11788616|PMID:11788673|PMID:1303262|PMID:1430233|PMID:15001585|PMID:15109605|PMID:15925895|PMID:1598912|PMID:16083860|PMID:16450583|PMID:16804045|PMID:20011049|PMID:2010552|PMID:23808476|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25326637|PMID:25741868|PMID:26778393|PMID:27267075|PMID:27854360|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28624954|PMID:2918059|PMID:30668521|PMID:32985417|PMID:33750429|PMID:7581399|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8281139|PMID:8325932|PMID:8446106|PMID:8823308|PMID:8824883|PMID:9345099|PMID:9543136|PMID:9768671|PMID:9851768 2147 Ar androgen receptor gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:735652 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18985049|PMID:24740322|PMID:28500234|PMID:28757136 2147 Ar androgen receptor gene DOID:0090122 aromatase excess syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gynecomastia, familial PMID:16804045|PMID:28492532 2147 Ar androgen receptor gene DOID:0111152 multicentric Castleman disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TAFRO syndrome PMID:16804045|PMID:28492532 2147 Ar androgen receptor gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:735652 D RGD:8554872 20180619 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:25741868 2147 Ar androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:1578687|PMID:12394768 19990101 RGD 2147 Ar androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:2293865|PMID:18158066 20080618 RGD mRNA:decreased expression:prostate gland 2147 Ar androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:7240710 20180418 OMIM 2147 Ar androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10589774|PMID:11103816|PMID:1631125|PMID:1779964|PMID:25741868|PMID:28492532|PMID:7795646|PMID:8530589|PMID:8824883|PMID:9851768 2147 Ar androgen receptor gene DOID:10283 prostate cancer no_association ISO RGD:735652 D RGD:1578686|PMID:15479493 19990101 RGD 2147 Ar androgen receptor gene DOID:10283 prostate cancer treatment IDA D RGD:10043311|PMID:17049844 20150520 RGD 2147 Ar androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:735652 D RGD:10043311|PMID:17049844 20150520 RGD 2147 Ar androgen receptor gene DOID:10763 hypertension IDA D RGD:1601245|PMID:15746697 20070411 RGD 2147 Ar androgen receptor gene DOID:10763 hypertension ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10523385 2147 Ar androgen receptor gene DOID:10763 hypertension treatment IMP D RGD:10043316|PMID:12397037 20150520 RGD 2147 Ar androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:11576230|PMID:23386417 20161229 RGD mRNA:decreased expression:mucosa of urethra 2147 Ar androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:1578685|PMID:15472213 19990101 RGD 2147 Ar androgen receptor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735652 D RGD:6907129|PMID:10380986 20121030 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes 2147 Ar androgen receptor gene DOID:11132 prostatic hypertrophy treatment IMP D RGD:10043335|PMID:22430536 20150521 RGD 2147 Ar androgen receptor gene DOID:11132 prostatic hypertrophy treatment IMP D RGD:10045676|PMID:24872436 20150616 RGD 2147 Ar androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:11576231|PMID:15757859 20161229 RGD DNA:repeats:exon 2147 Ar androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:1578685|PMID:15472213 19990101 RGD 2147 Ar androgen receptor gene DOID:11476 osteoporosis treatment IDA D RGD:10043196|PMID:14600402 20150519 RGD 2147 Ar androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:10187 D RGD:10043198|PMID:18847323 20150519 RGD 2147 Ar androgen receptor gene DOID:11612 polycystic ovary syndrome no_association ISO RGD:735652 D RGD:1578688|PMID:15950642 19990101 RGD 2147 Ar androgen receptor gene DOID:11714 gestational diabetes ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 2147 Ar androgen receptor gene DOID:12336 male infertility ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12220434|PMID:18554162|PMID:20164437 2147 Ar androgen receptor gene DOID:12377 spinal muscular atrophy ISO RGD:735652 D RGD:1578680|PMID:10400640 19990101 RGD 2147 Ar androgen receptor gene DOID:1240 leukemia ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19235587 2147 Ar androgen receptor gene DOID:127 leiomyoma ISO RGD:735652 D RGD:1578690|PMID:15704521 19990101 RGD 2147 Ar androgen receptor gene DOID:12849 autistic disorder ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19167832 2147 Ar androgen receptor gene DOID:12849 autistic disorder ISO RGD:735652 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2147 Ar androgen receptor gene DOID:12995 conduct disorder ISO RGD:735652 D RGD:6907129|PMID:10380986 20121030 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes 2147 Ar androgen receptor gene DOID:1380 endometrial cancer ISO RGD:735652 D RGD:1578689|PMID:15721279 19990101 RGD 2147 Ar androgen receptor gene DOID:14448 46,XY sex reversal ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:11549642|PMID:25741868|PMID:27899157 2147 Ar androgen receptor gene DOID:14499 Fabry disease treatment ISO RGD:10187 D RGD:11576234|PMID:25701874 20161229 RGD 2147 Ar androgen receptor gene DOID:2394 ovarian cancer ISO RGD:735652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 2147 Ar androgen receptor gene DOID:2526 prostate adenocarcinoma treatment IDA D RGD:10043341|PMID:18439064 20150521 RGD 2147 Ar androgen receptor gene DOID:289 endometriosis no_association ISO RGD:735652 D RGD:1578684|PMID:15120698 19990101 RGD 2147 Ar androgen receptor gene DOID:3008 invasive ductal carcinoma severity ISO RGD:735652 D RGD:1643344|PMID:16075292 20071231 RGD 2147 Ar androgen receptor gene DOID:3021 acute kidney failure IEP D RGD:11570523|PMID:24503548 20161221 RGD 2147 Ar androgen receptor gene DOID:3069 malignant astrocytoma ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 2147 Ar androgen receptor gene DOID:3393 coronary artery disease ISO RGD:735652 D RGD:1331525|PMID:15118671 19990101 GAD 2147 Ar androgen receptor gene DOID:3764 Denys-Drash syndrome ISO RGD:10187 D RGD:1643343|PMID:16245160 20071231 RGD protein:decreased expression:sertoli cell 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome IEP D RGD:11571622|PMID:7643075 20161221 RGD protein:altered localization:spinal cord, motor neuron, cytoplasm 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1303262|PMID:8281139 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11571627|PMID:3186717 20161221 RGD DNA:deletion 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11571628|PMID:7970939 20161221 RGD DNA:point mutation, repeats:exon 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11576232|PMID:20888558 20161229 RGD DNA:missense mutation:exon:p.R615S (human) 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11576233|PMID:1424203 20161229 RGD DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human) 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11576235|PMID:8325950 20161229 RGD 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:11576240|PMID:1487249 20161230 RGD DNA:missense mutation:exon:p.M749V (human) 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20130221 OMIM 2147 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency PMID:10022458|PMID:10092153|PMID:10221692|PMID:10221770|PMID:10323251|PMID:10323385|PMID:10359561|PMID:10425033|PMID:10458483|PMID:10571951|PMID:10690872|PMID:10834333|PMID:10840043|PMID:11181525|PMID:11225909|PMID:11376111|PMID:11397856|PMID:11549642|PMID:11579211|PMID:1158706|PMID:11744994|PMID:11788616|PMID:11788645|PMID:11788673|PMID:11889162|PMID:12068007|PMID:12213902|PMID:12466388|PMID:12644579|PMID:12705360|PMID:12843171|PMID:1303262|PMID:1307250|PMID:1430233|PMID:1458719|PMID:14701682|PMID:1480178|PMID:14974091|PMID:1508223|PMID:15109605|PMID:15266301|PMID:15531547|PMID:15541764|PMID:1569163|PMID:15925895|PMID:15963062|PMID:1598912|PMID:16083860|PMID:1609793|PMID:16199547|PMID:16283146|PMID:16365032|PMID:16373394|PMID:16450583|PMID:16470553|PMID:16804045|PMID:17161333|PMID:1720929|PMID:17382127|PMID:1750490|PMID:17576681|PMID:1775137|PMID:17937062|PMID:17970778|PMID:18406699|PMID:18710728|PMID:19463997|PMID:20007693|PMID:20011049|PMID:20056211|PMID:20150575|PMID:20305676|PMID:20493947|PMID:20671138|PMID:2082179|PMID:21520333|PMID:21710452|PMID:21962961|PMID:22334387|PMID:22412043|PMID:22799610|PMID:2293020|PMID:22995991|PMID:23106833|PMID:2332504|PMID:2339702|PMID:23637914|PMID:23774508|PMID:24033266|PMID:24186138|PMID:24321103|PMID:24737579|PMID:24790346|PMID:25241384|PMID:25248670|PMID:25326637|PMID:25433660|PMID:25613104|PMID:25640679|PMID:25674389|PMID:25741868|PMID:2594783|PMID:26303084|PMID:26688387|PMID:26778393|PMID:26806084|PMID:26813233|PMID:26980296|PMID:27051040|PMID:27267075|PMID:27284311|PMID:27403927|PMID:27583472|PMID:27849622|PMID:27854360|PMID:27899157|PMID:27989800|PMID:28186600|PMID:28261839|PMID:28456808|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:28743543|PMID:28857053|PMID:28947719|PMID:29051026|PMID:29758562|PMID:29785970|PMID:30064134|PMID:30113450|PMID:30165367|PMID:30316867|PMID:30401990|PMID:30599484|PMID:30668521|PMID:30815925|PMID:31012339|PMID:31373714|PMID:31429517|PMID:31499074|PMID:3174628|PMID:3186717|PMID:3216866|PMID:32229106|PMID:32345305|PMID:32985417|PMID:33505695|PMID:33514065|PMID:33750429|PMID:33819955|PMID:34276780|PMID:35561789|PMID:4061484|PMID:7537149|PMID:7581399|PMID:7626493|PMID:7633398|PMID:7641413|PMID:7671849|PMID:7723794|PMID:7910529|PMID:7970939|PMID:7981687|PMID:8033918|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8126121|PMID:8162033|PMID:8325932|PMID:8413310|PMID:8450040|PMID:8450042|PMID:8626869|PMID:8647313|PMID:8723113|PMID:8809734|PMID:8824883|PMID:8990010|PMID:9007482|PMID:9039340|PMID:9196614|PMID:9302173|PMID:9328206|PMID:9332480|PMID:9360511|PMID:9463997|PMID:9536098|PMID:9543136|PMID:9544375|PMID:9554754|PMID:9576916|PMID:9627582|PMID:9698822|PMID:9768671|PMID:9788719|PMID:9851768|PMID:9856504 2147 Ar androgen receptor gene DOID:48 male reproductive system disease ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25434310 2147 Ar androgen receptor gene DOID:630 genetic disease ISO RGD:735652 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10359561|PMID:28261839|PMID:28492532 2147 Ar androgen receptor gene DOID:684 hepatocellular carcinoma ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18639551 2147 Ar androgen receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 2147 Ar androgen receptor gene DOID:9000357 Male Breast Neoplasms ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1303262|PMID:8281139 2147 Ar androgen receptor gene DOID:9000357 Male Breast Neoplasms disease_progression ISO RGD:735652 D RGD:1643345|PMID:14555518 20071231 RGD 2147 Ar androgen receptor gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:1631125|PMID:1779964|PMID:28492532|PMID:6541981|PMID:7723794|PMID:7795646|PMID:8187068 2147 Ar androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:7240710 20130221 OMIM 2147 Ar androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked PMID:20305676|PMID:25326637|PMID:25741868|PMID:28261839|PMID:28492532|PMID:29758562|PMID:7981687|PMID:8033918|PMID:8097257|PMID:8683794|PMID:8723113|PMID:9332480 2147 Ar androgen receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735652 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11742035|PMID:12237244|PMID:15389811|PMID:15790600|PMID:16266977|PMID:16877366|PMID:16934689|PMID:16998812|PMID:17003774|PMID:17141945|PMID:18829485|PMID:19011039|PMID:20729295|PMID:22610119|PMID:22666205|PMID:23704919|PMID:25062956|PMID:25735316|PMID:25908785|PMID:25970160|PMID:29610475 2147 Ar androgen receptor gene DOID:9002304 Prostatic Neoplasms onset ISO RGD:10187 D RGD:2293867|PMID:17906287 20080618 RGD 2147 Ar androgen receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735652 D RGD:10043199|PMID:16098017 20150519 RGD DNA:repeat:exon:c.172(CAG)8-34 (human) 2147 Ar androgen receptor gene DOID:9003315 Lubs Syndrome ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism PMID:16804045|PMID:28492532 2147 Ar androgen receptor gene DOID:9003555 Androgen Insensitivity Syndrome due to Coactivator Deficiency ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency PMID:16804045|PMID:28492532 2147 Ar androgen receptor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:735652 D RGD:1578682|PMID:12593895 19990101 RGD 2147 Ar androgen receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11742035 2147 Ar androgen receptor gene DOID:9005172 Lung Neoplasms ISO RGD:735652 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 2147 Ar androgen receptor gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:6482679|PMID:12150826 20181120 RGD 2147 Ar androgen receptor gene DOID:9005539 Familial Prostate Cancer ISO RGD:735652 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:10589774|PMID:11103816|PMID:8530589 2147 Ar androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306774|PMID:16398356 20090505 RGD mRNA, protein:decreased expression:epididymis, prostate gland, testis 2147 Ar androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10187 D RGD:2306772|PMID:18543106 20090505 RGD protein:decreased expression:pancreatic B cell 2147 Ar androgen receptor gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:735652 D RGD:10043197|PMID:14667136 20150519 RGD DNA:repeat:exon:g.6287(CAG)7-34 (human) 2147 Ar androgen receptor gene DOID:9007456 Female Infertility ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 2147 Ar androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21444647 2147 Ar androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:1601244|PMID:17332526 20070411 RGD 2147 Ar androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:2306773|PMID:16793958 20090505 RGD associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG 2147 Ar androgen receptor gene DOID:9008824 Sarcopenia treatment IDA D RGD:10043311|PMID:17049844 20150520 RGD 2147 Ar androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:10187 D RGD:10043306|PMID:24177288 20150520 RGD 2147 Ar androgen receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21633166|PMID:22174584 2147 Ar androgen receptor gene DOID:9352 type 2 diabetes mellitus ISS RGD:10187 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 2147 Ar androgen receptor gene DOID:987 alopecia ISO RGD:735652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15902657 2147 Ar androgen receptor gene DOID:9970 obesity ISO RGD:735652 D RGD:1331525|PMID:15118671 19990101 GAD 2147 Ar androgen receptor gene DOID:9970 obesity ISS RGD:10187 D RGD:13592920 20180518 MouseDO OMIM:601665 2147 Ar androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:1601246|PMID:12532157 20070411 RGD DNA:repeats: :GGN, CAG 2147 Ar androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:2306771|PMID:18805913 20090505 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348364 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1348364 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma disease_progression ISO RGD:1348364 D RGD:13702476|PMID:27852048 20180718 RGD 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348364 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:24569458|PMID:26619011 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1348364 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:24569458|PMID:26619011 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:1348364 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1348364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:1348364 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:24569458|PMID:26619011 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1348364 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 2148 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1348364 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12432273 2149 Areg amphiregulin gene DOID:0060074 ductal carcinoma in situ ISO RGD:1345760 D RGD:2292664|PMID:8543395 20080430 RGD protein:increased expression:breast 2149 Areg amphiregulin gene DOID:0080600 COVID-19 ISO RGD:1345760 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2149 Areg amphiregulin gene DOID:11054 urinary bladder cancer ISO RGD:736382 D RGD:2292662|PMID:11133810 20080430 RGD mRNA:increased expression:urinary bladder 2149 Areg amphiregulin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1345760 D RGD:2292661|PMID:11507076 20080430 RGD mRNA:increased expression:urinary bladder 2149 Areg amphiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 2149 Areg amphiregulin gene DOID:1612 breast cancer ISO RGD:1345760 D RGD:2292658|PMID:16438846 20080430 RGD 2149 Areg amphiregulin gene DOID:1749 squamous cell carcinoma ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11237771 2149 Areg amphiregulin gene DOID:2671 transitional cell carcinoma ISO RGD:1345760 D RGD:2289980|PMID:16469638 20080430 RGD mRNA:increased expression:urinary bladder 2149 Areg amphiregulin gene DOID:2841 asthma ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15696081 2149 Areg amphiregulin gene DOID:289 endometriosis ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 2149 Areg amphiregulin gene DOID:3008 invasive ductal carcinoma ISO RGD:1345760 D RGD:2292660|PMID:11523048 20080430 RGD 2149 Areg amphiregulin gene DOID:3070 high grade glioma IMP D RGD:2292668|PMID:8621257 20080430 RGD 2149 Areg amphiregulin gene DOID:3770 pulmonary fibrosis ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 2149 Areg amphiregulin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427|PMID:16230376 2149 Areg amphiregulin gene DOID:630 genetic disease ISO RGD:1345760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2149 Areg amphiregulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2149 Areg amphiregulin gene DOID:8634 prostate carcinoma in situ ISO RGD:1345760 D RGD:2292659|PMID:14716741 20080430 RGD protein:increased expression:prostate gland 2149 Areg amphiregulin gene DOID:8893 psoriasis ISO RGD:1345760 D RGD:1578719|PMID:15955087 19990101 RGD 2149 Areg amphiregulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:15940630|PMID:16367923 2149 Areg amphiregulin gene DOID:9000403 Animal Mammary Neoplasms IEP D RGD:2292665|PMID:18421211 20080430 RGD mRNA:increased expression:mammary gland 2149 Areg amphiregulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345760 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2149 Areg amphiregulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345760 D RGD:2292659|PMID:14716741 20080430 RGD protein:increased expression:prostate gland 2149 Areg amphiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15313392 2149 Areg amphiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345760 D RGD:1578721|PMID:12370739 19990101 RGD 2149 Areg amphiregulin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345760 D RGD:2289950|PMID:16962163 20080430 RGD mRNA, protein:increased expression:endometrium 2149 Areg amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292665|PMID:18421211 20080430 RGD mRNA:increased expression:mammary gland 2149 Areg amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736382 D RGD:2292663|PMID:10225449 20080430 RGD protein:increased expression:mammary gland 2149 Areg amphiregulin gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 2149 Areg amphiregulin gene DOID:9007102 Myocardial Ischemia ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2149 Areg amphiregulin gene DOID:9008939 Breast Neoplasms ISO RGD:1345760 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11237771 2150 Arg1 arginase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2150 Arg1 arginase 1 gene DOID:0060180 colitis severity ISO RGD:1353986 D RGD:39939041|PMID:28423665 20201023 RGD 2150 Arg1 arginase 1 gene DOID:0080000 muscular disease ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 2150 Arg1 arginase 1 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:736430 D RGD:30309204|PMID:31838832 20200619 RGD mRNA:increased expression:lung 2150 Arg1 arginase 1 gene DOID:0080998 acute necrotizing pancreatitis IDA D RGD:4142795|PMID:20697209 20100910 RGD 2150 Arg1 arginase 1 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1353986 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY PMID:25741868|PMID:28492532 2150 Arg1 arginase 1 gene DOID:10320 asbestosis ISO RGD:1353986 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 2150 Arg1 arginase 1 gene DOID:10325 silicosis IEP D RGD:4143368|PMID:17365572 20100922 RGD mRNA:increased expression:lung (rat) 2150 Arg1 arginase 1 gene DOID:10325 silicosis ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 2150 Arg1 arginase 1 gene DOID:10763 hypertension IEP D RGD:1626296|PMID:17223136 20100922 RGD mRNA:increased expression:aorta (rat) 2150 Arg1 arginase 1 gene DOID:10763 hypertension IMP D RGD:4142834|PMID:18475148 20100914 RGD 2150 Arg1 arginase 1 gene DOID:13141 uveitis IEP D RGD:631755|PMID:12470967 20100901 RGD mRNA, protein:increased expression:eye (rat) 2150 Arg1 arginase 1 gene DOID:13580 cholestasis IEP D RGD:4143230|PMID:15916970 20100920 RGD protein:altered activity:liver (rat) 2150 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19281908|PMID:19800904 2150 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:4143187|PMID:12813022 20100916 RGD mRNA, protein:increased expression:lung, mononuclear cell (human) 2150 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:5129205|PMID:20124949 20110329 RGD DNA:SNP: :rs2781667 (human) 2150 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:736430 D RGD:4143187|PMID:12813022 20100916 RGD mRNA:increased expression:lung (mouse) 2150 Arg1 arginase 1 gene DOID:2914 immune system disease ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 2150 Arg1 arginase 1 gene DOID:3021 acute kidney failure IEP D RGD:631989|PMID:12371970 20100929 RGD mRNA:decreased expression:renal tubule (rat) 2150 Arg1 arginase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1353986 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2150 Arg1 arginase 1 gene DOID:409 liver disease IEP D RGD:1599211|PMID:16872590 20070119 RGD protein:increased expression:serum (rat) 2150 Arg1 arginase 1 gene DOID:421 hair disease ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 2150 Arg1 arginase 1 gene DOID:5199 ureteral obstruction IEP D RGD:4143282|PMID:18552509 20100921 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) 2150 Arg1 arginase 1 gene DOID:630 genetic disease ISO RGD:1353986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:7649538 2150 Arg1 arginase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353986 D RGD:4140476|PMID:17210712 20100831 RGD 2150 Arg1 arginase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353986 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) 2150 Arg1 arginase 1 gene DOID:9001015 Intestinal Fistula IEP D RGD:4144044|PMID:12654563 20100929 RGD mRNA, protein:increased expression:colon (rat) 2150 Arg1 arginase 1 gene DOID:9001443 Hypercapnia IEP D RGD:4143279|PMID:19666777 20100921 RGD protein:decreased expression:lung (rat) 2150 Arg1 arginase 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1626298|PMID:11931836 20100930 RGD mRNA, protein:decreased expression:liver (rat) 2150 Arg1 arginase 1 gene DOID:9001600 Wounds and Injuries IEP D RGD:634666|PMID:12069499 20100930 RGD protein:increased expression:wound, fibroblast (rat) 2150 Arg1 arginase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:13792602|PMID:29741931 20180917 RGD RNA:increased expression:thoracic aorta: 2150 Arg1 arginase 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1353986 D RGD:5129207|PMID:16387594 20110329 RGD DNA:SNPs: :multiple (human) 2150 Arg1 arginase 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4143185|PMID:17023552 20100916 RGD protein:increased expression:serum (rat) 2150 Arg1 arginase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142848|PMID:17967788 20100914 RGD protein:increased expression:aorta, liver (rat) 2150 Arg1 arginase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353986 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2150 Arg1 arginase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22872058 2150 Arg1 arginase 1 gene DOID:9007480 Hyperoxia IEP D RGD:4144054|PMID:9688940 20100930 RGD protein:increased expression:lung (rat) 2150 Arg1 arginase 1 gene DOID:9007692 Insulin Resistance IEP D RGD:4142796|PMID:20593143 20100910 RGD protein:decreased activity:liver (rat) 2150 Arg1 arginase 1 gene DOID:9007874 Liver Failure IEP D RGD:70249|PMID:11779202 20100823 RGD mRNA:increased expression:liver (rat) 2150 Arg1 arginase 1 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1353986 D RGD:13628398|PMID:3369364 20180614 RGD protein:altered expression:liver 2150 Arg1 arginase 1 gene DOID:9065 leishmaniasis ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21232540 2150 Arg1 arginase 1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1353986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 2150 Arg1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:7240710 20130221 OMIM 2150 Arg1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arginase deficiency | ClinVar Annotator: match by term: Argininemia PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:26310552|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29443755|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32778825|PMID:33193012|PMID:3658675|PMID:480013|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 2150 Arg1 arginase 1 gene DOID:9278 hyperargininemia susceptibility ISO RGD:1353986 D RGD:1599208|PMID:7649538 20070119 RGD 2151 Arg2 arginase 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:732329 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 2151 Arg2 arginase 2 gene DOID:10763 hypertension IEP D RGD:1626296|PMID:17223136 20070730 RGD mRNA:increased expression:aorta (rat) 2151 Arg2 arginase 2 gene DOID:10763 hypertension IEP D RGD:4143278|PMID:20039818 20100929 RGD mRNA:increased expression:lung 2151 Arg2 arginase 2 gene DOID:10763 hypertension IMP D RGD:4142834|PMID:18475148 20100914 RGD 2151 Arg2 arginase 2 gene DOID:2841 asthma ISO RGD:732329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19281908 2151 Arg2 arginase 2 gene DOID:2841 asthma ISO RGD:736823 D RGD:4143187|PMID:12813022 20100916 RGD mRNA:increased expression:lung (mouse) 2151 Arg2 arginase 2 gene DOID:2841 asthma severity ISO RGD:732329 D RGD:5129205|PMID:20124949 20110329 RGD DNA:SNP: :rs3742879, rs17249437 (human) 2151 Arg2 arginase 2 gene DOID:2841 asthma susceptibility ISO RGD:732329 D RGD:5129207|PMID:16387594 20110329 RGD DNA:SNPs (human) 2151 Arg2 arginase 2 gene DOID:3021 acute kidney failure IEP D RGD:631989|PMID:12371970 20100929 RGD mRNA:decreased expression:renal tubule (rat) 2151 Arg2 arginase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 2151 Arg2 arginase 2 gene DOID:5199 ureteral obstruction IEP D RGD:4143282|PMID:18552509 20100921 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) 2151 Arg2 arginase 2 gene DOID:6000 congestive heart failure ISO RGD:732329 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2151 Arg2 arginase 2 gene DOID:630 genetic disease ISO RGD:732329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2151 Arg2 arginase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24951775 2151 Arg2 arginase 2 gene DOID:783 end stage renal disease IEP D RGD:4110828|PMID:16809898 20100818 RGD protein:decreased activity:kidney (rat) 2151 Arg2 arginase 2 gene DOID:8466 retinal degeneration ISO RGD:732329 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 2151 Arg2 arginase 2 gene DOID:9000918 Disease Progression ISO RGD:732329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 2151 Arg2 arginase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1626298|PMID:11931836 20070730 RGD mRNA, protein:increased expression:liver 2151 Arg2 arginase 2 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:4143274|PMID:20699748 20100921 RGD protein:increased expression:aorta (rat) 2151 Arg2 arginase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736823 D RGD:6902923|PMID:21926276 20120924 RGD 2151 Arg2 arginase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 2151 Arg2 arginase 2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:732329 D RGD:5129207|PMID:16387594 20110329 RGD DNA:SNP (human) 2151 Arg2 arginase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732329 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 2151 Arg2 arginase 2 gene DOID:9004484 Sepsis IEP D RGD:1626297|PMID:9635249 20070730 RGD protein:decreased expression:lung 2151 Arg2 arginase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4143269|PMID:12841630 20100921 RGD protein:increased activity:kidney (rat) 2151 Arg2 arginase 2 gene DOID:9005749 Necrosis ISO RGD:732329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 2151 Arg2 arginase 2 gene DOID:9007480 Hyperoxia IEP D RGD:4144054|PMID:9688940 20100930 RGD protein:increased expression:lung (rat) 2151 Arg2 arginase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:732329 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 2152 Arl4a ADP-ribosylation factor like GTPase 4A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604399 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2152 Arl4a ADP-ribosylation factor like GTPase 4A gene DOID:630 genetic disease ISO RGD:1604399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:0111940 immunodeficiency 42 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:1540 parathyroid carcinoma ISO RGD:732739 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:1909 melanoma ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:289 endometriosis ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:4450 renal cell carcinoma treatment ISO RGD:732739 D RGD:13503335|PMID:27595394 20180111 RGD DNA:missense mutation: :pF446L (human) 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:5082 liver cirrhosis ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:5812 MHC class II deficiency ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:630 genetic disease ISO RGD:732739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9002170 Experimental Neoplasms ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9003281 Spontaneous Abortions ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20935161 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9008443 Colorectal Neoplasms ISO RGD:732739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732739 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9352 type 2 diabetes mellitus ISO RGD:732739 D RGD:2313995|PMID:16096055 20091030 RGD mRNA:decreased expression:pancreatic islet 2153 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732739 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0050726 tyrosinemia type I ISO RGD:736413 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0060224 atrial fibrillation ISO RGD:736413 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:2717 Bloom syndrome ISO RGD:736413 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:630 genetic disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:7240710 20200226 OMIM 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Webb-Dattani syndrome PMID:24022475|PMID:25741868|PMID:28492532 2154 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9256 colorectal cancer ISO RGD:736413 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736395 D RGD:11046268|PMID:26138391 20160404 RGD protein:increased expression:oral mucosa (human) 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736395 D RGD:11046272|PMID:22608605 20160404 RGD 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:0111962 combined immunodeficiency ISO RGD:736395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:32499645 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:7240710 20190315 OMIM 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PMID:17576681|PMID:25741868|PMID:28368018|PMID:28492532|PMID:29127144|PMID:30254128|PMID:32499645|PMID:33679784|PMID:9536098 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:10534 stomach cancer ISO RGD:736395 D RGD:11046270|PMID:15279900 20160404 RGD mRNA:decreased expression:gastric epithelium (human) 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:2213 hemorrhagic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:4029 gastritis ISO RGD:736395 D RGD:11046273|PMID:23292007 20160404 RGD DNA:hypermethylation:promoter: (human) 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736395 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:5419 schizophrenia ISO RGD:736395 D RGD:11571619|PMID:15098003 20161221 RGD protein:decreased expression:prefrontal cortex (human) 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:612 primary immunodeficiency disease ISO RGD:736395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:630 genetic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2155 Arpc1b actin related protein 2/3 complex, subunit 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2156 Arrb1 arrestin, beta 1 gene DOID:0060180 colitis IEP D RGD:5509893|PMID:21066892 20111110 RGD protein:increased expression:colon (rat) 2156 Arrb1 arrestin, beta 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732370 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 2156 Arrb1 arrestin, beta 1 gene DOID:1059 intellectual disability ISO RGD:732370 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2156 Arrb1 arrestin, beta 1 gene DOID:1470 major depressive disorder severity ISO RGD:732370 D RGD:1578803|PMID:15514408 20180129 RGD protein:decreased expression:blood, mononuclear cell 2156 Arrb1 arrestin, beta 1 gene DOID:5082 liver cirrhosis ISO RGD:732370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 2156 Arrb1 arrestin, beta 1 gene DOID:6000 congestive heart failure treatment IMP D RGD:5509888|PMID:21232674 20111110 RGD 2156 Arrb1 arrestin, beta 1 gene DOID:630 genetic disease ISO RGD:732370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2156 Arrb1 arrestin, beta 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:5509895|PMID:20965243 20111110 RGD protein:increased expression:knee, synoviocyte (rat) 2156 Arrb1 arrestin, beta 1 gene DOID:9004283 Transplant Rejection IEP D RGD:13506894|PMID:21193245 20180221 RGD mRNA:decreased expression:blood, leukocyte 2156 Arrb1 arrestin, beta 1 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:5509867|PMID:22015551 20111109 RGD mRNA, protein:altered expression:left ventricle (rat) 2157 Arrb2 arrestin, beta 2 gene DOID:0050855 renal fibrosis ISO RGD:10192 D RGD:13506828|PMID:28274926 20180220 RGD associated with ureteral obstruction;mRNA, protein:increased expression:kidney 2157 Arrb2 arrestin, beta 2 gene DOID:10762 portal hypertension ISO RGD:731570 D RGD:13506901|PMID:24337852 20180221 RGD associated with Liver Cirrhosis;protein:increased expression:mesenteric artery 2157 Arrb2 arrestin, beta 2 gene DOID:10762 portal hypertension treatment IEP D RGD:13506899|PMID:24719556 20180221 RGD associated with Liver Cirrhosis, Experimental 2157 Arrb2 arrestin, beta 2 gene DOID:10763 hypertension IEP D RGD:13506896|PMID:27861247 20180221 RGD protein:decreased expression:rostral ventrolateral medulla 2157 Arrb2 arrestin, beta 2 gene DOID:630 genetic disease ISO RGD:731570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2157 Arrb2 arrestin, beta 2 gene DOID:670 amphetamine abuse ISO RGD:731570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17233643 2157 Arrb2 arrestin, beta 2 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 2157 Arrb2 arrestin, beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2157 Arrb2 arrestin, beta 2 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:5509890|PMID:21167192 20111110 RGD mRNA, protein:increased expression:liver (rat) 2157 Arrb2 arrestin, beta 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:5509895|PMID:20965243 20111110 RGD protein:increased expression:knee, synoviocyte (rat) 2157 Arrb2 arrestin, beta 2 gene DOID:9004283 Transplant Rejection IEP D RGD:13506894|PMID:21193245 20180221 RGD mRNA, protein:decreased expression:blood, leukocyte, monocyte 2157 Arrb2 arrestin, beta 2 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:5509867|PMID:22015551 20111109 RGD mRNA, protein:altered expression:left ventricle (rat) 2157 Arrb2 arrestin, beta 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13506827|PMID:29016703 20180220 RGD 2157 Arrb2 arrestin, beta 2 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:13506901|PMID:24337852 20180221 RGD 2158 Arsb arylsulfatase B gene DOID:0060041 autism spectrum disorder ISO RGD:737370 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2158 Arsb arylsulfatase B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:737370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 2158 Arsb arylsulfatase B gene DOID:10581 metachromatic leukodystrophy ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10923267|PMID:11939792|PMID:14974081|PMID:1550123|PMID:16435196|PMID:17458871|PMID:17643332|PMID:18406185|PMID:21514195|PMID:21791832|PMID:21917494|PMID:22133300|PMID:22441840|PMID:23557332|PMID:23657977|PMID:24221504|PMID:24373060|PMID:24767253|PMID:25741868|PMID:28492532|PMID:30118150|PMID:8116615|PMID:8651289 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI IAGP D RGD:631738|PMID:8575749 20170317 RGD DNA:mutation:cds:507InsC(rat) 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17458871 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:7240710 20130221 OMIM 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe PMID:10036316|PMID:10206678|PMID:10738004|PMID:10923267|PMID:11668612|PMID:11802522|PMID:11939792|PMID:1301949|PMID:14974081|PMID:15000815|PMID:1550123|PMID:15603718|PMID:15979036|PMID:16199547|PMID:16435196|PMID:16949067|PMID:17161971|PMID:1718978|PMID:17458871|PMID:17576681|PMID:17643332|PMID:17672828|PMID:18406185|PMID:18486607|PMID:19259130|PMID:19763152|PMID:19968667|PMID:20143913|PMID:20307669|PMID:21514195|PMID:21791831|PMID:21791832|PMID:21813902|PMID:21917494|PMID:21930407|PMID:21996138|PMID:22133300|PMID:22406018|PMID:22441840|PMID:22971959|PMID:22976768|PMID:23023219|PMID:23430861|PMID:23458163|PMID:23557332|PMID:23633437|PMID:23657977|PMID:23855929|PMID:23949968|PMID:24033266|PMID:24053568|PMID:24107440|PMID:24221504|PMID:24243352|PMID:24262793|PMID:24373060|PMID:24677745|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25190157|PMID:25640679|PMID:25654180|PMID:25741868|PMID:25797215|PMID:26287674|PMID:26450354|PMID:26609033|PMID:26909334|PMID:26910003|PMID:26937411|PMID:27797586|PMID:27826022|PMID:28492532|PMID:28552677|PMID:28649537|PMID:28858097|PMID:28884960|PMID:28914427|PMID:29202552|PMID:30083803|PMID:30118150|PMID:30524696|PMID:30809705|PMID:30982216|PMID:31009684|PMID:32075597|PMID:32860008|PMID:33163362|PMID:33673364|PMID:4974081|PMID:7733883|PMID:8116615|PMID:8125475|PMID:8144552|PMID:8541342|PMID:8651289|PMID:8723688|PMID:8752530|PMID:9536098 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility IAGP D RGD:631738|PMID:8575749 20070122 RGD 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:737370 D RGD:1599228|PMID:1550123 20170628 RGD 2158 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI treatment IAGP D RGD:39131283|PMID:21887218 20200930 RGD 2158 Arsb arylsulfatase B gene DOID:5419 schizophrenia ISO RGD:737370 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2158 Arsb arylsulfatase B gene DOID:630 genetic disease ISO RGD:737370 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17458871|PMID:23557332|PMID:25741868|PMID:28492532|PMID:28552677|PMID:30118150 2158 Arsb arylsulfatase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737370 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735625 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735625 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2159 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 2160 Asgr1 asialoglycoprotein receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:737103 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2160 Asgr1 asialoglycoprotein receptor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:737103 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 2160 Asgr1 asialoglycoprotein receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:737103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 2160 Asgr1 asialoglycoprotein receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:737103 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2160 Asgr1 asialoglycoprotein receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:737103 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2160 Asgr1 asialoglycoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:737103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343618 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343618 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1343618 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343618 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343618 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2161 Asgr2 asialoglycoprotein receptor 2 gene DOID:630 genetic disease ISO RGD:1343618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343754 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:630 genetic disease ISO RGD:1343754 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24139043|PMID:25741868|PMID:26395554|PMID:27422383|PMID:27522229|PMID:28492532|PMID:29405484|PMID:30057589|PMID:32255274|PMID:9536098 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:684 hepatocellular carcinoma IEP D RGD:2316006|PMID:10081 20100121 RGD protein:increased activity:serum (rat) 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1343754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9002524 Asparagine Synthetase Deficiency ISO RGD:1343754 D RGD:7240710 20140911 OMIM 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9002524 Asparagine Synthetase Deficiency ISO RGD:1343754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: Asparagine synthetase deficiency PMID:16199547|PMID:24139043|PMID:25227173|PMID:25663424|PMID:25741868|PMID:25758715|PMID:26395554|PMID:27422383|PMID:27469131|PMID:27522229|PMID:27711071|PMID:28492532|PMID:28776279|PMID:29279279|PMID:29302074|PMID:29375865|PMID:29405484|PMID:30057589|PMID:30214071|PMID:30978478|PMID:31130284|PMID:32255274|PMID:32741967|PMID:32906196|PMID:33258288|PMID:33287870|PMID:34582790|PMID:34906502 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:27522229|PMID:28492532 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9007188 Liver Neoplasms ISO RGD:1343754 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 2162 Asns asparagine synthetase (glutamine-hydrolyzing) gene DOID:9455 lipid storage disease ISO RGD:1343754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 2163 Ass1 argininosuccinate synthase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2163 Ass1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:7240710 20200228 OMIM 2163 Ass1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:32778825|PMID:32860008|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 2163 Ass1 argininosuccinate synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736136 D RGD:4139898|PMID:11556547 20100823 RGD protein:increased expression:brain, glial cell (human) 2163 Ass1 argininosuccinate synthase 1 gene DOID:11713 diabetic angiopathy ISO RGD:736136 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25033204 2163 Ass1 argininosuccinate synthase 1 gene DOID:13141 uveitis IEP D RGD:631755|PMID:12470967 20100901 RGD mRNA, protein:increased expression:eye (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:1909 melanoma ISO RGD:736136 D RGD:4140479|PMID:12359751 20100831 RGD 2163 Ass1 argininosuccinate synthase 1 gene DOID:409 liver disease ISO RGD:736136 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 2163 Ass1 argininosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11708871|PMID:11941481|PMID:12815590|PMID:16475226|PMID:17576681|PMID:18473344|PMID:19006241|PMID:19358837|PMID:19684305|PMID:20005624|PMID:20818742|PMID:23246278|PMID:23430935|PMID:2358466|PMID:25433810|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9536098 2163 Ass1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736136 D RGD:4140479|PMID:12359751 20100831 RGD 2163 Ass1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736136 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:4140452|PMID:19914391 20100830 RGD mRNA:decreased expression:liver (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9002669 Hypoxia IEP D RGD:4110824|PMID:20567615 20100818 RGD protein:increased activity:brain (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9004009 Reperfusion Injury resistance IEP D RGD:1599263|PMID:17198704 20070130 RGD protein:increased expression:brain, neuron (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736136 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 2163 Ass1 argininosuccinate synthase 1 gene DOID:9004713 Acute-Phase Reaction IEP D RGD:1599305|PMID:15698416 20070130 RGD 2163 Ass1 argininosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599310|PMID:11384198 20070130 RGD mRNA, protein:increased expression:aorta (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9005930 Endotoxemia IEP D RGD:1599265|PMID:10652239 20070130 RGD 2163 Ass1 argininosuccinate synthase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions IEP D RGD:4140449|PMID:20544730 20100830 RGD protein:increased expression:plasma (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9007480 Hyperoxia IEP D RGD:4142785|PMID:20805789 20100908 RGD protein:increased expression:lung (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9007874 Liver Failure IEP D RGD:70249|PMID:11779202 20100823 RGD mRNA:increased expression:liver (rat) 2163 Ass1 argininosuccinate synthase 1 gene DOID:9008972 Hyperammonemia IEP D RGD:1599267|PMID:10353334 20070130 RGD 2163 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism 2163 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 2163 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 2163 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 2163 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia susceptibility ISO RGD:736136 D RGD:1599301|PMID:7557970 20070129 RGD 2165 Atf3 activating transcription factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25136830 2165 Atf3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:10198 D RGD:13506817|PMID:26522727 20180220 RGD 2165 Atf3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735760 D RGD:13506817|PMID:26522727 20180220 RGD 2165 Atf3 activating transcription factor 3 gene DOID:10283 prostate cancer treatment ISO RGD:735760 D RGD:13506816|PMID:26944919 20180220 RGD 2165 Atf3 activating transcription factor 3 gene DOID:10892 hypospadias ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18001166 2165 Atf3 activating transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735760 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2165 Atf3 activating transcription factor 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735760 D RGD:34888225|PMID:20856677 20200702 RGD mRNA,protein:increased expression:lung 2165 Atf3 activating transcription factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 2165 Atf3 activating transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 2165 Atf3 activating transcription factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 2165 Atf3 activating transcription factor 3 gene DOID:630 genetic disease ISO RGD:735760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2165 Atf3 activating transcription factor 3 gene DOID:863 nervous system disease ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18701217|PMID:18754875 2165 Atf3 activating transcription factor 3 gene DOID:9001488 Human Influenza ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 2165 Atf3 activating transcription factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2165 Atf3 activating transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16516039 2165 Atf3 activating transcription factor 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15674352 2165 Atf3 activating transcription factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:735760 D RGD:7327201|PMID:11485922 20180326 RGD 2165 Atf3 activating transcription factor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2165 Atf3 activating transcription factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:735760 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 2165 Atf3 activating transcription factor 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735760 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:34364923 2165 Atf3 activating transcription factor 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7327201|PMID:11485922 20180326 RGD 2165 Atf3 activating transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735760 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2165 Atf3 activating transcription factor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:735332 D RGD:8554872 20150211 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:7240710 20190315 OMIM 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31705535|PMID:31707753 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10003 sensorineural hearing loss IEP D RGD:7349365|PMID:23827367 20130923 RGD protein:decreased expression:cochlea: 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:735332 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:735332 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension IAGP D RGD:1579862|PMID:8082931 19990101 RGD 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:735332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:3426 vestibular disease ISO RGD:735332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:446 primary hyperaldosteronism ISO RGD:735332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:735332 D RGD:11554173 20180828 CTD CTD Direct Evidence: therapeutic PMID:29702141 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:630 genetic disease ISO RGD:735332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:657 adenoma ISO RGD:735332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23416519|PMID:23913004 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:7240710 20190315 OMIM 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 PMID:25741868|PMID:28492532|PMID:30388404 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735332 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735332 D RGD:11554173 20180828 CTD CTD Direct Evidence: therapeutic PMID:29702141 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9008817 Transmissible Gastroenteritis, of Swine ISO RGD:735332 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28438630 2167 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9279 hyperhomocysteinemia IEP D RGD:11576285|PMID:23467881 20170103 RGD protein:decreased expression:cerebral cortex 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:736008 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:736008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:25741868|PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050952 spastic ataxia ISO RGD:736008 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0060178 familial hemiplegic migraine ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:11439943|PMID:12023326|PMID:12539047|PMID:14667076|PMID:15159495|PMID:15174025|PMID:15286158|PMID:15459825|PMID:16088919|PMID:16110494|PMID:16199547|PMID:16344534|PMID:16437583|PMID:16538223|PMID:17142831|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18498390|PMID:18644608|PMID:18728015|PMID:18957371|PMID:19372756|PMID:19458722|PMID:19874388|PMID:20301562|PMID:20720542|PMID:20837964|PMID:21352219|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:23838748|PMID:23954377|PMID:24396618|PMID:24498617|PMID:24704353|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27226003|PMID:27790126|PMID:27864847|PMID:28492532|PMID:28717674|PMID:28811059|PMID:29062094|PMID:29343472|PMID:29778030|PMID:29867740|PMID:29956301|PMID:30185235|PMID:30690204|PMID:31737037|PMID:33794876|PMID:34384358|PMID:9536098 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0060484 EAST syndrome ISO RGD:736008 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:736008 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:31608932 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736008 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954377 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:7240710 20160511 OMIM 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:12539047|PMID:12953268|PMID:15133718|PMID:15159495|PMID:15174025|PMID:15308625|PMID:15459825|PMID:16037212|PMID:16088919|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19372756|PMID:20301562|PMID:20720542|PMID:21172953|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:24704353|PMID:25138102|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27790126|PMID:27818813|PMID:28492532|PMID:29413639|PMID:29904856|PMID:33880529|PMID:34384358|PMID:9536098|PMID:9579893 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10024 migraine with aura ISO RGD:736008 D RGD:1358436|PMID:12953268 19990101 RGD 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension IEP D RGD:1601253|PMID:11768735 20070411 RGD protein:decreased expression:adrenal gland cortex zone 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:10206 D RGD:1601251|PMID:16243970 20070411 RGD 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:736008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16166162|PMID:16243970 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension susceptibility ISO RGD:736008 D RGD:1601254|PMID:11257061 20070411 RGD 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10969 hemiplegia ISO RGD:736008 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:25741868|PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:14264 benign neonatal seizures ISO RGD:736008 D RGD:1358436|PMID:12953268 19990101 RGD 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:736008 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:1826 epilepsy ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18644608|PMID:24921013|PMID:25741868|PMID:28492532|PMID:30690204 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15174025|PMID:16088919|PMID:16538223|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19458722|PMID:21172953|PMID:22117059|PMID:23954377|PMID:24396618|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27226003|PMID:27818813|PMID:28492532|PMID:29062094|PMID:29413639|PMID:29778030|PMID:29867740|PMID:29904856|PMID:29956301|PMID:34384358|PMID:9536098 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9000945 Ventilator-Induced Lung Injury IMP D RGD:6903342|PMID:18424620 20121002 RGD 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001342 Developmental and Epileptic Encephalopathy 98 ISO RGD:736008 D RGD:7240710 20211201 OMIM 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001342 Developmental and Epileptic Encephalopathy 98 ISO RGD:736008 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 PMID:15159495|PMID:15174025|PMID:17877748|PMID:18028456|PMID:18056581|PMID:18414213|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33880529 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16538223|PMID:17473835|PMID:22117059|PMID:25741868|PMID:28492532|PMID:34384358 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:7240710 20220209 OMIM 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies PMID:15174025|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30690204|PMID:31608932 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9002079 Paresis ISO RGD:736008 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:30311386 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9003936 Cardiomegaly IDA D RGD:6903354|PMID:15644428 20121002 RGD 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9005462 Familial Basilar Migraine ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine, familial basilar PMID:16344534|PMID:18498390|PMID:23954377|PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:736008 D RGD:1601252|PMID:14576983 20070411 RGD mRNA:increased expression:skeletal muscle 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:7240710 20190320 OMIM 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:11439943|PMID:12023326|PMID:14667076|PMID:15174025|PMID:15286158|PMID:16437583|PMID:17473835|PMID:17576681|PMID:17877748|PMID:18056581|PMID:18414213|PMID:18957371|PMID:19874388|PMID:20837964|PMID:21533730|PMID:24921013|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28717674|PMID:30423015|PMID:31737037|PMID:34384358|PMID:9536098 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736008 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9279 hyperhomocysteinemia IEP D RGD:11576285|PMID:23467881 20170103 RGD protein:decreased expression:cerebral cortex 2168 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9970 obesity susceptibility ISO RGD:10206 D RGD:1601250|PMID:16286513 20070411 RGD 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842232|PMID:24631656 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:732644 D RGD:11576279|PMID:24431296 20170103 RGD DNA:missense mutations:exon:multiple 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:732644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:24033266|PMID:25741868 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050835 generalized dystonia ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24088041|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050842 oculogyric crisis ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogyric crisis PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050888 syndromic intellectual disability ISO RGD:732644 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732644 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732644 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0080855 Parkinsonism ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15260953 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:11055714|PMID:25359261 20161230 RGD DNA:deletion:exon:p.S148del, c.443_445delGAG (human) 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15260953|PMID:24631656 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:7240710 20130221 OMIM 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30283815|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10485 esophageal atresia ISO RGD:732644 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:732644 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10908 hydrocephalus ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10969 hemiplegia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30657467 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:12835 quadriplegia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Quadriparesis PMID:15260953|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:32581362 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1826 epilepsy ISO RGD:732644 D RGD:11576281|PMID:25656163 20170103 RGD DNA:missense mutations: :p.G358V (c.1073G>T), p.I363N (c.1088T>A) (human) 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1826 epilepsy ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26297560|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2340 craniosynostosis ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2468 psychotic disorder ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset psychosis PMID:25741868|PMID:27626066 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:732644 D RGD:1358437|PMID:9646882 19990101 RGD 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISS RGD:10207 D RGD:13592920 20180518 MouseDO 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:5419 schizophrenia ISO RGD:732644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:543 dystonia ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15260953 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:543 dystonia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:6000 congestive heart failure ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14499619|PMID:15260953|PMID:15364580|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:25056583|PMID:25523819|PMID:25624492|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26633545|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29913018|PMID:29915382|PMID:30071271|PMID:31425744|PMID:31616254|PMID:31618474|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:5996915|PMID:8733056 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:8398 osteoarthritis ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:732644 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001126 Developmental and Epileptic Encephalopathy 99 ISO RGD:732644 D RGD:7240710 20211201 OMIM 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001126 Developmental and Epileptic Encephalopathy 99 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 99 PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26467025|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362|PMID:33880529 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:7240710 20140903 OMIM 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 PMID:11061257|PMID:12112218|PMID:15260953|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25447930|PMID:25523819|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29915382|PMID:30071271|PMID:30657467|PMID:31425744|PMID:31616254|PMID:31942761|PMID:32454213|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056|PMID:9536098 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:732644 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:11576280|PMID:24468074 20170103 RGD DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:7240710 20171011 OMIM 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss PMID:15260953|PMID:18414213|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24996492|PMID:25056583|PMID:25326637|PMID:25447930|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28708303|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29305691|PMID:29397530|PMID:30071271|PMID:30657467|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008675 Dyskinesias ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9009131 Ventriculomegaly ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 2169 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9269 maple syrup urine disease ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10003 sensorineural hearing loss IEP D RGD:7349365|PMID:23827367 20130923 RGD protein:decreased expression:cochlea: 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10825 essential hypertension ISO RGD:735774 D RGD:7240710 20130221 OMIM 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735774 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:303 substance-related disorder ISO RGD:735774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:630 genetic disease ISO RGD:735774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735774 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:735774 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735774 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2170 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735774 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0050753 cerebellar ataxia ISO RGD:12374603 D RGD:9068941 20210604 OMIA Ataxia, cerebellar, ATP1B2-related PMID:28620085 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736555 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:12177 common variable immunodeficiency ISO RGD:736555 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:736555 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:2729 dyskeratosis congenita ISO RGD:736555 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3070 high grade glioma ISO RGD:736555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736555 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 2171 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:630 genetic disease ISO RGD:736555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2172 Atp1b3 ATPase Na+/K+ transporting subunit beta 3 gene DOID:630 genetic disease ISO RGD:733031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1342669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11062458 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:1598986|PMID:11062458 20070110 RGD DNA:missense mutation:cds:p.G41R (human) 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:7240710 20130221 OMIM 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2 PMID:11062458|PMID:11929868|PMID:12763860|PMID:17576681|PMID:25741868|PMID:25765846|PMID:28492532|PMID:3298795|PMID:9536098 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0080690 RASopathy ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:1059 intellectual disability ISO RGD:1342669 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:10763 hypertension ISO RGD:1342669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:630 genetic disease ISO RGD:1342669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342669 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2173 Fxyd2 FXYD domain-containing ion transport regulator 2 gene DOID:9007661 Dwarfism ISO RGD:1342669 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:7240710 20180808 OMIM 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf PMID:12542527|PMID:20518781|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:10825 essential hypertension susceptibility ISO RGD:731733 D RGD:13507310|PMID:20687374 20180228 RGD DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease IEP D RGD:7327178|PMID:23458196 20180821 RGD associated with Metabolic Syndrome X 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19328205 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 IDA D RGD:13782087|PMID:23997093 20180820 RGD protein:increased oxidation:cardiac muscle cell 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1459 hypothyroidism IEP D RGD:6904140|PMID:21217071 20121010 RGD mRNA:decreased expression:heart left ventricle 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1824 status epilepticus ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15288437 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16733453|PMID:20338123 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:7240710 20130221 OMIM 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:734619|PMID:10080178 19990101 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratosis follicularis PMID:10080178|PMID:10441323|PMID:10441324|PMID:10441325|PMID:11168576|PMID:11244492|PMID:12072062|PMID:19216760|PMID:20423818|PMID:21519848|PMID:23356892|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30345710 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2856 euthyroid sick syndrome treatment IEP D RGD:13782084|PMID:27737323 20180820 RGD associated with congestive heart failure 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure IDA D RGD:6903963|PMID:21691940 20121009 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension IEP D RGD:13782086|PMID:27144451 20180820 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:731733 D RGD:13782089|PMID:23804254 20180821 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13782071|PMID:21930674 20180817 RGD protein:decreased expression:tail, skeletal muscle 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001636 Darier Disease, Segmental ISO RGD:731733 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Darier disease, segmental PMID:11121153 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21217071 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001956 Darier Disease, Acral Hemorrhagic Type ISO RGD:731733 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type PMID:10441324|PMID:25741868 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9002514 Neointima treatment ISO RGD:731733 D RGD:13782090|PMID:23535897 20180821 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11679415 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly treatment IDA D RGD:13782078|PMID:29792884 20180820 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:731733 D RGD:13507307|PMID:24048583 20180228 RGD associated with heart failure;DNA:SNP: :rs186056(human) 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:6904139|PMID:21300842 20121010 RGD protein:increased carbonylation:heart 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:12910731|PMID:28483572 20180817 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13782130|PMID:20122173 20180822 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005725 Iron Overload IDA D RGD:13782085|PMID:27222135 20180820 RGD associated with type 2 diabetes mellitus 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:6771209|PMID:21441944 20121009 RGD associated with Diabetes Mellitus, Experimental 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007346 Cachexia IEP D RGD:13782066|PMID:23200745 20180817 RGD associated with hepatocellular carcinoma 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007558 Acute Experimental Pancreatitis treatment IEP D RGD:13782074|PMID:18416460 20180817 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782080|PMID:28637456 20180820 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13782085|PMID:27222135 20180820 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:6771327|PMID:22009485 20180817 RGD 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:6892953|PMID:21216827 20121010 RGD mRNA:decreased expression:heart left ventricle 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2174 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9767 myocardial stunning ISO RGD:731733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 2175 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:10763 hypertension IEP D RGD:68726|PMID:11208768 19990101 RGD 2175 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:732893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2175 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:732893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23913004 2175 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13782130|PMID:20122173 20180822 RGD 2175 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2175 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:736839 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:736839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:736839 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:736839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:25741868 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:7240710 20130221 OMIM 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532|PMID:29452611 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:736839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:7240710 20220406 OMIM 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 PMID:25741868|PMID:28492532|PMID:30535804 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736839 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004538 Hearing Loss ISO RGD:736839 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 2176 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 2177 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:0110222 Brugada syndrome 5 ISO RGD:734000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 2177 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2177 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:543 dystonia ISO RGD:734000 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 2177 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:630 genetic disease ISO RGD:734000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:10213 D RGD:14696740|PMID:8393475 20190723 RGD 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:737185 D RGD:14696746|PMID:7517707 20190723 RGD 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:10534 stomach cancer ISO RGD:737185 D RGD:14696738|PMID:23317218 20190723 RGD DNA:hypermethylation:exon, stomach, plasma 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:11476 osteoporosis treatment ISO RGD:10213 D RGD:14696735|PMID:26869358 20190722 RGD 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:2222 factor X deficiency ISO RGD:737185 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:630 genetic disease ISO RGD:737185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:8757 gastric mucosal hypertrophy ISO RGD:10213 D RGD:14696744|PMID:20476858 20190723 RGD 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:8929 atrophic gastritis ISO RGD:737185 D RGD:14696739|PMID:30539573 20190723 RGD 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:14696743|PMID:20237950 20190723 RGD 2178 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:9970 obesity treatment IDA D RGD:14696745|PMID:25822172 20190723 RGD 2179 Atp7a ATPase copper transporting alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:10216 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20170900|PMID:25741868|PMID:28389643|PMID:32294113 2179 Atp7a ATPase copper transporting alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:10216 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2179 Atp7a ATPase copper transporting alpha gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 2179 Atp7a ATPase copper transporting alpha gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:10216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 2179 Atp7a ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10215 D RGD:11340198|PMID:27293072 20160629 RGD knock in;DNA:missense mutation:cds:p.T985I (mouse) 2179 Atp7a ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:11252181|PMID:20170900 20160628 RGD DNA:missense mutations:cds:p.P1386S, p.T994I (human) 2179 Atp7a ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:7240710 20130221 OMIM 2179 Atp7a ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE PMID:14985388|PMID:18414213|PMID:19153371|PMID:20170900|PMID:22210628|PMID:24033266|PMID:25428120|PMID:25741868|PMID:28119449|PMID:28492532 2179 Atp7a ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10215 D RGD:11340205|PMID:7887410 20160629 RGD DNA:snp:intron:c.2553+3A>C (mouse) 2179 Atp7a ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:11252184|PMID:9467005 20160628 RGD DNA:transversion:intron:g.IVS10+3A>T (human) 2179 Atp7a ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:7240710 20130221 OMIM 2179 Atp7a ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome PMID:10739752|PMID:11241493|PMID:11431706|PMID:16199547|PMID:17108763|PMID:18414213|PMID:19153371|PMID:20170900|PMID:20652413|PMID:22210628|PMID:24033266|PMID:25741868|PMID:28119449|PMID:28492532|PMID:7842019|PMID:8149649|PMID:8981948|PMID:9246006|PMID:9880610 2179 Atp7a ATPase copper transporting alpha gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:10216 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 2179 Atp7a ATPase copper transporting alpha gene DOID:1059 intellectual disability ISO RGD:10216 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2179 Atp7a ATPase copper transporting alpha gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14985388|PMID:19153371|PMID:20170900|PMID:22210628|PMID:28119449|PMID:28492532 2179 Atp7a ATPase copper transporting alpha gene DOID:10652 Alzheimer's disease IEP D RGD:8657017|PMID:20027333 20160706 RGD mRNA:decreased expression:pituitary gland, vascular plexus (rat) 2179 Atp7a ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia IEP D RGD:2315589|PMID:15637178 20160627 RGD mRNA:increased expression:small intestine mucosa (rat) 2179 Atp7a ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:10215 D RGD:11252172|PMID:23776592 20160627 RGD mRNA:increased expression:duodenum (mouse) 2179 Atp7a ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia severity ISO RGD:10215 D RGD:11252172|PMID:23776592 20160630 RGD DNA:deletion:cds:p.A799_L800del (mouse) 2179 Atp7a ATPase copper transporting alpha gene DOID:12849 autistic disorder ISO RGD:10216 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2179 Atp7a ATPase copper transporting alpha gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:10216 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10570920|PMID:11241493|PMID:18414213|PMID:20045993|PMID:23281160|PMID:25741868|PMID:28492532 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10215 D RGD:11252183|PMID:9215672 20160628 RGD DNA:deletion:cds:p.A799_L800del (mouse) 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:11252182|PMID:7842019 20160628 RGD DNA:snp:intron:c.4268+3A>T (human) 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:11252186|PMID:21208200 20160628 RGD DNA:mutations:multiple (human) 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:11340200|PMID:20497190 20160629 RGD DNA:deletion:exons, introns:p.G876delX2 (human) 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11092760|PMID:11157799|PMID:11350187|PMID:12221109|PMID:12228238|PMID:14579150|PMID:15923132|PMID:16435190|PMID:16824500|PMID:17003121|PMID:17009961|PMID:17483305|PMID:18779302|PMID:20831904|PMID:21242307|PMID:21667063|PMID:22130675|PMID:22455587|PMID:22664332|PMID:22695177|PMID:22728746|PMID:22815746|PMID:22981378|PMID:23064757|PMID:24627433|PMID:25003971|PMID:25247420|PMID:26199316 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:7240710 20130221 OMIM 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:734621|PMID:10739752 19990101 RGD 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17496194|PMID:17576681|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20652413|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:27878136|PMID:28251916|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9246006|PMID:9536098|PMID:9894833 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes disease, mild | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:11472597|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17483305|PMID:17576681|PMID:18256395|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22074552|PMID:22210628|PMID:22264391|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26467025|PMID:27878136|PMID:28119449|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:34440436|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9166584|PMID:9246006|PMID:9385451|PMID:9467005|PMID:9536098|PMID:9668166|PMID:9894833 2179 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease severity ISO RGD:10216 D RGD:12879459|PMID:22074552 20170420 RGD DNA:duplication:exon: 2179 Atp7a ATPase copper transporting alpha gene DOID:2355 anemia ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23776592 2179 Atp7a ATPase copper transporting alpha gene DOID:3144 cutis laxa susceptibility ISO RGD:10216 D RGD:734621|PMID:10739752 20070201 RGD 2179 Atp7a ATPase copper transporting alpha gene DOID:3627 aortic aneurysm ISS RGD:10215 D RGD:13592920 20190801 MouseDO 2179 Atp7a ATPase copper transporting alpha gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:11341670|PMID:25319798 20160630 RGD mRNA, protein:decreased expression:diaphragm (rat) 2179 Atp7a ATPase copper transporting alpha gene DOID:630 genetic disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:18752978|PMID:20045993|PMID:21716286|PMID:22264391|PMID:23281160|PMID:24033266|PMID:25741868|PMID:27878136|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220 2179 Atp7a ATPase copper transporting alpha gene DOID:6432 pulmonary hypertension ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 2179 Atp7a ATPase copper transporting alpha gene DOID:8398 osteoarthritis ISS RGD:10215 D RGD:13592920 20190801 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 2179 Atp7a ATPase copper transporting alpha gene DOID:893 Wilson disease IEP D RGD:11340212|PMID:27331785 20160629 RGD mRNA:increased expression:hippocampus (rat) 2179 Atp7a ATPase copper transporting alpha gene DOID:9000352 Vascular System Injuries ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 2179 Atp7a ATPase copper transporting alpha gene DOID:9000495 Tremor ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 2179 Atp7a ATPase copper transporting alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 2179 Atp7a ATPase copper transporting alpha gene DOID:9002514 Neointima ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 2179 Atp7a ATPase copper transporting alpha gene DOID:9002801 Recurrence ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22304828 2179 Atp7a ATPase copper transporting alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17510416 2179 Atp7a ATPase copper transporting alpha gene DOID:9003603 Hemolysis ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 2179 Atp7a ATPase copper transporting alpha gene DOID:9003814 Neurologic Manifestations ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22815746|PMID:23064757 2179 Atp7a ATPase copper transporting alpha gene DOID:9004080 Aortic Rupture ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2346371|PMID:25449986 2179 Atp7a ATPase copper transporting alpha gene DOID:9004866 Ataxia ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 2179 Atp7a ATPase copper transporting alpha gene DOID:9005246 Paralysis ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 2179 Atp7a ATPase copper transporting alpha gene DOID:9006205 Animal Disease Models ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17483305 2179 Atp7a ATPase copper transporting alpha gene DOID:9006257 Growth Disorders ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23064757 2179 Atp7a ATPase copper transporting alpha gene DOID:9006945 Diabetic Cardiomyopathies treatment IMP D RGD:11341676|PMID:24927960 20160630 RGD 2179 Atp7a ATPase copper transporting alpha gene DOID:9007023 Prenatal Injuries ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25456742 2179 Atp7a ATPase copper transporting alpha gene DOID:9008510 Chronic Hepatitis ISO RGD:10216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 2180 Atp7b ATPase copper transporting beta gene DOID:0050952 spastic ataxia ISO RGD:731392 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:7626145 2180 Atp7b ATPase copper transporting beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731392 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 2180 Atp7b ATPase copper transporting beta gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:731392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30676690 2180 Atp7b ATPase copper transporting beta gene DOID:0111428 essential tremor 1 ISO RGD:731392 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 2180 Atp7b ATPase copper transporting beta gene DOID:1059 intellectual disability ISO RGD:731392 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 2180 Atp7b ATPase copper transporting beta gene DOID:2237 hepatitis IAGP D RGD:1302497|PMID:3429843 20201210 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:2237 hepatitis IAGP D RGD:25823153|PMID:3392951 20201210 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14574444|PMID:15135151 2180 Atp7b ATPase copper transporting beta gene DOID:2697 renal adenoma IAGP D RGD:1302456|PMID:11509115 20201214 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:305 carcinoma ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11802810|PMID:12216079 2180 Atp7b ATPase copper transporting beta gene DOID:3459 breast carcinoma severity ISO RGD:731392 D RGD:2292670|PMID:11802810 20080501 RGD mRNA,protein:increased expression:breast 2180 Atp7b ATPase copper transporting beta gene DOID:409 liver disease ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364284 2180 Atp7b ATPase copper transporting beta gene DOID:5082 liver cirrhosis ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 2180 Atp7b ATPase copper transporting beta gene DOID:5212 congenital disorder of glycosylation ISO RGD:731392 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 2180 Atp7b ATPase copper transporting beta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731392 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 2180 Atp7b ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051024|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10721669|PMID:10790207|PMID:10942420|PMID:11021476|PMID:11093740|PMID:11175281|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11857545|PMID:12544487|PMID:12557139|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14962673|PMID:14966923|PMID:14986826|PMID:15024742|PMID:15202786|PMID:15205462|PMID:15337266|PMID:15523622|PMID:15723329|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16283883|PMID:16472602|PMID:16545904|PMID:16603785|PMID:16649058|PMID:16696937|PMID:16791614|PMID:16922724|PMID:16939419|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17823867|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18203200|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18414213|PMID:18483695|PMID:18652531|PMID:18692069|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19306278|PMID:19371217|PMID:19419418|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21682854|PMID:21794208|PMID:21796144|PMID:21832955|PMID:22106832|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22677543|PMID:22692182|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23333878|PMID:2333878|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23774950|PMID:23843956|PMID:23962630|PMID:23982005|PMID:24010089|PMID:24023303|PMID:24033266|PMID:24094725|PMID:24146181|PMID:24253677|PMID:24517292|PMID:24661374|PMID:24706876|PMID:24878384|PMID:24897373|PMID:24909901|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25333069|PMID:25390358|PMID:25497208|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26032686|PMID:2610069|PMID:26206375|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26483271|PMID:26580967|PMID:26764160|PMID:26799313|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27398169|PMID:27528516|PMID:27638368|PMID:27706781|PMID:27935710|PMID:27982432|PMID:28119449|PMID:28212618|PMID:28271598|PMID:28492532|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29181760|PMID:29431110|PMID:29473088|PMID:29674751|PMID:29790872|PMID:29907136|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31980526|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33640437|PMID:33668890|PMID:33763395|PMID:34400371|PMID:34426522|PMID:34470610|PMID:7626145|PMID:8298641|PMID:8533760|PMID:8782057|PMID:893844|PMID:8938442|PMID:9199563|PMID:9214248|PMID:9311736|PMID:9352458|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743 2180 Atp7b ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 2180 Atp7b ATPase copper transporting beta gene DOID:684 hepatocellular carcinoma onset IAGP D RGD:15036817|PMID:8291609 20201210 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:686 liver carcinoma IAGP D RGD:1302456|PMID:11509115 20201214 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease IAGP D RGD:2292672|PMID:17303181 20080501 RGD DNA:deletion:exon 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease IAGP D RGD:25823141|PMID:30733544 20201210 RGD compared to LEA/Hok 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease IAGP D RGD:25823154|PMID:1561010 20201210 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease IAGP D RGD:35316074|PMID:24358170 20201210 RGD compared to LEA/Hok 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease IAGP D RGD:631728|PMID:7951327 20201210 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease IDA D RGD:734622|PMID:8037756 19990101 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10686180|PMID:10790207|PMID:10830865|PMID:10982773|PMID:11157799|PMID:11405812|PMID:11472373|PMID:11803042|PMID:11854914|PMID:11985593|PMID:12228238|PMID:12544487|PMID:12820478|PMID:14574444|PMID:14579150|PMID:14998371|PMID:15135151|PMID:15147237|PMID:15911138|PMID:16133174|PMID:16607473|PMID:16824500|PMID:16932613|PMID:17182432|PMID:17276780|PMID:17634212|PMID:17919502|PMID:18371106|PMID:18779302|PMID:19888908|PMID:20647314|PMID:21146535|PMID:21242307|PMID:21364284|PMID:21406592|PMID:22130675|PMID:22455587|PMID:22565294|PMID:22677543|PMID:22802922|PMID:22945834|PMID:22981378|PMID:23235335|PMID:23333878|PMID:23789284|PMID:23843956|PMID:23963605|PMID:24094725|PMID:24892424|PMID:25003971|PMID:25134866 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:21410182|PMID:32043565 20200325 RGD DNA:mutations:multiple: 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:7240710 20130221 OMIM 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10051024|PMID:10070620|PMID:10194254|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10557326|PMID:10721669|PMID:10790207|PMID:10942420|PMID:10980554|PMID:10981891|PMID:10994503|PMID:11021476|PMID:11043508|PMID:11060541|PMID:11093740|PMID:11175281|PMID:11180609|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11721763|PMID:11775208|PMID:11857545|PMID:11954751|PMID:12032531|PMID:12202071|PMID:12325021|PMID:12376745|PMID:12515040|PMID:12544487|PMID:12557139|PMID:12756138|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14616767|PMID:14639035|PMID:14748773|PMID:14761325|PMID:14962673|PMID:14966923|PMID:14974157|PMID:14986826|PMID:15024742|PMID:15147237|PMID:15202786|PMID:15205462|PMID:15205742|PMID:15337266|PMID:15523622|PMID:15524314|PMID:15557537|PMID:15571607|PMID:15723329|PMID:15811015|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16234011|PMID:16283883|PMID:16416207|PMID:16423615|PMID:16472602|PMID:16495228|PMID:16510432|PMID:16545904|PMID:16567646|PMID:16603785|PMID:16644258|PMID:16649058|PMID:16684691|PMID:16696937|PMID:16791614|PMID:16868807|PMID:16922724|PMID:16939419|PMID:16998287|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17325640|PMID:17410460|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17629589|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17718866|PMID:17823867|PMID:17876883|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18156766|PMID:18203200|PMID:18286826|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18403153|PMID:18414213|PMID:18416466|PMID:18424137|PMID:18483695|PMID:18556333|PMID:18652531|PMID:18692069|PMID:18698682|PMID:18728530|PMID:18760268|PMID:18841562|PMID:18841564|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19172127|PMID:19306278|PMID:19371217|PMID:19381668|PMID:19419418|PMID:19449859|PMID:19484379|PMID:19514071|PMID:19540904|PMID:19596473|PMID:19700008|PMID:19725132|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20421574|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21334398|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21645214|PMID:21682854|PMID:21707886|PMID:21794208|PMID:21796144|PMID:21832955|PMID:21925265|PMID:21956287|PMID:21982967|PMID:22019423|PMID:22046264|PMID:22087377|PMID:22093921|PMID:22106832|PMID:22170460|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22494076|PMID:22677543|PMID:22687675|PMID:22692182|PMID:22720273|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22745856|PMID:22763723|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:22955616|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23275100|PMID:23333878|PMID:2333878|PMID:23382538|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23486543|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23607698|PMID:23774950|PMID:23789284|PMID:23843956|PMID:23885147|PMID:23962630|PMID:23982005|PMID:24003324|PMID:24010089|PMID:24023303|PMID:24033266|PMID:2409472|PMID:24094725|PMID:24118554|PMID:24119323|PMID:24146181|PMID:24253677|PMID:24475083|PMID:24476933|PMID:24517292|PMID:24555712|PMID:24661374|PMID:24668339|PMID:24706876|PMID:24718822|PMID:24720933|PMID:24794161|PMID:24798599|PMID:24878384|PMID:24897373|PMID:24909901|PMID:24932333|PMID:25014046|PMID:25046119|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25199035|PMID:25327413|PMID:25333069|PMID:25376582|PMID:25390358|PMID:25465132|PMID:25497208|PMID:25516681|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704483|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26031236|PMID:26032686|PMID:2610069|PMID:26206375 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:26207595|PMID:26215059|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26466587|PMID:26483271|PMID:26580967|PMID:26650869|PMID:26660341|PMID:26752957|PMID:26764160|PMID:26782526|PMID:2679931|PMID:26799313|PMID:26807378|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27122662|PMID:27398169|PMID:27437191|PMID:27499926|PMID:27528516|PMID:27535533|PMID:27638368|PMID:27706781|PMID:27930511|PMID:27935710|PMID:27941192|PMID:27982432|PMID:27992490|PMID:28119449|PMID:28212618|PMID:28265897|PMID:28271598|PMID:28392828|PMID:28433102|PMID:28443131|PMID:28492532|PMID:28507923|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29085216|PMID:29181760|PMID:29321352|PMID:29356957|PMID:29381936|PMID:29418065|PMID:29431110|PMID:29473088|PMID:29482223|PMID:29540233|PMID:29637721|PMID:29649982|PMID:29674751|PMID:29761093|PMID:29790872|PMID:29907136|PMID:29914392|PMID:29915382|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30087448|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30426382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30676690|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:30980273|PMID:31000363|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31172689|PMID:31286540|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31942415|PMID:31980526|PMID:32043565|PMID:32067425|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32539308|PMID:32613181|PMID:32618023|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32901917|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33260258|PMID:33265091|PMID:33640437|PMID:33668890|PMID:33719328|PMID:33763395|PMID:33948933|PMID:34002136|PMID:34091542|PMID:34131283|PMID:34240825|PMID:34324271|PMID:34381801|PMID:34400371|PMID:34426522|PMID:34470610|PMID:34539730|PMID:34773664|PMID:35079019|PMID:35193651|PMID:35864215|PMID:7626145|PMID:7726170|PMID:7833924|PMID:8203200|PMID:8298639|PMID:8298640|PMID:8298641|PMID:8526905|PMID:8533760|PMID:8782057|PMID:8931691|PMID:893844|PMID:8938442|PMID:8980283|PMID:9199563|PMID:9214248|PMID:9222767|PMID:9311736|PMID:9352458|PMID:9407345|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743|PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease treatment ISO RGD:731392 D RGD:1554300|PMID:15511628 20200429 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease treatment ISO RGD:731392 D RGD:25671604|PMID:16803697 20200429 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:9000918 Disease Progression ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12216079|PMID:12509969|PMID:19296535 2180 Atp7b ATPase copper transporting beta gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 2180 Atp7b ATPase copper transporting beta gene DOID:9001793 Generalized Epilepsy ISO RGD:731392 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:10447265|PMID:10790207|PMID:11243728|PMID:12885331|PMID:15811015|PMID:16207219|PMID:16684691|PMID:16791614|PMID:18414213|PMID:20517649|PMID:21610751|PMID:22484412|PMID:22677543|PMID:22692182|PMID:23518715|PMID:23551039|PMID:23789284|PMID:24517292|PMID:25390358|PMID:25741868|PMID:25825851|PMID:26764160|PMID:2679931|PMID:26799313|PMID:28492532|PMID:30097039|PMID:30232804|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:33640437|PMID:9671269 2180 Atp7b ATPase copper transporting beta gene DOID:9002265 Kidney Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 2180 Atp7b ATPase copper transporting beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 2180 Atp7b ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12216079 2180 Atp7b ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:731392 D RGD:2298865|PMID:12216079 20080729 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:9003370 Dyslipidemias ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 2180 Atp7b ATPase copper transporting beta gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:731392 D RGD:2298864|PMID:15790435 20080729 RGD protein:increased expression:endometrium 2180 Atp7b ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure IAGP D RGD:15036817|PMID:8291609 20201210 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 2180 Atp7b ATPase copper transporting beta gene DOID:9005372 Inflammation ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22945834 2180 Atp7b ATPase copper transporting beta gene DOID:9006205 Animal Disease Models ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11803042|PMID:15911138|PMID:21146535|PMID:21364284 2180 Atp7b ATPase copper transporting beta gene DOID:9006435 Mental Retardation Wolff Type ISO RGD:731392 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Wolff Zimmermann syndrome PMID:10441329|PMID:16133174|PMID:16283883|PMID:17264425|PMID:21034864|PMID:21645214|PMID:23518715|PMID:23551039|PMID:24094725|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30426382|PMID:31059521|PMID:9887381 2180 Atp7b ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms IAGP D RGD:1302456|PMID:11509115 20201214 RGD 2180 Atp7b ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:731392 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 2180 Atp7b ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms onset IAGP D RGD:1302456|PMID:11509115 20210218 RGD compared to LEC/Tj; 2180 Atp7b ATPase copper transporting beta gene DOID:9007364 Mouth Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 2180 Atp7b ATPase copper transporting beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19296535 2180 Atp7b ATPase copper transporting beta gene DOID:9008939 Breast Neoplasms ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11802810 2180 Atp7b ATPase copper transporting beta gene DOID:9452 fatty liver disease ISO RGD:731392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 2181 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:305 carcinoma ISO RGD:1552540 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 2181 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1552540 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 2181 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552540 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 2181 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:9452 fatty liver disease ISO RGD:1552540 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2184 Avp arginine vasopressin gene DOID:0050700 cardiomyopathy ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 2184 Avp arginine vasopressin gene DOID:0060001 withdrawal disorder ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4040330 2184 Avp arginine vasopressin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:68968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 2184 Avp arginine vasopressin gene DOID:10762 portal hypertension IMP D RGD:2301924|PMID:18987488 20081107 RGD 2184 Avp arginine vasopressin gene DOID:10762 portal hypertension ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6696534 2184 Avp arginine vasopressin gene DOID:10763 hypertension IEP D RGD:1601243|PMID:16582573 20070416 RGD protein:increased expression:plasma 2184 Avp arginine vasopressin gene DOID:10763 hypertension IEP D RGD:1601305|PMID:12623976 20070416 RGD protein:increased expression:carotid artery 2184 Avp arginine vasopressin gene DOID:10763 hypertension ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1663982|PMID:3346065|PMID:4040330|PMID:6367368|PMID:19133994 2184 Avp arginine vasopressin gene DOID:10914 amnestic disorder ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7562510 2184 Avp arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus IEP D RGD:2301917|PMID:18578860 20081107 RGD 2184 Avp arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7057320 2184 Avp arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:2301918|PMID:18494865 20081107 RGD DNA:missense mutations: :multiple 2184 Avp arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:7240710 20130425 OMIM 2184 Avp arginine vasopressin gene DOID:12388 neurohypophyseal diabetes insipidus ISO RGD:68968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus PMID:10085151|PMID:10369876|PMID:10487710|PMID:11017955|PMID:11443218|PMID:12107248|PMID:14660745|PMID:14673472|PMID:15070970|PMID:1740104|PMID:1840604|PMID:25741868|PMID:28492532|PMID:31238300|PMID:3390991|PMID:6132221|PMID:7714110|PMID:8370681|PMID:8370682|PMID:8514868|PMID:8626836|PMID:8945633|PMID:9360520|PMID:9467595|PMID:9580132|PMID:9814475 2184 Avp arginine vasopressin gene DOID:12849 autistic disorder ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 2184 Avp arginine vasopressin gene DOID:2468 psychotic disorder ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3567260 2184 Avp arginine vasopressin gene DOID:3021 acute kidney failure ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2139164 2184 Avp arginine vasopressin gene DOID:326 ischemia ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2139164|PMID:10440088 2184 Avp arginine vasopressin gene DOID:3328 temporal lobe epilepsy IDA D RGD:1579871|PMID:12438923 19990101 RGD 2184 Avp arginine vasopressin gene DOID:3401 inappropriate ADH syndrome ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:112579|PMID:6920297 2184 Avp arginine vasopressin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:68968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 2184 Avp arginine vasopressin gene DOID:4195 hyperglycemia IDA D RGD:1601303|PMID:16497839 20070416 RGD 2184 Avp arginine vasopressin gene DOID:5409 lung small cell carcinoma ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2832203 2184 Avp arginine vasopressin gene DOID:5419 schizophrenia ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3567260 2184 Avp arginine vasopressin gene DOID:6000 congestive heart failure ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18179782 2184 Avp arginine vasopressin gene DOID:630 genetic disease ISO RGD:68968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19129716|PMID:28492532 2184 Avp arginine vasopressin gene DOID:8725 vascular dementia IEP D RGD:2303174|PMID:18925713 20090205 RGD protein:decreased expression:brain 2184 Avp arginine vasopressin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6983645 2184 Avp arginine vasopressin gene DOID:9000483 Angina Pectoris ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11128043|PMID:11791009 2184 Avp arginine vasopressin gene DOID:9000641 Pain ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2271928|PMID:6094376 2184 Avp arginine vasopressin gene DOID:9001189 Drug Overdose ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11914425 2184 Avp arginine vasopressin gene DOID:9002211 Hyperalgesia ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 2184 Avp arginine vasopressin gene DOID:9002322 Shy-Drager Syndrome ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6850280 2184 Avp arginine vasopressin gene DOID:9002549 Shock ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10570779 2184 Avp arginine vasopressin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:68968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 2184 Avp arginine vasopressin gene DOID:9005274 Polyuria IAGP D RGD:2314654|PMID:10919858 20201210 RGD 2184 Avp arginine vasopressin gene DOID:9005274 Polyuria ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11012637 2184 Avp arginine vasopressin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10220 D RGD:2301919|PMID:18420743 20081107 RGD mRNA:increased expression:hypothalamus 2184 Avp arginine vasopressin gene DOID:9006024 Hypotension ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2485266|PMID:3544871|PMID:11171655|PMID:12019395|PMID:17357383 2184 Avp arginine vasopressin gene DOID:9006635 Hyponatremia ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6920297 2184 Avp arginine vasopressin gene DOID:9006635 Hyponatremia ISO RGD:68968 D RGD:1579880|PMID:12590641 19990101 RGD 2184 Avp arginine vasopressin gene DOID:9007096 Stroke ISO RGD:68968 D RGD:1601304|PMID:15897635 20070416 RGD protein:decreased expression:plasma 2184 Avp arginine vasopressin gene DOID:9007956 Febrile Seizures IDA D RGD:1579871|PMID:12438923 19990101 RGD 2184 Avp arginine vasopressin gene DOID:9007993 Dehydration IEP D RGD:2304139|PMID:17393298 20090306 RGD mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus 2184 Avp arginine vasopressin gene DOID:9007993 Dehydration ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2554359 2184 Avp arginine vasopressin gene DOID:9008023 Memory Disorders ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11553362 2184 Avp arginine vasopressin gene DOID:9008644 Dysmenorrhea ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 2184 Avp arginine vasopressin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6983645 2184 Avp arginine vasopressin gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2301922|PMID:17940875 20081107 RGD protein:increased expression:hypothalamus 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus IAGP D RGD:150429658|PMID:6717565 20210914 RGD DNA:deletion:cds:exon B (rat) 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus IAGP D RGD:2314654|PMID:10919858 20201210 RGD 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus IAGP D RGD:2314661|PMID:13995944 20210225 RGD 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus IAGP D RGD:632128|PMID:5692127 20210225 RGD 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus ISO RGD:68968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6945054|PMID:15169711 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus ISO RGD:68968 D RGD:734624|PMID:8945633 19990101 RGD 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus ISO RGD:68968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes insipidus PMID:25741868|PMID:28008190 2184 Avp arginine vasopressin gene DOID:9409 diabetes insipidus treatment IMP D RGD:150429657|PMID:9396613 20210914 RGD 2184 Avp arginine vasopressin gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:2314661|PMID:13995944 20210225 RGD 2184 Avp arginine vasopressin gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:632128|PMID:5692127 20210225 RGD 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:68986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20546835 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:10762 portal hypertension ISO RGD:68986 D RGD:2300334|PMID:12641544 20080912 RGD associated with Liver Cirrhosis;mRNA:increased expression:liver, artery 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:10763 hypertension IEP D RGD:2300322|PMID:15657301 20080912 RGD mRNA, protein:increased expression:kidney, arteriole 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:10763 hypertension IEP D RGD:2300330|PMID:15475662 20080912 RGD mRNA, protein:increased expression:paraventricular hypothalamic nucleus 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:68986 D RGD:2300319|PMID:17653244 20080912 RGD DNA:SNP 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:12849 autistic disorder ISO RGD:68986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16520824 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:1591 renovascular hypertension IEP D RGD:2300323|PMID:15613739 20080912 RGD mRNA:altered expression:brain 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:3021 acute kidney failure IMP D RGD:2300348|PMID:17347933 20080912 RGD 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:4724 brain edema IMP D RGD:2300375|PMID:16671476 20080915 RGD associated with Reperfusion Injury 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:5419 schizophrenia ISS RGD:68987 D RGD:13592920 20180518 MouseDO OMIM:181500 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:5844 myocardial infarction IMP D RGD:2300376|PMID:16423716 20080916 RGD 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:630 genetic disease ISO RGD:68986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:9000998 Brain Injuries IEP D RGD:2300372|PMID:17244947 20080915 RGD mRNA:increased expression:cerebral cortex 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:9003936 Cardiomegaly IMP D RGD:2300338|PMID:18467593 20080912 RGD associated with Heart Failure, Congestive 2185 Avpr1a arginine vasopressin receptor 1A gene DOID:9008217 Hemorrhage IMP D RGD:2300333|PMID:14647048 20080912 RGD associated with Hypertension, Portal 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0050476 Barth syndrome ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0050735 X-linked monogenic disease ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:7240710 20210630 OMIM 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked PMID:10026829|PMID:10526945|PMID:10770218|PMID:10820167|PMID:10820168|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:12955588|PMID:1303257|PMID:1303271|PMID:1356229|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18726898|PMID:19179480|PMID:19587238|PMID:20403097|PMID:22144672|PMID:22644838|PMID:23762448|PMID:24033266|PMID:25324589|PMID:25741868|PMID:26467025|PMID:27355191|PMID:27884173|PMID:28492532|PMID:29398133|PMID:29546600|PMID:29594432|PMID:30976394|PMID:32073219|PMID:32903920|PMID:32939031|PMID:33532864|PMID:33996673|PMID:34101133|PMID:4886456|PMID:5309332|PMID:7714087|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7984150|PMID:7987330|PMID:7989330|PMID:8037205|PMID:8078903|PMID:8104196|PMID:8267567|PMID:8401502|PMID:8479490|PMID:8479491|PMID:8704106|PMID:8766931|PMID:8999963|PMID:9027323|PMID:9171234|PMID:9329382|PMID:9369448|PMID:9402087|PMID:9452109|PMID:9587067|PMID:9711877|PMID:9853256 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:730975 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:7240710 20130221 OMIM 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis PMID:10820168|PMID:11095010|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:15166253|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17229917|PMID:19179480|PMID:20159941|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27117808|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7920187|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8999963|PMID:9452109|PMID:9711877 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:10763 hypertension severity IDA D RGD:1298694|PMID:12072411 19990101 RGD 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12414899|PMID:14998935|PMID:19703807|PMID:19729836|PMID:20374732 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:2314013|PMID:19816050 20091030 RGD DNA:missense mutation: :c.262G>A (p.V88M) (human) 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:2314015|PMID:18489790 20091030 RGD DNA:deletion (human) 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:2314016|PMID:17941907 20091030 RGD DNA:mutation:exon:1454C>A (p.S329R) (human) 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:2314017|PMID:17550212 20091030 RGD DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human) 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:2314018|PMID:17371330 20091030 RGD DNA:missense mutations: :multiple (human) 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:2314019|PMID:17020465 20091030 RGD DNA:mutations: :multiple (human) 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10026829|PMID:10714359|PMID:10749568|PMID:10770218|PMID:10820168|PMID:10918636|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16502494|PMID:16580609|PMID:16689923|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18407239|PMID:18726898|PMID:19179480|PMID:19729439|PMID:19812297|PMID:25741868|PMID:26467025|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7541187|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7933835|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8401502|PMID:8704106|PMID:8766931|PMID:8815789|PMID:8999963|PMID:9402087|PMID:9452109|PMID:9711877|PMID:9773787 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:12849 autistic disorder ISO RGD:730975 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:13628 favism ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:5199 ureteral obstruction IEP D RGD:2312654|PMID:18971210 20180822 RGD 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:6000 congestive heart failure ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:607 paraplegia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:630 genetic disease ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10820167|PMID:10820168|PMID:1303257|PMID:18726898|PMID:25741868|PMID:25937802|PMID:26077742|PMID:28492532 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:730975 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:9006257 Growth Disorders ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 2186 Avpr2 arginine vasopressin receptor 2 gene DOID:9008760 Oliguria ISO RGD:730975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7977526 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050127 sinusitis ISO RGD:735517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:153350131|PMID:29199150 20220908 RGD protein:increased expression:saliva 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:153350144|PMID:33564003 20220912 RGD protein:decreased expression:saliva 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:153352323|PMID:27982256 20220915 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:153352320|PMID:29608898 20220914 RGD associated with type 2 diabetes mellitus; 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:10283 prostate cancer ISO RGD:735517 D RGD:153350158|PMID:11309332 20220913 RGD protein:increased expression:serum 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:10286 prostate carcinoma exacerbates ISO RGD:735517 D RGD:153350158|PMID:11309332 20220913 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:11612 polycystic ovary syndrome ISO RGD:735517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:1826 epilepsy IEP D RGD:153350152|PMID:28576733 20220913 RGD protein:decreased expression:hippocampal neuron 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:219 colon cancer severity ISO RGD:735517 D RGD:153350136|PMID:25561225 20220909 RGD protein:increased expression:colon,serum 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:299 adenocarcinoma ISO RGD:735517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3021 acute kidney failure disease_progression ISO RGD:735517 D RGD:153350150|PMID:23849457 20220913 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3328 temporal lobe epilepsy ISO RGD:735517 D RGD:153350152|PMID:28576733 20220913 RGD protein:decreased expression:brain neuron 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735517 D RGD:153350138|PMID:28053542 20220909 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3910 lung adenocarcinoma ISO RGD:735517 D RGD:153350134|PMID:17724461 20220909 RGD mRNA,protein:increased expression:lung 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735517 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis IEP D RGD:153350133|PMID:26902423 20220908 RGD mRNA:decreased expression:liver 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:153350130|PMID:22625427 20220908 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver: 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735517 D RGD:153350143|PMID:23935945 20220912 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:630 genetic disease ISO RGD:735517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma IEP D RGD:153350133|PMID:26902423 20220908 RGD mRNA:decreased expression:liver 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735517 D RGD:153350130|PMID:22625427 20220908 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735517 D RGD:153350132|PMID:27993894 20220908 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:7148 rheumatoid arthritis IEP D RGD:153352318|PMID:18372237 20220914 RGD mRNA:decreased expression:liver 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease IEP D RGD:153352319|PMID:23423258 20220914 RGD protein:increased expression:white adipose tissue: 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:735517 D RGD:153352319|PMID:23423258 20220914 RGD protein:increased expression:plasma,white adipose tissue: 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9002304 Prostatic Neoplasms ISO RGD:735517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9003139 Cardiac Fibrosis exacerbates ISO RGD:10223 D RGD:153350149|PMID:25788525 20220913 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004303 Tubulointerstitial Fibrosis exacerbates ISO RGD:10223 D RGD:153350149|PMID:25788525 20220913 RGD associated with ureteral obstruction; 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:10223 D RGD:153350149|PMID:25788525 20220913 RGD associated with ureteral obstruction; 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004968 Yin Deficiency treatment IEP D RGD:153350148|PMID:29729385 20220913 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9005172 Lung Neoplasms ISO RGD:735517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9007346 Cachexia ISO RGD:735517 D RGD:153350145|PMID:21245862 20220912 RGD associated with gastrointestinal system cancer;mRNA,protein:increased expression:subcutaneous adipose tissue: 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9009121 lung metastasis ameliorates ISO RGD:735517 D RGD:153350132|PMID:27993894 20220908 RGD associated with hepatocellular carcinoma; 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9009121 lung metastasis ameliorates ISO RGD:735517 D RGD:153350133|PMID:26902423 20220908 RGD associated with hepatocellular carcinoma; 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:153350127|PMID:32525817 20220908 RGD mRNA,protein:decreased expression:colorectum: 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:153350147|PMID:29755407 20220912 RGD protein:increased expression:serum 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer disease_progression ISO RGD:735517 D RGD:153350137|PMID:23393224 20220909 RGD 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity IEP D RGD:153350156|PMID:21136593 20220913 RGD protein:decreased expression:plasma 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity IEP D RGD:153350157|PMID:19934249 20220913 RGD mRNA:decreased expression:fat pad 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:10223 D RGD:153350157|PMID:19934249 20220913 RGD mRNA, protein:decreased expression:fat pad, liver,plasma 2187 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:735517 D RGD:153350147|PMID:29755407 20220912 RGD associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue 2189 B2m beta-2 microglobulin gene DOID:0050589 inflammatory bowel disease ISO RGD:735892 D RGD:6482693|PMID:20015205 20120425 RGD 2189 B2m beta-2 microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:7240710 20151118 OMIM 2189 B2m beta-2 microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:22693999|PMID:25702838|PMID:25741868|PMID:28492532 2189 B2m beta-2 microglobulin gene DOID:0050712 AGAT deficiency ISO RGD:735892 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 2189 B2m beta-2 microglobulin gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7688627 2189 B2m beta-2 microglobulin gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 2189 B2m beta-2 microglobulin gene DOID:0050830 peripheral artery disease severity ISO RGD:735892 D RGD:6482704|PMID:21314441 20120426 RGD 2189 B2m beta-2 microglobulin gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:22693999|PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:10224 D RGD:6483039|PMID:16282467 20120510 RGD associated with Herpesviridae Infections 2189 B2m beta-2 microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735892 D RGD:6482705|PMID:9067691 20120426 RGD associated with kidney transplantation 2189 B2m beta-2 microglobulin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735892 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 2189 B2m beta-2 microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:7240710 20130221 OMIM 2189 B2m beta-2 microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic PMID:16549777|PMID:25702838|PMID:25741868|PMID:28492532|PMID:4186801 2189 B2m beta-2 microglobulin gene DOID:10763 hypertension ISO RGD:735892 D RGD:1601306|PMID:15957539 20070416 RGD protein:increased expression:serum 2189 B2m beta-2 microglobulin gene DOID:114 heart disease ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 2189 B2m beta-2 microglobulin gene DOID:11400 pyelonephritis IEP D RGD:6482315|PMID:21797109 20120425 RGD protein:increased expression:urine 2189 B2m beta-2 microglobulin gene DOID:14330 Parkinson's disease ISO RGD:735892 D RGD:6482706|PMID:7605592 20120426 RGD protein:increased expression:corpus striatum 2189 B2m beta-2 microglobulin gene DOID:1909 melanoma ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:2349 arteriosclerosis ISO RGD:735892 D RGD:2311212|PMID:16221094 20090629 RGD associated with Kidney Diseases 2189 B2m beta-2 microglobulin gene DOID:2352 hemochromatosis ISS RGD:10224 D RGD:13592920 20180518 MouseDO OMIM:231100 2189 B2m beta-2 microglobulin gene DOID:2717 Bloom syndrome ISO RGD:735892 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2189 B2m beta-2 microglobulin gene DOID:3021 acute kidney failure IEP D RGD:6482685|PMID:19536607 20120425 RGD protein:increased expression:serum 2189 B2m beta-2 microglobulin gene DOID:3021 acute kidney failure ISO RGD:735892 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:2689182|PMID:22005293|PMID:28885000 2189 B2m beta-2 microglobulin gene DOID:3407 carotid artery disease disease_progression ISO RGD:735892 D RGD:6482703|PMID:21546482 20120426 RGD 2189 B2m beta-2 microglobulin gene DOID:3717 gastric adenocarcinoma ISO RGD:735892 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735892 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2189 B2m beta-2 microglobulin gene DOID:3907 lung squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:3910 lung adenocarcinoma ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21793797 2189 B2m beta-2 microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:6482731|PMID:17214095 20120430 RGD associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine 2189 B2m beta-2 microglobulin gene DOID:5199 ureteral obstruction IEP D RGD:6482685|PMID:19536607 20090630 RGD protein:increased expression:serum 2189 B2m beta-2 microglobulin gene DOID:5409 lung small cell carcinoma ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:5411 lung oat cell carcinoma ISO RGD:735892 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:557 kidney disease ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2202081|PMID:17303580|PMID:24863737 2189 B2m beta-2 microglobulin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735892 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:33857584 2189 B2m beta-2 microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:2311211|PMID:17634209 20090629 RGD protein:increased expression:urine 2189 B2m beta-2 microglobulin gene DOID:640 encephalomyelitis ISO RGD:10224 D RGD:6482701|PMID:22335434 20120426 RGD associated with Theilovirus infection 2189 B2m beta-2 microglobulin gene DOID:640 encephalomyelitis ISO RGD:735892 D RGD:6482707|PMID:1402029 20120426 RGD associated with Measles; protein:increased expression:cerebrospinal fluid 2189 B2m beta-2 microglobulin gene DOID:6536 plasma cell neoplasm ISO RGD:735892 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:83 cataract ISO RGD:735892 D RGD:2311237|PMID:12567748 20090630 RGD associated with Diabetic Nephropathies 2189 B2m beta-2 microglobulin gene DOID:848 arthritis ISO RGD:735892 D RGD:6482692|PMID:16575857 20120425 RGD 2189 B2m beta-2 microglobulin gene DOID:8622 measles ISO RGD:735892 D RGD:6482707|PMID:1402029 20120426 RGD protein:increased expression:plasma 2189 B2m beta-2 microglobulin gene DOID:8923 skin melanoma ISO RGD:735892 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:735892 D RGD:6482709|PMID:19527385 20120426 RGD associated with infant, premature;protein:increased expression:urine 2189 B2m beta-2 microglobulin gene DOID:9000380 Spondylarthritis ISO RGD:735892 D RGD:6482692|PMID:16575857 20120425 RGD 2189 B2m beta-2 microglobulin gene DOID:9001542 Albuminuria ISO RGD:735892 D RGD:6482713|PMID:18469311 20120426 RGD associated with HIV infections;protein:increased expression:urine 2189 B2m beta-2 microglobulin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:6482712|PMID:18777138 20120426 RGD protein:increased expression:urine 2189 B2m beta-2 microglobulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17404077 2189 B2m beta-2 microglobulin gene DOID:9002331 Knee Osteoarthritis ISO RGD:735892 D RGD:6482710|PMID:18795399 20120426 RGD protein:increased expression:serum 2189 B2m beta-2 microglobulin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735892 D RGD:1599429|PMID:16549777 20070202 RGD 2189 B2m beta-2 microglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10224 D RGD:6482690|PMID:15837577 20120425 RGD 2189 B2m beta-2 microglobulin gene DOID:9003571 Paraproteinemias ISO RGD:735892 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:9005358 Hypergammaglobulinemia ISO RGD:735892 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21793797 2189 B2m beta-2 microglobulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735892 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2189 B2m beta-2 microglobulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:9256 colorectal cancer ISO RGD:735892 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2189 B2m beta-2 microglobulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735892 D RGD:2311236|PMID:15127324 20090630 RGD protein:increased expression:serum 2189 B2m beta-2 microglobulin gene DOID:9538 multiple myeloma ISO RGD:735892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:26619011 2189 B2m beta-2 microglobulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10224 D RGD:2311235|PMID:15446308 20090630 RGD 2189 B2m beta-2 microglobulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10224 D RGD:2311238|PMID:11572996 20090630 RGD 2189 B2m beta-2 microglobulin gene DOID:9970 obesity ISO RGD:735892 D RGD:1601309|PMID:15517379 20070416 RGD protein:increased expression:urine 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:0014667 disease of metabolism susceptibility ISO RGD:735913 D RGD:734629|PMID:12704386 20070202 RGD familial hypercholanemia, OMIM:607748;DNA:transition: :226A>G (human) 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:17182750|PMID:20301541 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:735913 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:630 genetic disease ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:7240710 20210512 OMIM 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:12704386|PMID:23415802|PMID:25741868|PMID:28492532 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:9004484 Sepsis IEP D RGD:69770|PMID:7575455 20110322 RGD 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:17495420|PMID:24033266|PMID:25741868|PMID:28492532 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:9007118 Familial Hypercholanemia ISO RGD:735913 D RGD:8554872 20170131 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 2190 Baat bile acid CoA:amino acid N-acyltransferase gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0080690 RASopathy ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 2191 Bace1 beta-secretase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 2191 Bace1 beta-secretase 1 gene DOID:1059 intellectual disability ISO RGD:1606566 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2191 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16407166 2191 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606566 D RGD:1358439|PMID:12824768 19990101 RGD 2191 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:12824768|REF_RGD_ID:1358439 2191 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782083|PMID:28763060 20180820 RGD 2191 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332039 D RGD:13782077|PMID:29038004 20180820 RGD 2191 Bace1 beta-secretase 1 gene DOID:1307 dementia treatment IMP D RGD:13782142|PMID:28683457 20180822 RGD 2191 Bace1 beta-secretase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:13782170|PMID:15120577 20180827 RGD protein:increased activity,increased expression:brain cortex 2191 Bace1 beta-secretase 1 gene DOID:2491 sensory peripheral neuropathy IEP D RGD:13782150|PMID:28012171 20180823 RGD mRNA:decreased expression:dorsal root ganglion 2191 Bace1 beta-secretase 1 gene DOID:5419 schizophrenia ISS RGD:1332039 D RGD:13592920 20180518 MouseDO OMIM:181500 2191 Bace1 beta-secretase 1 gene DOID:630 genetic disease ISO RGD:1606566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2191 Bace1 beta-secretase 1 gene DOID:9001585 Intraventricular Hemorrhage IEP D RGD:13782136|PMID:30028260 20180822 RGD protein:increased expression:hippocampus 2191 Bace1 beta-secretase 1 gene DOID:9002211 Hyperalgesia IMP D RGD:13782150|PMID:28012171 20180823 RGD 2191 Bace1 beta-secretase 1 gene DOID:9002775 Cognitive Dysfunction IEP D RGD:13782059|PMID:28455102 20180817 RGD associated with Sleep Deprivation 2191 Bace1 beta-secretase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606566 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2191 Bace1 beta-secretase 1 gene DOID:9007661 Dwarfism ISO RGD:1606566 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2191 Bace1 beta-secretase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:13782142|PMID:28683457 20180822 RGD protein:increased expression:hippocampus 2191 Bace1 beta-secretase 1 gene DOID:9007980 Sleep Deprivation IEP D RGD:13782059|PMID:28455102 20180822 RGD protein:increased expression:brain: 2191 Bace1 beta-secretase 1 gene DOID:9009105 HIV Encephalitis ISO RGD:1606566 D RGD:13782045|PMID:29632166 20180815 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA:increases expression:mitral valve, heart (rat) 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:0060071 pre-malignant neoplasm treatment IDA D RGD:13792594|PMID:29588340 20180914 RGD associated with gastric adenocarcinoma 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:0060108 brain glioma treatment IDA D RGD:13792598|PMID:29324390 20180917 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:0060108 brain glioma treatment IEP D RGD:13792502|PMID:27255231 20180911 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:70373 D RGD:1643354|PMID:17575222 20071231 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:70373 D RGD:2292907|PMID:18444130 20080506 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70373 D RGD:1643355|PMID:17454944 20071231 RGD protein:increased expression:prostate gland epithelium 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:70373 D RGD:127284846|PMID:29408335 20210610 RGD human cells in mouse model 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease IEP D RGD:10054047|PMID:16265626 20150723 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease IEP D RGD:2293073|PMID:17639989 20080508 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:10054039|PMID:8990132 20150722 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10054049|PMID:21585051 20150723 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782186|PMID:29777699 20180827 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782188|PMID:29587274 20180827 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:10763 hypertension treatment IEP D RGD:10053702|PMID:20065158 20150720 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:70373 D RGD:2296023|PMID:18452128 20080623 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:114 heart disease IEP D RGD:2314021|PMID:19820199 20091030 RGD associated with Diabetes Mellitus, Experimental 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:11476 osteoporosis treatment IEP D RGD:10054093|PMID:22648569 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:10226 D RGD:734632|PMID:7569956 20150129 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:127 leiomyoma treatment IEP D RGD:10054112|PMID:23789224 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:70373 D RGD:14394817|PMID:19898928 20190401 RGD DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease IEP D RGD:10054041|PMID:11299004 20150722 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease treatment IEP D RGD:10054048|PMID:18938217 20150723 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy treatment IEP D RGD:10054117|PMID:23980359 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1307 dementia treatment IEP D RGD:10054040|PMID:21473886 20150722 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment IEP D RGD:13792503|PMID:27131981 20180911 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1520 colon carcinoma ISO RGD:70373 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1596 depressive disorder treatment IEP D RGD:10054142|PMID:21308783 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1612 breast cancer disease_progression ISO RGD:70373 D RGD:1643353|PMID:17626754 20071231 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1686 glaucoma IEP D RGD:10054098|PMID:24357921 20150727 RGD mRNA:increased expression:optic nerve, retina 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1824 status epilepticus treatment IEP D RGD:10054246|PMID:22849356 20150730 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:1875 impotence treatment IEP D RGD:10053666|PMID:21235725 20150717 RGD associated with Diabetes Mellitus, Experimental 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:2055 post-traumatic stress disorder IEP D RGD:10054113|PMID:23381833 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:224 transient cerebral ischemia treatment IEP D RGD:10054102|PMID:21167243 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:234 colon adenocarcinoma susceptibility ISO RGD:70373 D RGD:734633|PMID:9020077 20070202 RGD DNA:frameshift mutation: ; 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:2560 morphine dependence treatment IDA D RGD:10054248|PMID:24906198 20150730 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:289 endometriosis treatment IDA D RGD:7257718|PMID:23406865 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure treatment IEP D RGD:10053672|PMID:20037173 20150717 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:326 ischemia ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3307 teratoma disease_progression ISO RGD:70373 D RGD:2296025|PMID:17390059 20080623 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10226 D RGD:13506907|PMID:10582606 20180222 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:10226 D RGD:13506800|PMID:21193837 20180216 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:10226 D RGD:13506805|PMID:20195368 20180216 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10226 D RGD:13506797|PMID:24699224 20180216 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10226 D RGD:13506803|PMID:20890041 20180216 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10054501|PMID:23143152 20150810 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3669 intermittent claudication IEP D RGD:9586024|PMID:23658678 20150720 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3744 cervical squamous cell carcinoma ISO RGD:70373 D RGD:1643352|PMID:17694953 20071231 RGD protein:increased expression:uterine cervix 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70373 D RGD:150404268|PMID:23632475 20210903 RGD human cells in mouse model 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:4448 macular degeneration ISO RGD:70373 D RGD:10043353|PMID:20054800 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70373 D RGD:15036804|PMID:28551630 20191115 RGD mRNA, protein:increased expression:kidney 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:1579984|PMID:12234300 19990101 RGD mRNA, protein:increased expression:kidney 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:5295 intestinal disease treatment IEP D RGD:10058972|PMID:24228095 20150811 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:5434 scrapie ISO RGD:10226 D RGD:13782156|PMID:27921253 20180824 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:70373 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9531611 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20079142|PMID:25450231 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:6000 congestive heart failure treatment IEP D RGD:10054097|PMID:18097624 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:6000 congestive heart failure treatment IEP D RGD:13792577|PMID:29746994 20180913 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:630 genetic disease ISO RGD:70373 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:649 prion disease ISO RGD:10226 D RGD:13782157|PMID:15618403 20180824 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:7166 thyroiditis IEP D RGD:10054115|PMID:20968180 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:10053643|PMID:19217321 20150716 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:10054095|PMID:16864079 20150727 RGD protein:increased expression:chondrocyte 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:8466 retinal degeneration IEP D RGD:11522757|PMID:24166353 20160808 RGD protein:increased expression:retina (rat) 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9000027 Microsatellite Instability ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:13792677|PMID:27256506 20180919 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment IEP D RGD:13792505|PMID:26769958 20180911 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:70373 D RGD:1643356|PMID:17288732 20071231 RGD associated with Carcinoma, Infiltrating Duct 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9000998 Brain Injuries treatment IEP D RGD:10054247|PMID:20888848 20150730 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:11555349|PMID:26754107 20180906 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment IEP D RGD:10053711|PMID:23056591 20150720 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10053673|PMID:22647552 20150717 RGD mRNA:increased expression:liver 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10053710|PMID:22847887 20150720 RGD associated with Non-alcoholic Fatty Liver Disease 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:5134995|PMID:21092002 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002221 Hyperplasia ISO RGD:10226 D RGD:734632|PMID:7569956 19990101 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:10054114|PMID:22932950 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12663524 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10226 D RGD:2291908|PMID:18317887 20080506 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17542986 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment IEP D RGD:6907382|PMID:20131282 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis IEP D RGD:10054249|PMID:21199477 20150730 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:10054498|PMID:22978269 20150810 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10226 D RGD:6480478|PMID:21359432 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17404573 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20385067 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:10054502|PMID:21189961 20150810 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:13782292|PMID:29635023 20180911 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:155882465|PMID:24089674 20230124 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury IEP D RGD:2290557|PMID:18083315 20080508 RGD protein:increased expression:brain 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury IEP D RGD:2293026|PMID:18221257 20080507 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:70373 D RGD:10054094|PMID:16511931 20150727 RGD protein:increased expression:articular cartilage, chondrocyte 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9004610 Acute Lung Injury IEP D RGD:10054109|PMID:20663300 20150728 RGD associated with Endotoxemia 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment IEP D RGD:10054050|PMID:18938189 20150723 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms severity IEP D RGD:10053708|PMID:20732338 20150720 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311240|PMID:18991018 20091030 RGD protein:increased expression:retina 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10054099|PMID:23267840 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9005930 Endotoxemia IEP D RGD:10054120|PMID:23940949 20150728 RGD mRNA:increased expression:diaphragm 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:10054101|PMID:23151253 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10226 D RGD:153350155|PMID:34238924 20220914 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:10054119|PMID:23953793 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10226 D RGD:156430337|PMID:36044268 20230228 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:10054500|PMID:22014268 20150810 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10226 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17906064 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007730 Burns treatment IEP D RGD:10054126|PMID:22153006 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20026869 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:10054103|PMID:21223820 20150727 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782178|PMID:25547710 20180827 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220923 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9008091 Optic Nerve Injuries IEP D RGD:10054098|PMID:24357921 20150727 RGD mRNA:increased expression:optic nerve, retina 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:70373 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9008622 Adrenal Insufficiency IEP D RGD:6482719|PMID:21161352 20150728 RGD associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9008824 Sarcopenia IEP D RGD:2325745|PMID:17029665 20150727 RGD mRNA:decreased expression:plantaris 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:70373 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22572619 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9008975 Gastrointestinal Hemorrhage treatment IEP D RGD:10058975|PMID:24058648 20150811 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9256 colorectal cancer ISO RGD:70373 D RGD:7240710 20200226 OMIM 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:70373 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:10054139|PMID:22543177 20150728 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70373 D RGD:7240710 20230505 OMIM 2192 Bax BCL2 associated X, apoptosis regulator gene DOID:9965 toxoplasmosis IEP D RGD:10054127|PMID:24812878 20150728 RGD 2194 Bcan brevican gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 2194 Bcan brevican gene DOID:0111940 immunodeficiency 42 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2194 Bcan brevican gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2194 Bcan brevican gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2194 Bcan brevican gene DOID:10584 retinitis pigmentosa severity ISO RGD:736888 D RGD:14392802|PMID:29150673 20190301 RGD 2194 Bcan brevican gene DOID:10652 Alzheimer's disease ISO RGD:10227 D RGD:14392785|PMID:20180882 20190228 RGD protein:altered modification:brain 2194 Bcan brevican gene DOID:1540 parathyroid carcinoma ISO RGD:736888 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2194 Bcan brevican gene DOID:3070 high grade glioma IEP D RGD:14392782|PMID:12799382 20190228 RGD protein:increased expression:brain: 2194 Bcan brevican gene DOID:3070 high grade glioma ISO RGD:736888 D RGD:14392797|PMID:16061654 20190301 RGD protein:increased expression:brain: 2194 Bcan brevican gene DOID:3070 high grade glioma severity IDA D RGD:14392783|PMID:11585735 20190228 RGD 2194 Bcan brevican gene DOID:3070 high grade glioma severity ISO RGD:736888 D RGD:14392804|PMID:23253190 20190301 RGD 2194 Bcan brevican gene DOID:3525 middle cerebral artery infarction IEP D RGD:9590118|PMID:15869933 20190227 RGD 2194 Bcan brevican gene DOID:5812 MHC class II deficiency ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2194 Bcan brevican gene DOID:630 genetic disease ISO RGD:736888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2194 Bcan brevican gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:9589823|PMID:15016081 20190301 RGD 2194 Bcan brevican gene DOID:9000115 Posthemorrhagic Hydrocephalus treatment ISO RGD:736888 D RGD:6483013|PMID:22186713 20190227 RGD 2194 Bcan brevican gene DOID:9002189 High Myopia ISO RGD:736888 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 2194 Bcan brevican gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:14392799|PMID:15817274 20190301 RGD 2194 Bcan brevican gene DOID:9008941 Muscle Hypertonia ISO RGD:12122555 D RGD:9068941 20230128 OMIA Episodic falling PMID:15971896|PMID:21821125|PMID:22253609|PMID:25441627|PMID:30650096|PMID:36086931|PMID:3680644|PMID:3716135|PMID:6868317 2194 Bcan brevican gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736888 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2195 Bcat1 branched chain amino acid transaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1345403 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2195 Bcat1 branched chain amino acid transaminase 1 gene DOID:13580 cholestasis ISO RGD:1345403 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 2195 Bcat1 branched chain amino acid transaminase 1 gene DOID:630 genetic disease ISO RGD:1345403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2195 Bcat1 branched chain amino acid transaminase 1 gene DOID:9000998 Brain Injuries IEP D RGD:631308|PMID:10686349 20070205 RGD Protein:increased expression:neurons 2195 Bcat1 branched chain amino acid transaminase 1 gene DOID:9004657 Weight Gain ISO RGD:1345403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:2340 craniosynostosis ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:630 genetic disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17922217|PMID:1867199|PMID:1885764|PMID:1943689|PMID:20136525|PMID:20301495|PMID:21098507|PMID:2241958|PMID:22593002|PMID:22727569|PMID:25333063|PMID:25741868|PMID:26257134|PMID:26830710|PMID:2703538|PMID:28170084|PMID:28492532|PMID:31980395|PMID:31998365|PMID:32812330|PMID:33300147|PMID:8037208|PMID:9582350 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599467|PMID:9460082 20070205 RGD protein:increased expression:liver 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9008834 Maple Syrup Urine Disease, Type 1A ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:10694918|PMID:10745006|PMID:11069910|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20301495|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23765052|PMID:24374108|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32193832|PMID:32812330|PMID:33300147|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:7240710 20160713 OMIM 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:734637|PMID:1943689 20150129 RGD 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:737779|PMID:8037208 19990101 RGD 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 2196 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:19763152|PMID:20136525|PMID:20301495|PMID:20307669|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:22406018|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32005694|PMID:32193832|PMID:32812330|PMID:33300147|PMID:34556729|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22326532|PMID:22593002|PMID:25255367|PMID:25381949|PMID:25741868|PMID:26257134|PMID:26453840|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28492532|PMID:29307017|PMID:31119508|PMID:31980395|PMID:33300147|PMID:34556729|PMID:35281663 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599467|PMID:9460082 20070205 RGD Protein:increased expression:liver; 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9007006 Maple Syrup Urine Disease, Type 1B ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26830710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:30228974|PMID:31112740|PMID:31980395|PMID:32812330|PMID:33131499|PMID:34556729|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:1599466|PMID:2022752 20070205 RGD DNA:deletion mutation:exon 1; 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:7240710 20130221 OMIM 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:34556729|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 2197 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:0060041 autism spectrum disorder ISS RGD:69215 D RGD:13592920 20190516 MouseDO 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:39131293|PMID:27472223 20201012 RGD DNA:missense mutation:cds:G369E (rat) 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:7240710 20140903 OMIM 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:17576681|PMID:22956686|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:1059 intellectual disability ISO RGD:69214 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:14228 oligospermia IAGP D RGD:39131293|PMID:27472223 20201012 RGD DNA:missense mutation:cds:G369E (rat) 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:1826 epilepsy ISO RGD:69214 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:630 genetic disease ISO RGD:69214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2198 Bckdk branched chain ketoacid dehydrogenase kinase gene DOID:9269 maple syrup urine disease ISO RGD:69214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:25741868|PMID:35205278 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733100 D RGD:11535375|PMID:26581505 20220825 RGD protein:increased expression:tongue (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3287162|PMID:12855623 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:734639|PMID:3287162 19990101 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:733100 D RGD:1599473|PMID:16671111 20070205 RGD DNA:translocation: ;t(14;18)(q32;q21) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3287162|PMID:26239085 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:733100 D RGD:2289659|PMID:12628841 20080507 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0060108 brain glioma treatment IDA D RGD:13792598|PMID:29324390 20180917 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0060108 brain glioma treatment IEP D RGD:13792502|PMID:27255231 20180911 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 2199 Bcl2 BCL2, apoptosis regulator gene DOID:0111142 oligomeganephronia ISS RGD:10230 D RGD:13592920 20180809 MouseDO 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:733100 D RGD:2292512|PMID:16984224 20201023 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:733100 D RGD:2293015|PMID:18084610 20080507 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10283 prostate cancer disease_progression ISO RGD:733100 D RGD:2293017|PMID:17850375 20080507 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:733100 D RGD:127284846|PMID:29408335 20210610 RGD human cells in mouse model 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease IEP D RGD:10054047|PMID:16265626 20150723 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease IEP D RGD:2293073|PMID:17639989 20080508 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:10053642|PMID:9507158 20150723 RGD protein:increased expression:temporal cortex, membrane 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IDA D RGD:11522767|PMID:26897372 20160808 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10054049|PMID:21585051 20150723 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782186|PMID:29777699 20180827 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782188|PMID:29587274 20180827 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10763 hypertension ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10075388 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10763 hypertension treatment IEP D RGD:10053702|PMID:20065158 20150720 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10808 gastric ulcer treatment IDA D RGD:10053695|PMID:24378970 20150720 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:10941 intracranial aneurysm treatment ISO RGD:733100 D RGD:11522723|PMID:25316629 20160804 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:2293014|PMID:18094410 20080507 RGD DNA:hypermethylation:promoter 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11054 urinary bladder cancer severity ISO RGD:733100 D RGD:2292910|PMID:18342927 20080506 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11476 osteoporosis treatment IEP D RGD:10054093|PMID:22648569 20150727 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11612 polycystic ovary syndrome IEP D RGD:10054496|PMID:21062263 20150810 RGD protein:increased expression:ovary 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:13792650|PMID:25820375 20180919 RGD protein:decreased expression:cardiomyocyte 2199 Bcl2 BCL2, apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733100 D RGD:11558015|PMID:25209900 20161216 RGD protein:decreased expression:heart 2199 Bcl2 BCL2, apoptosis regulator gene DOID:12336 male infertility ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 2199 Bcl2 BCL2, apoptosis regulator gene DOID:127 leiomyoma ISO RGD:733100 D RGD:1643479|PMID:16962107 20080507 RGD protein:increased expression:myometrium 2199 Bcl2 BCL2, apoptosis regulator gene DOID:127 leiomyoma treatment IEP D RGD:10054112|PMID:23789224 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:12849 autistic disorder ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11814262|PMID:20375269 2199 Bcl2 BCL2, apoptosis regulator gene DOID:12858 Huntington's disease IEP D RGD:10054041|PMID:11299004 20150722 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1307 dementia treatment IEP D RGD:10054040|PMID:21473886 20150722 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:14018 alcoholic liver cirrhosis ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 2199 Bcl2 BCL2, apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment IEP D RGD:13792503|PMID:27131981 20180911 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:14227 azoospermia ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20610805 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1686 glaucoma IEP D RGD:10054098|PMID:24357921 20150727 RGD mRNA:decreased expression:optic nerve, retina 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1749 squamous cell carcinoma disease_progression IEP D RGD:1599477|PMID:16309543 20070205 RGD Protein:increased expression:tongue;associated with mouth neoplasms 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1790 malignant mesothelioma ISO RGD:733100 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:16850164 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1824 status epilepticus IEP D RGD:2293065|PMID:18076646 20080508 RGD protein:decreased expression:hippocampus 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1824 status epilepticus treatment IDA D RGD:11522734|PMID:22842798 20160805 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1875 impotence IDA D RGD:1579980|PMID:12394778 19990101 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1875 impotence ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1875 impotence treatment IEP D RGD:10053666|PMID:21235725 20150717 RGD associated with Diabetes Mellitus, Experimental 2199 Bcl2 BCL2, apoptosis regulator gene DOID:1909 melanoma severity ISO RGD:733100 D RGD:11526106|PMID:8783649 20160809 RGD protein:increased expression:lymph node (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2055 post-traumatic stress disorder IEP D RGD:10054113|PMID:23381833 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:219 colon cancer treatment IDA D RGD:10053668|PMID:21214291 20150717 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:224 transient cerebral ischemia IEP D RGD:2290557|PMID:18083315 20080508 RGD protein:decreased expression:brain 2199 Bcl2 BCL2, apoptosis regulator gene DOID:224 transient cerebral ischemia treatment IDA D RGD:11522725|PMID:16732092 20160804 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:224 transient cerebral ischemia treatment IEP D RGD:11561910|PMID:22509406 20161110 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2256 osteochondrodysplasia ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2316 brain ischemia treatment IDA D RGD:11522731|PMID:15585409 20160805 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:234 colon adenocarcinoma treatment ISO RGD:733100 D RGD:125097526|PMID:32504672 20210525 RGD human cells in mouse model 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2560 morphine dependence treatment IEP D RGD:10054248|PMID:24906198 20150730 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2671 transitional cell carcinoma ISO RGD:733100 D RGD:1643477|PMID:18047955 20080731 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2741 bilirubin metabolic disorder IEP D RGD:11522763|PMID:26459859 20160808 RGD protein:decreased expression:platelet (rat) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2773 contact dermatitis ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2199 Bcl2 BCL2, apoptosis regulator gene DOID:2841 asthma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 2199 Bcl2 BCL2, apoptosis regulator gene DOID:289 endometriosis ISO RGD:733100 D RGD:2293018|PMID:17693084 20080507 RGD protein:increased expression:endometrium 2199 Bcl2 BCL2, apoptosis regulator gene DOID:289 endometriosis treatment IDA D RGD:11353846|PMID:25937801 20160805 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:289 endometriosis treatment IDA D RGD:7257718|PMID:23406865 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:299 adenocarcinoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 2199 Bcl2 BCL2, apoptosis regulator gene DOID:3021 acute kidney failure IEP D RGD:10053672|PMID:20037173 20150717 RGD protein:increased expression:kidney 2199 Bcl2 BCL2, apoptosis regulator gene DOID:3042 allergic contact dermatitis ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 2199 Bcl2 BCL2, apoptosis regulator gene DOID:305 carcinoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 2199 Bcl2 BCL2, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10230 D RGD:13506907|PMID:10582606 20180222 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10054501|PMID:23143152 20150810 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:3721 plasmacytoma susceptibility ISO RGD:733100 D RGD:11526108|PMID:14695177 20160809 RGD human gene in a mouse model 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4450 renal cell carcinoma ISO RGD:733100 D RGD:2298896|PMID:18283311 20080731 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733100 D RGD:2293019|PMID:17482919 20080507 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4468 clear cell adenocarcinoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4481 allergic rhinitis IEP D RGD:11522724|PMID:15362690 20160804 RGD mRNA, protein:increased expression:nasal mucosa (rat) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:1579984|PMID:12234300 20180403 RGD mRNA, protein:decreased expression:kidney 2199 Bcl2 BCL2, apoptosis regulator gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:733100 D RGD:126925218|PMID:21472143 20210517 RGD DNA:SNPs:3'utr: (rs720321, rs17757541) (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:5295 intestinal disease treatment IDA D RGD:10058972|PMID:24228095 20150811 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733100 D RGD:13673911|PMID:26311051 20180705 RGD DNA:SNP: :rs2279115(human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:5485 synovial sarcoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16450387 2199 Bcl2 BCL2, apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733100 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 2199 Bcl2 BCL2, apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 2199 Bcl2 BCL2, apoptosis regulator gene DOID:6000 congestive heart failure treatment IEP D RGD:10054097|PMID:18097624 20150727 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:6000 congestive heart failure treatment IEP D RGD:13792577|PMID:29746994 20180913 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:630 genetic disease ISO RGD:733100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2199 Bcl2 BCL2, apoptosis regulator gene DOID:6432 pulmonary hypertension IEP D RGD:2293022|PMID:18441466 20080507 RGD protein:decreased expression:heart right ventricle 2199 Bcl2 BCL2, apoptosis regulator gene DOID:657 adenoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10426811 2199 Bcl2 BCL2, apoptosis regulator gene DOID:684 hepatocellular carcinoma ISO RGD:10230 D RGD:127285675|PMID:28100771 20210628 RGD mRNA:increased expression:liver (mouse) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:783 end stage renal disease treatment IDA D RGD:11522730|PMID:20424483 20160805 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:10053643|PMID:19217321 20150716 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:10054095|PMID:16864079 20150727 RGD protein:increased expression:chondrocyte 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8466 retinal degeneration IEP D RGD:11522757|PMID:24166353 20160808 RGD protein:increased expression:retina (rat) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8692941 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8466 retinal degeneration treatment ISO RGD:733100 D RGD:8554863|PMID:10704489 20140509 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8927 learning disability ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 2199 Bcl2 BCL2, apoptosis regulator gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:733100 D RGD:2298889|PMID:18561741 20080731 RGD protein:increased expression:uterine cervix 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16904648 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:13792677|PMID:27256506 20180919 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:733100 D RGD:2293013|PMID:18217456 20080507 RGD associated with Breast Neoplasms;protein:increased expression:lymph node 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000156 Metaplasia ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12704018 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment IDA D RGD:13792505|PMID:26769958 20180911 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:13782347|PMID:26163325 20180906 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000918 Disease Progression ISO RGD:733100 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:16081686|PMID:21750559 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:2293020|PMID:16826579 20080507 RGD associated with Breast Neoplasms 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:2293021|PMID:12810203 20080507 RGD associated with Carcinoma, Renal Cell 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000998 Brain Injuries IMP D RGD:2293059|PMID:18093155 20080508 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9000998 Brain Injuries treatment IEP D RGD:10054247|PMID:20888848 20150730 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:11555349|PMID:26754107 20180906 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2293129|PMID:17938867 20160808 RGD mRNA:increased expression:liver (rat) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:10054116|PMID:24218972 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733100 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2293072|PMID:17693937 20080508 RGD mRNA:increased expression:intestine 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:11522737|PMID:25535961 20160805 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:10053710|PMID:22847887 20150720 RGD associated with Non-alcoholic Fatty Liver Disease 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:5134995|PMID:21092002 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733100 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21750559|PMID:23770605 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:733100 D RGD:11526105|PMID:17959858 20160809 RGD DNA:snp:promoter:g.-938C>A (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:11526104|PMID:16960146 20160809 RGD DNA:snp:promoter:g.-938C>A (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:11526110|PMID:20001236 20160809 RGD protein:increased expression:B cell (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:733100 D RGD:11522735|PMID:17296974 20160805 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:10054114|PMID:22932950 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002283 Experimental Allergic Asthma treatment IEP D RGD:13792581|PMID:29713367 20180913 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10230 D RGD:2291908|PMID:18317887 20080506 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16733517 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment IEP D RGD:6907382|PMID:20131282 20150727 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002395 Hypothermia IEP D RGD:10402397|PMID:25996932 20160809 RGD mRNA:increased expression:prostate gland ventral lobe (rat) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002457 Experimental Arthritis IEP D RGD:10054249|PMID:21199477 20150730 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:10054498|PMID:22978269 20150810 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10230 D RGD:6480478|PMID:21359432 20150727 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733100 D RGD:2298897|PMID:18006758 20080731 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002928 Colonic Neoplasms IEP D RGD:2293078|PMID:17404573 20080508 RGD mRNA:increased expression:colon 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:17404573|PMID:19147571 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11146106|PMID:17967740 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:10054502|PMID:21189961 20150810 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:13782292|PMID:29635023 20180911 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:155882465|PMID:24089674 20230124 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15449323 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:733100 D RGD:10054094|PMID:16511931 20150727 RGD protein:increased expression:articular cartilage, chondrocyte 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9004610 Acute Lung Injury IEP D RGD:10054109|PMID:20663300 20150728 RGD associated with Endotoxemia 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment IEP D RGD:10054050|PMID:18938189 20150723 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10054128|PMID:22668016 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005539 Familial Prostate Cancer ISO RGD:733100 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005562 AIDS-Related Kaposi Sarcoma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10861090 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599491|PMID:15649569 20070206 RGD mRNA:decreased expression:embryo 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311240|PMID:18991018 20090630 RGD protein:increased expression:retina 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:23090186 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005749 Necrosis ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11781163|PMID:16532269 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005873 Tongue Neoplasms IEP D RGD:8547871|PMID:12167434 20140227 RGD protein:increased expression:tongue: 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9005930 Endotoxemia IEP D RGD:10054120|PMID:23940949 20150728 RGD mRNA:decreased expression:diaphragm 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:2293026|PMID:18221257 20080507 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:13792599|PMID:29285062 20180917 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:10054119|PMID:23953793 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:733100 D RGD:40902860|PMID:26541527 20201214 RGD protein:increased expression:natural killer cell, T cell (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:10230 D RGD:11522727|PMID:21474815 20160804 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:10053697|PMID:21296063 20150720 RGD associated with Diabetes Mellitus, Experimental 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:10054500|PMID:22014268 20150810 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10230 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16450387 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2543982|PMID:2848196|PMID:22666341 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:733100 D RGD:2298890|PMID:18386458 20080731 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007730 Burns treatment IEP D RGD:10054126|PMID:22153006 20150728 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1599484|PMID:16289365 20070206 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:10053674|PMID:23364609 20150717 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:11561911|PMID:20821058 20161110 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220923 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008023 Memory Disorders ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008091 Optic Nerve Injuries IEP D RGD:10054098|PMID:24357921 20150727 RGD mRNA:decreased expression:optic nerve, retina 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008622 Adrenal Insufficiency IEP D RGD:6482719|PMID:21161352 20150728 RGD associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008824 Sarcopenia IEP D RGD:2325745|PMID:17029665 20150727 RGD mRNA:decreased expression:plantaris 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12517783|PMID:16954440|PMID:23621182 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:2292909|PMID:18427947 20080506 RGD associated with Papillomavirus Infections;protein:increased expression:breast 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:2292908|PMID:18430249 20080506 RGD protein:increased expression:breast 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:2293016|PMID:17908970 20080507 RGD DNA:polymorphism:promoter:-938C>A 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9119 acute myeloid leukemia ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23906301 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:11526109|PMID:25216797 20160809 RGD ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:11526111|PMID:19520430 20160809 RGD DNA:snp:exon:c.+21A>G (rs1801018) (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733100 D RGD:11526107|PMID:25957891 20160809 RGD DNA:snp:promoter:g.-938C>A (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733100 D RGD:11526103|PMID:12099337 20160809 RGD protein:increased expression:epithelium of nasopharynx (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9286 priapism IEP D RGD:10412315|PMID:21085184 20160808 RGD protein:increased expression:erectile tissue (rat) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10053698|PMID:23032698 20150720 RGD 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:733100 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:31626838 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9538 multiple myeloma ISO RGD:733100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9655 oral mucosa leukoplakia IEP D RGD:8547871|PMID:12167434 20140227 RGD protein:increased expression:tongue: 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:733100 D RGD:11076595|PMID:25982455 20160809 RGD mRNA:increased expression:bone marrow (human) 2199 Bcl2 BCL2, apoptosis regulator gene DOID:9970 obesity IEP D RGD:2293027|PMID:18202171 20080507 RGD mRNA, protein:decreased expression:heart left ventricle 2200 Bcl2l1 Bcl2-like 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735516 D RGD:11353854|PMID:8625322 20160725 RGD protein:increased expression:colonic mucosa (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735516 D RGD:153344573|PMID:34111459 20220826 RGD mRNA, protein:increased expression:mouth (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2200 Bcl2l1 Bcl2-like 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma severity ISO RGD:1552009 D RGD:11531108|PMID:18216295 20160826 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:10286 prostate carcinoma ISO RGD:735516 D RGD:1643474|PMID:17653717 20080109 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:1037 lymphoid leukemia ISO RGD:735516 D RGD:11353857|PMID:21998213 20160725 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735516 D RGD:150520156|PMID:26432329 20211026 RGD human cells in mouse model 2200 Bcl2l1 Bcl2-like 1 gene DOID:10652 Alzheimer's disease ISO RGD:735516 D RGD:10053642|PMID:9507158 20150716 RGD protein:increased expression:temporal cortex, membrane 2200 Bcl2l1 Bcl2-like 1 gene DOID:10808 gastric ulcer treatment IDA D RGD:10053695|PMID:24378970 20150720 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:735516 D RGD:2292910|PMID:18342927 20080506 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:11383 cryptorchidism ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 2200 Bcl2l1 Bcl2-like 1 gene DOID:127 leiomyoma ISO RGD:735516 D RGD:1643479|PMID:16962107 20080507 RGD associated with Carcinoma, Renal Cell;protein:increased expression:myometrium 2200 Bcl2l1 Bcl2-like 1 gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:1380 endometrial cancer ISO RGD:735516 D RGD:1643476|PMID:17311011 20080109 RGD protein:increased expression:endometrium 2200 Bcl2l1 Bcl2-like 1 gene DOID:13955 uterus interstitial leiomyoma ISO RGD:735516 D RGD:1643479|PMID:16962107 20080110 RGD associated with Carcinoma, Renal Cell;protein:increased expression:uterus 2200 Bcl2l1 Bcl2-like 1 gene DOID:1596 depressive disorder treatment IEP D RGD:10054142|PMID:21308783 20150728 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:1612 breast cancer ISO RGD:735516 D RGD:1643481|PMID:16850344 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:1793 pancreatic cancer ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904634 2200 Bcl2l1 Bcl2-like 1 gene DOID:1793 pancreatic cancer severity ISO RGD:735516 D RGD:11353794|PMID:17941720 20160721 RGD human gene in a mouse model 2200 Bcl2l1 Bcl2-like 1 gene DOID:1824 status epilepticus IEP D RGD:11352818|PMID:24051278 20160722 RGD mRNA:increased expression:dentate gyrus (rat) 2200 Bcl2l1 Bcl2-like 1 gene DOID:1875 impotence IDA D RGD:1579980|PMID:12394778 19990101 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:1875 impotence ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 2200 Bcl2l1 Bcl2-like 1 gene DOID:1909 melanoma disease_progression ISO RGD:735516 D RGD:11353861|PMID:17384650 20160725 RGD protein:increased expression:skin, subcutaneous tissue (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:735516 D RGD:1643482|PMID:15717629 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:2316 brain ischemia IEP D RGD:10053716|PMID:22843461 20150720 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:2316 brain ischemia IEP D RGD:1643491|PMID:17706879 20080110 RGD protein:increased expression:cerebral cortex 2200 Bcl2l1 Bcl2-like 1 gene DOID:2671 transitional cell carcinoma ISO RGD:735516 D RGD:1643477|PMID:18047955 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:289 endometriosis treatment IDA D RGD:11353846|PMID:25937801 20160725 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:3021 acute kidney failure IEP D RGD:10053672|PMID:20037173 20150717 RGD protein:increased expression:kidney 2200 Bcl2l1 Bcl2-like 1 gene DOID:305 carcinoma ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 2200 Bcl2l1 Bcl2-like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735516 D RGD:11353864|PMID:22686245 20160725 RGD mRNA:increased expression:peripheral blood, neutrophil (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1552009 D RGD:13506907|PMID:10582606 20180222 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:332 amyotrophic lateral sclerosis treatment IMP D RGD:13506902|PMID:18543336 20180221 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:3459 breast carcinoma ISO RGD:735516 D RGD:1643480|PMID:16886624 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:3602 toxic encephalopathy ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2200 Bcl2l1 Bcl2-like 1 gene DOID:409 liver disease ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2200 Bcl2l1 Bcl2-like 1 gene DOID:4362 cervical cancer ISO RGD:735516 D RGD:1643476|PMID:17311011 20080109 RGD protein:increased expression:uterine cervix 2200 Bcl2l1 Bcl2-like 1 gene DOID:4450 renal cell carcinoma ISO RGD:735516 D RGD:1643483|PMID:12025227 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735516 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2200 Bcl2l1 Bcl2-like 1 gene DOID:5844 myocardial infarction IMP D RGD:1643494|PMID:17467744 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:5844 myocardial infarction ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 2200 Bcl2l1 Bcl2-like 1 gene DOID:630 genetic disease ISO RGD:735516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2200 Bcl2l1 Bcl2-like 1 gene DOID:6432 pulmonary hypertension treatment IDA D RGD:10400914|PMID:22559233 20160725 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:6536 plasma cell neoplasm severity ISO RGD:1552009 D RGD:11353872|PMID:15725478 20160726 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:657 adenoma ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 2200 Bcl2l1 Bcl2-like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1552009 D RGD:127285675|PMID:28100771 20210628 RGD mRNA:increased expression:liver (mouse) 2200 Bcl2l1 Bcl2-like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10629087|PMID:11509945 2200 Bcl2l1 Bcl2-like 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:74 hematopoietic system disease severity ISO RGD:735516 D RGD:11353871|PMID:12111784 20160726 RGD protein:altered expression:mononuclear cell of bone marrow (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735516 D RGD:11353850|PMID:20728382 20160725 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:8997 polycythemia vera ISO RGD:735516 D RGD:11353849|PMID:9475763 20160725 RGD protein:increased expression:bone marrow, erythroid cell (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26401016 2200 Bcl2l1 Bcl2-like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1552009 D RGD:11353865|PMID:22414765 20160725 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735516 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 2200 Bcl2l1 Bcl2-like 1 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:1643525|PMID:17224795 20080110 RGD protein:increased expression:liver, mitochondrion 2200 Bcl2l1 Bcl2-like 1 gene DOID:9001725 Retina Reperfusion Injury treatment IEP D RGD:10053711|PMID:23056591 20150720 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10053710|PMID:22847887 20150720 RGD associated with Non-alcoholic Fatty Liver Disease 2200 Bcl2l1 Bcl2-like 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 2200 Bcl2l1 Bcl2-like 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735516 D RGD:1643478|PMID:17675586 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:10053669|PMID:24195677 20150717 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9004538 Hearing Loss ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17697574 2200 Bcl2l1 Bcl2-like 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16007126 2200 Bcl2l1 Bcl2-like 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2292685|PMID:17870134 20080502 RGD protein:decreased expression, altered activity:testis 2200 Bcl2l1 Bcl2-like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 2200 Bcl2l1 Bcl2-like 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 2200 Bcl2l1 Bcl2-like 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735516 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell,t cell (human) PMID:26541527|REF_RGD_ID:40902860 2200 Bcl2l1 Bcl2-like 1 gene DOID:9007096 Stroke ISO RGD:1552009 D RGD:11353792|PMID:17301160 20160721 RGD protein:altered localization:cerebral cortex (mouse) 2200 Bcl2l1 Bcl2-like 1 gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:11353791|PMID:19331832 20160721 RGD protein:increased expression:pancreas, mitochondrion (rat) 2200 Bcl2l1 Bcl2-like 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:11035287|PMID:12668130 20160721 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735516 D RGD:1643478|PMID:17675586 20080110 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:735516 D RGD:11353851|PMID:11410409 20160725 RGD mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:9282 ocular hypertension IEP D RGD:1643493|PMID:17640403 20080110 RGD mRNA:increased expression:retina 2200 Bcl2l1 Bcl2-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 2200 Bcl2l1 Bcl2-like 1 gene DOID:9538 multiple myeloma ISO RGD:1552009 D RGD:11353847|PMID:14656874 20160725 RGD 2200 Bcl2l1 Bcl2-like 1 gene DOID:9538 multiple myeloma ISO RGD:735516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 2200 Bcl2l1 Bcl2-like 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735516 D RGD:11353866|PMID:19020783 20160725 RGD mRNA:increased expression:blood, mononuclear cell (human) 2200 Bcl2l1 Bcl2-like 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735516 D RGD:11353852|PMID:12469194 20160725 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:0050700 cardiomyopathy ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 2201 Bdkrb2 bradykinin receptor B2 gene DOID:0060903 thrombosis ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10247 pleurisy IMP D RGD:4891041|PMID:9208140 20110104 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:10232 D RGD:4891029|PMID:15316088 20110103 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10762 portal hypertension IMP D RGD:4891055|PMID:19950773 20110104 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension IEP D RGD:4890455|PMID:11934804 20101220 RGD protein:increased expression:spinal cord 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension IEP D RGD:704378|PMID:12025958 19990101 RGD mRNA:increased expression:hypothalamus 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:1331525|PMID:15118671 19990101 GAD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:4891034|PMID:10904024 20110103 RGD DNA:SNP:promoter:-58T>C (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:11446 sciatic neuropathy IEP D RGD:5129227|PMID:18182225 20110329 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:1826 epilepsy IDA D RGD:704381|PMID:12746865 20150129 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:2224 essential thrombocythemia ISO RGD:737386 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 2201 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma IMP D RGD:4890454|PMID:14727005 20101220 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:4891028|PMID:19038786 20110103 RGD protein:increased expression:blood, eosinophil 2201 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:4891042|PMID:8856156 20110104 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma onset ISO RGD:737386 D RGD:4890456|PMID:11517947 20101220 RGD DNA:polymorphism:exon (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:3021 acute kidney failure ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24975837 2201 Bdkrb2 bradykinin receptor B2 gene DOID:3070 high grade glioma IEP D RGD:4891047|PMID:20080302 20110104 RGD mRNA:increased expression:brain 2201 Bdkrb2 bradykinin receptor B2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737386 D RGD:4890451|PMID:16600946 19990101 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:3328 temporal lobe epilepsy ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15196965 2201 Bdkrb2 bradykinin receptor B2 gene DOID:4404 occupational dermatitis ISO RGD:737386 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 2201 Bdkrb2 bradykinin receptor B2 gene DOID:4483 rhinitis ISO RGD:737386 D RGD:4891033|PMID:11149999 20110103 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:4483 rhinitis ISO RGD:737386 D RGD:4891044|PMID:1890650 20110104 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:4971 myelofibrosis ISO RGD:737386 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 2201 Bdkrb2 bradykinin receptor B2 gene DOID:4989 pancreatitis IMP D RGD:4891025|PMID:7791078 20110103 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:552 pneumonia ISO RGD:10232 D RGD:4891030|PMID:15021973 20110103 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:5844 myocardial infarction IEP D RGD:704379|PMID:12489796 19990101 RGD mRNA:increased expression:heart 2201 Bdkrb2 bradykinin receptor B2 gene DOID:630 genetic disease ISO RGD:737386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2201 Bdkrb2 bradykinin receptor B2 gene DOID:6432 pulmonary hypertension IDA D RGD:4890453|PMID:15878794 20101220 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:7148 rheumatoid arthritis ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 2201 Bdkrb2 bradykinin receptor B2 gene DOID:850 lung disease IMP D RGD:4890457|PMID:10702448 20101220 RGD Lung Injury associated with Endotoxemia 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9000352 Vascular System Injuries ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9000641 Pain ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9001371 Eosinophilia ISO RGD:10232 D RGD:4891039|PMID:10385260 20110104 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10232 D RGD:2313335|PMID:17596525 20090917 RGD associated with Diabetes Mellitus, Experimental 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia IMP D RGD:2313332|PMID:19300402 20090917 RGD associated with Diabetic Neuropathy 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia IMP D RGD:4891040|PMID:10188975 20110104 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9002661 Diabetes Complications ISO RGD:10232 D RGD:7241550|PMID:20479236 20150729 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:704379|PMID:12489796 20101220 RGD mRNA:increased expression:heart 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9005372 Inflammation IMP D RGD:4891025|PMID:7791078 20110103 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:10232 D RGD:4891030|PMID:15021973 20110103 RGD associated with Asthma 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4890452|PMID:16138314 20101220 RGD protein:increased expression:hindbrain, spinal cord 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:704379|PMID:12489796 20101220 RGD mRNA:increased expression:heart 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1334354|PMID:16321614 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:4891024|PMID:9039147 20110103 RGD 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9006205 Animal Disease Models ISO RGD:737386 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:4891026|PMID:21052031 20110103 RGD DNA:SNP: :rs8012552 (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:4891031|PMID:12522467 20110103 RGD DNA:SNPs (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:4891034|PMID:10904024 20110103 RGD DNA:SNP:promoter:-58T>C (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:4891027|PMID:19744011 20110103 RGD DNA:SNPs (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:4891032|PMID:11699055 20110103 RGD DNA:SNP:promoter:-58T>C (human) 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737386 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9008217 Hemorrhage ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9008887 Microvascular Angina ISO RGD:737386 D RGD:4890450|PMID:17852785 20101220 RGD mRNA:increased expression:blood, mononuclear cell 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9009039 Hyperemia ISO RGD:737386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 2201 Bdkrb2 bradykinin receptor B2 gene DOID:9119 acute myeloid leukemia ISO RGD:737386 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 2202 Bdnf brain-derived neurotrophic factor gene DOID:0050742 nicotine dependence ISO RGD:731027 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 2202 Bdnf brain-derived neurotrophic factor gene DOID:0050848 obstructive sleep apnea ISO RGD:731027 D RGD:4891119|PMID:16061712 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:0060001 withdrawal disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12574402 2202 Bdnf brain-derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 2202 Bdnf brain-derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:12801412|PMID:21984201 20170329 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:0060180 colitis ISO RGD:10235 D RGD:8657331|PMID:19932037 20140604 RGD protein:increased expression:dorsal root ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:731027 D RGD:734643|PMID:11840487 19990101 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:11840487|PMID:25741868|PMID:28492532 2202 Bdnf brain-derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:731027 D RGD:8657066|PMID:16018990 20140529 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:10003 sensorineural hearing loss ISO RGD:10235 D RGD:8655560|PMID:20598895 20140515 RGD mRNA,protein:increased expression:inferior colliculus: 2202 Bdnf brain-derived neurotrophic factor gene DOID:10126 keratoconus ISO RGD:731027 D RGD:8655632|PMID:23489213 20140520 RGD mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: 2202 Bdnf brain-derived neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 2202 Bdnf brain-derived neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:731027 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease IMP D RGD:4891131|PMID:20646587 20110106 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:10058980|PMID:12654514 20150811 RGD protein:decreased expression:parietal cortex 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:10059345|PMID:23215636 20150813 RGD DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17344400 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:1331525|PMID:15118671 19990101 GAD 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:10059343|PMID:16627933 20150813 RGD DNA:polymorphism: :p.V66M (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:10059346|PMID:16565926 20150813 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease onset ISO RGD:731027 D RGD:5508228|PMID:18780967 20111011 RGD DNA:SNP:CDS:rs1048218 (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10059402|PMID:24877042 20150814 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1070 primary open angle glaucoma ISO RGD:731027 D RGD:8655612|PMID:21076359 20140520 RGD protein:decreased expression:serum: 2202 Bdnf brain-derived neurotrophic factor gene DOID:10914 amnestic disorder treatment ISO RGD:10235 D RGD:10059361|PMID:25061594 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:10933 obsessive-compulsive disorder ISO RGD:731027 D RGD:734644|PMID:12836135 19990101 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1094 attention deficit hyperactivity disorder treatment IEP D RGD:10059388|PMID:25061595 20150814 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:11446 sciatic neuropathy IEP D RGD:8657100|PMID:22309829 20140602 RGD protein:increased expression:dorsal root ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:11446 sciatic neuropathy treatment IDA D RGD:10059363|PMID:24388817 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:11981 morbid obesity ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 2202 Bdnf brain-derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:731027 D RGD:8655552|PMID:19937367 20140515 RGD mRNA:increased expression:peripheral nerve: 2202 Bdnf brain-derived neurotrophic factor gene DOID:12849 autistic disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17349978|PMID:20662941 2202 Bdnf brain-derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:10235 D RGD:10059353|PMID:19499586 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:731027 D RGD:10058981|PMID:18093249 20150811 RGD mRNA, protein:decreased expression:cerebral cortex 2202 Bdnf brain-derived neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:731027 D RGD:10415531|PMID:17885687 20151202 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:12894 Sjogren's syndrome severity ISO RGD:731027 D RGD:8657019|PMID:18830907 20140528 RGD protein:increased expression:serum: 2202 Bdnf brain-derived neurotrophic factor gene DOID:13399 color blindness susceptibility ISO RGD:731027 D RGD:8655850|PMID:21640793 20140521 RGD associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:731027 D RGD:4891110|PMID:16315781 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:13544 low tension glaucoma ISO RGD:731027 D RGD:8655604|PMID:19861219 20140519 RGD protein:increased expression:tear: 2202 Bdnf brain-derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2202 Bdnf brain-derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:1331525|PMID:15118671 19990101 GAD 2202 Bdnf brain-derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:8657025|PMID:10208589 20140528 RGD protein:decreased expression:substantia nigra pars compacta: 2202 Bdnf brain-derived neurotrophic factor gene DOID:14330 Parkinson's disease no_association ISO RGD:731027 D RGD:10059346|PMID:16565926 20150813 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:1459 hypothyroidism IEP D RGD:4891132|PMID:20600205 20110106 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1470 major depressive disorder ISO RGD:731027 D RGD:8655887|PMID:21803060 20140522 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1555 urticaria ISO RGD:731027 D RGD:8657027|PMID:21676041 20140528 RGD protein:increased expression:serum,skin: 2202 Bdnf brain-derived neurotrophic factor gene DOID:1561 cognitive disorder ISO RGD:731027 D RGD:8655893|PMID:23517654 20140522 RGD associated with WAGR Syndrome;DNA:haploinsufficiency: : 2202 Bdnf brain-derived neurotrophic factor gene DOID:1574 alcohol use disorder IEP D RGD:35673317|PMID:32135570 20200713 RGD protein:decreased expression:plasma 2202 Bdnf brain-derived neurotrophic factor gene DOID:1596 depressive disorder IEP D RGD:4891127|PMID:20920483 20110106 RGD protein:decreased expression:brain 2202 Bdnf brain-derived neurotrophic factor gene DOID:1596 depressive disorder IEP D RGD:5684923|PMID:22097208 20120104 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16330021|PMID:21945287 2202 Bdnf brain-derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:4891139|PMID:20227453 20110106 RGD mRNA, protein:decreased expression:lymphocyte, platelet 2202 Bdnf brain-derived neurotrophic factor gene DOID:1596 depressive disorder treatment IEP D RGD:10059357|PMID:24128869 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1679 cystitis IEP D RGD:8657090|PMID:9631447 20140530 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1679 cystitis IMP D RGD:5684910|PMID:20079809 20120104 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1686 glaucoma IEP D RGD:8655608|PMID:10711692 20140520 RGD protein:decreased expression:eye: 2202 Bdnf brain-derived neurotrophic factor gene DOID:1686 glaucoma treatment IDA D RGD:8655886|PMID:21498611 20140522 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:731027 D RGD:8655601|PMID:19422885 20140519 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1824 status epilepticus IMP D RGD:4891125|PMID:19366663 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1824 status epilepticus IMP D RGD:5684912|PMID:19686240 20120104 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 2202 Bdnf brain-derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15282290 2202 Bdnf brain-derived neurotrophic factor gene DOID:2030 anxiety disorder treatment IEP D RGD:151356735|PMID:25283985 20220210 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:2055 post-traumatic stress disorder susceptibility ISO RGD:731027 D RGD:10059367|PMID:23319005 20150813 RGD DNA:missense mutation:cds:196G>A (p.V66M) (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:2234 focal epilepsy ISO RGD:731027 D RGD:1331525|PMID:15118671 19990101 GAD 2202 Bdnf brain-derived neurotrophic factor gene DOID:2316 brain ischemia ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19922383 2202 Bdnf brain-derived neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:731027 D RGD:5684915|PMID:20656764 20120104 RGD protein:decreased expression:serum 2202 Bdnf brain-derived neurotrophic factor gene DOID:2468 psychotic disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2202 Bdnf brain-derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:4891067|PMID:17584309 20110104 RGD DNA:polymorphisms: :p.V66M, -270C>T (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:4891122|PMID:12752594 20110105 RGD protein:decreased expression:blood, eosinophil 2202 Bdnf brain-derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:4891123|PMID:11737043 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:4891063|PMID:20874832 20110104 RGD protein:increased expression:plasma 2202 Bdnf brain-derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:4891117|PMID:19895626 20110105 RGD DNA:polymorphisms: :p.V66M (rs6265) (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:2841 asthma susceptibility ISO RGD:731027 D RGD:8655967|PMID:21723144 20140527 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:2952 inner ear disease ISO RGD:8807547 D RGD:9068941 20200609 RGD PMID:10536212|REF_RGD_ID:11556223 2202 Bdnf brain-derived neurotrophic factor gene DOID:3082 interstitial lung disease ISO RGD:731027 D RGD:8657022|PMID:24691584 20140528 RGD associated with Sjogren's Syndrome;protein:decreased expression:serum: 2202 Bdnf brain-derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:8657065|PMID:17845420 20140529 RGD mRNA:decreased expression:mast cell 2202 Bdnf brain-derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:8657069|PMID:17073871 20140529 RGD protein:increased expression:serum: 2202 Bdnf brain-derived neurotrophic factor gene DOID:3310 atopic dermatitis no_association ISO RGD:731027 D RGD:8657067|PMID:19038326 20140529 RGD DNA:polymorphism:cds:p.V66M(human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:731027 D RGD:8657028|PMID:19522715 20140528 RGD DNA:polymorphism::C270T(human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:3312 bipolar disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:19018715 2202 Bdnf brain-derived neurotrophic factor gene DOID:3312 bipolar disorder ISO RGD:731027 D RGD:1331525|PMID:15118671 19990101 GAD 2202 Bdnf brain-derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:4891138|PMID:20417695 20110106 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:3770 pulmonary fibrosis ISO RGD:731027 D RGD:4891121|PMID:12917229 20110105 RGD protein:increased expression:sputum 2202 Bdnf brain-derived neurotrophic factor gene DOID:418 systemic scleroderma ISO RGD:731027 D RGD:5144060|PMID:21085492 20140529 RGD protein:decreased expression:serum: 2202 Bdnf brain-derived neurotrophic factor gene DOID:4483 rhinitis IEP D RGD:4891116|PMID:20464992 20110105 RGD mRNA:increased expression:nasal cavity epithelium 2202 Bdnf brain-derived neurotrophic factor gene DOID:4483 rhinitis susceptibility ISO RGD:731027 D RGD:8655967|PMID:21723144 20140527 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:5419 schizophrenia ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12951204|PMID:14708030|PMID:17442489|PMID:18408624 2202 Bdnf brain-derived neurotrophic factor gene DOID:5419 schizophrenia ISO RGD:731027 D RGD:1331525|PMID:15118671 19990101 GAD 2202 Bdnf brain-derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:731027 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24048383|PMID:27699937 2202 Bdnf brain-derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20736000 2202 Bdnf brain-derived neurotrophic factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 2202 Bdnf brain-derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:10235 D RGD:8655627|PMID:17525224 20140520 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:10235 D RGD:8655860|PMID:12764104 20140521 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:8466 retinal degeneration treatment IDA D RGD:8655652|PMID:12454046 20140520 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:10235 D RGD:8655588|PMID:16123443 20140516 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:863 nervous system disease ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22240983 2202 Bdnf brain-derived neurotrophic factor gene DOID:8725 vascular dementia treatment IEP D RGD:10059369|PMID:24622829 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:8805 intermediate coronary syndrome ISO RGD:731027 D RGD:4891111|PMID:16186425 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:8947 diabetic retinopathy IEP D RGD:8655657|PMID:15331553 20140520 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4891066|PMID:19203225 20110104 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:731027 D RGD:4891112|PMID:16022868 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:10059354|PMID:24551172 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000111 Radiation Injuries treatment IEP D RGD:10059359|PMID:24333433 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000307 Presbycusis IEP D RGD:8655551|PMID:17168119 20140515 RGD mRNA:decreased expression:cochlea 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000641 Pain IEP D RGD:4891137|PMID:20452292 20110106 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000998 Brain Injuries IEP D RGD:4891136|PMID:20544832 20110106 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15500971|PMID:21269288 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:8657088|PMID:11425916 20140530 RGD mRNA,protein:increased expression:fourth lumbar dorsal root ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10235 D RGD:8657102|PMID:23466809 20140602 RGD mRNA,protein:increased expression:spinal dorsal horn: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17186223 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001472 Nasal Polyps ISO RGD:731027 D RGD:4891064|PMID:19958603 20110104 RGD associated with Sinusitis;protein:decreased expression:respiratory system mucosa 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:731027 D RGD:8655861|PMID:10549664 20140521 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001733 Tinnitus IEP D RGD:8655535|PMID:18524887 20140514 RGD mRNA:increased expression:cochlea: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9001733 Tinnitus severity ISO RGD:731027 D RGD:8655556|PMID:22281446 20140515 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:731027 D RGD:10059351|PMID:22596272 20150813 RGD DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:731027 D RGD:10059351|PMID:22596272 20150813 RGD DNA:SNP: :rs2049045 (human) 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:10059358|PMID:24361987 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002165 Diabetic Nephropathies IMP D RGD:4891134|PMID:20557422 20120104 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia IDA D RGD:8657114|PMID:10779676 20140602 RGD associated with Sciatic Neuropathy; 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia IEP D RGD:8657122|PMID:21958434 20140603 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia IMP D RGD:8657088|PMID:11425916 20140530 RGD associated with Peripheral Nerve Injuries; 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia IMP D RGD:8657093|PMID:21499209 20140530 RGD associated with Pancreatitis, Chronic; 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:8657091|PMID:12470870 20140530 RGD associated with Sciatic Neuropathy; 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:8657101|PMID:12435470 20140602 RGD associated with Peripheral Nerve Injuries; 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:731027 D RGD:8657099|PMID:21864655 20140602 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002669 Hypoxia ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16553631 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731027 D RGD:4891129|PMID:20818776 20110106 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002704 Leukoencephalopathies treatment IEP D RGD:10045369|PMID:24322053 20150609 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:10059360|PMID:23212569 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:8655559|PMID:17275194 20140515 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:8636263|PMID:19925854 20140513 RGD protein:increased expression:cochlea: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:8655575|PMID:22723694 20140516 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002955 Nerve Degeneration IEP D RGD:10059347|PMID:18313855 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8921280|PMID:8978711|PMID:15372491|PMID:19457078|PMID:19686240 2202 Bdnf brain-derived neurotrophic factor gene DOID:9003740 Nerve Injuries IEP D RGD:8655574|PMID:19848245 20140516 RGD mRNA:increased expression:geniculate ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9003740 Nerve Injuries IEP D RGD:8657332|PMID:23190308 20140604 RGD protein:increased expression:mylonhyoid nerve: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9004009 Reperfusion Injury IEP D RGD:4891135|PMID:20554625 20110106 RGD mRNA:increased expression:retina 2202 Bdnf brain-derived neurotrophic factor gene DOID:9004538 Hearing Loss IEP D RGD:8655535|PMID:18524887 20140514 RGD mRNA:increased expression:cochlea: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9004659 Respiration Disorders ISO RGD:10235 D RGD:8655536|PMID:8757249 20140514 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9004866 Ataxia ISO RGD:10235 D RGD:8632994|PMID:9712667 20140513 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9004964 Referred Pain IMP D RGD:8655857|PMID:23313710 20140521 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005236 Drug Eruptions ISO RGD:10235 D RGD:8657071|PMID:19904815 20140529 RGD mRNA:increased expression:lymph node, ear: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005372 Inflammation IEP D RGD:4891140|PMID:20223282 20110106 RGD protein:increased expression: trigeminal V ganglion 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21087489 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14973246|PMID:17618281|PMID:17651427|PMID:18311559|PMID:19321768|PMID:20711185|PMID:20810894 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders severity IMP D RGD:38501054|PMID:23583595 20210416 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders susceptibility IMP D RGD:38501054|PMID:23583595 20200814 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10059399|PMID:24857910 20150814 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9005832 Amyloid Plaques ISO RGD:10235 D RGD:10059349|PMID:15014117 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:8657329|PMID:14615047 20140604 RGD protein:increased expression:dorsal root ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9006646 Metabolic Syndrome ISO RGD:731027 D RGD:1580935|PMID:11935372 20150324 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9007402 Gliosis ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21087489 2202 Bdnf brain-derived neurotrophic factor gene DOID:9007480 Hyperoxia IEP D RGD:4891113|PMID:15821016 20110105 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9007633 Body Weight ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 2202 Bdnf brain-derived neurotrophic factor gene DOID:9007980 Sleep Deprivation treatment IEP D RGD:10059355|PMID:25450575 20150813 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008023 Memory Disorders ISO RGD:731027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Memory impairment, susceptibility to PMID:12140781|PMID:12161822|PMID:12553913|PMID:12836135|PMID:12888803|PMID:15115760|PMID:15337662|PMID:16152572|PMID:16172806|PMID:16222333|PMID:16344533|PMID:16389585|PMID:20075215|PMID:24033266|PMID:25741868|PMID:28492532 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries IEP D RGD:8655586|PMID:11050383 20140516 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:10235 D RGD:8655637|PMID:9520478 20140520 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:731027 D RGD:8655584|PMID:15140649 20140516 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008103 Seasonal Allergic Rhinitis severity ISO RGD:731027 D RGD:5144117|PMID:18266897 20110729 RGD protein:increased expression:blood, nasal cavity epithelium 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008520 Chronic Pain IEP D RGD:10059366|PMID:24518228 20150813 RGD mRNA:decreased expression:anterior cingulate cortex 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008520 Chronic Pain IEP D RGD:5684922|PMID:11360665 20120104 RGD protein:increased expression:frontal cortex, neuron 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:731027 D RGD:4891069|PMID:17317133 20110104 RGD protein:decreased expression:platelet, serum 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008681 Deafness ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18607918|PMID:19365690 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:10235 D RGD:8655576|PMID:23150788 20140516 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:731027 D RGD:8639313|PMID:21452221 20140513 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:8655978|PMID:21997550 20140527 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:8657331|PMID:19932037 20140604 RGD associated with Colitis; protein:increased expression:dorsal root ganglion: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731027 D RGD:10059350|PMID:17151862 20150813 RGD protein:decreased expression:plasma 2202 Bdnf brain-derived neurotrophic factor gene DOID:9427 hypertensive encephalopathy treatment IEP D RGD:10059400|PMID:24730417 20150814 RGD 2202 Bdnf brain-derived neurotrophic factor gene DOID:9470 bacterial meningitis IEP D RGD:8655554|PMID:22683802 20140515 RGD mRNA:decreased expression:hippocampus,cerebral cortex: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:10235 D RGD:5684920|PMID:16141791 20120104 RGD mRNA, protein:increased expression:hippocampus 2202 Bdnf brain-derived neurotrophic factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731027 D RGD:8655629|PMID:18405896 20140520 RGD protein:decreased expression:photoreceptor outer segment layer: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9743 diabetic neuropathy IMP D RGD:4891134|PMID:20557422 20110106 RGD associated with Diabetes Mellitus, Experimental 2202 Bdnf brain-derived neurotrophic factor gene DOID:9778 irritable bowel syndrome ISO RGD:731027 D RGD:8655978|PMID:21997550 20140527 RGD protein:increased expression:colonic mucosa,intestinal intestine: 2202 Bdnf brain-derived neurotrophic factor gene DOID:987 alopecia ISO RGD:731027 D RGD:8657081|PMID:21729031 20140529 RGD protein:increased expression:dermal papilla: 2202 Bdnf brain-derived neurotrophic factor gene DOID:9970 obesity ISO RGD:731027 D RGD:10059350|PMID:17151862 20150813 RGD protein:decreased expression:plasma 2202 Bdnf brain-derived neurotrophic factor gene DOID:9970 obesity ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:11840487|PMID:25741868|PMID:28492532 2202 Bdnf brain-derived neurotrophic factor gene DOID:9976 heroin dependence ISO RGD:731027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 2203 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:0080600 COVID-19 ISO RGD:732892 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2203 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:1826 epilepsy ISO RGD:732892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 2203 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732892 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2204 Cfb complement factor B gene DOID:0050127 sinusitis ISO RGD:1350557 D RGD:7411729|PMID:14510109 20131119 RGD protein:decreased expression:serum 2204 Cfb complement factor B gene DOID:0050553 JMP syndrome ISO RGD:1350557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2204 Cfb complement factor B gene DOID:0060295 complement component 2 deficiency ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2204 Cfb complement factor B gene DOID:0080162 lupus nephritis ISO RGD:10236 D RGD:7242736|PMID:10623824 20130417 RGD 2204 Cfb complement factor B gene DOID:0080162 lupus nephritis ISO RGD:10236 D RGD:7242763|PMID:3183062 20130419 RGD 2204 Cfb complement factor B gene DOID:0080162 lupus nephritis ISO RGD:1350557 D RGD:7242755|PMID:21893562 20130419 RGD 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:11040768|PMID:20513133 20160322 RGD DNA:nonsense mutations: :multiple 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17182750 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:7242707|PMID:17182750 20130416 RGD DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:28492532|PMID:6308626|PMID:7452889|PMID:8181962 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:15661753|PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 2204 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 2204 Cfb complement factor B gene DOID:0080322 polycystic kidney disease treatment IEP D RGD:8661641|PMID:24494798 20160323 RGD 2204 Cfb complement factor B gene DOID:0080750 erythema nodosum ISO RGD:1350557 D RGD:7421527|PMID:2783924 20131120 RGD associated with Leprosy 2204 Cfb complement factor B gene DOID:0110019 age related macular degeneration 7 no_association ISO RGD:1350557 D RGD:7401252|PMID:19899988 20131118 RGD DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) 2204 Cfb complement factor B gene DOID:0110026 age related macular degeneration 14 ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2204 Cfb complement factor B gene DOID:0110026 age related macular degeneration 14 susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 2204 Cfb complement factor B gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2204 Cfb complement factor B gene DOID:10754 otitis media ISO RGD:10236 D RGD:7411716|PMID:20065024 20131119 RGD associated with Pneumococcal Infections 2204 Cfb complement factor B gene DOID:10887 lepromatous leprosy severity ISO RGD:1350557 D RGD:7411735|PMID:6342123 20131119 RGD 2204 Cfb complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:11041159|PMID:10440069 20160323 RGD 2204 Cfb complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:11041160|PMID:12793071 20160323 RGD protein:decreased activity 2204 Cfb complement factor B gene DOID:10976 membranous glomerulonephritis susceptibility ISO RGD:1350557 D RGD:7242764|PMID:3272818 20130419 RGD 2204 Cfb complement factor B gene DOID:11400 pyelonephritis ISO RGD:1350557 D RGD:7242756|PMID:20218820 20130419 RGD associated with pregnancy complications;protein:increased activity:plasma 2204 Cfb complement factor B gene DOID:12134 factor VIII deficiency ISO RGD:1350557 D RGD:11041156|PMID:6912882 20160322 RGD protein:increased expression:blood 2204 Cfb complement factor B gene DOID:12241 beta thalassemia ISO RGD:1350557 D RGD:11041572|PMID:6914868 20160324 RGD protein:decreased expression:serum 2204 Cfb complement factor B gene DOID:1227 neutropenia ISO RGD:1350557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 2204 Cfb complement factor B gene DOID:12662 paracoccidioidomycosis ISO RGD:1350557 D RGD:7421526|PMID:7921333 20131120 RGD 2204 Cfb complement factor B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:10236 D RGD:7242704|PMID:17522263 20130416 RGD 2204 Cfb complement factor B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2204 Cfb complement factor B gene DOID:13241 Behcet's disease ISO RGD:1350557 D RGD:7411737|PMID:6900632 20131120 RGD 2204 Cfb complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:7411695|PMID:22714898 20131118 RGD DNA:SNP: :rs1048709 (human) 2204 Cfb complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:7411736|PMID:6610667 20131119 RGD 2204 Cfb complement factor B gene DOID:1407 anterior uveitis no_association ISO RGD:1350557 D RGD:7411695|PMID:22714898 20131118 RGD DNA:SNP: :rs537160, rs4151657, rs2072633 (human) 2204 Cfb complement factor B gene DOID:14095 boutonneuse fever ISO RGD:1350557|RGD:735504 D RGD:11041575|PMID:3361150 20160324 RGD protein:increased expression:serum 2204 Cfb complement factor B gene DOID:1612 breast cancer treatment ISO RGD:1350557 D RGD:7411730|PMID:15274022 20131119 RGD 2204 Cfb complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:10236 D RGD:734771|PMID:12091909 20130417 RGD 2204 Cfb complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1350557 D RGD:7242760|PMID:2329415 20130419 RGD 2204 Cfb complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:7242737|PMID:8567024 20130417 RGD mRNA:increased expression:kidney 2204 Cfb complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:7242754|PMID:3118258 20130419 RGD 2204 Cfb complement factor B gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1350557 D RGD:7242759|PMID:17385664 20130419 RGD protein:increased expression:serum 2204 Cfb complement factor B gene DOID:418 systemic scleroderma ISO RGD:1350557 D RGD:7421518|PMID:2803327 20131120 RGD protein:increased expression:plasma 2204 Cfb complement factor B gene DOID:437 myasthenia gravis ISO RGD:1350557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6605118 2204 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16518403 2204 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:7411691|PMID:23112567 20131118 RGD DNA:missense mutation:cds:p.R32Q (rs641153) (human) 2204 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:7411713|PMID:18806293 20131119 RGD DNA:missense mutation:cds:p.R32Q (rs641153) (human) 2204 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:7411714|PMID:19696172 20131119 RGD DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human) 2204 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:7411720|PMID:23233260 20131119 RGD DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human) 2204 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:8181962|PMID:9616367 2204 Cfb complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:7411713|PMID:18806293 20131119 RGD DNA:SNPs: :multiple 2204 Cfb complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:7411731|PMID:22273503 20131119 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) 2204 Cfb complement factor B gene DOID:4448 macular degeneration susceptibility ISO RGD:1350557 D RGD:7411694|PMID:22232432 20131118 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) 2204 Cfb complement factor B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10236 D RGD:7242700|PMID:22492944 20130416 RGD 2204 Cfb complement factor B gene DOID:557 kidney disease ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:23847193|PMID:24652797|PMID:25741868|PMID:28492532 2204 Cfb complement factor B gene DOID:6195 conjunctivitis ISO RGD:1350557 D RGD:7421524|PMID:3875643 20131120 RGD protein:increased expression:tear 2204 Cfb complement factor B gene DOID:630 genetic disease ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2204 Cfb complement factor B gene DOID:783 end stage renal disease ISO RGD:10236 D RGD:7242704|PMID:17522263 20130416 RGD 2204 Cfb complement factor B gene DOID:783 end stage renal disease severity ISO RGD:1350557 D RGD:7242753|PMID:1837062 20130419 RGD 2204 Cfb complement factor B gene DOID:8466 retinal degeneration treatment IEP D RGD:7364947|PMID:21467172 20160323 RGD 2204 Cfb complement factor B gene DOID:8506 bullous pemphigoid ISO RGD:10236 D RGD:7421522|PMID:17024247 20131120 RGD 2204 Cfb complement factor B gene DOID:8577 ulcerative colitis ISO RGD:1350557 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2204 Cfb complement factor B gene DOID:8893 psoriasis ISO RGD:1350557 D RGD:7411727|PMID:6559061 20131119 RGD DNA:polymorphisms 2204 Cfb complement factor B gene DOID:8893 psoriasis no_association ISO RGD:1350557 D RGD:7421520|PMID:2609873 20131120 RGD DNA:polymorphisms 2204 Cfb complement factor B gene DOID:8947 diabetic retinopathy ISO RGD:1350557 D RGD:7365019|PMID:23864767 20131119 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human) 2204 Cfb complement factor B gene DOID:8947 diabetic retinopathy no_association ISO RGD:1350557 D RGD:7365019|PMID:23864767 20131119 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human) 2204 Cfb complement factor B gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1350557 D RGD:8661641|PMID:24494798 20160323 RGD protein:increased expression:urine 2204 Cfb complement factor B gene DOID:9000998 Brain Injuries ISO RGD:1350557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17474994 2204 Cfb complement factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:10236 D RGD:7411733|PMID:16849499 20131119 RGD 2204 Cfb complement factor B gene DOID:9004484 Sepsis treatment ISO RGD:10236 D RGD:11040886|PMID:24154627 20160316 RGD 2204 Cfb complement factor B gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor B deficiency | ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:23847193|PMID:24033266|PMID:24152280|PMID:24652797|PMID:25741868|PMID:28492532 2204 Cfb complement factor B gene DOID:9005169 Complement Factor B Deficiency susceptibility ISO RGD:1350557 D RGD:7240710 20230517 OMIM 2204 Cfb complement factor B gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1350557 D RGD:11041158|PMID:9741227 20160323 RGD 2204 Cfb complement factor B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10236 D RGD:7242709|PMID:16467447 20130416 RGD 2204 Cfb complement factor B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10236 D RGD:7242734|PMID:12538716 20130417 RGD 2204 Cfb complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis IMP D RGD:7411732|PMID:21216963 20131119 RGD 2204 Cfb complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10236 D RGD:7411717|PMID:20806290 20131119 RGD 2204 Cfb complement factor B gene DOID:9007189 Multifocal Choroiditis no_association ISO RGD:1350557 D RGD:7411728|PMID:19001225 20131119 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) 2204 Cfb complement factor B gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350557 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2204 Cfb complement factor B gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment IMP D RGD:11041161|PMID:25355917 20160323 RGD 2204 Cfb complement factor B gene DOID:9008366 Meningococcal Infections severity ISO RGD:1350557 D RGD:11041157|PMID:3491693 20160323 RGD 2204 Cfb complement factor B gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1350557 D RGD:7411694|PMID:22232432 20131118 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) 2204 Cfb complement factor B gene DOID:9074 systemic lupus erythematosus ISO RGD:1350557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 2204 Cfb complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:2311335|PMID:19000152 20090708 RGD DNA:polymorphism 2204 Cfb complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:2311338|PMID:3907907 20090708 RGD protein:increased expression:serum 2204 Cfb complement factor B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350557 D RGD:11041155|PMID:6958349 20160322 RGD DNA:missense mutation:p.R32Q b(human) 2205 Bfsp1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:7240710 20130221 OMIM 2205 Bfsp1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:12454043|PMID:14638724|PMID:17225135|PMID:24281366|PMID:24379646|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 2205 Bfsp1 beaded filament structural protein 1 gene DOID:12270 coloboma ISO RGD:737302 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24281366|PMID:28492532 2205 Bfsp1 beaded filament structural protein 1 gene DOID:630 genetic disease ISO RGD:737302 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2205 Bfsp1 beaded filament structural protein 1 gene DOID:83 cataract ISO RGD:737302 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0050328 congenital hypothyroidism IDA D RGD:6483557|PMID:7920889 20120525 RGD mRNA,protein:decreased expression:skull, serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1621634 D RGD:7207229|PMID:22573557 20130125 RGD mRNA:increased expression:long bone 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0080322 polycystic kidney disease IEP D RGD:7207414|PMID:12376805 20130201 RGD protein:increased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:619567 D RGD:7207408|PMID:21908029 20130201 RGD protein:increased expression:serum: 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:619567 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0090109 autosomal dominant hypocalcemia IEP D RGD:6483581|PMID:2106357 20120525 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0111253 neurofibromatosis 1 ISO RGD:619567 D RGD:6483542|PMID:22120694 20120524 RGD protein:decreased expression:blood 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0111535 progressive osseous heteroplasia ISO RGD:619567 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0111940 immunodeficiency 42 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:619567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:10283 prostate cancer ISO RGD:619567 D RGD:6483580|PMID:12565780 20120525 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:11249 vitamin K deficiency bleeding ISO RGD:619567 D RGD:6483568|PMID:16869104 20120525 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis IDA D RGD:6483552|PMID:21550389 20120524 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:619567 D RGD:6483579|PMID:15108065 20120525 RGD associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis susceptibility ISO RGD:619567 D RGD:10045665|PMID:23137636 20150615 RGD DNA:SNP, haplotype:promoter:g.-298C>T (human) 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:1184 nephrotic syndrome ISO RGD:619567 D RGD:7205481|PMID:22989431 20130125 RGD protein:decreased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:14330 Parkinson's disease ISO RGD:619567 D RGD:7207224|PMID:16114020 20130125 RGD protein:decreased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:1485 cystic fibrosis ISO RGD:619567 D RGD:6483578|PMID:16622660 20140130 RGD protein:decreased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:1540 parathyroid carcinoma ISO RGD:619567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:6483566|PMID:20197689 20120525 RGD associated with hypertension;protein:undercarboxylated:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:2841 asthma ISO RGD:619567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8429434 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:4079 heart valve disease ISO RGD:619567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:5812 MHC class II deficiency ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:585 nephrolithiasis ISO RGD:619567 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:630 genetic disease ISO RGD:619567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:6483593|PMID:22447331 20120529 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:6483600|PMID:3488088 20120529 RGD protein:increased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease IEP D RGD:7207409|PMID:17365904 20130201 RGD protein:increased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:619567 D RGD:7207235|PMID:20845051 20130125 RGD protein:increased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:619567 D RGD:6483599|PMID:20157712 20120529 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:6483321|PMID:22535626 20120516 RGD mRNA:decreased expression:bone 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:6483546|PMID:21482072 20120524 RGD protein:undercarboxylated:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:619567 D RGD:7207424|PMID:9347246 20130201 RGD associated with Diabetes Mellitus, Type2; protein:increased expression:serum: 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14666681 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002315 Kidney Calculi ISO RGD:1621634 D RGD:7207412|PMID:12674322 20130201 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis IDA D RGD:6483595|PMID:21387139 20120529 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:619567 D RGD:6483563|PMID:22294259 20120525 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures ISO RGD:619567 D RGD:7207248|PMID:19641839 20130125 RGD associated with Diabetes Mellitus, Type 2; 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures disease_progression ISO RGD:619567 D RGD:7207225|PMID:12697366 20130125 RGD associated with osteoporosis 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002457 Experimental Arthritis ISO RGD:1621634 D RGD:6483549|PMID:21406003 20120524 RGD protein:decreased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9002589 Bone Fractures ISO RGD:619567 D RGD:7207231|PMID:21784896 20130125 RGD associated with kidney failure, chronic; 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316184|PMID:19494718 20100128 RGD protein:reduced expression:serum (rat) 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9006359 Vitamin D Deficiency IDA D RGD:6483561|PMID:3105848 20120525 RGD 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9006646 Metabolic Syndrome ISO RGD:619567 D RGD:6483594|PMID:21760737 20120529 RGD protein:decreased expression:serum 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619567 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:619567 D RGD:7207410|PMID:15747054 20130201 RGD protein:decreased expression:serum: 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9409 diabetes insipidus ISO RGD:619567 D RGD:7207422|PMID:9661594 20130201 RGD protein:decreased expression:serum: 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:7207232|PMID:21041817 20130125 RGD protein:decreased expression:plasma 2206 Bglap bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:7207419|PMID:9850345 20130201 RGD protein:increased expression:serum: 2207 Bgn biglycan gene DOID:0050454 periventricular nodular heterotopia ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2207 Bgn biglycan gene DOID:0050476 Barth syndrome ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2207 Bgn biglycan gene DOID:0050800 creatine transporter deficiency ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2207 Bgn biglycan gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2207 Bgn biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:7240710 20200619 OMIM 2207 Bgn biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:25741868|PMID:27632686|PMID:28492532 2207 Bgn biglycan gene DOID:0112003 immunodeficiency 33 ISO RGD:737524 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2207 Bgn biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:7240710 20190315 OMIM 2207 Bgn biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:25741868|PMID:27236923|PMID:28492532|PMID:8064814 2207 Bgn biglycan gene DOID:10588 adrenoleukodystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2207 Bgn biglycan gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2207 Bgn biglycan gene DOID:12849 autistic disorder ISO RGD:737524 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2207 Bgn biglycan gene DOID:13628 favism ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 2207 Bgn biglycan gene DOID:14004 thoracic aortic aneurysm ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:27632686 2207 Bgn biglycan gene DOID:2729 dyskeratosis congenita ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 2207 Bgn biglycan gene DOID:607 paraplegia ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2207 Bgn biglycan gene DOID:630 genetic disease ISO RGD:737524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2207 Bgn biglycan gene DOID:7148 rheumatoid arthritis ISO RGD:737524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 2207 Bgn biglycan gene DOID:9000918 Disease Progression ISO RGD:737524 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 2207 Bgn biglycan gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2207 Bgn biglycan gene DOID:9002720 Splenomegaly ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2207 Bgn biglycan gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737524 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 2207 Bgn biglycan gene DOID:9008939 Breast Neoplasms ISO RGD:737524 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 2209 Wdr46 WD repeat domain 46 gene DOID:0050553 JMP syndrome ISO RGD:1353590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2209 Wdr46 WD repeat domain 46 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353590 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 2209 Wdr46 WD repeat domain 46 gene DOID:630 genetic disease ISO RGD:1353590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2209 Wdr46 WD repeat domain 46 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2209 Wdr46 WD repeat domain 46 gene DOID:9000918 Disease Progression ISO RGD:1353590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0050591 tooth agenesis ISO RGD:733110 D RGD:13446405|PMID:23079991 20171107 RGD DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0050830 peripheral artery disease ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27082954 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0080001 bone disease ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22023753 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:7240710 20130221 OMIM 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:19327734|PMID:21357617|PMID:25741868|PMID:28492532 2211 Bmp2 bone morphogenetic protein 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733110 D RGD:7240710 20171018 OMIM 2211 Bmp2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733110 D RGD:2299981|PMID:15042598 20080822 RGD 2211 Bmp2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:733110 D RGD:2289030|PMID:17656261 20080116 RGD DNA:amplification:prostate gland 2211 Bmp2 bone morphogenetic protein 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:733110 D RGD:1643592|PMID:16519147 20080116 RGD protein:increased expression:prostate gland 2211 Bmp2 bone morphogenetic protein 2 gene DOID:11476 osteoporosis ISO RGD:733110 D RGD:1625350|PMID:17002564 20070604 RGD 2211 Bmp2 bone morphogenetic protein 2 gene DOID:11830 myopia ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 2211 Bmp2 bone morphogenetic protein 2 gene DOID:12185 otosclerosis susceptibility ISO RGD:733110 D RGD:8698669|PMID:18021008 20140812 RGD DNA:SNP:3'UTR:rs3178250(human) 2211 Bmp2 bone morphogenetic protein 2 gene DOID:1324 lung cancer ISO RGD:733110 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465802|PMID:26253951 2211 Bmp2 bone morphogenetic protein 2 gene DOID:13832 patent ductus arteriosus ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: PDA1 2211 Bmp2 bone morphogenetic protein 2 gene DOID:182 calcinosis ISO RGD:733110 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30963258|PMID:31843813 2211 Bmp2 bone morphogenetic protein 2 gene DOID:2340 craniosynostosis ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 2211 Bmp2 bone morphogenetic protein 2 gene DOID:2352 hemochromatosis ISO RGD:733110 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2211 Bmp2 bone morphogenetic protein 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 2211 Bmp2 bone morphogenetic protein 2 gene DOID:4676 uremia ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 2211 Bmp2 bone morphogenetic protein 2 gene DOID:630 genetic disease ISO RGD:733110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2211 Bmp2 bone morphogenetic protein 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733110 D RGD:1625347|PMID:15334463 20070604 RGD 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:9068404|PMID:23770801 20140818 RGD 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9000082 Craniosynostosis 7 ISO RGD:733110 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Craniosynostosis 7 PMID:27606499 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16314833 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733110 D RGD:11554173 20181113 CTD CTD Direct Evidence: therapeutic PMID:29800642 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9001547 Tibial Fractures IEP D RGD:2289037|PMID:16651391 20080116 RGD protein:increased expression:tibia 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9002371 Cardiotoxicity ISO RGD:733110 D RGD:11554173 20181113 CTD CTD Direct Evidence: therapeutic PMID:29800642 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9002589 Bone Fractures ISO RGD:733110 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27394662 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733110 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9004675 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PMID:25741868|PMID:28492532|PMID:29198724 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9004971 Right Ventricle Hypoplasia ISO RGD:733110 D RGD:11554173 20181113 CTD CTD Direct Evidence: therapeutic PMID:29800642 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733110 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:7240710 20190315 OMIM 2211 Bmp2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:25741868|PMID:29198724|PMID:35227291 2212 Bmp3 bone morphogenetic protein 3 gene DOID:630 genetic disease ISO RGD:735356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2212 Bmp3 bone morphogenetic protein 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2212 Bmp3 bone morphogenetic protein 3 gene DOID:9001547 Tibial Fractures IEP D RGD:2289037|PMID:16651391 20080116 RGD protein:increased expression:tibia 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0050567 orofacial cleft ISO RGD:730832 D RGD:8554872 20170328 ClinVar ClinVar Annotator: match by term: Orofacial cleft 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis ISO RGD:730832 D RGD:13446405|PMID:23079991 20171107 RGD DNA:SNP:cds:c.455T>C(p.V152A)(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis ISO RGD:730832 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Tooth agenesis 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis susceptibility ISO RGD:730832 D RGD:13442494|PMID:26166641 20171106 RGD DNA:SNP: :rs17563(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0050651 atrioventricular septal defect ISS RGD:10244 D RGD:13592920 20180518 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0050834 CHARGE syndrome ISO RGD:10244 D RGD:9068442|PMID:22658483 20140819 RGD mRNA:altered localization:brain: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0060673 Peters anomaly ISO RGD:730832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:730832 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:25741868 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine susceptibility ISO RGD:730832 D RGD:9068398|PMID:21034624 20140815 RGD DNA:polymorphism:exon:6007C>T(rs17563)(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080015 physical disorder ISS RGD:10244 D RGD:13592920 20180518 MouseDO 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080205 CAKUT susceptibility ISO RGD:730832 D RGD:13442498|PMID:24131739 20171106 RGD DNA:SNPs: :rs2071047,rs17563(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080207 CAKUT2 ISO RGD:730832 D RGD:13446406|PMID:21927809 20171107 RGD DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080313 cleft palate-lateral synechia syndrome ISS RGD:10244 D RGD:13592920 20180809 MouseDO OMIM:119550 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:7240710 20130221 OMIM 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 11 PMID:12404109|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:30568244|PMID:31053785 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0080636 syndromic microphthalmia ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0090043 dystonia 5 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISS RGD:10244 D RGD:13592920 20180518 MouseDO OMIM:602482 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:28492532 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:730832 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:7240710 20130221 OMIM 2213 Bmp4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:12404109|PMID:17003840|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:20949628|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:31063268 2213 Bmp4 bone morphogenetic protein 4 gene DOID:10126 keratoconus ISO RGD:730832 D RGD:8699496|PMID:19956410 20140813 RGD mRNA:increased expression:keratocyte: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:730832 D RGD:1643592|PMID:16519147 20080111 RGD protein:increased expression:prostate 2213 Bmp4 bone morphogenetic protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:10244 D RGD:10414082|PMID:19463786 20151202 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:11476 osteoporosis ISO RGD:730832 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36453845 2213 Bmp4 bone morphogenetic protein 4 gene DOID:11963 esophagitis ISO RGD:730832 D RGD:8699511|PMID:17570215 20140813 RGD protein:increased expression:esophagus: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis ISO RGD:730832 D RGD:8699491|PMID:24492129 20140813 RGD DNA:polymorphism:cds:p.N150K(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis susceptibility ISO RGD:730832 D RGD:8698669|PMID:18021008 20140812 RGD DNA:missense mutation:cds:p.A152V,rs17563(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:1222 cartilage disease treatment ISO RGD:730832 D RGD:8699518|PMID:16447218 20140814 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:13374 fibrodysplasia ossificans progressiva ISS RGD:10244 D RGD:13592920 20180518 MouseDO OMIM:135100 2213 Bmp4 bone morphogenetic protein 4 gene DOID:13515 tuberous sclerosis ISO RGD:730832 D RGD:9068443|PMID:22752548 20140819 RGD protein:decreased expression, altered localization:cerebral cortex: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:13938 amenorrhea ISO RGD:730832 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 2213 Bmp4 bone morphogenetic protein 4 gene DOID:13976 peptic esophagitis IEP D RGD:8699511|PMID:17570215 20140813 RGD protein:increased expression:esophagus: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:1612 breast cancer ISO RGD:730832 D RGD:1643590|PMID:17004110 20080111 RGD mRNA:increased expression:breast 2213 Bmp4 bone morphogenetic protein 4 gene DOID:18 urinary system disease ISS RGD:10244 D RGD:13592920 20180518 MouseDO 2213 Bmp4 bone morphogenetic protein 4 gene DOID:182 calcinosis ISO RGD:730832 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:1826 epilepsy IEP D RGD:1643597|PMID:17286956 20080111 RGD mRNA:increased expression:dentate gyrus 2213 Bmp4 bone morphogenetic protein 4 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:730832 D RGD:13442496|PMID:25022354 20171106 RGD DNA:SNP: :rs762642(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:1909 melanoma susceptibility ISO RGD:730832 D RGD:9068447|PMID:19557432 20140819 RGD DNA:SNP:cds:6007C>T (rs17563)(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:2999 granulosa cell tumor ISO RGD:10244 D RGD:1643593|PMID:16488995 20080111 RGD mRNA:increased expression:ovary 2213 Bmp4 bone morphogenetic protein 4 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:9068407|PMID:18280291 20140818 RGD mRNA:decreased expression:heart: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:4448 macular degeneration ISO RGD:730832 D RGD:8699495|PMID:19158083 20140813 RGD protein:increased expression:bruch's membrane,pigmented layer of retina: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:730832 D RGD:1643589|PMID:17644140 20080111 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma IEP D RGD:629544|PMID:12552124 20080115 RGD protein:increased expression:pituitary gland 2213 Bmp4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16809920 2213 Bmp4 bone morphogenetic protein 4 gene DOID:540 strabismus ISO RGD:730832 D RGD:8699500|PMID:14710472 20140813 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:630 genetic disease ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19249007|PMID:21340693|PMID:23841782|PMID:25741868|PMID:28492532 2213 Bmp4 bone morphogenetic protein 4 gene DOID:668 myositis ossificans ISO RGD:730832 D RGD:734648|PMID:8678932 19990101 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16195406 2213 Bmp4 bone morphogenetic protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2213 Bmp4 bone morphogenetic protein 4 gene DOID:8398 osteoarthritis ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:9068404|PMID:23770801 20140818 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730832 D RGD:9068437|PMID:18803859 20140818 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9000598 Cranial Nerve Injuries IEP D RGD:2289006|PMID:16420416 20080114 RGD mRNA:increased expression:superior cervical ganglion 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9000955 Acute Otitis Media ISO RGD:10244 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10244 D RGD:8699493|PMID:21411747 20140813 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10244 D RGD:8699501|PMID:22392094 20140813 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations IEP D RGD:1599527|PMID:17161201 20170208 RGD mRNA:decreased expression:hindgut 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations IEP D RGD:9068408|PMID:22027561 20140818 RGD mRNA:decreased expression:rectum: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations severity ISO RGD:730832 D RGD:12798571|PMID:20146882 20170328 RGD mRNA, protein:decreased expression:rectum 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001547 Tibial Fractures IEP D RGD:2289037|PMID:16651391 20080116 RGD protein:increased expression:tibia 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1643229|PMID:16447265 20080114 RGD mRNA, protein:increased expression:liver 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9002209 Skull Fractures treatment ISO RGD:730832 D RGD:8699514|PMID:16332232 20140813 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9068402|PMID:22710965 20140815 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:730832 D RGD:9068457|PMID:16393252 20140819 RGD protein:increased expression:mouth mucosa: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:8699519|PMID:23236544 20140814 RGD mRNA,protein:decreased expression:brain: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:10244 D RGD:8847123|PMID:23747723 20140814 RGD protein:increased expression:heart: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730832 D RGD:2296026|PMID:12782598 20080623 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:730832 D RGD:9068434|PMID:19404941 20140818 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9004538 Hearing Loss ISO RGD:10244 D RGD:8698665|PMID:17275231 20140812 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9004999 APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS ISO RGD:730832 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9005988 Multicystic Dysplastic Kidney susceptibility ISO RGD:730832 D RGD:13442498|PMID:24131739 20171106 RGD DNA:SNP: :rs17563(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9006294 Congenital Limb Deformities IEP D RGD:9068432|PMID:17661743 20140818 RGD mRNA:decreased expression:mesoderm: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9007096 Stroke IMP D RGD:2289004|PMID:16730912 20080114 RGD protein:increased expression:brain, astrocyte 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9007402 Gliosis IEP D RGD:1643225|PMID:17696121 20080111 RGD protein:increased expression:spinal cord 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9007480 Hyperoxia IEP D RGD:8699519|PMID:23236544 20140814 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008 psoriatic arthritis ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008193 Cartilage Fractures treatment ISO RGD:730832 D RGD:9068397|PMID:19035511 20140815 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:730832 D RGD:9068443|PMID:22752548 20140819 RGD protein:decreased expression, altered localization:cerebral cortex: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008498 Tracheoesophageal Fistula IEP D RGD:2289003|PMID:16818050 20080114 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16120438 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures IEP D RGD:2289025|PMID:10701160 20080115 RGD mRNA:increased expression:upper leg 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment IDA D RGD:9068399|PMID:15352071 20140815 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:730832 D RGD:8699510|PMID:12810166 20140813 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus IEP D RGD:8699511|PMID:17570215 20140813 RGD protein:increased expression:esophagus: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:730832 D RGD:8699511|PMID:17570215 20140813 RGD protein:increased expression:esophagus: 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9282 ocular hypertension ISO RGD:10244 D RGD:8698668|PMID:11722794 20140812 RGD 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9296 cleft lip ISO RGD:730832 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:13442495|PMID:18771417 20171106 RGD DNA:polymorphism:cds:p.V152A(human) 2213 Bmp4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:13442497|PMID:23227324 20171106 RGD DNA:SNP: : rs17563 (p.V152A)(human) 2214 Bmp6 bone morphogenetic protein 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1353193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18688853 2214 Bmp6 bone morphogenetic protein 6 gene DOID:0050855 renal fibrosis severity ISO RGD:732562 D RGD:7242415|PMID:21356359 20130404 RGD associated with Ureteral Obstruction 2214 Bmp6 bone morphogenetic protein 6 gene DOID:0060180 colitis IEP D RGD:7242194|PMID:22361727 20130401 RGD 2214 Bmp6 bone morphogenetic protein 6 gene DOID:0090128 Carvajal syndrome ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 2214 Bmp6 bone morphogenetic protein 6 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 2214 Bmp6 bone morphogenetic protein 6 gene DOID:10283 prostate cancer ISO RGD:1353193 D RGD:2289017|PMID:18072288 20080115 RGD protein:increased expression:prostate 2214 Bmp6 bone morphogenetic protein 6 gene DOID:1612 breast cancer ISO RGD:1353193 D RGD:1643590|PMID:17004110 20080111 RGD mRNA:decreased expression:breast 2214 Bmp6 bone morphogenetic protein 6 gene DOID:2316 brain ischemia IEP D RGD:2289024|PMID:11245809 20080115 RGD 2214 Bmp6 bone morphogenetic protein 6 gene DOID:2352 hemochromatosis ISO RGD:1353193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19252486|PMID:19252488 2214 Bmp6 bone morphogenetic protein 6 gene DOID:2355 anemia IEP D RGD:7242407|PMID:21859731 20130403 RGD mRNA,protein:decreased expression:liver 2214 Bmp6 bone morphogenetic protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1353193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 2214 Bmp6 bone morphogenetic protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353193 D RGD:7242413|PMID:22364398 20130404 RGD protein:increased expression:esophagus 2214 Bmp6 bone morphogenetic protein 6 gene DOID:4450 renal cell carcinoma ISO RGD:1353193 D RGD:7242419|PMID:20016212 20130404 RGD mRNA,protein:increased expression:kidney 2214 Bmp6 bone morphogenetic protein 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353193 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 2214 Bmp6 bone morphogenetic protein 6 gene DOID:630 genetic disease ISO RGD:1353193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2214 Bmp6 bone morphogenetic protein 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1353193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2214 Bmp6 bone morphogenetic protein 6 gene DOID:8398 osteoarthritis ISO RGD:1353193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9000955 Acute Otitis Media ISO RGD:732562 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1353193 D RGD:2289018|PMID:16166304 20080115 RGD associated with Prostatic Neoplasms;protein:increased expression:bone 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9000998 Brain Injuries IEP D RGD:2289020|PMID:16388909 20080115 RGD protein:increased expression:brain, astrocyte, neuron 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9001547 Tibial Fractures IEP D RGD:7242189|PMID:23097200 20130401 RGD 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:2289024|PMID:11245809 20080115 RGD 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload ISO RGD:1353193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Iron overload, susceptibility to PMID:26582087|PMID:28335084|PMID:32464486 2214 Bmp6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload susceptibility ISO RGD:1353193 D RGD:7240710 20221214 OMIM 2218 Brca1 BRCA1, DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment IEP D RGD:127284854|PMID:25861310 20210610 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:69132 D RGD:126925969|PMID:11497291 20210521 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2218 Brca1 BRCA1, DNA repair associated gene DOID:0080213 punctate palmoplantar keratoderma type II ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 PMID:10090881|PMID:10447273|PMID:10464624|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11466700|PMID:11597388|PMID:11896095|PMID:12125210|PMID:12402332|PMID:12752644|PMID:12771565|PMID:14576434|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16541315|PMID:17307836|PMID:17591843|PMID:18694767|PMID:18762988|PMID:18940477|PMID:19208665|PMID:19359128|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20507347|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21324516|PMID:21503673|PMID:21834074|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24884479|PMID:25741868|PMID:25980754|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:27062684|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28492532|PMID:28503720|PMID:29161300|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30322717|PMID:30333958|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33449224|PMID:33471991|PMID:33484353|PMID:7894492|PMID:8531967|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504 2218 Brca1 BRCA1, DNA repair associated gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:11157798|PMID:11802209|PMID:12496476|PMID:15235020|PMID:17308087|PMID:17574969|PMID:17924331|PMID:19200354|PMID:19563646|PMID:20516115|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21702907|PMID:21965345|PMID:21990134|PMID:22889855|PMID:23867111|PMID:24055113|PMID:24569164|PMID:24845084|PMID:25472942|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26884819|PMID:27272900|PMID:28265380|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29297111|PMID:29712865|PMID:30103829|PMID:30287823|PMID:30825404|PMID:31454914|PMID:31472684|PMID:31825140|PMID:32338768|PMID:33098347|PMID:33468216|PMID:33471991 2218 Brca1 BRCA1, DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 2218 Brca1 BRCA1, DNA repair associated gene DOID:10283 prostate cancer ISO RGD:69132 D RGD:126925963|PMID:17384678 20210521 RGD mRNA, protein:splice variant 2218 Brca1 BRCA1, DNA repair associated gene DOID:10283 prostate cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12491487|PMID:15235020|PMID:15447980|PMID:16267036|PMID:17924331|PMID:21990134|PMID:24055113|PMID:24728327|PMID:24729269|PMID:25637381|PMID:25741868|PMID:28492532 2218 Brca1 BRCA1, DNA repair associated gene DOID:10283 prostate cancer no_association ISO RGD:69132 D RGD:734657|PMID:10398279 19990101 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:10283 prostate cancer severity ISO RGD:69132 D RGD:2289042|PMID:18182994 20080516 RGD DNA:deletions: :185_186del,1294_1333del,3875_3878del 2218 Brca1 BRCA1, DNA repair associated gene DOID:10534 stomach cancer ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10389907|PMID:10486320|PMID:10634513|PMID:10644434|PMID:10804288|PMID:10923033|PMID:11149425|PMID:11157798|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11506493|PMID:11595708|PMID:11597388|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12402341|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12655560|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15865297|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16267036|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19370767|PMID:19563646|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21324516|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22752604|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24569164|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24884479|PMID:25070656|PMID:25085752|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30458859|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30787465|PMID:30875412|PMID:30962250|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31780705|PMID:31825140|PMID:32072338|PMID:32123317|PMID:32295079|PMID:32341426|PMID:32486089|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32906206|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33428613|PMID:33442023|PMID:33471991|PMID:33726785|PMID:35377489|PMID:36988593|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198 2218 Brca1 BRCA1, DNA repair associated gene DOID:10534 stomach cancer susceptibility ISO RGD:69132 D RGD:126925956|PMID:25266802 20210520 RGD DNA:SNP: :rs799917 (human) 2218 Brca1 BRCA1, DNA repair associated gene DOID:10534 stomach cancer treatment ISO RGD:69132 D RGD:126925962|PMID:23633032 20210521 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:10763 hypertension treatment ISO RGD:69132 D RGD:8693672|PMID:24239235 20210608 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:11054 urinary bladder cancer ISO RGD:69132 D RGD:2293014|PMID:18094410 20080516 RGD DNA:hypermethylation:promoter 2218 Brca1 BRCA1, DNA repair associated gene DOID:1324 lung cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10486320|PMID:11739404|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12601471|PMID:16528604|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17591843|PMID:18446624|PMID:18465347|PMID:19949876|PMID:20104584|PMID:20727672|PMID:21922593|PMID:23704984|PMID:24249303|PMID:24504028|PMID:25085752|PMID:25682074|PMID:25741868|PMID:26028024|PMID:26295337|PMID:26467025|PMID:26541979|PMID:27257965|PMID:27553291|PMID:28324225|PMID:28492532|PMID:28724667|PMID:29021639|PMID:29280214|PMID:29446198|PMID:30078507|PMID:30209399|PMID:36988593|PMID:8554067|PMID:9760198 2218 Brca1 BRCA1, DNA repair associated gene DOID:14566 disease of cellular proliferation ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15520196 2218 Brca1 BRCA1, DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:33471991 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:126925963|PMID:17384678 20210521 RGD mRNA, protein:splice variant 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:127284852|PMID:27211102 20210610 RGD DNA:loss of heterozygosity,deletion, duplication: :c.1504_1508delTTAAA, c.211dupA, c.5266dupC (human) 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:2293151|PMID:18269736 20080515 RGD DNA:hypermethylation:promoter 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:734655|PMID:9167459 19990101 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32658311|PMID:32812259|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34296289|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer ISS RGD:69132 D RGD:13592920 20180518 MouseDO OMIM:114480 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:1599497|PMID:7907678 20070206 RGD DNA:mutation 2218 Brca1 BRCA1, DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:2293153|PMID:18204050 20080515 RGD mRNA:allelic imbalance:lymphocyte 2218 Brca1 BRCA1, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 2218 Brca1 BRCA1, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 PMID:10389907|PMID:10788334|PMID:10811118|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11504767|PMID:11739404|PMID:12204006|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12732733|PMID:12810666|PMID:12938098|PMID:15024741|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16949048|PMID:17100994|PMID:18273839|PMID:18680205|PMID:18763032|PMID:18783588|PMID:19208665|PMID:19370767|PMID:19594371|PMID:19770520|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20569256|PMID:20683152|PMID:21232165|PMID:21324516|PMID:21922593|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22172724|PMID:22486713|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23469205|PMID:23683081|PMID:23867111|PMID:24033266|PMID:24131973|PMID:24312913|PMID:24504028|PMID:24884479|PMID:25330149|PMID:25400221|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25948282|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26681312|PMID:26852130|PMID:26911350|PMID:27153395|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27498913|PMID:27741520|PMID:27907908|PMID:27978560|PMID:28111427|PMID:28263838|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28492532|PMID:29161300|PMID:29215753|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29492181|PMID:29667044|PMID:29797126|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30093976|PMID:30209399|PMID:30287823|PMID:30606148|PMID:31368036|PMID:31825140|PMID:32295079|PMID:32426482|PMID:32467295|PMID:32658311|PMID:33309985|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8968102|PMID:9510469|PMID:9525870|PMID:9663595 2218 Brca1 BRCA1, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:10090881|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11102986|PMID:11157798|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17307836|PMID:17308087|PMID:17591843|PMID:18036263|PMID:18273839|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24884479|PMID:25085752|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29667044|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30765603|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099 2218 Brca1 BRCA1, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 2218 Brca1 BRCA1, DNA repair associated gene DOID:219 colon cancer disease_progression ISO RGD:69132 D RGD:126925959|PMID:33583275 20210521 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:219 colon cancer susceptibility ISO RGD:69132 D RGD:1599497|PMID:7907678 20070206 RGD DNA:mutation 2218 Brca1 BRCA1, DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:126925963|PMID:17384678 20210521 RGD mRNA, protein:splice variant 2218 Brca1 BRCA1, DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:734656|PMID:9700175 19990101 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10227398|PMID:10340909|PMID:10389907|PMID:10644434|PMID:10699917|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12496476|PMID:12566964|PMID:12655560|PMID:12732733|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16168118|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16949048|PMID:17100994|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17688236|PMID:17924331|PMID:18284688|PMID:18340530|PMID:18493658|PMID:18763032|PMID:18783588|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19491284|PMID:19563646|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22889855|PMID:22970155|PMID:23161852|PMID:23199084|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25939603|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26709275|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27498913|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27831900|PMID:27907908|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28831036|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:30093976|PMID:30103829|PMID:30209399|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30825404|PMID:30875412|PMID:31131967|PMID:31159747|PMID:31214711|PMID:31372034|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31911673|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32467295|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33875706|PMID:34301763|PMID:36988593|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9510469|PMID:9663595 2218 Brca1 BRCA1, DNA repair associated gene DOID:2394 ovarian cancer susceptibility ISO RGD:69132 D RGD:2293152|PMID:18256760 20080515 RGD DNA:insertion: :5382insC 2218 Brca1 BRCA1, DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10090881|PMID:10447273|PMID:10464624|PMID:10667592|PMID:10667595|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11157798|PMID:11251181|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11802209|PMID:11896095|PMID:12125210|PMID:12393792|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12752644|PMID:12771565|PMID:12955716|PMID:14576434|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15235020|PMID:15383404|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030426|PMID:16168118|PMID:16267036|PMID:16284991|PMID:16541315|PMID:16685647|PMID:17307836|PMID:17308087|PMID:17574969|PMID:17591843|PMID:17924331|PMID:18489799|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18936166|PMID:18940477|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19340607|PMID:19359128|PMID:19563646|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21702907|PMID:21834074|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:22776961|PMID:22889855|PMID:23161852|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23683081|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24845084|PMID:24884479|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25948282|PMID:25980754|PMID:26083025|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26884819|PMID:27062684|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28265380|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29168416|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30257646|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30825404|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33098347|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:7581445|PMID:7837387|PMID:7894492|PMID:8531967|PMID:8644702|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504|PMID:9663595 2218 Brca1 BRCA1, DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:69132 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10196379|PMID:11400546|PMID:14555511|PMID:15235020|PMID:16014699|PMID:17341484|PMID:17585057|PMID:19661094|PMID:20104584|PMID:21232165|PMID:21702907|PMID:21708019|PMID:21965345|PMID:21990134|PMID:22136207|PMID:22703879|PMID:23192404|PMID:23249957|PMID:23469205|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9063749 2218 Brca1 BRCA1, DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:11179017|PMID:11956590|PMID:12698193|PMID:12955716|PMID:14517958|PMID:14760071|PMID:15145354|PMID:16455195|PMID:17645508|PMID:20104584|PMID:20727672|PMID:21702907|PMID:22711857|PMID:22798144|PMID:23469205|PMID:23479189|PMID:23633455|PMID:24884479|PMID:25256238|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26295337|PMID:26467025|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30078507|PMID:30702160|PMID:30720863|PMID:7493024 2218 Brca1 BRCA1, DNA repair associated gene DOID:305 carcinoma ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 2218 Brca1 BRCA1, DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:12920083|PMID:16287141|PMID:20104584|PMID:21232165|PMID:22923021|PMID:23397983|PMID:23635950|PMID:25741868|PMID:25940717|PMID:26295337|PMID:26306726|PMID:26467025|PMID:26852130|PMID:28492532|PMID:28740454|PMID:30940100|PMID:32772980 2218 Brca1 BRCA1, DNA repair associated gene DOID:3458 breast adenocarcinoma treatment ISO RGD:69132 D RGD:126925966|PMID:8589721 20210521 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10406662|PMID:10486320|PMID:10737987|PMID:10788334|PMID:10811118|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11359908|PMID:11431698|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11916966|PMID:11920621|PMID:12112655|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12810666|PMID:12872265|PMID:12938098|PMID:12955716|PMID:15024741|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15689452|PMID:15876480|PMID:15923272|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16528604|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16905680|PMID:16943438|PMID:16998791|PMID:17011978|PMID:17080309|PMID:17305420|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17924331|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18693280|PMID:18763032|PMID:18783588|PMID:19016756|PMID:19208665|PMID:19404736|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20215541|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20950396|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21232165|PMID:21324516|PMID:2144777|PMID:21447777|PMID:21520273|PMID:21559243|PMID:21702907|PMID:21720365|PMID:21913181|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22044689|PMID:22160602|PMID:22172724|PMID:22399190|PMID:22703879|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23233716|PMID:23239986|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23867111|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24569164|PMID:24667779|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25850536|PMID:25863477|PMID:25884701|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26656232|PMID:26681312|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27328445|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27741520|PMID:27908594|PMID:27978560|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28724667|PMID:28781887|PMID:28873162|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29233532|PMID:29280214|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30209399|PMID:30266954|PMID:30309222|PMID:30350268|PMID:30606148|PMID:30675319|PMID:30702160|PMID:30728895|PMID:30765603|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31341520|PMID:31368036|PMID:31467961|PMID:31815095|PMID:31911673|PMID:32295079|PMID:32438681|PMID:32658311|PMID:32733560|PMID:32885271|PMID:33558524|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894493|PMID:7939630|PMID:8554067|PMID:8595420|PMID:8644702|PMID:8807330|PMID:8968102|PMID:8972225|PMID:9063749|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9663595|PMID:9760198 2218 Brca1 BRCA1, DNA repair associated gene DOID:3459 breast carcinoma disease_progression ISO RGD:69132 D RGD:2293150|PMID:18400253 20080515 RGD protein:altered localization:cytoplasm 2218 Brca1 BRCA1, DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69132 D RGD:126925960|PMID:23749772 20210521 RGD DNA:SNP: :rs799917 (human) 2218 Brca1 BRCA1, DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:126925968|PMID:23128816 20210521 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:127229935|PMID:21575522 20210603 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:127229949|PMID:23335114 20210604 RGD DNA:hypermethylation:promoter 2218 Brca1 BRCA1, DNA repair associated gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69132 D RGD:127229948|PMID:24443257 20210604 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:4001 ovarian carcinoma ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10227398|PMID:10389907|PMID:10804288|PMID:11149425|PMID:11595708|PMID:11802209|PMID:12402341|PMID:12655560|PMID:15145354|PMID:15865297|PMID:16267036|PMID:16826315|PMID:18159056|PMID:19016756|PMID:20104584|PMID:20373018|PMID:21324516|PMID:21553119|PMID:21614564|PMID:22006311|PMID:22752604|PMID:22798144|PMID:23175448|PMID:23536787|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24312913|PMID:24916970|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25802882|PMID:25948282|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26709275|PMID:26848529|PMID:27062684|PMID:27741520|PMID:27831900|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28541631|PMID:28724667|PMID:28993434|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29752822|PMID:29907814|PMID:30093976|PMID:30555256|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30875412|PMID:30968603|PMID:31159747|PMID:31336956|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31825140|PMID:32318955|PMID:32438681|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33151324|PMID:33442023|PMID:36988593|PMID:7894493|PMID:8808710|PMID:9150154 2218 Brca1 BRCA1, DNA repair associated gene DOID:403 mouth disease ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 2218 Brca1 BRCA1, DNA repair associated gene DOID:4362 cervical cancer disease_progression ISO RGD:69132 D RGD:2298941|PMID:12773202 20080804 RGD DNA:hypermethylation:promoter 2218 Brca1 BRCA1, DNA repair associated gene DOID:4441 dysgerminoma ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:9150151 2218 Brca1 BRCA1, DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of head of pancreas | ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10667592|PMID:10667595|PMID:12566964|PMID:15024741|PMID:16168118|PMID:16284991|PMID:16685647|PMID:18489799|PMID:19147582|PMID:19340607|PMID:20104584|PMID:25452441|PMID:25741868|PMID:25777348|PMID:26467025|PMID:26681312|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30257646|PMID:30702160|PMID:32295079|PMID:9150174 2218 Brca1 BRCA1, DNA repair associated gene DOID:5517 stomach carcinoma disease_progression ISO RGD:69132 D RGD:9589059|PMID:23569343 20210520 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8644702|PMID:21597964 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:125827|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16633366|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:255556971|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25723446|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067557|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:33948387|PMID:34063308|PMID:34271787|PMID:34301763|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35464868|PMID:35535697|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14871810|PMID:14961556|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 2218 Brca1 BRCA1, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 2218 Brca1 BRCA1, DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:69132 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16084575|PMID:16455195|PMID:16949048|PMID:17100994|PMID:19656164|PMID:20033483|PMID:20104584|PMID:20950396|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22762150|PMID:22798144|PMID:23633455|PMID:23961350|PMID:24728189|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26402875|PMID:26467025|PMID:27167707|PMID:27836010|PMID:28111427|PMID:28492532|PMID:29348823|PMID:29446198|PMID:29907814|PMID:30257646|PMID:30702160 2218 Brca1 BRCA1, DNA repair associated gene DOID:630 genetic disease ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31911673 2218 Brca1 BRCA1, DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:9150151 2218 Brca1 BRCA1, DNA repair associated gene DOID:8584 Burkitt lymphoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:17262179|PMID:26467025|PMID:28492532|PMID:31911673 2218 Brca1 BRCA1, DNA repair associated gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69132 D RGD:2298942|PMID:10442317 20080804 RGD DNA:deletions:exon 2218 Brca1 BRCA1, DNA repair associated gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002221 Hyperplasia ISO RGD:10246 D RGD:2293156|PMID:11889595 20080516 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17585057 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002644 Premature Aging ISO RGD:10246 D RGD:10059406|PMID:12533509 20150814 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7795652|PMID:7894491|PMID:10788334|PMID:15894690|PMID:17688236 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27257965|PMID:27272900 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707 2218 Brca1 BRCA1, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27656653|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:36988593|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9004203 Chromosome Breakage ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15894690 2218 Brca1 BRCA1, DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:10090881|PMID:10359546|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10866029|PMID:10885601|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:11956590|PMID:12125210|PMID:12204006|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12601471|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15004537|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146557|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17369502|PMID:17574969|PMID:17591843|PMID:17645508|PMID:17924331|PMID:18036263|PMID:18285836|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23269703|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24131973|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24845084|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25256238|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26187060|PMID:2618727|PMID:26219728|PMID:26236408|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26786923|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852130|PMID:26884819|PMID:26913838|PMID:27062684|PMID:27083775|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29116469|PMID:29133208|PMID:29161300 2218 Brca1 BRCA1, DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720863|PMID:30765603|PMID:30825404|PMID:30875412|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31341520|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31871297|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33098347|PMID:33309985|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33646313|PMID:34413315|PMID:36988593|PMID:7493024|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9482581|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S susceptibility ISO RGD:69132 D RGD:7240710 20230517 OMIM 2218 Brca1 BRCA1, DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1599502|PMID:12203372 20080514 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203372|PMID:22767648 2218 Brca1 BRCA1, DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:2293155|PMID:17505536 20080516 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10246 D RGD:2293149|PMID:18443292 20080515 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139|PMID:24094589 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35300142|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21716271|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23698643|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:7894491|PMID:10788334|PMID:15750629|PMID:15894690|PMID:18066063|PMID:20135344|PMID:20941507|PMID:21781528|PMID:22614657|PMID:26379698|PMID:26629949|PMID:28825726 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25939603|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26656232|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28024868|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30128899|PMID:30152102|PMID:30209399|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30415210|PMID:30458859|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30630528|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31131967|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31464824|PMID:31477031|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31867841|PMID:32068069|PMID:32295079|PMID:32380732|PMID:32467295|PMID:33413596|PMID:33471991|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34981296|PMID:35402282|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10090881|PMID:10227398|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10635334|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10882858|PMID:10885601|PMID:10918303|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11466700|PMID:11506493|PMID:11526114|PMID:11573085|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11956590|PMID:12068003|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12183412|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12915465|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576432|PMID:14576434|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15689452|PMID:15726418|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16760288|PMID:16998791|PMID:17080309|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17680524|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17972177|PMID:17990525|PMID:18006916|PMID:18036263|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18273839|PMID:18284688|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:19016756|PMID:19098453|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19491284|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22516946|PMID:22535016|PMID:22652532|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929|PMID:33151324 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34301763|PMID:34981296|PMID:35402282|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10980541|PMID:10984458|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16764716|PMID:16772120|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303|PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24797986|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26778126|PMID:26779294|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28588830|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806 2218 Brca1 BRCA1, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31957001|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32195105|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32803532|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32862574|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33875706|PMID:33888336|PMID:34026625|PMID:34072659|PMID:34196900|PMID:34290354|PMID:34657373|PMID:34749799|PMID:34981296|PMID:35300142|PMID:35402282|PMID:35464868|PMID:36988593|PMID:7493024|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9699640|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472 2218 Brca1 BRCA1, DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:30209399 2218 Brca1 BRCA1, DNA repair associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:69132 D RGD:126790575|PMID:16533773 20210427 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9256 colorectal cancer onset ISO RGD:69132 D RGD:126925961|PMID:20862552 20210521 RGD 2218 Brca1 BRCA1, DNA repair associated gene DOID:9261 nasopharynx carcinoma ISO RGD:69132 D RGD:127229936|PMID:28857155 20210603 RGD DNA:nonsense mutation: :p.Q563* (human) 2218 Brca1 BRCA1, DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:10811118|PMID:11157798|PMID:11739404|PMID:12400015|PMID:15024741|PMID:16267036|PMID:20104584|PMID:21203900|PMID:21922593|PMID:24504028|PMID:25741868|PMID:26467025|PMID:27469594|PMID:28492532|PMID:29446198|PMID:29681614|PMID:30209399|PMID:7894493|PMID:8807330|PMID:9667259 2219 Brca2 BRCA2, DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:10247 D RGD:11038793|PMID:17476307 20160225 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:7240710 20130221 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:0060074 ductal carcinoma in situ onset ISO RGD:736254 D RGD:2289048|PMID:16280055 20080117 RGD DNA:missense mutation: :5972C>T 2219 Brca2 BRCA2, DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment IEP D RGD:127284854|PMID:25861310 20210610 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736254 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive PMID:24389050|PMID:25558065 2219 Brca2 BRCA2, DNA repair associated gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:736254 D RGD:126925969|PMID:11497291 20210521 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:0080600 COVID-19 ISO RGD:736254 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2219 Brca2 BRCA2, DNA repair associated gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:11802209|PMID:12601471|PMID:15290653|PMID:16683254|PMID:17026620|PMID:17924331|PMID:17997147|PMID:18060494|PMID:18593900|PMID:18607349|PMID:18951461|PMID:21990134|PMID:22505045|PMID:22711857|PMID:24052750|PMID:24323938|PMID:24549055|PMID:25639900|PMID:25741868|PMID:25863477|PMID:26467025|PMID:26633542|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28724667|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30441849|PMID:30630528|PMID:30716324|PMID:30720243|PMID:31409081|PMID:31658756|PMID:31753525|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32939053|PMID:33293522|PMID:33753322|PMID:35260348|PMID:35438911 2219 Brca2 BRCA2, DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:7240710 20130425 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:10188893|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11062481|PMID:11106241|PMID:11149425|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11447276|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11896095|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12402332|PMID:12442171|PMID:12442265|PMID:12442274|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624724|PMID:12655567|PMID:12670525|PMID:12684407|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12845657|PMID:12920083|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15533909|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15918047|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16550498|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17333343|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:1843150|PMID:18431501|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:18844490|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19540122|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19747923|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20589654|PMID:20608899|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21147080|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067 2219 Brca2 BRCA2, DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21769658|PMID:21789034|PMID:21913181|PMID:21939546|PMID:21952622|PMID:21965345|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22638694|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22753899|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23249957|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25146914|PMID:25186627|PMID:25203624|PMID:25233892|PMID:25256924|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25863477|PMID:25896959|PMID:25948282|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26155992|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26332594|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26740091|PMID:26740942|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26867194|PMID:26898890|PMID:26915939|PMID:26920070|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27208206|PMID:27257965|PMID:27273131|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27633797|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28132688|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28364669|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28640387|PMID:28664449|PMID:28678401|PMID:28687971|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28807866|PMID:28814288|PMID:28831036|PMID:28843361 2219 Brca2 BRCA2, DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:2928257|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29416040|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29560538|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29681614|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30055349|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30207912|PMID:30212499|PMID:30254663|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30472649|PMID:30489631|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:3108138|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31869745|PMID:31911673|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32046981|PMID:32068069|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32123317|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32606146|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32984025|PMID:33067490|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33552952|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33731496|PMID:33773808|PMID:33868589|PMID:33918338|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34101484|PMID:34196900|PMID:34218100|PMID:34250417|PMID:34308366|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34741701|PMID:35464868|PMID:35535697|PMID:36988593|PMID:4055113|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9771877|PMID:9792861|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 2219 Brca2 BRCA2, DNA repair associated gene DOID:10283 prostate cancer IEP D RGD:2289050|PMID:16273225 20080117 RGD protein:decreased expression:prostate gland 2219 Brca2 BRCA2, DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:7240710 20180418 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:1|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11170288|PMID:11179017|PMID:11267991|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11938448|PMID:12065746|PMID:12373604|PMID:12414830|PMID:12474142|PMID:12569143|PMID:12655567|PMID:12672316|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15728167|PMID:15876480|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16539696|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16826315|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:17997147|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18824701|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21156238|PMID:21205087|PMID:21232165|PMID:21324516|PMID:21520273|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23318356|PMID:23328489|PMID:23397983|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23635950|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448499|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25366421|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28222693|PMID:28277317|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28687356|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613824|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877 2219 Brca2 BRCA2, DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34445631|PMID:34567246|PMID:34917121|PMID:35472165|PMID:35535697|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:10283 prostate cancer disease_progression ISO RGD:736254 D RGD:2289042|PMID:18182994 20080117 RGD DNA:mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11251181|PMID:11389159|PMID:11400546|PMID:11595708|PMID:11597388|PMID:11793480|PMID:11802209|PMID:11857748|PMID:11897832|PMID:11920621|PMID:11938448|PMID:12065746|PMID:12142080|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12373604|PMID:12442265|PMID:12774040|PMID:12955716|PMID:14517958|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15290653|PMID:15548363|PMID:15645491|PMID:15689453|PMID:15695382|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17351952|PMID:17513806|PMID:17576681|PMID:17688236|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18703817|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19795481|PMID:19796187|PMID:19805903|PMID:19912264|PMID:20104584|PMID:20215541|PMID:20373018|PMID:20406929|PMID:20513136|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21138478|PMID:21190077|PMID:21233401|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21559243|PMID:21598239|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22866093|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23265383|PMID:23328489|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23593081|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23767878|PMID:23929434|PMID:23942203|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25186627|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26183948|PMID:26187060|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26306726|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26586665|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26834852|PMID:26845104|PMID:26848529|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27271530|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27914478|PMID:28008555|PMID:28039656|PMID:28090007|PMID:28102861|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28541631|PMID:28655807|PMID:28657667|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28857155|PMID:28993434|PMID:29020732 2219 Brca2 BRCA2, DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29673794|PMID:29681614|PMID:29707112|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30441849|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883759|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31454914|PMID:31497750|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32072338|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32365798|PMID:32393398|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32778078|PMID:32820175|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32959997|PMID:32980694|PMID:33054725|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34235180|PMID:34399810|PMID:34490083|PMID:34567246|PMID:34645131|PMID:34680387|PMID:35535697|PMID:35731312|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8705994|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9150172|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1059 intellectual disability ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:10969800|PMID:18182994|PMID:20104584|PMID:21895635|PMID:22711857|PMID:22762150|PMID:23569316|PMID:24156927|PMID:24312913|PMID:24764757|PMID:25741868|PMID:26467025|PMID:27616075|PMID:28127413|PMID:28492532|PMID:28767289|PMID:29446198 2219 Brca2 BRCA2, DNA repair associated gene DOID:1107 esophageal carcinoma ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:17972177|PMID:18431501|PMID:18627636|PMID:18779604|PMID:21120943|PMID:21218378|PMID:21523855|PMID:22126563|PMID:22293751|PMID:22486713|PMID:23555315|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28222693|PMID:28492532|PMID:35464868 2219 Brca2 BRCA2, DNA repair associated gene DOID:1148 polydactyly ISO RGD:736254 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:20104584|PMID:25236687|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28281021|PMID:28492532|PMID:29446198|PMID:30630528|PMID:34196900 2219 Brca2 BRCA2, DNA repair associated gene DOID:11994 atrophy of testis IMP D RGD:727990|PMID:12754522 20210218 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:13636 Fanconi anemia ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11030417|PMID:11185744|PMID:12491487|PMID:12955716|PMID:12960223|PMID:14670928|PMID:15026808|PMID:15070707|PMID:15635067|PMID:15645491|PMID:15876480|PMID:16825431|PMID:17924331|PMID:17972177|PMID:18284688|PMID:18431501|PMID:18627636|PMID:18779604|PMID:19043619|PMID:20104584|PMID:20127978|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21523855|PMID:21548014|PMID:21702907|PMID:21719596|PMID:21990134|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22228431|PMID:22293751|PMID:22486713|PMID:22874498|PMID:23555315|PMID:23704879|PMID:23893897|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27376475|PMID:28222693|PMID:28492532|PMID:28831036|PMID:29310832|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29753700|PMID:29884841|PMID:30254663|PMID:31131967|PMID:31911673|PMID:32398771|PMID:35464868 2219 Brca2 BRCA2, DNA repair associated gene DOID:13636 Fanconi anemia susceptibility ISO RGD:736254 D RGD:734658|PMID:12065746 20070206 RGD DNA:mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:1380 endometrial cancer ISO RGD:736254 D RGD:2296027|PMID:10451700 20080623 RGD DNA:deletion, frameshift mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11030418|PMID:12491487|PMID:15744044|PMID:15937982|PMID:15983021|PMID:16758124|PMID:20167696|PMID:21523855|PMID:22034289|PMID:24504028|PMID:24728327|PMID:24814045|PMID:25058500|PMID:25348012|PMID:25503501|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27165003|PMID:28223274|PMID:28492532|PMID:28814288|PMID:29061375|PMID:29394989|PMID:29849630|PMID:29881398|PMID:29884841|PMID:30055349|PMID:30254663|PMID:30287823|PMID:30374176|PMID:30883759|PMID:32123317|PMID:33233347|PMID:33471991|PMID:33609447 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:7240710 20180711 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18097605|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32098980|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34503154|PMID:35464868|PMID:35535697|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12815053|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28377418|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28502252|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29136510|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30672594|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31069257|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31161121|PMID:31173646|PMID:31174203|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32002120|PMID:32039725|PMID:32059136|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32206145|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34309133|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1614 male breast cancer ISO RGD:736254 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Breast cancer, male PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 2219 Brca2 BRCA2, DNA repair associated gene DOID:162 cancer IMP D RGD:1599505|PMID:16964288 20210426 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21613821|PMID:26098869 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:7240710 20130221 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29907814 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:736254 D RGD:9068467|PMID:22187320 20140820 RGD DNA:mutations: : 2219 Brca2 BRCA2, DNA repair associated gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:15145354|PMID:22762150|PMID:25741868|PMID:29446198 2219 Brca2 BRCA2, DNA repair associated gene DOID:1909 melanoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532|PMID:31911673 2219 Brca2 BRCA2, DNA repair associated gene DOID:1909 melanoma susceptibility ISO RGD:736254 D RGD:9068469|PMID:18024013 20140820 RGD DNA:polymorphism:cds:p.N991D(human) 2219 Brca2 BRCA2, DNA repair associated gene DOID:1969 cerebral palsy ISO RGD:736254 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:17576681|PMID:19530235|PMID:21548014|PMID:22632462|PMID:23613520|PMID:25525159|PMID:25741868|PMID:26064523|PMID:26467025|PMID:27376475|PMID:28492532|PMID:9536098 2219 Brca2 BRCA2, DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:7240710 20130221 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:2154 nephroblastoma susceptibility ISO RGD:736254 D RGD:2289049|PMID:15689453 20080117 RGD DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G 2219 Brca2 BRCA2, DNA repair associated gene DOID:2234 focal epilepsy ISO RGD:736254 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:10923033|PMID:18779604|PMID:20104584|PMID:25741868|PMID:26467025|PMID:27425403|PMID:27741520|PMID:28087643|PMID:28492532|PMID:29161300|PMID:29446198|PMID:29907814|PMID:31446535|PMID:34287479 2219 Brca2 BRCA2, DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15340362|PMID:16168118|PMID:17899372|PMID:17972171|PMID:18042939|PMID:18779604|PMID:19043619|PMID:19499246|PMID:20104584|PMID:20736950|PMID:21120943|PMID:21218378|PMID:22126563|PMID:24055113|PMID:24156927|PMID:24470074|PMID:24728327|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26295337|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30078507|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31174498|PMID:31248605|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32444794|PMID:32521533|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991 2219 Brca2 BRCA2, DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:11597388|PMID:12215251|PMID:12474142|PMID:12684407|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15340362|PMID:15365993|PMID:16168118|PMID:16261408|PMID:17657584|PMID:17899372|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18607349|PMID:18627636|PMID:18779604|PMID:18824701|PMID:18844490|PMID:19016756|PMID:19043619|PMID:19499246|PMID:19656164|PMID:20104584|PMID:20215541|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21218378|PMID:21520273|PMID:21671020|PMID:21702907|PMID:21952622|PMID:22126563|PMID:22366370|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22703879|PMID:22921312|PMID:23108138|PMID:23231788|PMID:23469205|PMID:23729402|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24728327|PMID:24817641|PMID:24884479|PMID:25151137|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25980754|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26295337|PMID:26332594|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26848529|PMID:26852015|PMID:27124784|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28961279|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30286154|PMID:30287823|PMID:30415210|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31131967|PMID:31143303|PMID:31174498|PMID:31248605|PMID:31447099|PMID:31721094|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31911673|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32211327|PMID:32318955|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32623769|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33087929|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8840963|PMID:9150172|PMID:9579822|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:9068461|PMID:14757868 20140819 RGD DNA:deletion:cds:p.R2744-G2748del(human) 2219 Brca2 BRCA2, DNA repair associated gene DOID:2394 ovarian cancer disease_progression ISO RGD:736254 D RGD:2289046|PMID:18165636 20080117 RGD DNA:deletion: :6174delT 2219 Brca2 BRCA2, DNA repair associated gene DOID:2394 ovarian cancer no_association ISO RGD:736254 D RGD:9068468|PMID:18431743 20140820 RGD DNA:SNP:cds:p.N372H (rs144848)(human) 2219 Brca2 BRCA2, DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10227398|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10570174|PMID:10595255|PMID:10733239|PMID:10739756|PMID:11267991|PMID:11359068|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11920643|PMID:11938448|PMID:12097257|PMID:12402332|PMID:12473589|PMID:12569143|PMID:12672316|PMID:12698193|PMID:12955716|PMID:14559878|PMID:14576434|PMID:15340362|PMID:15695382|PMID:15994883|PMID:16683254|PMID:16825431|PMID:17148771|PMID:17591843|PMID:17850627|PMID:18607349|PMID:19188187|PMID:19530235|PMID:19949876|PMID:20104584|PMID:20216074|PMID:20301425|PMID:20736950|PMID:20859677|PMID:20887823|PMID:21324516|PMID:21614564|PMID:21720365|PMID:22006311|PMID:22009639|PMID:22430266|PMID:22476429|PMID:22703879|PMID:22923021|PMID:23199084|PMID:23341105|PMID:23469205|PMID:23569316|PMID:23633455|PMID:23658460|PMID:24033266|PMID:24156927|PMID:24448499|PMID:24504028|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25085752|PMID:25348012|PMID:25395318|PMID:25741868|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26577449|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26867194|PMID:27153395|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27831900|PMID:27836010|PMID:27974047|PMID:27989354|PMID:28492532|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28873162|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29288066|PMID:29321669|PMID:29335925|PMID:29339979|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30267214|PMID:30274973|PMID:30322717|PMID:30489631|PMID:30555256|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30787465|PMID:30875412|PMID:30883245|PMID:31090900|PMID:31263054|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31825140|PMID:31911673|PMID:31948886|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32853339|PMID:32885271|PMID:32918181|PMID:33077847|PMID:33087929|PMID:33654310|PMID:34308366|PMID:34399810|PMID:8075631|PMID:8524414|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9585608|PMID:9585613|PMID:9758598 2219 Brca2 BRCA2, DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:736254 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:11062481|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:22703879|PMID:24033266|PMID:24323938|PMID:24728327|PMID:25741868|PMID:28492532 2219 Brca2 BRCA2, DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:14973102|PMID:15145354|PMID:17899372|PMID:18627636|PMID:18779604|PMID:19043619|PMID:19499246|PMID:21218378|PMID:22126563|PMID:22476429|PMID:24470074|PMID:24728327|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28993434|PMID:29192238|PMID:29240602|PMID:29394989|PMID:29681614|PMID:29752822|PMID:29988080|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31825140|PMID:31837001|PMID:31911673|PMID:32444794|PMID:32879886|PMID:33428613|PMID:33471991 2219 Brca2 BRCA2, DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:7240710 20130221 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19949876|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31209999|PMID:32295079|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29161300|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30078507|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31331294|PMID:31837001|PMID:31957001|PMID:32098980|PMID:32101877|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32521533|PMID:32875559|PMID:32885271|PMID:33461583|PMID:33471991|PMID:33478551|PMID:34567246|PMID:35535697|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34567246|PMID:35535697|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:3168 squamous cell neoplasm ISO RGD:736254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 2219 Brca2 BRCA2, DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10188893|PMID:10790213|PMID:11802209|PMID:11920621|PMID:12442265|PMID:12774040|PMID:15024741|PMID:15645491|PMID:15800615|PMID:16234499|PMID:16683254|PMID:16912212|PMID:17688236|PMID:18465347|PMID:18489799|PMID:19016756|PMID:19563646|PMID:19620486|PMID:20104584|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21520333|PMID:21643751|PMID:21702907|PMID:21719596|PMID:21952622|PMID:22006311|PMID:22752604|PMID:22762150|PMID:22798144|PMID:23199084|PMID:23479189|PMID:23531862|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24504028|PMID:24528374|PMID:24578176|PMID:24728189|PMID:24814045|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25863477|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26360800|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787237|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28831036|PMID:28993434|PMID:29084914|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29368341|PMID:29446198|PMID:29489754|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29907814|PMID:30274973|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30548481|PMID:30612635|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:31263571|PMID:31360904|PMID:31447099|PMID:31589614|PMID:31825140|PMID:32164353|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32719484|PMID:32853339|PMID:32885271|PMID:33087929|PMID:33372952|PMID:34399810|PMID:36988593|PMID:8589730 2219 Brca2 BRCA2, DNA repair associated gene DOID:3302 chordoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chordoma PMID:10923033|PMID:11304778|PMID:11873550|PMID:11920621|PMID:12100744|PMID:12161607|PMID:12228710|PMID:12442265|PMID:12442273|PMID:12774040|PMID:15172753|PMID:15645491|PMID:15800311|PMID:15944772|PMID:16205630|PMID:16683254|PMID:17018160|PMID:17924331|PMID:17997147|PMID:18256760|PMID:18451181|PMID:19043619|PMID:19200354|PMID:19563646|PMID:19656415|PMID:20104584|PMID:21120943|PMID:21520333|PMID:21638052|PMID:21702907|PMID:21719596|PMID:21952622|PMID:21990134|PMID:22194698|PMID:22366370|PMID:22476429|PMID:22703879|PMID:22798144|PMID:22811390|PMID:23108138|PMID:24033266|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24323938|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24728327|PMID:25447315|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25948282|PMID:26109977|PMID:26145171|PMID:26287763|PMID:26467025|PMID:27062684|PMID:27153395|PMID:27376475|PMID:27616075|PMID:28492532|PMID:28945843|PMID:29348823|PMID:29394989|PMID:29446198|PMID:29785135|PMID:29884841|PMID:29988080|PMID:30032850|PMID:30309222|PMID:30447919|PMID:30702160|PMID:31060523|PMID:31409081|PMID:31742824|PMID:31843900|PMID:31911673|PMID:32885271|PMID:33293522|PMID:33372952|PMID:33471991|PMID:33609447|PMID:34350294|PMID:36988593 2219 Brca2 BRCA2, DNA repair associated gene DOID:3347 osteosarcoma IAGP D RGD:1599505|PMID:16964288 20070206 RGD DNA:nonsense mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:3457 invasive lobular carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Invasive lobular breast carcinoma PMID:14973102|PMID:25741868|PMID:27257965|PMID:28222693|PMID:28492532|PMID:28664449|PMID:31911673 2219 Brca2 BRCA2, DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:1|PMID:10449599|PMID:10550133|PMID:10638982|PMID:10660329|PMID:10699917|PMID:10790213|PMID:10807692|PMID:10978364|PMID:11044354|PMID:11062481|PMID:11179017|PMID:11556836|PMID:11597388|PMID:11802209|PMID:11897832|PMID:11927503|PMID:12112655|PMID:12142080|PMID:12655560|PMID:14555511|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15217494|PMID:15235023|PMID:15571962|PMID:15689453|PMID:15887246|PMID:16168118|PMID:16170354|PMID:16199547|PMID:16418514|PMID:16683254|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17148771|PMID:17565157|PMID:17576681|PMID:17591843|PMID:17767707|PMID:17826769|PMID:17924331|PMID:17997147|PMID:18042939|PMID:18375895|PMID:18393245|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18597679|PMID:18607349|PMID:18821011|PMID:18824701|PMID:19016756|PMID:19478387|PMID:19620486|PMID:19656164|PMID:20104584|PMID:20135345|PMID:20373018|PMID:20406929|PMID:20589654|PMID:20960228|PMID:21138478|PMID:21156238|PMID:21232165|PMID:21324516|PMID:21520333|PMID:21548014|PMID:21643751|PMID:21913181|PMID:219131812|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23199084|PMID:23397983|PMID:23451180|PMID:23479189|PMID:23683081|PMID:23857704|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24728327|PMID:24814045|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25186627|PMID:25366421|PMID:25382762|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26026974|PMID:26183948|PMID:26187060|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27165220|PMID:27257965|PMID:27271530|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27478808|PMID:27537391|PMID:27741520|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28135145|PMID:28176296|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28692638|PMID:28724667|PMID:28726808|PMID:28825054|PMID:28831036|PMID:28947987|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360550|PMID:29433453|PMID:29446198|PMID:29483665|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32393398|PMID:32427313|PMID:32467295|PMID:32581362|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32776218|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33891299|PMID:33918338|PMID:34399810|PMID:34445631|PMID:36988593|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8706004|PMID:8988179|PMID:9042907|PMID:9150150|PMID:9150155|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9634522|PMID:9643283|PMID:9667259|PMID:9766673|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736254 D RGD:11344913|PMID:21279724 20160708 RGD DNA:nonsense mutation: :p.K3326X (human) 2219 Brca2 BRCA2, DNA repair associated gene DOID:3883 Lynch syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 2219 Brca2 BRCA2, DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23683081|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25382762|PMID:25479140|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29785153|PMID:29907814|PMID:30262796|PMID:30309222|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32444794|PMID:32719484|PMID:33087929|PMID:33471991|PMID:33606809|PMID:33609447|PMID:36988593|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5041 esophageal cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532|PMID:31911673 2219 Brca2 BRCA2, DNA repair associated gene DOID:5223 infertility IMP D RGD:727990|PMID:12754522 20180430 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21597964 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:7240710 20190410 OMIM 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17640379|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11512557|PMID:11556836|PMID:11595708|PMID:11597388|PMID:116985367|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:121769658|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20736950|PMID:20804917|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27603373|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31957001|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33087175|PMID:33113089|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33672545|PMID:33726785|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004 2219 Brca2 BRCA2, DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:736254 D RGD:8554872 20181211 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16793542|PMID:18704680|PMID:25741868 2219 Brca2 BRCA2, DNA repair associated gene DOID:5750 endometrial serous adenocarcinoma susceptibility ISO RGD:736254 D RGD:2289045|PMID:16650962 20080117 RGD DNA:deletion: :6174delT 2219 Brca2 BRCA2, DNA repair associated gene DOID:6039 uveal melanoma susceptibility ISO RGD:736254 D RGD:9068467|PMID:22187320 20140820 RGD DNA:mutations: : 2219 Brca2 BRCA2, DNA repair associated gene DOID:630 genetic disease ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15131399|PMID:15382066|PMID:16683254|PMID:16905680|PMID:16912212|PMID:17026620|PMID:18593900|PMID:18607349|PMID:18703817|PMID:20104584|PMID:20694749|PMID:21324516|PMID:22430266|PMID:22711857|PMID:24033266|PMID:24156927|PMID:24549055|PMID:25256924|PMID:25639900|PMID:25741868|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26295337|PMID:26467025|PMID:26633542|PMID:26681312|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28767289|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30322717|PMID:30609409|PMID:30630528|PMID:30716324|PMID:30720243|PMID:30787465|PMID:31658756|PMID:31753525|PMID:31911673|PMID:32255556|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32939053|PMID:33087929|PMID:33293522|PMID:33753322|PMID:33850299|PMID:35260348|PMID:35438911 2219 Brca2 BRCA2, DNA repair associated gene DOID:6364 migraine ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine PMID:15070707|PMID:16030099|PMID:16758124|PMID:17020472|PMID:18783588|PMID:20104584|PMID:20960228|PMID:21232165|PMID:21553119|PMID:21918853|PMID:22430266|PMID:22460208|PMID:22923021|PMID:23479189|PMID:24033266|PMID:25741868|PMID:26026974|PMID:26295337|PMID:26350514|PMID:26467025|PMID:28127413|PMID:28184943|PMID:28477318|PMID:28492532|PMID:28503720|PMID:29084914|PMID:29446198|PMID:29560538|PMID:30274973|PMID:30322717|PMID:30720863|PMID:32427313|PMID:33471991|PMID:34449592 2219 Brca2 BRCA2, DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:25741868 2219 Brca2 BRCA2, DNA repair associated gene DOID:687 hepatoblastoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10717622|PMID:15937982|PMID:17826769|PMID:19941162|PMID:21120943|PMID:21769658|PMID:23056405|PMID:23893897|PMID:24884479|PMID:25348012|PMID:25741868|PMID:26467025|PMID:26933808|PMID:27741520|PMID:28492532|PMID:30212499|PMID:31911673|PMID:33471991|PMID:33643918|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:7141 prostate small cell carcinoma ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metastatic Prostate Small Cell Carcinoma PMID:10660329|PMID:11597388|PMID:11802209|PMID:15024741|PMID:15689453|PMID:18393245|PMID:20104584|PMID:21952622|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26439132|PMID:26467025|PMID:27257965|PMID:27433846|PMID:27836010|PMID:28039656|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29446198|PMID:30078507|PMID:30093976|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30875412|PMID:31263054|PMID:31447099|PMID:31742824|PMID:31825140|PMID:32295079|PMID:32318955|PMID:32341426|PMID:32467295|PMID:32710294|PMID:32853339|PMID:33608381|PMID:33918338|PMID:36988593 2219 Brca2 BRCA2, DNA repair associated gene DOID:7188 autoimmune thyroiditis ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:12373604|PMID:25682074|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 2219 Brca2 BRCA2, DNA repair associated gene DOID:74 hematopoietic system disease ISO RGD:10247 D RGD:11038791|PMID:16859999 20160225 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:769 neuroblastoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:16284991|PMID:19043619|PMID:20127978|PMID:21702907|PMID:22034289|PMID:22711857|PMID:24163242|PMID:25741868|PMID:26467025|PMID:26822237|PMID:28492532|PMID:29884841|PMID:30287823|PMID:31112341|PMID:31131967|PMID:31294896|PMID:31911673|PMID:33428613|PMID:33609447 2219 Brca2 BRCA2, DNA repair associated gene DOID:83 cataract IAGP D RGD:1599505|PMID:16964288 20070206 RGD DNA:nonsense mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:83 cataract IMP D RGD:1599505|PMID:16964288 20210429 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:8923 skin melanoma disease_progression ISO RGD:736254 D RGD:11344896|PMID:25243787 20160707 RGD DNA:SNP: :rs206118, rs3752447, rs10492396 (human) 2219 Brca2 BRCA2, DNA repair associated gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053608|PMID:21748659 20160225 RGD mRNA,protein:increased expression:spinal cord: 2219 Brca2 BRCA2, DNA repair associated gene DOID:9000217 Stomach Neoplasms ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12065746|PMID:16199547|PMID:16920162|PMID:20104584|PMID:22632462|PMID:22798144|PMID:24033266|PMID:24301060|PMID:24607278|PMID:24916970|PMID:25382762|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26834852|PMID:27741520|PMID:28111427|PMID:28492532|PMID:29907814|PMID:30078507|PMID:30606148|PMID:31131967|PMID:31331294|PMID:35535697|PMID:36988593 2219 Brca2 BRCA2, DNA repair associated gene DOID:9000357 Male Breast Neoplasms susceptibility ISO RGD:736254 D RGD:2289043|PMID:18042939 20080117 RGD DNA:mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:736254 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2219 Brca2 BRCA2, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17688236 2219 Brca2 BRCA2, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10417300|PMID:10449599|PMID:10464624|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10733239|PMID:10739756|PMID:10790213|PMID:11149425|PMID:11179017|PMID:11389159|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:12097290|PMID:12402332|PMID:12461697|PMID:12473589|PMID:12624152|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14732925|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15340362|PMID:15689453|PMID:15695382|PMID:15744030|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16760289|PMID:16764716|PMID:16825431|PMID:17026620|PMID:17148771|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17924331|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18439106|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18704680|PMID:18783588|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19941162|PMID:19941167|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20216074|PMID:20301425|PMID:20608899|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21138478|PMID:21205087|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21520333|PMID:21643751|PMID:21709188|PMID:21913181|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23199084|PMID:23231788|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23940062|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24728189|PMID:24737347|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25980754|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26867194|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28152038|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28423363|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28947987|PMID:28973083|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30489631|PMID:30548481|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533 2219 Brca2 BRCA2, DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:32581362|PMID:32710294|PMID:32719484|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33077847|PMID:33087929|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33808557|PMID:33891299|PMID:33918338|PMID:34308366|PMID:34309133|PMID:34399810|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9758598 2219 Brca2 BRCA2, DNA repair associated gene DOID:9002762 Ovarian Neoplasms susceptibility IAGP D RGD:1599505|PMID:16964288 20080117 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:9003042 male breast carcinoma ISO RGD:736254 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Male breast carcinoma PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 2219 Brca2 BRCA2, DNA repair associated gene DOID:9005172 Lung Neoplasms ISO RGD:736254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30760827 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:35886069|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:35886069|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25974703|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35980532|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9836472|PMID:9840533|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008344 Invasive Breast Carcinoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Invasive breast carcinoma PMID:25741868|PMID:28492532|PMID:31825140|PMID:31911673 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:20135344|PMID:22614657|PMID:28825726 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32444794|PMID:32455662|PMID:32761968|PMID:33233347|PMID:33428613|PMID:33471991|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27469594|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32613071|PMID:32761968|PMID:32980694|PMID:33054725|PMID:33233347|PMID:33428613|PMID:33471991|PMID:34072659|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29487695|PMID:29492181|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31396961|PMID:31428572|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31948886|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32613071|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33078592|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33726785|PMID:34046351|PMID:34072659|PMID:34567246|PMID:35300142|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17011979|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33726785|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34308366|PMID:34399810|PMID:34567246|PMID:35300142|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:736254 D RGD:1599503|PMID:8524414 20070206 RGD DNA:mutation 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:1|PMID:10070953|PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044644|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11180605|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11979449|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12402332|PMID:12414830|PMID:12442265|PMID:12442274|PMID:12442275|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12670525|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12845657|PMID:12872265|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16574953|PMID:16619214|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16978908|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17333343|PMID:17341484|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18256760|PMID:18257128|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18547621|PMID:18559594 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:18563556|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951461|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20513136|PMID:20567915|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20878484|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23397983|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23767878|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24333842|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25112434|PMID:25136594|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25850536|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25896959|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26145171|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26633542|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26824983|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26911350|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26997744|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27165220|PMID:27194814|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27276934|PMID:27300552|PMID:27352968|PMID:27376475|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27658390|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28176296|PMID:28179634|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28714951|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29116469|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:2928257 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29288066|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29802286|PMID:29805665|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30340782|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31550176|PMID:31589614|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32284662|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32359129|PMID:32365798|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32486089|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32566972|PMID:32570879|PMID:32581362|PMID:32599251|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32984025|PMID:33054725|PMID:33067490|PMID:33077847|PMID:33078592 2219 Brca2 BRCA2, DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:33087929|PMID:33113089|PMID:33151324|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875706|PMID:33891299|PMID:33918338|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34445631|PMID:34490083|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35300142|PMID:35438911|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35753294|PMID:35886069|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9579822|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9971877 2219 Brca2 BRCA2, DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2219 Brca2 BRCA2, DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:33609447 2219 Brca2 BRCA2, DNA repair associated gene DOID:9256 colorectal cancer severity ISO RGD:736254 D RGD:126790575|PMID:16533773 20210427 RGD 2219 Brca2 BRCA2, DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11030418|PMID:11158174|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15689453|PMID:16115142|PMID:16825431|PMID:16912212|PMID:17100994|PMID:17513806|PMID:17924331|PMID:18465347|PMID:18703817|PMID:19043619|PMID:19241424|PMID:20104584|PMID:20736950|PMID:21138478|PMID:21203900|PMID:21324516|PMID:21520273|PMID:21598239|PMID:21719596|PMID:21952622|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23108138|PMID:23199084|PMID:23469205|PMID:23767878|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24323938|PMID:24504028|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25476495|PMID:25583207|PMID:25741868|PMID:25782689|PMID:26014432|PMID:26026974|PMID:26064523|PMID:26250392|PMID:26295337|PMID:26467025|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26845104|PMID:27153395|PMID:27194814|PMID:27257965|PMID:27425403|PMID:27495310|PMID:27741520|PMID:27831900|PMID:28111427|PMID:28195393|PMID:28324225|PMID:28492532|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29368341|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29575201|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30199306|PMID:30217213|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31112363|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32719484|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:33054725|PMID:33087929|PMID:33478551|PMID:33558524|PMID:33891299|PMID:34008015|PMID:34072659|PMID:34399810|PMID:36988593|PMID:8524414|PMID:8665505|PMID:9585613|PMID:9667259 2220 Bsg basigin (Ok blood group) gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:10249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2220 Bsg basigin (Ok blood group) gene DOID:0080600 COVID-19 ISO RGD:10249 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:32307653 2220 Bsg basigin (Ok blood group) gene DOID:14067 Plasmodium falciparum malaria ISO RGD:10249 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:22080952|PMID:26195724 2220 Bsg basigin (Ok blood group) gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:10249 D RGD:2289051|PMID:17671123 20080118 RGD 2220 Bsg basigin (Ok blood group) gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:10249 D RGD:2296029|PMID:17342307 20080623 RGD protein:increased expression:endometrium 2220 Bsg basigin (Ok blood group) gene DOID:3007 breast ductal carcinoma ISO RGD:10249 D RGD:2289059|PMID:9154157 20080118 RGD mRNA:increased expression:breast 2220 Bsg basigin (Ok blood group) gene DOID:3907 lung squamous cell carcinoma ISO RGD:10249 D RGD:2289059|PMID:9154157 20080118 RGD mRNA:increased expression:lung 2220 Bsg basigin (Ok blood group) gene DOID:4362 cervical cancer disease_progression ISO RGD:10249 D RGD:2296028|PMID:18223224 20080623 RGD 2220 Bsg basigin (Ok blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:10249 D RGD:2289052|PMID:17021824 20080118 RGD protein:increased expression:kidney 2220 Bsg basigin (Ok blood group) gene DOID:5744 ovary serous adenocarcinoma ISO RGD:10249 D RGD:2289053|PMID:16633062 20080118 RGD protein:increased expression:ovary 2220 Bsg basigin (Ok blood group) gene DOID:630 genetic disease ISO RGD:10249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2220 Bsg basigin (Ok blood group) gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:10249 D RGD:2289055|PMID:16004819 20080118 RGD associated with Breast Neoplasms 2220 Bsg basigin (Ok blood group) gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:10249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18647594 2220 Bsg basigin (Ok blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:10249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 2220 Bsg basigin (Ok blood group) gene DOID:9002170 Experimental Neoplasms ISO RGD:10249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 2220 Bsg basigin (Ok blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:10249 D RGD:2289054|PMID:16627983 20080118 RGD 2220 Bsg basigin (Ok blood group) gene DOID:9004009 Reperfusion Injury IEP D RGD:2289063|PMID:16029217 20080118 RGD protein:increased expression:basal ganglia 2220 Bsg basigin (Ok blood group) gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 2220 Bsg basigin (Ok blood group) gene DOID:9007456 Female Infertility ISO RGD:10248 D RGD:734663|PMID:9559645 19990101 RGD 2222 Nsg1 neuronal vesicle trafficking associated 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737576 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:114 heart disease ISO RGD:735544 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:1826 epilepsy ISO RGD:735544 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:1826 epilepsy ISS RGD:10251 D RGD:13592920 20180518 MouseDO 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:630 genetic disease ISO RGD:735544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2223 Bsn bassoon (presynaptic cytomatrix protein) gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735544 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 2224 Btg1 BTG anti-proliferation factor 1 gene DOID:11801 protein-energy malnutrition IEP D RGD:631316|PMID:11952159 20080804 RGD mRNA:increased expression:liver 2224 Btg1 BTG anti-proliferation factor 1 gene DOID:5419 schizophrenia ISO RGD:736072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 2224 Btg1 BTG anti-proliferation factor 1 gene DOID:630 genetic disease ISO RGD:736072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2224 Btg1 BTG anti-proliferation factor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2224 Btg1 BTG anti-proliferation factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736072 D RGD:1549463|PMID:15449376 19990101 RGD 2224 Btg1 BTG anti-proliferation factor 1 gene DOID:9538 multiple myeloma ISO RGD:736072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2289078|PMID:9712737 20080118 RGD mRNA:increased expression:liver, kidney, pancreas 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:69157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69157 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:1612 breast cancer ISO RGD:69157 D RGD:2289068|PMID:16849553 20080118 RGD protein:decreased expression:breast, nucleus 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:2316 brain ischemia IEP D RGD:2289081|PMID:7684483 20080121 RGD mRNA:increased expression:forebrain (rat) 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:69157 D RGD:2289069|PMID:14996721 20080118 RGD mRNA:decreased expression:kidney 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:630 genetic disease ISO RGD:69157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18393292 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69157 D RGD:2289070|PMID:11470758 20080118 RGD protein:decreased expression:prostate gland 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9001341 Chloracne ISO RGD:69157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69157 D RGD:2289070|PMID:11470758 20080118 RGD protein:decreased expression:prostate gland 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2289078|PMID:9712737 20080118 RGD mRNA:increased expression:kidney 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9004922 Spinal Cord Ischemia IEP D RGD:2289074|PMID:14697320 20080118 RGD 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2289075|PMID:12909328 20080118 RGD mRNA:increased expression:heart 2225 Btg2 BTG anti-proliferation factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69157 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2226 Btg3 BTG anti-proliferation factor 3 gene DOID:10652 Alzheimer's disease ISO RGD:733952 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 2226 Btg3 BTG anti-proliferation factor 3 gene DOID:13580 cholestasis ISO RGD:733952 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 2226 Btg3 BTG anti-proliferation factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:733952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19221000 2226 Btg3 BTG anti-proliferation factor 3 gene DOID:630 genetic disease ISO RGD:733952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2226 Btg3 BTG anti-proliferation factor 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2226 Btg3 BTG anti-proliferation factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733952 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2228 Tspo translocator protein gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737564 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 2228 Tspo translocator protein gene DOID:0080600 COVID-19 ISO RGD:737564 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2228 Tspo translocator protein gene DOID:1059 intellectual disability ISO RGD:737564 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2228 Tspo translocator protein gene DOID:13413 hepatic encephalopathy ISO RGD:737564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 2228 Tspo translocator protein gene DOID:14502 cholesterol ester storage disease IMP D RGD:150429771|PMID:29074640 20211007 RGD 2228 Tspo translocator protein gene DOID:630 genetic disease ISO RGD:737564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2228 Tspo translocator protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2228 Tspo translocator protein gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:737564 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 2228 Tspo translocator protein gene DOID:9007996 End Stage Liver Disease ISO RGD:737564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 2229 C1qb complement C1q B chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 2229 C1qb complement C1q B chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 2229 C1qb complement C1q B chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 2229 C1qb complement C1q B chain gene DOID:0080600 COVID-19 ISO RGD:1346671 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2229 C1qb complement C1q B chain gene DOID:10652 Alzheimer's disease ISO RGD:1346671 D RGD:1599518|PMID:1362796 20070206 RGD mRNA:increased expression:microglial cell 2229 C1qb complement C1q B chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 2229 C1qb complement C1q B chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1346671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 2229 C1qb complement C1q B chain gene DOID:5082 liver cirrhosis ISO RGD:1346671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 2229 C1qb complement C1q B chain gene DOID:5119 ovarian cyst ISO RGD:1346671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 2229 C1qb complement C1q B chain gene DOID:612 primary immunodeficiency disease ISO RGD:1346671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2894352 2229 C1qb complement C1q B chain gene DOID:630 genetic disease ISO RGD:1346671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2229 C1qb complement C1q B chain gene DOID:9000039 Spinal Cord Injuries IEP D RGD:1599510|PMID:16345062 20070206 RGD mRNA:increased expression 2229 C1qb complement C1q B chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2229 C1qb complement C1q B chain gene DOID:9005908 Retrograde Degeneration IEP D RGD:1599508|PMID:16934480 20070206 RGD mRNA:increased expression 2229 C1qb complement C1q B chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 2229 C1qb complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:7240710 20230505 OMIM 2229 C1qb complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 2 PMID:24160257|PMID:2894352 2229 C1qb complement C1q B chain gene DOID:9007102 Myocardial Ischemia ISO RGD:1346671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2229 C1qb complement C1q B chain gene DOID:9007516 C1q Deficiency ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:17513176|PMID:21654842|PMID:25741868|PMID:28492532 2229 C1qb complement C1q B chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1346671 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 2229 C1qb complement C1q B chain gene DOID:9282 ocular hypertension IEP D RGD:1599509|PMID:16677633 20070206 RGD mRNA:increased expression:retina 2230 C1qbp complement C1q binding protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1342690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 2230 C1qbp complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:7240710 20190315 OMIM 2230 C1qbp complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 PMID:28492532|PMID:28942965|PMID:32652806|PMID:34003581 2230 C1qbp complement C1q binding protein gene DOID:630 genetic disease ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2230 C1qbp complement C1q binding protein gene DOID:9008939 Breast Neoplasms ISO RGD:1342690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 2231 C2 complement C2 gene DOID:0050553 JMP syndrome ISO RGD:1353499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2231 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:7240710 20141210 OMIM 2231 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: C2 deficiency, type II | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:1542325|PMID:1577763|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:31440263|PMID:31980526|PMID:32113979|PMID:33726816|PMID:34426522|PMID:34899688|PMID:6308626|PMID:8181962|PMID:8621452|PMID:9536098|PMID:9616367|PMID:9670930 2231 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2231 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9616367 2231 C2 complement C2 gene DOID:0080600 COVID-19 ISO RGD:1353499 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2231 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:7240710 20141210 OMIM 2231 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:32113979|PMID:34899688|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9670930 2231 C2 complement C2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2231 C2 complement C2 gene DOID:10223 dermatomyositis ISO RGD:1353499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3501473 2231 C2 complement C2 gene DOID:10652 Alzheimer's disease ISO RGD:1353499 D RGD:7401250|PMID:22300950 20131112 RGD DNA:SNP, haplotype: :p.E318D (rs9332739) (human) 2231 C2 complement C2 gene DOID:10754 otitis media ISO RGD:10255 D RGD:7411716|PMID:20065024 20131119 RGD associated with Pneumococcal Infections 2231 C2 complement C2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 2231 C2 complement C2 gene DOID:1407 anterior uveitis no_association ISO RGD:1353499 D RGD:7411695|PMID:22714898 20131118 RGD DNA:SNP: :rs3020644 (human) 2231 C2 complement C2 gene DOID:2772 irritant dermatitis ISO RGD:1353499 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 2231 C2 complement C2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1353499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 2231 C2 complement C2 gene DOID:4448 macular degeneration ISO RGD:1353499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16518403 2231 C2 complement C2 gene DOID:4448 macular degeneration ISO RGD:1353499 D RGD:7411692|PMID:17576744 20131118 RGD DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) 2231 C2 complement C2 gene DOID:4448 macular degeneration ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9616367 2231 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:7411691|PMID:23112567 20131118 RGD DNA:missense mutation:cds:p.E318D (rs9332739) (human) 2231 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:7411693|PMID:19169232 20131118 RGD DNA:missense mutation:cds:p.E318D (rs9332739) (human) 2231 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:7411731|PMID:22273503 20131119 RGD DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) 2231 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:1600582|PMID:16518403 20070316 RGD DNA:polymorphism 2231 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:7411694|PMID:22232432 20131118 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) 2231 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:7411713|PMID:18806293 20131119 RGD DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human) 2231 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:7411720|PMID:23233260 20131119 RGD DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human) 2231 C2 complement C2 gene DOID:557 kidney disease ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 2231 C2 complement C2 gene DOID:630 genetic disease ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2231 C2 complement C2 gene DOID:8893 psoriasis ISO RGD:1353499 D RGD:7411727|PMID:6559061 20131119 RGD DNA:polymorphism: :C2*2 (human) 2231 C2 complement C2 gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1353499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532 2231 C2 complement C2 gene DOID:9008163 Chronic Hepatitis B susceptibility IAGP D RGD:40886317|PMID:22610944 20201207 RGD DNA:SNP:exon: p.Glu318Asp (human) 2231 C2 complement C2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353499 D RGD:7411694|PMID:22232432 20131118 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) 2231 C2 complement C2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353499 D RGD:7421516|PMID:6409476 20131120 RGD 2232 C3 complement C3 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735504 D RGD:11040769|PMID:6915939 20160315 RGD protein:increased processing:erythrocyte 2232 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 2232 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:7175544|PMID:21888025 20121207 RGD protein:decreased expression:serum 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:10256 D RGD:7364995|PMID:17517971 20131112 RGD 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:11040768|PMID:20513133 20160315 RGD DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20301541|PMID:20595690|PMID:21125405|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:32950058|PMID:33213850 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32950058|PMID:33213850 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201 2232 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 2232 C3 complement C3 gene DOID:0080490 mucolipidosis type IV ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 2232 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:30310238|PMID:32434211 20200624 RGD protein:increased expression:serum (human) 2232 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNPs: :rs1047286,rs2230203,rs2230199(human) 2232 C3 complement C3 gene DOID:0080750 erythema nodosum ISO RGD:735504 D RGD:7421527|PMID:2783924 20131120 RGD associated with Leprosy 2232 C3 complement C3 gene DOID:0110019 age related macular degeneration 7 ISO RGD:735504 D RGD:7401252|PMID:19899988 20131112 RGD DNA:SNPs, haplotype: :multiple 2232 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2232 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO PMID:12462331|PMID:14639503|PMID:16687714|PMID:17576681|PMID:17634448|PMID:17767156|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19259132|PMID:19590060|PMID:1976733|PMID:20595690|PMID:20664795|PMID:21125405|PMID:21501302|PMID:21576320|PMID:22669319|PMID:22718507|PMID:23112567|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23455636|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25431709|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:27722136|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:31042289|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:7870343|PMID:9536098 2232 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 2232 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10256 D RGD:7175542|PMID:17960140 20121207 RGD mRNA, protein:increased expression, increased activity:kidney 2232 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735504 D RGD:7175542|PMID:17960140 20121207 RGD mRNA, protein:increased expression, increased activity:kidney 2232 C3 complement C3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:25741868|PMID:28492532 2232 C3 complement C3 gene DOID:10247 pleurisy ISO RGD:10256 D RGD:5129520|PMID:18256172 20110401 RGD protein:increased activity:pleural cavity 2232 C3 complement C3 gene DOID:10325 silicosis ISO RGD:735504 D RGD:5129516|PMID:12096683 20110401 RGD DNA:polymorphism (human) 2232 C3 complement C3 gene DOID:10591 pre-eclampsia treatment IDA D RGD:7411624|PMID:23685261 20131114 RGD 2232 C3 complement C3 gene DOID:10652 Alzheimer's disease ISO RGD:735504 D RGD:7401250|PMID:22300950 20131112 RGD DNA:SNP: :rs22300199 (human) 2232 C3 complement C3 gene DOID:10690 mastitis ISO RGD:10256 D RGD:7401278|PMID:8746955 20131112 RGD 2232 C3 complement C3 gene DOID:10754 otitis media ISO RGD:10256 D RGD:7401269|PMID:21502587 20131112 RGD associated with Pneumococcal Infections 2232 C3 complement C3 gene DOID:10763 hypertension IEP D RGD:11040890|PMID:22416803 20160316 RGD 2232 C3 complement C3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:735504 D RGD:7401249|PMID:22174912 20131112 RGD DNA:SNP: :rs2241394 (human) 2232 C3 complement C3 gene DOID:10887 lepromatous leprosy severity ISO RGD:735504 D RGD:7411735|PMID:6342123 20131119 RGD protein:decreased expression:serum 2232 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:11040773|PMID:7554454 20160315 RGD protein:increased processing 2232 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:11040777|PMID:3896597 20160315 RGD 2232 C3 complement C3 gene DOID:10976 membranous glomerulonephritis IDA D RGD:5129563|PMID:10729746 20110404 RGD 2232 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25954969 2232 C3 complement C3 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1353212 2232 C3 complement C3 gene DOID:11339 pneumocystosis IEP D RGD:5129525|PMID:17169032 20110401 RGD 2232 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:5129694|PMID:2784515 20110405 RGD protein:increased expression:plasma 2232 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:5130153|PMID:3826891 20110406 RGD protein:increased activation:respiratory system fluid/secretion 2232 C3 complement C3 gene DOID:11446 sciatic neuropathy IEP D RGD:5129535|PMID:18052971 20110401 RGD protein:increased expression:sciatic nerve 2232 C3 complement C3 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735504 D RGD:7401271|PMID:21139973 20131112 RGD protein:decreased expression:aqueous humour 2232 C3 complement C3 gene DOID:12134 factor VIII deficiency ISO RGD:735504 D RGD:11041156|PMID:6912882 20160322 RGD protein:increased expression:blood 2232 C3 complement C3 gene DOID:12306 vitiligo ISO RGD:10256 D RGD:7401277|PMID:12121667 20131112 RGD 2232 C3 complement C3 gene DOID:12894 Sjogren's syndrome ISO RGD:10256 D RGD:7401265|PMID:17675493 20131112 RGD 2232 C3 complement C3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 2232 C3 complement C3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:735504 D RGD:5129502|PMID:18069416 20110401 RGD protein:altered expression:lung 2232 C3 complement C3 gene DOID:1407 anterior uveitis IEP D RGD:1600478|PMID:16751365 20110404 RGD protein:increased expression:eye anterior chamber, ciliary body, iris 2232 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:735504 D RGD:7411736|PMID:6610667 20131119 RGD 2232 C3 complement C3 gene DOID:14095 boutonneuse fever ISO RGD:1350557|RGD:735504 D RGD:11041575|PMID:3361150 20160324 RGD protein:increased expression:serum 2232 C3 complement C3 gene DOID:1909 melanoma treatment ISO RGD:10256 D RGD:7401279|PMID:17146472 20131112 RGD 2232 C3 complement C3 gene DOID:224 transient cerebral ischemia ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 2232 C3 complement C3 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:7411628|PMID:22004711 20131114 RGD 2232 C3 complement C3 gene DOID:2316 brain ischemia IEP D RGD:5129543|PMID:14561876 20110404 RGD protein:increased expression:brain 2232 C3 complement C3 gene DOID:2452 thrombophilia treatment ISO RGD:10256 D RGD:11040779|PMID:15986360 20160315 RGD 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:5129517|PMID:11591733 20110401 RGD 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:5129681|PMID:20802484 20110405 RGD protein:increased expression:respiratory system fluid/secretion 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:5129501|PMID:18566738 20110401 RGD DNA:SNP:intron:rs11569562 (human) 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:5129505|PMID:16355111 20110401 RGD DNA:SNPs: :multiple (human) 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:5129512|PMID:15278436 20110401 RGD DNA:SNP: :4896C>T (human) 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:5129537|PMID:20402389 20110401 RGD 2232 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:5129538|PMID:20395963 20110401 RGD Interaction with IL4RA 2232 C3 complement C3 gene DOID:2841 asthma severity ISO RGD:735504 D RGD:5129519|PMID:20589464 20110401 RGD protein:increased expression:serum 2232 C3 complement C3 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735504 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 2232 C3 complement C3 gene DOID:2921 glomerulonephritis IDA D RGD:5129550|PMID:11950907 20110404 RGD 2232 C3 complement C3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735504 D RGD:5129500|PMID:19472039 20110401 RGD 2232 C3 complement C3 gene DOID:2986 IgA glomerulonephritis ISO RGD:735504 D RGD:7175543|PMID:11287758 20121207 RGD mRNA,protein:increased expression, increased activity:kidney 2232 C3 complement C3 gene DOID:3021 acute kidney failure ISO RGD:735504 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2232 C3 complement C3 gene DOID:3070 high grade glioma treatment ISO RGD:10256 D RGD:7401275|PMID:21678475 20131112 RGD 2232 C3 complement C3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735504 D RGD:5129504|PMID:17975205 20110401 RGD protein:increased expression:lung 2232 C3 complement C3 gene DOID:321 tropical spastic paraparesis ISO RGD:735504 D RGD:11040775|PMID:7561187 20160315 RGD protein:increased processing:plasma 2232 C3 complement C3 gene DOID:3310 atopic dermatitis ISO RGD:735504 D RGD:7401273|PMID:3923750 20131112 RGD protein:increased expression:plasma 2232 C3 complement C3 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:5130169|PMID:19050293 20110406 RGD 2232 C3 complement C3 gene DOID:3525 middle cerebral artery infarction IEP D RGD:7175514|PMID:22103620 20121205 RGD protein:increased expression:plasma 2232 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 2232 C3 complement C3 gene DOID:418 systemic scleroderma ISO RGD:735504 D RGD:7421518|PMID:2803327 20131120 RGD protein:increased expression:plasma 2232 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:10256 D RGD:7401268|PMID:23747511 20131112 RGD 2232 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17767156|PMID:24036949|PMID:24036950|PMID:24036952 2232 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:7411715|PMID:20157618 20131119 RGD DNA:missense mutation:cds:p.R102G (rs2230199) (human) 2232 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:7411723|PMID:18325906 20180828 RGD DNA:polymorphism: :p.R102G (human) 2232 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 2232 C3 complement C3 gene DOID:4483 rhinitis IEP D RGD:5129524|PMID:17345707 20110401 RGD mRNA:increased expression:nasal cavity epithelium 2232 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:735504 D RGD:5129539|PMID:20109314 20110401 RGD 2232 C3 complement C3 gene DOID:5162 arteriolosclerosis ISO RGD:735504 D RGD:7175516|PMID:22863782 20121205 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum: 2232 C3 complement C3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735504 D RGD:11040775|PMID:7561187 20160316 RGD 2232 C3 complement C3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:31042289 2232 C3 complement C3 gene DOID:552 pneumonia IDA D RGD:5129562|PMID:10886251 20110404 RGD 2232 C3 complement C3 gene DOID:557 kidney disease ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532|PMID:29888403 2232 C3 complement C3 gene DOID:5844 myocardial infarction IEP D RGD:1600605|PMID:16996480 20110401 RGD mRNA, protein:increased expression:myocardium 2232 C3 complement C3 gene DOID:589 congenital hemolytic anemia ISO RGD:735504 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 2232 C3 complement C3 gene DOID:612 primary immunodeficiency disease ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1350678 2232 C3 complement C3 gene DOID:6195 conjunctivitis ISO RGD:735504 D RGD:7421524|PMID:3875643 20131120 RGD protein:increased expression:tear 2232 C3 complement C3 gene DOID:630 genetic disease ISO RGD:735504 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 2232 C3 complement C3 gene DOID:684 hepatocellular carcinoma IEP D RGD:11040806|PMID:23245919 20160315 RGD 2232 C3 complement C3 gene DOID:7148 rheumatoid arthritis ISO RGD:735504 D RGD:11040775|PMID:7561187 20160316 RGD 2232 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2232 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive PMID:1350678|PMID:14639503|PMID:15781264|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20595690|PMID:21125405|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:4117597 2232 C3 complement C3 gene DOID:8354 complement component 3 deficiency susceptibility ISO RGD:735504 D RGD:7240710 20230505 OMIM 2232 C3 complement C3 gene DOID:8466 retinal degeneration IEP D RGD:7364947|PMID:21467172 20131112 RGD 2232 C3 complement C3 gene DOID:8466 retinal degeneration IEP D RGD:7401257|PMID:21571681 20131112 RGD mRNA:increased expression:retina 2232 C3 complement C3 gene DOID:850 lung disease ISO RGD:10256 D RGD:5129564|PMID:21421909 20110404 RGD Acute Lung Injury 2232 C3 complement C3 gene DOID:8566 herpes simplex ISO RGD:10256 D RGD:7401276|PMID:11509581 20131112 RGD 2232 C3 complement C3 gene DOID:8577 ulcerative colitis ISO RGD:735504 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2232 C3 complement C3 gene DOID:874 bacterial pneumonia ISO RGD:10256 D RGD:5129508|PMID:16014897 20110401 RGD 2232 C3 complement C3 gene DOID:9000326 Thrombotic Microangiopathies treatment IDA D RGD:5129554|PMID:11532096 20110404 RGD 2232 C3 complement C3 gene DOID:9000363 Hematuria ISO RGD:735504 D RGD:7183083|PMID:10955930 20121212 RGD protein:increased expression:renal arteriole: 2232 C3 complement C3 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:11040780|PMID:26518242 20160315 RGD 2232 C3 complement C3 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735504 D RGD:11040781|PMID:22007700 20160321 RGD 2232 C3 complement C3 gene DOID:9000998 Brain Injuries IEP D RGD:10054313|PMID:23808389 20160315 RGD 2232 C3 complement C3 gene DOID:9001488 Human Influenza ISO RGD:10256 D RGD:5129492|PMID:21408070 20110331 RGD 2232 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10256 D RGD:5129509|PMID:15972516 20110401 RGD 2232 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735504 D RGD:5130163|PMID:20405 20110406 RGD protein:decreased expression:serum 2232 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia disease_progression IEP D RGD:5129523|PMID:17956621 20110401 RGD associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion 2232 C3 complement C3 gene DOID:9002153 Chronic Allograft Dysfunction treatment IDA D RGD:11040803|PMID:25122638 20160315 RGD 2232 C3 complement C3 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:11040888|PMID:19854450 20160316 RGD 2232 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:11040807|PMID:25662584 20160315 RGD associated with Diabetes Mellitus, Type 2 2232 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10256 D RGD:7183082|PMID:19200691 20121212 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney: 2232 C3 complement C3 gene DOID:9002211 Hyperalgesia IEP D RGD:7401259|PMID:23588254 20131112 RGD associated with Sciatic Neuropathy;mRNA, protein:increased expression:spinal cord 2232 C3 complement C3 gene DOID:9002457 Experimental Arthritis ISO RGD:10256 D RGD:7411688|PMID:20051658 20131118 RGD 2232 C3 complement C3 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:11041098|PMID:7347767 20160321 RGD 2232 C3 complement C3 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:5129540|PMID:17114852 20110404 RGD 2232 C3 complement C3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:7175513|PMID:22320401 20121205 RGD protein:increased expression:cerebrospinal fluid 2232 C3 complement C3 gene DOID:9002834 Herpesviridae Infections ISO RGD:10256 D RGD:5129514|PMID:12196286 20110401 RGD 2232 C3 complement C3 gene DOID:9003565 Paratuberculosis ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 2232 C3 complement C3 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:10256 D RGD:7401280|PMID:16947020 20131112 RGD 2232 C3 complement C3 gene DOID:9004009 Reperfusion Injury IEP D RGD:5129536|PMID:17981193 20110401 RGD protein:increased expression:intestine 2232 C3 complement C3 gene DOID:9004484 Sepsis IEP D RGD:7411622|PMID:3339873 20131114 RGD protein:increased expression:liver 2232 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:10256 D RGD:11040886|PMID:24154627 20160316 RGD mRNA:increased expression:kidney 2232 C3 complement C3 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:11040808|PMID:22763771 20160315 RGD 2232 C3 complement C3 gene DOID:9005941 Rhinosinusitis ISO RGD:735504 D RGD:4889484|PMID:19593977 20131112 RGD protein:increased expression:serum 2232 C3 complement C3 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:735504 D RGD:11041158|PMID:9741227 20160323 RGD 2232 C3 complement C3 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:7411689|PMID:19691975 20131118 RGD 2232 C3 complement C3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10256 D RGD:7401262|PMID:16143328 20131112 RGD 2232 C3 complement C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735504 D RGD:2314030|PMID:16488421 20091030 RGD 2232 C3 complement C3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735504 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2232 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:10256 D RGD:5129513|PMID:12235218 20110401 RGD 2232 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis resistance ISO RGD:735504 D RGD:4142862|PMID:19258923 20110401 RGD 2232 C3 complement C3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 2232 C3 complement C3 gene DOID:9007692 Insulin Resistance ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18615583 2232 C3 complement C3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1582136|PMID:11560858 20110404 RGD protein:increased expression:myocardium 2232 C3 complement C3 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:5129542|PMID:14577867 20110404 RGD mRNA:increased expression:optic nerve 2232 C3 complement C3 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735504 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2232 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:11040804|PMID:147324 20160315 RGD 2232 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:10256 D RGD:7401263|PMID:17962462 20131112 RGD 2232 C3 complement C3 gene DOID:9008366 Meningococcal Infections severity ISO RGD:735504 D RGD:11041157|PMID:3491693 20160323 RGD 2232 C3 complement C3 gene DOID:9008604 Radiation Pneumonitis ISO RGD:735504 D RGD:5129484|PMID:20510197 20110330 RGD Protein: increased expression: plasma 2232 C3 complement C3 gene DOID:9008821 Otitis Media with Effusion disease_progression ISO RGD:735504 D RGD:7401253|PMID:11037838 20131112 RGD 2232 C3 complement C3 gene DOID:9065 leishmaniasis ISO RGD:10256 D RGD:7401274|PMID:15378355 20131112 RGD 2232 C3 complement C3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735504 D RGD:11040772|PMID:7510492 20160315 RGD protein:increased processing 2232 C3 complement C3 gene DOID:9182 pemphigus ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:74171 2232 C3 complement C3 gene DOID:9282 ocular hypertension IEP D RGD:1599509|PMID:16677633 20110404 RGD mRNA, protein:increased expression:retina 2232 C3 complement C3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20504758 2232 C3 complement C3 gene DOID:9408 acute myocardial infarction ISO RGD:735504 D RGD:11552746|PMID:26476955 20180504 RGD 2232 C3 complement C3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10256 D RGD:7401272|PMID:23549917 20131112 RGD 2232 C3 complement C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735504 D RGD:2314031|PMID:3253105 20091030 RGD 2232 C3 complement C3 gene DOID:9970 obesity treatment IDA D RGD:7411625|PMID:23118029 20131114 RGD 2235 C4bpa complement component 4 binding protein, alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 2235 C4bpa complement component 4 binding protein, alpha gene DOID:0080600 COVID-19 severity ISO RGD:736103 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNP: :rs61821041(human) 2235 C4bpa complement component 4 binding protein, alpha gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 2235 C4bpa complement component 4 binding protein, alpha gene DOID:12849 autistic disorder ISO RGD:736103 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2235 C4bpa complement component 4 binding protein, alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736103 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2235 C4bpa complement component 4 binding protein, alpha gene DOID:630 genetic disease ISO RGD:736103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2235 C4bpa complement component 4 binding protein, alpha gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2235 C4bpa complement component 4 binding protein, alpha gene DOID:9008604 Radiation Pneumonitis ISO RGD:736103 D RGD:5129484|PMID:20510197 20110330 RGD Protein: increased expression: plasma 2235 C4bpa complement component 4 binding protein, alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736103 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2236 C4bpb complement component 4 binding protein, beta gene DOID:0050589 inflammatory bowel disease ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 2236 C4bpb complement component 4 binding protein, beta gene DOID:0080600 COVID-19 severity ISO RGD:736875 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNP: :rs45574833(human) 2236 C4bpb complement component 4 binding protein, beta gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 2236 C4bpb complement component 4 binding protein, beta gene DOID:12849 autistic disorder ISO RGD:736875 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2236 C4bpb complement component 4 binding protein, beta gene DOID:1540 parathyroid carcinoma ISO RGD:736875 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2236 C4bpb complement component 4 binding protein, beta gene DOID:630 genetic disease ISO RGD:736875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2236 C4bpb complement component 4 binding protein, beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736875 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2236 C4bpb complement component 4 binding protein, beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736875 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2237 C5 complement C5 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735934 D RGD:7240710 20150701 OMIM 2237 C5 complement C5 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735934 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eculizumab, poor response to PMID:24521109|PMID:25741868|PMID:28492532 2237 C5 complement C5 gene DOID:0080600 COVID-19 ISO RGD:735934 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2237 C5 complement C5 gene DOID:0080600 COVID-19 severity ISO RGD:10261 D RGD:30310235|PMID:32417135 20200624 RGD protein:increased expression:plasma (human) 2237 C5 complement C5 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:10261 D RGD:5130168|PMID:11292607 20110406 RGD 2237 C5 complement C5 gene DOID:10283 prostate cancer ISO RGD:735934 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2237 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome IDA D RGD:1600658|PMID:10486240 20070322 RGD associated with Burns (epidermis) 2237 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735934 D RGD:5130150|PMID:3264125 20110406 RGD associated with Sepsis;protein:increased activation:plasma 2237 C5 complement C5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735934 D RGD:5130153|PMID:3826891 20110406 RGD protein:increased activation:respiratory system fluid/secretion 2237 C5 complement C5 gene DOID:12134 factor VIII deficiency ISO RGD:735934 D RGD:11041156|PMID:6912882 20160322 RGD protein:increased expression:blood 2237 C5 complement C5 gene DOID:1227 neutropenia IDA D RGD:1600665|PMID:10188960 20070322 RGD 2237 C5 complement C5 gene DOID:1227 neutropenia ISO RGD:735934 D RGD:5130180|PMID:10516626 20110407 RGD 2237 C5 complement C5 gene DOID:1485 cystic fibrosis severity ISO RGD:735934 D RGD:5130162|PMID:3540828 20110406 RGD 2237 C5 complement C5 gene DOID:2452 thrombophilia treatment ISO RGD:10261 D RGD:11040779|PMID:15986360 20160315 RGD 2237 C5 complement C5 gene DOID:2841 asthma IDA D RGD:1600651|PMID:11591795 20070322 RGD 2237 C5 complement C5 gene DOID:2841 asthma ISO RGD:10261 D RGD:5129681|PMID:20802484 20110405 RGD 2237 C5 complement C5 gene DOID:2841 asthma ISO RGD:10261 D RGD:5130158|PMID:10973279 20110406 RGD mRNA:decreased expression:lung 2237 C5 complement C5 gene DOID:2841 asthma ISO RGD:735934 D RGD:5129512|PMID:15278436 20110405 RGD 2237 C5 complement C5 gene DOID:2841 asthma severity ISO RGD:735934 D RGD:5129706|PMID:20143644 20110405 RGD 2237 C5 complement C5 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735934 D RGD:5129705|PMID:20500690 20110405 RGD protein:increased expression:sputum 2237 C5 complement C5 gene DOID:4724 brain edema IEP D RGD:1600655|PMID:11136932 20070322 RGD associated with Cerebral Hemorrhage 2237 C5 complement C5 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735934 D RGD:1600592|PMID:15995705 20070316 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs17611, rs2300929 (human) 2237 C5 complement C5 gene DOID:552 pneumonia ISO RGD:10261 D RGD:5129688|PMID:17079327 20110405 RGD associated with Respiratory Syncytial Virus Infections 2237 C5 complement C5 gene DOID:552 pneumonia ISO RGD:735934 D RGD:5130161|PMID:3631740 20110406 RGD 2237 C5 complement C5 gene DOID:612 primary immunodeficiency disease ISO RGD:735934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7730648 2237 C5 complement C5 gene DOID:630 genetic disease ISO RGD:735934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2237 C5 complement C5 gene DOID:8158 complement component 5 deficiency ISO RGD:735934 D RGD:7240710 20130221 OMIM 2237 C5 complement C5 gene DOID:8158 complement component 5 deficiency ISO RGD:735934 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement component 5 deficiency PMID:15778377|PMID:16199547|PMID:17576681|PMID:19414197|PMID:22668955|PMID:23371790|PMID:24033266|PMID:24521109|PMID:25534848|PMID:25741868|PMID:27026170|PMID:28492532|PMID:7730648|PMID:9536098 2237 C5 complement C5 gene DOID:8283 peritonitis ISO RGD:735934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19284563|PMID:19346296 2237 C5 complement C5 gene DOID:850 lung disease ISO RGD:10261 D RGD:5130154|PMID:3985125 20110406 RGD Acute Lung Injury 2237 C5 complement C5 gene DOID:850 lung disease ISO RGD:10261 D RGD:5130168|PMID:11292607 20110406 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing 2237 C5 complement C5 gene DOID:874 bacterial pneumonia ISO RGD:10261 D RGD:5129707|PMID:17975174 20110405 RGD 2237 C5 complement C5 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10261 D RGD:7411733|PMID:16849499 20131119 RGD 2237 C5 complement C5 gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:10261 D RGD:5130159|PMID:7814608 20110406 RGD 2237 C5 complement C5 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:11040807|PMID:25662584 20160315 RGD associated with Diabetes Mellitus, Type 2 2237 C5 complement C5 gene DOID:9002457 Experimental Arthritis IMP D RGD:1600637|PMID:12355496 20070321 RGD 2237 C5 complement C5 gene DOID:9002457 Experimental Arthritis ISO RGD:10261 D RGD:5130175|PMID:20975959 20110407 RGD 2237 C5 complement C5 gene DOID:9004009 Reperfusion Injury IDA D RGD:1600597|PMID:15158333 20070316 RGD 2237 C5 complement C5 gene DOID:9004484 Sepsis IDA D RGD:1600599|PMID:14688199 20070316 RGD 2237 C5 complement C5 gene DOID:9004484 Sepsis IEP D RGD:5130170|PMID:18648551 20110406 RGD protein:increased activation:plasma 2237 C5 complement C5 gene DOID:9005724 Fungal Lung Diseases ISO RGD:10261 D RGD:5130160|PMID:2612053 20110406 RGD 2237 C5 complement C5 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1600666|PMID:9631876 20070322 RGD 2237 C5 complement C5 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:7411626|PMID:23067403 20131114 RGD 2238 C6 complement C6 gene DOID:0060299 complement component 6 deficiency ISO RGD:1352972 D RGD:7240710 20130221 OMIM 2238 C6 complement C6 gene DOID:0060299 complement component 6 deficiency ISO RGD:1352972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:10632667|PMID:12653841|PMID:16199547|PMID:17257682|PMID:17576681|PMID:22288589|PMID:22668955|PMID:23537992|PMID:24033266|PMID:24378253|PMID:25741868|PMID:28368462|PMID:28492532|PMID:31440263|PMID:32860008|PMID:7535801|PMID:8512929|PMID:8690922|PMID:8871666|PMID:9472666|PMID:9536098|PMID:9856498 2238 C6 complement C6 gene DOID:0110245 cataract 38 ISO RGD:1352972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 38 PMID:10632667|PMID:12653841|PMID:17257682|PMID:22288589|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8512929|PMID:8690922|PMID:9472666|PMID:9856498 2238 C6 complement C6 gene DOID:182 calcinosis ISO RGD:1352972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2238 C6 complement C6 gene DOID:2921 glomerulonephritis IAGP D RGD:1600489|PMID:10807586 20070322 RGD 2238 C6 complement C6 gene DOID:4079 heart valve disease ISO RGD:1352972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2238 C6 complement C6 gene DOID:576 proteinuria IDA D RGD:1600682|PMID:2672823 20070322 RGD associated with Glomerulonephritis 2238 C6 complement C6 gene DOID:626 complement deficiency ISO RGD:1352972 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to a late component of complement deficiency PMID:10632667|PMID:12653841|PMID:17257682|PMID:22288589|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8512929|PMID:8690922|PMID:9472666|PMID:9856498 2238 C6 complement C6 gene DOID:630 genetic disease ISO RGD:1352972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2238 C6 complement C6 gene DOID:783 end stage renal disease severity IAGP D RGD:1600675|PMID:11912252 20070322 RGD 2238 C6 complement C6 gene DOID:9001285 Alcoholic Liver Diseases resistance IAGP D RGD:1600673|PMID:15351314 20070322 RGD 2238 C6 complement C6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity IAGP D RGD:625607|PMID:11970970 20070322 RGD 2238 C6 complement C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352972 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2238 C6 complement C6 gene DOID:9004484 Sepsis severity IAGP D RGD:1600672|PMID:15638131 20070322 RGD 2238 C6 complement C6 gene DOID:9006362 C6 Deficiency, Subtotal ISO RGD:1352972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: C6 deficiency, subtotal PMID:16199547|PMID:17257682|PMID:24378253|PMID:25741868|PMID:28492532|PMID:7535801|PMID:8871666 2238 C6 complement C6 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis susceptibility IAGP D RGD:1600670|PMID:17034580 20070322 RGD 2239 C8b complement C8 beta chain gene DOID:0060299 complement component 6 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 2239 C8b complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:7240710 20130221 OMIM 2239 C8b complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type II complement component 8 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31440263|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 2239 C8b complement C8 beta chain gene DOID:5844 myocardial infarction IEP D RGD:1600501|PMID:7515561 20070322 RGD 2239 C8b complement C8 beta chain gene DOID:612 primary immunodeficiency disease ISO RGD:1352674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 2239 C8b complement C8 beta chain gene DOID:630 genetic disease ISO RGD:1352674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2239 C8b complement C8 beta chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7980680 2239 C8b complement C8 beta chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1352674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 2239 C8b complement C8 beta chain gene DOID:9471 meningitis ISO RGD:1352674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 2240 Car2 carbonic anhydrase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737257 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 2240 Car2 carbonic anhydrase 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:737257 D RGD:155226860|PMID:27688658 20220916 RGD 2240 Car2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:7240710 20130221 OMIM 2240 Car2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:12566520|PMID:1301935|PMID:15300855|PMID:1542674|PMID:18060825|PMID:1928091|PMID:25741868|PMID:28492532|PMID:4624444|PMID:5041390|PMID:7627193|PMID:8127074|PMID:8128957|PMID:8834238 2240 Car2 carbonic anhydrase 2 gene DOID:11476 osteoporosis ISO RGD:737257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2240 Car2 carbonic anhydrase 2 gene DOID:13533 osteopetrosis susceptibility ISO RGD:737257 D RGD:1600698|PMID:1301935 20070323 RGD DNA:splice-site mutation 2240 Car2 carbonic anhydrase 2 gene DOID:299 adenocarcinoma ISO RGD:737257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2240 Car2 carbonic anhydrase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737257 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2240 Car2 carbonic anhydrase 2 gene DOID:3883 Lynch syndrome ISO RGD:737257 D RGD:155226867|PMID:17855694 20220916 RGD protein:decreased expression:colorectum 2240 Car2 carbonic anhydrase 2 gene DOID:630 genetic disease ISO RGD:737257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2240 Car2 carbonic anhydrase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2240 Car2 carbonic anhydrase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:737257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2240 Car2 carbonic anhydrase 2 gene DOID:9002315 Kidney Calculi IEP D RGD:1600710|PMID:10977795 20070323 RGD 2240 Car2 carbonic anhydrase 2 gene DOID:9006205 Animal Disease Models ISO RGD:732618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 2240 Car2 carbonic anhydrase 2 gene DOID:9446 cholangitis ISO RGD:732618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 2241 Car3 carbonic anhydrase 3 gene DOID:10316 pneumoconiosis ISO RGD:1353547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 2241 Car3 carbonic anhydrase 3 gene DOID:630 genetic disease ISO RGD:1353547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2241 Car3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2241 Car3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2241 Car3 carbonic anhydrase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1332219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2241 Car3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1332219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2241 Car3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353547 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2241 Car3 carbonic anhydrase 3 gene DOID:9452 fatty liver disease ISO RGD:1332219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2241 Car3 carbonic anhydrase 3 gene DOID:9970 obesity ISO RGD:1353547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2242 Car4 carbonic anhydrase 4 gene DOID:0050777 Joubert syndrome ISO RGD:1353429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 2242 Car4 carbonic anhydrase 4 gene DOID:0110404 retinitis pigmentosa 17 ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 17 PMID:15090652|PMID:15295099|PMID:15563508|PMID:17652713|PMID:19211803|PMID:20238024|PMID:20450258|PMID:20626030|PMID:25741868|PMID:28492532|PMID:33022222|PMID:7581389|PMID:9385361 2242 Car4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15090652|PMID:15295099|PMID:15563508|PMID:17576681|PMID:20238024|PMID:20626030|PMID:28492532|PMID:29343940|PMID:33022222|PMID:7581389|PMID:9385361|PMID:9536098 2242 Car4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1353429 D RGD:1600730|PMID:15090652 20070323 RGD 2242 Car4 carbonic anhydrase 4 gene DOID:11372 megacolon ISO RGD:1353429 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2242 Car4 carbonic anhydrase 4 gene DOID:630 genetic disease ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2242 Car4 carbonic anhydrase 4 gene DOID:8501 fundus dystrophy ISO RGD:1353429 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:30718709 2242 Car4 carbonic anhydrase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1332428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2243 Car5a carbonic anhydrase 5A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 2243 Car5a carbonic anhydrase 5A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1347153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 2243 Car5a carbonic anhydrase 5A gene DOID:630 genetic disease ISO RGD:1347153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2243 Car5a carbonic anhydrase 5A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2243 Car5a carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:7240710 20171011 OMIM 2243 Car5a carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:17576681|PMID:24530203|PMID:25640679|PMID:25741868|PMID:25834911|PMID:26913920|PMID:28492532|PMID:31641285|PMID:32381389|PMID:33473334|PMID:9536098 2243 Car5a carbonic anhydrase 5A gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1347153 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISS RGD:10265 D RGD:13592920 20180518 MouseDO 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050704 childhood electroclinical syndrome ISS RGD:10265 D RGD:13592920 20180518 MouseDO 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050753 cerebellar ataxia ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10371528|PMID:15173248|PMID:19486177|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27250579|PMID:27400454|PMID:28252636|PMID:28492532|PMID:31440721|PMID:31719132|PMID:35401678 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050753 cerebellar ataxia ISS RGD:10265 D RGD:13592920 20180518 MouseDO 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050835 generalized dystonia ISS RGD:10265 D RGD:13592920 20180518 MouseDO 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050858 Marshall-Smith syndrome ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050952 spastic ataxia ISO RGD:735950 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:7240710 20171101 OMIM 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 PMID:10371528|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11439943|PMID:11742003|PMID:12056940|PMID:12707077|PMID:14718690|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15985579|PMID:16306128|PMID:16325861|PMID:16787562|PMID:17142831|PMID:18056581|PMID:18354422|PMID:18434528|PMID:18437043|PMID:18597946|PMID:19344873|PMID:19486177|PMID:19624685|PMID:19811514|PMID:20097664|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:22249839|PMID:22527033|PMID:23407676|PMID:23831250|PMID:24486772|PMID:24498617|PMID:25326635|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25969684|PMID:26467025|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27250579|PMID:27400454|PMID:27959697|PMID:28007337|PMID:28252636|PMID:28444220|PMID:28492532|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29053796|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29444203|PMID:29482223|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30283815|PMID:31115040|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31719132|PMID:32170034|PMID:33425808|PMID:33737904|PMID:34102571|PMID:35401678|PMID:9345107 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11985388 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:1358446|PMID:14530926 19990101 RGD 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:7240710 20130221 OMIM 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21454563|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25274781|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25640679|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:28007337|PMID:28166811|PMID:28169007|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31139143|PMID:31288946|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32238909|PMID:32581362|PMID:33349592|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15743764|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16186543|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16583725|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18581134|PMID:18597946|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19242091|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24445160|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25640679|PMID:25716839|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25784583|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:27965395|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28927557|PMID:28978442|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29184170|PMID:29186148|PMID:29276004|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29883219|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30301590|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31164858|PMID:31288946|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:31810576|PMID:31915071|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32910250|PMID:33121221|PMID:33233562|PMID:33278787|PMID:33349592|PMID:33425808|PMID:34085110|PMID:34102571|PMID:34320921|PMID:34436362|PMID:34631621|PMID:35401678|PMID:35600082|PMID:35837781|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0060041 autism spectrum disorder ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0060178 familial hemiplegic migraine ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15743764|PMID:15795222|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18313928|PMID:18581134|PMID:19242091|PMID:19520699|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25716839|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27290639|PMID:28169007|PMID:28492532|PMID:28900389|PMID:29444203|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0060178 familial hemiplegic migraine ISS RGD:735950 D RGD:13592920 20180518 MouseDO OMIM:141500 | OMIM:300125 | OMIM:602481 | OMIM:607516 | OMIM:609634 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:7240710 20190315 OMIM 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:10024348|PMID:10371528|PMID:10408533|PMID:10455105|PMID:10987655|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12420090|PMID:12756131|PMID:14718690|PMID:15136697|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16508934|PMID:16787562|PMID:17576681|PMID:18313928|PMID:18354422|PMID:18437043|PMID:18581134|PMID:18597946|PMID:18606230|PMID:19486177|PMID:19520699|PMID:19811514|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20682717|PMID:20837964|PMID:21183743|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22969264|PMID:23831250|PMID:23934111|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24486772|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27290639|PMID:27476654|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:29056246|PMID:29100083|PMID:29186148|PMID:29486580|PMID:29915382|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31618753|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32860008|PMID:32901917|PMID:32910250|PMID:33278787|PMID:33349592|PMID:33425808|PMID:34102571|PMID:34531397|PMID:35600082|PMID:35837781|PMID:8898206|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11439943|PMID:18437043|PMID:19344873|PMID:25741868|PMID:28492532|PMID:29165669|PMID:30063100|PMID:32170034 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11985388|PMID:24849341 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:7240710 20160511 OMIM 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11061267|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11960817|PMID:11971066|PMID:12056940|PMID:12111613|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15032980|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18313928|PMID:18400034|PMID:18437043|PMID:18581134|PMID:19242091|PMID:19344873|PMID:19520699|PMID:19586927|PMID:19624685|PMID:20129625|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:23961289|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25716839|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:27290639|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28492532|PMID:28566750|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29444203|PMID:30063100|PMID:30283815|PMID:31468518|PMID:31487502|PMID:32170034|PMID:34436362|PMID:7537420|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111254 glutaric acidemia I ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:10054422|PMID:10408532 20150805 RGD DNA:mutation:cds:P.V1457L(human) 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1059 intellectual disability ISO RGD:735950 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:11832 visual epilepsy ISO RGD:10265 D RGD:10054423|PMID:9060410 20150805 RGD 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:12849 autistic disorder ISO RGD:735950 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:13641 exfoliation syndrome ISO RGD:735950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25706626 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy IAGP D RGD:1598976|PMID:17196942 20150806 RGD DNA:mutation:cds:752T>A (p.M251K)(rat) 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:735950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17196942 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1826 epilepsy ISO RGD:735950 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1923 disorder of sexual development ISO RGD:735950 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1969 cerebral palsy ISO RGD:735950 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735950 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:3328 temporal lobe epilepsy IEP D RGD:10054441|PMID:10448056 20150806 RGD 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:3413 alpha-mannosidosis ISO RGD:735950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:5077 subependymal giant cell astrocytoma ISO RGD:735950 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:630 genetic disease ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10734061|PMID:10987655|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12707077|PMID:12756131|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15710862|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16787562|PMID:16866717|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18354422|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18644040|PMID:18940563|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19811514|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:21703448|PMID:21734179|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22784462|PMID:22969264|PMID:23103419|PMID:23183922|PMID:23397224|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24108129|PMID:24270521|PMID:24486772|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:26467025|PMID:26716990|PMID:26795593|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27580036|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28455667|PMID:28492532|PMID:28566750|PMID:28742085|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29276004|PMID:29883219|PMID:29908077|PMID:29924869|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32170034|PMID:32910250|PMID:34102571|PMID:35401678|PMID:8898206|PMID:9329229|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:6364 migraine ISO RGD:735950 D RGD:10054426|PMID:24108129 20150805 RGD DNA:missense mutation:cds:p.E1015K(human) 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:6364 migraine ISO RGD:735950 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:681 progressive bulbar palsy ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbar palsy PMID:10371528|PMID:12420090|PMID:19486177|PMID:20129625|PMID:20396531|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27250579|PMID:28492532|PMID:28566750|PMID:32581362|PMID:33425808|PMID:35837781 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:8725 vascular dementia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9001793 Generalized Epilepsy ISO RGD:735950 D RGD:734669|PMID:11342703 19990101 RGD 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:10054421|PMID:10369863 20150805 RGD protein:altered expression:Purkinje cell: 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:10054466|PMID:8988170 20150807 RGD DNA:repeats:cds: 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11985388|PMID:16899342 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:735950 D RGD:1358570|PMID:10945665 19990101 RGD DNA:repeats:cds: 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735950 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:10265 D RGD:10054423|PMID:9060410 20150805 RGD 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:735950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17376154 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9005532 Muscle Weakness ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:26467025|PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9006534 Nervous System Malformations ISO RGD:735950 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23934111|PMID:25741868|PMID:27476654|PMID:28455667|PMID:28492532|PMID:29186148 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9007 sudden infant death syndrome ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9007552 Sporadic Hemiplegic Migraine ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10408534|PMID:10734061|PMID:11176968|PMID:11439943|PMID:12056940|PMID:12707077|PMID:17142831|PMID:18056581|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22527033|PMID:23407676|PMID:24486772|PMID:24498617|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:28492532|PMID:28900389|PMID:29444203 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9008086 Developmental Disabilities ISO RGD:735950 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16325861|PMID:16787562|PMID:18354422|PMID:20301674|PMID:24486772|PMID:25326635|PMID:25481746|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28742085|PMID:30011838 2244 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:963 episodic ataxia ISO RGD:735950 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25447171|PMID:25661095|PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050451 Brugada syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17224476|PMID:17576681|PMID:20817017|PMID:22385640|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:25974115|PMID:27231019|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30172029|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050700 cardiomyopathy ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence IEP D RGD:152985537|PMID:27905406 20220607 RGD mRNA, protein:increased expression:amygdala, hippocampus (rat) 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence IEP D RGD:152985539|PMID:25556199 20220607 RGD protein:increased expression:inferior colliculus (human) 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050793 short QT syndrome ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060041 autism spectrum disorder ISO RGD:10268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:1580173|PMID:15863612 20110713 RGD DNA:missense mutations:exon:p.G406R, p.G402S (human) 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:7240710 20130221 OMIM 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: Long qt syndrome 8 | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32145446|PMID:32161207|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:7240710 20130425 OMIM 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26230511|PMID:26383259|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29568937|PMID:29915097|PMID:30027834|PMID:30279520|PMID:30345660|PMID:31539150|PMID:31737537|PMID:32145446|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110644 long QT syndrome 1 ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25741868|PMID:25974115|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10485 esophageal atresia ISO RGD:10268 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:34163037 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10652 Alzheimer's disease ISO RGD:1550302 D RGD:13782264|PMID:23403102 20180830 RGD protein:decreased expression:brain 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10763 hypertension ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532|PMID:32145446 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:12849 autistic disorder ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:12930 dilated cardiomyopathy ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23677916|PMID:24033266|PMID:25184293|PMID:25741868|PMID:28492532|PMID:30027834 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1470 major depressive disorder ISO RGD:10268 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1612 breast cancer ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1826 epilepsy ISO RGD:10268 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:33818783|PMID:34163037 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1969 cerebral palsy ISO RGD:10268 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2030 anxiety disorder ISO RGD:10268 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2055 post-traumatic stress disorder ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:32332995 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3007 breast ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3008 invasive ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3312 bipolar disorder ISO RGD:10268 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100|PMID:32233023 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:397 restrictive cardiomyopathy ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:25633834|PMID:25741868|PMID:27662471|PMID:28492532|PMID:28750076 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:5419 schizophrenia ISO RGD:10268 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6000 congestive heart failure ISO RGD:10268 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6088 acute stress disorder ISO RGD:10268 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:612 primary immunodeficiency disease ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:630 genetic disease ISO RGD:10268 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10343407|PMID:23861362|PMID:25260352|PMID:25633834|PMID:25741868|PMID:27920829|PMID:28492532|PMID:34163037 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6420 pulmonary valve stenosis ISO RGD:10268 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24690944|PMID:25741868|PMID:26253506|PMID:27218670|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:10268 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000495 Tremor ISO RGD:10268 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Intention tremor 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9001366 Psychomotor Agitation ISO RGD:10268 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002231 Fetal Growth Retardation IEP D RGD:152985538|PMID:20873977 20220607 RGD protein:decreased expression:pancreas (rat) 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002775 Cognitive Dysfunction ISO RGD:10268 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17224476|PMID:17576681|PMID:20817017|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:25974115|PMID:27231019|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:9536098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9003163 Heart Block ISO RGD:10268 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25260352|PMID:25741868|PMID:34163037 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004730 Romano-Ward Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005077 Joint Instability ISO RGD:10268 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Joint laxity 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005141 Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25260352|PMID:25741868|PMID:28492532|PMID:28704380|PMID:31737537 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005466 Language Development Disorders ISO RGD:10268 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Expressive language delay 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9006294 Congenital Limb Deformities ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9006904 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES ISO RGD:10268 D RGD:7240710 20221214 OMIM 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9006904 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22840528|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27662471|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28750076|PMID:30513141|PMID:34163037 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007820 Sudden Death ISO RGD:10268 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007925 Sudden Cardiac Death ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:10268 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:10268 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9120 amyloidosis ISO RGD:10268 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 2245 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9993 hypoglycemia ISO RGD:10268 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0060239 Van der Woude syndrome ISO RGD:733702 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:733702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:25741868 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:7240710 20190315 OMIM 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:34702355|PMID:34906502|PMID:35937981 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:1059 intellectual disability ISO RGD:733702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:1540 parathyroid carcinoma ISO RGD:733702 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:4195 hyperglycemia ISO RGD:733703 D RGD:734670|PMID:11735114 19990101 RGD 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:630 genetic disease ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:9006462 Coma ISO RGD:733702 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Episodic coma PMID:28492532 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733702 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 2246 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733702 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:28166811|PMID:28492532|PMID:9536098 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25640679|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050793 short QT syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050834 CHARGE syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0060319 cardiac arrest ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20817017|PMID:21383000|PMID:22840528|PMID:25527503|PMID:25741868|PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:10763 hypertension ISO RGD:731942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:1826 epilepsy ISO RGD:731942 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:2843 long QT syndrome ISO RGD:731942 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:3459 breast carcinoma ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731942 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:5419 schizophrenia ISO RGD:731942 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:630 genetic disease ISO RGD:731942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000641 Pain ISO RGD:731942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17088553 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002211 Hyperalgesia ISO RGD:731942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11245671|PMID:17881535|PMID:24133248 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731942 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005910 Developmental and Epileptic Encephalopathy 110 ISO RGD:731942 D RGD:7240710 20221214 OMIM 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005910 Developmental and Epileptic Encephalopathy 110 ISO RGD:731942 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 110 PMID:35293990 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005968 Neuralgia ISO RGD:731942 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:17442347|PMID:18400411|PMID:19339603|PMID:24133248 2247 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 2248 Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:5119 ovarian cyst ISO RGD:735859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 2248 Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:630 genetic disease ISO RGD:735859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2248 Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:9003740 Nerve Injuries IEP D RGD:13514092|PMID:22187436 20180328 RGD mRNA,protein:increased expression:dorsal root ganglion: 2249 Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:630 genetic disease ISO RGD:732630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2249 Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:8545 malignant hyperthermia ISO RGD:732630 D RGD:734675|PMID:8395940 19990101 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735912 D RGD:151347411|PMID:30119248 20220119 RGD mRNA:increased expression:lung (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis treatment IMP D RGD:151347411|PMID:30119248 20220119 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050553 JMP syndrome ISO RGD:735912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735912 D RGD:151347620|PMID:31253192 20220128 RGD mRNA, protein:increased expression:mouth (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10271 D RGD:150519888|PMID:28863860 20220121 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:11372 megacolon ISO RGD:735912 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis disease_progression ISO RGD:10271 D RGD:151347691|PMID:33173221 20220201 RGD mRNA:increased expression:liver (mouse) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:735912 D RGD:151347691|PMID:33173221 20220201 RGD mRNA:increased expression:liver (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:735912 D RGD:151347691|PMID:33173221 20220201 RGD mRNA:increased expression:liver (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:735912 D RGD:151347435|PMID:31578591 20220124 RGD mRNA, protein:increased expression:breast cancer tissue (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:10271 D RGD:151347425|PMID:31310125 20220120 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer severity ISO RGD:735912 D RGD:151347541|PMID:28743276 20220126 RGD mRNA:increased expression:ovary (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:735912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3070 high grade glioma severity ISO RGD:735912 D RGD:151347531|PMID:16652150 20220126 RGD mRNA, protein:increased expression:brain (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:735912 D RGD:151347601|PMID:29039472 20220127 RGD human cells in mouse model 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma severity ISO RGD:735912 D RGD:151347601|PMID:29039472 20220127 RGD protein:increased expression:bone (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:10271 D RGD:151347599|PMID:29483153 20220127 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:735912 D RGD:151347448|PMID:21499918 20220125 RGD DDR1 acts with Syk 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735912 D RGD:150429714|PMID:17299390 20210921 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:735912 D RGD:151347528|PMID:31018949 20220126 RGD mRNA, protein:decreased expression:kidney (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:735912 D RGD:151347863|PMID:27020590 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20090212 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:735912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:10271 D RGD:151347691|PMID:33173221 20220201 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735912 D RGD:151347691|PMID:33173221 20220201 RGD mRNA:increased expression:liver (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma severity ISO RGD:735912 D RGD:151347864|PMID:31271515 20220204 RGD protein:increased expression:skin lesion (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma treatment ISO RGD:735912 D RGD:151347864|PMID:31271515 20220204 RGD human cells in mouse model; DDR1-IN-1 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735912 D RGD:151347620|PMID:31253192 20220128 RGD mRNA, protein:increased expression:mouth (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:735912 D RGD:151347863|PMID:27020590 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:151347541|PMID:28743276 20220126 RGD mRNA:increased expression:ovary (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:151347601|PMID:29039472 20220127 RGD protein:increased expression:bone (human) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:735912 D RGD:11520844|PMID:26719540 20220128 RGD human cancer cells in mouse model 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10271 D RGD:151347446|PMID:29298894 20220125 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10271 D RGD:151347540|PMID:31383731 20220126 RGD protein:increased expression:kidney (mouse) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:151347537|PMID:33110221 20220126 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:151347840|PMID:30666650 20220202 RGD mRNA:increased expression:liver (mouse) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735912 D RGD:151347685|PMID:29438985 20220201 RGD human cells in mouse model; nilotinib 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:10271 D RGD:151347874|PMID:32360427 20220207 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9009121 lung metastasis ISO RGD:10271 D RGD:151347599|PMID:29483153 20220127 RGD 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:10271 D RGD:151347840|PMID:30666650 20220202 RGD mRNA:increased expression:colon (mouse) 2252 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:735912 D RGD:151347685|PMID:29438985 20220201 RGD protein:increased expression, increased phosphorylation:tumor cells (human) 2253 S100g S100 calcium binding protein G gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344914 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2253 S100g S100 calcium binding protein G gene DOID:12849 autistic disorder ISO RGD:1344914 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2253 S100g S100 calcium binding protein G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344914 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2254 Calca calcitonin-related polypeptide alpha gene DOID:0080600 COVID-19 disease_progression ISO RGD:730992 D RGD:30296681|PMID:32345579 20200616 RGD associated with diabetes mellitus 2254 Calca calcitonin-related polypeptide alpha gene DOID:0080600 COVID-19 severity ISO RGD:730992 D RGD:30296673|PMID:32198776 20200616 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:0080600 COVID-19 severity ISO RGD:730992 D RGD:30296674|PMID:32220650 20200616 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:0080998 acute necrotizing pancreatitis resistance IDA D RGD:5684345|PMID:19684430 20111214 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:1059 intellectual disability ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 2254 Calca calcitonin-related polypeptide alpha gene DOID:1059 intellectual disability ISO RGD:730992 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2254 Calca calcitonin-related polypeptide alpha gene DOID:10763 hypertension ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1849535|PMID:9887042 2254 Calca calcitonin-related polypeptide alpha gene DOID:11400 pyelonephritis ISO RGD:730992 D RGD:7205498|PMID:15286264 20130108 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:11446 sciatic neuropathy ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19852068 2254 Calca calcitonin-related polypeptide alpha gene DOID:11476 osteoporosis ISO RGD:730992 D RGD:734677|PMID:2502220 19990101 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:11716 prediabetes syndrome IEP D RGD:2314033|PMID:19152794 20091030 RGD protein:increased expression:penis erectile tissue 2254 Calca calcitonin-related polypeptide alpha gene DOID:12098 trigeminal neuralgia ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2254 Calca calcitonin-related polypeptide alpha gene DOID:12678 hypercalcemia ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1115441|PMID:12637657 2254 Calca calcitonin-related polypeptide alpha gene DOID:12783 migraine without aura ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11304026|PMID:14659530 2254 Calca calcitonin-related polypeptide alpha gene DOID:12849 autistic disorder ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 2254 Calca calcitonin-related polypeptide alpha gene DOID:14250 Down syndrome ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 2254 Calca calcitonin-related polypeptide alpha gene DOID:326 ischemia IMP D RGD:5684019|PMID:21181115 20111213 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10274 D RGD:5684010|PMID:21964254 20111213 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:3770 pulmonary fibrosis ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17365031 2254 Calca calcitonin-related polypeptide alpha gene DOID:630 genetic disease ISO RGD:730992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2254 Calca calcitonin-related polypeptide alpha gene DOID:6364 migraine ISO RGD:730992 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:12574409|PMID:17635592|PMID:35115687 2254 Calca calcitonin-related polypeptide alpha gene DOID:6364 migraine ISO RGD:730992 D RGD:5684020|PMID:20959432 20111213 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:6364 migraine no_association ISO RGD:730992 D RGD:5684017|PMID:21195698 20111213 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:6432 pulmonary hypertension ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1357980 2254 Calca calcitonin-related polypeptide alpha gene DOID:76 stomach disease IDA D RGD:5684343|PMID:19900492 20111214 RGD Cerebrovascular dysfunction (stroke) associated gastrointestinal injury model 2254 Calca calcitonin-related polypeptide alpha gene DOID:820 myocarditis ISO RGD:10274 D RGD:7204487|PMID:15583078 20121219 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:8398 osteoarthritis ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16690336 2254 Calca calcitonin-related polypeptide alpha gene DOID:9000070 Progressive Renal Failure with Hypertension ISO RGD:10274 D RGD:7204486|PMID:15928032 20121219 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:9000197 Edema ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 2254 Calca calcitonin-related polypeptide alpha gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:16777450 2254 Calca calcitonin-related polypeptide alpha gene DOID:9001579 Neurogenic Inflammation ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961222 2254 Calca calcitonin-related polypeptide alpha gene DOID:9001600 Wounds and Injuries ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18430544 2254 Calca calcitonin-related polypeptide alpha gene DOID:9002211 Hyperalgesia IEP D RGD:8657122|PMID:21958434 20140603 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: 2254 Calca calcitonin-related polypeptide alpha gene DOID:9002211 Hyperalgesia ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12787826|PMID:12855330|PMID:15265675|PMID:27093858 2254 Calca calcitonin-related polypeptide alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16222118 2254 Calca calcitonin-related polypeptide alpha gene DOID:9002362 Hyperkinesis ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6293644|PMID:6686863 2254 Calca calcitonin-related polypeptide alpha gene DOID:9002457 Experimental Arthritis ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16690336 2254 Calca calcitonin-related polypeptide alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RGD:10274 D RGD:5684360|PMID:19563774 20111216 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:9003805 Catalepsy ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6293644|PMID:6303368|PMID:6686863 2254 Calca calcitonin-related polypeptide alpha gene DOID:9003870 Herpes Simplex Encephalitis treatment IDA D RGD:7240516|PMID:22761571 20191030 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:9005372 Inflammation IEP D RGD:8657122|PMID:21958434 20140603 RGD protein:increased expression:hindpaw: 2254 Calca calcitonin-related polypeptide alpha gene DOID:9005372 Inflammation ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 2254 Calca calcitonin-related polypeptide alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314033|PMID:19152794 20091030 RGD protein:increased expression:penis erectile tissue, seminal vesicle 2254 Calca calcitonin-related polypeptide alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314035|PMID:17151309 20091030 RGD protein:decreased expression:dorsal root ganglion, neuron 2254 Calca calcitonin-related polypeptide alpha gene DOID:9006205 Animal Disease Models ISO RGD:730992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2254 Calca calcitonin-related polypeptide alpha gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:7204479|PMID:19194162 20121219 RGD 2254 Calca calcitonin-related polypeptide alpha gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2314035|PMID:17151309 20091030 RGD protein:decreased expression:dorsal root ganglion, neuron 2254 Calca calcitonin-related polypeptide alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:10274 D RGD:2314032|PMID:19816194 20091030 RGD 2255 Calcrl calcitonin receptor like receptor gene DOID:0080600 COVID-19 ISO RGD:733108 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2255 Calcrl calcitonin receptor like receptor gene DOID:3042 allergic contact dermatitis ISO RGD:733108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 2255 Calcrl calcitonin receptor like receptor gene DOID:630 genetic disease ISO RGD:733108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2255 Calcrl calcitonin receptor like receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733108 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2255 Calcrl calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:7240710 20200226 OMIM 2255 Calcrl calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 8 PMID:25741868 2256 Cald1 caldesmon 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730856 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2256 Cald1 caldesmon 1 gene DOID:630 genetic disease ISO RGD:730856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2256 Cald1 caldesmon 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730856 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2256 Cald1 caldesmon 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730856 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 2256 Cald1 caldesmon 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8921357 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 2256 Cald1 caldesmon 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314036|PMID:10644879 20091030 RGD 2257 Calm1 calmodulin 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735369 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2257 Calm1 calmodulin 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 2257 Calm1 calmodulin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 2257 Calm1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:7240710 20160706 OMIM 2257 Calm1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4 PMID:11569915|PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:27374306|PMID:27927985|PMID:28158429|PMID:28492532 2257 Calm1 calmodulin 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:735369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 2257 Calm1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:7240710 20170503 OMIM 2257 Calm1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 14 PMID:23040497|PMID:23388215|PMID:24076290|PMID:24563457|PMID:24816216|PMID:25036739|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:28158429|PMID:28492532|PMID:31454269 2257 Calm1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11470324 2257 Calm1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:13792493|PMID:11470324 20180911 RGD protein:decreased expression:cerebellar cortex: 2257 Calm1 calmodulin 1 gene DOID:5062 phencyclidine abuse ISO RGD:735369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2257 Calm1 calmodulin 1 gene DOID:9004657 Weight Gain ISO RGD:735369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2257 Calm1 calmodulin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2257 Calm1 calmodulin 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 2257 Calm1 calmodulin 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:6892953|PMID:21216827 20120821 RGD mRNA:decreased expression:heart 2257 Calm1 calmodulin 1 gene DOID:9505 cannabis abuse ISO RGD:735369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2258 Calm2 calmodulin 2 gene DOID:0080600 COVID-19 ISO RGD:736342 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 2258 Calm2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23388215|PMID:24917665|PMID:25741868|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:28335032|PMID:28492532|PMID:31283864 2258 Calm2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26969752|PMID:27516456|PMID:27765793|PMID:28492532|PMID:9536098 2258 Calm2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:30354306|PMID:31283864|PMID:32383558|PMID:9536098 2258 Calm2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:7240710 20180321 OMIM 2258 Calm2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 15 PMID:11569915|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:31283864|PMID:32383558 2258 Calm2 calmodulin 2 gene DOID:14671 multiple intestinal atresia ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 2258 Calm2 calmodulin 2 gene DOID:1470 major depressive disorder ISO RGD:736342 D RGD:6892958|PMID:22885997 20120821 RGD mRNA:decreased expression:frontal association cortex 2258 Calm2 calmodulin 2 gene DOID:2843 long QT syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30354306|PMID:31283864|PMID:9536098 2258 Calm2 calmodulin 2 gene DOID:3883 Lynch syndrome ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 2258 Calm2 calmodulin 2 gene DOID:5062 phencyclidine abuse ISO RGD:736342 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2258 Calm2 calmodulin 2 gene DOID:630 genetic disease ISO RGD:736342 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2258 Calm2 calmodulin 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736342 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2258 Calm2 calmodulin 2 gene DOID:9007 sudden infant death syndrome ISO RGD:736342 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME 2258 Calm2 calmodulin 2 gene DOID:9505 cannabis abuse ISO RGD:736342 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2259 Calm3 calmodulin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:737387 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 2259 Calm3 calmodulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy susceptibility ISO RGD:737387 D RGD:13792494|PMID:19429631 20180911 RGD DNA:polymorphism:promoter:¿¿¿34T>A(human) 2259 Calm3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:17576681|PMID:28492532|PMID:9536098 2259 Calm3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 2259 Calm3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11569915|PMID:17576681|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25460178|PMID:25741868|PMID:26969752|PMID:27516456|PMID:28491681|PMID:28492532|PMID:31454269|PMID:9536098 2259 Calm3 calmodulin 3 gene DOID:9007211 Long QT Syndrome 16 ISO RGD:737387 D RGD:7240710 20200226 OMIM 2259 Calm3 calmodulin 3 gene DOID:9007211 Long QT Syndrome 16 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 16 PMID:17576681|PMID:25460178|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0060041 autism spectrum disorder ISS RGD:10284 D RGD:13592920 20190808 MouseDO 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:7240710 20190315 OMIM 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID:25363768|PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:7240710 20190315 OMIM 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID:25741868|PMID:29784083 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:1059 intellectual disability ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25363768|PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:10652 Alzheimer's disease ISO RGD:736752 D RGD:13681926|PMID:15621017 20180712 RGD 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:14764 Larsen syndrome ISO RGD:736752 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:25741868 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia IEP D RGD:7241547|PMID:12951199 20180712 RGD protein:increased expression:hippocampus 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:10284 D RGD:13681927|PMID:12199152 20180712 RGD 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:3070 high grade glioma disease_progression ISO RGD:736752 D RGD:13702478|PMID:29393370 20180718 RGD 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:3312 bipolar disorder ISS RGD:10284 D RGD:13592920 20180802 MouseDO 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:3525 middle cerebral artery infarction IEP D RGD:1358416|PMID:14688616 20180712 RGD 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:630 genetic disease ISO RGD:736752 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:736752 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:893 Wilson disease ISO RGD:736752 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia IMP D RGD:7240711|PMID:18042863 20181008 RGD 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:736752 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20053885 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment IEP D RGD:9685025|PMID:23558232 20141215 RGD 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9005369 Hepatomegaly ISO RGD:736752 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9005372 Inflammation IEP D RGD:9685027|PMID:12176168 20141215 RGD protein:increased expression:axon 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736752 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14725635 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2261 Camk2a calcium/calmodulin-dependent protein kinase II alpha gene DOID:9008086 Developmental Disabilities ISO RGD:736752 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741872 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:7240710 20190315 OMIM 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 PMID:25741868|PMID:28492532|PMID:29100089|PMID:29560374|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:10907 microcephaly ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:3070 high grade glioma disease_progression ISO RGD:10285 D RGD:13702479|PMID:15750623 20180718 RGD 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:3181 oligodendroglioma disease_progression ISO RGD:10285 D RGD:13702479|PMID:15750623 20180718 RGD 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735326 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:5062 phencyclidine abuse ISO RGD:735326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:735326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11042361|PMID:20336626 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:543 dystonia ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:630 genetic disease ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:8646 substance-induced psychosis ISO RGD:735326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603807 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735326 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment IEP D RGD:9685025|PMID:23558232 20141215 RGD 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9004992 Apnea ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9006534 Nervous System Malformations ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9006680 Hyperventilation ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperventilation PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9008086 Developmental Disabilities ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9008582 Developmental Disease ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 2262 Camk2b calcium/calmodulin-dependent protein kinase II beta gene DOID:9505 cannabis abuse ISO RGD:735326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:0060224 atrial fibrillation ISO RGD:736174 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:11612 polycystic ovary syndrome ISO RGD:736174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:12271 aniridia ISO RGD:736174 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:1826 epilepsy IAGP D RGD:6907065|PMID:20638246 20121024 RGD DNA:SNP:intron:g.24024428G>T (rat) 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:630 genetic disease ISO RGD:736174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736174 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 2263 Camk2d calcium/calmodulin-dependent protein kinase II delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:1059 intellectual disability ISO RGD:731356 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30262571 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:12336 male infertility ISO RGD:735406 D RGD:734683|PMID:10932193 19990101 RGD 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:630 genetic disease ISO RGD:731356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731356 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19001277 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 2264 Camk4 calcium/calmodulin-dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2266 Canx calnexin gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:737068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 2266 Canx calnexin gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:737068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2266 Canx calnexin gene DOID:0112103 Sotos syndrome 1 ISO RGD:737068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2266 Canx calnexin gene DOID:630 genetic disease ISO RGD:737068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2266 Canx calnexin gene DOID:9007102 Myocardial Ischemia ISO RGD:737068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2266 Canx calnexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737068 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2266 Canx calnexin gene DOID:9970 obesity ISO RGD:737068 D RGD:2314284|PMID:18567819 20091109 RGD protein:increased expression:subcutaneous adipose tissue 2267 Capn1 calpain 1 gene DOID:0081292 traumatic brain injury IEP D RGD:13792664|PMID:9469158 20180919 RGD protein:increased expression:cytosol, plasma membrane 2267 Capn1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:7240710 20190315 OMIM 2267 Capn1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 PMID:17576681|PMID:25741868|PMID:27153400|PMID:27320912|PMID:28492532|PMID:28566166|PMID:29379883|PMID:30198554|PMID:32214227|PMID:32860008|PMID:33486633|PMID:9536098 2267 Capn1 calpain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2267 Capn1 calpain 1 gene DOID:10230 aortic atherosclerosis IEP D RGD:13792498|PMID:23006733 20180911 RGD protein:increased activity:aorta 2267 Capn1 calpain 1 gene DOID:1059 intellectual disability ISO RGD:736980 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2267 Capn1 calpain 1 gene DOID:10652 Alzheimer's disease ISO RGD:736980 D RGD:13792663|PMID:11231011 20180919 RGD protein:increased activity:brain: 2267 Capn1 calpain 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736980 D RGD:13792495|PMID:8622780 20180911 RGD 2267 Capn1 calpain 1 gene DOID:11446 sciatic neuropathy IEP D RGD:13792589|PMID:24745757 20180914 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior 2267 Capn1 calpain 1 gene DOID:1210 optic neuritis ISO RGD:736980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23860028 2267 Capn1 calpain 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736980 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19266085 2267 Capn1 calpain 1 gene DOID:1826 epilepsy treatment IEP D RGD:13792591|PMID:25924429 20180914 RGD 2267 Capn1 calpain 1 gene DOID:1909 melanoma ISO RGD:736980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 2267 Capn1 calpain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2267 Capn1 calpain 1 gene DOID:2746 glycogen storage disease V ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2267 Capn1 calpain 1 gene DOID:3021 acute kidney failure treatment IEP D RGD:13792553|PMID:24158126 20180912 RGD associated with Rhabdomyolysis; 2267 Capn1 calpain 1 gene DOID:3070 high grade glioma ISO RGD:736980 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 2267 Capn1 calpain 1 gene DOID:630 genetic disease ISO RGD:736980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2267 Capn1 calpain 1 gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:13792496|PMID:23102374 20180911 RGD 2267 Capn1 calpain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:12061939 D RGD:9068941 20210604 OMIA Ataxia, spinocerebellar, CAPN1-related PMID:15320590|PMID:2061870|PMID:22634896|PMID:22872628|PMID:23741357|PMID:24736825|PMID:24736826|PMID:27153400|PMID:27259058|PMID:27320912|PMID:30650096|PMID:4747697 2267 Capn1 calpain 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2267 Capn1 calpain 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2268 Capn2 calpain 2 gene DOID:0081292 traumatic brain injury IEP D RGD:13792664|PMID:9469158 20180919 RGD 2268 Capn2 calpain 2 gene DOID:10652 Alzheimer's disease ISO RGD:732800 D RGD:13792661|PMID:9654354 20180919 RGD protein:increased expression:cytosol 2268 Capn2 calpain 2 gene DOID:11446 sciatic neuropathy IEP D RGD:13792589|PMID:24745757 20180914 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior 2268 Capn2 calpain 2 gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:13792650|PMID:25820375 20180919 RGD protein:increased expression, activity:nucleus 2268 Capn2 calpain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732800 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2268 Capn2 calpain 2 gene DOID:1561 cognitive disorder ISO RGD:732800 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:31672664 2268 Capn2 calpain 2 gene DOID:630 genetic disease ISO RGD:732800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2268 Capn2 calpain 2 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:13792585|PMID:25150005 20180914 RGD 2268 Capn2 calpain 2 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13792585|PMID:25150005 20180914 RGD associated with Peripheral Nerve Injuries 2268 Capn2 calpain 2 gene DOID:9007659 Anthracycline-induced Cardiotoxicity treatment IEP D RGD:13792617|PMID:25634181 20180918 RGD 2268 Capn2 calpain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2268 Capn2 calpain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732800 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2269 Capn3 calpain 3 gene DOID:0050557 congenital muscular dystrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:0080000 muscular disease ISO RGD:731876 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10330340|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11297944|PMID:11371436|PMID:12461690|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16627476|PMID:16650086|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17562833|PMID:17702496|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19226146|PMID:19285864|PMID:19556129|PMID:19835634|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21984748|PMID:22378277|PMID:22443334|PMID:22926650|PMID:23169433|PMID:24033266|PMID:24715573|PMID:24803842|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25252031|PMID:25741868|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26810512|PMID:26886200|PMID:27023906|PMID:27055500|PMID:27066551|PMID:27066573|PMID:27142102|PMID:27431290|PMID:27447704|PMID:27558075|PMID:27708273|PMID:28403181|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31788660|PMID:31862442|PMID:31931849|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:3258171|PMID:32668095|PMID:32896923|PMID:33250842|PMID:33337384|PMID:34355366|PMID:34440373|PMID:34720847|PMID:35309930|PMID:7720071|PMID:9150160|PMID:9266733|PMID:9642272|PMID:9762961 2269 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:7240710 20130221 OMIM 2269 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20307669|PMID:20477750|PMID:205172126|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30538847|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33250842|PMID:33335567|PMID:33337384|PMID:34008892|PMID:34355366|PMID:34440373|PMID:34602496|PMID:34697879|PMID:34720847|PMID:35169782|PMID:35309930|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 2269 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:736171 D RGD:734687|PMID:10814721 19990101 RGD 2269 Capn3 calpain 3 gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:731876 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25741868|PMID:31263448 2269 Capn3 calpain 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11371436|PMID:15221789|PMID:16141003|PMID:18854869|PMID:19226146|PMID:20635405|PMID:25046369|PMID:25741868|PMID:26404900|PMID:26467025|PMID:28492532 2269 Capn3 calpain 3 gene DOID:2717 Bloom syndrome ISO RGD:731876 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2269 Capn3 calpain 3 gene DOID:318 progressive muscular atrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spinal muscular atrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:423 myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:630 genetic disease ISO RGD:731876 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35169782 2269 Capn3 calpain 3 gene DOID:6364 migraine ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:684 hepatocellular carcinoma IEP D RGD:1600777|PMID:10806331 20070327 RGD mRNA:decreased expression:skeletal muscle 2269 Capn3 calpain 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:9003242 Paresthesia ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy PMID:25741868|PMID:28492532 2269 Capn3 calpain 3 gene DOID:9005532 Muscle Weakness ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:7240710 20190911 OMIM 2269 Capn3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10102422|PMID:10330340|PMID:10679950|PMID:11371436|PMID:12461690|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16627476|PMID:16650086|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17526799|PMID:17576681|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19556129|PMID:19835634|PMID:20044116|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21984748|PMID:22006685|PMID:22378277|PMID:22443334|PMID:24033266|PMID:25079074|PMID:25135358|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26677118|PMID:26886200|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27818383|PMID:27884173|PMID:28492532|PMID:28602176|PMID:28881388|PMID:28914264|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31263448|PMID:31517061|PMID:31788660|PMID:31931849|PMID:32403337|PMID:32528171|PMID:3258171|PMID:32668095|PMID:34440373|PMID:34720847|PMID:7720071|PMID:8624690|PMID:9150160|PMID:9266733|PMID:9536098|PMID:9642272|PMID:9762961|PMID:9777948 2269 Capn3 calpain 3 gene DOID:9007114 Mobility Limitation ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:9256 colorectal cancer ISO RGD:731876 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:28492532 2269 Capn3 calpain 3 gene DOID:9884 muscular dystrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 2269 Capn3 calpain 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:731876 D RGD:1600769|PMID:9150160 20070327 RGD Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations 2270 Capns1 calpain, small subunit 1 gene DOID:0080600 COVID-19 ISO RGD:735486 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2270 Capns1 calpain, small subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:735486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 2270 Capns1 calpain, small subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2270 Capns1 calpain, small subunit 1 gene DOID:630 genetic disease ISO RGD:735486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2270 Capns1 calpain, small subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2271 Capza3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:1353508 D RGD:18899565|PMID:27114798 20200123 RGD mRNA:decreased expression:semen 2271 Capza3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:736848 D RGD:19165126|PMID:19341723 20200131 RGD DNA:missense mutation: :p.M44K (human) 2271 Capza3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1353508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2272 Cartpt CART prepropeptide gene DOID:2030 anxiety disorder ISO RGD:1605714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12600694 2272 Cartpt CART prepropeptide gene DOID:630 genetic disease ISO RGD:1605714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2272 Cartpt CART prepropeptide gene DOID:7998 hyperthyroidism ISO RGD:1605714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12395121 2272 Cartpt CART prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:1605714 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21167239 2272 Cartpt CART prepropeptide gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1605714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22823101 2272 Cartpt CART prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605714 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2272 Cartpt CART prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605714 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20886038 2272 Cartpt CART prepropeptide gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313632|PMID:16443761 20091006 RGD protein:increased expression:pancreatic B cell 2272 Cartpt CART prepropeptide gene DOID:9970 obesity ISO RGD:1605714 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2272 Cartpt CART prepropeptide gene DOID:9970 obesity ISO RGD:1605714 D RGD:1625192|PMID:11522684 20070529 RGD DNA:missense mutation:exon:729G>C, p.L34F (human) 2272 Cartpt CART prepropeptide gene DOID:9970 obesity ISO RGD:1605714 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Obesity PMID:11522684|PMID:15326462|PMID:25741868 2272 Cartpt CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:2313633|PMID:10805512 20091006 RGD DNA:polymorphism:3' utr (human) 2272 Cartpt CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:2313634|PMID:10574510 20091006 RGD DNA:deletion, substitution: :1457delA, 1475A>G (human) 2272 Cartpt CART prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:1605714 D RGD:7240710 20230505 OMIM 2273 Alx1 ALX homeobox 1 gene DOID:0060668 anencephaly ISO RGD:10288 D RGD:734689|PMID:8673125 19990101 RGD 2273 Alx1 ALX homeobox 1 gene DOID:0081044 frontonasal dysplasia ISO RGD:732877 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2273 Alx1 ALX homeobox 1 gene DOID:0081047 frontonasal dysplasia 3 ISO RGD:732877 D RGD:7240710 20130221 OMIM 2273 Alx1 ALX homeobox 1 gene DOID:0081047 frontonasal dysplasia 3 ISO RGD:732877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 3 PMID:20451171|PMID:24467814|PMID:27324866|PMID:28492532 2273 Alx1 ALX homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732877 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 2273 Alx1 ALX homeobox 1 gene DOID:630 genetic disease ISO RGD:732877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2273 Alx1 ALX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 2274 Casp1 caspase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2274 Casp1 caspase 1 gene DOID:10283 prostate cancer ISO RGD:735988 D RGD:2315884|PMID:11221855 20100114 RGD protein:decreased expression:prostate gland 2274 Casp1 caspase 1 gene DOID:1059 intellectual disability ISO RGD:735988 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2274 Casp1 caspase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735988 D RGD:13782269|PMID:12633148 20180830 RGD 2274 Casp1 caspase 1 gene DOID:11132 prostatic hypertrophy ISO RGD:735988 D RGD:2315883|PMID:16333955 20100114 RGD protein:decreased expression:prostate gland 2274 Casp1 caspase 1 gene DOID:11832 visual epilepsy IMP D RGD:2315919|PMID:16886979 20100115 RGD 2274 Casp1 caspase 1 gene DOID:1205 allergic disease ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2274 Casp1 caspase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:735988 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2274 Casp1 caspase 1 gene DOID:1824 status epilepticus ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18571097 2274 Casp1 caspase 1 gene DOID:2377 multiple sclerosis ISO RGD:735988 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 2274 Casp1 caspase 1 gene DOID:2841 asthma ISO RGD:735988 D RGD:5130192|PMID:12396474 20110407 RGD protein:increased expression:serum 2274 Casp1 caspase 1 gene DOID:3021 acute kidney failure IMP D RGD:2293624|PMID:16557226 20100115 RGD 2274 Casp1 caspase 1 gene DOID:4483 rhinitis ISO RGD:731729 D RGD:5130187|PMID:20974310 20110407 RGD 2274 Casp1 caspase 1 gene DOID:4483 rhinitis ISO RGD:735988 D RGD:5130192|PMID:12396474 20110407 RGD protein:increased expression:serum 2274 Casp1 caspase 1 gene DOID:552 pneumonia ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2274 Casp1 caspase 1 gene DOID:557 kidney disease ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 2274 Casp1 caspase 1 gene DOID:5844 myocardial infarction ameliorates IEP D RGD:242905187|PMID:33389498 20230327 RGD 2274 Casp1 caspase 1 gene DOID:5844 myocardial infarction severity ISO RGD:731729 D RGD:2315913|PMID:17303764 20100115 RGD 2274 Casp1 caspase 1 gene DOID:6000 congestive heart failure ISO RGD:731729|RGD:735988 D RGD:2315913|PMID:17303764 20100115 RGD protein:increased expression:heart left ventricle 2274 Casp1 caspase 1 gene DOID:630 genetic disease ISO RGD:735988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2274 Casp1 caspase 1 gene DOID:850 lung disease ISO RGD:731729 D RGD:4889574|PMID:19265174 20110407 RGD 2274 Casp1 caspase 1 gene DOID:850 lung disease ISO RGD:731729 D RGD:5130182|PMID:17278232 20110407 RGD Acute Lung Injury associated with Pancreatitis 2274 Casp1 caspase 1 gene DOID:8719 in situ carcinoma ISO RGD:735988 D RGD:2298754|PMID:17375183 20100114 RGD associated with Carcinoma, Lobular 2274 Casp1 caspase 1 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2315889|PMID:18367607 20100114 RGD protein:increased expression, increased activation:spinal cord 2274 Casp1 caspase 1 gene DOID:9000641 Pain IMP D RGD:2315887|PMID:19853379 20100114 RGD 2274 Casp1 caspase 1 gene DOID:9000998 Brain Injuries IEP D RGD:2315917|PMID:17188500 20100115 RGD mRNA, protein:increased expression:brain 2274 Casp1 caspase 1 gene DOID:9001488 Human Influenza ISO RGD:731729 D RGD:5130181|PMID:19362023 20110407 RGD 2274 Casp1 caspase 1 gene DOID:9001542 Albuminuria ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 2274 Casp1 caspase 1 gene DOID:9001547 Tibial Fractures IEP D RGD:2315887|PMID:19853379 20100114 RGD 2274 Casp1 caspase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2274 Casp1 caspase 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:735988 D RGD:2315913|PMID:17303764 20100115 RGD associated with Heart Failure, Congestive 2274 Casp1 caspase 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13782359|PMID:23046993 20180906 RGD 2274 Casp1 caspase 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:2315890|PMID:17845807 20100114 RGD 2274 Casp1 caspase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735988 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2274 Casp1 caspase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731729 D RGD:2315886|PMID:10557324 20100114 RGD 2274 Casp1 caspase 1 gene DOID:9005372 Inflammation ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 2274 Casp1 caspase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315888|PMID:18398369 20100114 RGD mRNA:increased expression:retina 2274 Casp1 caspase 1 gene DOID:9005930 Endotoxemia IMP D RGD:2315892|PMID:17384935 20100114 RGD 2274 Casp1 caspase 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:735988 D RGD:5130189|PMID:15196254 20110407 RGD 2274 Casp1 caspase 1 gene DOID:9007692 Insulin Resistance ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 2274 Casp1 caspase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 2274 Casp1 caspase 1 gene DOID:9007956 Febrile Seizures treatment IEP D RGD:25823138|PMID:30947016 20200430 RGD 2274 Casp1 caspase 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 2274 Casp1 caspase 1 gene DOID:9970 obesity ISO RGD:735988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 2275 Casp3 caspase 3 gene DOID:0060071 pre-malignant neoplasm treatment IDA D RGD:13792594|PMID:29588340 20180914 RGD associated with gastric adenocarcinoma 2275 Casp3 caspase 3 gene DOID:0060108 brain glioma treatment IDA D RGD:13792598|PMID:29324390 20180917 RGD 2275 Casp3 caspase 3 gene DOID:0060186 chemical colitis treatment ISO RGD:10289 D RGD:13782278|PMID:28740344 20180831 RGD 2275 Casp3 caspase 3 gene DOID:0080855 Parkinsonism treatment IDA D RGD:13503337|PMID:28881616 20180112 RGD 2275 Casp3 caspase 3 gene DOID:0080855 Parkinsonism treatment IEP D RGD:13503339|PMID:27016191 20180112 RGD 2275 Casp3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:10289 D RGD:13503338|PMID:28338241 20180112 RGD 2275 Casp3 caspase 3 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2293324|PMID:18288275 20080527 RGD 2275 Casp3 caspase 3 gene DOID:1002 endometritis treatment IEP D RGD:13782281|PMID:26920733 20180831 RGD 2275 Casp3 caspase 3 gene DOID:10283 prostate cancer ISO RGD:731002 D RGD:2293304|PMID:18253123 20080527 RGD 2275 Casp3 caspase 3 gene DOID:104 bacterial infectious disease ISO RGD:10289 D RGD:2311430|PMID:16443785 20090715 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2275 Casp3 caspase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:731002 D RGD:150520156|PMID:26432329 20211026 RGD human cells in mouse model 2275 Casp3 caspase 3 gene DOID:10534 stomach cancer treatment ISO RGD:731002 D RGD:127284846|PMID:29408335 20210610 RGD human cells in mouse model 2275 Casp3 caspase 3 gene DOID:10534 stomach cancer treatment ISO RGD:731002 D RGD:127284886|PMID:32106377 20210616 RGD human cells in mouse model 2275 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 2275 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:13782269|PMID:12633148 20180830 RGD 2275 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:734692|PMID:10319819 19990101 RGD 2275 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782186|PMID:29777699 20180827 RGD 2275 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782188|PMID:29587274 20180827 RGD 2275 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782291|PMID:29642617 20180904 RGD 2275 Casp3 caspase 3 gene DOID:10763 hypertension IEP D RGD:13782308|PMID:27929425 20180904 RGD 2275 Casp3 caspase 3 gene DOID:10763 hypertension treatment IDA D RGD:10053702|PMID:20065158 20150720 RGD 2275 Casp3 caspase 3 gene DOID:10808 gastric ulcer treatment IEP D RGD:13792597|PMID:29339218 20180917 RGD 2275 Casp3 caspase 3 gene DOID:10854 salivary gland disease ISO RGD:10289 D RGD:2311442|PMID:19356238 20090716 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell 2275 Casp3 caspase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731002 D RGD:2298949|PMID:17267327 20080804 RGD 2275 Casp3 caspase 3 gene DOID:11383 cryptorchidism IEP D RGD:13792609|PMID:29606031 20180917 RGD 2275 Casp3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 2275 Casp3 caspase 3 gene DOID:114 heart disease IEP D RGD:13782301|PMID:28825094 20180904 RGD associated with Multiple Trauma 2275 Casp3 caspase 3 gene DOID:11446 sciatic neuropathy IEP D RGD:13782273|PMID:29659443 20180831 RGD mRNA:increased expression:dorsal root ganglion 2275 Casp3 caspase 3 gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 2275 Casp3 caspase 3 gene DOID:11713 diabetic angiopathy ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 2275 Casp3 caspase 3 gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:2293330|PMID:18192848 20080527 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2275 Casp3 caspase 3 gene DOID:11996 spermatic cord torsion IEP D RGD:13782294|PMID:29250764 20180904 RGD 2275 Casp3 caspase 3 gene DOID:12858 Huntington's disease ISO RGD:731002 D RGD:10413886|PMID:15668790 20170918 RGD 2275 Casp3 caspase 3 gene DOID:12858 Huntington's disease treatment ISO RGD:10289 D RGD:13432082|PMID:10888929 20170918 RGD 2275 Casp3 caspase 3 gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 2275 Casp3 caspase 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:731002 D RGD:13503345|PMID:16505307 20180112 RGD 2275 Casp3 caspase 3 gene DOID:1612 breast cancer ISO RGD:731002 D RGD:13209143|PMID:23979166 20170830 RGD protein:decreased expression:breast 2275 Casp3 caspase 3 gene DOID:1612 breast cancer severity ISO RGD:731002 D RGD:2293092|PMID:18227733 20080509 RGD protein:decreased expression:breast 2275 Casp3 caspase 3 gene DOID:182 calcinosis ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2275 Casp3 caspase 3 gene DOID:1824 status epilepticus ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16679645|PMID:18571097 2275 Casp3 caspase 3 gene DOID:1824 status epilepticus treatment IEP D RGD:10054104|PMID:20214503 20150727 RGD 2275 Casp3 caspase 3 gene DOID:1875 impotence treatment IEP D RGD:10053666|PMID:21235725 20150717 RGD associated with Diabetes Mellitus, Experimental 2275 Casp3 caspase 3 gene DOID:1936 atherosclerosis treatment IEP D RGD:13792600|PMID:29213335 20180917 RGD associated with type 2 diabetes mellitus 2275 Casp3 caspase 3 gene DOID:219 colon cancer ISO RGD:731002 D RGD:13209143|PMID:23979166 20170830 RGD protein:decreased expression:colon 2275 Casp3 caspase 3 gene DOID:219 colon cancer disease_progression ISO RGD:731002 D RGD:13209142|PMID:17805550 20170830 RGD 2275 Casp3 caspase 3 gene DOID:224 transient cerebral ischemia IDA D RGD:10053706|PMID:21712070 20150720 RGD 2275 Casp3 caspase 3 gene DOID:2316 brain ischemia ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11756504|PMID:17901229 2275 Casp3 caspase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:731002 D RGD:2293093|PMID:18172282 20080527 RGD 2275 Casp3 caspase 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:731002 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 2275 Casp3 caspase 3 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13782303|PMID:28496315 20180904 RGD 2275 Casp3 caspase 3 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:2311466|PMID:16847061 20090717 RGD protein:increased activity:spinal cord 2275 Casp3 caspase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:731002 D RGD:2293309|PMID:12107344 20080527 RGD protein:increased expression:breast 2275 Casp3 caspase 3 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10053704|PMID:21891976 20150720 RGD 2275 Casp3 caspase 3 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10054501|PMID:23143152 20150810 RGD 2275 Casp3 caspase 3 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13782346|PMID:26868427 20180906 RGD 2275 Casp3 caspase 3 gene DOID:3602 toxic encephalopathy ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21972528 2275 Casp3 caspase 3 gene DOID:3669 intermittent claudication IDA D RGD:9586024|PMID:23658678 20150720 RGD 2275 Casp3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:13434908|PMID:20661084 20171004 RGD DNA:SNP: :77G>A (human) 2275 Casp3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:13434909|PMID:16231180 20171004 RGD mRNA:increased expression:lung 2275 Casp3 caspase 3 gene DOID:4079 heart valve disease ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2275 Casp3 caspase 3 gene DOID:4362 cervical cancer ISO RGD:731002 D RGD:2298948|PMID:18177927 20080804 RGD 2275 Casp3 caspase 3 gene DOID:4450 renal cell carcinoma ISO RGD:731002 D RGD:2293308|PMID:17513560 20080527 RGD 2275 Casp3 caspase 3 gene DOID:4989 pancreatitis IEP D RGD:2311467|PMID:16574987 20090717 RGD 2275 Casp3 caspase 3 gene DOID:5082 liver cirrhosis ISO RGD:10289 D RGD:13782297|PMID:29105510 20180904 RGD associated with cholestasis 2275 Casp3 caspase 3 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782341|PMID:29781318 20180905 RGD 2275 Casp3 caspase 3 gene DOID:5295 intestinal disease IEP D RGD:10058972|PMID:24228095 20150811 RGD 2275 Casp3 caspase 3 gene DOID:5327 retinal detachment ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 2275 Casp3 caspase 3 gene DOID:5434 scrapie ISO RGD:10289 D RGD:13782156|PMID:27921253 20180824 RGD 2275 Casp3 caspase 3 gene DOID:557 kidney disease IEP D RGD:13782293|PMID:29257007 20180904 RGD 2275 Casp3 caspase 3 gene DOID:5679 retinal disease IEP D RGD:5490154|PMID:18836575 20120321 RGD protein:increased expression:retina 2275 Casp3 caspase 3 gene DOID:5844 myocardial infarction ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 2275 Casp3 caspase 3 gene DOID:5844 myocardial infarction ameliorates IEP D RGD:329333030|PMID:28622474 20230426 RGD 2275 Casp3 caspase 3 gene DOID:5844 myocardial infarction treatment IEP D RGD:13782309|PMID:27904666 20180904 RGD 2275 Casp3 caspase 3 gene DOID:6000 congestive heart failure treatment IEP D RGD:13792577|PMID:29746994 20180913 RGD 2275 Casp3 caspase 3 gene DOID:630 genetic disease ISO RGD:731002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2275 Casp3 caspase 3 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:13782296|PMID:29133031 20180904 RGD 2275 Casp3 caspase 3 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 2275 Casp3 caspase 3 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20201001 RGD protein:increased expression:aorta (rat) 2275 Casp3 caspase 3 gene DOID:83 cataract treatment IEP D RGD:13782357|PMID:23508955 20180906 RGD 2275 Casp3 caspase 3 gene DOID:8398 osteoarthritis treatment IEP D RGD:13782343|PMID:29138829 20180905 RGD 2275 Casp3 caspase 3 gene DOID:8577 ulcerative colitis ISO RGD:731002 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 2275 Casp3 caspase 3 gene DOID:863 nervous system disease ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12196588 2275 Casp3 caspase 3 gene DOID:8947 diabetic retinopathy IEP D RGD:2311444|PMID:19187597 20090716 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina 2275 Casp3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:10289 D RGD:2311448|PMID:19013511 20090716 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2275 Casp3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 2275 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053608|PMID:21748659 20180802 RGD 2275 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2293322|PMID:18378144 20080527 RGD 2275 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14588118 2275 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:13782345|PMID:27339639 20180905 RGD 2275 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:13792677|PMID:27256506 20180919 RGD 2275 Casp3 caspase 3 gene DOID:9000197 Edema ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 2275 Casp3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24602480 2275 Casp3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment IDA D RGD:13782347|PMID:26163325 20180906 RGD 2275 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:10289 D RGD:13702877|PMID:21055654 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:731002 D RGD:13702873|PMID:24303754 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10289 D RGD:13702867|PMID:29556195 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10289 D RGD:13702870|PMID:27693786 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10289 D RGD:13702871|PMID:27184135 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:731002 D RGD:13702866|PMID:29977885 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9000808 Hypercholesterolemia IEP D RGD:13782354|PMID:24484682 20180906 RGD 2275 Casp3 caspase 3 gene DOID:9000855 Experimental Radiation Injuries treatment IEP D RGD:13782350|PMID:24939579 20180906 RGD 2275 Casp3 caspase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731002 D RGD:2293306|PMID:18064531 20080527 RGD associated with Breast Neoplasms 2275 Casp3 caspase 3 gene DOID:9000998 Brain Injuries treatment IEP D RGD:10054247|PMID:20888848 20150730 RGD 2275 Casp3 caspase 3 gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:11555349|PMID:26754107 20180906 RGD 2275 Casp3 caspase 3 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:13782298|PMID:29061477 20180904 RGD associated with Brain Injuries, Traumatic 2275 Casp3 caspase 3 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2311440|PMID:19601660 20090716 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney 2275 Casp3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13782304|PMID:28456626 20180904 RGD associated with type 2 diabetes mellitus 2275 Casp3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792586|PMID:29606028 20180914 RGD associated with Diabetes Mellitus, Experimental 2275 Casp3 caspase 3 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:10054114|PMID:22932950 20150728 RGD 2275 Casp3 caspase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:10289 D RGD:2293307|PMID:18063461 20080527 RGD 2275 Casp3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:13702869|PMID:28903333 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:10289 D RGD:13702874|PMID:23833961 20180720 RGD 2275 Casp3 caspase 3 gene DOID:9002467 Mycoplasma Infections ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 2275 Casp3 caspase 3 gene DOID:9002669 Hypoxia IEP D RGD:2293315|PMID:18466900 20080527 RGD 2275 Casp3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 2275 Casp3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ameliorates IEP D RGD:329337378|PMID:31376096 20230429 RGD 2275 Casp3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage treatment IEP D RGD:13782306|PMID:28096675 20180904 RGD 2275 Casp3 caspase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2311436|PMID:18521931 20090715 RGD protein:increased activity, increased expression:spinal cord 2275 Casp3 caspase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:10289 D RGD:13209144|PMID:18366456 20170830 RGD 2275 Casp3 caspase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14999069 2275 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:2311455|PMID:18603371 20090717 RGD protein:increased activity:cerebral cortex, hippocampus 2275 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13782359|PMID:23046993 20180906 RGD 2275 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:10054502|PMID:21189961 20150810 RGD 2275 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:13782279|PMID:27216999 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:13782292|PMID:29635023 20180904 RGD 2275 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:155882465|PMID:24089674 20230124 RGD 2275 Casp3 caspase 3 gene DOID:9004009 Reperfusion Injury IMP D RGD:2293311|PMID:18490106 20080527 RGD 2275 Casp3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 2275 Casp3 caspase 3 gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:13792595|PMID:29568770 20180914 RGD 2275 Casp3 caspase 3 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:13782275|PMID:29621761 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9004484 Sepsis ISO RGD:731002 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:16003065|PMID:32062619 2275 Casp3 caspase 3 gene DOID:9004484 Sepsis treatment IEP D RGD:13782295|PMID:29180187 20180904 RGD 2275 Casp3 caspase 3 gene DOID:9004590 Acute Liver Failure treatment IEP D RGD:13782174|PMID:26238033 20180827 RGD 2275 Casp3 caspase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:731002 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 2275 Casp3 caspase 3 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:13782288|PMID:29755641 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9005020 Brain Contusion treatment IEP D RGD:13782305|PMID:28140659 20180904 RGD 2275 Casp3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms severity IEP D RGD:10053708|PMID:20732338 20150720 RGD 2275 Casp3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 2275 Casp3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:13782283|PMID:26699876 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311447|PMID:19094082 20090716 RGD protein:increased activity:hypothalamus 2275 Casp3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 2275 Casp3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:13782300|PMID:28843149 20180904 RGD 2275 Casp3 caspase 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment IDA D RGD:13782262|PMID:27781957 20180829 RGD 2275 Casp3 caspase 3 gene DOID:9005930 Endotoxemia IEP D RGD:10054120|PMID:23940949 20150728 RGD mRNA:increased expression:diaphragm 2275 Casp3 caspase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:10054101|PMID:23151253 20150727 RGD 2275 Casp3 caspase 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 2275 Casp3 caspase 3 gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:10054119|PMID:23953793 20150728 RGD 2275 Casp3 caspase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:13782299|PMID:28992627 20180904 RGD 2275 Casp3 caspase 3 gene DOID:9007096 Stroke IEP D RGD:2293316|PMID:18463494 20080527 RGD protein:increased activation:cerebral cortex 2275 Casp3 caspase 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10289 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 2275 Casp3 caspase 3 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:13782289|PMID:29748970 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9007730 Burns treatment IEP D RGD:10054126|PMID:22153006 20150728 RGD 2275 Casp3 caspase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:13782356|PMID:23946597 20180906 RGD 2275 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2293314|PMID:18470603 20080527 RGD 2275 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 2275 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:10289 D RGD:329337366|PMID:30259997 20230428 RGD 2275 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782276|PMID:29538428 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 2275 Casp3 caspase 3 gene DOID:9351 diabetes mellitus IEP D RGD:40400904|PMID:28412870 20201105 RGD protein:increased expression:ovary 2275 Casp3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 2275 Casp3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:2311446|PMID:19100955 20090716 RGD protein:increased activity:pancreatic B cell 2275 Casp3 caspase 3 gene DOID:9408 acute myocardial infarction treatment IEP D RGD:13782284|PMID:26550220 20180831 RGD 2275 Casp3 caspase 3 gene DOID:9743 diabetic neuropathy IEP D RGD:2311441|PMID:19555701 20090716 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve 2275 Casp3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:731002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12502508 2275 Casp3 caspase 3 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:2311451|PMID:15855338 20090716 RGD protein:increased activity:hippocampus 2276 Casq2 calsequestrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12034872|PMID:17881003|PMID:18543230|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 2276 Casq2 calsequestrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:737298 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 2276 Casq2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20513597 2276 Casq2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 2276 Casq2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 2276 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 2276 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 2276 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 2276 Casq2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:7240710 20170802 OMIM 2276 Casq2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:11704930|PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16908766|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26196381|PMID:26671417|PMID:27157848|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 2276 Casq2 calsequestrin 2 gene DOID:0080074 neural tube defect ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:0080690 RASopathy ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:0080700 caudal regression syndrome ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:0111073 progressive familial heart block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 2276 Casq2 calsequestrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737298 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:20530761|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:1929 supravalvular aortic stenosis onset IEP D RGD:6771235|PMID:1531837 20120724 RGD mRNA:decreased expression:left ventricle myocardium 2276 Casq2 calsequestrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737298 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 2276 Casq2 calsequestrin 2 gene DOID:6000 congestive heart failure IEP D RGD:6771208|PMID:21565973 20120718 RGD mRNA:increased expression:sinoatrial node 2276 Casq2 calsequestrin 2 gene DOID:630 genetic disease ISO RGD:737298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2276 Casq2 calsequestrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737298 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20530761|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27114410|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:9003163 Heart Block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27114410|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18052993 2276 Casq2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:737298 D RGD:734697|PMID:11704930 20070327 RGD DNA:missense mutation: :p.D307H (human) 2276 Casq2 calsequestrin 2 gene DOID:9006945 Diabetic Cardiomyopathies IDA D RGD:6771209|PMID:21441944 20120718 RGD associated with Diabetes Mellitus, Experimental 2276 Casq2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29255176|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 2276 Casq2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:12034872|PMID:14571276|PMID:18543230|PMID:19709828|PMID:21063088|PMID:21076409|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 2276 Casq2 calsequestrin 2 gene DOID:9007820 Sudden Death ISO RGD:737298 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12034872|PMID:18543230|PMID:21063088|PMID:21454795|PMID:22421959|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 2277 Casr calcium-sensing receptor gene DOID:0050450 Gitelman syndrome ISO RGD:10291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia 2277 Casr calcium-sensing receptor gene DOID:0050700 cardiomyopathy IDA D RGD:7205661|PMID:19188910 20130110 RGD associated with Uremia 2277 Casr calcium-sensing receptor gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10488104|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11136551|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889154|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12114500|PMID:12162500|PMID:12239240|PMID:12574188|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14519094|PMID:14602739|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15241688|PMID:15292296|PMID:15531522|PMID:15551332|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:15963484|PMID:16128246|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17576681|PMID:17698911|PMID:17803689|PMID:17974727|PMID:17979873|PMID:18219222|PMID:18296474|PMID:18328986|PMID:18410554|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19073830|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19549694|PMID:19694204|PMID:19759318|PMID:19763152|PMID:19779033|PMID:19789209|PMID:19953642|PMID:20034274|PMID:20119591|PMID:20164288|PMID:20307669|PMID:20335782|PMID:20335783|PMID:20374733|PMID:20495831|PMID:20501971|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21135065|PMID:21175100|PMID:21185797|PMID:21239511|PMID:21289269|PMID:21369680|PMID:21414629|PMID:21441391|PMID:21471599|PMID:21521328|PMID:21645025|PMID:21844754|PMID:22024717|PMID:22142470|PMID:22187299|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22406018|PMID:22422767|PMID:22620673|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23081733|PMID:23169696|PMID:23186954|PMID:23265383|PMID:23372019|PMID:23764372|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24244430|PMID:24297799|PMID:24394414|PMID:24517148|PMID:24735972|PMID:2476381|PMID:24763815|PMID:24823460|PMID:24854525|PMID:24947037|PMID:24948345|PMID:25045523|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25320261|PMID:25420019|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25765207|PMID:25766501|PMID:25792032|PMID:25828954|PMID:25977473|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26290606|PMID:26323216|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27418061|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:28870973|PMID:29026550|PMID:29354167|PMID:29375828|PMID:2983592|PMID:29846619|PMID:29848507|PMID:30019023|PMID:30052933|PMID:30306783|PMID:30407919|PMID:30895164|PMID:31063613|PMID:31189130|PMID:31433865|PMID:31433868|PMID:31672324|PMID:3169696|PMID:31883284|PMID:31967040|PMID:32160303|PMID:32347971|PMID:32386559|PMID:32430905|PMID:32638038|PMID:32761341|PMID:32871939|PMID:32892159|PMID:33094630|PMID:33147586|PMID:33258288|PMID:33434173|PMID:34008892|PMID:34024353|PMID:34088669|PMID:34160437|PMID:34887979|PMID:35733207|PMID:3966479|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9011580|PMID:9039332|PMID:9109436|PMID:9179454|PMID:9217223|PMID:9253359|PMID:9395465|PMID:9422777|PMID:9507434|PMID:9536098|PMID:9661634 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7916660 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:1600616|PMID:7916660 20130102 RGD DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human) 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:7205440|PMID:7726161 20130102 RGD DNA:missense mutations:cds:multiple (human) 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:7205499|PMID:21034470 20130108 RGD DNA:missense mutation:cds:p.A213E (human) 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:7240710 20230505 OMIM 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15579740|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16740594|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20290361|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21239511|PMID:21289269|PMID:21369680|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23169696|PMID:23372019|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24297799|PMID:24735972|PMID:24947037|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25420019|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29846619|PMID:29848507|PMID:30407919|PMID:30895164|PMID:31433868|PMID:31672324|PMID:32347971|PMID:32386559|PMID:32638038|PMID:32761341|PMID:33258288|PMID:34008892|PMID:34024353|PMID:34088669|PMID:3966479|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7673400|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8733126|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9422777 2277 Casr calcium-sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:1553551 D RGD:7205436|PMID:7493018 20130102 RGD 2277 Casr calcium-sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:13464331|PMID:17018660 20130102 RGD DNA:missense mutation:cds:p.R990G (rs1042636)(human) 2277 Casr calcium-sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:7205445|PMID:20602573 20130102 RGD DNA:missense mutations:cds:p.A986S, p.E1011Q (human) 2277 Casr calcium-sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:7205446|PMID:21966463 20130102 RGD DNA:snp:intron:IVS4+11988A>G rs17251221 (human) 2277 Casr calcium-sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis susceptibility ISO RGD:10291 D RGD:7205447|PMID:21183554 20130102 RGD associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human) 2277 Casr calcium-sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:7240710 20230505 OMIM 2277 Casr calcium-sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL PMID:10023897|PMID:10077597|PMID:10217111|PMID:10487661|PMID:10770217|PMID:10912749|PMID:10912782|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11152759|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11701698|PMID:11733622|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12050233|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12241879|PMID:12574188|PMID:12574201|PMID:12733714|PMID:12915654|PMID:14508624|PMID:14519094|PMID:14985373|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16128246|PMID:16497624|PMID:16608894|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20501971|PMID:20602573|PMID:20668040|PMID:21239511|PMID:21414629|PMID:21441391|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23186954|PMID:23372019|PMID:24033266|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25292184|PMID:25326635|PMID:25420019|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26323216|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27390877|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:31672324|PMID:31883284|PMID:34008892|PMID:7874174|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9253358|PMID:9422777|PMID:9536098|PMID:9661634|PMID:9920108 2277 Casr calcium-sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:1598940|PMID:7874174 20070104 RGD DNA:missense mutation:cds:p.E128A (human) 2277 Casr calcium-sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:7204717|PMID:8813042 19990101 RGD DNA:missense mutations:cds:multiple (human) 2277 Casr calcium-sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:7205656|PMID:20501971 20130110 RGD DNA:missense mutation:cds:p.T151M (human) 2277 Casr calcium-sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia PMID:11136551|PMID:11701698|PMID:12067826|PMID:12574188|PMID:12733714|PMID:14519094|PMID:17039419|PMID:19179454|PMID:20119591|PMID:20668040|PMID:21645025|PMID:22422767|PMID:22789683|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25420019|PMID:25741868|PMID:26467025|PMID:28492532 2277 Casr calcium-sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:1553551 D RGD:7205497|PMID:15347804 20130108 RGD DNA:missense mutation:cds:p.L723Q (mouse) 2277 Casr calcium-sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:7240710 20230505 OMIM 2277 Casr calcium-sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8 PMID:11807402|PMID:12107202|PMID:12191970|PMID:15879434|PMID:16598859|PMID:17284438|PMID:17698911|PMID:18756473|PMID:19389809|PMID:19779033|PMID:20164288|PMID:20798521|PMID:21414629|PMID:21521328|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23372019|PMID:24133354|PMID:25741868|PMID:26467025|PMID:26963950|PMID:27957351|PMID:28492532|PMID:29026550|PMID:29846619|PMID:30407919|PMID:31672324|PMID:32347971|PMID:8675635|PMID:8878438 2277 Casr calcium-sensing receptor gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:10291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20119591 2277 Casr calcium-sensing receptor gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19694204|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323 2277 Casr calcium-sensing receptor gene DOID:10283 prostate cancer ISO RGD:10291 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 2277 Casr calcium-sensing receptor gene DOID:1059 intellectual disability ISO RGD:10291 D RGD:7205468|PMID:21667241 20130104 RGD associated with Hypocalciuric Hypercalcemia, Familial, Type 1; DNA:deletion:exon:c.1952_1966del (human) 2277 Casr calcium-sensing receptor gene DOID:10609 rickets ISO RGD:1553551 D RGD:734698|PMID:12671052 19990101 RGD 2277 Casr calcium-sensing receptor gene DOID:11199 hypoparathyroidism ISO RGD:10291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11701698 2277 Casr calcium-sensing receptor gene DOID:11202 primary hyperparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19779033|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23372019|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323|PMID:8675635|PMID:8878438 2277 Casr calcium-sensing receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8675635|PMID:8878438 2277 Casr calcium-sensing receptor gene DOID:12466 secondary hyperparathyroidism ISO RGD:10291 D RGD:7205664|PMID:11044218 20130111 RGD protein:decreased expression:parathyroid gland (human) 2277 Casr calcium-sensing receptor gene DOID:12466 secondary hyperparathyroidism severity ISO RGD:10291 D RGD:7205505|PMID:19640368 20130108 RGD associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human) 2277 Casr calcium-sensing receptor gene DOID:12678 hypercalcemia ISO RGD:10291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9011580 2277 Casr calcium-sensing receptor gene DOID:12678 hypercalcemia ISO RGD:10291 D RGD:7205445|PMID:20602573 20130108 RGD DNA:missense mutations:cds:p.R990G, p.E1011Q (human) 2277 Casr calcium-sensing receptor gene DOID:12678 hypercalcemia ISO RGD:10291 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypercalcemia PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31672324|PMID:8675635|PMID:8878438 2277 Casr calcium-sensing receptor gene DOID:12678 hypercalcemia ISO RGD:1553551 D RGD:734698|PMID:12671052 19990101 RGD 2277 Casr calcium-sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:10291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9011580|PMID:11589681 2277 Casr calcium-sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:734698|PMID:12671052 19990101 RGD 2277 Casr calcium-sensing receptor gene DOID:1612 breast cancer ISO RGD:10291 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15864123|PMID:16497624|PMID:17018660|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:19694204|PMID:20602573|PMID:22024717|PMID:24033266|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26467025|PMID:28492532|PMID:8636323 2277 Casr calcium-sensing receptor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:10291 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2277 Casr calcium-sensing receptor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:10291 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868 2277 Casr calcium-sensing receptor gene DOID:1936 atherosclerosis IEP D RGD:7205672|PMID:22527939 20130111 RGD protein:increased expression:myocardium (rat) 2277 Casr calcium-sensing receptor gene DOID:1936 atherosclerosis ISO RGD:10291 D RGD:7205454|PMID:18852253 20130103 RGD protein:decreased expression:tibial artery (human) 2277 Casr calcium-sensing receptor gene DOID:5844 myocardial infarction IEP D RGD:7205672|PMID:22527939 20130111 RGD protein:increased expression:myocardium (rat) 2277 Casr calcium-sensing receptor gene DOID:585 nephrolithiasis ISO RGD:10291 D RGD:7205448|PMID:20067903 20130102 RGD DNA:snps, haplotypes:multiple (human) 2277 Casr calcium-sensing receptor gene DOID:630 genetic disease ISO RGD:10291 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10023897|PMID:10217111|PMID:10468915|PMID:10912749|PMID:10971459|PMID:11089548|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11733622|PMID:11763315|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:14089114|PMID:14508624|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15579740|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16497624|PMID:16598859|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:18796518|PMID:18887540|PMID:18938753|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19759318|PMID:19915295|PMID:20164288|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20846291|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22620673|PMID:23265383|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24394414|PMID:24517148|PMID:24735972|PMID:24823460|PMID:24854525|PMID:24947037|PMID:25104082|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27666534|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29636377|PMID:29846619|PMID:30376845|PMID:30407919|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:31883284|PMID:32347971|PMID:32386559|PMID:32638038|PMID:32871939|PMID:33094630|PMID:34024353|PMID:34160437|PMID:35733207|PMID:3966479|PMID:7673400|PMID:8636323|PMID:8675635|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9536098 2277 Casr calcium-sensing receptor gene DOID:6432 pulmonary hypertension IEP D RGD:7205669|PMID:22730443 20130111 RGD protein:increased expression:pulmonary artery (rat) 2277 Casr calcium-sensing receptor gene DOID:7608 parathyroid adenoma ISO RGD:10291 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8675635|PMID:8878438 2277 Casr calcium-sensing receptor gene DOID:783 end stage renal disease ISO RGD:10291 D RGD:7205455|PMID:17537980 20130103 RGD protein:decreased expression:epigastric artery (human) 2277 Casr calcium-sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7916660 2277 Casr calcium-sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:7240710 20230505 OMIM 2277 Casr calcium-sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism PMID:10023897|PMID:10217111|PMID:10770217|PMID:10885494|PMID:10912749|PMID:11013439|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12890593|PMID:1302026|PMID:14508624|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15598778|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16497624|PMID:16642557|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18219222|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18830196|PMID:1889203|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20164288|PMID:20290361|PMID:20602573|PMID:21289269|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22331334|PMID:22422767|PMID:22798347|PMID:23077345|PMID:23372019|PMID:23764372|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24854525|PMID:24947037|PMID:25091521|PMID:25292184|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29846619|PMID:29848507|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:32761341|PMID:33258288|PMID:34088669|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9253359 2277 Casr calcium-sensing receptor gene DOID:9001542 Albuminuria IDA D RGD:7205661|PMID:19188910 20130110 RGD associated with Uremia 2277 Casr calcium-sensing receptor gene DOID:9001738 Hypercalciuria IEP D RGD:7205675|PMID:22137721 20130111 RGD mRNA, protein:increased expression:kidney (rat) 2277 Casr calcium-sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:10291 D RGD:7205445|PMID:20602573 20180104 RGD DNA:missense mutation: :p.E1011Q (human) 2277 Casr calcium-sensing receptor gene DOID:9001738 Hypercalciuria no_association ISO RGD:10291 D RGD:7205502|PMID:19887834 20130108 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) 2277 Casr calcium-sensing receptor gene DOID:9001738 Hypercalciuria susceptibility ISO RGD:10291 D RGD:7205666|PMID:12239240 20130111 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) 2277 Casr calcium-sensing receptor gene DOID:9002669 Hypoxia IMP D RGD:7205678|PMID:22098336 20130114 RGD 2277 Casr calcium-sensing receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10291 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2277 Casr calcium-sensing receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7205442|PMID:22844268 20130102 RGD protein:increased expression:pancreas, liver, kidney (rat) 2277 Casr calcium-sensing receptor gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:7205677|PMID:22137362 20130114 RGD protein:decreased expression:myocardium (rat) 2277 Casr calcium-sensing receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807402|PMID:17698911|PMID:20164288|PMID:21521328|PMID:22192860|PMID:22422767|PMID:24133354|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29846619|PMID:30895164|PMID:33094630 2277 Casr calcium-sensing receptor gene DOID:9007257 Autosomal Dominant Hypocalcemia, with Bartter Syndrome ISO RGD:10291 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2277 Casr calcium-sensing receptor gene DOID:9007257 Autosomal Dominant Hypocalcemia, with Bartter Syndrome ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome PMID:11152759|PMID:12107202|PMID:12191970|PMID:12241879|PMID:15005845|PMID:17048213|PMID:25741868 2277 Casr calcium-sensing receptor gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7205698|PMID:21766206 20130114 RGD protein:increased expression:ventricular myocardium (rat) 2277 Casr calcium-sensing receptor gene DOID:9008086 Developmental Disabilities ISO RGD:10291 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 2277 Casr calcium-sensing receptor gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:10291 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 2277 Casr calcium-sensing receptor gene DOID:9009050 Hypocalcemia ISO RGD:10291 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:7874174|PMID:11701698 2277 Casr calcium-sensing receptor gene DOID:9009050 Hypocalcemia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia PMID:25741868|PMID:28492532 2277 Casr calcium-sensing receptor gene DOID:9270 alkaptonuria ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 2278 Cast calpastatin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2278 Cast calpastatin gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:737362 D RGD:5509810|PMID:17853947 20111104 RGD 2278 Cast calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:10292 D RGD:5509799|PMID:20595388 20111104 RGD 2278 Cast calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:737362 D RGD:5509809|PMID:19020018 20111104 RGD protein:decreased expression:brain 2278 Cast calpastatin gene DOID:12894 Sjogren's syndrome ISO RGD:737362 D RGD:5683622|PMID:15540513 20111129 RGD associated with Lupus Erythematosus, Systemic 2278 Cast calpastatin gene DOID:14067 Plasmodium falciparum malaria ISO RGD:737362 D RGD:5509812|PMID:17359359 20111104 RGD protein:alter localization:erythrocyte 2278 Cast calpastatin gene DOID:14069 cerebral malaria ISO RGD:10292 D RGD:5509817|PMID:16236382 20111104 RGD protein:increased express:brain 2278 Cast calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:5509800|PMID:20127884 20111104 RGD DNA:SNP:intron: (rs1559085) (human) 2278 Cast calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:5683320|PMID:10722997 20111128 RGD protein:decreased expression:substantia nigra, dopaminergic neuron 2278 Cast calpastatin gene DOID:2316 brain ischemia IDA D RGD:5509813|PMID:16467455 20111104 RGD 2278 Cast calpastatin gene DOID:630 genetic disease ISO RGD:737362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2278 Cast calpastatin gene DOID:7148 rheumatoid arthritis ISO RGD:737362 D RGD:5683620|PMID:7706496 20111129 RGD 2278 Cast calpastatin gene DOID:820 myocarditis ISO RGD:737362 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34365571 2278 Cast calpastatin gene DOID:865 vasculitis ISO RGD:737362 D RGD:5683623|PMID:12367559 20111129 RGD associated with Lupus Erythematosus, Systemic 2278 Cast calpastatin gene DOID:8893 psoriasis ISO RGD:737362 D RGD:5509819|PMID:15654835 20111104 RGD 2278 Cast calpastatin gene DOID:9000220 Coxsackievirus Infections ISO RGD:737362 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34365571 2278 Cast calpastatin gene DOID:9000998 Brain Injuries severity IEP D RGD:5509821|PMID:15307896 20111104 RGD mRNA:increased expression:cerebral cortex 2278 Cast calpastatin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737362 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34365571 2278 Cast calpastatin gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:5683321|PMID:10318818 20111128 RGD 2278 Cast calpastatin gene DOID:9004009 Reperfusion Injury IEP D RGD:5509823|PMID:11035539 20111104 RGD 2278 Cast calpastatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737362 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2278 Cast calpastatin gene DOID:9004484 Sepsis IEP D RGD:5683871|PMID:15563579 20111201 RGD 2278 Cast calpastatin gene DOID:9004590 Acute Liver Failure ISO RGD:737362 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16871587 2278 Cast calpastatin gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:737362 D RGD:7240710 20150624 OMIM 2278 Cast calpastatin gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:737362 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:25741868|PMID:28492532|PMID:3527073 2278 Cast calpastatin gene DOID:9005749 Necrosis ISO RGD:737362 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17323976 2278 Cast calpastatin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2278 Cast calpastatin gene DOID:9007096 Stroke IDA D RGD:5509801|PMID:20116408 20111104 RGD 2278 Cast calpastatin gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:5683869|PMID:16871587 20111201 RGD 2278 Cast calpastatin gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5683872|PMID:12482022 20111201 RGD 2278 Cast calpastatin gene DOID:9074 systemic lupus erythematosus ISO RGD:737362 D RGD:5683623|PMID:12367559 20111129 RGD 2278 Cast calpastatin gene DOID:9182 pemphigus ISO RGD:737362 D RGD:5509814|PMID:16314468 20111104 RGD 2278 Cast calpastatin gene DOID:9281 phenylketonuria ISO RGD:10292 D RGD:5509818|PMID:15863237 20111104 RGD mRNA, protein:decreased expression:brain 2278 Cast calpastatin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737362 D RGD:5509822|PMID:11264179 20111104 RGD protein:increased expresssion:B cell 2279 Cat catalase gene DOID:0002116 pterygium ISO RGD:732740 D RGD:9068921|PMID:18987486 20140822 RGD protein:increased activity:conjunctiva 2279 Cat catalase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26074427 2279 Cat catalase gene DOID:0050700 cardiomyopathy ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11800590 2279 Cat catalase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 2279 Cat catalase gene DOID:0050853 chronic venous insufficiency ISO RGD:732740 D RGD:9479068|PMID:23182154 20140826 RGD protein:decreased activity:plasma: 2279 Cat catalase gene DOID:0060071 pre-malignant neoplasm ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 2279 Cat catalase gene DOID:0060180 colitis IDA D RGD:5130869|PMID:21463646 20110413 RGD 2279 Cat catalase gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:127284843|PMID:29229353 20210609 RGD 2279 Cat catalase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732740 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 2279 Cat catalase gene DOID:0080600 COVID-19 ISO RGD:732740 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2279 Cat catalase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737448 D RGD:7205663|PMID:21557843 20130111 RGD 2279 Cat catalase gene DOID:0081120 Graves ophthalmopathy ISO RGD:732740 D RGD:9071200|PMID:20394549 20140825 RGD protein:decreased activity:blood: 2279 Cat catalase gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:732740 D RGD:9086875|PMID:15158621 20140825 RGD protein:increased activity:plasma: 2279 Cat catalase gene DOID:10003 sensorineural hearing loss IEP D RGD:8547516|PMID:15109710 20140825 RGD 2279 Cat catalase gene DOID:10247 pleurisy ISO RGD:737448 D RGD:5130749|PMID:19778612 20110412 RGD 2279 Cat catalase gene DOID:10300 Raynaud disease treatment ISO RGD:732740 D RGD:9479162|PMID:17401513 20140829 RGD associated with Scleroderma, Systemic;protein:decreased activity:serum: 2279 Cat catalase gene DOID:10316 pneumoconiosis ISO RGD:732740 D RGD:5130756|PMID:19273541 20110412 RGD protein:increased expression:respiratory system fluid/secretion 2279 Cat catalase gene DOID:10584 retinitis pigmentosa ISO RGD:732740 D RGD:8158049|PMID:19293779 20140206 RGD 2279 Cat catalase gene DOID:1059 intellectual disability ISO RGD:732740 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2279 Cat catalase gene DOID:10754 otitis media treatment IEP D RGD:7401215|PMID:22173336 20140822 RGD protein:decreased activity:cochlea,serum: 2279 Cat catalase gene DOID:10763 hypertension IEP D RGD:1580833|PMID:16716903 20140821 RGD 2279 Cat catalase gene DOID:10763 hypertension ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11479740|PMID:20667508|PMID:21593737|PMID:22228705 2279 Cat catalase gene DOID:10808 gastric ulcer IEP D RGD:5130860|PMID:17895592 20110413 RGD protein:increased expression:stomach 2279 Cat catalase gene DOID:10808 gastric ulcer ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1887894 2279 Cat catalase gene DOID:10825 essential hypertension ISO RGD:732740 D RGD:1581147|PMID:15735318 19990101 RGD 2279 Cat catalase gene DOID:11054 urinary bladder cancer ISO RGD:732740 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2279 Cat catalase gene DOID:11088 asphyxia neonatorum ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 2279 Cat catalase gene DOID:11396 pulmonary edema ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15612528 2279 Cat catalase gene DOID:11446 sciatic neuropathy IEP D RGD:9479064|PMID:19675389 20140826 RGD protein:decreased activity:sciatic nerve, spinal cord, dorsal root ganglion: 2279 Cat catalase gene DOID:11650 bronchopulmonary dysplasia IDA D RGD:5130750|PMID:19693467 20110412 RGD 2279 Cat catalase gene DOID:1210 optic neuritis treatment ISO RGD:732740 D RGD:9068881|PMID:18055782 20140821 RGD associated with Encephalomyelitis, Autoimmune, Experimental; 2279 Cat catalase gene DOID:1214 tympanosclerosis ISO RGD:732740 D RGD:9479056|PMID:14710000 20140826 RGD protein:increased activity:erythrocyte: 2279 Cat catalase gene DOID:12306 vitiligo ISO RGD:732740 D RGD:9479169|PMID:19439879 20140829 RGD protein:decreased activity:skin: 2279 Cat catalase gene DOID:12306 vitiligo no_association ISO RGD:732740 D RGD:9479150|PMID:23868633 20140827 RGD DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) 2279 Cat catalase gene DOID:12306 vitiligo susceptibility ISO RGD:732740 D RGD:9479149|PMID:20613769 20140827 RGD DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) 2279 Cat catalase gene DOID:12361 Graves' disease treatment ISO RGD:732740 D RGD:9068908|PMID:12919155 20140822 RGD protein:decreased activity:erythrocyte: 2279 Cat catalase gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:732740 D RGD:8655661|PMID:22574884 20140822 RGD DNA:haplotype: : 2279 Cat catalase gene DOID:12849 autistic disorder ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 2279 Cat catalase gene DOID:12858 Huntington's disease IEP D RGD:5130752|PMID:19445928 20110412 RGD protein:decreased expression:brain 2279 Cat catalase gene DOID:1289 neurodegenerative disease treatment IEP D RGD:11557995|PMID:26208597 20161104 RGD 2279 Cat catalase gene DOID:12930 dilated cardiomyopathy ISO RGD:732740 D RGD:1581150|PMID:10652196 19990101 RGD 2279 Cat catalase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737448 D RGD:7205647|PMID:22443450 20130109 RGD 2279 Cat catalase gene DOID:13207 proliferative diabetic retinopathy ISO RGD:732740 D RGD:9068931|PMID:24092995 20140825 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: 2279 Cat catalase gene DOID:13208 background diabetic retinopathy ISO RGD:732740 D RGD:9068931|PMID:24092995 20140825 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: 2279 Cat catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 2279 Cat catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068907|PMID:17206395 20140822 RGD protein:decreased activity:erythrocyte: 2279 Cat catalase gene DOID:13550 angle-closure glaucoma severity ISO RGD:732740 D RGD:9068947|PMID:23961996 20140825 RGD DNA:SNP:promoter:g.4760C>T(rs1001179)(human) 2279 Cat catalase gene DOID:13580 cholestasis IDA D RGD:5130873|PMID:21339256 20110413 RGD 2279 Cat catalase gene DOID:13580 cholestasis ISO RGD:732740 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 2279 Cat catalase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 2279 Cat catalase gene DOID:14323 Marfan syndrome ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 2279 Cat catalase gene DOID:14566 disease of cellular proliferation ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21854796 2279 Cat catalase gene DOID:1459 hypothyroidism treatment IEP D RGD:38549578|PMID:29896255 20200902 RGD 2279 Cat catalase gene DOID:1470 major depressive disorder ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 2279 Cat catalase gene DOID:1596 depressive disorder ISO RGD:732740 D RGD:126908003|PMID:31396300 20210524 RGD associated with gastric adenocarcinoma; protein:decreased expression:blood serum (human) 2279 Cat catalase gene DOID:161 keratosis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 2279 Cat catalase gene DOID:161 keratosis susceptibility ISO RGD:732740 D RGD:9479152|PMID:14580687 20140827 RGD DNA:SNP:promoter:-262C>T(rs1001179)(human) 2279 Cat catalase gene DOID:1679 cystitis IEP D RGD:11035303|PMID:26109091 20160216 RGD mRNA:decreased expression:urinary bladder 2279 Cat catalase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732740 D RGD:2317410|PMID:12499913 20100402 RGD protein:decreased expression:pancreas 2279 Cat catalase gene DOID:1824 status epilepticus ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15245787|PMID:15752349|PMID:17383094|PMID:18096215 2279 Cat catalase gene DOID:1909 melanoma ISO RGD:732740 D RGD:9479151|PMID:9758419 20140827 RGD protein:increased activity:melanocyte: 2279 Cat catalase gene DOID:1909 melanoma ISO RGD:737448 D RGD:9479742|PMID:15224238 20140908 RGD protein:increased activity:multiple: 2279 Cat catalase gene DOID:2237 hepatitis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1937386 2279 Cat catalase gene DOID:2316 brain ischemia IDA D RGD:5130891|PMID:21213399 20110413 RGD 2279 Cat catalase gene DOID:2316 brain ischemia ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17564305 2279 Cat catalase gene DOID:2527 nephrosis ISO RGD:732740 D RGD:7205671|PMID:20685819 20130111 RGD mRNA: decreased expression: glomerulus 2279 Cat catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1551654|PMID:2308162|PMID:11001624|PMID:11117918|PMID:26074427|PMID:34390818 2279 Cat catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:7240710 20171011 OMIM 2279 Cat catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia PMID:11197178|PMID:1551654|PMID:2308162|PMID:25741868|PMID:28492532|PMID:8673475 2279 Cat catalase gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:732740 D RGD:8547520|PMID:17693525 20140908 RGD DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) 2279 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 2279 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:5130753|PMID:19373626 20110412 RGD DNA:polymorphism:promoter:-21A>T (human) 2279 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:5130856|PMID:18048809 20110413 RGD DNA:polymorphism:promoter:-262C>T (human) 2279 Cat catalase gene DOID:2841 asthma ISO RGD:737448|RGD:732740 D RGD:5130867|PMID:16622028 20110413 RGD protein:decreased activity:respiratory system fluid/secretion 2279 Cat catalase gene DOID:2841 asthma severity ISO RGD:732740 D RGD:5130751|PMID:19475625 20110412 RGD protein:increased expression:erythrocyte 2279 Cat catalase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:732740 D RGD:152995273|PMID:8138195 20220610 RGD protein:increased activity:larynx 2279 Cat catalase gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:732740 D RGD:9480233|PMID:22135646 20140908 RGD 2279 Cat catalase gene DOID:3070 high grade glioma ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 2279 Cat catalase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732740 D RGD:4293707|PMID:20080081 20110408 RGD 2279 Cat catalase gene DOID:3458 breast adenocarcinoma ISO RGD:732740 D RGD:9226881|PMID:25050522 20140825 RGD 2279 Cat catalase gene DOID:3491 Turner syndrome ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 2279 Cat catalase gene DOID:3602 toxic encephalopathy IEP D RGD:9068882|PMID:16938375 20140821 RGD protein:decreased activity:serum: 2279 Cat catalase gene DOID:3717 gastric adenocarcinoma ISO RGD:732740 D RGD:126908003|PMID:31396300 20210524 RGD protein:decreased expression:blood serum (human) 2279 Cat catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:19684199 2279 Cat catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:5130199|PMID:21190578 20110407 RGD mRNA, protein:decreased expression:lung 2279 Cat catalase gene DOID:3908 lung non-small cell carcinoma ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11731445 2279 Cat catalase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732740 D RGD:9068926|PMID:20204550 20140822 RGD protein:increased activity:plasma: 2279 Cat catalase gene DOID:4481 allergic rhinitis ISO RGD:732740 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29028686 2279 Cat catalase gene DOID:4483 rhinitis treatment ISO RGD:737448 D RGD:9479054|PMID:21541033 20140826 RGD protein:increased activity:blood,nasal cavity mucosa: 2279 Cat catalase gene DOID:5199 ureteral obstruction IEP D RGD:5130876|PMID:21305585 20110413 RGD protein:decreased expression:kidney 2279 Cat catalase gene DOID:520 aortic disease ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 2279 Cat catalase gene DOID:5679 retinal disease treatment IEP D RGD:9107626|PMID:17514533 20140825 RGD associated with radiation injuries;protein:decreased activity:retina: 2279 Cat catalase gene DOID:5844 myocardial infarction IEP D RGD:1581148|PMID:14575298 19990101 RGD 2279 Cat catalase gene DOID:5844 myocardial infarction ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21600015 2279 Cat catalase gene DOID:591 phobic disorder ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15309392 2279 Cat catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16105639 2279 Cat catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:1581151|PMID:10618301 19990101 RGD 2279 Cat catalase gene DOID:630 genetic disease ISO RGD:732740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2279 Cat catalase gene DOID:631 fibromyalgia ISO RGD:732740 D RGD:9479066|PMID:22532869 20140826 RGD protein:decreased activity:mononuclear cell: 2279 Cat catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9479167|PMID:16489259 20140829 RGD protein:decreased activity:blood: 2279 Cat catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9479168|PMID:11349462 20140829 RGD protein:increased activity:leukocyte: 2279 Cat catalase gene DOID:6543 acne severity ISO RGD:732740 D RGD:9479743|PMID:23174057 20140908 RGD 2279 Cat catalase gene DOID:684 hepatocellular carcinoma ISO RGD:732740 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 2279 Cat catalase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732740 D RGD:27095879|PMID:21907168 20200514 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) 2279 Cat catalase gene DOID:7148 rheumatoid arthritis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 2279 Cat catalase gene DOID:783 end stage renal disease IEP D RGD:6892947|PMID:20007347 20130115 RGD protein: decreased expression :kidney 2279 Cat catalase gene DOID:783 end stage renal disease ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16518626|PMID:19420110 2279 Cat catalase gene DOID:7998 hyperthyroidism IEP D RGD:9068475|PMID:19914224 20140820 RGD mRNA:decreased expression:liver: 2279 Cat catalase gene DOID:7998 hyperthyroidism ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23391542 2279 Cat catalase gene DOID:8295 scabies treatment ISO RGD:732740 D RGD:9479747|PMID:17884035 20140908 RGD 2279 Cat catalase gene DOID:83 cataract ISO RGD:732740 D RGD:9068905|PMID:15295623 20140822 RGD protein:decreased activity:erythrocyte: 2279 Cat catalase gene DOID:83 cataract no_association ISO RGD:732740 D RGD:9068911|PMID:11408722 20140822 RGD 2279 Cat catalase gene DOID:83 cataract treatment IEP D RGD:9068909|PMID:21635889 20140822 RGD protein:decreased activity:lens: 2279 Cat catalase gene DOID:850 lung disease IDA D RGD:5130202|PMID:20534640 20110408 RGD Acute Lung Injury 2279 Cat catalase gene DOID:850 lung disease IDA D RGD:5130773|PMID:18793622 20110412 RGD Lung Injury 2279 Cat catalase gene DOID:850 lung disease IEP D RGD:5130747|PMID:19895324 20110412 RGD Lung Injury associated with Hyperoxia 2279 Cat catalase gene DOID:850 lung disease ISO RGD:732740 D RGD:5130745|PMID:19897513 20110412 RGD DNA:SNP:promoter:-330G>A (rs1001179) (human) 2279 Cat catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:5130199|PMID:21190578 20110407 RGD Lung Injury;protein:decreased expression:lung 2279 Cat catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:5130768|PMID:19151196 20110412 RGD Acute Lung Injury 2279 Cat catalase gene DOID:874 bacterial pneumonia IDA D RGD:5130748|PMID:19842849 20110412 RGD protein:decreased expression:lung, plasma 2279 Cat catalase gene DOID:8741 seborrheic dermatitis ISO RGD:732740 D RGD:9479166|PMID:24001414 20140829 RGD protein:increased activity:scalp: 2279 Cat catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 2279 Cat catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9479159|PMID:12602965 20140827 RGD protein:increased activity:serum: 2279 Cat catalase gene DOID:8893 psoriasis treatment ISO RGD:732740 D RGD:9479170|PMID:12165738 20140829 RGD protein:decreased activity:skin: 2279 Cat catalase gene DOID:8893 psoriasis treatment ISO RGD:737448 D RGD:9479744|PMID:24018880 20140908 RGD protein:decreased activity:liver: 2279 Cat catalase gene DOID:8947 diabetic retinopathy IEP D RGD:5130875|PMID:21314438 20110413 RGD protein:decreased expression:retina 2279 Cat catalase gene DOID:9000197 Edema ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 2279 Cat catalase gene DOID:9000307 Presbycusis ISO RGD:737448 D RGD:8655636|PMID:11678164 20140826 RGD 2279 Cat catalase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732740 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2279 Cat catalase gene DOID:9000564 Prehypertension susceptibility IEP D RGD:9068479|PMID:23096233 20140820 RGD 2279 Cat catalase gene DOID:9000918 Disease Progression ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686 2279 Cat catalase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12538496|PMID:22580338|PMID:23518002 2279 Cat catalase gene DOID:9001472 Nasal Polyps ISO RGD:732740 D RGD:9479048|PMID:16287205 20140826 RGD protein:increased activity:nasal concha: 2279 Cat catalase gene DOID:9001488 Human Influenza ISO RGD:732740 D RGD:5130744|PMID:19959187 20110412 RGD 2279 Cat catalase gene DOID:9001488 Human Influenza ISO RGD:737448 D RGD:5130201|PMID:20653246 20110408 RGD 2279 Cat catalase gene DOID:9001488 Human Influenza ISO RGD:737448 D RGD:5130864|PMID:16804020 20110413 RGD 2279 Cat catalase gene DOID:9001725 Retina Reperfusion Injury treatment IEP D RGD:9068919|PMID:22509733 20140822 RGD protein:decreased expression,decreased activity:retina: 2279 Cat catalase gene DOID:9002165 Diabetic Nephropathies IDA D RGD:7205665|PMID:21525431 20130111 RGD 2279 Cat catalase gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7205662|PMID:21686137 20130110 RGD associated with experimentally induced diabetes 2279 Cat catalase gene DOID:9002165 Diabetic Nephropathies IMP D RGD:7205676|PMID:20299359 20130111 RGD rat gene in db/db mice 2279 Cat catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:737448 D RGD:7205651|PMID:22315314 20130109 RGD 2279 Cat catalase gene DOID:9002211 Hyperalgesia treatment IEP D RGD:9479063|PMID:23952340 20140826 RGD 2279 Cat catalase gene DOID:9002211 Hyperalgesia treatment IMP D RGD:9479069|PMID:23658840 20140826 RGD 2279 Cat catalase gene DOID:9002315 Kidney Calculi ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 2279 Cat catalase gene DOID:9002371 Cardiotoxicity ISO RGD:732740 D RGD:11554173 20221206 CTD CTD Direct Evidence: therapeutic PMID:35792220 2279 Cat catalase gene DOID:9002457 Experimental Arthritis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 2279 Cat catalase gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:732740 D RGD:9190810|PMID:18212468 20140825 RGD 2279 Cat catalase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:732740 D RGD:9068906|PMID:17567781 20140822 RGD DNA:SNPs,haplotype:: 2279 Cat catalase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737448 D RGD:9068923|PMID:23179931 20140822 RGD 2279 Cat catalase gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:732740 D RGD:9479160|PMID:18353692 20140827 RGD DNA:SNPs:multiple: 2279 Cat catalase gene DOID:9003106 Renoprival Hypertension IMP D RGD:7206853|PMID:22733796 20130116 RGD 2279 Cat catalase gene DOID:9003507 Premature Birth ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 2279 Cat catalase gene DOID:9003566 Mesothelioma ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11283936 2279 Cat catalase gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732740 D RGD:5130771|PMID:20493834 20110412 RGD protein:decreased expression:plasma 2279 Cat catalase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732740 D RGD:9068474|PMID:21978706 20140820 RGD 2279 Cat catalase gene DOID:9004009 Reperfusion Injury IDA D RGD:5130760|PMID:19196076 20110412 RGD 2279 Cat catalase gene DOID:9004009 Reperfusion Injury IEP D RGD:5130200|PMID:20888583 20110408 RGD 2279 Cat catalase gene DOID:9004009 Reperfusion Injury ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8215636|PMID:16682413|PMID:23743330|PMID:23875703 2279 Cat catalase gene DOID:9004062 Hyperhidrosis ISO RGD:732740 D RGD:9479745|PMID:16718367 20140908 RGD protein:decreased activity:erythrocyte: 2279 Cat catalase gene DOID:9004203 Chromosome Breakage ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25172298 2279 Cat catalase gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:737448 D RGD:9479155|PMID:1747937 20140827 RGD 2279 Cat catalase gene DOID:9004464 Skin Neoplasms treatment ISO RGD:737448 D RGD:9479189|PMID:21517247 20140902 RGD 2279 Cat catalase gene DOID:9004484 Sepsis severity IEP D RGD:9068893|PMID:15836852 20140821 RGD 2279 Cat catalase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21749277|PMID:22580338 2279 Cat catalase gene DOID:9004610 Acute Lung Injury ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15612528 2279 Cat catalase gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:5130755|PMID:19298531 20110412 RGD protein:decreased expression:heart left ventricle 2279 Cat catalase gene DOID:9004673 Hearing Loss, Cisplatin-Induced IEP D RGD:9197256|PMID:10220857 20140825 RGD protein:decreased expression:cochlear: 2279 Cat catalase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17227729 2279 Cat catalase gene DOID:9004989 Protein Deficiency ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 2279 Cat catalase gene DOID:9005452 Ureteral Calculi ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 2279 Cat catalase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5130772|PMID:20376213 20110412 RGD 2279 Cat catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12123627|PMID:15855331|PMID:20709041 2279 Cat catalase gene DOID:9005749 Necrosis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9548797|PMID:17309078 2279 Cat catalase gene DOID:9006024 Hypotension ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15612528 2279 Cat catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:737448|RGD:732740 D RGD:5130770|PMID:21471094 20110412 RGD protein:decreased expression:nasal mucus 2279 Cat catalase gene DOID:9007355 Hashimoto Disease ISO RGD:732740 D RGD:9068926|PMID:20204550 20140822 RGD protein:increased activity:plasma: 2279 Cat catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7241599|PMID:21138988 20190508 RGD protein:decreased expression:liver 2279 Cat catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732740 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25231249 2279 Cat catalase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732740 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:20516118|PMID:21742780|PMID:23518002|PMID:25448439|PMID:27323401|PMID:28881718 2279 Cat catalase gene DOID:9007692 Insulin Resistance ISO RGD:732740 D RGD:5130761|PMID:19188683 20110412 RGD associated with Obesity 2279 Cat catalase gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21252394|PMID:26074427 2279 Cat catalase gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1581149|PMID:11510883 19990101 RGD 2279 Cat catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21600015 2279 Cat catalase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19109989 2279 Cat catalase gene DOID:9008510 Chronic Hepatitis ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 2279 Cat catalase gene DOID:9008939 Breast Neoplasms ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 2279 Cat catalase gene DOID:9009039 Hyperemia ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10792963 2279 Cat catalase gene DOID:9074 systemic lupus erythematosus ISO RGD:732740 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27497885 2279 Cat catalase gene DOID:9111 cutaneous leishmaniasis ISO RGD:732740 D RGD:9479188|PMID:9892499 20140902 RGD protein:decreased activity:erythrocyte: 2279 Cat catalase gene DOID:9182 pemphigus ISO RGD:732740 D RGD:9479165|PMID:22738420 20140829 RGD protein:increased activities:skin: 2279 Cat catalase gene DOID:9201 lichen planus ISO RGD:732740 D RGD:9479158|PMID:20372767 20140827 RGD protein:decreased activity:erythrocyte: 2279 Cat catalase gene DOID:9281 phenylketonuria IEP D RGD:9068874|PMID:23232760 20140821 RGD protein:decreased activity:brain: 2279 Cat catalase gene DOID:9351 diabetes mellitus ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11117918 2279 Cat catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15111504|PMID:15531508 2279 Cat catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068922|PMID:12357295 20140822 RGD protein:decreased activity:plasma: 2279 Cat catalase gene DOID:9452 fatty liver disease IEP D RGD:5130871|PMID:21452373 20110413 RGD protein:decreased expression:liver 2279 Cat catalase gene DOID:9452 fatty liver disease ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 2279 Cat catalase gene DOID:9477 pulmonary embolism ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2510358 2279 Cat catalase gene DOID:9637 stomatitis IEP D RGD:5130878|PMID:10569634 20110413 RGD 2279 Cat catalase gene DOID:9669 senile cataract ISO RGD:732740 D RGD:9068934|PMID:23781296 20140825 RGD protein:decreased activity:serum: 2279 Cat catalase gene DOID:9669 senile cataract treatment ISO RGD:732740 D RGD:10003112|PMID:16129095 20150518 RGD 2279 Cat catalase gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:732740 D RGD:9068932|PMID:10450379 20140825 RGD protein:decreased activity:vitreous humor: 2279 Cat catalase gene DOID:9743 diabetic neuropathy ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10780678 2279 Cat catalase gene DOID:9744 type 1 diabetes mellitus ISO RGD:732740 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15111504 2280 Cav1 caveolin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 2280 Cav1 caveolin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 2280 Cav1 caveolin 1 gene DOID:0060224 atrial fibrillation ISO RGD:619568 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:22544366|PMID:29892015 2280 Cav1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:7240710 20130221 OMIM 2280 Cav1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 PMID:18211975|PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532|PMID:29231014|PMID:31727138|PMID:33264630|PMID:34643546 2280 Cav1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:2289109|PMID:14506154 20080122 RGD protein:increased expression:serum 2280 Cav1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:2289112|PMID:11170154 20080122 RGD DNA:hypermethylation:promoter 2280 Cav1 caveolin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:619568 D RGD:2289104|PMID:15948133 20080122 RGD 2280 Cav1 caveolin 1 gene DOID:10325 silicosis ISO RGD:619568 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 2280 Cav1 caveolin 1 gene DOID:10652 Alzheimer's disease ISS RGD:1553438 D RGD:13592920 20180518 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 2280 Cav1 caveolin 1 gene DOID:1067 open-angle glaucoma ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 2280 Cav1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:8661770|PMID:24572674 20140616 RGD DNA:SNPs: :multiple 2280 Cav1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:8661783|PMID:20835238 20140616 RGD DNA:SNP:promoter:rs4236601 (human) 2280 Cav1 caveolin 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:619568 D RGD:8661776|PMID:22876122 20140616 RGD DNA:SNP:promoter:rs4236601 (human) 2280 Cav1 caveolin 1 gene DOID:10763 hypertension IEP D RGD:2289116|PMID:17986358 20080123 RGD protein:increased expression:artery smooth muscle, blood vessel endothelial cell 2280 Cav1 caveolin 1 gene DOID:10763 hypertension ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1798635 2280 Cav1 caveolin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:619568 D RGD:2289110|PMID:12866378 20080122 RGD protein:increased expression:urinary bladder 2280 Cav1 caveolin 1 gene DOID:11446 sciatic neuropathy IEP D RGD:6784526|PMID:21795534 20120802 RGD protein:decreased expression:spinal cord, blood vessel 2280 Cav1 caveolin 1 gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:1553438 D RGD:13592920 20180518 MouseDO 2280 Cav1 caveolin 1 gene DOID:12689 acoustic neuroma ISO RGD:619568 D RGD:8661782|PMID:20881564 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:127 leiomyoma ISO RGD:619568 D RGD:2296031|PMID:17952758 20080624 RGD protein:increased expression:uterus 2280 Cav1 caveolin 1 gene DOID:13544 low tension glaucoma no_association ISO RGD:619568 D RGD:8661774|PMID:23743525 20140616 RGD DNA:SNP:promoter:rs4236601 (human) 2280 Cav1 caveolin 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:619568 D RGD:8661783|PMID:20835238 20140616 RGD DNA:SNP:promoter:rs4236601 (human) 2280 Cav1 caveolin 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:619568 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2280 Cav1 caveolin 1 gene DOID:1459 hypothyroidism IEP D RGD:6784532|PMID:21611807 20120802 RGD protein:increased expression:cerebellum 2280 Cav1 caveolin 1 gene DOID:1577 limited scleroderma no_association ISO RGD:619568 D RGD:8661768|PMID:22402147 20140616 RGD DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human) 2280 Cav1 caveolin 1 gene DOID:1577 limited scleroderma susceptibility ISO RGD:619568 D RGD:8661768|PMID:22402147 20140616 RGD DNA:SNPs:enhancer, intron:multiple 2280 Cav1 caveolin 1 gene DOID:1580 diffuse scleroderma no_association ISO RGD:619568 D RGD:8661768|PMID:22402147 20190726 RGD DNA:SNPs:enhancer, intron:multiple 2280 Cav1 caveolin 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:619568 D RGD:8661768|PMID:22402147 20190726 RGD DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) 2280 Cav1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:2289105|PMID:15375584 20080122 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast 2280 Cav1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:8661769|PMID:21965771 20140616 RGD DNA:SNPs: :14713G>A (rs3807987), 29107T>A (rs7804372) (human) 2280 Cav1 caveolin 1 gene DOID:1612 breast cancer ISS RGD:1553438 D RGD:13592920 20180518 MouseDO OMIM:114480 2280 Cav1 caveolin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:619568 D RGD:8661766|PMID:21585620 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:1612 breast cancer no_association ISO RGD:619568 D RGD:8661769|PMID:21965771 20140616 RGD DNA:SNPs: :multiple 2280 Cav1 caveolin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1553438 D RGD:8661786|PMID:23267770 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:1909 melanoma disease_progression ISO RGD:619568 D RGD:8661767|PMID:22134245 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:1936 atherosclerosis treatment IEP D RGD:8662275|PMID:23675421 20140618 RGD 2280 Cav1 caveolin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1553438 D RGD:8661794|PMID:22007835 20140617 RGD 2280 Cav1 caveolin 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:8661794|PMID:22007835 20140617 RGD 2280 Cav1 caveolin 1 gene DOID:2316 brain ischemia IEP D RGD:1581152|PMID:16417587 19990101 RGD 2280 Cav1 caveolin 1 gene DOID:2377 multiple sclerosis ISO RGD:619568 D RGD:8661778|PMID:19828204 20140616 RGD DNA:repeats, haplotypes:multiple 2280 Cav1 caveolin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:619568 D RGD:2289103|PMID:16328005 20080122 RGD protein:increased expression:urinary bladder 2280 Cav1 caveolin 1 gene DOID:3008 invasive ductal carcinoma no_association ISO RGD:619568 D RGD:8661779|PMID:21909981 20140616 RGD DNA:missense mutation: :p.P132L (human) 2280 Cav1 caveolin 1 gene DOID:3070 high grade glioma IEP D RGD:6784517|PMID:22528460 20120801 RGD 2280 Cav1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:2289101|PMID:17915016 20080122 RGD protein:increased expression:breast 2280 Cav1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:8661775|PMID:11289096 20140616 RGD DNA:missense mutation: :p.P132L (human) 2280 Cav1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1553438 D RGD:8661773|PMID:18759267 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619568 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 2280 Cav1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 2280 Cav1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:2289113|PMID:11032026 20080123 RGD 2280 Cav1 caveolin 1 gene DOID:418 systemic scleroderma ISO RGD:619568 D RGD:8661773|PMID:18759267 20140616 RGD protein:decreased expression:lung, skin 2280 Cav1 caveolin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:619568 D RGD:8661768|PMID:22402147 20140616 RGD DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) 2280 Cav1 caveolin 1 gene DOID:4450 renal cell carcinoma ISO RGD:619568 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 2280 Cav1 caveolin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619568 D RGD:2289107|PMID:15247769 20080122 RGD protein:increased expression:kidney 2280 Cav1 caveolin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619568 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2280 Cav1 caveolin 1 gene DOID:630 genetic disease ISO RGD:619568 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532 2280 Cav1 caveolin 1 gene DOID:6432 pulmonary hypertension IEP D RGD:1581153|PMID:15353500 19990101 RGD 2280 Cav1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:619568 D RGD:1625360|PMID:17470567 20070605 RGD idiopathic pulmonary arterial hypertension (IPAH) 2280 Cav1 caveolin 1 gene DOID:6432 pulmonary hypertension treatment IEP D RGD:8662276|PMID:23538027 20140618 RGD 2280 Cav1 caveolin 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1553438 D RGD:8661789|PMID:24329494 20140616 RGD associated with Hypertension 2280 Cav1 caveolin 1 gene DOID:8398 osteoarthritis IEP D RGD:10043354|PMID:16508959 20150522 RGD 2280 Cav1 caveolin 1 gene DOID:8893 psoriasis ISO RGD:619568 D RGD:8661784|PMID:12366416 20140616 RGD protein:decreased expression:skin 2280 Cav1 caveolin 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2289124|PMID:17275798 20080123 RGD protein:increased phosphorylation:spinal cord 2280 Cav1 caveolin 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619568 D RGD:8661767|PMID:22134245 20140616 RGD associated with Melanoma 2280 Cav1 caveolin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2280 Cav1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553438 D RGD:2289106|PMID:15355971 20080122 RGD associated with Mammary Neoplasms, Experimental 2280 Cav1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 2280 Cav1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:619568 D RGD:8661780|PMID:15334058 20140616 RGD associated with Mammary Neoplasms, Experimental 2280 Cav1 caveolin 1 gene DOID:9001140 Lipodystrophy with Congenital Cataracts and Neurodegeneration ISO RGD:619568 D RGD:7240710 20141015 OMIM 2280 Cav1 caveolin 1 gene DOID:9001140 Lipodystrophy with Congenital Cataracts and Neurodegeneration ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome PMID:11739396|PMID:18211975|PMID:18237401|PMID:25356970|PMID:25741868|PMID:25898808|PMID:34643546 2280 Cav1 caveolin 1 gene DOID:9001285 Alcoholic Liver Diseases treatment IEP D RGD:8662277|PMID:23764359 20140618 RGD 2280 Cav1 caveolin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2280 Cav1 caveolin 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:619568 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 2280 Cav1 caveolin 1 gene DOID:9002221 Hyperplasia ISO RGD:1553438 D RGD:8661765|PMID:12368209 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1553438 D RGD:2289111|PMID:11751529 20080122 RGD 2280 Cav1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15948133|PMID:22159333 2280 Cav1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1553438 D RGD:2289102|PMID:17786030 20080122 RGD 2280 Cav1 caveolin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:1625364|PMID:17060028 20070605 RGD 2280 Cav1 caveolin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15674352 2280 Cav1 caveolin 1 gene DOID:9003936 Cardiomegaly IEP D RGD:2289120|PMID:17487232 20080123 RGD protein:increased expression:aorta 2280 Cav1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17487232 2280 Cav1 caveolin 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2289123|PMID:17293479 20080123 RGD protein:increased expression:brain 2280 Cav1 caveolin 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:10045573|PMID:24919947 20150611 RGD 2280 Cav1 caveolin 1 gene DOID:9004657 Weight Gain ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2280 Cav1 caveolin 1 gene DOID:9004874 Dermal Fibrosis ISO RGD:1553438 D RGD:8661773|PMID:18759267 20140619 RGD 2280 Cav1 caveolin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:619568 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 2280 Cav1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553438 D RGD:2289100|PMID:9685399 20080122 RGD protein:decreased expression:mammary gland 2280 Cav1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:1553438 D RGD:2289106|PMID:15355971 20080122 RGD 2280 Cav1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:619568 D RGD:8661780|PMID:15334058 20140616 RGD 2280 Cav1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10045572|PMID:25086377 20150611 RGD 2280 Cav1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 2280 Cav1 caveolin 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:2289125|PMID:17234162 20080123 RGD protein:increased phosphorylation:sciatic nerve 2280 Cav1 caveolin 1 gene DOID:9007702 Carcinogenesis ISO RGD:619568 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 2280 Cav1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:7240710 20140911 OMIM 2280 Cav1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:22474227|PMID:25741868|PMID:26387786|PMID:28492532|PMID:29231014|PMID:31727138 2280 Cav1 caveolin 1 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy no_association ISO RGD:619568 D RGD:8661777|PMID:23051628 20140616 RGD DNA:SNP:intron: (rs4730751) (human) 2280 Cav1 caveolin 1 gene DOID:9008217 Hemorrhage IEP D RGD:8661809|PMID:22954805 20140617 RGD protein:decreased expression:myocardium 2280 Cav1 caveolin 1 gene DOID:9008824 Sarcopenia severity ISO RGD:619568 D RGD:10045568|PMID:24815842 20150611 RGD DNA:SNP:intron:14713G>A (rs3807987) (human) 2280 Cav1 caveolin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:619568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19234134|PMID:19288272|PMID:20562527|PMID:21501481 2280 Cav1 caveolin 1 gene DOID:9351 diabetes mellitus ISO RGD:619568 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 2280 Cav1 caveolin 1 gene DOID:9743 diabetic neuropathy ISO RGD:1553438 D RGD:8661787|PMID:19675140 20140616 RGD associated with Diabetes Mellitus, Experimental 2280 Cav1 caveolin 1 gene DOID:9970 obesity IEP D RGD:6784520|PMID:22492718 20120802 RGD 2281 Cav3 caveolin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17897828|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27066573|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 2281 Cav3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:11554173 20190226 CTD CTD Direct Evidence: marker/mechanism PMID:30055862 2281 Cav3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:7240710 20130221 OMIM 2281 Cav3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12557291|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14600260|PMID:14633633|PMID:14663034|PMID:14672715|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:19697367|PMID:19773168|PMID:19835634|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 2281 Cav3 caveolin 3 gene DOID:0070308 rippling muscle disease 1 ISO RGD:1344208 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:11431690|PMID:15668980|PMID:16247063|PMID:21294223|PMID:30055862 2281 Cav3 caveolin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 2281 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:7240710 20130425 OMIM 2281 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:9536092 2281 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 2281 Cav3 caveolin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1344208 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 2281 Cav3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:7240710 20130425 OMIM 2281 Cav3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17576681|PMID:17897828|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:19773168|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:31036801|PMID:31043699|PMID:9536092|PMID:9536098 2281 Cav3 caveolin 3 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1344208 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 2281 Cav3 caveolin 3 gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1344208 D RGD:7240710 20140911 OMIM 2281 Cav3 caveolin 3 gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27061274|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 2281 Cav3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:7240710 20130221 OMIM 2281 Cav3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12082049|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14663034|PMID:14749532|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 2281 Cav3 caveolin 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12847114 2281 Cav3 caveolin 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 2281 Cav3 caveolin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2281 Cav3 caveolin 3 gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:735906 D RGD:13592920 20180518 MouseDO 2281 Cav3 caveolin 3 gene DOID:1682 congenital heart disease ISO RGD:1344208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 2281 Cav3 caveolin 3 gene DOID:2843 long QT syndrome ISO RGD:1344208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18671188|PMID:18930476|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19726876|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27061274|PMID:27066573|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31127727|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 2281 Cav3 caveolin 3 gene DOID:5844 myocardial infarction IEP D RGD:126925221|PMID:29438664 20210517 RGD mRNA, protein; increased expression; myocardium (rat) 2281 Cav3 caveolin 3 gene DOID:5844 myocardial infarction IEP D RGD:1599542|PMID:12566108 20070207 RGD Protein:increased expression:cytosol 2281 Cav3 caveolin 3 gene DOID:630 genetic disease ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2281 Cav3 caveolin 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis onset IEP D RGD:1582168|PMID:15925413 20070207 RGD Protein:increased expression:spinal cord, astrocyte 2281 Cav3 caveolin 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1344208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 2281 Cav3 caveolin 3 gene DOID:9003936 Cardiomegaly ISO RGD:1344208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19299911 2281 Cav3 caveolin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344208 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2281 Cav3 caveolin 3 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1344208 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:14672715|PMID:15318349|PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 2281 Cav3 caveolin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 2281 Cav3 caveolin 3 gene DOID:9007 sudden infant death syndrome ISO RGD:1344208 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532 2281 Cav3 caveolin 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 2281 Cav3 caveolin 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1344208 D RGD:1599529|PMID:9537420 20070207 RGD DNA:missense mutation, deletion 2282 Runx2 RUNX family transcription factor 2 gene DOID:0050328 congenital hypothyroidism ISS RGD:735753 D RGD:13592920 20180518 MouseDO 2282 Runx2 RUNX family transcription factor 2 gene DOID:0060001 withdrawal disorder ISO RGD:1348975 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 2282 Runx2 RUNX family transcription factor 2 gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1348975 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837 2282 Runx2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1348975 D RGD:7240710 20140911 OMIM 2282 Runx2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:10521292|PMID:11857736|PMID:16140555|PMID:23290074|PMID:25741868|PMID:28492532|PMID:29891876 2282 Runx2 RUNX family transcription factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:1348975 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 2282 Runx2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688224|PMID:17022082|PMID:20357738 2282 Runx2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:1601649|PMID:9182765 20070427 RGD DNA:insertion, point mutation:exon:p.W283X (human) 2282 Runx2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:7240710 20130221 OMIM 2282 Runx2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly PMID:10521292|PMID:10545612|PMID:10980549|PMID:11768584|PMID:11857736|PMID:12081718|PMID:12196916|PMID:12424590|PMID:15629837|PMID:15952089|PMID:16221346|PMID:19515746|PMID:19767586|PMID:20648631|PMID:20702542|PMID:21734816|PMID:22023169|PMID:23290074|PMID:24138303|PMID:24222232|PMID:24634175|PMID:25741868|PMID:26380986|PMID:27993330|PMID:28056872|PMID:28492532|PMID:28505335|PMID:28738062|PMID:29891876|PMID:30391578|PMID:31548836|PMID:32360898|PMID:33987976|PMID:9182765|PMID:9207800 2282 Runx2 RUNX family transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:25307878 2282 Runx2 RUNX family transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348975 D RGD:126779568|PMID:18500170 20210408 RGD mRNA:increased expression:esophagus mucosa 2282 Runx2 RUNX family transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348975 D RGD:152995466|PMID:30780105 20220623 RGD human cells in mouse model 2282 Runx2 RUNX family transcription factor 2 gene DOID:4676 uremia ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 2282 Runx2 RUNX family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521292|PMID:20648631|PMID:25741868|PMID:28492532 2282 Runx2 RUNX family transcription factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2282 Runx2 RUNX family transcription factor 2 gene DOID:8398 osteoarthritis ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2282 Runx2 RUNX family transcription factor 2 gene DOID:9000380 Spondylarthritis ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2282 Runx2 RUNX family transcription factor 2 gene DOID:9002589 Bone Fractures IEP D RGD:11252151|PMID:21252473 20160627 RGD 2282 Runx2 RUNX family transcription factor 2 gene DOID:9003295 Heterotopic Ossification IMP D RGD:12880052|PMID:19940863 20170502 RGD 2282 Runx2 RUNX family transcription factor 2 gene DOID:9004912 Hyperoxaluria IEP D RGD:11251713|PMID:26122267 20160617 RGD mRNA:increased expression:kidney 2282 Runx2 RUNX family transcription factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348975 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 2282 Runx2 RUNX family transcription factor 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1348975 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 2282 Runx2 RUNX family transcription factor 2 gene DOID:9006733 Stomatognathic System Abnormalities ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357738 2282 Runx2 RUNX family transcription factor 2 gene DOID:9008 psoriatic arthritis ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 2282 Runx2 RUNX family transcription factor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348975 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 2282 Runx2 RUNX family transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 2282 Runx2 RUNX family transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1348975 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 2282 Runx2 RUNX family transcription factor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:1348975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 2282 Runx2 RUNX family transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1348975 D RGD:126779569|PMID:25925209 20210408 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 2283 Runx1 RUNX family transcription factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:736526 D RGD:1304428|PMID:12937148 20120507 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:30309966 D RGD:126779566|PMID:29747153 20210408 RGD mRNA:increased expression:colon 2283 Runx1 RUNX family transcription factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 2283 Runx1 RUNX family transcription factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:30309966 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:18723428|PMID:25741868 2283 Runx1 RUNX family transcription factor 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:736526 D RGD:11251705|PMID:17910630 20160617 RGD DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple 2283 Runx1 RUNX family transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:30309966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2283 Runx1 RUNX family transcription factor 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:30309966 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome PMID:10068652|PMID:12200707|PMID:15156185|PMID:23817177|PMID:28492532 2283 Runx1 RUNX family transcription factor 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:30309966 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 2283 Runx1 RUNX family transcription factor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:736527 D RGD:11251691|PMID:15784726 20160616 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:30309966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2283 Runx1 RUNX family transcription factor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735 2283 Runx1 RUNX family transcription factor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma onset ISO RGD:736526 D RGD:6482828|PMID:21822204 20120504 RGD DNA:amplification 2283 Runx1 RUNX family transcription factor 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma disease_progression ISO RGD:736527 D RGD:11251707|PMID:12499254 20160617 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:30309966 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 2283 Runx1 RUNX family transcription factor 1 gene DOID:0111152 multicentric Castleman disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TAFRO syndrome PMID:25741868|PMID:28492532|PMID:31309983|PMID:32051554|PMID:33692461 2283 Runx1 RUNX family transcription factor 1 gene DOID:1037 lymphoid leukemia ISO RGD:736526 D RGD:10450724|PMID:9539781 20160120 RGD DNA:translocation: : 2283 Runx1 RUNX family transcription factor 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:30309966 D RGD:126775146|PMID:15386419 20210406 RGD mRNA:decreased expression:stomach 2283 Runx1 RUNX family transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736526 D RGD:6482829|PMID:20946940 20120504 RGD associated with Down Syndrome 2283 Runx1 RUNX family transcription factor 1 gene DOID:11446 sciatic neuropathy ISO RGD:736527 D RGD:6482827|PMID:22216140 20120504 RGD mRNA:decreased expression:dorsal root ganglion 2283 Runx1 RUNX family transcription factor 1 gene DOID:12450 pancytopenia ISO RGD:30309966 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:31064749 2283 Runx1 RUNX family transcription factor 1 gene DOID:1380 endometrial cancer ISO RGD:30309966 D RGD:126775148|PMID:33408517 20210406 RGD mRNA:decreased expression:endometrium 2283 Runx1 RUNX family transcription factor 1 gene DOID:1588 thrombocytopenia ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10068652|PMID:10508512|PMID:10973259|PMID:11830488|PMID:12002768|PMID:16199547|PMID:17485549|PMID:17650443|PMID:18723428|PMID:19357396|PMID:22012064|PMID:22318203|PMID:23751892|PMID:24100448|PMID:25741868|PMID:25840971|PMID:26316320|PMID:27112265|PMID:27418648|PMID:27479822|PMID:27931139|PMID:28102861|PMID:28240786|PMID:28492532|PMID:31064749|PMID:31698193|PMID:32098966|PMID:32208489|PMID:32581362|PMID:32935436 2283 Runx1 RUNX family transcription factor 1 gene DOID:1588 thrombocytopenia ISO RGD:736527 D RGD:11251691|PMID:15784726 20160616 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:2213 hemorrhagic disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10068652|PMID:11830488|PMID:12002768|PMID:17485549|PMID:17650443|PMID:19357396|PMID:22012064|PMID:25741868|PMID:26316320|PMID:27112265|PMID:27479822|PMID:28492532|PMID:31064749|PMID:31698193|PMID:32208489|PMID:32581362|PMID:32935436 2283 Runx1 RUNX family transcription factor 1 gene DOID:2218 blood platelet disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:10508512|PMID:11830488|PMID:22012064|PMID:23848403|PMID:25741868|PMID:25840971|PMID:26175287|PMID:26916619|PMID:27210295|PMID:28492532|PMID:28960434|PMID:31048839 2283 Runx1 RUNX family transcription factor 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:30309966 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868|PMID:31064749 2283 Runx1 RUNX family transcription factor 1 gene DOID:2841 asthma ISO RGD:736526 D RGD:6482835|PMID:21803869 20120507 RGD DNA:SNPs: :multiple 2283 Runx1 RUNX family transcription factor 1 gene DOID:289 endometriosis IEP D RGD:2303708|PMID:17845203 20090317 RGD mRNA:increased expression:endometrium 2283 Runx1 RUNX family transcription factor 1 gene DOID:3033 colon signet ring adenocarcinoma ISO RGD:30309966 D RGD:126779566|PMID:29747153 20210408 RGD mRNA:increased expression:colon 2283 Runx1 RUNX family transcription factor 1 gene DOID:3068 glioblastoma ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 2283 Runx1 RUNX family transcription factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736527 D RGD:6482832|PMID:18000159 20120507 RGD mRNA:increased expression:skeletal muscle 2283 Runx1 RUNX family transcription factor 1 gene DOID:3525 middle cerebral artery infarction IAGP D RGD:11251714|PMID:24672479 20160617 RGD mRNA:increased expression:brain 2283 Runx1 RUNX family transcription factor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:30309966 D RGD:126775149|PMID:30666517 20210406 RGD DNA:SNP: :rs2014300 (human) 2283 Runx1 RUNX family transcription factor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:30309966 D RGD:126779572|PMID:26685324 20210408 RGD mRNA:alternative form:lung 2283 Runx1 RUNX family transcription factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:30309966 D RGD:126779571|PMID:28926105 20210408 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:417 autoimmune disease ISO RGD:736527 D RGD:6482826|PMID:22551552 20120504 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:30309966 D RGD:126775143|PMID:31015363 20210406 RGD mRNA:increased expression:intrahepatic bile duct 2283 Runx1 RUNX family transcription factor 1 gene DOID:5074 high grade ependymoma ISO RGD:30309966 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant ependymoma PMID:23753029|PMID:25741868|PMID:26580448|PMID:28492532|PMID:28801348|PMID:29365323 2283 Runx1 RUNX family transcription factor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:736527 D RGD:11251682|PMID:16051740 20160616 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:736526 D RGD:11251708|PMID:21828118 20160617 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:5889 anaplastic ependymoma ISO RGD:30309966 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:23753029|PMID:25741868|PMID:26580448|PMID:28492532|PMID:28801348|PMID:29365323 2283 Runx1 RUNX family transcription factor 1 gene DOID:630 genetic disease ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2283 Runx1 RUNX family transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:30309966 D RGD:126775147|PMID:17094378 20210406 RGD mRNA:decreased expression:liver 2283 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 2283 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736526 D RGD:6482836|PMID:20018071 20120507 RGD DNA:SNPs: :rs2242720, rs4816502 (human) 2283 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:6482837|PMID:16821265 20120507 RGD DNA:SNP 2283 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:6482839|PMID:18328148 20120507 RGD DNA:SNP:intron:24658G>C (human) 2283 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:6482840|PMID:18087673 20120507 RGD DNA:SNP: :rs2268277 (human) 2283 Runx1 RUNX family transcription factor 1 gene DOID:8761 acute megakaryocytic leukemia onset ISO RGD:736527 D RGD:11251701|PMID:15856017 20160616 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:30309966 D RGD:126779567|PMID:21636701 20210408 RGD associated with Carcinoid Tumor 2283 Runx1 RUNX family transcription factor 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:736527 D RGD:126775145|PMID:22171576 20210406 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17909013 2283 Runx1 RUNX family transcription factor 1 gene DOID:9002589 Bone Fractures IEP D RGD:11252151|PMID:21252473 20160627 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:30309966 D RGD:7240710 20200624 OMIM 2283 Runx1 RUNX family transcription factor 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:30309966 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like PMID:10068652|PMID:10508512|PMID:10594034|PMID:10973259|PMID:11276260|PMID:11830488|PMID:12002768|PMID:12060124|PMID:12172547|PMID:12200707|PMID:12377125|PMID:12393679|PMID:12807882|PMID:12874780|PMID:14504086|PMID:15156185|PMID:15749889|PMID:16199547|PMID:17234761|PMID:17290219|PMID:17485549|PMID:17576681|PMID:17650443|PMID:18478040|PMID:18487507|PMID:18723428|PMID:19357396|PMID:19387465|PMID:19448675|PMID:1958483|PMID:19679353|PMID:19808697|PMID:19946261|PMID:20549580|PMID:20722699|PMID:20846103|PMID:20880108|PMID:20955399|PMID:21626672|PMID:21725049|PMID:21880633|PMID:22012064|PMID:22318203|PMID:22689681|PMID:22898599|PMID:23751892|PMID:23753029|PMID:23817177|PMID:23848403|PMID:24100448|PMID:24374719|PMID:24523240|PMID:24616160|PMID:24659740|PMID:24732596|PMID:24853048|PMID:25159113|PMID:25490895|PMID:25640679|PMID:25741868|PMID:25840971|PMID:26175287|PMID:26316320|PMID:26525156|PMID:26580448|PMID:26884589|PMID:26916619|PMID:27106701|PMID:27112265|PMID:27137476|PMID:27210295|PMID:27294619|PMID:27418648|PMID:27479822|PMID:27931139|PMID:28102861|PMID:28179279|PMID:28231333|PMID:28240786|PMID:28492532|PMID:28513614|PMID:28659335|PMID:28748566|PMID:28801348|PMID:28855357|PMID:28933735|PMID:28960434|PMID:29055018|PMID:29146883|PMID:29365323|PMID:29666006|PMID:30990344|PMID:31034769|PMID:31048839|PMID:31064749|PMID:31135094|PMID:31245275|PMID:31289210|PMID:31309983|PMID:31470354|PMID:31648317|PMID:31698193|PMID:31876204|PMID:31989091|PMID:32051554|PMID:32208489|PMID:32315381|PMID:32570879|PMID:32581362|PMID:32935436|PMID:33075818|PMID:33692461|PMID:34166225|PMID:34355501|PMID:9536098|PMID:9606182|PMID:9837750 2283 Runx1 RUNX family transcription factor 1 gene DOID:9004441 Experimental Leukemia treatment ISO RGD:736527 D RGD:11251683|PMID:19236814 20160617 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:126779584|PMID:29435983 20210409 RGD mRNA:increased expression:mammary gland 2283 Runx1 RUNX family transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:736526 D RGD:11251709|PMID:9763573 20160617 RGD DNA:translocations:intron:multiple 2283 Runx1 RUNX family transcription factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:30309966 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12172547|PMID:22012064|PMID:23753029|PMID:23817177|PMID:25741868|PMID:25840971|PMID:26580448|PMID:27106701|PMID:28492532|PMID:28801348|PMID:29365323|PMID:31135094|PMID:31289210|PMID:31876204|PMID:32315381|PMID:32935436|PMID:34166225 2283 Runx1 RUNX family transcription factor 1 gene DOID:9007921 Spina Bifida Cystica treatment IDA D RGD:11251712|PMID:26172505 20160617 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625|PMID:30420649 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:7240710 20200624 OMIM 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia PMID:10068652|PMID:10508512|PMID:11276260|PMID:12200707|PMID:12377125|PMID:12393679|PMID:12807882|PMID:15156185|PMID:19357396|PMID:19387465|PMID:19808697|PMID:20549580|PMID:20722699|PMID:20880108|PMID:23817177|PMID:24374719|PMID:24616160|PMID:24659740|PMID:24764152|PMID:24904105|PMID:25741868|PMID:27294619|PMID:28231333|PMID:28492532|PMID:28513614|PMID:29365323|PMID:31064749|PMID:32098966|PMID:32581362|PMID:34355501 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:30309966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, m0 subtype PMID:10068652|PMID:10508512|PMID:11276260|PMID:12200707|PMID:12377125|PMID:12393679|PMID:12807882|PMID:15156185|PMID:16199547|PMID:17234761|PMID:18723428|PMID:19357396|PMID:19387465|PMID:19808697|PMID:20549580|PMID:20722699|PMID:20880108|PMID:23817177|PMID:24100448|PMID:24374719|PMID:24523240|PMID:24616160|PMID:24659740|PMID:25741868|PMID:25840971|PMID:27112265|PMID:27294619|PMID:28231333|PMID:28492532|PMID:28513614|PMID:29365323|PMID:31034769|PMID:31064749|PMID:32098966|PMID:32315381|PMID:32581362|PMID:34166225 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736526 D RGD:11251692|PMID:11023523 20160616 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736526 D RGD:11251704|PMID:19808697 20160617 RGD DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple 2283 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736526 D RGD:6482833|PMID:12760263 20120507 RGD DNA:translocation 2283 Runx1 RUNX family transcription factor 1 gene DOID:9256 colorectal cancer ISO RGD:30309966 D RGD:126779569|PMID:25925209 20210408 RGD 2283 Runx1 RUNX family transcription factor 1 gene DOID:9538 multiple myeloma ISO RGD:736526 D RGD:6482834|PMID:12560229 20120507 RGD mRNA:splice variant 2283 Runx1 RUNX family transcription factor 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:30309966 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 2286 Cbr1 carbonyl reductase 1 gene DOID:0050700 cardiomyopathy ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:11016643 2286 Cbr1 carbonyl reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2286 Cbr1 carbonyl reductase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2286 Cbr1 carbonyl reductase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2286 Cbr1 carbonyl reductase 1 gene DOID:0080600 COVID-19 ISO RGD:737546 D RGD:9068941 20230225 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2286 Cbr1 carbonyl reductase 1 gene DOID:1588 thrombocytopenia ISO RGD:737546 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 2286 Cbr1 carbonyl reductase 1 gene DOID:2772 irritant dermatitis ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: therapeutic PMID:25818598 2286 Cbr1 carbonyl reductase 1 gene DOID:630 genetic disease ISO RGD:737546 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2286 Cbr1 carbonyl reductase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 2286 Cbr1 carbonyl reductase 1 gene DOID:783 end stage renal disease ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:26282591 2286 Cbr1 carbonyl reductase 1 gene DOID:784 chronic kidney disease IEP D RGD:11565077|PMID:25332430 20161117 RGD mRNA, protein:decreased expression:liver 2286 Cbr1 carbonyl reductase 1 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:737546 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 2286 Cbr1 carbonyl reductase 1 gene DOID:9000972 Fever IEP D RGD:2316279|PMID:12399253 20161117 RGD mRNA:decreased expression:liver, lung 2286 Cbr1 carbonyl reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2286 Cbr1 carbonyl reductase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737546 D RGD:11554173 20230301 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 2286 Cbr1 carbonyl reductase 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:737546 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 2286 Cbr1 carbonyl reductase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302233|PMID:18452227 20100203 RGD protein:decreased expression:pancreas (rat) 2287 Cbs cystathionine beta synthase gene DOID:0050731 vitamin B12 deficiency IEP D RGD:40903037|PMID:2732804 20210106 RGD protein:decreased expression:liver (rat) 2287 Cbs cystathionine beta synthase gene DOID:0060041 autism spectrum disorder ISO RGD:737316 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2287 Cbs cystathionine beta synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:737316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 2287 Cbs cystathionine beta synthase gene DOID:0080074 neural tube defect ISO RGD:737316 D RGD:9068941 20220825 RGD DNA:polymorphism:677C > T PMID:12649066|REF_RGD_ID:1600627 2287 Cbs cystathionine beta synthase gene DOID:0080074 neural tube defect no_association ISO RGD:737316 D RGD:1600627|PMID:12649066 20070321 RGD DNA:polymorphism:677C > T 2287 Cbs cystathionine beta synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 2287 Cbs cystathionine beta synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 2287 Cbs cystathionine beta synthase gene DOID:1059 intellectual disability ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10328723|PMID:10338090|PMID:10364517|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12552044|PMID:1301198|PMID:14722927|PMID:15146473|PMID:15192637|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:28583326|PMID:33057012|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8528202|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9708897|PMID:9790750|PMID:9864922 2287 Cbs cystathionine beta synthase gene DOID:10763 hypertension ISO RGD:737316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 2287 Cbs cystathionine beta synthase gene DOID:12365 malaria susceptibility ISO RGD:737316 D RGD:40903062|PMID:27198213 20210107 RGD DNA:insertion:cds: (844ins68) (human) 2287 Cbs cystathionine beta synthase gene DOID:1287 cardiovascular system disease ISO RGD:737316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16791140 2287 Cbs cystathionine beta synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 2287 Cbs cystathionine beta synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 2287 Cbs cystathionine beta synthase gene DOID:1909 melanoma ISO RGD:737316 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 2287 Cbs cystathionine beta synthase gene DOID:224 transient cerebral ischemia ISO RGD:10297 D RGD:41410880|PMID:22212488 20210217 RGD XCO:0000348 2287 Cbs cystathionine beta synthase gene DOID:224 transient cerebral ischemia treatment ISO RGD:10297 D RGD:41410880|PMID:22212488 20210217 RGD XCO:0000807 2287 Cbs cystathionine beta synthase gene DOID:3393 coronary artery disease ISO RGD:737316 D RGD:1600626|PMID:12855221 20070321 RGD CBS variant c.844ins68 2287 Cbs cystathionine beta synthase gene DOID:399 tuberculosis ISO RGD:10297 D RGD:40903052|PMID:31992699 20210107 RGD protein:increased expression:macrophages (mouse) 2287 Cbs cystathionine beta synthase gene DOID:399 tuberculosis severity ISO RGD:10297 D RGD:40903052|PMID:31992699 20210107 RGD 2287 Cbs cystathionine beta synthase gene DOID:630 genetic disease ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338090|PMID:10363126|PMID:11204591|PMID:12124992|PMID:12815602|PMID:15365998|PMID:15993874|PMID:16205833|PMID:16429402|PMID:16470595|PMID:16479318|PMID:19906435|PMID:20506325|PMID:20601281|PMID:21240075|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22267502|PMID:24033266|PMID:24138954|PMID:25218699|PMID:25336647|PMID:25741868|PMID:27681349|PMID:28492532|PMID:29352562|PMID:31301157|PMID:32232970|PMID:32245022|PMID:32769498|PMID:33335839|PMID:35281663|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456 2287 Cbs cystathionine beta synthase gene DOID:65 connective tissue disease ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10328723|PMID:10338090|PMID:10364517|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12124992|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722927|PMID:15146473|PMID:15192637|PMID:15494741|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21062078|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22267502|PMID:22612060|PMID:23592311|PMID:24033266|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28152038|PMID:28492532|PMID:28583326|PMID:29205322|PMID:29650765|PMID:30165906|PMID:30380942|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32245022|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9708897|PMID:9790750|PMID:9864922 2287 Cbs cystathionine beta synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:737316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 2287 Cbs cystathionine beta synthase gene DOID:9003619 Homocystinuria, Pyridoxine-Responsive ISO RGD:737316 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19232736|PMID:19819175|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:21626167|PMID:22069143|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22985361|PMID:23592311|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28488385|PMID:28492532|PMID:28583326|PMID:29650765|PMID:30050925|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8990018|PMID:9361025|PMID:9587029|PMID:9708897|PMID:9790750|PMID:9864922 2287 Cbs cystathionine beta synthase gene DOID:9004484 Sepsis susceptibility ISO RGD:737316 D RGD:40903018|PMID:26508567 20210104 RGD DNA:SNP:intron (rs6586282, rs34758144) (human) 2287 Cbs cystathionine beta synthase gene DOID:9005695 Malnutrition ISO RGD:737316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 2287 Cbs cystathionine beta synthase gene DOID:9005729 Chronic Experimental Pancreatitis IEP D RGD:38456012|PMID:27778022 20210106 RGD protein:increased expression:arcuate nucleus (rat) 2287 Cbs cystathionine beta synthase gene DOID:9005930 Endotoxemia IEP D RGD:40903049|PMID:16100527 20210106 RGD mRNA:increased expression:liver (rat) 2287 Cbs cystathionine beta synthase gene DOID:9005930 Endotoxemia ISO RGD:10297 D RGD:40903019|PMID:27748832 20210105 RGD 2287 Cbs cystathionine beta synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:40903019|PMID:27748832 20210105 RGD Protein:increased expression:spleen, lung (mouse) 2287 Cbs cystathionine beta synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:40903035|PMID:24702258 20210106 RGD 2287 Cbs cystathionine beta synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:1600622|PMID:7506602 20070320 RGD DNA:point mutation:exon:G307S 2287 Cbs cystathionine beta synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:7240710 20130221 OMIM 2287 Cbs cystathionine beta synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11522031|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12379655|PMID:12552044|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22382802|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:24990611|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25640679|PMID:25741868|PMID:25939784|PMID:26464485|PMID:26667307|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29590070|PMID:29600437|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30246729|PMID:30380942|PMID:30556376|PMID:30732165|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31240737|PMID:31279624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32768567|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33985475|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:35281663|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017 2287 Cbs cystathionine beta synthase gene DOID:9279 hyperhomocysteinemia IEP D RGD:1600624|PMID:16636197 20070320 RGD mRNA:decreased expression, protein:decreased expression 2287 Cbs cystathionine beta synthase gene DOID:9279 hyperhomocysteinemia ISO RGD:737316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17292331|PMID:19028542|PMID:19204075 2287 Cbs cystathionine beta synthase gene DOID:9279 hyperhomocysteinemia ISO RGD:737316 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hyperhomocysteinemia PMID:12686134|PMID:16205833|PMID:16479318|PMID:21517828|PMID:22267502|PMID:22977242|PMID:25741868|PMID:28492532|PMID:7762555 2287 Cbs cystathionine beta synthase gene DOID:9279 hyperhomocysteinemia susceptibility ISO RGD:737316 D RGD:40903036|PMID:10704624 20210106 RGD associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) 2287 Cbs cystathionine beta synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 2287 Cbs cystathionine beta synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2287 Cbs cystathionine beta synthase gene DOID:9778 irritable bowel syndrome severity ISO RGD:10297 D RGD:40903054|PMID:27472293 20210107 RGD 2288 Cck cholecystokinin gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:737505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 2288 Cck cholecystokinin gene DOID:10808 gastric ulcer ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9872509|PMID:10422768|PMID:10458643|PMID:11025360|PMID:11787760|PMID:15024038 2288 Cck cholecystokinin gene DOID:11981 morbid obesity ISO RGD:737505 D RGD:1625798|PMID:17443025 20070706 RGD 2288 Cck cholecystokinin gene DOID:14330 Parkinson's disease ISO RGD:737505 D RGD:1626086|PMID:10668930 20070709 RGD 2288 Cck cholecystokinin gene DOID:14330 Parkinson's disease no_association ISO RGD:737505 D RGD:9068941 20200609 RGD PMID:10668930|REF_RGD_ID:1626086 2288 Cck cholecystokinin gene DOID:3602 toxic encephalopathy ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2288 Cck cholecystokinin gene DOID:409 liver disease ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2288 Cck cholecystokinin gene DOID:4989 pancreatitis ISO RGD:737505 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:16187300|PMID:16499907 2288 Cck cholecystokinin gene DOID:630 genetic disease ISO RGD:737505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2288 Cck cholecystokinin gene DOID:77 gastrointestinal system disease ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7481522 2288 Cck cholecystokinin gene DOID:83 cataract IDA D RGD:2313636|PMID:16989746 20091006 RGD associated with Diabetes Mellitus, Experimental 2288 Cck cholecystokinin gene DOID:9000641 Pain IDA D RGD:2313635|PMID:17157334 20091006 RGD 2288 Cck cholecystokinin gene DOID:9000972 Fever ISO RGD:737505 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27565679 2288 Cck cholecystokinin gene DOID:9001109 Anorexia ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:24385417 2288 Cck cholecystokinin gene DOID:9002211 Hyperalgesia IDA D RGD:1626108|PMID:15647484 20070711 RGD 2288 Cck cholecystokinin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737505 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27565679 2288 Cck cholecystokinin gene DOID:9002362 Hyperkinesis ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3561887|PMID:3735805 2288 Cck cholecystokinin gene DOID:9003126 Hallucinations ISO RGD:737505 D RGD:1625802|PMID:12777967 20070706 RGD associated with Parkinson Disease;DNA:polymorphism, haplogype:promoter:-45C>T (human) 2288 Cck cholecystokinin gene DOID:9003805 Catalepsy ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2862602|PMID:4040614 2288 Cck cholecystokinin gene DOID:9004099 Bulimia ISO RGD:737505 D RGD:1625799|PMID:8988922 20070706 RGD 2288 Cck cholecystokinin gene DOID:9005372 Inflammation ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14599722 2288 Cck cholecystokinin gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2313638|PMID:15536283 20091006 RGD 2288 Cck cholecystokinin gene DOID:9006113 Gallstones ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1631261 2288 Cck cholecystokinin gene DOID:9006646 Metabolic Syndrome ISO RGD:737505 D RGD:1625798|PMID:17443025 20070706 RGD 2288 Cck cholecystokinin gene DOID:9007650 Unconsciousness ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6281507 2288 Cck cholecystokinin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:737505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2320253 2289 Cckar cholecystokinin A receptor gene DOID:10211 cholelithiasis ISO RGD:731770 D RGD:2314139|PMID:15908333 20091102 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle 2289 Cckar cholecystokinin A receptor gene DOID:1574 alcohol use disorder ISO RGD:731770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 2289 Cckar cholecystokinin A receptor gene DOID:1793 pancreatic cancer IEP D RGD:4110822|PMID:8222074 20100818 RGD mRNA:increased expression:pancreas 2289 Cckar cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:731770 D RGD:4110817|PMID:10457335 20100818 RGD mRNA:increased expression:pancreas 2289 Cckar cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:4110816|PMID:12851875 20100818 RGD protein:decreased expression:pancreas 2289 Cckar cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:4110818|PMID:9239407 20100818 RGD mRNA:increased expression:pancreatic duct 2289 Cckar cholecystokinin A receptor gene DOID:630 genetic disease ISO RGD:731770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2289 Cckar cholecystokinin A receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25025063 2289 Cckar cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:1358451|PMID:10572328 19990101 RGD associated with Schizophrenia 2289 Cckar cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:1625802|PMID:12777967 20150908 RGD associated with Parkinson Disease;DNA:polymorphism, haplotype: :779T>C (human) 2289 Cckar cholecystokinin A receptor gene DOID:9352 type 2 diabetes mellitus IAGP D RGD:1625200|PMID:16815799 20070529 RGD DNA:deletion 2289 Cckar cholecystokinin A receptor gene DOID:9970 obesity IAGP D RGD:7257724|PMID:9530226 20070529 RGD DNA:deletion 2289 Cckar cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:731770 D RGD:734711|PMID:9192855 19990101 RGD 2289982 Bp303 Blood pressure QTL 303 qtl DOID:9006024 Hypotension IAGP D RGD:1643425|PMID:18175179 20080221 RGD 2289983 Bp304 Blood pressure QTL 304 qtl DOID:9006024 Hypotension IAGP D RGD:1643425|PMID:18175179 20080221 RGD 2289985 Bp305 Blood pressure QTL 305 qtl DOID:9006024 Hypotension IAGP D RGD:1643425|PMID:18175179 20080221 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:0060001 withdrawal disorder ISO RGD:735565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9496717|PMID:11880531 2290 Cckbr cholecystokinin B receptor gene DOID:0060180 colitis IMP D RGD:2311333|PMID:15102523 20090707 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:10933 obsessive-compulsive disorder ISO RGD:735565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 2290 Cckbr cholecystokinin B receptor gene DOID:14115 toxic shock syndrome IEP D RGD:2311332|PMID:15948246 20090707 RGD mRNA:increased expression:myocardium 2290 Cckbr cholecystokinin B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735565 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2290 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer IDA D RGD:4110821|PMID:1458479 20100818 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer IEP D RGD:4110822|PMID:8222074 20100818 RGD mRNA:increased expression:pancreas 2290 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer disease_progression IEP D RGD:4110823|PMID:8302799 20100818 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735565 D RGD:4110829|PMID:15688412 20100818 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735565 D RGD:4110816|PMID:12851875 20100818 RGD protein:decreased expression:pancreas 2290 Cckbr cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 2290 Cckbr cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:1358454|PMID:15354400 19990101 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:630 genetic disease ISO RGD:735565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2290 Cckbr cholecystokinin B receptor gene DOID:9000641 Pain IMP D RGD:2311323|PMID:16527403 20090707 RGD associated with Diabetes Mellitus, Experimental 2290 Cckbr cholecystokinin B receptor gene DOID:9002211 Hyperalgesia IMP D RGD:1626108|PMID:15647484 20110712 RGD 2290 Cckbr cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:735565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11880531 2290 Cckbr cholecystokinin B receptor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 2290 Cckbr cholecystokinin B receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1358452|PMID:15161757 20090707 RGD mRNA, protein:decreased expression:pancreas 2290005 Mcs24 Mammary carcinoma susceptibility QTL 24 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:1601189|PMID:17404222 20080222 RGD 2290007 Mcs23 Mammary carcinoma susceptibility QTL 23 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:1601189|PMID:17404222 20080222 RGD 2290039 Jmjd7 jumonji domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2298734 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2290039 Jmjd7 jumonji domain containing 7 gene DOID:630 genetic disease ISO RGD:2298734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2290039 Jmjd7 jumonji domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2298734 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2290060 Trpc4Tn(sb-T2/Bart3)2.192Mcwi transient receptor potential cation channel, subfamily C, member 4; transposon insertion 2.192, Medical College of Wisconsin gene DOID:9008820 Visceral Pain IMP D RGD:13825245|PMID:24388923 20181130 RGD 2290064 F344-Trpc4Tn(sb-T2/Bart3)2.192Mcwi strain DOID:9008820 Visceral Pain IMP D RGD:13825245|PMID:24388923 20181130 RGD 2290186 SD-Tg(SOD1*G93A)39 strain DOID:332 amyotrophic lateral sclerosis MODEL IMP D RGD:2290184|PMID:11717358 20080228 RGD human transgene in rat model 2290186 SD-Tg(SOD1*G93A)39 strain DOID:607 paraplegia IMP D RGD:2290184|PMID:11717358 20080228 RGD 2290187 SD-Tg(SOD1*H46R)4 strain DOID:332 amyotrophic lateral sclerosis MODEL IMP D RGD:2290184|PMID:11717358 20080228 RGD human transgene in rat model 2290187 SD-Tg(SOD1*H46R)4 strain DOID:607 paraplegia IMP D RGD:2290184|PMID:11717358 20080228 RGD 2290298 SHR-Tg(Thy1-MAPT)318 strain DOID:10652 Alzheimer's disease MODEL IMP D RGD:2290296|PMID:16753151 20080305 RGD 2290299 SHR-Tg(Thy1-MAPT)72 strain DOID:10652 Alzheimer's disease MODEL IMP D RGD:2290296|PMID:16753151 20080305 RGD 2290311 SD-Tg(SOD1*G93A)26Dwc strain DOID:332 amyotrophic lateral sclerosis MODEL: spontaneous IMP D RGD:729817|PMID:11818550 20080307 RGD 2290311 SD-Tg(SOD1*G93A)26Dwc strain DOID:767 muscular atrophy IMP D RGD:729817|PMID:11818550 20080307 RGD 2290311 SD-Tg(SOD1*G93A)26Dwc strain DOID:9007402 Gliosis IMP D RGD:729817|PMID:11818550 20080307 RGD 2290372 Gluco33 Glucose level QTL 33 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:1626640|PMID:17213368 20080311 RGD on diabetogenic diet 2290374 Gluco32 Glucose level QTL 32 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:1626640|PMID:17213368 20080311 RGD on diabetogenic diet 2290375 Gluco34 Glucose level QTL 34 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:1626640|PMID:17213368 20080311 RGD on diabetogenic diet 2290387 SD-Tg(UbC-APPswe)6590 strain DOID:10652 Alzheimer's disease MODEL:spontaneous IMP D RGD:2290385|PMID:17506994 20080311 RGD human transgene in a rat model 2290393 Uae37 Urinary albumin excretion QTL 37 qtl DOID:9001542 Albuminuria IDA D RGD:1642911|PMID:17953514 20080311 RGD 2290429 SS-Tg(ApoC3-CETP)53Opaz strain DOID:1936 atherosclerosis IAGP D RGD:2290427|PMID:10581080 20200323 RGD 2290429 SS-Tg(ApoC3-CETP)53Opaz strain DOID:3393 coronary artery disease MODEL IAGP D RGD:2290427|PMID:10581080 20080313 RGD 2290429 SS-Tg(ApoC3-CETP)53Opaz strain DOID:5844 myocardial infarction IAGP D RGD:2290427|PMID:10581080 20200323 RGD 2290429 SS-Tg(ApoC3-CETP)53Opaz strain DOID:9000808 Hypercholesterolemia IAGP D RGD:2290427|PMID:10581080 20080313 RGD compared to SS/JrHsd 2290429 SS-Tg(ApoC3-CETP)53Opaz strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:2290427|PMID:10581080 20080313 RGD compared to SS/JrHsd 2290448 Scl54 Serum cholesterol level QTL 54 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:2290428|PMID:17620956 20080313 RGD 2290450 Scl57 Serum cholesterol level QTL 57 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:2290428|PMID:17620956 20080313 RGD 2290451 Scl58 Serum cholesterol level QTL 58 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:2290428|PMID:17620956 20080313 RGD 2290452 Scl56 Serum cholesterol level QTL 56 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:2290428|PMID:17620956 20080313 RGD 2290453 Scl55 Serum cholesterol level QTL 55 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:2290428|PMID:17620956 20080313 RGD tends to decrease 2291 Ccnb1 cyclin B1 gene DOID:0060058 lymphoma ISO RGD:735742 D RGD:2315935|PMID:19666607 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:0080600 COVID-19 ISO RGD:733179 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2291 Ccnb1 cyclin B1 gene DOID:10283 prostate cancer ISO RGD:733179 D RGD:2293596|PMID:18006855 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:11132 prostatic hypertrophy ISO RGD:735742 D RGD:2315046|PMID:12670908 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:733179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2291 Ccnb1 cyclin B1 gene DOID:11832 visual epilepsy IEP D RGD:2315994|PMID:16242239 20100121 RGD protein:increased expression:hippocampus CA1, neuron 2291 Ccnb1 cyclin B1 gene DOID:1612 breast cancer ISO RGD:733179 D RGD:2315937|PMID:19223507 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:1612 breast cancer disease_progression ISO RGD:733179 D RGD:2315934|PMID:19957331 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:2152 ovary epithelial cancer ISO RGD:733179 D RGD:2315936|PMID:19608149 20100115 RGD protein:increased expression:ovary 2291 Ccnb1 cyclin B1 gene DOID:2526 prostate adenocarcinoma severity ISO RGD:733179 D RGD:2315940|PMID:10193948 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:2871 endometrial carcinoma ISO RGD:733179 D RGD:2289230|PMID:17483252 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733179 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34837450 2291 Ccnb1 cyclin B1 gene DOID:4362 cervical cancer ISO RGD:733179 D RGD:2315938|PMID:16614707 20100115 RGD mRNA, protein:increased expression:uterine cervix 2291 Ccnb1 cyclin B1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733179 D RGD:2315941|PMID:16557593 20100115 RGD protein:increased expression:kidney 2291 Ccnb1 cyclin B1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733179 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 2291 Ccnb1 cyclin B1 gene DOID:630 genetic disease ISO RGD:733179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2291 Ccnb1 cyclin B1 gene DOID:684 hepatocellular carcinoma ISO RGD:733179 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2291 Ccnb1 cyclin B1 gene DOID:8719 in situ carcinoma ISO RGD:733179 D RGD:2296040|PMID:12610511 20080624 RGD associated with Vulvar Neoplasms;protein:increased expression:vulva 2291 Ccnb1 cyclin B1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2315991|PMID:17342310 20100120 RGD mRNA:increased expression:liver 2291 Ccnb1 cyclin B1 gene DOID:9002221 Hyperplasia IEP D RGD:2314685|PMID:19298605 20100120 RGD mRNA, protein:increased expression:thyroid gland 2291 Ccnb1 cyclin B1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2315990|PMID:18278459 20100120 RGD protein;altered expression:cerebral cortex, hippocampus CA1, neuron 2291 Ccnb1 cyclin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733179 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2291 Ccnb1 cyclin B1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735742 D RGD:2315939|PMID:11146550 20100115 RGD 2291 Ccnb1 cyclin B1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316310|PMID:20031167 20100205 RGD mRNA:decreased expression:liver (rat) 2292168 ISIAH Inherited stress-induced arterial hypertension strain DOID:10763 hypertension IAGP D RGD:1626643|PMID:16700878 20080411 RGD as compared to WAG/Nov 2292168 ISIAH Inherited stress-induced arterial hypertension strain DOID:9003968 Stress-Induced Hypertension induced IAGP XCO:0000157 D RGD:1626643|PMID:16700878 20191220 RGD as compared to WAG/Nov 2292216 Bw80 Body weight QTL 80 qtl DOID:9003287 Body Weight Changes IAGP D RGD:1626643|PMID:16700878 20080415 RGD 2292218 Kidm35 Kidney mass QTL 35 qtl DOID:9003287 Body Weight Changes IDA D RGD:1626643|PMID:16700878 20080415 RGD 2292220 Bp306 Blood pressure QTL 306 qtl DOID:10763 hypertension IDA D RGD:1626643|PMID:16700878 20080415 RGD 2292222 Bp307 Blood pressure QTL 307 qtl DOID:10763 hypertension IDA D RGD:1626643|PMID:16700878 20080415 RGD 2292232 Pur16 Proteinuria QTL 16 qtl DOID:576 proteinuria IAGP D RGD:2292230|PMID:18064521 20080416 RGD 2292385 SS.LEW-(D10Mco30-D10Got107)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20080417 RGD 2292436 Bp310 Blood pressure QTL 310 qtl DOID:9006024 Hypotension IAGP D RGD:2292238|PMID:18398331 20080418 RGD 2292438 Bp311 Blood pressure QTL 311 qtl DOID:9006024 Hypotension IAGP D RGD:2292238|PMID:18398331 20080418 RGD 2292439 Bp309 Blood pressure QTL 309 qtl DOID:9006024 Hypotension IAGP D RGD:2292238|PMID:18398331 20080418 RGD 2292440 Bp312 Blood pressure QTL 312 qtl DOID:9006024 Hypotension IAGP D RGD:2292238|PMID:18398331 20080418 RGD 2292441 Bp308 Blood pressure QTL 308 qtl DOID:9006024 Hypotension IAGP D RGD:2292238|PMID:18398331 20080418 RGD 2292459 WF.LEW-RVFV strain DOID:1328 Rift Valley fever MODEL: onset IAGP D RGD:2292456|PMID:2063951 20080418 RGD 2292459 WF.LEW-RVFV strain DOID:1328 Rift Valley fever MODEL: onset IAGP D RGD:42722016|PMID:26546799 20210302 RGD 2292565 ACI.COP-(D3Mgh16-D3Rat119)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:2292503|PMID:18420736 20080424 RGD 2292566 ACI.COP-(D3Rat130-D3Rat114)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:2292503|PMID:18420736 20080424 RGD 2292567 ACI.COP-(D10Mgh20-D10Rat4)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:2292503|PMID:18420736 20080424 RGD 2292589 Emca10 Estrogen-induced mammary cancer QTL 10 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:2292503|PMID:18420736 20080424 RGD E2 induced for 28 weeks 2292591 Esta4 Estrogen-induced thymic atrophy QTL 4 qtl DOID:3275 thymoma IAGP D RGD:2292503|PMID:18420736 20080424 RGD E2 induced for 12 weeks 2292613 Ept16 Estrogen-induced pituitary tumorigenesis QTL 16 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:2292503|PMID:18420736 20080425 RGD E2 induced for 12 weeks 2292615 Ept17 Estrogen-induced pituitary tumorigenesis QTL 17 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:2292503|PMID:18420736 20080425 RGD E2 induced for 12 weeks 2292616 Ept15 Estrogen-induced pituitary tumorigenesis QTL 15 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:2292503|PMID:18420736 20080425 RGD E2 induced for 12 weeks 2292617 Ept18 Estrogen-induced pituitary tumorigenesis QTL 18 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:2292503|PMID:18420736 20080425 RGD E2 induced for 12 weeks 2292651 SS.LEW-(D1Mco99-D1Rat49)/Mco strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:2291850|PMID:18324438 20080514 RGD 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:1351578 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0080952 AMED syndrome ISO RGD:1351578 D RGD:7240710 20220921 OMIM 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:0080952 AMED syndrome ISO RGD:1351578 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: AMED syndrome, digenic PMID:25741868|PMID:33355142 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:13580 cholestasis IEP D RGD:5129088|PMID:19806079 20110323 RGD mRNA, protein:decreased expression:liver 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:1574 alcohol use disorder IMP D RGD:5129091|PMID:8462548 20110323 RGD 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1351578 D RGD:5128890|PMID:19514054 20110322 RGD 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1351578 D RGD:5128891|PMID:19395503 20110322 RGD protein:increased expression:respiratory system fluid/secretion 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma ISO RGD:1615209 D RGD:5128892|PMID:15919956 20110322 RGD 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:2841 asthma susceptibility ISO RGD:1351578 D RGD:5128882|PMID:17543375 20110322 RGD DNA:SNPs: :rs1154404, rs28730619 (human) 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:630 genetic disease ISO RGD:1351578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2292706 Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide gene DOID:6432 pulmonary hypertension ISO RGD:1615209 D RGD:5128886|PMID:20431245 20110322 RGD 2293 Ccnd3 cyclin D3 gene DOID:0050444 infantile Refsum disease ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 2293 Ccnd3 cyclin D3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736176 D RGD:2316009|PMID:18317945 20100121 RGD 2293 Ccnd3 cyclin D3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736176 D RGD:2316012|PMID:16482499 20100121 RGD 2293 Ccnd3 cyclin D3 gene DOID:2893 cervix carcinoma ISO RGD:736176 D RGD:2316013|PMID:14751136 20100121 RGD 2293 Ccnd3 cyclin D3 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736176 D RGD:2316016|PMID:11329139 20100121 RGD protein:increased expression:breast 2293 Ccnd3 cyclin D3 gene DOID:3713 ovary adenocarcinoma disease_progression ISO RGD:736176 D RGD:2316011|PMID:17885491 20100121 RGD 2293 Ccnd3 cyclin D3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736176 D RGD:2316007|PMID:18679818 20100121 RGD 2293 Ccnd3 cyclin D3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:736176 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 2293 Ccnd3 cyclin D3 gene DOID:630 genetic disease ISO RGD:736176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2293 Ccnd3 cyclin D3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316019|PMID:18008145 20100121 RGD protein:increased expression:spinal cord 2293 Ccnd3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2316020|PMID:16311245 20100121 RGD mRNA, protein:increased expression:mammary gland 2293 Ccnd3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733443 D RGD:2316015|PMID:12853979 20100121 RGD 2293 Ccnd3 cyclin D3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316018|PMID:19276076 20100121 RGD protein:increased expression:kidney, glomerulus 2293 Ccnd3 cyclin D3 gene DOID:9008939 Breast Neoplasms ISO RGD:736176 D RGD:2316005|PMID:19142864 20100121 RGD DNA:polymorphism:promoter:-677C>T (human) 2293 Ccnd3 cyclin D3 gene DOID:905 Zellweger syndrome ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 2293 Ccnd3 cyclin D3 gene DOID:9538 multiple myeloma ISO RGD:736176 D RGD:1581171|PMID:15755896 19990101 RGD 2293012 ACI.BBDP-(RT1u)(Gimap5)/Sunn strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:2293011|PMID:1446803 20200128 RGD 2293012 ACI.BBDP-(RT1u)(Gimap5)/Sunn strain DOID:9744 type 1 diabetes mellitus MODEL: control IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn 2293012 ACI.BBDP-(RT1u)(Gimap5)/Sunn strain DOID:9744 type 1 diabetes mellitus MODEL: control IAGP D RGD:2303106|PMID:19168599 20200302 RGD compared to BBDP/WorSunn 2293083 Iddm25 Insulin dependent diabetes mellitus QTL 25 qtl DOID:9744 type 1 diabetes mellitus resistance IDA D RGD:2303106|PMID:19168599 20090501 RGD Due to BBDP allele 2293084 Iddm26 Insulin dependent diabetes mellitus QTL 26 qtl DOID:9744 type 1 diabetes mellitus susceptibility IDA D RGD:2303106|PMID:19168599 20090504 RGD 2293085 Iddm29 Insulin dependent diabetes mellitus QTL 29 qtl DOID:9744 type 1 diabetes mellitus susceptibility IDA D RGD:2303106|PMID:19168599 20090504 RGD 2293086 Iddm30 Insulin dependent diabetes mellitus QTL 30 qtl DOID:9744 type 1 diabetes mellitus resistance IDA D RGD:2303106|PMID:19168599 20090504 RGD 2293087 Iddm27 Insulin dependent diabetes mellitus QTL 27 qtl DOID:9744 type 1 diabetes mellitus resistance IDA D RGD:2303106|PMID:19168599 20090504 RGD 2293088 Iddm28 Insulin dependent diabetes mellitus QTL 28 qtl DOID:9744 type 1 diabetes mellitus susceptibility IDA D RGD:2303106|PMID:19168599 20090504 RGD 2293089 Iddm31 Insulin dependent diabetes mellitus QTL 31 qtl DOID:9744 type 1 diabetes mellitus susceptibility IDA D RGD:2303106|PMID:19168599 20090504 RGD 2293140 Bp313 Blood pressure QTL 313 qtl DOID:9006024 Hypotension IAGP D RGD:2291850|PMID:18324438 20080514 RGD as compared to SS/Jr 2293142 Bp314 Blood pressure QTL 314 qtl DOID:9006024 Hypotension IAGP D RGD:2291850|PMID:18324438 20080514 RGD as compared to SS/Jr 2293296 Nkapd1 NKAP domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 2293296 Nkapd1 NKAP domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 2293296 Nkapd1 NKAP domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 2293296 Nkapd1 NKAP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605379 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2293296 Nkapd1 NKAP domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1605379 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2293296 Nkapd1 NKAP domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605379 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2293296 Nkapd1 NKAP domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 2293341 Glom15 Glomerulus QTL 15 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20080528 RGD 2293341 Glom15 Glomerulus QTL 15 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20080528 RGD 2293343 Glom16 Glomerulus QTL 16 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20080528 RGD 2293343 Glom16 Glomerulus QTL 16 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20080528 RGD 2293355 WKY.LEW-(D16Rat88-D16Rat40)/Tja strain DOID:576 proteinuria induced IAGP XCO:0000769 D RGD:2293336|PMID:18443593 20080529 RGD 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0060179 Renpenning syndrome ISO RGD:1353471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:25741868|PMID:28492532|PMID:32903913 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353471 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:7240710 20140903 OMIM 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:23561849|PMID:24115232|PMID:25262651|PMID:25741868|PMID:25877686|PMID:26350515|PMID:26467025|PMID:28492532|PMID:28771251|PMID:29907092|PMID:30194038|PMID:30653653|PMID:30746764|PMID:30817854 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353471 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:12849 autistic disorder ISO RGD:1353471 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1353471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:630 genetic disease ISO RGD:1353471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 2293497 Slc35a2 solute carrier family 35 member A2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353471 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 2293498 Zfp9 zinc finger protein 9 gene DOID:630 genetic disease ISO RGD:1344079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2293499 Tedc2 tubulin epsilon and delta complex 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604787 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 2293499 Tedc2 tubulin epsilon and delta complex 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 2293499 Tedc2 tubulin epsilon and delta complex 2 gene DOID:1826 epilepsy ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 2293499 Tedc2 tubulin epsilon and delta complex 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604787 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2293499 Tedc2 tubulin epsilon and delta complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1604787 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2293500 Zfp786 zinc finger protein 786 gene DOID:630 genetic disease ISO RGD:1604748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2293642 Bss37 Bone structure and strength QTL 37 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293644 Bmd29 Bone mineral density QTL 29 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293646 Bss25 Bone structure and strength QTL 25 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293648 Bmd31 Bone mineral density QTL 31 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293650 Bss31 Bone structure and strength QTL 31 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293652 Bmd22 Bone mineral density QTL 22 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293654 Bss30 Bone structure and strength QTL 30 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293655 Bss36 Bone structure and strength QTL 36 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293656 Bss28 Bone structure and strength QTL 28 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293658 Bmd23 Bone mineral density QTL 23 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293659 Bmd35 Bone mineral density QTL 35 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293661 Bss50 Bone structure and strength QTL 50 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293663 Bss33 Bone structure and strength QTL 33 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293664 Bmd28 Bone mineral density QTL 28 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293666 Bmd38 Bone mineral density QTL 38 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293667 Bss42 Bone structure and strength QTL 42 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293669 Bmd33 Bone mineral density QTL 33 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293671 Bss44 Bone structure and strength QTL 44 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293673 Bss27 Bone structure and strength QTL 27 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293674 Bss39 Bone structure and strength QTL 39 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293676 Bmd19 Bone mineral density QTL 19 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293677 Bss41 Bone structure and strength QTL 41 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293678 Bss24 Bone structure and strength QTL 24 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293679 Bmd30 Bone mineral density QTL 30 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293680 Bss40 Bone structure and strength QTL 40 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293682 Bmd24 Bone mineral density QTL 24 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293684 Bmd26 Bone mineral density QTL 26 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293685 Bmd21 Bone mineral density QTL 21 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293686 Bmd36 Bone mineral density QTL 36 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293687 Bss26 Bone structure and strength QTL 26 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293688 Bss29 Bone structure and strength QTL 29 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293689 Bss47 Bone structure and strength QTL 47 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293690 Bss45 Bone structure and strength QTL 45 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293691 Bmd37 Bone mineral density QTL 37 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293693 Bss22 Bone structure and strength QTL 22 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293694 Bss38 Bone structure and strength QTL 38 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293696 Bmd32 Bone mineral density QTL 32 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293697 Bmd39 Bone mineral density QTL 39 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293698 Bss43 Bone structure and strength QTL 43 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293699 Bss49 Bone structure and strength QTL 49 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293700 Bmd27 Bone mineral density QTL 27 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293701 Bmd34 Bone mineral density QTL 34 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293702 Bss34 Bone structure and strength QTL 34 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293703 Bss48 Bone structure and strength QTL 48 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293704 Bss35 Bone structure and strength QTL 35 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293705 Bmd25 Bone mineral density QTL 25 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293706 Bmd20 Bone mineral density QTL 20 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293456|PMID:18282130 20080610 RGD 2293707 Bss32 Bone structure and strength QTL 32 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293708 Bss46 Bone structure and strength QTL 46 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293709 Bss23 Bone structure and strength QTL 23 qtl DOID:11476 osteoporosis susceptibility IAGP D RGD:2293455|PMID:18158281 20080610 RGD 2293729 SHR-Gja8m1-/-Cub strain DOID:0110231 cataract 1 multiple types IAGP D RGD:2293186|PMID:18470322 20080611 RGD 2293729 SHR-Gja8m1-/-Cub strain DOID:10629 microphthalmia IAGP D RGD:2293186|PMID:18470322 20140917 RGD 2293817 Paep progestagen associated endometrial protein gene DOID:0050777 Joubert syndrome ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2293817 Paep progestagen associated endometrial protein gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:25741868|PMID:28492532|PMID:31209758 2293817 Paep progestagen associated endometrial protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2293817 Paep progestagen associated endometrial protein gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2293817 Paep progestagen associated endometrial protein gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2293817 Paep progestagen associated endometrial protein gene DOID:0081097 Rafiq syndrome ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 2293817 Paep progestagen associated endometrial protein gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 2293817 Paep progestagen associated endometrial protein gene DOID:3652 Leigh disease ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2293817 Paep progestagen associated endometrial protein gene DOID:630 genetic disease ISO RGD:1347038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2293817 Paep progestagen associated endometrial protein gene DOID:9003281 Spontaneous Abortions ISO RGD:1347038 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2293817 Paep progestagen associated endometrial protein gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 2293817 Paep progestagen associated endometrial protein gene DOID:9008939 Breast Neoplasms ISO RGD:1347038 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:22296396 2293818 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 2293818 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2293818 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0112103 Sotos syndrome 1 ISO RGD:1602671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2293818 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:630 genetic disease ISO RGD:1602671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2293818 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:7240710 20150617 OMIM 2293818 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:8554872 20150714 ClinVar ClinVar Annotator: match by term: Phosphohydroxylysinuria PMID:23242558 2293832 LOU.BN-(D6Rat128-D6Rat115)/Ins strain DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293833 Kiddil8 Kidney dilation QTL 8 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293835 Kiddil5 Kidney dilation QTL 5 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293835 Kiddil5 Kidney dilation QTL 5 qtl DOID:9000363 Hematuria IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293837 Kiddil1 Kidney dilation QTL 1 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293839 Kiddil2 Kidney dilation QTL 2 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293840 Kiddil9 Kidney dilation QTL 9 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293841 Kiddil4 Kidney dilation QTL 4 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293842 Kiddil3 Kidney dilation QTL 3 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293843 Kiddil6 Kidney dilation QTL 6 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293844 Kiddil7 Kidney dilation QTL 7 qtl DOID:11111 hydronephrosis IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2293844 Kiddil7 Kidney dilation QTL 7 qtl DOID:9000363 Hematuria IAGP D RGD:2293631|PMID:18523158 20080616 RGD 2294 Ccne1 cyclin E1 gene DOID:0050902 medulloblastoma ISO RGD:736488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 2294 Ccne1 cyclin E1 gene DOID:10763 hypertension IEP D RGD:2289296|PMID:12847112 20080128 RGD protein:increased expression:vascular associated smooth muscle cell 2294 Ccne1 cyclin E1 gene DOID:11054 urinary bladder cancer ISO RGD:736488 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:20972438|PMID:27514407 2294 Ccne1 cyclin E1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736488 D RGD:2296035|PMID:18047954 20080624 RGD protein:decreased expression:urinary bladder 2294 Ccne1 cyclin E1 gene DOID:11054 urinary bladder cancer severity ISO RGD:736488 D RGD:2289267|PMID:16739882 20080624 RGD protein:decreased expression:urinary bladder 2294 Ccne1 cyclin E1 gene DOID:1612 breast cancer disease_progression ISO RGD:736488 D RGD:2289231|PMID:17483245 20080125 RGD 2294 Ccne1 cyclin E1 gene DOID:2237 hepatitis ISO RGD:736489 D RGD:153297807|PMID:29551768 20220727 RGD 2294 Ccne1 cyclin E1 gene DOID:3458 breast adenocarcinoma ISO RGD:736488 D RGD:2289225|PMID:18089785 20080125 RGD DNA:amplification 2294 Ccne1 cyclin E1 gene DOID:3571 liver cancer disease_progression IEP D RGD:151356973|PMID:11797828 20220222 RGD protein:increased expression:liver (rat) 2294 Ccne1 cyclin E1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736488 D RGD:13673913|PMID:11212263 20180706 RGD 2294 Ccne1 cyclin E1 gene DOID:4001 ovarian carcinoma IEP D RGD:2289335|PMID:12713563 20080129 RGD protein:increased expression:ovary 2294 Ccne1 cyclin E1 gene DOID:4450 renal cell carcinoma ISO RGD:736488 D RGD:2289228|PMID:17726548 20080125 RGD mRNA, protein:increased expression:kidney 2294 Ccne1 cyclin E1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736488 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 2294 Ccne1 cyclin E1 gene DOID:630 genetic disease ISO RGD:736488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2294 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma IEP D RGD:2289277|PMID:17196522 20080128 RGD 2294 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:22634754 2294 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736489 D RGD:153297807|PMID:29551768 20220727 RGD 2294 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:736489 D RGD:127285675|PMID:28100771 20210627 RGD 2294 Ccne1 cyclin E1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736489 D RGD:2289283|PMID:14968434 20080128 RGD mRNA, protein:increased expression:prostate gland 2294 Ccne1 cyclin E1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736488 D RGD:2293574|PMID:18301453 20080624 RGD protein:increased expression:uterine cervix 2294 Ccne1 cyclin E1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2289281|PMID:16759516 20080128 RGD protein:increased expression:spinal cord 2294 Ccne1 cyclin E1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736488 D RGD:2289266|PMID:16949911 20080125 RGD associated with Carcinoma, Transitional Cell;protein:decreased expression 2294 Ccne1 cyclin E1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736488 D RGD:2296041|PMID:11358847 20080624 RGD mRNA, protein:decreased expression:testis 2294 Ccne1 cyclin E1 gene DOID:9000918 Disease Progression ISO RGD:736488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 2294 Ccne1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736488 D RGD:13673913|PMID:11212263 20180706 RGD associated with non-small cell lung carcinoma 2294 Ccne1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:736489 D RGD:2289229|PMID:17671189 20080125 RGD protein:altered processing 2294 Ccne1 cyclin E1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2289273|PMID:17825795 20080128 RGD protein:increased expression:kidney 2294 Ccne1 cyclin E1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:736489 D RGD:2289283|PMID:14968434 20080128 RGD mRNA, protein:increased expression:prostate gland 2294 Ccne1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 2294 Ccne1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:2289287|PMID:16116079 20080128 RGD protein:increased expression:ovary 2294 Ccne1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:2296042|PMID:17647260 20080624 RGD protein:alternative forms, increased expression:ovary 2294 Ccne1 cyclin E1 gene DOID:9002801 Recurrence ISO RGD:736488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 2294 Ccne1 cyclin E1 gene DOID:9002928 Colonic Neoplasms IEP D RGD:2289293|PMID:14614307 20080128 RGD mRNA, protein:increased expression:colon 2294 Ccne1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736489 D RGD:2289265|PMID:17308103 20080125 RGD protein:increased expression:cervix, epithelial cell 2294 Ccne1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736488 D RGD:2289268|PMID:16538218 20080125 RGD protein:increased expression:cervix 2294 Ccne1 cyclin E1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2289275|PMID:17584601 20080128 RGD protein:decreased expression:liver 2294 Ccne1 cyclin E1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736488 D RGD:2289230|PMID:17483252 20080125 RGD protein:increased expression:endometrium 2294 Ccne1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2289336|PMID:12649181 20080129 RGD protein:decreased expression:mammary gland 2294 Ccne1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2289337|PMID:12602925 20080129 RGD 2294 Ccne1 cyclin E1 gene DOID:9007170 Bowen's Disease ISO RGD:736488 D RGD:2289255|PMID:17471573 20080125 RGD associated with Vulvar Neoplasms;mRNA:increased expression:vulva 2294 Ccne1 cyclin E1 gene DOID:9008939 Breast Neoplasms ISO RGD:736488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19385967|PMID:23624423 2295 Ccng1 cyclin G1 gene DOID:0050933 ovarian serous carcinoma severity ISO RGD:735830 D RGD:151361205|PMID:30565428 20220228 RGD mRNA, protein:increased expression:ovary (human) 2295 Ccng1 cyclin G1 gene DOID:0081292 traumatic brain injury treatment IEP D RGD:151356934|PMID:24398934 20220218 RGD 2295 Ccng1 cyclin G1 gene DOID:0081292 traumatic brain injury treatment IEP D RGD:151356935|PMID:18612315 20220218 RGD 2295 Ccng1 cyclin G1 gene DOID:10652 Alzheimer's disease ISO RGD:735830 D RGD:2316025|PMID:12214116 20100121 RGD protein:increased expression:brain, neuron 2295 Ccng1 cyclin G1 gene DOID:11054 urinary bladder cancer ISO RGD:735830 D RGD:151361200|PMID:27982046 20220228 RGD mRNA:decreased expression:bladder (human) 2295 Ccng1 cyclin G1 gene DOID:1115 sarcoma ISO RGD:735830 D RGD:151361200|PMID:27982046 20220228 RGD mRNA:decreased expression: (human) 2295 Ccng1 cyclin G1 gene DOID:1115 sarcoma treatment ISO RGD:735830 D RGD:151361204|PMID:19532136 20220228 RGD 2295 Ccng1 cyclin G1 gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:735830 D RGD:2316022|PMID:16845792 20220225 RGD associated with cervix carcinoma; protein:increased expression:cervix (human) 2295 Ccng1 cyclin G1 gene DOID:11934 head and neck cancer ISO RGD:735830 D RGD:151361200|PMID:27982046 20220228 RGD mRNA:decreased expression:head and neck (human) 2295 Ccng1 cyclin G1 gene DOID:127 leiomyoma ISO RGD:735830 D RGD:2316023|PMID:12634633 20100121 RGD mRNA, protein:increased expression:uterus, myometrium 2295 Ccng1 cyclin G1 gene DOID:1324 lung cancer treatment ISO RGD:735830 D RGD:151361106|PMID:25472877 20220223 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:1612 breast cancer treatment IEP D RGD:151356928|PMID:23791885 20220216 RGD 2295 Ccng1 cyclin G1 gene DOID:1793 pancreatic cancer treatment ISO RGD:735830 D RGD:151361109|PMID:11177556 20220223 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:735830 D RGD:11055572|PMID:25981880 20220224 RGD protein:increased expression:ovary (human) 2295 Ccng1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:151356990|PMID:33760168 20220222 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:151356992|PMID:32271408 20220222 RGD mRNA:increased expression:ovary (human) 2295 Ccng1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:151361152|PMID:22056875 20220224 RGD DNA:amplification:ovary (human) 2295 Ccng1 cyclin G1 gene DOID:3356 localized osteosarcoma treatment ISO RGD:735830 D RGD:151356969|PMID:9322869 20220221 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:3458 breast adenocarcinoma ISO RGD:735831 D RGD:2315939|PMID:11146550 20220228 RGD mRNA, protein:altered expression:mammary (mouse) 2295 Ccng1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:735830 D RGD:11555725|PMID:26872615 20220221 RGD mRNA:increased expression:ovary (human) 2295 Ccng1 cyclin G1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735830 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2295 Ccng1 cyclin G1 gene DOID:630 genetic disease ISO RGD:735830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma IGI RGD:620761 D RGD:151356922|PMID:25431954 20220216 RGD 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735830 D RGD:151356967|PMID:23804702 20220221 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735831 D RGD:151361200|PMID:27982046 20220228 RGD 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735830 D RGD:151356967|PMID:23804702 20220221 RGD protein:increased expression:liver (human) 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:151356981|PMID:19584283 20220222 RGD protein:increased expression:liver (human) 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:151361198|PMID:22835824 20220228 RGD protein:decreased expression:liver (human) 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:151356932|PMID:24034575 20220218 RGD 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:151356933|PMID:26345095 20220218 RGD 2295 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735830 D RGD:151356970|PMID:33543294 20220221 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:767 muscular atrophy IEP D RGD:151361116|PMID:14638460 20220223 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) 2295 Ccng1 cyclin G1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735830 D RGD:2316022|PMID:16845792 20100121 RGD protein:increased expression:uterine cervix 2295 Ccng1 cyclin G1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2295 Ccng1 cyclin G1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735831 D RGD:151361200|PMID:27982046 20220228 RGD 2295 Ccng1 cyclin G1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735830 D RGD:2316022|PMID:16845792 20100121 RGD protein:increased expression:uterine cervix 2295 Ccng1 cyclin G1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2316027|PMID:9698156 20100122 RGD mRNA, protein:increased expression:brain 2295 Ccng1 cyclin G1 gene DOID:9005172 Lung Neoplasms ISO RGD:735830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 2295 Ccng1 cyclin G1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735830 D RGD:151356987|PMID:10910035 20220222 RGD human cells in mouse model 2295 Ccng1 cyclin G1 gene DOID:9009121 lung metastasis ISO RGD:735831 D RGD:151361205|PMID:30565428 20220228 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1552895 D RGD:11534789|PMID:27069116 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:10113 trypanosomiasis exacerbates ISO RGD:1552895 D RGD:127345115|PMID:15731095 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1353762 D RGD:11074500|PMID:26119195 20210709 RGD mRNA:splice variant:pyloric antrum (human)) 2296 Cd1d1 CD1d1 molecule gene DOID:12206 dengue hemorrhagic fever disease_progression ISO RGD:1353762 D RGD:127345113|PMID:24945350 20210709 RGD protein:increased expression:cd14-positive monocyte (human) 2296 Cd1d1 CD1d1 molecule gene DOID:12365 malaria ameliorates ISO RGD:1552895 D RGD:127345117|PMID:12938235 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:12365 malaria exacerbates ISO RGD:1552895 D RGD:127345121|PMID:24703850 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1552895 D RGD:127345107|PMID:32463330 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:1394 urinary schistosomiasis ISO RGD:1353762 D RGD:127345101|PMID:22347409 20210709 RGD protein:increased expression:B cell (human) 2296 Cd1d1 CD1d1 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1353762 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2296 Cd1d1 CD1d1 molecule gene DOID:2237 hepatitis ameliorates ISO RGD:1552895 D RGD:127345120|PMID:24058536 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:2841 asthma susceptibility ISO RGD:1552895 D RGD:4140417|PMID:20304473 20210709 RGD associated with fasciolopsiasis 2296 Cd1d1 CD1d1 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353762 D RGD:127345096|PMID:30972222 20210709 RGD DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) 2296 Cd1d1 CD1d1 molecule gene DOID:3388 periodontal disease ameliorates ISO RGD:1552895 D RGD:127345118|PMID:23586756 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:3944 Arenaviridae infectious disease ISO RGD:1552895 D RGD:127345122|PMID:32153566 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:630 genetic disease ISO RGD:1353762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2296 Cd1d1 CD1d1 molecule gene DOID:820 myocarditis susceptibility ISO RGD:1552895 D RGD:127345095|PMID:20121405 20210709 RGD associated with Coxsackievirus Infections 2296 Cd1d1 CD1d1 molecule gene DOID:820 myocarditis treatment ISO RGD:1552895 D RGD:11340571|PMID:21050191 20210709 RGD associated with Coxsackievirus Infections 2296 Cd1d1 CD1d1 molecule gene DOID:8566 herpes simplex exacerbates ISO RGD:1552895 D RGD:127345112|PMID:18614643 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:8857 lupus erythematosus ameliorates ISO RGD:1552895 D RGD:127345108|PMID:14561706 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9000220 Coxsackievirus Infections ISO RGD:1552895 D RGD:127345109|PMID:16817758 20210709 RGD protein:increased expression:spleen, mononuclear cell (mouse) 2296 Cd1d1 CD1d1 molecule gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1552895 D RGD:127345102|PMID:12626572 20210709 RGD associated with Coxsackievirus Infections 2296 Cd1d1 CD1d1 molecule gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1552895 D RGD:127345110|PMID:33283278 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9002834 Herpesviridae Infections exacerbates ISO RGD:1552895 D RGD:127345094|PMID:19414797 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9003470 Picornaviridae Infections ISO RGD:1552895 D RGD:127345105|PMID:16809320 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9003470 Picornaviridae Infections treatment ISO RGD:1552895 D RGD:127345106|PMID:19949077 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9004484 Sepsis treatment ISO RGD:1552895 D RGD:127345103|PMID:14572776 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9005295 Viral Eye Infections exacerbates ISO RGD:1552895 D RGD:127345098|PMID:30185591 20210709 RGD associated with Herpesviridae Infections 2296 Cd1d1 CD1d1 molecule gene DOID:9005757 Metapneumovirus infections ISO RGD:1552895 D RGD:127345107|PMID:32463330 20210709 RGD protein:decreased expression:alveolar macrophage, monocyte (mouse) 2296 Cd1d1 CD1d1 molecule gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1552895 D RGD:127345104|PMID:17379092 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9006741 Acute Hepatitis ameliorates ISO RGD:1552895 D RGD:127345111|PMID:11970881 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9008090 Chlamydiaceae Infections ISO RGD:1552895 D RGD:127345116|PMID:23999314 20210709 RGD 2296 Cd1d1 CD1d1 molecule gene DOID:9008114 Helicobacter Infections ISO RGD:1353762 D RGD:11074500|PMID:26119195 20210709 RGD associated with dyspepsia;mRNA:splice variant:pyloric antrum (human) 2296 Cd1d1 CD1d1 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353762 D RGD:127345114|PMID:29643189 20210709 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) 2296 Cd1d1 CD1d1 molecule gene DOID:9008452 Candidemia ameliorates ISO RGD:1552895 D RGD:127345119|PMID:32154791 20210709 RGD associated with endotoxemia 2296 Cd1d1 CD1d1 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353762 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2297 Cd2 Cd2 molecule gene DOID:0060903 thrombosis ISO RGD:10305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 2297 Cd2 Cd2 molecule gene DOID:10283 prostate cancer ISO RGD:10305 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 2297 Cd2 Cd2 molecule gene DOID:1184 nephrotic syndrome ISO RGD:10305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2465858 2297 Cd2 Cd2 molecule gene DOID:630 genetic disease ISO RGD:10305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2297 Cd2 Cd2 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:10305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 2298 Cd24 CD24 molecule gene DOID:1793 pancreatic cancer ISO RGD:736340 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 2298 Cd24 CD24 molecule gene DOID:2377 multiple sclerosis ISO RGD:736340 D RGD:1358462|PMID:14657362 19990101 RGD 2298 Cd24 CD24 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2298475 Eau6 Experimental allergic uveoretinitis QTL 6 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:2296064|PMID:18453595 20080702 RGD 2298477 Eau4 Experimental allergic uveoretinitis QTL 4 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:2296064|PMID:18453595 20080702 RGD 2298478 Eau8 Experimental allergic uveoretinitis QTL 8 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:2296064|PMID:18453595 20080702 RGD 2298479 Eau5 Experimental allergic uveoretinitis QTL 5 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:2296064|PMID:18453595 20080702 RGD 2298480 Eau7 Experimental allergic uveoretinitis QTL 7 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:2296064|PMID:18453595 20080702 RGD 2298481 Eau9 Experimental allergic uveoretinitis QTL 9 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:2296064|PMID:18453595 20080702 RGD 2298494 Kini:DA,PVG-G10 strain DOID:2377 multiple sclerosis MODEL: induced IAGP D RGD:2293859|PMID:16624898 20080703 RGD induced by MOG 2298494 Kini:DA,PVG-G10 strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: induced IAGP D RGD:2293859|PMID:16624898 20080703 RGD induced by MOG 2298495 Eae23 Experimental allergic encephalomyelitis QTL 23 qtl DOID:2377 multiple sclerosis IAGP D RGD:2293859|PMID:16624898 20080703 RGD induced by MOG 2298495 Eae23 Experimental allergic encephalomyelitis QTL 23 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:2293859|PMID:16624898 20080703 RGD induced by MOG 2298542 Neuinf11 Neuroinflammation QTL 11 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298544 Neuinf9 Neuroinflammation QTL 9 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298545 Neuinf8 Neuroinflammation QTL 8 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298546 Neuinf4 Neuroinflammation QTL 4 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298547 Neuinf5 Neuroinflammation QTL 5 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298548 Neuinf7 Neuroinflammation QTL 7 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298549 Neuinf12 Neuroinflammation QTL 12 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298550 Neuinf6 Neuroinflammation QTL 6 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298551 Neuinf10 Neuroinflammation QTL 10 qtl DOID:438 autoimmune disease of the nervous system IAGP D RGD:2311085|PMID:19525015 20090807 RGD 2298772 WFfzHsd Fuzzy rat strain DOID:421 hair disease IAGP D RGD:150520038|PMID:20201958 20211022 RGD 2298772 WFfzHsd Fuzzy rat strain DOID:4535 hypotrichosis MODEL:spontaneous IAGP D RGD:2298846|PMID:513614 20140917 RGD 2298772 WFfzHsd Fuzzy rat strain DOID:4535 hypotrichosis MODEL:spontaneous IAGP D RGD:625461|PMID:12195039 20080723 RGD 2299 Cd28 Cd28 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 2299 Cd28 Cd28 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 2299 Cd28 Cd28 molecule gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:26258847 2299 Cd28 Cd28 molecule gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 2299 Cd28 Cd28 molecule gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 2299 Cd28 Cd28 molecule gene DOID:10322 berylliosis ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12952926 2299 Cd28 Cd28 molecule gene DOID:11713 diabetic angiopathy ISO RGD:735932 D RGD:2307197|PMID:15504310 20090520 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell 2299 Cd28 Cd28 molecule gene DOID:1240 leukemia ISO RGD:735932 D RGD:5131619|PMID:19075187 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:12662 paracoccidioidomycosis ISO RGD:10307 D RGD:5131616|PMID:20713624 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735932 D RGD:5131621|PMID:18056387 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:14557 primary pulmonary hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2299 Cd28 Cd28 molecule gene DOID:2377 multiple sclerosis ISO RGD:735932 D RGD:1358478|PMID:14975605 19990101 RGD DNA:SNP:promoter:-372G>A (human) 2299 Cd28 Cd28 molecule gene DOID:2841 asthma ISO RGD:735932 D RGD:5131612|PMID:21356099 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:3082 interstitial lung disease ISO RGD:735932 D RGD:5131613|PMID:20030671 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:5131618|PMID:19220836 20110505 RGD CD28 null allele is increased in COPD 2299 Cd28 Cd28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:5131620|PMID:18057064 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:10307 D RGD:4892281|PMID:20395561 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:417 autoimmune disease ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15494542|PMID:19077085 2299 Cd28 Cd28 molecule gene DOID:4483 rhinitis ISO RGD:735932 D RGD:5131612|PMID:21356099 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7492435 2299 Cd28 Cd28 molecule gene DOID:614 lymphopenia IMP D RGD:2307205|PMID:12750179 20090521 RGD 2299 Cd28 Cd28 molecule gene DOID:630 genetic disease ISO RGD:735932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2299 Cd28 Cd28 molecule gene DOID:6432 pulmonary hypertension ISO RGD:735932 D RGD:5131619|PMID:19075187 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 2299 Cd28 Cd28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:5131619|PMID:19075187 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:8544 chronic fatigue syndrome ISO RGD:735932 D RGD:5131614|PMID:18801465 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:9001341 Chloracne ISO RGD:735932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2299 Cd28 Cd28 molecule gene DOID:9001488 Human Influenza ISO RGD:10307 D RGD:5131611|PMID:21389258 20110505 RGD 2299 Cd28 Cd28 molecule gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735932 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 2299 Cd28 Cd28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:10307 D RGD:13702883|PMID:8759765 20180723 RGD 2299 Cd28 Cd28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IDA D RGD:13702882|PMID:19907173 20180723 RGD 2299 Cd28 Cd28 molecule gene DOID:9002457 Experimental Arthritis IEP D RGD:2307202|PMID:18601859 20090521 RGD 2299 Cd28 Cd28 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:2307203|PMID:16061730 20090521 RGD 2299 Cd28 Cd28 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735932 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2299 Cd28 Cd28 molecule gene DOID:9004484 Sepsis severity ISO RGD:735932 D RGD:5131622|PMID:17989345 20110505 RGD Higher soluble CD28 in human patients that died 2299 Cd28 Cd28 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10307 D RGD:2307200|PMID:11160314 20090521 RGD 2299 Cd28 Cd28 molecule gene DOID:9006647 Experimental Autoimmune Neuritis IMP D RGD:2307204|PMID:12864982 20090521 RGD 2299 Cd28 Cd28 molecule gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 2299 Cd28 Cd28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:10307 D RGD:2307201|PMID:9410902 20090521 RGD 2299 Cd28 Cd28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735932 D RGD:2307197|PMID:15504310 20090520 RGD protein:decreased expression:T cell 2299 Cd28 Cd28 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735932 D RGD:2307199|PMID:11685455 20090521 RGD DNA:polymorphism:intron (human) 2299160 Iddm35 Insulin dependent diabetes mellitus QTL 35 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:2303106|PMID:19168599 20090504 RGD 2299161 Iddm33 Insulin dependent diabetes mellitus QTL 33 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:2303106|PMID:19168599 20090504 RGD 2299162 Iddm32 Insulin dependent diabetes mellitus QTL 32 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:2303106|PMID:19168599 20090504 RGD 2299163 Iddm34 Insulin dependent diabetes mellitus QTL 34 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:2303106|PMID:19168599 20090504 RGD 2299853 Smim11 small integral membrane protein 11 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2299853 Smim11 small integral membrane protein 11 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1351649 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 2299853 Smim11 small integral membrane protein 11 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2299853 Smim11 small integral membrane protein 11 gene DOID:0110648 long QT syndrome 6 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 2299853 Smim11 small integral membrane protein 11 gene DOID:1588 thrombocytopenia ISO RGD:1351649 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 2299853 Smim11 small integral membrane protein 11 gene DOID:2843 long QT syndrome ISO RGD:1351649 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:25640679|PMID:28492532 2299854 LOC100174910 glutaredoxin-like protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2299854 LOC100174910 glutaredoxin-like protein gene DOID:303 substance-related disorder ISO RGD:5132119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2299854 LOC100174910 glutaredoxin-like protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132119 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2299854 LOC100174910 glutaredoxin-like protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 2299854 LOC100174910 glutaredoxin-like protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2300002 Iddm36 Insulin dependent diabetes mellitus QTL 36 qtl DOID:9744 type 1 diabetes mellitus susceptibility IDA D RGD:2303106|PMID:19168599 20090504 RGD 2300018 SHRSP.ZUC-(D5Rat4-D5Rat36)/IzmDmcr strain DOID:0050851 glomerulosclerosis IAGP D RGD:2300016|PMID:18712058 20080829 RGD 2300018 SHRSP.ZUC-(D5Rat4-D5Rat36)/IzmDmcr strain DOID:10763 hypertension susceptibility IAGP D RGD:2300017|PMID:14756693 20080829 RGD compared to Slc:ZUC-Leprfa 2300018 SHRSP.ZUC-(D5Rat4-D5Rat36)/IzmDmcr strain DOID:2018 hyperinsulinism susceptibility IAGP D RGD:2300017|PMID:14756693 20080829 RGD compared to SHRSP/Izm 2300018 SHRSP.ZUC-(D5Rat4-D5Rat36)/IzmDmcr strain DOID:9000808 Hypercholesterolemia susceptibility IAGP D RGD:2300017|PMID:14756693 20080829 RGD compared to SHRSP/Izm 2300018 SHRSP.ZUC-(D5Rat4-D5Rat36)/IzmDmcr strain DOID:9006646 Metabolic Syndrome MODEL IAGP D RGD:2300017|PMID:14756693 20080829 RGD compared to SHRSP/Izm and Slc:ZUC-Leprfa 2300018 SHRSP.ZUC-(D5Rat4-D5Rat36)/IzmDmcr strain DOID:9970 obesity susceptibility IAGP D RGD:2300017|PMID:14756693 20080829 RGD compared to SHRSP/Izm 2300145 Cox7c cytochrome c oxidase subunit 7C gene DOID:10652 Alzheimer's disease ISO RGD:1353652 D RGD:13792588|PMID:28474567 20180914 RGD 2300145 Cox7c cytochrome c oxidase subunit 7C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353652 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2300145 Cox7c cytochrome c oxidase subunit 7C gene DOID:9970 obesity ISO RGD:1353652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2300146 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1347149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 2300146 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:3883 Lynch syndrome ISO RGD:1347149 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Lynch syndrome 2300146 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:630 genetic disease ISO RGD:1347149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2300146 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347149 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2300148 Ctxn3 cortexin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2300148 Ctxn3 cortexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604412 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2300148 Ctxn3 cortexin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2300149 Fam229b family with sequence similarity 229, member B gene DOID:630 genetic disease ISO RGD:2298836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2300150 Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:3418321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 2300150 Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:630 genetic disease ISO RGD:3418321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346850 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21487022 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:7240710 20130221 OMIM 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 PMID:10612827|PMID:15262732|PMID:15496428|PMID:15824259|PMID:16199547|PMID:16216955|PMID:16632198|PMID:17576681|PMID:19124534|PMID:20301400|PMID:21487022|PMID:22967746|PMID:24033266|PMID:25107857|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28893297|PMID:8659518|PMID:9490305|PMID:9536098 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1346850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:543 dystonia ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:15262732|PMID:15496428|PMID:15824259|PMID:16216955|PMID:20301400|PMID:28492532|PMID:8659518|PMID:9490305 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:630 genetic disease ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2300155 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346850 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2300157 Bmd66 Bone mineral density QTL 66 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300159 Bmd61 Bone mineral density QTL 61 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300161 Bmd43 Bone mineral density QTL 43 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300163 Bmd64 Bone mineral density QTL 64 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300164 Bmd44 Bone mineral density QTL 44 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300165 Bmd49 Bone mineral density QTL 49 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300167 Bmd63 Bone mineral density QTL 63 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300168 Bmd47 Bone mineral density QTL 47 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300170 Bmd45 Bone mineral density QTL 45 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300171 Bmd58 Bone mineral density QTL 58 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300172 Bmd57 Bone mineral density QTL 57 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300173 Bmd62 Bone mineral density QTL 62 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300174 Bmd42 Bone mineral density QTL 42 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300175 Bmd40 Bone mineral density QTL 40 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300176 Bmd51 Bone mineral density QTL 51 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300177 Bmd65 Bone mineral density QTL 65 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300178 Bmd54 Bone mineral density QTL 54 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300179 Bmd50 Bone mineral density QTL 50 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300180 Bmd67 Bone mineral density QTL 67 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300181 Bmd55 Bone mineral density QTL 55 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300182 Bmd56 Bone mineral density QTL 56 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300183 Bmd60 Bone mineral density QTL 60 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300184 Bmd53 Bone mineral density QTL 53 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300185 Bmd46 Bone mineral density QTL 46 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300186 Bmd59 Bone mineral density QTL 59 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300187 Bmd41 Bone mineral density QTL 41 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300188 Bmd68 Bone mineral density QTL 68 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300189 Bmd48 Bone mineral density QTL 48 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300190 Bmd52 Bone mineral density QTL 52 qtl DOID:11476 osteoporosis IAGP D RGD:2300109|PMID:18707222 20080908 RGD 2300197 Scl59 Serum cholesterol level QTL 59 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:2300117|PMID:18753676 20080908 RGD 2300217 SHR.BN-(D10Mgh3-Srebf1)/Ipcv strain DOID:9452 fatty liver disease susceptibility IAGP D RGD:1643359|PMID:18071061 20080909 RGD 2300218 Hpcl2 Hepatic cholesterol level QTL 2 qtl DOID:9452 fatty liver disease susceptibility IAGP D RGD:1643359|PMID:18071061 20080909 RGD 2300324 Fetw1 Fetal weight QTL 1 qtl DOID:9006646 Metabolic Syndrome contributes_to IAGP D RGD:2300320|PMID:16914718 20080912 RGD 2300326 Plaw1 Placental weight QTL 1 qtl DOID:9006646 Metabolic Syndrome contributes_to IAGP D RGD:2300320|PMID:16914718 20080912 RGD 2301 Cd36 CD36 molecule gene DOID:0050700 cardiomyopathy treatment ISO RGD:619555 D RGD:11040927|PMID:17363697 20160316 RGD 2301 Cd36 CD36 molecule gene DOID:0050827 rheumatic heart disease ISO RGD:619554 D RGD:6893529|PMID:16741676 20120905 RGD mRNA:decreased expression:blood, mononuclear cell 2301 Cd36 CD36 molecule gene DOID:0060180 colitis ISO RGD:619555 D RGD:6893503|PMID:19117124 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:619554 D RGD:6893544|PMID:21195211 20120905 RGD mRNA, protein:decreased expression:blood, leukocyte 2301 Cd36 CD36 molecule gene DOID:0070004 myeloid neoplasm ISO RGD:619554 D RGD:11040908|PMID:12479587 20160316 RGD protein:increased expression:platelet, plasma membrane 2301 Cd36 CD36 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619555 D RGD:11041117|PMID:24280415 20160321 RGD 2301 Cd36 CD36 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619555 D RGD:6893543|PMID:21216282 20120905 RGD mRNA:increased expression:liver 2301 Cd36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2301 Cd36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:7240710 20230517 OMIM 2301 Cd36 CD36 molecule gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 PMID:10890433|PMID:10946357|PMID:11019968|PMID:11352982|PMID:11499670|PMID:11718687|PMID:11950861|PMID:12031598|PMID:15282206|PMID:15671915|PMID:16493488|PMID:18305138|PMID:19403559|PMID:20722468|PMID:22993001|PMID:23649248|PMID:23856131|PMID:23966019|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25330908|PMID:25741868|PMID:25798958|PMID:25995486|PMID:26528880|PMID:28137300|PMID:28492532|PMID:33116287|PMID:7533783|PMID:7686693|PMID:8696942 2301 Cd36 CD36 molecule gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:619554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 2301 Cd36 CD36 molecule gene DOID:10223 dermatomyositis ISO RGD:619554 D RGD:6893508|PMID:17572512 20120831 RGD mRNA:increased expression:skeletal muscle 2301 Cd36 CD36 molecule gene DOID:10325 silicosis treatment IMP D RGD:11041147|PMID:24053919 20160322 RGD 2301 Cd36 CD36 molecule gene DOID:10603 glucose intolerance ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 2301 Cd36 CD36 molecule gene DOID:10608 celiac disease ISO RGD:619554 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 2301 Cd36 CD36 molecule gene DOID:10652 Alzheimer's disease ISO RGD:619554 D RGD:6893531|PMID:16563568 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:10763 hypertension IEP D RGD:2300254|PMID:18587397 20090522 RGD 2301 Cd36 CD36 molecule gene DOID:10763 hypertension ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18587397 2301 Cd36 CD36 molecule gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:619554 D RGD:11041104|PMID:7529543 20160321 RGD 2301 Cd36 CD36 molecule gene DOID:10923 sickle cell anemia ISO RGD:619554 D RGD:6893506|PMID:18322255 20120831 RGD protein:increased expression:erythrocyte 2301 Cd36 CD36 molecule gene DOID:10923 sickle cell anemia treatment ISO RGD:619555 D RGD:11041114|PMID:20015873 20160321 RGD 2301 Cd36 CD36 molecule gene DOID:11382 corneal neovascularization ISO RGD:619555 D RGD:6893528|PMID:17003426 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:11612 polycystic ovary syndrome IDA D RGD:11041149|PMID:25702158 20160322 RGD protein:decreased expression:cardiac muscle cell 2301 Cd36 CD36 molecule gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:2307222|PMID:19189074 20090522 RGD mRNA:increased expression:heart 2301 Cd36 CD36 molecule gene DOID:12132 granulomatosis with polyangiitis ISO RGD:619554 D RGD:6893495|PMID:21412229 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2301 Cd36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:7240710 20230517 OMIM 2301 Cd36 CD36 molecule gene DOID:12365 malaria ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10890433|PMID:18305138|PMID:19403559|PMID:25741868 2301 Cd36 CD36 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:619554 D RGD:6893534|PMID:16197457 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10981864 2301 Cd36 CD36 molecule gene DOID:14069 cerebral malaria ISO RGD:619555 D RGD:6893527|PMID:17367535 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:1826 epilepsy ISO RGD:619554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 2301 Cd36 CD36 molecule gene DOID:1936 atherosclerosis ISO RGD:619555 D RGD:6893502|PMID:19264766 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:1936 atherosclerosis ISO RGD:619555 D RGD:6893559|PMID:20037584 20120907 RGD 2301 Cd36 CD36 molecule gene DOID:1936 atherosclerosis treatment IEP D RGD:11041151|PMID:26003171 20160322 RGD 2301 Cd36 CD36 molecule gene DOID:2218 blood platelet disease ISO RGD:619554 D RGD:1600629|PMID:11950861 20070321 RGD CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation 2301 Cd36 CD36 molecule gene DOID:2218 blood platelet disease ISO RGD:619554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:10946357|PMID:11019968|PMID:11718687|PMID:11950861|PMID:15282206|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25741868|PMID:25798958|PMID:7533783|PMID:7686693 2301 Cd36 CD36 molecule gene DOID:2224 essential thrombocythemia ISO RGD:619554 D RGD:11041099|PMID:8555064 20160321 RGD protein:increased expression:platelet, cell surface 2301 Cd36 CD36 molecule gene DOID:2316 brain ischemia ISO RGD:619555 D RGD:6893498|PMID:20360550 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:2349 arteriosclerosis severity ISO RGD:619554 D RGD:2307207|PMID:18723424 20090521 RGD protein:increased expression:plasma 2301 Cd36 CD36 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:619554 D RGD:6893496|PMID:20855355 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:2527 nephrosis IEP D RGD:2307223|PMID:19147991 20090522 RGD 2301 Cd36 CD36 molecule gene DOID:289 endometriosis ISO RGD:619554 D RGD:6893501|PMID:19606481 20120831 RGD mRNA, protein:decreased expression:macrophage 2301 Cd36 CD36 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619554 D RGD:41412192|PMID:28693442 20210223 RGD DNA:SNPs: :rs1194182, rs10499859(human) 2301 Cd36 CD36 molecule gene DOID:3042 allergic contact dermatitis ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 2301 Cd36 CD36 molecule gene DOID:3429 inclusion body myositis ISO RGD:619554 D RGD:6893508|PMID:17572512 20120831 RGD mRNA:increased expression:skeletal muscle 2301 Cd36 CD36 molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619555 D RGD:11041113|PMID:25216018 20160321 RGD 2301 Cd36 CD36 molecule gene DOID:3526 cerebral infarction ISO RGD:619555 D RGD:6893487|PMID:22718544 20120831 RGD associated with Hyperlipidemias 2301 Cd36 CD36 molecule gene DOID:3770 pulmonary fibrosis IMP D RGD:2307220|PMID:19439069 20090522 RGD associated with Silicosis 2301 Cd36 CD36 molecule gene DOID:3770 pulmonary fibrosis severity ISO RGD:619555 D RGD:6893557|PMID:20056742 20120907 RGD associated with Silicosis 2301 Cd36 CD36 molecule gene DOID:4448 macular degeneration IAGP D RGD:2307226|PMID:18288886 20090522 RGD 2301 Cd36 CD36 molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619554 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2301 Cd36 CD36 molecule gene DOID:5082 liver cirrhosis ISO RGD:619554 D RGD:6893541|PMID:22648712 20120905 RGD associated with Hypertension, Portal 2301 Cd36 CD36 molecule gene DOID:5844 myocardial infarction severity IMP D RGD:6893560|PMID:22128087 20120907 RGD 2301 Cd36 CD36 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 2301 Cd36 CD36 molecule gene DOID:630 genetic disease ISO RGD:619554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2301 Cd36 CD36 molecule gene DOID:8398 osteoarthritis susceptibility ISO RGD:619554 D RGD:1625347|PMID:15334463 20070604 RGD 2301 Cd36 CD36 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:619554 D RGD:11041099|PMID:8555064 20160321 RGD protein:increased expression:platelet, cell surface 2301 Cd36 CD36 molecule gene DOID:8997 polycythemia vera ISO RGD:619554 D RGD:11041099|PMID:8555064 20160321 RGD protein:increased expression:platelet, cell surface 2301 Cd36 CD36 molecule gene DOID:9000064 Cardiac Arrhythmias severity IMP D RGD:6893560|PMID:22128087 20120907 RGD 2301 Cd36 CD36 molecule gene DOID:9000528 Coronary Disease ISO RGD:619554 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2301 Cd36 CD36 molecule gene DOID:9000528 Coronary Disease ISO RGD:619554 D RGD:6893507|PMID:18067591 20120831 RGD mRNA:increased expression:monocyte 2301 Cd36 CD36 molecule gene DOID:9000528 Coronary Disease ISO RGD:619554 D RGD:7240710 20230517 OMIM 2301 Cd36 CD36 molecule gene DOID:9000656 Penetrating Wounds ISO RGD:619555 D RGD:6893492|PMID:21803601 20120831 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:macrophage 2301 Cd36 CD36 molecule gene DOID:9000808 Hypercholesterolemia ISO RGD:619554 D RGD:11040931|PMID:10946357 20160316 RGD 2301 Cd36 CD36 molecule gene DOID:9001415 Mycobacterium Infections ISO RGD:619555 D RGD:6893545|PMID:20950462 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2301 Cd36 CD36 molecule gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2307215|PMID:15737001 20090521 RGD protein:increased expression:renal proximal tubule, endothelial cell 2301 Cd36 CD36 molecule gene DOID:9002331 Knee Osteoarthritis IEP D RGD:6893565|PMID:19342682 20120907 RGD 2301 Cd36 CD36 molecule gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:619554 D RGD:6893494|PMID:21765106 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:9002554 Tachycardia IEP D RGD:11041119|PMID:26579575 20160321 RGD 2301 Cd36 CD36 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:619555 D RGD:6893504|PMID:19064796 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:9003936 Cardiomegaly treatment ISO RGD:619555 D RGD:11040928|PMID:26036798 20160316 RGD associated with Obesity 2301 Cd36 CD36 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2301 Cd36 CD36 molecule gene DOID:9004484 Sepsis ISO RGD:619555 D RGD:6893490|PMID:22327076 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:9004610 Acute Lung Injury ISO RGD:619555 D RGD:6893505|PMID:18483551 20120831 RGD associated with Malaria 2301 Cd36 CD36 molecule gene DOID:9004657 Weight Gain ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2301 Cd36 CD36 molecule gene DOID:9005176 Retroperitoneal Fibrosis ISO RGD:619554 D RGD:6893538|PMID:16014033 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:9005372 Inflammation ISO RGD:619555 D RGD:6893488|PMID:22470565 20120831 RGD associated with Fatty Liver 2301 Cd36 CD36 molecule gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2307214|PMID:16838191 20090521 RGD mRNA:increased expression:multiple organs 2301 Cd36 CD36 molecule gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:11041145|PMID:23691525 20160322 RGD 2301 Cd36 CD36 molecule gene DOID:9006013 Hematoma ISO RGD:619554 D RGD:11040930|PMID:24808360 20160316 RGD associated with Cerebral Hemorrhage 2301 Cd36 CD36 molecule gene DOID:9006013 Hematoma treatment ISO RGD:619555 D RGD:11040930|PMID:24808360 20160316 RGD associated with Cerebral Hemorrhage 2301 Cd36 CD36 molecule gene DOID:9006646 Metabolic Syndrome IAGP D RGD:619666|PMID:9916795 19990101 RGD 2301 Cd36 CD36 molecule gene DOID:9006646 Metabolic Syndrome ISO RGD:619554 D RGD:2307208|PMID:18305138 20090521 RGD DNA:SNPs: :multiple (human) 2301 Cd36 CD36 molecule gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:619555 D RGD:11041117|PMID:24280415 20160321 RGD 2301 Cd36 CD36 molecule gene DOID:9007096 Stroke ISO RGD:619554 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 2301 Cd36 CD36 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2301 Cd36 CD36 molecule gene DOID:9007692 Insulin Resistance IMP D RGD:11041132|PMID:25477422 20160322 RGD 2301 Cd36 CD36 molecule gene DOID:9007692 Insulin Resistance IMP D RGD:68930|PMID:11175782 20070321 RGD 2301 Cd36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 2301 Cd36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:11040926|PMID:12923231 20160316 RGD 2301 Cd36 CD36 molecule gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:2307217|PMID:15231693 20090521 RGD associated with Diabetes Mellitus, Type 2 2301 Cd36 CD36 molecule gene DOID:9008885 Staphylococcal Infections ISO RGD:619554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 2301 Cd36 CD36 molecule gene DOID:9182 pemphigus ISO RGD:619554 D RGD:5490304|PMID:21255096 20120905 RGD 2301 Cd36 CD36 molecule gene DOID:9351 diabetes mellitus ISO RGD:619555 D RGD:2307209|PMID:17551591 20090521 RGD protein:increased expression:macrophage 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2307211|PMID:17127041 20090521 RGD protein:increased expression:aorta 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:11040908|PMID:12479587 20160316 RGD protein:increased expression:platelet 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:2307212|PMID:16952981 20090521 RGD protein:increased expression:plasma 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:2307218|PMID:15221799 20090522 RGD DNA:nonsense mutation: :p.L360X 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:6893499|PMID:20134099 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:619555 D RGD:2307219|PMID:7544802 20090522 RGD protein:increased expression:heart 2301 Cd36 CD36 molecule gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:619554 D RGD:2307213|PMID:16911630 20090521 RGD DNA:SNP:promoter 2301 Cd36 CD36 molecule gene DOID:9452 fatty liver disease ISO RGD:619555 D RGD:6893500|PMID:19788606 20120831 RGD 2301 Cd36 CD36 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:619555 D RGD:2307219|PMID:7544802 20090522 RGD protein:increased expression:heart 2301 Cd36 CD36 molecule gene DOID:9970 obesity IEP D RGD:11041118|PMID:23743348 20160321 RGD protein:increased expression:skeletal muscle, T-tubule 2301 Cd36 CD36 molecule gene DOID:9970 obesity IEP D RGD:6893497|PMID:20435456 20120831 RGD mRNA, protein:increased expression:liver, gastrocnemius 2301 Cd36 CD36 molecule gene DOID:9970 obesity IMP D RGD:11041132|PMID:25477422 20160322 RGD 2301 Cd36 CD36 molecule gene DOID:9970 obesity ISO RGD:619555 D RGD:6893542|PMID:22615812 20120905 RGD 2301010 Nrn1l neuritin 1-like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2301010 Nrn1l neuritin 1-like gene DOID:630 genetic disease ISO RGD:1605881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2301011 Zfp951 zinc finger protein 951 gene DOID:0050990 episodic ataxia type 2 ISO RGD:2300035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2301011 Zfp951 zinc finger protein 951 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:2300035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2301011 Zfp951 zinc finger protein 951 gene DOID:0111254 glutaric acidemia I ISO RGD:2300035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2301011 Zfp951 zinc finger protein 951 gene DOID:3413 alpha-mannosidosis ISO RGD:2300035 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2301011 Zfp951 zinc finger protein 951 gene DOID:630 genetic disease ISO RGD:2300035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2301315 LE/Orl Long-Evans/Cryptorchid strain DOID:11383 cryptorchidism MODEL: spontaneous IAGP D RGD:2301308|PMID:16952701 20081006 RGD 2301330 KH strain DOID:0080775 complete androgen insensitivity syndrome IAGP D RGD:1298681|PMID:2341409 20201001 RGD compared to wild type 2301330 KH strain DOID:11383 cryptorchidism IAGP D RGD:2301322|PMID:6140035 20081006 RGD 2301381 SS.LEW-(D18Chm41-D18Rat92)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2301385 SS.LEW-(D18Rat29-D18Rat55)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2301394 Rnf123 ring finger protein 123 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 2301394 Rnf123 ring finger protein 123 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 2301394 Rnf123 ring finger protein 123 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350672 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2301394 Rnf123 ring finger protein 123 gene DOID:630 genetic disease ISO RGD:1350672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2301394 Rnf123 ring finger protein 123 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350672 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 2301400 Cm68 Cardiac mass QTL 68 qtl DOID:10763 hypertension no_association IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301402 Bp316 Blood pressure QTL 316 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301404 Bp321 Blood pressure QTL 321 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301410 Bp317 Blood pressure QTL 317 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301411 Bp320 Blood pressure QTL 320 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301413 Bp318 Blood pressure QTL 318 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301415 Cm67 Cardiac mass QTL 67 qtl DOID:10763 hypertension no_association IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301416 Bp315 Blood pressure QTL 315 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301417 Bp319 Blood pressure QTL 319 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:2902676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:2902676 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:2902676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:8445 intestinal volvulus ISO RGD:2902676 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:2902676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2902676 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2301798 Hsbp1l1 heat shock factor binding protein 1-like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:2902676 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 2301962 Cm72 Cardiac mass QTL 72 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301964 Bp323 Blood pressure QTL 323 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301966 Bp322 Blood pressure QTL 322 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301967 Cm73 Cardiac mass QTL 73 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301969 Bp324 Blood pressure QTL 324 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301970 Bw81 Body weight QTL 81 qtl DOID:9970 obesity IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301971 Cm71 Cardiac mass QTL 71 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301972 Bp325 Blood pressure QTL 325 qtl DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20081114 RGD 2301983 Inafm1 InaF-motif containing 1 gene DOID:630 genetic disease ISO RGD:3518440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2301984 Atxn7l3b ataxin 7-like 3B gene DOID:630 genetic disease ISO RGD:2816966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:1883 hepatitis C ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:305 carcinoma ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:4450 renal cell carcinoma ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:5062 phencyclidine abuse ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:630 genetic disease ISO RGD:735633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:783 end stage renal disease ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9000528 Coronary Disease ISO RGD:735634 D RGD:1580004|PMID:15967843 19990101 RGD 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735634 D RGD:1580004|PMID:15967843 19990101 RGD 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9003370 Dyslipidemias ISO RGD:735633 D RGD:7240710 20181003 OMIM 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9003370 Dyslipidemias ISO RGD:735633 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 PMID:21226579|PMID:21480869|PMID:25741868|PMID:26965621|PMID:28492532 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9006379 Follicular Cyst ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20404351 2302 Scarb1 scavenger receptor class B, member 1 gene DOID:9505 cannabis abuse ISO RGD:735633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2302038 Pia31 Pristane induced arthritis QTL 31 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302040 Pia35 Pristane induced arthritis QTL 35 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302042 Pia38 Pristane induced arthritis QTL 38 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302043 Pia27 Pristane induced arthritis QTL 27 qtl DOID:7148 rheumatoid arthritis no_association IAGP D RGD:2302026|PMID:14674011 20081118 RGD pristane induced 2302045 Pia39 Pristane induced arthritis QTL 39 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302047 Pia34 Pristane induced arthritis QTL 34 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302049 Pia32 Pristane induced arthritis QTL 32 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302051 Pia28 Pristane induced arthritis QTL 28 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302053 Pia33 Pristane induced arthritis QTL 33 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302055 Pia30 Pristane induced arthritis QTL 30 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302057 Pia29 Pristane induced arthritis QTL 29 qtl DOID:7148 rheumatoid arthritis no_association IAGP D RGD:2302026|PMID:14674011 20081118 RGD pristane induced 2302059 Pia36 Pristane induced arthritis QTL 36 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302060 Pia37 Pristane induced arthritis QTL 37 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 2302081 DA.E3-(D11Got79-D11Wox5)/Rhd strain DOID:6132 bronchitis induces IAGP XCO:0000906, XCO:0000908 D RGD:2302066|PMID:18779593 20210929 RGD compared to DA 2302110 SHRSP.WKY-(Apbb1-D1Arb21)/Izm strain DOID:0050851 glomerulosclerosis susceptibility IAGP XCO:0000164 D RGD:2302104|PMID:18971556 20200110 RGD compared to SHRSP/Izm; MMO:0000496 2302141 F344-Tg(Cyp1a1-Ren2)10Jmul strain DOID:10763 hypertension MODEL: induced IMP D RGD:2302140|PMID:11448960 20081121 RGD indole-3 carbinol induced 2302141 F344-Tg(Cyp1a1-Ren2)10Jmul strain DOID:10824 malignant hypertension MODEL IMP D RGD:2302144|PMID:18090546 20081121 RGD indole-3 carbinol induced 2302141 F344-Tg(Cyp1a1-Ren2)10Jmul strain DOID:576 proteinuria MODEL: induced IMP D RGD:2302140|PMID:11448960 20081121 RGD indole-3 carbinol induced 2302273 Gluco35 Glucose level QTL 35 qtl DOID:9351 diabetes mellitus IAGP D RGD:2298688|PMID:18612083 20081208 RGD 2302275 Gluco37 Glucose level QTL 37 qtl DOID:9351 diabetes mellitus IAGP D RGD:2298688|PMID:18612083 20081208 RGD 2302276 Bw82 Body weight QTL 82 qtl DOID:9970 obesity IAGP D RGD:2298688|PMID:18612083 20081208 RGD 2302277 Gluco38 Glucose level QTL 38 qtl DOID:9351 diabetes mellitus IAGP D RGD:2298688|PMID:18612083 20081208 RGD 2302278 Gluco36 Glucose level QTL 36 qtl DOID:9351 diabetes mellitus IAGP D RGD:2298688|PMID:18612083 20081208 RGD 2302323 Hexd hexosaminidase D gene DOID:630 genetic disease ISO RGD:1602417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2302365 Gluco40 Glucose level QTL 40 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302367 Slep5 Serum leptin concentration QTL 5 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302369 Scl60 Serum cholesterol level QTL 60 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302371 Stl22 Serum triglyceride level QTL 22 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302373 Gluco39 Glucose level QTL 39 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302375 Bw83 Body weight QTL 83 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302375 Bw83 Body weight QTL 83 qtl DOID:9970 obesity IAGP D RGD:619689|PMID:10720472 20081215 RGD 2302377 Scl61 Serum cholesterol level QTL 61 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302378 Insul11 Insulin level QTL 11 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302380 Slep6 Serum leptin concentration QTL 6 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302381 Bw84 Body weight QTL 84 qtl DOID:9006646 Metabolic Syndrome TAS D RGD:619689|PMID:10720472 20081215 RGD 2302381 Bw84 Body weight QTL 84 qtl DOID:9970 obesity IAGP D RGD:619689|PMID:10720472 20081215 RGD 2302387 DA.ACI-(D2Mit12-D2Mgh29)/Nsi strain DOID:7148 rheumatoid arthritis IAGP D RGD:1358860|PMID:15641042 20081215 RGD 2302582 Gon7 GON7 subunit of KEOPS complex gene DOID:0080054 achondrogenesis type IA ISO RGD:1346081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 2302582 Gon7 GON7 subunit of KEOPS complex gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:31481669 2302582 Gon7 GON7 subunit of KEOPS complex gene DOID:630 genetic disease ISO RGD:1346081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2302582 Gon7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:7240710 20211201 OMIM 2302582 Gon7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 PMID:25741868|PMID:31481669 2302582 Gon7 GON7 subunit of KEOPS complex gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1346081 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:33340455 2302685 Insyn2a inhibitory synaptic factor 2A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2290515 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 2302685 Insyn2a inhibitory synaptic factor 2A gene DOID:630 genetic disease ISO RGD:2290515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2303 Cd38 CD38 molecule gene DOID:0050777 Joubert syndrome ISO RGD:735841 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 2303 Cd38 CD38 molecule gene DOID:630 genetic disease ISO RGD:735841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2303 Cd38 CD38 molecule gene DOID:9001542 Albuminuria ISO RGD:735841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21992601 2303 Cd38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2307239|PMID:16343077 20090522 RGD mRNA, protein:increased expression:liver 2303 Cd38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2303 Cd38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies IMP D RGD:2307227|PMID:19073639 20090522 RGD associated with Diabetes Mellitus, Experimental 2303 Cd38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:735841 D RGD:2307228|PMID:19300526 20090522 RGD associated with Diabetes Mellitus 2303 Cd38 CD38 molecule gene DOID:9003936 Cardiomegaly IMP D RGD:2307236|PMID:18719074 20090522 RGD 2303 Cd38 CD38 molecule gene DOID:9007102 Myocardial Ischemia IDA D RGD:2307243|PMID:12111041 20090522 RGD protein:increased activity:ventricle myocardium 2303 Cd38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:735841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2303 Cd38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2307234|PMID:7669044 20090522 RGD mRNA:decreased expression:pancreatic islet 2303 Cd38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:2307232|PMID:12242463 20090522 RGD 2303 Cd38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:2307233|PMID:9754820 20090522 RGD DNA:missense mutation: :p.R140W (human) 2303 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:2307229|PMID:16920929 20090522 RGD 2303 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735841 D RGD:2307230|PMID:16459468 20090522 RGD 2303 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISS RGD:731646 D RGD:13592920 20180518 MouseDO OMIM:222100 2303 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:735841 D RGD:2307231|PMID:12488956 20090522 RGD 2303028 Bp329 Blood pressure QTL 329 qtl DOID:9006024 Hypotension IAGP D RGD:1625678|PMID:17566075 20090127 RGD 8% NaCl diet 2303030 Bp327 Blood pressure QTL 327 qtl DOID:9006024 Hypotension IAGP D RGD:1625678|PMID:17566075 20090127 RGD 8% NaCl diet 2303031 Bp326 Blood pressure QTL 326 qtl DOID:9006024 Hypotension IAGP D RGD:1625678|PMID:17566075 20090127 RGD 8% NaCl diet 2303032 Bp328 Blood pressure QTL 328 qtl DOID:9006024 Hypotension IAGP D RGD:1625678|PMID:17566075 20090127 RGD 8% NaCl diet 2303116 SPRD.WKY-(D10Rat91-D10Rat135)/Ibmm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2302423|PMID:19052818 20200318 RGD 2303117 SPRD.WKY-(D5Rat190-D5Rat114)(D18Rat102-D18Rat44)/Ibmm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2302423|PMID:19052818 20200318 RGD 2303118 Mamtr7 Mammary tumor resistance QTL 7 qtl DOID:299 adenocarcinoma IDA D RGD:2302423|PMID:19052818 20090204 RGD 2303118 Mamtr7 Mammary tumor resistance QTL 7 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:2302423|PMID:19052818 20090204 RGD 2303120 Mamtr8 Mammary tumor resistance QTL 8 qtl DOID:299 adenocarcinoma IDA D RGD:2302423|PMID:19052818 20090204 RGD 2303120 Mamtr8 Mammary tumor resistance QTL 8 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:2302423|PMID:19052818 20090204 RGD 2303168 Bp330 Blood pressure QTL 330 qtl DOID:9006024 Hypotension IAGP D RGD:2303163|PMID:8829824 20090205 RGD 2303170 Bp332 Blood pressure QTL 332 qtl DOID:10763 hypertension IAGP D RGD:2303163|PMID:8829824 20090205 RGD 2303171 Bp331 Blood pressure QTL 331 qtl DOID:9006024 Hypotension IAGP D RGD:2303163|PMID:8829824 20090205 RGD 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:2302530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2302530 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:630 genetic disease ISO RGD:2302530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2303311 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2302530 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2303312 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:7240710 20190626 OMIM 2303312 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 115 PMID:25741868|PMID:28492532 2303312 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:10003 sensorineural hearing loss ISO RGD:1625643 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 2303312 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:630 genetic disease ISO RGD:1625643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2303312 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:9004538 Hearing Loss ISO RGD:1625643 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 2303559 Gluco54 Glucose level QTL 54 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303561 Bw91 Body weight QTL 91 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303563 Bw89 Body weight QTL 89 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303564 Gluco43 Glucose level QTL 43 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303566 Bw90 Body weight QTL 90 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303568 Bw88 Body weight QTL 88 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303569 Gluco44 Glucose level QTL 44 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303570 Gluco48 Glucose level QTL 48 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303571 Bw92 Body weight QTL 92 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303572 Insul13 Insulin level QTL 13 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303574 Gluco42 Glucose level QTL 42 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303575 Insul14 Insulin level QTL 14 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303576 Gluco45 Glucose level QTL 45 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303577 Gluco47 Glucose level QTL 47 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303578 Gluco50 Glucose level QTL 50 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303579 Insul12 Insulin level QTL 12 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303580 Gluco49 Glucose level QTL 49 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303581 Bw85 Body weight QTL 85 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303582 Gluco53 Glucose level QTL 53 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303584 Gluco55 Glucose level QTL 55 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303585 Bw86 Body weight QTL 86 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303586 Gluco52 Glucose level QTL 52 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303587 Bw93 Body weight QTL 93 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303589 Bw87 Body weight QTL 87 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303591 Gluco41 Glucose level QTL 41 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303592 Gluco51 Glucose level QTL 51 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303593 Gluco46 Glucose level QTL 46 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312611|PMID:19697080 20090826 RGD 2303640 WAG/RijCmcr strain DOID:3770 pulmonary fibrosis MODEL: induced IAGP D RGD:2303635|PMID:18470747 20090220 RGD whole thorax irradiation 2303759 WT/Jtt whitish teeth rat strain DOID:2187 amelogenesis imperfecta IAGP D RGD:2303758|PMID:17710440 20090225 RGD 2303759 WT/Jtt whitish teeth rat strain DOID:9002504 Odontogenic Cysts IAGP D RGD:2303758|PMID:17710440 20090225 RGD 2303792 WTC.ZI-Atrnzi/Kyo strain DOID:9000495 Tremor IAGP D RGD:67998|PMID:11209055 20090209 RGD 2303824 Usp43 ubiquitin specific peptidase 43 gene DOID:630 genetic disease ISO RGD:1317758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2303986 WKAH.LEC-Atp7bhts/Tj strain DOID:2697 renal adenoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD 2303986 WKAH.LEC-Atp7bhts/Tj strain DOID:686 liver carcinoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD 2303986 WKAH.LEC-Atp7bhts/Tj strain DOID:9007188 Liver Neoplasms onset IAGP D RGD:1302456|PMID:11509115 20191119 RGD compared to LEC/Tj; 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0060017 CD3epsilon deficiency ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0080690 RASopathy ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0081330 glycogen storage disease Ib ISO RGD:736987 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0110651 long QT syndrome 10 ISO RGD:736987 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0111971 immunodeficiency 18 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:7240710 20140911 OMIM 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:10935641|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:21883749|PMID:21926461|PMID:22039266|PMID:23336327|PMID:24216686|PMID:24290291|PMID:24910257|PMID:25344390|PMID:25373860|PMID:25741868|PMID:26822028|PMID:27807805|PMID:28492532|PMID:31031743|PMID:8490660|PMID:9536098 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:0111973 immunodeficiency 17 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:1059 intellectual disability ISO RGD:736987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:12236 primary biliary cholangitis ISO RGD:736987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:3042 allergic contact dermatitis ISO RGD:736987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:3602 toxic encephalopathy ISO RGD:736987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:409 liver disease ISO RGD:736987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:736987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15546002 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:736987 D RGD:1549420|PMID:14602880 19990101 RGD 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:627 severe combined immunodeficiency ISO RGD:736987 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:630 genetic disease ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:9000795 Immunodeficiency 104 ISO RGD:736987 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:28492532 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736987 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2304 Cd3d CD3 delta subunit of T-cell receptor complex gene DOID:9007661 Dwarfism ISO RGD:736987 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2304039 WIC-Tgrdw/Kts strain DOID:0060870 isolated growth hormone deficiency IAGP D RGD:12880373|PMID:3366187 20170503 RGD 2304039 WIC-Tgrdw/Kts strain DOID:0060870 isolated growth hormone deficiency IAGP D RGD:730133|PMID:11089535 20170503 RGD 2304039 WIC-Tgrdw/Kts strain DOID:1459 hypothyroidism IAGP D RGD:730133|PMID:11089535 20210929 RGD compared to wild type and heterozygotes 2304039 WIC-Tgrdw/Kts strain DOID:1459 hypothyroidism treatment IAGP D RGD:150429798|PMID:16365524 20210929 RGD 2304039 WIC-Tgrdw/Kts strain DOID:9007661 Dwarfism MODEL: spontaneous IAGP D RGD:13605608|PMID:10760744 20180607 RGD 2304039 WIC-Tgrdw/Kts strain DOID:9007661 Dwarfism treatment IAGP D RGD:150429798|PMID:16365524 20210929 RGD 2304047 F344.ZUC-Leprfa/Tj strain DOID:4195 hyperglycemia IAGP D RGD:7394771|PMID:23304119 20131104 RGD at 15 wks of age 2304221 WTC-swh/Kyo strain DOID:14793 hypohidrotic ectodermal dysplasia IAGP D RGD:14398762|PMID:22013926 20190430 RGD 2304242 WTC-Kcnq1dfkKyo strain DOID:10763 hypertension IAGP D RGD:1581602|PMID:16368876 20170411 RGD compared to WTC/Kyo 2304242 WTC-Kcnq1dfkKyo strain DOID:2843 long QT syndrome IAGP D RGD:1581602|PMID:16368876 20191217 RGD compared to WTC/Kyo 2304242 WTC-Kcnq1dfkKyo strain DOID:9001295 Achlorhydria IAGP D RGD:1581602|PMID:16368876 20200124 RGD 2304242 WTC-Kcnq1dfkKyo strain DOID:9008681 Deafness IAGP D RGD:1581602|PMID:16368876 20170411 RGD 2304278 DA-Tg(Alb-HSVtk)5Jmsk strain DOID:9007383 Chemical and Drug Induced Liver Injury induced IAGP XCO:0000341 D RGD:2304249|PMID:14623269 20170630 RGD 2304308 ICR/Ihr strain DOID:83 cataract MODEL: spontaneous IAGP D RGD:9495913|PMID:6873248 20140917 RGD 2304343 LOC100271845 hypothetical protein LOC100271845 gene DOID:630 genetic disease ISO RGD:1602175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2305 Cd247 Cd247 molecule gene DOID:0080600 COVID-19 ISO RGD:736538 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2305 Cd247 Cd247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:7240710 20130221 OMIM 2305 Cd247 Cd247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:16672702|PMID:17170122|PMID:17576681|PMID:25741868|PMID:26542031|PMID:28492532|PMID:9536098 2305 Cd247 Cd247 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736538 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2305 Cd247 Cd247 molecule gene DOID:418 systemic scleroderma ISO RGD:736538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 2305 Cd247 Cd247 molecule gene DOID:630 genetic disease ISO RGD:736538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2305 Cd247 Cd247 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736538 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2305926 Iddm37 Insulin dependent diabetes mellitus QTL 37 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:2313174|PMID:19720792 20120918 RGD 2305971 SHRSP.SHR-(D18Rat73-D18Rat11)/Izm strain DOID:9006024 Hypotension IAGP D RGD:7411685|PMID:23690346 20131119 RGD compared to SHRSP/Izm 2305973 SHRSP.SHR-(D1Rat93-D1Rat269)/Izm strain DOID:9006024 Hypotension IAGP D RGD:7411685|PMID:23690346 20131119 RGD compared to SHRSP/Izm 2306 Cd4 Cd4 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2306 Cd4 Cd4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:27226699|PMID:32364527 20200522 RGD protein:decreased expression:blood, T cell (human) 2306 Cd4 Cd4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:30309200|PMID:32427582 20200618 RGD protein:decreased expression:serum, lung, T cell (human) 2306 Cd4 Cd4 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735603 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2306 Cd4 Cd4 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:735603 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2306 Cd4 Cd4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:7240710 20210505 OMIM 2306 Cd4 Cd4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 79 PMID:25741868|PMID:31781092|PMID:33471124 2306 Cd4 Cd4 molecule gene DOID:10303 sialadenitis treatment IMP D RGD:10059317|PMID:1828009 20150812 RGD 2306 Cd4 Cd4 molecule gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 2306 Cd4 Cd4 molecule gene DOID:12361 Graves' disease ISO RGD:735603 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 2306 Cd4 Cd4 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735603 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 2306 Cd4 Cd4 molecule gene DOID:2988 antiphospholipid syndrome treatment ISO RGD:10309 D RGD:10058961|PMID:7914411 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:630 genetic disease ISO RGD:735603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2306 Cd4 Cd4 molecule gene DOID:7188 autoimmune thyroiditis treatment ISO RGD:10309 D RGD:10058966|PMID:1680568 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:813 septic arthritis treatment IMP D RGD:10058962|PMID:1730259 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:735603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 2306 Cd4 Cd4 molecule gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:10058960|PMID:12010568 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10309 D RGD:10058957|PMID:15479897 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:10058963|PMID:9138014 20150811 RGD protein:decreased expression:T lymphocyte: 2306 Cd4 Cd4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IMP D RGD:10058968|PMID:3097071 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:735603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 2306 Cd4 Cd4 molecule gene DOID:9003223 Corneal Graft Rejection treatment IMP D RGD:10059315|PMID:1358194 20150812 RGD 2306 Cd4 Cd4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:7240710 20180405 OMIM 2306 Cd4 Cd4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Okt4 epitope deficiency PMID:1708753|PMID:1961196|PMID:25741868|PMID:33116287|PMID:7689618 2306 Cd4 Cd4 molecule gene DOID:9004283 Transplant Rejection treatment IMP D RGD:10058956|PMID:1704648 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:10309 D RGD:10058974|PMID:11081762 20150811 RGD 2306 Cd4 Cd4 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735603 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2306 Cd4 Cd4 molecule gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10309 D RGD:10058961|PMID:7914411 20150811 RGD 2306022 KCI/Kyo strain DOID:9008681 Deafness IAGP D RGD:2306012|PMID:19151506 20210909 RGD DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) 2306036 F344-Apcm1Kyo strain DOID:219 colon cancer IAGP D RGD:12792250|PMID:19694754 20170314 RGD 2306041 F344-Scn1am2Kyo strain DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20170315 RGD 2306042 F344-Scn1am1Kyo strain DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20170315 RGD 2306064 MPR/Iar strain DOID:12800 mucopolysaccharidosis VI IAGP D RGD:39131283|PMID:21887218 20200930 RGD 2306064 MPR/Iar strain DOID:12800 mucopolysaccharidosis VI IAGP D RGD:631738|PMID:8575749 20170317 RGD 2306073 WIC-Tg(Wap-GH1)2Mni strain DOID:9970 obesity IAGP D RGD:13593541|PMID:9645676 20180522 RGD 2306529 BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR/Rhw 2306529 BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR/Rhw 2306532 BBDR.F344-(D4Rat27-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306532 BBDR.F344-(D4Rat27-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306533 BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/2Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD 2306534 BBDR.F344-(D4Rat102-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.F344-(D4Rat153-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw 2306534 BBDR.F344-(D4Rat102-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306535 BBDR.F344-(D4Rat253-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.F344-(D4Rat153-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw 2306535 BBDR.F344-(D4Rat253-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306536 BBDR.F344-(D4Arb11-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.F344-(D4Rat153-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw 2306536 BBDR.F344-(D4Arb11-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306537 BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/1Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306538 BBDR.F344-(D4Rat153-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.F344-(D4Rat153-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw 2306538 BBDR.F344-(D4Rat153-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306539 BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/3Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306539 BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/3Rhw strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306540 BBDR.F344-(D4Got33-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306541 BBDR.F344-(D4Rat153-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306542 BBDR.F344-(D4Rat253-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306543 BBDR.F344-(D4Got59-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306543 BBDR.F344-(D4Got59-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306544 BBDR.F344-(D4Rat26-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:614 lymphopenia IAGP D RGD:2306526|PMID:19351909 20090427 RGD 2306544 BBDR.F344-(D4Rat26-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:2306526|PMID:19351909 20090427 RGD compared to BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw 2306545 Iddm39 Insulin dependent diabetes mellitus QTL 39 qtl DOID:9744 type 1 diabetes mellitus resistance IDA D RGD:2306526|PMID:19351909 20090427 RGD 2306547 Iddm38 Insulin dependent diabetes mellitus QTL 38 qtl DOID:9744 type 1 diabetes mellitus resistance IDA D RGD:2306526|PMID:19351909 20090427 RGD 2306717 BBDP/WorSunn strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to ACI and ACI.BBDP-(RT1u)(Gimap5)/Sunn 2306717 BBDP/WorSunn strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:2303106|PMID:19168599 20200302 RGD compared to ACI and ACI.BBDP-(RT1u)(Gimap5)/Sunn 2306719 LOC100294508 dyslexia susceptibility 2-like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605339 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2306719 LOC100294508 dyslexia susceptibility 2-like gene DOID:630 genetic disease ISO RGD:1605339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2306784 Kini:DA,PVG-G12 strain DOID:12842 Guillain-Barre syndrome MODEL IAGP D RGD:2306769|PMID:19299744 20090506 RGD induced by bPNM 2306784 Kini:DA,PVG-G12 strain DOID:9006647 Experimental Autoimmune Neuritis MODEL IAGP D RGD:2306769|PMID:19299744 20090506 RGD induced by bPNM 2306787 Ean3 Experimental allergic neuritis QTL 3 qtl DOID:12842 Guillain-Barre syndrome IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306787 Ean3 Experimental allergic neuritis QTL 3 qtl DOID:9003287 Body Weight Changes IDA D RGD:2306769|PMID:19299744 20090506 RGD 2306787 Ean3 Experimental allergic neuritis QTL 3 qtl DOID:9005532 Muscle Weakness IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306787 Ean3 Experimental allergic neuritis QTL 3 qtl DOID:9006647 Experimental Autoimmune Neuritis IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306789 Ean6 Experimental allergic neuritis QTL 6 qtl DOID:12842 Guillain-Barre syndrome IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306789 Ean6 Experimental allergic neuritis QTL 6 qtl DOID:9005532 Muscle Weakness IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306789 Ean6 Experimental allergic neuritis QTL 6 qtl DOID:9006647 Experimental Autoimmune Neuritis IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306790 Ean1 Experimental allergic neuritis QTL 1 qtl DOID:12842 Guillain-Barre syndrome IAGP D RGD:2306736|PMID:15342198 20090506 RGD 2306790 Ean1 Experimental allergic neuritis QTL 1 qtl DOID:9005532 Muscle Weakness IAGP D RGD:2306736|PMID:15342198 20090506 RGD 2306790 Ean1 Experimental allergic neuritis QTL 1 qtl DOID:9006647 Experimental Autoimmune Neuritis IDA D RGD:2306736|PMID:15342198 20090506 RGD 2306792 Ean4 Experimental allergic neuritis QTL 4 qtl DOID:12842 Guillain-Barre syndrome IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306792 Ean4 Experimental allergic neuritis QTL 4 qtl DOID:9005532 Muscle Weakness IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306792 Ean4 Experimental allergic neuritis QTL 4 qtl DOID:9006647 Experimental Autoimmune Neuritis severity IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306793 Ean5 Experimental allergic neuritis QTL 5 qtl DOID:12842 Guillain-Barre syndrome IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306793 Ean5 Experimental allergic neuritis QTL 5 qtl DOID:9005532 Muscle Weakness IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306793 Ean5 Experimental allergic neuritis QTL 5 qtl DOID:9006647 Experimental Autoimmune Neuritis severity IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306794 Ean2 Experimental allergic neuritis QTL 2 qtl DOID:12842 Guillain-Barre syndrome IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306794 Ean2 Experimental allergic neuritis QTL 2 qtl DOID:9005532 Muscle Weakness IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306794 Ean2 Experimental allergic neuritis QTL 2 qtl DOID:9006647 Experimental Autoimmune Neuritis severity IAGP D RGD:2306769|PMID:19299744 20090506 RGD 2306840 E3.DA-(D4Wox22-D4Got132)(D12Wox5-D12Rat26)/Rhd strain DOID:9002457 Experimental Arthritis susceptibility IMP D RGD:2306838|PMID:19180494 20090508 RGD both collagen- and pristane-induced arthritis 2306850 Pia40 Pristane induced arthritis QTL 40 qtl DOID:9002457 Experimental Arthritis IDA D RGD:2306838|PMID:19180494 20090508 RGD Induced by Pristane 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:0050424 familial adenomatous polyposis ISO RGD:737036 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:737036 D RGD:2289356|PMID:16425351 20080130 RGD mRNA, protein:splice variant, increased expression:large intestine 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16208414|PMID:17349212 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737036 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:24886237 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:10283 prostate cancer disease_progression ISO RGD:737036 D RGD:2289346|PMID:17998819 20080129 RGD DNA:hypermethylation:prostate gland 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:1059 intellectual disability ISO RGD:737036 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:11054 urinary bladder cancer ISO RGD:737036 D RGD:2289357|PMID:16321281 20080130 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:12306 vitiligo ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:13580 cholestasis IEP D RGD:2289372|PMID:16804311 20080131 RGD protein:decreased expression:jejunum, ileum 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:1793 pancreatic cancer ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:2154 nephroblastoma ISO RGD:737036 D RGD:2289361|PMID:12131349 20080130 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:2377 multiple sclerosis ISO RGD:737036 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:2671 transitional cell carcinoma ISO RGD:737036 D RGD:2289363|PMID:10022688 20080130 RGD mRNA:splice variants:kidney pelvis, ureter 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:2773 contact dermatitis ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:2986 IgA glomerulonephritis ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:737036 D RGD:2289356|PMID:16425351 20080130 RGD mRNA, protein:splice variant, increased expression:breast 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:737036 D RGD:2289352|PMID:17059779 20080130 RGD protein:increased expression:breast 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3021 acute kidney failure ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3457 invasive lobular carcinoma ISO RGD:737036 D RGD:2289362|PMID:11245336 20080130 RGD mRNA, protein:splice variants, altered localization:breast 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:37 skin disease ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737036 D RGD:2289356|PMID:16425351 20080130 RGD mRNA, protein:splice variant, increased expression:stomach 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3883 Lynch syndrome ISO RGD:737036 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3910 lung adenocarcinoma ISO RGD:737036 D RGD:2289345|PMID:18091389 20080129 RGD mRNA:splice variants:lung 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737036 D RGD:149735539|PMID:29537891 20210721 RGD mRNA:increased expression:lung (human) 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737036 D RGD:2289360|PMID:12833185 20080130 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:4450 renal cell carcinoma severity ISO RGD:737036 D RGD:2289351|PMID:17284111 20080130 RGD protein:increased expression:kidney 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:5138 leiomyomatosis ISO RGD:737036 D RGD:2296043|PMID:15762960 20080624 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:5154 borna disease IEP D RGD:2289373|PMID:16612977 20080131 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:585 nephrolithiasis ISO RGD:737036 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:630 genetic disease ISO RGD:737036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:769 neuroblastoma ISO RGD:737036 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9000081 Lymphatic Metastasis ISO RGD:737036 D RGD:2289356|PMID:16425351 20080130 RGD associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9000217 Stomach Neoplasms ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9000918 Disease Progression ISO RGD:737036 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:2289347|PMID:18026989 20080129 RGD associated with Carcinoma, Renal Cell;protein:increased expression:kidney 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:2289349|PMID:17991717 20080129 RGD associated with Breast Neoplasm;protein:increased expression:liver 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9002315 Kidney Calculi IEP D RGD:2289370|PMID:16850024 20080131 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9002457 Experimental Arthritis IEP D RGD:2289388|PMID:8639178 20080131 RGD protein:increased expression:joint, macrophage, lymphocyte 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:737036 D RGD:2289345|PMID:18091389 20080129 RGD mRNA:splice variants:ovary 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9002955 Nerve Degeneration ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15191797 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737036 D RGD:2289353|PMID:16998464 20080130 RGD protein:decreased expression:uterine cervix 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737036 D RGD:2289350|PMID:17464868 20080129 RGD mRNA:splice variants:uterine cervix 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9003936 Cardiomegaly IEP D RGD:2289364|PMID:18196276 20080130 RGD protein:increased expression:coronary artery 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9004009 Reperfusion Injury IEP D RGD:2289354|PMID:16786159 20080130 RGD protein:increased expression:kidney 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9004009 Reperfusion Injury IEP D RGD:2289369|PMID:16891795 20080131 RGD protein:increased expression:testis, macrophage 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9006618 Liver Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasm;protein:increased expression:liver PMID:17991717|REF_RGD_ID:2289349 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:737036 D RGD:2289345|PMID:18091389 20080129 RGD mRNA:splice variants:gastrointestinal system 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9007096 Stroke IEP D RGD:2289371|PMID:16837837 20080131 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9007715 Endometrial Neoplasms ISO RGD:737036 D RGD:2289358|PMID:16308159 20080130 RGD mRNA, protein:splice variant, increased expression:endometrium 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737036 D RGD:2296044|PMID:14658589 20080624 RGD protein:decreased expression:endometrium 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9007964 Arsenic Poisoning ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:737036 D RGD:2289345|PMID:18091389 20080129 RGD mRNA:splice variants:breast 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9119 acute myeloid leukemia ISO RGD:737036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9498 pulmonary eosinophilia ISO RGD:10310 D RGD:4145437|PMID:12750406 20101104 RGD 2307 Cd44 CD44 molecule (Indian blood group) gene DOID:9597 Krukenberg carcinoma ISO RGD:737036 D RGD:2289359|PMID:16124061 20080130 RGD protein:increased expression:ovary 2307156 DA/ZtmKini strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000263| XCO:0000280| XCO:0000281,XCO:0000265| XCO:0000266 D RGD:61087|PMID:9600974 20200815 RGD compared to control strain PVG.1AV1/Kini 2307156 DA/ZtmKini strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000263|XCO:0000280|XCO:0000281,XCO:0000265|XCO:0000266 D RGD:629560|PMID:12571866 20191202 RGD compared to control strain PVG.1AV1/Kini 2307156 DA/ZtmKini strain DOID:9002457 Experimental Arthritis MODEL: induced IAGP XCO:0000265 D RGD:61087|PMID:9600974 20200814 RGD compared to LEW.1AV1/Kini control 2307156 DA/ZtmKini strain DOID:9002457 Experimental Arthritis MODEL: induced IAGP XCO:0000265 D RGD:730281|PMID:12915467 20191205 RGD compared to control strains PVG.1AV1/Kini, LEW.1AV1/Kini 2307156 DA/ZtmKini strain DOID:9002457 Experimental Arthritis MODEL: induced IAGP XCO:0000265 D RGD:737659|PMID:8972741 20200814 RGD compared to LEW.1AV1/Kini control 2307156 DA/ZtmKini strain DOID:9002457 Experimental Arthritis severity IAGP XCO:0000265,XCO:0000281 D RGD:737659|PMID:8972741 20200814 RGD compared to LEW.1AV1/Kini 2307156 DA/ZtmKini strain DOID:9002457 Experimental Arthritis susceptibility IAGP XCO:0000265 D RGD:737659|PMID:8972741 20200814 RGD 2307156 DA/ZtmKini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: induced IAGP XCO:0000195 D RGD:1302437|PMID:15240732 20200430 RGD 2307156 DA/ZtmKini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: induced IAGP XCO:0000195 D RGD:4888518|PMID:21041731 20200505 RGD 2307156 DA/ZtmKini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: induced IAGP XCO:0000195 D RGD:4889889|PMID:20856809 20210104 RGD compared to DA.PVG-Eae23 2307156 DA/ZtmKini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: induced IAGP XCO:0000195|XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 2307156 DA/ZtmKini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195 D RGD:1302800|PMID:11486278 20200430 RGD 2307156 DA/ZtmKini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: induced IAGP XCO:0000451 D RGD:14995424|PMID:18444082 20191023 RGD as compared to control strain PVG.1AV1/Kini; neurovirulent Herpes simplex type 1 virus (HSV-1 strain I-2762) 2307156 DA/ZtmKini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: induced IAGP XCO:0000451 D RGD:7240516|PMID:22761571 20210315 RGD 2307156 DA/ZtmKini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: treatment IAGP XCO:0000193 D RGD:7240516|PMID:22761571 20191030 RGD treated with rat Calca (8-32) 2307157 PVG.1AV1/Kini strain DOID:7148 rheumatoid arthritis MODEL: control IAGP XCO:0000280|XCO:0000263|XCO:0000266|XCO:0000281,XCO:0000265 D RGD:629560|PMID:12571866 20191202 RGD compared to DA/ZtmKini 2307157 PVG.1AV1/Kini strain DOID:848 arthritis MODEL: control IAGP XCO:0000265 D RGD:730281|PMID:12915467 20191205 RGD compared to inducible strain DA/ZtmKini 2307157 PVG.1AV1/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: control IAGP XCO:0000195,XCO:0000264 D RGD:6892695|PMID:20072140 20201216 RGD compared to PVG.LEW and PVG 2307157 PVG.1AV1/Kini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: control IAGP XCO:0000451 D RGD:14995424|PMID:18444082 20191023 RGD as compared to DA/ZtmKini 2307159 SHRSR.SHRSP-(Klk1-Mt1-ps1)/Bbb strain DOID:576 proteinuria induced IAGP XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030 D RGD:2307158|PMID:16835352 20090520 RGD compared to SHRSR/Bbb 2307161 SHRSR.SHRSP-(D1Rat134-Mt1-ps1)/Bbb strain DOID:576 proteinuria induced IAGP XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030 D RGD:2307158|PMID:16835352 20090520 RGD compared to SHRSR/Bbb 2307166 SHRSP.SHRSR-(Klk1-Mt1-ps1)/Bbb strain DOID:576 proteinuria induced IAGP XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030 D RGD:2307158|PMID:16835352 20191211 RGD compared to SHRSR/Bbb 2307167 SHRSP.SHRSR-(Klk1-D1Mit3)/Bbb strain DOID:576 proteinuria induced IAGP XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030 D RGD:2307158|PMID:16835352 20191211 RGD compared to SHRSR/Bbb 2307168 SHRSR/Bbb Spontaneously Hypertensive Rat, Stroke Resistant strain DOID:9007096 Stroke MODEL: control IAGP XCO:0000022, XCO:0000164, XCO:0000032, XCO:0000030 D RGD:2307158|PMID:16835352 20191211 RGD compared to SHRSP/Bbb 2307169 SHRSP.SHRSR-(D1Rat134-Mt1-ps1)/Bbb strain DOID:576 proteinuria induced IAGP XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030 D RGD:2307158|PMID:16835352 20191211 RGD compared to SHRSR/Bbb 2307172 Activ4 Activity QTL 4 qtl DOID:6088 acute stress disorder IAGP D RGD:2306974|PMID:19089625 20160106 RGD 2307174 Activ3 Activity QTL 3 qtl DOID:6088 acute stress disorder IAGP D RGD:2306974|PMID:19089625 20160106 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:730884 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080600 COVID-19 ISO RGD:730884 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0080600 COVID-19 susceptibility ISO RGD:730884 D RGD:35668862|PMID:32379894 20200709 RGD DNA:polymorphism:cds:allele A, allele O (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0081097 Rafiq syndrome ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:0081267 graft-versus-host disease ISO RGD:730884 D RGD:11100006|PMID:3289150 20160613 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:730884 D RGD:35668862|PMID:32379894 20200709 RGD associated with COVID-19; DNA:polymorphism:cds:allele A (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:11162 respiratory failure ISO RGD:730884 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1240 leukemia susceptibility ISO RGD:730884 D RGD:11100002|PMID:18426641 20160613 RGD DNA:hypermethylation:promoter: 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:730884 D RGD:5128833|PMID:9036208 20110318 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:730884 D RGD:39938831|PMID:18003641 20201013 RGD DNA:SNPs,haplotype:multiple 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730884 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1496 echinococcosis ISO RGD:730884 D RGD:5128834|PMID:2142987 20110318 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1724 duodenal ulcer ISO RGD:730884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1793 pancreatic cancer ISO RGD:730884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648918|PMID:26098869 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:1793 pancreatic cancer ISO RGD:730884 D RGD:2317511|PMID:20103627 20100407 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2237 hepatitis susceptibility ISO RGD:730884 D RGD:35668862|PMID:32379894 20200709 RGD associated with COVID-19, DNA:polymorphism:cds:allele A (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2841 asthma ISO RGD:730884 D RGD:5128831|PMID:16008680 20110318 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2841 asthma no_association ISO RGD:730884 D RGD:5128835|PMID:19771478 20110318 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:730884 D RGD:5128832|PMID:15784866 20110318 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:3393 coronary artery disease ISO RGD:730884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:3652 Leigh disease ISO RGD:730884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:4001 ovarian carcinoma ISO RGD:730884 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:4948 gallbladder carcinoma ISO RGD:730884 D RGD:2317512|PMID:7795450 20100407 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:552 pneumonia severity ISO RGD:730884 D RGD:39938844|PMID:4375858 20201013 RGD DNA:polymorphism:cds:allele A (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:583 hemolytic anemia ISO RGD:730884 D RGD:11100010|PMID:3136561 20160613 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9000528 Coronary Disease ISO RGD:730884 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:730884 D RGD:39938844|PMID:4375858 20201014 RGD DNA:polymorphism:cds:allele AB (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001488 Human Influenza ISO RGD:730884 D RGD:5128836|PMID:6189297 20110318 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001488 Human Influenza susceptibility ISO RGD:730884 D RGD:39938844|PMID:4375858 20201014 RGD DNA:polymorphism:cds:allele AB (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9001827 Critical Illness ISO RGD:730884 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:730884 D RGD:11100013|PMID:15735796 20160613 RGD DNA:polymorphism:: 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9004484 Sepsis severity ISO RGD:730884 D RGD:39938844|PMID:4375858 20201013 RGD DNA:polymorphism:cds:allele A (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730884 D RGD:39938835|PMID:22321886 20201013 RGD associated with Chronic Hepatitis B 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:730884 D RGD:11100003|PMID:19274076 20160613 RGD 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9007096 Stroke ISO RGD:730884 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:730884 D RGD:38455983|PMID:22464692 20200810 RGD DNA:polymorphism:cds:allele B (human) 2307241 Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730884 D RGD:11100012|PMID:17065136 20160613 RGD 2307300 LEW.1AV1/Kini strain DOID:848 arthritis MODEL: control IAGP XCO:0000265 D RGD:730281|PMID:12915467 20191205 RGD compared to inducible strain DA/ZtmKini 2307300 LEW.1AV1/Kini strain DOID:9002457 Experimental Arthritis MODEL: control IAGP XCO:0000265 D RGD:61087|PMID:9600974 19990101 RGD compared to DA/ZtmKini 2307300 LEW.1AV1/Kini strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265, XCO:0000281 D RGD:737659|PMID:8972741 19990101 RGD 2307300 LEW.1AV1/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: induced IAGP XCO:0000195,XCO:0000264 D RGD:6892695|PMID:20072140 20201216 RGD compared to PVG.1AV1 2307318 BDIX/Ifz strain DOID:5940 malignant peripheral nerve sheath tumor sexual_dimorphism IAGP D RGD:11556249|PMID:21427360 20211222 RGD 2308 Cd47 Cd47 molecule gene DOID:3312 bipolar disorder ISO RGD:737350 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 2308 Cd47 Cd47 molecule gene DOID:630 genetic disease ISO RGD:737350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2308886 SS/HsdMcwiCrl strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 2309 Cd5 Cd5 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2309 Cd5 Cd5 molecule gene DOID:1059 intellectual disability ISO RGD:736702 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2309 Cd5 Cd5 molecule gene DOID:630 genetic disease ISO RGD:736702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2309 Cd5 Cd5 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 2309 Cd5 Cd5 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 2310 Cd53 Cd53 molecule gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:737207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 2310 Cd53 Cd53 molecule gene DOID:12849 autistic disorder ISO RGD:737207 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2310 Cd53 Cd53 molecule gene DOID:630 genetic disease ISO RGD:737207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2310 Cd53 Cd53 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737207 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2310 Cd53 Cd53 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737207 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 2311 Cd59b CD59b molecule gene DOID:0080199 colorectal carcinoma IMP D RGD:1600485|PMID:12909127 20070309 RGD 2311 Cd59b CD59b molecule gene DOID:0080998 acute necrotizing pancreatitis severity IEP D RGD:1600479|PMID:16425382 20070309 RGD protein:decreased expression:pancreas, acinar cell 2311 Cd59b CD59b molecule gene DOID:1059 intellectual disability ISO RGD:736600 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2311 Cd59b CD59b molecule gene DOID:1380 endometrial cancer ISO RGD:736600 D RGD:2293548|PMID:10637067 20100629 RGD protein:increased expression:endometrium 2311 Cd59b CD59b molecule gene DOID:1407 anterior uveitis IDA D RGD:1600478|PMID:16751365 20070309 RGD mRNA, protein:increased expression:eye 2311 Cd59b CD59b molecule gene DOID:2394 ovarian cancer ISO RGD:736600 D RGD:2306066|PMID:15726105 20100629 RGD 2311 Cd59b CD59b molecule gene DOID:2394 ovarian cancer ISO RGD:736600 D RGD:2326189|PMID:19254481 20100629 RGD 2311 Cd59b CD59b molecule gene DOID:2527 nephrosis IMP D RGD:1600482|PMID:15843577 20070309 RGD 2311 Cd59b CD59b molecule gene DOID:2921 glomerulonephritis IMP D RGD:1600500|PMID:7523753 20070309 RGD 2311 Cd59b CD59b molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:736600 D RGD:2326192|PMID:12898600 20100629 RGD 2311 Cd59b CD59b molecule gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736600 D RGD:151660329|PMID:32663515 20220303 RGD protein:increased expression:blood (human) 2311 Cd59b CD59b molecule gene DOID:557 kidney disease ISO RGD:736600 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618666 2311 Cd59b CD59b molecule gene DOID:5844 myocardial infarction IEP D RGD:1600501|PMID:7515561 20070309 RGD protein:decreased expression:myocardium 2311 Cd59b CD59b molecule gene DOID:630 genetic disease ISO RGD:736600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2311 Cd59b CD59b molecule gene DOID:8869 neuromyelitis optica severity IMP D RGD:13792592|PMID:28212662 20180924 RGD 2311 Cd59b CD59b molecule gene DOID:8947 diabetic retinopathy IEP D RGD:1600487|PMID:12453906 20070309 RGD protein:decreased expression:retina 2311 Cd59b CD59b molecule gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:1600486|PMID:12483994 20070309 RGD protein:decreased expression:liver 2311 Cd59b CD59b molecule gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:7240710 20130221 OMIM 2311 Cd59b CD59b molecule gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy PMID:1382994|PMID:23149847|PMID:24382084|PMID:25741868 2311 Cd59b CD59b molecule gene DOID:9002457 Experimental Arthritis IDA D RGD:1600483|PMID:14519760 20070309 RGD 2311 Cd59b CD59b molecule gene DOID:9004001 Facial Nerve Injuries IEP D RGD:1600495|PMID:9846834 20070309 RGD mRNA, protein:increased expression:facial VII nucleus 2311 Cd59b CD59b molecule gene DOID:9004009 Reperfusion Injury IDA D RGD:1600493|PMID:10530491 20070309 RGD 2311 Cd59b CD59b molecule gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:1600494|PMID:10450801 20070309 RGD protein:increased expression:Schwann cell (rat) 2311 Cd59b CD59b molecule gene DOID:9007472 Skin Manifestations ISO RGD:736600 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31618666 2311051 SHRSP/A3NCrl Stroke Prone Rats strain DOID:10763 hypertension induced IAGP XCO:0000164,XCO:0000025 D RGD:25824851|PMID:22783192 20200728 RGD compared to standard rat chow fed SHRSP/A3NCrl 2311051 SHRSP/A3NCrl Stroke Prone Rats strain DOID:3526 cerebral infarction induced IAGP XCO:0000704 D RGD:27095946|PMID:29486300 20200728 RGD compared to sham operated SHRSP/A3NCrl 2311051 SHRSP/A3NCrl Stroke Prone Rats strain DOID:9000363 Hematuria disease_progression IAGP D RGD:30296658|PMID:22031827 20200831 RGD compared to Crl:WI Wistar rats 2311051 SHRSP/A3NCrl Stroke Prone Rats strain DOID:9003426 Glycosuria disease_progression IAGP D RGD:30296658|PMID:22031827 20200831 RGD compared to Crl:WI Wistar rats 2311051 SHRSP/A3NCrl Stroke Prone Rats strain DOID:9004303 Tubulointerstitial Fibrosis susceptibility IAGP D RGD:38596284|PMID:27062392 20200903 RGD 2311072 FHH/EurMcwiCrl strain DOID:0050851 glomerulosclerosis IAGP D RGD:25314268|PMID:19420905 20210329 RGD compared to LEW 2311072 FHH/EurMcwiCrl strain DOID:10763 hypertension IAGP D RGD:25314268|PMID:19420905 20210329 RGD compared to LEW 2311072 FHH/EurMcwiCrl strain DOID:576 proteinuria IAGP D RGD:25314268|PMID:19420905 20210329 RGD compared to LEW 2311072 FHH/EurMcwiCrl strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 2311078 Crl:CD-Hrhr CD hairless rats strain DOID:987 alopecia IAGP D RGD:150520038|PMID:20201958 20211022 RGD DNA:deletion:cds:exon 3 (rat) 2311260 Kiaa0040 KIAA0040 ortholog gene DOID:1540 parathyroid carcinoma ISO RGD:2290033 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2311260 Kiaa0040 KIAA0040 ortholog gene DOID:3755 antithrombin III deficiency ISO RGD:2290033 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 2311260 Kiaa0040 KIAA0040 ortholog gene DOID:630 genetic disease ISO RGD:2290033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2311260 Kiaa0040 KIAA0040 ortholog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 2311260 Kiaa0040 KIAA0040 ortholog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2290033 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2311261 Ctxn2 cortexin 2 gene DOID:14323 Marfan syndrome ISO RGD:1351200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 2311261 Ctxn2 cortexin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351200 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2311261 Ctxn2 cortexin 2 gene DOID:630 genetic disease ISO RGD:1351200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2311261 Ctxn2 cortexin 2 gene DOID:9256 colorectal cancer ISO RGD:1351200 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 2311471 LOC100302465 hypothetical LOC100302465 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313898 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 2311471 LOC100302465 hypothetical LOC100302465 gene DOID:630 genetic disease ISO RGD:1313898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2311609 Mettl9 methyltransferase 9, His-X-His N1-histidine gene DOID:0080600 COVID-19 ISO RGD:1602890 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2311609 Mettl9 methyltransferase 9, His-X-His N1-histidine gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1602890 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 2311609 Mettl9 methyltransferase 9, His-X-His N1-histidine gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1602890 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 2311609 Mettl9 methyltransferase 9, His-X-His N1-histidine gene DOID:630 genetic disease ISO RGD:1602890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2311610 Cox16 cytochrome c oxidase assembly factor COX16 gene DOID:630 genetic disease ISO RGD:1321882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2311610 Cox16 cytochrome c oxidase assembly factor COX16 gene DOID:9008899 Mitochondrial Complex IV Deficiency, Nuclear Type 22 ISO RGD:1321882 D RGD:7240710 20210616 OMIM 2311610 Cox16 cytochrome c oxidase assembly factor COX16 gene DOID:9008899 Mitochondrial Complex IV Deficiency, Nuclear Type 22 ISO RGD:1321882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 PMID:33169484 2312 Cd6 Cd6 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2312 Cd6 Cd6 molecule gene DOID:1059 intellectual disability ISO RGD:1351600 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2312 Cd6 Cd6 molecule gene DOID:2377 multiple sclerosis ISO RGD:1351600 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525953|PMID:24076602 2312 Cd6 Cd6 molecule gene DOID:630 genetic disease ISO RGD:1351600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2312352 LEW.1N strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000263 D RGD:61088|PMID:8909256 20200805 RGD 2312352 LEW.1N strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292 D RGD:2306736|PMID:15342198 20200603 RGD 2312418 Kidm41 Kidney mass QTL 41 qtl DOID:4780 anti-basement membrane glomerulonephritis IAGP D RGD:2312387|PMID:19448344 20090812 RGD anti-GBM monoclonal antibody, b35 2312420 Pur17 Proteinuria QTL 17 qtl DOID:4780 anti-basement membrane glomerulonephritis IAGP D RGD:2312387|PMID:19448344 20090812 RGD anti-GBM monoclonal antibody, b35 2312420 Pur17 Proteinuria QTL 17 qtl DOID:576 proteinuria IAGP D RGD:2312387|PMID:19448344 20090812 RGD anti-GBM monoclonal antibody, b35 2312447 SD-Tg(Pmp22)Kan strain DOID:10595 Charcot-Marie-Tooth disease MODEL IMP D RGD:2312445|PMID:8630243 20090817 RGD 2312447 SD-Tg(Pmp22)Kan strain DOID:9005246 Paralysis disease_progression IMP D RGD:2312445|PMID:8630243 20090817 RGD started at 4 wks of age 2312447 SD-Tg(Pmp22)Kan strain DOID:9006230 Neurologic Gait Disorders IMP D RGD:2312445|PMID:8630243 20090817 RGD 2312473 BDIX/OrlCrl BDIX Rats strain DOID:0060108 brain glioma treatment IDA D RGD:38676484|PMID:23079672 20210621 RGD 2312473 BDIX/OrlCrl BDIX Rats strain DOID:9002445 Anal Sphincter Dysplasia treatment IAGP D RGD:150521711|PMID:29391927 20211117 RGD 2312473 BDIX/OrlCrl BDIX Rats strain DOID:9006618 Liver Metastasis IAGP D RGD:150523762|PMID:23136993 20211118 RGD 2312473 BDIX/OrlCrl BDIX Rats strain DOID:9006618 Liver Metastasis treatment IAGP D RGD:149735344|PMID:32156510 20210716 RGD 2312473 BDIX/OrlCrl BDIX Rats strain DOID:9006618 Liver Metastasis treatment IAGP D RGD:150526807|PMID:10431686 20211201 RGD 2312558 Glom17 Glomerulus QTL 17 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312560 Pur20 Proteinuria QTL 20 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312560 Pur20 Proteinuria QTL 20 qtl DOID:576 proteinuria IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312562 Pur18 Proteinuria QTL 18 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312562 Pur18 Proteinuria QTL 18 qtl DOID:576 proteinuria IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312564 Glom18 Glomerulus QTL 18 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312566 Glom20 Glomerulus QTL 20 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312567 Glom19 Glomerulus QTL 19 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312568 Glom21 Glomerulus QTL 21 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312569 Pur19 Proteinuria QTL 19 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312569 Pur19 Proteinuria QTL 19 qtl DOID:576 proteinuria IAGP D RGD:2312422|PMID:18682577 20090821 RGD 2312582 Pcdhgc5 protocadherin gamma subfamily C, 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353179 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 2312582 Pcdhgc5 protocadherin gamma subfamily C, 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353179 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2312582 Pcdhgc5 protocadherin gamma subfamily C, 5 gene DOID:630 genetic disease ISO RGD:1353179 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2312582 Pcdhgc5 protocadherin gamma subfamily C, 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353179 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2312582 Pcdhgc5 protocadherin gamma subfamily C, 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353179 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2312598 Bp340 Blood pressure QTL 340 qtl DOID:10763 hypertension IAGP D RGD:2312571|PMID:19620519 20090824 RGD 2312600 Bp341 Blood pressure QTL 341 qtl DOID:10763 hypertension IAGP D RGD:2312571|PMID:19620519 20090824 RGD 2312609 MWF-Chr 8SHR/Rkb strain DOID:0050851 glomerulosclerosis IAGP D RGD:2312602|PMID:18647879 20191220 RGD as compared to SHR/FubRkb 2312659 Slep7 Serum leptin concentration QTL 7 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312660 Bw95 Body weight QTL 95 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312662 Slep8 Serum leptin concentration QTL 8 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312663 Slep9 Serum leptin concentration QTL 9 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312664 Scl62 Serum cholesterol level QTL 62 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312664 Scl62 Serum cholesterol level QTL 62 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312666 Insul16 Insulin level QTL 16 qtl DOID:2018 hyperinsulinism IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312666 Insul16 Insulin level QTL 16 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312668 Scl65 Serum cholesterol level QTL 65 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312668 Scl65 Serum cholesterol level QTL 65 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312669 Stl23 Serum triglyceride level QTL 23 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312669 Stl23 Serum triglyceride level QTL 23 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312670 Bw94 Body weight QTL 94 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312671 Scl64 Serum cholesterol level QTL 64 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312671 Scl64 Serum cholesterol level QTL 64 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312672 Insul15 Insulin level QTL 15 qtl DOID:2018 hyperinsulinism IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312672 Insul15 Insulin level QTL 15 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312673 Scl63 Serum cholesterol level QTL 63 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2312673 Scl63 Serum cholesterol level QTL 63 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:2312642|PMID:19584880 20090828 RGD 2313 Cd74 CD74 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2313 Cd74 CD74 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 2313 Cd74 CD74 molecule gene DOID:630 genetic disease ISO RGD:1350471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2313 Cd74 CD74 molecule gene DOID:9000918 Disease Progression ISO RGD:1350471 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 2313 Cd74 CD74 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2313 Cd74 CD74 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:1350471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16799971 2313 Cd74 CD74 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2313 Cd74 CD74 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1350471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 2313046 Bss78 Bone structure and strength QTL 78 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313048 Bss84 Bone structure and strength QTL 84 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313049 Bss72 Bone structure and strength QTL 72 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313051 Bss57 Bone structure and strength QTL 57 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313053 Bss51 Bone structure and strength QTL 51 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313055 Bw96 Body weight QTL 96 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313057 Bss76 Bone structure and strength QTL 76 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313059 Bss55 Bone structure and strength QTL 55 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313060 Bss71 Bone structure and strength QTL 71 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313062 Bmd73 Bone mineral density QTL 73 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313064 Bmd71 Bone mineral density QTL 71 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313065 Bss67 Bone structure and strength QTL 67 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313066 Bss63 Bone structure and strength QTL 63 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313067 Bss77 Bone structure and strength QTL 77 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313069 Bss68 Bone structure and strength QTL 68 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313070 Bss52 Bone structure and strength QTL 52 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313072 Bss53 Bone structure and strength QTL 53 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313073 Bmd75 Bone mineral density QTL 75 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313075 Bss66 Bone structure and strength QTL 66 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313076 Bss74 Bone structure and strength QTL 74 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313077 Bss69 Bone structure and strength QTL 69 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313078 Bss54 Bone structure and strength QTL 54 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313079 Bss73 Bone structure and strength QTL 73 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313080 Bss65 Bone structure and strength QTL 65 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313081 Bss64 Bone structure and strength QTL 64 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313082 Bss85 Bone structure and strength QTL 85 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313083 Bmd74 Bone mineral density QTL 74 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313084 Bss83 Bone structure and strength QTL 83 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313085 Bss59 Bone structure and strength QTL 59 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313086 Bss60 Bone structure and strength QTL 60 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313087 Bmd80 Bone mineral density QTL 80 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313088 Bss75 Bone structure and strength QTL 75 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313089 Bss81 Bone structure and strength QTL 81 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313090 Bmd69 Bone mineral density QTL 69 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313092 Bmd72 Bone mineral density QTL 72 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313093 Bmd77 Bone mineral density QTL 77 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313094 Bss58 Bone structure and strength QTL 58 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313095 Bss62 Bone structure and strength QTL 62 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313096 Bmd78 Bone mineral density QTL 78 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313097 Bss70 Bone structure and strength QTL 70 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313098 Bmd70 Bone mineral density QTL 70 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313099 Bss56 Bone structure and strength QTL 56 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313100 Bss82 Bone structure and strength QTL 82 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313101 Bmd76 Bone mineral density QTL 76 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313102 Bmd79 Bone mineral density QTL 79 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313103 Bss80 Bone structure and strength QTL 80 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313104 Bss61 Bone structure and strength QTL 61 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313105 Bss79 Bone structure and strength QTL 79 qtl DOID:11476 osteoporosis IAGP D RGD:2312767|PMID:19113924 20090909 RGD 2313181 LEW.1WR1/WorBrm strain DOID:848 arthritis induced IAGP XCO:0000265,XCO:0000262 D RGD:2313175|PMID:16123363 20090914 RGD 2313181 LEW.1WR1/WorBrm strain DOID:9005643 Experimental Diabetes Mellitus induced IAGP XCO:0000235 D RGD:2313175|PMID:16123363 20090914 RGD 2313181 LEW.1WR1/WorBrm strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292|XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 2313189 Fcgbp Fc gamma binding protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 2313189 Fcgbp Fc gamma binding protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2313189 Fcgbp Fc gamma binding protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2313189 Fcgbp Fc gamma binding protein gene DOID:2340 craniosynostosis ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2313189 Fcgbp Fc gamma binding protein gene DOID:630 genetic disease ISO RGD:1350128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2313189 Fcgbp Fc gamma binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1350128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2313189 Fcgbp Fc gamma binding protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2313189 Fcgbp Fc gamma binding protein gene DOID:9269 maple syrup urine disease ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2313189 Fcgbp Fc gamma binding protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 2313588 SD-Tg(Ins2-IAPP)Soel strain DOID:4195 hyperglycemia IMP D RGD:2313576|PMID:15161755 20091002 RGD 2313588 SD-Tg(Ins2-IAPP)Soel strain DOID:9352 type 2 diabetes mellitus IMP D RGD:2313576|PMID:15161755 20091002 RGD 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:0080546 non-alcoholic fatty liver MODEL IMP D RGD:2313691|PMID:15809359 20091009 RGD compared to SHR/OlaIpcv; 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:10603 glucose intolerance MODEL: age-related IMP XCO:0000244 D RGD:2313691|PMID:15809359 20091009 RGD 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:10763 hypertension IMP D RGD:2313691|PMID:15809359 20091009 RGD 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:2018 hyperinsulinism induced IMP XCO:0000244 D RGD:2313691|PMID:15809359 20091009 RGD 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:4195 hyperglycemia induced IMP XCO:0000244 D RGD:2313691|PMID:15809359 20091009 RGD 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:9006599 Hypertriglyceridemia induced IMP XCO:0000244 D RGD:2313691|PMID:15809359 20091009 RGD 2313693 SHR-Tg(PEPCK-SREBF1)2Ipcv strain DOID:9006646 Metabolic Syndrome MODEL: induced IMP XCO:0000244 D RGD:2313691|PMID:15809359 20091009 RGD 2313734 SD-Tg(H1/tetO-RNAi:Insr)29Bdr strain DOID:9352 type 2 diabetes mellitus induced IMP CHEBI:50845 D RGD:2307333|PMID:19340286 20091013 RGD 2313735 SD-Tg(H1/tetO-RNAi:Insr)14Bdr strain DOID:9352 type 2 diabetes mellitus induced IMP CHEBI:50845 D RGD:2307333|PMID:19340286 20091013 RGD 2313854 Bp343 Blood pressure QTL 343 qtl DOID:10763 hypertension no_association IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313854 Bp343 Blood pressure QTL 343 qtl DOID:10824 malignant hypertension IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313854 Bp343 Blood pressure QTL 343 qtl DOID:10824 malignant hypertension IDA D RGD:619627|PMID:10432379 20130711 RGD 2313854 Bp343 Blood pressure QTL 343 qtl DOID:11832 visual epilepsy IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313854 Bp343 Blood pressure QTL 343 qtl DOID:9005274 Polyuria IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313856 Bp342 Blood pressure QTL 342 qtl DOID:10763 hypertension no_association IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313856 Bp342 Blood pressure QTL 342 qtl DOID:10824 malignant hypertension IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313856 Bp342 Blood pressure QTL 342 qtl DOID:11832 visual epilepsy IAGP D RGD:619627|PMID:10432379 20091022 RGD 2313856 Bp342 Blood pressure QTL 342 qtl DOID:9005274 Polyuria IAGP D RGD:619627|PMID:10432379 20091022 RGD 2314 Cd80 Cd80 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma IMP D RGD:6902938|PMID:10590132 20120925 RGD 2314 Cd80 Cd80 molecule gene DOID:0060189 ileitis ISO RGD:10316 D RGD:6902902|PMID:22068168 20120920 RGD 2314 Cd80 Cd80 molecule gene DOID:10608 celiac disease ISO RGD:737082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 2314 Cd80 Cd80 molecule gene DOID:1074 kidney failure IEP D RGD:6902939|PMID:16893502 20120925 RGD 2314 Cd80 Cd80 molecule gene DOID:12236 primary biliary cholangitis ISO RGD:737082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 2314 Cd80 Cd80 molecule gene DOID:12306 vitiligo ISO RGD:737082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 2314 Cd80 Cd80 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737082 D RGD:6893670|PMID:21310664 20120917 RGD protein:increased expression:blood, B cell 2314 Cd80 Cd80 molecule gene DOID:2841 asthma ISO RGD:10316 D RGD:5132619|PMID:21440530 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:2841 asthma ISO RGD:10316 D RGD:5132620|PMID:21352203 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:2841 asthma ISO RGD:10316 D RGD:5132621|PMID:21051864 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:3070 high grade glioma IDA D RGD:727266|PMID:10078962 20120920 RGD 2314 Cd80 Cd80 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737082 D RGD:4892292|PMID:19729666 20110603 RGD 2314 Cd80 Cd80 molecule gene DOID:3213 demyelinating disease ISO RGD:737082 D RGD:6893670|PMID:21310664 20120917 RGD protein:increased expression:blood, B cell 2314 Cd80 Cd80 molecule gene DOID:3388 periodontal disease IMP D RGD:6902937|PMID:10657664 20120925 RGD 2314 Cd80 Cd80 molecule gene DOID:4483 rhinitis ISO RGD:10316 D RGD:5132622|PMID:21108691 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:4780 anti-basement membrane glomerulonephritis IMP D RGD:6902936|PMID:10712436 20120925 RGD 2314 Cd80 Cd80 molecule gene DOID:630 genetic disease ISO RGD:737082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2314 Cd80 Cd80 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:737082 D RGD:6893647|PMID:22917707 20120914 RGD protein:increased expression:serum 2314 Cd80 Cd80 molecule gene DOID:874 bacterial pneumonia ISO RGD:10316 D RGD:4892562|PMID:20949109 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10316 D RGD:13702893|PMID:29039143 20180723 RGD 2314 Cd80 Cd80 molecule gene DOID:9001488 Human Influenza ISO RGD:10316 D RGD:5132270|PMID:19922665 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:9001488 Human Influenza ISO RGD:10316 D RGD:5132623|PMID:10604996 20110527 RGD 2314 Cd80 Cd80 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:10316 D RGD:6902903|PMID:22004797 20120920 RGD 2314 Cd80 Cd80 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:6902906|PMID:9379015 20120920 RGD 2314 Cd80 Cd80 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10316 D RGD:2307200|PMID:11160314 20090521 RGD 2314 Cd80 Cd80 molecule gene DOID:9007356 Eczema ISO RGD:737082 D RGD:6893665|PMID:22192168 20120917 RGD DNA:SNP 2314 Cd80 Cd80 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:737082 D RGD:6902898|PMID:20653937 20120920 RGD 2314 Cd80 Cd80 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:737082 D RGD:5132624|PMID:19658094 20110527 RGD 2314009 NMcwi:HS Heterogeneous stock strain DOID:2018 hyperinsulinism IAGP D RGD:6893578|PMID:22947656 20131022 RGD 2314011 Gluco56 Glucose level QTL 56 qtl DOID:4195 hyperglycemia IDA D RGD:2316693|PMID:20068026 20100303 RGD 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2314024|PMID:18421173 20091030 RGD compared to SDT/Jcl rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:2018 hyperinsulinism IAGP D RGD:2314022|PMID:19696902 20091030 RGD compared to SDT rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:4195 hyperglycemia IAGP D RGD:2314022|PMID:19696902 20091030 RGD compared to SDT rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:576 proteinuria IAGP D RGD:2314024|PMID:18421173 20091030 RGD compared to SDT/Jcl rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9005274 Polyuria IAGP D RGD:2314024|PMID:18421173 20091030 RGD compared to SDT/Jcl rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:2314022|PMID:19696902 20091030 RGD compared to SDT rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:2314024|PMID:18421173 20200324 RGD compared to SDT/Jcl rats, accelerated onset 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:2314025|PMID:15725677 20200324 RGD compared to +/+ and +/fa littermates, sexual dimorphism in penetrance 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:2314022|PMID:19696902 20200324 RGD compared to SDT/Jcl rats 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:2314024|PMID:18421173 20200324 RGD compared to SDT/Jcl rats, accelerated onset 2314027 SDT.Cg-Leprfa/Jtt SDT fatty strain DOID:9970 obesity MODEL:spontaneous IAGP D RGD:2314025|PMID:15725677 20091030 RGD compared to +/+ and +/fa littermates 2314162 F344-Oune/Kyo Oune strain DOID:0050568 spondylocostal dysostosis IMP D RGD:10045933|PMID:26090680 20210402 RGD compared to F344 2314163 F344-Kcna1Adms/Kyo ADMS (autosomal dominant myokymia and seizures) rat strain DOID:0050989 episodic ataxia type 1 IAGP D RGD:10047237|PMID:22206926 20170504 RGD 2314163 F344-Kcna1Adms/Kyo ADMS (autosomal dominant myokymia and seizures) rat strain DOID:11832 visual epilepsy IAGP D RGD:10047237|PMID:22206926 20170504 RGD 2314163 F344-Kcna1Adms/Kyo ADMS (autosomal dominant myokymia and seizures) rat strain DOID:9003935 Myokymia IAGP D RGD:10047237|PMID:22206926 20170504 RGD 2314230 F344-Hrkrh/Kyo Hairless Kyoto, Hanako strain DOID:1312 focal segmental glomerulosclerosis IMP D RGD:150520024|PMID:21325752 20211021 RGD 2314230 F344-Hrkrh/Kyo Hairless Kyoto, Hanako strain DOID:576 proteinuria IMP D RGD:150520024|PMID:21325752 20211021 RGD 2314260 Tas2r106 taste receptor, type 2, member 106 gene DOID:630 genetic disease ISO RGD:1347690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2314261 Tas2r116 taste receptor, type 2, member 116 gene DOID:630 genetic disease ISO RGD:30305929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2314262 Tas2r136 taste receptor, type 2, member 136 gene DOID:630 genetic disease ISO RGD:1345755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2314264 Parpbp PARP1 binding protein gene DOID:630 genetic disease ISO RGD:1605996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2314368 F344-Trdk/Kyo Tremor dominant Kyoto strain DOID:4990 essential tremor IMP D RGD:38508907|PMID:28917524 20210715 RGD DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) 2314376 KFRS4/Kyo strain DOID:10629 microphthalmia IAGP D RGD:150429836|PMID:22736458 20211005 RGD compared to heterozygous controls 2314376 KFRS4/Kyo strain DOID:2723 dermatitis treatment IAGP D RGD:150429840|PMID:26454563 20211005 RGD 2314376 KFRS4/Kyo strain DOID:3310 atopic dermatitis sexual_dimorphism IAGP D RGD:150429840|PMID:26454563 20211005 RGD compared to control PVG/Seac rats; more frequent in females 2314376 KFRS4/Kyo strain DOID:83 cataract IAGP D RGD:126925973|PMID:23226368 20210524 RGD 2314381 KFRS5A/Kyo strain DOID:987 alopecia IAGP D RGD:11570415|PMID:20179389 20211021 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del 2314396 LCR/Mco Low-capacity runners strain DOID:9007102 Myocardial Ischemia susceptibility IAGP D RGD:2314392|PMID:11705762 20091112 RGD compared to HCR/Mco 2314396 LCR/Mco Low-capacity runners strain DOID:9970 obesity IAGP D RGD:2314394|PMID:11161005 20091112 RGD compared to HCR/Mco 2314397 HCR/Mco High-capacity runners strain DOID:9007102 Myocardial Ischemia no_association IAGP D RGD:2314392|PMID:11705762 20091112 RGD compared to LCR/Mco 2314414 LEW-Tg(H1/tetO-RNAi:Insr)87Hrjb strain DOID:9352 type 2 diabetes mellitus induced IMP CHEBI:50845 D RGD:2314405|PMID:19017805 20200227 RGD 2314415 LEW-Tg(H1/tetO-RNAi:Insr)4Hrjb strain DOID:9352 type 2 diabetes mellitus induced IMP CHEBI:50845 D RGD:2314405|PMID:19017805 20200227 RGD 2314436 Kdm5d lysine demethylase 5D gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1346764 D RGD:11554173 20190604 CTD CTD Direct Evidence: marker/mechanism 2314436 Kdm5d lysine demethylase 5D gene DOID:12849 autistic disorder ISO RGD:1346764 D RGD:8554872 20190604 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2314437 Ddx3y DEAD box helicase 3, Y-linked gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 2314437 Ddx3y DEAD box helicase 3, Y-linked gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1348882 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism 2314437 Ddx3y DEAD box helicase 3, Y-linked gene DOID:12849 autistic disorder ISO RGD:1348882 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2314530 SS.SHR-(D8Uia1-D8Rat90)/Mco strain DOID:576 proteinuria IAGP D RGD:2314528|PMID:19176703 20091119 RGD 2314531 SHR.SS-(D13Rat1-D13Mgh6)/Mco strain DOID:576 proteinuria IAGP D RGD:2314528|PMID:19176703 20091119 RGD 2314532 SHR.SS-(D8Uia1-D8Rat90)/Mco strain DOID:576 proteinuria IAGP D RGD:2314528|PMID:19176703 20091119 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9005274 Polyuria IAGP D RGD:2314654|PMID:10919858 20091123 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9409 diabetes insipidus IAGP D RGD:150429658|PMID:6717565 20210914 RGD DNA:deletion:cds:exon B (rat) 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9409 diabetes insipidus MODEL: spontaneous IAGP D RGD:2314654|PMID:10919858 20091123 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9409 diabetes insipidus MODEL: spontaneous IAGP D RGD:2314661|PMID:13995944 20210223 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9409 diabetes insipidus MODEL: spontaneous IAGP D RGD:632128|PMID:5692127 20210223 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9409 diabetes insipidus treatment IMP D RGD:150429657|PMID:9396613 20210914 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:2314661|PMID:13995944 20210223 RGD 2314655 BRAT-Avpdi/BluHsd Brattleboro strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:632128|PMID:5692127 20210223 RGD 2314878 Mir592 microRNA 592 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603083 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:28545106 2314878 Mir592 microRNA 592 gene DOID:9256 colorectal cancer ISO RGD:1603083 D RGD:153298906|PMID:27661126 20220728 RGD RNA:increased expression:colorectum 2314882 Mir196b microRNA 196b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2314882 Mir196b microRNA 196b gene DOID:219 colon cancer disease_progression ISO RGD:1350479 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:decreased expression:colon,exosome (human) 2314882 Mir196b microRNA 196b gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350479 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2314882 Mir196b microRNA 196b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2314882 Mir196b microRNA 196b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2314883 Mir675 microRNA 675 gene DOID:0080773 delta beta-thalassemia ISO RGD:2290195 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2314883 Mir675 microRNA 675 gene DOID:12930 dilated cardiomyopathy ameliorates IEP D RGD:156430329|PMID:28430627 20230227 RGD 2314883 Mir675 microRNA 675 gene DOID:9001820 Pulmonary Arterial Hypertension treatment IEP D RGD:156430315|PMID:30240970 20230223 RGD 2314884 Mir615 microRNA 615 gene DOID:10283 prostate cancer ISO RGD:2312878 D RGD:151665098|PMID:29471894 20220310 RGD RNA:decreased expression:prostate gland 2314884 Mir615 microRNA 615 gene DOID:10283 prostate cancer ameliorates ISO RGD:2312878 D RGD:151665098|PMID:29471894 20220310 RGD 2314884 Mir615 microRNA 615 gene DOID:684 hepatocellular carcinoma ISO RGD:2312878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22819824 2314885 Mir146b microRNA 146b gene DOID:3021 acute kidney failure ISO RGD:1603775 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2314885 Mir146b microRNA 146b gene DOID:3393 coronary artery disease ISO RGD:1603775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 2314885 Mir146b microRNA 146b gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1603775 D RGD:41404640|PMID:23588407 20210129 RGD associated with Coxsackievirus Infections 2314885 Mir146b microRNA 146b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1603775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2314885 Mir146b microRNA 146b gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1603775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21789255 2314885 Mir146b microRNA 146b gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:155882541|PMID:19380620 20230127 RGD miRNA:increased expression:heart (rat) 2314885 Mir146b microRNA 146b gene DOID:9256 colorectal cancer ISO RGD:1603775 D RGD:9068941 20220728 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2314885 Mir146b microRNA 146b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603775 D RGD:13702880|PMID:29374012 20200508 RGD RNA:increased expression:arteriole 2314886 Mir489 microRNA 489 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603780 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2314886 Mir489 microRNA 489 gene DOID:9008939 Breast Neoplasms ISO RGD:1603780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2314887 Mir210 microRNA 210 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345765 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2314887 Mir210 microRNA 210 gene DOID:0050729 neutral lipid storage disease ISO RGD:1345765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 2314887 Mir210 microRNA 210 gene DOID:0050852 limb ischemia severity ISO RGD:1607680 D RGD:155882482|PMID:31878120 20230125 RGD 2314887 Mir210 microRNA 210 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345765 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2314887 Mir210 microRNA 210 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2314887 Mir210 microRNA 210 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345765 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2314887 Mir210 microRNA 210 gene DOID:10591 pre-eclampsia ISO RGD:1345765 D RGD:155631283|PMID:22840297 20221031 RGD miRNA:increased expression:chorionic villus (human) 2314887 Mir210 microRNA 210 gene DOID:10591 pre-eclampsia ISO RGD:1345765 D RGD:155882490|PMID:28700503 20230125 RGD miRNA:increased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:10591 pre-eclampsia ISO RGD:1345765 D RGD:155882496|PMID:25017274 20230126 RGD miRNA:increased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1345765 D RGD:155260325|PMID:27746364 20220930 RGD miRNA:increased expression:placenta (human) 2314887 Mir210 microRNA 210 gene DOID:10591 pre-eclampsia severity ISO RGD:1345765 D RGD:155269044|PMID:21388517 20221011 RGD miRNA:increased expression:blood plasma (human) 2314887 Mir210 microRNA 210 gene DOID:11294 arteriovenous malformation ISO RGD:1345765 D RGD:155582214|PMID:23051042 20221013 RGD associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human) 2314887 Mir210 microRNA 210 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1345765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2314887 Mir210 microRNA 210 gene DOID:13129 severe pre-eclampsia severity ISO RGD:1345765 D RGD:155582220|PMID:31487655 20221013 RGD miRNA:increased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:13129 severe pre-eclampsia severity ISO RGD:1345765 D RGD:155582221|PMID:33778218 20221014 RGD miRNA:increased expression:blood plasma (human) 2314887 Mir210 microRNA 210 gene DOID:14330 Parkinson's disease IEP D RGD:41404531|PMID:32326590 20210127 RGD RNA:increased expression: plasma extracellular vesicle 2314887 Mir210 microRNA 210 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345765 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2314887 Mir210 microRNA 210 gene DOID:1712 aortic valve stenosis severity ISO RGD:1345765 D RGD:155269043|PMID:24626394 20221011 RGD miRNA:increased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1345765 D RGD:155598593|PMID:28745794 20221018 RGD associated with lung cancer;miRNA:decreased expression: peripheral blood (human) 2314887 Mir210 microRNA 210 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1345765 D RGD:155598676|PMID:27906445 20221019 RGD associated with cerebral infarction;miRNA:decreased expression: peripheral blood (human) 2314887 Mir210 microRNA 210 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:155269103|PMID:34337881 20221013 RGD 2314887 Mir210 microRNA 210 gene DOID:3526 cerebral infarction severity ISO RGD:1345765 D RGD:155260318|PMID:21622133 20220929 RGD miRNA:decreased expression:blood (human) 2314887 Mir210 microRNA 210 gene DOID:3526 cerebral infarction severity ISO RGD:1345765 D RGD:155260326|PMID:34708885 20220930 RGD miRNA:decreased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:3526 cerebral infarction treatment ISO RGD:1607680 D RGD:155260331|PMID:29111308 20220930 RGD 2314887 Mir210 microRNA 210 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1345765 D RGD:152998954|PMID:27777637 20220708 RGD miRNA:increased expression:sputum (human) 2314887 Mir210 microRNA 210 gene DOID:4449 macular retinal edema ISO RGD:1345765 D RGD:155582223|PMID:35799735 20221014 RGD associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human) 2314887 Mir210 microRNA 210 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1345765 D RGD:155260320|PMID:23449350 20220929 RGD miRNA:increased expression:kidney (human) 2314887 Mir210 microRNA 210 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345765 D RGD:155260320|PMID:23449350 20220929 RGD miRNA:increased expression:kidney (human) 2314887 Mir210 microRNA 210 gene DOID:6000 congestive heart failure ISO RGD:1345765 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2314887 Mir210 microRNA 210 gene DOID:6000 congestive heart failure severity ISO RGD:1345765 D RGD:155269041|PMID:33783502 20221011 RGD associated with Dyspnea; miRNA:increased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1607680 D RGD:155260323|PMID:32155285 20220930 RGD 2314887 Mir210 microRNA 210 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression IMP D RGD:155882465|PMID:24089674 20230124 RGD 2314887 Mir210 microRNA 210 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression ISO RGD:1345765 D RGD:155598592|PMID:29568675 20221017 RGD miRNA:decreased expression:blood serum (human) 2314887 Mir210 microRNA 210 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression ISO RGD:1607680 D RGD:155582222|PMID:33402183 20221014 RGD associated with Brain Injuries;miRNA:increased expression:brain, cerebral hemisphere (human) 2314887 Mir210 microRNA 210 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IMP D RGD:11572290|PMID:26875527 20220930 RGD 2314887 Mir210 microRNA 210 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345765 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2314887 Mir210 microRNA 210 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:155260328|PMID:28661226 20220930 RGD miRNA:increased expression:myocardium (human) 2314887 Mir210 microRNA 210 gene DOID:9007838 Myocardial Reperfusion Injury sexual_dimorphism ISO RGD:1607680 D RGD:155663666|PMID:35296158 20221202 RGD 2314887 Mir210 microRNA 210 gene DOID:9008212 Diabetic Foot ISO RGD:1345765 D RGD:155260332|PMID:34293021 20220930 RGD miRNA:increased expression:blood serum, foot (human) 2314887 Mir210 microRNA 210 gene DOID:9256 colorectal cancer ISO RGD:1345765 D RGD:9068941 20220722 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2314888 Mir196a microRNA 196a gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353191 D RGD:9068941 20200609 RGD DNA:SNP: : (rs11614913) PMID:21692953|REF_RGD_ID:14401595 2314888 Mir196a microRNA 196a gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353191 D RGD:9068941 20200609 RGD associated with hepatitis B, chronic; DNA:SNP: : (rs12304647) PMID:24248733|REF_RGD_ID:14401594 2314888 Mir196a microRNA 196a gene DOID:9000918 Disease Progression EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:27816459 2314888 Mir196a microRNA 196a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353191 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2314888 Mir196a microRNA 196a gene DOID:9074 systemic lupus erythematosus EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:27816459 2314888 Mir196a microRNA 196a gene DOID:9206 Barrett's esophagus ISO RGD:1353191 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 2314889 Mir29b2 microRNA 29b-2 gene DOID:12849 autistic disorder ISO RGD:1343298 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2314889 Mir29b2 microRNA 29b-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2314903 F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb gene DOID:12134 factor VIII deficiency IAGP D RGD:7245964|PMID:20626616 20180525 RGD DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) 2314904 WAG-F8m1Ycb strain DOID:12134 factor VIII deficiency IAGP D RGD:7245964|PMID:20626616 20130617 RGD 2315 Cd81 Cd81 molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2315 Cd81 Cd81 molecule gene DOID:0080773 delta beta-thalassemia ISO RGD:731700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2315 Cd81 Cd81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:7240710 20190327 OMIM 2315 Cd81 Cd81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 PMID:20237408|PMID:25741868|PMID:28492532 2315 Cd81 Cd81 molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2315 Cd81 Cd81 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:731700 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 2315 Cd81 Cd81 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731700 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2315 Cd81 Cd81 molecule gene DOID:1883 hepatitis C ISO RGD:731700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 2315 Cd81 Cd81 molecule gene DOID:630 genetic disease ISO RGD:731700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2315 Cd81 Cd81 molecule gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 2315525 Nemf nuclear export mediator factor gene DOID:0060041 autism spectrum disorder ISO RGD:1317135 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 2315525 Nemf nuclear export mediator factor gene DOID:440 neuromuscular disease ISS RGD:1317136 D RGD:13592920 20220210 MouseDO 2315525 Nemf nuclear export mediator factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317135 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2315525 Nemf nuclear export mediator factor gene DOID:630 genetic disease ISO RGD:1317135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2315525 Nemf nuclear export mediator factor gene DOID:870 neuropathy ISS RGD:1317136 D RGD:13592920 20210722 MouseDO 2315525 Nemf nuclear export mediator factor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317135 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2315525 Nemf nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:7240710 20201202 OMIM 2315525 Nemf nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868|PMID:27431290|PMID:33004807|PMID:33048237 2315526 Prr30 proline rich 30 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 2315526 Prr30 proline rich 30 gene DOID:630 genetic disease ISO RGD:1602815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2316 Cd8a CD8 subunit alpha gene DOID:0050185 erythema multiforme susceptibility ISO RGD:735285 D RGD:124715447|PMID:32433748 20210324 RGD associated with adult T-cell leukemia;mRNA:increased expression:blood (human) 2316 Cd8a CD8 subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735285 D RGD:124715451|PMID:32898168 20210324 RGD mRNA:increased expression:epithelium of nasopharynx (human) 2316 Cd8a CD8 subunit alpha gene DOID:0080600 COVID-19 exacerbates ISO RGD:10317 D RGD:124715452|PMID:32991819 20210324 RGD protein:increased expression:blood, T cell (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735285 D RGD:30309200|PMID:32427582 20200618 RGD protein:decreased expression:serum, lung, T cell (human) 2316 Cd8a CD8 subunit alpha gene DOID:0081292 traumatic brain injury ISO RGD:10317 D RGD:124715446|PMID:31383034 20210324 RGD mRNA:increased expression:brain (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:1024 leprosy exacerbates ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:blood (human) PMID:31784594|REF_RGD_ID:124715449 2316 Cd8a CD8 subunit alpha gene DOID:10534 stomach cancer ISO RGD:735285 D RGD:124715442|PMID:29915957 20210324 RGD associated with Epstein-Barr Virus Infections;mRNA:increased expression:stomach (human) 2316 Cd8a CD8 subunit alpha gene DOID:10534 stomach cancer ameliorates ISO RGD:735285 D RGD:124715443|PMID:30106451 20210324 RGD protein:decreased expression:stomach, T cell (human) 2316 Cd8a CD8 subunit alpha gene DOID:11168 anogenital venereal wart ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 2316 Cd8a CD8 subunit alpha gene DOID:11573 listeriosis disease_progression ISO RGD:10317 D RGD:124715456|PMID:20348006 20210324 RGD protein:increased expression:liver (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:11573 listeriosis exacerbates ISO RGD:10317 D RGD:124715458|PMID:2120126 20210324 RGD protein:decreased expression:spleen, liver (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17950725 2316 Cd8a CD8 subunit alpha gene DOID:399 tuberculosis ISO RGD:735285 D RGD:9068941 20210326 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) PMID:27553407|REF_RGD_ID:124715445 2316 Cd8a CD8 subunit alpha gene DOID:399 tuberculosis susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:blood (human) PMID:26725873|REF_RGD_ID:124715450 2316 Cd8a CD8 subunit alpha gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735285 D RGD:9068941 20210326 RGD PMID:29384862|REF_RGD_ID:124715453 2316 Cd8a CD8 subunit alpha gene DOID:576 proteinuria ISO RGD:10317 D RGD:124715441|PMID:9713350 20210324 RGD associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:630 genetic disease ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2316 Cd8a CD8 subunit alpha gene DOID:8469 influenza ISO RGD:10317 D RGD:124715455|PMID:28355204 20210324 RGD protein:altered expression:lung, T cell (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:8566 herpes simplex ISO RGD:10317 D RGD:124715454|PMID:19151393 20210324 RGD mRNA:increased expression:trigeminal ganglion (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:9000469 Viral Myocarditis ISO RGD:10317 D RGD:124715457|PMID:17113076 20210324 RGD associated with Coxsackievirus Infections;protein:increased expression:myocardium (mouse) 2316 Cd8a CD8 subunit alpha gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:735285 D RGD:9068941 20210326 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29155997|REF_RGD_ID:124715448 2316 Cd8a CD8 subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2316 Cd8a CD8 subunit alpha gene DOID:9006771 Chronic Rhinosinusitis ameliorates ISO RGD:735285 D RGD:124715444|PMID:24639246 20210324 RGD protein:decreased expression:blood, T cell (human) 2316 Cd8a CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:7240710 20130221 OMIM 2316 Cd8a CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:11435463|PMID:16199547|PMID:17576681|PMID:17658607|PMID:21546492|PMID:24033266|PMID:25741868|PMID:26563160|PMID:28492532|PMID:9536098 2316631 F344.GK-(D1Swe8-D1Gpam-1)/Swe strain DOID:10603 glucose intolerance treatment IAGP CHEBI:46631 D RGD:2316628|PMID:19965390 20200225 RGD 2316649 Bp344 Blood pressure QTL 344 qtl DOID:9006024 Hypotension IAGP D RGD:2312639|PMID:19423552 20100219 RGD 2316896 Gluco57 Glucose level QTL 57 qtl DOID:4195 hyperglycemia IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316896 Gluco57 Glucose level QTL 57 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316925 SHR.BN-(D3Rat159-D3Rat1)/Mco strain DOID:9002221 Hyperplasia IAGP D RGD:2316923|PMID:20026763 20100317 RGD 2316927 SHR.BN-(D6Rat40-D6Rat170)/Mco strain DOID:9002221 Hyperplasia IAGP D RGD:2316923|PMID:20026763 20100317 RGD 2316928 SHR.BN-(D3Rat159-D3Rat1)(D6Rat40-D6Rat170)/Mco strain DOID:9002221 Hyperplasia IAGP D RGD:2316923|PMID:20026763 20100317 RGD 2316947 Rf58 Renal function QTL 58 qtl DOID:1074 kidney failure IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316947 Rf58 Renal function QTL 58 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316947 Rf58 Renal function QTL 58 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316949 Gluco60 Glucose level QTL 60 qtl DOID:4195 hyperglycemia IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316949 Gluco60 Glucose level QTL 60 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316950 Scl66 Serum cholesterol level QTL 66 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316950 Scl66 Serum cholesterol level QTL 66 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316952 Pur22 Proteinuria QTL 22 qtl DOID:576 proteinuria IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316952 Pur22 Proteinuria QTL 22 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316954 Rf57 Renal function QTL 57 qtl DOID:1074 kidney failure IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316954 Rf57 Renal function QTL 57 qtl DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316954 Rf57 Renal function QTL 57 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316955 Stl24 Serum triglyceride level QTL 24 qtl DOID:1168 familial hyperlipidemia IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316955 Stl24 Serum triglyceride level QTL 24 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316957 Pur21 Proteinuria QTL 21 qtl DOID:576 proteinuria IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316957 Pur21 Proteinuria QTL 21 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316958 Gluco58 Glucose level QTL 58 qtl DOID:4195 hyperglycemia IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316958 Gluco58 Glucose level QTL 58 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316959 Gluco59 Glucose level QTL 59 qtl DOID:4195 hyperglycemia IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2316959 Gluco59 Glucose level QTL 59 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:2316856|PMID:19584172 20100305 RGD 2317 Cd8b CD8 subunit beta gene DOID:630 genetic disease ISO RGD:736307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2317 Cd8b CD8 subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2317027 Aia22 Adjuvant induced arthritis QTL 22 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317027 Aia22 Adjuvant induced arthritis QTL 22 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317029 Aia19 Adjuvant induced arthritis QTL 19 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317029 Aia19 Adjuvant induced arthritis QTL 19 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317030 Wbc5 White blood cell count QTL 5 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317030 Wbc5 White blood cell count QTL 5 qtl DOID:615 leukopenia IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317032 Ginf2 Gastrointestinal inflammation QTL 2 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317032 Ginf2 Gastrointestinal inflammation QTL 2 qtl DOID:9002805 Enterocolitis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317034 Aia9 Adjuvant induced arthritis QTL 9 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317034 Aia9 Adjuvant induced arthritis QTL 9 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317035 Aia16 Adjuvant induced arthritis QTL 16 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317035 Aia16 Adjuvant induced arthritis QTL 16 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317036 Livw3 Liver weight QTL 3 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317038 Ginf3 Gastrointestinal inflammation QTL 3 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317038 Ginf3 Gastrointestinal inflammation QTL 3 qtl DOID:9002805 Enterocolitis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317039 Aia6 Adjuvant induced arthritis QTL 6 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317039 Aia6 Adjuvant induced arthritis QTL 6 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317040 Aia21 Adjuvant induced arthritis QTL 21 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317040 Aia21 Adjuvant induced arthritis QTL 21 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317041 Aia14 Adjuvant induced arthritis QTL 14 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317041 Aia14 Adjuvant induced arthritis QTL 14 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317042 Aia20 Adjuvant induced arthritis QTL 20 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317042 Aia20 Adjuvant induced arthritis QTL 20 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317043 Aia7 Adjuvant induced arthritis QTL 7 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317043 Aia7 Adjuvant induced arthritis QTL 7 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317044 Aia23 Adjuvant induced arthritis QTL 23 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317044 Aia23 Adjuvant induced arthritis QTL 23 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317045 Aia11 Adjuvant induced arthritis QTL 11 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317045 Aia11 Adjuvant induced arthritis QTL 11 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317046 Aia8 Adjuvant induced arthritis QTL 8 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317046 Aia8 Adjuvant induced arthritis QTL 8 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317047 Wbc4 White blood cell count QTL 4 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317047 Wbc4 White blood cell count QTL 4 qtl DOID:615 leukopenia IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317048 Ginf1 Gastrointestinal inflammation QTL 1 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317048 Ginf1 Gastrointestinal inflammation QTL 1 qtl DOID:9002805 Enterocolitis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317050 Aia24 Adjuvant induced arthritis QTL 24 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317050 Aia24 Adjuvant induced arthritis QTL 24 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317051 Aia18 Adjuvant induced arthritis QTL 18 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317051 Aia18 Adjuvant induced arthritis QTL 18 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317052 Aia17 Adjuvant induced arthritis QTL 17 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317052 Aia17 Adjuvant induced arthritis QTL 17 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317053 Aia25 Adjuvant induced arthritis QTL 25 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317053 Aia25 Adjuvant induced arthritis QTL 25 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317054 Aia12 Adjuvant induced arthritis QTL 12 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317054 Aia12 Adjuvant induced arthritis QTL 12 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317055 Aia10 Adjuvant induced arthritis QTL 10 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317055 Aia10 Adjuvant induced arthritis QTL 10 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317056 Wbc3 White blood cell count QTL 3 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317056 Wbc3 White blood cell count QTL 3 qtl DOID:615 leukopenia IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317057 Aia27 Adjuvant induced arthritis QTL 27 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317057 Aia27 Adjuvant induced arthritis QTL 27 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317058 Aia13 Adjuvant induced arthritis QTL 13 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317058 Aia13 Adjuvant induced arthritis QTL 13 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317059 Aia15 Adjuvant induced arthritis QTL 15 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317059 Aia15 Adjuvant induced arthritis QTL 15 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317060 Aia26 Adjuvant induced arthritis QTL 26 qtl DOID:0050589 inflammatory bowel disease IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317060 Aia26 Adjuvant induced arthritis QTL 26 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:2316974|PMID:19526527 20100311 RGD induced by peptidoglycan-polysaccharide 2317196 DA.PVG.1AV1-(D8Rat146-D8Got145) strain DOID:1289 neurodegenerative disease IAGP D RGD:2317162|PMID:19526058 20100319 RGD 2317197 DA.PVG.1AV1-(D8Rat41-D8Rat24) strain DOID:1289 neurodegenerative disease IAGP D RGD:2317162|PMID:19526058 20100319 RGD 2317201 DA.PVG.1AV1-(D8Rat24-D8Got145) strain DOID:1289 neurodegenerative disease IAGP D RGD:2317162|PMID:19526058 20100319 RGD 2317278 Taiep/Dun strain DOID:2377 multiple sclerosis MODEL:spontaneous IAGP D RGD:9999447|PMID:25883747 20150421 RGD compared to SD 2317278 Taiep/Dun strain DOID:3213 demyelinating disease IAGP D RGD:150429639|PMID:28393430 20210910 RGD progressive with age 2317278 Taiep/Dun strain DOID:3213 demyelinating disease MODEL:spontaneous IAGP D RGD:9999446|PMID:21107138 20150421 RGD compared to SD 2317577 Eae24 Experimental allergic encephalomyelitis QTL 24 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:2317591|PMID:19675581 20100423 RGD 2317586 Eae25 Experimental allergic encephalomyelitis QTL 25 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:2317591|PMID:19675581 20100423 RGD 2317587 Eae26 Experimental allergic encephalomyelitis QTL 26 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:2317591|PMID:19675581 20100423 RGD 2317588 Eae27 Experimental allergic encephalomyelitis QTL 27 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:2317591|PMID:19675581 20100423 RGD 2317590 DA.PVG.1AV1-(D4Rat23-D4Rat108)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis severity IAGP XCO:0000195 D RGD:2317591|PMID:19675581 20100423 RGD Compared to DA/ZtmKini 2317590 DA.PVG.1AV1-(D4Rat23-D4Rat108)/Kini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: induced IAGP XCO:0000451 D RGD:7240516|PMID:22761571 20140429 RGD as compared to control strain PVG.1AV1/Kini; neurovirulent Herpes simplex type 1 virus (HSV-1 strain I-2762) 2317595 DA.PVG.1AV1-(D4Rat23-D4Mit12)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195 D RGD:2317591|PMID:19675581 20100423 RGD Compared to DA/ZtmKini 2317596 DA.PVG.1AV1-(D4Rat103-D4Mit12)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis severity IAGP XCO:0000195 D RGD:2317591|PMID:19675581 20100423 RGD Compared to DA/ZtmKini 2317596 DA.PVG.1AV1-(D4Rat103-D4Mit12)/Kini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: induced IAGP XCO:0000451 D RGD:7240516|PMID:22761571 20140429 RGD as compared to control strain PVG.1AV1/Kini; neurovirulent Herpes simplex type 1 virus (HSV-1 strain I-2762) 2317598 DA.PVG.1AV1-(D4Rat231-D4Mit12)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195 D RGD:2317591|PMID:19675581 20100423 RGD 2317599 DA.PVG.1AV1-(D4Got211-D4Mit12)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis severity IAGP XCO:0000195 D RGD:2317591|PMID:19675581 20100423 RGD compared to DA/ZtmKini 2317599 DA.PVG.1AV1-(D4Got211-D4Mit12)/Kini strain DOID:9003870 Herpes Simplex Encephalitis MODEL: induced IAGP XCO:0000451 D RGD:7240516|PMID:22761571 20140429 RGD as compared to control strain PVG.1AV1/Kini; neurovirulent Herpes simplex type 1 virus (HSV-1 strain I-2762) 2317750 Glom26 Glomerulus QTL 26 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317750 Glom26 Glomerulus QTL 26 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317752 Glom23 Glomerulus QTL 23 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317752 Glom23 Glomerulus QTL 23 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317753 Glom24 Glomerulus QTL 24 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317753 Glom24 Glomerulus QTL 24 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317754 Glom25 Glomerulus QTL 25 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317754 Glom25 Glomerulus QTL 25 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317755 Glom22 Glomerulus QTL 22 qtl DOID:10952 nephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317755 Glom22 Glomerulus QTL 22 qtl DOID:2921 glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20100421 RGD 2317791 DA.PVG.1AV1-(D4Got60-D4Kini1)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis severity IAGP XCO:0000195 D RGD:2317591|PMID:19675581 20100423 RGD Compared to DA/ZtmKini 2317812 AT.ANT-(D1Uia12-D1Rat288)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317812 AT.ANT-(D1Uia12-D1Rat288)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317813 AT.ANT-(D1Rat234-D1Rat47)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317813 AT.ANT-(D1Rat234-D1Rat47)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317814 AT.ANT-(D1Rat273-D1Rat158)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317814 AT.ANT-(D1Rat273-D1Rat158)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317815 AT.ANT-(D1Rat35-D1Rat47)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317815 AT.ANT-(D1Rat35-D1Rat47)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317816 AT.ANT-(D1Rat234-D1Rat158)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317816 AT.ANT-(D1Rat234-D1Rat158)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317817 AT.ANT-(D1Rat183-D1Rat288)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317817 AT.ANT-(D1Rat183-D1Rat288)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317818 AT.ANT-(D1Rat273-D1Rat288)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317818 AT.ANT-(D1Rat273-D1Rat288)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317819 AT.ANT-(D1Rat35-D1Rat288)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317819 AT.ANT-(D1Rat35-D1Rat288)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317820 AT.ANT-(D1Rat158-D1Rat288)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317820 AT.ANT-(D1Rat158-D1Rat288)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317822 AT.ANT-(D1Rat35-D1Rat38)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317822 AT.ANT-(D1Rat35-D1Rat38)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317825 AT.ANT-(D1Rat234-D1Rat35)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317825 AT.ANT-(D1Rat234-D1Rat35)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317827 AT.ANT-(D1Rat234-D1Rat38)/Rar strain DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317827 AT.ANT-(D1Rat234-D1Rat38)/Rar strain DOID:9004866 Ataxia MODEL: induced IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317833 Alcrsp19 Alcohol response QTL 19 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317833 Alcrsp19 Alcohol response QTL 19 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317840 Alcrsp20 Alcohol response QTL 20 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317840 Alcrsp20 Alcohol response QTL 20 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317848 Alcrsp21 Alcohol response QTL 21 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317848 Alcrsp21 Alcohol response QTL 21 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317851 Alcrsp22 Alcohol response QTL 22 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317851 Alcrsp22 Alcohol response QTL 22 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317879 Alcrsp27 Alcohol response QTL 27 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317879 Alcrsp27 Alcohol response QTL 27 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317880 Alcrsp25 Alcohol response QTL 25 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317880 Alcrsp25 Alcohol response QTL 25 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317882 Alcrsp24 Alcohol response QTL 24 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317882 Alcrsp24 Alcohol response QTL 24 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317883 Alcrsp26 Alcohol response QTL 26 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317883 Alcrsp26 Alcohol response QTL 26 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317885 Alcrsp28 Alcohol response QTL 28 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317885 Alcrsp28 Alcohol response QTL 28 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317886 Alcrsp23 Alcohol response QTL 23 qtl DOID:251 alcohol-induced mental disorder IAGP D RGD:2317807|PMID:19500156 20100429 RGD 2317886 Alcrsp23 Alcohol response QTL 23 qtl DOID:9004866 Ataxia IAGP D RGD:2317807|PMID:19500156 20100429 RGD alcohol 2317891 SHR-Chr 6MWF/Rkb strain DOID:10763 hypertension IAGP D RGD:2317887|PMID:20388842 20100429 RGD compared to MWF/FubRkb 2317891 SHR-Chr 6MWF/Rkb strain DOID:9001614 Chronic Tubulointerstitial Nephropathy IAGP D RGD:2317887|PMID:20388842 20200203 RGD compared to SHR/FubRkb, MWF/FubRkb 2318 Cd9 CD9 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2318 Cd9 CD9 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732702 D RGD:2326207|PMID:14534881 20100629 RGD 2318 Cd9 CD9 molecule gene DOID:1380 endometrial cancer ISO RGD:732702 D RGD:2326208|PMID:11505398 20100629 RGD 2318 Cd9 CD9 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:732702 D RGD:2289405|PMID:12079303 20100629 RGD protein:decreased expression, altered localization:ovary 2318 Cd9 CD9 molecule gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732702 D RGD:2326197|PMID:17406028 20100629 RGD DNA, mRNA:deletion, point mutation, decreased expression:prostate gland 2318 Cd9 CD9 molecule gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732702 D RGD:2289390|PMID:17393117 20100629 RGD protein:decreased expression:urinary bladder 2318 Cd9 CD9 molecule gene DOID:2893 cervix carcinoma disease_progression ISO RGD:732702 D RGD:2326206|PMID:14695144 20100629 RGD 2318 Cd9 CD9 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:732702 D RGD:5490168|PMID:19635508 20200527 RGD mRNA, protein:increased expression:lung (human) 2318 Cd9 CD9 molecule gene DOID:3068 glioblastoma ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26573230 2318 Cd9 CD9 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:732702 D RGD:2326200|PMID:16132579 20100629 RGD 2318 Cd9 CD9 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 2318 Cd9 CD9 molecule gene DOID:5082 liver cirrhosis ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 2318 Cd9 CD9 molecule gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 2318 Cd9 CD9 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2318 Cd9 CD9 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 2318 Cd9 CD9 molecule gene DOID:9007456 Female Infertility ISO RGD:732703 D RGD:734730|PMID:10634790 19990101 RGD 2318 Cd9 CD9 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732702 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2318 Cd9 CD9 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 2318 Cd9 CD9 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:732702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:0050778 Meckel syndrome ISO RGD:2293907 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2293907 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:0080942 anauxetic dysplasia ISO RGD:2293907 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2293907 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:630 genetic disease ISO RGD:2293907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2293907 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:9562 primary ciliary dyskinesia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2318060 Cimip2b ciliary microtubule inner protein 2B gene DOID:9870 galactosemia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 2318067 Pigy phosphatidylinositol glycan anchor biosynthesis, class Y gene DOID:630 genetic disease ISO RGD:1605909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318067 Pigy phosphatidylinositol glycan anchor biosynthesis, class Y gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1605909 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 2318067 Pigy phosphatidylinositol glycan anchor biosynthesis, class Y gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:1605909 D RGD:7240710 20190315 OMIM 2318067 Pigy phosphatidylinositol glycan anchor biosynthesis, class Y gene DOID:9001811 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 2318067 Pigy phosphatidylinositol glycan anchor biosynthesis, class Y gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1605909 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 2318093 Haus5 HAUS augmin-like complex, subunit 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 2318093 Haus5 HAUS augmin-like complex, subunit 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1317198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2318093 Haus5 HAUS augmin-like complex, subunit 5 gene DOID:543 dystonia ISO RGD:1317198 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 2318093 Haus5 HAUS augmin-like complex, subunit 5 gene DOID:630 genetic disease ISO RGD:1317198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318102 Silc1 sciatic injury induced lincRNA upregulator of SOX11 gene DOID:0060573 von Willebrand's disease 1 ISO RGD:2303661 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 1 PMID:25741868|PMID:34355501 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605664 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605664 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:0111621 Temtamy syndrome ISO RGD:1605664 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:630 genetic disease ISO RGD:1605664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318111 Fam90a1 family with sequence similarity 90, member A1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605664 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2318117 Tmem240 transmembrane protein 240 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318117 Tmem240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:7240710 20141210 OMIM 2318117 Tmem240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:11160961|PMID:25070513|PMID:25741868|PMID:28492532|PMID:30522958|PMID:33851480 2318117 Tmem240 transmembrane protein 240 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 2318117 Tmem240 transmembrane protein 240 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603247 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2318117 Tmem240 transmembrane protein 240 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603247 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2318117 Tmem240 transmembrane protein 240 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603247 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2318117 Tmem240 transmembrane protein 240 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318117 Tmem240 transmembrane protein 240 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318117 Tmem240 transmembrane protein 240 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318117 Tmem240 transmembrane protein 240 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603247 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2318117 Tmem240 transmembrane protein 240 gene DOID:630 genetic disease ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30522958 2318117 Tmem240 transmembrane protein 240 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25070513|PMID:25741868|PMID:28492532 2318117 Tmem240 transmembrane protein 240 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603247 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2318117 Tmem240 transmembrane protein 240 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:1314368 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314368 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:630 genetic disease ISO RGD:1314368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:8501 fundus dystrophy ISO RGD:1314368 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314368 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:7240710 20160928 OMIM 2318130 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to PMID:18358451|PMID:18923002|PMID:19250854|PMID:19279319|PMID:19449032|PMID:24033266|PMID:25326637|PMID:25741868 2318138 Anos1 anosmin 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 2318138 Anos1 anosmin 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:8504298 2318138 Anos1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:7240710 20180822 OMIM 2318138 Anos1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia PMID:11044805|PMID:11297579|PMID:12050219|PMID:12727945|PMID:15001591|PMID:1518845|PMID:15605412|PMID:1594017|PMID:16199547|PMID:1639422|PMID:16882753|PMID:17054399|PMID:17576681|PMID:18259106|PMID:1904396|PMID:21681106|PMID:22035731|PMID:23100014|PMID:23410897|PMID:23533228|PMID:23643382|PMID:23721716|PMID:23849776|PMID:24031091|PMID:25064402|PMID:25077900|PMID:25339597|PMID:25636053|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26708526|PMID:26862482|PMID:27657687|PMID:28122887|PMID:28295047|PMID:28492532|PMID:28566479|PMID:28708303|PMID:28915117|PMID:30098700|PMID:31200363|PMID:31602316|PMID:32870266|PMID:8504298|PMID:9536098|PMID:9589672|PMID:9713559 2318138 Anos1 anosmin 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1350490 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:11044805|PMID:15001591|PMID:25077900|PMID:25741868 2318138 Anos1 anosmin 1 gene DOID:12849 autistic disorder ISO RGD:1350490 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2318138 Anos1 anosmin 1 gene DOID:13938 amenorrhea ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:27657687|PMID:28492532|PMID:32870266 2318138 Anos1 anosmin 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 2318138 Anos1 anosmin 1 gene DOID:3614 Kallmann syndrome ISO RGD:1350490 D RGD:11554173 20180821 CTD CTD Direct Evidence: marker/mechanism 2318138 Anos1 anosmin 1 gene DOID:630 genetic disease ISO RGD:1350490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2318138 Anos1 anosmin 1 gene DOID:9001239 Delayed Puberty ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:8504298 2318138 Anos1 anosmin 1 gene DOID:9003503 Penis Agenesis ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micropenis PMID:11297579|PMID:25741868 2318138 Anos1 anosmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350490 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354119 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1354119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1354119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:10283 prostate cancer ISO RGD:1354119 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:12849 autistic disorder ISO RGD:1354119 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:630 genetic disease ISO RGD:1354119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318147 Gpr82 G protein-coupled receptor 82 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354119 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318166 Efcab13 EF-hand calcium binding domain 13 gene DOID:630 genetic disease ISO RGD:1606737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318321 Tmem210 transmembrane protein 210 gene DOID:0050777 Joubert syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2318321 Tmem210 transmembrane protein 210 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 2318321 Tmem210 transmembrane protein 210 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2292188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 2318321 Tmem210 transmembrane protein 210 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2318321 Tmem210 transmembrane protein 210 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2292188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 2318321 Tmem210 transmembrane protein 210 gene DOID:0081097 Rafiq syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 2318321 Tmem210 transmembrane protein 210 gene DOID:1826 epilepsy ISO RGD:2292188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2318321 Tmem210 transmembrane protein 210 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2318339 Fnip1 folliculin interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2318339 Fnip1 folliculin interacting protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 2318339 Fnip1 folliculin interacting protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1606476 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 2318339 Fnip1 folliculin interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1606476 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2318339 Fnip1 folliculin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2318339 Fnip1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:7240710 20220202 OMIM 2318339 Fnip1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy PMID:32181500|PMID:32905580 2318339 Fnip1 folliculin interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606476 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318339 Fnip1 folliculin interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2318361 Dhx29 DExH-box helicase 29 gene DOID:10283 prostate cancer ISO RGD:1318664 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2318361 Dhx29 DExH-box helicase 29 gene DOID:630 genetic disease ISO RGD:1318664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318361 Dhx29 DExH-box helicase 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318664 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318364 Smim19 small integral membrane protein 19 gene DOID:0090039 torsion dystonia 6 ISO RGD:1602660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 2318364 Smim19 small integral membrane protein 19 gene DOID:0111959 immunodeficiency 15B ISO RGD:1602660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 2318364 Smim19 small integral membrane protein 19 gene DOID:630 genetic disease ISO RGD:1602660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318364 Smim19 small integral membrane protein 19 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1602660 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 2318364 Smim19 small integral membrane protein 19 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602660 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 2318374 Arhgap33 Rho GTPase activating protein 33 gene DOID:0060041 autism spectrum disorder ISO RGD:1318752 D RGD:126848764|PMID:25869807 20210429 RGD 2318374 Arhgap33 Rho GTPase activating protein 33 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 2318374 Arhgap33 Rho GTPase activating protein 33 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2318374 Arhgap33 Rho GTPase activating protein 33 gene DOID:150 disease of mental health ISO RGD:1318752 D RGD:11343316|PMID:26839058 20210429 RGD 2318374 Arhgap33 Rho GTPase activating protein 33 gene DOID:3328 temporal lobe epilepsy ISO RGD:1318752 D RGD:126848765|PMID:30996354 20210429 RGD protein:increased phosphorylation:hippocampus 2318374 Arhgap33 Rho GTPase activating protein 33 gene DOID:630 genetic disease ISO RGD:1318751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318406 Zfp605 zinc finger protein 605 gene DOID:630 genetic disease ISO RGD:1353121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318406 Zfp605 zinc finger protein 605 gene DOID:9256 colorectal cancer ISO RGD:1353121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0050632 oculocutaneous albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28224992|PMID:28492532|PMID:28667292|PMID:29345414 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0050632 oculocutaneous albinism ISS RGD:11027 D RGD:13592920 20180518 MouseDO OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0060041 autism spectrum disorder ISO RGD:1352949 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:7240710 20130731 OMIM 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11179026|PMID:11464238|PMID:12163334|PMID:12469324|PMID:12687678|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:15889046|PMID:15942220|PMID:16199547|PMID:17160937|PMID:17236130|PMID:17385796|PMID:17568986|PMID:17576681|PMID:1773534|PMID:17767372|PMID:17960121|PMID:18252222|PMID:18326704|PMID:18463683|PMID:18683130|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20806075|PMID:20861488|PMID:21085994|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23103111|PMID:23504663|PMID:23744323|PMID:23824587|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25060099|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25809079|PMID:25919014|PMID:26165494|PMID:26474496|PMID:26818737|PMID:27231233|PMID:27468418|PMID:27734839|PMID:27887888|PMID:28041643|PMID:28224992|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28726809|PMID:28976636|PMID:29036293|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30414346|PMID:30835348|PMID:31077556|PMID:31141302|PMID:31196117|PMID:31229681|PMID:31719542|PMID:31813138|PMID:32741191|PMID:32783370|PMID:32830442|PMID:33124154|PMID:33974259|PMID:34707637|PMID:35393538|PMID:7762554|PMID:7874125|PMID:7920637|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9536098 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:9491820|PMID:7920637 20140912 RGD DNA:deletion:exon:699-?-859+?del (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:9491821|PMID:20019752 20140912 RGD DNA:missense mutation:cds:p.G775D (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:9491830|PMID:22734612 20140915 RGD DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:9491836|PMID:12469324 20140916 RGD DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:11983 Prader-Willi syndrome ISO RGD:1352949 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:12849 autistic disorder ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:13250 diarrhea ISO RGD:1352949 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1352949 D RGD:9491831|PMID:24617981 20140915 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:1932 Angelman syndrome ISO RGD:1352949 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9491840|PMID:21270109 20140916 RGD DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9491841|PMID:19384953 20140916 RGD DNA:missense mutation:cds:p.R419Q (rs1800407) (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1352949 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:630 genetic disease ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17385796|PMID:1773534|PMID:17960121|PMID:18326704|PMID:18463683|PMID:18683130|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20861488|PMID:21541274|PMID:23010199|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24518832|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:27734839|PMID:28041643|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29437493|PMID:31077556|PMID:31196117|PMID:32741191|PMID:32830442|PMID:8302318|PMID:8980282 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8866 actinic keratosis susceptibility ISO RGD:1352949 D RGD:9491831|PMID:24617981 20140915 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9491818|PMID:19710684 20140912 RGD DNA:snp:cds:p.R419Q (rs1800407) (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9491829|PMID:15889046 20140915 RGD DNA:snps:exon, intron:multiple (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9491831|PMID:24617981 20140915 RGD DNA:missense mutation:cds:p.H615R (rs1800414) (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:7240710 20150722 OMIM 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 PMID:10987646|PMID:12163334|PMID:12876664|PMID:15889046|PMID:18252222|PMID:23504663|PMID:25741868|PMID:28492532|PMID:30414346|PMID:7874125 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9001386 Albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:32741191 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10649493|PMID:12876664|PMID:18463683|PMID:20426782|PMID:20861488|PMID:22734612|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25741868|PMID:26165494|PMID:27734839|PMID:28266639|PMID:28492532|PMID:31077556|PMID:31229681|PMID:7874125|PMID:8302318 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352949 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9004823 Brown Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Brown oculocutaneous albinism PMID:11179026|PMID:17767372|PMID:7920637 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9004823 Brown Oculocutaneous Albinism ISO RGD:1352949 D RGD:9491819|PMID:11179026 20140912 RGD DNA:deletion:exon:699_859del (human) 2318412 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1352949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 2318441 Lrrc75b leucine rich repeat containing 75B gene DOID:1826 epilepsy ISO RGD:1606646 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2318441 Lrrc75b leucine rich repeat containing 75B gene DOID:5419 schizophrenia ISO RGD:1606646 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2318441 Lrrc75b leucine rich repeat containing 75B gene DOID:630 genetic disease ISO RGD:1606646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318452 Tmem262 transmembrane protein 262 gene DOID:630 genetic disease ISO RGD:7409565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318502 Tmem52 transmembrane protein 52 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318502 Tmem52 transmembrane protein 52 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603246 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2318502 Tmem52 transmembrane protein 52 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603246 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2318502 Tmem52 transmembrane protein 52 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603246 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2318502 Tmem52 transmembrane protein 52 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603246 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2318502 Tmem52 transmembrane protein 52 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318502 Tmem52 transmembrane protein 52 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318502 Tmem52 transmembrane protein 52 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318502 Tmem52 transmembrane protein 52 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603246 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2318502 Tmem52 transmembrane protein 52 gene DOID:630 genetic disease ISO RGD:1603246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318502 Tmem52 transmembrane protein 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603246 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318502 Tmem52 transmembrane protein 52 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603246 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2318502 Tmem52 transmembrane protein 52 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:0060163 body dysmorphic disorder ISO RGD:1342888 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1342888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:1059 intellectual disability ISO RGD:1342888 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:10907 microcephaly ISO RGD:1342888 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:1826 epilepsy ISO RGD:1342888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:630 genetic disease ISO RGD:1342888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318506 Trappc3l trafficking protein particle complex subunit 3L gene DOID:9000495 Tremor ISO RGD:1342888 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 2318522 LOC100362263 melanoma antigen family A, 5-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12800599 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2318522 LOC100362263 melanoma antigen family A, 5-like gene DOID:12849 autistic disorder ISO RGD:12800599 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2318544 Plekhg6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2318544 Plekhg6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:630 genetic disease ISO RGD:1605382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318544 Plekhg6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605382 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2318569 LOC100362216 hypothetical protein LOC100362216 gene DOID:0060476 Perlman syndrome ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 2318569 LOC100362216 hypothetical protein LOC100362216 gene DOID:0110991 Joubert syndrome 22 ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 2318569 LOC100362216 hypothetical protein LOC100362216 gene DOID:630 genetic disease ISO RGD:2298740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318578 Krtap16-1 keratin associated protein 16-1 gene DOID:630 genetic disease ISO RGD:1602313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318580 Fndc9 fibronectin type III domain containing 9 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 2318580 Fndc9 fibronectin type III domain containing 9 gene DOID:630 genetic disease ISO RGD:1606861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318583 Znf408 zinc finger protein 408 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1315189 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy 2318583 Znf408 zinc finger protein 408 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1315189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 2318583 Znf408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:7240710 20170405 OMIM 2318583 Znf408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 72 PMID:25741868|PMID:25882705|PMID:28492532 2318583 Znf408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:7240710 20170329 OMIM 2318583 Znf408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:23716654|PMID:25741868|PMID:25882705|PMID:28492532|PMID:29982478|PMID:6897033 2318583 Znf408 zinc finger protein 408 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:23716654|PMID:27316669|PMID:28492532 2318583 Znf408 zinc finger protein 408 gene DOID:10584 retinitis pigmentosa ISO RGD:1315189 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:28095122 2318583 Znf408 zinc finger protein 408 gene DOID:1059 intellectual disability ISO RGD:1315189 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2318583 Znf408 zinc finger protein 408 gene DOID:630 genetic disease ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2318583 Znf408 zinc finger protein 408 gene DOID:8501 fundus dystrophy ISO RGD:1315189 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:25882705|PMID:28492532 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:0050633 ocular albinism ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:7240710 20140723 OMIM 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome | ClinVar Annotator: match by term: Goldmann-Favre syndrome | ClinVar Annotator: match by term: NR2E3-Related Disorders PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17601449|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23604511|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:29785639|PMID:30054919|PMID:30285900|PMID:30324420|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31370859|PMID:32037395|PMID:32679203|PMID:33781268|PMID:9536098 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:7240710 20140723 OMIM 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17601449|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32679203|PMID:33781268 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15453866|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:31054281 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:32037395|PMID:32679203|PMID:32901917|PMID:9536098 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10655056|PMID:19898638|PMID:24069298|PMID:24891813|PMID:25703721|PMID:28300834|PMID:28492532 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:2717 Bloom syndrome ISO RGD:1351565 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:3320 Tay-Sachs disease ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:630 genetic disease ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:8501 fundus dystrophy ISO RGD:1351565 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32037395|PMID:32581362|PMID:32679203|PMID:32901917 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:9000343 Vision Disorders ISO RGD:1351565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1351565 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25079116|PMID:26894784|PMID:28041643|PMID:28492532|PMID:28559085|PMID:32581362|PMID:32679203 2318602 Nr2e3 nuclear receptor subfamily 2, group E, member 3 gene DOID:9256 colorectal cancer ISO RGD:1351565 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2318606 Dennd5b DENN domain containing 5B gene DOID:630 genetic disease ISO RGD:1605273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318708 LOC100362176 hypothetical protein LOC100362176 gene DOID:630 genetic disease ISO RGD:5486719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318711 Cldn34b4 claudin 34B4 gene DOID:12849 autistic disorder ISO RGD:9837188 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2318711 Cldn34b4 claudin 34B4 gene DOID:630 genetic disease ISO RGD:9837188 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318714 Fam170b family with sequence similarity 170, member B gene DOID:11372 megacolon ISO RGD:1346857 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2318714 Fam170b family with sequence similarity 170, member B gene DOID:5419 schizophrenia ISO RGD:1346857 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2318714 Fam170b family with sequence similarity 170, member B gene DOID:630 genetic disease ISO RGD:1346857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318759 Ift140 intraflagellar transport 140 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605413 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2318759 Ift140 intraflagellar transport 140 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:34429528|PMID:34890546|PMID:9536098 2318759 Ift140 intraflagellar transport 140 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 2318759 Ift140 intraflagellar transport 140 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISS RGD:1553664 D RGD:13592920 20180518 MouseDO OMIM:208500 2318759 Ift140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:7240710 20141015 OMIM 2318759 Ift140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly PMID:16199547|PMID:17576681|PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24183451|PMID:24698627|PMID:25640679|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:27058611|PMID:27874174|PMID:28041643|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:28844315|PMID:28991257|PMID:29068549|PMID:29111861|PMID:29688594|PMID:29706353|PMID:29758562|PMID:30479745|PMID:30773290|PMID:30902645|PMID:31047384|PMID:31054281|PMID:31130284|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32860008|PMID:33452237|PMID:33532864|PMID:33576794|PMID:33946315|PMID:34429528|PMID:34890546|PMID:9536098 2318759 Ift140 intraflagellar transport 140 gene DOID:10584 retinitis pigmentosa ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068549|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32531858|PMID:33452237|PMID:34429528|PMID:34890546 2318759 Ift140 intraflagellar transport 140 gene DOID:10907 microcephaly ISO RGD:1605413 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 2318759 Ift140 intraflagellar transport 140 gene DOID:12712 nephronophthisis ISO RGD:1605413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17576681|PMID:22503633|PMID:25741868|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:28844315|PMID:29068549|PMID:29688594|PMID:29706353|PMID:30773290|PMID:9536098 2318759 Ift140 intraflagellar transport 140 gene DOID:14791 Leber congenital amaurosis ISO RGD:1605413 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 2318759 Ift140 intraflagellar transport 140 gene DOID:1826 epilepsy ISO RGD:1605413 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 2318759 Ift140 intraflagellar transport 140 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605413 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2318759 Ift140 intraflagellar transport 140 gene DOID:2661 myoepithelioma ISO RGD:1605413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 2318759 Ift140 intraflagellar transport 140 gene DOID:630 genetic disease ISO RGD:1605413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2318759 Ift140 intraflagellar transport 140 gene DOID:8501 fundus dystrophy ISO RGD:1605413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26766544|PMID:26968735|PMID:28492532|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31736247|PMID:32037395|PMID:32531858|PMID:33452237|PMID:34890546|PMID:9536098 2318759 Ift140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:7240710 20190315 OMIM 2318759 Ift140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80 PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24698627|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29111861|PMID:29688594|PMID:30479745|PMID:30773290|PMID:31054281|PMID:31130284|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32531858|PMID:32860008|PMID:34429528|PMID:34890546|PMID:9536098 2318763 Catsperz catsper channel auxiliary subunit zeta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2302458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2318763 Catsperz catsper channel auxiliary subunit zeta gene DOID:1059 intellectual disability ISO RGD:2302458 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2318763 Catsperz catsper channel auxiliary subunit zeta gene DOID:3070 high grade glioma ISO RGD:2302458 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 2318763 Catsperz catsper channel auxiliary subunit zeta gene DOID:630 genetic disease ISO RGD:2302458 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318764 Zfp383 zinc finger protein 383 gene DOID:630 genetic disease ISO RGD:1323532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318781 Setd9-ps1 SET domain containing, pseudogene 1 gene DOID:3070 high grade glioma ISO RGD:1602299 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 2318781 Setd9-ps1 SET domain containing, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1602299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318781 Setd9-ps1 SET domain containing, pseudogene 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602299 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2318878 Sf3b6 splicing factor 3B, subunit 6 gene DOID:630 genetic disease ISO RGD:1602118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318899 Zfp866 zinc finger protein 866 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604763 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2318899 Zfp866 zinc finger protein 866 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604763 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2318899 Zfp866 zinc finger protein 866 gene DOID:0111254 glutaric acidemia I ISO RGD:1604763 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2318899 Zfp866 zinc finger protein 866 gene DOID:3413 alpha-mannosidosis ISO RGD:1604763 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2318899 Zfp866 zinc finger protein 866 gene DOID:630 genetic disease ISO RGD:1604763 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1321657 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:5426 primary ovarian insufficiency ISO RGD:1321657 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 2318922 Ttc16 tetratricopeptide repeat domain 16 gene DOID:630 genetic disease ISO RGD:1321657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:155925340 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156019901 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156054655 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156114546 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156124445 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156148187 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156291388 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156360158 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:156382008 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:329354310 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318949 KRTAP4-6 keratin associated protein 4-6 gene DOID:630 genetic disease ISO RGD:329378170 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318958 Zfp27 zinc finger protein 27 gene DOID:630 genetic disease ISO RGD:1604726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606749 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606749 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606749 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:7240710 20141015 OMIM 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:16199547|PMID:17576681|PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29269699|PMID:29383837|PMID:9536098 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:1059 intellectual disability ISO RGD:1606749 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:1059 intellectual disability ISO RGD:1606749 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:630 genetic disease ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:9002947 Aicardi-Goutieres Syndrome 9 ISO RGD:1606749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 PMID:16547514|PMID:25741868|PMID:33230297|PMID:7667090 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606749 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2318975 Grcc10 gene rich cluster, C10 gene gene DOID:9008086 Developmental Disabilities ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29383837 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731889 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731889 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731889 D RGD:2715645|PMID:17145867 20100702 RGD 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:731889 D RGD:2708463|PMID:17956886 20100702 RGD 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:731889 D RGD:2683526|PMID:19377877 20100702 RGD DNA:SNP:intron:rs16941635 (human) 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:731889 D RGD:2701900|PMID:18245534 20100702 RGD 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:3500 gallbladder adenocarcinoma ISO RGD:731889 D RGD:2722465|PMID:15017593 20100702 RGD protein:increased expression:gallbladder 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:4362 cervical cancer ISO RGD:731889 D RGD:2296067|PMID:18299147 20100702 RGD 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:630 genetic disease ISO RGD:731889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:2316317|PMID:19136513 20100212 RGD protein:increased expression:liver (human) 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316488|PMID:19672039 20100212 RGD protein:increased expression:spinal cord dura mater (rat) 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731889 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731889 D RGD:2756028|PMID:17460776 20100702 RGD 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731890 D RGD:2711357|PMID:17575168 20100702 RGD 2319 Cdk1 cyclin-dependent kinase 1 gene DOID:9004547 Thyroid Neoplasms IEP D RGD:2314685|PMID:19298605 20100212 RGD mRNA, protein:increased expression:thyroid gland (rat) 2319120 Cox7b2 cytochrome c oxidase subunit 7B2 gene DOID:630 genetic disease ISO RGD:1353874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319120 Cox7b2 cytochrome c oxidase subunit 7B2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353874 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2319129 Lce3e late cornified envelope 3E gene DOID:0111940 immunodeficiency 42 ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2319129 Lce3e late cornified envelope 3E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2319129 Lce3e late cornified envelope 3E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2319129 Lce3e late cornified envelope 3E gene DOID:1540 parathyroid carcinoma ISO RGD:1346486 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2319129 Lce3e late cornified envelope 3E gene DOID:5812 MHC class II deficiency ISO RGD:1346486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2319129 Lce3e late cornified envelope 3E gene DOID:630 genetic disease ISO RGD:1346486 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319129 Lce3e late cornified envelope 3E gene DOID:8893 psoriasis ISO RGD:1346486 D RGD:11554173 20180801 CTD CTD Direct Evidence: marker/mechanism PMID:19169253 2319129 Lce3e late cornified envelope 3E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346486 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2319133 Zfp42 zinc finger protein 42 gene DOID:12849 autistic disorder ISO RGD:1606971 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2319133 Zfp42 zinc finger protein 42 gene DOID:2229 factor XI deficiency ISO RGD:1606971 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 2319133 Zfp42 zinc finger protein 42 gene DOID:630 genetic disease ISO RGD:1606971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319133 Zfp42 zinc finger protein 42 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606971 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:11198 DiGeorge syndrome ISO RGD:1602795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:12583 velocardiofacial syndrome ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:12849 autistic disorder ISO RGD:1602795 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:5419 schizophrenia ISO RGD:1602795 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2319134 Lrrc74b leucine rich repeat containing 74B gene DOID:9007661 Dwarfism ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356|PMID:9536098 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:1059 intellectual disability ISO RGD:1604574 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:2746 glycogen storage disease V ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:630 genetic disease ISO RGD:1604574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604574 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:9006534 Nervous System Malformations ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:7240710 20130425 OMIM 2319141 Rnaseh2c ribonuclease H2, subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600438|PMID:29150899|PMID:29239743|PMID:29389947|PMID:30315573|PMID:31130681|PMID:31529068|PMID:32404165|PMID:34008892|PMID:34055681|PMID:34302356|PMID:9536098 2319149 Tmem221 transmembrane protein 221 gene DOID:630 genetic disease ISO RGD:2307389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319152 Tmem198 transmembrane protein 198 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2319152 Tmem198 transmembrane protein 198 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2319152 Tmem198 transmembrane protein 198 gene DOID:1148 polydactyly ISO RGD:1605296 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 2319152 Tmem198 transmembrane protein 198 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2319152 Tmem198 transmembrane protein 198 gene DOID:630 genetic disease ISO RGD:1605296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319152 Tmem198 transmembrane protein 198 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605296 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319157 Ikzf4 IKAROS family zinc finger 4 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1312328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:23812780|PMID:28492532 2319157 Ikzf4 IKAROS family zinc finger 4 gene DOID:12306 vitiligo ISO RGD:1312328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 2319157 Ikzf4 IKAROS family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1312328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319157 Ikzf4 IKAROS family zinc finger 4 gene DOID:640 encephalomyelitis ISS RGD:1312329 D RGD:13592920 20201029 MouseDO 2319157 Ikzf4 IKAROS family zinc finger 4 gene DOID:986 alopecia areata ISO RGD:1312328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:7240710 20191030 OMIM 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 PMID:25741868|PMID:30624672|PMID:31207318 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:1059 intellectual disability ISO RGD:1351540 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:2746 glycogen storage disease V ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:3070 high grade glioma ISO RGD:1351540 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 2319165 Vps51 VPS51 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1351540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319167 LOC100361913 rCG54286-like gene DOID:4905 pancreatic carcinoma ISO RGD:1354281 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 2319167 LOC100361913 rCG54286-like gene DOID:630 genetic disease ISO RGD:1354281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319167 LOC100361913 rCG54286-like gene DOID:9000918 Disease Progression ISO RGD:1354281 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 2319215 Zfp160 zinc finger protein 160 gene DOID:630 genetic disease ISO RGD:1605935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319288 Ube2h ubiquitin-conjugating enzyme E2H gene DOID:11612 polycystic ovary syndrome ISO RGD:1320678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2319288 Ube2h ubiquitin-conjugating enzyme E2H gene DOID:12849 autistic disorder ISO RGD:1320678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14639049 2319288 Ube2h ubiquitin-conjugating enzyme E2H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320678 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2319288 Ube2h ubiquitin-conjugating enzyme E2H gene DOID:630 genetic disease ISO RGD:1320678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319289 Spint4 serine peptidase inhibitor, Kunitz type 4 gene DOID:2234 focal epilepsy ISO RGD:1603467 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2319289 Spint4 serine peptidase inhibitor, Kunitz type 4 gene DOID:630 genetic disease ISO RGD:1603467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319289 Spint4 serine peptidase inhibitor, Kunitz type 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1603467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346235 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1346235 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:1059 intellectual disability ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:243065234|PMID:23286482 20230413 RGD DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human) 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:268530901|PMID:21499900 20230418 RGD DNA:repeats: : 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:1682 congenital heart disease ISO RGD:1346235 D RGD:266231212|PMID:28829497 20230418 RGD DNA:polymorphism: : 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:1712 aortic valve stenosis severity ISO RGD:1346235 D RGD:267010069|PMID:23578508 20230418 RGD 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:557 kidney disease treatment IEP D RGD:7247439|PMID:23535151 20230425 RGD associated with Postoperative Complications 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:630 genetic disease ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346235 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:8398 osteoarthritis treatment IEP D RGD:329328930|PMID:34738623 20230425 RGD 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:8445 intestinal volvulus ISO RGD:1346235 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1346235 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1557692 D RGD:268357360|PMID:36092961 20230418 RGD mRNA,protein:increased expression:liver: 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:329337345|PMID:26481166 20230427 RGD protein:increased expression:nucleus 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346235 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment IEP D RGD:329328926|PMID:31399090 20230425 RGD 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9005968 Neuralgia IEP D RGD:329337338|PMID:23386250 20230427 RGD 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346235 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 2319357 Nfatc1 nuclear factor of activated T-cells 1 gene DOID:9650 pathologic nystagmus ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 2319415 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 2319415 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603901 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 2319415 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603901 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2319415 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:630 genetic disease ISO RGD:1603901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343627 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343627 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:12849 autistic disorder ISO RGD:1343627 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:630 genetic disease ISO RGD:1343627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343627 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343627 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:9263 homocystinuria ISO RGD:1343627 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 2319481 Krtap12-1 keratin associated protein 12-1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2319500 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 2319500 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1344179 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 2319500 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 2319500 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 2319500 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:630 genetic disease ISO RGD:1344179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319509 Hoxb2 homeobox B2 gene DOID:630 genetic disease ISO RGD:1320419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319541 Ociad2 OCIA domain containing 2 gene DOID:630 genetic disease ISO RGD:1349620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319564 Setdb2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321179 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 2319564 Setdb2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1321179 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 2319564 Setdb2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319568 Iglc1 immunoglobulin lambda constant 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1349723 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 2319568 Iglc1 immunoglobulin lambda constant 1 gene DOID:5419 schizophrenia ISO RGD:1349723 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2319568 Iglc1 immunoglobulin lambda constant 1 gene DOID:630 genetic disease ISO RGD:1349723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319575 Wfdc13 WAP four-disulfide core domain 13 gene DOID:2234 focal epilepsy ISO RGD:1352525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2319575 Wfdc13 WAP four-disulfide core domain 13 gene DOID:630 genetic disease ISO RGD:1352525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319575 Wfdc13 WAP four-disulfide core domain 13 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1352525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 2319590 Prdm14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316344 D RGD:152998954|PMID:27777637 20220708 RGD DNA:hypermethylation 2319590 Prdm14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316344 D RGD:150530468|PMID:23690269 20211209 RGD 2319590 Prdm14 PR/SET domain 14 gene DOID:630 genetic disease ISO RGD:1316344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319590 Prdm14 PR/SET domain 14 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1316344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 2319590 Prdm14 PR/SET domain 14 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316344 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19043588 2319680 LOC100361693 zinc finger protein 53-like gene DOID:630 genetic disease ISO RGD:1343773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319689 Simc1 SUMO-interacting motifs containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2319689 Simc1 SUMO-interacting motifs containing 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1604161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2319689 Simc1 SUMO-interacting motifs containing 1 gene DOID:630 genetic disease ISO RGD:1604161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319701 Zc2hc1b zinc finger, C2HC-type containing 1B gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1349089 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 2319701 Zc2hc1b zinc finger, C2HC-type containing 1B gene DOID:630 genetic disease ISO RGD:1349089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1347376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1347376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1347376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:12849 autistic disorder ISO RGD:1347376 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:630 genetic disease ISO RGD:1347376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1347376 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347376 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:9263 homocystinuria ISO RGD:1347376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 2319709 Krtap12-4 keratin associated protein 12-4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2319715 Usp37 ubiquitin specific peptidase 37 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315889 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 2319715 Usp37 ubiquitin specific peptidase 37 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2319715 Usp37 ubiquitin specific peptidase 37 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2319715 Usp37 ubiquitin specific peptidase 37 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2319715 Usp37 ubiquitin specific peptidase 37 gene DOID:630 genetic disease ISO RGD:1315889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319715 Usp37 ubiquitin specific peptidase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315889 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319716 Pate1 prostate and testis expressed 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 2319716 Pate1 prostate and testis expressed 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606693 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 2319716 Pate1 prostate and testis expressed 1 gene DOID:5419 schizophrenia ISO RGD:1606693 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2319716 Pate1 prostate and testis expressed 1 gene DOID:630 genetic disease ISO RGD:1606693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319716 Pate1 prostate and testis expressed 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606693 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2319716 Pate1 prostate and testis expressed 1 gene DOID:9007661 Dwarfism ISO RGD:1606693 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2319721 Lce6a late cornified envelope 6A gene DOID:0111940 immunodeficiency 42 ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2319721 Lce6a late cornified envelope 6A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2319721 Lce6a late cornified envelope 6A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2319721 Lce6a late cornified envelope 6A gene DOID:1540 parathyroid carcinoma ISO RGD:1343793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2319721 Lce6a late cornified envelope 6A gene DOID:5812 MHC class II deficiency ISO RGD:1343793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2319721 Lce6a late cornified envelope 6A gene DOID:630 genetic disease ISO RGD:1343793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319721 Lce6a late cornified envelope 6A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343793 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2319726 Galnt6 polypeptide N-acetylgalactosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1321517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319739 Cd300ld Cd300 molecule-like family member D gene DOID:630 genetic disease ISO RGD:2290269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319741 Tmem35b transmembrane protein 35B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:5132761 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2319741 Tmem35b transmembrane protein 35B gene DOID:630 genetic disease ISO RGD:5132761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319745 Cep85l centrosomal protein 85-like gene DOID:0050453 lissencephaly ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive | ClinVar Annotator: match by term: Posterior Predominant Lissencephaly PMID:12910438|PMID:25741868|PMID:29706646|PMID:32097629|PMID:32097630 2319745 Cep85l centrosomal protein 85-like gene DOID:0050700 cardiomyopathy ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 2319745 Cep85l centrosomal protein 85-like gene DOID:0060319 cardiac arrest ISO RGD:1346539 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 2319745 Cep85l centrosomal protein 85-like gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1346539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 2319745 Cep85l centrosomal protein 85-like gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1346539 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:21735565|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 2319745 Cep85l centrosomal protein 85-like gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1346539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:21735565|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 2319745 Cep85l centrosomal protein 85-like gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1346539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION PMID:12610310|PMID:16829191|PMID:21735565|PMID:28492532 2319745 Cep85l centrosomal protein 85-like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:7240710 20200527 OMIM 2319745 Cep85l centrosomal protein 85-like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:12910438|PMID:18241046|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29706646|PMID:32097629|PMID:32097630 2319745 Cep85l centrosomal protein 85-like gene DOID:1059 intellectual disability ISO RGD:1346539 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 2319745 Cep85l centrosomal protein 85-like gene DOID:10907 microcephaly ISO RGD:1346539 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 2319745 Cep85l centrosomal protein 85-like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 2319745 Cep85l centrosomal protein 85-like gene DOID:12849 autistic disorder ISO RGD:1346539 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 2319745 Cep85l centrosomal protein 85-like gene DOID:12930 dilated cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 2319745 Cep85l centrosomal protein 85-like gene DOID:14289 Ebstein anomaly ISO RGD:1346539 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 2319745 Cep85l centrosomal protein 85-like gene DOID:1826 epilepsy ISO RGD:1346539 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2319745 Cep85l centrosomal protein 85-like gene DOID:630 genetic disease ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319745 Cep85l centrosomal protein 85-like gene DOID:9000495 Tremor ISO RGD:1346539 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 2319745 Cep85l centrosomal protein 85-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346539 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32097630 2319745 Cep85l centrosomal protein 85-like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346539 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1352453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:12849 autistic disorder ISO RGD:1352453 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:630 genetic disease ISO RGD:1352453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352453 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:9263 homocystinuria ISO RGD:1352453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 2319746 Krtap12-2 keratin associated protein 12-2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1602975 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:5812 MHC class II deficiency ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:630 genetic disease ISO RGD:1602975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319887 Ttc24 tetratricopeptide repeat domain 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602975 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2319895 Polr2k RNA polymerase II, I and III subunit K gene DOID:0050144 Kartagener syndrome ISO RGD:1352672 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112 2319895 Polr2k RNA polymerase II, I and III subunit K gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1352672 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:24055112 2319895 Polr2k RNA polymerase II, I and III subunit K gene DOID:0111590 Cohen syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 2319895 Polr2k RNA polymerase II, I and III subunit K gene DOID:630 genetic disease ISO RGD:1352672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607036 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:630 genetic disease ISO RGD:1607036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:153344574|PMID:31142329 20220829 RGD human cells in mouse model 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:153344577|PMID:30205391 20220829 RGD mRNA:increased expression:liver (human) 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:153344574|PMID:31142329 20220829 RGD mRNA, protein:increased expression:liver (human) 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:9005172 Lung Neoplasms ISO RGD:1607036 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:9009121 lung metastasis ISO RGD:1607036 D RGD:153344574|PMID:31142329 20220829 RGD human cells in mouse model 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:9256 colorectal cancer ISO RGD:1607036 D RGD:153344575|PMID:23916472 20220829 RGD human cells in mouse model 2319900 Hilpda hypoxia inducible lipid droplet-associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:1607036 D RGD:153344575|PMID:23916472 20220829 RGD mRNA:increased expression:colon (human) 2319910 H3f3a H3.3 histone A gene DOID:1540 parathyroid carcinoma ISO RGD:1317993 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2319910 H3f3a H3.3 histone A gene DOID:3068 glioblastoma ISO RGD:1317993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22286216|PMID:23817572 2319910 H3f3a H3.3 histone A gene DOID:3068 glioblastoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011|PMID:26822237 2319910 H3f3a H3.3 histone A gene DOID:3070 high grade glioma ISO RGD:1317993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22286216|PMID:23583981 2319910 H3f3a H3.3 histone A gene DOID:3070 high grade glioma ISO RGD:1317993 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:26619011 2319910 H3f3a H3.3 histone A gene DOID:3948 adrenocortical carcinoma ISO RGD:1317993 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:26619011 2319910 H3f3a H3.3 histone A gene DOID:4305 bone giant cell tumor ISO RGD:1317993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 2319910 H3f3a H3.3 histone A gene DOID:630 genetic disease ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356|PMID:34876591 2319910 H3f3a H3.3 histone A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:7240710 20220216 OMIM 2319910 H3f3a H3.3 histone A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 1 PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:28492532|PMID:33268356|PMID:34876591 2319910 H3f3a H3.3 histone A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317993 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319910 H3f3a H3.3 histone A gene DOID:9007502 Brain Neoplasms ISO RGD:1317993 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:26619011 2319910 H3f3a H3.3 histone A gene DOID:9007653 Multiple Abnormalities ISO RGD:1317993 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: H3F3A-related condition PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356 2319910 H3f3a H3.3 histone A gene DOID:9008086 Developmental Disabilities ISO RGD:1317993 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21636898|PMID:25741868|PMID:33268356|PMID:34876591 2319910 H3f3a H3.3 histone A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317993 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2319938 Rad9a RAD9 checkpoint clamp component A gene DOID:1059 intellectual disability ISO RGD:1321649 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2319938 Rad9a RAD9 checkpoint clamp component A gene DOID:630 genetic disease ISO RGD:1321649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319938 Rad9a RAD9 checkpoint clamp component A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321649 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2319938 Rad9a RAD9 checkpoint clamp component A gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1321649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21991345 2319938 Rad9a RAD9 checkpoint clamp component A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2319947 Rpl37a ribosomal protein L37A gene DOID:11612 polycystic ovary syndrome ISO RGD:1317728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2319947 Rpl37a ribosomal protein L37A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317728 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2319950 Psmg3 proteasome assembly chaperone 3 gene DOID:630 genetic disease ISO RGD:1601948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319954 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352654 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2319954 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:5062 phencyclidine abuse ISO RGD:1352654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2319954 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1352654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319954 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2319954 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:9505 cannabis abuse ISO RGD:1352654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 2319961 Armc3 armadillo repeat containing 3 gene DOID:630 genetic disease ISO RGD:1312695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2319961 Armc3 armadillo repeat containing 3 gene DOID:9008973 Familial Persistent Stuttering 4 ISO RGD:1312695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 4 2319976 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1354063 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:25741868|PMID:28492532 2319976 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:7240710 20140911 OMIM 2319976 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:17332895|PMID:22494076|PMID:25264263|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31683770|PMID:33285023|PMID:34765390 2319976 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1354063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2319976 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1354063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2319976 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:630 genetic disease ISO RGD:1354063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2319982 Rab37 RAB37, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320100 Pate2 prostate and testis expressed 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 2320100 Pate2 prostate and testis expressed 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1602157 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 2320100 Pate2 prostate and testis expressed 2 gene DOID:5419 schizophrenia ISO RGD:1602157 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2320100 Pate2 prostate and testis expressed 2 gene DOID:630 genetic disease ISO RGD:1602157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320100 Pate2 prostate and testis expressed 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602157 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2320100 Pate2 prostate and testis expressed 2 gene DOID:9007661 Dwarfism ISO RGD:1602157 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2320105 Insyn2b inhibitory synaptic factor family member 2B gene DOID:0111951 immunodeficiency 40 ISO RGD:3497372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:25741868|PMID:26083206|PMID:28492532 2320105 Insyn2b inhibitory synaptic factor family member 2B gene DOID:630 genetic disease ISO RGD:3497372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320108 LOC100361457 actin, gamma 1 propeptide-like gene DOID:9000307 Presbycusis ISO RGD:1312061 D RGD:1331525|PMID:15118671 20140211 GAD 2320121 Angptl8 angiopoietin-like 8 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2320121 Angptl8 angiopoietin-like 8 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2320121 Angptl8 angiopoietin-like 8 gene DOID:0111254 glutaric acidemia I ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2320121 Angptl8 angiopoietin-like 8 gene DOID:3413 alpha-mannosidosis ISO RGD:1607022 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2320121 Angptl8 angiopoietin-like 8 gene DOID:630 genetic disease ISO RGD:1607022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320134 Syce1l synaptonemal complex central element protein 1-like gene DOID:0070168 spermatogenic failure 3 ISO RGD:2902459 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 2320134 Syce1l synaptonemal complex central element protein 1-like gene DOID:630 genetic disease ISO RGD:2902459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320148 Tbcd tubulin folding cofactor D gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1317676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:25741868|PMID:28492532 2320148 Tbcd tubulin folding cofactor D gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 2320148 Tbcd tubulin folding cofactor D gene DOID:1059 intellectual disability ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 2320148 Tbcd tubulin folding cofactor D gene DOID:10907 microcephaly ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370|PMID:27666374 2320148 Tbcd tubulin folding cofactor D gene DOID:11162 respiratory failure ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 2320148 Tbcd tubulin folding cofactor D gene DOID:12835 quadriplegia ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 2320148 Tbcd tubulin folding cofactor D gene DOID:1289 neurodegenerative disease ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 2320148 Tbcd tubulin folding cofactor D gene DOID:5723 optic atrophy ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 2320148 Tbcd tubulin folding cofactor D gene DOID:630 genetic disease ISO RGD:1317676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33190326 2320148 Tbcd tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370|PMID:27666374 2320148 Tbcd tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:7240710 20190315 OMIM 2320148 Tbcd tubulin folding cofactor D gene DOID:9000707 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ISO RGD:1317676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:16199547|PMID:25741868|PMID:27666370|PMID:27666374|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:30426380|PMID:31019026|PMID:31240573|PMID:31395954|PMID:31569255|PMID:32705489|PMID:33190326|PMID:34120799|PMID:35586607 2320148 Tbcd tubulin folding cofactor D gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1317676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 2320148 Tbcd tubulin folding cofactor D gene DOID:9005532 Muscle Weakness ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 2320148 Tbcd tubulin folding cofactor D gene DOID:9008086 Developmental Disabilities ISO RGD:1317676 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 2320151 Pate3 prostate and testis expressed 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2302531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 2320151 Pate3 prostate and testis expressed 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2302531 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 2320151 Pate3 prostate and testis expressed 3 gene DOID:5419 schizophrenia ISO RGD:2302531 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2320151 Pate3 prostate and testis expressed 3 gene DOID:630 genetic disease ISO RGD:2302531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320151 Pate3 prostate and testis expressed 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2302531 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2320151 Pate3 prostate and testis expressed 3 gene DOID:9007661 Dwarfism ISO RGD:2302531 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2320282 Ecm2 extracellular matrix protein 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1318155 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 2320282 Ecm2 extracellular matrix protein 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 2320282 Ecm2 extracellular matrix protein 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 2320282 Ecm2 extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1318155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320282 Ecm2 extracellular matrix protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318155 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:7240710 20190315 OMIM 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 16 PMID:25741868|PMID:25961457|PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1352192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:1352192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:7240710 20170329 OMIM 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair PMID:24671081|PMID:25741868|PMID:28492532 2320289 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:9775 diastolic heart failure ISO RGD:1352192 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 2320294 Smco2 single-pass membrane protein with coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:2303335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320341 LOC100361324 hypothetical LOC100361324 gene DOID:0080600 COVID-19 ISO RGD:1344694 D RGD:9068941 20220204 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2320342 Astn2 astrotactin 2 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:31624253|PMID:33296226|PMID:4269389 2320342 Astn2 astrotactin 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532 2320342 Astn2 astrotactin 2 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1314130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 2320342 Astn2 astrotactin 2 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266 2320342 Astn2 astrotactin 2 gene DOID:12783 migraine without aura ISO RGD:1314130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 2320342 Astn2 astrotactin 2 gene DOID:12849 autistic disorder ISO RGD:1314130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 2320342 Astn2 astrotactin 2 gene DOID:12849 autistic disorder ISO RGD:1314130 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2320342 Astn2 astrotactin 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 2320342 Astn2 astrotactin 2 gene DOID:423 myopathy ISO RGD:1314130 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 2320342 Astn2 astrotactin 2 gene DOID:5419 schizophrenia ISO RGD:1314130 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2320342 Astn2 astrotactin 2 gene DOID:630 genetic disease ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 2320342 Astn2 astrotactin 2 gene DOID:670 amphetamine abuse ISO RGD:1314130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 2320342 Astn2 astrotactin 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314130 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 2320351 Prr9 proline rich 9 gene DOID:0111940 immunodeficiency 42 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2320351 Prr9 proline rich 9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2320351 Prr9 proline rich 9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:4143661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2320351 Prr9 proline rich 9 gene DOID:1540 parathyroid carcinoma ISO RGD:4143661 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2320351 Prr9 proline rich 9 gene DOID:5812 MHC class II deficiency ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2320351 Prr9 proline rich 9 gene DOID:630 genetic disease ISO RGD:4143661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320351 Prr9 proline rich 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:4143661 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2320469 Tyk2 tyrosine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1316192 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 2320469 Tyk2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:7240710 20130221 OMIM 2320469 Tyk2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency PMID:16199547|PMID:17088085|PMID:17576681|PMID:21680795|PMID:22402565|PMID:24033266|PMID:25388448|PMID:25741868|PMID:25849893|PMID:26288847|PMID:26304966|PMID:27615517|PMID:27872624|PMID:28492532|PMID:29725107|PMID:30578352|PMID:31118190|PMID:32537443|PMID:33260630|PMID:33667394|PMID:34569645|PMID:35708626|PMID:9536098 2320469 Tyk2 tyrosine kinase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1316192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22961000 2320469 Tyk2 tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1316192 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 2320469 Tyk2 tyrosine kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1316192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 2320469 Tyk2 tyrosine kinase 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316192 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 2320469 Tyk2 tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2320469 Tyk2 tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1316192 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 2320469 Tyk2 tyrosine kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1316192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 2320469 Tyk2 tyrosine kinase 2 gene DOID:8893 psoriasis ISO RGD:1316192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 2320469 Tyk2 tyrosine kinase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1316192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 2320469 Tyk2 tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 2320469 Tyk2 tyrosine kinase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316192 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224649 2320469 Tyk2 tyrosine kinase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316192 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Virus-induced diabetes PMID:26288847 2320469 Tyk2 tyrosine kinase 2 gene DOID:9970 obesity ISS RGD:1316193 D RGD:13592920 20180518 MouseDO OMIM:601665 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:5477831 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:5477831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:5477831 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:5477831 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:5477831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:630 genetic disease ISO RGD:5477831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:5477831 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:5477831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2320471 Spata31f1 SPATA31 subfamily F member 1 gene DOID:9870 galactosemia ISO RGD:5477831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 2320491 Ankub1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 2320491 Ankub1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1348688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320494 Snrpa1 small nuclear ribonucleoprotein polypeptide A' gene DOID:630 genetic disease ISO RGD:1321959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320494 Snrpa1 small nuclear ribonucleoprotein polypeptide A' gene DOID:65 connective tissue disease ISO RGD:1321959 D RGD:10448928|PMID:2968364 20160202 RGD 2320498 Cxhxorf49 similar to human chromosome X open reading frame 49 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2303429 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2320498 Cxhxorf49 similar to human chromosome X open reading frame 49 gene DOID:12849 autistic disorder ISO RGD:2303429 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2320523 LOC100361240 ribosomal protein S10-like gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:7365593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 PMID:20116044|PMID:23718193|PMID:25741868|PMID:28492532 2320523 LOC100361240 ribosomal protein S10-like gene DOID:1339 Diamond-Blackfan anemia ISO RGD:7365593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:20116044|PMID:23718193|PMID:25741868|PMID:28492532|PMID:9536098 2320523 LOC100361240 ribosomal protein S10-like gene DOID:630 genetic disease ISO RGD:7365593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20116044|PMID:25741868|PMID:28492532 2320529 Btbd19 BTB domain containing 19 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2320529 Btbd19 BTB domain containing 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:3031244 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2320529 Btbd19 BTB domain containing 19 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2320529 Btbd19 BTB domain containing 19 gene DOID:630 genetic disease ISO RGD:3031244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320648 Krtap27-1 keratin associated protein 27-1 gene DOID:630 genetic disease ISO RGD:2292072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320667 Or7h8 olfactory receptor family 7 subfamily H member 8 gene DOID:12849 autistic disorder ISO RGD:1353359 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2320667 Or7h8 olfactory receptor family 7 subfamily H member 8 gene DOID:630 genetic disease ISO RGD:1353359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320673 Etfrf1 electron transfer flavoprotein regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1606960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320695 Rgs21 regulator of G-protein signaling 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1353958 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2320695 Rgs21 regulator of G-protein signaling 21 gene DOID:630 genetic disease ISO RGD:1353958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320695 Rgs21 regulator of G-protein signaling 21 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1353958 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 2320695 Rgs21 regulator of G-protein signaling 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353958 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2320714 Mkrn2os MKRN2 opposite strand gene DOID:630 genetic disease ISO RGD:6481351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320722 Dgkq diacylglycerol kinase, theta gene DOID:12894 Sjogren's syndrome ISO RGD:1318208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 2320722 Dgkq diacylglycerol kinase, theta gene DOID:1856 cherubism ISO RGD:1318208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 2320722 Dgkq diacylglycerol kinase, theta gene DOID:630 genetic disease ISO RGD:1318208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320722 Dgkq diacylglycerol kinase, theta gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1318208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 2320726 Shisa9 shisa family member 9 gene DOID:5419 schizophrenia ISO RGD:3160513 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2320726 Shisa9 shisa family member 9 gene DOID:630 genetic disease ISO RGD:3160513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320727 Mycbp Myc binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2320727 Mycbp Myc binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315945 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2320735 Pom121l12 POM121 transmembrane nucleoporin-like 12 gene DOID:12849 autistic disorder ISO RGD:1601803 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2320735 Pom121l12 POM121 transmembrane nucleoporin-like 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601803 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2320735 Pom121l12 POM121 transmembrane nucleoporin-like 12 gene DOID:630 genetic disease ISO RGD:1601803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320755 LOC100361105 Igh protein-like gene DOID:0080600 COVID-19 ISO RGD:1348956 D RGD:9068941 20210730 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2320756 LOC100361104 CG10869-like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 2320756 LOC100361104 CG10869-like gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:5487050 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 2320756 LOC100361104 CG10869-like gene DOID:1826 epilepsy ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 2320756 LOC100361104 CG10869-like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5487050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2320756 LOC100361104 CG10869-like gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 2320756 LOC100361104 CG10869-like gene DOID:630 genetic disease ISO RGD:5487050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601883 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:630 genetic disease ISO RGD:1601883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601883 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2320792 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601883 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2320810 Krtap24-1 keratin associated protein 24-1 gene DOID:630 genetic disease ISO RGD:2292073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320868 Malrd1 MAM and LDL receptor class A domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346421 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 2320873 LOC100361087 hypothetical LOC100361087 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:2301261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2320873 LOC100361087 hypothetical LOC100361087 gene DOID:1540 parathyroid carcinoma ISO RGD:2301261 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2320873 LOC100361087 hypothetical LOC100361087 gene DOID:630 genetic disease ISO RGD:2301261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320873 LOC100361087 hypothetical LOC100361087 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2301261 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2320907 Hbq1b hemoglobin subunit theta 1B gene DOID:1099 alpha thalassemia ISO RGD:1313995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:12393486|PMID:1553958|PMID:15650030|PMID:20154289|PMID:21599435|PMID:2318293|PMID:23590659|PMID:24025420|PMID:28791910|PMID:30864493|PMID:3191033|PMID:538560|PMID:7910813|PMID:8781536 2320907 Hbq1b hemoglobin subunit theta 1B gene DOID:630 genetic disease ISO RGD:1313995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320917 Dytn dystrotelin gene DOID:14557 primary pulmonary hypertension ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2320917 Dytn dystrotelin gene DOID:630 genetic disease ISO RGD:1606642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320917 Dytn dystrotelin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606642 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2320942 LOC100361018 rCG22048-like gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:16679490|PMID:21940737|PMID:25741868|PMID:28492532|PMID:30303587 2320942 LOC100361018 rCG22048-like gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1346064 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17850630|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:31445392 2320942 LOC100361018 rCG22048-like gene DOID:0110826 Usher syndrome type 1 ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:17576681|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27460420|PMID:28492532|PMID:30311386|PMID:9536098 2320942 LOC100361018 rCG22048-like gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1346064 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:25741868|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:0110831 Usher syndrome type 1D ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:17850630|PMID:18273900|PMID:18429043|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:30311386|PMID:31445392 2320942 LOC100361018 rCG22048-like gene DOID:0112008 pituitary adenoma 5 ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28413019|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:630 genetic disease ISO RGD:1346064 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:20613545|PMID:21940737|PMID:25741868|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:8501 fundus dystrophy ISO RGD:1346064 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 2320942 LOC100361018 rCG22048-like gene DOID:9004538 Hearing Loss ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:28492532|PMID:30311386 2320942 LOC100361018 rCG22048-like gene DOID:9849 Meniere's disease ISO RGD:1346064 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 2320944 Ventx VENT homeobox gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354153 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 2320944 Ventx VENT homeobox gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354153 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 2320944 Ventx VENT homeobox gene DOID:630 genetic disease ISO RGD:1354153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2320953 Adig adipogenin gene DOID:2234 focal epilepsy ISO RGD:1606699 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2320953 Adig adipogenin gene DOID:630 genetic disease ISO RGD:1606699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321 Cdh22 cadherin 22 gene DOID:2234 focal epilepsy ISO RGD:732591 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2321 Cdh22 cadherin 22 gene DOID:630 genetic disease ISO RGD:732591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321 Cdh22 cadherin 22 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732591 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:7240710 20190315 OMIM 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 53 PMID:25741868|PMID:26385063|PMID:28492532 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:11716 prediabetes syndrome IEP D RGD:7777162|PMID:10630383 20140106 RGD protein:increased expression:pancreatic islet 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:2298697|PMID:9724088 20140106 RGD protein:decreased localization:T cell, nucleus 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:7777150|PMID:21640702 20140103 RGD protein:increased expression:breast 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1353567 D RGD:2300270|PMID:12452071 20140103 RGD mRNA, protein:increased expression:urinary bladder mucosa, nucleus 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:7777149|PMID:10940923 20140103 RGD 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISS RGD:1558382 D RGD:13592920 20180518 MouseDO OMIM:603165 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction IDA D RGD:7777163|PMID:9328931 20140106 RGD protein:increased activity:kidney 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:557 kidney disease IDA D RGD:6483553|PMID:22017545 20140106 RGD protein:increased localization: kidney tubule epithelium, nucleus 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1353567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:767 muscular atrophy IDA D RGD:7777164|PMID:11919155 20140106 RGD protein:decreased localization:soleus, nucleus 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1558382 D RGD:2300264|PMID:12897145 20140103 RGD 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage IDA D RGD:2302394|PMID:17250675 20140106 RGD mRNA, protein:increased expression, increased activity:striatum 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment IMP D RGD:7777161|PMID:23196258 20140106 RGD 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1353567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2321078 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1558382 D RGD:7777148|PMID:16260626 20140103 RGD 2321124 Anapc16 anaphase promoting complex subunit 16 gene DOID:630 genetic disease ISO RGD:1345646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321140 Igll1 immunoglobulin lambda-like polypeptide 1 gene DOID:0080600 COVID-19 ISO RGD:3362168 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2321140 Igll1 immunoglobulin lambda-like polypeptide 1 gene DOID:11198 DiGeorge syndrome ISO RGD:3362168 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 2321140 Igll1 immunoglobulin lambda-like polypeptide 1 gene DOID:5419 schizophrenia ISO RGD:3362168 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2321140 Igll1 immunoglobulin lambda-like polypeptide 1 gene DOID:630 genetic disease ISO RGD:3362168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0050902 medulloblastoma ISO RGD:1347453 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0060040 pervasive developmental disorder ISO RGD:1347453 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868|PMID:28135719|PMID:35395208 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347453 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1107 esophageal carcinoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1324 lung cancer ISO RGD:1347453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1909 melanoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:2513 basal cell carcinoma ISO RGD:1347453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:2671 transitional cell carcinoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3068 glioblastoma ISO RGD:1347453 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3070 high grade glioma ISO RGD:1347453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18931460 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:363 uterine cancer ISO RGD:1347453 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3717 gastric adenocarcinoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347453 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1347453 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1347453 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347453 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:630 genetic disease ISO RGD:1347453 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:8923 skin melanoma ISO RGD:1347453 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9000135 Developmental Delay, Hypotonia, and Impaired Language ISO RGD:1347453 D RGD:7240710 20221109 OMIM 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9000135 Developmental Delay, Hypotonia, and Impaired Language ISO RGD:1347453 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language PMID:25741868|PMID:28135719|PMID:35395208 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9002981 Genomic Instability ISO RGD:1347453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347453 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1347453 D RGD:21408566|PMID:28846828 20200318 RGD associated with colorectal cancer; 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1347453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1347453 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347453 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347453 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast tumor PMID:26619011 2321145 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:1347453 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2321209 Nwd1 NACHT and WD repeat domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1604179 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2321209 Nwd1 NACHT and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1604179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321291 Ypel1 yippee-like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 2321291 Ypel1 yippee-like 1 gene DOID:0080600 COVID-19 ISO RGD:1351763 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2321291 Ypel1 yippee-like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1351763 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 2321337 LOC100360821 rCG55159-like gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1604527 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1604527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:0080942 anauxetic dysplasia ISO RGD:1604527 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1604527 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:630 genetic disease ISO RGD:1604527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321337 LOC100360821 rCG55159-like gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1604527 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2321337 LOC100360821 rCG55159-like gene DOID:9870 galactosemia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 2321418 Btbd8 BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1347221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321463 Tmco2 transmembrane and coiled-coil domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603584 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2321463 Tmco2 transmembrane and coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:1603584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321481 Mroh8 maestro heat-like repeat family member 8 gene DOID:2234 focal epilepsy ISO RGD:1352113 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2321481 Mroh8 maestro heat-like repeat family member 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1352113 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 2321481 Mroh8 maestro heat-like repeat family member 8 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1352113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 2321497 LOC100360761 rCG64219-like gene DOID:0080600 COVID-19 ISO RGD:1349216 D RGD:9068941 20210730 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2321501 Ctcfl CCCTC-binding factor like gene DOID:630 genetic disease ISO RGD:1313529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321506 Ccdc122 coiled-coil domain containing 122 gene DOID:1024 leprosy ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 2321506 Ccdc122 coiled-coil domain containing 122 gene DOID:630 genetic disease ISO RGD:1602063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321506 Ccdc122 coiled-coil domain containing 122 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25741868 2321593 Nktr natural killer cell triggering receptor gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 2321593 Nktr natural killer cell triggering receptor gene DOID:630 genetic disease ISO RGD:1353165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321596 Rnf11 ring finger protein 11 gene DOID:630 genetic disease ISO RGD:1314582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:155997763 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156000193 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156074110 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156151068 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156170332 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156210178 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156227491 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:156318374 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321626 ZNF567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:329367195 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321667 Lipj lipase family member J gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 2321667 Lipj lipase family member J gene DOID:630 genetic disease ISO RGD:1603579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321667 Lipj lipase family member J gene DOID:783 end stage renal disease ISO RGD:1603579 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment IDA D RGD:10760401|PMID:15494537 20160205 RGD mouse model 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0110698 hypotrichosis 1 ISO RGD:1313167 D RGD:10768831|PMID:23246290 20160209 RGD DNA:snp:cds:c.1A>G (human) 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:7240710 20140911 OMIM 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Hypotrichosis 11 PMID:23246290|PMID:9621144 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:10283 prostate cancer severity ISO RGD:1313167 D RGD:10768830|PMID:22740892 20160209 RGD mRNA:increased expression:prostate gland (human) 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:1540 parathyroid carcinoma ISO RGD:1313167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:1924 hypogonadism ISO RGD:1313168 D RGD:10768832|PMID:22258617 20160209 RGD DNA:missense mutation:cds:p.E51D (mouse) 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313167 D RGD:10768834|PMID:22876301 20160209 RGD mRNA:increased expression:lung (human) 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:4535 hypotrichosis ISO RGD:1313167 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:630 genetic disease ISO RGD:1313167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:684 hepatocellular carcinoma ISO RGD:1313167 D RGD:10768833|PMID:21688285 20160209 RGD human gene in a mouse model 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:769 neuroblastoma severity ISO RGD:1313167 D RGD:10755762|PMID:17075126 20160204 RGD mRNA:decreased expression:neuroblastoma (human) 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313167 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313167 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9261 nasopharynx carcinoma ISO RGD:1313167 D RGD:10755709|PMID:24080422 20160203 RGD mRNA:increased expression:nasopharynx (human) 2321675 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1313167 D RGD:10768836|PMID:23915977 20160209 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) 2321691 Lrtm1 leucine-rich repeats and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:1606530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321693 Rrp36 ribosomal RNA processing 36 gene DOID:0050444 infantile Refsum disease ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 2321693 Rrp36 ribosomal RNA processing 36 gene DOID:630 genetic disease ISO RGD:1317478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321693 Rrp36 ribosomal RNA processing 36 gene DOID:905 Zellweger syndrome ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 2321717 Pxt1 peroxisomal testis enriched protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1349206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2321717 Pxt1 peroxisomal testis enriched protein 1 gene DOID:630 genetic disease ISO RGD:1349206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321734 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1350713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321734 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1350713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 2321734 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350713 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2321734 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1350713 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 2321744 Krbox1 KRAB box domain containing 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:5130419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 2321744 Krbox1 KRAB box domain containing 1 gene DOID:630 genetic disease ISO RGD:5130419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321751 Zranb1 zinc finger RANBP2-type containing 1 gene DOID:630 genetic disease ISO RGD:1318817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321830 Hkdc1 hexokinase domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1354446 D RGD:8554872 20161025 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 2321830 Hkdc1 hexokinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1354446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321830 Hkdc1 hexokinase domain containing 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1354446 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Keratoconus 1 2321830 Hkdc1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:7240710 20211201 OMIM 2321830 Hkdc1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 92 PMID:30085091 2321830 Hkdc1 hexokinase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1354446 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 2321863 Fanci FA complementation group I gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605380 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 2321863 Fanci FA complementation group I gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1605380 D RGD:11049143|PMID:17409780 20160707 RGD 2321863 Fanci FA complementation group I gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1605380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22189570|PMID:23524600|PMID:23783014|PMID:24033266|PMID:24086434|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532|PMID:30634555 2321863 Fanci FA complementation group I gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:11344924|PMID:17452773 20160708 RGD DNA:mutations:exon, intron:multiple 2321863 Fanci FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:7240710 20130515 OMIM 2321863 Fanci FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:20971953|PMID:21324748|PMID:22720145|PMID:22778927|PMID:23093618|PMID:23524600|PMID:23613520|PMID:24989076|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26590883|PMID:27987238|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:30076350|PMID:30303537|PMID:30773290|PMID:32546565|PMID:33558524|PMID:34861889|PMID:9536098 2321863 Fanci FA complementation group I gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605380 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:10534 stomach cancer ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:25741868|PMID:28875981 2321863 Fanci FA complementation group I gene DOID:10907 microcephaly ISO RGD:1605380 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:13636 Fanconi anemia ISO RGD:1605380 D RGD:11344925|PMID:26590883 20160708 RGD DNA:mutations: :multiple 2321863 Fanci FA complementation group I gene DOID:13636 Fanconi anemia ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098 2321863 Fanci FA complementation group I gene DOID:1612 breast cancer ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:33558524 2321863 Fanci FA complementation group I gene DOID:1826 epilepsy ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:2717 Bloom syndrome ISO RGD:1605380 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2321863 Fanci FA complementation group I gene DOID:630 genetic disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:684 hepatocellular carcinoma ISO RGD:1605380 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2321863 Fanci FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1605380 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 2321863 Fanci FA complementation group I gene DOID:9256 colorectal cancer ISO RGD:1605380 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:25741868|PMID:28492532 2321875 Nt5c 5', 3'-nucleotidase, cytosolic gene DOID:630 genetic disease ISO RGD:1353894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321875 Nt5c 5', 3'-nucleotidase, cytosolic gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 2321886 Cpxcr1 CPX chromosome region, candidate 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345373 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2321886 Cpxcr1 CPX chromosome region, candidate 1 gene DOID:12849 autistic disorder ISO RGD:1345373 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2321886 Cpxcr1 CPX chromosome region, candidate 1 gene DOID:630 genetic disease ISO RGD:1345373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321905 Fzd7 frizzled class receptor 7 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 2321905 Fzd7 frizzled class receptor 7 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 2321905 Fzd7 frizzled class receptor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 2321905 Fzd7 frizzled class receptor 7 gene DOID:2154 nephroblastoma ISO RGD:1314691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 2321905 Fzd7 frizzled class receptor 7 gene DOID:630 genetic disease ISO RGD:1314691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2321905 Fzd7 frizzled class receptor 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314691 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 2321905 Fzd7 frizzled class receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314691 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2321905 Fzd7 frizzled class receptor 7 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 2321939 Hsh2d hematopoietic SH2 domain containing gene DOID:630 genetic disease ISO RGD:1313876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322 Cdh6 cadherin 6 gene DOID:630 genetic disease ISO RGD:735712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322 Cdh6 cadherin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735712 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2322 Cdh6 cadherin 6 gene DOID:9007346 Cachexia ISO RGD:735712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 2322069 Fam131a family with sequence similarity 131, member A gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1606725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 2322069 Fam131a family with sequence similarity 131, member A gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1606725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 2322069 Fam131a family with sequence similarity 131, member A gene DOID:0111546 Currarino syndrome ISO RGD:1606725 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 2322069 Fam131a family with sequence similarity 131, member A gene DOID:630 genetic disease ISO RGD:1606725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322080 Sh2d3a SH2 domain containing 3A gene DOID:0080490 mucolipidosis type IV ISO RGD:1348075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 2322080 Sh2d3a SH2 domain containing 3A gene DOID:630 genetic disease ISO RGD:1348075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322081 Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:0060417 3p deletion syndrome ISO RGD:1312992 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 2322081 Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:630 genetic disease ISO RGD:1312992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322099 Fmn2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:7240710 20170510 OMIM 2322099 Fmn2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 PMID:25741868|PMID:28492532 2322099 Fmn2 formin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1345437 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 2322099 Fmn2 formin 2 gene DOID:1059 intellectual disability ISO RGD:1345437 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2322099 Fmn2 formin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345437 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2322099 Fmn2 formin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 2322099 Fmn2 formin 2 gene DOID:630 genetic disease ISO RGD:1345437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2322099 Fmn2 formin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345437 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 2322099 Fmn2 formin 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 2322099 Fmn2 formin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345437 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2322119 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1351028 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 2322119 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 2322119 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:7240710 20200930 OMIM 2322119 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 PMID:27356879|PMID:28492532|PMID:32671698 2322119 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:2451 protein S deficiency ISO RGD:1351028 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 2322119 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2322129 E2f4 E2F transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2322129 E2f4 E2F transcription factor 4 gene DOID:10754 otitis media ISS RGD:1323112 D RGD:13592920 20180518 MouseDO OMIM:166760 2322129 E2f4 E2F transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:1323111 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 2322129 E2f4 E2F transcription factor 4 gene DOID:630 genetic disease ISO RGD:1323111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322129 E2f4 E2F transcription factor 4 gene DOID:9000918 Disease Progression ISO RGD:1323111 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1349680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322139 Rusc1 RUN and SH3 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349680 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2322144 Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:1909 melanoma ISO RGD:1318035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 2322144 Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:630 genetic disease ISO RGD:1318035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322150 Tsr1 TSR1, ribosome maturation factor gene DOID:0070297 primary microcephaly ISO RGD:1603994 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 2322150 Tsr1 TSR1, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2322150 Tsr1 TSR1, ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603994 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2322263 Cldn25 claudin 25 gene DOID:1059 intellectual disability ISO RGD:3436494 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2322263 Cldn25 claudin 25 gene DOID:630 genetic disease ISO RGD:3436494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322263 Cldn25 claudin 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:3436494 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2322273 LOC100360380 zinc finger protein 457-like gene DOID:630 genetic disease ISO RGD:2298741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322311 Msh6 mutS homolog 6 gene DOID:0060104 cerebellar medulloblastoma ISO RGD:1321738 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cerebellar medulloblastoma 2322311 Msh6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34519692|PMID:35430768|PMID:35535697|PMID:36073783|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27398995|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34271781|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36073783|PMID:36988593|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473|PMID:9774676 2322311 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IMP D RGD:2292505|PMID:18417481 20210428 RGD 2322311 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:7240710 20141015 OMIM 2322311 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:10413423|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:11153917|PMID:11333868|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19389263|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23757202|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25648859|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25848751|PMID:25871441|PMID:25892863|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26099011|PMID:26181448|PMID:26206375|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27331139|PMID:27380347|PMID:27398995|PMID:27443514 2322311 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:27449771|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528518|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29300386|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29785566|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30680046|PMID:30702970|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30877237|PMID:30883245|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32449172|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33654310|PMID:33693762|PMID:33827469|PMID:33888356|PMID:33937060|PMID:34271781|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1321738 D RGD:9068941 20220825 RGD PMID:9401011|REF_RGD_ID:1625103 2322311 Msh6 mutS homolog 6 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:26467025|PMID:27028851|PMID:28492532|PMID:29967336 2322311 Msh6 mutS homolog 6 gene DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 ISO RGD:1321738 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 PMID:22658618|PMID:25741868|PMID:28492532 2322311 Msh6 mutS homolog 6 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868|PMID:28492532|PMID:33471991 2322311 Msh6 mutS homolog 6 gene DOID:0110957 Gaucher's disease type I ISO RGD:1321738 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:22493294 2322311 Msh6 mutS homolog 6 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 2322311 Msh6 mutS homolog 6 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1321738 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 2322311 Msh6 mutS homolog 6 gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 2322311 Msh6 mutS homolog 6 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15872200|PMID:16000562|PMID:16283678|PMID:16813607|PMID:17531815|PMID:17557300|PMID:17594722|PMID:18269114|PMID:18301448|PMID:18809606|PMID:19389263|PMID:20028993|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23729658|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728327|PMID:25133505|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528518|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29755653|PMID:29887214|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33008098|PMID:33294277|PMID:33422027|PMID:33471991|PMID:35904628|PMID:36988593 2322311 Msh6 mutS homolog 6 gene DOID:10534 stomach cancer ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:10508506|PMID:11807791|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14974087|PMID:15098177|PMID:15236168|PMID:15365995|PMID:15483016|PMID:15837969|PMID:16199547|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16813607|PMID:16885385|PMID:17082796|PMID:17117178|PMID:17453009|PMID:17557300|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19526325|PMID:19723918|PMID:19851887|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22250089|PMID:22480969|PMID:22495361|PMID:22734033|PMID:22949379|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23700467|PMID:23733757|PMID:23757202|PMID:24033266|PMID:24068316|PMID:24100870|PMID:24244552|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728189|PMID:24933100|PMID:25006859|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26318770|PMID:26374070|PMID:26436112|PMID:26467025|PMID:26552419|PMID:26681312|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:27064304|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27854360|PMID:27965287|PMID:27978560|PMID:28176205|PMID:28195393|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28724667|PMID:29212164|PMID:29360161|PMID:29371908|PMID:29785566|PMID:29978187|PMID:30019097|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30536544|PMID:30702970|PMID:30730459|PMID:30787465|PMID:31391288|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:32008151|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32652087|PMID:32660107|PMID:32719484|PMID:32832836|PMID:33087929|PMID:33393477|PMID:33422027|PMID:33693762|PMID:34271781|PMID:34425783|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:9307272|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1321738 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 2322311 Msh6 mutS homolog 6 gene DOID:12192 sigmoid colon cancer ISO RGD:1321738 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 2322311 Msh6 mutS homolog 6 gene DOID:1380 endometrial cancer ISO RGD:1321738 D RGD:7240710 20190213 OMIM 2322311 Msh6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30306255|PMID:30322717|PMID:30337059|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30729418|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31730237|PMID:31857677|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33693762|PMID:8838326|PMID:9345684|PMID:9536098 2322311 Msh6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29174094|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31660093|PMID:31730237|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32156018|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32832836 2322311 Msh6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:32854451|PMID:32885271|PMID:32906206|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33693762|PMID:33746161|PMID:34425783|PMID:35128723|PMID:35263119|PMID:36988593|PMID:8838326|PMID:9345684|PMID:9536098|PMID:9774676 2322311 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:15952900|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23729658|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28166811|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32980694|PMID:33471991 2322311 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32634176|PMID:32980694|PMID:33471991 2322311 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469 2322311 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593 2322311 Msh6 mutS homolog 6 gene DOID:1896 sigmoid neoplasm ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 2322311 Msh6 mutS homolog 6 gene DOID:234 colon adenocarcinoma ISO RGD:1321738 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868 2322311 Msh6 mutS homolog 6 gene DOID:2394 ovarian cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10508506|PMID:10537275|PMID:11470537|PMID:12019211|PMID:15782118|PMID:16408224|PMID:16885385|PMID:17312306|PMID:17531815|PMID:17594722|PMID:18566915|PMID:21120944|PMID:22102614|PMID:22495361|PMID:23047549|PMID:23403630|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24448499|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26689913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28531214|PMID:28873162|PMID:29945567|PMID:30267214|PMID:30982232|PMID:31307542|PMID:31742824|PMID:32068069|PMID:33294277|PMID:33471991 2322311 Msh6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10471527|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16408224|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17259933|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17909073|PMID:18033691|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23359684|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23757202|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26099011|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26436109|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26648449|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26901136|PMID:26934580|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27380347|PMID:27398995|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27920101|PMID:27930734|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28323777|PMID:28369758|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28528518|PMID:28531214|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28912153|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30225334|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30670635|PMID:30702970|PMID:30730459|PMID:30787465|PMID:30877237 2322311 Msh6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31297337|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31501241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31783044|PMID:31844177|PMID:31845022|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31970404|PMID:32008151|PMID:32019284|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32141610|PMID:32242007|PMID:32251017|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32615015|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33294277|PMID:33422027|PMID:33471991|PMID:33606809|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35263119|PMID:35884469|PMID:35904628|PMID:36988593|PMID:5559809|PMID:8063241|PMID:9307272|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3247 rhabdomyosarcoma ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:21520333|PMID:26467025|PMID:28153049|PMID:28492532|PMID:29750335|PMID:29755653|PMID:30128536|PMID:31100584|PMID:31965077|PMID:33467402 2322311 Msh6 mutS homolog 6 gene DOID:3347 osteosarcoma disease_progression ISO RGD:1321738 D RGD:126848779|PMID:25503122 20210430 RGD 2322311 Msh6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:8838326 2322311 Msh6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:8838326 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9354786|PMID:11586295|PMID:18417481|PMID:22102614|PMID:25701956 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35904628|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36073783|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:3910 lung adenocarcinoma ISO RGD:1321738 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 2322311 Msh6 mutS homolog 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:1321738 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 2322311 Msh6 mutS homolog 6 gene DOID:4001 ovarian carcinoma ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:20028993|PMID:25741868|PMID:26517685 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32566746|PMID:32773772|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:34371384|PMID:9510473 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:630 genetic disease ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11709755|PMID:17576681|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24728327|PMID:25419514|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26901136|PMID:28492532|PMID:28691247|PMID:29684080|PMID:30057029|PMID:30267214|PMID:31422818|PMID:32068069|PMID:32615015|PMID:32658311|PMID:33471991|PMID:9536098 2322311 Msh6 mutS homolog 6 gene DOID:6741 bilateral breast cancer ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:23047549|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28687356|PMID:29641532|PMID:29684080|PMID:31159747|PMID:32658311|PMID:33558524 2322311 Msh6 mutS homolog 6 gene DOID:687 hepatoblastoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21520333|PMID:25741868|PMID:28492532 2322311 Msh6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability IMP D RGD:2292505|PMID:18417481 20210428 RGD 2322311 Msh6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:1321738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 2322311 Msh6 mutS homolog 6 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1321738 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 2322311 Msh6 mutS homolog 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321738 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:18269114|PMID:24362816|PMID:28492532 2322311 Msh6 mutS homolog 6 gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 2322311 Msh6 mutS homolog 6 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15872200|PMID:16813607|PMID:17531815|PMID:17594722|PMID:18269114|PMID:18301448|PMID:18809606|PMID:19389263|PMID:20028993|PMID:20379851|PMID:20487569|PMID:20937110|PMID:21120944|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24448499|PMID:24728327|PMID:25133505|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528518|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29755653|PMID:29887214|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30982232|PMID:31100584|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33008098|PMID:33294277|PMID:33422027|PMID:33471991|PMID:35904628|PMID:36988593 2322311 Msh6 mutS homolog 6 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 2322311 Msh6 mutS homolog 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 2322311 Msh6 mutS homolog 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321738 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 2322311 Msh6 mutS homolog 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:18269114|PMID:24362816|PMID:28492532 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34445333|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30211344|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34873480|PMID:35039564|PMID:35263119|PMID:35535697|PMID:35806449|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29174094|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241 2322311 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9007150 Urogenital Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:16288216|REF_RGD_ID:2293511 2322311 Msh6 mutS homolog 6 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10508506 2322311 Msh6 mutS homolog 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321738 D RGD:2306714|PMID:11900875 20140528 RGD 2322311 Msh6 mutS homolog 6 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681 2322311 Msh6 mutS homolog 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:35806449|PMID:9536098 2322311 Msh6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:7240710 20201202 OMIM 2322311 Msh6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3 PMID:10508506|PMID:10521294|PMID:10537275|PMID:10699937|PMID:11153917|PMID:11586295|PMID:11709755|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340263|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15805151|PMID:15837969|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17661183|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19459153|PMID:19526325|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:21056691|PMID:21155762|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23652311|PMID:23757202|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24689082|PMID:24728327|PMID:24989436|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25318681|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26552419|PMID:26681312|PMID:26787237|PMID:26845104|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27380347|PMID:27443514|PMID:27456091|PMID:27601186|PMID:27854360|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28176205|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29684080|PMID:29717530|PMID:29978187|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30337059|PMID:30387329|PMID:30521064|PMID:30729418|PMID:30730459|PMID:30787465|PMID:31054147|PMID:31391288|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32042422|PMID:32060697|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32566746|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:33087929|PMID:33471991|PMID:34371384|PMID:34425783|PMID:34519692|PMID:36988593|PMID:9307272|PMID:9929971 2322311 Msh6 mutS homolog 6 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:30679813|PMID:34505148 2322311 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 2322311 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 2322311 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991 2322311 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723 2322311 Msh6 mutS homolog 6 gene DOID:9460 uterine corpus cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:18269114|PMID:24362816|PMID:25741868|PMID:26467025|PMID:28492532 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:0050700 cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24088304|PMID:25741868|PMID:32335906 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1314439 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:30442288 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1314439 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314439 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088304|PMID:25741868 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1314439 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1314439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24088304|PMID:25741868 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:7240710 20210707 OMIM 2322319 Fhod3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 PMID:24088304|PMID:25741868|PMID:30442288|PMID:30898215|PMID:30898216|PMID:31742804|PMID:32335906|PMID:33586461 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1348831 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1348831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348831 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:5812 MHC class II deficiency ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:630 genetic disease ISO RGD:1348831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322332 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348831 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2322345 Fam83g family with sequence similarity 83, member G gene DOID:0050777 Joubert syndrome ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 2322345 Fam83g family with sequence similarity 83, member G gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606850 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 2322345 Fam83g family with sequence similarity 83, member G gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 2322345 Fam83g family with sequence similarity 83, member G gene DOID:12849 autistic disorder ISO RGD:1606850 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2322345 Fam83g family with sequence similarity 83, member G gene DOID:3390 palmoplantar keratosis ISO RGD:12095288 D RGD:9068941 20211203 OMIA Hyperkeratosis, palmoplantar, FAM83G-related PMID:10701186|PMID:12828257|PMID:24832243|PMID:26747202|PMID:29963719|PMID:34796560 2322345 Fam83g family with sequence similarity 83, member G gene DOID:630 genetic disease ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322345 Fam83g family with sequence similarity 83, member G gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0050777 Joubert syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0081097 Rafiq syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:1826 epilepsy ISO RGD:1354294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:3652 Leigh disease ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:1354294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322350 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 2322460 Zglp1 zinc finger, GATA-like protein 1 gene DOID:630 genetic disease ISO RGD:3418338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322545 Palld palladin, cytoskeletal associated protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1604638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 2322545 Palld palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2322545 Palld palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:2325782|PMID:17194196 20100610 RGD DNA, mRNA:missense mutation, increased expression:pancreas:p.P239S (human) 2322545 Palld palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532 2322545 Palld palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33764904 2322545 Palld palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer ISO RGD:1604638|RGD:1312486 D RGD:2325779|PMID:20436683 20100609 RGD protein:increased expression, alternative form:pancreas, fibroblast 2322545 Palld palladin, cytoskeletal associated protein gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1604638 D RGD:7240710 20190502 OMIM 2322545 Palld palladin, cytoskeletal associated protein gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604638 D RGD:2325781|PMID:17404500 20100610 RGD protein:increased expression, alternative form:pancreas, fibroblast 2322545 Palld palladin, cytoskeletal associated protein gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 2322545 Palld palladin, cytoskeletal associated protein gene DOID:4905 pancreatic carcinoma ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 2322545 Palld palladin, cytoskeletal associated protein gene DOID:630 genetic disease ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2322545 Palld palladin, cytoskeletal associated protein gene DOID:9000998 Brain Injuries IEP D RGD:2325786|PMID:12932445 20100610 RGD protein:increased expression:brain, astrocyte 2322545 Palld palladin, cytoskeletal associated protein gene DOID:9004657 Weight Gain ISO RGD:1604638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2322545 Palld palladin, cytoskeletal associated protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532 2322652 Rad51ap2 RAD51 associated protein 2 gene DOID:630 genetic disease ISO RGD:2311158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322707 Lemd1 LEM domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 2322707 Lemd1 LEM domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346619 D RGD:8554872 20220329 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2322707 Lemd1 LEM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346619 D RGD:8554872 20220329 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2322707 Lemd1 LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1346619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322707 Lemd1 LEM domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2322707 Lemd1 LEM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346619 D RGD:8554872 20220329 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:12449 aplastic anemia ISO RGD:1353824 D RGD:11049505|PMID:7492765 20160407 RGD protein:increased expression:serum,plasma: 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:13636 Fanconi anemia ISO RGD:1353824 D RGD:11049505|PMID:7492765 20160407 RGD protein:increased expression:serum,plasma: 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:1520 colon carcinoma treatment ISO RGD:1353824 D RGD:11049504|PMID:10842197 20160407 RGD 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:1793 pancreatic cancer IMP D RGD:11049499|PMID:16528542 20160407 RGD 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:3068 glioblastoma treatment ISO RGD:1353824 D RGD:11049502|PMID:18079358 20160407 RGD 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:3070 high grade glioma treatment ISO RGD:1353824 D RGD:11049500|PMID:15564139 20160407 RGD 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:4971 myelofibrosis ISO RGD:1353824 D RGD:11049484|PMID:21487043 20160406 RGD protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:5844 myocardial infarction treatment ISO RGD:1557069 D RGD:11049498|PMID:24184252 20160407 RGD 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:630 genetic disease ISO RGD:1353824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:9000300 Refractory Anemia ISO RGD:1353824 D RGD:11049479|PMID:10214861 20160406 RGD protein:increased expression:serum: 2322792 Flt3lg Fms related receptor tyrosine kinase 3 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1353824 D RGD:11075232|PMID:26521986 20160510 RGD protein:increased expression:serum: 2322809 Mrpl33 mitochondrial ribosomal protein L33 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 2322856 Tmem207 transmembrane protein 207 gene DOID:2433 epidermal appendage tumor ISS RGD:2299488 D RGD:13592920 20180518 MouseDO 2322856 Tmem207 transmembrane protein 207 gene DOID:5419 schizophrenia ISO RGD:1602436 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2322856 Tmem207 transmembrane protein 207 gene DOID:630 genetic disease ISO RGD:1602436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322870 Znhit1 zinc finger, HIT-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318185 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2322870 Znhit1 zinc finger, HIT-type containing 1 gene DOID:630 genetic disease ISO RGD:1318185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322879 Evi5 ecotropic viral integration site 5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1350871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 2322879 Evi5 ecotropic viral integration site 5 gene DOID:630 genetic disease ISO RGD:1350871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322891 Vstm1 V-set and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1604181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322904 Zfp366 zinc finger protein 366 gene DOID:0080600 COVID-19 ISO RGD:1314635 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2322904 Zfp366 zinc finger protein 366 gene DOID:11198 DiGeorge syndrome ISS RGD:1616531 D RGD:13592920 20180518 MouseDO OMIM:188400 2322904 Zfp366 zinc finger protein 366 gene DOID:303 substance-related disorder ISO RGD:1314635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2322904 Zfp366 zinc finger protein 366 gene DOID:630 genetic disease ISO RGD:1314635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322904 Zfp366 zinc finger protein 366 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314635 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2322904 Zfp366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1314635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008677 2322904 Zfp366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1616531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21122099 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1312391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1312391 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1312391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:1588 thrombocytopenia ISO RGD:1312391 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:3393 coronary artery disease ISO RGD:1312391 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:630 genetic disease ISO RGD:1312391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322928 Mrps6 mitochondrial ribosomal protein S6 gene DOID:9005698 ZTTK Syndrome ISO RGD:1312391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 2322930 Car10 carbonic anhydrase 10 gene DOID:630 genetic disease ISO RGD:1352724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322953 Ly6k lymphocyte antigen 6 family member K gene DOID:630 genetic disease ISO RGD:1345514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322961 Ddit4l DNA-damage-inducible transcript 4-like gene DOID:1909 melanoma ISO RGD:1342784 D RGD:11554173 20170627 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 2322961 Ddit4l DNA-damage-inducible transcript 4-like gene DOID:630 genetic disease ISO RGD:1342784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2322990 Zfp69 zinc finger protein 69 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343701 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2322990 Zfp69 zinc finger protein 69 gene DOID:630 genetic disease ISO RGD:1343701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:737039 D RGD:11251750|PMID:20658957 20160621 RGD DNA:hypermethylation: : 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060058 lymphoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:737039 D RGD:8552306|PMID:20118908 20140417 RGD DNA:deletion (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060071 pre-malignant neoplasm IDA D RGD:1600820|PMID:12547284 20070327 RGD DNA:hypermethylation 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060221 Maffucci syndrome ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:11687599|PMID:12532425|PMID:12538475|PMID:16234564|PMID:16818274|PMID:16896043|PMID:17218939|PMID:17255954|PMID:18519632|PMID:19690981|PMID:21150883|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25980754|PMID:26104880|PMID:26225579|PMID:26467025|PMID:26681309|PMID:27621404|PMID:27756164|PMID:27960642|PMID:28492532|PMID:28726808|PMID:28765326|PMID:7718873|PMID:8710906|PMID:9166859|PMID:9416844 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:10322 D RGD:8552304|PMID:16620915 20140417 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0080001 bone disease ISO RGD:737039 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30259626 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10322 D RGD:11251772|PMID:21622646 20160622 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma susceptibility ISO RGD:737039 D RGD:11057958|PMID:26104880 20160623 RGD DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:10322 D RGD:11251751|PMID:16618932 20160622 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0111511 melanoma and neural system tumor syndrome ISO RGD:737039 D RGD:7240710 20190206 OMIM 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:0111511 melanoma and neural system tumor syndrome ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome PMID:10389768|PMID:10667595|PMID:10719365|PMID:10738302|PMID:11136714|PMID:11687599|PMID:15075790|PMID:16234564|PMID:16397522|PMID:16818274|PMID:16896043|PMID:17218939|PMID:17713569|PMID:18025365|PMID:18335566|PMID:18337833|PMID:18519632|PMID:19523171|PMID:20093296|PMID:21085193|PMID:21462282|PMID:22440936|PMID:24733792|PMID:25078331|PMID:25741868|PMID:25780468|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:30207590|PMID:30339520|PMID:31567591|PMID:31921681|PMID:32191290|PMID:33823155|PMID:35001868|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7881419|PMID:7987387|PMID:8570179|PMID:8573142|PMID:8653684|PMID:8727306|PMID:9166859|PMID:9389568|PMID:9916806 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:10041 dysplastic nevus syndrome ISO RGD:737039 D RGD:8552302|PMID:10338331 20140417 RGD DNA:missense mutation:exon:p.P48L (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:10283 prostate cancer ISO RGD:737039 D RGD:2289685|PMID:16483154 20080206 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:10283 prostate cancer disease_progression ISO RGD:737039 D RGD:2289684|PMID:16799475 20080206 RGD protein:increased expression:prostate gland 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:10534 stomach cancer ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:22804906|PMID:25741868|PMID:28492532|PMID:36988593 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:10763 hypertension IEP D RGD:2316082|PMID:18504326 20100125 RGD protein:increased expression:kidney 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12973940|PMID:15987713 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:2289687|PMID:15897688 20080207 RGD DNA:deletion 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:2296048|PMID:18234280 20080626 RGD protein:increased expression:urinary bladder 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:11054 urinary bladder cancer ISO RGD:737039 D RGD:2296052|PMID:17119258 20080626 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1107 esophageal carcinoma ISO RGD:737039 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011|PMID:28492532 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:11166 papillomavirus infectious disease ISO RGD:737039 D RGD:2296057|PMID:16415792 20080626 RGD associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:11166 papillomavirus infectious disease ISO RGD:737039 D RGD:2296058|PMID:16406113 20080626 RGD associated with Cervix Neoplasms;protein:increased expression:uterine cervix 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1240 leukemia ISO RGD:737039 D RGD:8548743|PMID:8631003 20140319 RGD DNA:hypermethylation 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1324 lung cancer ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:10498896|PMID:10892805|PMID:18803811|PMID:21462282|PMID:22841127|PMID:25741868|PMID:28492532|PMID:7777061|PMID:9751050 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1380 endometrial cancer IAGP D RGD:2316081|PMID:18558284 20100125 RGD DNA:deletions:exon (rat) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:14566 disease of cellular proliferation ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:11544531|PMID:19223589 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:14566 disease of cellular proliferation ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10360174|PMID:10491434|PMID:10498896|PMID:10874641|PMID:12606942|PMID:15146471|PMID:16234564|PMID:16374456|PMID:16896043|PMID:16905682|PMID:17255954|PMID:18573309|PMID:18983535|PMID:19523171|PMID:21085193|PMID:21462282|PMID:21801156|PMID:22841127|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26650189|PMID:26681309|PMID:28492532|PMID:31775759|PMID:7780957|PMID:7987387|PMID:8521414|PMID:8668202|PMID:9132280|PMID:9324288 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1612 breast cancer susceptibility ISO RGD:737039 D RGD:8552383|PMID:10922411 20140422 RGD DNA:insertion:cds:p.R112_L113insR (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1686 glaucoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1749 squamous cell carcinoma ISO RGD:10322 D RGD:8552295|PMID:15057871 20140417 RGD DNA:transitions: :multiple 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1749 squamous cell carcinoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1790 malignant mesothelioma ISO RGD:737039 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:19223589|PMID:21526190|PMID:29112861 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1793 pancreatic cancer ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:10627132|PMID:26098869 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1793 pancreatic cancer ISO RGD:737039 D RGD:5490966|PMID:18772397 20140725 RGD DNA:mutations:exon 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1909 melanoma ISO RGD:10322 D RGD:8552300|PMID:12538879 20140417 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1909 melanoma ISO RGD:737039 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:24495407|PMID:29426936 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1909 melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10389768|PMID:10491434|PMID:10508477|PMID:10738302|PMID:10869234|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11579459|PMID:11687599|PMID:11807902|PMID:12001124|PMID:12072543|PMID:12606942|PMID:14679123|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16397522|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17397031|PMID:17576681|PMID:17713569|PMID:17992122|PMID:18025365|PMID:18205010|PMID:18337833|PMID:18519632|PMID:18573309|PMID:19260062|PMID:19360740|PMID:19523171|PMID:20093296|PMID:20340136|PMID:20505745|PMID:21462282|PMID:21507037|PMID:21609436|PMID:21801156|PMID:24336570|PMID:24659262|PMID:25157968|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26381259|PMID:26467025|PMID:26619011|PMID:26658419|PMID:26681309|PMID:26775776|PMID:27181379|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28765326|PMID:28830827|PMID:29915805|PMID:29983899|PMID:30291219|PMID:30306255|PMID:30742731|PMID:31382929|PMID:31567591|PMID:31775759|PMID:7566978|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7881419|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8653684|PMID:8668202|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9166859|PMID:9324288|PMID:9328469|PMID:9425228|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841|PMID:9916806 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1909 melanoma susceptibility ISO RGD:737039 D RGD:1600812|PMID:9168184 20070327 RGD DNA:point mutation, insertion:exon 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:1967 leiomyosarcoma ISO RGD:737039 D RGD:2296049|PMID:18156978 20080626 RGD associated with Myometrial Neoplasms;protein:increased expression:myometrium 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:2154 nephroblastoma ISO RGD:737039 D RGD:2289679|PMID:17369505 20080206 RGD protein:increased expression:kidney 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:224 transient cerebral ischemia ISO RGD:10322 D RGD:8552691|PMID:11438580 20140425 RGD protein:decreased expression:striatum, neuron 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:2394 ovarian cancer ISO RGD:737039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17047042|PMID:19260062|PMID:20340316|PMID:21462282|PMID:22841127|PMID:24660985|PMID:25741868|PMID:26104880|PMID:28492532|PMID:30548481|PMID:35001868|PMID:9425228 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:2526 prostate adenocarcinoma ISO RGD:737039 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26619011|PMID:28492532 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:2671 transitional cell carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10491434|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9324288 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737039 D RGD:2289686|PMID:16316628 20080206 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:299 adenocarcinoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:20135361 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:2999 granulosa cell tumor ISO RGD:737039 D RGD:2296066|PMID:12203782 20080627 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3008 invasive ductal carcinoma ISO RGD:737039 D RGD:2289677|PMID:17383681 20080206 RGD DNA:hypermethylation:promoter:breast, serum 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3068 glioblastoma treatment ISO RGD:737039 D RGD:8552659|PMID:10720483 20140423 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3070 high grade glioma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:19578367 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3070 high grade glioma disease_progression ISO RGD:737039 D RGD:8552305|PMID:11314047 20140417 RGD DNA:deletions 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737039 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3192 neurilemmoma ISO RGD:737039 D RGD:1358481|PMID:10595918 19990101 RGD DNA,protein:deletion,decreased expression: : 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3247 rhabdomyosarcoma IDA D RGD:8552662|PMID:21565688 20140423 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3275 thymoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3304 germinoma ISO RGD:737039 D RGD:2289698|PMID:9554401 20080207 RGD DNA:transition:exon:142G>A 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3347 osteosarcoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoblastic osteosarcoma PMID:10389768|PMID:10667595|PMID:10719365|PMID:11687599|PMID:15075790|PMID:16234564|PMID:16818274|PMID:16896043|PMID:17218939|PMID:18335566|PMID:18519632|PMID:21085193|PMID:21462282|PMID:22440936|PMID:24733792|PMID:25078331|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:27756164|PMID:27960642|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:30207590|PMID:30339520|PMID:31921681|PMID:32191290|PMID:33823155|PMID:35001868|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7987387|PMID:8573142|PMID:9166859|PMID:9389568 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24986516 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3717 gastric adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3717 gastric adenocarcinoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3721 plasmacytoma ISO RGD:10322 D RGD:11251742|PMID:11113205 20160621 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737039 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3907 lung squamous cell carcinoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10498896|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:15235029|PMID:15860862|PMID:16354195|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18024887|PMID:18573309|PMID:20505745|PMID:21325014|PMID:21462282|PMID:21507037|PMID:22841127|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:8552400|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18337602|PMID:19375815 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3910 lung adenocarcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10491434|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9324288 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4074 pancreatic adenocarcinoma ISO RGD:737039 D RGD:8552283|PMID:16397522 20140417 RGD DNA:missense mutations:cds:p.V126D, p.A148T (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4074 pancreatic adenocarcinoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma IAGP D RGD:1298747|PMID:11839561 20070328 RGD DNA:gene instability 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:2289680|PMID:17201148 20080206 RGD DNA:deletion 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4450 renal cell carcinoma ISO RGD:737039 D RGD:2289699|PMID:15232742 20080207 RGD DNA, protein:hypermethylation, increased expression:promoter, kidney 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4465 papillary renal cell carcinoma ISO RGD:737039 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:25741868|PMID:26619011|PMID:28492532 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4488 sarcomatoid mesothelioma IAGP D RGD:7248760|PMID:20065947 20130816 RGD DNA:deletion 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4905 pancreatic carcinoma susceptibility ISO RGD:737039 D RGD:8552383|PMID:10922411 20140422 RGD DNA:insertion:cds:p.R112_L113insR (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4914 esophagus adenocarcinoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:4947 cholangiocarcinoma onset ISO RGD:737039 D RGD:2317417|PMID:15619210 20190617 RGD protein:decreased expression:liver 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5419 schizophrenia ISO RGD:737039 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737039 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24991542|PMID:26192916|PMID:26909611 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16374456|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18205010|PMID:18519632|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:21609436|PMID:21801156|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28765326|PMID:28830827|PMID:29915805|PMID:29983899|PMID:30291219|PMID:30742731|PMID:31382929|PMID:31775759|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8153634|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9166859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:737039 D RGD:8552291|PMID:21381012 20140417 RGD DNA:SNPs: :rs3731217, rs3088440 (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:10322 D RGD:11251744|PMID:23178376 20160621 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:10322 D RGD:11251774|PMID:19759355 20160622 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:11251765|PMID:17507663 20160622 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737039 D RGD:11251776|PMID:8637233 20160622 RGD DNA:deletion, missense, nonsense mutations:cds: 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:10322 D RGD:11251741|PMID:16407836 20160621 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:574 peripheral nervous system disease ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6171 uterine carcinosarcoma disease_progression ISO RGD:737039 D RGD:2296053|PMID:16803529 20080626 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:630 genetic disease ISO RGD:737039 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10389768|PMID:10508477|PMID:10869234|PMID:11579459|PMID:11807902|PMID:12001124|PMID:14679123|PMID:15146471|PMID:16818274|PMID:17397031|PMID:18519632|PMID:19260062|PMID:19360740|PMID:20340136|PMID:21462282|PMID:21801156|PMID:24659262|PMID:25741868|PMID:26381259|PMID:26467025|PMID:26658419|PMID:26681309|PMID:26775776|PMID:27181379|PMID:27756164|PMID:27960642|PMID:28146043|PMID:28492532|PMID:28592523|PMID:28765326|PMID:7566978|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8552158|PMID:8668202|PMID:8755727|PMID:9166859|PMID:9324288|PMID:9425228 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma IDA D RGD:1600822|PMID:12359353 20070327 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma IDA D RGD:8552680|PMID:11301474 20140425 RGD DNA:hypermethylation:exon 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma IEP D RGD:1600816|PMID:16317707 20070327 RGD Protein:increased expression:liver 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma ISO RGD:737039 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:25822088|PMID:28284560|PMID:33010264 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10491434|PMID:14508519|PMID:16234564|PMID:16896043|PMID:21462282|PMID:25157968|PMID:25741868|PMID:25780468|PMID:26225579|PMID:26467025|PMID:26619011|PMID:28492532|PMID:7780957|PMID:8521414|PMID:9185756|PMID:9324288 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:684 hepatocellular carcinoma severity ISO RGD:737039 D RGD:9068941 20200609 RGD Protein:decreased expression:liver PMID:16317707|REF_RGD_ID:1600816 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:7240710 20190410 OMIM 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30086788|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:6846 familial melanoma ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:768 retinoblastoma ISO RGD:737039 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:769 neuroblastoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:15814359 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:769 neuroblastoma treatment ISO RGD:737039 D RGD:10043806|PMID:24714808 20150528 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8398 osteoarthritis treatment IEP D RGD:10043190|PMID:24009074 20150519 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8541 Sezary's disease ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737039 D RGD:11251777|PMID:16533530 20160622 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8719 in situ carcinoma ISO RGD:737039 D RGD:2296048|PMID:18234280 20080626 RGD associated with Bladder Neoplasms;protein:increased expression:urinary bladder 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8923 skin melanoma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:22080950 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8923 skin melanoma ISO RGD:737039 D RGD:8552276|PMID:20653773 20140417 RGD DNA:frameshift mutations, deletions:cds:multiple (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8923 skin melanoma ISO RGD:737039 D RGD:8552302|PMID:10338331 20140417 RGD DNA:missense mutation:exon:p.P48L (human) 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8923 skin melanoma ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:2289675|PMID:17910346 20080206 RGD protein:increased expression 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:2289676|PMID:17415114 20080206 RGD protein:increased expression:uterine cervix 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737039 D RGD:2296054|PMID:16778587 20080626 RGD DNA:hypermethylation 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737039 D RGD:2296058|PMID:16406113 20080626 RGD protein:increased expression:uterine cervix 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000046 Poisoning ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000081 Lymphatic Metastasis ISO RGD:737039 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000117 Esophageal Neoplasms IEP D RGD:1600828|PMID:10969811 20070328 RGD Protein:decreased expression:esophagus 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000117 Esophageal Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18410530 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000392 Fluoride Poisoning ISO RGD:737039 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30259626 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737039 D RGD:2289698|PMID:9554401 20080627 RGD associated with Testicular Neoplasms;DNA:missense mutation, deletion, polymorphism:cds, intron:p.A140T 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737039 D RGD:8552280|PMID:18509008 20140417 RGD associated with Paraganglioma, Extra-Adrenal;DNA:hypermethylation 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002221 Hyperplasia treatment IEP D RGD:8552677|PMID:23427405 20140424 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:2289679|PMID:17369505 20080206 RGD protein:increased expression:kidney 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002265 Kidney Neoplasms ISO RGD:737039 D RGD:2289689|PMID:11037653 20080207 RGD DNA:loss of heterozygosity 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:10322 D RGD:2289681|PMID:17178860 20080206 RGD DNA, mRNA, protein:hypermethylation, increased expression:exon, prostate 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:737039 D RGD:8552686|PMID:10395320 20140425 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002644 Premature Aging ISO RGD:10322 D RGD:10043189|PMID:21108731 20150519 RGD protein:increased expression:skin 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002644 Premature Aging treatment ISO RGD:10322 D RGD:10043192|PMID:23207764 20150519 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737039 D RGD:2296056|PMID:16773633 20080626 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10738302|PMID:16397522|PMID:16896043|PMID:17713569|PMID:18025365|PMID:18337833|PMID:19523171|PMID:20093296|PMID:25741868|PMID:25780468|PMID:26467025|PMID:26681309|PMID:26775776|PMID:28492532|PMID:31567591|PMID:7881419|PMID:8570179|PMID:8653684|PMID:8727306|PMID:9916806 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737039 D RGD:2296051|PMID:17242700 20080626 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:737039 D RGD:2296050|PMID:17493241 20080626 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002777 Brain Stem Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9002928 Colonic Neoplasms IEP D RGD:1600823|PMID:12189186 20070327 RGD mRNA, Protein:decreased expression:colon 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:2289676|PMID:17415114 20080206 RGD protein:increased expression:uterine cervix 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737039 D RGD:2289678|PMID:17369842 20080206 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737039 D RGD:2296057|PMID:16415792 20080626 RGD protein:increased expression:uterine cervix 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9003566 Mesothelioma IAGP D RGD:7248760|PMID:20065947 20190813 RGD DNA:deletion 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9003566 Mesothelioma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18379362 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9003960 Trisomy ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9004441 Experimental Leukemia ISO RGD:10322 D RGD:11251764|PMID:10090949 20160622 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24495407 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005006 Melanoma-Pancreatic Cancer Syndrome ISO RGD:737039 D RGD:7240710 20190206 OMIM 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005006 Melanoma-Pancreatic Cancer Syndrome ISO RGD:737039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome PMID:10229204|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11156381|PMID:11360201|PMID:11433531|PMID:11506491|PMID:11556834|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:14508519|PMID:14679123|PMID:14735200|PMID:15075790|PMID:15122588|PMID:15146471|PMID:15173226|PMID:15235029|PMID:15705881|PMID:15761864|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16234564|PMID:16354195|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17218939|PMID:17255954|PMID:17370310|PMID:17397031|PMID:17713569|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18981015|PMID:18983535|PMID:19141585|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19799798|PMID:20093296|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22636603|PMID:22703879|PMID:22841127|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:25064638|PMID:25078331|PMID:25186627|PMID:25227142|PMID:25318351|PMID:25356972|PMID:25372287|PMID:25479140|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25846456|PMID:25980754|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26845104|PMID:26876133|PMID:26976419|PMID:27181379|PMID:27473757|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27960642|PMID:27978560|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28410231|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29360161|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29684080|PMID:29758216|PMID:29774366|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30291219|PMID:30339520|PMID:30548481|PMID:30967399|PMID:31567591|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33322357|PMID:33823155|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595411|PMID:8603820|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8727306|PMID:8755727|PMID:8841025|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9133447|PMID:9166859|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms IDA D RGD:1298567|PMID:11872642 20070327 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms IDA D RGD:7248761|PMID:19409458 20130816 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005172 Lung Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:12115568|PMID:18337602|PMID:20135361 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:8552689|PMID:20681787 20140425 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:10322 D RGD:2289674|PMID:18060046 20080206 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:2289673|PMID:18192968 20080218 RGD associated with Papillomavirus Infections;protein:increased expression:vulva 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005804 Vulvar Neoplasms ISO RGD:737039 D RGD:2289682|PMID:16998595 20080206 RGD protein:increased expression:vulva 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms IAGP D RGD:1578522|PMID:16527513 20130816 RGD DNA:loss of heterozygosity 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms IAGP D RGD:1600814|PMID:17091472 20070327 RGD DNA:point mutations, missense mutation:exon 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9005873 Tongue Neoplasms severity IEP D RGD:11252155|PMID:18804414 20160627 RGD protein:decreased expression:tongue 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737039 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007150 Urogenital Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007188 Liver Neoplasms ISO RGD:737039 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16317707|PMID:27064257|PMID:33010264 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007364 Mouth Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007502 Brain Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:15144691|PMID:16860786 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007702 Carcinogenesis ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737039 D RGD:2289683|PMID:16837908 20080206 RGD protein:increased expression:endometrium 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9007973 Genetic Translocation ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21325069|PMID:21526190 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:737039 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:25741868|PMID:26619011|PMID:28492532 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008165 Chromosome Deletion ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:21526190 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:737039 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:737039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9536098|PMID:9751050|PMID:9823374 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:20948315 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms ISO RGD:737039 D RGD:2289690|PMID:8686738 20080207 RGD protein:decreased expression:breast 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:2289688|PMID:15879498 20080207 RGD DNA:missense mutation: :p.A148T 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:737039 D RGD:8552384|PMID:23712779 20140422 RGD DNA:hypermethylation:promoter 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9119 acute myeloid leukemia ISO RGD:737039 D RGD:11252080|PMID:11697625 20160623 RGD mRNA,protein:altered expression:bone marrow: 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737039 D RGD:11251749|PMID:11064355 20160621 RGD DNA:deletion: : 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9538 multiple myeloma ISO RGD:737039 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:16008847 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9538 multiple myeloma disease_progression ISO RGD:737039 D RGD:11252185|PMID:12681979 20160628 RGD DNA:hypermethylation:: 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737039 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:20453839 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:11251764|PMID:10090949 20160622 RGD DNA:deletion: : 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:737039 D RGD:11252082|PMID:25675863 20160623 RGD 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:737039 D RGD:11252081|PMID:9204978 20160623 RGD DNA:deletion: : 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737039 D RGD:11057958|PMID:26104880 20160623 RGD DNA:missense mutations:cds: 2323 Cdkn2a cyclin-dependent kinase inhibitor 2A gene DOID:9970 obesity IEP D RGD:8552660|PMID:22194422 20140423 RGD 2323012 Srrm5 serine/arginine repetitive matrix 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:2801093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 2323012 Srrm5 serine/arginine repetitive matrix 5 gene DOID:5419 schizophrenia ISO RGD:2801093 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2323012 Srrm5 serine/arginine repetitive matrix 5 gene DOID:630 genetic disease ISO RGD:2801093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323067 Igh-6-ps1 immunoglobulin heavy chain 6, pseudogene 1 gene DOID:0080600 COVID-19 ISO RGD:1347322 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2323068 Cd164l2 CD164 molecule like 2 gene DOID:630 genetic disease ISO RGD:1603478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323078 Zfp560 zinc finger protein 560 gene DOID:12849 autistic disorder ISO RGD:1342983 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323078 Zfp560 zinc finger protein 560 gene DOID:630 genetic disease ISO RGD:1342983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323100 Zfp267 zinc finger protein 267 gene DOID:2377 multiple sclerosis ISO RGD:1343571 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 2323100 Zfp267 zinc finger protein 267 gene DOID:37 skin disease ISO RGD:1343571 D RGD:11554173 20200220 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2323100 Zfp267 zinc finger protein 267 gene DOID:630 genetic disease ISO RGD:1343571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323100 Zfp267 zinc finger protein 267 gene DOID:9007964 Arsenic Poisoning ISO RGD:1343571 D RGD:11554173 20200220 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2323116 Map1lc3b2 microtubule-associated protein 1 light chain 3 beta 2 gene DOID:630 genetic disease ISO RGD:2301276 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323126 Lnp1 leukemia NUP98 fusion partner 1 gene DOID:630 genetic disease ISO RGD:2291790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323126 Lnp1 leukemia NUP98 fusion partner 1 gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:2291790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 2323171 Znf81L zinc finger protein 81 like gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349324 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 2323171 Znf81L zinc finger protein 81 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349324 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2323171 Znf81L zinc finger protein 81 like gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 2323171 Znf81L zinc finger protein 81 like gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2323171 Znf81L zinc finger protein 81 like gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2323171 Znf81L zinc finger protein 81 like gene DOID:0112028 non-syndromic X-linked intellectual disability 45 ISO RGD:1349324 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 45 PMID:10398246|PMID:15121780 2323171 Znf81L zinc finger protein 81 like gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 2323171 Znf81L zinc finger protein 81 like gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349324 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 2323171 Znf81L zinc finger protein 81 like gene DOID:12849 autistic disorder ISO RGD:1349324 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323171 Znf81L zinc finger protein 81 like gene DOID:630 genetic disease ISO RGD:1349324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868 2323175 Poteh POTE ankyrin domain family member H gene DOID:630 genetic disease ISO RGD:1346397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323176 Dthd1 death domain containing 1 gene DOID:630 genetic disease ISO RGD:3103432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2323176 Dthd1 death domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:3103432 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 2323176 Dthd1 death domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:3103432 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23105016|PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:0080422 Dravet syndrome ISO RGD:1606250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:1540 parathyroid carcinoma ISO RGD:1606250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:5408 Paget's disease of bone ISO RGD:1606250 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 2323182 Zfp687 zinc finger protein 687 gene DOID:5812 MHC class II deficiency ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:630 genetic disease ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2323182 Zfp687 zinc finger protein 687 gene DOID:9001120 Paget Disease of Bone 6 ISO RGD:1606250 D RGD:7240710 20190315 OMIM 2323182 Zfp687 zinc finger protein 687 gene DOID:9001120 Paget Disease of Bone 6 ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 6 PMID:15123951|PMID:22936311|PMID:25741868|PMID:26849110|PMID:28492532|PMID:29493781 2323182 Zfp687 zinc finger protein 687 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606250 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2323193 Nxpe2 neurexophilin and PC-esterase domain family, member 2 gene DOID:1059 intellectual disability ISO RGD:1349773 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2323193 Nxpe2 neurexophilin and PC-esterase domain family, member 2 gene DOID:630 genetic disease ISO RGD:1349773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323193 Nxpe2 neurexophilin and PC-esterase domain family, member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349773 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2323193 Nxpe2 neurexophilin and PC-esterase domain family, member 2 gene DOID:9007661 Dwarfism ISO RGD:1349773 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2323202 Lrriq4 leucine-rich repeats and IQ motif containing 4 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:2293898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 2323202 Lrriq4 leucine-rich repeats and IQ motif containing 4 gene DOID:1062 Fanconi syndrome ISO RGD:2293898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 2323202 Lrriq4 leucine-rich repeats and IQ motif containing 4 gene DOID:630 genetic disease ISO RGD:2293898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1319685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:11100036|PMID:18323416 20160614 RGD DNA:missense mutations:exons:multiple (human) 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25049379|PMID:26192916 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1319685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:25741868 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:7240710 20140903 OMIM 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:16199547|PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:23374270|PMID:23561803|PMID:24033266|PMID:24728327|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26289640|PMID:26861442|PMID:28492532|PMID:28824638|PMID:28826773|PMID:29472930|PMID:30170123|PMID:30894704|PMID:30940614|PMID:33202260|PMID:33859323|PMID:34573280|PMID:9536098 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:7240710 20190315 OMIM 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA | ClinVar Annotator: match by term: Immunodeficiency 11b with atopic dermatitis PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28628108|PMID:28826773|PMID:33202260|PMID:9536098 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:2841 asthma ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asthma PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:2841 asthma susceptibility ISO RGD:1319686 D RGD:11100037|PMID:16751370 20160614 RGD 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:3310 atopic dermatitis ISO RGD:1319685 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:23042114|PMID:28628108 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1319685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319685 D RGD:11100039|PMID:25384343 20160614 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:630 genetic disease ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:8541 Sezary's disease ISO RGD:1319685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:9000756 Persistent Polyclonal B-Cell Lymphocytosis ISO RGD:1319685 D RGD:11100033|PMID:23129749 20160614 RGD DNA:missense mutations:cds:p.E127G, p.G116S (human) 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:9002720 Splenomegaly ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:7240710 20171011 OMIM 2323211 Card11 caspase recruitment domain family, member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:24033266|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930|PMID:30940614|PMID:9536098 2323233 Cystm1 cysteine-rich transmembrane module containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603605 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 2323233 Cystm1 cysteine-rich transmembrane module containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2323233 Cystm1 cysteine-rich transmembrane module containing 1 gene DOID:630 genetic disease ISO RGD:1603605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323233 Cystm1 cysteine-rich transmembrane module containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2323233 Cystm1 cysteine-rich transmembrane module containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603605 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323233 Cystm1 cysteine-rich transmembrane module containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2323257 Krtap11-1 keratin associated protein 11-1 gene DOID:630 genetic disease ISO RGD:1350814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323264 Tmem91 transmembrane protein 91 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2323264 Tmem91 transmembrane protein 91 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2323264 Tmem91 transmembrane protein 91 gene DOID:2340 craniosynostosis ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2323264 Tmem91 transmembrane protein 91 gene DOID:630 genetic disease ISO RGD:1602234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323264 Tmem91 transmembrane protein 91 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2323264 Tmem91 transmembrane protein 91 gene DOID:9269 maple syrup urine disease ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2323270 Or7e177 olfactory receptor family 7 subfamily E member 177 gene DOID:12849 autistic disorder ISO RGD:1351971 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323270 Or7e177 olfactory receptor family 7 subfamily E member 177 gene DOID:630 genetic disease ISO RGD:1351971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2301113 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:2301113 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2301113 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2301113 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:630 genetic disease ISO RGD:2301113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2301113 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2323278 Hrct1 histidine rich carboxyl terminus 1 gene DOID:9870 galactosemia ISO RGD:2301113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 2323304 Rfpl4b ret finger protein-like 4B gene DOID:0060163 body dysmorphic disorder ISO RGD:1606355 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 2323304 Rfpl4b ret finger protein-like 4B gene DOID:630 genetic disease ISO RGD:1606355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323310 Fam104b family with sequence similarity 104 member B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353979 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2323310 Fam104b family with sequence similarity 104 member B gene DOID:12849 autistic disorder ISO RGD:1353979 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323310 Fam104b family with sequence similarity 104 member B gene DOID:630 genetic disease ISO RGD:1353979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323315 Krtap8-1 keratin associated protein 8-1 gene DOID:630 genetic disease ISO RGD:1354331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323318 Tmem167a transmembrane protein 167A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603559 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1602124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 PMID:25741868 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1602124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:25741868 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602124 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602124 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29322246|PMID:31440728|PMID:31685013 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:7240710 20200930 OMIM 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder PMID:25741868|PMID:28492532|PMID:29322246|PMID:31110234|PMID:31440728|PMID:31685013|PMID:32546566|PMID:34345025 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602124 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323325 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1602124 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 2323360 Tmem74bos transmembrane 74B, opposite strand gene DOID:630 genetic disease ISO RGD:1602798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:1349829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1349829 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:1059 intellectual disability ISO RGD:1349829 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:10629 microphthalmia ISS RGD:1623320 D RGD:13592920 20180518 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:12849 autistic disorder ISO RGD:1349829 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:13938 amenorrhea ISO RGD:1349829 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:2187 amelogenesis imperfecta ISO RGD:1349829 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:630 genetic disease ISO RGD:1349829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349829 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323364 Arhgap6 Rho GTPase activating protein 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349829 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 2323365 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 2323365 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 2323365 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:3070 high grade glioma ISO RGD:1312494 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 2323365 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:607 paraplegia ISO RGD:1312494 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 2323365 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:630 genetic disease ISO RGD:1312494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323370 Btbd18 BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:2923345 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2323370 Btbd18 BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:2923345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323374 Igip IgA-inducing protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1604414 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 2323374 Igip IgA-inducing protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2323374 Igip IgA-inducing protein gene DOID:630 genetic disease ISO RGD:1604414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323374 Igip IgA-inducing protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604414 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323374 Igip IgA-inducing protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:7240710 20140312 OMIM 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:16199547|PMID:17576681|PMID:19415352|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29123918|PMID:32214227|PMID:9536098 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:10907 microcephaly ISO RGD:1322721 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:2476 hereditary spastic paraplegia ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:630 genetic disease ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9002801 Recurrence ISO RGD:1322721 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322721 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322721 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 2323387 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1322721 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 2323402 Lrcol1 leucine rich colipase-like 1 gene DOID:630 genetic disease ISO RGD:6770658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323402 Lrcol1 leucine rich colipase-like 1 gene DOID:9256 colorectal cancer ISO RGD:6770658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 2323412 C2h1orf162 similar to human chromosome 1 open reading frame 162 gene DOID:0080600 COVID-19 ISO RGD:1604535 D RGD:9068941 20210319 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2323412 C2h1orf162 similar to human chromosome 1 open reading frame 162 gene DOID:630 genetic disease ISO RGD:1604535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1602406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387996 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0050545 visceral heterotaxy ISS RGD:1619616 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:1602406 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1602406 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:1602406 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:7240710 20130731 OMIM 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:10745040|PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:34401452 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0110936 nemaline myopathy 5 ISO RGD:1602406 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1602406 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1602406 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:3191 nemaline myopathy ISO RGD:1602406 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1602406 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1602406 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:630 genetic disease ISO RGD:1602406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2323487 Dnaaf3 dynein, axonemal, assembly factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10745040|PMID:16199547|PMID:17576681|PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31772028|PMID:31879361|PMID:34401452|PMID:9536098 2323488 LOC100359752 hypothetical protein LOC100359752 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:5132403 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 2323488 LOC100359752 hypothetical protein LOC100359752 gene DOID:630 genetic disease ISO RGD:5132403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323488 LOC100359752 hypothetical protein LOC100359752 gene DOID:6420 pulmonary valve stenosis ISO RGD:5132403 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 2323488 LOC100359752 hypothetical protein LOC100359752 gene DOID:8445 intestinal volvulus ISO RGD:5132403 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 2323488 LOC100359752 hypothetical protein LOC100359752 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132403 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323488 LOC100359752 hypothetical protein LOC100359752 gene DOID:9008419 Volvulus Of Midgut ISO RGD:5132403 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 2323520 Ankrd31 ankyrin repeat domain 31 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1354086 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 2323520 Ankrd31 ankyrin repeat domain 31 gene DOID:2843 long QT syndrome ISO RGD:1354086 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 2323520 Ankrd31 ankyrin repeat domain 31 gene DOID:3323 Sandhoff disease ISO RGD:1354086 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 2323520 Ankrd31 ankyrin repeat domain 31 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354086 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 2323520 Ankrd31 ankyrin repeat domain 31 gene DOID:630 genetic disease ISO RGD:1354086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2323520 Ankrd31 ankyrin repeat domain 31 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354086 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2323526 Phf6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:7240710 20130221 OMIM 2323526 Phf6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome PMID:12415272|PMID:13871358|PMID:15241480|PMID:15466013|PMID:15994862|PMID:18414213|PMID:23906836|PMID:24092917|PMID:24728327|PMID:25099957|PMID:25741868|PMID:25741869|PMID:26648834|PMID:27633282|PMID:28492532|PMID:28539120|PMID:28554332|PMID:30630810 2323526 Phf6 PHD finger protein 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354174 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2323526 Phf6 PHD finger protein 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1354174 D RGD:150524297|PMID:28675510 20220928 RGD mRNA:increased expression:colorectal mucosa (human) 2323526 Phf6 PHD finger protein 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:12415272|PMID:15994862|PMID:25741868|PMID:25741869|PMID:28492532 2323526 Phf6 PHD finger protein 6 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1354174 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 2323526 Phf6 PHD finger protein 6 gene DOID:1059 intellectual disability ISO RGD:1354174 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2323526 Phf6 PHD finger protein 6 gene DOID:12849 autistic disorder ISO RGD:1354174 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323526 Phf6 PHD finger protein 6 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1354174 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:20228800 2323526 Phf6 PHD finger protein 6 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1354174 D RGD:155630627|PMID:33779075 20221026 RGD DNA:mutations: : 2323526 Phf6 PHD finger protein 6 gene DOID:630 genetic disease ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12415272|PMID:18414213|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:30630810 2323526 Phf6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1354174 D RGD:155260288|PMID:31329335 20220926 RGD mRNA:increased expression:liver (human) 2323526 Phf6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354174 D RGD:155260308|PMID:30888215 20220929 RGD mRNA:increased expression:liver (human) 2323526 Phf6 PHD finger protein 6 gene DOID:769 neuroblastoma ISO RGD:1354174 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 2323526 Phf6 PHD finger protein 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354174 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 2323526 Phf6 PHD finger protein 6 gene DOID:9004507 Hirsutism ISO RGD:1354174 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hirsutism 2323526 Phf6 PHD finger protein 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1354174 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 2323526 Phf6 PHD finger protein 6 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1354174 D RGD:155260286|PMID:31186809 20220926 RGD DNA:mutations:multiple (human) 2323536 Msmp microseminoprotein, prostate associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2304156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:0080942 anauxetic dysplasia ISO RGD:2304156 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:2304156 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2304156 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:630 genetic disease ISO RGD:2304156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323536 Msmp microseminoprotein, prostate associated gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:2304156 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2323536 Msmp microseminoprotein, prostate associated gene DOID:9870 galactosemia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 2323544 Zfp791 zinc finger protein 791 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2323544 Zfp791 zinc finger protein 791 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2323544 Zfp791 zinc finger protein 791 gene DOID:0111254 glutaric acidemia I ISO RGD:1605566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2323544 Zfp791 zinc finger protein 791 gene DOID:3413 alpha-mannosidosis ISO RGD:1605566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2323544 Zfp791 zinc finger protein 791 gene DOID:630 genetic disease ISO RGD:1605566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323555 Krtap13-1 keratin associated protein 13-1 gene DOID:630 genetic disease ISO RGD:1343187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348628 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1348628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2323583 Rps21-ps1 ribosomal protein S21, pseudogene 1 gene DOID:9000918 Disease Progression ISO RGD:1348628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2323590 Peg3 paternally expressed 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1322359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 2323590 Peg3 paternally expressed 3 gene DOID:630 genetic disease ISO RGD:1322359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323590 Peg3 paternally expressed 3 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1322359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:0050545 visceral heterotaxy ISS RGD:1613911 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:0050778 Meckel syndrome ISS RGD:1613911 D RGD:13592920 20180518 MouseDO 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:10907 microcephaly ISO RGD:1345789 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:14679 VACTERL association ISS RGD:1613911 D RGD:13592920 20180518 MouseDO OMIM:192350 | OMIM:276950 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:1826 epilepsy ISO RGD:1345789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:1935 Bardet-Biedl syndrome ISS RGD:1613911 D RGD:13592920 20180518 MouseDO 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:630 genetic disease ISO RGD:1345789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2323599 Tbc1d32 TBC1 domain family, member 32 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:28492532 2323602 Palm3 paralemmin 3 gene DOID:630 genetic disease ISO RGD:2803038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323632 Mroh6 maestro heat-like repeat family member 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 2323632 Mroh6 maestro heat-like repeat family member 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 2323632 Mroh6 maestro heat-like repeat family member 6 gene DOID:1059 intellectual disability ISO RGD:1603139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 2323632 Mroh6 maestro heat-like repeat family member 6 gene DOID:4621 holoprosencephaly ISO RGD:1603139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 2323632 Mroh6 maestro heat-like repeat family member 6 gene DOID:630 genetic disease ISO RGD:1603139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323636 Fam177a1 family with sequence similarity 177, member A1 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:30308104 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 2323636 Fam177a1 family with sequence similarity 177, member A1 gene DOID:630 genetic disease ISO RGD:30308104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323636 Fam177a1 family with sequence similarity 177, member A1 gene DOID:9003816 Macrocephaly ISO RGD:30308104 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25558065 2323636 Fam177a1 family with sequence similarity 177, member A1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:30308104 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2323648 Hmgn2-ps3 high mobility group nucleosomal binding domain 2, pseudogene 3 gene DOID:630 genetic disease ISO RGD:1344098 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323665 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350569 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 2323665 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1350569 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 2323665 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19401682 2323665 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350569 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2323665 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:5419 schizophrenia ISO RGD:1350569 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2323665 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1350569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323682 Vti1b vesicle transport through interaction with t-SNAREs 1B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1352901 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 2323682 Vti1b vesicle transport through interaction with t-SNAREs 1B gene DOID:630 genetic disease ISO RGD:1352901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323753 Snx21 sorting nexin family member 21 gene DOID:2234 focal epilepsy ISO RGD:1322486 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2323753 Snx21 sorting nexin family member 21 gene DOID:630 genetic disease ISO RGD:1322486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323753 Snx21 sorting nexin family member 21 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 2323778 Zfp648 zinc finger protein 648 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 2323778 Zfp648 zinc finger protein 648 gene DOID:1540 parathyroid carcinoma ISO RGD:1606465 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2323778 Zfp648 zinc finger protein 648 gene DOID:630 genetic disease ISO RGD:1606465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323778 Zfp648 zinc finger protein 648 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606465 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 2323778 Zfp648 zinc finger protein 648 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606465 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2323781 Tmprss12 transmembrane serine protease 12 gene DOID:630 genetic disease ISO RGD:1606922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323784 Tex52 testis expressed 52 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:13208664 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25721401|PMID:25741868|PMID:28492532|PMID:30025539 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1603021 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:0111947 immunodeficiency 21 ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30025539|PMID:30831263|PMID:32746448 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:630 genetic disease ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326637|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30831263 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 2323785 Cfap92 cilia and flagella associated protein 92 gene DOID:9270 alkaptonuria ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 2323795 Rpl35a ribosomal protein L35A gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:11535069|PMID:18535205 20160920 RGD DNA:deletions, snps:multiple (human) 2323795 Rpl35a ribosomal protein L35A gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:11535072|PMID:22689679 20160920 RGD DNA:deletions, duplication:multiple (human) 2323795 Rpl35a ribosomal protein L35A gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:7240710 20150708 OMIM 2323795 Rpl35a ribosomal protein L35A gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 2323795 Rpl35a ribosomal protein L35A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532 2323795 Rpl35a ribosomal protein L35A gene DOID:3068 glioblastoma ISO RGD:733438 D RGD:11535077|PMID:10880769 20160920 RGD mRNA:increased expression:brain (human) 2323808 Ms4a18 membrane spanning 4-domains A18 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:3457221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2323808 Ms4a18 membrane spanning 4-domains A18 gene DOID:1059 intellectual disability ISO RGD:3457221 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2323809 Zfp628 zinc finger protein 628 gene DOID:630 genetic disease ISO RGD:1606755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323810 Cylc1 cylicin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348149 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2323810 Cylc1 cylicin 1 gene DOID:12849 autistic disorder ISO RGD:1348149 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323810 Cylc1 cylicin 1 gene DOID:630 genetic disease ISO RGD:1348149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323814 Hoatz HOATZ cilia and flagella associated protein gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 2323814 Hoatz HOATZ cilia and flagella associated protein gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1602158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 2323814 Hoatz HOATZ cilia and flagella associated protein gene DOID:1059 intellectual disability ISO RGD:1602158 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2323814 Hoatz HOATZ cilia and flagella associated protein gene DOID:12704 ataxia telangiectasia ISO RGD:1602158 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2323814 Hoatz HOATZ cilia and flagella associated protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602158 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2323814 Hoatz HOATZ cilia and flagella associated protein gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 2323815 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2323815 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2859136 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2323815 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2859136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323815 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2859136 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2323829 Zfp420 zinc finger protein 420 gene DOID:3007 breast ductal carcinoma ISO RGD:1349955 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 2323829 Zfp420 zinc finger protein 420 gene DOID:630 genetic disease ISO RGD:1349955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323855 Zfp683 zinc finger protein 683 gene DOID:0080600 COVID-19 ISO RGD:1601926 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 2323855 Zfp683 zinc finger protein 683 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601926 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 2323855 Zfp683 zinc finger protein 683 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 2323855 Zfp683 zinc finger protein 683 gene DOID:630 genetic disease ISO RGD:1601926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323855 Zfp683 zinc finger protein 683 gene DOID:9001341 Chloracne ISO RGD:1601926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2323888 Tex13a testis expressed 13A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352852 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2323888 Tex13a testis expressed 13A gene DOID:12849 autistic disorder ISO RGD:1352852 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323888 Tex13a testis expressed 13A gene DOID:630 genetic disease ISO RGD:1352852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323942 Poc1b POC1 centriolar protein B gene DOID:0050572 cone-rod dystrophy ISO RGD:1350683 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 2323942 Poc1b POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:7240710 20170301 OMIM 2323942 Poc1b POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 20 PMID:17576681|PMID:24945461|PMID:25018096|PMID:25044745|PMID:25741868|PMID:28492532|PMID:29220607|PMID:32244552|PMID:34065499|PMID:9536098 2323942 Poc1b POC1 centriolar protein B gene DOID:630 genetic disease ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2323942 Poc1b POC1 centriolar protein B gene DOID:8501 fundus dystrophy ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25018096|PMID:28492532|PMID:29220607 2323942 Poc1b POC1 centriolar protein B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350683 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 2323958 LOC100362820 Protein FAM186A-like gene DOID:630 genetic disease ISO RGD:2301117 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320604 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISS RGD:1622851 D RGD:13592920 20180518 MouseDO 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320604 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:7240710 20190315 OMIM 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:21680558|PMID:21681106|PMID:22872102|PMID:23332918|PMID:25205402|PMID:25741868|PMID:25741869|PMID:27075013|PMID:28492532|PMID:33562463 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320604 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0080600 COVID-19 ISO RGD:1320604 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:1059 intellectual disability ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:29758562 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:12849 autistic disorder ISO RGD:1320604 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:1826 epilepsy ISO RGD:1320604 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20502679 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320604 D RGD:8554872 20170404 ClinVar ClinVar Annotator: match by term: Pierre Robin-like syndrome 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320604 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:630 genetic disease ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:27075013|PMID:28191890|PMID:28492532|PMID:33562463 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9001153 FG Syndrome 4 ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FG syndrome 4 PMID:25741868|PMID:28492532 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320604 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532|PMID:33562463 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1320604 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1320604 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9008582 Developmental Disease ISO RGD:1320604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789 2323959 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320604 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 2323961 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351857 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 2323961 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1351857 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 2323961 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1351857 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 2323961 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:12849 autistic disorder ISO RGD:1351857 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2323961 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:5419 schizophrenia ISO RGD:1351857 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2323961 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:630 genetic disease ISO RGD:1351857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323964 LOC100362814 hypothetical protein LOC100362814 gene DOID:1059 intellectual disability ISO RGD:1604377 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2323964 LOC100362814 hypothetical protein LOC100362814 gene DOID:630 genetic disease ISO RGD:1604377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323973 Txndc5 thioredoxin domain containing 5 gene DOID:0080600 COVID-19 ISO RGD:1313292 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 2323973 Txndc5 thioredoxin domain containing 5 gene DOID:630 genetic disease ISO RGD:1313292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2323973 Txndc5 thioredoxin domain containing 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1313292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 2323973 Txndc5 thioredoxin domain containing 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 2323973 Txndc5 thioredoxin domain containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2323973 Txndc5 thioredoxin domain containing 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1313292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:11251750|PMID:20658957 20160621 RGD DNA:altered methylation: : 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17294728 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1348731 D RGD:11252195|PMID:23683424 20160628 RGD DNA:hypermethylation: : 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1348731 D RGD:11252169|PMID:17611569 20160627 RGD DNA:altered methylation:promoter: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0060058 lymphoma ISO RGD:1348731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1348731 D RGD:8552306|PMID:20118908 20140417 RGD DNA:deletion (human) 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:1348731 D RGD:11252187|PMID:12750706 20160628 RGD DNA:hyprmethylation:promoter: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1348731 D RGD:11252180|PMID:12750705 20160628 RGD DNA:altered methylation:5'UTR: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:731792 D RGD:11252167|PMID:14681685 20160627 RGD 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:10283 prostate cancer disease_progression ISO RGD:1348731 D RGD:2289684|PMID:16799475 20080207 RGD protein:increased expression:prostate gland 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:1037 lymphoid leukemia ISO RGD:731792 D RGD:11252194|PMID:10602427 20160628 RGD DNA:hypermethylation:promoter: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:1067 open-angle glaucoma disease_progression ISO RGD:1348731 D RGD:8548689|PMID:22840486 20140319 RGD DNA:SNP: :rs1063192 (human) 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer ISO RGD:1348731 D RGD:2289696|PMID:15590562 20080207 RGD DNA:deletion:urinary bladder 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:7248757|PMID:16624482 20130816 RGD DNA:deletion 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:1380 endometrial cancer IAGP D RGD:2316081|PMID:18558284 20100125 RGD DNA:deletion (rat) 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:1686 glaucoma ISO RGD:1348731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:1749 squamous cell carcinoma ISO RGD:1348731 D RGD:8548686|PMID:18564286 20140319 RGD protein:decreased expression:skin 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:2671 transitional cell carcinoma ISO RGD:1348731 D RGD:2289697|PMID:11720438 20080207 RGD mRNA:decreased expression:urinary bladder 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:2999 granulosa cell tumor ISO RGD:1348731 D RGD:2296066|PMID:12203782 20080627 RGD 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:3070 high grade glioma ISO RGD:1348731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:3393 coronary artery disease ISO RGD:1348731 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:23104008|PMID:34961328 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348731 D RGD:7248756|PMID:23361049 20130816 RGD DNA:SNPs: :rs615552, rs573687 (human) 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348731 D RGD:13673922|PMID:11445839 20180709 RGD DNA:hypermethylation:promoter 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:4450 renal cell carcinoma IAGP D RGD:7248758|PMID:10391689 20130816 RGD DNA:loss of heterozygosity, deletion 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:5419 schizophrenia ISO RGD:1348731 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:630 genetic disease ISO RGD:1348731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1348731 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:6846 familial melanoma ISO RGD:1348731 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532|PMID:9622062 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:8743 erythema infectiosum ISO RGD:1348731 D RGD:11252189|PMID:18384396 20160628 RGD associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1348731 D RGD:2289695|PMID:17632454 20080207 RGD protein:increased expression:uterine cervix 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9000046 Poisoning ISO RGD:1348731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9000528 Coronary Disease ISO RGD:1348731 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348731 D RGD:2296065|PMID:16000597 20080627 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, ovary 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348731 D RGD:2289695|PMID:17632454 20080207 RGD protein:increased expression:uterine cervix 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9003566 Mesothelioma IAGP D RGD:7248760|PMID:20065947 20130816 RGD DNA:deletion 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9005873 Tongue Neoplasms IAGP D RGD:1578522|PMID:16527513 20130816 RGD DNA:loss of heterozygosity 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9007188 Liver Neoplasms ISO RGD:1348731 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348731 D RGD:7248756|PMID:23361049 20130816 RGD DNA:SNPs: :rs615552, rs573687 (human) 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1348731 D RGD:11252196|PMID:9001419 20160628 RGD mRNA:decreased expression:granulocyte,monocyte: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:731792 D RGD:11252167|PMID:14681685 20160627 RGD 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:11251749|PMID:11064355 20160621 RGD DNA:deletion: : 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:11252161|PMID:15863205 20160627 RGD DNA:hypermethylation:promoter: 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1348731 D RGD:11251739|PMID:25616284 20160621 RGD DNA:hypermethylation: : 2324 Cdkn2b cyclin-dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1348731 D RGD:11252164|PMID:27168825 20160627 RGD DNA:hypermethylation:promoter: 2324094 Ddx55 DEAD-box helicase 55 gene DOID:630 genetic disease ISO RGD:1323439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604563 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604563 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604563 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604563 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604563 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:630 genetic disease ISO RGD:1604563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604563 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:7240710 20230201 OMIM 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus PMID:32555313|PMID:36047773 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604563 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2324110 Cfap74 cilia and flagella associated protein 74 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324129 Igfl3 IGF-like family member 3 gene DOID:630 genetic disease ISO RGD:1603833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0050562 West syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:18790821|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353625 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16015284|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:23064044|PMID:25741868|PMID:26467025|PMID:28492532 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25741868|PMID:26467025|PMID:28492532 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1353625 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:7240710 20180314 OMIM 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:10533068|PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16330482|PMID:16611748|PMID:16813600|PMID:17256798|PMID:17304053|PMID:17546640|PMID:17576681|PMID:17993579|PMID:18063413|PMID:18076117|PMID:18266744|PMID:18414213|PMID:18564362|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19396824|PMID:19428276|PMID:19471977|PMID:19564592|PMID:19740913|PMID:19763152|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20307669|PMID:20397747|PMID:20479760|PMID:20493745|PMID:20602487|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21765152|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22812903|PMID:22832775|PMID:22867051|PMID:22872100|PMID:22922712|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23184456|PMID:23236174|PMID:23238081|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23647072|PMID:23708187|PMID:23756444|PMID:23828526|PMID:23934111|PMID:24564546|PMID:24715584|PMID:25266480|PMID:25315662|PMID:25326635|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27823948|PMID:27824329|PMID:27848944|PMID:28074849|PMID:28386848|PMID:28492532|PMID:28837158|PMID:29095814|PMID:29100083|PMID:29186148|PMID:29190809|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29655203|PMID:29852413|PMID:30182498|PMID:30266825|PMID:30460546|PMID:30624022|PMID:30776697|PMID:30898514|PMID:30945278|PMID:30945684|PMID:31031587|PMID:31313283|PMID:31492455|PMID:31690835|PMID:31780880|PMID:31791873|PMID:33436160|PMID:33538404|PMID:34229227|PMID:9536098 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 severity ISO RGD:1353625 D RGD:12791015|PMID:22678952 20170227 RGD DNA:mutations:cds: 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1353625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1059 intellectual disability ISO RGD:1353625 D RGD:11053436|PMID:25315662 20170228 RGD DNA:duplication: : 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1059 intellectual disability ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18809835|PMID:19362436|PMID:19793311|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22872100|PMID:25657822|PMID:25741868|PMID:26271793|PMID:26482601|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:11832 visual epilepsy ISO RGD:1353625 D RGD:12791013|PMID:22264704 20170227 RGD DNA:deletion, missense, nonsense mutations:cds: 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1206 Rett syndrome ISO RGD:1353625 D RGD:11070543|PMID:23242510 20170227 RGD DNA:missense mutations:cds: 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1206 Rett syndrome ISO RGD:1353625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19241098 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1206 Rett syndrome ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16015284|PMID:18414213|PMID:19241098|PMID:19396824|PMID:25657822|PMID:27779742|PMID:28074849|PMID:28492532|PMID:30266825 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:12849 autistic disorder ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism PMID:15492925|PMID:20479760|PMID:21681106|PMID:28492532|PMID:29264392|PMID:30208311 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1826 epilepsy ISO RGD:1353625 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1826 epilepsy ISO RGD:1353625 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1932 Angelman syndrome ISO RGD:1353625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19241098 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:1932 Angelman syndrome ISO RGD:1353625 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:2234 focal epilepsy ISO RGD:1353625 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:630 genetic disease ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:16015284|PMID:18414213|PMID:18809835|PMID:19324861|PMID:19362436|PMID:19390641|PMID:19793311|PMID:20061330|PMID:20479760|PMID:20809529|PMID:21770923|PMID:21775177|PMID:22264704|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23151060|PMID:23288992|PMID:23583054|PMID:23708187|PMID:23756444|PMID:25657822|PMID:25741868|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27781031|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29100083|PMID:29264392|PMID:29851975|PMID:30182498|PMID:30460546|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:8465 retinoschisis ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:8501 fundus dystrophy ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1353625 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1353625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25657822|PMID:25741868|PMID:27770071 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19428276|PMID:19455595|PMID:19471977|PMID:19740913|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20493745|PMID:21160487|PMID:21293276|PMID:21318334|PMID:21765152|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22670143|PMID:22678952|PMID:22867051|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23238081|PMID:23583054|PMID:23934111|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546|PMID:31313283|PMID:31492455|PMID:31780880|PMID:33436160 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353625 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20397747|PMID:25741868|PMID:28492532 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1353625 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353625 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353625 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9006534 Nervous System Malformations ISO RGD:1353625 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 2324133 Cdkl5 cyclin-dependent kinase-like 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 2324148 Tiam2 TIAM Rac1 associated GEF 2 gene DOID:303 substance-related disorder ISO RGD:1345903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2324148 Tiam2 TIAM Rac1 associated GEF 2 gene DOID:630 genetic disease ISO RGD:1345903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324237 Smim24 small integral membrane protein 24 gene DOID:630 genetic disease ISO RGD:3380006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324237 Smim24 small integral membrane protein 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3380006 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324262 Fam47a family with sequence similarity 47, member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347430 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2324262 Fam47a family with sequence similarity 47, member A gene DOID:1059 intellectual disability ISO RGD:1347430 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2324262 Fam47a family with sequence similarity 47, member A gene DOID:12849 autistic disorder ISO RGD:1347430 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2324262 Fam47a family with sequence similarity 47, member A gene DOID:630 genetic disease ISO RGD:1347430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2324262 Fam47a family with sequence similarity 47, member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347430 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324262 Fam47a family with sequence similarity 47, member A gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347430 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 2324264 Trim60 tripartite motif containing 60 gene DOID:630 genetic disease ISO RGD:1350779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324280 Epc1 enhancer of polycomb homolog 1 gene DOID:630 genetic disease ISO RGD:1314407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324280 Epc1 enhancer of polycomb homolog 1 gene DOID:9002514 Neointima treatment ISO RGD:1314408 D RGD:9587795|PMID:22398275 20141020 RGD 2324282 Klhl33 kelch-like family member 33 gene DOID:630 genetic disease ISO RGD:1642111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324318 Rps4x ribosomal protein S4, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353859 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2324318 Rps4x ribosomal protein S4, X-linked gene DOID:12849 autistic disorder ISO RGD:1353859 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2324318 Rps4x ribosomal protein S4, X-linked gene DOID:630 genetic disease ISO RGD:1353859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324318 Rps4x ribosomal protein S4, X-linked gene DOID:9008939 Breast Neoplasms ISO RGD:1353859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804550 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0050834 CHARGE syndrome ISO RGD:1350607 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:29300383 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1350607 D RGD:150521713|PMID:31660637 20211116 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0050873 follicular lymphoma ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060041 autism spectrum disorder ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060058 lymphoma ISO RGD:1350607 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Lymphoma 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711175 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:155582217|PMID:26300940 20221013 RGD DNA:mutations:cds: 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome PMID:12482968|PMID:14608645|PMID:14699623|PMID:16199547|PMID:16603732|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:22126750|PMID:22304445|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24311525|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26898171|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27568880|PMID:27573763|PMID:27620904|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884889|PMID:28884922|PMID:28973083|PMID:29168297|PMID:29255178|PMID:29304373|PMID:29321794|PMID:29450879|PMID:29453417|PMID:29536651|PMID:29725259|PMID:29846842|PMID:29907798|PMID:30107592|PMID:30143558|PMID:30459467|PMID:30578106|PMID:3067577|PMID:30950893|PMID:31363182|PMID:31624253|PMID:31654559|PMID:31727177|PMID:31883305|PMID:31935506|PMID:31949313|PMID:31981491|PMID:32037394|PMID:32124548|PMID:32135276|PMID:32170002|PMID:32441320|PMID:32803813|PMID:33084842|PMID:33794347|PMID:36672956|PMID:3913813|PMID:9285441|PMID:9536098 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:9588235|PMID:24633898 20141022 RGD DNA:mutations:multiple (human) 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1350607 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1350607 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0080205 CAKUT ISO RGD:1350607 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2324324 Kmt2d lysine methyltransferase 2D gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1350607 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 2324324 Kmt2d lysine methyltransferase 2D gene DOID:10283 prostate cancer ISO RGD:1350607 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 2324324 Kmt2d lysine methyltransferase 2D gene DOID:10534 stomach cancer disease_progression ISO RGD:1350607 D RGD:150521710|PMID:30177394 20211116 RGD protein:increased expression:stomach 2324324 Kmt2d lysine methyltransferase 2D gene DOID:1059 intellectual disability ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31846209 2324324 Kmt2d lysine methyltransferase 2D gene DOID:10907 microcephaly ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21671394|PMID:22126750|PMID:25741868|PMID:28492532|PMID:30107592 2324324 Kmt2d lysine methyltransferase 2D gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1350607 D RGD:155582216|PMID:30121816 20221013 RGD DNA:SNP: :rs3782356(human) 2324324 Kmt2d lysine methyltransferase 2D gene DOID:11054 urinary bladder cancer ISO RGD:1350607 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 2324324 Kmt2d lysine methyltransferase 2D gene DOID:11832 visual epilepsy ISO RGD:1350607 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:12336 male infertility ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19348672 2324324 Kmt2d lysine methyltransferase 2D gene DOID:1324 lung cancer ISO RGD:1350607 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:1520 colon carcinoma ISO RGD:1350607 D RGD:150523761|PMID:20433758 20211118 RGD protein:increased expression:colon 2324324 Kmt2d lysine methyltransferase 2D gene DOID:1612 breast cancer ISO RGD:1350607 D RGD:9588236|PMID:23754336 20141022 RGD mRNA:decreased expression:breast (human) 2324324 Kmt2d lysine methyltransferase 2D gene DOID:1826 epilepsy ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 2324324 Kmt2d lysine methyltransferase 2D gene DOID:2785 Dandy-Walker syndrome ISO RGD:1350607 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3070 high grade glioma ISO RGD:1350607 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3459 breast carcinoma ISO RGD:1350607 D RGD:150523761|PMID:20433758 20211118 RGD protein:increased expression:cytoplasm, breast 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3565 meningioma disease_progression ISO RGD:1350607 D RGD:155582218|PMID:26240495 20221013 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3717 gastric adenocarcinoma ISO RGD:1350607 D RGD:150521710|PMID:30177394 20211116 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:150521712|PMID:29532228 20211116 RGD mRNA:increased expression:esophagus 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9588233|PMID:25151357 20141022 RGD DNA:mutations:multiple (human) 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350607 D RGD:150523770|PMID:24323028 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1350607 D RGD:150523776|PMID:28177435 20211119 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1350607 D RGD:150523777|PMID:30885352 20211119 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350607 D RGD:150523769|PMID:25112956 20211118 RGD DNA, protein:missense mutations, nonsense mutations, frameshift mutation, increased expression:lung 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350607 D RGD:150523767|PMID:29627316 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350607 D RGD:150523771|PMID:33665490 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1350607 D RGD:150523759|PMID:32024448 20211118 RGD associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation 2324324 Kmt2d lysine methyltransferase 2D gene DOID:4435 cavernous sinus meningioma ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:21671394|PMID:22126750|PMID:28492532 2324324 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:127285383|PMID:29748005 20211119 RGD DNA:missense mutations, insertion/deletion:plasma 2324324 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:150523766|PMID:28007623 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:150523767|PMID:29627316 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1350607 D RGD:150523768|PMID:27873319 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:630 genetic disease ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11526114|PMID:11573085|PMID:12482968|PMID:14608645|PMID:14699623|PMID:15161914|PMID:16199547|PMID:16603732|PMID:18414213|PMID:19625956|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22048023|PMID:22126750|PMID:22304445|PMID:22434255|PMID:23045699|PMID:23320472|PMID:23913813|PMID:24550110|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26320581|PMID:26467025|PMID:26898171|PMID:26938784|PMID:27302555|PMID:27411375|PMID:27568880|PMID:27573763|PMID:27618451|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:29089047|PMID:29453417|PMID:29536651|PMID:30107592|PMID:30459467|PMID:3067577|PMID:31727177|PMID:31846209|PMID:31883305|PMID:32135276|PMID:32803813|PMID:34232366|PMID:9285441 2324324 Kmt2d lysine methyltransferase 2D gene DOID:8541 Sezary's disease ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350607 D RGD:150521710|PMID:30177394 20211116 RGD associated with stomach cancer 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350607 D RGD:155582219|PMID:27875625 20221013 RGD associated with colorectal cancer;DNA:mutations:: 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:7240710 20191225 OMIM 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21766738|PMID:22126750|PMID:22434255|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24633898|PMID:24728327|PMID:24739679|PMID:24759409|PMID:25142838|PMID:25281733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27573763|PMID:27620904|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884922|PMID:28973083|PMID:29089047|PMID:29168297|PMID:29255178|PMID:29300383|PMID:29304373|PMID:29389947|PMID:29450879|PMID:29453417|PMID:30107592|PMID:30143558|PMID:30459467|PMID:30950893|PMID:31282990|PMID:31395954|PMID:31624253|PMID:31727177|PMID:31846209|PMID:31883305|PMID:31949313|PMID:32037394|PMID:32083401|PMID:32135276|PMID:32803813|PMID:36672956|PMID:3913813|PMID:9536098 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350607 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1350607 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:28492532|PMID:30578106 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9004240 Phyllodes Tumor ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350607 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1350607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1350607 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9006086 Intervertebral Disc Displacement severity ISO RGD:1350607 D RGD:155598599|PMID:32599142 20221018 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1350607 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9006534 Nervous System Malformations ISO RGD:1350607 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1350607 D RGD:155582215|PMID:26764138 20221013 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:7240710 20230505 OMIM 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome PMID:12002153|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31949313|PMID:32083401 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9008939 Breast Neoplasms ISO RGD:1350607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 2324324 Kmt2d lysine methyltransferase 2D gene DOID:903 gastrointestinal lymphoma disease_progression ISO RGD:1350607 D RGD:11553660|PMID:26722499 20211118 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319223 D RGD:9588237|PMID:23826075 20141022 RGD 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9538 multiple myeloma ISO RGD:1350607 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:25326635|PMID:25741868 2324324 Kmt2d lysine methyltransferase 2D gene DOID:9574 choanal atresia ISO RGD:1350607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Choanal atresia PMID:25741868|PMID:31395954 2324352 Akain1 A-kinase anchor inhibitor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:5131749 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 2324352 Akain1 A-kinase anchor inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:5131749 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2324352 Akain1 A-kinase anchor inhibitor 1 gene DOID:630 genetic disease ISO RGD:5131749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324431 Prdm16 PR/SET domain 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324431 Prdm16 PR/SET domain 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353101 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2324431 Prdm16 PR/SET domain 16 gene DOID:0060480 left ventricular noncompaction ISS RGD:1620785 D RGD:13592920 20220804 MouseDO OMIM:604169 2324431 Prdm16 PR/SET domain 16 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1353101 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 2324431 Prdm16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:7240710 20140911 OMIM 2324431 Prdm16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:16199547|PMID:17576681|PMID:23768516|PMID:24033266|PMID:24140581|PMID:25640679|PMID:25741868|PMID:26350513|PMID:27535533|PMID:28492532|PMID:28798025|PMID:29367541|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31648988|PMID:31983221|PMID:32041989|PMID:32233023|PMID:32746448|PMID:32880476|PMID:33500567|PMID:34540771|PMID:9536098 2324431 Prdm16 PR/SET domain 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324431 Prdm16 PR/SET domain 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324431 Prdm16 PR/SET domain 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324431 Prdm16 PR/SET domain 16 gene DOID:10907 microcephaly ISO RGD:1353101 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 2324431 Prdm16 PR/SET domain 16 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353101 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532 2324431 Prdm16 PR/SET domain 16 gene DOID:3393 coronary artery disease ISO RGD:1353101 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 2324431 Prdm16 PR/SET domain 16 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 2324431 Prdm16 PR/SET domain 16 gene DOID:397 restrictive cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 2324431 Prdm16 PR/SET domain 16 gene DOID:630 genetic disease ISO RGD:1353101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:32746448 2324431 Prdm16 PR/SET domain 16 gene DOID:6364 migraine ISO RGD:1353101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 2324431 Prdm16 PR/SET domain 16 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1353101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23768516|PMID:25741868|PMID:31333075|PMID:31568572|PMID:34540771 2324431 Prdm16 PR/SET domain 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353101 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324431 Prdm16 PR/SET domain 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2324438 Ube2e1 ubiquitin-conjugating enzyme E2E 1 gene DOID:37 skin disease ISO RGD:1354241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2324438 Ube2e1 ubiquitin-conjugating enzyme E2E 1 gene DOID:630 genetic disease ISO RGD:1354241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324438 Ube2e1 ubiquitin-conjugating enzyme E2E 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2324438 Ube2e1 ubiquitin-conjugating enzyme E2E 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2324467 Izumo3 IZUMO family member 3 gene DOID:5419 schizophrenia ISO RGD:1351856 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2324475 Spag11bl sperm associated antigen 11b-like gene DOID:630 genetic disease ISO RGD:1604666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:12849 autistic disorder ISO RGD:1606418 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:1826 epilepsy ISO RGD:1606418 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:5419 schizophrenia ISO RGD:1606418 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:630 genetic disease ISO RGD:1606418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:8445 intestinal volvulus ISO RGD:1606418 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606418 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 2324483 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606418 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 2324488 Siglecl1 SIGLEC family like 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1602049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 2324488 Siglecl1 SIGLEC family like 1 gene DOID:630 genetic disease ISO RGD:1602049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324490 Pkd1l3 polycystin 1 like 3, transient receptor potential channel interacting gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1317476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2324490 Pkd1l3 polycystin 1 like 3, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1317476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia ISO RGD:1602667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA PMID:25741868|PMID:27523608|PMID:27559085|PMID:28492532|PMID:30796585|PMID:30804083|PMID:35170849|PMID:35587511 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia susceptibility ISO RGD:1602667 D RGD:7240710 20230517 OMIM 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:2712793|PMID:28492532 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:1059 intellectual disability ISO RGD:1602667 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:1156 chondrocalcinosis ISO RGD:1602667 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:630 genetic disease ISO RGD:1602667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602667 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 ISO RGD:1602667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection PMID:25741868|PMID:27559085|PMID:28492532|PMID:35587511 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 susceptibility ISO RGD:1602667 D RGD:7240710 20230517 OMIM 2324500 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:19449425|PMID:25741868|PMID:2712793|PMID:28492532 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316051 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316051 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316051 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9006205 Animal Disease Models ISO RGD:1316051 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 2324506 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1316051 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 2324507 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 2324507 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1313902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324507 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 2324507 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2324507 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1313902 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 2324507 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1313902 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 2324556 Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347749 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 2324556 Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2324556 Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1347749 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA PMID:28492532 2324556 Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:630 genetic disease ISO RGD:1347749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324556 Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347749 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324556 Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2324558 Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 gene DOID:630 genetic disease ISO RGD:1601990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324558 Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 gene DOID:6846 familial melanoma ISO RGD:1601990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 2324558 Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1601990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 2324567 Yy2 YY2 transcription factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354472 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2324567 Yy2 YY2 transcription factor gene DOID:12849 autistic disorder ISO RGD:1354472 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2324567 Yy2 YY2 transcription factor gene DOID:630 genetic disease ISO RGD:1354472 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324567 Yy2 YY2 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354472 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324572 Sprr4 small proline-rich protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2324572 Sprr4 small proline-rich protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2324572 Sprr4 small proline-rich protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2324572 Sprr4 small proline-rich protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1350265 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2324572 Sprr4 small proline-rich protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2324572 Sprr4 small proline-rich protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350265 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2324575 Krtap1-1 keratin associated protein 1-1 gene DOID:630 genetic disease ISO RGD:1347123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324594 Taf3 TATA-box binding protein associated factor 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323524 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 2324594 Taf3 TATA-box binding protein associated factor 3 gene DOID:630 genetic disease ISO RGD:1323524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324597 Nps neuropeptide S gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2291750 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 2324597 Nps neuropeptide S gene DOID:2030 anxiety disorder ISO RGD:2291750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19339610|PMID:21466221 2324597 Nps neuropeptide S gene DOID:2560 morphine dependence IDA D RGD:9831198|PMID:23684726 20150303 RGD 2324597 Nps neuropeptide S gene DOID:630 genetic disease ISO RGD:2291750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324597 Nps neuropeptide S gene DOID:9000499 Alcoholic Intoxication IDA D RGD:9831199|PMID:19860802 20150303 RGD 2324597 Nps neuropeptide S gene DOID:9002362 Hyperkinesis ISO RGD:2291750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 2324597 Nps neuropeptide S gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2291750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19339610|PMID:20974945|PMID:21466221 2324599 Cmc2 C-x(9)-C motif containing 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1601986 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 2324599 Cmc2 C-x(9)-C motif containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1601986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 2324600 Smim15 small integral membrane protein 15 gene DOID:630 genetic disease ISO RGD:2293892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324600 Smim15 small integral membrane protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293892 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2324631 DA.E3-(D4Wox49-D4Got136)/Rhd strain DOID:9002457 Experimental Arthritis susceptibility IAGP D RGD:2324629|PMID:20200546 20100506 RGD 2324712 Tmigd3 transmembrane and immunoglobulin domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:9590048 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2324712 Tmigd3 transmembrane and immunoglobulin domain containing 3 gene DOID:630 genetic disease ISO RGD:9590048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324744 Fam228b family with sequence similarity 228, member B gene DOID:4990 essential tremor ISO RGD:2305665 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 2324744 Fam228b family with sequence similarity 228, member B gene DOID:630 genetic disease ISO RGD:2305665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324745 Stab1 stabilin 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1321166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 2324745 Stab1 stabilin 1 gene DOID:630 genetic disease ISO RGD:1321166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324745 Stab1 stabilin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2324764 H2al3 H2A.L variant histone 3 gene DOID:12849 autistic disorder ISO RGD:14700715 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:0111940 immunodeficiency 42 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:3563711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:1540 parathyroid carcinoma ISO RGD:3563711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:5812 MHC class II deficiency ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:630 genetic disease ISO RGD:3563711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324777 C2cd4d C2 calcium-dependent domain containing 4D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3563711 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2324815 Acot11 acyl-CoA thioesterase 11 gene DOID:630 genetic disease ISO RGD:1317612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324824 Zfp11 zinc finger protein 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1354009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 2324824 Zfp11 zinc finger protein 11 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2324824 Zfp11 zinc finger protein 11 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2324824 Zfp11 zinc finger protein 11 gene DOID:2340 craniosynostosis ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2324824 Zfp11 zinc finger protein 11 gene DOID:630 genetic disease ISO RGD:1354009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2324824 Zfp11 zinc finger protein 11 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2324824 Zfp11 zinc finger protein 11 gene DOID:9269 maple syrup urine disease ISO RGD:1354009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2324824 Zfp11 zinc finger protein 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 2324836 Tas2r145 taste receptor, type 2, member 145 gene DOID:630 genetic disease ISO RGD:1344406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325 Cdkn2c cyclin-dependent kinase inhibitor 2C gene DOID:3948 adrenocortical carcinoma ISO RGD:1604405 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 2325 Cdkn2c cyclin-dependent kinase inhibitor 2C gene DOID:630 genetic disease ISO RGD:1604405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325 Cdkn2c cyclin-dependent kinase inhibitor 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1604405 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2325 Cdkn2c cyclin-dependent kinase inhibitor 2C gene DOID:9538 multiple myeloma ISO RGD:1604405 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 2325039 H2bc9 H2B clustered histone 9 gene DOID:630 genetic disease ISO RGD:1343164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325051 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:0080696 Winchester syndrome ISO RGD:1606279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome 2325051 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2325051 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325051 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:1606279 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Osteolysis, hereditary multicentric 2325053 Armcx4 armadillo repeat containing, X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347581 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325053 Armcx4 armadillo repeat containing, X-linked 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 2325053 Armcx4 armadillo repeat containing, X-linked 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 2325053 Armcx4 armadillo repeat containing, X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1347581 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325055 Alpp alkaline phosphatase, placental gene DOID:0060041 autism spectrum disorder ISO RGD:1314395 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2325055 Alpp alkaline phosphatase, placental gene DOID:0060476 Perlman syndrome ISO RGD:1314395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 2325055 Alpp alkaline phosphatase, placental gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 2325055 Alpp alkaline phosphatase, placental gene DOID:630 genetic disease ISO RGD:1314395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325067 Ankdd1b ankyrin repeat and death domain containing 1B gene DOID:3323 Sandhoff disease ISO RGD:2301773 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 2325067 Ankdd1b ankyrin repeat and death domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301773 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325146 MNS/NMco Milan normotensive strain strain DOID:9005396 Intimal Hyperplasia induces IAGP XCO:0000268 D RGD:39456133|PMID:10364562 20210713 RGD compared to SHR 2325336 Mir124-1 microRNA 124-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349266 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325337 Mir26a microRNA 26a gene DOID:0050451 Brugada syndrome ISO RGD:1347029 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 2325337 Mir26a microRNA 26a gene DOID:11394 adult respiratory distress syndrome EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325337 Mir26a microRNA 26a gene DOID:3021 acute kidney failure EXP D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325337 Mir26a microRNA 26a gene DOID:9001586 Experimental Liver Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325337 Mir26a microRNA 26a gene DOID:9002457 Experimental Arthritis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: therapeutic PMID:24423102 2325337 Mir26a microRNA 26a gene DOID:9002661 Diabetes Complications ISO RGD:1347029 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35554780 2325337 Mir26a microRNA 26a gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13792725|PMID:29978610 20180925 RGD 2325337 Mir26a microRNA 26a gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1347029 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 2325340 Mir105 microRNA 105 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2325340 Mir105 microRNA 105 gene DOID:12849 autistic disorder ISO RGD:1350334 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325340 Mir105 microRNA 105 gene DOID:9004994 Embryo Loss ISO RGD:2314082 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 2325341 Mir484 microRNA 484 gene DOID:0050453 lissencephaly ISO RGD:1604867 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive 2325341 Mir484 microRNA 484 gene DOID:0112235 lissencephaly 4 ISO RGD:1604867 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 2325341 Mir484 microRNA 484 gene DOID:12849 autistic disorder ISO RGD:1604867 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325341 Mir484 microRNA 484 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1604867 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325341 Mir484 microRNA 484 gene DOID:1790 malignant mesothelioma ISO RGD:1604867 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 2325341 Mir484 microRNA 484 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604867 D RGD:13703106|PMID:28982084 20180801 RGD mRNA:increased expression:lung 2325341 Mir484 microRNA 484 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1604867 D RGD:13703106|PMID:28982084 20180801 RGD mRNA:decreased expression:lung 2325341 Mir484 microRNA 484 gene DOID:5419 schizophrenia ISO RGD:1604867 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325341 Mir484 microRNA 484 gene DOID:6000 congestive heart failure ISO RGD:1604867 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325341 Mir484 microRNA 484 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604867 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325343 Mir487b microRNA 487b gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606044 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325343 Mir487b microRNA 487b gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606044 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325343 Mir487b microRNA 487b gene DOID:9002170 Experimental Neoplasms ISO RGD:1606044 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325343 Mir487b microRNA 487b gene DOID:9005172 Lung Neoplasms ISO RGD:1606044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325343 Mir487b microRNA 487b gene DOID:9007787 Carcinoid Tumor ISO RGD:1606044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325343 Mir487b microRNA 487b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606044 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325344 Mir377 microRNA 377 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1342565 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325344 Mir377 microRNA 377 gene DOID:13580 cholestasis ISO RGD:1342565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325344 Mir377 microRNA 377 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1342565 D RGD:13464321|PMID:27874949 20180103 RGD miRNA:decreased expression:lung 2325344 Mir377 microRNA 377 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1342565 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325344 Mir377 microRNA 377 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342565 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325345 Mir296 microRNA 296 gene DOID:10591 pre-eclampsia ISO RGD:1349952 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 2325345 Mir296 microRNA 296 gene DOID:10652 Alzheimer's disease ISO RGD:1349952 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 2325345 Mir296 microRNA 296 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325346 Mir195 microRNA 195 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343846 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2325346 Mir195 microRNA 195 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343846 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 2325346 Mir195 microRNA 195 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343846 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 2325346 Mir195 microRNA 195 gene DOID:10487 Hirschsprung's disease ISO RGD:1343846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 2325346 Mir195 microRNA 195 gene DOID:12177 common variable immunodeficiency ISO RGD:1343846 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2325346 Mir195 microRNA 195 gene DOID:1574 alcohol use disorder onset IEP D RGD:35673317|PMID:32135570 20200713 RGD 2325346 Mir195 microRNA 195 gene DOID:224 transient cerebral ischemia severity IMP D RGD:45073134|PMID:32272873 20210715 RGD 2325346 Mir195 microRNA 195 gene DOID:2729 dyskeratosis congenita ISO RGD:1343846 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2325346 Mir195 microRNA 195 gene DOID:3393 coronary artery disease ISO RGD:1343846 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:decreased expression:blood plasma (human) 2325346 Mir195 microRNA 195 gene DOID:6000 congestive heart failure ISO RGD:1343846 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325346 Mir195 microRNA 195 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042896|PMID:25607636 20191217 RGD miRNA:decreased expression:liver (human) 2325346 Mir195 microRNA 195 gene DOID:684 hepatocellular carcinoma severity IMP D RGD:15042896|PMID:25607636 20191217 RGD miRNA:decreased expression:liver (mouse) 2325346 Mir195 microRNA 195 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325346 Mir195 microRNA 195 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343846 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325347 Mir135a microRNA 135a gene DOID:9005968 Neuralgia ISO RGD:1607568 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 2325348 Mir101a microRNA 101a gene DOID:1059 intellectual disability ISO RGD:1345212 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 2325348 Mir101a microRNA 101a gene DOID:3770 pulmonary fibrosis ISO RGD:1345212 D RGD:11554173 20180515 CTD CTD Direct Evidence: therapeutic PMID:28726637 2325349 Mir24-2 microRNA 24-2 gene DOID:9008939 Breast Neoplasms ISO RGD:1344925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21463514 2325351 Mir140 microRNA 140 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2325351 Mir140 microRNA 140 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1353953 D RGD:7240710 20191030 OMIM 2325351 Mir140 microRNA 140 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1353953 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type PMID:30804514 2325351 Mir140 microRNA 140 gene DOID:14004 thoracic aortic aneurysm ameliorates ISO RGD:1353953 D RGD:329347832|PMID:32678444 20230503 RGD 2325351 Mir140 microRNA 140 gene DOID:1936 atherosclerosis ISO RGD:1353953 D RGD:329337370|PMID:32965005 20230428 RGD miRNA:increased expression:peripheral monocytes (human) 2325351 Mir140 microRNA 140 gene DOID:1936 atherosclerosis ISO RGD:1353953 D RGD:329347823|PMID:33495827 20230503 RGD miRNA:increased expression:artery (human) 2325351 Mir140 microRNA 140 gene DOID:1936 atherosclerosis ISO RGD:1608332 D RGD:329337368|PMID:30483753 20230428 RGD mRNA:increased expression:blood vessel (mouse) 2325351 Mir140 microRNA 140 gene DOID:2256 osteochondrodysplasia ISS RGD:1608332 D RGD:13592920 20200604 MouseDO 2325351 Mir140 microRNA 140 gene DOID:3021 acute kidney failure ISO RGD:1353953 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325351 Mir140 microRNA 140 gene DOID:3525 middle cerebral artery infarction IEP D RGD:329337377|PMID:27035554 20230429 RGD miRNA:decreased expression:cerebral cortex (rat) 2325351 Mir140 microRNA 140 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1608332 D RGD:329337375|PMID:33246036 20230428 RGD 2325351 Mir140 microRNA 140 gene DOID:3770 pulmonary fibrosis ISO RGD:1353953 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25926378|PMID:32462952 2325351 Mir140 microRNA 140 gene DOID:6000 congestive heart failure ISO RGD:1353953 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325351 Mir140 microRNA 140 gene DOID:9001820 Pulmonary Arterial Hypertension severity ISO RGD:1353953 D RGD:329337371|PMID:27214554 20230428 RGD miRNA:decreased expression:blood (human) 2325351 Mir140 microRNA 140 gene DOID:9002661 Diabetes Complications ISO RGD:1353953 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062618 2325351 Mir140 microRNA 140 gene DOID:9002676 Cerebral Hemorrhage ameliorates IMP D RGD:329337378|PMID:31376096 20230429 RGD 2325351 Mir140 microRNA 140 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1353953 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062618 2325351 Mir140 microRNA 140 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1608332 D RGD:329337372|PMID:35248684 20230428 RGD miRNA:increased expression:hippocampus (mouse) 2325351 Mir140 microRNA 140 gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1353953 D RGD:329347831|PMID:34331407 20230503 RGD miRNA:decreased expression:blood serum (human) 2325351 Mir140 microRNA 140 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1608332 D RGD:156430337|PMID:36044268 20230228 RGD 2325351 Mir140 microRNA 140 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1608332 D RGD:329347833|PMID:31078585 20230503 RGD 2325351 Mir140 microRNA 140 gene DOID:9007174 Ventricular Remodeling ameliorates IEP D RGD:329347824|PMID:28922712 20230503 RGD 2325351 Mir140 microRNA 140 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1608332 D RGD:329337374|PMID:31792649 20230428 RGD miRNA:increased expression:heart, endothelial cells (mouse) 2325351 Mir140 microRNA 140 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1608332 D RGD:329337366|PMID:30259997 20230428 RGD 2325351 Mir140 microRNA 140 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353953 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325352 Mir764 microRNA 764 gene DOID:12849 autistic disorder ISO RGD:3497329 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325352 Mir764 microRNA 764 gene DOID:5082 liver cirrhosis ISO RGD:3497329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325352 Mir764 microRNA 764 gene DOID:5419 schizophrenia ISO RGD:3497329 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325352 Mir764 microRNA 764 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3497329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325356 Mir873 microRNA 873 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:2290239 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:30654191 2325356 Mir873 microRNA 873 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:2290239 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:30654191 2325357 Mir708 microRNA 708 gene DOID:10652 Alzheimer's disease ISO RGD:2290222 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 2325357 Mir708 microRNA 708 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2290222 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325357 Mir708 microRNA 708 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2290222 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:34652879 2325358 Mir532 microRNA 532 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603132 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325358 Mir532 microRNA 532 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603132 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 2325358 Mir532 microRNA 532 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2325358 Mir532 microRNA 532 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603132 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2325358 Mir532 microRNA 532 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 2325358 Mir532 microRNA 532 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603132 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 2325358 Mir532 microRNA 532 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 2325358 Mir532 microRNA 532 gene DOID:11054 urinary bladder cancer ISO RGD:1603132 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 2325358 Mir532 microRNA 532 gene DOID:12849 autistic disorder ISO RGD:1603132 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325358 Mir532 microRNA 532 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1603132 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325358 Mir532 microRNA 532 gene DOID:2671 transitional cell carcinoma ISO RGD:1603132 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 2325358 Mir532 microRNA 532 gene DOID:4989 pancreatitis ISO RGD:1603132 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325358 Mir532 microRNA 532 gene DOID:6000 congestive heart failure ISO RGD:1603132 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325358 Mir532 microRNA 532 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325358 Mir532 microRNA 532 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1603132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325358 Mir532 microRNA 532 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603132 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 2325358 Mir532 microRNA 532 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603132 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325358 Mir532 microRNA 532 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325358 Mir532 microRNA 532 gene DOID:9008579 Dent Disease 1 ISO RGD:1603132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 2325358 Mir532 microRNA 532 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603132 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325359 Mir423 microRNA 423 gene DOID:10591 pre-eclampsia ISO RGD:1350017 D RGD:158014896|PMID:30587375 20230320 RGD miRNA:increased expression:plasma 2325359 Mir423 microRNA 423 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1350017 D RGD:158014897|PMID:31422516 20230320 RGD miRNA:decreased expression:serum 2325359 Mir423 microRNA 423 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1350017 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325359 Mir423 microRNA 423 gene DOID:3021 acute kidney failure disease_progression ISO RGD:1350017 D RGD:158014895|PMID:32984995 20230320 RGD miRNA:increased expression:serum, urine 2325359 Mir423 microRNA 423 gene DOID:3393 coronary artery disease ISO RGD:1350017 D RGD:158014893|PMID:30289085 20230320 RGD DNA:SNP: :rs6505162 (human) 2325359 Mir423 microRNA 423 gene DOID:3393 coronary artery disease disease_progression ISO RGD:1350017 D RGD:158014898|PMID:32404537 20230320 RGD miRNA:decreased expression:serum 2325359 Mir423 microRNA 423 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350017 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24205249 2325359 Mir423 microRNA 423 gene DOID:5844 myocardial infarction ISO RGD:1350017 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24253456 2325359 Mir423 microRNA 423 gene DOID:6000 congestive heart failure ISO RGD:1350017 D RGD:158014892|PMID:20185794 20230320 RGD miRNA:increased expression:plasma 2325359 Mir423 microRNA 423 gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:158014894|PMID:29137244 20230320 RGD 2325359 Mir423 microRNA 423 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350017 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325359 Mir423 microRNA 423 gene DOID:9009121 lung metastasis ISO RGD:1350017 D RGD:153344557|PMID:30326930 20220825 RGD human cells in mouse model 2325359 Mir423 microRNA 423 gene DOID:9256 colorectal cancer ISO RGD:1350017 D RGD:9068941 20220722 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325359 Mir423 microRNA 423 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350017 D RGD:153344557|PMID:30326930 20220825 RGD mRNA:decreased expression:nasopharynx (human) 2325359 Mir423 microRNA 423 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350017 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325360 Mir375 microRNA 375 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1345165 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 2325360 Mir375 microRNA 375 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2325360 Mir375 microRNA 375 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2325360 Mir375 microRNA 375 gene DOID:10534 stomach cancer ISO RGD:1345165 D RGD:126928128|PMID:24718681 20210527 RGD associated with Helicobacter Infections; protein:decreased expression:stomach (human) 2325360 Mir375 microRNA 375 gene DOID:10652 Alzheimer's disease ISO RGD:1345165 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 2325360 Mir375 microRNA 375 gene DOID:4033 bacterial gastritis ISO RGD:1345165 D RGD:126928128|PMID:24718681 20210527 RGD protein:decreased expression:stomach (human) 2325360 Mir375 microRNA 375 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1345165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2325360 Mir375 microRNA 375 gene DOID:4989 pancreatitis ISO RGD:1345165 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325360 Mir375 microRNA 375 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345165 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325360 Mir375 microRNA 375 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1345165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325360 Mir375 microRNA 375 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345165 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325361 Mir181d microRNA 181d gene DOID:4989 pancreatitis ISO RGD:1603765 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325361 Mir181d microRNA 181d gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325361 Mir181d microRNA 181d gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1603765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325364 Mir497 microRNA 497 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1603766 D RGD:126925181|PMID:31115562 20210513 RGD 2325364 Mir497 microRNA 497 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1603766 D RGD:126925181|PMID:31115562 20210513 RGD miRNA:decreased expression:lung 2325364 Mir497 microRNA 497 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1603766 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325364 Mir497 microRNA 497 gene DOID:657 adenoma ISO RGD:1603766 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325364 Mir497 microRNA 497 gene DOID:9002170 Experimental Neoplasms ISO RGD:1603766 D RGD:11554173 20220906 CTD CTD Direct Evidence: therapeutic PMID:35066776 2325364 Mir497 microRNA 497 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1603766 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 2325364 Mir497 microRNA 497 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1603766 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 2325364 Mir497 microRNA 497 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603766 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325364 Mir497 microRNA 497 gene DOID:9743 diabetic neuropathy ISO RGD:1603766 D RGD:11554173 20230404 CTD CTD Direct Evidence: therapeutic PMID:35478295 2325366 Mir409 microRNA 409 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325366 Mir409 microRNA 409 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603786 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325366 Mir409 microRNA 409 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603786 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325366 Mir409 microRNA 409 gene DOID:6000 congestive heart failure ISO RGD:1603786 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325366 Mir409 microRNA 409 gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1603786 D RGD:9068941 20200609 RGD PMID:23360331|REF_RGD_ID:10755694 2325366 Mir409 microRNA 409 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1603786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325366 Mir409 microRNA 409 gene DOID:9005172 Lung Neoplasms ISO RGD:1603786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325366 Mir409 microRNA 409 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325366 Mir409 microRNA 409 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603786 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325369 Mir370 microRNA 370 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1343857 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325369 Mir370 microRNA 370 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1343857 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325369 Mir370 microRNA 370 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325369 Mir370 microRNA 370 gene DOID:9002170 Experimental Neoplasms ISO RGD:1343857 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325369 Mir370 microRNA 370 gene DOID:9005172 Lung Neoplasms ISO RGD:1343857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325369 Mir370 microRNA 370 gene DOID:9007787 Carcinoid Tumor ISO RGD:1343857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325371 Mir365b microRNA 365b gene DOID:2043 hepatitis B ISO RGD:2290202 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325372 Mir448 microRNA 448 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605755 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325372 Mir448 microRNA 448 gene DOID:11476 osteoporosis ISO RGD:1605755 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 2325372 Mir448 microRNA 448 gene DOID:12849 autistic disorder ISO RGD:1605755 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325372 Mir448 microRNA 448 gene DOID:12858 Huntington's disease ISO RGD:1607607 D RGD:9068941 20200609 RGD up-regulated PMID:21035445|REF_RGD_ID:11041745 2325372 Mir448 microRNA 448 gene DOID:5419 schizophrenia ISO RGD:1605755 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325374 Mir290 microRNA 290 gene DOID:0060071 pre-malignant neoplasm EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325374 Mir290 microRNA 290 gene DOID:9001586 Experimental Liver Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325376 Mir212 microRNA 212 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325376 Mir212 microRNA 212 gene DOID:10652 Alzheimer's disease ISO RGD:1352239 D RGD:7327146|PMID:23585551 20230220 RGD RNA:decreased expression:brain 2325376 Mir212 microRNA 212 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1352239 D RGD:11054501|PMID:25965836 20220331 RGD 2325376 Mir212 microRNA 212 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352239 D RGD:11054501|PMID:25965836 20220331 RGD 2325376 Mir212 microRNA 212 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325376 Mir212 microRNA 212 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20613834|PMID:20711185 2325377 Mir205 microRNA 205 gene DOID:1324 lung cancer ISO RGD:1607684 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325377 Mir205 microRNA 205 gene DOID:1540 parathyroid carcinoma ISO RGD:1350430 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2325377 Mir205 microRNA 205 gene DOID:1749 squamous cell carcinoma ISO RGD:1350430 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21563230 2325377 Mir205 microRNA 205 gene DOID:2671 transitional cell carcinoma ISO RGD:1350430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25586904 2325377 Mir205 microRNA 205 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350430 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21563230 2325377 Mir205 microRNA 205 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 2325377 Mir205 microRNA 205 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325377 Mir205 microRNA 205 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325377 Mir205 microRNA 205 gene DOID:9008939 Breast Neoplasms ISO RGD:1350430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325377 Mir205 microRNA 205 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350430 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2325377 Mir205 microRNA 205 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350430 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325378 Mir199a2 microRNA 199a-2 gene DOID:1206 Rett syndrome ISS RGD:1608230 D RGD:13592920 20190912 MouseDO OMIM:312750 | OMIM:613454 2325378 Mir199a2 microRNA 199a-2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349796 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2325378 Mir199a2 microRNA 199a-2 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 2325378 Mir199a2 microRNA 199a-2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349796 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 2325378 Mir199a2 microRNA 199a-2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1349796 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 2325378 Mir199a2 microRNA 199a-2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349796 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2325380 Mir185 microRNA 185 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1347667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 2325380 Mir185 microRNA 185 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1347667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 2325380 Mir185 microRNA 185 gene DOID:11198 DiGeorge syndrome ISO RGD:1347667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 2325380 Mir185 microRNA 185 gene DOID:12583 velocardiofacial syndrome ISO RGD:1347667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 2325380 Mir185 microRNA 185 gene DOID:12849 autistic disorder ISO RGD:1347667 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325380 Mir185 microRNA 185 gene DOID:13580 cholestasis ISO RGD:1347667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325380 Mir185 microRNA 185 gene DOID:5419 schizophrenia ISO RGD:1347667 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325380 Mir185 microRNA 185 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325380 Mir185 microRNA 185 gene DOID:9007661 Dwarfism ISO RGD:1347667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 2325381 Mir181c microRNA 181c gene DOID:14330 Parkinson's disease ISO RGD:1350100 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28770951 2325381 Mir181c microRNA 181c gene DOID:1883 hepatitis C IEP D RGD:15042895|PMID:24789793 20191217 RGD miRNA:decreased expression:liver (human) 2325381 Mir181c microRNA 181c gene DOID:4989 pancreatitis ISO RGD:1350100 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325381 Mir181c microRNA 181c gene DOID:684 hepatocellular carcinoma IEP D RGD:15042894|PMID:31114379 20191217 RGD miRNA:decreased expression:liver (human) 2325381 Mir181c microRNA 181c gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325381 Mir181c microRNA 181c gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325381 Mir181c microRNA 181c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325381 Mir181c microRNA 181c gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325381 Mir181c microRNA 181c gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350100 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325382 Mir146a microRNA 146a gene DOID:0050433 fatal familial insomnia susceptibility ISO RGD:1344673 D RGD:126925194|PMID:29216791 20210514 RGD miRNA:SNP: (rs57095329) (human) 2325382 Mir146a microRNA 146a gene DOID:0081267 graft-versus-host disease ameliorates ISO RGD:1608327 D RGD:126925178|PMID:28853768 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:10534 stomach cancer ameliorates ISO RGD:1344673 D RGD:126925145|PMID:25081668 20210513 RGD associated with Helicobacter Infections;miRNA:increased expression:stomach (human) 2325382 Mir146a microRNA 146a gene DOID:10652 Alzheimer's disease ISO RGD:1344673 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:22099153|PMID:25992776 2325382 Mir146a microRNA 146a gene DOID:11573 listeriosis ISO RGD:1608327 D RGD:126925176|PMID:29728425 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:11573 listeriosis ameliorates ISO RGD:1608327 D RGD:126925140|PMID:29587465 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:11574 streptococcal meningitis IEP D RGD:126925169|PMID:26155141 20210513 RGD miRNA:decreased expression:brain (rat) 2325382 Mir146a microRNA 146a gene DOID:11729 Lyme disease exacerbates ISO RGD:1608327 D RGD:126925141|PMID:24967703 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:12205 dengue disease ISO RGD:1344673 D RGD:41404658|PMID:26941580 20210201 RGD RNA:decreased expression:serum: 2325382 Mir146a microRNA 146a gene DOID:1395 schistosomiasis disease_progression ISO RGD:1608327 D RGD:126925171|PMID:32443549 20210513 RGD miRNA:altered expression: blood serum (mouse) 2325382 Mir146a microRNA 146a gene DOID:1883 hepatitis C exacerbates ISO RGD:1344673 D RGD:126925170|PMID:28587864 20210513 RGD miRNA:increased expression:blood serum (human) 2325382 Mir146a microRNA 146a gene DOID:1936 atherosclerosis severity ISO RGD:1344673 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325382 Mir146a microRNA 146a gene DOID:2043 hepatitis B ameliorates ISO RGD:1608327 D RGD:126925163|PMID:27210312 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:3393 coronary artery disease ISO RGD:1344673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 2325382 Mir146a microRNA 146a gene DOID:3393 coronary artery disease ISO RGD:1344673 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325382 Mir146a microRNA 146a gene DOID:3393 coronary artery disease susceptibility ISO RGD:1344673 D RGD:329337364|PMID:26909569 20230428 RGD DNA:SNP: (rs2910164) (human) 2325382 Mir146a microRNA 146a gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1344673 D RGD:151665165|PMID:27494902 20220314 RGD 2325382 Mir146a microRNA 146a gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1344673 D RGD:151665165|PMID:27494902 20220314 RGD 2325382 Mir146a microRNA 146a gene DOID:4033 bacterial gastritis ISO RGD:1344673 D RGD:126925144|PMID:30535468 20210513 RGD associated with Helicobacter Infections;miRNA:increased expression:mucosa of stomach (human) 2325382 Mir146a microRNA 146a gene DOID:4784 immune-complex glomerulonephritis ISO RGD:1608327 D RGD:126925182|PMID:31666653 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:5082 liver cirrhosis ISO RGD:1344673 D RGD:126925149|PMID:25805734 20210513 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 2325382 Mir146a microRNA 146a gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1344673 D RGD:126925162|PMID:31086599 20210513 RGD associated with hepatitis B; miRNA:decreased expression: liver, peripheral blood mononuclear cell, blood serum (human) 2325382 Mir146a microRNA 146a gene DOID:5434 scrapie ISO RGD:1608327 D RGD:126925151|PMID:22363497 20210513 RGD miRNA:increased expression:brain, hippocampus, cerebellum (mouse) 2325382 Mir146a microRNA 146a gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1344673 D RGD:126925148|PMID:18711148 20210513 RGD associated with hepatitis B;miRNA:SNP:exon: (rs2910164) (human) 2325382 Mir146a microRNA 146a gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1344673 D RGD:126925158|PMID:24816919 20210513 RGD miRNA:SNP: (human) 2325382 Mir146a microRNA 146a gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1344673 D RGD:126925187|PMID:24615520 20210513 RGD associated with hepatitis B;miRNA:SNP: (human) 2325382 Mir146a microRNA 146a gene DOID:7148 rheumatoid arthritis ISO RGD:1344673 D RGD:152177908|PMID:31472145 20220519 RGD mRNA:decreased expression:cartilage tissue (human) 2325382 Mir146a microRNA 146a gene DOID:7148 rheumatoid arthritis ISO RGD:1344673 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:synovial (human) 2325382 Mir146a microRNA 146a gene DOID:8398 osteoarthritis ISO RGD:1344673 D RGD:152177908|PMID:31472145 20220519 RGD mRNA:decreased expression:cartilage tissue (human) 2325382 Mir146a microRNA 146a gene DOID:883 parasitic helminthiasis infectious disease exacerbates ISO RGD:1608327 D RGD:126925154|PMID:25024218 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:8929 atrophic gastritis exacerbates ISO RGD:1344673 D RGD:126925150|PMID:20721625 20210513 RGD associated with Helicobacter Infections;miRNA:SNP, haplotype: (rs2910164) (human) 2325382 Mir146a microRNA 146a gene DOID:9000099 Experimental Colitis ISO RGD:1608327 D RGD:126925183|PMID:24092752 20210513 RGD miRNA:increased expression:colon, small intestine (mouse) 2325382 Mir146a microRNA 146a gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1344673 D RGD:126925160|PMID:23292505 20210513 RGD associated with hepatitis B;miRNA:SNP: (rs2910164) (human) 2325382 Mir146a microRNA 146a gene DOID:9000371 influenza A ameliorates ISO RGD:1608327 D RGD:126925153|PMID:30611999 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:9000371 influenza A exacerbates ISO RGD:1608327 D RGD:126925152|PMID:31638222 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:9000483 Angina Pectoris ISO RGD:1344673 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325382 Mir146a microRNA 146a gene DOID:9000509 Epstein-Barr Virus Infections exacerbates ISO RGD:1344673 D RGD:126925156|PMID:31322518 20210513 RGD associated with respiratory allergy;miRNA:increased expression:blood serum (human) 2325382 Mir146a microRNA 146a gene DOID:9001415 Mycobacterium Infections ISO RGD:1608327 D RGD:126925155|PMID:27025258 20210513 RGD miRNA:altered expression:peritoneum, liver (mouse) 2325382 Mir146a microRNA 146a gene DOID:9002165 Diabetic Nephropathies exacerbates ISO RGD:1608327 D RGD:126925142|PMID:26647423 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:9002457 Experimental Arthritis ISO RGD:1608327 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:joints (mouse) 2325382 Mir146a microRNA 146a gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1608327 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:spinal cord (mouse) 2325382 Mir146a microRNA 146a gene DOID:9004017 Chronic Hepatitis C ISO RGD:1344673 D RGD:126925147|PMID:27147737 20210513 RGD miRNA:increased expression:liver (human) 2325382 Mir146a microRNA 146a gene DOID:9004017 Chronic Hepatitis C ISO RGD:1608327 D RGD:126925186|PMID:25877355 20210513 RGD miRNA:increased expression:peripheral blood mononuclear cell (mouse) 2325382 Mir146a microRNA 146a gene DOID:9004484 Sepsis ISO RGD:1608327 D RGD:126925143|PMID:26048146 20210513 RGD miRNA:increased expression:myocardium, blood serum (mouse) 2325382 Mir146a microRNA 146a gene DOID:9005106 Animal Toxoplasmosis ameliorates ISO RGD:1608327 D RGD:126925172|PMID:24582962 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:9005172 Lung Neoplasms ISO RGD:1344673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325382 Mir146a microRNA 146a gene DOID:9005930 Endotoxemia treatment ISO RGD:1608327 D RGD:34888227|PMID:30867482 20210513 RGD miRNA:increased expression:spleen (mouse) 2325382 Mir146a microRNA 146a gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:155882556|PMID:27760486 20230130 RGD 2325382 Mir146a microRNA 146a gene DOID:9006549 Enterovirus Infections ISO RGD:1344673 D RGD:126925164|PMID:28910400 20210513 RGD miRNA:increased expression:blood serum, exosome (human) 2325382 Mir146a microRNA 146a gene DOID:9006549 Enterovirus Infections ameliorates ISO RGD:1608327 D RGD:126925173|PMID:24561744 20210513 RGD 2325382 Mir146a microRNA 146a gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1608327 D RGD:126925174|PMID:25116007 20210513 RGD miRNA:increased expression:liver, hepatic stellate cell (mouse) 2325382 Mir146a microRNA 146a gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1608327 D RGD:126925179|PMID:27780686 20210513 RGD miRNA:increased expression:liver, macrophage (mouse) 2325382 Mir146a microRNA 146a gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1608327 D RGD:126925180|PMID:25051829 20210513 RGD miRNA:increased expression:liver (mouse) 2325382 Mir146a microRNA 146a gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325382 Mir146a microRNA 146a gene DOID:9007787 Carcinoid Tumor ISO RGD:1344673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325382 Mir146a microRNA 146a gene DOID:9008163 Chronic Hepatitis B ISO RGD:1344673 D RGD:126925146|PMID:23698745 20210513 RGD mRNA:increased expression:T cell (human) 2325382 Mir146a microRNA 146a gene DOID:9008227 Pregnancy-associated Malaria susceptibility ISO RGD:1344673 D RGD:126925184|PMID:30642347 20210513 RGD miRNA:SNP: (rs2910164) (human) 2325382 Mir146a microRNA 146a gene DOID:9008939 Breast Neoplasms ISO RGD:1344673 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325382 Mir146a microRNA 146a gene DOID:9074 systemic lupus erythematosus ISO RGD:1344673 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:kidney (human) 2325382 Mir146a microRNA 146a gene DOID:9074 systemic lupus erythematosus ISO RGD:1608327 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:kidney (mouse) 2325382 Mir146a microRNA 146a gene DOID:9256 colorectal cancer ISO RGD:1344673 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325382 Mir146a microRNA 146a gene DOID:9408 acute myocardial infarction ISO RGD:1344673 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325382 Mir146a microRNA 146a gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1344673 D RGD:24922224|PMID:28101643 20200331 RGD DNA:SNP: :rs2910164 (human) 2325383 Mir139 microRNA 139 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1354349 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 2325383 Mir139 microRNA 139 gene DOID:1059 intellectual disability ISO RGD:1354349 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325383 Mir139 microRNA 139 gene DOID:3073 brain glioblastoma multiforme ISO RGD:1354349 D RGD:13838722|PMID:26449464 20190109 RGD RNA:decreased expression:brain: 2325383 Mir139 microRNA 139 gene DOID:684 hepatocellular carcinoma ISO RGD:1354349 D RGD:153344549|PMID:30710422 20220824 RGD RNA:decreased expression:liver (human) 2325383 Mir139 microRNA 139 gene DOID:9452 fatty liver disease ISO RGD:1354349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325384 Mir136 microRNA 136 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1349910 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325384 Mir136 microRNA 136 gene DOID:1324 lung cancer ISO RGD:1608336 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325384 Mir136 microRNA 136 gene DOID:1324 lung cancer ameliorates ISO RGD:1349910 D RGD:153350142|PMID:34258296 20220912 RGD human cells in mouse model 2325384 Mir136 microRNA 136 gene DOID:219 colon cancer ISO RGD:1349910 D RGD:153344627|PMID:28710032 20220831 RGD RNA:decreased expression:colon (human) 2325384 Mir136 microRNA 136 gene DOID:219 colon cancer disease_progression ISO RGD:1349910 D RGD:153345546|PMID:29339925 20220902 RGD RNA:decreased expression:colon (human) 2325384 Mir136 microRNA 136 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:1349910 D RGD:153344610|PMID:32014687 20220830 RGD RNA:decreased expression:larynx (human) 2325384 Mir136 microRNA 136 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349910 D RGD:153344623|PMID:31059060 20220831 RGD RNA:decreased expression:lung (human) 2325384 Mir136 microRNA 136 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1349910 D RGD:153344608|PMID:34556984 20220912 RGD human cells in mouse model 2325384 Mir136 microRNA 136 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1349910 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325384 Mir136 microRNA 136 gene DOID:630 genetic disease ISO RGD:1349910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325384 Mir136 microRNA 136 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1349910 D RGD:153345547|PMID:28849100 20220902 RGD RNA:decreased expression:liver (human) 2325384 Mir136 microRNA 136 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1349910 D RGD:153344628|PMID:28656883 20220831 RGD associated with stomach cancer;human cells in mouse model 2325384 Mir136 microRNA 136 gene DOID:9005172 Lung Neoplasms ISO RGD:1349910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325384 Mir136 microRNA 136 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325384 Mir136 microRNA 136 gene DOID:9007787 Carcinoid Tumor ISO RGD:1349910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325384 Mir136 microRNA 136 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1349910 D RGD:153344629|PMID:34974791 20220906 RGD human cells in mouse model 2325385 Mir130a microRNA 130a gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1608340 D RGD:243065269|PMID:27834139 20230417 RGD 2325385 Mir130a microRNA 130a gene DOID:1059 intellectual disability ISO RGD:1347329 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325385 Mir130a microRNA 130a gene DOID:117 heart cancer ameliorates ISO RGD:1608340 D RGD:242905197|PMID:30843379 20230328 RGD 2325385 Mir130a microRNA 130a gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1347329 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325385 Mir130a microRNA 130a gene DOID:4989 pancreatitis ISO RGD:1347329 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325385 Mir130a microRNA 130a gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1347329 D RGD:11073600|PMID:24801815 20160428 RGD RNA:decreased expression:PBMC 2325385 Mir130a microRNA 130a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325385 Mir130a microRNA 130a gene DOID:9001542 Albuminuria ISO RGD:1347329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 2325385 Mir130a microRNA 130a gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325385 Mir130a microRNA 130a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347329 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 2325385 Mir130a microRNA 130a gene DOID:9256 colorectal cancer ISO RGD:1347329 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325385 Mir130a microRNA 130a gene DOID:9970 obesity ISO RGD:1347329 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 2325386 Mir126b microRNA 126b gene DOID:0050777 Joubert syndrome ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 2325386 Mir126b microRNA 126b gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1348236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1348236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348236 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348236 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:0081097 Rafiq syndrome ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 2325386 Mir126b microRNA 126b gene DOID:10283 prostate cancer ISO RGD:1348236 D RGD:9068941 20200609 RGD RNA:decreased expression:prostate gland PMID:26677064|REF_RGD_ID:11561757 2325386 Mir126b microRNA 126b gene DOID:10591 pre-eclampsia ISO RGD:1348236 D RGD:9068941 20230128 RGD miRNA:decreased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 2325386 Mir126b microRNA 126b gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348236 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325386 Mir126b microRNA 126b gene DOID:1790 malignant mesothelioma ISO RGD:1348236 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:21483773 2325386 Mir126b microRNA 126b gene DOID:1826 epilepsy ISO RGD:1348236 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2325386 Mir126b microRNA 126b gene DOID:219 colon cancer ISO RGD:1348236 D RGD:13432043|PMID:18663744 20170913 RGD 2325386 Mir126b microRNA 126b gene DOID:3393 coronary artery disease disease_progression ISO RGD:1348236 D RGD:9068941 20230202 RGD miRNA:increased expression:blood plasma (human) PMID:25728840|REF_RGD_ID:11056497 2325386 Mir126b microRNA 126b gene DOID:3652 Leigh disease ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348236 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:20097187 2325386 Mir126b microRNA 126b gene DOID:6000 congestive heart failure ISO RGD:1348236 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325386 Mir126b microRNA 126b gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2325386 Mir126b microRNA 126b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348236 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325386 Mir126b microRNA 126b gene DOID:9008939 Breast Neoplasms ISO RGD:1348236 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325386 Mir126b microRNA 126b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348236 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325387 Mir125a microRNA 125a gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325387 Mir125a microRNA 125a gene DOID:0080162 lupus nephritis IEP D RGD:26884458|PMID:30972208 20200511 RGD RNA:decreased expression:kidney 2325387 Mir125a microRNA 125a gene DOID:10534 stomach cancer disease_progression ISO RGD:1353053 D RGD:21403678|PMID:30117667 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:10534 stomach cancer severity ISO RGD:1353053 D RGD:21408544|PMID:22322911 20200312 RGD 2325387 Mir125a microRNA 125a gene DOID:10603 glucose intolerance ISO RGD:1607653 D RGD:21403676|PMID:31988048 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:1168 familial hyperlipidemia ISO RGD:1607653 D RGD:21403676|PMID:31988048 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:12098 trigeminal neuralgia IEP D RGD:26884456|PMID:25380251 20200511 RGD RNA:decreased expression: trigeminal ganglion: 2325387 Mir125a microRNA 125a gene DOID:1790 malignant mesothelioma ISO RGD:1353053 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 2325387 Mir125a microRNA 125a gene DOID:1826 epilepsy treatment IDA D RGD:26884457|PMID:31490757 20200512 RGD 2325387 Mir125a microRNA 125a gene DOID:3770 pulmonary fibrosis ISO RGD:1353053 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:30658076 2325387 Mir125a microRNA 125a gene DOID:6000 congestive heart failure ISO RGD:1353053 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325387 Mir125a microRNA 125a gene DOID:6432 pulmonary hypertension treatment IDA D RGD:26884455|PMID:29700287 20200511 RGD 2325387 Mir125a microRNA 125a gene DOID:684 hepatocellular carcinoma ISO RGD:1353053 D RGD:21403677|PMID:30257386 20200309 RGD RNA:increased expression:liver: 2325387 Mir125a microRNA 125a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353053 D RGD:21403679|PMID:29951066 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1607653 D RGD:21403677|PMID:30257386 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:9000081 Lymphatic Metastasis ISO RGD:1353053 D RGD:21408544|PMID:22322911 20200312 RGD associated with stomach cancer; 2325387 Mir125a microRNA 125a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325387 Mir125a microRNA 125a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353053 D RGD:21403678|PMID:30117667 20200309 RGD associated with stomach cancer; 2325387 Mir125a microRNA 125a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325387 Mir125a microRNA 125a gene DOID:9002514 Neointima treatment IMP D RGD:26884369|PMID:30156956 20200508 RGD 2325387 Mir125a microRNA 125a gene DOID:9004771 Vascular Remodeling treatment IDA D RGD:26884455|PMID:29700287 20200511 RGD 2325387 Mir125a microRNA 125a gene DOID:9006302 Binge Drinking IEP D RGD:26884454|PMID:27085842 20200511 RGD RNA:decreased expression:neuron 2325387 Mir125a microRNA 125a gene DOID:9007692 Insulin Resistance ISO RGD:1607653 D RGD:21403676|PMID:31988048 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:9452 fatty liver disease ISO RGD:1607653 D RGD:21403676|PMID:31988048 20200309 RGD 2325387 Mir125a microRNA 125a gene DOID:9970 obesity ISO RGD:1607653 D RGD:21403676|PMID:31988048 20200309 RGD 2325388 Mir106b microRNA 106b gene DOID:12849 autistic disorder ISO RGD:1346496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20374639 2325388 Mir106b microRNA 106b gene DOID:3347 osteosarcoma ISO RGD:1346496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 2325388 Mir106b microRNA 106b gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346496 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325388 Mir106b microRNA 106b gene DOID:6000 congestive heart failure ISO RGD:1346496 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325388 Mir106b microRNA 106b gene DOID:684 hepatocellular carcinoma IEP D RGD:15042874|PMID:28958640 20191213 RGD miRNA:decreased expression:liver (human) 2325388 Mir106b microRNA 106b gene DOID:684 hepatocellular carcinoma IEP D RGD:15042875|PMID:25894380 20191213 RGD miRNA:increased expression:plasma (human) 2325388 Mir106b microRNA 106b gene DOID:684 hepatocellular carcinoma disease_progression IEP D RGD:15042876|PMID:28611524 20191213 RGD miRNA:increased expression:serum (human) 2325388 Mir106b microRNA 106b gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15042877|PMID:31406464 20191213 RGD miRNA:increased expression:liver (human) 2325388 Mir106b microRNA 106b gene DOID:9007383 Chemical and Drug Induced Liver Injury IDA D RGD:15042854|PMID:29554950 20191211 RGD DNA:hypermethylation:promoter 2325388 Mir106b microRNA 106b gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:15042854|PMID:29554950 20191211 RGD miRNA:decreased expression:liver (rat) 2325388 Mir106b microRNA 106b gene DOID:9008163 Chronic Hepatitis B severity IEP D RGD:15042853|PMID:27298561 20191211 RGD associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) 2325388 Mir106b microRNA 106b gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 2325388 Mir106b microRNA 106b gene DOID:9256 colorectal cancer ISO RGD:1346496 D RGD:9068941 20220805 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325389 Mir100 microRNA 100 gene DOID:10652 Alzheimer's disease ISO RGD:1345382 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:25992776 2325389 Mir100 microRNA 100 gene DOID:11054 urinary bladder cancer ISO RGD:1345382 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325389 Mir100 microRNA 100 gene DOID:2043 hepatitis B ISO RGD:1345382 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325389 Mir100 microRNA 100 gene DOID:2671 transitional cell carcinoma ISO RGD:1345382 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325389 Mir100 microRNA 100 gene DOID:2921 glomerulonephritis ISO RGD:1345382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25758243 2325389 Mir100 microRNA 100 gene DOID:4989 pancreatitis ISO RGD:1345382 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325389 Mir100 microRNA 100 gene DOID:5419 schizophrenia ISO RGD:1345382 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325389 Mir100 microRNA 100 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 2325389 Mir100 microRNA 100 gene DOID:9000918 Disease Progression ISO RGD:1345382 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325389 Mir100 microRNA 100 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325389 Mir100 microRNA 100 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345382 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2325389 Mir100 microRNA 100 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345382 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325389 Mir100 microRNA 100 gene DOID:9007661 Dwarfism ISO RGD:1345382 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2325390 Mir92a1 microRNA 92a-1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346101 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 2325390 Mir92a1 microRNA 92a-1 gene DOID:9538 multiple myeloma ISO RGD:1346101 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:29687521 2325391 Mir31 microRNA 31 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1343532 D RGD:152995482|PMID:31874165 20220624 RGD RNA:increased expression:blood plasma (human) 2325391 Mir31 microRNA 31 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1343532 D RGD:152998938|PMID:21658006 20220707 RGD RNA:increased expression:blood serum (human) 2325391 Mir31 microRNA 31 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1343532 D RGD:153297767|PMID:20233326 20220722 RGD 2325391 Mir31 microRNA 31 gene DOID:10534 stomach cancer ISO RGD:1343532 D RGD:153297815|PMID:19598010 20220727 RGD RNA:decreased expression:stomach (human) 2325391 Mir31 microRNA 31 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343532 D RGD:153297803|PMID:27904131 20220727 RGD RNA:decreased expression:stomach (human) 2325391 Mir31 microRNA 31 gene DOID:1324 lung cancer ISO RGD:1608161 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325391 Mir31 microRNA 31 gene DOID:1324 lung cancer disease_progression ISO RGD:1343532 D RGD:152998919|PMID:25765717 20220706 RGD RNA:increased expression:peripheral blood mononuclear cell (human) 2325391 Mir31 microRNA 31 gene DOID:1612 breast cancer ISO RGD:1343532 D RGD:153297766|PMID:32104069 20220722 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) 2325391 Mir31 microRNA 31 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:1343532 D RGD:152998933|PMID:29737563 20220707 RGD RNA:decreased expression:mucosa of larynx (human) 2325391 Mir31 microRNA 31 gene DOID:3068 glioblastoma ISO RGD:1343532 D RGD:152998941|PMID:22089331 20220707 RGD RNA:decreased expression:brain (human) 2325391 Mir31 microRNA 31 gene DOID:3717 gastric adenocarcinoma ISO RGD:1343532 D RGD:152998938|PMID:21658006 20220707 RGD RNA:decreased expression:blood serum (human) 2325391 Mir31 microRNA 31 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1343532 D RGD:152998938|PMID:21658006 20220707 RGD RNA:increased expression:blood serum (human) 2325391 Mir31 microRNA 31 gene DOID:3748 esophagus squamous cell carcinoma ameliorates IMP D RGD:127285381|PMID:32123074 20220204 RGD 2325391 Mir31 microRNA 31 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1343532 D RGD:152998938|PMID:21658006 20220707 RGD 2325391 Mir31 microRNA 31 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343532 D RGD:152998938|PMID:21658006 20220707 RGD RNA:increased expression:blood serum (human) 2325391 Mir31 microRNA 31 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1343532 D RGD:152998950|PMID:21890451 20220708 RGD RNA:increased expression:lung (human) 2325391 Mir31 microRNA 31 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343532 D RGD:152998954|PMID:27777637 20220708 RGD miRNA:increased expression:sputum (human) 2325391 Mir31 microRNA 31 gene DOID:3910 lung adenocarcinoma ISO RGD:1343532 D RGD:11250998|PMID:27215092 20220707 RGD RNA:increased expression:lung (human) 2325391 Mir31 microRNA 31 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1343532 D RGD:152998944|PMID:23946296 20220707 RGD RNA:increased expression:lung (human) 2325391 Mir31 microRNA 31 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343532 D RGD:11343268|PMID:26657862 20220707 RGD RNA:increased expression:lung (human) 2325391 Mir31 microRNA 31 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343532 D RGD:152998945|PMID:29367106 20220707 RGD RNA:increased expression:lung (human) 2325391 Mir31 microRNA 31 gene DOID:4450 renal cell carcinoma severity ISO RGD:1343532 D RGD:153297805|PMID:30597305 20220727 RGD RNA:decreased expression:proximal convoluted tubule (human) 2325391 Mir31 microRNA 31 gene DOID:4606 bile duct cancer exacerbates ISO RGD:1343532 D RGD:152998990|PMID:29860474 20220714 RGD RNA:increased expression:bile duct (human) 2325391 Mir31 microRNA 31 gene DOID:4989 pancreatitis ISO RGD:1343532 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325391 Mir31 microRNA 31 gene DOID:5419 schizophrenia ISO RGD:1343532 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325391 Mir31 microRNA 31 gene DOID:684 hepatocellular carcinoma IEP D RGD:11085965|PMID:25797269 20220719 RGD miRNA:decreased expression:liver (rat) 2325391 Mir31 microRNA 31 gene DOID:684 hepatocellular carcinoma ISO RGD:1343532 D RGD:152998991|PMID:28623129 20220714 RGD RNA:decreased expression:liver (human) 2325391 Mir31 microRNA 31 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343532 D RGD:11085965|PMID:25797269 20220719 RGD miRNA:decreased expression:liver (human) 2325391 Mir31 microRNA 31 gene DOID:8577 ulcerative colitis ISO RGD:1343532 D RGD:21403682|PMID:29438285 20200309 RGD miRNA:increased expression:colon 2325391 Mir31 microRNA 31 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325391 Mir31 microRNA 31 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1343532 D RGD:9068941 20220728 RGD associated with colorectal cancer;RNA:increased expression:colorectum (human) PMID:26497852|REF_RGD_ID:153297806 2325391 Mir31 microRNA 31 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1343532 D RGD:153297776|PMID:30108104 20220726 RGD associated with colorectal cancer 2325391 Mir31 microRNA 31 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1343532 D RGD:153297811|PMID:27174918 20220727 RGD associated with stomach cancer;human cells in mouse model 2325391 Mir31 microRNA 31 gene DOID:9002928 Colonic Neoplasms ISO RGD:1343532 D RGD:9068941 20220721 RGD associated with inflammatory bowel disease; RNA:increased expression:colorectal mucosa (human) PMID:20848542|REF_RGD_ID:153297753 2325391 Mir31 microRNA 31 gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1608161 D RGD:152998983|PMID:28600172 20220714 RGD 2325391 Mir31 microRNA 31 gene DOID:9005172 Lung Neoplasms ISO RGD:1343532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20237410 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer ISO RGD:1343532 D RGD:11530687|PMID:26173758 20220714 RGD RNA:increased expression:colorectal mucosa (human) 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer ISO RGD:1343532 D RGD:153002793|PMID:23322774 20220720 RGD miRNA:increased expression:colorectum (human) 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer ISO RGD:1343532 D RGD:153297812|PMID:29928882 20220727 RGD RNA:increased expression:colorectum (human) 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1343532 D RGD:152998983|PMID:28600172 20220714 RGD RNA:increased expression:colorectum (human) 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1343532 D RGD:153297791|PMID:30396078 20220726 RGD RNA:increased expression:colorectum (human) 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1343532 D RGD:153297808|PMID:19242066 20220727 RGD miRNA:increased expression:colorectal mucosa (human) 2325391 Mir31 microRNA 31 gene DOID:9256 colorectal cancer treatment ISO RGD:1343532 D RGD:153297782|PMID:32682784 20220726 RGD human cells in mouse model 2325391 Mir31 microRNA 31 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1343532 D RGD:152998921|PMID:25098679 20220727 RGD Human cells in mouse model 2325391 Mir31 microRNA 31 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1343532 D RGD:152998936|PMID:31129965 20220707 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) 2325392 Mir30b microRNA 30b gene DOID:0060224 atrial fibrillation ISO RGD:1349241 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 2325392 Mir30b microRNA 30b gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325392 Mir30b microRNA 30b gene DOID:219 colon cancer disease_progression ISO RGD:1349241 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) 2325392 Mir30b microRNA 30b gene DOID:4989 pancreatitis ISO RGD:1349241 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325392 Mir30b microRNA 30b gene DOID:5082 liver cirrhosis ISO RGD:1349241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325392 Mir30b microRNA 30b gene DOID:6000 congestive heart failure ISO RGD:1349241 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325392 Mir30b microRNA 30b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325392 Mir30b microRNA 30b gene DOID:9003936 Cardiomegaly IEP D RGD:11561904|PMID:23326547 20161110 RGD RNA:decreased expression:heart left ventricle 2325392 Mir30b microRNA 30b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349241 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325392 Mir30b microRNA 30b gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349241 D RGD:13432037|PMID:24293274 20170913 RGD 2325393 Mir29a microRNA 29a gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1347397 D RGD:242905206|PMID:34887365 20230328 RGD RNA:decreased expression:blood serum (human) 2325393 Mir29a microRNA 29a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1347397 D RGD:9068941 20230202 RGD miRNA:increased expression:vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 2325393 Mir29a microRNA 29a gene DOID:13976 peptic esophagitis IEP D RGD:25824949|PMID:28757556 20200508 RGD 2325393 Mir29a microRNA 29a gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347397 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325393 Mir29a microRNA 29a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347397 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325393 Mir29a microRNA 29a gene DOID:4989 pancreatitis ISO RGD:1347397 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325393 Mir29a microRNA 29a gene DOID:557 kidney disease ISO RGD:1347397 D RGD:11554173 20201217 CTD CTD Direct Evidence: therapeutic PMID:30642005 2325393 Mir29a microRNA 29a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1347397 D RGD:15042850|PMID:23285022 20200508 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 2325393 Mir29a microRNA 29a gene DOID:9007188 Liver Neoplasms ISO RGD:1347397 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:21175813 2325393 Mir29a microRNA 29a gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347397 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325393 Mir29a microRNA 29a gene DOID:9008939 Breast Neoplasms ISO RGD:1347397 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325393 Mir29a microRNA 29a gene DOID:9351 diabetes mellitus ISO RGD:1347397 D RGD:243065126|PMID:32544883 20230411 RGD RNA:increased expression:blood: 2325393 Mir29a microRNA 29a gene DOID:9351 diabetes mellitus exacerbates IDA D RGD:243065126|PMID:32544883 20230411 RGD RNA:increased expression:sciatic nerve: 2325393 Mir29a microRNA 29a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347397 D RGD:13702880|PMID:29374012 20200508 RGD RNA:increased expression:arteriole 2325393 Mir29a microRNA 29a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347397 D RGD:243048436|PMID:33116722 20230331 RGD RNA:incrased expression:blood serum (human) 2325394 Mir26b microRNA 26b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325394 Mir26b microRNA 26b gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1350106 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 2325394 Mir26b microRNA 26b gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2325394 Mir26b microRNA 26b gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2325394 Mir26b microRNA 26b gene DOID:3770 pulmonary fibrosis ISO RGD:1350106 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325394 Mir26b microRNA 26b gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1350106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2325394 Mir26b microRNA 26b gene DOID:6000 congestive heart failure ISO RGD:1350106 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325394 Mir26b microRNA 26b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325394 Mir26b microRNA 26b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350106 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325394 Mir26b microRNA 26b gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350106 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23922874 2325395 Mir23a microRNA 23a gene DOID:0060319 cardiac arrest IEP D RGD:155882547|PMID:30824348 20230130 RGD RNA:decreased expression:hippocampus, cortex; 2325395 Mir23a microRNA 23a gene DOID:12849 autistic disorder ISO RGD:1351663 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20374639 2325395 Mir23a microRNA 23a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1351663 D RGD:9068941 20230202 RGD miRNA:increased expression:blood serum (human) PMID:24970617|REF_RGD_ID:155882576 2325395 Mir23a microRNA 23a gene DOID:14557 primary pulmonary hypertension ISO RGD:1351663 D RGD:155882560|PMID:25815108 20230130 RGD RNA:increased expression:serum 2325395 Mir23a microRNA 23a gene DOID:3021 acute kidney failure ISO RGD:1351663 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325395 Mir23a microRNA 23a gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351663 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 2325395 Mir23a microRNA 23a gene DOID:4448 macular degeneration ISO RGD:1351663 D RGD:10053591|PMID:21693609 20150715 RGD RNA:decreased expression:retinal pigment epithelial cell: 2325395 Mir23a microRNA 23a gene DOID:6000 congestive heart failure ISO RGD:1351663 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325395 Mir23a microRNA 23a gene DOID:684 hepatocellular carcinoma ISO RGD:1351663 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:22318941|REF_RGD_ID:14694846 2325395 Mir23a microRNA 23a gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1351663 D RGD:155882557|PMID:29771433 20230130 RGD RNA:increased expression:serum 2325395 Mir23a microRNA 23a gene DOID:9002676 Cerebral Hemorrhage ameliorates IMP D RGD:155882539|PMID:33403590 20230127 RGD 2325395 Mir23a microRNA 23a gene DOID:9003049 Femur Head Necrosis ameliorates IMP D RGD:155882564|PMID:29039554 20230130 RGD 2325395 Mir23a microRNA 23a gene DOID:9003936 Cardiomegaly ISO RGD:1607670 D RGD:155882559|PMID:22084234 20230130 RGD 2325395 Mir23a microRNA 23a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351663 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325395 Mir23a microRNA 23a gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351663 D RGD:153344558|PMID:23758639 20220825 RGD RNA:increased expression:colorectum, blood (human) 2325395 Mir23a microRNA 23a gene DOID:9970 obesity ISO RGD:1351663 D RGD:155882550|PMID:31321740 20230130 RGD associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: 2325396 Mir18a microRNA 18a gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350945 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 2325396 Mir18a microRNA 18a gene DOID:0110878 holoprosencephaly 5 ISO RGD:1350945 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 2325396 Mir18a microRNA 18a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1350945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325396 Mir18a microRNA 18a gene DOID:6000 congestive heart failure ISO RGD:1350945 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325396 Mir18a microRNA 18a gene DOID:684 hepatocellular carcinoma IEP D RGD:15039398|PMID:19027010 20191204 RGD miRNA:increased expression:liver (human) 2325396 Mir18a microRNA 18a gene DOID:684 hepatocellular carcinoma IEP D RGD:15039401|PMID:24975878 20191205 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 2325396 Mir18a microRNA 18a gene DOID:684 hepatocellular carcinoma IEP D RGD:15039404|PMID:29455432 20191205 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:serum (human) 2325396 Mir18a microRNA 18a gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15039389|PMID:30191950 20191205 RGD miRNA:increased expression:liver (human) 2325396 Mir18a microRNA 18a gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15039400|PMID:30519035 20191205 RGD miRNA:increased expression:liver (human) 2325396 Mir18a microRNA 18a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325396 Mir18a microRNA 18a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350945 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325396 Mir18a microRNA 18a gene DOID:9256 colorectal cancer ISO RGD:1350945 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325397 Mir10b microRNA 10b gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1352164 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 2325397 Mir10b microRNA 10b gene DOID:2921 glomerulonephritis ISO RGD:1352164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25758243 2325397 Mir10b microRNA 10b gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1352164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 2325397 Mir10b microRNA 10b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325397 Mir10b microRNA 10b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325397 Mir10b microRNA 10b gene DOID:9008939 Breast Neoplasms ISO RGD:1352164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325397 Mir10b microRNA 10b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352164 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325397 Mir10b microRNA 10b gene DOID:9452 fatty liver disease ISO RGD:1352164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325399 Mirlet7c2 microRNA let7c-2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1353923 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 2325399 Mirlet7c2 microRNA let7c-2 gene DOID:1059 intellectual disability ISO RGD:1353923 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325400 Mir151 microRNA 151 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1608322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325400 Mir151 microRNA 151 gene DOID:219 colon cancer disease_progression ISO RGD:1345628 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:decreased expression:colon,exosome (human) 2325400 Mir151 microRNA 151 gene DOID:3021 acute kidney failure ISO RGD:1608322 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325400 Mir151 microRNA 151 gene DOID:6000 congestive heart failure ISO RGD:1345628 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325400 Mir151 microRNA 151 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1608322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325400 Mir151 microRNA 151 gene DOID:9256 colorectal cancer ISO RGD:1345628 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325400 Mir151 microRNA 151 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345628 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325401 Mir20a microRNA 20a gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1352718 D RGD:26884343|PMID:26781875 20200507 RGD 2325401 Mir20a microRNA 20a gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:25823148|PMID:30030064 20200501 RGD associated with type 2 diabetes mellitus 2325401 Mir20a microRNA 20a gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352718 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 2325401 Mir20a microRNA 20a gene DOID:10283 prostate cancer ISO RGD:1352718 D RGD:25823156|PMID:27650539 20200501 RGD 2325401 Mir20a microRNA 20a gene DOID:11166 papillomavirus infectious disease ISO RGD:1352718 D RGD:26884343|PMID:26781875 20200507 RGD associated with oral squamous cell carcinoma 2325401 Mir20a microRNA 20a gene DOID:1936 atherosclerosis ameliorates ISO RGD:1608350 D RGD:242905195|PMID:35854140 20230328 RGD 2325401 Mir20a microRNA 20a gene DOID:1993 rectum cancer ISO RGD:1352718 D RGD:25823152|PMID:30277504 20200501 RGD 2325401 Mir20a microRNA 20a gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1352718 D RGD:25823149|PMID:29459010 20200501 RGD 2325401 Mir20a microRNA 20a gene DOID:3717 gastric adenocarcinoma ISO RGD:1352718 D RGD:25823155|PMID:27756776 20200501 RGD miRNA:increased expression:stomach, serum,extracellular exosome 2325401 Mir20a microRNA 20a gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352718 D RGD:11572141|PMID:26560875 20200507 RGD 2325401 Mir20a microRNA 20a gene DOID:3910 lung adenocarcinoma ISO RGD:1352718 D RGD:11572141|PMID:26560875 20200507 RGD 2325401 Mir20a microRNA 20a gene DOID:552 pneumonia ISO RGD:1352718 D RGD:25823151|PMID:29115456 20200501 RGD 2325401 Mir20a microRNA 20a gene DOID:6000 congestive heart failure ISO RGD:1352718 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325401 Mir20a microRNA 20a gene DOID:684 hepatocellular carcinoma ISO RGD:1352718 D RGD:25823145|PMID:30623908 20200430 RGD associated with Human Viral Hepatitis 2325401 Mir20a microRNA 20a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352718 D RGD:25823157|PMID:27286257 20200501 RGD associated with colorectal cancer 2325401 Mir20a microRNA 20a gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1352718 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32720422 2325401 Mir20a microRNA 20a gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352718 D RGD:25823150|PMID:30589041 20200501 RGD miRNA:decreased expression:serum 2325401 Mir20a microRNA 20a gene DOID:9256 colorectal cancer ISO RGD:1352718 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325402 Mir346 microRNA 346 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325402 Mir346 microRNA 346 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352152 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 2325402 Mir346 microRNA 346 gene DOID:9000918 Disease Progression ISO RGD:1352152 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 2325402 Mir346 microRNA 346 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352152 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27501413|PMID:27777383 2325402 Mir346 microRNA 346 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352152 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27501413|PMID:27777383 2325402 Mir346 microRNA 346 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325402 Mir346 microRNA 346 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352152 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34773443 2325403 Mir336 microRNA 336 gene DOID:9001586 Experimental Liver Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325404 Mir328 microRNA 328 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2325404 Mir328 microRNA 328 gene DOID:3347 osteosarcoma ISO RGD:1348110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25605016 2325404 Mir328 microRNA 328 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348110 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325405 Mir301a microRNA 301a gene DOID:0050436 mulibrey nanism ISO RGD:1345841 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 2325405 Mir301a microRNA 301a gene DOID:14330 Parkinson's disease ISO RGD:1345841 D RGD:10755479|PMID:22003392 20160129 RGD 2325405 Mir301a microRNA 301a gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345841 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35305058 2325405 Mir301a microRNA 301a gene DOID:6000 congestive heart failure ISO RGD:1345841 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325405 Mir301a microRNA 301a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325405 Mir301a microRNA 301a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345841 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325405 Mir301a microRNA 301a gene DOID:9008939 Breast Neoplasms ISO RGD:1345841 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29763890 2325406 Mir216a microRNA 216a gene DOID:10591 pre-eclampsia ameliorates IEP D RGD:213230155|PMID:31203154 20230323 RGD 2325406 Mir216a microRNA 216a gene DOID:4989 pancreatitis ISO RGD:1353818 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325407 Mir141 microRNA 141 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2325407 Mir141 microRNA 141 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345345 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 2325407 Mir141 microRNA 141 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345345 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 2325407 Mir141 microRNA 141 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345345 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2325407 Mir141 microRNA 141 gene DOID:0111621 Temtamy syndrome ISO RGD:1345345 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2325407 Mir141 microRNA 141 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345345 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325407 Mir141 microRNA 141 gene DOID:4989 pancreatitis ISO RGD:1345345 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325407 Mir141 microRNA 141 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345345 D RGD:11554173 20170207 CTD CTD Direct Evidence: therapeutic PMID:27616325 2325407 Mir141 microRNA 141 gene DOID:9006618 Liver Metastasis ISO RGD:1345345 D RGD:14928321|PMID:28617555 20190916 RGD associated with colorectal cancer;RNA:increased expression:liver: 2325407 Mir141 microRNA 141 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345345 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:28545106 2325407 Mir141 microRNA 141 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345345 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2325407 Mir141 microRNA 141 gene DOID:9008939 Breast Neoplasms ISO RGD:1345345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325407 Mir141 microRNA 141 gene DOID:9256 colorectal cancer ISO RGD:1345345 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325407 Mir141 microRNA 141 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345345 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325408 Mir33 microRNA 33 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 2325408 Mir33 microRNA 33 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348329 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 2325409 Mirlet7a1 microRNA let-7a-1 gene DOID:12365 malaria treatment ISO RGD:1607644 D RGD:35673288|PMID:28123381 20200710 RGD 2325409 Mirlet7a1 microRNA let-7a-1 gene DOID:12642 hiatus hernia ISO RGD:1347279 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 2325410 Mir496 microRNA 496 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603768 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325410 Mir496 microRNA 496 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603768 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325411 Mir761 microRNA 761 gene DOID:5844 myocardial infarction ISO RGD:3497320 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:23867156 2325411 Mir761 microRNA 761 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:3497320 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:23867156 2325413 Mir582 microRNA 582 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325414 Mir490 microRNA 490 gene DOID:3770 pulmonary fibrosis ISO RGD:1603779 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:33482250 2325415 Mir770 microRNA 770 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2290258 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325415 Mir770 microRNA 770 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:2290258 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325415 Mir770 microRNA 770 gene DOID:9002170 Experimental Neoplasms ISO RGD:2290258 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325416 Mir598 microRNA 598 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1603078 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325416 Mir598 microRNA 598 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603078 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325417 Mir455 microRNA 455 gene DOID:2043 hepatitis B ISO RGD:1604864 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325417 Mir455 microRNA 455 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1604864 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 2325417 Mir455 microRNA 455 gene DOID:684 hepatocellular carcinoma ISO RGD:1604864 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35286011 2325417 Mir455 microRNA 455 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604864 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325418 Mir196c microRNA 196c gene DOID:10534 stomach cancer exacerbates ISO RGD:1353314 D RGD:9068941 20220825 RGD RNA:increased expression:stomach (human) PMID:25374225|REF_RGD_ID:153344565 2325418 Mir196c microRNA 196c gene DOID:219 colon cancer disease_progression ISO RGD:1353314 D RGD:9068941 20220825 RGD human cells in mouse model;RNA:decreased expression:colon,exosome (human) PMID:28211508|REF_RGD_ID:153344546 2325420 Mir20b microRNA 20b gene DOID:12849 autistic disorder ISO RGD:1604874 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325420 Mir20b microRNA 20b gene DOID:4989 pancreatitis ISO RGD:1604874 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325420 Mir20b microRNA 20b gene DOID:6000 congestive heart failure ISO RGD:1604874 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325420 Mir20b microRNA 20b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325420 Mir20b microRNA 20b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1604874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325420 Mir20b microRNA 20b gene DOID:9256 colorectal cancer ISO RGD:1604874 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325422 Mir542 microRNA 542 gene DOID:12849 autistic disorder ISO RGD:1606043 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325422 Mir542 microRNA 542 gene DOID:7305 astroblastoma disease_progression ISO RGD:1606043 D RGD:13782052|PMID:26286747 20180816 RGD 2325422 Mir542 microRNA 542 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1606043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325422 Mir542 microRNA 542 gene DOID:9452 fatty liver disease ISO RGD:1606043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325423 Mir433 microRNA 433 gene DOID:0050700 cardiomyopathy ISO RGD:1604872 D RGD:14700802|PMID:27698941 20190819 RGD 2325423 Mir433 microRNA 433 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1604872 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325423 Mir433 microRNA 433 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1604872 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325423 Mir433 microRNA 433 gene DOID:9002170 Experimental Neoplasms ISO RGD:1604872 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325423 Mir433 microRNA 433 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1607585 D RGD:14700802|PMID:27698941 20190819 RGD associated with myocardial infarction 2325423 Mir433 microRNA 433 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1607585 D RGD:14700802|PMID:27698941 20190819 RGD associated with myocardial infarction 2325423 Mir433 microRNA 433 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1604872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325424 Mir300 microRNA 300 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2290255 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325424 Mir300 microRNA 300 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:2290255 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325424 Mir300 microRNA 300 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2290255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325424 Mir300 microRNA 300 gene DOID:9002170 Experimental Neoplasms ISO RGD:2290255 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325426 Mir200a microRNA 200a gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325426 Mir200a microRNA 200a gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348162 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 2325426 Mir200a microRNA 200a gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1348162 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2325426 Mir200a microRNA 200a gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1348162 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2325426 Mir200a microRNA 200a gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1348162 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2325426 Mir200a microRNA 200a gene DOID:0110994 Joubert syndrome 25 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325426 Mir200a microRNA 200a gene DOID:0111934 immunodeficiency 38 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325426 Mir200a microRNA 200a gene DOID:0111935 immunodeficiency 16 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325426 Mir200a microRNA 200a gene DOID:4989 pancreatitis ISO RGD:1348162 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325426 Mir200a microRNA 200a gene DOID:5082 liver cirrhosis IEP D RGD:155791681|PMID:32319630 20230105 RGD RNA:decreased expression:liver: 2325426 Mir200a microRNA 200a gene DOID:9000096 Lung Agenesis ISO RGD:1348162 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:33048239 2325426 Mir200a microRNA 200a gene DOID:9001820 Pulmonary Arterial Hypertension treatment IEP D RGD:156430315|PMID:30240970 20230223 RGD 2325426 Mir200a microRNA 200a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348162 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325426 Mir200a microRNA 200a gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1348162 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2325426 Mir200a microRNA 200a gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1348162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325426 Mir200a microRNA 200a gene DOID:9256 colorectal cancer ISO RGD:1348162 D RGD:9068941 20220929 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325426 Mir200a microRNA 200a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348162 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325427 Mir192 microRNA 192 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2325427 Mir192 microRNA 192 gene DOID:1059 intellectual disability ISO RGD:1353067 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325427 Mir192 microRNA 192 gene DOID:13768 opisthorchiasis ISO RGD:1353067 D RGD:41404678|PMID:26456596 20210203 RGD RNA:increased expression:urine 2325427 Mir192 microRNA 192 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2325427 Mir192 microRNA 192 gene DOID:2043 hepatitis B ISO RGD:1353067 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325427 Mir192 microRNA 192 gene DOID:2746 glycogen storage disease V ISO RGD:1353067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2325427 Mir192 microRNA 192 gene DOID:3021 acute kidney failure ISO RGD:1353067 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325427 Mir192 microRNA 192 gene DOID:3070 high grade glioma ISO RGD:1353067 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 2325427 Mir192 microRNA 192 gene DOID:4947 cholangiocarcinoma ISO RGD:1353067 D RGD:41404678|PMID:26456596 20210203 RGD RNA:increased expression:urine 2325427 Mir192 microRNA 192 gene DOID:4989 pancreatitis ISO RGD:1353067 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325427 Mir192 microRNA 192 gene DOID:557 kidney disease ISO RGD:1353067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 2325427 Mir192 microRNA 192 gene DOID:7474 malignant pleural mesothelioma ISO RGD:1353067 D RGD:11529530|PMID:26125439 20220830 RGD miRNA:decreased expression:pleura (human) 2325427 Mir192 microRNA 192 gene DOID:9005369 Hepatomegaly ISO RGD:1353067 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:28483554 2325427 Mir192 microRNA 192 gene DOID:9005749 Necrosis ISO RGD:1353067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 2325427 Mir192 microRNA 192 gene DOID:9005837 Cholangiofibrosis ISO RGD:1353067 D RGD:41404678|PMID:26456596 20210203 RGD RNA:increased expression:urine 2325427 Mir192 microRNA 192 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353067 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:22045675|PMID:25359176|PMID:28483554|PMID:28545106 2325427 Mir192 microRNA 192 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353067 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325428 Mir144 microRNA 144 gene DOID:10591 pre-eclampsia ISO RGD:1350288 D RGD:155882496|PMID:25017274 20230126 RGD miRNA:decreased expression:blood serum (human) 2325428 Mir144 microRNA 144 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1350288 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325428 Mir144 microRNA 144 gene DOID:6000 congestive heart failure ISO RGD:1350288 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325428 Mir144 microRNA 144 gene DOID:657 adenoma ISO RGD:1350288 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325428 Mir144 microRNA 144 gene DOID:9000998 Brain Injuries IEP D RGD:11576302|PMID:25089700 20170106 RGD 2325428 Mir144 microRNA 144 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350288 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325429 Mir134 microRNA 134 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1347046 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325429 Mir134 microRNA 134 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1347046 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325429 Mir134 microRNA 134 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1347046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325429 Mir134 microRNA 134 gene DOID:9452 fatty liver disease ISO RGD:1347046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325430 Mir127 microRNA 127 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1344992 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325430 Mir127 microRNA 127 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325430 Mir127 microRNA 127 gene DOID:1324 lung cancer ISO RGD:1608343 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325430 Mir127 microRNA 127 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344992 D RGD:152995354|PMID:27645894 20220615 RGD RNA:decreased expression:esophagus (human) 2325430 Mir127 microRNA 127 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1344992 D RGD:152995353|PMID:27869168 20220615 RGD Human cells in mouse model 2325430 Mir127 microRNA 127 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1344992 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325430 Mir127 microRNA 127 gene DOID:684 hepatocellular carcinoma ISO RGD:1344992 D RGD:152995355|PMID:24854842 20220615 RGD miRNA:decreased expression:liver (human) 2325430 Mir127 microRNA 127 gene DOID:9005172 Lung Neoplasms ISO RGD:1344992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325430 Mir127 microRNA 127 gene DOID:9007787 Carcinoid Tumor ISO RGD:1344992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325430 Mir127 microRNA 127 gene DOID:9008939 Breast Neoplasms ISO RGD:1344992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325430 Mir127 microRNA 127 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344992 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325431 Mir99b microRNA 99b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325431 Mir99b microRNA 99b gene DOID:6000 congestive heart failure ISO RGD:1351824 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325431 Mir99b microRNA 99b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325431 Mir99b microRNA 99b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1351824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325431 Mir99b microRNA 99b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1351824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325431 Mir99b microRNA 99b gene DOID:9004610 Acute Lung Injury ISO RGD:1351824 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:33109608 2325431 Mir99b microRNA 99b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325432 Mir34b microRNA 34b gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1352034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 2325432 Mir34b microRNA 34b gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1352034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 2325432 Mir34b microRNA 34b gene DOID:1059 intellectual disability ISO RGD:1352034 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325432 Mir34b microRNA 34b gene DOID:11054 urinary bladder cancer ISO RGD:1352034 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325432 Mir34b microRNA 34b gene DOID:12704 ataxia telangiectasia ISO RGD:1352034 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2325432 Mir34b microRNA 34b gene DOID:14330 Parkinson's disease ISO RGD:1352034 D RGD:10755477|PMID:21558425 20160129 RGD 2325432 Mir34b microRNA 34b gene DOID:2671 transitional cell carcinoma ISO RGD:1352034 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325432 Mir34b microRNA 34b gene DOID:9000918 Disease Progression ISO RGD:1352034 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325432 Mir34b microRNA 34b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325432 Mir34b microRNA 34b gene DOID:9002170 Experimental Neoplasms ISO RGD:1352034 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22113133 2325432 Mir34b microRNA 34b gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352034 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2325432 Mir34b microRNA 34b gene DOID:9005172 Lung Neoplasms ISO RGD:1352034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21339737|PMID:25105010 2325432 Mir34b microRNA 34b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 2325432 Mir34b microRNA 34b gene DOID:9007787 Carcinoid Tumor ISO RGD:1352034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325432 Mir34b microRNA 34b gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1352034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 2325433 Mir19b1 microRNA 19b-1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346116 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 2325433 Mir19b1 microRNA 19b-1 gene DOID:14330 Parkinson's disease ISO RGD:1346116 D RGD:10755479|PMID:22003392 20160129 RGD 2325433 Mir19b1 microRNA 19b-1 gene DOID:9256 colorectal cancer ISO RGD:1346116 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325434 Mir9 microRNA 9 gene DOID:9351 diabetes mellitus exacerbates IDA D RGD:243065126|PMID:32544883 20230411 RGD RNA:increased expression:sciatic nerve: 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:10652 Alzheimer's disease ISO RGD:1345563 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:12365 malaria treatment ISO RGD:1607642 D RGD:35673288|PMID:28123381 20200710 RGD 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:14250 Down syndrome ISO RGD:1345563 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:2043 hepatitis B ISO RGD:1345563 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345563 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:22289550|REF_RGD_ID:14695021 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345563 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345563 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325435 Mirlet7c1 microRNA let-7c-1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345563 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24704393 2325436 Mir324 microRNA 324 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1343418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325436 Mir324 microRNA 324 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325436 Mir324 microRNA 324 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325437 Mir665 microRNA 665 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2290240 D RGD:8554872 20181003 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325437 Mir665 microRNA 665 gene DOID:3908 lung non-small cell carcinoma ISO RGD:2290240 D RGD:151361291|PMID:32269632 20220302 RGD 2325437 Mir665 microRNA 665 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:2290240 D RGD:151361291|PMID:32269632 20220302 RGD associated with metastasis; mRNA:increased expression:lung (human) 2325437 Mir665 microRNA 665 gene DOID:684 hepatocellular carcinoma ISO RGD:2290240 D RGD:151361293|PMID:30237408 20220302 RGD associated with metastasis; human cells in mouse model 2325437 Mir665 microRNA 665 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:2290240 D RGD:151361293|PMID:30237408 20220302 RGD mRNA:increased expression:liver (human) 2325437 Mir665 microRNA 665 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2290240 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325439 Mir652 microRNA 652 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1601677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325439 Mir652 microRNA 652 gene DOID:12849 autistic disorder ISO RGD:1601677 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325439 Mir652 microRNA 652 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1601677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325446 Mir363 microRNA 363 gene DOID:12849 autistic disorder ISO RGD:1604875 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325450 Mir431 microRNA 431 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1604871 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325450 Mir431 microRNA 431 gene DOID:1324 lung cancer ISO RGD:1608188 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325450 Mir431 microRNA 431 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1604871 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325450 Mir431 microRNA 431 gene DOID:9002170 Experimental Neoplasms ISO RGD:1604871 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325451 Mir221 microRNA 221 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1349484 D RGD:151708999|PMID:21226887 20220419 RGD 2325451 Mir221 microRNA 221 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349484 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325451 Mir221 microRNA 221 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1349484 D RGD:151709001|PMID:22267590 20220419 RGD 2325451 Mir221 microRNA 221 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1608224 D RGD:18337274|PMID:30316865 20200120 RGD 2325451 Mir221 microRNA 221 gene DOID:10534 stomach cancer ISO RGD:1349484 D RGD:151709006|PMID:30880765 20220419 RGD RNA:increased expression:plasma 2325451 Mir221 microRNA 221 gene DOID:11054 urinary bladder cancer ISO RGD:1349484 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2325451 Mir221 microRNA 221 gene DOID:11446 sciatic neuropathy IEP D RGD:11041067|PMID:22393241 20220426 RGD RNA:increased expression:sciatic nerve: 2325451 Mir221 microRNA 221 gene DOID:12849 autistic disorder ISO RGD:1349484 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325451 Mir221 microRNA 221 gene DOID:1612 breast cancer IEP D RGD:152025189|PMID:32157513 20220428 RGD RNA:increased expression:serum, thoracic lymph node,breast 2325451 Mir221 microRNA 221 gene DOID:3963 thyroid gland carcinoma ISO RGD:1349484 D RGD:152023739|PMID:16728577 20220427 RGD RNA:increased expression:thyroid gland 2325451 Mir221 microRNA 221 gene DOID:3963 thyroid gland carcinoma ISO RGD:1608224 D RGD:152023739|PMID:16728577 20220427 RGD RNA:increased expression:thyroid gland 2325451 Mir221 microRNA 221 gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:1349484 D RGD:14928335|PMID:27685844 20190917 RGD 2325451 Mir221 microRNA 221 gene DOID:5082 liver cirrhosis ISO RGD:1608224 D RGD:151709001|PMID:22267590 20220419 RGD RNA:increased expression:liver 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349484 D RGD:11086123|PMID:25817558 20200117 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349484 D RGD:18337267|PMID:29713162 20200117 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:151893509|PMID:31801250 20220422 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:18337275|PMID:28096271 20200120 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1349484 D RGD:18337267|PMID:29713162 20200117 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1349484 D RGD:18337273|PMID:22009537 20200120 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1349484 D RGD:18337275|PMID:28096271 20200120 RGD 2325451 Mir221 microRNA 221 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1608224 D RGD:18337275|PMID:28096271 20200120 RGD 2325451 Mir221 microRNA 221 gene DOID:83 cataract ISO RGD:1349484 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30926320 2325451 Mir221 microRNA 221 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325451 Mir221 microRNA 221 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325451 Mir221 microRNA 221 gene DOID:9001820 Pulmonary Arterial Hypertension IEP D RGD:151356920|PMID:28694128 20220216 RGD RNA:increased expression:lung,pulmonary artery smooth muscle cell 2325451 Mir221 microRNA 221 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349484 D RGD:151356920|PMID:28694128 20220216 RGD RNA:increased expression:lung,pulmonary artery smooth muscle cell 2325451 Mir221 microRNA 221 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates IMP D RGD:151356920|PMID:28694128 20220216 RGD 2325451 Mir221 microRNA 221 gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1349484 D RGD:18337269|PMID:29255073 20200117 RGD associated with dilated cardiomyopathy; 2325451 Mir221 microRNA 221 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349484 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325451 Mir221 microRNA 221 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1608224 D RGD:18337268|PMID:21400558 20200117 RGD 2325451 Mir221 microRNA 221 gene DOID:9005968 Neuralgia treatment IMP D RGD:151347419|PMID:27059231 20220120 RGD 2325451 Mir221 microRNA 221 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349484 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325451 Mir221 microRNA 221 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325451 Mir221 microRNA 221 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1349484 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 2325451 Mir221 microRNA 221 gene DOID:9008939 Breast Neoplasms ISO RGD:1349484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325451 Mir221 microRNA 221 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349484 D RGD:151709005|PMID:21132270 20220419 RGD 2325451 Mir221 microRNA 221 gene DOID:9256 colorectal cancer ISO RGD:1349484 D RGD:151708745|PMID:24931456 20220418 RGD RNA:increased expression:colorectum 2325451 Mir221 microRNA 221 gene DOID:9256 colorectal cancer ISO RGD:1349484 D RGD:153002793|PMID:23322774 20220720 RGD miRNA:increased expression:colorectum (human) 2325451 Mir221 microRNA 221 gene DOID:9351 diabetes mellitus IEP D RGD:152025220|PMID:32194220 20220429 RGD RNA:increased expression:mandible 2325451 Mir221 microRNA 221 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349484 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325452 Mir203 microRNA 203 gene DOID:9256 colorectal cancer HEP D RGD:153002793|PMID:23322774 20220720 RGD miRNA:increased expression:colorectum (human) 2325453 Mir190 microRNA 190 gene DOID:13580 cholestasis ISO RGD:1347802 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325453 Mir190 microRNA 190 gene DOID:2043 hepatitis B ISO RGD:1347802 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325453 Mir190 microRNA 190 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347802 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21750348 2325455 Mir150 microRNA 150 gene DOID:0060180 colitis ISO RGD:1342949 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 2325455 Mir150 microRNA 150 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1342949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 2325455 Mir150 microRNA 150 gene DOID:13250 diarrhea ISO RGD:1342949 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 2325455 Mir150 microRNA 150 gene DOID:4989 pancreatitis ISO RGD:1342949 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325455 Mir150 microRNA 150 gene DOID:552 pneumonia ISO RGD:1342949 D RGD:11554173 20211207 CTD CTD Direct Evidence: therapeutic PMID:29205062 2325455 Mir150 microRNA 150 gene DOID:6000 congestive heart failure ISO RGD:1342949 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325455 Mir150 microRNA 150 gene DOID:684 hepatocellular carcinoma ISO RGD:1342949 D RGD:153344577|PMID:30205391 20220829 RGD mRNA:decreased expression:liver (human) 2325455 Mir150 microRNA 150 gene DOID:8552 chronic myeloid leukemia ISO RGD:1342949 D RGD:13782140|PMID:21501493 20180822 RGD miRNA:decreased expression:leukocytes 2325455 Mir150 microRNA 150 gene DOID:9001865 Myeloid Leukemia, Accelerated Phase ISO RGD:1342949 D RGD:13782140|PMID:21501493 20180822 RGD miRNA:decreased expression:leukocytes 2325455 Mir150 microRNA 150 gene DOID:9002473 Blast Crisis ISO RGD:1342949 D RGD:13782140|PMID:21501493 20180822 RGD miRNA:decreased expression:leukocytes 2325455 Mir150 microRNA 150 gene DOID:9005091 Lentivirus Infections ISO RGD:1342949 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 2325455 Mir150 microRNA 150 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342949 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325455 Mir150 microRNA 150 gene DOID:9256 colorectal cancer ISO RGD:1342949 D RGD:153344558|PMID:23758639 20220825 RGD RNA:decreased expression:colorectum (human) 2325455 Mir150 microRNA 150 gene DOID:9452 fatty liver disease ISO RGD:1342949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325457 Mir125b1 microRNA 125b-1 gene DOID:5419 schizophrenia ISO RGD:1352829 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325457 Mir125b1 microRNA 125b-1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352829 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2325457 Mir125b1 microRNA 125b-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352829 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325457 Mir125b1 microRNA 125b-1 gene DOID:9007661 Dwarfism ISO RGD:1352829 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2325457 Mir125b1 microRNA 125b-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352829 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325458 Mir124-3 microRNA 124-3 gene DOID:10652 Alzheimer's disease ISO RGD:1607572 D RGD:11554173 20181009 CTD CTD Direct Evidence: therapeutic PMID:28867212 2325458 Mir124-3 microRNA 124-3 gene DOID:8927 learning disability ISO RGD:1607572 D RGD:11554173 20181009 CTD CTD Direct Evidence: therapeutic PMID:28867212 2325459 Mir93 microRNA 93 gene DOID:11054 urinary bladder cancer ISO RGD:1344413 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2325459 Mir93 microRNA 93 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1344413 D RGD:9068941 20230202 RGD miRNA:increased expression:vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 2325459 Mir93 microRNA 93 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1344413 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325459 Mir93 microRNA 93 gene DOID:3347 osteosarcoma ISO RGD:1344413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 2325459 Mir93 microRNA 93 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344413 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325459 Mir93 microRNA 93 gene DOID:6000 congestive heart failure ISO RGD:1344413 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325459 Mir93 microRNA 93 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042853|PMID:27298561 20191217 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 2325459 Mir93 microRNA 93 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15042900|PMID:28592130 20191217 RGD miRNA:increased expression:liver (human) 2325459 Mir93 microRNA 93 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344413 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325459 Mir93 microRNA 93 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 2325459 Mir93 microRNA 93 gene DOID:9256 colorectal cancer ISO RGD:1344413 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325460 Mir30e microRNA 30e gene DOID:557 kidney disease ISO RGD:1354313 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 2325460 Mir30e microRNA 30e gene DOID:9000784 Fibrosis ISO RGD:1354313 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 2325460 Mir30e microRNA 30e gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325460 Mir30e microRNA 30e gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1354313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325460 Mir30e microRNA 30e gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1354313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325460 Mir30e microRNA 30e gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:35673289|PMID:27528406 20200710 RGD RNA:increased expression:plasma 2325460 Mir30e microRNA 30e gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1354313 D RGD:35673289|PMID:27528406 20200710 RGD RNA:increased expression:plasma 2325461 Mir28 microRNA 28 gene DOID:2043 hepatitis B ISO RGD:1342536 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325461 Mir28 microRNA 28 gene DOID:5419 schizophrenia ISO RGD:1342536 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325461 Mir28 microRNA 28 gene DOID:6000 congestive heart failure IEP D RGD:26923905|PMID:29373037 20200512 RGD RNA:increased expression:heart 2325461 Mir28 microRNA 28 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1342536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325462 Mir19a microRNA 19a gene DOID:0110878 holoprosencephaly 5 ISO RGD:1347994 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 2325462 Mir19a microRNA 19a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347994 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325462 Mir19a microRNA 19a gene DOID:3525 middle cerebral artery infarction ISO RGD:1608165 D RGD:156451661|PMID:32335212 20230310 RGD RNA:decreased expression:brain (mouse) 2325462 Mir19a microRNA 19a gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1347994 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325462 Mir19a microRNA 19a gene DOID:6000 congestive heart failure ISO RGD:1347994 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325462 Mir19a microRNA 19a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347994 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325462 Mir19a microRNA 19a gene DOID:9003036 Oral Lichen Planus ISO RGD:1347994 D RGD:21081545|PMID:29813046 20200225 RGD 2325462 Mir19a microRNA 19a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347994 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325462 Mir19a microRNA 19a gene DOID:9256 colorectal cancer ISO RGD:1347994 D RGD:9068941 20220722 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325462 Mir19a microRNA 19a gene DOID:9538 multiple myeloma ISO RGD:1347994 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:29687521 2325463 Mir9-3 microRNA 9-3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1345298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 2325463 Mir9-3 microRNA 9-3 gene DOID:2717 Bloom syndrome ISO RGD:1345298 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2325463 Mir9-3 microRNA 9-3 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1345298 D RGD:153344598|PMID:22282464 20220830 RGD DNA:Hypermethylation 2325463 Mir9-3 microRNA 9-3 gene DOID:9256 colorectal cancer ISO RGD:1345298 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2325465 Mir345 microRNA 345 gene DOID:3770 pulmonary fibrosis ISO RGD:1343414 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325465 Mir345 microRNA 345 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1343414 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325465 Mir345 microRNA 345 gene DOID:5082 liver cirrhosis ISO RGD:1343414 D RGD:11554173 20230516 CTD CTD Direct Evidence: therapeutic PMID:36126797 2325465 Mir345 microRNA 345 gene DOID:657 adenoma ISO RGD:1343414 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325465 Mir345 microRNA 345 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343414 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325465 Mir345 microRNA 345 gene DOID:9008939 Breast Neoplasms ISO RGD:1343414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325466 Mir339 microRNA 339 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325466 Mir339 microRNA 339 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1345058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325466 Mir339 microRNA 339 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345058 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325467 Mir322 microRNA 322 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353446 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325467 Mir322 microRNA 322 gene DOID:12849 autistic disorder ISO RGD:1353446 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325467 Mir322 microRNA 322 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353446 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 2325467 Mir322 microRNA 322 gene DOID:9000918 Disease Progression ISO RGD:1353446 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 2325467 Mir322 microRNA 322 gene DOID:9001542 Albuminuria ISO RGD:1353446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 2325468 Mir711 microRNA 711 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:3497324 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive PMID:28492532 2325468 Mir711 microRNA 711 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:3497324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica PMID:25741868|PMID:28492532 2325477 Mir875 microRNA 875 gene DOID:0111590 Cohen syndrome ISO RGD:2290245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:15141358|PMID:16648375|PMID:20461111|PMID:28492532 2325477 Mir875 microRNA 875 gene DOID:13580 cholestasis ISO RGD:2290245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325478 Mir802 microRNA 802 gene DOID:14250 Down syndrome ISO RGD:2290261 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 2325478 Mir802 microRNA 802 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:2290261 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 2325480 Mir628 microRNA 628 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602925 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325481 Mir544 microRNA 544 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606047 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325481 Mir544 microRNA 544 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2314093 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325482 Mir504 microRNA 504 gene DOID:12849 autistic disorder ISO RGD:1603434 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325484 Mir1224 microRNA 1224 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:2312874 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 2325484 Mir1224 microRNA 1224 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:2312874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 2325484 Mir1224 microRNA 1224 gene DOID:0111546 Currarino syndrome ISO RGD:2312874 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 2325487 Mir488 microRNA 488 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1603781 D RGD:151356992|PMID:32271408 20220222 RGD mRNA:decreased expression:ovary (human) 2325487 Mir488 microRNA 488 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1603781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325488 Mir92b microRNA 92b gene DOID:0060071 pre-malignant neoplasm ISO RGD:2312875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325488 Mir92b microRNA 92b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2312875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325488 Mir92b microRNA 92b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:2312875 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325488 Mir92b microRNA 92b gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312875 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325489 Mir760 microRNA 760 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2290208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325490 Mir743a microRNA 743a gene DOID:9007838 Myocardial Reperfusion Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325494 Mir671 microRNA 671 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:2290267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 2325494 Mir671 microRNA 671 gene DOID:2843 long QT syndrome ISO RGD:2290267 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 2325494 Mir671 microRNA 671 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:2290267 D RGD:151665171|PMID:30664171 20220315 RGD 2325494 Mir671 microRNA 671 gene DOID:630 genetic disease ISO RGD:2290267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2325494 Mir671 microRNA 671 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2290267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325495 Mir500 microRNA 500 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603437 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325495 Mir500 microRNA 500 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603437 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 2325495 Mir500 microRNA 500 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2325495 Mir500 microRNA 500 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603437 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2325495 Mir500 microRNA 500 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 2325495 Mir500 microRNA 500 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 2325495 Mir500 microRNA 500 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 2325495 Mir500 microRNA 500 gene DOID:12849 autistic disorder ISO RGD:1603437 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325495 Mir500 microRNA 500 gene DOID:657 adenoma ISO RGD:1625973 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325495 Mir500 microRNA 500 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1625973 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325495 Mir500 microRNA 500 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1625973 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325495 Mir500 microRNA 500 gene DOID:9008579 Dent Disease 1 ISO RGD:1603437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 2325499 Mir425 microRNA 425 gene DOID:3770 pulmonary fibrosis ISO RGD:1352547 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325499 Mir425 microRNA 425 gene DOID:657 adenoma ISO RGD:1352547 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325500 Mir411 microRNA 411 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603135 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325500 Mir411 microRNA 411 gene DOID:13580 cholestasis ISO RGD:1603135 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325500 Mir411 microRNA 411 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603135 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325500 Mir411 microRNA 411 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1603135 D RGD:152999437|PMID:30086881 20220719 RGD mRNA:decreased expression:liver (human) 2325500 Mir411 microRNA 411 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13792580|PMID:29738767 20180913 RGD 2325500 Mir411 microRNA 411 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603135 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325501 Mir410 microRNA 410 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603784 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325501 Mir410 microRNA 410 gene DOID:1324 lung cancer ISO RGD:1608191 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325501 Mir410 microRNA 410 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603784 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325501 Mir410 microRNA 410 gene DOID:9005172 Lung Neoplasms ISO RGD:1603784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325501 Mir410 microRNA 410 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325501 Mir410 microRNA 410 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325501 Mir410 microRNA 410 gene DOID:9452 fatty liver disease ISO RGD:1603784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325503 Mir301b microRNA 301b gene DOID:9000217 Stomach Neoplasms ISO RGD:2290237 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35246762 2325503 Mir301b microRNA 301b gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2290237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325503 Mir301b microRNA 301b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2290237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325504 Mir190b microRNA 190b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2290210 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325504 Mir190b microRNA 190b gene DOID:9005091 Lentivirus Infections ISO RGD:2290210 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 2325505 Mir188 microRNA 188 gene DOID:12849 autistic disorder ISO RGD:1352314 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325505 Mir188 microRNA 188 gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:35673289|PMID:27528406 20200710 RGD RNA:increased expression:plasma, kidney 2325505 Mir188 microRNA 188 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1352314 D RGD:35673289|PMID:27528406 20200710 RGD RNA:increased expression:plasma 2325505 Mir188 microRNA 188 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352314 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325505 Mir188 microRNA 188 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325505 Mir188 microRNA 188 gene DOID:9008579 Dent Disease 1 ISO RGD:1352314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:15052463|PMID:7874126|PMID:9328929 2325506 Mir106a microRNA 106a gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353045 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325506 Mir106a microRNA 106a gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1353045 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 2325506 Mir106a microRNA 106a gene DOID:12849 autistic disorder ISO RGD:1353045 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325506 Mir106a microRNA 106a gene DOID:14330 Parkinson's disease ISO RGD:1353045 D RGD:10450788|PMID:25553963 20160129 RGD 2325506 Mir106a microRNA 106a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353045 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325506 Mir106a microRNA 106a gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353045 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:29845714 2325506 Mir106a microRNA 106a gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353045 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20889678 2325506 Mir106a microRNA 106a gene DOID:9256 colorectal cancer ISO RGD:1353045 D RGD:9068941 20220722 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325510 Mir877 microRNA 877 gene DOID:11372 megacolon ISO RGD:2290241 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2325510 Mir877 microRNA 877 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2290241 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27713024 2325510 Mir877 microRNA 877 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:2290241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325511 Mir874 microRNA 874 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2290213 D RGD:11554173 20181225 CTD CTD Direct Evidence: therapeutic PMID:30004169 2325514 Mir499a microRNA 499a gene DOID:2843 long QT syndrome ISO RGD:1603440 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 2325514 Mir499a microRNA 499a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603440 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325516 Mir503 microRNA 503 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603435 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325516 Mir503 microRNA 503 gene DOID:12849 autistic disorder ISO RGD:1603435 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325516 Mir503 microRNA 503 gene DOID:5082 liver cirrhosis ISO RGD:1603435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325516 Mir503 microRNA 503 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325516 Mir503 microRNA 503 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325516 Mir503 microRNA 503 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325516 Mir503 microRNA 503 gene DOID:9452 fatty liver disease ISO RGD:1603435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325517 Mir374b microRNA 374b gene DOID:12849 autistic disorder ISO RGD:2290238 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325517 Mir374b microRNA 374b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:2290238 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325521 Mir381 microRNA 381 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1346769 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325521 Mir381 microRNA 381 gene DOID:11446 sciatic neuropathy IEP D RGD:13838658|PMID:30142543 20190108 RGD RNA:decreased expression:spinal cord 2325521 Mir381 microRNA 381 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1346769 D RGD:13464271|PMID:29287202 20180102 RGD 2325521 Mir381 microRNA 381 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1346769 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325521 Mir381 microRNA 381 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346769 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325521 Mir381 microRNA 381 gene DOID:9002211 Hyperalgesia treatment IDA D RGD:13838658|PMID:30142543 20190108 RGD 2325521 Mir381 microRNA 381 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1346769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325521 Mir381 microRNA 381 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:13825150|PMID:29073721 20181119 RGD RNA:decreased expression:kidney 2325523 Mir494 microRNA 494 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603770 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325523 Mir494 microRNA 494 gene DOID:10534 stomach cancer severity ISO RGD:1603770 D RGD:156430324|PMID:33247701 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:10892 hypospadias ISO RGD:1608177 D RGD:156431051|PMID:32413360 20230302 RGD RNA:increased expression:urethra 2325523 Mir494 microRNA 494 gene DOID:11054 urinary bladder cancer ameliorates ISO RGD:1603770 D RGD:156431053|PMID:36098468 20230302 RGD 2325523 Mir494 microRNA 494 gene DOID:14115 toxic shock syndrome severity ISO RGD:1603770 D RGD:150527846|PMID:30783439 20230223 RGD 2325523 Mir494 microRNA 494 gene DOID:1612 breast cancer ISO RGD:1603770 D RGD:156430322|PMID:28055013 20230224 RGD RNA:decreased expression:breast 2325523 Mir494 microRNA 494 gene DOID:1826 epilepsy ameliorates IDA D RGD:156420143|PMID:32308116 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:3021 acute kidney failure ISO RGD:1603770 D RGD:155883172|PMID:23160513 20230206 RGD RNA:increased expression:urine 2325523 Mir494 microRNA 494 gene DOID:3347 osteosarcoma ameliorates ISO RGD:1603770 D RGD:156430319|PMID:35117781 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:3347 osteosarcoma severity ISO RGD:1603770 D RGD:156430319|PMID:35117781 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:1603770 D RGD:156430321|PMID:24859161 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1603770 D RGD:156430321|PMID:24859161 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1608177 D RGD:155883173|PMID:32239566 20230206 RGD 2325523 Mir494 microRNA 494 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1608177 D RGD:156430320|PMID:31465536 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:3526 cerebral infarction disease_progression ISO RGD:1603770 D RGD:155883173|PMID:32239566 20230206 RGD 2325523 Mir494 microRNA 494 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1603770 D RGD:150530497|PMID:25480402 20211214 RGD mRNA:decreased expression:esophagus 2325523 Mir494 microRNA 494 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603770 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325523 Mir494 microRNA 494 gene DOID:4947 cholangiocarcinoma exacerbates ISO RGD:1603770 D RGD:156420141|PMID:30314946 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1603770 D RGD:156420141|PMID:30314946 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:5199 ureteral obstruction ISO RGD:1608177 D RGD:156420140|PMID:25854542 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1603770 D RGD:11529207|PMID:26090866 20230209 RGD 2325523 Mir494 microRNA 494 gene DOID:6000 congestive heart failure ISO RGD:1603770 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325523 Mir494 microRNA 494 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1603770 D RGD:155900754|PMID:25820676 20230209 RGD 2325523 Mir494 microRNA 494 gene DOID:9000039 Spinal Cord Injuries ameliorates IDA D RGD:156420142|PMID:28601045 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603770 D RGD:156420141|PMID:30314946 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1603770 D RGD:156430319|PMID:35117781 20230224 RGD associated with osteosarcoma; RNA:decreased expression:bone, serum 2325523 Mir494 microRNA 494 gene DOID:9004484 Sepsis ISO RGD:1603770 D RGD:155900762|PMID:31002148 20230215 RGD RNA:decreased expression:plasma 2325523 Mir494 microRNA 494 gene DOID:9004739 Cicatrix ameliorates ISO RGD:1608177 D RGD:155900752|PMID:31069607 20230209 RGD 2325523 Mir494 microRNA 494 gene DOID:9005172 Lung Neoplasms ISO RGD:1603770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325523 Mir494 microRNA 494 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:1608177 D RGD:155883172|PMID:23160513 20230206 RGD 2325523 Mir494 microRNA 494 gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1603770 D RGD:156430321|PMID:24859161 20230224 RGD associated with pancreatic ductal adenocarcinoma; 2325523 Mir494 microRNA 494 gene DOID:9006956 nephrotoxicity ISO RGD:1608177 D RGD:156420140|PMID:25854542 20230215 RGD 2325523 Mir494 microRNA 494 gene DOID:9007096 Stroke severity ISO RGD:1603770 D RGD:156430320|PMID:31465536 20230224 RGD 2325523 Mir494 microRNA 494 gene DOID:9007436 Hypertrophic Cicatrix ISO RGD:1603770 D RGD:155900752|PMID:31069607 20230209 RGD RNA:decreased expression:skin 2325523 Mir494 microRNA 494 gene DOID:9007787 Carcinoid Tumor ISO RGD:1603770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325523 Mir494 microRNA 494 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1608177 D RGD:155883174|PMID:20837890 20230206 RGD 2325523 Mir494 microRNA 494 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1608177 D RGD:155883171|PMID:33982231 20230206 RGD 2325523 Mir494 microRNA 494 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1608177 D RGD:155883174|PMID:20837890 20230206 RGD 2325523 Mir494 microRNA 494 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1603770 D RGD:155900754|PMID:25820676 20230209 RGD associated with hepatocellular carcinoma 2325523 Mir494 microRNA 494 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1603770 D RGD:156430322|PMID:28055013 20230224 RGD 2325525 Mir541 microRNA 541 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:2290246 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325527 Mir133b microRNA 133b gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352188 D RGD:155804298|PMID:30391496 20230116 RGD mRNA:decreased expression:liver(human) 2325528 Mir1 microRNA 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1350943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 2325528 Mir1 microRNA 1 gene DOID:1059 intellectual disability ISO RGD:1350943 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325528 Mir1 microRNA 1 gene DOID:14330 Parkinson's disease ISO RGD:1350943 D RGD:10755488|PMID:21295623 20160129 RGD 2325528 Mir1 microRNA 1 gene DOID:3393 coronary artery disease disease_progression ISO RGD:1350943 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:decreased expression:blood plasma (human) 2325528 Mir1 microRNA 1 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1350943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 2325528 Mir1 microRNA 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:13800564|PMID:29741915 20181016 RGD 2325529 Mir412 microRNA 412 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1603785 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325529 Mir412 microRNA 412 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603785 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325530 Mir224 microRNA 224 gene DOID:0050860 colorectal adenoma ISO RGD:1346129 D RGD:14398749|PMID:25919696 20190426 RGD mRNA:increased expression:colorectal mucosa: 2325530 Mir224 microRNA 224 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2325530 Mir224 microRNA 224 gene DOID:12849 autistic disorder ISO RGD:1346129 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325530 Mir224 microRNA 224 gene DOID:684 hepatocellular carcinoma IEP D RGD:18182921|PMID:23922662 20200110 RGD miRNA:increased expression:liver (human) 2325530 Mir224 microRNA 224 gene DOID:684 hepatocellular carcinoma IEP D RGD:18182922|PMID:22459148 20200110 RGD miRNA:increased expression:liver (human) 2325530 Mir224 microRNA 224 gene DOID:684 hepatocellular carcinoma IEP D RGD:18182923|PMID:23913306 20200110 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 2325530 Mir224 microRNA 224 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:18182924|PMID:24923856 20200110 RGD miRNA:increased expression:liver (human) 2325530 Mir224 microRNA 224 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:18182926|PMID:27462777 20200110 RGD miRNA:increased expression:plasma (human) 2325530 Mir224 microRNA 224 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346129 D RGD:14398749|PMID:25919696 20190426 RGD associated with colorectal cancer; mRNA:decreased expression:colorectal mucosa: 2325530 Mir224 microRNA 224 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325530 Mir224 microRNA 224 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346129 D RGD:14398749|PMID:25919696 20190426 RGD associated with colorectal cancer; mRNA:increased expression:colorectal mucosa: 2325530 Mir224 microRNA 224 gene DOID:9005172 Lung Neoplasms ISO RGD:1346129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325530 Mir224 microRNA 224 gene DOID:9007787 Carcinoid Tumor ISO RGD:1346129 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325530 Mir224 microRNA 224 gene DOID:9256 colorectal cancer ISO RGD:1346129 D RGD:14398749|PMID:25919696 20190426 RGD mRNA:increased expression:colorectal mucosa: 2325530 Mir224 microRNA 224 gene DOID:9256 colorectal cancer ISO RGD:1346129 D RGD:153002793|PMID:23322774 20220720 RGD miRNA:increased expression:colorectum (human) 2325530 Mir224 microRNA 224 gene DOID:9452 fatty liver disease IEP D RGD:18182925|PMID:25386083 20200110 RGD associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) 2325531 Mir215 microRNA 215 gene DOID:10591 pre-eclampsia HEP D RGD:155882496|PMID:25017274 20230125 RGD miRNA:increased expression:blood serum (human) 2325532 Mir361 microRNA 361 gene DOID:12849 autistic disorder ISO RGD:1346686 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325532 Mir361 microRNA 361 gene DOID:13580 cholestasis ISO RGD:1346686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325532 Mir361 microRNA 361 gene DOID:4989 pancreatitis ISO RGD:1346686 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325532 Mir361 microRNA 361 gene DOID:6000 congestive heart failure ISO RGD:1346686 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325532 Mir361 microRNA 361 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346686 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325532 Mir361 microRNA 361 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1346686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325533 Mir383 microRNA 383 gene DOID:3526 cerebral infarction treatment IEP D RGD:35668865|PMID:28469772 20200709 RGD 2325533 Mir383 microRNA 383 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325534 Mir451a microRNA 451a gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603788 D RGD:11558015|PMID:25209900 20161216 RGD RNA:decreased expression:heart 2325534 Mir451a microRNA 451a gene DOID:3770 pulmonary fibrosis ISO RGD:1603788 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34460027 2325534 Mir451a microRNA 451a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603788 D RGD:11554173 20161108 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325535 Mir450a1 microRNA 450a-1 gene DOID:12849 autistic disorder ISO RGD:1605753 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325536 Mir449a microRNA 449a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605754 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325537 Mir429 microRNA 429 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325537 Mir429 microRNA 429 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605756 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 2325537 Mir429 microRNA 429 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1605756 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2325537 Mir429 microRNA 429 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1605756 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2325537 Mir429 microRNA 429 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1605756 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2325537 Mir429 microRNA 429 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325537 Mir429 microRNA 429 gene DOID:0111934 immunodeficiency 38 ISO RGD:1605756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325537 Mir429 microRNA 429 gene DOID:0111935 immunodeficiency 16 ISO RGD:1605756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325537 Mir429 microRNA 429 gene DOID:1612 breast cancer IEP D RGD:152025189|PMID:32157513 20220428 RGD RNA:increased expression:serum, thoracic lymph node, breast 2325537 Mir429 microRNA 429 gene DOID:4989 pancreatitis ISO RGD:1605756 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325537 Mir429 microRNA 429 gene DOID:9000096 Lung Agenesis ISO RGD:1605756 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:33048239 2325537 Mir429 microRNA 429 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1605756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325537 Mir429 microRNA 429 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1605756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325537 Mir429 microRNA 429 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605756 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325537 Mir429 microRNA 429 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1605756 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2325537 Mir429 microRNA 429 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1605756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325537 Mir429 microRNA 429 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325537 Mir429 microRNA 429 gene DOID:9008939 Breast Neoplasms ISO RGD:1605756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325537 Mir429 microRNA 429 gene DOID:9256 colorectal cancer ISO RGD:1605756 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325539 Mir320a microRNA 320a gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1344856 D RGD:155882549|PMID:28684747 20230130 RGD miRNA:decreased expression:blood plasma (human) 2325539 Mir320a microRNA 320a gene DOID:0081013 severe COVID-19 severity ISO RGD:1344856 D RGD:9068941 20230202 RGD miRNA:decreased expression:peripheral blood(human) PMID:34638691|REF_RGD_ID:155882551 2325539 Mir320a microRNA 320a gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1344856 D RGD:9068941 20230202 RGD miRNA:increased expression:blood serum, vitreous humor (human) PMID:24970617|REF_RGD_ID:155882576 2325539 Mir320a microRNA 320a gene DOID:3393 coronary artery disease disease_progression ISO RGD:1344856 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:increased expression:blood plasma (human) 2325539 Mir320a microRNA 320a gene DOID:5844 myocardial infarction treatment ISO RGD:1608214 D RGD:155882541|PMID:19380620 20230127 RGD 2325539 Mir320a microRNA 320a gene DOID:8947 diabetic retinopathy ISO RGD:1344856 D RGD:155882566|PMID:32178730 20230130 RGD miRNA:decreased expression:blood plasma (human) 2325539 Mir320a microRNA 320a gene DOID:9004922 Spinal Cord Ischemia treatment IMP D RGD:155882555|PMID:26092503 20230130 RGD 2325539 Mir320a microRNA 320a gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:155882543|PMID:31089916 20230127 RGD 2325539 Mir320a microRNA 320a gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:155882556|PMID:27760486 20230130 RGD 2325539 Mir320a microRNA 320a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344856 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28545106|PMID:30125006 2325539 Mir320a microRNA 320a gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344856 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325539 Mir320a microRNA 320a gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1344856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 2325539 Mir320a microRNA 320a gene DOID:9007838 Myocardial Reperfusion Injury ameliorates IMP D RGD:155882578|PMID:25268616 20230131 RGD 2325539 Mir320a microRNA 320a gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:155882540|PMID:27175593 20230127 RGD 2325539 Mir320a microRNA 320a gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:155882546|PMID:30840298 20230129 RGD 2325539 Mir320a microRNA 320a gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1608214 D RGD:155882541|PMID:19380620 20230127 RGD 2325539 Mir320a microRNA 320a gene DOID:9408 acute myocardial infarction ISO RGD:1608214 D RGD:155882565|PMID:29990866 20230130 RGD 2325539 Mir320a microRNA 320a gene DOID:9452 fatty liver disease ISO RGD:1344856 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 2325539 Mir320a microRNA 320a gene DOID:9538 multiple myeloma ameliorates ISO RGD:1344856 D RGD:155882577|PMID:27086852 20230131 RGD human gene in mouse model 2325543 Mir223 microRNA 223 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342661 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325543 Mir223 microRNA 223 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342661 D RGD:21408549|PMID:30964207 20200312 RGD RNA:increased expression:liver: 2325543 Mir223 microRNA 223 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1608237 D RGD:21408549|PMID:30964207 20200312 RGD 2325543 Mir223 microRNA 223 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1608237 D RGD:21408547|PMID:31585800 20200312 RGD 2325543 Mir223 microRNA 223 gene DOID:10230 aortic atherosclerosis ISO RGD:1608237 D RGD:25824846|PMID:26065992 20200504 RGD RNA:increased expression:serum,aorta 2325543 Mir223 microRNA 223 gene DOID:10534 stomach cancer ISO RGD:1342661 D RGD:126781705|PMID:29317648 20210415 RGD associated with Helicobacter Infections; mRNA:increased expression:stomach (human) 2325543 Mir223 microRNA 223 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342661 D RGD:21408568|PMID:28931657 20200318 RGD RNA:increased expression:Bronchoalveolar lavage 2325543 Mir223 microRNA 223 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1342661 D RGD:21408577|PMID:28886078 20200320 RGD 2325543 Mir223 microRNA 223 gene DOID:12849 autistic disorder ISO RGD:1342661 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325543 Mir223 microRNA 223 gene DOID:13976 peptic esophagitis IEP D RGD:25824949|PMID:28757556 20200506 RGD RNA:increased expression: esophagus 2325543 Mir223 microRNA 223 gene DOID:1936 atherosclerosis ISO RGD:1342661 D RGD:25824846|PMID:26065992 20200504 RGD RNA:increased expression:serum,artery 2325543 Mir223 microRNA 223 gene DOID:2048 autoimmune hepatitis ISO RGD:1608237 D RGD:21408546|PMID:31826604 20200312 RGD 2325543 Mir223 microRNA 223 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1608237 D RGD:21408563|PMID:29145157 20200317 RGD 2325543 Mir223 microRNA 223 gene DOID:224 transient cerebral ischemia IMP D RGD:25824937|PMID:31237865 20200506 RGD 2325543 Mir223 microRNA 223 gene DOID:2316 brain ischemia treatment IMP D RGD:26884340|PMID:31791013 20200507 RGD 2325543 Mir223 microRNA 223 gene DOID:3393 coronary artery disease treatment ISO RGD:1342661 D RGD:11076984|PMID:25350775 20200323 RGD 2325543 Mir223 microRNA 223 gene DOID:3454 brain infarction IEP D RGD:25824952|PMID:31342956 20200506 RGD RNA:increased expression:brain,blood 2325543 Mir223 microRNA 223 gene DOID:3526 cerebral infarction treatment IEP D RGD:35668865|PMID:28469772 20200709 RGD 2325543 Mir223 microRNA 223 gene DOID:3770 pulmonary fibrosis disease_progression IEP D RGD:25824948|PMID:32329871 20200506 RGD 2325543 Mir223 microRNA 223 gene DOID:3875 thrombophlebitis IMP D RGD:26884338|PMID:32141571 20200507 RGD 2325543 Mir223 microRNA 223 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1342661 D RGD:21408562|PMID:29615147 20200317 RGD 2325543 Mir223 microRNA 223 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342661 D RGD:21408562|PMID:29615147 20200317 RGD 2325543 Mir223 microRNA 223 gene DOID:5082 liver cirrhosis ISO RGD:1342661 D RGD:21408574|PMID:28646120 20200320 RGD RNA:altered expression:serum,liver 2325543 Mir223 microRNA 223 gene DOID:5082 liver cirrhosis ISO RGD:1342661 D RGD:21408580|PMID:25391771 20200323 RGD associated with Chronic HepatitisC; RNA:decreased expression:serum: 2325543 Mir223 microRNA 223 gene DOID:5082 liver cirrhosis ISO RGD:1342661 D RGD:21408583|PMID:24595450 20200323 RGD associated with Chronic Hepatitis B; RNA:decreased expression:serum: 2325543 Mir223 microRNA 223 gene DOID:5082 liver cirrhosis severity ISO RGD:1342661 D RGD:21408569|PMID:28211229 20200318 RGD associated with Chronic Hepatitis C; 2325543 Mir223 microRNA 223 gene DOID:5844 myocardial infarction IEP D RGD:21408565|PMID:29608885 20200317 RGD RNA:increased expression:heart 2325543 Mir223 microRNA 223 gene DOID:6432 pulmonary hypertension ISO RGD:1342661 D RGD:25824847|PMID:26084306 20200504 RGD RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle 2325543 Mir223 microRNA 223 gene DOID:6432 pulmonary hypertension treatment IDA D RGD:25824847|PMID:26084306 20200504 RGD 2325543 Mir223 microRNA 223 gene DOID:6432 pulmonary hypertension treatment IDA D RGD:25824849|PMID:30507047 20200504 RGD 2325543 Mir223 microRNA 223 gene DOID:6432 pulmonary hypertension treatment IEP D RGD:25823198|PMID:30246291 20200504 RGD Chronic Intermittent Hypoxia 2325543 Mir223 microRNA 223 gene DOID:684 hepatocellular carcinoma ISO RGD:1342661 D RGD:21408580|PMID:25391771 20200323 RGD associated with Chronic HepatitisC; RNA:decreased expression:serum: 2325543 Mir223 microRNA 223 gene DOID:684 hepatocellular carcinoma ISO RGD:1342661 D RGD:21408583|PMID:24595450 20200323 RGD associated with Chronic Hepatitis B; RNA:decreased expression:serum: 2325543 Mir223 microRNA 223 gene DOID:684 hepatocellular carcinoma ISO RGD:1342661 D RGD:21408591|PMID:21229610 20200323 RGD RNA:increased expression:serum: 2325543 Mir223 microRNA 223 gene DOID:684 hepatocellular carcinoma ISO RGD:1608237 D RGD:21408549|PMID:30964207 20200312 RGD associated with high-fat diet, 2325543 Mir223 microRNA 223 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342661 D RGD:21408578|PMID:28982915 20200320 RGD 2325543 Mir223 microRNA 223 gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1342661 D RGD:21408586|PMID:24680405 20200323 RGD RNA:increased expression:plasma: 2325543 Mir223 microRNA 223 gene DOID:9000808 Hypercholesterolemia ISO RGD:1608237 D RGD:21408582|PMID:25246565 20200323 RGD 2325543 Mir223 microRNA 223 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:1608237 D RGD:21408575|PMID:27679493 20200320 RGD 2325543 Mir223 microRNA 223 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1608237 D RGD:21408545|PMID:32003753 20200312 RGD RNA:increased expression:liver 2325543 Mir223 microRNA 223 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1608237 D RGD:21408548|PMID:31295147 20200312 RGD 2325543 Mir223 microRNA 223 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1608237 D RGD:21408574|PMID:28646120 20200320 RGD RNA:increased expression:serum,liver 2325543 Mir223 microRNA 223 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1608237 D RGD:13831297|PMID:19104939 20181220 RGD RNA:increased expression:liver 2325543 Mir223 microRNA 223 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1608237 D RGD:21408574|PMID:28646120 20200320 RGD RNA:increased expression:serum,liver 2325543 Mir223 microRNA 223 gene DOID:9002331 Knee Osteoarthritis IEP D RGD:25824950|PMID:30106113 20200506 RGD RNA:increased expression:synovial membrane 2325543 Mir223 microRNA 223 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1342661 D RGD:21408589|PMID:24330517 20200323 RGD RNA:increased expression:plasma: 2325543 Mir223 microRNA 223 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1608237 D RGD:21408589|PMID:24330517 20200323 RGD 2325543 Mir223 microRNA 223 gene DOID:9002928 Colonic Neoplasms ISO RGD:1342661 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29660302 2325543 Mir223 microRNA 223 gene DOID:9003139 Cardiac Fibrosis treatment IMP D RGD:25823140|PMID:29689569 20200430 RGD associated with acute myocardial infarction; 2325543 Mir223 microRNA 223 gene DOID:9003936 Cardiomegaly ISO RGD:1608237 D RGD:329322878|PMID:27226563 20230424 RGD 2325543 Mir223 microRNA 223 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1342661 D RGD:21408567|PMID:28864162 20200318 RGD 2325543 Mir223 microRNA 223 gene DOID:9004484 Sepsis ISO RGD:1342661 D RGD:21408586|PMID:24680405 20200323 RGD RNA:increased expression:plasma: 2325543 Mir223 microRNA 223 gene DOID:9004590 Acute Liver Failure ISO RGD:1342661 D RGD:21408574|PMID:28646120 20200320 RGD RNA:increased expression:serum,liver 2325543 Mir223 microRNA 223 gene DOID:9004590 Acute Liver Failure disease_progression ISO RGD:1608237 D RGD:21408585|PMID:25562161 20200323 RGD 2325543 Mir223 microRNA 223 gene DOID:9004610 Acute Lung Injury severity ISO RGD:1608237 D RGD:21408568|PMID:28931657 20200318 RGD 2325543 Mir223 microRNA 223 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:26884341|PMID:32226458 20200507 RGD 2325543 Mir223 microRNA 223 gene DOID:9005968 Neuralgia treatment IDA D RGD:25824768|PMID:28580822 20200504 RGD 2325543 Mir223 microRNA 223 gene DOID:9006086 Intervertebral Disc Displacement disease_progression ISO RGD:1342661 D RGD:25823200|PMID:28460630 20200504 RGD 2325543 Mir223 microRNA 223 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:25824846|PMID:26065992 20200504 RGD RNA:increased expression:carotid artery 2325543 Mir223 microRNA 223 gene DOID:9006302 Binge Drinking ISO RGD:1342661 D RGD:21408575|PMID:27679493 20200320 RGD RNA:increased expression:serum 2325543 Mir223 microRNA 223 gene DOID:9006302 Binge Drinking ISO RGD:1608237 D RGD:21408575|PMID:27679493 20200320 RGD RNA:increased expression:serum, neutrophil,liver 2325543 Mir223 microRNA 223 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1342661 D RGD:21408566|PMID:28846828 20200318 RGD associated with colorectal cancer; 2325543 Mir223 microRNA 223 gene DOID:9006741 Acute Hepatitis treatment ISO RGD:1608237 D RGD:21408547|PMID:31585800 20200312 RGD 2325543 Mir223 microRNA 223 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608237 D RGD:21408574|PMID:28646120 20200320 RGD RNA:increased expression:serum,liver 2325543 Mir223 microRNA 223 gene DOID:9007956 Febrile Seizures IEP D RGD:25823138|PMID:30947016 20200430 RGD RNA:decreased expression:hippocampus: 2325543 Mir223 microRNA 223 gene DOID:9007956 Febrile Seizures treatment IDA D RGD:25823138|PMID:30947016 20200430 RGD 2325543 Mir223 microRNA 223 gene DOID:9007980 Sleep Deprivation IEP D RGD:25824951|PMID:30225174 20200506 RGD 2325543 Mir223 microRNA 223 gene DOID:9008691 Liver Injury treatment ISO RGD:1608237 D RGD:11056368|PMID:26598234 20200323 RGD 2325543 Mir223 microRNA 223 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:1342661 D RGD:21408587|PMID:23757351 20200323 RGD 2325543 Mir223 microRNA 223 gene DOID:9256 colorectal cancer ISO RGD:1342661 D RGD:153002793|PMID:23322774 20220720 RGD miRNA:increased expression:colorectum (human) 2325543 Mir223 microRNA 223 gene DOID:9351 diabetes mellitus ISO RGD:1342661 D RGD:14398486|PMID:26717922 20190419 RGD RNA:decreased expression:blood mononuclear cell 2325543 Mir223 microRNA 223 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1608237|RGD:1342661 D RGD:25823139|PMID:31118273 20200430 RGD RNA:increased expression:pancreatic islet 2325543 Mir223 microRNA 223 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:1608237 D RGD:25823139|PMID:31118273 20200430 RGD 2325543 Mir223 microRNA 223 gene DOID:9408 acute myocardial infarction treatment IMP D RGD:25823140|PMID:29689569 20200430 RGD 2325543 Mir223 microRNA 223 gene DOID:9970 obesity ISO RGD:1608237|RGD:1342661 D RGD:25823139|PMID:31118273 20200430 RGD RNA:increased expression:pancreatic islet 2325544 Mir222 microRNA 222 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1352986 D RGD:151708741|PMID:31841247 20220418 RGD 2325544 Mir222 microRNA 222 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1352986 D RGD:151708999|PMID:21226887 20220419 RGD 2325544 Mir222 microRNA 222 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352986 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325544 Mir222 microRNA 222 gene DOID:0080375 gastroesophageal adenocarcinoma disease_progression ISO RGD:1352986 D RGD:151893460|PMID:25429911 20220420 RGD 2325544 Mir222 microRNA 222 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1352986 D RGD:151709001|PMID:22267590 20220419 RGD 2325544 Mir222 microRNA 222 gene DOID:10534 stomach cancer ISO RGD:1352986 D RGD:151709002|PMID:27994199 20220419 RGD RNA:increased expression:stomach 2325544 Mir222 microRNA 222 gene DOID:10534 stomach cancer ISO RGD:1352986 D RGD:151709006|PMID:30880765 20220419 RGD RNA:increased expression:plasma 2325544 Mir222 microRNA 222 gene DOID:11446 sciatic neuropathy IEP D RGD:11041067|PMID:22393241 20220426 RGD RNA:increased expression:sciatic nerve: 2325544 Mir222 microRNA 222 gene DOID:11446 sciatic neuropathy IEP D RGD:151893491|PMID:25484256 20220421 RGD RNA:increased expression:dorsal root ganglion neuron 2325544 Mir222 microRNA 222 gene DOID:11612 polycystic ovary syndrome ISO RGD:1352986 D RGD:151893462|PMID:33230470 20220420 RGD RNA:increased expression:blood 2325544 Mir222 microRNA 222 gene DOID:11612 polycystic ovary syndrome treatment IMP D RGD:151893462|PMID:33230470 20220420 RGD 2325544 Mir222 microRNA 222 gene DOID:12849 autistic disorder ISO RGD:1352986 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325544 Mir222 microRNA 222 gene DOID:12858 Huntington's disease ISO RGD:1608223 D RGD:11041745|PMID:21035445 20160428 RGD down-regulated 2325544 Mir222 microRNA 222 gene DOID:1324 lung cancer ameliorates ISO RGD:1352986 D RGD:151708998|PMID:26909602 20220419 RGD 2325544 Mir222 microRNA 222 gene DOID:1612 breast cancer IEP D RGD:152025189|PMID:32157513 20220428 RGD RNA:increased expression:breast 2325544 Mir222 microRNA 222 gene DOID:3905 lung carcinoma treatment ISO RGD:1608223 D RGD:151893461|PMID:27566197 20220420 RGD 2325544 Mir222 microRNA 222 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352986 D RGD:151708732|PMID:24955421 20220418 RGD 2325544 Mir222 microRNA 222 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352986 D RGD:151708743|PMID:30233216 20220418 RGD 2325544 Mir222 microRNA 222 gene DOID:3963 thyroid gland carcinoma ISO RGD:1352986 D RGD:152023739|PMID:16728577 20220427 RGD RNA:increased expression:thyroid gland 2325544 Mir222 microRNA 222 gene DOID:4043 skeletal muscle cancer IEP D RGD:151893488|PMID:23447020 20220421 RGD RNA:increased expression: triceps surae muscle 2325544 Mir222 microRNA 222 gene DOID:5082 liver cirrhosis ISO RGD:1608223 D RGD:151709001|PMID:22267590 20220419 RGD RNA:increased expression:liver 2325544 Mir222 microRNA 222 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352986 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325544 Mir222 microRNA 222 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352986 D RGD:151709003|PMID:24124720 20220419 RGD 2325544 Mir222 microRNA 222 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352986 D RGD:151709004|PMID:20103675 20220419 RGD 2325544 Mir222 microRNA 222 gene DOID:8440 ileus treatment IEP D RGD:151893492|PMID:30852906 20220421 RGD 2325544 Mir222 microRNA 222 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1352986 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34862716 2325544 Mir222 microRNA 222 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325544 Mir222 microRNA 222 gene DOID:9001581 Constipation IEP D RGD:152025536|PMID:33792838 20220504 RGD RNA:increased expression:colon 2325544 Mir222 microRNA 222 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1608223 D RGD:151893489|PMID:27614440 20220421 RGD 2325544 Mir222 microRNA 222 gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1352986 D RGD:18337269|PMID:29255073 20220427 RGD associated with dilated cardiomyopathy; 2325544 Mir222 microRNA 222 gene DOID:9003370 Dyslipidemias ISO RGD:1352986 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34862716 2325544 Mir222 microRNA 222 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352986 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325544 Mir222 microRNA 222 gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression IEP D RGD:152023731|PMID:22078298 20220427 RGD 2325544 Mir222 microRNA 222 gene DOID:9005172 Lung Neoplasms ISO RGD:1352986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325544 Mir222 microRNA 222 gene DOID:9005873 Tongue Neoplasms ISO RGD:1352986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325544 Mir222 microRNA 222 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352986 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325544 Mir222 microRNA 222 gene DOID:9007692 Insulin Resistance ISO RGD:1352986 D RGD:151893462|PMID:33230470 20220420 RGD associated with polycystic ovary syndrome; RNA:increased expression:blood 2325544 Mir222 microRNA 222 gene DOID:9007787 Carcinoid Tumor ISO RGD:1352986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325544 Mir222 microRNA 222 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1608223 D RGD:152025190|PMID:25863248 20220428 RGD 2325544 Mir222 microRNA 222 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1352986 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 2325544 Mir222 microRNA 222 gene DOID:9008114 Helicobacter Infections ISO RGD:1352986 D RGD:151708731|PMID:29227536 20220418 RGD associated with stomach cancer;RNA:increased expression:stomach: 2325544 Mir222 microRNA 222 gene DOID:9008763 Femoral Fractures ameliorates IMP D RGD:151893485|PMID:27545451 20220421 RGD 2325544 Mir222 microRNA 222 gene DOID:9008763 Femoral Fractures disease_progression IEP D RGD:151893486|PMID:31691506 20220421 RGD 2325544 Mir222 microRNA 222 gene DOID:9008939 Breast Neoplasms ISO RGD:1352986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325544 Mir222 microRNA 222 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352986 D RGD:151709005|PMID:21132270 20220419 RGD 2325544 Mir222 microRNA 222 gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:1352986 D RGD:151709007|PMID:30983504 20220419 RGD DNA:SNP: :rs75246947 (human) 2325544 Mir222 microRNA 222 gene DOID:9256 colorectal cancer ISO RGD:1352986 D RGD:151708745|PMID:24931456 20220418 RGD RNA:increased expression:colorectum 2325544 Mir222 microRNA 222 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352986 D RGD:151708742|PMID:31400607 20220418 RGD 2325544 Mir222 microRNA 222 gene DOID:9261 nasopharynx carcinoma ISO RGD:1352986 D RGD:151708744|PMID:29115464 20220418 RGD RNA:increased expression:nasopharynx 2325544 Mir222 microRNA 222 gene DOID:9351 diabetes mellitus IEP D RGD:152025220|PMID:32194220 20220429 RGD RNA:increased expression:mandible 2325544 Mir222 microRNA 222 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:151893486|PMID:31691506 20220421 RGD associated with Femoral Fractures;RNA:increased expression:femur 2325544 Mir222 microRNA 222 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352986 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399|PMID:28545106 2325545 Mir219a1 microRNA 219a-1 gene DOID:0050553 JMP syndrome ISO RGD:1351642 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2325545 Mir219a1 microRNA 219a-1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351642 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 2325545 Mir219a1 microRNA 219a-1 gene DOID:9452 fatty liver disease ISO RGD:1351642 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325546 Mir218-2 microRNA 218-2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347035 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 2325546 Mir218-2 microRNA 218-2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1347035 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 2325547 Mir217 microRNA 217 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345644 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25538231 2325547 Mir217 microRNA 217 gene DOID:4989 pancreatitis ISO RGD:1345644 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325547 Mir217 microRNA 217 gene DOID:9000784 Fibrosis ISO RGD:1345644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26891083 2325547 Mir217 microRNA 217 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25538231 2325547 Mir217 microRNA 217 gene DOID:9005372 Inflammation ISO RGD:1345644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26891083 2325547 Mir217 microRNA 217 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325548 Mir214 microRNA 214 gene DOID:1073 renal hypertension ameliorates IMP D RGD:38500245|PMID:30049682 20230518 RGD 2325548 Mir214 microRNA 214 gene DOID:10763 hypertension ISO RGD:1347052 D RGD:38500245|PMID:30049682 20230518 RGD RNA:increased expression:kidney 2325548 Mir214 microRNA 214 gene DOID:10763 hypertension treatment IMP D RGD:38500245|PMID:30049682 20200929 RGD 2325548 Mir214 microRNA 214 gene DOID:11294 arteriovenous malformation ISO RGD:1347052 D RGD:155582214|PMID:23051042 20221013 RGD miRNA:increased expression:blood plasma (human) 2325548 Mir214 microRNA 214 gene DOID:1540 parathyroid carcinoma ISO RGD:1347052 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2325548 Mir214 microRNA 214 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347052 D RGD:11554173 20220118 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 2325548 Mir214 microRNA 214 gene DOID:3393 coronary artery disease ISO RGD:1347052 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:increased expression:blood plasma (human) 2325548 Mir214 microRNA 214 gene DOID:4989 pancreatitis ISO RGD:1347052 D RGD:11554173 20220118 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325548 Mir214 microRNA 214 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 2325548 Mir214 microRNA 214 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:38549580|PMID:30287503 20200902 RGD 2325548 Mir214 microRNA 214 gene DOID:9002721 Hypertensive Nephrosclerosis ISO RGD:1347052 D RGD:38500245|PMID:30049682 20230518 RGD RNA:increased expression:kidney 2325548 Mir214 microRNA 214 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347052 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 2325548 Mir214 microRNA 214 gene DOID:9008939 Breast Neoplasms ISO RGD:1347052 D RGD:11554173 20220118 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325548 Mir214 microRNA 214 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347052 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2325548 Mir214 microRNA 214 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347052 D RGD:11554173 20220118 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325549 Mir211 microRNA 211 gene DOID:0060041 autism spectrum disorder ISO RGD:1344448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 2325549 Mir211 microRNA 211 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344448 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325549 Mir211 microRNA 211 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344448 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 2325549 Mir211 microRNA 211 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1344448 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:25741868 2325549 Mir211 microRNA 211 gene DOID:12849 autistic disorder ISO RGD:1344448 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325549 Mir211 microRNA 211 gene DOID:5419 schizophrenia ISO RGD:1344448 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2325549 Mir211 microRNA 211 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344448 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325549 Mir211 microRNA 211 gene DOID:9256 colorectal cancer ISO RGD:1344448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 2325550 Mir206 microRNA 206 gene DOID:10487 Hirschsprung's disease ISO RGD:1352988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25792468 2325550 Mir206 microRNA 206 gene DOID:10534 stomach cancer ameliorates ISO RGD:1352988 D RGD:151665333|PMID:23348698 20220321 RGD 2325550 Mir206 microRNA 206 gene DOID:10534 stomach cancer disease_progression ISO RGD:1352988 D RGD:151665106|PMID:25960238 20220310 RGD 2325550 Mir206 microRNA 206 gene DOID:1574 alcohol use disorder onset IEP D RGD:35673317|PMID:32135570 20200713 RGD 2325550 Mir206 microRNA 206 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352988 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:22975021|PMID:27538595 2325550 Mir206 microRNA 206 gene DOID:9000918 Disease Progression ISO RGD:1352988 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:27538595 2325550 Mir206 microRNA 206 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325550 Mir206 microRNA 206 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325550 Mir206 microRNA 206 gene DOID:9008939 Breast Neoplasms ISO RGD:1352988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325551 Mir204 microRNA 204 gene DOID:10591 pre-eclampsia ISO RGD:1346904 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 2325551 Mir204 microRNA 204 gene DOID:2043 hepatitis B ISO RGD:1346904 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325551 Mir204 microRNA 204 gene DOID:6432 pulmonary hypertension ISO RGD:1346904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26224795 2325551 Mir204 microRNA 204 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1346904 D RGD:7240710 20160120 OMIM 2325551 Mir204 microRNA 204 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1346904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract PMID:26056285|PMID:28492532 2325551 Mir204 microRNA 204 gene DOID:9002955 Nerve Degeneration ISO RGD:1346904 D RGD:11554173 20230516 CTD CTD Direct Evidence: therapeutic PMID:36177783 2325551 Mir204 microRNA 204 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346904 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325552 Mir200b microRNA 200b gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325552 Mir200b microRNA 200b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1343713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325552 Mir200b microRNA 200b gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343713 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 2325552 Mir200b microRNA 200b gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343713 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2325552 Mir200b microRNA 200b gene DOID:0060643 primary sclerosing cholangitis ISO RGD:1343713 D RGD:14928323|PMID:28634212 20190916 RGD RNA:increased expression:liver 2325552 Mir200b microRNA 200b gene DOID:0060643 primary sclerosing cholangitis treatment ISO RGD:1607645 D RGD:14928323|PMID:28634212 20190916 RGD 2325552 Mir200b microRNA 200b gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1607645 D RGD:14928332|PMID:22561871 20190917 RGD induced by nutritional deficiency. 2325552 Mir200b microRNA 200b gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1607645 D RGD:14974031|PMID:20548288 20190918 RGD induced by nutritional deficiency. 2325552 Mir200b microRNA 200b gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343713 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2325552 Mir200b microRNA 200b gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343713 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2325552 Mir200b microRNA 200b gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325552 Mir200b microRNA 200b gene DOID:0111934 immunodeficiency 38 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325552 Mir200b microRNA 200b gene DOID:0111935 immunodeficiency 16 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325552 Mir200b microRNA 200b gene DOID:219 colon cancer ISO RGD:1343713 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) 2325552 Mir200b microRNA 200b gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1343713 D RGD:14928335|PMID:27685844 20190917 RGD RNA:increased expression:liver 2325552 Mir200b microRNA 200b gene DOID:4989 pancreatitis ISO RGD:1343713 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325552 Mir200b microRNA 200b gene DOID:5082 liver cirrhosis treatment ISO RGD:1607645 D RGD:14928323|PMID:28634212 20190916 RGD associated with primary sclerosing cholangitis; 2325552 Mir200b microRNA 200b gene DOID:684 hepatocellular carcinoma ISO RGD:1343713 D RGD:14928318|PMID:26919246 20190916 RGD mRNA:decreased expression:liver 2325552 Mir200b microRNA 200b gene DOID:684 hepatocellular carcinoma ISO RGD:1343713 D RGD:14928322|PMID:28383782 20190916 RGD DNA:hypermethylation:promoter 2325552 Mir200b microRNA 200b gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343713 D RGD:14928322|PMID:28383782 20190916 RGD 2325552 Mir200b microRNA 200b gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343713 D RGD:14928318|PMID:26919246 20190916 RGD 2325552 Mir200b microRNA 200b gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343713 D RGD:14928322|PMID:28383782 20190916 RGD 2325552 Mir200b microRNA 200b gene DOID:7474 malignant pleural mesothelioma ISO RGD:1343713 D RGD:11529530|PMID:26125439 20220830 RGD miRNA:decreased expression:pleura (human) 2325552 Mir200b microRNA 200b gene DOID:9000918 Disease Progression ISO RGD:1343713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 2325552 Mir200b microRNA 200b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325552 Mir200b microRNA 200b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343713 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325552 Mir200b microRNA 200b gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343713 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19839049 2325552 Mir200b microRNA 200b gene DOID:9006618 Liver Metastasis ISO RGD:1343713 D RGD:14928321|PMID:28617555 20190916 RGD associated with colorectal cancer;RNA:increased expression:liver: 2325552 Mir200b microRNA 200b gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343713 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2325552 Mir200b microRNA 200b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21292642 2325552 Mir200b microRNA 200b gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2325552 Mir200b microRNA 200b gene DOID:9008939 Breast Neoplasms ISO RGD:1343713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:20099276 2325553 Mir200c microRNA 200c gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2325553 Mir200c microRNA 200c gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1353057 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 2325553 Mir200c microRNA 200c gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1353057 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 2325553 Mir200c microRNA 200c gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353057 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2325553 Mir200c microRNA 200c gene DOID:0111621 Temtamy syndrome ISO RGD:1353057 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2325553 Mir200c microRNA 200c gene DOID:1686 glaucoma treatment IMP D RGD:155882562|PMID:23272142 20230130 RGD 2325553 Mir200c microRNA 200c gene DOID:3770 pulmonary fibrosis ISO RGD:1353057 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25926378|PMID:29113749 2325553 Mir200c microRNA 200c gene DOID:4989 pancreatitis ISO RGD:1353057 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325553 Mir200c microRNA 200c gene DOID:9000096 Lung Agenesis ISO RGD:1353057 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:33048239 2325553 Mir200c microRNA 200c gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21248297 2325553 Mir200c microRNA 200c gene DOID:9000918 Disease Progression ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 2325553 Mir200c microRNA 200c gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325553 Mir200c microRNA 200c gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19839049 2325553 Mir200c microRNA 200c gene DOID:9006618 Liver Metastasis ISO RGD:1353057 D RGD:14928321|PMID:28617555 20190916 RGD associated with colorectal cancer;RNA:increased expression:liver: 2325553 Mir200c microRNA 200c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325553 Mir200c microRNA 200c gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569286 2325553 Mir200c microRNA 200c gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353057 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2325553 Mir200c microRNA 200c gene DOID:9008939 Breast Neoplasms ISO RGD:1353057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:20099276 2325553 Mir200c microRNA 200c gene DOID:9256 colorectal cancer treatment ISO RGD:1353057 D RGD:13217416|PMID:25205654 20170912 RGD 2325554 Mir194-2 microRNA 194-2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2325554 Mir194-2 microRNA 194-2 gene DOID:1059 intellectual disability ISO RGD:1344358 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325554 Mir194-2 microRNA 194-2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2325554 Mir194-2 microRNA 194-2 gene DOID:2043 hepatitis B ISO RGD:1344358 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325554 Mir194-2 microRNA 194-2 gene DOID:2746 glycogen storage disease V ISO RGD:1344358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2325554 Mir194-2 microRNA 194-2 gene DOID:3070 high grade glioma ISO RGD:1344358 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 2325555 Mir194-1 microRNA 194-1 gene DOID:0050439 Usher syndrome ISO RGD:1348209 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 2325555 Mir194-1 microRNA 194-1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1348209 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 2325555 Mir194-1 microRNA 194-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348209 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2325555 Mir194-1 microRNA 194-1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1348209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 2325555 Mir194-1 microRNA 194-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348209 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28844483 2325555 Mir194-1 microRNA 194-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348209 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2325556 Mir191 microRNA 191 gene DOID:1574 alcohol use disorder onset IEP D RGD:35673317|PMID:32135570 20200713 RGD 2325556 Mir191 microRNA 191 gene DOID:557 kidney disease ISO RGD:1345210 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:31775542 2325556 Mir191 microRNA 191 gene DOID:6000 congestive heart failure ISO RGD:1345210 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325556 Mir191 microRNA 191 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1345210 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 2325556 Mir191 microRNA 191 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1345210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 2325556 Mir191 microRNA 191 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345210 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29277653 2325556 Mir191 microRNA 191 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345210 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325556 Mir191 microRNA 191 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345210 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:22048643|PMID:29277653 2325557 Mir187 microRNA 187 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1343777 D RGD:14390167|PMID:27542258 20190225 RGD RNA:increased expression:plasma 2325557 Mir187 microRNA 187 gene DOID:1059 intellectual disability ISO RGD:1343777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325557 Mir187 microRNA 187 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343777 D RGD:14390167|PMID:27542258 20190225 RGD associated with oral squamous cell carcinoma; RNA:increased expression:plasma 2325558 Mir186 microRNA 186 gene DOID:11054 urinary bladder cancer ISO RGD:1346900 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 2325558 Mir186 microRNA 186 gene DOID:9000918 Disease Progression ISO RGD:1346900 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 2325558 Mir186 microRNA 186 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325558 Mir186 microRNA 186 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1346900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325558 Mir186 microRNA 186 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346900 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 2325558 Mir186 microRNA 186 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1346900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325558 Mir186 microRNA 186 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1346900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325558 Mir186 microRNA 186 gene DOID:9256 colorectal cancer ISO RGD:1346900 D RGD:9068941 20220929 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325559 Mir184 microRNA 184 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1351164 D RGD:152995482|PMID:31874165 20220624 RGD RNA:decreased expression:blood plasma (human) 2325559 Mir184 microRNA 184 gene DOID:2717 Bloom syndrome ISO RGD:1351164 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2325559 Mir184 microRNA 184 gene DOID:4448 macular degeneration ISO RGD:1351164 D RGD:11554173 20221101 CTD CTD Direct Evidence: therapeutic PMID:35690295 2325559 Mir184 microRNA 184 gene DOID:83 cataract ISO RGD:1351164 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 2325559 Mir184 microRNA 184 gene DOID:9002905 EDICT Syndrome ISO RGD:1351164 D RGD:7240710 20140911 OMIM 2325559 Mir184 microRNA 184 gene DOID:9002905 EDICT Syndrome ISO RGD:1351164 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: EDICT syndrome PMID:11874753|PMID:14638698|PMID:21996275|PMID:22131394 2325559 Mir184 microRNA 184 gene DOID:9256 colorectal cancer ISO RGD:1351164 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2325559 Mir184 microRNA 184 gene DOID:9970 obesity ISO RGD:1351164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 2325560 Mir183 microRNA 183 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342756 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325560 Mir183 microRNA 183 gene DOID:4989 pancreatitis ISO RGD:1342756 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325560 Mir183 microRNA 183 gene DOID:5679 retinal disease ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 2325560 Mir183 microRNA 183 gene DOID:9000998 Brain Injuries ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 2325560 Mir183 microRNA 183 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325560 Mir183 microRNA 183 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325560 Mir183 microRNA 183 gene DOID:9006447 Eye Injuries ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 2325560 Mir183 microRNA 183 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325560 Mir183 microRNA 183 gene DOID:9452 fatty liver disease ISO RGD:1342756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325561 Mir181b1 microRNA 181b-1 gene DOID:0060041 autism spectrum disorder ISO RGD:1608166 D RGD:11554173 20190122 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 2325561 Mir181b1 microRNA 181b-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351688 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2325561 Mir181b1 microRNA 181b-1 gene DOID:3963 thyroid gland carcinoma ISO RGD:1351688 D RGD:152023739|PMID:16728577 20220427 RGD RNA:increased expression:thyroid gland 2325561 Mir181b1 microRNA 181b-1 gene DOID:3963 thyroid gland carcinoma ISO RGD:1608166 D RGD:152023739|PMID:16728577 20220427 RGD RNA:increased expression:thyroid gland 2325561 Mir181b1 microRNA 181b-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351688 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2325562 Mir154 microRNA 154 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1343557 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325562 Mir154 microRNA 154 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343557 D RGD:152995475|PMID:25386559 20220623 RGD associated with nicotine dependence; RNA:decreased expression:blood serum (human) 2325562 Mir154 microRNA 154 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1343557 D RGD:152995468|PMID:25846246 20220623 RGD RNA:decreased expression:lung (human) 2325562 Mir154 microRNA 154 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1343557 D RGD:152995466|PMID:30780105 20220623 RGD human cells in mouse model 2325562 Mir154 microRNA 154 gene DOID:3910 lung adenocarcinoma ISO RGD:1343557 D RGD:152995475|PMID:25386559 20220623 RGD associated with nicotine dependence; RNA:decreased expression:blood serum (human) 2325562 Mir154 microRNA 154 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1343557 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325562 Mir154 microRNA 154 gene DOID:684 hepatocellular carcinoma ISO RGD:1343557 D RGD:152995478|PMID:33195697 20220624 RGD RNA:decreased expression:liver (human) 2325562 Mir154 microRNA 154 gene DOID:9005172 Lung Neoplasms ISO RGD:1343557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325562 Mir154 microRNA 154 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325562 Mir154 microRNA 154 gene DOID:9005968 Neuralgia IMP D RGD:152995474|PMID:31746418 20220623 RGD 2325562 Mir154 microRNA 154 gene DOID:9007787 Carcinoid Tumor ISO RGD:1343557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325562 Mir154 microRNA 154 gene DOID:9256 colorectal cancer ISO RGD:1343557 D RGD:152995479|PMID:24242044 20220624 RGD RNA:decreased expression:colorectum (human) 2325562 Mir154 microRNA 154 gene DOID:9256 colorectal cancer severity ISO RGD:1343557 D RGD:152995477|PMID:26048406 20220624 RGD RNA:decreased expression:colorectum (human) 2325562 Mir154 microRNA 154 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1343557 D RGD:152995464|PMID:32214824 20220623 RGD RNA:decreased expression:epithelium of nasopharynx (human) 2325562 Mir154 microRNA 154 gene DOID:9452 fatty liver disease ISO RGD:1343557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325563 Mir153 microRNA 153 gene DOID:12849 autistic disorder ISO RGD:1352876 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325563 Mir153 microRNA 153 gene DOID:5082 liver cirrhosis ISO RGD:1608320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325563 Mir153 microRNA 153 gene DOID:9000998 Brain Injuries IEP D RGD:11576302|PMID:25089700 20170106 RGD 2325564 Mir152 microRNA 152 gene DOID:0080199 colorectal carcinoma ISO RGD:1349588 D RGD:21066329|PMID:21327300 20200207 RGD DNA:hypermethylation 2325564 Mir152 microRNA 152 gene DOID:10283 prostate cancer disease_progression ISO RGD:1349588 D RGD:19165147|PMID:29723452 20200204 RGD miRNA:decreased expression:serum 2325564 Mir152 microRNA 152 gene DOID:10534 stomach cancer ISO RGD:1349588 D RGD:19165151|PMID:20422307 20200204 RGD miRNA:decreased expression:stomach 2325564 Mir152 microRNA 152 gene DOID:10534 stomach cancer ISO RGD:1349588 D RGD:21066330|PMID:25261463 20200207 RGD DNA:SNPs, haplotypes 2325564 Mir152 microRNA 152 gene DOID:10534 stomach cancer disease_progression ISO RGD:1349588 D RGD:19165143|PMID:28427226 20200204 RGD miRNA:decreased expression:stomach 2325564 Mir152 microRNA 152 gene DOID:10591 pre-eclampsia IEP D RGD:21066344|PMID:31114978 20200210 RGD miRNA:increased expression:placenta 2325564 Mir152 microRNA 152 gene DOID:11054 urinary bladder cancer severity ISO RGD:1349588 D RGD:19165141|PMID:30015946 20200204 RGD miRNA:decreased expression:urinary bladder 2325564 Mir152 microRNA 152 gene DOID:11476 osteoporosis IEP D RGD:21066345|PMID:31492082 20200210 RGD miRNA:increased expression:femur 2325564 Mir152 microRNA 152 gene DOID:1324 lung cancer ISO RGD:1349588 D RGD:21066332|PMID:26958084 20200207 RGD miRNA:increased expression:plasma 2325564 Mir152 microRNA 152 gene DOID:1612 breast cancer ISO RGD:1349588 D RGD:21066332|PMID:26958084 20200207 RGD miRNA:increased expression:plasma 2325564 Mir152 microRNA 152 gene DOID:2871 endometrial carcinoma ISO RGD:1349588 D RGD:21066329|PMID:21327300 20200207 RGD DNA:hypermethylation 2325564 Mir152 microRNA 152 gene DOID:3021 acute kidney failure ISO RGD:1349588 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32583487 2325564 Mir152 microRNA 152 gene DOID:4362 cervical cancer ISO RGD:1349588 D RGD:19165142|PMID:30131089 20200204 RGD miRNA:decreased expression:uterine cervix 2325564 Mir152 microRNA 152 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1349588 D RGD:19165148|PMID:28921383 20200204 RGD miRNA:decreased expression:intrahepatic bile duct 2325564 Mir152 microRNA 152 gene DOID:5082 liver cirrhosis ISO RGD:1349588 D RGD:19165153|PMID:31258681 20200204 RGD miRNA:decreased expression:serum 2325564 Mir152 microRNA 152 gene DOID:684 hepatocellular carcinoma ISO RGD:1349588 D RGD:21066331|PMID:26531720 20200207 RGD 2325564 Mir152 microRNA 152 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349588 D RGD:19165146|PMID:30967300 20200204 RGD miRNA:decreased expression:liver 2325564 Mir152 microRNA 152 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349588 D RGD:19165152|PMID:22935141 20200204 RGD associated with breast cancer 2325564 Mir152 microRNA 152 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349588 D RGD:19165145|PMID:23574937 20200204 RGD associated with Castration-Resistant Prostatic Neoplasms 2325564 Mir152 microRNA 152 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:19165153|PMID:31258681 20200204 RGD miRNA:decreased expression:liver 2325564 Mir152 microRNA 152 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1608321 D RGD:19165150|PMID:26257392 20200204 RGD 2325564 Mir152 microRNA 152 gene DOID:9002457 Experimental Arthritis IEP D RGD:21066343|PMID:25194984 20200210 RGD miRNA:decreased exression:synovial membrane of synovial joint 2325564 Mir152 microRNA 152 gene DOID:9002457 Experimental Arthritis ISO RGD:1349588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 2325564 Mir152 microRNA 152 gene DOID:9002676 Cerebral Hemorrhage treatment IDA D RGD:21066340|PMID:31982825 20200210 RGD 2325564 Mir152 microRNA 152 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349588 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325564 Mir152 microRNA 152 gene DOID:9008939 Breast Neoplasms ISO RGD:1349588 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 2325564 Mir152 microRNA 152 gene DOID:9256 colorectal cancer ISO RGD:1349588 D RGD:19165151|PMID:20422307 20200204 RGD miRNA:decreased expression:colorectum 2325564 Mir152 microRNA 152 gene DOID:9256 colorectal cancer ISO RGD:1349588 D RGD:21066332|PMID:26958084 20200207 RGD miRNA:increased expression:plasma 2325564 Mir152 microRNA 152 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349588 D RGD:11341114|PMID:26820128 20200204 RGD miRNA:decreased expression:colorectum 2325564 Mir152 microRNA 152 gene DOID:9256 colorectal cancer treatment ISO RGD:1349588 D RGD:11341114|PMID:26820128 20200204 RGD 2325564 Mir152 microRNA 152 gene DOID:9261 nasopharynx carcinoma ISO RGD:1349588 D RGD:19165149|PMID:28000885 20200204 RGD miRNA:decreased expression:nasopharynx 2325565 Mir145 microRNA 145 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325565 Mir145 microRNA 145 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2325565 Mir145 microRNA 145 gene DOID:0080685 aortic dissection ISO RGD:1353686 D RGD:155260287|PMID:28167124 20220926 RGD miRNA:decreased expression:aorta (human) 2325565 Mir145 microRNA 145 gene DOID:0080685 aortic dissection ISO RGD:1353686 D RGD:155260309|PMID:30787994 20220929 RGD miRNA:decreased expression:aorta (human) 2325565 Mir145 microRNA 145 gene DOID:0080685 aortic dissection severity ISO RGD:1353686 D RGD:155260292|PMID:30900421 20220927 RGD miRNA:decreased expression:aorta (human) 2325565 Mir145 microRNA 145 gene DOID:10763 hypertension ISO RGD:1353686 D RGD:155260305|PMID:23339529 20220929 RGD miRNA:increased expression:artery wall (human) 2325565 Mir145 microRNA 145 gene DOID:10941 intracranial aneurysm ISO RGD:1353686 D RGD:155883158|PMID:30201338 20230201 RGD RNA:decreased expression:serum 2325565 Mir145 microRNA 145 gene DOID:11054 urinary bladder cancer ISO RGD:1353686 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325565 Mir145 microRNA 145 gene DOID:13608 biliary atresia IEP D RGD:15039396|PMID:28902846 20191204 RGD miRNA:decreased expression:liver (human) 2325565 Mir145 microRNA 145 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353686 D RGD:155260298|PMID:30989723 20220927 RGD RNA:decreased expression:thoracic aorta (human) 2325565 Mir145 microRNA 145 gene DOID:1612 breast cancer ISO RGD:1353686 D RGD:153297766|PMID:32104069 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) 2325565 Mir145 microRNA 145 gene DOID:1686 glaucoma ameliorates IMP D RGD:155260301|PMID:34291866 20220928 RGD 2325565 Mir145 microRNA 145 gene DOID:1936 atherosclerosis ameliorates ISO RGD:733604 D RGD:9068941 20220929 RGD PMID:29710501|REF_RGD_ID:155260303 2325565 Mir145 microRNA 145 gene DOID:219 colon cancer ISO RGD:1353686 D RGD:153297766|PMID:32104069 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) 2325565 Mir145 microRNA 145 gene DOID:2671 transitional cell carcinoma ISO RGD:1353686 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325565 Mir145 microRNA 145 gene DOID:3393 coronary artery disease disease_progression ISO RGD:1353686 D RGD:11054026|PMID:25938589 20220929 RGD miRNA:decreased expression:artery wall (human) 2325565 Mir145 microRNA 145 gene DOID:3526 cerebral infarction ISO RGD:1353686 D RGD:155260291|PMID:22370881 20220927 RGD miRNA:increased expression:blood (human) 2325565 Mir145 microRNA 145 gene DOID:3526 cerebral infarction ameliorates ISO RGD:1608328 D RGD:155260295|PMID:26722607 20220927 RGD 2325565 Mir145 microRNA 145 gene DOID:3627 aortic aneurysm disease_progression ISO RGD:1353686 D RGD:155260284|PMID:25465469 20220926 RGD miRNA:increased expression:aorta (human) 2325565 Mir145 microRNA 145 gene DOID:3770 pulmonary fibrosis ISO RGD:1608328 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325565 Mir145 microRNA 145 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20097187 2325565 Mir145 microRNA 145 gene DOID:4001 ovarian carcinoma ISO RGD:1353686 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 2325565 Mir145 microRNA 145 gene DOID:5082 liver cirrhosis IEP D RGD:15039397|PMID:27289031 20191204 RGD miRNA:decreased expression:liver (human) 2325565 Mir145 microRNA 145 gene DOID:5844 myocardial infarction ISO RGD:1353686 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29956747 2325565 Mir145 microRNA 145 gene DOID:5844 myocardial infarction ameliorates IMP D RGD:155260294|PMID:32890431 20220927 RGD 2325565 Mir145 microRNA 145 gene DOID:5844 myocardial infarction treatment ISO RGD:1608328 D RGD:155260296|PMID:30146700 20220927 RGD 2325565 Mir145 microRNA 145 gene DOID:6000 congestive heart failure ISO RGD:1353686 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325565 Mir145 microRNA 145 gene DOID:6000 congestive heart failure disease_progression IEP D RGD:155260283|PMID:28051023 20220926 RGD associated with acute myocardial infarction; miRNA:decreased expression:blood plasma (rat) 2325565 Mir145 microRNA 145 gene DOID:6000 congestive heart failure treatment IEP D RGD:155260293|PMID:32554856 20220927 RGD 2325565 Mir145 microRNA 145 gene DOID:6432 pulmonary hypertension IEP D RGD:155230820|PMID:35369850 20220921 RGD mRNA:decreased expression:pulmonary artery (rat) 2325565 Mir145 microRNA 145 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15039395|PMID:30572504 20191204 RGD miRNA:decreased expression:liver (human) 2325565 Mir145 microRNA 145 gene DOID:707 B-cell lymphoma ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 2325565 Mir145 microRNA 145 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21248297 2325565 Mir145 microRNA 145 gene DOID:9000146 Plaque, Atherosclerotic disease_progression ISO RGD:1608328 D RGD:155260307|PMID:30456333 20220929 RGD miRNA:decreased expression:artery wall (human) 2325565 Mir145 microRNA 145 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 2325565 Mir145 microRNA 145 gene DOID:9000918 Disease Progression ISO RGD:1353686 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325565 Mir145 microRNA 145 gene DOID:9001542 Albuminuria ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 2325565 Mir145 microRNA 145 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325565 Mir145 microRNA 145 gene DOID:9001686 Acute Coronary Syndrome disease_progression ISO RGD:1353686 D RGD:155230830|PMID:32178736 20220922 RGD RNA:decreased expression:blood serum (human) 2325565 Mir145 microRNA 145 gene DOID:9001686 Acute Coronary Syndrome treatment IEP D RGD:155230830|PMID:32178736 20220922 RGD 2325565 Mir145 microRNA 145 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:155230822|PMID:23166305 20220921 RGD mRNA:decreased expression:small intestine (rat) 2325565 Mir145 microRNA 145 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 2325565 Mir145 microRNA 145 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 2325565 Mir145 microRNA 145 gene DOID:9003936 Cardiomegaly ISO RGD:1608328 D RGD:155260312|PMID:35139769 20220929 RGD miRNA:increased expression:blood serum (human) 2325565 Mir145 microRNA 145 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1608328 D RGD:155260312|PMID:35139769 20220929 RGD 2325565 Mir145 microRNA 145 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353686 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325565 Mir145 microRNA 145 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:13210556|PMID:19542014 20220927 RGD miRNA:altered expression:wall of blood vessel (rat) 2325565 Mir145 microRNA 145 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2325565 Mir145 microRNA 145 gene DOID:9007102 Myocardial Ischemia ISO RGD:1608328 D RGD:10047368|PMID:23028672 20220927 RGD miRNA:decreased expression:myocardium (mouse) 2325565 Mir145 microRNA 145 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220923 RGD 2325565 Mir145 microRNA 145 gene DOID:9007964 Arsenic Poisoning ISO RGD:1353686 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29705342 2325565 Mir145 microRNA 145 gene DOID:9008939 Breast Neoplasms ISO RGD:1353686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21463514 2325565 Mir145 microRNA 145 gene DOID:9206 Barrett's esophagus ISO RGD:1353686 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 2325565 Mir145 microRNA 145 gene DOID:9256 colorectal cancer ISO RGD:1353686 D RGD:153297808|PMID:19242066 20220727 RGD miRNA:decreased expression:colorectal mucosa (human) 2325565 Mir145 microRNA 145 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1353686 D RGD:152995508|PMID:29552756 20220627 RGD RNA:decreased expression:blood serum, colorectum (human) 2325565 Mir145 microRNA 145 gene DOID:9351 diabetes mellitus IEP D RGD:155260283|PMID:28051023 20220926 RGD miRNA:decreased expression:blood plasma (rat) 2325566 Mir143 microRNA 143 gene DOID:0060058 lymphoma ISO RGD:1346221 D RGD:11554173 20180515 CTD CTD Direct Evidence: therapeutic PMID:28736328 2325566 Mir143 microRNA 143 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346221 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2325566 Mir143 microRNA 143 gene DOID:0080685 aortic dissection ISO RGD:1346221 D RGD:155260287|PMID:28167124 20220926 RGD miRNA:decreased expression:aorta (human) 2325566 Mir143 microRNA 143 gene DOID:0080685 aortic dissection ISO RGD:1346221 D RGD:155260309|PMID:30787994 20220929 RGD miRNA:decreased expression:aorta (human) 2325566 Mir143 microRNA 143 gene DOID:10941 intracranial aneurysm ISO RGD:1346221 D RGD:155882593|PMID:32602008 20230201 RGD RNA:decreased expression:artery 2325566 Mir143 microRNA 143 gene DOID:10941 intracranial aneurysm ISO RGD:1346221 D RGD:155883158|PMID:30201338 20230201 RGD RNA:decreased expression:serum 2325566 Mir143 microRNA 143 gene DOID:13580 cholestasis ISO RGD:1346221 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 2325566 Mir143 microRNA 143 gene DOID:1612 breast cancer ISO RGD:1346221 D RGD:153297766|PMID:32104069 20220722 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) 2325566 Mir143 microRNA 143 gene DOID:219 colon cancer disease_progression ISO RGD:1346221 D RGD:153297766|PMID:32104069 20220722 RGD RNA:decreased expression:peripheral blood mononuclear cell (human) 2325566 Mir143 microRNA 143 gene DOID:3021 acute kidney failure ISO RGD:1346221 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325566 Mir143 microRNA 143 gene DOID:5844 myocardial infarction IEP D RGD:155882581|PMID:29728596 20230131 RGD RNA:increased expression:plasma, left ventricle: 2325566 Mir143 microRNA 143 gene DOID:5844 myocardial infarction ISO RGD:1608330 D RGD:155882580|PMID:28887629 20230131 RGD RNA:increased expression:myocardium: 2325566 Mir143 microRNA 143 gene DOID:6000 congestive heart failure severity ISO RGD:1346221 D RGD:155882581|PMID:29728596 20230131 RGD 2325566 Mir143 microRNA 143 gene DOID:707 B-cell lymphoma ISO RGD:1346221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 2325566 Mir143 microRNA 143 gene DOID:824 periodontitis severity ISO RGD:1346221 D RGD:155883167|PMID:31021403 20230202 RGD 2325566 Mir143 microRNA 143 gene DOID:8725 vascular dementia exacerbates IDA D RGD:155882588|PMID:36459592 20230131 RGD 2325566 Mir143 microRNA 143 gene DOID:8725 vascular dementia treatment ISO RGD:1346221 D RGD:155882588|PMID:36459592 20230131 RGD 2325566 Mir143 microRNA 143 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346221 D RGD:11537224|PMID:26311719 20230201 RGD RNA:increased expression:pulmonary smooth muscle cell: 2325566 Mir143 microRNA 143 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO RGD:1608330 D RGD:11537224|PMID:26311719 20230201 RGD 2325566 Mir143 microRNA 143 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346221 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:28736328|PMID:31152816 2325566 Mir143 microRNA 143 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892514 2325566 Mir143 microRNA 143 gene DOID:9002371 Cardiotoxicity ameliorates ISO RGD:1608330 D RGD:155883163|PMID:32170053 20230202 RGD 2325566 Mir143 microRNA 143 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346221 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325566 Mir143 microRNA 143 gene DOID:9004484 Sepsis exacerbates IDA D RGD:155883166|PMID:30546393 20230202 RGD 2325566 Mir143 microRNA 143 gene DOID:9006474 Arterial Occlusive Diseases treatment ISO RGD:1346221 D RGD:155883157|PMID:28057086 20230201 RGD 2325566 Mir143 microRNA 143 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346221 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2325566 Mir143 microRNA 143 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346221 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 2325566 Mir143 microRNA 143 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1346221 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26721309 2325566 Mir143 microRNA 143 gene DOID:9007702 Carcinogenesis ISO RGD:1346221 D RGD:11554173 20180515 CTD CTD Direct Evidence: therapeutic PMID:28736328 2325566 Mir143 microRNA 143 gene DOID:9256 colorectal cancer ISO RGD:1346221 D RGD:153344552|PMID:31245295 20220825 RGD mRNA:decreased expression:colon (human) 2325567 Mir142 microRNA 142 gene DOID:12365 malaria treatment ISO RGD:1615487 D RGD:35673288|PMID:28123381 20200710 RGD 2325567 Mir142 microRNA 142 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1342882 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 2325567 Mir142 microRNA 142 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342882 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325567 Mir142 microRNA 142 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1342882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325567 Mir142 microRNA 142 gene DOID:9256 colorectal cancer ISO RGD:1342882 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325567 Mir142 microRNA 142 gene DOID:9351 diabetes mellitus ISO RGD:1342882 D RGD:243065126|PMID:32544883 20230411 RGD RNA:increased expression:blood: 2325567 Mir142 microRNA 142 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342882 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325568 Mir138-1 microRNA 138-1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325569 Mir138-2 microRNA 138-2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 2325569 Mir138-2 microRNA 138-2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 2325569 Mir138-2 microRNA 138-2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 2325570 Mir137 microRNA 137 gene DOID:5419 schizophrenia ISO RGD:1345919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21926974 2325570 Mir137 microRNA 137 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1345919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325570 Mir137 microRNA 137 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1345919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325571 Mir133a1 microRNA 133a-1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1352770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 2325571 Mir133a1 microRNA 133a-1 gene DOID:1059 intellectual disability ISO RGD:1352770 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325571 Mir133a1 microRNA 133a-1 gene DOID:11714 gestational diabetes IEP D RGD:11564338|PMID:26512955 20161116 RGD 2325571 Mir133a1 microRNA 133a-1 gene DOID:3393 coronary artery disease ISO RGD:1352770 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:decreased expression:blood plasma (human) 2325571 Mir133a1 microRNA 133a-1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352770 D RGD:153344517|PMID:30086463 20220819 RGD human cells in mouse model 2325571 Mir133a1 microRNA 133a-1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352770 D RGD:153344517|PMID:30086463 20220819 RGD mRNA:decreased expression:liver (human) 2325571 Mir133a1 microRNA 133a-1 gene DOID:9000784 Fibrosis ISO RGD:1352770 D RGD:11554173 20171010 CTD CTD Direct Evidence: therapeutic PMID:19893015 2325571 Mir133a1 microRNA 133a-1 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1352770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 2325572 Mir132 microRNA 132 gene DOID:10652 Alzheimer's disease ISO RGD:1346883 D RGD:7327146|PMID:23585551 20230220 RGD RNA:decreased expression:brain 2325572 Mir132 microRNA 132 gene DOID:11054 urinary bladder cancer ISO RGD:1346883 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 2325572 Mir132 microRNA 132 gene DOID:12858 Huntington's disease ISO RGD:1608339 D RGD:11041745|PMID:21035445 20160428 RGD down-regulated 2325572 Mir132 microRNA 132 gene DOID:14330 Parkinson's disease ISO RGD:1346883 D RGD:10450788|PMID:25553963 20160129 RGD 2325572 Mir132 microRNA 132 gene DOID:9000998 Brain Injuries ISO RGD:1346883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 2325572 Mir132 microRNA 132 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325572 Mir132 microRNA 132 gene DOID:9008939 Breast Neoplasms ISO RGD:1346883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325572 Mir132 microRNA 132 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1346883 D RGD:151665745|PMID:29442000 20220330 RGD 2325573 Mir130b microRNA 130b gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1344051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 2325573 Mir130b microRNA 130b gene DOID:11198 DiGeorge syndrome ISO RGD:1344051 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 2325573 Mir130b microRNA 130b gene DOID:13580 cholestasis ISO RGD:1344051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325573 Mir130b microRNA 130b gene DOID:3347 osteosarcoma ISO RGD:1344051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 2325573 Mir130b microRNA 130b gene DOID:4989 pancreatitis ISO RGD:1344051 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325573 Mir130b microRNA 130b gene DOID:684 hepatocellular carcinoma severity ISO RGD:1344051 D RGD:9068941 20200609 RGD miRNA:increased expression:liver PMID:25387077|REF_RGD_ID:14694845 2325573 Mir130b microRNA 130b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325573 Mir130b microRNA 130b gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1344051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325573 Mir130b microRNA 130b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344051 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325573 Mir130b microRNA 130b gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22510560 2325573 Mir130b microRNA 130b gene DOID:9256 colorectal cancer ISO RGD:1344051 D RGD:9068941 20220728 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325573 Mir130b microRNA 130b gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344051 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:24478399 2325573 Mir130b microRNA 130b gene DOID:9970 obesity ISO RGD:1344051 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 2325574 Mir128-1 microRNA 128-1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1343624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 2325574 Mir128-1 microRNA 128-1 gene DOID:10487 Hirschsprung's disease ISO RGD:1343624 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29429387 2325575 Mir125b2 microRNA 125b-2 gene DOID:10652 Alzheimer's disease ISO RGD:1342678 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 2325575 Mir125b2 microRNA 125b-2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1342678 D RGD:11554173 20191112 CTD CTD Direct Evidence: therapeutic PMID:29122578 2325575 Mir125b2 microRNA 125b-2 gene DOID:14250 Down syndrome ISO RGD:1342678 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 2325575 Mir125b2 microRNA 125b-2 gene DOID:2043 hepatitis B ISO RGD:1342678 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325575 Mir125b2 microRNA 125b-2 gene DOID:5844 myocardial infarction ISO RGD:1342678 D RGD:11554173 20191112 CTD CTD Direct Evidence: therapeutic PMID:29122578 2325575 Mir125b2 microRNA 125b-2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1342678 D RGD:11554173 20191112 CTD CTD Direct Evidence: therapeutic PMID:29122578 2325575 Mir125b2 microRNA 125b-2 gene DOID:9003936 Cardiomegaly ISO RGD:1342678 D RGD:11554173 20191112 CTD CTD Direct Evidence: therapeutic PMID:29122578 2325575 Mir125b2 microRNA 125b-2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342678 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325575 Mir125b2 microRNA 125b-2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342678 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325577 Mir122 microRNA 122 gene DOID:0002116 pterygium IEP D RGD:14394423|PMID:27415790 20190315 RGD RNA:decreased expression:conjunctiva 2325577 Mir122 microRNA 122 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1347392 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 2325577 Mir122 microRNA 122 gene DOID:0111988 immunodeficiency 12 ISO RGD:1347392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 2325577 Mir122 microRNA 122 gene DOID:12365 malaria treatment ISO RGD:1614752 D RGD:35673288|PMID:28123381 20200710 RGD 2325577 Mir122 microRNA 122 gene DOID:1324 lung cancer treatment ISO RGD:1347392 D RGD:151361106|PMID:25472877 20220223 RGD human cells in mouse model 2325577 Mir122 microRNA 122 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1347392 D RGD:14401600|PMID:28987423 20190514 RGD miRNA:decreased expression:liver 2325577 Mir122 microRNA 122 gene DOID:2043 hepatitis B ISO RGD:1347392 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325577 Mir122 microRNA 122 gene DOID:2043 hepatitis B severity ISO RGD:1347392 D RGD:14401605|PMID:22105316 20190514 RGD miRNA:decreased expression:liver 2325577 Mir122 microRNA 122 gene DOID:3021 acute kidney failure ISO RGD:1347392 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325577 Mir122 microRNA 122 gene DOID:3770 pulmonary fibrosis ISO RGD:1347392 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325577 Mir122 microRNA 122 gene DOID:5082 liver cirrhosis ISO RGD:1347392 D RGD:151361113|PMID:27528885 20220223 RGD mRNA:decreased expression:blood (human) 2325577 Mir122 microRNA 122 gene DOID:684 hepatocellular carcinoma ISO RGD:1347392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16924677 2325577 Mir122 microRNA 122 gene DOID:684 hepatocellular carcinoma ISO RGD:1347392 D RGD:14394424|PMID:25269820 20190318 RGD 2325577 Mir122 microRNA 122 gene DOID:684 hepatocellular carcinoma ISO RGD:1347392 D RGD:151361113|PMID:27528885 20220223 RGD mRNA:decreased expression:blood (human) 2325577 Mir122 microRNA 122 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1347392 D RGD:14401603|PMID:25422324 20190514 RGD associated with hepatitis B miRNA:decreased expression:liver 2325577 Mir122 microRNA 122 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1347392 D RGD:151356981|PMID:19584283 20220222 RGD protein:decreased expression:liver (human) 2325577 Mir122 microRNA 122 gene DOID:9000111 Radiation Injuries ISO RGD:1347392 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32422326 2325577 Mir122 microRNA 122 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1347392 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32422326 2325577 Mir122 microRNA 122 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1614752 D RGD:14401600|PMID:28987423 20190514 RGD miRNA:decreased expression:hepatocyte 2325577 Mir122 microRNA 122 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1614752 D RGD:14401600|PMID:28987423 20190514 RGD 2325577 Mir122 microRNA 122 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347392 D RGD:14401602|PMID:24895202 20190514 RGD miRNA:increased expression:serum 2325577 Mir122 microRNA 122 gene DOID:9004590 Acute Liver Failure ISO RGD:1347392 D RGD:14401602|PMID:24895202 20190514 RGD miRNA:increased expression:serum 2325577 Mir122 microRNA 122 gene DOID:9006646 Metabolic Syndrome ISO RGD:1347392 D RGD:14401601|PMID:27899485 20190514 RGD miRNA:increased expression:serum 2325577 Mir122 microRNA 122 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347392 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:22045675|PMID:22363424|PMID:25359176|PMID:25527335|PMID:26489516|PMID:28545106|PMID:28844483|PMID:33483742 2325577 Mir122 microRNA 122 gene DOID:9008691 Liver Injury severity ISO RGD:1347392 D RGD:14401604|PMID:24086271 20190514 RGD associated with Gallstones; miRNA:increased expression:serum 2325577 Mir122 microRNA 122 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347392 D RGD:14401601|PMID:27899485 20190514 RGD miRNA:increased expression:serum 2325578 Mir107 microRNA 107 gene DOID:1793 pancreatic cancer severity ISO RGD:1346170 D RGD:14975279|PMID:28720759 20191004 RGD 2325578 Mir107 microRNA 107 gene DOID:3525 middle cerebral artery infarction IEP D RGD:11553310|PMID:26294080 20210721 RGD RNA:increased expression:brain 2325578 Mir107 microRNA 107 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346170 D RGD:126925764|PMID:30280776 20210519 RGD mRNA:decreased expression:lung (human) 2325578 Mir107 microRNA 107 gene DOID:6000 congestive heart failure ISO RGD:1346170 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325578 Mir107 microRNA 107 gene DOID:684 hepatocellular carcinoma ISO RGD:1346170 D RGD:11066920|PMID:26191213 20191004 RGD RNA:increased expression:liver: 2325578 Mir107 microRNA 107 gene DOID:684 hepatocellular carcinoma ISO RGD:1346170 D RGD:14975278|PMID:27773820 20191004 RGD RNA:decreased expression:liver: 2325578 Mir107 microRNA 107 gene DOID:684 hepatocellular carcinoma onset ISO RGD:1346170 D RGD:14975300|PMID:28079796 20191007 RGD 2325578 Mir107 microRNA 107 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346170 D RGD:14975277|PMID:30738047 20191004 RGD 2325578 Mir107 microRNA 107 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1346170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325578 Mir107 microRNA 107 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346170 D RGD:14975280|PMID:24429361 20191004 RGD RNA:decreased expression:liver: 2325578 Mir107 microRNA 107 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346170 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 2325578 Mir107 microRNA 107 gene DOID:9256 colorectal cancer ISO RGD:1346170 D RGD:9068941 20220728 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325578 Mir107 microRNA 107 gene DOID:9970 obesity ISO RGD:1608225 D RGD:14975298|PMID:21120623 20191007 RGD RNA:decreased expression:liver: 2325579 Mir103a1 microRNA 103a-1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1351023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 2325579 Mir103a1 microRNA 103a-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608227 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325580 Mir99a microRNA 99a gene DOID:10652 Alzheimer's disease ISO RGD:1349808 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 2325580 Mir99a microRNA 99a gene DOID:11054 urinary bladder cancer ISO RGD:1349808 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325580 Mir99a microRNA 99a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325580 Mir99a microRNA 99a gene DOID:13580 cholestasis ISO RGD:1349808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325580 Mir99a microRNA 99a gene DOID:14250 Down syndrome ISO RGD:1349808 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 2325580 Mir99a microRNA 99a gene DOID:2043 hepatitis B ISO RGD:1349808 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325580 Mir99a microRNA 99a gene DOID:2671 transitional cell carcinoma ISO RGD:1349808 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325580 Mir99a microRNA 99a gene DOID:3021 acute kidney failure ISO RGD:1349808 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325580 Mir99a microRNA 99a gene DOID:9000918 Disease Progression ISO RGD:1349808 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30026881 2325580 Mir99a microRNA 99a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325580 Mir99a microRNA 99a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349808 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325580 Mir99a microRNA 99a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349808 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325581 Mir98 microRNA 98 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325581 Mir98 microRNA 98 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344194 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325581 Mir98 microRNA 98 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1344194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 2325581 Mir98 microRNA 98 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1344194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 2325581 Mir98 microRNA 98 gene DOID:12849 autistic disorder ISO RGD:1344194 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325581 Mir98 microRNA 98 gene DOID:1324 lung cancer treatment ISO RGD:1607576 D RGD:153344587|PMID:35289739 20220829 RGD 2325581 Mir98 microRNA 98 gene DOID:4001 ovarian carcinoma ISO RGD:1344194 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 2325581 Mir98 microRNA 98 gene DOID:6000 congestive heart failure ISO RGD:1344194 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325581 Mir98 microRNA 98 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1344194 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27270317 2325581 Mir98 microRNA 98 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325581 Mir98 microRNA 98 gene DOID:9002928 Colonic Neoplasms ISO RGD:1344194 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27270317 2325581 Mir98 microRNA 98 gene DOID:9004603 Atkin Syndrome ISO RGD:1344194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 2325581 Mir98 microRNA 98 gene DOID:9005172 Lung Neoplasms ISO RGD:1344194 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27270317 2325581 Mir98 microRNA 98 gene DOID:9256 colorectal cancer ISO RGD:1344194 D RGD:153002793|PMID:23322774 20220720 RGD miRNA:increased expression:colorectum (human) 2325581 Mir98 microRNA 98 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344194 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325582 Mir96 microRNA 96 gene DOID:0110576 autosomal dominant nonsyndromic deafness 50 ISO RGD:1349367 D RGD:7240710 20130731 OMIM 2325582 Mir96 microRNA 96 gene DOID:0110576 autosomal dominant nonsyndromic deafness 50 ISO RGD:1349367 D RGD:8554872 20140708 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 50 PMID:14757864|PMID:19363479 2325582 Mir96 microRNA 96 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:1349367 D RGD:11553930|PMID:23906647 20161018 RGD DNA:SNP,haplotype: :rs6965643,rs2402959(human) 2325582 Mir96 microRNA 96 gene DOID:11446 sciatic neuropathy IEP D RGD:11553932|PMID:24234845 20161018 RGD RNA:decreased expression:dorsal root ganglion: 2325582 Mir96 microRNA 96 gene DOID:4752 multiple system atrophy ISO RGD:1349367 D RGD:11553929|PMID:24304186 20161018 RGD RNA:increased expression:frontal cortex: 2325582 Mir96 microRNA 96 gene DOID:4752 multiple system atrophy ISO RGD:1608170 D RGD:11553929|PMID:24304186 20161018 RGD RNA:increased expression:frontal cortex: 2325582 Mir96 microRNA 96 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349367 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325582 Mir96 microRNA 96 gene DOID:5679 retinal disease ISO RGD:1349367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 2325582 Mir96 microRNA 96 gene DOID:6000 congestive heart failure ISO RGD:1349367 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325582 Mir96 microRNA 96 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042901|PMID:28892647 20191217 RGD miRNA:increased expression:liver (human) 2325582 Mir96 microRNA 96 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15042902|PMID:25813403 20191217 RGD miRNA:increased expression:liver (human) 2325582 Mir96 microRNA 96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325582 Mir96 microRNA 96 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:11553934|PMID:19699278 20161018 RGD RNA:altered expression:dorsal root ganglion: 2325582 Mir96 microRNA 96 gene DOID:9002211 Hyperalgesia treatment IDA D RGD:11553932|PMID:24234845 20161018 RGD associated with Sciatic Neuropathy 2325582 Mir96 microRNA 96 gene DOID:9004538 Hearing Loss ISO RGD:1349367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363478|PMID:19363479 2325582 Mir96 microRNA 96 gene DOID:9004538 Hearing Loss ISO RGD:1349367 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 2325582 Mir96 microRNA 96 gene DOID:9004610 Acute Lung Injury IEP D RGD:11553933|PMID:24806323 20161018 RGD associated with Disseminated Intravascular Coagulation;RNA:increased expression:lung: 2325582 Mir96 microRNA 96 gene DOID:9006447 Eye Injuries ISO RGD:1349367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27208084 2325583 Mir92a2 microRNA 92a-2 gene DOID:12849 autistic disorder ISO RGD:1347660 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325584 Mir34a microRNA 34a gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343452 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2325584 Mir34a microRNA 34a gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1343452 D RGD:11533145|PMID:27077736 20190627 RGD miRNA:increased expression:plasma 2325584 Mir34a microRNA 34a gene DOID:10603 glucose intolerance ISO RGD:1343452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 2325584 Mir34a microRNA 34a gene DOID:11294 arteriovenous malformation ISO RGD:1343452 D RGD:155582214|PMID:23051042 20221013 RGD miRNA:increased expression:blood plasma (human) 2325584 Mir34a microRNA 34a gene DOID:114 heart disease ISO RGD:1343452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25448438 2325584 Mir34a microRNA 34a gene DOID:2030 anxiety disorder ISO RGD:1343452 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27424985 2325584 Mir34a microRNA 34a gene DOID:6000 congestive heart failure IEP D RGD:26923905|PMID:29373037 20200512 RGD RNA:increased expression:heart 2325584 Mir34a microRNA 34a gene DOID:684 hepatocellular carcinoma ISO RGD:1343452 D RGD:14694836|PMID:29328457 20190617 RGD miRNA:decreased expression:liver 2325584 Mir34a microRNA 34a gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343452 D RGD:14694835|PMID:25217526 20190617 RGD human cell line in a mouse model 2325584 Mir34a microRNA 34a gene DOID:687 hepatoblastoma severity ISO RGD:1343452 D RGD:14695006|PMID:27046304 20190627 RGD miRNA:increased expression:liver 2325584 Mir34a microRNA 34a gene DOID:8398 osteoarthritis ISO RGD:1343452 D RGD:152177909|PMID:30048987 20220520 RGD mRNA:increased expression:knee, hip (human) 2325584 Mir34a microRNA 34a gene DOID:8398 osteoarthritis treatment IMP D RGD:152177909|PMID:30048987 20220520 RGD 2325584 Mir34a microRNA 34a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325584 Mir34a microRNA 34a gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:14695005|PMID:28963950 20190627 RGD miRNA:increased expression:liver 2325584 Mir34a microRNA 34a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343452 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325584 Mir34a microRNA 34a gene DOID:9005372 Inflammation ISO RGD:1343452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 2325584 Mir34a microRNA 34a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343452 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325584 Mir34a microRNA 34a gene DOID:9007482 Bone Metastasis susceptibility ISO RGD:1343452 D RGD:14694837|PMID:27893432 20190617 RGD associated with hepatocellular carcinoma;miRNA:decreased expression:serum, bone 2325584 Mir34a microRNA 34a gene DOID:9256 colorectal cancer ISO RGD:1343452 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325584 Mir34a microRNA 34a gene DOID:9452 fatty liver disease ISO RGD:1343452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 2325584 Mir34a microRNA 34a gene DOID:9970 obesity ISO RGD:1343452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 2325585 Mir34c microRNA 34c gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1348685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 2325585 Mir34c microRNA 34c gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1348685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 2325585 Mir34c microRNA 34c gene DOID:1059 intellectual disability ISO RGD:1348685 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325585 Mir34c microRNA 34c gene DOID:12704 ataxia telangiectasia ISO RGD:1348685 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2325585 Mir34c microRNA 34c gene DOID:14330 Parkinson's disease ISO RGD:1348685 D RGD:10755477|PMID:21558425 20160129 RGD 2325585 Mir34c microRNA 34c gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325585 Mir34c microRNA 34c gene DOID:9003613 Laryngeal Neoplasms sexual_dimorphism ISO RGD:1348685 D RGD:153344531|PMID:25266939 20220823 RGD miRNA:increased expression:larynx epithelium (human) 2325585 Mir34c microRNA 34c gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348685 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2325585 Mir34c microRNA 34c gene DOID:9005172 Lung Neoplasms ISO RGD:1348685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325585 Mir34c microRNA 34c gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325585 Mir34c microRNA 34c gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348685 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24362009 2325585 Mir34c microRNA 34c gene DOID:9007787 Carcinoid Tumor ISO RGD:1348685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325585 Mir34c microRNA 34c gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348685 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325585 Mir34c microRNA 34c gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1348685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 2325586 Mir32 microRNA 32 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1348727 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 2325586 Mir32 microRNA 32 gene DOID:10591 pre-eclampsia ISO RGD:1348727 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 2325586 Mir32 microRNA 32 gene DOID:1790 malignant mesothelioma ISO RGD:1348727 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27716620 2325587 Mir30c2 microRNA 30c-2 gene DOID:5082 liver cirrhosis ISO RGD:1348464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325588 Mir30a microRNA 30a gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325588 Mir30a microRNA 30a gene DOID:10534 stomach cancer severity ISO RGD:1352516 D RGD:35673292|PMID:32116236 20200710 RGD 2325588 Mir30a microRNA 30a gene DOID:10534 stomach cancer treatment ISO RGD:1607661 D RGD:35673292|PMID:32116236 20200710 RGD 2325588 Mir30a microRNA 30a gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325588 Mir30a microRNA 30a gene DOID:1574 alcohol use disorder onset IEP D RGD:35673317|PMID:32135570 20200713 RGD 2325588 Mir30a microRNA 30a gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1352516 D RGD:35668864|PMID:25866116 20200709 RGD 2325588 Mir30a microRNA 30a gene DOID:3021 acute kidney failure ISO RGD:1352516 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325588 Mir30a microRNA 30a gene DOID:3393 coronary artery disease disease_progression ISO RGD:1352516 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:increased expression:blood plasma (human) 2325588 Mir30a microRNA 30a gene DOID:3526 cerebral infarction treatment IEP D RGD:35668865|PMID:28469772 20200709 RGD 2325588 Mir30a microRNA 30a gene DOID:3770 pulmonary fibrosis IEP D RGD:35673291|PMID:25284615 20200710 RGD RNA:decreased expression:lung 2325588 Mir30a microRNA 30a gene DOID:3770 pulmonary fibrosis ISO RGD:1352516 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325588 Mir30a microRNA 30a gene DOID:4989 pancreatitis ISO RGD:1352516 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325588 Mir30a microRNA 30a gene DOID:5082 liver cirrhosis ISO RGD:1352516 D RGD:35673290|PMID:29587268 20200710 RGD RNA:decreased expression:liver 2325588 Mir30a microRNA 30a gene DOID:5844 myocardial infarction treatment IDA D RGD:35673318|PMID:29849775 20200713 RGD 2325588 Mir30a microRNA 30a gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352516 D RGD:13432035|PMID:23486085 20170913 RGD associated with Colorectal Neoplasms 2325588 Mir30a microRNA 30a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325588 Mir30a microRNA 30a gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:35673290|PMID:29587268 20200710 RGD 2325588 Mir30a microRNA 30a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325588 Mir30a microRNA 30a gene DOID:9003936 Cardiomegaly IEP D RGD:11561904|PMID:23326547 20161110 RGD RNA:decreased expression:heart left ventricle 2325588 Mir30a microRNA 30a gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1352516 D RGD:11561904|PMID:23326547 20161110 RGD 2325588 Mir30a microRNA 30a gene DOID:9005172 Lung Neoplasms ISO RGD:1352516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325588 Mir30a microRNA 30a gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:35673289|PMID:27528406 20200710 RGD RNA:increased expression:plasma 2325588 Mir30a microRNA 30a gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1352516 D RGD:35673289|PMID:27528406 20200710 RGD RNA:increased expression:plasma 2325588 Mir30a microRNA 30a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352516 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:22363424|PMID:25359176|PMID:28545106 2325588 Mir30a microRNA 30a gene DOID:9007787 Carcinoid Tumor ISO RGD:1352516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325588 Mir30a microRNA 30a gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:35673319|PMID:25137026 20200713 RGD 2325588 Mir30a microRNA 30a gene DOID:9206 Barrett's esophagus ISO RGD:1352516 D RGD:9068941 20220825 RGD miRNA:increased expression:esophagus (human) PMID:29906417|REF_RGD_ID:153344526 2325588 Mir30a microRNA 30a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352516 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325589 Mir30d microRNA 30d gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325589 Mir30d microRNA 30d gene DOID:3021 acute kidney failure ISO RGD:1344201 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325589 Mir30d microRNA 30d gene DOID:557 kidney disease ISO RGD:1344201 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 2325589 Mir30d microRNA 30d gene DOID:9000784 Fibrosis ISO RGD:1344201 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 2325589 Mir30d microRNA 30d gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325589 Mir30d microRNA 30d gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1344201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325589 Mir30d microRNA 30d gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325590 Mir30c1 microRNA 30c-1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1351898 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2325590 Mir30c1 microRNA 30c-1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20889907 2325590 Mir30c1 microRNA 30c-1 gene DOID:5082 liver cirrhosis ISO RGD:1607659 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325590 Mir30c1 microRNA 30c-1 gene DOID:5844 myocardial infarction ISO RGD:1351898 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34217758 2325590 Mir30c1 microRNA 30c-1 gene DOID:9005372 Inflammation ISO RGD:1351898 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34217758 2325590 Mir30c1 microRNA 30c-1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607659 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325590 Mir30c1 microRNA 30c-1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351898 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34217758 2325591 Mir29b1 microRNA 29b-1 gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1347389 D RGD:242905206|PMID:34887365 20230328 RGD RNA:increased expression:blood serum (human) 2325591 Mir29b1 microRNA 29b-1 gene DOID:14330 Parkinson's disease ISO RGD:1347389 D RGD:10755479|PMID:22003392 20160129 RGD 2325591 Mir29b1 microRNA 29b-1 gene DOID:3525 middle cerebral artery infarction exacerbates IMP D RGD:242905190|PMID:35322553 20230327 RGD 2325591 Mir29b1 microRNA 29b-1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1347389 D RGD:13464324|PMID:23591808 20180103 RGD 2325591 Mir29b1 microRNA 29b-1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347389 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325591 Mir29b1 microRNA 29b-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347389 D RGD:13702880|PMID:29374012 20200508 RGD RNA:increased expression:arteriole 2325591 Mir29b1 microRNA 29b-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347389 D RGD:243048436|PMID:33116722 20230331 RGD RNA:increased expression:blood serum (human) 2325592 Mir27a microRNA 27a gene DOID:11054 urinary bladder cancer ISO RGD:1345708 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2325592 Mir27a microRNA 27a gene DOID:1852 intrahepatic cholestasis ISO RGD:1607666 D RGD:14695552|PMID:25226451 20190708 RGD mRNA:increased expression:liver (mouse) 2325592 Mir27a microRNA 27a gene DOID:4989 pancreatitis ISO RGD:1345708 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325592 Mir27a microRNA 27a gene DOID:6000 congestive heart failure IEP D RGD:26923905|PMID:29373037 20200512 RGD RNA:increased expression:heart 2325592 Mir27a microRNA 27a gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345708 D RGD:14696659|PMID:29143999 20190709 RGD human cell line in a mouse model 2325592 Mir27a microRNA 27a gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1345708 D RGD:14696660|PMID:30083261 20190709 RGD human miRNA and cell line in a mouse model 2325592 Mir27a microRNA 27a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1345708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325592 Mir27a microRNA 27a gene DOID:9256 colorectal cancer ISO RGD:1345708 D RGD:9068941 20220805 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325592 Mir27a microRNA 27a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345708 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325592 Mir27a microRNA 27a gene DOID:9538 multiple myeloma ISO RGD:1345708 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 2325593 Mir27b microRNA 27b gene DOID:10534 stomach cancer ISO RGD:1343068 D RGD:9068941 20220825 RGD human cells in mouse model PMID:26623719|REF_RGD_ID:11564571 2325593 Mir27b microRNA 27b gene DOID:10534 stomach cancer ISO RGD:2295 D RGD:9068941 20220825 RGD human cells in mouse model PMID:26623719|REF_RGD_ID:11564571 2325593 Mir27b microRNA 27b gene DOID:10534 stomach cancer severity ISO RGD:1343068 D RGD:11564571|PMID:26623719 20220224 RGD mRNA:decreased expression:stomach (human) 2325593 Mir27b microRNA 27b gene DOID:1059 intellectual disability ISO RGD:1343068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325593 Mir27b microRNA 27b gene DOID:13580 cholestasis ISO RGD:1343068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325593 Mir27b microRNA 27b gene DOID:4989 pancreatitis ISO RGD:1343068 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325593 Mir27b microRNA 27b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343068 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 2325593 Mir27b microRNA 27b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325593 Mir27b microRNA 27b gene DOID:9256 colorectal cancer ISO RGD:1343068 D RGD:9068941 20220908 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325594 Mir25 microRNA 25 gene DOID:10591 pre-eclampsia ISO RGD:1351042 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 2325594 Mir25 microRNA 25 gene DOID:3021 acute kidney failure ISO RGD:1351042 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325594 Mir25 microRNA 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351042 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2325594 Mir25 microRNA 25 gene DOID:5844 myocardial infarction ISO RGD:1607596 D RGD:155882580|PMID:28887629 20230131 RGD RNA:increased expression:myocardium: 2325594 Mir25 microRNA 25 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042853|PMID:27298561 20191217 RGD associated with hepatitis B;miRNA:increased expression:liver (human) 2325594 Mir25 microRNA 25 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042899|PMID:21098710 20191217 RGD associated with hepatitis B;miRNA:increased expression:serum (human) 2325594 Mir25 microRNA 25 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15039389|PMID:30191950 20191217 RGD miRNA:increased expression:liver (human) 2325594 Mir25 microRNA 25 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:15042897|PMID:24593846 20191217 RGD miRNA:increased expression:liver (human) 2325594 Mir25 microRNA 25 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 2325596 Mir23b microRNA 23b gene DOID:1059 intellectual disability ISO RGD:1349177 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325596 Mir23b microRNA 23b gene DOID:4001 ovarian carcinoma treatment ISO RGD:1349177 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26872615|REF_RGD_ID:11555725 2325596 Mir23b microRNA 23b gene DOID:4947 cholangiocarcinoma ISO RGD:1349177 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 2325596 Mir23b microRNA 23b gene DOID:684 hepatocellular carcinoma ISO RGD:1349177 D RGD:153344564|PMID:28036298 20220825 RGD DNA:hypermethylation 2325596 Mir23b microRNA 23b gene DOID:7148 rheumatoid arthritis ISO RGD:1349177 D RGD:155663483|PMID:22660635 20221117 RGD mRNA, protein:decreased expression:synovial (human) 2325596 Mir23b microRNA 23b gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1349177 D RGD:41404643|PMID:27991481 20210129 RGD 2325596 Mir23b microRNA 23b gene DOID:9002457 Experimental Arthritis ISO RGD:1607669 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:decreased expression:joint (mouse) 2325596 Mir23b microRNA 23b gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1607669 D RGD:9068941 20221117 RGD PMID:22660635|REF_RGD_ID:155663483 2325596 Mir23b microRNA 23b gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1607669 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:decreased expression:spinal cord (mouse) 2325596 Mir23b microRNA 23b gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1607669 D RGD:9068941 20221117 RGD PMID:22660635|REF_RGD_ID:155663483 2325596 Mir23b microRNA 23b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349177 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325596 Mir23b microRNA 23b gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325596 Mir23b microRNA 23b gene DOID:9074 systemic lupus erythematosus ISO RGD:1349177 D RGD:155663483|PMID:22660635 20221117 RGD mRNA, protein:decreased expression:kidney (human) 2325596 Mir23b microRNA 23b gene DOID:9074 systemic lupus erythematosus ISO RGD:1607669 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:decreased expression:kidney (human) 2325596 Mir23b microRNA 23b gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1607669 D RGD:9068941 20221117 RGD PMID:22660635|REF_RGD_ID:155663483 2325596 Mir23b microRNA 23b gene DOID:9256 colorectal cancer ISO RGD:1349177 D RGD:153344558|PMID:23758639 20220825 RGD RNA:increased expression:colorectum, blood (human) 2325596 Mir23b microRNA 23b gene DOID:9970 obesity ISO RGD:1349177 D RGD:155882550|PMID:31321740 20230130 RGD associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: 2325597 Mir22 microRNA 22 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1345864 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:26244872 2325597 Mir22 microRNA 22 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1608348 D RGD:25330354|PMID:32195457 20200408 RGD 2325597 Mir22 microRNA 22 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1608348 D RGD:25330354|PMID:32195457 20200408 RGD 2325597 Mir22 microRNA 22 gene DOID:12858 Huntington's disease ISO RGD:1608348 D RGD:11041745|PMID:21035445 20160428 RGD down-regulated 2325597 Mir22 microRNA 22 gene DOID:14330 Parkinson's disease ISO RGD:1345864 D RGD:10755488|PMID:21295623 20160129 RGD 2325597 Mir22 microRNA 22 gene DOID:2044 drug-induced hepatitis ISO RGD:1608348 D RGD:14700876|PMID:21750200 20190822 RGD in male; RNA:increased expression:liver: 2325597 Mir22 microRNA 22 gene DOID:219 colon cancer disease_progression ISO RGD:1345864 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) 2325597 Mir22 microRNA 22 gene DOID:4989 pancreatitis ISO RGD:1345864 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 2325597 Mir22 microRNA 22 gene DOID:684 hepatocellular carcinoma ISO RGD:1345864 D RGD:14700876|PMID:21750200 20190822 RGD in male; RNA:increased expression:liver: 2325597 Mir22 microRNA 22 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345864 D RGD:14700875|PMID:27811373 20190822 RGD 2325597 Mir22 microRNA 22 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345864 D RGD:14700874|PMID:23766411 20190822 RGD 2325597 Mir22 microRNA 22 gene DOID:9005372 Inflammation ISO RGD:1345864 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28161397 2325597 Mir22 microRNA 22 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345864 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 2325597 Mir22 microRNA 22 gene DOID:9452 fatty liver disease ISO RGD:1608348 D RGD:25330354|PMID:32195457 20200408 RGD 2325597 Mir22 microRNA 22 gene DOID:9452 fatty liver disease severity ISO RGD:1345864 D RGD:25330354|PMID:32195457 20200408 RGD 2325598 Mir21 microRNA 21 gene DOID:0040088 autoimmune uveitis ameliorates ISO RGD:1608349 D RGD:41404699|PMID:31228813 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:0050777 Joubert syndrome ISO RGD:1349265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 2325598 Mir21 microRNA 21 gene DOID:0060108 brain glioma ISO RGD:1349265 D RGD:152998875|PMID:25059666 20220629 RGD human cells in mouse model; RNA:increased expression:brain (human) 2325598 Mir21 microRNA 21 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1349265 D RGD:41404697|PMID:20956945 20210204 RGD RNA:increased expression:thyroid gland: 2325598 Mir21 microRNA 21 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1349265 D RGD:41404659|PMID:26338827 20210201 RGD RNA:increased expression:liver 2325598 Mir21 microRNA 21 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:1608349 D RGD:41404659|PMID:26338827 20210201 RGD 2325598 Mir21 microRNA 21 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1349265 D RGD:21081544|PMID:29658610 20200225 RGD miRNA:increased expression:peripheral blood mononuclear cell 2325598 Mir21 microRNA 21 gene DOID:10534 stomach cancer ISO RGD:1349265 D RGD:152998900|PMID:22638884 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:11166 papillomavirus infectious disease ISO RGD:1349265 D RGD:41404529|PMID:26010154 20210127 RGD RNA:increased expression:cervical cell 2325598 Mir21 microRNA 21 gene DOID:11263 chlamydia ISO RGD:1608349 D RGD:41404696|PMID:27448447 20210203 RGD associated with asthma;RNA:increased expression:lung 2325598 Mir21 microRNA 21 gene DOID:114 heart disease ISO RGD:1349265 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29355689 2325598 Mir21 microRNA 21 gene DOID:11446 sciatic neuropathy IEP D RGD:151893491|PMID:25484256 20220421 RGD RNA:increased expression:dorsal root ganglion neuron 2325598 Mir21 microRNA 21 gene DOID:11516 hypertensive heart disease ISO RGD:1349265 D RGD:41404711|PMID:32040481 20210205 RGD RNA:increased expression:serum,heart: 2325598 Mir21 microRNA 21 gene DOID:11573 listeriosis exacerbates ISO RGD:1608349 D RGD:41404664|PMID:28589100 20210202 RGD 2325598 Mir21 microRNA 21 gene DOID:12205 dengue disease ISO RGD:1349265 D RGD:41404658|PMID:26941580 20210201 RGD RNA:increased expression:serum: 2325598 Mir21 microRNA 21 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1349265 D RGD:21408577|PMID:28886078 20200320 RGD 2325598 Mir21 microRNA 21 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1608349 D RGD:41404696|PMID:27448447 20210203 RGD associated with asthma; 2325598 Mir21 microRNA 21 gene DOID:1324 lung cancer ISO RGD:1349265 D RGD:152998900|PMID:22638884 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:1324 lung cancer ameliorates ISO RGD:1608349 D RGD:152998905|PMID:22618808 20220701 RGD 2325598 Mir21 microRNA 21 gene DOID:1380 endometrial cancer ISO RGD:1349265 D RGD:126775148|PMID:33408517 20210406 RGD miRNA:increased expression:endometrium 2325598 Mir21 microRNA 21 gene DOID:14115 toxic shock syndrome ameliorates ISO RGD:1608349 D RGD:41404698|PMID:31189875 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:14115 toxic shock syndrome exacerbates ISO RGD:1608349 D RGD:41404641|PMID:28437377 20210129 RGD 2325598 Mir21 microRNA 21 gene DOID:14330 Parkinson's disease IEP D RGD:41404531|PMID:32326590 20210127 RGD RNA:increased expression: plasma extracellular vesicle 2325598 Mir21 microRNA 21 gene DOID:1612 breast cancer IEP D RGD:152025189|PMID:32157513 20220428 RGD RNA:increased expression:thoracic lymph node 2325598 Mir21 microRNA 21 gene DOID:1612 breast cancer ISO RGD:1349265 D RGD:152998900|PMID:22638884 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:1612 breast cancer ISO RGD:1349265 D RGD:153297766|PMID:32104069 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) 2325598 Mir21 microRNA 21 gene DOID:1612 breast cancer severity ISO RGD:1349265 D RGD:9068941 20220630 RGD miRNA:increased expression:breast (human) PMID:18812439|REF_RGD_ID:152998878 2325598 Mir21 microRNA 21 gene DOID:1733 cryptosporidiosis ISO RGD:1608349 D RGD:40925950|PMID:25838265 20210126 RGD RNA:increased expression:ileum 2325598 Mir21 microRNA 21 gene DOID:1781 thyroid gland cancer ameliorates IMP D RGD:41404697|PMID:20956945 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:1824 status epilepticus IEP D RGD:41404707|PMID:22019057 20210204 RGD RNA:increased expression: hippocampus 2325598 Mir21 microRNA 21 gene DOID:1824 status epilepticus ameliorates IMP D RGD:41404714|PMID:29751355 20210205 RGD 2325598 Mir21 microRNA 21 gene DOID:1883 hepatitis C ISO RGD:1349265 D RGD:41404662|PMID:30938910 20210202 RGD RNA:increased expression:liver 2325598 Mir21 microRNA 21 gene DOID:1883 hepatitis C disease_progression ISO RGD:1349265 D RGD:41404667|PMID:20625373 20210202 RGD 2325598 Mir21 microRNA 21 gene DOID:1936 atherosclerosis severity ISO RGD:1349265 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325598 Mir21 microRNA 21 gene DOID:219 colon cancer ISO RGD:1349265 D RGD:153297766|PMID:32104069 20220722 RGD RNA:increased expression:peripheral blood mononuclear cell (human) 2325598 Mir21 microRNA 21 gene DOID:219 colon cancer disease_progression ISO RGD:1349265 D RGD:152995486|PMID:27798874 20220627 RGD RNA:increased expression:colon (human) 2325598 Mir21 microRNA 21 gene DOID:2568 cervicitis ISO RGD:1349265 D RGD:41404529|PMID:26010154 20210127 RGD RNA:increased expression:cervical cell 2325598 Mir21 microRNA 21 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1349265 D RGD:9068941 20220825 RGD miRNA:increased expression:blood serum (human) PMID:35117730|REF_RGD_ID:153344530 2325598 Mir21 microRNA 21 gene DOID:289 endometriosis ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2325598 Mir21 microRNA 21 gene DOID:3042 allergic contact dermatitis treatment IEP D RGD:41404666|PMID:29282578 20210202 RGD 2325598 Mir21 microRNA 21 gene DOID:3068 glioblastoma ameliorates IMP D RGD:41404645|PMID:31730913 20210129 RGD 2325598 Mir21 microRNA 21 gene DOID:3178 skin papilloma ameliorates ISO RGD:1608349 D RGD:41404663|PMID:21646541 20210202 RGD 2325598 Mir21 microRNA 21 gene DOID:3393 coronary artery disease ISO RGD:1349265 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:increased expression:blood plasma (human) 2325598 Mir21 microRNA 21 gene DOID:3393 coronary artery disease ISO RGD:1349265 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325598 Mir21 microRNA 21 gene DOID:3526 cerebral infarction IEP D RGD:41410884|PMID:20840605 20210217 RGD RNA:increased expression:brain 2325598 Mir21 microRNA 21 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1349265 D RGD:41404529|PMID:26010154 20210127 RGD RNA:increased expression:cervical cell 2325598 Mir21 microRNA 21 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:41404715|PMID:29084974 20210205 RGD 2325598 Mir21 microRNA 21 gene DOID:3905 lung carcinoma ISO RGD:1608349 D RGD:41404697|PMID:20956945 20210204 RGD RNA:increased expression:lung: 2325598 Mir21 microRNA 21 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349265 D RGD:152998886|PMID:33467964 20220630 RGD RNA:increased expression:lung (human) 2325598 Mir21 microRNA 21 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349265 D RGD:152998889|PMID:22956424 20220630 RGD RNA:increased expression:lung (human) 2325598 Mir21 microRNA 21 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349265 D RGD:152998899|PMID:25477028 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349265 D RGD:152998885|PMID:26880855 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349265 D RGD:152998901|PMID:20223231 20220630 RGD RNA:increased expression:lung (human) 2325598 Mir21 microRNA 21 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349265 D RGD:41404697|PMID:20956945 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:3910 lung adenocarcinoma ISO RGD:1608349 D RGD:152998954|PMID:27777637 20220708 RGD miRNA:increased expression:sputum (human) 2325598 Mir21 microRNA 21 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1349265 D RGD:152998892|PMID:29892003 20220630 RGD RNA:increased expression:lung (human) 2325598 Mir21 microRNA 21 gene DOID:4362 cervical cancer severity ISO RGD:1349265 D RGD:40925949|PMID:32256824 20210126 RGD 2325598 Mir21 microRNA 21 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1349265 D RGD:41404702|PMID:26481465 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1349265 D RGD:14928335|PMID:27685844 20190917 RGD RNA:increased expression:liver,plasma 2325598 Mir21 microRNA 21 gene DOID:4947 cholangiocarcinoma ISO RGD:1349265 D RGD:41404678|PMID:26456596 20210203 RGD RNA:increased expression:urine 2325598 Mir21 microRNA 21 gene DOID:5041 esophageal cancer ISO RGD:1349265 D RGD:152995510|PMID:27188433 20220628 RGD RNA:increased expression:esophagus (human) 2325598 Mir21 microRNA 21 gene DOID:5041 esophageal cancer ISO RGD:1349265 D RGD:152998900|PMID:22638884 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:1608349 D RGD:40925947|PMID:26946098 20210126 RGD 2325598 Mir21 microRNA 21 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1349265 D RGD:41404701|PMID:30147020 20210204 RGD associated with chronic hepatitis B 2325598 Mir21 microRNA 21 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1608349 D RGD:41404667|PMID:20625373 20210202 RGD 2325598 Mir21 microRNA 21 gene DOID:5082 liver cirrhosis onset IEP D RGD:14695024|PMID:27320964 20190628 RGD associated with nonalcoholic fatty liver disease;miRNA:increased expression:liver, plasma 2325598 Mir21 microRNA 21 gene DOID:5082 liver cirrhosis treatment IEP D RGD:41404717|PMID:30419452 20210205 RGD 2325598 Mir21 microRNA 21 gene DOID:5386 lung adenoma ISO RGD:1608349 D RGD:41404697|PMID:20956945 20210204 RGD RNA:increased expression:lung: 2325598 Mir21 microRNA 21 gene DOID:557 kidney disease ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23469132 2325598 Mir21 microRNA 21 gene DOID:6000 congestive heart failure IEP D RGD:41404712|PMID:19043405 20210205 RGD RNA:increased expression:heart, myofibroblast: 2325598 Mir21 microRNA 21 gene DOID:6000 congestive heart failure ISO RGD:1349265 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325598 Mir21 microRNA 21 gene DOID:6000 congestive heart failure ISO RGD:1349265 D RGD:41404712|PMID:19043405 20210205 RGD RNA:increased expression:left ventricular myocardium 2325598 Mir21 microRNA 21 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1608349 D RGD:41404712|PMID:19043405 20210205 RGD 2325598 Mir21 microRNA 21 gene DOID:6000 congestive heart failure treatment ISO RGD:1608349 D RGD:41404712|PMID:19043405 20210205 RGD 2325598 Mir21 microRNA 21 gene DOID:6432 pulmonary hypertension IEP D RGD:41410883|PMID:32402408 20210217 RGD RNA:increased expression:lung 2325598 Mir21 microRNA 21 gene DOID:684 hepatocellular carcinoma ISO RGD:1349265 D RGD:14695022|PMID:20447717 20190628 RGD miRNA:increased expression:liver 2325598 Mir21 microRNA 21 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1349265 D RGD:40925952|PMID:24963487 20210126 RGD 2325598 Mir21 microRNA 21 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1349265 D RGD:41404642|PMID:21749846 20210129 RGD 2325598 Mir21 microRNA 21 gene DOID:687 hepatoblastoma ISO RGD:1349265 D RGD:14695023|PMID:27601233 20190628 RGD miRNA:increased expression:plasma, extracellular exosome 2325598 Mir21 microRNA 21 gene DOID:8283 peritonitis ISO RGD:1608349 D RGD:11342022|PMID:26382295 20210127 RGD 2325598 Mir21 microRNA 21 gene DOID:8437 intestinal obstruction ISO RGD:1349265 D RGD:41404691|PMID:23826144 20210203 RGD RNA:increased expression:colon 2325598 Mir21 microRNA 21 gene DOID:8469 influenza ameliorates ISO RGD:1608349 D RGD:41404696|PMID:27448447 20210203 RGD associated with asthma; 2325598 Mir21 microRNA 21 gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1349265 D RGD:41404643|PMID:27991481 20210129 RGD 2325598 Mir21 microRNA 21 gene DOID:8778 Crohn's disease ISO RGD:1349265 D RGD:41404530|PMID:25144570 20210127 RGD RNA:increased expression:leukocyte 2325598 Mir21 microRNA 21 gene DOID:8923 skin melanoma disease_progression ISO RGD:1349265 D RGD:11342032|PMID:26150475 20220629 RGD RNA:increased expression:skin (human) 2325598 Mir21 microRNA 21 gene DOID:8947 diabetic retinopathy IEP D RGD:41410819|PMID:31759996 20210216 RGD RNA:increased expression:retina 2325598 Mir21 microRNA 21 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1349265 D RGD:41404529|PMID:26010154 20210127 RGD RNA:increased expression:cervical cell 2325598 Mir21 microRNA 21 gene DOID:9000027 Microsatellite Instability ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 2325598 Mir21 microRNA 21 gene DOID:9000039 Spinal Cord Injuries exacerbates IMP D RGD:41410823|PMID:31102912 20210216 RGD 2325598 Mir21 microRNA 21 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1608349 D RGD:41404691|PMID:23826144 20210203 RGD 2325598 Mir21 microRNA 21 gene DOID:9000109 Haemophilus Infections ameliorates ISO RGD:1608349 D RGD:41404696|PMID:27448447 20210203 RGD associated with asthma; 2325598 Mir21 microRNA 21 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21248297 2325598 Mir21 microRNA 21 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1608349 D RGD:41404640|PMID:23588407 20210129 RGD associated with Coxsackievirus Infections 2325598 Mir21 microRNA 21 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1608349 D RGD:41404700|PMID:23544605 20210204 RGD associated with Coxsackievirus Infections 2325598 Mir21 microRNA 21 gene DOID:9000483 Angina Pectoris ISO RGD:1349265 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325598 Mir21 microRNA 21 gene DOID:9000784 Fibrosis ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23469132 2325598 Mir21 microRNA 21 gene DOID:9000918 Disease Progression ISO RGD:1349265 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27816459 2325598 Mir21 microRNA 21 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349265 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26101800 2325598 Mir21 microRNA 21 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1349265 D RGD:152998897|PMID:18270520 20220630 RGD human cells in mouse model;associated with breast cancer 2325598 Mir21 microRNA 21 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1349265 D RGD:152998873|PMID:32736696 20220629 RGD associated with prostate carcinoma; human cells in mouse model 2325598 Mir21 microRNA 21 gene DOID:9001724 Fusobacterium Infections severity ISO RGD:1349265 D RGD:40925941|PMID:27876571 20210125 RGD associated with colorectal cancer 2325598 Mir21 microRNA 21 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:41410824|PMID:29187695 20210216 RGD RNA:increased expression:liver 2325598 Mir21 microRNA 21 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:41410820|PMID:30847937 20210216 RGD RNA:increased expression:kidney 2325598 Mir21 microRNA 21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23272133 2325598 Mir21 microRNA 21 gene DOID:9002312 Atrial Remodeling treatment IEP D RGD:41404716|PMID:30203914 20210205 RGD 2325598 Mir21 microRNA 21 gene DOID:9002488 Peritoneal Fibrosis IEP D RGD:40925948|PMID:30515805 20210126 RGD RNA:increased expression:peritoneal fluid,tissue 2325598 Mir21 microRNA 21 gene DOID:9003936 Cardiomegaly ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17525252 2325598 Mir21 microRNA 21 gene DOID:9003936 Cardiomegaly ISO RGD:1608349 D RGD:41404711|PMID:32040481 20210205 RGD RNA:increased expression:heart: 2325598 Mir21 microRNA 21 gene DOID:9004237 Hyperoxic Lung Injury ameliorates IDA D RGD:41404709|PMID:31537223 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:9004237 Hyperoxic Lung Injury exacerbates IMP D RGD:41404708|PMID:28627345 20210204 RGD 2325598 Mir21 microRNA 21 gene DOID:9004272 Varicose Ulcer ISO RGD:1349265 D RGD:10412021|PMID:22773832 20151111 RGD miRNA:increased expression:skin: 2325598 Mir21 microRNA 21 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349265 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26101800|PMID:29501572 2325598 Mir21 microRNA 21 gene DOID:9004610 Acute Lung Injury IEP D RGD:41410885|PMID:30542412 20210217 RGD RNA:increased expression:lung 2325598 Mir21 microRNA 21 gene DOID:9004657 Weight Gain ISO RGD:1608349 D RGD:11554173 20190423 CTD CTD Direct Evidence: therapeutic PMID:26996129 2325598 Mir21 microRNA 21 gene DOID:9005172 Lung Neoplasms ISO RGD:1349265 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27323401 2325598 Mir21 microRNA 21 gene DOID:9005372 Inflammation ISO RGD:1349265 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29355689 2325598 Mir21 microRNA 21 gene DOID:9005837 Cholangiofibrosis ISO RGD:1349265 D RGD:41404678|PMID:26456596 20210203 RGD RNA:increased expression:urine 2325598 Mir21 microRNA 21 gene DOID:9007325 Cardio-Renal Syndrome ameliorates IMP D RGD:41410821|PMID:28760335 20210216 RGD 2325598 Mir21 microRNA 21 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349265 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325598 Mir21 microRNA 21 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349265 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26101800|PMID:27323401|PMID:27344173|PMID:28881718|PMID:29501572 2325598 Mir21 microRNA 21 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:41410822|PMID:30309483 20210216 RGD 2325598 Mir21 microRNA 21 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:155882541|PMID:19380620 20230127 RGD miRNA:increased expression:heart (rat) 2325598 Mir21 microRNA 21 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325598 Mir21 microRNA 21 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1608349 D RGD:41404665|PMID:24825878 20210202 RGD 2325598 Mir21 microRNA 21 gene DOID:9008510 Chronic Hepatitis ISO RGD:1349265 D RGD:41404642|PMID:21749846 20210129 RGD RNA:increased expression:plasma 2325598 Mir21 microRNA 21 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1608349 D RGD:40925951|PMID:31608064 20210126 RGD 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer ISO RGD:1349265 D RGD:152998900|PMID:22638884 20220630 RGD RNA:increased expression:blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer ISO RGD:1349265 D RGD:153297812|PMID:29928882 20220727 RGD RNA:increased expression:colorectum (human) 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer ISO RGD:1349265 D RGD:40925941|PMID:27876571 20210125 RGD RNA:increased expression:colorectum 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1608349 D RGD:40925941|PMID:27876571 20210125 RGD associated with Fusobacterium Infections 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349265 D RGD:152995509|PMID:19921579 20220627 RGD RNA:increased expression:colorectum (human) 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1349265 D RGD:152995497|PMID:26957558 20220627 RGD RNA:increased expression:colorectum (human) 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer severity ISO RGD:1349265 D RGD:11538337|PMID:26419959 20220627 RGD RNA:increased expression:colorectum (human) 2325598 Mir21 microRNA 21 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1608349 D RGD:152995508|PMID:29552756 20220627 RGD RNA:increased expression:colorectum, blood serum (human) 2325598 Mir21 microRNA 21 gene DOID:9408 acute myocardial infarction ISO RGD:1349265 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:increased expression:peripheral blood mononuclear cell, plasma 2325598 Mir21 microRNA 21 gene DOID:9778 irritable bowel syndrome ISO RGD:1349265 D RGD:41404691|PMID:23826144 20210203 RGD RNA:increased expression:colon 2325598 Mir21 microRNA 21 gene DOID:9970 obesity ISO RGD:1349265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 2325599 Mir19b2 microRNA 19b-2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347760 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325599 Mir19b2 microRNA 19b-2 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1347760 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 2325599 Mir19b2 microRNA 19b-2 gene DOID:12849 autistic disorder ISO RGD:1347760 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325600 Mir17 microRNA 17 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348634 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 2325600 Mir17 microRNA 17 gene DOID:117 heart cancer ameliorates ISO RGD:1607616 D RGD:242905197|PMID:30843379 20230328 RGD 2325600 Mir17 microRNA 17 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1348634 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325600 Mir17 microRNA 17 gene DOID:1936 atherosclerosis treatment ISO RGD:1607616 D RGD:329349304|PMID:30850242 20230504 RGD 2325600 Mir17 microRNA 17 gene DOID:4001 ovarian carcinoma ISO RGD:1348634 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 2325600 Mir17 microRNA 17 gene DOID:6000 congestive heart failure ISO RGD:1348634 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325600 Mir17 microRNA 17 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1607616 D RGD:329349303|PMID:33333415 20230504 RGD 2325600 Mir17 microRNA 17 gene DOID:9001553 Spinal Cord Compression treatment IMP D RGD:329403058|PMID:31115018 20230515 RGD 2325600 Mir17 microRNA 17 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:329403059|PMID:28177765 20230515 RGD 2325600 Mir17 microRNA 17 gene DOID:9001820 Pulmonary Arterial Hypertension severity ISO RGD:1348634 D RGD:329349306|PMID:32600075 20230504 RGD miRNA:increased expression:blood 2325600 Mir17 microRNA 17 gene DOID:9002211 Hyperalgesia severity IMP D RGD:11074685|PMID:26222740 20230504 RGD 2325600 Mir17 microRNA 17 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1607616 D RGD:329349305|PMID:35085690 20230504 RGD 2325600 Mir17 microRNA 17 gene DOID:9006175 Peritoneal Diseases ISO RGD:1348634 D RGD:25823143|PMID:30598338 20200430 RGD associated with end stage renal failure 2325600 Mir17 microRNA 17 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348634 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325600 Mir17 microRNA 17 gene DOID:9008212 Diabetic Foot ISO RGD:1348634 D RGD:9068941 20230504 RGD PMID:36333728|REF_RGD_ID:329349308 2325600 Mir17 microRNA 17 gene DOID:9256 colorectal cancer ISO RGD:1348634 D RGD:9068941 20220929 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325600 Mir17 microRNA 17 gene DOID:9408 acute myocardial infarction treatment IMP D RGD:329403057|PMID:29536180 20230515 RGD 2325600 Mir17 microRNA 17 gene DOID:9452 fatty liver disease ISO RGD:1348634 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325600 Mir17 microRNA 17 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1348634 D RGD:329337383|PMID:23718138 20230502 RGD miRNA:increased expression:plasma cell 2325601 Mir10a microRNA 10a gene DOID:10534 stomach cancer ISO RGD:1348739 D RGD:153344525|PMID:34969361 20220819 RGD mRNA:increased expression:stomach (human) 2325601 Mir10a microRNA 10a gene DOID:11294 arteriovenous malformation ISO RGD:1348739 D RGD:155582214|PMID:23051042 20221013 RGD miRNA:decreased expression:blood plasma (human) 2325601 Mir10a microRNA 10a gene DOID:219 colon cancer disease_progression ISO RGD:1348739 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) 2325601 Mir10a microRNA 10a gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1348739 D RGD:9068941 20220825 RGD miRNA:decreased expression:blood serum (human) PMID:35117730|REF_RGD_ID:153344530 2325601 Mir10a microRNA 10a gene DOID:3021 acute kidney failure ISO RGD:1348739 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325601 Mir10a microRNA 10a gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348739 D RGD:153323343|PMID:32997362 20220818 RGD miRNA:increased expression:esophagus squamous epithelium (human) 2325601 Mir10a microRNA 10a gene DOID:3770 pulmonary fibrosis ISO RGD:1348739 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325601 Mir10a microRNA 10a gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24447120 2325601 Mir10a microRNA 10a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325601 Mir10a microRNA 10a gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325601 Mir10a microRNA 10a gene DOID:9003613 Laryngeal Neoplasms sexual_dimorphism ISO RGD:1348739 D RGD:153344531|PMID:25266939 20220823 RGD miRNA:decreased expression:larynx epithelium (human) 2325601 Mir10a microRNA 10a gene DOID:9005172 Lung Neoplasms ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325601 Mir10a microRNA 10a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325601 Mir10a microRNA 10a gene DOID:9007787 Carcinoid Tumor ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 2325601 Mir10a microRNA 10a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325601 Mir10a microRNA 10a gene DOID:9008939 Breast Neoplasms ISO RGD:1348739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325604 Mirlet7i microRNA let-7i gene DOID:13580 cholestasis ISO RGD:1348497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325604 Mirlet7i microRNA let-7i gene DOID:3021 acute kidney failure ISO RGD:1348497 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 2325604 Mirlet7i microRNA let-7i gene DOID:6000 congestive heart failure ISO RGD:1348497 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325604 Mirlet7i microRNA let-7i gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325604 Mirlet7i microRNA let-7i gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348497 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325604 Mirlet7i microRNA let-7i gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347408 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1347408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1347408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:12849 autistic disorder ISO RGD:1347408 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:9000784 Fibrosis ISO RGD:1607635 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31570982 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:9004603 Atkin Syndrome ISO RGD:1347408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 2325605 Mirlet7f2 microRNA let-7f-2 gene DOID:9007588 Heart Injuries ISO RGD:1607635 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31570982 2325607 Mirlet7b microRNA let-7b gene DOID:0060071 pre-malignant neoplasm ISO RGD:1348805 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325607 Mirlet7b microRNA let-7b gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348805 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 2325607 Mirlet7b microRNA let-7b gene DOID:1059 intellectual disability ISO RGD:1348805 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325607 Mirlet7b microRNA let-7b gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348805 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325607 Mirlet7b microRNA let-7b gene DOID:13580 cholestasis ISO RGD:1348805 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325607 Mirlet7b microRNA let-7b gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348805 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325607 Mirlet7b microRNA let-7b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348805 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28545106|PMID:30125006 2325609 Mir101-2 microRNA 101-2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1347793 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 2325609 Mir101-2 microRNA 101-2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24475105 2325610 Mir135b microRNA 135b gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325610 Mir135b microRNA 135b gene DOID:12849 autistic disorder ISO RGD:1349548 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2325610 Mir135b microRNA 135b gene DOID:9005968 Neuralgia ISO RGD:1349548 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 2325612 Mir129-2 microRNA 129-2 gene DOID:14566 disease of cellular proliferation ISO RGD:1347371 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29212414 2325613 Mir349 microRNA 349 gene DOID:0060071 pre-malignant neoplasm EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325613 Mir349 microRNA 349 gene DOID:11394 adult respiratory distress syndrome EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325613 Mir349 microRNA 349 gene DOID:9001586 Experimental Liver Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325614 Mir344-1 microRNA 344-1 gene DOID:11394 adult respiratory distress syndrome EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325615 Mir342 microRNA 342 gene DOID:6000 congestive heart failure ISO RGD:1348172 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325615 Mir342 microRNA 342 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325615 Mir342 microRNA 342 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348172 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325615 Mir342 microRNA 342 gene DOID:9008939 Breast Neoplasms ISO RGD:1348172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20099276 2325615 Mir342 microRNA 342 gene DOID:9256 colorectal cancer ISO RGD:1348172 D RGD:153344558|PMID:23758639 20220825 RGD RNA:decreased expression:colorectum (human) 2325616 Mir338 microRNA 338 gene DOID:9008104 Cancer Pain IEP D RGD:13463594|PMID:28108674 20171220 RGD RNA:decreased expression:spinal cord: 2325616 Mir338 microRNA 338 gene DOID:9256 colorectal cancer disease_progression IEP D RGD:153344558|PMID:23758639 20220825 RGD RNA:increased expression:colorectum, blood (human) 2325617 Mir148b microRNA 148b gene DOID:10534 stomach cancer disease_progression ISO RGD:1351245 D RGD:155791564|PMID:29587866 20221220 RGD 2325617 Mir148b microRNA 148b gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19487542 2325617 Mir148b microRNA 148b gene DOID:9004009 Reperfusion Injury ISO RGD:1351245 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30308185 2325617 Mir148b microRNA 148b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351245 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2325617 Mir148b microRNA 148b gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325617 Mir148b microRNA 148b gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1351245 D RGD:155791564|PMID:29587866 20221220 RGD associated with stomach cancer; 2325617 Mir148b microRNA 148b gene DOID:9256 colorectal cancer ISO RGD:1351245 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325617 Mir148b microRNA 148b gene DOID:9452 fatty liver disease ISO RGD:1351245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325618 Mir337 microRNA 337 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1351844 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325618 Mir337 microRNA 337 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1351844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325618 Mir337 microRNA 337 gene DOID:1324 lung cancer ISO RGD:1351844 D RGD:9068941 20220715 RGD RNA:increased expression:lung (human) PMID:20237410|REF_RGD_ID:152995484 2325618 Mir337 microRNA 337 gene DOID:13580 cholestasis ISO RGD:1351844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325618 Mir337 microRNA 337 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351844 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325618 Mir337 microRNA 337 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351844 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325618 Mir337 microRNA 337 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 2325618 Mir337 microRNA 337 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1351844 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 2325618 Mir337 microRNA 337 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 2325618 Mir337 microRNA 337 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325619 Mir331 microRNA 331 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1349160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325619 Mir331 microRNA 331 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325619 Mir331 microRNA 331 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1349160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 2325619 Mir331 microRNA 331 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325619 Mir331 microRNA 331 gene DOID:9256 colorectal cancer ISO RGD:1349160 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 2325620 Mir330 microRNA 330 gene DOID:9004610 Acute Lung Injury IEP D RGD:11553933|PMID:24806323 20161018 RGD associated with Disseminated Intravascular Coagulation;RNA:increased expression:lung: 2325620 Mir330 microRNA 330 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 2325622 Mirlet7d microRNA let-7d gene DOID:0060071 pre-malignant neoplasm ISO RGD:1343706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325622 Mirlet7d microRNA let-7d gene DOID:11394 adult respiratory distress syndrome ISO RGD:1343706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2325622 Mirlet7d microRNA let-7d gene DOID:12642 hiatus hernia ISO RGD:1343706 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 2325622 Mirlet7d microRNA let-7d gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1343706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21035526 2325622 Mirlet7d microRNA let-7d gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343706 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325622 Mirlet7d microRNA let-7d gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343706 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 2325623 Mir326 microRNA 326 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348728 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 2325623 Mir326 microRNA 326 gene DOID:1059 intellectual disability ISO RGD:1348728 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2325623 Mir326 microRNA 326 gene DOID:3770 pulmonary fibrosis ISO RGD:1348728 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25926378 2325623 Mir326 microRNA 326 gene DOID:6000 congestive heart failure ISO RGD:1348728 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2325625 Mir323 microRNA 323 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1348331 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 2325625 Mir323 microRNA 323 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1348331 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325625 Mir323 microRNA 323 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1608213 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325625 Mir323 microRNA 323 gene DOID:9002170 Experimental Neoplasms ISO RGD:1608213 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2325724 PVG.LEW-(D1Rat270-D1Rat68)/Kini strain DOID:2377 multiple sclerosis induced IAGP XCO:0000195 D RGD:6892695|PMID:20072140 20100607 RGD 2325724 PVG.LEW-(D1Rat270-D1Rat68)/Kini strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000263 D RGD:6892695|PMID:20072140 20100607 RGD 2325724 PVG.LEW-(D1Rat270-D1Rat68)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL:induced IAGP XCO:0000195, XCO:0000264 D RGD:6892695|PMID:20072140 20100607 RGD compared to PVG.1AV1 2325725 Eae31 Experimental allergic encephalomyelitis QTL 31 qtl DOID:2377 multiple sclerosis IAGP D RGD:6892695|PMID:20072140 20100607 RGD 2325725 Eae31 Experimental allergic encephalomyelitis QTL 31 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:6892695|PMID:20072140 20100607 RGD 2325726 Eae30 Experimental allergic encephalomyelitis QTL 30 qtl DOID:2377 multiple sclerosis IAGP D RGD:6892695|PMID:20072140 20100607 RGD 2325726 Eae30 Experimental allergic encephalomyelitis QTL 30 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:6892695|PMID:20072140 20100607 RGD 2325727 Pia41 Pristane induced arthritis QTL 41 qtl DOID:2377 multiple sclerosis IAGP D RGD:6892695|PMID:20072140 20100607 RGD 2325727 Pia41 Pristane induced arthritis QTL 41 qtl DOID:7148 rheumatoid arthritis IAGP D RGD:6892695|PMID:20072140 20100607 RGD 2325727 Pia41 Pristane induced arthritis QTL 41 qtl DOID:9002457 Experimental Arthritis IDA D RGD:6892695|PMID:20072140 20130430 RGD 2325754 SD-Pax6Sey/Mce strain DOID:10629 microphthalmia IAGP D RGD:1601213|PMID:7981749 20100609 RGD 2325773 WKY.LEW-(D13Arb15-D13Rat58)/Tja strain DOID:10952 nephritis resistance IAGP D RGD:2325762|PMID:20488952 20100610 RGD 2325773 WKY.LEW-(D13Arb15-D13Rat58)/Tja strain DOID:13139 crescentic glomerulonephritis IAGP D RGD:7207870|PMID:22445570 20130212 RGD 2325773 WKY.LEW-(D13Arb15-D13Rat58)/Tja strain DOID:2921 glomerulonephritis resistance IAGP D RGD:2325762|PMID:20488952 20100610 RGD 2325773 WKY.LEW-(D13Arb15-D13Rat58)/Tja strain DOID:576 proteinuria resistance IAGP D RGD:2325762|PMID:20488952 20100610 RGD compared to parental WKY 2325774 WKY.LEW-(D13Arb10-D13Arb15)(D16Rat88-D16Rat40)/Tja strain DOID:10952 nephritis resistance IAGP D RGD:2325762|PMID:20488952 20100610 RGD 2325774 WKY.LEW-(D13Arb10-D13Arb15)(D16Rat88-D16Rat40)/Tja strain DOID:2921 glomerulonephritis resistance IAGP D RGD:2325762|PMID:20488952 20100610 RGD 2325774 WKY.LEW-(D13Arb10-D13Arb15)(D16Rat88-D16Rat40)/Tja strain DOID:576 proteinuria resistance IAGP D RGD:2325762|PMID:20488952 20100610 RGD compared to parental WKY 2325796 SS.LEW-(D3Rat52-D3Chm57)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2325798 SS.LEW-(D10Got112-Igfbp4)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2325801 SS.LEW-(D16Chm36-D16Mit2)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2325801 SS.LEW-(D16Chm36-D16Mit2)/Ayd strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2325803 SS.LEW-(D16Rat112-D16Chm60)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2325803 SS.LEW-(D16Rat112-D16Chm60)/Ayd strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD 2325836 Bp346 Blood pressure QTL 346 qtl DOID:9006024 Hypotension IAGP D RGD:2301185|PMID:18806617 20100611 RGD 2325838 Bp347 Blood pressure QTL 347 qtl DOID:9006024 Hypotension IAGP D RGD:2301185|PMID:18806617 20100611 RGD 2325839 Bp348 Blood pressure QTL 348 qtl DOID:9006024 Hypotension IAGP D RGD:2301185|PMID:18806617 20100611 RGD 2325840 Bp345 Blood pressure QTL 345 qtl DOID:9006024 Hypotension IAGP D RGD:2301185|PMID:18806617 20100611 RGD 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16788101|PMID:26285909 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:0080600 COVID-19 ISO RGD:69121 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:69121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:10591 pre-eclampsia ISO RGD:69121 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:10325 D RGD:10401190|PMID:21492414 20151001 RGD protein:decreased expression:forebrain, hindbrain (mouse) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:69121 D RGD:10401224|PMID:14769913 20151002 RGD mRNA:increased expression:hippocampus (human) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:12858 Huntington's disease ISO RGD:10325 D RGD:10401191|PMID:17213233 20151001 RGD protein:altered localization:liver (mouse) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:12858 Huntington's disease treatment ISO RGD:10325 D RGD:6484269|PMID:21651979 20151001 RGD 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:13533 osteopetrosis ISO RGD:10325 D RGD:10401187|PMID:23580622 20150930 RGD 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:1749 squamous cell carcinoma ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17510391|PMID:21346772 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:224 transient cerebral ischemia IEP D RGD:10401192|PMID:9795105 20151001 RGD mRNA, protein:increased expression:hippocampal pyramidal cell layer (rat) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:3770 pulmonary fibrosis ISO RGD:69121 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:29078374 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:630 genetic disease ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:649 prion disease ISO RGD:10325 D RGD:10401270|PMID:23392676 20151005 RGD mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16288022|PMID:21785164 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9000998 Brain Injuries ISO RGD:10325 D RGD:10401206|PMID:19833158 20151001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10325 D RGD:10401269|PMID:21982926 20151005 RGD protein:increased expression:thigh bone (mouse) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9002884 Emphysema ISO RGD:69121 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:29078374 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9004464 Skin Neoplasms ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9004713 Acute-Phase Reaction IEP D RGD:1625368|PMID:16172914 20070605 RGD 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17510391 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:28492532|PMID:33179473 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:27993330|PMID:28492532|PMID:33179473 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9007456 Female Infertility ISO RGD:69121 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9007801 Diseases of the Aged ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9008824 Sarcopenia ISO RGD:10325 D RGD:10401269|PMID:21982926 20151005 RGD protein:increased expression:thigh muscle (mouse) 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18987666|PMID:19822134|PMID:30420649 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:7240710 20130221 OMIM 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11242107|PMID:12661007|PMID:12692518|PMID:14726504|PMID:15575056|PMID:15902292|PMID:18768433|PMID:18946494|PMID:19731081|PMID:19953636|PMID:21177436|PMID:23716546|PMID:23926458|PMID:24220272|PMID:24728327|PMID:25741868|PMID:26162409|PMID:26721895|PMID:27005833|PMID:27993330|PMID:28250006|PMID:28492532|PMID:29296967|PMID:31867767|PMID:32430494|PMID:33179473|PMID:33345654 2326 Cebpa CCAAT/enhancer binding protein alpha gene DOID:9970 obesity ISO RGD:69121 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:10652 Alzheimer's disease ISO RGD:736208 D RGD:10401229|PMID:12391607 20151002 RGD mRNA:increased expression:hippocampus CA1 (human) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10326 D RGD:10401268|PMID:23911420 20151005 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:11573 listeriosis severity ISO RGD:10326 D RGD:40903039|PMID:17911624 20210106 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:12858 Huntington's disease ISO RGD:10326 D RGD:10401227|PMID:14749423 20151002 RGD protein:increased expression:brain (mouse) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:14262 oral candidiasis susceptibility ISO RGD:10326 D RGD:11079756|PMID:26317211 20210106 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:1725 peritoneum cancer severity ISO RGD:10326 D RGD:11556383|PMID:26514342 20210106 RGD associated with stomach cancer 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:2256 osteochondrodysplasia ISS RGD:10326 D RGD:13592920 20221020 MouseDO 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:2316 brain ischemia ISO RGD:736208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:299 adenocarcinoma ISO RGD:736208 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:3770 pulmonary fibrosis ISO RGD:736208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17177178 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:399 tuberculosis ISO RGD:10326 D RGD:40903038|PMID:28558034 20210106 RGD mRNA:increased expression:lung, spleen (mouse) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:630 genetic disease ISO RGD:736208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:40903042|PMID:30659195 20210106 RGD mRNA: increased expression:liver (human) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:7148 rheumatoid arthritis ISO RGD:736208 D RGD:10401213|PMID:19248099 20151001 RGD protein:increased expression:knee, articular cartilage (human) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:8398 osteoarthritis susceptibility ISO RGD:10326 D RGD:10401214|PMID:22095691 20151001 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9000217 Stomach Neoplasms ISO RGD:736208 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9000784 Fibrosis ISO RGD:736208 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:29266779 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9000918 Disease Progression ISO RGD:736208 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:10326 D RGD:10401206|PMID:19833158 20151001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:736208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9001371 Eosinophilia ISO RGD:10326 D RGD:40903041|PMID:24078688 20210106 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9003936 Cardiomegaly ISO RGD:736208 D RGD:11554173 20220510 CTD CTD Direct Evidence: therapeutic PMID:29266779 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9004484 Sepsis IEP D RGD:625506|PMID:11792653 20101220 RGD protein:increased expression:skeletal muscle 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9005036 Bacteremia ISO RGD:10326 D RGD:40903040|PMID:28784931 20210106 RGD associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9005372 Inflammation ISO RGD:736208 D RGD:10401215|PMID:10370372 20151001 RGD associated with Arthritis, Rheumatoid;protein:increased expression:synovial lining cell, nucleus (human) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9005930 Endotoxemia ISO RGD:10326 D RGD:40903034|PMID:14659593 20210106 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9005930 Endotoxemia treatment IEP D RGD:1625687|PMID:15192048 20210106 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10326 D RGD:40903020|PMID:23626014 20210105 RGD mRNA, protein:increased expression:cornea (mouse) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9007346 Cachexia treatment ISO RGD:10326 D RGD:40903021|PMID:27122162 20210105 RGD 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9007456 Female Infertility ISO RGD:736208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9008824 Sarcopenia ISO RGD:736208 D RGD:10401226|PMID:15687482 20151002 RGD mRNA:increased expression:vastus lateralis muscle (human) 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:934 viral infectious disease ISS RGD:10326 D RGD:13592920 20180518 MouseDO 2327 Cebpb CCAAT/enhancer binding protein beta gene DOID:9452 fatty liver disease ISO RGD:736208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:5394 prolactinoma ISO RGD:736554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21980073 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:630 genetic disease ISO RGD:736554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:684 hepatocellular carcinoma ISO RGD:736554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:9004484 Sepsis IEP D RGD:625506|PMID:11792653 20101220 RGD protein:increased expression:skeletal muscle 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2328 Cebpd CCAAT/enhancer binding protein delta gene DOID:9119 acute myeloid leukemia ISO RGD:736554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17234736 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733093 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16788101 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:0060439 lysinuric protein intolerance ISO RGD:733093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:630 genetic disease ISO RGD:733093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9000056 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain ISO RGD:733093 D RGD:7240710 20220921 OMIM 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9000056 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain ISO RGD:733093 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain PMID:31201888|PMID:4831644 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9000265 Specific Granule Deficiency ISO RGD:733093 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28369034 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9000265 Specific Granule Deficiency ISO RGD:733093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:25741868|PMID:28492532 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:7240710 20190327 OMIM 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:10359588|PMID:11313242|PMID:17244686|PMID:25741868|PMID:26019275|PMID:28492532|PMID:29651288|PMID:32391290|PMID:35726044|PMID:4129798|PMID:7088114|PMID:758416 2329 Cebpe CCAAT/enhancer binding protein epsilon gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733093 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19684604 2330 Cebpg CCAAT/enhancer binding protein gamma gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2330 Cebpg CCAAT/enhancer binding protein gamma gene DOID:630 genetic disease ISO RGD:735927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2331 Cel carboxyl ester lipase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:32906201 2331 Cel carboxyl ester lipase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2331 Cel carboxyl ester lipase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737498 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2331 Cel carboxyl ester lipase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 2331 Cel carboxyl ester lipase gene DOID:0081097 Rafiq syndrome ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 2331 Cel carboxyl ester lipase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 2331 Cel carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:7240710 20130221 OMIM 2331 Cel carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 PMID:16369531|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 2331 Cel carboxyl ester lipase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737498 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 2331 Cel carboxyl ester lipase gene DOID:3153 lipomatosis ISO RGD:737498 D RGD:2313965|PMID:17259390 20091029 RGD associated with Prediabetic State; DNA:deletion:exon 2331 Cel carboxyl ester lipase gene DOID:3652 Leigh disease ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2331 Cel carboxyl ester lipase gene DOID:630 genetic disease ISO RGD:737498 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2331 Cel carboxyl ester lipase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313971|PMID:8446851 20091029 RGD protein:decreased expression:pancreas, 2331 Cel carboxyl ester lipase gene DOID:9006190 Chronic Pancreatitis ISO RGD:737498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25774637 2331 Cel carboxyl ester lipase gene DOID:9351 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 2331 Cel carboxyl ester lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737498 D RGD:2313964|PMID:16369531 20091029 RGD DNA:deletion:exon 2331 Cel carboxyl ester lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 2331 Cel carboxyl ester lipase gene DOID:9744 type 1 diabetes mellitus ISO RGD:737498 D RGD:2313967|PMID:10580419 20091029 RGD 2331 Cel carboxyl ester lipase gene DOID:9744 type 1 diabetes mellitus ISO RGD:737498 D RGD:2313969|PMID:9536927 20091029 RGD protein:increased activity:serum 2331 Cel carboxyl ester lipase gene DOID:9744 type 1 diabetes mellitus ISO RGD:737498 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:18414213|PMID:25741868 2332 Cftr CF transmembrane conductance regulator gene DOID:0050127 sinusitis ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 2332 Cftr CF transmembrane conductance regulator gene DOID:0050127 sinusitis susceptibility ISO RGD:619566 D RGD:4140477|PMID:11773581 20100831 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:0060041 autism spectrum disorder ISO RGD:619566 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2332 Cftr CF transmembrane conductance regulator gene DOID:0060643 primary sclerosing cholangitis susceptibility ISO RGD:619566 D RGD:25671445|PMID:12783301 20200427 RGD associated with inflammatory bowel disease; DNA:misense mutations:multiple 2332 Cftr CF transmembrane conductance regulator gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:619566 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2 PMID:11280952|PMID:12767731|PMID:1380943|PMID:15371902|PMID:15614862|PMID:1712898|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25326635|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:28492532|PMID:28603918 2332 Cftr CF transmembrane conductance regulator gene DOID:0080216 duodenal atresia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duodenal stenosis PMID:10103316|PMID:10425036|PMID:10782933|PMID:10950058|PMID:10963013|PMID:11186891|PMID:11280952|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12400067|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17692578|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33713579|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063 2332 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:7240710 20130221 OMIM 2332 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10878476|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10982968|PMID:11005149|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12014388|PMID:12080183|PMID:12120234|PMID:12127423|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12397022|PMID:12400067|PMID:12422349|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463888|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16189704|PMID:16199547|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17235394|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534 2332 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22842702|PMID:22874010|PMID:22942289|PMID:22950544|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242 2332 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28957316|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31682332|PMID:31788424|PMID:31808782|PMID:31916691|PMID:31980526|PMID:32026723|PMID:32204475|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34350279|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7684641|PMID:7684646|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242 2332 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2307071|PMID:18988797 20091120 RGD mRNA, protein:increased expression:bile duct epithelium 2332 Cftr CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 2332 Cftr CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens IMP D RGD:11566051|PMID:24608905 20161130 RGD associated with Cystic Fibrosis 2332 Cftr CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10875853|PMID:11119745 2332 Cftr CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:11566027|PMID:11119745 20161130 RGD DNA:deletion, nonsense mutations, missense mutations: :multiple 2332 Cftr CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:11566040|PMID:10653141 20161130 RGD DNA:deletion, missense mutations: :multiple 2332 Cftr CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens PMID:10762539|PMID:10875853|PMID:11101688|PMID:12815607|PMID:12955726|PMID:15070876|PMID:16189704|PMID:17331079|PMID:18951463|PMID:20460946|PMID:20837875|PMID:20880762|PMID:21228398|PMID:21520337|PMID:22992668|PMID:23891399|PMID:23974870|PMID:24033266|PMID:25087612|PMID:25741868|PMID:26014425|PMID:26467025|PMID:26708955|PMID:27171515|PMID:27469177|PMID:28492532|PMID:28603918|PMID:28800122|PMID:30873022|PMID:31268981|PMID:33374015|PMID:7539342|PMID:8530001|PMID:8662892|PMID:9239681|PMID:9598638 2332 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:7240710 20200619 OMIM 2332 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10875876|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10993719|PMID:11005149|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11118444|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:12825076|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:1545465|PMID:15463888|PMID:15463898|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15727251|PMID:15738290|PMID:15744523|PMID:15758663|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16137181|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16931591 2332 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17076271|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17617039|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19014821|PMID:1903761|PMID:19092437|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19372188|PMID:1937486|PMID:19406970|PMID:19447078|PMID:19459534|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19910374|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20976528|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21354377|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:22156145|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22573477|PMID:22591852|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175 2332 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:23953609|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27145507|PMID:27158673|PMID:27171515|PMID:27174726|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27812499|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28152038|PMID:28163942|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28465863|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639 2332 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:29216686|PMID:29261177|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31759907|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31883651|PMID:31916691|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32113160|PMID:32126153|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32281737|PMID:32357917|PMID:32414100|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33296276|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34099697|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35109852|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:3716676|PMID:5371902|PMID:63921865|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684644|PMID:7684646|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8829633 2332 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9401110|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:10211 cholelithiasis ISO RGD:619566 D RGD:21408573|PMID:12184527 20200427 RGD mRNA, protein:altered expression:liver (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:10652 Alzheimer's disease ISO RGD:619566 D RGD:11566025|PMID:14757935 20161130 RGD protein:decreased expression:hypothalamus 2332 Cftr CF transmembrane conductance regulator gene DOID:10808 gastric ulcer treatment IDA D RGD:11567229|PMID:23596793 20161202 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:11132 prostatic hypertrophy ISO RGD:619566 D RGD:11566048|PMID:25546515 20161130 RGD protein:decreased expression:prostate gland 2332 Cftr CF transmembrane conductance regulator gene DOID:11372 megacolon ISO RGD:619566 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2332 Cftr CF transmembrane conductance regulator gene DOID:11383 cryptorchidism ISO RGD:10331 D RGD:11567213|PMID:22777528 20161201 RGD mRNA, protein:decreased expression:testis 2332 Cftr CF transmembrane conductance regulator gene DOID:12336 male infertility ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17823699|PMID:18554162 2332 Cftr CF transmembrane conductance regulator gene DOID:12336 male infertility ISO RGD:619566 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11547256|PMID:11883825|PMID:12124706|PMID:15070876|PMID:15858154|PMID:15952991|PMID:15987793|PMID:16429425|PMID:17003641|PMID:17594398|PMID:17617039|PMID:18301294|PMID:18456578|PMID:19014055|PMID:19212293|PMID:19843100|PMID:20021716|PMID:20460946|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22156145|PMID:22310382|PMID:22975760|PMID:22992668|PMID:23082198|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24082139|PMID:25033378|PMID:25087612|PMID:25304080|PMID:25583415|PMID:25741868|PMID:25910067|PMID:26467025|PMID:26526220|PMID:26755536|PMID:26990548|PMID:27086061|PMID:27171515|PMID:27214204|PMID:27469177|PMID:27659740|PMID:27738188|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:31036917|PMID:32414100|PMID:7586569|PMID:7739684|PMID:9804160 2332 Cftr CF transmembrane conductance regulator gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:10331 D RGD:4140389|PMID:20015999 20100825 RGD DNA:mutation: : 2332 Cftr CF transmembrane conductance regulator gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:619566 D RGD:4140482|PMID:11243954 20100831 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:1324 lung cancer susceptibility ISO RGD:619566 D RGD:11566029|PMID:20116881 20161130 RGD DNA:deletion, SNP, haplotype: :p.F508del, rs10487372 (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:13258 typhoid fever susceptibility ISO RGD:619566 D RGD:35673348|PMID:16078047 20200715 RGD DNA:repeats: :CA repeats(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:619566 D RGD:4140401|PMID:9254853 20100827 RGD DNA:insertion:exon:c.3904_3905insT (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency onset ISO RGD:619566 D RGD:4140448|PMID:8535440 20100827 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:13406 pulmonary sarcoidosis ISO RGD:619566 D RGD:4139905|PMID:20722470 20100824 RGD DNA:mutations:whole blood : 2332 Cftr CF transmembrane conductance regulator gene DOID:13564 aspergillosis severity ISO RGD:10331 D RGD:35673332|PMID:22135344 20200714 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:13580 cholestasis IEP D RGD:1599598|PMID:15605366 20070208 RGD mRNA,Protein:increased expression 2332 Cftr CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10856487 2332 Cftr CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:10103316|PMID:10341008|PMID:10425036|PMID:10556281|PMID:10571949|PMID:10653141|PMID:10668931|PMID:10746558|PMID:10782933|PMID:10801389|PMID:10812063|PMID:10869121|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11354633|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11788090|PMID:11883825|PMID:11924117|PMID:12007216|PMID:12014388|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12400067|PMID:12767731|PMID:1283148|PMID:1284534|PMID:1284535|PMID:1284639|PMID:12955726|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:1384326|PMID:14618962|PMID:14685937|PMID:14963811|PMID:14993601|PMID:15070876|PMID:15097853|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15463907|PMID:15482777|PMID:15486385|PMID:15536480|PMID:15618592|PMID:15619635|PMID:15640323|PMID:15775704|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15952991|PMID:15987793|PMID:16020494|PMID:16049310|PMID:16075239|PMID:16126774|PMID:16134171|PMID:16189704|PMID:16263954|PMID:16266832|PMID:16283887|PMID:16429425|PMID:16436643|PMID:16478680|PMID:16481891|PMID:16484308|PMID:1673094|PMID:16778595|PMID:16801189|PMID:16840743|PMID:1695717|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:17314234|PMID:17329263|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17489851|PMID:1756602|PMID:17572159|PMID:17576681|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17662673|PMID:17681820|PMID:17692578|PMID:17719933|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18301294|PMID:18394117|PMID:18456578|PMID:18467194|PMID:18501000|PMID:18507830|PMID:18567645|PMID:18685558|PMID:18687795|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19318035|PMID:1937486|PMID:19406970|PMID:19459534|PMID:19707853|PMID:1977306|PMID:19812525|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20059485|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21198395|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21507732|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21658649|PMID:21679131|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:22156145|PMID:2220803|PMID:22310382|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23420618|PMID:23436935|PMID:2344617|PMID:2349952|PMID:23613805|PMID:23656801|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24082139|PMID:24106596|PMID:24375076|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25287046|PMID:25304080|PMID:25330774|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25697321|PMID:25698453|PMID:2570460 2332 Cftr CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26095523|PMID:26149808|PMID:26277102|PMID:26324139|PMID:26467025|PMID:26526220|PMID:26538069|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26755536|PMID:26800689|PMID:26846474|PMID:26900683|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27171515|PMID:27209008|PMID:27214204|PMID:27298017|PMID:27334259|PMID:27364092|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27659740|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27787503|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28419121|PMID:28456595|PMID:28492530|PMID:28492532|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28655774|PMID:28736296|PMID:28801929|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29504914|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29936070|PMID:29944384|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30888834|PMID:30930780|PMID:30938940|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31980526|PMID:32414100|PMID:32429104|PMID:32761997|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33572515|PMID:33713579|PMID:33972190|PMID:34196078|PMID:34426522|PMID:7506096|PMID:7508183|PMID:7508414|PMID:7509683|PMID:7512860|PMID:7517267|PMID:7522329|PMID:7524913|PMID:7529319|PMID:7533604|PMID:7537148|PMID:7539342|PMID:7540133|PMID:7544320|PMID:7544788|PMID:7560099|PMID:7573058|PMID:7586569|PMID:7599637|PMID:7680769|PMID:7682884|PMID:7683628|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7689013|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8421472|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8740923|PMID:8825927|PMID:8844211|PMID:8886242|PMID:8956039|PMID:8968585|PMID:9108869|PMID:9135274|PMID:9235853|PMID:9259194|PMID:9259197|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9459534|PMID:9493456|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9725922|PMID:9788722|PMID:9804160|PMID:9921909|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:14766 renal agenesis ISO RGD:619566 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11119745 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis IMP D RGD:11566051|PMID:24608905 20161130 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210526 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:4139910|PMID:1380723 20100824 RGD DNA:mutation: : 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:4140428|PMID:7560099 20100826 RGD DNA:deletion:exon:p.F508del(mouse) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:4140481|PMID:11504703 20100831 RGD DNA:mutation:cds:p.G551D (mouse) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:734772|PMID:11823443 19990101 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:1718974|PMID:7560099|PMID:11401894|PMID:11786964|PMID:16463024|PMID:16763370|PMID:17290305|PMID:17347447|PMID:17541014|PMID:18230692|PMID:19309154|PMID:19846789|PMID:21083385|PMID:21303308|PMID:21602569|PMID:31251792 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140422|PMID:19620404 20100825 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140429|PMID:19202204 20100826 RGD DNA:mutations:multiple 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140435|PMID:17902144 20100826 RGD protein:altered expression:lung 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140440|PMID:1380943 20100826 RGD DNA:mutation: :p.N1303K (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140442|PMID:1379413 20100826 RGD DNA:missende mutation:exon:p.G551D (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140464|PMID:9439669 20100830 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:4140465|PMID:9429141 20100830 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:7240710 20130221 OMIM 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:10026154|PMID:10050655|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10425036|PMID:10425081|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10480369|PMID:10515411|PMID:10517260|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10651488|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10862085|PMID:10862786|PMID:10866956|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796430|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11882668|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12089190|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12183675|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12530290|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12651880|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12783301|PMID:12815607|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284477|PMID:1284478|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284627|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19339519|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27049043|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29351449|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29886024|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30348612|PMID:30366773|PMID:30374031 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:30379828|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31759907|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33807078|PMID:33836782|PMID:33919435|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34714360|PMID:34782259|PMID:34888852|PMID:34931337|PMID:34949556|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36174992|PMID:36567205|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619566 D RGD:4140392|PMID:17099022 20100825 RGD DNA:mutations:multiple 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis no_association ISO RGD:619566 D RGD:4140393|PMID:19880712 20100825 RGD DNA:mutation:exon:p.R117H(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:4140394|PMID:2344617 20100825 RGD DNA,protein:mutations,substitutions:exon: 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:4140401|PMID:9254853 20100825 RGD DNA:insertion:exon:c.3904_3905insT (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:4140436|PMID:1370365 20100826 RGD DNA:missense mutation:exon:p.W1282X(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:4140438|PMID:1284535 20100826 RGD DNA:missense mutations: :p.F508C, S1251N 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:4140439|PMID:1283149 20100826 RGD DNA:nonsense mutation:cds;c. 2143delT (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:4140450|PMID:11732487 20100830 RGD DNA:splice-site mutation:intron: 3272-26A>G (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:1724 duodenal ulcer IDA D RGD:1599596|PMID:15905414 20070208 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer no_association ISO RGD:619566 D RGD:2317157|PMID:17072959 20100316 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer onset ISO RGD:619566 D RGD:2317156|PMID:16227367 20100316 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:2841 asthma susceptibility ISO RGD:619566 D RGD:4140387|PMID:20298391 20100825 RGD DNA:deletion: :F508del(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:303 substance-related disorder ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2332 Cftr CF transmembrane conductance regulator gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:619566 D RGD:4140431|PMID:18652532 20100826 RGD DNA:polymorphism:cds:p.M470V(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:3225 tracheal disease ISO RGD:10331 D RGD:4140433|PMID:18450781 20100826 RGD DNA:deletion,mutation: : 2332 Cftr CF transmembrane conductance regulator gene DOID:4450 renal cell carcinoma ISO RGD:619566 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 2332 Cftr CF transmembrane conductance regulator gene DOID:4483 rhinitis ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 2332 Cftr CF transmembrane conductance regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619566 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2332 Cftr CF transmembrane conductance regulator gene DOID:4988 alcoholic pancreatitis ISO RGD:619566 D RGD:11566036|PMID:26089335 20161130 RGD DNA:missense mutations: :p.L1156F, Q1352H (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:4989 pancreatitis ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18360295|PMID:23143602 2332 Cftr CF transmembrane conductance regulator gene DOID:4989 pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis | ClinVar Annotator: match by term: Recurrent pancreatitis PMID:10103316|PMID:10425036|PMID:10601093|PMID:10782933|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10950058|PMID:10963013|PMID:11168024|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12014388|PMID:12127423|PMID:12400067|PMID:12759680|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15097853|PMID:15141088|PMID:15151509|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15463907|PMID:15482777|PMID:15640323|PMID:15857421|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17572159|PMID:17594397|PMID:17681820|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19318346|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20837875|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22591852|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23613805|PMID:23656801|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26436105|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27787503|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29292091|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30230364|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31350925|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:31990467|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33375403|PMID:33468668|PMID:33572515|PMID:33713579|PMID:34405919|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8605891|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063|PMID:9921909 2332 Cftr CF transmembrane conductance regulator gene DOID:5223 infertility ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infertility PMID:10439967|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10970190|PMID:11025834|PMID:11168024|PMID:11303517|PMID:11354633|PMID:11845002|PMID:11883825|PMID:11938439|PMID:12014388|PMID:12127423|PMID:12167682|PMID:12454843|PMID:12752573|PMID:1284535|PMID:1379210|PMID:1384326|PMID:15097853|PMID:15463907|PMID:15537723|PMID:15619635|PMID:15727251|PMID:15857421|PMID:15858154|PMID:16134171|PMID:16193325|PMID:16484308|PMID:17003641|PMID:17489851|PMID:17572159|PMID:17594397|PMID:17681820|PMID:18178635|PMID:18195584|PMID:18501000|PMID:18687795|PMID:19092444|PMID:19587087|PMID:1977306|PMID:20021716|PMID:20460946|PMID:20706124|PMID:20837875|PMID:20932301|PMID:21184098|PMID:21198395|PMID:21499205|PMID:21520337|PMID:21658649|PMID:21804385|PMID:22020151|PMID:22271776|PMID:22427236|PMID:22658665|PMID:22678879|PMID:22975760|PMID:23613805|PMID:23716676|PMID:23721890|PMID:23791427|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24418186|PMID:24451227|PMID:24586523|PMID:24631642|PMID:25033378|PMID:25287046|PMID:25346962|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25963003|PMID:26436105|PMID:26467025|PMID:26538069|PMID:26708955|PMID:26898888|PMID:26900683|PMID:26911355|PMID:27171515|PMID:27214204|PMID:27738188|PMID:27787503|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:28830496|PMID:29589582|PMID:29805046|PMID:30488522|PMID:31088717|PMID:31488014|PMID:31916691|PMID:31990467|PMID:32784480|PMID:33572515|PMID:33768849|PMID:33946859|PMID:34995514|PMID:34996830|PMID:7508183|PMID:7513293|PMID:7517264|PMID:7525963|PMID:7543317|PMID:7682884|PMID:7686336|PMID:7691344|PMID:8605891|PMID:8644755|PMID:9108869|PMID:9272157|PMID:9439669|PMID:9804160|PMID:9921909 2332 Cftr CF transmembrane conductance regulator gene DOID:5419 schizophrenia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2332 Cftr CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:10331 D RGD:11566047|PMID:19012687 20161130 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:619566 D RGD:11566047|PMID:19012687 20161130 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:5733 salpingitis treatment IEP D RGD:11566047|PMID:19012687 20161130 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:5844 myocardial infarction ISO RGD:10331 D RGD:11566046|PMID:23221371 20161130 RGD associated with Myocardial Reperfusion Injury 2332 Cftr CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10103316|PMID:10200050|PMID:10376575|PMID:10425036|PMID:10556281|PMID:10639207|PMID:10668931|PMID:10782933|PMID:10875853|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11491164|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11796591|PMID:11924117|PMID:12400067|PMID:12503104|PMID:12767731|PMID:1370365|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:14551163|PMID:14618962|PMID:14685937|PMID:14993601|PMID:15070876|PMID:15141088|PMID:1518030|PMID:15246977|PMID:15287992|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16020494|PMID:16075239|PMID:16263954|PMID:16272798|PMID:16283068|PMID:16283887|PMID:16478680|PMID:1673094|PMID:16778595|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17234733|PMID:17314234|PMID:17329263|PMID:17475917|PMID:17489851|PMID:1756602|PMID:17576681|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18796364|PMID:19092437|PMID:19176844|PMID:19227414|PMID:19339519|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20031113|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21783433|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2210768|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:2344617|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24243928|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25525159|PMID:25580864|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26199320|PMID:26354092|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27026144|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27707539|PMID:27738188|PMID:27805836|PMID:27895116|PMID:27898234|PMID:28129809|PMID:28152038|PMID:28325531|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29174009|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:29997923|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31682332|PMID:31788424|PMID:31980526|PMID:32281737|PMID:32429104|PMID:32761997 2332 Cftr CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32773111|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33322690|PMID:33365035|PMID:33713579|PMID:34196078|PMID:34426522|PMID:7506096|PMID:7517267|PMID:7520798|PMID:7525450|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7545856|PMID:7560099|PMID:7573058|PMID:7684641|PMID:7684646|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7693946|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8556303|PMID:8659542|PMID:8740923|PMID:8825494|PMID:8844211|PMID:8886242|PMID:9067754|PMID:9135274|PMID:9150159|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9493456|PMID:9536098|PMID:9618063|PMID:9630075|PMID:9725922|PMID:9806422 2332 Cftr CF transmembrane conductance regulator gene DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210526 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:8469 influenza treatment ISO RGD:10331 D RGD:35673331|PMID:23749967 20200714 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease ISO RGD:619566 D RGD:4140445|PMID:7521937 20100827 RGD DNA:mutation:intron 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease ISO RGD:619566 D RGD:4140453|PMID:16678503 20100830 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung disease, non-specific PMID:10445602|PMID:10653141|PMID:10653145|PMID:10875853|PMID:10922395|PMID:10950058|PMID:12127423|PMID:12454843|PMID:12719375|PMID:12940920|PMID:1379210|PMID:14872121|PMID:15151509|PMID:1545465|PMID:15463907|PMID:15536480|PMID:15705292|PMID:15858154|PMID:15987793|PMID:16049310|PMID:16128988|PMID:16189704|PMID:16251901|PMID:16339147|PMID:16741161|PMID:16915933|PMID:17035430|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17235394|PMID:17329263|PMID:17331079|PMID:17413420|PMID:17489851|PMID:17662673|PMID:18193900|PMID:18306312|PMID:18456578|PMID:18716917|PMID:18951463|PMID:19812525|PMID:19910374|PMID:20021716|PMID:20167849|PMID:20460946|PMID:20538955|PMID:20706124|PMID:20977904|PMID:21131649|PMID:21520337|PMID:22427236|PMID:22678879|PMID:22995991|PMID:23420618|PMID:23751316|PMID:23781395|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24586523|PMID:24624459|PMID:25033378|PMID:25060775|PMID:25489051|PMID:25492507|PMID:25569187|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25910067|PMID:26014425|PMID:26089335|PMID:26100556|PMID:26335950|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26500004|PMID:26574590|PMID:26856995|PMID:26990548|PMID:27264265|PMID:27555793|PMID:28194692|PMID:28392015|PMID:28469871|PMID:28492532|PMID:28603918|PMID:28801929|PMID:29174009|PMID:29504914|PMID:29589582|PMID:29805046|PMID:30763667|PMID:30845638|PMID:30888834|PMID:30979466|PMID:31005549|PMID:31213628|PMID:31350925|PMID:31378749|PMID:31674704|PMID:31916691|PMID:32155011|PMID:32357917|PMID:32773111|PMID:32784480|PMID:32819855|PMID:33020115|PMID:33097431|PMID:33144682|PMID:33260873|PMID:33341408|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33946859|PMID:34145097|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:7475569|PMID:7526685|PMID:7529962|PMID:7537150|PMID:7543317|PMID:7739684|PMID:8644755|PMID:9272157|PMID:9797105|PMID:9921909 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease disease_progression ISO RGD:619566 D RGD:4140390|PMID:19952026 20100825 RGD associated with cystic fibrosis; DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease onset ISO RGD:619566 D RGD:4140448|PMID:8535440 20100827 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:4140397|PMID:19843100 20100825 RGD DNA:missense mutation:exon: p.D1152H (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:4140441|PMID:1381442 20100826 RGD associated with cystic fibrosis;DNA:nonsense mutation: :p.R1162X (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:4140446|PMID:7539891 20100827 RGD associated with cystic fibrosis; DNA:mutation: :p.A455E (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:899 choledochal cyst ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 2332 Cftr CF transmembrane conductance regulator gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10331 D RGD:36049750|PMID:28289144 20200716 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10331 D RGD:11566031|PMID:20570219 20161130 RGD associated with Cystic Fibrosis;DNA:deletion: :p.F508del (mouse) 2332 Cftr CF transmembrane conductance regulator gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:12815607|PMID:16199547|PMID:1695717|PMID:20059485|PMID:23974870|PMID:25741868|PMID:27240813|PMID:28492532|PMID:29879995|PMID:31036917|PMID:31131953|PMID:32357917|PMID:7683952|PMID:7691345|PMID:9239681|PMID:9725922 2332 Cftr CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:619566 D RGD:4140395|PMID:19858235 20100825 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:619566 D RGD:4140430|PMID:18703788 20100826 RGD DNA:mutations: : 2332 Cftr CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:619566 D RGD:36049751|PMID:23514810 20200716 RGD DNA:SNP:cds:rs113857788(p.Q1352H)(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:10331 D RGD:2314614|PMID:16804061 20091120 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:9006190 Chronic Pancreatitis ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206817 2332 Cftr CF transmembrane conductance regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:619566 D RGD:11566035|PMID:17981921 20161130 RGD associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 2332 Cftr CF transmembrane conductance regulator gene DOID:9007417 Pseudomonas Infections ISO RGD:10331 D RGD:36049749|PMID:15039325 20200716 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:9007417 Pseudomonas Infections ISO RGD:10331 D RGD:36049752|PMID:11390493 20200716 RGD 2332 Cftr CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis ISO RGD:619566 D RGD:4140484|PMID:10767489 20100831 RGD DNA:deletion: :F508del(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:619566 D RGD:4140475|PMID:15463907 20100831 RGD associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human) 2332 Cftr CF transmembrane conductance regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 2332 Cftr CF transmembrane conductance regulator gene DOID:9008691 Liver Injury treatment ISO RGD:619566 D RGD:25671444|PMID:29415998 20200427 RGD associated with hyperhomocysteinemia, human gene in a mouse model 2332 Cftr CF transmembrane conductance regulator gene DOID:9008939 Breast Neoplasms ISO RGD:619566 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10925568|PMID:12874665|PMID:15905293|PMID:17539902|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26199320|PMID:26467025|PMID:27081564|PMID:27143075|PMID:27171515|PMID:27717243|PMID:28492532|PMID:28502372|PMID:28608624|PMID:29997923|PMID:30379828|PMID:30811104|PMID:31423445|PMID:32777524|PMID:34276759|PMID:35313924 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:7240710 20130221 OMIM 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:28978796|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34782259|PMID:34888852|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039 2332 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:9009073 Diaphragmatic Hernia ISO RGD:619566 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16473863 2332 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:4140457|PMID:12123489 20100830 RGD DNA:polymorphism:splice junction:IVS8 5T (human) 2332 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10819640|PMID:10836331|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:11005149|PMID:11055897|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12080183|PMID:12120234|PMID:12397022|PMID:12400067|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463888|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16189704|PMID:16199547|PMID:16251901|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:1710599|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18507830|PMID:18556774|PMID:18639722|PMID:18687795|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897 2332 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20722470|PMID:20797923|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620 2332 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29805046|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30244528|PMID:30279124|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31788424|PMID:31808782|PMID:31916691|PMID:31980526|PMID:32204475|PMID:32281737|PMID:32357917|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33836782|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34145097|PMID:34426522|PMID:34525262|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7684641|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 2332 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis susceptibility ISO RGD:619566 D RGD:4140447|PMID:7543317 20100827 RGD DNA:mutations, polymorphisms: 2336 Chad chondroadherin gene DOID:630 genetic disease ISO RGD:734435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2338 Chga chromogranin A gene DOID:0050771 pheochromocytoma ISO RGD:730836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11116123 2338 Chga chromogranin A gene DOID:0050771 pheochromocytoma disease_progression ISO RGD:730836 D RGD:6906907|PMID:2189303 20121019 RGD 2338 Chga chromogranin A gene DOID:0080054 achondrogenesis type IA ISO RGD:730836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 2338 Chga chromogranin A gene DOID:10283 prostate cancer susceptibility ISO RGD:730836 D RGD:6906901|PMID:20663522 20121019 RGD DNA:missense mutation:cds:p.E264D (human) 2338 Chga chromogranin A gene DOID:10763 hypertension IEP D RGD:6907055|PMID:10803489 20121024 RGD mRNA, protein:increased expression:adrenal gland medulla, plasma 2338 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:6906900|PMID:20729505 20121019 RGD 2338 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:6907055|PMID:10803489 20121024 RGD protein:creased expression:adrenal gland 2338 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:730836 D RGD:6906897|PMID:21061160 20121019 RGD 2338 Chga chromogranin A gene DOID:10763 hypertension no_association ISO RGD:730836 D RGD:6906902|PMID:20113265 20121019 RGD DNA:polymorphisms:promoter 2338 Chga chromogranin A gene DOID:2986 IgA glomerulonephritis ISO RGD:730836 D RGD:6906902|PMID:20113265 20121019 RGD associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) 2338 Chga chromogranin A gene DOID:3908 lung non-small cell carcinoma ISO RGD:730836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 2338 Chga chromogranin A gene DOID:630 genetic disease ISO RGD:730836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2338 Chga chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:6906898|PMID:20730520 20121019 RGD protein:increased expression:serum 2338 Chga chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:6906903|PMID:18235090 20121019 RGD associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple 2339 Chgb chromogranin B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737067 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 2339 Chgb chromogranin B gene DOID:10283 prostate cancer ISO RGD:737067 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2339 Chgb chromogranin B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 2339 Chgb chromogranin B gene DOID:630 genetic disease ISO RGD:737067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2340 Chm CHM Rab escort protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732475 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2340 Chm CHM Rab escort protein gene DOID:10584 retinitis pigmentosa ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19422966|PMID:23811034|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:9067750 2340 Chm CHM Rab escort protein gene DOID:12849 autistic disorder ISO RGD:732475 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2340 Chm CHM Rab escort protein gene DOID:630 genetic disease ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2340 Chm CHM Rab escort protein gene DOID:8499 night blindness ISO RGD:732475 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Night blindness PMID:25741868 2340 Chm CHM Rab escort protein gene DOID:8501 fundus dystrophy ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1598901|PMID:16199547|PMID:16936131|PMID:19427510|PMID:21905166|PMID:23811034|PMID:25741868|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28112135|PMID:28492532|PMID:28752371|PMID:29555028|PMID:30297895|PMID:30541579|PMID:9067750|PMID:9175730 2340 Chm CHM Rab escort protein gene DOID:9008296 Eye Abnormalities ISO RGD:732475 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 2340 Chm CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:7240710 20130221 OMIM 2340 Chm CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type PMID:1044764|PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1302003|PMID:1598901|PMID:16087855|PMID:16199547|PMID:16936131|PMID:17576681|PMID:18766988|PMID:21905166|PMID:22957832|PMID:23811034|PMID:25741868|PMID:25744334|PMID:25912515|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28492532|PMID:28559085|PMID:29555028|PMID:30995293|PMID:31054281|PMID:32364220|PMID:32487042|PMID:7981670|PMID:8477262|PMID:8832720|PMID:9067750|PMID:9175730|PMID:9536098 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:731068 D RGD:5133415|PMID:17764462 20110615 RGD 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:1059 intellectual disability ISO RGD:731068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:1826 epilepsy ISO RGD:731068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:2316 brain ischemia ISO RGD:731068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18501976 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:2841 asthma ISO RGD:731068 D RGD:5133416|PMID:16931638 20110615 RGD 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:437 myasthenia gravis ISO RGD:731068 D RGD:5133415|PMID:17764462 20110615 RGD 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:630 genetic disease ISO RGD:731068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:9006836 Contracture ISO RGD:731068 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21682298 2342 Chrm1 cholinergic receptor, muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731069 D RGD:734777|PMID:12483218 19990101 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:0050685 small cell carcinoma ISO RGD:734195 D RGD:5133439|PMID:20150622 20110617 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISS RGD:737208 D RGD:13592920 20180518 MouseDO OMIM:155310 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:7240710 20140514 OMIM 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:25741868|PMID:28492532|PMID:31441039 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:11383 cryptorchidism ISO RGD:734195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734195 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:2841 asthma ISO RGD:737208 D RGD:5133438|PMID:18348887 20110617 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:2841 asthma severity ISO RGD:734195 D RGD:5133437|PMID:20394512 20110617 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734195 D RGD:5133441|PMID:19281093 20110617 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:5133442|PMID:17922784 20110617 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:3770 pulmonary fibrosis ISO RGD:734195 D RGD:5133440|PMID:18480105 20110617 RGD 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:5082 liver cirrhosis ISO RGD:734195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:630 genetic disease ISO RGD:734195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734195 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:734195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:9006095 Ascites ISO RGD:734195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 2343 Chrm3 cholinergic receptor, muscarinic 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734195 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:68976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:1059 intellectual disability ISO RGD:68976 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:630 genetic disease ISO RGD:68976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:9000495 Tremor ISO RGD:68976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9920179 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68976 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 2344 Chrm4 cholinergic receptor, muscarinic 4 gene DOID:9008639 Catatonia ISO RGD:68976 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15273762 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:732613 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20372150|PMID:20418890 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:732613 D RGD:150526806|PMID:29993116 20211201 RGD associated with smoking; DNA:SNP::rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:150524362|PMID:19706762 20211130 RGD DNA:SNP: :rs578776(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:151660346|PMID:21747048 20220304 RGD DNA:SNP:exon: (rs1051730) (human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:10534 stomach cancer ISO RGD:732613 D RGD:151347539|PMID:21831520 20220126 RGD DNA:hypermethylation:CpG: 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:11832 visual epilepsy IMP D RGD:1599607|PMID:15469883 20070208 RGD 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer ISO RGD:732613 D RGD:151347454|PMID:23023782 20220125 RGD DNA:SNP:cds:rs3743073(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385676|PMID:18385738|PMID:18385739|PMID:28492532 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer onset ISO RGD:732613 D RGD:151361155|PMID:29416783 20220225 RGD DNA:SNP:exon 2: rs8040868(T>C) (human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:150526806|PMID:29993116 20211201 RGD associated with smoking; DNA:SNP::rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:151347455|PMID:22441734 20220125 RGD associated with smoking; DNA:SNP: :rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:151347534|PMID:19491260 20220126 RGD DNA:haplotype:promoter:rs6495309(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:151347536|PMID:23056235 20220126 RGD DNA:SNP: :rs6495309(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:7240710 20230517 OMIM 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1574 alcohol use disorder ISO RGD:732613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1596 depressive disorder IEP D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:2717 Bloom syndrome ISO RGD:732613 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:732613 D RGD:150527850|PMID:26751916 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:150526806|PMID:29993116 20211201 RGD associated with smoking; DNA:SNP::rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:151347455|PMID:22441734 20220125 RGD associated with smoking; DNA:SNP: :rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:151347536|PMID:23056235 20220126 RGD DNA:SNP: :rs6495309(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:151347538|PMID:23207642 20220126 RGD DNA:SNP: :rs12910984(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732613 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3905 lung carcinoma susceptibility ISO RGD:732613 D RGD:151347533|PMID:24337855 20220126 RGD DNA:SNP: :rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732613 D RGD:151347532|PMID:22722785 20220126 RGD DNA:SNP: :rs6495309(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732613 D RGD:151660346|PMID:21747048 20220304 RGD DNA:SNP:exon: (rs1051730) (human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:150524354|PMID:19223495 20211130 RGD mRNA,protein:decreased expression:lung 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:151347530|PMID:24686516 20220126 RGD protein:increased expression:lung 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:151347535|PMID:25233467 20220126 RGD DNA:SNPs:multiples:multiples (human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:150527848|PMID:20554942 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:151347530|PMID:24686516 20220126 RGD DNA:SNP: :rs8042374(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732613 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:732613 D RGD:151347453|PMID:22280835 20220125 RGD DNA:SNP:cds:rs8040868(human) 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:630 genetic disease ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT ISO RGD:732613 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of PMID:25741868|PMID:28492532|PMID:31708116 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT susceptibility ISO RGD:732613 D RGD:7240710 20230517 OMIM 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732613 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:29666375 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9003420 Carbon Monoxide Poisoning IEP D RGD:151347543|PMID:24704181 20220126 RGD 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9004283 Transplant Rejection IEP D RGD:151347544|PMID:25121092 20220126 RGD 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 2345 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9256 colorectal cancer ISO RGD:732613 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:9425895 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:7240710 20230517 OMIM 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nicotine addiction, protection against PMID:15154117|PMID:25741868|PMID:26467025|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27029629|PMID:27779742|PMID:28492532|PMID:29590070|PMID:31628766|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:7240710 20230517 OMIM 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:16222669|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:26704558|PMID:28492532|PMID:29590070|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23959892|PMID:25607374|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:25741868 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1059 intellectual disability ISO RGD:10356 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:10652 Alzheimer's disease ISO RGD:10356 D RGD:1358509|PMID:15465084 20150216 RGD 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:11832 visual epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12217 Lewy body dementia ISO RGD:10356 D RGD:1358509|PMID:15465084 20150216 RGD 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12849 autistic disorder ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29454195|PMID:31628766 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12823585|PMID:14996991|PMID:17881519 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:535 sleep disorder ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16339034 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:543 dystonia ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404753 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:630 genetic disease ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25282705|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532|PMID:31628766|PMID:9339675 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:863 nervous system disease ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco use disorder PMID:19628475|PMID:21107856|PMID:21683344|PMID:22873564|PMID:24385388|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31628766 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9005372 Inflammation ISO RGD:10356 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:20943775 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:10356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 2346 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence ISO RGD:734445 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20372150 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:734445 D RGD:150526806|PMID:29993116 20211201 RGD associated with smoking; DNA:SNP::rs16969968 (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:150524362|PMID:19706762 20211130 RGD DNA:SNP: :rs16969968(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:150527839|PMID:20587604 20211202 RGD DNA:SNP:intron:rs17486278(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0060001 withdrawal disorder ISO RGD:734445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer ISO RGD:734445 D RGD:153297750|PMID:29193083 20220721 RGD DNA:SNP:exon, intron:rs1051730, rs1847529 (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer ISO RGD:734445 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385738|PMID:18385739|PMID:18618000|PMID:19132693|PMID:19443489|PMID:19706762|PMID:20485328|PMID:20643934|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:150524357|PMID:33419953 20211130 RGD DNA:SNP::rs16969968 (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:150524361|PMID:21448929 20211130 RGD DNA:haplotype:promoter 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:150526806|PMID:29993116 20211201 RGD associated with smoking; DNA:SNP::rs16969968 (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:150527839|PMID:20587604 20211202 RGD DNA:SNP:intron:rs17486278(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:7240710 20230505 OMIM 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1574 alcohol use disorder ISO RGD:734445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2030 anxiety disorder ISO RGD:734445 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:19220484|PMID:29944862 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2717 Bloom syndrome ISO RGD:734445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:303 substance-related disorder ISO RGD:734445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20438829 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:150524357|PMID:33419953 20211130 RGD associated with lung cancer; DNA:SNP::rs16969968 (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:150526806|PMID:29993116 20211201 RGD associated with smoking; DNA:SNP::rs16969968 (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734445 D RGD:151361143|PMID:27610024 20220224 RGD mRNA:increased expression:esophagus (human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:150524358|PMID:23844051 20211130 RGD DNA:SNP: :rs667282(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734445 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:150527849|PMID:23314339 20211203 RGD DNA:SNP: :rs503464(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:734445 D RGD:150527847|PMID:27050379 20211203 RGD DNA:SNP: :rs667282(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:150524354|PMID:19223495 20211130 RGD DNA:SNP:cds: p.D398N (rs1696996)(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:150524356|PMID:23430818 20211130 RGD mRNA:increased expression:lung 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:734445 D RGD:150524359|PMID:19577767 20211130 RGD DNA:SNP:cds: p.D398N(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:150527848|PMID:20554942 20211203 RGD associated with smoking; DNA:SNPs: :rs2036527, rs684513, rs667282(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:150527849|PMID:23314339 20211203 RGD DNA:SNP: :rs503464(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:4556 lung large cell carcinoma ISO RGD:734445 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:734445 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:630 genetic disease ISO RGD:734445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:809 cocaine abuse onset ISO RGD:734445 D RGD:150530292|PMID:32841724 20211207 RGD DNA:SNP:exon:rs16969968(human) 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:150530460|PMID:15652389 20211208 RGD protein:increased expression:spinal nerve 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:734445 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:18519132|PMID:28472521 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9002211 Hyperalgesia ameliorates IMP D RGD:150530460|PMID:15652389 20211208 RGD 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9256 colorectal cancer ISO RGD:734445 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2347 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:734445 D RGD:150527838|PMID:25329654 20211202 RGD DNA:SNP: :rs3841324(human) 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060001 withdrawal disorder ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:20506139|PMID:20506140|PMID:21844811|PMID:22420048|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060321 umbilical hernia ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736847 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:736847 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:736847 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0080600 COVID-19 ISO RGD:736847 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736847 D RGD:8554872 20190903 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25326635|PMID:25741868 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18071042 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:1358509|PMID:15465084 19990101 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10357 D RGD:151708703|PMID:14970827 20220414 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12217 Lewy body dementia ISO RGD:736847 D RGD:1358509|PMID:15465084 20150216 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12849 autistic disorder ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12849 autistic disorder ISO RGD:736847 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1324 lung cancer disease_progression ISO RGD:736847 D RGD:11074492|PMID:25407004 20220412 RGD DNA:CNV:: CNV-3956(human) 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1561 cognitive disorder ameliorates IDA D RGD:151708702|PMID:19158670 20220414 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736847 D RGD:11074492|PMID:25407004 20220412 RGD DNA:CNV:: CNV-3956(human) 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736847 D RGD:151361143|PMID:27610024 20220224 RGD mRNA:increased expression:esophagus (human) 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736847 D RGD:151667905|PMID:33603170 20220412 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:736847 D RGD:151667905|PMID:33603170 20220412 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:736847 D RGD:151667906|PMID:19151195 20220412 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:736847 D RGD:151667908|PMID:19326440 20220412 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:5419 schizophrenia ISO RGD:736847 D RGD:1300376|PMID:9012828 19990101 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:5419 schizophrenia ISO RGD:736847 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:5419 schizophrenia ISS RGD:10357 D RGD:13592920 20180518 MouseDO OMIM:181500 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:630 genetic disease ISO RGD:736847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7148 rheumatoid arthritis IEP D RGD:151676715|PMID:31279484 20220413 RGD mRNA,protein:increased expression:joint, spleen: 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:736847 D RGD:151667912|PMID:18722110 20220412 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8577 ulcerative colitis ISO RGD:736847 D RGD:151667910|PMID:27051591 20220412 RGD mRNA:increased expression:intestine: 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8778 Crohn's disease ISO RGD:736847 D RGD:151667910|PMID:27051591 20220412 RGD mRNA:increased expression:colon: 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000099 Experimental Colitis treatment IMP D RGD:152995414|PMID:29572553 20220620 RGD 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000998 Brain Injuries ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24289814 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19136953 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002211 Hyperalgesia ameliorates IDA D RGD:151708701|PMID:20619541 20220414 RGD associated with sciatic neuropathy; 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898479 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10578459 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21715663 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736847 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18844224 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24089524 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007921 Spina Bifida Cystica ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9008023 Memory Disorders ISO RGD:736847 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18848931 2348 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9256 colorectal cancer ISO RGD:736847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:10562302|PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:7240710 20180822 OMIM 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C PMID:10562302|PMID:25741868|PMID:32504635|PMID:33060286 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:7240710 20180314 OMIM 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:10562302|PMID:14991812|PMID:16199547|PMID:17576681|PMID:17686188|PMID:18414213|PMID:20562457|PMID:25741868|PMID:26467025|PMID:27375219|PMID:27391121|PMID:28492532|PMID:8651643|PMID:8872460|PMID:9536098 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:1059 intellectual disability ISO RGD:733898 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:12177 common variable immunodeficiency ISO RGD:733898 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:2729 dyskeratosis congenita ISO RGD:733898 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733898 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive PMID:28492532 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733898 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:630 genetic disease ISO RGD:733898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 2349 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733898 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060041 autism spectrum disorder ISS RGD:735795 D RGD:13592920 20190516 MouseDO 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:737782|PMID:11104662 20150219 RGD 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:7240710 20130221 OMIM 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 PMID:11062464|PMID:11094099|PMID:11104662|PMID:11906688|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28492532|PMID:9536098 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:20736995|PMID:21703448|PMID:22036597|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1059 intellectual disability ISO RGD:733218 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:10652 Alzheimer's disease ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:12849 autistic disorder ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1540 parathyroid carcinoma ISO RGD:733218 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1826 epilepsy ISO RGD:733218 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26475232|PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:2030 anxiety disorder ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23419392 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3327 partial motor epilepsy ISO RGD:733218 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14996991 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:535 sleep disorder ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12228730 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:5812 MHC class II deficiency ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:630 genetic disease ISO RGD:733218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002395 Hypothermia ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14982698 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21715663 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005219 Abnormal Reflexes ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23419392 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005372 Inflammation ISO RGD:733218 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:20943775 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:733218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 2350 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733218 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:0060001 withdrawal disorder ISO RGD:732764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15537871 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:150527839|PMID:20587604 20211202 RGD DNA:SNP: :rs7178270(human) 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:151361155|PMID:29416783 20220225 RGD DNA:SNP:3'utr: (rs1948)C>T (human) 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1596 depressive disorder IEP D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:2717 Bloom syndrome ISO RGD:732764 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732764 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732764 D RGD:151361143|PMID:27610024 20220224 RGD mRNA:increased expression:esophagus (human) 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:151361154|PMID:22945651 20220225 RGD DNA:hypomethylation:promoter: 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:732764 D RGD:151361148|PMID:23397474 20220224 RGD DNA:SNP:: (rs7178270) (human) 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732764 D RGD:151361147|PMID:25172267 20220224 RGD 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:151361154|PMID:22945651 20220225 RGD DNA:hypomethylation:promoter: 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732764 D RGD:150527851|PMID:20124469 20211203 RGD mRNA:increased expression:lung 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:630 genetic disease ISO RGD:732764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:809 cocaine abuse onset ISO RGD:732764 D RGD:150530292|PMID:32841724 20211207 RGD DNA:SNP::rs950776(human) 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:8618 oral cavity cancer susceptibility ISO RGD:732764 D RGD:151347542|PMID:24505444 20220126 RGD DNA:SNP: :rs578776(human) 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732764 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29666375 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9004283 Transplant Rejection IEP D RGD:151347544|PMID:25121092 20220126 RGD 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 2351 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9256 colorectal cancer ISO RGD:732764 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0060476 Perlman syndrome ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0060835 isolated microphthalmia 6 ISO RGD:733359 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:733359 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:7240710 20170329 OMIM 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C PMID:11435464|PMID:16199547|PMID:16916845|PMID:23108489|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32070632 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:7240710 20180214 OMIM 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B PMID:11435464|PMID:12499478|PMID:16199547|PMID:16916845|PMID:18252226|PMID:18398509|PMID:25264167|PMID:25741868|PMID:28492532 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:7240710 20181024 OMIM 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3A PMID:11782989|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32528171 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733359 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733359 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31560172|PMID:32528171|PMID:8872460 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:630 genetic disease ISO RGD:733359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005246 Paralysis ISO RGD:733359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18694773 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005532 Muscle Weakness ISO RGD:733359 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:7240710 20130221 OMIM 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:11435464|PMID:11782989|PMID:16199547|PMID:16916845|PMID:17576681|PMID:18252226|PMID:18414213|PMID:19526372|PMID:21532570|PMID:23108489|PMID:24033266|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26578207|PMID:28024842|PMID:28492532|PMID:29382405|PMID:29390429|PMID:30467950|PMID:31560172|PMID:32070632|PMID:32360402|PMID:32528171|PMID:8872460|PMID:9536098 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:733359 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism 2352 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733359 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0050941 spastic ataxia 2 ISO RGD:734106 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:734106 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9708546 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:7240710 20180214 OMIM 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11960891|PMID:12417530|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9606190|PMID:9668239|PMID:9708546 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:7240710 20150506 OMIM 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11408331|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16061559|PMID:16087917|PMID:16198106|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:27779167|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30898524|PMID:30931400|PMID:31773638|PMID:31980526|PMID:32721234|PMID:33756069|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9668239|PMID:9708546 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:7240710 20150821 OMIM 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9668239|PMID:9708546 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:734106 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:11408331|PMID:12141316|PMID:12417530|PMID:12536367|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:17363247|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21940170|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9668239|PMID:9708546 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:630 genetic disease ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2353 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:734106 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0060249 scoliosis ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:15704180|PMID:16826520|PMID:22167768|PMID:25741868|PMID:28492532|PMID:31680349 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0060476 Perlman syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080006 bone development disease ISO RGD:732695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16826531 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16826520|PMID:16826531 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:7240710 20130221 OMIM 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pterygium universale PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:33060286|PMID:34440395 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16826520|PMID:16826531 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:15704180|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25326635|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:31354645|PMID:31680349|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16826520 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732695 D RGD:8554872 20170124 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:574 peripheral nervous system disease ISO RGD:732695 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26752647 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:630 genetic disease ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:25326635|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26752647|PMID:27245440|PMID:28492532|PMID:31230720 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:7148 rheumatoid arthritis ISO RGD:732695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:23261301 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:870 neuropathy ISO RGD:732695 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26752647 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:7240710 20130221 OMIM 2354 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 2357 Ckb creatine kinase B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 2357 Ckb creatine kinase B gene DOID:299 adenocarcinoma ISO RGD:730974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2357 Ckb creatine kinase B gene DOID:5409 lung small cell carcinoma ISO RGD:730974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2828370 2357 Ckb creatine kinase B gene DOID:5426 primary ovarian insufficiency ISO RGD:730974 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 2357 Ckb creatine kinase B gene DOID:5844 myocardial infarction ISO RGD:730974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 2357 Ckb creatine kinase B gene DOID:630 genetic disease ISO RGD:730974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2357 Ckb creatine kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:730974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2357 Ckb creatine kinase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 2357 Ckb creatine kinase B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730974 D RGD:1598441|PMID:12039490 20061129 RGD 2357 Ckb creatine kinase B gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 2357 Ckb creatine kinase B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 2357 Ckb creatine kinase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730974 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2358 Ckm creatine kinase, M-type gene DOID:326 ischemia ISO RGD:737472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21912612 2358 Ckm creatine kinase, M-type gene DOID:5844 myocardial infarction ISO RGD:737472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3279722|PMID:12359538 2358 Ckm creatine kinase, M-type gene DOID:630 genetic disease ISO RGD:737472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2358 Ckm creatine kinase, M-type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 2358 Ckm creatine kinase, M-type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737472 D RGD:1598441|PMID:12039490 20061129 RGD 2358 Ckm creatine kinase, M-type gene DOID:9002928 Colonic Neoplasms ISO RGD:737472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2358 Ckm creatine kinase, M-type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:0050424 familial adenomatous polyposis ISO RGD:1346462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561515 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:1346462 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:33208383 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:2717 Bloom syndrome ISO RGD:1346462 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1346462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17975199 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:5426 primary ovarian insufficiency ISO RGD:1346462 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346462 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104|PMID:28492532|PMID:33208383 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346462 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18084292|PMID:30510241 2359 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9256 colorectal cancer ISO RGD:1346462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25741868|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:734112 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:17932099|PMID:18337100|PMID:18337730|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:0080000 muscular disease ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:0080100 congenital myopathy ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:10051520|PMID:10215406|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:14639587|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16629771|PMID:16770776|PMID:17097617|PMID:17107341|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24530047|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26021757|PMID:26036855|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27580824|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29606556|PMID:31054297|PMID:31216405|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9122265|PMID:9158157|PMID:9566422|PMID:9736777 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Becker's disease PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:11840191|PMID:11933197|PMID:12390967|PMID:1379744|PMID:15162127|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25741868|PMID:26096614|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:32117024|PMID:32670189|PMID:34008892|PMID:34106991|PMID:7874130|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:734112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:12390967|PMID:15786415|PMID:17932099|PMID:18337100|PMID:18337730|PMID:18816629|PMID:21387378|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24037712|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28662944|PMID:29606556|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958|PMID:9736777 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:1969 cerebral palsy ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:2106 myotonia congenita ISO RGD:734112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20399394 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:2106 myotonia congenita ISO RGD:734112 D RGD:704389|PMID:7951242 19990101 RGD 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:2106 myotonia congenita ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia generalized | ClinVar Annotator: match by term: Myotonia levior PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:11840191|PMID:11933197|PMID:12390967|PMID:12456816|PMID:1379744|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25741868|PMID:26096614|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:32117024|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:7581380|PMID:7874130|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422|PMID:9736777 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:423 myopathy ISO RGD:734112 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:34008892|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:630 genetic disease ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23810313|PMID:25741868|PMID:26467025|PMID:26502825|PMID:28492532|PMID:31567646 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:6364 migraine ISO RGD:734112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Migraine PMID:10737121|PMID:12163078|PMID:20301529|PMID:25741868|PMID:25749817|PMID:26467025|PMID:28492532|PMID:29606556|PMID:8533761|PMID:8845168 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:734112 D RGD:7240710 20130221 OMIM 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:9001336 Myotonia Congenita, Autosomal Dominant ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar Annotator: match by term: Thomsen's disease PMID:10051520|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:15116370|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16199547|PMID:16321142|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18624224|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25088311|PMID:25741868|PMID:25749817|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27582597|PMID:27614575|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:29935101|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32117034|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9736777 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:9008993 Myotonia ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:10051520|PMID:10690989|PMID:10962018|PMID:12390967|PMID:16321142|PMID:16770776|PMID:17654559|PMID:17932099|PMID:18337100|PMID:18337730|PMID:20301529|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22407275|PMID:22521272|PMID:22641783|PMID:23113340|PMID:23739125|PMID:23933576|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25036107|PMID:25741868|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27199537|PMID:27266866|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:32117024|PMID:32670189|PMID:34106991|PMID:758138|PMID:7581380|PMID:7874130|PMID:8533761|PMID:8845168|PMID:8857727 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:734112 D RGD:7240710 20180117 OMIM 2360 Clcn1 chloride voltage-gated channel 1 gene DOID:9009057 Myotonia Congenita, Autosomal Recessive ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar Annotator: match by term: Myotonia congenita autosomal recessive | ClinVar Annotator: match by term: Myotonia generalized PMID:10051520|PMID:10215406|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10525982|PMID:10533075|PMID:10619717|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:14724190|PMID:15116370|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16321142|PMID:16567465|PMID:16629771|PMID:16770776|PMID:17042925|PMID:17097617|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18579381|PMID:18624224|PMID:18807109|PMID:18816629|PMID:19185184|PMID:19697366|PMID:19882638|PMID:19949657|PMID:20181190|PMID:20301529|PMID:20398785|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21520333|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22246887|PMID:22346025|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22689570|PMID:22790975|PMID:22921319|PMID:22987687|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23225051|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23456831|PMID:23483815|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24530047|PMID:24625573|PMID:24705798|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25487368|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26007199|PMID:26021757|PMID:26036855|PMID:26042048|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26471370|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27580824|PMID:27582597|PMID:27614575|PMID:27639085|PMID:27653901|PMID:27666773|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28600779|PMID:28662944|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29405036|PMID:29424939|PMID:29480456|PMID:29500929|PMID:29606556|PMID:29790872|PMID:29935101|PMID:30243293|PMID:31054297|PMID:31130284|PMID:31216405|PMID:31544778|PMID:31566103|PMID:31567646|PMID:31589614|PMID:31692161|PMID:31732390|PMID:31970219|PMID:32117024|PMID:32214227|PMID:32355288|PMID:32407401|PMID:32466254|PMID:32528171|PMID:32593548|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33263785|PMID:33573884|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:35170402|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9703437|PMID:9736066|PMID:9736777 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:0050753 cerebellar ataxia ISO RGD:733366 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:733366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:733366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:7240710 20230505 OMIM 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 PMID:12612585|PMID:1521363|PMID:15252188|PMID:15505175|PMID:16199547|PMID:16932951|PMID:17567819|PMID:17762171|PMID:19191339|PMID:19200853|PMID:19710712|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23632988|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28488083|PMID:28492532|PMID:29403011|PMID:31589614|PMID:32906206 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:0111546 Currarino syndrome ISO RGD:733366 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:10579 leukodystrophy ISS RGD:736064 D RGD:13592920 20180518 MouseDO 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:1059 intellectual disability ISO RGD:733366 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17762171|PMID:25741868|PMID:28492532 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:12849 autistic disorder ISO RGD:733366 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:1485 cystic fibrosis IDA D RGD:704390|PMID:8811102 19990101 RGD 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:1826 epilepsy ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17762171|PMID:25741868|PMID:28492532 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733366 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:1969 cerebral palsy ISO RGD:733366 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:19191339|PMID:23632988|PMID:25741868|PMID:28492532 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:3070 high grade glioma ISO RGD:733366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:733366 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29403012 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:630 genetic disease ISO RGD:733366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29403011 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:7240710 20190315 OMIM 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:1521363|PMID:17762171|PMID:19191339|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28492532|PMID:29403011|PMID:29403012|PMID:31589614|PMID:32906206 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:7240710 20140911 OMIM 2361 Clcn2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with ataxia PMID:12612585|PMID:15252188|PMID:15505175|PMID:16932951|PMID:17567819|PMID:17576681|PMID:17762171|PMID:19191339|PMID:19710712|PMID:21703448|PMID:23632988|PMID:23707145|PMID:25128180|PMID:25741868|PMID:28337550|PMID:28492532|PMID:28905383|PMID:31589614|PMID:32906206|PMID:9536098 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0050699 Dent disease ISO RGD:733029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10561751|PMID:15719255|PMID:20804101 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0050699 Dent disease ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15814539|PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733029 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:733029 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:7240710 20181017 OMIM 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9734595 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:733029 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:7240710 20130221 OMIM 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure PMID:11136179|PMID:12637640|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9602200|PMID:9734595 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:7240710 20130221 OMIM 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9062355|PMID:9187673|PMID:9734595 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:733029 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:1184 nephrotic syndrome ISO RGD:733029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:12176 goiter ISO RGD:733029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16306076 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:12849 autistic disorder ISO RGD:733029 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:3070 high grade glioma ISO RGD:733029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:447 renal tubular transport disease IDA D RGD:628538|PMID:12475763 19990101 RGD 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:576 proteinuria ISO RGD:733029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15719255 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:630 genetic disease ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10906159|PMID:22876375|PMID:25741868|PMID:25907713|PMID:28166811|PMID:28492532|PMID:9734595 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733029 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:14673707|PMID:25741868|PMID:28492532 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:9001961 Hyperkalemia ISO RGD:733029 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hyperkalemia PMID:25741868 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733029 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:7240710 20130221 OMIM 2362 Clcn5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:10469281|PMID:10906159|PMID:11136179|PMID:12637640|PMID:14569459|PMID:15052463|PMID:15086899|PMID:15719255|PMID:15895257|PMID:16041495|PMID:16247550|PMID:16822791|PMID:16861240|PMID:18038239|PMID:18184518|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:19673950|PMID:19806368|PMID:21305656|PMID:22876375|PMID:24081861|PMID:25001568|PMID:25326635|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:30773290|PMID:31672324|PMID:31674016|PMID:31852738|PMID:32289351|PMID:32683654|PMID:33532864|PMID:35738466|PMID:7874126|PMID:7915957|PMID:8559248|PMID:8950885|PMID:9062355|PMID:9187673|PMID:9259268|PMID:9328929|PMID:9734595|PMID:9853249 2363 Clps colipase gene DOID:0050553 JMP syndrome ISO RGD:731525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2363 Clps colipase gene DOID:630 genetic disease ISO RGD:731525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2363 Clps colipase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314624|PMID:19577003 20091120 RGD 2363 Clps colipase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731525 D RGD:2314627|PMID:16189801 20091120 RGD DNA:polymorphism:exon:p.R109C (human) 2364 Cltc clathrin heavy chain gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 2364 Cltc clathrin heavy chain gene DOID:0050777 Joubert syndrome ISO RGD:732795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 2364 Cltc clathrin heavy chain gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732795 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 2364 Cltc clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:7240710 20190315 OMIM 2364 Cltc clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:17576681|PMID:22831640|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:9536098 2364 Cltc clathrin heavy chain gene DOID:1059 intellectual disability ISO RGD:732795 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2364 Cltc clathrin heavy chain gene DOID:630 genetic disease ISO RGD:732795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1063406|PMID:11955450|PMID:15217342|PMID:15284851|PMID:15858577|PMID:16618797|PMID:16982422|PMID:18762582|PMID:19348700|PMID:19854944|PMID:20206336|PMID:22511880|PMID:22831640|PMID:23911319|PMID:24234437|PMID:24253303|PMID:24870542|PMID:25741868|PMID:26822784|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:8375651|PMID:9147638|PMID:9671304 2364 Cltc clathrin heavy chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732795 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2364 Cltc clathrin heavy chain gene DOID:9008086 Developmental Disabilities ISO RGD:732795 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 2364 Cltc clathrin heavy chain gene DOID:9008582 Developmental Disease ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 2365 Cma1 chymase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 2365 Cma1 chymase 1 gene DOID:10763 hypertension ISO RGD:735367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14620933 2365 Cma1 chymase 1 gene DOID:11335 sarcoidosis ISO RGD:735367 D RGD:5128561|PMID:16446531 20110308 RGD DNA:snp:5' utr:g.-526C>T (human) 2365 Cma1 chymase 1 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:735367 D RGD:5128572|PMID:8759823 20110309 RGD DNA:snp:5' utr:g.-1903G>A rs1800875 (human) 2365 Cma1 chymase 1 gene DOID:1591 renovascular hypertension IEP D RGD:1581745|PMID:15869764 20211223 RGD protein:increased activity:kidney (rat) 2365 Cma1 chymase 1 gene DOID:1682 congenital heart disease ISO RGD:735367 D RGD:5128660|PMID:10508822 20110315 RGD protein:increased expression:lung interstitial tissue, vasculature, mast cell (human) 2365 Cma1 chymase 1 gene DOID:2841 asthma no_association ISO RGD:735367 D RGD:1625397|PMID:15248847 20070606 RGD DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) 2365 Cma1 chymase 1 gene DOID:2841 asthma severity ISO RGD:735367 D RGD:5128804|PMID:20813890 20110317 RGD protein:increased expression:lung epithelium, mast cell (human) 2365 Cma1 chymase 1 gene DOID:2841 asthma susceptibility ISO RGD:735367 D RGD:1625396|PMID:15924217 20070606 RGD DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) 2365 Cma1 chymase 1 gene DOID:3082 interstitial lung disease ISO RGD:735367 D RGD:5128816|PMID:17334631 20110318 RGD protein:increased expression:lung, mast cell (human) 2365 Cma1 chymase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735367 D RGD:5128552|PMID:18783610 20110308 RGD protein:increased expression:respiratory tract epithelium, mast cell (human) 2365 Cma1 chymase 1 gene DOID:3310 atopic dermatitis ISO RGD:735367 D RGD:1625394|PMID:16134991 20070606 RGD DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) 2365 Cma1 chymase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15297733 2365 Cma1 chymase 1 gene DOID:630 genetic disease ISO RGD:735367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2365 Cma1 chymase 1 gene DOID:820 myocarditis ISO RGD:735368 D RGD:5128509|PMID:14578624 20110307 RGD mRNA:increased expression:heart left ventricle (mouse) 2365 Cma1 chymase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 2365 Cma1 chymase 1 gene DOID:9002019 Granuloma IEP D RGD:5128499|PMID:15723097 20060127 RGD mRNA:increased expression:tumor (rat) 2365 Cma1 chymase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735368 D RGD:5128508|PMID:11828013 20110307 RGD mRNA:increased expression:heart left ventricle (mouse) 2365 Cma1 chymase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14620933 2365 Cma1 chymase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735367 D RGD:5128600|PMID:14620933 20110311 RGD human gene in mouse model 2365 Cma1 chymase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2365 Cma1 chymase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5128799|PMID:15337505 20110317 RGD protein:increased expression:mesenteric artery, mast cell (rat) 2365 Cma1 chymase 1 gene DOID:9007278 Anaphylaxis ISO RGD:735367 D RGD:5128820|PMID:17081716 20110318 RGD protein:increased expression:lung, mast cell (human) 2365 Cma1 chymase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735367 D RGD:5128839|PMID:11549546 20110321 RGD protein:increased expression:nasal mucosa, mast cell (human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0050700 cardiomyopathy ISO RGD:619569 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0060500 drug allergy ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20216337 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619569 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:619569 D RGD:14700775|PMID:18926681 20190814 RGD DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:114 heart disease ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:11832 visual epilepsy treatment IMP D RGD:704399|PMID:12663688 20180126 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis IEP D RGD:14700810|PMID:15770136 20190820 RGD protein:decreased expression:liver 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome IMP D RGD:69812|PMID:8599091 19990101 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16952291 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:150429696|PMID:9425227 20210916 RGD DNA:missense mutation, deletions:cds:multiple (human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:7240710 20130221 OMIM 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:10053008|PMID:10464142|PMID:11266082|PMID:11477083|PMID:11901087|PMID:12388192|PMID:12395335|PMID:12942343|PMID:15180328|PMID:15519273|PMID:15821043|PMID:15870973|PMID:16012956|PMID:16199547|PMID:16549534|PMID:16847695|PMID:16952291|PMID:18334920|PMID:18445995|PMID:18673259|PMID:18974617|PMID:20799350|PMID:20849526|PMID:20981092|PMID:21044052|PMID:21449672|PMID:21691255|PMID:22290738|PMID:22318656|PMID:23557583|PMID:24033266|PMID:25087612|PMID:25111166|PMID:25336012|PMID:25741868|PMID:27604170|PMID:27706244|PMID:27882152|PMID:28492532|PMID:28713894|PMID:29499989|PMID:31544333|PMID:9185779|PMID:9425227|PMID:9878557 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome susceptibility ISO RGD:619569 D RGD:1598616|PMID:10053008 20061207 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13250 diarrhea ISO RGD:619569 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis IAGP D RGD:1598571|PMID:12702498 20091124 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis IEP D RGD:11081007|PMID:15057744 20160524 RGD mRNA,protein:decreased expression:intestine: 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis IEP D RGD:1598614|PMID:16037978 20061207 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis IMP D RGD:11081011|PMID:17009103 20160524 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10869290|PMID:17681005|PMID:22521610 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:619569 D RGD:11081007|PMID:15057744 20160524 RGD protein:decreased expression:intestine: 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis treatment IEP D RGD:15090804|PMID:27090119 20200103 RGD mRNA:altered expression:liver (rat) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:1793 pancreatic cancer ISO RGD:619569 D RGD:2317509|PMID:19020751 20100407 RGD mRNA, protein:increased expression:pancreas 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus IEP D RGD:1598613|PMID:16504477 20061207 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16504477 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis no_association ISO RGD:619569 D RGD:14700817|PMID:22178260 20190820 RGD DNA:SNPs:multiple: 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis susceptibility ISO RGD:619569 D RGD:14700816|PMID:17502832 20190820 RGD DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:619569 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder IDA D RGD:1598605|PMID:16899240 20061207 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder IEP D RGD:631914|PMID:8662992 19990101 RGD mRNA, protein:decreased expression:liver 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16611851 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:619569 D RGD:11081004|PMID:15846474 20160524 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619569 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21206495 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:619569 D RGD:11080964|PMID:17534875 20160519 RGD DNA:SNPs: :-24C>T, 3972C>T(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:619569 D RGD:2317508|PMID:19451719 20100407 RGD DNA:polymorphism:exon:c.3972C>T (human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619569 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:630 genetic disease ISO RGD:619569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:7148 rheumatoid arthritis ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:77 gastrointestinal system disease ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:783 end stage renal disease IDA D RGD:2301067|PMID:17135344 20061206 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:619569 D RGD:11080961|PMID:25060527 20160519 RGD DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:863 nervous system disease ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:619569 D RGD:11080999|PMID:23188068 20160523 RGD associated with neoplasm;DNA:SNP:rs12762549(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:619569 D RGD:11080980|PMID:18294295 20160520 RGD associated with neoplasm;DNA:SNP:rs12762549(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004590 Acute Liver Failure IEP D RGD:1598605|PMID:16899240 20160524 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia susceptibility ISO RGD:619569 D RGD:11080978|PMID:20943283 20160520 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11541075|PMID:20487213 20161006 RGD mRNA:decreased expression:liver 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312728|PMID:19356064 20090901 RGD protein: increased expression 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312730|PMID:17664251 20090901 RGD mRNA: increased expression: brain 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005930 Endotoxemia IEP D RGD:1598611|PMID:16572733 20061207 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:619569 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:20216337|PMID:23222202|PMID:25007187|PMID:32387182 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:18466103 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:14700812|PMID:25196354 20190820 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:619569 D RGD:14700814|PMID:17241877 20190820 RGD DNA:polymorphism:promoter:-24C>T(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:14700811|PMID:25152023 20190820 RGD mRNA:decreased expression:liver 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2312736|PMID:15319330 20090901 RGD mRNA: decreased expression: liver 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10368 D RGD:2312726|PMID:18189363 20090901 RGD protein: increased expression 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9452 fatty liver disease IEP D RGD:1598602|PMID:16139386 20061206 RGD 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:987 alopecia ISO RGD:619569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:11080959|PMID:24404132 20160519 RGD DNA:SNP:5'UTR:rs717620(human) 2366 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:11080979|PMID:25007187 20160520 RGD DNA:SNPs: :rs717620(human) 2367 Cnga2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2367 Cnga2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:736824 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2367 Cnga2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0050425 restless legs syndrome ISO RGD:736298 D RGD:6483334|PMID:21570342 20120517 RGD protein:decreased expression:brain 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:7240710 20201111 OMIM 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 PMID:25741868|PMID:32128616 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10554 meningoencephalitis ISO RGD:736299 D RGD:6483338|PMID:19592007 20120518 RGD mRNA, protein:increased expression:brain, cerebrospinal fluid 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10652 Alzheimer's disease ISO RGD:736299 D RGD:6483333|PMID:21918687 20120517 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:13001 carotid stenosis IDA D RGD:6483357|PMID:17936728 20120521 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:736298 D RGD:6483345|PMID:16205370 20120518 RGD protein:decreased expression:brain 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:2377 multiple sclerosis ISO RGD:736298 D RGD:6483339|PMID:19473295 20120518 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:2377 multiple sclerosis ISO RGD:736298 D RGD:6483346|PMID:18676363 20120518 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia ISO RGD:736298 D RGD:6483344|PMID:16389193 20120518 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia no_association ISO RGD:736298 D RGD:6483340|PMID:17306456 20120518 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia susceptibility ISO RGD:736298 D RGD:6483343|PMID:16891421 20120518 RGD DNA:SNP, haplotype:intron: (rs1054092) 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:630 genetic disease ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:640 encephalomyelitis ISO RGD:736299 D RGD:6483347|PMID:18466224 20120518 RGD protein:decreased expression:spinal cord 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9000998 Brain Injuries IEP D RGD:6483336|PMID:20215974 20120517 RGD protein:increased expression:hippocampus 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:6483335|PMID:21107918 20120517 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:6483351|PMID:10650887 20120521 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:6483353|PMID:7541143 20120521 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:6483337|PMID:19747899 20120517 RGD 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9004807 Catatonic Schizophrenia ISO RGD:736298 D RGD:6483331|PMID:22473874 20120517 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006289 Myopia 2 ISO RGD:736298 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopia 2, autosomal dominant 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736298 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2368 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9008639 Catatonia ISO RGD:736299 D RGD:6483331|PMID:22473874 20120517 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18705688 2369 Cnr1 cannabinoid receptor 1 gene DOID:0080855 Parkinsonism IMP D RGD:2314672|PMID:19414037 20091123 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:10603 glucose intolerance ISO RGD:735525 D RGD:11554173 20201217 CTD CTD Direct Evidence: therapeutic PMID:26563389 2369 Cnr1 cannabinoid receptor 1 gene DOID:10763 hypertension IMP D RGD:2314680|PMID:19133994 20091123 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22034972 2369 Cnr1 cannabinoid receptor 1 gene DOID:12858 Huntington's disease ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 2369 Cnr1 cannabinoid receptor 1 gene DOID:13580 cholestasis ISO RGD:735525 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 2369 Cnr1 cannabinoid receptor 1 gene DOID:1561 cognitive disorder ISO RGD:735525 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 2369 Cnr1 cannabinoid receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 2369 Cnr1 cannabinoid receptor 1 gene DOID:1824 status epilepticus IEP D RGD:2314675|PMID:19368833 20091123 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19368833 2369 Cnr1 cannabinoid receptor 1 gene DOID:1875 impotence IMP D RGD:2314634|PMID:17850365 20091120 RGD associated with Diabetes Mellitus, Experimental 2369 Cnr1 cannabinoid receptor 1 gene DOID:2030 anxiety disorder ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15081793|PMID:18690112 2369 Cnr1 cannabinoid receptor 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:735525 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 2369 Cnr1 cannabinoid receptor 1 gene DOID:2234 focal epilepsy IMP D RGD:2314658|PMID:19595742 20091123 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:2377 multiple sclerosis ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12876144 2369 Cnr1 cannabinoid receptor 1 gene DOID:289 endometriosis ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 2369 Cnr1 cannabinoid receptor 1 gene DOID:303 substance-related disorder ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9888857|PMID:18690112|PMID:21513772 2369 Cnr1 cannabinoid receptor 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19509271 2369 Cnr1 cannabinoid receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20498848 2369 Cnr1 cannabinoid receptor 1 gene DOID:418 systemic scleroderma ISO RGD:735525 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 2369 Cnr1 cannabinoid receptor 1 gene DOID:480 movement disease ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10802025 2369 Cnr1 cannabinoid receptor 1 gene DOID:4989 pancreatitis ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 2369 Cnr1 cannabinoid receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11433348|PMID:21863215 2369 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21513772 2369 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:735525 D RGD:1358449|PMID:11803524 19990101 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:735525 D RGD:1626328|PMID:15613777 20070801 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia treatment IDA D RGD:2314639|PMID:19854030 20140106 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:630 genetic disease ISO RGD:735525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2369 Cnr1 cannabinoid receptor 1 gene DOID:750 peptic ulcer disease IDA D RGD:2314640|PMID:19827302 20091120 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:8923 skin melanoma ISO RGD:735525 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28131817 2369 Cnr1 cannabinoid receptor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316199|PMID:18930143 20100128 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9000641 Pain IMP D RGD:2314649|PMID:19661434 20091120 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19193902 2369 Cnr1 cannabinoid receptor 1 gene DOID:9000972 Fever IMP D RGD:2314645|PMID:19681872 20091120 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:735525 D RGD:1626329|PMID:11841893 20070801 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 2369 Cnr1 cannabinoid receptor 1 gene DOID:9001708 Hemorrhagic Shock IMP D RGD:2314664|PMID:19493421 20091123 RGD mRNA, protein:increased expression:aorta, mesenteric artery 2369 Cnr1 cannabinoid receptor 1 gene DOID:9001981 Weight Loss ISO RGD:735525 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31570772|PMID:32365865 2369 Cnr1 cannabinoid receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17572696 2369 Cnr1 cannabinoid receptor 1 gene DOID:9002395 Hypothermia ISO RGD:735525 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9888857|PMID:27149200|PMID:27535976|PMID:31877572 2369 Cnr1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration IEP D RGD:10059347|PMID:18313855 20150813 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11517236|PMID:24211273 2369 Cnr1 cannabinoid receptor 1 gene DOID:9003805 Catalepsy ISO RGD:735525 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10318961|PMID:27149200|PMID:27535976|PMID:31877572 2369 Cnr1 cannabinoid receptor 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:2314674|PMID:19372445 20091123 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9004657 Weight Gain ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20107430 2369 Cnr1 cannabinoid receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16314880|PMID:17596442|PMID:19052543 2369 Cnr1 cannabinoid receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314633|PMID:18401837 20091120 RGD protein:increased expression:hypothalamus, striatum 2369 Cnr1 cannabinoid receptor 1 gene DOID:9006024 Hypotension IMP D RGD:2314676|PMID:19295473 20091123 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9888857 2369 Cnr1 cannabinoid receptor 1 gene DOID:9006095 Ascites IMP D RGD:2314678|PMID:19208344 20091123 RGD associated with Liver Cirrhosis, Experimental 2369 Cnr1 cannabinoid receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735525 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 2369 Cnr1 cannabinoid receptor 1 gene DOID:9007428 Muscle Spasticity ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17220914 2369 Cnr1 cannabinoid receptor 1 gene DOID:9007692 Insulin Resistance IMP D RGD:2314662|PMID:19553924 20091123 RGD associated with Obesity 2369 Cnr1 cannabinoid receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735525 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:29805589|PMID:32751388 2369 Cnr1 cannabinoid receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2316217|PMID:18771032 20100201 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:735525 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 2369 Cnr1 cannabinoid receptor 1 gene DOID:9008753 Intravenous Substance Abuse ISO RGD:735525 D RGD:1358448|PMID:9106242 19990101 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:735525 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 2369 Cnr1 cannabinoid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735525 D RGD:2314632|PMID:18678611 20091120 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9505 cannabis abuse ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19016476 2369 Cnr1 cannabinoid receptor 1 gene DOID:9743 diabetic neuropathy IDA D RGD:2314631|PMID:18810243 20091120 RGD associated with Diabetes Mellitus, Experimental 2369 Cnr1 cannabinoid receptor 1 gene DOID:9923 developmental coordination disorder ISO RGD:735525 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:26460022 2369 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity IMP D RGD:2314630|PMID:19325539 20091120 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:10370 D RGD:2314629|PMID:19530697 20091120 RGD 2369 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18722357 2369 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:1626325|PMID:17405839 20070801 RGD DNA:polymorphism:exon:3813A>G (human) 2369 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity no_association ISO RGD:735525 D RGD:1626326|PMID:17292652 20070801 RGD DNA:polymorphism: :1256C>A, 1419+1G>C (human) 2370 Cntf ciliary neurotrophic factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11951178 2370 Cntf ciliary neurotrophic factor gene DOID:10126 keratoconus ISO RGD:734034 D RGD:8655632|PMID:23489213 20140520 RGD mRNA,protein:increased expression:corneal epithelium: 2370 Cntf ciliary neurotrophic factor gene DOID:10584 retinitis pigmentosa disease_progression IEP D RGD:40818112|PMID:24558606 20210709 RGD associated with lens injury 2370 Cntf ciliary neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:734034 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2370 Cntf ciliary neurotrophic factor gene DOID:12858 Huntington's disease IDA D RGD:628474|PMID:12040055 19990101 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:734034 D RGD:734795|PMID:9121555 19990101 RGD human gene in a cynomolgus monkey model 2370 Cntf ciliary neurotrophic factor gene DOID:150 disease of mental health ISO RGD:734034 D RGD:1358522|PMID:8834105 19990101 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:1686 glaucoma ISO RGD:734034 D RGD:8655853|PMID:19060281 20140521 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:1686 glaucoma ameliorates IDA D RGD:1626115|PMID:14725620 20120827 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:734034 D RGD:1626112|PMID:11890844 20070712 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:737002 D RGD:734796|PMID:11951178 19990101 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:4195 hyperglycemia IEP D RGD:1626119|PMID:1571789 20070712 RGD protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes 2370 Cntf ciliary neurotrophic factor gene DOID:630 genetic disease ISO RGD:734034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2370 Cntf ciliary neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:8655591|PMID:8125754 20140521 RGD 2370 Cntf ciliary neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:734034 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11701153 2370 Cntf ciliary neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:734034 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15372491 2370 Cntf ciliary neurotrophic factor gene DOID:9007692 Insulin Resistance TAS D RGD:1626122|PMID:16675997 20070712 RGD possible therapeutic agent 2370 Cntf ciliary neurotrophic factor gene DOID:9970 obesity ISO RGD:734034 D RGD:1626113|PMID:12404108 20070712 RGD DNA:point mutation:intron:G>A 2370 Cntf ciliary neurotrophic factor gene DOID:9970 obesity no_association ISO RGD:734034 D RGD:1626114|PMID:14747836 20070712 RGD DNA:point mutation:intron:G>A 2371 Col10a1 collagen type X alpha 1 chain gene DOID:0060163 body dysmorphic disorder ISO RGD:735281 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 2371 Col10a1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19035365 2371 Col10a1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:7240710 20130221 OMIM 2371 Col10a1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:34423584|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 2371 Col10a1 collagen type X alpha 1 chain gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:735281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 2371 Col10a1 collagen type X alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:735281 D RGD:1600880|PMID:8004099 20070329 RGD Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R 2371 Col10a1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma ISO RGD:735281 D RGD:150429752|PMID:33324550 20210924 RGD mRNA:increased expression:lung 2371 Col10a1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735281 D RGD:9068941 20210924 RGD PMID:33324550|REF_RGD_ID:150429752 2371 Col10a1 collagen type X alpha 1 chain gene DOID:630 genetic disease ISO RGD:735281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2371 Col10a1 collagen type X alpha 1 chain gene DOID:90 degenerative disc disease IEP D RGD:8661231|PMID:20948465 20150514 RGD 2371 Col10a1 collagen type X alpha 1 chain gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 2371 Col10a1 collagen type X alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip IEP D RGD:10043109|PMID:22670655 20150513 RGD mRNA, protein:increased expression:cartilage 2371 Col10a1 collagen type X alpha 1 chain gene DOID:9009121 lung metastasis ameliorates ISO RGD:735281 D RGD:150429752|PMID:33324550 20210924 RGD associated with H1299 cell 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:735396 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:10486316|PMID:10573014|PMID:20513134|PMID:25240749|PMID:25741868|PMID:28492532 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0080046 Stickler syndrome ISS RGD:735397 D RGD:13592920 20180518 MouseDO OMIM:108300 | OMIM:184840 | OMIM:604841 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:7240710 20230505 OMIM 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:10486316|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:30245029|PMID:32427345|PMID:32756486|PMID:9536098 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:7240710 20230505 OMIM 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type PMID:10486316|PMID:10573014|PMID:10725403|PMID:11668615|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25326635|PMID:25741868|PMID:26377240|PMID:26467025|PMID:27081549|PMID:27081569|PMID:28492532|PMID:30245029|PMID:30919572|PMID:32427345|PMID:32756486|PMID:8872475|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:735396 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9529347 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:7240710 20230505 OMIM 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome PMID:10486316|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:32427345|PMID:32756486|PMID:32963807|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome susceptibility ISO RGD:735396 D RGD:1600881|PMID:9529347 20070329 RGD DNA:SNP:splice junction: 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:735396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:1826 epilepsy ISO RGD:735396 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:735396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:5119 ovarian cyst ISO RGD:735396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:630 genetic disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13520885|PMID:16199547|PMID:17236192|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32427345|PMID:32756486|PMID:9129742|PMID:9529347|PMID:9792885 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:735396 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:17576681|PMID:17999364|PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30753492|PMID:9536098 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:735396 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:8398 osteoarthritis ISS RGD:735397 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:7240710 20230505 OMIM 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28492532|PMID:32427345|PMID:32756486|PMID:9536098 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:7240710 20230505 OMIM 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 37 PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28315471|PMID:28492532|PMID:30245514|PMID:30311386|PMID:32427345|PMID:32756486|PMID:33169910|PMID:33605226|PMID:9536098 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:735396 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386|PMID:33169910 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9005570 Marshall/Stickler Syndrome ISO RGD:735396 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Marshall/Stickler syndrome PMID:10486316|PMID:1536174 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735396 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:735396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17999364 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 2372 Col11a1 collagen type XI alpha 1 chain gene DOID:936 brain disease ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0050553 JMP syndrome ISO RGD:1350403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1350403 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25633957 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:1350403 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1350403 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:12904710|PMID:7859284 20170518 RGD DNA:missense mutation:exon:p.G175R (human) 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:7240710 20131030 OMIM 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:10677296|PMID:15558753|PMID:15922184|PMID:16637051|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:32747562|PMID:7859284|PMID:9188673|PMID:9536098 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:15922184|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080046 Stickler syndrome ISS RGD:1350403 D RGD:13592920 20180518 MouseDO OMIM:108300 | OMIM:184840 | OMIM:604841 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:25741868|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:24033266|PMID:25741868|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:7240710 20150211 OMIM 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:10677296|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22246659|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:9536098 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:12904710|PMID:7859284 20170518 RGD DNA:splice-site mutation:intron 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:7240710 20130221 OMIM 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia PMID:10677296|PMID:14234962|PMID:15372529|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:33297549|PMID:33348901|PMID:7833911|PMID:7859284|PMID:9506662|PMID:9536098|PMID:9805126 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:7240710 20130221 OMIM 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 53 PMID:10677296|PMID:15558753|PMID:16033917|PMID:21204229|PMID:22246659|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:30311386|PMID:31299979|PMID:31680349|PMID:33111345 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:7240710 20130221 OMIM 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 13 PMID:10581026|PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:0110914 infantile hypophosphatasia ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1350403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1350403 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1350403 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:1222 cartilage disease ISO RGD:1350403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11668593 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:14250 Down syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:1682 congenital heart disease ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1350403 D RGD:1600883|PMID:10677296 20070329 RGD otospondylomegaepiphyseal dysplasia, OMIM:215150;DNA:mutations 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:3081 cystic lymphangioma ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cystic hygroma PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1350403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26691295|PMID:28492532|PMID:30311386 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:12436724|PMID:20672350 20170518 RGD DNA:SNPs, haplotypes: :multiple 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:12904711|PMID:22112025 20170518 RGD DNA:SNPs, haplotypes: :rs3129208 (human) 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:8501 fundus dystrophy ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:9003816 Macrocephaly ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24033266|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:9004538 Hearing Loss ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16033917|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33229591 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:9006294 Congenital Limb Deformities ISO RGD:1350403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:9007661 Dwarfism ISO RGD:12245456 D RGD:9068941 20210604 OMIA Skeletal dysplasia 2, COL11A2-related PMID:23527306 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 2373 Col11a2 collagen type XI alpha 2 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1350403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735743 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:735743 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:16199547|PMID:24334604|PMID:25741868|PMID:28492532|PMID:28973083 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:735743 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:735743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bethlem myopathy PMID:25741868|PMID:28492532 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:0110250 cataract 16 multiple types ISO RGD:735743 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cataract 16 multiple types PMID:25741868|PMID:28492532 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:1790 malignant mesothelioma ISO RGD:735743 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:630 genetic disease ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24334604|PMID:25741868|PMID:27348394|PMID:28492532|PMID:28973083 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:7240710 20170419 OMIM 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:16199547|PMID:17576681|PMID:224334604|PMID:24334604|PMID:24334769|PMID:25741868|PMID:26362251|PMID:27159402|PMID:27348394|PMID:28492532|PMID:28973083|PMID:29342313|PMID:29858556|PMID:31127727|PMID:31273343|PMID:33146414|PMID:8601036|PMID:9536098 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735743 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:7240710 20170301 OMIM 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 PMID:24334604|PMID:24334769|PMID:25741868|PMID:28492532|PMID:29858556 2374 Col12a1 collagen type XII alpha 1 chain gene DOID:9008086 Developmental Disabilities ISO RGD:735743 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short ribs PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:29620724|PMID:7695699|PMID:8218237|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:17078022|PMID:17347327|PMID:19344236|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0050817 Stargardt disease ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:16752401|PMID:20513134|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0060221 Maffucci syndrome ISO RGD:734037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:734037 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080011 bone resorption disease ISO RGD:734037 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16189708 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:734037 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:25326635|PMID:25741868 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080027 spondyloepimetaphyseal dysplasia ISS RGD:10373 D RGD:13592920 20180518 MouseDO 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15895462|PMID:16088915|PMID:17078022|PMID:17347327|PMID:17509551|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:30792901|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8486375|PMID:8702139|PMID:8723096|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080044 hypochondrogenesis ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochondrogenesis PMID:1429602|PMID:2572591|PMID:3195588 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080044 hypochondrogenesis ISS RGD:10373 D RGD:13592920 20220428 MouseDO 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11297324 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kniest dysplasia PMID:10406661|PMID:12995812|PMID:17078022|PMID:17347327|PMID:17576681|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:23188137|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29620724|PMID:29758562|PMID:30408610|PMID:4014370|PMID:4214536|PMID:7695699|PMID:7700721|PMID:7849719|PMID:7874117|PMID:7977371|PMID:7981752|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9066888|PMID:9468540|PMID:9536098 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome PMID:24033266|PMID:25741868|PMID:26443184|PMID:28492532|PMID:30311386 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7741714 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta PMID:10797431|PMID:10982970|PMID:11007540|PMID:12429249|PMID:12544472|PMID:12939326|PMID:15054848|PMID:15895462|PMID:16199547|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17994563|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:21472893|PMID:21924244|PMID:22496037|PMID:22522174|PMID:23592912|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27234559|PMID:27390512|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29620724|PMID:30181686|PMID:31755234|PMID:32756486|PMID:34573377|PMID:7695699|PMID:7752132|PMID:7757081|PMID:7829510|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290|PMID:9536098 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:10373 D RGD:8657341|PMID:16546167 20140605 RGD 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:11667954|PMID:12511349 20170119 RGD DNA:insertion:exon:c.2012_2013insC(human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:12436723|PMID:18276201 20170124 RGD DNA:frame shift, missense, nonsense mutations:exons,splicing sites: 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:13524555|PMID:1677770 20140609 RGD DNA:nonsense mutation:exon:p.R732X (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive | ClinVar Annotator: match by term: Stickler syndrome type 1 PMID:10486316|PMID:10706362|PMID:10982970|PMID:11007540|PMID:12544472|PMID:12939326|PMID:14299791|PMID:1444917|PMID:15671297|PMID:15895462|PMID:16189708|PMID:16199547|PMID:16752401|PMID:1677770|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17638425|PMID:17721977|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:19764028|PMID:20131279|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:24664531|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26709265|PMID:26747767|PMID:27183340|PMID:27234559|PMID:27390512|PMID:27408751|PMID:2803268|PMID:28492532|PMID:29095814|PMID:29453956|PMID:30181686|PMID:30311386|PMID:31736238|PMID:31872526|PMID:32071555|PMID:32510848|PMID:32756486|PMID:34008892|PMID:35052477|PMID:7487609|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8406454|PMID:8423604|PMID:8434604|PMID:8702139|PMID:8737653|PMID:8893763|PMID:9016532|PMID:9536098 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8657340|PMID:23592912 20140605 RGD DNA:nonsense mutation:exon:p.C86X (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8657343|PMID:20179744 20140605 RGD DNA:mutations:multiple (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8657352|PMID:12204008 20140605 RGD DNA:deletion:exons: (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8657393|PMID:7487609 20140609 RGD DNA:deletion:exon:g.33524_33526delC (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8657401|PMID:8737653 20140609 RGD DNA:snp:intron:IVS17-2A>G (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8657405|PMID:9800905 20140609 RGD DNA:missense mutation:exon:p.R704C (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:734037 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:25741868 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22496037|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9800905 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:10373 D RGD:11667102|PMID:21538020 20170117 RGD DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant PMID:14729840|PMID:15266623|PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21442341|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome PMID:11746045|PMID:14729840|PMID:15266623|PMID:15316962|PMID:15895462|PMID:17078022|PMID:17347327|PMID:17509551|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:21472893|PMID:21924244|PMID:23079993|PMID:24033266|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:25900302|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8723097|PMID:8893763|PMID:9016532|PMID:9101290 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:7240710 20170419 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SED, STANESCU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26183434|PMID:26420734|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:25741868|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:17078022|PMID:17163530|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26402641|PMID:26443184|PMID:26467025|PMID:26626311|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16189708 2375 Col2a1 collagen type II alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:734037 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:1123 spondyloarthropathy ISO RGD:734037 D RGD:12108857|PMID:7866404 20170124 RGD DNA:missense mutation:exon:p.G274S(human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:11830 myopia ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17653045 2375 Col2a1 collagen type II alpha 1 chain gene DOID:11830 myopia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:22496037|PMID:25741868|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:9800905 2375 Col2a1 collagen type II alpha 1 chain gene DOID:11830 myopia ISO RGD:734037 D RGD:8657390|PMID:17653045 20140609 RGD DNA:snp:intron:g.IVS1-1194A>C (rs1635529) (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:11830 myopia susceptibility ISO RGD:734037 D RGD:12436723|PMID:18276201 20170124 RGD associated with Stickler Syndrome, Type 1; DNA:mutations: exons: 2375 Col2a1 collagen type II alpha 1 chain gene DOID:1222 cartilage disease ISO RGD:734037 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:1459 hypothyroidism treatment IDA D RGD:8661259|PMID:17310101 20140610 RGD 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:10373 D RGD:729929|PMID:12968670 20140605 RGD DNA:missense mutation:cds:p.R1417C (mouse) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:11667105|PMID:23079993 20170117 RGD DNA:missense mutations:cds:p.G504S, p.G801S, p.G1176V (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type PMID:10678662|PMID:11746045|PMID:15643621|PMID:15895462|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:20513134|PMID:21472893|PMID:21924244|PMID:2339128|PMID:24033266|PMID:2543071|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26380986|PMID:26467025|PMID:26626311|PMID:26985960|PMID:27234559|PMID:28492532|PMID:31755234|PMID:32860008|PMID:34008892|PMID:35052477|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290 2375 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:8657353|PMID:21204228 20140605 RGD DNA:missense mutation:cds:p.P986L (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:12544472|PMID:20179744|PMID:22496037|PMID:25741868|PMID:26747767|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:1909 melanoma ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 2375 Col2a1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:10373 D RGD:11667103|PMID:24475193 20170117 RGD DNA:mutation:cds:p.G1170S(mouse) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8486375 2375 Col2a1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:11667106|PMID:15476249 20170117 RGD DNA:missense mutation:cds:p.R519C(human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:2703 synovitis ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 2375 Col2a1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770606 2375 Col2a1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:8657387|PMID:23770606 20140609 RGD DNA:mutations:multiple (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:5327 retinal detachment ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8317498 2375 Col2a1 collagen type II alpha 1 chain gene DOID:5327 retinal detachment ISO RGD:734037 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Retinal detachment 2375 Col2a1 collagen type II alpha 1 chain gene DOID:5327 retinal detachment ISO RGD:734037 D RGD:8657349|PMID:22574936 20140605 RGD DNA:missense mutation:cds:p.C192A (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:5614 eye disease ISO RGD:734037 D RGD:8657386|PMID:19430638 20140609 RGD associated with Toxoplasmosis, Congenital;DNA:snps:multiple (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734037 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:630 genetic disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10353778|PMID:10745044|PMID:12848929|PMID:12925722|PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:1971141|PMID:20179744|PMID:20513134|PMID:22791362|PMID:23079993|PMID:24736929|PMID:25604898|PMID:25741868|PMID:25823796|PMID:25900302|PMID:26250472|PMID:26345137|PMID:26358419|PMID:26626311|PMID:28095098|PMID:28492532|PMID:28738883|PMID:30170566|PMID:31758797|PMID:7550321|PMID:7695699|PMID:7741714|PMID:8218237|PMID:8486375|PMID:9016532|PMID:9724608 2375 Col2a1 collagen type II alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12205109|PMID:12544472|PMID:15895462|PMID:17078022|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:22496037|PMID:25504618|PMID:25604898|PMID:25741868|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27183340|PMID:27234559|PMID:28492532|PMID:34008892|PMID:7695699|PMID:8218237|PMID:8423604|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:674 cleft palate ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15562585 2375 Col2a1 collagen type II alpha 1 chain gene DOID:674 cleft palate susceptibility ISO RGD:734037 D RGD:12436724|PMID:20672350 20170124 RGD DNA:SNP,haplotype:intron:rs1793949(human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:734037 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:27028940|PMID:29935983 2375 Col2a1 collagen type II alpha 1 chain gene DOID:83 cataract ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8317498 2375 Col2a1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9061443|PMID:16189708 2375 Col2a1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis onset ISO RGD:734037 D RGD:8657384|PMID:16755660 20140609 RGD DNA:missense mutation:exon:p.R75C (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis treatment IDA D RGD:8661226|PMID:19216861 20140610 RGD 2375 Col2a1 collagen type II alpha 1 chain gene DOID:848 arthritis ISO RGD:734037 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:17299831|PMID:24144632|PMID:26640276|PMID:36121554 2375 Col2a1 collagen type II alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10706362|PMID:11007540|PMID:15895462|PMID:16199547|PMID:16752401|PMID:20179744|PMID:20513134|PMID:22496037|PMID:22522174|PMID:25741868|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:31736238 2375 Col2a1 collagen type II alpha 1 chain gene DOID:8886 chorioretinitis ISO RGD:734037 D RGD:8657355|PMID:18523590 20140605 RGD associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease IEP D RGD:11570539|PMID:24285589 20161219 RGD 2375 Col2a1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease IEP D RGD:8661231|PMID:20948465 20140610 RGD mRNA:decreased expression:intervertebral disc (rat) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease treatment IDA D RGD:10043178|PMID:19063844 20150518 RGD associated with Renal Insufficiency 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9000197 Edema ISO RGD:734037 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940|PMID:29908986|PMID:29935983 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia PMID:10372559|PMID:15895462|PMID:16155195|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:1975693|PMID:1985108|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7695699|PMID:7757086|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8507190|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9711874 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17078022|PMID:17347327|PMID:19344236|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9001679 Collagenopathy, Type 2 Alpha 1 ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cartilage collagen PMID:15895462|PMID:17078022|PMID:17163530|PMID:17347327|PMID:19344236|PMID:20179744|PMID:20301479|PMID:22791362|PMID:25741868|PMID:26402641|PMID:26443184|PMID:27234559|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:8218237|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:25741868|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9001981 Weight Loss ISO RGD:734037 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:26070417|PMID:29908986 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9002189 High Myopia severity ISO RGD:734037 D RGD:8657342|PMID:19387081 20140605 RGD DNA:snps:multiple (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9002221 Hyperplasia ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25481498 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9002231 Fetal Growth Retardation IEP D RGD:8661261|PMID:22995397 20140610 RGD mRNA:decreased expression:distal epiphyseal plate of femur (rat) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9002457 Experimental Arthritis ISO RGD:734037 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:16200597|PMID:21188452|PMID:23326410|PMID:24709313|PMID:25194622|PMID:25481498|PMID:26070417|PMID:29908986|PMID:29935983 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis IEP D RGD:10046018|PMID:20579363 20150701 RGD mRNA:increased expression:head of femur 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21671384|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003576 Prognathism susceptibility ISO RGD:734037 D RGD:11667107|PMID:24386886 20170117 RGD DNA:SNP: : rs1793953(human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:7240710 20210414 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vitreoretinopathy with phalangeal epiphyseal dysplasia PMID:12205109|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9003722 Bronchial Fistula treatment IDA D RGD:8661658|PMID:24647564 20140611 RGD 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:734037 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26626311|PMID:28492532|PMID:30311386 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005372 Inflammation ISO RGD:734037 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:24144632|PMID:27028940 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:7240710 20141015 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:19764028|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25967556|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:32071555|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:8657344|PMID:18553548 20140605 RGD DNA:missense mutation:cds:p.R275C (c.823C>T) (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11812423 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:8657385|PMID:11812423 20140609 RGD DNA:frameshift mutation:exon:p.C57X (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:8657389|PMID:8317498 20140609 RGD DNA:missense mutation:exon:p.G67D (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9006205 Animal Disease Models ISO RGD:734037 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:17299831 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:7240710 20130221 OMIM 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STICKLER SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Stickler syndrome, type I, nonsyndromic ocular PMID:11007540|PMID:11410667|PMID:15671297|PMID:15895462|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17721977|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:25060605|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26358419|PMID:26443184|PMID:26467025|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8317498|PMID:8702139|PMID:8893763|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9006976 Erythema ISO RGD:734037 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9007109 Rhegmatogenous Retinal Detachment, Autosomal Dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant rhegmatogenous retinal detachment PMID:10982970|PMID:12544472|PMID:12939326|PMID:15671297|PMID:17078022|PMID:19344236|PMID:20179744|PMID:20301479|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9007109 Rhegmatogenous Retinal Detachment, Autosomal Dominant ISO RGD:734037 D RGD:8657388|PMID:15671297 20140609 RGD DNA:missense mutation:exon:p.G318R (human) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:10373 D RGD:11570531|PMID:18678883 20170124 RGD DNA:deletion:cds:p.KT206,207N(mouse) 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:734037 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9007706 MASS Syndrome ISO RGD:734037 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: MASS syndrome PMID:25741868|PMID:28492532 2375 Col2a1 collagen type II alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9061443|PMID:15562585 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0060417 3p deletion syndrome ISO RGD:736660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981737 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:7240710 20130221 OMIM 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 5 PMID:10441569|PMID:10665486|PMID:11865139|PMID:14702351|PMID:15034283|PMID:15159418|PMID:15248101|PMID:16009904|PMID:16199547|PMID:17576681|PMID:18180250|PMID:18414213|PMID:18567859|PMID:20370815|PMID:214017|PMID:21952943|PMID:22088788|PMID:22490774|PMID:22678886|PMID:22759693|PMID:22960500|PMID:23108489|PMID:23371844|PMID:23553736|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:26467025|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30124556|PMID:31345272|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:8390325|PMID:9536098|PMID:9689136|PMID:9758617 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:3635 congenital myasthenic syndrome ISO RGD:736660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10441569|PMID:10665486|PMID:14702351|PMID:15159418|PMID:16199547|PMID:17576681|PMID:18180250|PMID:20370815|PMID:21952943|PMID:22088788|PMID:22678886|PMID:22960500|PMID:23371844|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:30124556|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:9536098|PMID:9689136|PMID:9758617 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:630 genetic disease ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2377 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:856 biotinidase deficiency ISO RGD:736660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 2378 Comp cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670472|PMID:9887340 2378 Comp cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:7240710 20130731 OMIM 2378 Comp cartilage oligomeric matrix protein gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:10405447|PMID:11968079|PMID:12483304|PMID:12768438|PMID:14684695|PMID:15523498|PMID:15756302|PMID:17133256|PMID:19276170|PMID:21834907|PMID:21922596|PMID:21965141|PMID:23562786|PMID:24595329|PMID:25741868|PMID:27330822|PMID:27432013|PMID:28051032|PMID:28492532|PMID:30138938|PMID:30408610|PMID:32686688|PMID:33030144|PMID:7670471|PMID:7670472|PMID:9021009|PMID:9463320 2378 Comp cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670471|PMID:7670472|PMID:9887340 2378 Comp cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:7240710 20130731 OMIM 2378 Comp cartilage oligomeric matrix protein gene DOID:0080047 pseudoachondroplasia ISO RGD:736605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:10405447|PMID:11565064|PMID:11746044|PMID:11746045|PMID:12483304|PMID:12768438|PMID:15756302|PMID:17394206|PMID:17570134|PMID:20936634|PMID:21922596|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:26377240|PMID:28492532|PMID:30138938|PMID:7670471|PMID:7670472|PMID:9463320|PMID:9632164|PMID:9880218|PMID:9921895 2378 Comp cartilage oligomeric matrix protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:736605 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 2378 Comp cartilage oligomeric matrix protein gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11565064|PMID:12483304|PMID:14684695|PMID:15756302|PMID:17570134|PMID:21834907|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:28051032|PMID:28492532|PMID:32686688|PMID:9021009|PMID:9463320 2378 Comp cartilage oligomeric matrix protein gene DOID:12721 multiple epiphyseal dysplasia ISS RGD:736605 D RGD:13592920 20180518 MouseDO OMIM:132400 | OMIM:226900 | OMIM:600204 | OMIM:600969 | OMIM:607078 | OMIM:614135 2378 Comp cartilage oligomeric matrix protein gene DOID:2256 osteochondrodysplasia ISO RGD:736605 D RGD:1600702|PMID:7670471 20070323 RGD pseudoachondroplasia, OMIM:177170, D472Y, C468Y, 1400-1402delTCA 2378 Comp cartilage oligomeric matrix protein gene DOID:2256 osteochondrodysplasia ISO RGD:736605 D RGD:1600705|PMID:7670472 20070323 RGD multiple epiphyseal dysplasia EDM1, OMIM:132400,D342Y 2378 Comp cartilage oligomeric matrix protein gene DOID:2256 osteochondrodysplasia ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11565064|PMID:12483304|PMID:14684695|PMID:15756302|PMID:17570134|PMID:21834907|PMID:21965141|PMID:23956175|PMID:24595329|PMID:25741868|PMID:28051032|PMID:28492532|PMID:32686688|PMID:9021009|PMID:9463320 2378 Comp cartilage oligomeric matrix protein gene DOID:630 genetic disease ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15756302|PMID:19276170|PMID:24595329|PMID:25741868|PMID:28492532 2378 Comp cartilage oligomeric matrix protein gene DOID:65 connective tissue disease ISO RGD:736605 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 2378 Comp cartilage oligomeric matrix protein gene DOID:8398 osteoarthritis ISO RGD:736605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670472 2378 Comp cartilage oligomeric matrix protein gene DOID:9003916 Carpal Tunnel Syndrome 2 ISO RGD:736605 D RGD:7240710 20210203 OMIM 2378 Comp cartilage oligomeric matrix protein gene DOID:9003916 Carpal Tunnel Syndrome 2 ISO RGD:736605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 2 PMID:12483304|PMID:14684695|PMID:21834907|PMID:21965141|PMID:24595329|PMID:25741868|PMID:28492532|PMID:32686688 2378 Comp cartilage oligomeric matrix protein gene DOID:9005077 Joint Instability ISO RGD:736605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9887340 2378 Comp cartilage oligomeric matrix protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736605 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28319091 2378 Comp cartilage oligomeric matrix protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:736605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:0050771 pheochromocytoma ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 2379 Comt catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:737102 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2379 Comt catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:737102 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 2379 Comt catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:737102 D RGD:13451123|PMID:25325218 20171115 RGD associated with velocardiofacial syndrome;DNA:polymorphism:cds:rs4680(p.V158M)(human) 2379 Comt catechol-O-methyltransferase gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 2379 Comt catechol-O-methyltransferase gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 2379 Comt catechol-O-methyltransferase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737102 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:0080855 Parkinsonism IMP D RGD:2289785|PMID:15698633 20080211 RGD 2379 Comt catechol-O-methyltransferase gene DOID:0111996 immunodeficiency 51 ISO RGD:737102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:10283 prostate cancer disease_progression ISO RGD:737102 D RGD:2289720|PMID:16126332 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:10283 prostate cancer no_association ISO RGD:737102 D RGD:2289719|PMID:17507624 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:10283 prostate cancer susceptibility ISO RGD:737102 D RGD:2289718|PMID:16492910 20080208 RGD DNA:polymorphism:cds 2379 Comt catechol-O-methyltransferase gene DOID:1059 intellectual disability ISO RGD:737102 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2379 Comt catechol-O-methyltransferase gene DOID:10591 pre-eclampsia ISS RGD:10378 D RGD:13592920 20180518 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 2379 Comt catechol-O-methyltransferase gene DOID:10763 hypertension IDA D RGD:8662344|PMID:17510509 20140619 RGD 2379 Comt catechol-O-methyltransferase gene DOID:10763 hypertension IEP D RGD:2289729|PMID:17978496 20080211 RGD protein:increased expression:cerebral cortex 2379 Comt catechol-O-methyltransferase gene DOID:10763 hypertension IEP D RGD:2289787|PMID:14714585 20080211 RGD 2379 Comt catechol-O-methyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:737102 D RGD:2289742|PMID:17143180 20080208 RGD DNA:polymorphism: :-1187G>C, 186C>T 2379 Comt catechol-O-methyltransferase gene DOID:10933 obsessive-compulsive disorder ISO RGD:737102 D RGD:1300383|PMID:11840516 19990101 RGD 2379 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10490706 2379 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:737102 D RGD:13450946|PMID:24035255 20171114 RGD DNA:polymorphism:cds:p.V158M(human) 2379 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:737102 D RGD:13450945|PMID:19946713 20171114 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) 2379 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737102 D RGD:13451120|PMID:27121430 20171115 RGD 2379 Comt catechol-O-methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:737102 D RGD:2289726|PMID:15596044 20080208 RGD protein:increased expression:urinary bladder, urine 2379 Comt catechol-O-methyltransferase gene DOID:11198 DiGeorge syndrome ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8886163 2379 Comt catechol-O-methyltransferase gene DOID:11198 DiGeorge syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 2379 Comt catechol-O-methyltransferase gene DOID:11372 megacolon ISO RGD:737102 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2379 Comt catechol-O-methyltransferase gene DOID:11612 polycystic ovary syndrome ISO RGD:737102 D RGD:2289711|PMID:17535988 20080208 RGD protein:increased expression:ovary 2379 Comt catechol-O-methyltransferase gene DOID:12129 bulimia nervosa susceptibility ISO RGD:737102 D RGD:13451125|PMID:21300128 20171115 RGD DNA:SNPs,haplotype: 2379 Comt catechol-O-methyltransferase gene DOID:12306 vitiligo ISO RGD:737102 D RGD:8662333|PMID:19112571 20140619 RGD DNA:polymorphism: :p.V158M (human) 2379 Comt catechol-O-methyltransferase gene DOID:12306 vitiligo no_association ISO RGD:737102 D RGD:8662336|PMID:24915010 20140619 RGD DNA:polymorphism: :p.V158M (human) 2379 Comt catechol-O-methyltransferase gene DOID:12583 velocardiofacial syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 2379 Comt catechol-O-methyltransferase gene DOID:127 leiomyoma ISO RGD:737102 D RGD:2289717|PMID:16730007 20080208 RGD protein:increased expression:myometrium 2379 Comt catechol-O-methyltransferase gene DOID:127 leiomyoma susceptibility ISO RGD:737102 D RGD:2289780|PMID:16443508 20080211 RGD associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16917939 2379 Comt catechol-O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:737102 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2379 Comt catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:13078 eumycotic mycetoma severity ISO RGD:737102 D RGD:8662334|PMID:20184498 20140619 RGD DNA:missense mutation:cds: (rs4680) (human) 2379 Comt catechol-O-methyltransferase gene DOID:1380 endometrial cancer ISO RGD:737102 D RGD:2289723|PMID:12810635 20080208 RGD DNA:hypermethylation:promoter 2379 Comt catechol-O-methyltransferase gene DOID:1380 endometrial cancer no_association ISO RGD:737102 D RGD:2289721|PMID:15285606 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:1380 endometrial cancer susceptibility ISO RGD:737102 D RGD:2289714|PMID:17442187 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:150 disease of mental health ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16780746 2379 Comt catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17123785 2379 Comt catechol-O-methyltransferase gene DOID:1561 cognitive disorder severity ISO RGD:737102 D RGD:8662329|PMID:16542182 20140619 RGD associated with Bipolar Disorder;DNA:polymorphism: :p.V158M (human) 2379 Comt catechol-O-methyltransferase gene DOID:1574 alcohol use disorder ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10395222 2379 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer ISO RGD:737102 D RGD:2289712|PMID:17507616 20080208 RGD mRNA:increased expression:breast 2379 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer disease_progression ISO RGD:737102 D RGD:2289715|PMID:17429315 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer no_association ISO RGD:737102 D RGD:2289721|PMID:15285606 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:737102 D RGD:2289710|PMID:17562079 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:1826 epilepsy ISO RGD:737102 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2379 Comt catechol-O-methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737102 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 2379 Comt catechol-O-methyltransferase gene DOID:2213 hemorrhagic disease ISO RGD:737102 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 2379 Comt catechol-O-methyltransferase gene DOID:2394 ovarian cancer ISO RGD:737102 D RGD:2289722|PMID:15010821 20080208 RGD mRNA:increased expression:ovary 2379 Comt catechol-O-methyltransferase gene DOID:2394 ovarian cancer no_association ISO RGD:737102 D RGD:2289725|PMID:11142424 20080208 RGD DNA:polymorphism:exon:p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:2394 ovarian cancer susceptibility ISO RGD:737102 D RGD:2289724|PMID:12036914 20080208 RGD DNA:polymorphism: :p.V158M 2379 Comt catechol-O-methyltransferase gene DOID:3312 bipolar disorder ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11772685 2379 Comt catechol-O-methyltransferase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:737102 D RGD:2289716|PMID:17220335 20080208 RGD DNA:polymorphism:exon 2379 Comt catechol-O-methyltransferase gene DOID:4676 uremia ISO RGD:737102 D RGD:8662343|PMID:7437264 20140619 RGD protein:increased activity:erythrocyte 2379 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16234811|PMID:17123785|PMID:18583979|PMID:20561508 2379 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia ISO RGD:737102 D RGD:1300384|PMID:12402217 19990101 RGD DNA:SNPs, haplotype 2379 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:21681106|PMID:25741868|PMID:30208311|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 2379 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia susceptibility ISO RGD:737102 D RGD:8662335|PMID:19881467 20140619 RGD DNA:missense mutation:cds: (rs6267) (human) 2379 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia treatment ISO RGD:737102 D RGD:11353078|PMID:26255563 20171115 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) 2379 Comt catechol-O-methyltransferase gene DOID:594 panic disorder ISO RGD:737102 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2379 Comt catechol-O-methyltransferase gene DOID:594 panic disorder ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:25741868|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 2379 Comt catechol-O-methyltransferase gene DOID:612 primary immunodeficiency disease ISO RGD:737102 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 2379 Comt catechol-O-methyltransferase gene DOID:630 genetic disease ISO RGD:737102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2379 Comt catechol-O-methyltransferase gene DOID:631 fibromyalgia severity ISO RGD:737102 D RGD:13450944|PMID:24762091 20171114 RGD DNA:polymorphism:cds:p.V158M(human) 2379 Comt catechol-O-methyltransferase gene DOID:670 amphetamine abuse ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 2379 Comt catechol-O-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 2379 Comt catechol-O-methyltransferase gene DOID:8893 psoriasis ISO RGD:737102 D RGD:8662328|PMID:24001377 20140619 RGD 2379 Comt catechol-O-methyltransferase gene DOID:9000081 Lymphatic Metastasis ISO RGD:737102 D RGD:8662330|PMID:10755383 20140619 RGD associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human) 2379 Comt catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10378 D RGD:2289734|PMID:6337293 20080208 RGD protein:increased expression:mammary gland, cytoplasm 2379 Comt catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18424824 2379 Comt catechol-O-methyltransferase gene DOID:9000439 Schizophrenia Spectrum and Other Psychotic Disorders ISO RGD:737102 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 2379 Comt catechol-O-methyltransferase gene DOID:9000641 Pain IMP D RGD:2289747|PMID:17084978 20080208 RGD 2379 Comt catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 2379 Comt catechol-O-methyltransferase gene DOID:9000641 Pain severity ISO RGD:737102 D RGD:13450948|PMID:24290452 20171114 RGD associated with Multiple Sclerosis;DNA:polymorphism:cds:rs4680(p.V158M)(human) 2379 Comt catechol-O-methyltransferase gene DOID:9000998 Brain Injuries IEP D RGD:2289740|PMID:17240060 20080208 RGD protein:increased expression:hippocampus 2379 Comt catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:10378 D RGD:8662326|PMID:20726980 20140619 RGD 2379 Comt catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:737102 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 2379 Comt catechol-O-methyltransferase gene DOID:9002231 Fetal Growth Retardation ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23667712 2379 Comt catechol-O-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2379 Comt catechol-O-methyltransferase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10378 D RGD:13450949|PMID:25242632 20171114 RGD 2379 Comt catechol-O-methyltransferase gene DOID:9003392 Neck Pain severity ISO RGD:737102 D RGD:8662332|PMID:21898113 20140619 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) 2379 Comt catechol-O-methyltransferase gene DOID:9003805 Catalepsy IMP D RGD:2289788|PMID:12711835 20080211 RGD 2379 Comt catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis ISO RGD:737102 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 2379 Comt catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:737102 D RGD:2289709|PMID:18064318 20080208 RGD DNA:polymorphism: :324G>A 2379 Comt catechol-O-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737102 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2379 Comt catechol-O-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 2379 Comt catechol-O-methyltransferase gene DOID:9005228 Musculoskeletal Pain ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 2379 Comt catechol-O-methyltransferase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18704099 2379 Comt catechol-O-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2289789|PMID:12010186 20080211 RGD protein:decreased expression:liver 2379 Comt catechol-O-methyltransferase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 2379 Comt catechol-O-methyltransferase gene DOID:9006617 Fatigue severity ISO RGD:737102 D RGD:8662332|PMID:21898113 20140619 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) 2379 Comt catechol-O-methyltransferase gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:737102 D RGD:13451124|PMID:22070166 20171115 RGD associated with Fetal Growth Retardation; DNA:polymorphism:cds:rs4680(p.V158M)(human) 2379 Comt catechol-O-methyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7241599|PMID:21138988 20190508 RGD protein:decreased expression:liver 2379 Comt catechol-O-methyltransferase gene DOID:9007661 Dwarfism ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 2379 Comt catechol-O-methyltransferase gene DOID:9008023 Memory Disorders ISO RGD:737102 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 2379 Comt catechol-O-methyltransferase gene DOID:9008359 Acute Pain susceptibility ISO RGD:737102 D RGD:13450943|PMID:25102390 20171114 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.V158M(human) 2379 Comt catechol-O-methyltransferase gene DOID:9008394 Drug-Induced Dyskinesia IMP D RGD:2289781|PMID:16437585 20080211 RGD 2379 Comt catechol-O-methyltransferase gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:737102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:737102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9407957|PMID:15455371|PMID:16077979 2379 Comt catechol-O-methyltransferase gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:25741868|PMID:28492532 2379 Comt catechol-O-methyltransferase gene DOID:9970 obesity susceptibility ISO RGD:737102 D RGD:2289713|PMID:17497175 20080208 RGD DNA:polymorphism:exon 2380 Coq3 coenzyme Q3 methyltransferase gene DOID:630 genetic disease ISO RGD:732708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:0060859 salmonellosis susceptibility ISO RGD:10379 D RGD:10402105|PMID:23166727 20151015 RGD 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:7240710 20190315 OMIM 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 PMID:25741868|PMID:26084283|PMID:28492532|PMID:30369941|PMID:31240163|PMID:32963807 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:224 transient cerebral ischemia severity ISO RGD:10379 D RGD:10402096|PMID:20170652 20151015 RGD 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:630 genetic disease ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:10379 D RGD:10402107|PMID:23255162 20151015 RGD protein:decreased expression:heart (mouse) 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:9002644 Premature Aging ISO RGD:10379 D RGD:10402088|PMID:19478076 20151015 RGD 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:9003690 Carcinoma, Lewis Lung susceptibility ISO RGD:10379 D RGD:10402105|PMID:23166727 20151015 RGD 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2313649|PMID:17130255 20091006 RGD associated with Hypertension;protein:altered expression:heart 2381 Coq7 coenzyme Q7, hydroxylase gene DOID:9007346 Cachexia susceptibility ISO RGD:10379 D RGD:10402105|PMID:23166727 20151015 RGD 2382 Coro1b coronin 1B gene DOID:1059 intellectual disability ISO RGD:736068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2382 Coro1b coronin 1B gene DOID:630 genetic disease ISO RGD:736068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2382 Coro1b coronin 1B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2382 Coro1b coronin 1B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2383 Cort cortistatin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 2383 Cort cortistatin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736209 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2383 Cort cortistatin gene DOID:0111936 immunodeficiency 14 ISO RGD:736209 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 2383 Cort cortistatin gene DOID:630 genetic disease ISO RGD:736209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2384 Cox6a1 cytochrome c oxidase subunit 6A1 gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:7240710 20170301 OMIM 2384 Cox6a1 cytochrome c oxidase subunit 6A1 gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D PMID:25152455|PMID:25741868|PMID:26302975|PMID:28492532 2384 Cox6a1 cytochrome c oxidase subunit 6A1 gene DOID:574 peripheral nervous system disease ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 2384 Cox6a1 cytochrome c oxidase subunit 6A1 gene DOID:630 genetic disease ISO RGD:735899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2384 Cox6a1 cytochrome c oxidase subunit 6A1 gene DOID:870 neuropathy ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 2385 Cox6a2 cytochrome c oxidase subunit 6A2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736247 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 2385 Cox6a2 cytochrome c oxidase subunit 6A2 gene DOID:630 genetic disease ISO RGD:736247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2385 Cox6a2 cytochrome c oxidase subunit 6A2 gene DOID:9005386 Mitochondrial Complex IV Deficiency, Nuclear Type 18 ISO RGD:736247 D RGD:7240710 20201111 OMIM 2385 Cox6a2 cytochrome c oxidase subunit 6A2 gene DOID:9005386 Mitochondrial Complex IV Deficiency, Nuclear Type 18 ISO RGD:736247 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 PMID:25741868|PMID:31155743 2386 Cox8b cytochrome c oxidase, subunit VIIIb gene DOID:9970 obesity IDA D RGD:2301397|PMID:16027000 20081013 RGD 2387 Cp ceruloplasmin gene DOID:0050579 glycogen storage disease XV ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 2387 Cp ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572680|PMID:20801540|PMID:22243965 2387 Cp ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:7240710 20130221 OMIM 2387 Cp ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia PMID:10997552|PMID:11756598|PMID:11909923|PMID:12351628|PMID:1458725|PMID:15082597|PMID:15557511|PMID:15654567|PMID:15885371|PMID:16150804|PMID:16199547|PMID:16629161|PMID:16775387|PMID:16831606|PMID:17013908|PMID:17576681|PMID:17710675|PMID:18414213|PMID:19095659|PMID:2016084|PMID:20301666|PMID:20430895|PMID:20655381|PMID:22281056|PMID:24033266|PMID:25247888|PMID:25741868|PMID:25864092|PMID:26777753|PMID:27753142|PMID:28012953|PMID:28258281|PMID:28431603|PMID:28492532|PMID:29482220|PMID:30901137|PMID:32235485|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:7820540|PMID:8641692|PMID:8789443|PMID:9536098 2387 Cp ceruloplasmin gene DOID:0060041 autism spectrum disorder ISO RGD:736782 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2387 Cp ceruloplasmin gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:736782 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11590544|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31898847 2387 Cp ceruloplasmin gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16629161|PMID:28492532|PMID:32235485 2387 Cp ceruloplasmin gene DOID:10591 pre-eclampsia ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 2387 Cp ceruloplasmin gene DOID:114 heart disease IEP D RGD:2314687|PMID:19188839 20091123 RGD protein:decreased expression:serum 2387 Cp ceruloplasmin gene DOID:12119 hemosiderosis ISO RGD:736782 D RGD:1599626|PMID:7539672 20070209 RGD DNA:splice-site mutation 2387 Cp ceruloplasmin gene DOID:12119 hemosiderosis susceptibility ISO RGD:736782 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:7539672|REF_RGD_ID:1599626 2387 Cp ceruloplasmin gene DOID:12849 autistic disorder ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 2387 Cp ceruloplasmin gene DOID:1307 dementia ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 2387 Cp ceruloplasmin gene DOID:13580 cholestasis ISO RGD:736782 D RGD:14401716|PMID:29523470 20190515 RGD protein:increased expression:serum 2387 Cp ceruloplasmin gene DOID:14330 Parkinson's disease ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159062|PMID:25758665 2387 Cp ceruloplasmin gene DOID:1826 epilepsy ISO RGD:736782 D RGD:1358523|PMID:7914452 19990101 RGD 2387 Cp ceruloplasmin gene DOID:1838 Menkes disease ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 2387 Cp ceruloplasmin gene DOID:1909 melanoma ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 2387 Cp ceruloplasmin gene DOID:2316 brain ischemia IEP D RGD:2314688|PMID:18273071 20091123 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus 2387 Cp ceruloplasmin gene DOID:2351 iron metabolism disease ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16988052 2387 Cp ceruloplasmin gene DOID:2352 hemochromatosis ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17258727 2387 Cp ceruloplasmin gene DOID:3021 acute kidney failure ISO RGD:736782 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2387 Cp ceruloplasmin gene DOID:326 ischemia ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15668637|PMID:18091701 2387 Cp ceruloplasmin gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31064749|PMID:31898847 2387 Cp ceruloplasmin gene DOID:4724 brain edema IDA D RGD:1599627|PMID:16671455 20070209 RGD 2387 Cp ceruloplasmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532 2387 Cp ceruloplasmin gene DOID:5082 liver cirrhosis ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155 2387 Cp ceruloplasmin gene DOID:5113 nutritional deficiency disease ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 2387 Cp ceruloplasmin gene DOID:5419 schizophrenia ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16842975 2387 Cp ceruloplasmin gene DOID:630 genetic disease ISO RGD:736782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485 2387 Cp ceruloplasmin gene DOID:684 hepatocellular carcinoma ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19229483 2387 Cp ceruloplasmin gene DOID:7148 rheumatoid arthritis ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 2387 Cp ceruloplasmin gene DOID:7998 hyperthyroidism IEP D RGD:2314689|PMID:18210749 20091123 RGD protein:increased expression:serum 2387 Cp ceruloplasmin gene DOID:8466 retinal degeneration ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 2387 Cp ceruloplasmin gene DOID:8893 psoriasis ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 2387 Cp ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7849148|PMID:22243965|PMID:23519153 2387 Cp ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:14401715|PMID:18556333 20190515 RGD protein:decreased expression:serum 2387 Cp ceruloplasmin gene DOID:893 Wilson disease treatment IEP D RGD:1554300|PMID:15511628 20200429 RGD 2387 Cp ceruloplasmin gene DOID:9000722 Animal Hepatitis IEP D RGD:2314684|PMID:19526092 20091123 RGD protein:increased expression:lymph, plasma 2387 Cp ceruloplasmin gene DOID:9001542 Albuminuria ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21752484 2387 Cp ceruloplasmin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 2387 Cp ceruloplasmin gene DOID:9002404 Systemic Hemosiderosis due to Aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia PMID:1458725|PMID:16199547|PMID:16629161|PMID:28492532|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:8641692 2387 Cp ceruloplasmin gene DOID:9002457 Experimental Arthritis IEP D RGD:2314686|PMID:19205849 20091123 RGD 2387 Cp ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 2387 Cp ceruloplasmin gene DOID:9002928 Colonic Neoplasms ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 2387 Cp ceruloplasmin gene DOID:9002955 Nerve Degeneration ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18804145 2387 Cp ceruloplasmin gene DOID:9004547 Thyroid Neoplasms IEP D RGD:2314685|PMID:19298605 20091123 RGD mRNA:increased expression:thyroid gland 2387 Cp ceruloplasmin gene DOID:9004866 Ataxia ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 2387 Cp ceruloplasmin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599198|PMID:16947119 20070209 RGD Protein:increased expression:plasma 2387 Cp ceruloplasmin gene DOID:9005725 Iron Overload ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20801540 2387 Cp ceruloplasmin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736782 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2387 Cp ceruloplasmin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2387 Cp ceruloplasmin gene DOID:9008510 Chronic Hepatitis ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 2387 Cp ceruloplasmin gene DOID:9008675 Dyskinesias ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 2387 Cp ceruloplasmin gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 2387 Cp ceruloplasmin gene DOID:9351 diabetes mellitus ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 2387 Cp ceruloplasmin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736782 D RGD:2314681|PMID:19834873 20091123 RGD protein:increased expression:serum 2387 Cp ceruloplasmin gene DOID:936 brain disease ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19005224 2387 Cp ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 2387 Cp ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:2314682|PMID:17603912 20091123 RGD 2388 Cpa1 carboxypeptidase A1 gene DOID:1485 cystic fibrosis ISO RGD:733563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:23955596|PMID:25741868|PMID:28492532 2388 Cpa1 carboxypeptidase A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733563 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2388 Cpa1 carboxypeptidase A1 gene DOID:4989 pancreatitis ISS RGD:733564 D RGD:13592920 20210204 MouseDO OMIM:167800 2388 Cpa1 carboxypeptidase A1 gene DOID:630 genetic disease ISO RGD:733563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2388 Cpa1 carboxypeptidase A1 gene DOID:9001191 Cadmium Poisoning IEP D RGD:1578424|PMID:15865404 20211223 RGD protein:increased activity:small intestine (rat) 2388 Cpa1 carboxypeptidase A1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955596 2388 Cpa1 carboxypeptidase A1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:733563 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:23955596|PMID:24522117|PMID:25741868|PMID:26658419|PMID:27449771|PMID:28166811|PMID:28492532|PMID:28497564|PMID:28861620|PMID:29669919|PMID:30045879|PMID:30862690|PMID:30883245|PMID:9536098 2390 Cpa3 carboxypeptidase A3 gene DOID:0050579 glycogen storage disease XV ISO RGD:733833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 2390 Cpa3 carboxypeptidase A3 gene DOID:0080600 COVID-19 ISO RGD:733833 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2390 Cpa3 carboxypeptidase A3 gene DOID:630 genetic disease ISO RGD:733833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2391 Cpb1 carboxypeptidase B1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 2391 Cpb1 carboxypeptidase B1 gene DOID:630 genetic disease ISO RGD:737246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2393 Cpd carboxypeptidase D gene DOID:0111253 neurofibromatosis 1 ISO RGD:731463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 2393 Cpd carboxypeptidase D gene DOID:630 genetic disease ISO RGD:731463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2394 Cpe carboxypeptidase E gene DOID:11981 morbid obesity ISO RGD:732381 D RGD:9068941 20200609 RGD mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects PMID:12530526|REF_RGD_ID:1626182 2394 Cpe carboxypeptidase E gene DOID:28 endocrine system disease ISO RGD:732381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 2394 Cpe carboxypeptidase E gene DOID:630 genetic disease ISO RGD:732381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2394 Cpe carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:7240710 20210818 OMIM 2394 Cpe carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME PMID:25741868|PMID:28492532|PMID:34383079 2394 Cpe carboxypeptidase E gene DOID:9005172 Lung Neoplasms ISO RGD:732381 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 2394 Cpe carboxypeptidase E gene DOID:9007692 Insulin Resistance ISO RGD:732381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 2394 Cpe carboxypeptidase E gene DOID:9008023 Memory Disorders ISO RGD:732382 D RGD:6483325|PMID:18570185 20120517 RGD 2394 Cpe carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732381 D RGD:1626184|PMID:9662053 20070720 RGD 2394 Cpe carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:732381 D RGD:1626183|PMID:11462236 20070720 RGD 2394 Cpe carboxypeptidase E gene DOID:9970 obesity ISO RGD:732381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15358678|PMID:23434795 2394 Cpe carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:1626181|PMID:7663508 20070720 RGD 2394 Cpe carboxypeptidase E gene DOID:9970 obesity no_association ISO RGD:732381 D RGD:1626184|PMID:9662053 20070720 RGD 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:1059 intellectual disability ISO RGD:70833 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:10763 hypertension IEP D RGD:2303405|PMID:19135993 20090211 RGD protein:decreased expression:liver, mitochondrion 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11407344 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:1600716|PMID:11407344 20070323 RGD CACD, OMIM:265380, DNA:polymorphism:T1405N 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:70833 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:178 vascular disease ISO RGD:70833 D RGD:1600717|PMID:14718356 20070323 RGD venoocclusive disease, DNA:polymorphism:T1405N 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:70833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17310273|PMID:17576681|PMID:20855223|PMID:21120950|PMID:22575620|PMID:24813853|PMID:25741868|PMID:28492532|PMID:32718099|PMID:33489762|PMID:9536098 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:70833 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9000722 Animal Hepatitis IEP D RGD:2303519|PMID:8821709 20090217 RGD protein:increased expression:plasma 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2303515|PMID:17539997 20090217 RGD mRNA:decreased expression:liver 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9001586 Experimental Liver Neoplasms severity IEP D RGD:2303406|PMID:3387993 20090211 RGD mRNA:decreased expression:liver 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2303532|PMID:3973436 20090218 RGD 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9002802 Acidoses IEP D RGD:4144071|PMID:9472964 20100930 RGD protein:increased activity:liver (rat) 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO treatment ISO RGD:10389 D RGD:13628400|PMID:29801986 20180614 RGD 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:7240710 20230505 OMIM 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to PMID:11407344|PMID:14718356|PMID:15465784|PMID:16708072|PMID:20154341|PMID:21767969 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70833 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4144110|PMID:2882780 20101005 RGD protein:increased activity:liver (rat) 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9006462 Coma ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8438805 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70833 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure IEP D RGD:4140432|PMID:8836904 20100826 RGD mRNA:decreased expression:liver (rat) 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure IEP D RGD:70249|PMID:11779202 20100823 RGD mRNA:increased expression:liver (rat) 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8486760|PMID:17310273 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8486760|PMID:17310273 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:1600715|PMID:8486760 20070323 RGD CPS I deficiency, OMIM:237300, DNA:splice-site mutation 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:7240710 20130221 OMIM 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:11388595|PMID:11474210|PMID:11536261|PMID:12655559|PMID:12955727|PMID:15050969|PMID:15164414|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16737834|PMID:17310273|PMID:17357079|PMID:17576681|PMID:18414213|PMID:18666241|PMID:19167850|PMID:19309799|PMID:19793055|PMID:20578160|PMID:20800523|PMID:20855223|PMID:21068339|PMID:21108709|PMID:21120950|PMID:22173106|PMID:22494545|PMID:22575620|PMID:23649895|PMID:24813853|PMID:24880889|PMID:25640679|PMID:25741868|PMID:26059772|PMID:26440671|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28007335|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:29888426|PMID:30285816|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32280145|PMID:32670798|PMID:32718099|PMID:32934962|PMID:33190319|PMID:33309754|PMID:33489762|PMID:33551825|PMID:33611823|PMID:33851512|PMID:33924653|PMID:34298581|PMID:8486760|PMID:9536098|PMID:9686343|PMID:9711878 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:936 brain disease ISO RGD:70833 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9452 fatty liver disease IEP D RGD:4144089|PMID:20347174 20101001 RGD protein:increased expression:liver (rat) 2395 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9970 obesity IEP D RGD:2303517|PMID:15481768 20090217 RGD 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735945 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10390 D RGD:14747028|PMID:31211621 20190911 RGD 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:7240710 20130221 OMIM 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:11350182|PMID:11350183|PMID:11441142|PMID:12111367|PMID:12189492|PMID:12351641|PMID:14517221|PMID:15110323|PMID:16146704|PMID:16169268|PMID:16199547|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:19345525|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:21962599|PMID:23090344|PMID:23430491|PMID:23700290|PMID:24033266|PMID:24847810|PMID:25449608|PMID:25640679|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27066452|PMID:27341449|PMID:28125087|PMID:28468868|PMID:28492532|PMID:29519241|PMID:30101502|PMID:31319225|PMID:32088118|PMID:32561900|PMID:32781271|PMID:33845545|PMID:34131458|PMID:35360862|PMID:9048718|PMID:9536098|PMID:9691089 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:1059 intellectual disability ISO RGD:735945 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:3146 lipid metabolism disorder ISO RGD:735945 D RGD:1600732|PMID:9691089 20070326 RGD CPT IA deficiency, OMIM:255120, D454G 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735945 D RGD:152995523|PMID:29885404 20220628 RGD protein:increased expression:lung (human) 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:630 genetic disease ISO RGD:735945 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16169268|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:735945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9004017 Chronic Hepatitis C ISO RGD:735945 D RGD:5683635|PMID:15685545 20111129 RGD mRNA, protein:decreased expression:liver hepatocytes (human) 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9351 diabetes mellitus ISO RGD:735945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233164 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311344|PMID:19553925 20090708 RGD 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:735945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2396 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9970 obesity IEP D RGD:2311345|PMID:16751799 20090708 RGD mRNA:decreased expression:liver 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:619557 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:619557 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:619557 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:619557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:619557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:1059 intellectual disability ISO RGD:619557 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:630 genetic disease ISO RGD:619557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:8986 narcolepsy ISO RGD:619557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9002189 High Myopia ISO RGD:619557 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9003936 Cardiomegaly ISO RGD:619557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24330405 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:619557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2397 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9007188 Liver Neoplasms ISO RGD:619557 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:31517061|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0080000 muscular disease ISO RGD:736835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18380285 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0080000 muscular disease ISO RGD:736835 D RGD:734814|PMID:10873395 20070326 RGD variable myopathy, R503C 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0080000 muscular disease ISO RGD:736835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:10907 microcephaly ISO RGD:736835 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:12450 pancytopenia ISO RGD:736835 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:1826 epilepsy ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:3146 lipid metabolism disorder ISO RGD:736835 D RGD:1600742|PMID:1528846 20070326 RGD infantile form CPT2 deficiency, OMIM:600649, R631C 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:423 myopathy ISO RGD:736835 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:848 arthritis ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthritis PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9003171 Primary Dysautonomias ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:10090476|PMID:18550408|PMID:20301431|PMID:21709843|PMID:25741868|PMID:25827434|PMID:28492532|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:736835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21816645 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9006638 Sinus Tachycardia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sinus tachycardia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007573 Flatfoot ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: flatfoot PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20661589|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26636822|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9008214 Genu Valgum ISO RGD:736835 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Genu valgum PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9008520 Chronic Pain ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:10090476|PMID:10398215|PMID:10862092|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 2398 Cpt2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease susceptibility ISO RGD:736835 D RGD:7240710 20230517 OMIM 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:0050589 inflammatory bowel disease ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1348835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:12849 autistic disorder ISO RGD:1348835 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1348835 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:630 genetic disease ISO RGD:1348835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348835 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2399 Cr1l complement C3b/C4b receptor 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348835 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1345653 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345653 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:17438526 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1345653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16254461 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1345653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:9000058 Keloid ISO RGD:1345653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345653 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 2400 Crabp1 cellular retinoic acid binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1345653 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2401 Crebbp CREB binding protein gene DOID:0050873 follicular lymphoma ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 2401 Crebbp CREB binding protein gene DOID:0050902 medulloblastoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:0050908 myelodysplastic syndrome ISS RGD:619553 D RGD:13592920 20180518 MouseDO OMIM:614286 2401 Crebbp CREB binding protein gene DOID:0060041 autism spectrum disorder ISS RGD:619553 D RGD:13592920 20190516 MouseDO 2401 Crebbp CREB binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2401 Crebbp CREB binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2401 Crebbp CREB binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 2401 Crebbp CREB binding protein gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:619552 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 2401 Crebbp CREB binding protein gene DOID:10487 Hirschsprung's disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 2401 Crebbp CREB binding protein gene DOID:1059 intellectual disability ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:20684013|PMID:24088041|PMID:25388907|PMID:25741868|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469 2401 Crebbp CREB binding protein gene DOID:10591 pre-eclampsia ISO RGD:619552 D RGD:153350159|PMID:33625689 20220913 RGD mRNA:decreased expression:placenta (human) 2401 Crebbp CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:10059608|PMID:21149712 20150820 RGD 2401 Crebbp CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:10059609|PMID:17760871 20150820 RGD protein:increased phosphorylation:hippocampus: 2401 Crebbp CREB binding protein gene DOID:11054 urinary bladder cancer ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 2401 Crebbp CREB binding protein gene DOID:12118 pulmonary hemosiderosis ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary hemosiderosis PMID:25741868 2401 Crebbp CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619553|RGD:619552 D RGD:13432093|PMID:11264541 20170919 RGD 2401 Crebbp CREB binding protein gene DOID:12858 Huntington's disease disease_progression ISO RGD:619553 D RGD:13432094|PMID:20448484 20170919 RGD 2401 Crebbp CREB binding protein gene DOID:12858 Huntington's disease treatment ISO RGD:619553 D RGD:10059583|PMID:19291221 20150819 RGD protein:altered localization:nucleus 2401 Crebbp CREB binding protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:619552 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 2401 Crebbp CREB binding protein gene DOID:1682 congenital heart disease ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 2401 Crebbp CREB binding protein gene DOID:1686 glaucoma ISO RGD:619552 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 2401 Crebbp CREB binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 2401 Crebbp CREB binding protein gene DOID:1826 epilepsy ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 2401 Crebbp CREB binding protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:619552 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2401 Crebbp CREB binding protein gene DOID:1882 atrial heart septal defect ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392 2401 Crebbp CREB binding protein gene DOID:1909 melanoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:7240710 20130221 OMIM 2401 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:33560380|PMID:7630403|PMID:8967953 2401 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:32170002|PMID:32827181|PMID:33560380|PMID:7630403|PMID:8967953 2401 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17855048|PMID:17942008|PMID:18414213|PMID:18688873|PMID:18792986|PMID:19833603|PMID:19852432|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21302340|PMID:21390126|PMID:21680795|PMID:21796119|PMID:21932317|PMID:21984751|PMID:22307725|PMID:22591219|PMID:22664659|PMID:22832583|PMID:23063576|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:26788536|PMID:26956253|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28970362|PMID:29132461|PMID:29460469|PMID:29551561|PMID:30587507|PMID:30755392|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181|PMID:33560380|PMID:33747050|PMID:7630403|PMID:8967953|PMID:9536098 2401 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619553 D RGD:734820|PMID:10673499 19990101 RGD 2401 Crebbp CREB binding protein gene DOID:2671 transitional cell carcinoma ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 2401 Crebbp CREB binding protein gene DOID:2671 transitional cell carcinoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:3068 glioblastoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:3307 teratoma ISO RGD:619552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 2401 Crebbp CREB binding protein gene DOID:3717 gastric adenocarcinoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619552 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 2401 Crebbp CREB binding protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:619552 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 2401 Crebbp CREB binding protein gene DOID:5409 lung small cell carcinoma ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 2401 Crebbp CREB binding protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:630 genetic disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11023789|PMID:12070251|PMID:12114483|PMID:12566391|PMID:16021471|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:22591219|PMID:23651431|PMID:23934153|PMID:24521098|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:34516402|PMID:9215639|PMID:9536098 2401 Crebbp CREB binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:8541 Sezary's disease ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 2401 Crebbp CREB binding protein gene DOID:8923 skin melanoma ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:619552 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 2401 Crebbp CREB binding protein gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:12070251|PMID:12114483|PMID:16359492|PMID:17052327|PMID:20689175|PMID:25741868|PMID:32170002|PMID:32827181 2401 Crebbp CREB binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378487|PMID:25735316 2401 Crebbp CREB binding protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:9003748 Thumb Deformity ISO RGD:619552 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 2401 Crebbp CREB binding protein gene DOID:9003837 Au-Kline Syndrome ISO RGD:619552 D RGD:8554872 20201215 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 2401 Crebbp CREB binding protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 2401 Crebbp CREB binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619552 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2401 Crebbp CREB binding protein gene DOID:9006534 Nervous System Malformations ISO RGD:619552 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:25388907|PMID:25741868 2401 Crebbp CREB binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:619552 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2401 Crebbp CREB binding protein gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:619553 D RGD:153350155|PMID:34238924 20220914 RGD 2401 Crebbp CREB binding protein gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:153352322|PMID:24338162 20220915 RGD 2401 Crebbp CREB binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:619552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 2401 Crebbp CREB binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:619552 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 2401 Crebbp CREB binding protein gene DOID:9008706 Menke-Hennekam Syndrome ISO RGD:619552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome PMID:25741868|PMID:27311832|PMID:29460469|PMID:30892814 2401 Crebbp CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:7240710 20190315 OMIM 2401 Crebbp CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:11023789|PMID:12114483|PMID:12566391|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:9215639|PMID:9536098 2401 Crebbp CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619552 D RGD:734819|PMID:12461753 19990101 RGD DNA:translocations:intron:IVS2 (human) 2401 Crebbp CREB binding protein gene DOID:9119 acute myeloid leukemia ISS RGD:619553 D RGD:13592920 20180518 MouseDO OMIM:601626 2401 Crebbp CREB binding protein gene DOID:9538 multiple myeloma ISO RGD:619552 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 2401 Crebbp CREB binding protein gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:619552 D RGD:11060149|PMID:25917266 20160419 RGD DNA:mutations:multiple 2402 Crem cAMP responsive element modulator gene DOID:11713 diabetic angiopathy ISO RGD:735941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 2402 Crem cAMP responsive element modulator gene DOID:224 transient cerebral ischemia IEP D RGD:632385|PMID:12437578 19990101 RGD mRNA:increased expression:cerebral cortex (rat) 2402 Crem cAMP responsive element modulator gene DOID:3042 allergic contact dermatitis ISO RGD:735941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 2402 Crem cAMP responsive element modulator gene DOID:5844 myocardial infarction ISO RGD:735941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 2402 Crem cAMP responsive element modulator gene DOID:630 genetic disease ISO RGD:735941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2402 Crem cAMP responsive element modulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2402 Crem cAMP responsive element modulator gene DOID:9000040 Hypertrophy ISO RGD:735941 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12791704 2402 Crem cAMP responsive element modulator gene DOID:9001341 Chloracne ISO RGD:735941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2402 Crem cAMP responsive element modulator gene DOID:9003936 Cardiomegaly ISO RGD:735941 D RGD:1581291|PMID:15569686 19990101 RGD 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:730851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder IEP D RGD:5508785|PMID:19631474 20111021 RGD protein:increased expression:hippocampus, frontal cortex (rat) 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:730851 D RGD:1358530|PMID:14573312 19990101 RGD DNA:snps:intron, 3' utr:g.10661T>C, g.16113T>C (human) 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:3328 temporal lobe epilepsy IEP D RGD:5508845|PMID:9037416 20111025 RGD mRNA:increased expression:dentate gyrus (rat) 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:630 genetic disease ISO RGD:730851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:730851 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730851 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 2403 Crhbp corticotropin releasing hormone binding protein gene DOID:9970 obesity IEP D RGD:5508840|PMID:10600923 20111025 RGD mRNA:decreased expression:anterior pituitary gland (rat) 2405 Crk CRK proto-oncogene, adaptor protein gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:736380 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 2405 Crk CRK proto-oncogene, adaptor protein gene DOID:630 genetic disease ISO RGD:736380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2405 Crk CRK proto-oncogene, adaptor protein gene DOID:90 degenerative disc disease treatment IEP D RGD:11568070|PMID:23055810 20161207 RGD 2405 Crk CRK proto-oncogene, adaptor protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:1612 breast cancer severity ISO RGD:734116 D RGD:8547748|PMID:15448007 20161209 RGD protein:increased expression:breast, cytosol (human) 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:1793 pancreatic cancer ISO RGD:734116 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:2565 macular corneal dystrophy ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:3007 breast ductal carcinoma ISO RGD:734116 D RGD:1579979|PMID:11605729 19990101 RGD 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734116 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:607 paraplegia ISO RGD:734116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:630 genetic disease ISO RGD:734116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:734116 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734116 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 2406 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:9008138 Ductal Carcinoma ISO RGD:734116 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 2407 Crmp1 collapsin response mediator protein 1 gene DOID:630 genetic disease ISO RGD:731741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2407 Crmp1 collapsin response mediator protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 2409 Dpysl4 dihydropyrimidinase-like 4 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:737533 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 2409 Dpysl4 dihydropyrimidinase-like 4 gene DOID:630 genetic disease ISO RGD:737533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2410 Dpysl3 dihydropyrimidinase-like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2410 Dpysl3 dihydropyrimidinase-like 3 gene DOID:630 genetic disease ISO RGD:735265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2410 Dpysl3 dihydropyrimidinase-like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735265 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2410 Dpysl3 dihydropyrimidinase-like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2411 Crp C-reactive protein gene DOID:0014667 disease of metabolism ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 2411 Crp C-reactive protein gene DOID:0050117 disease by infectious agent ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3285537 2411 Crp C-reactive protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736633 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 2411 Crp C-reactive protein gene DOID:0050452 mevalonic aciduria disease_progression ISO RGD:736633 D RGD:9585642|PMID:7780142 20140918 RGD 2411 Crp C-reactive protein gene DOID:0050589 inflammatory bowel disease ISO RGD:736633 D RGD:6482301|PMID:22483567 20120424 RGD 2411 Crp C-reactive protein gene DOID:0050848 obstructive sleep apnea ISO RGD:736633 D RGD:5131290|PMID:21493247 20110426 RGD 2411 Crp C-reactive protein gene DOID:0050855 renal fibrosis ISO RGD:10398 D RGD:9068941 20220825 RGD associated with ureteral obstruction PMID:21383672|REF_RGD_ID:6907431 2411 Crp C-reactive protein gene DOID:0050855 renal fibrosis onset ISO RGD:10398 D RGD:6907431|PMID:21383672 20121106 RGD associated with ureteral obstruction 2411 Crp C-reactive protein gene DOID:0050855 renal fibrosis onset ISO RGD:736633 D RGD:6907431|PMID:21383672 20121106 RGD associated with ureteral obstruction 2411 Crp C-reactive protein gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:736633 D RGD:9491785|PMID:15206651 20140912 RGD protein:increased expression:blood: 2411 Crp C-reactive protein gene DOID:0060001 withdrawal disorder ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12858318 2411 Crp C-reactive protein gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:736633 D RGD:9491838|PMID:18811807 20140916 RGD 2411 Crp C-reactive protein gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:736633 D RGD:9491839|PMID:19645035 20140916 RGD associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: 2411 Crp C-reactive protein gene DOID:0060322 mastoiditis disease_progression ISO RGD:736633 D RGD:9491592|PMID:22578647 20140910 RGD 2411 Crp C-reactive protein gene DOID:0060903 thrombosis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16931792 2411 Crp C-reactive protein gene DOID:0070355 overactive bladder syndrome ISO RGD:736633 D RGD:6907432|PMID:21284020 20121106 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:0080162 lupus nephritis ISO RGD:736633 D RGD:6907400|PMID:18852001 20121102 RGD 2411 Crp C-reactive protein gene DOID:0080162 lupus nephritis ISO RGD:736633 D RGD:6909145|PMID:15692982 20121109 RGD 2411 Crp C-reactive protein gene DOID:0080162 lupus nephritis no_association ISO RGD:736633 D RGD:6909146|PMID:20039408 20121109 RGD 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 ISO RGD:736633 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32534021 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:736633 D RGD:30296681|PMID:32345579 20200616 RGD associated with diabetes mellitus 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:27095965|PMID:32125452 20200520 RGD protein:increased expression:serum (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:27226695|PMID:32227274 20200522 RGD protein:increased expression:serum (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30296673|PMID:32198776 20200616 RGD 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30309200|PMID:32427582 20200618 RGD protein:increased expression:serum (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30309957|PMID:32456948 20200624 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30310230|PMID:32181911 20200624 RGD protein:increased expression:blood (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30310235|PMID:32417135 20200624 RGD protein:increased expression:plasma (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:30310238|PMID:32434211 20200624 RGD protein:increased expression:serum (human) 2411 Crp C-reactive protein gene DOID:0080600 COVID-19 severity ISO RGD:736633 D RGD:32698682|PMID:32406594 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) 2411 Crp C-reactive protein gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2411 Crp C-reactive protein gene DOID:1003 pelvic inflammatory disease ISO RGD:736633 D RGD:38508897|PMID:21679133 20200819 RGD protein:increased expression:plasma (human) 2411 Crp C-reactive protein gene DOID:104 bacterial infectious disease ISO RGD:736633 D RGD:9495911|PMID:23937512 20140917 RGD 2411 Crp C-reactive protein gene DOID:1063 interstitial nephritis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17014549 2411 Crp C-reactive protein gene DOID:1063 interstitial nephritis onset ISO RGD:10398 D RGD:6907431|PMID:21383672 20121106 RGD associated with ureteral obstruction 2411 Crp C-reactive protein gene DOID:1063 interstitial nephritis onset ISO RGD:736633 D RGD:6907431|PMID:21383672 20121106 RGD associated with ureteral obstruction 2411 Crp C-reactive protein gene DOID:10652 Alzheimer's disease ISO RGD:10398 D RGD:6904208|PMID:22202667 20121016 RGD 2411 Crp C-reactive protein gene DOID:1073 renal hypertension IEP D RGD:6907405|PMID:22188107 20121102 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:1074 kidney failure severity ISO RGD:736633 D RGD:6907441|PMID:20710104 20121106 RGD associated with Anemia, Sickle Cell; protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:10754 otitis media treatment ISO RGD:736633 D RGD:9491381|PMID:7724300 20140909 RGD 2411 Crp C-reactive protein gene DOID:10763 hypertension IEP D RGD:5131461|PMID:19905982 20110428 RGD protein:increased expression:plasma 2411 Crp C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14620923|PMID:16680063|PMID:19770776|PMID:20667508 2411 Crp C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9491754|PMID:6720266 20140910 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:10763 hypertension ISO RGD:736633 D RGD:9586008|PMID:19056836 20140924 RGD 2411 Crp C-reactive protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736633 D RGD:9491775|PMID:17400294 20140911 RGD 2411 Crp C-reactive protein gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:736633 D RGD:9491756|PMID:19692124 20140910 RGD DNA:SNPs: :rs2808635,rs876538(human) 2411 Crp C-reactive protein gene DOID:114 heart disease ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17388968 2411 Crp C-reactive protein gene DOID:114 heart disease ISO RGD:736633 D RGD:1580259|PMID:11857055 19990101 RGD 2411 Crp C-reactive protein gene DOID:11400 pyelonephritis IEP D RGD:6482315|PMID:21797109 20121016 RGD 2411 Crp C-reactive protein gene DOID:11561 hypertensive retinopathy ISO RGD:736633 D RGD:9491786|PMID:21091359 20140912 RGD protein:increased expression:blood: 2411 Crp C-reactive protein gene DOID:1168 familial hyperlipidemia IEP D RGD:8695929|PMID:24308182 20140924 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:11758 iron deficiency anemia IEP D RGD:5131463|PMID:19730160 20110428 RGD protein:increased expression:plasma 2411 Crp C-reactive protein gene DOID:12365 malaria ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8730300 2411 Crp C-reactive protein gene DOID:12466 secondary hyperparathyroidism ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 2411 Crp C-reactive protein gene DOID:12683 vestibular neuronitis disease_progression ISO RGD:736633 D RGD:9491594|PMID:14636287 20140910 RGD 2411 Crp C-reactive protein gene DOID:1287 cardiovascular system disease ISO RGD:736633 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:12876635|PMID:16332659|PMID:29114965 2411 Crp C-reactive protein gene DOID:1287 cardiovascular system disease ISO RGD:736633 D RGD:1580260|PMID:15735209 19990101 RGD 2411 Crp C-reactive protein gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:736633 D RGD:9491755|PMID:20412290 20140910 RGD 2411 Crp C-reactive protein gene DOID:12894 Sjogren's syndrome ISO RGD:736633 D RGD:9491774|PMID:2353152 20140911 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:12894 Sjogren's syndrome ISO RGD:736633 D RGD:9491835|PMID:16013223 20140916 RGD 2411 Crp C-reactive protein gene DOID:13241 Behcet's disease ISO RGD:736633 D RGD:9491757|PMID:12180795 20140910 RGD protein:increased expression:plasma,erythrocyte: 2411 Crp C-reactive protein gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736633 D RGD:5131292|PMID:21426633 20110426 RGD 2411 Crp C-reactive protein gene DOID:13375 temporal arteritis ISO RGD:736633 D RGD:9491785|PMID:15206651 20140912 RGD protein:increased expression:blood: 2411 Crp C-reactive protein gene DOID:13378 Kawasaki disease susceptibility ISO RGD:736633 D RGD:9495921|PMID:18710885 20140917 RGD DNA:SNP: :1444 C-->T(human) 2411 Crp C-reactive protein gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:736633 D RGD:5131289|PMID:21086905 20110426 RGD 2411 Crp C-reactive protein gene DOID:13544 low tension glaucoma ISO RGD:736633 D RGD:9491770|PMID:16148587 20140911 RGD protein:increased expression:plasma: 2411 Crp C-reactive protein gene DOID:13544 low tension glaucoma no_association ISO RGD:736633 D RGD:9491771|PMID:22966842 20140911 RGD 2411 Crp C-reactive protein gene DOID:13564 aspergillosis treatment ISO RGD:736633 D RGD:9495929|PMID:20879853 20140917 RGD 2411 Crp C-reactive protein gene DOID:13801 pharyngoconjunctival fever ISO RGD:736633 D RGD:9491593|PMID:17876605 20140910 RGD 2411 Crp C-reactive protein gene DOID:13949 interstitial cystitis ISO RGD:736633 D RGD:6907432|PMID:21284020 20121106 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:736633 D RGD:6482305|PMID:22441510 20120424 RGD 2411 Crp C-reactive protein gene DOID:14330 Parkinson's disease ISO RGD:736633 D RGD:6482307|PMID:22426659 20120424 RGD 2411 Crp C-reactive protein gene DOID:1474 aggressive periodontitis ISO RGD:736633 D RGD:9491835|PMID:16013223 20140916 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:1540 parathyroid carcinoma ISO RGD:736633 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2411 Crp C-reactive protein gene DOID:1555 urticaria ISO RGD:736633 D RGD:6482310|PMID:22348297 20120424 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:1596 depressive disorder ISO RGD:736633 D RGD:6904211|PMID:22972567 20121016 RGD associated with kidney failure, chronic; protein:increased expression:plasma 2411 Crp C-reactive protein gene DOID:1612 breast cancer ISO RGD:736633 D RGD:9491787|PMID:21139810 20140912 RGD protein:increased expression:nipple aspirate fluid 2411 Crp C-reactive protein gene DOID:1727 retinal vein occlusion ISO RGD:736633 D RGD:9491754|PMID:6720266 20140910 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:1824 status epilepticus IEP D RGD:9586015|PMID:23398413 20140924 RGD protein:increased expression:plasma: 2411 Crp C-reactive protein gene DOID:1936 atherosclerosis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16931792 2411 Crp C-reactive protein gene DOID:1936 atherosclerosis disease_progression ISO RGD:736633 D RGD:9491769|PMID:18535598 20140911 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:2030 anxiety disorder ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 2411 Crp C-reactive protein gene DOID:2030 anxiety disorder ISO RGD:736633 D RGD:9491832|PMID:18603621 20140916 RGD associated with Coronary Disease; 2411 Crp C-reactive protein gene DOID:219 colon cancer IEP D RGD:6903278|PMID:23008118 20120928 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:2841 asthma ISO RGD:736633 D RGD:5131288|PMID:21140796 20110426 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:2942 bronchiolitis severity ISO RGD:736633 D RGD:5131282|PMID:21284715 20110426 RGD 2411 Crp C-reactive protein gene DOID:2957 pulmonary tuberculosis ISO RGD:736633 D RGD:5131287|PMID:21197091 20110426 RGD associated with HIV Infections 2411 Crp C-reactive protein gene DOID:2957 pulmonary tuberculosis severity ISO RGD:736633 D RGD:5131284|PMID:21219690 20110426 RGD 2411 Crp C-reactive protein gene DOID:2988 antiphospholipid syndrome ISO RGD:736633 D RGD:6907402|PMID:17014014 20121102 RGD 2411 Crp C-reactive protein gene DOID:3021 acute kidney failure IEP D RGD:6903282|PMID:22551254 20120928 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:3021 acute kidney failure ISO RGD:736633 D RGD:6906888|PMID:22694718 20121018 RGD associated with Myocardial Infarction; 2411 Crp C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736633 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 2411 Crp C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736633 D RGD:5131278|PMID:21506665 20110426 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:736633 D RGD:5131279|PMID:21468168 20110426 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:3393 coronary artery disease ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24868163 2411 Crp C-reactive protein gene DOID:3393 coronary artery disease ISO RGD:736633 D RGD:2313344|PMID:19615354 20090918 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:3459 breast carcinoma severity ISO RGD:736633 D RGD:9585643|PMID:14648971 20140918 RGD 2411 Crp C-reactive protein gene DOID:3525 middle cerebral artery infarction ISO RGD:736633 D RGD:9585995|PMID:15545914 20140924 RGD 2411 Crp C-reactive protein gene DOID:403 mouth disease IEP D RGD:6482317|PMID:21625744 20120424 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:4448 macular degeneration ISO RGD:736633 D RGD:9491760|PMID:16225921 20140910 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:4448 macular degeneration susceptibility ISO RGD:736633 D RGD:9491758|PMID:20346514 20140910 RGD 2411 Crp C-reactive protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736633 D RGD:6904212|PMID:22958305 20121016 RGD 2411 Crp C-reactive protein gene DOID:5082 liver cirrhosis ISO RGD:736633 D RGD:9491781|PMID:21806828 20140912 RGD associated with Hepatitis C, Chronic;protein:decreased expression:serum 2411 Crp C-reactive protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:736633 D RGD:6482303|PMID:22448211 20120424 RGD 2411 Crp C-reactive protein gene DOID:552 pneumonia disease_progression ISO RGD:736633 D RGD:5131291|PMID:21439658 20110426 RGD 2411 Crp C-reactive protein gene DOID:552 pneumonia severity ISO RGD:736633 D RGD:5131283|PMID:21258955 20110426 RGD 2411 Crp C-reactive protein gene DOID:5844 myocardial infarction IEP D RGD:5131456|PMID:21046814 20110428 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:736633 D RGD:6482304|PMID:22446866 20120424 RGD 2411 Crp C-reactive protein gene DOID:5844 myocardial infarction ISO RGD:736633 D RGD:9491780|PMID:9761079 20140912 RGD associated with Angina, Unstable; 2411 Crp C-reactive protein gene DOID:6000 congestive heart failure ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 2411 Crp C-reactive protein gene DOID:6039 uveal melanoma disease_progression ISO RGD:736633 D RGD:9491834|PMID:23057648 20140916 RGD 2411 Crp C-reactive protein gene DOID:6088 acute stress disorder ISO RGD:736633 D RGD:9585647|PMID:19628221 20140918 RGD 2411 Crp C-reactive protein gene DOID:630 genetic disease ISO RGD:736633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2411 Crp C-reactive protein gene DOID:6432 pulmonary hypertension ISO RGD:736633 D RGD:6482312|PMID:22333502 20120424 RGD associated with Pulmonary Disease, Chronic Obstructive 2411 Crp C-reactive protein gene DOID:6713 cerebrovascular disease ISO RGD:736633 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 2411 Crp C-reactive protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736633 D RGD:6906884|PMID:22885951 20121018 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:684 hepatocellular carcinoma ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 2411 Crp C-reactive protein gene DOID:7147 ankylosing spondylitis ISO RGD:736633 D RGD:9491788|PMID:6605119 20140912 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:7147 ankylosing spondylitis disease_progression ISO RGD:736633 D RGD:6482308|PMID:22422197 20120424 RGD 2411 Crp C-reactive protein gene DOID:7148 rheumatoid arthritis IDA D RGD:6904209|PMID:22173958 20121016 RGD 2411 Crp C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1568518 2411 Crp C-reactive protein gene DOID:7148 rheumatoid arthritis ISO RGD:736633 D RGD:6904209|PMID:22173958 20121016 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:736633 D RGD:13782270|PMID:30004237 20180831 RGD protein:increased expression:plasma 2411 Crp C-reactive protein gene DOID:783 end stage renal disease ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 2411 Crp C-reactive protein gene DOID:783 end stage renal disease disease_progression ISO RGD:736633 D RGD:6906886|PMID:22865783 20121018 RGD protein:increased expression:plasma 2411 Crp C-reactive protein gene DOID:820 myocarditis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20361910 2411 Crp C-reactive protein gene DOID:824 periodontitis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20011938 2411 Crp C-reactive protein gene DOID:853 polymyalgia rheumatica treatment ISO RGD:736633 D RGD:9495925|PMID:2859021 20140917 RGD 2411 Crp C-reactive protein gene DOID:8778 Crohn's disease ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11339241 2411 Crp C-reactive protein gene DOID:8778 Crohn's disease severity ISO RGD:736633 D RGD:6482309|PMID:22421709 20120424 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:8805 intermediate coronary syndrome disease_progression ISO RGD:736633 D RGD:9491780|PMID:9761079 20140912 RGD 2411 Crp C-reactive protein gene DOID:8893 psoriasis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 2411 Crp C-reactive protein gene DOID:8893 psoriasis ISO RGD:736633 D RGD:6482313|PMID:22503884 20120424 RGD 2411 Crp C-reactive protein gene DOID:8893 psoriasis treatment ISO RGD:736633 D RGD:9495927|PMID:22754198 20140917 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:8947 diabetic retinopathy ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 2411 Crp C-reactive protein gene DOID:8947 diabetic retinopathy ISO RGD:736633 D RGD:8547537|PMID:20012460 20140911 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:9000039 Spinal Cord Injuries IDA D RGD:6903321|PMID:22404382 20121001 RGD 2411 Crp C-reactive protein gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736633 D RGD:9495908|PMID:11739301 20140917 RGD protein:increased expression:blood: 2411 Crp C-reactive protein gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:736633 D RGD:9580226|PMID:24633920 20140918 RGD associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human) 2411 Crp C-reactive protein gene DOID:9000998 Brain Injuries disease_progression ISO RGD:736633 D RGD:9585646|PMID:24456846 20140918 RGD 2411 Crp C-reactive protein gene DOID:9001488 Human Influenza ISO RGD:736633 D RGD:5131277|PMID:21509252 20110426 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:9001542 Albuminuria ISO RGD:736633 D RGD:6909147|PMID:20016210 20121109 RGD associated with hypertension 2411 Crp C-reactive protein gene DOID:9001542 Albuminuria severity ISO RGD:736633 D RGD:6907441|PMID:20710104 20121106 RGD associated with Anemia, Sickle Cell; protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:9491781|PMID:21806828 20140912 RGD protein:decreased expression:serum: 2411 Crp C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:15966572|PMID:23305094 2411 Crp C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:6907401|PMID:18973750 20121102 RGD 2411 Crp C-reactive protein gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736633 D RGD:9491837|PMID:21794939 20140916 RGD protein:increased expression: : 2411 Crp C-reactive protein gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:736633 D RGD:5131293|PMID:21281676 20110426 RGD 2411 Crp C-reactive protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736633 D RGD:6906967|PMID:22590912 20121023 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine 2411 Crp C-reactive protein gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736633 D RGD:6906965|PMID:22885250 20121023 RGD associated with Diabetes Mellitus, Type 1 2411 Crp C-reactive protein gene DOID:9002274 Renal Colic ISO RGD:736633 D RGD:6909142|PMID:20206981 20121109 RGD associated with Urolithiasis; 2411 Crp C-reactive protein gene DOID:9002457 Experimental Arthritis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 2411 Crp C-reactive protein gene DOID:9002669 Hypoxia ISO RGD:736633 D RGD:5131285|PMID:21199168 20110426 RGD associated with Influenza 2411 Crp C-reactive protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:736633 D RGD:9585994|PMID:20220110 20140924 RGD 2411 Crp C-reactive protein gene DOID:9004017 Chronic Hepatitis C ISO RGD:736633 D RGD:6482311|PMID:22333691 20120424 RGD 2411 Crp C-reactive protein gene DOID:9004484 Sepsis IEP D RGD:6482315|PMID:21797109 20120424 RGD 2411 Crp C-reactive protein gene DOID:9004484 Sepsis ISO RGD:736633 D RGD:9491784|PMID:19060982 20140912 RGD protein:increased expression:blood: 2411 Crp C-reactive protein gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736633 D RGD:6907433|PMID:21076530 20121106 RGD associated with Lupus Nephritis; protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:9005036 Bacteremia ISO RGD:736633 D RGD:9491402|PMID:18443549 20140910 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:9005171 Acute Uveitis IEP D RGD:9491782|PMID:24697218 20140912 RGD protein:increased expression:plasma: 2411 Crp C-reactive protein gene DOID:9005171 Acute Uveitis ISO RGD:736633 D RGD:9491833|PMID:11914210 20140916 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:9005172 Lung Neoplasms ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17114654 2411 Crp C-reactive protein gene DOID:9005372 Inflammation IEP D RGD:5131460|PMID:19917410 20110428 RGD 2411 Crp C-reactive protein gene DOID:9005372 Inflammation ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14970111|PMID:16125490|PMID:21437516 2411 Crp C-reactive protein gene DOID:9005372 Inflammation ISO RGD:736633 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inflammation 2411 Crp C-reactive protein gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:6482316|PMID:21736771 20120424 RGD 2411 Crp C-reactive protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10398 D RGD:6907422|PMID:21736794 20121102 RGD 2411 Crp C-reactive protein gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:736633 D RGD:6909166|PMID:23102387 20121113 RGD associated with coronary disease; 2411 Crp C-reactive protein gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis disease_progression ISO RGD:736633 D RGD:6907435|PMID:20813859 20121106 RGD 2411 Crp C-reactive protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11893366 2411 Crp C-reactive protein gene DOID:9006646 Metabolic Syndrome ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 2411 Crp C-reactive protein gene DOID:9006646 Metabolic Syndrome ISO RGD:736633 D RGD:6482318|PMID:21357282 20120424 RGD 2411 Crp C-reactive protein gene DOID:9006865 Fever of Unknown Origin ISO RGD:736633 D RGD:9491382|PMID:7506886 20140909 RGD 2411 Crp C-reactive protein gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:9491781|PMID:21806828 20140912 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:9007102 Myocardial Ischemia IEP D RGD:5128547|PMID:21122204 20110428 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11840375 2411 Crp C-reactive protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736633 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2411 Crp C-reactive protein gene DOID:9007417 Pseudomonas Infections IEP D RGD:5131464|PMID:19561148 20110428 RGD protein:increased expression:blood 2411 Crp C-reactive protein gene DOID:9007417 Pseudomonas Infections ISO RGD:736633 D RGD:6906966|PMID:22864910 20121023 RGD associated with Diabetes Mellitus, Type 1; 2411 Crp C-reactive protein gene DOID:9007730 Burns IEP D RGD:5131457|PMID:20664819 20110428 RGD 2411 Crp C-reactive protein gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:5129536|PMID:17981193 20140910 RGD protein:increased expression:intestine: 2411 Crp C-reactive protein gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:736633 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 2411 Crp C-reactive protein gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5128547|PMID:21122204 20110428 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:9007964 Arsenic Poisoning ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22521605 2411 Crp C-reactive protein gene DOID:9008212 Diabetic Foot disease_progression ISO RGD:736633 D RGD:6906887|PMID:22712631 20121018 RGD protein:increased expression:blood: 2411 Crp C-reactive protein gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:736633 D RGD:9491775|PMID:17400294 20140911 RGD 2411 Crp C-reactive protein gene DOID:9008652 Postoperative Atrial Fibrillation no_association ISO RGD:736633 D RGD:9495909|PMID:17383336 20140917 RGD 2411 Crp C-reactive protein gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 2411 Crp C-reactive protein gene DOID:9065 leishmaniasis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17218153 2411 Crp C-reactive protein gene DOID:9074 systemic lupus erythematosus ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17718048 2411 Crp C-reactive protein gene DOID:9074 systemic lupus erythematosus ISO RGD:736633 D RGD:6909144|PMID:8261665 20121109 RGD 2411 Crp C-reactive protein gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:736633 D RGD:6907402|PMID:17014014 20121102 RGD 2411 Crp C-reactive protein gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736633 D RGD:6909146|PMID:20039408 20121109 RGD 2411 Crp C-reactive protein gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:736633 D RGD:9068941 20200609 RGD PMID:8261665|REF_RGD_ID:6909144 2411 Crp C-reactive protein gene DOID:9146 visceral leishmaniasis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10467834 2411 Crp C-reactive protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736633 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2411 Crp C-reactive protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736633 D RGD:9491772|PMID:16764962 20140911 RGD 2411 Crp C-reactive protein gene DOID:9463 otitis externa disease_progression ISO RGD:736633 D RGD:9491591|PMID:22032882 20140910 RGD 2411 Crp C-reactive protein gene DOID:9470 bacterial meningitis ISO RGD:736633 D RGD:9491388|PMID:6122844 20140909 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:9471 meningitis ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14513990 2411 Crp C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 2411 Crp C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:6906966|PMID:22864910 20121023 RGD 2411 Crp C-reactive protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736633 D RGD:8547537|PMID:20012460 20140911 RGD protein:increased expression:serum: 2411 Crp C-reactive protein gene DOID:9970 obesity ISO RGD:736633 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 2411 Crp C-reactive protein gene DOID:9970 obesity ISO RGD:736633 D RGD:5490970|PMID:20660932 20110921 RGD protein:increased expression:serum 2411 Crp C-reactive protein gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISS RGD:737597 D RGD:13592920 20180518 MouseDO OMIM:183900 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:630 genetic disease ISO RGD:1346855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346855 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:1346855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:737597 D RGD:734826|PMID:9988279 19990101 RGD 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 2412 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 2413 Cryaa crystallin, alpha A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 2413 Cryaa crystallin, alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:7240710 20130731 OMIM 2413 Cryaa crystallin, alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11006246|PMID:11123904|PMID:12601044|PMID:14512969|PMID:16564818|PMID:16735993|PMID:16862070|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18056999|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19182255|PMID:19503744|PMID:20079887|PMID:21042563|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23255486|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26542570|PMID:26694549|PMID:27307692|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 2413 Cryaa crystallin, alpha A gene DOID:1242 globe disease ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Globe disease PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 2413 Cryaa crystallin, alpha A gene DOID:13141 uveitis ISO RGD:735272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 2413 Cryaa crystallin, alpha A gene DOID:417 autoimmune disease ISO RGD:735272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 2413 Cryaa crystallin, alpha A gene DOID:630 genetic disease ISO RGD:735272 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2413 Cryaa crystallin, alpha A gene DOID:83 cataract IDA D RGD:1600984|PMID:15042443 20070402 RGD Protein:increased modification 2413 Cryaa crystallin, alpha A gene DOID:83 cataract IEP D RGD:13503352|PMID:19120020 20180115 RGD protein:decreased expression:lens: 2413 Cryaa crystallin, alpha A gene DOID:83 cataract IEP D RGD:1600993|PMID:1424724 20070402 RGD Protein:altered localization:plasma membrane 2413 Cryaa crystallin, alpha A gene DOID:83 cataract ISO RGD:735272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9467006 2413 Cryaa crystallin, alpha A gene DOID:83 cataract ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17724170|PMID:17937925|PMID:18587492|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872 2413 Cryaa crystallin, alpha A gene DOID:891 progressive myoclonus epilepsy ISO RGD:735272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 2413 Cryaa crystallin, alpha A gene DOID:9002535 Cataract, Autosomal Recessive Congenital 1 ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11123904|PMID:16564818|PMID:16735993|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19503744|PMID:20079887|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 2413 Cryaa crystallin, alpha A gene DOID:9008296 Eye Abnormalities ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 2413 Cryaa crystallin, alpha A gene DOID:9263 homocystinuria ISO RGD:735272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 2413 Cryaa crystallin, alpha A gene DOID:9282 ocular hypertension IEP D RGD:2303613|PMID:18626730 20090220 RGD protein:decreased expression:retina 2413 Cryaa crystallin, alpha A gene DOID:9562 primary ciliary dyskinesia ISO RGD:735272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2413 Cryaa crystallin, alpha A gene DOID:9870 galactosemia IEP D RGD:1600994|PMID:1707863 20070402 RGD mRNA:decreased expression:lens 2414 Cryab crystallin, alpha B gene DOID:0050537 posterior polar cataract ISO RGD:737518 D RGD:8554872 20170926 ClinVar ClinVar Annotator: match by term: Posterior polar cataract 2414 Cryab crystallin, alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:31215171 2414 Cryab crystallin, alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:9536098 2414 Cryab crystallin, alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28640093|PMID:29544605|PMID:31215171|PMID:32110827|PMID:33834702|PMID:33906374|PMID:34426522|PMID:35531184|PMID:9536098 2414 Cryab crystallin, alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:7240710 20130425 OMIM 2414 Cryab crystallin, alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 2 PMID:11013455|PMID:12601044|PMID:12812987|PMID:14681890|PMID:16483541|PMID:19282282|PMID:20301672|PMID:21130652|PMID:21337604|PMID:21920752|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26542570|PMID:26961874|PMID:27226619|PMID:27260392|PMID:28492532|PMID:28798025|PMID:31127727|PMID:32013205|PMID:32420686|PMID:32430163|PMID:570292|PMID:8000975|PMID:9731540 2414 Cryab crystallin, alpha B gene DOID:0080307 myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483 2414 Cryab crystallin, alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:7240710 20180620 OMIM 2414 Cryab crystallin, alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:19282282|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483|PMID:28798025 2414 Cryab crystallin, alpha B gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:737518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:7240710 20141015 OMIM 2414 Cryab crystallin, alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types PMID:11013455|PMID:11577372|PMID:1560021|PMID:16483541|PMID:16505043|PMID:16793013|PMID:16877416|PMID:17116488|PMID:19282282|PMID:19461931|PMID:20141356|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:28492532|PMID:28690483|PMID:28798025 2414 Cryab crystallin, alpha B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:7240710 20140903 OMIM 2414 Cryab crystallin, alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:11013455|PMID:14681890|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:19282282|PMID:19461931|PMID:19597569|PMID:20141356|PMID:20171888|PMID:20301672|PMID:21087083|PMID:21130652|PMID:21337604|PMID:21520333|PMID:21866213|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23197161|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25214167|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26627873|PMID:26694549|PMID:26961874|PMID:27226619|PMID:27260392|PMID:27532257|PMID:28492532|PMID:28493373|PMID:28640093|PMID:28690483|PMID:28798025|PMID:29544605|PMID:30847666|PMID:31127727|PMID:31215171|PMID:31678106|PMID:31983221|PMID:32013205|PMID:32110827|PMID:32430163|PMID:32573669|PMID:32880476|PMID:33834702|PMID:33906374|PMID:34426522|PMID:35531184|PMID:9536098 2414 Cryab crystallin, alpha B gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:21920752|PMID:23194663|PMID:26627873|PMID:28492532|PMID:28493373 2414 Cryab crystallin, alpha B gene DOID:1059 intellectual disability ISO RGD:737518 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2414 Cryab crystallin, alpha B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:12704 ataxia telangiectasia ISO RGD:737518 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:1289 neurodegenerative disease ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 2414 Cryab crystallin, alpha B gene DOID:12930 dilated cardiomyopathy ISO RGD:737518 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19597569|PMID:26402864|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:1749 squamous cell carcinoma ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2414 Cryab crystallin, alpha B gene DOID:4448 macular degeneration treatment IEP D RGD:13503350|PMID:25483086 20180115 RGD 2414 Cryab crystallin, alpha B gene DOID:4450 renal cell carcinoma ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 2414 Cryab crystallin, alpha B gene DOID:6000 congestive heart failure ISO RGD:737518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:630 genetic disease ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:83 cataract IEP D RGD:13503352|PMID:19120020 20180115 RGD protein:decreased expression:lens: 2414 Cryab crystallin, alpha B gene DOID:83 cataract ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11577372 2414 Cryab crystallin, alpha B gene DOID:83 cataract ISO RGD:737518 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:28492532 2414 Cryab crystallin, alpha B gene DOID:9000117 Esophageal Neoplasms ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 2414 Cryab crystallin, alpha B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2414 Cryab crystallin, alpha B gene DOID:9002304 Prostatic Neoplasms ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2414 Cryab crystallin, alpha B gene DOID:9002928 Colonic Neoplasms ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2414 Cryab crystallin, alpha B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737518 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2414 Cryab crystallin, alpha B gene DOID:9005873 Tongue Neoplasms ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 2414 Cryab crystallin, alpha B gene DOID:9007102 Myocardial Ischemia IDA D RGD:704398|PMID:11945023 19990101 RGD 2414 Cryab crystallin, alpha B gene DOID:9007364 Mouth Neoplasms ISO RGD:737518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2414 Cryab crystallin, alpha B gene DOID:9008217 Hemorrhage IEP D RGD:2303639|PMID:17293487 20090220 RGD associated with Wounds and Injuries;protein:decreased phosphorylation:heart 2414 Cryab crystallin, alpha B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 2415 Cryba1 crystallin, beta A1 gene DOID:0110014 age related macular degeneration 1 ISS RGD:736651 D RGD:13592920 20180518 MouseDO OMIM:603075 2415 Cryba1 crystallin, beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:7240710 20130221 OMIM 2415 Cryba1 crystallin, beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 10 multiple types PMID:11006214|PMID:14598164|PMID:14693780|PMID:16199547|PMID:17576681|PMID:20142846|PMID:21139983|PMID:21850182|PMID:21866213|PMID:22919269|PMID:24281366|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9536098|PMID:9788845 2415 Cryba1 crystallin, beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736651 D RGD:734831|PMID:10585769 20150821 RGD DNA:mutation:exon:170T>A(mouse) 2415 Cryba1 crystallin, beta A1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:736650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 2415 Cryba1 crystallin, beta A1 gene DOID:10629 microphthalmia IMP D RGD:126925760|PMID:15721615 20210519 RGD 2415 Cryba1 crystallin, beta A1 gene DOID:5327 retinal detachment IAGP D RGD:38676460|PMID:26303524 20200918 RGD 2415 Cryba1 crystallin, beta A1 gene DOID:630 genetic disease ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11006214|PMID:14693780|PMID:21139983|PMID:21866213|PMID:22919269|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9788845 2415 Cryba1 crystallin, beta A1 gene DOID:83 cataract IMP D RGD:126925760|PMID:15721615 20210519 RGD 2415 Cryba1 crystallin, beta A1 gene DOID:83 cataract IMP D RGD:2303652|PMID:17931883 20210519 RGD 2415 Cryba1 crystallin, beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:10059634|PMID:22919269 20150821 RGD DNA:splice-site mutation:intron:c.215+1G>A (human) 2415 Cryba1 crystallin, beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:10059641|PMID:21850182 20150821 RGD DNA:splice-site mutation:intron:IVS3+1G>T(human) 2415 Cryba1 crystallin, beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:10059642|PMID:20142846 20150821 RGD DNA:splice-site mutation:intron:IVS3+1G>A(human) 2415 Cryba1 crystallin, beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:10059653|PMID:24520233 20150824 RGD associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens: 2415 Cryba1 crystallin, beta A1 gene DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium IMP D RGD:126925759|PMID:21266465 20210519 RGD mRNA:increased expression:retinal pigmented epithelium (rat) 2415 Cryba1 crystallin, beta A1 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:736650 D RGD:10059633|PMID:21686330 20150821 RGD DNA:deletion:exon:c.279_281delGAG, p.G91del(human) 2415 Cryba1 crystallin, beta A1 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:736650 D RGD:10059638|PMID:22665976 20150821 RGD DNA:splice-site mutaion:intron: IVS3+2 T>G (human) 2415 Cryba1 crystallin, beta A1 gene DOID:9282 ocular hypertension IEP D RGD:1601004|PMID:17102796 20070403 RGD mRNA:decreased expression:retina 2416 Crybb1 crystallin, beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:7240710 20130731 OMIM 2416 Crybb1 crystallin, beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21972112|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 2416 Crybb1 crystallin, beta B1 gene DOID:0110271 cataract 23 ISO RGD:731502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 2416 Crybb1 crystallin, beta B1 gene DOID:5419 schizophrenia ISO RGD:731502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2416 Crybb1 crystallin, beta B1 gene DOID:630 genetic disease ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2416 Crybb1 crystallin, beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12360425 2416 Crybb1 crystallin, beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:728217|PMID:12360425 19990101 RGD DNA:nonsense mutation:cds:p.G220X (human) 2416 Crybb1 crystallin, beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538 2417 Crybb2 crystallin, beta B2 gene DOID:0110260 cataract 7 ISO RGD:734352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9158139 2417 Crybb2 crystallin, beta B2 gene DOID:0110269 cataract 3 multiple types ISO RGD:734352 D RGD:7240710 20130731 OMIM 2417 Crybb2 crystallin, beta B2 gene DOID:0110269 cataract 3 multiple types ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types PMID:10634616|PMID:11424921|PMID:15889016|PMID:16199547|PMID:16319073|PMID:17234267|PMID:17653036|PMID:19649175|PMID:22312185|PMID:2240043|PMID:24120835|PMID:24704203|PMID:25741868|PMID:26694549|PMID:27385965|PMID:28492532|PMID:29386872|PMID:29395391|PMID:30450742|PMID:33594837|PMID:8812489|PMID:9158139 2417 Crybb2 crystallin, beta B2 gene DOID:13141 uveitis ISO RGD:734352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 2417 Crybb2 crystallin, beta B2 gene DOID:417 autoimmune disease ISO RGD:734352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 2417 Crybb2 crystallin, beta B2 gene DOID:630 genetic disease ISO RGD:734352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22312185|PMID:23389822|PMID:24120835|PMID:24704203 2417 Crybb2 crystallin, beta B2 gene DOID:83 cataract ISO RGD:734352 D RGD:734832|PMID:11424921 20150304 RGD DNA:nonsense mutation: :p.Q155X (human) 2417 Crybb2 crystallin, beta B2 gene DOID:83 cataract ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10634616|PMID:11424921|PMID:15889016|PMID:17234267|PMID:2240043|PMID:25741868|PMID:26694549|PMID:27385965|PMID:28492532|PMID:29395391|PMID:8812489|PMID:9158139 2417 Crybb2 crystallin, beta B2 gene DOID:83 cataract susceptibility ISO RGD:734352 D RGD:1601011|PMID:9158139 20070403 RGD congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation 2417 Crybb2 crystallin, beta B2 gene DOID:9004255 Cataract, Sutural, with Punctate and Cerulean Opacities ISO RGD:734352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities PMID:10634616|PMID:11424921|PMID:15889016|PMID:17234267|PMID:2240043|PMID:25741868|PMID:27385965|PMID:28492532|PMID:29395391|PMID:8812489|PMID:9158139 2421 Crygc crystallin, gamma C gene DOID:0110235 cataract 2 multiple types ISO RGD:736578 D RGD:7240710 20130221 OMIM 2421 Crygc crystallin, gamma C gene DOID:0110235 cataract 2 multiple types ISO RGD:736578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 2, Coppock-like | ClinVar Annotator: match by term: Cataract 2, multiple types | ClinVar Annotator: match by term: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract PMID:10521291|PMID:10914683|PMID:12011157|PMID:12601044|PMID:17679936|PMID:18587492|PMID:19204787|PMID:22052681|PMID:22876111|PMID:24033266|PMID:24281366|PMID:25148791|PMID:25741868|PMID:26694549|PMID:27307692|PMID:27535533|PMID:28298635|PMID:28492532|PMID:30450742|PMID:8004095|PMID:8190472 2421 Crygc crystallin, gamma C gene DOID:0110248 cataract 30 ISO RGD:736578 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Cataract, Coppock-like PMID:24281366|PMID:26694549 2421 Crygc crystallin, gamma C gene DOID:0110839 Usher syndrome type 2C ISO RGD:736578 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:24033266|PMID:25741868|PMID:28492532 2421 Crygc crystallin, gamma C gene DOID:14557 primary pulmonary hypertension ISO RGD:736578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2421 Crygc crystallin, gamma C gene DOID:630 genetic disease ISO RGD:736578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2421 Crygc crystallin, gamma C gene DOID:83 cataract ISO RGD:736578 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10914683|PMID:11773036 2421 Crygc crystallin, gamma C gene DOID:83 cataract ISO RGD:736578 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24281366|PMID:26694549 2421 Crygc crystallin, gamma C gene DOID:83 cataract susceptibility ISO RGD:736578 D RGD:1601015|PMID:10521291 20070403 RGD Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C 2421 Crygc crystallin, gamma C gene DOID:8466 retinal degeneration IDA D RGD:2317932|PMID:16602829 20100430 RGD 2421 Crygc crystallin, gamma C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736578 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2422 Crygd crystallin, gamma D gene DOID:0110234 cataract 4 multiple types ISO RGD:735833 D RGD:7240710 20160615 OMIM 2422 Crygd crystallin, gamma D gene DOID:0110234 cataract 4 multiple types ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple types PMID:10521291|PMID:10688888|PMID:10915766|PMID:11371638|PMID:12011157|PMID:12676897|PMID:16446699|PMID:17564961|PMID:17724170|PMID:19382745|PMID:19390652|PMID:19668596|PMID:21827768|PMID:22995991|PMID:25403472|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28474685|PMID:28492532|PMID:9927684 2422 Crygd crystallin, gamma D gene DOID:0110235 cataract 2 multiple types ISS RGD:10409 D RGD:13592920 20180518 MouseDO OMIM:604307 2422 Crygd crystallin, gamma D gene DOID:0110260 cataract 7 susceptibility ISO RGD:735833 D RGD:1601016|PMID:12676897 20070403 RGD DNA:transversion:exon:p.P23T (human) 2422 Crygd crystallin, gamma D gene DOID:0110986 Joubert Syndrome 17 ISO RGD:735833 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:19390652|PMID:22995991|PMID:25741868|PMID:28492532 2422 Crygd crystallin, gamma D gene DOID:14557 primary pulmonary hypertension ISO RGD:735833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2422 Crygd crystallin, gamma D gene DOID:630 genetic disease ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 2422 Crygd crystallin, gamma D gene DOID:83 cataract ISO RGD:735833 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:9927684|PMID:30242128 2422 Crygd crystallin, gamma D gene DOID:83 cataract ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:12011157|PMID:12676897|PMID:17724170|PMID:21827768|PMID:25403472|PMID:26694549|PMID:28474685|PMID:28492532 2422 Crygd crystallin, gamma D gene DOID:83 cataract TAS D RGD:1298817|PMID:7849105 19990101 RGD 2422 Crygd crystallin, gamma D gene DOID:9001574 Crystalline Aculeiform Cataract ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aculeiform cataract PMID:10521291|PMID:10688888|PMID:10704279|PMID:11371638|PMID:12011157|PMID:12676897|PMID:16446699|PMID:17724170|PMID:19382745|PMID:19390652|PMID:19668596|PMID:21827768|PMID:22995991|PMID:25403472|PMID:25741868|PMID:26694549|PMID:27455011|PMID:28166811|PMID:28450710|PMID:28474685|PMID:28492532|PMID:9927684 2422 Crygd crystallin, gamma D gene DOID:9002189 High Myopia ISO RGD:735833 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 2422 Crygd crystallin, gamma D gene DOID:9003568 Cataract, Congenital Dominant Non Nuclear ISO RGD:735833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonnuclear polymorphic congenital cataract PMID:12011157|PMID:12676897|PMID:17724170|PMID:21827768|PMID:25403472|PMID:26694549|PMID:28474685|PMID:28492532 2422 Crygd crystallin, gamma D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735833 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2422 Crygd crystallin, gamma D gene DOID:9005369 Hepatomegaly ISO RGD:735833 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0050424 familial adenomatous polyposis severity ISO RGD:14209790 D RGD:9068941 20211126 RGD DNA:SNPs,haplotype:promoter:multiple (pig) PMID:32717306|REF_RGD_ID:150524307 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:737004 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:18971950 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0080006 bone development disease IMP D RGD:41404725|PMID:30249809 20210413 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0080199 colorectal carcinoma ISO RGD:737004 D RGD:150524297|PMID:28675510 20220928 RGD mRNA:decreased expression:colorectal mucosa (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:7240710 20151216 OMIM 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1 PMID:16523341|PMID:19153373|PMID:22197934|PMID:22503135|PMID:22934315|PMID:23038421|PMID:23408870|PMID:23411710|PMID:23649896|PMID:23816250|PMID:24034409|PMID:24088041|PMID:24094860|PMID:24120500|PMID:24145216|PMID:24198292|PMID:24336230|PMID:24532199|PMID:2470618|PMID:25012610|PMID:25311247|PMID:25563800|PMID:25741868|PMID:25863088|PMID:26141177|PMID:26141825|PMID:26633545|PMID:27619214|PMID:27680516|PMID:28492532|PMID:28824062|PMID:28843019|PMID:29389947|PMID:29544907|PMID:30268725|PMID:30279455|PMID:30528841|PMID:30661751|PMID:30982609|PMID:31705326|PMID:32055602|PMID:34652888|PMID:8614507 2425 Csf1r colony stimulating factor 1 receptor gene DOID:0080855 Parkinsonism ISO RGD:737004 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 2425 Csf1r colony stimulating factor 1 receptor gene DOID:10534 stomach cancer exacerbates ISO RGD:737004 D RGD:150524281|PMID:29767252 20211124 RGD mRNA:increased expression:stomach (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:737004 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 2425 Csf1r colony stimulating factor 1 receptor gene DOID:13139 crescentic glomerulonephritis treatment IMP D RGD:151665815|PMID:23408165 20220404 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:1324 lung cancer exacerbates ISO RGD:737004 D RGD:150524284|PMID:29323162 20211124 RGD protein:increased expression:lung (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:1324 lung cancer susceptibility ISO RGD:737004 D RGD:150524283|PMID:25144241 20211124 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:737004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 2425 Csf1r colony stimulating factor 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:737004 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:2406720|PMID:25157968 2425 Csf1r colony stimulating factor 1 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:737004 D RGD:2293711|PMID:14734466 20080610 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:1612 breast cancer treatment ISO RGD:10412 D RGD:150524304|PMID:25385645 20211124 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:10412 D RGD:150524289|PMID:29436396 20211124 RGD mouse cell line in a mouse model 2425 Csf1r colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:10412 D RGD:150524303|PMID:24898549 20211124 RGD mouse cell line in a mouse model 2425 Csf1r colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:737004 D RGD:150524290|PMID:32304779 20211124 RGD human cells in a mouse model 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:10412 D RGD:7257565|PMID:23143303 20130823 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3744 cervical squamous cell carcinoma ISO RGD:737004 D RGD:2299119|PMID:18565574 20080812 RGD protein:increased expression:uterine cervix 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:32038997|REF_RGD_ID:150524298 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:737004 D RGD:150524280|PMID:23702648 20211124 RGD protein:increased expression:lung (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:150524294|PMID:24451080 20211124 RGD mRNA:decreased expression:lung (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:150524295|PMID:33428598 20211124 RGD mRNA,protein:increased expression:lung (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:737004 D RGD:150524288|PMID:27486763 20211124 RGD human cells in a mouse model 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737004 D RGD:150524292|PMID:28449811 20211124 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:737004 D RGD:150524280|PMID:23702648 20211124 RGD protein:increased expression:lung (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:2299092|PMID:18592004 20080812 RGD mRNA:increased expression:kidney 2425 Csf1r colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:7257566|PMID:22052465 20130826 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10412 D RGD:150524293|PMID:32302573 20211124 RGD mouse cell line in a mouse model 2425 Csf1r colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis ameliorates IMP D RGD:151665824|PMID:21519331 20220405 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis treatment IDA D RGD:7257569|PMID:19242505 20130826 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:5082 liver cirrhosis exacerbates ISO RGD:737004 D RGD:11079330|PMID:26437001 20211124 RGD associated with hepatitis C, liver cirrhosis;protein:increased expression:serum (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:5199 ureteral obstruction ISO RGD:10412 D RGD:7257574|PMID:16951369 20130826 RGD protein:increased expression:kidney, macrophage 2425 Csf1r colony stimulating factor 1 receptor gene DOID:5223 infertility IMP D RGD:41404725|PMID:30249809 20210413 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:5409 lung small cell carcinoma exacerbates ISO RGD:737004 D RGD:150524305|PMID:1390197 20211124 RGD protein:increased expression:lung (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:614 lymphopenia IMP D RGD:41404725|PMID:30249809 20210413 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:630 genetic disease ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24120500|PMID:24145216|PMID:24336230|PMID:25741868|PMID:28492532|PMID:30982609 2425 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:150524286|PMID:32760707 20211124 RGD protein:increased expression: liver (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:150524302|PMID:14969845 20211124 RGD protein:increased expression:liver (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:150524301|PMID:11412385 20211124 RGD DNA:hypomethylation 2425 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma severity ISO RGD:737004 D RGD:150524282|PMID:32724427 20211124 RGD DNA:hypomethylation:promoter (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:7474 malignant pleural mesothelioma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:peritoneum�� (human) PMID:24722292|REF_RGD_ID:150524278 2425 Csf1r colony stimulating factor 1 receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:737004 D RGD:2293712|PMID:12381783 20080610 RGD protein:increased expression:prostate gland 2425 Csf1r colony stimulating factor 1 receptor gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737004 D RGD:2299119|PMID:18565574 20080812 RGD protein:increased expression:uterine cervix 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737004 D RGD:2293711|PMID:14734466 20080610 RGD associated with Breast Neoplasms 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:10412 D RGD:150524300|PMID:23451116 20211124 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:2293638|PMID:18510570 20080610 RGD associated with Prostatic Neoplasms 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:10412 D RGD:150524287|PMID:25005824 20211124 RGD associated with breast cancer 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:151665767|PMID:32141565 20220331 RGD mRNA,protein:increased expression:kidney (rat) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:10412 D RGD:2311340|PMID:19466391 20130826 RGD associated with Diabetes Mellitus, Type 2 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:737004 D RGD:2293712|PMID:12381783 20080610 RGD protein:increased expression:prostate gland 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9002438 Foreign-Body Reaction IMP D RGD:151665762|PMID:33841088 20220331 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:151665814|PMID:18434589 20220404 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9002704 Leukoencephalopathies ISO RGD:737004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197934 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:151665766|PMID:33101590 20220331 RGD protein:increased expression:right cerebral hemisphere, astrocyte, neuron (rat) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates IMP D RGD:151665765|PMID:32522286 20220331 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:10412 D RGD:150524291|PMID:20008303 20211124 RGD mouse cell line in a mouse model 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9004283 Transplant Rejection IMP D RGD:151665812|PMID:24056626 20220404 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737004 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:151665779|PMID:19219684 20220404 RGD mRNA,protein:increased expression:retina (rat) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:7240710 20190807 OMIM 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis PMID:22503135|PMID:23408870|PMID:24120500|PMID:24145216|PMID:24336230|PMID:25563800|PMID:25741868|PMID:28492532|PMID:30982608|PMID:30982609|PMID:32055602|PMID:8614507 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9006182 Carotid Artery Injuries IEP D RGD:151665776|PMID:27135205 20220404 RGD mRNA, protein:increased expression: carotid artery endothelium (rat) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10412 D RGD:7257565|PMID:23143303 20130823 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:18971950|PMID:2406720|PMID:25157968 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9008091 Optic Nerve Injuries IEP D RGD:151665810|PMID:20187850 20220404 RGD mRNA:increased expression:retina (rat) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:737004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737004 D RGD:149735515|PMID:21171987 20211124 RGD DNA:mutation:exon 9: (human) 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9255 frontotemporal dementia ISO RGD:737004 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9256 colorectal cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:decreased expression:colorectum (human) PMID:32118593|REF_RGD_ID:150524285 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:737004 D RGD:150524299|PMID:22267178 20211124 RGD 2425 Csf1r colony stimulating factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:737004 D RGD:150524282|PMID:32724427 20211124 RGD associated with hepatocellular��carcinoma;DNA:hypermethylation:promoter (human) 2426 Csf3 colony stimulating factor 3 gene DOID:0001816 angiosarcoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9774950 2426 Csf3 colony stimulating factor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11321886 2426 Csf3 colony stimulating factor 3 gene DOID:0050852 limb ischemia treatment ISO RGD:1350955 D RGD:10400895|PMID:23294128 20150922 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:0050852 limb ischemia treatment ISO RGD:1350955 D RGD:11039414|PMID:16224058 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11911406 2426 Csf3 colony stimulating factor 3 gene DOID:0080000 muscular disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 2426 Csf3 colony stimulating factor 3 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 2426 Csf3 colony stimulating factor 3 gene DOID:0080178 mucositis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7543699|PMID:17047649 2426 Csf3 colony stimulating factor 3 gene DOID:0080600 COVID-19 ISO RGD:1350955 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 2426 Csf3 colony stimulating factor 3 gene DOID:0080600 COVID-19 severity ISO RGD:1350955 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 2426 Csf3 colony stimulating factor 3 gene DOID:0080600 COVID-19 severity ISO RGD:1350955 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2426 Csf3 colony stimulating factor 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1350955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 2426 Csf3 colony stimulating factor 3 gene DOID:10247 pleurisy ISO RGD:1350955 D RGD:11039424|PMID:8841835 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7525883|PMID:17515069 2426 Csf3 colony stimulating factor 3 gene DOID:114 heart disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19429242 2426 Csf3 colony stimulating factor 3 gene DOID:11450 allergic cutaneous vasculitis treatment ISO RGD:1350955 D RGD:11039037|PMID:20100783 20160301 RGD associated with Severe Congenital Neutropenia; 2426 Csf3 colony stimulating factor 3 gene DOID:12010 anterior ischemic optic neuropathy treatment ISO RGD:1350955 D RGD:11039419|PMID:24316388 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:11039039|PMID:10654961 20160301 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7524159|PMID:7529132|PMID:7543699|PMID:7688884|PMID:9740541|PMID:9774950|PMID:11712802|PMID:12085204|PMID:12884814|PMID:12926135|PMID:15585077|PMID:16761898|PMID:27737899 2426 Csf3 colony stimulating factor 3 gene DOID:12449 aplastic anemia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1642096|PMID:9777751|PMID:10544668|PMID:10629575|PMID:15863969|PMID:16553037 2426 Csf3 colony stimulating factor 3 gene DOID:12450 pancytopenia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9051142|PMID:17505274 2426 Csf3 colony stimulating factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17334414 2426 Csf3 colony stimulating factor 3 gene DOID:12987 agranulocytosis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15999287 2426 Csf3 colony stimulating factor 3 gene DOID:13250 diarrhea ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 2426 Csf3 colony stimulating factor 3 gene DOID:1561 cognitive disorder treatment ISO RGD:1350955 D RGD:11039464|PMID:20410588 20160304 RGD associated with Status Epilepticus; 2426 Csf3 colony stimulating factor 3 gene DOID:1588 thrombocytopenia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7543699|PMID:12085204 2426 Csf3 colony stimulating factor 3 gene DOID:1596 depressive disorder ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9018096 2426 Csf3 colony stimulating factor 3 gene DOID:1679 cystitis IEP D RGD:2317284|PMID:18848347 20110628 RGD protein:increased expression:urinary bladder 2426 Csf3 colony stimulating factor 3 gene DOID:1909 melanoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16120623|PMID:16260693 2426 Csf3 colony stimulating factor 3 gene DOID:1967 leiomyosarcoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9774950 2426 Csf3 colony stimulating factor 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1350955 D RGD:10450512|PMID:12624302 20160115 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:2316 brain ischemia ISO RGD:1350955 D RGD:2311241|PMID:18832793 20110628 RGD associated with Diabetes Mellitus, Experimental 2426 Csf3 colony stimulating factor 3 gene DOID:2355 anemia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:16076697|PMID:17047649 2426 Csf3 colony stimulating factor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7525883|PMID:7543010 2426 Csf3 colony stimulating factor 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 2426 Csf3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:1350955 D RGD:5133731|PMID:21396376 20110628 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:731416 D RGD:5131473|PMID:20405019 20110428 RGD protein:increased expression:lung 2426 Csf3 colony stimulating factor 3 gene DOID:305 carcinoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9018096 2426 Csf3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction IEP D RGD:11039425|PMID:15530654 20160303 RGD mRNA, protein:increased expression:brain: 2426 Csf3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1350955 D RGD:11039420|PMID:19298757 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 2426 Csf3 colony stimulating factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7692001 2426 Csf3 colony stimulating factor 3 gene DOID:409 liver disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19429242 2426 Csf3 colony stimulating factor 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9093707 2426 Csf3 colony stimulating factor 3 gene DOID:557 kidney disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19429242 2426 Csf3 colony stimulating factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 2426 Csf3 colony stimulating factor 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1350955 D RGD:11039417|PMID:15639484 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:6000 congestive heart failure ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15585077 2426 Csf3 colony stimulating factor 3 gene DOID:615 leukopenia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7543699|PMID:16076697|PMID:16120623|PMID:16937080 2426 Csf3 colony stimulating factor 3 gene DOID:630 genetic disease ISO RGD:1350955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2426 Csf3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension ISO RGD:1350955 D RGD:11039539|PMID:12524378 20160307 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1350955 D RGD:11039432|PMID:17186992 20160303 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:707 B-cell lymphoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11042651 2426 Csf3 colony stimulating factor 3 gene DOID:77 gastrointestinal system disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 2426 Csf3 colony stimulating factor 3 gene DOID:8472 localized scleroderma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15863969 2426 Csf3 colony stimulating factor 3 gene DOID:850 lung disease IEP D RGD:5133737|PMID:9374735 20110628 RGD associated with Shock, Hemorrhagic;protein:increased expression:bronchus epithelium 2426 Csf3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:1350955 D RGD:5133732|PMID:21155037 20110628 RGD associated with Hyperoxia 2426 Csf3 colony stimulating factor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17562247 2426 Csf3 colony stimulating factor 3 gene DOID:863 nervous system disease ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 2426 Csf3 colony stimulating factor 3 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:1350955 D RGD:11039040|PMID:7510191 20160301 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1350955 D RGD:5133733|PMID:21373266 20110628 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia treatment ISO RGD:1350955 D RGD:11039437|PMID:12352049 20160303 RGD associated with Peritonitis; 2426 Csf3 colony stimulating factor 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1350955 D RGD:10450511|PMID:21953623 20160115 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9000040 Hypertrophy ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18785976 2426 Csf3 colony stimulating factor 3 gene DOID:9000046 Poisoning ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15727166 2426 Csf3 colony stimulating factor 3 gene DOID:9000053 Headache ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10864982 2426 Csf3 colony stimulating factor 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1350955 D RGD:11039462|PMID:16689657 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7692001 2426 Csf3 colony stimulating factor 3 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12176798 2426 Csf3 colony stimulating factor 3 gene DOID:9000310 Lung Injury ISO RGD:1350955 D RGD:11039441|PMID:14585735 20160303 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9000641 Pain ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7541186|PMID:8622042|PMID:10864982 2426 Csf3 colony stimulating factor 3 gene DOID:9000784 Fibrosis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18785976|PMID:20005281 2426 Csf3 colony stimulating factor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7543699|PMID:9018096 2426 Csf3 colony stimulating factor 3 gene DOID:9000972 Fever ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 2426 Csf3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2426 Csf3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:1350955 D RGD:11039431|PMID:24239694 20160303 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9001039 Leukocytosis ISO RGD:1350955 D RGD:11039421|PMID:18756972 20160302 RGD associated with neoplasms; 2426 Csf3 colony stimulating factor 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:1350955 D RGD:11039478|PMID:10228098 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:11039034|PMID:15785251 20160301 RGD associated with Graves Disease; 2426 Csf3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:11039041|PMID:8935143 20160301 RGD associated with Multiple Myeloma; 2426 Csf3 colony stimulating factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15661404 2426 Csf3 colony stimulating factor 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:17334414 2426 Csf3 colony stimulating factor 3 gene DOID:9002174 Disease Susceptibility ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 2426 Csf3 colony stimulating factor 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1350955 D RGD:11039470|PMID:24253780 20160304 RGD associated with Sciatic Neuropathy; 2426 Csf3 colony stimulating factor 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1350955 D RGD:11039465|PMID:12742377 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9002641 Bone Marrow Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 2426 Csf3 colony stimulating factor 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1350955 D RGD:11039433|PMID:19169816 20160303 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1350955 D RGD:11039480|PMID:18676396 20160304 RGD associated with Myocardial Infarction; 2426 Csf3 colony stimulating factor 3 gene DOID:9003199 Systemic Vasculitis ISO RGD:1350955 D RGD:11039411|PMID:23087180 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2426 Csf3 colony stimulating factor 3 gene DOID:9003491 Enterobacteriaceae Infections IEP D RGD:11039473|PMID:9835289 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1350955 D RGD:11039411|PMID:23087180 20160302 RGD protein:increased expression:serum: 2426 Csf3 colony stimulating factor 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9774950 2426 Csf3 colony stimulating factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1350955 D RGD:11039422|PMID:18589159 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9774950 2426 Csf3 colony stimulating factor 3 gene DOID:9004484 Sepsis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17505274 2426 Csf3 colony stimulating factor 3 gene DOID:9004484 Sepsis treatment ISO RGD:1350955 D RGD:11039434|PMID:8706460 20160303 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:11039035|PMID:2461131 20160301 RGD associated with Leukemia, Hairy Cell; 2426 Csf3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:11039036|PMID:17660602 20160301 RGD associated with Hepatitis C, Chronic; 2426 Csf3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21550386 2426 Csf3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1350955 D RGD:11039421|PMID:18756972 20160302 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1350955 D RGD:11039537|PMID:21550386 20160307 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9005532 Muscle Weakness ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 2426 Csf3 colony stimulating factor 3 gene DOID:9005600 Infarction ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15135374 2426 Csf3 colony stimulating factor 3 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 2426 Csf3 colony stimulating factor 3 gene DOID:9005930 Endotoxemia treatment ISO RGD:1350955 D RGD:11039535|PMID:9514298 20160307 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9006065 Arthralgia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 2426 Csf3 colony stimulating factor 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7692001 2426 Csf3 colony stimulating factor 3 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11039423|PMID:15385271 20160302 RGD protein:increased expression:smooth muscle cell: 2426 Csf3 colony stimulating factor 3 gene DOID:9006205 Animal Disease Models ISO RGD:1350955 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27737899 2426 Csf3 colony stimulating factor 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1350955 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7692001|PMID:27737899|PMID:31557154 2426 Csf3 colony stimulating factor 3 gene DOID:9007096 Stroke ISO RGD:1350955 D RGD:5134350|PMID:17656664 20110630 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1350955 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:9018096 2426 Csf3 colony stimulating factor 3 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:1350955 D RGD:11039538|PMID:8656607 20160307 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20005281 2426 Csf3 colony stimulating factor 3 gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7543699 2426 Csf3 colony stimulating factor 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1350955 D RGD:11039476|PMID:9117128 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:1350955 D RGD:11039471|PMID:20144610 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9008232 Neutrophilia treatment ISO RGD:1350955 D RGD:11039032|PMID:2475183 20160301 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9008625 Somatosensory Disorders ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 2426 Csf3 colony stimulating factor 3 gene DOID:9008691 Liver Injury treatment ISO RGD:1350955 D RGD:11039467|PMID:8864679 20160304 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9008885 Staphylococcal Infections ISO RGD:1350955 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27737899 2426 Csf3 colony stimulating factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7541186|PMID:7543699|PMID:7692001|PMID:9018096|PMID:12926135|PMID:16076697|PMID:16298037|PMID:17047649 2426 Csf3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7528855 2426 Csf3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1350955 D RGD:11039033|PMID:10673519 20160301 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9538 multiple myeloma ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7534716|PMID:7540856 2426 Csf3 colony stimulating factor 3 gene DOID:9637 stomatitis ISO RGD:1350955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12085204 2426 Csf3 colony stimulating factor 3 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1350955 D RGD:11039438|PMID:19537526 20160303 RGD 2426 Csf3 colony stimulating factor 3 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350955 D RGD:11039038|PMID:9250830 20160301 RGD 2430 Csn1s1 casein alpha s1 gene DOID:630 genetic disease ISO RGD:1606842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2430 Csn1s1 casein alpha s1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2431 Cspg5 chondroitin sulfate proteoglycan 5 gene DOID:630 genetic disease ISO RGD:733098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2431 Cspg5 chondroitin sulfate proteoglycan 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 2432 Cst3 cystatin C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2432 Cst3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18566660 2432 Cst3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:7240710 20130221 OMIM 2432 Cst3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type PMID:11815350|PMID:2363674|PMID:2567273|PMID:25741868|PMID:25893795|PMID:28492532|PMID:2900981|PMID:33116287|PMID:8108423 2432 Cst3 cystatin C gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:7240710 20130425 OMIM 2432 Cst3 cystatin C gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 11 PMID:11815350|PMID:25741868|PMID:25893795|PMID:28492532|PMID:33116287 2432 Cst3 cystatin C gene DOID:10591 pre-eclampsia ISO RGD:736914 D RGD:2314350|PMID:18197549 20091111 RGD protein:increased expression:plasma (human) 2432 Cst3 cystatin C gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17192785|PMID:18026100 2432 Cst3 cystatin C gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:1358533|PMID:15907478 20200804 RGD protein:increased expression:plasma 2432 Cst3 cystatin C gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736914 D RGD:2314333|PMID:18824671 20091111 RGD protein:decreased expression:serum (human) 2432 Cst3 cystatin C gene DOID:10941 intracranial aneurysm IEP D RGD:2306495|PMID:18635848 20120131 RGD mRNA:decreased expression:brain, artery 2432 Cst3 cystatin C gene DOID:11758 iron deficiency anemia IEP D RGD:2301196|PMID:18723004 20091110 RGD mRNA:increased expression:hippocampus (rat) 2432 Cst3 cystatin C gene DOID:12842 Guillain-Barre syndrome ISO RGD:736914 D RGD:5686395|PMID:11134381 20120120 RGD protein:decreased expression:cerebrospinal fluid 2432 Cst3 cystatin C gene DOID:1287 cardiovascular system disease ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21356263 2432 Cst3 cystatin C gene DOID:1389 polyneuropathy ISO RGD:736914 D RGD:5686395|PMID:11134381 20120120 RGD protein:decreased expression:cerebrospinal fluid 2432 Cst3 cystatin C gene DOID:2316 brain ischemia ISO RGD:736914 D RGD:2314349|PMID:18261165 20091111 RGD protein:decreased expression:cerebrospinal fluid 2432 Cst3 cystatin C gene DOID:2377 multiple sclerosis ISO RGD:10415 D RGD:5686392|PMID:17086443 20120120 RGD 2432 Cst3 cystatin C gene DOID:2377 multiple sclerosis ISO RGD:736914 D RGD:5686394|PMID:12589965 20120120 RGD protein:decreased expression:cerebrospinal fluid 2432 Cst3 cystatin C gene DOID:3021 acute kidney failure ISO RGD:736914 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:28885000 2432 Cst3 cystatin C gene DOID:3393 coronary artery disease ISO RGD:736914 D RGD:2314352|PMID:17983622 20091111 RGD protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:341 peripheral vascular disease ISO RGD:736914 D RGD:2314304|PMID:19761940 20091110 RGD protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:3565 meningioma ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 2432 Cst3 cystatin C gene DOID:557 kidney disease ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22525860|PMID:24863737 2432 Cst3 cystatin C gene DOID:557 kidney disease onset ISO RGD:736914 D RGD:2314320|PMID:19291539 20091110 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:5773 oral submucous fibrosis ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 2432 Cst3 cystatin C gene DOID:6000 congestive heart failure susceptibility ISO RGD:736914 D RGD:2314311|PMID:19539088 20091110 RGD protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:630 genetic disease ISO RGD:736914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2432 Cst3 cystatin C gene DOID:9000046 Poisoning ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22525860 2432 Cst3 cystatin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:736914 D RGD:5686394|PMID:12589965 20120120 RGD protein:decreased expression:cerebrospinal fluid 2432 Cst3 cystatin C gene DOID:9001542 Albuminuria ISO RGD:736914 D RGD:2314309|PMID:19596469 20091110 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736914 D RGD:2314308|PMID:19741512 20091110 RGD associated with Myocardial Infarction;protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2314297|PMID:18946178 20091111 RGD protein:increased expression:plasma (rat) 2432 Cst3 cystatin C gene DOID:9002165 Diabetic Nephropathies ISO RGD:736914 D RGD:2314328|PMID:19132849 20091111 RGD protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:9002801 Recurrence ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 2432 Cst3 cystatin C gene DOID:9004492 Familial Amyloidosis ISO RGD:736914 D RGD:2314354|PMID:3517880 20091111 RGD protein:missense mutation:cds:p.L68Q (human) 2432 Cst3 cystatin C gene DOID:9006646 Metabolic Syndrome ISO RGD:736914 D RGD:2314295|PMID:19887833 20091110 RGD protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736914 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2432 Cst3 cystatin C gene DOID:9007692 Insulin Resistance ISO RGD:736914 D RGD:2314305|PMID:19765773 20091110 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:9007980 Sleep Deprivation IEP D RGD:2306498|PMID:17027151 20131101 RGD 2432 Cst3 cystatin C gene DOID:9119 acute myeloid leukemia ISO RGD:736914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2432 Cst3 cystatin C gene DOID:9352 type 2 diabetes mellitus ISO RGD:736914 D RGD:2314295|PMID:19887833 20091110 RGD protein:increased expression:serum (human) 2432 Cst3 cystatin C gene DOID:9970 obesity IEP D RGD:2314297|PMID:18946178 20091110 RGD protein:increased expression:plasma (rat) 2432 Cst3 cystatin C gene DOID:9970 obesity ISO RGD:736914 D RGD:2314346|PMID:18374694 20091111 RGD protein:increased expression:serum (human) 2434 Cst8 cystatin 8 gene DOID:12336 male infertility ISO RGD:736077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20811015 2434 Cst8 cystatin 8 gene DOID:630 genetic disease ISO RGD:736077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2435 Cstb cystatin B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 2435 Cstb cystatin B gene DOID:0110266 cataract 9 multiple types ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 2435 Cstb cystatin B gene DOID:0111452 progressive myoclonus epilepsy 1A ISO RGD:735434 D RGD:7240710 20191106 OMIM 2435 Cstb cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 2435 Cstb cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 2435 Cstb cystatin B gene DOID:10907 microcephaly ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 2435 Cstb cystatin B gene DOID:11832 visual epilepsy IEP D RGD:729930|PMID:10792446 20150304 RGD mRNA, protein:increased expression:brain 2435 Cstb cystatin B gene DOID:11832 visual epilepsy ISO RGD:735434 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 2435 Cstb cystatin B gene DOID:12849 autistic disorder ISO RGD:735434 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2435 Cstb cystatin B gene DOID:3068 glioblastoma ISO RGD:735434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 2435 Cstb cystatin B gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 2435 Cstb cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11814737|PMID:25288807 2435 Cstb cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:7240710 20191113 OMIM 2435 Cstb cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Unverricht-Lundborg syndrome PMID:11814737|PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22154554|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 2435 Cstb cystatin B gene DOID:3565 meningioma ISO RGD:735434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 2435 Cstb cystatin B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735434 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2435 Cstb cystatin B gene DOID:543 dystonia ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 2435 Cstb cystatin B gene DOID:630 genetic disease ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15483648|PMID:17003839|PMID:17217964|PMID:23091450|PMID:23205931|PMID:2347312|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9360639 2435 Cstb cystatin B gene DOID:891 progressive myoclonus epilepsy ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17576681|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23091450|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639|PMID:9536098 2435 Cstb cystatin B gene DOID:9002801 Recurrence ISO RGD:735434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 2435 Cstb cystatin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735434 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2435 Cstb cystatin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051|PMID:22287159 2435 Cstb cystatin B gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 2435 Cstb cystatin B gene DOID:9008675 Dyskinesias ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 2435 Cstb cystatin B gene DOID:9263 homocystinuria ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 2435 Cstb cystatin B gene DOID:9562 primary ciliary dyskinesia ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 2441 Ctbp1 C-terminal binding protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:732729 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 2441 Ctbp1 C-terminal binding protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 2441 Ctbp1 C-terminal binding protein 1 gene DOID:1059 intellectual disability ISO RGD:732729 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2441 Ctbp1 C-terminal binding protein 1 gene DOID:10907 microcephaly ISO RGD:732729 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2441 Ctbp1 C-terminal binding protein 1 gene DOID:1856 cherubism ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 2441 Ctbp1 C-terminal binding protein 1 gene DOID:630 genetic disease ISO RGD:732729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561|PMID:9536098 2441 Ctbp1 C-terminal binding protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 2441 Ctbp1 C-terminal binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17028196 2441 Ctbp1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:7240710 20190315 OMIM 2441 Ctbp1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561 2442 Ctf1 cardiotrophin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350898 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:736471 D RGD:13592920 20180518 MouseDO 2442 Ctf1 cardiotrophin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11058912|PMID:24033266|PMID:26084686|PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1350898 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 2442 Ctf1 cardiotrophin 1 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1350898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:10763 hypertension IEP D RGD:69823|PMID:8604995 20200917 RGD mRNA:increased expression:cardiac ventricle 2442 Ctf1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:1350898 D RGD:1626411|PMID:15716706 20070806 RGD protein:increased expression:plasma 2442 Ctf1 cardiotrophin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:1626410|PMID:11058912 20070806 RGD 2442 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:557 kidney disease ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23335628 2442 Ctf1 cardiotrophin 1 gene DOID:630 genetic disease ISO RGD:1350898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2442 Ctf1 cardiotrophin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 2442 Ctf1 cardiotrophin 1 gene DOID:9003936 Cardiomegaly ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18400235|PMID:19100119 2442 Ctf1 cardiotrophin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350898 D RGD:1626411|PMID:15716706 20200917 RGD associated with hypertension;protein:increased expression:plasma 2442 Ctf1 cardiotrophin 1 gene DOID:9005749 Necrosis ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23335628 2442 Ctf1 cardiotrophin 1 gene DOID:9006024 Hypotension ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11304496 2442 Ctf1 cardiotrophin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 2442 Ctf1 cardiotrophin 1 gene DOID:9352 type 2 diabetes mellitus ISS RGD:736471 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 2442 Ctf1 cardiotrophin 1 gene DOID:9970 obesity ISO RGD:1350898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 2443 Cth cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:7240710 20130221 OMIM 2443 Cth cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency PMID:12574942|PMID:15151507|PMID:18476726|PMID:19019829|PMID:19428278|PMID:20584029|PMID:23555315|PMID:25741868|PMID:28492532 2443 Cth cystathionine gamma-lyase gene DOID:1059 intellectual disability ISO RGD:732084 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 2443 Cth cystathionine gamma-lyase gene DOID:1909 melanoma ISO RGD:732084 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 2443 Cth cystathionine gamma-lyase gene DOID:630 genetic disease ISO RGD:732084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2443 Cth cystathionine gamma-lyase gene DOID:83 cataract IDA D RGD:1600763|PMID:15683713 20070326 RGD 2443 Cth cystathionine gamma-lyase gene DOID:9002231 Fetal Growth Retardation ISO RGD:732084 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 2443 Cth cystathionine gamma-lyase gene DOID:9007748 Retinal Neovascularization ISO RGD:732084 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27273718 2443 Cth cystathionine gamma-lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:732084 D RGD:1600761|PMID:12574942 20070326 RGD cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E 2443 Cth cystathionine gamma-lyase gene DOID:9279 hyperhomocysteinemia ISO RGD:732084 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Homocysteine, total plasma, elevated PMID:15151507 2444 Ctrb1 chymotrypsinogen B1 gene DOID:2565 macular corneal dystrophy ISO RGD:1347928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 2444 Ctrb1 chymotrypsinogen B1 gene DOID:4989 pancreatitis IEP D RGD:2303363|PMID:1716058 20090209 RGD mRNA, protein:decreased expression:pancreas 2444 Ctrb1 chymotrypsinogen B1 gene DOID:607 paraplegia ISO RGD:1347928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 2444 Ctrb1 chymotrypsinogen B1 gene DOID:630 genetic disease ISO RGD:1347928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2445 Ctsc cathepsin C gene DOID:1059 intellectual disability ISO RGD:736291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2445 Ctsc cathepsin C gene DOID:10763 hypertension IEP D RGD:1599651|PMID:657443 20070209 RGD 2445 Ctsc cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:7240710 20130221 OMIM 2445 Ctsc cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1 PMID:10581027|PMID:10662808|PMID:11180012|PMID:14974080|PMID:15585850|PMID:18723326|PMID:19816003|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28317349|PMID:28492532 2445 Ctsc cathepsin C gene DOID:2316 brain ischemia IEP D RGD:1599640|PMID:12843783 20070209 RGD mRNA:increased expression:cerebral cortex 2445 Ctsc cathepsin C gene DOID:3042 allergic contact dermatitis ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 2445 Ctsc cathepsin C gene DOID:3388 periodontal disease ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10662807 2445 Ctsc cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10662807|PMID:16008657 2445 Ctsc cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:1599638|PMID:10593994 20070209 RGD DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A 2445 Ctsc cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:7240710 20130221 OMIM 2445 Ctsc cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome PMID:10581027|PMID:10593994|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:12112662|PMID:14974080|PMID:15585850|PMID:18723326|PMID:18809751|PMID:19816003|PMID:23108224|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:33586345 2445 Ctsc cathepsin C gene DOID:5419 schizophrenia ISS RGD:10421 D RGD:13592920 20180518 MouseDO OMIM:181500 2445 Ctsc cathepsin C gene DOID:630 genetic disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2445 Ctsc cathepsin C gene DOID:9000217 Stomach Neoplasms ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2445 Ctsc cathepsin C gene DOID:9000918 Disease Progression ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2445 Ctsc cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10662807 2445 Ctsc cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:7240710 20130221 OMIM 2445 Ctsc cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:10581027|PMID:10593994|PMID:10662807|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:11922261|PMID:12112662|PMID:14974080|PMID:15111626|PMID:15585850|PMID:15606524|PMID:15727652|PMID:16199547|PMID:17576681|PMID:17943190|PMID:18723326|PMID:18809751|PMID:1886537|PMID:19816003|PMID:23108224|PMID:23311634|PMID:23397598|PMID:24033266|PMID:24936511|PMID:25741868|PMID:26205983|PMID:26957212|PMID:27062382|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:29925593|PMID:30548430|PMID:30854815|PMID:31282082|PMID:31980526|PMID:34341640|PMID:9536098 2445 Ctsc cathepsin C gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:1599653|PMID:843913 20070209 RGD 2445 Ctsc cathepsin C gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599652|PMID:148980 20070209 RGD 2445 Ctsc cathepsin C gene DOID:9007102 Myocardial Ischemia ISO RGD:736291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2445 Ctsc cathepsin C gene DOID:9970 obesity IEP D RGD:1599645|PMID:3705543 20070209 RGD 2446 Ctse cathepsin E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 2446 Ctse cathepsin E gene DOID:10283 prostate cancer ISO RGD:736046 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2446 Ctse cathepsin E gene DOID:12849 autistic disorder ISO RGD:736046 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2446 Ctse cathepsin E gene DOID:1540 parathyroid carcinoma ISO RGD:736046 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2446 Ctse cathepsin E gene DOID:3310 atopic dermatitis ISS RGD:10422 D RGD:13592920 20180518 MouseDO OMIM:603165 2446 Ctse cathepsin E gene DOID:630 genetic disease ISO RGD:736046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2446 Ctse cathepsin E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2446 Ctse cathepsin E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2446 Ctse cathepsin E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2446 Ctse cathepsin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736046 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2447 Ctsh cathepsin H gene DOID:0080322 polycystic kidney disease IEP D RGD:5686402|PMID:8840269 20120120 RGD protein:increased expression:kidney proximal tubule 2447 Ctsh cathepsin H gene DOID:12858 Huntington's disease ISO RGD:735454 D RGD:5686393|PMID:7561949 20120120 RGD protein:increased expression:caudate nucleus 2447 Ctsh cathepsin H gene DOID:2377 multiple sclerosis ISO RGD:10423 D RGD:5686392|PMID:17086443 20120120 RGD 2447 Ctsh cathepsin H gene DOID:2671 transitional cell carcinoma ISO RGD:735454 D RGD:2315615|PMID:15183956 20120120 RGD protein:increased expression:urinary bladder 2447 Ctsh cathepsin H gene DOID:2717 Bloom syndrome ISO RGD:735454 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2447 Ctsh cathepsin H gene DOID:3068 glioblastoma ISO RGD:735454 D RGD:1549417|PMID:8640738 20120120 RGD protein:increased expression:brain 2447 Ctsh cathepsin H gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10423 D RGD:5686391|PMID:17583678 20120120 RGD mRNA, protein:increased expression:spinal cord 2447 Ctsh cathepsin H gene DOID:630 genetic disease ISO RGD:735454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2447 Ctsh cathepsin H gene DOID:9000965 Neoplasm Metastasis ISO RGD:735454 D RGD:5686394|PMID:12589965 20120120 RGD protein:increased expression:cerebrospinal fluid 2447 Ctsh cathepsin H gene DOID:9005166 Contusions IEP D RGD:631244|PMID:11788364 20211223 RGD mRNA:increased expression:gastrocnemius (rat) 2447 Ctsh cathepsin H gene DOID:9007980 Sleep Deprivation IEP D RGD:2306498|PMID:17027151 20131101 RGD 2447 Ctsh cathepsin H gene DOID:9119 acute myeloid leukemia ISO RGD:735454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2447 Ctsh cathepsin H gene DOID:9256 colorectal cancer ISO RGD:735454 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2447 Ctsh cathepsin H gene DOID:9744 type 1 diabetes mellitus ISO RGD:735454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 2448 Ctsl cathepsin L gene DOID:0060180 colitis ISO RGD:10424 D RGD:5686873|PMID:21802389 20120130 RGD protein:increased activity:cecum, colon, spinal cord 2448 Ctsl cathepsin L gene DOID:0080599 Coronavirus infectious disease ISO RGD:736036 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16081529|PMID:23678171|PMID:27733646 2448 Ctsl cathepsin L gene DOID:0080600 COVID-19 ISO RGD:736036 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2448 Ctsl cathepsin L gene DOID:10754 otitis media IEP D RGD:1342442|PMID:15179208 20100106 RGD mRNA:decreased expression:middle ear mucosa (rat) 2448 Ctsl cathepsin L gene DOID:1184 nephrotic syndrome IEP D RGD:1304337|PMID:15197181 20100106 RGD mRNA, protein:increased expression:glomerulus (rat) 2448 Ctsl cathepsin L gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736036 D RGD:2315555|PMID:19096818 20100104 RGD 2448 Ctsl cathepsin L gene DOID:12930 dilated cardiomyopathy ISS RGD:10424 D RGD:13592920 20180518 MouseDO 2448 Ctsl cathepsin L gene DOID:1936 atherosclerosis ISO RGD:10424 D RGD:5687152|PMID:12213722 20120201 RGD 2448 Ctsl cathepsin L gene DOID:2316 brain ischemia IEP D RGD:2315571|PMID:18404379 20100105 RGD protein:increased activity:cerebrum (rat) 2448 Ctsl cathepsin L gene DOID:2377 multiple sclerosis ISO RGD:10424 D RGD:5686392|PMID:17086443 20120120 RGD 2448 Ctsl cathepsin L gene DOID:2945 severe acute respiratory syndrome ISO RGD:736036 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16081529|PMID:16339146|PMID:22496216|PMID:23678171 2448 Ctsl cathepsin L gene DOID:3565 meningioma ISO RGD:736036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 2448 Ctsl cathepsin L gene DOID:4989 pancreatitis IEP D RGD:2315546|PMID:19805911 20100104 RGD protein:altered processing:pancreas (rat) 2448 Ctsl cathepsin L gene DOID:576 proteinuria ISO RGD:736036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 2448 Ctsl cathepsin L gene DOID:630 genetic disease ISO RGD:736036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2448 Ctsl cathepsin L gene DOID:684 hepatocellular carcinoma IDA D RGD:2315605|PMID:15641152 20100105 RGD 2448 Ctsl cathepsin L gene DOID:767 muscular atrophy IEP D RGD:2315576|PMID:16928772 20100105 RGD mRNA:increased expression:soleus (rat) 2448 Ctsl cathepsin L gene DOID:7998 hyperthyroidism IEP D RGD:2315547|PMID:19777444 20100104 RGD mRNA:increased expression:extensor digitorum longus (rat) 2448 Ctsl cathepsin L gene DOID:9000217 Stomach Neoplasms ISO RGD:736036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2448 Ctsl cathepsin L gene DOID:9000934 Sprains and Strains IEP D RGD:2315597|PMID:15694131 20100105 RGD mRNA:increased expression:ligament (rat) 2448 Ctsl cathepsin L gene DOID:9001542 Albuminuria IDA D RGD:2315726|PMID:19023196 20100111 RGD associated with Hypertension 2448 Ctsl cathepsin L gene DOID:9002801 Recurrence ISO RGD:736036 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 2448 Ctsl cathepsin L gene DOID:9005166 Contusions IEP D RGD:631244|PMID:11788364 20211223 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) 2448 Ctsl cathepsin L gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1641826|PMID:14718385 20100106 RGD mRNA:increased expression:gastrocnemius muscle (rat) 2448 Ctsl cathepsin L gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:2315595|PMID:15758467 20100105 RGD protein:increased expression:annulus fibrosus (rat) 2448 Ctsl cathepsin L gene DOID:9006487 Reoviridae Infections ISO RGD:10424 D RGD:5686877|PMID:19640986 20120130 RGD 2448 Ctsl cathepsin L gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:2315588|PMID:16365386 20100105 RGD mRNA:increased expression:quadriceps (rat) 2448 Ctsl cathepsin L gene DOID:9352 type 2 diabetes mellitus ISO RGD:736036 D RGD:2315622|PMID:19074676 20100106 RGD protein:increased expression:right auricular appendage (human) 2448 Ctsl cathepsin L gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:10424 D RGD:2315625|PMID:12941783 20100106 RGD mRNA:increased expression:gastrocnemius muscle (mouse) 2448 Ctsl cathepsin L gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:10424 D RGD:2315524|PMID:19664906 20100107 RGD 2449 Ctxn1 cortexin 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1353903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 2449 Ctxn1 cortexin 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1353903 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 2449 Ctxn1 cortexin 1 gene DOID:630 genetic disease ISO RGD:1353903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2451 Cycs cytochrome c, somatic gene DOID:12858 Huntington's disease severity ISO RGD:1604618|RGD:10425 D RGD:13432083|PMID:12095160 20170920 RGD protein:altered localization:cytosol 2451 Cycs cytochrome c, somatic gene DOID:14749 methylmalonic acidemia ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 2451 Cycs cytochrome c, somatic gene DOID:1588 thrombocytopenia ISO RGD:1604618 D RGD:11352700|PMID:18345000 20160715 RGD DNA:transition mutation:exon:p.G41S(human) 2451 Cycs cytochrome c, somatic gene DOID:1588 thrombocytopenia ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18345000 2451 Cycs cytochrome c, somatic gene DOID:1588 thrombocytopenia ISO RGD:1604618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 2451 Cycs cytochrome c, somatic gene DOID:1588 thrombocytopenia no_association ISO RGD:1604618 D RGD:11352702|PMID:19172527 20160715 RGD 2451 Cycs cytochrome c, somatic gene DOID:1793 pancreatic cancer ISO RGD:1604618 D RGD:2317614|PMID:11920648 20100413 RGD 2451 Cycs cytochrome c, somatic gene DOID:2213 hemorrhagic disease ISO RGD:1604618 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 2451 Cycs cytochrome c, somatic gene DOID:224 transient cerebral ischemia ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 2451 Cycs cytochrome c, somatic gene DOID:2316 brain ischemia ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 2451 Cycs cytochrome c, somatic gene DOID:326 ischemia ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 2451 Cycs cytochrome c, somatic gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1604618 D RGD:13792769|PMID:25578497 20180926 RGD 2451 Cycs cytochrome c, somatic gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604618 D RGD:13792769|PMID:25578497 20180926 RGD protein:decreased expression:serum 2451 Cycs cytochrome c, somatic gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1604618 D RGD:13792769|PMID:25578497 20180926 RGD 2451 Cycs cytochrome c, somatic gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604618 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2451 Cycs cytochrome c, somatic gene DOID:4947 cholangiocarcinoma ISO RGD:1604618 D RGD:2317615|PMID:19788692 20100413 RGD 2451 Cycs cytochrome c, somatic gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604618 D RGD:13792769|PMID:25578497 20180926 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum 2451 Cycs cytochrome c, somatic gene DOID:9001341 Chloracne ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2451 Cycs cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:11352699|PMID:24326104 20160715 RGD DNA:mutation:cds:c.145T>C(p.Y48H)(human) 2451 Cycs cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:7240710 20140730 OMIM 2451 Cycs cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 4 PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:28492532|PMID:30051457|PMID:31064749|PMID:34355501 2451 Cycs cytochrome c, somatic gene DOID:9008726 Neoplasm Micrometastasis ISO RGD:1604618 D RGD:13792769|PMID:25578497 20180926 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum 2451 Cycs cytochrome c, somatic gene DOID:9452 fatty liver disease ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 2451 Cycs cytochrome c, somatic gene DOID:9970 obesity ISO RGD:1604618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16317704 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:70835 D RGD:1600799|PMID:8964882 20070327 RGD 11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:70835 D RGD:734864|PMID:1430088 19990101 RGD DNA:frameshift mutation:cds:p.394fsX469 (human) 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:70835 D RGD:4891170|PMID:12457455 20110111 RGD mRNA:decreased expression:adrenal gland (human) 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:10763 hypertension IAGP D RGD:69709|PMID:7981756 19990101 RGD 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:10763 hypertension IEP D RGD:4891156|PMID:19837774 20110110 RGD mRNA:decreased expression:hypothalamus, cerebellum, cortex (rat) 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:446 primary hyperaldosteronism ISO RGD:70835 D RGD:4891155|PMID:1731223 19990101 RGD DNA:gene fusion:intron:Cyp11b2 (human) 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4891147|PMID:19923365 20110110 RGD protein:decreased expression:fetus, adrenal gland (rat) 2453 Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:4145630|PMID:19349910 20101110 RGD mRNA:increased expression:cardiac muscle tissue, left ventricle (rat) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:70835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:12452430|PMID:15026188|PMID:15062555|PMID:16046588|PMID:16670167|PMID:17371482|PMID:19204079|PMID:19844114|PMID:20089618|PMID:22333028|PMID:22964742|PMID:23940125|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26467025|PMID:26476331|PMID:26806323|PMID:26956189|PMID:27316665|PMID:28492532|PMID:28514642|PMID:29626607|PMID:30223866|PMID:32203225|PMID:33275286|PMID:33785438|PMID:33830237|PMID:33864926|PMID:8506298|PMID:9302260|PMID:9546661 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736494 D RGD:4891170|PMID:12457455 20110111 RGD mRNA:increased expression:adrenal gland (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:10591 pre-eclampsia ISO RGD:736494 D RGD:1576428|PMID:15569322 19990101 RGD DNA:missense mutation:cds:p.V386A (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:10763 hypertension IEP D RGD:4891156|PMID:19837774 20110110 RGD mRNA:increased expression:brainstem, hippocampus, cortex (rat) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:10763 hypertension IMP D RGD:2307304|PMID:18495825 20090526 RGD 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:10763 hypertension ISO RGD:736494 D RGD:4891152|PMID:10024332 19990101 RGD DNA:transition:5' utr:-344C>T (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:114 heart disease IMP D RGD:2307309|PMID:15364804 20090526 RGD 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:70835 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:1472060|PMID:1731223 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:70835 D RGD:7240710 20220105 OMIM 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I PMID:10487675|PMID:11095433|PMID:11549691|PMID:12452430|PMID:12966519|PMID:15026188|PMID:15062555|PMID:15751602|PMID:15755848|PMID:15807871|PMID:16030166|PMID:16046588|PMID:16670167|PMID:16984984|PMID:17121536|PMID:17296872|PMID:17371482|PMID:17576681|PMID:17692261|PMID:17726333|PMID:18204274|PMID:19567537|PMID:19820005|PMID:19844114|PMID:20024693|PMID:20089618|PMID:2022736|PMID:22333028|PMID:22465514|PMID:22964742|PMID:23345044|PMID:24022297|PMID:24033266|PMID:24536089|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26300845|PMID:26467025|PMID:26476331|PMID:26956189|PMID:27376426|PMID:27376433|PMID:27821898|PMID:28228528|PMID:28492532|PMID:28514642|PMID:30223866|PMID:30242600|PMID:32850530|PMID:33275286|PMID:33864926|PMID:7049883|PMID:7903314|PMID:8004113|PMID:8506298|PMID:8768848|PMID:8964882|PMID:8989319|PMID:9302260|PMID:9435454|PMID:9536098|PMID:9546661 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:14219 renal tubular acidosis IEP D RGD:4891416|PMID:16495212 20110112 RGD mRNA:increased expression:adrenal gland (rat) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:446 primary hyperaldosteronism ISO RGD:70835 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:11085685 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:4621 holoprosencephaly ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:5844 myocardial infarction IMP D RGD:2307303|PMID:18689429 20090526 RGD 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:6000 congestive heart failure IEP D RGD:4891162|PMID:19571523 20110111 RGD protein:increased expression:heart (rat) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:630 genetic disease ISO RGD:70835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:820 myocarditis IEP D RGD:2307306|PMID:18154949 20090526 RGD protein:increased expression:myocardium 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9000784 Fibrosis IEP D RGD:4891377|PMID:16938653 20110112 RGD protein:increased expression:liver (rat) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9001542 Albuminuria IMP D RGD:2307307|PMID:15939810 20090526 RGD 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736494 D RGD:2307295|PMID:16672053 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4891147|PMID:19923365 20110110 RGD mRNA:increased expression:fetus, adrenal gland (rat) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9003936 Cardiomegaly IMP D RGD:2307307|PMID:15939810 20090526 RGD 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736494 D RGD:4891150|PMID:9494027 19990101 RGD DNA:transition:5' utr:-344C>T (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9004616 Left Ventricular Hypertrophy no_association ISO RGD:736494 D RGD:4891151|PMID:11275936 20110110 RGD DNA:transition:5' utr:-344C>T (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2307289|PMID:18582458 20090526 RGD mRNA:increased expression:kidney 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9005658 Hypoaldosteronism ISO RGD:736494 D RGD:1600824|PMID:1594605 20070328 RGD CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9005925 Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency ISO RGD:70835 D RGD:7240710 20220105 OMIM 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9005925 Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency ISO RGD:70835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency PMID:10487675|PMID:11095433|PMID:11549691|PMID:12452430|PMID:12966519|PMID:1430088|PMID:15026188|PMID:15062555|PMID:15324322|PMID:15751602|PMID:15755848|PMID:15807871|PMID:16030166|PMID:16046588|PMID:16670167|PMID:16984984|PMID:17121536|PMID:17296872|PMID:17371482|PMID:17692261|PMID:17726333|PMID:18663314|PMID:19204079|PMID:19820005|PMID:19844114|PMID:20024693|PMID:20089618|PMID:2022736|PMID:22465514|PMID:22964742|PMID:23345044|PMID:23940125|PMID:23940126|PMID:24022297|PMID:24033266|PMID:24334966|PMID:24536089|PMID:24987415|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26066897|PMID:26265915|PMID:26280318|PMID:26300845|PMID:26467025|PMID:26476331|PMID:26525354|PMID:26806323|PMID:26956189|PMID:27376426|PMID:27376433|PMID:27821898|PMID:28228528|PMID:28492532|PMID:28514642|PMID:28962970|PMID:29626607|PMID:30223866|PMID:32203225|PMID:3295546|PMID:33275286|PMID:33864926|PMID:7049883|PMID:7903314|PMID:8506298|PMID:8768848|PMID:8964882|PMID:8989319|PMID:9302260|PMID:9435454|PMID:9546661 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9005925 Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency ISO RGD:70835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency PMID:10487675|PMID:11095433|PMID:11549691|PMID:12452430|PMID:12966519|PMID:1430088|PMID:15026188|PMID:15062555|PMID:15324322|PMID:15751602|PMID:15755848|PMID:15807871|PMID:16030166|PMID:16046588|PMID:16199547|PMID:16670167|PMID:16984984|PMID:17121536|PMID:17296872|PMID:17371482|PMID:17576681|PMID:17692261|PMID:17726333|PMID:18204274|PMID:18663314|PMID:19204079|PMID:19820005|PMID:19844114|PMID:20024693|PMID:20089618|PMID:2022736|PMID:20529578|PMID:20947076|PMID:22333028|PMID:22465514|PMID:22964742|PMID:23345044|PMID:23940125|PMID:23940126|PMID:24022297|PMID:24033266|PMID:24334966|PMID:24536089|PMID:24987415|PMID:25525159|PMID:25741868|PMID:25911436|PMID:25913739|PMID:26053152|PMID:26066897|PMID:26265915|PMID:26280318|PMID:26300845|PMID:26467025|PMID:26476331|PMID:26525354|PMID:26806323|PMID:26956189|PMID:27376426|PMID:27376433|PMID:27821898|PMID:28228528|PMID:28492532|PMID:28514642|PMID:28962970|PMID:29626607|PMID:29858860|PMID:29909741|PMID:30223866|PMID:31006099|PMID:32203225|PMID:32561571|PMID:3295546|PMID:33275286|PMID:33864926|PMID:7049883|PMID:7903314|PMID:8004113|PMID:8506298|PMID:8768848|PMID:8964882|PMID:8989319|PMID:9302260|PMID:9435454|PMID:9536098|PMID:9546661 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736494 D RGD:2307294|PMID:17261471 20090526 RGD DNA:polymorphism:promoter:-344C>T (human) 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9007096 Stroke ISO RGD:736494 D RGD:2307308|PMID:15894891 20090526 RGD associated with Hypertension;DNA:polymorphism 2454 Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736494 D RGD:2307288|PMID:18771471 20090526 RGD DNA:polymorphism:promoter:-344C>T (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1350540 D RGD:4889141|PMID:2026124 20101129 RGD DNA:mutations:cds:multiple (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1350540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10455016|PMID:10720067|PMID:11549685|PMID:12466376|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:17379008|PMID:19636199|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:2786493|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29595516|PMID:31636948|PMID:33864926|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9892022 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:0060043 sexual health disorder ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15706422 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:10211 cholelithiasis ISO RGD:1350540 D RGD:2317619|PMID:16381022 20100413 RGD associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:10283 prostate cancer ISO RGD:1350540 D RGD:4846627|PMID:18645193 20101118 RGD 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:10824 malignant hypertension ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3142437 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:11054 urinary bladder cancer ISO RGD:1350540 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:11446 sciatic neuropathy IEP D RGD:4889112|PMID:17720801 20101124 RGD mRNA:decreased expression:spinal cord (rat) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:11476 osteoporosis ISO RGD:1350540 D RGD:1625350|PMID:17002564 20070604 RGD DNA:snps:multiple (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1350540 D RGD:4888511|PMID:11739466 20101119 RGD protein:increased activity:ovary follicle, theca cell (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:12336 male infertility ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:13938 amenorrhea ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:1612 breast cancer ISO RGD:1350540 D RGD:4889142|PMID:12631398 20101129 RGD DNA:transition:5' utr:-34T>C rs743572 (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:1612 breast cancer ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:16121340|PMID:17192295|PMID:1740503|PMID:20197673|PMID:22309630|PMID:24140098|PMID:26845730|PMID:28492532|PMID:29345162 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1350540 D RGD:2317618|PMID:19642097 20100413 RGD DNA:transition:5' utr:-34T>C rs743572 (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:1924 hypogonadism ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1350540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:1350540 D RGD:2317619|PMID:16381022 20100413 RGD DNA:transition:5' utr:-34T>C rs743572 (human) 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:5119 ovarian cyst ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350540 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9000172 17,20-Lyase Deficiency, Isolated ISO RGD:1350540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial PMID:10455016|PMID:10720067|PMID:11422109|PMID:11549685|PMID:11836339|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15713706|PMID:15771555|PMID:1577471|PMID:15811924|PMID:15844475|PMID:16121340|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:19508587|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:2335573|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26543560|PMID:26770544|PMID:26845730|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29345162|PMID:29595516|PMID:29858860|PMID:33753170|PMID:6976525|PMID:7629254|PMID:8345056|PMID:8550762|PMID:9177409|PMID:9326943|PMID:9435441|PMID:9601054|PMID:9892022 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1350540 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34426286|PMID:35764155 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9000734 Oligomenorrhea ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9001961 Hyperkalemia ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15538743|PMID:16424004|PMID:16859836|PMID:16998812|PMID:17592021 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9005968 Neuralgia ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17720801 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:7240710 20130425 OMIM 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 PMID:10720067|PMID:10877510|PMID:11243732|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:15844475|PMID:16121340|PMID:16199547|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:18422032|PMID:19470621|PMID:19508587|PMID:19636199|PMID:19728179|PMID:19793597|PMID:20170344|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26467025|PMID:26543560|PMID:26770544|PMID:26845730|PMID:26980296|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29278670|PMID:29345162|PMID:29595516|PMID:29858860|PMID:30229581|PMID:33753170|PMID:33864926|PMID:8245018|PMID:8345056|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9892022 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9007456 Female Infertility ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1350540 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19913079|PMID:34426286 2456 Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 gene DOID:9406 hypopituitarism ISO RGD:1350540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606587 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:0080011 bone resorption disease ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8265607|PMID:9177373|PMID:10566648 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:7240710 20130221 OMIM 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome PMID:10566648|PMID:12466340|PMID:14602738|PMID:14715828|PMID:1496995|PMID:16199547|PMID:16882736|PMID:17164303|PMID:17576681|PMID:1825497|PMID:20048079|PMID:20186154|PMID:23329769|PMID:25088806|PMID:25301327|PMID:25415177|PMID:25741868|PMID:26822949|PMID:27086564|PMID:27256151|PMID:27693882|PMID:28492532|PMID:2973313|PMID:30968679|PMID:8265607|PMID:8530621|PMID:9177373|PMID:9211678|PMID:9536098|PMID:9718379 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:1600861|PMID:16882736 20070328 RGD DNA:polymorphism 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:4889108|PMID:18180323 20101124 RGD mRNA:altered expression:cerebellum, hippocampus (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:10763 hypertension IEP D RGD:4761326|PMID:19228890 20101117 RGD mRNA:decreased expression:ovary (rat) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1100 ovarian disease ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11054 urinary bladder cancer ISO RGD:737520 D RGD:7257712|PMID:17406000 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20723554 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:1625350|PMID:17002564 20070604 RGD DNA:snps:multiple (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11612 polycystic ovary syndrome IEP D RGD:7257717|PMID:23598873 20130830 RGD mRNA, protein:decreased expresssion:ovary 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11612 polycystic ovary syndrome IMP D RGD:7257726|PMID:23183180 20130903 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8265607|PMID:9177373|PMID:21262361|PMID:22381227 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:1606587 D RGD:7257710|PMID:21282199 20130830 RGD DNA:missense mutation:cds:p.A264C (rs700519) (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11714 gestational diabetes ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:11801 protein-energy malnutrition IEP D RGD:4890381|PMID:20018485 20101215 RGD mRNA:decreased expression:ovary (rat) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:12577 urethral obstruction ISO RGD:1606587 D RGD:7257713|PMID:12050560 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:12849 autistic disorder ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21359227 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:12894 Sjogren's syndrome ISS RGD:737520 D RGD:13592920 20180518 MouseDO OMIM:270150 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1380 endometrial cancer ISO RGD:1606587 D RGD:2301045|PMID:18497059 20080923 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:13938 amenorrhea ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:13948 bladder neck obstruction ISO RGD:1606587 D RGD:7257709|PMID:21356374 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1459 hypothyroidism IEP D RGD:4890368|PMID:20149258 20101215 RGD mRNA:increased expression:ovary (rat) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:14654 prostatitis ISO RGD:1606587 D RGD:7257711|PMID:19700748 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1612 breast cancer ISO RGD:1606587 D RGD:2301046|PMID:16875543 20080924 RGD DNA:repeat::(TTTA)10 (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:7257707|PMID:23643682 20130830 RGD DNA:SNP:cds:rs700518 (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:7257716|PMID:7053713 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:1924 hypogonadism ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9177373 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:2394 ovarian cancer ISO RGD:1606587 D RGD:2301045|PMID:18497059 20080923 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:2717 Bloom syndrome ISO RGD:1606587 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:289 endometriosis IMP D RGD:7257718|PMID:23406865 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:289 endometriosis ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21958689 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:289 endometriosis ISO RGD:1606587 D RGD:7257715|PMID:8550748 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:299 adenocarcinoma ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:3891 placental insufficiency IEP D RGD:4890445|PMID:20662593 20101220 RGD mRNA, protein:altered expression:hippocampus (rat) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1606587 D RGD:126925218|PMID:21472143 20210517 RGD DNA:SNP:5'utr: (rs2445762) (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606587 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20048079|PMID:25741868 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:607 paraplegia ISO RGD:1606587 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606587 D RGD:7257711|PMID:19700748 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606587 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34426286 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9000784 Fibrosis ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22028442 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606587 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9001604 Sexual Infantilism ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9001827 Critical Illness ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16670151 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9002165 Diabetic Nephropathies treatment IMP D RGD:7257708|PMID:22301628 20130830 RGD associated with Diabetes Mellitus, Experimental 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16424004|PMID:17704407 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:10045662|PMID:20417295 20150615 RGD DNA:SNP:intron, 5' utr: (rs1062033) (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9002801 Recurrence ISO RGD:1606587 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1606587 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:25741868 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4890041|PMID:21114983 20101214 RGD protein:increased expression:hippocampus (rat) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606587 D RGD:1600860|PMID:17118999 20070328 RGD DNA:snps:exon:multiple (human) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4890359|PMID:20428845 20101215 RGD protein:decreased expression:ovary, testis (rat) 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:7244372|PMID:23552495 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9007456 Female Infertility ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14684609 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9008113 Tissue Adhesions treatment IMP D RGD:7257719|PMID:23395555 20130830 RGD 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606587 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:19639193|PMID:23342035|PMID:28112739|PMID:29701941|PMID:34426286 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:1606587 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9406 hypopituitarism ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 2457 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 gene DOID:9452 fatty liver disease ISO RGD:1606587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11929713 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:0050083 Keshan disease ISO RGD:730870 D RGD:124713562|PMID:26893848 20210323 RGD mRNA,protein:increased expression:blood cells, serum: 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730870 D RGD:14700952|PMID:22660220 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:730870 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:0060180 colitis ISO RGD:10436 D RGD:5147670|PMID:21374063 20110817 RGD mRNA:increased expression:large intestine epithelium 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:0080855 Parkinsonism ISO RGD:10436 D RGD:5147675|PMID:18374908 20110817 RGD mRNA:decreased expression:striatum 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10283 prostate cancer ISO RGD:730870 D RGD:14700953|PMID:12949934 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10534 stomach cancer ISO RGD:730870 D RGD:14700945|PMID:16270381 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10763 hypertension ISO RGD:10436 D RGD:7257731|PMID:20634294 20130903 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10763 hypertension ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20634294|PMID:22995157 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10892 hypospadias ISO RGD:730870 D RGD:11576312|PMID:15579657 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10892 hypospadias no_association ISO RGD:730870 D RGD:11576313|PMID:21300689 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:10952 nephritis ISO RGD:10436 D RGD:7175305|PMID:21907489 20130903 RGD mRNA, protein:increased expression:kidney 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:7257730|PMID:21990318 20130903 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:7257733|PMID:18979064 20130903 RGD DNA:polymorphism: :2455A>G (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:730870 D RGD:7257736|PMID:18200441 20130903 RGD DNA:polymorphisms: :3801T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:114 heart disease IEP D RGD:7296941|PMID:23391631 20130905 RGD mRNA, protein:increased expression:heart 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:730870 D RGD:11576309|PMID:18339256 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11836 clubfoot ISO RGD:730870 D RGD:11576307|PMID:21254355 20170106 RGD DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:14700957|PMID:20846153 20190829 RGD DNA:hypermethylation 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:14700978|PMID:16721740 20190830 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1205 allergic disease ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:12336 male infertility ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19303595 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:12361 Graves' disease ISO RGD:730870 D RGD:5147671|PMID:19903800 20110817 RGD associated with Herpesviridae Infections 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:12894 Sjogren's syndrome ISO RGD:730870 D RGD:5147747|PMID:12590982 20110818 RGD associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730870 D RGD:124713562|PMID:26893848 20210323 RGD mRNA,protein:increased expression:blood cells, serum: 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1324 lung cancer ISO RGD:730870 D RGD:4892075|PMID:16696009 20110201 RGD associated with Pulmonary Emphysema;DNA:polymorphism: :p.I462V (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:13241 Behcet's disease ISO RGD:730870 D RGD:8552789|PMID:15088300 20140429 RGD DNA:SNPs: :4889A>G, 4887C>A (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1380 endometrial cancer ISO RGD:730870 D RGD:2301040|PMID:18318428 20080923 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:5147678|PMID:11793160 20110817 RGD DNA:missense mutation:cds:p.I462V (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:5147679|PMID:11484167 20110817 RGD DNA:polymorphisms (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:730870 D RGD:5147681|PMID:8872868 20110817 RGD DNA:missense mutation:cds:p.I462V (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1485 cystic fibrosis severity ISO RGD:730870 D RGD:4889126|PMID:14593914 20110201 RGD DNA:polymorphism (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:2301045|PMID:18497059 20080923 RGD DNA:SNP::rs4646903 (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:8552792|PMID:21418988 20140429 RGD DNA:SNP:3' utr:6235T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:8552794|PMID:17603290 20140429 RGD DNA:SNP: :p.I462V (rs1048943) (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:8552799|PMID:12496044 20140429 RGD DNA:transitions:exon, 3' utr:4889A>G, 6235T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:8552810|PMID:9426059 20140429 RGD DNA:polymorphisms: :multiple 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:2717 Bloom syndrome ISO RGD:730870 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:2773 contact dermatitis ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:2841 asthma ISO RGD:10436 D RGD:4892074|PMID:12415424 20110201 RGD mRNA, protein:increased expression, decreased activity:lung 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:2843 long QT syndrome ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:289 endometriosis ISO RGD:730870 D RGD:5147674|PMID:18849443 20110817 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3021 acute kidney failure treatment ISO RGD:10436 D RGD:7257732|PMID:19890363 20130903 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3021 acute kidney failure treatment ISO RGD:10436 D RGD:7257735|PMID:18495746 20130903 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3042 allergic contact dermatitis ISO RGD:730870 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:19022366 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730870 D RGD:4892071|PMID:18389617 20110201 RGD DNA:polymorphisms: :2455A>G, 3801T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730870 D RGD:4892045|PMID:19507017 20110128 RGD DNA:polymorphism (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730870 D RGD:4293707|PMID:20080081 20110128 RGD DNA:polymorphisms: :p.I462V, 3801T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:2317211|PMID:18990008 20100319 RGD DNA:polymorphism: :p.I462V (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:2317212|PMID:18287863 20100319 RGD DNA:transition: :6235T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3132 porphyria cutanea tarda ISO RGD:730870 D RGD:11576310|PMID:14714565 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3310 atopic dermatitis ISO RGD:730870 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:341 peripheral vascular disease ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730870 D RGD:14700943|PMID:11860825 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:4450 renal cell carcinoma IEP D RGD:7296938|PMID:11115552 20140505 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:7257729|PMID:22296350 20130903 RGD DNA:polymorphism: :p.I462V (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:7296939|PMID:9631944 20130905 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:730870 D RGD:7296937|PMID:22000673 20130905 RGD DNA:SNPs: :6235T>C, 4889A>G, 4887C>A (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:4607 biliary tract cancer ISO RGD:730870 D RGD:2317210|PMID:19168589 20100319 RGD DNA:polymorphism:exon:rs2606345 (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:5041 esophageal cancer ISO RGD:730870 D RGD:11554919|PMID:26782562 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:5041 esophageal cancer ISO RGD:730870 D RGD:14700950|PMID:11833070 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:5419 schizophrenia ISO RGD:730870 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:552 pneumonia susceptibility ISO RGD:730870 D RGD:4142512|PMID:15928955 20110201 RGD DNA:polymorphism (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:6132 bronchitis ISO RGD:730870 D RGD:4889126|PMID:14593914 20110201 RGD DNA:polymorphism (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:6196 reactive arthritis ISO RGD:730870 D RGD:1581251|PMID:14687717 19990101 RGD DNA:polymorphism: :4887C>A (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:730870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:6432 pulmonary hypertension IEP D RGD:13702097|PMID:28956952 20180717 RGD mRNA,protein:increased expression:lung 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:7147 ankylosing spondylitis ISO RGD:730870 D RGD:1581252|PMID:12880680 19990101 RGD DNA:polymorphism: :4887C>A (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:783 end stage renal disease IEP D RGD:7296923|PMID:12039987 20130904 RGD mRNA, protein:decreased expression:intestine 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:783 end stage renal disease ISO RGD:730870 D RGD:7257728|PMID:23619522 20130903 RGD DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:824 periodontitis ISO RGD:730870 D RGD:14700983|PMID:15491310 20190830 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730870 D RGD:11352729|PMID:26464823 20160718 RGD DNA:polymorphism:cds:4889A>G(p.I462V)(human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:8618 oral cavity cancer ISO RGD:730870 D RGD:14700965|PMID:17461521 20190829 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:8893 psoriasis susceptibility ISO RGD:730870 D RGD:5147677|PMID:12713578 20110817 RGD DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9000310 Lung Injury ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24893714|PMID:25703676 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9000363 Hematuria ISO RGD:730870 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:29027484 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:7296954|PMID:22687991 20130905 RGD mRNA:increased expression:liver 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:2314952|PMID:19595018 20110817 RGD mRNA:decreased expression:lung 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:11576311|PMID:18442069 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2306659|PMID:16225763 20170106 RGD mRNA:increased expression:placenta 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730870 D RGD:11576317|PMID:17706398 20170109 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15003126 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:17919073 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002564 Arteritis ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9002992 Nematode Infections IEP D RGD:2306675|PMID:12621079 20090430 RGD protein:increased expression:liver (rat) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366|PMID:26593447 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9003936 Cardiomegaly ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9003996 Birth Weight ISO RGD:730870 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10436 D RGD:11576306|PMID:24893714 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004237 Hyperoxic Lung Injury treatment IDA D RGD:4892072|PMID:15958656 20110201 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10436 D RGD:11576318|PMID:21745492 20170109 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004351 Digestive System Neoplasms ISO RGD:730870 D RGD:2317210|PMID:19168589 20100319 RGD DNA:polymorphism:exon:rs1048943 (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004484 Sepsis IEP D RGD:5147745|PMID:15665729 20110818 RGD mRNA, protein:decreased expression:liver 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004610 Acute Lung Injury IEP D RGD:5147744|PMID:16882535 20110818 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004610 Acute Lung Injury ISO RGD:10436 D RGD:5135235|PMID:18367723 20110818 RGD mRNA:increased expression:lung 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9004898 Jaundice IEP D RGD:11576308|PMID:8502229 20170106 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9005236 Drug Eruptions ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9005369 Hepatomegaly ISO RGD:730870 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9005372 Inflammation IEP D RGD:5147676|PMID:16006567 20110817 RGD 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9005463 Occupational Diseases ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2307074|PMID:10711628 20090518 RGD protein:increased expression:liver, microsome (rat) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9006638 Sinus Tachycardia ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23138419 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007001 Bradycardia ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007253 Hamartoma ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21998131 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730870 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007480 Hyperoxia IEP D RGD:2307076|PMID:8267628 20090518 RGD mRNA, protein:increased expression:liver, lung (rat) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007480 Hyperoxia ISO RGD:10436 D RGD:4892073|PMID:15123765 20110201 RGD mRNA, protein:increased expression:liver, lung 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007480 Hyperoxia ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24893714 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:730870 D RGD:4142512|PMID:15928955 20110201 RGD DNA:polymorphism (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:730870 D RGD:5147746|PMID:15124938 20110818 RGD DNA:polymorphisms: :4887C>A, 4889A>G (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730870 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16792888 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:1581249|PMID:14611903 20130904 RGD DNA:SNP: :4887C>A (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:5147680|PMID:10599336 20110817 RGD DNA:SNP: :p.I462V (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:730870 D RGD:5147672|PMID:19561157 20110817 RGD DNA:polymorphism:3' utr:3801T>C (rs4646903) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9119 acute myeloid leukemia ISO RGD:730870 D RGD:10769358|PMID:19456854 20160210 RGD DNA:SNP: :6235T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730870 D RGD:11352736|PMID:15996939 20160718 RGD DNA:polymorphism: :6235T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:730870 D RGD:10769358|PMID:19456854 20160210 RGD DNA:SNP: :4889A>G (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:730870 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9351 diabetes mellitus ISO RGD:730870 D RGD:2307073|PMID:11996959 20090520 RGD associated with Smoking Inhalation Injury; DNA:polymorphism:3' UTR:5639T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730870 D RGD:2307073|PMID:11996959 20090520 RGD DNA:polymorphism:3' UTR:5639T>C (human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:730870 D RGD:11352726|PMID:18285692 20160718 RGD DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:730870 D RGD:11352728|PMID:16676594 20160718 RGD DNA:polymorphism:3'UTR:3801T>C(human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:11352714|PMID:22964275 20160715 RGD DNA:polymorphism:3"UTR:rs4646903(human) 2458 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:11352725|PMID:23725389 20160718 RGD DNA:polymorphism:cds:2452C>A(p.T461N)(human) 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735711 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:0080074 neural tube defect ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20641098 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735711 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:10783 methemoglobinemia ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12030840 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:13580 cholestasis ISO RGD:735711 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:1380 endometrial cancer ISO RGD:735711 D RGD:2301045|PMID:18497059 20080923 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:1596 depressive disorder IEP D RGD:4892242|PMID:20595028 20110817 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:1612 breast cancer ISO RGD:735711 D RGD:2301045|PMID:18497059 20080923 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:1749 squamous cell carcinoma ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:2529 splenic disease ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:2717 Bloom syndrome ISO RGD:735711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10438 D RGD:7257727|PMID:23981375 20130903 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10438 D RGD:7257735|PMID:18495746 20130903 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20797314 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735711 D RGD:4293707|PMID:20080081 20110128 RGD DNA:polymorphisms: :-3860G>A (human) 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11153915 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:11576316|PMID:20957336 20170109 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:409 liver disease ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12969438 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:5082 liver cirrhosis ISO RGD:735711 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:5419 schizophrenia ISO RGD:735711 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:630 genetic disease ISO RGD:735711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:684 hepatocellular carcinoma ISO RGD:735711 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9000310 Lung Injury ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25703676 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9001312 Tardive Dyskinesia treatment ISO RGD:735711 D RGD:1358545|PMID:10889552 19990101 RGD associated with schizophrenia 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11376689|PMID:21147764 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9002720 Splenomegaly ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9004462 Atrophy ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9004484 Sepsis IEP D RGD:2303376|PMID:18360687 20090209 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9004484 Sepsis IEP D RGD:5147745|PMID:15665729 20120322 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9004898 Jaundice IEP D RGD:11576308|PMID:8502229 20170106 RGD 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9004898 Jaundice IEP D RGD:2303375|PMID:18442205 20090209 RGD mRNA:decreased expression:liver 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9005369 Hepatomegaly ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9006257 Growth Disorders ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735711 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9007703 Phenacetin O-Deethylase, Deficiency of ISO RGD:12053109 D RGD:9068941 20230511 OMIA Metabolizer of a cognitive enhancer PMID:14744947|PMID:15564884|PMID:15742977|PMID:16473917|PMID:16882764|PMID:37144920 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9008691 Liver Injury IEP D RGD:11576319|PMID:26590097 20170109 RGD mRNA:decreased expression:liver 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9256 colorectal cancer ISO RGD:735711 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 2459 Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735711 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0050593 primary congenital glaucoma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:10227395|PMID:10655546|PMID:11184479|PMID:11403040|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16384942|PMID:16735994|PMID:17224759|PMID:17363580|PMID:17563717|PMID:17591938|PMID:18227148|PMID:18414103|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:20151268|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21306220|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22942166|PMID:23218183|PMID:23218701|PMID:24033266|PMID:24227805|PMID:24940937|PMID:25109919|PMID:25261878|PMID:25741868|PMID:25978063|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27820421|PMID:28492532|PMID:30662834|PMID:31024815|PMID:32830442|PMID:32832252|PMID:32860008|PMID:9463332|PMID:94927261|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736765 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:12036985|PMID:15342693|PMID:15475877|PMID:17591938|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19179758|PMID:19234632|PMID:19643970|PMID:22004014|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25741868|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28192799|PMID:28448622|PMID:28492532|PMID:30520782|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0060673 Peters anomaly ISO RGD:736765 D RGD:7800682|PMID:15621878 20140115 RGD DNA:snp:cds:p.G61E (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0060673 Peters anomaly ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:7240710 20190315 OMIM 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22878448|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0080690 RASopathy ISO RGD:736765 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10655546|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25978063|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30653986|PMID:30788381|PMID:32510024 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:10603 glucose intolerance ISO RGD:736765 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27036855 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1068 juvenile glaucoma ISO RGD:736765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:10227395|PMID:15342693|PMID:16735994|PMID:18227148|PMID:18414103|PMID:18537981|PMID:21081970|PMID:21600657|PMID:21854771|PMID:23218183|PMID:23218701|PMID:24033266|PMID:25109919|PMID:25741868|PMID:27243976|PMID:27272408|PMID:27820421|PMID:28492532|PMID:32832252|PMID:94927261|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1070 primary open angle glaucoma ISO RGD:736765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10655546|PMID:15342693|PMID:18470941|PMID:19234632|PMID:22004014|PMID:24281366|PMID:25741868|PMID:26550445|PMID:27508083|PMID:27777502|PMID:28492532|PMID:30520782 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1070 primary open angle glaucoma severity ISO RGD:736765 D RGD:7800664|PMID:16319821 20140115 RGD DNA:snp:cds:p.N453S (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:7800658|PMID:18483560 20140115 RGD DNA:snp:cds:p.L432V (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:7800695|PMID:17563717 20140116 RGD DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:7800696|PMID:18055790 20140116 RGD DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11054 urinary bladder cancer ISO RGD:736765 D RGD:7257730|PMID:21990318 20130903 RGD 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:10439 D RGD:734869|PMID:12624268 20140115 RGD 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7240710 20130221 OMIM 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7800688|PMID:19593207 20140116 RGD DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7800707|PMID:12567107 20140116 RGD DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7800711|PMID:19247456 20140116 RGD DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7800719|PMID:16490498 20140116 RGD DNA:missense mutation:cds:p.A388T (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11184479|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:14507861|PMID:14635112|PMID:15037581|PMID:15255109|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17164573|PMID:17363580|PMID:17563717|PMID:17576681|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:19807744|PMID:20057908|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25261878|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:2782041|PMID:27820421|PMID:28192799|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:28644236|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30662834|PMID:30788381|PMID:31024815|PMID:31251480|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32860008|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261|PMID:9536098 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:7800657|PMID:23922489 20140115 RGD DNA:polymorphisms:multiple (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:7800670|PMID:10227395 20140115 RGD DNA:snp:cds:p.E387K (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:7800680|PMID:20664688 20140115 RGD DNA:deletion, snp:exons:g.4339delG, p.G61E (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:7800689|PMID:19597567 20140116 RGD DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:11212 hydrophthalmos ISO RGD:736765 D RGD:1599716|PMID:9097971 20070213 RGD DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:12270 coloboma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:10655546|PMID:11558822|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:21854771|PMID:22004014|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30520782|PMID:30653986|PMID:30788381|PMID:32510024|PMID:9097971|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736765 D RGD:7829734|PMID:10739169 20140123 RGD DNA:snp:cds:p.A119S (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:1909 melanoma ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:2773 contact dermatitis ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:3458 breast adenocarcinoma IEP D RGD:7829735|PMID:11097088 20140123 RGD mRNA:increased expression:mammary epithelium (rat) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma IEP D RGD:7829715|PMID:18618592 20140122 RGD protein:increased expression:esophagus (rat) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:3883 Lynch syndrome ISO RGD:736765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736765 D RGD:7829734|PMID:10739169 20140123 RGD Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human) 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736765 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:5844 myocardial infarction ameliorates IMP D RGD:242905187|PMID:33389498 20230327 RGD 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:630 genetic disease ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:657 adenoma ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17704407 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17372243 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9003936 Cardiomegaly ISO RGD:10439 D RGD:7829714|PMID:20805442 20140122 RGD associated with Hypertension 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9003936 Cardiomegaly ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9003936 Cardiomegaly treatment IDA D RGD:7829714|PMID:20805442 20140122 RGD associated with Hypertension 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9005369 Hepatomegaly ISO RGD:736765 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27036855 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:736765 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma type 3B PMID:10227395|PMID:10426814|PMID:10739169|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19234632|PMID:19247456|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736765 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20878130 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17297925 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9452 fatty liver disease ISO RGD:736765 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27036855 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736765 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 2460 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 gene DOID:9970 obesity ISO RGD:736765 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27036855 2461 Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1346271 D RGD:4889127|PMID:12930931 20101129 RGD DNA:mutations:cds:multiple (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:0050860 colorectal adenoma severity ISO RGD:1606586 D RGD:11521055|PMID:26241700 20220227 RGD DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:0050860 colorectal adenoma treatment ISO RGD:1606586 D RGD:152025254|PMID:27978548 20220502 RGD DNA:SNP:CDS: (rs2296241) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606586 D RGD:151665179|PMID:28009432 20220315 RGD DNA:SNPs:enhancers: (rs6013897, rs158552, rs17217119) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:151665337|PMID:22612324 20220322 RGD DNA:SNP:exon: (rs2296241) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606586 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:737342 D RGD:151708740|PMID:22982628 20220418 RGD 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:1074 kidney failure ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8164439 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:11476 osteoporosis ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:12678 hypercalcemia ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:1324 lung cancer ISO RGD:1606586 D RGD:151361183|PMID:16180015 20220227 RGD mRNA:increased expression:lung (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1606586 D RGD:151665340|PMID:31264381 20220322 RGD DNA:SNP:intron: (rs2765934) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:1606586 D RGD:151665338|PMID:31740231 20220322 RGD DNA:SNP:intron: (rs6022999) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:219 colon cancer ISO RGD:1606586 D RGD:151361183|PMID:16180015 20220227 RGD mRNA:increased expression:colon (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:151665174|PMID:19706847 20220315 RGD DNA:SNP:intron: IVS4-66T>G, (rs4809958) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:151665177|PMID:28811712 20220315 RGD DNA:SNPs:multiple (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:151665338|PMID:31740231 20220322 RGD DNA:SNPs:introns: (rs4809960, rs6022999) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:151665173|PMID:27793774 20220315 RGD mRNA:increased expression:colonic mucosa (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3459 breast carcinoma ISO RGD:1606586 D RGD:151361183|PMID:16180015 20220227 RGD mRNA:decreased expression:breast (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3713 ovary adenocarcinoma ISO RGD:1606586 D RGD:151361183|PMID:16180015 20220227 RGD mRNA:increased expression:ovary (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:151665500|PMID:28362172 20220328 RGD DNA:SNP:CDS: (rs2296241) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3905 lung carcinoma susceptibility ISO RGD:1606586 D RGD:151665791|PMID:22797725 20220404 RGD DNA:SNP:3' utr: (rs4809957) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606586 D RGD:151708738|PMID:17671213 20220418 RGD RNA:increased expression:lung (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1606586 D RGD:151361182|PMID:23435876 20220227 RGD DNA:SNP:intron 4: (rs3787554) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1606586 D RGD:151361179|PMID:29250167 20220227 RGD mRNA:increased expression:lung (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1606586 D RGD:151361185|PMID:21169243 20220227 RGD mRNA:increased expression:lung (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:151665175|PMID:27669215 20220315 RGD DNA:SNP:exon, intron: (rs6068816, rs2181874) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:151665789|PMID:25544771 20220404 RGD DNA:SNPs:CDS, 3' utr: (rs6068816, rs4809957) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:151708739|PMID:29726119 20220418 RGD DNA:SNPs:multiple (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606586 D RGD:151361181|PMID:24736069 20220227 RGD DNA:hypomethylation:promoter (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:151665173|PMID:27793774 20220315 RGD human cell line in a mouse model 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:151665499|PMID:25519225 20220328 RGD mRNA:decreased expression:lung (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:1606586 D RGD:151665176|PMID:30187205 20220315 RGD mRNA:increased expression:esophagus (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) PMID:23375797|REF_RGD_ID:151361187 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:5041 esophageal cancer ameliorates ISO RGD:1606586 D RGD:152025255|PMID:14760115 20220502 RGD RNA:decreased expression:esophagus (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606586 D RGD:151665340|PMID:31264381 20220322 RGD DNA:SNP:CDS: (rs6068816) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:585 nephrolithiasis ISO RGD:1606586 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1606586 D RGD:151665177|PMID:28811712 20220315 RGD DNA:SNPs:multiple (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9001738 Hypercalciuria ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9004271 Colonic Polyps susceptibility ISO RGD:1606586 D RGD:151665177|PMID:28811712 20220315 RGD DNA:SNPs:multiple (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9004831 Colitis-Associated Neoplasms treatment ISO RGD:737342 D RGD:151665341|PMID:31877961 20220322 RGD 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22797725 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:1606586 D RGD:11554173 20180710 CTD CTD Direct Evidence: marker/mechanism 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:1606586 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Infantile hypercalcemia 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9006743 Spasm ISO RGD:1606586 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:27394135|PMID:27798933|PMID:28470390|PMID:28492532|PMID:3490596 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:7240710 20180704 OMIM 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 PMID:19961857|PMID:21675912|PMID:22047571|PMID:22100522|PMID:22112808|PMID:23001465|PMID:23293122|PMID:23423976|PMID:23470222|PMID:23485543|PMID:24033266|PMID:24518185|PMID:25194629|PMID:25375986|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26214117|PMID:26846157|PMID:27394135|PMID:27798933|PMID:28109821|PMID:28470390|PMID:28492532|PMID:32375123|PMID:33952337|PMID:3490596 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16280049 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:11526316|PMID:26997443 20220322 RGD mRNA:increased expression:colorectum (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:151361180|PMID:23463632 20220227 RGD mRNA:increased expression:colorectal mucosa (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:151665178|PMID:24213465 20220315 RGD mRNA:increased expression:colorectal mucosa (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:151665496|PMID:32803502 20220328 RGD circRNA:increased expression:colorectum (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606586 D RGD:151665788|PMID:26260259 20220404 RGD mRNA:increased expression:colon (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer severity ISO RGD:1606586 D RGD:151665339|PMID:28821819 20220322 RGD DNA:SNP:intron: (rs2765934) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1606586 D RGD:151361186|PMID:20398751 20220227 RGD mRNA:splice variants:colorectal mucosa (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:151665172|PMID:31802707 20220315 RGD DNA:SNP:intron: (rs4809960) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:151665501|PMID:24562971 20220328 RGD DNA:missense mutation:CDS: (rs6022990) (human) 2462 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:151708714|PMID:33504116 20220418 RGD DNA:SNP:enhancer: (rs6013897) (human) 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352512 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:2340 craniosynostosis ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1352512 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:18669584 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1352512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352512 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:26084420 2463 Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 gene DOID:9269 maple syrup urine disease ISO RGD:1352512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2464 Cyp2a2 cytochrome P450, family 2, subfamily a, polypeptide 2 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353273 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:0080665 warfarin resistance ISO RGD:1353273 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:12325023 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:0080666 warfarin sensitivity ISO RGD:1353273 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:12325023 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:2340 craniosynostosis ISO RGD:1353273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:3883 Lynch syndrome ISO RGD:1353273 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:28306719 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:630 genetic disease ISO RGD:1353273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1353273 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:12325023 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1624100 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2465 Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 gene DOID:9269 maple syrup urine disease ISO RGD:1353273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:13580 cholestasis ISO RGD:1558311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:1596 depressive disorder IEP D RGD:4892242|PMID:20595028 20120322 RGD 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:1793 pancreatic cancer EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: therapeutic PMID:10026857|PMID:10326030|PMID:10415878|PMID:11332152|PMID:11377651|PMID:12042985|PMID:12649565|PMID:12698877 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:1883 hepatitis C EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:8864187 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:3070 high grade glioma EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: therapeutic PMID:7834628 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9004484 Sepsis IEP D RGD:5147745|PMID:15665729 20120322 RGD 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9004610 Acute Lung Injury IEP D RGD:5147744|PMID:16882535 20120322 RGD 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9005369 Hepatomegaly EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9005372 Inflammation EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21467745 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2301459|PMID:17015271 20081016 RGD protein:increased expression:liver 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9005749 Necrosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:11332993 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9008939 Breast Neoplasms EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: therapeutic PMID:8640822|PMID:10811482 2466 Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 gene DOID:9970 obesity IEP D RGD:2301455|PMID:18589557 20081015 RGD protein:decreased expression:liver 2467 Cyp2b2 cytochrome P450, family 2, subfamily b, polypeptide 2 gene DOID:9005372 Inflammation EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21467745 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0050700 cardiomyopathy ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:16580879 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0060500 drug allergy ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:19899329|PMID:20210733|PMID:20386359 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:7240710 20230505 OMIM 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0080665 warfarin resistance ISO RGD:1317784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0080666 warfarin sensitivity ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:0080666 warfarin sensitivity ISO RGD:1317784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:1063 interstitial nephritis ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:10763 hypertension IEP D RGD:6903915|PMID:18829737 20121008 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:10763 hypertension ISO RGD:1317784 D RGD:6903909|PMID:19669737 20121008 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:11054 urinary bladder cancer ISO RGD:1317784 D RGD:6903918|PMID:16985032 20121008 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:1596 depressive disorder IEP D RGD:4892242|PMID:20595028 20120322 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:3021 acute kidney failure ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1317784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:4195 hyperglycemia ISO RGD:1317784 D RGD:9068941 20230504 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; Diabetic Nephropathies; DNA:polymorphisms:polymorphisms:cds:R144C, I359L (human) PMID:17597710|REF_RGD_ID:2307149 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:630 genetic disease ISO RGD:1317784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:783 end stage renal disease IEP D RGD:6903939|PMID:11158222 20121008 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:783 end stage renal disease IEP D RGD:6903940|PMID:8531418 20121008 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:863 nervous system disease ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1317784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10073515|PMID:10208645|PMID:11588061|PMID:12698304|PMID:15608560|PMID:15714076|PMID:15805193|PMID:16198655|PMID:16611750|PMID:17112811|PMID:17681167|PMID:19422321|PMID:20555338|PMID:25099164|PMID:25712887|PMID:25775139|PMID:28740425|PMID:30742399|PMID:30742400|PMID:30742401|PMID:32779747|PMID:8873220|PMID:9352571 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9002661 Diabetes Complications ISO RGD:1317784 D RGD:2307154|PMID:15963101 20121008 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9003936 Cardiomegaly EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:17681167 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:11740344|PMID:19925388|PMID:23104259 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:14971821|PMID:21741958|PMID:28762043|PMID:33814510 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9007502 Brain Neoplasms ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:16475710 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9008217 Hemorrhage ISO RGD:1317784 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:18429757|PMID:18756910|PMID:20597268|PMID:25521356|PMID:27581200 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9008550 Vitamin A Deficiency treatment IEP D RGD:13782260|PMID:11724755 20180829 RGD 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9351 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20230504 RGD DNA:polymorphism:multiple (human) PMID:16788382|REF_RGD_ID:2307151 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9351 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20230504 RGD associated with Thromboembolism; DNA:polymorphism:cds:R144C, I359L (human) PMID:16303885|REF_RGD_ID:2307153 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317784 D RGD:9068941 20230504 RGD DNA:polymorphism:cds:I359L (human) PMID:16325295|REF_RGD_ID:2307152 2469 Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 gene DOID:9993 hypoglycemia ISO RGD:1317784 D RGD:9068941 20230504 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) PMID:15963101|REF_RGD_ID:2307154 2472 Cyp2d3 cytochrome P450, family 2, subfamily d, polypeptide 3 gene DOID:2048 autoimmune hepatitis ISO RGD:736217 D RGD:7207226|PMID:3186722 20130125 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1345007 D RGD:14700880|PMID:22954124 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0050868 hepatocellular adenoma treatment IEP D RGD:14700918|PMID:23543859 20190827 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1345007 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10451 D RGD:11573192|PMID:26703967 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:14700871|PMID:25317811 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10451 D RGD:14700881|PMID:28458161 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:10320 asbestosis ISO RGD:1345007 D RGD:4892076|PMID:20514434 20110201 RGD mRNA:decreased expression:leukocyte 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345007 D RGD:14700909|PMID:22957075 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:14700877|PMID:23002367 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:11981 morbid obesity ISO RGD:1345007 D RGD:1626305|PMID:12883487 20070731 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:12689 acoustic neuroma ISO RGD:1345007 D RGD:1358568|PMID:12540498 19990101 RGD DNA:snp:promoter:c.-1053C>T (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:13938 amenorrhea ISO RGD:1345007 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:14700873|PMID:29404441 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:14330 Parkinson's disease ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1574 alcohol use disorder IEP D RGD:14700915|PMID:23819932 20190827 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1574 alcohol use disorder ISO RGD:10451 D RGD:14700911|PMID:29404485 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:14700911|PMID:29404485 20190826 RGD protein:increased expression:plasma, extracellular exosome 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1596 depressive disorder IEP D RGD:4892242|PMID:20595028 20110215 RGD protein:increased expression:liver 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:10451 D RGD:14700873|PMID:29404441 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:2044 drug-induced hepatitis IDA D RGD:14700910|PMID:23619520 20190826 RGD DNA:hypermethylation:promoter 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:219 colon cancer treatment IEP D RGD:14700924|PMID:30720227 20190827 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:2841 asthma ISO RGD:10451 D RGD:4892220|PMID:17081494 20110211 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:4892076|PMID:20514434 20110201 RGD mRNA:decreased expression:leukocyte 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:299 adenocarcinoma ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:3021 acute kidney failure treatment IEP D RGD:14700914|PMID:24717297 20190827 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:3021 acute kidney failure treatment IEP D RGD:14700920|PMID:24412858 20190827 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:3070 high grade glioma ISO RGD:1345007 D RGD:1358568|PMID:12540498 19990101 RGD DNA:snp:promoter:c.-1053C>T (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345007 D RGD:4892219|PMID:17442289 20110211 RGD DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:14700877|PMID:23002367 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:409 liver disease IEP D RGD:14700877|PMID:23002367 20190822 RGD associated with familial hyperlipidemia and middle cerebral artery infarction 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:409 liver disease IEP D RGD:4892217|PMID:19352025 20110211 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:409 liver disease ISO RGD:1345007 D RGD:4892216|PMID:20392357 20110211 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:409 liver disease no_association ISO RGD:1345007 D RGD:4892218|PMID:17950035 20110211 RGD DNA:polymorphism, repeat:5' utr (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:409 liver disease treatment IEP D RGD:14700913|PMID:21425780 20190827 RGD associated with Diabetes Mellitus, Experimental 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:552 pneumonia ISO RGD:10451 D RGD:4892223|PMID:14698565 20110211 RGD protein:increased expression:alveolus, epithelial cell 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:552 pneumonia ISO RGD:1345007 D RGD:4142512|PMID:15928955 20110211 RGD DNA:polymorphism (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1345007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15162526 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:14700882|PMID:20364586 20190822 RGD associated with alcohol dependence 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:14700899|PMID:29765251 20190826 RGD DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345007 D RGD:4892076|PMID:20514434 20110201 RGD mRNA:decreased expression:leukocyte 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:850 lung disease ISO RGD:10451 D RGD:4892222|PMID:8667236 20110211 RGD Lung Injury 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:8618 oral cavity cancer ISO RGD:1345007 D RGD:14700978|PMID:16721740 20190830 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10451|RGD:1345007 D RGD:14700887|PMID:29401608 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9001285 Alcoholic Liver Diseases treatment IEP D RGD:14700906|PMID:30192013 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:10451 D RGD:14700893|PMID:29902864 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:10451 D RGD:14700894|PMID:25592162 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056438 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12771559 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9003936 Cardiomegaly ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4892235|PMID:21094789 20110215 RGD protein:decreased expression:liver 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9004484 Sepsis IEP D RGD:5147745|PMID:15665729 20120322 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1673675|PMID:17093202 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9005236 Drug Eruptions ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313683|PMID:19406192 20091008 RGD mRNA, protein:increased expression:kidney, liver 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10451 D RGD:2313685|PMID:12700423 20091008 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9005749 Necrosis ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12086689|PMID:12566070 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006302 Binge Drinking IEP D RGD:14700911|PMID:29404485 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006302 Binge Drinking ISO RGD:10451 D RGD:14700891|PMID:25236742 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006302 Binge Drinking ISO RGD:1345007 D RGD:14700891|PMID:25236742 20190826 RGD protein:increased expression, increased nitration 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006411 Testicular Injury treatment IEP D RGD:14700916|PMID:27130490 20190827 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18990727 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10451 D RGD:14700870|PMID:24064383 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10451 D RGD:14700884|PMID:25583360 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345007 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17093202 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1345007 D RGD:14700885|PMID:20939108 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:14700878|PMID:27324775 20190822 RGD associated with Endotoxemia 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:10451 D RGD:14700872|PMID:25681370 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:12668988|PMID:16770646|PMID:21741958|PMID:28762043 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:14700873|PMID:29404441 20190822 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:14700879|PMID:27490558 20190822 RGD DNA:hypermethylation:promoter 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:14700901|PMID:27960551 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:1345007 D RGD:4889126|PMID:14593914 20110211 RGD DNA:polymorphism (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9008616 Patent Ductus Venosus ISO RGD:10451 D RGD:14700900|PMID:24924401 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9008691 Liver Injury treatment IEP D RGD:14700896|PMID:24963944 20190826 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:1345007 D RGD:14700897|PMID:30489355 20190826 RGD DNA:SNP:rs3813867 (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9261 nasopharynx carcinoma ISO RGD:1345007 D RGD:11061495|PMID:26582733 20190822 RGD DNA:SNP: :rs2031920 (human) 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313688|PMID:10049703 20091008 RGD mRNA:decreased expression:liver 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10451 D RGD:2313687|PMID:10679205 20091008 RGD mRNA, protein:decreased expression:liver 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345007 D RGD:2313686|PMID:12534643 20091008 RGD mRNA:increased expression:leukocyte 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9452 fatty liver disease IEP D RGD:4892244|PMID:19404342 20110215 RGD protein:increased expression:liver 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9452 fatty liver disease ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18952117 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9452 fatty liver disease ISO RGD:1345007 D RGD:1626302|PMID:14606109 20070731 RGD 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345007 D RGD:2313684|PMID:12743671 20091008 RGD mRNA:increased expression:leukocyte 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345007 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:11774269 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9970 obesity IEP D RGD:1626307|PMID:17049493 20070731 RGD protein:increased activity:liver,fat 2475 Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 gene DOID:9970 obesity ISO RGD:1345007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1351527 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:2340 craniosynostosis ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:630 genetic disease ISO RGD:1351527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2476 Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 gene DOID:9269 maple syrup urine disease ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2479 Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2303380|PMID:19129252 20090210 RGD mRNA:increased expression:kidney 2479 Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 gene DOID:9008550 Vitamin A Deficiency treatment IEP D RGD:13782260|PMID:11724755 20180829 RGD 2480 Cyp4b1 cytochrome P450, family 4, subfamily b, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736540 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2480 Cyp4b1 cytochrome P450, family 4, subfamily b, polypeptide 1 gene DOID:11054 urinary bladder cancer ISO RGD:736540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18713828 2480 Cyp4b1 cytochrome P450, family 4, subfamily b, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 2480 Cyp4b1 cytochrome P450, family 4, subfamily b, polypeptide 1 gene DOID:630 genetic disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2481 Cyp51 cytochrome P450, family 51 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1345262 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2481 Cyp51 cytochrome P450, family 51 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:70832 D RGD:41412188|PMID:21705796 20210222 RGD 2481 Cyp51 cytochrome P450, family 51 gene DOID:2843 long QT syndrome ISO RGD:1345262 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 2481 Cyp51 cytochrome P450, family 51 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345262 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2481 Cyp51 cytochrome P450, family 51 gene DOID:630 genetic disease ISO RGD:1345262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2481 Cyp51 cytochrome P450, family 51 gene DOID:83 cataract ISO RGD:1345262 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 2481 Cyp51 cytochrome P450, family 51 gene DOID:9000808 Hypercholesterolemia IEP D RGD:13782194|PMID:16472823 20180828 RGD mRNA:decreased expression:liver 2481 Cyp51 cytochrome P450, family 51 gene DOID:9351 diabetes mellitus IEP D RGD:41412168|PMID:10876162 20210219 RGD mRNA,protein:decreased expression:liver 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:69210 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:69210 D RGD:15045601|PMID:28774887 20191218 RGD mRNA:increased expression:liver (human) 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:15092090|PMID:30038487 20200106 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13580 cholestasis ISO RGD:69210 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9797378|PMID:22461449 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13580 cholestasis treatment IEP D RGD:15090803|PMID:29655695 20200102 RGD 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis IEP D RGD:21203516|PMID:28660384 20200304 RGD mRNA:decreased expression:liver, nucleus (rat) 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:13619 extrahepatic cholestasis treatment IEP D RGD:14995480|PMID:29360226 20191213 RGD mRNA:decreased expression:liver (rat) 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:630 genetic disease ISO RGD:69210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia IEP D RGD:13782194|PMID:16472823 20180828 RGD mRNA:decreased expression:liver 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69210 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8245718 2482 Cyp7a1 cytochrome P450 family 7 subfamily A member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:15045602|PMID:15521018 20191218 RGD 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect PMID:25741868|PMID:28492532 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0050952 spastic ataxia ISO RGD:735270 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19812052 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:7240710 20130221 OMIM 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:12874406|PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24519355|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:32202070|PMID:7987300|PMID:9536098|PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:7240710 20141015 OMIM 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 PMID:18252231|PMID:18367963|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21541746|PMID:21567895|PMID:21623769|PMID:23812641|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:13580 cholestasis ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252231 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:7987300 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:32202070|PMID:7987300|PMID:9536098|PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:299 adenocarcinoma ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:3146 lipid metabolism disorder ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252231 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:409 liver disease ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:607 paraplegia ISO RGD:735270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15007371|PMID:16199547|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:7987300|PMID:9536098|PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:735270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367963|PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:28039895|PMID:28492532|PMID:29980238|PMID:9802883 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 2483 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 gene DOID:9452 fatty liver disease ISO RGD:735270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23391614 2488 Dgkb diacylglycerol kinase, beta gene DOID:0060224 atrial fibrillation ISO RGD:731815 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 2488 Dgkb diacylglycerol kinase, beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731815 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2488 Dgkb diacylglycerol kinase, beta gene DOID:630 genetic disease ISO RGD:731815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2489 Dbh dopamine beta-hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:736659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 2489 Dbh dopamine beta-hydroxylase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 2489 Dbh dopamine beta-hydroxylase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2489 Dbh dopamine beta-hydroxylase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736659 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2489 Dbh dopamine beta-hydroxylase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 2489 Dbh dopamine beta-hydroxylase gene DOID:0081097 Rafiq syndrome ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 2489 Dbh dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:7240710 20130221 OMIM 2489 Dbh dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dopamine beta-hydroxylase deficiency PMID:11170900|PMID:11857564|PMID:14598346|PMID:15060114|PMID:17576681|PMID:20186791|PMID:21209083|PMID:21471955|PMID:22028891|PMID:23622564|PMID:24033266|PMID:25450229|PMID:25741868|PMID:26762739|PMID:27778639|PMID:28492532|PMID:7715704|PMID:9536098 2489 Dbh dopamine beta-hydroxylase gene DOID:10003 sensorineural hearing loss ISO RGD:736659 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 2489 Dbh dopamine beta-hydroxylase gene DOID:10024 migraine with aura ISO RGD:736659 D RGD:1625569|PMID:17095019 20070614 RGD DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) 2489 Dbh dopamine beta-hydroxylase gene DOID:1059 intellectual disability ISO RGD:10460 D RGD:2311578|PMID:18823370 20110401 RGD mRNA:decreased expression:cerebral cortex (mouse) 2489 Dbh dopamine beta-hydroxylase gene DOID:10762 portal hypertension IEP D RGD:5129480|PMID:19968782 20110330 RGD protein:decreased expression:mesenteric artery (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:10763 hypertension IEP D RGD:5129234|PMID:20596792 20110329 RGD mRNA:increased expression:heart, adrenal gland (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:10763 hypertension resistance ISO RGD:736659 D RGD:5129211|PMID:20814407 20110329 RGD DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human) 2489 Dbh dopamine beta-hydroxylase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736659 D RGD:1358584|PMID:12707943 19990101 RGD DNA:SNP:intron 2489 Dbh dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:736659 D RGD:5129515|PMID:19276553 20110401 RGD protein:increased expression:frontal cortex (human) 2489 Dbh dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736659 D RGD:1358583|PMID:14991826 19990101 RGD DNA:snp:5' utr:g.-1021C>T (human) 2489 Dbh dopamine beta-hydroxylase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736659 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 2489 Dbh dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder ISO RGD:736659 D RGD:1625571|PMID:16252068 20070614 RGD DNA:polymorphism:cds:g.444G>A (human) 2489 Dbh dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder no_association ISO RGD:736659 D RGD:1625572|PMID:16133787 20070614 RGD DNA:polymorphism:5' utr:g.-1021C>T (human) 2489 Dbh dopamine beta-hydroxylase gene DOID:1596 depressive disorder IEP D RGD:5129527|PMID:19120095 20110401 RGD protein:decreased expression:frontal cortex (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:2316 brain ischemia IEP D RGD:5129691|PMID:18356740 20110405 RGD protein:decreased expression:forebrain (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:3652 Leigh disease ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2489 Dbh dopamine beta-hydroxylase gene DOID:630 genetic disease ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 2489 Dbh dopamine beta-hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:736659 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2489 Dbh dopamine beta-hydroxylase gene DOID:769 neuroblastoma ISO RGD:736659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 2489 Dbh dopamine beta-hydroxylase gene DOID:9001109 Anorexia IMP D RGD:5129235|PMID:20554938 20110329 RGD 2489 Dbh dopamine beta-hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5129683|PMID:18457899 20110405 RGD mRNA:decreased expression:superior mesenteric artery (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:9004890 Paranoid Disorders ISO RGD:736659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10673769|PMID:12555232|PMID:17157269 2489 Dbh dopamine beta-hydroxylase gene DOID:9005166 Contusions IEP D RGD:5129532|PMID:18987458 20110401 RGD mRNA:increased expression:adrenal gland (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5130724|PMID:16396986 20110411 RGD mRNA, protein:increased expression:adrenal gland (rat) 2489 Dbh dopamine beta-hydroxylase gene DOID:9006024 Hypotension ISO RGD:10460 D RGD:5129693|PMID:12969876 20110405 RGD 2490 Dbi diazepam binding inhibitor gene DOID:305 carcinoma ISO RGD:736302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2490 Dbi diazepam binding inhibitor gene DOID:630 genetic disease ISO RGD:736302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2490 Dbi diazepam binding inhibitor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2490 Dbi diazepam binding inhibitor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2491 Dbp D-box binding PAR bZIP transcription factor gene DOID:11476 osteoporosis ISO RGD:733159 D RGD:1625350|PMID:17002564 20070604 RGD 2491 Dbp D-box binding PAR bZIP transcription factor gene DOID:630 genetic disease ISO RGD:733159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2492 Dcc DCC netrin 1 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 2492 Dcc DCC netrin 1 receptor gene DOID:1059 intellectual disability ISO RGD:731288 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28250456 2492 Dcc DCC netrin 1 receptor gene DOID:1059 intellectual disability ISO RGD:731288 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2492 Dcc DCC netrin 1 receptor gene DOID:1107 esophageal carcinoma ISO RGD:731288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma, somatic PMID:8187090 2492 Dcc DCC netrin 1 receptor gene DOID:13938 amenorrhea ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:24808016|PMID:32870266 2492 Dcc DCC netrin 1 receptor gene DOID:1520 colon carcinoma ISO RGD:731288 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:8188295 2492 Dcc DCC netrin 1 receptor gene DOID:1909 melanoma ISO RGD:731288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 2492 Dcc DCC netrin 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731288 D RGD:734879|PMID:8187090 19990101 RGD DNA:deletions:multiple (human) 2492 Dcc DCC netrin 1 receptor gene DOID:4961 bone marrow disease ISO RGD:731288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 2492 Dcc DCC netrin 1 receptor gene DOID:5041 esophageal cancer ISO RGD:731288 D RGD:7240710 20190315 OMIM 2492 Dcc DCC netrin 1 receptor gene DOID:630 genetic disease ISO RGD:731288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28250454|PMID:28492532 2492 Dcc DCC netrin 1 receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2314373|PMID:16998900 20091112 RGD 2492 Dcc DCC netrin 1 receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731288 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 2492 Dcc DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:7240710 20190315 OMIM 2492 Dcc DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 PMID:25741868|PMID:28250456|PMID:28492532 2492 Dcc DCC netrin 1 receptor gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731288 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28250454 2492 Dcc DCC netrin 1 receptor gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24808016|PMID:28250454 2492 Dcc DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:7240710 20130221 OMIM 2492 Dcc DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 1 PMID:19127048|PMID:20431009|PMID:21681106|PMID:24808016|PMID:25741868|PMID:28250454|PMID:28492532|PMID:31697046|PMID:32870266 2492 Dcc DCC netrin 1 receptor gene DOID:9004009 Reperfusion Injury IEP D RGD:2314372|PMID:17574219 20091112 RGD protein:increased expression:brain 2492 Dcc DCC netrin 1 receptor gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:731288 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28250456 2492 Dcc DCC netrin 1 receptor gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:2314374|PMID:16337279 20091112 RGD 2492 Dcc DCC netrin 1 receptor gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868 2492 Dcc DCC netrin 1 receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15365072 2492 Dcc DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:7240710 20200226 OMIM 2492 Dcc DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 2493 Ace angiotensin I converting enzyme gene DOID:0050152 aspiration pneumonia ISO RGD:737323 D RGD:4140926|PMID:14990394 20100902 RGD associated with Cerebrovascular Accident 2493 Ace angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea IEP D RGD:11039043|PMID:24775918 20160301 RGD mRNA:increased expression:cardiac atrium 2493 Ace angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea severity ISO RGD:737323 D RGD:4140917|PMID:19482546 20100902 RGD associated with Hypertension;DNA:polymorphism (human) 2493 Ace angiotensin I converting enzyme gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:737323 D RGD:4140915|PMID:20182789 20100901 RGD DNA:polymorphism (human) 2493 Ace angiotensin I converting enzyme gene DOID:0050851 glomerulosclerosis treatment IMP D RGD:12879389|PMID:21718676 20170417 RGD 2493 Ace angiotensin I converting enzyme gene DOID:0050855 renal fibrosis ISO RGD:737323 D RGD:8158033|PMID:10504496 20140205 RGD protein:decreased expression:renal medulla, renal cortex, brush border epithelial cell (human) 2493 Ace angiotensin I converting enzyme gene DOID:0050855 renal fibrosis treatment IMP D RGD:12879403|PMID:10644663 20170418 RGD 2493 Ace angiotensin I converting enzyme gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy onset ISO RGD:737323 D RGD:8548899|PMID:21633717 20140325 RGD DNA:insertion/deletion:intron 2493 Ace angiotensin I converting enzyme gene DOID:0060071 pre-malignant neoplasm treatment IMP D RGD:11039027|PMID:24959250 20160229 RGD associated with Colonic Neoplasms 2493 Ace angiotensin I converting enzyme gene DOID:0060186 chemical colitis ISO RGD:10468 D RGD:11555935|PMID:26401072 20201028 RGD protein:increased expression:small intestine, large intestine:extracellular space (mouse) 2493 Ace angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 2493 Ace angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:737323 D RGD:7829797|PMID:23170137 20140124 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:737323 D RGD:8142351|PMID:19648063 20140130 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:0060500 drug allergy ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18727619 2493 Ace angiotensin I converting enzyme gene DOID:0080205 CAKUT ISO RGD:737323 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:34906502 2493 Ace angiotensin I converting enzyme gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 2493 Ace angiotensin I converting enzyme gene DOID:0080599 Coronavirus infectious disease ISO RGD:737323 D RGD:4140930|PMID:17108019 20100902 RGD Severe Acute Respiratory Syndrome 2493 Ace angiotensin I converting enzyme gene DOID:0080600 COVID-19 no_association ISO RGD:737323 D RGD:30309201|PMID:32386188 20200618 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:0080600 COVID-19 severity ISO RGD:737323 D RGD:30309199|PMID:32286246 20200618 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:12879406|PMID:20798958 20170418 RGD mRNA:increased expression:kidney (rat) 2493 Ace angiotensin I converting enzyme gene DOID:0110861 autosomal recessive polycystic kidney disease IMP D RGD:2325220|PMID:20229187 20100526 RGD 2493 Ace angiotensin I converting enzyme gene DOID:0111128 focal segmental glomerulosclerosis 1 treatment IMP D RGD:12880006|PMID:8505110 20170501 RGD 2493 Ace angiotensin I converting enzyme gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:737323 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 2493 Ace angiotensin I converting enzyme gene DOID:10322 berylliosis ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10194187 2493 Ace angiotensin I converting enzyme gene DOID:10533 viral pneumonia ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15381116 2493 Ace angiotensin I converting enzyme gene DOID:10534 stomach cancer susceptibility ISO RGD:737323 D RGD:39939122|PMID:17035401 20201028 RGD DNA:insertion/deletion, haplotype:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:10591 pre-eclampsia ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17114810 2493 Ace angiotensin I converting enzyme gene DOID:10591 pre-eclampsia onset ISO RGD:737323 D RGD:40400703|PMID:20044877 20201102 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:10608 celiac disease ISO RGD:737323 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 2493 Ace angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease IMP D RGD:2325232|PMID:19080340 20100526 RGD 2493 Ace angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease ISO RGD:737323 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:9916793|PMID:10643899|PMID:14872014|PMID:17192785|PMID:30820047 2493 Ace angiotensin I converting enzyme gene DOID:10652 Alzheimer's disease ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:1074 kidney failure ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension IDA D RGD:1601113|PMID:17392119 20070406 RGD 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension IEP D RGD:1581743|PMID:16203874 20170412 RGD protein:increased activity:lung (rat) 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:737323 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:17473847|PMID:20237592|PMID:27847271 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension susceptibility ISO RGD:737323 D RGD:1601114|PMID:17283861 20070406 RGD DNA:polymorphism 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension treatment IMP D RGD:11039415|PMID:24342267 20160302 RGD 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension treatment IMP D RGD:8157611|PMID:3006710 20140203 RGD 2493 Ace angiotensin I converting enzyme gene DOID:10763 hypertension treatment ISO RGD:10468 D RGD:40400899|PMID:27325568 20201105 RGD 2493 Ace angiotensin I converting enzyme gene DOID:10907 microcephaly ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 2493 Ace angiotensin I converting enzyme gene DOID:10941 intracranial aneurysm ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:10952 nephritis susceptibility ISO RGD:737323 D RGD:11533935|PMID:22895845 20160913 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :-240A>T,2350A>G (human) 2493 Ace angiotensin I converting enzyme gene DOID:11123 Henoch-Schoenlein purpura disease_progression ISO RGD:737323 D RGD:11038920|PMID:15315169 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:40400721|PMID:183595 20201103 RGD protein:increased activity:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:11335 sarcoidosis ISO RGD:737323 D RGD:40400746|PMID:11168787 20201104 RGD DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr: 2493 Ace angiotensin I converting enzyme gene DOID:11335 sarcoidosis disease_progression ISO RGD:737323 D RGD:11039025|PMID:6287584 20160229 RGD 2493 Ace angiotensin I converting enzyme gene DOID:11335 sarcoidosis severity ISO RGD:737323 D RGD:40400722|PMID:18496980 20201103 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:11335 sarcoidosis severity ISO RGD:737323 D RGD:40400908|PMID:29229112 20201105 RGD DNA:SNP:enhancer: 2493 Ace angiotensin I converting enzyme gene DOID:11394 adult respiratory distress syndrome ISO RGD:737323 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:12204859|PMID:22009550 2493 Ace angiotensin I converting enzyme gene DOID:11394 adult respiratory distress syndrome ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:11400 pyelonephritis ISO RGD:737323 D RGD:8158033|PMID:10504496 20140205 RGD protein:decreased expression:kidney, brush border epithelial cell (human) 2493 Ace angiotensin I converting enzyme gene DOID:11476 osteoporosis IMP D RGD:2325225|PMID:19590507 20100526 RGD associated with Hypertension 2493 Ace angiotensin I converting enzyme gene DOID:11713 diabetic angiopathy ISO RGD:737323 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2493 Ace angiotensin I converting enzyme gene DOID:11713 diabetic angiopathy ISO RGD:737323 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3 PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:20093180|PMID:21471972|PMID:22095942|PMID:24163131|PMID:25741868|PMID:2847529|PMID:2849100|PMID:28492532|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 2493 Ace angiotensin I converting enzyme gene DOID:1184 nephrotic syndrome IDA D RGD:11038913|PMID:2175683 20160229 RGD protein:increased activity:multiple 2493 Ace angiotensin I converting enzyme gene DOID:1184 nephrotic syndrome treatment IMP D RGD:1598707|PMID:15942045 20160302 RGD 2493 Ace angiotensin I converting enzyme gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:737323 D RGD:1566491|PMID:9270088 19990101 RGD DNA:insertion/deletion:intron 2493 Ace angiotensin I converting enzyme gene DOID:1205 allergic disease susceptibility ISO RGD:737323 D RGD:8142344|PMID:10200023 20140130 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:12236 primary biliary cholangitis IEP D RGD:2325226|PMID:19389807 20100526 RGD mRNA:increased expression:liver 2493 Ace angiotensin I converting enzyme gene DOID:12336 male infertility ISO RGD:737323 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:8642790|PMID:12075344 2493 Ace angiotensin I converting enzyme gene DOID:12365 malaria severity ISO RGD:10468 D RGD:39939120|PMID:31234939 20201028 RGD 2493 Ace angiotensin I converting enzyme gene DOID:1240 leukemia disease_progression ISO RGD:737323 D RGD:11039000|PMID:12781647 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:12549 hepatitis A ISO RGD:737323 D RGD:39939119|PMID:12458570 20201028 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:12849 autistic disorder ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27082637 2493 Ace angiotensin I converting enzyme gene DOID:1287 cardiovascular system disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11498459|PMID:14657821|PMID:16544732 2493 Ace angiotensin I converting enzyme gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:737323 D RGD:1566491|PMID:9270088 20140325 RGD DNA:insertion/deletion:intron 2493 Ace angiotensin I converting enzyme gene DOID:12932 endomyocardial fibrosis IEP D RGD:8157600|PMID:12131554 20140203 RGD protein:increased activity:lung, heart left ventricle, plasma (rat) 2493 Ace angiotensin I converting enzyme gene DOID:12935 alcoholic cardiomyopathy ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:12986 leukostasis IMP D RGD:11039403|PMID:16822509 20160302 RGD associated with Diabetes Mellitus, Experimental 2493 Ace angiotensin I converting enzyme gene DOID:13141 uveitis ISO RGD:737323 D RGD:8142348|PMID:229083 20140130 RGD Chronic Granulomatous Uveitis;protein:increased expression:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:1324 lung cancer susceptibility ISO RGD:737323 D RGD:4140486|PMID:20303010 20100831 RGD DNA:polymorphism (human) 2493 Ace angiotensin I converting enzyme gene DOID:13241 Behcet's disease no_association ISO RGD:737323 D RGD:8142349|PMID:15045629 20140130 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:13241 Behcet's disease susceptibility ISO RGD:737323 D RGD:7829810|PMID:15961928 20140124 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:13580 cholestasis IEP D RGD:25671450|PMID:30458228 20200427 RGD mRNA:increased expression:liver (rat) 2493 Ace angiotensin I converting enzyme gene DOID:14115 toxic shock syndrome severity ISO RGD:737323 D RGD:39939121|PMID:28336767 20201028 RGD DNA:SNP, insertion/deletion:promoter, intron: (rs4291, rs4646994) 2493 Ace angiotensin I converting enzyme gene DOID:14330 Parkinson's disease ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:14499 Fabry disease treatment ISO RGD:737323 D RGD:12879402|PMID:20941593 20170418 RGD 2493 Ace angiotensin I converting enzyme gene DOID:1579 respiratory system disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14657821 2493 Ace angiotensin I converting enzyme gene DOID:1591 renovascular hypertension IEP D RGD:6893471|PMID:22342460 20120830 RGD 2493 Ace angiotensin I converting enzyme gene DOID:1591 renovascular hypertension treatment IDA D RGD:8157609|PMID:20630208 20140203 RGD 2493 Ace angiotensin I converting enzyme gene DOID:1612 breast cancer susceptibility ISO RGD:737323 D RGD:8548866|PMID:23828384 20140324 RGD DNA:insertion/deletion, haplotype 2493 Ace angiotensin I converting enzyme gene DOID:1793 pancreatic cancer ISO RGD:10468 D RGD:2325208|PMID:19880966 20100525 RGD 2493 Ace angiotensin I converting enzyme gene DOID:1926 Gaucher's disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 2493 Ace angiotensin I converting enzyme gene DOID:2316 brain ischemia ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 2493 Ace angiotensin I converting enzyme gene DOID:2355 anemia ISO RGD:737323 D RGD:11038916|PMID:18156303 20160229 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:2355 anemia ISO RGD:737323 D RGD:11038919|PMID:23141116 20160229 RGD 2493 Ace angiotensin I converting enzyme gene DOID:2527 nephrosis IEP D RGD:8157608|PMID:8303709 20140203 RGD protein:increased activity:multiple (rats) 2493 Ace angiotensin I converting enzyme gene DOID:2527 nephrosis treatment IMP D RGD:12879388|PMID:8665777 20170417 RGD Adriamycin Nephrosis 2493 Ace angiotensin I converting enzyme gene DOID:2746 glycogen storage disease V ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12666117 2493 Ace angiotensin I converting enzyme gene DOID:2799 bronchiolitis obliterans IMP D RGD:4140933|PMID:17097496 20100902 RGD 2493 Ace angiotensin I converting enzyme gene DOID:2841 asthma susceptibility ISO RGD:737323 D RGD:4140913|PMID:19484664 20100901 RGD DNA:polymorphism (human) 2493 Ace angiotensin I converting enzyme gene DOID:2841 asthma susceptibility ISO RGD:737323 D RGD:4140919|PMID:19383228 20100902 RGD DNA:polymorphism (human) 2493 Ace angiotensin I converting enzyme gene DOID:2921 glomerulonephritis IMP D RGD:2325229|PMID:19164508 20100526 RGD 2493 Ace angiotensin I converting enzyme gene DOID:2945 severe acute respiratory syndrome ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15381116 2493 Ace angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7593601|PMID:9259580 2493 Ace angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 2493 Ace angiotensin I converting enzyme gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:737323 D RGD:7257515|PMID:12220450 20130821 RGD DNA:polymorphism:intron: 2493 Ace angiotensin I converting enzyme gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:737323 D RGD:40400709|PMID:24680475 20201102 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:299 adenocarcinoma ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 2493 Ace angiotensin I converting enzyme gene DOID:3021 acute kidney failure treatment IMP D RGD:11039053|PMID:24502693 20160301 RGD 2493 Ace angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737323 D RGD:4140487|PMID:20096799 20100831 RGD 2493 Ace angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:737323 D RGD:4140912|PMID:19493329 20100901 RGD 2493 Ace angiotensin I converting enzyme gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737323 D RGD:4140480|PMID:20156752 20100831 RGD DNA:polymorphism (human) 2493 Ace angiotensin I converting enzyme gene DOID:3312 bipolar disorder IEA D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:3393 coronary artery disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14989558 2493 Ace angiotensin I converting enzyme gene DOID:3393 coronary artery disease ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:3393 coronary artery disease susceptibility ISO RGD:737323 D RGD:1566498|PMID:12975417 19990101 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:3407 carotid artery disease ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:3500 gallbladder adenocarcinoma ISO RGD:737323 D RGD:2325207|PMID:20438364 20100525 RGD DNA:polymorphism: :rs4646994 (human) 2493 Ace angiotensin I converting enzyme gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:11039026|PMID:24471927 20160229 RGD 2493 Ace angiotensin I converting enzyme gene DOID:3526 cerebral infarction ISO RGD:737323 D RGD:11038922|PMID:11596779 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:3526 cerebral infarction ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 2493 Ace angiotensin I converting enzyme gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737323 D RGD:2325211|PMID:17481528 20100525 RGD mRNA, protein:increased expression:pancreas 2493 Ace angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis IEP D RGD:4140483|PMID:20581171 20100831 RGD associated with Lung Injury;protein:decreased expression:lung 2493 Ace angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis IMP D RGD:4140923|PMID:17506718 20100902 RGD associated with Hypertension 2493 Ace angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis IMP D RGD:4140925|PMID:17506716 20100902 RGD associated with Radiation Pneumonitis 2493 Ace angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:10468 D RGD:4140478|PMID:20651228 20100831 RGD associated with Lung Injury 2493 Ace angiotensin I converting enzyme gene DOID:3770 pulmonary fibrosis ISO RGD:737323 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:33007385 2493 Ace angiotensin I converting enzyme gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:12859277|PMID:9498404 20170413 RGD protein:increased activity:lung (rat) 2493 Ace angiotensin I converting enzyme gene DOID:3905 lung carcinoma ISO RGD:737323 D RGD:40400721|PMID:183595 20201103 RGD protein:decreased activity:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:4079 heart valve disease susceptibility ISO RGD:737323 D RGD:40400707|PMID:12578328 20201102 RGD associated with rheumatic fever;DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:418 systemic scleroderma ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:418 systemic scleroderma ISO RGD:737323 D RGD:8548889|PMID:17360781 20140325 RGD protein:decreased expression:plasma 2493 Ace angiotensin I converting enzyme gene DOID:4247 coronary restenosis ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9236417 2493 Ace angiotensin I converting enzyme gene DOID:4481 allergic rhinitis no_association ISO RGD:737323 D RGD:8142345|PMID:15112973 20140130 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:5082 liver cirrhosis ISO RGD:737323 D RGD:40400898|PMID:29085215 20201105 RGD associated with Chronic Hepatitis B;protein:increased expression:blood serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:5082 liver cirrhosis no_association ISO RGD:737323 D RGD:11537135|PMID:26681055 20201028 RGD associated with liver disease;DNA:insertion/deletion: 2493 Ace angiotensin I converting enzyme gene DOID:5082 liver cirrhosis severity ISO RGD:737323 D RGD:39939123|PMID:19456900 20201028 RGD associated with hepatitis C;DNA:insertion/deletion: 2493 Ace angiotensin I converting enzyme gene DOID:5082 liver cirrhosis treatment IEP D RGD:25671453|PMID:29335866 20200427 RGD 2493 Ace angiotensin I converting enzyme gene DOID:5082 liver cirrhosis treatment IEP D RGD:25671454|PMID:28822808 20200427 RGD 2493 Ace angiotensin I converting enzyme gene DOID:5199 ureteral obstruction treatment IMP D RGD:12880020|PMID:21667191 20170501 RGD 2493 Ace angiotensin I converting enzyme gene DOID:5419 schizophrenia ISO RGD:737323 D RGD:11353163|PMID:26296754 20201028 RGD protein:decreased activity:plasma (human) 2493 Ace angiotensin I converting enzyme gene DOID:552 pneumonia ISO RGD:737323 D RGD:4140916|PMID:20051911 20100901 RGD associated with Hypertension 2493 Ace angiotensin I converting enzyme gene DOID:552 pneumonia ISO RGD:737323 D RGD:4140922|PMID:17727310 20100902 RGD 2493 Ace angiotensin I converting enzyme gene DOID:552 pneumonia disease_progression ISO RGD:737323 D RGD:4140918|PMID:19455553 20100902 RGD 2493 Ace angiotensin I converting enzyme gene DOID:557 kidney disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8642790 2493 Ace angiotensin I converting enzyme gene DOID:576 proteinuria severity ISO RGD:737323 D RGD:11038828|PMID:10193250 20160229 RGD associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:576 proteinuria treatment IMP D RGD:12879396|PMID:10844603 20170418 RGD associated with Acute Kidney Injury 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction IMP D RGD:6893480|PMID:21975128 20120831 RGD associated with Myocardial Reperfusion Injury 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1328889|PMID:8131300 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction ISO RGD:737323 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:25741868|PMID:2847529|PMID:2849100|PMID:28492532|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction susceptibility ISO RGD:737323 D RGD:7829785|PMID:7555560 20140124 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction treatment IEP D RGD:1558664|PMID:15671045 20150108 RGD 2493 Ace angiotensin I converting enzyme gene DOID:5844 myocardial infarction treatment IEP D RGD:9685449|PMID:23959549 20150109 RGD 2493 Ace angiotensin I converting enzyme gene DOID:6000 congestive heart failure IMP D RGD:2325224|PMID:19620082 20100526 RGD associated with Myocardial Infarction 2493 Ace angiotensin I converting enzyme gene DOID:6000 congestive heart failure IMP D RGD:6893472|PMID:22123369 20120830 RGD associated with Hypertension 2493 Ace angiotensin I converting enzyme gene DOID:6000 congestive heart failure ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18586661 2493 Ace angiotensin I converting enzyme gene DOID:6000 congestive heart failure treatment IEP D RGD:12859272|PMID:15894569 20170413 RGD 2493 Ace angiotensin I converting enzyme gene DOID:61 mitral valve disease susceptibility ISO RGD:737323 D RGD:40400724|PMID:14765837 20201103 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:630 genetic disease ISO RGD:737323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2493 Ace angiotensin I converting enzyme gene DOID:6432 pulmonary hypertension ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 2493 Ace angiotensin I converting enzyme gene DOID:684 hepatocellular carcinoma ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16328049 2493 Ace angiotensin I converting enzyme gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737323 D RGD:11343535|PMID:25208933 20201102 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:737323 D RGD:7829800|PMID:22876137 20140124 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:7693 abdominal aortic aneurysm treatment IMP D RGD:11039028|PMID:24602481 20160229 RGD 2493 Ace angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7593601|PMID:10099885 2493 Ace angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:783 end stage renal disease ISO RGD:737323 D RGD:6903283|PMID:20149750 20120928 RGD associated with Vesico-Ureteral Reflux;DNA:deletion 2493 Ace angiotensin I converting enzyme gene DOID:783 end stage renal disease susceptibility ISO RGD:737323 D RGD:8142355|PMID:16385653 20140130 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:783 end stage renal disease treatment IMP D RGD:12879398|PMID:14586729 20170418 RGD 2493 Ace angiotensin I converting enzyme gene DOID:790 ocular hypotension IMP D RGD:11039029|PMID:24583339 20160229 RGD 2493 Ace angiotensin I converting enzyme gene DOID:820 myocarditis treatment IMP D RGD:11039042|PMID:24709159 20160301 RGD 2493 Ace angiotensin I converting enzyme gene DOID:841 extrinsic allergic alveolitis ISO RGD:737323 D RGD:4140920|PMID:19218674 20100902 RGD protein:increased expression:plasma 2493 Ace angiotensin I converting enzyme gene DOID:8432 polycythemia treatment ISO RGD:737323 D RGD:11038827|PMID:18339134 20160229 RGD 2493 Ace angiotensin I converting enzyme gene DOID:850 lung disease IEP D RGD:4140485|PMID:20465954 20100831 RGD associated with Poisoning;mRNA:decreased expression:lung 2493 Ace angiotensin I converting enzyme gene DOID:850 lung disease IMP D RGD:2325231|PMID:19114890 20100526 RGD associated with Endotoxemia 2493 Ace angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:10468 D RGD:4140488|PMID:20004673 20100831 RGD associated with Diabetes Mellitus, Experimental 2493 Ace angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:10468 D RGD:5129168|PMID:20723410 20110325 RGD Lung Injury 2493 Ace angiotensin I converting enzyme gene DOID:850 lung disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18702808 2493 Ace angiotensin I converting enzyme gene DOID:8552 chronic myeloid leukemia ISO RGD:737323 D RGD:11039056|PMID:19761684 20160301 RGD 2493 Ace angiotensin I converting enzyme gene DOID:8646 substance-induced psychosis ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17196621 2493 Ace angiotensin I converting enzyme gene DOID:8719 in situ carcinoma ISO RGD:10468 D RGD:2325208|PMID:19880966 20100525 RGD associated with Pancreatic Neoplasms 2493 Ace angiotensin I converting enzyme gene DOID:8805 intermediate coronary syndrome ISO RGD:737323 D RGD:8142363|PMID:15131005 20140130 RGD mRNA:increased expression:ventricular myocardium (human) 2493 Ace angiotensin I converting enzyme gene DOID:8805 intermediate coronary syndrome ISO RGD:737323 D RGD:8548894|PMID:11451295 20140325 RGD mRNA:increased expression:myocardium 2493 Ace angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy ISO RGD:737323 D RGD:8142360|PMID:2157294 20140130 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy no_association ISO RGD:737323 D RGD:7829780|PMID:7729604 20140124 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737323 D RGD:7829783|PMID:11106834 20140124 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737323 D RGD:7829794|PMID:23065222 20140124 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human) 2493 Ace angiotensin I converting enzyme gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:737323 D RGD:40400901|PMID:16741935 20201105 RGD DNA:insertion/deletion: 2493 Ace angiotensin I converting enzyme gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 2493 Ace angiotensin I converting enzyme gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737323 D RGD:8548864|PMID:16105049 20140324 RGD associated with Kidney Failure, Chronic;DNA:insertion/deletion 2493 Ace angiotensin I converting enzyme gene DOID:9000099 Experimental Colitis treatment ISO RGD:10468 D RGD:40400720|PMID:24239644 20201103 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9000099 Experimental Colitis treatment ISO RGD:10468 D RGD:40400748|PMID:17342403 20201104 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9000184 Ventricular Fibrillation treatment IMP D RGD:11039030|PMID:25663023 20160229 RGD associated with Myocardial Reperfusion Injury 2493 Ace angiotensin I converting enzyme gene DOID:9000217 Stomach Neoplasms ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 2493 Ace angiotensin I converting enzyme gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11039031|PMID:24036592 20160229 RGD mRNA:increased expression:carotid body 2493 Ace angiotensin I converting enzyme gene DOID:9000310 Lung Injury ISO RGD:737323 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:33007385 2493 Ace angiotensin I converting enzyme gene DOID:9000352 Vascular System Injuries ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19258495 2493 Ace angiotensin I converting enzyme gene DOID:9000352 Vascular System Injuries susceptibility IAGP D RGD:8157602|PMID:9484988 20140203 RGD DNA:repeat:intron:IVS13+40(CA)?-26 (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18727619 2493 Ace angiotensin I converting enzyme gene DOID:9000528 Coronary Disease ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8170965 2493 Ace angiotensin I converting enzyme gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737323 D RGD:8142364|PMID:9488209 20140130 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9000641 Pain IMP D RGD:2325233|PMID:18555989 20100526 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9000965 Neoplasm Metastasis ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 2493 Ace angiotensin I converting enzyme gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:737323 D RGD:11039024|PMID:20488708 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:737323 D RGD:19165343|PMID:3028446 20200427 RGD protein:increased activity:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:737323 D RGD:40400719|PMID:28691216 20201103 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9001415 Mycobacterium Infections ISO RGD:737323 D RGD:40818305|PMID:15881283 20201118 RGD associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:9001542 Albuminuria ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23733546 2493 Ace angiotensin I converting enzyme gene DOID:9001542 Albuminuria ISO RGD:737323 D RGD:7829770|PMID:1336356 20140124 RGD associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:9001542 Albuminuria treatment IMP D RGD:12879427|PMID:16902320 20170419 RGD associated with Diabetic Nephropathies 2493 Ace angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:25671457|PMID:23663763 20200427 RGD mRNA:increased expression:liver (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:25671458|PMID:8445218 20200427 RGD protein:increased activity:plasma (human) 2493 Ace angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis severity IEP D RGD:21408579|PMID:24035938 20200427 RGD mRNA:increased expression:liver (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9001573 Experimental Liver Cirrhosis severity IEP D RGD:25671449|PMID:19424597 20200427 RGD mRNA: increased expression:liver (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9001650 Pregnancy-Induced Hypertension IEP D RGD:8548898|PMID:17977916 20140325 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9001916 Fetal Death ISO RGD:737323 D RGD:11038921|PMID:11085286 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9001981 Weight Loss ISO RGD:737323 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:33007385 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies IMP D RGD:2311449|PMID:19301230 20100526 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:7909524|PMID:10099885|PMID:10857950|PMID:23733546|PMID:28468961 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies ISO RGD:737323 D RGD:8548872|PMID:10862638 20140324 RGD associated with Diabetes Mellitus, Type 1;DNA:insertion/deletion 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:737323 D RGD:7829780|PMID:7729604 20140124 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:737323 D RGD:8548885|PMID:11938025 20140325 RGD associated with Diabetes Mellitus, Type 2;DNA:insertion/deletion 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737323 D RGD:7829777|PMID:8314010 20140124 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:11039044|PMID:23803175 20160301 RGD associated with Diabetes Mellitus, Experimental 2493 Ace angiotensin I converting enzyme gene DOID:9002231 Fetal Growth Retardation IEP D RGD:12879387|PMID:24847689 20170417 RGD mRNA:increased expression:kidney (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9002304 Prostatic Neoplasms ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17465223 2493 Ace angiotensin I converting enzyme gene DOID:9002457 Experimental Arthritis IEP D RGD:2325221|PMID:20213806 20100526 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9002488 Peritoneal Fibrosis treatment IMP D RGD:12879430|PMID:15770604 20170419 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10468 D RGD:12879821|PMID:19270231 20170426 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15277638 2493 Ace angiotensin I converting enzyme gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:25741868|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 2493 Ace angiotensin I converting enzyme gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:737323 D RGD:40818408|PMID:21346373 20201119 RGD protein:increased expression:nephron tubule, kidney interstitium (human) 2493 Ace angiotensin I converting enzyme gene DOID:9002721 Hypertensive Nephrosclerosis treatment IMP D RGD:12879397|PMID:10580398 20170418 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:737323 D RGD:11530041|PMID:24819208 20201104 RGD associated with acute leukemia;DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia severity ISO RGD:737323 D RGD:11038917|PMID:15806540 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9003379 Radiation Nephropathy treatment IMP D RGD:12880012|PMID:8995730 20170501 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:737323 D RGD:11038826|PMID:10937809 20160229 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9003758 Banti's Syndrome ISO RGD:737323 D RGD:25671452|PMID:21290180 20200427 RGD protein:increased expression:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:9003936 Cardiomegaly treatment IMP D RGD:11039415|PMID:24342267 20160302 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9004009 Reperfusion Injury IMP D RGD:2325213|PMID:20436217 20100525 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C ISO RGD:737323 D RGD:25671451|PMID:29641775 20200427 RGD protein:decreased expression:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C treatment IEP D RGD:25671456|PMID:27147779 20200427 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737323 D RGD:40400711|PMID:17106926 20201102 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9004484 Sepsis susceptibility ISO RGD:737323 D RGD:40400706|PMID:19143971 20201102 RGD DNA:insertion/deletion:intron: 2493 Ace angiotensin I converting enzyme gene DOID:9004610 Acute Lung Injury treatment ISO RGD:10468 D RGD:40400897|PMID:29990483 20201105 RGD associated wit Escherichia coli Infections 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:8157600|PMID:12131554 20140203 RGD protein:increased activity:lung, heart left ventricle, plasma (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8349331 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:737323 D RGD:8142350|PMID:17625392 20140130 RGD associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment IMP D RGD:12879391|PMID:9344638 20170418 RGD associated with Aortic Coarctation 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment IMP D RGD:12880015|PMID:10072897 20170502 RGD associated with Aortic Coarctation 2493 Ace angiotensin I converting enzyme gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:737323 D RGD:11038918|PMID:15503682 20160229 RGD associated with Anemia 2493 Ace angiotensin I converting enzyme gene DOID:9004657 Weight Gain ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 2493 Ace angiotensin I converting enzyme gene DOID:9004676 Premature Infant Diseases ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14657821 2493 Ace angiotensin I converting enzyme gene DOID:9005172 Lung Neoplasms ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 2493 Ace angiotensin I converting enzyme gene DOID:9005605 Arteriovenous Fistula IEP D RGD:12859285|PMID:22768235 20170414 RGD protein:increased activity:heart left ventricle (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9005605 Arteriovenous Fistula treatment IMP D RGD:12880017|PMID:8386093 20170501 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313799|PMID:18679036 20091016 RGD protein:increased expression:kidney 2493 Ace angiotensin I converting enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 2493 Ace angiotensin I converting enzyme gene DOID:9005883 Pleural Effusion ISO RGD:737323 D RGD:40818411|PMID:23091417 20201119 RGD associated with tuberculosis;protein:increased activity:pleural fluid (human) 2493 Ace angiotensin I converting enzyme gene DOID:9005930 Endotoxemia IEP D RGD:8142370|PMID:3028670 20140130 RGD associated with Hemorrhage;protein:decreased activity:plasma (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9006024 Hypotension ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3544871 2493 Ace angiotensin I converting enzyme gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:8142368|PMID:7585810 20140130 RGD associated with Hypertension;protein:increased activity:heart right ventricle (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20454656 2493 Ace angiotensin I converting enzyme gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:737323 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism PMID:16116425 2493 Ace angiotensin I converting enzyme gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:16116425|PMID:20093180|PMID:20416077|PMID:21471972|PMID:22095942|PMID:22829467|PMID:24033266|PMID:24163131|PMID:25741868|PMID:28492532|PMID:33532864|PMID:34906502 2493 Ace angiotensin I converting enzyme gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:6893484|PMID:21680852 20120831 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9006262 Cytomegalovirus Infections ISO RGD:737323 D RGD:40400905|PMID:29752343 20201105 RGD associated with essential hypertension:DNA:hypomethylation 2493 Ace angiotensin I converting enzyme gene DOID:9006618 Liver Metastasis ISO RGD:10468 D RGD:25671446|PMID:20380732 20200427 RGD associated with colorectal cancer;mRNA:increased expression:liver (mouse) 2493 Ace angiotensin I converting enzyme gene DOID:9006697 Congenital Hepatic Fibrosis IEP D RGD:2325215|PMID:20400910 20100525 RGD associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver 2493 Ace angiotensin I converting enzyme gene DOID:9006741 Acute Hepatitis treatment IEP D RGD:25671455|PMID:31385307 20200427 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9006832 Puromycin Aminonucleoside Nephrosis treatment IMP D RGD:12879820|PMID:3392211 20170426 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:9685456|PMID:22595130 20150109 RGD associated with Diabetes Mellitus, Experimental 2493 Ace angiotensin I converting enzyme gene DOID:9007073 Cough ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12848919|PMID:15498266 2493 Ace angiotensin I converting enzyme gene DOID:9007073 Cough ISO RGD:737323 D RGD:4140914|PMID:20364557 20100901 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9007096 Stroke IMP D RGD:6893481|PMID:21901125 20120831 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9007096 Stroke ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 2493 Ace angiotensin I converting enzyme gene DOID:9007096 Stroke ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9007096 Stroke ISO RGD:737323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10099885|PMID:10636736|PMID:10643899|PMID:10841123|PMID:11687636|PMID:11956052|PMID:12220450|PMID:12666117|PMID:1313972|PMID:1319114|PMID:1328889|PMID:1386652|PMID:14657821|PMID:14872014|PMID:15110771|PMID:15277638|PMID:15381116|PMID:15531537|PMID:15534175|PMID:15635071|PMID:19221299|PMID:1976655|PMID:2847529|PMID:2849100|PMID:7593601|PMID:7729604|PMID:7783416|PMID:7854377|PMID:7909524|PMID:8131299|PMID:8131300|PMID:8136829|PMID:8170965|PMID:8208911|PMID:8298638|PMID:8314010|PMID:8541160|PMID:8644984|PMID:8675669|PMID:9120002|PMID:9236417|PMID:9259580|PMID:9699903|PMID:9737775|PMID:9916793 2493 Ace angiotensin I converting enzyme gene DOID:9007096 Stroke treatment ISO RGD:737323 D RGD:40400712|PMID:15256675 20201102 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9007174 Ventricular Remodeling treatment IDA D RGD:9685440|PMID:18223026 20150109 RGD associated with Acute Kidney Injury 2493 Ace angiotensin I converting enzyme gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:25671447|PMID:25143335 20200427 RGD mRNA:increased expression:liver (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9007480 Hyperoxia IEP D RGD:12880008|PMID:21791939 20170501 RGD mRNA, protein:increased expression:lung (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9007692 Insulin Resistance ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:13515113|PMID:15001561 20180404 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9007820 Sudden Death ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15331425 2493 Ace angiotensin I converting enzyme gene DOID:9007908 Aortic Coarctation IEP D RGD:12859271|PMID:18419956 20170413 RGD mRNA, protein:increased expression:myocardium (rat) 2493 Ace angiotensin I converting enzyme gene DOID:9008023 Memory Disorders IMP D RGD:6893483|PMID:21864581 20120831 RGD 2493 Ace angiotensin I converting enzyme gene DOID:9008023 Memory Disorders ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:737323 D RGD:40400710|PMID:28746216 20201102 RGD DNA:insertion/deletion:intron: 2493 Ace angiotensin I converting enzyme gene DOID:9008366 Meningococcal Infections ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11956052 2493 Ace angiotensin I converting enzyme gene DOID:9008705 Angiotensin I-Converting Enzyme, Benign Serum Increase ISO RGD:737323 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Angiotensin i-converting enzyme, benign serum increase PMID:11076943|PMID:11551873|PMID:14694062 2493 Ace angiotensin I converting enzyme gene DOID:9008885 Staphylococcal Infections ISO RGD:737323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8186310 2493 Ace angiotensin I converting enzyme gene DOID:9074 systemic lupus erythematosus ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737323 D RGD:8142353|PMID:24452036 20140130 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9538 multiple myeloma ISO RGD:737323 D RGD:11038914|PMID:22345095 20160229 RGD protein:increased activity:serum 2493 Ace angiotensin I converting enzyme gene DOID:9744 type 1 diabetes mellitus ISO RGD:737323 D RGD:7829770|PMID:1336356 20140124 RGD protein:increased activity:serum (human) 2493 Ace angiotensin I converting enzyme gene DOID:9744 type 1 diabetes mellitus disease progression ISO RGD:737323 D RGD:7829799|PMID:9025006 20140124 RGD DNA:deletion:intron:IVS16+1464-1751del (human) 2493 Ace angiotensin I converting enzyme gene DOID:9775 diastolic heart failure severity ISO RGD:737323 D RGD:40400704|PMID:19752885 20201102 RGD DNS:insertion/deletion:intron: (rs1799752) 2493 Ace angiotensin I converting enzyme gene DOID:9775 diastolic heart failure susceptibility ISO RGD:737323 D RGD:40400906|PMID:19021695 20201105 RGD DNA:insertion/deletion:intron 16: 2493 Ace angiotensin I converting enzyme gene DOID:9775 diastolic heart failure treatment IMP D RGD:40400723|PMID:14757777 20201103 RGD 2493 Ace angiotensin I converting enzyme gene DOID:988 mitral valve prolapse ISO RGD:737323 D RGD:1331525|PMID:15118671 19990101 GAD 2493 Ace angiotensin I converting enzyme gene DOID:988 mitral valve prolapse severity ISO RGD:737323 D RGD:13432357|PMID:17379330 20170927 RGD associated with Marfan Syndrome;DNA:polymorphism,haplotype: 2493 Ace angiotensin I converting enzyme gene DOID:9970 obesity IEP D RGD:2325227|PMID:19361967 20100526 RGD protein:increased expression:liver 2493 Ace angiotensin I converting enzyme gene DOID:9970 obesity no_association ISO RGD:737323 D RGD:1601115|PMID:17164796 20070406 RGD 2494 Ddc dopa decarboxylase gene DOID:0050771 pheochromocytoma ISO RGD:734177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 2494 Ddc dopa decarboxylase gene DOID:0080855 Parkinsonism ISO RGD:734177 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16269145 2494 Ddc dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:7240710 20130221 OMIM 2494 Ddc dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase PMID:1357595|PMID:14991824|PMID:15079002|PMID:16199547|PMID:17240182|PMID:17533144|PMID:17576681|PMID:18567514|PMID:20505134|PMID:21541720|PMID:22143761|PMID:23321058|PMID:23430870|PMID:24037885|PMID:24788355|PMID:24865461|PMID:25001633|PMID:25741868|PMID:25956449|PMID:26994895|PMID:27147232|PMID:28492532|PMID:28556607|PMID:28856607|PMID:28924877|PMID:28973165|PMID:29356298|PMID:29851841|PMID:30144970|PMID:30952622|PMID:31104889|PMID:31130284|PMID:31607746|PMID:31703131|PMID:31849064|PMID:31918669|PMID:31953134|PMID:31975548|PMID:32111562|PMID:32369189|PMID:32409695|PMID:33734312|PMID:33808712|PMID:9536098|PMID:9789536 2494 Ddc dopa decarboxylase gene DOID:10762 portal hypertension IEP D RGD:5129683|PMID:18457899 20110405 RGD mRNA:decreased expression:superior mesenteric artery (rat) 2494 Ddc dopa decarboxylase gene DOID:1184 nephrotic syndrome IEP D RGD:5129145|PMID:16204272 20110324 RGD protein:decreased activity:renal cortex (rat) 2494 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease IEP D RGD:5129231|PMID:15935614 20110329 RGD protein:altered expression:arcuate nucleus ((rat) 2494 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease IMP D RGD:4139893|PMID:12703659 20110324 RGD 2494 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2969953|PMID:11445284 2494 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:5129121|PMID:9853519 20110324 RGD human gene in a rat model 2494 Ddc dopa decarboxylase gene DOID:150 disease of mental health ISO RGD:734177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2969953 2494 Ddc dopa decarboxylase gene DOID:2018 hyperinsulinism ISO RGD:734177 D RGD:5129140|PMID:16403819 20110324 RGD protein:increased expression:pancreatic beta cell (human) 2494 Ddc dopa decarboxylase gene DOID:3312 bipolar disorder ISO RGD:734177 D RGD:1358586|PMID:12555230 19990101 RGD DNA:deletions:5' utr, intron:g.-601delG, g.722_725delGAGA (human) 2494 Ddc dopa decarboxylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734177 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2494 Ddc dopa decarboxylase gene DOID:630 genetic disease ISO RGD:734177 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15079002|PMID:17576681|PMID:24788355|PMID:28492532|PMID:32111562|PMID:9536098 2494 Ddc dopa decarboxylase gene DOID:655 inherited metabolic disorder ISO RGD:734177 D RGD:5128849|PMID:20505134 20070329 RGD AADC deficiency, OMIM:608643; DNA:point mutations:cds:multiple (human) 2494 Ddc dopa decarboxylase gene DOID:783 end stage renal disease IEP D RGD:5128880|PMID:19167406 20110322 RGD protein:altered activity:renal cortex (rat) 2494 Ddc dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5129683|PMID:18457899 20110405 RGD mRNA:decreased expression:superior mesenteric artery (rat) 2494 Ddc dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2494 Ddc dopa decarboxylase gene DOID:9002955 Nerve Degeneration ISO RGD:734177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 2494 Ddc dopa decarboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:734177 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 2494 Ddc dopa decarboxylase gene DOID:9008394 Drug-Induced Dyskinesia IEP D RGD:5128860|PMID:20232137 20110322 RGD associated with Parkinson Disease; protein:decreased expression:striatum (rat) 2497 Ddn dendrin gene DOID:630 genetic disease ISO RGD:1345220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2498 Cfd complement factor D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736531 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 2498 Cfd complement factor D gene DOID:10320 asbestosis ISO RGD:736531 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 2498 Cfd complement factor D gene DOID:1556 arthus reaction IDA D RGD:1624328|PMID:10605043 20070509 RGD 2498 Cfd complement factor D gene DOID:289 endometriosis ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2498 Cfd complement factor D gene DOID:2921 glomerulonephritis ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14675043 2498 Cfd complement factor D gene DOID:3770 pulmonary fibrosis ISO RGD:736531 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 2498 Cfd complement factor D gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 2498 Cfd complement factor D gene DOID:5119 ovarian cyst ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 2498 Cfd complement factor D gene DOID:5339 cyclic hematopoiesis ISO RGD:736531 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 2498 Cfd complement factor D gene DOID:6000 congestive heart failure ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 2498 Cfd complement factor D gene DOID:612 primary immunodeficiency disease ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11457876|PMID:16527897 2498 Cfd complement factor D gene DOID:630 genetic disease ISO RGD:736531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2498 Cfd complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:7240710 20141015 OMIM 2498 Cfd complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement factor d deficiency PMID:11457876|PMID:25741868 2498 Cfd complement factor D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2498 Cfd complement factor D gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1624344|PMID:8372111 20070509 RGD protein:decreased expression:serum 2498 Cfd complement factor D gene DOID:9008366 Meningococcal Infections ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16527897 2498 Cfd complement factor D gene DOID:9008538 Neisseriaceae Infections ISO RGD:736531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11457876 2498 Cfd complement factor D gene DOID:9970 obesity IEP D RGD:1624327|PMID:2197880 20070509 RGD mRNA, protein:decreased expression:adipocyte, serum 2498 Cfd complement factor D gene DOID:9970 obesity ISO RGD:736531 D RGD:1624324|PMID:14564690 20070509 RGD 2499 Dgkg diacylglycerol kinase, gamma gene DOID:630 genetic disease ISO RGD:733742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2500 Dhfr dihydrofolate reductase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:736871 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:28492532 2500 Dhfr dihydrofolate reductase gene DOID:12450 pancytopenia ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21310276 2500 Dhfr dihydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597297 2500 Dhfr dihydrofolate reductase gene DOID:1324 lung cancer ISO RGD:736871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:28492532 2500 Dhfr dihydrofolate reductase gene DOID:13382 megaloblastic anemia ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 2500 Dhfr dihydrofolate reductase gene DOID:14026 folic acid deficiency anemia ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21310277 2500 Dhfr dihydrofolate reductase gene DOID:2871 endometrial carcinoma ISO RGD:736871 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868 2500 Dhfr dihydrofolate reductase gene DOID:3347 osteosarcoma ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 2500 Dhfr dihydrofolate reductase gene DOID:4435 cavernous sinus meningioma ISO RGD:736871 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:26467025|PMID:31371350|PMID:31627758 2500 Dhfr dihydrofolate reductase gene DOID:630 genetic disease ISO RGD:736871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2500 Dhfr dihydrofolate reductase gene DOID:655 inherited metabolic disorder ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 2500 Dhfr dihydrofolate reductase gene DOID:684 hepatocellular carcinoma ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:28492532 2500 Dhfr dihydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 2500 Dhfr dihydrofolate reductase gene DOID:863 nervous system disease ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:21310277 2500 Dhfr dihydrofolate reductase gene DOID:8692 myeloid leukemia ISO RGD:10471 D RGD:11039541|PMID:12649191 20160307 RGD 2500 Dhfr dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 2500 Dhfr dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis disease_progression IEP D RGD:11040442|PMID:8149482 20160308 RGD 2500 Dhfr dihydrofolate reductase gene DOID:9003281 Spontaneous Abortions ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2500 Dhfr dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:11039540|PMID:21310277 20160307 RGD DNA:mutation:c.458A>T(human) 2500 Dhfr dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:7240710 20141015 OMIM 2500 Dhfr dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:1060915|PMID:1099447|PMID:21310276|PMID:21310277|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758|PMID:6700662 2500 Dhfr dihydrofolate reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736871 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2500 Dhfr dihydrofolate reductase gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11040540|PMID:18408363 20160310 RGD mRNA,protein:decreased expression:kidney: 2500 Dhfr dihydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 2500 Dhfr dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:31371350|PMID:31627758|PMID:9536098 2500 Dhfr dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:9536098 2500 Dhfr dihydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 2500 Dhfr dihydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17519396 2500 Dhfr dihydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:736871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 2500 Dhfr dihydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:736871 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:28188287 2500 Dhfr dihydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736871 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 2500 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736871 D RGD:11039543|PMID:9226157 20160307 RGD 2500 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:11039542|PMID:19861437 20160307 RGD DNA:polymorphisms, haplotype:promoter: 2500 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:11039544|PMID:22969948 20160307 RGD DNA:polymorphisms: :-317A>G, 829C>T (human) 2500 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:11039545|PMID:12972803 20160307 RGD 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:0060076 estrogen-receptor negative breast cancer disease_progression ISO RGD:731731 D RGD:11040536|PMID:26351264 20160310 RGD 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:1059 intellectual disability ISO RGD:731731 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:1599771|PMID:11295830 20070214 RGD DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:731731 D RGD:11040537|PMID:25225034 20160310 RGD DNA:polymporhism:(rs8190370)(human) 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:630 genetic disease ISO RGD:731731 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18318771|PMID:21349748|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9886302 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:9000781 Cyanosis ISO RGD:731731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:11040533|PMID:21349748 20160310 RGD DNA:mutations:exons,3'UTR: 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:7240710 20130221 OMIM 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: Methemoglobinemia, type I | ClinVar Annotator: match by term: NADH methemoglobin reductase deficiency PMID:10807796|PMID:10874300|PMID:11159544|PMID:11295830|PMID:12393396|PMID:12756024|PMID:1400360|PMID:15921385|PMID:15953014|PMID:16199547|PMID:16310381|PMID:16748235|PMID:1707593|PMID:18318771|PMID:1898726|PMID:19062529|PMID:2107882|PMID:21349748|PMID:22627575|PMID:23866629|PMID:24033266|PMID:24266649|PMID:25058800|PMID:25741868|PMID:27879543|PMID:28492532|PMID:29482478|PMID:3680497|PMID:4063522|PMID:7668255|PMID:7718898|PMID:8119939|PMID:8427971|PMID:9266404|PMID:9695975 2502 Cyb5r3 cytochrome b5 reductase 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:731731 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:735868 D RGD:5135003|PMID:11679176 20110708 RGD DNA:SNP:exon:609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:10473 D RGD:11035221|PMID:23056222 20160211 RGD associated with Ureteral Obstruction 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:735868 D RGD:10769356|PMID:23643325 20160210 RGD DNA:missense mutation:cds:609C>T (p.P187S) (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735868 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10473 D RGD:10769354|PMID:18829548 20160210 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070355 overactive bladder syndrome treatment IEP D RGD:13434913|PMID:28954467 20171006 RGD associated with Spinal Cord Injuries 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735868 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:13434914|PMID:28932253 20171006 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080666 warfarin sensitivity ISO RGD:735868 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:10763 hypertension treatment IDA D RGD:11035215|PMID:21502369 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:10976 membranous glomerulonephritis treatment IDA D RGD:13439719|PMID:28711658 20171012 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer treatment IDA D RGD:10401939|PMID:21213404 20160210 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:11832 visual epilepsy IEP D RGD:5133254|PMID:14991562 20110609 RGD protein:increased activity:brain 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia ISO RGD:735868 D RGD:10769349|PMID:11222389 20160210 RGD DNA:mutation: :609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia ISO RGD:735868 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Leukemia, post-chemotherapy, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia no_association ISO RGD:735868 D RGD:10769351|PMID:15382274 20160210 RGD DNA:SNP: :609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12588957 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1289 neurodegenerative disease treatment IEP D RGD:13439721|PMID:28620296 20171012 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment IEP D RGD:13439750|PMID:28337145 20171017 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:14330 Parkinson's disease ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17188257 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8375015 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:14654 prostatitis treatment IEP D RGD:13434918|PMID:28844677 20171006 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1596 depressive disorder treatment IEP D RGD:13439713|PMID:28763303 20171011 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1612 breast cancer IEP D RGD:13440090|PMID:28264783 20171018 RGD mRNA, protein:decreased expression, decreased activity:liver (rat) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1612 breast cancer ISO RGD:735868 D RGD:10769361|PMID:23897704 20160210 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1612 breast cancer ISO RGD:735868 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1824 status epilepticus treatment IEP D RGD:13439740|PMID:28386312 20171016 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:219 colon cancer IDA D RGD:5133247|PMID:19424637 20110608 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:13439727|PMID:28552673 20171013 RGD protein:increased expression:brain (rat) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:13442499|PMID:28169530 20171106 RGD protein:increased expression:cerebral cortex (rat) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13439718|PMID:29017857 20171012 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2615 papilloma ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2773 contact dermatitis ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20049212 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:5135006|PMID:19027876 20110708 RGD DNA:SNP:exon:c. 609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma susceptibility ISO RGD:735868 D RGD:5135005|PMID:19591959 20110708 RGD DNA:SNP:exon:c.609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26723870 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure treatment IEP D RGD:13440091|PMID:28230744 20171018 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735868 D RGD:5134980|PMID:18556627 20110707 RGD protein, mRNA:decreased expression:lung 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735868 D RGD:5133267|PMID:19705749 20110610 RGD DNA:polymorphisms: :465C>T, 609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13439712|PMID:28790194 20171011 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:5133239|PMID:21120604 20110608 RGD protein:increased expression:brain 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:11035212|PMID:25069640 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3602 toxic encephalopathy ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20849151 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3905 lung carcinoma ISO RGD:735868 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9865924|PMID:21479364 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:5133268|PMID:19596483 20110610 RGD DNA:polymorphism:cds: 609 C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735868 D RGD:5133265|PMID:21479364 20110610 RGD DNA:polymorphism: : 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3996 urinary system cancer ISO RGD:735868 D RGD:2301044|PMID:17619904 20080923 RGD Urothelial neoplasms 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:409 liver disease ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16610002|PMID:17405841 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23458895 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:4448 macular degeneration ISO RGD:735868 D RGD:7771558|PMID:23276910 20151120 RGD DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:5082 liver cirrhosis treatment IDA D RGD:13442479|PMID:29078262 20171102 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:5199 ureteral obstruction IEP D RGD:5133246|PMID:20734248 20110608 RGD mRNA:increased expression:kidney 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:557 kidney disease ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21613233 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:735868 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:784 chronic kidney disease treatment IDA D RGD:10769366|PMID:22227174 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:850 lung disease susceptibility ISO RGD:735868 D RGD:5134962|PMID:19017358 20110706 RGD acute lung injuries;DNA:SNP: :rs689455 (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735868 D RGD:10769357|PMID:16235982 20160210 RGD DNA:SNP: :609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:8692 myeloid leukemia ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11882782 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13434916|PMID:28881715 20171006 RGD protein:increased expression:spinal cord (rat) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:10412730|PMID:24747453 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000046 Poisoning ISO RGD:735868 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Benzene toxicity, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000310 Lung Injury IEP D RGD:13442477|PMID:27888691 20171102 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:lung (rat) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:5133235|PMID:21259333 20110608 RGD mRNA, protein:increased expression:brain 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries IEP D RGD:5134971|PMID:18787991 20110707 RGD mRNA:increased expression:lung 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries treatment IEP D RGD:11035222|PMID:20864352 20160211 RGD associated with Subarachnoid Hemorrhage 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:13442478|PMID:27867096 20171102 RGD mRNA, protein:increased expression:liver (rat) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:11035226|PMID:21457706 20160211 RGD associated with Diabetes Mellitus, Experimental 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9496914|PMID:21034357 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:10473 D RGD:11073695|PMID:16905546 20160503 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002676 Cerebral Hemorrhage treatment IEP D RGD:13442476|PMID:29050310 20171102 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:735868 D RGD:10769356|PMID:23643325 20160210 RGD associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003709 Mercury Poisoning treatment IEP D RGD:13439738|PMID:28498799 20171016 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10473 D RGD:10769360|PMID:16678022 20160210 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004610 Acute Lung Injury treatment IDA D RGD:13442501|PMID:28065220 20171106 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:11035223|PMID:24669282 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment IEP D RGD:11035227|PMID:22990325 20160211 RGD associated with Hypertension 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment IEP D RGD:11035220|PMID:23684718 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735868 D RGD:10769350|PMID:12018106 20160210 RGD DNA:SNP: :609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:5134963|PMID:18798003 20110706 RGD DNA:polymorphism:cds: 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:5134987|PMID:15781212 20110707 RGD DNA:polymorphism: : 609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005463 Occupational Diseases ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9230185|PMID:15576619|PMID:15727169|PMID:17178637 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23458895 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment IEP D RGD:11035224|PMID:22359633 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:11035217|PMID:21545725 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:6771212|PMID:21781312 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IDA D RGD:13439737|PMID:28522909 20171016 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10473 D RGD:13439739|PMID:28472605 20171016 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007480 Hyperoxia IDA D RGD:11035211|PMID:21551015 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:13440093|PMID:28382390 20171018 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008217 Hemorrhage ISO RGD:735868 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20593958 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008914 Lead Poisoning treatment IEP D RGD:13440092|PMID:28178683 20171018 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18511948 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735868 D RGD:10769358|PMID:19456854 20160210 RGD DNA:SNP: :609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:916 liver benign neoplasm IEP D RGD:11035219|PMID:24418717 20160211 RGD 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9452 fatty liver disease IEP D RGD:5133249|PMID:17721935 20110608 RGD protein:increased activity:liver 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:10769348|PMID:18156703 20160210 RGD DNA:missense mutation:cds:p.P187S (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:735868 D RGD:10755419|PMID:18061666 20160210 RGD DNA:missense mutation:cds:p.P187S (609C>T) (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:735868 D RGD:5134973|PMID:18559366 20110707 RGD mRNA:decreased expression:lung 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:10769347|PMID:18444911 20160210 RGD DNA:mutation: :609C>T (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:10769359|PMID:11774269 20160210 RGD DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:11774269|PMID:17332311 2503 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9970 obesity ISO RGD:735868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17405841 2504 Dio1 iodothyronine deiodinase 1 gene DOID:2855 hyperthyroxinemia ISO RGD:735269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3346351 2504 Dio1 iodothyronine deiodinase 1 gene DOID:50 thyroid gland disease ISO RGD:735269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 2504 Dio1 iodothyronine deiodinase 1 gene DOID:630 genetic disease ISO RGD:735269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2504 Dio1 iodothyronine deiodinase 1 gene DOID:655 inherited metabolic disorder ISO RGD:735269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 2504 Dio1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:7240710 20220427 OMIM 2504 Dio1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 2 PMID:32718224 2504 Dio1 iodothyronine deiodinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2504 Dio1 iodothyronine deiodinase 1 gene DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:727335|PMID:11765219 19990101 RGD 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:731903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:731903 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:14330 Parkinson's disease IEP D RGD:2306834|PMID:15703272 20090507 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731903 D RGD:2306813|PMID:14871824 20090507 RGD DNA:mutation:CDS:multiple nonsynonymous mutations (human) 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:5419 schizophrenia ISO RGD:731903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12421351|PMID:18665322|PMID:20691406 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:5419 schizophrenia ISO RGD:731903 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:630 genetic disease ISO RGD:731903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:674 cleft palate ISO RGD:731903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11238884 2505 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731903 D RGD:9068941 20200609 RGD protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis PMID:15221964|REF_RGD_ID:2306812 2506 Dlx5 distal-less homeobox 5 gene DOID:0080006 bone development disease ISO RGD:733723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10433909 2506 Dlx5 distal-less homeobox 5 gene DOID:0090020 split hand-foot malformation ISO RGD:733723 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism 2506 Dlx5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:7240710 20200520 OMIM 2506 Dlx5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 PMID:24496061|PMID:25196357 2506 Dlx5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:7240710 20131030 OMIM 2506 Dlx5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss PMID:22121204 2506 Dlx5 distal-less homeobox 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733723 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2506 Dlx5 distal-less homeobox 5 gene DOID:630 genetic disease ISO RGD:733723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2506 Dlx5 distal-less homeobox 5 gene DOID:9003996 Birth Weight ISO RGD:733723 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 2506 Dlx5 distal-less homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10433909|PMID:10433912|PMID:14666512 2507 Dmd dystrophin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736976 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:0050451 Brugada syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17440445|PMID:18340010|PMID:20675662 2507 Dmd dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 2507 Dmd dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32194622|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 2507 Dmd dystrophin gene DOID:0060260 ptosis ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ptosis PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 2507 Dmd dystrophin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736976 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2507 Dmd dystrophin gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 2507 Dmd dystrophin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 2507 Dmd dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:7240710 20220831 OMIM 2507 Dmd dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:10094565|PMID:10909857|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16077730|PMID:16199547|PMID:1644931|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21851881|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23352160|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26968818|PMID:26990548|PMID:27122458|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27930565|PMID:28116794|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:32559196|PMID:33144682|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7825571|PMID:7881286|PMID:8123157|PMID:8281150|PMID:8301652|PMID:8361506|PMID:8589698|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849|PMID:9683584 2507 Dmd dystrophin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 2507 Dmd dystrophin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:34103343 2507 Dmd dystrophin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532|PMID:34103343 2507 Dmd dystrophin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11710958|PMID:19760747|PMID:24033266|PMID:25007885|PMID:25741868|PMID:26467025|PMID:26743743|PMID:28492532|PMID:7599634|PMID:7849724 2507 Dmd dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:7240710 20140813 OMIM 2507 Dmd dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23352160|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26990548|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27896284|PMID:27930565|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7881286|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849 2507 Dmd dystrophin gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:1059 intellectual disability ISO RGD:736976 D RGD:12879885|PMID:23900271 20170428 RGD DNA:deletion:cds:c.9711_9713del (p.L3238del)(human) 2507 Dmd dystrophin gene DOID:11612 polycystic ovary syndrome ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy IMP D RGD:11040981|PMID:25005781 20170428 RGD 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy IMP D RGD:12880034|PMID:25310701 20170502 RGD 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:10479 D RGD:12880014|PMID:22810924 20170501 RGD 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:10479 D RGD:737706|PMID:9288751 20150213 RGD 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:10939566|PMID:11409421|PMID:12966700|PMID:14751810|PMID:16122626|PMID:19309154|PMID:21273767|PMID:23297412|PMID:24349043|PMID:26930420|PMID:29404407|PMID:30074247|PMID:32955503|PMID:33025945|PMID:33285037 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:12879862|PMID:23975932 20170428 RGD mRNA:decreased stability:muscle 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:1580859|PMID:3055295 19990101 RGD 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:7240710 20140813 OMIM 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14641995|PMID:14659407|PMID:14695533|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16917894|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:2316519|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27263301|PMID:27350676|PMID:27363342|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:28318817|PMID:28332368|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31708335|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35165973|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8628480|PMID:8789442|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9800909 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17680544|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25348330|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878337|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31302907|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33250842|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34268379|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8817332|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 2507 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:736976 D RGD:12880007|PMID:24010700 20170501 RGD 2507 Dmd dystrophin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19937601|PMID:19959795|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 2507 Dmd dystrophin gene DOID:12849 autistic disorder ISO RGD:736976 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy IMP D RGD:12880034|PMID:25310701 20170502 RGD 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11496434 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:13702900|PMID:19194174 20180723 RGD 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:1580858|PMID:12359139 19990101 RGD 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196|PMID:34103343 2507 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy severity ISO RGD:736976 D RGD:6771365|PMID:20373002 20120730 RGD mRNA, protein:decreased expression:myocardium 2507 Dmd dystrophin gene DOID:13399 color blindness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:16199547|PMID:16770791|PMID:19937601|PMID:25007885|PMID:27234031|PMID:28492532|PMID:30827497|PMID:34106991 2507 Dmd dystrophin gene DOID:1561 cognitive disorder severity ISO RGD:736976 D RGD:12879884|PMID:24265581 20170428 RGD DNA:deletion:promoter,start site: 2507 Dmd dystrophin gene DOID:182 calcinosis ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 2507 Dmd dystrophin gene DOID:1824 status epilepticus IEP D RGD:5148023|PMID:20886625 20120322 RGD protein:decreased expression:piriform cortex 2507 Dmd dystrophin gene DOID:1824 status epilepticus ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 2507 Dmd dystrophin gene DOID:1882 atrial heart septal defect ISO RGD:736976 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 2507 Dmd dystrophin gene DOID:1967 leiomyosarcoma ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 2507 Dmd dystrophin gene DOID:2843 long QT syndrome ISO RGD:736976 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:18583217|PMID:24033266|PMID:24690944|PMID:25741868|PMID:26467025|PMID:28492532 2507 Dmd dystrophin gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 2507 Dmd dystrophin gene DOID:397 restrictive cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:14695533|PMID:15643612|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 2507 Dmd dystrophin gene DOID:423 myopathy ISO RGD:736976 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 2507 Dmd dystrophin gene DOID:4724 brain edema IDA D RGD:6771363|PMID:22338606 20120730 RGD associated with Status Epilepticus 2507 Dmd dystrophin gene DOID:5419 schizophrenia ISO RGD:736976 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2507 Dmd dystrophin gene DOID:6000 congestive heart failure ISO RGD:736976 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:630 genetic disease ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343|PMID:9536098 2507 Dmd dystrophin gene DOID:767 muscular atrophy IEP D RGD:625642|PMID:12107060 20161006 RGD 2507 Dmd dystrophin gene DOID:767 muscular atrophy ISO RGD:736976 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 2507 Dmd dystrophin gene DOID:820 myocarditis ISO RGD:10479 D RGD:13702901|PMID:15917272 20180723 RGD associated with Duchenne muscular dystrophy 2507 Dmd dystrophin gene DOID:83 cataract disease_progression ISO RGD:10479 D RGD:12879865|PMID:25489223 20170428 RGD 2507 Dmd dystrophin gene DOID:8466 retinal degeneration disease_progression IEP D RGD:1300412|PMID:10359335 20170502 RGD 2507 Dmd dystrophin gene DOID:9000373 Muscle Cramp ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle cramps PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 2507 Dmd dystrophin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736976 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19937601|PMID:28492532 2507 Dmd dystrophin gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 2507 Dmd dystrophin gene DOID:9000965 Neoplasm Metastasis ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 2507 Dmd dystrophin gene DOID:9001510 Funnel Chest ISO RGD:736976 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 2507 Dmd dystrophin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:9002833 Exertional Myalgia, Muscle Stiffness and Myoglobinuria ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343 2507 Dmd dystrophin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:9003139 Cardiac Fibrosis IMP D RGD:12880034|PMID:25310701 20170502 RGD 2507 Dmd dystrophin gene DOID:9003163 Heart Block ISO RGD:736976 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CYP21 deficiency PMID:24033266|PMID:25741868|PMID:28492532 2507 Dmd dystrophin gene DOID:9003936 Cardiomegaly ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23297412 2507 Dmd dystrophin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736976 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2507 Dmd dystrophin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 2507 Dmd dystrophin gene DOID:9004866 Ataxia ISO RGD:736976 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:30074247 2507 Dmd dystrophin gene DOID:9005532 Muscle Weakness ISO RGD:736976 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:26930420|PMID:30074247 2507 Dmd dystrophin gene DOID:9005532 Muscle Weakness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 2507 Dmd dystrophin gene DOID:9005749 Necrosis ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 2507 Dmd dystrophin gene DOID:9006205 Animal Disease Models ISO RGD:736976 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:22795790|PMID:26930420|PMID:30074247 2507 Dmd dystrophin gene DOID:9006743 Spasm ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 2507 Dmd dystrophin gene DOID:9007039 Ventricular Dysfunction ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21273767 2507 Dmd dystrophin gene DOID:9007090 Experimental Seizures IEP D RGD:12880363|PMID:9539217 20170503 RGD 2507 Dmd dystrophin gene DOID:9007993 Dehydration IEP D RGD:12880360|PMID:9858364 20170503 RGD protein:decreased expression:neurohypophysial lobe: 2507 Dmd dystrophin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 2507 Dmd dystrophin gene DOID:9256 colorectal cancer ISO RGD:736976 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2507 Dmd dystrophin gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736976 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 2507 Dmd dystrophin gene DOID:930 orbital disease ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exophthalmos PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 2507 Dmd dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:7240710 20180228 OMIM 2507 Dmd dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:10094565|PMID:10320864|PMID:10464635|PMID:1047858|PMID:10533061|PMID:10832829|PMID:10909857|PMID:11039581|PMID:11053684|PMID:11241855|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12233050|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12522557|PMID:12632325|PMID:12754707|PMID:13679720|PMID:14659407|PMID:14695533|PMID:14973546|PMID:15253946|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:15723292|PMID:1577476|PMID:15952989|PMID:16049303|PMID:16199547|PMID:1632439|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:1757094|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18846679|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19530190|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19937601|PMID:19959795|PMID:1996328|PMID:20098710|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21681106|PMID:21851881|PMID:21969337|PMID:21972111|PMID:22223181|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23453023|PMID:23536893|PMID:23588064|PMID:23756440|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25741868|PMID:25761239|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26743743|PMID:2677830|PMID:26911353|PMID:26934379|PMID:26968818|PMID:27122458|PMID:27178005|PMID:27263301|PMID:27363342|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29188604|PMID:29196072|PMID:29365344|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30342905|PMID:30467404|PMID:30833962|PMID:31081998|PMID:31127727|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31708335|PMID:31727011|PMID:31983221|PMID:32047267|PMID:32194622|PMID:32419263|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32969603|PMID:33101180|PMID:33106653|PMID:33420945|PMID:33644936|PMID:33829027|PMID:3393617|PMID:34008892|PMID:35135626|PMID:36409343|PMID:7041906|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7951253|PMID:7981690|PMID:8279470|PMID:8281150|PMID:8301652|PMID:8322822|PMID:8401537|PMID:8504498|PMID:8789442|PMID:8840119|PMID:9067763|PMID:9170407|PMID:9410897|PMID:9536098|PMID:9544849|PMID:9805122 2507 Dmd dystrophin gene DOID:9884 muscular dystrophy ISO RGD:736976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10797403|PMID:17440445|PMID:20805873|PMID:22906800 2507 Dmd dystrophin gene DOID:9884 muscular dystrophy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10465346|PMID:11185740|PMID:1549142|PMID:16030524|PMID:16770791|PMID:18752307|PMID:19449031|PMID:20031633|PMID:20301298|PMID:2063877|PMID:23299919|PMID:24033266|PMID:24135430|PMID:25007885|PMID:25244321|PMID:25741868|PMID:28492532|PMID:9327405 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:736576 D RGD:8554872 20180424 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISS RGD:736577 D RGD:13592920 20180518 MouseDO OMIM:241520 | OMIM:613312 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736576 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:736576 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:24033266|PMID:25741868|PMID:35738466 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:7240710 20130221 OMIM 2508 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 PMID:16199547|PMID:16294270|PMID:17033621|PMID:17033625|PMID:17576681|PMID:19007919|PMID:21050253|PMID:25741868|PMID:28492532|PMID:9536098 2510 Dnase1 deoxyribonuclease 1 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:736197 D RGD:38500241|PMID:28263100 20200812 RGD protein:decreased activity:serum (human) 2510 Dnase1 deoxyribonuclease 1 gene DOID:0080205 CAKUT ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 2510 Dnase1 deoxyribonuclease 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736197 D RGD:38500241|PMID:28263100 20200812 RGD protein:decreased activity:serum (human) 2510 Dnase1 deoxyribonuclease 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736197 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 2510 Dnase1 deoxyribonuclease 1 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:736197 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 2510 Dnase1 deoxyribonuclease 1 gene DOID:1682 congenital heart disease ISO RGD:736197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 2510 Dnase1 deoxyribonuclease 1 gene DOID:1826 epilepsy ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:2048 autoimmune hepatitis ISO RGD:736197 D RGD:38500241|PMID:28263100 20200812 RGD protein:decreased activity:serum (human) 2510 Dnase1 deoxyribonuclease 1 gene DOID:3459 breast carcinoma ISO RGD:736197 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:576 proteinuria ISO RGD:736197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 2510 Dnase1 deoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:736197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2510 Dnase1 deoxyribonuclease 1 gene DOID:9005700 Airway Obstruction ISO RGD:736197 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 2510 Dnase1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736197 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2510 Dnase1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736197 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10835632|PMID:11479590|PMID:15333586|PMID:18486922|PMID:24206041|PMID:25741868 2510 Dnase1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736197 D RGD:7240710 20230505 OMIM 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050453 lissencephaly ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:16199547|PMID:23603762|PMID:25140959|PMID:25326635|PMID:25609763|PMID:25741868|PMID:28135719|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351274 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050781 Ogden syndrome ISO RGD:1351274 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:25741868 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:1351274 D RGD:11554173 20180710 CTD CTD Direct Evidence: marker/mechanism 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:7240710 20140911 OMIM 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29286531|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070348 spinal muscular atrophy with predominant lower extremity ISO RGD:1351274 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance PMID:23664120|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:29671837|PMID:32788638 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:7240710 20180704 OMIM 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:10862709|PMID:12730604|PMID:17576681|PMID:18414213|PMID:20697106|PMID:21102439|PMID:21820100|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26392352|PMID:26467025|PMID:26846447|PMID:27331017|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29379136|PMID:30122514|PMID:30168217|PMID:30687093|PMID:31364990|PMID:31618753|PMID:9536098 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0080067 Charcot-Marie-Tooth disease type 5 ISO RGD:1351274 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1351274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:7240710 20140911 OMIM 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:10862709|PMID:15826937|PMID:16199547|PMID:16519653|PMID:17576681|PMID:18414213|PMID:19074350|PMID:20301532|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25140959|PMID:25326635|PMID:25363760|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26846447|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554332|PMID:28554554|PMID:28602352|PMID:28783747|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29379136|PMID:29653220|PMID:29671837|PMID:30031633|PMID:30122514|PMID:30168217|PMID:30504930|PMID:30687093|PMID:31127727|PMID:31164858|PMID:31278258|PMID:31364990|PMID:31372974|PMID:31618753|PMID:31680123|PMID:32238909|PMID:32376792|PMID:32656949|PMID:32788638|PMID:32947049|PMID:35099838|PMID:9536098|PMID:9781046 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:12730604|PMID:20697106|PMID:21102439|PMID:22459677|PMID:23664120|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:27549087|PMID:28492532|PMID:28554554|PMID:29671837|PMID:32788638 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1351274 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351274 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23603762|PMID:25741868|PMID:26100331|PMID:26392352|PMID:26467025|PMID:28166811|PMID:28196890|PMID:28492532|PMID:29671837 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:23603762|PMID:25741868|PMID:26100331|PMID:26467025|PMID:28196890|PMID:28492532|PMID:29671837|PMID:31164858 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:18414213|PMID:21820100|PMID:22847149|PMID:24033266|PMID:24136616|PMID:25025039|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29379136|PMID:30504930|PMID:9536098 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10652 Alzheimer's disease ISO RGD:1351274 D RGD:13207349|PMID:9402150 20170726 RGD protein:increased expression:brain 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10907 microcephaly ISO RGD:1351274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25512093|PMID:28492532 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1389 polyneuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:28492532 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17576681|PMID:18414213|PMID:24033266|PMID:24136616|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:27066557|PMID:28492532|PMID:30031633|PMID:30504930|PMID:9536098 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1826 epilepsy ISO RGD:1351274 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29671837|PMID:33818783 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351274 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351274 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:423 myopathy ISO RGD:1351274 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862709|PMID:11250194|PMID:15826937|PMID:16519653|PMID:17576681|PMID:18414213|PMID:18466635|PMID:19074350|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22398446|PMID:22426545|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25363760|PMID:25417161|PMID:25470043|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25533962|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29653220|PMID:30031633|PMID:301071|PMID:30122514|PMID:31164858|PMID:31372974|PMID:32238909|PMID:9536098|PMID:9781046 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:870 neuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:18414213|PMID:24033266|PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9005532 Muscle Weakness ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:25741868|PMID:28492532|PMID:32656949 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351274 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 2511 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:27754416|PMID:28492532|PMID:29286531 2512 Dync1i1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734329 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2512 Dync1i1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:734329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 2512 Dync1i1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:734329 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:730970 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:0080307 myofibrillar myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:25741868|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:7240710 20130221 OMIM 2513 Dnm2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17932957|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23338057|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27698851|PMID:27854218|PMID:28166811|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:32528171|PMID:32860008|PMID:33333461|PMID:34008892|PMID:9536098 2513 Dnm2 dynamin 2 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 2513 Dnm2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:7240710 20130221 OMIM 2513 Dnm2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:17932957|PMID:18414213|PMID:20227276|PMID:20700106|PMID:22396310|PMID:23338057|PMID:24135484|PMID:25741868|PMID:25957634|PMID:26199319|PMID:28492532|PMID:32860008 2513 Dnm2 dynamin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15731758|PMID:16227997|PMID:17636067|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:21762456|PMID:22091729|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:27328317|PMID:28492532|PMID:28676641 2513 Dnm2 dynamin 2 gene DOID:11252 microcytic anemia ISS RGD:730971 D RGD:13592920 20221117 MouseDO OMIM:206200 2513 Dnm2 dynamin 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:730970 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:14717 centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:28676641|PMID:32860008 2513 Dnm2 dynamin 2 gene DOID:14717 centronuclear myopathy ISS RGD:730971 D RGD:13592920 20180726 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 2513 Dnm2 dynamin 2 gene DOID:2975 cystic kidney disease ISS RGD:730971 D RGD:13592920 20180518 MouseDO 2513 Dnm2 dynamin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:730970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism PMID:17376685 2513 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 2513 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 2513 Dnm2 dynamin 2 gene DOID:423 myopathy ISO RGD:730970 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16227997|PMID:17008356|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:423 myopathy ISS RGD:730971 D RGD:13592920 20210304 MouseDO 2513 Dnm2 dynamin 2 gene DOID:574 peripheral nervous system disease ISO RGD:730970 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:630 genetic disease ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:22730194|PMID:24215330|PMID:24728327|PMID:25214167|PMID:25501959|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28708278|PMID:30103202|PMID:30146126|PMID:33333461|PMID:9536098 2513 Dnm2 dynamin 2 gene DOID:870 neuropathy ISO RGD:730970 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:7240710 20140911 OMIM 2513 Dnm2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 PMID:23092955|PMID:25741868 2513 Dnm2 dynamin 2 gene DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:16227997|PMID:18414213|PMID:18560793|PMID:19502294|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:26467025|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28357347|PMID:28492532 2513 Dnm2 dynamin 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:736541 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:7240710 20140911 OMIM 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:17576681|PMID:18414213|PMID:19901254|PMID:23109149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33129689|PMID:9536098 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 2514 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:630 genetic disease ISO RGD:736541 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:0080599 Coronavirus infectious disease ISO RGD:737491 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:30626688 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:737491 D RGD:30309198|PMID:30626685 20200618 RGD 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISS RGD:10481 D RGD:13592920 20200416 MouseDO 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:0080642 Middle East respiratory syndrome severity ISO RGD:737491 D RGD:30309204|PMID:31838832 20200618 RGD 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737491 D RGD:30309959|PMID:30256968 20200626 RGD human gene in mouse model 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:12849 autistic disorder ISO RGD:737491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737491 D RGD:152600903|PMID:24789592 20220525 RGD protein:increased expression: esophagus 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:576 proteinuria ISO RGD:737491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:630 genetic disease ISO RGD:737491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10481 D RGD:2313699|PMID:19765579 20091009 RGD 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737491 D RGD:2313700|PMID:19705345 20091009 RGD 2515 Dpp4 dipeptidylpeptidase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10481 D RGD:2313702|PMID:19073764 20091009 RGD 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:10652 Alzheimer's disease ISO RGD:737388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:1229 paranoid schizophrenia ISO RGD:737388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17105906 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:1459 hypothyroidism IEP D RGD:2316251|PMID:11694350 20100202 RGD mRNA, protein:increased expression:thyroid gland 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:1824 status epilepticus treatment IEP D RGD:10045560|PMID:22761705 20150611 RGD 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:2316 brain ischemia IEP D RGD:2316241|PMID:19524114 20100202 RGD mRNA:increased expression:brain 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:630 genetic disease ISO RGD:737388 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:8398 osteoarthritis ISO RGD:737388 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2517 Dpysl2 dihydropyrimidinase-like 2 gene DOID:9000998 Brain Injuries IEP D RGD:2303056|PMID:17402852 20100202 RGD protein:increased degradation:cerebral cortex, hippocampus 2518 Drd1 dopamine receptor D1 gene DOID:0060001 withdrawal disorder IEP D RGD:7248622|PMID:20435100 20130813 RGD protein:increased expression:nucleus accumbens (rat) 2518 Drd1 dopamine receptor D1 gene DOID:0081292 traumatic brain injury treatment IEP D RGD:13506948|PMID:24047867 20180226 RGD 2518 Drd1 dopamine receptor D1 gene DOID:10652 Alzheimer's disease ISO RGD:70828 D RGD:5686412|PMID:17182012 20120123 RGD protein:decreased expression:frontal cortex, neuron 2518 Drd1 dopamine receptor D1 gene DOID:1074 kidney failure ISO RGD:70828 D RGD:7248447|PMID:19675531 20130806 RGD DNA:polymorphism:5' utr:g.-94G>A (human) 2518 Drd1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:10485 D RGD:1300303|PMID:8636408 19990101 RGD 2518 Drd1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:70828 D RGD:1580869|PMID:10948075 19990101 RGD 2518 Drd1 dopamine receptor D1 gene DOID:12849 autistic disorder ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18205172 2518 Drd1 dopamine receptor D1 gene DOID:12858 Huntington's disease IEP D RGD:2302117|PMID:18815258 20081119 RGD 2518 Drd1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:10485 D RGD:5686414|PMID:12111832 20120124 RGD 2518 Drd1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:10485 D RGD:7248682|PMID:16905556 20130815 RGD protein:decreased expression:cerebral cortex (mouse) 2518 Drd1 dopamine receptor D1 gene DOID:14330 Parkinson's disease IEP D RGD:7248455|PMID:16365282 20130806 RGD protein:decreased expression:striatum (rat) 2518 Drd1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8558425 2518 Drd1 dopamine receptor D1 gene DOID:14330 Parkinson's disease treatment IDA D RGD:7248595|PMID:23041629 20130809 RGD 2518 Drd1 dopamine receptor D1 gene DOID:1596 depressive disorder IEP D RGD:2311588|PMID:17558292 20130815 RGD mRNA:increased expression:caudate putamen (rat) 2518 Drd1 dopamine receptor D1 gene DOID:3227 tracheal stenosis IEP D RGD:7248613|PMID:21527662 20130813 RGD mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) 2518 Drd1 dopamine receptor D1 gene DOID:3312 bipolar disorder ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19153942 2518 Drd1 dopamine receptor D1 gene DOID:4195 hyperglycemia IEP D RGD:7248446|PMID:20339101 20130806 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat) 2518 Drd1 dopamine receptor D1 gene DOID:480 movement disease ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 2518 Drd1 dopamine receptor D1 gene DOID:5199 ureteral obstruction IEP D RGD:7248457|PMID:14612384 20130806 RGD protein:decreased expression:kidney (rat) 2518 Drd1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:10485 D RGD:7248457|PMID:14612384 20130806 RGD protein:decreased expression:kidney (rat) 2518 Drd1 dopamine receptor D1 gene DOID:5419 schizophrenia ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2518 Drd1 dopamine receptor D1 gene DOID:630 genetic disease ISO RGD:70828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2518 Drd1 dopamine receptor D1 gene DOID:670 amphetamine abuse ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:19444617 2518 Drd1 dopamine receptor D1 gene DOID:783 end stage renal disease treatment IDA D RGD:7248448|PMID:18402547 20130806 RGD 2518 Drd1 dopamine receptor D1 gene DOID:9000972 Fever IEP D RGD:2314489|PMID:19582783 20130813 RGD mRNA:increased expression:brain meninges, brain vasculature (rat) 2518 Drd1 dopamine receptor D1 gene DOID:9001542 Albuminuria ISO RGD:70828 D RGD:7248452|PMID:17353515 20130806 RGD DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) 2518 Drd1 dopamine receptor D1 gene DOID:9002362 Hyperkinesis ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24418703 2518 Drd1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis IEP D RGD:7248592|PMID:23762129 20130809 RGD mRNA:increased expression:corpus striatum (rat) 2518 Drd1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:7248592|PMID:23762129 20130809 RGD 2518 Drd1 dopamine receptor D1 gene DOID:9003805 Catalepsy ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605 2518 Drd1 dopamine receptor D1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15295029|PMID:16014726|PMID:16541082|PMID:20456009 2518 Drd1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311600|PMID:1386820 20090724 RGD protein:decreased activity:striatum (rat) 2518 Drd1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7248621|PMID:20513244 20130813 RGD 2518 Drd1 dopamine receptor D1 gene DOID:9005968 Neuralgia IEP D RGD:6907447|PMID:22171983 20121106 RGD 2518 Drd1 dopamine receptor D1 gene DOID:9006024 Hypotension ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1724532|PMID:12946566 2518 Drd1 dopamine receptor D1 gene DOID:9007692 Insulin Resistance IEP D RGD:2302119|PMID:15798088 20081119 RGD associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule 2518 Drd1 dopamine receptor D1 gene DOID:9007980 Sleep Deprivation IEP D RGD:13506946|PMID:25433096 20180226 RGD protein:increased expression:hypothalamus 2518 Drd1 dopamine receptor D1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7845605|PMID:10858612|PMID:16982285|PMID:19520364 2518 Drd1 dopamine receptor D1 gene DOID:9008953 Binge-Eating Disorder IEP D RGD:13506951|PMID:28821448 20180226 RGD 2518 Drd1 dopamine receptor D1 gene DOID:9970 obesity IEP D RGD:7248449|PMID:15983225 20130806 RGD protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) 2518 Drd1 dopamine receptor D1 gene DOID:9970 obesity treatment IDA D RGD:7248552|PMID:17191082 20130806 RGD 2518 Drd1 dopamine receptor D1 gene DOID:9976 heroin dependence IEP D RGD:13506959|PMID:28598964 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:0060001 withdrawal disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17189962 2520 Drd2 dopamine receptor D2 gene DOID:0080855 Parkinsonism IDA D RGD:6907448|PMID:22126770 20121106 RGD 2520 Drd2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9171869|PMID:12476322|PMID:15469457 2520 Drd2 dopamine receptor D2 gene DOID:0081292 traumatic brain injury treatment IEP D RGD:13506948|PMID:24047867 20180226 RGD 2520 Drd2 dopamine receptor D2 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:736796 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:12402271 2520 Drd2 dopamine receptor D2 gene DOID:10024 migraine with aura ISO RGD:736796 D RGD:1358603|PMID:9513185 19990101 RGD DNA:snp:cds:p.H313H (human) 2520 Drd2 dopamine receptor D2 gene DOID:1059 intellectual disability ISO RGD:736796 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2520 Drd2 dopamine receptor D2 gene DOID:10652 Alzheimer's disease ISO RGD:736796 D RGD:5686416|PMID:11087905 20120124 RGD protein:decreased expression:blood, lymphocyte 2520 Drd2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11566895 2520 Drd2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:1580874|PMID:11494094 19990101 RGD 2520 Drd2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:1600905|PMID:15939106 20070330 RGD DNA:polymorphism 2520 Drd2 dopamine receptor D2 gene DOID:10937 impulse control disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 2520 Drd2 dopamine receptor D2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671965 2520 Drd2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome IEP D RGD:2311576|PMID:19467315 20090724 RGD mRNA:increased expression:striatum (rat) 2520 Drd2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome treatment IEP D RGD:6907444|PMID:22876458 20121106 RGD 2520 Drd2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15286066|PMID:19339912 2520 Drd2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia treatment IEP D RGD:13506955|PMID:26297122 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:10486 D RGD:5686414|PMID:12111832 20120124 RGD 2520 Drd2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:10486 D RGD:7248682|PMID:16905556 20130815 RGD protein:decreased expression:cerebral cortex (mouse) 2520 Drd2 dopamine receptor D2 gene DOID:1307 dementia IEP D RGD:2311554|PMID:19500946 20090724 RGD mRNA:decreased expression:striatum (rat) 2520 Drd2 dopamine receptor D2 gene DOID:14330 Parkinson's disease IEP D RGD:2311585|PMID:18289173 20090724 RGD protein:increased expression:striatum (rat) 2520 Drd2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8558425 2520 Drd2 dopamine receptor D2 gene DOID:1561 cognitive disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19910723 2520 Drd2 dopamine receptor D2 gene DOID:1574 alcohol use disorder IEA D RGD:1331525|PMID:15118671 19990101 GAD 2520 Drd2 dopamine receptor D2 gene DOID:1596 depressive disorder IEP D RGD:6907449|PMID:21596067 20121106 RGD mRNA:decreased expression:striatum 2520 Drd2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:736796 D RGD:1358603|PMID:9513185 19990101 RGD DNA:snp:cds:p.H313H (human) 2520 Drd2 dopamine receptor D2 gene DOID:1742 drug psychosis IEP D RGD:11534754|PMID:26174132 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18305461|PMID:20532872 2520 Drd2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:1358603|PMID:9513185 19990101 RGD DNA:snp:cds:p.H313H (human) 2520 Drd2 dopamine receptor D2 gene DOID:2316 brain ischemia IEP D RGD:1580883|PMID:11474153 19990101 RGD 2520 Drd2 dopamine receptor D2 gene DOID:2560 morphine dependence IEP D RGD:2311587|PMID:18276072 20090724 RGD protein:decreased expression:hippocampus (rat) 2520 Drd2 dopamine receptor D2 gene DOID:303 substance-related disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16901644 2520 Drd2 dopamine receptor D2 gene DOID:3602 toxic encephalopathy IEP D RGD:2311553|PMID:19576243 20090724 RGD mRNA:decreased expression:hippocampus (rat) 2520 Drd2 dopamine receptor D2 gene DOID:446 primary hyperaldosteronism ISS RGD:10486 D RGD:13592920 20180518 MouseDO OMIM:605635 | OMIM:613677 2520 Drd2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 2520 Drd2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:1600903|PMID:10220438 20070330 RGD myoclonus dystonia, OMIM:159900, V154I 2520 Drd2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10831489|PMID:11245917|PMID:18583979|PMID:21187413 2520 Drd2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:6907450|PMID:20813060 20121106 RGD protein:increase homodimerization:striatum 2520 Drd2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9835359|PMID:20067857 20150319 RGD protein:decreased homodimerization:temporal cortex: 2520 Drd2 dopamine receptor D2 gene DOID:5425 ovarian hyperstimulation syndrome treatment IDA D RGD:13506956|PMID:25217874 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:543 dystonia ISO RGD:736796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:25711927|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 2520 Drd2 dopamine receptor D2 gene DOID:630 genetic disease ISO RGD:736796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 2520 Drd2 dopamine receptor D2 gene DOID:670 amphetamine abuse ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:18555060|PMID:19940168 2520 Drd2 dopamine receptor D2 gene DOID:679 basal ganglia disease ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11198054|PMID:12211096|PMID:18480698|PMID:19225277|PMID:19506579 2520 Drd2 dopamine receptor D2 gene DOID:783 end stage renal disease ISO RGD:736796 D RGD:2311602|PMID:18366720 20090724 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human) 2520 Drd2 dopamine receptor D2 gene DOID:9000499 Alcoholic Intoxication treatment IDA D RGD:13506954|PMID:28300818 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9000641 Pain ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996639 2520 Drd2 dopamine receptor D2 gene DOID:9000998 Brain Injuries IDA D RGD:2311580|PMID:18509630 20090724 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 2520 Drd2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:1600904|PMID:17108814 20150730 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple 2520 Drd2 dopamine receptor D2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12727942 2520 Drd2 dopamine receptor D2 gene DOID:9002362 Hyperkinesis ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1975278|PMID:24418703 2520 Drd2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis IEP D RGD:7248592|PMID:23762129 20130809 RGD mRNA:increased expression:corpus striatum (rat) 2520 Drd2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:7248592|PMID:23762129 20130809 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9002554 Tachycardia IDA D RGD:1580884|PMID:8287413 19990101 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9777039|PMID:10721819 2520 Drd2 dopamine receptor D2 gene DOID:9003805 Catalepsy ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605|PMID:9618422 2520 Drd2 dopamine receptor D2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736796 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2520 Drd2 dopamine receptor D2 gene DOID:9004657 Weight Gain ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20375926 2520 Drd2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders IDA D RGD:2311586|PMID:18284941 20090724 RGD protein:increased activity:caudate putamen (rat) 2520 Drd2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10900248|PMID:11751029|PMID:11923462|PMID:15010698|PMID:15042275|PMID:16541082|PMID:16971900|PMID:17332411|PMID:18418874|PMID:20494958 2520 Drd2 dopamine receptor D2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1624999|PMID:17174299 20090724 RGD protein:altered activity:hypothalamus, pancreatic islet, brainstem (rat) 2520 Drd2 dopamine receptor D2 gene DOID:9005968 Neuralgia IEP D RGD:6907447|PMID:22171983 20121106 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9005968 Neuralgia IMP D RGD:6907443|PMID:22902996 20121106 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9006024 Hypotension ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1724532|PMID:9917201|PMID:10626749|PMID:12946566 2520 Drd2 dopamine receptor D2 gene DOID:9007001 Bradycardia ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1724532|PMID:10626749 2520 Drd2 dopamine receptor D2 gene DOID:9008023 Memory Disorders ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 2520 Drd2 dopamine receptor D2 gene DOID:9008086 Developmental Disabilities ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 2520 Drd2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia IDA D RGD:2311579|PMID:18707801 20090724 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7845605|PMID:10534246|PMID:14629710 2520 Drd2 dopamine receptor D2 gene DOID:9008675 Dyskinesias ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 2520 Drd2 dopamine receptor D2 gene DOID:9008953 Binge-Eating Disorder IEP D RGD:13506951|PMID:28821448 20180226 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9008967 Brain Concussion IEP D RGD:13506960|PMID:26448536 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:93 language disorder ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 2520 Drd2 dopamine receptor D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736796 D RGD:2311601|PMID:18834717 20090724 RGD DNA:polymorphism:exon:32806C>T (human) 2520 Drd2 dopamine receptor D2 gene DOID:9970 obesity IEP D RGD:2311581|PMID:18477764 20090724 RGD mRNA:decreased expression:ventral tegmental area (rat) 2520 Drd2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:1600904|PMID:17108814 20070330 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple 2520 Drd2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:1600905|PMID:15939106 20070330 RGD DNA:polymorphism 2520 Drd2 dopamine receptor D2 gene DOID:9975 cocaine dependence IMP D RGD:13506950|PMID:29454035 20180226 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9976 heroin dependence IEP D RGD:13506959|PMID:28598964 20180227 RGD 2520 Drd2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:736796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751029 2521 Drd3 dopamine receptor D3 gene DOID:0050425 restless legs syndrome ISS RGD:735750 D RGD:13592920 20180518 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 2521 Drd3 dopamine receptor D3 gene DOID:0080855 Parkinsonism IMP D RGD:1358605|PMID:12535962 19990101 RGD 2521 Drd3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:7240710 20130221 OMIM 2521 Drd3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 1 PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:25741868|PMID:28492532|PMID:8225313|PMID:8411064|PMID:9514583 2521 Drd3 dopamine receptor D3 gene DOID:10652 Alzheimer's disease ISO RGD:1605735 D RGD:5686412|PMID:17182012 20120123 RGD protein:decreased expression:frontal cortex, neuron 2521 Drd3 dopamine receptor D3 gene DOID:10763 hypertension IDA D RGD:1580882|PMID:11675403 19990101 RGD 2521 Drd3 dopamine receptor D3 gene DOID:10914 amnestic disorder IMP D RGD:7175071|PMID:15619116 20121126 RGD 2521 Drd3 dopamine receptor D3 gene DOID:10937 impulse control disorder ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 2521 Drd3 dopamine receptor D3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 2521 Drd3 dopamine receptor D3 gene DOID:11832 visual epilepsy IEP D RGD:5686415|PMID:11597777 20120124 RGD mRNA, increased expression:accumbens nucleus 2521 Drd3 dopamine receptor D3 gene DOID:12399 pathological gambling ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 2521 Drd3 dopamine receptor D3 gene DOID:12849 autistic disorder ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19058789 2521 Drd3 dopamine receptor D3 gene DOID:12858 Huntington's disease ISO RGD:735750 D RGD:5686414|PMID:12111832 20120124 RGD 2521 Drd3 dopamine receptor D3 gene DOID:14330 Parkinson's disease ISO RGD:1605735 D RGD:5686418|PMID:10495037 20120124 RGD protein:increased expression:blood, lymphocyte 2521 Drd3 dopamine receptor D3 gene DOID:14330 Parkinson's disease severity ISO RGD:1605735 D RGD:5686419|PMID:8618685 20120124 RGD mRNA:decreased expression:blood, lymphocyte 2521 Drd3 dopamine receptor D3 gene DOID:1561 cognitive disorder ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15619116 2521 Drd3 dopamine receptor D3 gene DOID:480 movement disease ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12535962 2521 Drd3 dopamine receptor D3 gene DOID:4990 essential tremor ISO RGD:1605735 D RGD:1626359|PMID:16650084 20070803 RGD DNA:polymorphism:CDS:p.S9G (human) 2521 Drd3 dopamine receptor D3 gene DOID:4990 essential tremor ISO RGD:1605735 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 2521 Drd3 dopamine receptor D3 gene DOID:4990 essential tremor treatment IDA D RGD:13506957|PMID:26459182 20180227 RGD 2521 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 2521 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:7240710 20130221 OMIM 2521 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 2521 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia no_association ISO RGD:1605735 D RGD:1626358|PMID:8225313 20070803 RGD 2521 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1605735 D RGD:1626357|PMID:1362221 20070803 RGD 2521 Drd3 dopamine receptor D3 gene DOID:630 genetic disease ISO RGD:1605735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2521 Drd3 dopamine receptor D3 gene DOID:670 amphetamine abuse ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19940168 2521 Drd3 dopamine receptor D3 gene DOID:679 basal ganglia disease ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19506579 2521 Drd3 dopamine receptor D3 gene DOID:9001312 Tardive Dyskinesia ISO RGD:1605735 D RGD:1581250|PMID:12960753 20180130 RGD associated with schizophrenia 2521 Drd3 dopamine receptor D3 gene DOID:9002211 Hyperalgesia ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20433900 2521 Drd3 dopamine receptor D3 gene DOID:9002362 Hyperkinesis ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16026479 2521 Drd3 dopamine receptor D3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10523822|PMID:15100700|PMID:17332411|PMID:18566292|PMID:20494958 2521 Drd3 dopamine receptor D3 gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:13506961|PMID:25989500 20180227 RGD 2521 Drd3 dopamine receptor D3 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1605735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20945430 2521 Drd3 dopamine receptor D3 gene DOID:9008967 Brain Concussion IEP D RGD:13506960|PMID:26448536 20180227 RGD 2521 Drd3 dopamine receptor D3 gene DOID:9976 heroin dependence IEP D RGD:13506959|PMID:28598964 20180227 RGD 2522 Drd4 dopamine receptor D4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2522 Drd4 dopamine receptor D4 gene DOID:0050729 neutral lipid storage disease ISO RGD:736138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 2522 Drd4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 2522 Drd4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:5686422|PMID:21906006 20120124 RGD mRNA:decreased expression:blood 2522 Drd4 dopamine receptor D4 gene DOID:0060041 autism spectrum disorder ISO RGD:736138 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2522 Drd4 dopamine receptor D4 gene DOID:0080773 delta beta-thalassemia ISO RGD:736138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2522 Drd4 dopamine receptor D4 gene DOID:0111969 immunodeficiency 39 ISO RGD:736138 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2522 Drd4 dopamine receptor D4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2522 Drd4 dopamine receptor D4 gene DOID:1059 intellectual disability ISO RGD:736138 D RGD:13209013|PMID:22366260 20170828 RGD DNA:snps, haplotype:promoter:c.-906T>C, c.-809A>G (rs3758653, rs936461) (human) 2522 Drd4 dopamine receptor D4 gene DOID:10652 Alzheimer's disease ISO RGD:736138 D RGD:5686412|PMID:17182012 20120123 RGD protein:decreased expression:frontal cortex, neuron 2522 Drd4 dopamine receptor D4 gene DOID:10685 separation anxiety disorder ISO RGD:736138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 2522 Drd4 dopamine receptor D4 gene DOID:10939 antisocial personality disorder ISO RGD:736138 D RGD:13210585|PMID:17587443 20170905 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder IEP D RGD:2311591|PMID:17395336 20120123 RGD mRNA, protein:decreased expression:frontal association cortex 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:14699430|PMID:14699433|PMID:17671965|PMID:29054088 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:13210521|PMID:15389764 20070402 RGD DNA:snp:promoter:g.-616C>G (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:13210583|PMID:12960764 20170905 RGD DNA:duplication, snps, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:1358609|PMID:14699430 20120124 RGD 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:5686422|PMID:21906006 20120124 RGD mRNA:decreased expression:blood 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:7240710 20130221 OMIM 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:7248596|PMID:17171658 20130809 RGD DNA:duplication:promoter:g.-1480_-1240dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:7248606|PMID:11431226 20130812 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:13210510|PMID:11449395 20170901 RGD DNA:duplication:promoter:g.-1480_-1240dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:13210521|PMID:15389764 20170901 RGD DNA:snp:promoter:g.-521G>A (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:7248607|PMID:10898895 20130812 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:13210507|PMID:17679637 20170901 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:13210511|PMID:15909295 20170901 RGD DNA:snp:promoter:g.-521G>A (human) 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:736138 D RGD:1358608|PMID:9118321 19990101 RGD DNA:repeats: : 2522 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:736138 D RGD:13210577|PMID:23083021 20170905 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome no_association ISO RGD:736138 D RGD:13210516|PMID:8725747 20170901 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736138 D RGD:13209010|PMID:25258183 20170828 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:11465 autonomic nervous system disease ISO RGD:736138 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Autonomic nervous system dysfunction PMID:7881421 2522 Drd4 dopamine receptor D4 gene DOID:12399 pathological gambling ISO RGD:736138 D RGD:13210523|PMID:10402503 20170901 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:12995 conduct disorder ISO RGD:736138 D RGD:13210585|PMID:17587443 20170905 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:1324 lung cancer ISO RGD:736138 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 2522 Drd4 dopamine receptor D4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736138 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2522 Drd4 dopamine receptor D4 gene DOID:2769 tic disorder ISO RGD:736138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 2522 Drd4 dopamine receptor D4 gene DOID:4428 dyslexia ISO RGD:736138 D RGD:13209014|PMID:14755455 20170828 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2522 Drd4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:13209006|PMID:8413587 20170828 RGD protein:increased expression:striatum (human) 2522 Drd4 dopamine receptor D4 gene DOID:630 genetic disease ISO RGD:736138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2522 Drd4 dopamine receptor D4 gene DOID:670 amphetamine abuse ISO RGD:736138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 2522 Drd4 dopamine receptor D4 gene DOID:684 hepatocellular carcinoma ISO RGD:736138 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 2522 Drd4 dopamine receptor D4 gene DOID:9002514 Neointima treatment IDA D RGD:13506962|PMID:24888351 20180227 RGD associated with type 2 diabetes mellitus 2522 Drd4 dopamine receptor D4 gene DOID:9003410 Novelty Seeking Personality Trait ISO RGD:736138 D RGD:13210514|PMID:15517431 20170901 RGD DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:736138 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 2522 Drd4 dopamine receptor D4 gene DOID:9004956 Nocturnal Enuresis ISO RGD:736138 D RGD:7248549|PMID:18947481 20130807 RGD DNA:duplication, polymorphisms, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human) 2522 Drd4 dopamine receptor D4 gene DOID:9007872 Reactive Attachment Disorder susceptibility ISO RGD:736138 D RGD:36947393|PMID:11126393 20200804 RGD DNA:repeats: : 2522 Drd4 dopamine receptor D4 gene DOID:9007892 Tics ISO RGD:736138 D RGD:13210517|PMID:9280153 20170901 RGD associated with Obsessive-Compulsive Disorder;DNA:duplication:exon:g.2689_2737dup (human) 2522 Drd4 dopamine receptor D4 gene DOID:9008953 Binge-Eating Disorder IEP D RGD:13506951|PMID:28821448 20180226 RGD 2522 Drd4 dopamine receptor D4 gene DOID:9008967 Brain Concussion IEP D RGD:13506960|PMID:26448536 20180227 RGD 2522 Drd4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 2522 Drd4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:13210522|PMID:17572775 20170901 RGD associated with Attention Deficit Disorder with Hyperactivity;DNA:snp:promoter:g.-521C>T (human) 2522 Drd4 dopamine receptor D4 gene DOID:9970 obesity IEP D RGD:7248616|PMID:20810614 20130813 RGD protein:decreased expression:kidney (rat) 2522 Drd4 dopamine receptor D4 gene DOID:9970 obesity ISO RGD:736138 D RGD:1331525|PMID:15118671 19990101 GAD 2523 Drd5 dopamine receptor D5 gene DOID:0050840 cervical dystonia ISO RGD:731837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11459908 2523 Drd5 dopamine receptor D5 gene DOID:0060040 pervasive developmental disorder ISO RGD:731837 D RGD:5686422|PMID:21906006 20120124 RGD mRNA:decreased expression:blood 2523 Drd5 dopamine receptor D5 gene DOID:10652 Alzheimer's disease ISO RGD:731837 D RGD:5686412|PMID:17182012 20120123 RGD protein:increased expression:frontal cortex, neuron 2523 Drd5 dopamine receptor D5 gene DOID:10763 hypertension ISO RGD:10489 D RGD:1580887|PMID:12486173 19990101 RGD 2523 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14699430|PMID:14732906 2523 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:1358609|PMID:14699430 20120124 RGD 2523 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:5686417|PMID:11032390 20120124 RGD DNA:repeat 2523 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:731837 D RGD:5686411|PMID:15389755 20120123 RGD 2523 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:731837 D RGD:7240710 20230505 OMIM 2523 Drd5 dopamine receptor D5 gene DOID:12858 Huntington's disease ISO RGD:10489 D RGD:5686414|PMID:12111832 20120124 RGD 2523 Drd5 dopamine receptor D5 gene DOID:14330 Parkinson's disease ISO RGD:731837 D RGD:5686418|PMID:10495037 20120124 RGD protein:increased expression:blood, lymphocyte 2523 Drd5 dopamine receptor D5 gene DOID:1596 depressive disorder ISO RGD:731837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2523 Drd5 dopamine receptor D5 gene DOID:2468 psychotic disorder ISO RGD:731837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2523 Drd5 dopamine receptor D5 gene DOID:3312 bipolar disorder ISO RGD:731837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2523 Drd5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11781417 2523 Drd5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:734899|PMID:11781417 19990101 RGD DNA:repeat 2523 Drd5 dopamine receptor D5 gene DOID:630 genetic disease ISO RGD:731837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2523 Drd5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm ISO RGD:731837 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2523 Drd5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm susceptibility ISO RGD:731837 D RGD:7240710 20230505 OMIM 2525 Dspp dentin sialophosphoprotein gene DOID:11476 osteoporosis IEP D RGD:12911019|PMID:23974864 20170705 RGD protein:decreased expression:incisor dental pulp (rat) 2525 Dspp dentin sialophosphoprotein gene DOID:1324 lung cancer ISO RGD:69028 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:26467025 2525 Dspp dentin sialophosphoprotein gene DOID:1749 squamous cell carcinoma ISO RGD:69028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 2525 Dspp dentin sialophosphoprotein gene DOID:3388 periodontal disease ISS RGD:10493 D RGD:13592920 20180518 MouseDO 2525 Dspp dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:10493 D RGD:734904|PMID:11116156 19990101 RGD mRNA:decreased expression:incisor, molar (mouse) 2525 Dspp dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:12910984|PMID:11175790 20170703 RGD DNA:snp:intron:g.87612175G>A (human) 2525 Dspp dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:7240710 20130221 OMIM 2525 Dspp dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin PMID:11175779|PMID:11175790|PMID:14758537|PMID:15592686|PMID:16199547|PMID:18456718|PMID:19131317|PMID:21736673|PMID:22243242|PMID:22392858|PMID:25741868|PMID:27993330|PMID:28492532 2525 Dspp dentin sialophosphoprotein gene DOID:5409 lung small cell carcinoma ISO RGD:69028 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 2525 Dspp dentin sialophosphoprotein gene DOID:5608 dental pulp calcification ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia PMID:12354781|PMID:18456718|PMID:25741868|PMID:26788535|PMID:28492532 2525 Dspp dentin sialophosphoprotein gene DOID:630 genetic disease ISO RGD:69028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2525 Dspp dentin sialophosphoprotein gene DOID:684 hepatocellular carcinoma ISO RGD:69028 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 2525 Dspp dentin sialophosphoprotein gene DOID:701 dentin dysplasia ISO RGD:10493 D RGD:734904|PMID:11116156 19990101 RGD mRNA:decreased expression:incisor, molar (mouse) 2525 Dspp dentin sialophosphoprotein gene DOID:701 dentin dysplasia ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN PMID:25741868|PMID:28492532 2525 Dspp dentin sialophosphoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69028 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 2525 Dspp dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:12910984|PMID:11175790 20170703 RGD DNA:missense mutations:cds:p.P17T, p.V18P (human) 2525 Dspp dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:7240710 20130221 OMIM 2525 Dspp dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 2525 Dspp dentin sialophosphoprotein gene DOID:9004538 Hearing Loss ISO RGD:69028 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 2525 Dspp dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:12911015|PMID:15690376 20170705 RGD DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human) 2525 Dspp dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:7240710 20130221 OMIM 2525 Dspp dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:28492532 2525 Dspp dentin sialophosphoprotein gene DOID:9007364 Mouth Neoplasms ISO RGD:69028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 2525 Dspp dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:7240710 20130221 OMIM 2525 Dspp dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II PMID:25741868|PMID:28492532 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:0050851 glomerulosclerosis induced ISO RGD:1605733 D RGD:1556472|PMID:16107576 20200908 RGD 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605733 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:289 endometriosis ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:3021 acute kidney failure IEP D RGD:10395241|PMID:11340354 20150826 RGD mRNA:increased expression:kidney 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:3021 acute kidney failure ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:630 genetic disease ISO RGD:1605733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:783 end stage renal disease ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16567187 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:1605733 D RGD:10395236|PMID:18607263 20150826 RGD 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15723263 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9002371 Cardiotoxicity ISO RGD:1605733 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:29305325 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605733 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9709397 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9006205 Animal Disease Models ISO RGD:1605733 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 2526 Hbegf heparin-binding EGF-like growth factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:10495 D RGD:27095962|PMID:29223763 20200519 RGD 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:737237 D RGD:11536538|PMID:25707398 20200519 RGD DNA:haploinsufficiency: : 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28492532|PMID:29034068 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:7240710 20140911 OMIM 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Intellectual disability syndrome due to a DYRK1A point mutation PMID:16199547|PMID:17237124|PMID:17576681|PMID:18414213|PMID:21204217|PMID:21294719|PMID:23099646|PMID:23160955|PMID:23512985|PMID:24033266|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25533962|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28167836|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:28708303|PMID:29034068|PMID:31130284|PMID:31785789|PMID:31803247|PMID:32555303|PMID:32581362|PMID:32860008|PMID:32959227|PMID:33004838|PMID:33624935|PMID:34008892|PMID:34253714|PMID:34345024|PMID:35598272|PMID:9536098 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:11076606|PMID:25920557 20190918 RGD DNA:mutations:cds: 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:11536538|PMID:25707398 20200519 RGD DNA:haploinsufficiency: : 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28492532|PMID:32581362|PMID:9536098 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362|PMID:34345024|PMID:9536098 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10629 microphthalmia ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10907 microcephaly ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:11175 enophthalmos ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:737237 D RGD:14974029|PMID:18696092 20190918 RGD protein:increased expression:brain: 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISS RGD:10495 D RGD:13592920 20180518 MouseDO OMIM:190685 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome treatment ISO RGD:10495 D RGD:14973377|PMID:28647555 20190918 RGD 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome treatment ISO RGD:10495 D RGD:14974030|PMID:23220201 20190918 RGD 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1793 pancreatic cancer ISO RGD:737237 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:31838052 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25326635|PMID:25741868|PMID:25920557|PMID:28053047|PMID:28191890|PMID:28492532 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:630 genetic disease ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25730262|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26795593|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:31785789|PMID:32581362|PMID:33004838|PMID:34345024 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737237 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:17576681|PMID:24088041|PMID:25326635|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:32860008|PMID:33004838|PMID:9536098 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007 sudden infant death syndrome ISO RGD:737237 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:10495 D RGD:27095962|PMID:29223763 20200519 RGD 2528 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 2531 Sparcl1 SPARC like 1 gene DOID:1826 epilepsy ISO RGD:736595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488994 2531 Sparcl1 SPARC like 1 gene DOID:289 endometriosis ISO RGD:736595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 2531 Sparcl1 SPARC like 1 gene DOID:630 genetic disease ISO RGD:736595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2531 Sparcl1 SPARC like 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736595 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:0050851 glomerulosclerosis IAGP D RGD:14401564|PMID:16400008 20210708 RGD compared to Wi and 10-20 week MWF 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:0050851 glomerulosclerosis treatment IAGP XCO:0000555 D RGD:25314270|PMID:16395266 20210402 RGD compared to treated and Wi 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:10763 hypertension IAGP D RGD:14401564|PMID:16400008 20210708 RGD compared to Wi nd 10 week MWF 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:576 proteinuria IAGP D RGD:14401564|PMID:16400008 20210708 RGD compared to Wi and 10-20 week MWF 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:576 proteinuria MODEL: treatment IAGP XCO:0000555 D RGD:25314250|PMID:10703671 20210707 RGD compared to control MWF and Wi 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:576 proteinuria MODEL: treatment IAGP XCO:0000555 D RGD:25314263|PMID:10516341 20210414 RGD compared to untreated MWF 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:576 proteinuria sexual_dimorphism IAGP D RGD:25314254|PMID:3199667 20210312 RGD compared to female MWF/Ztm 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:576 proteinuria treatment IAGP XCO:0000555 D RGD:25314270|PMID:16395266 20210402 RGD compared to treated and Wi 25314294 MWF/Ztm Munich Wistar Fromter strain DOID:576 proteinuria treatment IDA D RGD:25314253|PMID:10023637 20210511 RGD compared to untreated MWF 2532 Edn1 endothelin 1 gene DOID:0050152 aspiration pneumonia IEP D RGD:4145069|PMID:19262391 20101022 RGD protein:increased secretion:plasma (rat) 2532 Edn1 endothelin 1 gene DOID:0050700 cardiomyopathy ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11589785 2532 Edn1 endothelin 1 gene DOID:0050758 metabolic acidosis treatment IDA D RGD:1625312|PMID:17255858 20140623 RGD 2532 Edn1 endothelin 1 gene DOID:0050848 obstructive sleep apnea IEP D RGD:4145067|PMID:19358946 20101022 RGD protein:increased expression:myocardium (rat) 2532 Edn1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:4144901|PMID:17198911 20101021 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:4145075|PMID:18580062 20101022 RGD DNA:polymorphism:exon:p.K198N (human) 2532 Edn1 endothelin 1 gene DOID:0060224 atrial fibrillation ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762801 2532 Edn1 endothelin 1 gene DOID:0060224 atrial fibrillation severity ISO RGD:730848 D RGD:8661797|PMID:22669310 20140617 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 2532 Edn1 endothelin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730848 D RGD:8661800|PMID:20005906 20140617 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:10591 pre-eclampsia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 2532 Edn1 endothelin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:730848 D RGD:8661676|PMID:22406080 20140612 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:1074 kidney failure ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 2532 Edn1 endothelin 1 gene DOID:1074 kidney failure onset IEP D RGD:4144130|PMID:20888384 20101007 RGD protein:increased expression:kidney (rat) 2532 Edn1 endothelin 1 gene DOID:10762 portal hypertension IDA D RGD:4892595|PMID:17214938 20110225 RGD 2532 Edn1 endothelin 1 gene DOID:10763 hypertension IEP D RGD:4144829|PMID:20733093 20101018 RGD protein:increased secretion:plasma (rat) 2532 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7721406|PMID:8152482|PMID:8440307|PMID:10474778|PMID:10669576|PMID:11847185|PMID:12149661|PMID:12425201|PMID:12600921|PMID:15188945|PMID:15302986|PMID:15314687|PMID:15834289|PMID:17130675 2532 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:1625065|PMID:17444275 20070518 RGD DNA:polymorphism:exon:p.K198N (human) 2532 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:2313283|PMID:18496905 20090915 RGD associated with Diabetic Nephropathies;protein:increased secretion:plasma 2532 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:8661804|PMID:11078355 20140617 RGD human gene in a rat model 2532 Edn1 endothelin 1 gene DOID:10941 intracranial aneurysm ISO RGD:730848 D RGD:155882593|PMID:32602008 20230201 RGD protein:increased expression:serum 2532 Edn1 endothelin 1 gene DOID:10952 nephritis treatment IEP D RGD:8662324|PMID:9176845 20140619 RGD mRNA, protein:increased expression:multiple (rat) 2532 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome IEP D RGD:4145073|PMID:1618274 20101022 RGD protein:increased secretion:plasma (rat) 2532 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 2532 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:4145079|PMID:8256914 20101025 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome treatment IDA D RGD:8662284|PMID:16741035 20140618 RGD 2532 Edn1 endothelin 1 gene DOID:114 heart disease IEP D RGD:4892599|PMID:16810072 20110225 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart left ventricle, plasma 2532 Edn1 endothelin 1 gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:4144841|PMID:20647310 20101018 RGD protein:increased expression:lung (rat) 2532 Edn1 endothelin 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 2532 Edn1 endothelin 1 gene DOID:1184 nephrotic syndrome ISO RGD:730848 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34783119 2532 Edn1 endothelin 1 gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:2302065|PMID:19000375 20090915 RGD associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) 2532 Edn1 endothelin 1 gene DOID:12217 Lewy body dementia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2532 Edn1 endothelin 1 gene DOID:1222 cartilage disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 2532 Edn1 endothelin 1 gene DOID:1287 cardiovascular system disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 2532 Edn1 endothelin 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:730848 D RGD:8661756|PMID:10026353 20140613 RGD protein:increased expression:aorta, plasma (human) 2532 Edn1 endothelin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 2532 Edn1 endothelin 1 gene DOID:13241 Behcet's disease ISO RGD:730848 D RGD:8661801|PMID:9132327 20140617 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:13544 low tension glaucoma ISO RGD:730848 D RGD:8661736|PMID:21946544 20140613 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:13550 angle-closure glaucoma ISO RGD:730848 D RGD:8661736|PMID:21946544 20140613 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:13641 exfoliation syndrome ISO RGD:730848 D RGD:8661674|PMID:15031170 20140612 RGD associated with Cataract;protein:increased expression:aqueous humor (human) 2532 Edn1 endothelin 1 gene DOID:14330 Parkinson's disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2532 Edn1 endothelin 1 gene DOID:1470 major depressive disorder ISO RGD:730848 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 2532 Edn1 endothelin 1 gene DOID:1485 cystic fibrosis ISO RGD:730848 D RGD:4145062|PMID:10445603 20101021 RGD protein:increased expression:sputum (human) 2532 Edn1 endothelin 1 gene DOID:1682 congenital heart disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 2532 Edn1 endothelin 1 gene DOID:1687 neovascular glaucoma ISO RGD:730848 D RGD:8661689|PMID:20373895 20140612 RGD protein:increased expression:aqueous humor (human) 2532 Edn1 endothelin 1 gene DOID:1875 impotence IEP D RGD:2292142|PMID:17420087 20110224 RGD protein:increased expression:plasma 2532 Edn1 endothelin 1 gene DOID:1875 impotence ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 2532 Edn1 endothelin 1 gene DOID:1891 optic nerve disease ISO RGD:730848 D RGD:8661688|PMID:18442442 20140612 RGD human protein in a rat model 2532 Edn1 endothelin 1 gene DOID:1924 hypogonadism IEP D RGD:4833436|PMID:17880366 20101118 RGD mRNA, protein:decreased expression:testis (rat) 2532 Edn1 endothelin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10499 D RGD:8661682|PMID:16806235 20140612 RGD 2532 Edn1 endothelin 1 gene DOID:2316 brain ischemia IEP D RGD:4144887|PMID:8113329 20101020 RGD protein:increased expression:cerebral cortex (rat) 2532 Edn1 endothelin 1 gene DOID:2377 multiple sclerosis ISO RGD:730848 D RGD:8661710|PMID:12646761 20140612 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:2388 renal artery disease IEP D RGD:8662320|PMID:10217661 20140619 RGD mRNA:increased expression:afferent arteriole of kidney (rat) 2532 Edn1 endothelin 1 gene DOID:2527 nephrosis IEP D RGD:4144855|PMID:9175058 20101019 RGD mRNA:increased expression:glomerulus (rat) 2532 Edn1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 2532 Edn1 endothelin 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:730848 D RGD:8662402|PMID:9595474 20140623 RGD human gene in a rat model 2532 Edn1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16981460 2532 Edn1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:4144869|PMID:11668616 19990101 RGD DNA:transition:intron:g.4124T>C (human) 2532 Edn1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:4144895|PMID:20588001 20101021 RGD Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) 2532 Edn1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:4144848|PMID:8569091 20101019 RGD mRNA, protein:increased expression:glomerulus (rat) 2532 Edn1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis treatment IMP D RGD:8662296|PMID:11601021 20140618 RGD 2532 Edn1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:10499 D RGD:4144852|PMID:19967049 20101019 RGD mRNA, protein:increased expression:kidney (mouse) 2532 Edn1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 2532 Edn1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:4144868|PMID:20707291 20101019 RGD DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) 2532 Edn1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:4145062|PMID:10445603 20101021 RGD protein:increased expression:sputum (human) 2532 Edn1 endothelin 1 gene DOID:3393 coronary artery disease ISO RGD:730848 D RGD:4144886|PMID:7968078 20101020 RGD protein:increased expression:atherosclerotic lesions (human) 2532 Edn1 endothelin 1 gene DOID:3393 coronary artery disease severity ISO RGD:730848 D RGD:8661705|PMID:18923236 20140612 RGD associated with Hypertension;DNA:missense mutation:cds:p.L198N (human) 2532 Edn1 endothelin 1 gene DOID:3393 coronary artery disease treatment IMP D RGD:8662294|PMID:11927217 20140618 RGD 2532 Edn1 endothelin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17197033 2532 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:4144892|PMID:9279246 20101021 RGD protein:increased expression:lung, airway epithelium, leukocyte (rat) 2532 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17235729 2532 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:4144866|PMID:9284832 20101019 RGD associated with Scleroderma, Systemic; protein:increased expression:lung (human) 2532 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:4144889|PMID:8099638 20101020 RGD Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) 2532 Edn1 endothelin 1 gene DOID:4001 ovarian carcinoma ISO RGD:730848 D RGD:4144954|PMID:9973223 20101021 RGD mRNA, protein:increased expression:ovarian tumor (human) 2532 Edn1 endothelin 1 gene DOID:418 systemic scleroderma ISO RGD:730848 D RGD:4145072|PMID:7653485 20101022 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:4248 coronary stenosis treatment ISO RGD:730848 D RGD:8661796|PMID:10854676 20140617 RGD 2532 Edn1 endothelin 1 gene DOID:4676 uremia IEP D RGD:8662310|PMID:11518857 20140619 RGD protein:increased expression:plasma (rat) 2532 Edn1 endothelin 1 gene DOID:5082 liver cirrhosis IEP D RGD:4144843|PMID:20628429 20101018 RGD mRNA:increased expression:liver (rat) 2532 Edn1 endothelin 1 gene DOID:5199 ureteral obstruction IEP D RGD:8662268|PMID:12887768 20140618 RGD mRNA, protein:increased expression:renal tubule, renal interstitium (rat) 2532 Edn1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:730848 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 2532 Edn1 endothelin 1 gene DOID:5327 retinal detachment ISO RGD:730848 D RGD:8661680|PMID:23974951 20140612 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:552 pneumonia severity ISO RGD:730848 D RGD:4144879|PMID:20529344 20101020 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:557 kidney disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8604712|PMID:10399635|PMID:15106802 2532 Edn1 endothelin 1 gene DOID:5844 myocardial infarction IEP D RGD:1580921|PMID:10573185 20140623 RGD mRNA:increased expression:heart left ventricle (rat) 2532 Edn1 endothelin 1 gene DOID:5844 myocardial infarction severity ISO RGD:730848 D RGD:4144880|PMID:17893002 20101020 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:730848 D RGD:8661757|PMID:12581682 20140613 RGD protein:increased expression:aortic root, coronary sinus, plasma (human) 2532 Edn1 endothelin 1 gene DOID:6000 congestive heart failure IEP D RGD:7244167|PMID:10199843 20130523 RGD mRNA,protein:increased expression:heart: 2532 Edn1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7967349|PMID:7969316|PMID:9861300|PMID:11136700|PMID:11707688|PMID:16360360|PMID:16762801 2532 Edn1 endothelin 1 gene DOID:6000 congestive heart failure severity ISO RGD:730848 D RGD:4144845|PMID:8149524 20101019 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:730848 D RGD:8661798|PMID:10973842 20140617 RGD 2532 Edn1 endothelin 1 gene DOID:630 genetic disease ISO RGD:730848 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2532 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension IEP D RGD:4144128|PMID:20889845 20101007 RGD mRNA:increased expression:lung (rat) 2532 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:10499 D RGD:4144877|PMID:20562228 20101020 RGD Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse) 2532 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7549228|PMID:9918753|PMID:12391278|PMID:20929026|PMID:20967148 2532 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:4144865|PMID:20890431 20101019 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:4144882|PMID:20498147 20101020 RGD Hypertension, Portopulmonary; protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:6713 cerebrovascular disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17578707 2532 Edn1 endothelin 1 gene DOID:7148 rheumatoid arthritis treatment ISO RGD:730848 D RGD:8661695|PMID:22249931 20140612 RGD 2532 Edn1 endothelin 1 gene DOID:750 peptic ulcer disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16384872 2532 Edn1 endothelin 1 gene DOID:77 gastrointestinal system disease ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324314 2532 Edn1 endothelin 1 gene DOID:783 end stage renal disease IEP D RGD:4144849|PMID:8441230 20101019 RGD mRNA:increased expression:kidney (rat) 2532 Edn1 endothelin 1 gene DOID:8252 chronic rhinitis ISO RGD:730848 D RGD:8661738|PMID:8845175 20140613 RGD protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human) 2532 Edn1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:8661730|PMID:22729434 20140613 RGD 2532 Edn1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:8661732|PMID:16129094 20140613 RGD protein:altered expression:retinal pigment epithelium, outer plexiform layer, retinal astrocyte (mouse) 2532 Edn1 endothelin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:730848 D RGD:8661755|PMID:14556009 20140613 RGD associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human) 2532 Edn1 endothelin 1 gene DOID:8947 diabetic retinopathy IEP D RGD:9068929|PMID:20628425 20140822 RGD mRNA:increased expression:retina (rat) 2532 Edn1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:2313279|PMID:19293263 20090915 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma 2532 Edn1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:2313281|PMID:18806884 20090915 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human) 2532 Edn1 endothelin 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:730848 D RGD:4144854|PMID:12629276 20101019 RGD mRNA, protein:increased expression:kidney (human) 2532 Edn1 endothelin 1 gene DOID:900 hepatopulmonary syndrome IEP D RGD:4144891|PMID:15185300 20101020 RGD protein:increased secretion:liver, plasma (rat) 2532 Edn1 endothelin 1 gene DOID:9000040 Hypertrophy ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12791704|PMID:20177073 2532 Edn1 endothelin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12011762|PMID:15838369 2532 Edn1 endothelin 1 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:730848 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 2532 Edn1 endothelin 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:730848 D RGD:8661662|PMID:19358249 20140611 RGD DNA:missense mutation:cds:p.L198N (rs5370) (human) 2532 Edn1 endothelin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 2532 Edn1 endothelin 1 gene DOID:9000590 Dyspnea ISO RGD:730848 D RGD:4145071|PMID:18831711 20101022 RGD protein:increased secretion:urine (human) 2532 Edn1 endothelin 1 gene DOID:9000641 Pain ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19429182|PMID:20042899 2532 Edn1 endothelin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15486036 2532 Edn1 endothelin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10499 D RGD:734914|PMID:12941866 19990101 RGD 2532 Edn1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:7240710 20140911 OMIM 2532 Edn1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Question mark ears, isolated PMID:23315542|PMID:24268655|PMID:28492532 2532 Edn1 endothelin 1 gene DOID:9001443 Hypercapnia IEP D RGD:4144885|PMID:11230327 20101020 RGD protein:increased secretion:plasma (rat) 2532 Edn1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:10499 D RGD:4144902|PMID:8764295 20090915 RGD 2532 Edn1 endothelin 1 gene DOID:9001542 Albuminuria IEP D RGD:4144838|PMID:20666571 20101018 RGD protein:increased expression:renal papilla (rat) 2532 Edn1 endothelin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12609069 2532 Edn1 endothelin 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy IEP D RGD:8662387|PMID:9893116 20140623 RGD mRNA:increased expression:renal cortex (rat) 2532 Edn1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:730848 D RGD:4145063|PMID:19730395 20101021 RGD DNA:transversion:exon:p.K198N rs5370 (human) 2532 Edn1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension no_association ISO RGD:730848 D RGD:4145070|PMID:11593097 20101022 RGD DNA:transversion:exon:p.K198N rs5370 (human) 2532 Edn1 endothelin 1 gene DOID:9001809 Urinary Retention ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 2532 Edn1 endothelin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730848 D RGD:2313284|PMID:18346810 20090915 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:10499 D RGD:8661716|PMID:23347081 20140612 RGD mRNA:increased expression:paw skin (mouse) 2532 Edn1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19429182 2532 Edn1 endothelin 1 gene DOID:9002211 Hyperalgesia susceptibility ISO RGD:10499 D RGD:8661735|PMID:15664691 20140613 RGD 2532 Edn1 endothelin 1 gene DOID:9002457 Experimental Arthritis ISO RGD:10499 D RGD:8661695|PMID:22249931 20140612 RGD mRNA:increased expression:inguinal lymph node (mouse) 2532 Edn1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:7240710 20140911 OMIM 2532 Edn1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 3 PMID:12244558|PMID:17357073|PMID:18288492|PMID:23315542|PMID:24268655|PMID:25741868|PMID:28492532 2532 Edn1 endothelin 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 2532 Edn1 endothelin 1 gene DOID:9003139 Cardiac Fibrosis treatment IDA D RGD:8662299|PMID:11430925 20140618 RGD 2532 Edn1 endothelin 1 gene DOID:9003507 Premature Birth ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 2532 Edn1 endothelin 1 gene DOID:9003936 Cardiomegaly ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22198280 2532 Edn1 endothelin 1 gene DOID:9003936 Cardiomegaly severity IEP D RGD:8661803|PMID:7771559 20140617 RGD protein:increased expression:heart ventricle, plasma (rat) 2532 Edn1 endothelin 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4892577|PMID:18722366 20110224 RGD 2532 Edn1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17470888 2532 Edn1 endothelin 1 gene DOID:9004484 Sepsis IEP D RGD:8662298|PMID:10838194 20140618 RGD mRNA, protein:increased expression:multiple (rat) 2532 Edn1 endothelin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 2532 Edn1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:8661692|PMID:10543394 20140612 RGD protein:increased expression:heart left ventricle (rat) 2532 Edn1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10601118|PMID:15486036 2532 Edn1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment IDA D RGD:8662288|PMID:10601118 20140618 RGD 2532 Edn1 endothelin 1 gene DOID:9005005 Oral Ulcer ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16391412 2532 Edn1 endothelin 1 gene DOID:9005372 Inflammation ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 2532 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313282|PMID:18516100 20090915 RGD mRNA:increased expression:heart, kidney, retina (rat) 2532 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10499 D RGD:2312288|PMID:18351623 20140612 RGD 2532 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12458661|PMID:12967931 2532 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:2312288|PMID:18351623 20140612 RGD 2532 Edn1 endothelin 1 gene DOID:9005930 Endotoxemia IEP D RGD:8662297|PMID:11206318 20140618 RGD mRNA, protein:increased expression:liver (rat) 2532 Edn1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:10499 D RGD:4144881|PMID:20516397 20101020 RGD 2532 Edn1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1309933|PMID:10399635 2532 Edn1 endothelin 1 gene DOID:9007001 Bradycardia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1309933|PMID:8440307 2532 Edn1 endothelin 1 gene DOID:9007095 Pneumoperitoneum IEP D RGD:8662302|PMID:11285964 20140618 RGD mRNA, protein:increased expression:kidney, peritubular capillary, proximal tubule (rat) 2532 Edn1 endothelin 1 gene DOID:9007096 Stroke ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 2532 Edn1 endothelin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10462014|PMID:11707688|PMID:16306806 2532 Edn1 endothelin 1 gene DOID:9007480 Hyperoxia IEP D RGD:4144857|PMID:20589171 20101019 RGD protein:altered expression:lung (rat) 2532 Edn1 endothelin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 2532 Edn1 endothelin 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:10499 D RGD:4145074|PMID:18631350 20101022 RGD Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) 2532 Edn1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:4892580|PMID:18586023 20110224 RGD 2532 Edn1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15642760|PMID:16700825 2532 Edn1 endothelin 1 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:4892579|PMID:18600494 20110224 RGD protein:increased expression:retina 2532 Edn1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10499 D RGD:734913|PMID:8152482 19990101 RGD 2532 Edn1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8152482|PMID:9671575|PMID:10100047|PMID:20707411 2532 Edn1 endothelin 1 gene DOID:9008848 Slow Coronary Flow ISO RGD:730848 D RGD:9684971|PMID:15336804 20141211 RGD protein:increased expression:plasma, coronary sinus, femoral artery (human) 2532 Edn1 endothelin 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9473106|PMID:10693666 2532 Edn1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313280|PMID:19286964 20090915 RGD protein:increased expression:mesenteric artery 2532 Edn1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 2532 Edn1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:2313278|PMID:19581418 20090915 RGD mRNA:increased expression:blood vessel endothelial cell 2532 Edn1 endothelin 1 gene DOID:9477 pulmonary embolism severity IEP D RGD:4144858|PMID:20559433 20101019 RGD protein:increased secretion:plasma (rat) 2532 Edn1 endothelin 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:730848 D RGD:8661680|PMID:23974951 20140612 RGD protein:increased expression:plasma (human) 2532 Edn1 endothelin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730848 D RGD:4144835|PMID:2198188 20101018 RGD protein:increased secretion:plasma (human) 2532 Edn1 endothelin 1 gene DOID:9970 obesity ISO RGD:730848 D RGD:1625065|PMID:17444275 20070518 RGD DNA:polymorphism:exon:p.K198N (human) 2533 Edn2 endothelin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737548 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2533 Edn2 endothelin 2 gene DOID:10591 pre-eclampsia ISO RGD:737548 D RGD:1580919|PMID:9015697 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:1580916|PMID:10976780 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:1580917|PMID:10489105 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:1625402|PMID:15007037 20070606 RGD mRNA:increased expression:leukocyte 2533 Edn2 endothelin 2 gene DOID:5844 myocardial infarction IEP D RGD:1580921|PMID:10573185 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:630 genetic disease ISO RGD:737548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2533 Edn2 endothelin 2 gene DOID:6432 pulmonary hypertension ISO RGD:737548 D RGD:1580918|PMID:10598486 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:1580920|PMID:1479622 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:9004080 Aortic Rupture ISO RGD:737548 D RGD:1580915|PMID:11947982 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:9006024 Hypotension ISO RGD:737548 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1309933 2533 Edn2 endothelin 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:737548 D RGD:1580915|PMID:11947982 19990101 RGD 2533 Edn2 endothelin 2 gene DOID:9007001 Bradycardia ISO RGD:737548 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1309933 2534 Edn3 endothelin 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1344952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8696331 2534 Edn3 endothelin 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1344952 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:19556619|PMID:24033266|PMID:28492532|PMID:8696331 2534 Edn3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:7240710 20230510 OMIM 2534 Edn3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4B PMID:11303518|PMID:19556619|PMID:19764030|PMID:20583152|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8630503|PMID:8696331|PMID:9359047|PMID:9587491 2534 Edn3 endothelin 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344952 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 2534 Edn3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8630502|PMID:8630503|PMID:8896568|PMID:9359047 2534 Edn3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:1601003|PMID:9359047 20070403 RGD DNA:point mutation:exon:A17T, A224T 2534 Edn3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:7240710 20230510 OMIM 2534 Edn3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10231870|PMID:14633923|PMID:19556619|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:8696331|PMID:9359047|PMID:9587491 2534 Edn3 endothelin 3 gene DOID:10763 hypertension ISO RGD:1344952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2059916 2534 Edn3 endothelin 3 gene DOID:630 genetic disease ISO RGD:1344952 D RGD:8554872 20160510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 2534 Edn3 endothelin 3 gene DOID:9000166 Intrinsic Sleep Disorders ISO RGD:1344952 D RGD:1601002|PMID:8696331 20070403 RGD congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon 2534 Edn3 endothelin 3 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:1344952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8630502|PMID:8630503|PMID:17516928 2534 Edn3 endothelin 3 gene DOID:9006024 Hypotension ISO RGD:1344952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1309933|PMID:7982458 2534 Edn3 endothelin 3 gene DOID:9007001 Bradycardia ISO RGD:1344952 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1309933 2534 Edn3 endothelin 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1344952 D RGD:1601001|PMID:8630502 20070403 RGD Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:deletion:exon 2534 Edn3 endothelin 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1344952 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome 2535 Ednra endothelin receptor type A gene DOID:0050848 obstructive sleep apnea IEP D RGD:4145067|PMID:19358946 20110218 RGD 2535 Ednra endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083432 2535 Ednra endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:4892306|PMID:20083432 20110218 RGD DNA:polymorphism: :-231G>A (human) 2535 Ednra endothelin receptor type A gene DOID:0050855 renal fibrosis IEP D RGD:7244179|PMID:11078391 20130528 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney 2535 Ednra endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:7240710 20170510 OMIM 2535 Ednra endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia PMID:16116593|PMID:20583178|PMID:25741868|PMID:25772936|PMID:28492532 2535 Ednra endothelin receptor type A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 2535 Ednra endothelin receptor type A gene DOID:10247 pleurisy ISO RGD:737538 D RGD:4892325|PMID:15107459 20110221 RGD 2535 Ednra endothelin receptor type A gene DOID:10762 portal hypertension IMP D RGD:4892595|PMID:17214938 20110225 RGD 2535 Ednra endothelin receptor type A gene DOID:10763 hypertension IDA D RGD:1581830|PMID:16157796 20061026 RGD 2535 Ednra endothelin receptor type A gene DOID:10763 hypertension IEP D RGD:4892284|PMID:20144075 20110217 RGD associated with Uremia 2535 Ednra endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12600921 2535 Ednra endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:1580950|PMID:14616768 19990101 RGD 2535 Ednra endothelin receptor type A gene DOID:1184 nephrotic syndrome IEP D RGD:7244242|PMID:12972712 20130529 RGD mRNA:increased expression:Glomerulus 2535 Ednra endothelin receptor type A gene DOID:12583 velocardiofacial syndrome ISS RGD:737538 D RGD:13592920 20180518 MouseDO OMIM:192430 2535 Ednra endothelin receptor type A gene DOID:1682 congenital heart disease ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9811577 2535 Ednra endothelin receptor type A gene DOID:1875 impotence IEP D RGD:2292142|PMID:17420087 20110224 RGD 2535 Ednra endothelin receptor type A gene DOID:1875 impotence ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18823320 2535 Ednra endothelin receptor type A gene DOID:2841 asthma ISO RGD:737538 D RGD:4892288|PMID:18632188 20110217 RGD 2535 Ednra endothelin receptor type A gene DOID:2841 asthma ISO RGD:737538 D RGD:4892322|PMID:17448648 20110221 RGD 2535 Ednra endothelin receptor type A gene DOID:5844 myocardial infarction IDA D RGD:1580948|PMID:12524016 19990101 RGD 2535 Ednra endothelin receptor type A gene DOID:6000 congestive heart failure ISO RGD:737537 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 2535 Ednra endothelin receptor type A gene DOID:630 genetic disease ISO RGD:737537 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2535 Ednra endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:7240710 20230505 OMIM 2535 Ednra endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:734916|PMID:11376172 20070531 RGD DNA:polymorphism:-231A>G 2535 Ednra endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Migraine, resistance to PMID:11376172|PMID:23058564 2535 Ednra endothelin receptor type A gene DOID:6432 pulmonary hypertension IDA D RGD:1580949|PMID:15243299 19990101 RGD 2535 Ednra endothelin receptor type A gene DOID:6432 pulmonary hypertension IMP D RGD:4892283|PMID:20531217 20110217 RGD 2535 Ednra endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:737537 D RGD:4144877|PMID:20562228 20110217 RGD 2535 Ednra endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:737537 D RGD:4892320|PMID:18506008 20110221 RGD 2535 Ednra endothelin receptor type A gene DOID:850 lung disease severity ISO RGD:737537 D RGD:4892286|PMID:20028935 20110217 RGD associated with Cystic Fibrosis 2535 Ednra endothelin receptor type A gene DOID:9000918 Disease Progression ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 2535 Ednra endothelin receptor type A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737538 D RGD:4892282|PMID:21183790 20110217 RGD associated with Bladder Neoplasms 2535 Ednra endothelin receptor type A gene DOID:9002165 Diabetic Nephropathies IMP D RGD:4892326|PMID:21191784 20110221 RGD associated with Diabetes Mellitus, Experimental 2535 Ednra endothelin receptor type A gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737538 D RGD:734910|PMID:9649553 20150304 RGD 2535 Ednra endothelin receptor type A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 2535 Ednra endothelin receptor type A gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17032313 2535 Ednra endothelin receptor type A gene DOID:9005372 Inflammation ISO RGD:737538 D RGD:4892288|PMID:18632188 20110217 RGD 2535 Ednra endothelin receptor type A gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:4892336|PMID:20690982 20110222 RGD 2535 Ednra endothelin receptor type A gene DOID:9007096 Stroke IMP D RGD:4892584|PMID:17597600 20110224 RGD 2535 Ednra endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:737537 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 2535 Ednra endothelin receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:737537 D RGD:1580946|PMID:14729387 19990101 RGD 2535 Ednra endothelin receptor type A gene DOID:9007558 Acute Experimental Pancreatitis treatment IMP D RGD:1581841|PMID:12799311 20180326 RGD 2535 Ednra endothelin receptor type A gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:4892580|PMID:18586023 20110224 RGD 2535 Ednra endothelin receptor type A gene DOID:9008091 Optic Nerve Injuries IEP D RGD:4892579|PMID:18600494 20110224 RGD mRNA:increased expression:retina 2535 Ednra endothelin receptor type A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9811577|PMID:17294360 2535 Ednra endothelin receptor type A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9473106|PMID:10693666 2535 Ednra endothelin receptor type A gene DOID:9279 hyperhomocysteinemia IEP D RGD:4892572|PMID:19371338 20110224 RGD 2535 Ednra endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313280|PMID:19286964 20110221 RGD protein:increased expression:mesenteric artery 2535 Ednra endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737537 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 2535 Ednra endothelin receptor type A gene DOID:9675 pulmonary emphysema IMP D RGD:4892307|PMID:19897563 20110218 RGD 2536 Ednrb endothelin receptor type B gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736090 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 2536 Ednrb endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2536 Ednrb endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:7240710 20230517 OMIM 2536 Ednrb endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABCD syndrome PMID:10528251|PMID:11891690|PMID:20127975|PMID:24033266|PMID:25741868|PMID:26100139|PMID:26467025|PMID:28492532|PMID:30394532|PMID:7778600|PMID:8001159 2536 Ednrb endothelin receptor type B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:736090 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 2536 Ednrb endothelin receptor type B gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736090 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 2536 Ednrb endothelin receptor type B gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:736090 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 2536 Ednrb endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2536 Ednrb endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:7240710 20230517 OMIM 2536 Ednrb endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:10090908|PMID:10458491|PMID:10528251|PMID:10664228|PMID:10874640|PMID:11891690|PMID:14633923|PMID:16145050|PMID:16944573|PMID:16954478|PMID:17011274|PMID:18162831|PMID:19320733|PMID:20009762|PMID:20127975|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:30303587|PMID:30311386|PMID:30394532|PMID:32747562|PMID:7778600|PMID:8001158|PMID:8001159|PMID:8634719|PMID:8852659|PMID:8852660 2536 Ednrb endothelin receptor type B gene DOID:10003 sensorineural hearing loss IAGP D RGD:6480217|PMID:21915282 20161031 RGD DNA:mutation:cds: 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease IAGP D RGD:1342447|PMID:8589685 20061030 RGD 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease IAGP D RGD:6480215|PMID:22132166 20210218 RGD 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease IAGP D RGD:6480217|PMID:21915282 20210218 RGD 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8896568 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:1601008|PMID:8001158 20070403 RGD DNA:point mutation:exon:W276C 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:7240710 20230517 OMIM 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10458491|PMID:10664228|PMID:10874640|PMID:12628594|PMID:14633923|PMID:16145050|PMID:16518596|PMID:16944573|PMID:16954478|PMID:17011274|PMID:17223014|PMID:17618893|PMID:18162831|PMID:18633623|PMID:18758497|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27639823|PMID:28492532|PMID:29407415|PMID:30218169|PMID:30303587|PMID:32747562|PMID:8001158|PMID:8852658|PMID:8852659|PMID:8852660|PMID:9359036|PMID:9760196 2536 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease treatment IMP D RGD:628516|PMID:9739043 20161109 RGD 2536 Ednrb endothelin receptor type B gene DOID:10762 portal hypertension IMP D RGD:4892595|PMID:17214938 20110225 RGD 2536 Ednrb endothelin receptor type B gene DOID:10763 hypertension IEP D RGD:4892284|PMID:20144075 20110217 RGD associated with Uremia 2536 Ednrb endothelin receptor type B gene DOID:10763 hypertension IMP D RGD:628518|PMID:10749572 20171204 RGD 2536 Ednrb endothelin receptor type B gene DOID:11372 megacolon IAGP D RGD:628515|PMID:8570650 20061030 RGD 2536 Ednrb endothelin receptor type B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 2536 Ednrb endothelin receptor type B gene DOID:2527 nephrosis ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 2536 Ednrb endothelin receptor type B gene DOID:2841 asthma IEP D RGD:4892324|PMID:15245576 20110221 RGD mRNA:increased expression:bronchus, smooth muscle cell 2536 Ednrb endothelin receptor type B gene DOID:2841 asthma ISO RGD:10505 D RGD:4892288|PMID:18632188 20110217 RGD 2536 Ednrb endothelin receptor type B gene DOID:2841 asthma ISO RGD:736090 D RGD:4892321|PMID:17470272 20110221 RGD DNA:polymorphism (human) 2536 Ednrb endothelin receptor type B gene DOID:5844 myocardial infarction IDA D RGD:1580948|PMID:12524016 19990101 RGD 2536 Ednrb endothelin receptor type B gene DOID:6000 congestive heart failure ISO RGD:736090 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 2536 Ednrb endothelin receptor type B gene DOID:614 lymphopenia IAGP D RGD:7207471|PMID:22975636 20161031 RGD 2536 Ednrb endothelin receptor type B gene DOID:630 genetic disease ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 2536 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension IDA D RGD:1580949|PMID:15243299 19990101 RGD 2536 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension IMP D RGD:4892289|PMID:18091567 20110217 RGD 2536 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15927975 2536 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:4144877|PMID:20562228 20110217 RGD 2536 Ednrb endothelin receptor type B gene DOID:900 hepatopulmonary syndrome IEP D RGD:4892290|PMID:17110505 20110217 RGD protein:increased expression:lung 2536 Ednrb endothelin receptor type B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 2536 Ednrb endothelin receptor type B gene DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480215|PMID:22132166 20210218 RGD 2536 Ednrb endothelin receptor type B gene DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480217|PMID:21915282 20170329 RGD 2536 Ednrb endothelin receptor type B gene DOID:9003546 Total Intestinal Aganglionosis ISO RGD:736090 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Aganglionosis, total intestinal PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 2536 Ednrb endothelin receptor type B gene DOID:9004009 Reperfusion Injury IEP D RGD:4892577|PMID:18722366 20110224 RGD 2536 Ednrb endothelin receptor type B gene DOID:9004538 Hearing Loss ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:30311386|PMID:32747562 2536 Ednrb endothelin receptor type B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 2536 Ednrb endothelin receptor type B gene DOID:9005027 Waardenburg Syndrome Type 4 IAGP D RGD:6480217|PMID:21915282 20170329 RGD 2536 Ednrb endothelin receptor type B gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:736090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 2536 Ednrb endothelin receptor type B gene DOID:9005660 Hypopigmentation IAGP D RGD:10755346|PMID:26796131 20210218 RGD compared to LE/Hkv.AR-Ednrbsl 2536 Ednrb endothelin receptor type B gene DOID:9007102 Myocardial Ischemia ISO RGD:736090 D RGD:1580946|PMID:14729387 19990101 RGD 2536 Ednrb endothelin receptor type B gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:4892332|PMID:21048781 20110222 RGD 2536 Ednrb endothelin receptor type B gene DOID:9008091 Optic Nerve Injuries IEP D RGD:4892579|PMID:18600494 20110224 RGD mRNA:increased expression:retina 2536 Ednrb endothelin receptor type B gene DOID:9008539 Perinatal Death IAGP D RGD:628515|PMID:8570650 20210408 RGD 2536 Ednrb endothelin receptor type B gene DOID:9008939 Breast Neoplasms ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16244791 2536 Ednrb endothelin receptor type B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10693666 2536 Ednrb endothelin receptor type B gene DOID:9258 Waardenburg's syndrome ISO RGD:736090 D RGD:1601006|PMID:8634719 20070403 RGD Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:point mutation:exon:A183G 2536 Ednrb endothelin receptor type B gene DOID:9258 Waardenburg's syndrome ISO RGD:736090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 2536 Ednrb endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2313280|PMID:19286964 20110221 RGD 2536 Ednrb endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 2538 Eef2k eukaryotic elongation factor-2 kinase gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1351780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 2538 Eef2k eukaryotic elongation factor-2 kinase gene DOID:10652 Alzheimer's disease ISO RGD:1351780 D RGD:10401651|PMID:16098202 20151006 RGD 2538 Eef2k eukaryotic elongation factor-2 kinase gene DOID:12849 autistic disorder ISO RGD:1351780 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2538 Eef2k eukaryotic elongation factor-2 kinase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1351780 D RGD:153298964|PMID:30522114 20220801 RGD Human cells in mouse model 2538 Eef2k eukaryotic elongation factor-2 kinase gene DOID:5419 schizophrenia ISO RGD:1351780 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2538 Eef2k eukaryotic elongation factor-2 kinase gene DOID:630 genetic disease ISO RGD:1351780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2540 Efnb1 ephrin B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737327 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2540 Efnb1 ephrin B1 gene DOID:0081044 frontonasal dysplasia ISO RGD:737327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 2540 Efnb1 ephrin B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:737327 D RGD:153323289|PMID:12136247 20220811 RGD mRNA:increased expression:stomach (human) 2540 Efnb1 ephrin B1 gene DOID:12849 autistic disorder ISO RGD:737327 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2540 Efnb1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15124102|PMID:15166289|PMID:16639408|PMID:16685650|PMID:17941886|PMID:18043713 2540 Efnb1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:7240710 20130425 OMIM 2540 Efnb1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofrontonasal syndrome PMID:1468459|PMID:15124102|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18043713|PMID:18627045|PMID:20565770|PMID:23335590|PMID:25486017|PMID:25741868|PMID:26586496|PMID:27194971|PMID:28492532|PMID:31837199|PMID:6627724 2540 Efnb1 ephrin B1 gene DOID:1934 dysostosis ISO RGD:737327 D RGD:1599802|PMID:15124102 20070215 RGD DNA:missense mutations, deletion 2540 Efnb1 ephrin B1 gene DOID:2340 craniosynostosis ISO RGD:737327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 2540 Efnb1 ephrin B1 gene DOID:630 genetic disease ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11780069|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18627045|PMID:27884935|PMID:31862858 2540 Efnb1 ephrin B1 gene DOID:9003133 Hypertelorism ISO RGD:737327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 2540 Efnb1 ephrin B1 gene DOID:9005372 Inflammation ISO RGD:737327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 2540 Efnb1 ephrin B1 gene DOID:9970 obesity ISO RGD:737327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 2541 Efnb3 ephrin B3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2541 Efnb3 ephrin B3 gene DOID:12177 common variable immunodeficiency ISO RGD:1346330 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2541 Efnb3 ephrin B3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 2541 Efnb3 ephrin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 2541 Efnb3 ephrin B3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 2541 Efnb3 ephrin B3 gene DOID:480 movement disease ISS RGD:10509 D RGD:13592920 20180518 MouseDO 2541 Efnb3 ephrin B3 gene DOID:630 genetic disease ISO RGD:1346330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2542 Egf epidermal growth factor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:736832 D RGD:2317668|PMID:10811321 20100415 RGD protein:increased expression:saliva 2542 Egf epidermal growth factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:736832 D RGD:10059681|PMID:24119107 20150825 RGD protein:increased expression:plasma 2542 Egf epidermal growth factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 2542 Egf epidermal growth factor gene DOID:0060879 primary hypomagnesemia ISO RGD:736832 D RGD:6906911|PMID:17671655 20121019 RGD 2542 Egf epidermal growth factor gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 2542 Egf epidermal growth factor gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 2542 Egf epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:7240710 20170412 OMIM 2542 Egf epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 PMID:17576681|PMID:17671655|PMID:25741868|PMID:28492532|PMID:9536098 2542 Egf epidermal growth factor gene DOID:0080162 lupus nephritis ISO RGD:736832 D RGD:5688301|PMID:21354048 20121019 RGD 2542 Egf epidermal growth factor gene DOID:10652 Alzheimer's disease ISO RGD:736832 D RGD:10059680|PMID:21875409 20150825 RGD protein:decreased expression:platelet 2542 Egf epidermal growth factor gene DOID:10808 gastric ulcer ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: therapeutic PMID:9324159|PMID:9479624 2542 Egf epidermal growth factor gene DOID:12385 shigellosis treatment ISO RGD:10510 D RGD:39938959|PMID:30615126 20201022 RGD 2542 Egf epidermal growth factor gene DOID:12849 autistic disorder ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:17626784 2542 Egf epidermal growth factor gene DOID:1380 endometrial cancer severity ISO RGD:736832 D RGD:13673915|PMID:19319135 20180706 RGD DNA:snps:5'utr:multiple (human) 2542 Egf epidermal growth factor gene DOID:14330 Parkinson's disease disease_progression ISO RGD:736832 D RGD:10059679|PMID:21520231 20150825 RGD 2542 Egf epidermal growth factor gene DOID:1793 pancreatic cancer ISO RGD:736832 D RGD:5490965|PMID:19506583 20110921 RGD 2542 Egf epidermal growth factor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736832 D RGD:2317650|PMID:1347773 20100414 RGD protein:increased expression:pancreas 2542 Egf epidermal growth factor gene DOID:2394 ovarian cancer ISO RGD:736832 D RGD:13673914|PMID:22914212 20180706 RGD protein:increased expression:serum (human) 2542 Egf epidermal growth factor gene DOID:2723 dermatitis ISO RGD:736832 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 2542 Egf epidermal growth factor gene DOID:299 adenocarcinoma ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:23064031 2542 Egf epidermal growth factor gene DOID:3021 acute kidney failure IEP D RGD:10395241|PMID:11340354 20150826 RGD mRNA:decreased expression:kidney 2542 Egf epidermal growth factor gene DOID:3021 acute kidney failure ISO RGD:736832 D RGD:6906908|PMID:20482449 20121019 RGD 2542 Egf epidermal growth factor gene DOID:3068 glioblastoma ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 2542 Egf epidermal growth factor gene DOID:3068 glioblastoma susceptibility ISO RGD:736832 D RGD:13702472|PMID:22481252 20180718 RGD DNA:polymorphism:promoter:+61A>G(human) 2542 Egf epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:13702473|PMID:22106858 20180718 RGD DNA:polymorphism:promoter:+61A>G(human) 2542 Egf epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:13702474|PMID:17473192 20180718 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. 2542 Egf epidermal growth factor gene DOID:3121 gallbladder cancer ISO RGD:736832 D RGD:2317646|PMID:8093356 20100414 RGD 2542 Egf epidermal growth factor gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736832 D RGD:2317641|PMID:18571008 20100414 RGD DNA:SNP: :+61A>G (rs4444903)(human) 2542 Egf epidermal growth factor gene DOID:3181 oligodendroglioma susceptibility ISO RGD:736832 D RGD:13702474|PMID:17473192 20180718 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. 2542 Egf epidermal growth factor gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736832 D RGD:2317644|PMID:18505086 20100414 RGD protein:increased expression: : 2542 Egf epidermal growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:17266442 2542 Egf epidermal growth factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736832 D RGD:13464350|PMID:25992884 20180104 RGD 2542 Egf epidermal growth factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736832 D RGD:13464348|PMID:26927662 20180104 RGD 2542 Egf epidermal growth factor gene DOID:3910 lung adenocarcinoma ISO RGD:736832 D RGD:11538684|PMID:26625757 20180104 RGD DNA:polymorphism: :p.A61G (human) 2542 Egf epidermal growth factor gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736832 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 2542 Egf epidermal growth factor gene DOID:4989 pancreatitis ISO RGD:736832 D RGD:2317638|PMID:20127414 20100414 RGD protein:decreased expression:serum 2542 Egf epidermal growth factor gene DOID:5419 schizophrenia ISO RGD:736832 D RGD:5131451|PMID:12192610 20150825 RGD protein:decreased expression:brain, serum 2542 Egf epidermal growth factor gene DOID:552 pneumonia resistance ISO RGD:10510 D RGD:6906904|PMID:21701422 20121019 RGD 2542 Egf epidermal growth factor gene DOID:557 kidney disease ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 2542 Egf epidermal growth factor gene DOID:630 genetic disease ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2542 Egf epidermal growth factor gene DOID:674 cleft palate ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:11399798 2542 Egf epidermal growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2542 Egf epidermal growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 2542 Egf epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:14695013|PMID:18167406 20190628 RGD associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903) (human) 2542 Egf epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:14695014|PMID:23790025 20190628 RGD associated with hepatitis B;DNA:SNP:exon: (rs11569017) (human) 2542 Egf epidermal growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment IDA D RGD:10395236|PMID:18607263 20150826 RGD 2542 Egf epidermal growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment IDA D RGD:2317627|PMID:19390485 20100413 RGD 2542 Egf epidermal growth factor gene DOID:9000156 Metaplasia ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 2542 Egf epidermal growth factor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 2542 Egf epidermal growth factor gene DOID:9000918 Disease Progression ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:21794976 2542 Egf epidermal growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:21942447|PMID:23064031 2542 Egf epidermal growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2542 Egf epidermal growth factor gene DOID:9001600 Wounds and Injuries IEP D RGD:6906918|PMID:15885173 20121019 RGD 2542 Egf epidermal growth factor gene DOID:9001600 Wounds and Injuries ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: therapeutic PMID:21967610 2542 Egf epidermal growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736832 D RGD:6906912|PMID:17475821 20121019 RGD 2542 Egf epidermal growth factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:16340751 2542 Egf epidermal growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2542 Egf epidermal growth factor gene DOID:9004009 Reperfusion Injury resistance ISO RGD:736832 D RGD:6906916|PMID:16417467 20121019 RGD 2542 Egf epidermal growth factor gene DOID:9004210 Tympanic Membrane Perforation treatment ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:1437205|REF_RGD_ID:11556276 2542 Egf epidermal growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:15802018|PMID:22869556|PMID:23064031|PMID:24587105|PMID:27634460 2542 Egf epidermal growth factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:12687016|PMID:18245498|PMID:18995957 2542 Egf epidermal growth factor gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:736832 D RGD:13432197|PMID:25416211 20170925 RGD protein:increased expression:plasma (human) 2542 Egf epidermal growth factor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736832 D RGD:38599160|PMID:25051417 20200911 RGD associated with gastritis; 2542 Egf epidermal growth factor gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:736832 D RGD:6906909|PMID:19357719 20121019 RGD 2542 Egf epidermal growth factor gene DOID:9008939 Breast Neoplasms ISO RGD:736832 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:16175315|PMID:21942447|PMID:23064031 2543 Egfr epidermal growth factor receptor gene DOID:0050424 familial adenomatous polyposis ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 2543 Egfr epidermal growth factor receptor gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69152 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 2543 Egfr epidermal growth factor receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10511 D RGD:8551769|PMID:19380367 20140410 RGD 2543 Egfr epidermal growth factor receptor gene DOID:0050866 oral squamous cell carcinoma ISO RGD:69152 D RGD:126781761|PMID:11673832 20210420 RGD 2543 Egfr epidermal growth factor receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:69152 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 2543 Egfr epidermal growth factor receptor gene DOID:0080599 Coronavirus infectious disease ISS RGD:10511 D RGD:13592920 20200730 MouseDO 2543 Egfr epidermal growth factor receptor gene DOID:0080855 Parkinsonism IEP D RGD:2289955|PMID:15857400 20080220 RGD protein:decreased expression:striatum 2543 Egfr epidermal growth factor receptor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9486961 2543 Egfr epidermal growth factor receptor gene DOID:10283 prostate cancer ISO RGD:69152 D RGD:2293731|PMID:18467313 20080611 RGD 2543 Egfr epidermal growth factor receptor gene DOID:10534 stomach cancer treatment ISO RGD:10511 D RGD:38599214|PMID:28473630 20200915 RGD associated with Helicobacter Infections 2543 Egfr epidermal growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10511 D RGD:10059684|PMID:23019586 20150825 RGD 2543 Egfr epidermal growth factor receptor gene DOID:10763 hypertension IEP D RGD:1580953|PMID:15827348 19990101 RGD mRNA, protein:increased expression:renal cortex 2543 Egfr epidermal growth factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:23523951 2543 Egfr epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:2289943|PMID:18006009 20080220 RGD protein:increased expression:urinary bladder 2543 Egfr epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:2298502|PMID:16685269 20080703 RGD 2543 Egfr epidermal growth factor receptor gene DOID:1107 esophageal carcinoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:15623594|PMID:16205628|PMID:16707764|PMID:16863509|PMID:17653080|PMID:19147750|PMID:19536777|PMID:20522446|PMID:22753918|PMID:23102728|PMID:24033266|PMID:25157968|PMID:25521405|PMID:26051236|PMID:29141884 2543 Egfr epidermal growth factor receptor gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:69152 D RGD:38599177|PMID:31430224 20200911 RGD associated with squamous cell carcinoma 2543 Egfr epidermal growth factor receptor gene DOID:11934 head and neck cancer ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:18089823|PMID:18355544|PMID:21172876|PMID:21274259|PMID:23380224|PMID:23578570|PMID:24934779|PMID:25057940|PMID:25157968|PMID:25176975|PMID:28492532|PMID:34012789 2543 Egfr epidermal growth factor receptor gene DOID:127 leiomyoma ISO RGD:69152 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 2543 Egfr epidermal growth factor receptor gene DOID:12849 autistic disorder ISO RGD:69152 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2543 Egfr epidermal growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:10511 D RGD:10047165|PMID:12890790 20150825 RGD 2543 Egfr epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy IMP D RGD:7204501|PMID:22646904 20121221 RGD 2543 Egfr epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18599591 2543 Egfr epidermal growth factor receptor gene DOID:1307 dementia ISO RGD:69152 D RGD:10059682|PMID:2354367 20150825 RGD 2543 Egfr epidermal growth factor receptor gene DOID:1324 lung cancer ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15728811|PMID:15737014|PMID:15897572|PMID:15901872|PMID:16115929|PMID:16187797|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18303429|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26066407|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:26901136|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29228562|PMID:29576263|PMID:29625052|PMID:29945477|PMID:30610926|PMID:31314158|PMID:31779674|PMID:33326033|PMID:33644199|PMID:33898318|PMID:34555730 2543 Egfr epidermal growth factor receptor gene DOID:13976 peptic esophagitis IEP D RGD:10395244|PMID:11966524 20150826 RGD mRNA, protein:increased expression:esophagus, basal cell 2543 Egfr epidermal growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:69152 D RGD:2289955|PMID:15857400 20080220 RGD protein:decreased expression:forebrain 2543 Egfr epidermal growth factor receptor gene DOID:1612 breast cancer ISO RGD:69152 D RGD:2289949|PMID:17465220 20080220 RGD mRNA:increased expression:breast 2543 Egfr epidermal growth factor receptor gene DOID:1712 aortic valve stenosis ISO RGD:10511 D RGD:734918|PMID:10700187 19990101 RGD 2543 Egfr epidermal growth factor receptor gene DOID:1749 squamous cell carcinoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12942316|PMID:22042947|PMID:22948846 2543 Egfr epidermal growth factor receptor gene DOID:1749 squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:25157968|PMID:27993330 2543 Egfr epidermal growth factor receptor gene DOID:1790 malignant mesothelioma ISO RGD:69152 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 2543 Egfr epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27720938 2543 Egfr epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:5131631|PMID:17452677 20110506 RGD 2543 Egfr epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:5490965|PMID:19506583 20110921 RGD 2543 Egfr epidermal growth factor receptor gene DOID:1969 cerebral palsy ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532|PMID:28726809|PMID:29899996|PMID:7630400 2543 Egfr epidermal growth factor receptor gene DOID:1984 rectal benign neoplasm ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16839708 2543 Egfr epidermal growth factor receptor gene DOID:2394 ovarian cancer ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25382819|PMID:25741868|PMID:28492532 2543 Egfr epidermal growth factor receptor gene DOID:2615 papilloma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 2543 Egfr epidermal growth factor receptor gene DOID:2615 papilloma susceptibility ISO RGD:10511 D RGD:734919|PMID:10943841 19990101 RGD 2543 Egfr epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:10395259|PMID:3499520 20150827 RGD 2543 Egfr epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:2289980|PMID:16469638 20080221 RGD mRNA:decreased expression:urinary bladder 2543 Egfr epidermal growth factor receptor gene DOID:2723 dermatitis ISO RGD:69152 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 2543 Egfr epidermal growth factor receptor gene DOID:2841 asthma IEP D RGD:5131870|PMID:19954006 20110512 RGD protein:increased expression:lung epithelium (rat) 2543 Egfr epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:5131633|PMID:21224214 20110506 RGD 2543 Egfr epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:5131642|PMID:21072743 20110509 RGD protein:increased expression:lung epithelium (mouse) 2543 Egfr epidermal growth factor receptor gene DOID:2841 asthma severity ISO RGD:69152 D RGD:5131468|PMID:12580917 20110428 RGD protein:increased expression:bronchial epithelium (human) 2543 Egfr epidermal growth factor receptor gene DOID:2871 endometrial carcinoma ISO RGD:69152 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 2543 Egfr epidermal growth factor receptor gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:69152 D RGD:126790474|PMID:22549618 20210422 RGD 2543 Egfr epidermal growth factor receptor gene DOID:289 endometriosis ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2543 Egfr epidermal growth factor receptor gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10511 D RGD:38599178|PMID:28404843 20200911 RGD 2543 Egfr epidermal growth factor receptor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69152 D RGD:38599162|PMID:29621876 20200911 RGD associated with lung adenocarcinoma; 2543 Egfr epidermal growth factor receptor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69152 D RGD:38599176|PMID:22173705 20200911 RGD associated with lung adenocarcinoma; 2543 Egfr epidermal growth factor receptor gene DOID:299 adenocarcinoma ISO RGD:69152 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:2523869|PMID:20934974|PMID:21541241|PMID:22042947|PMID:27720938 2543 Egfr epidermal growth factor receptor gene DOID:3021 acute kidney failure IEP D RGD:10395241|PMID:11340354 20150826 RGD mRNA:increased expression:kidney 2543 Egfr epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14638913 2543 Egfr epidermal growth factor receptor gene DOID:305 carcinoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 2543 Egfr epidermal growth factor receptor gene DOID:3068 glioblastoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19204207|PMID:23917401|PMID:26455392 2543 Egfr epidermal growth factor receptor gene DOID:3068 glioblastoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15738541|PMID:16011858|PMID:16115929|PMID:17177598|PMID:18199554|PMID:18458038|PMID:19536777|PMID:19671738|PMID:19922469|PMID:20479403|PMID:21531810|PMID:21841502|PMID:22753918|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23945392|PMID:24033266|PMID:25157968|PMID:26619011|PMID:31396478 2543 Egfr epidermal growth factor receptor gene DOID:3070 high grade glioma ISO RGD:69152 D RGD:5131512|PMID:7606735 20110502 RGD protein:alternative form:tumor (human) 2543 Egfr epidermal growth factor receptor gene DOID:3070 high grade glioma ISO RGD:69152 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:17177598|PMID:26619011 2543 Egfr epidermal growth factor receptor gene DOID:3070 high grade glioma treatment IMP D RGD:38599219|PMID:10616092 20200915 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:7204496|PMID:22732689 20121220 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69152 D RGD:5131627|PMID:16393673 20110506 RGD protein:increased expression:bronchial epithelium (human) 2543 Egfr epidermal growth factor receptor gene DOID:3347 osteosarcoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 2543 Egfr epidermal growth factor receptor gene DOID:3459 breast carcinoma ISO RGD:69152 D RGD:2293732|PMID:18413808 20080611 RGD DNA:amplification:cds, 3' utr (human) 2543 Egfr epidermal growth factor receptor gene DOID:3459 breast carcinoma disease_progression ISO RGD:69152 D RGD:2293728|PMID:18522728 20080611 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69152 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21947696 2543 Egfr epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:23485129|PMID:25157968 2543 Egfr epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:69152 D RGD:5131486|PMID:10385363 20110429 RGD protein:increased expression:esophagus (human) 2543 Egfr epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis IEP D RGD:5131873|PMID:7524566 20110512 RGD mRNA:increased expression:lung (rat) 2543 Egfr epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10511 D RGD:5131634|PMID:21177177 20110506 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10511 D RGD:5131638|PMID:8879184 20110509 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3905 lung carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15788655|PMID:15897572|PMID:15901872|PMID:16043828|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16533793|PMID:16857818|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17236554|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17368623|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:17904685|PMID:17941001|PMID:17973572|PMID:18000506|PMID:18093943|PMID:18176089|PMID:18227510|PMID:18261621|PMID:18303429|PMID:18372921|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096301|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22483783|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23026641|PMID:23102728|PMID:23371856|PMID:23468066|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23912954|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28947568|PMID:30610926|PMID:31314158|PMID:31779674|PMID:32913967|PMID:33326033|PMID:33707471 2543 Egfr epidermal growth factor receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15623594|PMID:15897572|PMID:16043828|PMID:16205628|PMID:16707764|PMID:16863509|PMID:16931592|PMID:17368623|PMID:17653080|PMID:17973572|PMID:18000506|PMID:18372921|PMID:18509184|PMID:19147750|PMID:19536777|PMID:19922469|PMID:20522446|PMID:20942962|PMID:22753918|PMID:23102728|PMID:23945392|PMID:24033266|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25741868|PMID:26051236|PMID:26619011|PMID:27294619|PMID:28492532|PMID:29141884|PMID:30098700|PMID:30610926|PMID:32171629|PMID:32978515|PMID:32978518 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21336183|PMID:21440325|PMID:21478906|PMID:21777763|PMID:21782507|PMID:21791641|PMID:21904575|PMID:21933749|PMID:22286583|PMID:22617245|PMID:22751098|PMID:22787409|PMID:22787412|PMID:22948846|PMID:23435014|PMID:24467950 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:1601010|PMID:15118073 20070403 RGD DNA:deletion:cds:2240del18 (human) 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:5131629|PMID:21439671 20110506 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:5133241|PMID:20519133 20110608 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:5133242|PMID:20951313 20110608 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma | ClinVar Annotator: match by term: Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15681531|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15738541|PMID:15741570|PMID:15788655|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16187797|PMID:16199108|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16205628|PMID:16258541|PMID:16467085|PMID:16533793|PMID:16707764|PMID:16730855|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17545553|PMID:17653080|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18089823|PMID:18093943|PMID:18176089|PMID:18199554|PMID:18227510|PMID:18303429|PMID:18325048|PMID:18334834|PMID:18372921|PMID:18408761|PMID:18450321|PMID:18458038|PMID:18509184|PMID:18596266|PMID:18628075|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20522446|PMID:20559149|PMID:20573926|PMID:20808254|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21572125|PMID:21592614|PMID:21670455|PMID:21718596|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23468066|PMID:23485129|PMID:23540867|PMID:23800712|PMID:23816960|PMID:23816963|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:24894453|PMID:24934779|PMID:25061320|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26051236|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29100434|PMID:29141884|PMID:29576263|PMID:29945477|PMID:30610926|PMID:31396478|PMID:31779674|PMID:33644199|PMID:33898318|PMID:34555730 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:69152 D RGD:151357000|PMID:32276600 20220223 RGD human cells in mouse model 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:69152 D RGD:153344584|PMID:31205511 20220829 RGD human cells in mouse model 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69152 D RGD:126790479|PMID:11789762 20210422 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:69152 D RGD:5131640|PMID:21124077 20110509 RGD protein:decreased expression:tumor (human) 2543 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69152 D RGD:13464349|PMID:27040853 20180104 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma ISO RGD:69152 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:22071784|PMID:22135231|PMID:28144970 2543 Egfr epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15737014|PMID:15738541|PMID:15897572|PMID:15901872|PMID:16011858|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17877814|PMID:18199554|PMID:18303429|PMID:18408761|PMID:18458038|PMID:18509184|PMID:19096302|PMID:19147750|PMID:19455431|PMID:19536777|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20038723|PMID:20479403|PMID:20573926|PMID:20942962|PMID:21132006|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21900837|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23816960|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24212795|PMID:24439929|PMID:24736073|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25382819|PMID:25741868|PMID:26066407|PMID:26490356|PMID:26515464|PMID:26619011|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:29228562|PMID:30098700|PMID:30610926|PMID:31396478|PMID:31779674|PMID:32171629|PMID:32978515|PMID:32978518 2543 Egfr epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:69152 D RGD:126790475|PMID:26824984 20210422 RGD 2543 Egfr epidermal growth factor receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23585556 2543 Egfr epidermal growth factor receptor gene DOID:4450 renal cell carcinoma ISO RGD:69152 D RGD:2293730|PMID:18467719 20080611 RGD protein:increased expression:tumor 2543 Egfr epidermal growth factor receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69152 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2543 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma IMP D RGD:11075076|PMID:26059825 20160505 RGD DNA:mutations:exons: 2543 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:5131465|PMID:15737014 20110428 RGD DNA:snp:cds:p.T790M (human) 2543 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:5131630|PMID:21419590 20110506 RGD protein:increased expression:tumor (human) 2543 Egfr epidermal growth factor receptor gene DOID:4947 cholangiocarcinoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17341899 2543 Egfr epidermal growth factor receptor gene DOID:5082 liver cirrhosis severity ISO RGD:69152 D RGD:14401722|PMID:28650518 20190515 RGD associated with non-alcoholic fatty liver disease;protein:increased expression:plasma 2543 Egfr epidermal growth factor receptor gene DOID:5409 lung small cell carcinoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20837450 2543 Egfr epidermal growth factor receptor gene DOID:5419 schizophrenia ISO RGD:69152 D RGD:5131451|PMID:12192610 20110427 RGD protein:increased expression:prefrontal cortex (human) 2543 Egfr epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29945477|PMID:31775759|PMID:34555730 2543 Egfr epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29576263|PMID:29945477|PMID:31775759|PMID:33644199|PMID:33898318|PMID:34555730 2543 Egfr epidermal growth factor receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 2543 Egfr epidermal growth factor receptor gene DOID:571 median neuropathy IEP D RGD:126790486|PMID:18845940 20210422 RGD 2543 Egfr epidermal growth factor receptor gene DOID:62 aortic valve disease ISS RGD:10511 D RGD:13592920 20180518 MouseDO 2543 Egfr epidermal growth factor receptor gene DOID:630 genetic disease ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2543 Egfr epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:10511 D RGD:5131639|PMID:12896876 20110509 RGD 2543 Egfr epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:69152 D RGD:5131626|PMID:21492463 20110506 RGD protein:increased expression:lung, arteriole (human) 2543 Egfr epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 2543 Egfr epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69152 D RGD:126781769|PMID:11355950 20210420 RGD 2543 Egfr epidermal growth factor receptor gene DOID:850 lung disease IEP D RGD:1578630|PMID:9700116 20110509 RGD Acute Lung Injury; mRNA:increased expression:lung (rat) 2543 Egfr epidermal growth factor receptor gene DOID:8947 diabetic retinopathy ISO RGD:69152 D RGD:1580957|PMID:7947554 19990101 RGD protein:increased expression:retina 2543 Egfr epidermal growth factor receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:10511 D RGD:10059675|PMID:23831329 20150825 RGD associated with Diabetes Mellitus, Experimental 2543 Egfr epidermal growth factor receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 2543 Egfr epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5131454|PMID:21402118 20110428 RGD protein:increased phosphorylation:spinal cord, astrocyte (rat) 2543 Egfr epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5131525|PMID:20869112 20110503 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10511 D RGD:8551769|PMID:19380367 20140410 RGD associated with Squamous Cell Carcinoma of the Tongue 2543 Egfr epidermal growth factor receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21298351|PMID:21468131|PMID:22042947 2543 Egfr epidermal growth factor receptor gene DOID:9000184 Ventricular Fibrillation treatment IMP D RGD:38676260|PMID:22028338 20200916 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:21173787|PMID:22042947 2543 Egfr epidermal growth factor receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 2543 Egfr epidermal growth factor receptor gene DOID:9000918 Disease Progression ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20859196 2543 Egfr epidermal growth factor receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17369752|PMID:17575224|PMID:23867902 2543 Egfr epidermal growth factor receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10511 D RGD:38599215|PMID:30502657 20200915 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9001310 Tobacco Use Disorder IEP D RGD:5131452|PMID:21475988 20110428 RGD mRNA, protein:increased expression:lung (rat) 2543 Egfr epidermal growth factor receptor gene DOID:9001341 Chloracne ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 2543 Egfr epidermal growth factor receptor gene DOID:9002221 Hyperplasia IEP D RGD:5131466|PMID:21357274 20110428 RGD protein:increased expression:carotid artery (rat) 2543 Egfr epidermal growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15302576|PMID:17136230|PMID:17914592 2543 Egfr epidermal growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69152 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:23485129|PMID:25157968 2543 Egfr epidermal growth factor receptor gene DOID:9002457 Experimental Arthritis ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7589090 2543 Egfr epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16211241|PMID:21909139 2543 Egfr epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:2298499|PMID:18575766 20080703 RGD protein:decreased expression:ovary 2543 Egfr epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69152 D RGD:5131867|PMID:19058255 20110512 RGD protein:increased expression:mammary tumor cell, nucleus (human) 2543 Egfr epidermal growth factor receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69152 D RGD:5131868|PMID:20357714 20110512 RGD DNA:snps:multiple (human) 2543 Egfr epidermal growth factor receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:25200834 2543 Egfr epidermal growth factor receptor gene DOID:9002936 Bile Duct Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17341899 2543 Egfr epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18703609|PMID:20859196|PMID:21329967 2543 Egfr epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69152 D RGD:2289947|PMID:17465227 20080220 RGD protein:increased expression:uterine cervix 2543 Egfr epidermal growth factor receptor gene DOID:9003566 Mesothelioma ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21787763 2543 Egfr epidermal growth factor receptor gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:69152 D RGD:5131485|PMID:8883413 20110429 RGD protein:increased expression:tumor (human) 2543 Egfr epidermal growth factor receptor gene DOID:9003936 Cardiomegaly ISO RGD:10511 D RGD:1580954|PMID:15652507 19990101 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:69152 D RGD:2289951|PMID:11206334 20080220 RGD protein:increased expression:tumor 2543 Egfr epidermal growth factor receptor gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69152 D RGD:2289950|PMID:16962163 20080220 RGD mRNA:decreased expression:endometrium 2543 Egfr epidermal growth factor receptor gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69152 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:22885469 2543 Egfr epidermal growth factor receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:23867902 2543 Egfr epidermal growth factor receptor gene DOID:9004610 Acute Lung Injury ISO RGD:10511 D RGD:5131862|PMID:20935109 20110512 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1580955|PMID:12624003 19990101 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9004771 Vascular Remodeling treatment IMP D RGD:38599217|PMID:31264901 20200915 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21786012|PMID:22277784 2543 Egfr epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:18927287|PMID:19336973|PMID:20934974|PMID:21541241|PMID:23523951|PMID:27935865|PMID:29106415 2543 Egfr epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:5131628|PMID:11894009 20110506 RGD protein:increased expression:tumor (human) 2543 Egfr epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:7240710 20230505 OMIM 2543 Egfr epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16199547|PMID:16204070|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17332364|PMID:17473653|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18495026|PMID:18497962|PMID:18528899|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19844187|PMID:19922469|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21172876|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21274259|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21841502|PMID:21899495|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22270724|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23800712|PMID:23816963|PMID:23912954|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24691054|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24743239|PMID:24893891|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31290142|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33898318|PMID:34012789|PMID:34555730|PMID:7630400|PMID:9536098 2543 Egfr epidermal growth factor receptor gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21786012 2543 Egfr epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2523869|PMID:8603490 2543 Egfr epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:2289979|PMID:17203220 20080221 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9005372 Inflammation IMP D RGD:7204495|PMID:22824323 20121220 RGD associated with Spinal Cord Injuries 2543 Egfr epidermal growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:5131482|PMID:21330660 20150717 RGD protein:decreased tyrosine phosphorylation:cornea 2543 Egfr epidermal growth factor receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment IMP D RGD:38599217|PMID:31264901 20200915 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment IMP D RGD:38599217|PMID:31264901 20200915 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12942316|PMID:15342401|PMID:23917044 2543 Egfr epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:5131641|PMID:16467544 20110509 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:7240710 20230505 OMIM 2543 Egfr epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 PMID:24033266|PMID:24691054|PMID:24728327|PMID:25741868|PMID:26436111|PMID:28492532|PMID:32602142 2543 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26515464|PMID:26700910|PMID:26720284|PMID:27294619|PMID:28166811|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33707471|PMID:7630400|PMID:9536098 2543 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:34555730|PMID:7630400|PMID:9536098 2543 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33898318|PMID:34555730|PMID:7630400|PMID:9536098 2543 Egfr epidermal growth factor receptor gene DOID:9007502 Brain Neoplasms ISO RGD:69152 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:17177598|PMID:26619011 2543 Egfr epidermal growth factor receptor gene DOID:9007692 Insulin Resistance ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 2543 Egfr epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:10511 D RGD:38599214|PMID:28473630 20200915 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:69152 D RGD:38599160|PMID:25051417 20200911 RGD associated with gastritis; 2543 Egfr epidermal growth factor receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17575224|PMID:18998757 2543 Egfr epidermal growth factor receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15118073|PMID:15118125|PMID:15329413|PMID:15604253|PMID:15625347|PMID:15710947|PMID:15741570|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16204070|PMID:16467085|PMID:16533793|PMID:17192902|PMID:17285735|PMID:17473653|PMID:17904685|PMID:18176089|PMID:18325048|PMID:18334834|PMID:18948947|PMID:19536777|PMID:19844187|PMID:19922469|PMID:20479403|PMID:20559149|PMID:20808254|PMID:21057810|PMID:21317742|PMID:21527506|PMID:21592614|PMID:21841502|PMID:21899495|PMID:22019513|PMID:22270724|PMID:22753918|PMID:22809298|PMID:23102728|PMID:23468066|PMID:24033266|PMID:24039832|PMID:24894453|PMID:25061320|PMID:25157968|PMID:28286242|PMID:28492532|PMID:28838405|PMID:29100434|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031 2543 Egfr epidermal growth factor receptor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10319864 2543 Egfr epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16950593|PMID:18768436|PMID:19075277|PMID:20135347|PMID:20941507|PMID:23867902 2543 Egfr epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:10511 D RGD:5037225|PMID:21107114 20110509 RGD mRNA:increased expression:lung, tumor (mouse) 2543 Egfr epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:5131455|PMID:21398618 20110428 RGD human tumor in mouse model 2543 Egfr epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:5131632|PMID:15269313 20110506 RGD 2543 Egfr epidermal growth factor receptor gene DOID:9256 colorectal cancer resistance ISO RGD:69152 D RGD:5131871|PMID:20010090 20110512 RGD mRNA, protein:increased expression (human) 2543 Egfr epidermal growth factor receptor gene DOID:9351 diabetes mellitus ISO RGD:69152 D RGD:152975631|PMID:27411924 20220527 RGD associated with lung squamous cell carcinoma; protein:increased expression:lung (human) 2543 Egfr epidermal growth factor receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 2543 Egfr epidermal growth factor receptor gene DOID:9744 type 1 diabetes mellitus IEP D RGD:5131531|PMID:2833110 20110503 RGD protein:decreased phosphorylation:liver (rat) 2543 Egfr epidermal growth factor receptor gene DOID:9970 obesity ISO RGD:10511 D RGD:5131534|PMID:3624263 20110503 RGD protein:decreased phosphorylation:liver (mouse) 2544 Egr1 early growth response 1 gene DOID:0050328 congenital hypothyroidism IEP D RGD:10395304|PMID:23079472 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:0050908 myelodysplastic syndrome ISS RGD:10512 D RGD:13592920 20180518 MouseDO OMIM:614286 2544 Egr1 early growth response 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10512 D RGD:5131859|PMID:17420284 20110511 RGD 2544 Egr1 early growth response 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:737111 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 2544 Egr1 early growth response 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2544 Egr1 early growth response 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:10512 D RGD:5131859|PMID:17420284 20200626 RGD 2544 Egr1 early growth response 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:737111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 2544 Egr1 early growth response 1 gene DOID:10325 silicosis IEP D RGD:5131937|PMID:15033019 20110516 RGD protein:increased expression:lung, epithelial cell, macrophage (rat) 2544 Egr1 early growth response 1 gene DOID:10652 Alzheimer's disease ISO RGD:737111 D RGD:5131647|PMID:21489990 20110509 RGD protein:increased expression:temporal cortex, hippocampus (human) 2544 Egr1 early growth response 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10512 D RGD:10395277|PMID:21969301 20150827 RGD 2544 Egr1 early growth response 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10512 D RGD:10395279|PMID:23642031 20150827 RGD 2544 Egr1 early growth response 1 gene DOID:11111 hydronephrosis ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25015655 2544 Egr1 early growth response 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:10512 D RGD:5131902|PMID:16713977 20110516 RGD protein:increased expression:lung (mouse) 2544 Egr1 early growth response 1 gene DOID:11832 visual epilepsy IEP D RGD:10395306|PMID:23744421 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:12858 Huntington's disease ISO RGD:10512 D RGD:10395281|PMID:12191502 20150827 RGD 2544 Egr1 early growth response 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737111 D RGD:5131899|PMID:16933469 20110516 RGD protein:increased expression:lung (human) 2544 Egr1 early growth response 1 gene DOID:13580 cholestasis ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 2544 Egr1 early growth response 1 gene DOID:1612 breast cancer IEP D RGD:5131943|PMID:9212230 20110517 RGD protein:decreased expression:tumor (rat) 2544 Egr1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:737111 D RGD:5131943|PMID:9212230 20110517 RGD protein:decreased expression:tumor (human) 2544 Egr1 early growth response 1 gene DOID:1712 aortic valve stenosis ISO RGD:737111 D RGD:1626496|PMID:15597579 20070810 RGD protein:increased expression:aortic valve cusp 2544 Egr1 early growth response 1 gene DOID:1724 duodenal ulcer ISO RGD:10512 D RGD:8694318|PMID:24385009 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737111 D RGD:5131942|PMID:11948124 20110517 RGD mRNA:decreased expression:tumor (human) 2544 Egr1 early growth response 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2544 Egr1 early growth response 1 gene DOID:1826 epilepsy ISO RGD:10512 D RGD:5131860|PMID:21559295 20110512 RGD protein:increased expression:hippocampus (mouse) 2544 Egr1 early growth response 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18364083|PMID:22094456 2544 Egr1 early growth response 1 gene DOID:2316 brain ischemia ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 2544 Egr1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:5131652|PMID:14670837 20110510 RGD 2544 Egr1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:5131874|PMID:21099169 20110512 RGD protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse) 2544 Egr1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:737111 D RGD:5131645|PMID:10712437 20110509 RGD mRNA, protein:increased expression:carotid artery, plaque (human) 2544 Egr1 early growth response 1 gene DOID:2841 asthma ISO RGD:10512 D RGD:5131985|PMID:11254538 20110517 RGD 2544 Egr1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:5130915|PMID:18774390 20110518 RGD mRNA:increased expression:bronchoalveolar lavage cell (human) 2544 Egr1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:5131993|PMID:18507785 20110517 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) 2544 Egr1 early growth response 1 gene DOID:289 endometriosis IEP D RGD:10395305|PMID:23427178 20150901 RGD mRNA, protein:increased expression:ovary 2544 Egr1 early growth response 1 gene DOID:305 carcinoma disease_progression ISO RGD:10512 D RGD:5131888|PMID:19200397 20110513 RGD 2544 Egr1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10512 D RGD:5131878|PMID:20417178 20110513 RGD associated with Tobacco Use Disorder 2544 Egr1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737111 D RGD:5131854|PMID:15469929 20110511 RGD associated with Tobacco Use Disorder;mRNA:increased expression:lung (human) 2544 Egr1 early growth response 1 gene DOID:326 ischemia ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 2544 Egr1 early growth response 1 gene DOID:3347 osteosarcoma ISO RGD:737111 D RGD:5131662|PMID:21283769 20110510 RGD mRNA:decreased expression:tumor (human) 2544 Egr1 early growth response 1 gene DOID:3355 fibrosarcoma ISO RGD:10512 D RGD:5131944|PMID:7585551 20110517 RGD human tumor line expressing mouse gene in mouse model 2544 Egr1 early growth response 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:10395314|PMID:22645329 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:5131644|PMID:19679873 20110509 RGD 2544 Egr1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:5131877|PMID:20539010 20110513 RGD mRNA:increased expression:lung (mouse) 2544 Egr1 early growth response 1 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:737111 D RGD:4144870|PMID:19347046 20110513 RGD mRNA:increased expression:lung (human) 2544 Egr1 early growth response 1 gene DOID:3908 lung non-small cell carcinoma resistance ISO RGD:737111 D RGD:5131925|PMID:15774784 20110516 RGD mRNA:increased expression:tumor (human) 2544 Egr1 early growth response 1 gene DOID:417 autoimmune disease ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 2544 Egr1 early growth response 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:737111 D RGD:5131942|PMID:11948124 20110517 RGD mRNA:decreased expression:tumor (human) 2544 Egr1 early growth response 1 gene DOID:4989 pancreatitis IEP D RGD:5131939|PMID:16124058 20110516 RGD mRNA, protein:increased expression:pancreas (rat) 2544 Egr1 early growth response 1 gene DOID:5082 liver cirrhosis IEP D RGD:10395298|PMID:22292946 20150831 RGD protein:increased expression:liver, nucleus 2544 Egr1 early growth response 1 gene DOID:552 pneumonia ISO RGD:737111 D RGD:11554173 20181113 CTD CTD Direct Evidence: therapeutic PMID:29787794 2544 Egr1 early growth response 1 gene DOID:6132 bronchitis ISO RGD:10512 D RGD:5132266|PMID:17384085 20110518 RGD 2544 Egr1 early growth response 1 gene DOID:630 genetic disease ISO RGD:737111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2544 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension IEP D RGD:10395308|PMID:21924231 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension IEP D RGD:5131883|PMID:20023177 20110513 RGD mRNA, protein:increased expression:lung (rat) 2544 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:5131875|PMID:20889906 20110513 RGD 2544 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:5131890|PMID:18599502 20110513 RGD mRNA, protein:increased expression:lung (mouse) 2544 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:737111 D RGD:5131875|PMID:20889906 20110513 RGD protein:increased expression:lung (human) 2544 Egr1 early growth response 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2544 Egr1 early growth response 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737111 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2544 Egr1 early growth response 1 gene DOID:8398 osteoarthritis ISO RGD:737111 D RGD:1626498|PMID:10806043 20070810 RGD 2544 Egr1 early growth response 1 gene DOID:850 lung disease IEP D RGD:5131898|PMID:12816737 20110516 RGD Ventilator-Induced Lung Injury; mRNA:increased expression:lung (rat) 2544 Egr1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:5131881|PMID:20110555 20110513 RGD Ventilator-Induced Lung Injury 2544 Egr1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:5131893|PMID:18356564 20110516 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung (mouse) 2544 Egr1 early growth response 1 gene DOID:9001472 Nasal Polyps ISO RGD:737111 D RGD:4890001|PMID:19158123 20110513 RGD mRNA:increased expression:nasal polyp (human) 2544 Egr1 early growth response 1 gene DOID:9001488 Human Influenza ISO RGD:10512 D RGD:5131660|PMID:21289196 20110510 RGD mRNA:increased expression:frontal cortex (mouse) 2544 Egr1 early growth response 1 gene DOID:9001553 Spinal Cord Compression IEP D RGD:5131876|PMID:20675054 20110513 RGD protein:increased expression:spinal cord dorsal horn (rat) 2544 Egr1 early growth response 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16552752 2544 Egr1 early growth response 1 gene DOID:9002669 Hypoxia ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 2544 Egr1 early growth response 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10512 D RGD:5131872|PMID:19188657 20110512 RGD 2544 Egr1 early growth response 1 gene DOID:9003163 Heart Block ISO RGD:10512 D RGD:5131924|PMID:15809371 20110516 RGD mRNA:increased expression:heart (mouse) 2544 Egr1 early growth response 1 gene DOID:9003230 Graft Occlusion, Vascular treatment IMP D RGD:10395312|PMID:23586030 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9003566 Mesothelioma ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 2544 Egr1 early growth response 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:737111 D RGD:5131984|PMID:19833116 20110517 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) 2544 Egr1 early growth response 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2289081|PMID:7684483 20110510 RGD mRNA:increased expression:forebrain (rat) 2544 Egr1 early growth response 1 gene DOID:9003936 Cardiomegaly ISO RGD:10512 D RGD:5131654|PMID:16025126 20110510 RGD 2544 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:5131904|PMID:16488723 20110516 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (rat) 2544 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:5131887|PMID:19342415 20110513 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (mouse) 2544 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:5131903|PMID:16551742 20110516 RGD Lung Reperfusion Injury 2544 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 2544 Egr1 early growth response 1 gene DOID:9004118 Experimental Melanoma ISO RGD:10512 D RGD:5131885|PMID:19517020 20110513 RGD mRNA, protein:increased expression:salivary gland (mouse) 2544 Egr1 early growth response 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737111 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2544 Egr1 early growth response 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737111 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 2544 Egr1 early growth response 1 gene DOID:9005372 Inflammation ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22094456 2544 Egr1 early growth response 1 gene DOID:9005396 Intimal Hyperplasia treatment IMP D RGD:10395302|PMID:23774133 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16157275|PMID:16738229|PMID:18311559 2544 Egr1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders treatment IEP D RGD:10395309|PMID:25309368 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders treatment IEP D RGD:10400880|PMID:21309948 20150921 RGD 2544 Egr1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury IEP D RGD:10395299|PMID:23232597 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury treatment IMP D RGD:10395282|PMID:22878149 20150827 RGD 2544 Egr1 early growth response 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2544 Egr1 early growth response 1 gene DOID:9007877 Fetal Hypoxia IDA D RGD:10395301|PMID:23427086 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9008023 Memory Disorders treatment IEP D RGD:10395310|PMID:22192600 20150901 RGD associated with Congenital Hypothyroidism 2544 Egr1 early growth response 1 gene DOID:9008113 Tissue Adhesions IEP D RGD:5131938|PMID:14961185 20110516 RGD mRNA, protein:increased expression:peritoneum, adhesion (rat) 2544 Egr1 early growth response 1 gene DOID:9008331 Tendon Injuries treatment IDA D RGD:10395300|PMID:23519232 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9008394 Drug-Induced Dyskinesia IEP D RGD:10395307|PMID:22153973 20150901 RGD 2544 Egr1 early growth response 1 gene DOID:9008884 Decompression Sickness IEP D RGD:5131894|PMID:17310878 20110516 RGD mRNA:increased expression:lungs (rat) 2544 Egr1 early growth response 1 gene DOID:9446 cholangitis ISO RGD:737111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 2544 Egr1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:10512 D RGD:5131892|PMID:16601242 20110516 RGD associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse) 2544 Egr1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:737111 D RGD:5131973|PMID:11021835 20110517 RGD mRNA, protein:increased expression:lung (human) 2544 Egr1 early growth response 1 gene DOID:9675 pulmonary emphysema resistance ISO RGD:10512 D RGD:5131853|PMID:18830406 20110511 RGD 2545 Egr3 early growth response 3 gene DOID:0080600 COVID-19 ISO RGD:736598 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2545 Egr3 early growth response 3 gene DOID:630 genetic disease ISO RGD:736598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2545 Egr3 early growth response 3 gene DOID:9004866 Ataxia ISO RGD:736598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 2545 Egr3 early growth response 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 2546 Egr4 early growth response 4 gene DOID:0050473 Alstrom syndrome ISO RGD:735817 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 2546 Egr4 early growth response 4 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:735817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 2546 Egr4 early growth response 4 gene DOID:3525 middle cerebral artery infarction IEP D RGD:10395314|PMID:22645329 20150901 RGD 2546 Egr4 early growth response 4 gene DOID:543 dystonia ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 2546 Egr4 early growth response 4 gene DOID:630 genetic disease ISO RGD:735817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2546 Egr4 early growth response 4 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 2547 Cela1 chymotrypsin like elastase 1 gene DOID:630 genetic disease ISO RGD:736392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2547 Cela1 chymotrypsin like elastase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736392 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2547 Cela1 chymotrypsin like elastase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736392 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2548 Cela2a chymotrypsin like elastase 2A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602468 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2548 Cela2a chymotrypsin like elastase 2A gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:1602468 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:0080945 abdominal obesity-metabolic syndrome 4 ISO RGD:1602468 D RGD:7240710 20191030 OMIM 2548 Cela2a chymotrypsin like elastase 2A gene DOID:0080945 abdominal obesity-metabolic syndrome 4 ISO RGD:1602468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:10763 hypertension ISO RGD:1602468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602471 2548 Cela2a chymotrypsin like elastase 2A gene DOID:10763 hypertension ISO RGD:1602468 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertension PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:1936 atherosclerosis ISO RGD:1602468 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:3393 coronary artery disease ISO RGD:1602468 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:630 genetic disease ISO RGD:1602468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2548 Cela2a chymotrypsin like elastase 2A gene DOID:9006599 Hypertriglyceridemia ISO RGD:1602468 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:9006646 Metabolic Syndrome ISO RGD:1602468 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31358993 2548 Cela2a chymotrypsin like elastase 2A gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1602468 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 2548 Cela2a chymotrypsin like elastase 2A gene DOID:9351 diabetes mellitus ISO RGD:1602468 D RGD:8554872 20220301 ClinVar ClinVar Annotator: match by term: Diabetes PMID:31358993 2549 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:0060417 3p deletion syndrome ISO RGD:1352658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 2549 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1352658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 2549 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:630 genetic disease ISO RGD:1352658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2551 Emd emerin gene DOID:0050454 periventricular nodular heterotopia ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:18854860|PMID:19396829|PMID:19846429|PMID:20730588|PMID:20871226|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2551 Emd emerin gene DOID:0050476 Barth syndrome ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2551 Emd emerin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735605 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32860008 2551 Emd emerin gene DOID:0050700 cardiomyopathy ISO RGD:735605 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19377476|PMID:20474083|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:28492532|PMID:29961767|PMID:31024910 2551 Emd emerin gene DOID:0050800 creatine transporter deficiency ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2551 Emd emerin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735605 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2551 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:7240710 20180912 OMIM 2551 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10480214|PMID:11385714|PMID:15967842|PMID:16080119|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:31475473|PMID:32860008|PMID:34524739|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 2551 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:12872622|PMID:17576681|PMID:17620497|PMID:19377476|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31718017|PMID:8595406|PMID:9536098 2551 Emd emerin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 2551 Emd emerin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:27854218|PMID:28492532 2551 Emd emerin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735605 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 2551 Emd emerin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735605 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 2551 Emd emerin gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 2551 Emd emerin gene DOID:0112003 immunodeficiency 33 ISO RGD:735605 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2551 Emd emerin gene DOID:10588 adrenoleukodystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2551 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 2551 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:1598907|PMID:7894480 20061221 RGD 2551 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 2551 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:31024910|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 2551 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 2551 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 2551 Emd emerin gene DOID:12849 autistic disorder ISO RGD:735605 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2551 Emd emerin gene DOID:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:13592595|PMID:24997722 20180509 RGD DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human) 2551 Emd emerin gene DOID:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 2551 Emd emerin gene DOID:13628 favism ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 2551 Emd emerin gene DOID:2729 dyskeratosis congenita ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 2551 Emd emerin gene DOID:423 myopathy ISO RGD:735605 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 2551 Emd emerin gene DOID:440 neuromuscular disease ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10382909|PMID:10428430|PMID:1178008|PMID:18646565|PMID:1998333|PMID:21697856|PMID:24033266|PMID:7294729|PMID:8595407 2551 Emd emerin gene DOID:607 paraplegia ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2551 Emd emerin gene DOID:9002720 Splenomegaly ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2552 Emp1 epithelial membrane protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:735990 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 2552 Emp1 epithelial membrane protein 1 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:735990 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 2552 Emp1 epithelial membrane protein 1 gene DOID:630 genetic disease ISO RGD:735990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2552 Emp1 epithelial membrane protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2552 Emp1 epithelial membrane protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2552 Emp1 epithelial membrane protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:735990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2553 Eno1 enolase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 2553 Eno1 enolase 1 gene DOID:0080600 COVID-19 ISO RGD:735808 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2553 Eno1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 2553 Eno1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:13792613|PMID:17387692 20180918 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex 2553 Eno1 enolase 1 gene DOID:10763 hypertension IEP D RGD:1598909|PMID:16485256 20061221 RGD 2553 Eno1 enolase 1 gene DOID:11476 osteoporosis ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2553 Eno1 enolase 1 gene DOID:12336 male infertility ISO RGD:735808 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27460355 2553 Eno1 enolase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2553 Eno1 enolase 1 gene DOID:299 adenocarcinoma ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2553 Eno1 enolase 1 gene DOID:305 carcinoma ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2553 Eno1 enolase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 2553 Eno1 enolase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735808 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893|PMID:27602772 2553 Eno1 enolase 1 gene DOID:630 genetic disease ISO RGD:735808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2553 Eno1 enolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2553 Eno1 enolase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898480 2553 Eno1 enolase 1 gene DOID:8398 osteoarthritis ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2553 Eno1 enolase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 2553 Eno1 enolase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 2553 Eno1 enolase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2553 Eno1 enolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2553 Eno1 enolase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 2553 Eno1 enolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735808 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2553 Eno1 enolase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 2553 Eno1 enolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2553 Eno1 enolase 1 gene DOID:9006205 Animal Disease Models ISO RGD:735808 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2553 Eno1 enolase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2553 Eno1 enolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735808 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:25231249 2553 Eno1 enolase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19655245 2554 Eno2 enolase 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:733932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2554 Eno2 enolase 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:733932 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 2554 Eno2 enolase 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:733932 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 2554 Eno2 enolase 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:733932 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2554 Eno2 enolase 2 gene DOID:0080855 Parkinsonism IEP D RGD:2293747|PMID:17532790 20080611 RGD 2554 Eno2 enolase 2 gene DOID:0111621 Temtamy syndrome ISO RGD:733932 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2554 Eno2 enolase 2 gene DOID:10283 prostate cancer ISO RGD:733932 D RGD:2293734|PMID:15239127 20080611 RGD 2554 Eno2 enolase 2 gene DOID:10763 hypertension severity ISO RGD:733932 D RGD:5508770|PMID:21130083 20111021 RGD protein:increased expression:serum 2554 Eno2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 2554 Eno2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:2293738|PMID:17951193 20080611 RGD 2554 Eno2 enolase 2 gene DOID:11832 visual epilepsy IEP D RGD:5509052|PMID:15464860 20111027 RGD protein:altered expression:cerebrospinal fluid 2554 Eno2 enolase 2 gene DOID:12217 Lewy body dementia ISO RGD:733932 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 2554 Eno2 enolase 2 gene DOID:12783 migraine without aura ISO RGD:733932 D RGD:5508769|PMID:21293918 20111021 RGD protein:increased expression:serum 2554 Eno2 enolase 2 gene DOID:14115 toxic shock syndrome IEP D RGD:2293748|PMID:17083782 20080612 RGD proteiin:increased expression:serum 2554 Eno2 enolase 2 gene DOID:14330 Parkinson's disease ISO RGD:733932 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 2554 Eno2 enolase 2 gene DOID:1800 neuroendocrine carcinoma ISO RGD:733932 D RGD:2293735|PMID:15010880 20080611 RGD 2554 Eno2 enolase 2 gene DOID:3459 breast carcinoma ISO RGD:733932 D RGD:2293740|PMID:16608642 20080611 RGD 2554 Eno2 enolase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 2554 Eno2 enolase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733932 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2554 Eno2 enolase 2 gene DOID:630 genetic disease ISO RGD:733932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2554 Eno2 enolase 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2293743|PMID:18343116 20080611 RGD protein:increased expression:serum, cerebrospinal fluid 2554 Eno2 enolase 2 gene DOID:9000367 Multiple Trauma ISO RGD:733932 D RGD:2293751|PMID:16044081 20080612 RGD 2554 Eno2 enolase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 2554 Eno2 enolase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:733932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 2554 Eno2 enolase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:733932 D RGD:2293736|PMID:18459456 20080611 RGD 2554 Eno2 enolase 2 gene DOID:9002573 Nerve Tissue Neoplasms IEP D RGD:2293746|PMID:17537454 20080611 RGD 2554 Eno2 enolase 2 gene DOID:9004009 Reperfusion Injury IDA D RGD:2293745|PMID:17683050 20080611 RGD 2554 Eno2 enolase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733932 D RGD:2293737|PMID:18156975 20080611 RGD 2554 Eno2 enolase 2 gene DOID:9004462 Atrophy severity ISO RGD:733932 D RGD:5508787|PMID:20105309 20111021 RGD associated with Alzheimer Disease 2554 Eno2 enolase 2 gene DOID:9004643 Urologic Neoplasms ISO RGD:733932 D RGD:2293741|PMID:12656306 20080611 RGD 2554 Eno2 enolase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2293753|PMID:15780189 20080612 RGD protein:increased expression:brain 2554 Eno2 enolase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 2554 Eno2 enolase 2 gene DOID:9007787 Carcinoid Tumor ISO RGD:733932 D RGD:2293739|PMID:17345775 20080611 RGD 2554 Eno2 enolase 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733932 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2554 Eno2 enolase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:733932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2554 Eno2 enolase 2 gene DOID:936 brain disease disease_progression ISO RGD:733932 D RGD:5508782|PMID:20847541 20111021 RGD 2555 Eno3 enolase 3 gene DOID:0050941 spastic ataxia 2 ISO RGD:732414 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 2555 Eno3 enolase 3 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 2555 Eno3 enolase 3 gene DOID:1712 aortic valve stenosis IEP D RGD:2301765|PMID:8594891 20081031 RGD mRNA:decreased expression:cardiac muscle cell 2555 Eno3 enolase 3 gene DOID:409 liver disease ISO RGD:732414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2555 Eno3 enolase 3 gene DOID:630 genetic disease ISO RGD:732414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2555 Eno3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:7240710 20130221 OMIM 2555 Eno3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enolase 3 deficiency | ClinVar Annotator: match by term: Enolase-beta deficiency PMID:11506403|PMID:16199547|PMID:17576681|PMID:18070103|PMID:25267339|PMID:25741868|PMID:28492532|PMID:31741825|PMID:33004838|PMID:9536098 2556 Ephb1 Eph receptor B1 gene DOID:0080600 COVID-19 ISO RGD:1353347 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2556 Ephb1 Eph receptor B1 gene DOID:0080685 aortic dissection ISO RGD:1353347 D RGD:155260309|PMID:30787994 20220929 RGD protein:increased phosphorylation:aorta (human) 2556 Ephb1 Eph receptor B1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353347 D RGD:153305950|PMID:21603658 20220810 RGD DNA:SNPs,haplptype:multiple 2556 Ephb1 Eph receptor B1 gene DOID:10534 stomach cancer ISO RGD:1353347 D RGD:153323289|PMID:12136247 20220811 RGD mRNA:increased expression:stomach (human) 2556 Ephb1 Eph receptor B1 gene DOID:5844 myocardial infarction ameliorates IEP D RGD:329333030|PMID:28622474 20230426 RGD 2556 Ephb1 Eph receptor B1 gene DOID:630 genetic disease ISO RGD:1353347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2556 Ephb1 Eph receptor B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1551682 D RGD:127285675|PMID:28100771 20210627 RGD protein:increased phosphorylation:liver (mouse) 2556 Ephb1 Eph receptor B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1353347 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 2557 Ephx1 epoxide hydrolase 1 gene DOID:0014667 disease of metabolism ISO RGD:736560 D RGD:1601066|PMID:12878321 20070405 RGD familial hypercholanemia,OMIM:607748;DNA:point mutations:promoter, intron 2557 Ephx1 epoxide hydrolase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736560 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2557 Ephx1 epoxide hydrolase 1 gene DOID:0060058 lymphoma ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 2557 Ephx1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 2557 Ephx1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:1601063|PMID:11406608 20070405 RGD DNA:polymorphism 2557 Ephx1 epoxide hydrolase 1 gene DOID:0080001 bone disease ISO RGD:736560 D RGD:11252112|PMID:19657367 20160624 RGD associated with Multiple Myeloma;DNA:SNP 2557 Ephx1 epoxide hydrolase 1 gene DOID:10320 asbestosis susceptibility ISO RGD:736560 D RGD:4889408|PMID:17159790 20101201 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11283205|PMID:12173035 2557 Ephx1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:1601064|PMID:11283205 20070405 RGD DNA:polymorphism 2557 Ephx1 epoxide hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736560 D RGD:5688388|PMID:16630050 20120229 RGD protein:increased expression:hippocampus 2557 Ephx1 epoxide hydrolase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736560 D RGD:2315930|PMID:19252927 20120228 RGD DNA:SNPs 2557 Ephx1 epoxide hydrolase 1 gene DOID:1227 neutropenia ISO RGD:736560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 2557 Ephx1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia disease_progression ISO RGD:736560 D RGD:11252120|PMID:26999617 20160624 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736560 D RGD:11252118|PMID:21228718 20160624 RGD DNA:missense mutation:exon:p.H139R (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease ISO RGD:736560 D RGD:5490167|PMID:10720475 20120229 RGD DNA:missense mutation:exon:p.Y113H (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:736560 D RGD:5688390|PMID:11692079 20120229 RGD DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:1485 cystic fibrosis ISO RGD:736560 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucoviscidosis PMID:12704386|PMID:17532303|PMID:19017876|PMID:23426996|PMID:7516776|PMID:9288046 2557 Ephx1 epoxide hydrolase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736560 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2557 Ephx1 epoxide hydrolase 1 gene DOID:1579 respiratory system disease ISO RGD:736560 D RGD:4889126|PMID:14593914 20101124 RGD associated with Cystic Fibrosis 2557 Ephx1 epoxide hydrolase 1 gene DOID:1790 malignant mesothelioma ISO RGD:736560 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 2557 Ephx1 epoxide hydrolase 1 gene DOID:2355 anemia treatment ISO RGD:736560 D RGD:11097078|PMID:24533712 20160624 RGD associated with Ovarian Neoplasms 2557 Ephx1 epoxide hydrolase 1 gene DOID:2841 asthma susceptibility ISO RGD:736560 D RGD:4889407|PMID:17711870 20101201 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:305 carcinoma ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2557 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 2557 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:1601065|PMID:9288046 20070405 RGD DNA:polymorphism 2557 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:4889120|PMID:20932192 20101124 RGD DNA:SNP:exon:p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:4889122|PMID:18614560 20101124 RGD DNA:SNPs: :multiple (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:4889123|PMID:17564249 20101124 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736560 D RGD:4889121|PMID:18811882 20101124 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:736560 D RGD:5490249|PMID:17022435 20120302 RGD DNA:missense mutation:cds:p.H139R (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736560 D RGD:4889124|PMID:17273734 20101124 RGD 2557 Ephx1 epoxide hydrolase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma IEP D RGD:152998935|PMID:6133380 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) 2557 Ephx1 epoxide hydrolase 1 gene DOID:630 genetic disease ISO RGD:736560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2557 Ephx1 epoxide hydrolase 1 gene DOID:670 amphetamine abuse ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19598248 2557 Ephx1 epoxide hydrolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7892276 2557 Ephx1 epoxide hydrolase 1 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:736560 D RGD:5688732|PMID:15838728 20120302 RGD DNA:missense mutation:cds:p.Y113H (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2557 Ephx1 epoxide hydrolase 1 gene DOID:9000972 Fever ISO RGD:736560 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:31422080 2557 Ephx1 epoxide hydrolase 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:11252158|PMID:7260898 20160627 RGD 2557 Ephx1 epoxide hydrolase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17919073|PMID:21716162|PMID:24763052 2557 Ephx1 epoxide hydrolase 1 gene DOID:9003566 Mesothelioma ISO RGD:736560 D RGD:4889125|PMID:16697254 20101124 RGD 2557 Ephx1 epoxide hydrolase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26295053 2557 Ephx1 epoxide hydrolase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736560 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26840748 2557 Ephx1 epoxide hydrolase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802 2557 Ephx1 epoxide hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2557 Ephx1 epoxide hydrolase 1 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:736560 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25326635|PMID:25741868 2557 Ephx1 epoxide hydrolase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 2557 Ephx1 epoxide hydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736560 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 2557 Ephx1 epoxide hydrolase 1 gene DOID:9007118 Familial Hypercholanemia ISO RGD:736560 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12878321 2557 Ephx1 epoxide hydrolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2557 Ephx1 epoxide hydrolase 1 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2336087 2557 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:11252119|PMID:11849215 20160624 RGD DNA:missense mutations:exon:p.Y113H, p.H139R (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29605894 2557 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:11252114|PMID:22200898 20160624 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:11252115|PMID:20731606 20160624 RGD DNA:polymorphism 2557 Ephx1 epoxide hydrolase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736560 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2557 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 2557 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:11252116|PMID:19736056 20160624 RGD 2557 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:11252122|PMID:24521996 20160624 RGD DNA:SNP:exon:rs2234922 (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:736560 D RGD:11252121|PMID:16949155 20160624 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 2557 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:4140935|PMID:20525719 20101124 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:4889405|PMID:12579334 20101201 RGD 2557 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema no_association ISO RGD:736560 D RGD:4889406|PMID:10853854 20101201 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736560 D RGD:1601065|PMID:9288046 20101201 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736560 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 2557 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:11252110|PMID:21983886 20160624 RGD DNA:missense mutation, haplotype:exon:p.H139R (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:11252114|PMID:22200898 20160624 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:11252110|PMID:21983886 20160624 RGD DNA:missense mutation, haplotype:exon:p.Y113H (human) 2557 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:11252111|PMID:19593802 20160624 RGD 2557 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:11252113|PMID:22930568 20160624 RGD DNA:polymorphisms:exon 2558 Stx2 syntaxin 2 gene DOID:12336 male infertility ISO RGD:732157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18277055 2558 Stx2 syntaxin 2 gene DOID:630 genetic disease ISO RGD:732157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2559 Epo erythropoietin gene DOID:0050700 cardiomyopathy ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16449733|PMID:16731534|PMID:17924179|PMID:17928571 2559 Epo erythropoietin gene DOID:0050852 limb ischemia treatment ISO RGD:735849 D RGD:10400895|PMID:23294128 20150922 RGD 2559 Epo erythropoietin gene DOID:0050908 myelodysplastic syndrome ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12670338|PMID:16076383 2559 Epo erythropoietin gene DOID:0060903 thrombosis ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14979412|PMID:25013951 2559 Epo erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:7240710 20190315 OMIM 2559 Epo erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:8554872 20180424 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 5 PMID:27651169|PMID:29514032 2559 Epo erythropoietin gene DOID:10652 Alzheimer's disease treatment ISO RGD:735849 D RGD:10395389|PMID:22004348 20150904 RGD 2559 Epo erythropoietin gene DOID:10652 Alzheimer's disease treatment ISO RGD:735849 D RGD:10400882|PMID:23813967 20150921 RGD 2559 Epo erythropoietin gene DOID:1074 kidney failure ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22013135 2559 Epo erythropoietin gene DOID:10763 hypertension ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1516988|PMID:10694834 2559 Epo erythropoietin gene DOID:10808 gastric ulcer ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20723003 2559 Epo erythropoietin gene DOID:114 heart disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16707910 2559 Epo erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:7240710 20130221 OMIM 2559 Epo erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2 PMID:18458324 2559 Epo erythropoietin gene DOID:11832 visual epilepsy treatment IDA D RGD:10401076|PMID:23518641 20150923 RGD 2559 Epo erythropoietin gene DOID:1184 nephrotic syndrome treatment ISO RGD:735849 D RGD:11041725|PMID:23128049 20160328 RGD 2559 Epo erythropoietin gene DOID:12241 beta thalassemia ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16225658 2559 Epo erythropoietin gene DOID:12450 pancytopenia ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9051142 2559 Epo erythropoietin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12053072 2559 Epo erythropoietin gene DOID:1289 neurodegenerative disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15816862 2559 Epo erythropoietin gene DOID:1289 neurodegenerative disease susceptibility ISO RGD:735849 D RGD:10400893|PMID:16339796 20150922 RGD associated with Brain Injuries 2559 Epo erythropoietin gene DOID:13025 retinopathy of prematurity IEP D RGD:11041658|PMID:24630601 20160325 RGD protein:decreased expression:retina: 2559 Epo erythropoietin gene DOID:13268 porphyria ISO RGD:735849 D RGD:2313839|PMID:17435269 20091021 RGD associated with Diabetes Mellitus,nephrosclerosis 2559 Epo erythropoietin gene DOID:1389 polyneuropathy ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17010629 2559 Epo erythropoietin gene DOID:14330 Parkinson's disease treatment ISO RGD:735849 D RGD:10400901|PMID:19727138 20150922 RGD 2559 Epo erythropoietin gene DOID:1561 cognitive disorder ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20833152 2559 Epo erythropoietin gene DOID:1588 thrombocytopenia ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8260696 2559 Epo erythropoietin gene DOID:1612 breast cancer ISO RGD:735849 D RGD:11041669|PMID:12118093 20160328 RGD protein:increased expression:breast: 2559 Epo erythropoietin gene DOID:1657 ventricular septal defect ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 2559 Epo erythropoietin gene DOID:1686 glaucoma IEP D RGD:11041649|PMID:17554621 20160325 RGD protein:increased expression:retina: 2559 Epo erythropoietin gene DOID:1686 glaucoma ISO RGD:735849 D RGD:10401071|PMID:19741249 20150923 RGD 2559 Epo erythropoietin gene DOID:1686 glaucoma ISO RGD:735849 D RGD:11041649|PMID:17554621 20160325 RGD 2559 Epo erythropoietin gene DOID:178 vascular disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25013951 2559 Epo erythropoietin gene DOID:182 calcinosis ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12148126 2559 Epo erythropoietin gene DOID:1824 status epilepticus ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16679645|PMID:17166730 2559 Epo erythropoietin gene DOID:1909 melanoma ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15743794 2559 Epo erythropoietin gene DOID:224 transient cerebral ischemia treatment IEP D RGD:10401060|PMID:22282883 20150923 RGD 2559 Epo erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:735849 D RGD:11041699|PMID:24702327 20160328 RGD 2559 Epo erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1516988|PMID:1574960|PMID:1893952|PMID:1982298|PMID:2186273|PMID:2206997|PMID:7529132|PMID:7602351|PMID:7631396|PMID:7732690|PMID:8202718|PMID:8250662|PMID:8260696|PMID:8418619|PMID:8504984|PMID:9118049|PMID:9616293|PMID:9617462|PMID:9743294|PMID:10506726|PMID:10713657|PMID:11245434|PMID:11273875|PMID:11454181|PMID:11569724|PMID:11828949|PMID:11981781|PMID:12670280|PMID:12713065|PMID:12820454|PMID:12897097|PMID:12899718|PMID:14568602|PMID:14706663|PMID:15160343|PMID:15232364|PMID:15660393|PMID:16434484|PMID:16511603|PMID:16637862|PMID:16707910|PMID:16798232|PMID:16949463|PMID:16970215|PMID:16970600|PMID:17058596|PMID:17168855|PMID:17180133|PMID:17288690|PMID:17397412|PMID:17409018|PMID:17559739|PMID:18265628|PMID:18403296|PMID:18611800|PMID:18695134|PMID:19015056|PMID:19212639|PMID:19787831|PMID:20189893|PMID:20303990|PMID:21860424|PMID:22174104|PMID:23077460 2559 Epo erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:2313843|PMID:16681558 20091021 RGD associated with Diabetic Nephropathies;protein:decreased expression:serum 2559 Epo erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:2313896|PMID:15855576 20091026 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:serum 2559 Epo erythropoietin gene DOID:3021 acute kidney failure ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21847101|PMID:24561306 2559 Epo erythropoietin gene DOID:3021 acute kidney failure treatment ISO RGD:735849 D RGD:10400913|PMID:22209169 20150922 RGD 2559 Epo erythropoietin gene DOID:3021 acute kidney failure treatment ISO RGD:735849 D RGD:11041660|PMID:22235348 20160325 RGD 2559 Epo erythropoietin gene DOID:3070 high grade glioma ISO RGD:735849 D RGD:10400910|PMID:21749867 20150922 RGD 2559 Epo erythropoietin gene DOID:331 central nervous system disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15816862 2559 Epo erythropoietin gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735849 D RGD:10395391|PMID:17368721 20150904 RGD protein:decreased expression:cerebrospinal fluid 2559 Epo erythropoietin gene DOID:3393 coronary artery disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25245553 2559 Epo erythropoietin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735849 D RGD:10400898|PMID:20833153 20150922 RGD 2559 Epo erythropoietin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735849 D RGD:10401066|PMID:20547143 20150923 RGD 2559 Epo erythropoietin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735849 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27880037 2559 Epo erythropoietin gene DOID:3891 placental insufficiency treatment ISO RGD:735849 D RGD:10400897|PMID:20809703 20150922 RGD 2559 Epo erythropoietin gene DOID:4449 macular retinal edema severity ISO RGD:735849 D RGD:10400883|PMID:20664492 20150921 RGD 2559 Epo erythropoietin gene DOID:4676 uremia ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12675867 2559 Epo erythropoietin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735849 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2559 Epo erythropoietin gene DOID:4947 cholangiocarcinoma IEP D RGD:10400912|PMID:23052842 20150922 RGD mRNA, protein:increased expression:liver 2559 Epo erythropoietin gene DOID:5327 retinal detachment IEP D RGD:11041648|PMID:17882708 20160325 RGD mRNA,protein:increased expression:retina: 2559 Epo erythropoietin gene DOID:5327 retinal detachment treatment IDA D RGD:10401069|PMID:22020175 20150923 RGD 2559 Epo erythropoietin gene DOID:557 kidney disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20606417 2559 Epo erythropoietin gene DOID:583 hemolytic anemia ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10733367|PMID:16629641|PMID:20446436 2559 Epo erythropoietin gene DOID:5844 myocardial infarction ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 2559 Epo erythropoietin gene DOID:5844 myocardial infarction treatment ISO RGD:735849 D RGD:10400907|PMID:21415704 20150922 RGD 2559 Epo erythropoietin gene DOID:6000 congestive heart failure treatment ISO RGD:735849 D RGD:10401073|PMID:20139114 20150923 RGD associated with Myocardial Infarction 2559 Epo erythropoietin gene DOID:627 severe combined immunodeficiency ISO RGD:10531 D RGD:2313831|PMID:19826948 20091019 RGD Protein: decreased expression:skin 2559 Epo erythropoietin gene DOID:630 genetic disease ISO RGD:735849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2559 Epo erythropoietin gene DOID:6432 pulmonary hypertension treatment ISO RGD:735849 D RGD:10400914|PMID:22559233 20150922 RGD 2559 Epo erythropoietin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735849 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 2559 Epo erythropoietin gene DOID:783 end stage renal disease ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16707910 2559 Epo erythropoietin gene DOID:8466 retinal degeneration treatment ISO RGD:10531 D RGD:10400896|PMID:21421996 20150922 RGD 2559 Epo erythropoietin gene DOID:8725 vascular dementia IEP D RGD:10400891|PMID:17037738 20150922 RGD 2559 Epo erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:2313837|PMID:18670462 20091020 RGD protein:increased expression:serum,vitreous body 2559 Epo erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:2313838|PMID:18458324 20091020 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) 2559 Epo erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:2313890|PMID:18235022 20091026 RGD associated with Diabetes Mellitus, Experimental 2559 Epo erythropoietin gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735849 D RGD:10400906|PMID:24508793 20150922 RGD associated with Diabetes Mellitus, Experimental 2559 Epo erythropoietin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735849 D RGD:10401074|PMID:22196867 20150923 RGD 2559 Epo erythropoietin gene DOID:9000046 Poisoning ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15727166 2559 Epo erythropoietin gene DOID:9000184 Ventricular Fibrillation ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18156309 2559 Epo erythropoietin gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:735849 D RGD:10400909|PMID:23907045 20150922 RGD 2559 Epo erythropoietin gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735849 D RGD:10401063|PMID:21326299 20150923 RGD associated with Diabetes Mellitus, Experimental 2559 Epo erythropoietin gene DOID:9000892 Fetal Distress IEP D RGD:10401064|PMID:22099204 20150923 RGD mRNA, protein:increased expression:brain, serum 2559 Epo erythropoietin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 2559 Epo erythropoietin gene DOID:9000998 Brain Injuries IEP D RGD:2293059|PMID:18093155 20160328 RGD mRNA:increased expression:brain: 2559 Epo erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20833152 2559 Epo erythropoietin gene DOID:9000998 Brain Injuries treatment ISO RGD:735849 D RGD:10401061|PMID:23063952 20150923 RGD 2559 Epo erythropoietin gene DOID:9001542 Albuminuria ISO RGD:735849 D RGD:2313841|PMID:16921186 20091021 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum 2559 Epo erythropoietin gene DOID:9001553 Spinal Cord Compression IEP D RGD:11041719|PMID:15792521 20160328 RGD protein:increased expression:neuron, endothelium, glia: 2559 Epo erythropoietin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:735849 D RGD:10401059|PMID:20539178 20150923 RGD 2559 Epo erythropoietin gene DOID:9001981 Weight Loss ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8260696 2559 Epo erythropoietin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735849 D RGD:15090809|PMID:25769561 20191219 RGD 2559 Epo erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:2313832|PMID:19619913 20091019 RGD 2559 Epo erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:2313833|PMID:19356735 20091019 RGD associated with Diabetes Mellitus, Experimental; 2559 Epo erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:2313838|PMID:18458324 20091020 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) 2559 Epo erythropoietin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:735849 D RGD:10400892|PMID:25422652 20150922 RGD 2559 Epo erythropoietin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18382691 2559 Epo erythropoietin gene DOID:9002955 Nerve Degeneration ISO RGD:735849 D RGD:11554173 20200317 CTD CTD Direct Evidence: therapeutic PMID:17010629|PMID:17166730|PMID:19497871|PMID:30837834 2559 Epo erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10400911|PMID:24034924 20150922 RGD 2559 Epo erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:735849 D RGD:10401072|PMID:22156696 20150923 RGD 2559 Epo erythropoietin gene DOID:9003871 Venous Thrombosis ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12670338|PMID:17547733 2559 Epo erythropoietin gene DOID:9004086 AIDS Dementia Complex treatment ISO RGD:735849 D RGD:10395393|PMID:20818790 20150904 RGD 2559 Epo erythropoietin gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:735849 D RGD:10401065|PMID:22678524 20150923 RGD 2559 Epo erythropoietin gene DOID:9004547 Thyroid Neoplasms ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 2559 Epo erythropoietin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 2559 Epo erythropoietin gene DOID:9004702 Pregnancy Complications ISO RGD:735849 D RGD:2313897|PMID:15502930 20091026 RGD associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid 2559 Epo erythropoietin gene DOID:9004713 Acute-Phase Reaction IEP D RGD:10395370|PMID:19840250 20150903 RGD mRNA, protein:increased expression:multiple 2559 Epo erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:10400899|PMID:21116766 20150922 RGD 2559 Epo erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:10401067|PMID:24344874 20150923 RGD associated with Brain Injuries 2559 Epo erythropoietin gene DOID:9005141 Ventricular Tachycardia ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18156309 2559 Epo erythropoietin gene DOID:9005233 Experimental Mammary Neoplasms treatment IMP D RGD:11041669|PMID:12118093 20160328 RGD 2559 Epo erythropoietin gene DOID:9005372 Inflammation ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21497595 2559 Epo erythropoietin gene DOID:9005474 Experimental Sarcoma ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9743294 2559 Epo erythropoietin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11041670|PMID:24673486 20160328 RGD mRNA:increased expression:Schwann cell: 2559 Epo erythropoietin gene DOID:9005749 Necrosis treatment ISO RGD:735849 D RGD:8655615|PMID:22924373 20150923 RGD associated with Ischemia 2559 Epo erythropoietin gene DOID:9005930 Endotoxemia treatment ISO RGD:735849 D RGD:10400903|PMID:23214195 20150922 RGD 2559 Epo erythropoietin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735849 D RGD:10401077|PMID:19961832 20150923 RGD 2559 Epo erythropoietin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735849 D RGD:11041698|PMID:25581532 20160328 RGD 2559 Epo erythropoietin gene DOID:9006617 Fatigue ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18695134 2559 Epo erythropoietin gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:10400894|PMID:20361946 20150922 RGD 2559 Epo erythropoietin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735849 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30944280 2559 Epo erythropoietin gene DOID:9006839 Anastomotic Leak treatment ISO RGD:735849 D RGD:10400902|PMID:22149012 20150922 RGD 2559 Epo erythropoietin gene DOID:9006924 Cardiogenic Shock ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 2559 Epo erythropoietin gene DOID:9007199 Paraneoplastic Syndromes ISO RGD:735849 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:10713657 2559 Epo erythropoietin gene DOID:9007622 Acute Subdural Hematoma treatment ISO RGD:735849 D RGD:10401075|PMID:23415790 20150923 RGD 2559 Epo erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:7240710 20190315 OMIM 2559 Epo erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:8554872 20180424 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like PMID:28283061 2559 Epo erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:2313840|PMID:16936148 20091021 RGD mRNA:increased expression:retina 2559 Epo erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:2313842|PMID:16911620 20091021 RGD protein:decreased expression:plasma 2559 Epo erythropoietin gene DOID:9477 pulmonary embolism ISO RGD:735849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12670338 2559 Epo erythropoietin gene DOID:9743 diabetic neuropathy ISO RGD:735849 D RGD:2313898|PMID:14718663 20091026 RGD associated with Diabetes Mellitus, Experimental; 2559 Epo erythropoietin gene DOID:9993 hypoglycemia ISO RGD:735849 D RGD:2313835|PMID:19211168 20091020 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma 2560 Epor erythropoietin receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:11041601|PMID:20700488 20160324 RGD DNA:nonsense mutation:cds:1251G>T(human) 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:11041605|PMID:8506290 20160324 RGD DNA:nonsense mutation:cds:6002G>A(human) 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:11041631|PMID:11929803 20160325 RGD DNA:nonsense mutation:exon:5881G>T(human) 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:11041638|PMID:9192789 20160325 RGD DNA:deletion mutation:exon: 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:7240710 20130221 OMIM 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 2560 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 no_association ISO RGD:736105 D RGD:11041608|PMID:9394420 20160324 RGD 2560 Epor erythropoietin receptor gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:736105 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:17488692|PMID:27993330|PMID:8506290 2560 Epor erythropoietin receptor gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:736105 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868|PMID:28492532|PMID:8174675|PMID:9394420 2560 Epor erythropoietin receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2560 Epor erythropoietin receptor gene DOID:0111254 glutaric acidemia I ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2560 Epor erythropoietin receptor gene DOID:10652 Alzheimer's disease ISO RGD:736105 D RGD:10395387|PMID:17483696 20150904 RGD protein:increased expression:brain, astrocyte 2560 Epor erythropoietin receptor gene DOID:10763 hypertension susceptibility ISO RGD:736105 D RGD:11041646|PMID:19458615 20160325 RGD induced by erythropoietin; 2560 Epor erythropoietin receptor gene DOID:10780 primary polycythemia ISO RGD:736105 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 2560 Epor erythropoietin receptor gene DOID:13025 retinopathy of prematurity IEP D RGD:11041658|PMID:24630601 20160325 RGD protein:increased expression,increased activity:retina: 2560 Epor erythropoietin receptor gene DOID:13413 hepatic encephalopathy IEP D RGD:10395388|PMID:24382264 20150904 RGD associated with Hypertension, Portal 2560 Epor erythropoietin receptor gene DOID:1612 breast cancer ISO RGD:736105 D RGD:11041669|PMID:12118093 20160328 RGD protein:increased expression:breast: 2560 Epor erythropoietin receptor gene DOID:1686 glaucoma IEP D RGD:11041649|PMID:17554621 20160325 RGD protein:increased expression:retina: 2560 Epor erythropoietin receptor gene DOID:1909 melanoma ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21860424 2560 Epor erythropoietin receptor gene DOID:2228 thrombocytosis ISO RGD:10532 D RGD:11041647|PMID:8400289 20160325 RGD 2560 Epor erythropoietin receptor gene DOID:2316 brain ischemia IEP D RGD:11041652|PMID:14732457 20160325 RGD protein:increased expression:brain: 2560 Epor erythropoietin receptor gene DOID:2355 anemia ISO RGD:10532 D RGD:11041637|PMID:9808048 20160325 RGD 2560 Epor erythropoietin receptor gene DOID:2355 anemia susceptibility ISO RGD:736105 D RGD:11041607|PMID:23080113 20160324 RGD associated with Lupus Erythematosus, Systemic; 2560 Epor erythropoietin receptor gene DOID:3070 high grade glioma IMP D RGD:10400910|PMID:21749867 20150922 RGD 2560 Epor erythropoietin receptor gene DOID:3413 alpha-mannosidosis ISO RGD:736105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2560 Epor erythropoietin receptor gene DOID:4947 cholangiocarcinoma IEP D RGD:10400912|PMID:23052842 20150922 RGD mRNA, protein:increased expression:liver 2560 Epor erythropoietin receptor gene DOID:5327 retinal detachment IEP D RGD:11041648|PMID:17882708 20160325 RGD mRNA,protein:increased expression:retina: 2560 Epor erythropoietin receptor gene DOID:5844 myocardial infarction IEP D RGD:10400907|PMID:21415704 20150922 RGD 2560 Epor erythropoietin receptor gene DOID:630 genetic disease ISO RGD:736105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2560 Epor erythropoietin receptor gene DOID:783 end stage renal disease IEP D RGD:11532749|PMID:27468524 20160906 RGD protein:decreased expression:heart 2560 Epor erythropoietin receptor gene DOID:8432 polycythemia IEP D RGD:149735329|PMID:27587253 20210715 RGD mRNA,protein:increased expression:CD71 positive bone marrow cell 2560 Epor erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:10532 D RGD:11041647|PMID:8400289 20160325 RGD 2560 Epor erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16484586 2560 Epor erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:736105 D RGD:734937|PMID:11158582 20160325 RGD 2560 Epor erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 2560 Epor erythropoietin receptor gene DOID:8997 polycythemia vera ISO RGD:736105 D RGD:11041603|PMID:9207443 20160324 RGD mRNA:decreased expression:blood cell: 2560 Epor erythropoietin receptor gene DOID:9000892 Fetal Distress IEP D RGD:10401064|PMID:22099204 20150923 RGD mRNA, protein:increased expression:brain 2560 Epor erythropoietin receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 2560 Epor erythropoietin receptor gene DOID:9000998 Brain Injuries IEP D RGD:2293059|PMID:18093155 20160328 RGD mRNA:increased expression:brain: 2560 Epor erythropoietin receptor gene DOID:9001553 Spinal Cord Compression IEP D RGD:11041719|PMID:15792521 20160328 RGD protein:increased expression:neuron, endothelium, glia: 2560 Epor erythropoietin receptor gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:15090809|PMID:25769561 20191219 RGD protein:increased phosphorylation:liver: 2560 Epor erythropoietin receptor gene DOID:9002955 Nerve Degeneration ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19497871 2560 Epor erythropoietin receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 2560 Epor erythropoietin receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 2560 Epor erythropoietin receptor gene DOID:9004756 Brain Hypoxia IEP D RGD:10400899|PMID:21116766 20150929 RGD 2560 Epor erythropoietin receptor gene DOID:9004756 Brain Hypoxia treatment IEP D RGD:10401067|PMID:24344874 20150923 RGD associated with Brain Injuries 2560 Epor erythropoietin receptor gene DOID:9005233 Experimental Mammary Neoplasms treatment IMP D RGD:11041669|PMID:12118093 20160328 RGD 2560 Epor erythropoietin receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11041670|PMID:24673486 20160328 RGD mRNA:increased expression:Schwann cell: 2560 Epor erythropoietin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:736105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706814 2560 Epor erythropoietin receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:736105 D RGD:11041604|PMID:23151030 20160324 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:619563 D RGD:126781761|PMID:11673832 20210420 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050902 medulloblastoma ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20168248 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:619563 D RGD:2289931|PMID:17119686 20080219 RGD protein:increased expression:breast 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:619563 D RGD:2289981|PMID:15788662 20080221 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:619563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:619563 D RGD:2289934|PMID:16771730 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:619563 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:734940|PMID:12526770 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISS RGD:10533 D RGD:13592920 20180518 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:7240710 20220209 OMIM 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:15457249|PMID:18339846|PMID:25157968 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10591 pre-eclampsia ISO RGD:619563 D RGD:1580990|PMID:9158311 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291863 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:2289934|PMID:16771730 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:619563 D RGD:2298502|PMID:16685269 20080703 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1107 esophageal carcinoma ISO RGD:619563 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:16397024|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:734939|PMID:12072561 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISS RGD:10533 D RGD:13592920 20180518 MouseDO 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:13133 HELLP syndrome ISO RGD:619563 D RGD:1580990|PMID:9158311 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1324 lung cancer ISO RGD:619563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:1681519|PMID:24033266|PMID:24728327|PMID:28492532|PMID:2999974|PMID:3003577|PMID:8095488 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:619563 D RGD:2289955|PMID:15857400 20080220 RGD protein:decreased expression:forebrain 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:15457249|PMID:18339846|PMID:22908275|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:14566 disease of cellular proliferation NAS D RGD:728778|PMID:12610629 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1612 breast cancer ISS RGD:10533 D RGD:13592920 20180518 MouseDO OMIM:114480 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:182 calcinosis ISO RGD:619563 D RGD:2289923|PMID:18256879 20080219 RGD associated with Breast Neoplasms;protein:increased expression:breast 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1909 melanoma ISO RGD:619563 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2154 nephroblastoma ISO RGD:619563 D RGD:2289932|PMID:16932912 20080219 RGD protein:increased expression:kidney 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2394 ovarian cancer ISO RGD:619563 D RGD:7240710 20210818 OMIM 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2513 basal cell carcinoma ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:619563 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23220880|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2615 papilloma ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:619563 D RGD:2298506|PMID:14614020 20080703 RGD mRNA:increased expression:urinary bladder 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:16397024|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma severity ISO RGD:619563 D RGD:2289927|PMID:17987577 20080219 RGD protein:increased expression:urinary bladder 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:126790474|PMID:22549618 20210422 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21673877|PMID:22042947 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:619563 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:7240710 20230505 OMIM 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:15457249|PMID:24728327|PMID:25741868|PMID:26094658|PMID:28492532|PMID:29868112 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3443 mammary Paget's disease ISO RGD:619563 D RGD:2289933|PMID:16932067 20080219 RGD DNA:amplification 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3457 invasive lobular carcinoma severity ISO RGD:619563 D RGD:2289935|PMID:16761510 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:363 uterine cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:16397024|PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3713 ovary adenocarcinoma ISO RGD:619563 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Ovarian adenocarcinoma PMID:15457249|PMID:18339846 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15457249|PMID:16397024|PMID:16988931|PMID:18339846|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:619563 D RGD:5133243|PMID:21277552 20110608 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15457249|PMID:15753357|PMID:16638863|PMID:16863509|PMID:18334834|PMID:22325357|PMID:22761469|PMID:24033266|PMID:25157968 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15457249|PMID:22908275|PMID:24033266|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:619563 D RGD:126790475|PMID:26824984 20210422 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:619563 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10897039 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:2289930|PMID:17296437 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:629563 D RGD:2289987|PMID:15360049 20080221 RGD mRNA:decreased expression:kidney 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4465 papillary renal cell carcinoma ISO RGD:619563 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4948 gallbladder carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:619563 D RGD:126781768|PMID:21709195 20210420 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619563 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:22908275|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:126790467|PMID:20604875 20210422 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:571 median neuropathy IEP D RGD:10449020|PMID:19296522 20151211 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:619563 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:22908275|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:6000 congestive heart failure IEP D RGD:1580989|PMID:10421602 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:8923 skin melanoma ISO RGD:619563 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532492 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:2289925|PMID:18237248 20080219 RGD associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:2289926|PMID:18097576 20080219 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619563 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15640503|PMID:21532492|PMID:22042947 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:619563 D RGD:2298492|PMID:12926088 20080701 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000918 Disease Progression ISO RGD:619563 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:10897039|PMID:21638049|PMID:21750559 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:734938|PMID:11238891 19990101 RGD rat gene in a mouse model 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14612517 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:619563 D RGD:2289934|PMID:16771730 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11222871|PMID:16984552|PMID:17363613 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002498 Wallerian Degeneration IEP D RGD:68774|PMID:9030624 20080221 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10897039|PMID:19896266 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:2289928|PMID:17987122 20080219 RGD DNA, protein:amplification, increased expression:ovary 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:2298499|PMID:18575766 20080703 RGD mRNA, protein:increased expression:ovary 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15457249|PMID:18339846 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002801 Recurrence ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:21638049|PMID:26124351 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11222871 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:16397024|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:2289947|PMID:17465227 20080220 RGD protein:increased expression:uterine cervix 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:2298504|PMID:16157365 20080703 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:7240710 20211103 OMIM 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive PMID:33497358 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:619563 D RGD:2289950|PMID:16962163 20080220 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:619563 D RGD:2298503|PMID:16360440 20080703 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12483526 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:619563 D RGD:7240710 20130221 OMIM 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:2289920|PMID:1913683 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:6482679|PMID:12150826 20181120 RGD Androgen-dependent 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8603490|PMID:25221644 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:2289979|PMID:17203220 20080221 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22302033 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21673877 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:10449013|PMID:22285193 20151211 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:619563 D RGD:1580988|PMID:15685397 19990101 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms IEP D RGD:2289941|PMID:17704947 20080220 RGD protein:increased expression:oral epithelium 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007568 Circulating Neoplastic Cells ISO RGD:619563 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29044505 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007702 Carcinogenesis ISO RGD:619563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:619563 D RGD:4143515|PMID:19078924 20100930 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:619563 D RGD:2298490|PMID:18202752 20080701 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:619563 D RGD:2298491|PMID:17945336 20080701 RGD DNA:amplification 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:619563 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:619563 D RGD:38599160|PMID:25051417 20200911 RGD associated with gastritis; 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16397024|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10897039|PMID:11222871|PMID:11248153|PMID:11583189|PMID:11970740|PMID:12006526|PMID:12655533|PMID:12839951|PMID:15581045|PMID:15970926|PMID:15994142|PMID:16091755|PMID:16137437|PMID:16234514|PMID:16446318|PMID:16495393|PMID:16596621|PMID:16682728|PMID:16865596|PMID:16950593|PMID:16978400|PMID:17614302|PMID:18086299|PMID:18768436|PMID:18819904|PMID:18840765|PMID:19075277|PMID:19436038|PMID:19617202|PMID:19801490|PMID:19896266|PMID:20197467|PMID:20332317|PMID:20941507|PMID:21501481|PMID:21638049|PMID:22302033|PMID:25221644|PMID:25358515|PMID:26124351|PMID:35234341 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:2289922|PMID:18264744 20080219 RGD DNA:amplification 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:2289924|PMID:18245541 20080219 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:2289931|PMID:17119686 20080219 RGD protein:increased expression:breast 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:2292909|PMID:18427947 20080506 RGD protein:increased expression:breast 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:15753357|PMID:16397024|PMID:16863509|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:619563 D RGD:2289921|PMID:18269779 20080219 RGD mRNA:increased expression:blood 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:619563 D RGD:10401078|PMID:16609042 20150923 RGD 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:28492532|PMID:9536098 2561 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer ISO RGD:619563 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2581 Esr1 estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736559 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 2581 Esr1 estrogen receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736559 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 2581 Esr1 estrogen receptor 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:736559 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 2581 Esr1 estrogen receptor 1 gene DOID:0080001 bone disease ISO RGD:736559 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28505433 2581 Esr1 estrogen receptor 1 gene DOID:0080855 Parkinsonism IDA D RGD:8553241|PMID:21420980 20140508 RGD 2581 Esr1 estrogen receptor 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:736559 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:25741868|PMID:27782104 2581 Esr1 estrogen receptor 1 gene DOID:0110264 cataract 33 ISO RGD:10551 D RGD:734947|PMID:12082175 20140501 RGD 2581 Esr1 estrogen receptor 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:27782104|PMID:28492532 2581 Esr1 estrogen receptor 1 gene DOID:10247 pleurisy IMP D RGD:4892303|PMID:17035596 20110218 RGD 2581 Esr1 estrogen receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736559 D RGD:2290023|PMID:17908481 20080222 RGD mRNA:increased expression:prostate gland 2581 Esr1 estrogen receptor 1 gene DOID:10283 prostate cancer severity ISO RGD:736559 D RGD:2290022|PMID:17922863 20080222 RGD DNA:hypermethylation:promoter 2581 Esr1 estrogen receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:736559 D RGD:2290020|PMID:18006911 20080222 RGD DNA:repeat 2581 Esr1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 2581 Esr1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:1358612|PMID:10558867 19990101 RGD 2581 Esr1 estrogen receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:736559 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16712894|PMID:35764155 2581 Esr1 estrogen receptor 1 gene DOID:11132 prostatic hypertrophy treatment IMP D RGD:10045676|PMID:24872436 20150616 RGD 2581 Esr1 estrogen receptor 1 gene DOID:11383 cryptorchidism IEP D RGD:8553220|PMID:20951417 20140507 RGD mRNA:decreased expression:testis 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:10551 D RGD:10045841|PMID:21421090 20150617 RGD 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:10045665|PMID:23137636 20150615 RGD DNA:SNP:intron:397T>C (human) 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:10045825|PMID:16530497 20150617 RGD DNA:SNP, haplotype:intron:g.938C>T (human) 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:10045826|PMID:20116372 20150617 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:10045828|PMID:17896124 20150617 RGD DNA:repeat:intron:IVS5+225(CA)18-25 (human) 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:10045834|PMID:10773580 20150617 RGD 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:10045839|PMID:17953702 20150617 RGD DNA:SNP:exon:2014G>A (human) 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis no_association ISO RGD:736559 D RGD:10045839|PMID:17953702 20150617 RGD DNA:repeat:5' utr:g.-1174(TA)10-27 (human) 2581 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis treatment IEP D RGD:8694129|PMID:16955786 20150617 RGD 2581 Esr1 estrogen receptor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736559 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2581 Esr1 estrogen receptor 1 gene DOID:12306 vitiligo no_association ISO RGD:736559 D RGD:8552976|PMID:15381239 20140501 RGD DNA:SNP:exon 2581 Esr1 estrogen receptor 1 gene DOID:12306 vitiligo susceptibility ISO RGD:736559 D RGD:8552976|PMID:15381239 20140501 RGD DNA:SNP:intron 2581 Esr1 estrogen receptor 1 gene DOID:12336 male infertility ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20833731|PMID:23213263 2581 Esr1 estrogen receptor 1 gene DOID:1240 leukemia ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18808365 2581 Esr1 estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:736559 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:18701604|PMID:31468104 2581 Esr1 estrogen receptor 1 gene DOID:14228 oligospermia ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20833731 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer ISO RGD:736559 D RGD:7240710 20230517 OMIM 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer ISO RGD:736559 D RGD:8553052|PMID:17553133 20140506 RGD DNA:SNP: :908A>G (p.K303R) (human) 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736559 D RGD:8552981|PMID:19320640 20140501 RGD DNA:amplification 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:8552980|PMID:20846920 20140501 RGD DNA:SNPs: :rs2234693, rs9340799 (human) 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:8553053|PMID:15034868 20140506 RGD DNA:SNP: :908A>G (p.K303R) (human) 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:8552978|PMID:15604249 20140501 RGD DNA:SNPs, haplotypes:promoter, exon 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:8552982|PMID:19636371 20140501 RGD DNA:SNP:exon:2014G>A (human) 2581 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer treatment ISO RGD:736559 D RGD:8552979|PMID:19011961 20140501 RGD 2581 Esr1 estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:736559 D RGD:8553064|PMID:19153340 20140506 RGD 2581 Esr1 estrogen receptor 1 gene DOID:1936 atherosclerosis ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11894143 2581 Esr1 estrogen receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10551 D RGD:8553067|PMID:11160157 20140506 RGD 2581 Esr1 estrogen receptor 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:10045843|PMID:24548484 20150617 RGD 2581 Esr1 estrogen receptor 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:10045845|PMID:25098259 20150617 RGD 2581 Esr1 estrogen receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:736559 D RGD:4892301|PMID:17903303 20110218 RGD 2581 Esr1 estrogen receptor 1 gene DOID:2394 ovarian cancer IEP D RGD:2290042|PMID:16891317 20080225 RGD associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast 2581 Esr1 estrogen receptor 1 gene DOID:2696 Leydig cell tumor ISO RGD:736559 D RGD:2290041|PMID:17656605 20080225 RGD protein:increased expression:testis 2581 Esr1 estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:736559 D RGD:1580337|PMID:16500359 19990101 RGD 2581 Esr1 estrogen receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 2581 Esr1 estrogen receptor 1 gene DOID:299 adenocarcinoma ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:20458558 2581 Esr1 estrogen receptor 1 gene DOID:305 carcinoma ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897 2581 Esr1 estrogen receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 2581 Esr1 estrogen receptor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736559 D RGD:4892300|PMID:18285421 20110218 RGD 2581 Esr1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9396482|PMID:20559769 2581 Esr1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:1580335|PMID:16159931 19990101 RGD 2581 Esr1 estrogen receptor 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736559 D RGD:8552986|PMID:15355923 20140501 RGD protein:increased serine phosphorylation 2581 Esr1 estrogen receptor 1 gene DOID:3459 breast carcinoma severity ISO RGD:736559 D RGD:2290017|PMID:18234277 20080222 RGD mRNA, protein:increased expression:breast 2581 Esr1 estrogen receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736559 D RGD:4892255|PMID:19506903 20110216 RGD DNA:hypermethylation: :lung 2581 Esr1 estrogen receptor 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736559 D RGD:8553058|PMID:19032828 20140506 RGD DNA:SNP:intron: 2581 Esr1 estrogen receptor 1 gene DOID:4448 macular degeneration ISO RGD:736559 D RGD:10045664|PMID:17325140 20150615 RGD DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) 2581 Esr1 estrogen receptor 1 gene DOID:5223 infertility IMP D RGD:8552987|PMID:24506075 20140501 RGD 2581 Esr1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14600184 2581 Esr1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:1331525|PMID:15118671 19990101 GAD 2581 Esr1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:7240710 20230517 OMIM 2581 Esr1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:11894143|PMID:11919305|PMID:14600184 2581 Esr1 estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2581 Esr1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15133719 2581 Esr1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism 2581 Esr1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:7240710 20230517 OMIM 2581 Esr1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to PMID:15133719|PMID:25741868 2581 Esr1 estrogen receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:736559 D RGD:4892253|PMID:20081107 20110216 RGD 2581 Esr1 estrogen receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736559 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 2581 Esr1 estrogen receptor 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736559 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 2581 Esr1 estrogen receptor 1 gene DOID:769 neuroblastoma ISO RGD:736559 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27366082 2581 Esr1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer ISO RGD:736559 D RGD:2290043|PMID:17932744 20080225 RGD DNA:hypermethylation:promoter 2581 Esr1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer no_association ISO RGD:736559 D RGD:8552977|PMID:17904846 20140501 RGD DNA:repeat:promoter 2581 Esr1 estrogen receptor 1 gene DOID:8283 peritonitis treatment IDA D RGD:8553243|PMID:23063870 20140508 RGD 2581 Esr1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:10045662|PMID:20417295 20150615 RGD DNA:SNP:intron: (rs2234693) (human) 2581 Esr1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:10045830|PMID:19884274 20150617 RGD DNA:SNPs:introns: (rs2234693, rs9340799) (human) 2581 Esr1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ IDA D RGD:8553211|PMID:22025007 20140507 RGD 2581 Esr1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 2581 Esr1 estrogen receptor 1 gene DOID:8646 substance-induced psychosis ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19386276 2581 Esr1 estrogen receptor 1 gene DOID:8719 in situ carcinoma ISO RGD:736559 D RGD:2290024|PMID:17924141 20080222 RGD protein:increased expression:breast 2581 Esr1 estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10045844|PMID:25105782 20150617 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736559 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2581 Esr1 estrogen receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736559 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897|PMID:34606849 2581 Esr1 estrogen receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:8553242|PMID:23465388 20140508 RGD protein:increased expression:dentate gyrus 2581 Esr1 estrogen receptor 1 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:736559 D RGD:2293866|PMID:18076706 20140506 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736559 D RGD:4892312|PMID:16522460 20110218 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9000918 Disease Progression ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20104649 2581 Esr1 estrogen receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736559 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:20104649|PMID:35044086 2581 Esr1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736559 D RGD:10045837|PMID:15324358 20150617 RGD DNA:polymorphism 2581 Esr1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:736559 D RGD:10045837|PMID:15324358 20150617 RGD DNA:polymorphism 2581 Esr1 estrogen receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736559 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35044086 2581 Esr1 estrogen receptor 1 gene DOID:9001708 Hemorrhagic Shock severity IMP D RGD:4892252|PMID:20195535 20110216 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2314020|PMID:16464734 20091030 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney 2581 Esr1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736559 D RGD:2314005|PMID:18305958 20091030 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human) 2581 Esr1 estrogen receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:10551 D RGD:8553066|PMID:19285805 20140506 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:7240710 20230517 OMIM 2581 Esr1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:23841731|PMID:27754803|PMID:8090165|PMID:8961262 2581 Esr1 estrogen receptor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18505767 2581 Esr1 estrogen receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16220300|PMID:17176215 2581 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:10043199|PMID:16098017 20150519 RGD DNA:repeat:promoter:-1174(TA)9-25 (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:10045829|PMID:24772413 20150617 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:10045835|PMID:20128071 20150617 RGD DNA:SNP:cds:c.1782G>A (rs2228480) (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:10045840|PMID:15380041 20150617 RGD DNA:polymorphisms, haplotype:intron, exon 2581 Esr1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures no_association ISO RGD:736559 D RGD:10045833|PMID:12183765 20150617 RGD DNA:mutation, SNP:intron, exon: , 274G>C (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:736559 D RGD:10045836|PMID:12915669 20150617 RGD DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10551 D RGD:10045851|PMID:20112355 20150617 RGD associated with Osteoporosis 2581 Esr1 estrogen receptor 1 gene DOID:9002589 Bone Fractures ISO RGD:736559 D RGD:10045827|PMID:15523071 20150617 RGD DNA:SNP:intron:rs9340799 (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002589 Bone Fractures no_association ISO RGD:736559 D RGD:10045827|PMID:15523071 20150617 RGD DNA:SNP, repeat:promoter:rs2234693 (human) 2581 Esr1 estrogen receptor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 2581 Esr1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:17659810 2581 Esr1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:4892302|PMID:17659810 20110218 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9003919 Urination Disorders treatment IDA D RGD:10045674|PMID:24259512 20150616 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:736559 D RGD:4105451|PMID:14559803 20140501 RGD protein:increased phosphorylation 2581 Esr1 estrogen receptor 1 gene DOID:9004272 Varicose Ulcer no_association ISO RGD:736559 D RGD:1626508|PMID:16153823 20070810 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736559 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26990689|PMID:27366082|PMID:35044086 2581 Esr1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:736559 D RGD:10045838|PMID:16972020 20150617 RGD DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) 2581 Esr1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:736559 D RGD:8158082|PMID:16604479 20150615 RGD DNA:SNP:intron:IVS1T>C (human) 2581 Esr1 estrogen receptor 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20556506 2581 Esr1 estrogen receptor 1 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736559 D RGD:10045830|PMID:19884274 20150617 RGD DNA:SNPs:exons: (rs2077647, rs1801132) (human) 2581 Esr1 estrogen receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:17077188 2581 Esr1 estrogen receptor 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 2581 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:8552983|PMID:15637090 20140501 RGD protein:increased expression:epithelial cell, nucleus 2581 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10551 D RGD:8553057|PMID:11759285 20140506 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 2581 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10551 D RGD:2290019|PMID:18055862 20080222 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306775|PMID:15596216 20091030 RGD protein:decreased expression:penis 2581 Esr1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314014|PMID:16734901 20091030 RGD protein:decreased expression:vagina,nucleus 2581 Esr1 estrogen receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736559 D RGD:10045661|PMID:17419075 20150615 RGD DNA:SNP:intron:g.-397T>C (human) 2581 Esr1 estrogen receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 2581 Esr1 estrogen receptor 1 gene DOID:9006421 Feminization ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22275727 2581 Esr1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures IEP D RGD:10045675|PMID:25085540 20150616 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:736559 D RGD:10045832|PMID:22807154 20150617 RGD DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human) 2581 Esr1 estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736559 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:16712894 2581 Esr1 estrogen receptor 1 gene DOID:9007456 Female Infertility ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 2581 Esr1 estrogen receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736559 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:24014025|PMID:27366082 2581 Esr1 estrogen receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185510 2581 Esr1 estrogen receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:4892299|PMID:18314151 20110218 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:17417639|PMID:20104649|PMID:20458558|PMID:20966540|PMID:21501481|PMID:21541733|PMID:22038807|PMID:22174584|PMID:23001124|PMID:24014025|PMID:24185510|PMID:24185512|PMID:25330770|PMID:27580430 2581 Esr1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:8553054|PMID:19028706 20140506 RGD DNA:SNP:3' utr:rs2747648 (human) 2581 Esr1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24185510|PMID:24185512|PMID:24398047 2581 Esr1 estrogen receptor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10945602|PMID:15133719|PMID:16280033|PMID:17545528|PMID:17553133|PMID:23236557|PMID:25741868 2581 Esr1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:2314003|PMID:18854778 20091030 RGD DNA:SNPs:introns: rs3020314, rs985694, rs1884051 (human) 2581 Esr1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:2314012|PMID:17097034 20091030 RGD DNA:polymorphism 2581 Esr1 estrogen receptor 1 gene DOID:9970 obesity IDA D RGD:8553199|PMID:22230815 20140507 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:10551 D RGD:8553065|PMID:11095962 20140506 RGD 2581 Esr1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:736559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20667977 2582 Esr2 estrogen receptor 2 gene DOID:0050589 inflammatory bowel disease IDA D RGD:5509042|PMID:14500559 20111026 RGD 2582 Esr2 estrogen receptor 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:10552 D RGD:7364801|PMID:12000739 20130930 RGD protein:decreased expression:renal glomerulus (mouse) 2582 Esr2 estrogen receptor 2 gene DOID:0050902 medulloblastoma ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21351254 2582 Esr2 estrogen receptor 2 gene DOID:0060180 colitis IEP D RGD:5508810|PMID:21252046 20111024 RGD mRNA:decreased expression:colon 2582 Esr2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:10552 D RGD:5508810|PMID:21252046 20111024 RGD mRNA:decreased expression:colon 2582 Esr2 estrogen receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:69213 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 2582 Esr2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:7240710 20190315 OMIM 2582 Esr2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:8554872 20190122 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 8 PMID:30113650 2582 Esr2 estrogen receptor 2 gene DOID:0080600 COVID-19 ISO RGD:69213 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2582 Esr2 estrogen receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:69213 D RGD:8694101|PMID:17932344 20140724 RGD DNA:snps, haplotype:multiple (human) 2582 Esr2 estrogen receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:69213 D RGD:1581016|PMID:15894829 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10552 D RGD:5508772|PMID:15916731 20111021 RGD mRNA:increased expression:cerebral cortex 2582 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:69213 D RGD:5508784|PMID:15082146 20111021 RGD protein:decreased expression:choroid plexus 2582 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:5508768|PMID:17132983 20111021 RGD DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) 2582 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:8693346|PMID:15944651 20140711 RGD DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma ISO RGD:69213 D RGD:8553056|PMID:18195227 20140506 RGD DNA:SNPs, haplotypes 2582 Esr2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma severity ISO RGD:69213 D RGD:8694092|PMID:20399928 20140723 RGD DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human) 2582 Esr2 estrogen receptor 2 gene DOID:10763 hypertension IMP D RGD:7364951|PMID:23608653 20131014 RGD 2582 Esr2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:10552 D RGD:734949|PMID:11799247 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:69213 D RGD:1581015|PMID:11185739 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:69213 D RGD:1581017|PMID:15167447 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:10892 hypospadias ISO RGD:69213 D RGD:1626506|PMID:17579196 20070810 RGD DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) 2582 Esr2 estrogen receptor 2 gene DOID:10892 hypospadias susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) PMID:17579196|REF_RGD_ID:1626506 2582 Esr2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 2582 Esr2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer severity ISO RGD:69213 D RGD:7364758|PMID:23612777 20130926 RGD protein:increased expression:urinary bladder urothelium (human) 2582 Esr2 estrogen receptor 2 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:10552 D RGD:8552985|PMID:17068134 20140501 RGD 2582 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:10552 D RGD:10045841|PMID:21421090 20150617 RGD 2582 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:69213 D RGD:10045825|PMID:16530497 20150617 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) 2582 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:1626507|PMID:16777502 20070810 RGD DNA:SNP, haplotypes: :-1213T>C (human) 2582 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:7364765|PMID:22948905 20130926 RGD DNA:repeat:3' utr: g.dupCA (human) 2582 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis treatment IEP D RGD:8694129|PMID:16955786 20140724 RGD 2582 Esr2 estrogen receptor 2 gene DOID:12361 Graves' disease no_association ISO RGD:69213 D RGD:10045850|PMID:11180758 20150617 RGD DNA:repeat 2582 Esr2 estrogen receptor 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:69213 D RGD:8693348|PMID:17941906 20140711 RGD DNA:snp:intron:IVS8G>A (rs4986938) (human) 2582 Esr2 estrogen receptor 2 gene DOID:13949 interstitial cystitis ISO RGD:10552 D RGD:7364800|PMID:17522255 20130930 RGD 2582 Esr2 estrogen receptor 2 gene DOID:14330 Parkinson's disease onset ISO RGD:69213 D RGD:5508776|PMID:15219649 20111021 RGD DNA:polymorphism: :1730A>G(human) 2582 Esr2 estrogen receptor 2 gene DOID:1596 depressive disorder treatment IDA D RGD:10045672|PMID:24128867 20150616 RGD 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer ISO RGD:69213 D RGD:8552977|PMID:17904846 20140711 RGD DNA:repeat:3' utr:(CA)10-27 (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:69213 D RGD:8694110|PMID:19321582 20140724 RGD DNA:snps:multiple (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8552978|PMID:15604249 20140724 RGD DNA:snps, haplotype:multiple (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8693347|PMID:19429453 20140711 RGD DNA:snp:promoter:g.-13950C>T (rs2987983) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8693380|PMID:16808847 20140711 RGD associated with Benign Breast Disease;DNA:snp:3' utr:*5772A>G (rs8018687) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8693382|PMID:19739075 20140711 RGD DNA:snps:5' utr, exon, 3' utr:-12214C>T (rs1271572), A>G (rs928554), A>G (rs4986938) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8694090|PMID:16261413 20140723 RGD DNA:snps, haplotype:exons:g.1082G>A, g.1730G>A, A>G (rs1256049, rs4986938, rs928554) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8694096|PMID:22792352 20140724 RGD DNA:repeat:intron:IVS5(CA)9-31 (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8694103|PMID:14633679 20140724 RGD DNA:snps:intron, exon:g.14206C>T, g.33390C>G (rs1256054) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:8694116|PMID:20604969 20140724 RGD DNA:silent mutation:exon:g.1176C>G (rs1256054) (human) 2582 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer treatment IDA D RGD:7364946|PMID:23700476 20131014 RGD 2582 Esr2 estrogen receptor 2 gene DOID:1679 cystitis IEP D RGD:5508847|PMID:16894621 20111025 RGD protein:decreased expression:bladder 2582 Esr2 estrogen receptor 2 gene DOID:1712 aortic valve stenosis ISO RGD:69213 D RGD:1580704|PMID:15533858 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:1909 melanoma severity ISO RGD:69213 D RGD:8553064|PMID:19153340 20140506 RGD 2582 Esr2 estrogen receptor 2 gene DOID:1936 atherosclerosis ISO RGD:10552 D RGD:5508792|PMID:21697723 20111021 RGD 2582 Esr2 estrogen receptor 2 gene DOID:2030 anxiety disorder treatment IDA D RGD:10045678|PMID:24631553 20150616 RGD 2582 Esr2 estrogen receptor 2 gene DOID:2030 anxiety disorder treatment IDA D RGD:7364908|PMID:24015243 20131010 RGD 2582 Esr2 estrogen receptor 2 gene DOID:219 colon cancer IDA D RGD:8694174|PMID:19141699 20140728 RGD 2582 Esr2 estrogen receptor 2 gene DOID:224 transient cerebral ischemia IMP D RGD:7364962|PMID:23593292 20131014 RGD 2582 Esr2 estrogen receptor 2 gene DOID:2316 brain ischemia IEP D RGD:8694344|PMID:10414967 20140804 RGD mRNA:decreased expression:cerebral cortex, ipsilateral side (rat) 2582 Esr2 estrogen receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 2582 Esr2 estrogen receptor 2 gene DOID:2773 contact dermatitis severity ISO RGD:10552 D RGD:8694123|PMID:18167605 20140724 RGD 2582 Esr2 estrogen receptor 2 gene DOID:2841 asthma IEP D RGD:8694127|PMID:18375789 20140724 RGD mRNA:decreased expression:lung (rat) 2582 Esr2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:10552 D RGD:5509040|PMID:15618247 20111026 RGD 2582 Esr2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625110 2582 Esr2 estrogen receptor 2 gene DOID:299 adenocarcinoma ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 2582 Esr2 estrogen receptor 2 gene DOID:305 carcinoma ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 2582 Esr2 estrogen receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 2582 Esr2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20559769 2582 Esr2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:1581014|PMID:16099331 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:418 systemic scleroderma no_association ISO RGD:69213 D RGD:8553058|PMID:19032828 20140506 RGD DNA:SNP:exon: 2582 Esr2 estrogen receptor 2 gene DOID:437 myasthenia gravis ISO RGD:69213 D RGD:5509039|PMID:15661863 20111026 RGD 2582 Esr2 estrogen receptor 2 gene DOID:630 genetic disease ISO RGD:69213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2582 Esr2 estrogen receptor 2 gene DOID:6432 pulmonary hypertension IDA D RGD:5508791|PMID:21700911 20111021 RGD 2582 Esr2 estrogen receptor 2 gene DOID:657 adenoma ISO RGD:69213 D RGD:8694118|PMID:11721176 20140724 RGD ratio with Esr1;mRNA:decreased expression:thyroid gland (human) 2582 Esr2 estrogen receptor 2 gene DOID:7148 rheumatoid arthritis severity ISO RGD:69213 D RGD:5508794|PMID:21523342 20111021 RGD DNA:SNP:exon:rs1256049(human) 2582 Esr2 estrogen receptor 2 gene DOID:8283 peritonitis treatment IDA D RGD:8553243|PMID:23063870 20140508 RGD 2582 Esr2 estrogen receptor 2 gene DOID:8398 osteoarthritis ISO RGD:69213 D RGD:10045830|PMID:19884274 20150617 RGD DNA:SNP:intron: (rs1256031) (human) 2582 Esr2 estrogen receptor 2 gene DOID:8466 retinal degeneration ISO RGD:10552 D RGD:8694106|PMID:19799898 20140724 RGD 2582 Esr2 estrogen receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:69213 D RGD:5508810|PMID:21252046 20111024 RGD mRNA:decreased expression:colon 2582 Esr2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 2582 Esr2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ treatment IDA D RGD:8553211|PMID:22025007 20140507 RGD 2582 Esr2 estrogen receptor 2 gene DOID:8692 myeloid leukemia ISO RGD:10552 D RGD:734951|PMID:12740446 20130930 RGD 2582 Esr2 estrogen receptor 2 gene DOID:8719 in situ carcinoma ISO RGD:69213 D RGD:2290024|PMID:17924141 20080222 RGD protein:decreased expression:breast 2582 Esr2 estrogen receptor 2 gene DOID:8778 Crohn's disease disease_progression ISO RGD:69213 D RGD:5508810|PMID:21252046 20111024 RGD mRNA:decreased expression:colon 2582 Esr2 estrogen receptor 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10045844|PMID:25105782 20150617 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22166976 2582 Esr2 estrogen receptor 2 gene DOID:9000310 Lung Injury IDA D RGD:4892252|PMID:20195535 20111024 RGD associated with Shock, Hemorrhagic 2582 Esr2 estrogen receptor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 2582 Esr2 estrogen receptor 2 gene DOID:9000528 Coronary Disease ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17367797 2582 Esr2 estrogen receptor 2 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:69213 D RGD:2293866|PMID:18076706 20140506 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9001708 Hemorrhagic Shock IDA D RGD:8694176|PMID:16859701 20140728 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9001968 Hot Flashes treatment IDA D RGD:10045671|PMID:24823389 20150616 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia IDA D RGD:5508846|PMID:17056036 20111025 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:10552 D RGD:8553066|PMID:19285805 20140506 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:69213 D RGD:8694115|PMID:11081187 20140724 RGD mRNA:decreased expression:pituitary gland (human) 2582 Esr2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15046698|PMID:16220300|PMID:16921512|PMID:17132221|PMID:17639508|PMID:26443449 2582 Esr2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:69213 D RGD:2290023|PMID:17908481 20080222 RGD mRNA:decreased expression:prostate gland 2582 Esr2 estrogen receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:69213 D RGD:10043199|PMID:16098017 20150519 RGD DNA:repeat:intron:c.1092+3607(CA)13-27 (human) 2582 Esr2 estrogen receptor 2 gene DOID:9002457 Experimental Arthritis IDA D RGD:5508854|PMID:16269464 20111025 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002473 Blast Crisis ISO RGD:10552 D RGD:734951|PMID:12740446 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:10552 D RGD:734951|PMID:12740446 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10552 D RGD:5508732|PMID:21565615 20111020 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10552 D RGD:5508735|PMID:21182085 20111020 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:69213 D RGD:8694087|PMID:17889406 20140723 RGD DNA:snps:introns, exon:C>T (rs1256030), A>C (rs1256065), C>G (rs1255998) (human) 2582 Esr2 estrogen receptor 2 gene DOID:9003919 Urination Disorders treatment IDA D RGD:10045674|PMID:24259512 20150616 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9004118 Experimental Melanoma severity ISO RGD:10552 D RGD:8694122|PMID:20354658 20140724 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:1626508|PMID:16153823 20070810 RGD DNA:polymorphism:intron:(CA) dinucleotide repeat (human) 2582 Esr2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:8553061|PMID:18070128 20140506 RGD DNA:SNPs:promoter, exon 2582 Esr2 estrogen receptor 2 gene DOID:9004484 Sepsis IDA D RGD:5508850|PMID:16755255 20111025 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9004538 Hearing Loss ISO RGD:10552 D RGD:8553063|PMID:18317592 20140506 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69213 D RGD:1581013|PMID:16280269 19990101 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9004764 Lithiasis ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21670126 2582 Esr2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:10045847|PMID:17945165 20150617 RGD DNA:repeat:intron:IVS5-3919(CA)18-26 (human) 2582 Esr2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:10045849|PMID:22335445 20150617 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) 2582 Esr2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:1626507|PMID:16777502 20070810 RGD DNA:SNP: :-1213T>C (human) 2582 Esr2 estrogen receptor 2 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:69213 D RGD:10045830|PMID:19884274 20150617 RGD DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) 2582 Esr2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:8552983|PMID:15637090 20140501 RGD protein:increased expression:epithelial cell, nucleus 2582 Esr2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 2582 Esr2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:7364911|PMID:24078029 20131010 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17133264 2582 Esr2 estrogen receptor 2 gene DOID:9007096 Stroke treatment IDA D RGD:10045677|PMID:24406718 20150616 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures IEP D RGD:10045675|PMID:25085540 20150616 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:10045848|PMID:16939403 20150617 RGD DNA:SNPs, haplotype:intron, 3' utr:IVS2+520C>T, g.*39G>A (rs1256031, rs4986938) (human) 2582 Esr2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:1626507|PMID:16777502 20180213 RGD DNA:SNP: :-1213T>C (human) 2582 Esr2 estrogen receptor 2 gene DOID:9007355 Hashimoto Disease no_association ISO RGD:69213 D RGD:10045850|PMID:11180758 20150617 RGD DNA:repeat 2582 Esr2 estrogen receptor 2 gene DOID:9007456 Female Infertility IMP D RGD:38548924|PMID:28520870 20200825 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 2582 Esr2 estrogen receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 2582 Esr2 estrogen receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10552 D RGD:5508820|PMID:18656630 20111024 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15954165 2582 Esr2 estrogen receptor 2 gene DOID:9008681 Deafness ISO RGD:10552 D RGD:8553051|PMID:19293293 20140506 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17132221|PMID:19434490|PMID:19548127 2582 Esr2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:69213 D RGD:2290017|PMID:18234277 20080222 RGD mRNA, protein:increased expression:breast 2582 Esr2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69213 D RGD:8552984|PMID:24047421 20140501 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10552 D RGD:5508844|PMID:17336162 20111025 RGD 2582 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:5508813|PMID:20627037 20111024 RGD mRNA:increased expression: : 2582 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:5508843|PMID:17874259 20111025 RGD mRNA:decreased expression:leukocyte,mononuclear 2582 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:5508738|PMID:20961965 20111020 RGD DNA:SNP: :rs4986938 (human) 2582 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:5508817|PMID:20305046 20111024 RGD DNA:repeats:intron: 2582 Esr2 estrogen receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:69213 D RGD:7364791|PMID:21884200 20130927 RGD DNA:repeat:3' utr: g.dupCA (human) 2582 Esr2 estrogen receptor 2 gene DOID:987 alopecia no_association ISO RGD:69213 D RGD:8694094|PMID:22509838 20140724 RGD DNA:snps:multiple (human) 2582 Esr2 estrogen receptor 2 gene DOID:987 alopecia susceptibility ISO RGD:69213 D RGD:8694095|PMID:22014031 20140724 RGD DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human) 2582 Esr2 estrogen receptor 2 gene DOID:9970 obesity IDA D RGD:8553199|PMID:22230815 20140507 RGD 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:737031 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:10608 celiac disease ISO RGD:737031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:5419 schizophrenia ISO RGD:737031 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:630 genetic disease ISO RGD:737031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9004009 Reperfusion Injury ISO RGD:737031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737031 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313849|PMID:17622743 20091022 RGD protein:increased expression:retina 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9007364 Mouth Neoplasms disease_progression IEP D RGD:2303822|PMID:17708355 20091021 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression: 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9007661 Dwarfism ISO RGD:737031 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9074 systemic lupus erythematosus ISO RGD:737031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10554 D RGD:2313847|PMID:19225563 20091021 RGD protein:increased expression:nucleus 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:2313847|PMID:19225563 20091021 RGD protein:increased expression:nucleus 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:2313850|PMID:1982251 20091022 RGD 2583 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:2313901|PMID:1686010 20091026 RGD DNA:polymorphism (human) 2586 F2r coagulation factor II (thrombin) receptor gene DOID:0060903 thrombosis ISO RGD:10556 D RGD:1581036|PMID:14529396 19990101 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:10591 pre-eclampsia ISO RGD:735960 D RGD:1581033|PMID:12161502 19990101 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:10763 hypertension IDA D RGD:1581034|PMID:9168786 19990101 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:2237 hepatitis ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 2586 F2r coagulation factor II (thrombin) receptor gene DOID:2316 brain ischemia IEP D RGD:1302269|PMID:14705148 19990101 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:4247 coronary restenosis ISO RGD:10556 D RGD:1581036|PMID:14529396 19990101 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:4724 brain edema IEP D RGD:5490126|PMID:20541575 20120321 RGD associated with Cerebral Hemorrhage 2586 F2r coagulation factor II (thrombin) receptor gene DOID:5082 liver cirrhosis ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037076 2586 F2r coagulation factor II (thrombin) receptor gene DOID:630 genetic disease ISO RGD:735960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374729 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9002211 Hyperalgesia IDA D RGD:7387271|PMID:11877315 20131025 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9002211 Hyperalgesia ISO RGD:10556 D RGD:7387270|PMID:12717003 20131025 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9002211 Hyperalgesia severity ISO RGD:10556 D RGD:7387269|PMID:19674841 20131025 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9002457 Experimental Arthritis severity ISO RGD:10556 D RGD:7387269|PMID:19674841 20131025 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735960 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9005372 Inflammation ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9008114 Helicobacter Infections ISO RGD:10556 D RGD:40924630|PMID:24866378 20210114 RGD 2586 F2r coagulation factor II (thrombin) receptor gene DOID:9452 fatty liver disease ISO RGD:735960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177|PMID:22841818 2587 F3 coagulation factor III, tissue factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737354 D RGD:11060143|PMID:10946084 20160629 RGD protein:increased expression:respiratory system fluid/secretion 2587 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:11340216|PMID:10726043 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 2587 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:11340222|PMID:9153543 20160629 RGD associated with Antiphospholipid Syndrome 2587 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11858183|PMID:25339356 2587 F3 coagulation factor III, tissue factor gene DOID:0070004 myeloid neoplasm treatment ISO RGD:737354 D RGD:11340218|PMID:16959024 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:30296673|PMID:32198776 20200616 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNP: : (rs72729504) (human) 2587 F3 coagulation factor III, tissue factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:737354 D RGD:11341694|PMID:19874310 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737354 D RGD:11340209|PMID:20037809 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:737354 D RGD:11340215|PMID:19012190 20160629 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:10591 pre-eclampsia ISO RGD:737354 D RGD:11340220|PMID:19736615 20160629 RGD associated with Fetal Death;protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:10763 hypertension treatment IEP D RGD:11341709|PMID:21423288 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 2587 F3 coagulation factor III, tissue factor gene DOID:10923 sickle cell anemia ISO RGD:737354 D RGD:11341683|PMID:15795541 20160630 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation IEP D RGD:11060265|PMID:9426395 20160705 RGD mRNA, protein:increased expression:lung, plasma 2587 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:11060253|PMID:8914465 20160629 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:11341675|PMID:3802033 20160630 RGD associated with Leukemia, Myeloid 2587 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7740478|PMID:9134660|PMID:20642682 2587 F3 coagulation factor III, tissue factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:737354 D RGD:11340213|PMID:10528607 20160629 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:1168 familial hyperlipidemia ISO RGD:737354 D RGD:11060253|PMID:8914465 20160629 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:2313861|PMID:16371118 20091022 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2587 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:2313868|PMID:9285207 20091023 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:1184 nephrotic syndrome ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 2587 F3 coagulation factor III, tissue factor gene DOID:12531 von Willebrand's disease ISO RGD:737354 D RGD:11341671|PMID:4546024 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:2452 thrombophilia ISO RGD:734290 D RGD:11341696|PMID:15961065 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:2913 acute pancreatitis ISO RGD:737354 D RGD:14398732|PMID:27923687 20190515 RGD protein:increased expression:serum (human, mouse) 2587 F3 coagulation factor III, tissue factor gene DOID:3410 carotid artery thrombosis ISO RGD:737354 D RGD:2313859|PMID:17969370 20091022 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2587 F3 coagulation factor III, tissue factor gene DOID:4138 bile duct disease ISO RGD:737354 D RGD:11341737|PMID:21037076 20160705 RGD mRNA:increased expression:liver 2587 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:734290 D RGD:11341737|PMID:21037076 20160705 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 2587 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:734290 D RGD:14401724|PMID:28883694 20190515 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:737354 D RGD:14401592|PMID:9863491 20190515 RGD mRNA, protein:increased expression, increased activity:monocyte (human) 2587 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis treatment ISO RGD:737354 D RGD:14401577|PMID:15946135 20190515 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:737354 D RGD:11340210|PMID:12695751 20160629 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:5844 myocardial infarction treatment IEP D RGD:11062083|PMID:21229253 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:630 genetic disease ISO RGD:737354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2587 F3 coagulation factor III, tissue factor gene DOID:8947 diabetic retinopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:12417540|REF_RGD_ID:2313865 2587 F3 coagulation factor III, tissue factor gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:737354 D RGD:11341681|PMID:9366751 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:737354 D RGD:11341690|PMID:19535796 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9000469 Viral Myocarditis ISO RGD:734290 D RGD:11341693|PMID:18495150 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9000612 Cardiac Allograft Vasculopathy IEP D RGD:11341701|PMID:9916935 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9001268 Embolism and Thrombosis ISO RGD:737354 D RGD:11340219|PMID:16038715 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:11341708|PMID:11750579 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737354 D RGD:2313863|PMID:15004866 20091023 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:9002488 Peritoneal Fibrosis IEP D RGD:7394780|PMID:19458308 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9002514 Neointima treatment IEP D RGD:11341672|PMID:22140576 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9003121 Thromboembolism ISO RGD:737354 D RGD:11341738|PMID:24402608 20160705 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9003139 Cardiac Fibrosis ISO RGD:737354 D RGD:11341691|PMID:12426405 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9003281 Spontaneous Abortions ISO RGD:734290 D RGD:1300308|PMID:12579195 19990101 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:737354 D RGD:11340221|PMID:23873874 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9003871 Venous Thrombosis ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 2587 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis ISO RGD:737354 D RGD:11340217|PMID:9875912 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis treatment IEP D RGD:11341736|PMID:26311287 20160705 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9004610 Acute Lung Injury IEP D RGD:11341740|PMID:21964405 20160705 RGD protein:increased expression: respiratory system fluid/secretion 2587 F3 coagulation factor III, tissue factor gene DOID:9005149 Ovary Reperfusion Injury treatment IEP D RGD:11341710|PMID:26370456 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9005372 Inflammation IEP D RGD:11341739|PMID:25772383 20160705 RGD protein:increased expression:lung, pes 2587 F3 coagulation factor III, tissue factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734290 D RGD:2313862|PMID:15990447 20091022 RGD protein:increased activity:kidney 2587 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia IDA D RGD:5147765|PMID:21396682 20120322 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:737354 D RGD:11341685|PMID:20858853 20160630 RGD associated with Protein C Deficiency 2587 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia treatment ISO RGD:734290 D RGD:11340208|PMID:8956768 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11341735|PMID:25883098 20160705 RGD protein:decreased expression:lung 2587 F3 coagulation factor III, tissue factor gene DOID:9006646 Metabolic Syndrome ISO RGD:737354 D RGD:2313865|PMID:12417540 20091023 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2587 F3 coagulation factor III, tissue factor gene DOID:9007102 Myocardial Ischemia ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 2587 F3 coagulation factor III, tissue factor gene DOID:9007116 Snake Bites IEP D RGD:11341687|PMID:24831016 20160630 RGD protein:increased expression:lung, skin, plasma 2587 F3 coagulation factor III, tissue factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737354 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:22407844 2587 F3 coagulation factor III, tissue factor gene DOID:9008217 Hemorrhage ISO RGD:734290 D RGD:11341698|PMID:8692802 20160630 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9008691 Liver Injury treatment ISO RGD:734290 D RGD:14398732|PMID:27923687 20190516 RGD associated with severe acute pancreatitis 2587 F3 coagulation factor III, tissue factor gene DOID:9008939 Breast Neoplasms ISO RGD:737354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15562024 2587 F3 coagulation factor III, tissue factor gene DOID:9119 acute myeloid leukemia ISO RGD:737354 D RGD:11340207|PMID:2617479 20160629 RGD 2587 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:11060253|PMID:8914465 20160629 RGD protein:increased expression:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:2313869|PMID:9212353 20091023 RGD protein:decreased expression:urine 2587 F3 coagulation factor III, tissue factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737354 D RGD:2312381|PMID:17785358 20091022 RGD protein:increased activity:plasma 2587 F3 coagulation factor III, tissue factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737354 D RGD:11340211|PMID:8429686 20160629 RGD 2589 F9 coagulation factor IX gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735620 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2589 F9 coagulation factor IX gene DOID:0060903 thrombosis ISO RGD:735620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 2589 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:7240710 20201118 OMIM 2589 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: Warfarin sensitivity, X-linked PMID:10094553|PMID:10698280|PMID:19699296|PMID:2066105|PMID:22639855|PMID:2370049|PMID:24375831|PMID:2472424|PMID:25741868|PMID:2762170|PMID:2773937|PMID:28492532|PMID:2929599|PMID:29450643|PMID:29923114|PMID:30576981|PMID:31064749|PMID:3262389|PMID:7937052|PMID:8320491|PMID:8833911|PMID:9233593|PMID:9525872 2589 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:7240710 20130731 OMIM 2589 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect PMID:10094553|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:11122099|PMID:11328285|PMID:12588353|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1864609|PMID:1873221|PMID:19286883|PMID:1968152|PMID:19699296|PMID:19846852|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:23617593|PMID:2370049|PMID:24375831|PMID:2450455|PMID:2472424|PMID:25326637|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2752109|PMID:27529981|PMID:2762170|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:2929599|PMID:29517974|PMID:29656491|PMID:29993188|PMID:31064749|PMID:31272859|PMID:3181127|PMID:32581362|PMID:3262389|PMID:34272389|PMID:34355501|PMID:34590426|PMID:35770352|PMID:3857619|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791|PMID:9525872 2589 F9 coagulation factor IX gene DOID:12134 factor VIII deficiency ISO RGD:735620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16051741 2589 F9 coagulation factor IX gene DOID:12134 factor VIII deficiency ISO RGD:735620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:10094553|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:11122099|PMID:11328285|PMID:12588353|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1864609|PMID:1873221|PMID:1968152|PMID:19699296|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:24375831|PMID:2472424|PMID:25326637|PMID:25741868|PMID:2752109|PMID:27529981|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:2929599|PMID:29656491|PMID:29993188|PMID:31064749|PMID:3181127|PMID:32581362|PMID:34272389|PMID:34355501|PMID:34590426|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:10559 D RGD:10450762|PMID:9354664 20160121 RGD 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:10450759|PMID:2752145 20160121 RGD DNA:nonsense mutation:cds:p.R338X (human) 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:10450760|PMID:2714791 20160121 RGD DNA:mutations:cds:P.G396R,K411X,I397T(human) 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2388855|PMID:7062952 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:7240710 20130731 OMIM 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10090477|PMID:10094553|PMID:10373456|PMID:10595634|PMID:10647899|PMID:10698280|PMID:10739381|PMID:10874302|PMID:10942410|PMID:10980527|PMID:11013449|PMID:11122099|PMID:11328285|PMID:12588353|PMID:12709378|PMID:12780784|PMID:12997790|PMID:1346077|PMID:1346975|PMID:1357229|PMID:14675097|PMID:15086324|PMID:15178576|PMID:15569175|PMID:1579901|PMID:15921378|PMID:1598234|PMID:1615485|PMID:1615486|PMID:16199547|PMID:16270648|PMID:1631121|PMID:1631558|PMID:16643212|PMID:1680287|PMID:1680373|PMID:17014892|PMID:1733855|PMID:17397055|PMID:17576681|PMID:1796396|PMID:18479429|PMID:18540896|PMID:18624698|PMID:1864609|PMID:1873221|PMID:1897528|PMID:1902289|PMID:19236374|PMID:19286883|PMID:19522246|PMID:1958666|PMID:1968152|PMID:19686262|PMID:1969838|PMID:19699296|PMID:1972560|PMID:19763152|PMID:19815722|PMID:19846852|PMID:1986380|PMID:1998585|PMID:2004020|PMID:20059559|PMID:20301668|PMID:20305539|PMID:20307669|PMID:2066105|PMID:20695909|PMID:2087690|PMID:2093364|PMID:2111833|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22406018|PMID:22544209|PMID:22639855|PMID:2270538|PMID:22707612|PMID:23093250|PMID:2320433|PMID:2339358|PMID:2342576|PMID:23472758|PMID:2352926|PMID:2355000|PMID:23617593|PMID:2370049|PMID:2372509|PMID:2388855|PMID:23913812|PMID:23998594|PMID:24375831|PMID:2438804|PMID:2450455|PMID:24533955|PMID:2472424|PMID:24816826|PMID:2494175|PMID:25251685|PMID:25326637|PMID:25470321|PMID:2563663|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2592373|PMID:25929987|PMID:26612714|PMID:27109384|PMID:2714791|PMID:27213901|PMID:27227676|PMID:2738071|PMID:2741941|PMID:2743975|PMID:27501440|PMID:2752109|PMID:27529981|PMID:2753873|PMID:2757966|PMID:2762170|PMID:2773937|PMID:2775660|PMID:27824213|PMID:27865967|PMID:28168417|PMID:28193338|PMID:2821070|PMID:2831715|PMID:2841226|PMID:2846283|PMID:2848757|PMID:28492532|PMID:2873459|PMID:28752769|PMID:2875754|PMID:28834196|PMID:2886685|PMID:2917196|PMID:2929599|PMID:29296726|PMID:29450643|PMID:29517974|PMID:29656491|PMID:29923114|PMID:2992643|PMID:29993188|PMID:3009023|PMID:3029178|PMID:30576981|PMID:31026269|PMID:31064749|PMID:31272859|PMID:3181127|PMID:31840356|PMID:32155688|PMID:3243764|PMID:32581362|PMID:32596782|PMID:3262389|PMID:32875744|PMID:32935414|PMID:3392024|PMID:3401602|PMID:3411192|PMID:3416069|PMID:34272389|PMID:34355501|PMID:34590426|PMID:3461460|PMID:34626083|PMID:35770352|PMID:3790720|PMID:3857619|PMID:3965513|PMID:4033760|PMID:4045960|PMID:4163943|PMID:5298508|PMID:5450691|PMID:6603618|PMID:6843667|PMID:7062952|PMID:7101232|PMID:734633|PMID:7482402|PMID:7677806|PMID:7734378|PMID:7873393|PMID:7937052|PMID:7989034|PMID:8055323|PMID:8091381|PMID:8178822|PMID:8199596|PMID:8217825|PMID:8251390|PMID:8257988|PMID:8304338|PMID:8314564|PMID:8318985|PMID:8320491|PMID:8352232|PMID:8365725|PMID:8392713|PMID:8412791|PMID:8434583|PMID:8470048|PMID:8478007|PMID:8499919|PMID:8499951|PMID:8594556|PMID:8680410|PMID:8772212|PMID:8825645|PMID:8833911|PMID:884315|PMID:8990015|PMID:9222764|PMID:9450791|PMID:9525872|PMID:9536098|PMID:9590153|PMID:9600455 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:9685705|PMID:2041805 19990101 RGD 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B treatment ISO RGD:735620 D RGD:10450761|PMID:21122306 20160121 RGD 2589 F9 coagulation factor IX gene DOID:12259 hemophilia B treatment ISO RGD:735620 D RGD:10450764|PMID:20351275 20160121 RGD 2589 F9 coagulation factor IX gene DOID:1247 blood coagulation disease ISO RGD:735620 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:2066105|PMID:23093250|PMID:25326637|PMID:25741868|PMID:27529981|PMID:27865967|PMID:28492532|PMID:29656491|PMID:31064749|PMID:34355501 2589 F9 coagulation factor IX gene DOID:12849 autistic disorder ISO RGD:735620 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2589 F9 coagulation factor IX gene DOID:1790 malignant mesothelioma ISO RGD:735620 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 2589 F9 coagulation factor IX gene DOID:630 genetic disease ISO RGD:735620 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19846852|PMID:7937052 2589 F9 coagulation factor IX gene DOID:9004484 Sepsis treatment IEP D RGD:1598921|PMID:12000738 20160121 RGD 2589 F9 coagulation factor IX gene DOID:9352 type 2 diabetes mellitus ISO RGD:735620 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased activity:plasma (human) 2590 Fabp1 fatty acid binding protein 1 gene DOID:10763 hypertension ISO RGD:736881 D RGD:1626441|PMID:15830271 20070808 RGD possibly associated with arteriosclerosis (MeSH:D001161) 2590 Fabp1 fatty acid binding protein 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:736881 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18368030 2590 Fabp1 fatty acid binding protein 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736881 D RGD:1578453|PMID:16118482 19990101 RGD protein:increased expression:urine (human) 2590 Fabp1 fatty acid binding protein 1 gene DOID:630 genetic disease ISO RGD:736881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2590 Fabp1 fatty acid binding protein 1 gene DOID:783 end stage renal disease ISO RGD:736881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 2590 Fabp1 fatty acid binding protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736881 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 2590 Fabp1 fatty acid binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:10563 D RGD:1626440|PMID:17058218 20070807 RGD Western diet-induced hepatic steatosis 2590 Fabp1 fatty acid binding protein 1 gene DOID:9455 lipid storage disease ISO RGD:736881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 2590 Fabp1 fatty acid binding protein 1 gene DOID:9970 obesity ISO RGD:10563 D RGD:1626440|PMID:17058218 20070807 RGD Western diet-induced obesity 2591 Fabp2 fatty acid binding protein 2 gene DOID:13001 carotid stenosis ISO RGD:735842 D RGD:1582392|PMID:16013194 20061107 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:735842 D RGD:1578455|PMID:16289894 19990101 RGD DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset 2591 Fabp2 fatty acid binding protein 2 gene DOID:14018 alcoholic liver cirrhosis onset ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset PMID:16289894|REF_RGD_ID:1578455 2591 Fabp2 fatty acid binding protein 2 gene DOID:3393 coronary artery disease ISO RGD:735842 D RGD:1626412|PMID:15059615 20070807 RGD associated with Diabetes Mellitus, Type 2 (MeSH:D003924) 2591 Fabp2 fatty acid binding protein 2 gene DOID:630 genetic disease ISO RGD:735842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2591 Fabp2 fatty acid binding protein 2 gene DOID:783 end stage renal disease ISO RGD:735842 D RGD:1578457|PMID:16249461 19990101 RGD DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) 2591 Fabp2 fatty acid binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2591 Fabp2 fatty acid binding protein 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735842 D RGD:1578457|PMID:16249461 20070806 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735842 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2591 Fabp2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:1300313|PMID:10999802 19990101 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) 2591 Fabp2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:1626401|PMID:16919542 20070806 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735842 D RGD:1626401|PMID:16919542 20070806 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:9007096 Stroke ISO RGD:735842 D RGD:1300312|PMID:10946885 19990101 RGD DNA:missense mutation:cds:p.A54T (human) 2591 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:1300314|PMID:7883976 20110705 RGD DNA:SNP:CDS:p.A54T (human) 2591 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:1578456|PMID:16311100 19990101 RGD DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge 2591 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:1626400|PMID:14981227 20070806 RGD DNA:polymorphism:CDS:p.A54T (human) 2591 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF PMID:10946885|PMID:10999802|PMID:12161503|PMID:14666368|PMID:15572430|PMID:7883976|PMID:9253345 2591 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:735842 D RGD:1626407|PMID:17211557 20070806 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735842 D RGD:1626401|PMID:16919542 20070806 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:9970 obesity ISO RGD:735842 D RGD:1626400|PMID:14981227 20070806 RGD DNA:polymorphism:CDS:p.A54T (human) 2591 Fabp2 fatty acid binding protein 2 gene DOID:9970 obesity no_association ISO RGD:735842 D RGD:1626407|PMID:17211557 20070806 RGD 2591 Fabp2 fatty acid binding protein 2 gene DOID:9970 obesity onset ISO RGD:735842 D RGD:1578458|PMID:15620432 20070806 RGD 2592 Fabp6 fatty acid binding protein 6 gene DOID:630 genetic disease ISO RGD:737077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2593 Fancc FA complementation group C gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735813 D RGD:11049143|PMID:17409780 20160707 RGD 2593 Fancc FA complementation group C gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735813 D RGD:11045795|PMID:21670957 20160404 RGD DNA:haplotype::rs4647416(human) 2593 Fancc FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:7240710 20130425 OMIM 2593 Fancc FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10431244|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19278965|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29360161|PMID:29643063|PMID:29719599|PMID:30031030|PMID:30306255|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:8128956|PMID:8348157|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 2593 Fancc FA complementation group C gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:735813 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 2593 Fancc FA complementation group C gene DOID:1059 intellectual disability ISO RGD:735813 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2593 Fancc FA complementation group C gene DOID:12450 pancytopenia ISO RGD:10566 D RGD:11045793|PMID:9531583 20160404 RGD Low dose of mitomycin C 0.3mg/kg 2593 Fancc FA complementation group C gene DOID:12450 pancytopenia ISO RGD:735813 D RGD:11045794|PMID:10627482 20160404 RGD 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:11041907|PMID:16429406 20160404 RGD DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human) 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:13636 Fanconi anemia onset ISO RGD:735813 D RGD:11344914|PMID:11110674 20160708 RGD DNA:deletion: :322delG (human) 2593 Fancc FA complementation group C gene DOID:14115 toxic shock syndrome ISO RGD:10566 D RGD:11045879|PMID:17404312 20160404 RGD 2593 Fancc FA complementation group C gene DOID:1520 colon carcinoma ISO RGD:735813 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 2593 Fancc FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:11046263|PMID:23028338 20160404 RGD DNA:mutations:exons: 2593 Fancc FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32659497|PMID:32885271|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:2317238|PMID:16243825 20100322 RGD 2593 Fancc FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:2317239|PMID:15695377 20100322 RGD DNA:nonsense mutation (human) 2593 Fancc FA complementation group C gene DOID:2018 hyperinsulinism ISO RGD:735813 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 2593 Fancc FA complementation group C gene DOID:2394 ovarian cancer ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:32885271 2593 Fancc FA complementation group C gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 2593 Fancc FA complementation group C gene DOID:5426 primary ovarian insufficiency ISO RGD:735813 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 2593 Fancc FA complementation group C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735813 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 2593 Fancc FA complementation group C gene DOID:630 genetic disease ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2593 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10666230|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30676620|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 2593 Fancc FA complementation group C gene DOID:9007456 Female Infertility ISO RGD:10566 D RGD:1300317|PMID:8704201 20180126 RGD 2593 Fancc FA complementation group C gene DOID:9007692 Insulin Resistance ISO RGD:10566 D RGD:11046266|PMID:22482891 20160404 RGD 2593 Fancc FA complementation group C gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:735813 D RGD:11046259|PMID:12670332 20160404 RGD DNA:polymorphism:cds:p.S26F (human) 2593 Fancc FA complementation group C gene DOID:9970 obesity ISO RGD:10566 D RGD:11046266|PMID:22482891 20160404 RGD 2594 Fbln5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:7240710 20130221 OMIM 2594 Fbln5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:12189163|PMID:16374472|PMID:16652333|PMID:16691202|PMID:17035250|PMID:18185537|PMID:20007835|PMID:20599547|PMID:21576112|PMID:22829427|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220|PMID:3232707 2594 Fbln5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:7240710 20140911 OMIM 2594 Fbln5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 PMID:12618961|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220 2594 Fbln5 fibulin 5 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736145 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2594 Fbln5 fibulin 5 gene DOID:0080054 achondrogenesis type IA ISO RGD:736145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 2594 Fbln5 fibulin 5 gene DOID:11162 respiratory failure ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2594 Fbln5 fibulin 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2594 Fbln5 fibulin 5 gene DOID:12377 spinal muscular atrophy ISO RGD:736145 D RGD:8554872 20180821 ClinVar ClinVar Annotator: match by term: Proximal spinal muscular atrophy 2594 Fbln5 fibulin 5 gene DOID:178 vascular disease ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2594 Fbln5 fibulin 5 gene DOID:2349 arteriosclerosis ISO RGD:736146 D RGD:69830|PMID:10428823 20061108 RGD 2594 Fbln5 fibulin 5 gene DOID:3144 cutis laxa ISO RGD:736145 D RGD:1300360|PMID:12189163 19990101 RGD DNA:missense mutation:cds:p.S227P (human) 2594 Fbln5 fibulin 5 gene DOID:3144 cutis laxa ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28765615|PMID:29653220 2594 Fbln5 fibulin 5 gene DOID:3144 cutis laxa ISS RGD:736146 D RGD:13592920 20180518 MouseDO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 2594 Fbln5 fibulin 5 gene DOID:4448 macular degeneration ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:24033266|PMID:28492532 2594 Fbln5 fibulin 5 gene DOID:6000 congestive heart failure ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2594 Fbln5 fibulin 5 gene DOID:630 genetic disease ISO RGD:736145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 2594 Fbln5 fibulin 5 gene DOID:6432 pulmonary hypertension ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2594 Fbln5 fibulin 5 gene DOID:7319 axonal neuropathy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:28492532 2594 Fbln5 fibulin 5 gene DOID:8501 fundus dystrophy ISO RGD:736145 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 2594 Fbln5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:7240710 20220316 OMIM 2594 Fbln5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:16652333|PMID:21576112|PMID:23328402|PMID:25741868|PMID:28332470|PMID:28492532|PMID:29653220|PMID:31945625|PMID:32757322 2594 Fbln5 fibulin 5 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2594 Fbln5 fibulin 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 2594 Fbln5 fibulin 5 gene DOID:9002884 Emphysema ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2594 Fbln5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:7240710 20130425 OMIM 2594 Fbln5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:23328402|PMID:24033266|PMID:25741868|PMID:28332470|PMID:28492532|PMID:28765615|PMID:29653220|PMID:31945625|PMID:32757322 2594 Fbln5 fibulin 5 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:12642 hiatus hernia ISO RGD:735552 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:14330 Parkinson's disease ISO RGD:735552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9382095 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:1601165|PMID:7763253 20070410 RGD DNA:insertion, DNA:point mutations:G164S, A177D, Q30X 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:7240710 20130221 OMIM 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:7763253|PMID:9382095|PMID:9536098 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:31584309|PMID:7763253|PMID:9382095|PMID:9536098 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:5419 schizophrenia ISO RGD:735552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:630 genetic disease ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25601412|PMID:25741868|PMID:26549536|PMID:28420223|PMID:28492532|PMID:28776561|PMID:30193751|PMID:30927757|PMID:7763253|PMID:9382095 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 2595 Fbp1 fructose-bisphosphatase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:735552 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 2597 Fcer1a Fc epsilon receptor Ia gene DOID:0060500 drug allergy ISO RGD:736318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17125826|PMID:20485159 2597 Fcer1a Fc epsilon receptor Ia gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2597 Fcer1a Fc epsilon receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:736318 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2597 Fcer1a Fc epsilon receptor Ia gene DOID:1555 urticaria ISO RGD:736318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 2597 Fcer1a Fc epsilon receptor Ia gene DOID:2841 asthma ISO RGD:736318 D RGD:5128711|PMID:21388666 20110315 RGD Asthma symptoms persistent despite steroids in humans 2597 Fcer1a Fc epsilon receptor Ia gene DOID:2841 asthma severity ISO RGD:736318 D RGD:9068941 20200609 RGD Fatal asthma subjects PMID:20937062|REF_RGD_ID:5128717 2597 Fcer1a Fc epsilon receptor Ia gene DOID:4483 rhinitis ISO RGD:736318 D RGD:5128714|PMID:20650300 20110315 RGD 2597 Fcer1a Fc epsilon receptor Ia gene DOID:630 genetic disease ISO RGD:736318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2597 Fcer1a Fc epsilon receptor Ia gene DOID:9005236 Drug Eruptions ISO RGD:736318 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 2597 Fcer1a Fc epsilon receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736318 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:0060500 drug allergy ISO RGD:1350065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16839402|PMID:18534082|PMID:20485159 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:0080600 COVID-19 ISO RGD:1350065 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1350065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:1059 intellectual disability ISO RGD:1350065 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma ISO RGD:1350065 D RGD:1599903|PMID:8817330 20070220 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:5131092|PMID:19862939 20110420 RGD DNA:SNP: : -109C>T (human) 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:5131149|PMID:21320344 20110420 RGD DNA:SNPs: : rs556917, rs502581, rs502419 (human) 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:5131151|PMID:19218813 20110420 RGD DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:3310 atopic dermatitis ISO RGD:1350065 D RGD:1599903|PMID:8817330 20070220 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:4483 rhinitis ISO RGD:1350065 D RGD:5131152|PMID:15480314 20110420 RGD 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:630 genetic disease ISO RGD:1350065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:1350065 D RGD:5131116|PMID:17430357 20110420 RGD DNA:polymorphism:CDS: E237G (human) 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1350065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1350065 D RGD:1599903|PMID:8817330 20070220 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9003157 Respiratory Sounds ISO RGD:1350065 D RGD:5131102|PMID:18269668 20110420 RGD DNA:polymorphism:CDS: E237G (human) 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1350065 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2598 Ms4a2 membrane spanning 4-domains A2 gene DOID:9008727 Ige Responsiveness, Atopic susceptibility ISO RGD:1350065 D RGD:7240710 20230505 OMIM 2599 Fcer1g Fc epsilon receptor Ig gene DOID:0060500 drug allergy ISO RGD:736226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18534082|PMID:18595682 2599 Fcer1g Fc epsilon receptor Ig gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2599 Fcer1g Fc epsilon receptor Ig gene DOID:1540 parathyroid carcinoma ISO RGD:736226 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2599 Fcer1g Fc epsilon receptor Ig gene DOID:630 genetic disease ISO RGD:736226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2599 Fcer1g Fc epsilon receptor Ig gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18595682 2599 Fcer1g Fc epsilon receptor Ig gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2599 Fcer1g Fc epsilon receptor Ig gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736226 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2603 Fga fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:7240710 20130221 OMIM 2603 Fga fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: Amyloidosis 8 | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:25741868|PMID:25816717|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:31064749|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8097946|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8639778|PMID:8944230|PMID:9389696|PMID:9536098 2603 Fga fibrinogen alpha chain gene DOID:0060903 thrombosis ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 2603 Fga fibrinogen alpha chain gene DOID:0112313 brain small vessel disease ISO RGD:737209 D RGD:5688761|PMID:17951283 20120306 RGD DNA:polymorphisms, haplotypes 2603 Fga fibrinogen alpha chain gene DOID:10126 keratoconus ISO RGD:737209 D RGD:11040557|PMID:24194634 20160310 RGD protein:decreased expression:tear (human) 2603 Fga fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation IEP D RGD:10755508|PMID:23538169 20160129 RGD protein:decreased expression:plasma (rat) 2603 Fga fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation treatment IDA D RGD:10755509|PMID:22800895 20160129 RGD 2603 Fga fibrinogen alpha chain gene DOID:11476 osteoporosis ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2603 Fga fibrinogen alpha chain gene DOID:13580 cholestasis ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 2603 Fga fibrinogen alpha chain gene DOID:1588 thrombocytopenia ISO RGD:737209 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:28492532 2603 Fga fibrinogen alpha chain gene DOID:1588 thrombocytopenia treatment IMP D RGD:10755505|PMID:2005585 20160129 RGD 2603 Fga fibrinogen alpha chain gene DOID:2213 hemorrhagic disease ISO RGD:737209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:17982313|PMID:22880226|PMID:237956|PMID:25741868|PMID:25816717|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:31064749|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640 2603 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:11040559|PMID:10602365 20160310 RGD DNA:deletion:cds: (human) 2603 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1391954|PMID:10602365|PMID:10891444|PMID:12358944 2603 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:5688762|PMID:15795544 20061108 RGD 2603 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:7240710 20151216 OMIM 2603 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 2603 Fga fibrinogen alpha chain gene DOID:2316 brain ischemia treatment IDA D RGD:11040923|PMID:22737923 20160316 RGD 2603 Fga fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 2603 Fga fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:1601167|PMID:10910940 20070410 RGD DNA:polymorphism:p.T312A (human) 2603 Fga fibrinogen alpha chain gene DOID:2841 asthma treatment IDA D RGD:11040539|PMID:24523826 20160310 RGD 2603 Fga fibrinogen alpha chain gene DOID:3021 acute kidney failure IEP D RGD:9685024|PMID:15805072 20141215 RGD mRNA:increased expression:kidney (rat) 2603 Fga fibrinogen alpha chain gene DOID:4989 pancreatitis IEP D RGD:5688770|PMID:19954227 20120306 RGD protein:increased expression:pancreas, rough endoplasmic reticulum 2603 Fga fibrinogen alpha chain gene DOID:557 kidney disease ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 2603 Fga fibrinogen alpha chain gene DOID:630 genetic disease ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2603 Fga fibrinogen alpha chain gene DOID:684 hepatocellular carcinoma ISO RGD:737209 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 2603 Fga fibrinogen alpha chain gene DOID:8778 Crohn's disease ISO RGD:737209 D RGD:5688758|PMID:19683480 20120306 RGD 2603 Fga fibrinogen alpha chain gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:9685021|PMID:23503399 20141215 RGD mRNA:increased expression:liver (rat) 2603 Fga fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:7240710 20171011 OMIM 2603 Fga fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 PMID:10605955|PMID:10887149|PMID:10891444|PMID:11435303|PMID:11460527|PMID:12050338|PMID:14615374|PMID:15795544|PMID:16651864|PMID:1675636|PMID:16846481|PMID:17576681|PMID:17982313|PMID:19109585|PMID:1912564|PMID:19468208|PMID:22880226|PMID:22967385|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:25981141|PMID:26006300|PMID:26577257|PMID:26676819|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:3667568|PMID:4052020|PMID:4082078|PMID:6191801|PMID:6667926|PMID:7298640|PMID:8113408|PMID:8140431|PMID:8457654|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 2603 Fga fibrinogen alpha chain gene DOID:9003505 Venous Thromboembolism ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16362348 2603 Fga fibrinogen alpha chain gene DOID:9003505 Venous Thromboembolism ISO RGD:737209 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:10910940|PMID:16362348|PMID:25741868 2603 Fga fibrinogen alpha chain gene DOID:9003871 Venous Thrombosis IEP D RGD:7207783|PMID:23199547 20160310 RGD protein:increased expression:peripheral blood (rat) 2603 Fga fibrinogen alpha chain gene DOID:9003871 Venous Thrombosis ISO RGD:737209 D RGD:5688756|PMID:22353194 20120306 RGD DNA:SNP: :rs6050 (human) 2603 Fga fibrinogen alpha chain gene DOID:9003871 Venous Thrombosis ISO RGD:737209 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep vein thrombosis PMID:25741868|PMID:34355501|PMID:8473507|PMID:8636415 2603 Fga fibrinogen alpha chain gene DOID:9004484 Sepsis IEP D RGD:9685020|PMID:24667622 20141215 RGD protein:decreased expression:serum (rat) 2603 Fga fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 2603 Fga fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:1601166|PMID:8097946 20070410 RGD renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human) 2603 Fga fibrinogen alpha chain gene DOID:9004590 Acute Liver Failure treatment IDA D RGD:11040538|PMID:24799907 20160310 RGD 2603 Fga fibrinogen alpha chain gene DOID:9004610 Acute Lung Injury IEP D RGD:7387313|PMID:22804886 20160316 RGD protein:increased expression:blood (rat) 2603 Fga fibrinogen alpha chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital PMID:10891444|PMID:11914657|PMID:14615374|PMID:17576681|PMID:25320241|PMID:25741868|PMID:2742828|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31583746|PMID:4084461|PMID:6575689|PMID:9536098 2603 Fga fibrinogen alpha chain gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9684989|PMID:23086277 20141212 RGD protein:increased expression:plasma (rat) 2603 Fga fibrinogen alpha chain gene DOID:9005930 Endotoxemia treatment IDA D RGD:11040925|PMID:19295478 20160316 RGD 2603 Fga fibrinogen alpha chain gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7175292|PMID:21685370 20121205 RGD mRNA,protein:increased expression:kidney 2603 Fga fibrinogen alpha chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 2603 Fga fibrinogen alpha chain gene DOID:9007096 Stroke ISO RGD:737209 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 2603 Fga fibrinogen alpha chain gene DOID:9007096 Stroke ISO RGD:737209 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 2603 Fga fibrinogen alpha chain gene DOID:9007364 Mouth Neoplasms ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16239339 2603 Fga fibrinogen alpha chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 2603 Fga fibrinogen alpha chain gene DOID:9007730 Burns IEP D RGD:5131457|PMID:20664819 20160316 RGD protein:increased expression:plasma (rat) 2603 Fga fibrinogen alpha chain gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:737209 D RGD:5688767|PMID:21887273 20120306 RGD 2603 Fga fibrinogen alpha chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737209 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased activity:plasma (human) 2603 Fga fibrinogen alpha chain gene DOID:9477 pulmonary embolism IEP D RGD:5688769|PMID:22014850 20120306 RGD protein:increased expression:blood microparticle 2603 Fga fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:737209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10910940 2603 Fga fibrinogen alpha chain gene DOID:9675 pulmonary emphysema IEP D RGD:11040553|PMID:20949089 20160310 RGD protein:increased expression:plasma (rat) 2603 Fga fibrinogen alpha chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737209 D RGD:11040558|PMID:25317080 20160310 RGD protein:increased expression:serum (human) 2604 Fgb fibrinogen beta chain gene DOID:0060903 thrombosis ISO RGD:734251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:19420351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749 2604 Fgb fibrinogen beta chain gene DOID:0060903 thrombosis susceptibility ISO RGD:734251 D RGD:7175506|PMID:17469143 20121205 RGD associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human) 2604 Fgb fibrinogen beta chain gene DOID:11476 osteoporosis ISO RGD:734251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2604 Fgb fibrinogen beta chain gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:734251 D RGD:5688760|PMID:18278190 20120306 RGD 2604 Fgb fibrinogen beta chain gene DOID:14330 Parkinson's disease ISO RGD:734251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 2604 Fgb fibrinogen beta chain gene DOID:2213 hemorrhagic disease ISO RGD:734251 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:19420351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749 2604 Fgb fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:7240710 20151216 OMIM 2604 Fgb fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:737709|PMID:12393540 20150126 RGD 2604 Fgb fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10666208|PMID:10688828|PMID:11468164|PMID:12161363|PMID:12393540|PMID:12573244|PMID:15070683|PMID:1565641|PMID:15795540|PMID:19420351|PMID:21713329|PMID:22273812|PMID:22836883|PMID:23061815|PMID:24033266|PMID:24679643|PMID:25320241|PMID:25592583|PMID:25741868|PMID:27164460|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31314131|PMID:3194892|PMID:34355501 2604 Fgb fibrinogen beta chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:734252 D RGD:30310231|PMID:23919993 20200624 RGD protein:increased expression:lung (mouse) 2604 Fgb fibrinogen beta chain gene DOID:3393 coronary artery disease ISO RGD:734251 D RGD:1580382|PMID:8565160 19990101 RGD 2604 Fgb fibrinogen beta chain gene DOID:3407 carotid artery disease ISO RGD:734251 D RGD:1580383|PMID:9514419 19990101 RGD 2604 Fgb fibrinogen beta chain gene DOID:4989 pancreatitis IEP D RGD:5688770|PMID:19954227 20120306 RGD protein:increased expression:pancreas, rough endoplasmic reticulum 2604 Fgb fibrinogen beta chain gene DOID:5844 myocardial infarction ISO RGD:734251 D RGD:1331525|PMID:15118671 19990101 GAD 2604 Fgb fibrinogen beta chain gene DOID:5844 myocardial infarction ISO RGD:734251 D RGD:1580381|PMID:9437197 19990101 RGD 2604 Fgb fibrinogen beta chain gene DOID:630 genetic disease ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2604 Fgb fibrinogen beta chain gene DOID:783 end stage renal disease treatment ISO RGD:734251 D RGD:7175505|PMID:19352213 20121205 RGD associated with hypertension;DNA:polymorphism: :-455G>A (human) 2604 Fgb fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:10450765|PMID:24711018 20160121 RGD DNA:mutation:missense mutation:g.g.9692A>G(human) 2604 Fgb fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:10450766|PMID:12511408 20160121 RGD DNA:nonsense mutation:cds:p.w467X(human) 2604 Fgb fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:7240710 20171011 OMIM 2604 Fgb fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia, congenital PMID:25741868 2604 Fgb fibrinogen beta chain gene DOID:9003871 Venous Thrombosis ISO RGD:734251 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12573244|PMID:15795540|PMID:25741868|PMID:28492532|PMID:31064749 2604 Fgb fibrinogen beta chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT PMID:11468164|PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31314131|PMID:3194892 2604 Fgb fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7175292|PMID:21685370 20121129 RGD mRNA, protein:increased expression:kidney 2604 Fgb fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:734251 D RGD:7175292|PMID:21685370 20121129 RGD 2604 Fgb fibrinogen beta chain gene DOID:9007096 Stroke ISO RGD:734251 D RGD:1331525|PMID:15118671 19990101 GAD 2604 Fgb fibrinogen beta chain gene DOID:9007096 Stroke ISO RGD:734251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:31064749|PMID:31314131 2604 Fgb fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:10450767|PMID:24107890 20160121 RGD DNA:polymorphism: :-455G>A(human) 2604 Fgb fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:5688760|PMID:18278190 20120306 RGD DNA:SNP:promoter:1038G>A (rs1800791) (human) 2604 Fgb fibrinogen beta chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734251 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased expression:plasma 2604 Fgb fibrinogen beta chain gene DOID:9477 pulmonary embolism IEP D RGD:5688769|PMID:22014850 20120306 RGD protein:increased expression:blood microparticle 2605 Fgf1 fibroblast growth factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2605 Fgf1 fibroblast growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735698 D RGD:5509878|PMID:20079650 20111109 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:735698 D RGD:2290291|PMID:11908679 20080304 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:1240 leukemia ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17219402 2605 Fgf1 fibroblast growth factor 1 gene DOID:127 leiomyoma disease_progression ISO RGD:735698 D RGD:2290287|PMID:16139411 20080304 RGD protein:increased expression:uterus 2605 Fgf1 fibroblast growth factor 1 gene DOID:1380 endometrial cancer disease_progression ISO RGD:735698 D RGD:2298516|PMID:8685603 20080707 RGD mRNA:increased expression:myometrium 2605 Fgf1 fibroblast growth factor 1 gene DOID:2316 brain ischemia IDA D RGD:5509879|PMID:19497570 20111109 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:735698 D RGD:5509881|PMID:16635575 20111109 RGD Rat model using human FGF1 2605 Fgf1 fibroblast growth factor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735698 D RGD:2290288|PMID:14613644 20080304 RGD mRNA:increased expression:ovary 2605 Fgf1 fibroblast growth factor 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:735698 D RGD:2298518|PMID:7690426 20080707 RGD protein:increased expression:urine, urinary bladder 2605 Fgf1 fibroblast growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 2605 Fgf1 fibroblast growth factor 1 gene DOID:5419 schizophrenia ISO RGD:735698 D RGD:5509880|PMID:17893707 20111109 RGD human GWAS result 2605 Fgf1 fibroblast growth factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:735698 D RGD:10449026|PMID:24200746 20151214 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:630 genetic disease ISO RGD:735698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2605 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:5509876|PMID:8662542 20111109 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:5509877|PMID:20488178 20111109 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:2317692|PMID:18482974 20111109 RGD Human FGF1 used in rat model of spinal cord injury 2605 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:5509875|PMID:21663406 20111109 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735698 D RGD:2290286|PMID:17242701 20080304 RGD associated with Cervix Neoplasms;mRNA:increased expression:lymph node 2605 Fgf1 fibroblast growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:735698 D RGD:8655569|PMID:16720444 20140516 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 2605 Fgf1 fibroblast growth factor 1 gene DOID:9003566 Mesothelioma ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 2605 Fgf1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury IDA D RGD:5509879|PMID:19497570 20111109 RGD 2605 Fgf1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735698 D RGD:5509881|PMID:16635575 20111109 RGD Rat model using human FGF1 2605 Fgf1 fibroblast growth factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735698 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2605 Fgf1 fibroblast growth factor 1 gene DOID:9004657 Weight Gain ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2605 Fgf1 fibroblast growth factor 1 gene DOID:9006024 Hypotension ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9233905 2605 Fgf1 fibroblast growth factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2605 Fgf1 fibroblast growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2605 Fgf1 fibroblast growth factor 1 gene DOID:9296 cleft lip ISO RGD:735698 D RGD:11567264|PMID:24613087 20161205 RGD DNA:SNP: :rs34010 (human) 2606 Fgf10 fibroblast growth factor 10 gene DOID:0050331 LADD syndrome ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:16630169|PMID:17213838|PMID:25741868|PMID:26955834|PMID:28492532 2606 Fgf10 fibroblast growth factor 10 gene DOID:0050331 LADD syndrome ISS RGD:10578 D RGD:13592920 20230209 MouseDO OMIM:149730 2606 Fgf10 fibroblast growth factor 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2606 Fgf10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:7240710 20130221 OMIM 2606 Fgf10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of PMID:15654336|PMID:16630169|PMID:17213838|PMID:25741868|PMID:28492532 2606 Fgf10 fibroblast growth factor 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2606 Fgf10 fibroblast growth factor 10 gene DOID:10486 intestinal atresia ISS RGD:10578 D RGD:13592920 20180518 MouseDO 2606 Fgf10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia ISO RGD:10578 D RGD:127284849|PMID:27322618 20210610 RGD protein:increased expression:epithelial stem/progenitor cells (mouse) 2606 Fgf10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10578 D RGD:127284849|PMID:27322618 20210610 RGD 2606 Fgf10 fibroblast growth factor 10 gene DOID:10787 premature menopause treatment ISO RGD:10578 D RGD:126928135|PMID:27679811 20210527 RGD 2606 Fgf10 fibroblast growth factor 10 gene DOID:10892 hypospadias IEP D RGD:2314151|PMID:19464577 20091103 RGD 2606 Fgf10 fibroblast growth factor 10 gene DOID:3151 skin squamous cell carcinoma ISO RGD:10578 D RGD:126928134|PMID:24582960 20210527 RGD Pten conditional KO mouse 2606 Fgf10 fibroblast growth factor 10 gene DOID:3178 skin papilloma ISO RGD:10578 D RGD:126928134|PMID:24582960 20210527 RGD protein:increased expression:skin (mouse) 2606 Fgf10 fibroblast growth factor 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 2606 Fgf10 fibroblast growth factor 10 gene DOID:630 genetic disease ISO RGD:734330 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2606 Fgf10 fibroblast growth factor 10 gene DOID:674 cleft palate ISO RGD:734330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2606 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment IDA D RGD:127284874|PMID:11952999 20210614 RGD 2606 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:126928132|PMID:10381813 20210527 RGD human protein in mouse model 2606 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:126928133|PMID:19736360 20210527 RGD human protein in mouse model with bacterial delivery system 2606 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:127284855|PMID:23676805 20210610 RGD human gene product in mouse model 2606 Fgf10 fibroblast growth factor 10 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:734330 D RGD:126928129|PMID:10417753 20210527 RGD human protein in rat model 2606 Fgf10 fibroblast growth factor 10 gene DOID:9000955 Acute Otitis Media ISO RGD:10578 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 2606 Fgf10 fibroblast growth factor 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 2606 Fgf10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:10578 D RGD:126928131|PMID:31431501 20210527 RGD mRNA:decreased expression:peritoneum (mouse) 2606 Fgf10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10578 D RGD:126928131|PMID:31431501 20210527 RGD miR-145 inhibitor 2606 Fgf10 fibroblast growth factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734330 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2606 Fgf10 fibroblast growth factor 10 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292665|PMID:18421211 20091103 RGD mRNA:increased expression:mammary gland 2606 Fgf10 fibroblast growth factor 10 gene DOID:9008206 LADD Syndrome 3 ISO RGD:734330 D RGD:7240710 20230125 OMIM 2606 Fgf10 fibroblast growth factor 10 gene DOID:9008206 LADD Syndrome 3 ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 PMID:15654336|PMID:16501574|PMID:16630169 2606 Fgf10 fibroblast growth factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:734330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438407 2606 Fgf10 fibroblast growth factor 10 gene DOID:9296 cleft lip ISO RGD:734330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2607 Fgf17 fibroblast growth factor 17 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733951 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 2607 Fgf17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:7240710 20140911 OMIM 2607 Fgf17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia PMID:21700882|PMID:23643382|PMID:6881209 2607 Fgf17 fibroblast growth factor 17 gene DOID:630 genetic disease ISO RGD:733951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2607 Fgf17 fibroblast growth factor 17 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 2608 Fgf18 fibroblast growth factor 18 gene DOID:10908 hydrocephalus ISO RGD:737083 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 2608 Fgf18 fibroblast growth factor 18 gene DOID:11612 polycystic ovary syndrome ISO RGD:737083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2608 Fgf18 fibroblast growth factor 18 gene DOID:1790 malignant mesothelioma ISO RGD:737083 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 2608 Fgf18 fibroblast growth factor 18 gene DOID:3910 lung adenocarcinoma ISO RGD:737083 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 2608 Fgf18 fibroblast growth factor 18 gene DOID:630 genetic disease ISO RGD:737083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2608 Fgf18 fibroblast growth factor 18 gene DOID:8398 osteoarthritis ISO RGD:737083 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 2608 Fgf18 fibroblast growth factor 18 gene DOID:9007661 Dwarfism ISO RGD:737083 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 2608 Fgf18 fibroblast growth factor 18 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303798 2609 Fgf2 fibroblast growth factor 2 gene DOID:0002116 pterygium ISO RGD:70822 D RGD:8554855|PMID:20198298 20140508 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:0080001 bone disease ISO RGD:70822 D RGD:2315858|PMID:17066631 20100114 RGD associated with Diabetes Mellitus, Experimental 2609 Fgf2 fibroblast growth factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:70822 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2609 Fgf2 fibroblast growth factor 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:70822 D RGD:13801017|PMID:27228974 20181026 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:70822 D RGD:2317763|PMID:8098714 20100421 RGD protein:increased expression:plasma 2609 Fgf2 fibroblast growth factor 2 gene DOID:10763 hypertension IEP D RGD:8655614|PMID:17562191 20140520 RGD associated with Aortic Coarctation 2609 Fgf2 fibroblast growth factor 2 gene DOID:10808 gastric ulcer treatment ISO RGD:70822 D RGD:8655642|PMID:9127818 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70822 D RGD:8547968|PMID:11078065 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:70822 D RGD:2290291|PMID:11908679 20080304 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 2609 Fgf2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:8655668|PMID:11437330 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:11664 nephrosclerosis ISO RGD:70822 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 2609 Fgf2 fibroblast growth factor 2 gene DOID:11714 gestational diabetes ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 2609 Fgf2 fibroblast growth factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21441931 2609 Fgf2 fibroblast growth factor 2 gene DOID:127 leiomyoma disease_progression ISO RGD:70822 D RGD:2290287|PMID:16139411 20080304 RGD protein:increased expression:uterus 2609 Fgf2 fibroblast growth factor 2 gene DOID:1380 endometrial cancer disease_progression ISO RGD:70822 D RGD:2298516|PMID:8685603 20080707 RGD mRNA, protein:increased expression:myometrium 2609 Fgf2 fibroblast growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:70822 D RGD:2315912|PMID:17955369 20100115 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:1596 depressive disorder ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 2609 Fgf2 fibroblast growth factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:70822 D RGD:8655549|PMID:14715109 20140514 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:70822 D RGD:8655587|PMID:12184408 20140516 RGD protein:increased expression:mammary gland fluid/secretion 2609 Fgf2 fibroblast growth factor 2 gene DOID:1727 retinal vein occlusion IEP D RGD:8655593|PMID:10342378 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:2317759|PMID:12670449 20100421 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:2317760|PMID:11562741 20100421 RGD mRNA:increased expression:pancreas 2609 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:2317765|PMID:11478488 20100422 RGD protein:increased expression:bile 2609 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer severity ISO RGD:70822 D RGD:2317762|PMID:9293890 20100421 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:1875 impotence ISO RGD:70822 D RGD:2315866|PMID:15758817 20100114 RGD associated with Diabetes Mellitus, Experimental 2609 Fgf2 fibroblast growth factor 2 gene DOID:2224 essential thrombocythemia ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 2609 Fgf2 fibroblast growth factor 2 gene DOID:2394 ovarian cancer disease_progression ISO RGD:70822 D RGD:2290288|PMID:14613644 20080304 RGD mRNA:increased expression:ovary 2609 Fgf2 fibroblast growth factor 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70822 D RGD:2290290|PMID:14522896 20080304 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:70822 D RGD:2298517|PMID:7549793 20080707 RGD protein:decreased expression:urinary bladder 2609 Fgf2 fibroblast growth factor 2 gene DOID:2723 dermatitis ISO RGD:70822 D RGD:8554852|PMID:16507899 20140508 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:2843 long QT syndrome ISO RGD:70822 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 2609 Fgf2 fibroblast growth factor 2 gene DOID:3070 high grade glioma ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10673511 2609 Fgf2 fibroblast growth factor 2 gene DOID:3213 demyelinating disease ISO RGD:70823 D RGD:8655565|PMID:11020217 20140515 RGD mRNA:increased expression:spinal cord 2609 Fgf2 fibroblast growth factor 2 gene DOID:3393 coronary artery disease ISO RGD:70822 D RGD:2315879|PMID:14585103 20100114 RGD associated with Diabetes Mellitus 2609 Fgf2 fibroblast growth factor 2 gene DOID:3454 brain infarction ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17524524 2609 Fgf2 fibroblast growth factor 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:70822 D RGD:8655550|PMID:8532703 20140514 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70822 D RGD:2317756|PMID:18704599 20100421 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:70822 D RGD:2317758|PMID:12717266 20100421 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:365 bladder disease IEP D RGD:2315846|PMID:17763394 20100113 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder 2609 Fgf2 fibroblast growth factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8952537 2609 Fgf2 fibroblast growth factor 2 gene DOID:4449 macular retinal edema ISO RGD:70822 D RGD:8655594|PMID:17505145 20140516 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor 2609 Fgf2 fibroblast growth factor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70822 D RGD:2290303|PMID:1718278 20080307 RGD protein:increased expression:serum 2609 Fgf2 fibroblast growth factor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:70822 D RGD:2317765|PMID:11478488 20100422 RGD protein:increased expression:bile 2609 Fgf2 fibroblast growth factor 2 gene DOID:5041 esophageal cancer ISO RGD:70822 D RGD:21409755|PMID:29660336 20200324 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:5082 liver cirrhosis ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17093919 2609 Fgf2 fibroblast growth factor 2 gene DOID:557 kidney disease ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8995747 2609 Fgf2 fibroblast growth factor 2 gene DOID:5773 oral submucous fibrosis ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 2609 Fgf2 fibroblast growth factor 2 gene DOID:630 genetic disease ISO RGD:70822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2609 Fgf2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension IMP D RGD:2315911|PMID:19197140 20100115 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:70822 D RGD:2315911|PMID:19197140 20100115 RGD mRNA:increased expression:lung 2609 Fgf2 fibroblast growth factor 2 gene DOID:674 cleft palate ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2609 Fgf2 fibroblast growth factor 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 2609 Fgf2 fibroblast growth factor 2 gene DOID:823 periapical periodontitis ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16631837 2609 Fgf2 fibroblast growth factor 2 gene DOID:83 cataract ISO RGD:70822 D RGD:8554856|PMID:19491954 20140508 RGD mRNA:increased expression:lens, epithelial cell 2609 Fgf2 fibroblast growth factor 2 gene DOID:8549 chronic ulcer of skin ISO RGD:70822 D RGD:2315843|PMID:19638336 20100113 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:8717 decubitus ulcer IEP D RGD:8655548|PMID:23740668 20140514 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy IEP D RGD:2315875|PMID:14975211 20100114 RGD associated with Diabetes Mellitus, Experimental 2609 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:2315844|PMID:18279437 20100113 RGD DNA:polymorphism:promotor:g.-553T>A(human) 2609 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:2315845|PMID:17997184 20100113 RGD DNA:polymorphism:intron:g.754C>G(human) 2609 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:2315885|PMID:9141532 20100114 RGD associated with Pregnancy in Diabetics 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70822 D RGD:2317765|PMID:11478488 20100422 RGD protein:increased expression:bile 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:40924652|PMID:24968269 20210118 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70823 D RGD:8554853|PMID:22407271 20140508 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000528 Coronary Disease ISO RGD:70822 D RGD:2315870|PMID:15451784 20100121 RGD associated with Diabetes Mellitus 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:70822 D RGD:8655598|PMID:15491965 20140516 RGD associated with Carcinoma, Ductal, Breast 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:70822 D RGD:2315876|PMID:14706681 20100114 RGD associated with Diabetes Mellitus, Insulin-Dependent 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000918 Disease Progression ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 2609 Fgf2 fibroblast growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21269288 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001044 Choroidal Neovascularization treatment IEP D RGD:8655568|PMID:10359334 20140515 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:70822 D RGD:8655667|PMID:14517397 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001472 Nasal Polyps ISO RGD:70822 D RGD:8655569|PMID:16720444 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001553 Spinal Cord Compression IEP D RGD:8655633|PMID:17244329 20140520 RGD protein:increased expression:spinal cord 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16116963 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries IEP D RGD:2292211|PMID:12533868 20080415 RGD protein:increased expression:skin 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11842932 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:2315863|PMID:16008728 20100114 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70822 D RGD:8655580|PMID:23603001 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70823 D RGD:8655582|PMID:21402405 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:8554857|PMID:9561364 20140508 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70822 D RGD:8655585|PMID:14975212 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70822 D RGD:8655591|PMID:8125754 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:8655640|PMID:9183688 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70822 D RGD:2315842|PMID:19279131 20100113 RGD mRNA:increased expression:kidney 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002514 Neointima IEP D RGD:8655643|PMID:8808969 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:70823 D RGD:8655567|PMID:9268592 20140515 RGD mRNA:increased expression:retina 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002589 Bone Fractures ISO RGD:70822 D RGD:2315907|PMID:8033826 20100115 RGD associated with Diabetes Mellitus, Experimental 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:70822 D RGD:8554852|PMID:16507899 20140508 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:8655647|PMID:8929896 20140520 RGD mRNA:increased expression:spinal cord 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:9831448|PMID:9814819 20161202 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10203697 2609 Fgf2 fibroblast growth factor 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:70822 D RGD:8655596|PMID:23303813 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9003566 Mesothelioma ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 2609 Fgf2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly IEP D RGD:2289364|PMID:18196276 20100115 RGD mRNA:increased expression:heart 2609 Fgf2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10491406 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation IEP D RGD:8655577|PMID:9840508 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation disease_progression IEP D RGD:8655595|PMID:20015768 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation treatment ISO RGD:70822 D RGD:8655592|PMID:12897558 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004237 Hyperoxic Lung Injury IMP D RGD:11567262|PMID:12626345 20161205 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:70822 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 2609 Fgf2 fibroblast growth factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70822 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005175 Ulcer IEP D RGD:8655658|PMID:21600881 20140520 RGD protein:increased expression, alternative forms:mucosa of stomach 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005372 Inflammation IEP D RGD:2315840|PMID:19474406 20100113 RGD associated with Diabetic retinopathy;protein:increased expression:retina 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21087489 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:70822 D RGD:8655590|PMID:10541235 20140516 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315880|PMID:12663474 20100114 RGD protein:increased expression:vitreous humor 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8655613|PMID:10792180 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9005749 Necrosis treatment ISO RGD:70822 D RGD:8655615|PMID:22924373 20140520 RGD associated with Ischemia 2609 Fgf2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries IEP D RGD:8655664|PMID:15273655 20140520 RGD protein:increased expression:lens 2609 Fgf2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:70823 D RGD:8655664|PMID:15273655 20140520 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12173832|PMID:14583313 2609 Fgf2 fibroblast growth factor 2 gene DOID:9007402 Gliosis ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21087489 2609 Fgf2 fibroblast growth factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:70822 D RGD:126928152|PMID:26617350 20210601 RGD human protein in mouse model 2609 Fgf2 fibroblast growth factor 2 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70822 D RGD:8554854|PMID:14664816 20140508 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9008763 Femoral Fractures IEP D RGD:11567258|PMID:11704499 20161205 RGD 2609 Fgf2 fibroblast growth factor 2 gene DOID:9008861 Wound Infection ISO RGD:70822 D RGD:2315863|PMID:16008728 20100114 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2609 Fgf2 fibroblast growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 2609 Fgf2 fibroblast growth factor 2 gene DOID:9296 cleft lip ISO RGD:70822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2609 Fgf2 fibroblast growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70822 D RGD:2315844|PMID:18279437 20100113 RGD protein:increased expression:serum 2609 Fgf2 fibroblast growth factor 2 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70822 D RGD:8655597|PMID:9613386 20140516 RGD associated with Retinal Detachment 2609 Fgf2 fibroblast growth factor 2 gene DOID:9741 biliary tract disease ISO RGD:70822 D RGD:2317765|PMID:11478488 20100422 RGD protein:increased expression:bile 2609 Fgf2 fibroblast growth factor 2 gene DOID:9743 diabetic neuropathy ISO RGD:70822 D RGD:2315860|PMID:16644707 20100114 RGD associated with Diabetes Mellitus, Experimental 2609 Fgf2 fibroblast growth factor 2 gene DOID:9810 polyarteritis nodosa ISO RGD:70822 D RGD:8655581|PMID:15965421 20140516 RGD 2610 Fgf9 fibroblast growth factor 9 gene DOID:0050794 multiple synostoses syndrome ISS RGD:735806 D RGD:13592920 20180518 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 2610 Fgf9 fibroblast growth factor 9 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735806 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 2610 Fgf9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:7240710 20130221 OMIM 2610 Fgf9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 3 PMID:19589401|PMID:25741868|PMID:28492532|PMID:28730625|PMID:36980996 2610 Fgf9 fibroblast growth factor 9 gene DOID:1324 lung cancer ISS RGD:10579 D RGD:13592920 20180518 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 2610 Fgf9 fibroblast growth factor 9 gene DOID:1790 malignant mesothelioma ISO RGD:735806 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 2610 Fgf9 fibroblast growth factor 9 gene DOID:263 kidney cancer ameliorates ISO RGD:735806 D RGD:152600905|PMID:26183774 20220526 RGD human gene in mouse model 2610 Fgf9 fibroblast growth factor 9 gene DOID:299 adenocarcinoma ISO RGD:735806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 2610 Fgf9 fibroblast growth factor 9 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735806 D RGD:152180844|PMID:28440022 20220520 RGD mRNA:decreased expression:lung (human) 2610 Fgf9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19358281 2610 Fgf9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:152177912|PMID:31884893 20220520 RGD mRNA:increased expression:lung (human) 2610 Fgf9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735806 D RGD:9068941 20220519 RGD mRNA:increased expression:lung (human) PMID:24239165|REF_RGD_ID:152177524 2610 Fgf9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 2610 Fgf9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 2610 Fgf9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735806 D RGD:152975620|PMID:20464547 20220526 RGD protein:increased expression:lung (human) 2610 Fgf9 fibroblast growth factor 9 gene DOID:4769 pleuropulmonary blastoma ISS RGD:10579 D RGD:13592920 20180518 MouseDO OMIM:601200 2610 Fgf9 fibroblast growth factor 9 gene DOID:630 genetic disease ISO RGD:735806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2610 Fgf9 fibroblast growth factor 9 gene DOID:674 cleft palate ISO RGD:735806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2610 Fgf9 fibroblast growth factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:735806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 2610 Fgf9 fibroblast growth factor 9 gene DOID:9296 cleft lip ISO RGD:735806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736865 D RGD:155791445|PMID:29722558 20221216 RGD protein:increased expression:lung (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050331 LADD syndrome ISO RGD:736865 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050331 LADD syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16838304|PMID:17525745|PMID:18056630|PMID:18414213|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:31502745|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17449949 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:7240710 20130425 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:17264867|PMID:17525745|PMID:18247426|PMID:18552176|PMID:19610084|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:736865 D RGD:155663557|PMID:31255687 20221128 RGD human cell line in a mouse model 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0060321 umbilical hernia ISO RGD:10581 D RGD:11567270|PMID:21238647 20161205 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080016 spina bifida ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:736865 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism PMID:9002682 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736865 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:26619011 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080216 duodenal atresia ISO RGD:10581 D RGD:12801491|PMID:15185216 20170404 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:12801485|PMID:10633130 20170404 RGD DNA:missense mutations:cds:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:7240710 20130221 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis PMID:10076886|PMID:10076887|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15316116|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0090020 split hand-foot malformation ISO RGD:736865 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:12801470|PMID:7874170 20170403 RGD DNA:missense mutation:cds:p.R344G (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:7240710 20130221 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11556600|PMID:11781872|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:19066959|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27481450|PMID:28492532|PMID:31145570|PMID:7581378|PMID:7655462|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8528214|PMID:8644708|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9677057|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:736865 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:34652575 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer IDA D RGD:2289859|PMID:9537256 20080214 RGD mRNA:splice variant::shift from Fgfr2IIIb to Fgfr2IIIc in malignancy, restoration of Fgfr2IIIb slows growth 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:2289086|PMID:9285567 20080121 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736865 D RGD:2289728|PMID:12111699 20080208 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer no_association ISO RGD:736865 D RGD:2289845|PMID:11069376 20080214 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10486 intestinal atresia ISS RGD:10581 D RGD:13592920 20180518 MouseDO 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10533 viral pneumonia ISO RGD:10581 D RGD:127284849|PMID:27322618 20210610 RGD protein:increased expression:epithelial stem/progenitor cells (mouse) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:7240710 20220209 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10394936|PMID:10851026|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25759927|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7655462|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9700203|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer severity ISO RGD:736865 D RGD:12801419|PMID:9816310 20170329 RGD protein:increased expression:stomach (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10584 retinitis pigmentosa treatment IDA D RGD:12801430|PMID:11319911 20170330 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1059 intellectual disability ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10762 portal hypertension IEP D RGD:155882599|PMID:8644008 20230131 RGD mRNA, protein:decreased expression:esophagus mucosa (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10825 essential hypertension sexual_dimorphism IEP D RGD:155791444|PMID:31626954 20221216 RGD mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10892 hypospadias IEP D RGD:2314151|PMID:19464577 20170331 RGD mRNA:decreased expression:male genital tubercle (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:2289664|PMID:16969861 20080205 RGD associated with Acrocephalosyndactylia (MeSH:D000168) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:2301193|PMID:10602477 20080930 RGD DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1107 esophageal carcinoma ISO RGD:736865 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:25157968|PMID:26619011 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:11934 head and neck cancer ISO RGD:736865 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:11390973|PMID:12124745|PMID:15389579|PMID:16969861|PMID:17251833|PMID:20489451|PMID:23786770|PMID:24656465|PMID:25741868|PMID:25867380|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:8651276|PMID:9677057|PMID:9700203 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9002682|PMID:9502772|PMID:17694057|PMID:19186770 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:12801413|PMID:9677057 20170329 RGD DNA:missense mutations:cds:p.S252W, p.P253R (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:12801475|PMID:23532954 20170403 RGD DNA:missense mutation:cds:p.A172F (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:7240710 20130221 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8547743|PMID:7668257 20140220 RGD DNA:mutations:cds: 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28166811|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:18552176|PMID:18618990|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:27683237|PMID:28492532|PMID:28611549|PMID:30919572|PMID:31145570|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia severity ISO RGD:736865 D RGD:12801488|PMID:10735635 20170404 RGD DNA:missense mutation:cds:p.P253R (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia treatment ISO RGD:10581 D RGD:12801474|PMID:17694057 20170403 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:736865 D RGD:155791445|PMID:29722558 20221216 RGD protein:increased expression:lung (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:155663661|PMID:7795583 20221130 RGD DNA:SNPs, missense mutation:splice junction, CDS:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:155782906|PMID:33074973 20221208 RGD DNA:mutations:CDS:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:7240710 20130221 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:10874645|PMID:10945669|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:11807866|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15523615|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:17576681|PMID:17803937|PMID:18541976|PMID:18552176|PMID:18618990|PMID:19066959|PMID:20133659|PMID:20301628|PMID:20503384|PMID:20643727|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25361936|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28492532|PMID:31145570|PMID:31754721|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9531645|PMID:9536098|PMID:9586546|PMID:9605588|PMID:9700203|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:7240710 20180725 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17264867|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9585583|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGd:736865 D RGD:2289657|PMID:17529967 20080204 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGd:736865 D RGD:2289658|PMID:17529973 20080204 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer exacerbates ISO RGD:10581 D RGD:155663674|PMID:23185502 20221205 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:10581 D RGD:155663670|PMID:16687131 20221202 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736865 D RGD:2289084|PMID:17306351 20080121 RGD cervical squamous cell carcinoma 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:736865 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1936 atherosclerosis treatment ISO RGD:10581 D RGD:155791446|PMID:24224032 20221216 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155882598|PMID:22432030 20230131 RGD associated with Experimental Diabetes Mellitus 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:227 ankylosis ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9152842 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:12801466|PMID:11711827 20170403 RGD DNA:missense mutations:cds:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:12801470|PMID:7874170 20170403 RGD DNA:missense mutations, silent mutation:cds:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:12801472|PMID:11380921 20170403 RGD DNA:missense mutations:cds:p.Y281C, p.G289P (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:155663659|PMID:7987400 20221130 RGD DNA:missense mutations:CDS:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:7240710 20130221 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome PMID:10067911|PMID:10394936|PMID:10541159|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11870239|PMID:12124745|PMID:12186468|PMID:12357470|PMID:12477974|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15793702|PMID:15883293|PMID:15975938|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:1697263|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27683237|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9048930|PMID:9152842|PMID:9169049|PMID:9385368|PMID:9462761|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9677057|PMID:9700203|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:10581 D RGD:12801469|PMID:14499350 20170403 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8957519|PMID:9605588|PMID:16465081 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:12801484|PMID:8946174 20120328 RGD DNA:missense mutations:cds:p.Y105C, p.G384R (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:6480630|PMID:19624690 20120328 RGD DNA:substitutions:multiple (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8547554|PMID:19627528 20170330 RGD human cells in a rat model 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575031|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15863034|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18391498|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:29109840|PMID:31145570|PMID:4078868|PMID:7558045|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:736865 D RGD:2301194|PMID:9018118 20080930 RGD mRNA, protein:decreased expression:urinary bladder 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2871 endometrial carcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis ISO RGD:736865 D RGD:2301191|PMID:17482184 20080930 RGD mRNA:increased expression:ovary, epithelial cell 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis no_association ISO RGD:736865 D RGD:2301190|PMID:18285324 20080930 RGD DNA:SNPs 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:363 uterine cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:37 skin disease ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:23786770|PMID:25741868|PMID:9150725 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:4441 dysgerminoma ISO RGD:736865 D RGD:2289660|PMID:17243131 20080205 RGD associated with Acrocephalosyndactylia (MeSH:D000168) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:5517 stomach carcinoma treatment ISO RGD:736865 D RGD:155663557|PMID:31255687 20221128 RGD human cell line in a mouse model 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:10581 D RGD:155663664|PMID:19358330 20221201 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:630 genetic disease ISO RGD:736865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10067911|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:11173845|PMID:11343323|PMID:11781872|PMID:12884424|PMID:1519658|PMID:15793702|PMID:15883293|PMID:16061565|PMID:16418739|PMID:16501574|PMID:16740155|PMID:17693524|PMID:18726952|PMID:19610084|PMID:22387015|PMID:24127277|PMID:24486773|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25741868|PMID:26362256|PMID:26446305|PMID:26573129|PMID:27028366|PMID:27240702|PMID:28492532|PMID:28901406|PMID:4078868|PMID:7573032|PMID:7655462|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8528214|PMID:8755573|PMID:9585583 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:674 cleft palate ISO RGD:736865 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:17963255|PMID:29526646 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736865 D RGD:38501096|PMID:30952770 20200818 RGD associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:7843 female breast carcinoma treatment ISO RGD:736865 D RGD:155663557|PMID:31255687 20221128 RGD human cell line in a mouse model 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:8632 Kaposi's sarcoma ISO RGD:736865 D RGD:155663668|PMID:18804962 20221202 RGD mRNA:increased expression:zone of skin (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:10581 D RGD:2301192|PMID:14695195 20080930 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736865 D RGD:7394846|PMID:20640597 20131105 RGD associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000146 Plaque, Atherosclerotic exacerbates ISO RGD:736865 D RGD:155663561|PMID:24075588 20221129 RGD mRNA, protein:decreased expression:carotid artery segment (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173787|PMID:21936542 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:12801417|PMID:11325814 20170329 RGD DNA:missense mutation, snp:cds, intron:p.S267P, IVS-2A>G (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Stomach Neoplasms PMID:11781872|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16838304|PMID:24127277|PMID:25741868|PMID:28492532|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8946174|PMID:8957519 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000509 Epstein-Barr Virus Infections no_association ISO RGD:736865 D RGD:38500242|PMID:29446487 20200812 RGD DNA:missense mutation:cds:(rs755793) (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:7240710 20130221 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9169049|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:12801468|PMID:22387015 20170403 RGD DNA:missense mutations:cds:p.M391R, p.Y381D (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:7240710 20140903 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BENT BONE DYSPLASIA SYNDROME 1 PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22387015|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26446305|PMID:26467025|PMID:26573129|PMID:26619011|PMID:27240702|PMID:28492532|PMID:31145570|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001347 Leg Ulcer ISO RGD:736865 D RGD:155663562|PMID:15854058 20221129 RGD associated with chronic venous insufficiency;DNA:SNP:3' utr: (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001471 Anorectal Malformations IEP D RGD:11052641|PMID:26514922 20170331 RGD mRNA:decreased expression:rectum (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001519 Acneiform Eruptions ISO RGD:736865 D RGD:12801492|PMID:18410418 20170404 RGD DNA:missense mutation:cds:p.S252W (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001553 Spinal Cord Compression IEP D RGD:155782905|PMID:28981091 20221208 RGD protein:increased expression:spinal cord (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001946 Skin Abnormalities ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736865 D RGD:2289733|PMID:11593393 20080208 RGD epithelial ovarian cancer (OMIM:604370) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9003133 Hypertelorism ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11781872|PMID:12884424|PMID:20643727|PMID:23348274|PMID:23754559|PMID:25271085|PMID:25741868|PMID:27228464|PMID:27683237|PMID:28492532|PMID:7874170 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736865 D RGD:2289084|PMID:17306351 20080121 RGD cervical squamous cell carcinoma 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9003730 Chemical Burns ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736865 D RGD:2289862|PMID:17525745 20080215 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004309 Congenital Aural Atresia ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital PMID:23786770|PMID:25741868|PMID:9150725 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10581 D RGD:155663564|PMID:16549517 20221129 RGD associated with hypertension 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004849 LADD Syndrome 1 ISO RGD:736865 D RGD:7240710 20230111 OMIM 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17311802 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10581 D RGD:155663667|PMID:20591940 20221202 RGD protein:increased phosphorylation:kidney (mouse) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10581 D RGD:155782904|PMID:29344510 20221208 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates IMP D RGD:155882537|PMID:22688984 20230126 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:10581 D RGD:155782882|PMID:32523960 20221207 RGD 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006287 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia, anetoderma, and optic atrophy PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:736865 D RGD:155663563|PMID:35600952 20221129 RGD mRNA:increased expression:lung (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:2301189|PMID:18552176 20080930 RGD DNA:mutations 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18247426|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:736865 D RGD:2301188|PMID:18785201 20080930 RGD DNA:SNP 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008082 Plagiocephaly, Nonsynostotic ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9152842 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10851026|PMID:11781872|PMID:15316116|PMID:15523615|PMID:16158432|PMID:16418739|PMID:16838304|PMID:17264867|PMID:17803937|PMID:18541976|PMID:20133659|PMID:22558232|PMID:24127277|PMID:24728327|PMID:25271085|PMID:25425289|PMID:25741868|PMID:26325558|PMID:26429889|PMID:26467025|PMID:28492532|PMID:7607643|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8755573|PMID:8957519 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736865 D RGD:12801473|PMID:27481450 20170403 RGD associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008498 Tracheoesophageal Fistula IEP D RGD:12801427|PMID:15065023 20170330 RGD associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10581 D RGD:11251832|PMID:21538817 20161205 RGD DNA:missense mutation:exon:p.S250W (mouse) 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631169|PMID:16465081|PMID:18082115 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17529967|PMID:17529973|PMID:18438407 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9256 colorectal cancer ISO RGD:736865 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9296 cleft lip ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 2611 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9923 developmental coordination disorder ISO RGD:736865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736644 D RGD:150520164|PMID:20127014 20211029 RGD DNA:SNP:exon 9: p.G388R (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:736644 D RGD:150429969|PMID:15448004 20211007 RGD DNA:SNP:exon 9: 288G>A, p.G288R (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:736644 D RGD:150520156|PMID:26432329 20211026 RGD human cells in mouse model 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:150520025|PMID:21567388 20211021 RGD protein:increased expression:stomach, cytoplasm (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:150520039|PMID:20844967 20211022 RGD DNA:SNP:exon 9: p.G388R (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer treatment ISO RGD:736644 D RGD:150520068|PMID:32973082 20211026 RGD 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:219 colon cancer treatment ISO RGD:736644 D RGD:150520062|PMID:17599042 20211026 RGD human cells in mouse model 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3247 rhabdomyosarcoma ISO RGD:736644 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19809159|PMID:24124571 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:736644 D RGD:150520041|PMID:25989802 20211022 RGD 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:736644 D RGD:150429984|PMID:29402970 20211008 RGD human cells in mouse model 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736644 D RGD:150429970|PMID:26045670 20211008 RGD mRNA, protein:increased expression:lung (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736644 D RGD:150429982|PMID:23524567 20211008 RGD DNA:SNP:exon 9: p.G3888R (rs351855) (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:150429976|PMID:16061909 20211008 RGD DNA:SNP:exon 9: p.G288R (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:150429984|PMID:29402970 20211008 RGD human cells in mouse model 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:736644 D RGD:150429981|PMID:19296538 20220520 RGD DNA:SNP:exon 9: p.G388R (rs351855)(human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:736644 D RGD:11057080|PMID:25860955 20211022 RGD associated with hepatocellular carcinoma; DNA:SNP:cds: p.G388R (rs351855) (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:736644 D RGD:150520023|PMID:17084840 20211021 RGD DNA:SNP:exon 9: p.G388R (human) 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:630 genetic disease ISO RGD:736644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736644 D RGD:150520166|PMID:32677805 20211029 RGD 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:8567 Hodgkin's lymphoma ISO RGD:736644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15448004 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736644 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Cancer progression and tumor cell motility PMID:11830541|PMID:25741868|PMID:26675719|PMID:33116287 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736644 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736644 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736644 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:19946327 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9256 colorectal cancer ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:colorectum (human) PMID:24503538|REF_RGD_ID:150520155 2612 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:736644 D RGD:150520063|PMID:26535066 20211026 RGD protein:increased expression:nasopharynx (human) 2613 Fgg fibrinogen gamma chain gene DOID:0060903 thrombosis ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:15795540|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 2613 Fgg fibrinogen gamma chain gene DOID:0112313 brain small vessel disease ISO RGD:731481 D RGD:5688761|PMID:17951283 20120306 RGD DNA:polymorphisms, haplotypes 2613 Fgg fibrinogen gamma chain gene DOID:1247 blood coagulation disease ISO RGD:731481 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrinogen Milano XII, digenic PMID:11435303|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 2613 Fgg fibrinogen gamma chain gene DOID:1588 thrombocytopenia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10688828|PMID:15795540|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 2613 Fgg fibrinogen gamma chain gene DOID:2213 hemorrhagic disease ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:15795540|PMID:21228398|PMID:23560673|PMID:24033266|PMID:24556703|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:33477601 2613 Fgg fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:11352676|PMID:15284111 20160714 RGD DNA:nonsense mutation:exon:p.R134X (human) 2613 Fgg fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:7240710 20151216 OMIM 2613 Fgg fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:737710|PMID:11001903 19990101 RGD DNA:snp:intron:IVS3+5G>A (human) 2613 Fgg fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10688828|PMID:10911375|PMID:11001902|PMID:11001903|PMID:11435303|PMID:1249208|PMID:1471077|PMID:15795540|PMID:16144795|PMID:1733971|PMID:17854317|PMID:21228398|PMID:21725578|PMID:23560673|PMID:24033266|PMID:24556703|PMID:2512677|PMID:25320241|PMID:25741868|PMID:26105150|PMID:2617471|PMID:28211264|PMID:28492532|PMID:29240685|PMID:29351094|PMID:2971042|PMID:2976995|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31479941|PMID:3337908|PMID:33477601|PMID:34355501|PMID:3563970|PMID:4002201|PMID:4427684|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933|PMID:8470043 2613 Fgg fibrinogen gamma chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:10586 D RGD:30310231|PMID:23919993 20200624 RGD protein:increased expression:lung (mouse) 2613 Fgg fibrinogen gamma chain gene DOID:4989 pancreatitis IEP D RGD:5688770|PMID:19954227 20120306 RGD protein:increased expression:pancreas, rough endoplasmic reticulum 2613 Fgg fibrinogen gamma chain gene DOID:630 genetic disease ISO RGD:731481 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10613648|PMID:18832913|PMID:3160702|PMID:7740487 2613 Fgg fibrinogen gamma chain gene DOID:9000058 Keloid ISO RGD:731481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 2613 Fgg fibrinogen gamma chain gene DOID:9000217 Stomach Neoplasms ISO RGD:731481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 2613 Fgg fibrinogen gamma chain gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731481 D RGD:11352673|PMID:17038160 20160714 RGD 2613 Fgg fibrinogen gamma chain gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1599810|PMID:17054587 20070215 RGD mRNA:increased expression 2613 Fgg fibrinogen gamma chain gene DOID:9003121 Thromboembolism ISO RGD:731481 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 2613 Fgg fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:11352672|PMID:25551304 20160714 RGD DNA:deletion:intron:IVS9+1delG (human) 2613 Fgg fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:11352691|PMID:24482809 20160715 RGD DNA:missense mutation:exon:p.N308T (c.1001A>C) (human) 2613 Fgg fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:7240710 20171011 OMIM 2613 Fgg fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3 PMID:10911375|PMID:11435303|PMID:1733971|PMID:19923982|PMID:19949684|PMID:22836217|PMID:2328317|PMID:2496144|PMID:2512677|PMID:25741868|PMID:2617471|PMID:28492532|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:3175983|PMID:3337908|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352674|PMID:12198657 20160714 RGD DNA:missense mutation:exon:p.R375W (human) 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352675|PMID:16959688 20160714 RGD DNA:missense mutation:exon:p.A341D (human 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352678|PMID:23492915 20160714 RGD DNA:missense mutation:exon:p.T277R (7482G>C) (human) 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352680|PMID:24914742 20160714 RGD DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human) 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352681|PMID:16607083 20160714 RGD DNA:missense mutation: :p.S313N (7590G>A) (human) 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352682|PMID:26039544 20160714 RGD DNA:missense mutations: :p.D316N, p.G366S (human) 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:11352694|PMID:23560673 20160715 RGD DNA:frameshift mutation: :c.554delA (human) 2613 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia PMID:10911375|PMID:11344575|PMID:15632207|PMID:1733971|PMID:2512677|PMID:25741868|PMID:2617471|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:3337908|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 2613 Fgg fibrinogen gamma chain gene DOID:9005372 Inflammation treatment IEP D RGD:11352805|PMID:11490095 20160720 RGD 2613 Fgg fibrinogen gamma chain gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7175292|PMID:21685370 20121205 RGD mRNA,protein:increased expression:kidney 2613 Fgg fibrinogen gamma chain gene DOID:9007096 Stroke susceptibility ISO RGD:731481 D RGD:5688760|PMID:18278190 20120306 RGD DNA:SNP:promoter:902A>G (rs1800792) (human) 2613 Fgg fibrinogen gamma chain gene DOID:9008217 Hemorrhage ISO RGD:731481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 2613 Fgg fibrinogen gamma chain gene DOID:9008691 Liver Injury IEP D RGD:11352697|PMID:26314240 20160715 RGD protein:decreased expression:serum 2613 Fgg fibrinogen gamma chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:731481 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased activity:plasma (human) 2613 Fgg fibrinogen gamma chain gene DOID:9477 pulmonary embolism IEP D RGD:5688769|PMID:22014850 20120306 RGD protein:increased expression:blood microparticle 2613 Fgg fibrinogen gamma chain gene DOID:9538 multiple myeloma treatment ISO RGD:731481 D RGD:11040544|PMID:22348216 20160714 RGD 2613 Fgg fibrinogen gamma chain gene DOID:9970 obesity IEP D RGD:11352709|PMID:22134356 20160715 RGD protein:decreased expression:plasma 2614 Fh fumarate hydratase gene DOID:0080600 COVID-19 ISO RGD:735599 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2614 Fh fumarate hydratase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:735599 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 2614 Fh fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:7240710 20130221 OMIM 2614 Fh fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16151915|PMID:16199547|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16876016|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18503824|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19939761|PMID:19967458|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22382802|PMID:22595425|PMID:22703879|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24441663|PMID:24728327|PMID:25004247|PMID:25637381|PMID:25741868|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26113603|PMID:26173633|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26900816|PMID:27037871|PMID:27541980|PMID:28196407|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29641532|PMID:29893455|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33125697|PMID:33166576|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34643235|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293 2614 Fh fumarate hydratase gene DOID:10907 microcephaly ISO RGD:735599 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30548481 2614 Fh fumarate hydratase gene DOID:13223 uterine fibroid ISO RGD:735599 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:11865300|PMID:21398687|PMID:25741868|PMID:28492532 2614 Fh fumarate hydratase gene DOID:1540 parathyroid carcinoma ISO RGD:735599 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2614 Fh fumarate hydratase gene DOID:1612 breast cancer ISO RGD:735599 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 2614 Fh fumarate hydratase gene DOID:2394 ovarian cancer ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30548481|PMID:33397043 2614 Fh fumarate hydratase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735599 D RGD:150340558|PMID:25576295 20210814 RGD DNA:SNP: (rs1414493) (human) 2614 Fh fumarate hydratase gene DOID:4450 renal cell carcinoma ISO RGD:735599 D RGD:6907135|PMID:17211469 20121030 RGD 2614 Fh fumarate hydratase gene DOID:630 genetic disease ISO RGD:735599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11865300|PMID:21398687|PMID:28492532|PMID:33063682 2614 Fh fumarate hydratase gene DOID:684 hepatocellular carcinoma ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10896297|PMID:15221078|PMID:16876016|PMID:17182618|PMID:18313410|PMID:19151755|PMID:20301679|PMID:21445611|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28747166 2614 Fh fumarate hydratase gene DOID:687 hepatoblastoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 2614 Fh fumarate hydratase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735599 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2614 Fh fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:16403393|PMID:28289076|PMID:30013182 2614 Fh fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:1598939|PMID:15937070 20070104 RGD DNA:mutations:multiple (human) 2614 Fh fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:7240710 20160113 OMIM 2614 Fh fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16881969|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18414213|PMID:19151755|PMID:19183174|PMID:19939761|PMID:19967458|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26296701|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26900816|PMID:26945337|PMID:27037871|PMID:27541980|PMID:28300276|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32012241|PMID:32154112|PMID:32782288|PMID:32999401|PMID:33166576|PMID:33439686|PMID:33442023|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35806449|PMID:35874919|PMID:9300800|PMID:9635293 2614 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:8007976|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 2614 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 2614 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 2614 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34994643|PMID:35216667|PMID:35874919|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 2614 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35874919|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 2614 Fh fumarate hydratase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735599 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:0060022 CD40 ligand deficiency ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:0060253 scapuloperoneal myopathy ISS RGD:1342641 D RGD:13592920 20180518 MouseDO OMIM:181430 | OMIM:300695 2615 Fhl1 four and a half LIM domains 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342641 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2615 Fhl1 four and a half LIM domains 1 gene DOID:0060825 Christianson syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:7240710 20130221 OMIM 2615 Fhl1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:16199547|PMID:17576681|PMID:18179888|PMID:18179901|PMID:18274675|PMID:19171836|PMID:19181672|PMID:19377476|PMID:19687455|PMID:19716112|PMID:20186852|PMID:20571991|PMID:20633900|PMID:21520333|PMID:21629301|PMID:21683594|PMID:22094483|PMID:22523091|PMID:22923418|PMID:23169582|PMID:23500067|PMID:24114807|PMID:24634512|PMID:25191266|PMID:25246303|PMID:25274776|PMID:25741868|PMID:26265627|PMID:26467025|PMID:26627873|PMID:26857240|PMID:27409453|PMID:27443559|PMID:27532257|PMID:27841901|PMID:28444561|PMID:28492532|PMID:28611399|PMID:28694073|PMID:29434030|PMID:29926425|PMID:31204143|PMID:31273321|PMID:31568572|PMID:31803991|PMID:32001145|PMID:32102154|PMID:32587768|PMID:32815737|PMID:7722535|PMID:9536098 2615 Fhl1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:7240710 20130221 OMIM 2615 Fhl1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:18274675|PMID:19171836|PMID:19181672|PMID:19716112|PMID:20633900|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7722535 2615 Fhl1 four and a half LIM domains 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25246303|PMID:26857240|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:7240710 20130221 OMIM 2615 Fhl1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:20571991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 2615 Fhl1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:19716112|PMID:20571991|PMID:21520333|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 2615 Fhl1 four and a half LIM domains 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1342641 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:7240710 20200401 OMIM 2615 Fhl1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome PMID:11102932|PMID:19716112|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26933038|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:1580798|PMID:11583900 20061109 RGD 2615 Fhl1 four and a half LIM domains 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2615 Fhl1 four and a half LIM domains 1 gene DOID:12849 autistic disorder ISO RGD:1342641 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2615 Fhl1 four and a half LIM domains 1 gene DOID:630 genetic disease ISO RGD:1342641 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:7240710 20130221 OMIM 2615 Fhl1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:21629301|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 2615 Fhl1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:19716112|PMID:21629301|PMID:24634512|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 2615 Fhl1 four and a half LIM domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2615 Fhl1 four and a half LIM domains 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 2615 Fhl1 four and a half LIM domains 1 gene DOID:9005532 Muscle Weakness ISO RGD:1342641 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 2615 Fhl1 four and a half LIM domains 1 gene DOID:9775 diastolic heart failure ISO RGD:1342641 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 2617 Fkbp1a FKBP prolyl isomerase 1A gene DOID:0050476 Barth syndrome ISS RGD:737540 D RGD:13592920 20180518 MouseDO OMIM:302060 2617 Fkbp1a FKBP prolyl isomerase 1A gene DOID:0080855 Parkinsonism IEP D RGD:2302074|PMID:17877381 20081118 RGD mRNA, protein:increased expression:brain 2617 Fkbp1a FKBP prolyl isomerase 1A gene DOID:1682 congenital heart disease ISO RGD:737540 D RGD:1580388|PMID:9461216 19990101 RGD 2617 Fkbp1a FKBP prolyl isomerase 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737539 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2617 Fkbp1a FKBP prolyl isomerase 1A gene DOID:630 genetic disease ISO RGD:737539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2617 Fkbp1a FKBP prolyl isomerase 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737539 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2619 Foxg1 forkhead box G1 gene DOID:0060041 autism spectrum disorder ISO RGD:737514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 2619 Foxg1 forkhead box G1 gene DOID:0070297 primary microcephaly ISO RGD:737514 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 2619 Foxg1 forkhead box G1 gene DOID:1059 intellectual disability ISO RGD:737514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18627055 2619 Foxg1 forkhead box G1 gene DOID:1059 intellectual disability ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:18414213|PMID:25741868|PMID:28492532|PMID:28661489|PMID:28708303 2619 Foxg1 forkhead box G1 gene DOID:10907 microcephaly ISO RGD:737514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18627055 2619 Foxg1 forkhead box G1 gene DOID:10907 microcephaly ISO RGD:737514 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 2619 Foxg1 forkhead box G1 gene DOID:1206 Rett syndrome ISO RGD:737514 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 2619 Foxg1 forkhead box G1 gene DOID:1206 Rett syndrome ISS RGD:737514 D RGD:13592920 20180518 MouseDO OMIM:312750 | OMIM:613454 2619 Foxg1 forkhead box G1 gene DOID:1826 epilepsy ISO RGD:737514 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2619 Foxg1 forkhead box G1 gene DOID:630 genetic disease ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1356269|PMID:18414213|PMID:19564653|PMID:19578037|PMID:19806373|PMID:21280142|PMID:21441262|PMID:21488007|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26344814|PMID:26467025|PMID:26633542|PMID:26845707|PMID:27029630|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30533527|PMID:30792901|PMID:8332212 2619 Foxg1 forkhead box G1 gene DOID:863 nervous system disease ISO RGD:737514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 2619 Foxg1 forkhead box G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19806373|PMID:21441262|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25741868|PMID:26344814|PMID:28492532|PMID:28661489|PMID:28851325|PMID:30533527 2619 Foxg1 forkhead box G1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737514 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2619 Foxg1 forkhead box G1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737514 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 2619 Foxg1 forkhead box G1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737514 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2619 Foxg1 forkhead box G1 gene DOID:9006534 Nervous System Malformations ISO RGD:737514 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20734096|PMID:22129046|PMID:22739344|PMID:22968132|PMID:25741868|PMID:28492532|PMID:28661489 2619 Foxg1 forkhead box G1 gene DOID:9008086 Developmental Disabilities ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362 2619 Foxg1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:7240710 20130221 OMIM 2619 Foxg1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:18414213|PMID:18571142|PMID:19564653|PMID:19578037|PMID:19623215|PMID:19806373|PMID:20734096|PMID:21270142|PMID:21280142|PMID:21441262|PMID:21488007|PMID:21694734|PMID:22091895|PMID:22129046|PMID:22190898|PMID:22258524|PMID:22739344|PMID:22968132|PMID:23757202|PMID:23838309|PMID:24412290|PMID:24731847|PMID:24836831|PMID:24901346|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25914188|PMID:26344814|PMID:26364767|PMID:26467025|PMID:26633542|PMID:26938784|PMID:26993267|PMID:27001178|PMID:27029630|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28661489|PMID:28708303|PMID:28781028|PMID:28851325|PMID:28947817|PMID:29389947|PMID:29611406|PMID:29655203|PMID:29852413|PMID:30525188|PMID:30533527|PMID:30792901|PMID:30842224|PMID:30866059|PMID:31780880|PMID:32581362|PMID:34284163|PMID:34837432 2619 Foxg1 forkhead box G1 gene DOID:9250 acrocallosal syndrome ISO RGD:737514 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18627055 2620 Flg filaggrin gene DOID:0070338 cerebellar hypoplasia ISO RGD:737239 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 2620 Flg filaggrin gene DOID:0110098 atopic dermatitis 2 ISO RGD:737239 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2620 Flg filaggrin gene DOID:0110098 atopic dermatitis 2 ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:17291859|PMID:17417636|PMID:17657246|PMID:18325573|PMID:18396323|PMID:19183181|PMID:19501237|PMID:19538357|PMID:19733298|PMID:19785597|PMID:19839980|PMID:19874431|PMID:20426775|PMID:20573035|PMID:20674819|PMID:21039602|PMID:21365004|PMID:21377035|PMID:21514438|PMID:21564328|PMID:21777221|PMID:22403702|PMID:22407025|PMID:22951058|PMID:22995991|PMID:23039796|PMID:23166590|PMID:23301728|PMID:23343419|PMID:23352160|PMID:23947670|PMID:23993222|PMID:24033266|PMID:24077912|PMID:24251354|PMID:24565632|PMID:24608987|PMID:24920311|PMID:25314673|PMID:25333069|PMID:25741868|PMID:26451970|PMID:27279822|PMID:27363669|PMID:27462351|PMID:28143684|PMID:28164424|PMID:28213896|PMID:28730607|PMID:29054605|PMID:29068602|PMID:29428354|PMID:29431110|PMID:29444371|PMID:29791750|PMID:30665703|PMID:31365035|PMID:31637781|PMID:32066784 2620 Flg filaggrin gene DOID:0110098 atopic dermatitis 2 susceptibility ISO RGD:737239 D RGD:7240710 20230510 OMIM 2620 Flg filaggrin gene DOID:0111940 immunodeficiency 42 ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2620 Flg filaggrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2620 Flg filaggrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2620 Flg filaggrin gene DOID:11372 megacolon ISO RGD:737239 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2620 Flg filaggrin gene DOID:1540 parathyroid carcinoma ISO RGD:737239 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2620 Flg filaggrin gene DOID:1697 ichthyosis ISO RGD:737239 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:25741868 2620 Flg filaggrin gene DOID:1702 ichthyosis vulgaris ISO RGD:737239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17417636|PMID:24061166 2620 Flg filaggrin gene DOID:1702 ichthyosis vulgaris ISO RGD:737239 D RGD:1598947|PMID:16444271 20070105 RGD DNA:nonsense mutation, deletion:cds, exon:p.R501X, g.2282delCAGT (human) 2620 Flg filaggrin gene DOID:1702 ichthyosis vulgaris ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Ichthyosis vulgaris PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:17291859|PMID:17417636|PMID:17657246|PMID:18200065|PMID:18239616|PMID:18325573|PMID:18396323|PMID:18662816|PMID:19183181|PMID:19501237|PMID:19538357|PMID:19663875|PMID:19733298|PMID:19785597|PMID:19839980|PMID:19874431|PMID:20426775|PMID:20573035|PMID:20674819|PMID:21039602|PMID:21365004|PMID:21377035|PMID:21428977|PMID:21514438|PMID:21564328|PMID:21777221|PMID:21923666|PMID:22220561|PMID:22403702|PMID:22407025|PMID:22951058|PMID:22995991|PMID:23039796|PMID:23166590|PMID:23301728|PMID:23343419|PMID:23352160|PMID:23947670|PMID:23993222|PMID:24033266|PMID:24077912|PMID:24251354|PMID:24565632|PMID:24608987|PMID:24629053|PMID:24920311|PMID:25314673|PMID:25333069|PMID:25741868|PMID:25997159|PMID:26451970|PMID:27279822|PMID:27363669|PMID:27462351|PMID:27519469|PMID:28120571|PMID:28143684|PMID:28164424|PMID:28213896|PMID:28407221|PMID:28492532|PMID:28730607|PMID:29054605|PMID:29056476|PMID:29068602|PMID:29130490|PMID:29428354|PMID:29431110|PMID:29444371|PMID:29791750|PMID:30665703|PMID:30681730|PMID:31365035|PMID:31637781|PMID:32066784|PMID:33116287|PMID:34008892 2620 Flg filaggrin gene DOID:1702 ichthyosis vulgaris susceptibility ISO RGD:737239 D RGD:7240710 20230510 OMIM 2620 Flg filaggrin gene DOID:2723 dermatitis ISO RGD:737239 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 2620 Flg filaggrin gene DOID:2773 contact dermatitis ISO RGD:737239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2620 Flg filaggrin gene DOID:3310 atopic dermatitis ISO RGD:737239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19349982|PMID:23042114|PMID:23348739|PMID:24061166 2620 Flg filaggrin gene DOID:3310 atopic dermatitis ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:18325573|PMID:19501237|PMID:19839980|PMID:19874431|PMID:21514438|PMID:22403702|PMID:23947670|PMID:24033266|PMID:24920311|PMID:25741868|PMID:27279822|PMID:27363669|PMID:31637781 2620 Flg filaggrin gene DOID:5812 MHC class II deficiency ISO RGD:737239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2620 Flg filaggrin gene DOID:630 genetic disease ISO RGD:737239 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29056476 2620 Flg filaggrin gene DOID:9004430 Hyperhidrosis Palmaris Et Plantaris ISO RGD:737239 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: HYPRPP PMID:25741868 2620 Flg filaggrin gene DOID:9007356 Eczema ISO RGD:737239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17417636 2620 Flg filaggrin gene DOID:9007356 Eczema ISO RGD:737239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Eczema PMID:16444271|PMID:16550169|PMID:16815158|PMID:17030239|PMID:18325573|PMID:19501237|PMID:19839980|PMID:19874431|PMID:21514438|PMID:22403702|PMID:23947670|PMID:24033266|PMID:24920311|PMID:25741868|PMID:27279822|PMID:27363669|PMID:31637781 2620 Flg filaggrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737239 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0001816 angiosarcoma ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737202 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737202 D RGD:2289965|PMID:15841074 20080220 RGD associated with Carcinoma, Ductal, Breast 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0060224 atrial fibrillation ISO RGD:737202 D RGD:8551825|PMID:20631454 20140414 RGD mRNA,protein:increased expression:heart: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:737202 D RGD:8551824|PMID:11220380 20140414 RGD protein:increased expression:endothelial cell: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:737202 D RGD:8551824|PMID:11220380 20140414 RGD protein:increased expression:endothelial cell: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:737202 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:18679377|PMID:28628106 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:1582493|PMID:15472115 20061110 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:243048428|PMID:22262697 20230330 RGD mRNA,protein:increased expression:placenta 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737202 D RGD:10402118|PMID:22868384 20151016 RGD protein:increased expression:vitreous: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:737202 D RGD:10402108|PMID:24812550 20151015 RGD DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human) 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:737202 D RGD:10402116|PMID:20609706 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:11212 hydrophthalmos ISO RGD:734184 D RGD:8549773|PMID:22426483 20140404 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:11382 corneal neovascularization treatment IMP D RGD:10402147|PMID:19647313 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737202 D RGD:10402122|PMID:22003089 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:734184 D RGD:5684426|PMID:21731737 20111220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity treatment IEP D RGD:155663485|PMID:30652694 20221117 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737202 D RGD:10402118|PMID:22868384 20151016 RGD protein:increased expression:vitreous: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:13208 background diabetic retinopathy ISO RGD:737202 D RGD:10402120|PMID:23853629 20151016 RGD protein:decreased expression:aqueous humor: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737202 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:13378 Kawasaki disease ISO RGD:737202 D RGD:1582494|PMID:11839635 20061110 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:737202 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:1612 breast cancer IEP D RGD:2289937|PMID:10604730 20080219 RGD protein:increased expression:mammary carcinoma cells 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:8552360|PMID:21730877 20140422 RGD protein:increased expression:serum: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:1967 leiomyosarcoma severity ISO RGD:737202 D RGD:2289964|PMID:15823121 20080220 RGD Uterine 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:2154 nephroblastoma severity ISO RGD:737202 D RGD:2289966|PMID:12560388 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:734184 D RGD:10402150|PMID:17077813 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:2696 Leydig cell tumor ISO RGD:737202 D RGD:2301251|PMID:14517422 20081003 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737202 D RGD:7421586|PMID:7876550 20140422 RGD mRNA:protein:skin: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737202 D RGD:5684420|PMID:15681497 20111219 RGD protein:increased expression:lung 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:326 ischemia ISO RGD:734184 D RGD:2313719|PMID:17823371 20091012 RGD protein:increased expression:skeletal muscle 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:737202 D RGD:151665104|PMID:32626543 20220310 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:4448 macular degeneration ISO RGD:734184 D RGD:5684426|PMID:21731737 20111220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:4449 macular retinal edema ISO RGD:737202 D RGD:10402117|PMID:24894397 20151016 RGD associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16596207 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:2289960|PMID:11846206 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:2301250|PMID:18566400 20081003 RGD protein:increased expression:kidney, blood, myeloid cell 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:4676 uremia ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis IEP D RGD:634296|PMID:11981751 20151016 RGD mRNA:increased expressin:liver: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:5844 myocardial infarction IEP D RGD:1601493|PMID:16714360 20151019 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:737202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:8398 osteoarthritis ISO RGD:737202 D RGD:10402109|PMID:15781004 20151015 RGD mRNA:increased expression:trabecular bone: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737202 D RGD:2301255|PMID:10893635 20081003 RGD protein:decreased expression:prostate gland 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:8725 vascular dementia treatment IEP D RGD:10402076|PMID:22500404 20151015 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:8893 psoriasis disease_progression ISO RGD:737202 D RGD:8552359|PMID:20980160 20140422 RGD protein:increased expression:serum: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:737202 D RGD:2313721|PMID:17143550 20091012 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy treatment IEP D RGD:10402119|PMID:18174522 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5684414|PMID:17409380 20151016 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9000528 Coronary Disease ISO RGD:737202 D RGD:2313728|PMID:16139132 20091012 RGD mRNA, protein:increased expression:ventricle myocardium 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9000918 Disease Progression ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21975929 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment IMP D RGD:10402115|PMID:23804076 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:734184 D RGD:10402113|PMID:23977149 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:737202 D RGD:10402112|PMID:10849558 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737202 D RGD:2313731|PMID:15610240 20091013 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002265 Kidney Neoplasms severity ISO RGD:737202 D RGD:2289948|PMID:11448916 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:2289936|PMID:10475375 20080219 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:2289963|PMID:12824880 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:734184 D RGD:6483591|PMID:19180491 20151015 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima IEP D RGD:10402128|PMID:9400373 20151016 RGD mRNA,protein:increased expression:smooth muscle cell: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima treatment IMP D RGD:10402146|PMID:22814749 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:10402152|PMID:17888890 20151016 RGD mRNA:increased expression:brain: 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:734184 D RGD:2301253|PMID:11929819 20081003 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:2289945|PMID:15350351 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:2301254|PMID:11448924 20081003 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737202 D RGD:10402153|PMID:18721816 20151016 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9002801 Recurrence ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737202 D RGD:2289084|PMID:17306351 20081003 RGD mRNA:increased expression:uterine cervix 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:737202 D RGD:2289964|PMID:15823121 20080220 RGD Uterine sarcomas 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:737202 D RGD:10402106|PMID:23041435 20151015 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:737202 D RGD:4891938|PMID:21219633 20110124 RGD Pneumonia associated sepsis 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9004610 Acute Lung Injury IMP D RGD:5684427|PMID:21528367 20111220 RGD associated with Endotoxemia 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313724|PMID:16741021 20091012 RGD mRNA:decreased expression:heart 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734184 D RGD:2313725|PMID:16816123 20091012 RGD mRNA:decreased expression:skeletal muscle 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21135413 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737202 D RGD:2301256|PMID:10831352 20081003 RGD protein:increased expression:endometrium 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737202 D RGD:2301252|PMID:12485477 20081003 RGD mRNA, protein:increased expression:endometrium 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9008821 Otitis Media with Effusion IEP D RGD:8547977|PMID:12875575 20140304 RGD mRNA:increased expression:mucosa of the middle ear; 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:2289961|PMID:11857378 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:737202 D RGD:2289962|PMID:12910290 20080220 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:737202 D RGD:126925191|PMID:16480593 20210513 RGD 2621 Flt1 Fms related receptor tyrosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734184 D RGD:2313719|PMID:17823371 20091012 RGD mRNA, protein:decreased expression:skeletal muscle 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736452 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17127561 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736452 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:630 genetic disease ISO RGD:736452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736452 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 2622 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736452 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27385396 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:12050151|PMID:15876460 20170123 RGD human gene in a mouse model 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:7240710 20130425 OMIM 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0060001 withdrawal disorder IEP D RGD:11667955|PMID:24810662 20170119 RGD mRNA:decreased expression:prefrontal cortex (rat) 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder IMP D RGD:9831152|PMID:24773431 20160427 RGD 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISS RGD:735920 D RGD:13592920 20190516 MouseDO 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0060475 myoclonic-atonic epilepsy IEP D RGD:11667971|PMID:23831253 20170120 RGD protein:decreased expression:hippocampus, cytosol (rat) 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0080600 COVID-19 ISO RGD:735919 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:735919 D RGD:7240710 20200219 OMIM 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:1059 intellectual disability ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15000256|PMID:20425835 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:1059 intellectual disability ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:12849 autistic disorder ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9806479|PMID:14755444|PMID:15000256|PMID:18621663|PMID:20425835 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:12849 autistic disorder ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:25741868|PMID:30208311 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome IMP D RGD:11566052|PMID:24713347 20161130 RGD 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome IMP D RGD:38501107|PMID:28894415 20200818 RGD 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome IMP D RGD:38548926|PMID:27465362 20200922 RGD DNA:deletion:intron 7, exon 8: 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome IMP D RGD:38548928|PMID:30877790 20201210 RGD compared to SD control;DNA:deletion:intron 7, exon 8: 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:15028757|PMID:16043816|PMID:16510718|PMID:17065172|PMID:18835858|PMID:20300527|PMID:22043169|PMID:28616095 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:1601178|PMID:1675488 20070410 RGD DNA:trinucleotide expansion 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:7240710 20131030 OMIM 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome PMID:15805463|PMID:18664458|PMID:21267007|PMID:25171808|PMID:25741868|PMID:7530551|PMID:7633450|PMID:7670500|PMID:8156595|PMID:8490650|PMID:9659908 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735920 D RGD:11566028|PMID:12032354 20161130 RGD 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:14447 gonadal dysgenesis ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:1561 cognitive disorder ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:2030 anxiety disorder ISO RGD:735919 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28616095 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:224 transient cerebral ischemia IEP D RGD:11566024|PMID:22817682 20161130 RGD mRNA, protein:increased expression:striatum (rat) 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:735919 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:12548733 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:630 genetic disease ISO RGD:735919 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10448821|PMID:10611212|PMID:12418611|PMID:12529854|PMID:12871874|PMID:15052536|PMID:16700053|PMID:17166801|PMID:19367323|PMID:20799337|PMID:22463693|PMID:24448548|PMID:25171808|PMID:25561520|PMID:25741868|PMID:26819560|PMID:26880065|PMID:29178241|PMID:8037202|PMID:8490650|PMID:9606468 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:9000998 Brain Injuries IEP D RGD:11667962|PMID:16510718 20170119 RGD protein:altered localization:hippocampus (rat) 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:9001487 Facies ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:9005363 Primary Ovarian Insufficiency, Fragile X-Associated ISO RGD:735920 D RGD:12050152|PMID:22470123 20170123 RGD 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20425835 2623 Fmr1 fragile X messenger ribonucleoprotein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17065172|PMID:22043169 2624 Fn1 fibronectin 1 gene DOID:0050855 renal fibrosis ISO RGD:10594 D RGD:9068421|PMID:22052058 20151019 RGD protein:increased expression:kidney: 2624 Fn1 fibronectin 1 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 2624 Fn1 fibronectin 1 gene DOID:0080600 COVID-19 ISO RGD:736627 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2624 Fn1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis IEP D RGD:7206846|PMID:11025758 20130115 RGD protein:increased expression:kidney 2624 Fn1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736627 D RGD:7206842|PMID:19616291 20130115 RGD DNA:polymorphism: : 2624 Fn1 fibronectin 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868|PMID:28492532 2624 Fn1 fibronectin 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:736627 D RGD:1358624|PMID:12621118 19990101 RGD mRNA, protein:increased expression:cerebral cortex 2624 Fn1 fibronectin 1 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 2624 Fn1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:7240710 20190315 OMIM 2624 Fn1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:32200603|PMID:33605604 2624 Fn1 fibronectin 1 gene DOID:10763 hypertension IAGP D RGD:30296650|PMID:11682445 20200831 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) 2624 Fn1 fibronectin 1 gene DOID:10763 hypertension IEP D RGD:28912746|PMID:11907153 20200902 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) 2624 Fn1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:17324946 2624 Fn1 fibronectin 1 gene DOID:11054 urinary bladder cancer ISO RGD:736627 D RGD:7205680|PMID:20012564 20130114 RGD protein:increased expression:urine 2624 Fn1 fibronectin 1 gene DOID:11372 megacolon ISO RGD:736627 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 2624 Fn1 fibronectin 1 gene DOID:11713 diabetic angiopathy IDA D RGD:1601179|PMID:12716757 20070410 RGD 2624 Fn1 fibronectin 1 gene DOID:11758 iron deficiency anemia IEP D RGD:2301196|PMID:18723004 20151019 RGD mRNA:increased expression:hippocampus: 2624 Fn1 fibronectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 2624 Fn1 fibronectin 1 gene DOID:12897 submandibular gland disease IEP D RGD:7205460|PMID:19097859 20130103 RGD 2624 Fn1 fibronectin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 2624 Fn1 fibronectin 1 gene DOID:14679 VACTERL association IEP D RGD:7205466|PMID:14986037 20130104 RGD protein:increased expression:embryo 2624 Fn1 fibronectin 1 gene DOID:1591 renovascular hypertension IDA D RGD:7205461|PMID:17324142 20130103 RGD 2624 Fn1 fibronectin 1 gene DOID:1790 malignant mesothelioma ISO RGD:736627 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 2624 Fn1 fibronectin 1 gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:7206847|PMID:10082755 20130115 RGD 2624 Fn1 fibronectin 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:736627 D RGD:7206839|PMID:20484935 20130115 RGD 2624 Fn1 fibronectin 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10594 D RGD:30310231|PMID:23919993 20200624 RGD protein:increased expression:lung (mouse) 2624 Fn1 fibronectin 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736627 D RGD:7206844|PMID:15925904 20130115 RGD protein:increased expression:kidney 2624 Fn1 fibronectin 1 gene DOID:3021 acute kidney failure IEP D RGD:7205684|PMID:12884040 20130114 RGD 2624 Fn1 fibronectin 1 gene DOID:3021 acute kidney failure IEP D RGD:729934|PMID:11768240 20130114 RGD protein:increased expression:kidney 2624 Fn1 fibronectin 1 gene DOID:305 carcinoma ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2624 Fn1 fibronectin 1 gene DOID:3068 glioblastoma ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17099729 2624 Fn1 fibronectin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 2624 Fn1 fibronectin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:736627 D RGD:7205637|PMID:20860816 20130114 RGD 2624 Fn1 fibronectin 1 gene DOID:5199 ureteral obstruction IEP D RGD:7205473|PMID:12218318 20130104 RGD 2624 Fn1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:736627 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 2624 Fn1 fibronectin 1 gene DOID:57 aortic valve insufficiency ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 2624 Fn1 fibronectin 1 gene DOID:5844 myocardial infarction IEP D RGD:2325720|PMID:19695229 20130103 RGD protein:decreased expression:heart 2624 Fn1 fibronectin 1 gene DOID:630 genetic disease ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29100092 2624 Fn1 fibronectin 1 gene DOID:783 end stage renal disease ISO RGD:736627 D RGD:7205701|PMID:6665521 20130114 RGD protein:decreased expression:plasma 2624 Fn1 fibronectin 1 gene DOID:784 chronic kidney disease ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 2624 Fn1 fibronectin 1 gene DOID:8398 osteoarthritis ISO RGD:736627 D RGD:10402156|PMID:8646429 20151019 RGD protein:increased expression:cartilage: 2624 Fn1 fibronectin 1 gene DOID:8778 Crohn's disease ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 2624 Fn1 fibronectin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736627 D RGD:7205459|PMID:20347014 20130103 RGD 2624 Fn1 fibronectin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2624 Fn1 fibronectin 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8845050 D RGD:9068941 20200609 RGD PMID:10453785|REF_RGD_ID:11556224 2624 Fn1 fibronectin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:736627 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 2624 Fn1 fibronectin 1 gene DOID:9001049 Staphylococcal Pneumonia IDA D RGD:7205474|PMID:12065530 20130104 RGD 2624 Fn1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:4140452|PMID:19914391 20151019 RGD mRNA:increased expression:liver: 2624 Fn1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:1625201|PMID:15980055 20191218 RGD mRNA:altered expression:liver (rat) 2624 Fn1 fibronectin 1 gene DOID:9002159 Liver Reperfusion Injury IDA D RGD:7205470|PMID:12651615 20130104 RGD 2624 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10594 D RGD:7206843|PMID:16301823 20130115 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney 2624 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413998 2624 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10402169|PMID:22736507 20151019 RGD protein:increased expression:kidney cortex: 2624 Fn1 fibronectin 1 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:10402158|PMID:23383330 20151019 RGD mRNA, protein:increased expression:heart: 2624 Fn1 fibronectin 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2624 Fn1 fibronectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736627 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2624 Fn1 fibronectin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 2624 Fn1 fibronectin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 2624 Fn1 fibronectin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2624 Fn1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:7240710 20130221 OMIM 2624 Fn1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:12042895|PMID:1544672|PMID:17576681|PMID:18268355|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:7747733|PMID:9536098 2624 Fn1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7206838|PMID:22937115 20130115 RGD protein:increased expression:kidney 2624 Fn1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:7296926|PMID:22228707 20150615 RGD 2624 Fn1 fibronectin 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7205629|PMID:11352844 20130109 RGD 2624 Fn1 fibronectin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 2624 Fn1 fibronectin 1 gene DOID:9008691 Liver Injury IEP D RGD:7205469|PMID:7806580 20130104 RGD 2624 Fn1 fibronectin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 2624 Fn1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20551625 2624 Fn1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:7206845|PMID:11213886 20130115 RGD protein:increased expression:plasma 2624 Fn1 fibronectin 1 gene DOID:936 brain disease ISO RGD:736627 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0090039 torsion dystonia 6 ISO RGD:730816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:730816 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:730816 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:28492532 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0111959 immunodeficiency 15B ISO RGD:730816 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:630 genetic disease ISO RGD:730816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:730816 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 2625 Fnta farnesyltransferase, CAAX box, alpha gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:730816 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:735729 D RGD:13210753|PMID:8264230 20170906 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735729 D RGD:13210753|PMID:8264230 20170906 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735729 D RGD:11535375|PMID:26581505 20220825 RGD mRNA,protein:increased expression:tongue (human) 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060001 withdrawal disorder ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15196791|PMID:15196794|PMID:18485423 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:735729 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension IEP D RGD:7242185|PMID:16696897 20130329 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:735729 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:12044476|PMID:24039778 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:11870 Pick's disease ISO RGD:735729 D RGD:10047402|PMID:17548164 20150713 RGD protein:decreased expression:frontal cortex 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12098 trigeminal neuralgia ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12554 hemolytic-uremic syndrome ISO RGD:10596 D RGD:7242276|PMID:15632024 20130402 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:735729 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7984056|PMID:16696126|PMID:18587450|PMID:18988310 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15973680 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1984 rectal benign neoplasm ISO RGD:735729 D RGD:13210759|PMID:21975339 20170906 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2030 anxiety disorder ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:289 endometriosis ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis IEP D RGD:7242278|PMID:11880336 20130402 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3602 toxic encephalopathy ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19220411 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:735729 D RGD:2293757|PMID:15514944 20080612 RGD protein:increased expression:uterine cervix 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:4001 ovarian carcinoma ISO RGD:735729 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure IEP D RGD:2293777|PMID:15623567 20080612 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735729 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:9029167|PMID:28284560 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:863 nervous system disease ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735729 D RGD:7242198|PMID:16049073 20130401 RGD protein: increased expression: kidney 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000363 Hematuria treatment IDA D RGD:7242178|PMID:22634839 20130328 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000363 Hematuria treatment IEP D RGD:7242178|PMID:22634839 20130328 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9630518 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia IEP D RGD:9999169|PMID:22160634 20150408 RGD protein:increased expression:dorsal horn of spinal cord, neuron 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002362 Hyperkinesis ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18355967 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:735729 D RGD:13210752|PMID:21344377 20170906 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury IEP D RGD:2293779|PMID:15121240 20080612 RGD protein:increased expression:brain 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci IEP D RGD:13210754|PMID:1576709 20170906 RGD mRNA, protein:increased expression:colon, epithelial cell 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci treatment IDA D RGD:13432056|PMID:8449605 20170915 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17276011|PMID:18311559|PMID:19533625 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms IEP D RGD:2293780|PMID:14674993 20080613 RGD protein:increased expression:tongue epithelium 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006205 Animal Disease Models ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10596 D RGD:7242184|PMID:19095962 20130329 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735729 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:8777434 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008217 Hemorrhage ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7844257 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7739708 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment IDA D RGD:10395300|PMID:23519232 20150901 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:10596 D RGD:13210758|PMID:11481418 20170906 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:735729 D RGD:13210756|PMID:9781601 20170906 RGD 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:735729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 2626 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9970 obesity ISO RGD:735729 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:732196 D RGD:11535375|PMID:26581505 20220825 RGD protein:decreased expression:tongue (human) 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:732196 D RGD:2293756|PMID:17254320 20080612 RGD mRNA, protein:increased expression:breast 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732196 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:10534 stomach cancer ISO RGD:732196 D RGD:153344570|PMID:28169308 20220826 RGD DNA:SNP:5' utr (human) 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:732196 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:11832 visual epilepsy IEP D RGD:2293787|PMID:11488404 20080613 RGD protein:increased expression:hippocampus 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10597 D RGD:737712|PMID:10655067 19990101 RGD 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:732196 D RGD:153344572|PMID:22419013 20220826 RGD protein:increased expression:colon (human) 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:2746 glycogen storage disease V ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma ISO RGD:732196 D RGD:2293757|PMID:15514944 20080612 RGD protein:decreased expression:uterine cervix 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma IEP D RGD:2293758|PMID:9405228 20080612 RGD mRNA:increased expression:kidney 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure IEP D RGD:2293777|PMID:15623567 20080612 RGD 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:732196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury IEP D RGD:1642465|PMID:15306117 20080612 RGD mRNA:increased expression:hippocampus 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9006947 Fibroadenoma ISO RGD:732196 D RGD:2293756|PMID:17254320 20080612 RGD mRNA, protein:increased expression:breast 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2627 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:732196 D RGD:2293756|PMID:17254320 20080612 RGD mRNA, protein:increased expression:breast 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050156 idiopathic pulmonary fibrosis ISS RGD:10598 D RGD:13592920 20180518 MouseDO OMIM:178500 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733116 D RGD:11535375|PMID:26581505 20220825 RGD mRNA,protein:increased expression:tongue (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733116 D RGD:153344573|PMID:34111459 20220826 RGD mRNA, protein:increased expression:mouth (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:733116 D RGD:153344572|PMID:22419013 20220826 RGD protein:increased expression:colon (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:3068 glioblastoma ISO RGD:733116 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733116 D RGD:11074609|PMID:25375657 20220818 RGD protein:increased expression:lung (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:418 systemic scleroderma ISS RGD:10598 D RGD:13592920 20180518 MouseDO OMIM:181750 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma IEP D RGD:2293758|PMID:9405228 20080612 RGD mRNA:increased expression:kidney 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:733116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733116 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:733116 D RGD:153344517|PMID:30086463 20220819 RGD mRNA:increased expression:liver (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:733116 D RGD:153344521|PMID:32048611 20220819 RGD mRNA:increased expression:liver (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury IEP D RGD:2293779|PMID:15121240 20080612 RGD protein:increased expression:brain 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:733116 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9006618 Liver Metastasis ISO RGD:733116 D RGD:153344554|PMID:30114390 20220825 RGD human cells in mouse model 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9009121 lung metastasis ISO RGD:733116 D RGD:153344557|PMID:30326930 20220825 RGD human cells in mouse model 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:153344553|PMID:35034245 20220825 RGD MRNA, protein:increased expression:colon (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:153344554|PMID:30114390 20220825 RGD mRNA:increased expression:colon (human) 2628 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9261 nasopharynx carcinoma ISO RGD:733116 D RGD:153344557|PMID:30326930 20220825 RGD mRNA:increased expression:nasopharynx (human) 2630 Fshb follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:7240710 20130221 OMIM 2630 Fshb follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia PMID:12161499|PMID:20488225|PMID:22791757|PMID:25052309|PMID:25741868|PMID:28392474|PMID:28492532|PMID:32242295|PMID:4344039|PMID:8220432|PMID:9271483|PMID:9280841|PMID:9624193|PMID:9806482 2630 Fshb follicle stimulating hormone subunit beta gene DOID:1059 intellectual disability ISO RGD:69084 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2630 Fshb follicle stimulating hormone subunit beta gene DOID:12336 male infertility ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:387166 2630 Fshb follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 2630 Fshb follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:1601221|PMID:8220432 20070411 RGD follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift 2630 Fshb follicle stimulating hormone subunit beta gene DOID:14228 oligospermia ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4607150 2630 Fshb follicle stimulating hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 2630 Fshb follicle stimulating hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8263139|PMID:18449926|PMID:24739304 2630 Fshb follicle stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69084 D RGD:28711759|PMID:20651845 20200604 RGD protein:increased expression:adenohypophysis (human) 2630 Fshb follicle stimulating hormone subunit beta gene DOID:3522 lateral medullary syndrome ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17344003 2630 Fshb follicle stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2630 Fshb follicle stimulating hormone subunit beta gene DOID:9000972 Fever ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 2630 Fshb follicle stimulating hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 2631 Cenpi centromere protein I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733555 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2631 Cenpi centromere protein I gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:733555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 2631 Cenpi centromere protein I gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:733555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 2631 Cenpi centromere protein I gene DOID:12849 autistic disorder ISO RGD:733555 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2631 Cenpi centromere protein I gene DOID:5426 primary ovarian insufficiency ISO RGD:733555 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 2631 Cenpi centromere protein I gene DOID:630 genetic disease ISO RGD:733555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2631 Cenpi centromere protein I gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:733555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 2632 Fshr follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:7240710 20130221 OMIM 2632 Fshr follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 1 PMID:10022448|PMID:10551778|PMID:11036902|PMID:11213123|PMID:11754099|PMID:11889179|PMID:12571157|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16864747|PMID:17826728|PMID:18159088|PMID:19172541|PMID:19400992|PMID:20087398|PMID:20237833|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:29157895|PMID:30691934|PMID:31830376|PMID:7553856|PMID:8178824|PMID:9020851|PMID:9769327|PMID:9851774 2632 Fshr follicle stimulating hormone receptor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735571 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 2632 Fshr follicle stimulating hormone receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:22617343|PMID:28492532 2632 Fshr follicle stimulating hormone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:735571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22885925 2632 Fshr follicle stimulating hormone receptor gene DOID:13938 amenorrhea ISO RGD:735571 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868 2632 Fshr follicle stimulating hormone receptor gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:735571 D RGD:1601232|PMID:7553856 20070412 RGD DNA:point mutation:exon:A189V 2632 Fshr follicle stimulating hormone receptor gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:735571 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 2632 Fshr follicle stimulating hormone receptor gene DOID:2999 granulosa cell tumor ISO RGD:735571 D RGD:2289157|PMID:11994539 20080422 RGD 2632 Fshr follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:1601236|PMID:12930928 20070412 RGD DNA:point mutation:exon:D567N 2632 Fshr follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:7240710 20130221 OMIM 2632 Fshr follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian hyperstimulation syndrome | ClinVar Annotator: match by term: Ovarian response to FSH stimulation PMID:10022448|PMID:11036902|PMID:11213123|PMID:12930928|PMID:15080154|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16278261|PMID:16864747|PMID:17721928|PMID:17826728|PMID:18159088|PMID:19400992|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:8894317|PMID:9402264|PMID:9769327 2632 Fshr follicle stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735571 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 2632 Fshr follicle stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:735571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2632 Fshr follicle stimulating hormone receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:735571 D RGD:1601234|PMID:9100567 20070412 RGD sex cord-stromal tumors;DNA:point mutation:F591S 2633 Fst follistatin gene DOID:0050567 orofacial cleft ISO RGD:734008 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 2633 Fst follistatin gene DOID:0060762 restrictive dermopathy ISS RGD:10603 D RGD:13592920 20180518 MouseDO OMIM:275210 2633 Fst follistatin gene DOID:11162 respiratory failure ISO RGD:10603 D RGD:737711|PMID:7885475 19990101 RGD 2633 Fst follistatin gene DOID:11612 polycystic ovary syndrome ISO RGD:734008 D RGD:1601259|PMID:10411917 20070412 RGD DNA:polymorphism 2633 Fst follistatin gene DOID:630 genetic disease ISO RGD:734008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2633 Fst follistatin gene DOID:684 hepatocellular carcinoma ISO RGD:734008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12203361|PMID:19363144 2633 Fst follistatin gene DOID:767 muscular atrophy ISO RGD:734008 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:33034787 2633 Fst follistatin gene DOID:9000217 Stomach Neoplasms ISO RGD:734008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2633 Fst follistatin gene DOID:9001981 Weight Loss ISO RGD:734008 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:33034787 2633 Fst follistatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2633 Fst follistatin gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:329322882|PMID:10415398 20230424 RGD mRNA:decreased expression:brain (rat) 2633 Fst follistatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734008 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2633 Fst follistatin gene DOID:9004590 Acute Liver Failure ISO RGD:734008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 2633 Fst follistatin gene DOID:9007188 Liver Neoplasms ISO RGD:734008 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12203361 2633 Fst follistatin gene DOID:9008939 Breast Neoplasms ISO RGD:734008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 2635 Fth1 ferritin heavy chain 1 gene DOID:0050662 bestrophinopathy ISO RGD:732498 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:25741868|PMID:28492532 2635 Fth1 ferritin heavy chain 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 2635 Fth1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 2635 Fth1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:32698682|PMID:32406594 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) 2635 Fth1 ferritin heavy chain 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:732498 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:25741868|PMID:28492532 2635 Fth1 ferritin heavy chain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2635 Fth1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:7240710 20141015 OMIM 2635 Fth1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:11389486|PMID:14615048|PMID:28492532 2635 Fth1 ferritin heavy chain 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 2635 Fth1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14615048|PMID:25741868|PMID:28492532 2635 Fth1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 2635 Fth1 ferritin heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:732498 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2635 Fth1 ferritin heavy chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 2635 Fth1 ferritin heavy chain 1 gene DOID:1596 depressive disorder ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 2635 Fth1 ferritin heavy chain 1 gene DOID:1790 malignant mesothelioma ISO RGD:732498 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 2635 Fth1 ferritin heavy chain 1 gene DOID:2773 contact dermatitis ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2635 Fth1 ferritin heavy chain 1 gene DOID:3070 high grade glioma ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21385903 2635 Fth1 ferritin heavy chain 1 gene DOID:6000 congestive heart failure IEP D RGD:2315110|PMID:18992754 20091218 RGD protein:decreased expression:heart 2635 Fth1 ferritin heavy chain 1 gene DOID:630 genetic disease ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2635 Fth1 ferritin heavy chain 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:632698|PMID:9054589 20070109 RGD mRNA:increased expression:liver (rat) 2635 Fth1 ferritin heavy chain 1 gene DOID:9000058 Keloid ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 2635 Fth1 ferritin heavy chain 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:13129869|PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 2635 Fth1 ferritin heavy chain 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 2635 Fth1 ferritin heavy chain 1 gene DOID:9005725 Iron Overload ISO RGD:732498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11389486 2635 Fth1 ferritin heavy chain 1 gene DOID:9005725 Iron Overload ISO RGD:732498 D RGD:737708|PMID:11389486 19990101 RGD DNA:snp:5' utr:c.-165T>A (human) 2635 Fth1 ferritin heavy chain 1 gene DOID:9005725 Iron Overload ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 2635 Fth1 ferritin heavy chain 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:11541085|PMID:22639386 20161007 RGD protein:increased expression:hippocampus 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:1059 intellectual disability ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10094192|PMID:25741868|PMID:28492532|PMID:33266441|PMID:7581404|PMID:8401503 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:1598969|PMID:2642067 20070109 RGD DNA:nonsense mutation:cds: (human) 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:7240710 20130221 OMIM 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:10094192|PMID:10496076|PMID:1214294|PMID:12408193|PMID:1281988|PMID:17427030|PMID:17576681|PMID:2012122|PMID:23210910|PMID:24033266|PMID:24767253|PMID:25640679|PMID:25741868|PMID:2642067|PMID:26515723|PMID:27706744|PMID:28492532|PMID:30109123|PMID:31618753|PMID:31980526|PMID:33266441|PMID:7581404|PMID:7815431|PMID:8097260|PMID:8401503|PMID:8504303|PMID:8739734|PMID:9039984|PMID:9536098|PMID:9762612 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:630 genetic disease ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:8947 diabetic retinopathy IEP D RGD:2315932|PMID:10353622 20100115 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:retina 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735673 D RGD:2315943|PMID:8343614 20100118 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553501 D RGD:2315947|PMID:3924473 20100118 RGD 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735673 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:17692550|PMID:23465862|PMID:28492532|PMID:9817922 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735673 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9351 diabetes mellitus ISO RGD:735673 D RGD:2315945|PMID:3609421 20100118 RGD protein:decreased activity:blood platelets 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735673 D RGD:2315931|PMID:16176171 20100115 RGD protein:increased activity:serum 2636 Fuca1 alpha-L-fucosidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735673 D RGD:2315949|PMID:7304074 20100118 RGD protein:decreased activity:plasma 2638 Fut1 fucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:737372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2639 Fut2 fucosyltransferase 2 gene DOID:0050731 vitamin B12 deficiency ISO RGD:735387 D RGD:7240710 20181003 OMIM 2639 Fut2 fucosyltransferase 2 gene DOID:0050731 vitamin B12 deficiency ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin b12 plasma level quantitative trait locus 1 PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235|PMID:8755920|PMID:8928486 2639 Fut2 fucosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:735387 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 2639 Fut2 fucosyltransferase 2 gene DOID:10754 otitis media ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Otitis Media PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235|PMID:8755920|PMID:8928486 2639 Fut2 fucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:735387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2639 Fut2 fucosyltransferase 2 gene DOID:8778 Crohn's disease ISO RGD:735387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 2639 Fut2 fucosyltransferase 2 gene DOID:9000024 Norwalk Virus Infections ISO RGD:735387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SECRETOR/NONSECRETOR POLYMORPHISM PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235 2639 Fut2 fucosyltransferase 2 gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:735387 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency PMID:25741868|PMID:30401457 2639 Fut2 fucosyltransferase 2 gene DOID:9006923 Caliciviridae Infections ISO RGD:735387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12692541 2640 Mid1 midline 1 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:732275 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 2640 Mid1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:7240710 20130221 OMIM 2640 Mid1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 2640 Mid1 midline 1 gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Opitz-Frias syndrome PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 2640 Mid1 midline 1 gene DOID:10629 microphthalmia ISS RGD:732276 D RGD:13592920 20180518 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 2640 Mid1 midline 1 gene DOID:12849 autistic disorder ISO RGD:732275 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2640 Mid1 midline 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732275 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:15121778|PMID:15558842|PMID:25741868 2640 Mid1 midline 1 gene DOID:630 genetic disease ISO RGD:732275 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18360914|PMID:18414213|PMID:25741868|PMID:28492532 2640 Mid1 midline 1 gene DOID:9003133 Hypertelorism ISO RGD:732275 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 2640 Mid1 midline 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732275 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:731929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:1358600|PMID:14999081 19990101 RGD 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:1358602|PMID:15708437 19990101 RGD protein:decreased expression:cerebral cortex, soluble fraction (human) 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:3151 skin squamous cell carcinoma ISS RGD:731930 D RGD:13592920 20180518 MouseDO 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:increased expression:forebrain, postsynaptic density 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:37 skin disease ISS RGD:731930 D RGD:13592920 20180518 MouseDO 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:3770 pulmonary fibrosis ISO RGD:731929 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731929 D RGD:1358593|PMID:12670706 19990101 RGD 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:5426 primary ovarian insufficiency ISO RGD:731929 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:731929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:731929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9003805 Catalepsy ISO RGD:731929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16407246 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9004484 Sepsis IEP D RGD:2324866|PMID:9551931 20100513 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) 2641 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9007730 Burns IEP D RGD:2324864|PMID:12353920 20100513 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:732846 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:1749 squamous cell carcinoma ISO RGD:732846 D RGD:8698657|PMID:16497868 20140812 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:2513 basal cell carcinoma ISO RGD:732846 D RGD:8698657|PMID:16497868 20140812 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:3910 lung adenocarcinoma ISO RGD:732846 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:630 genetic disease ISO RGD:732846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2643 Xrcc6 X-ray repair cross complementing 6 gene DOID:9006205 Animal Disease Models ISO RGD:732846 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733336 D RGD:14695535|PMID:30100243 20190705 RGD 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:733336 D RGD:14695545|PMID:27840945 20190708 RGD associated with type 2 diabetes mellitus 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0081329 glycogen storage disease I ISO RGD:736011 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:7573034|PMID:8211187 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0081329 glycogen storage disease I ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:11714 gestational diabetes ISO RGD:733336 D RGD:2315965|PMID:12595588 20100119 RGD protein:increased activity:liver 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2747 glycogen storage disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10070617|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29750741|PMID:29970488|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:733336 D RGD:14695534|PMID:24717294 20190705 RGD 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:14695549|PMID:11851840 20190708 RGD DNA:SNP:exon:727G>T (human) 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:7240710 20230505 OMIM 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia treatment ISO RGD:736011 D RGD:14695538|PMID:20389290 20190705 RGD human gene in a mouse model 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070617|PMID:10604148|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30956637|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655|PMID:9630072 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736011 D RGD:14695537|PMID:28096054 20190705 RGD associated with Glycogen Storage Disease IA, human gene in a mouse model 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736011 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:14695550|PMID:23744881 20190708 RGD mRNA, protein:decreased expression:liver (rat) 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2315963|PMID:15448092 20100119 RGD mRNA:increased expression:liver 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315960|PMID:16176150 20100119 RGD protein:increased activity:liver, kidney 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:14695533|PMID:27366200 20190705 RGD 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733336 D RGD:14695531|PMID:28189721 20190705 RGD mRNA:decreased expression:liver (mouse) 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007637 Glycogen Storage Disease IA ISO RGD:12418787 D RGD:9068941 20230506 OMIA Glycogen storage disease Ia PMID:11199168|PMID:12101432|PMID:18362924|PMID:19293457|PMID:20163245|PMID:21318173|PMID:21654821|PMID:22185325|PMID:22310927|PMID:23623482|PMID:29802554|PMID:30043186|PMID:31890731|PMID:33348688|PMID:34610166|PMID:36006546|PMID:37021039|PMID:8578635|PMID:9259982 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007661 Dwarfism ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007874 Liver Failure disease_progression ISO RGD:736011 D RGD:14695536|PMID:24583248 20190705 RGD mRNA:decreased expression:liver (human) 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2315959|PMID:16396963 20100119 RGD 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733336 D RGD:728661|PMID:8865366 20100119 RGD 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736011 D RGD:2315966|PMID:10866049 20100119 RGD protein:increased activity:liver 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9452 fatty liver disease IEP D RGD:14695544|PMID:29534506 20190708 RGD mRNA:increased expression:liver (rat) 2644 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9993 hypoglycemia ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050328 congenital hypothyroidism IEP D RGD:10449124|PMID:23693027 20151218 RGD protein:decreased expression:hippocampus 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050476 Barth syndrome ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050800 creatine transporter deficiency ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736474 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10449177|PMID:20211032 20151222 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0080941 acquired angioedema ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:10782016|PMID:11445808|PMID:12064920|PMID:12497642|PMID:12768444|PMID:14278484|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15727905|PMID:16119988|PMID:16143877|PMID:18046504|PMID:18226470|PMID:18568599|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:21507207|PMID:22018328|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:23006493|PMID:2321910|PMID:23479361|PMID:2393028|PMID:24134566|PMID:24460025|PMID:24586352|PMID:2503817|PMID:25326637|PMID:25541721|PMID:25741868|PMID:27519946|PMID:27853304|PMID:28492532|PMID:2912069|PMID:29300386|PMID:31863082|PMID:32425388|PMID:32860008|PMID:33072997|PMID:33636823|PMID:3393536|PMID:34966093|PMID:35840819|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5641629|PMID:5673160|PMID:6698555|PMID:7203486|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7959686|PMID:8370579|PMID:8447319|PMID:8611726|PMID:8860013|PMID:9017974|PMID:9233561|PMID:9250351|PMID:9342374 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:736474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:25741868 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736474 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:736474 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0112003 immunodeficiency 33 ISO RGD:736474 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:10588 adrenoleukodystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:10734064|PMID:12367584|PMID:12737938|PMID:1303173|PMID:14014720|PMID:14278484|PMID:1631957|PMID:16356170|PMID:18452027|PMID:1978554|PMID:21479984|PMID:21931771|PMID:22307442|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:2503817|PMID:25071003|PMID:25201310|PMID:2572288|PMID:25741868|PMID:26633385|PMID:26990548|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27884173|PMID:28195434|PMID:2836867|PMID:28492532|PMID:28852037|PMID:29072585|PMID:29141760|PMID:30161219|PMID:30314477|PMID:31525211|PMID:33636823|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:5448|PMID:6015571|PMID:7949118|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9858856 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:7240710 20230505 OMIM 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10734064|PMID:10782016|PMID:11445808|PMID:11499668|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14278484|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15766741|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16155737|PMID:1631957|PMID:16356170|PMID:16528451|PMID:16777444|PMID:16927025|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18329300|PMID:1924316|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21677401|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22165289|PMID:22293322|PMID:22307442|PMID:22906047|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:23965028|PMID:24033266|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25201310|PMID:25326637|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29339739|PMID:30161219|PMID:30315739|PMID:31525211|PMID:32860008|PMID:33051526|PMID:3338798|PMID:33413378|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:4435794|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5770172|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7803800|PMID:7806085|PMID:7947239|PMID:7947250|PMID:7949118|PMID:8118045|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9192788|PMID:9342374|PMID:9589612|PMID:9858856 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10221015|PMID:10502785|PMID:10643148|PMID:10734064|PMID:10782016|PMID:11024211|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:16088936|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21637675|PMID:21677401|PMID:21874587|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6698555|PMID:6714986|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8490627|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria severity ISO RGD:736474 D RGD:10449115|PMID:24615128 20151218 RGD DNA:point mutation:cds:c.968T>C (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria susceptibility ISO RGD:736474 D RGD:10449111|PMID:25015414 20151217 RGD DNA:SNPs: :multiple 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:12849 autistic disorder ISO RGD:736474 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:13413 hepatic encephalopathy IEP D RGD:10449131|PMID:20405262 20151218 RGD protein:increased expression:cerebellum 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:13580 cholestasis IEP D RGD:2307352|PMID:18802767 20090528 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12028056|PMID:16143877 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:7240710 20171011 OMIM 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:1008056|PMID:10192449|PMID:10221015|PMID:10502785|PMID:10556177|PMID:10571945|PMID:10627140|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10772881|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11261779|PMID:11271380|PMID:11295127|PMID:11400791|PMID:11445808|PMID:11484161|PMID:11499668|PMID:11594515|PMID:11601226|PMID:11780463|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064901|PMID:12064902|PMID:12064920|PMID:12105841|PMID:12130518|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12737940|PMID:12768444|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:14757424|PMID:14757426|PMID:15065213|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:15914531|PMID:16079115|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16753852|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:16944148|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17611006|PMID:17726510|PMID:17877203|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18066402|PMID:18086567|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1879833|PMID:18985093|PMID:1924316|PMID:19422023|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:19632868|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20052779|PMID:20085579|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20713184|PMID:20949590|PMID:21063220|PMID:21153663|PMID:21302115|PMID:21397531|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22139979|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24022758|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:24711023|PMID:24787449|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25189226|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:25925739|PMID:2602358|PMID:2606066|PMID:26060661|PMID:26226515|PMID:26275698|PMID:2633878|PMID:26479991|PMID:26633385|PMID:26693676|PMID:26823837|PMID:26827633|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27495838|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27914961|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:28356147|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:2912886|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387441|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:34007417|PMID:3446582|PMID:34620237 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:34989400|PMID:35313968|PMID:3565372|PMID:35695473|PMID:35840819|PMID:3591235|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4838696|PMID:4974311|PMID:5081671|PMID:511159|PMID:5305539|PMID:5316621|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5775246|PMID:5779160|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6500558|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7849299|PMID:7858267|PMID:7870632|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:7959695|PMID:8118045|PMID:8141125|PMID:8193373|PMID:8241497|PMID:8244337|PMID:835572|PMID:8364584|PMID:8370579|PMID:8436389|PMID:8447319|PMID:8471773|PMID:8477268|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807085|PMID:8807321|PMID:8807322|PMID:8813094|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9290617|PMID:9298828|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9410474|PMID:9444913|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:736474 D RGD:10449113|PMID:24943486 20151217 RGD DNA:missense mutation:cds:202G>A (p.V68M) (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:1591 renovascular hypertension treatment IEP D RGD:10449172|PMID:22684021 20151222 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:224 transient cerebral ischemia IMP D RGD:10449127|PMID:22580330 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:10449105|PMID:25940869 20151217 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:10449114|PMID:24934404 20151217 RGD associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2355 anemia treatment ISO RGD:736474 D RGD:10449108|PMID:25261071 20151217 RGD associated with Kidney Failure, Chronic 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2383 neonatal jaundice ISO RGD:736474 D RGD:10449116|PMID:24460025 20151218 RGD DNA:point mutation: :563C>T (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2729 dyskeratosis congenita ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2773 contact dermatitis ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:10449107|PMID:24923766 20151217 RGD DNA:point mutations: :1376G>T, 1502T>G (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4125296|PMID:10666231 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:1599812|PMID:1999409 20070215 RGD DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4125296|PMID:4728291|PMID:10666231 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15914531|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:18985093|PMID:1924316|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20949590|PMID:21153663|PMID:21302115|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:472761|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6698555|PMID:6714978|PMID:6714986|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7858267|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:8370579|PMID:8447319|PMID:8471773|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8807322|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9299858|PMID:9342374|PMID:9410474|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:3021 acute kidney failure ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:602954|PMID:734759|PMID:4794122 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:3265 chronic granulomatous disease ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:557 kidney disease treatment IEP D RGD:10449175|PMID:22549094 20151222 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:583 hemolytic anemia ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2502894|PMID:4794122|PMID:8562390 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:583 hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:12064901|PMID:25741868|PMID:29300386 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:5844 myocardial infarction treatment IEP D RGD:10449173|PMID:20462747 20151222 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:589 congenital hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:29300386|PMID:5316621 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:607 paraplegia ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:736474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:10734064|PMID:10772881|PMID:10782016|PMID:11261779|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15625830|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16927025|PMID:17018380|PMID:17726510|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999409|PMID:20200584|PMID:20236109|PMID:20602793|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21677401|PMID:21931771|PMID:22018328|PMID:22164279|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23057857|PMID:23144702|PMID:2321910|PMID:23479361|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28756180|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30161219|PMID:30314477|PMID:30315739|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35840819|PMID:4359638|PMID:4388132|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5641629|PMID:5673160|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7803800|PMID:7949118|PMID:7959686|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:6713 cerebrovascular disease ISO RGD:736474 D RGD:10449106|PMID:26072930 20151217 RGD associated with Anemia, Sickle Cell 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma IEP D RGD:10449118|PMID:25473368 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736474 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:83 cataract treatment IDA D RGD:10449123|PMID:24886740 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9000808 Hypercholesterolemia treatment IEP D RGD:10449170|PMID:21966115 20151221 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9000972 Fever ISO RGD:736474 D RGD:10449114|PMID:24934404 20151217 RGD associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human) 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9000998 Brain Injuries IEP D RGD:2307353|PMID:18501200 20090528 RGD protein:decreased expression:hippocampus 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10449128|PMID:21987533 20151218 RGD associated with Hypertension 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:736474 D RGD:10449110|PMID:25092943 20151217 RGD protein:decreased activity:blood 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9002720 Splenomegaly ISO RGD:736474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9003603 Hemolysis ISO RGD:736474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:734759|PMID:5432368 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9003603 Hemolysis ISO RGD:736474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: G6PD GIFU PMID:10502785|PMID:10643148|PMID:11024211|PMID:11499668|PMID:11793482|PMID:12497642|PMID:1562739|PMID:15727905|PMID:16329560|PMID:16607506|PMID:16832|PMID:17587269|PMID:17726510|PMID:20203002|PMID:21446359|PMID:21874587|PMID:22164279|PMID:22171972|PMID:2263506|PMID:22963789|PMID:25440321|PMID:25541721|PMID:25741868|PMID:25775246|PMID:26823837|PMID:28492532|PMID:29300386|PMID:30045279|PMID:31489982|PMID:31862010|PMID:31863082|PMID:33636823|PMID:35840819|PMID:4283789|PMID:4379606|PMID:4435794|PMID:4721339|PMID:5485383|PMID:6714986|PMID:7440223|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:8537082|PMID:9589612 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9004009 Reperfusion Injury IEP D RGD:2307361|PMID:17250641 20090528 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005181 Multi-Infarct Dementia treatment IEP D RGD:10449132|PMID:21279683 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2307337|PMID:19374864 20090528 RGD protein:decreased expression:liver 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2307345|PMID:16718375 20090528 RGD protein:increased expression:lens 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10449121|PMID:25116122 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment IMP D RGD:10449119|PMID:25063801 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006411 Testicular Injury treatment IEP D RGD:10401887|PMID:25446862 20151221 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006599 Hypertriglyceridemia treatment IEP D RGD:10449176|PMID:22947172 20151222 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome IEP D RGD:2307350|PMID:19374165 20090528 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome treatment IEP D RGD:10449117|PMID:24868532 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006693 ALAD-Deficiency Porphyria IEP D RGD:10449130|PMID:23390166 20151218 RGD protein:increased expression:liver 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:10449168|PMID:21864513 20151221 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9007692 Insulin Resistance IEP D RGD:10449129|PMID:23015612 20151218 RGD associated with Obesity;protein:increased expression:pancreas 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9008691 Liver Injury treatment IEP D RGD:10449174|PMID:20950607 20151222 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9279 hyperhomocysteinemia IEP D RGD:10449171|PMID:21717134 20151221 RGD protein:decreased expression:lung 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9281 phenylketonuria IEP D RGD:10449120|PMID:24488205 20151218 RGD 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:736474 D RGD:10449112|PMID:24865682 20151217 RGD protein:decreased activity:blood 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736474 D RGD:2307349|PMID:12853069 20090528 RGD protein:decreased expression:reticulocyte, erythrocyte 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:736474 D RGD:2307348|PMID:15914531 20090528 RGD protein:decreased expression:erythrocyte 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9970 obesity IEP D RGD:2307340|PMID:19230846 20090528 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver 2645 G6pd glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:10608 D RGD:2307347|PMID:15923630 20090528 RGD mRNA, protein:increased expression:white fat 2647 G8 G8 gene gene DOID:11394 adult respiratory distress syndrome EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:12849 autistic disorder ISO RGD:732437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:12849 autistic disorder ISO RGD:732437 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:2377 multiple sclerosis ISO RGD:732437 D RGD:1358628|PMID:9561979 19990101 RGD DNA:repeat::(CA)11-16 (human) 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:732437 D RGD:1358391|PMID:11840313 19990101 RGD DNA:repeat:intron:IVS8CA (human) 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732437 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27572814|PMID:29053855 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:7240710 20221130 OMIM 2648 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features PMID:27572814|PMID:29053855 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:7240710 20190315 OMIM 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 PMID:23934111|PMID:25741868|PMID:26950270|PMID:27273810|PMID:28492532|PMID:31618474 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:6480253|PMID:20066485 20120320 RGD 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:6480254|PMID:16770606 20120320 RGD DNA:SNPs: :rs2351299, rs4482737, rs3832300(human) 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy IEP D RGD:6480237|PMID:15929193 20120319 RGD mRNA:increased expression:brain 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:731063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:1826 epilepsy ISO RGD:731063 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 2649 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:630 genetic disease ISO RGD:731063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:7240710 20190315 OMIM 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25124326|PMID:25741868|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:32533790|PMID:33325057 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:10283 prostate cancer ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:9536098 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31036916|PMID:31785789|PMID:9536098 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:735355 D RGD:6480256|PMID:16080114 20120320 RGD DNA:SNP: :RS2617503, RS12187676 (human) 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:13938 amenorrhea ISO RGD:735355 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:1826 epilepsy ISO RGD:735355 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:5419 schizophrenia ISO RGD:735355 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:630 genetic disease ISO RGD:735355 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735355 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2650 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:735355 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037176 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736139 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:7240710 20230517 OMIM 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 PMID:11742254|PMID:12189488|PMID:23934111|PMID:25741868|PMID:26467025|PMID:26645412|PMID:26950270|PMID:26993267|PMID:27476654|PMID:28053010|PMID:28492532|PMID:33287870|PMID:33585817|PMID:34782754 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736139 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1059 intellectual disability ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28053010|PMID:28492532|PMID:28544625 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:11832 visual epilepsy ISO RGD:736139 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18514161|PMID:19935738|PMID:20550555|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26845707|PMID:26950270|PMID:28492532 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:736139 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9545402|PMID:11920158 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18514161 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:1601269|PMID:16835263 20070412 RGD DNA:SNPs 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1826 epilepsy ISO RGD:736139 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:15878204|PMID:29942082 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1826 epilepsy ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:20550555|PMID:25741868|PMID:26467025|PMID:28492532 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1932 Angelman syndrome ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:1932 Angelman syndrome ISO RGD:736139 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:2661 myoepithelioma ISO RGD:736139 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:5419 schizophrenia ISO RGD:736139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:630 genetic disease ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26467025|PMID:26645412|PMID:26845707|PMID:26950270|PMID:26993267|PMID:28492532|PMID:28607477|PMID:8382702|PMID:9536098 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9000998 Brain Injuries ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:27864847|PMID:28492532|PMID:30185235|PMID:32581362 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736139 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736139 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189488 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:736139 D RGD:1601268|PMID:12189488 20070412 RGD DNA:point mutation:exon:R192H 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:736139 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Insomnia PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:7240710 20230517 OMIM 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23934111|PMID:24088041|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26845707|PMID:26950270|PMID:27476654|PMID:28492532 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9007 sudden infant death syndrome ISO RGD:736139 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9008086 Developmental Disabilities ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18514161|PMID:22303015|PMID:25741868|PMID:28492532 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 2651 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:11742254|PMID:12189488|PMID:16199547|PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23495136|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25533962|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26068938|PMID:26467025|PMID:26645412|PMID:26704558|PMID:26845707|PMID:26950270|PMID:26993267|PMID:27476654|PMID:27622563|PMID:27864847|PMID:28053010|PMID:2828157|PMID:28281572|PMID:28492532|PMID:28544625|PMID:28607477|PMID:29162865|PMID:29961870|PMID:30185235|PMID:30728247|PMID:31164858|PMID:31435640|PMID:33287870|PMID:33585817|PMID:34782754|PMID:8382702|PMID:9536098 2652 Gad1 glutamate decarboxylase 1 gene DOID:0050562 West syndrome ISO RGD:730853 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:22662185|PMID:28492532 2652 Gad1 glutamate decarboxylase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:730853 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:25741868 2652 Gad1 glutamate decarboxylase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:730853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 2652 Gad1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:7240710 20201223 OMIM 2652 Gad1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 PMID:25741868|PMID:28492532|PMID:32282878|PMID:32705143|PMID:33146701 2652 Gad1 glutamate decarboxylase 1 gene DOID:10763 hypertension ISO RGD:730853 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 2652 Gad1 glutamate decarboxylase 1 gene DOID:10970 spastic quadriplegia ISO RGD:730853 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic 2652 Gad1 glutamate decarboxylase 1 gene DOID:12700 hyperprolactinemia ISO RGD:730853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7138674 2652 Gad1 glutamate decarboxylase 1 gene DOID:12849 autistic disorder ISO RGD:730853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17918742 2652 Gad1 glutamate decarboxylase 1 gene DOID:1470 major depressive disorder ISO RGD:730853 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 2652 Gad1 glutamate decarboxylase 1 gene DOID:2030 anxiety disorder susceptibility ISO RGD:730853 D RGD:6480264|PMID:22328461 20120320 RGD DNA:snp(s) (human ortholog) 2652 Gad1 glutamate decarboxylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:730853 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 2652 Gad1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 2652 Gad1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:6480428|PMID:18534564 20120321 RGD protein:decreased expression:prefrontal cortex layers 2-5 (human) 2652 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:17942719|PMID:18923069|PMID:19110320 2652 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:6480427|PMID:21250934 20120321 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus (human) 2652 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:6480428|PMID:18534564 20120321 RGD protein:decreased expression:prefrontal cortex layers 2-5 (human) 2652 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia no_association ISO RGD:730853 D RGD:6480430|PMID:17303389 20120321 RGD DNA:snp(s)::(human - Japanese population) 2652 Gad1 glutamate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2652 Gad1 glutamate decarboxylase 1 gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:16199547|PMID:17576681|PMID:22662185|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32282878|PMID:32705143|PMID:33634263|PMID:9084927|PMID:9536098 2652 Gad1 glutamate decarboxylase 1 gene DOID:9004798 Drug Resistant Epilepsy ISO RGD:730853 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intractable epilepsy PMID:25741868 2652 Gad1 glutamate decarboxylase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 2652 Gad1 glutamate decarboxylase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:730853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 2652 Gad1 glutamate decarboxylase 1 gene DOID:9256 colorectal cancer severity ISO RGD:730853 D RGD:151356759|PMID:26549033 20220215 RGD mRNA:increased expression:colon (human) 2652 Gad1 glutamate decarboxylase 1 gene DOID:9351 diabetes mellitus IDA D RGD:728511|PMID:1924335 19990101 RGD 2653 Gad2 glutamate decarboxylase 2 gene DOID:11714 gestational diabetes ISO RGD:733945 D RGD:2313295|PMID:18588707 20090916 RGD 2653 Gad2 glutamate decarboxylase 2 gene DOID:11832 visual epilepsy susceptibility ISO RGD:10616 D RGD:1302511|PMID:8954991 19990101 RGD 2653 Gad2 glutamate decarboxylase 2 gene DOID:1470 major depressive disorder ISO RGD:733945 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 2653 Gad2 glutamate decarboxylase 2 gene DOID:1826 epilepsy ISS RGD:10616 D RGD:13592920 20180518 MouseDO 2653 Gad2 glutamate decarboxylase 2 gene DOID:3312 bipolar disorder ISO RGD:733945 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 2653 Gad2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:18923069 2653 Gad2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:6480427|PMID:21250934 20120321 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus (human) 2653 Gad2 glutamate decarboxylase 2 gene DOID:630 genetic disease ISO RGD:733945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2653 Gad2 glutamate decarboxylase 2 gene DOID:8947 diabetic retinopathy ISO RGD:733945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21412422 2653 Gad2 glutamate decarboxylase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 2653 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:2313292|PMID:19188044 20090916 RGD 2653 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733945 D RGD:2313294|PMID:19085183 20090916 RGD 2653 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISS RGD:10616 D RGD:13592920 20180518 MouseDO OMIM:222100 2653 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10616 D RGD:2313296|PMID:18005036 20090916 RGD 2653 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733945 D RGD:2313289|PMID:19741189 20090916 RGD 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:1059 intellectual disability ISO RGD:733803 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:1793 pancreatic cancer ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19003803 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:630 genetic disease ISO RGD:733803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15837757 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:5509080|PMID:19124556 20111027 RGD 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9001341 Chloracne ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19190346 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17474084 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 2654 Gadd45a growth arrest and DNA-damage-inducible, alpha gene DOID:9074 systemic lupus erythematosus ISS RGD:736689 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 2656 Galr1 galanin receptor 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:735654 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 2656 Galr1 galanin receptor 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:735654 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 2656 Galr1 galanin receptor 1 gene DOID:1470 major depressive disorder ISO RGD:735654 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 2656 Galr1 galanin receptor 1 gene DOID:630 genetic disease ISO RGD:735654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2656 Galr1 galanin receptor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:735654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 2656 Galr1 galanin receptor 1 gene DOID:8445 intestinal volvulus ISO RGD:735654 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 2656 Galr1 galanin receptor 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:735654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 2656 Galr1 galanin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735654 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2656 Galr1 galanin receptor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735654 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 2656 Galr1 galanin receptor 1 gene DOID:9970 obesity no_association ISO RGD:735654 D RGD:1625748|PMID:15930442 20070628 RGD 2657 Galr2 galanin receptor 2 gene DOID:1470 major depressive disorder ISO RGD:733781 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 2657 Galr2 galanin receptor 2 gene DOID:630 genetic disease ISO RGD:733781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2658 Galr3 galanin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 2658 Galr3 galanin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2658 Galr3 galanin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2658 Galr3 galanin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2658 Galr3 galanin receptor 3 gene DOID:1470 major depressive disorder ISO RGD:735333 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 2658 Galr3 galanin receptor 3 gene DOID:630 genetic disease ISO RGD:735333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:27848944|PMID:28055022|PMID:28438604|PMID:28492532|PMID:28600779|PMID:29506905|PMID:29655203|PMID:31130284|PMID:31222513|PMID:32214227|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15651030 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:7240710 20130221 OMIM 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:23846910|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:28055022|PMID:28438604|PMID:28492532|PMID:29506905|PMID:29655203|PMID:31130284|PMID:32214227|PMID:33996490|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732024 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:732024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15651030 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15108290|PMID:16199547|PMID:24415674|PMID:25741868|PMID:26467025|PMID:28492532 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:1826 epilepsy ISO RGD:732024 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:3652 Leigh disease ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:5339 cyclic hematopoiesis ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:630 genetic disease ISO RGD:732024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:15108290|PMID:15651030|PMID:16855203|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:28055022|PMID:28492532|PMID:29506905|PMID:8651275|PMID:9386672|PMID:9536098 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:9006534 Nervous System Malformations ISO RGD:732024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15108290|PMID:21140503|PMID:24415674|PMID:25741868|PMID:28492532|PMID:29506905 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15651030 2659 Gamt guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:1601275|PMID:8651275 20070412 RGD GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion 2660 Ganc glucosidase, alpha; neutral C gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1350162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:10330340|PMID:15689361|PMID:28492532 2660 Ganc glucosidase, alpha; neutral C gene DOID:2717 Bloom syndrome ISO RGD:1350162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2660 Ganc glucosidase, alpha; neutral C gene DOID:630 genetic disease ISO RGD:1350162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2660 Ganc glucosidase, alpha; neutral C gene DOID:9256 colorectal cancer ISO RGD:1350162 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0050827 rheumatic heart disease IEP D RGD:13792679|PMID:26823728 20180919 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0050866 oral squamous cell carcinoma IEP D RGD:13792673|PMID:27375172 20180919 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060108 brain glioma IEP D RGD:13792685|PMID:26032618 20180920 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:735871 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735871 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080855 Parkinsonism ISO RGD:735871 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:29886133 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0111621 Temtamy syndrome ISO RGD:735871 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease IDA D RGD:13792614|PMID:17324518 20180918 RGD protein:decreased activity:cerebral cortex, hippocampus 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:10619 D RGD:13792614|PMID:17324518 20180918 RGD protein:decreased activity:cerebral cortex, cerebellum 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:13792604|PMID:28087189 20180917 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:13792612|PMID:18340469 20180918 RGD DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:13792613|PMID:17387692 20180918 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease onset ISO RGD:735871 D RGD:1358618|PMID:15507493 19990101 RGD DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735871 D RGD:13792611|PMID:20864222 20180918 RGD DNA:SNP:5' utr:rs3741916 (human) 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:12858 Huntington's disease ISO RGD:10619 D RGD:13792684|PMID:26268247 20180920 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:1749 squamous cell carcinoma ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:1826 epilepsy IEP D RGD:13792618|PMID:30143487 20180918 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735871 D RGD:152995523|PMID:29885404 20220628 RGD protein:increased expression:lung (human) 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:3525 middle cerebral artery infarction IDA D RGD:13792686|PMID:25882840 20180920 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:3910 lung adenocarcinoma ISO RGD:735871 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:735871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:21472284 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:8398 osteoarthritis ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:8947 diabetic retinopathy IEP D RGD:2315975|PMID:18852331 20100120 RGD associated with Diabetes Mellitus, Experimental 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:13792677|PMID:27256506 20180919 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000888 Pregnancy in Diabetics IEP D RGD:2315979|PMID:12716756 20100120 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:13792615|PMID:30195603 20180918 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:13792671|PMID:27655796 20180919 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005749 Necrosis ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25725130 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006205 Animal Disease Models ISO RGD:735871 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735871 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007364 Mouth Neoplasms ISO RGD:735871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:11574725|PMID:27129213 20180919 RGD 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735871 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735871 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:735871 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868|PMID:27737959 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:10619 D RGD:13792662|PMID:28258188 20180919 RGD protein:decreased acetylation 2661 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9970 obesity treatment IEP D RGD:13792668|PMID:27987997 20180919 RGD 2662 Gast gastrin gene DOID:299 adenocarcinoma ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 2662 Gast gastrin gene DOID:630 genetic disease ISO RGD:735826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2662 Gast gastrin gene DOID:750 peptic ulcer disease ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10700044 2662 Gast gastrin gene DOID:77 gastrointestinal system disease ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12729842 2662 Gast gastrin gene DOID:9000217 Stomach Neoplasms ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15492468 2662 Gast gastrin gene DOID:9002928 Colonic Neoplasms ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 2662 Gast gastrin gene DOID:9004009 Reperfusion Injury ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 2662 Gast gastrin gene DOID:9005172 Lung Neoplasms ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11208460 2662 Gast gastrin gene DOID:9206 Barrett's esophagus ISO RGD:735826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 2663 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:10450734|PMID:15572684 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:731384 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 2663 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:731384 D RGD:10450752|PMID:17570514 20160120 RGD mRNA:increased expression:bone marrow 2663 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:731384 D RGD:10450753|PMID:12145700 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731384 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2663 Gata1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:10450612|PMID:14636651 20160119 RGD 2663 Gata1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 2663 Gata1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Transient myeloproliferative syndrome PMID:27993330 2663 Gata1 GATA binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731384 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731384 D RGD:10450612|PMID:14636651 20160119 RGD 2663 Gata1 GATA binding protein 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome PMID:12172547|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:27993330|PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731384 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:7240710 20150513 OMIM 2663 Gata1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis PMID:11809723|PMID:12200364|PMID:14691578|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:23704091|PMID:25741868|PMID:28492532|PMID:871527 2663 Gata1 GATA binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:7240710 20150513 OMIM 2663 Gata1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:871527 2663 Gata1 GATA binding protein 1 gene DOID:12241 beta thalassemia treatment ISO RGD:731384 D RGD:10450613|PMID:16696909 20160119 RGD 2663 Gata1 GATA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:731384 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2663 Gata1 GATA binding protein 1 gene DOID:1324 lung cancer ISO RGD:731384 D RGD:149735197|PMID:28814673 20210712 RGD mRNA:increased expression:regulatory T cell:lung associated T cell 2663 Gata1 GATA binding protein 1 gene DOID:13271 cutaneous porphyria ISO RGD:731384 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cutaneous porphyria PMID:12200364|PMID:17148589|PMID:20301538 2663 Gata1 GATA binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:11566888|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15070711|PMID:15895080|PMID:15920471|PMID:16095949|PMID:16199547|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24255919|PMID:24453067|PMID:24728327|PMID:24766296|PMID:24952648|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:8628290|PMID:871527 2663 Gata1 GATA binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731384 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:871527 2663 Gata1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:7240710 20150513 OMIM 2663 Gata1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:25741868|PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:1470 major depressive disorder ISO RGD:731384 D RGD:6892958|PMID:22885997 20160120 RGD mRNA:increased expression:dorsolateral prefrontal cortex 2663 Gata1 GATA binding protein 1 gene DOID:1588 thrombocytopenia ISO RGD:10621 D RGD:10450735|PMID:16966598 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:1588 thrombocytopenia ISO RGD:731384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16966598 2663 Gata1 GATA binding protein 1 gene DOID:1588 thrombocytopenia ISO RGD:731384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11418466|PMID:20301538|PMID:23278136|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 2663 Gata1 GATA binding protein 1 gene DOID:1596 depressive disorder IEP D RGD:6892958|PMID:22885997 20160120 RGD mRNA:increased expression:prefrontal cortex 2663 Gata1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:10621 D RGD:6892958|PMID:22885997 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:731384 D RGD:11049534|PMID:25340772 20210713 RGD 2663 Gata1 GATA binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:731384 D RGD:149735196|PMID:31069596 20210712 RGD 2663 Gata1 GATA binding protein 1 gene DOID:2355 anemia ISO RGD:731384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 2663 Gata1 GATA binding protein 1 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731384 D RGD:149735195|PMID:25230694 20210712 RGD 2663 Gata1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:731384 D RGD:10450748|PMID:16127162 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISS RGD:10621 D RGD:13592920 20180518 MouseDO OMIM:254450 2663 Gata1 GATA binding protein 1 gene DOID:630 genetic disease ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:8432 polycythemia IEP D RGD:149735329|PMID:27587253 20210715 RGD mRNA,protein:increased expression:CD71 positive bone marrow cell 2663 Gata1 GATA binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:10621 D RGD:10450751|PMID:23719302 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:15070711|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 2663 Gata1 GATA binding protein 1 gene DOID:9000557 Thrombocytopenia 1 ISO RGD:731384 D RGD:10450747|PMID:12200364 20160120 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) 2663 Gata1 GATA binding protein 1 gene DOID:9000784 Fibrosis ISO RGD:10621 D RGD:10450614|PMID:15665119 20160119 RGD 2663 Gata1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:7240710 20220629 OMIM 2663 Gata1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to PMID:28492532|PMID:3164080|PMID:35030251 2663 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:10450740|PMID:10700180 20160120 RGD DNA:missense mutation: :p.M205V, 613G>A (human) 2663 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:10450743|PMID:11418466 20160120 RGD DNA:missense mutation: :p.D218G, 653A>G (human) 2663 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:10450749|PMID:11675338 20160120 RGD DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human) 2663 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:7240710 20150513 OMIM 2663 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia PMID:10700180|PMID:11418466|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23278136|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:31064749|PMID:3164080|PMID:32581362|PMID:34355501|PMID:35030251|PMID:871527 2663 Gata1 GATA binding protein 1 gene DOID:9005785 Altitude Sickness ISO RGD:731384 D RGD:10450750|PMID:18078130 20160120 RGD mRNA, protein:increased expression:bone marrow, mononuclear cell 2663 Gata1 GATA binding protein 1 gene DOID:9006561 Familial Myelofibrosis ISO RGD:10621 D RGD:10450737|PMID:12149188 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731384 D RGD:10450754|PMID:7579412 20160120 RGD 2663 Gata1 GATA binding protein 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731384 D RGD:149735196|PMID:31069596 20210712 RGD 2664 Gata2 GATA binding protein 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:734291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 2664 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:21892158|PMID:21892162|PMID:27992414 2664 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:7240710 20230505 OMIM 2664 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26492932|PMID:26702063|PMID:26812071|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29588856|PMID:30578959|PMID:31035956|PMID:31340620|PMID:31350183|PMID:32135276|PMID:33510405|PMID:4508672 2664 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:734291 D RGD:10450753|PMID:12145700 20160407 RGD mRNA:increased expression:bone marrow: 2664 Gata2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:11049512|PMID:21670465 20160407 RGD 2664 Gata2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:7240710 20230505 OMIM 2664 Gata2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS | ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:16199547|PMID:17576681|PMID:18250304|PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26748574|PMID:26812071|PMID:27013649|PMID:27232273|PMID:27266944|PMID:27288520|PMID:27375010|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28104920|PMID:28209719|PMID:28259234|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28642594|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29077208|PMID:29146883|PMID:29156497|PMID:29588856|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30620726|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:34051752|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 2664 Gata2 GATA binding protein 2 gene DOID:1222 cartilage disease ISO RGD:734291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 2664 Gata2 GATA binding protein 2 gene DOID:12449 aplastic anemia ISO RGD:734291 D RGD:11049519|PMID:11328281 20160407 RGD mRNA:decreased expression:CD34+ cell 2664 Gata2 GATA binding protein 2 gene DOID:1596 depressive disorder ISO RGD:734291 D RGD:11049534|PMID:25340772 20160408 RGD 2664 Gata2 GATA binding protein 2 gene DOID:2349 arteriosclerosis ISO RGD:734291 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 2664 Gata2 GATA binding protein 2 gene DOID:2355 anemia ISO RGD:69110 D RGD:11049511|PMID:22996665 20160407 RGD 2664 Gata2 GATA binding protein 2 gene DOID:2355 anemia ISO RGD:734291 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:28492532 2664 Gata2 GATA binding protein 2 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:734291 D RGD:149735195|PMID:25230694 20210712 RGD 2664 Gata2 GATA binding protein 2 gene DOID:4977 lymphedema ISO RGD:734291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892158 2664 Gata2 GATA binding protein 2 gene DOID:630 genetic disease ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2664 Gata2 GATA binding protein 2 gene DOID:865 vasculitis ISO RGD:734291 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 2664 Gata2 GATA binding protein 2 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:734291 D RGD:11049517|PMID:19304323 20160407 RGD DNA:missense mutation:cds:p.L359V 2664 Gata2 GATA binding protein 2 gene DOID:9002514 Neointima ISO RGD:734291 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 2664 Gata2 GATA binding protein 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:734291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 2664 Gata2 GATA binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:734291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:25741868|PMID:28492532 2664 Gata2 GATA binding protein 2 gene DOID:9004771 Vascular Remodeling ISO RGD:734291 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 2664 Gata2 GATA binding protein 2 gene DOID:9005724 Fungal Lung Diseases IEP D RGD:9587813|PMID:16774119 20141021 RGD associated with Pneumocystis Infections 2664 Gata2 GATA binding protein 2 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:734291 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 2664 Gata2 GATA binding protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22533337|PMID:24754962|PMID:25741868|PMID:26445707|PMID:28492532|PMID:28873162|PMID:29797310|PMID:33715335 2664 Gata2 GATA binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:69110 D RGD:11049511|PMID:22996665 20160407 RGD 2664 Gata2 GATA binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 2664 Gata2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:7240710 20230505 OMIM 2664 Gata2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:16199547|PMID:17576681|PMID:18250304|PMID:19449416|PMID:20040766|PMID:20803646|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22996659|PMID:2322343|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24167460|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24359037|PMID:24514424|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:25955867|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26702063|PMID:26710799|PMID:26716079|PMID:26748574|PMID:26767875|PMID:26812071|PMID:27013649|PMID:27232273|PMID:27266944|PMID:27288520|PMID:27375010|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27799394|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28066994|PMID:28104920|PMID:28126493|PMID:28209719|PMID:28234738|PMID:28259234|PMID:28271814|PMID:28373026|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28602958|PMID:28642594|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29146883|PMID:29146900|PMID:29156497|PMID:29178327|PMID:29189513|PMID:29230432|PMID:29279357|PMID:29365323|PMID:29588856|PMID:29680795|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:29947977|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30564229|PMID:30578959|PMID:30620726|PMID:30697248|PMID:30802360|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31785092|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32488879|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:33759087|PMID:33957466|PMID:34051752|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 2664 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:11049514|PMID:24514424 20160407 RGD mRNA:decreased expression:CD34+ bone marrow cell: 2664 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892158|PMID:21892162 2664 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:7240710 20230505 OMIM 2664 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24728327|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:4508672|PMID:8701948 2664 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:734291 D RGD:11049510|PMID:25241285 20160407 RGD 2664 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:734291 D RGD:11049515|PMID:22786876 20160407 RGD 2664 Gata2 GATA binding protein 2 gene DOID:9270 alkaptonuria ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 2665 Gata4 GATA binding protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:737140 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 2665 Gata4 GATA binding protein 4 gene DOID:0060224 atrial fibrillation ISO RGD:737140 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 2665 Gata4 GATA binding protein 4 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:737140 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries PMID:12845333|PMID:25741868 2665 Gata4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:7240710 20130221 OMIM 2665 Gata4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 2 PMID:12845333|PMID:15810002|PMID:15863664|PMID:17548362|PMID:17576681|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:21637475|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27374936|PMID:27391137|PMID:27535533|PMID:28132688|PMID:28492532|PMID:29377543|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 2665 Gata4 GATA binding protein 4 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868|PMID:28492532 2665 Gata4 GATA binding protein 4 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:22011241|PMID:24033266|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27899157|PMID:28492532|PMID:29368431|PMID:32992319 2665 Gata4 GATA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:737140 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2665 Gata4 GATA binding protein 4 gene DOID:10907 microcephaly ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:28492532|PMID:32992319 2665 Gata4 GATA binding protein 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737140 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18076106|PMID:20874241|PMID:24033266|PMID:25741868|PMID:27374936|PMID:28492532 2665 Gata4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 2665 Gata4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:25741868|PMID:28492532|PMID:32748548 2665 Gata4 GATA binding protein 4 gene DOID:1574 alcohol use disorder ISO RGD:737140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20585342 2665 Gata4 GATA binding protein 4 gene DOID:1657 ventricular septal defect ISO RGD:737140 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2665 Gata4 GATA binding protein 4 gene DOID:1682 congenital heart disease IEP D RGD:9588314|PMID:23333085 20141028 RGD associated with Vitamin A Deficiency; DNA,mRNA,protein:hypermethylation, decreased expression:heart: 2665 Gata4 GATA binding protein 4 gene DOID:1682 congenital heart disease ISO RGD:737140 D RGD:1580390|PMID:12845333 19990101 RGD 2665 Gata4 GATA binding protein 4 gene DOID:1682 congenital heart disease ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:18055909|PMID:20347099|PMID:20981092|PMID:24000169|PMID:25741868|PMID:27426723|PMID:27535533|PMID:28492532|PMID:30152191|PMID:33116287 2665 Gata4 GATA binding protein 4 gene DOID:1882 atrial heart septal defect ISO RGD:737140 D RGD:155883161|PMID:27418595 20230202 RGD DNA:mutation:cds:p.G115W (human) 2665 Gata4 GATA binding protein 4 gene DOID:1882 atrial heart septal defect ISO RGD:737140 D RGD:7207050|PMID:21373748 20130117 RGD DNA:missense mutation: :p.G21V (human) 2665 Gata4 GATA binding protein 4 gene DOID:1882 atrial heart septal defect ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:30755392 2665 Gata4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23426975 2665 Gata4 GATA binding protein 4 gene DOID:5844 myocardial infarction ISO RGD:737140 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20200331 2665 Gata4 GATA binding protein 4 gene DOID:5844 myocardial infarction treatment IMP D RGD:7327215|PMID:23948075 20130917 RGD 2665 Gata4 GATA binding protein 4 gene DOID:630 genetic disease ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28798025 2665 Gata4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:7240710 20140924 OMIM 2665 Gata4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:23626780|PMID:24000169|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27535533|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:30152191|PMID:31513339|PMID:32748548|PMID:32992319 2665 Gata4 GATA binding protein 4 gene DOID:6420 pulmonary valve stenosis ISO RGD:737140 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532 2665 Gata4 GATA binding protein 4 gene DOID:6432 pulmonary hypertension IEP D RGD:7207053|PMID:21059997 20130117 RGD protein:increased expression:heart right ventricle 2665 Gata4 GATA binding protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:737140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16259952|PMID:18252717 2665 Gata4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:7240710 20140903 OMIM 2665 Gata4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 PMID:17643447|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21519287|PMID:21631294|PMID:21637914|PMID:22101736|PMID:23626780|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29377543|PMID:29670578|PMID:31513339|PMID:32748548|PMID:32992319 2665 Gata4 GATA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737140 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2665 Gata4 GATA binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7207042|PMID:22293779 20130116 RGD protein:increased serine phosphorylation:heart 2665 Gata4 GATA binding protein 4 gene DOID:9006205 Animal Disease Models ISO RGD:737140 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 2665 Gata4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:7240710 20140911 OMIM 2665 Gata4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease PMID:15863664|PMID:17576681|PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21220346|PMID:21519287|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27899157|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:29735817|PMID:30455927|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 2665 Gata4 GATA binding protein 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737140 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 2665 Gata4 GATA binding protein 4 gene DOID:9007174 Ventricular Remodeling ISO RGD:737140 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 2665 Gata4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:7240710 20140903 OMIM 2665 Gata4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 4 PMID:12845333|PMID:12939651|PMID:15235040|PMID:15863664|PMID:16199547|PMID:17352393|PMID:17576681|PMID:17592645|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19353638|PMID:19678963|PMID:19915893|PMID:20347099|PMID:20450724|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21055141|PMID:21110066|PMID:21220346|PMID:21276881|PMID:21373748|PMID:21519287|PMID:21631294|PMID:21637475|PMID:21834050|PMID:21933911|PMID:22011241|PMID:22318994|PMID:22498567|PMID:22648249|PMID:23138528|PMID:23239632|PMID:23626780|PMID:23696316|PMID:24033266|PMID:24127225|PMID:24696446|PMID:25205790|PMID:25516202|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27391137|PMID:27418595|PMID:27426723|PMID:27535533|PMID:27810688|PMID:27899157|PMID:28132688|PMID:28161810|PMID:28471988|PMID:28492532|PMID:28798025|PMID:29368431|PMID:29377543|PMID:29670578|PMID:29735817|PMID:30152191|PMID:30293987|PMID:30455927|PMID:30755392|PMID:31322791|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32901917|PMID:32992319|PMID:33865372|PMID:35063694|PMID:9536098 2665 Gata4 GATA binding protein 4 gene DOID:9008217 Hemorrhage ISO RGD:737140 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 2665 Gata4 GATA binding protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 2665 Gata4 GATA binding protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 2665 Gata4 GATA binding protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:20854389|PMID:24033266|PMID:24696446|PMID:25741868|PMID:27810688|PMID:28492532|PMID:33865372 2666 Gata6 GATA binding protein 6 gene DOID:0050651 atrioventricular septal defect ISO RGD:735650 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2666 Gata6 GATA binding protein 6 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735650 D RGD:13208874|PMID:24452072 20170822 RGD human cells in a mouse model 2666 Gata6 GATA binding protein 6 gene DOID:0050877 pancreatic agenesis ISO RGD:735650 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22158542 2666 Gata6 GATA binding protein 6 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:735650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 2666 Gata6 GATA binding protein 6 gene DOID:0110114 atrial heart septal defect 9 ISO RGD:735650 D RGD:7240710 20140903 OMIM 2666 Gata6 GATA binding protein 6 gene DOID:0110114 atrial heart septal defect 9 ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 9 PMID:20631719|PMID:25741868|PMID:28492532 2666 Gata6 GATA binding protein 6 gene DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ISO RGD:735650 D RGD:7240710 20141015 OMIM 2666 Gata6 GATA binding protein 6 gene DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome PMID:19666519|PMID:20581743|PMID:22158542|PMID:22962692|PMID:24385578|PMID:25741868|PMID:31006513|PMID:8071961 2666 Gata6 GATA binding protein 6 gene DOID:1059 intellectual disability ISO RGD:735650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2666 Gata6 GATA binding protein 6 gene DOID:1657 ventricular septal defect ISO RGD:735650 D RGD:13208872|PMID:22407241 20170822 RGD DNA:missense mutation:cds:p.G220S (human) 2666 Gata6 GATA binding protein 6 gene DOID:1657 ventricular septal defect ISO RGD:735650 D RGD:13208873|PMID:23020118 20170822 RGD DNA:missense mutation:cds:p.D404Y (human) 2666 Gata6 GATA binding protein 6 gene DOID:1682 congenital heart disease ISO RGD:735650 D RGD:13208832|PMID:20631719 20170818 RGD DNA:missense mutation:cds:p.S184N (human) 2666 Gata6 GATA binding protein 6 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:9068407|PMID:18280291 20170822 RGD mRNA:decreased expression:heart (rat) 2666 Gata6 GATA binding protein 6 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:735650 D RGD:126848756|PMID:33387086 20210428 RGD DNA:mutations 2666 Gata6 GATA binding protein 6 gene DOID:630 genetic disease ISO RGD:735650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27756709|PMID:28492532|PMID:28518168|PMID:28659821|PMID:32461654 2666 Gata6 GATA binding protein 6 gene DOID:6419 tetralogy of Fallot ISO RGD:735650 D RGD:7240710 20130221 OMIM 2666 Gata6 GATA binding protein 6 gene DOID:6419 tetralogy of Fallot ISO RGD:735650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20581743|PMID:20631719|PMID:25741868|PMID:28492532|PMID:29389947 2666 Gata6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension IEP D RGD:2314194|PMID:19842842 20091104 RGD mRNA, protein:decreased expression:lung 2666 Gata6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:735650 D RGD:13208869|PMID:23583651 20170822 RGD protein:decreased expression:lung, arteriole, venule (human) 2666 Gata6 GATA binding protein 6 gene DOID:6432 pulmonary hypertension ISO RGD:735651 D RGD:13208869|PMID:23583651 20170822 RGD 2666 Gata6 GATA binding protein 6 gene DOID:674 cleft palate ISO RGD:735651 D RGD:13208933|PMID:27391658 20170823 RGD protein:decreased expression:secondary palatal shelf (mouse) 2666 Gata6 GATA binding protein 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:735650 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:22158542|PMID:24385578|PMID:25741868 2666 Gata6 GATA binding protein 6 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:735650 D RGD:7240710 20140903 OMIM 2666 Gata6 GATA binding protein 6 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:735650 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:17576681|PMID:18414213|PMID:19666519|PMID:20581743|PMID:20631719|PMID:22158542|PMID:22318994|PMID:22750565|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:27756709|PMID:28381408|PMID:28492532|PMID:28518168|PMID:28659821|PMID:28991257|PMID:29101065|PMID:31264968|PMID:31271559|PMID:32461654|PMID:9536098 2666 Gata6 GATA binding protein 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:735650 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:19666519 2666 Gata6 GATA binding protein 6 gene DOID:9005172 Lung Neoplasms ISO RGD:735650 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 2666 Gata6 GATA binding protein 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735650 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 2666 Gata6 GATA binding protein 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:735650 D RGD:7240710 20180530 OMIM 2666 Gata6 GATA binding protein 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:735650 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:25741868|PMID:28492532 2666 Gata6 GATA binding protein 6 gene DOID:9007908 Aortic Coarctation ISO RGD:735650 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 2666 Gata6 GATA binding protein 6 gene DOID:9008217 Hemorrhage ISO RGD:735650 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 2666 Gata6 GATA binding protein 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735650 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 2666 Gata6 GATA binding protein 6 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735650 D RGD:13208870|PMID:25445407 20170822 RGD protein:increased expression: esophagus squamous epithelium (human) 2666 Gata6 GATA binding protein 6 gene DOID:9351 diabetes mellitus ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:20581743|PMID:22158542|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559 2666 Gata6 GATA binding protein 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:22158542|PMID:23223019|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559 2667 Gc GC, vitamin D binding protein gene DOID:0050784 primary progressive multiple sclerosis ISO RDG:736902 D RGD:5509869|PMID:20093204 20111109 RGD protein:increased expression:cerebrospinal fluid: 2667 Gc GC, vitamin D binding protein gene DOID:11446 sciatic neuropathy ISO RDG:736902 D RGD:2316214|PMID:15509515 20111110 RGD protein:increased expression:nerve 2667 Gc GC, vitamin D binding protein gene DOID:12205 dengue disease ISO RDG:736902 D RGD:5509870|PMID:19845402 20111109 RGD protein:increased expression:plasma 2667 Gc GC, vitamin D binding protein gene DOID:12361 Graves' disease ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12050214 2667 Gc GC, vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RDG:736902 D RGD:5509883|PMID:16868893 20111110 RGD DNA:polymorphism:cds:p.T420K(human) 2667 Gc GC, vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RDG:736902 D RGD:5509886|PMID:12050214 20111110 RGD DNA:repeats:intron 2667 Gc GC, vitamin D binding protein gene DOID:1289 neurodegenerative disease ISO RDG:736902 D RGD:5509872|PMID:19000909 20111109 RGD 2667 Gc GC, vitamin D binding protein gene DOID:13141 uveitis susceptibility ISO RDG:736902 D RGD:5509918|PMID:21844150 20111111 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human) 2667 Gc GC, vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RDG:736902 D RGD:5509929|PMID:11521994 20111114 RGD 2667 Gc GC, vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11510020 2667 Gc GC, vitamin D binding protein gene DOID:14115 toxic shock syndrome ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 2667 Gc GC, vitamin D binding protein gene DOID:1586 rheumatic fever ISO RDG:736902 D RGD:5509933|PMID:2737695 20111114 RGD 2667 Gc GC, vitamin D binding protein gene DOID:2316 brain ischemia IEP D RGD:1625796|PMID:11239198 20111110 RGD protein:increased expression:urine 2667 Gc GC, vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RDG:736902 D RGD:5509922|PMID:19324981 20111111 RGD protein:increased expression:plasma: 2667 Gc GC, vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RDG:736902 D RGD:5509923|PMID:18807170 20111111 RGD protein:decreased expression:cerebrospinal fluid 2667 Gc GC, vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25590278 2667 Gc GC, vitamin D binding protein gene DOID:2377 multiple sclerosis no_association ISO RDG:736902 D RGD:5509887|PMID:12044990 20111110 RGD DNA:SNPs:exon:p.T420K, D416E(human) 2667 Gc GC, vitamin D binding protein gene DOID:2377 multiple sclerosis susceptibility ISO RDG:736902 D RGD:5509885|PMID:12137326 20111110 RGD 2667 Gc GC, vitamin D binding protein gene DOID:2841 asthma ISO RDG:736902 D RGD:5509920|PMID:21169467 20111111 RGD protein, mRNA:increased expression:bronchoalveolar lavage fluid: 2667 Gc GC, vitamin D binding protein gene DOID:2841 asthma ISO RGD:10624 D RGD:5509920|PMID:21169467 20111111 RGD 2667 Gc GC, vitamin D binding protein gene DOID:289 endometriosis severity ISO RDG:736902 D RGD:5509874|PMID:18334925 20111109 RGD 2667 Gc GC, vitamin D binding protein gene DOID:3021 acute kidney failure ISO RGD:736902 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2667 Gc GC, vitamin D binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RDG:736902 D RGD:5509932|PMID:9517617 20111114 RGD 2667 Gc GC, vitamin D binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736902 D RGD:1331525|PMID:15118671 19990101 GAD 2667 Gc GC, vitamin D binding protein gene DOID:5082 liver cirrhosis ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 2667 Gc GC, vitamin D binding protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RDG:736902 D RGD:5509934|PMID:2883392 20111114 RGD 2667 Gc GC, vitamin D binding protein gene DOID:5419 schizophrenia ISO RGD:736902 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 2667 Gc GC, vitamin D binding protein gene DOID:630 genetic disease ISO RGD:736902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2667 Gc GC, vitamin D binding protein gene DOID:684 hepatocellular carcinoma IEP D RGD:5509919|PMID:21683810 20111111 RGD protein:increased expression:liver 2667 Gc GC, vitamin D binding protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736902 D RGD:14402025|PMID:25541958 20190522 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human) 2667 Gc GC, vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RDG:736902 D RGD:5509931|PMID:9548303 20111114 RGD protein:decreased expression:plasma 2667 Gc GC, vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3874814 2667 Gc GC, vitamin D binding protein gene DOID:848 arthritis susceptibility ISO RDG:736902 D RGD:5509918|PMID:21844150 20111111 RGD associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) 2667 Gc GC, vitamin D binding protein gene DOID:8577 ulcerative colitis susceptibility ISO RDG:736902 D RGD:5509866|PMID:21832969 20111109 RGD DNA:polymorphism:cds:p.T420K(human) 2667 Gc GC, vitamin D binding protein gene DOID:8778 Crohn's disease susceptibility ISO RDG:736902 D RGD:5509866|PMID:21832969 20111109 RGD DNA:polymorphism:cds:p.T420K(human) 2667 Gc GC, vitamin D binding protein gene DOID:8947 diabetic retinopathy ISO RGD:736902 D RGD:2315548|PMID:16080911 20100104 RGD protein:increased expression:vitreous body 2667 Gc GC, vitamin D binding protein gene DOID:9000888 Pregnancy in Diabetics IEP D RGD:2315537|PMID:3948765 20100104 RGD protein:decreased expression:plasma 2667 Gc GC, vitamin D binding protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 2667 Gc GC, vitamin D binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2667 Gc GC, vitamin D binding protein gene DOID:9001600 Wounds and Injuries ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 2667 Gc GC, vitamin D binding protein gene DOID:9001600 Wounds and Injuries treatment IEP D RGD:11041807|PMID:24263389 20160329 RGD associated with Diabetes Mellitus, Experimental 2667 Gc GC, vitamin D binding protein gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 2667 Gc GC, vitamin D binding protein gene DOID:9004086 AIDS Dementia Complex ISO RDG:736902 D RGD:5509882|PMID:17929958 20111110 RGD associated with HIV Infections;protein:increased expression:cerebrospinal fluid: 2667 Gc GC, vitamin D binding protein gene DOID:9004257 Pneumonia, Ventilator-Associated ISO RDG:736902 D RGD:5509873|PMID:21136918 20111109 RGD protein:increased expression:bronchoalveolar fluid: 2667 Gc GC, vitamin D binding protein gene DOID:9004590 Acute Liver Failure ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8666322|PMID:17852808 2667 Gc GC, vitamin D binding protein gene DOID:9005172 Lung Neoplasms ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 2667 Gc GC, vitamin D binding protein gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315540|PMID:3838933 20100104 RGD protein:decreased expression:serum 2667 Gc GC, vitamin D binding protein gene DOID:9006086 Intervertebral Disc Displacement ISO RDG:736902 D RGD:5509883|PMID:16868893 20111110 RGD protein:increased expression:cerebrospinal fluid 2667 Gc GC, vitamin D binding protein gene DOID:9006182 Carotid Artery Injuries IEP D RGD:5509868|PMID:21416056 20111109 RGD protein:decreased expression:plasma 2667 Gc GC, vitamin D binding protein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736902 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2667 Gc GC, vitamin D binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 2667 Gc GC, vitamin D binding protein gene DOID:9007651 Chronic Bronchitis susceptibility ISO RDG:736902 D RGD:5129516|PMID:12096683 20111110 RGD 2667 Gc GC, vitamin D binding protein gene DOID:9351 diabetes mellitus ISO RDG:736902 D RGD:5509921|PMID:20054029 20111111 RGD protein:increased expression:ascitic fluid 2667 Gc GC, vitamin D binding protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736902 D RGD:2315558|PMID:11239517 20100104 RGD DNA:polymorphism:exon:p.D416E(human) 2668 Gcg glucagon gene DOID:0060180 colitis ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22323126 2668 Gcg glucagon gene DOID:10652 Alzheimer's disease ISO RGD:68970 D RGD:10402366|PMID:23035082 20151021 RGD 2668 Gcg glucagon gene DOID:10763 hypertension ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2668 Gcg glucagon gene DOID:114 heart disease ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3277781 2668 Gcg glucagon gene DOID:1168 familial hyperlipidemia ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:69995 2668 Gcg glucagon gene DOID:11716 prediabetes syndrome ISO RGD:68970 D RGD:2313224|PMID:19654434 20090914 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2668 Gcg glucagon gene DOID:12849 autistic disorder ISO RGD:68970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 2668 Gcg glucagon gene DOID:178 vascular disease ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10464538 2668 Gcg glucagon gene DOID:2018 hyperinsulinism ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3019152 2668 Gcg glucagon gene DOID:4195 hyperglycemia ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:3019152|PMID:18669601 2668 Gcg glucagon gene DOID:6000 congestive heart failure ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7608802 2668 Gcg glucagon gene DOID:630 genetic disease ISO RGD:68970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2668 Gcg glucagon gene DOID:76 stomach disease ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17891687 2668 Gcg glucagon gene DOID:9000046 Poisoning ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7629900 2668 Gcg glucagon gene DOID:9001109 Anorexia ISO RGD:68970 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:21824258|PMID:28633506 2668 Gcg glucagon gene DOID:9001581 Constipation ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12107204 2668 Gcg glucagon gene DOID:9001661 Taste Disorders ISO RGD:68970 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:21824258 2668 Gcg glucagon gene DOID:9002362 Hyperkinesis ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9798264 2668 Gcg glucagon gene DOID:9002395 Hypothermia ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10464538 2668 Gcg glucagon gene DOID:9002554 Tachycardia ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7629900 2668 Gcg glucagon gene DOID:9002928 Colonic Neoplasms ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 2668 Gcg glucagon gene DOID:9003805 Catalepsy ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9798264 2668 Gcg glucagon gene DOID:9005100 Aberrant Crypt Foci ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 2668 Gcg glucagon gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10402370|PMID:18996945 20151021 RGD 2668 Gcg glucagon gene DOID:9006024 Hypotension ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:8517581 2668 Gcg glucagon gene DOID:9006462 Coma ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10464538 2668 Gcg glucagon gene DOID:9006638 Sinus Tachycardia ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7359351 2668 Gcg glucagon gene DOID:9006743 Spasm ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7192515 2668 Gcg glucagon gene DOID:9007001 Bradycardia ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:3736332|PMID:6542785|PMID:7787496|PMID:9674488 2668 Gcg glucagon gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:68970 D RGD:10402369|PMID:24125539 20151021 RGD 2668 Gcg glucagon gene DOID:9352 type 2 diabetes mellitus ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23466488 2668 Gcg glucagon gene DOID:9970 obesity ISO RGD:68970 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20065960 2669 Gcgr glucagon receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 2669 Gcgr glucagon receptor gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:69010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20529775 2669 Gcgr glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:7240710 20210602 OMIM 2669 Gcgr glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GCGR-related hyperglucagonemia PMID:19657311|PMID:25695890|PMID:25741868|PMID:27933176|PMID:30032256|PMID:32785645 2669 Gcgr glucagon receptor gene DOID:630 genetic disease ISO RGD:69010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2669 Gcgr glucagon receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69010 D RGD:1625208|PMID:7773293 20070529 RGD DNA:mutation:exon:G40S 2669 Gcgr glucagon receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69010 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 2670 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10525657|PMID:10694920|PMID:10753050|PMID:11508276|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15277402|PMID:15305805|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19790256|PMID:19903754|PMID:20337973|PMID:21348868|PMID:21518409|PMID:21521320|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23433541|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24568320|PMID:24578721|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27080136|PMID:27167055|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28492532|PMID:28842611|PMID:29284910|PMID:29510678|PMID:30086370|PMID:30257192|PMID:30592380|PMID:31197960|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8446612|PMID:9049484|PMID:9867845 2670 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:26123671|PMID:26467025|PMID:26552609|PMID:26587058|PMID:27080136|PMID:27106716|PMID:27167055|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:33477506|PMID:34373539|PMID:34440516|PMID:34746319|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9662401|PMID:9867845 2670 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34746319|PMID:34789499|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 2670 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34662886|PMID:34746319|PMID:34789499|PMID:35176401|PMID:35592779|PMID:35737141|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 2670 Gck glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 2670 Gck glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 2670 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism 2670 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18382660|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:31957151|PMID:33072637|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 2670 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 2670 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:21831042|PMID:22291974|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28331372|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30191644|PMID:30257192|PMID:31197960|PMID:31216263|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9536098 2670 Gck glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:7240710 20130221 OMIM 2670 Gck glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency PMID:10447526|PMID:10455021|PMID:10525657|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11553210|PMID:11916951|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:1502186|PMID:15277402|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17082186|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18271687|PMID:19146401|PMID:19790256|PMID:20132997|PMID:20301620|PMID:20375417|PMID:21569204|PMID:21604084|PMID:21720051|PMID:22335469|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24323243|PMID:24518839|PMID:24578721|PMID:24728127|PMID:24735133|PMID:25015100|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31094068|PMID:31197960|PMID:31638168|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:9049484|PMID:9435328|PMID:9469993|PMID:9536098 2670 Gck glucokinase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 2670 Gck glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115832 2670 Gck glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:7240710 20130221 OMIM 2670 Gck glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11079754|PMID:11106831|PMID:11315828|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11692182|PMID:11772903|PMID:11942313|PMID:12050210|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1303265|PMID:1349989|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15305805|PMID:15448103|PMID:1545870|PMID:15580558|PMID:15657605|PMID:15667334|PMID:15677479|PMID:1570017|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16173921|PMID:16199547|PMID:16444761|PMID:16502298|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16938872|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18407139|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20005544|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21604084|PMID:21696527|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22332836|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22525692|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295287|PMID:23295292|PMID:23433541|PMID:23771172|PMID:23771925|PMID:23890519|PMID:24001579|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24411943|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25182307|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25723349|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26059258|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27185633|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27271189|PMID:27913849|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28555465|PMID:28575730|PMID:28663157|PMID:28701371|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29329106|PMID:29412391|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29792621|PMID:29927023|PMID:30053375|PMID:30086370|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31956423|PMID:31957151|PMID:31968686|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34023340|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34556497|PMID:34662886|PMID:34789499|PMID:35176401|PMID:35592779|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7542040|PMID:7553875|PMID:7555485|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8314448|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:8897004|PMID:8932999|PMID:9049484|PMID:9078243|PMID:9472859|PMID:9536098|PMID:9662401|PMID:9713013|PMID:9736233|PMID:9867845 2670 Gck glucokinase gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:19790256|PMID:25741868|PMID:28726111 2670 Gck glucokinase gene DOID:10763 hypertension susceptibility ISO RGD:735697 D RGD:1581877|PMID:9324112 20061028 RGD 2670 Gck glucokinase gene DOID:11714 gestational diabetes ISO RGD:735697 D RGD:1601293|PMID:8495817 20070416 RGD DNA:point mutation:exon:S131P 2670 Gck glucokinase gene DOID:11714 gestational diabetes ISO RGD:735697 D RGD:2301873|PMID:16752173 20081105 RGD DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human) 2670 Gck glucokinase gene DOID:11714 gestational diabetes ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:10525657|PMID:10754480|PMID:12442280|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:16731834|PMID:17186219|PMID:17389332|PMID:17937063|PMID:18056790|PMID:18414213|PMID:19790256|PMID:20337973|PMID:21395678|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22065275|PMID:22493702|PMID:22820548|PMID:23771172|PMID:24033266|PMID:24568320|PMID:24578721|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29510678|PMID:29777474|PMID:30191644|PMID:32074423|PMID:36257325|PMID:8068341|PMID:8132752|PMID:8433729|PMID:8446612 2670 Gck glucokinase gene DOID:11717 neonatal diabetes ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 2670 Gck glucokinase gene DOID:13317 hyperinsulinemic hypoglycemia ISS RGD:735697 D RGD:13592920 20180518 MouseDO OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 2670 Gck glucokinase gene DOID:2018 hyperinsulinism ISO RGD:735697 D RGD:1601294|PMID:9435328 20070416 RGD hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M 2670 Gck glucokinase gene DOID:2018 hyperinsulinism ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 2670 Gck glucokinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:735697 D RGD:2301876|PMID:15173029 20081105 RGD DNA:SNP:promoter:-30G>A (human) 2670 Gck glucokinase gene DOID:4195 hyperglycemia ISO RGD:735697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 2670 Gck glucokinase gene DOID:4195 hyperglycemia treatment ISO RGD:731555 D RGD:7488968|PMID:21937665 20131210 RGD associated with Diabetes Mellitus, Type 2 2670 Gck glucokinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735697 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2670 Gck glucokinase gene DOID:630 genetic disease ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11393552|PMID:19884385|PMID:21831042|PMID:22101819|PMID:25741868|PMID:26467025|PMID:27188453|PMID:27269892|PMID:28247534|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 2670 Gck glucokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2670 Gck glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:7240710 20200506 OMIM 2670 Gck glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:10525657|PMID:11372010|PMID:11553210|PMID:1502186|PMID:17573900|PMID:17937063|PMID:20301620|PMID:21569204|PMID:21720051|PMID:22335469|PMID:24323243|PMID:24735133|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31638168|PMID:32375122|PMID:33129248|PMID:36257325|PMID:8325892|PMID:8446612|PMID:8495817|PMID:9049484 2670 Gck glucokinase gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2301955|PMID:2132180 20081111 RGD protein:decreased activity:liver:reduced activity, energy of activation and affinity for glucose in streptozotocin diabetic rats 2670 Gck glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2670 Gck glucokinase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:735697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15277402 2670 Gck glucokinase gene DOID:9007692 Insulin Resistance IEP D RGD:7488970|PMID:19039094 20131210 RGD protein:increased expression:pancreatic islet 2670 Gck glucokinase gene DOID:9008691 Liver Injury IDA D RGD:7488971|PMID:22884880 20131210 RGD protein:increased nitration, increased oxidation, decreased expression, decreased activity:liver 2670 Gck glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:1601295|PMID:11372010 20070416 RGD neonatal-onset diabetes mellitus,OMIM:606176;DNA:point mutation:exon:T228M 2670 Gck glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10447526|PMID:10525657|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:23433541|PMID:23506826|PMID:24430320|PMID:24518839|PMID:24660669|PMID:24918535|PMID:25015100|PMID:25182307|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29207974|PMID:29510678|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30245511|PMID:31638168|PMID:32375122|PMID:34440516|PMID:7542040|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004 2670 Gck glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18271687|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:22773699|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:24033266|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24578721|PMID:24606082|PMID:24660669|PMID:24677712|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25174781|PMID:25182307|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:28012402|PMID:28170077|PMID:28371533|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29927023|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31416898|PMID:31604004|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32375122|PMID:32533152|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34108472|PMID:34373539|PMID:34440516|PMID:34556497|PMID:34662886|PMID:34746319|PMID:35176401|PMID:36208030|PMID:36257325|PMID:36400171|PMID:7542040|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:8933019|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9472859|PMID:9662401|PMID:9713013|PMID:9867845 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus IDA D RGD:1582633|PMID:15138155 20081111 RGD protein:altered localization:hepatocyte:impaired translocation from nucleus to cytoplasm in Zucker diabetic fatty rats 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15102714|PMID:15161764|PMID:16123366|PMID:20081858 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:1601292|PMID:1570017 20070416 RGD MODY2, OMIM:125851;DNA:point mutation:E279X 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:2301889|PMID:8325445 20081105 RGD DNA:polymorphisms::significant association between alleles of two SSLPs and T2DM in a Japanese population (human) 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:7240710 20130221 OMIM 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19790256|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21604084|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27269892|PMID:27271189|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:2301883|PMID:8314445 20081105 RGD DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians (human) 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:2301887|PMID:8200206 20081105 RGD DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population (human) 2670 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:7488969|PMID:22234649 20131210 RGD 2670 Gck glucokinase gene DOID:9452 fatty liver disease IDA D RGD:7488945|PMID:22925001 20131206 RGD 2670 Gck glucokinase gene DOID:9452 fatty liver disease ISO RGD:731555 D RGD:7488945|PMID:22925001 20131206 RGD associated with Hyperglycemia 2670 Gck glucokinase gene DOID:9970 obesity IDA D RGD:7488967|PMID:21239437 20131210 RGD DNA, mRNA, protein:hypermethylation, increased expression:liver 2670 Gck glucokinase gene DOID:9993 hypoglycemia ISO RGD:735697 D RGD:1601294|PMID:9435328 20070416 RGD hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M 2671 Gckr glucokinase regulator gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:69130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 2671 Gckr glucokinase regulator gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 2671 Gckr glucokinase regulator gene DOID:630 genetic disease ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2671 Gckr glucokinase regulator gene DOID:783 end stage renal disease ISO RGD:69130 D RGD:7242279|PMID:21980298 20130403 RGD DNA: snp: rs1260326 2671 Gckr glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657596 2671 Gckr glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:22182842|PMID:25741868|PMID:28492532 2671 Gckr glucokinase regulator gene DOID:9006646 Metabolic Syndrome ISO RGD:69130 D RGD:7242423|PMID:19861489 20130404 RGD 2671 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 2671 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:2315983|PMID:19241058 20100121 RGD DNA:polymorphism: :rs780094 (human) 2671 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:2315985|PMID:18556336 20100120 RGD DNA:SNP::rs1260326(human) 2671 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:2315986|PMID:11473043 20100120 RGD 2671 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:7242280|PMID:21411509 20130402 RGD 2671 Gckr glucokinase regulator gene DOID:9970 obesity no_association ISO RGD:69130 D RGD:1626607|PMID:12739015 20070813 RGD 2673 Gdf11 growth differentiation factor 11 gene DOID:0050567 orofacial cleft ISO RGD:731907 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 2673 Gdf11 growth differentiation factor 11 gene DOID:0080600 COVID-19 ISO RGD:731907 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2673 Gdf11 growth differentiation factor 11 gene DOID:630 genetic disease ISO RGD:731907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2673 Gdf11 growth differentiation factor 11 gene DOID:9004229 VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES ISO RGD:731907 D RGD:7240710 20220406 OMIM 2673 Gdf11 growth differentiation factor 11 gene DOID:9004229 VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies PMID:25741868|PMID:31215115 2674 Gdf15 growth differentiation factor 15 gene DOID:1909 melanoma ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 2674 Gdf15 growth differentiation factor 15 gene DOID:2355 anemia treatment ISO RGD:1344001 D RGD:11041612|PMID:25052873 20160324 RGD associated with Multiple Myeloma 2674 Gdf15 growth differentiation factor 15 gene DOID:3393 coronary artery disease ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 2674 Gdf15 growth differentiation factor 15 gene DOID:403 mouth disease ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 2674 Gdf15 growth differentiation factor 15 gene DOID:6000 congestive heart failure ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 2674 Gdf15 growth differentiation factor 15 gene DOID:630 genetic disease ISO RGD:1344001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2674 Gdf15 growth differentiation factor 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20512989 2674 Gdf15 growth differentiation factor 15 gene DOID:8955 sideroblastic anemia ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19036111 2674 Gdf15 growth differentiation factor 15 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23996089 2674 Gdf15 growth differentiation factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16775185|PMID:23996089 2674 Gdf15 growth differentiation factor 15 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19505289 2674 Gdf15 growth differentiation factor 15 gene DOID:9004657 Weight Gain ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2674 Gdf15 growth differentiation factor 15 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24440808 2674 Gdf15 growth differentiation factor 15 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2674 Gdf15 growth differentiation factor 15 gene DOID:9007346 Cachexia ISO RGD:1344001 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 2674 Gdf15 growth differentiation factor 15 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1344001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050476 Barth syndrome ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:13208823|PMID:9620768 20170817 RGD DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human) 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:13208831|PMID:9668174 20170818 RGD DNA:missense mutation:cds:p.R423P (human) 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISS RGD:731728 D RGD:13592920 20180518 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731728 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731728 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:731728 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:7240710 20140911 OMIM 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 PMID:25559331|PMID:25741868|PMID:26975778|PMID:28492532|PMID:8826463|PMID:9106537|PMID:9620768|PMID:9668174 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:731728 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:731728 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:13628 favism ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:1561 cognitive disorder ISO RGD:10630 D RGD:13208822|PMID:18829665 20170817 RGD 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:2468 psychotic disorder ISO RGD:731728 D RGD:13208821|PMID:20421581 20170817 RGD associated with Lupus Vasculitis, Central Nervous System 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:607 paraplegia ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:630 genetic disease ISO RGD:731728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:9002720 Splenomegaly ISO RGD:731728 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8826463|PMID:9668174 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:13208827|PMID:22002931 20170817 RGD DNA:frameshift mutation:cds:p.S396PfsX15 (human) 2676 Gdi1 GDP dissociation inhibitor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731728 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:12301711 D RGD:9068941 20210604 OMIA Acral mutilation syndrome PMID:15842538|PMID:20961556|PMID:28033318|PMID:30955094|PMID:4725277|PMID:6203326|PMID:6259871|PMID:6574711 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0050771 pheochromocytoma ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9215674 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0060161 Kennedy's disease ISO RGD:735823 D RGD:6218978|PMID:10447463 20120307 RGD mRNA:increased expression:skeletal muscle 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9497256 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism IDA D RGD:6218962|PMID:21865882 20120307 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism IEP D RGD:5686884|PMID:22186119 20120306 RGD protein:decreased expression:brain 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9266731|PMID:12213621 2677 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:735823 D RGD:8657066|PMID:16018990 20140529 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8896568|PMID:8968758 2677 Gdnf glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10790203|PMID:10917288|PMID:11565554|PMID:11823451|PMID:12640453|PMID:19184120|PMID:21206993|PMID:22729463|PMID:24033266|PMID:24997227|PMID:25741868|PMID:28492532|PMID:8896568|PMID:8896569|PMID:8968758|PMID:9215674|PMID:9359036|PMID:9497256 2677 Gdnf glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:735823 D RGD:7240710 20190502 OMIM 2677 Gdnf glial cell derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:735823 D RGD:5688777|PMID:22081608 20120306 RGD mRNA, protein:alternate form, decreased expression:brain 2677 Gdnf glial cell derived neurotrophic factor gene DOID:11446 sciatic neuropathy IEP D RGD:6218977|PMID:10852218 20120307 RGD mRNA:increased expression:sciatic nerve 2677 Gdnf glial cell derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:735823 D RGD:8655552|PMID:19937367 20140515 RGD mRNA:increased expression:peripheral nerve: 2677 Gdnf glial cell derived neurotrophic factor gene DOID:12842 Guillain-Barre syndrome ISO RGD:735823 D RGD:6218983|PMID:9853108 20120307 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16943855 2677 Gdnf glial cell derived neurotrophic factor gene DOID:1289 neurodegenerative disease ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11592846 2677 Gdnf glial cell derived neurotrophic factor gene DOID:12894 Sjogren's syndrome ISO RGD:735823 D RGD:6218983|PMID:9853108 20120307 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:13548 secondary Parkinson disease ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19909981 2677 Gdnf glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11031079|PMID:16324109 2677 Gdnf glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:6218968|PMID:16644101 20120307 RGD mRNA:increased expression:putamen 2677 Gdnf glial cell derived neurotrophic factor gene DOID:1793 pancreatic cancer severity ISO RGD:735823 D RGD:2324925|PMID:18652760 20100517 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7854063|PMID:12914250 2677 Gdnf glial cell derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:735823 D RGD:6218965|PMID:19162016 20120307 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:3049 Churg-Strauss syndrome ISO RGD:735823 D RGD:6218983|PMID:9853108 20120307 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:3068 glioblastoma ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 2677 Gdnf glial cell derived neurotrophic factor gene DOID:3070 high grade glioma ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 2677 Gdnf glial cell derived neurotrophic factor gene DOID:3181 oligodendroglioma ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 2677 Gdnf glial cell derived neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735823 D RGD:6218978|PMID:10447463 20120307 RGD mRNA:increased expression:skeletal muscle 2677 Gdnf glial cell derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:40925919|PMID:29497380 20210121 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:4752 multiple system atrophy ISO RGD:10631 D RGD:5688775|PMID:22281106 20120306 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:735823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2677 Gdnf glial cell derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17356005 2677 Gdnf glial cell derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17935603 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:10631 D RGD:5688774|PMID:22342994 20120306 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9000998 Brain Injuries IEP D RGD:2324932|PMID:18501516 20100517 RGD mRNA:increased expression:brain 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9003814 Neurologic Manifestations ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19894114 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10631 D RGD:8657070|PMID:15950786 20140529 RGD mRNA:increased expression:brain: 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735823 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14622243|PMID:15899247 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9005834 Ependymomas ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries IEP D RGD:6218970|PMID:15144875 20120307 RGD 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:735823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11168568 2677 Gdnf glial cell derived neurotrophic factor gene DOID:9810 polyarteritis nodosa ISO RGD:735823 D RGD:6218983|PMID:9853108 20120307 RGD 2679 Gfap glial fibrillary acidic protein gene DOID:0060041 autism spectrum disorder ISO RGD:619574 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2679 Gfap glial fibrillary acidic protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2679 Gfap glial fibrillary acidic protein gene DOID:0060249 scoliosis ISO RGD:619574 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Scoliosis 2679 Gfap glial fibrillary acidic protein gene DOID:0080600 COVID-19 ISO RGD:619574 D RGD:127284892|PMID:33743046 20210615 RGD protein:increased expression:serum (human) 2679 Gfap glial fibrillary acidic protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:619574 D RGD:127284882|PMID:32546655 20210615 RGD protein:increased expression:plasma (human) 2679 Gfap glial fibrillary acidic protein gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:619574 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:11567214|PMID:12034785|PMID:15477559|PMID:15732097|PMID:16217707|PMID:16505300|PMID:17318298|PMID:17629821|PMID:17894839|PMID:18079314|PMID:19484233|PMID:21533827|PMID:25741868|PMID:26208460|PMID:26467025|PMID:26478912|PMID:26743065|PMID:28492532|PMID:30628038 2679 Gfap glial fibrillary acidic protein gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:619574 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 2679 Gfap glial fibrillary acidic protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:619574 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 2679 Gfap glial fibrillary acidic protein gene DOID:12098 trigeminal neuralgia ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2679 Gfap glial fibrillary acidic protein gene DOID:12217 Lewy body dementia ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2679 Gfap glial fibrillary acidic protein gene DOID:14330 Parkinson's disease ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2679 Gfap glial fibrillary acidic protein gene DOID:1826 epilepsy ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177194 2679 Gfap glial fibrillary acidic protein gene DOID:1826 epilepsy ISO RGD:619574 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2679 Gfap glial fibrillary acidic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 2679 Gfap glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31484723 2679 Gfap glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:7240710 20130221 OMIM 2679 Gfap glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alexander disease PMID:11138011|PMID:11398833|PMID:11567214|PMID:11587071|PMID:11595337|PMID:11867077|PMID:12026242|PMID:12034785|PMID:12034796|PMID:12368989|PMID:12447932|PMID:12509855|PMID:12581808|PMID:12638020|PMID:12944715|PMID:12975300|PMID:14550921|PMID:14557587|PMID:15030911|PMID:15390001|PMID:15465095|PMID:15477559|PMID:15675360|PMID:15696488|PMID:15732097|PMID:15732098|PMID:15840648|PMID:16168593|PMID:16168595|PMID:16217707|PMID:16240361|PMID:16505300|PMID:16826512|PMID:16996408|PMID:17043438|PMID:17065456|PMID:17110673|PMID:17156703|PMID:17318298|PMID:17383133|PMID:17438228|PMID:17509491|PMID:17629821|PMID:17703343|PMID:17805552|PMID:17894839|PMID:17934883|PMID:17960815|PMID:17985264|PMID:18054694|PMID:18079314|PMID:18217876|PMID:18388212|PMID:18402384|PMID:18495313|PMID:18581469|PMID:18584981|PMID:18653683|PMID:18684770|PMID:19128991|PMID:19386454|PMID:1941292|PMID:19418047|PMID:19444543|PMID:19484233|PMID:19618846|PMID:19672978|PMID:19948199|PMID:20301351|PMID:20448479|PMID:20562394|PMID:20849398|PMID:21041050|PMID:21132324|PMID:21165639|PMID:21270471|PMID:21533827|PMID:21572052|PMID:21756903|PMID:21822933|PMID:219025661|PMID:21917775|PMID:21940697|PMID:21987397|PMID:22140645|PMID:22198646|PMID:22302460|PMID:22488673|PMID:22566711|PMID:22619055|PMID:22818990|PMID:23149175|PMID:23185175|PMID:23254569|PMID:23364391|PMID:23430549|PMID:23432455|PMID:23634874|PMID:23706596|PMID:23743246|PMID:23903069|PMID:23925719|PMID:24045243|PMID:24188966|PMID:24306001|PMID:24427505|PMID:24742911|PMID:24755947|PMID:25741868|PMID:25997626|PMID:26208460|PMID:26285664|PMID:26467025|PMID:26478912|PMID:26486469|PMID:26743065|PMID:27468269|PMID:27648269|PMID:27814755|PMID:28492532|PMID:28882119|PMID:28953922|PMID:29421207|PMID:29431177|PMID:30048824|PMID:30213442|PMID:30355500|PMID:30628038|PMID:31484723|PMID:31611638|PMID:31942421|PMID:31956193|PMID:32126152|PMID:34146839|PMID:34245630 2679 Gfap glial fibrillary acidic protein gene DOID:4724 brain edema IEP D RGD:5490129|PMID:20111877 20120321 RGD associated with Embolism, Fat;protein:increased expression:brain 2679 Gfap glial fibrillary acidic protein gene DOID:5679 retinal disease IEP D RGD:5490154|PMID:18836575 20120321 RGD protein:increased expression:retina 2679 Gfap glial fibrillary acidic protein gene DOID:574 peripheral nervous system disease ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10447555 2679 Gfap glial fibrillary acidic protein gene DOID:630 genetic disease ISO RGD:619574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11138011|PMID:11398833|PMID:12034785|PMID:14550921|PMID:15390001|PMID:15732097|PMID:16505300|PMID:16826512|PMID:17894839|PMID:18388212|PMID:18684770|PMID:21756903|PMID:22140645|PMID:24742911|PMID:25741868|PMID:26467025|PMID:27814755|PMID:28492532|PMID:30213442|PMID:30355500|PMID:31484723|PMID:31611638 2679 Gfap glial fibrillary acidic protein gene DOID:863 nervous system disease ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9427479|PMID:9634552|PMID:10773198 2679 Gfap glial fibrillary acidic protein gene DOID:8869 neuromyelitis optica ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 2679 Gfap glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries IEP D RGD:6480511|PMID:21250919 20120327 RGD protein:increased expression:spinal cord 2679 Gfap glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:10633 D RGD:6480471|PMID:10225952 20120323 RGD 2679 Gfap glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:40924652|PMID:24968269 20210118 RGD 2679 Gfap glial fibrillary acidic protein gene DOID:9001036 Penetrating Head Injuries ISO RGD:10633 D RGD:6480471|PMID:10225952 20120323 RGD 2679 Gfap glial fibrillary acidic protein gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:38599216|PMID:29323718 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) 2679 Gfap glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia IEP D RGD:8695957|PMID:16219025 20140807 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: 2679 Gfap glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2679 Gfap glial fibrillary acidic protein gene DOID:9003919 Urination Disorders IMP D RGD:6480511|PMID:21250919 20120327 RGD associated with spinal cord injuries 2679 Gfap glial fibrillary acidic protein gene DOID:9006008 Closed Head Injuries IEP D RGD:6480531|PMID:8833197 20120327 RGD 2679 Gfap glial fibrillary acidic protein gene DOID:9006205 Animal Disease Models ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2679 Gfap glial fibrillary acidic protein gene DOID:9007096 Stroke severity ISO RGD:619574 D RGD:5508793|PMID:19959621 20111021 RGD protein:increased expression:cerebrospinal fluid 2679 Gfap glial fibrillary acidic protein gene DOID:9007402 Gliosis ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12183020 2679 Gfap glial fibrillary acidic protein gene DOID:9007921 Spina Bifida Cystica ISO RGD:619574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8422324 2679 Gfap glial fibrillary acidic protein gene DOID:9009131 Ventriculomegaly ISO RGD:619574 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Progressive ventriculomegaly PMID:25741868 2679 Gfap glial fibrillary acidic protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:619574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0050590 severe congenital neutropenia ISS RGD:733642 D RGD:13592920 20180518 MouseDO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0050748 marginal zone lymphoma disease_progression ISO RGD:10634 D RGD:1581305|PMID:15231650 20160308 RGD 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0050908 myelodysplastic syndrome ISO RGD:733642 D RGD:11040459|PMID:18371060 20160308 RGD mRNA:decreased expression:bone marrow: 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:10634 D RGD:11040453|PMID:22932805 20160308 RGD 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:7240710 20140212 OMIM 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:11807637|PMID:12778173|PMID:17576681|PMID:20560965|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:11040449|PMID:11810106 20160308 RGD 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:11040456|PMID:22684987 20160308 RGD DNA:mutation:exon: 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:1240 leukemia ISO RGD:733642 D RGD:11040452|PMID:20723283 20160308 RGD mRNA:increased expression:bone marrow mononuclear cell: 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:630 genetic disease ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:8692 myeloid leukemia ISO RGD:10634 D RGD:11040451|PMID:21732494 20160308 RGD 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16122429 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:733642 D RGD:11040457|PMID:19887785 20160308 RGD mRNA,protein:increased expression:mononuclea cell, CD34+ cell 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:733642 D RGD:11040461|PMID:23411466 20160308 RGD 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733642 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:7240710 20140212 OMIM 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults PMID:11807637|PMID:12778173|PMID:25741868|PMID:28492532 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:733642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2680 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733642 D RGD:11040450|PMID:20075157 20160308 RGD DNA:SNP:cds:c.107G>A(rs34631763)(human) 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism IEP D RGD:6218972|PMID:12210101 20120307 RGD mRNA:altered expression:brain 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism IMP D RGD:6218962|PMID:21865882 20120307 RGD 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:10635 D RGD:6218967|PMID:17507417 20120307 RGD 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733164 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:10487 Hirschsprung's disease ISS RGD:10635 D RGD:13592920 20180518 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:11446 sciatic neuropathy IEP D RGD:6218963|PMID:20533358 20120307 RGD protein:increased expression:spinal cord dorsal horn 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:2316 brain ischemia IEP D RGD:6218981|PMID:10407114 20120307 RGD protein:increased expression:cerebral cortex 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:3049 Churg-Strauss syndrome ISO RGD:733164 D RGD:6218983|PMID:9853108 20120307 RGD 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:630 genetic disease ISO RGD:733164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:6218979|PMID:10407179 20120307 RGD mRNA:increased expression:hypoglossal XII nerve 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9002211 Hyperalgesia IDA D RGD:6218969|PMID:16464682 20120307 RGD 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9004001 Facial Nerve Injuries IEP D RGD:6218984|PMID:9582449 20120307 RGD mRNA:increased expression:facial VII nucleus 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:7240710 20220608 OMIM 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 PMID:25741868|PMID:33020172|PMID:34737117 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9005968 Neuralgia ISO RGD:733164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9007096 Stroke IEP D RGD:6218974|PMID:11476594 20120307 RGD mRNA:increased expression:brain 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:6218970|PMID:15144875 20120307 RGD 2681 Gfra1 GDNF family receptor alpha 1 gene DOID:9810 polyarteritis nodosa ISO RGD:733164 D RGD:6218983|PMID:9853108 20120307 RGD 2682 Ggh gamma-glutamyl hydrolase gene DOID:0080600 COVID-19 ISO RGD:735324 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2682 Ggh gamma-glutamyl hydrolase gene DOID:11054 urinary bladder cancer ISO RGD:735324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 2682 Ggh gamma-glutamyl hydrolase gene DOID:2671 transitional cell carcinoma ISO RGD:735324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 2682 Ggh gamma-glutamyl hydrolase gene DOID:630 genetic disease ISO RGD:735324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2682 Ggh gamma-glutamyl hydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:735324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 2682 Ggh gamma-glutamyl hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2682 Ggh gamma-glutamyl hydrolase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21219404 2682 Ggh gamma-glutamyl hydrolase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:0050741 alcohol dependence IEP D RGD:14701046|PMID:6113606 20190905 RGD protein:increased activity:plasma,liver,intestine: 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:735681 D RGD:14747013|PMID:23730648 20190910 RGD protein:increased expression:serum: 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:7240710 20190315 OMIM 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency PMID:25741868 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:11714 gestational diabetes ISO RGD:735681 D RGD:2315598|PMID:18937705 20100105 RGD protein:increased activity:blood 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:735681 D RGD:14701039|PMID:29056230 20190905 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:1574 alcohol use disorder ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:1826 epilepsy ISO RGD:735681 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:1909 melanoma disease_progression ISO RGD:735681 D RGD:14747014|PMID:6120756 20190910 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:305 carcinoma ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:409 liver disease ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma IEP D RGD:152998935|PMID:6133380 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:735681 D RGD:14747030|PMID:15997630 20190911 RGD associated with Hepatitis B, Chronic; 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735681 D RGD:14701041|PMID:27793641 20190905 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis severity ISO RGD:735681 D RGD:14747031|PMID:25254524 20190911 RGD associated with Hepatitis B, Chronic; 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:735681 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:5844 myocardial infarction ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19419996 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:630 genetic disease ISO RGD:735681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735681 D RGD:14701048|PMID:10572675 20190905 RGD RNA,protein:increased expression, activity:liver: 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:14701040|PMID:11940314 20190905 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:14701041|PMID:27793641 20190905 RGD HBV associated 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:824 periodontitis ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:8947 diabetic retinopathy ISO RGD:735681 D RGD:2315614|PMID:11311965 20100106 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9000528 Coronary Disease ISO RGD:735681 D RGD:2315604|PMID:16772340 20100105 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:serum 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9001542 Albuminuria ISO RGD:735681 D RGD:2315606|PMID:15890893 20100105 RGD associated with Diabetes Mellitus; protein:increased activity:serum 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9001594 Paucibacillary Leprosy ISO RGD:735681 D RGD:14747017|PMID:1680936 20190910 RGD protein:increased activity:blood: 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735681 D RGD:14747019|PMID:10934805 20190910 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315577|PMID:18291430 20100105 RGD protein:increased activity:serum 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:735681 D RGD:14747017|PMID:1680936 20190910 RGD protein:increased activity:blood: 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005725 Iron Overload IEP D RGD:14747018|PMID:9559866 20190910 RGD protein:increased activity:liver 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735681 D RGD:14747015|PMID:24847614 20190910 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:735681 D RGD:1601300|PMID:17095717 20070416 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:14701049|PMID:10934156 20190905 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9351 diabetes mellitus ISO RGD:735681 D RGD:2315601|PMID:17888134 20100105 RGD associated with Cystic Fibrosis; protein:increased activity:plasma 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735681 D RGD:2315593|PMID:19936701 20100105 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9452 fatty liver disease disease_progression ISO RGD:735681 D RGD:14747016|PMID:19670414 20190910 RGD 2683 Ggt1 gamma-glutamyltransferase 1 gene DOID:9743 diabetic neuropathy ISO RGD:735681 D RGD:2315614|PMID:11311965 20100106 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum 2684 Ggt5 gamma-glutamyltransferase 5 gene DOID:1826 epilepsy ISO RGD:733414 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2684 Ggt5 gamma-glutamyltransferase 5 gene DOID:5419 schizophrenia ISO RGD:733414 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2684 Ggt5 gamma-glutamyltransferase 5 gene DOID:630 genetic disease ISO RGD:733414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2684 Ggt5 gamma-glutamyltransferase 5 gene DOID:9005172 Lung Neoplasms IEP D RGD:69846|PMID:9374738 20081113 RGD mRNA:increased expression:lung 2686 Gh1 growth hormone 1 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:69101 D RGD:10401267|PMID:22506635 20151005 RGD 2686 Gh1 growth hormone 1 gene DOID:0050328 congenital hypothyroidism treatment IEP D RGD:10003146|PMID:21162131 20150505 RGD 2686 Gh1 growth hormone 1 gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:1578505|PMID:2752987 20201210 RGD 2686 Gh1 growth hormone 1 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69101 D RGD:12904703|PMID:27114065 20170518 RGD DNA:deletions: : 2686 Gh1 growth hormone 1 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency PMID:12655556|PMID:12655557|PMID:13572267|PMID:15001589|PMID:16741161|PMID:17223997|PMID:18160466|PMID:18473352|PMID:18785993|PMID:18950677|PMID:23182822|PMID:24635352|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30753492|PMID:33729509|PMID:9152628 2686 Gh1 growth hormone 1 gene DOID:0060872 isolated growth hormone deficiency type II ISO RGD:69101 D RGD:7240710 20150506 OMIM 2686 Gh1 growth hormone 1 gene DOID:0060872 isolated growth hormone deficiency type II ISO RGD:69101 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant PMID:10372722|PMID:10445339|PMID:10469016|PMID:10549303|PMID:10629163|PMID:10698162|PMID:11502827|PMID:11502836|PMID:11836331|PMID:11914025|PMID:12000366|PMID:12399418|PMID:12510984|PMID:12574219|PMID:12655557|PMID:12720086|PMID:15001589|PMID:15671105|PMID:16368751|PMID:16491012|PMID:17038549|PMID:17073157|PMID:17178704|PMID:17336732|PMID:17360215|PMID:17726075|PMID:17785368|PMID:18160466|PMID:18473352|PMID:18785993|PMID:18950677|PMID:20351314|PMID:21546299|PMID:23417163|PMID:23736291|PMID:25741868|PMID:26467025|PMID:27253996|PMID:28492532|PMID:28626954|PMID:29739035|PMID:7567462|PMID:7714096|PMID:8530604|PMID:8923859|PMID:9152628|PMID:9175738|PMID:9432120|PMID:9554464|PMID:9578959|PMID:9700205|PMID:9799079 2686 Gh1 growth hormone 1 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:69101 D RGD:12904729|PMID:14594175 20170519 RGD DNA:deletion: : 2686 Gh1 growth hormone 1 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:69101 D RGD:7240710 20150506 OMIM 2686 Gh1 growth hormone 1 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:69101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:10372722|PMID:10445339|PMID:12655557|PMID:15001589|PMID:18160466|PMID:18950677|PMID:2347891|PMID:24635352|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8364549|PMID:8496314|PMID:8530604|PMID:9152628 2686 Gh1 growth hormone 1 gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:69101 D RGD:7240710 20150506 OMIM 2686 Gh1 growth hormone 1 gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:69101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:10372722|PMID:10445339|PMID:10678654|PMID:10689634|PMID:12655557|PMID:15001589|PMID:18160466|PMID:18950677|PMID:24635352|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8496314|PMID:8530604|PMID:9152628 2686 Gh1 growth hormone 1 gene DOID:11476 osteoporosis IEP D RGD:10003132|PMID:1466160 20150504 RGD associated with Diabetes Mellitus, Experimental 2686 Gh1 growth hormone 1 gene DOID:11714 gestational diabetes ISO RGD:69101 D RGD:2315681|PMID:3519044 20100108 RGD protein:increased expression: 2686 Gh1 growth hormone 1 gene DOID:12241 beta thalassemia treatment ISO RGD:69101 D RGD:11352730|PMID:2045623 20160718 RGD 2686 Gh1 growth hormone 1 gene DOID:1287 cardiovascular system disease ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17324600 2686 Gh1 growth hormone 1 gene DOID:1339 Diamond-Blackfan anemia treatment ISO RGD:69101 D RGD:11352737|PMID:25492299 20160718 RGD 2686 Gh1 growth hormone 1 gene DOID:2355 anemia treatment ISO RGD:69101 D RGD:11352732|PMID:11895216 20160718 RGD 2686 Gh1 growth hormone 1 gene DOID:2449 acromegaly ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:3059976|PMID:6237480|PMID:7440347|PMID:9186818|PMID:18381583|PMID:18388193 2686 Gh1 growth hormone 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69101 D RGD:28711759|PMID:20651845 20200604 RGD protein:decreased expression:adenohypophysis (human) 2686 Gh1 growth hormone 1 gene DOID:3491 Turner syndrome ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15151564 2686 Gh1 growth hormone 1 gene DOID:3911 progeria treatment ISO RGD:10643 D RGD:10003141|PMID:20805469 20150504 RGD 2686 Gh1 growth hormone 1 gene DOID:3911 progeria treatment ISO RGD:69101 D RGD:10003141|PMID:20805469 20150504 RGD 2686 Gh1 growth hormone 1 gene DOID:5844 myocardial infarction treatment ISO RGD:69101 D RGD:11352745|PMID:12500159 20160718 RGD 2686 Gh1 growth hormone 1 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1611713|PMID:2042694 2686 Gh1 growth hormone 1 gene DOID:630 genetic disease ISO RGD:69101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2686 Gh1 growth hormone 1 gene DOID:767 muscular atrophy ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8937196 2686 Gh1 growth hormone 1 gene DOID:8398 osteoarthritis ISO RGD:69101 D RGD:10003140|PMID:7152485 20150504 RGD protein:increased expression:plasma 2686 Gh1 growth hormone 1 gene DOID:8432 polycythemia ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15161484 2686 Gh1 growth hormone 1 gene DOID:8947 diabetic retinopathy ISO RGD:69101 D RGD:2315688|PMID:3183302 20100108 RGD 2686 Gh1 growth hormone 1 gene DOID:9000445 Azotemia ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14728886 2686 Gh1 growth hormone 1 gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:69101 D RGD:10003150|PMID:21945950 20150505 RGD 2686 Gh1 growth hormone 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15334695 2686 Gh1 growth hormone 1 gene DOID:9001981 Weight Loss ISO RGD:69101 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:7711889 2686 Gh1 growth hormone 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420816 2686 Gh1 growth hormone 1 gene DOID:9002513 Hypoproteinemia treatment ISO RGD:69101 D RGD:11352738|PMID:11986720 20160718 RGD associated with Liver Cirrhosis 2686 Gh1 growth hormone 1 gene DOID:9003177 Kowarski Syndrome ISO RGD:69101 D RGD:1601313|PMID:9276733 20070416 RGD DNA:point mutation:exon:p.D122G (human) 2686 Gh1 growth hormone 1 gene DOID:9003177 Kowarski Syndrome ISO RGD:69101 D RGD:7240710 20150506 OMIM 2686 Gh1 growth hormone 1 gene DOID:9003177 Kowarski Syndrome ISO RGD:69101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin PMID:10372722|PMID:10445339|PMID:12655557|PMID:15001589|PMID:15713716|PMID:17519310|PMID:18160466|PMID:18950677|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8530604|PMID:8552145|PMID:9152628|PMID:9276733 2686 Gh1 growth hormone 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:69101 D RGD:10003153|PMID:21439711 20150505 RGD 2686 Gh1 growth hormone 1 gene DOID:9004091 Osteophytes IEP D RGD:10003127|PMID:10499542 20150504 RGD associated with Acromegaly 2686 Gh1 growth hormone 1 gene DOID:9004657 Weight Gain ISO RGD:10643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17372281 2686 Gh1 growth hormone 1 gene DOID:9004657 Weight Gain ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17372281 2686 Gh1 growth hormone 1 gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:2315650|PMID:17584969 20100107 RGD 2686 Gh1 growth hormone 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15528971 2686 Gh1 growth hormone 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12082019|PMID:17584969 2686 Gh1 growth hormone 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:11352806|PMID:6139974 20160720 RGD 2686 Gh1 growth hormone 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2315682|PMID:2931155 20100108 RGD 2686 Gh1 growth hormone 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315655|PMID:19370419 20100107 RGD protein:decreased expression:serum, pituitary gland 2686 Gh1 growth hormone 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:69101 D RGD:9686081|PMID:20060348 20150505 RGD associated with Aortic Valve Stenosis 2686 Gh1 growth hormone 1 gene DOID:9006257 Growth Disorders ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15151564 2686 Gh1 growth hormone 1 gene DOID:9006257 Growth Disorders treatment ISO RGD:69101 D RGD:11352731|PMID:10618886 20160718 RGD associated with Beta-Thalassemia 2686 Gh1 growth hormone 1 gene DOID:9007181 Osteoporotic Fractures treatment ISO RGD:69101 D RGD:10003137|PMID:11834155 20150504 RGD 2686 Gh1 growth hormone 1 gene DOID:9007271 Hypoalbuminemia treatment ISO RGD:69101 D RGD:11352734|PMID:10923500 20160718 RGD associated with Sepsis 2686 Gh1 growth hormone 1 gene DOID:9007661 Dwarfism IAGP D RGD:1578505|PMID:2752987 20201210 RGD 2686 Gh1 growth hormone 1 gene DOID:9007661 Dwarfism IAGP D RGD:1578506|PMID:2152867 20201210 RGD 2686 Gh1 growth hormone 1 gene DOID:9007661 Dwarfism IEP D RGD:12905039|PMID:8670892 20170601 RGD mRNA,protein:decreased expression:pituitary gland, blood: 2686 Gh1 growth hormone 1 gene DOID:9007661 Dwarfism ISO RGD:69101 D RGD:12904666|PMID:27252485 20170517 RGD DNA:mutations:promoter:c.-223C>T( rs41295015), c.-185T>C(rs71651677)(human) 2686 Gh1 growth hormone 1 gene DOID:9007661 Dwarfism ISO RGD:69101 D RGD:12905039|PMID:8670892 20170601 RGD 2686 Gh1 growth hormone 1 gene DOID:9007692 Insulin Resistance ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21559284 2686 Gh1 growth hormone 1 gene DOID:9351 diabetes mellitus ISO RGD:69101 D RGD:2315653|PMID:19463895 20100107 RGD protein:increased expression:vitreous body 2686 Gh1 growth hormone 1 gene DOID:9351 diabetes mellitus ISO RGD:69101 D RGD:2315658|PMID:1132599 20100107 RGD protein:increased secretion:plasma 2686 Gh1 growth hormone 1 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:11352744|PMID:26379831 20160718 RGD 2686 Gh1 growth hormone 1 gene DOID:9409 diabetes insipidus ISO RGD:69101 D RGD:2315659|PMID:6777392 20100107 RGD protein:decreased expression:serum 2686 Gh1 growth hormone 1 gene DOID:9744 type 1 diabetes mellitus IDA D RGD:2315685|PMID:2888037 20100108 RGD 2686 Gh1 growth hormone 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69101 D RGD:2315674|PMID:7298798 20100108 RGD protein:increased expression:serum 2686 Gh1 growth hormone 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69101 D RGD:2315684|PMID:3097114 20100108 RGD 2686 Gh1 growth hormone 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:69101 D RGD:11352727|PMID:2494952 20160718 RGD 2686 Gh1 growth hormone 1 gene DOID:9970 obesity ISO RGD:69101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8923850 2687 Ghr growth hormone receptor gene DOID:0050328 congenital hypothyroidism treatment IEP D RGD:10003146|PMID:21162131 20150505 RGD 2687 Ghr growth hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69149 D RGD:1601315|PMID:2813379 20070416 RGD Laron syndrome,OMIM:262500;DNA:deletion 2687 Ghr growth hormone receptor gene DOID:11476 osteoporosis IEP D RGD:10003131|PMID:19424739 20150504 RGD associated with Cholestasis 2687 Ghr growth hormone receptor gene DOID:11476 osteoporosis treatment IEP D RGD:10003128|PMID:17647196 20150504 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast 2687 Ghr growth hormone receptor gene DOID:12849 autistic disorder ISO RGD:69149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 2687 Ghr growth hormone receptor gene DOID:13533 osteopetrosis IEP D RGD:2307374|PMID:14632687 20090529 RGD protein:decreased expression:osteoclast 2687 Ghr growth hormone receptor gene DOID:13580 cholestasis ISO RGD:10644 D RGD:11567216|PMID:15604202 20161201 RGD mRNA,protein:decreased expression:liver, skeletal muscle: 2687 Ghr growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:7240710 20130221 OMIM 2687 Ghr growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 2687 Ghr growth hormone receptor gene DOID:1612 breast cancer ISO RGD:69149 D RGD:2301716|PMID:17287408 20081029 RGD protein:increased expression:serum:cases versus controls (p<0.01) (human) 2687 Ghr growth hormone receptor gene DOID:1826 epilepsy ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:10984309|PMID:25741868|PMID:28492532 2687 Ghr growth hormone receptor gene DOID:2962 Cockayne syndrome ISO RGD:10644 D RGD:10003139|PMID:17326724 20150504 RGD 2687 Ghr growth hormone receptor gene DOID:5353 colonic disease ISO RGD:69149 D RGD:10003142|PMID:19864451 20150518 RGD associated with Acromegaly;DNA:deletion:exon 2687 Ghr growth hormone receptor gene DOID:630 genetic disease ISO RGD:69149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2687 Ghr growth hormone receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69149 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2687 Ghr growth hormone receptor gene DOID:767 muscular atrophy IEP D RGD:151361116|PMID:14638460 20220223 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) 2687 Ghr growth hormone receptor gene DOID:767 muscular atrophy IEP D RGD:2307376|PMID:12865352 20090529 RGD mRNA:increased expression:soleus 2687 Ghr growth hormone receptor gene DOID:8398 osteoarthritis ISO RGD:69149 D RGD:10003113|PMID:23740230 20150501 RGD DNA:deletion:exon: 2687 Ghr growth hormone receptor gene DOID:8927 learning disability ISO RGD:10644 D RGD:11566045|PMID:22750159 20161130 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:prefrontal cortex: 2687 Ghr growth hormone receptor gene DOID:8927 learning disability ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:10984309|PMID:25741868|PMID:28492532 2687 Ghr growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2307378|PMID:12679928 20090529 RGD mRNA, protein:decreased expression:liver 2687 Ghr growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2687 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2307368|PMID:10990443 20090528 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney 2687 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies IMP D RGD:2307364|PMID:15066219 20090528 RGD associated with Diabetes Mellitus, Experimental 2687 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:10644 D RGD:2307370|PMID:10541297 20090529 RGD associated with Diabetes Mellitus 2687 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10644 D RGD:2307369|PMID:10614635 20090528 RGD associated with Diabetes Mellitus, Experimental 2687 Ghr growth hormone receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17220348 2687 Ghr growth hormone receptor gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2315620|PMID:19524466 20150519 RGD protein:increased expression:brain 2687 Ghr growth hormone receptor gene DOID:9004271 Colonic Polyps ISO RGD:69149 D RGD:10003142|PMID:19864451 20150518 RGD associated with Acromegaly;DNA:deletion:exon 2687 Ghr growth hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69149 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2687 Ghr growth hormone receptor gene DOID:9004484 Sepsis IEP D RGD:2307382|PMID:11126270 20090529 RGD 2687 Ghr growth hormone receptor gene DOID:9004552 Genu Varum ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genu varum PMID:10984309|PMID:25741868|PMID:28492532 2687 Ghr growth hormone receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 2687 Ghr growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11567222|PMID:7964296 20161201 RGD 2687 Ghr growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10644 D RGD:2307365|PMID:12529387 20090528 RGD 2687 Ghr growth hormone receptor gene DOID:9005930 Endotoxemia IEP D RGD:2307380|PMID:12654216 20090529 RGD mRNA:decreased expression:liver 2687 Ghr growth hormone receptor gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20170627 RGD 2687 Ghr growth hormone receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:69149 D RGD:10003142|PMID:19864451 20150504 RGD associated with Acromegaly;DNA:deletion:exon: 2687 Ghr growth hormone receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:10984309|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9814495 2687 Ghr growth hormone receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:69149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2687 Ghr growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:7240710 20130221 OMIM 2687 Ghr growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal PMID:10984309|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9814495 2687 Ghr growth hormone receptor gene DOID:9007661 Dwarfism ISO RGD:69149 D RGD:11565837|PMID:9373455 20161129 RGD protein:increased expression:CD20 positive lymphocyte: 2687 Ghr growth hormone receptor gene DOID:9007661 Dwarfism ISO RGD:69149 D RGD:11566044|PMID:9814495 20161130 RGD DNA:missense mutation:exon:p.V144I(human) 2687 Ghr growth hormone receptor gene DOID:9007661 Dwarfism ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature PMID:10984309|PMID:25741868|PMID:28492532 2687 Ghr growth hormone receptor gene DOID:9007661 Dwarfism treatment ISO RGD:69149 D RGD:11566042|PMID:22026923 20161130 RGD DNA:deletion:exon: 2687 Ghr growth hormone receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69149 D RGD:2307363|PMID:17537658 20090528 RGD DNA:deletion:exon (human) 2687 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:10644 D RGD:11565834|PMID:9371826 20161129 RGD 2687 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:11565835|PMID:25196842 20161129 RGD DNA:deletion:exon,intron: 2687 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:11567215|PMID:9024232 20161201 RGD DNA:nonsense, missense, deletion mutations:cds, splice junction: 2687 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:7240710 20130221 OMIM 2687 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect PMID:10084588|PMID:10984309|PMID:11395710|PMID:11468686|PMID:11785980|PMID:11836282|PMID:12181638|PMID:12217488|PMID:12423626|PMID:12679461|PMID:1284474|PMID:12910492|PMID:15001620|PMID:15055350|PMID:15536163|PMID:16213173|PMID:16381017|PMID:17148568|PMID:1719554|PMID:17405847|PMID:17462934|PMID:17547682|PMID:19344888|PMID:19447840|PMID:19815155|PMID:1999489|PMID:20962506|PMID:21525302|PMID:21846964|PMID:21900382|PMID:2233903|PMID:24150201|PMID:24335149|PMID:24664892|PMID:25411237|PMID:25741868|PMID:26467025|PMID:27408750|PMID:2779634|PMID:2813379|PMID:28492532|PMID:28498917|PMID:31690835|PMID:7565946|PMID:8137822|PMID:8421103|PMID:8450064|PMID:8488849|PMID:8504296|PMID:8521189|PMID:8626815|PMID:8664975|PMID:9360529|PMID:9467570|PMID:9626125|PMID:9661611|PMID:9661642|PMID:9814495|PMID:9851797 2687 Ghr growth hormone receptor gene DOID:9669 senile cataract ISO RGD:10644 D RGD:10003112|PMID:16129095 20150501 RGD 2687 Ghr growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:10644 D RGD:2307367|PMID:11469393 20090528 RGD mRNA, protein:decreased expression:kidney, liver 2687 Ghr growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:69149 D RGD:2307366|PMID:12054124 20090528 RGD 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:1601338|PMID:9845677 20070417 RGD DNA:deletion 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:734452 D RGD:1601337|PMID:8528260 20070417 RGD isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:734452 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:10084571|PMID:10566659|PMID:10944436|PMID:10946881|PMID:11232012|PMID:11298081|PMID:11443201|PMID:11502843|PMID:11875102|PMID:12163232|PMID:12181638|PMID:12414875|PMID:12444890|PMID:12788864|PMID:12794696|PMID:16199547|PMID:16284391|PMID:16355809|PMID:16522693|PMID:17356054|PMID:17911170|PMID:18297129|PMID:18785993|PMID:19622623|PMID:21044116|PMID:22489751|PMID:23052699|PMID:25153028|PMID:25541890|PMID:25741868|PMID:28492532|PMID:31231873|PMID:8528260|PMID:9467553|PMID:9814493 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:1923 disorder of sexual development ISO RGD:734452 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734452 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:535 sleep disorder IEP D RGD:728477|PMID:12161265 19990101 RGD mRNA:decreased expression:hypothalamus (rat) 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:630 genetic disease ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:10645 D RGD:2301422|PMID:15870705 20081013 RGD DNA:transition:cds:p.D60G (mouse) 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10401258|PMID:18285528 20151005 RGD 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:9007827 Upper Airway Obstruction IEP D RGD:5687169|PMID:21406516 20151005 RGD mRNA, protein:decreased expression:hypothalamus 2688 Ghrhr growth hormone releasing hormone receptor gene DOID:9008214 Genu Valgum ISO RGD:734452 D RGD:10401244|PMID:24057284 20151002 RGD DNA:mutation:intron:c.57+1G>A (human) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:10603 glucose intolerance ISO RGD:1557958 D RGD:737713|PMID:10611300 19990101 RGD 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:1287 cardiovascular system disease ISO RGD:732777 D RGD:2312618|PMID:17624916 20090825 RGD DNA:missense mutation:p.E354Q (human) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:732777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia IEP D RGD:2312603|PMID:17505054 20090824 RGD protein:decreased expression:pancreatic islet (rat) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:1557958 D RGD:737713|PMID:10611300 19990101 RGD 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:630 genetic disease ISO RGD:732777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:732777 D RGD:2306734|PMID:19211686 20090825 RGD 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312548|PMID:12789546 20090824 RGD mRNA:increased expression:retina (rat) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9007633 Body Weight ISO RGD:732777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9351 diabetes mellitus ISO RGD:732777 D RGD:2312617|PMID:15582721 20090828 RGD human gene, mouse model 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus IAGP D RGD:68929|PMID:11334402 20090825 RGD 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:732777 D RGD:2312454|PMID:19386626 20090824 RGD protein:decreased expression:pancreatic islet (human) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:1557958 D RGD:2312612|PMID:17971513 20090824 RGD mRNA:splice variant:pancreatic islet (mouse) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:2312615|PMID:19254363 20090825 RGD DNA:polymorphism:intron 1 C>A (rs2302382) (human) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:2312616|PMID:17395281 20090825 RGD mRNA:reduced expression:fat tissue (human) 2689 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity susceptibility ISO RGD:1557958 D RGD:737714|PMID:12068290 20090825 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10649 D RGD:265253172|PMID:27412010 20230418 RGD protein:decreased expression:cardiac ventricle (mouse) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:11352402|PMID:23178689 20180510 RGD protein:altered expression:ventricle 2690 Gja1 gap junction protein, alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:13592599|PMID:26850880 20180510 RGD protein:decreased expression:buccal mucosa 2690 Gja1 gap junction protein, alpha 1 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:736925 D RGD:11568612|PMID:25398053 20170612 RGD DNA:mutations:cds:p.E227D,p.A44V(human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0050865 tongue squamous cell carcinoma IEP D RGD:8662380|PMID:23568744 20140620 RGD protein:decreased expression:epithelium 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060224 atrial fibrillation IEP D RGD:7207850|PMID:11527649 20130208 RGD protein:increased localization:lateral plasma membrane, cardiac muscle cell 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:8662373|PMID:16953110 20140620 RGD associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:8662382|PMID:12062341 20140620 RGD protein:decreased expression:myocardium of atrium 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:10649 D RGD:12910123|PMID:21239638 20170612 RGD DNA:mutation:cds:p.G60S(mouse) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:10649 D RGD:12910132|PMID:18003637 20170613 RGD DNA:mutation:cd:p.G138R(mouse) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:10649 D RGD:8662372|PMID:16155213 20140620 RGD DNA:missense mutation:cds:p.G60S (mouse) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12457340|PMID:15879313|PMID:16155213|PMID:16211004|PMID:16378922|PMID:17420259|PMID:17509830|PMID:17687502|PMID:18003637|PMID:18077386|PMID:18660473|PMID:18946008|PMID:19725242 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:1578474|PMID:16219735 19990101 RGD DNA:missense mutation:cds:p.P59H (human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:7240710 20130221 OMIM 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia PMID:10331943|PMID:1057461|PMID:11470490|PMID:12457340|PMID:15108203|PMID:15192806|PMID:15551259|PMID:15637728|PMID:15879313|PMID:16531323|PMID:16709485|PMID:17256797|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19638688|PMID:21215473|PMID:21670345|PMID:22090377|PMID:220941|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23550541|PMID:24115525|PMID:25327171|PMID:25388818|PMID:25741868|PMID:27226478|PMID:28492532|PMID:30628995|PMID:32318302|PMID:34630166|PMID:4209752|PMID:7815444 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:8662375|PMID:12457340 20140620 RGD DNA:missense mutations, duplication:multiple (human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:8662400|PMID:15637728 20140623 RGD DNA:missense mutation: :p.H194P (human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:0070210 hereditary lymphedema IA ISO RGD:736925 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Edema of the dorsum of feet PMID:25741868 2690 Gja1 gap junction protein, alpha 1 gene DOID:0070355 overactive bladder syndrome IEP D RGD:7207474|PMID:17855776 20130205 RGD mRNA:increased expression:urinary bladder 2690 Gja1 gap junction protein, alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:7240710 20190315 OMIM 2690 Gja1 gap junction protein, alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 PMID:25398053|PMID:28492532|PMID:30628963|PMID:30631135 2690 Gja1 gap junction protein, alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:7240710 20130911 OMIM 2690 Gja1 gap junction protein, alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive PMID:11146471|PMID:23951358|PMID:25741868|PMID:28492532 2690 Gja1 gap junction protein, alpha 1 gene DOID:0080855 Parkinsonism treatment IDA D RGD:8662444|PMID:23783886 20140624 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:7240710 20171011 OMIM 2690 Gja1 gap junction protein, alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia PMID:12457340|PMID:15879313|PMID:25168385|PMID:25327171|PMID:25741868|PMID:28492532|PMID:30628995 2690 Gja1 gap junction protein, alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:7240710 20130221 OMIM 2690 Gja1 gap junction protein, alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 3 PMID:11470490|PMID:14729836|PMID:15192806|PMID:18079109|PMID:21215473|PMID:2157843|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 2690 Gja1 gap junction protein, alpha 1 gene DOID:0111819 syndactyly type 5 ISO RGD:736925 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 2690 Gja1 gap junction protein, alpha 1 gene DOID:10629 microphthalmia ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos PMID:25741868 2690 Gja1 gap junction protein, alpha 1 gene DOID:10763 hypertension IEP D RGD:7207810|PMID:16448880 20130206 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:10763 hypertension ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 2690 Gja1 gap junction protein, alpha 1 gene DOID:10763 hypertension treatment IEP D RGD:8662439|PMID:23719203 20140624 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:10914 amnestic disorder IMP D RGD:7207267|PMID:22665389 20130128 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:11193 syndactyly ISO RGD:736925 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 2690 Gja1 gap junction protein, alpha 1 gene DOID:11832 visual epilepsy IEP D RGD:1299355|PMID:14622215 20130208 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:12577 urethral obstruction IEP D RGD:11568666|PMID:11900482 20161209 RGD mRNA,protein:increased expression:smooth muscle cell: 2690 Gja1 gap junction protein, alpha 1 gene DOID:12849 autistic disorder ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 2690 Gja1 gap junction protein, alpha 1 gene DOID:12858 Huntington's disease ISO RGD:736925 D RGD:7207854|PMID:10873295 20130208 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:12930 dilated cardiomyopathy IEP D RGD:264347602|PMID:26708424 20230418 RGD protein:decreased expression:heart (rat) 2690 Gja1 gap junction protein, alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736925 D RGD:1582667|PMID:12619876 20061116 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:1591 renovascular hypertension IEP D RGD:7207851|PMID:11422751 20130208 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:1826 epilepsy ISO RGD:736925 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2690 Gja1 gap junction protein, alpha 1 gene DOID:1875 impotence IEP D RGD:8662385|PMID:17146929 20140620 RGD mRNA, protein:decreased expression:corpus cavernosum penis 2690 Gja1 gap junction protein, alpha 1 gene DOID:224 transient cerebral ischemia IEP D RGD:8662426|PMID:23328809 20140624 RGD protein:increased expression:brain 2690 Gja1 gap junction protein, alpha 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10649 D RGD:7207263|PMID:22812228 20130128 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:2316 brain ischemia IEP D RGD:6480433|PMID:21718970 20120322 RGD protein:increased expression:cerebral cortex 2690 Gja1 gap junction protein, alpha 1 gene DOID:3070 high grade glioma IMP D RGD:7207264|PMID:22808518 20130128 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:326 ischemia IEP D RGD:11568671|PMID:24728265 20161209 RGD protein:increased expression:urothelium: 2690 Gja1 gap junction protein, alpha 1 gene DOID:3362 coronary aneurysm ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 2690 Gja1 gap junction protein, alpha 1 gene DOID:3390 palmoplantar keratosis ISO RGD:736925 D RGD:12910125|PMID:25168385 20170612 RGD DNA:mutation:cds:c.23G>A,p.G8V(human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:5154 borna disease IEP D RGD:7364785|PMID:18538309 20130927 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:5844 myocardial infarction IEP D RGD:7207261|PMID:22969867 20130128 RGD protein:decreased phosphorylation 2690 Gja1 gap junction protein, alpha 1 gene DOID:5844 myocardial infarction IMP D RGD:7207262|PMID:22841862 20130128 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:5844 myocardial infarction treatment IEP D RGD:13592597|PMID:29428663 20180509 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:630 genetic disease ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11146276|PMID:12861055|PMID:15879313|PMID:22214631|PMID:25741868|PMID:26087145|PMID:28492532|PMID:8576861|PMID:8970160 2690 Gja1 gap junction protein, alpha 1 gene DOID:6419 tetralogy of Fallot ISO RGD:736925 D RGD:1582666|PMID:16010294 20061116 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:6432 pulmonary hypertension IEP D RGD:7207411|PMID:21414209 20130201 RGD mRNA:increased expression:pulmonary artery 2690 Gja1 gap junction protein, alpha 1 gene DOID:6432 pulmonary hypertension treatment IEP D RGD:8662411|PMID:23321332 20140623 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:657 adenoma ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 2690 Gja1 gap junction protein, alpha 1 gene DOID:7188 autoimmune thyroiditis IEP D RGD:7349390|PMID:8770903 20130930 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: 2690 Gja1 gap junction protein, alpha 1 gene DOID:784 chronic kidney disease ISO RGD:736925 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32045570 2690 Gja1 gap junction protein, alpha 1 gene DOID:820 myocarditis ISO RGD:736925 D RGD:1582667|PMID:12619876 20061116 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:8662460|PMID:24183749 20140624 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:8662431|PMID:23403365 20140624 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18003637|PMID:18077386 2690 Gja1 gap junction protein, alpha 1 gene DOID:9000064 Cardiac Arrhythmias treatment IEP D RGD:8662422|PMID:23951191 20140623 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736925 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 2690 Gja1 gap junction protein, alpha 1 gene DOID:9000998 Brain Injuries treatment IEP D RGD:8662424|PMID:23485053 20140623 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2690 Gja1 gap junction protein, alpha 1 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:7207423|PMID:19077877 20130201 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9002211 Hyperalgesia IEP D RGD:8662456|PMID:23374942 20140624 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:736925 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34286406 2690 Gja1 gap junction protein, alpha 1 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:8662447|PMID:24631560 20140624 RGD associated with Sciatic Neuropathy 2690 Gja1 gap junction protein, alpha 1 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:10649 D RGD:13592598|PMID:27899284 20180510 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2690 Gja1 gap junction protein, alpha 1 gene DOID:9002457 Experimental Arthritis IMP D RGD:7207259|PMID:23165424 20130128 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:8662459|PMID:23906405 20140624 RGD protein:decreased expression:myocardium 2690 Gja1 gap junction protein, alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 2690 Gja1 gap junction protein, alpha 1 gene DOID:9004538 Hearing Loss no_association ISO RGD:736925 D RGD:8662384|PMID:12791041 20140620 RGD DNA:polymorphisms 2690 Gja1 gap junction protein, alpha 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:8662452|PMID:23576849 20140624 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:7240710 20200826 OMIM 2690 Gja1 gap junction protein, alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:11146471|PMID:11470490|PMID:12457340|PMID:14729836|PMID:14974090|PMID:14981729|PMID:15192806|PMID:15879313|PMID:16531323|PMID:16813608|PMID:16816024|PMID:17509830|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19615768|PMID:21215473|PMID:21670345|PMID:22090377|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23606748|PMID:23951358|PMID:24115525|PMID:24508941|PMID:25327171|PMID:25388818|PMID:25398053|PMID:25741868|PMID:26537360|PMID:27226478|PMID:28492532|PMID:29927410|PMID:30628963|PMID:30628995|PMID:30631135|PMID:30653986|PMID:30811667|PMID:32318302|PMID:32449269|PMID:34630166 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15166089|PMID:16926031 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7207269|PMID:22455314 20130128 RGD protein:increased expression:dermis 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7364887|PMID:22110070 20131007 RGD protein:altered expression:retina: 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10649 D RGD:8662383|PMID:20130277 20140620 RGD protein:decreased expression:retina, blood vessel 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7207415|PMID:20609064 20130201 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005856 Basaran Yilmaz Syndrome ISO RGD:736925 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 2690 Gja1 gap junction protein, alpha 1 gene DOID:9005968 Neuralgia ISO RGD:10649 D RGD:7364890|PMID:22951907 20131008 RGD associated with Spinal Cord Injuries; 2690 Gja1 gap junction protein, alpha 1 gene DOID:9007136 Atrioventricular Septal Defect 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 3 PMID:11470490|PMID:22090377|PMID:25741868|PMID:28492532|PMID:30653986 2690 Gja1 gap junction protein, alpha 1 gene DOID:9007292 Schwartz-Lelek Syndrome ISO RGD:736925 D RGD:8662399|PMID:23951358 20140623 RGD DNA:missense mutation: :c.716G>A (p.R239Q) (human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17445419 2690 Gja1 gap junction protein, alpha 1 gene DOID:9007840 Chylothorax ISO RGD:10649 D RGD:13592598|PMID:27899284 20180510 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9007925 Sudden Cardiac Death treatment ISO RGD:10649 D RGD:12910124|PMID:22093512 20170612 RGD 2690 Gja1 gap junction protein, alpha 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:736925 D RGD:1578475|PMID:11741837 19990101 RGD DNA:mutations:cds:c.30C>T,c.71T>G(human) 2690 Gja1 gap junction protein, alpha 1 gene DOID:9008212 Diabetic Foot ISO RGD:736925 D RGD:7207269|PMID:22455314 20130128 RGD protein:increased expression:dermis 2690 Gja1 gap junction protein, alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736925 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 2690 Gja1 gap junction protein, alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16292552|PMID:16720372 2690 Gja1 gap junction protein, alpha 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:11470490|PMID:15192806|PMID:18079109|PMID:21215473|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 2690 Gja1 gap junction protein, alpha 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7207393|PMID:21573906 20130130 RGD protein:increased phosphorylation:kidney 2690 Gja1 gap junction protein, alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 2690 Gja1 gap junction protein, alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:1582668|PMID:11470490 20061116 RGD 2691 Gja4 gap junction protein, alpha 4 gene DOID:0001816 angiosarcoma ISO RGD:731518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 2691 Gja4 gap junction protein, alpha 4 gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous venous malformation PMID:33912852 2691 Gja4 gap junction protein, alpha 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731518 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2691 Gja4 gap junction protein, alpha 4 gene DOID:10763 hypertension ISO RGD:731518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 2691 Gja4 gap junction protein, alpha 4 gene DOID:271 hemangioma of liver ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatic hemangioma PMID:33912852 2691 Gja4 gap junction protein, alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:1626412|PMID:15059615 20070807 RGD 2691 Gja4 gap junction protein, alpha 4 gene DOID:471 skin hemangioma ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin hemangioma PMID:33912852 2691 Gja4 gap junction protein, alpha 4 gene DOID:5199 ureteral obstruction IEP D RGD:7207847|PMID:12644912 20130927 RGD mRNA:increased expression:kidney: 2691 Gja4 gap junction protein, alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:1580400|PMID:15982495 19990101 RGD 2691 Gja4 gap junction protein, alpha 4 gene DOID:630 genetic disease ISO RGD:731518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2691 Gja4 gap junction protein, alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2692 Gja5 gap junction protein, alpha 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:12522116|PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060041 autism spectrum disorder ISO RGD:736164 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:1580393|PMID:16790700 19990101 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:7207850|PMID:11527649 20130208 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, somatic PMID:16790700 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:736164 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:736164 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 2692 Gja5 gap junction protein, alpha 5 gene DOID:0070355 overactive bladder syndrome IEP D RGD:7207474|PMID:17855776 20130205 RGD mRNA:increased expression:urinary bladder 2692 Gja5 gap junction protein, alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:7240710 20130918 OMIM 2692 Gja5 gap junction protein, alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial standstill 1 PMID:16790700|PMID:21921585|PMID:22199024|PMID:22713807|PMID:22912587|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25205790|PMID:25741868|PMID:26137477|PMID:26279651|PMID:26503720|PMID:27930557|PMID:28074886|PMID:28398664|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 2692 Gja5 gap junction protein, alpha 5 gene DOID:0110231 cataract 1 multiple types ISO RGD:736164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:10763 hypertension IEP D RGD:7207848|PMID:11821709 20130208 RGD protein:decreased expression:artery endothelium 2692 Gja5 gap junction protein, alpha 5 gene DOID:10763 hypertension ISO RGD:736164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19109587 2692 Gja5 gap junction protein, alpha 5 gene DOID:10763 hypertension treatment IDA D RGD:7207417|PMID:19686729 20130201 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736164 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2692 Gja5 gap junction protein, alpha 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:736164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:1540 parathyroid carcinoma ISO RGD:736164 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:1591 renovascular hypertension IEP D RGD:7207851|PMID:11422751 20130208 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:2921 glomerulonephritis IEP D RGD:7207390|PMID:22945766 20130130 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736164 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 2692 Gja5 gap junction protein, alpha 5 gene DOID:5199 ureteral obstruction IEP D RGD:7207847|PMID:12644912 20130208 RGD mRNA:increased expression:kidney 2692 Gja5 gap junction protein, alpha 5 gene DOID:5419 schizophrenia ISO RGD:736164 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2692 Gja5 gap junction protein, alpha 5 gene DOID:5844 myocardial infarction treatment IEP D RGD:13592597|PMID:29428663 20180509 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:630 genetic disease ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736164 D RGD:7207464|PMID:22199024 20130205 RGD DNA:duplications 2692 Gja5 gap junction protein, alpha 5 gene DOID:6419 tetralogy of Fallot ISS RGD:736165 D RGD:13592920 20180518 MouseDO OMIM:187500 2692 Gja5 gap junction protein, alpha 5 gene DOID:9000998 Brain Injuries IEP D RGD:7207391|PMID:21895483 20130130 RGD protein:increased expression:cerebral artery 2692 Gja5 gap junction protein, alpha 5 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:7207423|PMID:19077877 20130201 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736164 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2692 Gja5 gap junction protein, alpha 5 gene DOID:9004484 Sepsis IEP D RGD:7207815|PMID:15942348 20130206 RGD mRNA, protein:increased expression:aorta endothelium 2692 Gja5 gap junction protein, alpha 5 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7207415|PMID:20609064 20130201 RGD 2692 Gja5 gap junction protein, alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:7240710 20140903 OMIM 2692 Gja5 gap junction protein, alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 11 PMID:16790700|PMID:20818502|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25741868|PMID:26503720|PMID:28074886|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 2692 Gja5 gap junction protein, alpha 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736164 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2692 Gja5 gap junction protein, alpha 5 gene DOID:9970 obesity IEP D RGD:7207466|PMID:18324386 20130205 RGD mRNA, protein:decreased expression:mesenteric artery 2694 Gjd2 gap junction protein, delta 2 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:733205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 2694 Gjd2 gap junction protein, delta 2 gene DOID:11830 myopia ISO RGD:733205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 2694 Gjd2 gap junction protein, delta 2 gene DOID:2717 Bloom syndrome ISO RGD:733205 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2694 Gjd2 gap junction protein, delta 2 gene DOID:630 genetic disease ISO RGD:733205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2694 Gjd2 gap junction protein, delta 2 gene DOID:9004756 Brain Hypoxia IEP D RGD:7364784|PMID:20034754 20130927 RGD 2694 Gjd2 gap junction protein, delta 2 gene DOID:9256 colorectal cancer ISO RGD:733205 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2694 Gjd2 gap junction protein, delta 2 gene DOID:9835 refractive error ISO RGD:733205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:11097171|PMID:10798362 20170124 RGD DNA:missense mutation:exon:p.R42P (125G>C) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:11251416|PMID:25556823 20170126 RGD DNA:missense mutation:exon:p.T202N (c.605C>A) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9843209 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:12050153|PMID:10594760 20170123 RGD DNA:missense mutation:cds:p.R42P (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:12436729|PMID:9843209 20170124 RGD DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:12436731|PMID:15948974 20170124 RGD DNA:missense mutation:exon:p.L209F (625C>T) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:12436734|PMID:21188847 20170124 RGD DNA:missense mutation:exon:p.L135V (c.403C>G) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:12437067|PMID:22681493 20170126 RGD DNA:missense mutation:exon:p.G45E (c.134G>A)(human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:1578480|PMID:16297190 19990101 RGD DNA:missense mutations:cds:p.G12D, p.L209F (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28492532 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10587579 2695 Gjb3 gap junction protein, beta 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1347813 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs9118) C>G (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347813 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2695 Gjb3 gap junction protein, beta 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1347813 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2695 Gjb3 gap junction protein, beta 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532 2695 Gjb3 gap junction protein, beta 3 gene DOID:0110559 autosomal dominant nonsyndromic deafness 2B ISO RGD:1347813 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2695 Gjb3 gap junction protein, beta 3 gene DOID:0110559 autosomal dominant nonsyndromic deafness 2B ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 2b PMID:16077902|PMID:19050930|PMID:21204020|PMID:23638949|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 2695 Gjb3 gap junction protein, beta 3 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:10587579|PMID:10594760|PMID:10798362|PMID:10888284|PMID:11175305|PMID:12019212|PMID:12165562|PMID:12648223|PMID:12702148|PMID:15131355|PMID:17567887|PMID:19050930|PMID:19755382|PMID:20981092|PMID:22617145|PMID:24033266|PMID:24498627|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27884173|PMID:28492532|PMID:9843209|PMID:9843210 2695 Gjb3 gap junction protein, beta 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1347813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11309368 2695 Gjb3 gap junction protein, beta 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474 2695 Gjb3 gap junction protein, beta 3 gene DOID:37 skin disease ISO RGD:1347813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16372802 2695 Gjb3 gap junction protein, beta 3 gene DOID:3891 placental insufficiency ISO RGD:735535 D RGD:12436730|PMID:11237463 20170124 RGD 2695 Gjb3 gap junction protein, beta 3 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1347813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 2695 Gjb3 gap junction protein, beta 3 gene DOID:574 peripheral nervous system disease ISO RGD:1347813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11309368 2695 Gjb3 gap junction protein, beta 3 gene DOID:630 genetic disease ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 2695 Gjb3 gap junction protein, beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:12050155|PMID:12019212 20170124 RGD DNA:missense mutation:CDS:p.L34P (101T>C) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:12436733|PMID:21564177 20170124 RGD DNA:missense mutation:exon:p.V30I (c.G88A) (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:9004538 Hearing Loss ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474 2695 Gjb3 gap junction protein, beta 3 gene DOID:9005662 Keratoderma Palmoplantaris Transgrediens ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 2695 Gjb3 gap junction protein, beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1347813 D RGD:1300214|PMID:9843210 19990101 RGD DNA:nonsense mutation, missense mutation:cds:p.A180X, p.Q183K (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1347813 D RGD:7364900|PMID:19050930 20131008 RGD DNA:missense mutations:cds:p.N166S, p.A194T (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1347813 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 2695 Gjb3 gap junction protein, beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1347813 D RGD:12050154|PMID:15276679 20170123 RGD DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human) 2695 Gjb3 gap junction protein, beta 3 gene DOID:9008681 Deafness ISO RGD:1347813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9843210 2696 Gjb5 gap junction protein, beta 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732046 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2696 Gjb5 gap junction protein, beta 5 gene DOID:630 genetic disease ISO RGD:732046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2696 Gjb5 gap junction protein, beta 5 gene DOID:9004464 Skin Neoplasms ISO RGD:732046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 2702 Glo1 glyoxalase 1 gene DOID:12849 autistic disorder ISO RGD:1350387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15386471 2702 Glo1 glyoxalase 1 gene DOID:12849 autistic disorder ISO RGD:1350387 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Autism 1 PMID:15386471|PMID:17722011|PMID:18721844 2702 Glo1 glyoxalase 1 gene DOID:12849 autistic disorder resistance ISO RGD:1350387 D RGD:7242568|PMID:17346350 20130415 RGD DNA:SNP: :419C>A (human) 2702 Glo1 glyoxalase 1 gene DOID:1596 depressive disorder ISO RGD:1350387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 2702 Glo1 glyoxalase 1 gene DOID:178 vascular disease ISO RGD:1350387 D RGD:7242571|PMID:18079478 20130415 RGD DNA:SNP: :419C>A (human) 2702 Glo1 glyoxalase 1 gene DOID:1909 melanoma ISO RGD:1350387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20093988 2702 Glo1 glyoxalase 1 gene DOID:2030 anxiety disorder ISO RGD:1350387 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 2702 Glo1 glyoxalase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350387 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2702 Glo1 glyoxalase 1 gene DOID:630 genetic disease ISO RGD:1350387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2702 Glo1 glyoxalase 1 gene DOID:783 end stage renal disease severity ISO RGD:1350387 D RGD:7242570|PMID:20185929 20130415 RGD DNA:SNP: :419C>A (human) 2702 Glo1 glyoxalase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1350387 D RGD:9068941 20220825 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 2702 Glo1 glyoxalase 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1350387 D RGD:7242569|PMID:21738003 20130415 RGD DNA:SNP:promoter:-7C>T (human) 2702 Glo1 glyoxalase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 2702 Glo1 glyoxalase 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1350387 D RGD:7242569|PMID:21738003 20130415 RGD DNA:SNP:promoter:-7C>T (human) 2702 Glo1 glyoxalase 1 gene DOID:9002661 Diabetes Complications no_association ISO RGD:1350387 D RGD:7242569|PMID:21738003 20130415 RGD DNA:SNP: :419C>A (human) 2702 Glo1 glyoxalase 1 gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:7242566|PMID:19211689 20130415 RGD 2702 Glo1 glyoxalase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350387 D RGD:7242567|PMID:18413187 20130415 RGD DNA:point mutation: :c.332A>C (human) 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:10603 glucose intolerance susceptibility ISO RGD:10655 D RGD:1624349|PMID:8898756 20070509 RGD 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:10763 hypertension IDA D RGD:625448|PMID:12093887 19990101 RGD 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:736638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:736638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:1824 status epilepticus ISO RGD:10655 D RGD:1598440|PMID:12925848 20120827 RGD 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:4195 hyperglycemia IDA D RGD:1624350|PMID:15879053 20070509 RGD 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:630 genetic disease ISO RGD:736638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:9002221 Hyperplasia ISO RGD:736638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1624356|PMID:10580413 20070510 RGD 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:9351 diabetes mellitus TAS D RGD:625448|PMID:12093887 19990101 RGD 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736638 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 2703 Glp1r glucagon-like peptide 1 receptor gene DOID:9970 obesity IEP D RGD:1624351|PMID:15279492 20070509 RGD mRNA:decreased expression:hypothalamus medial zone 2704 Glra1 glycine receptor, alpha 1 gene DOID:0060695 hyperekplexia ISO RGD:730939 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Hyperekplexia 2704 Glra1 glycine receptor, alpha 1 gene DOID:0060695 hyperekplexia ISS RGD:730940 D RGD:13592920 20201210 MouseDO 2704 Glra1 glycine receptor, alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:7240710 20180117 OMIM 2704 Glra1 glycine receptor, alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:10817489|PMID:11389164|PMID:11702206|PMID:11781706|PMID:11973623|PMID:12746425|PMID:1334371|PMID:15771552|PMID:16078201|PMID:16236274|PMID:16832093|PMID:17536053|PMID:18043720|PMID:19073849|PMID:20631190|PMID:22264702|PMID:24033266|PMID:24108130|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:28879899|PMID:28985719|PMID:7518444|PMID:7611730|PMID:7874121|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8571969|PMID:8651283|PMID:8733061|PMID:9009272|PMID:9067762|PMID:9920650 2704 Glra1 glycine receptor, alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2704 Glra1 glycine receptor, alpha 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:730939 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9927632|PMID:18175347 2704 Glra1 glycine receptor, alpha 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:730939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperekplexia PMID:10514101|PMID:10817489|PMID:11389164|PMID:11702206|PMID:12169101|PMID:12746425|PMID:1334371|PMID:15365143|PMID:15771552|PMID:16078201|PMID:16199547|PMID:16236274|PMID:16941485|PMID:17536053|PMID:17576681|PMID:19073849|PMID:19732286|PMID:20631190|PMID:22532536|PMID:24033266|PMID:24108130|PMID:25036534|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28174298|PMID:28492532|PMID:28617419|PMID:28985719|PMID:30078784|PMID:30182260|PMID:30866851|PMID:32695065|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061|PMID:9009272|PMID:9536098 2704 Glra1 glycine receptor, alpha 1 gene DOID:543 dystonia ISO RGD:730939 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism PMID:17114051 2704 Glra1 glycine receptor, alpha 1 gene DOID:630 genetic disease ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20631190|PMID:25741868|PMID:28174298|PMID:28492532 2704 Glra1 glycine receptor, alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2704 Glra1 glycine receptor, alpha 1 gene DOID:9007722 Myoclonus ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sleep myoclonus PMID:1334371|PMID:25741868|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061 2705 Glra2 glycine receptor, alpha 2 gene DOID:12849 autistic disorder ISO RGD:731909 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2705 Glra2 glycine receptor, alpha 2 gene DOID:630 genetic disease ISO RGD:731909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2705 Glra2 glycine receptor, alpha 2 gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:731909 D RGD:7240710 20220427 OMIM 2705 Glra2 glycine receptor, alpha 2 gene DOID:9001972 Syndromic X-Linked Intellectual Disability Pilorge type ISO RGD:731909 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:26370147|PMID:28588452|PMID:35294868 2705 Glra2 glycine receptor, alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731909 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2706 Glrb glycine receptor, beta gene DOID:0060695 hyperekplexia ISO RGD:731361 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Hyperekplexia 2706 Glrb glycine receptor, beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:7240710 20140911 OMIM 2706 Glrb glycine receptor, beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 2 PMID:11929858|PMID:16199547|PMID:17576681|PMID:21391991|PMID:22532536|PMID:23182654|PMID:23184146|PMID:25640679|PMID:25741868|PMID:28492532|PMID:32911248|PMID:33323420|PMID:9536098 2706 Glrb glycine receptor, beta gene DOID:13366 Stiff-Person syndrome ISO RGD:731361 D RGD:11554173 20191231 CTD CTD Direct Evidence: marker/mechanism 2706 Glrb glycine receptor, beta gene DOID:630 genetic disease ISO RGD:731361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23184146|PMID:28492532 2707 Gls glutaminase gene DOID:0111944 immunodeficiency 31B ISO RGD:736636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 2707 Gls glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:7240710 20190315 OMIM 2707 Gls glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 PMID:25741868|PMID:30575854 2707 Gls glutaminase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736636 D RGD:152995523|PMID:29885404 20220628 RGD protein:increased expression:lung (human) 2707 Gls glutaminase gene DOID:630 genetic disease ISO RGD:736636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2707 Gls glutaminase gene DOID:8398 osteoarthritis ISO RGD:736636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 2707 Gls glutaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2707 Gls glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:7240710 20190315 OMIM 2707 Gls glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development PMID:25741868|PMID:30239721 2707 Gls glutaminase gene DOID:9003281 Spontaneous Abortions ISO RGD:736636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2707 Gls glutaminase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736636 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2707 Gls glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:7240710 20190821 OMIM 2707 Gls glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine 2707 Gls glutaminase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736636 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 2708 Glud1 glutamate dehydrogenase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 2708 Glud1 glutamate dehydrogenase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:733213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868 2708 Glud1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:7240710 20130221 OMIM 2708 Glud1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:10636977|PMID:10871207|PMID:11214910|PMID:17576681|PMID:18414213|PMID:19690084|PMID:22730017|PMID:23506826|PMID:25741868|PMID:26467025|PMID:26759084|PMID:26839063|PMID:27188453|PMID:28492532|PMID:30252420|PMID:30306091|PMID:30425915|PMID:31119523|PMID:34992182|PMID:35951311|PMID:9469993|PMID:9536098|PMID:9571225|PMID:9571255|PMID:9843361 2708 Glud1 glutamate dehydrogenase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733213 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 2708 Glud1 glutamate dehydrogenase 1 gene DOID:1059 intellectual disability ISO RGD:733213 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2708 Glud1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:6484555|PMID:16341942 20120625 RGD protein:increased expression:brain 2708 Glud1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:6484556|PMID:16298240 20120625 RGD protein:increased expression, decreased oxidation:brain 2708 Glud1 glutamate dehydrogenase 1 gene DOID:11832 visual epilepsy IEP D RGD:6484589|PMID:11240587 20120626 RGD 2708 Glud1 glutamate dehydrogenase 1 gene DOID:13413 hepatic encephalopathy IEP D RGD:6484661|PMID:2903433 20120628 RGD mRNA:decreased expression:brain 2708 Glud1 glutamate dehydrogenase 1 gene DOID:1825 childhood absence epilepsy IEP D RGD:6484590|PMID:10975907 20120626 RGD protein:increased expression:thalamus 2708 Glud1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:1551567 D RGD:6484656|PMID:20670938 20120627 RGD 2708 Glud1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:733213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9571255 2708 Glud1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:733213 D RGD:1601353|PMID:10636977 20070417 RGD familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A 2708 Glud1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:733213 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:26467025|PMID:28492532 2708 Glud1 glutamate dehydrogenase 1 gene DOID:2316 brain ischemia IEP D RGD:6484655|PMID:7808037 20120627 RGD protein:decreased activity:brain 2708 Glud1 glutamate dehydrogenase 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:6484554|PMID:18381650 20120625 RGD 2708 Glud1 glutamate dehydrogenase 1 gene DOID:3613 Canavan disease ISO RGD:1551567 D RGD:6484588|PMID:15016427 20120626 RGD protein:decreased expression:cerebellum, brain stem 2708 Glud1 glutamate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 2708 Glud1 glutamate dehydrogenase 1 gene DOID:885 fascioliasis IEP D RGD:6484593|PMID:10431747 20120626 RGD protein:increased expression:serum 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:733213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19500843 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1551567 D RGD:6484657|PMID:9145307 20120627 RGD mRNA, protein:decreased expression:spinal cord 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:6484655|PMID:7808037 20120627 RGD protein:decreased activity:brain 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733213 D RGD:1302513|PMID:9571255 19990101 RGD 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733213 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33483742 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9008972 Hyperammonemia ISO RGD:733213 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9571255 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9351 diabetes mellitus ISO RGD:733213 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 2708 Glud1 glutamate dehydrogenase 1 gene DOID:9993 hypoglycemia ISO RGD:733213 D RGD:1601353|PMID:10636977 20070417 RGD familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A 2709 Gip gastric inhibitory polypeptide gene DOID:11465 autonomic nervous system disease ISO RGD:1353884 D RGD:2312592|PMID:18376350 20090824 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) 2709 Gip gastric inhibitory polypeptide gene DOID:11612 polycystic ovary syndrome ISO RGD:1353884 D RGD:2312588|PMID:19375579 20090824 RGD associated with Obesity; protein:increased expression:plasma (human) 2709 Gip gastric inhibitory polypeptide gene DOID:1459 hypothyroidism IEP D RGD:2312549|PMID:9030821 20090821 RGD protein:increased expression:plasma (rat) 2709 Gip gastric inhibitory polypeptide gene DOID:2018 hyperinsulinism IEP D RGD:2312550|PMID:8059006 20090821 RGD protein:decreased expression:plasma (rat) 2709 Gip gastric inhibitory polypeptide gene DOID:26 pancreas disease IEP D RGD:2312553|PMID:3892654 20090821 RGD protein:increased expression:plasma (rat) 2709 Gip gastric inhibitory polypeptide gene DOID:4195 hyperglycemia ISO RGD:1353884 D RGD:2312590|PMID:19174495 20090824 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) 2709 Gip gastric inhibitory polypeptide gene DOID:630 genetic disease ISO RGD:1353884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2709 Gip gastric inhibitory polypeptide gene DOID:9001109 Anorexia ISO RGD:1353884 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:28633506|PMID:28666375|PMID:29689362 2709 Gip gastric inhibitory polypeptide gene DOID:9005587 Starvation IEP D RGD:2312554|PMID:6140913 20090821 RGD protein:increased expression:duodenum, jejunum (rat) 2709 Gip gastric inhibitory polypeptide gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312548|PMID:12789546 20090821 RGD mRNA:increased expression:retina (rat) 2709 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2312529|PMID:19056762 20090824 RGD 2709 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:2312587|PMID:19473824 20090824 RGD 2709 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:2312591|PMID:19126188 20090824 RGD disease in rat treated with human protein 2709 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552008 D RGD:2312589|PMID:18937625 20090824 RGD 2709 Gip gastric inhibitory polypeptide gene DOID:9970 obesity IEP D RGD:2312547|PMID:18063845 20090821 RGD protein:increased expression:plasma (rat) 2709 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:2312551|PMID:3546047 20090821 RGD 2709 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:2312588|PMID:19375579 20090824 RGD associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human) 2710 Glul glutamate-ammonia ligase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 2710 Glul glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:2301427|PMID:12160938 20081014 RGD protein:increased oxidation:brain (human) 2710 Glul glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:2301429|PMID:1361232 20081014 RGD protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders (human) 2710 Glul glutamate-ammonia ligase gene DOID:11832 visual epilepsy IDA D RGD:10047087|PMID:21935729 20150708 RGD 2710 Glul glutamate-ammonia ligase gene DOID:12858 Huntington's disease ISO RGD:730955 D RGD:10046047|PMID:6237280 20150710 RGD 2710 Glul glutamate-ammonia ligase gene DOID:12858 Huntington's disease ISO RGD:730955 D RGD:13524508|PMID:3159462 20180411 RGD 2710 Glul glutamate-ammonia ligase gene DOID:13413 hepatic encephalopathy ISO RGD:730955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 2710 Glul glutamate-ammonia ligase gene DOID:1540 parathyroid carcinoma ISO RGD:730955 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2710 Glul glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy IDA D RGD:2301554|PMID:18669513 20081023 RGD inhibition results in recurrent seizures 2710 Glul glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:730955 D RGD:2301555|PMID:14723991 20081023 RGD protein:decreased expression, decreased activity:hippocampus (human) 2710 Glul glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISS RGD:736181 D RGD:13592920 20190418 MouseDO 2710 Glul glutamate-ammonia ligase gene DOID:5419 schizophrenia ISO RGD:730955 D RGD:2301556|PMID:18562176 20081023 RGD protein:decreased expression:superior temporal gyrus, anterior cingulate cortex (human) 2710 Glul glutamate-ammonia ligase gene DOID:630 genetic disease ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2710 Glul glutamate-ammonia ligase gene DOID:684 hepatocellular carcinoma ISO RGD:730955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 2710 Glul glutamate-ammonia ligase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764 2710 Glul glutamate-ammonia ligase gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:730955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16267323 2710 Glul glutamate-ammonia ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:730955 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 2710 Glul glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16267323 2710 Glul glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:7240710 20130731 OMIM 2710 Glul glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic PMID:16267323|PMID:17576681|PMID:21353613|PMID:25741868|PMID:27775558|PMID:28492532|PMID:33150193|PMID:9536098 2710 Glul glutamate-ammonia ligase gene DOID:9008394 Drug-Induced Dyskinesia IDA D RGD:10047091|PMID:6445277 20150708 RGD 2710 Glul glutamate-ammonia ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730955 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2710 Glul glutamate-ammonia ligase gene DOID:9970 obesity IDA D RGD:2301479|PMID:15481771 20081017 RGD protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats 2710 Glul glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:730955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:731478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:1059 intellectual disability ISO RGD:731478 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:731478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:12177 common variable immunodeficiency ISO RGD:731478 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:2729 dyskeratosis congenita ISO RGD:731478 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:731478 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:6000 congestive heart failure severity ISO RGD:731478 D RGD:2313624|PMID:18778861 20091005 RGD protein:decreased expression:skeletal muscle 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:630 genetic disease ISO RGD:731478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:6432 pulmonary hypertension IEP D RGD:2313622|PMID:19043358 20091005 RGD 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9003936 Cardiomegaly ISO RGD:731478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22221582 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313621|PMID:19252289 20091005 RGD 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11947963|PMID:14563825|PMID:18266981|PMID:22138235 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11947963 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:2313624|PMID:18778861 20091005 RGD associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:12879857|PMID:10336852 20170427 RGD 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731478 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11947963|PMID:17107852|PMID:22384078|PMID:31626838 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731478 D RGD:1625188|PMID:1918382 20070528 RGD DNA:point mutation:exon:p.V383I (human) 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731478 D RGD:8554872 20140708 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 2711 Slc2a4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731479 D RGD:2313625|PMID:18653321 20091005 RGD 2713 Gnai1 G protein subunit alpha i1 gene DOID:0060001 withdrawal disorder ISO RGD:730824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 2713 Gnai1 G protein subunit alpha i1 gene DOID:10914 amnestic disorder ISO RGD:730824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 2713 Gnai1 G protein subunit alpha i1 gene DOID:1826 epilepsy ISO RGD:730824 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461|PMID:25741868 2713 Gnai1 G protein subunit alpha i1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730824 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2713 Gnai1 G protein subunit alpha i1 gene DOID:630 genetic disease ISO RGD:730824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2713 Gnai1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:7240710 20220706 OMIM 2713 Gnai1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28135719|PMID:33473207|PMID:34819662 2713 Gnai1 G protein subunit alpha i1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33473207 2714 Gnai3 G protein subunit alpha i3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 2714 Gnai3 G protein subunit alpha i3 gene DOID:10763 hypertension treatment IEP D RGD:13508592|PMID:15106810 20180302 RGD 2714 Gnai3 G protein subunit alpha i3 gene DOID:10914 amnestic disorder ISO RGD:731003 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 2714 Gnai3 G protein subunit alpha i3 gene DOID:12849 autistic disorder ISO RGD:731003 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2714 Gnai3 G protein subunit alpha i3 gene DOID:630 genetic disease ISO RGD:731003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2714 Gnai3 G protein subunit alpha i3 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:731003 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 2714 Gnai3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:7240710 20130731 OMIM 2714 Gnai3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:11102934|PMID:22560091|PMID:23315542|PMID:25026904|PMID:25741868 2714 Gnai3 G protein subunit alpha i3 gene DOID:9004009 Reperfusion Injury IEP D RGD:13513922|PMID:11367746 20180312 RGD 2715 Gnal G protein subunit alpha L gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1349997 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 2715 Gnal G protein subunit alpha L gene DOID:0080855 Parkinsonism ISO RGD:69021 D RGD:13513924|PMID:22539851 20180312 RGD 2715 Gnal G protein subunit alpha L gene DOID:0081292 traumatic brain injury IEP D RGD:13513923|PMID:29215295 20180312 RGD 2715 Gnal G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:7240710 20140911 OMIM 2715 Gnal G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 25 PMID:23222958|PMID:23449625|PMID:23759320|PMID:24408567|PMID:25741868|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297 2715 Gnal G protein subunit alpha L gene DOID:1059 intellectual disability ISO RGD:1349997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2715 Gnal G protein subunit alpha L gene DOID:543 dystonia IMP D RGD:150429833|PMID:31678405 20211004 RGD 2715 Gnal G protein subunit alpha L gene DOID:543 dystonia ISO RGD:1349997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222958 2715 Gnal G protein subunit alpha L gene DOID:543 dystonia ISO RGD:1349997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:23222958|PMID:23759320|PMID:24151159|PMID:24405754|PMID:24408567|PMID:24500857|PMID:24535567|PMID:24729450|PMID:25741868|PMID:25817843|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297|PMID:31731261|PMID:9536098 2715 Gnal G protein subunit alpha L gene DOID:630 genetic disease ISO RGD:1349997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2715 Gnal G protein subunit alpha L gene DOID:9001722 Dysarthria ISO RGD:1349997 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:32581362 2716 Gnas GNAS complex locus gene DOID:0050581 brachydactyly ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12719376 2716 Gnas GNAS complex locus gene DOID:0060001 withdrawal disorder ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 2716 Gnas GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:11568047|PMID:11600516 20161207 RGD DNA:splice-site mutation 2716 Gnas GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:11568049|PMID:11095461 20161207 RGD DNA:deletions:exon:multiple 2716 Gnas GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:7240710 20130731 OMIM 2716 Gnas GNAS complex locus gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A PMID:11093740|PMID:11412411|PMID:11450852|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20427508|PMID:2109828|PMID:21525160|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:23884777|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24855271|PMID:24914079|PMID:24982418|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:29379892|PMID:29628140|PMID:29970488|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:8072545|PMID:8388883|PMID:8702665|PMID:9159128|PMID:9727013|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21836370 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:11568043|PMID:15537666 20161206 RGD DNA:hypomethylation:exon, promoter 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:11568044|PMID:12621129 20161206 RGD DNA:mutations:exon, intron:multiple 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:11568048|PMID:18812479 20161207 RGD 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:11568050|PMID:22378814 20161207 RGD DNA:deletion, hypomethylation 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:7240710 20170531 OMIM 2716 Gnas GNAS complex locus gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20015054|PMID:20427508|PMID:21525160|PMID:23281139|PMID:23796510|PMID:23884777|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24728327|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:0080322 polycystic kidney disease IEP D RGD:14700993|PMID:28543567 20190903 RGD protein:increased expression:cholangiocyte 2716 Gnas GNAS complex locus gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant PMID:23281139|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29072892|PMID:34008892|PMID:8388883 2716 Gnas GNAS complex locus gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736916 D RGD:7240710 20130731 OMIM 2716 Gnas GNAS complex locus gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2122458|PMID:23281139|PMID:23796510|PMID:24033266|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8557265|PMID:8702665|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:0111622 ACTH-independent macronodular adrenal hyperplasia ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:23281139|PMID:23796510|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:11568052|PMID:12727968 20161207 RGD DNA:missense mutations:exon:p.R201S, p.R201H (human) 2716 Gnas GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:7240710 20130731 OMIM 2716 Gnas GNAS complex locus gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:23281139|PMID:23796510|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:0112010 pituitary adenoma 3 ISO RGD:736916 D RGD:7240710 20190315 OMIM 2716 Gnas GNAS complex locus gene DOID:0112010 pituitary adenoma 3 ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types PMID:11093740|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17493233|PMID:17873334|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20197676|PMID:20427508|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24481334|PMID:24626099|PMID:24855271|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:7737262|PMID:7739708|PMID:8702665|PMID:8766942|PMID:9626141|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:1059 intellectual disability ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11583302 2716 Gnas GNAS complex locus gene DOID:1059 intellectual disability ISO RGD:736916 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2716 Gnas GNAS complex locus gene DOID:10652 Alzheimer's disease ISO RGD:736916 D RGD:10401266|PMID:8012802 20151005 RGD 2716 Gnas GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 2716 Gnas GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:1331525|PMID:15118671 19990101 GAD 2716 Gnas GNAS complex locus gene DOID:10763 hypertension ISO RGD:736916 D RGD:1580404|PMID:12215464 19990101 RGD 2716 Gnas GNAS complex locus gene DOID:11612 polycystic ovary syndrome ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2716 Gnas GNAS complex locus gene DOID:14566 disease of cellular proliferation ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:1793 pancreatic cancer ISO RGD:736916 D RGD:2317256|PMID:12771991 20100324 RGD 2716 Gnas GNAS complex locus gene DOID:1858 McCune Albright syndrome ISO RGD:736916 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469|PMID:18345393 2716 Gnas GNAS complex locus gene DOID:1858 McCune Albright syndrome ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright's disease | ClinVar Annotator: match by term: McCune-Albright syndrome PMID:10571700|PMID:11092390|PMID:11093740|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12727968|PMID:12970318|PMID:1505964|PMID:15126527|PMID:1517386|PMID:15711092|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17493233|PMID:17873334|PMID:18553568|PMID:18796523|PMID:1944469|PMID:20197676|PMID:20427508|PMID:21525160|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23533243|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24728327|PMID:24855271|PMID:25044890|PMID:25157968|PMID:25219572|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:26633545|PMID:27398169|PMID:27506760|PMID:27703483|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30702195|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:3720010|PMID:7737262|PMID:7739708|PMID:7751320|PMID:8702665|PMID:8766942|PMID:9267696|PMID:9626141|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:1909 melanoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:192 sex cord-gonadal stromal tumor ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sex cord-stromal tumor PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:2213 hemorrhagic disease ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11583302 2716 Gnas GNAS complex locus gene DOID:2449 acromegaly ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11254676 2716 Gnas GNAS complex locus gene DOID:28 endocrine system disease ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 2716 Gnas GNAS complex locus gene DOID:3717 gastric adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:3910 lung adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:3947 adrenal gland hyperfunction ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperadrenocorticism PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:3948 adrenocortical carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9506752 2716 Gnas GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:7240710 20130731 OMIM 2716 Gnas GNAS complex locus gene DOID:4183 pseudopseudohypoparathyroidism ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism PMID:10487696|PMID:11092390|PMID:11095461|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12624854|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2122458|PMID:21525160|PMID:219790|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24033266|PMID:24088041|PMID:24481334|PMID:24626099|PMID:25044890|PMID:25219572|PMID:25594858|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:7853365|PMID:8702665|PMID:9506752|PMID:9727013|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:2109828|PMID:2122458|PMID:9506752|PMID:17299070|PMID:21823526 2716 Gnas GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:11568042|PMID:10487696 20161206 RGD DNA:deletions:exon 2716 Gnas GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:11568047|PMID:11600516 20161207 RGD 2716 Gnas GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:11568048|PMID:18812479 20161207 RGD 2716 Gnas GNAS complex locus gene DOID:4184 pseudohypoparathyroidism ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:10487696|PMID:11073544|PMID:11092390|PMID:11095461|PMID:11450852|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:17164301|PMID:17299070|PMID:17962410|PMID:18553568|PMID:18796523|PMID:20427508|PMID:2109828|PMID:2122458|PMID:21488135|PMID:21525160|PMID:21713996|PMID:21747923|PMID:219790|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24651309|PMID:25044890|PMID:25219572|PMID:25326637|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:28492532|PMID:29059381|PMID:29072892|PMID:29193623|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34008892|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8388883|PMID:8557265|PMID:8702665|PMID:9159128|PMID:9328353|PMID:9506752|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:446 primary hyperaldosteronism ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome PMID:11093740|PMID:11784876|PMID:12727968|PMID:12970262|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:2109828|PMID:21525160|PMID:21713996|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:4479 pseudohypoaldosteronism ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 2716 Gnas GNAS complex locus gene DOID:4947 cholangiocarcinoma ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 2716 Gnas GNAS complex locus gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736916 D RGD:1601377|PMID:17356712 20070418 RGD DNA:polymorphism:393T>C (human) 2716 Gnas GNAS complex locus gene DOID:5419 schizophrenia ISS RGD:10669 D RGD:13592920 20180518 MouseDO OMIM:181500 2716 Gnas GNAS complex locus gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11254676 2716 Gnas GNAS complex locus gene DOID:630 genetic disease ISO RGD:736916 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11092390|PMID:11600516|PMID:11784876|PMID:12024004|PMID:12624854|PMID:12970262|PMID:1505964|PMID:15711092|PMID:16199547|PMID:18553568|PMID:18796523|PMID:20427508|PMID:21525160|PMID:23281139|PMID:23533243|PMID:23796510|PMID:24088041|PMID:24481334|PMID:24626099|PMID:24651309|PMID:24982418|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:26633545|PMID:27703483|PMID:27871293|PMID:28492532|PMID:28708303|PMID:29059381|PMID:29072892|PMID:29628140|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:7853365|PMID:8702665|PMID:9727013|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:684 hepatocellular carcinoma ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:1944469|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:684 hepatocellular carcinoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:769 neuroblastoma ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20862257 2716 Gnas GNAS complex locus gene DOID:8923 skin melanoma ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 2716 Gnas GNAS complex locus gene DOID:9000882 Pseudohypoparathyroidism Type IC ISO RGD:736916 D RGD:7240710 20170531 OMIM 2716 Gnas GNAS complex locus gene DOID:9000882 Pseudohypoparathyroidism Type IC ISO RGD:736916 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C PMID:11600516|PMID:11784876|PMID:11788646|PMID:12024004|PMID:12621129|PMID:12970262|PMID:1505964|PMID:15711092|PMID:18553568|PMID:18796523|PMID:20427508|PMID:21488135|PMID:21525160|PMID:23281139|PMID:23796510|PMID:24033266|PMID:24481334|PMID:24626099|PMID:24651309|PMID:25044890|PMID:25219572|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381|PMID:29072892|PMID:30349702|PMID:30674755|PMID:30729047|PMID:31793173|PMID:31886927|PMID:34254228|PMID:34418133|PMID:34614324|PMID:35296306|PMID:35357904|PMID:35497370|PMID:8702665|PMID:9876352 2716 Gnas GNAS complex locus gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736916 D RGD:1601379|PMID:17020971 20070418 RGD DNA:polymorphism:393T>C (human) 2716 Gnas GNAS complex locus gene DOID:9002234 Pituitary Neoplasms ISO RGD:736916 D RGD:1601376|PMID:2549426 20070418 RGD DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human) 2716 Gnas GNAS complex locus gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736916 D RGD:1601375|PMID:2122458 20070418 RGD Albright hereditary osteodystrophy,OMIM:103580;DNA:deletion 2716 Gnas GNAS complex locus gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 2716 Gnas GNAS complex locus gene DOID:9002554 Tachycardia ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 2716 Gnas GNAS complex locus gene DOID:9002669 Hypoxia ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20862257 2716 Gnas GNAS complex locus gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 2716 Gnas GNAS complex locus gene DOID:9003295 Heterotopic Ossification ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18553568 2716 Gnas GNAS complex locus gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:9004659 Respiration Disorders ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9506701 2716 Gnas GNAS complex locus gene DOID:9005158 Cushing Syndrome ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome PMID:11093740|PMID:11784876|PMID:12727968|PMID:12970262|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:2109828|PMID:21525160|PMID:21713996|PMID:21835143|PMID:23281139|PMID:23403822|PMID:23536913|PMID:23796510|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:25802881|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:29059381|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9267696|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:736916 D RGD:1580406|PMID:11910300 19990101 RGD DNA:SNP: : 393T>C(human) 2716 Gnas GNAS complex locus gene DOID:9006113 Gallstones ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21823526 2716 Gnas GNAS complex locus gene DOID:9007284 Precocious Puberty ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1594625|PMID:1944469 2716 Gnas GNAS complex locus gene DOID:9007692 Insulin Resistance ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17062894 2716 Gnas GNAS complex locus gene DOID:9008443 Colorectal Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:736916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:11093740|PMID:12727968|PMID:12970318|PMID:15126527|PMID:1517386|PMID:1594625|PMID:15952988|PMID:16507630|PMID:16543670|PMID:17873334|PMID:1944469|PMID:20197676|PMID:21835143|PMID:23403822|PMID:23536913|PMID:23843956|PMID:24855271|PMID:25157968|PMID:2549426|PMID:25719192|PMID:25741868|PMID:26619011|PMID:27398169|PMID:27506760|PMID:28492532|PMID:30702195|PMID:3720010|PMID:7739708|PMID:8766942|PMID:9626141 2716 Gnas GNAS complex locus gene DOID:9970 obesity ISO RGD:736916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17062894 2716 Gnas GNAS complex locus gene DOID:9970 obesity ISO RGD:736916 D RGD:11568045|PMID:17062894 20161206 RGD associated with Polycystic Ovary Syndrome;DNA:polymorphism: :393T>C (human) 2716 Gnas GNAS complex locus gene DOID:9970 obesity ISO RGD:736916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:11784876|PMID:12970262|PMID:21525160|PMID:23281139|PMID:23796510|PMID:25741868|PMID:25802881|PMID:28492532|PMID:29059381 2717 Gnaz G protein subunit alpha z gene DOID:11198 DiGeorge syndrome ISO RGD:733341 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 2717 Gnaz G protein subunit alpha z gene DOID:5419 schizophrenia ISO RGD:733341 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2717 Gnaz G protein subunit alpha z gene DOID:630 genetic disease ISO RGD:733341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2717 Gnaz G protein subunit alpha z gene DOID:684 hepatocellular carcinoma ISO RGD:733341 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2718 Gnb1 G protein subunit beta 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2718 Gnb1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:7240710 20201223 OMIM 2718 Gnb1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:27108799|PMID:27759915|PMID:28492532|PMID:30504930|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 2718 Gnb1 G protein subunit beta 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 2718 Gnb1 G protein subunit beta 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:732785 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2718 Gnb1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:7240710 20190315 OMIM 2718 Gnb1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42 PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31034681|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32581362|PMID:32918542|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:732785 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 2718 Gnb1 G protein subunit beta 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:732785 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 2718 Gnb1 G protein subunit beta 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2718 Gnb1 G protein subunit beta 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2718 Gnb1 G protein subunit beta 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2718 Gnb1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:10907 microcephaly ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:27108799|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617 2718 Gnb1 G protein subunit beta 1 gene DOID:1459 hypothyroidism ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:1596 depressive disorder ISO RGD:732785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 2718 Gnb1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732785 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2718 Gnb1 G protein subunit beta 1 gene DOID:1969 cerebral palsy ISO RGD:732785 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:2030 anxiety disorder ISO RGD:732785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 2718 Gnb1 G protein subunit beta 1 gene DOID:2234 focal epilepsy ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:25485910|PMID:25741868|PMID:27108799|PMID:30194818|PMID:32134617 2718 Gnb1 G protein subunit beta 1 gene DOID:540 strabismus ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Strabismus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:543 dystonia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31034681|PMID:31735425|PMID:32134617|PMID:32581362|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:6000 congestive heart failure disease_progression ISO RGD:732785 D RGD:155630627|PMID:33779075 20221026 RGD DNA:mutations: : 2718 Gnb1 G protein subunit beta 1 gene DOID:630 genetic disease ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:674 cleft palate ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:27108799|PMID:28087732|PMID:29694806|PMID:30194818|PMID:32134617|PMID:32918542 2718 Gnb1 G protein subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9005466 Language Development Disorders ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9006257 Growth Disorders ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:732785 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 2718 Gnb1 G protein subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 2718 Gnb1 G protein subunit beta 1 gene DOID:9650 pathologic nystagmus ISO RGD:732785 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 2718 Gnb1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:7240710 20230505 OMIM 2718 Gnb1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32134617 2719 Gnmt glycine N-methyltransferase gene DOID:0050444 infantile Refsum disease ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 2719 Gnmt glycine N-methyltransferase gene DOID:0050544 hypermethioninemia ISO RGD:732912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11596649|PMID:11810299 2719 Gnmt glycine N-methyltransferase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732912 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31086990 2719 Gnmt glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:7240710 20180214 OMIM 2719 Gnmt glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency PMID:11596649|PMID:11810299|PMID:14739680|PMID:28492532 2719 Gnmt glycine N-methyltransferase gene DOID:2237 hepatitis ISO RGD:732912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 2719 Gnmt glycine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2719 Gnmt glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:732912 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:19146867|PMID:31086990 2719 Gnmt glycine N-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17332283 2719 Gnmt glycine N-methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:732912 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 2719 Gnmt glycine N-methyltransferase gene DOID:9008510 Chronic Hepatitis ISO RGD:732912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19146867 2719 Gnmt glycine N-methyltransferase gene DOID:905 Zellweger syndrome ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 2719 Gnmt glycine N-methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:732912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16317120 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:7240710 20150708 OMIM 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:19535795|PMID:19567835|PMID:26467025|PMID:28492532 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:9685133|PMID:23936060 20141217 RGD DNA:missense mutation:cds:p.R31C (human) 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:9685134|PMID:19535795 20141217 RGD DNA:frameshift mutation:cds:c.18-19insA (human) 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:9685137|PMID:19567835 20141217 RGD DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human) 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19535795 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:10763 hypertension ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:11132 prostatic hypertrophy treatment IMP D RGD:10401238|PMID:22341819 20151002 RGD 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:12336 male infertility ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20063086 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:12700 hyperprolactinemia ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2204052 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:13938 amenorrhea ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:1612 breast cancer severity ISO RGD:69083 D RGD:2292541|PMID:17692113 20080422 RGD 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20063086 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism treatment ISO RGD:1553302 D RGD:9685135|PMID:3097822 20141217 RGD 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:824 periodontitis ISO RGD:69083 D RGD:9685136|PMID:15490304 20141217 RGD DNA:snp:exon:c.59C>G (human) 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9000053 Headache ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19261682 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9002395 Hypothermia ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9002554 Tachycardia ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9007001 Bradycardia ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6350720 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9007284 Precocious Puberty ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 2720 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9008385 Vomiting ISO RGD:69083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:0050700 cardiomyopathy IEP D RGD:13504856|PMID:20733562 20180130 RGD mRNA:decreased expression:myocardium (rat) 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:13504854|PMID:20145654 20180130 RGD 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10675 D RGD:13504855|PMID:21361730 20180130 RGD 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:735827 D RGD:13504852|PMID:24407245 20180129 RGD human protein in a rat model 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:735827 D RGD:13506239|PMID:26113413 20180201 RGD human protein in a rat model 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:3498 pancreatic ductal adenocarcinoma treatment ISO RGD:735827 D RGD:13504844|PMID:23535601 20180129 RGD human cells in a mouse model 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:630 genetic disease ISO RGD:735827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735827 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9004610 Acute Lung Injury IEP D RGD:13504847|PMID:25581610 20180129 RGD protein:decreased expression:lung (rat) 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9006008 Closed Head Injuries ISO RGD:735827 D RGD:13504858|PMID:17014847 20180130 RGD human protein in a rat model 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:4145499|PMID:19823174 20180130 RGD mRNA:decreased expression:lung (rat) 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735827 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9007480 Hyperoxia IEP D RGD:13504857|PMID:20049628 20180130 RGD protein:increased expression:brain (rat) 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9007956 Febrile Seizures IEP D RGD:13504853|PMID:24373994 20180129 RGD mRNA:increased expression:hippocampus (rat) 2721 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9120 amyloidosis treatment ISO RGD:735827 D RGD:13504835|PMID:28390893 20180129 RGD human protein in a rat model 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISS RGD:734092 D RGD:13592920 20230504 MouseDO 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:7240710 20200101 OMIM 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 PMID:25741868|PMID:28492532|PMID:31422819 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:1289 neurodegenerative disease IEP D RGD:11352733|PMID:26631339 20180202 RGD protein:decreased expression:striatum (rat) 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:3021 acute kidney failure IEP D RGD:13506245|PMID:23924727 20180202 RGD protein:decreased activity:kidney (rat) 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:5419 schizophrenia IEP D RGD:11571618|PMID:23942359 20180202 RGD protein:decreased expression:frontal cortex (rat) 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:630 genetic disease ISO RGD:734091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13506243|PMID:27150525 20180202 RGD protein:increased expression:spinal cord (rat) 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9004283 Transplant Rejection treatment IDA D RGD:13504864|PMID:28596681 20180130 RGD 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:4145499|PMID:19823174 20180130 RGD mRNA:decreased expression:lung (rat) 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9007956 Febrile Seizures IEP D RGD:13504853|PMID:24373994 20180202 RGD mRNA:increased expression:hippocampus (rat) 2722 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9970 obesity IEP D RGD:11041118|PMID:23743348 20180202 RGD protein:increased expression:skeletal muscle tissue, T-tubule (rat) 2724 Gp5 glycoprotein V (platelet) gene DOID:630 genetic disease ISO RGD:736629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2725 Gpc3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:10677 D RGD:243065142|PMID:10402475 20230412 RGD 2725 Gpc3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:7240710 20131030 OMIM 2725 Gpc3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:10402475|PMID:10814714|PMID:12713262|PMID:16158429|PMID:17603795|PMID:17850639|PMID:18203194|PMID:19215053|PMID:20301398|PMID:23606591|PMID:24459012|PMID:25741868|PMID:26321508|PMID:28492532|PMID:9950367 2725 Gpc3 glypican 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737615 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2725 Gpc3 glypican 3 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:737615 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 2725 Gpc3 glypican 3 gene DOID:1059 intellectual disability ISO RGD:737615 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2725 Gpc3 glypican 3 gene DOID:12849 autistic disorder ISO RGD:737615 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2725 Gpc3 glypican 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:737615 D RGD:243065128|PMID:23530909 20230411 RGD protein:increased expression:brain (human) 2725 Gpc3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:7240710 20130221 OMIM 2725 Gpc3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21362501|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29637653|PMID:31304847|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 2725 Gpc3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27739211|PMID:28492532|PMID:29637653|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 2725 Gpc3 glypican 3 gene DOID:2394 ovarian cancer ISO RGD:737615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 2725 Gpc3 glypican 3 gene DOID:3596 placental site trophoblastic tumor ISO RGD:737615 D RGD:243065141|PMID:20868507 20230412 RGD protein:increased expression:placenta, trophoblast cells (human) 2725 Gpc3 glypican 3 gene DOID:5082 liver cirrhosis ISO RGD:737615 D RGD:243065135|PMID:28801286 20230412 RGD protein:increased expression:blood serum (human) 2725 Gpc3 glypican 3 gene DOID:5176 renal Wilms' tumor disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA, protein:increased expression:kidney (human) PMID:25366870|REF_RGD_ID:243065136 2725 Gpc3 glypican 3 gene DOID:630 genetic disease ISO RGD:737615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10402475|PMID:12713262|PMID:17603795|PMID:18203194|PMID:19215053|PMID:20683991|PMID:20950395|PMID:23606591|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8589713 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:16698587|PMID:28284560 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:14695020|PMID:25449037 20190628 RGD protein:increased expression:serum 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:243065135|PMID:28801286 20230412 RGD protein:increased expression:blood serum (human) 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:243065125|PMID:21438004 20230411 RGD mRNA:increased expression:Peripheral Blood (human) 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:243065139|PMID:22883669 20230412 RGD protein:increased expression:liver (human) 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:27286460|REF_RGD_ID:243065134 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:14695019|PMID:19496787 20190628 RGD protein:increased expression:liver 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:243065131|PMID:23558072 20230411 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human) 2725 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma treatment IMP D RGD:14695020|PMID:25449037 20190628 RGD 2725 Gpc3 glypican 3 gene DOID:687 hepatoblastoma ISO RGD:737615 D RGD:243065128|PMID:23530909 20230411 RGD protein:increased expression:liver (human) 2725 Gpc3 glypican 3 gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:10677 D RGD:243065129|PMID:19733558 20230411 RGD 2725 Gpc3 glypican 3 gene DOID:9003566 Mesothelioma ISO RGD:737615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10656689 2725 Gpc3 glypican 3 gene DOID:9006618 Liver Metastasis ISO RGD:737615 D RGD:243065135|PMID:28801286 20230412 RGD protein:increased expression:blood serum (human) 2725 Gpc3 glypican 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737615 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 2725 Gpc3 glypican 3 gene DOID:9007329 Human Viral Hepatitis ISO RGD:737615 D RGD:243065135|PMID:28801286 20230412 RGD protein:increased expression:blood serum (human) 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737186 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0080600 COVID-19 ISO RGD:737186 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:11476 osteoporosis ISO RGD:737186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:737186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737186 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 2726 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737186 D RGD:7240710 20230505 OMIM 2727 Gpi glucose-6-phosphate isomerase gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 2727 Gpi glucose-6-phosphate isomerase gene DOID:1059 intellectual disability ISO RGD:1344852 D RGD:1600632|PMID:9856489 20070321 RGD Severe GPI deficiency with neurologic deficits 2727 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:11051955|PMID:8417789 20160412 RGD 2727 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:11051849|PMID:9446754 20160412 RGD DNA:mutations:cds: 2727 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:1600633|PMID:17041899 20070321 RGD 2727 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISS RGD:1344852 D RGD:13592920 20180518 MouseDO OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 2727 Gpi glucose-6-phosphate isomerase gene DOID:3910 lung adenocarcinoma ISO RGD:10680 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2727 Gpi glucose-6-phosphate isomerase gene DOID:440 neuromuscular disease ISO RGD:1344852 D RGD:1600632|PMID:9856489 20070321 RGD Severe GPI deficiency with neurologic deficits 2727 Gpi glucose-6-phosphate isomerase gene DOID:583 hemolytic anemia ISO RGD:10680 D RGD:11051847|PMID:22930244 20160412 RGD DNA:polymorphism:cds:p.G368R(human) 2727 Gpi glucose-6-phosphate isomerase gene DOID:583 hemolytic anemia ISO RGD:1344852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8822954 2727 Gpi glucose-6-phosphate isomerase gene DOID:583 hemolytic anemia ISO RGD:1344852 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:32581362 2727 Gpi glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:1600631|PMID:8499925 20070321 RGD 2727 Gpi glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:1600632|PMID:9856489 20070321 RGD Severe GPI deficiency with neurologic deficits 2727 Gpi glucose-6-phosphate isomerase gene DOID:630 genetic disease ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064002|PMID:25741868|PMID:28492532|PMID:31133865|PMID:8499925 2727 Gpi glucose-6-phosphate isomerase gene DOID:9000965 Neoplasm Metastasis ISO RGD:10680 D RGD:11051956|PMID:20978190 20160412 RGD 2727 Gpi glucose-6-phosphate isomerase gene DOID:9002457 Experimental Arthritis ISO RGD:1344852 D RGD:11051957|PMID:23911657 20160412 RGD 2727 Gpi glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:7240710 20130221 OMIM 2727 Gpi glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency PMID:10916680|PMID:19064002|PMID:24033266|PMID:25741868|PMID:26509025|PMID:27519939|PMID:28492532|PMID:30585945|PMID:31133865|PMID:32581362|PMID:4076245|PMID:7989588|PMID:8499925|PMID:8822952|PMID:8822954|PMID:9616041|PMID:9856489 2727 Gpi glucose-6-phosphate isomerase gene DOID:9006205 Animal Disease Models ISO RGD:10680 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2727 Gpi glucose-6-phosphate isomerase gene DOID:9008939 Breast Neoplasms ISO RGD:1344852 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 2727 Gpi glucose-6-phosphate isomerase gene DOID:9119 acute myeloid leukemia ISO RGD:1344852 D RGD:11051848|PMID:6589021 20160412 RGD protein:increased expression:plasma: 2727 Gpi glucose-6-phosphate isomerase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1344852 D RGD:11051848|PMID:6589021 20160412 RGD 2728 Cmklr2 chemerin chemokine-like receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2728 Cmklr2 chemerin chemokine-like receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732710 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2729 Gpx1 glutathione peroxidase 1 gene DOID:0050083 Keshan disease ISO RGD:737005 D RGD:11352821|PMID:21055077 20160720 RGD DNA:polymorphism: :p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 2729 Gpx1 glutathione peroxidase 1 gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:737005 D RGD:11352765|PMID:25016003 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:0060852 Pierson syndrome ISO RGD:737005 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 2729 Gpx1 glutathione peroxidase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:737005 D RGD:11352761|PMID:27077777 20160719 RGD DNA:polymorphism: :p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:10681 D RGD:11352823|PMID:24597775 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:0080600 COVID-19 ISO RGD:737005 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2729 Gpx1 glutathione peroxidase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:737005 D RGD:151665483|PMID:22843889 20220426 RGD protein:decreased expression:stomach (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:737005 D RGD:152995456|PMID:19035188 20220622 RGD DNA:missense mutation, haplotype:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21593737 2729 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:1600704|PMID:17198913 20070323 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension treatment IDA D RGD:11353777|PMID:21210316 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension treatment IEP D RGD:11352825|PMID:23752977 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:10681 D RGD:11352757|PMID:22620981 20160719 RGD protein:decreased expression:penis 2729 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:737005 D RGD:11352775|PMID:20846340 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:737005 D RGD:11352756|PMID:19951064 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:1099 alpha thalassemia ISO RGD:737005 D RGD:11352811|PMID:24577940 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:737005 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:15247771|PMID:35764155 2729 Gpx1 glutathione peroxidase 1 gene DOID:11476 osteoporosis ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 2729 Gpx1 glutathione peroxidase 1 gene DOID:11713 diabetic angiopathy ISO RGD:737005 D RGD:1600708|PMID:16338763 20070323 RGD cardiovascular complications in type 2 diabetics 2729 Gpx1 glutathione peroxidase 1 gene DOID:11714 gestational diabetes IDA D RGD:11353780|PMID:22342560 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia IEP D RGD:11352760|PMID:7861256 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:737005 D RGD:11352819|PMID:24691014 20160720 RGD associated with Renal Insufficiency, Chronic 2729 Gpx1 glutathione peroxidase 1 gene DOID:1240 leukemia ISO RGD:737005 D RGD:11352809|PMID:17205986 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:12849 autistic disorder ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19195803 2729 Gpx1 glutathione peroxidase 1 gene DOID:12858 Huntington's disease ISO RGD:737005 D RGD:13432193|PMID:18588971 20170925 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14573732 2729 Gpx1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737005 D RGD:2306612|PMID:15331559 20090427 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18940188 2729 Gpx1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:737005 D RGD:2306616|PMID:18940188 20090428 RGD DNA:polymorphism: :p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:13001 carotid stenosis ISO RGD:10681 D RGD:11352755|PMID:23426106 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer ISO RGD:737005 D RGD:152023634|PMID:16615267 20220425 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer exacerbates ISO RGD:737005 D RGD:152995450|PMID:32850411 20220622 RGD DNA:mutations:multiple (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:152995449|PMID:11103801 20220622 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:152995506|PMID:15192016 20220627 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:152998903|PMID:23516596 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:14330 Parkinson's disease ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15824117 2729 Gpx1 glutathione peroxidase 1 gene DOID:1459 hypothyroidism treatment IDA D RGD:7257534|PMID:22733496 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:1596 depressive disorder ISO RGD:737005 D RGD:11352766|PMID:23707456 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:737005 D RGD:152995457|PMID:14744747 20220622 RGD DNA:repeat:CDS: (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 2729 Gpx1 glutathione peroxidase 1 gene DOID:182 calcinosis susceptibility ISO RGD:737005 D RGD:2306608|PMID:17825092 20090427 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:1826 epilepsy ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 2729 Gpx1 glutathione peroxidase 1 gene DOID:2018 hyperinsulinism ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15184668|PMID:18560803 2729 Gpx1 glutathione peroxidase 1 gene DOID:219 colon cancer ISO RGD:737005 D RGD:152995496|PMID:21868509 20220627 RGD mRNA, protein:increased expression:colon (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:219 colon cancer treatment ISO RGD:10681 D RGD:152995480|PMID:28045589 20220624 RGD associated with Inflammation 2729 Gpx1 glutathione peroxidase 1 gene DOID:2316 brain ischemia ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12531513 2729 Gpx1 glutathione peroxidase 1 gene DOID:2349 arteriosclerosis ISO RGD:10681 D RGD:2306610|PMID:17420349 20090427 RGD associated with Diabetes Mellitus, Experimental 2729 Gpx1 glutathione peroxidase 1 gene DOID:2355 anemia ISO RGD:737005 D RGD:11352778|PMID:8939405 20160719 RGD associated with Kidney Failure, Chronic 2729 Gpx1 glutathione peroxidase 1 gene DOID:2355 anemia treatment IDA D RGD:11352776|PMID:21422078 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:2527 nephrosis ISO RGD:737005 D RGD:7240570|PMID:22046528 20130218 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:2596 larynx cancer susceptibility ISO RGD:737005 D RGD:152998903|PMID:23516596 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15247771 2729 Gpx1 glutathione peroxidase 1 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:737005 D RGD:8547520|PMID:17693525 20140908 RGD DNA:polymorphism:cds:c.593C>T (rs1050450) 2729 Gpx1 glutathione peroxidase 1 gene DOID:285 hairy cell leukemia ISO RGD:737005 D RGD:11353776|PMID:8843970 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:152995454|PMID:28641905 20220622 RGD protein:increased expression:larynx (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:152995455|PMID:27188866 20220622 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma no_association ISO RGD:737005 D RGD:152995493|PMID:24074040 20220627 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:1600677|PMID:12655278 20070322 RGD DNA:repeat:exon 2729 Gpx1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:1600708|PMID:16338763 20070323 RGD cardiovascular complications in type 2 diabetics 2729 Gpx1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737005 D RGD:152995446|PMID:24228025 20220622 RGD protein:decreased expression:mucosa of stomach (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:737005 D RGD:152998894|PMID:27957666 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737005 D RGD:152995507|PMID:18298806 20220627 RGD DNA:missense mutation:CDS:p.P200L (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737005 D RGD:152995481|PMID:16797832 20220624 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma onset ISO RGD:737005 D RGD:152998904|PMID:33474835 20220630 RGD mRNA:increased expression:leukocyte (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737005 D RGD:152998881|PMID:19347979 20220629 RGD DNA:SNP: (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 2729 Gpx1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:737005 D RGD:11353779|PMID:19819955 20160721 RGD associated with Diabetes Mellitus, Type 2 2729 Gpx1 glutathione peroxidase 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:737005 D RGD:152023661|PMID:8001233 20220426 RGD protein:decreased expression:stomach (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737005 D RGD:1600662|PMID:14573732 20070322 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:630 genetic disease ISO RGD:737005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 2729 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737005 D RGD:151708729|PMID:16510607 20220415 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:737005 D RGD:152998906|PMID:25894370 20220701 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737005 D RGD:11533013|PMID:26990426 20220415 RGD associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737005 D RGD:152995483|PMID:19929244 20220624 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:737005 D RGD:11352759|PMID:15954914 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism IDA D RGD:9068475|PMID:19914224 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 2729 Gpx1 glutathione peroxidase 1 gene DOID:83 cataract IDA D RGD:11353787|PMID:23194826 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:8552 chronic myeloid leukemia no_association ISO RGD:737005 D RGD:11352762|PMID:25436036 20160719 RGD DNA:polymorphism: :p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:8577 ulcerative colitis ISO RGD:737005 D RGD:11352754|PMID:20186929 20160719 RGD protein:decreased expression:erythrocyte 2729 Gpx1 glutathione peroxidase 1 gene DOID:8725 vascular dementia treatment IEP D RGD:11352822|PMID:24968700 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:8778 Crohn's disease ISO RGD:737005 D RGD:11352754|PMID:20186929 20160719 RGD protein:decreased expression:erythrocyte 2729 Gpx1 glutathione peroxidase 1 gene DOID:8923 skin melanoma ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:increased expression:skin of body (human) PMID:29535818|REF_RGD_ID:152023655 2729 Gpx1 glutathione peroxidase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737005 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 2729 Gpx1 glutathione peroxidase 1 gene DOID:9000582 Reticulocytosis ISO RGD:737005 D RGD:11353799|PMID:6320862 20160722 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9000998 Brain Injuries IEP D RGD:2306624|PMID:15791111 20090428 RGD mRNA:decreased expression:hippocampus, neuron 2729 Gpx1 glutathione peroxidase 1 gene DOID:9001109 Anorexia treatment ISO RGD:737005 D RGD:11352773|PMID:12005352 20160719 RGD associated with Uremia 2729 Gpx1 glutathione peroxidase 1 gene DOID:9001191 Cadmium Poisoning treatment IEP D RGD:11352769|PMID:24954678 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:737005 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 2729 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10681 D RGD:2306609|PMID:17609286 20090427 RGD protein:increased expression:glomerulus 2729 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737005 D RGD:11068479|PMID:16249459 20160719 RGD associated with Diabetes Mellitus, Type 1 2729 Gpx1 glutathione peroxidase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737005 D RGD:2306611|PMID:16844917 20090427 RGD associated with Diabetes Mellitus, Experimental 2729 Gpx1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:7240710 20141015 OMIM 2729 Gpx1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glutathione peroxidase deficiency PMID:10220143|PMID:25741868 2729 Gpx1 glutathione peroxidase 1 gene DOID:9003603 Hemolysis ISO RGD:737005 D RGD:1600671|PMID:5766310 20070322 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9003709 Mercury Poisoning ISO RGD:10681 D RGD:7240571|PMID:18758054 20130218 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9003871 Venous Thrombosis ISO RGD:10681 D RGD:11352755|PMID:23426106 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23743330 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11103801 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306161|PMID:15039483 20090427 RGD protein:increased expression:glomerulus 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306606|PMID:19229592 20090427 RGD protein:increased expression:liver 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306607|PMID:18387670 20090427 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:11353782|PMID:25744399 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9005725 Iron Overload ISO RGD:737005 D RGD:11352779|PMID:16317757 20160719 RGD associated with Beta-Thalassemia 2729 Gpx1 glutathione peroxidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 2729 Gpx1 glutathione peroxidase 1 gene DOID:9006553 Hyperthermia ISO RGD:737005 D RGD:11554173 20211012 CTD CTD Direct Evidence: therapeutic PMID:34082047 2729 Gpx1 glutathione peroxidase 1 gene DOID:9007188 Liver Neoplasms treatment ISO RGD:10681 D RGD:152995453|PMID:26147624 20220622 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 2729 Gpx1 glutathione peroxidase 1 gene DOID:9008691 Liver Injury treatment IDA D RGD:11353785|PMID:23750655 20160721 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12810669 2729 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737005 D RGD:11061784|PMID:26950655 20160719 RGD DNA:SNP: :c.599C>T (rs1050450) (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737005 D RGD:11061561|PMID:26823947 20160719 RGD DNA:polymorphism: :p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:737005 D RGD:11352817|PMID:22930375 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer ISO RGD:737005 D RGD:152023662|PMID:25550558 20220426 RGD mRNA:decreased expression:colorectum (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:737005 D RGD:152023636|PMID:19428376 20220425 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:737005 D RGD:152995452|PMID:33616746 20220622 RGD DNA:missense mutation:CDS:p.P198L (human) 2729 Gpx1 glutathione peroxidase 1 gene DOID:9268 glycine encephalopathy ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 2729 Gpx1 glutathione peroxidase 1 gene DOID:9279 hyperhomocysteinemia treatment IEP D RGD:11035307|PMID:24563435 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23795780 2729 Gpx1 glutathione peroxidase 1 gene DOID:9452 fatty liver disease ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 2729 Gpx1 glutathione peroxidase 1 gene DOID:9538 multiple myeloma ISO RGD:737005 D RGD:11352777|PMID:8599825 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9669 senile cataract ISO RGD:10681 D RGD:10003112|PMID:16129095 20150518 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737005 D RGD:11352812|PMID:24698347 20160720 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:737005 D RGD:11352774|PMID:17317918 20160719 RGD 2729 Gpx1 glutathione peroxidase 1 gene DOID:9970 obesity ISO RGD:737005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 2731 Tle5 TLE family member 5, transcriptional modulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737345 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2731 Tle5 TLE family member 5, transcriptional modulator gene DOID:9007102 Myocardial Ischemia ISO RGD:737345 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2732 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1824 status epilepticus IDA D RGD:1642496|PMID:12724156 20070920 RGD 2732 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:731546 D RGD:1358334|PMID:9259378 19990101 RGD 2732 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:5419 schizophrenia no_association ISO RGD:731546 D RGD:1642476|PMID:11702055 20070918 RGD 2732 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:630 genetic disease ISO RGD:731546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0060043 sexual health disorder ISO RGD:733691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:7240710 20130221 OMIM 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 PMID:17847003|PMID:25039795|PMID:25627829|PMID:25741868|PMID:28492532 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0111962 combined immunodeficiency ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25039795|PMID:25627829 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1059 intellectual disability ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28180184|PMID:34375587 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12849 autistic disorder ISO RGD:733691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11920157|PMID:20442744 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12849 autistic disorder ISO RGD:733691 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:34375587 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12858 Huntington's disease onset ISO RGD:733691 D RGD:1358638|PMID:10522893 19990101 RGD DNA:repeat: (human) 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1826 epilepsy ISO RGD:733691 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34375587 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:303 substance-related disorder ISO RGD:733691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3068 glioblastoma ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3312 bipolar disorder ISO RGD:733691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18332879 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5419 schizophrenia ISO RGD:733691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733691 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:733691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25039795|PMID:25627829 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:630 genetic disease ISO RGD:733691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28180184|PMID:34375587 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9004009 Reperfusion Injury IMP D RGD:2316528|PMID:17639597 20120822 RGD 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:7240710 20221221 OMIM 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures PMID:25741868|PMID:28180184|PMID:28492532|PMID:34375587 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9007188 Liver Neoplasms ISO RGD:733691 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:733691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 2733 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733691 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0080690 RASopathy ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:5419 schizophrenia ISO RGD:733741 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:630 genetic disease ISO RGD:733741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733741 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2734 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9007661 Dwarfism ISO RGD:733741 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:0050888 syndromic intellectual disability ISO RGD:730907 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:11832 visual epilepsy IMP D RGD:625595|PMID:12080343 19990101 RGD 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:2340 craniosynostosis ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:decreased expression:forebrain, postsynaptic density 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730907 D RGD:2316538|PMID:9848088 20100215 RGD mRNA:increased expression:hippocampus 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:5419 schizophrenia ISO RGD:730907 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:5419 schizophrenia ISO RGD:730907 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:630 genetic disease ISO RGD:730907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9004009 Reperfusion Injury IMP D RGD:2316528|PMID:17639597 20120822 RGD 2735 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9269 maple syrup urine disease ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060041 autism spectrum disorder ISS RGD:10685 D RGD:13592920 20181220 MouseDO 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:7240710 20140911 OMIM 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GRIN1-Related Disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:10197535|PMID:12451122|PMID:16199547|PMID:16826528|PMID:17576681|PMID:19264732|PMID:20716669|PMID:21376300|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25864721|PMID:26350515|PMID:26467025|PMID:26633545|PMID:26833960|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28228639|PMID:28389307|PMID:28492532|PMID:28507080|PMID:29365063|PMID:29720203|PMID:30217972|PMID:30355546|PMID:30755392|PMID:30776697|PMID:31219694|PMID:31429998|PMID:31487502|PMID:32827528|PMID:33122756|PMID:33333793|PMID:34884460|PMID:35393335|PMID:9536098 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731784 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10283 prostate cancer ISO RGD:731784 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10201407|PMID:25008524|PMID:25167861|PMID:25741868|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28389307|PMID:28492532|PMID:30776697|PMID:33122756 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:731784 D RGD:13792688|PMID:24156266 20180920 RGD 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:11446 sciatic neuropathy IEP D RGD:13792690|PMID:26656067 20180920 RGD 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:731784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1561 cognitive disorder IEP D RGD:13792690|PMID:26656067 20180920 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:731784 D RGD:1642372|PMID:14573320 20070913 RGD 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1824 status epilepticus IEP D RGD:13792697|PMID:25457025 20180920 RGD 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1826 epilepsy ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:20716669|PMID:22246434|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27164704|PMID:28228639|PMID:28492532|PMID:31429998|PMID:31487502|PMID:34884460 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:2468 psychotic disorder ISO RGD:731784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731784 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:11068571|PMID:26674869 20180920 RGD 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3526 cerebral infarction severity ISO RGD:731784 D RGD:13792693|PMID:23723305 20180920 RGD 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3652 Leigh disease ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3891 placental insufficiency IEP D RGD:2326049|PMID:19144756 20100618 RGD mRNA, protein:altered expression:hippocampus (rat) 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:5419 schizophrenia ISS RGD:10685 D RGD:13592920 20180518 MouseDO OMIM:181500 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:630 genetic disease ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10197535|PMID:10201407|PMID:12451122|PMID:15970596|PMID:17576681|PMID:20716669|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28492532|PMID:29720203|PMID:30776697|PMID:31429998|PMID:31487502|PMID:34884460|PMID:9536098 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:8725 vascular dementia ISO RGD:731784 D RGD:13792687|PMID:25261450 20180920 RGD associated with Alzheimer's disease 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000641 Pain ISO RGD:731784 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18155693 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9002211 Hyperalgesia ISO RGD:731784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003569 Developmental and Epileptic Encephalopathy 101 ISO RGD:731784 D RGD:7240710 20220406 OMIM 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003569 Developmental and Epileptic Encephalopathy 101 ISO RGD:731784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 PMID:25741868|PMID:27164704|PMID:28492532|PMID:31219694|PMID:34611970 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2325954|PMID:19761817 20100615 RGD mRNA:decreased expression:hippocampus (rat) 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003816 Macrocephaly ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731784 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868|PMID:27164704 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005466 Language Development Disorders ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16014726|PMID:20149346 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:731784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008237 Hemimegalencephaly ISO RGD:731784 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:7240710 20190315 OMIM 2736 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive PMID:22833210|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28492532|PMID:30776697 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060001 withdrawal disorder ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:732269 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:732269 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:732269 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1059 intellectual disability ISO RGD:732269 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10652 Alzheimer's disease ISO RGD:732269 D RGD:13792688|PMID:24156266 20180920 RGD 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10907 microcephaly ISO RGD:732269 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12849 autistic disorder ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease ISO RGD:10686 D RGD:13432195|PMID:17409241 20170925 RGD 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:13432554|PMID:17569088 20170928 RGD DNA:SNPs: :rs8057394, rs2650427 (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:13432556|PMID:15742215 20170928 RGD DNA:SNPs: :rs1969060 (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1561 cognitive disorder IEP D RGD:13792690|PMID:26656067 20180920 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1824 status epilepticus IEP D RGD:13792697|PMID:25457025 20180920 RGD 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1826 epilepsy ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20890276|PMID:23933818 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1826 epilepsy ISO RGD:732269 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:23933819|PMID:26467025|PMID:28492532 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1909 melanoma ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2234 focal epilepsy ISO RGD:732269 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:23933819|PMID:23933820|PMID:25164438|PMID:25741868|PMID:26467025|PMID:27640074|PMID:28492532|PMID:29124671 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:20384727|PMID:20890276|PMID:21376300|PMID:21559497|PMID:21681106|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:24125812|PMID:24372385|PMID:24828792|PMID:24848745|PMID:25164438|PMID:25326635|PMID:25356970|PMID:25498981|PMID:25640679|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26648591|PMID:26781712|PMID:26806548|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28182669|PMID:28242877|PMID:28333917|PMID:28492532|PMID:28936771|PMID:29056244|PMID:29124671|PMID:29358611|PMID:29655203|PMID:29961510|PMID:30544257|PMID:31098720|PMID:31429998|PMID:32238909|PMID:32722525|PMID:33258288|PMID:33391346|PMID:7574460|PMID:9536098 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2560 morphine dependence ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:1358644|PMID:12809987 19990101 RGD DNA:repeat:promoter:(GT)18-33 (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23933819 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:16199547|PMID:18414213|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3891 placental insufficiency IEP D RGD:2326049|PMID:19144756 20100618 RGD protein:decreased expression:hippocampus (rat) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:1642198|PMID:17011703 20070907 RGD 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:6480428|PMID:18534564 20120321 RGD protein:decreased expression:prefrontal cortex layers 3-4 (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5812 MHC class II deficiency ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:630 genetic disease ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20890276|PMID:21559497|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25164438|PMID:25356970|PMID:25498981|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26781712|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28109652|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:31098720|PMID:31429998 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:8725 vascular dementia ISO RGD:732269 D RGD:13792687|PMID:25261450 20180927 RGD 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:8725 vascular dementia ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:16199547|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25741868|PMID:28102150|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:732269 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002211 Hyperalgesia IDA D RGD:13792698|PMID:29758384 20180920 RGD 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4107070|PMID:20398734 20100712 RGD protein:decreased expression:cerebral cortical neuron (rat) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:7240710 20171011 OMIM 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:16199547|PMID:17576681|PMID:18414213|PMID:20890276|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460|PMID:9536098 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2325954|PMID:19761817 20100615 RGD mRNA:decreased expression:hippocampus (rat) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003736 Central Nervous System Viral Diseases IEP D RGD:2325963|PMID:19660546 20100615 RGD mRNA:increased expression:hippocampus (rat) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004009 Reperfusion Injury IEP D RGD:2325867|PMID:20350575 20100614 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30544257 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004484 Sepsis IEP D RGD:2325949|PMID:19837828 20100615 RGD protein:increased expression:lung (rat) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9005466 Language Development Disorders ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28492532|PMID:30544257 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008086 Developmental Disabilities ISO RGD:732269 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17922030 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:92 speech disorder ISO RGD:732269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer ISO RGD:732269 D RGD:150539451|PMID:17922030 20211228 RGD DNA:hypermethylation:promoter (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732269 D RGD:150539450|PMID:33106877 20211228 RGD right-sided colorectal cancer;DNA:mutations:multiple (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9261 nasopharynx carcinoma ISO RGD:732269 D RGD:150539449|PMID:26681223 20211228 RGD protein:decreased expression:nasopharynx (human) 2737 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9279 hyperhomocysteinemia treatment IDA D RGD:13792697|PMID:25457025 20180920 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0050696 fetal alcohol spectrum disorder treatment IEP D RGD:13432044|PMID:23763370 20170913 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0050696 fetal alcohol spectrum disorder treatment IMP D RGD:13210751|PMID:22037411 20170906 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060041 autism spectrum disorder ISO RGD:731079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572417 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060041 autism spectrum disorder ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731079 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:7240710 20140911 OMIM 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23160955|PMID:23408766|PMID:23934111|PMID:24272827|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:7240710 20170315 OMIM 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10584 retinitis pigmentosa IEP D RGD:13432034|PMID:11925013 20170913 RGD protein:decreased expression:outer plexiform layer of retina (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1059 intellectual disability ISO RGD:731079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20890276 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1059 intellectual disability ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20890276|PMID:23160955|PMID:24272827|PMID:25326637|PMID:25741868|PMID:27818011|PMID:27839871|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:13792688|PMID:24156266 20180920 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:13792709|PMID:24292895 20180921 RGD DNA:SNP, haplotype: :rs1806201 (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:13792713|PMID:18983893 20180921 RGD DNA:SNP:promoter:-421C>A (rs3764028) (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:13792709|PMID:24292895 20180921 RGD DNA:SNP: :2664C>T (rs1806201) (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:13792713|PMID:18983893 20180921 RGD DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:13792714|PMID:18303265 20180921 RGD DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10907 microcephaly ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder IEP D RGD:13432033|PMID:22777493 20170913 RGD mRNA:decreased expression:brain (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder IMP D RGD:13210768|PMID:18571865 20170907 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11446 sciatic neuropathy IEP D RGD:13792690|PMID:26656067 20180920 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11782 astigmatism ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12849 autistic disorder ISO RGD:731079 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease ISO RGD:10687 D RGD:13432195|PMID:17409241 20170925 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:13432554|PMID:17569088 20170928 RGD DNA:SNP: :2664C>T (rs1806201) (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:13432556|PMID:15742215 20170928 RGD DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1561 cognitive disorder IEP D RGD:13792690|PMID:26656067 20180920 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1574 alcohol use disorder ISO RGD:731079 D RGD:1642200|PMID:16911840 20070907 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1574 alcohol use disorder ISO RGD:731079 D RGD:1642372|PMID:14573320 20070913 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1826 epilepsy IEP D RGD:2326034|PMID:19154779 20100617 RGD protein:increased expression:hippocampus (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1826 epilepsy ISO RGD:731079 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:16407536|PMID:29942082 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1826 epilepsy ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1969 cerebral palsy ISO RGD:731079 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:2538 Landau-Kleffner syndrome ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3312 bipolar disorder ISO RGD:731079 D RGD:1642201|PMID:16549338 20070907 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3328 temporal lobe epilepsy ISO RGD:731079 D RGD:13432039|PMID:9761317 20170913 RGD mRNA:decreased expression:hippocampus pyramidal layer (human) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3891 placental insufficiency IEP D RGD:2326049|PMID:19144756 20100618 RGD protein:increased expression:hippocampus (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:4377 egg allergy IEP D RGD:2326032|PMID:19208366 20100617 RGD protein:increased expression:brain, cingulate cortex (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:535 sleep disorder ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia IEP D RGD:13792717|PMID:28628228 20180921 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:1642197|PMID:17224684 20070907 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:1642201|PMID:16549338 20070907 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:543 dystonia ISO RGD:731079 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:630 genetic disease ISO RGD:731079 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738960|PMID:16157279|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23020937|PMID:23160955|PMID:23408766|PMID:23478024|PMID:23934111|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25363768|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29655203|PMID:30217972|PMID:34008892 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:8725 vascular dementia severity ISO RGD:731079 D RGD:13792687|PMID:25261450 20180927 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9001793 Generalized Epilepsy ISO RGD:731079 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia ISO RGD:731079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20042082 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13210755|PMID:24204988 20170906 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:13210763|PMID:20423831 20170907 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002669 Hypoxia treatment IEP D RGD:13210749|PMID:24718106 20170906 RGD associated with Hypercapnia 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2325954|PMID:19761817 20100615 RGD mRNA:decreased expression:hippocampus (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004009 Reperfusion Injury IEP D RGD:2325867|PMID:20350575 20100614 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731079 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004866 Ataxia ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005077 Joint Instability ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005603 Muscle Hypotonia ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4107025|PMID:20056114 20100708 RGD mRNA, protein:increased expression:cerebellum (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006024 Hypotension ISO RGD:731079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006062 Nervous System Trauma IEP D RGD:4107024|PMID:20079352 20100708 RGD protein:increased expression:spinal cord dorsal horn (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23020937|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25741868|PMID:26350515|PMID:27572814|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29681796|PMID:30217972|PMID:30440138|PMID:30842224|PMID:31429998|PMID:34008892 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9007980 Sleep Deprivation IEP D RGD:4107020|PMID:20237303 20100707 RGD protein:decreased expression:hippocampus (rat) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008086 Developmental Disabilities ISO RGD:731079 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741871 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731079 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008582 Developmental Disease ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26350515|PMID:28377535|PMID:28492532|PMID:30842224 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9279 hyperhomocysteinemia treatment IDA D RGD:13792697|PMID:25457025 20180920 RGD 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9281 phenylketonuria ISO RGD:10687 D RGD:13210766|PMID:16153867 20170907 RGD protein:decreased expression:forebrain (mouse) 2738 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9993 hypoglycemia IEP D RGD:4107025|PMID:20056114 20100708 RGD mRNA, protein:increased expression:cerebellum (rat) 2739 Grin2c glutamate ionotropic receptor NMDA type subunit 2C gene DOID:630 genetic disease ISO RGD:736076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:7240710 20190315 OMIM 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 PMID:15970596|PMID:25741868|PMID:27616483|PMID:28492532|PMID:30280376|PMID:31504254|PMID:32860008|PMID:33057194 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1059 intellectual disability ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1826 epilepsy ISO RGD:732718 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19856012 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:2325945|PMID:19856012 20100615 RGD mRNA:increased expression:right hemisphere of cerebellum (human) 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:630 genetic disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11854433|PMID:15970596|PMID:17504910|PMID:18272676|PMID:25741868|PMID:28492532|PMID:30280376|PMID:31504254|PMID:9285588 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:9002955 Nerve Degeneration ISO RGD:732718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 2740 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:936 brain disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:28492532 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0050127 sinusitis ISO RGD:732227 D RGD:4892328|PMID:18396779 20110222 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732227 D RGD:4892608|PMID:15611350 20110225 RGD mRNA, protein:increased expression:lymphoid tissue: 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0060224 atrial fibrillation ISO RGD:732227 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0080162 lupus nephritis ISO RGD:10691 D RGD:7174713|PMID:21509671 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0080162 lupus nephritis ISO RGD:732227 D RGD:7174734|PMID:17880936 20121120 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:732227 D RGD:7174729|PMID:20419394 20121119 RGD mRNA:alternative form:blood, mononuclear cell 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:10283 prostate cancer ISO RGD:732227 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:10763 hypertension IMP D RGD:4892208|PMID:20674672 20110210 RGD associated with fetal nutrition disorder 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:10763 hypertension ISO RGD:10691 D RGD:7174714|PMID:20659135 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:10763 hypertension ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18434569|PMID:20659135 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:10966 lipoid nephrosis disease_progression ISO RGD:732227 D RGD:7174718|PMID:17890747 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:11612 polycystic ovary syndrome IEP D RGD:7174741|PMID:22176470 20121120 RGD mRNA:increased expression:ovary 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:11832 visual epilepsy IEP D RGD:4892123|PMID:20113635 20110208 RGD protein:decreased expression:brain 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:732227 D RGD:7174719|PMID:15833166 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:732227 D RGD:4892607|PMID:15635817 20110225 RGD mRNA:altered expression:leukocyte, mononuclear 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:13141 uveitis IEP D RGD:5490118|PMID:21724913 20120118 RGD mRNA:decreased expression:retina (rat) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:13141 uveitis IEP D RGD:7174735|PMID:23152847 20121120 RGD mRNA, protein:decreased expression:ciliary body, iris 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732227 D RGD:4892566|PMID:2255800 20110223 RGD protein:increased expression:lung 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:1470 major depressive disorder ISO RGD:732227 D RGD:7174717|PMID:18246526 20121116 RGD DNA:SNP:intron:IVS2+646C>G (human) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:1596 depressive disorder IEP D RGD:5686290|PMID:21837980 20120118 RGD mRNA:decreased expression:hippocampus (rat) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:1596 depressive disorder ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:1824 status epilepticus IEP D RGD:5686281|PMID:22050960 20170307 RGD mRNA:decreased expression:hippocampus 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2055 post-traumatic stress disorder IEP D RGD:5686336|PMID:21584742 20120119 RGD mRNA, protein:altered expression:locus coeruleus (rat) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2316 brain ischemia IEP D RGD:4892115|PMID:17344647 20110207 RGD protein:decreased expression:brain cortex 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2320 obstructive lung disease ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9926163 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2468 psychotic disorder ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2841 asthma ISO RGD:732227 D RGD:4892328|PMID:18396779 20110222 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2841 asthma ISO RGD:732227 D RGD:4892609|PMID:15295049 20110225 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2841 asthma severity ISO RGD:732227 D RGD:4892594|PMID:18799869 20110224 RGD protein:increased expression, decreased activity:leukocyte, mononuclear 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2841 asthma susceptibility ISO RGD:732227 D RGD:4892568|PMID:21113676 20110223 RGD DNA:polymorphism:intron 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:2841 asthma treatment IDA D RGD:7174728|PMID:20727335 20121119 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:289 endometriosis ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3082 interstitial lung disease disease_progression ISO RGD:732227 D RGD:4892567|PMID:4028852 20110223 RGD protein:increased expression:lung 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:4892318|PMID:20450542 20110221 RGD protein:decreased expression:lung, lymphocyte 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:4892564|PMID:9926163 20110223 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3312 bipolar disorder ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3324 mood disorder ISO RGD:732227 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29921868 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3393 coronary artery disease ISO RGD:732227 D RGD:1580790|PMID:12623935 19990101 RGD DNA:missense mutation:cds:p.N363S (human) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16806572|REF_RGD_ID:4892333 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:4194 glucose metabolism disease ISO RGD:732227 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:732227 D RGD:7174727|PMID:21531004 20121119 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:4450 renal cell carcinoma treatment ISO RGD:732227 D RGD:7174733|PMID:18181043 20121120 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:446 primary hyperaldosteronism ISS RGD:10691 D RGD:13592920 20180518 MouseDO OMIM:605635 | OMIM:613677 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:4500 hypokalemia ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:5419 schizophrenia ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:21647420 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:6000 congestive heart failure treatment IMP D RGD:7174712|PMID:21737535 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:630 genetic disease ISO RGD:732227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:7148 rheumatoid arthritis IEP D RGD:4892311|PMID:18448865 20110218 RGD mRNA:increased expression:paw 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:767 muscular atrophy IEP D RGD:4892297|PMID:17622304 20110218 RGD protein:altered expression:nucleus 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:783 end stage renal disease IEP D RGD:7174716|PMID:18591458 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:83 cataract IMP D RGD:4892118|PMID:12714641 20110207 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:850 lung disease IEP D RGD:4892201|PMID:17467318 20110210 RGD Acute lung injury;protein:increased expression:lung 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:850 lung disease disease_progression ISO RGD:732227 D RGD:4892330|PMID:18047640 20110222 RGD associated with Cystic Fibrosis;DNA:polymorphism:intron 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:8689 anorexia nervosa ISO RGD:732227 D RGD:7174723|PMID:10356629 20121116 RGD protein:decreased activity:blood, mononuclear leukocyte 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9000121 Malocclusion IEP D RGD:5686299|PMID:21751079 20120118 RGD protein:increased expression:hippocampus (rat) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9000197 Edema IDA D RGD:4892316|PMID:19396522 20110221 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9002231 Fetal Growth Retardation IDA D RGD:4892120|PMID:20388836 20110207 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2308941|PMID:17272666 20090619 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10691 D RGD:4892331|PMID:17322387 20110222 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732227 D RGD:4892593|PMID:20185258 20110224 RGD protein:altered expression:nasal mucosa 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9004283 Transplant Rejection ISO RGD:732227 D RGD:7174721|PMID:10959477 20121116 RGD protein:decreased activity:blood, mononuclear cell 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732227 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9004484 Sepsis ISO RGD:10691 D RGD:4892317|PMID:21057058 20110221 RGD protein:decreased expression:alveolar macrophage 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9004484 Sepsis treatment IDA D RGD:7174711|PMID:21787473 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:10691 D RGD:7174715|PMID:19635986 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:10691 D RGD:7174722|PMID:10471508 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:732227 D RGD:7174723|PMID:10356629 20121116 RGD protein:decreased activity:blood, mononuclear leukocyte 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12805318|PMID:19234455 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:12879479|PMID:21744335 20170421 RGD protein:increased expression:placenta 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9005930 Endotoxemia IDA D RGD:4892561|PMID:15640646 20110223 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732227 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9007096 Stroke IDA D RGD:4892205|PMID:20858282 20110210 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9007730 Burns IEP D RGD:7174720|PMID:11990926 20121116 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9007730 Burns treatment IDA D RGD:4892319|PMID:19216853 20110221 RGD protein:decreased activity:liver, lung, kidney 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:7240710 20141015 OMIM 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid resistance | ClinVar Annotator: match by term: Glucocorticoid resistance, cellular | ClinVar Annotator: match by term: Glucocorticoid resistance, relative | ClinVar Annotator: match by term: Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance PMID:11344238|PMID:11589680|PMID:11701741|PMID:11932321|PMID:12351458|PMID:14715855|PMID:15276593|PMID:15292341|PMID:15497438|PMID:16030164|PMID:16449337|PMID:16636127|PMID:1704018|PMID:17535992|PMID:17848410|PMID:186477|PMID:18854398|PMID:19435830|PMID:21912096|PMID:22445700|PMID:25741868|PMID:28492532|PMID:2996089|PMID:6282933|PMID:6841559|PMID:8316249|PMID:8445027|PMID:9150737|PMID:9435432 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9282 ocular hypertension ISO RGD:732227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17563720 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:4892117|PMID:17292727 20110207 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9970 obesity IDA D RGD:4892206|PMID:20723946 20110210 RGD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9970 obesity ISO RGD:732227 D RGD:1331525|PMID:15118671 19990101 GAD 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9970 obesity ISO RGD:732227 D RGD:7174717|PMID:18246526 20121116 RGD associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) 2741 Nr3c1 nuclear receptor subfamily 3, group C, member 1 gene DOID:9970 obesity no_association ISO RGD:732227 D RGD:1601498|PMID:16725041 20070423 RGD 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736303 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:36675067 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:0050871 fibroma ISO RGD:736303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:7240710 20140903 OMIM 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 PMID:19146831|PMID:19924463|PMID:22448230|PMID:25741868|PMID:25741889|PMID:26308914|PMID:26467025|PMID:28492532|PMID:31319223 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:7240710 20190315 OMIM 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 44 PMID:25741868|PMID:26467025|PMID:28492532|PMID:28886343 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:14261 fragile X syndrome ISO RGD:736303 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:1824 status epilepticus ISO RGD:736303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15058486|PMID:17446080 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:1826 epilepsy ISO RGD:736303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:increased expression:forebrain, postsynaptic density 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:736303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:6039 uveal melanoma ISS RGD:731957 D RGD:13592920 20180518 MouseDO OMIM:155720 | OMIM:606660 | OMIM:606661 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:630 genetic disease ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22448230|PMID:25741868|PMID:26467025|PMID:28492532 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:8923 skin melanoma ISS RGD:731957 D RGD:13592920 20180518 MouseDO OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736303 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:9007603 Bone Tissue Neoplasms ISO RGD:736303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 2742 Grm1 glutamate metabotropic receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736303 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741889|PMID:31319223 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:5419 schizophrenia ISO RGD:732930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:630 genetic disease ISO RGD:732930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:670 amphetamine abuse ISO RGD:732930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:8646 substance-induced psychosis ISO RGD:732930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:9005632 Cocaine-Related Disorders IMP D RGD:38501064|PMID:28700935 20200821 RGD knockout compared to wild type 2743 Grm2 glutamate metabotropic receptor 2 gene DOID:9976 heroin dependence IMP D RGD:38501063|PMID:30283001 20200814 RGD 2744 Grm3 glutamate metabotropic receptor 3 gene DOID:1826 epilepsy ISO RGD:732815 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 2744 Grm3 glutamate metabotropic receptor 3 gene DOID:1909 melanoma ISO RGD:732815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21946352|PMID:22842228 2744 Grm3 glutamate metabotropic receptor 3 gene DOID:3328 temporal lobe epilepsy ISO RGD:732815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 2744 Grm3 glutamate metabotropic receptor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732815 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2744 Grm3 glutamate metabotropic receptor 3 gene DOID:5419 schizophrenia ISO RGD:732815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18256595 2744 Grm3 glutamate metabotropic receptor 3 gene DOID:630 genetic disease ISO RGD:732815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2745 Grm4 glutamate metabotropic receptor 4 gene DOID:0050553 JMP syndrome ISO RGD:731311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2745 Grm4 glutamate metabotropic receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:731311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 2745 Grm4 glutamate metabotropic receptor 4 gene DOID:3347 osteosarcoma ISO RGD:731311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23727862 2745 Grm4 glutamate metabotropic receptor 4 gene DOID:630 genetic disease ISO RGD:731311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2745 Grm4 glutamate metabotropic receptor 4 gene DOID:9002955 Nerve Degeneration ISO RGD:731311 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17446080 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:730960 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:1059 intellectual disability ISO RGD:730960 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19546859|PMID:22138692 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease disease_progression ISO RGD:736778 D RGD:13432562|PMID:15306259 20170929 RGD 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease treatment ISO RGD:736778 D RGD:13432158|PMID:24282028 20170929 RGD 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease treatment ISO RGD:736778 D RGD:13432558|PMID:23489026 20170929 RGD 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease treatment ISO RGD:736778 D RGD:13432561|PMID:25160573 20170929 RGD 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:1824 status epilepticus ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634364|PMID:18774262 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:303 substance-related disorder ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:5419 schizophrenia ISS RGD:736778 D RGD:13592920 20190711 MouseDO OMIM:181500 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:630 genetic disease ISO RGD:730960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:730960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20826661 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:9005968 Neuralgia ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 2746 Grm5 glutamate metabotropic receptor 5 gene DOID:9743 diabetic neuropathy ISO RGD:730960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0050534 congenital stationary night blindness ISO RGD:70075 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0050534 congenital stationary night blindness ISO RGD:70075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:22008250|PMID:24715752|PMID:26628857|PMID:28041643|PMID:28492532|PMID:30718709 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:7240710 20130221 OMIM 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19578023|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28041643|PMID:28492532|PMID:30718709 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:0112103 Sotos syndrome 1 ISO RGD:70075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:630 genetic disease ISO RGD:70075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2747 Grm6 glutamate metabotropic receptor 6 gene DOID:8501 fundus dystrophy ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 2750 Grpr gastrin releasing peptide receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731959 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2750 Grpr gastrin releasing peptide receptor gene DOID:12849 autistic disorder ISO RGD:731959 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2750 Grpr gastrin releasing peptide receptor gene DOID:630 genetic disease ISO RGD:731959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2750 Grpr gastrin releasing peptide receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17204703 2750 Grpr gastrin releasing peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731959 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2750 Grpr gastrin releasing peptide receptor gene DOID:9008023 Memory Disorders ISO RGD:731959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17097693 2751 Gspt1 G1 to S phase transition 1 gene DOID:5419 schizophrenia ISO RGD:1344503 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2751 Gspt1 G1 to S phase transition 1 gene DOID:630 genetic disease ISO RGD:1344503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2752 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:11554173 20220301 CTD CTD Direct Evidence: marker/mechanism 2752 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:1302516|PMID:9215686 19990101 RGD DNA:missense mutations:cds:multiple (human) 2752 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:1599324|PMID:8896573 20111018 RGD DNA:mutations: :multiple (human) 2752 Gss glutathione synthetase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:735330 D RGD:7240710 20220223 OMIM 2752 Gss glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:7240710 20130221 OMIM 2752 Gss glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to PMID:11167850|PMID:15717202|PMID:25741868|PMID:28492532|PMID:5476481|PMID:8896573 2752 Gss glutathione synthetase gene DOID:10652 Alzheimer's disease ISO RGD:735330 D RGD:5508441|PMID:15693022 20111018 RGD 2752 Gss glutathione synthetase gene DOID:2773 contact dermatitis ISO RGD:735330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2752 Gss glutathione synthetase gene DOID:2843 long QT syndrome ISO RGD:735330 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 2752 Gss glutathione synthetase gene DOID:305 carcinoma ISO RGD:735330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2752 Gss glutathione synthetase gene DOID:403 mouth disease ISO RGD:735330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 2752 Gss glutathione synthetase gene DOID:5419 schizophrenia ISO RGD:735330 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2752 Gss glutathione synthetase gene DOID:630 genetic disease ISO RGD:735330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15717202|PMID:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:8896573|PMID:9536098 2752 Gss glutathione synthetase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2752 Gss glutathione synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2752 Gss glutathione synthetase gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:11353819|PMID:17897920 20160722 RGD 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1349200 D RGD:5688741|PMID:19786980 20160201 RGD DNA:polymorphism:: -69C>T(human) 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:2841 asthma susceptibility ISO RDG:1349200 D RGD:5490988|PMID:20374258 20110922 RGD DNA:polymorphism:promoter: -69C>T (human) 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:3021 acute kidney failure ISO RGD:1349200 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:630 genetic disease ISO RGD:1349200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15616829 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349200 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2753 Gsta1 glutathione S-transferase alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349200 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2754 Gsta2 glutathione S-transferase alpha 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737133 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2754 Gsta2 glutathione S-transferase alpha 2 gene DOID:630 genetic disease ISO RGD:737133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2754 Gsta2 glutathione S-transferase alpha 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737133 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0002116 pterygium onset ISO RGD:736060 D RGD:7488957|PMID:15273656 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736060 D RGD:14700974|PMID:28689274 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050567 orofacial cleft no_association ISO RGD:736060 D RGD:12792251|PMID:11471167 20170314 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736060 D RGD:5490537|PMID:21243434 20110916 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:736060 D RGD:10450835|PMID:20303013 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050860 colorectal adenoma susceptibility ISO RGD:736060 D RGD:7495820|PMID:20375710 20131216 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:736060 D RGD:14700996|PMID:12421502 20190903 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736060 D RGD:14700962|PMID:14662415 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736060 D RGD:12792245|PMID:22213390 20170313 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050902 medulloblastoma ISO RGD:736060 D RGD:5490237|PMID:18952980 20110909 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:736060 D RGD:10450800|PMID:16620556 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736060 D RGD:10450836|PMID:15595630 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736060 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736060 D RGD:14700971|PMID:28182092 20190830 RGD associated with stomach disease 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0060500 drug allergy ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:736060 D RGD:5491000|PMID:11007341 20110926 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:736060 D RGD:10450877|PMID:15142875 20160122 RGD associated with Beta-Thalassemia; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0080199 colorectal carcinoma ISO RGD:736060 D RGD:11564625|PMID:26909940 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0080199 colorectal carcinoma ISO RGD:736060 D RGD:14700936|PMID:16886896 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0080600 COVID-19 ISO RGD:736060 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0080750 erythema nodosum susceptibility ISO RGD:736060 D RGD:7794848|PMID:22766250 20170310 RGD associated with Behcet Syndrome;DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:736060 D RGD:10450879|PMID:20672371 20160122 RGD associated with Hemoglobinopathies; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:736060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10241 thalassemia treatment ISO RGD:736060 D RGD:12798507|PMID:26691424 20170322 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10283 prostate cancer ISO RGD:736060 D RGD:14700953|PMID:12949934 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10300 Raynaud disease ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16977343 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10320 asbestosis susceptibility ISO RGD:736060 D RGD:5490588|PMID:9055949 20110920 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:736060 D RGD:10450797|PMID:22537952 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10485 esophageal atresia ISO RGD:736060 D RGD:12792229|PMID:20740495 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:736060 D RGD:12792222|PMID:20661602 20170310 RGD DNA:missense mutation:cds:p.K173N (human) (rs1065411) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer ISO RGD:736060 D RGD:14700936|PMID:16886896 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer ISO RGD:736060 D RGD:14700945|PMID:16270381 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer ISO RGD:736060 D RGD:14700947|PMID:11957090 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer ISO RGD:736060 D RGD:14700949|PMID:15112335 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer ISO RGD:736060 D RGD:14700977|PMID:16273625 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer no_association ISO RGD:736060 D RGD:14700946|PMID:24375038 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer no_association ISO RGD:736060 D RGD:14700964|PMID:12406553 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:736060 D RGD:7488951|PMID:1427788 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736060 D RGD:7488948|PMID:12873455 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736060 D RGD:7488947|PMID:11040079 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10763 hypertension IEP D RGD:7495838|PMID:15699453 20131217 RGD mRNA:decreased expression:kidney (rat) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10783 methemoglobinemia susceptibility ISO RGD:10697 D RGD:10755319|PMID:20562208 20160125 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736060 D RGD:12792224|PMID:28221473 20151012 RGD DNA:deletion, haplotype:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:10892 hypospadias ISO RGD:736060 D RGD:11576313|PMID:21300689 20170313 RGD DNA:deletion, haplotype: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11054 urinary bladder cancer ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18505952|PMID:20972438 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736060 D RGD:6906879|PMID:18544563 20080616 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11088 asphyxia neonatorum severity ISO RGD:736060 D RGD:12792218|PMID:21058530 20170310 RGD DNA:deletion, haplotype:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11166 papillomavirus infectious disease ISO RGD:736060 D RGD:2293831|PMID:16360200 20080616 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:736060 D RGD:12792215|PMID:24120392 20170310 RGD DNA:deletion, haplotype:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11934 head and neck cancer ISO RGD:736060 D RGD:14700957|PMID:20846153 20190829 RGD DNA:hypermethylation 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11934 head and neck cancer ISO RGD:736060 D RGD:14700978|PMID:16721740 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:11934 head and neck cancer ISO RGD:736060 D RGD:14700998|PMID:21133595 20190903 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1205 allergic disease susceptibility ISO RGD:736060 D RGD:5490996|PMID:16580705 20110923 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1210 optic neuritis ISO RGD:736060 D RGD:5148007|PMID:19286687 20110901 RGD DNA:deletion, haplotype:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1240 leukemia ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14694614|PMID:18505952 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736060 D RGD:10450858|PMID:16079101 20160122 RGD in male 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:12849 autistic disorder ISO RGD:10697 D RGD:5148003|PMID:20178820 20110901 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:12849 autistic disorder ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16472391 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:12849 autistic disorder ISO RGD:736060 D RGD:5490260|PMID:16472391 20110912 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:12849 autistic disorder ISO RGD:736060 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1289 neurodegenerative disease ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1324 lung cancer resistance ISO RGD:736060 D RGD:4140941|PMID:19428374 20100902 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:736060 D RGD:7488955|PMID:18334963 20131209 RGD DNA:deletion, haplotype:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:13580 cholestasis treatment IDA D RGD:14701043|PMID:25932098 20190905 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:13636 Fanconi anemia disease_progression ISO RGD:736060 D RGD:10450839|PMID:16173971 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:736060 D RGD:7495792|PMID:16020292 20131213 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736060 D RGD:7488955|PMID:18334963 20131209 RGD DNA:deletion, haplotype:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17449559 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:736060 D RGD:7488959|PMID:10534244 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease onset ISO RGD:736060 D RGD:5490167|PMID:10720475 20110906 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736060 D RGD:5148019|PMID:17403576 20110901 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1474 aggressive periodontitis ISO RGD:736060 D RGD:14700939|PMID:17524385 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis ISO RGD:736060 D RGD:10401929|PMID:24593045 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis no_association ISO RGD:736060 D RGD:12792246|PMID:20140303 20170314 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis no_association ISO RGD:736060 D RGD:14700942|PMID:22407040 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis severity ISO RGD:736060 D RGD:12792207|PMID:23758905 20170310 RGD DNA:deletion, haplotype:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1485 cystic fibrosis severity ISO RGD:736060 D RGD:12798506|PMID:10195071 20170322 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1555 urticaria ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1555 urticaria ISO RGD:736060 D RGD:5490559|PMID:16433794 20110919 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:736060 D RGD:10450838|PMID:23590899 20160121 RGD associated with sickle cell anemia; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:161 keratosis susceptibility ISO RGD:736060 D RGD:7488960|PMID:12485442 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1612 breast cancer ISO RGD:736060 D RGD:14700967|PMID:15302996 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1612 breast cancer treatment ISO RGD:736060 D RGD:10755330|PMID:23812950 20160125 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736060 D RGD:12792220|PMID:21890078 20170310 RGD DNA:deletion, haplotype:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1790 malignant mesothelioma ISO RGD:736060 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1790 malignant mesothelioma ISO RGD:736060 D RGD:7495814|PMID:7606714 20131216 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:1936 atherosclerosis ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19822795 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:736060 D RGD:2293830|PMID:17084623 20080616 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:736060 D RGD:5490267|PMID:10680782 20110912 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2377 multiple sclerosis onset ISO RGD:736060 D RGD:12792225|PMID:23932298 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:736060 D RGD:12792249|PMID:17437619 20170314 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2596 larynx cancer ISO RGD:736060 D RGD:4140943|PMID:19252926 20100902 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736060 D RGD:2293800|PMID:9111645 20080613 RGD protein:increased expression:urinary bladder mucosa 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2671 transitional cell carcinoma onset ISO RGD:736060 D RGD:2293824|PMID:18199464 20080616 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2841 asthma ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16870661|PMID:18988661 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2841 asthma ISO RGD:736060 D RGD:5490962|PMID:21051083 20110921 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2841 asthma resistance ISO RGD:736060 D RGD:4142509|PMID:17651144 20100903 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2841 asthma susceptibility ISO RGD:736060 D RGD:4140921|PMID:11075422 20100902 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2893 cervix carcinoma onset ISO RGD:736060 D RGD:7495819|PMID:10813720 20131216 RGD associated with Papillomavirus Infections;DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736060 D RGD:4140932|PMID:20297661 20100902 RGD associated with GSTT1 null deletion; DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:736060 D RGD:7488952|PMID:1988177 20131209 RGD colon and stomach;protein:decreased activity:liver (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3069 malignant astrocytoma severity ISO RGD:736060 D RGD:5490125|PMID:12241105 20110902 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3070 high grade glioma severity ISO RGD:736060 D RGD:5490163|PMID:10965818 20110906 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736060 D RGD:4142517|PMID:16919984 20110919 RGD mRNA:decreased expression:lung 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3083 chronic obstructive pulmonary disease resistance ISO RGD:736060 D RGD:4142538|PMID:15038404 20100907 RGD associated with Carcinoma, Non-Small-Cell Lung; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736060 D RGD:4140939|PMID:19664521 20100902 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3121 gallbladder cancer ISO RGD:736060 D RGD:14700928|PMID:26925680 20190827 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:736060 D RGD:11576316|PMID:20957336 20170313 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3310 atopic dermatitis ISO RGD:736060 D RGD:5490981|PMID:20674822 20110922 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:736060 D RGD:5490539|PMID:21176116 20110916 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:736060 D RGD:2306625|PMID:19102712 20090428 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:736060 D RGD:2306633|PMID:16620396 20090429 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3602 toxic encephalopathy ISO RGD:736060 D RGD:14700956|PMID:27220440 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:736060 D RGD:5490214|PMID:8923609 20110908 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:37 skin disease ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16353154 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736060 D RGD:14700943|PMID:11860825 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736060 D RGD:14700948|PMID:25432134 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:736060 D RGD:14700982|PMID:17916905 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:3883 Lynch syndrome ISO RGD:736060 D RGD:12792228|PMID:9834266 20170310 RGD DNA:deletion, haplotype: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4001 ovarian carcinoma ISO RGD:736060 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:31569996 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4029 gastritis ISO RGD:736060 D RGD:14700949|PMID:15112335 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736060 D RGD:12798510|PMID:15135176 20170322 RGD DNA:missense mutation:cds:p.K173N (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4362 cervical cancer susceptibility ISO RGD:736060 D RGD:2293825|PMID:18177825 20080616 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4448 macular degeneration ISO RGD:736060 D RGD:12792247|PMID:22410570 20170314 RGD mRNA, protein:decreased expression:pigmented layer of retina (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:736060 D RGD:7488954|PMID:21212706 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4450 renal cell carcinoma ISO RGD:736060 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:18566013|PMID:26656529 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:736060 D RGD:2293845|PMID:14504370 20080616 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:480 movement disease susceptibility ISO RGD:736060 D RGD:5490264|PMID:16160620 20110912 RGD associated with mental disorders;DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4906 small intestine adenocarcinoma ISO RGD:736060 D RGD:14700963|PMID:12940438 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:736060 D RGD:12792242|PMID:17064856 20170313 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:4947 cholangiocarcinoma ISO RGD:736060 D RGD:14700980|PMID:24049014 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5041 esophageal cancer ISO RGD:736060 D RGD:11554919|PMID:26782562 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5041 esophageal cancer ISO RGD:736060 D RGD:14700950|PMID:11833070 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5041 esophageal cancer ISO RGD:736060 D RGD:14700964|PMID:12406553 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5041 esophageal cancer ISO RGD:736060 D RGD:14700969|PMID:23749488 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5082 liver cirrhosis IEP D RGD:7771534|PMID:20141739 20131218 RGD protein:decreased expression:liver (rat) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5082 liver cirrhosis ISO RGD:736060 D RGD:11097429|PMID:26548378 20190829 RGD associated with Hepatitis C, Chronic 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:736060 D RGD:1358668|PMID:11181039 19990101 RGD DNA:deletion::allele D (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:736060 D RGD:5490265|PMID:15318028 20110912 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:5773 oral submucous fibrosis ISO RGD:736060 D RGD:14701000|PMID:22752755 20190903 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:615 leukopenia susceptibility ISO RGD:736060 D RGD:10450844|PMID:19555437 20160122 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:670 amphetamine abuse ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19254865 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7892276 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736060 D RGD:14700951|PMID:20683151 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:736060 D RGD:14700979|PMID:20672314 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736060 D RGD:7488953|PMID:11859714 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736060 D RGD:5490993|PMID:16887863 20110923 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736060 D RGD:5490994|PMID:16870093 20110923 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736060 D RGD:5490998|PMID:15940757 20110923 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:783 end stage renal disease ISO RGD:736060 D RGD:14700960|PMID:24339523 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:824 periodontitis ISO RGD:736060 D RGD:14700983|PMID:15491310 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:83 cataract no_association ISO RGD:736060 D RGD:7488950|PMID:8631631 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:83 cataract susceptibility ISO RGD:736060 D RGD:7488949|PMID:7781744 20131209 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:850 lung disease susceptibility ISO RGD:736060 D RGD:4142512|PMID:15928955 20100903 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8567 Hodgkin's lymphoma disease_progression ISO RGD:736060 D RGD:10450802|PMID:21916526 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8568 infectious mononucleosis susceptibility ISO RGD:736060 D RGD:10450797|PMID:22537952 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8577 ulcerative colitis ISO RGD:736060 D RGD:11538341|PMID:26604430 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8577 ulcerative colitis ISO RGD:736060 D RGD:14700999|PMID:28626742 20190903 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:736060 D RGD:5490554|PMID:17565649 20110919 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8618 oral cavity cancer ISO RGD:736060 D RGD:14700938|PMID:23057317 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8618 oral cavity cancer ISO RGD:736060 D RGD:14700965|PMID:17461521 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8618 oral cavity cancer ISO RGD:736060 D RGD:14700968|PMID:17418613 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:736060 D RGD:10755328|PMID:11906705 20160125 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:736060 D RGD:10755403|PMID:16313269 20160127 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8778 Crohn's disease ISO RGD:736060 D RGD:11538341|PMID:26604430 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8923 skin melanoma susceptibility ISO RGD:736060 D RGD:12792221|PMID:11352862 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:736060 D RGD:7495818|PMID:19752172 20131216 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:8997 polycythemia vera susceptibility ISO RGD:736060 D RGD:10450875|PMID:22018952 20160122 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9000307 Presbycusis no_association ISO RGD:736060 D RGD:7495803|PMID:15891640 20131213 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:736060 D RGD:7495801|PMID:17513527 20131213 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9000548 Drug-induced Anemia susceptibility ISO RGD:736060 D RGD:10755330|PMID:23812950 20180329 RGD associated with breast cancer 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736060 D RGD:14700939|PMID:17524385 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001018 Mouth Abnormalities susceptibility ISO RGD:736060 D RGD:12792248|PMID:16521944 20170314 RGD DNA:deletion, haplotype: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736060 D RGD:11060494|PMID:26937962 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736060 D RGD:14700973|PMID:15932176 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001341 Chloracne ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001472 Nasal Polyps ISO RGD:736060 D RGD:4142528|PMID:16550944 20100903 RGD associated with GSTT1 null genotype:DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:2314952|PMID:19595018 20100902 RGD mRNA:decreased expression:lung 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736060 D RGD:7495818|PMID:19752172 20180305 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002174 Disease Susceptibility ISO RGD:736060 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16537716|PMID:31569996 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736060 D RGD:12792219|PMID:19147266 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:736060 D RGD:10450795|PMID:22310945 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002265 Kidney Neoplasms susceptibility ISO RGD:736060 D RGD:2293828|PMID:17617661 20080616 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:18304461|PMID:22564066 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:736060 D RGD:7495798|PMID:16535824 20131213 RGD DNA:deletion:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:736060 D RGD:7488956|PMID:19643173 20131209 RGD DNA:deletion, haplotype:cds (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9003049 Femur Head Necrosis ISO RGD:736060 D RGD:10450838|PMID:23590899 20180820 RGD associated with sickle cell anemia; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9003197 Vaso-occlusive Crisis severity ISO RGD:736060 D RGD:10450860|PMID:24840051 20160122 RGD associated with Anemia, Sickle Cell;DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9003507 Premature Birth susceptibility ISO RGD:736060 D RGD:10450837|PMID:22949524 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9003566 Mesothelioma ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17290392 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736060 D RGD:14700966|PMID:17397002 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9004203 Chromosome Breakage ISO RGD:736060 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27406225 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:736060 D RGD:2293826|PMID:18162130 20080616 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia susceptibility ISO RGD:736060 D RGD:5688741|PMID:19786980 20170323 RGD associated with Ovarian Neoplasms;DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:736060 D RGD:10450835|PMID:20303013 20180821 RGD associated with diffuse large B-cell lymphoma; DNA:deletion:cds: 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159492|PMID:24036326 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005065 Leukoplakia ISO RGD:736060 D RGD:14701001|PMID:14735473 20190903 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343128 D RGD:1331525|PMID:15118671 19990101 GAD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736060 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802|PMID:22072123|PMID:24852519 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005175 Ulcer susceptibility ISO RGD:736060 D RGD:10450838|PMID:23590899 20160121 RGD associated with sickle cell anemia; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16703596 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005725 Iron Overload susceptibility ISO RGD:736060 D RGD:10755320|PMID:19838709 20160125 RGD associated with Beta-Thalassemia;DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9005835 Congenital Abnormalities susceptibility ISO RGD:736060 D RGD:12792231|PMID:22570144 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006024 Hypotension IEP D RGD:1625563|PMID:15942020 20131218 RGD mRNA:increased expression:kidney (rat) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:158014894|PMID:29137244 20230320 RGD mRNA, protein:decreased expression:kidney 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006281 Temporomandibular Joint Disorders susceptibility ISO RGD:736060 D RGD:5490535|PMID:21615938 20110916 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:736060 D RGD:10755329|PMID:10383893 20160125 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:736060 D RGD:10450857|PMID:11792413 20160122 RGD associated with Breast Neoplasms; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006592 Sjögren-Mikulicz Syndrome susceptibility ISO RGD:736060 D RGD:5491001|PMID:10616008 20110926 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:736060 D RGD:14700976|PMID:29452132 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20951227 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9006738 Hypertension Resistant to Conventional Therapy susceptibility ISO RGD:736060 D RGD:7495846|PMID:19279659 20131217 RGD DNA:deletion:cds: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007096 Stroke susceptibility ISO RGD:736060 D RGD:10450838|PMID:23590899 20160121 RGD associated with sickle cell anemia; 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736060 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:21214675 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7241599|PMID:21138988 20190508 RGD protein:increased expression:liver 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17465707|PMID:18666253 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736060 D RGD:14700937|PMID:29523098 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736060 D RGD:14700970|PMID:25501156 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:736060 D RGD:14700941|PMID:24903797 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:736060 D RGD:14700959|PMID:24465778 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007456 Female Infertility ISO RGD:736060 D RGD:11556525|PMID:25010410 20170310 RGD DNA:deletion:: (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:736060 D RGD:12798508|PMID:15125256 20170322 RGD DNA:deletion, haplotype: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9007651 Chronic Bronchitis severity ISO RGD:736060 D RGD:4142513|PMID:9187680 20100903 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20878130 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9008443 Colorectal Neoplasms no_association ISO RGD:736060 D RGD:12798517|PMID:8824506 20170323 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:736060 D RGD:12798518|PMID:23946381 20170323 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:736060 D RGD:2293827|PMID:18080216 20080616 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:736060 D RGD:2293798|PMID:17624589 20080613 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736060 D RGD:5490989|PMID:20226777 20110922 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736060 D RGD:10755318|PMID:18035413 20160125 RGD DNA:deletion: : (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736060 D RGD:10755405|PMID:22924777 20160127 RGD DNA:methylation: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:736060 D RGD:10450822|PMID:11488937 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer ISO RGD:736060 D RGD:11353274|PMID:26406947 20190829 RGD DNA:deletion 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer ISO RGD:736060 D RGD:14700958|PMID:10445390 20190829 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:736060 D RGD:14700961|PMID:27893202 20190829 RGD DNA:CNVs 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9256 colorectal cancer no_association ISO RGD:736060 D RGD:14700954|PMID:22234881 20190829 RGD DNA:CNVs 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9261 nasopharynx carcinoma ISO RGD:736060 D RGD:14700933|PMID:24711137 20190827 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9261 nasopharynx carcinoma no_association ISO RGD:736060 D RGD:14700955|PMID:19448408 20190829 RGD DNA:SNP: :1270533T>G (human) 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:736060 D RGD:2306632|PMID:16927413 20090429 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22652274 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736060 D RGD:2306628|PMID:16413497 20090428 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736060 D RGD:2306627|PMID:17979505 20090428 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736060 D RGD:5490963|PMID:20739761 20110921 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9538 multiple myeloma no_association IAGP D RGD:10450846|PMID:15136237 20160122 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9538 multiple myeloma severity ISO RGD:736060 D RGD:10450826|PMID:17653713 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9655 oral mucosa leukoplakia ISO RGD:736060 D RGD:14700975|PMID:18507060 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9669 senile cataract ISO RGD:736060 D RGD:14700972|PMID:22446016 20190830 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736060 D RGD:4140927|PMID:20495862 20100902 RGD DNA:deletion: : 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:736060 D RGD:2306629|PMID:16390810 20090428 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736060 D RGD:10450829|PMID:10666194 20160121 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736060 D RGD:10755409|PMID:12827651 20160127 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736060 D RGD:10755321|PMID:15738600 20160125 RGD 2755 Gstm1 glutathione S-transferase mu 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736060 D RGD:10755410|PMID:14607752 20160127 RGD 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:0080600 COVID-19 ISO RGD:735264 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:10763 hypertension IEP D RGD:2302178|PMID:18008142 20081125 RGD 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:10763 hypertension IEP D RGD:631154|PMID:12624007 20131217 RGD mRNA:decreased expression:kidney (rat) 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:12849 autistic disorder ISO RGD:735264 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:1289 neurodegenerative disease ISO RGD:735264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:14250 Down syndrome ISO RGD:735264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:3021 acute kidney failure ISO RGD:735264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19900515 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:630 genetic disease ISO RGD:735264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736060 D RGD:1331525|PMID:15118671 20140211 GAD 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2756 Gstm2 glutathione S-transferase mu 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:732257 D RGD:8547939|PMID:19338043 20140303 RGD DNA:SNP: :(rs1695)(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0050860 colorectal adenoma ISO RGD:732257 D RGD:7495820|PMID:20375710 20140303 RGD DNA:SNP: :p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732257 D RGD:10755432|PMID:16982972 20160127 RGD mRNA,protein:decreased expression:mucosa: 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:732257 D RGD:10755416|PMID:23278642 20160127 RGD DNA:missense mutation:cds:313A>G (p.I105V)(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732257 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm IEP D RGD:10401942|PMID:22272023 20151013 RGD associated with Diabetes Mellitus, Experimental 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:2563599|PMID:7585603|PMID:15526359|PMID:16332721|PMID:20188851|PMID:21785164 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:14700971|PMID:28182092 20190830 RGD associated with stomach disease 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:10401933|PMID:21092749 20151012 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:10401944|PMID:23981577 20151013 RGD associated with Metabolic Syndrome X 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:732257 D RGD:5490995|PMID:16297214 20110923 RGD associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:732257 D RGD:5148021|PMID:17250723 20110901 RGD DNA:polymorphism:exon:A>G313 (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer ISO RGD:732257 D RGD:6906883|PMID:9111193 20121018 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732257 D RGD:4142515|PMID:17067754 20100903 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:732257 D RGD:10755404|PMID:12010828 20160127 RGD DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1059 intellectual disability ISO RGD:732257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10591 pre-eclampsia susceptibility ISO RGD:732257 D RGD:737707|PMID:11826024 20150305 RGD DNA:missense mutation:cds:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620115 D RGD:10401913|PMID:23211594 20151009 RGD mRNA:decreased expression:cerebral cortex 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:732257 D RGD:10401912|PMID:24584466 20151009 RGD DNA:polymorphisms 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732257 D RGD:5490271|PMID:17911365 20110912 RGD DNA:polymorphism:exon: 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:732257 D RGD:5490123|PMID:15805147 20110902 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10763 hypertension ISO RGD:732257 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:24915237 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732257 D RGD:12792224|PMID:28221473 20151012 RGD DNA:deletion, haplotype:: (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732257 D RGD:8547932|PMID:22487578 20140228 RGD DNA:polymorphism::(rs1695)(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer IEP D RGD:10401939|PMID:21213404 20151013 RGD mRNA:increased expression:urinary bladder 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7729958|PMID:12500666|PMID:22306368 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:6906879|PMID:18544563 20121018 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:6906883|PMID:9111193 20121018 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11132 prostatic hypertrophy treatment IEP D RGD:10401934|PMID:24205794 20151012 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1115 sarcoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11476 osteoporosis ISO RGD:732257 D RGD:10401929|PMID:24593045 20151012 RGD associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:732257 D RGD:4142520|PMID:14726935 20100903 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1205 allergic disease susceptibility ISO RGD:732257 D RGD:5133266|PMID:20526719 20100903 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:12361 Graves' disease susceptibility ISO RGD:732257 D RGD:8547807|PMID:17980001 20140224 RGD DNA:polymorphism: : 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:12849 autistic disorder ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17404132 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:13580 cholestasis treatment IEP D RGD:10401941|PMID:23960717 20151013 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:732257 D RGD:10450848|PMID:19635899 20160122 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17190945|PMID:23721876 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:1358669|PMID:9802272 19990101 RGD DNA:del: : 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1485 cystic fibrosis ISO RGD:732257 D RGD:1331525|PMID:15118671 20140211 GAD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1579 respiratory system disease susceptibility ISO RGD:732257 D RGD:4140942|PMID:19403501 20100902 RGD DNA:SNPs: :p.I105V (rs1695), rs749174, rs6591255 (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1612 breast cancer treatment ISO RGD:732257 D RGD:10755330|PMID:23812950 20160125 RGD DNA:SNP:cds:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732257 D RGD:6906882|PMID:11511301 20121018 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer ISO RGD:732257 D RGD:2317805|PMID:19536452 20100427 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732257 D RGD:2317804|PMID:19786118 20100427 RGD DNA:SNP:cds:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:1909 melanoma ISO RGD:732257 D RGD:8547833|PMID:23568549 20140226 RGD DNA:polymorphism:cds:p.I50V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:732257 D RGD:5490267|PMID:10680782 20110912 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2394 ovarian cancer treatment ISO RGD:732257 D RGD:5688741|PMID:19786980 20160201 RGD DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2773 contact dermatitis ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:11994713|PMID:16870661|PMID:18988661|PMID:24117884|PMID:29411558 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:4140947|PMID:18709160 20100902 RGD DNA:SNP: :p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:5490985|PMID:20858151 20110922 RGD DNA:SNPs: :p.I105V, p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:5490999|PMID:15693909 20110926 RGD DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma disease_progression ISO RGD:732257 D RGD:4140951|PMID:18057098 20100902 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma no_association ISO RGD:732257 D RGD:4142519|PMID:16176403 20100903 RGD DNA:SNPs: :p.I105V, p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:1620115 D RGD:4140946|PMID:18787219 20100902 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:732257 D RGD:4142526|PMID:10806136 20100903 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma susceptibility ISO RGD:732257 D RGD:5490991|PMID:20210814 20110922 RGD DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:2998 testicular cancer ISO RGD:732257 D RGD:6906883|PMID:9111193 20121018 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:6903954|PMID:20798258 20121009 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:305 carcinoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11196146 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:732257 D RGD:5490125|PMID:12241105 20110902 RGD DNA:polymorphism:exon:p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16899598 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:732257 D RGD:5490124|PMID:15006924 20110902 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732257 D RGD:4142511|PMID:17532303 20100903 RGD DNA:SNPs: :p.I105V, p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732257 D RGD:4142517|PMID:16919984 20100903 RGD mRNA:decreased expression:lung 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:732257 D RGD:4142514|PMID:17439673 20100903 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732257 D RGD:4140938|PMID:20467983 20100902 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis ISO RGD:732257 D RGD:5490981|PMID:20674822 20110922 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:732257 D RGD:5490540|PMID:19842992 20110916 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16109392 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3347 osteosarcoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:732257 D RGD:5490250|PMID:16973168 20110909 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3426 vestibular disease ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:2317809|PMID:16537562 20100427 RGD DNA:methylation: : 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:2317811|PMID:12488200 20100427 RGD mRNA, protein:increased expression:pancreas 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma resistance ISO RGD:732257 D RGD:2317806|PMID:17265526 20100427 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:732257 D RGD:5490249|PMID:17022435 20110909 RGD DNA:polymorphism: : 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732257 D RGD:14700982|PMID:17916905 20190830 RGD DNA:polymorphism: :p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732257 D RGD:4142516|PMID:17044913 20100903 RGD associated with Scleroderma, Systemic 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3904 bronchus carcinoma ISO RGD:732257 D RGD:4142527|PMID:10749130 20100903 RGD mRNA:decreased expression:bronchus, epithelial cell 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:4140950|PMID:18258609 20100902 RGD DNA:SNP: :p.A114V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732257 D RGD:4140944|PMID:19174490 20100902 RGD DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:409 liver disease susceptibility ISO RGD:732257 D RGD:4142524|PMID:12297838 20100903 RGD associated with Cystic Fibrosis 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4250 conjunctivochalasis ISO RGD:732257 D RGD:8547943|PMID:20861728 20140313 RGD protein:increased expression:tear: 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:8547946|PMID:20464042 20140303 RGD protein:increased expression:kidney 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732257 D RGD:6906878|PMID:10383153 20121017 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:480 movement disease severity ISO RGD:732257 D RGD:5490234|PMID:19051221 20110909 RGD associated with with schizophrenia; DNA:polymorphism:exon:p.I105V (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:732257 D RGD:4140940|PMID:19484794 20100902 RGD DNA:hypermethylation:promoter (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma ISO RGD:732257 D RGD:2317198|PMID:15467712 20100427 RGD DNA:hypermethylation:promoter 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:732257 D RGD:14401711|PMID:12805482 20190515 RGD human cell line in a mouse model 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4961 bone marrow disease susceptibility ISO RGD:732257 D RGD:10755423|PMID:16995867 20160127 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:4990 essential tremor ISO RGD:732257 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:18215156 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:557 kidney disease ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868187 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease severity ISO RGD:732257 D RGD:5490233|PMID:19223573 20110909 RGD DNA:polymorphism:exon:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:630 genetic disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:670 amphetamine abuse ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:14401712|PMID:22536438 20190515 RGD DNA:increased methylation:promoter 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:732257 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:74 hematopoietic system disease susceptibility ISO RGD:732257 D RGD:10755418|PMID:18540691 20160127 RGD DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8283 peritonitis ISO RGD:732257 D RGD:4140945|PMID:18962899 20100902 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:850 lung disease ISO RGD:732257 D RGD:4140945|PMID:18962899 20100902 RGD Acute Lung Injury 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20843134 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ IEP D RGD:10401940|PMID:24312188 20151013 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8646 substance-induced psychosis ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8692 myeloid leukemia susceptibility ISO RGD:732257 D RGD:10755535|PMID:20843134 20160201 RGD DNA:SNP:cds:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:8893 psoriasis ISO RGD:732257 D RGD:5491007|PMID:21805023 20110927 RGD protein:increased expression:epidermis: 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:732257 D RGD:2317808|PMID:16760134 20100427 RGD DNA:SNP:cds:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21133646|PMID:21364753 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9000918 Disease Progression ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9000970 Focal Nodular Hyperplasia IEP D RGD:152998958|PMID:3965145 20220708 RGD protein:increased expression:liver (rat) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:152998958|PMID:3965145 20220708 RGD protein:increased expression:liver (rat) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2317823|PMID:12016164 20100428 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2563599|PMID:3124819|PMID:7585603|PMID:20188851 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11196146|PMID:15538743|PMID:17173048|PMID:19223546|PMID:22581815 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9002315 Kidney Calculi ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:732257 D RGD:10755412|PMID:25008867 20160127 RGD DNA:polymorphism: : rs1695(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9003157 Respiratory Sounds ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18950799 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:732257 D RGD:4140949|PMID:18335753 20100902 RGD protein:increased expression:larynx 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:732257 D RGD:4142523|PMID:17181111 20100903 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620115 D RGD:6903953|PMID:17142801 20121009 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:732257 D RGD:10755415|PMID:17593093 20160127 RGD associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:732257 D RGD:10755330|PMID:23812950 20180329 RGD DNA:SNP:cds:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17909032 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9005452 Ureteral Calculi ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9005700 Airway Obstruction severity ISO RGD:732257 D RGD:4142525|PMID:10919500 20100903 RGD associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9005749 Necrosis ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14710442 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9005837 Cholangiofibrosis IEP D RGD:10401932|PMID:22576464 20151013 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9007073 Cough ISO RGD:732257 D RGD:4140948|PMID:18447907 20100902 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9007090 Experimental Seizures treatment IEP D RGD:10401935|PMID:22038365 20151012 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25226513 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:732257 D RGD:4142522|PMID:18976645 20100903 RGD associated with Cystic Fibrosis 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion treatment IDA D RGD:10401930|PMID:16645134 20151012 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:19922504 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:10755328|PMID:11906705 20160201 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:10755420|PMID:11553769 20160127 RGD chemotherapy-induced; 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:10755422|PMID:21729529 20160127 RGD DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732257 D RGD:5490963|PMID:20739761 20110921 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9471 meningitis ISO RGD:732257 D RGD:5491002|PMID:9262228 20110926 RGD protein:increased expression:cerebrospinal fluid 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:732257 D RGD:10755413|PMID:23953887 20160127 RGD 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma no_association ISO RGD:732257 D RGD:10755419|PMID:18061666 20160127 RGD DNA:polymorphism:cds:p.I105V(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma treatment ISO RGD:732257 D RGD:11075094|PMID:17512053 20160506 RGD DNA:polymorphism: : 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732257 D RGD:8547933|PMID:10892871 20140228 RGD DNA:polymorphism: : 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9675 pulmonary emphysema ISO RGD:732257 D RGD:4140935|PMID:20525719 20100902 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:732257 D RGD:10450829|PMID:10666194 20160121 RGD DNA:haplotype:cds: 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732257 D RGD:10755417|PMID:23979883 20160127 RGD DNA:polymorphism: :1578 a>G(human) 2758 Gstp1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732257 D RGD:10755321|PMID:15738600 20160125 RGD DNA:transition mutation:exon: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050567 orofacial cleft susceptibility ISO RGD:736934 D RGD:12792210|PMID:11505167 20170309 RGD DNA:deletion:cds: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736934 D RGD:5490537|PMID:21243434 20110916 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050741 alcohol dependence ISO RGD:736934 D RGD:14700988|PMID:29582627 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:736934 D RGD:10450835|PMID:20303013 20160121 RGD DNA:deletion:cds: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:736934 D RGD:14700996|PMID:12421502 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050861 colorectal adenocarcinoma onset ISO RGD:736934 D RGD:14701003|PMID:12682546 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050902 medulloblastoma ISO RGD:736934 D RGD:5490237|PMID:18952980 20110909 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:736934 D RGD:10450772|PMID:8569364 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:736934 D RGD:10450840|PMID:23859717 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:736934 D RGD:10450779|PMID:9164324 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736934 D RGD:14700971|PMID:28182092 20190830 RGD associated with stomach disease 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0060318 acute promyelocytic leukemia susceptibility ISO RGD:736934 D RGD:10755406|PMID:21875282 20160127 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:736934 D RGD:5491000|PMID:11007341 20110926 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0080178 mucositis treatment ISO RGD:736934 D RGD:10450835|PMID:20303013 20180821 RGD associated with diffuse large B-cell lymphoma; DNA:deletion:cds: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0080199 colorectal carcinoma ISO RGD:736934 D RGD:14700936|PMID:16886896 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:0080600 COVID-19 severity ISO RGD:736934 D RGD:30309963|PMID:32454047 20200623 RGD DNA:deletion: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10128 venous insufficiency susceptibility ISO RGD:736934 D RGD:7794848|PMID:22766250 20140114 RGD associated with Behcet Syndrome;DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:736934 D RGD:2293829|PMID:17572208 20080616 RGD DNA:polymorphism 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10300 Raynaud disease ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:16977343 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10320 asbestosis ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:17563610 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:736934 D RGD:10450797|PMID:22537952 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:736934 D RGD:12792222|PMID:20661602 20170310 RGD DNA:missense mutation:cds:p.V155I (human) (rs2266637) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10534 stomach cancer ISO RGD:736934 D RGD:14700936|PMID:16886896 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10534 stomach cancer ISO RGD:736934 D RGD:14700984|PMID:22139978 20190830 RGD associated with Helicobacter Infections 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10534 stomach cancer ISO RGD:736934 D RGD:14700994|PMID:11819818 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736934 D RGD:5490271|PMID:17911365 20110912 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736934 D RGD:5490213|PMID:10215103 20110908 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736934 D RGD:7794823|PMID:23827458 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736934 D RGD:7794825|PMID:23206929 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736934 D RGD:7794820|PMID:23747403 20140113 RGD DNA:deletion, haplotype:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10763 hypertension ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10763 hypertension ISO RGD:736934 D RGD:5490587|PMID:11477481 20110920 RGD associated with scleroderma, systemic;DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736934 D RGD:12792224|PMID:28221473 20170310 RGD DNA:deletion, haplotype:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10892 hypospadias ISO RGD:736934 D RGD:11576313|PMID:21300689 20170313 RGD DNA:deletion, haplotype: : (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:10923 sickle cell anemia susceptibility ISO RGD:736934 D RGD:10450863|PMID:23049400 20160122 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736934 D RGD:6906879|PMID:18544563 20080616 RGD DNA:deletion: : (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:736934 D RGD:12792215|PMID:24120392 20170309 RGD DNA:deletion, haplotype:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:11934 head and neck cancer ISO RGD:736934 D RGD:14700998|PMID:21133595 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1210 optic neuritis susceptibility ISO RGD:736934 D RGD:5148007|PMID:19286687 20110901 RGD DNA:deletion, haplotype:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:12241 beta thalassemia susceptibility ISO RGD:736934 D RGD:10755320|PMID:19838709 20160125 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1227 neutropenia susceptibility ISO RGD:736934 D RGD:10450844|PMID:19555437 20160122 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1240 leukemia no_association ISO RGD:736934 D RGD:10755326|PMID:18414197 20160125 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:12449 aplastic anemia no_association ISO RGD:736934 D RGD:10450878|PMID:16227674 20160122 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736934 D RGD:10450790|PMID:14681495 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1287 cardiovascular system disease severity ISO RGD:736934 D RGD:2306630|PMID:15927971 20090428 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1324 lung cancer susceptibility ISO RGD:736934 D RGD:4140924|PMID:20542754 20100902 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:13636 Fanconi anemia treatment ISO RGD:736934 D RGD:10450839|PMID:16173971 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:13641 exfoliation syndrome ISO RGD:736934 D RGD:7794853|PMID:18055805 20140114 RGD mRNA:decreased expression:ciliary processes, iris (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:736934 D RGD:7495792|PMID:16020292 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736934 D RGD:7794822|PMID:21151336 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:14330 Parkinson's disease ISO RGD:736934 D RGD:5490165|PMID:10953187 20110906 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:25325283 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1474 aggressive periodontitis ISO RGD:736934 D RGD:14700939|PMID:17524385 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1485 cystic fibrosis no_association ISO RGD:736934 D RGD:12792246|PMID:20140303 20170314 RGD DNA:deletion: : (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1485 cystic fibrosis no_association ISO RGD:736934 D RGD:14700942|PMID:22407040 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1485 cystic fibrosis severity ISO RGD:736934 D RGD:10401929|PMID:24593045 20170310 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1485 cystic fibrosis severity ISO RGD:736934 D RGD:12792207|PMID:23758905 20170309 RGD DNA:deletion, haplotype:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:736934 D RGD:10450838|PMID:23590899 20160121 RGD associated with Anemia, Sickle Cell;DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736934 D RGD:2293799|PMID:10564681 20080613 RGD DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:162 cancer ISO RGD:736934 D RGD:14701044|PMID:12552971 20190920 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736934 D RGD:12792220|PMID:21890078 20170309 RGD DNA:deletion, haplotype:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:1826 epilepsy ISO RGD:736934 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:736934 D RGD:2293830|PMID:17084623 20080616 RGD DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:231 motor neuron disease susceptibility ISO RGD:736934 D RGD:5490213|PMID:10215103 20110908 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2355 anemia ISO RGD:736934 D RGD:10450867|PMID:19096080 20160122 RGD associated with kidney transplantation; 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2377 multiple sclerosis ISO RGD:736934 D RGD:12792225|PMID:23932298 20170310 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2377 multiple sclerosis no_association ISO RGD:736934 D RGD:5490267|PMID:10680782 20170310 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736934 D RGD:2293800|PMID:9111645 20080613 RGD protein:increased expression:urinary bladder mucosa 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2841 asthma ISO RGD:736934 D RGD:4142539|PMID:15300848 20100907 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2841 asthma ISO RGD:736934 D RGD:5490962|PMID:21051083 20110921 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2841 asthma susceptibility ISO RGD:736934 D RGD:4140921|PMID:11075422 20100902 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2893 cervix carcinoma susceptibility ISO RGD:736934 D RGD:7495819|PMID:10813720 20140114 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736934 D RGD:4140932|PMID:20297661 20100902 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:305 carcinoma ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3068 glioblastoma ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:16874663 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736934 D RGD:4140939|PMID:19664521 20100902 RGD associated with GSTM1 null mutation; DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736934 D RGD:4140928|PMID:20402821 20100902 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3310 atopic dermatitis ISO RGD:736934 D RGD:5490540|PMID:19842992 20110916 RGD DNA:deletion, haplotype: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:736934 D RGD:2306625|PMID:19102712 20090428 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:736934 D RGD:2306633|PMID:16620396 20090429 RGD DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736934 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:17173682 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736934 D RGD:14700948|PMID:25432134 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736934 D RGD:14700982|PMID:17916905 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:3883 Lynch syndrome ISO RGD:736934 D RGD:12792228|PMID:9834266 20170310 RGD DNA:deletion, haplotype:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:4001 ovarian carcinoma ISO RGD:736934 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:31569996 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736934 D RGD:14700985|PMID:11854392 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:409 liver disease ISO RGD:736934 D RGD:14700987|PMID:21968078 20190830 RGD associated with Graft vs Host Disease 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:4362 cervical cancer susceptibility ISO RGD:736934 D RGD:2293825|PMID:18177825 20080616 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:4450 renal cell carcinoma ISO RGD:736934 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:18566013|PMID:26656529 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:736934 D RGD:2293845|PMID:14504370 20080616 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:736934 D RGD:12792242|PMID:17064856 20170313 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:5041 esophageal cancer ISO RGD:736934 D RGD:14700969|PMID:23749488 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:5082 liver cirrhosis ISO RGD:736934 D RGD:11097429|PMID:26548378 20190829 RGD associated with Hepatitis C, Chronic 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:574 peripheral nervous system disease susceptibility ISO RGD:736934 D RGD:10450871|PMID:21435719 20160122 RGD associated with multiple myeloma; 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:736934 D RGD:14700981|PMID:18573513 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:736934 D RGD:14701000|PMID:22752755 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:615 leukopenia susceptibility ISO RGD:736934 D RGD:10450844|PMID:19555437 20160122 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:630 genetic disease ISO RGD:736934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:670 amphetamine abuse ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:18186040|PMID:19254865 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:736934 D RGD:5490992|PMID:18328165 20110922 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736934 D RGD:14700951|PMID:20683151 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:736934 D RGD:14700979|PMID:20672314 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736934 D RGD:14401714|PMID:23053942 20190515 RGD DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736934 D RGD:5490982|PMID:20597111 20110922 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:736934 D RGD:5490553|PMID:19473562 20110919 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736934 D RGD:5490983|PMID:20401725 20110922 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:783 end stage renal disease susceptibility ISO RGD:736934 D RGD:2306631|PMID:15492856 20090428 RGD associated with Diabetes Mellitus;DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:83 cataract no_association ISO RGD:736934 D RGD:7794839|PMID:22876127 20140114 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:83 cataract susceptibility ISO RGD:736934 D RGD:7794821|PMID:20335620 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:850 lung disease ISO RGD:736934 D RGD:5490587|PMID:11477481 20110920 RGD associated with scleroderma, systemic;DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8567 Hodgkin's lymphoma disease_progression ISO RGD:736934 D RGD:10450802|PMID:21916526 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8568 infectious mononucleosis susceptibility ISO RGD:736934 D RGD:10450797|PMID:22537952 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8577 ulcerative colitis ISO RGD:736934 D RGD:11538341|PMID:26604430 20190829 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:736934 D RGD:5490554|PMID:17565649 20110919 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8618 oral cavity cancer ISO RGD:736934 D RGD:14700997|PMID:22594240 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8618 oral cavity cancer ISO RGD:736934 D RGD:14701001|PMID:14735473 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:736934 D RGD:10755327|PMID:18760837 20160125 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8692 myeloid leukemia no_association ISO RGD:736934 D RGD:10755403|PMID:16313269 20160127 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8692 myeloid leukemia susceptibility ISO RGD:736934 D RGD:10755324|PMID:21254556 20160125 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8778 Crohn's disease susceptibility ISO RGD:736934 D RGD:5490554|PMID:17565649 20110919 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8923 skin melanoma susceptibility ISO RGD:736934 D RGD:12792221|PMID:11352862 20170309 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:736934 D RGD:2306630|PMID:15927971 20140113 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:736934 D RGD:7495818|PMID:19752172 20140114 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9000117 Esophageal Neoplasms susceptibility ISO RGD:736934 D RGD:5490562|PMID:15526353 20110919 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9000307 Presbycusis no_association ISO RGD:736934 D RGD:7495803|PMID:15891640 20140114 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:736934 D RGD:7794838|PMID:22965834 20140114 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9000548 Drug-induced Anemia susceptibility ISO RGD:736934 D RGD:10755330|PMID:23812950 20180329 RGD associated with breast cancer 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9000972 Fever treatment ISO RGD:736934 D RGD:10450835|PMID:20303013 20180821 RGD associated with diffuse large B-cell lymphoma; DNA:deletion:cds: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9001018 Mouth Abnormalities no_association ISO RGD:736934 D RGD:12792235|PMID:18449058 20170313 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736934 D RGD:11060494|PMID:26937962 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736934 D RGD:14700973|PMID:15932176 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9001472 Nasal Polyps ISO RGD:736934 D RGD:4142518|PMID:19701760 20100903 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9001513 Asthenozoospermia ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:19303595 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736934 D RGD:2306630|PMID:15927971 20140113 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736934 D RGD:7495818|PMID:19752172 20140114 RGD associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002174 Disease Susceptibility ISO RGD:736934 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31569996 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736934 D RGD:12792219|PMID:19147266 20170309 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:736934 D RGD:10450795|PMID:22310945 20160121 RGD DNA:deletion, haplotype:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002265 Kidney Neoplasms susceptibility ISO RGD:736934 D RGD:2293828|PMID:17617661 20080616 RGD DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:16998812|PMID:17507624|PMID:22564066 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:736934 D RGD:7794850|PMID:15811702 20140114 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:736934 D RGD:7495798|PMID:16535824 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:736934 D RGD:10450838|PMID:23590899 20160121 RGD associated with sickle cell anemia; 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9003197 Vaso-occlusive Crisis ISO RGD:736934 D RGD:10450838|PMID:23590899 20180820 RGD associated with Anemia, Sickle Cell;DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9003507 Premature Birth ISO RGD:736934 D RGD:12792239|PMID:18320229 20170313 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9003507 Premature Birth susceptibility ISO RGD:736934 D RGD:10450837|PMID:22949524 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736934 D RGD:14700966|PMID:17397002 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004283 Transplant Rejection ISO RGD:736934 D RGD:10450792|PMID:20348973 20160121 RGD associated with Hemoglobinopathies;DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004289 Drug-Induced Leukopenia severity ISO RGD:736934 D RGD:10450835|PMID:20303013 20180821 RGD associated with diffuse large B-cell lymphoma; DNA:deletion:cds: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:26295053 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:736934 D RGD:10755330|PMID:23812950 20160125 RGD associated with breast cancer 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:736934 D RGD:10450835|PMID:20303013 20180821 RGD associated with diffuse large B-cell lymphoma; DNA:deletion:cds: 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:16537716|PMID:16980312|PMID:23159492 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9005065 Leukoplakia ISO RGD:736934 D RGD:14701002|PMID:16475728 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736934 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:17000715|PMID:24852519 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia susceptibility ISO RGD:736934 D RGD:10450873|PMID:17367411 20160122 RGD associated with neoplasms; 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9005725 Iron Overload ISO RGD:736934 D RGD:10755320|PMID:19838709 20170322 RGD associated with Beta-Thalassemia;DNA:deletion: : (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9005775 Perinatal Asphyxia severity ISO RGD:736934 D RGD:12792218|PMID:21058530 20170309 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9005835 Congenital Abnormalities susceptibility ISO RGD:736934 D RGD:12792223|PMID:23873097 20170310 RGD DNA:deletion:: (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:736934 D RGD:10450857|PMID:11792413 20160122 RGD associated with Breast Neoplasms; 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:16702390 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:18397238|PMID:18666253|PMID:25226513 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:736934 D RGD:4142512|PMID:15928955 20100903 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9008421 Epistaxis susceptibility ISO RGD:736934 D RGD:7794809|PMID:18066575 20140113 RGD DNA:deletion:cds (human) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736934 D RGD:10755318|PMID:18035413 20160125 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736934 D RGD:10450779|PMID:9164324 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:736934 D RGD:10450822|PMID:11488937 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9256 colorectal cancer ISO RGD:736934 D RGD:11353274|PMID:26406947 20190829 RGD DNA:deletion 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9256 colorectal cancer ISO RGD:736934 D RGD:14700995|PMID:16051638 20190903 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9256 colorectal cancer no_association ISO RGD:736934 D RGD:14700954|PMID:22234881 20190829 RGD DNA:CNVs 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9256 colorectal cancer severity ISO RGD:736934 D RGD:14700986|PMID:30106268 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:736934 D RGD:5490997|PMID:16002077 20110923 RGD DNA:deletion: : 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736934 D RGD:2306627|PMID:17979505 20090428 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9538 multiple myeloma ISO RGD:736934 D RGD:11554173 20170307 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736934 D RGD:10450847|PMID:12624497 20160122 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:736934 D RGD:10450846|PMID:15136237 20160122 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9655 oral mucosa leukoplakia ISO RGD:736934 D RGD:14700975|PMID:18507060 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9669 senile cataract ISO RGD:736934 D RGD:14700972|PMID:22446016 20190830 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:7794858|PMID:23111281 20140114 RGD mRNA:decreased expression:islets of Langerhans (rat) 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736934 D RGD:10450829|PMID:10666194 20160121 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736934 D RGD:10755410|PMID:14607752 20160127 RGD 2765 Gstt1 glutathione S-transferase theta 1 gene DOID:9970 obesity IEP D RGD:14701042|PMID:31063713 20190905 RGD mRNA:decreased expression:liver 2766 Guca2a guanylate cyclase activator 2A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735414 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 2766 Guca2a guanylate cyclase activator 2A gene DOID:630 genetic disease ISO RGD:735414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2769 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:731814 D RGD:10401946|PMID:15571982 20151013 RGD 2769 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:630 genetic disease ISO RGD:731814 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2769 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:731814 D RGD:10401946|PMID:15571982 20151013 RGD 2771 Gucy2c guanylate cyclase 2C gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:732111 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 2771 Gucy2c guanylate cyclase 2C gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:736529 D RGD:13592920 20180518 MouseDO 2771 Gucy2c guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:7240710 20190904 OMIM 2771 Gucy2c guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532 2771 Gucy2c guanylate cyclase 2C gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 2771 Gucy2c guanylate cyclase 2C gene DOID:0080216 duodenal atresia ISO RGD:732111 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Duodenal atresia 2771 Gucy2c guanylate cyclase 2C gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 2771 Gucy2c guanylate cyclase 2C gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:732111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 2771 Gucy2c guanylate cyclase 2C gene DOID:13250 diarrhea ISO RGD:732111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22436048 2771 Gucy2c guanylate cyclase 2C gene DOID:630 genetic disease ISO RGD:732111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2771 Gucy2c guanylate cyclase 2C gene DOID:8778 Crohn's disease ISO RGD:732111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:25741868 2771 Gucy2c guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:7240710 20140911 OMIM 2771 Gucy2c guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:4006357 2771 Gucy2c guanylate cyclase 2C gene DOID:9008443 Colorectal Neoplasms ISO RGD:732111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17155897 2771 Gucy2c guanylate cyclase 2C gene DOID:9970 obesity ISS RGD:736529 D RGD:13592920 20180518 MouseDO OMIM:601665 2772 Gusb glucuronidase, beta gene DOID:0060041 autism spectrum disorder ISO RGD:737258 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2772 Gusb glucuronidase, beta gene DOID:10283 prostate cancer ISO RGD:737258 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2772 Gusb glucuronidase, beta gene DOID:1059 intellectual disability ISO RGD:737258 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19224584|PMID:21504867|PMID:23777470|PMID:25741868|PMID:28492532|PMID:7573038|PMID:9490302 2772 Gusb glucuronidase, beta gene DOID:12798 mucopolysaccharidosis disease_progression IEP D RGD:42724461|PMID:2879381 20210309 RGD protein:decreases activity:spleen, kidney, lung (rat) 2772 Gusb glucuronidase, beta gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maroteaux Lamy syndrome PMID:12403825|PMID:12859417|PMID:19224584|PMID:25741868|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28884947|PMID:29698805|PMID:30413728|PMID:30838730|PMID:7573038|PMID:8089138|PMID:8644704|PMID:9490302|PMID:9921904 2772 Gusb glucuronidase, beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:7240710 20130221 OMIM 2772 Gusb glucuronidase, beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome PMID:11226217|PMID:12403825|PMID:12522561|PMID:12859417|PMID:144057|PMID:14711113|PMID:16199547|PMID:1702266|PMID:17576681|PMID:1779626|PMID:1833732|PMID:19224584|PMID:1992472|PMID:2115490|PMID:21504867|PMID:23777470|PMID:24033266|PMID:24260279|PMID:25741868|PMID:26036949|PMID:26415878|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28595941|PMID:28884947|PMID:29620724|PMID:29698805|PMID:30410095|PMID:30413728|PMID:30442200|PMID:30653816|PMID:30838730|PMID:31130284|PMID:31497474|PMID:33686258|PMID:6811712|PMID:7573038|PMID:7633414|PMID:7633417|PMID:7680524|PMID:8089138|PMID:8111412|PMID:8111413|PMID:8644704|PMID:8707294|PMID:9099834|PMID:9224584|PMID:9490302|PMID:9536098|PMID:9921904 2772 Gusb glucuronidase, beta gene DOID:14755 argininosuccinic aciduria ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:19224584|PMID:28492532 2772 Gusb glucuronidase, beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737258 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2772 Gusb glucuronidase, beta gene DOID:576 proteinuria ISO RGD:737258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 2772 Gusb glucuronidase, beta gene DOID:630 genetic disease ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2772 Gusb glucuronidase, beta gene DOID:8283 peritonitis IEP D RGD:42722008|PMID:185091 20210302 RGD protein:altered expression:peritoneal cells (rat) 2772 Gusb glucuronidase, beta gene DOID:863 nervous system disease ISO RGD:737258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7073948|PMID:7107415 2772 Gusb glucuronidase, beta gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:42724460|PMID:827200 20210309 RGD 2772 Gusb glucuronidase, beta gene DOID:9008386 Hydrops Fetalis ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:1702266|PMID:1779626|PMID:19224584|PMID:25741868|PMID:26036949|PMID:28492532|PMID:29620724|PMID:31130284|PMID:31497474|PMID:7573038|PMID:7680524|PMID:8644704|PMID:9099834 2772 Gusb glucuronidase, beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:8837974 D RGD:9068941 20200609 RGD PMID:2837976|REF_RGD_ID:11557999 2773 Gys2 glycogen synthase 2 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:733991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 2773 Gys2 glycogen synthase 2 gene DOID:2747 glycogen storage disease ISO RGD:733991 D RGD:1600764|PMID:9691087 20070326 RGD Glycogen storage disease type 0, OMIM:240600 2773 Gys2 glycogen synthase 2 gene DOID:2747 glycogen storage disease ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:12072888|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:32395408|PMID:32779500|PMID:9691087 2773 Gys2 glycogen synthase 2 gene DOID:5419 schizophrenia ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2773 Gys2 glycogen synthase 2 gene DOID:630 genetic disease ISO RGD:733991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2773 Gys2 glycogen synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733991 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2773 Gys2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:7240710 20130425 OMIM 2773 Gys2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver | ClinVar Annotator: match by term: LIVER GLYCOGEN SYNTHASE DEFICIENCY PMID:106027|PMID:12072888|PMID:141912|PMID:16199547|PMID:16337419|PMID:17576681|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:29167993|PMID:32377253|PMID:32395408|PMID:32779500|PMID:8534634|PMID:9536098|PMID:9691087 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0050743 mature T-cell and NK-cell lymphoma disease_progression ISO RGD:1604187 D RGD:243048423|PMID:34077009 20230329 RGD DNA:SNPs:intron: (rs2839698) (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1604187 D RGD:242905206|PMID:34887365 20230328 RGD RNA:increased expression:blood serum (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0080365 endometrial hyperplasia ISO RGD:1604187 D RGD:2306178|PMID:15228427 20090324 RGD mRNA:altered localization:endometrium 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0080685 aortic dissection ISO RGD:1604187 D RGD:156420156|PMID:33403385 20230219 RGD RNA:increased expression:thoracic aorta (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0080685 aortic dissection treatment ISO RGD:69025 D RGD:156420156|PMID:33403385 20230219 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0080773 delta beta-thalassemia ISO RGD:1604187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0111969 immunodeficiency 39 ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2775 H19 H19 imprinted maternally expressed transcript gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2775 H19 H19 imprinted maternally expressed transcript gene DOID:10591 pre-eclampsia ISO RGD:1604187 D RGD:242905198|PMID:29522949 20230328 RGD RNA:increased expression:placenta (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:10591 pre-eclampsia ameliorates IEP D RGD:213230155|PMID:31203154 20230323 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:11054 urinary bladder cancer ISO RGD:1604187 D RGD:2306168|PMID:18950807 20090324 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:11054 urinary bladder cancer ISO RGD:1604187 D RGD:2306171|PMID:18262338 20090323 RGD DNA:SNP 2775 H19 H19 imprinted maternally expressed transcript gene DOID:11054 urinary bladder cancer ISO RGD:1604187 D RGD:2306180|PMID:11726548 20090324 RGD DNA:hypomethylation 2775 H19 H19 imprinted maternally expressed transcript gene DOID:11054 urinary bladder cancer ISO RGD:69025 D RGD:2306184|PMID:9886562 20090324 RGD mRNA:increased expression:urinary bladder 2775 H19 H19 imprinted maternally expressed transcript gene DOID:11650 bronchopulmonary dysplasia ameliorates ISO RGD:69025 D RGD:242905194|PMID:33285606 20230327 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:117 heart cancer ameliorates ISO RGD:69025 D RGD:242905197|PMID:30843379 20230328 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:12510 retinal ischemia ameliorates ISO RGD:69025 D RGD:242905201|PMID:31127201 20230328 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:12930 dilated cardiomyopathy ameliorates IMP D RGD:156430329|PMID:28430627 20230227 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:13129 severe pre-eclampsia severity ISO RGD:1604187 D RGD:156430323|PMID:24969494 20230224 RGD DNA:promoter:exon 1:hypermethylation 2775 H19 H19 imprinted maternally expressed transcript gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2775 H19 H19 imprinted maternally expressed transcript gene DOID:14681 Silver-Russell syndrome ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:19066168 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1612 breast cancer susceptibility ISO RGD:1604187 D RGD:9068941 20220609 RGD DNA:SNP PMID:18708391|REF_RGD_ID:2306170 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ISO RGD:1604187 D RGD:156430317|PMID:28165553 20230224 RGD RNA:increased expression:blood serum (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ISO RGD:1604187 D RGD:156430336|PMID:33541284 20230228 RGD RNA:increased expression:blood plasm (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ISO RGD:1604187 D RGD:158013772|PMID:31054453 20230317 RGD RNA:increased expression:blood serum (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ameliorates ISO RGD:69025 D RGD:242905195|PMID:35854140 20230328 RGD ApoE knockout mice 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ameliorates ISO RGD:69025 D RGD:242905200|PMID:32945413 20230328 RGD ApoE���/��� mice 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ameliorates ISO RGD:69025 D RGD:242905202|PMID:31757932 20230328 RGD ApoE knockout mice 2775 H19 H19 imprinted maternally expressed transcript gene DOID:1936 atherosclerosis ameliorates ISO RGD:69025 D RGD:243048424|PMID:30529164 20230330 RGD ApoE knockout mice 2775 H19 H19 imprinted maternally expressed transcript gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1604187 D RGD:9068941 20220609 RGD DNA:loss of heterozygosity PMID:10690526|REF_RGD_ID:2306182 2775 H19 H19 imprinted maternally expressed transcript gene DOID:2154 nephroblastoma ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism 2775 H19 H19 imprinted maternally expressed transcript gene DOID:2154 nephroblastoma susceptibility ISO RGD:1604187 D RGD:2306181|PMID:11436121 20090324 RGD associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation 2775 H19 H19 imprinted maternally expressed transcript gene DOID:2671 transitional cell carcinoma IEP D RGD:2306177|PMID:15378645 20090324 RGD mRNA:increased expression:urinary bladder 2775 H19 H19 imprinted maternally expressed transcript gene DOID:2871 endometrial carcinoma severity ISO RGD:1604187 D RGD:9068941 20220609 RGD mRNA:increased expression:endometrium PMID:15228427|REF_RGD_ID:2306178 2775 H19 H19 imprinted maternally expressed transcript gene DOID:2893 cervix carcinoma ISO RGD:1604187 D RGD:9068941 20220609 RGD mRNA:decreased expression:uterine cervix PMID:11997082|REF_RGD_ID:2306179 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3305 teratocarcinoma ISO RGD:69025 D RGD:2306169|PMID:18719115 20090323 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3307 teratoma ISO RGD:1604187 D RGD:2306183|PMID:10521301 20090324 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3393 coronary artery disease susceptibility ISO RGD:1604187 D RGD:242905209|PMID:32454910 20230328 RGD DNA:SNPs,haplotype:intron: (rs2735971,rs2839698,rs3024270) (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3458 breast adenocarcinoma ISO RGD:1604187 D RGD:9068941 20220609 RGD mRNA:increased expression:breast PMID:9811352|REF_RGD_ID:2306185 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3525 middle cerebral artery infarction IEP D RGD:155900760|PMID:28203482 20230217 RGD RNA:increased expression:brain (rat) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3525 middle cerebral artery infarction ISO RGD:69025 D RGD:156451661|PMID:32335212 20230310 RGD RNA:increased expression:brain (mouse) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3525 middle cerebral artery infarction ameliorates IMP D RGD:242905188|PMID:31170091 20230327 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3525 middle cerebral artery infarction ameliorates IMP D RGD:242905190|PMID:35322553 20230327 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:69025 D RGD:242905192|PMID:28630232 20230327 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3526 cerebral infarction ISO RGD:69025 D RGD:155900761|PMID:30778327 20230213 RGD associated with atherosclerosis 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3526 cerebral infarction ameliorates ISO RGD:69025 D RGD:155882574|PMID:36453417 20230130 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3526 cerebral infarction disease_progression ISO RGD:1604187 D RGD:155882574|PMID:36453417 20230130 RGD RNA:increased expression:blood plasma, plasma exosome (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3526 cerebral infarction susceptibility ISO RGD:1604187 D RGD:155900760|PMID:28203482 20230217 RGD DNA:SNPs,haplotypes: (rs217727,rs4929984) (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3526 cerebral infarction susceptibility ISO RGD:1604187 D RGD:156430336|PMID:33541284 20230227 RGD DNA:SNP::(rs217727) (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:363 uterine cancer disease_progression ISO RGD:1604187 D RGD:9068941 20220609 RGD mRNA:increased expression:myometrium PMID:15618002|REF_RGD_ID:2306176 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:32739445 2775 H19 H19 imprinted maternally expressed transcript gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1604187 D RGD:126925764|PMID:30280776 20210519 RGD mRNA:increased expression:lung (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:5160 arteriosclerosis obliterans ISO RGD:1604187 D RGD:155888487|PMID:31173326 20230208 RGD RNA:increased expression:blood serum (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:5160 arteriosclerosis obliterans ISO RGD:69025 D RGD:155888487|PMID:31173326 20230208 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:5176 renal Wilms' tumor ISO RGD:1604187 D RGD:9068941 20220825 RGD associated with loss of imprinting;DNA:hypermethylation:promoter, kidney (human) PMID:11431321|REF_RGD_ID:151356740 2775 H19 H19 imprinted maternally expressed transcript gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:15314640|PMID:17033624|PMID:18836444 2775 H19 H19 imprinted maternally expressed transcript gene DOID:5844 myocardial infarction ameliorates IMP D RGD:242905187|PMID:33389498 20230327 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:6000 congestive heart failure ISO RGD:1604187 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2775 H19 H19 imprinted maternally expressed transcript gene DOID:6000 congestive heart failure severity ISO RGD:1604187 D RGD:243048444|PMID:27317124 20230331 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:684 hepatocellular carcinoma IEP D RGD:2306187|PMID:17393425 20090324 RGD mRNA:increased expression:liver 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1604187 D RGD:2306175|PMID:16434968 20090324 RGD DNA:hypomethylation:promoter 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9000722 Animal Hepatitis ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9001310 Tobacco Use Disorder ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:32739445 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9001586 Experimental Liver Neoplasms IDA D RGD:1342455|PMID:15352122 20090324 RGD DNA:hypomethylation:promoter 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO RGD:69025 D RGD:155882573|PMID:30547791 20230130 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9001820 Pulmonary Arterial Hypertension treatment IEP D RGD:156430315|PMID:30240970 20230223 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1604187 D RGD:2306182|PMID:10690526 20090324 RGD DNA:loss of heterozygosity 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9003139 Cardiac Fibrosis IEP D RGD:156430318|PMID:27318893 20230224 RGD mRNA:increased expression:cardiac muscle tissue (rat) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1604187 D RGD:2306179|PMID:11997082 20090324 RGD mRNA:decreased expression:uterine cervix 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9003936 Cardiomegaly ISO RGD:1604187 D RGD:155260312|PMID:35139769 20220929 RGD RNA:decrased expression:blood serum (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9003936 Cardiomegaly ISO RGD:69025 D RGD:155882575|PMID:27084844 20230208 RGD RNA:increased expression:heart (mouse) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9003936 Cardiomegaly ISO RGD:69025 D RGD:243048444|PMID:27317124 20230331 RGD RNA:increased expression:heart left ventricle (mouse) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9003996 Birth Weight ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9004268 Uterine Neoplasms disease_progression ISO RGD:1604187 D RGD:2306176|PMID:15618002 20090324 RGD mRNA:increased expression:myometrium 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1642758|PMID:15170812 20090324 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9006182 Carotid Artery Injuries ameliorates IEP D RGD:156430326|PMID:34487706 20230227 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9006945 Diabetic Cardiomyopathies ameliorates IMP D RGD:156430325|PMID:27796346 20230227 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9006945 Diabetic Cardiomyopathies ameliorates IMP D RGD:156451660|PMID:27903964 20230324 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:69025 D RGD:156430337|PMID:36044268 20230228 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9007434 small artery occlusion ISO RGD:1604187 D RGD:156430336|PMID:33541284 20230228 RGD RNA:increased expression:blood plasm (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:32739445 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9007702 Carcinogenesis ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:32739445 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:1604187 D RGD:2306178|PMID:15228427 20090324 RGD mRNA:increased expression:endometrium 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:69025 D RGD:158013771|PMID:31284127 20230317 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9008212 Diabetic Foot ISO RGD:1604187 D RGD:156451663|PMID:33174326 20230310 RGD RNA:increased expression:foot (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9008212 Diabetic Foot ameliorates ISO RGD:69025 D RGD:156451663|PMID:33174326 20230310 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9008576 Wilms Tumor 2 ISO RGD:1604187 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Wilms tumor 2 PMID:18836444 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9008939 Breast Neoplasms ISO RGD:1604187 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9008939 Breast Neoplasms ISO RGD:1604187 D RGD:2306185|PMID:9811352 20090324 RGD mRNA:increased expression:breast 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1604187 D RGD:2306170|PMID:18708391 20090323 RGD DNA:SNP 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9352 type 2 diabetes mellitus sexual_dimorphism ISO RGD:1604187 D RGD:243048436|PMID:33116722 20230331 RGD RNA:decrased expression:blood serum (human) 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9408 acute myocardial infarction ameliorates IMP D RGD:213230161|PMID:31755219 20230323 RGD 2775 H19 H19 imprinted maternally expressed transcript gene DOID:9538 multiple myeloma severity ISO RGD:1604187 D RGD:156430335|PMID:29470951 20230227 RGD RNA:decrased expression:blood serum (human) 2776 H1f4 H1.4 linker histone, cluster member gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1345558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2776 H1f4 H1.4 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1345558 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:31447100|PMID:33270410 2776 H1f4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:7240710 20190315 OMIM 2776 H1f4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rahman syndrome PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:29383847|PMID:29704315|PMID:31447100|PMID:33270410 2776 H1f4 H1.4 linker histone, cluster member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345558 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33270410 2776 H1f4 H1.4 linker histone, cluster member gene DOID:9008582 Developmental Disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 2776 H1f4 H1.4 linker histone, cluster member gene DOID:9538 multiple myeloma ISO RGD:1345558 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 2777 H1f0 H1.0 linker histone gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 2777 H1f0 H1.0 linker histone gene DOID:0080600 COVID-19 ISO RGD:736127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2777 H1f0 H1.0 linker histone gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2777 H1f0 H1.0 linker histone gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2777 H1f0 H1.0 linker histone gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2777 H1f0 H1.0 linker histone gene DOID:9119 acute myeloid leukemia ISO RGD:736127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2778 H1f6 H1.6 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:737047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:1826 epilepsy ISO RGD:736814 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736814 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:630 genetic disease ISO RGD:736814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:9000559 Glyoxalase II Deficiency ISO RGD:736814 D RGD:7240710 20210317 OMIM 2779 Hagh hydroxyacyl glutathione hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736814 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2781 Has2 hyaluronan synthase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732743 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 2781 Has2 hyaluronan synthase 2 gene DOID:2987 familial Mediterranean fever ISO RGD:12177236 D RGD:9068941 20230406 OMIA Periodic Fever Syndrome PMID:1606750|PMID:20080661|PMID:20178474|PMID:21437276|PMID:21718367|PMID:24130694|PMID:25040095|PMID:27107962|PMID:28472921|PMID:36978210 2781 Has2 hyaluronan synthase 2 gene DOID:3525 middle cerebral artery infarction IEP D RGD:9588631|PMID:11283406 20141103 RGD mRNA:increased expression:brain 2781 Has2 hyaluronan synthase 2 gene DOID:630 genetic disease ISO RGD:732743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2781 Has2 hyaluronan synthase 2 gene DOID:6432 pulmonary hypertension IEP D RGD:9588633|PMID:19915162 20141103 RGD mRNA:increased expression:lung 2781 Has2 hyaluronan synthase 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:9588630|PMID:18441392 20141103 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla 2781 Has2 hyaluronan synthase 2 gene DOID:9003936 Cardiomegaly IEP D RGD:2289364|PMID:18196276 20141103 RGD mRNA:increased expression:heart 2781 Has2 hyaluronan synthase 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9588636|PMID:22529164 20141103 RGD 2781 Has2 hyaluronan synthase 2 gene DOID:9409 diabetes insipidus IEP D RGD:9588637|PMID:19496322 20141103 RGD 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:10652 Alzheimer's disease IEP D RGD:10450508|PMID:21428213 20160114 RGD 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:1099 alpha thalassemia IAGP D RGD:11353869|PMID:14555303 20160725 RGD 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:10449442|PMID:4044827 20160104 RGD 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:10755567|PMID:3680504 20160202 RGD DNA:missense mutation:cds: c.2T>C(human) 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:10755570|PMID:4006915 20160202 RGD DNA:deletion:cds:c.del-2_-3del(human) 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:1099 alpha thalassemia ISO RGD:737064 D RGD:10755575|PMID:24829075 20160202 RGD DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human) 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:1099 alpha thalassemia severity ISO RGD:737064 D RGD:10755568|PMID:9604545 20160202 RGD associated with Anemia, Sickle Cell; 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:737064 D RGD:10449443|PMID:18786935 20160104 RGD 2782 Hba-a1 hemoglobin alpha, adult chain 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2783 Hbb hemoglobin subunit beta gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:7240710 20150729 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE PMID:10203101|PMID:10335989|PMID:10367791|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12324499|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22737496|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26877226|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304 2783 Hbb hemoglobin subunit beta gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29240028|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3014870|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33335418|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4129558|PMID:4232783|PMID:4351905|PMID:4361439|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:8161774|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:11425418|PMID:11523095|PMID:11545326|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702 2783 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23729725|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31240559|PMID:31268351|PMID:3130858 2783 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:31395865|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32885601|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:3382401|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35336809|PMID:3557993|PMID:3557998|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4841979|PMID:49057|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:0080772 beta-thalassemia intermedia ISO RGD:736606 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia PMID:10606872|PMID:10870887|PMID:11300352|PMID:11532628|PMID:11809258|PMID:11857738|PMID:11857746|PMID:12139763|PMID:12144056|PMID:12324499|PMID:12368169|PMID:12709369|PMID:12779270|PMID:1301199|PMID:1428943|PMID:14555318|PMID:1463768|PMID:15658193|PMID:1586746|PMID:1634236|PMID:16732578|PMID:17007829|PMID:17145605|PMID:17365006|PMID:17486493|PMID:17576681|PMID:17606453|PMID:1777603|PMID:17994378|PMID:18076350|PMID:1814858|PMID:18294253|PMID:18339318|PMID:18603555|PMID:18759082|PMID:19103851|PMID:1917531|PMID:19254853|PMID:19437135|PMID:19460936|PMID:1954392|PMID:20301599|PMID:20437613|PMID:20704537|PMID:21119755|PMID:21228398|PMID:21845419|PMID:2200760|PMID:22089620|PMID:22392582|PMID:22734587|PMID:22975760|PMID:23094636|PMID:2310691|PMID:23525874|PMID:23590658|PMID:2375912|PMID:23915319|PMID:2399911|PMID:24450243|PMID:2446680|PMID:2458145|PMID:24719849|PMID:24828949|PMID:25087612|PMID:25155404|PMID:25370867|PMID:25480500|PMID:25617386|PMID:25677748|PMID:25741868|PMID:25825561|PMID:25910213|PMID:26029792|PMID:26041423|PMID:2634667|PMID:2634674|PMID:26467025|PMID:26594346|PMID:26901597|PMID:27263053|PMID:27635400|PMID:27756326|PMID:27828729|PMID:28125089|PMID:28276871|PMID:2837728|PMID:28385923|PMID:28492532|PMID:28503568|PMID:28670940|PMID:2917193|PMID:2920213|PMID:29893155|PMID:3002527|PMID:30309760|PMID:31240559|PMID:31395865|PMID:31589614|PMID:31718331|PMID:32069775|PMID:32885601|PMID:33851260|PMID:3446652|PMID:3457470|PMID:6188062|PMID:6280057|PMID:7507641|PMID:7530406|PMID:7599641|PMID:7632967|PMID:7655036|PMID:7794779|PMID:8037185|PMID:8111050|PMID:8199027|PMID:8435318|PMID:8438884|PMID:8477263|PMID:8874232|PMID:8980256|PMID:9028819|PMID:9101288|PMID:9140720|PMID:9450794|PMID:9536098|PMID:9792288 2783 Hbb hemoglobin subunit beta gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:7240710 20150729 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:1177278|PMID:11830454|PMID:11857746|PMID:1186896|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12149194|PMID:12324499|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20110664|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22737496|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23431002|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27032675|PMID:27117572|PMID:2713503 2783 Hbb hemoglobin subunit beta gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:2798417|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29240028|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33335418|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:3557993|PMID:3557998|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4078867|PMID:4232783|PMID:4351905|PMID:4683875|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8091935|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:5420592|PMID:8704193 2783 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:1600889|PMID:2599881 20070329 RGD DNA:deletion:CDS:p.F41del, p.F42del (human) 2783 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:7240710 20150729 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:10975446|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:14198723|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:186485|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599881|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862 2783 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:2752127|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3021607|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3457470|PMID:3462712|PMID:34749363|PMID:3557993|PMID:3557998|PMID:3557999|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3768534|PMID:3781865|PMID:3799593|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3937827|PMID:3957690|PMID:4078867|PMID:4232783|PMID:4281476|PMID:4351905|PMID:4407364|PMID:4514958|PMID:4525423|PMID:4683875|PMID:4808645|PMID:49057|PMID:4942314|PMID:4991321|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5698750|PMID:5785231|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5915974|PMID:6019668|PMID:6029950|PMID:6050213|PMID:6067323|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:711920|PMID:7137165|PMID:7151176|PMID:7177196|PMID:721609|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7384810|PMID:7395858|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7860732|PMID:7864023|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8824225|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:7240710 20190315 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:10203101|PMID:10335979|PMID:10335989|PMID:1052179|PMID:1052180|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10722117|PMID:10815781|PMID:10846826|PMID:11001883|PMID:1112610|PMID:1117598|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:1164510|PMID:1164511|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939509|PMID:11939510|PMID:11946541|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:124|PMID:1246355|PMID:1249207|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14081243|PMID:14084634|PMID:14117783|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:16987804|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17795074|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18793248|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20942|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:234980|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:239863|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26635043|PMID:26661037|PMID:26897028|PMID:26956563|PMID:2703368|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683 2783 Hbb hemoglobin subunit beta gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27651169|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28685465|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29054|PMID:29319890|PMID:29484903|PMID:29695942|PMID:29790589|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:30423154|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31132167|PMID:31134759|PMID:3114176|PMID:31268351|PMID:31304856|PMID:31388287|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:3207692|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3348204|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623972|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3793825|PMID:3821796|PMID:3839762|PMID:3840039|PMID:3859465|PMID:3930571|PMID:3935609|PMID:3957690|PMID:3957694|PMID:4232783|PMID:4338724|PMID:4342316|PMID:4351905|PMID:4413656|PMID:4514629|PMID:4639015|PMID:4683875|PMID:4719677|PMID:4742453|PMID:478981|PMID:4808644|PMID:49057|PMID:5011106|PMID:5026295|PMID:5073564|PMID:5080413|PMID:5128393|PMID:5280664|PMID:5282843|PMID:5347519|PMID:5481775|PMID:5492847|PMID:5609824|PMID:5619995|PMID:563749|PMID:5651043|PMID:5658717|PMID:5687529|PMID:5773089|PMID:5775133|PMID:5796352|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6061751|PMID:6061752|PMID:6067323|PMID:6162860|PMID:6166590|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:639985|PMID:6434492|PMID:6457059|PMID:6500987|PMID:6546989|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6589624|PMID:6629830|PMID:6695908|PMID:6714226|PMID:6745619|PMID:678476|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6874372|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7097767|PMID:7137165|PMID:7151176|PMID:7158624|PMID:7161106|PMID:7177196|PMID:7204092|PMID:7204093|PMID:7229029|PMID:7295777|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7417488|PMID:747183|PMID:750556|PMID:7522523|PMID:7558878|PMID:7615400|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:8144354|PMID:8168595|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:826083|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8701949|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8954892|PMID:9028827|PMID:903694|PMID:9048934|PMID:909565|PMID:9101280|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:949044|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:10241 thalassemia ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE) | ClinVar Annotator: match by term: Hemoglobin Lepore trait PMID:1347969|PMID:13703277|PMID:13843994|PMID:13892631|PMID:14092068|PMID:14117783|PMID:14133899|PMID:14194270|PMID:14282052|PMID:14449876|PMID:14478740|PMID:16114186|PMID:16178917|PMID:1693293|PMID:17709689|PMID:19429541|PMID:19750260|PMID:20206586|PMID:24200101|PMID:2442092|PMID:25130136|PMID:25741868|PMID:26467025|PMID:26901597|PMID:27207683|PMID:27535164|PMID:28791912|PMID:31553106|PMID:3957922|PMID:4625560|PMID:511585|PMID:5125343|PMID:5356627|PMID:5481775|PMID:5660684|PMID:5872025|PMID:5964983|PMID:6026391|PMID:6859036|PMID:700140|PMID:701081|PMID:857849|PMID:8745435 2783 Hbb hemoglobin subunit beta gene DOID:10780 primary polycythemia ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO PMID:11074558|PMID:15658189|PMID:17952198|PMID:19257|PMID:22563907|PMID:2272838|PMID:26467025 2783 Hbb hemoglobin subunit beta gene DOID:10783 methemoglobinemia ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15929117 2783 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:81926|PMID:29255069|PMID:32142671 2783 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:1600892|PMID:6304979 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:7240710 20150729 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11196276|PMID:11300348|PMID:11425418|PMID:1148394|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11734002|PMID:11741197|PMID:1177278|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12383672|PMID:12403491|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:14197371|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14370233|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15333505|PMID:15395398|PMID:15470211|PMID:15470216|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15697092|PMID:15727901|PMID:15761692|PMID:15768552|PMID:1581247|PMID:1586746|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17655700|PMID:17655708|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18081706|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18495504|PMID:1850955|PMID:18568278|PMID:18603555|PMID:1873227|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19631632|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19758965|PMID:19783722|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20090224|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22145566|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22690826|PMID:22737496|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:22995479|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:23543793|PMID:23590658|PMID:23591685 2783 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:23637309|PMID:23651435|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24957539|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25332633|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27521855|PMID:27521862|PMID:2753736|PMID:27670359|PMID:27690257|PMID:27718361|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28698850|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:29240028|PMID:2930724|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3014870|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31164695|PMID:31240559|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32411010|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33279152|PMID:33287582|PMID:33335418|PMID:33489049|PMID:3354556|PMID:33851260|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3462712|PMID:34749363|PMID:35287566|PMID:3557993|PMID:3557994|PMID:3557998|PMID:36073655|PMID:3623977|PMID:3683554|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4018033|PMID:4078867|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4683875|PMID:4715135|PMID:4725603|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5722880|PMID:5863839|PMID:5915974|PMID:6016610|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281 2783 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:6745619|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7073867|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7668221|PMID:7691242|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7908281|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8144357|PMID:8161774|PMID:81926|PMID:8195010|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8494004|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:974261|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:11353869|PMID:14555303 20160725 RGD 2783 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 2783 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20642331|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23637309|PMID:23647352|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271 2783 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940 2783 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4625560|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5915974|PMID:5964983|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8280608|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:1617626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17018382 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:88735|PMID:3021607|PMID:6270663|PMID:6280057|PMID:16755567|PMID:23975182 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:1600575|PMID:3033668 20070316 RGD DNA:nonsense mutation, haplotypes: :p.Q39X (human) 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:1600893|PMID:6457059 20070329 RGD DNA:nonsense mutation:CDS:168C>T, p.Q39X (human) 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:1600895|PMID:6280057 20070329 RGD DNA:mutations, haplotypes: :multiple 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:7240710 20150729 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:10081986|PMID:10203101|PMID:10233364|PMID:10335988|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:1052174|PMID:10569722|PMID:10569730|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10706767|PMID:10756381|PMID:10776695|PMID:10815781|PMID:10840054|PMID:10861818|PMID:10870880|PMID:10870887|PMID:10975446|PMID:10997336|PMID:11001883|PMID:11074564|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11186262|PMID:11186264|PMID:11279660|PMID:11300343|PMID:11300348|PMID:11300351|PMID:11300352|PMID:11300355|PMID:11425418|PMID:11480785|PMID:1148394|PMID:11523095|PMID:11532628|PMID:11545326|PMID:11559932|PMID:11570721|PMID:1163074|PMID:1164567|PMID:11713529|PMID:11722417|PMID:11734002|PMID:1173714|PMID:11741197|PMID:11757720|PMID:1177278|PMID:11791873|PMID:11791874|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:11939511|PMID:11939518|PMID:11939519|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12139763|PMID:12144055|PMID:12144056|PMID:12144057|PMID:12144059|PMID:12144064|PMID:12144066|PMID:12149194|PMID:12172041|PMID:12189174|PMID:12210807|PMID:12324499|PMID:12353305|PMID:12368169|PMID:12383672|PMID:12403488|PMID:12403491|PMID:12403498|PMID:12430907|PMID:1244906|PMID:12488606|PMID:12508270|PMID:12702481|PMID:12709369|PMID:1272328|PMID:12752111|PMID:12764548|PMID:12779270|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12885342|PMID:12908806|PMID:12955718|PMID:1301199|PMID:1301203|PMID:1301930|PMID:1301952|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716727|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:1398296|PMID:14081243|PMID:14084634|PMID:14160125|PMID:14197371|PMID:14198723|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428943|PMID:1428944|PMID:1428946|PMID:1428947|PMID:14311973|PMID:14343445|PMID:14370233|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15008262|PMID:15008267|PMID:15009072|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1511973|PMID:15153712|PMID:1515453|PMID:1515649|PMID:1517107|PMID:1517108|PMID:1517109|PMID:1517110|PMID:1517111|PMID:15181845|PMID:1520612|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15333505|PMID:1536956|PMID:15395398|PMID:1545796|PMID:15470211|PMID:15470216|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15641237|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15658193|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15933066|PMID:15973412|PMID:15977037|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16114184|PMID:16114187|PMID:16114188|PMID:16126871|PMID:16175509|PMID:16178917|PMID:16199547|PMID:16225661|PMID:16266911|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634360|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16466947|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1686262|PMID:1698102|PMID:16987798|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:1716997|PMID:1717406|PMID:1719807|PMID:17278112|PMID:1728311|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365003|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486497|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17598223|PMID:17606453|PMID:17654075|PMID:17655700|PMID:1769663|PMID:1772786|PMID:17768122|PMID:17774955|PMID:1777603|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:1814858|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18473247|PMID:18473248|PMID:18486569|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18591626|PMID:18603555|PMID:18619001|PMID:18654889|PMID:18694524|PMID:1873227|PMID:18759082|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18932067|PMID:18932071|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:19125249|PMID:1917531|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19290524|PMID:19372376|PMID:19429541|PMID:19437135|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:19500561|PMID:1951306|PMID:1954392|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:1974422|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:1995096|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20113289|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20230396|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:2043469|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642337|PMID:2064964|PMID:2070092|PMID:20704537|PMID:2071159|PMID:20737602|PMID:20788973|PMID:2079434|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20942|PMID:20954261|PMID:20975770|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:2120891|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21801233|PMID:21845419|PMID:21879898|PMID:21892914|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22356097|PMID:22392582|PMID:2239966|PMID:22409273|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22675570|PMID:22690826|PMID:2272839|PMID:2272840|PMID:22734501|PMID:22734587|PMID:22737496|PMID:22738610|PMID:22738642|PMID:2283297|PMID:2283299|PMID:2283300|PMID:2283303|PMID:22851993|PMID:22875618|PMID:22896714|PMID:22898041|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23362932|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23525874|PMID:23586372|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23606168|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23665927|PMID:23729725|PMID:237566|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23889802|PMID:23915319|PMID:2393018|PMID:2393712|PMID:239952|PMID:2399911|PMID:24033266|PMID:24052702|PMID:24052746|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2440502|PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:2467892|PMID:24682197|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24957539|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:2525253|PMID:25268796|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:2542242|PMID:25469539|PMID:25471338|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25526804|PMID:25541274|PMID:25572182|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25682598|PMID:25741868|PMID:25754248|PMID:25762031|PMID:2577233|PMID:2579336|PMID:25806420|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25905082|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26097845|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26202972|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26402558|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554738|PMID:26554862|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27264598|PMID:2730955|PMID:27339814|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27521862|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27848919|PMID:27884173|PMID:27979672|PMID:27981798|PMID:2804366|PMID:28125089|PMID:2816924|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:28670947|PMID:28671035|PMID:2867271|PMID:28680605|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28800727|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:2917118|PMID:29171316|PMID:2917193|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:2930724|PMID:29313434|PMID:29319890|PMID:29365076|PMID:29379553|PMID:29403210|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30422720|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30501529|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30809867|PMID:30843739|PMID:3108201|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31130284|PMID:31134759|PMID:31139532|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31304856|PMID:3130858|PMID:31394941|PMID:31395865|PMID:31397596|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31934147 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:32001505|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32142096|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32672086|PMID:3267215|PMID:32674615|PMID:32722952|PMID:32860008|PMID:32885601|PMID:32986258|PMID:33091040|PMID:33092544|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33439495|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:3384706|PMID:3384712|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:3408672|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34258108|PMID:34293487|PMID:34334128|PMID:34426522|PMID:3446652|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35336809|PMID:3557993|PMID:3557998|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3689700|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3768534|PMID:3780671|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3838975|PMID:3839771|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3923770|PMID:3937827|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4407364|PMID:4413625|PMID:4512457|PMID:4514958|PMID:4525423|PMID:457425|PMID:457426|PMID:4683875|PMID:4808644|PMID:4841979|PMID:49057|PMID:4942314|PMID:4981790|PMID:4991321|PMID:4994348|PMID:5022448|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5097135|PMID:5129589|PMID:5283757|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5634912|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5713642|PMID:5722880|PMID:5773089|PMID:5785231|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5886928|PMID:5915974|PMID:5925329|PMID:5961314|PMID:5972415|PMID:598514|PMID:5996551|PMID:6016610|PMID:6019668|PMID:6021187|PMID:6029950|PMID:6033745|PMID:6034218|PMID:6050213|PMID:6054484|PMID:6067323|PMID:6086605|PMID:6089938|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6251466|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6322284|PMID:640855|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:711920|PMID:7137165|PMID:7141876|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204093|PMID:7204096|PMID:7204097|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:750554|PMID:7507641|PMID:7522523|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7669681|PMID:7683931|PMID:7691242|PMID:7713749|PMID:7755625|PMID:7759073|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7852088|PMID:7852091|PMID:7860732|PMID:7864023|PMID:7899267|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7928376|PMID:7929232|PMID:7993409|PMID:8019567|PMID:8037185|PMID:8037197|PMID:8042613|PMID:808079|PMID:8081396|PMID:8091935|PMID:8094943|PMID:8095930|PMID:8111050|PMID:8112743|PMID:8144351|PMID:8144354|PMID:8144356|PMID:8144357|PMID:8144358|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226099|PMID:8251381|PMID:8257991|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330972|PMID:8330981|PMID:8338769|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:8462981|PMID:8477263|PMID:8485062|PMID:8494004|PMID:8518184|PMID:8537236|PMID:8562944|PMID:8602996|PMID:8619407|PMID:8629112|PMID:8638609|PMID:8682512|PMID:8703815|PMID:8718699|PMID:8718703|PMID:8811316|PMID:8839873|PMID:8856098|PMID:88735|PMID:8874232|PMID:8889595|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8952150|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028819|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101282|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9353871|PMID:9371531|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9494052|PMID:9494053|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9625056|PMID:9629504|PMID:9653159|PMID:9730368|PMID:974261|PMID:9785927|PMID:9792288|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9846016|PMID:9859938|PMID:9875660|PMID:992050|PMID:993333|PMID:9949622|PMID:998617 2783 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia treatment ISO RGD:736606 D RGD:11353868|PMID:16631345 20160725 RGD 2783 Hbb hemoglobin subunit beta gene DOID:12365 malaria ISO RGD:736606 D RGD:7240710 20230505 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:12365 malaria ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298 2783 Hbb hemoglobin subunit beta gene DOID:12365 malaria ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:12365 malaria resistance ISO RGD:736606 D RGD:1600894|PMID:11001883 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:14067 Plasmodium falciparum malaria ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20305663 2783 Hbb hemoglobin subunit beta gene DOID:14330 Parkinson's disease ISO RGD:736606 D RGD:10449046|PMID:24333691 20151215 RGD protein:decreased expression:brain, mitochondrion 2783 Hbb hemoglobin subunit beta gene DOID:1496 echinococcosis ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 2783 Hbb hemoglobin subunit beta gene DOID:1584 acute chest syndrome ISO RGD:736606 D RGD:10449047|PMID:23952145 20151215 RGD DNA:SNPs, haplotypes 2783 Hbb hemoglobin subunit beta gene DOID:2355 anemia IEP D RGD:10449049|PMID:21296123 20151215 RGD 2783 Hbb hemoglobin subunit beta gene DOID:2355 anemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia PMID:10602954|PMID:11425418|PMID:11545326|PMID:11741197|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12149194|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:14084634|PMID:14133899|PMID:14734204|PMID:15114532|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:16001361|PMID:16114182|PMID:16750922|PMID:1693293|PMID:17278112|PMID:17287491|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18568278|PMID:19061217|PMID:19440680|PMID:19465909|PMID:1960615|PMID:19758965|PMID:19841268|PMID:1986365|PMID:19958185|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20492708|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21131035|PMID:21302591|PMID:21329186|PMID:21529713|PMID:21732929|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:22260787|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23729725|PMID:24033266|PMID:24123366|PMID:24368026|PMID:2442092|PMID:24493127|PMID:24581976|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25370867|PMID:25741868|PMID:2579336|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26554862|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28492532|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:30002798|PMID:30033078|PMID:3031297|PMID:30315176|PMID:3048433|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:3354556|PMID:34334128|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3821796|PMID:4232783|PMID:4351905|PMID:4625560|PMID:49057|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5964983|PMID:6166632|PMID:6198908|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6583683|PMID:6584911|PMID:6859036|PMID:700140|PMID:7177196|PMID:7384810|PMID:7395858|PMID:7993409|PMID:81926|PMID:8199597|PMID:8462981|PMID:8839873|PMID:893136|PMID:909565|PMID:9653159|PMID:9859938 2783 Hbb hemoglobin subunit beta gene DOID:2859 hemoglobin C disease ISO RGD:736606 D RGD:1600890|PMID:2239966 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:2859 hemoglobin C disease ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN C PMID:11001883|PMID:11713529|PMID:12818227|PMID:13108995|PMID:13115700|PMID:13618691|PMID:13685866|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15973412|PMID:16175509|PMID:1680789|PMID:17774955|PMID:18048408|PMID:19061217|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20305663|PMID:22075726|PMID:2239966|PMID:23297836|PMID:23591685|PMID:2412200|PMID:25488433|PMID:25741868|PMID:26372199|PMID:26661037|PMID:27117572|PMID:28251416|PMID:28492532|PMID:2888754|PMID:30604644|PMID:33091040|PMID:33116287|PMID:7137165|PMID:7229029|PMID:8201467|PMID:9556665 2783 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5773089 2783 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy PMID:1002699|PMID:10081984|PMID:10490144|PMID:10770934|PMID:10804732|PMID:10815781|PMID:10840054|PMID:10975438|PMID:11074564|PMID:11167851|PMID:1117598|PMID:1138885|PMID:11532628|PMID:1158862|PMID:1164510|PMID:11722417|PMID:11791873|PMID:11857746|PMID:1225575|PMID:12368169|PMID:12403498|PMID:1244915|PMID:12621249|PMID:12709369|PMID:12752111|PMID:12779277|PMID:12955718|PMID:1384315|PMID:13911808|PMID:14197371|PMID:14198723|PMID:14597|PMID:1463768|PMID:14686490|PMID:14734204|PMID:15008262|PMID:15108284|PMID:1520612|PMID:15315794|PMID:1536956|PMID:15653458|PMID:15658193|PMID:15727901|PMID:15761692|PMID:15768557|PMID:16282896|PMID:1634360|PMID:16466947|PMID:16732578|PMID:1686262|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1717406|PMID:17606453|PMID:1769663|PMID:1787097|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18096416|PMID:18173741|PMID:18294253|PMID:18339318|PMID:18498386|PMID:1850955|PMID:1856830|PMID:18654884|PMID:18654889|PMID:1873227|PMID:18793248|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19205970|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19486366|PMID:1951318|PMID:1954392|PMID:1974422|PMID:1986379|PMID:2014803|PMID:2018842|PMID:20301599|PMID:20309827|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20437613|PMID:20524821|PMID:2064964|PMID:20704537|PMID:20838957|PMID:20942|PMID:2105568|PMID:21119755|PMID:21232998|PMID:21389146|PMID:21423179|PMID:21523319|PMID:21599435|PMID:21797703|PMID:2197725|PMID:22074124|PMID:22145566|PMID:22180324|PMID:22239493|PMID:22392582|PMID:22675570|PMID:2283301|PMID:2291577|PMID:22975760|PMID:2298920|PMID:22995479|PMID:23321370|PMID:23383304|PMID:23491071|PMID:23510507|PMID:23525874|PMID:23590330|PMID:23637309|PMID:2375910|PMID:2384310|PMID:23859443|PMID:239863|PMID:239943|PMID:2399911|PMID:24099628|PMID:24265529|PMID:2458145|PMID:2467892|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25332589|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25677748|PMID:25707679|PMID:25741868|PMID:25905082|PMID:25976460|PMID:2599881|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26372288|PMID:26418075|PMID:26467025|PMID:26522187|PMID:26544676|PMID:26594346|PMID:26635043|PMID:26790389|PMID:26948378|PMID:26956563|PMID:27032675|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27207683|PMID:27263053|PMID:27264516|PMID:2752127|PMID:2757008|PMID:27651169|PMID:27670359|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27828729|PMID:28125089|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28603845|PMID:28670940|PMID:28671035|PMID:2901867|PMID:29295702|PMID:29790589|PMID:30046479|PMID:3006832|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30423154|PMID:30489691|PMID:31134759|PMID:3114175|PMID:31190580|PMID:31240559|PMID:31304856|PMID:31395865|PMID:31553106|PMID:31589614|PMID:31714438|PMID:32190157|PMID:32411010|PMID:32412692|PMID:32925409|PMID:32986258|PMID:33287582|PMID:33489049|PMID:33602051|PMID:33829933|PMID:3391614|PMID:33971252|PMID:3403716|PMID:3462712|PMID:35336809|PMID:3557994|PMID:3557996|PMID:3583764|PMID:3588028|PMID:3756101|PMID:3768534|PMID:3942130|PMID:3955238|PMID:3957694|PMID:4101432|PMID:4514958|PMID:457426|PMID:4685078|PMID:4808644|PMID:4942314|PMID:4999133|PMID:5031790|PMID:5056652|PMID:5059650|PMID:5079107|PMID:5577462|PMID:5684629|PMID:5750181|PMID:5782115|PMID:5791730|PMID:5856115|PMID:5881530|PMID:5919752|PMID:598514|PMID:6029950|PMID:6038175|PMID:604313|PMID:6050213|PMID:6054966|PMID:6067323|PMID:6086605|PMID:6249934|PMID:6469698|PMID:6526653|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6668191|PMID:6714226|PMID:6733281|PMID:6874374|PMID:6879181|PMID:6998928|PMID:7104238|PMID:7158624|PMID:7173395|PMID:7204093|PMID:7353889|PMID:7390864|PMID:7407240|PMID:747178|PMID:7510147|PMID:7530406|PMID:7558878|PMID:7558879|PMID:7615400|PMID:7693620|PMID:7786794|PMID:7852087|PMID:7852088|PMID:7860732|PMID:7864023|PMID:7928379|PMID:8112743|PMID:8114|PMID:8144354|PMID:8225319|PMID:8226093|PMID:8226094|PMID:8330980 2783 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy PMID:8435318|PMID:8619407|PMID:8638609|PMID:8701949|PMID:8718703|PMID:8824225|PMID:88735|PMID:891976|PMID:9028819|PMID:9101280|PMID:9101288|PMID:9140720|PMID:9163586|PMID:9223924|PMID:9340427|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9494047|PMID:9495372|PMID:9625056|PMID:9846016|PMID:9859935 2783 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy severity ISO RGD:736606 D RGD:10449038|PMID:24930900 20151215 RGD 2783 Hbb hemoglobin subunit beta gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736606 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU PMID:8280608 2783 Hbb hemoglobin subunit beta gene DOID:5378 hemoglobin D disease ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease PMID:1177278|PMID:12403491|PMID:1244906|PMID:12709369|PMID:13590135|PMID:13872094|PMID:14160125|PMID:16370495|PMID:16540414|PMID:19958184|PMID:20110664|PMID:20301551|PMID:20437613|PMID:2079437|PMID:21194265|PMID:22028795|PMID:22975760|PMID:2307460|PMID:24123366|PMID:24245819|PMID:24616059|PMID:24814631|PMID:25087612|PMID:25666204|PMID:25741868|PMID:25818823|PMID:26467025|PMID:28492532|PMID:2887538|PMID:2895770|PMID:30626242|PMID:3557993|PMID:3557998|PMID:3838975|PMID:4078867|PMID:4991321|PMID:5050915|PMID:5672850|PMID:6322284|PMID:7338475|PMID:750553|PMID:8095930|PMID:9140717 2783 Hbb hemoglobin subunit beta gene DOID:5379 hemoglobin E disease ISO RGD:736606 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hemoglobin E disease PMID:11425418|PMID:12149194|PMID:12850492|PMID:13716853|PMID:14734204|PMID:15114532|PMID:15470211|PMID:15481886|PMID:16114182|PMID:16750922|PMID:17278112|PMID:18024613|PMID:18568278|PMID:19440680|PMID:1960615|PMID:19841268|PMID:20301599|PMID:20492708|PMID:21732929|PMID:22028795|PMID:22260787|PMID:24368026|PMID:24581976|PMID:25370867|PMID:25741868|PMID:26554862|PMID:28492532|PMID:3031297|PMID:4351905|PMID:5658717|PMID:5863839|PMID:6166632|PMID:6198908|PMID:6275383|PMID:6280057|PMID:6859036|PMID:700140|PMID:7177196|PMID:7395858|PMID:8839873|PMID:893136|PMID:9653159 2783 Hbb hemoglobin subunit beta gene DOID:583 hemolytic anemia ISO RGD:736606 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN HYOGO | ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN | ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK | ClinVar Annotator: match by term: HEMOGLOBIN SABINE | ClinVar Annotator: match by term: HEMOGLOBIN VOLGA | ClinVar Annotator: match by term: Hemoglobin Zurich | ClinVar Annotator: match by term: Hemolytic anemia PMID:10335981|PMID:10804732|PMID:1138885|PMID:13716725|PMID:13726693|PMID:13895148|PMID:14314237|PMID:15653458|PMID:18654884|PMID:19429541|PMID:2105568|PMID:2363414|PMID:2384314|PMID:24055728|PMID:24904938|PMID:26467025|PMID:26635043|PMID:2705488|PMID:27686852|PMID:3014870|PMID:3138875|PMID:3240605|PMID:3395624|PMID:3781864|PMID:42311|PMID:439565|PMID:4685078|PMID:5096522|PMID:5133275|PMID:6054966|PMID:6310991|PMID:6578506|PMID:6668191|PMID:6849326|PMID:6859031|PMID:6998928|PMID:7353889|PMID:7384813|PMID:7419425|PMID:7852089|PMID:8330973|PMID:952960|PMID:9629500|PMID:9859934 2783 Hbb hemoglobin subunit beta gene DOID:589 congenital hemolytic anemia ISO RGD:736606 D RGD:1600886|PMID:1520632 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:589 congenital hemolytic anemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW PMID:16790675|PMID:24200101|PMID:25741868|PMID:26467025|PMID:34528613|PMID:3839771|PMID:5713642|PMID:6815132|PMID:6877904|PMID:7852083|PMID:9798654 2783 Hbb hemoglobin subunit beta gene DOID:630 genetic disease ISO RGD:736606 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10602954|PMID:10815781|PMID:11001883|PMID:11425418|PMID:11545326|PMID:1163074|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144064|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12779277|PMID:12818227|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14084634|PMID:14282052|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:15000665|PMID:15114532|PMID:15181845|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:15697092|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:1634366|PMID:16421096|PMID:16470532|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:17278112|PMID:17287491|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17576681|PMID:17655700|PMID:1769663|PMID:17774955|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18105244|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18954999|PMID:19000664|PMID:19061217|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:19958185|PMID:2004023|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:2064964|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21131035|PMID:21228398|PMID:2123063|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22145566|PMID:22188014|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23431002|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:24033266|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24744675|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25244406|PMID:25370867|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25572186|PMID:25741868|PMID:2579336|PMID:25806420|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26041415|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26097845|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117567|PMID:27117572|PMID:27199182|PMID:27207683|PMID:27254408|PMID:27263053|PMID:27264598|PMID:27427187|PMID:27690257|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:29295702|PMID:29464999|PMID:29484903|PMID:29695942|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3021607|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:31106603|PMID:31130284|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31456457|PMID:31553106|PMID:31714438|PMID:32039214|PMID:32412692 2783 Hbb hemoglobin subunit beta gene DOID:630 genetic disease ISO RGD:736606 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32414341|PMID:32527859|PMID:3267215|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:3354556|PMID:33602051|PMID:33829933|PMID:34334128|PMID:3457470|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3799593|PMID:3821796|PMID:4086306|PMID:4232783|PMID:429843|PMID:4351905|PMID:4413625|PMID:4841979|PMID:49057|PMID:5658717|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5996551|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6308558|PMID:6320218|PMID:6457059|PMID:6500990|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6714226|PMID:6733281|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7137165|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7663000|PMID:7668219|PMID:7713749|PMID:7755625|PMID:7929232|PMID:7993409|PMID:808079|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8330981|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8619407|PMID:8839873|PMID:893136|PMID:909565|PMID:9113933|PMID:9160698|PMID:932531|PMID:9401495|PMID:9450794|PMID:9536098|PMID:9556665|PMID:9653159|PMID:9830011|PMID:9845707|PMID:9859938 2783 Hbb hemoglobin subunit beta gene DOID:8432 polycythemia ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1117598|PMID:7161106 2783 Hbb hemoglobin subunit beta gene DOID:8432 polycythemia ISO RGD:736606 D RGD:1600891|PMID:4719677 20070329 RGD DNA:point mutation:CDS:p.P100L (human 2783 Hbb hemoglobin subunit beta gene DOID:8432 polycythemia ISO RGD:736606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE | ClinVar Annotator: match by term: HEMOGLOBIN TAK PMID:10846826|PMID:11167851|PMID:12621249|PMID:15768557|PMID:18793248|PMID:18818920|PMID:19429541|PMID:19460936|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20838957|PMID:22145566|PMID:2363414|PMID:23859443|PMID:26467025|PMID:26544676|PMID:2703368|PMID:27651169|PMID:28492532|PMID:30423154|PMID:31304856|PMID:32925409|PMID:3957694|PMID:4101432|PMID:4808644|PMID:590504|PMID:604313|PMID:7204093|PMID:7295777|PMID:7417488|PMID:7615400|PMID:7918091|PMID:8144354|PMID:9494047 2783 Hbb hemoglobin subunit beta gene DOID:8997 polycythemia vera ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5773089 2783 Hbb hemoglobin subunit beta gene DOID:8997 polycythemia vera ISO RGD:736606 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF PMID:11300351|PMID:2816924 2783 Hbb hemoglobin subunit beta gene DOID:9000582 Reticulocytosis ISO RGD:736606 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN LAS PALMAS PMID:22718637|PMID:3384708 2783 Hbb hemoglobin subunit beta gene DOID:9000781 Cyanosis ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15929117 2783 Hbb hemoglobin subunit beta gene DOID:9000781 Cyanosis ISO RGD:736606 D RGD:1600888|PMID:1272328 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:9000781 Cyanosis ISO RGD:736606 D RGD:8554872 20180501 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN DENVER PMID:19429541|PMID:8133661 2783 Hbb hemoglobin subunit beta gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:7240710 20150729 OMIM 2783 Hbb hemoglobin subunit beta gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:1278400|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13665153|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13897827|PMID:1390250|PMID:1398295|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271 2783 Hbb hemoglobin subunit beta gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:3354556|PMID:3377987|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3838975|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4311041|PMID:4351905|PMID:4683875|PMID:49057|PMID:5285571|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5669922|PMID:5863839|PMID:5900783|PMID:5915974|PMID:6019668|PMID:604314|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6309649|PMID:6310991|PMID:6311728|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226097|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:933112|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9494043|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 2783 Hbb hemoglobin subunit beta gene DOID:9001341 Chloracne ISO RGD:736606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 2783 Hbb hemoglobin subunit beta gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:736606 D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO PMID:10335985 2783 Hbb hemoglobin subunit beta gene DOID:9002720 Splenomegaly ISO RGD:736606 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 2783 Hbb hemoglobin subunit beta gene DOID:9002720 Splenomegaly ISO RGD:736606 D RGD:1600896|PMID:10870887 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:9003104 Intracranial Hemorrhages IEP D RGD:10449050|PMID:21725744 20151215 RGD mRNA:increased expression:basal ganglion, neuron, glial cell 2783 Hbb hemoglobin subunit beta gene DOID:9004898 Jaundice ISO RGD:736606 D RGD:1600896|PMID:10870887 20070329 RGD 2783 Hbb hemoglobin subunit beta gene DOID:9005828 Sickle Cell Trait ISO RGD:736606 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) PMID:11757720|PMID:12144055|PMID:14311973|PMID:1891024|PMID:19429541|PMID:26119666|PMID:26467025|PMID:26635043|PMID:27207683|PMID:27521855|PMID:284392|PMID:29365076|PMID:30604644|PMID:5097135|PMID:5481775|PMID:6859036|PMID:974261 2783 Hbb hemoglobin subunit beta gene DOID:9006205 Animal Disease Models ISO RGD:736606 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:23975182|PMID:29255069 2783 Hbb hemoglobin subunit beta gene DOID:9006672 Hemoglobin SC Disease ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease PMID:10602954|PMID:11001883|PMID:11545326|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12818227|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13618691|PMID:13685866|PMID:1376298|PMID:13852872|PMID:14084634|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15395398|PMID:15543018|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16175509|PMID:1680789|PMID:17287491|PMID:17774955|PMID:1802884|PMID:18048408|PMID:18192399|PMID:19061217|PMID:19465909|PMID:19758965|PMID:1986365|PMID:19958185|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20305663|PMID:20492708|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21131035|PMID:21302591|PMID:21329186|PMID:21529713|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:2239966|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23297836|PMID:23591685|PMID:23729725|PMID:24033266|PMID:2412200|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25488433|PMID:25741868|PMID:2579336|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26661037|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28251416|PMID:28356267|PMID:28492532|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:30002798|PMID:30033078|PMID:30315176|PMID:3048433|PMID:30604644|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33091040|PMID:33116287|PMID:3354556|PMID:34334128|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3821796|PMID:4232783|PMID:49057|PMID:6268660|PMID:6272289|PMID:6280057|PMID:6285354|PMID:6583683|PMID:6584911|PMID:7137165|PMID:7229029|PMID:7384810|PMID:7993409|PMID:81926|PMID:8199597|PMID:8201467|PMID:8462981|PMID:909565|PMID:9556665|PMID:9859938 2783 Hbb hemoglobin subunit beta gene DOID:9007604 Hemoglobin M Disease ISO RGD:736606 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) PMID:1163074|PMID:13509426|PMID:13634986|PMID:13897827|PMID:13911805|PMID:14343445|PMID:14452533|PMID:15929117|PMID:18105244|PMID:19727720|PMID:20324533|PMID:24744675|PMID:27264598|PMID:4086306|PMID:4413625|PMID:4841979|PMID:5851873|PMID:5856115|PMID:5996551|PMID:6248489|PMID:7372598|PMID:7663000|PMID:7713749|PMID:7755625|PMID:7929232|PMID:9830011 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:732471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:417 autoimmune disease ISO RGD:732471 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:7240710 20230505 OMIM 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis PMID:34536415 2785 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732471 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:17344919 2786 Hcrt hypocretin neuropeptide precursor gene DOID:0050848 obstructive sleep apnea ISO RGD:731040 D RGD:1600936|PMID:15627867 20070330 RGD 2786 Hcrt hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder ISO RGD:731040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 2786 Hcrt hypocretin neuropeptide precursor gene DOID:11983 Prader-Willi syndrome ISO RGD:731040 D RGD:1600935|PMID:15613151 20070330 RGD 2786 Hcrt hypocretin neuropeptide precursor gene DOID:12842 Guillain-Barre syndrome ISO RGD:731040 D RGD:1600925|PMID:15623725 20070330 RGD 2786 Hcrt hypocretin neuropeptide precursor gene DOID:1289 neurodegenerative disease ISO RGD:731040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23246865 2786 Hcrt hypocretin neuropeptide precursor gene DOID:4195 hyperglycemia treatment IEP D RGD:1358430|PMID:12217430 20150320 RGD associated with Obesity 2786 Hcrt hypocretin neuropeptide precursor gene DOID:630 genetic disease ISO RGD:731040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2786 Hcrt hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISS RGD:731041 D RGD:13592920 20180518 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250 2786 Hcrt hypocretin neuropeptide precursor gene DOID:8986 narcolepsy no_association ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele) PMID:11723284|REF_RGD_ID:1600923 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9000641 Pain ISO RGD:731040 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16202530 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9002395 Hypothermia ISO RGD:731040 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26799708 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia IEP D RGD:1358429|PMID:12535169 19990101 RGD 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:731040 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:7240710 20131030 OMIM 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Narcolepsy 1 PMID:10973318 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9004657 Weight Gain ISO RGD:731040 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16357203 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity IEP D RGD:1358428|PMID:12560202 20150319 RGD mRNA:increased expression:perifornical nucleus 2786 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 2787 Hcrtr1 hypocretin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:734418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20667500 2787 Hcrtr1 hypocretin receptor 1 gene DOID:630 genetic disease ISO RGD:734418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2787 Hcrtr1 hypocretin receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16357203|PMID:19591850|PMID:19741128 2788 Hcrtr2 hypocretin receptor 2 gene DOID:4195 hyperglycemia treatment IEP D RGD:1358430|PMID:12217430 20150320 RGD associated with Obesity 2788 Hcrtr2 hypocretin receptor 2 gene DOID:630 genetic disease ISO RGD:1351591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2788 Hcrtr2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:1351591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 2790 Hdc histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:736253 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2790 Hdc histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:20445167|PMID:24411733|PMID:25741868 2790 Hdc histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736253 D RGD:7240710 20230505 OMIM 2790 Hdc histidine decarboxylase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:10706 D RGD:5143920|PMID:17158962 20110727 RGD 2790 Hdc histidine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:736253 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2790 Hdc histidine decarboxylase gene DOID:2841 asthma ISO RGD:736253 D RGD:5128884|PMID:20608921 20110322 RGD associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) 2790 Hdc histidine decarboxylase gene DOID:4483 rhinitis IEP D RGD:5143921|PMID:15054596 20110727 RGD 2790 Hdc histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:736253 D RGD:5128884|PMID:20608921 20110322 RGD DNA:SNP: :p.E644D (rs2073440) (human) 2790 Hdc histidine decarboxylase gene DOID:552 pneumonia ISO RGD:10706 D RGD:5143922|PMID:14556983 20110727 RGD 2790 Hdc histidine decarboxylase gene DOID:630 genetic disease ISO RGD:736253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2790 Hdc histidine decarboxylase gene DOID:9005369 Hepatomegaly ISO RGD:736253 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 2790 Hdc histidine decarboxylase gene DOID:9008527 Chlamydophila Infections ISO RGD:10706 D RGD:5143922|PMID:14556983 20110727 RGD 2790 Hdc histidine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:736253 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2792 Hexa hexosaminidase subunit alpha gene DOID:0110225 Brugada syndrome 8 ISO RGD:1352150 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 2792 Hexa hexosaminidase subunit alpha gene DOID:10579 leukodystrophy ISO RGD:1352150 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868 2792 Hexa hexosaminidase subunit alpha gene DOID:1059 intellectual disability ISO RGD:1352150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 2792 Hexa hexosaminidase subunit alpha gene DOID:1059 intellectual disability ISO RGD:1352150 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27054707|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:31293106|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 2792 Hexa hexosaminidase subunit alpha gene DOID:14753 isovaleric acidemia ISO RGD:1352150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:15065574|PMID:16199547|PMID:1833974|PMID:22723944|PMID:25741868|PMID:28492532|PMID:7827134|PMID:8490625 2792 Hexa hexosaminidase subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1352150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2792 Hexa hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:10707 D RGD:13673908|PMID:28974375 20180705 RGD 2792 Hexa hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11392526 2792 Hexa hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:7240710 20130221 OMIM 2792 Hexa hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult PMID:10083731|PMID:10464605|PMID:10571007|PMID:10584247|PMID:10852376|PMID:11161796|PMID:11317368|PMID:11463833|PMID:11596984|PMID:11707436|PMID:12027830|PMID:12180151|PMID:12202988|PMID:12689698|PMID:1269177|PMID:1301189|PMID:1301190|PMID:1301938|PMID:1301958|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1322637|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14648242|PMID:14685153|PMID:14724290|PMID:14727180|PMID:1483696|PMID:15065574|PMID:15108204|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17001642|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1827944|PMID:1827945|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18358410|PMID:1837283|PMID:18490185|PMID:18648917|PMID:19091716|PMID:19156839|PMID:19644708|PMID:19815695|PMID:19858779|PMID:1996872|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:20926324|PMID:21228398|PMID:2137287|PMID:2139660|PMID:2140574|PMID:2141777|PMID:2144098|PMID:2145759|PMID:21567908|PMID:21796138|PMID:21937992|PMID:21967858|PMID:22006919|PMID:22344438|PMID:22390110|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23035047|PMID:23359698|PMID:23820084|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:2531748|PMID:25326635|PMID:25525159|PMID:25557439|PMID:25606403|PMID:25640679|PMID:25741868|PMID:25741876|PMID:25860343|PMID:26350204|PMID:26467025|PMID:26633545|PMID:27033294|PMID:27054707|PMID:27362553|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2837213|PMID:2848800|PMID:28492532|PMID:28503624|PMID:28739864|PMID:29214523|PMID:2934978|PMID:29482223|PMID:2954459|PMID:2961848|PMID:2970528|PMID:2973311|PMID:2973464|PMID:29973161|PMID:30506202|PMID:31076878|PMID:31130284|PMID:31242539|PMID:31293106|PMID:31367523|PMID:31388111|PMID:31428437|PMID:31839005|PMID:32968423|PMID:33083013|PMID:33240792|PMID:33426165|PMID:33547378|PMID:3362213|PMID:3375249|PMID:3754980|PMID:3837850|PMID:6236221|PMID:6959123|PMID:7063277|PMID:7551830|PMID:7717398|PMID:7749419|PMID:7827134|PMID:7837766|PMID:7858168|PMID:7898712|PMID:7902672|PMID:7951261|PMID:803011|PMID:8044648|PMID:8081943|PMID:8123671|PMID:8230592|PMID:8257995|PMID:8326491|PMID:8328462|PMID:8328470|PMID:8343225|PMID:8352284|PMID:8397824|PMID:8444467|PMID:8445615|PMID:8484765|PMID:8488832|PMID:8490625|PMID:8581357|PMID:8672428|PMID:8730294|PMID:8757036|PMID:8995368|PMID:9090523|PMID:9090529|PMID:9150157|PMID:9153525|PMID:9169471|PMID:9222766|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901|PMID:9851891 2792 Hexa hexosaminidase subunit alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset PMID:10852376|PMID:14724290|PMID:1483696|PMID:15714079|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:31367523|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:8757036|PMID:9090523|PMID:9536098 2792 Hexa hexosaminidase subunit alpha gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:18358410|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:33083013|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 2792 Hexa hexosaminidase subunit alpha gene DOID:630 genetic disease ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10083731|PMID:10571007|PMID:10852376|PMID:11317368|PMID:11463833|PMID:11707436|PMID:12202988|PMID:1301190|PMID:1301938|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14727180|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17015493|PMID:17237499|PMID:17576681|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:1837283|PMID:18490185|PMID:19091716|PMID:19815695|PMID:19858779|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:21228398|PMID:2137287|PMID:2140574|PMID:2144098|PMID:2145759|PMID:22006919|PMID:22344438|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23359698|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:25557439|PMID:25606403|PMID:25741868|PMID:25741876|PMID:26633545|PMID:27033294|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2848800|PMID:28492532|PMID:28503624|PMID:29214523|PMID:2961848|PMID:2970528|PMID:2973311|PMID:31076878|PMID:31367523|PMID:6236221|PMID:6959123|PMID:7551830|PMID:7858168|PMID:8123671|PMID:8230592|PMID:8326491|PMID:8328462|PMID:8343225|PMID:8352284|PMID:8444467|PMID:8488832|PMID:8490625|PMID:8672428|PMID:8730294|PMID:8995368|PMID:9169471|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9694901 2792 Hexa hexosaminidase subunit alpha gene DOID:9001313 Gm2-Gangliosidosis, Adult Chronic Type ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset PMID:10852376|PMID:14566483|PMID:14577003|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:17015493|PMID:17237499|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22789865|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:9536098 2792 Hexa hexosaminidase subunit alpha gene DOID:9001497 Tay-Sachs Disease, Juvenile ISO RGD:1352150 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tay-sachs disease, juvenile PMID:1301189|PMID:25741868 2792 Hexa hexosaminidase subunit alpha gene DOID:9003240 Tay-Sachs Disease, Variant B1 ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant PMID:10584247|PMID:1302612|PMID:1318511|PMID:14577003|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:27896118|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294|PMID:9272736 2792 Hexa hexosaminidase subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 2792 Hexa hexosaminidase subunit alpha gene DOID:9006548 Gm2-Gangliosidosis, Variant B1 ISO RGD:1352150 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 PMID:1532289 2792 Hexa hexosaminidase subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294 2792 Hexa hexosaminidase subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352150 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2793 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy no_association ISO RGD:1345296 D RGD:10755538|PMID:23861158 20160201 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy treatment ISO RGD:1345296 D RGD:10755538|PMID:23861158 20160201 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:10755559|PMID:12624489 20160201 RGD DNA:missense mutations:cds:p.H63D, p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17001480 2793 Hfe homeostatic iron regulator gene DOID:0060041 autism spectrum disorder ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 2793 Hfe homeostatic iron regulator gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:1345296 D RGD:8694354|PMID:15834437 20140804 RGD DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345296 D RGD:8694420|PMID:9453491 20140805 RGD DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1345296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alzheimer disease type 1 | ClinVar Annotator: match by term: Early-onset familial form of Alzheimer disease PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 2793 Hfe homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10950943|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14633868|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20117027|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 2793 Hfe homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 2793 Hfe homeostatic iron regulator gene DOID:0111034 hemochromatosis type 2 ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:10652 Alzheimer's disease ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15060098|PMID:17047092 2793 Hfe homeostatic iron regulator gene DOID:10652 Alzheimer's disease ISO RGD:1345296 D RGD:1358657|PMID:15060098 19990101 RGD with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:10652 Alzheimer's disease ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:11476 osteoporosis ISO RGD:736272 D RGD:14746963|PMID:26829642 20190906 RGD associated with hemochromatosis 2793 Hfe homeostatic iron regulator gene DOID:11713 diabetic angiopathy ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 2793 Hfe homeostatic iron regulator gene DOID:11758 iron deficiency anemia ISO RGD:1345296 D RGD:14701052|PMID:29194702 20190905 RGD associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:10755489|PMID:14703689 20160129 RGD 2793 Hfe homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:10755537|PMID:17160266 20160201 RGD DNA:missense mutation: :p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:12241 beta thalassemia no_association ISO RGD:1345296 D RGD:10755537|PMID:17160266 20160201 RGD DNA:missense mutations: :p.H63D, p.S65C (human) 2793 Hfe homeostatic iron regulator gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1345296 D RGD:1582687|PMID:11040018 20061117 RGD 2793 Hfe homeostatic iron regulator gene DOID:13268 porphyria ISO RGD:1345296 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM PMID:10401000|PMID:25741868 2793 Hfe homeostatic iron regulator gene DOID:14330 Parkinson's disease ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16824219 2793 Hfe homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16880463|PMID:16979952|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26365338|PMID:26975792|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 2793 Hfe homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:23178241|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26153218|PMID:26365338|PMID:26975792|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 2793 Hfe homeostatic iron regulator gene DOID:1485 cystic fibrosis severity ISO RGD:1345296 D RGD:14701045|PMID:30291871 20190905 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:1612 breast cancer no_association ISO RGD:1345296 D RGD:8694349|PMID:15894659 20140804 RGD DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:1612 breast cancer susceptibility ISO RGD:1345296 D RGD:8694348|PMID:14973098 20140804 RGD DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:1883 hepatitis C ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15865084 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:10755540|PMID:12850493 20160201 RGD associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11050162|PMID:16793930|PMID:17119292|PMID:17236123|PMID:17255318|PMID:17258727|PMID:17376729|PMID:18317567|PMID:20160468|PMID:20843714|PMID:21411349|PMID:22383097|PMID:23705020|PMID:25874029 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:14746965|PMID:30651232 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:7207252|PMID:8696333 20130125 RGD 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:10194428|PMID:10348824|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10545942|PMID:10545944|PMID:10575540|PMID:10610176|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15324319|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16199547|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18042412|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21228038|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24442307|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:8694372|PMID:10194428 20140804 RGD DNA:missense mutation:cds:p.S65C (human) 2793 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:736272 D RGD:8694411|PMID:12190960 20140805 RGD 2793 Hfe homeostatic iron regulator gene DOID:2394 ovarian cancer susceptibility ISO RGD:1345296 D RGD:8694371|PMID:16216474 20140804 RGD DNA:missense mutation:cds:p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:1345296 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:12622622 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:1345296 D RGD:14701050|PMID:27661980 20190905 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:736272 D RGD:7207253|PMID:11134514 20130125 RGD 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda no_association ISO RGD:1345296 D RGD:8694367|PMID:17137171 20140804 RGD DNA:missense mutations:cds:p.C282Y, p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 2793 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:1345296 D RGD:8694347|PMID:19001803 20140804 RGD DNA:missense mutations:cds:p.C282Y, p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:3393 coronary artery disease no_association ISO RGD:1345296 D RGD:1582673|PMID:12746412 20061116 RGD 2793 Hfe homeostatic iron regulator gene DOID:3407 carotid artery disease no_association ISO RGD:1345296 D RGD:1582684|PMID:16886838 20061117 RGD 2793 Hfe homeostatic iron regulator gene DOID:341 peripheral vascular disease no_association ISO RGD:1345296 D RGD:1582671|PMID:15175819 20061116 RGD 2793 Hfe homeostatic iron regulator gene DOID:409 liver disease ISO RGD:1345296 D RGD:14746965|PMID:30651232 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:4346 variegate porphyria ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:4346 variegate porphyria susceptibility ISO RGD:1345296 D RGD:7240710 20230517 OMIM 2793 Hfe homeostatic iron regulator gene DOID:4971 myelofibrosis no_association ISO RGD:1345296 D RGD:10755491|PMID:19258483 20160129 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) 2793 Hfe homeostatic iron regulator gene DOID:4971 myelofibrosis susceptibility ISO RGD:1345296 D RGD:10755491|PMID:19258483 20160129 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:5082 liver cirrhosis ISO RGD:1345296 D RGD:14701047|PMID:27816425 20190905 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:574 peripheral nervous system disease ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:5844 myocardial infarction no_association ISO RGD:1345296 D RGD:1582672|PMID:12850485 20061116 RGD 2793 Hfe homeostatic iron regulator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345296 D RGD:1582697|PMID:10491370 20061117 RGD 2793 Hfe homeostatic iron regulator gene DOID:630 genetic disease ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345296 D RGD:8694357|PMID:16047841 20140804 RGD DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1345296 D RGD:2317357|PMID:20019189 20140805 RGD associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345296 D RGD:14746967|PMID:29642405 20190906 RGD 2793 Hfe homeostatic iron regulator gene DOID:7148 rheumatoid arthritis ISO RGD:1345296 D RGD:14746965|PMID:30651232 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:8398 osteoarthritis ISO RGD:1345296 D RGD:14746965|PMID:30651232 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:8437 intestinal obstruction ISO RGD:1345296 D RGD:14701045|PMID:30291871 20190905 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:8466 retinal degeneration ISO RGD:736272 D RGD:8694351|PMID:19715555 20140804 RGD 2793 Hfe homeostatic iron regulator gene DOID:853 polymyalgia rheumatica ISO RGD:1345296 D RGD:14746966|PMID:30657865 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:870 neuropathy ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:8778 Crohn's disease treatment ISO RGD:1345296 D RGD:14701051|PMID:27115882 20190905 RGD DNA:SNP: :rs2071303 (human) 2793 Hfe homeostatic iron regulator gene DOID:8947 diabetic retinopathy ISO RGD:1345296 D RGD:8694362|PMID:15347835 20140804 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:8997 polycythemia vera no_association ISO RGD:1345296 D RGD:10755491|PMID:19258483 20160129 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) 2793 Hfe homeostatic iron regulator gene DOID:8997 polycythemia vera susceptibility ISO RGD:1345296 D RGD:10755491|PMID:19258483 20160129 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:9000300 Refractory Anemia ISO RGD:1345296 D RGD:10755539|PMID:17654685 20160201 RGD associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9000300 Refractory Anemia no_association ISO RGD:1345296 D RGD:10755539|PMID:17654685 20160201 RGD associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9000412 Presenile and Senile Dementia ISO RGD:1345296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:9000641 Pain ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:8694397|PMID:18599584 20140804 RGD mRNA:increased expression:liver, Kupffer cell (rat) 2793 Hfe homeostatic iron regulator gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345296 D RGD:8694362|PMID:15347835 20140804 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9003936 Cardiomegaly ISO RGD:736272 D RGD:14746969|PMID:28720890 20190906 RGD associated with hemochromatosis 2793 Hfe homeostatic iron regulator gene DOID:9003996 Birth Weight ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 2793 Hfe homeostatic iron regulator gene DOID:9004272 Varicose Ulcer onset ISO RGD:1345296 D RGD:8694379|PMID:16678024 20140804 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9004272 Varicose Ulcer susceptibility ISO RGD:1345296 D RGD:1582685|PMID:16102632 20061117 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:10755536|PMID:14636644 20160201 RGD DNA:missense mutation: :p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:10755541|PMID:11869934 20160201 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:10755536|PMID:14636644 20160201 RGD DNA:missense mutation: :multiple 2793 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:10755542|PMID:10895137 20160201 RGD DNA:missense mutations: :p.C282Y, p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9005734 Abdominal Pain ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abdominal pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345296 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 2793 Hfe homeostatic iron regulator gene DOID:9006465 Meconium Ileus ISO RGD:1345296 D RGD:14701045|PMID:30291871 20190905 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9006534 Nervous System Malformations ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:20301613|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23953397|PMID:24033266|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 2793 Hfe homeostatic iron regulator gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1345296 D RGD:1582695|PMID:11545759 20061117 RGD 2793 Hfe homeostatic iron regulator gene DOID:9008520 Chronic Pain ISO RGD:1345296 D RGD:14746966|PMID:30657865 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:9008824 Sarcopenia ISO RGD:1345296 D RGD:14746966|PMID:30657865 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:9008914 Lead Poisoning ISO RGD:1345296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 2793 Hfe homeostatic iron regulator gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345296 D RGD:8694350|PMID:10383894 20140804 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9351 diabetes mellitus ISO RGD:1345296 D RGD:14746965|PMID:30651232 20190906 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) 2793 Hfe homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345296 D RGD:14701045|PMID:30291871 20190905 RGD associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345296 D RGD:8694381|PMID:20097100 20140804 RGD DNA:missense mutation:cds:p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9452 fatty liver disease ISO RGD:1345296 D RGD:1601452|PMID:11473047 20070420 RGD non-alcoholic fatty liver disease 2793 Hfe homeostatic iron regulator gene DOID:9452 fatty liver disease no_association ISO RGD:1345296 D RGD:1601460|PMID:12105842 20070420 RGD Non-alcoholic steatohepatitis (NASH) 2793 Hfe homeostatic iron regulator gene DOID:9538 multiple myeloma susceptibility ISO RGD:1345296 D RGD:8694350|PMID:10383894 20140804 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9663 aphthous stomatitis ISO RGD:1345296 D RGD:14746964|PMID:28950260 20190906 RGD DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:10755557|PMID:10627122 20160201 RGD DNA:missense mutation:cds:p.C282Y (human) 2793 Hfe homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:10755558|PMID:17107905 20160201 RGD DNA:missense mutation: :p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1345296 D RGD:10755557|PMID:10627122 20160201 RGD DNA:missense mutation:cds:p.H63D (human) 2793 Hfe homeostatic iron regulator gene DOID:9970 obesity ISO RGD:1345296 D RGD:1601449|PMID:10705106 20070420 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) 2794 Hgf hepatocyte growth factor gene DOID:0050625 biliary tract benign neoplasm ISO RGD:70837 D RGD:2317903|PMID:12819026 20100429 RGD mRNA:increased expression: : 2794 Hgf hepatocyte growth factor gene DOID:0050700 cardiomyopathy ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16109756|PMID:18083897 2794 Hgf hepatocyte growth factor gene DOID:0050834 CHARGE syndrome ISO RGD:70837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 2794 Hgf hepatocyte growth factor gene DOID:0050852 limb ischemia treatment ISO RGD:70837 D RGD:8548639|PMID:15238569 20140314 RGD 2794 Hgf hepatocyte growth factor gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70837 D RGD:8548612|PMID:20848408 20140313 RGD protein:increased expression:tongue: 2794 Hgf hepatocyte growth factor gene DOID:0060041 autism spectrum disorder ISO RGD:70837 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2794 Hgf hepatocyte growth factor gene DOID:0060224 atrial fibrillation ISO RGD:70837 D RGD:8548608|PMID:15008956 20140313 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:0060903 thrombosis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15367830 2794 Hgf hepatocyte growth factor gene DOID:0080600 COVID-19 ISO RGD:70837 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2794 Hgf hepatocyte growth factor gene DOID:0080600 COVID-19 severity ISO RGD:70837 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 2794 Hgf hepatocyte growth factor gene DOID:0080745 polymyositis disease_progression ISO RGD:70837 D RGD:8548628|PMID:8952317 20140313 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:70837 D RGD:8548544|PMID:11390418 20140311 RGD 2794 Hgf hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:7240710 20130221 OMIM 2794 Hgf hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:8548545|PMID:19576567 20140311 RGD DNA:deletions,mutation:intron,exon: 2794 Hgf hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 39 PMID:18564920|PMID:19576567|PMID:24033266|PMID:25741868|PMID:28492532 2794 Hgf hepatocyte growth factor gene DOID:10126 keratoconus ISO RGD:70837 D RGD:8548553|PMID:24416191 20140311 RGD DNA:SNP: : rs2286194(human) 2794 Hgf hepatocyte growth factor gene DOID:10223 dermatomyositis disease_progression ISO RGD:70837 D RGD:8548628|PMID:8952317 20140313 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:70837 D RGD:8548602|PMID:20053975 20140312 RGD protein:increased expression:vitreous humor: 2794 Hgf hepatocyte growth factor gene DOID:10763 hypertension ISO RGD:70837 D RGD:1642064|PMID:15127882 20070830 RGD 2794 Hgf hepatocyte growth factor gene DOID:10763 hypertension susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:polymorphism:intron13:C/A PMID:15127882|REF_RGD_ID:1642064 2794 Hgf hepatocyte growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:70837 D RGD:8548631|PMID:18941443 20140314 RGD 2794 Hgf hepatocyte growth factor gene DOID:11830 myopia ISO RGD:70837 D RGD:1642706|PMID:16723436 20071010 RGD 2794 Hgf hepatocyte growth factor gene DOID:11830 myopia no_association ISO RGD:70837 D RGD:8548600|PMID:19060265 20140312 RGD DNA:SNP: : rs3735520(human) 2794 Hgf hepatocyte growth factor gene DOID:11830 myopia susceptibility ISO RGD:70837 D RGD:8548542|PMID:19471602 20140311 RGD DNA:SNPs,haplotypes:multiple: 2794 Hgf hepatocyte growth factor gene DOID:12306 vitiligo treatment ISO RGD:70837 D RGD:8548598|PMID:16117796 20140312 RGD 2794 Hgf hepatocyte growth factor gene DOID:13025 retinopathy of prematurity ISO RGD:70837 D RGD:8548546|PMID:10751359 20140311 RGD 2794 Hgf hepatocyte growth factor gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:70837 D RGD:8548548|PMID:23585864 20140311 RGD DNA:SNPs,haplotype::rs5745718,rs1742817(human) 2794 Hgf hepatocyte growth factor gene DOID:14256 adult-onset Still's disease ISO RGD:70837 D RGD:8548659|PMID:24387171 20140318 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:14330 Parkinson's disease ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16791285 2794 Hgf hepatocyte growth factor gene DOID:1612 breast cancer ISS RGD:10708 D RGD:13592920 20180518 MouseDO OMIM:114480 2794 Hgf hepatocyte growth factor gene DOID:1749 squamous cell carcinoma ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21273587 2794 Hgf hepatocyte growth factor gene DOID:178 vascular disease ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15071489 2794 Hgf hepatocyte growth factor gene DOID:1790 malignant mesothelioma ISO RGD:70837 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2794 Hgf hepatocyte growth factor gene DOID:1793 pancreatic cancer ISO RGD:70837 D RGD:2317895|PMID:20017454 20100429 RGD protein:increased expression:serum 2794 Hgf hepatocyte growth factor gene DOID:1826 epilepsy ISO RGD:70837 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 2794 Hgf hepatocyte growth factor gene DOID:2349 arteriosclerosis severity ISO RGD:70837 D RGD:8548601|PMID:9350587 20140312 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:70837 D RGD:8548604|PMID:9073133 20140312 RGD 2794 Hgf hepatocyte growth factor gene DOID:3069 malignant astrocytoma ISO RGD:70837 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 2794 Hgf hepatocyte growth factor gene DOID:3070 high grade glioma disease_progression ISO RGD:70837 D RGD:8548633|PMID:12115353 20140314 RGD protein:increased expression:brain: 2794 Hgf hepatocyte growth factor gene DOID:3082 interstitial lung disease severity ISO RGD:70837 D RGD:8548623|PMID:21520010 20140313 RGD associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human) 2794 Hgf hepatocyte growth factor gene DOID:3179 inverted papilloma ISO RGD:70837 D RGD:8548614|PMID:22730814 20140313 RGD protein:increased expression:inferior nasal concha: 2794 Hgf hepatocyte growth factor gene DOID:331 central nervous system disease ISO RGD:70837 D RGD:8548547|PMID:12100369 20140311 RGD protein:increased expression:cerebrospinal fluid: 2794 Hgf hepatocyte growth factor gene DOID:3393 coronary artery disease ISO RGD:70837 D RGD:8548610|PMID:11669408 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:3407 carotid artery disease ISO RGD:70837 D RGD:2313566|PMID:16759302 20091001 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 2794 Hgf hepatocyte growth factor gene DOID:3454 brain infarction treatment IDA D RGD:8548626|PMID:16421510 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:3565 meningioma disease_progression ISO RGD:70837 D RGD:8548633|PMID:12115353 20140314 RGD protein:increased expression:brain: 2794 Hgf hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 2794 Hgf hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:8548628|PMID:8952317 20140313 RGD associated with myositis;protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:418 systemic scleroderma ISO RGD:70837 D RGD:8548659|PMID:24387171 20140318 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:418 systemic scleroderma severity ISO RGD:70837 D RGD:8548651|PMID:22286923 20140318 RGD mRNA:increased expression:skin: 2794 Hgf hepatocyte growth factor gene DOID:418 systemic scleroderma treatment ISO RGD:70837 D RGD:8548624|PMID:17049072 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70837 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2794 Hgf hepatocyte growth factor gene DOID:4947 cholangiocarcinoma IEP D RGD:2317925|PMID:10827151 20100430 RGD mRNA, protein:increased expression: : 2794 Hgf hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:70837 D RGD:2317909|PMID:16974053 20100430 RGD protein:increased expression:serum 2794 Hgf hepatocyte growth factor gene DOID:4989 pancreatitis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14751415 2794 Hgf hepatocyte growth factor gene DOID:5082 liver cirrhosis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17097021 2794 Hgf hepatocyte growth factor gene DOID:5419 schizophrenia ISO RGD:70837 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2794 Hgf hepatocyte growth factor gene DOID:5844 myocardial infarction ISO RGD:70837 D RGD:8548609|PMID:12419930 20140313 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:5844 myocardial infarction treatment ISO RGD:70837 D RGD:8548632|PMID:16570015 20140314 RGD 2794 Hgf hepatocyte growth factor gene DOID:630 genetic disease ISO RGD:70837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 2794 Hgf hepatocyte growth factor gene DOID:633 myositis disease_progression ISO RGD:70837 D RGD:8548628|PMID:8952317 20140313 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:70837 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:9932610|PMID:11896611 2794 Hgf hepatocyte growth factor gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:70837 D RGD:8548659|PMID:24387171 20140318 RGD protein:increased expression:serum: 2794 Hgf hepatocyte growth factor gene DOID:769 neuroblastoma ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16051641 2794 Hgf hepatocyte growth factor gene DOID:8466 retinal degeneration treatment ISO RGD:70837 D RGD:8548603|PMID:15505072 20140312 RGD 2794 Hgf hepatocyte growth factor gene DOID:8472 localized scleroderma treatment ISO RGD:70837 D RGD:8548627|PMID:14712301 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:869 cholesteatoma ISO RGD:70837 D RGD:8547969|PMID:15267172 20140311 RGD protein:increased expression:fibroblast: 2794 Hgf hepatocyte growth factor gene DOID:8947 diabetic retinopathy ISO RGD:70837 D RGD:8548539|PMID:15525877 20140311 RGD 2794 Hgf hepatocyte growth factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:70837 D RGD:2313565|PMID:18335393 20091001 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum 2794 Hgf hepatocyte growth factor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70837 D RGD:2317899|PMID:15118756 20100429 RGD 2794 Hgf hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2317487|PMID:17549731 20140318 RGD mRNA,protein:increased expression:spinal cord: 2794 Hgf hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:2317487|PMID:17549731 20140318 RGD 2794 Hgf hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:70837 D RGD:8548666|PMID:22140459 20140318 RGD 2794 Hgf hepatocyte growth factor gene DOID:9000319 Lentigo ISO RGD:70837 D RGD:8548653|PMID:20662835 20140318 RGD protein:increased expression:dermis: 2794 Hgf hepatocyte growth factor gene DOID:9000386 Polyomavirus Infections ISO RGD:70837 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2794 Hgf hepatocyte growth factor gene DOID:9000641 Pain ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26000320 2794 Hgf hepatocyte growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12890377 2794 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:10708 D RGD:8548625|PMID:16459153 20140313 RGD associated with Mammary Neoplasms, Experimental; 2794 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:25971889 2794 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:2317904|PMID:11893931 20100429 RGD associated with Pancreatic Neoplasms 2794 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:8548538|PMID:10688652 20140311 RGD associated with Melanoma; 2794 Hgf hepatocyte growth factor gene DOID:9001044 Choroidal Neovascularization IEP D RGD:8548599|PMID:19013152 20140312 RGD protein:increased expression:choroidal tissue: 2794 Hgf hepatocyte growth factor gene DOID:9001472 Nasal Polyps ISO RGD:70837 D RGD:8548613|PMID:16982975 20140313 RGD mRNA,protein:increased expression:nasal cavity mucosa: 2794 Hgf hepatocyte growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10677585|PMID:12918455|PMID:15793283|PMID:16465399|PMID:16627068|PMID:17714472|PMID:18637143 2794 Hgf hepatocyte growth factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11896611 2794 Hgf hepatocyte growth factor gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70837 D RGD:8548635|PMID:16572191 20140314 RGD 2794 Hgf hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:8548551|PMID:11818401 20140311 RGD mRNA,protein:increased expression:retina: 2794 Hgf hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70837 D RGD:8548551|PMID:11818401 20140311 RGD 2794 Hgf hepatocyte growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:70837 D RGD:2313567|PMID:16340242 20091002 RGD 2794 Hgf hepatocyte growth factor gene DOID:9002170 Experimental Neoplasms ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21273587 2794 Hgf hepatocyte growth factor gene DOID:9004001 Facial Nerve Injuries treatment IDA D RGD:8548634|PMID:21562589 20140314 RGD 2794 Hgf hepatocyte growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2794 Hgf hepatocyte growth factor gene DOID:9004118 Experimental Melanoma ISO RGD:10708 D RGD:8548620|PMID:9823327 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:70837 D RGD:2317564|PMID:9308731 20140314 RGD protein:increased expression: : 2794 Hgf hepatocyte growth factor gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:10708 D RGD:8548621|PMID:10919643 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:9004538 Hearing Loss ISO RGD:70837 D RGD:8548550|PMID:14630698 20140311 RGD 2794 Hgf hepatocyte growth factor gene DOID:9004538 Hearing Loss ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 2794 Hgf hepatocyte growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70837 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:9932610|PMID:15654357 2794 Hgf hepatocyte growth factor gene DOID:9004590 Acute Liver Failure ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12479984 2794 Hgf hepatocyte growth factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313568|PMID:16297324 20091002 RGD protein:increased expression:kidney 2794 Hgf hepatocyte growth factor gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:70837 D RGD:8548615|PMID:20416453 20140313 RGD DNA:haplotype::rs38850,rs38855,rs38857(human) 2794 Hgf hepatocyte growth factor gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 2794 Hgf hepatocyte growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:70837 D RGD:1642702|PMID:15713721 20071010 RGD 2794 Hgf hepatocyte growth factor gene DOID:9007096 Stroke treatment IDA D RGD:8548626|PMID:16421510 20140313 RGD 2794 Hgf hepatocyte growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12447174 2794 Hgf hepatocyte growth factor gene DOID:9007188 Liver Neoplasms ISO RGD:70837 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:8807143 2794 Hgf hepatocyte growth factor gene DOID:9007748 Retinal Neovascularization ISO RGD:10708 D RGD:8548541|PMID:17389513 20140311 RGD mRNA:increased expression:retina: 2794 Hgf hepatocyte growth factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70837 D RGD:8548549|PMID:21443522 20140311 RGD 2794 Hgf hepatocyte growth factor gene DOID:9008510 Chronic Hepatitis ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 2794 Hgf hepatocyte growth factor gene DOID:9008691 Liver Injury treatment ISO RGD:70837 D RGD:8548597|PMID:16246197 20140312 RGD 2794 Hgf hepatocyte growth factor gene DOID:9119 acute myeloid leukemia ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 2794 Hgf hepatocyte growth factor gene DOID:9206 Barrett's esophagus ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 2794 Hgf hepatocyte growth factor gene DOID:9351 diabetes mellitus ISO RGD:70837 D RGD:2313569|PMID:16186340 20091002 RGD mRNA, protein:increased expression:cornea 2794 Hgf hepatocyte growth factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70837 D RGD:8548540|PMID:10967068 20140311 RGD protein:increased expression:vitreous humor: 2794 Hgf hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26000320 2794 Hgf hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:2313570|PMID:15734864 20091002 RGD associated with Diabetes Mellitus, Experimental 2794 Hgf hepatocyte growth factor gene DOID:9970 obesity ISO RGD:70837 D RGD:1642704|PMID:12706940 20071010 RGD protein:increased expression:serum 2796 Hk1 hexokinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532|PMID:30778173 2796 Hk1 hexokinase 1 gene DOID:0080600 COVID-19 ISO RGD:737450 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2796 Hk1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:7240710 20130731 OMIM 2796 Hk1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type PMID:10915613|PMID:11601496|PMID:17576681|PMID:19536174|PMID:22978647|PMID:23996628|PMID:25741868|PMID:28492532|PMID:30778173|PMID:9536098 2796 Hk1 hexokinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737450 D RGD:13673896|PMID:25190649 20180628 RGD DNA:mutation:cds:c.2539G>A,p.Glu847Lys(human) 2796 Hk1 hexokinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737450 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30778173 2796 Hk1 hexokinase 1 gene DOID:10923 sickle cell anemia ISO RGD:737450 D RGD:11353884|PMID:5686464 20160726 RGD protein:alternative form:erythrocyte 2796 Hk1 hexokinase 1 gene DOID:11054 urinary bladder cancer treatment IDA D RGD:11353960|PMID:23893687 20160727 RGD 2796 Hk1 hexokinase 1 gene DOID:1826 epilepsy ISO RGD:737450 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 2796 Hk1 hexokinase 1 gene DOID:2355 anemia ISO RGD:737450 D RGD:11353879|PMID:19651813 20160726 RGD DNA:SNP: :rs7072268 (human) 2796 Hk1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10710 D RGD:11353878|PMID:11783948 20160726 RGD DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte 2796 Hk1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737450 D RGD:1601519|PMID:7655856 20070424 RGD DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human) 2796 Hk1 hexokinase 1 gene DOID:3612 retinitis ISO RGD:737450 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis PMID:25741868|PMID:28492532 2796 Hk1 hexokinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737450 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2796 Hk1 hexokinase 1 gene DOID:4448 macular degeneration ISO RGD:737450 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28492532 2796 Hk1 hexokinase 1 gene DOID:630 genetic disease ISO RGD:737450 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30778173 2796 Hk1 hexokinase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:11353880|PMID:25767292 20160726 RGD mRNA:increased expression:lung 2796 Hk1 hexokinase 1 gene DOID:8501 fundus dystrophy ISO RGD:737450 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615 2796 Hk1 hexokinase 1 gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11353961|PMID:24525799 20160727 RGD mRNA, protein:increased expression:cardiac ventricle 2796 Hk1 hexokinase 1 gene DOID:9000780 Hexokinase Deficiency Hemolytic Anemia ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 2796 Hk1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:7240710 20191016 OMIM 2796 Hk1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies PMID:25741868|PMID:28492532|PMID:30778173 2796 Hk1 hexokinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30778173 2796 Hk1 hexokinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2796 Hk1 hexokinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737450 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2796 Hk1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:7240710 20130731 OMIM 2796 Hk1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 2796 Hk1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:7240710 20190315 OMIM 2796 Hk1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 79 PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615|PMID:30778173 2796 Hk1 hexokinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2796 Hk1 hexokinase 1 gene DOID:9256 colorectal cancer IEP D RGD:11353883|PMID:19877886 20160726 RGD 2796 Hk1 hexokinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2796 Hk1 hexokinase 1 gene DOID:9538 multiple myeloma ISO RGD:737450 D RGD:11353882|PMID:19996089 20160726 RGD 2796 Hk1 hexokinase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737450 D RGD:11353881|PMID:21921332 20160726 RGD protein:decreased activity:platelet 2796 Hk1 hexokinase 1 gene DOID:9970 obesity ISO RGD:737450 D RGD:1601527|PMID:131232 20070424 RGD 2796 Hk1 hexokinase 1 gene DOID:9970 obesity susceptibility IDA D RGD:1601528|PMID:12524468 20070424 RGD 2797 Hk2 hexokinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733090 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2797 Hk2 hexokinase 2 gene DOID:630 genetic disease ISO RGD:733090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2797 Hk2 hexokinase 2 gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11353961|PMID:24525799 20160727 RGD mRNA, protein:increased expression:cardiac ventricle 2797 Hk2 hexokinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:733090 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2797 Hk2 hexokinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2797 Hk2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733090 D RGD:2313227|PMID:11319725 20090914 RGD 2797 Hk2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735576 D RGD:2313229|PMID:7813813 20090914 RGD mRNA:decreased expression:epididymal fat pad, quadriceps 2797 Hk2 hexokinase 2 gene DOID:9970 obesity IEP D RGD:1624365|PMID:16555472 20070510 RGD mRNA:increased expression:gastrocnemius 2797 Hk2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 2797 Hk2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:2313227|PMID:11319725 20090914 RGD 2798 Hk3 hexokinase 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 2798 Hk3 hexokinase 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2798 Hk3 hexokinase 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 2798 Hk3 hexokinase 3 gene DOID:2843 long QT syndrome ISO RGD:736939 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 2798 Hk3 hexokinase 3 gene DOID:409 liver disease ISO RGD:736939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2798 Hk3 hexokinase 3 gene DOID:630 genetic disease ISO RGD:736939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2798 Hk3 hexokinase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736939 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2798 Hk3 hexokinase 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736939 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 2801 Hmbs hydroxymethylbilane synthase gene DOID:0060017 CD3epsilon deficiency ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2801 Hmbs hydroxymethylbilane synthase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:733095 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:18414213|PMID:25741868|PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:0080690 RASopathy ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:0081330 glycogen storage disease Ib ISO RGD:733095 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:0110651 long QT syndrome 10 ISO RGD:733095 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:733095 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:18414213|PMID:25741868|PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2801 Hmbs hydroxymethylbilane synthase gene DOID:0111971 immunodeficiency 18 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2801 Hmbs hydroxymethylbilane synthase gene DOID:0111972 immunodeficiency 19 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2801 Hmbs hydroxymethylbilane synthase gene DOID:0111973 immunodeficiency 17 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 2801 Hmbs hydroxymethylbilane synthase gene DOID:10286 prostate carcinoma ISO RGD:733095 D RGD:2301682|PMID:16211407 20081028 RGD mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.009) (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:10923 sickle cell anemia ISO RGD:733095 D RGD:12904674|PMID:900140 20170517 RGD protein:increased activity:erythrocyte 2801 Hmbs hydroxymethylbilane synthase gene DOID:11054 urinary bladder cancer ISO RGD:733095 D RGD:2301681|PMID:16600798 20081028 RGD urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:13603 obstructive jaundice EXP D RGD:4144803|PMID:3963818 20200518 RGD Protein:increased activity:liver (rat) 2801 Hmbs hydroxymethylbilane synthase gene DOID:2030 anxiety disorder ISO RGD:733095 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 2801 Hmbs hydroxymethylbilane synthase gene DOID:2741 bilirubin metabolic disorder IEP D RGD:4144803|PMID:3963818 20101014 RGD protein:increased activity:liver (rat) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3133 acute porphyria ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6132132|PMID:8772850 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:19165346|PMID:24997713 20200218 RGD DNA:mutations:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:19165351|PMID:19656452 20200218 RGD DNA:mutations:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:19165352|PMID:19656453 20200218 RGD DNA:SNPs, haplotype:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:19165358|PMID:8270256 20200218 RGD DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079449|PMID:19664584 20200218 RGD DNA:mutations:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079450|PMID:25870942 20200218 RGD DNA:missense mutation:cd: p.A330P (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079451|PMID:10667475 20200218 RGD DNA:transversion:intron:IVS11-3C>G (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079453|PMID:19138865 20200218 RGD DNA:missense mutation:cds: p.V215M (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079454|PMID:14757946 20200218 RGD DNA:SNPs, deletion, haplotype:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079455|PMID:15469427 20200218 RGD DNA:deletion:exon 12:669-698del (p.E223_L232del) (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079457|PMID:9455613 20200218 RGD DNA:missense mutation:exon 10: p.R173W (173C>T) (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079458|PMID:10453740 20200218 RGD DNA:mutations:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:21079461|PMID:30385147 20200218 RGD DNA:mutations:multiple 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:4144787|PMID:9860299 19990101 RGD DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:7240710 20130221 OMIM 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:10408772|PMID:10453740|PMID:10494093|PMID:10502788|PMID:10782018|PMID:10944860|PMID:11055586|PMID:11399210|PMID:11831862|PMID:11857754|PMID:12357456|PMID:12372055|PMID:12566739|PMID:12773194|PMID:1301948|PMID:1427766|PMID:1496994|PMID:14970743|PMID:15003823|PMID:15469427|PMID:15534187|PMID:15643298|PMID:1577472|PMID:16025832|PMID:16199547|PMID:16211556|PMID:16817012|PMID:1714233|PMID:17298217|PMID:17576681|PMID:18414213|PMID:18627369|PMID:19138865|PMID:19267997|PMID:19292878|PMID:19401933|PMID:19460837|PMID:1961762|PMID:19656452|PMID:19656453|PMID:19694018|PMID:2025226|PMID:20301372|PMID:20978940|PMID:2227955|PMID:2243128|PMID:23815679|PMID:24997713|PMID:25016127|PMID:25118551|PMID:25637381|PMID:25741868|PMID:26075277|PMID:26095755|PMID:26582343|PMID:27507172|PMID:27539938|PMID:27558376|PMID:27849156|PMID:27884173|PMID:2789372|PMID:28492532|PMID:2864531|PMID:29360981|PMID:30740734|PMID:31044425|PMID:31073229|PMID:32581362|PMID:33445488|PMID:34089223|PMID:6985467|PMID:7635464|PMID:7757070|PMID:7962538|PMID:8081367|PMID:8096492|PMID:8168829|PMID:8262514|PMID:8262523|PMID:8268934|PMID:8270254|PMID:8270256|PMID:8401516|PMID:8565205|PMID:9067752|PMID:9199558|PMID:9225970|PMID:9238757|PMID:9281416|PMID:9350165|PMID:9463797|PMID:9536098|PMID:9702975 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733096 D RGD:21079459|PMID:26071363 20200218 RGD 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733096 D RGD:4145271|PMID:8563760 20101027 RGD 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria severity ISO RGD:733096 D RGD:21079460|PMID:30615115 20200218 RGD DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria susceptibility ISO RGD:733095 D RGD:19165353|PMID:9523350 20200218 RGD DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:21079452|PMID:28990424 20200218 RGD human gene in a mouse model 2801 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:21079456|PMID:30297912 20200218 RGD human mRNA in a mouse model 2801 Hmbs hydroxymethylbilane synthase gene DOID:4440 seminoma ISO RGD:733095 D RGD:2301683|PMID:15823405 20081028 RGD mRNA:increased expression:tumor (human) 2801 Hmbs hydroxymethylbilane synthase gene DOID:5212 congenital disorder of glycosylation ISO RGD:733095 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18414213|PMID:25741868|PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:5419 schizophrenia ISO RGD:733095 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2801 Hmbs hydroxymethylbilane synthase gene DOID:630 genetic disease ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26795593|PMID:28492532 2801 Hmbs hydroxymethylbilane synthase gene DOID:686 liver carcinoma sexual_dimorphism IEP D RGD:25440495|PMID:1781034 20200518 RGD Protein:increased activity:liver (rat) 2801 Hmbs hydroxymethylbilane synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733095 D RGD:2301684|PMID:2809566 20081028 RGD associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes 2801 Hmbs hydroxymethylbilane synthase gene DOID:9002558 Acute Intermittent Porphyria, Nonerythroid Variant ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant PMID:10343207|PMID:11071386|PMID:12406973|PMID:16199547|PMID:2511016|PMID:2563167|PMID:25923088|PMID:27539938|PMID:28492532|PMID:2915972|PMID:7757070|PMID:7962538|PMID:9199558|PMID:9860299 2801 Hmbs hydroxymethylbilane synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733095 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2801 Hmbs hydroxymethylbilane synthase gene DOID:9005584 Hepatic Porphyrias IEP D RGD:4144806|PMID:6721832 20101014 RGD protein:increased activity:liver (rat) 2801 Hmbs hydroxymethylbilane synthase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4144808|PMID:6688350 20101015 RGD protein:decreased activity:liver (rat) 2801 Hmbs hydroxymethylbilane synthase gene DOID:9005734 Abdominal Pain ISO RGD:733095 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Abdominal pain 2801 Hmbs hydroxymethylbilane synthase gene DOID:9006618 Liver Metastasis IEP D RGD:25440496|PMID:1386052 20200518 RGD associated with colon adenocarcinoma;protein:decreased activity:liver(rat) 2801 Hmbs hydroxymethylbilane synthase gene DOID:9007661 Dwarfism ISO RGD:733095 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2801 Hmbs hydroxymethylbilane synthase gene DOID:9008385 Vomiting ISO RGD:733095 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Vomiting PMID:25741868 2802 Hmgb1 high mobility group box 1 gene DOID:10652 Alzheimer's disease ISO RGD:10711 D RGD:10402058|PMID:23905994 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:10763 hypertension ISO RGD:1605729 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 2802 Hmgb1 high mobility group box 1 gene DOID:10825 essential hypertension ISO RGD:1605729 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 2802 Hmgb1 high mobility group box 1 gene DOID:10908 hydrocephalus IEP D RGD:10402405|PMID:22116431 20151023 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:11446 sciatic neuropathy treatment IMP D RGD:10402062|PMID:23991202 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:12986 leukostasis ISO RGD:1605729 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28294475 2802 Hmgb1 high mobility group box 1 gene DOID:13378 Kawasaki disease ISO RGD:1605729 D RGD:8695977|PMID:18720262 20140807 RGD protein:increased expression:serum 2802 Hmgb1 high mobility group box 1 gene DOID:13603 obstructive jaundice IEP D RGD:10402168|PMID:21737101 20151019 RGD protein:increased expression:liver, plasma 2802 Hmgb1 high mobility group box 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605729 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 2802 Hmgb1 high mobility group box 1 gene DOID:1936 atherosclerosis treatment IEP D RGD:10402182|PMID:20519084 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:224 transient cerebral ischemia ISO RGD:10711 D RGD:8696004|PMID:23288172 20140808 RGD protein:increased expression:brain, plasma 2802 Hmgb1 high mobility group box 1 gene DOID:234 colon adenocarcinoma IEP D RGD:10402080|PMID:20616616 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:3070 high grade glioma treatment IMP D RGD:10402059|PMID:10830965 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605729 D RGD:10402056|PMID:23639787 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:3454 brain infarction IMP D RGD:2316741|PMID:19944723 20230213 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:9681449|PMID:23480850 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:3526 cerebral infarction ISO RGD:1605729 D RGD:8696004|PMID:23288172 20140808 RGD protein:increased expression:plasma 2802 Hmgb1 high mobility group box 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605729 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2802 Hmgb1 high mobility group box 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1605729 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27616297 2802 Hmgb1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:10711|RGD:1605729 D RGD:8695973|PMID:18825489 20140807 RGD protein:increased expression:serum 2802 Hmgb1 high mobility group box 1 gene DOID:5844 myocardial infarction ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 2802 Hmgb1 high mobility group box 1 gene DOID:5844 myocardial infarction treatment IDA D RGD:10402174|PMID:23188125 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:6000 congestive heart failure ISO RGD:1605729 D RGD:10402070|PMID:23708738 20151015 RGD protein:decreased expression:heart 2802 Hmgb1 high mobility group box 1 gene DOID:6000 congestive heart failure treatment IMP D RGD:10402081|PMID:24204700 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:630 genetic disease ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2802 Hmgb1 high mobility group box 1 gene DOID:6432 pulmonary hypertension treatment IMP D RGD:10402082|PMID:25032709 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:824 periodontitis IEP D RGD:10402172|PMID:24692854 20151019 RGD protein:increased expression:gingiva 2802 Hmgb1 high mobility group box 1 gene DOID:8398 osteoarthritis ISO RGD:10711 D RGD:10401949|PMID:22330250 20151013 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2325645|PMID:20195207 20151014 RGD mRNA:increased expression:spinal cord 2802 Hmgb1 high mobility group box 1 gene DOID:9000081 Lymphatic Metastasis IEP D RGD:10402080|PMID:20616616 20151015 RGD associated with Adenocarcinoma, Colon 2802 Hmgb1 high mobility group box 1 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment IMP D RGD:10402084|PMID:23591781 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9000945 Ventilator-Induced Lung Injury treatment IMP D RGD:10402091|PMID:24058610 20151015 RGD associated with Endotoxemia 2802 Hmgb1 high mobility group box 1 gene DOID:9000972 Fever ISO RGD:1605729 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 2802 Hmgb1 high mobility group box 1 gene DOID:9000998 Brain Injuries treatment IMP D RGD:7245513|PMID:22915134 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9001725 Retina Reperfusion Injury IDA D RGD:10402064|PMID:21999229 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9002153 Chronic Allograft Dysfunction treatment IEP D RGD:7245568|PMID:22217518 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10402078|PMID:21431875 20151015 RGD mRNA, protein:increased expression, altered localization:serum, hepatocyte, cytoplasm 2802 Hmgb1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10402175|PMID:22514737 20151019 RGD protein:increased oxidation:liver 2802 Hmgb1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:10402068|PMID:24578610 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9002211 Hyperalgesia ISO RGD:1605729 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 2802 Hmgb1 high mobility group box 1 gene DOID:9002211 Hyperalgesia treatment IEP D RGD:7364865|PMID:24077211 20140808 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13838658|PMID:30142543 20190108 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:8696002|PMID:24599045 20140808 RGD protein:increased expression:heart, serum 2802 Hmgb1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605729 D RGD:10402184|PMID:19139395 20151019 RGD mRNA:decreased expression:articular cartilage 2802 Hmgb1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1605729 D RGD:10402061|PMID:21968272 20151014 RGD protein:increased expression:synovial fluid 2802 Hmgb1 high mobility group box 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:728698|PMID:12384917 20151013 RGD protein:altered localization:cytoplasm, extracellular matrix 2802 Hmgb1 high mobility group box 1 gene DOID:9002644 Premature Aging ISO RGD:10711 D RGD:10043099|PMID:21828285 20151013 RGD protein:increased expression:adipose tissue 2802 Hmgb1 high mobility group box 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:1605729 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 2802 Hmgb1 high mobility group box 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:10711 D RGD:10402057|PMID:24371837 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9003199 Systemic Vasculitis ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146691 2802 Hmgb1 high mobility group box 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1605729 D RGD:10402070|PMID:23708738 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9004009 Reperfusion Injury treatment IMP D RGD:10402071|PMID:22392147 20151015 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9004484 Sepsis ISO RGD:1605729 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:19265175|PMID:23146691 2802 Hmgb1 high mobility group box 1 gene DOID:9004484 Sepsis treatment IMP D RGD:10402067|PMID:19623040 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:10711 D RGD:10402173|PMID:20936717 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:10402098|PMID:23874764 20151015 RGD associated with Burns 2802 Hmgb1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:34901874|PMID:30465396 20200707 RGD associated with Crush Injuries 2802 Hmgb1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:4892587|PMID:19766246 20151015 RGD associated with Endotoxemia 2802 Hmgb1 high mobility group box 1 gene DOID:9004649 Heat Stroke treatment IEP D RGD:10402179|PMID:20047080 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9004974 Painful Neuropathy ISO RGD:1605729 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 2802 Hmgb1 high mobility group box 1 gene DOID:9005372 Inflammation ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21617575|PMID:22178603|PMID:22386814|PMID:22429818|PMID:23146691 2802 Hmgb1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10402069|PMID:23261684 20151015 RGD protein:increased expression, altered localization:retina, cytoplasm 2802 Hmgb1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316737|PMID:19959191 20151014 RGD associated with Endotoxemia;protein:increased expression:serum 2802 Hmgb1 high mobility group box 1 gene DOID:9005749 Necrosis ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:22178603 2802 Hmgb1 high mobility group box 1 gene DOID:9005930 Endotoxemia IEP D RGD:10402065|PMID:18503231 20151014 RGD protein:increased expression:heart, serum 2802 Hmgb1 high mobility group box 1 gene DOID:9005968 Neuralgia ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 2802 Hmgb1 high mobility group box 1 gene DOID:9006444 Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia PMID:20661588 2802 Hmgb1 high mobility group box 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605729 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 2802 Hmgb1 high mobility group box 1 gene DOID:9006827 Lung Reperfusion Injury IEP D RGD:10402095|PMID:22115333 20151015 RGD protein:increased expression:lung 2802 Hmgb1 high mobility group box 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2802 Hmgb1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 2802 Hmgb1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment IMP D RGD:10402063|PMID:23706497 20151014 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9007730 Burns treatment IEP D RGD:10402183|PMID:20723408 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:10402181|PMID:22093738 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1605729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 2802 Hmgb1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:10402170|PMID:19540007 20151019 RGD 2802 Hmgb1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:10402066|PMID:23531454 20151014 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0050452 mevalonic aciduria ISO RGD:731579 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:5508448|PMID:21360500 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:altered expression:liver (rat) 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:5508690|PMID:19913842 20111019 RGD mRNA:decreased expression:liver 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 non-alcoholic fatty liver disease disease_progression IEP D RGD:15045604|PMID:23117815 20191218 RGD mRNA:decreased expression:liver (rat) 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10652 Alzheimer's disease ISO RGD:731579 D RGD:5508460|PMID:17724290 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10787 premature menopause IEP D RGD:19165129|PMID:24619822 20200131 RGD mRNA:decreased expression:liver (rat) 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:11100 Q fever ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:12858 Huntington's disease ISO RGD:731580 D RGD:5508462|PMID:17702587 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:1307 dementia ISO RGD:731579 D RGD:5508465|PMID:17640385 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:13141 uveitis ISO RGD:731580 D RGD:5508475|PMID:15699169 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:14330 Parkinson's disease ISO RGD:731579 D RGD:5508459|PMID:18184918 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2044 drug-induced hepatitis IDA D RGD:2316848|PMID:16140414 20111019 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2841 asthma ISO RGD:731579 D RGD:5508450|PMID:20084838 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3021 acute kidney failure ISO RGD:731580 D RGD:5508471|PMID:16557230 20111018 RGD associated with Sepsis 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3323 Sandhoff disease ISO RGD:731579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3393 coronary artery disease ISO RGD:731579 D RGD:5508477|PMID:12742282 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:417 autoimmune disease ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:630 genetic disease ISO RGD:731579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:6432 pulmonary hypertension IMP D RGD:5508701|PMID:12750068 20111019 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:684 hepatocellular carcinoma ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207284|PMID:21147110 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease IMP D RGD:5508686|PMID:21119529 20111019 RGD associated with Hypertension 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:784 chronic kidney disease IEP D RGD:1300058|PMID:12841361 20210514 RGD mRNA, protein:increased expression:liver 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:8805 intermediate coronary syndrome ISO RGD:731579 D RGD:5508458|PMID:18333374 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:893 Wilson disease IDA D RGD:2292672|PMID:17303181 20111019 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000528 Coronary Disease disease_progression ISO RGD:731579 D RGD:5508474|PMID:15809366 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia IDA D RGD:5508696|PMID:17250646 20111019 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia IEP D RGD:19165129|PMID:24619822 20200131 RGD mRNA:decreased expression:liver (rat) 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8593127 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:5508480|PMID:1611649 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731580 D RGD:13782271|PMID:25168180 20180831 RGD mRNA:increased expression:liver 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000998 Brain Injuries IMP D RGD:5508455|PMID:18562561 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002457 Experimental Arthritis ISO RGD:731580 D RGD:5508468|PMID:17119970 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5508476|PMID:14691063 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731580 D RGD:5508469|PMID:17085013 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury IMP D RGD:2315888|PMID:18398369 20111018 RGD associated with Diabetes Mellitus, Experimental 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury IMP D RGD:5508445|PMID:21724106 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:731580 D RGD:5508473|PMID:16009498 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731579 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004610 Acute Lung Injury ISO RGD:731580 D RGD:5508470|PMID:16922808 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005036 Bacteremia severity ISO RGD:731579 D RGD:5508478|PMID:11565076 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731579 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2313760|PMID:15111316 20091014 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006113 Gallstones ISO RGD:731579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7461467 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006646 Metabolic Syndrome IMP D RGD:5508692|PMID:19461650 20111019 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression IMP D RGD:5508466|PMID:17286627 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke IMP D RGD:5508472|PMID:16316970 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:731579 D RGD:5508472|PMID:16316970 20111018 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9009046 Surgical Wound Dehiscence IMP D RGD:5508683|PMID:19578821 20111019 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9351 diabetes mellitus ISO RGD:731579 D RGD:2313755|PMID:15476492 20091014 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus IMP D RGD:2313759|PMID:15312879 20091014 RGD 2803 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731579 D RGD:2313753|PMID:17870053 20091014 RGD DNA:polymorphism (human) 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:737571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:7240710 20130221 OMIM 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY PMID:11228257|PMID:11479731|PMID:12072887|PMID:12647205|PMID:16199547|PMID:17576681|PMID:20346956|PMID:23751782|PMID:25511235|PMID:25741868|PMID:28492532|PMID:29597274|PMID:30477625|PMID:31910233|PMID:32259399|PMID:32952630|PMID:33045405|PMID:9337379|PMID:9536098|PMID:9727719 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:13619 extrahepatic cholestasis IEP D RGD:2326121|PMID:12399220 20100624 RGD mRNA, protein:decreased expression:liver, mitochondrion (rat) 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:6000 congestive heart failure ISO RGD:737571 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:630 genetic disease ISO RGD:737571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737571 D RGD:14975299|PMID:28867541 20191007 RGD 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002801 Recurrence ISO RGD:737571 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737571 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:27816970 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737571 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005369 Hepatomegaly IEP D RGD:2326126|PMID:10892723 20100624 RGD protein:increased expression:liver (rat) 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2326135|PMID:7902069 20100625 RGD protein:increased expression:liver (rat) 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2804 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:737571 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:0080600 COVID-19 ISO RGD:737426 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:737426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:1612 breast cancer ISO RGD:737426 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:25741868 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:1612 breast cancer susceptibility ISO RGD:737426 D RGD:7240710 20230505 OMIM 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:2394 ovarian cancer ISO RGD:737426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:630 genetic disease ISO RGD:737426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737426 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:8552 chronic myeloid leukemia ISO RGD:737426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17922014 2805 Hmmr hyaluronan-mediated motility receptor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737426 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 2806 Hmox1 heme oxygenase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 2806 Hmox1 heme oxygenase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730901 D RGD:4145404|PMID:17511582 20101103 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:0050852 limb ischemia IDA D RGD:1598394|PMID:12593860 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 2806 Hmox1 heme oxygenase 1 gene DOID:0060180 colitis IEP D RGD:7207796|PMID:22261574 20130206 RGD protein:increased expression:colon: 2806 Hmox1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16365149|PMID:21444764 2806 Hmox1 heme oxygenase 1 gene DOID:0060180 colitis treatment IEP D RGD:10766442|PMID:21853095 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:10717 D RGD:1598405|PMID:15242554 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19168058 2806 Hmox1 heme oxygenase 1 gene DOID:0080177 hepatic veno-occlusive disease IDA D RGD:4145318|PMID:19387321 20101029 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:0080855 Parkinsonism treatment IEP D RGD:10755712|PMID:24169105 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10322 berylliosis ISO RGD:730901 D RGD:4145349|PMID:19453654 20101101 RGD protein:increased activity:sputum 2806 Hmox1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:730901|RGD:10717 D RGD:4145384|PMID:16858012 20101102 RGD protein:increased expression:serum, lung 2806 Hmox1 heme oxygenase 1 gene DOID:10533 viral pneumonia ISO RGD:10717 D RGD:4145417|PMID:8843786 20101103 RGD mRNA:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 2806 Hmox1 heme oxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197494 2806 Hmox1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11144356 2806 Hmox1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:1358658|PMID:7778849 19990101 RGD protein:increased expression:hippocampus, temporal cortex (human) 2806 Hmox1 heme oxygenase 1 gene DOID:1073 renal hypertension IDA D RGD:1582711|PMID:16316349 20061118 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10762 portal hypertension IDA D RGD:1582701|PMID:16830363 20061117 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension IDA D RGD:1580453|PMID:12215473 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16959961|PMID:22349312|PMID:22352330 2806 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension susceptibility ISO RGD:730901 D RGD:1598400|PMID:12872043 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension treatment ISO RGD:730901 D RGD:10755717|PMID:20836698 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:730901|RGD:10717 D RGD:10755563|PMID:11238038 20160201 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:10923 sickle cell anemia treatment IMP D RGD:10755565|PMID:20306336 20160201 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730901 D RGD:10755701|PMID:20013271 20160203 RGD protein:increased expression:serum 2806 Hmox1 heme oxygenase 1 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:730901 D RGD:4145346|PMID:19526221 20101101 RGD DNA:polymorphism:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:11446 sciatic neuropathy treatment IDA D RGD:10755722|PMID:23224421 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16959961 2806 Hmox1 heme oxygenase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21253390 2806 Hmox1 heme oxygenase 1 gene DOID:11914 gastroparesis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20378827 2806 Hmox1 heme oxygenase 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:730901 D RGD:10755564|PMID:23716558 20160201 RGD DNA:repeat:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:12236 primary biliary cholangitis IEP D RGD:625603|PMID:12114196 20160202 RGD mRNA, protein:increased expression:liver, lung 2806 Hmox1 heme oxygenase 1 gene DOID:12337 varicocele severity ISO RGD:730901 D RGD:1598403|PMID:15878918 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:12365 malaria ISS RGD:10717 D RGD:13592920 20180518 MouseDO OMIM:609148 | OMIM:611162 2806 Hmox1 heme oxygenase 1 gene DOID:1247 blood coagulation disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 2806 Hmox1 heme oxygenase 1 gene DOID:12510 retinal ischemia treatment IEP D RGD:10755711|PMID:23537149 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:730901 D RGD:4145353|PMID:18301921 20101101 RGD mRNA:increased expression:blood cells 2806 Hmox1 heme oxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 2806 Hmox1 heme oxygenase 1 gene DOID:12894 Sjogren's syndrome treatment IEP D RGD:10450595|PMID:24941846 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm IMP D RGD:4145300|PMID:19686725 20101029 RGD associated with Subarachnoid Hemorrhage 2806 Hmox1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:730901 D RGD:1598406|PMID:14657544 20061127 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm treatment ISO RGD:730901 D RGD:10755572|PMID:21654696 20160202 RGD associated with Subarachnoid Hemorrhage 2806 Hmox1 heme oxygenase 1 gene DOID:13241 Behcet's disease ISO RGD:730901 D RGD:7777175|PMID:18234118 20140107 RGD mRNA:decreased expression:mononulcear cell: 2806 Hmox1 heme oxygenase 1 gene DOID:13378 Kawasaki disease no_association ISO RGD:730901 D RGD:1598409|PMID:14521259 20061127 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730901 D RGD:4145349|PMID:19453654 20101101 RGD protein:increased activity:sputum 2806 Hmox1 heme oxygenase 1 gene DOID:13413 hepatic encephalopathy treatment IEP D RGD:10766445|PMID:23670786 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:14115 toxic shock syndrome IDA D RGD:4145362|PMID:18208666 20101102 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:14330 Parkinson's disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 2806 Hmox1 heme oxygenase 1 gene DOID:1485 cystic fibrosis ISO RGD:730901 D RGD:4145410|PMID:15184199 20101103 RGD mRNA:protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:1584 acute chest syndrome ISO RGD:730901 D RGD:10755560|PMID:22966170 20160201 RGD associated with Anemia, Sickle Cell;DNA:repeat:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:1673 pneumothorax ISO RGD:730901 D RGD:4145332|PMID:20526373 20101101 RGD protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:1824 status epilepticus IEP D RGD:4145131|PMID:20971094 20101026 RGD protein:increased expression:cerebral cortex (rat) 2806 Hmox1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 2806 Hmox1 heme oxygenase 1 gene DOID:2018 hyperinsulinism ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19171794 2806 Hmox1 heme oxygenase 1 gene DOID:2237 hepatitis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14512878 2806 Hmox1 heme oxygenase 1 gene DOID:2316 brain ischemia IEP D RGD:1582709|PMID:16464361 20061118 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:2316 brain ischemia IMP D RGD:10755576|PMID:21276833 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:2349 arteriosclerosis ISO RGD:10717 D RGD:1598395|PMID:12958201 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:2351 iron metabolism disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 2806 Hmox1 heme oxygenase 1 gene DOID:2352 hemochromatosis ISS RGD:10717 D RGD:13592920 20180518 MouseDO OMIM:231100 2806 Hmox1 heme oxygenase 1 gene DOID:26 pancreas disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18784349 2806 Hmox1 heme oxygenase 1 gene DOID:2773 contact dermatitis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2806 Hmox1 heme oxygenase 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:10717 D RGD:4145412|PMID:12973103 20101103 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:10717 D RGD:4145403|PMID:20596599 20101103 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 2806 Hmox1 heme oxygenase 1 gene DOID:2841 asthma severity ISO RGD:730901 D RGD:4145408|PMID:16196283 20101103 RGD mRNA;protein:increased expression:Leukocytes, Mononuclear 2806 Hmox1 heme oxygenase 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:730901 D RGD:1601607|PMID:15688187 20070425 RGD Lung Adenocarcinoma 2806 Hmox1 heme oxygenase 1 gene DOID:3021 acute kidney failure ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21048024 2806 Hmox1 heme oxygenase 1 gene DOID:3021 acute kidney failure treatment IMP D RGD:10755583|PMID:23807243 20160202 RGD associated with Sepsis 2806 Hmox1 heme oxygenase 1 gene DOID:3082 interstitial lung disease ISO RGD:730901 D RGD:4145416|PMID:11727267 20101103 RGD Idiopathic Interstitial Pneumonias;protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730901 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2806 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730901 D RGD:4145371|PMID:17254481 20101102 RGD DNA:polymorphism:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730901 D RGD:4145372|PMID:17203192 20101102 RGD DNA:polymorphism:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730901 D RGD:7240710 20230505 OMIM 2806 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:10755705|PMID:20705587 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:326 ischemia ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15036356|PMID:19667931 2806 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12136229 2806 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:1580454|PMID:12377749 19990101 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease no_association ISO RGD:730901 D RGD:1580470|PMID:14691581 20070425 RGD DNA:repeat:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730901 D RGD:1598401|PMID:12136229 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:3407 carotid artery disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 2806 Hmox1 heme oxygenase 1 gene DOID:3410 carotid artery thrombosis treatment ISO RGD:10717 D RGD:10755698|PMID:23590132 20160203 RGD associated with Anemia, Sickle Cell 2806 Hmox1 heme oxygenase 1 gene DOID:349 systemic mastocytosis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17420286 2806 Hmox1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10755755|PMID:23870531 20160204 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10755587|PMID:24252362 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:730901 D RGD:10755588|PMID:20888632 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:3526 cerebral infarction ISO RGD:10717 D RGD:10755574|PMID:23311871 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814490 2806 Hmox1 heme oxygenase 1 gene DOID:409 liver disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16964402|PMID:17002867|PMID:17275847 2806 Hmox1 heme oxygenase 1 gene DOID:4247 coronary restenosis ISO RGD:730901 D RGD:1580472|PMID:14529548 19990101 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:4247 coronary restenosis susceptibility ISO RGD:730901 D RGD:1598402|PMID:16020495 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:4724 brain edema IEP D RGD:10766444|PMID:23438812 20160205 RGD associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain 2806 Hmox1 heme oxygenase 1 gene DOID:5041 esophageal cancer IEP D RGD:4145286|PMID:20498946 20101028 RGD protein:increased expression:esophagus 2806 Hmox1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease IEP D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:730901 D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung, endothelial cell 2806 Hmox1 heme oxygenase 1 gene DOID:552 pneumonia ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16582079 2806 Hmox1 heme oxygenase 1 gene DOID:552 pneumonia susceptibility ISO RGD:730901 D RGD:1601608|PMID:16582079 20070425 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:5679 retinal disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 2806 Hmox1 heme oxygenase 1 gene DOID:583 hemolytic anemia ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 2806 Hmox1 heme oxygenase 1 gene DOID:5844 myocardial infarction IDA D RGD:4145134|PMID:20925964 20101026 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:5844 myocardial infarction IEP D RGD:1598393|PMID:12392996 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:6000 congestive heart failure ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 2806 Hmox1 heme oxygenase 1 gene DOID:6000 congestive heart failure treatment IMP D RGD:10755584|PMID:23592614 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:630 genetic disease ISO RGD:730901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2806 Hmox1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension IDA D RGD:4145307|PMID:19409105 20101029 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:1582715|PMID:14970910 20061118 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:10717|RGD:730901 D RGD:4145325|PMID:20957739 20101101 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:750 peptic ulcer disease IMP D RGD:4145283|PMID:20610858 20101028 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730901 D RGD:1580455|PMID:12182912 19990101 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:783 end stage renal disease ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22622455 2806 Hmox1 heme oxygenase 1 gene DOID:7998 hyperthyroidism treatment IEP D RGD:10755742|PMID:23623788 20160204 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:8440 ileus treatment IEP D RGD:10755726|PMID:22921918 20160203 RGD associated with Sepsis 2806 Hmox1 heme oxygenase 1 gene DOID:850 lung disease IDA D RGD:4145327|PMID:20638132 20101101 RGD acute lung injury 2806 Hmox1 heme oxygenase 1 gene DOID:850 lung disease IDA D RGD:4145350|PMID:19024100 20101101 RGD acute lung injury 2806 Hmox1 heme oxygenase 1 gene DOID:850 lung disease IEP D RGD:4140396|PMID:20663303 20101028 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:4143390|PMID:16309574 20100922 RGD Acute Lung Injury 2806 Hmox1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:4145370|PMID:17264168 20101102 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:10717 D RGD:10755566|PMID:22139798 20160201 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:8927 learning disability ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11718997 2806 Hmox1 heme oxygenase 1 gene DOID:900 hepatopulmonary syndrome IEP D RGD:10755724|PMID:21518603 20160203 RGD mRNA, protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:10766443|PMID:23943397 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:10717 D RGD:1598396|PMID:12958158 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14647439|PMID:22490514 2806 Hmox1 heme oxygenase 1 gene DOID:9000310 Lung Injury ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17365036 2806 Hmox1 heme oxygenase 1 gene DOID:9000352 Vascular System Injuries ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19234301 2806 Hmox1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:4145300|PMID:19686725 20101029 RGD mRNA:increased expression:subarachnoid space 2806 Hmox1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage IMP D RGD:1582702|PMID:16543643 20061117 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730901 D RGD:1598406|PMID:14657544 20061127 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000528 Coronary Disease ISO RGD:730901 D RGD:1598404|PMID:15869055 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000774 Brain Death IEP D RGD:10755728|PMID:23356498 20160203 RGD mRNA, protein:increased expression:kidney 2806 Hmox1 heme oxygenase 1 gene DOID:9000774 Brain Death treatment IMP D RGD:10766439|PMID:20819234 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000784 Fibrosis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18784349 2806 Hmox1 heme oxygenase 1 gene DOID:9000855 Experimental Radiation Injuries treatment IMP D RGD:10755582|PMID:22247972 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000884 Rhabdomyolysis treatment IEP D RGD:10766438|PMID:21726176 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9000972 Fever IEP D RGD:1304397|PMID:12834255 20120322 RGD protein:increased expression:glial cell 2806 Hmox1 heme oxygenase 1 gene DOID:9000998 Brain Injuries IEP D RGD:10755702|PMID:23470432 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001390 Testis Reperfusion Injury treatment IMP D RGD:10755740|PMID:23142244 20160204 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis IDA D RGD:4145305|PMID:19554654 20101029 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16025519|PMID:16610050|PMID:21163135|PMID:25380136 2806 Hmox1 heme oxygenase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12649161 2806 Hmox1 heme oxygenase 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:10717 D RGD:10755562|PMID:11135063 20160201 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001627 Pathologic Constriction IDA D RGD:4145296|PMID:20022212 20101029 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001650 Pregnancy-Induced Hypertension treatment IEP D RGD:10755723|PMID:21383306 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock IMP D RGD:10755719|PMID:20514418 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock severity IEP D RGD:10755727|PMID:20819606 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:4145289|PMID:20357190 20101029 RGD associated with Glaucoma 2806 Hmox1 heme oxygenase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10717 D RGD:4145366|PMID:17348295 20101102 RGD associated with influenza;protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10755725|PMID:20446775 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10755581|PMID:21849637 20160202 RGD associated with Diabetes Mellitus, Experimental 2806 Hmox1 heme oxygenase 1 gene DOID:9002221 Hyperplasia ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19234301 2806 Hmox1 heme oxygenase 1 gene DOID:9002254 Dilatation, Pathologic IDA D RGD:1580452|PMID:15057912 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25246272 2806 Hmox1 heme oxygenase 1 gene DOID:9002473 Blast Crisis ISO RGD:730901 D RGD:10755566|PMID:22139798 20160201 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9002514 Neointima treatment IMP D RGD:10755571|PMID:21804207 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9002532 Neonatal Hyperbilirubinemia IMP D RGD:4145302|PMID:19646271 20101029 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12401953 2806 Hmox1 heme oxygenase 1 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:10717 D RGD:1598395|PMID:12958201 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9003420 Carbon Monoxide Poisoning IDA D RGD:4145306|PMID:19520142 20101029 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9003420 Carbon Monoxide Poisoning IEP D RGD:4145288|PMID:20422170 20101028 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9003603 Hemolysis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 2806 Hmox1 heme oxygenase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730901 D RGD:4145406|PMID:16540907 20101103 RGD mRNA, protein:increased expression: nasal mucosa 2806 Hmox1 heme oxygenase 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:10766440|PMID:25447631 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9003936 Cardiomegaly ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15226216 2806 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury IDA D RGD:1582708|PMID:16699460 20061118 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4145338|PMID:19885035 20101101 RGD protein:increased expression:serum, Bronchoalveolar Lavage Fluid 2806 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:4145514|PMID:12919086 20101108 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12352873|PMID:16982915|PMID:17660127|PMID:17906103|PMID:23075401|PMID:25780291 2806 Hmox1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment IEP D RGD:10755753|PMID:23475767 20160204 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24211270 2806 Hmox1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury IMP D RGD:4145326|PMID:20850789 20101101 RGD associated with Reperfusion Injury 2806 Hmox1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:4140418|PMID:20360627 20160204 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning IEP D RGD:10755718|PMID:24748974 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15688187|PMID:18508827 2806 Hmox1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16319139 2806 Hmox1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10755708|PMID:23215791 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9005372 Inflammation ISO RGD:730901 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:12649161|PMID:16982915|PMID:23451061|PMID:29086419 2806 Hmox1 heme oxygenase 1 gene DOID:9005526 Pulmonary Edema of Mountaineers IEP D RGD:10755745|PMID:21296072 20160204 RGD protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1582713|PMID:15734859 20061118 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16123366|PMID:16959961|PMID:18375438|PMID:19804535 2806 Hmox1 heme oxygenase 1 gene DOID:9005785 Altitude Sickness IEP D RGD:10755714|PMID:23537263 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9005930 Endotoxemia treatment IEP D RGD:10755715|PMID:21396999 20160203 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10717 D RGD:1598397|PMID:12230867 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:730901 D RGD:1598408|PMID:14587309 20061127 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:10755580|PMID:21291499 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9006257 Growth Disorders ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 2806 Hmox1 heme oxygenase 1 gene DOID:9006646 Metabolic Syndrome treatment IEP D RGD:10763276|PMID:22193921 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18227147 2806 Hmox1 heme oxygenase 1 gene DOID:9006827 Lung Reperfusion Injury IEP D RGD:10755577|PMID:21227458 20160202 RGD protein:increased expression:lung 2806 Hmox1 heme oxygenase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:10412713|PMID:23453443 20160204 RGD associated with Diabetes Mellitus, Experimental 2806 Hmox1 heme oxygenase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:9586347|PMID:23853776 20160203 RGD associated with Diabetes Mellitus, Experimental 2806 Hmox1 heme oxygenase 1 gene DOID:9007096 Stroke ISO RGD:730901 D RGD:1598410|PMID:14753445 20061127 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia IEP D RGD:1582713|PMID:15734859 20061118 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2806 Hmox1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:730901 D RGD:1598399|PMID:15064108 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730901 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:17002867 2806 Hmox1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18227147|PMID:22688006 2806 Hmox1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:10762620|PMID:22886620 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18375438|PMID:19171794 2806 Hmox1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:1601621|PMID:12941774 20070426 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:10766423|PMID:19362701 20160205 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1598392|PMID:12709584 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:10755573|PMID:22179023 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730901 D RGD:10755585|PMID:23921302 20160202 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9008114 Helicobacter Infections ISO RGD:730901 D RGD:1598398|PMID:16100019 20061126 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9008173 Paraparesis treatment IEP D RGD:10766441|PMID:23068093 20160205 RGD associated with Lathyrism 2806 Hmox1 heme oxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 2806 Hmox1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency ISO RGD:730901 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2806 Hmox1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency ISO RGD:730901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heme oxygenase 1 deficiency PMID:21088618|PMID:22023467|PMID:25741868|PMID:26526137|PMID:27662012|PMID:28492532|PMID:32587840|PMID:33066778|PMID:9884342 2806 Hmox1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency susceptibility ISO RGD:730901 D RGD:7240710 20230505 OMIM 2806 Hmox1 heme oxygenase 1 gene DOID:9119 acute myeloid leukemia IEP D RGD:10755700|PMID:19268504 20160203 RGD mRNA:increased expression:brain, spleen 2806 Hmox1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 2806 Hmox1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:730901 D RGD:42724459|PMID:23729024 20210309 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:10755699|PMID:17991645 20160203 RGD DNA:repeat:promoter 2806 Hmox1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12136229|PMID:16123366|PMID:16959961 2806 Hmox1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:8695927|PMID:23731386 20160204 RGD associated with Obesity 2806 Hmox1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631150 2806 Hmox1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:730901 D RGD:1601606|PMID:10631150 20070425 RGD 2806 Hmox1 heme oxygenase 1 gene DOID:9970 obesity ISO RGD:730901 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18334666|PMID:18375438|PMID:19171794 2807 Foxa1 forkhead box A1 gene DOID:0060108 brain glioma disease_progression ISO RGD:1605727 D RGD:151665742|PMID:23510544 20220330 RGD 2807 Foxa1 forkhead box A1 gene DOID:10534 stomach cancer ISO RGD:1605727 D RGD:151665756|PMID:29129808 20220331 RGD protein:decreased expression:stomach 2807 Foxa1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1605727 D RGD:151665744|PMID:31046116 20220330 RGD 2807 Foxa1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1605727 D RGD:151665756|PMID:29129808 20220331 RGD 2807 Foxa1 forkhead box A1 gene DOID:1324 lung cancer disease_progression ISO RGD:1605727 D RGD:151665930|PMID:31221478 20220406 RGD 2807 Foxa1 forkhead box A1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:1605727 D RGD:151665748|PMID:33296605 20220330 RGD 2807 Foxa1 forkhead box A1 gene DOID:1612 breast cancer disease_progression ISO RGD:1605727 D RGD:151665821|PMID:27524420 20220405 RGD 2807 Foxa1 forkhead box A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1605727 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 2807 Foxa1 forkhead box A1 gene DOID:234 colon adenocarcinoma ISO RGD:1605727 D RGD:151665753|PMID:32839292 20220331 RGD mRNA:decreased expression:colon 2807 Foxa1 forkhead box A1 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 2807 Foxa1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:151665743|PMID:27050876 20220330 RGD DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) 2807 Foxa1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:151665759|PMID:29788741 20220331 RGD 2807 Foxa1 forkhead box A1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:1605727 D RGD:151665930|PMID:31221478 20220406 RGD 2807 Foxa1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 2807 Foxa1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:151665747|PMID:26909612 20220330 RGD mRNA:increased expression:lung 2807 Foxa1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605727 D RGD:11554787|PMID:26658322 20220406 RGD 2807 Foxa1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 2807 Foxa1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:151665758|PMID:12234996 20220331 RGD mRNA:increased expression:lung 2807 Foxa1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:151665822|PMID:29072684 20220405 RGD mRNA:increased expression:lung 2807 Foxa1 forkhead box A1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1605727 D RGD:151665758|PMID:12234996 20220331 RGD protein:increased expression:esophagus 2807 Foxa1 forkhead box A1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605727 D RGD:151665760|PMID:22383183 20220331 RGD 2807 Foxa1 forkhead box A1 gene DOID:630 genetic disease ISO RGD:1605727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2807 Foxa1 forkhead box A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605727 D RGD:11054501|PMID:25965836 20220331 RGD 2807 Foxa1 forkhead box A1 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1605727 D RGD:9068941 20220407 RGD protein:decreased expression:liver PMID:29208003|REF_RGD_ID:151665820 2807 Foxa1 forkhead box A1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605727 D RGD:151665752|PMID:31400761 20220331 RGD DNA:VNTR, SNPs, haplotypes:multiple: 2807 Foxa1 forkhead box A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605727 D RGD:151665751|PMID:29115441 20220331 RGD associated with lung non-small cell carcinoma; mRNA:increased expression: : 2807 Foxa1 forkhead box A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605727 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:26457646|PMID:29295717|PMID:29610475|PMID:32690948 2807 Foxa1 forkhead box A1 gene DOID:9004610 Acute Lung Injury IEP D RGD:151665511|PMID:19649697 20220328 RGD mRNA,protein:increased expression:lung 2807 Foxa1 forkhead box A1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1605727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 2807 Foxa1 forkhead box A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605727 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 2807 Foxa1 forkhead box A1 gene DOID:9008138 Ductal Carcinoma ISO RGD:1605727 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 2807 Foxa1 forkhead box A1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23001124 2807 Foxa1 forkhead box A1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605727 D RGD:151665746|PMID:31081047 20220330 RGD 2807 Foxa1 forkhead box A1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605727 D RGD:151665754|PMID:27484093 20220331 RGD 2807 Foxa1 forkhead box A1 gene DOID:9452 fatty liver disease ISO RGD:1605727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 2808 Foxa2 forkhead box A2 gene DOID:2018 hyperinsulinism ISO RGD:10719 D RGD:2313243|PMID:11445544 20090915 RGD 2808 Foxa2 forkhead box A2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605726 D RGD:11554787|PMID:26658322 20220406 RGD mRNA:decreased expression:lung 2808 Foxa2 forkhead box A2 gene DOID:630 genetic disease ISO RGD:1605726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2808 Foxa2 forkhead box A2 gene DOID:850 lung disease ISO RGD:1605726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 2808 Foxa2 forkhead box A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2808 Foxa2 forkhead box A2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312358|PMID:19433262 20090915 RGD mRNA:increased expression:kidney cortex 2808 Foxa2 forkhead box A2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1605726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 2808 Foxa2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:2313242|PMID:18797817 20090915 RGD DNA:SNP, repeat: :rs1055080 (human) 2808 Foxa2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:2313245|PMID:11043867 20090915 RGD DNA:missense mutation:p.A86T (human) 2808 Foxa2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1605726 D RGD:2313246|PMID:10868949 20090915 RGD DNA:transversion, transitions:promoter, exon:multiple 2808 Foxa2 forkhead box A2 gene DOID:9970 obesity ISO RGD:10719 D RGD:1627574|PMID:12865419 20070821 RGD 2809 Foxa3 forkhead box A3 gene DOID:630 genetic disease ISO RGD:1605725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2809 Foxa3 forkhead box A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 2809 Foxa3 forkhead box A3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315085|PMID:11018767 20091217 RGD mRNA:increased expression:liver 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0050770 polycystic liver disease ISO RGD:69093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:10227563|PMID:10768098|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:7240710 20151111 OMIM 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:10227563|PMID:10768098|PMID:15123688|PMID:15826954|PMID:17563455|PMID:18268044|PMID:20164212|PMID:21105491|PMID:21683639|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23348805|PMID:23485969|PMID:24097065|PMID:24285859|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27245055|PMID:27884173|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29355436|PMID:30005691|PMID:30191603|PMID:30977832|PMID:31264968|PMID:31529154|PMID:31529156|PMID:31595705|PMID:31875549|PMID:32583173|PMID:35052457|PMID:35118593 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115832 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:7240710 20130221 OMIM 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10905494|PMID:10983627|PMID:11043869|PMID:11272211|PMID:11435618|PMID:11575290|PMID:12050210|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12235114|PMID:12242469|PMID:12627330|PMID:12669197|PMID:15123688|PMID:15281001|PMID:15728204|PMID:15793260|PMID:15826954|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17389749|PMID:17407387|PMID:17563455|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21062274|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22140441|PMID:22232426|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23506826|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24476040|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26740944|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27884173|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31578528|PMID:31595705|PMID:31825128|PMID:31875549|PMID:32041611|PMID:32583173|PMID:33046911|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:8945471|PMID:9267996|PMID:9294105|PMID:9313765|PMID:9371825|PMID:9449683|PMID:9920109 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:25741868|PMID:36257325 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:1062 Fanconi syndrome ISS RGD:1550718 D RGD:13592920 20200312 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:13809 familial combined hyperlipidemia ISO RGD:69093 D RGD:12904697|PMID:18340007 20170518 RGD DNA:haplotype: :rs6031558,rs745975, rs3212198(human) 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:1686 glaucoma ISO RGD:69093 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:2018 hyperinsulinism ISO RGD:1550718 D RGD:12904698|PMID:17407387 20170518 RGD 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:2018 hyperinsulinism ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:10983627|PMID:15793260|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18811724|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23348805|PMID:23485969|PMID:24033266|PMID:24285859|PMID:25741868|PMID:25819479|PMID:26467025|PMID:27245055|PMID:27846149|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29493090|PMID:29998026|PMID:30005691|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:32583173|PMID:34789499|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:2234 focal epilepsy ISO RGD:69093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:5082 liver cirrhosis ISO RGD:69093 D RGD:12904747|PMID:20876809 20170522 RGD protein:decreased expression:liver: 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:630 genetic disease ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17563455|PMID:18268044|PMID:32583173|PMID:35052457|PMID:35118593 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:684 hepatocellular carcinoma IEP D RGD:12904747|PMID:20876809 20170522 RGD protein:decreased expression:liver: 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69093 D RGD:12904747|PMID:20876809 20170522 RGD protein:decreased expression:liver: 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:8577 ulcerative colitis ISO RGD:69093 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9000808 Hypercholesterolemia resistance ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) PMID:16804065|REF_RGD_ID:1601642 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:10227563|PMID:10768098|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2301838|PMID:18184923 20081104 RGD mRNA:decreased expression:kidney, liver 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:69093 D RGD:12904699|PMID:20126273 20170518 RGD DNA:altered methylation:prompter: 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9002427 Fetal Macrosomia IEP D RGD:12904767|PMID:19435144 20170523 RGD 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:69093 D RGD:12904698|PMID:17407387 20170518 RGD DNA:mutations: : 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9003426 Glycosuria ISO RGD:69093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycosuria PMID:10983627|PMID:15793260|PMID:16883527|PMID:16946562|PMID:17573900|PMID:18811724|PMID:19406499|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27846149|PMID:28492532|PMID:9267996|PMID:9313765|PMID:9449683 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2301838|PMID:18184923 20081104 RGD mRNA:decreased expression:kidney, liver 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550718 D RGD:12904769|PMID:19179483 20170523 RGD protein:increased expression:liver: 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:69093 D RGD:1601642|PMID:16804065 20070426 RGD 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:69093 D RGD:1601642|PMID:16804065 20070426 RGD 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69093 D RGD:12904701|PMID:20164212 20170518 RGD DNA:mutations: : 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:10227563|PMID:10447526|PMID:10768098|PMID:10983627|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15928245|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:20164212|PMID:21105491|PMID:22140441|PMID:22232426|PMID:23227446|PMID:23247789|PMID:24033266|PMID:24097065|PMID:24476040|PMID:25041077|PMID:25631608|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26740944|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29207974|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9351 diabetes mellitus ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10606640|PMID:10983627|PMID:12669197|PMID:15728204|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:21062274|PMID:24033266|PMID:24097065|PMID:25741868|PMID:26467025|PMID:26981542|PMID:27913849|PMID:28492532|PMID:30191644|PMID:31264968|PMID:32041611|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593|PMID:9267996 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus IEP D RGD:12904770|PMID:19252740 20170523 RGD mRNA:decreased expression:liver,pancreas 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1550718 D RGD:12904769|PMID:19179483 20170523 RGD protein:decreased expression:liver: 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17317762|PMID:21874001|PMID:22158537 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:1601637|PMID:8945471 20070426 RGD type I maturity-onset diabetes of the young, OMIM:125850 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:7240710 20130221 OMIM 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10447526|PMID:10768098|PMID:10983627|PMID:12669197|PMID:15281001|PMID:16883527|PMID:16946562|PMID:18414213|PMID:21105491|PMID:23227446|PMID:23247789|PMID:23268925|PMID:24033266|PMID:24097065|PMID:25041077|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9449683 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:2301836|PMID:18728231 20081104 RGD DNA:SNPs:promoter:(human) 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:2301839|PMID:18028455 20081104 RGD DNA:missense mutation:exon:p.T130I 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:2301863|PMID:18332101 20081105 RGD DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) (human) 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9993 hypoglycemia ISO RGD:1550718 D RGD:12904698|PMID:17407387 20170518 RGD 2810 Hnf4a hepatocyte nuclear factor 4, alpha gene DOID:9993 hypoglycemia ISO RGD:69093 D RGD:2301837|PMID:18268044 20081104 RGD associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation 2811 Onecut1 one cut homeobox 1 gene DOID:0050770 polycystic liver disease ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 2811 Onecut1 one cut homeobox 1 gene DOID:2717 Bloom syndrome ISO RGD:732947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2811 Onecut1 one cut homeobox 1 gene DOID:607 paraplegia ISO RGD:732947 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 2811 Onecut1 one cut homeobox 1 gene DOID:630 genetic disease ISO RGD:732947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2811 Onecut1 one cut homeobox 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:732947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 2811 Onecut1 one cut homeobox 1 gene DOID:9256 colorectal cancer ISO RGD:732947 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 2814 Hoxa4 homeo box A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736245 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2814 Hoxa4 homeo box A4 gene DOID:630 genetic disease ISO RGD:736245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2821 Hoxc8 homeobox C8 gene DOID:630 genetic disease ISO RGD:1353627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2821 Hoxc8 homeobox C8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353627 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2825 Hp haptoglobin gene DOID:0050589 inflammatory bowel disease ISO RGD:10728 D RGD:5147444|PMID:16775491 20110804 RGD 2825 Hp haptoglobin gene DOID:0050848 obstructive sleep apnea ISO RGD:737269 D RGD:5147384|PMID:19566894 20110803 RGD 2825 Hp haptoglobin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737269 D RGD:153350131|PMID:29199150 20220908 RGD protein:increased expression:saliva 2825 Hp haptoglobin gene DOID:0050868 hepatocellular adenoma IEP D RGD:1626391|PMID:10569800 20070806 RGD 2825 Hp haptoglobin gene DOID:0060180 colitis treatment IEP D RGD:11041866|PMID:22457771 20160330 RGD 2825 Hp haptoglobin gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2825 Hp haptoglobin gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:9491781|PMID:21806828 20160329 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737269 D RGD:9491781|PMID:21806828 20160329 RGD protein:decreased expression:serum 2825 Hp haptoglobin gene DOID:0080600 COVID-19 ISO RGD:737269 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2825 Hp haptoglobin gene DOID:10113 trypanosomiasis ISO RGD:10728 D RGD:11041867|PMID:19567273 20160330 RGD protein:increased expression:plasma 2825 Hp haptoglobin gene DOID:10591 pre-eclampsia ISO RGD:737269 D RGD:1626337|PMID:17220952 20070802 RGD protein:increased expression 2825 Hp haptoglobin gene DOID:10591 pre-eclampsia severity ISO RGD:737269 D RGD:1626343|PMID:16879055 20070802 RGD DNA:polymorphism 2825 Hp haptoglobin gene DOID:10763 hypertension IEP D RGD:7241867|PMID:23401751 20160330 RGD 2825 Hp haptoglobin gene DOID:10763 hypertension ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:10763 hypertension onset ISO RGD:737269 D RGD:1626352|PMID:8228210 20070802 RGD DNA:polymorphism 2825 Hp haptoglobin gene DOID:10763 hypertension susceptibility ISO RGD:737269 D RGD:1626351|PMID:7606649 20070802 RGD DNA:polymorphism 2825 Hp haptoglobin gene DOID:10923 sickle cell anemia ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:1099 alpha thalassemia ISO RGD:737269 D RGD:11041792|PMID:16760505 20160329 RGD 2825 Hp haptoglobin gene DOID:11055 pasteurellosis ISO RGD:10728 D RGD:5144216|PMID:21388634 20110802 RGD 2825 Hp haptoglobin gene DOID:11335 sarcoidosis ISO RGD:737269 D RGD:5147442|PMID:17446058 20110804 RGD 2825 Hp haptoglobin gene DOID:11713 diabetic angiopathy ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:11758 iron deficiency anemia ISO RGD:737269 D RGD:11041798|PMID:647925 20160329 RGD protein:decreased expression:serum 2825 Hp haptoglobin gene DOID:1205 allergic disease ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:12241 beta thalassemia ISO RGD:737269 D RGD:11041795|PMID:22885163 20160329 RGD 2825 Hp haptoglobin gene DOID:12365 malaria ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8730300|PMID:16597321 2825 Hp haptoglobin gene DOID:1240 leukemia ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:737269 D RGD:1626361|PMID:6218601 20070803 RGD 2825 Hp haptoglobin gene DOID:1287 cardiovascular system disease ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19769483 2825 Hp haptoglobin gene DOID:1287 cardiovascular system disease ISO RGD:737269 D RGD:1626350|PMID:10606363 20070802 RGD associated with Arthritis, Rheumatoid 2825 Hp haptoglobin gene DOID:12930 dilated cardiomyopathy ISO RGD:737269 D RGD:1626345|PMID:16360363 20070802 RGD protein:increased expression 2825 Hp haptoglobin gene DOID:13189 gout ISO RGD:737269 D RGD:1626362|PMID:7281841 20070803 RGD 2825 Hp haptoglobin gene DOID:1324 lung cancer IEP D RGD:11041857|PMID:19794824 20160330 RGD 2825 Hp haptoglobin gene DOID:13378 Kawasaki disease ISO RGD:737269 D RGD:5147383|PMID:20957478 20110803 RGD 2825 Hp haptoglobin gene DOID:13580 cholestasis IEP D RGD:1626374|PMID:12940443 20070803 RGD mRNA:increased expression:liver 2825 Hp haptoglobin gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:737269 D RGD:11041793|PMID:24478401 20160329 RGD DNA:missense mutation:cds:p.K54E (human) 2825 Hp haptoglobin gene DOID:1936 atherosclerosis ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:1936 atherosclerosis treatment IEP D RGD:11041860|PMID:23665315 20160330 RGD 2825 Hp haptoglobin gene DOID:2018 hyperinsulinism ISO RGD:737269 D RGD:1626335|PMID:17598972 20070802 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:2043 hepatitis B ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:2349 arteriosclerosis ISO RGD:10728 D RGD:1626340|PMID:17068284 20070802 RGD 2825 Hp haptoglobin gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737269 D RGD:1626352|PMID:8228210 20070802 RGD associated with Hypertension;DNA:polymorphism 2825 Hp haptoglobin gene DOID:2352 hemochromatosis ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:2355 anemia ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16637741 2825 Hp haptoglobin gene DOID:2841 asthma ISO RGD:737269 D RGD:5144151|PMID:21471098 20110801 RGD 2825 Hp haptoglobin gene DOID:2841 asthma ISO RGD:737269 D RGD:5509920|PMID:21169467 20110802 RGD 2825 Hp haptoglobin gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:737269 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 2825 Hp haptoglobin gene DOID:3021 acute kidney failure IEP D RGD:11041863|PMID:19270397 20160330 RGD 2825 Hp haptoglobin gene DOID:3021 acute kidney failure ISO RGD:737269 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2825 Hp haptoglobin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737269 D RGD:5144151|PMID:21471098 20110801 RGD 2825 Hp haptoglobin gene DOID:3393 coronary artery disease ISO RGD:737269 D RGD:1626363|PMID:884791 20070803 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:3525 middle cerebral artery infarction IEP D RGD:7175514|PMID:22103620 20160329 RGD 2825 Hp haptoglobin gene DOID:399 tuberculosis ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:417 autoimmune disease ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:4195 hyperglycemia ISO RGD:737269 D RGD:1626355|PMID:3690840 20070802 RGD associated with Diabetes;protein:increased glycation:plasma 2825 Hp haptoglobin gene DOID:5082 liver cirrhosis ISO RGD:737269 D RGD:9491781|PMID:21806828 20160329 RGD associated with Hepatitis C, Chronic;protein:decreased expression:serum 2825 Hp haptoglobin gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:5327 retinal detachment ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:5419 schizophrenia ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2825 Hp haptoglobin gene DOID:583 hemolytic anemia ISO RGD:737269 D RGD:11041791|PMID:16637741 20160329 RGD associated with Malaria 2825 Hp haptoglobin gene DOID:5844 myocardial infarction ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321|PMID:17068284|PMID:17207726 2825 Hp haptoglobin gene DOID:5844 myocardial infarction ISO RGD:737269 D RGD:1626354|PMID:2613263 20070802 RGD 2825 Hp haptoglobin gene DOID:5844 myocardial infarction susceptibility ISO RGD:737269 D RGD:1626360|PMID:3990081 20070803 RGD 2825 Hp haptoglobin gene DOID:6000 congestive heart failure treatment IEP D RGD:11041812|PMID:23494325 20160329 RGD 2825 Hp haptoglobin gene DOID:630 genetic disease ISO RGD:737269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2825 Hp haptoglobin gene DOID:6432 pulmonary hypertension ISO RGD:737269 D RGD:1626353|PMID:2043024 20070802 RGD protein:decreased expression:serum 2825 Hp haptoglobin gene DOID:6432 pulmonary hypertension ISO RGD:737269 D RGD:5147420|PMID:19703762 20110804 RGD 2825 Hp haptoglobin gene DOID:6432 pulmonary hypertension ISO RGD:737269 D RGD:5147440|PMID:19023114 20110804 RGD 2825 Hp haptoglobin gene DOID:6432 pulmonary hypertension treatment ISO RGD:737269 D RGD:11041794|PMID:25656991 20160329 RGD 2825 Hp haptoglobin gene DOID:684 hepatocellular carcinoma ISO RGD:737269 D RGD:152995276|PMID:24259486 20220613 RGD protein:decreased expression:liver (human) 2825 Hp haptoglobin gene DOID:684 hepatocellular carcinoma ISO RGD:737269 D RGD:27095881|PMID:31041878 20200514 RGD protein:increased expression:saliva 2825 Hp haptoglobin gene DOID:784 chronic kidney disease IEP D RGD:11041800|PMID:18569920 20160329 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:848 arthritis ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:8577 ulcerative colitis ISO RGD:737269 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2825 Hp haptoglobin gene DOID:9000528 Coronary Disease severity ISO RGD:737269 D RGD:1626344|PMID:16673012 20070802 RGD 2825 Hp haptoglobin gene DOID:9000808 Hypercholesterolemia ISO RGD:737269 D RGD:1626342|PMID:16944942 20070802 RGD protein:increased expression:plasma 2825 Hp haptoglobin gene DOID:9000998 Brain Injuries IEP D RGD:11041806|PMID:23172820 20160329 RGD mRNA:increased expression:liver 2825 Hp haptoglobin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1626367|PMID:16968543 20070803 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:9491781|PMID:21806828 20160329 RGD protein:decreased expression:serum 2825 Hp haptoglobin gene DOID:9001600 Wounds and Injuries IEP D RGD:1626378|PMID:11521461 20070803 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9001600 Wounds and Injuries treatment IEP D RGD:11041807|PMID:24263389 20160329 RGD associated with Diabetes Mellitus, Experimental 2825 Hp haptoglobin gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:9001708 Hemorrhagic Shock IEP D RGD:5147418|PMID:20016403 20110804 RGD 2825 Hp haptoglobin gene DOID:9001720 Anhaptoglobinemia ISO RGD:737269 D RGD:7240710 20141022 OMIM 2825 Hp haptoglobin gene DOID:9001720 Anhaptoglobinemia ISO RGD:737269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHAPTOGLOBINEMIA | ClinVar Annotator: match by term: Anhaptoglobinemia PMID:10644822|PMID:10666182|PMID:14616769|PMID:14999562|PMID:25741868|PMID:9463309 2825 Hp haptoglobin gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:737269 D RGD:5147385|PMID:19396720 20110803 RGD 2825 Hp haptoglobin gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:1626366|PMID:17187421 20070803 RGD 2825 Hp haptoglobin gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:11041815|PMID:21699906 20160329 RGD 2825 Hp haptoglobin gene DOID:9002457 Experimental Arthritis IEP D RGD:1626370|PMID:15899029 20070803 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9002457 Experimental Arthritis IEP D RGD:1626375|PMID:12801280 20070803 RGD mRNA, protein:increased expression:tendon, ankle 2825 Hp haptoglobin gene DOID:9002661 Diabetes Complications ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19769483 2825 Hp haptoglobin gene DOID:9002669 Hypoxia IEP D RGD:1626356|PMID:3094379 20070802 RGD protein:decreased expression:plasma 2825 Hp haptoglobin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:10728 D RGD:11041810|PMID:20016097 20160329 RGD 2825 Hp haptoglobin gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:737269 D RGD:11041810|PMID:20016097 20160329 RGD 2825 Hp haptoglobin gene DOID:9003234 Hypertensive Nephropathy treatment IEP D RGD:11041817|PMID:24029866 20160329 RGD 2825 Hp haptoglobin gene DOID:9003370 Dyslipidemias ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:9003603 Hemolysis ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 2825 Hp haptoglobin gene DOID:9003871 Venous Thrombosis ISO RGD:737269 D RGD:1626365|PMID:17203959 20070803 RGD associated with Pulmonary Embolism;protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9004017 Chronic Hepatitis C ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:11041861|PMID:23880232 20160330 RGD 2825 Hp haptoglobin gene DOID:9005372 Inflammation IEP D RGD:1626376|PMID:12669191 20070803 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9005587 Starvation IEP D RGD:11041864|PMID:19053136 20160330 RGD 2825 Hp haptoglobin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1626381|PMID:11072799 20070803 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9005828 Sickle Cell Trait ISO RGD:737269 D RGD:5147416|PMID:21595649 20110804 RGD 2825 Hp haptoglobin gene DOID:9005828 Sickle Cell Trait ISO RGD:737269 D RGD:5147440|PMID:19023114 20110804 RGD 2825 Hp haptoglobin gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11041814|PMID:19012726 20160329 RGD 2825 Hp haptoglobin gene DOID:9006436 Foodborne Diseases ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21075095 2825 Hp haptoglobin gene DOID:9006646 Metabolic Syndrome ISO RGD:737269 D RGD:1626341|PMID:17007284 20070802 RGD protein:increased expression 2825 Hp haptoglobin gene DOID:9006646 Metabolic Syndrome treatment IDA D RGD:11041859|PMID:20508159 20160330 RGD 2825 Hp haptoglobin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737269 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 2825 Hp haptoglobin gene DOID:9007096 Stroke ISO RGD:737269 D RGD:11041787|PMID:24567965 20160329 RGD associated with sickle cell anemia;DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup (human) 2825 Hp haptoglobin gene DOID:9007096 Stroke ISO RGD:737269 D RGD:1626348|PMID:12468764 20070802 RGD protein:increased expression:plasma 2825 Hp haptoglobin gene DOID:9007278 Anaphylaxis ISO RGD:737269 D RGD:11041789|PMID:12147031 20160329 RGD 2825 Hp haptoglobin gene DOID:9007399 Female Genital Neoplasms ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:11041790|PMID:11922743 20160329 RGD 2825 Hp haptoglobin gene DOID:9008163 Chronic Hepatitis B ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:737269 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 2825 Hp haptoglobin gene DOID:9008746 Pasteurellaceae Infections ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 2825 Hp haptoglobin gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:737269 D RGD:11041816|PMID:19279121 20160329 RGD protein:increased expression:urine 2825 Hp haptoglobin gene DOID:9008939 Breast Neoplasms ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 2825 Hp haptoglobin gene DOID:9351 diabetes mellitus ISO RGD:737269 D RGD:1626347|PMID:12540619 20080818 RGD 2825 Hp haptoglobin gene DOID:9352 type 2 diabetes mellitus ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16506275 2825 Hp haptoglobin gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:6483015|PMID:19996384 20160330 RGD 2825 Hp haptoglobin gene DOID:9477 pulmonary embolism IEP D RGD:1626365|PMID:17203959 20070803 RGD mRNA, protein:increased expression:lung, liver, serum 2825 Hp haptoglobin gene DOID:9477 pulmonary embolism IEP D RGD:5147419|PMID:19943874 20110804 RGD 2825 Hp haptoglobin gene DOID:9477 pulmonary embolism IEP D RGD:5688769|PMID:22014850 20160330 RGD protein:decreased expression:blood microparticle 2825 Hp haptoglobin gene DOID:9477 pulmonary embolism ISO RGD:737269 D RGD:5147425|PMID:19566548 20110804 RGD 2825 Hp haptoglobin gene DOID:9744 type 1 diabetes mellitus IEP D RGD:11041804|PMID:20975081 20160329 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9744 type 1 diabetes mellitus ISO RGD:737269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16506275 2825 Hp haptoglobin gene DOID:9744 type 1 diabetes mellitus treatment IDA D RGD:11041868|PMID:20853098 20160330 RGD 2825 Hp haptoglobin gene DOID:9970 obesity IEP D RGD:1626339|PMID:17161237 20070802 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9970 obesity ISO RGD:10728 D RGD:1626349|PMID:11807829 20070802 RGD mRNA:increased expression:white fat 2825 Hp haptoglobin gene DOID:9970 obesity ISO RGD:737269 D RGD:1626346|PMID:15181041 20070802 RGD protein:increased expression:serum 2825 Hp haptoglobin gene DOID:9970 obesity treatment IDA D RGD:9685197|PMID:19917068 20160329 RGD 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731296 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:7240710 20131030 OMIM 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HPRT1-Related Disorder | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:10737990|PMID:11018746|PMID:11891689|PMID:1301916|PMID:1483694|PMID:15386453|PMID:15505382|PMID:1551676|PMID:15571220|PMID:16199547|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17576681|PMID:1781350|PMID:18600506|PMID:19016344|PMID:1937471|PMID:20176575|PMID:2071157|PMID:20981450|PMID:22132984|PMID:22157001|PMID:2246854|PMID:22999896|PMID:2323782|PMID:2347587|PMID:2358296|PMID:23597535|PMID:23975452|PMID:25136576|PMID:2516172|PMID:25481104|PMID:25741868|PMID:2738157|PMID:28045594|PMID:28492532|PMID:2896620|PMID:2928313|PMID:3358423|PMID:3384338|PMID:6087154|PMID:6204922|PMID:6309910|PMID:6706936|PMID:7987318|PMID:8111415|PMID:8125482|PMID:9288634|PMID:9536098|PMID:9799086 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15571220|PMID:17027311|PMID:22157001|PMID:2323782|PMID:23975452|PMID:25481104|PMID:25741868|PMID:28492532 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:731296 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:13462064|PMID:20638392 20171211 RGD DNA:mutations:multiple: 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:13463104|PMID:24940672 20171212 RGD DNA:deletion,insertion,duplication:cds: 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:7240710 20130221 OMIM 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lesch-Nyhan syndrome PMID:10767182|PMID:11018746|PMID:11668636|PMID:1434518|PMID:15505382|PMID:1551676|PMID:15571220|PMID:1618489|PMID:1639405|PMID:16549399|PMID:17027311|PMID:17454734|PMID:1781350|PMID:1840549|PMID:1937471|PMID:20176575|PMID:2071157|PMID:22132984|PMID:22157001|PMID:2323782|PMID:2347587|PMID:23975452|PMID:2516172|PMID:25481104|PMID:25741868|PMID:2738157|PMID:2760209|PMID:28492532|PMID:28708303|PMID:2910902|PMID:2928313|PMID:31182398|PMID:3198771|PMID:3384338|PMID:3909940|PMID:3944251|PMID:6087154|PMID:6853716|PMID:8664901 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1920 hyperuricemia ISO RGD:731296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:731296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11018746|PMID:1301916|PMID:23975452|PMID:24940672|PMID:25420563|PMID:25481104|PMID:25482009|PMID:28492532|PMID:9003484 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:5135035|PMID:6327016 20110711 RGD protein:increased activity:hepatoma (rat) 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005497 Lesch-Nyhan Syndrome, Neurologic Variant ISO RGD:731296 D RGD:13463104|PMID:24940672 20171212 RGD DNA,mRNA:missense mutations,decreased expression:cds: 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005497 Lesch-Nyhan Syndrome, Neurologic Variant ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:2358296|PMID:25481104|PMID:28492532 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135485|PMID:3043317 20110722 RGD protein:decreased activity:liver (rat) 2826 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1549982 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2827 Hras HRas proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10930038 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:10412308|PMID:16170316 20151116 RGD DNA:snps:missense mutations:cds:multiple (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:11070051|PMID:16881968 20170201 RGD DNA:missense mutation:C.34G>A(p.G12S)(human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:11085804|PMID:25914166 20170201 RGD DNA:missense mutation:cds:c.179G>A( p.G60D)(human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468812|PMID:17703371|PMID:19132118 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:7240710 20130221 OMIM 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:29684080|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32313153|PMID:32371413|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050729 neutral lipid storage disease ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8200073 2827 Hras HRas proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:0060071 pre-malignant neoplasm ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2675901 2827 Hras HRas proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 2827 Hras HRas proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 2827 Hras HRas proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:0080773 delta beta-thalassemia ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2827 Hras HRas proto-oncogene, GTPase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730881 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 2827 Hras HRas proto-oncogene, GTPase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:730881 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:7240710 20160113 OMIM 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:7240710 20150702 OMIM 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:11098548|PMID:22683711 20170201 RGD DNA:mutation:cds:c.37G>C(p.G13R)(human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683711 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:7240710 20141015 OMIM 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:0111969 immunodeficiency 39 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:730881 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:10652 Alzheimer's disease ISO RGD:730881 D RGD:10412306|PMID:10661494 20151116 RGD protein:increased expression:brain, neuron (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:10933 obsessive-compulsive disorder ISO RGD:730881 D RGD:12738360|PMID:8832771 20170201 RGD DNA:tandem repeat polymorphism:3' end: 2827 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:11060144|PMID:16818665 20160419 RGD 2827 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2228319|PMID:2278634|PMID:15958052 2827 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:7240710 20130221 OMIM 2827 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730881 D RGD:2314833|PMID:19762144 20091130 RGD 2827 Hras HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8098541 2827 Hras HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:1358733|PMID:8098541 19990101 RGD 2827 Hras HRas proto-oncogene, GTPase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730881 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:10412316|PMID:8453633 20151116 RGD associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24224046|PMID:25125259 2827 Hras HRas proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:730881 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 2827 Hras HRas proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:2048 autoimmune hepatitis ISO RGD:730881 D RGD:14694814|PMID:9195373 20190612 RGD human gene in a mouse model 2827 Hras HRas proto-oncogene, GTPase gene DOID:2394 ovarian cancer ISO RGD:730881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:2615 papilloma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8330346 2827 Hras HRas proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3433577 2827 Hras HRas proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:730881 D RGD:2314836|PMID:19303097 20091130 RGD DNA, mRNA:mutation, increased expression:urinary bladder 2827 Hras HRas proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:13441555|PMID:9641239 20180808 RGD protein:increased expression:endometrial stroma, cytoplasm (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:13781876|PMID:8960147 20180808 RGD DNA:snps:cds: (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 2827 Hras HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:10730 D RGD:13702475|PMID:20879984 20180718 RGD DNA:missense mutation:cds:p.G61L(human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma severity ISO RGD:730881 D RGD:13702872|PMID:19179066 20180720 RGD 2827 Hras HRas proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISS RGD:10730 D RGD:13592920 20180518 MouseDO 2827 Hras HRas proto-oncogene, GTPase gene DOID:3070 high grade glioma ISO RGD:730881 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 2827 Hras HRas proto-oncogene, GTPase gene DOID:3165 skin benign neoplasm ISO RGD:730881 D RGD:11098548|PMID:22683711 20170201 RGD associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:3247 rhabdomyosarcoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:3275 thymoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 2827 Hras HRas proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26580448|PMID:26619011|PMID:28492532|PMID:29493581 2827 Hras HRas proto-oncogene, GTPase gene DOID:3571 liver cancer ISO RGD:10730 D RGD:14688053|PMID:9142214 20190610 RGD DNA:missense mutations:cds:p.Q61L, p.Q61K, p.Q61R (mouse) 2827 Hras HRas proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:730881 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 2827 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:26558449 2827 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:4007 bladder carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 2827 Hras HRas proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 2827 Hras HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:2314832|PMID:19855393 20091130 RGD DNA:mutations: :multiple (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:5082 liver cirrhosis ISO RGD:730881 D RGD:14694815|PMID:7535324 20190612 RGD mRNA:increased expression:liver (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:5834 spermatocytoma ISO RGD:730881 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:591 phobic disorder ISO RGD:730881 D RGD:12738360|PMID:8832771 20170201 RGD DNA:tandem repeat polymorphism:3' end: 2827 Hras HRas proto-oncogene, GTPase gene DOID:6171 uterine carcinosarcoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:8605880|PMID:9536098 2827 Hras HRas proto-oncogene, GTPase gene DOID:6420 pulmonary valve stenosis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 2827 Hras HRas proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:10730 D RGD:14694810|PMID:2219132 20190612 RGD mRNA:increased expression:liver (mouse) 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:8200073|PMID:9311599|PMID:20118494|PMID:27517622|PMID:28284560 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:14688054|PMID:15806265 20190610 RGD protein:increased expression:liver (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:14694809|PMID:23555816 20190612 RGD human plasmid in a mouse model 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730881 D RGD:14688055|PMID:10791191 20190610 RGD human cells in a mouse model 2827 Hras HRas proto-oncogene, GTPase gene DOID:686 liver carcinoma IDA D RGD:14694848|PMID:3345576 20190617 RGD DNA:hypomethylation 2827 Hras HRas proto-oncogene, GTPase gene DOID:7608 parathyroid adenoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 2827 Hras HRas proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:26121086 2827 Hras HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:8947 diabetic retinopathy IDA D RGD:1358731|PMID:14988264 19990101 RGD 2827 Hras HRas proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11397402|PMID:26558449 2827 Hras HRas proto-oncogene, GTPase gene DOID:9000294 Trichilemmoma ISO RGD:730881 D RGD:12738400|PMID:24890286 20170209 RGD associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 2827 Hras HRas proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:730881 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:12082015|PMID:32621833 2827 Hras HRas proto-oncogene, GTPase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 2827 Hras HRas proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730881 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:7955063|PMID:20118494|PMID:21147764|PMID:27517622 2827 Hras HRas proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3433577|PMID:11552296|PMID:26558449 2827 Hras HRas proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730881 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2827 Hras HRas proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms onset ISO RGD:730881 D RGD:13441555|PMID:9641239 20171026 RGD protein:increased expression:endometrial stroma (human) 2827 Hras HRas proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 2827 Hras HRas proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:730881 D RGD:11554173 20200422 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 2827 Hras HRas proto-oncogene, GTPase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 2827 Hras HRas proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730881 D RGD:2314838|PMID:14984964 20091130 RGD mRNA:increased expression:uterine cervix 2827 Hras HRas proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9004464 Skin Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8330346|PMID:8508502|PMID:9766437|PMID:15958052|PMID:18758463|PMID:24898257|PMID:26558449 2827 Hras HRas proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3078959 2827 Hras HRas proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23877152 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10779650|PMID:11307925|PMID:11552296|PMID:12765245|PMID:15902970 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:2314834|PMID:19652463 20091130 RGD DNA:mutation: :p.G12E (rat) 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8185828|PMID:11376698 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005343 Splenic Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26558449 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314841|PMID:18514235 20091130 RGD mRNA, protein:increased expression:retina blood vessel 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20043093 2827 Hras HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms susceptibility ISO RGD:730881 D RGD:12738401|PMID:20043093 20170203 RGD 2827 Hras HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:7240710 20130221 OMIM 2827 Hras HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 2827 Hras HRas proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:730881 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:12082015|PMID:12127263|PMID:16410370|PMID:17514646 2827 Hras HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms IEP D RGD:2314840|PMID:19283661 20091130 RGD associated with Diabetes Mellitus;protein:increased expression:oral region 2827 Hras HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 2827 Hras HRas proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:730881 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 2827 Hras HRas proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730881 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:18245498|PMID:18829283|PMID:22048643|PMID:23877152 2827 Hras HRas proto-oncogene, GTPase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9008192 Neoplastic Processes ISO RGD:730881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12082015 2827 Hras HRas proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 2827 Hras HRas proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:730881 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:12165863|PMID:15958052|PMID:17474063|PMID:19652463|PMID:32621833 2827 Hras HRas proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 2827 Hras HRas proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 2827 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2827 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 2829 Plaat3 phospholipase A and acyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 2829 Plaat3 phospholipase A and acyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:737532 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2829 Plaat3 phospholipase A and acyltransferase 3 gene DOID:4440 seminoma ISO RGD:737532 D RGD:2290002|PMID:11526504 20080222 RGD 2829 Plaat3 phospholipase A and acyltransferase 3 gene DOID:630 genetic disease ISO RGD:737532 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2829 Plaat3 phospholipase A and acyltransferase 3 gene DOID:9004207 Testicular Neoplasms ISO RGD:737532 D RGD:2290002|PMID:11526504 20080222 RGD 2829 Plaat3 phospholipase A and acyltransferase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:734412 D RGD:2290001|PMID:9049257 20080222 RGD 2830 Hrh1 histamine receptor H 1 gene DOID:0060001 withdrawal disorder ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 2830 Hrh1 histamine receptor H 1 gene DOID:0060496 respiratory allergy ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12095164 2830 Hrh1 histamine receptor H 1 gene DOID:1272 telangiectasis ISO RGD:736085 D RGD:11554173 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 2830 Hrh1 histamine receptor H 1 gene DOID:1936 atherosclerosis ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25020133 2830 Hrh1 histamine receptor H 1 gene DOID:4481 allergic rhinitis ISO RGD:736085 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:23333628 2830 Hrh1 histamine receptor H 1 gene DOID:4483 rhinitis ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 2830 Hrh1 histamine receptor H 1 gene DOID:5419 schizophrenia ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1912125 2830 Hrh1 histamine receptor H 1 gene DOID:630 genetic disease ISO RGD:736085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2830 Hrh1 histamine receptor H 1 gene DOID:9000641 Pain ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12128009|PMID:14569158 2830 Hrh1 histamine receptor H 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736085 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2830 Hrh1 histamine receptor H 1 gene DOID:9006024 Hypotension ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2105067 2830 Hrh1 histamine receptor H 1 gene DOID:9006202 Pruritus ISO RGD:736085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 2830 Hrh1 histamine receptor H 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:736085 D RGD:11554173 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 2831 Hrh2 histamine receptor H 2 gene DOID:0060001 withdrawal disorder ISO RGD:735725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 2831 Hrh2 histamine receptor H 2 gene DOID:10763 hypertension ISO RGD:735725 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 2831 Hrh2 histamine receptor H 2 gene DOID:224 transient cerebral ischemia IEP D RGD:9685533|PMID:16181737 20150115 RGD protein:decreased expression:caudate putamen (rat) 2831 Hrh2 histamine receptor H 2 gene DOID:2661 myoepithelioma ISO RGD:735725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 2831 Hrh2 histamine receptor H 2 gene DOID:2671 transitional cell carcinoma ISO RGD:735725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 2831 Hrh2 histamine receptor H 2 gene DOID:4248 coronary stenosis ISO RGD:735725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 2831 Hrh2 histamine receptor H 2 gene DOID:6000 congestive heart failure susceptibility ISO RGD:10732 D RGD:9685523|PMID:24655024 20150114 RGD 2831 Hrh2 histamine receptor H 2 gene DOID:630 genetic disease ISO RGD:735725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2831 Hrh2 histamine receptor H 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 2831 Hrh2 histamine receptor H 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:735725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 2831 Hrh2 histamine receptor H 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735725 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 2831 Hrh2 histamine receptor H 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22926047 2831 Hrh2 histamine receptor H 2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10732 D RGD:9685524|PMID:23467745 20150114 RGD 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:1625067|PMID:12858176 20070518 RGD DNA:insertion,transversion:intron:86557insA, 83597T>G (human) 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:7240710 20140911 OMIM 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 2 PMID:21325058|PMID:25741868 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9683905|PMID:15199296|PMID:21786805 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:1625074|PMID:14697232 20070518 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737091 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1824 status epilepticus IEP D RGD:5686281|PMID:22050960 20170307 RGD mRNA:increased expression:hippocampus 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome IEP D RGD:1625074|PMID:14697232 20070518 RGD 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21786805 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007772 Abdominal Obesity ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737091 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1625074|PMID:14697232 20070518 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity IDA D RGD:1625073|PMID:15131764 20070518 RGD 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17628001|PMID:21786805 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:1331525|PMID:15118671 19990101 GAD 2834 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:1625071|PMID:16914598 20070518 RGD 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension IEP D RGD:2308925|PMID:10792625 20090618 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension IMP D RGD:13800514|PMID:26077568 20220203 RGD 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670488|PMID:9683905|PMID:9707624|PMID:11082157 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:1625078|PMID:9683587 20070518 RGD apparent mineralocorticoid excess syndrome, OMIM:218030 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:1184 nephrotic syndrome ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:2841 asthma ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7608290|PMID:7670488|PMID:9683905|PMID:9707624|PMID:11085685|PMID:19075542 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:7240710 20160127 OMIM 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild PMID:10536001|PMID:11114699|PMID:11238516|PMID:12788846|PMID:15126515|PMID:15134813|PMID:15673310|PMID:16778331|PMID:17314322|PMID:20571110|PMID:23303402|PMID:24123366|PMID:25593612|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864|PMID:3860318|PMID:7593417|PMID:7593456|PMID:7608290|PMID:7670488|PMID:9398712|PMID:9683587|PMID:9707624|PMID:9851783 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5082 liver cirrhosis ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5199 ureteral obstruction IEP D RGD:2308940|PMID:17475897 20090619 RGD protein:decreased expression:kidney 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction IEP D RGD:2308939|PMID:17587755 20090619 RGD mRNA:increased expression:heart 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17587755 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737468 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:655 inherited metabolic disorder ISO RGD:737468 D RGD:1625078|PMID:9683587 20070518 RGD apparent mineralocorticoid excess syndrome, OMIM:218030 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2308941|PMID:17272666 20090619 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737468 D RGD:2308922|PMID:17519316 20090618 RGD mRNA, protein:increased expression:skeletal muscle 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16616286 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:2308923|PMID:16616286 20090618 RGD 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:2308924|PMID:11916625 20090618 RGD 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity IEP D RGD:1625081|PMID:17208436 20070518 RGD mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat 2835 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:737468 D RGD:1625083|PMID:15793240 20070518 RGD from transgenic mice expressing human HSD11B2 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736216 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:736216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:289 endometriosis ISO RGD:736216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18815356 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736216 D RGD:4890946|PMID:10682658 20101222 RGD protein:decreased expression:ductal breast carcinoma (human) 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:736216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 2836 Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2837 Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 gene DOID:11612 polycystic ovary syndrome IEP D RGD:10402205|PMID:25887459 20151020 RGD mRNA:decreased expression:ovarian cortex (rat) 2837 Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:735953 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2837 Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 gene DOID:630 genetic disease ISO RGD:735953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2837 Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735953 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:0050553 JMP syndrome ISO RGD:736398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:0080205 CAKUT ISO RGD:736398 D RGD:7242732|PMID:20692469 20130417 RGD DNA: SNP: :g.1267A>G 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:0080784 urinary tract infection ISO RGD:736398 D RGD:7242733|PMID:20379347 20130417 RGD DNA: SNP: :g.1267A>G 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:0081267 graft-versus-host disease severity IEP D RGD:8662845|PMID:18580475 20140625 RGD mRNA:increased expression:skin 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:736398 D RGD:10402401|PMID:12967056 20151023 RGD DNA:polymorphism: : 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:1168 familial hyperlipidemia ISO RGD:736398 D RGD:1626649|PMID:15992611 20070814 RGD associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:736398 D RGD:5147601|PMID:12771604 20110815 RGD associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:1936 atherosclerosis ISO RGD:736398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:2316 brain ischemia ISO RGD:736398 D RGD:1626649|PMID:15992611 20070814 RGD associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736398 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17234771 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:37 skin disease ISO RGD:736398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:5419 schizophrenia ISO RGD:736398 D RGD:5147596|PMID:18299791 20110815 RGD DNA:silent mutation, haplotype:cds: (rs539689) (human) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:630 genetic disease ISO RGD:736398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:736398 D RGD:7242747|PMID:18518860 20130418 RGD 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9002669 Hypoxia ISO RGD:12344815 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736398 D RGD:8662841|PMID:18813331 20140625 RGD DNA:SNP, haplotype: :rs1061581 (human) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9003817 Sudden Hearing Loss ISO RGD:736398 D RGD:8662465|PMID:22922572 20140624 RGD DNA:SNP, haplotype: :rs2763979 (human) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9004009 Reperfusion Injury IEP D RGD:7242749|PMID:10550516 20130418 RGD 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9004009 Reperfusion Injury ISO RGD:736398 D RGD:7242748|PMID:10965299 20130418 RGD 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9007964 Arsenic Poisoning ISO RGD:736398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9008212 Diabetic Foot severity ISO RGD:736398 D RGD:8662463|PMID:19731315 20140624 RGD DNA:polymorphism: :1538G>A (human) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9008939 Breast Neoplasms ISO RGD:736398 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15665820 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:736398 D RGD:1626646|PMID:15223990 20070814 RGD DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic p 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9669 senile cataract susceptibility ISO RGD:736398 D RGD:8662462|PMID:23666708 20140624 RGD DNA:SNP: :1267A>G (human) 2840 Hspa1a heat shock protein family A (Hsp70) member 1A gene DOID:9970 obesity ISO RGD:736398 D RGD:1626642|PMID:11319647 20070814 RGD DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:736447 D RGD:5685671|PMID:21864296 20120116 RGD protein:increased expression 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0060478 Zika fever ISO RGD:10742 D RGD:32733625|PMID:30241539 20200701 RGD mRNA,protein:increased expression:brain 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0060496 respiratory allergy ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0070004 myeloid neoplasm ISO RGD:10742 D RGD:11354915|PMID:21937694 20160729 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736447 D RGD:5685690|PMID:21209083 20120117 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:10320 asbestosis ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:11832 visual epilepsy IEP D RGD:11354919|PMID:25219120 20160729 RGD protein:increased expression:hippocampus: 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10742 D RGD:5686293|PMID:21094208 20120118 RGD protein:increased expression:brain 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:2055 post-traumatic stress disorder IEP D RGD:13782181|PMID:25331812 20180827 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:11354959|PMID:25632565 20160801 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3070 high grade glioma ISO RGD:736447 D RGD:5685704|PMID:21112319 20120117 RGD protein:increased expression 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736447 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10742 D RGD:5685632|PMID:22227563 20120112 RGD mRNA,protein:increased expression:lungs 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782175|PMID:25707520 20180827 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:5844 myocardial infarction ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:630 genetic disease ISO RGD:736447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736447 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:29698666 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:736447 D RGD:5685639|PMID:11315915 20120113 RGD protein:increased expression:synovial joint 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10742 D RGD:5685666|PMID:21933012 20120116 RGD mRNA: increased expression 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:5685664|PMID:21940431 20120116 RGD mRNA:increased expression 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:11354961|PMID:24463125 20160801 RGD protein:increased expression:spinal cord: 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2311449|PMID:19301230 20160801 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:5685668|PMID:21927577 20120116 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002955 Nerve Degeneration IEP D RGD:5685686|PMID:21436843 20120116 RGD protein:decreased expression:spinal cord 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9004009 Reperfusion Injury IMP D RGD:5685650|PMID:22075494 20120113 RGD associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:34901874|PMID:30465396 20200707 RGD associated with Crush Injuries 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9005666 Contrast-Induced Nephropathy treatment IEP D RGD:13782262|PMID:27781957 20180829 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9006532 Hematologic Neoplasms ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10742 D RGD:156430337|PMID:36044268 20230228 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736447 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007456 Female Infertility ISO RGD:736447 D RGD:5685640|PMID:22143970 20120113 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:11354914|PMID:26464680 20160729 RGD protein:increased expression:neutrophil: 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:11354962|PMID:24129401 20160801 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782178|PMID:25547710 20180827 RGD 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD mRNA,protein:increased expression:chondrocyte 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:10742 D RGD:5686342|PMID:20957756 20120119 RGD protein:increased expression 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 fatty liver disease IEP D RGD:11354957|PMID:23647685 20160801 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: 2843 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9970 obesity ISO RGD:736447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 2844 Hspe1 heat shock protein family E (Hsp10) member 1 gene DOID:0050700 cardiomyopathy ISO RGD:733544 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12967636 2844 Hspe1 heat shock protein family E (Hsp10) member 1 gene DOID:630 genetic disease ISO RGD:733544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2844 Hspe1 heat shock protein family E (Hsp10) member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733544 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:10652 Alzheimer's disease ISO RGD:69020 D RGD:5683632|PMID:20508993 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:13628 favism ISO RGD:69020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:25741868 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:14330 Parkinson's disease IMP D RGD:5683633|PMID:20508280 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:1596 depressive disorder ISO RGD:69020 D RGD:5683629|PMID:21512427 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:1596 depressive disorder ISO RGD:69020 D RGD:5683634|PMID:10578452 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:69020 D RGD:5683629|PMID:21512427 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISS RGD:10745 D RGD:13592920 20180518 MouseDO OMIM:607834 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder IMP D RGD:5683630|PMID:21421022 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:69020 D RGD:5683631|PMID:20817074 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:630 genetic disease ISO RGD:69020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:8646 substance-induced psychosis ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747927 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:8927 learning disability ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21447133 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000495 Tremor ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11070179 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:10745 D RGD:5683627|PMID:21945716 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12595749 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000972 Fever ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21990073 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9003805 Catalepsy IMP D RGD:5683633|PMID:20508280 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69020 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9004992 Apnea ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10640309 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11853856 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9007001 Bradycardia ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2207497 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008023 Memory Disorders ISO RGD:69020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008394 Drug-Induced Dyskinesia IMP D RGD:5683628|PMID:21352823 20111129 RGD 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:7240710 20140911 OMIM 2845 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever PMID:21990073 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:10763 hypertension IEP D RGD:1626447|PMID:11882579 20070808 RGD protein:increased expression:aorta 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731005 D RGD:1358660|PMID:12556913 19990101 RGD 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:12849 autistic disorder ISO RGD:731005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:12995 conduct disorder ISO RGD:731005 D RGD:1358661|PMID:14714219 19990101 RGD associated with Alcoholism 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:2030 anxiety disorder IDA D RGD:625756|PMID:12040062 19990101 RGD 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:2468 psychotic disorder ISO RGD:731005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:326 ischemia IEP D RGD:1626445|PMID:12393100 20070808 RGD mRNA:increased expression:skeletal muscle 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:630 genetic disease ISO RGD:731005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:670 amphetamine abuse ISO RGD:731005 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10780831 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:1626451|PMID:17542534 20070808 RGD 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9000641 Pain IDA D RGD:1626470|PMID:16165284 20070809 RGD 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9001109 Anorexia IEP D RGD:1626473|PMID:15698923 20070809 RGD associated with Sarcoma;protein:increased expression:hypothalamus 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9603521|PMID:17509084 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9006024 Hypotension ISO RGD:731005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10746 D RGD:1626449|PMID:11739290 20070808 RGD 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9008675 Dyskinesias IDA D RGD:1626453|PMID:17452372 20070808 RGD 2846 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9970 obesity IEP D RGD:1626450|PMID:10564740 20070808 RGD protein:increase expression:arcuate nucleus 2847 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:10933 obsessive-compulsive disorder ISO RGD:736440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10621951 2847 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:12849 autistic disorder ISO RGD:736440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 2847 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:630 genetic disease ISO RGD:736440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2847 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:9006024 Hypotension ISO RGD:736440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 2847 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:0060001 withdrawal disorder ISO RGD:736842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17105947 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736842 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:10283 prostate cancer ISO RGD:736842 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:11476 osteoporosis ISO RGD:736842 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:11983 Prader-Willi syndrome ISS RGD:10748 D RGD:13592920 20180518 MouseDO OMIM:176270 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:12849 autistic disorder ISO RGD:736842 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:1470 major depressive disorder treatment IDA D RGD:1624993|PMID:16005997 20070516 RGD mRNA:increased editing 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:2030 anxiety disorder IDA D RGD:1625000|PMID:17074317 20070516 RGD 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:303 substance-related disorder IMP D RGD:2292548|PMID:16474401 20080422 RGD 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:3312 bipolar disorder ISO RGD:736842 D RGD:1358737|PMID:8823764 19990101 RGD DNA:missense mutation:cds:p.C23S (human) 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia ISO RGD:736842 D RGD:1358736|PMID:8742444 19990101 RGD DNA:missense mutation:cds:p.C23S (human) 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia ISO RGD:736842 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia treatment ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8742444|REF_RGD_ID:1358736 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:630 genetic disease ISO RGD:736842 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9000641 Pain IDA D RGD:1624996|PMID:17451674 20070516 RGD 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:1624998|PMID:17258772 20070516 RGD protein:increased expression:brainstem, cerebral cortex 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9002362 Hyperkinesis ISO RGD:736842 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19347958 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9004657 Weight Gain ISO RGD:736842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19434072|PMID:19997080 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9005968 Neuralgia ISO RGD:736842 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28011743 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9006646 Metabolic Syndrome ISO RGD:736842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632216|PMID:18515891|PMID:19142101 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9352 type 2 diabetes mellitus ISS RGD:10748 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity ISO RGD:736842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17702092|PMID:19142110 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:1624982|PMID:17016522 20070515 RGD associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple 2848 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:1624991|PMID:15048662 20070516 RGD DNA:polymorphism:promoter:-759C>T 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:0060224 atrial fibrillation ISO RGD:736061 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7886817 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:630 genetic disease ISO RGD:736061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:8689 anorexia nervosa ISS RGD:10750 D RGD:13592920 20180531 MouseDO 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9806222 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9001109 Anorexia ISO RGD:736061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15146954 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9002554 Tachycardia ISO RGD:736061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7886817 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736061 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2850 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9007096 Stroke ISO RGD:736061 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7886817 2851 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:0110875 holoprosencephaly 3 ISO RGD:735325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 2851 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:10283 prostate cancer ISO RGD:735325 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2851 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:12849 autistic disorder ISO RGD:735325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17203304 2851 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:12849 autistic disorder ISO RGD:735325 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2851 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:630 genetic disease ISO RGD:735325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2854 Iapp islet amyloid polypeptide gene DOID:10808 gastric ulcer ISO RGD:737044 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9286623 2854 Iapp islet amyloid polypeptide gene DOID:630 genetic disease ISO RGD:737044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2854 Iapp islet amyloid polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2854 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23793354 2854 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:2311446|PMID:19100955 20090918 RGD 2854 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:2313359|PMID:18641056 20090918 RGD 2854 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9686128|PMID:2441214 19990101 RGD protein:increased expression:pancreatic islet (human) 2854 Iapp islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:2313356|PMID:19190104 20090918 RGD 2854 Iapp islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:2313357|PMID:19033417 20090918 RGD protein:decreased expression:plasma 2855 Ibsp integrin-binding sialoprotein gene DOID:630 genetic disease ISO RGD:735575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2855 Ibsp integrin-binding sialoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735575 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 2855 Ibsp integrin-binding sialoprotein gene DOID:9000965 Neoplasm Metastasis ISO RGD:735575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22407340|PMID:24980816 2855 Ibsp integrin-binding sialoprotein gene DOID:9006081 Osteolysis ISO RGD:735575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 2855 Ibsp integrin-binding sialoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:735575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24980816 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:1625756|PMID:15638228 20070628 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:69659 D RGD:11354982|PMID:12598355 20160802 RGD proteion:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69659 D RGD:4145463|PMID:20004360 20101104 RGD protein:increased secretion:plasma (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0060180 colitis IEP D RGD:7207796|PMID:22261574 20130206 RGD protein:increased expression:colon: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:4145335|PMID:20950211 20101101 RGD protein:increased expression:pancreas, lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:69659 D RGD:8158124|PMID:14557478 20140211 RGD DNA:polymorphism: :c.1405A>G (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:10756 D RGD:11520783|PMID:10051478 20160803 RGD protein:increased expression:liver,bile duct: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0081292 traumatic brain injury ISO RGD:69659 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 2857 Icam1 intercellular adhesion molecule 1 gene DOID:0111151 Prinzmetal angina ISO RGD:69659 D RGD:8547713|PMID:9415270 20140220 RGD protein:increased expression:plasma 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10128 venous insufficiency susceptibility ISO RGD:69659 D RGD:11054206|PMID:25495610 20160802 RGD associated with Venous Thrombosis; 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:10756 D RGD:4145519|PMID:19056932 20101108 RGD protein:increased expression:bronchial epithelium (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:4145510|PMID:19714575 20101108 RGD associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:69659 D RGD:4145511|PMID:19536890 20101108 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10591 pre-eclampsia treatment IMP D RGD:8547718|PMID:21830843 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:69659 D RGD:1358664|PMID:12498973 19990101 RGD DNA:missense mutation:cds:p.K469E (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10754 otitis media ISO RGD:69659 D RGD:8547580|PMID:20926702 20140218 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:2312765|PMID:18619052 20090928 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10952 nephritis treatment IMP D RGD:8547716|PMID:8773354 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:69659 D RGD:8547586|PMID:8562031 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11054 urinary bladder cancer ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11204 allergic conjunctivitis ISO RGD:69659 D RGD:8547686|PMID:8766745 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11263 chlamydia ISO RGD:10756 D RGD:4145507|PMID:19728926 20101108 RGD mRNA:increased expression:lung (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:69659 D RGD:4145485|PMID:19858233 20101105 RGD protein:increased secretion:plasma (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11446 sciatic neuropathy IEP D RGD:8547739|PMID:20546684 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy IDA D RGD:2313473|PMID:18796303 20090928 RGD associated with Diabetes Mellitus, Experimental 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:10756 D RGD:2306988|PMID:18093596 20090928 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:2313469|PMID:19343356 20090928 RGD protein:decreased expression:placenta 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:2313476|PMID:17990298 20090928 RGD protein:increased expression:decidua, endothelial cell 2857 Icam1 intercellular adhesion molecule 1 gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:4145536|PMID:20601373 20101109 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:8158114|PMID:7524984 20140211 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:8547689|PMID:15587302 20140219 RGD associated with Giardiasis;protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:10756 D RGD:11520783|PMID:10051478 20160803 RGD associated with Graft vs Host Disease; 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:69659 D RGD:14402038|PMID:1347281 20190523 RGD protein:increased expression:hepatocyte 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease ISO RGD:69659 D RGD:8158121|PMID:12357047 20140211 RGD protein:increased expression:blood, lymphocyte 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease no_association ISO RGD:69659 D RGD:8547702|PMID:17873320 20140219 RGD DNA:SNP: :p.K469E (rs5498) (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease onset ISO RGD:69659 D RGD:8158124|PMID:14557478 20140211 RGD DNA:polymorphism: :c.721G>A (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria ISO RGD:69659 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria ISO RGD:69659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10417733|PMID:10699175|PMID:23609612|PMID:25741868|PMID:9259284|PMID:9861406 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria susceptibility ISO RGD:69659 D RGD:7240710 20190502 OMIM 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:10756 D RGD:8547589|PMID:17003484 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome IEP D RGD:4145493|PMID:19837405 20101105 RGD associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:10756 D RGD:4145440|PMID:20888423 20101104 RGD protein:increased expression:lung (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17425601 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:4140425|PMID:20209309 20101104 RGD protein:increased secretion:nasopharynx 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:10756 D RGD:8547696|PMID:15037117 20140219 RGD protein:increased expression:plasma 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69659 D RGD:8158122|PMID:11359451 20140211 RGD protein:increased expression:salivary gland 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:10756 D RGD:8547705|PMID:21589878 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:12986 leukostasis ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10485912 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13025 retinopathy of prematurity IEP D RGD:4145427|PMID:20368504 20101103 RGD mRNA:increased expression:retina (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13141 uveitis ISO RGD:69659 D RGD:8547585|PMID:9640197 20140218 RGD protein:altered expression:serum, vitreous humor 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13141 uveitis treatment IDA D RGD:8158119|PMID:7641842 20140211 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10756 D RGD:8547590|PMID:7743671 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8712863|PMID:12074830 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:8547575|PMID:11409120 20140218 RGD DNA:SNP:exon:p.R241G (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease no_association ISO RGD:69659 D RGD:8158123|PMID:10792421 20140211 RGD DNA:SNP:exon:p.R241G (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:69659 D RGD:8158115|PMID:12808331 20140211 RGD DNA:polymorphism: :p.K469E (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13252 mesenteric vascular occlusion treatment IMP D RGD:11522711|PMID:7858885 20160804 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 2857 Icam1 intercellular adhesion molecule 1 gene DOID:13608 biliary atresia susceptibility ISO RGD:69659 D RGD:14402043|PMID:18401716 20190528 RGD DNA:missense mutation:cds:p.G241R (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1586 rheumatic fever ISO RGD:69659 D RGD:13702910|PMID:14567831 20180724 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1612 breast cancer ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:69659 D RGD:2325165|PMID:11815996 20100521 RGD mRNA, protein:increased expression:pancreas 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1909 melanoma disease_progression ISO RGD:69659 D RGD:8547584|PMID:8599446 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 2857 Icam1 intercellular adhesion molecule 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:8547729|PMID:22379785 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2316 brain ischemia ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:19417757 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:69659 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2394 ovarian cancer ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2527 nephrosis ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2723 dermatitis treatment ISO RGD:10756 D RGD:8547708|PMID:9366707 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2773 contact dermatitis ISO RGD:10756 D RGD:5685684|PMID:20182448 20120116 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:69659 D RGD:4145518|PMID:19218648 20101108 RGD protein:increased expression:lung, alveolar macrophage (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma IEP D RGD:4145331|PMID:20953388 20101101 RGD protein:increased expression:lung, serum (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:10756 D RGD:4145444|PMID:20400685 20101104 RGD mRNA:increased expression:aorta (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17014439|PMID:25003170 2857 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:4145509|PMID:20205697 20101108 RGD protein:increased secretion:lung (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3021 acute kidney failure treatment IEP D RGD:7175102|PMID:22659586 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10756 D RGD:4145522|PMID:18794286 20101108 RGD protein:decreased expression:airway epithelium (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:4145446|PMID:20395558 20101104 RGD mRNA:increased expression:airway epithelial cell (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3454 brain infarction ISO RGD:69659 D RGD:2313474|PMID:18692933 20090928 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3526 cerebral infarction IEP D RGD:8547724|PMID:20083630 20140220 RGD mRNA, protein:increased expression:cerebral cortex 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:4145516|PMID:19254480 20101108 RGD protein:increased expression:lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3904 bronchus carcinoma ISO RGD:69659 D RGD:4145523|PMID:18764914 20101108 RGD protein:increased secretion:lung (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69659 D RGD:4145465|PMID:19949019 20101105 RGD progression-free survival; protein:increased secretion:serum (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:69659 D RGD:8158120|PMID:18759276 20140211 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:69659 D RGD:8547576|PMID:1371389 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma disease_progression ISO RGD:69659 D RGD:8547587|PMID:8099861 20140218 RGD protein:increased expression:blood 2857 Icam1 intercellular adhesion molecule 1 gene DOID:4195 hyperglycemia IEP D RGD:4145407|PMID:20495289 20101103 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:4676 uremia ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 2857 Icam1 intercellular adhesion molecule 1 gene DOID:4724 brain edema IEP D RGD:4145390|PMID:20570121 20101102 RGD associated with Reperfusion Injury; protein:increased expression:brain (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:69659 D RGD:2325163|PMID:12923961 20100521 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis treatment IEP D RGD:8547728|PMID:23125085 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69659 D RGD:14402042|PMID:18233990 20190528 RGD associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:5199 ureteral obstruction IEP D RGD:11522713|PMID:10930117 20160804 RGD protein:increased expression:renal endothelium, epithelium, interstitium 2857 Icam1 intercellular adhesion molecule 1 gene DOID:552 pneumonia treatment IEP D RGD:8547727|PMID:22882462 20140220 RGD associated with Reperfusion Injury 2857 Icam1 intercellular adhesion molecule 1 gene DOID:5679 retinal disease ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 2857 Icam1 intercellular adhesion molecule 1 gene DOID:574 peripheral nervous system disease ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 2857 Icam1 intercellular adhesion molecule 1 gene DOID:576 proteinuria IEP D RGD:8547734|PMID:22681549 20140220 RGD associated with Hypertension;mRNA, protein:increased expression:kidney 2857 Icam1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 2857 Icam1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction treatment IEP D RGD:8547733|PMID:23139358 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:69659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2857 Icam1 intercellular adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:69659 D RGD:4145436|PMID:21034646 20101104 RGD associated with Heart Defects, Congenital; protein:increased secretion:serum (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:69659 D RGD:11056752|PMID:26109813 20190523 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:783 end stage renal disease IEP D RGD:4145364|PMID:20820841 20101102 RGD protein:increased expression:kidney (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:10756 D RGD:13702908|PMID:22268115 20180724 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:69659 D RGD:13702915|PMID:9556870 20180724 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8472 localized scleroderma ISO RGD:69659 D RGD:8158116|PMID:7916356 20140211 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:69659 D RGD:13702907|PMID:22987107 20180724 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8506 bullous pemphigoid ISO RGD:69659 D RGD:8547591|PMID:1377725 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8549 chronic ulcer of skin ISO RGD:69659 D RGD:8547587|PMID:8099861 20140218 RGD associated with Scleroderma, Systemic;protein:increased expression:blood 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis IEP D RGD:4145388|PMID:20584104 20101102 RGD mRNA:increased expression:substantia nigra (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:69659 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 2857 Icam1 intercellular adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:10756 D RGD:4145490|PMID:19846873 20101105 RGD protein:increased expression:lung (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:69659 D RGD:1625756|PMID:15638228 20070628 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis severity ISO RGD:69659 D RGD:8547688|PMID:8094011 20140219 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis treatment ISO RGD:69659 D RGD:8158118|PMID:2015706 20140211 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis treatment ISO RGD:69659 D RGD:8547579|PMID:16181457 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:69659 D RGD:8547698|PMID:16313300 20140219 RGD DNA:missense mutation:exon:p.R241G (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10485912 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:2313471|PMID:18942221 20090928 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:2313472|PMID:18834676 20090928 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy treatment IEP D RGD:11354984|PMID:25066112 20160802 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:11522712|PMID:8627308 20160804 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69659 D RGD:8547712|PMID:21590495 20140220 RGD associated with Breast Neoplasms 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000099 Experimental Colitis treatment IMP D RGD:11522714|PMID:10092309 20160804 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000310 Lung Injury treatment ISO RGD:10756 D RGD:11354979|PMID:24891762 20160802 RGD associated with Bacteremia; 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:4145368|PMID:20731855 20101102 RGD mRNA:increased expression:lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis ISO RGD:10756 D RGD:13702912|PMID:11156888 20180724 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10756 D RGD:13702913|PMID:11092674 20180724 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000656 Penetrating Wounds IEP D RGD:4145377|PMID:20638379 20101102 RGD mRNA:increased expression:granulation tissue (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:10756 D RGD:14402037|PMID:21695461 20190523 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17014439 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000774 Brain Death IEP D RGD:4145365|PMID:20810760 20101102 RGD mRNA:increased expression:lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000784 Fibrosis IEP D RGD:8547732|PMID:22844569 20140220 RGD mRNA, protein:increased expression:pancreas 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:2325163|PMID:12923961 20100521 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:8547593|PMID:10465581 20140218 RGD associated with Melanoma, Cutaneous Malignant 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9000998 Brain Injuries IEP D RGD:11522716|PMID:16230799 20160804 RGD protein:increased expression:brain: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001044 Choroidal Neovascularization IEP D RGD:4145405|PMID:20497436 20101103 RGD mRNA:increased expression:retina, choroid, sclera (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001472 Nasal Polyps ISO RGD:69659 D RGD:8547687|PMID:11593541 20140219 RGD protein:increased expression:nasal cavity epithelium 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:10756 D RGD:4145497|PMID:19828841 20101105 RGD mRNA, protein:increased expression:lung (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:8547707|PMID:15007035 20140219 RGD associated with Hypertension 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury treatment IMP D RGD:8547704|PMID:10235552 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:14402044|PMID:8780571 20190528 RGD associated with Intestinal Reperfusion Injury;protein:increased expression:liver 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:11520784|PMID:7884306 20160803 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies IDA D RGD:2313470|PMID:19246972 20090928 RGD associated with Diabetes Mellitus, Experimental 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10756 D RGD:4145414|PMID:20447389 20101103 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:2312766|PMID:18299691 20090928 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:2313475|PMID:18505543 20090928 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:69659 D RGD:11354983|PMID:7658704 20160802 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:13702911|PMID:11701617 20180724 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10756 D RGD:8547692|PMID:8093459 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure IEP D RGD:4145375|PMID:20646933 20101102 RGD protein:increased secretion:serum (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:10756 D RGD:4145501|PMID:19819333 20101105 RGD protein:increased expression:pancreas, intestine (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002910 Hearing Loss, Noise-Induced IMP D RGD:8547577|PMID:19213042 20140218 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7902311|PMID:16497620 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10756 D RGD:4145464|PMID:19968652 20101104 RGD protein:increased expression:lung, endothelium (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69659 D RGD:4145520|PMID:19047814 20101108 RGD protein:increased secretion:nasopharynx (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9003709 Mercury Poisoning IEP D RGD:4145621|PMID:20508868 20101110 RGD protein:increased secretion:serum (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11557319|PMID:23743330 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9004484 Sepsis IEP D RGD:4145409|PMID:20451670 20101103 RGD mRNA:increased expression:brain (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69659 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:17973899|PMID:27525872 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:8547719|PMID:20569121 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9004898 Jaundice IEP D RGD:4145521|PMID:19034056 20101108 RGD protein:increased expression:lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005036 Bacteremia ISO RGD:10756 D RGD:11354979|PMID:24891762 20160802 RGD mRNA:increased expression:lung,thymus,spleen: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation IEP D RGD:4145328|PMID:20980457 20101101 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:10756 D RGD:8547696|PMID:15037117 20140219 RGD associated with Sjogren's Syndrome 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842|PMID:23371441 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment IDA D RGD:4145532|PMID:20600813 20200626 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:10756 D RGD:13702909|PMID:21658725 20180724 RGD associated with myocardial infarction 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005396 Intimal Hyperplasia treatment IMP D RGD:11520787|PMID:9118520 20160803 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306987|PMID:18413153 20090928 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10756 D RGD:2306988|PMID:18093596 20090928 RGD mRNA:increased expression:aorta 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:20388520|PMID:24513509 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:8547703|PMID:20136425 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10756 D RGD:8158117|PMID:8100190 20140211 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9005930 Endotoxemia IEP D RGD:4145502|PMID:19776691 20101105 RGD protein:increased expression:lung (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:4145429|PMID:20368503 20101103 RGD mRNA:increased expression:carotid artery (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment IMP D RGD:8547706|PMID:7909311 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69659 D RGD:2313467|PMID:19394054 20090928 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction treatment IMP D RGD:11520779|PMID:10666412 20160803 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction treatment IMP D RGD:8547722|PMID:22617707 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:7240537|PMID:22503847 20140220 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10756 D RGD:8547701|PMID:9916118 20140219 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke treatment IMP D RGD:11522710|PMID:10066862 20160804 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007156 Enteritis IEP D RGD:4145336|PMID:20885979 20101101 RGD mRNA:increased expression:intestinal mucosa (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007355 Hashimoto Disease ISO RGD:69659 D RGD:8547592|PMID:7626551 20140218 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24069166 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007480 Hyperoxia ISO RGD:10756 D RGD:4145449|PMID:20237791 20101104 RGD protein:increased expression:lung (mouse) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment IEP D RGD:10402063|PMID:23706497 20160803 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment IMP D RGD:11520782|PMID:10201790 20160803 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007651 Chronic Bronchitis IEP D RGD:2308951|PMID:19507274 20101108 RGD protein:increased expression:bronchial epithelium (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:1625753|PMID:11782876 20070628 RGD associated with Obesity;protein:increased secretion:plasma (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:2313467|PMID:19394054 20090928 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:11522715|PMID:12095141 20160804 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:4145348|PMID:20851484 20101101 RGD protein:increased expression:heart (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:69659 D RGD:4145459|PMID:20128420 20101104 RGD protein:increased secretion:nasopharynx, secretion (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9008691 Liver Injury treatment IEP D RGD:14402036|PMID:26586701 20190523 RGD associated with acute pancreatitis 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12759764|PMID:17245593 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:10756 D RGD:13702914|PMID:9822282 20180724 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:69659 D RGD:13703027|PMID:9205546 20180725 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9279 hyperhomocysteinemia IEP D RGD:4144131|PMID:20871618 20101101 RGD protein:increased expression:descending aorta, endothelial cells (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9351 diabetes mellitus ISO RGD:69659 D RGD:2313467|PMID:19394054 20090928 RGD protein:increased expression:serum 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4145422|PMID:20388520 20101103 RGD mRNA, protein:increased expression:aorta (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:2312766|PMID:18299691 20090928 RGD protein:increased expression:plasma 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9383 iridocyclitis ISO RGD:69659 D RGD:8547694|PMID:20445114 20140219 RGD DNA:SNP:exon:p.R241G (human) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma ISO RGD:69659 D RGD:11520780|PMID:7686390 20160803 RGD protein:increased expression:serum: 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma treatment ISO RGD:69659 D RGD:11354981|PMID:7834632 20160802 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9563 bronchiectasis ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:69659 D RGD:8547581|PMID:10413701 20140218 RGD associated with Retinal Detachment;protein:increased expression:vitreous humor 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69659 D RGD:2313468|PMID:19373518 20090928 RGD protein:increased expression:plasma 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69659 D RGD:1625758|PMID:16978373 20070628 RGD 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity IEP D RGD:4145329|PMID:20973827 20101101 RGD protein:increased expression:submandibular gland (rat) 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 2857 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:4145463|PMID:20004360 20101104 RGD protein:increased secretion:plasma (human) 2858 Id1 inhibitor of DNA binding 1 gene DOID:13580 cholestasis IEP D RGD:9686088|PMID:16628634 20150130 RGD protein:increased expression:liver, nucleus (rat) 2858 Id1 inhibitor of DNA binding 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:736819 D RGD:9686087|PMID:20522807 20150130 RGD protein:decreased expression:lung, wall of arteriole (human) 2858 Id1 inhibitor of DNA binding 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16966095 2858 Id1 inhibitor of DNA binding 1 gene DOID:1686 glaucoma ISO RGD:736819 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 2858 Id1 inhibitor of DNA binding 1 gene DOID:630 genetic disease ISO RGD:736819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2858 Id1 inhibitor of DNA binding 1 gene DOID:6432 pulmonary hypertension IDA D RGD:9686087|PMID:20522807 20150130 RGD 2858 Id1 inhibitor of DNA binding 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9686138|PMID:11746449 20150203 RGD mRNA:increased expression:spinal cord (rat) 2858 Id1 inhibitor of DNA binding 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736819 D RGD:11554173 20200805 CTD CTD Direct Evidence: therapeutic PMID:24910342 2858 Id1 inhibitor of DNA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 2858 Id1 inhibitor of DNA binding 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2858 Id1 inhibitor of DNA binding 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2858 Id1 inhibitor of DNA binding 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 2859 Id2 inhibitor of DNA binding 2 gene DOID:37 skin disease ISO RGD:732001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2859 Id2 inhibitor of DNA binding 2 gene DOID:50 thyroid gland disease ISO RGD:732001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 2859 Id2 inhibitor of DNA binding 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 2859 Id2 inhibitor of DNA binding 2 gene DOID:630 genetic disease ISO RGD:732001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2859 Id2 inhibitor of DNA binding 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9686138|PMID:11746449 20150203 RGD mRNA:increased expression:spinal cord (rat) 2859 Id2 inhibitor of DNA binding 2 gene DOID:9000352 Vascular System Injuries IEP D RGD:619536|PMID:11706002 20110720 RGD protein:increased expression:carotid artery, blood vessel wall (rat) 2859 Id2 inhibitor of DNA binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732001 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17127702 2859 Id2 inhibitor of DNA binding 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2859 Id2 inhibitor of DNA binding 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 2860 Id3 inhibitor of DNA binding 3 gene DOID:12894 Sjogren's syndrome ISS RGD:1553777 D RGD:13592920 20180518 MouseDO OMIM:270150 2860 Id3 inhibitor of DNA binding 3 gene DOID:299 adenocarcinoma ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 2860 Id3 inhibitor of DNA binding 3 gene DOID:305 carcinoma ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2860 Id3 inhibitor of DNA binding 3 gene DOID:50 thyroid gland disease ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 2860 Id3 inhibitor of DNA binding 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734069 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2860 Id3 inhibitor of DNA binding 3 gene DOID:630 genetic disease ISO RGD:734069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2860 Id3 inhibitor of DNA binding 3 gene DOID:8584 Burkitt lymphoma ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143595|PMID:23143597 2860 Id3 inhibitor of DNA binding 3 gene DOID:863 nervous system disease ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 2860 Id3 inhibitor of DNA binding 3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9686138|PMID:11746449 20150203 RGD mRNA:increased expression:spinal cord (rat) 2860 Id3 inhibitor of DNA binding 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2860 Id3 inhibitor of DNA binding 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2860 Id3 inhibitor of DNA binding 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2860 Id3 inhibitor of DNA binding 3 gene DOID:9004009 Reperfusion Injury ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2860 Id3 inhibitor of DNA binding 3 gene DOID:9005172 Lung Neoplasms ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 2860 Id3 inhibitor of DNA binding 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2860 Id3 inhibitor of DNA binding 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:734069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 2860 Id3 inhibitor of DNA binding 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:734069 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2861 Ide insulin degrading enzyme gene DOID:0050850 diabetic encephalopathy ISO RGD:732801 D RGD:13792796|PMID:27306699 20180928 RGD associated with type 2 diabetes mellitus 2861 Ide insulin degrading enzyme gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:13792804|PMID:26576191 20180928 RGD 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:13792798|PMID:26963025 20180928 RGD protein:decreased expression:cerebrospinal fluid 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:13792824|PMID:28164769 20181002 RGD 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732802 D RGD:737718|PMID:12634421 19990101 RGD 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment IDA D RGD:13792792|PMID:28553348 20180928 RGD 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13792793|PMID:28447730 20180928 RGD associated with Insulin Resistance 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13792800|PMID:29948724 20180928 RGD 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13792829|PMID:28157092 20181002 RGD 2861 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:732802 D RGD:13792790|PMID:30224067 20180928 RGD 2861 Ide insulin degrading enzyme gene DOID:630 genetic disease ISO RGD:732801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2861 Ide insulin degrading enzyme gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:732802 D RGD:13792826|PMID:27102787 20181002 RGD associated with obesity 2861 Ide insulin degrading enzyme gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13792791|PMID:29940507 20180928 RGD protein:decreased expression:cerebral cortex 2861 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus IAGP D RGD:737717|PMID:10958757 20150320 RGD DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) 2861 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732801 D RGD:1626697|PMID:12765971 20070820 RGD DNA:SNPs, haplotype: :rs2209972, rs1887922 (human) 2861 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732802 D RGD:737718|PMID:12634421 20110616 RGD 2861 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732801 D RGD:1626698|PMID:16380485 20070820 RGD 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050902 medulloblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:737145 D RGD:11522722|PMID:24936872 20160804 RGD DNA:mutation: : 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060058 lymphoma ISO RGD:737145 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Lymphoma 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060221 Maffucci syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE PMID:19657110|PMID:20946881|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080600 COVID-19 ISO RGD:737145 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737145 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:25741868|PMID:34298581 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:1909 melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dyschondroplasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:255 hemangioma ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2602 chondroma ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:737145 D RGD:11074562|PMID:25495392 20160805 RGD DNA:mutation:cds:p.R132(human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma onset ISO RGD:737145 D RGD:11522732|PMID:19765000 20160805 RGD DNA:mutation:cds:p.R132H(human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma ISO RGD:737145 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:19901110|PMID:25391653|PMID:25848751|PMID:26618343|PMID:28122345 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:737145 D RGD:7240710 20190502 OMIM 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3181 oligodendroglioma ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20160062 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3181 oligodendroglioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodendroglioma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737145 D RGD:149735540|PMID:24046070 20210722 RGD protein:increased expression:blood plasma (human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:149735539|PMID:29537891 20210721 RGD mRNA:increased expression:lung (human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:149735540|PMID:24046070 20210722 RGD protein:increased expression:blood plasma (human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:417 autoimmune disease ISO RGD:737145 D RGD:14974230|PMID:31121195 20190920 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4624 Ollier disease ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:22057236 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4624 Ollier disease ISO RGD:737145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome | ClinVar Annotator: match by term: Multiple enchondromatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:24728327|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4928 intrahepatic cholangiocarcinoma no_association ISO RGD:737145 D RGD:14974229|PMID:26245674 20190920 RGD DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:14974227|PMID:28403884 20190919 RGD DNA:misssense mutation:cds:p.Arg132Cys(human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:14974228|PMID:25355558 20190919 RGD DNA:polymorphism: :rs12478635(human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:630 genetic disease ISO RGD:737145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:6536 plasma cell neoplasm ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:8923 skin melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737145 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9003571 Paraproteinemias ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737145 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004590 Acute Liver Failure ISO RGD:737145 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:737145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9005837 Cholangiofibrosis severity ISO RGD:737145 D RGD:14974230|PMID:31121195 20190920 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain neoplasm PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737145 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:25324972|PMID:27992414 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:29950729|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:11522718|PMID:20368543 20160804 RGD DNA:mutation:cds:p.R132(human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:11522721|PMID:25324972 20160804 RGD DNA:SNP::105C>T (rs11554137)(human) 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9538 multiple myeloma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737145 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 2862 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9970 obesity ISO RGD:10758 D RGD:1626475|PMID:14969338 20070809 RGD 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050800 creatine transporter deficiency ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:731354 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:731354 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12835 quadriplegia ISO RGD:731354 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia PMID:25741868 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:731354 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:13628 favism ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:607 paraplegia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:731354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2863 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:731354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2865 Ifnb1 interferon beta 1 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1552719 D RGD:40902819|PMID:15670795 20201210 RGD 2865 Ifnb1 interferon beta 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:736615 D RGD:11554173 20200317 CTD CTD Direct Evidence: therapeutic PMID:24323636 2865 Ifnb1 interferon beta 1 gene DOID:0080600 COVID-19 treatment ISO RGD:736615 D RGD:30296675|PMID:32401715 20200616 RGD 2865 Ifnb1 interferon beta 1 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1552719 D RGD:30309198|PMID:30626685 20200618 RGD 2865 Ifnb1 interferon beta 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:736615 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 2865 Ifnb1 interferon beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:736615 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:2297754 2865 Ifnb1 interferon beta 1 gene DOID:1909 melanoma ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16928243|PMID:21846298 2865 Ifnb1 interferon beta 1 gene DOID:2043 hepatitis B ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15994231 2865 Ifnb1 interferon beta 1 gene DOID:2377 multiple sclerosis ISO RGD:736615 D RGD:11554173 20171010 CTD CTD Direct Evidence: therapeutic PMID:10520943|PMID:12424511|PMID:12432978|PMID:23517930|PMID:27806875 2865 Ifnb1 interferon beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736615 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:2297754 2865 Ifnb1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:736615 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15200845|PMID:26861016 2865 Ifnb1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1552719 D RGD:32716426|PMID:32553273 20200630 RGD 2865 Ifnb1 interferon beta 1 gene DOID:4359 amelanotic melanoma ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15990972 2865 Ifnb1 interferon beta 1 gene DOID:4551 anus benign neoplasm ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12170190|PMID:12397731 2865 Ifnb1 interferon beta 1 gene DOID:5419 schizophrenia ISO RGD:736615 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2865 Ifnb1 interferon beta 1 gene DOID:630 genetic disease ISO RGD:736615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2865 Ifnb1 interferon beta 1 gene DOID:769 neuroblastoma ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16115947 2865 Ifnb1 interferon beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736615 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:2297754 2865 Ifnb1 interferon beta 1 gene DOID:9004118 Experimental Melanoma ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16417267 2865 Ifnb1 interferon beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18608205 2865 Ifnb1 interferon beta 1 gene DOID:936 brain disease ISO RGD:736615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8615598 2866 Ifng interferon gamma gene DOID:0040084 Streptococcus pneumonia ISO RGD:737488 D RGD:40818252|PMID:21887255 20201115 RGD protein:increased expression:lung,natural killer cell (mouse) 2866 Ifng interferon gamma gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 2866 Ifng interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 2866 Ifng interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma treatment ISO RGD:737488 D RGD:10755707|PMID:8800741 20160203 RGD 2866 Ifng interferon gamma gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:737488 D RGD:14975125|PMID:31062617 20190927 RGD 2866 Ifng interferon gamma gene DOID:0050700 cardiomyopathy ISS RGD:737488 D RGD:13592920 20180518 MouseDO 2866 Ifng interferon gamma gene DOID:0050855 renal fibrosis no_association IDA D RGD:10755751|PMID:8289579 20160205 RGD 2866 Ifng interferon gamma gene DOID:0050855 renal fibrosis treatment IDA D RGD:10755746|PMID:10594787 20160204 RGD 2866 Ifng interferon gamma gene DOID:0050865 tongue squamous cell carcinoma disease_progression IEP D RGD:8662972|PMID:17338814 20140701 RGD protein:decreased expression:serum: 2866 Ifng interferon gamma gene DOID:0050902 medulloblastoma ISS RGD:737488 D RGD:13592920 20180518 MouseDO OMIM:155255 2866 Ifng interferon gamma gene DOID:0060180 colitis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 2866 Ifng interferon gamma gene DOID:0060180 colitis ISO RGD:737488 D RGD:150573704|PMID:16717119 20220110 RGD 2866 Ifng interferon gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 2866 Ifng interferon gamma gene DOID:0060319 cardiac arrest ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 2866 Ifng interferon gamma gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 2866 Ifng interferon gamma gene DOID:0080074 neural tube defect ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17075842 2866 Ifng interferon gamma gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737488 D RGD:8157603|PMID:12162877 20140203 RGD 2866 Ifng interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 2866 Ifng interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:14974252|PMID:29925830 20190923 RGD protein:increased processing:kidney 2866 Ifng interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:6893369|PMID:22764573 20120823 RGD protein:increased expression:serum,urine 2866 Ifng interferon gamma gene DOID:0080199 colorectal carcinoma ISO RGD:737488 D RGD:150573704|PMID:16717119 20220110 RGD 2866 Ifng interferon gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:737487 D RGD:7240710 20131030 OMIM 2866 Ifng interferon gamma gene DOID:0080545 hyper IgE syndrome ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16112032 2866 Ifng interferon gamma gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:737488 D RGD:127285675|PMID:28100771 20210628 RGD 2866 Ifng interferon gamma gene DOID:0080599 Coronavirus infectious disease ISO RGD:737488 D RGD:4891446|PMID:19906920 20200617 RGD 2866 Ifng interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 2866 Ifng interferon gamma gene DOID:0080600 COVID-19 severity ISO RGD:737487 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2866 Ifng interferon gamma gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737488 D RGD:30309958|PMID:30634407 20200623 RGD 2866 Ifng interferon gamma gene DOID:0080745 polymyositis ISO RGD:737487 D RGD:7794747|PMID:19953283 20140124 RGD mRNA:increased expression:skeletal muscle 2866 Ifng interferon gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:737487 D RGD:7794734|PMID:8444271 20140108 RGD 2866 Ifng interferon gamma gene DOID:0081267 graft-versus-host disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 2866 Ifng interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:10755684|PMID:16409297 20160203 RGD DNA:repeats:intron: 2866 Ifng interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:10755687|PMID:19747638 20160203 RGD associated with Cytomegalovirus Infections; DNA:repeats:intron: 2866 Ifng interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:7240710 20200812 OMIM 2866 Ifng interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 69 PMID:24033266|PMID:25741868|PMID:32163377 2866 Ifng interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:7987908|PMID:15937357 20140129 RGD 2866 Ifng interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:8142347|PMID:19684145 20140130 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: 2866 Ifng interferon gamma gene DOID:10140 dry eye syndrome ISO RGD:737488 D RGD:8157601|PMID:17525184 20140203 RGD protein:increased expression:tear: 2866 Ifng interferon gamma gene DOID:10223 dermatomyositis ISO RGD:737487 D RGD:7794747|PMID:19953283 20140124 RGD mRNA:increased expression:skeletal muscle 2866 Ifng interferon gamma gene DOID:10457 Legionnaires' disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11349020 2866 Ifng interferon gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 2866 Ifng interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 2866 Ifng interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:14974259|PMID:26440733 20190923 RGD 2866 Ifng interferon gamma gene DOID:1074 kidney failure ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 2866 Ifng interferon gamma gene DOID:10754 otitis media ISO RGD:737487 D RGD:7987910|PMID:18266836 20140129 RGD associated with adenoidal hypertrophy; protein:decreased expression:T cell: 2866 Ifng interferon gamma gene DOID:10754 otitis media ISO RGD:737488 D RGD:8142343|PMID:16730398 20140130 RGD associated with Pneumococcal infections; 2866 Ifng interferon gamma gene DOID:10952 nephritis ISO RGD:737487 D RGD:6893461|PMID:22752353 20120829 RGD associated with bacterial infection;protein:increased expression:serum 2866 Ifng interferon gamma gene DOID:11054 urinary bladder cancer ISO RGD:737487 D RGD:6893349|PMID:22906662 20120823 RGD protein:decreased expression:serum 2866 Ifng interferon gamma gene DOID:11054 urinary bladder cancer treatment ISO RGD:737488 D RGD:8157619|PMID:11219496 20140204 RGD 2866 Ifng interferon gamma gene DOID:11077 brucellosis treatment ISO RGD:737487 D RGD:14974260|PMID:27916101 20190923 RGD 2866 Ifng interferon gamma gene DOID:11121 pulpitis IEP D RGD:10755771|PMID:12017181 20160205 RGD 2866 Ifng interferon gamma gene DOID:1115 sarcoma ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9794839 2866 Ifng interferon gamma gene DOID:11204 allergic conjunctivitis IDA D RGD:8142386|PMID:12234900 20140131 RGD 2866 Ifng interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:737488 D RGD:8142391|PMID:16123425 20140131 RGD 2866 Ifng interferon gamma gene DOID:11263 chlamydia ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 2866 Ifng interferon gamma gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:737487 D RGD:6893374|PMID:22613426 20120824 RGD protein:increased expression:serum 2866 Ifng interferon gamma gene DOID:11406 choroiditis ISO RGD:737488 D RGD:8157614|PMID:10227812 20140203 RGD 2866 Ifng interferon gamma gene DOID:11506 suppurative otitis media disease_progression ISO RGD:737487 D RGD:8142346|PMID:19640314 20140130 RGD 2866 Ifng interferon gamma gene DOID:11832 visual epilepsy IEP D RGD:10755768|PMID:19944569 20160205 RGD mRNA:increased expression:hippocampus: 2866 Ifng interferon gamma gene DOID:12030 panuveitis IEP D RGD:8142379|PMID:9797675 20140131 RGD protein:increased expression:iris neuron 2866 Ifng interferon gamma gene DOID:1205 allergic disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10886234|PMID:21625544 2866 Ifng interferon gamma gene DOID:12134 factor VIII deficiency treatment ISO RGD:737487 D RGD:11055683|PMID:25930091 20160427 RGD DNA:SNP: :+874 A>T (human) 2866 Ifng interferon gamma gene DOID:12140 Chagas disease IDA D RGD:10755744|PMID:10684988 20160204 RGD 2866 Ifng interferon gamma gene DOID:12236 primary biliary cholangitis ISO RGD:737487 D RGD:38501106|PMID:17158635 20200818 RGD mRNA:increased expression:liver 2866 Ifng interferon gamma gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:737487 D RGD:8142356|PMID:21334264 20140130 RGD associated with uveitis;protein:increased expression:aqueous humor: 2866 Ifng interferon gamma gene DOID:12306 vitiligo onset ISO RGD:737487 D RGD:8157616|PMID:23777204 20140204 RGD DNA:polymorphism:intron:rs2430561(human) 2866 Ifng interferon gamma gene DOID:12306 vitiligo susceptibility ISO RGD:737487 D RGD:8157616|PMID:23777204 20140204 RGD DNA:repeats:intron:rs3138557(human) 2866 Ifng interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 2866 Ifng interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:8142373|PMID:2125901 20140131 RGD protein:increased expression:serum: 2866 Ifng interferon gamma gene DOID:12361 Graves' disease ISO RGD:737488 D RGD:8157604|PMID:15544617 20140203 RGD 2866 Ifng interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:8142372|PMID:9848715 20140131 RGD DNA:microsatellite repeats:intron: 2866 Ifng interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:8157599|PMID:16970687 20140203 RGD DNA:polymorphism:cds:+874A>T(human) 2866 Ifng interferon gamma gene DOID:12361 Graves' disease treatment ISO RGD:737487 D RGD:8142393|PMID:15068623 20140131 RGD DNA:repeats:intron: 2866 Ifng interferon gamma gene DOID:12365 malaria ISS RGD:737488 D RGD:13592920 20180518 MouseDO OMIM:609148 | OMIM:611162 2866 Ifng interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:7240710 20130221 OMIM 2866 Ifng interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Aplastic anemia 2866 Ifng interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:10755688|PMID:15327519 20160203 RGD DNA:repeats:intron: 2866 Ifng interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:10755710|PMID:18426658 20160203 RGD DNA:polymorphism: : 874A>T(human) 2866 Ifng interferon gamma gene DOID:12449 aplastic anemia treatment ISO RGD:737487 D RGD:10755690|PMID:20953611 20160203 RGD DNA:repeats,haplotype:intron: -2,353 A>T(human) 2866 Ifng interferon gamma gene DOID:1252 trichuriasis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 2866 Ifng interferon gamma gene DOID:12704 ataxia telangiectasia ISO RGD:737487 D RGD:8693328|PMID:6432389 20140710 RGD 2866 Ifng interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 2866 Ifng interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:8142352|PMID:19352211 20140130 RGD associated with Otitis media;protein:increased expression:serum: 2866 Ifng interferon gamma gene DOID:12849 autistic disorder ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 2866 Ifng interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737487 D RGD:14975117|PMID:28421993 20190926 RGD 2866 Ifng interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737488 D RGD:8142390|PMID:15584966 20140131 RGD 2866 Ifng interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:14974251|PMID:29534057 20190923 RGD associated with Behcet's disease 2866 Ifng interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:7365086|PMID:10865312 20180201 RGD protein:increased expression:aqueous humor,serum 2866 Ifng interferon gamma gene DOID:13141 uveitis ISO RGD:737488 D RGD:8142394|PMID:15875359 20140131 RGD 2866 Ifng interferon gamma gene DOID:13141 uveitis treatment ISO RGD:737488 D RGD:8142394|PMID:15875359 20140131 RGD 2866 Ifng interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:8142356|PMID:21334264 20140130 RGD associated with Uveitis; protein:increased expression:aqueous humor: 2866 Ifng interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:8142377|PMID:2154346 20140131 RGD protein:increased expression:serum: 2866 Ifng interferon gamma gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:737488 D RGD:10755754|PMID:7935058 20160204 RGD mRNA:increased expression:lung: 2866 Ifng interferon gamma gene DOID:13375 temporal arteritis severity ISO RGD:737487 D RGD:8157621|PMID:15675129 20140204 RGD DNA:repeats:intron: 2866 Ifng interferon gamma gene DOID:13515 tuberous sclerosis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16845661 2866 Ifng interferon gamma gene DOID:13636 Fanconi anemia ISO RGD:737487 D RGD:11049161|PMID:24021704 20160405 RGD protein:increased expression:plasma 2866 Ifng interferon gamma gene DOID:1407 anterior uveitis ISO RGD:737488 D RGD:8157614|PMID:10227812 20140203 RGD 2866 Ifng interferon gamma gene DOID:14115 toxic shock syndrome ISO RGD:737487 D RGD:38455982|PMID:25403265 20200806 RGD protein:increased expression:plasma 2866 Ifng interferon gamma gene DOID:14176 selective IgG deficiency disease ISO RGD:737487 D RGD:10755693|PMID:9042436 20160203 RGD mRNA:decreased expression:peripheral blood leukocyte: 2866 Ifng interferon gamma gene DOID:14566 disease of cellular proliferation ISO RGD:737488 D RGD:5686773|PMID:21537082 20120126 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 2866 Ifng interferon gamma gene DOID:1459 hypothyroidism treatment IEP D RGD:38549578|PMID:29896255 20200902 RGD 2866 Ifng interferon gamma gene DOID:1532 pleural disease ISO RGD:737487 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 2866 Ifng interferon gamma gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 2866 Ifng interferon gamma gene DOID:1562 chromoblastomycosis treatment ISO RGD:737488 D RGD:14975102|PMID:29481557 20190926 RGD 2866 Ifng interferon gamma gene DOID:1579 respiratory system disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 2866 Ifng interferon gamma gene DOID:1612 breast cancer susceptibility ISO RGD:737487 D RGD:8157615|PMID:15900487 20140204 RGD DNA:repeats:intron: 2866 Ifng interferon gamma gene DOID:1790 malignant mesothelioma ISO RGD:737487 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2866 Ifng interferon gamma gene DOID:1793 pancreatic cancer ISO RGD:737487 D RGD:2317258|PMID:19152246 20100324 RGD protein:increased expression:plasma 2866 Ifng interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:40400745|PMID:17553896 20201109 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) 2866 Ifng interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:7240710 20230505 OMIM 2866 Ifng interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of PMID:17215375 2866 Ifng interferon gamma gene DOID:1884 viral hepatitis ISO RGD:737487 D RGD:38501106|PMID:17158635 20200818 RGD mRNA:increased expression:liver 2866 Ifng interferon gamma gene DOID:1909 melanoma ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9794839 2866 Ifng interferon gamma gene DOID:1936 atherosclerosis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9169506 2866 Ifng interferon gamma gene DOID:2043 hepatitis B ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15994231|PMID:20610715 2866 Ifng interferon gamma gene DOID:2048 autoimmune hepatitis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2866 Ifng interferon gamma gene DOID:2123 tularemia ISO RGD:737488 D RGD:14974256|PMID:26853540 20190923 RGD protein:increased expression:serum 2866 Ifng interferon gamma gene DOID:2237 hepatitis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 2866 Ifng interferon gamma gene DOID:2377 multiple sclerosis ISO RGD:737487 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 2866 Ifng interferon gamma gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737487 D RGD:1358738|PMID:9818947 19990101 RGD DNA:repeat:intron: (human) 2866 Ifng interferon gamma gene DOID:2556 relapsing polychondritis ISO RGD:737488 D RGD:6483833|PMID:17606507 20140130 RGD protein:increased expression:ear 2866 Ifng interferon gamma gene DOID:2799 bronchiolitis obliterans ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16137903 2866 Ifng interferon gamma gene DOID:2841 asthma ISO RGD:737487 D RGD:1331525|PMID:15118671 19990101 GAD 2866 Ifng interferon gamma gene DOID:2841 asthma ISO RGD:737487 D RGD:4145651|PMID:20817868 20110304 RGD protein:increased expression:sputum 2866 Ifng interferon gamma gene DOID:2841 asthma ISO RGD:737488 D RGD:5128479|PMID:19542437 20110304 RGD 2866 Ifng interferon gamma gene DOID:2841 asthma resistance ISO RGD:737488 D RGD:4145525|PMID:20953328 20110307 RGD 2866 Ifng interferon gamma gene DOID:2841 asthma treatment ISO RGD:737488 D RGD:10755706|PMID:12396623 20160203 RGD 2866 Ifng interferon gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737487 D RGD:11049178|PMID:15718915 20160405 RGD DNA:SNP: :874A>T (human) 2866 Ifng interferon gamma gene DOID:289 endometriosis ISO RGD:737487 D RGD:14974258|PMID:29477012 20190923 RGD mRNA:increased expression:colon 2866 Ifng interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 2866 Ifng interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:6893462|PMID:21546865 20120829 RGD associated with kidney transplantation;mRNA:increased expression:kidney 2866 Ifng interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737488 D RGD:6893377|PMID:22495297 20120824 RGD 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:32716396|PMID:17872527 20200629 RGD protein:increased expression:peripheral blood mononuclear cells (human) 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:32716397|PMID:19526193 20200629 RGD protein:increased expression:peripheral blood mononuclear cells (human) 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:32716398|PMID:16672072 20200629 RGD DNA:SNP:intron:+874A>T (rs2430561)(human) 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:32716399|PMID:15602737 20200629 RGD protein:increased expression:serum (human) 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:32716400|PMID:16781892 20200629 RGD protein:increased expression:peripheral blood mononuclear cells (human) 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:737487 D RGD:4891448|PMID:19258635 20200617 RGD DNA:polymorphism:cds:+874A>T(human) 2866 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:737487 D RGD:33769580|PMID:15865221 20200702 RGD 2866 Ifng interferon gamma gene DOID:3042 allergic contact dermatitis ISO RGD:737487 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:12484431|PMID:15347381 2866 Ifng interferon gamma gene DOID:3070 high grade glioma IDA D RGD:727266|PMID:10078962 20120920 RGD 2866 Ifng interferon gamma gene DOID:3265 chronic granulomatous disease ISO RGD:737487 D RGD:6893353|PMID:22883043 20120823 RGD 2866 Ifng interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:33274957 2866 Ifng interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:8157618|PMID:22101570 20140204 RGD 2866 Ifng interferon gamma gene DOID:3492 mixed connective tissue disease ISO RGD:737487 D RGD:8142347|PMID:19684145 20140130 RGD protein:increased expression:serum: 2866 Ifng interferon gamma gene DOID:3611 acute retinal necrosis syndrome ISO RGD:737487 D RGD:8142380|PMID:12928903 20140131 RGD associated with Herpes Zoster;protein:increased expression:vitreous humor: 2866 Ifng interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:7240710 20230505 OMIM 2866 Ifng interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against PMID:10663562|PMID:11053629|PMID:12788577|PMID:18414898 2866 Ifng interferon gamma gene DOID:417 autoimmune disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9647229|PMID:19077085 2866 Ifng interferon gamma gene DOID:418 systemic scleroderma treatment ISO RGD:737487 D RGD:8157622|PMID:1418004 20140204 RGD 2866 Ifng interferon gamma gene DOID:4481 allergic rhinitis treatment IDA D RGD:10755770|PMID:18510219 20160205 RGD 2866 Ifng interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:737487 D RGD:7829803|PMID:12787306 20140124 RGD associated with Asthma 2866 Ifng interferon gamma gene DOID:4692 endophthalmitis IEP D RGD:7829753|PMID:16544114 20140123 RGD protein:increased expression:vitreous: 2866 Ifng interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737487 D RGD:10755749|PMID:12389079 20160204 RGD 2866 Ifng interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737488 D RGD:6893452|PMID:21664391 20120829 RGD 2866 Ifng interferon gamma gene DOID:5199 ureteral obstruction IDA D RGD:6893456|PMID:21216449 20120829 RGD 2866 Ifng interferon gamma gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10202824 2866 Ifng interferon gamma gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737487 D RGD:7240710 20230505 OMIM 2866 Ifng interferon gamma gene DOID:530 eyelid disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17075842 2866 Ifng interferon gamma gene DOID:552 pneumonia ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2866 Ifng interferon gamma gene DOID:576 proteinuria ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 2866 Ifng interferon gamma gene DOID:5773 oral submucous fibrosis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 2866 Ifng interferon gamma gene DOID:6000 congestive heart failure ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:20938210 2866 Ifng interferon gamma gene DOID:6132 bronchitis resistance ISO RGD:737488 D RGD:4145525|PMID:20953328 20110307 RGD 2866 Ifng interferon gamma gene DOID:630 genetic disease ISO RGD:737487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2866 Ifng interferon gamma gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9612607 2866 Ifng interferon gamma gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737487 D RGD:8554872 20161025 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to PMID:12854077 2866 Ifng interferon gamma gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:737487 D RGD:8157598|PMID:11063842 20140203 RGD protein:increased expression:T cell: 2866 Ifng interferon gamma gene DOID:684 hepatocellular carcinoma ISO RGD:737488 D RGD:11344640|PMID:26569409 20210421 RGD mRNA:increased expression:liver (mouse) 2866 Ifng interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 2866 Ifng interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:synovial (human) 2866 Ifng interferon gamma gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737487 D RGD:8157623|PMID:1417133 20140204 RGD 2866 Ifng interferon gamma gene DOID:7188 autoimmune thyroiditis IEP D RGD:10755769|PMID:10560963 20160205 RGD mRNA:increased expression:thyroid: 2866 Ifng interferon gamma gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20201001 RGD protein:increased expression:serum (rat) 2866 Ifng interferon gamma gene DOID:813 septic arthritis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 2866 Ifng interferon gamma gene DOID:8283 peritonitis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19804847 2866 Ifng interferon gamma gene DOID:8283 peritonitis treatment ISO RGD:737488 D RGD:14974254|PMID:28593696 20190923 RGD 2866 Ifng interferon gamma gene DOID:83 cataract ISO RGD:737488 D RGD:8157612|PMID:8188461 20140203 RGD 2866 Ifng interferon gamma gene DOID:8337 appendicitis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 2866 Ifng interferon gamma gene DOID:850 lung disease ISO RGD:737487 D RGD:36947872|PMID:24292748 20200805 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: 2866 Ifng interferon gamma gene DOID:8692 myeloid leukemia treatment ISO RGD:737487 D RGD:10755686|PMID:20959405 20160203 RGD 2866 Ifng interferon gamma gene DOID:8704 genital herpes ISO RGD:737488 D RGD:8158034|PMID:10366565 20140205 RGD protein:increased expression:vaginal secretion: 2866 Ifng interferon gamma gene DOID:874 bacterial pneumonia severity ISO RGD:737488 D RGD:38501102|PMID:25398094 20200818 RGD 2866 Ifng interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 2866 Ifng interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:14974261|PMID:28070144 20190923 RGD 2866 Ifng interferon gamma gene DOID:9000099 Experimental Colitis IEP D RGD:10755756|PMID:15030379 20160204 RGD protein:increased expression:plasma: 2866 Ifng interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:737488 D RGD:14975101|PMID:27498708 20190926 RGD 2866 Ifng interferon gamma gene DOID:9000304 Manganese Poisoning ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 2866 Ifng interferon gamma gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737488 D RGD:13702913|PMID:11092674 20180724 RGD 2866 Ifng interferon gamma gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:737488 D RGD:10755766|PMID:9514301 20160205 RGD 2866 Ifng interferon gamma gene DOID:9000772 Bronchial Hyperreactivity IEP D RGD:10755761|PMID:8690457 20160204 RGD mRNA:increased expression:lung: 2866 Ifng interferon gamma gene DOID:9000855 Experimental Radiation Injuries ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 2866 Ifng interferon gamma gene DOID:9000972 Fever ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:3091246|PMID:18282668 2866 Ifng interferon gamma gene DOID:9001204 Dyspepsia treatment IEP D RGD:14975120|PMID:28854971 20190926 RGD 2866 Ifng interferon gamma gene DOID:9001415 Mycobacterium Infections IEP D RGD:2311490|PMID:19060451 20090720 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung 2866 Ifng interferon gamma gene DOID:9001455 Intestinal Helminthiasis ISO RGD:737488 D RGD:14974257|PMID:29950724 20190923 RGD 2866 Ifng interferon gamma gene DOID:9001472 Nasal Polyps ISO RGD:737487 D RGD:8158035|PMID:9149164 20140205 RGD protein:increased expression:nasal mucosa, tissue: 2866 Ifng interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12389079|PMID:15996030|PMID:16953842|PMID:17347453 2866 Ifng interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737488 D RGD:39939037|PMID:28465467 20201022 RGD protein:increased expression:serum (mouse) 2866 Ifng interferon gamma gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2311495|PMID:19439114 20090720 RGD protein:increased expression:plasma 2866 Ifng interferon gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:737488 D RGD:6893364|PMID:22286547 20120823 RGD mRNA, protein:increased expression:kidney, T cell 2866 Ifng interferon gamma gene DOID:9002170 Experimental Neoplasms ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15711825 2866 Ifng interferon gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:737487 D RGD:10755703|PMID:19757192 20160203 RGD DNA:polymorphism: :847A>T(human) 2866 Ifng interferon gamma gene DOID:9002315 Kidney Calculi ISO RGD:737488 D RGD:6893463|PMID:21514417 20120829 RGD associated with type 2 diabetes mellitus; mRNA:increased expression:kidney 2866 Ifng interferon gamma gene DOID:9002457 Experimental Arthritis IMP D RGD:2311498|PMID:12412757 20090720 RGD 2866 Ifng interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:22450443 2866 Ifng interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737488 D RGD:10755750|PMID:7774621 20160204 RGD 2866 Ifng interferon gamma gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737488 D RGD:8157617|PMID:3139020 20140204 RGD 2866 Ifng interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:737488 D RGD:7987912|PMID:15661899 20140129 RGD 2866 Ifng interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737488 D RGD:10755692|PMID:22896638 20160203 RGD 2866 Ifng interferon gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10866311 2866 Ifng interferon gamma gene DOID:9002955 Nerve Degeneration ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15153526|PMID:16307444|PMID:19457078 2866 Ifng interferon gamma gene DOID:9003566 Mesothelioma ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12768194 2866 Ifng interferon gamma gene DOID:9004009 Reperfusion Injury IEP D RGD:2308950|PMID:19514843 20090720 RGD protein:increased expression:plasma 2866 Ifng interferon gamma gene DOID:9004283 Transplant Rejection ISO RGD:737488 D RGD:7364833|PMID:22564629 20140627 RGD 2866 Ifng interferon gamma gene DOID:9004484 Sepsis IEP D RGD:14975121|PMID:27598601 20190926 RGD 2866 Ifng interferon gamma gene DOID:9004484 Sepsis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 2866 Ifng interferon gamma gene DOID:9004484 Sepsis treatment ISO RGD:737487 D RGD:14974250|PMID:28711488 20190923 RGD 2866 Ifng interferon gamma gene DOID:9004610 Acute Lung Injury IEP D RGD:6480432|PMID:21767135 20120321 RGD 2866 Ifng interferon gamma gene DOID:9004751 Nausea ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 2866 Ifng interferon gamma gene DOID:9005099 Salmonella Infections, Animal ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002714 2866 Ifng interferon gamma gene DOID:9005172 Lung Neoplasms ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7614408 2866 Ifng interferon gamma gene DOID:9005236 Drug Eruptions ISO RGD:737487 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 2866 Ifng interferon gamma gene DOID:9005372 Inflammation ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21937650|PMID:22617429|PMID:23164921 2866 Ifng interferon gamma gene DOID:9005372 Inflammation resistance ISO RGD:737488 D RGD:4145525|PMID:20953328 20110307 RGD 2866 Ifng interferon gamma gene DOID:9005474 Experimental Sarcoma treatment ISO RGD:737488 D RGD:10755752|PMID:2119881 20160204 RGD 2866 Ifng interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5147915|PMID:20213480 20120321 RGD protein:increased expression:retina 2866 Ifng interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 2866 Ifng interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737488 D RGD:2311492|PMID:18789669 20090720 RGD mRNA:increased expression:pancreas 2866 Ifng interferon gamma gene DOID:9005749 Necrosis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10903806|PMID:10909967 2866 Ifng interferon gamma gene DOID:9005930 Endotoxemia IEP D RGD:10755747|PMID:9195172 20160204 RGD protein:increased expression:serum: 2866 Ifng interferon gamma gene DOID:9006024 Hypotension ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 2866 Ifng interferon gamma gene DOID:9006190 Chronic Pancreatitis disease_progression IEP D RGD:10755767|PMID:11345142 20160205 RGD 2866 Ifng interferon gamma gene DOID:9006205 Animal Disease Models ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16845661 2866 Ifng interferon gamma gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737488 D RGD:14975115|PMID:28355607 20190926 RGD 2866 Ifng interferon gamma gene DOID:9006449 Chills ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 2866 Ifng interferon gamma gene DOID:9006635 Hyponatremia ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 2866 Ifng interferon gamma gene DOID:9006642 Experimental Autoimmune Uveoretinitis IEP D RGD:8142388|PMID:1572694 20140131 RGD mRNA,protein:increased expression:eye: 2866 Ifng interferon gamma gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737487 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 2866 Ifng interferon gamma gene DOID:9006941 Corneal Perforation ISO RGD:737488 D RGD:8157597|PMID:15832292 20140203 RGD mRNA,protein:increased expression:corneal 2866 Ifng interferon gamma gene DOID:9007096 Stroke ISO RGD:737487 D RGD:156430320|PMID:31465536 20230224 RGD mRNA:decreased expression:lymphocyte 2866 Ifng interferon gamma gene DOID:9007355 Hashimoto Disease severity ISO RGD:737487 D RGD:8142375|PMID:16820703 20140131 RGD DNA:polymorphism:cds:+874A>T(human) 2866 Ifng interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12153990|PMID:21245496 2866 Ifng interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737488 D RGD:14975100|PMID:30013034 20190926 RGD 2866 Ifng interferon gamma gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:737488 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 2866 Ifng interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:14974255|PMID:26684441 20190923 RGD 2866 Ifng interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:39939037|PMID:28465467 20201022 RGD protein:decreased expression:serum (human) 2866 Ifng interferon gamma gene DOID:9008207 Chronic Thyroiditis susceptibility ISO RGD:737487 D RGD:8157599|PMID:16970687 20140203 RGD DNA:polymorphism:cds:+874A>T(human) 2866 Ifng interferon gamma gene DOID:9008385 Vomiting ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 2866 Ifng interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737487 D RGD:7987911|PMID:16055981 20140129 RGD protein:decreased expression:serum: 2866 Ifng interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737488 D RGD:8142354|PMID:15938212 20140130 RGD protein:decreased expression:middle ear: 2866 Ifng interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 2866 Ifng interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737488 D RGD:14975099|PMID:29255076 20190926 RGD 2866 Ifng interferon gamma gene DOID:9008939 Breast Neoplasms ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 2866 Ifng interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:17218153 2866 Ifng interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:7829781|PMID:2145107 20140124 RGD 2866 Ifng interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:kidney (human) 2866 Ifng interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:6893373|PMID:22759859 20120824 RGD mRNA:increased expression:leukocyte,mononuclear 2866 Ifng interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737488 D RGD:14974252|PMID:29925830 20190923 RGD protein:increased expression:renal glomerulus 2866 Ifng interferon gamma gene DOID:9111 cutaneous leishmaniasis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8154019|PMID:9234779|PMID:20102417 2866 Ifng interferon gamma gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:737488 D RGD:40890273|PMID:27999013 20201208 RGD 2866 Ifng interferon gamma gene DOID:9123 eczema herpeticum ISO RGD:737487 D RGD:6480259|PMID:21458658 20140205 RGD mRNA,protein:decreased expression:peripheral mononuclear cell: 2866 Ifng interferon gamma gene DOID:9123 eczema herpeticum susceptibility ISO RGD:737487 D RGD:6480259|PMID:21458658 20140205 RGD DNA:haplotype:: 2866 Ifng interferon gamma gene DOID:9146 visceral leishmaniasis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1901333|PMID:7854095 2866 Ifng interferon gamma gene DOID:9146 visceral leishmaniasis treatment ISO RGD:737488 D RGD:40890273|PMID:27999013 20201208 RGD 2866 Ifng interferon gamma gene DOID:9146 visceral leishmaniasis treatment ISO RGD:737488 D RGD:8158041|PMID:3104456 20140205 RGD 2866 Ifng interferon gamma gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7854095 2866 Ifng interferon gamma gene DOID:9201 lichen planus ISO RGD:737488 D RGD:8157617|PMID:3139020 20140204 RGD 2866 Ifng interferon gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:737487 D RGD:2311491|PMID:18852529 20090720 RGD 2866 Ifng interferon gamma gene DOID:936 brain disease ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18282668 2866 Ifng interferon gamma gene DOID:9362 status asthmaticus resistance ISO RGD:737488 D RGD:4145651|PMID:20817868 20110307 RGD 2866 Ifng interferon gamma gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 2866 Ifng interferon gamma gene DOID:9620 vesicoureteral reflux ISO RGD:737487 D RGD:6893460|PMID:22906585 20120829 RGD DNA:polymorphism: : 874T>A (human) 2866 Ifng interferon gamma gene DOID:9743 diabetic neuropathy ISO RGD:737487 D RGD:2311489|PMID:19608431 20090720 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human) 2866 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus IMP D RGD:10755748|PMID:8977415 20160204 RGD 2866 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 2866 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:2311493|PMID:18644830 20090720 RGD 2866 Ifng interferon gamma gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737487 D RGD:10755691|PMID:21067287 20160203 RGD DNA:SNP: :rs2069727(human) 2866 Ifng interferon gamma gene DOID:9970 obesity IEP D RGD:2311494|PMID:19575934 20090720 RGD associated with Asthma;protein:increased expression:serum 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69163 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19409521 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69163 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:5419 schizophrenia ISO RGD:69163 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:630 genetic disease ISO RGD:69163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2867 Ifrd1 interferon-related developmental regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69163 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2868 Igf1 insulin-like growth factor 1 gene DOID:0050328 congenital hypothyroidism IEP D RGD:12910128|PMID:1718729 20170613 RGD protein:decreased expression:serum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:0050696 fetal alcohol spectrum disorder IEP D RGD:12904886|PMID:16909201 20170524 RGD mRNA:decreased expression:cerebellum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:70506 D RGD:1582623|PMID:16406300 20061129 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:0060180 colitis ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24782617 2868 Igf1 insulin-like growth factor 1 gene DOID:0080038 pycnodysostosis ISO RGD:70506 D RGD:8548826|PMID:11474477 20140321 RGD associated with Dwarfism; 2868 Igf1 insulin-like growth factor 1 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility IEP D RGD:12904726|PMID:24275070 20170519 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:0080539 PEHO syndrome ISO RGD:70506 D RGD:8548849|PMID:11701291 20140324 RGD protein:decreased expression:cerebrospinal fluid: 2868 Igf1 insulin-like growth factor 1 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:70506 D RGD:12910858|PMID:19207313 20170627 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:70506 D RGD:8548854|PMID:22159761 20140324 RGD mRNA,protein:increased expression,increased excretion:orbital tissue: 2868 Igf1 insulin-like growth factor 1 gene DOID:10124 corneal disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12824234 2868 Igf1 insulin-like growth factor 1 gene DOID:1059 intellectual disability ISO RGD:70506 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:10765 D RGD:10045852|PMID:23740209 20150618 RGD protein:decreased expression:hippocampus: 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:10045853|PMID:24301648 20150618 RGD protein:altered expression:plasma,cerebral spinal fluid: 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:10765 D RGD:10045853|PMID:24301648 20150618 RGD protein:altered expression:plasma,cerebral spinal fluid: 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:70506 D RGD:10045860|PMID:24054991 20150618 RGD protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:70506 D RGD:10045854|PMID:23089282 20150618 RGD DNA:polymorphism:intron: rs972936(human) 2868 Igf1 insulin-like growth factor 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70506 D RGD:10402576|PMID:10399774 20151027 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:10763 hypertension IAGP D RGD:1580474|PMID:15996002 19990101 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:10763 hypertension IEP D RGD:12904968|PMID:8418983 20170530 RGD mRNA:increased expression:aorta (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:10763 hypertension ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19502719|PMID:22228705 2868 Igf1 insulin-like growth factor 1 gene DOID:10763 hypertension severity ISO RGD:70506 D RGD:1598427|PMID:16431135 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:10045867|PMID:24106111 20150619 RGD protein:increased expression:aqueous humor of eyeball: 2868 Igf1 insulin-like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:10045893|PMID:12714661 20150623 RGD mRNA,protein:increased expression:endothelial cell: 2868 Igf1 insulin-like growth factor 1 gene DOID:10907 microcephaly ISO RGD:70506 D RGD:8548823|PMID:20668042 20140321 RGD DNA:nonsense mutation,haploinsufficiency :cds: 2868 Igf1 insulin-like growth factor 1 gene DOID:10907 microcephaly ISO RGD:70506 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 2868 Igf1 insulin-like growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19415693 2868 Igf1 insulin-like growth factor 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:70506 D RGD:10755701|PMID:20013271 20160203 RGD protein:increased expression:serum 2868 Igf1 insulin-like growth factor 1 gene DOID:11476 osteoporosis IEP D RGD:10003131|PMID:19424739 20150504 RGD associated with Cholestasis 2868 Igf1 insulin-like growth factor 1 gene DOID:11476 osteoporosis IEP D RGD:10003132|PMID:1466160 20150504 RGD associated with Diabetes Mellitus, Experimental 2868 Igf1 insulin-like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:10765 D RGD:10003127|PMID:10499542 20150504 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:11476 osteoporosis treatment IEP D RGD:10003128|PMID:17647196 20150504 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast 2868 Igf1 insulin-like growth factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:70506 D RGD:8549491|PMID:15653207 20140327 RGD protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:11830 myopia no_association ISO RGD:70506 D RGD:8548829|PMID:21976954 20140321 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) 2868 Igf1 insulin-like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:8548827|PMID:22332214 20140321 RGD DNA:haplotype: :rs12423791,rs7956547,rs5742632(human) 2868 Igf1 insulin-like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:8548828|PMID:20435602 20140321 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) 2868 Igf1 insulin-like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:8548838|PMID:22509095 20140321 RGD DNA:SNP,haplotype: : rs12423791,rs5742629(human) 2868 Igf1 insulin-like growth factor 1 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:70506 D RGD:1598422|PMID:12135130 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:70506 D RGD:8548880|PMID:2772560 20140325 RGD protein:increased expression:nasal cavity mucosa, blood vessel: 2868 Igf1 insulin-like growth factor 1 gene DOID:12361 Graves' disease ISO RGD:70506 D RGD:8548837|PMID:9857239 20140321 RGD mRNA,protein:increased expression:thyroid gland: 2868 Igf1 insulin-like growth factor 1 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:70506 D RGD:8548833|PMID:21788435 20140321 RGD protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:12849 autistic disorder ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 2868 Igf1 insulin-like growth factor 1 gene DOID:12858 Huntington's disease ISO RGD:10765 D RGD:10045865|PMID:23384443 20150619 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:12858 Huntington's disease ISO RGD:10765 D RGD:10045870|PMID:25140802 20150619 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:70506 D RGD:12904970|PMID:15371744 20170530 RGD human protein in a rat model 2868 Igf1 insulin-like growth factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:70506 D RGD:1598419|PMID:11934830 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:13025 retinopathy of prematurity IEP D RGD:8548852|PMID:16500767 20140324 RGD mRNA:decreased expression:retina 2868 Igf1 insulin-like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:70506 D RGD:8548825|PMID:20085549 20140321 RGD protein:decreased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:13025 retinopathy of prematurity no_association ISO RGD:70506 D RGD:8548867|PMID:20214047 20140324 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:13580 cholestasis IEP D RGD:10046052|PMID:18607346 20150702 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:13580 cholestasis ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12826230 2868 Igf1 insulin-like growth factor 1 gene DOID:14026 folic acid deficiency anemia IEP D RGD:12910463|PMID:16111879 20170614 RGD protein:decreased expression:serum, cranial bone (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:14183 alcoholic neuropathy IEP D RGD:10402569|PMID:23016131 20151027 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:1459 hypothyroidism IEP D RGD:12910458|PMID:1380443 20170614 RGD protein:decreased expression:serum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:1485 cystic fibrosis ISO RGD:70506 D RGD:12904899|PMID:22461702 20170524 RGD protein:increased expression:respiratory tract epithelium (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:1612 breast cancer susceptibility IEP D RGD:2315650|PMID:17584969 20170525 RGD protein:increased expression:serum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:70506 D RGD:2306689|PMID:19064563 20100414 RGD DNA:polymorphism (human) 2868 Igf1 insulin-like growth factor 1 gene DOID:224 transient cerebral ischemia severity IEP D RGD:12904924|PMID:25098324 20170525 RGD protein:decreased expression:serum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:2316 brain ischemia IDA D RGD:1598411|PMID:16882007 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:70506 D RGD:2306694|PMID:19332057 20090430 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:2349 arteriosclerosis ISO RGD:70506 D RGD:2313768|PMID:15625284 20091014 RGD protein:increased expression:blood 2868 Igf1 insulin-like growth factor 1 gene DOID:2449 acromegaly ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:9186818|PMID:18381583|PMID:18388193 2868 Igf1 insulin-like growth factor 1 gene DOID:289 endometriosis ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2868 Igf1 insulin-like growth factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:70506 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 2868 Igf1 insulin-like growth factor 1 gene DOID:2962 Cockayne syndrome ISO RGD:10765 D RGD:10003139|PMID:17326724 20150504 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:70506 D RGD:5508806|PMID:21428190 20140327 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:3021 acute kidney failure ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7540432 2868 Igf1 insulin-like growth factor 1 gene DOID:3070 high grade glioma severity ISO RGD:70506 D RGD:8548833|PMID:21788435 20140321 RGD protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:3213 demyelinating disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9452187 2868 Igf1 insulin-like growth factor 1 gene DOID:3407 carotid artery disease ISO RGD:70506 D RGD:1598446|PMID:16181175 20061129 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:3490 Noonan syndrome ISO RGD:10765 D RGD:11352540|PMID:22371576 20170526 RGD protein:decreased expression:serum (mouse) 2868 Igf1 insulin-like growth factor 1 gene DOID:3490 Noonan syndrome treatment ISO RGD:70506 D RGD:11063837|PMID:16263833 20170627 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:3491 Turner syndrome ISO RGD:70506 D RGD:12743588|PMID:17067837 20170208 RGD protein:decreased activity:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 2868 Igf1 insulin-like growth factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10765 D RGD:2317639|PMID:20098680 20100414 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 2868 Igf1 insulin-like growth factor 1 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:12904929|PMID:11409163 20170526 RGD mRNA:decreased expression:heart (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:3911 progeria treatment ISO RGD:10765 D RGD:10003141|PMID:20805469 20150504 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:4248 coronary stenosis IEP D RGD:10046053|PMID:8102103 20150702 RGD mRNA:increased expression:myocyte: 2868 Igf1 insulin-like growth factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70506 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 2868 Igf1 insulin-like growth factor 1 gene DOID:557 kidney disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8825380 2868 Igf1 insulin-like growth factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8866126|PMID:9452187 2868 Igf1 insulin-like growth factor 1 gene DOID:5844 myocardial infarction IEP D RGD:2306696|PMID:19295919 20090430 RGD mRNA, protein:increased expression:myocardium 2868 Igf1 insulin-like growth factor 1 gene DOID:5844 myocardial infarction severity ISO RGD:70506 D RGD:1598421|PMID:16635594 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:6000 congestive heart failure IEP D RGD:1598415|PMID:12835956 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:70506 D RGD:8548834|PMID:23197685 20140321 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:630 genetic disease ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2868 Igf1 insulin-like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:8549457|PMID:7608381 20140326 RGD protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:8549489|PMID:21054577 20140327 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:6543 acne no_association ISO RGD:70506 D RGD:8549499|PMID:9347796 20140327 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:657 adenoma ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 2868 Igf1 insulin-like growth factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:70506 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2868 Igf1 insulin-like growth factor 1 gene DOID:767 muscular atrophy ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18467435 2868 Igf1 insulin-like growth factor 1 gene DOID:783 end stage renal disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10198369 2868 Igf1 insulin-like growth factor 1 gene DOID:8398 osteoarthritis ISO RGD:70506 D RGD:10045857|PMID:2290165 20150618 RGD protein:decreased expression:blood: 2868 Igf1 insulin-like growth factor 1 gene DOID:8634 prostate carcinoma in situ IEP D RGD:2306713|PMID:19171036 20090430 RGD protein:increased expression:prostate gland 2868 Igf1 insulin-like growth factor 1 gene DOID:8725 vascular dementia IEP D RGD:10045864|PMID:22342912 20150618 RGD mRNA,protein:decreased expression:hippocampus: 2868 Igf1 insulin-like growth factor 1 gene DOID:8725 vascular dementia severity ISO RGD:70506 D RGD:1598446|PMID:16181175 20061129 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:8778 Crohn's disease ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 2868 Igf1 insulin-like growth factor 1 gene DOID:8893 psoriasis ISO RGD:70506 D RGD:8549492|PMID:21241374 20140327 RGD mRNA,protein:increased expression:skin: 2868 Igf1 insulin-like growth factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:70506 D RGD:2313764|PMID:17194636 20091014 RGD protein:decreased expression:serum 2868 Igf1 insulin-like growth factor 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:70506 D RGD:1598424|PMID:16873705 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9000121 Malocclusion disease_progression IEP D RGD:10045831|PMID:22758598 20150617 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9000146 Plaque, Atherosclerotic treatment ISO RGD:70506 D RGD:8548877|PMID:17916769 20140325 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9000528 Coronary Disease ISO RGD:70506 D RGD:1626121|PMID:15521962 20070712 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 2868 Igf1 insulin-like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:2317643|PMID:19375852 20100414 RGD associated with Pancreatic Neoplasms 2868 Igf1 insulin-like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:8548834|PMID:23197685 20140321 RGD associated with Uveal Melanoma;protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:70506 D RGD:12904928|PMID:9344566 20170526 RGD human protein in a rat model 2868 Igf1 insulin-like growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:70506 D RGD:8548875|PMID:18202785 20140325 RGD mRNA:increased expression:nasal cavity mucosa: 2868 Igf1 insulin-like growth factor 1 gene DOID:9001542 Albuminuria susceptibility ISO RGD:70506 D RGD:1598420|PMID:16645019 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:10045984|PMID:12800242 20150629 RGD protein:increased expression:liver: 2868 Igf1 insulin-like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15591519|PMID:15745444 2868 Igf1 insulin-like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:2317647|PMID:16434425 20100414 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:12904923|PMID:20198635 20170525 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9001600 Wounds and Injuries IEP D RGD:8549452|PMID:21296499 20140326 RGD protein:increased expression:skin: 2868 Igf1 insulin-like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:10765 D RGD:8548883|PMID:20713758 20140325 RGD associated with Rhinosinusitis; mRNA:increased expression:nose: 2868 Igf1 insulin-like growth factor 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:12904967|PMID:10444029 20170530 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70506 D RGD:2313764|PMID:17194636 20091014 RGD protein:decreased expression:serum 2868 Igf1 insulin-like growth factor 1 gene DOID:9002209 Skull Fractures ISO RGD:70506 D RGD:8548865|PMID:12002507 20140324 RGD protein:decreased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9452187 2868 Igf1 insulin-like growth factor 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2306715|PMID:19088829 20090430 RGD mRNA:decreased expression:liver 2868 Igf1 insulin-like growth factor 1 gene DOID:9002231 Fetal Growth Retardation onset IEP D RGD:12904720|PMID:24239160 20170519 RGD protein:decreased expression:placenta labyrinth (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:1600258|PMID:15506645 20151028 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:70506 D RGD:12910460|PMID:9284279 20170614 RGD human protein in a rat model 2868 Igf1 insulin-like growth factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 2868 Igf1 insulin-like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11014614 2868 Igf1 insulin-like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment IEP D RGD:6907380|PMID:21567076 20170525 RGD associated with Diabetes Mellitus, Experimental 2868 Igf1 insulin-like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:70506 D RGD:10402812|PMID:8619365 20151030 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9002304 Prostatic Neoplasms IEP D RGD:2306713|PMID:19171036 20090430 RGD protein:increased expression:prostate gland 2868 Igf1 insulin-like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16465378|PMID:19208208|PMID:24586243 2868 Igf1 insulin-like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:10765 D RGD:10046057|PMID:9497937 20150706 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70506 D RGD:10045868|PMID:20633672 20150619 RGD mRNA:increased expression:meniscus: 2868 Igf1 insulin-like growth factor 1 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:70506 D RGD:10045862|PMID:8461919 20150618 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9002331 Knee Osteoarthritis severity IEP D RGD:10003130|PMID:17133593 20170526 RGD protein:decreased expression:plasma (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:9002427 Fetal Macrosomia ISO RGD:70506 D RGD:12743591|PMID:17113804 20170208 RGD protein:increased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:2306697|PMID:19246225 20090430 RGD protein:decreased expression:plasma 2868 Igf1 insulin-like growth factor 1 gene DOID:9002514 Neointima ISO RGD:70506 D RGD:1580477|PMID:12791939 20180126 RGD associated with Hypertension 2868 Igf1 insulin-like growth factor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 2868 Igf1 insulin-like growth factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:70506 D RGD:6483353|PMID:7541143 20170526 RGD human protein in a rat model 2868 Igf1 insulin-like growth factor 1 gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:12910457|PMID:18344903 20170614 RGD protein:decreased expression:serum (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:70506 D RGD:8549455|PMID:16585854 20140326 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9002916 Hyperphagia IDA D RGD:10046043|PMID:17567960 20150702 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9452187|PMID:10203697 2868 Igf1 insulin-like growth factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2868 Igf1 insulin-like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10046049|PMID:19766709 20150702 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IDA D RGD:12904932|PMID:23694759 20170526 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70506 D RGD:8549456|PMID:11672597 20140326 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9003817 Sudden Hearing Loss treatment ISO RGD:70506 D RGD:8548824|PMID:21108784 20140321 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9003921 Zinc Deficiency IEP D RGD:12904966|PMID:20404036 20170530 RGD mRNA:decreased expression:liver (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:9003936 Cardiomegaly ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10547078 2868 Igf1 insulin-like growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10765 D RGD:1598442|PMID:16306169 20061129 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9004091 Osteophytes IEP D RGD:10003127|PMID:10499542 20150504 RGD associated with Acromegaly 2868 Igf1 insulin-like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:24353828 2868 Igf1 insulin-like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:8549453|PMID:9135074 20140326 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 2868 Igf1 insulin-like growth factor 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:70506 D RGD:10045861|PMID:11063288 20150618 RGD protein:decreased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10765 D RGD:8549490|PMID:23342276 20140327 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15217511|PMID:15528971|PMID:17584969 2868 Igf1 insulin-like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10046054|PMID:22133301 20150702 RGD mRNA,protein:decreased expression:corpus cavernosum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306671|PMID:19382144 20090429 RGD protein:decreased expression:cerebellum, serum 2868 Igf1 insulin-like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142788|PMID:20555424 20100909 RGD protein:decreased expression:heart 2868 Igf1 insulin-like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10765 D RGD:2311502|PMID:18676006 20090721 RGD protein:decreased expression:oviduct 2868 Igf1 insulin-like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24632065 2868 Igf1 insulin-like growth factor 1 gene DOID:9005768 Thinness ISO RGD:70506 D RGD:10045866|PMID:10578024 20150619 RGD protein:decreased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:70506 D RGD:8548876|PMID:8493451 20140325 RGD protein:decreased expression:blood: 2868 Igf1 insulin-like growth factor 1 gene DOID:9005930 Endotoxemia IEP D RGD:10402757|PMID:18492809 20151028 RGD mRNA, protein:decreased expression:liver, serum 2868 Igf1 insulin-like growth factor 1 gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20170627 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9005941 Rhinosinusitis ISO RGD:10765 D RGD:8548883|PMID:20713758 20140325 RGD mRNA:increased expression:nose: 2868 Igf1 insulin-like growth factor 1 gene DOID:9006008 Closed Head Injuries ISO RGD:70506 D RGD:8548865|PMID:12002507 20140324 RGD protein:decreased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9006086 Intervertebral Disc Displacement IMP D RGD:8549460|PMID:21037532 20140326 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment IEP D RGD:12904918|PMID:10090325 20170525 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:10765 D RGD:10046051|PMID:12490968 20150702 RGD protein:increased expression:serum,carotid artery: 2868 Igf1 insulin-like growth factor 1 gene DOID:9006257 Growth Disorders ISO RGD:70506 D RGD:1624297|PMID:8857020 20070508 RGD IGF1 deficiency, OMIM:608747;DNA:deletion 2868 Igf1 insulin-like growth factor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20064577 2868 Igf1 insulin-like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:7240710 20130221 OMIM 2868 Igf1 insulin-like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency PMID:14684690|PMID:15769976|PMID:18317720|PMID:19240240|PMID:21915365|PMID:22832530|PMID:24033266|PMID:24389050|PMID:24664114|PMID:25741868|PMID:28492532|PMID:30214071|PMID:8857020 2868 Igf1 insulin-like growth factor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11375343 2868 Igf1 insulin-like growth factor 1 gene DOID:9007096 Stroke IEP D RGD:1598413|PMID:15567334 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9007096 Stroke severity ISO RGD:70506 D RGD:1598423|PMID:16882751 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9007102 Myocardial Ischemia IDA D RGD:1598426|PMID:16698918 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2868 Igf1 insulin-like growth factor 1 gene DOID:9007102 Myocardial Ischemia severity ISO RGD:70506 D RGD:1598425|PMID:16793032 20061127 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:70506 D RGD:10045848|PMID:16939403 20150617 RGD DNA:repeat:promoter 2868 Igf1 insulin-like growth factor 1 gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:70506 D RGD:10045863|PMID:10752709 20150618 RGD protein:decreased expression:serum 2868 Igf1 insulin-like growth factor 1 gene DOID:9007181 Osteoporotic Fractures treatment IDA D RGD:10003137|PMID:11834155 20150504 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9007284 Precocious Puberty ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 2868 Igf1 insulin-like growth factor 1 gene DOID:9007346 Cachexia ISO RGD:70506 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 2868 Igf1 insulin-like growth factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23639586|PMID:25226513 2868 Igf1 insulin-like growth factor 1 gene DOID:9007480 Hyperoxia severity ISO RGD:70506 D RGD:12904925|PMID:17697625 20170525 RGD human protein in a rat model 2868 Igf1 insulin-like growth factor 1 gene DOID:9007661 Dwarfism IEP D RGD:12904931|PMID:20102388 20170526 RGD protein:decreased expression:plasma (rat) 2868 Igf1 insulin-like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:70506 D RGD:8548823|PMID:20668042 20140321 RGD DNA:nonsense mutation,haploinsufficiency :cds: 2868 Igf1 insulin-like growth factor 1 gene DOID:9007730 Burns IEP D RGD:12910869|PMID:10827012 20170627 RGD mRNA:altered expression:multiple 2868 Igf1 insulin-like growth factor 1 gene DOID:9008212 Diabetic Foot ISO RGD:70506 D RGD:8549356|PMID:10727985 20140326 RGD protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: 2868 Igf1 insulin-like growth factor 1 gene DOID:9008681 Deafness ISO RGD:10765 D RGD:8549497|PMID:20661454 20140327 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9008824 Sarcopenia ISO RGD:70506 D RGD:10045859|PMID:12919235 20150618 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520698|PMID:18398872 2868 Igf1 insulin-like growth factor 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 2868 Igf1 insulin-like growth factor 1 gene DOID:9351 diabetes mellitus ISO RGD:70506 D RGD:10046054|PMID:22133301 20150702 RGD mRNA,protein:decreased expression:corpus cavernosum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2306690|PMID:18986336 20090430 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70506 D RGD:2313767|PMID:16005252 20091014 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9521 Laron syndrome ISO RGD:70506 D RGD:8549489|PMID:21054577 20140327 RGD protein:decreased expression:serum: 2868 Igf1 insulin-like growth factor 1 gene DOID:9743 diabetic neuropathy IMP D RGD:2306687|PMID:19264110 20090430 RGD associated with Diabetes Mellitus, Experimental 2868 Igf1 insulin-like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:70506 D RGD:2313764|PMID:17194636 20091014 RGD protein:decreased expression:serum 2868 Igf1 insulin-like growth factor 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:10765 D RGD:8549454|PMID:18545223 20140326 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24632065 2868 Igf1 insulin-like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:2306688|PMID:19156625 20090430 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:2313769|PMID:15356074 20091014 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:70506 D RGD:2313765|PMID:16887362 20091014 RGD 2868 Igf1 insulin-like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:8549462|PMID:10827403 20140326 RGD protein:increased expression:plasma: 2868 Igf1 insulin-like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:8549500|PMID:24499417 20140327 RGD protein:decreased secretion:dermal papilla: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0050696 fetal alcohol spectrum disorder IEP D RGD:12904886|PMID:16909201 20170524 RGD protein:decreased activity:cerebellum (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0050700 cardiomyopathy IEP D RGD:2311503|PMID:17686258 20090721 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:68997 D RGD:7242847|PMID:15867218 20130423 RGD mRNA and protein: increased expression::poor prognosis for high expression 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0060224 atrial fibrillation ISO RGD:68997 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:68997 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:68997 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility IEP D RGD:12904726|PMID:24275070 20170519 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10126 keratoconus ISO RGD:68997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:68997 D RGD:13504752|PMID:28972962 20180122 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10286 prostate carcinoma IEP D RGD:13504770|PMID:18079205 20180123 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:1059 intellectual disability ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease IMP D RGD:10045879|PMID:16274856 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:10045878|PMID:19487308 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:10045894|PMID:18479783 20150623 RGD protein:increased expression: cerebral cortex: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:5686420|PMID:20409077 20120124 RGD DNA: haploinsufficiency:: full knockout dies at birth 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:10766 D RGD:10045879|PMID:16274856 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:68997 D RGD:10045894|PMID:18479783 20150623 RGD protein:increased expression:temporal cortex: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10652 Alzheimer's disease treatment IEP D RGD:12904921|PMID:23562514 20170525 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10763 hypertension IEP D RGD:10046007|PMID:21854769 20150701 RGD protein:increased expression:aorta: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:68997 D RGD:10045893|PMID:12714661 20150623 RGD mRNA,protein:increased expression:endothelial cell: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11044 gastroschisis IEP D RGD:12904922|PMID:23381816 20170525 RGD protein:increased expression:liver, intestine (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11132 prostatic hypertrophy ISO RGD:68997 D RGD:7242915|PMID:9215294 20130425 RGD mRNA: increased expression: prostate 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11162 respiratory failure ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620343 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11383 cryptorchidism IEP D RGD:12904727|PMID:7473418 20170519 RGD protein:decreased expression:testis (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11476 osteoporosis ISO RGD:68997 D RGD:10045888|PMID:18079194 20150622 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:68997 D RGD:14985227|PMID:24758241 20191014 RGD associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11714 gestational diabetes IEP D RGD:10046048|PMID:22241286 20150702 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:68997 D RGD:2311505|PMID:16750336 20090721 RGD associated with Diabetes Mellitus;protein:decreased expression:placenta 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:5129515|PMID:19276553 20150622 RGD mRNA:altered expression:brain: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:12361 Graves' disease ISO RGD:68997 D RGD:5686433|PMID:18832736 20120124 RGD protein: increased expression: blood: T cells and B cells 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:12858 Huntington's disease ISO RGD:10766 D RGD:10045870|PMID:25140802 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:1307 dementia ISO RGD:68997 D RGD:10045873|PMID:16983186 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:14183 alcoholic neuropathy IEP D RGD:10402569|PMID:23016131 20151027 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:14330 Parkinson's disease IMP D RGD:5686429|PMID:19703168 20120124 RGD protein: altered activity 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:5129515|PMID:19276553 20150622 RGD mRNA:altered expression:brain: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:1612 breast cancer ISO RGD:68997 D RGD:7242794|PMID:21047775 20130423 RGD protein: increased expression 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:1793 pancreatic cancer ISO RGD:68997 D RGD:2317640|PMID:19885860 20100414 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:1793 pancreatic cancer ISO RGD:68997 D RGD:2317642|PMID:19732452 20100414 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:1793 pancreatic cancer ISO RGD:68997 D RGD:2317651|PMID:14559833 20100414 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:12904709|PMID:8390684 20170518 RGD mRNA:increased expression:kidney (human) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:7242789|PMID:22529373 20130423 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2154 nephroblastoma treatment ISO RGD:68997 D RGD:12904709|PMID:8390684 20170518 RGD human cells in a mouse model 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:10766 D RGD:13504768|PMID:25442907 20180123 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment IMP D RGD:13504771|PMID:8692980 20180123 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:68997 D RGD:13504753|PMID:26452103 20180122 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:68997 D RGD:13504767|PMID:25862373 20180123 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:68997 D RGD:7242795|PMID:21047277 20130423 RGD DNA: snp::rs2229765 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3021 acute kidney failure IEP D RGD:7242908|PMID:9767523 20130425 RGD mRNA: decreased expression: kidney: both cortex and medulla 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3070 high grade glioma ISO RGD:68997 D RGD:5686434|PMID:18562769 20120124 RGD DNA: SNP: : rs2272037 or rs2016347 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:332 amyotrophic lateral sclerosis onset IEP D RGD:12904708|PMID:18683239 20170518 RGD mRNA:decreased expression:spinal cord (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68997 D RGD:2317649|PMID:14627343 20100414 RGD protein:increased expression:pancreas 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68997 D RGD:2317652|PMID:14506643 20100414 RGD protein:increased expression:pancreas 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3602 toxic encephalopathy ISO RGD:68997 D RGD:5686413|PMID:20864405 20120124 RGD DNA: snp: intron: rs1879612: bortezomib induced 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22407999 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:4248 coronary stenosis IEP D RGD:10046053|PMID:8102103 20150702 RGD mRNA:increased expression:myocyte: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:4450 renal cell carcinoma IEP D RGD:7242846|PMID:17952403 20130423 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:68997 D RGD:7242921|PMID:19509240 20130425 RGD xenograph of human clear cell renal cancer cells in mouse 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:5082 liver cirrhosis susceptibility ISO RGD:68997 D RGD:14985227|PMID:24758241 20191014 RGD associated with Hepatis B virus;DNA:SNP:3'UTR:rs3743251(human) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:5577 gastrinoma ISO RGD:68997 D RGD:7242847|PMID:15867218 20130423 RGD mRNA and protein: increased expression::poor prognosis for high expression 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:574 peripheral nervous system disease ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:5844 myocardial infarction IEP D RGD:10046050|PMID:8682060 20150702 RGD mRNA,protein:increased expression:myocyte: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:630 genetic disease ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14657428|PMID:19240156|PMID:21204214|PMID:23073384|PMID:25741868|PMID:28492532|PMID:30848790|PMID:31586944 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17441810|PMID:23958494 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68997 D RGD:14985227|PMID:24758241 20191014 RGD DNA:SNPs, haplotype: : 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:769 neuroblastoma ISO RGD:68997 D RGD:7242922|PMID:17121898 20130426 RGD protein: decreased tyrosine phosphorylation: : Y1131 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:7998 hyperthyroidism IEP D RGD:2311524|PMID:17447016 20090722 RGD protein:increased expression:myocardium 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:8398 osteoarthritis severity ISO RGD:68997 D RGD:10045889|PMID:8609369 20150622 RGD mRNA:increased expression:articular cartilage of joint: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:850 lung disease ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:8577 ulcerative colitis ISO RGD:68997 D RGD:5686432|PMID:18938767 20140130 RGD protein:altered expression:colon 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:8725 vascular dementia ISO RGD:68997 D RGD:10045873|PMID:16983186 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:8947 diabetic retinopathy disease_progression IEP D RGD:10046008|PMID:12781065 20150701 RGD mRNA:increased expression:retina: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9000121 Malocclusion IEP D RGD:10045831|PMID:22758598 20150622 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9000145 Insulin-Like Growth Factor I, Resistance To ISO RGD:68997 D RGD:7240710 20130221 OMIM 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9000145 Insulin-Like Growth Factor I, Resistance To ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE | ClinVar Annotator: match by term: IGF1R-Related Disorder | ClinVar Annotator: match by term: Insulin-like growth factor 1 resistance to | ClinVar Annotator: match by term: Somatomedin end-organ insensitivity to | ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:14657428|PMID:15799978|PMID:15928254|PMID:16569742|PMID:16894147|PMID:17264177|PMID:18316725|PMID:18989367|PMID:20416304|PMID:20455999|PMID:20625407|PMID:21204214|PMID:22130793|PMID:22309212|PMID:22903739|PMID:23045302|PMID:23073384|PMID:23147026|PMID:23164529|PMID:23431249|PMID:23549953|PMID:23771920|PMID:25040157|PMID:25231023|PMID:25628647|PMID:25741868|PMID:25743390|PMID:26252249|PMID:28492532|PMID:29168297|PMID:29789409|PMID:30848790|PMID:31586944 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:68997 D RGD:2317645|PMID:16575403 20100414 RGD associated with Pancreatic Neoplasms 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10766 D RGD:10045869|PMID:19032681 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:10045984|PMID:12800242 20150629 RGD protein:increased expression:liver: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9001820 Pulmonary Arterial Hypertension treatment IEP D RGD:156430315|PMID:30240970 20230223 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:10046022|PMID:19008912 20150701 RGD mRNA,protein:increased expression:kidney: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation IEP D RGD:12904724|PMID:12536576 20170519 RGD protein:increased expression:liver, lung (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:1624299|PMID:14657428 20070508 RGD DNA:point mutation:exon:p.R108Q, p.K115N (human) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation onset IEP D RGD:12904720|PMID:24239160 20170519 RGD protein:decreased expression:placenta labyrinth (rat) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002278 Metabolic Bone Diseases treatment IEP D RGD:6907380|PMID:21567076 20170525 RGD associated with Diabetes Mellitus, Experimental 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:68997 D RGD:10045874|PMID:8948288 20150619 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002644 Premature Aging ISO RGD:10766 D RGD:10045876|PMID:19500727 20150619 RGD mRNA:decreased expression:liver: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9002916 Hyperphagia IMP D RGD:10046043|PMID:17567960 20150702 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9003936 Cardiomegaly ISO RGD:10766 D RGD:2311509|PMID:18801929 20090721 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68997 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9004464 Skin Neoplasms ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10365914 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142788|PMID:20555424 20100909 RGD protein:decreased phosphorylation:heart 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10766 D RGD:2311502|PMID:18676006 20090721 RGD protein:decreased expression:oviduct 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment IDA D RGD:12904918|PMID:10090325 20170525 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9006182 Carotid Artery Injuries treatment IEP D RGD:10046006|PMID:17606126 20150701 RGD protein:increased phosphorylation:carotid artery: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7242905|PMID:10990448 20130425 RGD mRNA: increased expression: kidney: 3 and 5 days post ischemia 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9006257 Growth Disorders ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9007096 Stroke ISO RGD:68997 D RGD:5686435|PMID:18477064 20120124 RGD DNA: SNP: : rs2229765 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9007661 Dwarfism ISO RGD:68997 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Short stature 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21442237 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9007730 Burns IEP D RGD:10046020|PMID:25186839 20150701 RGD protein:decreased expression:skeletal muscle: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries IEP D RGD:10046025|PMID:23648097 20150701 RGD protein:increased expression:retina: 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries IMP D RGD:5686431|PMID:19484445 20120124 RGD protein: altered activity: eye 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:68997 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:68997 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:68997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21057462 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:10766 D RGD:2311506|PMID:16642022 20090721 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:68997 D RGD:152975631|PMID:27411924 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2306690|PMID:18986336 20090721 RGD protein:decreased expression:myocardium, blood vessel endothelial cell 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311504|PMID:17476475 20090721 RGD protein:decreased expression:pancreas 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9620 vesicoureteral reflux ISO RGD:68997 D RGD:7242902|PMID:14760498 20130424 RGD 2869 Igf1r insulin-like growth factor 1 receptor gene DOID:9970 obesity IEP D RGD:12904882|PMID:11009458 20170524 RGD mRNA:decreased expression:heart (rat) 2870 Igf2 insulin-like growth factor 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:20007936|PMID:24411943|PMID:25741868|PMID:25781672|PMID:27634015 2870 Igf2 insulin-like growth factor 2 gene DOID:0050589 inflammatory bowel disease IEP D RGD:5509948|PMID:20683203 20111115 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:737149 D RGD:5509968|PMID:12548059 20111116 RGD protein:increased expression:serum 2870 Igf2 insulin-like growth factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2870 Igf2 insulin-like growth factor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16092956 2870 Igf2 insulin-like growth factor 2 gene DOID:0080006 bone development disease ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 2870 Igf2 insulin-like growth factor 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:737149 D RGD:12910858|PMID:19207313 20170627 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:737149 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2870 Igf2 insulin-like growth factor 2 gene DOID:0110741 type 1 diabetes mellitus 2 ISS RGD:10770 D RGD:13592920 20180518 MouseDO OMIM:125852 2870 Igf2 insulin-like growth factor 2 gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:20007936|PMID:24411943|PMID:25741868|PMID:25781672|PMID:27634015 2870 Igf2 insulin-like growth factor 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:737149 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2870 Igf2 insulin-like growth factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2870 Igf2 insulin-like growth factor 2 gene DOID:10652 Alzheimer's disease IEP D RGD:5509963|PMID:16627931 20111116 RGD mRNA:decreased expression:brain 2870 Igf2 insulin-like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10770 D RGD:10045934|PMID:24887203 20151026 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:10402559|PMID:24685003 20151026 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 2870 Igf2 insulin-like growth factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10770 D RGD:10402558|PMID:21040071 20151026 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:11476 osteoporosis treatment IDA D RGD:10402555|PMID:12162999 20151026 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2870 Igf2 insulin-like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:5129515|PMID:19276553 20151026 RGD mRNA:decreased expression:frontal cortex 2870 Igf2 insulin-like growth factor 2 gene DOID:12849 autistic disorder ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 2870 Igf2 insulin-like growth factor 2 gene DOID:14183 alcoholic neuropathy IEP D RGD:10402569|PMID:23016131 20151027 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2870 Igf2 insulin-like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:5129515|PMID:19276553 20150622 RGD mRNA:decreased expression:frontal cortex 2870 Igf2 insulin-like growth factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737149 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2870 Igf2 insulin-like growth factor 2 gene DOID:14681 Silver-Russell syndrome ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19066168 2870 Igf2 insulin-like growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21270887 2870 Igf2 insulin-like growth factor 2 gene DOID:1612 breast cancer ISO RGD:737149 D RGD:2311512|PMID:18719053 20090721 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:1657 ventricular septal defect treatment ISO RGD:737149 D RGD:13204804|PMID:21238444 20170719 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:1936 atherosclerosis ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11726660 2870 Igf2 insulin-like growth factor 2 gene DOID:2154 nephroblastoma ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8252039 2870 Igf2 insulin-like growth factor 2 gene DOID:2355 anemia ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12090760 2870 Igf2 insulin-like growth factor 2 gene DOID:2377 multiple sclerosis ISO RGD:737149 D RGD:5510017|PMID:10417663 20111118 RGD protein:increased expression:macrophage 2870 Igf2 insulin-like growth factor 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7981680 2870 Igf2 insulin-like growth factor 2 gene DOID:3454 brain infarction IEP D RGD:5509999|PMID:7770004 20111116 RGD mRNA, protein:increased expression:brain 2870 Igf2 insulin-like growth factor 2 gene DOID:3594 choriocarcinoma disease_progression ISO RGD:737149 D RGD:2290454|PMID:17556377 20080313 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:3827 congenital diaphragmatic hernia treatment IEP D RGD:10402563|PMID:24352370 20151027 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21521927|PMID:23417626 2870 Igf2 insulin-like growth factor 2 gene DOID:4752 multiple system atrophy severity ISO RGD:737149 D RGD:5509960|PMID:20683839 20111116 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:5082 liver cirrhosis severity ISO RGD:737149 D RGD:14401722|PMID:28650518 20190515 RGD associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma 2870 Igf2 insulin-like growth factor 2 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8252039|PMID:9349812 2870 Igf2 insulin-like growth factor 2 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868 2870 Igf2 insulin-like growth factor 2 gene DOID:630 genetic disease ISO RGD:737149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28848601|PMID:29073591 2870 Igf2 insulin-like growth factor 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737149 D RGD:5509969|PMID:11232005 20111116 RGD protein:decreased expression:plasma 2870 Igf2 insulin-like growth factor 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:2311523|PMID:17554210 20090722 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12532445|PMID:16092956 2870 Igf2 insulin-like growth factor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737149 D RGD:14401723|PMID:16750516 20190515 RGD associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human) 2870 Igf2 insulin-like growth factor 2 gene DOID:687 hepatoblastoma ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23958494 2870 Igf2 insulin-like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:5510001|PMID:19556211 20111117 RGD DNA:loss of imprinting:synovial cell 2870 Igf2 insulin-like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:5510014|PMID:11247331 20111118 RGD protein:decreased expression:plasma 2870 Igf2 insulin-like growth factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:737149 D RGD:5509964|PMID:16477536 20111116 RGD protein:decreased expression:serum 2870 Igf2 insulin-like growth factor 2 gene DOID:780 placenta disease ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12087403 2870 Igf2 insulin-like growth factor 2 gene DOID:8398 osteoarthritis ISO RGD:737149 D RGD:10402552|PMID:22527881 20151026 RGD mRNA:increased expression:cartilage 2870 Igf2 insulin-like growth factor 2 gene DOID:8488 polyhydramnios ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 2870 Igf2 insulin-like growth factor 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:737149 D RGD:5509966|PMID:16088202 20111116 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9000310 Lung Injury IEP D RGD:5509974|PMID:9160836 20111116 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms IEP D RGD:2292665|PMID:18421211 20090722 RGD mRNA:increased expression:mammary gland 2870 Igf2 insulin-like growth factor 2 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:5509971|PMID:11213353 20111116 RGD mRNA:increased expression:brain 2870 Igf2 insulin-like growth factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10770 D RGD:5510000|PMID:21859454 20111117 RGD associated with Arthritis, Experimental; protein:increased expression:lung, bone, serum: 2870 Igf2 insulin-like growth factor 2 gene DOID:9000998 Brain Injuries IEP D RGD:5509972|PMID:11123717 20111116 RGD mRNA:decreased expression:brain 2870 Igf2 insulin-like growth factor 2 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:5510002|PMID:18505416 20111117 RGD mRNA:increased expression:liver 2870 Igf2 insulin-like growth factor 2 gene DOID:9001586 Experimental Liver Neoplasms treatment IEP D RGD:10402567|PMID:22425635 20151027 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:7240710 20160525 OMIM 2870 Igf2 insulin-like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 3 PMID:25741868|PMID:26154720|PMID:28848601|PMID:30152198|PMID:30400067 2870 Igf2 insulin-like growth factor 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:5510019|PMID:9336345 20111118 RGD associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver: 2870 Igf2 insulin-like growth factor 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:5510022|PMID:8764603 20111118 RGD associates with Diabetes Mellitus; mRNA:decreased expression:brain: 2870 Igf2 insulin-like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737149 D RGD:5510019|PMID:9336345 20111118 RGD associated with Diabetes Mellitus, Type 2; 2870 Igf2 insulin-like growth factor 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:14985247|PMID:1408464 20191015 RGD mRNA:altered expresssion:liver,placenta: 2870 Igf2 insulin-like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12087403|PMID:16040806 2870 Igf2 insulin-like growth factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15057734 2870 Igf2 insulin-like growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24667322 2870 Igf2 insulin-like growth factor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2870 Igf2 insulin-like growth factor 2 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression ISO RGD:737149 D RGD:5510005|PMID:16787587 20111117 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737149 D RGD:14401723|PMID:16750516 20190515 RGD DNA:SNPs, haplotype:multiple 2870 Igf2 insulin-like growth factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737149 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 2870 Igf2 insulin-like growth factor 2 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737149 D RGD:10402556|PMID:16753016 20151026 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9004994 Embryo Loss IDA D RGD:5509951|PMID:18778817 20111115 RGD DNA:methylation: : 2870 Igf2 insulin-like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311513|PMID:17184497 20090721 RGD protein:increased expression:multiple 2870 Igf2 insulin-like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5509973|PMID:10686593 20111116 RGD mRNA:decreased expression:brain 2870 Igf2 insulin-like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:2311502|PMID:18676006 20090721 RGD protein:increased expression:oviduct 2870 Igf2 insulin-like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:2311511|PMID:18724775 20090721 RGD DNA, mRNA:hypermethylation, decreased expression 2870 Igf2 insulin-like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737149 D RGD:10402565|PMID:23364485 20151027 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9005834 Ependymomas ISO RGD:737149 D RGD:5509961|PMID:18478565 20111116 RGD mRNA:increased expression:cerebellum 2870 Igf2 insulin-like growth factor 2 gene DOID:9006257 Growth Disorders ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 2870 Igf2 insulin-like growth factor 2 gene DOID:9006646 Metabolic Syndrome IAGP D RGD:2311520|PMID:18418699 20090722 RGD DNA:insertion 2870 Igf2 insulin-like growth factor 2 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:737149 D RGD:5509967|PMID:12927688 20111116 RGD protein:decreased expression:serum 2870 Igf2 insulin-like growth factor 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:737149 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 2870 Igf2 insulin-like growth factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737149 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12127304 2870 Igf2 insulin-like growth factor 2 gene DOID:9008023 Memory Disorders ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21270887 2870 Igf2 insulin-like growth factor 2 gene DOID:9008023 Memory Disorders treatment IEP D RGD:10402554|PMID:24012657 20151026 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12637750 2870 Igf2 insulin-like growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 2870 Igf2 insulin-like growth factor 2 gene DOID:9256 colorectal cancer ISO RGD:737149 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2870 Igf2 insulin-like growth factor 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311504|PMID:17476475 20090721 RGD protein:decreased expression:pancreas 2870 Igf2 insulin-like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10770 D RGD:5510004|PMID:10727441 20111117 RGD 2870 Igf2 insulin-like growth factor 2 gene DOID:9471 meningitis ISO RGD:737149 D RGD:5510023|PMID:7521338 20111118 RGD protein:increased expression:cerebrospinal fluid 2870 Igf2 insulin-like growth factor 2 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:5510007|PMID:11307180 20111117 RGD mRNA, protein:decreased expression:thymus 2870 Igf2 insulin-like growth factor 2 gene DOID:9970 obesity ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11528401 2870 Igf2 insulin-like growth factor 2 gene DOID:9993 hypoglycemia ISO RGD:737149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3185662 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732660 D RGD:14985218|PMID:29940770 20191010 RGD protein:increased expression:serum: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:10283 prostate cancer ISO RGD:732660 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:10652 Alzheimer's disease ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:12217 Lewy body dementia ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:732660 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:14330 Parkinson's disease ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:1520 colon carcinoma ISO RGD:732660 D RGD:14985218|PMID:29940770 20191010 RGD protein:increased expression:serum: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:2154 nephroblastoma ISO RGD:732660 D RGD:7242956|PMID:9070652 20130429 RGD 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:2661 myoepithelioma ISO RGD:732660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:2311519|PMID:18441505 20090722 RGD protein:increased expression:spinal cord, astrocyte 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:3459 breast carcinoma ISO RGD:732660 D RGD:14985218|PMID:29940770 20191010 RGD protein:increased expression:serum,urine: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:3910 lung adenocarcinoma IAGP D RGD:1298968|PMID:12503077 20090727 RGD mRNA:deletions: :c.3698_4902del, c.3366_4902del, c.3817_4697del (rat) 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:732660 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:630 genetic disease ISO RGD:732660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15057872 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:14985218|PMID:29940770 20191010 RGD protein:increased expression:serum: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:14985222|PMID:11981765 20191010 RGD 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:14985225|PMID:12736721 20191014 RGD associated with hepatitis B virus; mRNA:decreased expression:liver: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:1624323|PMID:7493029 20070509 RGD DNA:mutation:G1449V (human) 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:7240710 20131211 OMIM 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:9722161 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732660 D RGD:14985219|PMID:18322954 20191010 RGD DNA:loss of heterozygosity:liver 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732660 D RGD:14985220|PMID:10347113 20191010 RGD DNA:loss of heterozygosity,mutations:liver: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732660 D RGD:14985221|PMID:30720132 20191010 RGD 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:850 lung disease ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:8719 in situ carcinoma ISO RGD:732660 D RGD:2311631|PMID:8649861 20090727 RGD associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:8791 breast carcinoma in situ ISO RGD:732660 D RGD:2311631|PMID:8649861 20090727 RGD DNA:loss of heterozygosity 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732660 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9001586 Experimental Liver Neoplasms IAGP D RGD:2311623|PMID:15057872 20090727 RGD 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9001586 Experimental Liver Neoplasms IAGP D RGD:2311630|PMID:9652747 20090727 RGD 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9002231 Fetal Growth Retardation IEP D RGD:14985247|PMID:1408464 20191015 RGD mRNA:increased expresssion:fetus: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:732660 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732661 D RGD:2311502|PMID:18676006 20090721 RGD protein:increased expression:oviduct 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9006487 Reoviridae Infections resistance IAGP D RGD:2311622|PMID:15333144 20090727 RGD 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:732660 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732660 D RGD:2311514|PMID:16868148 20090721 RGD DNA:insertion, deletion:3' utr (human) 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9538 multiple myeloma ISO RGD:732660 D RGD:14985218|PMID:29940770 20191010 RGD protein:increased expression:serum,urine: 2871 Igf2r insulin-like growth factor 2 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:732660 D RGD:2311611|PMID:15531531 20090724 RGD DNA:SNP (human) 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12619036 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:11713 diabetic angiopathy ISO RGD:69038 D RGD:1625238|PMID:16306374 20070530 RGD DNA:SNPs 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:1612 breast cancer ISO RGD:69038 D RGD:2301715|PMID:10069662 20081029 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001) (human) 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:1612 breast cancer no_association ISO RGD:69038 D RGD:2301716|PMID:17287408 20081029 RGD higher serum expression in cases vs controls but association not significant in multivariate analysis (human) 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:289 endometriosis ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:3021 acute kidney failure ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7540432 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69038 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:69038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69038 D RGD:1625238|PMID:16306374 20070530 RGD DNA:SNPs 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20170627 RGD 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 2872 Igfbp1 insulin-like growth factor binding protein 1 gene DOID:9007730 Burns IEP D RGD:12910869|PMID:10827012 20170627 RGD mRNA:increased expression:kidney, liver 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:737357 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:737357 D RGD:10045894|PMID:18479783 20150623 RGD protein:decreased expression:temporal cortex: 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:10763 hypertension IEP D RGD:1626482|PMID:9396554 20070809 RGD mRNA, protein:decreased expression:liver, plasma 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737357 D RGD:10045867|PMID:24106111 20150619 RGD protein:increased expression:aqueous humor of eyeball: 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:1459 hypothyroidism IEP D RGD:1626512|PMID:11834454 20070810 RGD 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:2773 contact dermatitis ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:5082 liver cirrhosis ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737357 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737357 D RGD:1626481|PMID:16915540 20070809 RGD 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9007480 Hyperoxia IEP D RGD:1626492|PMID:16288470 20070809 RGD mRNA:increased expression:lung 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:1626479|PMID:17259371 20070809 RGD 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:1626478|PMID:17426323 20070809 RGD 2873 Igfbp2 insulin-like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:1626479|PMID:17259371 20070809 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:736042 D RGD:1626117|PMID:15844718 20070712 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:0050784 primary progressive multiple sclerosis disease_progression ISO RGD:736042 D RGD:1626118|PMID:15732261 20070712 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:736042 D RGD:12910858|PMID:19207313 20170627 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:736042 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10283 prostate cancer ISO RGD:736042 D RGD:2290008|PMID:17724372 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10283 prostate cancer no_association ISO RGD:736042 D RGD:2290012|PMID:15006930 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10283 prostate cancer severity ISO RGD:736042 D RGD:2290015|PMID:17668637 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10456 tonsillitis treatment ISO RGD:736042 D RGD:12743605|PMID:27738609 20170209 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10534 stomach cancer treatment ISO RGD:736042 D RGD:153344579|PMID:16052530 20220829 RGD human cells in mouse model 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:10774 D RGD:10402572|PMID:24964199 20151027 RGD mRNA:decreased expression:hippocampus 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:736042 D RGD:10402570|PMID:23473966 20151027 RGD protein:increased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:736042 D RGD:10402576|PMID:10399774 20151027 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:2290028|PMID:12544349 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:11476 osteoporosis ISO RGD:736042 D RGD:10402579|PMID:9284698 20151027 RGD protein:decreased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:12241 beta thalassemia ISO RGD:736042 D RGD:12743604|PMID:9666877 20170209 RGD protein:decreased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:736042 D RGD:8548833|PMID:21788435 20140321 RGD protein:increased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:12849 autistic disorder ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:13025 retinopathy of prematurity ISO RGD:736042 D RGD:12743584|PMID:23202391 20170208 RGD associated with Obstetric Labor, Premature; protein:decreased expression:plasma: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:14250 Down syndrome ISO RGD:736042 D RGD:12743600|PMID:9469274 20170209 RGD protein:increased expression:blood: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1485 cystic fibrosis ISO RGD:736042 D RGD:12743589|PMID:15310308 20170208 RGD protein:decreased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:2290011|PMID:15298948 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:2301715|PMID:10069662 20081029 RGD protein:decreased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:2301716|PMID:17287408 20081029 RGD protein:decreased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1612 breast cancer no_association ISO RGD:736042 D RGD:2290009|PMID:12925957 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1697 ichthyosis ISO RGD:736042 D RGD:12743608|PMID:18780604 20170209 RGD protein:decreased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1858 McCune Albright syndrome treatment ISO RGD:736042 D RGD:12743609|PMID:16720661 20170209 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1875 impotence IEP D RGD:10402765|PMID:21595839 20151028 RGD mRNA, protein:increased expression:penis 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:1875 impotence treatment IMP D RGD:10402763|PMID:24576658 20151028 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:2349 arteriosclerosis ISO RGD:736042 D RGD:2313768|PMID:15625284 20091014 RGD protein:increased expression:blood 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736042 D RGD:2301466|PMID:17541304 20081016 RGD DNA:hypermethylation 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:3070 high grade glioma severity ISO RGD:736042 D RGD:8548833|PMID:21788435 20140321 RGD protein:increased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:3491 Turner syndrome ISO RGD:736042 D RGD:12743588|PMID:17067837 20170208 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:3491 Turner syndrome treatment ISO RGD:736042 D RGD:12743598|PMID:22278433 20170209 RGD DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736042 D RGD:1626120|PMID:15681824 20070712 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:10402761|PMID:19844724 20151028 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:418 systemic scleroderma ISO RGD:736042 D RGD:12743606|PMID:19004037 20170209 RGD protein:increased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:4450 renal cell carcinoma ISO RGD:736042 D RGD:2290003|PMID:18076934 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736042 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:736042 D RGD:12743601|PMID:15140235 20170209 RGD mRNA,protein:decreased expression:skin: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:736042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:7147 ankylosing spondylitis ISO RGD:736042 D RGD:10402573|PMID:9851264 20151027 RGD protein:decreased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736042 D RGD:10402575|PMID:18775662 20151027 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:8692 myeloid leukemia ISO RGD:736042 D RGD:12743616|PMID:23716272 20170210 RGD protein:decreased expression:blood: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:2290004|PMID:17709267 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:2290021|PMID:14675666 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9000121 Malocclusion IEP D RGD:10045831|PMID:22758598 20151027 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9000528 Coronary Disease ISO RGD:736042 D RGD:1626121|PMID:15521962 20070712 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:10402581|PMID:16923367 20151027 RGD protein:increased expression:brain 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:12743583|PMID:21924014 20170208 RGD DNA:hypermethylation:promoter: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:12743585|PMID:21823995 20170208 RGD mRNA:increased expression:placenta: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:12743590|PMID:19591553 20170208 RGD protein:decreased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:12743599|PMID:19217707 20170209 RGD protein:increased expression:Amniotic fluid: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:1600258|PMID:15506645 20151028 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:736042 D RGD:10402812|PMID:8619365 20151030 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15318950|PMID:16000583|PMID:24586243 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002407 Spinal Fractures ISO RGD:736042 D RGD:10402578|PMID:9258758 20151027 RGD associated with Osteoporosis;protein:decreased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002427 Fetal Macrosomia ISO RGD:736042 D RGD:12743591|PMID:17113804 20170208 RGD protein:increased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:10402760|PMID:14642797 20151028 RGD mRNA, protein:increased expression:kidney, serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736042 D RGD:2301467|PMID:17332286 20081016 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736042 D RGD:2301468|PMID:16445635 20081016 RGD DNA, protein:hypermethylation, decreased expression:promoter, ovary 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736042 D RGD:2290021|PMID:14675666 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10402756|PMID:10709766 20151028 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736042 D RGD:12910854|PMID:21636299 20170627 RGD protein:increased expression:serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:736042 D RGD:2301465|PMID:17952116 20081016 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9004713 Acute-Phase Reaction treatment ISO RGD:736042 D RGD:10402777|PMID:10714634 20151028 RGD associated with Burns 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2289159|PMID:18068478 20091014 RGD mRNA, protein:increased expression:penis 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10774 D RGD:2313766|PMID:16180585 20091014 RGD protein:increased expression:skeletal muscle 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment IMP D RGD:12743617|PMID:25582342 20170210 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9005930 Endotoxemia IEP D RGD:10402757|PMID:18492809 20151028 RGD mRNA, protein:decreased expression:liver, serum 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9006008 Closed Head Injuries ISO RGD:736042 D RGD:8548865|PMID:12002507 20140324 RGD protein:decreased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9007661 Dwarfism ISO RGD:736042 D RGD:12743603|PMID:17396438 20170209 RGD associated with Anemia, Sickle Cell; 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:736042 D RGD:2313762|PMID:17237715 20091014 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736042 D RGD:2290018|PMID:15159305 20080222 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9007730 Burns IEP D RGD:12910869|PMID:10827012 20170627 RGD mRNA:altered expression:kidney, liver, muscle 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9206 Barrett's esophagus ISO RGD:736042 D RGD:12743582|PMID:18006928 20170208 RGD associated with Aneuploidy; protein:increased expression:serum: 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency treatment ISO RGD:736042 D RGD:12743607|PMID:16703326 20170209 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736042 D RGD:2313767|PMID:16005252 20091014 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736042 D RGD:2313769|PMID:15356074 20091014 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:736042 D RGD:2313765|PMID:16887362 20091014 RGD 2874 Igfbp3 insulin-like growth factor binding protein 3 gene DOID:9970 obesity IEP D RGD:10402755|PMID:22067319 20151028 RGD mRNA, protein:decreased expression:pancreatic fat pad 2875 Igfbp4 insulin-like growth factor binding protein 4 gene DOID:630 genetic disease ISO RGD:69043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:11054 urinary bladder cancer ISO RGD:732384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:3770 pulmonary fibrosis ISO RGD:732384 D RGD:1626120|PMID:15681824 20070712 RGD 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:10402761|PMID:19844724 20151028 RGD 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:630 genetic disease ISO RGD:732384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:9000528 Coronary Disease ISO RGD:732384 D RGD:1626121|PMID:15521962 20070712 RGD 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732384 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:9004657 Weight Gain ISO RGD:732384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20170627 RGD 2876 Igfbp5 insulin-like growth factor binding protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:732384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20354179 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:127 leiomyoma ISO RGD:735616 D RGD:2301708|PMID:15705628 20081029 RGD uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray (human) 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:1612 breast cancer ISO RGD:735616 D RGD:2301715|PMID:10069662 20081029 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016) (human) 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:1612 breast cancer no_association ISO RGD:735616 D RGD:2301716|PMID:17287408 20081029 RGD lower serum expression in cases vs controls but association not significant in multivariate analysis (human) 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:2773 contact dermatitis ISO RGD:735616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:289 endometriosis ISO RGD:735616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:630 genetic disease ISO RGD:735616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:8719 in situ carcinoma ISO RGD:735616 D RGD:2301712|PMID:15123780 20081029 RGD testicular CIS; mRNA:increased expression:tumor (human) 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735616 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15846301 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:735616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:9007692 Insulin Resistance ISO RGD:735616 D RGD:2301717|PMID:15889232 20081029 RGD human transgene overexpressed in mouse brain 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:735616 D RGD:10411880|PMID:23808406 20151110 RGD protein:increased expression:vitreous,serum: 2877 Igfbp6 insulin-like growth factor binding protein 6 gene DOID:9970 obesity ISO RGD:735616 D RGD:2301717|PMID:15889232 20081029 RGD human transgene overexpressed in mouse brain 288083902 CVCL_C7RV Me1 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C60453 288083906 CVCL_C7RX Me3 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C60453 288083908 CVCL_C7RW Me1t cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C60453 288083910 CVCL_C7RZ II-45 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C60453 288083911 CVCL_C7RY II-14 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C60453 288083918 CVCL_C7S0 III-2 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20230419 CELLOSAURUS NCI:C60453 2886 Il10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:11049460|PMID:8704212 20160406 RGD 2886 Il10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 2886 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:10785 D RGD:7364854|PMID:22511846 20131003 RGD 2886 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:11534627|PMID:27468578 20190930 RGD DNA:SNP: :rs3024505 (human) 2886 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:23291587|PMID:27783946|PMID:28411859 2886 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:25741868|PMID:26193622|PMID:28492532|PMID:30290665|PMID:9536098 2886 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease no_association ISO RGD:735591 D RGD:11534627|PMID:27468578 20190930 RGD DNA:SNP: :rs1800896 (human) 2886 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:10785 D RGD:14975125|PMID:31062617 20190927 RGD 2886 Il10 interleukin 10 gene DOID:0050827 rheumatic heart disease no_association ISO RGD:735591 D RGD:1598626|PMID:16043936 20061208 RGD 2886 Il10 interleukin 10 gene DOID:0050848 obstructive sleep apnea IEP D RGD:11049492|PMID:22143914 20160406 RGD 2886 Il10 interleukin 10 gene DOID:0050865 tongue squamous cell carcinoma disease_progression IEP D RGD:8662972|PMID:17338814 20140701 RGD protein:increased expression:serum: 2886 Il10 interleukin 10 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735591 D RGD:14975130|PMID:28157558 20190930 RGD DNA:SNP:promoter:-592A>C (human) 2886 Il10 interleukin 10 gene DOID:0060180 colitis IEP D RGD:7349385|PMID:21949848 20131001 RGD 2886 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:10785 D RGD:7771532|PMID:22461024 20131218 RGD 2886 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19238344|PMID:21807089|PMID:22119709|PMID:24314293 2886 Il10 interleukin 10 gene DOID:0060180 colitis treatment IEP D RGD:7365024|PMID:23771723 20131015 RGD 2886 Il10 interleukin 10 gene DOID:0060189 ileitis ISO RGD:735591 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 2886 Il10 interleukin 10 gene DOID:0060496 respiratory allergy ISO RGD:10785 D RGD:4140460|PMID:20583974 20100830 RGD 2886 Il10 interleukin 10 gene DOID:0060500 drug allergy ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19222424|PMID:20485159 2886 Il10 interleukin 10 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:735591 D RGD:11049165|PMID:19573080 20160405 RGD DNA:SNPs: :multiple 2886 Il10 interleukin 10 gene DOID:0060903 thrombosis ISO RGD:10785 D RGD:1598469|PMID:12765335 20061130 RGD 2886 Il10 interleukin 10 gene DOID:0070344 ocular tuberculosis ISO RGD:735591 D RGD:7364832|PMID:22583692 20131001 RGD protein:increased expression:aqueous humor 2886 Il10 interleukin 10 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10785 D RGD:7364834|PMID:22467659 20131001 RGD 2886 Il10 interleukin 10 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:10785 D RGD:7364815|PMID:23415673 20131001 RGD associated with Murine Acquired Immunodeficiency Syndrome 2886 Il10 interleukin 10 gene DOID:0080178 mucositis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20881642 2886 Il10 interleukin 10 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:735591 D RGD:14975151|PMID:25894568 20191001 RGD associated with morbid obesity 2886 Il10 interleukin 10 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735591 D RGD:14975143|PMID:28852433 20190930 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) 2886 Il10 interleukin 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10785 D RGD:14975163|PMID:28493345 20191001 RGD 2886 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264|PMID:32161940 2886 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 2886 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2886 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:30309957|PMID:32456948 20200624 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) 2886 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 2886 Il10 interleukin 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2886 Il10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:7364859|PMID:21067483 20131003 RGD DNA:SNP:promoter:-819C>T (human) 2886 Il10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:7365083|PMID:11753760 20131017 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:11049171|PMID:7833486 20160405 RGD 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:11049180|PMID:23645090 20160405 RGD DNA:SNPs, haplotypes:promoter:-1082G>A (rs1800896), -819C>T (rs1800871), -592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:11049455|PMID:16928315 20160406 RGD protein:decreased expression:serum 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:7240710 20230517 OMIM 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:735591 D RGD:11046269|PMID:19409109 20160404 RGD DNA:SNP: :rs1800872 (human) 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease no_association ISO RGD:735591 D RGD:11049177|PMID:20195716 20160405 RGD DNA:polymorphisms 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease severity ISO RGD:735591 D RGD:2316565|PMID:9808588 20160405 RGD DNA:repeat:promoter 2886 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:735591 D RGD:11041897|PMID:25034146 20160401 RGD 2886 Il10 interleukin 10 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 2886 Il10 interleukin 10 gene DOID:10140 dry eye syndrome ISO RGD:735591 D RGD:7364807|PMID:23752063 20130930 RGD associated with Sjogren's Syndrome;protein:increased expression:tear 2886 Il10 interleukin 10 gene DOID:1024 leprosy ISO RGD:735591 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 2886 Il10 interleukin 10 gene DOID:10247 pleurisy ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 2886 Il10 interleukin 10 gene DOID:104 bacterial infectious disease ISO RGD:735591 D RGD:7364828|PMID:22668804 20131001 RGD associated with Otitis Media 2886 Il10 interleukin 10 gene DOID:10459 common cold ISO RGD:735591 D RGD:4140458|PMID:20696083 20100830 RGD 2886 Il10 interleukin 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10785 D RGD:10450576|PMID:25219125 20160406 RGD 2886 Il10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:14975135|PMID:28002581 20190930 RGD DNA:SNP:promoter:-819C>T (rs1800871) (human) 2886 Il10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:14975253|PMID:30610790 20191003 RGD 2886 Il10 interleukin 10 gene DOID:10608 celiac disease ISO RGD:735591 D RGD:14975156|PMID:27545437 20191001 RGD 2886 Il10 interleukin 10 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735591 D RGD:1358665|PMID:14746878 19990101 RGD DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) 2886 Il10 interleukin 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10785 D RGD:7364841|PMID:21803105 20131002 RGD 2886 Il10 interleukin 10 gene DOID:1067 open-angle glaucoma ISO RGD:735591 D RGD:7364852|PMID:23788371 20131003 RGD 2886 Il10 interleukin 10 gene DOID:10754 otitis media IEP D RGD:4891398|PMID:18524391 20131016 RGD associated with Haemophilus Infections 2886 Il10 interleukin 10 gene DOID:10754 otitis media IEP D RGD:7365082|PMID:14500471 20131017 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear 2886 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:10785 D RGD:7365029|PMID:18771082 20131015 RGD 2886 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:7364816|PMID:23404508 20131001 RGD associated with Pneumococcal Infections;protein:increased expression:middle ear, serum 2886 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:7365038|PMID:18560870 20131016 RGD associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human) 2886 Il10 interleukin 10 gene DOID:10754 otitis media susceptibility ISO RGD:735591 D RGD:7365054|PMID:17908769 20131016 RGD DNA:SNP:promoter:-1082G>A (human) 2886 Il10 interleukin 10 gene DOID:10763 hypertension IEP D RGD:2311047|PMID:19398662 20090622 RGD 2886 Il10 interleukin 10 gene DOID:10923 sickle cell anemia treatment ISO RGD:10785 D RGD:11046271|PMID:24281564 20160404 RGD 2886 Il10 interleukin 10 gene DOID:11168 anogenital venereal wart ISO RGD:735591 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 2886 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:10785 D RGD:7365027|PMID:19060266 20131015 RGD 2886 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:7364837|PMID:22092652 20131001 RGD 2886 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:7365076|PMID:15144463 20131017 RGD protein:increased expression:tear 2886 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10785|RGD:69096 D RGD:11041889|PMID:16914468 20160401 RGD 2886 Il10 interleukin 10 gene DOID:11247 disseminated intravascular coagulation ISO RGD:735591 D RGD:11049462|PMID:16613997 20160406 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:7365037|PMID:18628987 20131016 RGD protein:increased expression:tear 2886 Il10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:7365085|PMID:11023480 20131018 RGD DNA:SNP:promoter:−1082G>A (human) 2886 Il10 interleukin 10 gene DOID:11265 trachoma no_association ISO RGD:735591 D RGD:7365085|PMID:11023480 20131018 RGD DNA:SNP:promoter:−819T>C, −592A>C (human) 2886 Il10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:7365053|PMID:17947295 20131016 RGD DNA:haplotype: : 2886 Il10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:7365072|PMID:15789056 20131017 RGD DNA:SNP, haplotype:promoter:−1082G>A (human) 2886 Il10 interleukin 10 gene DOID:11394 adult respiratory distress syndrome treatment IEP D RGD:11049486|PMID:22037734 20160406 RGD associated with Sepsis 2886 Il10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment IDA D RGD:7364826|PMID:22889616 20131001 RGD associated with Constriction, Pathologic 2886 Il10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment IEP D RGD:7364836|PMID:22173123 20131001 RGD 2886 Il10 interleukin 10 gene DOID:11714 gestational diabetes ISO RGD:735591 D RGD:2308947|PMID:18446686 20090619 RGD protein:decreased expression:serum 2886 Il10 interleukin 10 gene DOID:118 pericardial effusion severity ISO RGD:735591 D RGD:1598622|PMID:16360340 20061208 RGD 2886 Il10 interleukin 10 gene DOID:12030 panuveitis ISO RGD:735591 D RGD:7364844|PMID:21357402 20131003 RGD associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) 2886 Il10 interleukin 10 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:735591 D RGD:1580480|PMID:11838849 19990101 RGD 2886 Il10 interleukin 10 gene DOID:12134 factor VIII deficiency treatment ISO RGD:735591 D RGD:11049183|PMID:20082647 20160405 RGD DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) 2886 Il10 interleukin 10 gene DOID:12236 primary biliary cholangitis ISO RGD:735591 D RGD:38501106|PMID:17158635 20200818 RGD mRNA:increased expression:liver 2886 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:7364858|PMID:21424183 20131003 RGD DNA:SNP: :rs1800896 (human) 2886 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:7364862|PMID:19882211 20131003 RGD DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) 2886 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:7365026|PMID:19250272 20131015 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:12361 Graves' disease no_association ISO RGD:735591 D RGD:7365074|PMID:15497451 20131017 RGD DNA:SNPs:promoter:multiple 2886 Il10 interleukin 10 gene DOID:12385 shigellosis treatment ISO RGD:10785 D RGD:39938959|PMID:30615126 20201022 RGD 2886 Il10 interleukin 10 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735591 D RGD:4140425|PMID:20209309 20100825 RGD 2886 Il10 interleukin 10 gene DOID:12732 intermediate uveitis ISO RGD:735591 D RGD:7364840|PMID:21850175 20131001 RGD protein:increased expression:aqueous humor 2886 Il10 interleukin 10 gene DOID:12849 autistic disorder ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 2886 Il10 interleukin 10 gene DOID:12849 autistic disorder ISO RGD:735591 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2886 Il10 interleukin 10 gene DOID:12894 Sjogren's syndrome ISO RGD:735591 D RGD:1580479|PMID:12233881 19990101 RGD 2886 Il10 interleukin 10 gene DOID:12930 dilated cardiomyopathy IEP D RGD:2311057|PMID:19242323 20090622 RGD mRNA:decreased expression:heart left ventricle 2886 Il10 interleukin 10 gene DOID:13001 carotid stenosis no_association ISO RGD:735591 D RGD:1598483|PMID:16804000 20061130 RGD 2886 Il10 interleukin 10 gene DOID:13025 retinopathy of prematurity ISO RGD:735591 D RGD:7364863|PMID:19700197 20131003 RGD protein:increased expression:vitreous humor 2886 Il10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:7364845|PMID:20335604 20131003 RGD DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) 2886 Il10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:7365086|PMID:10865312 20131018 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:20622879 2886 Il10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:14975149|PMID:29719061 20191001 RGD DNA, protein:hypermethylation, decreased expression:promoter, serum 2886 Il10 interleukin 10 gene DOID:13241 Behcet's disease disease_progression ISO RGD:735591 D RGD:1598628|PMID:15980236 20061208 RGD 2886 Il10 interleukin 10 gene DOID:13241 Behcet's disease onset ISO RGD:735591 D RGD:14975256|PMID:26654556 20191003 RGD 2886 Il10 interleukin 10 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735591 D RGD:14975131|PMID:29294320 20190930 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:13241 Behcet's disease treatment ISO RGD:10785 D RGD:7364843|PMID:21506890 20131002 RGD 2886 Il10 interleukin 10 gene DOID:13636 Fanconi anemia ISO RGD:735591 D RGD:11049161|PMID:24021704 20160405 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:1380 endometrial cancer ISO RGD:735591 D RGD:2317659|PMID:9119882 20100414 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:10785 D RGD:11049456|PMID:7593621 20160406 RGD 2886 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:1598471|PMID:12117955 20061130 RGD 2886 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:38455982|PMID:25403265 20200806 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome onset ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 2886 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome severity ISO RGD:10785 D RGD:40890272|PMID:28659355 20201208 RGD protein:increased expression:lung (mouse) 2886 Il10 interleukin 10 gene DOID:1417 choroid disease ISO RGD:735591 D RGD:7364844|PMID:21357402 20131003 RGD DNA:SNP:promoter:rs6703630 (human) 2886 Il10 interleukin 10 gene DOID:1459 hypothyroidism IEP D RGD:11049472|PMID:24534949 20160406 RGD 2886 Il10 interleukin 10 gene DOID:1459 hypothyroidism treatment IEP D RGD:38549578|PMID:29896255 20200902 RGD 2886 Il10 interleukin 10 gene DOID:14654 prostatitis IEP D RGD:2311058|PMID:19213347 20090622 RGD protein:increased expression:prostate gland, serum 2886 Il10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12050565 2886 Il10 interleukin 10 gene DOID:1470 major depressive disorder ISO RGD:735591 D RGD:14975122|PMID:30734130 20190927 RGD associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human) 2886 Il10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:14975139|PMID:28662328 20190930 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:14975264|PMID:28868949 20191003 RGD protien:decreased expression:plasma 2886 Il10 interleukin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:735591 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2886 Il10 interleukin 10 gene DOID:1580 diffuse scleroderma ISO RGD:735591 D RGD:5684371|PMID:9034992 20140128 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:1588 thrombocytopenia ISO RGD:735591 D RGD:11049172|PMID:11091188 20160405 RGD 2886 Il10 interleukin 10 gene DOID:1588 thrombocytopenia severity ISO RGD:735591|RGD:1344192|RGD:1352582 D RGD:11041893|PMID:25128199 20160401 RGD associated with Malaria, Vivax 2886 Il10 interleukin 10 gene DOID:1754 mitral valve stenosis ISO RGD:735591 D RGD:1598624|PMID:16155388 20061208 RGD 2886 Il10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:14975253|PMID:30610790 20191003 RGD 2886 Il10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:2317655|PMID:17235586 20100414 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735591 D RGD:14975257|PMID:30304975 20191003 RGD 2886 Il10 interleukin 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735591 D RGD:2317653|PMID:19250218 20100414 RGD DNA:polymorphism: :-1082G>A (human) 2886 Il10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:14975144|PMID:28340949 20190930 RGD DNA:SNPs: :multiple 2886 Il10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:2308942|PMID:19302182 20090619 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:1883 hepatitis C no_association ISO RGD:735591 D RGD:14975144|PMID:28340949 20190930 RGD DNA:SNPs: :rs1800896 (human) 2886 Il10 interleukin 10 gene DOID:2043 hepatitis B no_association ISO RGD:735591 D RGD:14975150|PMID:27644568 20191001 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human) 2886 Il10 interleukin 10 gene DOID:2043 hepatitis B treatment ISO RGD:735591 D RGD:14975150|PMID:27644568 20191001 RGD DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) 2886 Il10 interleukin 10 gene DOID:2048 autoimmune hepatitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2886 Il10 interleukin 10 gene DOID:219 colon cancer ISO RGD:735591 D RGD:11534627|PMID:27468578 20190930 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:219 colon cancer no_association ISO RGD:735591 D RGD:11534627|PMID:27468578 20190930 RGD DNA:SNP: :rs1800896 (human) 2886 Il10 interleukin 10 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7364868|PMID:24053818 20131003 RGD 2886 Il10 interleukin 10 gene DOID:2349 arteriosclerosis ISO RGD:10785 D RGD:1598469|PMID:12765335 20061130 RGD 2886 Il10 interleukin 10 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:735591 D RGD:1598477|PMID:16523426 20061130 RGD 2886 Il10 interleukin 10 gene DOID:2355 anemia severity ISO RGD:735591 D RGD:11049182|PMID:9635949 20160405 RGD associated with Malaria;protein:decreased expression:plasma 2886 Il10 interleukin 10 gene DOID:2377 multiple sclerosis ISO RGD:735591 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 2886 Il10 interleukin 10 gene DOID:2394 ovarian cancer ISO RGD:735591 D RGD:2317660|PMID:9166545 20100414 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:2841 asthma IEP D RGD:4140421|PMID:20230687 20100825 RGD protein:decreased expression:plasma 2886 Il10 interleukin 10 gene DOID:2841 asthma IGI RGD:2515 D RGD:5131623|PMID:20560982 20100830 RGD 2886 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:10785 D RGD:4140459|PMID:20644177 20100830 RGD 2886 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:10785 D RGD:4140471|PMID:20237464 20100831 RGD 2886 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29317916 2886 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:4140451|PMID:20121766 20100830 RGD 2886 Il10 interleukin 10 gene DOID:2841 asthma susceptibility ISO RGD:735591 D RGD:4143221|PMID:12938145 20100920 RGD DNA:polymorphism: :-627C>A (human) 2886 Il10 interleukin 10 gene DOID:2841 asthma treatment ISO RGD:10785 D RGD:11046261|PMID:21998459 20160404 RGD 2886 Il10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:735591 D RGD:11049178|PMID:15718915 20160405 RGD DNA:SNP:promoter:-592A>C (human) 2886 Il10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency no_association ISO RGD:735591 D RGD:11049178|PMID:15718915 20160405 RGD DNA:SNPs:promoter:-1082G>A, -819T>C (human) 2886 Il10 interleukin 10 gene DOID:289 endometriosis ISO RGD:735591 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 2886 Il10 interleukin 10 gene DOID:289 endometriosis treatment IDA D RGD:11049494|PMID:21665488 20160406 RGD 2886 Il10 interleukin 10 gene DOID:2913 acute pancreatitis ISO RGD:735591 D RGD:14975140|PMID:27173345 20190930 RGD DNA:SNP:promoter:-1082G>A (human) 2886 Il10 interleukin 10 gene DOID:2913 acute pancreatitis no_association ISO RGD:735591 D RGD:14975140|PMID:27173345 20190930 RGD DNA:SNP:promoter: -819T>C (human) 2886 Il10 interleukin 10 gene DOID:2921 glomerulonephritis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 2886 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome IEP D RGD:32726073|PMID:16409721 20200701 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) 2886 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:735591 D RGD:33769580|PMID:15865221 20200702 RGD 2886 Il10 interleukin 10 gene DOID:3021 acute kidney failure ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 2886 Il10 interleukin 10 gene DOID:3042 allergic contact dermatitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 2886 Il10 interleukin 10 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:10785 D RGD:7364806|PMID:23760007 20130930 RGD 2886 Il10 interleukin 10 gene DOID:3070 high grade glioma susceptibility ISO RGD:735591 D RGD:4140470|PMID:20406895 20100831 RGD DNA:SNP: :rs1800896 (human) 2886 Il10 interleukin 10 gene DOID:3229 gastric dilatation ISO RGD:10785 D RGD:14975138|PMID:30249047 20190930 RGD 2886 Il10 interleukin 10 gene DOID:3234 central nervous system lymphoma ISO RGD:735591 D RGD:7364831|PMID:22628023 20131001 RGD DNA:SNP:promoter:-1082G>A (human) 2886 Il10 interleukin 10 gene DOID:3310 atopic dermatitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 2886 Il10 interleukin 10 gene DOID:3310 atopic dermatitis treatment ISO RGD:10785 D RGD:7364805|PMID:23843958 20130930 RGD 2886 Il10 interleukin 10 gene DOID:3393 coronary artery disease ISO RGD:735591 D RGD:1598621|PMID:16460885 20061208 RGD 2886 Il10 interleukin 10 gene DOID:3393 coronary artery disease no_association ISO RGD:735591 D RGD:14975129|PMID:29525679 20190930 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) 2886 Il10 interleukin 10 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735591 D RGD:14975129|PMID:29525679 20190930 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) 2886 Il10 interleukin 10 gene DOID:3407 carotid artery disease ISO RGD:735591 D RGD:1598484|PMID:16801669 20061130 RGD 2886 Il10 interleukin 10 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:10785 D RGD:242905192|PMID:28630232 20230327 RGD 2886 Il10 interleukin 10 gene DOID:3526 cerebral infarction treatment ISO RGD:10785 D RGD:155260331|PMID:29111308 20220930 RGD 2886 Il10 interleukin 10 gene DOID:3571 liver cancer ISO RGD:735591 D RGD:14975253|PMID:30610790 20191003 RGD 2886 Il10 interleukin 10 gene DOID:3602 toxic encephalopathy treatment IDA D RGD:7364985|PMID:23916895 20131014 RGD 2886 Il10 interleukin 10 gene DOID:37 skin disease ISO RGD:735591 D RGD:7364846|PMID:21357384 20131003 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:−3575T>A (human) 2886 Il10 interleukin 10 gene DOID:37 skin disease severity ISO RGD:735591 D RGD:7364846|PMID:21357384 20131003 RGD associated with Arsenic Poisoning 2886 Il10 interleukin 10 gene DOID:37 skin disease susceptibility ISO RGD:735591 D RGD:7364846|PMID:21357384 20190918 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:���3575T>A (human) 2886 Il10 interleukin 10 gene DOID:3721 plasmacytoma ISO RGD:10785 D RGD:11049175|PMID:26140236 20160405 RGD 2886 Il10 interleukin 10 gene DOID:3825 Shwartzman phenomenon ISO RGD:10785 D RGD:11049456|PMID:7593621 20160406 RGD 2886 Il10 interleukin 10 gene DOID:3904 bronchus carcinoma ISO RGD:735591 D RGD:4143231|PMID:8030748 20100920 RGD protein:increased expression:lung 2886 Il10 interleukin 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 2886 Il10 interleukin 10 gene DOID:4362 cervical cancer disease_progression ISO RGD:735591 D RGD:2317658|PMID:9541628 20100414 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:4404 occupational dermatitis ISO RGD:735591 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 2886 Il10 interleukin 10 gene DOID:4481 allergic rhinitis ISO RGD:735591 D RGD:7364793|PMID:23883806 20130927 RGD 2886 Il10 interleukin 10 gene DOID:4481 allergic rhinitis treatment ISO RGD:10785 D RGD:7364818|PMID:23253209 20131001 RGD 2886 Il10 interleukin 10 gene DOID:4780 anti-basement membrane glomerulonephritis treatment IDA D RGD:7365004|PMID:23826305 20131015 RGD 2886 Il10 interleukin 10 gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:735591 D RGD:2317654|PMID:19065724 20100414 RGD associated with Cholelithiasis 2886 Il10 interleukin 10 gene DOID:4989 pancreatitis IEP D RGD:2306925|PMID:19399939 20090622 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:5041 esophageal cancer treatment ISO RGD:735591 D RGD:152998997|PMID:26603620 20220715 RGD 2886 Il10 interleukin 10 gene DOID:5082 liver cirrhosis ISO RGD:735591 D RGD:14975152|PMID:26909998 20191001 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) 2886 Il10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:14975134|PMID:27660094 20190930 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human) 2886 Il10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:14975152|PMID:26909998 20191001 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:5082 liver cirrhosis severity ISO RGD:735591 D RGD:14975134|PMID:27660094 20190930 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human) 2886 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10202824 2886 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:7240710 20230517 OMIM 2886 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:25741868|PMID:28492532 2886 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735591 D RGD:7365087|PMID:10666520 20131018 RGD 2886 Il10 interleukin 10 gene DOID:5419 schizophrenia ISO RGD:735591 D RGD:1580481|PMID:11922883 19990101 RGD 2886 Il10 interleukin 10 gene DOID:552 pneumonia disease_progression ISO RGD:735591 D RGD:4140400|PMID:20595152 20100825 RGD protein:increased expression:blood 2886 Il10 interleukin 10 gene DOID:5679 retinal disease ISO RGD:735591 D RGD:7364850|PMID:21273540 20131003 RGD 2886 Il10 interleukin 10 gene DOID:5679 retinal disease treatment ISO RGD:10785 D RGD:7364808|PMID:23720065 20130930 RGD 2886 Il10 interleukin 10 gene DOID:5844 myocardial infarction ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 2886 Il10 interleukin 10 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735591 D RGD:1598480|PMID:15466015 20061130 RGD 2886 Il10 interleukin 10 gene DOID:6000 congestive heart failure IEP D RGD:14975271|PMID:28939262 20191003 RGD 2886 Il10 interleukin 10 gene DOID:6000 congestive heart failure disease_progression IEP D RGD:1598465|PMID:16461369 20061130 RGD mRNA, protein:decreased expression:cardiac ventricle (rat) 2886 Il10 interleukin 10 gene DOID:6000 congestive heart failure treatment IEP D RGD:7365020|PMID:23778495 20131015 RGD 2886 Il10 interleukin 10 gene DOID:630 genetic disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2886 Il10 interleukin 10 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735591 D RGD:4142530|PMID:20713898 20100903 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:684 hepatocellular carcinoma ISO RGD:735591 D RGD:14975171|PMID:26890368 20191001 RGD 2886 Il10 interleukin 10 gene DOID:684 hepatocellular carcinoma treatment IDA D RGD:7365006|PMID:23822114 20131015 RGD 2886 Il10 interleukin 10 gene DOID:686 liver carcinoma ISO RGD:735591 D RGD:14975157|PMID:28763918 20191001 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 2886 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:7240710 20230517 OMIM 2886 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 2886 Il10 interleukin 10 gene DOID:718 autoimmune hemolytic anemia treatment ISO RGD:10785 D RGD:11049457|PMID:12093879 20160406 RGD 2886 Il10 interleukin 10 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20201001 RGD protein:decreased expression:serum (rat) 2886 Il10 interleukin 10 gene DOID:7997 thyrotoxicosis IEP D RGD:2311054|PMID:19343192 20090622 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:7998 hyperthyroidism IEP D RGD:11049472|PMID:24534949 20160406 RGD 2886 Il10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:10785 D RGD:7364857|PMID:21474590 20131003 RGD associated with Graves Disease 2886 Il10 interleukin 10 gene DOID:820 myocarditis IDA D RGD:1598481|PMID:17042978 20061130 RGD 2886 Il10 interleukin 10 gene DOID:820 myocarditis treatment ISO RGD:10785 D RGD:7364847|PMID:21333491 20131003 RGD associated with Coxsackievirus Infections 2886 Il10 interleukin 10 gene DOID:824 periodontitis IEP D RGD:7364998|PMID:23843954 20131015 RGD 2886 Il10 interleukin 10 gene DOID:824 periodontitis treatment IEP D RGD:14975259|PMID:30405072 20191003 RGD associated with type 2 diabetes mellitus 2886 Il10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:10785 D RGD:14975132|PMID:27795360 20190930 RGD 2886 Il10 interleukin 10 gene DOID:8337 appendicitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 2886 Il10 interleukin 10 gene DOID:8437 intestinal obstruction IEP D RGD:2311052|PMID:19377777 20090622 RGD protein:decreased expression:serum 2886 Il10 interleukin 10 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:735591 D RGD:7365056|PMID:17438520 20131016 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:850 lung disease IDA D RGD:2311048|PMID:19386070 20090622 RGD Acute Lung Injury 2886 Il10 interleukin 10 gene DOID:850 lung disease IEP D RGD:4140396|PMID:20663303 20100825 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung 2886 Il10 interleukin 10 gene DOID:850 lung disease IEP D RGD:4140398|PMID:20622590 20100825 RGD associated with Shock, Hemorrhagic 2886 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:735591 D RGD:36947872|PMID:24292748 20200805 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: 2886 Il10 interleukin 10 gene DOID:8536 herpes zoster ISO RGD:735591 D RGD:8663478|PMID:21954956 20140703 RGD protein:decreased expression:: 2886 Il10 interleukin 10 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:735591 D RGD:11049154|PMID:20305143 20160405 RGD 2886 Il10 interleukin 10 gene DOID:8564 lip cancer ISO RGD:735591 D RGD:14975265|PMID:26723902 20191003 RGD 2886 Il10 interleukin 10 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:735591 D RGD:11049168|PMID:21466366 20160405 RGD 2886 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18836448|PMID:20228799 2886 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:14975153|PMID:28120341 20191001 RGD 2886 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:14975255|PMID:26660358 20191003 RGD 2886 Il10 interleukin 10 gene DOID:865 vasculitis ISO RGD:735591 D RGD:1598487|PMID:16504995 20061130 RGD 2886 Il10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:10785 D RGD:11049491|PMID:22450025 20160406 RGD 2886 Il10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis treatment IDA D RGD:7365018|PMID:23783008 20131015 RGD 2886 Il10 interleukin 10 gene DOID:8717 decubitus ulcer IEP D RGD:11049489|PMID:26177082 20160406 RGD mRNA:increased expression:skin 2886 Il10 interleukin 10 gene DOID:874 bacterial pneumonia severity ISO RGD:10785 D RGD:38501102|PMID:25398094 20200818 RGD 2886 Il10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:10785 D RGD:14975133|PMID:29899181 20190930 RGD 2886 Il10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 2886 Il10 interleukin 10 gene DOID:8778 Crohn's disease treatment ISO RGD:735591 D RGD:11049181|PMID:11113068 20160405 RGD 2886 Il10 interleukin 10 gene DOID:8893 psoriasis onset ISO RGD:735591 D RGD:7829824|PMID:11298547 20140128 RGD DNA:SNP:promoter:-1082G>A (human) 2886 Il10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:11041894|PMID:25051072 20160401 RGD DNA:SNP:promoter:-627C>A (human) 2886 Il10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:11046267|PMID:22677268 20160404 RGD DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) 2886 Il10 interleukin 10 gene DOID:893 Wilson disease ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 2886 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:1598486|PMID:16696964 20061130 RGD 2886 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:2307061|PMID:18978347 20090623 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor 2886 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:7364856|PMID:22105495 20131003 RGD associated with Diabetes Mellitus, Type 2 2886 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735591 D RGD:2307272|PMID:18988929 20090619 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 2886 Il10 interleukin 10 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:14975124|PMID:29691718 20190927 RGD 2886 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis ISO RGD:10785 D RGD:11049170|PMID:16982822 20160405 RGD associated with Helicobacter Infections 2886 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:11049485|PMID:25727887 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 2886 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10785 D RGD:14975260|PMID:27815529 20191003 RGD 2886 Il10 interleukin 10 gene DOID:9000173 Eye Burns treatment IDA D RGD:7364851|PMID:22553604 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19222424 2886 Il10 interleukin 10 gene DOID:9000656 Penetrating Wounds IDA D RGD:11049529|PMID:26101070 20160407 RGD associated with Diabetes Mellitus, Experimental 2886 Il10 interleukin 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735591 D RGD:4140467|PMID:20406594 20100830 RGD 2886 Il10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:11049496|PMID:23968122 20160406 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries treatment IDA D RGD:7365012|PMID:23788042 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment IEP D RGD:11049527|PMID:26270535 20160407 RGD associated with Diabetes Mellitus, Experimental 2886 Il10 interleukin 10 gene DOID:9000945 Ventilator-Induced Lung Injury treatment IDA D RGD:11049495|PMID:22106021 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9000945 Ventilator-Induced Lung Injury treatment IDA D RGD:7364989|PMID:23890086 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735591 D RGD:1598627|PMID:16035616 20061208 RGD 2886 Il10 interleukin 10 gene DOID:9000998 Brain Injuries ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2886 Il10 interleukin 10 gene DOID:9000998 Brain Injuries severity ISO RGD:735591 D RGD:7364822|PMID:23075771 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9000998 Brain Injuries treatment IDA D RGD:7364983|PMID:23971414 20131014 RGD 2886 Il10 interleukin 10 gene DOID:9001004 Chronic Periodontitis ISO RGD:735591 D RGD:14975127|PMID:31055876 20190927 RGD DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) 2886 Il10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10785 D RGD:7365068|PMID:16903779 20131017 RGD 2886 Il10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10785 D RGD:7364853|PMID:22802947 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10785 D RGD:7364825|PMID:22940620 20131001 RGD mRNA, protein:increased expression:lung 2886 Il10 interleukin 10 gene DOID:9001204 Dyspepsia ISO RGD:735591 D RGD:14975154|PMID:28965252 20191001 RGD DNA:SNP:promoter:-819C>A (rs1800871)(human) 2886 Il10 interleukin 10 gene DOID:9001204 Dyspepsia no_association ISO RGD:735591 D RGD:14975154|PMID:28965252 20191001 RGD DNA:SNP:promoter:-1082G>A (rs1800896)(human) 2886 Il10 interleukin 10 gene DOID:9001472 Nasal Polyps ISO RGD:735591 D RGD:7364835|PMID:22462754 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9001488 Human Influenza susceptibility ISO RGD:10785 D RGD:4140426|PMID:20200252 20100825 RGD 2886 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12632514|PMID:15362042|PMID:16097045|PMID:16126171|PMID:16539848|PMID:16552806|PMID:16609999|PMID:16688825|PMID:18251166 2886 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:7364982|PMID:23980370 20131014 RGD 2886 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:11049490|PMID:24993843 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9001600 Wounds and Injuries IEP D RGD:1598466|PMID:14715528 20061130 RGD 2886 Il10 interleukin 10 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2311060|PMID:19160132 20090622 RGD protein:increased expression:serum, lymph 2886 Il10 interleukin 10 gene DOID:9001981 Weight Loss ISO RGD:735591 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:24314293|PMID:27580383 2886 Il10 interleukin 10 gene DOID:9001995 Actinic Cheilitis ISO RGD:735591 D RGD:14975265|PMID:26723902 20191003 RGD 2886 Il10 interleukin 10 gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:7364839|PMID:21911118 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735591 D RGD:2308943|PMID:19031431 20090619 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) 2886 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia IEP D RGD:7364792|PMID:23957449 20130927 RGD associated with Sciatic Neuropathy 2886 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7582491|PMID:17174526 2886 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment IDA D RGD:7364827|PMID:22820166 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:735591 D RGD:7364865|PMID:24077211 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735591 D RGD:11049165|PMID:19573080 20160405 RGD DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) 2886 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:11041895|PMID:22945689 20160401 RGD 2886 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:11049174|PMID:10638947 20160405 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:735591 D RGD:11049165|PMID:19573080 20160405 RGD DNA:SNPs: :multiple 2886 Il10 interleukin 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284379|PMID:17999153|PMID:18174250 2886 Il10 interleukin 10 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IEP D RGD:13702882|PMID:19907173 20200909 RGD 2886 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis IEP D RGD:2311059|PMID:19193354 20090622 RGD 2886 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis IEP D RGD:8662976|PMID:19169271 20140701 RGD protein:decreased expression:serum: 2886 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20974942|PMID:22450443 2886 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:1626677|PMID:15270736 20070816 RGD 2886 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:7364838|PMID:22052031 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:7193038|PMID:23140046 20140131 RGD 2886 Il10 interleukin 10 gene DOID:9002720 Splenomegaly ISO RGD:10785 D RGD:7365027|PMID:19060266 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:7364993|PMID:23872438 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9002805 Enterocolitis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17574631 2886 Il10 interleukin 10 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2886 Il10 interleukin 10 gene DOID:9002906 Multiple Organ Failure ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10479408 2886 Il10 interleukin 10 gene DOID:9003610 Asthenopia ISO RGD:10785 D RGD:7364861|PMID:20415740 20131003 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:9003688 Toxoplasma Chorioretinitis ISO RGD:735591 D RGD:7365046|PMID:18436829 20131016 RGD DNA:SNP:promoter:−1082G>A (human) 2886 Il10 interleukin 10 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735591 D RGD:1598472|PMID:16807647 20061130 RGD 2886 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury IDA D RGD:5508171|PMID:12388354 20120321 RGD 2886 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury IEP D RGD:2308950|PMID:19514843 20090619 RGD 2886 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 2886 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:1598625|PMID:16141682 20061208 RGD 2886 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:14700655|PMID:26095186 20190808 RGD protein:increased expression:serum: 2886 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:14975141|PMID:29247709 20190930 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:735591 D RGD:14975141|PMID:29247709 20190930 RGD DNA:SNP:promoter: rs3021094, rs3024498 (human) 2886 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:735591 D RGD:14700655|PMID:26095186 20190808 RGD DNA:polymorphism:promoter: 2886 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735591 D RGD:38456002|PMID:25708446 20200810 RGD 2886 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment IDA D RGD:7364994|PMID:23870834 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:10785 D RGD:7364833|PMID:22564629 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:735591 D RGD:11049523|PMID:17275523 20160407 RGD 2886 Il10 interleukin 10 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 2886 Il10 interleukin 10 gene DOID:9004422 Chagas Cardiomyopathy treatment IDA D RGD:7364866|PMID:24055715 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9004484 Sepsis IEP D RGD:2311053|PMID:19371254 20090622 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:10785 D RGD:14975261|PMID:28108420 20191003 RGD 2886 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11441115 2886 Il10 interleukin 10 gene DOID:9004484 Sepsis treatment IDA D RGD:7364867|PMID:24055021 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:10785 D RGD:14975262|PMID:27488951 20191003 RGD 2886 Il10 interleukin 10 gene DOID:9004538 Hearing Loss treatment IDA D RGD:7364829|PMID:22644021 20131001 RGD associated with Meningitis, Pneumococcal 2886 Il10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:10785 D RGD:7364842|PMID:21697956 20131002 RGD associated with Autoimmune Diseases 2886 Il10 interleukin 10 gene DOID:9004590 Acute Liver Failure ISO RGD:735591 D RGD:14975142|PMID:30109600 20190930 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury IEP D RGD:7365008|PMID:23801594 20131015 RGD associated with Reperfusion Injury;protein:increased expression:lung, plasma 2886 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:735591 D RGD:14975158|PMID:30412745 20191001 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) 2886 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury no_association ISO RGD:735591 D RGD:14975158|PMID:30412745 20191001 RGD DNA:SNP:promoter:rs3021097 (human) 2886 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury treatment IDA D RGD:7364984|PMID:23902576 20131014 RGD 2886 Il10 interleukin 10 gene DOID:9004649 Heat Stroke ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2886 Il10 interleukin 10 gene DOID:9004932 Eales Disease ISO RGD:735591 D RGD:7364860|PMID:20720222 20131003 RGD DNA:SNP, haplotype:promoter 2886 Il10 interleukin 10 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10785 D RGD:7365028|PMID:19026704 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9005172 Lung Neoplasms ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14587096 2886 Il10 interleukin 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14999141 2886 Il10 interleukin 10 gene DOID:9005372 Inflammation IEP D RGD:7364996|PMID:23861957 20131015 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:4140417|PMID:20304473 20100825 RGD 2886 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:4140420|PMID:20357828 20100825 RGD associated with Pneumonia 2886 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 2886 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:14975136|PMID:26802082 20190930 RGD associated with inflammatory bowel disease 2886 Il10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2308945|PMID:18787467 20090619 RGD protein:increase expression:serum 2886 Il10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10785 D RGD:2308946|PMID:18779928 20090619 RGD 2886 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:10785 D RGD:7365052|PMID:18390724 20131016 RGD 2886 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression IEP D RGD:155791448|PMID:31209505 20221219 RGD 2886 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10785 D RGD:7365044|PMID:18495789 20131016 RGD 2886 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10785 D RGD:7365069|PMID:16043105 20131017 RGD 2886 Il10 interleukin 10 gene DOID:9005700 Airway Obstruction susceptibility ISO RGD:735591 D RGD:4142510|PMID:17690329 20100903 RGD DNA:SNPs (human) 2886 Il10 interleukin 10 gene DOID:9005930 Endotoxemia IEP D RGD:2311055|PMID:19302852 20090622 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:10785 D RGD:14975137|PMID:28664613 20190930 RGD 2886 Il10 interleukin 10 gene DOID:9005930 Endotoxemia treatment ISO RGD:10785 D RGD:14975170|PMID:27943364 20191001 RGD 2886 Il10 interleukin 10 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:735591 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 2886 Il10 interleukin 10 gene DOID:9005941 Rhinosinusitis ISO RGD:735591 D RGD:7364820|PMID:23168151 20131001 RGD protein:decreased expression:blood, mononuclear cell 2886 Il10 interleukin 10 gene DOID:9005968 Neuralgia IDA D RGD:1598632|PMID:16949747 20061208 RGD 2886 Il10 interleukin 10 gene DOID:9005968 Neuralgia treatment IMP D RGD:11049468|PMID:25078297 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:735591 D RGD:7364865|PMID:24077211 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9006205 Animal Disease Models ISO RGD:735591 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27580383|PMID:28411859 2886 Il10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10785 D RGD:14975137|PMID:28664613 20190930 RGD 2886 Il10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:7364864|PMID:24079335 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9006549 Enterovirus Infections severity ISO RGD:735591 D RGD:14975146|PMID:28843383 20191001 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10785 D RGD:7364815|PMID:23415673 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10785 D RGD:7365075|PMID:15240742 20131017 RGD 2886 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10785 D RGD:7365084|PMID:11359436 20131018 RGD 2886 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment IDA D RGD:7364849|PMID:21296818 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10785 D RGD:7364830|PMID:22629453 20131001 RGD 2886 Il10 interleukin 10 gene DOID:9006644 Retroviridae Infections ISO RGD:10785 D RGD:11049463|PMID:11369878 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9006709 Primary Graft Dysfunction treatment IDA D RGD:11049478|PMID:21911153 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735591 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 2886 Il10 interleukin 10 gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:7247697|PMID:23843977 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10785 D RGD:7364804|PMID:23878501 20130930 RGD 2886 Il10 interleukin 10 gene DOID:9007096 Stroke IEP D RGD:7364869|PMID:23981596 20131003 RGD mRNA:increased expression:brain 2886 Il10 interleukin 10 gene DOID:9007096 Stroke no_association ISO RGD:735591 D RGD:1598623|PMID:16323614 20061208 RGD 2886 Il10 interleukin 10 gene DOID:9007096 Stroke severity ISO RGD:10785 D RGD:1598629|PMID:15894335 20061208 RGD 2886 Il10 interleukin 10 gene DOID:9007096 Stroke treatment IDA D RGD:7365015|PMID:23786953 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9007204 Dysbiosis treatment IEP D RGD:38549571|PMID:32227764 20200902 RGD 2886 Il10 interleukin 10 gene DOID:9007329 Human Viral Hepatitis ISO RGD:735591 D RGD:14975142|PMID:30109600 20190930 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) 2886 Il10 interleukin 10 gene DOID:9007558 Acute Experimental Pancreatitis treatment IEP D RGD:11049477|PMID:25323753 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9007651 Chronic Bronchitis IEP D RGD:2308951|PMID:19507274 20090619 RGD protein:decreased expression:lung 2886 Il10 interleukin 10 gene DOID:9007730 Burns ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 2886 Il10 interleukin 10 gene DOID:9007730 Burns treatment IEP D RGD:11049470|PMID:22341647 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2311056|PMID:19275881 20090622 RGD protein:increased expression:plasma 2886 Il10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:7365001|PMID:23840272 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:10785 D RGD:14975123|PMID:30695099 20190927 RGD 2886 Il10 interleukin 10 gene DOID:9008103 Seasonal Allergic Rhinitis treatment ISO RGD:735591 D RGD:7365025|PMID:19505388 20131015 RGD 2886 Il10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:735591 D RGD:11049164|PMID:22239992 20160405 RGD DNA:repeats, haplotype:promoter 2886 Il10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia no_association ISO RGD:735591 D RGD:11049164|PMID:22239992 20160405 RGD DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) 2886 Il10 interleukin 10 gene DOID:9008227 Pregnancy-associated Malaria ISO RGD:735591 D RGD:11041890|PMID:24717969 20160405 RGD 2886 Il10 interleukin 10 gene DOID:9008763 Femoral Fractures IEP D RGD:5131471|PMID:21442011 20120321 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:9008865 Entamoebiasis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 2886 Il10 interleukin 10 gene DOID:9008885 Staphylococcal Infections treatment IDA D RGD:7364979|PMID:23993644 20131014 RGD 2886 Il10 interleukin 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735591 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29582634 2886 Il10 interleukin 10 gene DOID:9065 leishmaniasis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:20404924 2886 Il10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:20728533 2886 Il10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:1580478|PMID:12486603 19990101 RGD 2886 Il10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 2886 Il10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:38455981|PMID:29205403 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: 2886 Il10 interleukin 10 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735591|RGD:1352582 D RGD:11046264|PMID:23357299 20160404 RGD 2886 Il10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15716043|PMID:17404324|PMID:22461696 2886 Il10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:14975172|PMID:29745990 20191001 RGD 2886 Il10 interleukin 10 gene DOID:916 liver benign neoplasm treatment IEP D RGD:11049493|PMID:25168696 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735591 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2886 Il10 interleukin 10 gene DOID:9351 diabetes mellitus ISO RGD:735591 D RGD:7364853|PMID:22802947 20131003 RGD 2886 Il10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735591 D RGD:14975146|PMID:28843383 20191001 RGD 2886 Il10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735591 D RGD:2308943|PMID:19031431 20090619 RGD DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) 2886 Il10 interleukin 10 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 2886 Il10 interleukin 10 gene DOID:9452 fatty liver disease IEP D RGD:2308948|PMID:18267346 20090619 RGD associated with Diabetes Mellitus 2886 Il10 interleukin 10 gene DOID:9478 postpartum depression IEP D RGD:1598630|PMID:17033197 20061208 RGD 2886 Il10 interleukin 10 gene DOID:9498 pulmonary eosinophilia ISO RGD:735591 D RGD:4140455|PMID:20796249 20100830 RGD protein:increased expression:lung 2886 Il10 interleukin 10 gene DOID:9538 multiple myeloma ISO RGD:735591 D RGD:11041888|PMID:11307152 20160401 RGD DNA:SNP, polymorphisms:promoter:-1082G>A, (human) 2886 Il10 interleukin 10 gene DOID:9538 multiple myeloma disease_progression ISO RGD:735591 D RGD:11049458|PMID:11022130 20160406 RGD protein:increased expression:serum 2886 Il10 interleukin 10 gene DOID:9663 aphthous stomatitis ISO RGD:735591 D RGD:14975145|PMID:27266194 20191001 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) 2886 Il10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 2886 Il10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:2308949|PMID:17997340 20090619 RGD 2886 Il10 interleukin 10 gene DOID:9778 irritable bowel syndrome ISO RGD:735591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12404228 2886 Il10 interleukin 10 gene DOID:9784 trichinosis ISO RGD:10785 D RGD:11049476|PMID:23465441 20160406 RGD 2886 Il10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735591 D RGD:11049158|PMID:21653647 20160405 RGD protein:decreased expression:blood 2886 Il10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735591 D RGD:11049169|PMID:15860861 20160405 RGD 2886 Il10 interleukin 10 gene DOID:9970 obesity IEP D RGD:2308945|PMID:18787467 20090619 RGD protein:increase expression:serum 2886 Il10 interleukin 10 gene DOID:9970 obesity ISO RGD:735591 D RGD:14975146|PMID:28843383 20191001 RGD 2887 Il15 interleukin 15 gene DOID:0060496 respiratory allergy ISO RGD:737535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 2887 Il15 interleukin 15 gene DOID:10247 pleurisy ISO RGD:737535 D RGD:4990464|PMID:10823416 20110301 RGD 2887 Il15 interleukin 15 gene DOID:10533 viral pneumonia ISO RGD:10786 D RGD:4892670|PMID:20335267 20110301 RGD 2887 Il15 interleukin 15 gene DOID:10608 celiac disease ISO RGD:737535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23269601 2887 Il15 interleukin 15 gene DOID:11162 respiratory failure ISO RGD:737535 D RGD:4888530|PMID:20003352 20110301 RGD associated with Influenza 2887 Il15 interleukin 15 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737535 D RGD:5128683|PMID:21062445 20110301 RGD associated with Influenza;protein:increased expression:serum 2887 Il15 interleukin 15 gene DOID:11573 listeriosis IEP D RGD:1626618|PMID:9826341 20070813 RGD protein:increased expression:epithelial cell, intestine 2887 Il15 interleukin 15 gene DOID:11716 prediabetes syndrome ISO RGD:10786 D RGD:2313578|PMID:11832994 20091002 RGD 2887 Il15 interleukin 15 gene DOID:12849 autistic disorder ISO RGD:737535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18929414 2887 Il15 interleukin 15 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737535 D RGD:4990461|PMID:11742275 20110301 RGD mRNA, protein:increased expression:lung 2887 Il15 interleukin 15 gene DOID:13564 aspergillosis ISO RGD:737535 D RGD:4981337|PMID:16893395 20110301 RGD DNA:polymorphism (human) 2887 Il15 interleukin 15 gene DOID:178 vascular disease ISO RGD:10786 D RGD:1626609|PMID:16321364 20070813 RGD mRNA, protein:increased expression:carotid artery 2887 Il15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:10786 D RGD:1626612|PMID:11485899 20070813 RGD mRNA:increased expression:macrophage, aorta 2887 Il15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:737535 D RGD:1626612|PMID:11485899 20070813 RGD mRNA:increased expression:carotid 2887 Il15 interleukin 15 gene DOID:2841 asthma ISO RGD:10786 D RGD:4990462|PMID:11160248 20110301 RGD 2887 Il15 interleukin 15 gene DOID:2841 asthma ISO RGD:10786 D RGD:5000757|PMID:15843549 20110301 RGD 2887 Il15 interleukin 15 gene DOID:2841 asthma ISO RGD:737535 D RGD:4984421|PMID:16629787 20110301 RGD DNA:SNPs: :multiple (human) 2887 Il15 interleukin 15 gene DOID:2841 asthma ISO RGD:737535 D RGD:5000758|PMID:15131572 20110301 RGD DNA:SNPs: :multiple (human) 2887 Il15 interleukin 15 gene DOID:2841 asthma no_association ISO RGD:737535 D RGD:5000760|PMID:19133918 20110301 RGD DNA:SNPs: :multiple (human) 2887 Il15 interleukin 15 gene DOID:289 endometriosis ISO RGD:737535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2887 Il15 interleukin 15 gene DOID:2957 pulmonary tuberculosis ISO RGD:737535 D RGD:4990461|PMID:11742275 20110301 RGD mRNA, protein:increased expression:lung 2887 Il15 interleukin 15 gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20110302 RGD mRNA:decreased expression:B cell 2887 Il15 interleukin 15 gene DOID:3393 coronary artery disease ISO RGD:737535 D RGD:1626610|PMID:16109314 20070813 RGD associated with Hypertension;protein:increased expression:serum 2887 Il15 interleukin 15 gene DOID:3454 brain infarction ISO RGD:737535 D RGD:1626610|PMID:16109314 20070813 RGD associated with Hypertension;protein:increased expression:serum 2887 Il15 interleukin 15 gene DOID:3770 pulmonary fibrosis ISO RGD:737535 D RGD:5147438|PMID:21309737 20110228 RGD 2887 Il15 interleukin 15 gene DOID:399 tuberculosis ISO RGD:10786 D RGD:4987456|PMID:16367949 20110301 RGD mRNA:altered expression:lung, spleen 2887 Il15 interleukin 15 gene DOID:4483 rhinitis ISO RGD:10786 D RGD:5000756|PMID:16750998 20110301 RGD 2887 Il15 interleukin 15 gene DOID:4989 pancreatitis IDA D RGD:4892671|PMID:20332642 20110301 RGD 2887 Il15 interleukin 15 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737535 D RGD:4892672|PMID:20028198 20110301 RGD protein:decreased expression:plasma 2887 Il15 interleukin 15 gene DOID:630 genetic disease ISO RGD:737535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2887 Il15 interleukin 15 gene DOID:850 lung disease ISO RGD:737535 D RGD:4974390|PMID:17784951 20110301 RGD associated with Scleroderma, Systemic;protein:increased expression:serum 2887 Il15 interleukin 15 gene DOID:874 bacterial pneumonia ISO RGD:10786 D RGD:5000754|PMID:17911627 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9000386 Polyomavirus Infections ISO RGD:737535 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2887 Il15 interleukin 15 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737535 D RGD:4943853|PMID:18394133 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10786 D RGD:4996474|PMID:18390740 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:4994196|PMID:21098221 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:4996471|PMID:20212069 20110301 RGD mRNA, protein:increased expression:lung 2887 Il15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:737535 D RGD:4996472|PMID:19234203 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10786 D RGD:5000755|PMID:17611121 20110301 RGD protein:increased expression:alveolar macrophage, bronchial epithelial cell 2887 Il15 interleukin 15 gene DOID:9002457 Experimental Arthritis ISO RGD:737535 D RGD:5000761|PMID:20188418 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9004283 Transplant Rejection IEP D RGD:10402939|PMID:17532783 20151103 RGD mRNA:increased expression:liver 2887 Il15 interleukin 15 gene DOID:9005372 Inflammation IEP D RGD:1626616|PMID:12572774 20070813 RGD 2887 Il15 interleukin 15 gene DOID:9005883 Pleural Effusion ISO RGD:737535 D RGD:4990458|PMID:15072171 20110301 RGD 2887 Il15 interleukin 15 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737535 D RGD:40902860|PMID:26541527 20201214 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human) 2887 Il15 interleukin 15 gene DOID:9007651 Chronic Bronchitis ISO RGD:737535 D RGD:4990461|PMID:11742275 20110301 RGD mRNA, protein:increased expression:lung 2887 Il15 interleukin 15 gene DOID:9008212 Diabetic Foot ISO RGD:737535 D RGD:2313575|PMID:17014667 20091002 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell 2887 Il15 interleukin 15 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:1626617|PMID:11585642 20070813 RGD protein:increased expression:skeletal muscle 2887 Il15 interleukin 15 gene DOID:934 viral infectious disease ISO RGD:737535 D RGD:4892668|PMID:21235417 20110301 RGD associated with Pulmonary Disease, Chronic Obstructive 2887 Il15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:2313574|PMID:17670937 20091002 RGD 2887 Il15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:2313577|PMID:16098919 20091002 RGD protein:increased expression:serum 2887 Il15 interleukin 15 gene DOID:9970 obesity ISO RGD:737535 D RGD:2313573|PMID:18697873 20091002 RGD mRNA, protein:altered expression:skeletal muscle, plasma 2888 Il17a interleukin 17A gene DOID:0050073 invasive aspergillosis severity ISO RGD:10787 D RGD:8698654|PMID:21807912 20140812 RGD 2888 Il17a interleukin 17A gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:735883 D RGD:8698667|PMID:20493423 20140812 RGD protein:increased expression:epidermis (human) 2888 Il17a interleukin 17A gene DOID:0060180 colitis IEP D RGD:4781448|PMID:20881082 20101117 RGD mRNA:increased expression:colon 2888 Il17a interleukin 17A gene DOID:0060180 colitis ISO RGD:10787 D RGD:4888509|PMID:14962796 20101119 RGD 2888 Il17a interleukin 17A gene DOID:0060180 colitis ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 2888 Il17a interleukin 17A gene DOID:0060189 ileitis IEP D RGD:4837793|PMID:18536735 20101118 RGD mRNA:increased expression:ileum 2888 Il17a interleukin 17A gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 2888 Il17a interleukin 17A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 2888 Il17a interleukin 17A gene DOID:0080162 lupus nephritis treatment ISO RGD:10787 D RGD:9244623|PMID:25129462 20140825 RGD 2888 Il17a interleukin 17A gene DOID:0080600 COVID-19 severity ISO RGD:735883 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2888 Il17a interleukin 17A gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:9068935|PMID:22990529 20140825 RGD protein:increased expression:pancreas, serum (rat) 2888 Il17a interleukin 17A gene DOID:0081267 graft-versus-host disease ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 2888 Il17a interleukin 17A gene DOID:1024 leprosy severity ISO RGD:735883 D RGD:8698644|PMID:22641009 20140812 RGD mRNA:decreased expression:epidermis (human) 2888 Il17a interleukin 17A gene DOID:10247 pleurisy treatment IDA D RGD:7175307|PMID:21898269 20140825 RGD 2888 Il17a interleukin 17A gene DOID:10325 silicosis ISO RGD:10787 D RGD:4888525|PMID:20421647 20101123 RGD mRNA, protein:increased expression:lung 2888 Il17a interleukin 17A gene DOID:10754 otitis media severity ISO RGD:10787 D RGD:8698659|PMID:24664502 20140812 RGD 2888 Il17a interleukin 17A gene DOID:10966 lipoid nephrosis IEP D RGD:9068937|PMID:22772331 20140825 RGD Protein:increased expression:plasma (rat) 2888 Il17a interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:4888528|PMID:20228193 20101123 RGD associated with Bronchial Hyprractivity; mRNA:increased expression:lung 2888 Il17a interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:4889101|PMID:19812198 20101124 RGD 2888 Il17a interleukin 17A gene DOID:11265 trachoma ISO RGD:735883 D RGD:9068420|PMID:21911461 20140818 RGD mRNA:increased expression:conjunctiva (human) 2888 Il17a interleukin 17A gene DOID:11382 corneal neovascularization treatment ISO RGD:10787 D RGD:9068451|PMID:22379030 20140819 RGD associated with Herpes Simplex 2888 Il17a interleukin 17A gene DOID:11396 pulmonary edema ISO RGD:735883 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 2888 Il17a interleukin 17A gene DOID:1205 allergic disease ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2888 Il17a interleukin 17A gene DOID:12306 vitiligo ISO RGD:735883 D RGD:8663475|PMID:22342018 20140703 RGD protein:increased expression:serum: 2888 Il17a interleukin 17A gene DOID:12361 Graves' disease ISO RGD:735883 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 2888 Il17a interleukin 17A gene DOID:12361 Graves' disease susceptibility ISO RGD:735883 D RGD:9068423|PMID:22816799 20140818 RGD DNA:snp:intron:IVS1+18G>A (rs3819025) (human) 2888 Il17a interleukin 17A gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735883 D RGD:4889103|PMID:19738511 20101124 RGD protein:increased expression:plasma 2888 Il17a interleukin 17A gene DOID:1287 cardiovascular system disease ISO RGD:735883 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 2888 Il17a interleukin 17A gene DOID:12894 Sjogren's syndrome ISO RGD:10787 D RGD:8696035|PMID:21182786 20140811 RGD 2888 Il17a interleukin 17A gene DOID:13141 uveitis IMP D RGD:4888523|PMID:19373578 20101122 RGD 2888 Il17a interleukin 17A gene DOID:13141 uveitis ISO RGD:735883 D RGD:9068441|PMID:23101722 20140818 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) 2888 Il17a interleukin 17A gene DOID:13241 Behcet's disease ISO RGD:735883 D RGD:8698672|PMID:21455110 20140812 RGD protein:increased expression:plasma (human) 2888 Il17a interleukin 17A gene DOID:13375 temporal arteritis severity ISO RGD:735883 D RGD:8698666|PMID:22993227 20140812 RGD mRNA, protein:increased expression:temporal artery (human) 2888 Il17a interleukin 17A gene DOID:13375 temporal arteritis susceptibility ISO RGD:735883 D RGD:9068454|PMID:24919468 20140819 RGD DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human) 2888 Il17a interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:4889105|PMID:19342416 20101124 RGD protein:increased expression:serum 2888 Il17a interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:4889130|PMID:21109552 20101129 RGD protein:increased expression:lung 2888 Il17a interleukin 17A gene DOID:1731 histoplasmosis ISO RGD:10787 D RGD:9068939|PMID:19469707 20140825 RGD mRNA, protein:increased expression:lung (mouse) 2888 Il17a interleukin 17A gene DOID:1936 atherosclerosis treatment ISO RGD:10787 D RGD:9170237|PMID:21300351 20140825 RGD 2888 Il17a interleukin 17A gene DOID:2123 tularemia ISO RGD:10787 D RGD:4888521|PMID:20585449 20101122 RGD 2888 Il17a interleukin 17A gene DOID:2316 brain ischemia IEP D RGD:4846398|PMID:16305645 20101118 RGD protein, mRNA:increased expression:brain 2888 Il17a interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 2888 Il17a interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:4846398|PMID:16305645 20101118 RGD protein:increased expression:brain 2888 Il17a interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 2888 Il17a interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:8698672|PMID:21455110 20140812 RGD protein:increased expression:plasma (human) 2888 Il17a interleukin 17A gene DOID:2755 Mycobacterium avium complex disease ISO RGD:735883 D RGD:4888520|PMID:20797909 20101122 RGD 2888 Il17a interleukin 17A gene DOID:2799 bronchiolitis obliterans ISO RGD:10787 D RGD:4143277|PMID:20393404 20101129 RGD mRNA:increased expression:trachea 2888 Il17a interleukin 17A gene DOID:2841 asthma IEP D RGD:4839043|PMID:18060619 20101118 RGD mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum 2888 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:10787 D RGD:4888527|PMID:20351038 20101123 RGD 2888 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:4889114|PMID:15730730 20101124 RGD protein:increased expression:sputum 2888 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:4889152|PMID:18941201 20101130 RGD protein:increased expression:alveolar macrophage 2888 Il17a interleukin 17A gene DOID:2841 asthma susceptibility ISO RGD:735883 D RGD:4889139|PMID:20437253 20101129 RGD DNA:SNP:promoter:rs2275913 (human) 2888 Il17a interleukin 17A gene DOID:2942 bronchiolitis susceptibility ISO RGD:735883 D RGD:4889139|PMID:20437253 20101129 RGD DNA:SNP:promoter:rs2275913 (human) 2888 Il17a interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:9068943|PMID:16200865 20140825 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) 2888 Il17a interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735883 D RGD:4889104|PMID:19604272 20101124 RGD protein:increased expression:respiratory mucosa 2888 Il17a interleukin 17A gene DOID:331 central nervous system disease ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19940258 2888 Il17a interleukin 17A gene DOID:3310 atopic dermatitis ISO RGD:10787 D RGD:9068417|PMID:22848348 20140818 RGD protein:increased expression:epidermis (mouse) 2888 Il17a interleukin 17A gene DOID:3310 atopic dermatitis severity ISO RGD:735883 D RGD:9068436|PMID:18432274 20140818 RGD protein:increased expression:dermis, lymphocyte (human) 2888 Il17a interleukin 17A gene DOID:3310 atopic dermatitis treatment ISO RGD:10787 D RGD:8698670|PMID:24337738 20140812 RGD 2888 Il17a interleukin 17A gene DOID:3388 periodontal disease IEP D RGD:9068940|PMID:21826658 20140825 RGD protein:increased expression:gingiva (rat) 2888 Il17a interleukin 17A gene DOID:3482 plague IEP D RGD:4781452|PMID:20876291 20101117 RGD mRNA,protein:increased expression:lymph node 2888 Il17a interleukin 17A gene DOID:3770 pulmonary fibrosis IEP D RGD:9179762|PMID:24721403 20140825 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) 2888 Il17a interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:10787 D RGD:4889110|PMID:18338242 20101124 RGD 2888 Il17a interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:10787|RGD:735883 D RGD:4888529|PMID:20176803 20101123 RGD 2888 Il17a interleukin 17A gene DOID:417 autoimmune disease ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2888 Il17a interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:10787 D RGD:8696037|PMID:22833167 20101129 RGD 2888 Il17a interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:735883 D RGD:8696038|PMID:23335253 20140811 RGD protein:increased expression:epidermis, endodermis, mast cell (human) 2888 Il17a interleukin 17A gene DOID:4448 macular degeneration ISO RGD:735883 D RGD:9068453|PMID:21762495 20140819 RGD protein:increased expression: serum (human) 2888 Il17a interleukin 17A gene DOID:4448 macular degeneration susceptibility ISO RGD:735883 D RGD:9068445|PMID:25028103 20140819 RGD DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human) 2888 Il17a interleukin 17A gene DOID:4481 allergic rhinitis ISO RGD:735883 D RGD:5147409|PMID:21535180 20140818 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 2888 Il17a interleukin 17A gene DOID:4481 allergic rhinitis susceptibility ISO RGD:735883 D RGD:9068429|PMID:22507625 20140818 RGD DNA:snp:promoter:c.-444A>G (human) 2888 Il17a interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:4889137|PMID:20506642 20101129 RGD protein:increased expression:nasal mucosa 2888 Il17a interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:4889144|PMID:19927541 20101129 RGD 2888 Il17a interleukin 17A gene DOID:4780 anti-basement membrane glomerulonephritis treatment IDA D RGD:7365004|PMID:23826305 20140825 RGD 2888 Il17a interleukin 17A gene DOID:552 pneumonia ISO RGD:10787 D RGD:4888524|PMID:20498020 20101123 RGD 2888 Il17a interleukin 17A gene DOID:552 pneumonia ISO RGD:10787 D RGD:9068417|PMID:22848348 20140818 RGD 2888 Il17a interleukin 17A gene DOID:552 pneumonia ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2888 Il17a interleukin 17A gene DOID:5844 myocardial infarction IEP D RGD:9095344|PMID:23096364 20140825 RGD mRNA, protein:increased expression:heart left ventricle (rat) 2888 Il17a interleukin 17A gene DOID:6000 congestive heart failure IEP D RGD:2325816|PMID:19909738 20101118 RGD protein:increased expression:heart 2888 Il17a interleukin 17A gene DOID:6000 congestive heart failure IMP D RGD:4831836|PMID:19527710 20101118 RGD 2888 Il17a interleukin 17A gene DOID:630 genetic disease ISO RGD:735883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2888 Il17a interleukin 17A gene DOID:6543 acne ISO RGD:735883 D RGD:8698671|PMID:23924903 20140812 RGD protein:increased expression:pilosebaceous unit, dermis (human) 2888 Il17a interleukin 17A gene DOID:6713 cerebrovascular disease ISO RGD:735883 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 2888 Il17a interleukin 17A gene DOID:7147 ankylosing spondylitis treatment ISO RGD:735883 D RGD:9068448|PMID:24035250 20140819 RGD 2888 Il17a interleukin 17A gene DOID:7148 rheumatoid arthritis ISO RGD:735883 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:synovial (human) 2888 Il17a interleukin 17A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:735883 D RGD:9068415|PMID:20926833 20140818 RGD 2888 Il17a interleukin 17A gene DOID:7188 autoimmune thyroiditis ISO RGD:10787 D RGD:4841878|PMID:17046971 20101118 RGD protein:increased expression:thyroid gland 2888 Il17a interleukin 17A gene DOID:820 myocarditis IDA D RGD:4838736|PMID:18441464 20101118 RGD 2888 Il17a interleukin 17A gene DOID:823 periapical periodontitis IEP D RGD:4832829|PMID:19166776 20101118 RGD protein:increased expression:Periapical Tissue 2888 Il17a interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:4888525|PMID:20421647 20101123 RGD associated with Silicosis 2888 Il17a interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:4889106|PMID:19151189 20101124 RGD 2888 Il17a interleukin 17A gene DOID:874 bacterial pneumonia ISO RGD:10787 D RGD:4889153|PMID:18802100 20101130 RGD 2888 Il17a interleukin 17A gene DOID:874 bacterial pneumonia severity ISO RGD:10787 D RGD:38501102|PMID:25398094 20200818 RGD 2888 Il17a interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:8698663|PMID:23359500 20140812 RGD mRNA:protein:increased expression:epidermis (human) 2888 Il17a interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068413|PMID:21172868 20140818 RGD 2888 Il17a interleukin 17A gene DOID:8893 psoriasis ISO RGD:735883 D RGD:8698663|PMID:23359500 20140812 RGD mRNA:protein:increased expression:epidermis (human) 2888 Il17a interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:10787 D RGD:8698656|PMID:24286371 20140812 RGD 2888 Il17a interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:735883 D RGD:9068415|PMID:20926833 20140818 RGD 2888 Il17a interleukin 17A gene DOID:9000380 Spondylarthritis IEP D RGD:9068946|PMID:21905004 20140825 RGD protein:increased expression:serum (rat) 2888 Il17a interleukin 17A gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10787 D RGD:9227415|PMID:23702425 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10787 D RGD:4888526|PMID:20413629 20101123 RGD 2888 Il17a interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735883 D RGD:4889115|PMID:12814161 20101124 RGD protein:increased expression:sputum 2888 Il17a interleukin 17A gene DOID:9000955 Acute Otitis Media disease_progression IEP D RGD:40818299|PMID:27497403 20201118 RGD protein:increased expression:serum (rat) 2888 Il17a interleukin 17A gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735883 D RGD:4889139|PMID:20437253 20101129 RGD associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) 2888 Il17a interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:4889132|PMID:21091665 20101129 RGD associated with rhinitis; protein:increased expression:nasal mucosa 2888 Il17a interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:4889137|PMID:20506642 20101129 RGD protein:increased expression:nose, serum 2888 Il17a interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:4889102|PMID:19783685 20101124 RGD mRNA, protein:increased expression:lung 2888 Il17a interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:4889150|PMID:19265125 20101130 RGD 2888 Il17a interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10787 D RGD:39939037|PMID:28465467 20201022 RGD protein:increased expression:liver, serum (mouse) 2888 Il17a interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 2888 Il17a interleukin 17A gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10787 D RGD:4888531|PMID:19995896 20101123 RGD 2888 Il17a interleukin 17A gene DOID:9002211 Hyperalgesia IDA D RGD:9068942|PMID:23192794 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9002211 Hyperalgesia treatment IMP D RGD:9222699|PMID:23246025 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis IEP D RGD:9130803|PMID:23377547 20140825 RGD protein:increased expression:serum (rat) 2888 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis IMP D RGD:4781444|PMID:20925596 20101117 RGD 2888 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:10787 D RGD:4781444|PMID:20925596 20101117 RGD 2888 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 2888 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:9068936|PMID:21194185 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9002605 Delayed Hypersensitivity IMP D RGD:4888523|PMID:19373578 20101122 RGD 2888 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:4888522|PMID:20003332 20101122 RGD 2888 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4831840|PMID:19233473 20101118 RGD mRNA, protein:increased expression:lymph node 2888 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10787 D RGD:4889113|PMID:16785554 20101124 RGD 2888 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10787 D RGD:9212317|PMID:16200068 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9003157 Respiratory Sounds ISO RGD:735883 D RGD:4889143|PMID:20199725 20101129 RGD protein:increased expression: : 2888 Il17a interleukin 17A gene DOID:9003646 Arterial Thrombosis ISO RGD:10787 D RGD:9068933|PMID:24940514 20140825 RGD mouse protein in a rat model 2888 Il17a interleukin 17A gene DOID:9003657 Perennial Allergic Rhinitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19226302|REF_RGD_ID:4889151 2888 Il17a interleukin 17A gene DOID:9004283 Transplant Rejection IEP D RGD:4781440|PMID:21043049 20140825 RGD protein:increased expression:liver, serum (rat) 2888 Il17a interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:10787 D RGD:9068426|PMID:20651239 20140818 RGD 2888 Il17a interleukin 17A gene DOID:9004283 Transplant Rejection treatment IMP D RGD:9068938|PMID:23429965 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9004484 Sepsis IMP D RGD:4888507|PMID:15776385 20101119 RGD 2888 Il17a interleukin 17A gene DOID:9004610 Acute Lung Injury ISO RGD:735883 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 2888 Il17a interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:735883 D RGD:8698652|PMID:22927448 20140812 RGD protein:increased expression:aqueous humor (human) 2888 Il17a interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis treatment ISO RGD:10787 D RGD:8698652|PMID:22927448 20140812 RGD 2888 Il17a interleukin 17A gene DOID:9005036 Bacteremia ISO RGD:735883 D RGD:5128683|PMID:21062445 20101122 RGD associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum 2888 Il17a interleukin 17A gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10787 D RGD:38501105|PMID:21923716 20200818 RGD mRNA,protein:increased expression:placenta: 2888 Il17a interleukin 17A gene DOID:9005236 Drug Eruptions ISO RGD:735883 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 2888 Il17a interleukin 17A gene DOID:9005372 Inflammation ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 2888 Il17a interleukin 17A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9068940|PMID:21826658 20140825 RGD protein:increased expression:gingiva (rat) 2888 Il17a interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis IEP D RGD:9158567|PMID:21686325 20140825 RGD mRNA:increased expression:lymph node (rat) 2888 Il17a interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis IMP D RGD:9074484|PMID:24117055 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis treatment IDA D RGD:9173789|PMID:23626769 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9005749 Necrosis ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24949944 2888 Il17a interleukin 17A gene DOID:9005941 Rhinosinusitis ISO RGD:735883 D RGD:4889146|PMID:19672092 20101129 RGD associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) 2888 Il17a interleukin 17A gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:10787 D RGD:9068425|PMID:24614654 20140818 RGD 2888 Il17a interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:4831923|PMID:19207263 20101118 RGD mRNA, protein:increased expression:sciatic nerve, inguinal lymph node 2888 Il17a interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:10787 D RGD:4888513|PMID:10785455 20101119 RGD 2888 Il17a interleukin 17A gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735883 D RGD:8696039|PMID:23613503 20140811 RGD protein:increased expression:uncinate process, nasal mucosa (human) 2888 Il17a interleukin 17A gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:735883 D RGD:8698667|PMID:20493423 20140812 RGD protein:increased expression:epidermis (human) 2888 Il17a interleukin 17A gene DOID:9006844 Streptococcal Infections ISO RGD:10787 D RGD:8698662|PMID:22384827 20140812 RGD protein:increased expression:serum (mouse) 2888 Il17a interleukin 17A gene DOID:9006854 MPTP Poisoning ISO RGD:735883 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31351185 2888 Il17a interleukin 17A gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735883 D RGD:4889847|PMID:17703412 20110121 RGD DNA:SNP: :rs7747909(human) 2888 Il17a interleukin 17A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19633216|PMID:24949944 2888 Il17a interleukin 17A gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:9068944|PMID:22030025 20140825 RGD 2888 Il17a interleukin 17A gene DOID:9008 psoriatic arthritis severity ISO RGD:10787 D RGD:8698658|PMID:24567524 20140812 RGD 2888 Il17a interleukin 17A gene DOID:9008 psoriatic arthritis treatment ISO RGD:735883 D RGD:9068444|PMID:23361084 20140819 RGD 2888 Il17a interleukin 17A gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes treatment ISO RGD:735883 D RGD:9068438|PMID:21637346 20140818 RGD 2888 Il17a interleukin 17A gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735883 D RGD:9068428|PMID:24141678 20140818 RGD associated with Nasal Polyps;protein:increased expression:nasal polyps (human) 2888 Il17a interleukin 17A gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10787 D RGD:9068440|PMID:24674692 20140818 RGD associated with Arthritis, Experimental 2888 Il17a interleukin 17A gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:735883 D RGD:4889139|PMID:20437253 20101129 RGD Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) 2888 Il17a interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:kidney (human) 2888 Il17a interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:8698667|PMID:20493423 20140812 RGD protein:increased expression:epidermis (human) 2888 Il17a interleukin 17A gene DOID:9111 cutaneous leishmaniasis ISO RGD:735883 D RGD:38455981|PMID:29205403 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: 2888 Il17a interleukin 17A gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 2889 Il18 interleukin 18 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:730894 D RGD:8655917|PMID:20472718 20140522 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:0050847 sleep apnea severity ISO RGD:730894 D RGD:4889903|PMID:19187612 20101210 RGD 2889 Il18 interleukin 18 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730894 D RGD:8655925|PMID:16428475 20140523 RGD protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:0060319 cardiac arrest IEP D RGD:4889454|PMID:18679114 20101202 RGD 2889 Il18 interleukin 18 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:730894 D RGD:14696655|PMID:28697498 20190709 RGD 2889 Il18 interleukin 18 gene DOID:0080162 lupus nephritis ISO RGD:730895 D RGD:6893449|PMID:20980973 20120828 RGD 2889 Il18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730894 D RGD:14696664|PMID:20422882 20190710 RGD protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:730894 D RGD:14696674|PMID:28660148 20190711 RGD 2889 Il18 interleukin 18 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:8655964|PMID:24006666 20140523 RGD 2889 Il18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 2889 Il18 interleukin 18 gene DOID:0080600 COVID-19 severity ISO RGD:730894 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 2889 Il18 interleukin 18 gene DOID:0080745 polymyositis ISO RGD:730894 D RGD:4889547|PMID:20601655 20101206 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:0080784 urinary tract infection IEP D RGD:2311084|PMID:19171043 20101203 RGD protein:increased expression:urine 2889 Il18 interleukin 18 gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:730894 D RGD:8655878|PMID:12689659 20140521 RGD 2889 Il18 interleukin 18 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:730894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 2889 Il18 interleukin 18 gene DOID:10223 dermatomyositis ISO RGD:730894 D RGD:4889547|PMID:20601655 20101206 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:10457 Legionnaires' disease ISO RGD:730895 D RGD:4889865|PMID:11083766 20101209 RGD 2889 Il18 interleukin 18 gene DOID:1059 intellectual disability ISO RGD:730894 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2889 Il18 interleukin 18 gene DOID:10955 strongyloidiasis treatment ISO RGD:730895 D RGD:8655932|PMID:16129701 20140523 RGD 2889 Il18 interleukin 18 gene DOID:11162 respiratory failure ISO RGD:730894 D RGD:4889556|PMID:19357034 20101206 RGD associated with pancreatitis; protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:11335 sarcoidosis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16100009 2889 Il18 interleukin 18 gene DOID:11335 sarcoidosis disease_progression ISO RGD:730894 D RGD:4889815|PMID:17015003 20101208 RGD protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:11396 pulmonary edema ISO RGD:730895 D RGD:4889555|PMID:19394645 20101206 RGD 2889 Il18 interleukin 18 gene DOID:114 heart disease IMP D RGD:4889158|PMID:20644901 20101130 RGD 2889 Il18 interleukin 18 gene DOID:1205 allergic disease ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2889 Il18 interleukin 18 gene DOID:12351 alcoholic hepatitis severity ISO RGD:730894 D RGD:14696666|PMID:15566508 20190710 RGD associated alcoholic liver cirrhosis; protein:increased expression:plasma: 2889 Il18 interleukin 18 gene DOID:12361 Graves' disease ISO RGD:730894 D RGD:8655878|PMID:12689659 20140521 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:12361 Graves' disease no_association ISO RGD:730894 D RGD:8655916|PMID:16571086 20140522 RGD DNA:SNPs:promoter, exon:multiple 2889 Il18 interleukin 18 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730894 D RGD:39938858|PMID:28992214 20201014 RGD 2889 Il18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730894 D RGD:4889584|PMID:18043444 20101207 RGD DNA:polymorphism:intron:rs360721 (human) 2889 Il18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730895 D RGD:4889550|PMID:20130064 20101206 RGD 2889 Il18 interleukin 18 gene DOID:12894 Sjogren's syndrome ISO RGD:730894 D RGD:8655918|PMID:23906036 20140522 RGD protein:increased expression:saliva 2889 Il18 interleukin 18 gene DOID:13141 uveitis treatment IEP D RGD:8655982|PMID:22562515 20140527 RGD 2889 Il18 interleukin 18 gene DOID:13241 Behcet's disease ISO RGD:730894 D RGD:4889844|PMID:14727452 20101209 RGD 2889 Il18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:8655910|PMID:16273766 20140522 RGD DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:8655926|PMID:21532063 20140523 RGD DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730894 D RGD:8655897|PMID:17055358 20140522 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730895 D RGD:8655927|PMID:15234532 20140523 RGD 2889 Il18 interleukin 18 gene DOID:13375 temporal arteritis ISO RGD:730894 D RGD:8655865|PMID:20331879 20140521 RGD DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) 2889 Il18 interleukin 18 gene DOID:13375 temporal arteritis no_association ISO RGD:730894 D RGD:8655865|PMID:20331879 20140521 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:13378 Kawasaki disease ISO RGD:730894 D RGD:8655898|PMID:19288449 20140522 RGD DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human) 2889 Il18 interleukin 18 gene DOID:13378 Kawasaki disease disease_progression ISO RGD:730894 D RGD:8655924|PMID:15345916 20140523 RGD 2889 Il18 interleukin 18 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:730894 D RGD:8655874|PMID:18484687 20140521 RGD DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:4889823|PMID:16734560 20101208 RGD protein:increased expression:bronchoalveolar lavage fluid 2889 Il18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:4889863|PMID:11174201 20101209 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:13608 biliary atresia ISO RGD:730894 D RGD:14695529|PMID:10726686 20190705 RGD protein:increased expression:serum: 2889 Il18 interleukin 18 gene DOID:13608 biliary atresia susceptibility ISO RGD:730894 D RGD:14695528|PMID:30059753 20190705 RGD DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) 2889 Il18 interleukin 18 gene DOID:14566 disease of cellular proliferation ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21273262 2889 Il18 interleukin 18 gene DOID:1485 cystic fibrosis ISO RGD:730894 D RGD:4889551|PMID:20026745 20101206 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 2889 Il18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:8655890|PMID:24490166 20140522 RGD 2889 Il18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:8655894|PMID:21692767 20140522 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:8655866|PMID:12209760 20140521 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:8655899|PMID:19152241 20140522 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:1612 breast cancer no_association ISO RGD:730894 D RGD:8655899|PMID:19152241 20140522 RGD DNA:SNP:promoter:-607C>A (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:1679 cystitis IEP D RGD:2317284|PMID:18848347 20101201 RGD protein:increased expression:urine, bladder 2889 Il18 interleukin 18 gene DOID:182 calcinosis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2889 Il18 interleukin 18 gene DOID:1824 status epilepticus IDA D RGD:4889491|PMID:20674684 20101203 RGD 2889 Il18 interleukin 18 gene DOID:1883 hepatitis C ISO RGD:730894 D RGD:14696653|PMID:27927859 20190709 RGD protein:increased expression:serum: 2889 Il18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:14695527|PMID:18781864 20190705 RGD DNA:SNPs:promoter:-607C>A, -137G>C(human) 2889 Il18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:14696657|PMID:21984735 20190709 RGD 2889 Il18 interleukin 18 gene DOID:1883 hepatitis C susceptibility ISO RGD:730894 D RGD:14696654|PMID:26486291 20190709 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) 2889 Il18 interleukin 18 gene DOID:1883 hepatitis C treatment ISO RGD:730894 D RGD:14695530|PMID:19455410 20190705 RGD DNA:SNPs:promoter:-137G>C,-607C>A(human) 2889 Il18 interleukin 18 gene DOID:1936 atherosclerosis ISO RGD:730895 D RGD:14695532|PMID:16732281 20190705 RGD 2889 Il18 interleukin 18 gene DOID:1936 atherosclerosis treatment IEP D RGD:8655997|PMID:23685195 20140527 RGD 2889 Il18 interleukin 18 gene DOID:2043 hepatitis B disease_progression ISO RGD:730894 D RGD:14696658|PMID:19466545 20190709 RGD DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human) 2889 Il18 interleukin 18 gene DOID:2043 hepatitis B susceptibility ISO RGD:730894 D RGD:14695540|PMID:27429592 20190708 RGD associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human) 2889 Il18 interleukin 18 gene DOID:2048 autoimmune hepatitis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2889 Il18 interleukin 18 gene DOID:2316 brain ischemia IEP D RGD:4889510|PMID:11807395 20101203 RGD mRNA:increased expression:brain 2889 Il18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 2889 Il18 interleukin 18 gene DOID:2723 dermatitis ISO RGD:730895 D RGD:8655896|PMID:12925208 20140522 RGD 2889 Il18 interleukin 18 gene DOID:2773 contact dermatitis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 2889 Il18 interleukin 18 gene DOID:2841 asthma ISO RGD:730895 D RGD:4889908|PMID:18826499 20101210 RGD 2889 Il18 interleukin 18 gene DOID:2841 asthma ISO RGD:730895|RGD:730894 D RGD:4889898|PMID:20497957 20101209 RGD 2889 Il18 interleukin 18 gene DOID:2841 asthma disease_progression ISO RGD:730894 D RGD:4889863|PMID:11174201 20101209 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:4889585|PMID:17767553 20101207 RGD DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:4889900|PMID:19745201 20101209 RGD DNA:SNP:promoter: c.-380C>G (rs5744247)(human) 2889 Il18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:4889910|PMID:18200581 20101210 RGD DNA:polymorphism: :c. -105A>C (human) 2889 Il18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:4889923|PMID:16433859 20101210 RGD DNA:SNP:promoter:c.and -137G>C (rs187238)(human) 2889 Il18 interleukin 18 gene DOID:2921 glomerulonephritis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18462998 2889 Il18 interleukin 18 gene DOID:2945 severe acute respiratory syndrome ISO RGD:730894 D RGD:32716399|PMID:15602737 20200629 RGD protein:increased expression:serum (human) 2889 Il18 interleukin 18 gene DOID:2957 pulmonary tuberculosis ISO RGD:730894 D RGD:4889836|PMID:15955140 20101209 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:2986 IgA glomerulonephritis ISO RGD:730894 D RGD:6893446|PMID:22518072 20120828 RGD 2889 Il18 interleukin 18 gene DOID:2987 familial Mediterranean fever ISO RGD:730894 D RGD:8655877|PMID:16273770 20140521 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:3008 invasive ductal carcinoma ISO RGD:730894 D RGD:8655888|PMID:21263407 20140522 RGD protein:increased expression:breast 2889 Il18 interleukin 18 gene DOID:3021 acute kidney failure ISO RGD:730895 D RGD:6893450|PMID:11342578 20120829 RGD 2889 Il18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730894 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27585668 2889 Il18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730895 D RGD:8655902|PMID:9781803 20140522 RGD mRNA:increased expression:skin 2889 Il18 interleukin 18 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:730895 D RGD:8655940|PMID:12874202 20140523 RGD 2889 Il18 interleukin 18 gene DOID:3070 high grade glioma treatment ISO RGD:730895 D RGD:8657054|PMID:18725309 20140528 RGD 2889 Il18 interleukin 18 gene DOID:3082 interstitial lung disease IEP D RGD:4889883|PMID:20543002 20101209 RGD associated with Pseudomonas Infection; protein:increased expression:lung 2889 Il18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730894 D RGD:4889547|PMID:20601655 20101206 RGD associated with dermatomyositis; protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730895 D RGD:5144220|PMID:21257923 20110802 RGD 2889 Il18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:4889551|PMID:20026745 20101206 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:4889575|PMID:19208460 20101207 RGD protein:increased expression:sputum, macrophage 2889 Il18 interleukin 18 gene DOID:326 ischemia IEP D RGD:6893448|PMID:21289055 20120828 RGD 2889 Il18 interleukin 18 gene DOID:3310 atopic dermatitis ISO RGD:730895 D RGD:8655908|PMID:11490156 20140522 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:3310 atopic dermatitis ISS RGD:730895 D RGD:13592920 20180518 MouseDO OMIM:603165 2889 Il18 interleukin 18 gene DOID:3310 atopic dermatitis no_association ISO RGD:730894 D RGD:8655914|PMID:22840759 20140522 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:8655872|PMID:15317323 20140521 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:8655876|PMID:17517100 20140521 RGD DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) 2889 Il18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:8655914|PMID:22840759 20140522 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) 2889 Il18 interleukin 18 gene DOID:3526 cerebral infarction treatment IEP D RGD:8655991|PMID:20584315 20140527 RGD 2889 Il18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730894 D RGD:4889841|PMID:15308504 20101209 RGD idiopathic pulmonary fibrosis; protein:increased expression:lung, serum 2889 Il18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730895 D RGD:4889581|PMID:18598692 20101207 RGD protein:increased expression:lung 2889 Il18 interleukin 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730894 D RGD:4889836|PMID:15955140 20101209 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:4079 heart valve disease ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2889 Il18 interleukin 18 gene DOID:4481 allergic rhinitis no_association ISO RGD:730894 D RGD:8655914|PMID:22840759 20140522 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) 2889 Il18 interleukin 18 gene DOID:4481 allergic rhinitis severity ISO RGD:730894 D RGD:8655914|PMID:22840759 20140522 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730894 D RGD:4889916|PMID:17323858 20101210 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730895 D RGD:4889917|PMID:17305282 20101210 RGD protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid 2889 Il18 interleukin 18 gene DOID:4483 rhinitis disease_progression ISO RGD:730894 D RGD:4889927|PMID:15934281 20101210 RGD rhinitis allergic, seasonal; protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:4724 brain edema treatment IDA D RGD:6771363|PMID:22338606 20140523 RGD associated with Status Epilepticus 2889 Il18 interleukin 18 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:730895 D RGD:6893447|PMID:22046355 20120828 RGD 2889 Il18 interleukin 18 gene DOID:4989 pancreatitis IEP D RGD:4889404|PMID:19238530 20101201 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:4989 pancreatitis treatment IEP D RGD:8655988|PMID:23983797 20140527 RGD 2889 Il18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:14695542|PMID:12462332 20190708 RGD protein:increased expression:plasma: 2889 Il18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:14696656|PMID:19740312 20190709 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: 2889 Il18 interleukin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:730894 D RGD:14696656|PMID:19740312 20190709 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: 2889 Il18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730894 D RGD:14696653|PMID:27927859 20190709 RGD associated with hepatitis C; protein:increased expression:serum: 2889 Il18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730894 D RGD:14696653|PMID:27927859 20190709 RGD protein:increased expression:serum: 2889 Il18 interleukin 18 gene DOID:552 pneumonia IEP D RGD:729357|PMID:11739527 19990101 RGD mRNA, protein:increased expression:lung,bronchoalveolar fluid 2889 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2889 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:4889836|PMID:15955140 20101209 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:4889590|PMID:17400729 20101207 RGD 2889 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:4889825|PMID:16052682 20101208 RGD associated with reperfusion injury 2889 Il18 interleukin 18 gene DOID:5614 eye disease susceptibility ISO RGD:730894 D RGD:8655910|PMID:16273766 20140522 RGD associated with Behcet Syndrome;DNA:SNP:promoter:-137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:5844 myocardial infarction ameliorates IEP D RGD:242905187|PMID:33389498 20230327 RGD 2889 Il18 interleukin 18 gene DOID:633 myositis treatment ISO RGD:730894 D RGD:8655903|PMID:16968394 20140522 RGD 2889 Il18 interleukin 18 gene DOID:6432 pulmonary hypertension ISO RGD:730895 D RGD:4889590|PMID:17400729 20101207 RGD 2889 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:11538094|PMID:26893476 20190708 RGD 2889 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:14696663|PMID:27470888 20190710 RGD associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human) 2889 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730894 D RGD:14695526|PMID:29341496 20190705 RGD associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human) 2889 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730894 D RGD:14695540|PMID:27429592 20190708 RGD DNA:SNP:promoter:-137G>C(rs187238)(human) 2889 Il18 interleukin 18 gene DOID:7148 rheumatoid arthritis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 2889 Il18 interleukin 18 gene DOID:769 neuroblastoma susceptibility ISO RGD:730895 D RGD:8655920|PMID:16428511 20140522 RGD 2889 Il18 interleukin 18 gene DOID:83 cataract IEP D RGD:8655879|PMID:18006521 20140521 RGD 2889 Il18 interleukin 18 gene DOID:83 cataract IEP D RGD:8655881|PMID:21591858 20140521 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens 2889 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:4889548|PMID:20522205 20101206 RGD acute lung injury; associated with cardiac surgical procedures; DNA:polymorphism: : c. -607 C>G (human) 2889 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:4889574|PMID:19265174 20101207 RGD lung injury; protein:increased expression:lung 2889 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:4889574|PMID:19265174 20101207 RGD lung injury 2889 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:4889576|PMID:19197224 20101207 RGD acute lung injury; associated with endotoxemia; 2889 Il18 interleukin 18 gene DOID:8566 herpes simplex treatment ISO RGD:730895 D RGD:8655923|PMID:9971824 20140523 RGD 2889 Il18 interleukin 18 gene DOID:865 vasculitis IDA D RGD:4889401|PMID:19717152 20101201 RGD 2889 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:4889473|PMID:12529262 20101202 RGD protein:increased expression:liver 2889 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5490305|PMID:21240009 20120321 RGD protein:increased expression:ileum 2889 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:729222|PMID:12032269 19990101 RGD protein:increased expression:ileum 2889 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730895 D RGD:4889475|PMID:17947451 20101202 RGD 2889 Il18 interleukin 18 gene DOID:874 bacterial pneumonia ISO RGD:730895 D RGD:4889913|PMID:17664259 20101210 RGD 2889 Il18 interleukin 18 gene DOID:8893 psoriasis ISO RGD:730894 D RGD:8655919|PMID:17611614 20140522 RGD protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:8893 psoriasis treatment ISO RGD:730894 D RGD:8655900|PMID:22291810 20140522 RGD 2889 Il18 interleukin 18 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:730894 D RGD:11073600|PMID:24801815 20160428 RGD protein:increased expression:plasma: 2889 Il18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730894 D RGD:8655907|PMID:16260350 20140522 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730895 D RGD:4889417|PMID:19011009 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2315889|PMID:18367607 20101202 RGD 2889 Il18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:8655974|PMID:23140983 20140527 RGD 2889 Il18 interleukin 18 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730894 D RGD:8655867|PMID:12902898 20140521 RGD associated with Breast Neoplasms;protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9000197 Edema IMP D RGD:4889403|PMID:19497959 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9000386 Polyomavirus Infections ISO RGD:730894 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2889 Il18 interleukin 18 gene DOID:9000528 Coronary Disease ISO RGD:730894 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 2889 Il18 interleukin 18 gene DOID:9000641 Pain IDA D RGD:2315887|PMID:19853379 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730895 D RGD:4889856|PMID:11766995 20101209 RGD 2889 Il18 interleukin 18 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 2889 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12748951 2889 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:4889862|PMID:11215816 20101209 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:8655866|PMID:12209760 20140521 RGD associated with breast cancer;protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:8655899|PMID:19152241 20140522 RGD associated with breast cancer;DNA:SNP:promoter:-137G>C (rs187238) (human) 2889 Il18 interleukin 18 gene DOID:9000998 Brain Injuries IMP D RGD:2315917|PMID:17188500 20100115 RGD mRNA, protein:increased expression:brain 2889 Il18 interleukin 18 gene DOID:9000998 Brain Injuries severity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17188500|REF_RGD_ID:2315917 2889 Il18 interleukin 18 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:8655963|PMID:23000553 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9001488 Human Influenza ISO RGD:730895 D RGD:4889964|PMID:15606801 20101210 RGD 2889 Il18 interleukin 18 gene DOID:9001547 Tibial Fractures IEP D RGD:2315887|PMID:19853379 20101201 RGD protein:increased expression:skin 2889 Il18 interleukin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2889 Il18 interleukin 18 gene DOID:9001708 Hemorrhagic Shock ISO RGD:730895 D RGD:14695541|PMID:23589298 20190708 RGD protein:increased expression:plasma 2889 Il18 interleukin 18 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:730895 D RGD:4889960|PMID:15770015 20101210 RGD 2889 Il18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:14696667|PMID:25919765 20190710 RGD 2889 Il18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730895 D RGD:14696668|PMID:14999688 20190710 RGD 2889 Il18 interleukin 18 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:8655929|PMID:19036970 20140523 RGD associated with Peripheral Nerve Injuries 2889 Il18 interleukin 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17688413 2889 Il18 interleukin 18 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:730895 D RGD:14696662|PMID:19467215 20190710 RGD 2889 Il18 interleukin 18 gene DOID:9002457 Experimental Arthritis IMP D RGD:4889503|PMID:15147345 20101203 RGD 2889 Il18 interleukin 18 gene DOID:9002457 Experimental Arthritis disease_progression IEP D RGD:4889415|PMID:19096963 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9002498 Wallerian Degeneration IEP D RGD:4889526|PMID:11494369 20101203 RGD mRNA, protein:increased expression:macrophage, microglia: 2889 Il18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4889542|PMID:9846824 20101206 RGD mRNA:increased expression:spinal cord 2889 Il18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:4889543|PMID:9834127 20101206 RGD 2889 Il18 interleukin 18 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:730894 D RGD:8655917|PMID:20472718 20140522 RGD associated with Arthritis, Juvenile;protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 2889 Il18 interleukin 18 gene DOID:9002916 Hyperphagia ISO RGD:730895 D RGD:14695532|PMID:16732281 20190705 RGD 2889 Il18 interleukin 18 gene DOID:9003036 Oral Lichen Planus ISO RGD:730894 D RGD:8655868|PMID:17854431 20140521 RGD DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:9003036 Oral Lichen Planus no_association ISO RGD:730894 D RGD:8655868|PMID:17854431 20140521 RGD DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human) 2889 Il18 interleukin 18 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:4889924|PMID:16406079 20101210 RGD DNA:SNP:promoter:c. -607A>C (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:730895 D RGD:8655941|PMID:16767432 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9003871 Venous Thrombosis IEP D RGD:8655957|PMID:22318348 20140523 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9003936 Cardiomegaly ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18660453 2889 Il18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:4889555|PMID:19394645 20101206 RGD 2889 Il18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:4889825|PMID:16052682 20101208 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730894 D RGD:14696656|PMID:19740312 20190709 RGD 2889 Il18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730894 D RGD:14696651|PMID:25198668 20190709 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) 2889 Il18 interleukin 18 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730894 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2889 Il18 interleukin 18 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:730895 D RGD:8655870|PMID:12230493 20140521 RGD 2889 Il18 interleukin 18 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:730895 D RGD:8655901|PMID:17411412 20140522 RGD 2889 Il18 interleukin 18 gene DOID:9004283 Transplant Rejection IMP D RGD:8655943|PMID:21962809 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:8655952|PMID:24223666 20140523 RGD associated with Myocardial Reperfusion Injury 2889 Il18 interleukin 18 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:730894 D RGD:4889546|PMID:21045270 20101206 RGD 2889 Il18 interleukin 18 gene DOID:9004994 Embryo Loss IEP D RGD:8655947|PMID:21920610 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9005236 Drug Eruptions ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 2889 Il18 interleukin 18 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:730895 D RGD:8655921|PMID:21536791 20140522 RGD 2889 Il18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:4889159|PMID:19955748 20101130 RGD protein:increased expression:carotid artery 2889 Il18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries IMP D RGD:4889500|PMID:16864728 20101203 RGD 2889 Il18 interleukin 18 gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:8655971|PMID:22089199 20140527 RGD 2889 Il18 interleukin 18 gene DOID:9006646 Metabolic Syndrome IEP D RGD:4889401|PMID:19717152 20101201 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 2889 Il18 interleukin 18 gene DOID:9006646 Metabolic Syndrome treatment IEP D RGD:8655985|PMID:24456735 20140527 RGD 2889 Il18 interleukin 18 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:730895 D RGD:8655931|PMID:12023376 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9007096 Stroke IEP D RGD:4891154|PMID:21171972 20110110 RGD mRNA:increased expression:brain 2889 Il18 interleukin 18 gene DOID:9007356 Eczema ISO RGD:730894 D RGD:8655937|PMID:15806006 20140523 RGD DNA:SNPs:promoter, exon:multiple 2889 Il18 interleukin 18 gene DOID:9007364 Mouth Neoplasms ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24349532 2889 Il18 interleukin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19164858 2889 Il18 interleukin 18 gene DOID:9007480 Hyperoxia IDA D RGD:4889402|PMID:19672068 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9007692 Insulin Resistance ISO RGD:730895 D RGD:14695532|PMID:16732281 20190705 RGD 2889 Il18 interleukin 18 gene DOID:9007692 Insulin Resistance treatment ISO RGD:730894 D RGD:8655938|PMID:23257837 20140523 RGD associated with Graves Disease 2889 Il18 interleukin 18 gene DOID:9007730 Burns ISO RGD:730895 D RGD:4889576|PMID:19197224 20101207 RGD protein:decreased expression:liver 2889 Il18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730894 D RGD:8655891|PMID:17562991 20140522 RGD mRNA, protein:increased expression:retina 2889 Il18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730895 D RGD:8655930|PMID:17234681 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:4889400|PMID:19805173 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730895 D RGD:4889578|PMID:19164288 20101207 RGD 2889 Il18 interleukin 18 gene DOID:9007874 Liver Failure treatment IEP D RGD:8655993|PMID:23155311 20140527 RGD 2889 Il18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis no_association ISO RGD:730894 D RGD:8655871|PMID:12532106 20140521 RGD DNA:SNPs:promoters:multiple 2889 Il18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:8655871|PMID:12532106 20140521 RGD DNA:SNPs:promoters, exon:multiple 2889 Il18 interleukin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:730894 D RGD:14696663|PMID:27470888 20190710 RGD DNA:SNP:promoter:-607C>A(human) 2889 Il18 interleukin 18 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:730894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 2889 Il18 interleukin 18 gene DOID:9008691 Liver Injury IEP D RGD:14696652|PMID:24412291 20190709 RGD 2889 Il18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:730895 D RGD:8655972|PMID:21106643 20140527 RGD 2889 Il18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:730894 D RGD:8655934|PMID:15353983 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome susceptibility ISO RGD:730894 D RGD:8655915|PMID:20331838 20140522 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) 2889 Il18 interleukin 18 gene DOID:9065 leishmaniasis ISO RGD:730894 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16879623 2889 Il18 interleukin 18 gene DOID:9065 leishmaniasis treatment ISO RGD:730895 D RGD:8655909|PMID:10768930 20140522 RGD 2889 Il18 interleukin 18 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:730895 D RGD:8655922|PMID:16879623 20140523 RGD 2889 Il18 interleukin 18 gene DOID:9452 fatty liver disease IDA D RGD:4889416|PMID:19084941 20101201 RGD 2889 Il18 interleukin 18 gene DOID:9675 pulmonary emphysema IEP D RGD:8655969|PMID:23392573 20140527 RGD mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage 2889 Il18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:730895 D RGD:4889590|PMID:17400729 20101207 RGD 2889 Il18 interleukin 18 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730894 D RGD:8655935|PMID:18359638 20140523 RGD protein:increased expression:serum 2889 Il18 interleukin 18 gene DOID:986 alopecia areata susceptibility ISO RGD:730894 D RGD:8655875|PMID:24446726 20140521 RGD DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) 2889 Il18 interleukin 18 gene DOID:9970 obesity ISO RGD:730895 D RGD:14695532|PMID:16732281 20190705 RGD 2889 Il18 interleukin 18 gene DOID:9970 obesity treatment IEP D RGD:7175343|PMID:20490358 20140527 RGD 2890 Il1a interleukin 1 alpha gene DOID:0050152 aspiration pneumonia IEP D RGD:4142854|PMID:18042282 20100914 RGD protein:increased expression:Bronchoalveolar Lavage Fluid 2890 Il1a interleukin 1 alpha gene DOID:0050697 chorioamnionitis ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21493953 2890 Il1a interleukin 1 alpha gene DOID:0050700 cardiomyopathy ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:0060496 respiratory allergy ISO RGD:10789 D RGD:4143222|PMID:12663678 20100920 RGD 2890 Il1a interleukin 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 2890 Il1a interleukin 1 alpha gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2890 Il1a interleukin 1 alpha gene DOID:0080745 polymyositis ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:0080784 urinary tract infection IEP D RGD:2311084|PMID:19171043 20090623 RGD protein:increased expression:urine 2890 Il1a interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:10789 D RGD:6907113|PMID:21690238 20121029 RGD 2890 Il1a interleukin 1 alpha gene DOID:0081120 Graves ophthalmopathy ISO RGD:735707 D RGD:7794734|PMID:8444271 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:0081267 graft-versus-host disease ISO RGD:735707 D RGD:11049180|PMID:23645090 20160405 RGD DNA:SNP:promoter:-889T>C (rs1800587) (human) 2890 Il1a interleukin 1 alpha gene DOID:1002 endometritis IEP D RGD:11059518|PMID:25330821 20160414 RGD protein:increased expression:endometrium 2890 Il1a interleukin 1 alpha gene DOID:10126 keratoconus ISO RGD:735707 D RGD:7794709|PMID:19043479 20140108 RGD DNA:SNP:intron:rs2071376 (human) 2890 Il1a interleukin 1 alpha gene DOID:10223 dermatomyositis ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 2890 Il1a interleukin 1 alpha gene DOID:10327 anthracosis ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 2890 Il1a interleukin 1 alpha gene DOID:10459 common cold ISO RGD:735707 D RGD:4143183|PMID:10358201 20100916 RGD protein:increased expression:nasal mucus 2890 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:735707 D RGD:10046059|PMID:9775393 20150706 RGD protein:increased expression:microglial cell, cortical layer: 2890 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:735707 D RGD:10045947|PMID:11402127 20150624 RGD DNA:SNP:5'UTR:rs1800587(human) 2890 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:735707 D RGD:10045945|PMID:19158434 20150624 RGD DNA:SNP:5'UTR:rs1800587(human) 2890 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735707 D RGD:1358667|PMID:10716257 19990101 RGD 2890 Il1a interleukin 1 alpha gene DOID:10754 otitis media IEP D RGD:4891398|PMID:18524391 20110112 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:middle ear 2890 Il1a interleukin 1 alpha gene DOID:10914 amnestic disorder ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8003924 2890 Il1a interleukin 1 alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:735707 D RGD:11059515|PMID:7503375 20160414 RGD 2890 Il1a interleukin 1 alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:735707 D RGD:7794712|PMID:12768791 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:11030 corneal edema ISO RGD:735707 D RGD:7794733|PMID:7657553 20140108 RGD mRNA:increased expression:cornea 2890 Il1a interleukin 1 alpha gene DOID:11476 osteoporosis ISO RGD:735707 D RGD:6907107|PMID:10555884 20121029 RGD associated with Arthritis, Rheumatoid 2890 Il1a interleukin 1 alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:10789 D RGD:10045948|PMID:8790403 20150624 RGD mRNA:increased expression:brain: 2890 Il1a interleukin 1 alpha gene DOID:12241 beta thalassemia ISO RGD:735707 D RGD:11051969|PMID:21576933 20160412 RGD mRNA:decreased expression:blood, mononuclear cell 2890 Il1a interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 2890 Il1a interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:7794736|PMID:16911396 20140108 RGD protein:increased expression:skin 2890 Il1a interleukin 1 alpha gene DOID:12337 varicocele IEP D RGD:2311094|PMID:16616101 20090623 RGD protein:increased expression:testis 2890 Il1a interleukin 1 alpha gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 2890 Il1a interleukin 1 alpha gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:13141 uveitis IEP D RGD:7401166|PMID:8125721 20131106 RGD 2890 Il1a interleukin 1 alpha gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10789 D RGD:7794730|PMID:8699818 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:13250 diarrhea ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9278552 2890 Il1a interleukin 1 alpha gene DOID:13580 cholestasis IEP D RGD:2311076|PMID:19535096 20090623 RGD protein:increased expression:liver 2890 Il1a interleukin 1 alpha gene DOID:14499 Fabry disease ISO RGD:735707 D RGD:6907117|PMID:17353161 20121029 RGD DNA:SNP:promoter:-889C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:1485 cystic fibrosis severity ISO RGD:735707 D RGD:4142849|PMID:8333775 20100914 RGD protein:increased expression:serum 2890 Il1a interleukin 1 alpha gene DOID:1790 malignant mesothelioma ISO RGD:735707 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2890 Il1a interleukin 1 alpha gene DOID:1793 pancreatic cancer ISO RGD:735707 D RGD:2311069|PMID:7787209 20090623 RGD 2890 Il1a interleukin 1 alpha gene DOID:2316 brain ischemia ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 2890 Il1a interleukin 1 alpha gene DOID:2841 asthma ISO RGD:735707 D RGD:4142802|PMID:18763028 20100910 RGD DNA:polymorphisms: : 2890 Il1a interleukin 1 alpha gene DOID:2921 glomerulonephritis ISO RGD:10789 D RGD:6907108|PMID:10469263 20121029 RGD associated with Malaria 2890 Il1a interleukin 1 alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2890 Il1a interleukin 1 alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:10789 D RGD:4142835|PMID:9176116 20100914 RGD 2890 Il1a interleukin 1 alpha gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:735707 D RGD:6907116|PMID:21049406 20121029 RGD DNA:SNP:promoter:-889C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:3021 acute kidney failure ISO RGD:10789 D RGD:6907069|PMID:21716595 20121025 RGD 2890 Il1a interleukin 1 alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23178550 2890 Il1a interleukin 1 alpha gene DOID:3082 interstitial lung disease IMP D RGD:7794767|PMID:1826836 20140109 RGD associated with Immune Complex Diseases 2890 Il1a interleukin 1 alpha gene DOID:3082 interstitial lung disease susceptibility ISO RGD:735707 D RGD:4142806|PMID:12528118 20100913 RGD associated with sclerosis: DNA:SNPs:5' UTR, exon, intron: 2890 Il1a interleukin 1 alpha gene DOID:310 MERRF Syndrome ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:3687 MELAS syndrome ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:37 skin disease ISO RGD:10789 D RGD:7794729|PMID:8524866 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:37 skin disease ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 2890 Il1a interleukin 1 alpha gene DOID:3770 pulmonary fibrosis IEP D RGD:4142838|PMID:9100454 20100914 RGD mRNA, protein:increased expression:alveolar macrophage 2890 Il1a interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:735707 D RGD:4142803|PMID:17309781 20100910 RGD idiopathic pulmonary fibrosis;DNA:polymorphism:promoter: 2890 Il1a interleukin 1 alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:735707 D RGD:4142793|PMID:19505916 20100909 RGD DNA:SNPs: : 2890 Il1a interleukin 1 alpha gene DOID:4109 tick infestation ISO RGD:10789 D RGD:7794724|PMID:7835923 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:4195 hyperglycemia ISO RGD:735707 D RGD:2311062|PMID:18211631 20090623 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma 2890 Il1a interleukin 1 alpha gene DOID:4371 Schnitzler syndrome ISO RGD:735707 D RGD:7794711|PMID:1831824 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 2890 Il1a interleukin 1 alpha gene DOID:552 pneumonia IEP D RGD:7794765|PMID:8806881 20140109 RGD mRNA:increased expression:lung 2890 Il1a interleukin 1 alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735707 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 2890 Il1a interleukin 1 alpha gene DOID:630 genetic disease ISO RGD:735707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2890 Il1a interleukin 1 alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735707 D RGD:7794716|PMID:8162643 20140108 RGD DNA:SNP:promoter:-889C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:699 mitochondrial myopathy ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:705 Leber hereditary optic neuropathy ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735707 D RGD:4142818|PMID:11192540 20100913 RGD associated with lung disease, interstitial 2890 Il1a interleukin 1 alpha gene DOID:7148 rheumatoid arthritis severity ISO RGD:735707 D RGD:7794716|PMID:8162643 20140108 RGD protein:increased expression:plasma, synovial fluid 2890 Il1a interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:6907105|PMID:12837270 20121029 RGD DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human) 2890 Il1a interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:6907106|PMID:12631337 20121029 RGD DNA:SNPs, deletion, haplotypes:3' utr:multiple (human) 2890 Il1a interleukin 1 alpha gene DOID:783 end stage renal disease no_association ISO RGD:735707 D RGD:6907070|PMID:20551628 20121025 RGD DNA:SNP 2890 Il1a interleukin 1 alpha gene DOID:824 periodontitis ISO RGD:735707 D RGD:6906881|PMID:22795294 20121025 RGD mRNA:increased expression:gingiva 2890 Il1a interleukin 1 alpha gene DOID:8398 osteoarthritis ISO RGD:735707 D RGD:10047053|PMID:9497936 20150707 RGD protein:increased expression:chonodrocyte: 2890 Il1a interleukin 1 alpha gene DOID:841 extrinsic allergic alveolitis ISO RGD:10789 D RGD:4142832|PMID:10882225 20100914 RGD protein:increased expression:Bronchoalveolar Lavage Fluid 2890 Il1a interleukin 1 alpha gene DOID:850 lung disease ISO RGD:10789 D RGD:4142805|PMID:12745880 20100910 RGD lung injury;mRNA:increased expression:lung 2890 Il1a interleukin 1 alpha gene DOID:850 lung disease ISO RGD:10789 D RGD:4142809|PMID:12377989 20100913 RGD lung injury;mRNA:increased expression:lung 2890 Il1a interleukin 1 alpha gene DOID:850 lung disease ISO RGD:735707 D RGD:4142811|PMID:11917281 20100913 RGD radiation pneumonitis;protein:increased expression:plasma 2890 Il1a interleukin 1 alpha gene DOID:869 cholesteatoma ISO RGD:735707 D RGD:7401205|PMID:1384343 20131107 RGD 2890 Il1a interleukin 1 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735707 D RGD:11051966|PMID:21591983 20160412 RGD DNA:SNP:promoter:-899C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:735707 D RGD:2307061|PMID:18978347 20090623 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor 2890 Il1a interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:10789 D RGD:11051971|PMID:1868253 20160412 RGD 2890 Il1a interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:735707 D RGD:11059514|PMID:2258610 20160414 RGD 2890 Il1a interleukin 1 alpha gene DOID:9000111 Radiation Injuries IEP D RGD:7794763|PMID:7938676 20140109 RGD 2890 Il1a interleukin 1 alpha gene DOID:9000540 HIV Wasting Syndrome ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2890 Il1a interleukin 1 alpha gene DOID:9000918 Disease Progression ISO RGD:735707 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 2890 Il1a interleukin 1 alpha gene DOID:9000972 Fever ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 2890 Il1a interleukin 1 alpha gene DOID:9000998 Brain Injuries IEP D RGD:2311098|PMID:16024175 20090623 RGD mRNA, protein:increased expression:cerebral cortex 2890 Il1a interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2890 Il1a interleukin 1 alpha gene DOID:9001109 Anorexia IEP D RGD:7794755|PMID:8748250 20140109 RGD associated with Sarcoma, Experimental;protein:increased expression:cerebrospinal fluid 2890 Il1a interleukin 1 alpha gene DOID:9001472 Nasal Polyps ISO RGD:735707 D RGD:4142855|PMID:17638785 20100914 RGD DNA:SNPs:exon: 2890 Il1a interleukin 1 alpha gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:735707 D RGD:4142804|PMID:12752325 20100910 RGD associated with asthma;DNA:polymorphism:exon: 2890 Il1a interleukin 1 alpha gene DOID:9001488 Human Influenza ISO RGD:10789 D RGD:4142860|PMID:11535264 20100914 RGD protein:increased expression:lung 2890 Il1a interleukin 1 alpha gene DOID:9001600 Wounds and Injuries IEP D RGD:2311088|PMID:18638276 20090623 RGD 2890 Il1a interleukin 1 alpha gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2311100|PMID:15580020 20090624 RGD mRNA:increased expression:lung 2890 Il1a interleukin 1 alpha gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7401191|PMID:7890488 20131107 RGD 2890 Il1a interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:2314952|PMID:19595018 20100909 RGD mRNA:increased expression:lung 2890 Il1a interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:6907377|PMID:19283466 20121101 RGD protein:increased expression:serum 2890 Il1a interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:11059517|PMID:9840148 20160414 RGD 2890 Il1a interleukin 1 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12727271 2890 Il1a interleukin 1 alpha gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735707 D RGD:11051968|PMID:19074885 20160412 RGD 2890 Il1a interleukin 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:735707 D RGD:2311066|PMID:11005132 20090623 RGD mRNA:increased expression:placenta 2890 Il1a interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis IEP D RGD:10045944|PMID:24534736 20150624 RGD protein:increased expression:cartilage cell: 2890 Il1a interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:10789 D RGD:10046057|PMID:9497937 20150706 RGD 2890 Il1a interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:735707 D RGD:10045946|PMID:9034998 20150624 RGD 2890 Il1a interleukin 1 alpha gene DOID:9002457 Experimental Arthritis IDA D RGD:6907373|PMID:20379758 20121101 RGD 2890 Il1a interleukin 1 alpha gene DOID:9002457 Experimental Arthritis IEP D RGD:8662976|PMID:19169271 20140701 RGD protein:increased expression:serum: 2890 Il1a interleukin 1 alpha gene DOID:9002805 Enterocolitis IEP D RGD:2311103|PMID:8144001 20090624 RGD 2890 Il1a interleukin 1 alpha gene DOID:9003036 Oral Lichen Planus treatment ISO RGD:735707 D RGD:7794728|PMID:16476030 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:735707 D RGD:4142867|PMID:18484169 20160412 RGD DNA:polymorphism, haplotype:promoter:-889C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735707 D RGD:4142859|PMID:14533660 20100914 RGD DNA:polymorphism:exon:c.4845G>T (human) 2890 Il1a interleukin 1 alpha gene DOID:9003730 Chemical Burns ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2890 Il1a interleukin 1 alpha gene DOID:9003871 Venous Thrombosis IEP D RGD:2311092|PMID:17651586 20090623 RGD 2890 Il1a interleukin 1 alpha gene DOID:9004009 Reperfusion Injury ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 2890 Il1a interleukin 1 alpha gene DOID:9004118 Experimental Melanoma treatment ISO RGD:10789 D RGD:7794735|PMID:8061895 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:9004441 Experimental Leukemia treatment ISO RGD:10789 D RGD:11051972|PMID:2117483 20160412 RGD 2890 Il1a interleukin 1 alpha gene DOID:9004464 Skin Neoplasms ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8435107 2890 Il1a interleukin 1 alpha gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:735707 D RGD:11051963|PMID:7666093 20160412 RGD associated with Carcinoma, Non-Small-Cell Lung 2890 Il1a interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:11051963|PMID:7666093 20160412 RGD associated with Carcinoma, Non-Small-Cell Lung 2890 Il1a interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:11051964|PMID:8151314 20160412 RGD associated with Ovarian Neoplasms 2890 Il1a interleukin 1 alpha gene DOID:9004649 Heat Stroke IEP D RGD:6907071|PMID:19295493 20121025 RGD protein:increased expression:plasma 2890 Il1a interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2890 Il1a interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21467745|PMID:22163019 2890 Il1a interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:7794766|PMID:2636224 20140109 RGD 2890 Il1a interleukin 1 alpha gene DOID:9005372 Inflammation treatment ISO RGD:10789 D RGD:7794725|PMID:8761432 20140108 RGD 2890 Il1a interleukin 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142788|PMID:20555424 20100908 RGD protein:increased expression:heart 2890 Il1a interleukin 1 alpha gene DOID:9005930 Endotoxemia IEP D RGD:7794786|PMID:22426124 20140110 RGD protein:increased expression:plasma 2890 Il1a interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:10789 D RGD:6907109|PMID:9636192 20121029 RGD 2890 Il1a interleukin 1 alpha gene DOID:9006024 Hypotension ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 2890 Il1a interleukin 1 alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2890 Il1a interleukin 1 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8218930 2890 Il1a interleukin 1 alpha gene DOID:9007621 Craniocerebral Trauma ISO RGD:735707 D RGD:10045949|PMID:7830934 20150624 RGD protein:increased expression:microglial cell 2890 Il1a interleukin 1 alpha gene DOID:9007730 Burns ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10431976 2890 Il1a interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7794764|PMID:7622355 20140109 RGD 2890 Il1a interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735707 D RGD:7794741|PMID:8576926 20140109 RGD 2890 Il1a interleukin 1 alpha gene DOID:9007896 Sclerosis susceptibility ISO RGD:735707 D RGD:4142806|PMID:12528118 20100913 RGD DNA:SNPs:5' UTR, exon, intron: 2890 Il1a interleukin 1 alpha gene DOID:9007964 Arsenic Poisoning ISO RGD:735707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2890 Il1a interleukin 1 alpha gene DOID:9008217 Hemorrhage IEP D RGD:11059516|PMID:9326742 20160414 RGD 2890 Il1a interleukin 1 alpha gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735707 D RGD:5131286|PMID:20811626 20100909 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human) 2890 Il1a interleukin 1 alpha gene DOID:9008763 Femoral Fractures IEP D RGD:5131471|PMID:21442011 20121029 RGD protein:increased expression:lung, serum 2890 Il1a interleukin 1 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:735707 D RGD:11051965|PMID:2460157 20160412 RGD 2890 Il1a interleukin 1 alpha gene DOID:9383 iridocyclitis ISO RGD:735707 D RGD:7794716|PMID:8162643 20140108 RGD associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:10789 D RGD:11059513|PMID:1777241 20160414 RGD 2890 Il1a interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:11049156|PMID:25469832 20160405 RGD DNA:SNP:promoter:-511C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:11051973|PMID:17926179 20160412 RGD DNA:SNP:promoter:-889C>T (human) 2890 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:10789 D RGD:2311067|PMID:8612552 20090623 RGD mRNA:increased expression:pancreatic islet, leukocyte 2890 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:2311064|PMID:17953531 20090623 RGD 2890 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:2311065|PMID:12941768 20090623 RGD protein:increased expression:small intestine mucosa 2890 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:2311075|PMID:2405400 20090623 RGD 2891 Il1b interleukin 1 beta gene DOID:0050127 sinusitis ISO RGD:730981 D RGD:4143214|PMID:16358839 20100920 RGD associated with Hypersensitivity 2891 Il1b interleukin 1 beta gene DOID:0050700 cardiomyopathy ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:0050848 obstructive sleep apnea IEP D RGD:4142845|PMID:19342292 20100914 RGD protein:increased expression:plasma (rat) 2891 Il1b interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:730981 D RGD:4142829|PMID:20040038 20100913 RGD protein:decreased expression:serum 2891 Il1b interleukin 1 beta gene DOID:0050851 glomerulosclerosis IDA D RGD:7175503|PMID:19948880 20121205 RGD associated with Hypertension 2891 Il1b interleukin 1 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression IEP D RGD:152998999|PMID:33411841 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) 2891 Il1b interleukin 1 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:730981 D RGD:10450881|PMID:10697556 20160122 RGD mRNA:increased expression:bone marrow 2891 Il1b interleukin 1 beta gene DOID:0060180 colitis IDA D RGD:7204699|PMID:22969190 20121227 RGD 2891 Il1b interleukin 1 beta gene DOID:0060180 colitis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 2891 Il1b interleukin 1 beta gene DOID:0060496 respiratory allergy ISO RGD:10790 D RGD:4143222|PMID:12663678 20100920 RGD 2891 Il1b interleukin 1 beta gene DOID:0080000 muscular disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9184656 2891 Il1b interleukin 1 beta gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10790 D RGD:7401196|PMID:10624423 20131107 RGD mRNA:increased expression:cornea 2891 Il1b interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:7175315|PMID:21641991 20121203 RGD 2891 Il1b interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:7175344|PMID:20410215 20121204 RGD mRNA:increased expression:renal glomerulus (mouse) 2891 Il1b interleukin 1 beta gene DOID:0080178 mucositis IDA D RGD:7204497|PMID:22984629 20121221 RGD 2891 Il1b interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20844880 2891 Il1b interleukin 1 beta gene DOID:0080178 mucositis treatment ISO RGD:10790 D RGD:14975283|PMID:30987265 20191004 RGD 2891 Il1b interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730981 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 2891 Il1b interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730981 D RGD:14975293|PMID:27730688 20191004 RGD DNA:SNPs:CDS:rs1143634 (human) 2891 Il1b interleukin 1 beta gene DOID:0080208 non-alcoholic fatty liver disease no_association ISO RGD:730981 D RGD:14975293|PMID:27730688 20191004 RGD DNA:SNPs:CDS:rs16944 (human) 2891 Il1b interleukin 1 beta gene DOID:0080519 PAPA syndrome ISO RGD:730981 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 2891 Il1b interleukin 1 beta gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10790 D RGD:127285675|PMID:28100771 20210628 RGD 2891 Il1b interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32171193 2891 Il1b interleukin 1 beta gene DOID:0080600 COVID-19 severity ISO RGD:730981 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2891 Il1b interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10790 D RGD:30309198|PMID:30626685 20200618 RGD 2891 Il1b interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2891 Il1b interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:10790 D RGD:30309958|PMID:30634407 20200623 RGD 2891 Il1b interleukin 1 beta gene DOID:0080744 antisynthetase syndrome ISO RGD:730981 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Antisynthetase syndrome 2891 Il1b interleukin 1 beta gene DOID:0080745 polymyositis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:0080784 urinary tract infection IEP D RGD:2311084|PMID:19171043 20090623 RGD protein:increased expression:urine 2891 Il1b interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:10790 D RGD:7175340|PMID:20886104 20121204 RGD 2891 Il1b interleukin 1 beta gene DOID:0080855 Parkinsonism IMP D RGD:1626658|PMID:17520785 20070815 RGD protein:increased expression:hypothalamus 2891 Il1b interleukin 1 beta gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:7204517|PMID:22964727 20121221 RGD mRNA:increased expression:peritoneal macrophages (rat) 2891 Il1b interleukin 1 beta gene DOID:0081292 traumatic brain injury ISO RGD:730981 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 2891 Il1b interleukin 1 beta gene DOID:10126 keratoconus ISO RGD:730981 D RGD:7401165|PMID:23592922 20131106 RGD DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) 2891 Il1b interleukin 1 beta gene DOID:10140 dry eye syndrome ISO RGD:730981 D RGD:7401190|PMID:22128229 20131107 RGD DNA:polymorphism:exon:rs1143634 (human) 2891 Il1b interleukin 1 beta gene DOID:10140 dry eye syndrome no_association ISO RGD:730981 D RGD:7401190|PMID:22128229 20131107 RGD DNA:SNPs:promoter:rs16944, rs1143627 (human) 2891 Il1b interleukin 1 beta gene DOID:10223 dermatomyositis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 2891 Il1b interleukin 1 beta gene DOID:10241 thalassemia ISO RGD:730981 D RGD:10450569|PMID:11732868 20160118 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:10247 pleurisy IDA D RGD:4142808|PMID:20141620 20100913 RGD 2891 Il1b interleukin 1 beta gene DOID:10247 pleurisy IEP D RGD:7175307|PMID:21898269 20121130 RGD protein:increased expression:pleural cavity, exudate (rat) 2891 Il1b interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:10790 D RGD:4142826|PMID:20175894 20100913 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 2891 Il1b interleukin 1 beta gene DOID:10320 asbestosis ISO RGD:730981 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 2891 Il1b interleukin 1 beta gene DOID:10325 silicosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23640035 2891 Il1b interleukin 1 beta gene DOID:10327 anthracosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 2891 Il1b interleukin 1 beta gene DOID:10459 common cold ISO RGD:730981 D RGD:7401200|PMID:7734976 20131107 RGD protein:increased expression:nasal mucus 2891 Il1b interleukin 1 beta gene DOID:10533 viral pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2891 Il1b interleukin 1 beta gene DOID:10534 stomach cancer ISO RGD:730981 D RGD:126908003|PMID:31396300 20210524 RGD associated with mental depression; human cells in mouse model; protein:increased expression:blood serum, stomach (human) 2891 Il1b interleukin 1 beta gene DOID:10534 stomach cancer ISO RGD:730981 D RGD:7240710 20220209 OMIM 2891 Il1b interleukin 1 beta gene DOID:10534 stomach cancer susceptibility ISO RGD:730981 D RGD:7401222|PMID:21653279 20131108 RGD DNA:polymorphism:promoter:-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:106 pleural tuberculosis ISO RGD:730981 D RGD:4143226|PMID:10377182 20100920 RGD DNA:polymorphism: :3953T>C (human) 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease IDA D RGD:7204700|PMID:22963993 20121227 RGD 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:11522340|PMID:26937653 20181001 RGD DNA:SNP:promoter:-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18675847 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:13792818|PMID:24022074 20181001 RGD DNA:SNP:promoter:-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:13792820|PMID:18830724 20181001 RGD DNA:SNP: :rs1143634 (human) 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease no_association ISO RGD:730981 D RGD:13792820|PMID:18830724 20181001 RGD DNA:SNP: :rs1143634 (human) 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease no_association ISO RGD:730981 D RGD:13793381|PMID:20413850 20181003 RGD DNA:SNP: :rs1143634 (human) 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease onset ISO RGD:730981 D RGD:1626633|PMID:16600299 20070814 RGD protein:increased expression:plasma 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13792819|PMID:23378761 20181001 RGD 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10790 D RGD:13792816|PMID:29447949 20181001 RGD 2891 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:730981 D RGD:13792817|PMID:24874542 20181001 RGD 2891 Il1b interleukin 1 beta gene DOID:1074 kidney failure IDA D RGD:7175345|PMID:20722564 20121204 RGD 2891 Il1b interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:10790 D RGD:7175305|PMID:21907489 20121130 RGD mRNA, protein:increased expression:kidney (mouse) 2891 Il1b interleukin 1 beta gene DOID:10754 otitis media IEP D RGD:7401215|PMID:22173336 20131108 RGD 2891 Il1b interleukin 1 beta gene DOID:10762 portal hypertension IEP D RGD:1626634|PMID:15951934 20070814 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:10763 hypertension IDA D RGD:7175338|PMID:21173343 20121204 RGD 2891 Il1b interleukin 1 beta gene DOID:10763 hypertension IEP D RGD:1626635|PMID:15894892 20070814 RGD mRNA, protein:increased expression:aorta, plasma 2891 Il1b interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 2891 Il1b interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:1626638|PMID:15990729 20070814 RGD associated with Obesity;protein:increased expression:plasma 2891 Il1b interleukin 1 beta gene DOID:10808 gastric ulcer ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11376495 2891 Il1b interleukin 1 beta gene DOID:10825 essential hypertension ISO RGD:730981 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 2891 Il1b interleukin 1 beta gene DOID:10976 membranous glomerulonephritis IDA D RGD:7175342|PMID:20588061 20121204 RGD 2891 Il1b interleukin 1 beta gene DOID:10983 Alport syndrome ISO RGD:10790 D RGD:7175090|PMID:22937108 20121127 RGD 2891 Il1b interleukin 1 beta gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730981 D RGD:7175327|PMID:21308147 20121203 RGD mRNA:increased expression:urinary bladder tumor (human) 2891 Il1b interleukin 1 beta gene DOID:11111 hydronephrosis IEP D RGD:7175264|PMID:22150692 20121129 RGD protein:increased expression:renal inner medulla, urine (rat) 2891 Il1b interleukin 1 beta gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10790 D RGD:7401198|PMID:9326725 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome ISO RGD:730981 D RGD:4142869|PMID:18065658 20100914 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:730981 D RGD:4143190|PMID:8810593 20100916 RGD protein:increased expression:bronchioalveolar lavage fluid (human) 2891 Il1b interleukin 1 beta gene DOID:11396 pulmonary edema ISO RGD:10790 D RGD:4142817|PMID:19875734 20100913 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:11446 sciatic neuropathy treatment IEP D RGD:7364836|PMID:22173123 20131108 RGD 2891 Il1b interleukin 1 beta gene DOID:11476 osteoporosis IDA D RGD:7204491|PMID:22997530 20121220 RGD 2891 Il1b interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16813970 2891 Il1b interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:4143172|PMID:15539764 20100915 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:11832 visual epilepsy IMP D RGD:2315919|PMID:16886979 20100115 RGD 2891 Il1b interleukin 1 beta gene DOID:1184 nephrotic syndrome IEP D RGD:7175324|PMID:21359962 20100914 RGD 2891 Il1b interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:730981 D RGD:7175339|PMID:21103916 20121204 RGD protein:increased expression:serum (human) 2891 Il1b interleukin 1 beta gene DOID:1184 nephrotic syndrome severity ISO RGD:730981 D RGD:7175337|PMID:14760799 20121204 RGD associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:1205 allergic disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2891 Il1b interleukin 1 beta gene DOID:12098 trigeminal neuralgia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2891 Il1b interleukin 1 beta gene DOID:1227 neutropenia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 2891 Il1b interleukin 1 beta gene DOID:12337 varicocele IEP D RGD:2311094|PMID:16616101 20090623 RGD protein:increased expression:testis 2891 Il1b interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:7401177|PMID:16025481 20131106 RGD DNA:SNP:promoter:-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:7401207|PMID:2674184 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:12385 shigellosis treatment ISO RGD:10790 D RGD:39938959|PMID:30615126 20201022 RGD 2891 Il1b interleukin 1 beta gene DOID:12554 hemolytic-uremic syndrome ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 2891 Il1b interleukin 1 beta gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730981 D RGD:39938858|PMID:28992214 20201014 RGD 2891 Il1b interleukin 1 beta gene DOID:12934 Kearns-Sayre syndrome ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:12987 agranulocytosis treatment ISO RGD:730981 D RGD:10450883|PMID:1331350 20160122 RGD 2891 Il1b interleukin 1 beta gene DOID:13025 retinopathy of prematurity IDA D RGD:7204128|PMID:23113620 20121214 RGD 2891 Il1b interleukin 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:10790 D RGD:7175321|PMID:21412216 20121203 RGD 2891 Il1b interleukin 1 beta gene DOID:13139 crescentic glomerulonephritis IDA D RGD:7175502|PMID:19959716 20121205 RGD 2891 Il1b interleukin 1 beta gene DOID:13141 uveitis IEP D RGD:7401166|PMID:8125721 20131106 RGD 2891 Il1b interleukin 1 beta gene DOID:13141 uveitis ISO RGD:730981 D RGD:7401178|PMID:1318867 20131106 RGD 2891 Il1b interleukin 1 beta gene DOID:13189 gout ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 2891 Il1b interleukin 1 beta gene DOID:13241 Behcet's disease ISO RGD:730981 D RGD:7401213|PMID:14600787 20131107 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:10790 D RGD:6482661|PMID:22361326 20120425 RGD 2891 Il1b interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:730981 D RGD:7401221|PMID:8777922 20131108 RGD 2891 Il1b interleukin 1 beta gene DOID:13619 extrahepatic cholestasis ISO RGD:730981 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 2891 Il1b interleukin 1 beta gene DOID:1387 hypolipoproteinemia ISO RGD:730981 D RGD:1625405|PMID:17322100 20070813 RGD mRNA:increased expression:macrophage 2891 Il1b interleukin 1 beta gene DOID:1389 polyneuropathy treatment IEP D RGD:13792836|PMID:29307658 20181002 RGD 2891 Il1b interleukin 1 beta gene DOID:14115 toxic shock syndrome severity ISO RGD:10790 D RGD:40890272|PMID:28659355 20201208 RGD protein:increased expression:lung (mouse) 2891 Il1b interleukin 1 beta gene DOID:14330 Parkinson's disease IDA D RGD:7175549|PMID:23159314 20121210 RGD 2891 Il1b interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:730981 D RGD:1358742|PMID:12070246 19990101 RGD 2891 Il1b interleukin 1 beta gene DOID:14566 disease of cellular proliferation ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 2891 Il1b interleukin 1 beta gene DOID:1485 cystic fibrosis ISO RGD:730981 D RGD:4143181|PMID:10515411 20100915 RGD protein:increased expression:sputum 2891 Il1b interleukin 1 beta gene DOID:1485 cystic fibrosis severity ISO RGD:730981 D RGD:4142844|PMID:19431193 20100914 RGD DNA:SNPs: :rs1143634, rs1143639 (human) 2891 Il1b interleukin 1 beta gene DOID:1555 urticaria ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 2891 Il1b interleukin 1 beta gene DOID:1588 thrombocytopenia treatment ISO RGD:730981 D RGD:10450883|PMID:1331350 20160122 RGD 2891 Il1b interleukin 1 beta gene DOID:1596 depressive disorder IEP D RGD:1626681|PMID:15000880 20070817 RGD protein:increased expression:frontal cortex, hippocampus, hypothalamus (rat) 2891 Il1b interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:10790 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased expression:serum, hippocampus (mouse) 2891 Il1b interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:730981 D RGD:126908003|PMID:31396300 20210524 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) 2891 Il1b interleukin 1 beta gene DOID:1612 breast cancer susceptibility ISO RGD:730981 D RGD:7401222|PMID:21653279 20131108 RGD DNA:polymorphism:promoter:-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:1679 cystitis IDA D RGD:7175333|PMID:23000860 20121204 RGD 2891 Il1b interleukin 1 beta gene DOID:1679 cystitis IEP D RGD:6907118|PMID:11948286 20121029 RGD mRNA, protein:increased expression:urinary bladder 2891 Il1b interleukin 1 beta gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) 2891 Il1b interleukin 1 beta gene DOID:1793 pancreatic cancer ISO RGD:730981 D RGD:2311069|PMID:7787209 20090623 RGD protein:increased expression:serum (human) 2891 Il1b interleukin 1 beta gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730981 D RGD:2317215|PMID:19251436 20100319 RGD DNA:polymorphisms:promoter:-511C>T, -31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:182 calcinosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2891 Il1b interleukin 1 beta gene DOID:1824 status epilepticus IDA D RGD:7204701|PMID:22960129 20121227 RGD 2891 Il1b interleukin 1 beta gene DOID:1824 status epilepticus IEP D RGD:1626682|PMID:14678765 20070817 RGD mRNA:increased expression:hippocampus (rat) 2891 Il1b interleukin 1 beta gene DOID:1826 epilepsy IEP D RGD:13524859|PMID:28303499 20180501 RGD protein:increased expression:brain,plasma 2891 Il1b interleukin 1 beta gene DOID:1883 hepatitis C ISO RGD:730981 D RGD:7175316|PMID:21623661 20121203 RGD associated with Glomerulonephritis; protein:increased expression:serum (human) 2891 Il1b interleukin 1 beta gene DOID:1936 atherosclerosis ISO RGD:10790 D RGD:7175328|PMID:21245127 20121203 RGD associated with Renal Insufficiency, Chronic 2891 Il1b interleukin 1 beta gene DOID:1936 atherosclerosis ameliorates ISO RGD:10790 D RGD:242905195|PMID:35854140 20230328 RGD 2891 Il1b interleukin 1 beta gene DOID:216 dental caries ISO RGD:730981 D RGD:14975276|PMID:30803280 20191003 RGD DNA:SNP: :rs1143627C>T (human) 2891 Il1b interleukin 1 beta gene DOID:2228 thrombocytosis ISO RGD:730981 D RGD:10450885|PMID:2265245 20160122 RGD 2891 Il1b interleukin 1 beta gene DOID:224 transient cerebral ischemia IDA D RGD:7175551|PMID:23147509 20121210 RGD 2891 Il1b interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:10790 D RGD:7175554|PMID:22284622 20121211 RGD 2891 Il1b interleukin 1 beta gene DOID:2297 leptospirosis ISO RGD:10790 D RGD:7175257|PMID:22323544 20121128 RGD mRNA, protein:increased expression:kidney (mouse) 2891 Il1b interleukin 1 beta gene DOID:2316 brain ischemia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9236716|PMID:15737438|PMID:15756928|PMID:17394460 2891 Il1b interleukin 1 beta gene DOID:2349 arteriosclerosis IEP D RGD:1626629|PMID:17132885 20070813 RGD associated with Chlamydia Infections 2891 Il1b interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:730981 D RGD:1626627|PMID:17189873 20070813 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte 2891 Il1b interleukin 1 beta gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730981 D RGD:1626624|PMID:17213232 20070813 RGD DNA:SNP:promoter 2891 Il1b interleukin 1 beta gene DOID:2355 anemia ISO RGD:730981 D RGD:10450886|PMID:3264697 20160122 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:2377 multiple sclerosis ISO RGD:730981 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15210533|PMID:25458313 2891 Il1b interleukin 1 beta gene DOID:2377 multiple sclerosis severity ISO RGD:730981 D RGD:1358741|PMID:10025794 19990101 RGD 2891 Il1b interleukin 1 beta gene DOID:2527 nephrosis IDA D RGD:7175170|PMID:22582804 20121128 RGD 2891 Il1b interleukin 1 beta gene DOID:2841 asthma ISO RGD:10790 D RGD:4142836|PMID:19684087 20100914 RGD 2891 Il1b interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 2891 Il1b interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:4142830|PMID:19842845 20100913 RGD protein:decreased expression:neutrophil 2891 Il1b interleukin 1 beta gene DOID:2841 asthma susceptibility ISO RGD:730981 D RGD:4142864|PMID:18926055 20100914 RGD DNA:polymorphism: :-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:289 endometriosis ISO RGD:730981 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 2891 Il1b interleukin 1 beta gene DOID:2920 membranoproliferative glomerulonephritis IDA D RGD:7175308|PMID:21871881 20121130 RGD 2891 Il1b interleukin 1 beta gene DOID:2921 glomerulonephritis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9403216|PMID:10910440 2891 Il1b interleukin 1 beta gene DOID:2942 bronchiolitis ISO RGD:730981 D RGD:4143192|PMID:8608647 20100916 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2891 Il1b interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10790 D RGD:30309207|PMID:32365944 20200618 RGD mRNA, protein:increased expression:lung, bronchoalveolar lavage (mouse) 2891 Il1b interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:4143179|PMID:10631206 20100915 RGD protein:increased expression:bronchioalveolar lavage fluid (human) 2891 Il1b interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:4143180|PMID:10543265 20100915 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730981 D RGD:5147843|PMID:16634865 20110825 RGD DNA:polymorphism: :3953T>C (human) 2891 Il1b interleukin 1 beta gene DOID:2986 IgA glomerulonephritis ISO RGD:730981 D RGD:6907082|PMID:19280228 20121029 RGD DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) 2891 Il1b interleukin 1 beta gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:730981 D RGD:6907116|PMID:21049406 20121029 RGD DNA:SNP 2891 Il1b interleukin 1 beta gene DOID:2987 familial Mediterranean fever ISO RGD:730981 D RGD:6482659|PMID:22384525 20120425 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:299 adenocarcinoma ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 2891 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure IDA D RGD:7175094|PMID:22750969 20121127 RGD 2891 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure IEP D RGD:7175102|PMID:22659586 20121127 RGD protein:increased expression:kidney (rat) 2891 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:7175258|PMID:22286667 20121128 RGD 2891 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:7175314|PMID:21677145 20121203 RGD mRNA:increased expression:kidney, liver, spleen (mouse) 2891 Il1b interleukin 1 beta gene DOID:3068 glioblastoma ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 2891 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:4142868|PMID:18364273 20100914 RGD DNA:polymorphism: :-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:4142873|PMID:17380888 20100914 RGD DNA:polymorphisms: :-31T>C, 3953T>C (human) 2891 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730981 D RGD:4142866|PMID:18579366 20100914 RGD DNA:polymorphisms: :-31T>C, -511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730981 D RGD:4143169|PMID:15766560 20100915 RGD DNA:polymorphisms: :-31T>C, 3954T>C (human) 2891 Il1b interleukin 1 beta gene DOID:310 MERRF Syndrome ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:3229 gastric dilatation ISO RGD:10790 D RGD:14975138|PMID:30249047 20190930 RGD 2891 Il1b interleukin 1 beta gene DOID:3310 atopic dermatitis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 2891 Il1b interleukin 1 beta gene DOID:3393 coronary artery disease ISO RGD:730981 D RGD:7175093|PMID:22780915 20121127 RGD mRNA:increased expression:peripheral blood (human) 2891 Il1b interleukin 1 beta gene DOID:3454 brain infarction IEP D RGD:1626644|PMID:17678971 20070814 RGD protein:increased expression:cerebral cortex (rat) 2891 Il1b interleukin 1 beta gene DOID:3482 plague ISO RGD:10790 D RGD:4142820|PMID:20565713 20100913 RGD 2891 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction IEP D RGD:7204480|PMID:23028794 20121219 RGD protein:increased expression:cerebral cortex (rat) 2891 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 2891 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ameliorates IEP D RGD:242905190|PMID:35322553 20230327 RGD 2891 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10450594|PMID:24916922 20160119 RGD 2891 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13792833|PMID:29498696 20181002 RGD 2891 Il1b interleukin 1 beta gene DOID:3526 cerebral infarction treatment ISO RGD:10790 D RGD:155260331|PMID:29111308 20220930 RGD 2891 Il1b interleukin 1 beta gene DOID:3612 retinitis ISO RGD:10790 D RGD:7401167|PMID:9008627 20131106 RGD 2891 Il1b interleukin 1 beta gene DOID:3687 MELAS syndrome ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:37 skin disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 2891 Il1b interleukin 1 beta gene DOID:3717 gastric adenocarcinoma ISO RGD:730981 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased expression:blood serum (human) 2891 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis IDA D RGD:7193137|PMID:23132788 20121214 RGD 2891 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis IEP D RGD:4142813|PMID:19945540 20100913 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:10790 D RGD:4142535|PMID:20522787 20100903 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:23640035 2891 Il1b interleukin 1 beta gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730981 D RGD:4143167|PMID:16126303 20100915 RGD DNA:polymorphism: :-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:4079 heart valve disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2891 Il1b interleukin 1 beta gene DOID:418 systemic scleroderma susceptibility ISO RGD:730981 D RGD:4142872|PMID:17444587 20100914 RGD DNA:polymorphisms:promoter:-31T>C,-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:4195 hyperglycemia IEP D RGD:1626631|PMID:17047293 20070813 RGD associated with Diabetes Mellitus, Experimental 2891 Il1b interleukin 1 beta gene DOID:4362 cervical cancer susceptibility ISO RGD:730981 D RGD:36174015|PMID:25893807 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) 2891 Il1b interleukin 1 beta gene DOID:4481 allergic rhinitis ISO RGD:730981 D RGD:7401199|PMID:7750009 20131107 RGD protein:increased expression:nasal mucus 2891 Il1b interleukin 1 beta gene DOID:4483 rhinitis IEP D RGD:4142821|PMID:20490816 20100913 RGD mRNA:increased expression:nasal cavity epithelium 2891 Il1b interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:730981 D RGD:4143227|PMID:10224452 20100920 RGD associated with Hypersensitivity;protein:increased expression:nasal mucus 2891 Il1b interleukin 1 beta gene DOID:4483 rhinitis susceptibility ISO RGD:730981 D RGD:4142859|PMID:14533660 20100920 RGD associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:4692 endophthalmitis IEP D RGD:7829753|PMID:16544114 20140123 RGD protein:increased expression:vitreous: 2891 Il1b interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:7401232|PMID:9198037 20131111 RGD mRNA, protein:increased expression:kidney 2891 Il1b interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10790 D RGD:6893447|PMID:22046355 20121130 RGD mRNA:increased expression:kidney (mouse) 2891 Il1b interleukin 1 beta gene DOID:4989 pancreatitis IDA D RGD:7204440|PMID:23070084 20121218 RGD 2891 Il1b interleukin 1 beta gene DOID:5041 esophageal cancer treatment ISO RGD:730981 D RGD:152998997|PMID:26603620 20220715 RGD 2891 Il1b interleukin 1 beta gene DOID:5199 ureteral obstruction IDA D RGD:7175323|PMID:21370451 20121203 RGD 2891 Il1b interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:10790 D RGD:7175301|PMID:22048127 20121130 RGD mRNA, protein:increased expression:kidney (mouse) 2891 Il1b interleukin 1 beta gene DOID:535 sleep disorder ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520785 2891 Il1b interleukin 1 beta gene DOID:5419 schizophrenia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 2891 Il1b interleukin 1 beta gene DOID:5463 cochlear disease treatment IEP D RGD:13792837|PMID:29304389 20181002 RGD 2891 Il1b interleukin 1 beta gene DOID:552 pneumonia IEP D RGD:4142536|PMID:20476872 20050629 RGD mRNA:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:4142812|PMID:20007584 20100913 RGD 2891 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:4142827|PMID:20155581 20100913 RGD mRNA, protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:4143211|PMID:19901996 20100920 RGD 2891 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2891 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:4142831|PMID:19825784 20100913 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:5614 eye disease ISO RGD:730981 D RGD:14975256|PMID:26654556 20191003 RGD asociated with Behcet's disease 2891 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction IDA D RGD:7175553|PMID:23143013 20121210 RGD 2891 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction IEP D RGD:7204425|PMID:23237935 20121218 RGD protein:increased expression:serum (rat) 2891 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11743230|PMID:15883752|PMID:16310260 2891 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction ameliorates IEP D RGD:242905187|PMID:33389498 20230327 RGD 2891 Il1b interleukin 1 beta gene DOID:6000 congestive heart failure ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15135663 2891 Il1b interleukin 1 beta gene DOID:614 lymphopenia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 2891 Il1b interleukin 1 beta gene DOID:630 genetic disease ISO RGD:730981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2891 Il1b interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:4142530|PMID:20713898 20100903 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:4892610|PMID:20808962 20100903 RGD associated with Scleroderma, Limited;protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730981 D RGD:7401222|PMID:21653279 20131108 RGD DNA:polymorphism:promoter:-31T>C (human) 2891 Il1b interleukin 1 beta gene DOID:699 mitochondrial myopathy ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:705 Leber hereditary optic neuropathy ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12566094|PMID:17379860|PMID:22450443 2891 Il1b interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:synovial (human) 2891 Il1b interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:6482656|PMID:22414257 20120425 RGD protein:decreased expression:serum 2891 Il1b interleukin 1 beta gene DOID:7427 anthrax disease disease_progression ISO RGD:10790 D RGD:40902812|PMID:19075243 20201210 RGD mRNA:decreased expression:multiple (mouse) 2891 Il1b interleukin 1 beta gene DOID:750 peptic ulcer disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 2891 Il1b interleukin 1 beta gene DOID:769 neuroblastoma ISO RGD:730981 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 2891 Il1b interleukin 1 beta gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20201001 RGD protein:decreased expression:serum (rat) 2891 Il1b interleukin 1 beta gene DOID:783 end stage renal disease IDA D RGD:7175302|PMID:22031851 20121130 RGD 2891 Il1b interleukin 1 beta gene DOID:783 end stage renal disease IEP D RGD:7175346|PMID:20199183 20121204 RGD protein:increased expression:plasma (rat) 2891 Il1b interleukin 1 beta gene DOID:783 end stage renal disease no_association ISO RGD:730981 D RGD:6907070|PMID:20551628 20121025 RGD DNA:SNP 2891 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease IDA D RGD:7175095|PMID:22728154 20121127 RGD 2891 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:10790 D RGD:7175304|PMID:21975861 20121130 RGD mRNA:increased expression:kidney (mouse) 2891 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:6906881|PMID:22795294 20121025 RGD associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human) 2891 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:7175169|PMID:22613545 20121128 RGD 2891 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:7175171|PMID:22398717 20121128 RGD protein:decreased expression:serum (human) 2891 Il1b interleukin 1 beta gene DOID:824 periodontitis IEP D RGD:7175547|PMID:23167849 20121210 RGD mRNA:increased expression:gingiva, stroma (rat) 2891 Il1b interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:10450515|PMID:21796505 20191011 RGD associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid 2891 Il1b interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:6906881|PMID:22795294 20121025 RGD mRNA:increased expression:gingiva 2891 Il1b interleukin 1 beta gene DOID:824 periodontitis treatment IEP D RGD:10450598|PMID:24586097 20160119 RGD 2891 Il1b interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:10790 D RGD:14975132|PMID:27795360 20190930 RGD 2891 Il1b interleukin 1 beta gene DOID:8398 osteoarthritis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21954917 2891 Il1b interleukin 1 beta gene DOID:8398 osteoarthritis treatment IEP D RGD:7207218|PMID:22890185 20140724 RGD 2891 Il1b interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis IMP D RGD:7401229|PMID:1519663 20131111 RGD 2891 Il1b interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis disease_progression ISO RGD:730981 D RGD:4142842|PMID:19556641 20100914 RGD protein:increased expression:serum (human) 2891 Il1b interleukin 1 beta gene DOID:850 lung disease IEP D RGD:4142810|PMID:20041965 20100913 RGD associated with Shock, Hemorrhagic 2891 Il1b interleukin 1 beta gene DOID:850 lung disease IEP D RGD:4142815|PMID:19926967 20100913 RGD associated with Pancreatitis;protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:850 lung disease IEP D RGD:4142819|PMID:19843795 20100913 RGD associated with Endotoxemia;protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:4142814|PMID:19941004 20100913 RGD associated with Reperfusion Injury;protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:4143189|PMID:9641262 20100916 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:850 lung disease susceptibility ISO RGD:730981 D RGD:4142870|PMID:17584583 20100914 RGD associated with Scleroderma, Systemic;DNA:SNP: :3962C>T (human) 2891 Il1b interleukin 1 beta gene DOID:8552 chronic myeloid leukemia severity ISO RGD:730981 D RGD:10450889|PMID:7949186 20160122 RGD 2891 Il1b interleukin 1 beta gene DOID:8577 ulcerative colitis IEP D RGD:10450593|PMID:24812904 20160119 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:730981 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209|PMID:20452301|PMID:22119283 2891 Il1b interleukin 1 beta gene DOID:8677 perinatal necrotizing enterocolitis IDA D RGD:7175550|PMID:23158403 20121210 RGD 2891 Il1b interleukin 1 beta gene DOID:869 cholesteatoma ISO RGD:730981 D RGD:7401205|PMID:1384343 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:869 cholesteatoma ISO RGD:730981 D RGD:7401208|PMID:8725537 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:8725 vascular dementia ISO RGD:730981 D RGD:1626633|PMID:16600299 20070814 RGD protein:increased expression:plasma 2891 Il1b interleukin 1 beta gene DOID:874 bacterial pneumonia ISO RGD:10790 D RGD:4143205|PMID:18596024 20100917 RGD 2891 Il1b interleukin 1 beta gene DOID:874 bacterial pneumonia severity ISO RGD:10790 D RGD:38501102|PMID:25398094 20200818 RGD 2891 Il1b interleukin 1 beta gene DOID:874 bacterial pneumonia treatment ISO RGD:730981 D RGD:10755357|PMID:7546648 20160126 RGD associated with Agranulocytosis 2891 Il1b interleukin 1 beta gene DOID:8893 psoriasis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 2891 Il1b interleukin 1 beta gene DOID:8927 learning disability ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 2891 Il1b interleukin 1 beta gene DOID:8929 atrophic gastritis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 2891 Il1b interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:2307061|PMID:18978347 20090623 RGD associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor 2891 Il1b interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:7401212|PMID:16284605 20131107 RGD protein:increased expression:serum, vitreous humour 2891 Il1b interleukin 1 beta gene DOID:8991 cervix uteri carcinoma in situ susceptibility ISO RGD:730981 D RGD:36174015|PMID:25893807 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) 2891 Il1b interleukin 1 beta gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:730981 D RGD:2317216|PMID:18940468 20100319 RGD associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries IDA D RGD:7175523|PMID:23209732 20121206 RGD 2891 Il1b interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries IEP D RGD:1626673|PMID:16038625 20070816 RGD mRNA, protein:increased expression:spinal cord 2891 Il1b interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:14975124|PMID:29691718 20190927 RGD 2891 Il1b interleukin 1 beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:10790 D RGD:14975282|PMID:31175857 20191004 RGD 2891 Il1b interleukin 1 beta gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:10790 D RGD:7175262|PMID:22253906 20121128 RGD 2891 Il1b interleukin 1 beta gene DOID:9000173 Eye Burns ISO RGD:10790 D RGD:7794723|PMID:9618720 20140108 RGD protein:increased expression:retina 2891 Il1b interleukin 1 beta gene DOID:9000197 Edema treatment ISO RGD:730981 D RGD:7401193|PMID:2611121 20131107 RGD associated with Inflammation 2891 Il1b interleukin 1 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15492468|PMID:19584167|PMID:22414649 2891 Il1b interleukin 1 beta gene DOID:9000304 Manganese Poisoning ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 2891 Il1b interleukin 1 beta gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 2891 Il1b interleukin 1 beta gene DOID:9000412 Presenile and Senile Dementia IDA D RGD:7193138|PMID:23126199 20121214 RGD 2891 Il1b interleukin 1 beta gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730981 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 2891 Il1b interleukin 1 beta gene DOID:9000528 Coronary Disease ISO RGD:730981 D RGD:1626636|PMID:15379752 20070814 RGD DNA:polymorphism 2891 Il1b interleukin 1 beta gene DOID:9000540 HIV Wasting Syndrome ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2891 Il1b interleukin 1 beta gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10790 D RGD:4143217|PMID:14754758 20100920 RGD mRNA, protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9000784 Fibrosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25388157 2891 Il1b interleukin 1 beta gene DOID:9000808 Hypercholesterolemia ISO RGD:730981 D RGD:1626623|PMID:17330503 20070813 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 2891 Il1b interleukin 1 beta gene DOID:9000918 Disease Progression ISO RGD:730981 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 2891 Il1b interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury IDA D RGD:6482672|PMID:22007788 20120425 RGD 2891 Il1b interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury IMP D RGD:4142537|PMID:20452617 20050629 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:10790 D RGD:4142534|PMID:20574227 20100903 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9000972 Fever IEP D RGD:1626671|PMID:16455768 20070816 RGD protein:increased expression:hypothalamus 2891 Il1b interleukin 1 beta gene DOID:9000972 Fever ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9952427|PMID:11852909|PMID:15384034|PMID:22143887|PMID:25164664 2891 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries IEP D RGD:1626652|PMID:17612572 20070814 RGD mRNA, protein:increased expression:brain 2891 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries IEP D RGD:2311098|PMID:16024175 20090623 RGD mRNA, protein:increased expression:cerebral cortex 2891 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries IEP D RGD:6482651|PMID:22503903 20120425 RGD protein:increased expression:brain, cerebrospinal fluid 2891 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 2891 Il1b interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:10790 D RGD:4142837|PMID:19633061 20100914 RGD 2891 Il1b interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:10450884|PMID:1581467 20160122 RGD 2891 Il1b interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 2891 Il1b interleukin 1 beta gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10790 D RGD:4142828|PMID:20065029 20100913 RGD 2891 Il1b interleukin 1 beta gene DOID:9001109 Anorexia IEP D RGD:13825124|PMID:22902858 20181114 RGD mRNA:increased expression:hypothalamus 2891 Il1b interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:730981 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:12077204|PMID:25392278 2891 Il1b interleukin 1 beta gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:730981 D RGD:10450883|PMID:1331350 20160714 RGD associated with Glioblastoma; 2891 Il1b interleukin 1 beta gene DOID:9001240 Peripheral Nerve Injuries IDA D RGD:7204126|PMID:23121415 20121214 RGD tibial and peroneal nerves 2891 Il1b interleukin 1 beta gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:7204488|PMID:23009062 20121220 RGD protein:increased expression:serum (rat) 2891 Il1b interleukin 1 beta gene DOID:9001488 Human Influenza ISO RGD:10790 D RGD:4142822|PMID:20438620 20100913 RGD 2891 Il1b interleukin 1 beta gene DOID:9001542 Albuminuria ISO RGD:10790 D RGD:7175089|PMID:23103566 20121127 RGD 2891 Il1b interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 2891 Il1b interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:10450610|PMID:24383550 20160119 RGD 2891 Il1b interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock IEP D RGD:1626655|PMID:17545943 20070815 RGD mRNA:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2311100|PMID:15580020 20090624 RGD mRNA:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock severity IEP D RGD:7175325|PMID:21336199 20121129 RGD protein:increased expression:kidney, serum (rat) 2891 Il1b interleukin 1 beta gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7401191|PMID:7890488 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury IDA D RGD:7175318|PMID:21468628 20121203 RGD associated with Cholestasis 2891 Il1b interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10790 D RGD:155260323|PMID:32155285 20220930 RGD 2891 Il1b interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies IDA D RGD:7175519|PMID:19769609 20121206 RGD associated with Diabetes Mellitus, Experimental 2891 Il1b interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:10790 D RGD:7175266|PMID:22086159 20121129 RGD associated with Diabetes Mellitus, Type 2 2891 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia IDA D RGD:1626676|PMID:15317861 20070816 RGD 2891 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia IDA D RGD:6482671|PMID:22265659 20120425 RGD 2891 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia IDA D RGD:7175548|PMID:23159984 20121210 RGD associated with Peripheral Nerve Injuries 2891 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7582491|PMID:10401557|PMID:12727271|PMID:17320857|PMID:20937348|PMID:27093858 2891 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:7401209|PMID:8741165 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730981 D RGD:11051967|PMID:18271063 20160412 RGD DNA:SNP:promoter:-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:730981 D RGD:11522755|PMID:10870116 20160808 RGD protein:decreased expression:plasma: 2891 Il1b interleukin 1 beta gene DOID:9002371 Cardiotoxicity ISO RGD:730981 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 2891 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis IDA D RGD:7175317|PMID:21557995 20121203 RGD 2891 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis IEP D RGD:7193038|PMID:23140046 20121214 RGD protein:increased expression:serum (rat) 2891 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330884|PMID:20131233|PMID:20974942|PMID:22450443 2891 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:10755447|PMID:24028507 20160128 RGD 2891 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:13792834|PMID:29408684 20181002 RGD 2891 Il1b interleukin 1 beta gene DOID:9002503 Neutropenic Enterocolitis IEP D RGD:7204427|PMID:23228325 20121218 RGD protein:increased expression:small intestine (rat) 2891 Il1b interleukin 1 beta gene DOID:9002676 Cerebral Hemorrhage ameliorates IEP D RGD:329337378|PMID:31376096 20230429 RGD 2891 Il1b interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction IDA D RGD:7204493|PMID:23251531 20121220 RGD 2891 Il1b interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:10790 D RGD:7204493|PMID:23251531 20121220 RGD 2891 Il1b interleukin 1 beta gene DOID:9002805 Enterocolitis IEP D RGD:2311103|PMID:8144001 20090624 RGD mRNA:increased expression:cecum (rat) 2891 Il1b interleukin 1 beta gene DOID:9002906 Multiple Organ Failure IDA D RGD:7175322|PMID:21392091 20121203 RGD associated with Heat Stroke 2891 Il1b interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:10790 D RGD:7175326|PMID:21323892 20121203 RGD 2891 Il1b interleukin 1 beta gene DOID:9002928 Colonic Neoplasms ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:18987561|PMID:19028472 2891 Il1b interleukin 1 beta gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:730981 D RGD:4142867|PMID:18484169 20140108 RGD DNA:polymorphism, haplotype: :-511C>T (human) 2891 Il1b interleukin 1 beta gene DOID:9003281 Spontaneous Abortions ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2891 Il1b interleukin 1 beta gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:7204438|PMID:23110519 20121218 RGD protein:increased expression:brain (rat) 2891 Il1b interleukin 1 beta gene DOID:9003730 Chemical Burns ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2891 Il1b interleukin 1 beta gene DOID:9003871 Venous Thrombosis IEP D RGD:2311092|PMID:17651586 20090623 RGD 2891 Il1b interleukin 1 beta gene DOID:9003936 Cardiomegaly IEP D RGD:1581939|PMID:15542404 20140321 RGD mRNA, protein:increased expression:heart 2891 Il1b interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302781 2891 Il1b interleukin 1 beta gene DOID:9004009 Reperfusion Injury ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:12468449|PMID:15829914|PMID:19058328|PMID:19673871 2891 Il1b interleukin 1 beta gene DOID:9004086 AIDS Dementia Complex IEP D RGD:1626641|PMID:17678975 20070814 RGD protein:increased expression:neocortex 2891 Il1b interleukin 1 beta gene DOID:9004118 Experimental Melanoma ISO RGD:730981 D RGD:7401226|PMID:1966551 20131111 RGD 2891 Il1b interleukin 1 beta gene DOID:9004283 Transplant Rejection ISO RGD:730981 D RGD:7175098|PMID:22663993 20121127 RGD DNA:snp:intron:g.3962C>T (human) 2891 Il1b interleukin 1 beta gene DOID:9004283 Transplant Rejection severity ISO RGD:730981 D RGD:7401188|PMID:8094579 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9004484 Sepsis IEP D RGD:1626657|PMID:17529909 20070815 RGD protein:increased expression:plasma 2891 Il1b interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:730981 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 2891 Il1b interleukin 1 beta gene DOID:9004484 Sepsis treatment IEP D RGD:7175319|PMID:21429520 20121203 RGD 2891 Il1b interleukin 1 beta gene DOID:9004547 Thyroid Neoplasms ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 2891 Il1b interleukin 1 beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730981 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27567548 2891 Il1b interleukin 1 beta gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:730981 D RGD:10450883|PMID:1331350 20160714 RGD associated with Glioblastoma; 2891 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury IDA D RGD:7204498|PMID:22982561 20121221 RGD 2891 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury IEP D RGD:4142531|PMID:20663306 20100903 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury IEP D RGD:4143193|PMID:8613550 20100916 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury IEP D RGD:6480432|PMID:21767135 20120321 RGD mRNA, protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:10790 D RGD:4142807|PMID:20153312 20100913 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:730981 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 2891 Il1b interleukin 1 beta gene DOID:9004649 Heat Stroke ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2891 Il1b interleukin 1 beta gene DOID:9004649 Heat Stroke treatment IEP D RGD:12902613|PMID:10970434 20170509 RGD 2891 Il1b interleukin 1 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 2891 Il1b interleukin 1 beta gene DOID:9004932 Eales Disease ISO RGD:730981 D RGD:7401211|PMID:19585364 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9005172 Lung Neoplasms ISO RGD:730981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:22369883|PMID:28212736 2891 Il1b interleukin 1 beta gene DOID:9005372 Inflammation IDA D RGD:7204492|PMID:22994521 20121220 RGD associated with Anoxia 2891 Il1b interleukin 1 beta gene DOID:9005372 Inflammation IEP D RGD:1626645|PMID:17676395 20070814 RGD associated with Cholestasis;mRNA:increased expression:liver 2891 Il1b interleukin 1 beta gene DOID:9005372 Inflammation IEP D RGD:1626679|PMID:15050649 20070817 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma 2891 Il1b interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:730981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:9952427|PMID:11181422|PMID:16227999|PMID:21437948|PMID:21467745|PMID:22001142|PMID:23640035|PMID:24609059|PMID:28212736 2891 Il1b interleukin 1 beta gene DOID:9005372 Inflammation treatment IEP D RGD:11059519|PMID:26069367 20160414 RGD 2891 Il1b interleukin 1 beta gene DOID:9005372 Inflammation treatment IEP D RGD:11059520|PMID:25706245 20160414 RGD 2891 Il1b interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:7175529|PMID:23197974 20121206 RGD 2891 Il1b interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1626620|PMID:17669395 20070814 RGD mRNA:increased expression:skeletal muscle 2891 Il1b interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12123627 2891 Il1b interleukin 1 beta gene DOID:9005666 Contrast-Induced Nephropathy IDA D RGD:7175334|PMID:22094062 20121204 RGD associated with Diabetes Mellitus, Experimental 2891 Il1b interleukin 1 beta gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:730981 D RGD:10044253|PMID:22173919 20150605 RGD 2891 Il1b interleukin 1 beta gene DOID:9005749 Necrosis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10903806|PMID:10909967 2891 Il1b interleukin 1 beta gene DOID:9005930 Endotoxemia IEP D RGD:1626625|PMID:17201737 20070813 RGD protein:increased expression:plasma 2891 Il1b interleukin 1 beta gene DOID:9005941 Rhinosinusitis ISO RGD:730981 D RGD:7401169|PMID:11197112 20131106 RGD protein:increased expression:nasal cavity epithelium 2891 Il1b interleukin 1 beta gene DOID:9006024 Hypotension ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1884014|PMID:15384034 2891 Il1b interleukin 1 beta gene DOID:9006205 Animal Disease Models ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 2891 Il1b interleukin 1 beta gene DOID:9006223 Kidney Reperfusion Injury IDA D RGD:7175501|PMID:20030532 20121205 RGD 2891 Il1b interleukin 1 beta gene DOID:9006358 Postoperative Cognitive Dysfunction IDA D RGD:7204702|PMID:22959208 20121227 RGD 2891 Il1b interleukin 1 beta gene DOID:9006388 Vulvar Vestibulitis ISO RGD:730981 D RGD:7394738|PMID:9015038 20131106 RGD 2891 Il1b interleukin 1 beta gene DOID:9006554 Pancreatic Cyst disease_progression ISO RGD:730981 D RGD:7794719|PMID:21266527 20140108 RGD 2891 Il1b interleukin 1 beta gene DOID:9006647 Experimental Autoimmune Neuritis treatment IEP D RGD:7401218|PMID:18400050 20131108 RGD 2891 Il1b interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury IDA D RGD:7183185|PMID:23142117 20121213 RGD 2891 Il1b interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury IEP D RGD:7204125|PMID:23122581 20121214 RGD protein:increased expression:lung (rat) 2891 Il1b interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10790 D RGD:153350155|PMID:34238924 20220914 RGD 2891 Il1b interleukin 1 beta gene DOID:9006939 Lyme Neuroborreliosis IDA D RGD:7193053|PMID:23134838 20121214 RGD 2891 Il1b interleukin 1 beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10790 D RGD:7401195|PMID:11895986 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9007096 Stroke ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 2891 Il1b interleukin 1 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2891 Il1b interleukin 1 beta gene DOID:9007334 Small-For-Size Syndrome treatment IDA D RGD:8655911|PMID:22955229 20140522 RGD 2891 Il1b interleukin 1 beta gene DOID:9007346 Cachexia IDA D RGD:1626680|PMID:15005009 20070817 RGD associated with Inflammation 2891 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury IDA D RGD:7204421|PMID:23102243 20121218 RGD 2891 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19164858|PMID:28138970 2891 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:13793380|PMID:29278859 20181003 RGD 2891 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15036799|PMID:31342809 20191115 RGD 2891 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 2891 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10790 D RGD:14975281|PMID:31077717 20191004 RGD 2891 Il1b interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:10450534|PMID:7923933 20160115 RGD associated with Agranulocytosis 2891 Il1b interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:7401204|PMID:7486912 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9007588 Heart Injuries IEP D RGD:7401227|PMID:17719662 20131111 RGD protein:increased expression:spinal cord 2891 Il1b interleukin 1 beta gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10790 D RGD:242905211|PMID:32084395 20230329 RGD associated with obesity 2891 Il1b interleukin 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:10790 D RGD:1626632|PMID:16865359 20070814 RGD associated with Obesity;mRNA:increased expression:adipose tissue 2891 Il1b interleukin 1 beta gene DOID:9007692 Insulin Resistance treatment IEP D RGD:13792596|PMID:29522769 20181002 RGD associated with hypothalamic disease 2891 Il1b interleukin 1 beta gene DOID:9007730 Burns ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 2891 Il1b interleukin 1 beta gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:730981 D RGD:11051970|PMID:23461376 20160412 RGD DNA:SNP:promoter:-511C>T (rs 16944) (human) 2891 Il1b interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1626628|PMID:17134725 20070813 RGD mRNA:increased expression:heart 2891 Il1b interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220925 RGD 2891 Il1b interleukin 1 beta gene DOID:9007956 Febrile Seizures IDA D RGD:1626672|PMID:16393156 20070816 RGD 2891 Il1b interleukin 1 beta gene DOID:9007964 Arsenic Poisoning ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 2891 Il1b interleukin 1 beta gene DOID:9008023 Memory Disorders ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 2891 Il1b interleukin 1 beta gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10790 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 2891 Il1b interleukin 1 beta gene DOID:9008617 Lethargy ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22143887 2891 Il1b interleukin 1 beta gene DOID:9008821 Otitis Media with Effusion ISO RGD:10790 D RGD:7394746|PMID:18568516 20131107 RGD 2891 Il1b interleukin 1 beta gene DOID:9008865 Entamoebiasis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 2891 Il1b interleukin 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:730981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:28212736 2891 Il1b interleukin 1 beta gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:10790 D RGD:4142825|PMID:20308302 20100913 RGD protein:increased expression:lung (mouse) 2891 Il1b interleukin 1 beta gene DOID:9009039 Hyperemia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8846404 2891 Il1b interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:kidney (human) 2891 Il1b interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:7401214|PMID:15470475 20131107 RGD DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human) 2891 Il1b interleukin 1 beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 2891 Il1b interleukin 1 beta gene DOID:9146 visceral leishmaniasis ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 2891 Il1b interleukin 1 beta gene DOID:9279 hyperhomocysteinemia ISO RGD:10790 D RGD:7175168|PMID:22647887 20121128 RGD protein:increased expression:renal glomerulus (mouse) 2891 Il1b interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:730981 D RGD:14975146|PMID:28843383 20191001 RGD 2891 Il1b interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730981 D RGD:7175255|PMID:21205020 20121128 RGD DNA:snp:exon:g.3968C>T rs1143634 (human) 2891 Il1b interleukin 1 beta gene DOID:9362 status asthmaticus ISO RGD:730981 D RGD:4143184|PMID:9927362 20100916 RGD protein:increased expression:lung 2891 Il1b interleukin 1 beta gene DOID:9402 epididymitis IEP D RGD:13792835|PMID:29311626 20181002 RGD 2891 Il1b interleukin 1 beta gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 2891 Il1b interleukin 1 beta gene DOID:9452 fatty liver disease IEP D RGD:1626661|PMID:17436085 20070816 RGD protein:increased expression:serum 2891 Il1b interleukin 1 beta gene DOID:9538 multiple myeloma ISO RGD:730981 D RGD:11051973|PMID:17926179 20160412 RGD DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) 2891 Il1b interleukin 1 beta gene DOID:9563 bronchiectasis ISO RGD:730981 D RGD:4143181|PMID:10515411 20100915 RGD protein:increased expression:sputum 2891 Il1b interleukin 1 beta gene DOID:9588 encephalitis IEP D RGD:5147676|PMID:16006567 20120322 RGD protein:increased expression:brain (rat) 2891 Il1b interleukin 1 beta gene DOID:9743 diabetic neuropathy treatment IEP D RGD:7401217|PMID:23280817 20131108 RGD 2891 Il1b interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:7175335|PMID:21848584 20121204 RGD mRNA:increased expression:peripheral blood, leukocyte (human) 2891 Il1b interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:7401233|PMID:1797022 20131111 RGD 2891 Il1b interleukin 1 beta gene DOID:9970 obesity IEP D RGD:7175343|PMID:20490358 20121204 RGD protein:increased expression:kidney (rat) 2891 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:1626637|PMID:16567518 20070814 RGD 2891 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:7175086|PMID:23150506 20121127 RGD protein:increased expression:plasma (mouse) 2891 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:730981 D RGD:14975146|PMID:28843383 20191001 RGD 2891 Il1b interleukin 1 beta gene DOID:9970 obesity treatment ISO RGD:10790 D RGD:10450599|PMID:24146106 20160119 RGD 2891 Il1b interleukin 1 beta gene DOID:9993 hypoglycemia ISO RGD:730981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:30296676|PMID:32416070 20200616 RGD protein:increased expression:serum: 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 severity ISO RGD:735430 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 severity ISO RGD:735430 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:0080685 aortic dissection ISO RGD:735430 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:735430 D RGD:8662931|PMID:8737779 20140627 RGD protein:decreased expression:skin 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:11121 pulpitis IEP D RGD:8662895|PMID:19732182 20140626 RGD protein:increased expression:dental pulp,trigeminal ganglion: 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:1205 allergic disease ISO RGD:735430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:289 endometriosis ISO RGD:735430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:2921 glomerulonephritis ISO RGD:735431 D RGD:7207036|PMID:17500042 20130116 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735430 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:37 skin disease ISO RGD:735430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:418 systemic scleroderma ISO RGD:735430 D RGD:8662902|PMID:1375465 20140626 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:552 pneumonia ISO RGD:735430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:630 genetic disease ISO RGD:735430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:7207035|PMID:16456668 20130116 RGD mRNA,protein:increased expression:spinal cord 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:735431 D RGD:2311107|PMID:17901159 20090624 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9000998 Brain Injuries ISO RGD:735430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:5037239|PMID:11311987 20110303 RGD mRNA:increased expression:hypoglossal nerve 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia IMP D RGD:8662898|PMID:19022353 20140626 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:735431 D RGD:8662903|PMID:11585580 20140626 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9003321 Bacterial Keratitis ISO RGD:735431 D RGD:8662876|PMID:23033384 20140626 RGD associated with Serratia Infections; 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735430 D RGD:5037238|PMID:18637763 20110303 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9003730 Chemical Burns ISO RGD:735430 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:735431 D RGD:5037237|PMID:16797208 20110303 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:735431 D RGD:8662882|PMID:19168746 20140626 RGD 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:2311106|PMID:11197691 20090624 RGD DNA:SNP (human) 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:6892703|PMID:8911996 20090624 RGD DNA:polymorphism 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:2311068|PMID:7835294 20090623 RGD protein:decreased expression:pancreatic islet 2892 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISS RGD:735431 D RGD:13592920 20180518 MouseDO OMIM:222100 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:409 liver disease ISO RGD:732294 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:5419 schizophrenia ISO RGD:732294 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732294 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:630 genetic disease ISO RGD:732294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:684 hepatocellular carcinoma ISO RGD:732294 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:9000918 Disease Progression ISO RGD:732294 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 2893 Il1rap interleukin 1 receptor accessory protein gene DOID:9002189 High Myopia ISO RGD:732294 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736158 D RGD:5144236|PMID:14555548 20110802 RGD protein:increased expression:serum 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0050256 angiostrongyliasis ISO RGD:736159 D RGD:40400713|PMID:23148283 20201103 RGD mRNA:increased expression:brain: 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0050256 angiostrongyliasis treatment ISO RGD:736159 D RGD:11561855|PMID:24657070 20201030 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:736158 D RGD:39938972|PMID:25193287 20201016 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736158 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0060180 colitis severity ISO RGD:736159 D RGD:40400694|PMID:23172891 20201030 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0060496 respiratory allergy ISO RGD:736159 D RGD:39938968|PMID:25746970 20201016 RGD associated with Fungal Lung Diseases 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0080685 aortic dissection ISO RGD:736158 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:736159 D RGD:11343232|PMID:26518437 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 treatment ISO RGD:736159 D RGD:11343232|PMID:26518437 20201030 RGD associated with lymphocytic choriomeningitis 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:1080 filariasis ISO RGD:736159 D RGD:40400889|PMID:27592711 20201105 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:11166 papillomavirus infectious disease ISO RGD:736158 D RGD:39938848|PMID:30935248 20201014 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:736158 D RGD:40400702|PMID:25658420 20201102 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:736159 D RGD:40400708|PMID:25829541 20201102 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:12205 dengue disease treatment ISO RGD:736159 D RGD:39938828|PMID:30098206 20201013 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:12365 malaria ISO RGD:736159 D RGD:39938859|PMID:28359899 20201014 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:736158 D RGD:39458200|PMID:30467800 20201013 RGD associated with Escherichia Coli Infections; 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:736158 D RGD:39938858|PMID:28992214 20201014 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736159 D RGD:5144238|PMID:11283151 20110802 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:14069 cerebral malaria treatment ISO RGD:736159 D RGD:40400741|PMID:25682948 20201104 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21150878|PMID:21804549|PMID:24241537|PMID:27472835 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:5144240|PMID:21150878 20110802 RGD DNA:SNP: :rs10197862 (human) 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:5144242|PMID:19852851 20110802 RGD DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:5144243|PMID:19198610 20110802 RGD DNA:SNP: :rs1420101 (human) 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:5144235|PMID:17623648 20110802 RGD protein:increased expression:serum 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:5144244|PMID:19179489 20110802 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:5144245|PMID:17407196 20110802 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma severity ISO RGD:736158 D RGD:5144237|PMID:11463601 20110802 RGD protein:increased expression:serum 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2841 asthma susceptibility ISO RGD:736158 D RGD:5144239|PMID:21281963 20110802 RGD DNA:SNP: :rs1041973 (human) 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736159 D RGD:39938965|PMID:28128217 20201016 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736158 D RGD:5144227|PMID:19927353 20110802 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736159 D RGD:40400740|PMID:30952808 20201104 RGD mRNA:increased expression:lung: 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:3393 coronary artery disease severity ISO RGD:736158 D RGD:5144241|PMID:20602249 20110802 RGD DNA:polymorphisms: :-27307T>A, -27614C>A (human) 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:4483 rhinitis severity ISO RGD:736158 D RGD:5144228|PMID:19671251 20110802 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:5082 liver cirrhosis severity ISO RGD:736159 D RGD:39938956|PMID:31200771 20201015 RGD associated with Schistosomiasis Japonica 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:630 genetic disease ISO RGD:736158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:646 viral encephalitis ISO RGD:736159 D RGD:39457934|PMID:27334012 20201008 RGD mRNA:increased expression:brain 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:646 viral encephalitis severity ISO RGD:736159 D RGD:39457934|PMID:27334012 20201008 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:874 bacterial pneumonia ISO RGD:736159 D RGD:5144223|PMID:20959556 20110802 RGD associated with Sepsis 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:874 bacterial pneumonia treatment IEP D RGD:40818077|PMID:29508184 20201110 RGD associated with Acinetobacter infectious disease 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736158 D RGD:39938857|PMID:28381383 20201014 RGD associated with hepatitis B; 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9000590 Dyspnea disease_progression ISO RGD:736158 D RGD:5144224|PMID:20804518 20110802 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736158 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32777237 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736158 D RGD:39938855|PMID:25808546 20201014 RGD mRNA:increased expression:gingiva 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9002457 Experimental Arthritis ISO RGD:736158 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9002992 Nematode Infections severity ISO RGD:736159 D RGD:40400689|PMID:27697499 20201030 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9003870 Herpes Simplex Encephalitis severity ISO RGD:736159 D RGD:39939003|PMID:26872602 20201019 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9003936 Cardiomegaly severity ISO RGD:736159 D RGD:40813740|PMID:17492053 20201109 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9004484 Sepsis severity ISO RGD:736159 D RGD:39938964|PMID:30001716 20201016 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736158 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21352201 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736159 D RGD:5144222|PMID:21352201 20110802 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:40400909|PMID:29329586 20201105 RGD protein:increased expression:spinal cord: 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:736159 D RGD:40400705|PMID:25926677 20201102 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9006535 Hookworm Infections ISO RGD:736159 D RGD:39938827|PMID:22329990 20201013 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:736158 D RGD:39938857|PMID:28381383 20201014 RGD protein:increased expression:serum: 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:736158 D RGD:39457933|PMID:27180842 20201008 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9408 acute myocardial infarction IEP D RGD:40813741|PMID:24837094 20201109 RGD 2894 Il1rl1 interleukin 1 receptor-like 1 gene DOID:9675 pulmonary emphysema treatment ISO RGD:736159 D RGD:40400740|PMID:30952808 20201104 RGD associated with common cold; 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735947 D RGD:5147438|PMID:21309737 20110804 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050200 Korean hemorrhagic fever treatment IMP D RGD:2325989|PMID:17878294 20200908 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISS RGD:735948 D RGD:13592920 20180518 MouseDO 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:735947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735947 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735947 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735947 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735947 D RGD:32716368|PMID:32297828 20200625 RGD protein:increased expression:serum (human) 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735947 D RGD:36049814|PMID:32164089 20200721 RGD protein:increased expression:serum (human) 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 ISO RGD:735947 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 ISO RGD:735947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 10 PMID:17576681|PMID:17676041|PMID:25741868|PMID:28492532|PMID:9536098 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 susceptibility ISO RGD:735947 D RGD:7240710 20230505 OMIM 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 ISO RGD:735947 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency PMID:16199547|PMID:17196245|PMID:17576681|PMID:23261300|PMID:23416241|PMID:24033266|PMID:24116927|PMID:25741868|PMID:28492532|PMID:9096364|PMID:9536098 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 susceptibility ISO RGD:735947 D RGD:7240710 20230505 OMIM 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:10322 berylliosis ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8977230 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:10325 silicosis ISO RGD:735948 D RGD:4891500|PMID:21072213 20110804 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ISO RGD:735947 D RGD:5147436|PMID:21436245 20110804 RGD protein:increased expression:T cell 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735948 D RGD:5147443|PMID:20639494 20110804 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:12894 Sjogren's syndrome ISS RGD:735948 D RGD:13592920 20180518 MouseDO OMIM:270150 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:1790 malignant mesothelioma ISO RGD:735947 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17660530|PMID:19119414|PMID:19525955|PMID:24076602 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:2311526|PMID:19125193 20090722 RGD DNA:SNPs: :multiple 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:2841 asthma IDA D RGD:2325990|PMID:17351063 20100616 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735948 D RGD:5147437|PMID:21377197 20110804 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735948 D RGD:5147445|PMID:20525707 20110804 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:2921 glomerulonephritis ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:735947 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:614 lymphopenia ISO RGD:735947 D RGD:1600117|PMID:9096364 20070228 RGD IL2RA/CD25 Deficiency, OMIM:606367 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:20476861|PMID:23143596 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9002457 Experimental Arthritis IDA D RGD:2325988|PMID:17928458 20100616 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2311529|PMID:19269041 20090722 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2311530|PMID:18503494 20100616 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IDA D RGD:2325986|PMID:18250419 20100616 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9351 diabetes mellitus IMP D RGD:2311530|PMID:18503494 20090722 RGD 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:17676041|PMID:19119414|PMID:19701192|PMID:30224649 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:2311527|PMID:19119414 20090722 RGD DNA:SNPs 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735947 D RGD:2311528|PMID:19106270 20090722 RGD DNA:SNPs 2895 Il2ra interleukin 2 receptor subunit alpha gene DOID:986 alopecia areata ISO RGD:735947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:0080600 COVID-19 severity ISO RGD:737611 D RGD:32716368|PMID:32297828 20200625 RGD protein:increased expression:serum (human) 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:737611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:7240710 20190731 OMIM 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity PMID:25741868|PMID:28492532|PMID:31040185 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:1205 allergic disease ISO RGD:737611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:1697 ichthyosis ISO RGD:737611 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Ichthyosis 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:2043 hepatitis B disease_progression ISO RGD:737611 D RGD:42724467|PMID:29307521 20210310 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:2113 coccidiosis exacerbates ISO RGD:732849 D RGD:42724464|PMID:20460838 20210310 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:732849 D RGD:5147447|PMID:18641329 20110804 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:737611 D RGD:5024942|PMID:20860503 20110804 RGD DNA:SNP: :rs2284033 (human) 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:350 mastocytosis ISO RGD:732849 D RGD:42724469|PMID:21301182 20210310 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:417 autoimmune disease ISO RGD:732849 D RGD:5684380|PMID:12196288 20111216 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:437 myasthenia gravis ISO RGD:737611 D RGD:5684377|PMID:20728947 20111216 RGD DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:552 pneumonia ISO RGD:737611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:737611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:7148 rheumatoid arthritis ISO RGD:737611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:883 parasitic helminthiasis infectious disease ameliorates ISO RGD:732849 D RGD:42724469|PMID:21301182 20210310 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9004283 Transplant Rejection ameliorates ISO RGD:732849 D RGD:42733040|PMID:9293878 20210311 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9005106 Animal Toxoplasmosis ameliorates ISO RGD:732849 D RGD:42724468|PMID:11286020 20210310 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737611 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9007329 Human Viral Hepatitis ISO RGD:737611 D RGD:42724465|PMID:1325198 20210310 RGD protein:decreased expression:peripheral blood lymphocyte 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9008707 Viremia ISO RGD:737611 D RGD:42724467|PMID:29307521 20210310 RGD 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:737611 D RGD:42724466|PMID:17108990 20210310 RGD DNA:polymorphisms:exon:8777, 8838(human) 2896 Il2rb interleukin 2 receptor subunit beta gene DOID:9744 type 1 diabetes mellitus ameliorates ISO RGD:732849 D RGD:42733039|PMID:29367461 20210311 RGD 2897 Il3 interleukin 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 2897 Il3 interleukin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2897 Il3 interleukin 3 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737391 D RGD:5686901|PMID:20332709 20120131 RGD DNA: SNP: : rs40401 2897 Il3 interleukin 3 gene DOID:10652 Alzheimer's disease ISO RGD:737391 D RGD:5686815|PMID:17934472 20120126 RGD protein:decreased expression:plasma 2897 Il3 interleukin 3 gene DOID:10652 Alzheimer's disease ISO RGD:737391 D RGD:5686817|PMID:18769539 20120126 RGD 2897 Il3 interleukin 3 gene DOID:11132 prostatic hypertrophy IEP D RGD:5684375|PMID:20945403 20120131 RGD mRNA: increased expression: prostate 2897 Il3 interleukin 3 gene DOID:11400 pyelonephritis IEP D RGD:2317665|PMID:18214547 20100415 RGD mRNA:increased expression:kidney 2897 Il3 interleukin 3 gene DOID:12361 Graves' disease ISO RGD:737391 D RGD:5686901|PMID:20332709 20120131 RGD DNA: SNP: : rs40401 2897 Il3 interleukin 3 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 2897 Il3 interleukin 3 gene DOID:14566 disease of cellular proliferation ISO RGD:10793 D RGD:5686773|PMID:21537082 20120126 RGD DNA: mutations: multiple: Csf2,Il3,Ifng, strain dependent 2897 Il3 interleukin 3 gene DOID:1470 major depressive disorder ISO RGD:737391 D RGD:5686897|PMID:20479761 20120131 RGD mRNA: increased expression: BA10: frontal cortex 2897 Il3 interleukin 3 gene DOID:1588 thrombocytopenia ISO RGD:737391 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8202718 2897 Il3 interleukin 3 gene DOID:1790 malignant mesothelioma ISO RGD:737391 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2897 Il3 interleukin 3 gene DOID:1793 pancreatic cancer ISO RGD:737391 D RGD:2317663|PMID:15843207 20100415 RGD protein:increased expression:serum 2897 Il3 interleukin 3 gene DOID:2355 anemia ISO RGD:737391 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8202718|PMID:12090760 2897 Il3 interleukin 3 gene DOID:2841 asthma susceptibility ISO RGD:737391 D RGD:13506914|PMID:24684517 20180223 RGD DNA:SNP: :rs40401(human) 2897 Il3 interleukin 3 gene DOID:2841 asthma susceptibility ISO RGD:737391 D RGD:13506916|PMID:15372320 20180223 RGD DNA:polymorphism:cds:+79T>C(S27P)(human) 2897 Il3 interleukin 3 gene DOID:3347 osteosarcoma IMP D RGD:2317666|PMID:11268282 20100415 RGD 2897 Il3 interleukin 3 gene DOID:4325 Ebola hemorrhagic fever ISO RGD:737391 D RGD:5686879|PMID:20957152 20120131 RGD protein: reduced expression: plasma 2897 Il3 interleukin 3 gene DOID:5419 schizophrenia ISO RGD:737391 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2897 Il3 interleukin 3 gene DOID:615 leukopenia ISO RGD:737391 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8202718 2897 Il3 interleukin 3 gene DOID:630 genetic disease ISO RGD:737391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2897 Il3 interleukin 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737391 D RGD:5686905|PMID:20018070 20120131 RGD DNA: SNPs: Multiple: gene-gene interaction 2897 Il3 interleukin 3 gene DOID:8704 genital herpes ISO RGD:737391 D RGD:5686876|PMID:21175248 20120130 RGD RNA: increased expression 2897 Il3 interleukin 3 gene DOID:8893 psoriasis ISO RGD:737391 D RGD:5686909|PMID:19889595 20120131 RGD protein: decreased expression 2897 Il3 interleukin 3 gene DOID:9000252 Allergic Rhinoconjunctivitis susceptibility ISO RGD:737391 D RGD:13506915|PMID:23953855 20180223 RGD DNA:SNP: :rs40401(human) 2897 Il3 interleukin 3 gene DOID:9000998 Brain Injuries ISO RGD:737391 D RGD:5686886|PMID:20717122 20120131 RGD protein: increased expression: brain: microdialysis perfusate 2897 Il3 interleukin 3 gene DOID:9000998 Brain Injuries disease_progression IDA D RGD:5686795|PMID:21515263 20120126 RGD 2897 Il3 interleukin 3 gene DOID:9003369 Strongylida Infections ISO RGD:10793 D RGD:5686890|PMID:20500666 20120131 RGD 2897 Il3 interleukin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737391 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2897 Il3 interleukin 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737391 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8202718 2897 Il3 interleukin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2897 Il3 interleukin 3 gene DOID:9970 obesity ISO RGD:737391 D RGD:5686875|PMID:21203453 20120130 RGD protein: decreased expression: plasma 2898 Il4 interleukin 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 2898 Il4 interleukin 4 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:736306 D RGD:2317263|PMID:18798553 20100324 RGD 2898 Il4 interleukin 4 gene DOID:0050634 alopecia universalis ISO RGD:736306 D RGD:7829773|PMID:20671941 20140124 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:0050700 cardiomyopathy ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7578376 2898 Il4 interleukin 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:736306 D RGD:7829823|PMID:7963654 20140128 RGD mRNA:increased expression:skin 2898 Il4 interleukin 4 gene DOID:0060180 colitis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24314293 2898 Il4 interleukin 4 gene DOID:0060180 colitis treatment ISO RGD:10796 D RGD:8142400|PMID:9389741 20140131 RGD 2898 Il4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:10796 D RGD:5128506|PMID:21343358 20110307 RGD associated with Pneumonia, Pneumocystis carinii 2898 Il4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 2898 Il4 interleukin 4 gene DOID:0060500 drug allergy ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15867870|PMID:20485159 2898 Il4 interleukin 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 2898 Il4 interleukin 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2898 Il4 interleukin 4 gene DOID:0080600 COVID-19 severity ISO RGD:736306 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2898 Il4 interleukin 4 gene DOID:0080745 polymyositis ISO RGD:736306 D RGD:7794747|PMID:19953283 20140124 RGD mRNA:increased expression:skeletal muscle 2898 Il4 interleukin 4 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:736306 D RGD:11528633|PMID:20921925 20160817 RGD DNA:SNPs:promoter,5'UTR,intron:multiple 2898 Il4 interleukin 4 gene DOID:1003 pelvic inflammatory disease treatment IDA D RGD:10402794|PMID:24589604 20151029 RGD 2898 Il4 interleukin 4 gene DOID:10113 trypanosomiasis treatment IEP D RGD:10402804|PMID:24731531 20151029 RGD 2898 Il4 interleukin 4 gene DOID:10223 dermatomyositis ISO RGD:736306 D RGD:7794747|PMID:19953283 20140124 RGD mRNA:increased expression:skeletal muscle 2898 Il4 interleukin 4 gene DOID:10316 pneumoconiosis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21857939 2898 Il4 interleukin 4 gene DOID:10459 common cold ISO RGD:10796 D RGD:4140459|PMID:20644177 20110308 RGD associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion 2898 Il4 interleukin 4 gene DOID:10652 Alzheimer's disease ISO RGD:736306 D RGD:10402788|PMID:20213229 20151029 RGD DNA:polymorphisms:promoter 2898 Il4 interleukin 4 gene DOID:10952 nephritis IEP D RGD:5128564|PMID:7967345 20110308 RGD 2898 Il4 interleukin 4 gene DOID:11168 anogenital venereal wart ISO RGD:736306 D RGD:40400714|PMID:23754510 20201103 RGD protein:increased expression:peripheral blood mononuclear cells (human) 2898 Il4 interleukin 4 gene DOID:11168 anogenital venereal wart treatment ISO RGD:736306 D RGD:7829774|PMID:16114559 20140124 RGD 2898 Il4 interleukin 4 gene DOID:1184 nephrotic syndrome treatment IEP D RGD:10402803|PMID:24812565 20151029 RGD 2898 Il4 interleukin 4 gene DOID:1205 allergic disease ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 2898 Il4 interleukin 4 gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:7829828|PMID:20442198 20140128 RGD 2898 Il4 interleukin 4 gene DOID:12306 vitiligo ISO RGD:736306 D RGD:8663475|PMID:22342018 20140703 RGD protein:increased expression:serum: 2898 Il4 interleukin 4 gene DOID:12361 Graves' disease ISO RGD:736306 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 2898 Il4 interleukin 4 gene DOID:12849 autistic disorder ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 2898 Il4 interleukin 4 gene DOID:12894 Sjogren's syndrome ISS RGD:10796 D RGD:13592920 20180518 MouseDO OMIM:270150 2898 Il4 interleukin 4 gene DOID:13001 carotid stenosis treatment IEP D RGD:7829829|PMID:20498142 20140128 RGD 2898 Il4 interleukin 4 gene DOID:13241 Behcet's disease ISO RGD:736306 D RGD:5147902|PMID:21640045 20110826 RGD DNA:polymorphisms:promoter:-33T>C (human) 2898 Il4 interleukin 4 gene DOID:13375 temporal arteritis ISO RGD:736306 D RGD:7829811|PMID:15570643 20140124 RGD DNA:SNP, haplotype: :rs2227284 (human) 2898 Il4 interleukin 4 gene DOID:13378 Kawasaki disease treatment ISO RGD:10796 D RGD:7829825|PMID:22367425 20140128 RGD 2898 Il4 interleukin 4 gene DOID:13580 cholestasis IEP D RGD:2317270|PMID:20031157 20100324 RGD 2898 Il4 interleukin 4 gene DOID:1459 hypothyroidism treatment IEP D RGD:38549578|PMID:29896255 20200902 RGD 2898 Il4 interleukin 4 gene DOID:1495 cystic echinococcosis treatment ISO RGD:736306 D RGD:14696685|PMID:25726962 20190712 RGD 2898 Il4 interleukin 4 gene DOID:1532 pleural disease ISO RGD:736306 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 2898 Il4 interleukin 4 gene DOID:1561 cognitive disorder treatment IEP D RGD:10402800|PMID:24713401 20151029 RGD associated with Radiation Injuries, Experimental 2898 Il4 interleukin 4 gene DOID:1679 cystitis IEP D RGD:2317284|PMID:18848347 20100325 RGD protein:increased expression:urine 2898 Il4 interleukin 4 gene DOID:1790 malignant mesothelioma ISO RGD:736306 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2898 Il4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:10796 D RGD:2317267|PMID:10404069 20100324 RGD 2898 Il4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:736306 D RGD:2317265|PMID:12097255 20100324 RGD 2898 Il4 interleukin 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736306 D RGD:2317261|PMID:19957810 20100324 RGD protein:increased expression:blood 2898 Il4 interleukin 4 gene DOID:1883 hepatitis C ISO RGD:736306 D RGD:14696680|PMID:28368861 20190711 RGD protein:decreased expression:serum 2898 Il4 interleukin 4 gene DOID:1883 hepatitis C susceptibility ISO RGD:736306 D RGD:14696680|PMID:28368861 20190711 RGD DNA:SNP:promoter:-589C>T (human) 2898 Il4 interleukin 4 gene DOID:1926 Gaucher's disease ISO RGD:10796 D RGD:5128511|PMID:21223590 20110307 RGD protein:increased expression:lung 2898 Il4 interleukin 4 gene DOID:2043 hepatitis B treatment ISO RGD:736306 D RGD:14696676|PMID:28051794 20190711 RGD DNA:SNPs: :rs2243250,rs2227284(human) 2898 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2898 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:14696683|PMID:30034292 20190712 RGD protein:increased expression:serum: 2898 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:736306 D RGD:14696677|PMID:26735262 20190711 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) 2898 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:10796 D RGD:14696683|PMID:30034292 20190712 RGD 2898 Il4 interleukin 4 gene DOID:2377 multiple sclerosis onset ISO RGD:736306 D RGD:1358745|PMID:9184650 19990101 RGD DNA:repeat:intron 3:allele B1 (human) 2898 Il4 interleukin 4 gene DOID:2723 dermatitis ISO RGD:736306 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 2898 Il4 interleukin 4 gene DOID:2772 irritant dermatitis IEP D RGD:2317271|PMID:19690449 20100324 RGD 2898 Il4 interleukin 4 gene DOID:2773 contact dermatitis treatment ISO RGD:10796 D RGD:7829776|PMID:12188032 20140124 RGD 2898 Il4 interleukin 4 gene DOID:2799 bronchiolitis obliterans IEP D RGD:2317286|PMID:18557728 20100325 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:2841 asthma IEP D RGD:2317290|PMID:18211752 20100325 RGD protein:increased expression:lung 2898 Il4 interleukin 4 gene DOID:2841 asthma IEP D RGD:5128500|PMID:21364926 20110304 RGD mRNA:increased expression:lung, spleen 2898 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:5128502|PMID:21354484 20110304 RGD protein:increased expression:respiratory system fluid/secretion 2898 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:5128557|PMID:21375458 20110308 RGD 2898 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:10402791|PMID:24450480 20151029 RGD mRNA, protein:increase expression:leukocyte, serum 2898 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 2898 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:4889866|PMID:21103062 20110308 RGD DNA:polymorphism (human) 2898 Il4 interleukin 4 gene DOID:2841 asthma no_association ISO RGD:736306 D RGD:5128560|PMID:20524005 20110308 RGD DNA:SNP: :589C>T (human) 2898 Il4 interleukin 4 gene DOID:2841 asthma treatment IEP D RGD:10402799|PMID:24946644 20151029 RGD 2898 Il4 interleukin 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:10796 D RGD:5128550|PMID:20832364 20110308 RGD 2898 Il4 interleukin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12484431|PMID:21804303 2898 Il4 interleukin 4 gene DOID:3070 high grade glioma treatment ISO RGD:10796 D RGD:8142389|PMID:9973213 20140131 RGD 2898 Il4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:12230500|PMID:18249437 2898 Il4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:7829786|PMID:9643293 20140124 RGD DNA:SNP:promoter:-590C>T (human) 2898 Il4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:7829795|PMID:8363440 20140124 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:3525 middle cerebral artery infarction IEP D RGD:7204480|PMID:23028794 20140128 RGD protein:increased expression:cerebral cortex 2898 Il4 interleukin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736306 D RGD:2317264|PMID:17942922 20100324 RGD 2898 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:5128548|PMID:20861649 20110308 RGD associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung 2898 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:5128555|PMID:20490462 20110308 RGD associated with Silicosis;protein:increased expression:respiratory system fluid/secretion 2898 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12574379|PMID:15322207 2898 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:10402793|PMID:24269241 20151029 RGD 2898 Il4 interleukin 4 gene DOID:417 autoimmune disease ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7871386|PMID:8898950|PMID:19077085 2898 Il4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:5684371|PMID:9034992 20140128 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:7829819|PMID:10473513 20140128 RGD mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma 2898 Il4 interleukin 4 gene DOID:4481 allergic rhinitis treatment IEP D RGD:11522769|PMID:24620662 20160817 RGD 2898 Il4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:736306 D RGD:7829796|PMID:9893928 20140124 RGD 2898 Il4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:736306 D RGD:7829802|PMID:14653048 20140124 RGD 2898 Il4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:736306 D RGD:7829827|PMID:8908280 20140128 RGD 2898 Il4 interleukin 4 gene DOID:4483 rhinitis IEP D RGD:2317285|PMID:18826099 20100325 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:10796 D RGD:5128558|PMID:21208219 20110308 RGD mRNA:increased expression:nasal cavity epithelium 2898 Il4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19672097 2898 Il4 interleukin 4 gene DOID:4780 anti-basement membrane glomerulonephritis IDA D RGD:2307059|PMID:17898087 20100325 RGD 2898 Il4 interleukin 4 gene DOID:4780 anti-basement membrane glomerulonephritis IMP D RGD:2317673|PMID:9350645 20100415 RGD 2898 Il4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2898 Il4 interleukin 4 gene DOID:630 genetic disease ISO RGD:736306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2898 Il4 interleukin 4 gene DOID:6432 pulmonary hypertension ISO RGD:10796 D RGD:5128515|PMID:20889544 20110307 RGD 2898 Il4 interleukin 4 gene DOID:7188 autoimmune thyroiditis IMP D RGD:8142396|PMID:9892610 20140131 RGD 2898 Il4 interleukin 4 gene DOID:8536 herpes zoster ISO RGD:736306 D RGD:8663478|PMID:21954956 20140703 RGD protein:decreased expression:: 2898 Il4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19169254 2898 Il4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:7829812|PMID:15039646 20140124 RGD protein:increased expression:plasma 2898 Il4 interleukin 4 gene DOID:8893 psoriasis treatment ISO RGD:10796 D RGD:7829826|PMID:19729876 20140128 RGD 2898 Il4 interleukin 4 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:736306 D RGD:11041894|PMID:25051072 20160401 RGD DNA:repeat:intron 2898 Il4 interleukin 4 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5128562|PMID:20623539 20110308 RGD 2898 Il4 interleukin 4 gene DOID:9000197 Edema treatment ISO RGD:736306 D RGD:10402790|PMID:23972727 20151029 RGD associated with Inflammation 2898 Il4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:10796 D RGD:7829775|PMID:10486156 20140124 RGD 2898 Il4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24286936 2898 Il4 interleukin 4 gene DOID:9000998 Brain Injuries IEP D RGD:10402802|PMID:24519543 20151029 RGD protein:decreased expression:plasma 2898 Il4 interleukin 4 gene DOID:9001011 Bovine Tuberculosis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17387165 2898 Il4 interleukin 4 gene DOID:9001488 Human Influenza ISO RGD:10796 D RGD:5128546|PMID:21092162 20110308 RGD 2898 Il4 interleukin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10796 D RGD:39939037|PMID:28465467 20201022 RGD protein:decreased expression:serum (mouse) 2898 Il4 interleukin 4 gene DOID:9001708 Hemorrhagic Shock treatment IEP D RGD:10402801|PMID:24986445 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9001981 Weight Loss ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24314293 2898 Il4 interleukin 4 gene DOID:9002019 Granuloma treatment IDA D RGD:10402806|PMID:24372369 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis IDA D RGD:2317291|PMID:18182309 20100325 RGD 2898 Il4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:736306 D RGD:10402787|PMID:24406619 20151029 RGD DNA:repeat:intron: (rs8179190) (human) 2898 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis IMP D RGD:2317300|PMID:16869003 20100325 RGD 2898 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10444273 2898 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:7193038|PMID:23140046 20140131 RGD 2898 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:736306 D RGD:10402790|PMID:23972727 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:8142395|PMID:1383385 20140131 RGD 2898 Il4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10796 D RGD:7829778|PMID:18239607 20140124 RGD 2898 Il4 interleukin 4 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12755381|PMID:20485159|PMID:22967010 2898 Il4 interleukin 4 gene DOID:9002992 Nematode Infections IEP D RGD:2317296|PMID:17570971 20100325 RGD mRNA:increased expression:spleen 2898 Il4 interleukin 4 gene DOID:9003157 Respiratory Sounds ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18410779 2898 Il4 interleukin 4 gene DOID:9003507 Premature Birth ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 2898 Il4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:5128559|PMID:21171297 20110308 RGD 2898 Il4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:7829817|PMID:9237816 20140128 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:736306 D RGD:7829804|PMID:15329007 20140124 RGD 2898 Il4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736306 D RGD:14696686|PMID:23591975 20190712 RGD associated with factor VIII deficiency;protein:increased expression:serum: 2898 Il4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:14696678|PMID:22594992 20190711 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) 2898 Il4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:38456002|PMID:25708446 20200810 RGD 2898 Il4 interleukin 4 gene DOID:9004203 Chromosome Breakage ISO RGD:736306 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 2898 Il4 interleukin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736306 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2898 Il4 interleukin 4 gene DOID:9004484 Sepsis ISO RGD:736306 D RGD:38455982|PMID:25403265 20200806 RGD protein:increased expression:plasma 2898 Il4 interleukin 4 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:10402798|PMID:24681349 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736306 D RGD:10402786|PMID:20219689 20151029 RGD DNA:SNPs:promoter, 5' utr, intron:multiple 2898 Il4 interleukin 4 gene DOID:9005236 Drug Eruptions ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 2898 Il4 interleukin 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10402795|PMID:25191525 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9005941 Rhinosinusitis treatment ISO RGD:736306 D RGD:7829803|PMID:12787306 20140124 RGD associated with Asthma 2898 Il4 interleukin 4 gene DOID:9006511 Xerostomia ISO RGD:10796 D RGD:7829771|PMID:16413168 20140124 RGD 2898 Il4 interleukin 4 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression IEP D RGD:8662946|PMID:7803357 20160817 RGD mRNA:increased expression:uvea: 2898 Il4 interleukin 4 gene DOID:9006741 Acute Hepatitis IDA D RGD:8142397|PMID:9367542 20140131 RGD 2898 Il4 interleukin 4 gene DOID:9006827 Lung Reperfusion Injury treatment IDA D RGD:10402797|PMID:24365768 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2898 Il4 interleukin 4 gene DOID:9007096 Stroke ISO RGD:736306 D RGD:156430320|PMID:31465536 20230224 RGD mRNA:increased expression:lymphocyte 2898 Il4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:10796 D RGD:10402796|PMID:24468678 20151029 RGD mRNA:increased expression:lung, intestine, spleen 2898 Il4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:736306 D RGD:14696684|PMID:28095662 20190712 RGD associated with cystic echinococcosis; protein:increased expression:blood 2898 Il4 interleukin 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736306 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21094227|PMID:21735453|PMID:22107450 2898 Il4 interleukin 4 gene DOID:9007558 Acute Experimental Pancreatitis treatment IEP D RGD:10402805|PMID:24876883 20151029 RGD 2898 Il4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:7829817|PMID:9237816 20140128 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:8662960|PMID:7551298 20140630 RGD mRNA:increased expression:nose: 2898 Il4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:736306 D RGD:14696675|PMID:26281177 20190711 RGD DNA:SNP:promoter:-590C>T (human) 2898 Il4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736306 D RGD:14696697|PMID:21331994 20190716 RGD 2898 Il4 interleukin 4 gene DOID:9008366 Meningococcal Infections susceptibility ISO RGD:736306 D RGD:14696700|PMID:20016407 20190716 RGD DNA:SNP:promoter:-524C>T(human) 2898 Il4 interleukin 4 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736306 D RGD:5128554|PMID:20573437 20110308 RGD associated with Asthma 2898 Il4 interleukin 4 gene DOID:9008821 Otitis Media with Effusion IEP D RGD:2317282|PMID:18975780 20100325 RGD protein:increased expression:middle ear 2898 Il4 interleukin 4 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:736306 D RGD:7829791|PMID:18422436 20140124 RGD DNA:SNP:promoter:-542C>T (human) 2898 Il4 interleukin 4 gene DOID:9065 leishmaniasis ISO RGD:736306 D RGD:7829781|PMID:2145107 20140124 RGD protein:increased expression:serum 2898 Il4 interleukin 4 gene DOID:9065 leishmaniasis treatment ISO RGD:10796 D RGD:7829820|PMID:2521244 20140128 RGD 2898 Il4 interleukin 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 2898 Il4 interleukin 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 2898 Il4 interleukin 4 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 2898 Il4 interleukin 4 gene DOID:9744 type 1 diabetes mellitus ISS RGD:10796 D RGD:13592920 20180518 MouseDO OMIM:222100 2898 Il4 interleukin 4 gene DOID:9790 toxocariasis treatment ISO RGD:736306 D RGD:11534298|PMID:26732352 20190711 RGD 2899 Il4r interleukin 4 receptor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:735615 D RGD:1358313|PMID:11164908 20150320 RGD DNA:missense mutation:cds:p.Q551R (human) 2899 Il4r interleukin 4 receptor gene DOID:0060500 drug allergy ISO RGD:10798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2899 Il4r interleukin 4 receptor gene DOID:0080600 COVID-19 ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2899 Il4r interleukin 4 receptor gene DOID:10533 viral pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2899 Il4r interleukin 4 receptor gene DOID:11204 allergic conjunctivitis susceptibility ISO RGD:735615 D RGD:4890389|PMID:20002627 20101216 RGD associated with rhinitis; DNA:SNP: : rs2107356 (human) 2899 Il4r interleukin 4 receptor gene DOID:11963 esophagitis susceptibility ISO RGD:735615 D RGD:5131286|PMID:20811626 20101230 RGD associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human) 2899 Il4r interleukin 4 receptor gene DOID:12053 cryptococcosis ISO RGD:10798 D RGD:4890005|PMID:18954266 20101213 RGD 2899 Il4r interleukin 4 receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735615 D RGD:2317669|PMID:18758789 20100415 RGD protein:increased expression:pancreas 2899 Il4r interleukin 4 receptor gene DOID:2377 multiple sclerosis ISO RGD:735615 D RGD:4890395|PMID:14712310 20101216 RGD 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:4890003|PMID:19770271 20101213 RGD DNA:mutation:cds:p.Q576R (mouse) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:5128514|PMID:20953944 20110307 RGD 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:5128553|PMID:20605987 20110308 RGD 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:4890351|PMID:15479272 20101215 RGD protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:4890352|PMID:16917945 20101215 RGD 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:4890406|PMID:11398072 20101216 RGD 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma ISS RGD:10798 D RGD:13592920 20180518 MouseDO OMIM:600807 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma disease_progression ISO RGD:735615 D RGD:4890349|PMID:17170387 20101215 RGD DNA:SNPs:cds:p.E375A, Q551R (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma severity ISO RGD:735615 D RGD:4890346|PMID:18425216 20101215 RGD DNA:polymorphism:cds:p.I50V (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:4890024|PMID:11709756 20101214 RGD DNA:polymorphism:cds:p. S478P (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:4890347|PMID:17823973 20101215 RGD DNA:SNPs: :multiple 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:4890348|PMID:17586032 20101215 RGD DNA:polymorphism:cds:p.Q551R (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:4890387|PMID:20868478 20101216 RGD DNA:polymorphism::-1902G/A (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:4890402|PMID:12940513 20101216 RGD DNA:polymorphism:cds:p.Q576R (human) 2899 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:4890404|PMID:12133990 20101216 RGD DNA:SNPs:cds:p. I75V, Q576R (human) 2899 Il4r interleukin 4 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:735615 D RGD:5128510|PMID:21251883 20130118 RGD protein:decreased expression:serum 2899 Il4r interleukin 4 receptor gene DOID:3082 interstitial lung disease ISO RGD:735615 D RGD:4890021|PMID:15161635 20101214 RGD Idiopathic Interstitial Pneumonias 2899 Il4r interleukin 4 receptor gene DOID:3261 hyper IgE recurrent infection syndrome 1 no_association ISO RGD:735615 D RGD:11530003|PMID:9537881 20160818 RGD DNA:mutation:cds:p.Q576R(human) 2899 Il4r interleukin 4 receptor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735615 D RGD:11530001|PMID:9392697 20160818 RGD DNA:mutation:cds:p.Q576R(human) 2899 Il4r interleukin 4 receptor gene DOID:350 mastocytosis ISO RGD:10798 D RGD:7829822|PMID:23149659 20140128 RGD 2899 Il4r interleukin 4 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735615 D RGD:2317264|PMID:17942922 20100415 RGD protein:increased expression:pancreas 2899 Il4r interleukin 4 receptor gene DOID:4450 renal cell carcinoma ISO RGD:735615 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:22317767|PMID:30472377 2899 Il4r interleukin 4 receptor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735615 D RGD:7207070|PMID:12171893 20130118 RGD DNA:polymorphism:cds:p.I50V (human) 2899 Il4r interleukin 4 receptor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735615 D RGD:7207066|PMID:22317767 20130118 RGD DNA:polymorphism:cds:p.I50V (human) 2899 Il4r interleukin 4 receptor gene DOID:4483 rhinitis ISO RGD:735615 D RGD:4890394|PMID:15564773 20101216 RGD DNA:polymorphism: :c.1432T>C (human) 2899 Il4r interleukin 4 receptor gene DOID:4947 cholangiocarcinoma ISO RGD:735615 D RGD:2317263|PMID:18798553 20100415 RGD mRNA:increased expression:bile duct 2899 Il4r interleukin 4 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735615 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 2899 Il4r interleukin 4 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735615 D RGD:7240710 20230517 OMIM 2899 Il4r interleukin 4 receptor gene DOID:552 pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2899 Il4r interleukin 4 receptor gene DOID:5844 myocardial infarction IEP D RGD:4889985|PMID:10807530 20101210 RGD mRNA:increased expression:heart 2899 Il4r interleukin 4 receptor gene DOID:630 genetic disease ISO RGD:735615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2899 Il4r interleukin 4 receptor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:735615 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:9620765 2899 Il4r interleukin 4 receptor gene DOID:6543 acne ISO RGD:735615 D RGD:7829779|PMID:22705603 20140124 RGD DNA:polymorphism: :p.Q551R (human) 2899 Il4r interleukin 4 receptor gene DOID:7148 rheumatoid arthritis severity ISO RGD:735615 D RGD:10402783|PMID:24782180 20151029 RGD DNA:SNP: :rs1805010 (human) 2899 Il4r interleukin 4 receptor gene DOID:8398 osteoarthritis ISO RGD:735615 D RGD:10402785|PMID:16647277 20151029 RGD protein:increased expression:serum 2899 Il4r interleukin 4 receptor gene DOID:850 lung disease ISO RGD:10798 D RGD:4889995|PMID:20861354 20101213 RGD associated with respiratory syncytial virus infection 2899 Il4r interleukin 4 receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735615 D RGD:2317263|PMID:18798553 20100415 RGD mRNA:increased expression:gallbladder 2899 Il4r interleukin 4 receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5128562|PMID:20623539 20110308 RGD mRNA:increased expression:spinal cord 2899 Il4r interleukin 4 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735615 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30472377 2899 Il4r interleukin 4 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10798 D RGD:4890011|PMID:16890766 20101213 RGD 2899 Il4r interleukin 4 receptor gene DOID:9001733 Tinnitus ISO RGD:735615 D RGD:7829784|PMID:16280132 20140124 RGD associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) 2899 Il4r interleukin 4 receptor gene DOID:9002669 Hypoxia ISO RGD:10798 D RGD:4890390|PMID:19380795 20101216 RGD 2899 Il4r interleukin 4 receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 2899 Il4r interleukin 4 receptor gene DOID:9003817 Sudden Hearing Loss ISO RGD:735615 D RGD:7829784|PMID:16280132 20140124 RGD DNA:SNP: :p.Q576R (rs 180275) (human) 2899 Il4r interleukin 4 receptor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:735615 D RGD:5128510|PMID:21251883 20110307 RGD protein:decreased expression:serum 2899 Il4r interleukin 4 receptor gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:735615 D RGD:10402786|PMID:20219689 20151029 RGD DNA:SNPs:promoter, exons:multiple 2899 Il4r interleukin 4 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10798 D RGD:4889983|PMID:12165974 20101210 RGD 2899 Il4r interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:735615 D RGD:10402784|PMID:19036616 20151029 RGD DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human) 2899 Il4r interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:735615 D RGD:10402782|PMID:14745651 20151029 RGD DNA:SNPs:multiple 2899 Il4r interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:10798 D RGD:4889996|PMID:20404812 20101213 RGD 2899 Il4r interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:735615 D RGD:4890022|PMID:12508140 20101214 RGD associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) 2899 Il4r interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735615 D RGD:4889847|PMID:17703412 20110121 RGD DNA:SNPs: :rs1805011,rs2057768 (human) 2899 Il4r interleukin 4 receptor gene DOID:9007096 Stroke disease_progression ISO RGD:735615 D RGD:11530005|PMID:24386991 20160818 RGD 2899 Il4r interleukin 4 receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735615 D RGD:11529997|PMID:14615367 20160818 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.S503P(rs1805015)(human) 2899 Il4r interleukin 4 receptor gene DOID:9007356 Eczema ISO RGD:10798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 2899 Il4r interleukin 4 receptor gene DOID:9007356 Eczema susceptibility ISO RGD:735615 D RGD:4890389|PMID:20002627 20101216 RGD DNA:SNP: : rs2057768 (human) 2899 Il4r interleukin 4 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:4889981|PMID:19395316 20101210 RGD protein:increased expression:skeletal muscle 2899 Il4r interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 2899 Il4r interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:7240710 20230517 OMIM 2899 Il4r interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopy, resistance to | ClinVar Annotator: match by term: Atopy, susceptibility to | ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:10233717|PMID:10905893|PMID:11709756|PMID:15173254|PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:25741868|PMID:28492532|PMID:9392697|PMID:9515586|PMID:9537881|PMID:9620765 2899 Il4r interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment IMP D RGD:11530017|PMID:12297806 20160819 RGD 2899 Il4r interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:10798 D RGD:11530017|PMID:12297806 20160819 RGD 2899 Il4r interleukin 4 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:735615 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11918534 2899 Il4r interleukin 4 receptor gene DOID:9538 multiple myeloma susceptibility ISO RGD:735615 D RGD:11040938|PMID:17315188 20160818 RGD DNA:SNP: :-228120T>C(rs2107356)(human) 2899 Il4r interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:5128510|PMID:21251883 20130118 RGD protein:decreased expression:serum 2899 Il4r interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:7207069|PMID:19548368 20130118 RGD DNA:polymorphism:cds:p.I50V (human) 2900 Il5 interleukin 5 gene DOID:0050256 angiostrongyliasis ISO RGD:10799 D RGD:11354948|PMID:8361777 20160729 RGD 2900 Il5 interleukin 5 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:730927 D RGD:11354942|PMID:16425276 20160729 RGD protein:increased expression:serum 2900 Il5 interleukin 5 gene DOID:0050589 inflammatory bowel disease susceptibility ISO RGD:10799 D RGD:5687148|PMID:22018693 20120201 RGD 2900 Il5 interleukin 5 gene DOID:0060180 colitis ISO RGD:10799 D RGD:5687148|PMID:22018693 20120202 RGD protein: increased expression 2900 Il5 interleukin 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2900 Il5 interleukin 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10799 D RGD:4891446|PMID:19906920 20200617 RGD 2900 Il5 interleukin 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10799 D RGD:7241068|PMID:15368290 20130225 RGD 2900 Il5 interleukin 5 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730927 D RGD:11354912|PMID:21911837 20160728 RGD protein:increased expression:serum 2900 Il5 interleukin 5 gene DOID:10534 stomach cancer susceptibility ISO RGD:730927 D RGD:151347690|PMID:18687755 20220201 RGD DNA:SNP::745 C>T (rs2069812)(human) 2900 Il5 interleukin 5 gene DOID:10923 sickle cell anemia ISO RGD:10799 D RGD:11354938|PMID:25843670 20160729 RGD protein:increased expression:respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:10955 strongyloidiasis severity ISO RGD:10799 D RGD:11354934|PMID:9824515 20160729 RGD 2900 Il5 interleukin 5 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730927 D RGD:11354946|PMID:16787590 20160729 RGD protein:increased expression:serum 2900 Il5 interleukin 5 gene DOID:11132 prostatic hypertrophy treatment IEP D RGD:5684375|PMID:20945403 20160808 RGD 2900 Il5 interleukin 5 gene DOID:1184 nephrotic syndrome ISO RGD:730927 D RGD:7240715|PMID:22665336 20130219 RGD 2900 Il5 interleukin 5 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:10799 D RGD:11354937|PMID:25410867 20160729 RGD 2900 Il5 interleukin 5 gene DOID:12849 autistic disorder ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 2900 Il5 interleukin 5 gene DOID:13922 eosinophilic esophagitis ISO RGD:10799 D RGD:11354947|PMID:23161496 20160729 RGD 2900 Il5 interleukin 5 gene DOID:1394 urinary schistosomiasis resistance ISO RGD:730927 D RGD:7241010|PMID:9697734 20130220 RGD 2900 Il5 interleukin 5 gene DOID:13976 peptic esophagitis IEP D RGD:2307110|PMID:18222984 20101222 RGD associated with asthma; mRNA:increased expression:esophagus 2900 Il5 interleukin 5 gene DOID:1470 major depressive disorder ISO RGD:730927 D RGD:5687135|PMID:22230487 20120201 RGD protein: increased expression: serum 2900 Il5 interleukin 5 gene DOID:1496 echinococcosis ISO RGD:10799 D RGD:5687176|PMID:21912714 20120203 RGD mRNA: increased expression: : peritoneal lavage cells 2900 Il5 interleukin 5 gene DOID:2048 autoimmune hepatitis ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2900 Il5 interleukin 5 gene DOID:2841 asthma IDA D RGD:4145461|PMID:17074272 20101222 RGD 2900 Il5 interleukin 5 gene DOID:2841 asthma IMP D RGD:4890938|PMID:19947994 20101222 RGD 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:4890947|PMID:15626484 20101222 RGD protein:increased expression:respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:4890963|PMID:9182686 20101222 RGD 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:5687144|PMID:22085848 20120201 RGD protein:increased expression:lungs, respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:5687189|PMID:11159041 20120203 RGD 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7540862|PMID:23266719 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:4890940|PMID:18629290 20101222 RGD DNA:polymorphism:promoter:-703C>T (human) 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:4890948|PMID:15502111 20101222 RGD 2900 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:5687140|PMID:22186238 20120201 RGD protein: increased levels: sputum 2900 Il5 interleukin 5 gene DOID:2841 asthma disease_progression ISO RGD:730927 D RGD:4890962|PMID:9493449 20101222 RGD 2900 Il5 interleukin 5 gene DOID:2841 asthma treatment IEP D RGD:11354973|PMID:25008888 20160801 RGD 2900 Il5 interleukin 5 gene DOID:3042 allergic contact dermatitis ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 2900 Il5 interleukin 5 gene DOID:3044 food allergy ISO RGD:730927 D RGD:5687145|PMID:22077487 20120201 RGD 2900 Il5 interleukin 5 gene DOID:3049 Churg-Strauss syndrome severity ISO RGD:730927 D RGD:6892720|PMID:22772323 20160728 RGD 2900 Il5 interleukin 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730927 D RGD:4890939|PMID:20858153 20101222 RGD protein:increased expression:serum 2900 Il5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:18249437|PMID:33274957 2900 Il5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:5687175|PMID:22299064 20120203 RGD mRNA: increased expression: skin 2900 Il5 interleukin 5 gene DOID:3525 middle cerebral artery infarction IEP D RGD:7204480|PMID:23028794 20160808 RGD 2900 Il5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:4890942|PMID:17986108 20101222 RGD mRNA:increased expression:lung 2900 Il5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:4890954|PMID:14975941 20101222 RGD 2900 Il5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 2900 Il5 interleukin 5 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:730927 D RGD:11354940|PMID:8608886 20160729 RGD protein:increased expression:intestine, eosinophil 2900 Il5 interleukin 5 gene DOID:4481 allergic rhinitis treatment IEP D RGD:11354976|PMID:23934070 20160801 RGD 2900 Il5 interleukin 5 gene DOID:4481 allergic rhinitis treatment IEP D RGD:11522769|PMID:24620662 20160808 RGD 2900 Il5 interleukin 5 gene DOID:4483 rhinitis ISO RGD:10799 D RGD:5128622|PMID:11884474 20110314 RGD 2900 Il5 interleukin 5 gene DOID:5041 esophageal cancer treatment IEP D RGD:5134997|PMID:20232121 20160801 RGD 2900 Il5 interleukin 5 gene DOID:630 genetic disease ISO RGD:730927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2900 Il5 interleukin 5 gene DOID:7148 rheumatoid arthritis ISO RGD:730927 D RGD:5687156|PMID:22293286 20120202 RGD 2900 Il5 interleukin 5 gene DOID:8398 osteoarthritis ISO RGD:730927 D RGD:5687147|PMID:22035391 20120201 RGD 2900 Il5 interleukin 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:10799 D RGD:4889106|PMID:19151189 20101124 RGD protein:increased expression:lung,respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10799 D RGD:4890961|PMID:9712797 20101222 RGD 2900 Il5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity treatment ISO RGD:10799 D RGD:11354935|PMID:10471622 20160729 RGD 2900 Il5 interleukin 5 gene DOID:9000998 Brain Injuries IEP D RGD:11522766|PMID:24602693 20160808 RGD 2900 Il5 interleukin 5 gene DOID:9000998 Brain Injuries treatment IEP D RGD:11522770|PMID:24530657 20160808 RGD 2900 Il5 interleukin 5 gene DOID:9001371 Eosinophilia IEP D RGD:625643|PMID:11884473 19990101 RGD 2900 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:10799 D RGD:11354921|PMID:1988543 20160729 RGD 2900 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:11354913|PMID:14581138 20160728 RGD associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human) 2900 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1988543|PMID:11006010 2900 Il5 interleukin 5 gene DOID:9001371 Eosinophilia severity ISO RGD:730927 D RGD:11354898|PMID:18395252 20160728 RGD associated with Lymphoma, T-Cell 2900 Il5 interleukin 5 gene DOID:9001371 Eosinophilia treatment ISO RGD:10799 D RGD:11354933|PMID:1699772 20160729 RGD associated with Toxocariasis 2900 Il5 interleukin 5 gene DOID:9002892 Parasitic Intestinal Diseases ISO RGD:730927 D RGD:11354941|PMID:15534922 20160729 RGD 2900 Il5 interleukin 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730927 D RGD:5687140|PMID:22186238 20120201 RGD protein: increased levels: sputum 2900 Il5 interleukin 5 gene DOID:9004283 Transplant Rejection treatment IDA D RGD:11354977|PMID:11267027 20160801 RGD 2900 Il5 interleukin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730927 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2900 Il5 interleukin 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:730927 D RGD:5687156|PMID:22293286 20120202 RGD 2900 Il5 interleukin 5 gene DOID:9006647 Experimental Autoimmune Neuritis treatment IDA D RGD:11522768|PMID:22310911 20160808 RGD 2900 Il5 interleukin 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2900 Il5 interleukin 5 gene DOID:9007073 Cough treatment ISO RGD:730927 D RGD:10449525|PMID:9525446 20160801 RGD 2900 Il5 interleukin 5 gene DOID:9008865 Entamoebiasis ISO RGD:730927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 2900 Il5 interleukin 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:730927 D RGD:7241039|PMID:23054011 20130225 RGD 2900 Il5 interleukin 5 gene DOID:9362 status asthmaticus ISO RGD:730927 D RGD:4890960|PMID:10934091 20101222 RGD protein:increased expression:respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:4890941|PMID:18519743 20101222 RGD associated with respiratory syncytial virus infection 2900 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:4890961|PMID:9712797 20101222 RGD 2900 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:11354949|PMID:17597386 20160729 RGD associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:4890956|PMID:12765419 20101222 RGD protein:increased expression:respiratory system fluid/secretion 2900 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:10799 D RGD:11354935|PMID:10471622 20160729 RGD 2901 Il6 interleukin 6 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10802 D RGD:40818252|PMID:21887255 20201115 RGD protein:increased expression:lung,natural killer cell (mouse) 2901 Il6 interleukin 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1352582 D RGD:11060275|PMID:10374863 20160420 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1352582 D RGD:11554173 20180529 CTD CTD Direct Evidence: marker/mechanism 2901 Il6 interleukin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1352582 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Crohn disease-associated growth failure, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 2901 Il6 interleukin 6 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1352582 D RGD:2317165|PMID:18159174 20100317 RGD 2901 Il6 interleukin 6 gene DOID:0050685 small cell carcinoma disease_progression ISO RGD:1352582 D RGD:4143263|PMID:20592377 20100921 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:12791291|PMID:25011638 20170306 RGD associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: 2901 Il6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:12792243|PMID:25687566 20170313 RGD protein:increased expression: cervicovaginal fluid : 2901 Il6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:5128667|PMID:15547537 20110315 RGD protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:0050700 cardiomyopathy ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 2901 Il6 interleukin 6 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352582 D RGD:4143251|PMID:20668869 20100921 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1352582 D RGD:9589120|PMID:24625449 20141107 RGD 2901 Il6 interleukin 6 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352582 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 2901 Il6 interleukin 6 gene DOID:0060180 colitis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22410118|PMID:24548422 2901 Il6 interleukin 6 gene DOID:0060496 respiratory allergy ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 2901 Il6 interleukin 6 gene DOID:0060688 arteriovenous malformations of the brain susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 2901 Il6 interleukin 6 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1352582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 2901 Il6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1352582 D RGD:11049165|PMID:19573080 20160405 RGD DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) 2901 Il6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma no_association ISO RGD:1352582 D RGD:11049165|PMID:19573080 20160405 RGD DNA:SNPs: :multiple 2901 Il6 interleukin 6 gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:127284843|PMID:29229353 20210609 RGD 2901 Il6 interleukin 6 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352582 D RGD:14975293|PMID:27730688 20191004 RGD DNA:SNPs:promoter:rs10499563, rs1800795 (human) 2901 Il6 interleukin 6 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352582 D RGD:7829808|PMID:18510618 20140124 RGD mRNA,protein:increased expression:liver,plasma 2901 Il6 interleukin 6 gene DOID:0080333 aortic valve disease 1 severity ISO RGD:1352582 D RGD:12792206|PMID:23969418 20170309 RGD 2901 Il6 interleukin 6 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352582 D RGD:14975143|PMID:28852433 20190930 RGD DNA:SNP:promoter:-174���G/C (human) 2901 Il6 interleukin 6 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10802 D RGD:127285675|PMID:28100771 20210628 RGD 2901 Il6 interleukin 6 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10802 D RGD:4891446|PMID:19906920 20110314 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940|PMID:32171193|PMID:32534021 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:30296676|PMID:32416070 20200616 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:30296681|PMID:32345579 20200616 RGD associated with diabetes mellitus 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:30309206|PMID:32407836 20200618 RGD 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:27095965|PMID:32125452 20200520 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:27226695|PMID:32227274 20200522 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:30309200|PMID:32427582 20200618 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:30309957|PMID:32456948 20200624 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:30310230|PMID:32181911 20200624 RGD protein:increased expression:blood (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:30310238|PMID:32434211 20200624 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:32716368|PMID:32297828 20200625 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:36049814|PMID:32164089 20200721 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:30309198|PMID:30626685 20200618 RGD 2901 Il6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:30309958|PMID:30634407 20200623 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:0080743 transverse myelitis ISO RGD:1352582 D RGD:7829722|PMID:20128675 20140122 RGD protein:increased expression:serum, cerebral spinal fluid: 2901 Il6 interleukin 6 gene DOID:0080745 polymyositis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2901 Il6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:11062108|PMID:19050604 20160426 RGD protein:increased expression:plasma (rat) 2901 Il6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis treatment IDA D RGD:11062058|PMID:11780340 20160422 RGD 2901 Il6 interleukin 6 gene DOID:0111157 Castleman disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15182131 2901 Il6 interleukin 6 gene DOID:10140 dry eye syndrome susceptibility ISO RGD:1352582 D RGD:7829751|PMID:18419107 20140123 RGD associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:10247 pleurisy ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 2901 Il6 interleukin 6 gene DOID:10322 berylliosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8428540 2901 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:126908003|PMID:31396300 20210524 RGD human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (human) 2901 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:14975253|PMID:30610790 20191003 RGD 2901 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:14975290|PMID:27049718 20191004 RGD DNA:SNP: :rs2069837 (human) 2901 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:14975291|PMID:28442395 20191004 RGD DNA:SNPs: :rs1800796, rs10499563 (human) 2901 Il6 interleukin 6 gene DOID:10534 stomach cancer no_association ISO RGD:1352582 D RGD:14975291|PMID:28442395 20191004 RGD DNA:SNPs: :rs6949149 (human) 2901 Il6 interleukin 6 gene DOID:10591 pre-eclampsia ameliorates IEP D RGD:213230155|PMID:31203154 20230323 RGD 2901 Il6 interleukin 6 gene DOID:10608 celiac disease ISO RGD:1352582 D RGD:2307292|PMID:18692934 20090526 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:10652 Alzheimer's disease treatment IDA D RGD:11062148|PMID:27088818 20160427 RGD 2901 Il6 interleukin 6 gene DOID:1073 renal hypertension IEP D RGD:6907405|PMID:22188107 20130723 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:10754 otitis media IEP D RGD:7829801|PMID:11165648 20140124 RGD mRNA,protein:increased expression:middle ear: 2901 Il6 interleukin 6 gene DOID:10754 otitis media ISO RGD:10802 D RGD:8547980|PMID:21271590 20140304 RGD mRNA,protein:increased expression:middle ear,inner ear: 2901 Il6 interleukin 6 gene DOID:10754 otitis media susceptibility ISO RGD:1352582 D RGD:7365054|PMID:17908769 20140122 RGD DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 2901 Il6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:2307283|PMID:19043252 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:10763 hypertension susceptibility ISO RGD:1352582 D RGD:1580485|PMID:12846758 19990101 RGD associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) 2901 Il6 interleukin 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1352582 D RGD:7829793|PMID:22490043 20140124 RGD protein:increased expression:aqueous humor: 2901 Il6 interleukin 6 gene DOID:10914 amnestic disorder ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9189931 2901 Il6 interleukin 6 gene DOID:10941 intracranial aneurysm ISO RGD:1352582 D RGD:1580488|PMID:16648144 19990101 RGD 2901 Il6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:7364848|PMID:21311206 20140128 RGD associated with Otitis Media;protein:increased expression:ear: 2901 Il6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:7829727|PMID:8652157 20140123 RGD protein:increased expression:ear: 2901 Il6 interleukin 6 gene DOID:11168 anogenital venereal wart ISO RGD:1352582 D RGD:40400714|PMID:23754510 20201103 RGD protein:decreased expression:peripheral blood mononuclear cells (human) 2901 Il6 interleukin 6 gene DOID:1123 spondyloarthropathy ISO RGD:1352582 D RGD:7829742|PMID:9489833 20140123 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation IEP D RGD:11062099|PMID:16932226 20160426 RGD protein:increased expression:plasma (rat) 2901 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1352582 D RGD:11049462|PMID:16613997 20160406 RGD protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1352582 D RGD:10450536|PMID:16518755 20160115 RGD associated with Hemorrhagic Fever, Crimean 2901 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation treatment IDA D RGD:11060278|PMID:16810104 20160420 RGD 2901 Il6 interleukin 6 gene DOID:11446 sciatic neuropathy IEP D RGD:5128675|PMID:20519054 20110315 RGD protein:increased expression:dorsal root ganglion 2901 Il6 interleukin 6 gene DOID:11476 osteoporosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 2901 Il6 interleukin 6 gene DOID:11563 retinal vasculitis ISO RGD:10802 D RGD:11039401|PMID:19834028 20160302 RGD 2901 Il6 interleukin 6 gene DOID:11714 gestational diabetes ISO RGD:1352582 D RGD:2307186|PMID:19408175 20090520 RGD protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:11716 prediabetes syndrome ISO RGD:1352582 D RGD:2307180|PMID:19442860 20090520 RGD protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:11758 iron deficiency anemia IEP D RGD:11062011|PMID:18808386 20160421 RGD associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) 2901 Il6 interleukin 6 gene DOID:1205 allergic disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2901 Il6 interleukin 6 gene DOID:12157 aseptic meningitis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10888991 2901 Il6 interleukin 6 gene DOID:12241 beta thalassemia ISO RGD:1352582 D RGD:11041617|PMID:23905873 20160324 RGD protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 2901 Il6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:7829719|PMID:21235536 20140122 RGD DNA:polymorphism:promoter:-572C>G(human) 2901 Il6 interleukin 6 gene DOID:12361 Graves' disease disease_progression ISO RGD:1352582 D RGD:7829750|PMID:12818091 20140123 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 2901 Il6 interleukin 6 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 2901 Il6 interleukin 6 gene DOID:12678 hypercalcemia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 2901 Il6 interleukin 6 gene DOID:12704 ataxia telangiectasia severity ISO RGD:1352582 D RGD:11529801|PMID:26851119 20170306 RGD 2901 Il6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1352582 D RGD:8142352|PMID:19352211 20140130 RGD associated with Otitis media;protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1352582 D RGD:4143259|PMID:20622030 20100921 RGD protein:increased expression:nasal mucus 2901 Il6 interleukin 6 gene DOID:12835 quadriplegia susceptibility ISO RGD:1352582 D RGD:12792240|PMID:23415255 20170313 RGD associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) 2901 Il6 interleukin 6 gene DOID:12849 autistic disorder ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8964908 2901 Il6 interleukin 6 gene DOID:12849 autistic disorder treatment ISO RGD:1352582 D RGD:12792236|PMID:26418275 20170313 RGD 2901 Il6 interleukin 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1352582 D RGD:10402809|PMID:11860469 20151029 RGD 2901 Il6 interleukin 6 gene DOID:1289 neurodegenerative disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12836160 2901 Il6 interleukin 6 gene DOID:12894 Sjogren's syndrome ISO RGD:1352582 D RGD:7829718|PMID:11426023 20140122 RGD protein:increased expression:plasma: 2901 Il6 interleukin 6 gene DOID:12894 Sjogren's syndrome severity ISO RGD:1352582 D RGD:7829718|PMID:11426023 20140122 RGD DNA:polymorphims:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1352582 D RGD:7829756|PMID:10487957 20140123 RGD associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: 2901 Il6 interleukin 6 gene DOID:13141 uveitis IEP D RGD:7829806|PMID:1544781 20140124 RGD protein:increased expression:eye 2901 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:7387294|PMID:15209464 20140122 RGD associated with Behcet Syndrome;protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:7829723|PMID:10420202 20140122 RGD protein:increased expression:aqueous humor: 2901 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:7829806|PMID:1544781 20140124 RGD 2901 Il6 interleukin 6 gene DOID:13197 nodular goiter ISO RGD:1352582 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 2901 Il6 interleukin 6 gene DOID:13241 Behcet's disease ISO RGD:1352582 D RGD:7829752|PMID:8164212 20140123 RGD protein:increased secretion:monocyte: 2901 Il6 interleukin 6 gene DOID:13580 cholestasis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 2901 Il6 interleukin 6 gene DOID:13593 eclampsia treatment IDA D RGD:11062145|PMID:27106269 20160427 RGD 2901 Il6 interleukin 6 gene DOID:13619 extrahepatic cholestasis ISO RGD:1352582 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 2901 Il6 interleukin 6 gene DOID:1389 polyneuropathy ISO RGD:1352582 D RGD:2307274|PMID:19131463 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 2901 Il6 interleukin 6 gene DOID:14115 toxic shock syndrome treatment ISO RGD:10802 D RGD:11060276|PMID:2124237 20160420 RGD 2901 Il6 interleukin 6 gene DOID:14330 Parkinson's disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 2901 Il6 interleukin 6 gene DOID:1470 major depressive disorder ISO RGD:1352582 D RGD:14975122|PMID:30734130 20190927 RGD associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:1474 aggressive periodontitis ISO RGD:1352582 D RGD:14975139|PMID:28662328 20190930 RGD DNA:SNP:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:4143275|PMID:20438838 20100921 RGD protein:increased expression:lung 2901 Il6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:5128672|PMID:16403491 20110315 RGD protein:increased expression:blood 2901 Il6 interleukin 6 gene DOID:1532 pleural disease ISO RGD:1352582 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 2901 Il6 interleukin 6 gene DOID:1580 diffuse scleroderma treatment ISO RGD:1352582 D RGD:12792275|PMID:20338043 20170315 RGD 2901 Il6 interleukin 6 gene DOID:1588 thrombocytopenia severity ISO RGD:735591|RGD:1344192|RGD:1352582 D RGD:11041893|PMID:25128199 20160401 RGD associated with Malaria, Vivax 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder IEP D RGD:10402829|PMID:23589140 20151030 RGD mRNA:increased expression:colon 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder IEP D RGD:11062144|PMID:27106565 20160427 RGD protein:increased expression:hippocampus (rat) 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:10802 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased expression:serum, hippocampus (mouse) 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18458677 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:126908003|PMID:31396300 20210524 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:38676480|PMID:23571152 20200921 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: 2901 Il6 interleukin 6 gene DOID:1596 depressive disorder treatment ISO RGD:1352582 D RGD:14975286|PMID:28083615 20191004 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:1612 breast cancer susceptibility ISO RGD:1352582 D RGD:7829720|PMID:17594514 20140122 RGD DNA:polymorphism::rs2069832(human) 2901 Il6 interleukin 6 gene DOID:1687 neovascular glaucoma disease_progression ISO RGD:1352582 D RGD:7829814|PMID:10509659 20140128 RGD associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor: 2901 Il6 interleukin 6 gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD 2901 Il6 interleukin 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 2901 Il6 interleukin 6 gene DOID:1790 malignant mesothelioma ISO RGD:1352582 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 2901 Il6 interleukin 6 gene DOID:1793 pancreatic cancer ISO RGD:1352582 D RGD:14975253|PMID:30610790 20191003 RGD 2901 Il6 interleukin 6 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1352582 D RGD:14975257|PMID:30304975 20191003 RGD 2901 Il6 interleukin 6 gene DOID:1826 epilepsy IEP D RGD:13524859|PMID:28303499 20180501 RGD protein:increased expression:brain,plasma 2901 Il6 interleukin 6 gene DOID:1875 impotence treatment IEP D RGD:9495931|PMID:24467772 20160119 RGD associated with Diabetes Mellitus, Type 2 2901 Il6 interleukin 6 gene DOID:1875 impotence treatment IMP D RGD:10402827|PMID:21492407 20151030 RGD 2901 Il6 interleukin 6 gene DOID:1883 hepatitis C ISO RGD:1352582 D RGD:14975144|PMID:28340949 20190930 RGD DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) 2901 Il6 interleukin 6 gene DOID:1883 hepatitis C no_association ISO RGD:1352582 D RGD:14975144|PMID:28340949 20190930 RGD DNA:SNPs: :multiple 2901 Il6 interleukin 6 gene DOID:1924 hypogonadism ISO RGD:1352582 D RGD:2317160|PMID:20221887 20100317 RGD associated with Pancreatic Neoplasms 2901 Il6 interleukin 6 gene DOID:1936 atherosclerosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 2901 Il6 interleukin 6 gene DOID:1936 atherosclerosis ameliorates ISO RGD:10802 D RGD:242905195|PMID:35854140 20230328 RGD 2901 Il6 interleukin 6 gene DOID:1993 rectum cancer treatment ISO RGD:1352582 D RGD:14975288|PMID:28272402 20191004 RGD 2901 Il6 interleukin 6 gene DOID:2018 hyperinsulinism ISO RGD:1352582 D RGD:2307250|PMID:19375766 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:2043 hepatitis B ISO RGD:1352582 D RGD:14975295|PMID:27268603 20191004 RGD DNA:SNP:promoter:-174C>G (human) 2901 Il6 interleukin 6 gene DOID:2048 autoimmune hepatitis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 2901 Il6 interleukin 6 gene DOID:2316 brain ischemia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 2901 Il6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:11041614|PMID:24357729 20160324 RGD associated with Inflammation 2901 Il6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:11060277|PMID:19265263 20160420 RGD associated with Colonic Neoplasms;protein:increased expression:serum (mouse) 2901 Il6 interleukin 6 gene DOID:2377 multiple sclerosis ISO RGD:1352582 D RGD:12792202|PMID:24155968 20170308 RGD 2901 Il6 interleukin 6 gene DOID:2377 multiple sclerosis severity ISO RGD:1352582 D RGD:12791288|PMID:23202972 20170306 RGD DNA:polymorphism:promoter:-572 G>C(human) 2901 Il6 interleukin 6 gene DOID:2377 multiple sclerosis treatment ISO RGD:1352582 D RGD:11079567|PMID:26285213 20170306 RGD DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:2513 basal cell carcinoma ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22108589 2901 Il6 interleukin 6 gene DOID:26 pancreas disease ISO RGD:10802 D RGD:2307287|PMID:18772604 20090526 RGD insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) 2901 Il6 interleukin 6 gene DOID:2797 idiopathic interstitial pneumonia IEP D RGD:11062092|PMID:10988147 20160425 RGD protein:increased expression:bronchoalveolar lavage (rat) 2901 Il6 interleukin 6 gene DOID:2799 bronchiolitis obliterans ISO RGD:10802 D RGD:4143277|PMID:20393404 20100921 RGD 2901 Il6 interleukin 6 gene DOID:2841 asthma IEP D RGD:4143271|PMID:20658762 20100921 RGD protein:increased expression:lung 2901 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:10802 D RGD:4143265|PMID:20840469 20100921 RGD 2901 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:10802 D RGD:5128630|PMID:21115736 20110314 RGD 2901 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 2901 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:4143266|PMID:20816188 20100921 RGD associated with Hypersensitivity;protein:increased expression:sputum 2901 Il6 interleukin 6 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1352582 D RGD:11049178|PMID:15718915 20160405 RGD DNA:SNP:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:2921 glomerulonephritis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9403216 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome IEP D RGD:32726073|PMID:16409721 20200701 RGD protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat) 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:32716401|PMID:15271897 20200629 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:34201108|PMID:15888207 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352582 D RGD:34888224|PMID:15472864 20200702 RGD protein:increased expression:blood (human) 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352582 D RGD:30309219|PMID:15657466 20200619 RGD protein:increased expression:serum (human) 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:10802 D RGD:32716426|PMID:32553273 20200630 RGD 2901 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352582 D RGD:33769580|PMID:15865221 20200702 RGD 2901 Il6 interleukin 6 gene DOID:2957 pulmonary tuberculosis ISO RGD:1352582 D RGD:4143257|PMID:20624776 20100921 RGD 2901 Il6 interleukin 6 gene DOID:2987 familial Mediterranean fever ISO RGD:1352582 D RGD:5686880|PMID:20518740 20120131 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21570986 2901 Il6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:5128661|PMID:18074478 20110315 RGD associated with Acute Lung Injury;protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:28864214|PMID:29329563|PMID:31349846 2901 Il6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:4143243|PMID:20819268 20100921 RGD protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:3087 gingivitis ISO RGD:1352582 D RGD:2307265|PMID:19186972 20090526 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:319 spinal cord disease ISO RGD:1352582 D RGD:14975119|PMID:30327453 20190926 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:3229 gastric dilatation ISO RGD:10802 D RGD:14975138|PMID:30249047 20190930 RGD 2901 Il6 interleukin 6 gene DOID:326 ischemia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18091701 2901 Il6 interleukin 6 gene DOID:331 central nervous system disease ISO RGD:1352582 D RGD:7829731|PMID:9000037 20140123 RGD associated with Behcet Snydorme;protein:increased activity:cerebral spinal fluid: 2901 Il6 interleukin 6 gene DOID:3310 atopic dermatitis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 2901 Il6 interleukin 6 gene DOID:3388 periodontal disease ISO RGD:1352582 D RGD:2307284|PMID:19017034 20090526 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:3388 periodontal disease severity ISO RGD:1352582 D RGD:1601585|PMID:17286759 20070425 RGD 2901 Il6 interleukin 6 gene DOID:3393 coronary artery disease ISO RGD:1352582 D RGD:2307251|PMID:19368923 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:341 peripheral vascular disease ISO RGD:1352582 D RGD:2307191|PMID:19397692 20090520 RGD associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626|PMID:21940958|PMID:25257527 2901 Il6 interleukin 6 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13792833|PMID:29498696 20181002 RGD 2901 Il6 interleukin 6 gene DOID:3526 cerebral infarction treatment ISO RGD:10802 D RGD:155260331|PMID:29111308 20220930 RGD 2901 Il6 interleukin 6 gene DOID:37 skin disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2901 Il6 interleukin 6 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352582 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased expression:blood serum (human) 2901 Il6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:10802 D RGD:4143241|PMID:20846163 20100921 RGD 2901 Il6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:25216247 2901 Il6 interleukin 6 gene DOID:3825 Shwartzman phenomenon treatment ISO RGD:10802 D RGD:11060272|PMID:1381315 20160420 RGD 2901 Il6 interleukin 6 gene DOID:417 autoimmune disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19077085 2901 Il6 interleukin 6 gene DOID:418 systemic scleroderma treatment ISO RGD:1352582 D RGD:12792238|PMID:23406616 20170313 RGD 2901 Il6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 2901 Il6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:2307290|PMID:18752089 20090526 RGD fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:2307291|PMID:18608123 20090526 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:4251 conjunctival disease ISO RGD:1352582 D RGD:7829815|PMID:19158563 20140128 RGD conjunctivochalasis;protein:increased expression:tear: 2901 Il6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:155582223|PMID:35799735 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) 2901 Il6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:7829760|PMID:22066978 20140123 RGD associated with Retinal vein occlusion;protein:increased expression:vitreous: 2901 Il6 interleukin 6 gene DOID:4450 renal cell carcinoma ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 2901 Il6 interleukin 6 gene DOID:4677 keratitis susceptibility ISO RGD:1352582 D RGD:7829772|PMID:22503230 20140124 RGD DNA:SNPs,haplotype:promoter:-174 G>C,−572 C/G(human) 2901 Il6 interleukin 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352582 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 2901 Il6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17621267 2901 Il6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:14975292|PMID:28925763 20191004 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:2317167|PMID:15011822 20100317 RGD 2901 Il6 interleukin 6 gene DOID:5082 liver cirrhosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12830005 2901 Il6 interleukin 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352582 D RGD:10449449|PMID:1768380 20160105 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:7829748|PMID:1800167 20140123 RGD protein:increased expression:vitreous: 2901 Il6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:7829821|PMID:21978265 20140128 RGD associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid: 2901 Il6 interleukin 6 gene DOID:5419 schizophrenia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 2901 Il6 interleukin 6 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:1352582 D RGD:11062135|PMID:9322101 20160427 RGD protein:increased expression:serum, ascites (human) 2901 Il6 interleukin 6 gene DOID:5463 cochlear disease IEP D RGD:13792837|PMID:29304389 20181002 RGD 2901 Il6 interleukin 6 gene DOID:552 pneumonia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2901 Il6 interleukin 6 gene DOID:552 pneumonia disease_progression ISO RGD:1352582 D RGD:4140400|PMID:20595152 20100825 RGD protein:increased expression:blood 2901 Il6 interleukin 6 gene DOID:574 peripheral nervous system disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18270703 2901 Il6 interleukin 6 gene DOID:576 proteinuria ISO RGD:1352582 D RGD:2307194|PMID:19377212 20090520 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:5773 oral submucous fibrosis ISO RGD:1352582 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 2901 Il6 interleukin 6 gene DOID:5844 myocardial infarction ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 2901 Il6 interleukin 6 gene DOID:6000 congestive heart failure IDA D RGD:2307285|PMID:18999900 20090526 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) 2901 Il6 interleukin 6 gene DOID:6000 congestive heart failure IEP D RGD:14975271|PMID:28939262 20191003 RGD 2901 Il6 interleukin 6 gene DOID:6000 congestive heart failure IEP D RGD:5128682|PMID:18280594 20110315 RGD associated with Hypertension;mRNA:increased expression:heart 2901 Il6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:16360360 2901 Il6 interleukin 6 gene DOID:630 genetic disease ISO RGD:1352582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2901 Il6 interleukin 6 gene DOID:6432 pulmonary hypertension IDA D RGD:4143246|PMID:20693255 20100921 RGD 2901 Il6 interleukin 6 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:1352582 D RGD:4142530|PMID:20713898 20100921 RGD 2901 Il6 interleukin 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352582 D RGD:7829742|PMID:9489833 20140123 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1352582 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:17615358|PMID:20818158|PMID:26297436|PMID:27022031 2901 Il6 interleukin 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:10802 D RGD:11344640|PMID:26569409 20210421 RGD mRNA,protein:increased expression:liver, blood serum (mouse) 2901 Il6 interleukin 6 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352582 D RGD:14975289|PMID:27368337 20191004 RGD DNA:SNP: :rs2069852 (human) 2901 Il6 interleukin 6 gene DOID:699 mitochondrial myopathy ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2901 Il6 interleukin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1352582 D RGD:12792209|PMID:26339141 20170309 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274|PMID:22450443 2901 Il6 interleukin 6 gene DOID:7188 autoimmune thyroiditis severity ISO RGD:10802 D RGD:2307256|PMID:19301205 20090526 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) 2901 Il6 interleukin 6 gene DOID:783 end stage renal disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 2901 Il6 interleukin 6 gene DOID:801 hemarthrosis treatment ISO RGD:10802 D RGD:11060150|PMID:23413986 20160419 RGD associated with Hemophilia A 2901 Il6 interleukin 6 gene DOID:820 myocarditis ISO RGD:1352582 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 2901 Il6 interleukin 6 gene DOID:824 periodontitis susceptibility ISO RGD:1352582 D RGD:1601588|PMID:17209781 20070425 RGD chronic periodontitis 2901 Il6 interleukin 6 gene DOID:824 periodontitis treatment ISO RGD:10802 D RGD:14975132|PMID:27795360 20190930 RGD 2901 Il6 interleukin 6 gene DOID:8283 peritonitis ISO RGD:1352582 D RGD:14975296|PMID:26601826 20191004 RGD 2901 Il6 interleukin 6 gene DOID:8463 corneal ulcer ISO RGD:1352582 D RGD:7829721|PMID:12714388 20140122 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: 2901 Il6 interleukin 6 gene DOID:8483 retinal artery occlusion ISO RGD:10802 D RGD:7829809|PMID:19421412 20140124 RGD 2901 Il6 interleukin 6 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:1352582 D RGD:7829798|PMID:15604420 20140124 RGD DNA:polymorphism>promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:850 lung disease IDA D RGD:5134961|PMID:20709317 20100921 RGD Acute Lung Injury associated with Pancreatitis 2901 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:4143242|PMID:20845074 20100921 RGD Acute Lung Injury associated with Sepsis 2901 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:4143249|PMID:20683250 20100921 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung 2901 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:4143256|PMID:20639460 20100921 RGD Acute Lung Injury associated with Endotoxemia;protein:increased expression:lung 2901 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:1352582 D RGD:5128667|PMID:15547537 20110315 RGD protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:850 lung disease severity IEP D RGD:4143244|PMID:20818231 20100921 RGD Acute Lung Injury;mRNA:increased expression:lung 2901 Il6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352582 D RGD:11049165|PMID:19573080 20160405 RGD DNA:SNPs: :multiple 2901 Il6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:1352582 D RGD:11049168|PMID:21466366 20160405 RGD 2901 Il6 interleukin 6 gene DOID:8574 lichen disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 2901 Il6 interleukin 6 gene DOID:8632 Kaposi's sarcoma ISO RGD:1352582 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Kaposi's sarcoma PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 2901 Il6 interleukin 6 gene DOID:8632 Kaposi's sarcoma susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 2901 Il6 interleukin 6 gene DOID:8677 perinatal necrotizing enterocolitis treatment IEP D RGD:2324672|PMID:20501441 20211120 RGD 2901 Il6 interleukin 6 gene DOID:874 bacterial pneumonia severity ISO RGD:10802 D RGD:38501102|PMID:25398094 20200818 RGD 2901 Il6 interleukin 6 gene DOID:8778 Crohn's disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 2901 Il6 interleukin 6 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 2901 Il6 interleukin 6 gene DOID:8869 neuromyelitis optica severity ISO RGD:1352582 D RGD:7829722|PMID:20128675 20140122 RGD protein:increased expression:serum, cerebral spinal fluid: 2901 Il6 interleukin 6 gene DOID:8893 psoriasis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844318 2901 Il6 interleukin 6 gene DOID:8927 learning disability disease_progression ISO RGD:10802 D RGD:7829733|PMID:9037082 20140123 RGD 2901 Il6 interleukin 6 gene DOID:893 Wilson disease ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 2901 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:2307267|PMID:19140096 20090526 RGD associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:2307272|PMID:18988929 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:7829749|PMID:17725274 20140123 RGD associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352582 D RGD:7829816|PMID:19542902 20140128 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:11062150|PMID:27085942 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:14975124|PMID:29691718 20190927 RGD 2901 Il6 interleukin 6 gene DOID:9000053 Headache ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7537110 2901 Il6 interleukin 6 gene DOID:9000099 Experimental Colitis IEP D RGD:8662978|PMID:16630696 20140701 RGD 2901 Il6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment IDA D RGD:11062139|PMID:16133010 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10802 D RGD:11062146|PMID:27096537 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:9831197|PMID:25443778 20150303 RGD protein:increased expression:brain 2901 Il6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis treatment IDA D RGD:11062107|PMID:8943431 20160426 RGD 2901 Il6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis treatment IMP D RGD:11060264|PMID:11581077 20160420 RGD 2901 Il6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 2901 Il6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:2306981|PMID:19118698 20090526 RGD diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23593346 2901 Il6 interleukin 6 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1352582 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 2901 Il6 interleukin 6 gene DOID:9000310 Lung Injury ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 2901 Il6 interleukin 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352582 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 2901 Il6 interleukin 6 gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 2901 Il6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352582 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:26101800 2901 Il6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352582 D RGD:127229952|PMID:28186964 20210604 RGD associated with stomach cancer, human cells in mouse model 2901 Il6 interleukin 6 gene DOID:9000972 Fever IEP D RGD:7241096|PMID:22042912 20160426 RGD protein:increased expression:plasma (rat) 2901 Il6 interleukin 6 gene DOID:9000972 Fever ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7537110|PMID:11852909|PMID:15384034 2901 Il6 interleukin 6 gene DOID:9000998 Brain Injuries IEP D RGD:11049549|PMID:10027774 20160408 RGD protein:increased expression:cerebrospinal fluid (rat) 2901 Il6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006|PMID:23159883 2901 Il6 interleukin 6 gene DOID:9001103 Heat Stress Disorders IEP D RGD:11060279|PMID:23993269 20160420 RGD mRNA:increased expression:liver (rat) 2901 Il6 interleukin 6 gene DOID:9001191 Cadmium Poisoning IEP D RGD:11060270|PMID:19462680 20160420 RGD in males;protein:increased expression, increased activity:plasma (rat) 2901 Il6 interleukin 6 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:10402827|PMID:21492407 20151030 RGD 2901 Il6 interleukin 6 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1352582 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 2901 Il6 interleukin 6 gene DOID:9001488 Human Influenza ISO RGD:10802 D RGD:4143268|PMID:20731583 20100921 RGD 2901 Il6 interleukin 6 gene DOID:9001542 Albuminuria ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 2901 Il6 interleukin 6 gene DOID:9001553 Spinal Cord Compression IEP D RGD:14975119|PMID:30327453 20190926 RGD protein:increased expression:cerebrospinal fluid, serum 2901 Il6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10802 D RGD:39939037|PMID:28465467 20201022 RGD mRNA:increased expression:liver (mouse) 2901 Il6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:10450610|PMID:24383550 20160119 RGD 2901 Il6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 2901 Il6 interleukin 6 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1352582 D RGD:12792208|PMID:22906886 20170309 RGD associated with Premature Birth;protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352582 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 2901 Il6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:10802 D RGD:11344640|PMID:26569409 20210421 RGD protein:increased expression:blood serum (mouse) 2901 Il6 interleukin 6 gene DOID:9001600 Wounds and Injuries ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 2901 Il6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 2901 Il6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:155230830|PMID:32178736 20220922 RGD protein:increased expression:blood serum (human) 2901 Il6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome treatment IEP D RGD:155230830|PMID:32178736 20220922 RGD 2901 Il6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:5128673|PMID:21168948 20110315 RGD protein:increased expression:plasma 2901 Il6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 2901 Il6 interleukin 6 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7829807|PMID:16530172 20140124 RGD mRNA:increased expression:retina: 2901 Il6 interleukin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 2901 Il6 interleukin 6 gene DOID:9002096 Foot Injuries IEP D RGD:8662979|PMID:18988309 20140701 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10802 D RGD:4143255|PMID:20643849 20100921 RGD 2901 Il6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:11062134|PMID:24752458 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10802 D RGD:155260323|PMID:32155285 20220930 RGD 2901 Il6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies IDA D RGD:2307281|PMID:19052104 20090526 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat) 2901 Il6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352582 D RGD:2307282|PMID:18716362 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1352582 D RGD:7829816|PMID:19542902 20140128 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:9002211 Hyperalgesia IEP D RGD:10402830|PMID:23953943 20151030 RGD mRNA:increased expression:dorsal root ganglion 2901 Il6 interleukin 6 gene DOID:9002211 Hyperalgesia IEP D RGD:8662979|PMID:18988309 20140701 RGD associated with Foot Injuries; protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7582491|PMID:10401557|PMID:18652822 2901 Il6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:11522755|PMID:10870116 20160808 RGD protein:increased expression:plasma: 2901 Il6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 2901 Il6 interleukin 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15672864|PMID:17196171|PMID:19011039|PMID:19240160|PMID:25970160 2901 Il6 interleukin 6 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IDA D RGD:11062109|PMID:26339812 20160426 RGD 2901 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20131233|PMID:20974942|PMID:22450443 2901 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:11060267|PMID:8607900 20160420 RGD 2901 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:10755447|PMID:24028507 20160128 RGD 2901 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:11049551|PMID:23503893 20160408 RGD 2901 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10802 D RGD:11049553|PMID:10381487 20160408 RGD 2901 Il6 interleukin 6 gene DOID:9002633 Premature Obstetric Labor ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20610570|PMID:22122352 2901 Il6 interleukin 6 gene DOID:9002676 Cerebral Hemorrhage ameliorates IEP D RGD:329337378|PMID:31376096 20230429 RGD 2901 Il6 interleukin 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19401270 2901 Il6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2307412|PMID:9358769 20090609 RGD protein:increased expression:oligodendrocytes (rat) 2901 Il6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10802 D RGD:12791289|PMID:23322593 20170306 RGD 2901 Il6 interleukin 6 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 2901 Il6 interleukin 6 gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:7829818|PMID:16429448 20140128 RGD 2901 Il6 interleukin 6 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1352582 D RGD:2317166|PMID:17617204 20100317 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:9003104 Intracranial Hemorrhages susceptibility ISO RGD:1352582 D RGD:12792203|PMID:15331795 20170308 RGD DNA:polymorphism:promoter -174G>C(human) 2901 Il6 interleukin 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2901 Il6 interleukin 6 gene DOID:9003507 Premature Birth ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 2901 Il6 interleukin 6 gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1352582 D RGD:12792241|PMID:22117975 20170313 RGD DNA:polymorphism: :174G>C(human) 2901 Il6 interleukin 6 gene DOID:9003688 Toxoplasma Chorioretinitis susceptibility ISO RGD:1352582 D RGD:7829805|PMID:23336844 20140124 RGD DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:9003730 Chemical Burns ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 2901 Il6 interleukin 6 gene DOID:9003737 Ascorbic Acid Deficiency IEP D RGD:1643102|PMID:9566989 20160426 RGD protein:increased expression:serum (rat) 2901 Il6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1352582 D RGD:7394753|PMID:11189185 20140123 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1352582 D RGD:8547982|PMID:22385075 20140304 RGD DNA:polymorphism:cds:p.C572G(human) 2901 Il6 interleukin 6 gene DOID:9003828 Klebsiella Infections treatment IDA D RGD:11062093|PMID:8432613 20160425 RGD 2901 Il6 interleukin 6 gene DOID:9003936 Cardiomegaly IEP D RGD:1581939|PMID:15542404 20140321 RGD mRNA, protein:increased expression:heart 2901 Il6 interleukin 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:4143250|PMID:20680426 20100921 RGD 2901 Il6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:10802 D RGD:4143253|PMID:20659747 20100921 RGD protein:increased expression:lung 2901 Il6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17032661|PMID:18258783|PMID:19673871|PMID:21940958 2901 Il6 interleukin 6 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1352582 D RGD:14975294|PMID:27812403 20191004 RGD DNA:SNPs:promoter:rs1800795 (human) 2901 Il6 interleukin 6 gene DOID:9004210 Tympanic Membrane Perforation IEP D RGD:8547981|PMID:24012216 20140304 RGD mRNA:increased expression:tympanic membrane: 2901 Il6 interleukin 6 gene DOID:9004484 Sepsis IAGP D RGD:2307280|PMID:19079684 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:increased expression:liver, extracellular space (rat) 2901 Il6 interleukin 6 gene DOID:9004484 Sepsis IEP D RGD:14975121|PMID:27598601 20190926 RGD 2901 Il6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:1352582 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 2901 Il6 interleukin 6 gene DOID:9004484 Sepsis treatment IDA D RGD:11062009|PMID:25317848 20160421 RGD 2901 Il6 interleukin 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 2901 Il6 interleukin 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352582 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26101800|PMID:26284488 2901 Il6 interleukin 6 gene DOID:9004590 Acute Liver Failure treatment IDA D RGD:11062151|PMID:27085796 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9004610 Acute Lung Injury IEP D RGD:11062103|PMID:19995278 20160426 RGD protein:increased expression:bronchoalveolar lavage, blood, lung (rat) 2901 Il6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1352582 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 2901 Il6 interleukin 6 gene DOID:9004649 Heat Stroke ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2901 Il6 interleukin 6 gene DOID:9004713 Acute-Phase Reaction ISO RGD:1352582 D RGD:11060262|PMID:7678052 20160420 RGD human protein in a rat model 2901 Il6 interleukin 6 gene DOID:9004912 Hyperoxaluria ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 2901 Il6 interleukin 6 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 2901 Il6 interleukin 6 gene DOID:9004932 Eales Disease ISO RGD:1352582 D RGD:7829790|PMID:22025890 20140124 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:9004932 Eales Disease susceptibility ISO RGD:1352582 D RGD:7829790|PMID:22025890 20140124 RGD DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:9004983 Fetal Inflammatory Response Syndrome ISO RGD:1352582 D RGD:12801490|PMID:24832219 20170404 RGD associated with Premature Birth; 2901 Il6 interleukin 6 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10802 D RGD:38501105|PMID:21923716 20200818 RGD mRNA:increased expression:placenta: 2901 Il6 interleukin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 2901 Il6 interleukin 6 gene DOID:9005372 Inflammation ISO RGD:1352582 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:19762220|PMID:19803787|PMID:20056584|PMID:20578705|PMID:20816778|PMID:21467745|PMID:23159501|PMID:23371441|PMID:26297436 2901 Il6 interleukin 6 gene DOID:9005372 Inflammation treatment IDA D RGD:11060261|PMID:25319517 20160420 RGD 2901 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2307252|PMID:19328014 20090526 RGD protein:increased expression:extracellular space (rat) 2901 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306984|PMID:18976114 20090526 RGD protein:increased expression:blood 2901 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142788|PMID:20555424 20100909 RGD protein:increased expression:heart 2901 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10802 D RGD:11049554|PMID:24582317 20160408 RGD 2901 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 2901 Il6 interleukin 6 gene DOID:9005749 Necrosis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 2901 Il6 interleukin 6 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1352582 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 2901 Il6 interleukin 6 gene DOID:9005930 Endotoxemia IDA D RGD:2307179|PMID:19449282 20090520 RGD associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) 2901 Il6 interleukin 6 gene DOID:9005930 Endotoxemia IDA D RGD:5147765|PMID:21396682 20120322 RGD 2901 Il6 interleukin 6 gene DOID:9005930 Endotoxemia IEP D RGD:6893482|PMID:22227956 20160426 RGD protein:increased expression:serum (rat) 2901 Il6 interleukin 6 gene DOID:9006024 Hypotension ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15217654|PMID:15384034 2901 Il6 interleukin 6 gene DOID:9006607 Hemifacial Spasm ISO RGD:1352582 D RGD:14975126|PMID:30684712 20190927 RGD 2901 Il6 interleukin 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 2901 Il6 interleukin 6 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:10802 D RGD:11344640|PMID:26569409 20210421 RGD protein:increased expression:blood serum (mouse) 2901 Il6 interleukin 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352582 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 2901 Il6 interleukin 6 gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10802 D RGD:153350155|PMID:34238924 20220914 RGD 2901 Il6 interleukin 6 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352582 D RGD:5128668|PMID:14738241 20110315 RGD mRNA, protein:increased expression:respiratory system fluid/secretion 2901 Il6 interleukin 6 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10802 D RGD:7829813|PMID:11349084 20140128 RGD 2901 Il6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18319729 2901 Il6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:1580486|PMID:14512079 19990101 RGD 2901 Il6 interleukin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 2901 Il6 interleukin 6 gene DOID:9007271 Hypoalbuminemia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 2901 Il6 interleukin 6 gene DOID:9007346 Cachexia IEP D RGD:11062106|PMID:9110147 20160426 RGD associated with Leukemia, T-Cell;protein:increased activity:plasma (rat) 2901 Il6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 2901 Il6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 2901 Il6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:7829719|PMID:21235536 20140122 RGD DNA:polymorphism:promoter:-572C>G(human) 2901 Il6 interleukin 6 gene DOID:9007367 Septic Peritonitis IEP D RGD:11062137|PMID:19897171 20160427 RGD protein:increased expression:plasma (rat) 2901 Il6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7532385|PMID:15763341 2901 Il6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 2901 Il6 interleukin 6 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:10802 D RGD:32733623|PMID:27175332 20200701 RGD 2901 Il6 interleukin 6 gene DOID:9007480 Hyperoxia IEP D RGD:4143252|PMID:20663297 20100921 RGD 2901 Il6 interleukin 6 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10802 D RGD:242905211|PMID:32084395 20230329 RGD associated with obesity 2901 Il6 interleukin 6 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352582 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:23593346|PMID:26101800 2901 Il6 interleukin 6 gene DOID:9007692 Insulin Resistance IDA D RGD:2307252|PMID:19328014 20090526 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) 2901 Il6 interleukin 6 gene DOID:9007692 Insulin Resistance IEP D RGD:10402828|PMID:21826222 20151030 RGD mRNA:increased expression:islet of Langerhans 2901 Il6 interleukin 6 gene DOID:9007730 Burns ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10431976|PMID:18277951 2901 Il6 interleukin 6 gene DOID:9007755 Intestinal Reperfusion Injury treatment IDA D RGD:11062110|PMID:11959089 20160426 RGD 2901 Il6 interleukin 6 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:11062149|PMID:27087891 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220925 RGD 2901 Il6 interleukin 6 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1352582 D RGD:12792237|PMID:23906927 20170313 RGD 2901 Il6 interleukin 6 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10802 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 2901 Il6 interleukin 6 gene DOID:9008414 Pulmonary Contusion IEP D RGD:11060268|PMID:16044083 20160614 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) 2901 Il6 interleukin 6 gene DOID:9008523 Subretinal Fibrosis ISO RGD:10802 D RGD:10402815|PMID:24790857 20151030 RGD 2901 Il6 interleukin 6 gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 2901 Il6 interleukin 6 gene DOID:9008652 Postoperative Atrial Fibrillation disease_progression ISO RGD:1352582 D RGD:9495910|PMID:18946567 20140917 RGD 2901 Il6 interleukin 6 gene DOID:9008691 Liver Injury IEP D RGD:11060263|PMID:16549690 20160420 RGD protein:increased expression:serum (rat) 2901 Il6 interleukin 6 gene DOID:9008691 Liver Injury treatment IDA D RGD:11062142|PMID:27109160 20160427 RGD associated with Myocardial Reperfusion Injury 2901 Il6 interleukin 6 gene DOID:9008763 Femoral Fractures IEP D RGD:5131471|PMID:21442011 20120321 RGD protein:increased expression:serum 2901 Il6 interleukin 6 gene DOID:9008824 Sarcopenia ISO RGD:1352582 D RGD:10045859|PMID:12919235 20150618 RGD 2901 Il6 interleukin 6 gene DOID:9008865 Entamoebiasis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 2901 Il6 interleukin 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19435922|PMID:19446661 2901 Il6 interleukin 6 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1352582 D RGD:7829718|PMID:11426023 20140122 RGD associated with obesity;DNA:polymorphism:promoter:-174G>C(human) 2901 Il6 interleukin 6 gene DOID:9008967 Brain Concussion treatment IDA D RGD:11062140|PMID:27113205 20160427 RGD 2901 Il6 interleukin 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500730 2901 Il6 interleukin 6 gene DOID:9065 leishmaniasis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 2901 Il6 interleukin 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 2901 Il6 interleukin 6 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735591|RGD:1352582 D RGD:11046264|PMID:23357299 20160404 RGD 2901 Il6 interleukin 6 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352582 D RGD:11062010|PMID:8892684 20160421 RGD human protein in a rat model 2901 Il6 interleukin 6 gene DOID:9146 visceral leishmaniasis ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7554475|PMID:17404324|PMID:22461696 2901 Il6 interleukin 6 gene DOID:9256 colorectal cancer ISO RGD:1352582 D RGD:14975287|PMID:28349833 20191004 RGD DNA:SNP:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:10802 D RGD:2307278|PMID:19120268 20090526 RGD mRNA:decreased expression:dendritic cell (mouse) 2901 Il6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:2307180|PMID:19442860 20090520 RGD protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:2307273|PMID:19139294 20090526 RGD associated with Dementia; protein:increased expression:brain (human) 2901 Il6 interleukin 6 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:2307293|PMID:18689695 20090526 RGD DNA:polymorphism:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2307269|PMID:19084046 20090526 RGD mRNA:increased expression:adipose tissue 2901 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:14975285|PMID:28303994 20191004 RGD DNA, protein:SNP, increased expression:promoter:serum, -174G>C (human) 2901 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:2307266|PMID:19175895 20090526 RGD protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:2307270|PMID:18573122 20090526 RGD DNA:polymorphism:promoter:-572C>G (human) 2901 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 2901 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 2901 Il6 interleukin 6 gene DOID:9402 epididymitis IEP D RGD:13792835|PMID:29311626 20181002 RGD 2901 Il6 interleukin 6 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 2901 Il6 interleukin 6 gene DOID:9452 fatty liver disease IAGP D RGD:2307264|PMID:19076162 20090526 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat) 2901 Il6 interleukin 6 gene DOID:9452 fatty liver disease ISO RGD:10802 D RGD:2307258|PMID:19205029 20090526 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) 2901 Il6 interleukin 6 gene DOID:9538 multiple myeloma ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8520508|PMID:12855565|PMID:19330649 2901 Il6 interleukin 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 2901 Il6 interleukin 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1352582 D RGD:7829748|PMID:1800167 20140123 RGD protein:increased expression:vitreous: 2901 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10802 D RGD:2307279|PMID:16960101 20090526 RGD protein:increased expression:extracellular space (mouse) 2901 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:2307193|PMID:19382103 20090520 RGD protein:increased expression:extracellular space (human) 2901 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:2307275|PMID:19127455 20090526 RGD DNA:polymorphism:promoter:-174G>C (human) 2901 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:7829749|PMID:17725274 20140123 RGD protein:increased expression:serum: 2901 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:9769329 2901 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20230517 OMIM 2901 Il6 interleukin 6 gene DOID:9970 obesity IEP D RGD:10402828|PMID:21826222 20151030 RGD mRNA:increased expression:islet of Langerhans 2901 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20141834|PMID:24042701 2901 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:1601582|PMID:16493118 20070425 RGD 2901 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:2307257|PMID:19228869 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) 2902 Il6r interleukin 6 receptor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736525 D RGD:10402826|PMID:21859801 20151030 RGD protein:increased expression:serum 2902 Il6r interleukin 6 receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 2902 Il6r interleukin 6 receptor gene DOID:0050847 sleep apnea ISO RGD:736525 D RGD:5128666|PMID:16983050 20110315 RGD 2902 Il6r interleukin 6 receptor gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:10534 stomach cancer ISO RGD:736525 D RGD:14975291|PMID:28442395 20191004 RGD DNA:SNP: :rs2228145 (human) 2902 Il6r interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:10402808|PMID:12664314 20151029 RGD protein:increased expression:cerebrospinal fluid, plasma 2902 Il6r interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:10402810|PMID:20197062 20151029 RGD DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) 2902 Il6r interleukin 6 receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:736525 D RGD:10402810|PMID:20197062 20151029 RGD DNA:SNPs:promoter:-208G>A (rs4845617) (human) 2902 Il6r interleukin 6 receptor gene DOID:10763 hypertension severity ISO RGD:736525 D RGD:1625432|PMID:11778537 20070608 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum 2902 Il6r interleukin 6 receptor gene DOID:11446 sciatic neuropathy IEP D RGD:5128675|PMID:20519054 20110315 RGD protein:increased expression:dorsal root ganglion 2902 Il6r interleukin 6 receptor gene DOID:11476 osteoporosis ISO RGD:736525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 2902 Il6r interleukin 6 receptor gene DOID:11832 visual epilepsy IEP D RGD:1625441|PMID:12591161 20070608 RGD mRNA:increased expression:hippocampus 2902 Il6r interleukin 6 receptor gene DOID:12361 Graves' disease ISO RGD:736525 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 2902 Il6r interleukin 6 receptor gene DOID:12361 Graves' disease disease_progression ISO RGD:736525 D RGD:7829750|PMID:12818091 20140123 RGD protein:increased expression:serum: 2902 Il6r interleukin 6 receptor gene DOID:12858 Huntington's disease treatment ISO RGD:736525 D RGD:10402809|PMID:11860469 20151029 RGD 2902 Il6r interleukin 6 receptor gene DOID:13141 uveitis ISO RGD:736525 D RGD:7829723|PMID:10420202 20140122 RGD protein:increased expression:aqueous humor: 2902 Il6r interleukin 6 receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:736525 D RGD:10402814|PMID:17401618 20151030 RGD protein:increased expression:serum 2902 Il6r interleukin 6 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:1596 depressive disorder IEP D RGD:10402829|PMID:23589140 20151030 RGD mRNA:increased expression:colon 2902 Il6r interleukin 6 receptor gene DOID:2518 orchitis IEP D RGD:1625434|PMID:16458979 20070608 RGD protein:increased expression:male germ cell 2902 Il6r interleukin 6 receptor gene DOID:2841 asthma ISO RGD:10803 D RGD:5128630|PMID:21115736 20110314 RGD 2902 Il6r interleukin 6 receptor gene DOID:2841 asthma ISO RGD:10803 D RGD:5128662|PMID:17496315 20110315 RGD 2902 Il6r interleukin 6 receptor gene DOID:2841 asthma ISO RGD:736525 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 2902 Il6r interleukin 6 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:736525 D RGD:5128632|PMID:20019339 20110314 RGD protein:decreased expression:T cell 2902 Il6r interleukin 6 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:10803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 2902 Il6r interleukin 6 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22552503 2902 Il6r interleukin 6 receptor gene DOID:4450 renal cell carcinoma ISO RGD:736525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 2902 Il6r interleukin 6 receptor gene DOID:5419 schizophrenia ISO RGD:736525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 2902 Il6r interleukin 6 receptor gene DOID:5812 MHC class II deficiency ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:5844 myocardial infarction IEP D RGD:1625444|PMID:12123772 20070608 RGD 2902 Il6r interleukin 6 receptor gene DOID:6000 congestive heart failure IEP D RGD:1625433|PMID:17095650 20070608 RGD protein:increased expression:paraventricular hypothalamic nucleus 2902 Il6r interleukin 6 receptor gene DOID:630 genetic disease ISO RGD:736525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:736525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16729287|PMID:23143596 2902 Il6r interleukin 6 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:736525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 2902 Il6r interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:7240710 20200812 OMIM 2902 Il6r interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive PMID:25741868|PMID:28492532|PMID:31235509|PMID:8467812 2902 Il6r interleukin 6 receptor gene DOID:9000972 Fever ISO RGD:10803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 2902 Il6r interleukin 6 receptor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:10402827|PMID:21492407 20151030 RGD 2902 Il6r interleukin 6 receptor gene DOID:9002211 Hyperalgesia IEP D RGD:10402830|PMID:23953943 20151030 RGD mRNA:increased expression:dorsal root ganglion 2902 Il6r interleukin 6 receptor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis treatment ISO RGD:736525 D RGD:10402823|PMID:18358927 20151030 RGD 2902 Il6r interleukin 6 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:10803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 2902 Il6r interleukin 6 receptor gene DOID:9004649 Heat Stroke ISO RGD:10803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2902 Il6r interleukin 6 receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:729416|PMID:2174054 20070608 RGD mRNA:increased expression:liver 2902 Il6r interleukin 6 receptor gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736525 D RGD:1625430|PMID:16817825 20070608 RGD DNA:polymorphism: :p.D358A 2902 Il6r interleukin 6 receptor gene DOID:9007355 Hashimoto Disease ISO RGD:736525 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 2902 Il6r interleukin 6 receptor gene DOID:9007692 Insulin Resistance ISO RGD:736525 D RGD:1625431|PMID:14962155 20070608 RGD protein:decreased expression:serum 2902 Il6r interleukin 6 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736525 D RGD:1625435|PMID:16056242 20070608 RGD 2902 Il6r interleukin 6 receptor gene DOID:9008523 Subretinal Fibrosis treatment ISO RGD:10803 D RGD:10402815|PMID:24790857 20151030 RGD 2902 Il6r interleukin 6 receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:736525 D RGD:5128631|PMID:20951753 20110314 RGD DNA:polymorphisms:promoter, exon:-183G>A (human) 2902 Il6r interleukin 6 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736525 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2902 Il6r interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:10402807|PMID:17984249 20151029 RGD DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human) 2902 Il6r interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:1625429|PMID:17434052 20070608 RGD protein:increased expression:serum 2902 Il6r interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:1625428|PMID:12917504 20070608 RGD DNA:duplication 2902 Il6r interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:1625430|PMID:16817825 20070608 RGD DNA:polymorphism: :p.D358A 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:7240710 20190911 OMIM 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant PMID:17576681|PMID:25741868|PMID:28492532|PMID:28747427|PMID:30309848|PMID:32207811|PMID:33771552|PMID:9536098 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:10534 stomach cancer ISS RGD:731410 D RGD:13592920 20180518 MouseDO OMIM:137215 | OMIM:613659 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:10652 Alzheimer's disease ISO RGD:731409 D RGD:10402847|PMID:10095017 20151102 RGD protein:decreased expression:cerebrospinal fluid 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:10763 hypertension severity ISO RGD:731409 D RGD:1625432|PMID:11778537 20070817 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:11613 hyperandrogenism resistance ISO RGD:731409 D RGD:1625428|PMID:12917504 20070817 RGD DNA:polymorphism:cds:p148G>R 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:11832 visual epilepsy IEP D RGD:1627572|PMID:14597225 20070821 RGD mRNA:increased expression:hippocampus, granule cell (rat) 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:1205 allergic disease ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:1824 status epilepticus IEP D RGD:1627571|PMID:14614900 20070821 RGD mRNA:increased expression:hippocampus (rat) 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:2316 brain ischemia IEP D RGD:1627568|PMID:15469886 20070821 RGD mRNA:increased expression:brain, astrocyte 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis ISO RGD:731410 D RGD:1626686|PMID:17664290 20070817 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis susceptibility ISO RGD:731409 D RGD:1626686|PMID:17664290 20070817 RGD DNA:SNPs 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:305 carcinoma ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:731409 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:25741868|PMID:32207811 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:3525 middle cerebral artery infarction ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:552 pneumonia ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:630 genetic disease ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:684 hepatocellular carcinoma IEP D RGD:1626706|PMID:15780071 20070821 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:8466 retinal degeneration ISO RGD:731410 D RGD:10402848|PMID:19948961 20151102 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000641 Pain ISO RGD:731409 D RGD:5509945|PMID:20626857 20050217 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:7240710 20220330 OMIM 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:31914175 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:7240710 20220316 OMIM 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies PMID:19020503|PMID:33517393 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002234 Pituitary Neoplasms IDA D RGD:1627046|PMID:15538938 20070821 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002304 Prostatic Neoplasms ISO RGD:731409 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002457 Experimental Arthritis ISO RGD:731409 D RGD:5509945|PMID:20626857 20050217 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002720 Splenomegaly ISO RGD:731410 D RGD:737752|PMID:12219085 19990101 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002762 Ovarian Neoplasms ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9003936 Cardiomegaly ISO RGD:731410 D RGD:737751|PMID:10219240 19990101 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9004009 Reperfusion Injury ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731409 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:731409 D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:31914175 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9006599 Hypertriglyceridemia IDA D RGD:1626687|PMID:8843746 20070817 RGD 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9007102 Myocardial Ischemia ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2903 Il6st interleukin 6 cytokine family signal transducer gene DOID:9008443 Colorectal Neoplasms ISO RGD:731409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19223499 2904 Il7 interleukin 7 gene DOID:0080600 COVID-19 ISO RGD:737457 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 2904 Il7 interleukin 7 gene DOID:0080600 COVID-19 severity ISO RGD:737457 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 2904 Il7 interleukin 7 gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2904 Il7 interleukin 7 gene DOID:10603 glucose intolerance ISO RGD:737457 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:20376352 2904 Il7 interleukin 7 gene DOID:10652 Alzheimer's disease ISO RGD:737457 D RGD:10402933|PMID:22571981 20151103 RGD 2904 Il7 interleukin 7 gene DOID:2377 multiple sclerosis ISO RGD:737457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17660816 2904 Il7 interleukin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 2904 Il7 interleukin 7 gene DOID:3070 high grade glioma IDA D RGD:727266|PMID:10078962 20120920 RGD 2904 Il7 interleukin 7 gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20151103 RGD 2904 Il7 interleukin 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737457 D RGD:151347686|PMID:21159243 20220201 RGD 2904 Il7 interleukin 7 gene DOID:4195 hyperglycemia ISO RGD:737457 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:20376352 2904 Il7 interleukin 7 gene DOID:614 lymphopenia ISO RGD:737457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17151827 2904 Il7 interleukin 7 gene DOID:630 genetic disease ISO RGD:737457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2904 Il7 interleukin 7 gene DOID:9000998 Brain Injuries ISO RGD:737457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 2904 Il7 interleukin 7 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:737458 D RGD:10402929|PMID:18992278 20151103 RGD 2904 Il7 interleukin 7 gene DOID:9004283 Transplant Rejection IEP D RGD:10402939|PMID:17532783 20151103 RGD mRNA:increased expression:liver 2904 Il7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 ISO RGD:737457 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 PMID:25981006 2904 Il7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 susceptibility ISO RGD:737457 D RGD:7240710 20190502 OMIM 2904 Il7 interleukin 7 gene DOID:9004657 Weight Gain ISO RGD:737457 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:20376352 2904 Il7 interleukin 7 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737458 D RGD:10402930|PMID:23662133 20151103 RGD 2904 Il7 interleukin 7 gene DOID:9007692 Insulin Resistance ISO RGD:737457 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:20376352 2904 Il7 interleukin 7 gene DOID:9970 obesity ISO RGD:737457 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:20376352 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353194 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0080784 urinary tract infection ISO RGD:1353194 D RGD:7207862|PMID:21151974 20130211 RGD 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:11400 pyelonephritis ISO RGD:1353194 D RGD:7207860|PMID:22325052 20130211 RGD DNA:SNP: :2608G>C (human) 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:11400 pyelonephritis ISO RGD:1353194 D RGD:7207864|PMID:17786197 20130211 RGD DNA:mutations, polymorphisms: :multiple 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:7207859|PMID:23336303 20130211 RGD 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353194 D RGD:7240710 20230505 OMIM 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353194 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1353194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:783 end stage renal disease ISO RGD:1353194 D RGD:7207863|PMID:20649681 20130211 RGD 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:1353194 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1353194 D RGD:7257676|PMID:21452410 20130829 RGD DNA:SNP:promoter:g.-2668G>A (rs2671222) (human) 2905 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353194 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:0060180 colitis IMP D RGD:7257706|PMID:14738862 20130830 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:735299 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:735299 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:0080784 urinary tract infection ISO RGD:735300 D RGD:7257688|PMID:18401338 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:10457 Legionnaires' disease ISO RGD:735300 D RGD:5135252|PMID:11254553 20110715 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:10459 common cold ISO RGD:735300 D RGD:5131210|PMID:19864593 20110707 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:10690 mastitis ISO RGD:735299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16041010 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:10763 hypertension ISO RGD:735299 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27678262 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:10952 nephritis IMP D RGD:7257685|PMID:11313419 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:735299 D RGD:2315930|PMID:19252927 20130829 RGD DNA:SNP 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:11400 pyelonephritis ISO RGD:735300 D RGD:7257675|PMID:21814172 20130828 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:11729 Lyme disease severity ISO RGD:735300 D RGD:7257681|PMID:12847259 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:735299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:12205 dengue disease treatment ISO RGD:735300 D RGD:39938828|PMID:30098206 20201013 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:12375 bronchopneumonia disease_progression ISO RGD:735300 D RGD:5134954|PMID:21356370 20110706 RGD associated with Plague 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:735300 D RGD:5135034|PMID:20818377 20110711 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:2154 nephroblastoma ISO RGD:735299 D RGD:7257700|PMID:17634442 20130830 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:735299 D RGD:7257677|PMID:21214373 20130829 RGD DNA:SNPs: :rs4674257, rs4674259 (human) 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735299 D RGD:5135248|PMID:12857718 20110715 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease IMP D RGD:7257694|PMID:19616545 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:735299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735300 D RGD:5134989|PMID:18836137 20110707 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:4450 renal cell carcinoma ISO RGD:735300 D RGD:7257682|PMID:16210641 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:735299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:735299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:559 acute pyelonephritis susceptibility ISO RGD:735299 D RGD:7207860|PMID:22325052 20130828 RGD DNA:polymorphism: :1208C>T (human) 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:735299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:783 end stage renal disease ISO RGD:735299 D RGD:7257672|PMID:23615182 20130828 RGD DNA:polymorphism: :1208C>T (human) 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis IEP D RGD:7257692|PMID:22341067 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:735300 D RGD:5134955|PMID:21330942 20110706 RGD Acute Lung Injury 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:735299 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9000310 Lung Injury IMP D RGD:7257705|PMID:15347560 20130830 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735300 D RGD:7257674|PMID:22791342 20130828 RGD associated with Diabetes Mellitus, Type 2 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia IMP D RGD:5129125|PMID:19283893 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735300 D RGD:7257694|PMID:19616545 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection IEP D RGD:7257690|PMID:22882432 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection IMP D RGD:7257683|PMID:15840022 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735299 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9004484 Sepsis ISO RGD:735299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17138957 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:735300 D RGD:7257703|PMID:17014919 20130830 RGD associated with Pancreatitis 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9004771 Vascular Remodeling ISO RGD:735299 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27678262 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9005372 Inflammation IMP D RGD:7257704|PMID:15516486 20130830 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9005372 Inflammation ISO RGD:735300 D RGD:7257673|PMID:23144964 20130828 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9005968 Neuralgia ISO RGD:735299 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9006180 WHIM Syndrome 2 ISO RGD:735299 D RGD:7240710 20210728 OMIM 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9006180 WHIM Syndrome 2 ISO RGD:735299 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: WHIM syndrome 2 PMID:24777453|PMID:25741868 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:735300 D RGD:7257679|PMID:20038794 20130829 RGD 2906 Cxcr2 C-X-C motif chemokine receptor 2 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735299 D RGD:7257684|PMID:14596426 20130829 RGD 2907 Il9r interleukin 9 receptor gene DOID:0112003 immunodeficiency 33 ISO RGD:735670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 2907 Il9r interleukin 9 receptor gene DOID:12849 autistic disorder ISO RGD:735670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2907 Il9r interleukin 9 receptor gene DOID:1485 cystic fibrosis ISO RGD:735670 D RGD:5128699|PMID:12782818 20110315 RGD protein:increased expression:respiratory system mucosa 2907 Il9r interleukin 9 receptor gene DOID:2841 asthma ISO RGD:735670 D RGD:5128704|PMID:10629460 20110315 RGD 2907 Il9r interleukin 9 receptor gene DOID:409 liver disease ISO RGD:735670 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 2907 Il9r interleukin 9 receptor gene DOID:9000998 Brain Injuries ISO RGD:735670 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 2907 Il9r interleukin 9 receptor gene DOID:9002720 Splenomegaly ISO RGD:735670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 2909 Kpnb1 karyopherin subunit beta 1 gene DOID:4001 ovarian carcinoma ISO RGD:737037 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 2909 Kpnb1 karyopherin subunit beta 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 2909 Kpnb1 karyopherin subunit beta 1 gene DOID:630 genetic disease ISO RGD:737037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2911 Ina internexin neuronal intermediate filament protein, alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2911 Ina internexin neuronal intermediate filament protein, alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:10806 D RGD:27226878|PMID:29967576 20201208 RGD 2911 Ina internexin neuronal intermediate filament protein, alpha gene DOID:630 genetic disease ISO RGD:69037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2911 Ina internexin neuronal intermediate filament protein, alpha gene DOID:9002189 High Myopia ISO RGD:69037 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 2911 Ina internexin neuronal intermediate filament protein, alpha gene DOID:9005125 Lupus Vasculitis, Central Nervous System severity ISO RGD:69037 D RGD:40886275|PMID:20559547 20201203 RGD 2912 Inha inhibin subunit alpha gene DOID:0111545 familial male-limited precocious puberty ISO RGD:736727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 2912 Inha inhibin subunit alpha gene DOID:10283 prostate cancer ISO RGd:736727 D RGD:2290384|PMID:9506758 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:10286 prostate carcinoma ISO RGD:736727 D RGD:2290381|PMID:11818495 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:1148 polydactyly ISO RGD:736727 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 2912 Inha inhibin subunit alpha gene DOID:192 sex cord-gonadal stromal tumor susceptibility ISO RGD:10808 D RGD:2301690|PMID:8090730 20081029 RGD 2912 Inha inhibin subunit alpha gene DOID:2696 Leydig cell tumor IEP D RGD:2290379|PMID:11545298 20080311 RGD protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats 2912 Inha inhibin subunit alpha gene DOID:2997 Sertoli-Leydig cell tumor ISO RGD:736727 D RGD:2290367|PMID:17414107 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:736727 D RGD:2290390|PMID:15583806 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:3308 embryonal carcinoma ISO RGD:736727 D RGD:2290380|PMID:11720904 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:3577 Sertoli cell tumor ISO RGD:10808 D RGD:2290369|PMID:10602485 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:4440 seminoma ISO RGD:736727 D RGD:2290380|PMID:11720904 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:4441 dysgerminoma ISO RGD:736727 D RGD:2290380|PMID:11720904 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:5426 primary ovarian insufficiency ISO RGD:736727 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868 2912 Inha inhibin subunit alpha gene DOID:630 genetic disease ISO RGD:736727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2912 Inha inhibin subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736727 D RGD:2301687|PMID:18413775 20081028 RGD DNA:SNP 2912 Inha inhibin subunit alpha gene DOID:9001205 Experimental Autoimmune Orchitis IEP D RGD:8694089|PMID:11431143 20140723 RGD protein:decreased expression:serum: 2912 Inha inhibin subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:736727 D RGD:2290383|PMID:10435065 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:736727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2912 Inha inhibin subunit alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGd:736727 D RGD:2290368|PMID:17143484 20080311 RGD 2912 Inha inhibin subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736727 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2912 Inha inhibin subunit alpha gene DOID:9007715 Endometrial Neoplasms ISO RGD:736727 D RGD:1579943|PMID:15745937 20081028 RGD mRNA:decreased expression:endometrium 2913 Inhbb inhibin subunit beta B gene DOID:0050328 congenital hypothyroidism IEP D RGD:9743921|PMID:7819453 20150220 RGD mRNA:decreased expression:testes (rat) 2913 Inhbb inhibin subunit beta B gene DOID:0111545 familial male-limited precocious puberty ISO RGD:735395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 2913 Inhbb inhibin subunit beta B gene DOID:630 genetic disease ISO RGD:735395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2913 Inhbb inhibin subunit beta B gene DOID:9000774 Brain Death IEP D RGD:9743920|PMID:15808645 20150220 RGD mRNA:increased expression:kidney (rat) 2913 Inhbb inhibin subunit beta B gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:329322881|PMID:27732750 20230424 RGD protein:increased expression:serum (rat) 2914 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:10652 Alzheimer's disease ISO RGD:1348251 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30320580 2914 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:5408 Paget's disease of bone ISS RGD:1551628 D RGD:13592920 20180518 MouseDO OMIM:167250 | OMIM:602080 | OMIM:606263 2914 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:630 genetic disease ISO RGD:1348251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2914 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2914 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:9004009 Reperfusion Injury ISO RGD:1348251 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25780291 2914 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:9074 systemic lupus erythematosus ISS RGD:1551628 D RGD:13592920 20191128 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 2915 Ins1 insulin 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1642400 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20007936|PMID:24411943|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28492532|PMID:30456822|PMID:33206859 2915 Ins1 insulin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1642400 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2915 Ins1 insulin 1 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1642400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:12610512|PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33206859 2915 Ins1 insulin 1 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1642400 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33206859 2915 Ins1 insulin 1 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21566073|PMID:21592955|PMID:21723250|PMID:22235272|PMID:22957706|PMID:23416061|PMID:23444373|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30191644|PMID:30414308|PMID:34593315 2915 Ins1 insulin 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1642400 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2915 Ins1 insulin 1 gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20301620|PMID:20948967|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 2915 Ins1 insulin 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1642400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 2915 Ins1 insulin 1 gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:11921414|PMID:12610512|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20007936|PMID:20226046|PMID:20948967|PMID:24411943|PMID:25423173|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28478482|PMID:28492532|PMID:30456822|PMID:32916194|PMID:33206859 2915 Ins1 insulin 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1642400 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2915 Ins1 insulin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1642400 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2915 Ins1 insulin 1 gene DOID:10652 Alzheimer's disease IEP D RGD:2298713|PMID:17448147 20080717 RGD mRNA:decreased expression:hippocampus 2915 Ins1 insulin 1 gene DOID:11717 neonatal diabetes ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 2915 Ins1 insulin 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1642400 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2915 Ins1 insulin 1 gene DOID:1596 depressive disorder ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:34352274 2915 Ins1 insulin 1 gene DOID:4195 hyperglycemia ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:26887929|PMID:28422052|PMID:29682576|PMID:32554039 2915 Ins1 insulin 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1642400 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868 2915 Ins1 insulin 1 gene DOID:630 genetic disease ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11921414|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:28492532|PMID:28848601|PMID:29073591 2915 Ins1 insulin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1642400 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2915 Ins1 insulin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:21558470 2915 Ins1 insulin 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:29682576 2915 Ins1 insulin 1 gene DOID:9001981 Weight Loss ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:29682576|PMID:34352274 2915 Ins1 insulin 1 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:1642400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 3 PMID:25741868|PMID:26154720|PMID:28848601|PMID:30152198|PMID:30400067 2915 Ins1 insulin 1 gene DOID:9002188 Hypoinsulinemia ISO RGD:1642400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 2915 Ins1 insulin 1 gene DOID:9003282 Hyperproinsulinemia ISO RGD:1642400 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:1601997|PMID:20034470|PMID:2196279|PMID:25741868|PMID:2991050|PMID:3057496|PMID:3306677|PMID:3470784|PMID:3511099|PMID:3537011|PMID:381941|PMID:4019786|PMID:6261753|PMID:6312455|PMID:6339950|PMID:6368587|PMID:6382002|PMID:7242673|PMID:7350438|PMID:8269791|PMID:8421693|PMID:8636380|PMID:9141561|PMID:9667398 2915 Ins1 insulin 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1642400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:12610512|PMID:18162506|PMID:20809526|PMID:22264700|PMID:24753243|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33206859 2915 Ins1 insulin 1 gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 2915 Ins1 insulin 1 gene DOID:9004590 Acute Liver Failure IEP D RGD:2298712|PMID:17097861 20080717 RGD mRNA:increased expression:pancreatic islet 2915 Ins1 insulin 1 gene DOID:9005219 Abnormal Reflexes ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:3525850 2915 Ins1 insulin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:2975197|PMID:3044883 2915 Ins1 insulin 1 gene DOID:9005749 Necrosis ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:9826672 2915 Ins1 insulin 1 gene DOID:9006253 Ketosis ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:29420703 2915 Ins1 insulin 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:6225876 2915 Ins1 insulin 1 gene DOID:9007001 Bradycardia ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: therapeutic PMID:3525850 2915 Ins1 insulin 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1642400 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 2915 Ins1 insulin 1 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20301620|PMID:20948967|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 2915 Ins1 insulin 1 gene DOID:9007692 Insulin Resistance ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:19586609 2915 Ins1 insulin 1 gene DOID:9256 colorectal cancer ISO RGD:1642400 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 2915 Ins1 insulin 1 gene DOID:9351 diabetes mellitus ISO RGD:1642400 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20226046|PMID:25542748|PMID:25741868|PMID:26101329 2915 Ins1 insulin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:19586609 2915 Ins1 insulin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1642400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 2915 Ins1 insulin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1642400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20133622|PMID:20226046|PMID:21592955|PMID:22235272|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30414308 2915 Ins1 insulin 1 gene DOID:9993 hypoglycemia ISO RGD:10811 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:222008|PMID:3084764|PMID:6797439|PMID:18545258 2916 Ins2 insulin 2 gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 2916 Ins2 insulin 2 gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:150340610|PMID:22151886 20210818 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood serum (human) 2916 Ins2 insulin 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20007936|PMID:22572540|PMID:24275212|PMID:24411943|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 2916 Ins2 insulin 2 gene DOID:0050524 maturity-onset diabetes of the young ISS RGD:10812 D RGD:13592920 20180518 MouseDO OMIM:606391 2916 Ins2 insulin 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 2916 Ins2 insulin 2 gene DOID:0050835 generalized dystonia ISO RGD:731056 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 2916 Ins2 insulin 2 gene DOID:0060319 cardiac arrest ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17449947 2916 Ins2 insulin 2 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 2916 Ins2 insulin 2 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21566073|PMID:21592955|PMID:21723250|PMID:22235272|PMID:22957706|PMID:23416061|PMID:23444373|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30191644|PMID:30414308|PMID:34593315 2916 Ins2 insulin 2 gene DOID:0060639 permanent neonatal diabetes mellitus ISS RGD:10812 D RGD:13592920 20210211 MouseDO OMIM:606176 2916 Ins2 insulin 2 gene DOID:0080000 muscular disease ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:496411 2916 Ins2 insulin 2 gene DOID:0080074 neural tube defect ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19446573 2916 Ins2 insulin 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731056 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 2916 Ins2 insulin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18948358 2916 Ins2 insulin 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:731056 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 2916 Ins2 insulin 2 gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:10812 D RGD:14401710|PMID:17911348 20190515 RGD DNA:missense mutation:cds:p.C96Y (mouse) 2916 Ins2 insulin 2 gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:7240710 20150805 OMIM 2916 Ins2 insulin 2 gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 2916 Ins2 insulin 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 2916 Ins2 insulin 2 gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:7240710 20150805 OMIM 2916 Ins2 insulin 2 gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:11921414|PMID:12610512|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20007936|PMID:20226046|PMID:20948967|PMID:24411943|PMID:25423173|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28478482|PMID:28492532|PMID:30456822|PMID:32916194|PMID:33206859 2916 Ins2 insulin 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:731056 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 2916 Ins2 insulin 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 2916 Ins2 insulin 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:731056 D RGD:13504777|PMID:27599544 20180123 RGD 2916 Ins2 insulin 2 gene DOID:10603 glucose intolerance ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21779873 2916 Ins2 insulin 2 gene DOID:10652 Alzheimer's disease IEP D RGD:2298713|PMID:17448147 20080717 RGD mRNA:decreased expression:cerebral cortex 2916 Ins2 insulin 2 gene DOID:10652 Alzheimer's disease ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9443474|PMID:15750215 2916 Ins2 insulin 2 gene DOID:1074 kidney failure ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8606734|PMID:9861226 2916 Ins2 insulin 2 gene DOID:10763 hypertension IDA D RGD:6902896|PMID:9095092 20120919 RGD 2916 Ins2 insulin 2 gene DOID:10763 hypertension ISO RGD:10812 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 2916 Ins2 insulin 2 gene DOID:10763 hypertension ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9719048|PMID:18360027 2916 Ins2 insulin 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2777199|PMID:11889176|PMID:16123091 2916 Ins2 insulin 2 gene DOID:11714 gestational diabetes ISO RGD:731056 D RGD:2311131|PMID:19269197 20090626 RGD protein:increased expression:serum 2916 Ins2 insulin 2 gene DOID:11717 neonatal diabetes ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 2916 Ins2 insulin 2 gene DOID:11717 neonatal diabetes ISS RGD:10812 D RGD:13592920 20201224 MouseDO 2916 Ins2 insulin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 2916 Ins2 insulin 2 gene DOID:12217 Lewy body dementia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2916 Ins2 insulin 2 gene DOID:14330 Parkinson's disease ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2916 Ins2 insulin 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731056 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 2916 Ins2 insulin 2 gene DOID:1561 cognitive disorder ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21911655 2916 Ins2 insulin 2 gene DOID:1793 pancreatic cancer ISO RGD:10812 D RGD:2317245|PMID:19628082 20100323 RGD 2916 Ins2 insulin 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731056 D RGD:2317253|PMID:19152242 20100324 RGD DNA:Polymorphism:promoter:-23 HphI (human) 2916 Ins2 insulin 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:2317247|PMID:19572116 20100323 RGD associated with Diabetes Mellitus, Non-Insulin-Depend 2916 Ins2 insulin 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:2317250|PMID:19375425 20100323 RGD associated with Diabetes Mellitus 2916 Ins2 insulin 2 gene DOID:1837 diabetic ketoacidosis ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11430560 2916 Ins2 insulin 2 gene DOID:1920 hyperuricemia ISO RGD:731056 D RGD:6902897|PMID:19033255 20120919 RGD 2916 Ins2 insulin 2 gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2991050|PMID:3511099|PMID:4019786|PMID:6382002 2916 Ins2 insulin 2 gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:1625121|PMID:9667398 20070522 RGD 2916 Ins2 insulin 2 gene DOID:2237 hepatitis ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 2916 Ins2 insulin 2 gene DOID:2975 cystic kidney disease ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9879822 2916 Ins2 insulin 2 gene DOID:3021 acute kidney failure ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 2916 Ins2 insulin 2 gene DOID:3312 bipolar disorder ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5506046 2916 Ins2 insulin 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731056 D RGD:2317248|PMID:19571666 20100323 RGD Glucagon/insulin 2916 Ins2 insulin 2 gene DOID:365 bladder disease ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2055425 2916 Ins2 insulin 2 gene DOID:3892 insulinoma ISO RGD:731056 D RGD:2317266|PMID:8175958 20100324 RGD protein:altered expression:blood 2916 Ins2 insulin 2 gene DOID:3892 insulinoma ISO RGD:731056 D RGD:2317268|PMID:2565624 20100324 RGD protein:altered localization:pancreas 2916 Ins2 insulin 2 gene DOID:409 liver disease ISO RGD:731056 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 2916 Ins2 insulin 2 gene DOID:4195 hyperglycemia ISO RGD:10812 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:18056790|PMID:29211853 2916 Ins2 insulin 2 gene DOID:4195 hyperglycemia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8660453|PMID:9861226 2916 Ins2 insulin 2 gene DOID:4500 hypokalemia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:496411 2916 Ins2 insulin 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731056 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 2916 Ins2 insulin 2 gene DOID:4989 pancreatitis ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17163263 2916 Ins2 insulin 2 gene DOID:557 kidney disease ISO RGD:10812 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 2916 Ins2 insulin 2 gene DOID:594 panic disorder ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12073167 2916 Ins2 insulin 2 gene DOID:6000 congestive heart failure ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 2916 Ins2 insulin 2 gene DOID:630 genetic disease ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11921414|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:28492532 2916 Ins2 insulin 2 gene DOID:657 adenoma ISO RGD:10812 D RGD:2317273|PMID:12917331 20100325 RGD protein:increased secretion:serum 2916 Ins2 insulin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731056 D RGD:9068941 20210820 RGD associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human) PMID:33132693|REF_RGD_ID:150340613 2916 Ins2 insulin 2 gene DOID:8398 osteoarthritis ISO RGD:731056 D RGD:10045857|PMID:2290165 20150618 RGD protein:increased expression:blood: 2916 Ins2 insulin 2 gene DOID:8947 diabetic retinopathy ISO RGD:10812 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30463601 2916 Ins2 insulin 2 gene DOID:8947 diabetic retinopathy ISO RGD:731056 D RGD:6902909|PMID:22046295 20120921 RGD 2916 Ins2 insulin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:5348156 2916 Ins2 insulin 2 gene DOID:9000197 Edema ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 2916 Ins2 insulin 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 2916 Ins2 insulin 2 gene DOID:9001542 Albuminuria ISO RGD:10812 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29420703 2916 Ins2 insulin 2 gene DOID:9001542 Albuminuria ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 2916 Ins2 insulin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26806094 2916 Ins2 insulin 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11872684 2916 Ins2 insulin 2 gene DOID:9001961 Hyperkalemia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8606734|PMID:20466255 2916 Ins2 insulin 2 gene DOID:9001981 Weight Loss ISO RGD:10812 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 2916 Ins2 insulin 2 gene DOID:9001981 Weight Loss ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22940631 2916 Ins2 insulin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2143390|PMID:7713310|PMID:7987072 2916 Ins2 insulin 2 gene DOID:9002165 Diabetic Nephropathies resistance IDA D RGD:6902908|PMID:22068113 20120921 RGD 2916 Ins2 insulin 2 gene DOID:9002188 Hypoinsulinemia ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 2916 Ins2 insulin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12610512 2916 Ins2 insulin 2 gene DOID:9002554 Tachycardia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1324617 2916 Ins2 insulin 2 gene DOID:9003242 Paresthesia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 2916 Ins2 insulin 2 gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:7240710 20171011 OMIM 2916 Ins2 insulin 2 gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:1601997|PMID:20034470|PMID:2196279|PMID:25741868|PMID:2991050|PMID:3057496|PMID:3306677|PMID:3470784|PMID:3511099|PMID:3537011|PMID:381941|PMID:4019786|PMID:6261753|PMID:6312455|PMID:6339950|PMID:6368587|PMID:6382002|PMID:7242673|PMID:7350438|PMID:8269791|PMID:8421693|PMID:8636380|PMID:9141561|PMID:9667398 2916 Ins2 insulin 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20809526|PMID:22264700|PMID:22572540|PMID:24275212|PMID:24753243|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 2916 Ins2 insulin 2 gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 2916 Ins2 insulin 2 gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:7240710 20200520 OMIM 2916 Ins2 insulin 2 gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:34593315 2916 Ins2 insulin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731056 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:24587105 2916 Ins2 insulin 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12639207 2916 Ins2 insulin 2 gene DOID:9005246 Paralysis ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7433326 2916 Ins2 insulin 2 gene DOID:9006024 Hypotension ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:48835|PMID:1324617|PMID:7418494 2916 Ins2 insulin 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 2916 Ins2 insulin 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11274935|PMID:16259526 2916 Ins2 insulin 2 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:731056 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27884723|PMID:30266311 2916 Ins2 insulin 2 gene DOID:9006854 MPTP Poisoning ISO RGD:731056 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:26364587 2916 Ins2 insulin 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20828608 2916 Ins2 insulin 2 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:34593315 2916 Ins2 insulin 2 gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:11522680|PMID:24648896|PMID:25796170|PMID:33651899 2916 Ins2 insulin 2 gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:2311112|PMID:3322910 20090625 RGD 2916 Ins2 insulin 2 gene DOID:9008023 Memory Disorders ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9264093 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:10812 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19775285 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:10812 D RGD:2311115|PMID:16799061 20090625 RGD DNA:point mutation (mouse) 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2055425|PMID:7294224|PMID:7624867|PMID:8400068|PMID:11446671|PMID:15628829|PMID:17855560|PMID:18162506 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:2311109|PMID:19537357 20090625 RGD 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:2317259|PMID:17855560 20100324 RGD DNA, protein:missense mutations:exons:multiple 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:2317260|PMID:20034470 20100324 RGD protein:altered localization :endoplasmic reticulum 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:2317262|PMID:18451997 20100324 RGD DNA, protein:missense mutations, altered processing:exons, endoplasmic reticulum:multiple 2916 Ins2 insulin 2 gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20226046|PMID:25542748|PMID:25741868|PMID:26101329 2916 Ins2 insulin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:3511099|PMID:7573102|PMID:11522680|PMID:11978674|PMID:15531508|PMID:16259526|PMID:16519038|PMID:21680998|PMID:21779873|PMID:23349674 2916 Ins2 insulin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:1625120|PMID:1569197 20070522 RGD 2916 Ins2 insulin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:2311112|PMID:3322910 20090625 RGD 2916 Ins2 insulin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 2916 Ins2 insulin 2 gene DOID:9452 fatty liver disease ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9048448 2916 Ins2 insulin 2 gene DOID:9452 fatty liver disease ISO RGD:731056 D RGD:2311137|PMID:18713300 20090626 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10812 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:17151334|PMID:29420703 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10812 D RGD:150340614|PMID:15236749 20210818 RGD 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20620209 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:150340607|PMID:16552513 20210818 RGD DNA:SNP:promoter:-23A>T (rs689) (human) 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:150340611|PMID:17284223 20210818 RGD associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter (human) 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:2311114|PMID:18824271 20090625 RGD 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20133622|PMID:20226046|PMID:21592955|PMID:22235272|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30414308 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:731056 D RGD:150340608|PMID:20535137 20210818 RGD associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human) 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:150340605|PMID:21765853 20210818 RGD human protein in a mouse model 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:150340606|PMID:17284779 20210818 RGD human gene in a mouse model 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:150340612|PMID:26783749 20210818 RGD human protein in a mouse model 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:150340615|PMID:16382177 20210818 RGD human gene in a mouse model 2916 Ins2 insulin 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:150340616|PMID:16113600 20210818 RGD human gene in a mouse model 2916 Ins2 insulin 2 gene DOID:9970 obesity ISO RGD:731056 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:2777199|PMID:8923850|PMID:11528401|PMID:29035695 2916 Ins2 insulin 2 gene DOID:9993 hypoglycemia ISO RGD:731056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:48835|PMID:1324617|PMID:1646414|PMID:1890151|PMID:2554359|PMID:20620209|PMID:22940631 2917 Insr insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18411068 2917 Insr insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:7240710 20130221 OMIM 2917 Insr insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:12023989|PMID:12970295|PMID:1315125|PMID:1607067|PMID:1657953|PMID:1730625|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2211730|PMID:22775283|PMID:2300553|PMID:2365819|PMID:24033266|PMID:24498630|PMID:2479553|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:2834824|PMID:28492532|PMID:29369573|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3280314|PMID:7042734|PMID:7657032|PMID:7693131|PMID:7815442|PMID:8101305|PMID:8188715|PMID:8257688|PMID:8314008|PMID:8326490|PMID:8419945|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:0050700 cardiomyopathy ISO RGD:10813 D RGD:1302524|PMID:11877471 19990101 RGD 2917 Insr insulin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:69029 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2917 Insr insulin receptor gene DOID:0060071 pre-malignant neoplasm IEP D RGD:10403043|PMID:21411721 20151105 RGD associated with Carcinoma, Hepatocellular 2917 Insr insulin receptor gene DOID:0060346 Native American myopathy ISO RGD:69029 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA PMID:10084586|PMID:11463381|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:27896077|PMID:28492532|PMID:7042734|PMID:8288049 2917 Insr insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 2917 Insr insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:7240710 20130221 OMIM 2917 Insr insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 2917 Insr insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility IMP D RGD:14700929|PMID:28468951 20190827 RGD DNA:deletion:cds:codon 306 in exon 4 (mouse) 2917 Insr insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:10813 D RGD:14700929|PMID:28468951 20191120 RGD DNA:deletion:cds: (codon 306, exon 4) (mouse) 2917 Insr insulin receptor gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:14700932|PMID:29325294 20190827 RGD 2917 Insr insulin receptor gene DOID:0080490 mucolipidosis type IV ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 2917 Insr insulin receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:31989990|PMID:7814014|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:10485 esophageal atresia ISO RGD:69029 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 2917 Insr insulin receptor gene DOID:10603 glucose intolerance ISO RGD:10813 D RGD:1302523|PMID:10949030 19990101 RGD 2917 Insr insulin receptor gene DOID:10603 glucose intolerance ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10949030 2917 Insr insulin receptor gene DOID:10605 short bowel syndrome treatment IEP D RGD:10403044|PMID:19847442 20151105 RGD 2917 Insr insulin receptor gene DOID:10652 Alzheimer's disease IEP D RGD:5509963|PMID:16627931 20151109 RGD mRNA:decreased expression:brain 2917 Insr insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:10045894|PMID:18479783 20151104 RGD protein:altered localization:brain, neuron 2917 Insr insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 2917 Insr insulin receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10813 D RGD:10403036|PMID:23011726 20151104 RGD 2917 Insr insulin receptor gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:10813 D RGD:1302525|PMID:14722613 19990101 RGD 2917 Insr insulin receptor gene DOID:11714 gestational diabetes IEP D RGD:10046048|PMID:22241286 20150702 RGD 2917 Insr insulin receptor gene DOID:11714 gestational diabetes ISO RGD:69029 D RGD:2307336|PMID:19179458 20090528 RGD mRNA, protein:increased expression:placenta (human) 2917 Insr insulin receptor gene DOID:12217 Lewy body dementia ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2917 Insr insulin receptor gene DOID:13413 hepatic encephalopathy IEP D RGD:14700777|PMID:28505381 20190828 RGD protein:decreased expression:hippocampus, cerebral cortex (rat) 2917 Insr insulin receptor gene DOID:14330 Parkinson's disease ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 2917 Insr insulin receptor gene DOID:1612 breast cancer ISO RGD:69029 D RGD:2290465|PMID:8518410 20080313 RGD 2917 Insr insulin receptor gene DOID:1612 breast cancer severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:higher expression associated with favorable prognostic markers and increased disease-free survival (P=0.027) PMID:17221153|REF_RGD_ID:2290447 2917 Insr insulin receptor gene DOID:1837 diabetic ketoacidosis ISO RGD:10813 D RGD:1302526|PMID:15254588 19990101 RGD 2917 Insr insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:10403034|PMID:21549686 20151104 RGD DNA:missense mutation: :p.P1195L (mouse) 2917 Insr insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:1302523|PMID:10949030 19990101 RGD 2917 Insr insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10949030|PMID:18411068 2917 Insr insulin receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:69029 D RGD:13504753|PMID:26452103 20180122 RGD 2917 Insr insulin receptor gene DOID:303 substance-related disorder ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 2917 Insr insulin receptor gene DOID:3594 choriocarcinoma disease_progression ISO RGD:69029 D RGD:2290454|PMID:17556377 20080313 RGD 2917 Insr insulin receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21433279 2917 Insr insulin receptor gene DOID:4195 hyperglycemia ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 2917 Insr insulin receptor gene DOID:4440 seminoma ISO RGD:69029 D RGD:2290460|PMID:15967097 20080313 RGD 2917 Insr insulin receptor gene DOID:4450 renal cell carcinoma ISO RGD:69029 D RGD:2290462|PMID:15753986 20080313 RGD 2917 Insr insulin receptor gene DOID:630 genetic disease ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688 2917 Insr insulin receptor gene DOID:684 hepatocellular carcinoma IEP D RGD:9685423|PMID:23633480 20190827 RGD mRNA, protein:increased expression:liver (human, rat) 2917 Insr insulin receptor gene DOID:684 hepatocellular carcinoma IMP D RGD:14700930|PMID:29610518 20190827 RGD human cells in a mouse model 2917 Insr insulin receptor gene DOID:784 chronic kidney disease IDA D RGD:7207055|PMID:22942179 20151105 RGD protein:decreased phosphorylation:aorta 2917 Insr insulin receptor gene DOID:811 lipodystrophy ISO RGD:10813 D RGD:1302525|PMID:14722613 19990101 RGD 2917 Insr insulin receptor gene DOID:850 lung disease ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20438933|PMID:21433279 2917 Insr insulin receptor gene DOID:8947 diabetic retinopathy ISS RGD:10813 D RGD:13592920 20220811 MouseDO 2917 Insr insulin receptor gene DOID:9001586 Experimental Liver Neoplasms disease_progression IEP D RGD:2306052|PMID:15520221 20190904 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cytoplasm,liver (rat) 2917 Insr insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:7240710 20130221 OMIM 2917 Insr insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A PMID:10084586|PMID:10933564|PMID:11463381|PMID:13302174|PMID:15161766|PMID:1644241|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:7240710 20190918 OMIM 2917 Insr insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities | ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2211730|PMID:2233914|PMID:22775283|PMID:2365819|PMID:23969187|PMID:24033266|PMID:25358339|PMID:25741868|PMID:26691667|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:29082893|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3721065|PMID:7042734|PMID:7657032|PMID:8257688|PMID:8314008|PMID:8432414|PMID:8900242|PMID:9249867|PMID:9449692 2917 Insr insulin receptor gene DOID:9002211 Hyperalgesia ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 2917 Insr insulin receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:10813 D RGD:10403050|PMID:23511693 20151105 RGD associated with Diabetic Neuropathies 2917 Insr insulin receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69029 D RGD:2290446|PMID:18042933 20080313 RGD 2917 Insr insulin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 2917 Insr insulin receptor gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:69029 D RGD:10403033|PMID:22629383 20151104 RGD protein:increased expression:cerebrospinal fluid, plasma 2917 Insr insulin receptor gene DOID:9004989 Protein Deficiency treatment IEP D RGD:4107735|PMID:19880292 20191008 RGD 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2307025|PMID:18638371 20090528 RGD mRNA, protein:increased expression:liver, adipose tissue (rat) 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2307339|PMID:18376071 20090528 RGD protein:decreased expression:erythrocyte (rat) 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:14981592|PMID:2180315 20191008 RGD associated with streptozocin;protein:altered activity:liver plasma membrane (rat) 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2290475|PMID:17855644 20080313 RGD protein:decreased expression:kidney 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9243097|PMID:22138235 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus disease_progression IEP D RGD:15036814|PMID:1280238 20191120 RGD mRNA:increased expression:liver nuclei, liver cell membrane (rat) 2917 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69029 D RGD:10403045|PMID:23874448 20151105 RGD 2917 Insr insulin receptor gene DOID:9007692 Insulin Resistance ISO RGD:10813 D RGD:1302523|PMID:10949030 19990101 RGD 2917 Insr insulin receptor gene DOID:9007692 Insulin Resistance ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10949030|PMID:11887975 2917 Insr insulin receptor gene DOID:9007692 Insulin Resistance ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:10084586|PMID:10933564|PMID:11463381|PMID:1314826|PMID:13302174|PMID:15161766|PMID:1644241|PMID:1890161|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8202531|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:9007692 Insulin Resistance disease_progression IEP D RGD:11529553|PMID:26300412 20191120 RGD mRNA, protein:decreased expression:liver (rat) 2917 Insr insulin receptor gene DOID:9007692 Insulin Resistance treatment IEP D RGD:10403037|PMID:23538485 20151104 RGD 2917 Insr insulin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:69029 D RGD:2290447|PMID:17221153 20080313 RGD 2917 Insr insulin receptor gene DOID:9351 diabetes mellitus ISO RGD:69029 D RGD:2307343|PMID:18925540 20090528 RGD DNA:deletions, missense mutation:multiple (human) 2917 Insr insulin receptor gene DOID:9351 diabetes mellitus ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10084586|PMID:11463381|PMID:2040394|PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2307341|PMID:17050616 20090528 RGD 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2290475|PMID:17855644 20110705 RGD protein:decreased expression:kidney 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus IMP D RGD:2307333|PMID:19340286 20090528 RGD 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus IMP D RGD:2314405|PMID:19017805 20200227 RGD 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10813 D RGD:2307334|PMID:19251743 20090528 RGD protein:increased serine phosphorylation, increased protein binding:liver 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69029 D RGD:2307342|PMID:18972094 20090528 RGD protein:decreased phosphorylation:vastus lateralis:phosphotyrosine (human) 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:1845971|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:2884728|PMID:31989990|PMID:4413914|PMID:7814014|PMID:8432414|PMID:8900242 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:10403046|PMID:23700236 20151105 RGD 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:2307334|PMID:19251743 20090528 RGD 2917 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10813 D RGD:2307335|PMID:19224872 20090528 RGD 2917 Insr insulin receptor gene DOID:9452 fatty liver disease IEP D RGD:14700935|PMID:22546076 20190828 RGD protein:decreased phosphorylation: liver (rat) 2917 Insr insulin receptor gene DOID:9452 fatty liver disease treatment IEP D RGD:14700926|PMID:25160038 20190827 RGD 2917 Insr insulin receptor gene DOID:9452 fatty liver disease treatment IMP D RGD:14701028|PMID:30642871 20190904 RGD associated with obesity;human gene in mouse model 2917 Insr insulin receptor gene DOID:9743 diabetic neuropathy IDA D RGD:2307344|PMID:18331706 20090528 RGD associated with Diabetes Mellitus, Experimental;protein:decreased phosphorylation:sciatic nerve 2917 Insr insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:69029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 2920 Irf1 interferon regulatory factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2920 Irf1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:7240710 20220209 OMIM 2920 Irf1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:9679752 2920 Irf1 interferon regulatory factor 1 gene DOID:11204 allergic conjunctivitis IEP D RGD:5128787|PMID:14605445 20110316 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:1273 respiratory syncytial virus infectious disease IEP D RGD:5128775|PMID:20045913 20110316 RGD protein:increased expression:dorsal root ganglion 2920 Irf1 interferon regulatory factor 1 gene DOID:1485 cystic fibrosis ISO RGD:10815 D RGD:5128720|PMID:10930443 20110315 RGD protein:decreased expression:intestine epithelium, nasal cavity epithelium 2920 Irf1 interferon regulatory factor 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:10815 D RGD:40902828|PMID:11861827 20201213 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:2841 asthma ISO RGD:735989 D RGD:5128723|PMID:10225979 20110315 RGD protein:increased expression:respiratory tract epithelium 2920 Irf1 interferon regulatory factor 1 gene DOID:2841 asthma no_association ISO RGD:735989 D RGD:5128726|PMID:11069564 20110315 RGD DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) 2920 Irf1 interferon regulatory factor 1 gene DOID:2841 asthma susceptibility ISO RGD:735989 D RGD:5128724|PMID:16961714 20110315 RGD DNA:repeat:intron (human) 2920 Irf1 interferon regulatory factor 1 gene DOID:2870 endometrial adenocarcinoma IAGP D RGD:5128782|PMID:19075038 20110316 RGD DNA:deletions (rat) 2920 Irf1 interferon regulatory factor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:10815 D RGD:5128719|PMID:11083808 20110315 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735989 D RGD:1600013|PMID:9679752 20070226 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735989 D RGD:1600014|PMID:10395927 20070226 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735989 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10395927 2920 Irf1 interferon regulatory factor 1 gene DOID:5199 ureteral obstruction IEP D RGD:2317694|PMID:12787392 20110316 RGD mRNA:increased expression:kidney 2920 Irf1 interferon regulatory factor 1 gene DOID:630 genetic disease ISO RGD:735989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2920 Irf1 interferon regulatory factor 1 gene DOID:850 lung disease IEP D RGD:5128716|PMID:11880315 20110315 RGD associated with Endotoxemia 2920 Irf1 interferon regulatory factor 1 gene DOID:8736 smallpox treatment ISO RGD:735989 D RGD:42722608|PMID:18454680 20210303 RGD DNA:SNPs,haplotype: :rs839, rs9282763(human) 2920 Irf1 interferon regulatory factor 1 gene DOID:874 bacterial pneumonia ISO RGD:10815 D RGD:5128725|PMID:11854220 20110315 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2298928|PMID:11723173 20110316 RGD 2920 Irf1 interferon regulatory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735989 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism 2920 Irf1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries IEP D RGD:2317873|PMID:12503083 20110316 RGD mRNA:increased expression:cerebral cortex 2920 Irf1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:735989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2920 Irf1 interferon regulatory factor 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:632385|PMID:12437578 20110316 RGD mRNA:increased expression:cerebral cortex 2920 Irf1 interferon regulatory factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735989 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2920 Irf1 interferon regulatory factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735989 D RGD:7240710 20130221 OMIM 2920 Irf1 interferon regulatory factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2920 Irf1 interferon regulatory factor 1 gene DOID:9007096 Stroke ISO RGD:735989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 2920 Irf1 interferon regulatory factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2920 Irf1 interferon regulatory factor 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:10815 D RGD:5128721|PMID:10497103 20110315 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9466558 2922 Irs1 insulin receptor substrate 1 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:6483014|PMID:20846698 20120509 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease IEP D RGD:10045939|PMID:22527777 20150624 RGD protein:decreased expression:hippocampus: 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:10816 D RGD:6482861|PMID:22476196 20120508 RGD protein:increased serine phosphorylation:hippocampus 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:733473 D RGD:6482860|PMID:22476197 20120508 RGD protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:10045894|PMID:18479783 20150623 RGD protein:altered expression:temporal cortex: 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:10045932|PMID:24589556 20150624 RGD DNA:SNP:cds:rs1801278(human) 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10816 D RGD:10045935|PMID:23660953 20150624 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10816 D RGD:10403036|PMID:23011726 20151104 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:11476 osteoporosis IEP D RGD:7207063|PMID:22820932 20130117 RGD mRNA, protein:decreased expression:multiple 2922 Irs1 insulin receptor substrate 1 gene DOID:1168 familial hyperlipidemia ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 2922 Irs1 insulin receptor substrate 1 gene DOID:2018 hyperinsulinism ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19734900 2922 Irs1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 2922 Irs1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:1624974|PMID:10591678 20070515 RGD DNA:polymorphism:exon:G972R 2922 Irs1 insulin receptor substrate 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733473 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 2922 Irs1 insulin receptor substrate 1 gene DOID:630 genetic disease ISO RGD:733473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2922 Irs1 insulin receptor substrate 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1311924|PMID:23958494 2922 Irs1 insulin receptor substrate 1 gene DOID:783 end stage renal disease IDA D RGD:7207055|PMID:22942179 20130117 RGD protein:decreased tyrosine phosphorylation:aorta 2922 Irs1 insulin receptor substrate 1 gene DOID:9000528 Coronary Disease ISO RGD:733473 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 2922 Irs1 insulin receptor substrate 1 gene DOID:9000528 Coronary Disease ISO RGD:733473 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 2922 Irs1 insulin receptor substrate 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:8661261|PMID:22995397 20150623 RGD mRNA,protein:decreased expression:growth plate: 2922 Irs1 insulin receptor substrate 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15678496 2922 Irs1 insulin receptor substrate 1 gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:733473 D RGD:10403033|PMID:22629383 20151104 RGD protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte 2922 Irs1 insulin receptor substrate 1 gene DOID:9004484 Sepsis IDA D RGD:6482862|PMID:19781177 20120508 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:gastrocnemius 2922 Irs1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7207063|PMID:22820932 20130117 RGD mRNA, protein:decreased expression:multiple 2922 Irs1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 2922 Irs1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7207061|PMID:22983684 20130117 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:9005930 Endotoxemia ISO RGD:10816 D RGD:6483008|PMID:21206533 20120509 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle 2922 Irs1 insulin receptor substrate 1 gene DOID:9006646 Metabolic Syndrome IEP D RGD:6482864|PMID:10842668 20120508 RGD protein:decreased expression:skeletal muscle 2922 Irs1 insulin receptor substrate 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 2922 Irs1 insulin receptor substrate 1 gene DOID:9007692 Insulin Resistance ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19734900 2922 Irs1 insulin receptor substrate 1 gene DOID:9007692 Insulin Resistance ISO RGD:733473 D RGD:1624973|PMID:7623569 20070515 RGD DNA:polymorphism:exon:G972R 2922 Irs1 insulin receptor substrate 1 gene DOID:9007692 Insulin Resistance ISO RGD:733473 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 2922 Irs1 insulin receptor substrate 1 gene DOID:9351 diabetes mellitus ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:6483015|PMID:19996384 20120509 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:6483016|PMID:22001674 20120509 RGD 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:8104271|PMID:8723689|PMID:10430617|PMID:12679424|PMID:15688983|PMID:19734900|PMID:28869590 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:1624975|PMID:12679424 20070515 RGD DNA:point mutation:exon:T608R 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:7207057|PMID:14633864 20130117 RGD DNA:SNP:promoter:-446G>A, -7120G>A (human) 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 2922 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733473 D RGD:6482863|PMID:15561966 20120508 RGD DNA:polymorphisms: :p.P512A, p.G971R (human) 2922 Irs1 insulin receptor substrate 1 gene DOID:9970 obesity IDA D RGD:7207062|PMID:22982470 20130117 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle 2922 Irs1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:733473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 2923 Itga1 integrin subunit alpha 1 gene DOID:0080600 COVID-19 ISO RGD:69006 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2923 Itga1 integrin subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:69006 D RGD:2302120|PMID:9408292 20081119 RGD protein:decreased expression:tumor:down-regulated in tumors lacking a basement membrane (human) 2923 Itga1 integrin subunit alpha 1 gene DOID:2349 arteriosclerosis ISO RGD:69007 D RGD:2302133|PMID:15976328 20081120 RGD atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice (mouse) 2923 Itga1 integrin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:69006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2923 Itga1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia IMP D RGD:2302139|PMID:15836982 20081120 RGD knock-down using a specific monoclonal antibody or RNAi 2923 Itga1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia IMP D RGD:2302389|PMID:14984413 20081215 RGD PGE2-induced 2923 Itga1 integrin subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69006 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2923 Itga1 integrin subunit alpha 1 gene DOID:9007402 Gliosis ISO RGD:69006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 2923 Itga1 integrin subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69006 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 2925 Itga5 integrin subunit alpha 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1351478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 2925 Itga5 integrin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1351478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2925 Itga5 integrin subunit alpha 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 2925 Itga5 integrin subunit alpha 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351478 D RGD:38500244|PMID:25593290 20200924 RGD mRNA:increased expression:lung 2925 Itga5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia IMP D RGD:2302139|PMID:15836982 20081120 RGD knock-down using a specific monoclonal antibody or RNAi 2925 Itga5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia IMP D RGD:2302389|PMID:14984413 20081215 RGD epinephrine-induced 2925 Itga5 integrin subunit alpha 5 gene DOID:9004009 Reperfusion Injury ISO RGD:1351478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2925 Itga5 integrin subunit alpha 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 2925 Itga5 integrin subunit alpha 5 gene DOID:9007402 Gliosis ISO RGD:1351478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 2926 Itgam integrin subunit alpha M gene DOID:0060189 ileitis ISO RGD:1343608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10647630 2926 Itgam integrin subunit alpha M gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 2926 Itgam integrin subunit alpha M gene DOID:0080162 lupus nephritis ISO RGD:1343608 D RGD:5147916|PMID:21719445 20130128 RGD 2926 Itgam integrin subunit alpha M gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1343608 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 2926 Itgam integrin subunit alpha M gene DOID:10952 nephritis ISO RGD:732433 D RGD:7207258|PMID:21900205 20130128 RGD 2926 Itgam integrin subunit alpha M gene DOID:2018 hyperinsulinism ISO RGD:1343608 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 2926 Itgam integrin subunit alpha M gene DOID:2921 glomerulonephritis ISO RGD:732433 D RGD:6907051|PMID:19752320 20130129 RGD 2926 Itgam integrin subunit alpha M gene DOID:3042 allergic contact dermatitis ISO RGD:1343608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 2926 Itgam integrin subunit alpha M gene DOID:4195 hyperglycemia ISO RGD:1343608 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 2926 Itgam integrin subunit alpha M gene DOID:630 genetic disease ISO RGD:1343608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2926 Itgam integrin subunit alpha M gene DOID:9000522 Invasive Candidiasis ISO RGD:732433 D RGD:7207265|PMID:21063074 20130128 RGD protein: increased expression: kidney 2926 Itgam integrin subunit alpha M gene DOID:9002955 Nerve Degeneration ISO RGD:1343608 D RGD:11554173 20201106 CTD CTD Direct Evidence: therapeutic PMID:32375810 2926 Itgam integrin subunit alpha M gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:1343608 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 2926 Itgam integrin subunit alpha M gene DOID:9005968 Neuralgia IEP D RGD:1342461|PMID:15145554 20121214 RGD mRNA:increased expression:lumbar vertebra 2926 Itgam integrin subunit alpha M gene DOID:9007692 Insulin Resistance ISO RGD:1343608 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 2926 Itgam integrin subunit alpha M gene DOID:9074 systemic lupus erythematosus ISO RGD:1343608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204446|PMID:18204448 2926 Itgam integrin subunit alpha M gene DOID:9074 systemic lupus erythematosus ISO RGD:1343608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 6 PMID:25741868|PMID:28492532 2926 Itgam integrin subunit alpha M gene DOID:9970 obesity ISO RGD:1343608 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 2927 Itgb1 integrin subunit beta 1 gene DOID:0050700 cardiomyopathy ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 2927 Itgb1 integrin subunit beta 1 gene DOID:0080074 neural tube defect ISO RGD:736631 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 2927 Itgb1 integrin subunit beta 1 gene DOID:0081292 traumatic brain injury ISO RGD:736631 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 2927 Itgb1 integrin subunit beta 1 gene DOID:10485 esophageal atresia ISO RGD:736631 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 2927 Itgb1 integrin subunit beta 1 gene DOID:10487 Hirschsprung's disease ISS RGD:733764 D RGD:13592920 20180518 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 2927 Itgb1 integrin subunit beta 1 gene DOID:10908 hydrocephalus IMP D RGD:2325325|PMID:19726708 20100601 RGD 2927 Itgb1 integrin subunit beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 2927 Itgb1 integrin subunit beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 2927 Itgb1 integrin subunit beta 1 gene DOID:182 calcinosis ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 2927 Itgb1 integrin subunit beta 1 gene DOID:289 endometriosis ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 2927 Itgb1 integrin subunit beta 1 gene DOID:2921 glomerulonephritis IEP D RGD:2325666|PMID:19662603 20100604 RGD protein:decreased expression:glomerulus (rat) 2927 Itgb1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21478906 2927 Itgb1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:13792830|PMID:28537888 20181002 RGD mRNA:increased expression:lung 2927 Itgb1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:736631 D RGD:13792831|PMID:21063403 20181002 RGD 2927 Itgb1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:736631 D RGD:13792832|PMID:12168902 20181002 RGD 2927 Itgb1 integrin subunit beta 1 gene DOID:5844 myocardial infarction treatment IMP D RGD:13602094|PMID:28367125 20180530 RGD 2927 Itgb1 integrin subunit beta 1 gene DOID:6000 congestive heart failure ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 2927 Itgb1 integrin subunit beta 1 gene DOID:630 genetic disease ISO RGD:736631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2927 Itgb1 integrin subunit beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736631 D RGD:13792830|PMID:28537888 20181002 RGD associated with non-small cell lung carcinoma, 2927 Itgb1 integrin subunit beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23562787 2927 Itgb1 integrin subunit beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2927 Itgb1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia IMP D RGD:2302139|PMID:15836982 20081120 RGD knock-down using a specific monoclonal antibody or RNAi 2927 Itgb1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia IMP D RGD:2302389|PMID:14984413 20110711 RGD 2927 Itgb1 integrin subunit beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 2927 Itgb1 integrin subunit beta 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325322|PMID:20187441 20100601 RGD protein:decreased expression:epidermal stem cell (rat) 2927 Itgb1 integrin subunit beta 1 gene DOID:9007402 Gliosis ISO RGD:736631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 2928 Itgb4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7545057|PMID:18348258 2928 Itgb4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:7240710 20131030 OMIM 2928 Itgb4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11251584|PMID:11328943|PMID:11886501|PMID:12485428|PMID:16473856|PMID:17576681|PMID:18348258|PMID:18955862|PMID:20301304|PMID:20301336|PMID:23013259|PMID:23496044|PMID:24033266|PMID:25741868|PMID:26739954|PMID:28492532|PMID:6177243|PMID:7545057|PMID:9536098|PMID:9546354|PMID:9674902|PMID:9792864|PMID:9892956 2928 Itgb4 integrin subunit beta 4 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 2928 Itgb4 integrin subunit beta 4 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISS RGD:733258 D RGD:13592920 20220512 MouseDO OMIM:226650 2928 Itgb4 integrin subunit beta 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2928 Itgb4 integrin subunit beta 4 gene DOID:1184 nephrotic syndrome ISO RGD:733257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532 2928 Itgb4 integrin subunit beta 4 gene DOID:14695 galactokinase deficiency ISO RGD:733257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10790206|PMID:25741868|PMID:28492532 2928 Itgb4 integrin subunit beta 4 gene DOID:2121 ectodermal dysplasia ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 2928 Itgb4 integrin subunit beta 4 gene DOID:2661 myoepithelioma ISO RGD:733257 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 2928 Itgb4 integrin subunit beta 4 gene DOID:2730 epidermolysis bullosa ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 2928 Itgb4 integrin subunit beta 4 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7545057 2928 Itgb4 integrin subunit beta 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733257 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27107458 2928 Itgb4 integrin subunit beta 4 gene DOID:630 genetic disease ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2928 Itgb4 integrin subunit beta 4 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 2928 Itgb4 integrin subunit beta 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2928 Itgb4 integrin subunit beta 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 2928 Itgb4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:7240710 20220608 OMIM 2928 Itgb4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:10792571|PMID:12485428|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 2928 Itgb4 integrin subunit beta 4 gene DOID:9007402 Gliosis ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 2928 Itgb4 integrin subunit beta 4 gene DOID:9007499 Pyloric Atresia ISO RGD:733257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7545057|PMID:18348258 2929 Itgb7 integrin subunit beta 7 gene DOID:630 genetic disease ISO RGD:1343409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2932 Itpkb inositol-trisphosphate 3-kinase B gene DOID:1540 parathyroid carcinoma ISO RGD:1345915 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2932 Itpkb inositol-trisphosphate 3-kinase B gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345915 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:35101336 2932 Itpkb inositol-trisphosphate 3-kinase B gene DOID:630 genetic disease ISO RGD:1345915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2932 Itpkb inositol-trisphosphate 3-kinase B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345915 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050441 mucosulfatidosis ISO RGD:732978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:28492532 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732978 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050952 spastic ataxia ISO RGD:732978 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986007 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:6480683|PMID:21555639 20120330 RGD DNA:deletions:multiple (human) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:6480871|PMID:20082166 20120406 RGD DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:7240710 20130425 OMIM 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:732978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:14981189|PMID:17932120|PMID:18579805|PMID:20669319|PMID:21681106|PMID:24091540|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29925855|PMID:31632679|PMID:34008892 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986007 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:7240710 20130731 OMIM 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0050978 spinocerebellar ataxia type 29 ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 29 PMID:10664581|PMID:15623688|PMID:23806086|PMID:24088041|PMID:24091540|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25794864|PMID:25981959|PMID:26257172|PMID:26467025|PMID:27062503|PMID:27108798|PMID:27572814|PMID:28488678|PMID:28492532|PMID:28620721|PMID:28659154|PMID:28826917|PMID:29389947|PMID:29925855|PMID:30778698|PMID:31632679|PMID:32499604|PMID:33163565|PMID:35351177 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0060319 cardiac arrest IEP D RGD:6480675|PMID:21859719 20120330 RGD protein:increased expression:cerebellum (rat) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732978 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:27108798|PMID:32499604 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0070111 Niemann-Pick disease type A disease_progression ISO RGD:10821 D RGD:6482797|PMID:16277603 20120503 RGD protein:decreased expression:cerebellum (mouse) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0111578 Gillespie syndrome ISO RGD:732978 D RGD:7240710 20190315 OMIM 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:0111578 Gillespie syndrome ISO RGD:732978 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:10664581|PMID:17558851|PMID:17576681|PMID:21465660|PMID:24091540|PMID:25741868|PMID:25794864|PMID:26467025|PMID:27062503|PMID:27108797|PMID:27108798|PMID:27391121|PMID:27862915|PMID:28492532|PMID:28659154|PMID:28826917|PMID:29169895|PMID:29482223|PMID:29925855|PMID:30564305|PMID:32499604|PMID:7952360|PMID:9536098 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:1059 intellectual disability ISO RGD:732978 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:10652 Alzheimer's disease ISO RGD:732978 D RGD:6482821|PMID:8819138 20120504 RGD protein:decreased expression:temporal cortex, frontal cortex (human) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:12858 Huntington's disease IEP D RGD:6483009|PMID:9761455 20120509 RGD protein:decreased expression:neostriatum (rat) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:12858 Huntington's disease ISO RGD:10821 D RGD:6480685|PMID:21145001 20120330 RGD protein:decreased activity:cerebellum, striatum (mouse) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:12858 Huntington's disease ISO RGD:10821 D RGD:6480875|PMID:19193873 20120406 RGD 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:1289 neurodegenerative disease onset ISO RGD:10821 D RGD:6480870|PMID:20219645 20120406 RGD mRNA:decreased expression:cerebellum (mouse) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:732978 D RGD:1556475|PMID:8567977 20061106 RGD 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17590087|PMID:19423733|PMID:20437544|PMID:21367767|PMID:21555639|PMID:25741868|PMID:26467025|PMID:27108797|PMID:28492532|PMID:28659154|PMID:28660440|PMID:29186133|PMID:29232918|PMID:29758065|PMID:29925855|PMID:30778698 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:1826 epilepsy ISO RGD:10821 D RGD:6482816|PMID:10426189 20120504 RGD 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:224 transient cerebral ischemia IEP D RGD:6482813|PMID:7500836 20120504 RGD mRNA:decreased expression:cerebral cortex (rat) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:2841 asthma IDA D RGD:5147661|PMID:21777465 20120508 RGD 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:480 movement disease ISO RGD:732978 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:630 genetic disease ISO RGD:732978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:15623688|PMID:17576681|PMID:19344873|PMID:24091540|PMID:25326635|PMID:25741868|PMID:25794864|PMID:26467025|PMID:27062503|PMID:27108797|PMID:27108798|PMID:27572814|PMID:28492532|PMID:28620721|PMID:28659154|PMID:28826917|PMID:29925855|PMID:30778698|PMID:31632679|PMID:32499604|PMID:35351177|PMID:9536098 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9002120 Congenital Mydriasis ISO RGD:732978 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bilateral congenital mydriasis PMID:25741868 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9002211 Hyperalgesia IEP D RGD:13793383|PMID:25972297 20181003 RGD 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9002669 Hypoxia IEP D RGD:13793382|PMID:28072885 20181003 RGD mRNA:decreased expression:hippocampus 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732978 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732978 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10664581|PMID:24091540|PMID:25741868|PMID:25794864|PMID:27062503|PMID:28492532|PMID:28659154|PMID:28826917|PMID:29925855 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9004756 Brain Hypoxia ISO RGD:10821 D RGD:6482794|PMID:17285299 20120503 RGD mRNA, protein:increased expression:cerebellum (mouse) 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9004756 Brain Hypoxia ISO RGD:732978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9004866 Ataxia ISO RGD:10821 D RGD:6482816|PMID:10426189 20120504 RGD 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 2933 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:10821 D RGD:6480678|PMID:21565852 20120330 RGD DNA:deletion:exon:p.Q1715_R1731del (mouse) 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:0050553 JMP syndrome ISO RGD:733997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:0060041 autism spectrum disorder ISS RGD:10822 D RGD:13592920 20190516 MouseDO 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:733997 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:12849 autistic disorder ISO RGD:733997 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33166615 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:2722 acrodermatitis ISO RGD:733997 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:630 genetic disease ISO RGD:733997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J ISO RGD:733997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J PMID:24627108|PMID:32949214 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J susceptibility ISO RGD:733997 D RGD:7240710 20230517 OMIM 2934 Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733997 D RGD:7240710 20230517 OMIM 2935 Itsn1 intersectin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2935 Itsn1 intersectin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:737072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 2935 Itsn1 intersectin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2935 Itsn1 intersectin 1 gene DOID:0080600 COVID-19 ISO RGD:737072 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2935 Itsn1 intersectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:737072 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 2935 Itsn1 intersectin 1 gene DOID:12849 autistic disorder ISO RGD:737072 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 2935 Itsn1 intersectin 1 gene DOID:12849 autistic disorder ISO RGD:737072 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 2935 Itsn1 intersectin 1 gene DOID:1826 epilepsy ISO RGD:737072 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 2935 Itsn1 intersectin 1 gene DOID:630 genetic disease ISO RGD:737072 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2935 Itsn1 intersectin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737072 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2935 Itsn1 intersectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 2935 Itsn1 intersectin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:737072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 2935 Itsn1 intersectin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:737072 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:7240710 20130221 OMIM 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:10713113|PMID:110677295|PMID:12767731|PMID:1310317|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:16825284|PMID:17027310|PMID:17576084|PMID:17576681|PMID:19089597|PMID:19099814|PMID:20519759|PMID:2063866|PMID:22004070|PMID:22350545|PMID:22960500|PMID:2318964|PMID:24019846|PMID:24059531|PMID:24516753|PMID:24637313|PMID:25220015|PMID:25741868|PMID:26018748|PMID:26589311|PMID:26937393|PMID:27629047|PMID:27904153|PMID:28492532|PMID:28535199|PMID:29402417|PMID:30159853|PMID:30838026|PMID:30904546|PMID:31442447|PMID:31589614|PMID:31707166|PMID:32505769|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:33521113|PMID:33565069|PMID:34535384|PMID:9536098|PMID:9665741 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735606 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:735606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10677295|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:17027310|PMID:17576084|PMID:19099814|PMID:22960500|PMID:24059531|PMID:24516753|PMID:25220015|PMID:25741868|PMID:26589311|PMID:26937393|PMID:27904153|PMID:28492532|PMID:28535199|PMID:31442447|PMID:31707166|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:9665741 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:735606 D RGD:1600039|PMID:2063866 20070226 RGD isovaleric acidemia, OMIM:243500 2936 Ivd isovaleryl-CoA dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735606 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353888 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0060249 scoliosis ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0080001 bone disease ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207788 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0080205 CAKUT ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:1353888 D RGD:6482238|PMID:21220737 20120420 RGD mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:1582342|PMID:12022040 20061106 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353888 D RGD:6482240|PMID:16934875 20120420 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1353888 D RGD:6482233|PMID:20805994 20120419 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:3068 glioblastoma ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735466 D RGD:13524575|PMID:26067594 20180423 RGD protein:increased expression:spinal chord 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:3571 liver cancer treatment ISO RGD:735466 D RGD:14694834|PMID:25311838 20190617 RGD miRNA:decreased expression:liver 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:3627 aortic aneurysm ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:25741868 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:155663660|PMID:27982686 20221130 RGD protein:increased expression:lung 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12497640|PMID:24033266|PMID:25741868|PMID:28492532 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11152664 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:1582344|PMID:11152664 20061106 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:7240710 20130221 OMIM 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11152664|PMID:11157803|PMID:12442286|PMID:12497640|PMID:12649809|PMID:16575836|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:30293987|PMID:32065591|PMID:33433009|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353888 D RGD:14694832|PMID:30660174 20190617 RGD protein:increased expression:liver 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:8398 osteoarthritis ISO RGD:1353888 D RGD:6482239|PMID:18354251 20120420 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:8501 fundus dystrophy ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11180599|PMID:28492532 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:8947 diabetic retinopathy ISO RGD:735466 D RGD:155663348|PMID:30787185 20221110 RGD mRNA,protein:increased expression:retina: 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9001487 Facies ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207787|PMID:9207788 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:7240710 20211110 OMIM 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:32065591|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:735466 D RGD:6482234|PMID:19265135 20120420 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735466 D RGD:6482235|PMID:17947672 20120420 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:6482230|PMID:21330605 20120419 RGD protein:increased expression:carotid artery 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1353888 D RGD:6482236|PMID:17114010 20120420 RGD mRNA,protein:increased expression:pancreas 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9007096 Stroke ISO RGD:1353888 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9007573 Flatfoot ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353888 D RGD:2299152|PMID:18691378 20080813 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10220506|PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:28492532|PMID:29483232|PMID:30074189|PMID:31343788|PMID:34185059 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207787|PMID:9207788|PMID:12022040 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9008606 Corneal Opacity ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9008681 Deafness ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:7240710 20210203 OMIM 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12022040|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207787|PMID:9207788|PMID:21532573 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:1580651|PMID:11745040 19990101 RGD 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:6482232|PMID:21714972 20120419 RGD DNA:insertion:exon:c.962_963insA (human) 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:7240710 20130221 OMIM 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12022040|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22487239|PMID:22488849|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26548814|PMID:26633542|PMID:26760175|PMID:27256232|PMID:27760138|PMID:28166811|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29783821|PMID:30074189|PMID:30651579|PMID:31343788|PMID:31475041|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:32733715|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34150014|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 2937 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:735466 D RGD:6482237|PMID:16875832 20120420 RGD 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:11193 syndactyly ISO RGD:733495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:3068 glioblastoma ISO RGD:733495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:733495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:7240710 20211110 OMIM 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 PMID:25741868|PMID:28492532|PMID:33861953 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 2938 Jag2 jagged canonical Notch ligand 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 2939 Jak2 Janus kinase 2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:10823 D RGD:6483049|PMID:21685897 20120511 RGD 2939 Jak2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:7240710 20130221 OMIM 2939 Jak2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:731748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 2939 Jak2 Janus kinase 2 gene DOID:0060903 thrombosis IAGP D RGD:15039391|PMID:22467227 20200117 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) 2939 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:731748 D RGD:10449376|PMID:23845539 20151223 RGD DNA:SNPs:introns: (rs12343867, rs10974944) (human) 2939 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:731748 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:22087750|PMID:29047144|PMID:35568132 2939 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm no_association ISO RGD:731748 D RGD:10449376|PMID:23845539 20151223 RGD DNA:SNP:intron: (rs12342421) (human) 2939 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm severity ISO RGD:731748 D RGD:10449393|PMID:15858187 20151228 RGD DNA:missense mutation:cds:p.V617F (human) 2939 Jak2 Janus kinase 2 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:10823 D RGD:10403054|PMID:21176403 20151105 RGD 2939 Jak2 Janus kinase 2 gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:127284843|PMID:29229353 20210609 RGD 2939 Jak2 Janus kinase 2 gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:6483030|PMID:18782535 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731748 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 2939 Jak2 Janus kinase 2 gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:10823 D RGD:127285675|PMID:28100771 20210627 RGD 2939 Jak2 Janus kinase 2 gene DOID:0080600 COVID-19 ISO RGD:731748 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2939 Jak2 Janus kinase 2 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer ISO RGD:731748 D RGD:126928128|PMID:24718681 20210527 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) 2939 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer susceptibility ISO RGD:731748 D RGD:126925979|PMID:23717640 20210524 RGD DNA:SNPs:exon, promoter: (rs2230724, rs1887427) (human) 2939 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer treatment ISO RGD:731748 D RGD:127284846|PMID:29408335 20210610 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer treatment ISO RGD:731748 D RGD:127284886|PMID:32106377 20210616 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:10603 glucose intolerance treatment ISO RGD:10823 D RGD:10403052|PMID:23223021 20151105 RGD associated with Alzheimer Disease 2939 Jak2 Janus kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10823 D RGD:10403051|PMID:18813209 20151105 RGD 2939 Jak2 Janus kinase 2 gene DOID:10762 portal hypertension severity IMP D RGD:18337263|PMID:26385087 20200117 RGD associated with liver cirrhosis 2939 Jak2 Janus kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731748 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 2939 Jak2 Janus kinase 2 gene DOID:1107 esophageal carcinoma treatment ISO RGD:731748 D RGD:127285656|PMID:25724470 20210624 RGD associated with Immune Deficiency Disease, human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:114 heart disease treatment IEP D RGD:8694329|PMID:23404057 20140731 RGD associated with Shock, Septic 2939 Jak2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762626|PMID:19293426 2939 Jak2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:7240710 20130221 OMIM 2939 Jak2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:1184 nephrotic syndrome ISO RGD:10823 D RGD:6483037|PMID:17823504 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:12236 primary biliary cholangitis treatment IMP D RGD:10403061|PMID:24619965 20151106 RGD 2939 Jak2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:10450609|PMID:9326218 20160119 RGD DNA:translocation: : 2939 Jak2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 2939 Jak2 Janus kinase 2 gene DOID:13252 mesenteric vascular occlusion ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 2939 Jak2 Janus kinase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731748 D RGD:10403061|PMID:24619965 20151106 RGD mRNA, protein:increased expression, increased tyrosine phosphorylation:liver 2939 Jak2 Janus kinase 2 gene DOID:1577 limited scleroderma ISO RGD:731748 D RGD:4892610|PMID:20808962 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:182 calcinosis ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2939 Jak2 Janus kinase 2 gene DOID:1920 hyperuricemia treatment IDA D RGD:10411892|PMID:23442673 20151110 RGD 2939 Jak2 Janus kinase 2 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 2939 Jak2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15781101|PMID:15858187|PMID:16484586|PMID:16896569|PMID:19154659|PMID:19636672|PMID:20434300|PMID:21942426 2939 Jak2 Janus kinase 2 gene DOID:2224 essential thrombocythemia severity ISO RGD:731748 D RGD:10449178|PMID:23130336 20151222 RGD DNA:mutation: :p.V617F (human) 2939 Jak2 Janus kinase 2 gene DOID:2226 myeloproliferative neoplasm ISS RGD:10823 D RGD:13592920 20190905 MouseDO 2939 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis IAGP D RGD:15039391|PMID:22467227 20200117 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F 2939 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:10449375|PMID:24398328 20151223 RGD DNA:point mutations: :p.S755R, p.R938Q (human) 2939 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19287382|PMID:19287384 2939 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:1627655|PMID:15781101 20070821 RGD essential thrombocythemia, OMIM:187950 2939 Jak2 Janus kinase 2 gene DOID:224 transient cerebral ischemia IDA D RGD:8694326|PMID:23764464 20140731 RGD 2939 Jak2 Janus kinase 2 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:731748 D RGD:127285665|PMID:22050790 20210625 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:731748 D RGD:125097526|PMID:32504672 20210403 RGD Human cell in mouse model 2939 Jak2 Janus kinase 2 gene DOID:2355 anemia ISO RGD:10823 D RGD:737719|PMID:9590174 19990101 RGD 2939 Jak2 Janus kinase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10823 D RGD:149735351|PMID:31250048 20210717 RGD associated with Carcinoma, Lewis Lung, human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity IEP D RGD:18182929|PMID:27788478 20200110 RGD mRNA:increased expression:liver,serum (human) 2939 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity IMP D RGD:18182929|PMID:27788478 20200110 RGD human cell line in a mouse model 2939 Jak2 Janus kinase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:731748 D RGD:127285669|PMID:32158193 20210625 RGD protein:increased phosphorylation:esophagus squamous epithelium (human) 2939 Jak2 Janus kinase 2 gene DOID:3905 lung carcinoma treatment ISO RGD:731748 D RGD:11529462|PMID:26397387 20210716 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:731748 D RGD:149735332|PMID:25869210 20210715 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:731748 D RGD:149735342|PMID:21325979 20210715 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731748 D RGD:11574134|PMID:27025877 20210715 RGD human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:731748 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 2939 Jak2 Janus kinase 2 gene DOID:4033 bacterial gastritis ISO RGD:731748 D RGD:126928128|PMID:24718681 20210527 RGD protein:increased expression:stomach (human) 2939 Jak2 Janus kinase 2 gene DOID:4079 heart valve disease ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 2939 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15781101|PMID:15858187|PMID:16951397|PMID:19154659|PMID:19287382|PMID:19287384|PMID:19287385|PMID:19636672|PMID:21942426 2939 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:1627655|PMID:15781101 20070821 RGD idiopathic myelofibrosis, OMIM:254450 2939 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:7240710 20130221 OMIM 2939 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis treatment ISO RGD:731748 D RGD:10449377|PMID:22796437 20151223 RGD 2939 Jak2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity IEP D RGD:18337263|PMID:26385087 20200117 RGD mRNA:increased expression:liver (human) 2939 Jak2 Janus kinase 2 gene DOID:5327 retinal detachment IDA D RGD:10411890|PMID:22251399 20151110 RGD protein:increased tyrosine phosphorylation:retina 2939 Jak2 Janus kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:731748 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:25741868 2939 Jak2 Janus kinase 2 gene DOID:5434 scrapie ISO RGD:10823 D RGD:6483034|PMID:17897356 20120510 RGD protein:increased expression:brain 2939 Jak2 Janus kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731748 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2939 Jak2 Janus kinase 2 gene DOID:5844 myocardial infarction susceptibility IMP D RGD:10403083|PMID:22749532 20151109 RGD associated with Myocardial Reperfusion Injury 2939 Jak2 Janus kinase 2 gene DOID:630 genetic disease ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2939 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:127285621|PMID:22821478 20210622 RGD protein:increased phosphorylation:liver (mouse) 2939 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:127285655|PMID:31393852 20210624 RGD associated with Diseases of the Aged and non-alcoholic fatty liver disease 2939 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:10823 D RGD:127285675|PMID:28100771 20210626 RGD L-JAK2 KO 2939 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731748 D RGD:125097525|PMID:22392353 20210524 RGD protein:increased phosphorylation:liver (human) 2939 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:18182928|PMID:25420511 20200110 RGD mRNA:decreased expression:liver (human) 2939 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:127285672|PMID:29486150 20210713 RGD 2939 Jak2 Janus kinase 2 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:731748 D RGD:6483025|PMID:20627814 20120510 RGD DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) 2939 Jak2 Janus kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10823 D RGD:6483024|PMID:21510883 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:10823 D RGD:10449378|PMID:19413997 20151223 RGD 2939 Jak2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:10823 D RGD:10449392|PMID:15793561 20151228 RGD 2939 Jak2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17267906 2939 Jak2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799|PMID:21297633 2939 Jak2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:6483020|PMID:22269120 20120510 RGD DNA:SNP: :rs10758669 (human) 2939 Jak2 Janus kinase 2 gene DOID:8778 Crohn's disease ISO RGD:731748 D RGD:6483020|PMID:22269120 20120510 RGD DNA:SNP: :rs10758669 (human) 2939 Jak2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15781101|PMID:15793561|PMID:15858187|PMID:16484586|PMID:17267906|PMID:18717827|PMID:19154659|PMID:19287382|PMID:19287384|PMID:20160369|PMID:21942426 2939 Jak2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:1627655|PMID:15781101 20070821 RGD 2939 Jak2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:7240710 20130221 OMIM 2939 Jak2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:10411896|PMID:23274522 20151110 RGD 2939 Jak2 Janus kinase 2 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 2939 Jak2 Janus kinase 2 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731748 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 2939 Jak2 Janus kinase 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731748 D RGD:127229952|PMID:28186964 20210604 RGD associated with stomach cancer, human cells in mouse model 2939 Jak2 Janus kinase 2 gene DOID:9000998 Brain Injuries IMP D RGD:6483023|PMID:21596098 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:10403061|PMID:24619965 20151106 RGD protein:increased expression, increased tyrosine phosphorylation:liver 2939 Jak2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2939 Jak2 Janus kinase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731748 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 2939 Jak2 Janus kinase 2 gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:10403073|PMID:22288937 20151106 RGD 2939 Jak2 Janus kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:10403082|PMID:22745068 20151109 RGD associated with Diabetes Mellitus, Experimental 2939 Jak2 Janus kinase 2 gene DOID:9002211 Hyperalgesia IMP D RGD:6483031|PMID:18636982 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:10823 D RGD:10403050|PMID:23511693 20151109 RGD associated with Diabetic Neuropathies 2939 Jak2 Janus kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 2939 Jak2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:10403074|PMID:22800927 20151106 RGD 2939 Jak2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:10403081|PMID:23711144 20151109 RGD 2939 Jak2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10823 D RGD:10403066|PMID:22339472 20151106 RGD 2939 Jak2 Janus kinase 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:731748 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 2939 Jak2 Janus kinase 2 gene DOID:9002720 Splenomegaly ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10823 D RGD:6483041|PMID:22066025 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9003121 Thromboembolism ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 2939 Jak2 Janus kinase 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17989398 2939 Jak2 Janus kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731748 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27470402 2939 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:10449376|PMID:23845539 20151223 RGD DNA:SNPs, haplotype: :rs12342421, rs12343867 (human) 2939 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:10449391|PMID:17059429 20151228 RGD DNA:mutation: :p.V617F (human) 2939 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 2939 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:731748 D RGD:10449376|PMID:23845539 20151223 RGD DNA:SNP: :rs10974944 (human) 2939 Jak2 Janus kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10823 D RGD:6483026|PMID:20440769 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:7240710 20140903 OMIM 2939 Jak2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:9004484 Sepsis treatment IDA D RGD:10411888|PMID:24228589 20151110 RGD 2939 Jak2 Janus kinase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 2939 Jak2 Janus kinase 2 gene DOID:9005372 Inflammation ISO RGD:731748 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:20943775 2939 Jak2 Janus kinase 2 gene DOID:9006101 Primary Ovarian Failure ISO RGD:731748 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868 2939 Jak2 Janus kinase 2 gene DOID:9006257 Growth Disorders IEP D RGD:10403065|PMID:23715123 20151106 RGD associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate 2939 Jak2 Janus kinase 2 gene DOID:9007096 Stroke IMP D RGD:6483032|PMID:18079966 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15746188|PMID:16214533 2939 Jak2 Janus kinase 2 gene DOID:9007346 Cachexia treatment ISO RGD:10823 D RGD:127285673|PMID:28489606 20210708 RGD associated with colon adenocarcinoma 2939 Jak2 Janus kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731748 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 2939 Jak2 Janus kinase 2 gene DOID:9007755 Intestinal Reperfusion Injury IMP D RGD:10403072|PMID:22777122 20151106 RGD 2939 Jak2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:10403071|PMID:23747931 20151106 RGD associated with Diabetes Mellitus, Experimental 2939 Jak2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:8694332|PMID:23796350 20140731 RGD 2939 Jak2 Janus kinase 2 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment IDA D RGD:10403076|PMID:23236988 20151106 RGD 2939 Jak2 Janus kinase 2 gene DOID:9008104 Cancer Pain treatment IEP D RGD:149735350|PMID:30027795 20210716 RGD 2939 Jak2 Janus kinase 2 gene DOID:9008691 Liver Injury treatment IDA D RGD:8694328|PMID:24161994 20140731 RGD associated with Pancreatitis, Acute 2939 Jak2 Janus kinase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10823 D RGD:6483022|PMID:21880982 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16247455 2939 Jak2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:7240710 20130221 OMIM 2939 Jak2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 2939 Jak2 Janus kinase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731748 D RGD:149735327|PMID:30123088 20210714 RGD protein:increased expression:mucosa of nasopharynx (human) 2939 Jak2 Janus kinase 2 gene DOID:9452 fatty liver disease ISO RGD:10823 D RGD:6483019|PMID:22275361 20120510 RGD 2939 Jak2 Janus kinase 2 gene DOID:9970 obesity IEP D RGD:10411893|PMID:23397595 20151110 RGD protein:decreased expression:hypothalamus 2939 Jak2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:731748 D RGD:1627661|PMID:14630696 20070821 RGD 2940 Jak3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23832011 2940 Jak3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737593 D RGD:11069125|PMID:23832011 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737593 D RGD:11531131|PMID:21821710 20160826 RGD DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) 2940 Jak3 Janus kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression IEP D RGD:11531126|PMID:26860129 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2940 Jak3 Janus kinase 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737593 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 2940 Jak3 Janus kinase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737593 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:22705984|PMID:23689514 2940 Jak3 Janus kinase 3 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:737593 D RGD:11531125|PMID:24446122 20160826 RGD DNA:missense mutations:exon:pM511I, p.R657Q (human) 2940 Jak3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment IMP D RGD:1600262|PMID:11781254 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:10824 D RGD:11531124|PMID:12010825 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:737593 D RGD:11531129|PMID:24153015 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29375547|PMID:30697212|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 2940 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:28109013|PMID:28492532|PMID:28916186|PMID:29375547|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 2940 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 2940 Jak3 Janus kinase 3 gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISS RGD:10824 D RGD:13592920 20180518 MouseDO OMIM:608971 2940 Jak3 Janus kinase 3 gene DOID:14069 cerebral malaria ISO RGD:10824 D RGD:11531103|PMID:22363534 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737593 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:16843266|PMID:20372971|PMID:20385788|PMID:22271575|PMID:25157968 2940 Jak3 Janus kinase 3 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737593 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2940 Jak3 Janus kinase 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737593 D RGD:11531122|PMID:25193870 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:5810 adenosine deaminase deficiency ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:14615376|PMID:17433830|PMID:17644747|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:32754152|PMID:33365035|PMID:9354668|PMID:9753072 2940 Jak3 Janus kinase 3 gene DOID:614 lymphopenia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:737593 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:15220007|PMID:15661026 2940 Jak3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:14615376|PMID:17433830|PMID:17644747|PMID:18559588|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:32754152|PMID:33365035|PMID:9354668|PMID:9753072 2940 Jak3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency treatment ISO RGD:10824 D RGD:11531109|PMID:9427607 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:630 genetic disease ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:707 B-cell lymphoma ISO RGD:737593 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 2940 Jak3 Janus kinase 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737593 D RGD:11531113|PMID:16843266 20160826 RGD 2940 Jak3 Janus kinase 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10982185|PMID:16843266|PMID:18270328|PMID:18397343|PMID:20132407|PMID:20372971|PMID:20385788|PMID:20400977|PMID:21599579|PMID:21821710|PMID:22271575|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:9000197 Edema treatment ISO RGD:10824 D RGD:11533938|PMID:25762693 20160913 RGD associated with Hypersensitivity, Delayed 2940 Jak3 Janus kinase 3 gene DOID:9000933 Leukemoid Reaction ISO RGD:737593 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Leukemoid reaction PMID:18397343|PMID:20400977|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:9002211 Hyperalgesia treatment IEP D RGD:11533942|PMID:21434883 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:11533942|PMID:21434883 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:11533938|PMID:25762693 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:11533944|PMID:18234077 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LYMPHOMATOUS ALL PMID:10982185|PMID:16843266|PMID:18270328|PMID:20132407|PMID:20372971|PMID:21599579|PMID:21821710|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:9002669 Hypoxia IEP D RGD:150527843|PMID:14703438 20211202 RGD protein:increased expression:lung 2940 Jak3 Janus kinase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:11533939|PMID:25012120 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:9002928 Colonic Neoplasms treatment IEP D RGD:11533940|PMID:23514809 20160913 RGD 2940 Jak3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:1600254|PMID:7659163 20070306 RGD DNA:point mutation, deletion:CDS:394A>G, pY100C (human) 2940 Jak3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:7240710 20130221 OMIM 2940 Jak3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 2940 Jak3 Janus kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:10824 D RGD:11531100|PMID:22359619 20160825 RGD 2940 Jak3 Janus kinase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11533943|PMID:21575160 20160913 RGD protein:increased expression:retina 2940 Jak3 Janus kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737593 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 2940 Jak3 Janus kinase 3 gene DOID:9007138 Cd4+ Lymphocyte Deficiency ISO RGD:737593 D RGD:11531127|PMID:25205547 20160826 RGD DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) 2940 Jak3 Janus kinase 3 gene DOID:9007647 Trichiasis ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Trichiasis PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:737593 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 2940 Jak3 Janus kinase 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:737593 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 2940 Jak3 Janus kinase 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:737593 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:25741868|PMID:28492532 2940 Jak3 Janus kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 2942 Jtb jumping translocation breakpoint gene DOID:0070048 GAND syndrome ISO RGD:736325 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 2942 Jtb jumping translocation breakpoint gene DOID:0111940 immunodeficiency 42 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2942 Jtb jumping translocation breakpoint gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2942 Jtb jumping translocation breakpoint gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2942 Jtb jumping translocation breakpoint gene DOID:1540 parathyroid carcinoma ISO RGD:736325 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2942 Jtb jumping translocation breakpoint gene DOID:5812 MHC class II deficiency ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2942 Jtb jumping translocation breakpoint gene DOID:630 genetic disease ISO RGD:736325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2942 Jtb jumping translocation breakpoint gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736325 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0001816 angiosarcoma ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:734356 D RGD:13210753|PMID:8264230 20170906 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:734356 D RGD:13210753|PMID:8264230 20170906 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:734356 D RGD:11535375|PMID:26581505 20220825 RGD mRNA,protein:increased expression:tongue (human) 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:734356 D RGD:153344573|PMID:34111459 20220826 RGD mRNA, protein:increased expression:mouth (human) 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:734356 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10286 prostate carcinoma ISO RGD:734356 D RGD:2290480|PMID:16413376 20080314 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10325 silicosis ISO RGD:734356 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension IDA D RGD:10047414|PMID:11358932 20150713 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:734356 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24039778 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10828 D RGD:1549450|PMID:15314684 20150112 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:734356 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1596 depressive disorder IEP D RGD:2290593|PMID:10719210 20080321 RGD protein:increased expression:basolateral amygdala 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1612 breast cancer ISO RGd:734356 D RGD:2290479|PMID:16733206 20080314 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1686 glaucoma ISO RGD:734356 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2316 brain ischemia ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:734356 D RGD:2290484|PMID:9748134 20080314 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2870 endometrial adenocarcinoma no_association ISO RGD:734356 D RGD:2290482|PMID:10684716 20080314 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734356 D RGD:2290481|PMID:15800680 20080314 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2957 pulmonary tuberculosis ISO RGD:734356 D RGD:4889999|PMID:19737230 20080314 RGD protein:decreased phosphorylation:macrophage, nucleus 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10828 D RGD:155663371|PMID:34331613 20221114 RGD mRNA, protein:increased expression:lung (mouse) 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3347 osteosarcoma ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645001 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4450 renal cell carcinoma ISO RGD:734356 D RGD:1549443|PMID:16006965 20080314 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma IEP D RGD:2293758|PMID:9405228 20080612 RGD mRNA:increased expression:kidney 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:574 peripheral nervous system disease ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:734356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:734356 D RGD:1549449|PMID:12145210 20150112 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000039 Spinal Cord Injuries IDA D RGD:4889994|PMID:21132399 20080401 RGD protein:increased phosphorylation:neuron 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17355264 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001041 Asphyxia ISO RGD:10828 D RGD:4890002|PMID:18620825 20101213 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001472 Nasal Polyps ISO RGD:734356 D RGD:4890001|PMID:19158123 20101213 RGD mRNA:decreased expression:nasal cavity epithelium 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001642 Intestinal Polyps ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:734356 D RGD:2290478|PMID:17634427 20080313 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD Jun interacts with androgen receptor and ETV1 to mediate invasion PMID:17634427|REF_RGD_ID:2290478 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:18283038 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15515958 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20716630 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:734356 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12127263|PMID:24183702 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734356 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:8777434|PMID:21726611 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008091 Optic Nerve Injuries IEP D RGD:10047417|PMID:10366744 20150713 RGD 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:734356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:734356 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 2943 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9675 pulmonary emphysema ISS RGD:10828 D RGD:13592920 20180518 MouseDO OMIM:130700 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737195 D RGD:1549449|PMID:12145210 20150112 RGD 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737195 D RGD:151347670|PMID:10874008 20220131 RGD protein:increased expression:colorectal mucosa (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:737195 D RGD:11535375|PMID:26581505 20220825 RGD protein:increased expression:tongue (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737195 D RGD:151347666|PMID:28155253 20220131 RGD associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050990 episodic ataxia type 2 ISO RGD:737195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:737195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0111254 glutaric acidemia I ISO RGD:737195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:737195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1909 melanoma treatment ISO RGD:737195 D RGD:151347671|PMID:28976960 20220131 RGD human cell line in a mouse model 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:219 colon cancer ISO RGD:737195 D RGD:151347667|PMID:11751871 20220131 RGD RNA:decreased expression:colon (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3121 gallbladder cancer exacerbates ISO RGD:737195 D RGD:11528126|PMID:26318166 20220131 RGD protein:increased expression:gall bladder (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3413 alpha-mannosidosis ISO RGD:737195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:737195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737195 D RGD:151347672|PMID:19758438 20220131 RGD protein:increased expression:esophagus (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:737195 D RGD:151347669|PMID:30227324 20220131 RGD protein:increased expression:esophagus (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737195 D RGD:151347665|PMID:29895215 20220131 RGD RNA:increased expression:lung (human) 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3910 lung adenocarcinoma ISO RGD:737195 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma IEP D RGD:2293758|PMID:9405228 20080612 RGD mRNA:increased expression:kidney 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:737195 D RGD:11556098|PMID:26754630 20220131 RGD human cell line in a mouse model 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:737195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:737195 D RGD:1549449|PMID:12145210 20150112 RGD 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:737195 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:27935865 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms IEP D RGD:2293780|PMID:14674993 20080613 RGD protein:increased expression:tongue epithelium 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:737195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9074 systemic lupus erythematosus ISS RGD:737196 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 2944 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:737195 D RGD:9068941 20220204 RGD associated with ulcerative colitis;protein:increased expression:colonic mucosa (human) PMID:33299340|REF_RGD_ID:151347858 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735346 D RGD:11535375|PMID:26581505 20220825 RGD protein:increased expression:tongue (human) 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735346 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:13139 crescentic glomerulonephritis IEP D RGD:2293336|PMID:18443593 20210107 RGD 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735346 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:735346 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18443593 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma IEP D RGD:2293758|PMID:9405228 20080612 RGD mRNA:increased expression:kidney 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:5082 liver cirrhosis ISO RGD:735346 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17133482 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735346 D RGD:153297768|PMID:15927205 20220725 RGD associated with HBV;protein:increased expression:liver (human) 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735346 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735346 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17898221 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735346 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 2945 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 2947 Kap kidney androgen regulated protein gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:5508061 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 2947 Kap kidney androgen regulated protein gene DOID:0060041 autism spectrum disorder ISO RGD:5508061 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 2947 Kap kidney androgen regulated protein gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:5508061 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 2947 Kap kidney androgen regulated protein gene DOID:12849 autistic disorder ISO RGD:5508061 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2947 Kap kidney androgen regulated protein gene DOID:5419 schizophrenia ISO RGD:5508061 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2947 Kap kidney androgen regulated protein gene DOID:630 genetic disease ISO RGD:5508061 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2948 Aadat aminoadipate aminotransferase gene DOID:630 genetic disease ISO RGD:1606004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2948 Aadat aminoadipate aminotransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1606004 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2948 Aadat aminoadipate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 IAGP D RGD:10047237|PMID:22206926 20170504 RGD 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:7240710 20130221 OMIM 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY PMID:10355668|PMID:11013453|PMID:11026449|PMID:11746627|PMID:12408867|PMID:15127317|PMID:15979945|PMID:16511644|PMID:17114047|PMID:19307729|PMID:19528245|PMID:19779067|PMID:20301785|PMID:21307345|PMID:21858020|PMID:2245301|PMID:22609616|PMID:23349320|PMID:25659636|PMID:25741868|PMID:26395884|PMID:26467025|PMID:26778656|PMID:27864847|PMID:28216637|PMID:28492532|PMID:28666963|PMID:29056246|PMID:29375859|PMID:29915382|PMID:30055040|PMID:30140249|PMID:32139178|PMID:32705822|PMID:34305802|PMID:7842011|PMID:8541859|PMID:8845167|PMID:9526001|PMID:9600245 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:25741868|PMID:28492532|PMID:34305802 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:11832 visual epilepsy IAGP D RGD:10047237|PMID:22206926 20170504 RGD 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:1826 epilepsy ISS RGD:1552897 D RGD:13592920 20180518 MouseDO 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:3328 temporal lobe epilepsy ISS RGD:1552897 D RGD:13592920 20180518 MouseDO 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1346938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040|PMID:7842011|PMID:8845167|PMID:9526001 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:28492532 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001302 Myokymia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia 1 PMID:11026449|PMID:17136396|PMID:25741868 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:1346938 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:25741868|PMID:34305802 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9003935 Myokymia IAGP D RGD:10047237|PMID:22206926 20170504 RGD 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9003935 Myokymia ISO RGD:1346938 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025|PMID:28492532 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346938 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2949 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:963 episodic ataxia ISO RGD:1346938 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:25741868|PMID:26467025|PMID:28492532 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:7240710 20170125 OMIM 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder PMID:15694325|PMID:16002579|PMID:17634333|PMID:18414213|PMID:20696761|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:25950944|PMID:26467025|PMID:26599217|PMID:27062609|PMID:27117551|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28204960|PMID:28492532|PMID:28806589|PMID:29050392|PMID:29100083|PMID:30182498|PMID:30283815|PMID:31170314|PMID:33232902|PMID:33624935|PMID:33802230|PMID:8663992|PMID:8663993 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735518 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:735518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:12849 autistic disorder ISO RGD:735518 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:735518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:26467025|PMID:26648591|PMID:27062609|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902|PMID:33802230|PMID:8663992|PMID:8663993 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735518 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005466 Language Development Disorders ISO RGD:735518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7242761|PMID:17982915 20130419 RGD 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 2950 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 2951 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1342945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 2951 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:12849 autistic disorder ISO RGD:1342945 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2951 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1342945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2952 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:1059 intellectual disability ISO RGD:731771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2952 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:630 genetic disease ISO RGD:731771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2952 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:7240710 20190315 OMIM 2952 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum PMID:23181898|PMID:25741868|PMID:27582084 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:731065 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050823 third-degree atrioventricular block ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:21858020|PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060224 atrial fibrillation ISO RGD:731065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19698954 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731065 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:15735608|PMID:16411137|PMID:21306642|PMID:23264583|PMID:23861362|PMID:24068186|PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:10534 stomach cancer ISO RGD:731065 D RGD:9686069|PMID:16258262 20150129 RGD protein:increased expression:gastric mucosa (human) 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:10763 hypertension IEP D RGD:1627659|PMID:11358947 20070821 RGD mRNA:increased expression:heart 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:114 heart disease ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heart disease PMID:22402074|PMID:23264583|PMID:25410959|PMID:25741868|PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:630 genetic disease ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension IDA D RGD:7242752|PMID:20303989 20130418 RGD 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:1627651|PMID:17596340 20070821 RGD 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:1627654|PMID:17267549 20070821 RGD DNA:SNPs:promoter, cds 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731065 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:7240710 20130221 OMIM 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: altered potassium channel function PMID:15735608|PMID:16025157|PMID:16411137|PMID:16772329|PMID:17266934|PMID:17872968|PMID:18209767|PMID:19029374|PMID:19343045|PMID:19443837|PMID:20018952|PMID:20646426|PMID:21306642|PMID:21685056|PMID:22402074|PMID:23264583|PMID:23861362|PMID:24033266|PMID:24068186|PMID:24144883|PMID:24936649|PMID:24950668|PMID:25076992|PMID:25410959|PMID:25741868|PMID:26129877|PMID:26220970|PMID:26383259|PMID:28492532|PMID:28803858|PMID:29034891|PMID:29247119|PMID:29743074|PMID:31727138|PMID:33789662|PMID:34088380|PMID:34570182 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731065 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:23861362|PMID:25741868|PMID:28492532 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:7242784|PMID:15306225 20130422 RGD 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002554 Tachycardia IDA D RGD:7242768|PMID:15876811 20130419 RGD 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7242761|PMID:17982915 20130419 RGD 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731065 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 2953 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:731065 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:20018952|PMID:21685056|PMID:23861362|PMID:24068186|PMID:25076992|PMID:28492532 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:25741868|PMID:26477325|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514|PMID:33951346 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:7240710 20170315 OMIM 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder PMID:17576681|PMID:19029374|PMID:25131622|PMID:25164438|PMID:25741868|PMID:26467025|PMID:26477325|PMID:26503721|PMID:26648591|PMID:27652284|PMID:27928161|PMID:28173649|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29322350|PMID:31512327|PMID:31513310|PMID:31600826|PMID:31780880|PMID:31791873|PMID:32036363|PMID:32581362|PMID:32954514|PMID:33132203|PMID:33951346|PMID:8698327|PMID:9536098 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 exacerbates ISO RGD:732212 D RGD:126908009|PMID:33132203 20210507 RGD DNA:missense mutation:CDS:p.G379R (mouse) 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 susceptibility ISO RGD:732211 D RGD:126908008|PMID:28806457 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1059 intellectual disability ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26477325|PMID:27652284|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:12377 spinal muscular atrophy ISO RGD:732212 D RGD:126908005|PMID:28504671 20210507 RGD protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy disease_progression ISO RGD:732212 D RGD:126908006|PMID:24494598 20210507 RGD 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy susceptibility ISO RGD:732211 D RGD:126908007|PMID:32954514 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:5419 schizophrenia ISO RGD:732211 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26240432 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:630 genetic disease ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1881453|PMID:23705070|PMID:25164438|PMID:25741868|PMID:27652284|PMID:28492532|PMID:31600826|PMID:33144682|PMID:8398157|PMID:8541859|PMID:9526001 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:126908004|PMID:24355600 20210507 RGD protein:decreased expression:tibial nerve, motor neuron, neuronal cell body (rat) 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25164438|PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732211 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:32581362 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732211 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9007114 Mobility Limitation ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 2954 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:7240710 20170315 OMIM 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:17576681|PMID:25363768|PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28145425|PMID:28380698|PMID:28488083|PMID:28492532|PMID:28714951|PMID:31353855|PMID:31353862|PMID:34232791|PMID:9536098 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:1059 intellectual disability ISO RGD:735437 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10833 D RGD:9686062|PMID:21912965 20150129 RGD mRNA, protein:decreased expression:neocortex (mouse) 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28380698|PMID:28488083|PMID:28492532 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 2955 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735437 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:8899564|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:8899564|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060224 atrial fibrillation ISO RGD:736969 D RGD:1580498|PMID:12228786 19990101 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:736969 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0080600 COVID-19 ISO RGD:736969 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:7240710 20130425 OMIM 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:33693037|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24217263|PMID:28492532 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30461122 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:1588 thrombocytopenia ISO RGD:736969 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9354783 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:12910698|PMID:16987820 20170621 RGD DNA:mutation:splice junction:G477+1A(human) 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:1580499|PMID:9445165 19990101 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9354802|PMID:14510655|PMID:18329740 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:1580499|PMID:9445165 19990101 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:1580502|PMID:15840476 19990101 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome susceptibility ISO RGD:736969 D RGD:11072353|PMID:19695459 20170621 RGD DNA:polymorphism:cds:p.D85N(human) 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:4440 seminoma ISO RGD:736969 D RGD:1580497|PMID:15389592 20130425 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:736969 D RGD:12910696|PMID:17384445 20170621 RGD mRNA:increased expression:endocardium of right ventricle: 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:18426444|PMID:19305408|PMID:19695459|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias IEP D RGD:7242918|PMID:20381460 20130425 RGD associated with Myocardial Infarction 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10834 D RGD:12910697|PMID:14561835 20170621 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736969 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736969 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Noise induced hearing loss PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17597962|PMID:18426444|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7828904|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004538 Hearing Loss ISO RGD:736969 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736969 D RGD:1580499|PMID:9445165 19990101 RGD 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9005444 Torsades de Pointes ISO RGD:736969 D RGD:11066279|PMID:22100668 20170621 RGD DNA:SNP:cds:p.D85N (rs1805128)(human) 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:30461122 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:7240710 20131030 OMIM 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29625280|PMID:29672598|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 2956 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007820 Sudden Death ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:7240710 20130221 OMIM 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter disease type 2 PMID:10049979|PMID:10611379|PMID:10878442|PMID:11318951|PMID:12911542|PMID:18391953|PMID:19096086|PMID:19602640|PMID:20699659|PMID:20926634|PMID:22245519|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28630040|PMID:29942493|PMID:31441846|PMID:32573669|PMID:32590952|PMID:32939031|PMID:32997650|PMID:8841184|PMID:9002665|PMID:9015377|PMID:9502574|PMID:9580661|PMID:9727001 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732016 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:10283 prostate cancer ISO RGD:732016 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:10763 hypertension ISO RGD:732016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:1184 nephrotic syndrome IEP D RGD:7244390|PMID:21606114 20130604 RGD 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:1826 epilepsy ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10611379|PMID:12086641|PMID:28492532|PMID:31672324|PMID:32185747 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:445 Bartter disease ISO RGD:732016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10561751|PMID:12911542|PMID:22275899 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:445 Bartter disease ISO RGD:732016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome PMID:10611379|PMID:10878442|PMID:12081585|PMID:12911542|PMID:16982955|PMID:18391953|PMID:19096086|PMID:21865213|PMID:23782368|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29942493|PMID:32573669|PMID:32939031|PMID:32997650|PMID:33058840|PMID:9015377|PMID:9502574|PMID:9587066 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:5419 schizophrenia ISO RGD:732016 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:630 genetic disease ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18391953|PMID:19096086|PMID:25741868|PMID:26467025|PMID:28492532 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732016 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 2957 Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 gene DOID:9007661 Dwarfism ISO RGD:732016 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 2958 Kcnj3 potassium inwardly-rectifying channel, subfamily J, member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733789 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 2958 Kcnj3 potassium inwardly-rectifying channel, subfamily J, member 3 gene DOID:630 genetic disease ISO RGD:733789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:14250 Down syndrome ISO RGD:731945 D RGD:6483052|PMID:22178330 20120511 RGD protein:increased expression:hippocampus 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:1574 alcohol use disorder ISO RGD:1313992 D RGD:6483053|PMID:21307845 20120511 RGD DNA:SNP:promoter:rs2836016 (human) 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:1826 epilepsy ISO RGD:1313992 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:5419 schizophrenia ISO RGD:1313992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:630 genetic disease ISO RGD:1313992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:9002955 Nerve Degeneration ISO RGD:1313992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15256069 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:7240710 20170503 OMIM 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:19610118|PMID:25620207|PMID:25741868|PMID:28492532 2959 Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 gene DOID:9976 heroin dependence ISO RGD:1313992 D RGD:6483055|PMID:20220551 20120511 RGD DNA:SNP: :rs2070995 (human) 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0050451 Brugada syndrome ISO RGD:731904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:32215968 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0060319 cardiac arrest ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:731904 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28842488 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:731904 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:24176758|PMID:24700710|PMID:25741868|PMID:28492532|PMID:32215968 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0080855 Parkinsonism IEP D RGD:1598645|PMID:15857625 20061209 RGD mRNA, protein:increased expression:striatum, hippocampus (rat) 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731904 D RGD:8554872 20170926 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:25741868 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:0111151 Prinzmetal angina ISO RGD:10835 D RGD:1581700|PMID:11984590 20061031 RGD 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:10763 hypertension IDA D RGD:1581698|PMID:16051697 20061019 RGD 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:11446 sciatic neuropathy IEP D RGD:12791994|PMID:21907492 20170307 RGD protein:decreased expression:spinal cord 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731904 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19120683|PMID:20558321|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23632791|PMID:24700710|PMID:25741868|PMID:28492532 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:3393 coronary artery disease ISS RGD:10835 D RGD:13592920 20180518 MouseDO OMIM:300464 | OMIM:607339 | OMIM:608316 | OMIM:608318 | OMIM:608320 | OMIM:608901 | OMIM:610938 | OMIM:610947 | OMIM:611139 | OMIM:612030 | OMIM:614293 | OMIM:614466 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:630 genetic disease ISO RGD:731904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731904 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9000528 Coronary Disease no_association ISO RGD:731904 D RGD:1581699|PMID:12964027 20061031 RGD 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:32215968 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9004009 Reperfusion Injury IDA D RGD:1581697|PMID:10708603 20061018 RGD 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9007 sudden infant death syndrome ISO RGD:731904 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:28492532 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9007102 Myocardial Ischemia IEP D RGD:12790977|PMID:26591689 20170223 RGD 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9007102 Myocardial Ischemia IEP D RGD:1598652|PMID:9399952 20061209 RGD 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9007820 Sudden Death ISO RGD:731904 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 2960 Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:729109|PMID:12234964 20061018 RGD 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension IDA D RGD:1298970|PMID:14551242 19990101 RGD 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension IEP D RGD:10412046|PMID:16814121 20151112 RGD mRNA, protein:increased expression:aorta, mesenteric artery 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17700361 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:1581718|PMID:16293791 20061019 RGD 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:733456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9004657 Weight Gain ISO RGD:733456 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27288421 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10412030|PMID:24589593 20151111 RGD protein:decreased expression:aorta, smooth muscle 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007102 Myocardial Ischemia no_association ISO RGD:733456 D RGD:1581719|PMID:16155733 20061019 RGD 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007692 Insulin Resistance IEP D RGD:10412047|PMID:21425425 20151112 RGD mRNA, protein:decreased expression:aorta, mesenteric artery 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:7240710 20130221 OMIM 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 2961 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10412045|PMID:18790848 20151112 RGD protein:decreased expression:aorta 2962 Kcnn1 potassium calcium-activated channel subfamily N member 1 gene DOID:630 genetic disease ISO RGD:731634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2962 Kcnn1 potassium calcium-activated channel subfamily N member 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:0050753 cerebellar ataxia ISO RGD:734125 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33242881 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:0060224 atrial fibrillation ISO RGD:734125 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:12849 autistic disorder ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:14330 Parkinson's disease ISS RGD:734126 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:4990 essential tremor IMP D RGD:38508907|PMID:28917524 20210805 RGD DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:630 genetic disease ISO RGD:734125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16002581|PMID:25741868|PMID:28917524|PMID:33242881 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734125 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734125 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33242881 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:7240710 20220202 OMIM 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Dystonia 34, myoclonic PMID:32212350 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:7240710 20220810 OMIM 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities PMID:25741868|PMID:33242881 2963 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16002581|PMID:25741868|PMID:28492532|PMID:33242881 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0060224 atrial fibrillation ISO RGD:733381 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20173747|PMID:30061737 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:10283 prostate cancer ISO RGD:733381 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:1229 paranoid schizophrenia ISO RGD:733381 D RGD:1358338|PMID:12007452 20150112 RGD DNA:repeat:exon 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:733381 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia ISO RGD:733381 D RGD:1358671|PMID:9672903 19990101 RGD DNA:repeat:exon 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia onset ISO RGD:733381 D RGD:1358338|PMID:12007452 19990101 RGD 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:5812 MHC class II deficiency ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:630 genetic disease ISO RGD:733381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:7240710 20191127 OMIM 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:24033266|PMID:25741868|PMID:31155282 2964 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733381 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:0001816 angiosarcoma ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 2965 Kdr kinase insert domain receptor gene DOID:0002116 pterygium ISO RGD:731018 D RGD:8549762|PMID:15885787 20140404 RGD mRNA,protein:decreased expression:conjunctiva: 2965 Kdr kinase insert domain receptor gene DOID:0002116 pterygium disease_progression ISO RGD:731018 D RGD:8549754|PMID:23376569 20140404 RGD protein:increased expression:conjunctiva: 2965 Kdr kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:731018 D RGD:126848811|PMID:25372416 20210504 RGD protein:altered phosphorylation:colon 2965 Kdr kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:731018 D RGD:11529678|PMID:26325365 20210504 RGD 2965 Kdr kinase insert domain receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10836 D RGD:8551769|PMID:19380367 20140410 RGD 2965 Kdr kinase insert domain receptor gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:731018 D RGD:126907998|PMID:26498950 20210506 RGD 2965 Kdr kinase insert domain receptor gene DOID:0060108 brain glioma ISO RGD:731018 D RGD:151660356|PMID:33900414 20220307 RGD protein:increased expression:brain (human) 2965 Kdr kinase insert domain receptor gene DOID:0060180 colitis IEP D RGD:7207796|PMID:22261574 20130206 RGD protein:increased expression:colon: 2965 Kdr kinase insert domain receptor gene DOID:0060669 cerebral cavernous malformation ISO RGD:731018 D RGD:8551824|PMID:11220380 20140414 RGD protein:increased expression:endothelial cell: 2965 Kdr kinase insert domain receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731018 D RGD:8551824|PMID:11220380 20140414 RGD protein:increased expression:endothelial cell: 2965 Kdr kinase insert domain receptor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10836 D RGD:8549742|PMID:16951377 20140403 RGD protein:increased expression:cornea: 2965 Kdr kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10836 D RGD:8549742|PMID:16951377 20140403 RGD 2965 Kdr kinase insert domain receptor gene DOID:10283 prostate cancer ISO RGD:731018 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 2965 Kdr kinase insert domain receptor gene DOID:10487 Hirschsprung's disease ISO RGD:731018 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:731018 D RGD:126907999|PMID:30380970 20210506 RGD DNA:SNP: :rs1870377 (human) 2965 Kdr kinase insert domain receptor gene DOID:10534 stomach cancer no_association ISO RGD:731018 D RGD:126907999|PMID:30380970 20210506 RGD DNA:SNPs: :rs7667298, rs2071559, rs2305948 (human) 2965 Kdr kinase insert domain receptor gene DOID:10763 hypertension IEP D RGD:5684418|PMID:15838270 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:10763 hypertension treatment ISO RGD:731018 D RGD:8552374|PMID:20630084 20140422 RGD DNA:polymorphism:cds:p.H472Q(human) 2965 Kdr kinase insert domain receptor gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:731018 D RGD:8549752|PMID:22919317 20140404 RGD DNA:SNP: :rs2071559(human) 2965 Kdr kinase insert domain receptor gene DOID:11054 urinary bladder cancer ISO RGD:731018 D RGD:2301758|PMID:12215294 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:11054 urinary bladder cancer severity ISO RGD:731018 D RGD:2291949|PMID:12940780 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:11132 prostatic hypertrophy IEP D RGD:2292079|PMID:15999482 20180404 RGD 2965 Kdr kinase insert domain receptor gene DOID:1115 sarcoma ISO RGD:731018 D RGD:2289964|PMID:15823121 20081031 RGD protein:increased expression:uterus 2965 Kdr kinase insert domain receptor gene DOID:11212 hydrophthalmos ISO RGD:10836 D RGD:8549773|PMID:22426483 20140404 RGD 2965 Kdr kinase insert domain receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:10836 D RGD:8549714|PMID:21691137 20140402 RGD 2965 Kdr kinase insert domain receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:10836 D RGD:8549755|PMID:18263815 20140404 RGD 2965 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity IEP D RGD:8549753|PMID:15039215 20140404 RGD mRNA:increased expression:retina 2965 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:10836 D RGD:5684426|PMID:21731737 20111220 RGD 2965 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:731018 D RGD:8549746|PMID:18408080 20140403 RGD associated with premature birth;protein:increased expression:plasma: 2965 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity treatment IEP D RGD:155663485|PMID:30652694 20221117 RGD 2965 Kdr kinase insert domain receptor gene DOID:13812 adhesions of uterus severity ISO RGD:731018 D RGD:126925216|PMID:31596310 20210514 RGD mRNA, protein:increased expression:endometrium 2965 Kdr kinase insert domain receptor gene DOID:13812 adhesions of uterus treatment IMP D RGD:126925216|PMID:31596310 20210514 RGD 2965 Kdr kinase insert domain receptor gene DOID:1475 lymphangioma ISO RGD:731018 D RGD:8552338|PMID:17584927 20140421 RGD protein:increased expression:;lymphatic endothelial cell: 2965 Kdr kinase insert domain receptor gene DOID:1520 colon carcinoma ISO RGD:731018 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 2965 Kdr kinase insert domain receptor gene DOID:1520 colon carcinoma treatment ISO RGD:10836 D RGD:126925192|PMID:12415261 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:1577 limited scleroderma ISO RGD:731018 D RGD:8551850|PMID:19886888 20140415 RGD protein:increased expression:serum: 2965 Kdr kinase insert domain receptor gene DOID:1580 diffuse scleroderma ISO RGD:731018 D RGD:8551850|PMID:19886888 20140415 RGD protein:increased expression:serum: 2965 Kdr kinase insert domain receptor gene DOID:1612 breast cancer ISO RGD:731018 D RGD:2291951|PMID:10371349 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:1679 cystitis IDA D RGD:5684428|PMID:21412823 20111220 RGD 2965 Kdr kinase insert domain receptor gene DOID:1749 squamous cell carcinoma ISO RGD:10836 D RGD:8551848|PMID:16251423 20140415 RGD 2965 Kdr kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12385004 2965 Kdr kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:5684397|PMID:19930156 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:1875 impotence IEP D RGD:5684417|PMID:16422887 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:1909 melanoma ISO RGD:731018 D RGD:8552360|PMID:21730877 20140422 RGD protein:increased expression:serum: 2965 Kdr kinase insert domain receptor gene DOID:1909 melanoma disease_progression ISO RGD:731018 D RGD:8551851|PMID:15714119 20140415 RGD protein:increased expression, altered expression:skin: 2965 Kdr kinase insert domain receptor gene DOID:1909 melanoma treatment ISO RGD:10836 D RGD:126925192|PMID:12415261 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:1936 atherosclerosis treatment ISO RGD:10836 D RGD:8551768|PMID:17303776 20140410 RGD 2965 Kdr kinase insert domain receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 2965 Kdr kinase insert domain receptor gene DOID:2316 brain ischemia IMP D RGD:5684407|PMID:18951929 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:2349 arteriosclerosis IEP D RGD:1581706|PMID:15665766 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:731018 D RGD:1581713|PMID:16873710 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma IEP D RGD:5684541|PMID:20808233 20111221 RGD protein:increased expression:prostate gland 2965 Kdr kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:731018 D RGD:2291925|PMID:17491265 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:264 hemangiopericytoma ISO RGD:731018 D RGD:155663351|PMID:26951238 20221110 RGD mRNA:increased expression:anterior temporal lobe 2965 Kdr kinase insert domain receptor gene DOID:2671 transitional cell carcinoma ISO RGD:731018 D RGD:2291934|PMID:16515971 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:2301755|PMID:18645275 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:2773 contact dermatitis ISO RGD:10836 D RGD:5684424|PMID:15500639 20111220 RGD 2965 Kdr kinase insert domain receptor gene DOID:2841 asthma ISO RGD:10836 D RGD:5684385|PMID:20921519 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:2841 asthma ISO RGD:731018 D RGD:8551771|PMID:17651148 20140411 RGD associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: 2965 Kdr kinase insert domain receptor gene DOID:289 endometriosis IEP D RGD:5135061|PMID:20056215 20120322 RGD mRNA:increased expression:endometrium 2965 Kdr kinase insert domain receptor gene DOID:299 adenocarcinoma ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 2965 Kdr kinase insert domain receptor gene DOID:3042 allergic contact dermatitis ISO RGD:731018 D RGD:7421586|PMID:7876550 20140422 RGD mRNA:protein:skin: 2965 Kdr kinase insert domain receptor gene DOID:3068 glioblastoma treatment ISO RGD:731018 D RGD:11529678|PMID:26325365 20210504 RGD 2965 Kdr kinase insert domain receptor gene DOID:3070 high grade glioma disease_progression ISO RGD:10836 D RGD:5684393|PMID:20501615 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:3070 high grade glioma severity ISO RGD:731018 D RGD:5684425|PMID:10506722 20111220 RGD 2965 Kdr kinase insert domain receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731018 D RGD:5684420|PMID:15681497 20111219 RGD protein:increased expression:lung 2965 Kdr kinase insert domain receptor gene DOID:3179 inverted papilloma ISO RGD:731018 D RGD:8551779|PMID:12541477 20140411 RGD protein:increased expression:inferior nasal concha: 2965 Kdr kinase insert domain receptor gene DOID:3192 neurilemmoma ISO RGD:731018 D RGD:8552334|PMID:17570036 20140421 RGD mRNA:decreased expression:brain: 2965 Kdr kinase insert domain receptor gene DOID:3307 teratoma ISO RGD:731018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 2965 Kdr kinase insert domain receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731018 D RGD:1580568|PMID:16410746 20111219 RGD protein:decreased expression:spinal cord 2965 Kdr kinase insert domain receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 2965 Kdr kinase insert domain receptor gene DOID:3459 breast carcinoma no_association ISO RGD:731018 D RGD:2291952|PMID:15753992 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:3459 breast carcinoma severity ISO RGD:731018 D RGD:2291950|PMID:12378509 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:3512 neurofibrosarcoma ISO RGD:10836 D RGD:8552377|PMID:10554031 20140422 RGD 2965 Kdr kinase insert domain receptor gene DOID:3905 lung carcinoma treatment ISO RGD:10836 D RGD:126925177|PMID:20118536 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:3905 lung carcinoma treatment ISO RGD:10836 D RGD:126925190|PMID:16763608 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731018 D RGD:126925199|PMID:21481963 20210514 RGD protein:increased expression:plasma 2965 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:126908001|PMID:21724587 20210506 RGD DNA:CNVs 2965 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:126925188|PMID:25561764 20210513 RGD DNA, protein:CNVs, increased expression:lung 2965 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:126925189|PMID:16697074 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:126925198|PMID:25975224 20210514 RGD DNA:SNP:promoter:���906T>C (rs2071559) (human) 2965 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:10836 D RGD:126925192|PMID:12415261 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:731018 D RGD:151665104|PMID:32626543 20220310 RGD 2965 Kdr kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:8551843|PMID:22271757 20140415 RGD protein:decreased expression:bone marrow: 2965 Kdr kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:8552335|PMID:21865112 20140421 RGD protein:increased expression:skin: 2965 Kdr kinase insert domain receptor gene DOID:4448 macular degeneration ISO RGD:10836 D RGD:5684426|PMID:21731737 20111220 RGD 2965 Kdr kinase insert domain receptor gene DOID:4448 macular degeneration treatment ISO RGD:731018 D RGD:8549717|PMID:24365177 20140402 RGD DNA:SNPs:: rs4576072,rs6828477(human) 2965 Kdr kinase insert domain receptor gene DOID:4449 macular retinal edema ISO RGD:731018 D RGD:8549772|PMID:23411880 20140404 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor 2965 Kdr kinase insert domain receptor gene DOID:4450 renal cell carcinoma ISO RGD:10836 D RGD:2301756|PMID:17653245 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:4450 renal cell carcinoma ISO RGD:10836 D RGD:8552363|PMID:17332933 20140422 RGD 2965 Kdr kinase insert domain receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10836 D RGD:126925190|PMID:16763608 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:4511 breast angiosarcoma ISO RGD:731018 D RGD:151665102|PMID:32123305 20220310 RGD DNA:mutation:multiple (human) 2965 Kdr kinase insert domain receptor gene DOID:4676 uremia ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 2965 Kdr kinase insert domain receptor gene DOID:4905 pancreatic carcinoma treatment ISO RGD:731018 D RGD:126848809|PMID:17414626 20210504 RGD 2965 Kdr kinase insert domain receptor gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:731018 D RGD:126925218|PMID:21472143 20210517 RGD DNA:SNP:5'utr: (rs11941492) (human) 2965 Kdr kinase insert domain receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:731018 D RGD:126908000|PMID:27323788 20210506 RGD associated with Chronic Hepatitis 2965 Kdr kinase insert domain receptor gene DOID:5419 schizophrenia ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21647420 2965 Kdr kinase insert domain receptor gene DOID:5425 ovarian hyperstimulation syndrome treatment IEP D RGD:126925217|PMID:25151950 20210514 RGD 2965 Kdr kinase insert domain receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:731018 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24728327|PMID:25741868 2965 Kdr kinase insert domain receptor gene DOID:5844 myocardial infarction ISO RGD:731018 D RGD:1581717|PMID:16698275 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:5844 myocardial infarction treatment IDA D RGD:126925214|PMID:25936512 20210514 RGD 2965 Kdr kinase insert domain receptor gene DOID:6039 uveal melanoma disease_progression ISO RGD:731018 D RGD:8549718|PMID:21984395 20140402 RGD 2965 Kdr kinase insert domain receptor gene DOID:630 genetic disease ISO RGD:731018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731018 D RGD:126848814|PMID:24445728 20210504 RGD associated with alcoholic liver cirrhosis;DNA:SNP: :1416A>T (human) 2965 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:126848810|PMID:19177438 20210504 RGD protein:increased expression:liver 2965 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:126848812|PMID:25333267 20210504 RGD protein:decreased expression:liver 2965 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:126848806|PMID:25182707 20210504 RGD DNA:SNPs: :rs1870377, rs2071559, rs2305948 (human) 2965 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:126848813|PMID:23660204 20210504 RGD 2965 Kdr kinase insert domain receptor gene DOID:687 hepatoblastoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:7736 retinal telangiectasia ISO RGD:731018 D RGD:8549759|PMID:23221067 20140404 RGD protein:increased expression,increased phosphorylation:eye: 2965 Kdr kinase insert domain receptor gene DOID:8577 ulcerative colitis ISO RGD:731018 D RGD:5684406|PMID:19013462 20111219 RGD protein:increased expression:colon 2965 Kdr kinase insert domain receptor gene DOID:8717 decubitus ulcer ISO RGD:731018 D RGD:8551845|PMID:12692851 20140415 RGD protein:increased expression:skin: 2965 Kdr kinase insert domain receptor gene DOID:8778 Crohn's disease ISO RGD:731018 D RGD:5684406|PMID:19013462 20111219 RGD protein:increased expression:colon 2965 Kdr kinase insert domain receptor gene DOID:8893 psoriasis ISO RGD:731018 D RGD:8552376|PMID:20071151 20140422 RGD mRNA:increased expression:skin: 2965 Kdr kinase insert domain receptor gene DOID:8893 psoriasis treatment ISO RGD:10836 D RGD:8552361|PMID:23732650 20140422 RGD 2965 Kdr kinase insert domain receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5684414|PMID:17409380 20111219 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage 2965 Kdr kinase insert domain receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10836 D RGD:8551769|PMID:19380367 20140410 RGD associated with Squamous Cell Carcinoma of the Tongue 2965 Kdr kinase insert domain receptor gene DOID:9000099 Experimental Colitis ISO RGD:10836 D RGD:5684406|PMID:19013462 20111219 RGD protein:increased expression:colon 2965 Kdr kinase insert domain receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731018 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:21472143|PMID:35917945 2965 Kdr kinase insert domain receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10836 D RGD:5684399|PMID:19888452 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9000528 Coronary Disease ISO RGD:731018 D RGD:2313728|PMID:16139132 20091012 RGD mRNA, protein:increased expression:ventricle myocardium 2965 Kdr kinase insert domain receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731018 D RGD:2301757|PMID:17465216 20081031 RGD associated with Carcinoma, Renal Cell 2965 Kdr kinase insert domain receptor gene DOID:9000998 Brain Injuries IEP D RGD:5684382|PMID:21307798 20111216 RGD protein:increased expression:cerebral cortex 2965 Kdr kinase insert domain receptor gene DOID:9000998 Brain Injuries IMP D RGD:5684402|PMID:19733172 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization ISO RGD:10836 D RGD:8549738|PMID:22997228 20140403 RGD 2965 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment IDA D RGD:8549747|PMID:15249365 20140403 RGD 2965 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment IMP D RGD:8549716|PMID:12937991 20140402 RGD 2965 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10836 D RGD:8549713|PMID:19085383 20140402 RGD 2965 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731018 D RGD:8549741|PMID:18436847 20140403 RGD 2965 Kdr kinase insert domain receptor gene DOID:9001472 Nasal Polyps ISO RGD:731018 D RGD:8551781|PMID:12515274 20140411 RGD protein:increased expression:inferior nasal concha: 2965 Kdr kinase insert domain receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 2965 Kdr kinase insert domain receptor gene DOID:9001795 Lathyrism IEP D RGD:5684396|PMID:20058324 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 2965 Kdr kinase insert domain receptor gene DOID:9002189 High Myopia ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe Myopia PMID:26422291|PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:9002265 Kidney Neoplasms ISO RGD:10836 D RGD:2301759|PMID:12036917 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 2965 Kdr kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 2965 Kdr kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:2291926|PMID:16835828 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10836 D RGD:5684404|PMID:19233483 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:8549715|PMID:17349140 20140402 RGD 2965 Kdr kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment IMP D RGD:1581593|PMID:15951738 20140403 RGD 2965 Kdr kinase insert domain receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:10836 D RGD:5684533|PMID:21098094 20111221 RGD associated with Colitis;mRNA, protein:increased expression:colon 2965 Kdr kinase insert domain receptor gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 2965 Kdr kinase insert domain receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731018 D RGD:2301761|PMID:11218896 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:9003676 Brain Hypoxia-Ischemia IMP D RGD:5684383|PMID:21277350 20111216 RGD 2965 Kdr kinase insert domain receptor gene DOID:9003871 Venous Thrombosis ISO RGD:731018 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26600200 2965 Kdr kinase insert domain receptor gene DOID:9004009 Reperfusion Injury IEP D RGD:5684415|PMID:17402857 20111219 RGD mRNA:increased expression:hippocampus 2965 Kdr kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 2965 Kdr kinase insert domain receptor gene DOID:9004059 Eye Neoplasms ISO RGD:731018 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 2965 Kdr kinase insert domain receptor gene DOID:9004090 Tufted Angioma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tufted angioma PMID:26422291|PMID:28492532 2965 Kdr kinase insert domain receptor gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:731018 D RGD:2291929|PMID:16557278 20080404 RGD 2965 Kdr kinase insert domain receptor gene DOID:9004283 Transplant Rejection ISO RGD:10836 D RGD:8549738|PMID:22997228 20140403 RGD 2965 Kdr kinase insert domain receptor gene DOID:9004610 Acute Lung Injury IEP D RGD:5684427|PMID:21528367 20111220 RGD associated with Endotoxemia;mRNA, protein:decreased expression:lung 2965 Kdr kinase insert domain receptor gene DOID:9005172 Lung Neoplasms ISO RGD:731018 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 2965 Kdr kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:2291936|PMID:15170218 20080404 RGD inhibition prevents DMBA-induced atypical ductal hyperplasia and carcinoma in situ 2965 Kdr kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731018 D RGD:5684399|PMID:19888452 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313724|PMID:16741021 20091012 RGD mRNA:decreased expression:heart 2965 Kdr kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5684538|PMID:22121831 20111221 RGD mRNA:increased expression:retina 2965 Kdr kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10836 D RGD:2313725|PMID:16816123 20091012 RGD mRNA:decreased expression:skeletal muscle 2965 Kdr kinase insert domain receptor gene DOID:9005708 Hand-Foot Syndrome treatment ISO RGD:731018 D RGD:8552374|PMID:20630084 20140422 RGD DNA:polymorphism:cds:p.H472Q(human) 2965 Kdr kinase insert domain receptor gene DOID:9005968 Neuralgia IEP D RGD:5684389|PMID:20705122 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9007096 Stroke IMP D RGD:5684395|PMID:20101028 20111219 RGD 2965 Kdr kinase insert domain receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:731018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 2965 Kdr kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731018 D RGD:2301252|PMID:12485477 20081031 RGD mRNA:increased expression:endometrium 2965 Kdr kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731018 D RGD:2301760|PMID:11745191 20081031 RGD 2965 Kdr kinase insert domain receptor gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731018 D RGD:8551771|PMID:17651148 20140411 RGD protein:increased expression:nasal cavity of mucosa: 2965 Kdr kinase insert domain receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731018 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20346928|PMID:35917945 2965 Kdr kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:11807987|PMID:18931684|PMID:24033266|PMID:24728327 2965 Kdr kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:731018 D RGD:7240710 20230517 OMIM 2965 Kdr kinase insert domain receptor gene DOID:9008821 Otitis Media with Effusion IEP D RGD:8547977|PMID:12875575 20140304 RGD mRNA:increased expression:mucosa of the middle ear; 2965 Kdr kinase insert domain receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731018 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:20135347|PMID:35917945 2965 Kdr kinase insert domain receptor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10836 D RGD:8551844|PMID:14511401 20140415 RGD 2965 Kdr kinase insert domain receptor gene DOID:9256 colorectal cancer no_association ISO RGD:731018 D RGD:126848807|PMID:22182247 20210504 RGD DNA:SNPs:exons:rs1870377, rs2305948 (human) 2965 Kdr kinase insert domain receptor gene DOID:9256 colorectal cancer treatment ISO RGD:731018 D RGD:126848807|PMID:22182247 20210504 RGD DNA:SNPs:promoter:rs10013228, rs2071559 (human) 2965 Kdr kinase insert domain receptor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731018 D RGD:126925191|PMID:16480593 20210513 RGD 2965 Kdr kinase insert domain receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731018 D RGD:5684411|PMID:17898089 20111219 RGD protein:decreased expression:skin, blood vessel 2966 Khk ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:10837 D RGD:13782360|PMID:29870677 20180907 RGD 2966 Khk ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7833921|PMID:18035330 2966 Khk ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:7240710 20130221 OMIM 2966 Khk ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:19237742|PMID:25741868|PMID:28492532|PMID:7833921|PMID:9799106 2966 Khk ketohexokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 2966 Khk ketohexokinase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:10837 D RGD:13673909|PMID:29534502 20180705 RGD 2966 Khk ketohexokinase gene DOID:630 genetic disease ISO RGD:69145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2966 Khk ketohexokinase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302253|PMID:6088170 20090429 RGD 2966 Khk ketohexokinase gene DOID:9869 hereditary fructose intolerance syndrome treatment ISO RGD:10837 D RGD:13673910|PMID:29533924 20180705 RGD 2967 Zfp354a zinc finger protein 354A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 2967 Zfp354a zinc finger protein 354A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2967 Zfp354a zinc finger protein 354A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1353304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 2967 Zfp354a zinc finger protein 354A gene DOID:4440 seminoma ISO RGD:1353304 D RGD:2291889|PMID:9788609 20080403 RGD mRNA:increased expression:testis 2967 Zfp354a zinc finger protein 354A gene DOID:630 genetic disease ISO RGD:1353304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2967 Zfp354a zinc finger protein 354A gene DOID:8719 in situ carcinoma ISO RGD:1353304 D RGD:2291889|PMID:9788609 20080403 RGD mRNA:increased expression:testis 2967 Zfp354a zinc finger protein 354A gene DOID:9004009 Reperfusion Injury IEP D RGD:1300202|PMID:8382778 20080403 RGD mRNA:decreased expression:kidney 2968 Uhmk1 U2AF homology motif kinase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 2968 Uhmk1 U2AF homology motif kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344907 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 2968 Uhmk1 U2AF homology motif kinase 1 gene DOID:630 genetic disease ISO RGD:1344907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2968 Uhmk1 U2AF homology motif kinase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344907 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 2968 Uhmk1 U2AF homology motif kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344907 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 2969 Klk1 kallikrein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:9068941 20220825 RGD associated with Diabetes Mellitus, Experimental PMID:15117887|REF_RGD_ID:1641802 2969 Klk1 kallikrein 1 gene DOID:10763 hypertension IEP D RGD:1358144|PMID:15809361 20070822 RGD mRNA:decreased expression:kidney 2969 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14568997 2969 Klk1 kallikrein 1 gene DOID:10763 hypertension no_association ISO RGD:1349866 D RGD:1581751|PMID:15167446 20061024 RGD 2969 Klk1 kallikrein 1 gene DOID:10763 hypertension susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15905889|REF_RGD_ID:1641795 2969 Klk1 kallikrein 1 gene DOID:3021 acute kidney failure ISO RGD:1349866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18227104 2969 Klk1 kallikrein 1 gene DOID:4989 pancreatitis IEP D RGD:1641805|PMID:12770935 20070822 RGD protein:increased expression:pancreas 2969 Klk1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12411458 2969 Klk1 kallikrein 1 gene DOID:630 genetic disease ISO RGD:1349866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2969 Klk1 kallikrein 1 gene DOID:783 end stage renal disease ISO RGD:1349866 D RGD:1581753|PMID:11849458 20061024 RGD 2969 Klk1 kallikrein 1 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1349866 D RGD:1581752|PMID:15086490 20061024 RGD associated with Vesico-Ureteral Reflux 2969 Klk1 kallikrein 1 gene DOID:9000784 Fibrosis ISO RGD:1349866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18227104 2969 Klk1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19516248 2969 Klk1 kallikrein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17137568|REF_RGD_ID:1641797 2969 Klk1 kallikrein 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:1641806|PMID:12746231 20070822 RGD 2969 Klk1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:7240710 20171011 OMIM 2969 Klk1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of PMID:11912256|PMID:15765151 2969 Klk1 kallikrein 1 gene DOID:9005372 Inflammation IDA D RGD:1641800|PMID:17015177 20070822 RGD 2969 Klk1 kallikrein 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1641812|PMID:10604522 20070822 RGD mRNA:decreased expression:myocardium 2969 Klk1 kallikrein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1349866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16129698 2969 Klk1 kallikrein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 2976 Klrc1 killer cell lectin like receptor C1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353186 D RGD:40400745|PMID:17553896 20201109 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer c 2976 Klrc1 killer cell lectin like receptor C1 gene DOID:630 genetic disease ISO RGD:1353186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2976 Klrc1 killer cell lectin like receptor C1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353186 D RGD:9068941 20201118 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:16322112|REF_RGD_ID:40818296 2976 Klrc1 killer cell lectin like receptor C1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353186 D RGD:40400920|PMID:31218578 20201106 RGD 2976 Klrc1 killer cell lectin like receptor C1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353186 D RGD:40818079|PMID:20550548 20201110 RGD 2976 Klrc1 killer cell lectin like receptor C1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1353186 D RGD:9068941 20201105 RGD protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) PMID:28328926|REF_RGD_ID:40400737 2977 Klrc2 killer cell lectin like receptor C2 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1349370 D RGD:11554173 20170630 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 2977 Klrc2 killer cell lectin like receptor C2 gene DOID:630 genetic disease ISO RGD:1349370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2978 Klrd1 killer cell lectin like receptor D1 gene DOID:630 genetic disease ISO RGD:735531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2980 Kng2 kininogen 2 gene DOID:0060575 3MC syndrome 1 ISO RGD:1603713 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 2980 Kng2 kininogen 2 gene DOID:0060903 thrombosis ISO RGD:1603713 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 2980 Kng2 kininogen 2 gene DOID:0080941 acquired angioedema ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 2980 Kng2 kininogen 2 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:1600407|PMID:7901207 20070307 RGD DNA:misense mutation:cds: 2980 Kng2 kininogen 2 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:7240710 20130221 OMIM 2980 Kng2 kininogen 2 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total PMID:1202089|PMID:12576314|PMID:17522339|PMID:1968772|PMID:25741868|PMID:32202057|PMID:7901207 2980 Kng2 kininogen 2 gene DOID:10763 hypertension ISO RGD:1603713 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 2980 Kng2 kininogen 2 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1603713 D RGD:11059888|PMID:26098644 20160418 RGD protein:increased expression:serum 2980 Kng2 kininogen 2 gene DOID:1205 allergic disease ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 2980 Kng2 kininogen 2 gene DOID:14735 hereditary angioedema ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 2980 Kng2 kininogen 2 gene DOID:3021 acute kidney failure ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:513486|PMID:3015452 2980 Kng2 kininogen 2 gene DOID:4404 occupational dermatitis ISO RGD:1603713 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 2980 Kng2 kininogen 2 gene DOID:630 genetic disease ISO RGD:1603713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2980 Kng2 kininogen 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2535056 2980 Kng2 kininogen 2 gene DOID:9000197 Edema ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9719496 2980 Kng2 kininogen 2 gene DOID:9000197 Edema treatment IEP D RGD:10450565|PMID:20860667 20160418 RGD 2980 Kng2 kininogen 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 2980 Kng2 kininogen 2 gene DOID:9000641 Pain ISO RGD:1603713 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:1281941|PMID:3951883|PMID:10445233|PMID:10543429|PMID:16076651|PMID:20018876|PMID:29655911 2980 Kng2 kininogen 2 gene DOID:9001039 Leukocytosis IDA D RGD:11059893|PMID:5116037 20160418 RGD 2980 Kng2 kininogen 2 gene DOID:9001371 Eosinophilia IDA D RGD:11059896|PMID:1937926 20160418 RGD 2980 Kng2 kininogen 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18054572 2980 Kng2 kininogen 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1603713 D RGD:2311541|PMID:17065357 20090723 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human) 2980 Kng2 kininogen 2 gene DOID:9002211 Hyperalgesia IDA D RGD:11059894|PMID:20868656 20160418 RGD 2980 Kng2 kininogen 2 gene DOID:9002211 Hyperalgesia ISO RGD:1603713 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:2010815|PMID:2128375|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808|PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:21521205 2980 Kng2 kininogen 2 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:7240710 20210616 OMIM 2980 Kng2 kininogen 2 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 6 PMID:25741868|PMID:31087670|PMID:33114181 2980 Kng2 kininogen 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:11059895|PMID:1996642 20160418 RGD 2980 Kng2 kininogen 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:1600547|PMID:9214434 20070313 RGD peptidoglycan-polysaccharide-induced arthritis in Lewis rats 2980 Kng2 kininogen 2 gene DOID:9002554 Tachycardia ISO RGD:1603713 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 2980 Kng2 kininogen 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1603713 D RGD:11059890|PMID:25472531 20160418 RGD DNA:SNP: :rs710446 (human) 2980 Kng2 kininogen 2 gene DOID:9005236 Drug Eruptions ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1371395|PMID:3034372 2980 Kng2 kininogen 2 gene DOID:9006024 Hypotension ISO RGD:1603713 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:1334354|PMID:2404862|PMID:6675575|PMID:9249246|PMID:10805402|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289 2980 Kng2 kininogen 2 gene DOID:9006205 Animal Disease Models ISO RGD:1603713 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 2980 Kng2 kininogen 2 gene DOID:9007001 Bradycardia ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1281941 2980 Kng2 kininogen 2 gene DOID:9007073 Cough ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22693178 2980 Kng2 kininogen 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1603713 D RGD:10411883|PMID:26159646 20151110 RGD DNA:SNP: :rs710446(human) 2980 Kng2 kininogen 2 gene DOID:9007251 Hyperesthesia ISO RGD:1603713 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:8190269 2980 Kng2 kininogen 2 gene DOID:9007278 Anaphylaxis ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7623993 2980 Kng2 kininogen 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603713 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:30685357 2980 Kng2 kininogen 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2535056|PMID:7856280 2980 Kng2 kininogen 2 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1603713 D RGD:10411885|PMID:19716087 20151110 RGD DNA:SNPs: : 2980 Kng2 kininogen 2 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 2980 Kng2 kininogen 2 gene DOID:9009039 Hyperemia ISO RGD:1603713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 2980 Kng2 kininogen 2 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:1603713 D RGD:10411880|PMID:23808406 20151110 RGD protein:increased expression:vitreous,serum: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10930038|PMID:12211074|PMID:13678655|PMID:20737008 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:1350859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:24740626|PMID:25157968|PMID:25808193|PMID:8456858 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468812|PMID:17703371 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050700 cardiomyopathy no_association ISO RGD:1550157 D RGD:11568677|PMID:24259500 20161212 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050855 renal fibrosis treatment IMP D RGD:11060152|PMID:22074740 20160419 RGD associated with Ureteral Obstruction 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma induced IAGP D RGD:11568697|PMID:8446626 20161213 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1350859 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1350859 D RGD:1600471|PMID:16474404 20140219 RGD DNA:missense mutations:CDS:p.G60R, p.D153V (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16474404|PMID:16474405|PMID:16987887|PMID:17056636|PMID:17704260|PMID:17875937|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20186801|PMID:20949621|PMID:21686179|PMID:21784453|PMID:21797849|PMID:23059812|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25359213|PMID:25741868|PMID:26242988|PMID:27763634|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29517769|PMID:8234268 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:7240710 20130221 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:10590419|PMID:10681080|PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20112233|PMID:20186801|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:23321623|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24703799|PMID:24803665|PMID:25326635|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26242988|PMID:26822237|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31160609|PMID:32078254|PMID:33452774|PMID:8246952 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:7240710 20190315 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1550157 D RGD:11060138|PMID:21451123 20160419 RGD DNA:missense mutation: :p.G12D (mouse) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:25157968|PMID:26242988|PMID:28492532|PMID:6695174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0080365 endometrial hyperplasia ISO RGD:1350859 D RGD:2314912|PMID:19419940 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20526288|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26521233|PMID:26580448|PMID:26623049|PMID:26822237|PMID:26970110|PMID:26985062|PMID:27450488|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:33452774|PMID:3627975|PMID:7773929|PMID:7877967|PMID:8234268|PMID:8246952|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17576681|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20186801|PMID:20526288|PMID:20570890|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20972464|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22495831|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23325582|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26521233|PMID:26623049|PMID:26822237|PMID:26970110|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:32581362|PMID:32934698|PMID:33452774|PMID:3627975|PMID:6695174|PMID:7773929|PMID:8234268|PMID:8246952|PMID:8439212|PMID:9536098 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:12110640|PMID:14982869|PMID:17056636|PMID:17324647|PMID:18628094|PMID:20652921|PMID:20949621|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29948256 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1350859 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:7240710 20150909 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1350859 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17056636|PMID:18958496|PMID:21784453|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8234268 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:7240710 20140911 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:17875939|PMID:18386799|PMID:18456719|PMID:18628094|PMID:19396835|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21797849|PMID:21871821|PMID:23059812|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29948256|PMID:30732632|PMID:8246952 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683711 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:7240710 20141015 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:7240710 20190918 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24803665|PMID:24836576|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29948256|PMID:30289595|PMID:30448735|PMID:30891959|PMID:3122217|PMID:32934698|PMID:3627975|PMID:8456858 2981 Kras KRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer ISS RGD:1550157 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1350859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:7240710 20220209 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18594010|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26242988|PMID:26521233|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:1350859 D RGD:1600477|PMID:17056636 20070309 RGD Costello syndrome, OMIM:218040 2981 Kras KRAS proto-oncogene, GTPase gene DOID:10763 hypertension ISO RGD:1550157 D RGD:1581757|PMID:15864294 20061024 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:29644616 2981 Kras KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:1600467|PMID:1553789 20070309 RGD transitional cell bladder carcinoma, OMIM:109800 2981 Kras KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:7240710 20130221 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:1553789|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29948256|PMID:6695174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:1350859 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:26619011|PMID:30891959 2981 Kras KRAS proto-oncogene, GTPase gene DOID:12930 dilated cardiomyopathy ISO RGD:1550157 D RGD:1581757|PMID:15864294 20061024 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISO RGD:1350859 D RGD:153344580|PMID:29183007 20220829 RGD protein:increased expression:lung (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29948256|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISS RGD:1550157 D RGD:13592920 20180518 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 2981 Kras KRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10673434|PMID:26595770 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:2314909|PMID:19820367 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:7240710 20180711 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19435901|PMID:25125259 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14520703|PMID:19424582|PMID:21699781|PMID:24694877|PMID:25961927|PMID:26390243 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:5490965|PMID:19506583 20110921 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:5490966|PMID:18772397 20110921 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:7240710 20130221 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1350859 D RGD:1581761|PMID:11115351 20061024 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:1350859 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 2981 Kras KRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:1350859 D RGD:2314836|PMID:19303097 20091130 RGD mRNA:increased expression:urinary bladder 2981 Kras KRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:1350859 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:2870 endometrial adenocarcinoma IAGP D RGD:1600499|PMID:10775052 20070309 RGD DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16474405|PMID:16618717|PMID:16987887|PMID:17056636|PMID:17384584|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21686179|PMID:21784453|PMID:21975775|PMID:23014527|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25359213|PMID:25741868|PMID:28492532|PMID:29493581|PMID:31666701|PMID:35658005|PMID:6320174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 2981 Kras KRAS proto-oncogene, GTPase gene DOID:299 adenocarcinoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11745231|PMID:16247444|PMID:20101149 2981 Kras KRAS proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:20565773 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:1350859 D RGD:13702872|PMID:19179066 20180720 RGD mRNA:decreased expression:brain 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma treatment ISO RGD:1550157 D RGD:13702861|PMID:16166301 20180719 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:1600476|PMID:16247081 20070309 RGD sporadic pilocytic astrocytoma, OMIM:137800 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:1550157 D RGD:13702858|PMID:24038521 20180719 RGD DNA:mutation:cds:p.G12D(mouse) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1350859 D RGD:13702477|PMID:22207524 20180718 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1550157 D RGD:13702860|PMID:19435821 20180719 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3078 anaplastic astrocytoma ISO RGD:1350859 D RGD:13702872|PMID:19179066 20180720 RGD mRNA:decreased expression:brain 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3121 gallbladder cancer ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23014527|PMID:23182985|PMID:23406027|PMID:25044103|PMID:25157968|PMID:31666701|PMID:35658005|PMID:6320174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3307 teratoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3458 breast adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468812|PMID:17603482|PMID:17603483|PMID:17703371 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1350859 D RGD:1600472|PMID:16474405 20070309 RGD Noonan syndrome type 3, OMIM:609942 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10590419|PMID:10681080|PMID:12110640|PMID:12460918|PMID:14982869|PMID:16361624|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17384584|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20186801|PMID:20526288|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949621|PMID:21062266|PMID:21228335|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:22488932|PMID:22495831|PMID:22980975|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24703799|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31117243|PMID:32078254|PMID:33452774|PMID:8234268|PMID:8246952 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1550157 D RGD:11060134|PMID:25359213 20160419 RGD DNA:missense mutation:exon:p.V14I (mouse) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1350859 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25347530|PMID:30654191 2981 Kras KRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:1350859 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3883 Lynch syndrome ISO RGD:1350859 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3905 lung carcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:6320174|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25157968|PMID:26242988|PMID:26619011|PMID:28492532|PMID:3122217|PMID:6695174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350859 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21336183|PMID:22617245|PMID:22787409|PMID:22887466|PMID:23435014|PMID:24688052|PMID:27588471 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350859 D RGD:5133242|PMID:20951313 20110608 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:23548132|PMID:24033266|PMID:24382853|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:8143615|PMID:8425762|PMID:22071784|PMID:22135231|PMID:24045185|PMID:25184679|PMID:26463840 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:1600465|PMID:11745231 20070309 RGD DNA:point mutation:CDS:p.G12C (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:6320174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:35658005|PMID:6320174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 2981 Kras KRAS proto-oncogene, GTPase gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:1350859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:1350859 D RGD:2314915|PMID:8816895 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:1350859 D RGD:2314914|PMID:11851621 20091208 RGD mRNA:increased expression:kidney 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4851 pilocytic astrocytoma ISO RGD:1350859 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic PMID:12460918|PMID:15696205|PMID:16247081|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4905 pancreatic carcinoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4905 pancreatic carcinoma ISS RGD:1550157 D RGD:13592920 20180518 MouseDO OMIM:260350 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma IMP D RGD:11075076|PMID:26059825 20160505 RGD DNA:mutations:cds: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1350859 D RGD:126848756|PMID:33387086 20210428 RGD DNA:mutations 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma ISS RGD:1550157 D RGD:13592920 20180518 MouseDO 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1350859 D RGD:14398746|PMID:24139215 20190426 RGD DNA:mutations:: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:4947 cholangiocarcinoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8968066|PMID:22561520 2981 Kras KRAS proto-oncogene, GTPase gene DOID:5517 stomach carcinoma ISO RGD:1350859 D RGD:1600468|PMID:7773929 20070309 RGD gastric cancer, OMIM:137215 2981 Kras KRAS proto-oncogene, GTPase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1550157 D RGD:11060136|PMID:23673656 20160419 RGD DNA:missense mutation: :p.G12D (mouse) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350859 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 2981 Kras KRAS proto-oncogene, GTPase gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16987887|PMID:17056636|PMID:17332249|PMID:17384584|PMID:17551339|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24356096|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24728327|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26037647|PMID:26242988|PMID:26623049|PMID:26854235|PMID:28492532|PMID:28650561|PMID:29493581|PMID:3122217|PMID:3627975 2981 Kras KRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:657 adenoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8761429|PMID:10545420|PMID:10813127|PMID:25851810 2981 Kras KRAS proto-oncogene, GTPase gene DOID:6726 fibrillary astrocytoma ISO RGD:1350859 D RGD:13702872|PMID:19179066 20180720 RGD mRNA:decreased expression:brain 2981 Kras KRAS proto-oncogene, GTPase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 2981 Kras KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11286481|PMID:11563603 2981 Kras KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:1350859 D RGD:14398750|PMID:29275358 20190426 RGD mRNA,protein:increased expression:liver 2981 Kras KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma induced IAGP D RGD:11568697|PMID:8446626 20161213 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:7235 pancreatic mucinous cystadenoma severity ISO RGD:1350859 D RGD:14398747|PMID:28570009 20190426 RGD DNA:mutations:cds: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:767 muscular atrophy IEP D RGD:151361116|PMID:14638460 20220223 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 2981 Kras KRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1350859 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20147967|PMID:20570890|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21398618|PMID:25157968|PMID:25251940|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 2981 Kras KRAS proto-oncogene, GTPase gene DOID:8634 prostate carcinoma in situ ISO RGD:1550157 D RGD:2314913|PMID:19117991 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:8683 myeloid sarcoma ISO RGD:1350859 D RGD:11060142|PMID:23564351 20160419 RGD associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:11397402 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:1350859 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635384 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1550157 D RGD:11570402|PMID:3552201 20161214 RGD associated with Fibrosarcoma;mRNA,protein:decreased expression:: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350859 D RGD:14398745|PMID:29032374 20190426 RGD associated with colorectal cancer;DNA:mutation: : 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:11086960|PMID:26210240 20190426 RGD associated with colorectal cancer;DNA:mutations: : 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:14398751|PMID:27264476 20190429 RGD associated with colorectal cancer; DNA:mutation:cds: 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:1350859 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8603461 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms disease_progression IEP D RGD:2315050|PMID:19533683 20220706 RGD mRNA:increased expression:liver (rat) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9205081|PMID:10813127|PMID:21311774|PMID:25851810|PMID:26390243 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1350859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002265 Kidney Neoplasms IDA D RGD:11570401|PMID:9020896 20161214 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350859 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550157 D RGD:2314913|PMID:19117991 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:1350859 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21372221 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350859 D RGD:2314911|PMID:19430562 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:12800193|PMID:12839936|PMID:17192441|PMID:18372904|PMID:19424582 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:1350859 D RGD:11554173 20200422 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1350859 D RGD:2314838|PMID:14984964 20091130 RGD DNA:point mutation:exon (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9003694 Cecal Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1350859 D RGD:2314910|PMID:19542870 20091208 RGD associated with Ovarian Neoplasms 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9004268 Uterine Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17325976 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3078959 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1350859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17056636|PMID:17468812|PMID:17704260|PMID:18386799|PMID:20949621|PMID:21909114|PMID:22211815|PMID:24033266|PMID:24037001|PMID:24803665|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29402968|PMID:32078254|PMID:33452774 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1350859 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:7614698|PMID:7750092|PMID:8508514|PMID:8597069|PMID:8761429|PMID:10223196|PMID:10545420|PMID:10874023|PMID:11641043|PMID:11745231|PMID:11884234|PMID:12376484|PMID:12725029|PMID:16247444|PMID:16271038|PMID:16289808|PMID:16410370|PMID:16823377|PMID:17233834|PMID:17290066|PMID:17325976|PMID:18062963|PMID:18758463|PMID:18927287|PMID:19336973|PMID:19424582|PMID:19555203|PMID:20101149|PMID:21519798|PMID:22028818|PMID:25851810|PMID:26390243|PMID:29247004|PMID:33380422 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1350859 D RGD:7240710 20130221 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1550157 D RGD:11568678|PMID:19966866 20161212 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma IAGP D RGD:1598680|PMID:11295286 20061212 RGD A to T transversion; Gln to His substitution 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9006205 Animal Disease Models ISO RGD:1350859 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:26390243|PMID:27588471|PMID:33380422 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1350859 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:1550157 D RGD:153350155|PMID:34238924 20220914 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350859 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:1350859 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:10629081|PMID:12211074 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:11062095|PMID:8913708 20160425 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350859 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27510461 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31891627|PMID:32934698|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8456858 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007653 Multiple Abnormalities ISO RGD:1350859 D RGD:1600477|PMID:17056636 20070309 RGD Costello syndrome, OMIM:218040 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007702 Carcinogenesis ISO RGD:1350859 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:26595770|PMID:29247004 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350859 D RGD:2314907|PMID:19960433 20091208 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350859 D RGD:4143515|PMID:19078924 20100929 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:1350859 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:24549645|PMID:25741868 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350859 D RGD:11060146|PMID:23640097 20160419 RGD DNA:missense mutations: :p.G12C, p.G12D, p.G13D (human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20565773|PMID:21369707|PMID:25280562 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:1553789|PMID:15696205|PMID:15842656|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20147967|PMID:20526288|PMID:20570890|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:32934698|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1550157 D RGD:11568690|PMID:25280562 20161213 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:1600466|PMID:3627975 20070309 RGD human breast adenocarcinoma cell line, OMIM:114480 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:12110640|PMID:14645534|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:18456719|PMID:18628094|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21871821|PMID:22495831|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29948256|PMID:31117243|PMID:9362444 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29948256|PMID:6695174 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:11060151|PMID:21283084 20160419 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:1600469|PMID:8955068 20070309 RGD OMIM:601626 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:7240710 20150909 OMIM 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26619011|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8955068 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350859 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19679400|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23182985|PMID:25157968 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350859 D RGD:14398748|PMID:22971512 20190426 RGD DNA:missense mutations:cds:p.GLY12ASP,GLY12Val,GLY13ALA,GLY13ASP(human) 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:1581756|PMID:16321859 20061024 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350859 D RGD:11060148|PMID:17910045 20160419 RGD 2981 Kras KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1350859 D RGD:11060149|PMID:25917266 20160419 RGD 2982 Mafb MAF bZIP transcription factor B gene DOID:0080600 COVID-19 ISO RGD:732545 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2982 Mafb MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:7240710 20141015 OMIM 2982 Mafb MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy PMID:20436469|PMID:22387013|PMID:24989131|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30208859 2982 Mafb MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732545 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism 2982 Mafb MAF bZIP transcription factor B gene DOID:2234 focal epilepsy ISO RGD:732545 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 2982 Mafb MAF bZIP transcription factor B gene DOID:630 genetic disease ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22387013|PMID:24989131|PMID:25741868|PMID:28492532 2982 Mafb MAF bZIP transcription factor B gene DOID:9004102 Duane Retraction Syndrome 1 ISO RGD:732545 D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Duane syndrome type 1 PMID:27181683 2982 Mafb MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:7240710 20200304 OMIM 2982 Mafb MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness PMID:27181683 2982 Mafb MAF bZIP transcription factor B gene DOID:9296 cleft lip ISO RGD:732545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 2984 Krt8 keratin 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:735536 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:15090596|PMID:25741868 2984 Krt8 keratin 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 2984 Krt8 keratin 8 gene DOID:1883 hepatitis C ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to PMID:11372009|PMID:15090596|PMID:15235035|PMID:25741868|PMID:28492532|PMID:33116287 2984 Krt8 keratin 8 gene DOID:299 adenocarcinoma ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2984 Krt8 keratin 8 gene DOID:4450 renal cell carcinoma ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 2984 Krt8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20538000 2984 Krt8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:14401583|PMID:15368451 20190513 RGD protein:increased phosphorylation:liver (human) 2984 Krt8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:1600062|PMID:11372009 20070227 RGD 2984 Krt8 keratin 8 gene DOID:630 genetic disease ISO RGD:735536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2984 Krt8 keratin 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 2984 Krt8 keratin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 2984 Krt8 keratin 8 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735536 D RGD:14401583|PMID:15368451 20190513 RGD protein:increased phosphorylation:liver (human) 2984 Krt8 keratin 8 gene DOID:9004590 Acute Liver Failure ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 2984 Krt8 keratin 8 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:11372009|PMID:12724528|PMID:15235035|PMID:33116287|PMID:9011570 2984 Krt8 keratin 8 gene DOID:9007188 Liver Neoplasms ISO RGD:735536 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 2984 Krt8 keratin 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735536 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 2984 Krt8 keratin 8 gene DOID:9007543 Familial Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 2984 Krt8 keratin 8 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735536 D RGD:14398758|PMID:16818723 20190513 RGD DNA:missense mutation:cds:p.S73A (human gene in a mouse model) 2984 Krt8 keratin 8 gene DOID:9008939 Breast Neoplasms ISO RGD:735536 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20061804 2985 Zfp386 zinc finger protein 386 (Kruppel-like) gene DOID:1059 intellectual disability ISO RGD:1352204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 2985 Zfp386 zinc finger protein 386 (Kruppel-like) gene DOID:630 genetic disease ISO RGD:1352204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2987 Lalba lactalbumin, alpha gene DOID:219 colon cancer onset ISO RGD:10853 D RGD:38599174|PMID:25036966 20200911 RGD 2987 Lalba lactalbumin, alpha gene DOID:2326 gastroenteritis ISO RGD:737361 D RGD:38599173|PMID:1327323 20200911 RGD protein:decreased expression:serum (human) 2987 Lalba lactalbumin, alpha gene DOID:630 genetic disease ISO RGD:737361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2988 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:10854 D RGD:7207425|PMID:15367484 20130201 RGD 2988 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15367484 2988 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:7207425|PMID:15367484 20130201 RGD 2988 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:7240710 20130221 OMIM 2988 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:14136829|PMID:15367484|PMID:15372515|PMID:16097004|PMID:16199547|PMID:16898484|PMID:16912710|PMID:17256789|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20507940|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:24033266|PMID:25349199|PMID:25741868|PMID:26108971|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27004562|PMID:27858192|PMID:28188379|PMID:28476686|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30013592|PMID:30295827|PMID:31959872|PMID:32295525|PMID:32860008|PMID:33749661|PMID:9536098 2988 Lamb2 laminin subunit beta 2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 2988 Lamb2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:7240710 20140911 OMIM 2988 Lamb2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:14136829|PMID:15367484|PMID:16097004|PMID:16912710|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27858192|PMID:28492532|PMID:29127259|PMID:30295827|PMID:7885444|PMID:9536098 2988 Lamb2 laminin subunit beta 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 2988 Lamb2 laminin subunit beta 2 gene DOID:1184 nephrotic syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15367484|PMID:17576681|PMID:18672223|PMID:2206901|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30295827|PMID:33749661|PMID:9536098 2988 Lamb2 laminin subunit beta 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 2988 Lamb2 laminin subunit beta 2 gene DOID:1561 cognitive disorder ISO RGD:733412 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30226399 2988 Lamb2 laminin subunit beta 2 gene DOID:2527 nephrosis ISS RGD:10854 D RGD:13592920 20180518 MouseDO 2988 Lamb2 laminin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 2988 Lamb2 laminin subunit beta 2 gene DOID:557 kidney disease ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18594871|PMID:20556798|PMID:21763483|PMID:23349334|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:27858192|PMID:28492532 2988 Lamb2 laminin subunit beta 2 gene DOID:576 proteinuria IMP D RGD:7207433|PMID:21511833 20130204 RGD 2988 Lamb2 laminin subunit beta 2 gene DOID:630 genetic disease ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 2988 Lamb2 laminin subunit beta 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:733412 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 2988 Lamb2 laminin subunit beta 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7207449|PMID:19864299 20130205 RGD 2988 Lamb2 laminin subunit beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 2988 Lamb2 laminin subunit beta 2 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:733412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15367484 2988 Lamb2 laminin subunit beta 2 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:733412 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25741868|PMID:28492532 2989 Lamp1 lysosomal-associated membrane protein 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10855 D RGD:40818252|PMID:21887255 20201115 RGD protein:increased expression:lung, natural killer cell (mouse) 2989 Lamp1 lysosomal-associated membrane protein 1 gene DOID:2222 factor X deficiency ISO RGD:737544 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 2989 Lamp1 lysosomal-associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:737544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0050437 Danon disease IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:7240710 20130221 OMIM 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy PMID:10972294|PMID:12112061|PMID:14598234|PMID:15253947|PMID:15673802|PMID:15792868|PMID:15889279|PMID:15907287|PMID:16144992|PMID:16190986|PMID:16199547|PMID:16217705|PMID:16565504|PMID:17576681|PMID:17899313|PMID:18061453|PMID:18282207|PMID:18312451|PMID:18555174|PMID:18990578|PMID:19318653|PMID:19373884|PMID:19533775|PMID:20173215|PMID:20445193|PMID:20960602|PMID:21070164|PMID:21415759|PMID:21520333|PMID:21896538|PMID:22074992|PMID:22695892|PMID:23168931|PMID:23785128|PMID:23955649|PMID:24033266|PMID:24503780|PMID:24691104|PMID:25091525|PMID:25326635|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25826782|PMID:26748608|PMID:27179547|PMID:27460667|PMID:27532257|PMID:27600940|PMID:27678261|PMID:27816333|PMID:28255936|PMID:28491796|PMID:28492532|PMID:28771489|PMID:28822614|PMID:28874292|PMID:29753918|PMID:29875424|PMID:29915097|PMID:29961767|PMID:30019023|PMID:30108015|PMID:30847666|PMID:3087571|PMID:30984009|PMID:31464081|PMID:31638414|PMID:31729179|PMID:33495597|PMID:34906502|PMID:6408499|PMID:6450334|PMID:8504498|PMID:9536098 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19533775|PMID:23785128|PMID:24033266|PMID:24503780|PMID:25091525|PMID:25741868|PMID:26748608|PMID:27600940|PMID:28492532|PMID:28771489|PMID:30984009|PMID:31464081|PMID:33495597 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735952 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0081292 traumatic brain injury IEP D RGD:13703062|PMID:28365875 20180731 RGD protein:increased expression:hippocampus: 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:1059 intellectual disability ISO RGD:735952 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23785128|PMID:24033266|PMID:25091525|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28771489 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:11446 sciatic neuropathy treatment IEP D RGD:13703060|PMID:30015858 20180731 RGD 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735952 D RGD:1580822|PMID:16144992 19990101 RGD 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735952 D RGD:1580826|PMID:15673802 19990101 RGD 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15673802|PMID:16199547|PMID:16217705|PMID:17576681|PMID:18282207|PMID:18555174|PMID:19318653|PMID:19373884|PMID:19533775|PMID:21415759|PMID:24033266|PMID:24503780|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25741868|PMID:26748608|PMID:27532257|PMID:28492532|PMID:29753918|PMID:9536098 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:12849 autistic disorder ISO RGD:735952 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21415759|PMID:24033266|PMID:25741868|PMID:28492532 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:13580 cholestasis IMP D RGD:13703118|PMID:28124283 20180803 RGD in hemizygote mutant male (LAMP2y/-) 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:1561 cognitive disorder IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:1824 status epilepticus ISO RGD:735952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19272430 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:2475 chronic conjunctivitis IMP D RGD:13703117|PMID:29720683 20180803 RGD in hemizygote mutant male (LAMP2y/-) 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:5844 myocardial infarction IEP D RGD:11557988|PMID:24427319 20161116 RGD mRNA:increased expression:plantaris 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:10857 D RGD:11560530|PMID:22850625 20161109 RGD protein:decreased expression:pancreas 2990 Lamp2 lysosomal-associated membrane protein 2 gene DOID:9007905 Trifascicular Block ISO RGD:735952 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Trifascicular block on electrocardiogram PMID:28492532 2991 Anpep alanyl aminopeptidase, membrane gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:737099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 2991 Anpep alanyl aminopeptidase, membrane gene DOID:11054 urinary bladder cancer ISO RGD:737099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 2991 Anpep alanyl aminopeptidase, membrane gene DOID:2717 Bloom syndrome ISO RGD:737099 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 2991 Anpep alanyl aminopeptidase, membrane gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:737099 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 2991 Anpep alanyl aminopeptidase, membrane gene DOID:630 genetic disease ISO RGD:737099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2991 Anpep alanyl aminopeptidase, membrane gene DOID:9256 colorectal cancer ISO RGD:737099 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 2992 Stmn1 stathmin 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:68960 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 2992 Stmn1 stathmin 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:68960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 2992 Stmn1 stathmin 1 gene DOID:305 carcinoma ISO RGD:68960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2992 Stmn1 stathmin 1 gene DOID:3070 high grade glioma ISO RGD:68960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17440165 2992 Stmn1 stathmin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68960 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2992 Stmn1 stathmin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:68960 D RGD:21408578|PMID:28982915 20200320 RGD 2992 Stmn1 stathmin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2992 Stmn1 stathmin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17455228 2992 Stmn1 stathmin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 2992 Stmn1 stathmin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 2993 Lcat lecithin cholesterol acyltransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 2993 Lcat lecithin cholesterol acyltransferase gene DOID:1168 familial hyperlipidemia IDA D RGD:1581787|PMID:12935429 20061026 RGD 2993 Lcat lecithin cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:1581778|PMID:16061733 20061025 RGD 2993 Lcat lecithin cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:7240710 20130221 OMIM 2993 Lcat lecithin cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease PMID:1516702|PMID:15297675|PMID:1571050|PMID:15994445|PMID:1662503|PMID:1681161|PMID:1737840|PMID:17526537|PMID:1859405|PMID:2052566|PMID:21600519|PMID:21875686|PMID:21901787|PMID:22090275|PMID:22189200|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23236364|PMID:2370048|PMID:24503134|PMID:24507774|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:28870971|PMID:28983876|PMID:29030428|PMID:29083407|PMID:30333156|PMID:31164121|PMID:32041611|PMID:33816482|PMID:6078131|PMID:6624548|PMID:7613477|PMID:8432868|PMID:8620346|PMID:8675648|PMID:8755645|PMID:9261271|PMID:9541390|PMID:9741700 2993 Lcat lecithin cholesterol acyltransferase gene DOID:2349 arteriosclerosis ISO RGD:737383 D RGD:1581779|PMID:12673583 20061026 RGD 2993 Lcat lecithin cholesterol acyltransferase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737383 D RGD:9068941 20200609 RGD PMID:12673583|REF_RGD_ID:1581779 2993 Lcat lecithin cholesterol acyltransferase gene DOID:5844 myocardial infarction IDA D RGD:1581773|PMID:16640830 20061025 RGD 2993 Lcat lecithin cholesterol acyltransferase gene DOID:630 genetic disease ISO RGD:737383 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2993 Lcat lecithin cholesterol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737383 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 2993 Lcat lecithin cholesterol acyltransferase gene DOID:783 end stage renal disease IDA D RGD:1581769|PMID:15280162 20061025 RGD 2993 Lcat lecithin cholesterol acyltransferase gene DOID:9006599 Hypertriglyceridemia ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:14668345|REF_RGD_ID:1581782 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:7240710 20170503 OMIM 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency PMID:16199547|PMID:17576681|PMID:22985903|PMID:25741868|PMID:27087313|PMID:28492532|PMID:9536098 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:11204 allergic conjunctivitis IDA D RGD:1600225|PMID:14507881 20070305 RGD protein:increased phosphorylation:T cell 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:10861 D RGD:2316557|PMID:17711737 20100216 RGD 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease IDA D RGD:1600221|PMID:16828835 20070305 RGD protein:increased tyrosine phosphorylation:T cell 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:627 severe combined immunodeficiency ISO RGD:1344945 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:27748010 2994 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2996 Ldha lactate dehydrogenase A gene DOID:0050700 cardiomyopathy ISO RGD:736025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15231041 2996 Ldha lactate dehydrogenase A gene DOID:0080108 myoglobinuria ISO RGD:736025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21332213 2996 Ldha lactate dehydrogenase A gene DOID:0080600 COVID-19 ISO RGD:736025 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2996 Ldha lactate dehydrogenase A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 2996 Ldha lactate dehydrogenase A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736025 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 2996 Ldha lactate dehydrogenase A gene DOID:1059 intellectual disability ISO RGD:736025 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 2996 Ldha lactate dehydrogenase A gene DOID:1062 Fanconi syndrome ISO RGD:736025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 2996 Ldha lactate dehydrogenase A gene DOID:1793 pancreatic cancer ISO RGD:736025 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 2996 Ldha lactate dehydrogenase A gene DOID:3910 lung adenocarcinoma ISO RGD:736025 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2996 Ldha lactate dehydrogenase A gene DOID:4195 hyperglycemia IEP D RGD:1600277|PMID:12438314 20070306 RGD mRNA:increased expression:beta cell 2996 Ldha lactate dehydrogenase A gene DOID:5844 myocardial infarction ISO RGD:736025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3279722 2996 Ldha lactate dehydrogenase A gene DOID:630 genetic disease ISO RGD:736025 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 2996 Ldha lactate dehydrogenase A gene DOID:9002170 Experimental Neoplasms IMP D RGD:1600281|PMID:11085542 20070306 RGD 2996 Ldha lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:7240710 20130425 OMIM 2996 Ldha lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 2996 Ldha lactate dehydrogenase A gene DOID:9004590 Acute Liver Failure ISO RGD:736025 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 2996 Ldha lactate dehydrogenase A gene DOID:9006205 Animal Disease Models ISO RGD:736025 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 2997 Ldhb lactate dehydrogenase B gene DOID:0060074 ductal carcinoma in situ ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 2997 Ldhb lactate dehydrogenase B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 2997 Ldhb lactate dehydrogenase B gene DOID:4450 renal cell carcinoma ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 2997 Ldhb lactate dehydrogenase B gene DOID:630 genetic disease ISO RGD:735463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 2997 Ldhb lactate dehydrogenase B gene DOID:655 inherited metabolic disorder ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2334429 2997 Ldhb lactate dehydrogenase B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 2997 Ldhb lactate dehydrogenase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 2997 Ldhb lactate dehydrogenase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 2997 Ldhb lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:7240710 20171011 OMIM 2997 Ldhb lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase B deficiency PMID:10509905|PMID:1587525|PMID:2334429|PMID:28492532|PMID:8314553 2997 Ldhb lactate dehydrogenase B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 2997 Ldhb lactate dehydrogenase B gene DOID:9008939 Breast Neoplasms ISO RGD:735463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 2998 Ldlr low density lipoprotein receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 2998 Ldlr low density lipoprotein receptor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 2998 Ldlr low density lipoprotein receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20938947|PMID:23127599|PMID:23285030 2998 Ldlr low density lipoprotein receptor gene DOID:0080600 COVID-19 ISO RGD:735594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 2998 Ldlr low density lipoprotein receptor gene DOID:0080685 aortic dissection ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 2998 Ldlr low density lipoprotein receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 2998 Ldlr low density lipoprotein receptor gene DOID:0111254 glutaric acidemia I ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 2998 Ldlr low density lipoprotein receptor gene DOID:10230 aortic atherosclerosis IMP D RGD:13703129|PMID:29459263 20211108 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:10864 D RGD:5490231|PMID:21755005 20110908 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:5490239|PMID:17239995 20110909 RGD DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) 2998 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:5490242|PMID:15689450 20110909 RGD DNA:SNPs:exon (human) 2998 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:5490244|PMID:15585340 20110909 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) 2998 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:5490241|PMID:16741934 20110909 RGD DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) 2998 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:5490243|PMID:16378661 20110909 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) 2998 Ldlr low density lipoprotein receptor gene DOID:11100 Q fever ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 2998 Ldlr low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia IMP D RGD:13703129|PMID:29459263 20211108 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:25619500 2998 Ldlr low density lipoprotein receptor gene DOID:12783 migraine without aura ISO RGD:735594 D RGD:5490245|PMID:12873747 20110909 RGD DNA:repeat:exon (human) 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:7240710 20130221 OMIM 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22220933|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23815734|PMID:23820649|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24671153|PMID:24722143|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28349240|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29874871|PMID:2988123|PMID:29974534|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32113782|PMID:32143996|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32706999|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33079599|PMID:33087929|PMID:33111339|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:3343347|PMID:33508743|PMID:33740630|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34456200|PMID:3472763|PMID:3475071|PMID:34906454|PMID:34998859|PMID:3549308|PMID:35535697|PMID:3572996|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6324732|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12112655|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30332439|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:3627182|PMID:36325061|PMID:36499307 2998 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:735594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10208499|PMID:12730724|PMID:15701167|PMID:17445538|PMID:17694954|PMID:25741868|PMID:28492532 2998 Ldlr low density lipoprotein receptor gene DOID:1883 hepatitis C disease_progression ISO RGD:735594 D RGD:5490246|PMID:12209363 20110909 RGD DNA:polymorphisms:exon, 3' utr (human) 2998 Ldlr low density lipoprotein receptor gene DOID:1936 atherosclerosis IMP D RGD:12910105|PMID:22293196 20170608 RGD DNA:mutation:exon:478T > A(rat) 2998 Ldlr low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:10864 D RGD:5490255|PMID:9614153 20070711 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:735594 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11947894|PMID:18450471|PMID:22153697|PMID:25619500|PMID:28899902|PMID:34717031|PMID:36108984 2998 Ldlr low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:735594 D RGD:1581826|PMID:12969990 20061026 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:3145 hyperlipoproteinemia type III ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33740630 2998 Ldlr low density lipoprotein receptor gene DOID:3345 xanthomatosis IMP D RGD:12910105|PMID:22293196 20170608 RGD DNA:mutation:exon:478T > A(rat) 2998 Ldlr low density lipoprotein receptor gene DOID:3393 coronary artery disease ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 2998 Ldlr low density lipoprotein receptor gene DOID:3393 coronary artery disease no_association ISO RGD:735594 D RGD:1581823|PMID:16459141 20061026 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:3413 alpha-mannosidosis ISO RGD:735594 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 2998 Ldlr low density lipoprotein receptor gene DOID:5082 liver cirrhosis ISO RGD:735594 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 2998 Ldlr low density lipoprotein receptor gene DOID:557 kidney disease ISO RGD:10864 D RGD:7241070|PMID:21795641 20130226 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:5844 myocardial infarction ISO RGD:735594 D RGD:1331525|PMID:15118671 19990101 GAD 2998 Ldlr low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11005141|PMID:11238294|PMID:11668640|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12436241|PMID:12459547|PMID:1301940|PMID:1301956|PMID:1352322|PMID:15199436|PMID:16205024|PMID:16250003|PMID:16792510|PMID:17094996|PMID:17576681|PMID:19208450|PMID:20236128|PMID:20736250|PMID:2088165|PMID:21310417|PMID:21382890|PMID:21418584|PMID:22698793|PMID:23064986|PMID:2318961|PMID:23680767|PMID:24033266|PMID:24507775|PMID:25487149|PMID:25525159|PMID:25637381|PMID:25682442|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27678436|PMID:27765764|PMID:28492532|PMID:30583242|PMID:31048103|PMID:31345425|PMID:3263645|PMID:34363016|PMID:35047021|PMID:36499307|PMID:4061491|PMID:4061492|PMID:6438436|PMID:9536098|PMID:9664576 2998 Ldlr low density lipoprotein receptor gene DOID:807 carotid artery occlusion ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 2998 Ldlr low density lipoprotein receptor gene DOID:9000528 Coronary Disease ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9430375 2998 Ldlr low density lipoprotein receptor gene DOID:9000528 Coronary Disease ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:10422804|PMID:11810272|PMID:11845603|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:22390909|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:30971288|PMID:32719484|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:9712531 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia IEP D RGD:1581819|PMID:16741953 20061026 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia IEP D RGD:21410185|PMID:20028367 20200325 RGD protein:decreased expression: liver 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910100|PMID:28469073 20170608 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910104|PMID:27378433 20170608 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18450471|PMID:20530721|PMID:22884763|PMID:26875785 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:10090473|PMID:10090484|PMID:10208479|PMID:10230472|PMID:10422803|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735632|PMID:10882754|PMID:11005141|PMID:11139254|PMID:11196104|PMID:11317361|PMID:11435110|PMID:11462246|PMID:11600564|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12124988|PMID:12406975|PMID:12436241|PMID:12492446|PMID:12553167|PMID:12730724|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14209286|PMID:14508510|PMID:1453433|PMID:14974088|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15890894|PMID:16159606|PMID:16199547|PMID:16250003|PMID:16314194|PMID:16389549|PMID:16424354|PMID:16542394|PMID:16627557|PMID:16792510|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17539906|PMID:17761685|PMID:17765246|PMID:18096825|PMID:18206115|PMID:18263977|PMID:18325082|PMID:18400033|PMID:18503695|PMID:18718593|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:1959928|PMID:19602640|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20018285|PMID:20091938|PMID:20145306|PMID:20236128|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:2088165|PMID:20981092|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21531209|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22487947|PMID:22683370|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:23054246|PMID:23064986|PMID:23130880|PMID:2318961|PMID:23375686|PMID:23669246|PMID:23680767|PMID:23820649|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24373485|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25333069|PMID:25378237|PMID:25395200|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25741862|PMID:25741868|PMID:25741872|PMID:25781017|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26332594|PMID:26342331|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26723464|PMID:26748104|PMID:26802169|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27206941|PMID:27247956|PMID:27497240|PMID:27578104|PMID:27578128|PMID:27596133|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27878139|PMID:27998977|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28220743|PMID:28391882|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28965616|PMID:29083407|PMID:29172679|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29502162|PMID:29874871|PMID:29937437|PMID:30019023|PMID:30179711|PMID:3025214|PMID:30270083|PMID:30270091|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30413722|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30777337|PMID:30795984|PMID:30971288|PMID:31048103|PMID:31106297|PMID:31213876|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:32015373|PMID:32041611|PMID:32163632|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32719484|PMID:32770674|PMID:32878475|PMID:32892247|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:33854068|PMID:33955087|PMID:33975813|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34426522|PMID:34511120|PMID:3475071 2998 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:34906454|PMID:34906840|PMID:35460704|PMID:35535697|PMID:36226792|PMID:3815525|PMID:4061491|PMID:4061492|PMID:4083361|PMID:6438436|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7718019|PMID:7749829|PMID:7820934|PMID:7833932|PMID:7979249|PMID:8295321|PMID:8535447|PMID:8829662|PMID:8911609|PMID:9026534|PMID:9104431|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9409298|PMID:9544745|PMID:9544746|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9698020|PMID:9763532|PMID:9767373|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9002221 Hyperplasia ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207284 2998 Ldlr low density lipoprotein receptor gene DOID:9003370 Dyslipidemias IMP D RGD:12910104|PMID:27378433 20201210 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9003370 Dyslipidemias ISO RGD:735594 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:20530721|PMID:36108984 2998 Ldlr low density lipoprotein receptor gene DOID:9003370 Dyslipidemias ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 2998 Ldlr low density lipoprotein receptor gene DOID:9004009 Reperfusion Injury IEP D RGD:2324630|PMID:17288738 20100506 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10864 D RGD:5490254|PMID:18316222 20110909 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:9430375|PMID:10952765|PMID:11600564|PMID:12009418|PMID:12477733|PMID:12522687|PMID:12673584 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:1331525|PMID:15118671 19990101 GAD 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:1581824|PMID:16796766 20061026 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:5490248|PMID:1867200 19990101 RGD DNA:deletion: :p.G197del (human) 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208489|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11462246|PMID:11491306|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12553167|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1319734|PMID:1352322|PMID:14209286|PMID:14508510|PMID:14512370|PMID:1453433|PMID:1463746|PMID:1464748|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15864114|PMID:15936313|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16796766|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24281370|PMID:24373485|PMID:24507775|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:2569482|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26238499|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27542166|PMID:27578127|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27854218|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29353225|PMID:29407885|PMID:29531935|PMID:29874871|PMID:30112042|PMID:3020025|PMID:30241732|PMID:3025214 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30270055|PMID:30270076|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 2998 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35929461|PMID:36226792|PMID:36325061|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 2998 Ldlr low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2324626|PMID:18054320 20100506 RGD mRNA:decreased expression:liver 2998 Ldlr low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910100|PMID:28469073 20170608 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910104|PMID:27378433 20170608 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:21410185|PMID:20028367 20200325 RGD protein:decreased expression: liver (rat) 2998 Ldlr low density lipoprotein receptor gene DOID:9007096 Stroke ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stroke PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 2998 Ldlr low density lipoprotein receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735594 D RGD:5490232|PMID:19589204 20110908 RGD DNA:SNPs:introns: (rs2738446, rs2738450) (human) 2998 Ldlr low density lipoprotein receptor gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 2998 Ldlr low density lipoprotein receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735594 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 2998 Ldlr low density lipoprotein receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:735594 D RGD:5490253|PMID:19811272 20070424 RGD mRNA:decreased expression:leukocyte 2998 Ldlr low density lipoprotein receptor gene DOID:9348 carotid artery dissection ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:8882879|PMID:9157944|PMID:9484998 2998 Ldlr low density lipoprotein receptor gene DOID:9452 fatty liver disease IMP D RGD:13703129|PMID:29459263 20211108 RGD 2998 Ldlr low density lipoprotein receptor gene DOID:9452 fatty liver disease ISO RGD:735594 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:25554529|PMID:36108984 2998 Ldlr low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:735594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25554529 2998 Ldlr low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:735594 D RGD:1331525|PMID:15118671 19990101 GAD 3000 Lep leptin gene DOID:0050741 alcohol dependence IDA D RGD:21201248|PMID:29912265 20200228 RGD DNA:hypermethylation:promoter 3000 Lep leptin gene DOID:0050741 alcohol dependence IEP D RGD:21201248|PMID:29912265 20200228 RGD protein:decreased expression:serum 3000 Lep leptin gene DOID:0050848 obstructive sleep apnea ISO RGD:69123 D RGD:5128817|PMID:18606530 20110318 RGD protein:increased expression:plasma 3000 Lep leptin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69123 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 3000 Lep leptin gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:69124 D RGD:13592920 20180518 MouseDO 3000 Lep leptin gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:25330346|PMID:20476641 20200408 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) 3000 Lep leptin gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:25330349|PMID:30052309 20200408 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) 3000 Lep leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 3000 Lep leptin gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69123 D RGD:2311137|PMID:18713300 20090626 RGD associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma 3000 Lep leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:7240710 20140911 OMIM 3000 Lep leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency PMID:12393845|PMID:15070752|PMID:15472169|PMID:15937081|PMID:20140086|PMID:25551525|PMID:25741868|PMID:28209183|PMID:28377240|PMID:28492532|PMID:9202122|PMID:9500540|PMID:9745435 3000 Lep leptin gene DOID:10591 pre-eclampsia IEP D RGD:5128718|PMID:16021089 20110315 RGD protein:decreased expression:plasma 3000 Lep leptin gene DOID:10603 glucose intolerance IMP D RGD:12904911|PMID:22948215 20170526 RGD 3000 Lep leptin gene DOID:10603 glucose intolerance ISO RGD:69123 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:21315688|PMID:24150608 3000 Lep leptin gene DOID:10605 short bowel syndrome IDA D RGD:5128624|PMID:19730157 20110314 RGD 3000 Lep leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:10053632|PMID:9755363 20150716 RGD compared to cortisol;protein:altered expression:plasma (human) 3000 Lep leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20157255 3000 Lep leptin gene DOID:10652 Alzheimer's disease treatment IDA D RGD:10053617|PMID:25296496 20150715 RGD associated with Obesity 3000 Lep leptin gene DOID:10763 hypertension IDA D RGD:5128597|PMID:20059648 20110310 RGD 3000 Lep leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12050272|PMID:16827954|PMID:25205467|PMID:27226618 3000 Lep leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:5128788|PMID:19204185 20110316 RGD DNA:SNPs: : 3000 Lep leptin gene DOID:10808 gastric ulcer ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10422768|PMID:11025360|PMID:11787760|PMID:15024038|PMID:16015682|PMID:18181030 3000 Lep leptin gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:69123 D RGD:5128773|PMID:21317313 20140805 RGD respiratory system fluid/secretion 3000 Lep leptin gene DOID:11476 osteoporosis IEP D RGD:10053572|PMID:24250662 20150714 RGD protein:increased expression:serum (rat) 3000 Lep leptin gene DOID:11476 osteoporosis ISO RGD:69123 D RGD:5128771|PMID:21376149 20110316 RGD associated with chronic obstructive pulmonary disease; protein:decreased expression:serum 3000 Lep leptin gene DOID:11476 osteoporosis treatment IDA D RGD:10053615|PMID:12609558 20150715 RGD 3000 Lep leptin gene DOID:11476 osteoporosis treatment ISO RGD:69123 D RGD:10053630|PMID:11459801 20150716 RGD human protein in a rat model 3000 Lep leptin gene DOID:11612 polycystic ovary syndrome ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 3000 Lep leptin gene DOID:1168 familial hyperlipidemia IEP D RGD:10053616|PMID:17671736 20150715 RGD mRNA:decreased expression:liver, adipose tissue (rat) 3000 Lep leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 3000 Lep leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:2311131|PMID:19269197 20090626 RGD protein:increased expression:serum 3000 Lep leptin gene DOID:11981 morbid obesity ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9500540|PMID:15070752 3000 Lep leptin gene DOID:12236 primary biliary cholangitis ISO RGD:69123 D RGD:10411894|PMID:16093869 20151110 RGD protein:decreased expression:serum: 3000 Lep leptin gene DOID:12849 autistic disorder ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17347881 3000 Lep leptin gene DOID:12858 Huntington's disease IEP D RGD:5128676|PMID:19573560 20110315 RGD protein:decreased expression:serum 3000 Lep leptin gene DOID:14018 alcoholic liver cirrhosis IDA D RGD:21201248|PMID:29912265 20200228 RGD DNA:hypomethylation:promoter (human) 3000 Lep leptin gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISS RGD:69124 D RGD:13592920 20180518 MouseDO OMIM:605552 3000 Lep leptin gene DOID:14330 Parkinson's disease treatment IDA D RGD:10053631|PMID:17895242 20150716 RGD rat protein in a mouse model 3000 Lep leptin gene DOID:1485 cystic fibrosis severity ISO RGD:69123 D RGD:5128819|PMID:18353734 20110318 RGD 3000 Lep leptin gene DOID:1612 breast cancer ISO RGD:69123 D RGD:8694425|PMID:16019138 20140805 RGD protein:increased expression:serum 3000 Lep leptin gene DOID:1924 hypogonadism ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9500540|PMID:15070752 3000 Lep leptin gene DOID:1924 hypogonadism treatment IDA D RGD:10053622|PMID:21790658 20150716 RGD 3000 Lep leptin gene DOID:2018 hyperinsulinism IMP D RGD:12904911|PMID:22948215 20170526 RGD 3000 Lep leptin gene DOID:2018 hyperinsulinism ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9826672 3000 Lep leptin gene DOID:2048 autoimmune hepatitis ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 3000 Lep leptin gene DOID:2841 asthma ISO RGD:69123 D RGD:5128781|PMID:19705789 20110316 RGD protein:increased expression:plasma 3000 Lep leptin gene DOID:2913 acute pancreatitis IEP D RGD:11552763|PMID:26634430 20190702 RGD associated with fatty liver disease; protein:increased expression:serum: 3000 Lep leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:5128772|PMID:21367591 20110316 RGD protein:increased expression:plasma 3000 Lep leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:5128778|PMID:20021311 20110316 RGD protein:decreased expression:serum 3000 Lep leptin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:69123 D RGD:5128777|PMID:20854423 20110316 RGD DNA:polymorphism:promoter: -2548 G>A (human) 3000 Lep leptin gene DOID:3146 lipid metabolism disorder IEP D RGD:25330351|PMID:30550969 20200408 RGD protein:increased expression:adipose tissue (rat) 3000 Lep leptin gene DOID:3908 lung non-small cell carcinoma ISO RGD:69123 D RGD:5128815|PMID:19033693 20110318 RGD protein:increased expression:serum 3000 Lep leptin gene DOID:4195 hyperglycemia ISO RGD:69123 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:21561152|PMID:31313498|PMID:31483951 3000 Lep leptin gene DOID:4450 renal cell carcinoma resistance ISO RGD:69123 D RGD:6907119|PMID:19278051 20121029 RGD 3000 Lep leptin gene DOID:4483 rhinitis ISO RGD:69123 D RGD:5128850|PMID:19860581 20110321 RGD 3000 Lep leptin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69123 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3000 Lep leptin gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:69123 D RGD:14696785|PMID:20723213 20190725 RGD mRNA:increased expression:liver: 3000 Lep leptin gene DOID:576 proteinuria ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25205467 3000 Lep leptin gene DOID:6000 congestive heart failure ISO RGD:69124 D RGD:5128823|PMID:18006469 20110318 RGD 3000 Lep leptin gene DOID:630 genetic disease ISO RGD:69123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3000 Lep leptin gene DOID:684 hepatocellular carcinoma severity IEP D RGD:25330348|PMID:18573568 20200408 RGD protein:increased expression:liver (human) 3000 Lep leptin gene DOID:684 hepatocellular carcinoma susceptibility IAGP D RGD:15039399|PMID:28452232 20200228 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) 3000 Lep leptin gene DOID:783 end stage renal disease ISO RGD:69123 D RGD:10053636|PMID:9294834 20150716 RGD protein:increased expression:serum (human) 3000 Lep leptin gene DOID:8398 osteoarthritis severity ISO RGD:69123 D RGD:10053634|PMID:14613274 20150716 RGD protein:increased expression:tibia, cartilage, chondrocyte (human) 3000 Lep leptin gene DOID:850 lung disease ISO RGD:69124 D RGD:5128844|PMID:17589942 20110321 RGD acute lung injury associated pancreatitis 3000 Lep leptin gene DOID:874 bacterial pneumonia ISO RGD:69124 D RGD:5128871|PMID:11937559 20110322 RGD 3000 Lep leptin gene DOID:8778 Crohn's disease ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 3000 Lep leptin gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5128780|PMID:19777863 20110316 RGD 3000 Lep leptin gene DOID:9000808 Hypercholesterolemia IMP D RGD:12904911|PMID:22948215 20170526 RGD 3000 Lep leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 3000 Lep leptin gene DOID:9000998 Brain Injuries IEP D RGD:5128517|PMID:21276361 20110307 RGD 3000 Lep leptin gene DOID:9001044 Choroidal Neovascularization IEP D RGD:10053625|PMID:25380250 20150716 RGD associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) 3000 Lep leptin gene DOID:9001443 Hypercapnia ISO RGD:69123 D RGD:5128875|PMID:11809994 20110322 RGD associated with obesity 3000 Lep leptin gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:5128589|PMID:20509998 20110310 RGD 3000 Lep leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69123 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:12586293|PMID:16097051|PMID:29248466 3000 Lep leptin gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:69124 D RGD:5128713|PMID:19065677 20110315 RGD 3000 Lep leptin gene DOID:9001981 Weight Loss ISO RGD:69123 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27417254 3000 Lep leptin gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:69124 D RGD:5128869|PMID:17822444 20110322 RGD 3000 Lep leptin gene DOID:9002165 Diabetic Nephropathies ISO RGD:69124 D RGD:6907074|PMID:22773754 20121026 RGD 3000 Lep leptin gene DOID:9002221 Hyperplasia ISO RGD:69123 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27712037 3000 Lep leptin gene DOID:9002231 Fetal Growth Retardation IDA D RGD:5128507|PMID:21353474 20110307 RGD 3000 Lep leptin gene DOID:9002304 Prostatic Neoplasms ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15042602 3000 Lep leptin gene DOID:9002331 Knee Osteoarthritis ISO RGD:69123 D RGD:10411887|PMID:23575542 20151110 RGD protein:decreased expression:serum: 3000 Lep leptin gene DOID:9002457 Experimental Arthritis ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15142272 3000 Lep leptin gene DOID:9002554 Tachycardia ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16827954 3000 Lep leptin gene DOID:9002916 Hyperphagia ISO RGD:69123 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12177191|PMID:25086370|PMID:26186301|PMID:27071101 3000 Lep leptin gene DOID:9002928 Colonic Neoplasms ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17354198 3000 Lep leptin gene DOID:9002955 Nerve Degeneration ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17993459 3000 Lep leptin gene DOID:9003287 Body Weight Changes IMP D RGD:5128513|PMID:21328617 20110307 RGD 3000 Lep leptin gene DOID:9003370 Dyslipidemias IEP D RGD:21410183|PMID:29089335 20200325 RGD protein:altered expression: serum (rat) 3000 Lep leptin gene DOID:9003671 Hypoventilation ISO RGD:69123 D RGD:5128870|PMID:16179823 20110322 RGD Obesity Hypoventilation Syndrome 3000 Lep leptin gene DOID:9004009 Reperfusion Injury IDA D RGD:5128549|PMID:21086559 20110308 RGD 3000 Lep leptin gene DOID:9004017 Chronic Hepatitis C IEP D RGD:21201249|PMID:11336170 20200228 RGD protein:altered localization:serum (human) 3000 Lep leptin gene DOID:9004484 Sepsis IEP D RGD:5128818|PMID:18575315 20110318 RGD 3000 Lep leptin gene DOID:9004657 Weight Gain ISO RGD:69123 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:15809509|PMID:17502770|PMID:19716478|PMID:21561152|PMID:23839791|PMID:25086370|PMID:27472835|PMID:29967158 3000 Lep leptin gene DOID:9005005 Oral Ulcer ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16391412 3000 Lep leptin gene DOID:9005233 Experimental Mammary Neoplasms treatment IEP D RGD:8694468|PMID:22246620 20140805 RGD 3000 Lep leptin gene DOID:9005274 Polyuria ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 3000 Lep leptin gene DOID:9005369 Hepatomegaly ISO RGD:69123 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:27071101 3000 Lep leptin gene DOID:9005372 Inflammation ISO RGD:69123 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14599722|PMID:27712037 3000 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2311124|PMID:19491210 20090626 RGD 3000 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69123 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:28242381|PMID:31313498|PMID:31483951 3000 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69124 D RGD:2311126|PMID:19428774 20090626 RGD 3000 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus onset IDA D RGD:5128579|PMID:20695765 20110309 RGD 3000 Lep leptin gene DOID:9006223 Kidney Reperfusion Injury resistance IDA D RGD:6909133|PMID:22969992 20121108 RGD 3000 Lep leptin gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12904911|PMID:22948215 20170526 RGD 3000 Lep leptin gene DOID:9006646 Metabolic Syndrome IEP D RGD:10053625|PMID:25380250 20150716 RGD protein:increased expression:plasma (rat) 3000 Lep leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:18515891 3000 Lep leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:2311125|PMID:19462476 20090626 RGD 3000 Lep leptin gene DOID:9006727 Polydipsia ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 3000 Lep leptin gene DOID:9007456 Female Infertility ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 3000 Lep leptin gene DOID:9007692 Insulin Resistance IEP D RGD:5128697|PMID:19296906 20110315 RGD protein:increased expression:plasma 3000 Lep leptin gene DOID:9007692 Insulin Resistance IMP D RGD:8549777|PMID:23800849 20170317 RGD DNA:nonsense mutation:cds: 3000 Lep leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10753628|PMID:11342529|PMID:24150608 3000 Lep leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:2311127|PMID:19419916 20090626 RGD associated with Obesity 3000 Lep leptin gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5128547|PMID:21122204 20110308 RGD 3000 Lep leptin gene DOID:9007996 End Stage Liver Disease IEP D RGD:25330350|PMID:9640405 20200408 RGD protein:decreased expression:serum (human) 3000 Lep leptin gene DOID:9008763 Femoral Fractures IEP D RGD:5128517|PMID:21276361 20110307 RGD 3000 Lep leptin gene DOID:9008939 Breast Neoplasms ISO RGD:69123 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:21353530|PMID:35191604 3000 Lep leptin gene DOID:9351 diabetes mellitus ISO RGD:69123 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 3000 Lep leptin gene DOID:9352 type 2 diabetes mellitus IMP D RGD:2311130|PMID:19289493 20090626 RGD 3000 Lep leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15070752 3000 Lep leptin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69123 D RGD:2311139|PMID:18564365 20200806 RGD DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) 3000 Lep leptin gene DOID:9452 fatty liver disease ISO RGD:69123 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:12661780|PMID:19716478|PMID:23839791|PMID:24525044|PMID:25554529|PMID:27071101|PMID:27712037 3000 Lep leptin gene DOID:9452 fatty liver disease severity IEP D RGD:21201250|PMID:28281237 20200228 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) 3000 Lep leptin gene DOID:9970 obesity IEP D RGD:5128551|PMID:21075806 20110308 RGD protein:increased expression:serum 3000 Lep leptin gene DOID:9970 obesity IMP D RGD:12904911|PMID:22948215 20170526 RGD 3000 Lep leptin gene DOID:9970 obesity IMP D RGD:5128629|PMID:19726711 20110314 RGD 3000 Lep leptin gene DOID:9970 obesity IMP D RGD:8549777|PMID:23800849 20170317 RGD DNA:nonsense mutation:cds: 3000 Lep leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9202122|PMID:9502777|PMID:9826672|PMID:17517446|PMID:18515891|PMID:19913045|PMID:20122948|PMID:23839791|PMID:24042701|PMID:25086370|PMID:25551525|PMID:25554529|PMID:26186301|PMID:27071101|PMID:28698385|PMID:31313498 3000 Lep leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:1331525|PMID:15118671 19990101 GAD 3000 Lep leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:2311132|PMID:19267279 20090626 RGD protein:increased expression:serum 3000 Lep leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:25741868|PMID:28492532 3000 Lep leptin gene DOID:9970 obesity ISO RGD:69124 D RGD:2311134|PMID:7624776 20090626 RGD 3000 Lep leptin gene DOID:9970 obesity no_association ISO RGD:69123 D RGD:1643130|PMID:15910756 20071203 RGD 3000 Lep leptin gene DOID:9970 obesity treatment IDA D RGD:10053638|PMID:23793169 20150716 RGD 3000 Lep leptin gene DOID:9970 obesity treatment ISO RGD:69124 D RGD:10053612|PMID:10029567 20150715 RGD mouse protein in a rat model 3000 Lep leptin gene DOID:9976 heroin dependence ISO RGD:69123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 3001 Lepr leptin receptor gene DOID:0050700 cardiomyopathy ISO RGD:735832 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33345901 3001 Lepr leptin receptor gene DOID:0050847 sleep apnea ISO RGD:735832 D RGD:5128873|PMID:11896492 20110322 RGD 3001 Lepr leptin receptor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:735832 D RGD:5128855|PMID:18204169 20110321 RGD DNA:polymorphism:exon:p.Q223R (human) 3001 Lepr leptin receptor gene DOID:0050855 renal fibrosis disease_progression IMP D RGD:12911217|PMID:27465994 20200706 RGD 3001 Lepr leptin receptor gene DOID:0080001 bone disease ISO RGD:735832 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:28130181 3001 Lepr leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735832 D RGD:14696694|PMID:22215535 20190715 RGD DNA:intron:c.2673+1118C>T (rs6700896) (human) 3001 Lepr leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease ISS RGD:10865 D RGD:13592920 20190905 MouseDO OMIM:613282 | OMIM:613387 3001 Lepr leptin receptor gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:735832 D RGD:21079462|PMID:27257426 20200218 RGD DNA:SNP:cds:p.Q223R(human) 3001 Lepr leptin receptor gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:735832 D RGD:14696696|PMID:23278404 20200218 RGD DNA:SNPs: :rs1137100,rs1137101(human) 3001 Lepr leptin receptor gene DOID:1059 intellectual disability ISO RGD:735832 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 3001 Lepr leptin receptor gene DOID:10591 pre-eclampsia IEP D RGD:5128718|PMID:16021089 20110315 RGD protein:increased expression:placenta 3001 Lepr leptin receptor gene DOID:10603 glucose intolerance IMP D RGD:12911216|PMID:26537785 20200218 RGD 3001 Lepr leptin receptor gene DOID:10603 glucose intolerance IMP D RGD:12911217|PMID:27465994 20170707 RGD 3001 Lepr leptin receptor gene DOID:10603 glucose intolerance ISO RGD:735832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:25367288|PMID:28611668|PMID:29988851 3001 Lepr leptin receptor gene DOID:10605 short bowel syndrome IEP D RGD:5128624|PMID:19730157 20151111 RGD mRNA:increased expression:small intestine 3001 Lepr leptin receptor gene DOID:1074 kidney failure ISO RGD:735832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 3001 Lepr leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 3001 Lepr leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:5129161|PMID:10999797 20110325 RGD DNA:polymorphisms:exons 3001 Lepr leptin receptor gene DOID:10763 hypertension disease_progression IMP D RGD:12911217|PMID:27465994 20201210 RGD 3001 Lepr leptin receptor gene DOID:10952 nephritis ISO RGD:735832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 3001 Lepr leptin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:735832 D RGD:10411886|PMID:23460508 20151110 RGD DNA:polymorphisms:cds:p.K109R,Q223R(human) 3001 Lepr leptin receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735832 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:25222487|PMID:33345901 3001 Lepr leptin receptor gene DOID:11714 gestational diabetes ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 3001 Lepr leptin receptor gene DOID:11981 morbid obesity ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 3001 Lepr leptin receptor gene DOID:12236 primary biliary cholangitis ISO RGD:735832 D RGD:10411894|PMID:16093869 20151110 RGD protein:increased expression:serum: 3001 Lepr leptin receptor gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735832 D RGD:2311129|PMID:19337797 20090626 RGD DNA:polymorphism: :p.Q223R (human) 3001 Lepr leptin receptor gene DOID:1924 hypogonadism ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 3001 Lepr leptin receptor gene DOID:2018 hyperinsulinism IMP D RGD:12911216|PMID:26537785 20200218 RGD 3001 Lepr leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:735832 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:3519326|PMID:15093691|PMID:22949526|PMID:24384915|PMID:25222487|PMID:29988851|PMID:30689673|PMID:33345901 3001 Lepr leptin receptor gene DOID:2349 arteriosclerosis ISO RGD:735832 D RGD:1581846|PMID:11460888 20061027 RGD 3001 Lepr leptin receptor gene DOID:26 pancreas disease ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3519326 3001 Lepr leptin receptor gene DOID:2999 granulosa cell tumor ISO RGD:735832 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28861689 3001 Lepr leptin receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735832 D RGD:5128813|PMID:19196818 20110318 RGD protein:decreased expression:lung 3001 Lepr leptin receptor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:735832 D RGD:5128813|PMID:19196818 20110318 RGD DNA:SNPs: : 3001 Lepr leptin receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:735832 D RGD:21079462|PMID:27257426 20200218 RGD DNA:SNP:cds:p.Q223R(human) 3001 Lepr leptin receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10865 D RGD:5128773|PMID:21317313 20110316 RGD associated with Diabetes Mellitus, Type 2 3001 Lepr leptin receptor gene DOID:4195 hyperglycemia IMP D RGD:12911216|PMID:26537785 20200218 RGD 3001 Lepr leptin receptor gene DOID:4195 hyperglycemia ISO RGD:735832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:3519326|PMID:15093691|PMID:17065336|PMID:19682441|PMID:20567778|PMID:24384915|PMID:28130181|PMID:29143802|PMID:29743445|PMID:29988851|PMID:29991592|PMID:30635400|PMID:33345901|PMID:35235096 3001 Lepr leptin receptor gene DOID:4989 pancreatitis IAGP D RGD:10412020|PMID:21836382 20151111 RGD DNA:missense mutation:CDS:p.Q269P (rat) 3001 Lepr leptin receptor gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:735832 D RGD:14696785|PMID:20723213 20190725 RGD mRNA:increased expression:liver: 3001 Lepr leptin receptor gene DOID:5223 infertility ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15093691 3001 Lepr leptin receptor gene DOID:5223 infertility treatment ISO RGD:10865 D RGD:10412018|PMID:16284652 20151111 RGD 3001 Lepr leptin receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735832 D RGD:21079471|PMID:12100031 20200218 RGD protein:increased phosphorylation:peripheral blood mononuclear cell 3001 Lepr leptin receptor gene DOID:53 pituitary gland disease ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 3001 Lepr leptin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:735832 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 3001 Lepr leptin receptor gene DOID:557 kidney disease ISO RGD:735832 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:33345901 3001 Lepr leptin receptor gene DOID:576 proteinuria IMP D RGD:12911217|PMID:27465994 20201210 RGD compared to SS/JrHsdMcwi 3001 Lepr leptin receptor gene DOID:576 proteinuria sexual_dimorphism IAGP D RGD:7365117|PMID:20159938 20201210 RGD compared to BN 3001 Lepr leptin receptor gene DOID:6000 congestive heart failure ISO RGD:10865 D RGD:5128823|PMID:18006469 20110318 RGD protein:increased phosphorylation:heart 3001 Lepr leptin receptor gene DOID:612 primary immunodeficiency disease ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 3001 Lepr leptin receptor gene DOID:630 genetic disease ISO RGD:735832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 3001 Lepr leptin receptor gene DOID:6432 pulmonary hypertension ISO RGD:735832 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 3001 Lepr leptin receptor gene DOID:655 inherited metabolic disorder ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 3001 Lepr leptin receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735832 D RGD:21079466|PMID:23090836 20200218 RGD associated with Hepatitis B, Chronic;DNA:SNPs:cds:p.Gln223Arg, Lys109Arg (human) 3001 Lepr leptin receptor gene DOID:784 chronic kidney disease IMP D RGD:12911217|PMID:27465994 20201210 RGD 3001 Lepr leptin receptor gene DOID:784 chronic kidney disease IMP D RGD:34888223|PMID:32390513 20201210 RGD 3001 Lepr leptin receptor gene DOID:9000784 Fibrosis ISO RGD:735832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 3001 Lepr leptin receptor gene DOID:9001239 Delayed Puberty ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 3001 Lepr leptin receptor gene DOID:9001472 Nasal Polyps ISO RGD:735832 D RGD:5129163|PMID:20422702 20110325 RGD mRNA:increased expression:nose 3001 Lepr leptin receptor gene DOID:9001542 Albuminuria ISO RGD:735832 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:17065336|PMID:20175764|PMID:23159718|PMID:28130181|PMID:29988851 3001 Lepr leptin receptor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:10412036|PMID:23886859 20151112 RGD protein:increased expression:serum 3001 Lepr leptin receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:735832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 3001 Lepr leptin receptor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10865 D RGD:5128846|PMID:21148797 20110321 RGD 3001 Lepr leptin receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:735832 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:28130181|PMID:29988851 3001 Lepr leptin receptor gene DOID:9002211 Hyperalgesia ISO RGD:735832 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:29143802 3001 Lepr leptin receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735832 D RGD:10411887|PMID:23575542 20151110 RGD protein:increased expression:serum: 3001 Lepr leptin receptor gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:735832 D RGD:10411887|PMID:23575542 20151110 RGD DNA:SNP:cds:668A>G(human) 3001 Lepr leptin receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:735832 D RGD:10411889|PMID:17243864 20151110 RGD DNA:SNP:cds:p.Q223R(human) 3001 Lepr leptin receptor gene DOID:9002569 Overweight ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23038009 3001 Lepr leptin receptor gene DOID:9002916 Hyperphagia IAGP D RGD:628910|PMID:9843879 20201210 RGD compared to age-matched lean +/fa rats 3001 Lepr leptin receptor gene DOID:9002916 Hyperphagia IMP D RGD:12911216|PMID:26537785 20200218 RGD 3001 Lepr leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3519326|PMID:15093691|PMID:17229951 3001 Lepr leptin receptor gene DOID:9003370 Dyslipidemias IMP D RGD:12911216|PMID:26537785 20200218 RGD 3001 Lepr leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:735832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 3001 Lepr leptin receptor gene DOID:9004017 Chronic Hepatitis C ISO RGD:735832 D RGD:21079470|PMID:17060687 20200218 RGD mRNA:altered exression:PBMC,liver 3001 Lepr leptin receptor gene DOID:9004272 Varicose Ulcer ISO RGD:735832 D RGD:10412021|PMID:22773832 20151111 RGD mRNA:decreased expression:skin 3001 Lepr leptin receptor gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:5129122|PMID:18469142 20110324 RGD 3001 Lepr leptin receptor gene DOID:9004657 Weight Gain ISO RGD:735832 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:15809509|PMID:29143802|PMID:29988851 3001 Lepr leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:7240710 20140911 OMIM 3001 Lepr leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:12646666|PMID:15585384|PMID:16284652|PMID:17229951|PMID:17785359|PMID:18212354|PMID:18490929|PMID:18703626|PMID:21393862|PMID:21744741|PMID:22331430|PMID:22810975|PMID:24611737|PMID:25741868|PMID:26094658|PMID:26467025|PMID:28492532|PMID:29970488|PMID:31237021|PMID:8666155|PMID:9144432|PMID:9537324|PMID:9860295 3001 Lepr leptin receptor gene DOID:9005369 Hepatomegaly ISO RGD:735832 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:23038009|PMID:29743445 3001 Lepr leptin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:16427799|PMID:17065336|PMID:19452630|PMID:19478208|PMID:20567778|PMID:22933112|PMID:24263156|PMID:26939912|PMID:27151219|PMID:30635400|PMID:35472412 3001 Lepr leptin receptor gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:735832 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 3001 Lepr leptin receptor gene DOID:9006205 Animal Disease Models ISO RGD:735832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 3001 Lepr leptin receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 3001 Lepr leptin receptor gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735832 D RGD:2311129|PMID:19337797 20090626 RGD DNA:polymorphism: :p.Q223R (human) 3001 Lepr leptin receptor gene DOID:9007284 Precocious Puberty ISO RGD:735832 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 3001 Lepr leptin receptor gene DOID:9007402 Gliosis ISO RGD:735832 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29191728 3001 Lepr leptin receptor gene DOID:9007456 Female Infertility ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 3001 Lepr leptin receptor gene DOID:9007692 Insulin Resistance IAGP D RGD:13432147|PMID:23154293 20170921 RGD 3001 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:20567778|PMID:25367288|PMID:28611668|PMID:29988851|PMID:30689673 3001 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:2311138|PMID:18632178 20090626 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human) 3001 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:2311142|PMID:18413223 20090626 RGD associated with Obesity;DNA:polymorphism: :p.K656N (human) 3001 Lepr leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1626628|PMID:17134725 20151112 RGD mRNA:altered expression:heart 3001 Lepr leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5129123|PMID:15284063 20110324 RGD mRNA:decreased expression:heart 3001 Lepr leptin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:735832 D RGD:21079470|PMID:17060687 20200218 RGD mRNA:altered exression:PBMC,liver 3001 Lepr leptin receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 3001 Lepr leptin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21353530 3001 Lepr leptin receptor gene DOID:9351 diabetes mellitus ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15028607 3001 Lepr leptin receptor gene DOID:9351 diabetes mellitus ISO RGD:735832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 3001 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus IAGP D RGD:13432147|PMID:23154293 20170921 RGD 3001 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20175764|PMID:22933112|PMID:24263156|PMID:26939912 3001 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:14696694|PMID:22215535 20190715 RGD associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) 3001 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:2311141|PMID:18439701 20090626 RGD DNA:polymorphisms (human) 3001 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735832 D RGD:2311144|PMID:17065694 20090626 RGD DNA:insertion:3' utr (human) 3001 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10865 D RGD:10412018|PMID:16284652 20151111 RGD 3001 Lepr leptin receptor gene DOID:9452 fatty liver disease ISO RGD:735832 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:25367288|PMID:29743445 3001 Lepr leptin receptor gene DOID:9743 diabetic neuropathy ISO RGD:735832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24263156 3001 Lepr leptin receptor gene DOID:9970 obesity IAGP D RGD:1600612|PMID:8841178 20070320 RGD 3001 Lepr leptin receptor gene DOID:9970 obesity IAGP D RGD:628581|PMID:11500530 20201210 RGD compared to heterozygous controls +/fa 3001 Lepr leptin receptor gene DOID:9970 obesity IAGP D RGD:628910|PMID:9843879 20201210 RGD compared to age-matched lean +/fa rats 3001 Lepr leptin receptor gene DOID:9970 obesity IAGP D RGD:729297|PMID:8702432 20090626 RGD DNA:missense mutation:CDS:p.Q269P (rat) 3001 Lepr leptin receptor gene DOID:9970 obesity IMP D RGD:10412038|PMID:22693203 20151112 RGD 3001 Lepr leptin receptor gene DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20201210 RGD 3001 Lepr leptin receptor gene DOID:9970 obesity IMP D RGD:12911217|PMID:27465994 20170707 RGD 3001 Lepr leptin receptor gene DOID:9970 obesity ISO RGD:10865 D RGD:10411891|PMID:24785100 20151110 RGD protein:increased expression:hippocampus,astrocyte: 3001 Lepr leptin receptor gene DOID:9970 obesity ISO RGD:10865 D RGD:5129154|PMID:20592105 20110325 RGD mRNA:decreased expression:lung 3001 Lepr leptin receptor gene DOID:9970 obesity ISO RGD:735832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:3519326|PMID:17065336|PMID:17229951|PMID:19913045|PMID:20567778|PMID:22276206|PMID:23563609|PMID:24263156|PMID:25222487|PMID:29743445|PMID:30689673|PMID:30993381|PMID:35235096|PMID:35472412 3001 Lepr leptin receptor gene DOID:9970 obesity ISO RGD:735832 D RGD:1331525|PMID:15118671 19990101 GAD 3001 Lepr leptin receptor gene DOID:9970 obesity ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:17785359|PMID:18490929|PMID:21393862|PMID:21744741|PMID:22331430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8666155 3001 Lepr leptin receptor gene DOID:9970 obesity disease_progression IMP D RGD:12911217|PMID:27465994 20201210 RGD 3001 Lepr leptin receptor gene DOID:9970 obesity no_association ISO RGD:735832 D RGD:10412023|PMID:9545018 20151111 RGD 3001 Lepr leptin receptor gene DOID:9970 obesity sexual_dimorphism IAGP D RGD:7365117|PMID:20159938 20201210 RGD compared to BN 3001 Lepr leptin receptor gene DOID:9970 obesity susceptibility ISO RGD:735832 D RGD:5128855|PMID:18204169 20110321 RGD DNA:polymorphism:exon:p.Q223R (human) 3001 Lepr leptin receptor gene DOID:9970 obesity treatment ISO RGD:10865 D RGD:10412018|PMID:16284652 20151111 RGD 3003 Lgals4 galectin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 3003 Lgals4 galectin 4 gene DOID:630 genetic disease ISO RGD:1351726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3003 Lgals4 galectin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 3004 Lgals5 galectin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:5485768 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3004 Lgals5 galectin 5 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:5485768 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 3004 Lgals5 galectin 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:5485768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 3004 Lgals5 galectin 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:5485768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 3004 Lgals5 galectin 5 gene DOID:2340 craniosynostosis ISO RGD:5485768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 3004 Lgals5 galectin 5 gene DOID:630 genetic disease ISO RGD:5485768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3004 Lgals5 galectin 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:5485768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 3004 Lgals5 galectin 5 gene DOID:9269 maple syrup urine disease ISO RGD:5485768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 3004 Lgals5 galectin 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:5485768 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 3005 Lgals9 galectin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:736794 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 3005 Lgals9 galectin 9 gene DOID:10952 nephritis ISO RGD:736794 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11044214 3005 Lgals9 galectin 9 gene DOID:630 genetic disease ISO RGD:736794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3005 Lgals9 galectin 9 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:9685206|PMID:17706429 20141229 RGD 3006 Lhb luteinizing hormone subunit beta gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:69097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 3006 Lhb luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:7240710 20150401 OMIM 3006 Lhb luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia PMID:11384661|PMID:12189497|PMID:12620433|PMID:15602022|PMID:1727547|PMID:17761593|PMID:19126631|PMID:19890128|PMID:22723313|PMID:25741868|PMID:28492532|PMID:429481|PMID:8979264|PMID:9457942|PMID:9694256 3006 Lhb luteinizing hormone subunit beta gene DOID:0111076 progressive familial heart block type IB ISO RGD:69097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 3006 Lhb luteinizing hormone subunit beta gene DOID:10763 hypertension ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3006 Lhb luteinizing hormone subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:20378617 3006 Lhb luteinizing hormone subunit beta gene DOID:12336 male infertility ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:387166|PMID:10739843|PMID:15602022 3006 Lhb luteinizing hormone subunit beta gene DOID:12700 hyperprolactinemia ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6770916 3006 Lhb luteinizing hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 3006 Lhb luteinizing hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1727547|PMID:8263139|PMID:15602022|PMID:18449926 3006 Lhb luteinizing hormone subunit beta gene DOID:2696 Leydig cell tumor ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 3006 Lhb luteinizing hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69097 D RGD:28711759|PMID:20651845 20200604 RGD protein:increased expression:adenohypophysis (human) 3006 Lhb luteinizing hormone subunit beta gene DOID:630 genetic disease ISO RGD:69097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3006 Lhb luteinizing hormone subunit beta gene DOID:9001239 Delayed Puberty ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15602022 3006 Lhb luteinizing hormone subunit beta gene DOID:9001310 Tobacco Use Disorder ISO RGD:69097 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 3006 Lhb luteinizing hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3006 Lhb luteinizing hormone subunit beta gene DOID:9002554 Tachycardia ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3006 Lhb luteinizing hormone subunit beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69097 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 3006 Lhb luteinizing hormone subunit beta gene DOID:9007001 Bradycardia ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6350720 3006 Lhb luteinizing hormone subunit beta gene DOID:9007284 Precocious Puberty ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 3006 Lhb luteinizing hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9457942 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:737217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:737217 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7692306|PMID:16684832|PMID:18345393|PMID:19209621|PMID:26831561 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:7240710 20130221 OMIM 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity PMID:10084607|PMID:11134146|PMID:11391350|PMID:11849253|PMID:11867621|PMID:12679452|PMID:16123233|PMID:16684832|PMID:16887451|PMID:17030087|PMID:17055147|PMID:17055151|PMID:21490077|PMID:2244890|PMID:23686864|PMID:23861372|PMID:23982246|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26467025|PMID:27532428|PMID:28339861|PMID:28492532|PMID:29654692|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8855841|PMID:8929952|PMID:8943222|PMID:9039330|PMID:9467560|PMID:9661624|PMID:9703386|PMID:9851790 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7719343 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:7240710 20130221 OMIM 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female PMID:11041448|PMID:11849253|PMID:12050206|PMID:12679452|PMID:15372531|PMID:15472221|PMID:16123233|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7581384|PMID:7692306|PMID:7714085|PMID:7719343|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8923827|PMID:8943222|PMID:9514160|PMID:9626144|PMID:9703386|PMID:9817592|PMID:9851790 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112260 Leydig cell hypoplasia type I ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I PMID:11041448|PMID:12679452|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8855841|PMID:8943222|PMID:9703386|PMID:9851790 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112261 Leydig cell hypoplasia type II ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type II PMID:10852464|PMID:9215288|PMID:9626653 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:12336 male infertility ISO RGD:737217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20164437 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer ISO RGD:737217 D RGD:2292539|PMID:17709176 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer onset ISO RGD:737217 D RGD:2292545|PMID:12679452 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer severity ISO RGD:737217 D RGD:2292541|PMID:17692113 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1923 disorder of sexual development ISO RGD:737217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22615892 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1924 hypogonadism ISO RGD:737217 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:12679452|PMID:2244890|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7556872|PMID:9851790 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2277 gonadal disease susceptibility ISO RGD:737217 D RGD:1600291|PMID:8929952 20070306 RGD DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:10870 D RGD:2302176|PMID:15967102 20081125 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10580072|PMID:11857565 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:2292537|PMID:11857565 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:10870 D RGD:2302176|PMID:15967102 20081125 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:737217 D RGD:2289157|PMID:11994539 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:3114 serous cystadenocarcinoma ISO RGD:737217 D RGD:2289157|PMID:11994539 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:737217 D RGD:2289157|PMID:11994539 20080422 RGD 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:3765 pseudohermaphroditism ISO RGD:737217 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:630 genetic disease ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:737217 D RGD:2289157|PMID:11994539 20081125 RGD mRNA:decreased expression:ovary 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9002826 Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty ISO RGD:737217 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty PMID:10580072|PMID:11857565 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7719343|PMID:19887492 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:2302177|PMID:15044717 20081125 RGD mRNA:splice variant (rat) 3007 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9008502 Anorchia ISO RGD:737217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Testicular regression syndrome PMID:25741868 3008 Lipa lipase A, lysosomal acid type gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:736562 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20557099 3008 Lipa lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:7240710 20130221 OMIM 3008 Lipa lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:18775687|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24033266|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25525159|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30270055|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8864960|PMID:8894696|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 3008 Lipa lipase A, lysosomal acid type gene DOID:0080600 COVID-19 ISO RGD:736562 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3008 Lipa lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:1600620|PMID:8146180 20070320 RGD 3008 Lipa lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:1600621|PMID:6097111 20070320 RGD 3008 Lipa lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:1056246|PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30249571|PMID:30270055|PMID:30665623|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:31412917|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8894696|PMID:8956047|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 3008 Lipa lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISS RGD:736563 D RGD:13592920 20190808 MouseDO 3008 Lipa lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24295952 3008 Lipa lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:1600621|PMID:6097111 20070320 RGD 3008 Lipa lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cholesteryl ester storage disease PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29958253|PMID:30684275|PMID:31182375|PMID:31230978|PMID:31392116|PMID:7499245|PMID:7751811|PMID:7759067|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 3008 Lipa lipase A, lysosomal acid type gene DOID:3393 coronary artery disease ISO RGD:736562 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328|PMID:35590109 3008 Lipa lipase A, lysosomal acid type gene DOID:630 genetic disease ISO RGD:736562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3008 Lipa lipase A, lysosomal acid type gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:736562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 3008 Lipa lipase A, lysosomal acid type gene DOID:9000784 Fibrosis ISO RGD:736562 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:35679793 3008 Lipa lipase A, lysosomal acid type gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:736562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 3009 Lipc lipase C, hepatic type gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 3009 Lipc lipase C, hepatic type gene DOID:10652 Alzheimer's disease ISO RGD:736877 D RGD:1600644|PMID:17175070 20171106 RGD DNA:SNPs: :rs6084 (human) 3009 Lipc lipase C, hepatic type gene DOID:10652 Alzheimer's disease no_association ISO RGD:736877 D RGD:1600644|PMID:17175070 20070321 RGD DNA:SNPs: :rs6074, rs6083, rs6084 (human) 3009 Lipc lipase C, hepatic type gene DOID:1168 familial hyperlipidemia IDA D RGD:1581787|PMID:12935429 20090608 RGD protein:reduced expression:plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1883393 3009 Lipc lipase C, hepatic type gene DOID:11801 protein-energy malnutrition IDA D RGD:2308792|PMID:7666262 20090608 RGD protein:reduced expression:plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:1184 nephrotic syndrome IDA D RGD:2308789|PMID:9186885 20090608 RGD protein, mRNA:reduced expression:liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2308781|PMID:14531811 20090608 RGD protein:reduced expression:serum (rat) 3009 Lipc lipase C, hepatic type gene DOID:13809 familial combined hyperlipidemia ISO RGD:736877 D RGD:1580512|PMID:16338252 19990101 RGD 3009 Lipc lipase C, hepatic type gene DOID:1459 hypothyroidism IDA D RGD:2308783|PMID:12841343 20090608 RGD protein:reduced expression:plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:1459 hypothyroidism IDA D RGD:2308790|PMID:9106496 20090608 RGD mRNA, protein:reduced expression:hepatocyte, extracellular space (rat) 3009 Lipc lipase C, hepatic type gene DOID:2018 hyperinsulinism IDA D RGD:2308800|PMID:7047662 20090608 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:736877 D RGD:2308794|PMID:1592086 20090608 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:736877 D RGD:2308844|PMID:11095452 20090610 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:2237 hepatitis IDA D RGD:2308799|PMID:7078435 20090608 RGD protein:reduced expression:plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:2717 Bloom syndrome ISO RGD:736877 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3009 Lipc lipase C, hepatic type gene DOID:3146 lipid metabolism disorder ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1671786|PMID:1883393|PMID:15292318 3009 Lipc lipase C, hepatic type gene DOID:326 ischemia IEP D RGD:2308796|PMID:1918876 20090609 RGD protein:decreased expression:liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:1331525|PMID:15118671 19990101 GAD 3009 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:1600663|PMID:15099346 20070322 RGD 3009 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:2308839|PMID:11916946 20090610 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human) 3009 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease no_association ISO RGD:736877 D RGD:1600664|PMID:12689525 20070322 RGD 3009 Lipc lipase C, hepatic type gene DOID:341 peripheral vascular disease ISO RGD:736877 D RGD:2308822|PMID:18413186 20090610 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human) 3009 Lipc lipase C, hepatic type gene DOID:557 kidney disease resistance ISO RGD:736877 D RGD:2308823|PMID:16928730 20090610 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human) 3009 Lipc lipase C, hepatic type gene DOID:557 kidney disease susceptibility ISO RGD:736877 D RGD:2308828|PMID:15983323 20090610 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human) 3009 Lipc lipase C, hepatic type gene DOID:630 genetic disease ISO RGD:736877 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 3009 Lipc lipase C, hepatic type gene DOID:783 end stage renal disease IDA D RGD:2308788|PMID:8636395 20090608 RGD protein, mRNA:decreased expression:hepatocytes, liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:9000528 Coronary Disease susceptibility ISO RGD:736877 D RGD:2308824|PMID:16570154 20090610 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) 3009 Lipc lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia IDA D RGD:2308793|PMID:7830494 20090608 RGD protein, mRNA:decreased expression:plasma, liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:10871 D RGD:2308841|PMID:11279518 20090610 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse) 3009 Lipc lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:736877 D RGD:2308850|PMID:6340423 20090610 RGD associated with Diabetes Mellitus; protein:decreased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:9001542 Albuminuria ISO RGD:736877 D RGD:2308836|PMID:8666151 20090610 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:9002427 Fetal Macrosomia IEP D RGD:2308786|PMID:10600655 20090609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:9002513 Hypoproteinemia IAGP D RGD:2308785|PMID:10844597 20090608 RGD protein:reduced expression:plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:7240710 20181003 OMIM 3009 Lipc lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslipidemia | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 12 | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 PMID:15292318|PMID:18364377|PMID:25741868|PMID:28492532 3009 Lipc lipase C, hepatic type gene DOID:9004484 Sepsis IDA D RGD:2308797|PMID:2113037 20090608 RGD protein:decreased expression:diaphragm, heart, adipose tissue (rat) 3009 Lipc lipase C, hepatic type gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 3009 Lipc lipase C, hepatic type gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2307432|PMID:18758746 20090608 RGD protein:decreased activity:liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2308849|PMID:1868959 20090610 RGD protein:decreased activity:liver (rat) 3009 Lipc lipase C, hepatic type gene DOID:9006599 Hypertriglyceridemia ISO RGD:736877 D RGD:2308846|PMID:187516 20090610 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:7240710 20140911 OMIM 3009 Lipc lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic lipase deficiency | ClinVar Annotator: match by term: LIPC DEFICIENCY PMID:10729390|PMID:12777476|PMID:1671786|PMID:17576681|PMID:1883393|PMID:19088157|PMID:21130455|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25361584|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:28951076|PMID:30333156|PMID:8123642|PMID:8732782|PMID:9536098 3009 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias IDA D RGD:2308798|PMID:6480830 20090608 RGD associated with Nephrosis; protein:decreased expression:plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18160998 3009 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:2308829|PMID:15941898 20090610 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) 3009 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:2308834|PMID:11427226 20090610 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:9007692 Insulin Resistance ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15504970 3009 Lipc lipase C, hepatic type gene DOID:9009039 Hyperemia ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330034 3009 Lipc lipase C, hepatic type gene DOID:9256 colorectal cancer ISO RGD:736877 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3009 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15126514|PMID:15656877 3009 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:2308826|PMID:16429317 20090610 RGD protein:increased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:7240710 20130221 OMIM 3009 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:18364377|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 3009 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736877 D RGD:2308830|PMID:15656877 20090610 RGD DNA:transition:promoter:-250G>A (human) 3009 Lipc lipase C, hepatic type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736877 D RGD:2308845|PMID:9580247 20090610 RGD protein:decreased expression:plasma (human) 3009 Lipc lipase C, hepatic type gene DOID:9970 obesity IAGP D RGD:2308784|PMID:11544558 20090608 RGD protein:altered expression:liver, plasma (rat) 3009 Lipc lipase C, hepatic type gene DOID:9970 obesity ISO RGD:736877 D RGD:2308835|PMID:12843191 20090610 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) 3010 Lipe lipase E, hormone sensitive type gene DOID:0050440 familial partial lipodystrophy ISO RGD:737132 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 3010 Lipe lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:7240710 20180912 OMIM 3010 Lipe lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy PMID:25741868 3010 Lipe lipase E, hormone sensitive type gene DOID:10763 hypertension ISO RGD:737132 D RGD:1625026|PMID:17318300 20070517 RGD gestational hypertension;DNA:polymorphism:promoter:-60C>G 3010 Lipe lipase E, hormone sensitive type gene DOID:114 heart disease IMP D RGD:2313583|PMID:18413675 20091002 RGD associated with Diabetes Mellitus, Experimental 3010 Lipe lipase E, hormone sensitive type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 3010 Lipe lipase E, hormone sensitive type gene DOID:1342 congenital hypoplastic anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 3010 Lipe lipase E, hormone sensitive type gene DOID:2340 craniosynostosis ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 3010 Lipe lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis IDA D RGD:1581868|PMID:10064727 20061028 RGD 3010 Lipe lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:737132 D RGD:1581867|PMID:10729384 20061028 RGD 3010 Lipe lipase E, hormone sensitive type gene DOID:5419 schizophrenia ISO RGD:737132 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3010 Lipe lipase E, hormone sensitive type gene DOID:630 genetic disease ISO RGD:737132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3010 Lipe lipase E, hormone sensitive type gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 3010 Lipe lipase E, hormone sensitive type gene DOID:9006599 Hypertriglyceridemia IDA D RGD:2313581|PMID:11016888 20091002 RGD 3010 Lipe lipase E, hormone sensitive type gene DOID:9006646 Metabolic Syndrome ISO RGD:10872 D RGD:329333017|PMID:29684438 20230426 RGD mRNA:increased expression:liver (mouse) 3010 Lipe lipase E, hormone sensitive type gene DOID:9269 maple syrup urine disease ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 3010 Lipe lipase E, hormone sensitive type gene DOID:9352 type 2 diabetes mellitus ISO RGD:737132 D RGD:2313584|PMID:15609025 20091002 RGD mRNA:decreased expression:subcutaneous adipose tissue 3010 Lipe lipase E, hormone sensitive type gene DOID:9970 obesity IEP D RGD:2313580|PMID:17712951 20091002 RGD mRNA:decreased expression:white fat 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:733152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0050777 Joubert syndrome ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733152 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:10908 hydrocephalus ISO RGD:733153 D RGD:1300301|PMID:15037549 19990101 RGD 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:12849 autistic disorder ISO RGD:733152 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:733152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3012 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 3014 Plagl1 PLAG1 like zinc finger 1 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:736872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 3014 Plagl1 PLAG1 like zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3014 Plagl1 PLAG1 like zinc finger 1 gene DOID:630 genetic disease ISO RGD:736872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3014 Plagl1 PLAG1 like zinc finger 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3015 Lox lysyl oxidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3015 Lox lysyl oxidase gene DOID:0080685 aortic dissection ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 3015 Lox lysyl oxidase gene DOID:10763 hypertension IDA D RGD:1581899|PMID:24127 20061030 RGD 3015 Lox lysyl oxidase gene DOID:10763 hypertension ISO RGD:736846 D RGD:1581896|PMID:8562290 20061030 RGD 3015 Lox lysyl oxidase gene DOID:12236 primary biliary cholangitis ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 3015 Lox lysyl oxidase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736846 D RGD:1581895|PMID:8638917 20061030 RGD 3015 Lox lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:34281165 3015 Lox lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165 3015 Lox lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:736846 D RGD:1581895|PMID:8638917 20061030 RGD 3015 Lox lysyl oxidase gene DOID:1838 Menkes disease ISS RGD:732343 D RGD:13592920 20180518 MouseDO OMIM:309400 3015 Lox lysyl oxidase gene DOID:1883 hepatitis C ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 3015 Lox lysyl oxidase gene DOID:1928 Williams-Beuren syndrome ISS RGD:732343 D RGD:13592920 20180518 MouseDO OMIM:194050 3015 Lox lysyl oxidase gene DOID:2043 hepatitis B ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 3015 Lox lysyl oxidase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:736846 D RGD:150520218|PMID:21282564 20211108 RGD 3015 Lox lysyl oxidase gene DOID:2349 arteriosclerosis IDA D RGD:1581899|PMID:24127 20061030 RGD 3015 Lox lysyl oxidase gene DOID:3144 cutis laxa ISO RGD:736846 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 3015 Lox lysyl oxidase gene DOID:3347 osteosarcoma ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23886186 3015 Lox lysyl oxidase gene DOID:3393 coronary artery disease IDA D RGD:1581886|PMID:12393934 20061030 RGD 3015 Lox lysyl oxidase gene DOID:3627 aortic aneurysm ISO RGD:732343 D RGD:1581885|PMID:12417550 20061030 RGD 3015 Lox lysyl oxidase gene DOID:4247 coronary restenosis IDA D RGD:1581881|PMID:15218472 20061030 RGD 3015 Lox lysyl oxidase gene DOID:5082 liver cirrhosis ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 3015 Lox lysyl oxidase gene DOID:57 aortic valve insufficiency ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 3015 Lox lysyl oxidase gene DOID:5773 oral submucous fibrosis ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 3015 Lox lysyl oxidase gene DOID:5844 myocardial infarction ISO RGD:732343 D RGD:1581883|PMID:14553832 20061030 RGD 3015 Lox lysyl oxidase gene DOID:630 genetic disease ISO RGD:736846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 3015 Lox lysyl oxidase gene DOID:6432 pulmonary hypertension ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 3015 Lox lysyl oxidase gene DOID:65 connective tissue disease ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 3015 Lox lysyl oxidase gene DOID:7693 abdominal aortic aneurysm IDA D RGD:1581887|PMID:10965315 20061030 RGD 3015 Lox lysyl oxidase gene DOID:893 Wilson disease ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 3015 Lox lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:7240710 20190315 OMIM 3015 Lox lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 3015 Lox lysyl oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3015 Lox lysyl oxidase gene DOID:9002884 Emphysema ISO RGD:736846 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868 3015 Lox lysyl oxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736846 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3015 Lox lysyl oxidase gene DOID:9005883 Pleural Effusion ISO RGD:736846 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868 3015 Lox lysyl oxidase gene DOID:9007023 Prenatal Injuries ISO RGD:736846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 3015 Lox lysyl oxidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3015 Lox lysyl oxidase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 3015 Lox lysyl oxidase gene DOID:9256 colorectal cancer severity ISO RGD:736846 D RGD:150520218|PMID:21282564 20211108 RGD 3015 Lox lysyl oxidase gene DOID:9675 pulmonary emphysema ISO RGD:736846 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868 3017 Lpl lipoprotein lipase gene DOID:0050700 cardiomyopathy ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 3017 Lpl lipoprotein lipase gene DOID:0080000 muscular disease ISO RGD:70836 D RGD:1302535|PMID:7635990 20150113 RGD 3017 Lpl lipoprotein lipase gene DOID:0080208 non-alcoholic fatty liver disease treatment IDA D RGD:13793398|PMID:30214514 20181005 RGD 3017 Lpl lipoprotein lipase gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:13794377|PMID:27978932 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:0080600 COVID-19 ISO RGD:70836 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3017 Lpl lipoprotein lipase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:70836 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532|PMID:32041611|PMID:33303402 3017 Lpl lipoprotein lipase gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532|PMID:32041611|PMID:33303402 3017 Lpl lipoprotein lipase gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:70836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 3017 Lpl lipoprotein lipase gene DOID:10608 celiac disease ISO RGD:70836 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:13793392|PMID:24004859 20181005 RGD 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:13793396|PMID:15331147 20181005 RGD DNA:polymorphism:intron 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:13799353|PMID:10206232 20181010 RGD DNA:point mutations: :p.N291S, p.S447X (human) 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:5685661|PMID:16013913 20181005 RGD DNA:SNPs: :rs268, rs328 (human) 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:13793395|PMID:27897113 20181005 RGD DNA:SNPs: :multiple 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:13793397|PMID:12133567 20181005 RGD DNA:point mutations: :p.N291S, p.S447X (human) 3017 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease severity ISO RGD:70836 D RGD:13793393|PMID:16965549 20181005 RGD DNA, mRNA:SNP, decreased expression: :rs285 (human) 3017 Lpl lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 3017 Lpl lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:1580535|PMID:16132104 19990101 RGD 3017 Lpl lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 3017 Lpl lipoprotein lipase gene DOID:1168 familial hyperlipidemia treatment IDA D RGD:13794383|PMID:29931882 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:1287 cardiovascular system disease ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 3017 Lpl lipoprotein lipase gene DOID:12930 dilated cardiomyopathy ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:28492532|PMID:32041611|PMID:33303402 3017 Lpl lipoprotein lipase gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:2308781|PMID:14531811 20121115 RGD 3017 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:7240710 20130221 OMIM 3017 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26975783|PMID:27055971|PMID:27142713|PMID:27150867|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:30150141|PMID:30210108|PMID:31589614|PMID:31619059|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:9401010|PMID:9550358|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:1302536|PMID:1907278 20150113 RGD DNA:missense mutation:exon:p.D156G (human) 3017 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:1556752|PMID:9973300 20180129 RGD 3017 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:1580533|PMID:16431216 19990101 RGD 3017 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:7240710 20130221 OMIM 3017 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:1752947|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:1907278|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24627108|PMID:24646025|PMID:24793350|PMID:2536938|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:27055971|PMID:27142713|PMID:27153815|PMID:27573733|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:31619059|PMID:6645961|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8843465|PMID:8858123|PMID:8872057|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1521525|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:20650961|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:2536938|PMID:25525159|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27153815|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8858123|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment IDA D RGD:13794382|PMID:26996629 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:1883 hepatitis C ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17517063 3017 Lpl lipoprotein lipase gene DOID:305 carcinoma ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3017 Lpl lipoprotein lipase gene DOID:3393 coronary artery disease ISO RGD:70836 D RGD:1580537|PMID:8641022 19990101 RGD 3017 Lpl lipoprotein lipase gene DOID:4989 pancreatitis ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18936103 3017 Lpl lipoprotein lipase gene DOID:5844 myocardial infarction susceptibility ISO RGD:70836 D RGD:2313302|PMID:18823627 20090916 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human) 3017 Lpl lipoprotein lipase gene DOID:630 genetic disease ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12839295|PMID:18068174|PMID:22239554|PMID:24793350|PMID:25741868|PMID:25966443|PMID:27578109|PMID:28267856|PMID:28492532|PMID:31669931|PMID:32041611|PMID:33217533|PMID:33588820|PMID:35309119|PMID:35368694 3017 Lpl lipoprotein lipase gene DOID:783 end stage renal disease IEP D RGD:6909179|PMID:22009636 20121115 RGD 3017 Lpl lipoprotein lipase gene DOID:9000288 Chronic Intermittent Hypoxia treatment IEP D RGD:13793400|PMID:29968701 20181005 RGD 3017 Lpl lipoprotein lipase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3017 Lpl lipoprotein lipase gene DOID:9000528 Coronary Disease IEP D RGD:13794381|PMID:27000070 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:9000528 Coronary Disease ISO RGD:70836 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:10364086|PMID:10517255|PMID:21146168|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8199176|PMID:8541837|PMID:8872057 3017 Lpl lipoprotein lipase gene DOID:9000808 Hypercholesterolemia ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 3017 Lpl lipoprotein lipase gene DOID:9001285 Alcoholic Liver Diseases treatment IEP D RGD:13794376|PMID:28442378 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3017 Lpl lipoprotein lipase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:70836 D RGD:2306755|PMID:16813599 20121115 RGD 3017 Lpl lipoprotein lipase gene DOID:9002180 Familial Hyperchylomicronemia Syndrome ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1562620|PMID:1576758|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9279761|PMID:9401010|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15386377 3017 Lpl lipoprotein lipase gene DOID:9002928 Colonic Neoplasms ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3017 Lpl lipoprotein lipase gene DOID:9003370 Dyslipidemias ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 3017 Lpl lipoprotein lipase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3017 Lpl lipoprotein lipase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 3017 Lpl lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313303|PMID:18780778 20090916 RGD 3017 Lpl lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:13794379|PMID:27158912 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:9005749 Necrosis ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 3017 Lpl lipoprotein lipase gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia PMID:10560236|PMID:10619999|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9811888 3017 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia IDA D RGD:2313581|PMID:11016888 20091002 RGD 3017 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8147947|PMID:20657596 3017 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70836 D RGD:1580533|PMID:16431216 19990101 RGD 3017 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70836 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:25741868 3017 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:70836 D RGD:2313305|PMID:17848837 20090916 RGD 3017 Lpl lipoprotein lipase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:13794380|PMID:27071702 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:9007692 Insulin Resistance ISO RGD:10876 D RGD:2313300|PMID:18952837 20090916 RGD 3017 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:1580537|PMID:8641022 19990101 RGD 3017 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:2313298|PMID:18985010 20090916 RGD DNA:SNP:intron:13836C>A (rs343) (human) 3017 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:2313304|PMID:18321693 20090916 RGD associated with Obesity 3017 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:13793399|PMID:29981201 20181005 RGD 3017 Lpl lipoprotein lipase gene DOID:9970 obesity IEP D RGD:2313580|PMID:17712951 20091002 RGD mRNA:increased expression:white fat 3017 Lpl lipoprotein lipase gene DOID:9970 obesity ISO RGD:10876 D RGD:2313300|PMID:18952837 20090916 RGD 3017 Lpl lipoprotein lipase gene DOID:9970 obesity ISO RGD:70836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 3017 Lpl lipoprotein lipase gene DOID:9970 obesity treatment IDA D RGD:13794378|PMID:27160499 20181008 RGD 3017 Lpl lipoprotein lipase gene DOID:9970 obesity treatment IEP D RGD:13793401|PMID:28514832 20181005 RGD 3020 Lta lymphotoxin alpha gene DOID:0050127 sinusitis susceptibility ISO RGD:1345394 D RGD:4143260|PMID:11037831 20100921 RGD DNA:polymorphism: : 3020 Lta lymphotoxin alpha gene DOID:0050553 JMP syndrome ISO RGD:1345394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3020 Lta lymphotoxin alpha gene DOID:0050697 chorioamnionitis severity ISO RGD:1345394 D RGD:12904055|PMID:15128916 20170516 RGD associated with Premature Birth;DNA:SNP:promoter:250G>A (human) 3020 Lta lymphotoxin alpha gene DOID:0080750 erythema nodosum ISO RGD:1345394 D RGD:8548773|PMID:19225544 20140319 RGD associated with Sarcoidosis;DNA:polymorphism:intron 3020 Lta lymphotoxin alpha gene DOID:1024 leprosy ISO RGD:1345394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17353895 3020 Lta lymphotoxin alpha gene DOID:1024 leprosy ISO RGD:1345394 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to PMID:15052269|PMID:17353895 3020 Lta lymphotoxin alpha gene DOID:1024 leprosy susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 3020 Lta lymphotoxin alpha gene DOID:10763 hypertension no_association ISO RGD:1345394 D RGD:1580415|PMID:15533732 20061031 RGD 3020 Lta lymphotoxin alpha gene DOID:11372 megacolon ISO RGD:1345394 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3020 Lta lymphotoxin alpha gene DOID:11394 adult respiratory distress syndrome ISO RGD:1345394 D RGD:4143247|PMID:16135717 20100921 RGD DNA:polymorhpism:blood: 3020 Lta lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:8548785|PMID:11591192 20140319 RGD DNA:polymorphism, haplotype 3020 Lta lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:8548802|PMID:22545387 20140320 RGD associated with Nasal Polyps 3020 Lta lymphotoxin alpha gene DOID:12361 Graves' disease ISO RGD:1345394 D RGD:8548778|PMID:1346144 20140319 RGD DNA:polymorphism 3020 Lta lymphotoxin alpha gene DOID:12361 Graves' disease no_association ISO RGD:1345394 D RGD:8548790|PMID:7928443 20140319 RGD DNA:polymorphism 3020 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:1345394 D RGD:8548776|PMID:20952683 20140319 RGD protein:increased expression:saliva, serum 3020 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:733657 D RGD:8548776|PMID:20952683 20140319 RGD 3020 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1345394 D RGD:8548787|PMID:22294627 20140319 RGD DNA:SNPs: :multiple (human) 3020 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1345394 D RGD:8548787|PMID:22294627 20140319 RGD DNA:SNP, haplotype:intron: (rs909253) (human) 3020 Lta lymphotoxin alpha gene DOID:13258 typhoid fever susceptibility ISO RGD:1345394 D RGD:36049756|PMID:11120931 20200716 RGD DNA:SNP:: 3020 Lta lymphotoxin alpha gene DOID:13406 pulmonary sarcoidosis susceptibility ISO RGD:1345394 D RGD:4143248|PMID:15713215 20100921 RGD DNA:SNP:intron: 3020 Lta lymphotoxin alpha gene DOID:13413 hepatic encephalopathy ISO RGD:1345394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9696492 3020 Lta lymphotoxin alpha gene DOID:1380 endometrial cancer susceptibility ISO RGD:1345394 D RGD:2313259|PMID:17045328 20090915 RGD DNA:polymorphism: :252A>G, 804C>A (human) 3020 Lta lymphotoxin alpha gene DOID:14069 cerebral malaria ISO RGD:733657 D RGD:10449455|PMID:12021316 20160105 RGD 3020 Lta lymphotoxin alpha gene DOID:1485 cystic fibrosis severity ISO RGD:1345394 D RGD:6767553|PMID:21993476 20120711 RGD DNA:polymorphism, haplotype: :252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:8548786|PMID:18409070 20140319 RGD DNA:polymorphism, haplotype: :252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:8548791|PMID:11841482 20140319 RGD DNA:SNP:intron 3020 Lta lymphotoxin alpha gene DOID:1679 cystitis IEP D RGD:6907118|PMID:11948286 20100920 RGD mRNA:increased expression:urinary bladder 3020 Lta lymphotoxin alpha gene DOID:1790 malignant mesothelioma ISO RGD:1345394 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 3020 Lta lymphotoxin alpha gene DOID:1909 melanoma disease_progression ISO RGD:1345394 D RGD:8548801|PMID:9182821 20140320 RGD 3020 Lta lymphotoxin alpha gene DOID:2018 hyperinsulinism ISO RGD:1345394 D RGD:1625034|PMID:9726033 20070517 RGD associated with Coronary Arteriosclerosis 3020 Lta lymphotoxin alpha gene DOID:2349 arteriosclerosis ISO RGD:733657 D RGD:1581936|PMID:11809756 20061031 RGD 3020 Lta lymphotoxin alpha gene DOID:2773 contact dermatitis ISO RGD:733657 D RGD:8548819|PMID:11390430 20140320 RGD 3020 Lta lymphotoxin alpha gene DOID:2841 asthma ISO RGD:1345394 D RGD:4143371|PMID:17536219 20100922 RGD DNA:polymorphism:intron 3020 Lta lymphotoxin alpha gene DOID:2841 asthma no_association ISO RGD:1345394 D RGD:4143254|PMID:12530118 20100921 RGD DNA:polymorphism:intron 3020 Lta lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:4143370|PMID:18947013 20100922 RGD DNA:polymorphism:intron 3020 Lta lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:4143373|PMID:15969671 20100922 RGD DNA:polymorphisms:promoter 3020 Lta lymphotoxin alpha gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1345394 D RGD:4143234|PMID:20180006 20100920 RGD DNA:polymorphism:intron:252G>A (human) 3020 Lta lymphotoxin alpha gene DOID:3070 high grade glioma treatment ISO RGD:1345394 D RGD:1625042|PMID:1883913 20070517 RGD 3020 Lta lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15266304 3020 Lta lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:1580414|PMID:15973460 19990101 RGD 3020 Lta lymphotoxin alpha gene DOID:3407 carotid artery disease ISO RGD:1345394 D RGD:1581937|PMID:17065682 20061031 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:3407 carotid artery disease susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) PMID:17065682|REF_RGD_ID:1581937 3020 Lta lymphotoxin alpha gene DOID:3526 cerebral infarction ISO RGD:1345394 D RGD:1580416|PMID:14593215 19990101 RGD 3020 Lta lymphotoxin alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345394 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 3020 Lta lymphotoxin alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345394 D RGD:4143264|PMID:9669810 20100921 RGD protein:increased expression:lung 3020 Lta lymphotoxin alpha gene DOID:418 systemic scleroderma susceptibility ISO RGD:1345394 D RGD:8548796|PMID:10600011 20140320 RGD DNA:SNP:intron:252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:4398 pustulosis of palm and sole ISO RGD:1345394 D RGD:8548804|PMID:12691703 20140320 RGD DNA:SNP:intron:IVS1 (human) 3020 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction ISO RGD:1345394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12426569|PMID:15129282 3020 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction ISO RGD:1345394 D RGD:1580417|PMID:12426569 19990101 RGD 3020 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301|PMID:15266304 3020 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction no_association ISO RGD:1345394 D RGD:1581940|PMID:15175864 20061031 RGD 3020 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction severity ISO RGD:1345394 D RGD:8548841|PMID:23398946 20140321 RGD DNA:SNP:exon:804C>A (p.T26N) (human) 3020 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 3020 Lta lymphotoxin alpha gene DOID:630 genetic disease ISO RGD:1345394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3020 Lta lymphotoxin alpha gene DOID:8505 dermatitis herpetiformis ISO RGD:1345394 D RGD:8548777|PMID:7914110 20140319 RGD DNA:polymorphism 3020 Lta lymphotoxin alpha gene DOID:8893 psoriasis susceptibility ISO RGD:1345394 D RGD:8548775|PMID:12709814 20140319 RGD DNA:SNP:intron:IVS1 (human) 3020 Lta lymphotoxin alpha gene DOID:8947 diabetic retinopathy no_association ISO RGD:1345394 D RGD:8548772|PMID:16979413 20140319 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) 3020 Lta lymphotoxin alpha gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1345394 D RGD:8548797|PMID:11399938 20140320 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: 3020 Lta lymphotoxin alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345394 D RGD:2313255|PMID:18575614 20090915 RGD DNA:polymorphism 3020 Lta lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:1625038|PMID:7593556 20070517 RGD mRNA:increased expression:spinal cord 3020 Lta lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4143220|PMID:9184655 20100920 RGD mRNA:increased expression:brain 3020 Lta lymphotoxin alpha gene DOID:9003817 Sudden Hearing Loss ISO RGD:1345394 D RGD:8548795|PMID:19833626 20140320 RGD DNA:polymorphism:intron:252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733657 D RGD:8548806|PMID:11145686 20140320 RGD 3020 Lta lymphotoxin alpha gene DOID:9004283 Transplant Rejection IEP D RGD:8548835|PMID:8356596 20140321 RGD 3020 Lta lymphotoxin alpha gene DOID:9004283 Transplant Rejection treatment IMP D RGD:8548836|PMID:2338821 20140321 RGD 3020 Lta lymphotoxin alpha gene DOID:9004484 Sepsis ISO RGD:1345394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22977509 3020 Lta lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:1345394 D RGD:1625035|PMID:9245742 20070517 RGD DNA:polymorphism 3020 Lta lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1345394 D RGD:1625036|PMID:7783649 20070517 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3020 Lta lymphotoxin alpha gene DOID:9007346 Cachexia susceptibility ISO RGD:1345394 D RGD:8548798|PMID:18953879 20140320 RGD associated with Breast Neoplasms;DNA:polymorphism:intron:252G>A (human) 3020 Lta lymphotoxin alpha gene DOID:9007692 Insulin Resistance no_association ISO RGD:1345394 D RGD:1625035|PMID:9245742 20070517 RGD DNA:polymorphism 3020 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis ISO RGD:1345394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12746914 3020 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis ISO RGD:1345394 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301 3020 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 3020 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis treatment ISO RGD:1345394 D RGD:8548821|PMID:22480318 20140320 RGD 3020 Lta lymphotoxin alpha gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1345394 D RGD:8548800|PMID:16950634 20140320 RGD DNA:SNP:intron:252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:9146 visceral leishmaniasis ISO RGD:733657 D RGD:8548789|PMID:15579454 20140319 RGD 3020 Lta lymphotoxin alpha gene DOID:9146 visceral leishmaniasis severity ISO RGD:1345394 D RGD:8548784|PMID:12438370 20140319 RGD DNA:polymorphisms 3020 Lta lymphotoxin alpha gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1345394 D RGD:8548799|PMID:7595196 20140320 RGD DNA:polymorphism:intron 3020 Lta lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345394 D RGD:2313261|PMID:16132956 20090915 RGD DNA:polymorphism: :p.T60N (human) 3020 Lta lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1345394 D RGD:1625033|PMID:15729581 20070517 RGD DNA:polymorphism: :p.T60N (human) 3020 Lta lymphotoxin alpha gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1345394 D RGD:8548782|PMID:20663564 20140319 RGD DNA:SNP, haplotype:CDS:rs2229094 (human) 3020 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:2313262|PMID:12622777 20090915 RGD DNA:polymorphism: :252A>G (human) 3020 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:2313263|PMID:11141334 20090915 RGD 3020 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1345394 D RGD:2313264|PMID:9342542 20090915 RGD protein:decreased expression:mononuclear cell 3020 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:2313253|PMID:19120272 20090915 RGD DNA:SNP (human) 3020 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:2313257|PMID:17989340 20090915 RGD DNA:polymorphism: :249A>G (human) 3020 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1345394 D RGD:8548842|PMID:8242903 20140321 RGD 3020 Lta lymphotoxin alpha gene DOID:9784 trichinosis ISO RGD:733657 D RGD:8548805|PMID:19564380 20140320 RGD 3025 Lypla1 lysophospholipase 1 gene DOID:630 genetic disease ISO RGD:735384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3026 Lyz2 lysozyme 2 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735254 D RGD:7240710 20140723 OMIM 3026 Lyz2 lysozyme 2 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10534505|PMID:11849445|PMID:12360495|PMID:12675840|PMID:15745733|PMID:16523055|PMID:1808634|PMID:21988333|PMID:24433109|PMID:25217048|PMID:25741868|PMID:28492532|PMID:8464497|PMID:8566845 3026 Lyz2 lysozyme 2 gene DOID:630 genetic disease ISO RGD:735254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3026 Lyz2 lysozyme 2 gene DOID:9004492 Familial Amyloidosis ISO RGD:735254 D RGD:1599840|PMID:8464497 20070216 RGD 3026 Lyz2 lysozyme 2 gene DOID:9004492 Familial Amyloidosis ISO RGD:735254 D RGD:1599842|PMID:12675840 20070216 RGD 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:0060163 body dysmorphic disorder ISO RGD:735485 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:11832 visual epilepsy IEP D RGD:9685329|PMID:11054811 20150102 RGD 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:3883 Lynch syndrome ISO RGD:735485 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:630 genetic disease ISO RGD:735485 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1395931|PMID:1560845|PMID:16046479 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:7148 rheumatoid arthritis ISO RGD:735485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 3028 Marcks myristoylated alanine rich protein kinase C substrate gene DOID:9005172 Lung Neoplasms ISO RGD:735485 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:1344591 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16917232 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:3044 food allergy IMP D RGD:2311549|PMID:14670821 20090723 RGD 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:5119 ovarian cyst ISO RGD:1344591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1344591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:8778 Crohn's disease IMP D RGD:2311550|PMID:11703369 20090723 RGD 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731299 D RGD:2311544|PMID:17827401 20090723 RGD 3029 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731299 D RGD:2311545|PMID:9313747 20090723 RGD 3030 Smad1 SMAD family member 1 gene DOID:0060001 withdrawal disorder ISO RGD:1353457 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 3030 Smad1 SMAD family member 1 gene DOID:0080600 COVID-19 ISO RGD:1353457 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3030 Smad1 SMAD family member 1 gene DOID:1184 nephrotic syndrome IEP D RGD:1643224|PMID:17803470 20071217 RGD 3030 Smad1 SMAD family member 1 gene DOID:12336 male infertility IEP D RGD:1643234|PMID:15704675 20071217 RGD protein:decreased expression:spermatogonia, spermatocytes, spermatids 3030 Smad1 SMAD family member 1 gene DOID:2921 glomerulonephritis IEP D RGD:1643235|PMID:15591053 20071217 RGD protein:increased phosphorylation:glomerulus 3030 Smad1 SMAD family member 1 gene DOID:2999 granulosa cell tumor ISO RGD:734156 D RGD:2299978|PMID:17967875 20080822 RGD 3030 Smad1 SMAD family member 1 gene DOID:630 genetic disease ISO RGD:1353457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3030 Smad1 SMAD family member 1 gene DOID:6432 pulmonary hypertension IDA D RGD:12903274|PMID:18367643 20170510 RGD protein:decreased expression, increased phosphorylation:lung 3030 Smad1 SMAD family member 1 gene DOID:6432 pulmonary hypertension IEP D RGD:1643222|PMID:17347486 20071217 RGD protein:decreased phosphorylation:lung, vascular associated smooth muscle cell 3030 Smad1 SMAD family member 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1643229|PMID:16447265 20071217 RGD 3030 Smad1 SMAD family member 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:1643227|PMID:17166487 20071217 RGD mRNA:increased expression:hypoglossal nucleus 3030 Smad1 SMAD family member 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:734156 D RGD:2299978|PMID:17967875 20080822 RGD 3030 Smad1 SMAD family member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353457 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 3030 Smad1 SMAD family member 1 gene DOID:9005643 Experimental Diabetes Mellitus severity IEP D RGD:1643228|PMID:16482100 20071217 RGD protein:increased expression:glomerulus, urine 3030 Smad1 SMAD family member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353457 D RGD:1643233|PMID:15911698 20071217 RGD 3030 Smad1 SMAD family member 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353457 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:26387786 3031 Smad2 SMAD family member 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347299 D RGD:152995482|PMID:31874165 20220624 RGD mRNA:increased expression:blood plasma (human) 3031 Smad2 SMAD family member 2 gene DOID:0060356 Vici syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 3031 Smad2 SMAD family member 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1347299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 3031 Smad2 SMAD family member 2 gene DOID:1059 intellectual disability ISO RGD:1347299 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3031 Smad2 SMAD family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:736957 D RGD:2299964|PMID:15548366 20080822 RGD 3031 Smad2 SMAD family member 2 gene DOID:1380 endometrial cancer ISO RGD:1347299 D RGD:2299970|PMID:12883738 20080822 RGD protein:increased expression:endometrium 3031 Smad2 SMAD family member 2 gene DOID:1793 pancreatic cancer ISO RGD:1347299 D RGD:14394490|PMID:10505717 20190322 RGD mRNA:increased expression:pancreas (human) 3031 Smad2 SMAD family member 2 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 3031 Smad2 SMAD family member 2 gene DOID:229 female reproductive system disease ISO RGD:736957 D RGD:2299962|PMID:16141389 20080822 RGD Endosalpingiosis 3031 Smad2 SMAD family member 2 gene DOID:2394 ovarian cancer ISO RGD:1347299 D RGD:2299974|PMID:10969799 20080822 RGD DNA:deletion, polymorphisms 3031 Smad2 SMAD family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1347299 D RGD:2300007|PMID:11809701 20080829 RGD 3031 Smad2 SMAD family member 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1347299 D RGD:14394493|PMID:26908446 20190322 RGD 3031 Smad2 SMAD family member 2 gene DOID:3883 Lynch syndrome ISO RGD:1347299 D RGD:1599900|PMID:10819637 20070220 RGD 3031 Smad2 SMAD family member 2 gene DOID:4001 ovarian carcinoma ISO RGD:1347299 D RGD:2299967|PMID:14985451 20080822 RGD 3031 Smad2 SMAD family member 2 gene DOID:4297 scimitar syndrome ISO RGD:1347299 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Anomalous pulmonary venous return 3031 Smad2 SMAD family member 2 gene DOID:4362 cervical cancer ISO RGD:1347299 D RGD:2299968|PMID:12894231 20080822 RGD DNA, mRNA:insertion, deletion, decreased expression:uterine cervix 3031 Smad2 SMAD family member 2 gene DOID:4450 renal cell carcinoma severity ISO RGD:1347299 D RGD:2299973|PMID:11332076 20080822 RGD protein:decreased expression:kidney 3031 Smad2 SMAD family member 2 gene DOID:5844 myocardial infarction treatment IEP D RGD:12903276|PMID:11087260 20170510 RGD 3031 Smad2 SMAD family member 2 gene DOID:630 genetic disease ISO RGD:1347299 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30157302 3031 Smad2 SMAD family member 2 gene DOID:684 hepatocellular carcinoma IDA D RGD:12880056|PMID:18971187 20170502 RGD 3031 Smad2 SMAD family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 3031 Smad2 SMAD family member 2 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:1643227|PMID:17166487 20170502 RGD mRNA:increased expression:hypoglossal nucleus 3031 Smad2 SMAD family member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347299 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 3031 Smad2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:7240710 20220209 OMIM 3031 Smad2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY PMID:23665959|PMID:30157302 3031 Smad2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:7240710 20220209 OMIM 3031 Smad2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 PMID:15210694|PMID:25741868|PMID:26247899|PMID:28283438|PMID:28492532|PMID:29392890|PMID:29967133|PMID:30157302|PMID:34655614 3031 Smad2 SMAD family member 2 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1347299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 3031 Smad2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1347299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 3031 Smad2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:736957 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 3031 Smad2 SMAD family member 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:1347299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 3031 Smad2 SMAD family member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9655392|PMID:15183723 3032 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 3032 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:17576681|PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:31085000|PMID:9536098 3032 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000 3032 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033 3032 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:16199547|PMID:17576681|PMID:21217753|PMID:21778426|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033|PMID:9536098 3032 Smad3 SMAD family member 3 gene DOID:0060071 pre-malignant neoplasm IDA D RGD:12903951|PMID:24680176 20170511 RGD protein:increased phosphorylation:liver 3032 Smad3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:7240710 20140911 OMIM 3032 Smad3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C PMID:15350224|PMID:16828225|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:22167769|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:27724990|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31915033|PMID:32154675|PMID:33125268 3032 Smad3 SMAD family member 3 gene DOID:0080334 aortic valve disease 2 ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:28492532 3032 Smad3 SMAD family member 3 gene DOID:0080685 aortic dissection ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:16199547|PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532 3032 Smad3 SMAD family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343311 D RGD:2300396|PMID:17908958 20080916 RGD 3032 Smad3 SMAD family member 3 gene DOID:127 leiomyoma ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 3032 Smad3 SMAD family member 3 gene DOID:1324 lung cancer ISO RGD:1343311 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465804|PMID:26253951 3032 Smad3 SMAD family member 3 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:15350224|PMID:21217753|PMID:22167769|PMID:23554019|PMID:24033266|PMID:25644172|PMID:25741868|PMID:25944730|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29717556|PMID:30661052|PMID:30787465|PMID:32154675 3032 Smad3 SMAD family member 3 gene DOID:1380 endometrial cancer ISO RGD:1343311 D RGD:2299970|PMID:12883738 20080822 RGD protein:increased expression:endometrium 3032 Smad3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26854089|PMID:27724990|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:33125268|PMID:9536098 3032 Smad3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 3032 Smad3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 3032 Smad3 SMAD family member 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 3032 Smad3 SMAD family member 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 3032 Smad3 SMAD family member 3 gene DOID:1793 pancreatic cancer ISO RGD:1343311 D RGD:5490966|PMID:18772397 20140130 RGD DNA:mutations:exon 3032 Smad3 SMAD family member 3 gene DOID:2717 Bloom syndrome ISO RGD:1343311 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3032 Smad3 SMAD family member 3 gene DOID:3393 coronary artery disease ISO RGD:1343311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 3032 Smad3 SMAD family member 3 gene DOID:3627 aortic aneurysm ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21217753 3032 Smad3 SMAD family member 3 gene DOID:3627 aortic aneurysm ISO RGD:1343311 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868 3032 Smad3 SMAD family member 3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1343311 D RGD:38455996|PMID:28086903 20200807 RGD 3032 Smad3 SMAD family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1343311 D RGD:1599900|PMID:10819637 20070220 RGD 3032 Smad3 SMAD family member 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343311 D RGD:11074609|PMID:25375657 20220818 RGD protein:increased expression:lung (human) 3032 Smad3 SMAD family member 3 gene DOID:5082 liver cirrhosis ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21605584 3032 Smad3 SMAD family member 3 gene DOID:5199 ureteral obstruction ISO RGD:1343311 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 3032 Smad3 SMAD family member 3 gene DOID:520 aortic disease ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532|PMID:31098894 3032 Smad3 SMAD family member 3 gene DOID:630 genetic disease ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3032 Smad3 SMAD family member 3 gene DOID:65 connective tissue disease ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21217753|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:28492532|PMID:30661052|PMID:30739908|PMID:31085000 3032 Smad3 SMAD family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3032 Smad3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21217753|PMID:22772368 3032 Smad3 SMAD family member 3 gene DOID:8778 Crohn's disease ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 3032 Smad3 SMAD family member 3 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1343311 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 3032 Smad3 SMAD family member 3 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1343311 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 3032 Smad3 SMAD family member 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 3032 Smad3 SMAD family member 3 gene DOID:9001665 Aneurysm ISO RGD:1343311 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 3032 Smad3 SMAD family member 3 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:1643227|PMID:17166487 20170502 RGD mRNA:increased expression:hypoglossal nucleus 3032 Smad3 SMAD family member 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 3032 Smad3 SMAD family member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343311 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 3032 Smad3 SMAD family member 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1343311 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 3032 Smad3 SMAD family member 3 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21217753 3032 Smad3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 3032 Smad3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:735647 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 3032 Smad3 SMAD family member 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:12903950|PMID:22913380 20170511 RGD 3032 Smad3 SMAD family member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343311 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 3032 Smad3 SMAD family member 3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1343311 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: AAT1 3032 Smad3 SMAD family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:21217753 3032 Smad3 SMAD family member 3 gene DOID:9256 colorectal cancer ISO RGD:1343311 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3033 Smad4 SMAD family member 4 gene DOID:0050581 brachydactyly ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:11062492|PMID:11583957 20170501 RGD DNA:splice-site mutation:intron:IVS2+1G>A (human) 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:12880039|PMID:21465659 20170502 RGD DNA:nonsense mutation:exon:p.R445X (human) 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:1599898|PMID:9582123 20070220 RGD DNA:deletion:exon:c.1372_1375del (human) 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:7240710 20130221 OMIM 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27562837|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:35307828|PMID:36194927|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:0050860 colorectal adenoma ISO RGD:1352527 D RGD:21066339|PMID:11480790 20200210 RGD mRNA:increased expression:mucosa 3033 Smad4 SMAD family member 4 gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:12903951|PMID:24680176 20170511 RGD 3033 Smad4 SMAD family member 4 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868 3033 Smad4 SMAD family member 4 gene DOID:0080000 muscular disease ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 3033 Smad4 SMAD family member 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1352527 D RGD:21066335|PMID:26861460 20200210 RGD 3033 Smad4 SMAD family member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352527 D RGD:18937002|PMID:29696816 20200128 RGD protein:increased expression:liver: 3033 Smad4 SMAD family member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:69092 D RGD:18937002|PMID:29696816 20200128 RGD 3033 Smad4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:11062720|PMID:20101697 20170501 RGD DNA:mutations:exon:multiple 3033 Smad4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:11070199|PMID:15031030 20170501 RGD DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple 3033 Smad4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:7240710 20131030 OMIM 3033 Smad4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI PMID:10398437|PMID:10441006|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12116240|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21465659|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26572829|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:33824467|PMID:36194927|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:10534 stomach cancer ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 3033 Smad4 SMAD family member 4 gene DOID:1059 intellectual disability ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11977156|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24398790|PMID:25741868|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:29230941|PMID:30921096|PMID:31837202|PMID:32175297|PMID:36194927 3033 Smad4 SMAD family member 4 gene DOID:11054 urinary bladder cancer ISO RGD:1352527 D RGD:2299972|PMID:11783019 20080822 RGD protein:decreased expression:urinary bladder 3033 Smad4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:12347 osteogenesis imperfecta ISS RGD:69092 D RGD:13592920 20180518 MouseDO 3033 Smad4 SMAD family member 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1352527 D RGD:11035218|PMID:16613914 20160211 RGD DNA:missense,frameshift, nonsense mutations:exons: 3033 Smad4 SMAD family member 4 gene DOID:1324 lung cancer ISO RGD:1352527 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465805|PMID:26253951 3033 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10790223|PMID:15288293|PMID:21835029|PMID:22703879|PMID:23399955|PMID:24465802|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27146957|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29069792|PMID:29212164|PMID:29743074|PMID:30426508|PMID:30719162|PMID:30842500|PMID:31159747|PMID:31758407|PMID:32066632|PMID:32068069|PMID:32573726|PMID:33745841 3033 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:14654 prostatitis IEP D RGD:12880046|PMID:20608350 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:1520 colon carcinoma ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10398437|PMID:11920286|PMID:15235019|PMID:16152648|PMID:16436638|PMID:17873119|PMID:18355998|PMID:18823382|PMID:20301642|PMID:22316667|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:24033266|PMID:25741868|PMID:26171675|PMID:26467025|PMID:26681312|PMID:27375208|PMID:27613157|PMID:28492532|PMID:28944238|PMID:29634562|PMID:30210120|PMID:9582123 3033 Smad4 SMAD family member 4 gene DOID:1561 cognitive disorder ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 3033 Smad4 SMAD family member 4 gene DOID:1612 breast cancer ISO RGD:1352527 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26467025|PMID:28492532 3033 Smad4 SMAD family member 4 gene DOID:1793 pancreatic cancer ISO RGD:1352527 D RGD:5490966|PMID:18772397 20140130 RGD DNA:mutations:exon 3033 Smad4 SMAD family member 4 gene DOID:1793 pancreatic cancer ISO RGD:1352527 D RGD:7240710 20131211 OMIM 3033 Smad4 SMAD family member 4 gene DOID:2154 nephroblastoma ISO RGD:1352527 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:25741868|PMID:28492532 3033 Smad4 SMAD family member 4 gene DOID:219 colon cancer severity ISO RGD:1352527 D RGD:152995462|PMID:31932471 20220623 RGD mRNA:decreased expression:colon (human) 3033 Smad4 SMAD family member 4 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 3033 Smad4 SMAD family member 4 gene DOID:2213 hemorrhagic disease ISO RGD:1352527 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 3033 Smad4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:2299976|PMID:10451707 20080822 RGD DNA:missense mutation 3033 Smad4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:2299979|PMID:16951150 20080822 RGD mRNA:decreased expression:ovary 3033 Smad4 SMAD family member 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1352527 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12116240|PMID:15031030|PMID:26619011|PMID:6604412 3033 Smad4 SMAD family member 4 gene DOID:2671 transitional cell carcinoma ISO RGD:1352527 D RGD:2299980|PMID:16859125 20080822 RGD protein:decreased expression:urinary bladder 3033 Smad4 SMAD family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:1352527 D RGD:2300009|PMID:10331746 20080829 RGD DNA:substitutions:promoter 3033 Smad4 SMAD family member 4 gene DOID:2871 endometrial carcinoma severity ISO RGD:1352527 D RGD:2299966|PMID:15385128 20080822 RGD mRNA:decreased expression:endometrium 3033 Smad4 SMAD family member 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20565773 3033 Smad4 SMAD family member 4 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:9999419|PMID:18375249 20170510 RGD 3033 Smad4 SMAD family member 4 gene DOID:3119 gastrointestinal system cancer ISO RGD:1352527 D RGD:12880036|PMID:25389115 20170502 RGD associated with Juvenile Polyposis Syndrome 3033 Smad4 SMAD family member 4 gene DOID:3121 gallbladder cancer ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10479724|PMID:10764709|PMID:16152648|PMID:16436638|PMID:21465659|PMID:22810475|PMID:23239472|PMID:25931195|PMID:26689913|PMID:28492532 3033 Smad4 SMAD family member 4 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1352527 D RGD:21066334|PMID:15173084 20200210 RGD 3033 Smad4 SMAD family member 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment IDA D RGD:12880048|PMID:22558986 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:12880047|PMID:21941776 20170502 RGD associated with Silicosis 3033 Smad4 SMAD family member 4 gene DOID:3883 Lynch syndrome ISO RGD:1352527 D RGD:1599900|PMID:10819637 20070220 RGD 3033 Smad4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:4362 cervical cancer ISO RGD:1352527 D RGD:2299968|PMID:12894231 20080822 RGD mRNA:decreased expression:uterine cervix 3033 Smad4 SMAD family member 4 gene DOID:4440 seminoma ISO RGD:1352527 D RGD:2299975|PMID:10706106 20080822 RGD DNA, protein:insertion, decreased expression:1521insT 3033 Smad4 SMAD family member 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:1352527 D RGD:2299973|PMID:11332076 20080822 RGD protein:decreased expression:kidney 3033 Smad4 SMAD family member 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22748914|PMID:22810475|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25186627|PMID:25559809|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:27302097|PMID:27375208|PMID:27595937|PMID:27978560|PMID:28135145|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30719162|PMID:30809044|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32175297|PMID:32300199|PMID:33824467|PMID:36194927|PMID:8653691|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077|PMID:24952744 3033 Smad4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1352527 D RGD:18936999|PMID:16917866 20200128 RGD mRNA,protein:decreased expression:intrahepatic bile duct 3033 Smad4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1352527 D RGD:21066336|PMID:23981608 20200210 RGD 3033 Smad4 SMAD family member 4 gene DOID:4947 cholangiocarcinoma ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 3033 Smad4 SMAD family member 4 gene DOID:520 aortic disease ISO RGD:1352527 D RGD:11062588|PMID:25931195 20170502 RGD associated with Juvenile Polyposis Syndrome 3033 Smad4 SMAD family member 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69092 D RGD:12880035|PMID:19841536 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 3033 Smad4 SMAD family member 4 gene DOID:5844 myocardial infarction treatment IEP D RGD:12903276|PMID:11087260 20170510 RGD 3033 Smad4 SMAD family member 4 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1352527 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:21835029|PMID:22703879|PMID:23399955|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:30842500|PMID:32573726 3033 Smad4 SMAD family member 4 gene DOID:630 genetic disease ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11977156|PMID:17576681|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25741868|PMID:26633542|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:28628100|PMID:29230941|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31837202|PMID:32175297|PMID:36194927|PMID:9536098 3033 Smad4 SMAD family member 4 gene DOID:6432 pulmonary hypertension IEP D RGD:12903274|PMID:18367643 20170510 RGD 3033 Smad4 SMAD family member 4 gene DOID:6432 pulmonary hypertension IEP D RGD:1643222|PMID:17347486 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma IEP D RGD:12880056|PMID:18971187 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:21066341|PMID:22799322 20200210 RGD protein:decreased expression:liver 3033 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:21066342|PMID:29924446 20200210 RGD protein:increased expression:liver: 3033 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352527 D RGD:18182921|PMID:23922662 20200128 RGD 3033 Smad4 SMAD family member 4 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352527 D RGD:13782079|PMID:29951173 20180820 RGD mRNA:decreased expression:blood 3033 Smad4 SMAD family member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1352527 D RGD:2300005|PMID:15017584 20080827 RGD protein:increased expression:prostate gland 3033 Smad4 SMAD family member 4 gene DOID:8725 vascular dementia ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 3033 Smad4 SMAD family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352527 D RGD:2300007|PMID:11809701 20080829 RGD associated with Breast Neoplasms 3033 Smad4 SMAD family member 4 gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:69092 D RGD:12880038|PMID:23090737 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21105199 3033 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 3033 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:12880042|PMID:22158539 20170502 RGD DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) 3033 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:7240710 20141015 OMIM 3033 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21153778|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:33824467|PMID:36194927|PMID:7296942|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1352527 D RGD:21066333|PMID:10340381 20200210 RGD associated with colorectal carcinoma;DNA:mutation:cds: 3033 Smad4 SMAD family member 4 gene DOID:9001402 Acro-Osteolysis ISO RGD:1352527 D RGD:12880041|PMID:15990641 20170502 RGD associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) 3033 Smad4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 3033 Smad4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:12903949|PMID:19824107 20170511 RGD 3033 Smad4 SMAD family member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25559809|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29684080 3033 Smad4 SMAD family member 4 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:1643227|PMID:17166487 20170502 RGD mRNA:increased expression:hypoglossal nucleus 3033 Smad4 SMAD family member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352527 D RGD:2299981|PMID:15042598 20080822 RGD 3033 Smad4 SMAD family member 4 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1352527 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 3033 Smad4 SMAD family member 4 gene DOID:9002504 Odontogenic Cysts ISO RGD:69092 D RGD:12880040|PMID:19703995 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 3033 Smad4 SMAD family member 4 gene DOID:9003295 Heterotopic Ossification IMP D RGD:12880052|PMID:19940863 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:69092 D RGD:12880033|PMID:20735985 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352527 D RGD:21066342|PMID:29924446 20200210 RGD protein:increased expression:liver: 3033 Smad4 SMAD family member 4 gene DOID:9004739 Cicatrix treatment IMP D RGD:12880045|PMID:21255090 20170502 RGD 3033 Smad4 SMAD family member 4 gene DOID:9006113 Gallstones ISO RGD:1352527 D RGD:18936999|PMID:16917866 20200128 RGD mRNA,protein:decreased expression:intrahepatic bile duct 3033 Smad4 SMAD family member 4 gene DOID:9006618 Liver Metastasis ISO RGD:1352527 D RGD:21066338|PMID:17390050 20200210 RGD associated with colorectal carcinoma;protein:decreased expression:colorectum: 3033 Smad4 SMAD family member 4 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1352527 D RGD:18937000|PMID:29551247 20200128 RGD associated with colorectal carcinoma; DNA:mutations: : 3033 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1352527 D RGD:21066341|PMID:22799322 20200210 RGD associated with hepatocellular carcinoma; protein:altered expression:liver 3033 Smad4 SMAD family member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:12903950|PMID:22913380 20170511 RGD 3033 Smad4 SMAD family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352527 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:16144935|PMID:20565773|PMID:25944804 3033 Smad4 SMAD family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9008681 Deafness ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 3033 Smad4 SMAD family member 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 3033 Smad4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 3033 Smad4 SMAD family member 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1352527 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:24728327|PMID:25502805|PMID:25741868|PMID:26387786|PMID:28492532|PMID:31515488 3033 Smad4 SMAD family member 4 gene DOID:9256 colorectal cancer ISO RGD:1352527 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 3033 Smad4 SMAD family member 4 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:12880049|PMID:25017203 20170502 RGD 3034 Maf MAF bZIP transcription factor gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 PMID:24369382|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:32214227 3034 Maf MAF bZIP transcription factor gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:731331 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:25741868|PMID:26467025|PMID:28492532 3034 Maf MAF bZIP transcription factor gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:17576681|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29390993|PMID:30356099|PMID:31130284|PMID:31780880|PMID:31957018|PMID:9536098 3034 Maf MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:7240710 20130221 OMIM 3034 Maf MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:11772997|PMID:12620964|PMID:16470690|PMID:17982426|PMID:22345400|PMID:24664492|PMID:24968223|PMID:25064449|PMID:25741868|PMID:25865493|PMID:26694549|PMID:28492532|PMID:30659945|PMID:34217267 3034 Maf MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:7240710 20161109 OMIM 3034 Maf MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ayme-Gripp syndrome PMID:12072800|PMID:17935251|PMID:25064449|PMID:25741868|PMID:25865493|PMID:28492532|PMID:30659945|PMID:34217267|PMID:8834052|PMID:8867660 3034 Maf MAF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:731331 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 3034 Maf MAF bZIP transcription factor gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:731331 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 3034 Maf MAF bZIP transcription factor gene DOID:1826 epilepsy ISO RGD:731331 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3034 Maf MAF bZIP transcription factor gene DOID:1852 intrahepatic cholestasis ISO RGD:731331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 3034 Maf MAF bZIP transcription factor gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731331 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 3034 Maf MAF bZIP transcription factor gene DOID:5041 esophageal cancer ISO RGD:731331 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532 3034 Maf MAF bZIP transcription factor gene DOID:5419 schizophrenia ISO RGD:731331 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3034 Maf MAF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:31600839 3034 Maf MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:731331 D RGD:13204738|PMID:24664492 20170717 RGD DNA:missense mutation:exon:p.Q303P (c.908A>C) (human) 3034 Maf MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:731331 D RGD:1547889|PMID:11772997 20150113 RGD DNA:missense mutation: :p.R288P (human) 3034 Maf MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 3034 Maf MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:735352 D RGD:13204737|PMID:17374726 20170717 RGD DNA:missense mutation: :p.D90V (mouse) 3034 Maf MAF bZIP transcription factor gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:731331 D RGD:13204740|PMID:19182255 20170717 RGD DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) 3034 Maf MAF bZIP transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:731331 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 3034 Maf MAF bZIP transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731331 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 3034 Maf MAF bZIP transcription factor gene DOID:9538 multiple myeloma ISS RGD:735352 D RGD:13592920 20180518 MouseDO OMIM:254500 3035 Mag myelin-associated glycoprotein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:736776 D RGD:27226693|PMID:20399564 20200522 RGD 3035 Mag myelin-associated glycoprotein gene DOID:0110222 Brugada syndrome 5 ISO RGD:732303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 3035 Mag myelin-associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:7240710 20160120 OMIM 3035 Mag myelin-associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:17576681|PMID:24482476|PMID:25741868|PMID:26179919|PMID:28492532|PMID:28832565|PMID:31227335|PMID:31402626|PMID:9536098 3035 Mag myelin-associated glycoprotein gene DOID:11446 sciatic neuropathy treatment IDA D RGD:9685295|PMID:17705198 20141231 RGD 3035 Mag myelin-associated glycoprotein gene DOID:12217 Lewy body dementia ISO RGD:732303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 3035 Mag myelin-associated glycoprotein gene DOID:14330 Parkinson's disease ISO RGD:732303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 3035 Mag myelin-associated glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:732303 D RGD:9685292|PMID:2419505 20141231 RGD 3035 Mag myelin-associated glycoprotein gene DOID:2476 hereditary spastic paraplegia ISO RGD:732303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565|PMID:31402626 3035 Mag myelin-associated glycoprotein gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:9685232|PMID:15678116 20141230 RGD 3035 Mag myelin-associated glycoprotein gene DOID:543 dystonia ISO RGD:732303 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 3035 Mag myelin-associated glycoprotein gene DOID:573 nerve compression syndrome IEP D RGD:9685296|PMID:16764860 20141231 RGD 3035 Mag myelin-associated glycoprotein gene DOID:630 genetic disease ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3035 Mag myelin-associated glycoprotein gene DOID:9000998 Brain Injuries susceptibility IMP D RGD:9685230|PMID:17156367 20141230 RGD 3035 Mag myelin-associated glycoprotein gene DOID:9002498 Wallerian Degeneration IEP D RGD:9685301|PMID:12730963 20141231 RGD 3035 Mag myelin-associated glycoprotein gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis IEP D RGD:9685300|PMID:9820787 20141231 RGD protein:decreased expression:optic nerve 3036 Mak male germ cell-associated kinase gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:733464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 3036 Mak male germ cell-associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:7240710 20140911 OMIM 3036 Mak male germ cell-associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25385675|PMID:25741868|PMID:28492532|PMID:29781741|PMID:31456290 3036 Mak male germ cell-associated kinase gene DOID:10584 retinitis pigmentosa ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25324289|PMID:25385675|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:30718709|PMID:31456290|PMID:33576794 3036 Mak male germ cell-associated kinase gene DOID:630 genetic disease ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3036 Mak male germ cell-associated kinase gene DOID:8501 fundus dystrophy ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:21148103|PMID:21825139|PMID:24938718|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:32531858 3037 Mal mal, T-cell differentiation protein gene DOID:10581 metachromatic leukodystrophy ISO RGD:735676 D RGD:1358761|PMID:15193296 19990101 RGD 3037 Mal mal, T-cell differentiation protein gene DOID:1749 squamous cell carcinoma ISO RGD:735676 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 3037 Mal mal, T-cell differentiation protein gene DOID:630 genetic disease ISO RGD:735676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3037 Mal mal, T-cell differentiation protein gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735676 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 3037 Mal mal, T-cell differentiation protein gene DOID:9008939 Breast Neoplasms ISO RGD:735676 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208741 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:1338 congenital dyserythropoietic anemia ISS RGD:735706 D RGD:13592920 20180518 MouseDO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:630 genetic disease ISO RGD:735705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735705 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3038 Man2a1 mannosidase, alpha, class 2A, member 1 gene DOID:9074 systemic lupus erythematosus ISS RGD:735706 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1348586 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:1059 intellectual disability ISO RGD:1348586 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:2661 myoepithelioma ISO RGD:1348586 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1348586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:7240710 20130221 OMIM 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:10071201|PMID:11959458|PMID:12634058|PMID:1472354|PMID:14765545|PMID:15035660|PMID:15712269|PMID:16199547|PMID:16919251|PMID:17404523|PMID:17576681|PMID:17979865|PMID:18414213|PMID:19958498|PMID:20165920|PMID:20301570|PMID:21505070|PMID:22161967|PMID:22700954|PMID:23613340|PMID:24033266|PMID:24353136|PMID:24767253|PMID:25640679|PMID:25741868|PMID:25762455|PMID:26048034|PMID:26633542|PMID:26633546|PMID:26817023|PMID:27959697|PMID:28492532|PMID:28559085|PMID:29859105|PMID:30548430|PMID:31241255|PMID:32331969|PMID:32860008|PMID:34614013|PMID:4358183|PMID:724292|PMID:9158146|PMID:9370301|PMID:9536098|PMID:9758606|PMID:9915946 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:630 genetic disease ISO RGD:1348586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035660|PMID:16199547|PMID:17576681|PMID:19958498|PMID:20301570|PMID:21505070|PMID:22161967|PMID:23613340|PMID:24033266|PMID:25741868|PMID:25762455|PMID:26048034|PMID:28492532|PMID:29859105|PMID:30548430|PMID:31241255|PMID:9536098|PMID:9758606|PMID:9915946 3039 Man2b1 mannosidase, alpha, class 2B, member 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348586 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 3041 Maob monoamine oxidase B gene DOID:0050771 pheochromocytoma ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 3041 Maob monoamine oxidase B gene DOID:0060693 Brunner syndrome ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 3041 Maob monoamine oxidase B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732580 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3041 Maob monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:10046060|PMID:1627256 20150706 RGD 3041 Maob monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7816197|PMID:21075085 3041 Maob monoamine oxidase B gene DOID:12849 autistic disorder ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19221690 3041 Maob monoamine oxidase B gene DOID:12849 autistic disorder ISO RGD:732580 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3041 Maob monoamine oxidase B gene DOID:12858 Huntington's disease ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 3041 Maob monoamine oxidase B gene DOID:13382 megaloblastic anemia ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7430361 3041 Maob monoamine oxidase B gene DOID:13413 hepatic encephalopathy ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 3041 Maob monoamine oxidase B gene DOID:13580 cholestasis IEP D RGD:2307352|PMID:18802767 20100223 RGD protein:altered activity:hypothalamus (rat) 3041 Maob monoamine oxidase B gene DOID:14330 Parkinson's disease IEP D RGD:2316771|PMID:17417741 20100223 RGD protein:increased activity:striatum (rat) 3041 Maob monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 3041 Maob monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:1358484|PMID:9129714 19990101 RGD 3041 Maob monoamine oxidase B gene DOID:289 endometriosis ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 3041 Maob monoamine oxidase B gene DOID:5419 schizophrenia ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 3041 Maob monoamine oxidase B gene DOID:630 genetic disease ISO RGD:732580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3041 Maob monoamine oxidase B gene DOID:9002928 Colonic Neoplasms ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3041 Maob monoamine oxidase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732580 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3041 Maob monoamine oxidase B gene DOID:9005832 Amyloid Plaques ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7816197 3041 Maob monoamine oxidase B gene DOID:9006024 Hypotension ISO RGD:732580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 3041 Maob monoamine oxidase B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 3042 Map1a microtubule-associated protein 1A gene DOID:1459 hypothyroidism IEP D RGD:2304042|PMID:3252178 20090305 RGD protein:increased expression:cerebellum 3042 Map1a microtubule-associated protein 1A gene DOID:2717 Bloom syndrome ISO RGD:736437 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3042 Map1a microtubule-associated protein 1A gene DOID:630 genetic disease ISO RGD:736437 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3042 Map1a microtubule-associated protein 1A gene DOID:9256 colorectal cancer ISO RGD:736437 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3043 Map1b microtubule-associated protein 1B gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:25741868|PMID:29738522|PMID:30150678 3043 Map1b microtubule-associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:733041 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30150678 3043 Map1b microtubule-associated protein 1B gene DOID:11832 visual epilepsy IEP D RGD:2304015|PMID:12598335 20090305 RGD mRNA:increased expression:hippocampus 3043 Map1b microtubule-associated protein 1B gene DOID:11832 visual epilepsy IEP D RGD:2304062|PMID:11395167 20090305 RGD mRNA, protein:altered localization:brain 3043 Map1b microtubule-associated protein 1B gene DOID:1459 hypothyroidism IEP D RGD:2304042|PMID:3252178 20090305 RGD protein:increased expression:cerebellum 3043 Map1b microtubule-associated protein 1B gene DOID:1826 epilepsy ISO RGD:733041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3043 Map1b microtubule-associated protein 1B gene DOID:630 genetic disease ISO RGD:733041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3043 Map1b microtubule-associated protein 1B gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2304007|PMID:17880387 20090305 RGD protein:increased phosphorylation:spinal cord, neuron 3043 Map1b microtubule-associated protein 1B gene DOID:9000998 Brain Injuries IEP D RGD:2304029|PMID:10906717 20090305 RGD protein:increased expression, increased phosphorylation:brain 3043 Map1b microtubule-associated protein 1B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 3043 Map1b microtubule-associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:7240710 20200701 OMIM 3043 Map1b microtubule-associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 PMID:25741868|PMID:28492532|PMID:29738522|PMID:30150678|PMID:30979967|PMID:31317654|PMID:33268592 3043 Map1b microtubule-associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:7240710 20220413 OMIM 3043 Map1b microtubule-associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 83 PMID:25741868|PMID:33268592 3043 Map1b microtubule-associated protein 1B gene DOID:9003816 Macrocephaly ISO RGD:733041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 3043 Map1b microtubule-associated protein 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733041 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30150678 3043 Map1b microtubule-associated protein 1B gene DOID:9008086 Developmental Disabilities ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30979967 3044 Map2 microtubule-associated protein 2 gene DOID:10652 Alzheimer's disease IDA D RGD:6483322|PMID:22083255 20120516 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:11088 asphyxia neonatorum IEP D RGD:6483085|PMID:21858873 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:11294 arteriovenous malformation IEP D RGD:6483324|PMID:20873448 20120516 RGD protein:decreased expression:hippocampus 3044 Map2 microtubule-associated protein 2 gene DOID:11446 sciatic neuropathy IEP D RGD:6483083|PMID:21933624 20120514 RGD protein:decrease expression:dorsal root ganglion 3044 Map2 microtubule-associated protein 2 gene DOID:1206 Rett syndrome ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 3044 Map2 microtubule-associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 3044 Map2 microtubule-associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:6483091|PMID:20024519 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:12858 Huntington's disease ISO RGD:733668 D RGD:6483090|PMID:20092829 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:733668 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 3044 Map2 microtubule-associated protein 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 3044 Map2 microtubule-associated protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733668 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 3044 Map2 microtubule-associated protein 2 gene DOID:2316 brain ischemia IEP D RGD:6483082|PMID:21948028 20120514 RGD protein:increased expression:serum 3044 Map2 microtubule-associated protein 2 gene DOID:3328 temporal lobe epilepsy IEP D RGD:6483080|PMID:22265658 20120514 RGD protein:decreased expression:brain 3044 Map2 microtubule-associated protein 2 gene DOID:3526 cerebral infarction IDA D RGD:6483079|PMID:22444278 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733669 D RGD:6483319|PMID:19966940 20120516 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:5419 schizophrenia ISO RGD:733668 D RGD:6483090|PMID:20092829 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:630 genetic disease ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3044 Map2 microtubule-associated protein 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3044 Map2 microtubule-associated protein 2 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:6483323|PMID:21704982 20120516 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:9000998 Brain Injuries IDA D RGD:6483089|PMID:20568963 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:9000998 Brain Injuries IEP D RGD:6483087|PMID:21401443 20120514 RGD protein:decreased expression:cerebral cortex, neuron 3044 Map2 microtubule-associated protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3044 Map2 microtubule-associated protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:6483088|PMID:21300124 20120514 RGD 3044 Map2 microtubule-associated protein 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:6483082|PMID:21948028 20120514 RGD protein:increased expression:serum 3044 Map2 microtubule-associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733668 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3044 Map2 microtubule-associated protein 2 gene DOID:9005930 Endotoxemia ISO RGD:733669 D RGD:6483086|PMID:21421895 20120514 RGD mRNA, protein:decreased expression:neuron 3045 Mapk13 mitogen activated protein kinase 13 gene DOID:0050553 JMP syndrome ISO RGD:737240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3045 Mapk13 mitogen activated protein kinase 13 gene DOID:13580 cholestasis ISO RGD:737240 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 3045 Mapk13 mitogen activated protein kinase 13 gene DOID:630 genetic disease ISO RGD:737240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10620750 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:619570 D RGD:13210782|PMID:25405740 20170908 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0060001 withdrawal disorder ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:619570 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:619570 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:619570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0080599 Coronavirus infectious disease ISO RGD:619570 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:619570 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619571 D RGD:13800563|PMID:28079060 20181016 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:10808 gastric ulcer IDA D RGD:13800896|PMID:25518106 20181019 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:12098 trigeminal neuralgia ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:619570 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:619570 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:619570 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:1749 squamous cell carcinoma ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:1882 atrial heart septal defect ISO RGD:619570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:2316 brain ischemia ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:234 colon adenocarcinoma ISO RGD:619570 D RGD:13210775|PMID:24691442 20170907 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:619570 D RGD:13703137|PMID:14760076 20180806 RGD protein:decreased phosphorylation:endometrium (human) 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:619570 D RGD:13703125|PMID:23402905 20180803 RGD human tumor in a mouse model 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:2871 endometrial carcinoma ISO RGD:619570 D RGD:13702082|PMID:29081408 20180716 RGD protein:increased expression:endometrium (human) 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:2871 endometrial carcinoma severity ISO RGD:619570 D RGD:13441552|PMID:22459351 20180803 RGD protein:increased phosphorylation:endometrium (human) 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:619570 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:3070 high grade glioma ISO RGD:619571 D RGD:13702865|PMID:27256374 20180720 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:13800881|PMID:27152455 20181018 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:619570 D RGD:14348973|PMID:20179210 20190205 RGD human cells in mouse model 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:5199 ureteral obstruction treatment IDA D RGD:13800569|PMID:28063381 20181016 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:5419 schizophrenia ISO RGD:619570 D RGD:13800775|PMID:25048004 20181018 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:5419 schizophrenia ISO RGD:619570 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:619570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619570 D RGD:13800893|PMID:25907942 20181019 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9000040 Hypertrophy ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9000099 Experimental Colitis treatment IDA D RGD:13800567|PMID:29037916 20181016 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22247605 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9001390 Testis Reperfusion Injury treatment IMP D RGD:13800876|PMID:15944243 20181018 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:13800880|PMID:27396351 20181018 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619570 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002211 Hyperalgesia ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002549 Shock treatment IDA D RGD:13800566|PMID:29110153 20181016 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:619570 D RGD:13441559|PMID:24917306 20180718 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9004332 Osteoarthritis, Experimental IEP D RGD:13800565|PMID:29364174 20181016 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619570 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9004462 Atrophy ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9004484 Sepsis ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:619570 D RGD:13210776|PMID:23467982 20170907 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12083368 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:13800872|PMID:29435821 20181018 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20692647 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:5131482|PMID:21330660 20150717 RGD protein:decreased phosphorylation:cornea 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9006205 Animal Disease Models ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:619570 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:13800893|PMID:25907942 20181019 RGD associated with Diabetes Mellitus, Experimental 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007402 Gliosis ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007456 Female Infertility ISO RGD:619570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007692 Insulin Resistance treatment IDA D RGD:13800789|PMID:23349861 20181018 RGD associated with polycystic ovary syndrome 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:619570 D RGD:13441559|PMID:24917306 20171027 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13800564|PMID:29741915 20181016 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13800874|PMID:28814571 20181018 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13800900|PMID:25345742 20181022 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:619570 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619570 D RGD:13210794|PMID:10323886 20170911 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13506776|PMID:27259299 20180214 RGD protein:hyperphosphorylation:pancreas: 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13506785|PMID:21911753 20180214 RGD protein:hypophosphorylation:pancreatic islet: 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619571 D RGD:13506777|PMID:28757391 20180214 RGD protein:increased expression:dorsal horn: 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:13506786|PMID:19164460 20180214 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:619571 D RGD:13506775|PMID:26860984 20180214 RGD 3046 Mapk3 mitogen activated protein kinase 3 gene DOID:9970 obesity ISO RGD:619570 D RGD:13782055|PMID:20074784 20180816 RGD protein:increased phosphorylation:endometrium (human) 3047 Mapk4 mitogen-activated protein kinase 4 gene DOID:1059 intellectual disability ISO RGD:736964 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3047 Mapk4 mitogen-activated protein kinase 4 gene DOID:630 genetic disease ISO RGD:736964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0050632 oculocutaneous albinism ISO RGD:735888 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0050952 spastic ataxia ISO RGD:735888 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:735888 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:28492532 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:7240710 20141015 OMIM 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:10655068|PMID:12438241|PMID:12512044|PMID:15249642|PMID:16199547|PMID:17576681|PMID:18032455|PMID:20558530|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:23286897|PMID:25133958|PMID:25741868|PMID:28492532|PMID:30369941|PMID:34440436|PMID:9536098 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:7240710 20130221 OMIM 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:10655068|PMID:12512044|PMID:15249642|PMID:18032455|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:25741868|PMID:28492532|PMID:30369941|PMID:9584266 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:11054 urinary bladder cancer severity ISO RGD:735888 D RGD:2315629|PMID:18648853 20100106 RGD 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:1826 epilepsy ISO RGD:735888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:2477 motor peripheral neuropathy ISO RGD:735888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10655068 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:3459 breast carcinoma severity ISO RGD:735888 D RGD:2315635|PMID:15941950 20100106 RGD 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:409 liver disease ISO RGD:735888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12512044 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:4450 renal cell carcinoma ISO RGD:735888 D RGD:2315633|PMID:14707866 20100106 RGD 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:630 genetic disease ISO RGD:735888 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:657 adenoma ISO RGD:735888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:735888 D RGD:2315630|PMID:18343427 20100106 RGD 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:22919386|PMID:24763052 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:2315628|PMID:20003233 20100106 RGD mRNA, protein:increased expression:prostate gland 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735888 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:735888 D RGD:2315632|PMID:16315020 20100106 RGD 3048 Amacr alpha-methylacyl-CoA racemase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0060903 thrombosis ISO RGD:731461 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25339356 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:731461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:10763 hypertension IMP D RGD:5129169|PMID:21040717 20110325 RGD associated with Sleep Apnea Syndromes 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12236 primary biliary cholangitis IEP D RGD:9685452|PMID:17532087 20150109 RGD 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12930 dilated cardiomyopathy treatment IEP D RGD:8549486|PMID:22120037 20140326 RGD 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:1686 glaucoma treatment IMP D RGD:9685447|PMID:23702784 20150109 RGD 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:6000 congestive heart failure IEP D RGD:8549482|PMID:21963897 20140326 RGD mRNA, protein:decreased expression:heart 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:630 genetic disease ISO RGD:731461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2316776|PMID:19793108 20100225 RGD mRNA:increased expression:liver (rat) 3049 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313799|PMID:18679036 20100225 RGD mRNA:increased expression:renal cortex (rat) 3050 Mat1a methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:1599915|PMID:9042912 20070221 RGD 3050 Mat1a methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:7240710 20151216 OMIM 3050 Mat1a methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia PMID:10677294|PMID:11278456|PMID:1527987|PMID:15935930|PMID:16199547|PMID:1683972|PMID:17576681|PMID:18500573|PMID:20675163|PMID:23425511|PMID:23430947|PMID:24231718|PMID:24445979|PMID:25638462|PMID:25741868|PMID:26289392|PMID:26933843|PMID:28186605|PMID:28492532|PMID:28748147|PMID:30389272|PMID:31061746|PMID:32335878|PMID:32496220|PMID:3812486|PMID:4421454|PMID:7229751|PMID:7560086|PMID:7573050|PMID:8770875|PMID:9042912|PMID:9482646|PMID:9536098 3050 Mat1a methionine adenosyltransferase 1A gene DOID:3213 demyelinating disease ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 3050 Mat1a methionine adenosyltransferase 1A gene DOID:630 genetic disease ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26933843|PMID:28492532 3050 Mat1a methionine adenosyltransferase 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 3050 Mat1a methionine adenosyltransferase 1A gene DOID:9002221 Hyperplasia ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 3050 Mat1a methionine adenosyltransferase 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732753 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3050 Mat1a methionine adenosyltransferase 1A gene DOID:9252 amino acid metabolic disorder ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7560086|PMID:8770875 3050 Mat1a methionine adenosyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 3050 Mat1a methionine adenosyltransferase 1A gene DOID:936 brain disease ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 3050 Mat1a methionine adenosyltransferase 1A gene DOID:9452 fatty liver disease ISO RGD:732753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:0060041 autism spectrum disorder ISO RGD:736966 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736966 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:630 genetic disease ISO RGD:736966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:7240710 20140911 OMIM 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 PMID:16283874|PMID:22197487|PMID:22331663|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24012041|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:25810087|PMID:26072672|PMID:26539716|PMID:27134495|PMID:28492532|PMID:28963081|PMID:29313109|PMID:33852188 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:7240710 20210707 OMIM 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant PMID:16283874|PMID:22197487|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:26539716|PMID:27134495|PMID:28492532|PMID:33852188 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736966 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 3051 Slco2a1 solute carrier organic anion transporter family, member 2a1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736966 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 3052 Matr3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:7240710 20150521 OMIM 3052 Matr3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 PMID:17576681|PMID:19344878|PMID:24686783|PMID:25154462|PMID:25185957|PMID:25677933|PMID:25741868|PMID:25771394|PMID:25952333|PMID:26467025|PMID:26493020|PMID:26528920|PMID:26780671|PMID:28029397|PMID:28492532|PMID:29109432|PMID:30015619|PMID:30563574|PMID:31019288|PMID:32028661|PMID:9536098|PMID:9837826 3052 Matr3 matrin 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:736833 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 3052 Matr3 matrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3052 Matr3 matrin 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:736833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 3052 Matr3 matrin 3 gene DOID:11720 distal myopathy ISO RGD:736833 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type 3052 Matr3 matrin 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 3052 Matr3 matrin 3 gene DOID:630 genetic disease ISO RGD:736833 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3052 Matr3 matrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736833 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3052 Matr3 matrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3053 Esyt1 extended synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:733690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3054 Mbp myelin basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10884 D RGD:27226693|PMID:20399564 20200522 RGD 3054 Mbp myelin basic protein gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736262 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 3054 Mbp myelin basic protein gene DOID:0080695 Burn-McKeown syndrome ISO RGD:736262 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 3054 Mbp myelin basic protein gene DOID:12858 Huntington's disease IEP D RGD:7349325|PMID:21906685 20130919 RGD protein:decreased expression:brain: 3054 Mbp myelin basic protein gene DOID:13088 periventricular leukomalacia IEP D RGD:7327203|PMID:23614640 20130917 RGD protein:decreased expression:brain: 3054 Mbp myelin basic protein gene DOID:1459 hypothyroidism IEP D RGD:27226698|PMID:11592121 20200522 RGD 3054 Mbp myelin basic protein gene DOID:224 transient cerebral ischemia IEP D RGD:7349336|PMID:11460777 20130919 RGD mRNA:increased expression:oligodendrocyte: 3054 Mbp myelin basic protein gene DOID:2377 multiple sclerosis ISO RGD:736262 D RGD:1358488|PMID:1691612 19990101 RGD 3054 Mbp myelin basic protein gene DOID:3213 demyelinating disease IAGP D RGD:1358763|PMID:10212300 19990101 RGD DNA:insertion:intron (rat) 3054 Mbp myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:736262 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2580064 3054 Mbp myelin basic protein gene DOID:3328 temporal lobe epilepsy IEP D RGD:7327195|PMID:23727401 20130916 RGD protein:decreased expression:hippocampus: 3054 Mbp myelin basic protein gene DOID:5419 schizophrenia IEP D RGD:7349324|PMID:22750584 20130919 RGD protein:decreased expression:frontal cortex: 3054 Mbp myelin basic protein gene DOID:630 genetic disease ISO RGD:736262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3054 Mbp myelin basic protein gene DOID:6420 pulmonary valve stenosis ISO RGD:736262 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 3054 Mbp myelin basic protein gene DOID:6713 cerebrovascular disease ISO RGD:736262 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 3054 Mbp myelin basic protein gene DOID:8445 intestinal volvulus ISO RGD:736262 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 3054 Mbp myelin basic protein gene DOID:8869 neuromyelitis optica ISO RGD:736262 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 3054 Mbp myelin basic protein gene DOID:9000998 Brain Injuries IDA D RGD:7349333|PMID:18583256 20130919 RGD 3054 Mbp myelin basic protein gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:736262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 3054 Mbp myelin basic protein gene DOID:9001809 Urinary Retention ISO RGD:736262 D RGD:7349338|PMID:16680560 20130919 RGD associated with Meningitis;protein:increased expression:cerebrospinal fluid: 3054 Mbp myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:11501064|PMID:15159442|PMID:17884951|PMID:24070732 3054 Mbp myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:30296670|PMID:12811845 20200615 RGD human sequence peptide in a rat model; associated with Herpesviridae infections 3054 Mbp myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:7349334|PMID:16285900 20130919 RGD 3054 Mbp myelin basic protein gene DOID:9003420 Carbon Monoxide Poisoning IEP D RGD:7327205|PMID:23146304 20130917 RGD protein:decreased expression:brain: 3054 Mbp myelin basic protein gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:7327196|PMID:23715956 20130916 RGD protein:decreased expression:white matter: 3054 Mbp myelin basic protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736262 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3054 Mbp myelin basic protein gene DOID:9005372 Inflammation ISO RGD:736262 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 3054 Mbp myelin basic protein gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:7327197|PMID:23667870 20130916 RGD 3054 Mbp myelin basic protein gene DOID:9007553 neurotoxicity treatment IEP D RGD:213230154|PMID:33166664 20230323 RGD 3054 Mbp myelin basic protein gene DOID:9008419 Volvulus Of Midgut ISO RGD:736262 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 3054 Mbp myelin basic protein gene DOID:9588 encephalitis IEP D RGD:7327204|PMID:23245577 20130917 RGD associated with maternal Periapical Abscess;protein:decreased expression:brain: 3054 Mbp myelin basic protein gene DOID:9743 diabetic neuropathy IEP D RGD:7327194|PMID:23735240 20130916 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:sciatic nerve: 3055 Mbl1 mannose binding lectin 1 gene DOID:13378 Kawasaki disease ISO RGD:732763 D RGD:8693744|PMID:24721319 20140722 RGD 3055 Mbl1 mannose binding lectin 1 gene DOID:13564 aspergillosis susceptibility ISO RGD:732763 D RGD:8694071|PMID:20064561 20140723 RGD 3055 Mbl1 mannose binding lectin 1 gene DOID:8566 herpes simplex ISO RGD:732763 D RGD:8693727|PMID:15498041 20140721 RGD protein:increased expression:serum: 3055 Mbl1 mannose binding lectin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732763 D RGD:1582132|PMID:16982912 20061101 RGD 3055 Mbl1 mannose binding lectin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732763 D RGD:6903263|PMID:15509537 20120928 RGD protein:decreased expression:serum 3055 Mbl1 mannose binding lectin 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1582136|PMID:11560858 20061101 RGD 3055 Mbl1 mannose binding lectin 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:4889154|PMID:20216929 20101130 RGD 3055 Mbl1 mannose binding lectin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732763 D RGD:1582131|PMID:15972690 20061101 RGD 3055 Mbl1 mannose binding lectin 1 gene DOID:9970 obesity ISO RGD:732763 D RGD:4889156|PMID:16955210 20101130 RGD protein:decreased secretion:plasma (mouse) 3056 Mc3r melanocortin 3 receptor gene DOID:630 genetic disease ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3056 Mc3r melanocortin 3 receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484138|PMID:22183812 20120612 RGD mRNA:increased expression:liver (rat) 3056 Mc3r melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3056 Mc3r melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:1331525|PMID:15118671 19990101 GAD 3056 Mc3r melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:1625178|PMID:11889220 20070528 RGD DNA:point mutation:I183N 3056 Mc3r melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 9 | ClinVar Annotator: match by term: Obesity PMID:11889220|PMID:15276649|PMID:15292330|PMID:18231126|PMID:19091795|PMID:21047972|PMID:25741868|PMID:28492532 3056 Mc3r melanocortin 3 receptor gene DOID:9970 obesity susceptibility ISO RGD:1345990 D RGD:6484587|PMID:16123355 20120626 RGD DNA:missense mutations:cds:p.T6K, p.V81I (human) 3056 Mc3r melanocortin 3 receptor gene DOID:9970 obesity susceptibility ISO RGD:1345990 D RGD:7240710 20190502 OMIM 3057 Mc4r melanocortin 4 receptor gene DOID:0050572 cone-rod dystrophy ISO RGD:733058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:10903341|PMID:12499395|PMID:12690102|PMID:16507637|PMID:16611215|PMID:18559663|PMID:23791567|PMID:25741868|PMID:25741869|PMID:30004997 3057 Mc4r melanocortin 4 receptor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733058 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868 3057 Mc4r melanocortin 4 receptor gene DOID:0060842 isolated microphthalmia 3 ISO RGD:733058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 3057 Mc4r melanocortin 4 receptor gene DOID:0080547 non-alcoholic steatohepatitis ISS RGD:735526 D RGD:13592920 20200507 MouseDO 3057 Mc4r melanocortin 4 receptor gene DOID:0111988 immunodeficiency 12 ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 3057 Mc4r melanocortin 4 receptor gene DOID:11446 sciatic neuropathy IEP D RGD:6484557|PMID:21985621 20120625 RGD protein:increased expression:dorsal root ganglia (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:29273807|PMID:29311635 3057 Mc4r melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:1600750|PMID:12588803 20070326 RGD 3057 Mc4r melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:1600755|PMID:11443223 20070326 RGD 3057 Mc4r melanocortin 4 receptor gene DOID:2018 hyperinsulinism ISO RGD:733058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 3057 Mc4r melanocortin 4 receptor gene DOID:5419 schizophrenia ISO RGD:733058 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:10199800|PMID:10577903|PMID:12499395|PMID:12646665|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:29273807|PMID:29970488 3057 Mc4r melanocortin 4 receptor gene DOID:630 genetic disease ISO RGD:733058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3057 Mc4r melanocortin 4 receptor gene DOID:9002211 Hyperalgesia IEP D RGD:6484233|PMID:20081244 20120615 RGD protein:increased expression:dorsal root ganglia (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9002916 Hyperphagia ISO RGD:733058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 3057 Mc4r melanocortin 4 receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484138|PMID:22183812 20120612 RGD mRNA:increased expression:liver (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9005930 Endotoxemia IEP D RGD:6484214|PMID:21343543 20120613 RGD mRNA:increased expression:paraventricular nucleus (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9007001 Bradycardia IMP D RGD:13825242|PMID:24400148 20181130 RGD 3057 Mc4r melanocortin 4 receptor gene DOID:9007346 Cachexia ISO RGD:735526 D RGD:6484229|PMID:20371568 20120615 RGD associated with Myocardial Infarction 3057 Mc4r melanocortin 4 receptor gene DOID:9007633 Body Weight ISO RGD:733058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 3057 Mc4r melanocortin 4 receptor gene DOID:9007692 Insulin Resistance IMP D RGD:13825242|PMID:24400148 20210609 RGD DNA:nonsense mutation:cds:p.K314X (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:733058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18454146 3057 Mc4r melanocortin 4 receptor gene DOID:9008953 Binge-Eating Disorder ISO RGD:733058 D RGD:1600752|PMID:12646666 20070326 RGD 3057 Mc4r melanocortin 4 receptor gene DOID:9351 diabetes mellitus ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10078568|PMID:10199800|PMID:10592235|PMID:10903341|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12970296|PMID:14764812|PMID:14973783|PMID:15037865|PMID:154889963|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16094248|PMID:16274851|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:17286227|PMID:17306938|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17628007|PMID:17986382|PMID:18559663|PMID:19091795|PMID:19179454|PMID:20462274|PMID:22106157|PMID:22492873|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24611737|PMID:24890885|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27654141|PMID:28492532|PMID:29970488|PMID:31002796|PMID:9267995 3057 Mc4r melanocortin 4 receptor gene DOID:9452 fatty liver disease ISS RGD:735526 D RGD:13592920 20180518 MouseDO OMIM:228100 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity IEP D RGD:6484210|PMID:21779089 20120613 RGD mRNA:decreased expression:hypothalamus (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity IMP D RGD:13825242|PMID:24400148 20210609 RGD DNA:nonsense mutation:cds:p.K314X (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity IMP D RGD:6478803|PMID:21527895 20120612 RGD DNA:nonsense mutation:cds:p.K314X (rat) 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17143585|PMID:18454148|PMID:19079260|PMID:19079261|PMID:19151714|PMID:23251400 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:1331525|PMID:15118671 19990101 GAD 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:1600756|PMID:12646665 20070326 RGD 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28166811|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 3057 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:735526 D RGD:6484144|PMID:9019399 20120612 RGD 3058 Mc5r melanocortin 5 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732421 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 3058 Mc5r melanocortin 5 receptor gene DOID:1059 intellectual disability ISO RGD:732421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3058 Mc5r melanocortin 5 receptor gene DOID:630 genetic disease ISO RGD:732421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3058 Mc5r melanocortin 5 receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484138|PMID:22183812 20120612 RGD mRNA:increased expression:liver (rat) 3060 Mcm4 minichromosome maintenance complex component 4 gene DOID:0111961 immunodeficiency 26 ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 3060 Mcm4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:7240710 20130731 OMIM 3060 Mcm4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency PMID:16199547|PMID:16532402|PMID:17576681|PMID:22354167|PMID:22354170|PMID:22499342|PMID:24033266|PMID:25741868|PMID:26633542|PMID:28492532|PMID:9536098 3060 Mcm4 minichromosome maintenance complex component 4 gene DOID:10907 microcephaly ISO RGD:735578 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 3060 Mcm4 minichromosome maintenance complex component 4 gene DOID:630 genetic disease ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3061 Cd46 CD46 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 3061 Cd46 CD46 molecule gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1346662 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:25741868|PMID:28492532 3061 Cd46 CD46 molecule gene DOID:0080176 meningococcal meningitis ISO RGD:1346662 D RGD:6483466|PMID:12869763 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:11040768|PMID:20513133 20160719 RGD DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human) 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:11352768|PMID:17914026 20160719 RGD DNA:missense mutations:cds:p.R69W, p.A304V (human) 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:11352810|PMID:16353080 20160720 RGD protein:increased expression:peripheral blood mononuclear cell (human) 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14615110 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:10528197|PMID:14566051|PMID:14615110|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:29500241|PMID:29566171|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:11414356|PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30046676|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1346662 D RGD:11038684|PMID:20595690 20160719 RGD DNA:mutations:cds:multiple (human) 3061 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:7240710 20190502 OMIM 3061 Cd46 CD46 molecule gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346662 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30185663 3061 Cd46 CD46 molecule gene DOID:0080998 acute necrotizing pancreatitis severity IEP D RGD:1600479|PMID:16425382 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 3061 Cd46 CD46 molecule gene DOID:10591 pre-eclampsia no_association ISO RGD:1346662 D RGD:11352807|PMID:25710174 20160720 RGD DNA:missense mutation:cds:p.A304V (human) 3061 Cd46 CD46 molecule gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346662 D RGD:6483459|PMID:21445332 20120522 RGD DNA:missense mutation:cds:p.A304V (human) 3061 Cd46 CD46 molecule gene DOID:10871 age related macular degeneration ISS RGD:736683 D RGD:13592920 20180518 MouseDO 3061 Cd46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:11352767|PMID:14615110 20160719 RGD DNA:frameshift mutation:cds:p.N233X3 (human) 3061 Cd46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:11531138|PMID:16189652 20160829 RGD DNA:mutations:multiple (human) 3061 Cd46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:11352770|PMID:14566051 20160719 RGD DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) 3061 Cd46 CD46 molecule gene DOID:12849 autistic disorder ISO RGD:1346662 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3061 Cd46 CD46 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1346662 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3061 Cd46 CD46 molecule gene DOID:2377 multiple sclerosis ISO RGD:1346662 D RGD:6483460|PMID:21177319 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:2452 thrombophilia ISO RGD:1346662 D RGD:11352772|PMID:23042280 20160719 RGD mRNA, protein:increased expression:placenta (human) 3061 Cd46 CD46 molecule gene DOID:2773 contact dermatitis ISO RGD:1346662 D RGD:6483467|PMID:12055630 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:3459 breast carcinoma ISO RGD:1346662 D RGD:2293551|PMID:7532466 20080603 RGD 3061 Cd46 CD46 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:1346662 D RGD:2293547|PMID:15378282 20080603 RGD 3061 Cd46 CD46 molecule gene DOID:4450 renal cell carcinoma ISO RGD:1346662 D RGD:2293550|PMID:10744069 20080603 RGD 3061 Cd46 CD46 molecule gene DOID:557 kidney disease ISO RGD:1346662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 3061 Cd46 CD46 molecule gene DOID:557 kidney disease ISO RGD:736683 D RGD:6483464|PMID:17594162 20120522 RGD protein:increased expression:kidney 3061 Cd46 CD46 molecule gene DOID:589 congenital hemolytic anemia ISO RGD:1346662 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 3061 Cd46 CD46 molecule gene DOID:630 genetic disease ISO RGD:1346662 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3061 Cd46 CD46 molecule gene DOID:8622 measles ISO RGD:1346662 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8402913 3061 Cd46 CD46 molecule gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346662 D RGD:2293549|PMID:9358772 20090319 RGD protein:increased expression:uterine cervix 3061 Cd46 CD46 molecule gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:16199547|PMID:16621965|PMID:16762990|PMID:23431077|PMID:23519521|PMID:25741868|PMID:26559391|PMID:28492532|PMID:28752844|PMID:30046676|PMID:30676336 3061 Cd46 CD46 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1346662 D RGD:6483461|PMID:21852528 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346662 D RGD:2306066|PMID:15726105 20090319 RGD 3061 Cd46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346662 D RGD:2306067|PMID:12183422 20090319 RGD 3061 Cd46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1346662 D RGD:2306065|PMID:17214367 20090319 RGD 3061 Cd46 CD46 molecule gene DOID:9002834 Herpesviridae Infections ISO RGD:1346662 D RGD:6483463|PMID:19456309 20120522 RGD associated with Multiple Sclerosis 3061 Cd46 CD46 molecule gene DOID:9002884 Emphysema ISO RGD:1346662 D RGD:6483458|PMID:21573156 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346662 D RGD:2293549|PMID:9358772 20080603 RGD 3061 Cd46 CD46 molecule gene DOID:9003505 Venous Thromboembolism severity ISO RGD:1346662 D RGD:11352815|PMID:25684211 20160720 RGD protein:increased expression:plasma (human) 3061 Cd46 CD46 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3061 Cd46 CD46 molecule gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346662 D RGD:2293548|PMID:10637067 20080603 RGD 3061 Cd46 CD46 molecule gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346662 D RGD:6483457|PMID:22247341 20120522 RGD mRNA:increased expression:leukocyte (human) 3061 Cd46 CD46 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346662 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3061 Cd46 CD46 molecule gene DOID:934 viral infectious disease ISO RGD:1346662 D RGD:11352813|PMID:23376460 20160720 RGD protein:increased expression:monocyte (human) 3061 Cd46 CD46 molecule gene DOID:9470 bacterial meningitis ISO RGD:1346662 D RGD:6483465|PMID:16948860 20120522 RGD 3061 Cd46 CD46 molecule gene DOID:9538 multiple myeloma ISO RGD:1346662 D RGD:11352814|PMID:16728275 20160720 RGD protein:increased expression:plasma cell (human) 3061 Cd46 CD46 molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346662 D RGD:11352810|PMID:16353080 20160720 RGD protein:increased expression:peripheral blood mononuclear cell (human) 3065 Tpsb2 tryptase beta 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 3065 Tpsb2 tryptase beta 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348891 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 3065 Tpsb2 tryptase beta 2 gene DOID:1826 epilepsy ISO RGD:1348891 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 3065 Tpsb2 tryptase beta 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348891 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3065 Tpsb2 tryptase beta 2 gene DOID:630 genetic disease ISO RGD:1348891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3065 Tpsb2 tryptase beta 2 gene DOID:9000058 Keloid ISO RGD:1348891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605426 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:1826 epilepsy ISO RGD:1605426 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605426 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:2773 contact dermatitis ISO RGD:1605426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:630 genetic disease ISO RGD:1605426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:65 connective tissue disease ISO RGD:1605426 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:9003171 Primary Dysautonomias ISO RGD:1605426 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:9006202 Pruritus ISO RGD:1605426 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:9007763 Flushing ISO RGD:1605426 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 3066 Tpsab1 tryptase alpha/beta 1 gene DOID:9778 irritable bowel syndrome ISO RGD:1605426 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749843 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:737432 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:5812 MHC class II deficiency ISO RGD:737432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:630 genetic disease ISO RGD:737432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3069 Smcp sperm mitochondria-associated cysteine-rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737432 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3070 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:13580 cholestasis ISO RGD:737476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 3070 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737476 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3070 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:630 genetic disease ISO RGD:737476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3070 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 3072 Mdh1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:7240710 20200812 OMIM 3072 Mdh1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 3072 Mdh1 malate dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:732327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 3072 Mdh1 malate dehydrogenase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 3072 Mdh1 malate dehydrogenase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732327 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 3072 Mdh1 malate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:732327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3072 Mdh1 malate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3072 Mdh1 malate dehydrogenase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:732327 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 3072 Mdh1 malate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 3072 Mdh1 malate dehydrogenase 1 gene DOID:9008691 Liver Injury treatment IEP D RGD:13703104|PMID:24919044 20180801 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735716 D RGD:151361157|PMID:24762957 20220225 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735716 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:735716 D RGD:151361211|PMID:23516127 20220301 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:735716 D RGD:151361288|PMID:30300664 20220302 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:10534 stomach cancer ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:stomach (human) PMID:23116296|REF_RGD_ID:152995461 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:1059 intellectual disability ISO RGD:735716 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:2671 transitional cell carcinoma IEP D RGD:151361118|PMID:28339760 20220223 RGD protein:increased expression:bladder 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735716 D RGD:151361206|PMID:22110199 20220228 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735716 D RGD:152995443|PMID:24782339 20220622 RGD DNA:SNP:5'utr: (rs105929) (human) 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma sexual_dimorphism ISO RGD:735716 D RGD:152995442|PMID:25084765 20220622 RGD protein:increased expression:lung (human) 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735716 D RGD:151361151|PMID:19171406 20220225 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735716 D RGD:152995459|PMID:29179459 20220623 RGD mRNA:increased expression:stomach (human) 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:630 genetic disease ISO RGD:735716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735716 D RGD:151361278|PMID:19018776 20220302 RGD 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 3073 Slc3a2 solute carrier family 3 member 2 gene DOID:9006618 Liver Metastasis severity IEP D RGD:151361130|PMID:11745822 20220224 RGD associated with colon adenocarcinoma 3074 Me1 malic enzyme 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736133 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 3074 Me1 malic enzyme 1 gene DOID:0080600 COVID-19 ISO RGD:736133 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3074 Me1 malic enzyme 1 gene DOID:0111953 immunodeficiency 23 ISO RGD:736133 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 3074 Me1 malic enzyme 1 gene DOID:630 genetic disease ISO RGD:736133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3074 Me1 malic enzyme 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 3074 Me1 malic enzyme 1 gene DOID:9004657 Weight Gain ISO RGD:736133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 3074 Me1 malic enzyme 1 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:151361111|PMID:23794090 20220223 RGD mRNA:increased expression:right ventricle 3074 Me1 malic enzyme 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736133 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3074 Me1 malic enzyme 1 gene DOID:9970 obesity ISO RGD:736133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0050476 Barth syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349232 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:15351775|PMID:26605526|PMID:27247049|PMID:29618507|PMID:32043567 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060040 pervasive developmental disorder ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:10854091|PMID:11055898|PMID:11738883|PMID:12111643|PMID:12966523|PMID:16473305|PMID:16690727|PMID:16844334|PMID:17089071|PMID:17387578|PMID:19652677|PMID:19914908|PMID:20151026|PMID:21982064|PMID:23921973|PMID:25741868|PMID:26984561|PMID:27799067|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:22679399|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26347316|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26984561|PMID:27247049|PMID:27255190|PMID:27465203|PMID:27761913|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28257338|PMID:28394482|PMID:28492532|PMID:28831199|PMID:29141583|PMID:30405208|PMID:30564305|PMID:30788845|PMID:30868116|PMID:31690835|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9536098 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1349232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15689435|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16080119|PMID:16122633|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16966553|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17171659|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18678449|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22670143|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27255190|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28394482|PMID:28492532|PMID:28831199|PMID:29482495|PMID:29655203|PMID:29720203|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9546328 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20098342 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22923521|PMID:23220634|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18047645|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22659343|PMID:22679399|PMID:22923521|PMID:23220634|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31602196|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 3075 Mecp2 methyl CpG binding protein 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349232 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921286|PMID:20098342 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20151026|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:9038338 3075 Mecp2 methyl CpG binding protein 2 gene DOID:10907 microcephaly ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1349232 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:10767337|PMID:12384770|PMID:12566531|PMID:12872250|PMID:16763963|PMID:18414213|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:11162 respiratory failure ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 3075 Mecp2 methyl CpG binding protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 3075 Mecp2 methyl CpG binding protein 2 gene DOID:11832 visual epilepsy IEP D RGD:9587847|PMID:12123686 20141021 RGD mRNA:increased expression:dentate gyrus 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome IMP D RGD:11568037|PMID:27313794 20210325 RGD 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome IMP D RGD:12790974|PMID:18396005 20170223 RGD 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:14593183|PMID:16670375|PMID:17433737|PMID:19000991|PMID:19190538|PMID:19559301|PMID:19921286|PMID:20098342|PMID:21316312|PMID:21966470|PMID:22343140|PMID:22532851|PMID:23892605|PMID:26214522|PMID:28498846|PMID:28592917|PMID:33010341 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:1601318|PMID:16183801 20070416 RGD DNA:deletions:exons, introns, 3' utr:multiple (human) 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:1601319|PMID:11214906 20070416 RGD DNA:mutations:multiple (human) 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11022934|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524737|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12481990|PMID:12552569|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966522|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15241799|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689438|PMID:15691364|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15841480|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16630165|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16829352|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:16966553|PMID:17026625|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18678449|PMID:18688080|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21812101|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22001500|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23866855|PMID:23921973|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25590979|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28394482|PMID:28397838|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9536098|PMID:9546328 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:736671 D RGD:12743654|PMID:11242117 20170214 RGD 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1206 Rett syndrome susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 3075 Mecp2 methyl CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:11062717|PMID:15211631 20170214 RGD DNA:missense mutation, snps:cds, 3' utr:p.P376R, c.1638G>C, c.6809T>C (human) 3075 Mecp2 methyl CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15211631|PMID:18621663|PMID:19921286 3075 Mecp2 methyl CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9038338 3075 Mecp2 methyl CpG binding protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1349232 D RGD:7240710 20230517 OMIM 3075 Mecp2 methyl CpG binding protein 2 gene DOID:13628 favism ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1826 epilepsy ISO RGD:1349232 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1826 epilepsy ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10767337|PMID:10854091|PMID:11245712|PMID:11524741|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12615169|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18174559|PMID:19914908|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21954873|PMID:21982064|PMID:22277191|PMID:25741868|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:1932 Angelman syndrome ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11022934|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283202|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12655490|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16122633|PMID:16183801|PMID:16225173|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16905679|PMID:17089071|PMID:17101771|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:22561697|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25533962|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28492532|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31439979|PMID:32393352|PMID:32472557|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735 3075 Mecp2 methyl CpG binding protein 2 gene DOID:2030 anxiety disorder ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 3075 Mecp2 methyl CpG binding protein 2 gene DOID:2234 focal epilepsy ISO RGD:1349232 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:224 transient cerebral ischemia IEP D RGD:9587846|PMID:12421618 20141021 RGD mRNA:increased expression:hippocampus 3075 Mecp2 methyl CpG binding protein 2 gene DOID:2303 stereotypic movement disorder ISO RGD:1349232 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:15737703|PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:2846 bruxism ISO RGD:1349232 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Bruxism PMID:15737703|PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21435439 3075 Mecp2 methyl CpG binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1349232 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:20479760 3075 Mecp2 methyl CpG binding protein 2 gene DOID:607 paraplegia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 3075 Mecp2 methyl CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14986829|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16122633|PMID:16169931|PMID:16182490|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20384458|PMID:20405910|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21228398|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21695138|PMID:21764336|PMID:21831886|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26064184|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409 3075 Mecp2 methyl CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28394482|PMID:28465761|PMID:28492532|PMID:28498846|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 3075 Mecp2 methyl CpG binding protein 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:2289670|PMID:11844796 20170113 RGD mRNA, protein:increased expression:liver 3075 Mecp2 methyl CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 3075 Mecp2 methyl CpG binding protein 2 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:1349232 D RGD:12790976|PMID:22331013 20170223 RGD associated with Rett Syndrome;DNA:mutations:multiple (human) 3075 Mecp2 methyl CpG binding protein 2 gene DOID:8927 learning disability ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1349232 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:10508514|PMID:10854091|PMID:11035019|PMID:11055898|PMID:11269512|PMID:11283202|PMID:11313756|PMID:11524741|PMID:11738883|PMID:12180070|PMID:15737703|PMID:17089071|PMID:17387578|PMID:19914908|PMID:25741868|PMID:25927341|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1349232 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9002211 Hyperalgesia ISO RGD:1349232 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33010341 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9588242|PMID:16380407 20141023 RGD mRNA,protein:decreased expression:hippocampus: 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349232 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10767337|PMID:10991688|PMID:11007980|PMID:11055848|PMID:11055898|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:14649554|PMID:15057977|PMID:16473305|PMID:18414213|PMID:20301670|PMID:21831886|PMID:23696494|PMID:23770565|PMID:23921973|PMID:24328834|PMID:24511209|PMID:24970834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9004536 Rett Syndrome, Zappella Variant ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome, zappella variant PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10852707|PMID:10854091|PMID:10991688|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16122633|PMID:16473305|PMID:16690727|PMID:16763963|PMID:16844334|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17341617|PMID:17387578|PMID:17986102|PMID:18332345|PMID:18414213|PMID:18562141|PMID:18989701|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25741868|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26842955|PMID:26984561|PMID:27799067|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29655203|PMID:30536762|PMID:32472557|PMID:34324427|PMID:4413922 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005616 Micrognathism ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711185 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders treatment IMP D RGD:12789445|PMID:20711185 20170214 RGD 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1349232 D RGD:1601320|PMID:11309367 20070416 RGD DNA:missense mutations:cds:p.E137G, p.R167W (human) 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349232 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:28592917|PMID:33010341 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12111643|PMID:12180070|PMID:12325033|PMID:1241840|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16763963|PMID:16905679|PMID:17089071|PMID:17236109|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21420494|PMID:21575601|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26467025|PMID:26647311|PMID:28135719|PMID:28492532|PMID:30564305|PMID:30868116|PMID:8177735 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9007722 Myoclonus ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1349232 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738860|PMID:11738864|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11913567|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12746405|PMID:12872250|PMID:12872251|PMID:14536082|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:17089071|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18334558|PMID:18652533|PMID:19722030|PMID:20031356|PMID:20301670|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21695138|PMID:21982064|PMID:22277191|PMID:23238081|PMID:23262346|PMID:23270700|PMID:24283265|PMID:24399845|PMID:24511209|PMID:24626160|PMID:25167861|PMID:25541993|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34008892 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098342 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9008689 Facial Hypertrichosis ISO RGD:1349232 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Facial hypertrichosis PMID:32581362 3075 Mecp2 methyl CpG binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 3078 Men1 menin 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenocortical adenoma PMID:10647896 3078 Men1 menin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19847644 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:1581203|PMID:16840830 19990101 RGD 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:1601326|PMID:11295574 20070416 RGD 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:1601327|PMID:9215690 20070416 RGD 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317303|PMID:18549467 20100326 RGD DNA:mutations, polymorphism:exons 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317313|PMID:18300794 20100326 RGD associated with Pituitary Neoplasm; DNA:mutations: :multiple 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317314|PMID:18045958 20100326 RGD DNA, protein:mutations, loss of heterozygosity, decreased expression: : 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317327|PMID:17953629 20100326 RGD 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317331|PMID:17854391 20100326 RGD DNA:deletions:exons 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317334|PMID:17766710 20100326 RGD DNA:mutations: : 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317335|PMID:17623761 20100326 RGD DNA:mutations: : 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:2317347|PMID:16563611 20100329 RGD DNA:mutations:multiple sites: 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:7240710 20130221 OMIM 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395230|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10664521|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11034102|PMID:11102994|PMID:11134142|PMID:11181266|PMID:11216636|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11435815|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12016472|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14648742|PMID:14678300|PMID:14686752|PMID:14985373|PMID:15044367|PMID:15082967|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15713725|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16594911|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17185897|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19174080|PMID:19350320|PMID:19350420|PMID:19391077|PMID:19461164|PMID:19491073|PMID:19509103|PMID:19749796|PMID:19953642|PMID:20231234|PMID:20367983|PMID:20404349|PMID:20530095|PMID:20639902|PMID:20660572|PMID:20833329|PMID:20960638|PMID:21069576|PMID:21127195|PMID:21264250|PMID:21266030|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21454242|PMID:21464564|PMID:21521296|PMID:21627674|PMID:21652691|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21915802|PMID:21916912|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22281890|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23188049|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23580576|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24443791|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24756045|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309600|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26224587|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:27904855|PMID:28203045|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28458907|PMID:28492532|PMID:28503312|PMID:2857681|PMID:28597079|PMID:28663159|PMID:28693130|PMID:28736585|PMID:28818680|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29066490|PMID:29097378|PMID:29122330|PMID:29174091|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29455199|PMID:29497973|PMID:29641532|PMID:29848728|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30374176|PMID:30630164|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:31658439|PMID:31737856|PMID:32130200|PMID:32190804|PMID:32299109|PMID:32761341|PMID:32901291|PMID:32909176|PMID:33101196|PMID:33125695|PMID:33471991|PMID:33632163|PMID:33840689|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35407574|PMID:35941657|PMID:564891|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9564891|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9792884|PMID:9820618|PMID:9832038|PMID:9843042|PMID:9888389|PMID:9893679|PMID:9929977|PMID:9935177|PMID:9989505 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 disease_progression ISO RGD:736444 D RGD:2317293|PMID:19620250 20100325 RGD DNA:deletion:exons 3078 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 no_association IDA D RGD:619590|PMID:12036912 20100330 RGD 3078 Men1 menin 1 gene DOID:10579 leukodystrophy ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 3078 Men1 menin 1 gene DOID:1059 intellectual disability ISO RGD:736443 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3078 Men1 menin 1 gene DOID:11202 primary hyperparathyroidism ISO RGD:736443 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:18775714|PMID:22703879|PMID:24997771|PMID:25741868|PMID:26467025|PMID:28492532|PMID:564891|PMID:9215689 3078 Men1 menin 1 gene DOID:11714 gestational diabetes ISO RGD:736444 D RGD:2317319|PMID:17975067 20100326 RGD 3078 Men1 menin 1 gene DOID:13543 hyperparathyroidism ISO RGD:736443 D RGD:2317347|PMID:16563611 20100329 RGD DNA:SNPs: :multiple 3078 Men1 menin 1 gene DOID:13543 hyperparathyroidism ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10715991|PMID:10759881|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10993647|PMID:11369988|PMID:11524904|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12150335|PMID:12166655|PMID:12324758|PMID:12652570|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15464422|PMID:15635078|PMID:15670192|PMID:15754732|PMID:15887103|PMID:16322378|PMID:16563611|PMID:16595707|PMID:16699310|PMID:17065424|PMID:17235589|PMID:17555499|PMID:17590169|PMID:17623761|PMID:17879353|PMID:17953629|PMID:18221402|PMID:18549467|PMID:20833329|PMID:21521296|PMID:21819486|PMID:21849858|PMID:22024364|PMID:22187299|PMID:22703879|PMID:23093699|PMID:23321498|PMID:23334809|PMID:23933118|PMID:24033266|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26767918|PMID:27153395|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30630164|PMID:30755392|PMID:30820182|PMID:30869828|PMID:31431315|PMID:31737856|PMID:32130200|PMID:32761341|PMID:33471991|PMID:34313384|PMID:34939938|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 3078 Men1 menin 1 gene DOID:13543 hyperparathyroidism ISS RGD:736444 D RGD:13592920 20180518 MouseDO OMIM:145000 | OMIM:145001 | OMIM:610071 3078 Men1 menin 1 gene DOID:169 neuroendocrine tumor ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 3078 Men1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961653|PMID:21252315 3078 Men1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:2317340|PMID:17278096 20100326 RGD associated with Neuroendocrine Tumors; protein:increased expression:multiple organs 3078 Men1 menin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 3078 Men1 menin 1 gene DOID:2394 ovarian cancer ISO RGD:736443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16563611|PMID:21819486|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 3078 Men1 menin 1 gene DOID:2746 glycogen storage disease V ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 3078 Men1 menin 1 gene DOID:3070 high grade glioma ISO RGD:736443 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 3078 Men1 menin 1 gene DOID:3125 multiple endocrine neoplasia ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10027401|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10664520|PMID:10715991|PMID:10759881|PMID:10762295|PMID:10856877|PMID:10870030|PMID:11369988|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11807402|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16449969|PMID:16595707|PMID:16699310|PMID:17235589|PMID:17590169|PMID:17623761|PMID:17853334|PMID:17953629|PMID:18221402|PMID:21521296|PMID:21819486|PMID:22470073|PMID:22666734|PMID:22703879|PMID:23334809|PMID:24218143|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27846313|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30869828|PMID:31737856|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 3078 Men1 menin 1 gene DOID:3315 lipoma ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipoma, somatic PMID:10576763|PMID:10594843|PMID:10664520|PMID:10856877|PMID:12112656|PMID:14641000|PMID:15635078|PMID:17065424|PMID:17623761|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:20833329|PMID:23093699|PMID:24033266|PMID:24599222|PMID:24915123|PMID:25309785|PMID:25741868|PMID:26467025|PMID:27572829|PMID:28492532|PMID:28870973|PMID:28968916|PMID:29036195|PMID:30324798|PMID:30795813|PMID:9103196|PMID:9215690|PMID:9463336|PMID:9498491|PMID:9671267|PMID:9683585 3078 Men1 menin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736443 D RGD:2317294|PMID:19170121 20100325 RGD protein:decreased expression:pancreas 3078 Men1 menin 1 gene DOID:3892 insulinoma ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 3078 Men1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:2317288|PMID:20138042 20100325 RGD DNA:deletion:exon 3078 Men1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:2317310|PMID:19208834 20100326 RGD DNA:deletions:exons 3078 Men1 menin 1 gene DOID:3892 insulinoma disease_progression ISO RGD:736444 D RGD:2317292|PMID:12941803 20100325 RGD DNA:deletion:exon 3078 Men1 menin 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 3078 Men1 menin 1 gene DOID:5394 prolactinoma ISS RGD:736444 D RGD:13592920 20180518 MouseDO OMIM:600634 3078 Men1 menin 1 gene DOID:5574 vipoma ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 3078 Men1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 3078 Men1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:2317354|PMID:15944766 20100330 RGD DNA:mutations: : 3078 Men1 menin 1 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736443 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:30630164 3078 Men1 menin 1 gene DOID:6255 growth hormone secreting pituitary adenoma ISS RGD:736444 D RGD:13592920 20180518 MouseDO OMIM:102200 3078 Men1 menin 1 gene DOID:630 genetic disease ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3078 Men1 menin 1 gene DOID:657 adenoma ISO RGD:736444 D RGD:2317273|PMID:12917331 20100325 RGD DNA:deletion:exons 3078 Men1 menin 1 gene DOID:7608 parathyroid adenoma ISO RGD:736443 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12016472|PMID:20231234|PMID:28492532|PMID:9241276|PMID:9820618 3078 Men1 menin 1 gene DOID:769 neuroblastoma ISO RGD:736443 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 3078 Men1 menin 1 gene DOID:7959 duodenal gastrinoma ISO RGD:736443 D RGD:2317341|PMID:17135306 20100326 RGD associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : 3078 Men1 menin 1 gene DOID:9000915 Angiofibroma ISO RGD:736443 D RGD:8554872 20160906 ClinVar ClinVar Annotator: match by term: Angiofibroma, somatic PMID:9236523|PMID:9740255 3078 Men1 menin 1 gene DOID:9002211 Hyperalgesia IEP D RGD:9589142|PMID:20369282 20141110 RGD associated with Sciatic Neuropathy;protein:increased expression:spinal cord dorsal horn (rat) 3078 Men1 menin 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736443 D RGD:2317360|PMID:12030908 20100330 RGD DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland 3078 Men1 menin 1 gene DOID:9002928 Colonic Neoplasms severity IMP D RGD:1304318|PMID:15054094 20141107 RGD 3078 Men1 menin 1 gene DOID:9006608 Lung Carcinoid Tumors ISO RGD:736443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung carcinoid tumor PMID:11303512|PMID:11579199|PMID:12112656|PMID:12213668|PMID:15240620|PMID:15635078|PMID:15670192|PMID:17065424|PMID:17853334|PMID:17879353|PMID:19041010|PMID:21340156|PMID:22470073|PMID:23321498|PMID:24915123|PMID:25291050|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:9215689|PMID:9361035|PMID:9463336 3078 Men1 menin 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:15292357|PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10439966|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753103|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28881068|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29239255|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9935177|PMID:9989505 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:33471991|PMID:34313384|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9888389|PMID:9935177|PMID:9989505 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10534569|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18549467|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28238068|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:32901291|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585 3078 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 3078 Men1 menin 1 gene DOID:9007787 Carcinoid Tumor ISO RGD:736443 D RGD:2317351|PMID:16465412 20100330 RGD DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) 3078 Men1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 3078 Men1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736444 D RGD:2317288|PMID:20138042 20100325 RGD DNA:deletion:exon 3078 Men1 menin 1 gene DOID:9008605 Hyperparathyroidism 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 3078 Men1 menin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736443 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25741868 3079 Meox2 mesenchyme homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733480 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3079 Meox2 mesenchyme homeobox 2 gene DOID:5844 myocardial infarction IEP D RGD:155882536|PMID:24155330 20230126 RGD protein:decreased expression:heart (rat) 3079 Meox2 mesenchyme homeobox 2 gene DOID:630 genetic disease ISO RGD:733480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3079 Meox2 mesenchyme homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3079 Meox2 mesenchyme homeobox 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3080 Mep1a meprin A subunit alpha gene DOID:630 genetic disease ISO RGD:735747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3080 Mep1a meprin A subunit alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:735747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3081 Mep1b meprin A subunit beta gene DOID:1059 intellectual disability ISO RGD:737385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3081 Mep1b meprin A subunit beta gene DOID:630 genetic disease ISO RGD:737385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050127 sinusitis ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050563 nonsyndromic deafness ISO RGD:70824 D RGD:8554872 20150818 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PMID:25941349 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70824 D RGD:8548612|PMID:20848408 20140313 RGD protein:increased expression:tongue: 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70824 D RGD:8548617|PMID:20662906 20140313 RGD protein:increased expression, altered expression:mouth mucosa: 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:70824 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0070322 childhood hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20210504 ClinVar ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma PMID:17483355|PMID:9927037 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:10894 D RGD:14694829|PMID:24845607 20190617 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:26833332|PMID:28492532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:7240710 20160113 OMIM 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:25941349|PMID:26467025|PMID:27696107|PMID:28259294|PMID:28492532|PMID:29641532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive PMID:25741868|PMID:28492532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:30777867 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:30777867 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70824 D RGD:2317554|PMID:7639332 20100409 RGD protein:increased expression:primary tumor, metastatic carcinoma (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:22703879|PMID:25741868|PMID:28492532|PMID:9140397 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:11119 Gilles de la Tourette syndrome ISS RGD:10894 D RGD:13592920 20180518 MouseDO OMIM:137580 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1115 sarcoma ISO RGD:70824 D RGD:2317532|PMID:7693339 20100408 RGD protein:increased expression:tumor (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:11714 gestational diabetes ISS RGD:10894 D RGD:13592920 20180518 MouseDO 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:12236 primary biliary cholangitis severity ISO RGD:10894 D RGD:14694826|PMID:19208365 20190617 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17053076|PMID:21328570 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:70824 D RGD:1600124|PMID:17053076 20070228 RGD AUTS1, OMIM:608636 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:70824 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 9 PMID:17053076 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10417759|PMID:10433944|PMID:1104268|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:16189274|PMID:17483355|PMID:18564920|PMID:20670955|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28619094|PMID:29202410|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9826708|PMID:9927037 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1561 cognitive disorder ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1612 breast cancer ISS RGD:10894 D RGD:13592920 20220811 MouseDO OMIM:114480 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22948846 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:70824 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer IEP D RGD:2317613|PMID:9211490 20100413 RGD protein:increased expression:pancreas (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:70824 D RGD:5490965|PMID:19506583 20110921 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer severity ISO RGD:70824 D RGD:2317235|PMID:15448002 20100412 RGD mRNA:increased expression:pancreas (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:70824 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:2349 arteriosclerosis ISO RGD:70824 D RGD:2317493|PMID:17405187 20100407 RGD protein:increased expression:femoral artery, atherosclerotic lesions (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:70824 D RGD:2317612|PMID:8077049 20100413 RGD protein:increased expression:epithelial carcinoma (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28873162 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:22042947 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:70824 D RGD:2317607|PMID:10590366 20100413 RGD protein:increased expression:tumor (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3021 acute kidney failure IEP D RGD:2317469|PMID:17940345 20100406 RGD protein:increased expression:renal parenchyma (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:305 carcinoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20661229 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:305 carcinoma ISO RGD:70824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:15485908|PMID:17483355|PMID:21400509|PMID:21642981|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23610116|PMID:23806086|PMID:24088041|PMID:24121490|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:29202410|PMID:32934698|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3068 glioblastoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22162573 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3069 malignant astrocytoma ISO RGD:70824 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3070 high grade glioma IEP D RGD:2317467|PMID:18194445 20100406 RGD protein:increased expression:brain, glioma (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3347 osteosarcoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3459 breast carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:21774103|PMID:21970370|PMID:25741868|PMID:28259294|PMID:28492532|PMID:29641532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70824 D RGD:2317530|PMID:7866999 20100408 RGD protein:increased expression:pancreatic duct (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3905 lung carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:26637977|PMID:26892698 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:70824 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21623265|PMID:21815704|PMID:22787409|PMID:24688052 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:5133241|PMID:20519133 20110608 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:5133242|PMID:20951313 20110608 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:5133243|PMID:21277552 20110608 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:70824 D RGD:13434906|PMID:24092988 20171004 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:1600122|PMID:9140397 20070228 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33588785|PMID:33606809|PMID:34646395|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4451 renal carcinoma ISO RGD:70824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:10327054|PMID:10433944|PMID:11354004|PMID:11750879|PMID:15485908|PMID:17483355|PMID:18829470|PMID:21400509|PMID:21642981|PMID:23213094|PMID:23610116|PMID:24121490|PMID:25157968|PMID:28492532|PMID:29202410|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:7240710 20180919 OMIM 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4552 large cell carcinoma severity ISO RGD:70824 D RGD:2317441|PMID:20019837 20100406 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70824 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression IEP D RGD:2317601|PMID:14656942 20100412 RGD protein:increased expression:liver, biliary epithelium (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:70824 D RGD:2317578|PMID:16818635 20100412 RGD protein:increased phosphorylation:liver, carcinoma (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4977 lymphedema ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lymphoedema PMID:18564920|PMID:24339735|PMID:24728327|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30530636 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4989 pancreatitis IEP D RGD:2317606|PMID:11737224 20100413 RGD mRNA:increased expression:pancreas (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:5577 gastrinoma severity ISO RGD:70824 D RGD:2317605|PMID:12114431 20100413 RGD associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma IEP D RGD:2317495|PMID:17311762 20100407 RGD protein:increased expression:liver (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:10894 D RGD:152995524|PMID:29303510 20220628 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:1600123|PMID:9927037 20070228 RGD 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:2317575|PMID:17154373 20100412 RGD mRNA:increased expression:liver, carcinoma (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:7240710 20130619 OMIM 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:14559814|PMID:15735036|PMID:16189274|PMID:17483355|PMID:18564920|PMID:19318576|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26718692|PMID:27153395|PMID:28259294|PMID:28492532|PMID:28619094|PMID:29641532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:70824 D RGD:152995524|PMID:29303510 20220628 RGD protein:increased expression:liver (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:687 hepatoblastoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:27666373|PMID:28492532 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16051641 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:70824 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:824 periodontitis IEP D RGD:2317520|PMID:16827730 20100408 RGD mRNA, protein:increased expression:gingival pocket (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:8567 Hodgkin's lymphoma ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:70824 D RGD:2317582|PMID:19956499 20100412 RGD protein:increased expression:gallbladder (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2317487|PMID:17549731 20100407 RGD mRNA, protein:increased expression:spinal cord (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:70824 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22042947|PMID:22729845 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000722 Animal Hepatitis IEP D RGD:2317559|PMID:8781331 20100409 RGD mRNA:increased expression:liver (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20080979|PMID:21225626 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:70824 D RGD:8548616|PMID:22704061 20140313 RGD associated with Squamous Cell Carcinoma of the Tongue; 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9001472 Nasal Polyps ISO RGD:70824 D RGD:8548613|PMID:16982975 20140313 RGD mRNA,protein:increased expression:nasal cavity mucosa: 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2317516|PMID:16958060 20100408 RGD protein:decreased expression:liver (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:7240710 20230505 OMIM 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum PMID:11042681|PMID:1270474|PMID:12920089|PMID:14559814|PMID:15592501|PMID:16203897|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26637977|PMID:28259294|PMID:28492532|PMID:28975465|PMID:29641532|PMID:32830346|PMID:9234973 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:7240710 20220831 OMIM 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 PMID:30777867 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:70824 D RGD:1600122|PMID:9140397 20100408 RGD DNA:missense mutations:cds:multiple (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70824 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20661229 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:70824 D RGD:2317585|PMID:15892172 20100412 RGD protein:increased expression:intrahepatic bile duct (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9003936 Cardiomegaly IEP D RGD:2317547|PMID:10489112 20100409 RGD protein:increased expression:ventricle (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury IEP D RGD:2317505|PMID:17113948 20100407 RGD mRNA:increased expression:retina (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:70824 D RGD:2317564|PMID:9308731 20100409 RGD protein:increased expression:tumor (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure IEP D RGD:2317515|PMID:17009398 20100408 RGD mRNA:increased expression:liver (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20934974 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9005369 Hepatomegaly ISO RGD:70824 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2317555|PMID:8997394 20100409 RGD mRNA, protein:increased expression:kidney, tubule, epithelium (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006205 Animal Disease Models ISO RGD:70824 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70824 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26833332|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:29324814|PMID:29641532|PMID:30093976|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:70824 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007715 Endometrial Neoplasms IAGP D RGD:70557|PMID:11719459 20070228 RGD DNA:amplification 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:70824 D RGD:2317574|PMID:18208800 20100412 RGD protein:increased expression:pancreas, liver, epithelium (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:70824 D RGD:2317534|PMID:9815967 20100408 RGD mRNA, protein:increased expression:colon mucosa (human) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis severity ISO RGD:70824 D RGD:14694827|PMID:8778194 20190617 RGD mRNA:increased expression:liver 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:70824 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:916 liver benign neoplasm onset IEP D RGD:2317546|PMID:11956651 20100409 RGD mRNA, protein:increased expression:neoplastic liver (rat) 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:70824 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9452 fatty liver disease ISO RGD:70824 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 3082 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9538 multiple myeloma ISO RGD:70824 D RGD:2317526|PMID:11830493 20100408 RGD 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:736002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:13375 temporal arteritis ISO RGD:736002 D RGD:1582497|PMID:11748647 20061110 RGD 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:2717 Bloom syndrome ISO RGD:736002 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:630 genetic disease ISO RGD:736002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21505870 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9008939 Breast Neoplasms ISO RGD:736002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127199 3083 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9256 colorectal cancer ISO RGD:736002 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3084 Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3084 Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1343088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3086 Kitlg KIT ligand gene DOID:0050777 Joubert syndrome ISO RGD:737118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 3086 Kitlg KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:7240710 20160113 OMIM 3086 Kitlg KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric PMID:25741868|PMID:26522471 3086 Kitlg KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:7240710 20130731 OMIM 3086 Kitlg KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive PMID:15040480|PMID:15551335|PMID:19375057|PMID:21368769|PMID:24033266|PMID:25741868|PMID:28492532 3086 Kitlg KIT ligand gene DOID:1749 squamous cell carcinoma ISO RGD:12410173 D RGD:9068941 20230427 OMIA Squamous cell carcinoma of the digit PMID:1399782|PMID:16231717|PMID:17609360|PMID:23555311|PMID:24936030|PMID:26699508|PMID:2800263|PMID:36851392|PMID:36851451|PMID:6354679|PMID:6731733|PMID:7657570 3086 Kitlg KIT ligand gene DOID:305 carcinoma ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3086 Kitlg KIT ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737118 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 3086 Kitlg KIT ligand gene DOID:3663 cutaneous mastocytosis ISO RGD:737119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20559008 3086 Kitlg KIT ligand gene DOID:630 genetic disease ISO RGD:737118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3086 Kitlg KIT ligand gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3086 Kitlg KIT ligand gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 3086 Kitlg KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:7240710 20220720 OMIM 3086 Kitlg KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome, type 2F PMID:28504826|PMID:35543077 3086 Kitlg KIT ligand gene DOID:9001472 Nasal Polyps ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15813808 3086 Kitlg KIT ligand gene DOID:9001581 Constipation IEP D RGD:152025536|PMID:33792838 20220504 RGD mRNA, protein:decreased expression:colon 3086 Kitlg KIT ligand gene DOID:9002566 Gastric Reperfusion Injury IEP D RGD:12911222|PMID:20040059 20170710 RGD mRNA:decreased expression:stomach: 3086 Kitlg KIT ligand gene DOID:9004207 Testicular Neoplasms ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 3086 Kitlg KIT ligand gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3086 Kitlg KIT ligand gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1720698 3086 Kitlg KIT ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:737118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3086 Kitlg KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:7240710 20221207 OMIM 3086 Kitlg KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN PMID:17952075|PMID:18083106|PMID:24880339 3086 Kitlg KIT ligand gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737119 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12594235 3086 Kitlg KIT ligand gene DOID:9970 obesity ISO RGD:737119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:0060071 pre-malignant neoplasm ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:735904 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:735904 D RGD:2317672|PMID:15885889 20100415 RGD DNA:polymorphisms:cds:p.L53L, p.L84F (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1240 leukemia ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16412662 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:12859 choreatic disease ISO RGD:735904 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer severity ISO RGD:735904 D RGD:2317691|PMID:15741301 20100416 RGD protein:decreased expression:tumor (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:735904 D RGD:2317675|PMID:16014702 20100415 RGD DNA:polymorphisms:cds:p.L84F, p.I143V (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1793 pancreatic cancer ISO RGD:735904 D RGD:2317628|PMID:19118063 20100413 RGD protein:decreased expression:neuroendocrine tumor (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:735904 D RGD:2317661|PMID:14501508 20100415 RGD DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1909 melanoma IEP D RGD:2316960|PMID:20182810 20100305 RGD protein:increased activity:skin tumor (rat) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:234 colon adenocarcinoma IEP D RGD:1599637|PMID:16886601 20100305 RGD mRNA:decreased expression:colon (rat) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:2893 cervix carcinoma ISO RGD:735904 D RGD:2317690|PMID:17234722 20100416 RGD DNA:polymorphisms:cds:p.I143V, p.K178R (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:2999 granulosa cell tumor ISO RGD:735904 D RGD:2317693|PMID:14970867 20100416 RGD DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20131314|PMID:22162573 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:2317667|PMID:14669534 20100415 RGD DNA:transition:cds:p.L84F (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3070 high grade glioma ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033832|PMID:16899598|PMID:19901110 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3181 oligodendroglioma ISO RGD:735904 D RGD:2317688|PMID:15455350 20100416 RGD DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735904 D RGD:2317664|PMID:9393761 20100415 RGD protein:increased activity, increased expression:ductal adenocarcinoma (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma susceptibility ISO RGD:735904 D RGD:2317648|PMID:16844323 20100414 RGD DNA:missense mutation:cds:p.L84F rs12917 (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735904 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25520135 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735904 D RGD:126790574|PMID:21674174 20210427 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:4947 cholangiocarcinoma ISO RGD:735904 D RGD:2317632|PMID:17550320 20100413 RGD DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735904 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:5577 gastrinoma ISO RGD:735904 D RGD:2317340|PMID:17278096 20100414 RGD DNA:hypomethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:630 genetic disease ISO RGD:735904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:768 retinoblastoma disease_progression ISO RGD:735904 D RGD:2317684|PMID:15799820 20100416 RGD DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:735904 D RGD:2317637|PMID:18158568 20100414 RGD protein:decreased expression:tumor (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms resistance ISO RGD:735904 D RGD:2317636|PMID:18708406 20100414 RGD DNA:transition:exon:EX5-25C>T rs12917 (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9002801 Recurrence ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9002936 Bile Duct Neoplasms severity ISO RGD:735904 D RGD:2317662|PMID:11986189 20100415 RGD protein:decreased expression:carcinoma of extrahepatic bile duct (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9004207 Testicular Neoplasms ISO RGD:735904 D RGD:2317686|PMID:12483540 20100416 RGD DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9005749 Necrosis ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21619552 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:2317681|PMID:19274096 20100416 RGD associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human) 3087 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007787 Carcinoid Tumor ISO RGD:735904 D RGD:2317635|PMID:12584572 20100414 RGD DNA:hypermethylation:promoter (human) 3088 Mgp matrix Gla protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 3088 Mgp matrix Gla protein gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737291 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:19350115 3088 Mgp matrix Gla protein gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 3088 Mgp matrix Gla protein gene DOID:10286 prostate carcinoma ISO RGD:737291 D RGD:2293578|PMID:1399132 20080605 RGD 3088 Mgp matrix Gla protein gene DOID:182 calcinosis ISO RGD:737291 D RGD:1582501|PMID:15045141 20061111 RGD 3088 Mgp matrix Gla protein gene DOID:2349 arteriosclerosis ISO RGD:737291 D RGD:1582504|PMID:8200973 20061111 RGD 3088 Mgp matrix Gla protein gene DOID:305 carcinoma ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3088 Mgp matrix Gla protein gene DOID:3304 germinoma ISO RGD:737291 D RGD:2293578|PMID:1399132 20080605 RGD 3088 Mgp matrix Gla protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737291 D RGD:2293578|PMID:1399132 20080605 RGD 3088 Mgp matrix Gla protein gene DOID:4676 uremia ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 3088 Mgp matrix Gla protein gene DOID:5844 myocardial infarction susceptibility ISO RGD:737291 D RGD:1582503|PMID:11073842 20061111 RGD 3088 Mgp matrix Gla protein gene DOID:799 varicose veins ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 3088 Mgp matrix Gla protein gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737291 D RGD:2293584|PMID:17960611 20090319 RGD 3088 Mgp matrix Gla protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3088 Mgp matrix Gla protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737291 D RGD:1582502|PMID:16973975 20061111 RGD 3088 Mgp matrix Gla protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3088 Mgp matrix Gla protein gene DOID:9002315 Kidney Calculi IDA D RGD:1582511|PMID:10460895 20061111 RGD 3088 Mgp matrix Gla protein gene DOID:9002762 Ovarian Neoplasms ISO RGD:737291 D RGD:2293586|PMID:11358798 20080605 RGD 3088 Mgp matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21705322 3088 Mgp matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:1600783|PMID:9916809 20070327 RGD DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human) 3088 Mgp matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:7240710 20130221 OMIM 3088 Mgp matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keutel syndrome PMID:15810001|PMID:25741868|PMID:28492532|PMID:9916809 3088 Mgp matrix Gla protein gene DOID:9003281 Spontaneous Abortions ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3088 Mgp matrix Gla protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737291 D RGD:9068941 20200609 RGD protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas PMID:17960611|REF_RGD_ID:2293584 3088 Mgp matrix Gla protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3088 Mgp matrix Gla protein gene DOID:9006332 Vascular Calcification ISO RGD:737291 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21705322 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733356 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:7240710 20211006 OMIM 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 PMID:25741868|PMID:33168985|PMID:33257696 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:2891 thyroid adenoma ISO RGD:733356 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Thyroid adenoma PMID:11297621 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:37 skin disease ISO RGD:733356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:733356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733356 D RGD:737769|PMID:11297621 19990101 RGD 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:7240710 20130221 OMIM 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:11297621 3089 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:733356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3090 Mip major intrinsic protein of lens fiber gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 3090 Mip major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:7240710 20150701 OMIM 3090 Mip major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:10802646|PMID:10937580|PMID:16199547|PMID:16564824|PMID:17576681|PMID:18501347|PMID:20361015|PMID:21921980|PMID:24120416|PMID:24319327|PMID:24405844|PMID:25741868|PMID:25803033|PMID:26694549|PMID:27456987|PMID:28492532|PMID:29695758|PMID:29770612|PMID:3456204|PMID:9536098 3090 Mip major intrinsic protein of lens fiber gene DOID:10629 microphthalmia ISO RGD:735323 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868 3090 Mip major intrinsic protein of lens fiber gene DOID:630 genetic disease ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3090 Mip major intrinsic protein of lens fiber gene DOID:83 cataract ISO RGD:735323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10802646 3090 Mip major intrinsic protein of lens fiber gene DOID:83 cataract ISO RGD:735323 D RGD:1599936|PMID:10802646 20070221 RGD 3090 Mip major intrinsic protein of lens fiber gene DOID:83 cataract ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 3090 Mip major intrinsic protein of lens fiber gene DOID:9650 pathologic nystagmus ISO RGD:735323 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 3091 Bhlha15 basic helix-loop-helix family, member a15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737550 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3091 Bhlha15 basic helix-loop-helix family, member a15 gene DOID:630 genetic disease ISO RGD:737550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3092 Mitf melanocyte inducing transcription factor gene DOID:0050563 nonsyndromic deafness ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:28492532|PMID:28690485|PMID:30311386|PMID:31898538 3092 Mitf melanocyte inducing transcription factor gene DOID:0050632 oculocutaneous albinism ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 3092 Mitf melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3092 Mitf melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:7240710 20230517 OMIM 3092 Mitf melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tietz syndrome PMID:10587587|PMID:10851256|PMID:13985019|PMID:16199547|PMID:17318840|PMID:17576681|PMID:20127975|PMID:21373256|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29115496|PMID:29484430|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30414346|PMID:30549420|PMID:30936914|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31898538|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:35802133|PMID:36633841|PMID:8589691|PMID:8659547|PMID:9536098 3092 Mitf melanocyte inducing transcription factor gene DOID:0090100 ocular albinism with sensorineural deafness ISS RGD:735983 D RGD:13592920 20200319 MouseDO 3092 Mitf melanocyte inducing transcription factor gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:735982 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:25741868 3092 Mitf melanocyte inducing transcription factor gene DOID:0110948 Waardenburg syndrome type 1 ISS RGD:735983 D RGD:13592920 20180518 MouseDO OMIM:193500 3092 Mitf melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3092 Mitf melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:7240710 20230517 OMIM 3092 Mitf melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10587587|PMID:10851256|PMID:15284851|PMID:17576681|PMID:20127975|PMID:21373256|PMID:21438779|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30311386|PMID:30414346|PMID:30549420|PMID:31213145|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34599368|PMID:34662886|PMID:35802133|PMID:36633841|PMID:666627|PMID:7874167|PMID:8589691|PMID:8659547|PMID:9158138|PMID:9536098|PMID:9856573 3092 Mitf melanocyte inducing transcription factor gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 3092 Mitf melanocyte inducing transcription factor gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:735982 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 3092 Mitf melanocyte inducing transcription factor gene DOID:10003 sensorineural hearing loss ISO RGD:735982 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868|PMID:29407415 3092 Mitf melanocyte inducing transcription factor gene DOID:10123 pigmentation disease ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 3092 Mitf melanocyte inducing transcription factor gene DOID:1059 intellectual disability ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10851256|PMID:25741868|PMID:28492532 3092 Mitf melanocyte inducing transcription factor gene DOID:13533 osteopetrosis ISS RGD:735983 D RGD:13592920 20180518 MouseDO 3092 Mitf melanocyte inducing transcription factor gene DOID:14021 Tietze's syndrome ISO RGD:735982 D RGD:1599943|PMID:10851256 20070221 RGD 3092 Mitf melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25043973 3092 Mitf melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:13204752|PMID:15103749 20170718 RGD mRNA:increased expression:blood 3092 Mitf melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 3092 Mitf melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 3092 Mitf melanocyte inducing transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22012259 3092 Mitf melanocyte inducing transcription factor gene DOID:4997 Camurati-Engelmann disease ISS RGD:735983 D RGD:13592920 20180518 MouseDO OMIM:131300 | OMIM:606631 3092 Mitf melanocyte inducing transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735982 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3092 Mitf melanocyte inducing transcription factor gene DOID:630 genetic disease ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 3092 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22012259 3092 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:7240710 20230517 OMIM 3092 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28376192|PMID:28492532|PMID:29706638|PMID:30414346 3092 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 3092 Mitf melanocyte inducing transcription factor gene DOID:8923 skin melanoma ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22080950 3092 Mitf melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3092 Mitf melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:7240710 20230517 OMIM 3092 Mitf melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness PMID:27889061|PMID:30311386|PMID:34599368 3092 Mitf melanocyte inducing transcription factor gene DOID:9002843 Waardenburg Syndrome Type 2 ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2 PMID:17576681|PMID:21373256|PMID:28492532|PMID:30117279|PMID:35802133|PMID:36633841|PMID:9536098 3092 Mitf melanocyte inducing transcription factor gene DOID:9004538 Hearing Loss ISO RGD:735982 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:8659547|PMID:9856573 3092 Mitf melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33240314 3092 Mitf melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 3092 Mitf melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 3092 Mitf melanocyte inducing transcription factor gene DOID:9007388 Heterochromia Iridis ISO RGD:735982 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Heterochromia iridis PMID:25741868|PMID:8659547|PMID:9856573 3092 Mitf melanocyte inducing transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 3092 Mitf melanocyte inducing transcription factor gene DOID:9008681 Deafness ISO RGD:735982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 3092 Mitf melanocyte inducing transcription factor gene DOID:9258 Waardenburg's syndrome ISO RGD:735982 D RGD:1599944|PMID:8589691 20070221 RGD 3092 Mitf melanocyte inducing transcription factor gene DOID:9258 Waardenburg's syndrome ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:25741868|PMID:30311386 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733363 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456|PMID:9662404 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:1600930|PMID:9662404 20070330 RGD 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:7240710 20180307 OMIM 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:11134129|PMID:11344206|PMID:12483305|PMID:12679457|PMID:12788847|PMID:14715854|PMID:15126534|PMID:16611713|PMID:16757525|PMID:16954160|PMID:19571553|PMID:20030467|PMID:22463955|PMID:24033266|PMID:24088041|PMID:25251996|PMID:25741868|PMID:27780983|PMID:28492532|PMID:28804203|PMID:30763456|PMID:31690835|PMID:9662404 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:12849 autistic disorder ISO RGD:733363 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:2661 myoepithelioma ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:289 endometriosis ISO RGD:733363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:4479 pseudohypoaldosteronism ISO RGD:733363 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:4479 pseudohypoaldosteronism ISO RGD:733363 D RGD:1600927|PMID:16972228 20070330 RGD 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:4479 pseudohypoaldosteronism ISO RGD:733363 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:5844 myocardial infarction ISO RGD:733363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:17587755 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:6000 congestive heart failure ISO RGD:733363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15722665|PMID:21321305 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:630 genetic disease ISO RGD:733363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:7240710 20130221 OMIM 3094 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy PMID:10884226|PMID:15126534|PMID:16757525|PMID:22463955|PMID:25741868|PMID:28492532 3098 Mme membrane metallo-endopeptidase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 3098 Mme membrane metallo-endopeptidase gene DOID:0080600 COVID-19 ISO RGD:737353 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3098 Mme membrane metallo-endopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:7240710 20190315 OMIM 3098 Mme membrane metallo-endopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 PMID:15464186|PMID:16199547|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:31673878|PMID:33144514|PMID:34758253 3098 Mme membrane metallo-endopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:7240710 20190315 OMIM 3098 Mme membrane metallo-endopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 43 PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27583304|PMID:27588448|PMID:28492532|PMID:30415211|PMID:33144514 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:13801010|PMID:25991605 20181025 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:13801022|PMID:12074840 20181026 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:13801011|PMID:22493749 20181025 RGD DNA:SNP: :rs6797911 (human) 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:13801021|PMID:15860464 20181026 RGD DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:13801023|PMID:17928142 20181026 RGD DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:13801034|PMID:25884928 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease ISS RGD:734285 D RGD:13592920 20180518 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:13801011|PMID:22493749 20181025 RGD DNA:SNPs: :multiple 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:13801012|PMID:21537452 20181025 RGD DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:13801020|PMID:12527400 20181026 RGD DNA:SNPs, repeats, deletion:promoter:multiple 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:13801023|PMID:17928142 20181026 RGD DNA:SNPs, repeat:multiple:multiple 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:1600813|PMID:11849775 20181026 RGD DNA:repeats 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease onset ISO RGD:737353 D RGD:13801009|PMID:28294061 20181025 RGD DNA:SNP:3' utr:rs6665 (human) 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease severity ISO RGD:737353 D RGD:13801019|PMID:19606063 20181026 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13801024|PMID:20141738 20181026 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:734285 D RGD:13801033|PMID:25416980 20181030 RGD associated with Endotoxemia 3098 Mme membrane metallo-endopeptidase gene DOID:1074 kidney failure ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10485324 3098 Mme membrane metallo-endopeptidase gene DOID:10763 hypertension treatment IMP D RGD:13801039|PMID:12011651 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:10976 membranous glomerulonephritis ISO RGD:737353 D RGD:1600817|PMID:15464186 20070327 RGD antenatal membranous glomerulonephritis 3098 Mme membrane metallo-endopeptidase gene DOID:10976 membranous glomerulonephritis ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:30415211 3098 Mme membrane metallo-endopeptidase gene DOID:13250 diarrhea treatment IMP D RGD:13801042|PMID:3481337 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:27588448|PMID:28492532 3098 Mme membrane metallo-endopeptidase gene DOID:574 peripheral nervous system disease ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 3098 Mme membrane metallo-endopeptidase gene DOID:6000 congestive heart failure IEP D RGD:13801043|PMID:12383878 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33144514 3098 Mme membrane metallo-endopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33144514|PMID:9536098 3098 Mme membrane metallo-endopeptidase gene DOID:684 hepatocellular carcinoma IEP D RGD:13801035|PMID:8302012 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:824 periodontitis ISO RGD:737353 D RGD:13801025|PMID:28285126 20181026 RGD mRNA:increased expression:gingiva 3098 Mme membrane metallo-endopeptidase gene DOID:870 neuropathy ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 3098 Mme membrane metallo-endopeptidase gene DOID:9000310 Lung Injury ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21114838 3098 Mme membrane metallo-endopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 3098 Mme membrane metallo-endopeptidase gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:13801045|PMID:8201016 20181030 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:737353 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 3098 Mme membrane metallo-endopeptidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 3098 Mme membrane metallo-endopeptidase gene DOID:9002669 Hypoxia IEP D RGD:13801041|PMID:11557598 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:9002669 Hypoxia treatment ISO RGD:737353 D RGD:13801041|PMID:11557598 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:9005930 Endotoxemia severity IMP D RGD:13801040|PMID:11078421 20181029 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12928894 3098 Mme membrane metallo-endopeptidase gene DOID:9008939 Breast Neoplasms ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 3098 Mme membrane metallo-endopeptidase gene DOID:9246 cerebral amyloid angiopathy ISO RGD:737353 D RGD:1600811|PMID:17021406 20070327 RGD associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) 3098 Mme membrane metallo-endopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:13801026|PMID:21382117 20181026 RGD 3098 Mme membrane metallo-endopeptidase gene DOID:9743 diabetic neuropathy ISO RGD:737353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20148083 3099 Mmp11 matrix metallopeptidase 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:735298 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 3099 Mmp11 matrix metallopeptidase 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:735298 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 3099 Mmp11 matrix metallopeptidase 11 gene DOID:1826 epilepsy ISO RGD:735298 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 3099 Mmp11 matrix metallopeptidase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10741738 3099 Mmp11 matrix metallopeptidase 11 gene DOID:5419 schizophrenia ISO RGD:735298 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3099 Mmp11 matrix metallopeptidase 11 gene DOID:630 genetic disease ISO RGD:735298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3099 Mmp11 matrix metallopeptidase 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:735298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3100 Mmp7 matrix metallopeptidase 7 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 3100 Mmp7 matrix metallopeptidase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:10906 D RGD:9685350|PMID:9850086 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:0080365 endometrial hyperplasia ISO RGD:736005 D RGD:2298522|PMID:17352221 20080707 RGD protein:increased expression:endometrium 3100 Mmp7 matrix metallopeptidase 7 gene DOID:10283 prostate cancer IEP D RGD:9685352|PMID:15894268 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:10286 prostate carcinoma IDA D RGD:1582381|PMID:11406539 20061107 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:1059 intellectual disability ISO RGD:736005 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3100 Mmp7 matrix metallopeptidase 7 gene DOID:1073 renal hypertension IEP D RGD:1302333|PMID:12923405 20080313 RGD protein:increased expression:kidney medulla 3100 Mmp7 matrix metallopeptidase 7 gene DOID:10763 hypertension IEP D RGD:9685347|PMID:19398663 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment IMP D RGD:9685347|PMID:19398663 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:12704 ataxia telangiectasia ISO RGD:736005 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 3100 Mmp7 matrix metallopeptidase 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:736005 D RGD:2298522|PMID:17352221 20080707 RGD protein:increased expression:endometrium 3100 Mmp7 matrix metallopeptidase 7 gene DOID:13948 bladder neck obstruction treatment IEP D RGD:7257549|PMID:23313213 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:2957 pulmonary tuberculosis ISO RGD:736005 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 3100 Mmp7 matrix metallopeptidase 7 gene DOID:3068 glioblastoma severity ISO RGD:736005 D RGD:7207145|PMID:7616276 20130122 RGD protein:increased expression:brain (human) 3100 Mmp7 matrix metallopeptidase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736005 D RGD:5129528|PMID:19596921 20110401 RGD mRNA:increased expression:lung 3100 Mmp7 matrix metallopeptidase 7 gene DOID:4247 coronary restenosis treatment IEP D RGD:9685362|PMID:21139058 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:5199 ureteral obstruction ISO RGD:736005 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 3100 Mmp7 matrix metallopeptidase 7 gene DOID:5844 myocardial infarction ISO RGD:10906 D RGD:1582373|PMID:16769909 20061106 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:630 genetic disease ISO RGD:736005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:736005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25847246 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:9685338|PMID:21567117 20150102 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:9685370|PMID:21935365 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:2325934|PMID:17027671 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9001600 Wounds and Injuries IEP D RGD:9685353|PMID:9888422 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9002055 Chronic Allograft Nephropathy treatment IDA D RGD:9685339|PMID:18209025 20150102 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:8547909|PMID:9549496 20140227 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9002801 Recurrence ISO RGD:736005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25596746 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10906 D RGD:9685340|PMID:23100416 20150102 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:736005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:9685341|PMID:12875773 20150102 RGD associated with Heart Failure 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:736005 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9004610 Acute Lung Injury IEP D RGD:9685338|PMID:21567117 20150102 RGD associated with Sepsis 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:736005 D RGD:5129528|PMID:19596921 20110401 RGD mRNA:increased expression:lung 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:10906 D RGD:9685350|PMID:9850086 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9005396 Intimal Hyperplasia IEP D RGD:9685369|PMID:20098355 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9006081 Osteolysis ISO RGD:10906 D RGD:9685352|PMID:15894268 20150105 RGD associated with Prostatic Neoplasms 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:9685357|PMID:9546322 20150105 RGD 3100 Mmp7 matrix metallopeptidase 7 gene DOID:9007730 Burns IEP D RGD:9685358|PMID:15182445 20150105 RGD mRNA:increased expression:ileum 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10908 D RGD:27226693|PMID:20399564 20200522 RGD 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:1459 hypothyroidism IEP D RGD:27226698|PMID:11592121 20200522 RGD 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27455348 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736574 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:630 genetic disease ISO RGD:736574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:678 progressive supranuclear palsy ISO RGD:736574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10908 D RGD:27226694|PMID:10623862 20200522 RGD 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:10401135|PMID:21350694 20200522 RGD mRNA:decreased expression:retina: 3101 Mobp myelin-associated oligodendrocyte basic protein gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:736574 D RGD:27226701|PMID:24994843 20200522 RGD DNA:SNP: :rs1768208(human) 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:11372 megacolon ISO RGD:736817 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis IDA D RGD:9685554|PMID:23860028 20150119 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:736817 D RGD:9685553|PMID:22157536 20150119 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:736817 D RGD:9685374|PMID:17142321 20150105 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:3213 demyelinating disease ISO RGD:736817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23360710|PMID:23547115 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:630 genetic disease ISO RGD:736817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:8986 narcolepsy ISO RGD:736817 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:9685372|PMID:10384097 20150105 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:9685373|PMID:12799014 20150105 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10909 D RGD:9685375|PMID:14624757 20150105 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:12904460|PMID:16931536|PMID:17654737|PMID:17728465|PMID:18566399|PMID:18667803|PMID:21068375|PMID:21317386|PMID:21341682|PMID:23360710|PMID:23547115|PMID:23639249|PMID:30661753 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9685375|PMID:14624757 20150105 RGD 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9005246 Paralysis ISO RGD:736817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23547115 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:7240710 20140911 OMIM 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 7 PMID:21907016|PMID:25741868 3102 Mog myelin oligodendrocyte glycoprotein gene DOID:9007553 neurotoxicity treatment IEP D RGD:213230154|PMID:33166664 20230323 RGD 3103 Mos MOS proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3104 Cd200 Cd200 molecule gene DOID:417 autoimmune disease ISS RGD:1332092 D RGD:13592920 20180518 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 3104 Cd200 Cd200 molecule gene DOID:630 genetic disease ISO RGD:1606033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3105 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:0050563 nonsyndromic deafness ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing impairment PMID:28492532 3105 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:0060041 autism spectrum disorder ISO RGD:737285 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3105 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:10908 hydrocephalus ISO RGD:737285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411 3105 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29499638|PMID:29924831|PMID:9536098 3105 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:7240710 20140911 OMIM 3105 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411|PMID:29499638|PMID:32860008|PMID:9536098 3106 Mpg N-methylpurine-DNA glycosylase gene DOID:630 genetic disease ISO RGD:731894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3107 Mpi mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:7240710 20130221 OMIM 3107 Mpi mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome PMID:10484808|PMID:10980531|PMID:11134235|PMID:11350186|PMID:12414827|PMID:16199547|PMID:17576681|PMID:18928705|PMID:19862844|PMID:24033266|PMID:24421398|PMID:24474243|PMID:24508628|PMID:25741868|PMID:26206375|PMID:28139241|PMID:28492532|PMID:28928705|PMID:30545931|PMID:3080572|PMID:32905087|PMID:9525984|PMID:9536098|PMID:9585601 3107 Mpi mannose phosphate isomerase gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1349436 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:19862844|PMID:25741868|PMID:28492532 3107 Mpi mannose phosphate isomerase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 3107 Mpi mannose phosphate isomerase gene DOID:2717 Bloom syndrome ISO RGD:1349436 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3107 Mpi mannose phosphate isomerase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1349436 D RGD:1600452|PMID:9525984 20070309 RGD CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC 3107 Mpi mannose phosphate isomerase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349436 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 3107 Mpi mannose phosphate isomerase gene DOID:5419 schizophrenia ISO RGD:1349436 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3107 Mpi mannose phosphate isomerase gene DOID:630 genetic disease ISO RGD:1349436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3107 Mpi mannose phosphate isomerase gene DOID:9256 colorectal cancer ISO RGD:1349436 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3109 Mpz myelin protein zero gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:737128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10071056|PMID:10084540|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:1053307|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11160475|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15326256|PMID:15377707|PMID:15642860|PMID:15716547|PMID:15729519|PMID:16198109|PMID:16199547|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16844954|PMID:16987171|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17602703|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20878767|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21363884|PMID:21504504|PMID:21787890|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22689911|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23250879|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25326637|PMID:25429913|PMID:25448007|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27088055|PMID:27164712|PMID:27344971|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29670817|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31315766|PMID:31372974|PMID:31393079|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34008892|PMID:34539730|PMID:3467805|PMID:6099985|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530550|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9588852|PMID:9595994|PMID:9633821|PMID:9888385 3109 Mpz myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:7240710 20180425 OMIM 3109 Mpz myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10084540|PMID:10399750|PMID:11596785|PMID:11835375|PMID:11935267|PMID:12242557|PMID:12402337|PMID:14711881|PMID:16495463|PMID:17143884|PMID:17576681|PMID:18255032|PMID:20385006|PMID:20461396|PMID:20878767|PMID:20937820|PMID:21363884|PMID:21504504|PMID:22734905|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29687021|PMID:33825325|PMID:34539730|PMID:3467805|PMID:6099985|PMID:7506095|PMID:7530550|PMID:7581451|PMID:7693130|PMID:7694726|PMID:8630052|PMID:8664899|PMID:8816708|PMID:8835320|PMID:9452091|PMID:9536098|PMID:9888385 3109 Mpz myelin protein zero gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:0050771 pheochromocytoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:0050773 paraganglioma ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 3109 Mpz myelin protein zero gene DOID:0090111 PCWH syndrome ISS RGD:10917 D RGD:13592920 20180518 MouseDO OMIM:609136 3109 Mpz myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:7240710 20170920 OMIM 3109 Mpz myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10475757|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:10965800|PMID:11080237|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11801400|PMID:11835375|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16775239|PMID:17030746|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17915947|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18422810|PMID:18636082|PMID:19259128|PMID:19293842|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:20571287|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21326314|PMID:21787890|PMID:21840889|PMID:22451207|PMID:22689911|PMID:22734905|PMID:23250879|PMID:23290023|PMID:23806086|PMID:24053775|PMID:24088041|PMID:24444136|PMID:25429913|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29670817|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8310815|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9452091|PMID:9452099|PMID:9595994|PMID:9633821|PMID:9888385 3109 Mpz myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:7240710 20130221 OMIM 3109 Mpz myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:12207153|PMID:12402337|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15241803|PMID:15326256|PMID:15377707|PMID:16279991|PMID:16775239|PMID:17663472|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:22433810|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29465609|PMID:29687021|PMID:31211173|PMID:31827005|PMID:8664899|PMID:9187667|PMID:9452091 3109 Mpz myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:7240710 20130221 OMIM 3109 Mpz myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I PMID:10071056|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11935267|PMID:12207153|PMID:12242557|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12948789|PMID:14638973|PMID:15159512|PMID:15241803|PMID:15249646|PMID:15377707|PMID:16279991|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20385006|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22433810|PMID:24053775|PMID:24444136|PMID:25326637|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26310628|PMID:26467025|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:31902012|PMID:33179255|PMID:34008892|PMID:3467805|PMID:7506095|PMID:8664899|PMID:9187667|PMID:9452091|PMID:9595994 3109 Mpz myelin protein zero gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:10737979|PMID:11545686|PMID:12807974|PMID:12953275|PMID:15094849|PMID:15241803|PMID:17468193|PMID:19454582|PMID:20456450|PMID:23342407|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7527371|PMID:8664899|PMID:9187667 3109 Mpz myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:7240710 20130221 OMIM 3109 Mpz myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D PMID:10071056|PMID:10329755|PMID:10406984|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11673479|PMID:11835375|PMID:12207153|PMID:12402337|PMID:12911457|PMID:12948789|PMID:12953275|PMID:14711881|PMID:15094849|PMID:15159512|PMID:15241803|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19691535|PMID:19928689|PMID:20456450|PMID:20461396|PMID:20800346|PMID:24028194|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31173589|PMID:31211173|PMID:31827005|PMID:32376792|PMID:34008892|PMID:7505151|PMID:7527371|PMID:7581451|PMID:8664899|PMID:8816708|PMID:8990016|PMID:9187667|PMID:9452091|PMID:9633821|PMID:9888385 3109 Mpz myelin protein zero gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20571287|PMID:25694466|PMID:28492532|PMID:7693129 3109 Mpz myelin protein zero gene DOID:0111206 distal hereditary motor neuronopathy type 2 ISO RGD:737128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:12207153|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15377707|PMID:16279991|PMID:16775239|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:9452091 3109 Mpz myelin protein zero gene DOID:1059 intellectual disability ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15729519|PMID:20461396|PMID:25614874|PMID:25741868|PMID:28492532|PMID:7688964 3109 Mpz myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:1358513|PMID:11080237 19990101 RGD 3109 Mpz myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:7240710 20130221 OMIM 3109 Mpz myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11085599|PMID:11160475|PMID:11437164|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11701152|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15261887|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16198109|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16987171|PMID:17030746|PMID:17143884|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380018|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19918771|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21503568|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:23806086|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25388615|PMID:25429913|PMID:25430934|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27527004|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:34008892|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530774|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8990016|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9595994|PMID:9633821|PMID:9888385 3109 Mpz myelin protein zero gene DOID:11446 sciatic neuropathy treatment IEP D RGD:9685778|PMID:23545781 20150127 RGD 3109 Mpz myelin protein zero gene DOID:11720 distal myopathy ISO RGD:737128 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 3109 Mpz myelin protein zero gene DOID:1540 parathyroid carcinoma ISO RGD:737128 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3109 Mpz myelin protein zero gene DOID:231 motor neuron disease ISO RGD:737128 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 3109 Mpz myelin protein zero gene DOID:2477 motor peripheral neuropathy ISO RGD:737128 D RGD:11554173 20180807 CTD CTD Direct Evidence: marker/mechanism 3109 Mpz myelin protein zero gene DOID:2491 sensory peripheral neuropathy ISO RGD:737128 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 3109 Mpz myelin protein zero gene DOID:574 peripheral nervous system disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 3109 Mpz myelin protein zero gene DOID:630 genetic disease ISO RGD:737128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10071056|PMID:10084540|PMID:10329755|PMID:10545037|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11437164|PMID:11445635|PMID:11545686|PMID:11673479|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12402337|PMID:12477701|PMID:12911457|PMID:12948789|PMID:14638973|PMID:14711881|PMID:14871447|PMID:15004559|PMID:15050444|PMID:15159512|PMID:15170620|PMID:15249646|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16252242|PMID:16279991|PMID:16488608|PMID:16775239|PMID:16844954|PMID:17297707|PMID:17576681|PMID:17602703|PMID:17915947|PMID:18337304|PMID:18380030|PMID:19259128|PMID:19293842|PMID:19629567|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22222859|PMID:22704856|PMID:25448007|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26467025|PMID:27088055|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34060176|PMID:7527371|PMID:7530295|PMID:7688964|PMID:8644725|PMID:8723697|PMID:8797476|PMID:8816708|PMID:9217235|PMID:9452091|PMID:9536098|PMID:9595994|PMID:9888385 3109 Mpz myelin protein zero gene DOID:870 neuropathy ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 3109 Mpz myelin protein zero gene DOID:870 neuropathy ISS RGD:10917 D RGD:13592920 20190124 MouseDO 3109 Mpz myelin protein zero gene DOID:9000495 Tremor ISO RGD:737128 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 3109 Mpz myelin protein zero gene DOID:9002211 Hyperalgesia ISO RGD:737128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 3109 Mpz myelin protein zero gene DOID:9002955 Nerve Degeneration ISO RGD:737128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 3109 Mpz myelin protein zero gene DOID:9003626 Paragangliomas 3 ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:7240710 20190315 OMIM 3109 Mpz myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:10319895|PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15184631|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9888385 3109 Mpz myelin protein zero gene DOID:9005417 Charcot-Marie-Tooth Disease, Dominant Intermediate 3 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 3 PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:9187667|PMID:9888385 3109 Mpz myelin protein zero gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737128 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:9008305 Talipes Cavus ISO RGD:737128 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 3109 Mpz myelin protein zero gene DOID:913 atrophic muscular disease ISO RGD:737128 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Distal lower limb amyotrophy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:19293842|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 3109 Mpz myelin protein zero gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 3109 Mpz myelin protein zero gene DOID:9277 primary cerebellar degeneration ISO RGD:737128 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:25741868 3109 Mpz myelin protein zero gene DOID:9743 diabetic neuropathy treatment IEP D RGD:9685782|PMID:22158827 20150127 RGD associated with Diabetes Mellitus, Experimental 3111 Mras muscle RAS oncogene homolog gene DOID:0080690 RASopathy ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:28289718|PMID:30348783|PMID:31108500|PMID:31638832 3111 Mras muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:7240710 20190731 OMIM 3111 Mras muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 11 PMID:25252692|PMID:25741868|PMID:28289718|PMID:28492532|PMID:30348783|PMID:31108500|PMID:31173466|PMID:31638832 3111 Mras muscle RAS oncogene homolog gene DOID:3393 coronary artery disease ISO RGD:733433 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:35590109 3111 Mras muscle RAS oncogene homolog gene DOID:3407 carotid artery disease ISO RGD:733433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198612 3111 Mras muscle RAS oncogene homolog gene DOID:630 genetic disease ISO RGD:733433 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28289718|PMID:28492532 3111 Mras muscle RAS oncogene homolog gene DOID:9000528 Coronary Disease ISO RGD:733433 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 3111 Mras muscle RAS oncogene homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:733433 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:7240710 20200701 OMIM 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 77 PMID:31273342 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10919 D RGD:13801010|PMID:25991605 20181025 RGD 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:10763 hypertension ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17272743 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:114 heart disease ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:12849 autistic disorder ISO RGD:1344624 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:1324 lung cancer treatment ISO RGD:10919 D RGD:153344587|PMID:35289739 20220829 RGD 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:1344624 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:2841 asthma ISO RGD:10919 D RGD:5128825|PMID:18931056 20110318 RGD 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:5128824|PMID:20487524 20110318 RGD DNA:SNPs: :rs212093, rs4148382 (human) 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:5128827|PMID:12930913 20110318 RGD mRNA:decreased expression:respiratory epithelial cell 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:5419 schizophrenia ISO RGD:1344624 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344624 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:630 genetic disease ISO RGD:1344624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:8445 intestinal volvulus ISO RGD:1344624 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:874 bacterial pneumonia ISO RGD:10919 D RGD:5128828|PMID:11238654 20110318 RGD 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9000918 Disease Progression ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18256692 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1344624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344624 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 3112 Abcc1 ATP binding cassette subfamily C member 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344624 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 3113 Msmb microseminoprotein, beta gene DOID:10283 prostate cancer ISS RGD:69209 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 3113 Msmb microseminoprotein, beta gene DOID:11372 megacolon ISO RGD:69208 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3113 Msmb microseminoprotein, beta gene DOID:630 genetic disease ISO RGD:69208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3113 Msmb microseminoprotein, beta gene DOID:9002015 Prostate Cancer, Hereditary, 13 ISO RGD:69208 D RGD:7240710 20130425 OMIM 3113 Msmb microseminoprotein, beta gene DOID:9002015 Prostate Cancer, Hereditary, 13 ISO RGD:69208 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 13 PMID:18264096|PMID:18264097|PMID:19153072|PMID:19383797|PMID:19644707 3113 Msmb microseminoprotein, beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:69208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:18264096|PMID:18264097 3114 Mst1 macrophage stimulating 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 3114 Mst1 macrophage stimulating 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 3114 Mst1 macrophage stimulating 1 gene DOID:14268 sclerosing cholangitis ISO RGD:736655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 3114 Mst1 macrophage stimulating 1 gene DOID:630 genetic disease ISO RGD:736655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3114 Mst1 macrophage stimulating 1 gene DOID:8577 ulcerative colitis ISO RGD:736655 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799 3114 Mst1 macrophage stimulating 1 gene DOID:8778 Crohn's disease ISO RGD:736655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 3114 Mst1 macrophage stimulating 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736655 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 3114 Mst1 macrophage stimulating 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:736655 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 3114 Mst1 macrophage stimulating 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736655 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3114 Mst1 macrophage stimulating 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736655 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 3115 Mstn myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15215484|PMID:19248183 3115 Mstn myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:7240710 20180822 OMIM 3115 Mstn myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 3115 Mstn myostatin gene DOID:0111944 immunodeficiency 31B ISO RGD:736334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 3115 Mstn myostatin gene DOID:1459 hypothyroidism IEP D RGD:2303545|PMID:18997488 20090218 RGD 3115 Mstn myostatin gene DOID:332 amyotrophic lateral sclerosis IMP D RGD:2303556|PMID:16837207 20090219 RGD 3115 Mstn myostatin gene DOID:341 peripheral vascular disease IEP D RGD:2303544|PMID:19125275 20090218 RGD 3115 Mstn myostatin gene DOID:4676 uremia IEP D RGD:2303558|PMID:16871256 20090219 RGD associated with Kidney Failure, Chronic 3115 Mstn myostatin gene DOID:6000 congestive heart failure IEP D RGD:2303554|PMID:16968467 20090219 RGD mRNA, protein:increased expression:myocardium 3115 Mstn myostatin gene DOID:6000 congestive heart failure ISO RGD:736334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968467 3115 Mstn myostatin gene DOID:630 genetic disease ISO RGD:736334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3115 Mstn myostatin gene DOID:767 muscular atrophy IEP D RGD:2303594|PMID:15758361 20090219 RGD mRNA, protein:altered expression:skeletal muscle 3115 Mstn myostatin gene DOID:767 muscular atrophy IEP D RGD:2303596|PMID:15738643 20090219 RGD associated with Addison's Disease 3115 Mstn myostatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736334 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3115 Mstn myostatin gene DOID:9007346 Cachexia IEP D RGD:2303552|PMID:18578694 20090219 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle 3115 Mstn myostatin gene DOID:9007730 Burns IEP D RGD:2303598|PMID:11481237 20090219 RGD mRNA:increased expression:skeletal muscle 3116 Msx2 msh homeobox 2 gene DOID:0060285 parietal foramina ISO RGD:735997 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11137991 3116 Msx2 msh homeobox 2 gene DOID:0060285 parietal foramina ISO RGD:735997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum PMID:10742103|PMID:10742104|PMID:10767351|PMID:14571277|PMID:16319823|PMID:18786927|PMID:20301307|PMID:22948472|PMID:23918290|PMID:23949913|PMID:24666290|PMID:25741868|PMID:27013732|PMID:27884935|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 3116 Msx2 msh homeobox 2 gene DOID:10763 hypertension IEP D RGD:5132616|PMID:18270471 20110527 RGD 3116 Msx2 msh homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:735997 D RGD:1600491|PMID:8968743 20070312 RGD craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H 3116 Msx2 msh homeobox 2 gene DOID:2340 craniosynostosis ISS RGD:735997 D RGD:13592920 20180518 MouseDO OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 3116 Msx2 msh homeobox 2 gene DOID:630 genetic disease ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3116 Msx2 msh homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16513791 3116 Msx2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:7240710 20130221 OMIM 3116 Msx2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 2 PMID:16319823|PMID:18786927|PMID:20301307|PMID:23918290|PMID:23949913|PMID:25741868|PMID:27013732|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 3116 Msx2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:7240710 20190327 OMIM 3116 Msx2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 1 PMID:10742103|PMID:10767351|PMID:16222674|PMID:25741868|PMID:28492532 3116 Msx2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:7240710 20130221 OMIM 3116 Msx2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia PMID:14571277 3116 Msx2 msh homeobox 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735997 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 3116 Msx2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9147639 3116 Msx2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:1600492|PMID:10742103 20070312 RGD parietal foramina, OMIM:168500, DNA:point mutation:exon: R172H, DNA:deletions 3116 Msx2 msh homeobox 2 gene DOID:9008763 Femoral Fractures IEP D RGD:5132608|PMID:16451220 20110527 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte 3117 Mt1 metallothionein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737231 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 3117 Mt1 metallothionein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737231 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 3117 Mt1 metallothionein 1 gene DOID:10652 Alzheimer's disease ISO RGD:10922 D RGD:10412319|PMID:22766972 20151117 RGD 3117 Mt1 metallothionein 1 gene DOID:1074 kidney failure IEP D RGD:6483854|PMID:16226777 20120608 RGD associated with Cadmium Poisoning;mRNA:increased expression:kidney 3117 Mt1 metallothionein 1 gene DOID:11054 urinary bladder cancer ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16565513 3117 Mt1 metallothionein 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17418620 3117 Mt1 metallothionein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 3117 Mt1 metallothionein 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10412650|PMID:10884303 20151118 RGD mRNA:increased expression:cerebral cortex 3117 Mt1 metallothionein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10922 D RGD:6484130|PMID:16179515 20120608 RGD mRNA:increased expression:spinal cord (mouse) 3117 Mt1 metallothionein 1 gene DOID:571 median neuropathy IEP D RGD:6483815|PMID:22253198 20151118 RGD 3117 Mt1 metallothionein 1 gene DOID:630 genetic disease ISO RGD:737231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3117 Mt1 metallothionein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17363595|PMID:19363144 3117 Mt1 metallothionein 1 gene DOID:8466 retinal degeneration ISO RGD:10922 D RGD:10412646|PMID:23132798 20151118 RGD mRNA:increased expression:retina 3117 Mt1 metallothionein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17418620 3117 Mt1 metallothionein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 3117 Mt1 metallothionein 1 gene DOID:9002644 Premature Aging ISO RGD:10922 D RGD:10412323|PMID:18410310 20151117 RGD 3117 Mt1 metallothionein 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:2306905|PMID:16034371 20120611 RGD mRNA:increased expression:cerebral cortex, striatum (rat) 3117 Mt1 metallothionein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10922 D RGD:6484112|PMID:19619133 20120606 RGD mRNA:increased expression:brain (mouse) 3117 Mt1 metallothionein 1 gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484135|PMID:10535526 20120611 RGD protein:increased expression:liver (rat) 3117 Mt1 metallothionein 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17418620 3117 Mt1 metallothionein 1 gene DOID:9007480 Hyperoxia ISO RGD:10922 D RGD:6484136|PMID:8110467 20120611 RGD mRNA:increased expression:lung (mouse) 3117 Mt1 metallothionein 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19953893 3117 Mt1 metallothionein 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:737231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 3122 Muc1 mucin 1, cell surface associated gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737252 D RGD:7244290|PMID:22963039 20130603 RGD protein:increased expression:serum: 3122 Muc1 mucin 1, cell surface associated gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 3122 Muc1 mucin 1, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:737252 D RGD:2317987|PMID:19129927 20100505 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:0050848 obstructive sleep apnea ISO RGD:737252 D RGD:5131166|PMID:19336590 20110421 RGD protein:increased expression:plasma 3122 Muc1 mucin 1, cell surface associated gene DOID:0060071 pre-malignant neoplasm ISO RGD:737252 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 3122 Muc1 mucin 1, cell surface associated gene DOID:0080600 COVID-19 ISO RGD:737252 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 3122 Muc1 mucin 1, cell surface associated gene DOID:0111940 immunodeficiency 42 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3122 Muc1 mucin 1, cell surface associated gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3122 Muc1 mucin 1, cell surface associated gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3122 Muc1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:7349375|PMID:22089171 20130923 RGD mRNA, protein:increased expression:conjuctival epithelial cell, tear 3122 Muc1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:7349376|PMID:18619437 20130923 RGD DNA:splice variant: :rs4072037 (human) 3122 Muc1 mucin 1, cell surface associated gene DOID:10283 prostate cancer severity ISO RGD:737252 D RGD:7349340|PMID:16475027 20130919 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:10754 otitis media IEP D RGD:2303743|PMID:11576628 20100521 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear 3122 Muc1 mucin 1, cell surface associated gene DOID:11054 urinary bladder cancer ISO RGD:737252 D RGD:7245967|PMID:10468735 20130617 RGD protein:increased expression:serum: 3122 Muc1 mucin 1, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:737252 D RGD:7349351|PMID:17177679 20130920 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:11339 pneumocystosis ISO RGD:737252 D RGD:5131424|PMID:9617869 20110427 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:11394 adult respiratory distress syndrome ISO RGD:737252 D RGD:5131171|PMID:16779848 20110421 RGD associated with critical illness; protein:increased expression:plasma 3122 Muc1 mucin 1, cell surface associated gene DOID:114 heart disease ISO RGD:737252 D RGD:5131164|PMID:19856476 20110421 RGD associated with Bronchiolitis, Viral; protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:737252 D RGD:5131170|PMID:18025794 20110421 RGD protein:increased expression:cord plasma 3122 Muc1 mucin 1, cell surface associated gene DOID:13406 pulmonary sarcoidosis ISO RGD:737252 D RGD:5131177|PMID:14665489 20110421 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:13891 bird fancier's lung ISO RGD:737252 D RGD:5131172|PMID:15881280 20110421 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:1485 cystic fibrosis ISO RGD:737252 D RGD:5131272|PMID:19960788 20110426 RGD protein:increased expression:serum (human) 3122 Muc1 mucin 1, cell surface associated gene DOID:1540 parathyroid carcinoma ISO RGD:737252 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3122 Muc1 mucin 1, cell surface associated gene DOID:1612 breast cancer ISO RGD:737252 D RGD:7349378|PMID:8869094 20130923 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:1790 malignant mesothelioma ISO RGD:737252 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 3122 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:2317987|PMID:19129927 20100505 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:2324622|PMID:19055478 20100506 RGD protein:increased secretion:bile 3122 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:2324635|PMID:18575732 20100506 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:2324637|PMID:18383873 20100507 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:2324639|PMID:18039393 20100507 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:737252 D RGD:2317984|PMID:14654947 20100505 RGD protein:increased expression:pancreas 3122 Muc1 mucin 1, cell surface associated gene DOID:2799 bronchiolitis obliterans ISO RGD:737252 D RGD:5131273|PMID:16969297 20110426 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:2841 asthma ISO RGD:737252 D RGD:5131281|PMID:11802251 20110426 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:3030 mucinous adenocarcinoma ISO RGD:737252 D RGD:2317980|PMID:20357691 20100505 RGD associated with Pancreatic Diseases 3122 Muc1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:4143496|PMID:19286849 20110421 RGD associated with Scleroderma, Systemic;protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:5131176|PMID:15088311 20110421 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease severity ISO RGD:737252 D RGD:5131173|PMID:15654008 20110421 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737252 D RGD:5131160|PMID:21474912 20110421 RGD protein:increased expression:sputum (human) 3122 Muc1 mucin 1, cell surface associated gene DOID:3458 breast adenocarcinoma ISO RGD:737252 D RGD:2324855|PMID:7678777 20100513 RGD mRNA,protein:increased expression:breast 3122 Muc1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737252 D RGD:2317983|PMID:14681945 20100505 RGD protein:increased expression, altered localization:pancreas 3122 Muc1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737252 D RGD:2324616|PMID:19109152 20100506 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737252 D RGD:2324633|PMID:18713982 20100506 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:3910 lung adenocarcinoma ISO RGD:737252 D RGD:5131260|PMID:8694545 20110426 RGD mRNA:increased expression:lung 3122 Muc1 mucin 1, cell surface associated gene DOID:418 systemic scleroderma ISO RGD:737252 D RGD:4143496|PMID:19286849 20110421 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737252 D RGD:7245968|PMID:10390012 20130617 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis IEP D RGD:127345100|PMID:31425778 20210709 RGD mRNA,protein:decreased expression:nasal mucosa 3122 Muc1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:737252 D RGD:127345100|PMID:31425778 20210709 RGD mRNA,protein:decreased expression:nasal mucosa 3122 Muc1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis severity IMP D RGD:127345100|PMID:31425778 20210715 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:737252 D RGD:2324856|PMID:8766528 20100513 RGD protein:increased expression:bile duct 3122 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma IEP D RGD:2324638|PMID:18081149 20100507 RGD mRNA:increased expression:bile duct 3122 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma IEP D RGD:2324667|PMID:15213623 20100507 RGD protein:increased expression:bile duct: 3122 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:2324622|PMID:19055478 20100506 RGD protein:increased secretion:bile 3122 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:2324664|PMID:19260467 20100507 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737252 D RGD:2317986|PMID:19639217 20100505 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:552 pneumonia ISO RGD:737252 D RGD:5131281|PMID:11802251 20110426 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:5812 MHC class II deficiency ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3122 Muc1 mucin 1, cell surface associated gene DOID:630 genetic disease ISO RGD:737252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3122 Muc1 mucin 1, cell surface associated gene DOID:850 lung disease ISO RGD:737252 D RGD:5131175|PMID:15526815 20110421 RGD associated with arthritis, rheumatoid; protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:850 lung disease severity ISO RGD:737252 D RGD:5131182|PMID:10931429 20110422 RGD protein:increased expression:plasma 3122 Muc1 mucin 1, cell surface associated gene DOID:8622 measles severity ISO RGD:737252 D RGD:5131281|PMID:11802251 20110426 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:737252 D RGD:2324857|PMID:10398137 20100513 RGD mRNA,protein:increased expression:gallbladder 3122 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:2324649|PMID:16222735 20100507 RGD associated with Common Bile Duct Neoplasms 3122 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:2324860|PMID:11295067 20100507 RGD associated with Gallbladder Neoplasms;protein:altered localization:gallbladder 3122 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:7245968|PMID:10390012 20130617 RGD associated with Carcinoma, Renal Cell; 3122 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:7349383|PMID:21339746 20130924 RGD associated with Esophageal Neoplasms 3122 Muc1 mucin 1, cell surface associated gene DOID:9000217 Stomach Neoplasms ISO RGD:737252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 3122 Muc1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:737252 D RGD:2324648|PMID:16707592 20100507 RGD associated with Pancreatic Neoplasms 3122 Muc1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:737252 D RGD:2324652|PMID:12941828 20100507 RGD associated with Pancreatic Neoplasms 3122 Muc1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737252 D RGD:7245968|PMID:10390012 20130617 RGD associated with Carcinoma, Renal Cell; 3122 Muc1 mucin 1, cell surface associated gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737252 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 3122 Muc1 mucin 1, cell surface associated gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:7364757|PMID:21775928 20130926 RGD mRNA, protein:decreased expression:bile duct 3122 Muc1 mucin 1, cell surface associated gene DOID:9002231 Fetal Growth Retardation IEP D RGD:7349369|PMID:19287349 20130923 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:9002661 Diabetes Complications IEP D RGD:7349380|PMID:23977093 20130924 RGD associated with Diabetes Mellitus, Experimental 3122 Muc1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396133 3122 Muc1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:7240710 20130731 OMIM 3122 Muc1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:7244289|PMID:23396133 20130603 RGD DNA:mutation:: 3122 Muc1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2 PMID:15384011|PMID:23396133|PMID:25741868|PMID:33532864 3122 Muc1 mucin 1, cell surface associated gene DOID:9003566 Mesothelioma ISO RGD:737252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18454162 3122 Muc1 mucin 1, cell surface associated gene DOID:9004009 Reperfusion Injury IEP D RGD:7349380|PMID:23977093 20130924 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:737252 D RGD:7349374|PMID:23015160 20130923 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:7245959|PMID:22019164 20130617 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:737252 D RGD:7246892|PMID:17162148 20130620 RGD protein:increased expression:kidney tubule, serum: 3122 Muc1 mucin 1, cell surface associated gene DOID:9006532 Hematologic Neoplasms ISO RGD:737252 D RGD:5131276|PMID:12186700 20110426 RGD associated with Pneumonia, Pneumocystis; protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737252 D RGD:5131164|PMID:19856476 20110421 RGD protein:increased expression:serum 3122 Muc1 mucin 1, cell surface associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737252 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22457794 3122 Muc1 mucin 1, cell surface associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737252 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3122 Muc1 mucin 1, cell surface associated gene DOID:9423 blepharitis ISO RGD:10927 D RGD:7349379|PMID:10359313 20130923 RGD 3122 Muc1 mucin 1, cell surface associated gene DOID:9538 multiple myeloma ISO RGD:737252 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9949172 3122 Muc1 mucin 1, cell surface associated gene DOID:9700 bacterial conjunctivitis ISO RGD:10927 D RGD:7349379|PMID:10359313 20130923 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050589 inflammatory bowel disease ISS RGD:10928 D RGD:13592920 20180518 MouseDO 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060071 pre-malignant neoplasm IEP D RGD:7349371|PMID:17847023 20130923 RGD protein:decreased expression:colon 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis IEP D RGD:2324675|PMID:19220658 20100510 RGD mRNA:decreased expression:colon 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:10928 D RGD:7349356|PMID:12395902 20130920 RGD protein:decreased sulfation:descending colon 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis treatment IDA D RGD:7349360|PMID:23395625 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis treatment IEP D RGD:7349385|PMID:21949848 20130924 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080178 mucositis IEP D RGD:2303603|PMID:18998135 20130923 RGD protein:decreased expression:intestine 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:735987 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:735987 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:11204 allergic conjunctivitis severity ISO RGD:735987 D RGD:7349351|PMID:17177679 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:12236 primary biliary cholangitis ISO RGD:735987 D RGD:2324885|PMID:18507686 20130919 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1324 lung cancer ISO RGD:735987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735987 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:735987 D RGD:5131426|PMID:9155717 20110427 RGD mRNA:increased expression:nasal mucosa (human) 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:735987 D RGD:7349345|PMID:17659847 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1984 rectal benign neoplasm ISO RGD:735987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer IEP D RGD:7349368|PMID:20459814 20130923 RGD mRNA:decreased expression:colon 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer IEP D RGD:7349371|PMID:17847023 20130923 RGD protein:decreased expression:colon 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:10928 D RGD:7349354|PMID:14594655 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:735987 D RGD:5131178|PMID:11062147 20110421 RGD associated with hypersensitivity 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:299 adenocarcinoma ISO RGD:735987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:2317985|PMID:12717243 20100505 RGD associated Pancreatic Neoplasms;protein:increased expression:pancreas 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:2324868|PMID:15048136 20100513 RGD associated with cholangiocarcinoma;mRNA,protein:increased expression:bile duct 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:2324887|PMID:17708554 20100514 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:2324889|PMID:19954814 20100514 RGD associated with pancreatic diseases;protein:increased expression:pancreas 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:326 ischemia IEP D RGD:7349363|PMID:22768227 20130920 RGD protein:decreased expression:jejunum 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:735987 D RGD:2324948|PMID:11680592 20100526 RGD mRNA:decreased expression:bile duct 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:5082 liver cirrhosis IEP D RGD:7349362|PMID:22172882 20130920 RGD mRNA:increased expression:ileum 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:5295 intestinal disease treatment IDA D RGD:7349361|PMID:22293291 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:5409 lung small cell carcinoma ISO RGD:735987 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:552 pneumonia treatment IDA D RGD:7349359|PMID:23590300 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:657 adenoma ISO RGD:735987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:8577 ulcerative colitis IEP D RGD:2324685|PMID:12870797 20100510 RGD mRNA:altered expression: : 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:2324672|PMID:20501441 20100510 RGD mRNA:decreased expression:ileum 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735987 D RGD:2324651|PMID:15260848 20100514 RGD protein:increased expression:gallbladder 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000645 Rotavirus Infections ISO RGD:10928 D RGD:7349352|PMID:15882887 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002231 Fetal Growth Retardation IEP D RGD:7349369|PMID:19287349 20130923 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002245 Intestinal Neoplasms ISO RGD:735987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002953 Escherichia Coli Infections IEP D RGD:7349358|PMID:23798529 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections IEP D RGD:2303607|PMID:16689826 20100510 RGD mRNA:increased expression:intestine 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:10928 D RGD:7349349|PMID:20138044 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004283 Transplant Rejection IEP D RGD:7349372|PMID:12717211 20130923 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005372 Inflammation IEP D RGD:8693640|PMID:15980276 20100510 RGD protein:altered expression:colon 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005930 Endotoxemia IEP D RGD:7349370|PMID:19099858 20130923 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9006970 Cestode Infections IEP D RGD:7349350|PMID:17187651 20130920 RGD 3123 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735987 D RGD:7349348|PMID:23011828 20130920 RGD 3124 Muc3 mucin 3 gene DOID:0060180 colitis IEP D RGD:1625545|PMID:16964428 20100521 RGD mRNA:increased expression:ileum, colon 3124 Muc3 mucin 3 gene DOID:0060180 colitis treatment IDA D RGD:7349360|PMID:23395625 20130920 RGD 3124 Muc3 mucin 3 gene DOID:10283 prostate cancer ISO RGD:1312511 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3124 Muc3 mucin 3 gene DOID:10754 otitis media IEP D RGD:2303743|PMID:11576628 20100526 RGD associated with Pneumococcal Infections 3124 Muc3 mucin 3 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736898 D RGD:2324946|PMID:12657964 20100526 RGD mRNA:increased expression:pancreas 3124 Muc3 mucin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312511 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3124 Muc3 mucin 3 gene DOID:4947 cholangiocarcinoma ISO RGD:736898 D RGD:2324948|PMID:11680592 20100526 RGD mRNA:decreased expression:bile duct 3124 Muc3 mucin 3 gene DOID:5082 liver cirrhosis IEP D RGD:7349362|PMID:22172882 20130920 RGD mRNA:increased expression:ileum 3124 Muc3 mucin 3 gene DOID:630 genetic disease ISO RGD:1312511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3124 Muc3 mucin 3 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:7364757|PMID:21775928 20130926 RGD mRNA, protein:decreased expression:bile duct 3124 Muc3 mucin 3 gene DOID:9002992 Nematode Infections IEP D RGD:2303607|PMID:16689826 20100526 RGD mRNA:increased expression:intestine 3124 Muc3 mucin 3 gene DOID:9446 cholangitis IEP D RGD:2325170|PMID:19032457 20100521 RGD mRNA:increased expression:bile duct 3127 Mx1 MX dynamin like GTPase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353561 D RGD:126777681|PMID:23438650 20210407 RGD DNA:SNP:promoter:-g.88G>T (rs2071430) (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:1353561 D RGD:126777683|PMID:28736973 20210407 RGD protein:increased expression:body wart (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:12849 autistic disorder ISO RGD:1353561 D RGD:8554872 20210316 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3127 Mx1 MX dynamin like GTPase 1 gene DOID:13636 Fanconi anemia ISO RGD:1353561 D RGD:11554173 20210323 CTD CTD Direct Evidence: marker/mechanism PMID:9389754 3127 Mx1 MX dynamin like GTPase 1 gene DOID:409 liver disease ISO RGD:1353561 D RGD:126777674|PMID:28139728 20210407 RGD associated with human immunodeficiency virus infectious disease, Chronic Hepatitis C:DNA:SNP, missense mutation:intron 3, exon 13: (rs464397, rs469390) (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:4492 avian influenza ISO RGD:1353561 D RGD:11554173 20210323 CTD CTD Direct Evidence: therapeutic PMID:178595 3127 Mx1 MX dynamin like GTPase 1 gene DOID:4492 avian influenza susceptibility ISO RGD:1353561 D RGD:126777675|PMID:28396461 20210407 RGD human gene in a mouse model 3127 Mx1 MX dynamin like GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1353561 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 3127 Mx1 MX dynamin like GTPase 1 gene DOID:630 genetic disease ISO RGD:1353561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353561 D RGD:11554173 20210323 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9000310 Lung Injury ISO RGD:1552414 D RGD:9068941 20210409 RGD mRNA: increased expression: lung (mouse) PMID:31921151|REF_RGD_ID:126779575 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9000371 influenza A ameliorates ISO RGD:1353561 D RGD:126777673|PMID:30945621 20210407 RGD human gene in a mouse model 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9000371 influenza A ameliorates ISO RGD:1353561 D RGD:126777680|PMID:31653718 20210407 RGD human gene in a mouse model 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9000371 influenza A ameliorates ISO RGD:1552414 D RGD:126777671|PMID:30696001 20210407 RGD fused with PTD 9-arginine sequence 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9000371 influenza A ameliorates ISO RGD:1552414 D RGD:126777676|PMID:1371172 20210407 RGD 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9001488 Human Influenza ISO RGD:1353561 D RGD:11554173 20210323 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C exacerbates ISO RGD:1353561 D RGD:126777679|PMID:29271328 20210407 RGD DNA:SNPs:promoter: (rs2071430, rs17000900) (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C treatment IEP D RGD:40400915|PMID:28036111 20201105 RGD 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353561 D RGD:11067846|PMID:25239021 20210407 RGD DNA:SNPs:promoter:g.-123C>A, -88G>T(human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353561 D RGD:8554872 20210316 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353561 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9006549 Enterovirus Infections susceptibility ISO RGD:1353561 D RGD:126777678|PMID:24085612 20210407 RGD DNA:SNPs:promoter:g.-123C>A, g.-88G>T (rs17000900, rs2071430) (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9006844 Streptococcal Infections ISO RGD:1353561 D RGD:126777682|PMID:28077283 20210407 RGD associated with pharyngitis;protein:increased expression:blood (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353561 D RGD:11554173 20210323 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1353561 D RGD:126777677|PMID:25542463 20210407 RGD protein:increased expression:blood (human) 3127 Mx1 MX dynamin like GTPase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353561 D RGD:11554173 20210323 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 3127 Mx1 MX dynamin like GTPase 1 gene DOID:986 alopecia areata onset ISO RGD:1353561 D RGD:126777672|PMID:10942113 20210407 RGD DNA:SNP:intron 6:g.9959C>T (human) 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:736546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:1600204|PMID:7773287 20070302 RGD 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:7240710 20180418 OMIM 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:7773287 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:2394 ovarian cancer ISO RGD:736546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:3458 breast adenocarcinoma IAGP D RGD:1298988|PMID:10849326 20070302 RGD 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:3512 neurofibrosarcoma ISO RGD:736546 D RGD:1600205|PMID:10470286 20070302 RGD 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:3512 neurofibrosarcoma ISO RGD:736546 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Neurofibrosarcoma PMID:10470286 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:5041 esophageal cancer IAGP D RGD:1298988|PMID:10849326 20070302 RGD 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:557 kidney disease ISO RGD:736546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23316056 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:630 genetic disease ISO RGD:736546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3128 Mxi1 MAX interactor 1, dimerization protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:736546 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:151665099|PMID:26440310 20220310 RGD associated with neoplasms, radiation-induced; DNA:amplification: (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731438 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050855 renal fibrosis ISO RGD:10940 D RGD:7207450|PMID:19297557 20130205 RGD associated with Ureteral Obstruction; protein:increased expression:kidney (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:731438 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:31694585 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10914558 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731438 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25157968|PMID:26619011 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731438 D RGD:11532756|PMID:21059853 20160907 RGD mRNA:increased expression:promyelocyte: 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia onset ISO RGD:731438 D RGD:11532756|PMID:21059853 20160907 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease IEP D RGD:7207426|PMID:21119215 20130204 RGD mRNA:increased expression:kidney (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:10940 D RGD:7207451|PMID:9422539 20130205 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080600 COVID-19 ISO RGD:731438 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10940 D RGD:7207416|PMID:22120021 20130201 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:10940 D RGD:7207779|PMID:16449663 20130206 RGD mRNA:increased expression:kidney (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:731438 D RGD:7207447|PMID:19346236 20130205 RGD mRNA:increased expression:renal cortex (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10940 D RGD:7207453|PMID:3479800 20130205 RGD mRNA:increased expression:kidney (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer severity ISO RGD:731438 D RGD:7240541|PMID:20140016 20130215 RGD protein:increased expression:prostate gland (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer susceptibility ISO RGD:731438 D RGD:7207432|PMID:18483343 20130204 RGD DNA:snp:intron:IVS1-355T>A rs3891248 (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:731438 D RGD:11340590|PMID:20956327 20160906 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:731438 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:27993330|PMID:8220424 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:10940 D RGD:7207418|PMID:22028816 20130201 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731438 D RGD:7207427|PMID:20939013 20130204 RGD protein:decreased expression:urinary bladder urothelium (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731438 D RGD:7207401|PMID:23284801 20130131 RGD DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1107 esophageal carcinoma ISO RGD:731438 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25157968|PMID:26619011 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11132 prostatic hypertrophy treatment IDA D RGD:7240520|PMID:22684563 20130213 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11476 osteoporosis IDA D RGD:7240519|PMID:22704852 20130213 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:127 leiomyoma treatment IDA D RGD:6483544|PMID:22302692 20130218 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1324 lung cancer treatment ISO RGD:731438 D RGD:150530284|PMID:32051824 20211207 RGD human cells in mouse model 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:13543 hyperparathyroidism ISO RGD:731438 D RGD:7207778|PMID:17047023 20130206 RGD mRNA:increased expression:parathyroid gland (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11559025 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:26619011|PMID:8220424 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:731438 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer IEP D RGD:7241002|PMID:22614519 20130220 RGD protein:increased expression:mammary gland (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer ISS RGD:10940 D RGD:13592920 20180518 MouseDO OMIM:114480 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer severity ISO RGD:731438 D RGD:7207838|PMID:10706127 20130208 RGD DNA:amplification:exon (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:171 neuroectodermal tumor ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1749 squamous cell carcinoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1781 thyroid gland cancer ISO RGD:10940 D RGD:13825129|PMID:25246276 20181115 RGD mRNA:increased expression:thyroid (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:10940 D RGD:7240699|PMID:22024988 20130219 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25961927 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1883 hepatitis C ISO RGD:731438 D RGD:14695017|PMID:23108410 20190628 RGD mRNA,protein:increased expression:liver 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1936 atherosclerosis treatment ISO RGD:10940 D RGD:242905195|PMID:35854140 20230328 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:10940 D RGD:7207786|PMID:21983638 20130206 RGD protein:increased expression:kidney (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma severity ISO RGD:731438 D RGD:7207840|PMID:18260125 20130208 RGD mRNA:decreased expression:tumor (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2526 prostate adenocarcinoma ISO RGD:731438 D RGD:7207413|PMID:14522256 20130201 RGD human gene in mouse model 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2526 prostate adenocarcinoma ISO RGD:731438 D RGD:7207781|PMID:20195545 20130206 RGD human gene in mouse model 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:299 adenocarcinoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:10940 D RGD:7207407|PMID:23228991 20130201 RGD protein:decreased phosphorylation:kidney (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:305 carcinoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3213 demyelinating disease treatment ISO RGD:731438 D RGD:7240694|PMID:22076651 20130219 RGD human gene in rat model; DNA:missense mutation:cds:p.T58A (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3347 osteosarcoma ISO RGD:731438 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:34508303 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3672 rhabdoid cancer ISO RGD:731438 D RGD:7207430|PMID:20212451 20130204 RGD protein:increased expression:kidney (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3910 lung adenocarcinoma ISO RGD:731438 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:26656844|PMID:27602772 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3910 lung adenocarcinoma ISO RGD:731438 D RGD:7207787|PMID:20033209 20130206 RGD human cell line in mouse model 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3910 lung adenocarcinoma ISO RGD:731438 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25157968|PMID:26619011 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3965 Merkel cell carcinoma ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25277525 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731438 D RGD:13792605|PMID:28677753 20180917 RGD mRNA:increased expression:thyroid 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4247 coronary restenosis treatment IDA D RGD:10059621|PMID:7955204 20150820 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma IEP D RGD:7207841|PMID:18055543 20130208 RGD protein:increased expression:kidney (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:731438 D RGD:7207793|PMID:21982273 20130206 RGD mRNA:increased expression:kidney (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:731438 D RGD:7207420|PMID:21881486 20130201 RGD protein:increased expression:kidney (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4905 pancreatic carcinoma ISS RGD:10940 D RGD:13592920 20180518 MouseDO OMIM:260350 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:731438|RGD:10940 D RGD:14695015|PMID:23770341 20190628 RGD mRNA,protein:increased expression:liver 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5394 prolactinoma IEP D RGD:7240531|PMID:22635680 20130214 RGD mRNA:increased expression:pituitary gland (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:10940 D RGD:13793389|PMID:28089889 20181005 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:731438 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:731438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:6432 pulmonary hypertension treatment IDA D RGD:7240564|PMID:22306243 20130218 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:674 cleft palate ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma IEP D RGD:7240695|PMID:22076107 20130219 RGD mRNA:increased expression:liver (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:10940 D RGD:6903288|PMID:21644509 20130201 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:731438 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:9029167|PMID:12029619|PMID:15565109|PMID:29698666 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:731438 D RGD:7241004|PMID:22434528 20130220 RGD mRNA:increased expression:liver (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma treatment IDA D RGD:7240567|PMID:22129741 20130218 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:731438 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:8761367|PMID:34626302 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:731438 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25157968|PMID:26619011 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8567 Hodgkin's lymphoma ISO RGD:731438 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:10059619|PMID:8397370 20150820 RGD DNA:mutations:exons:multiple (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:1601453|PMID:8220424 20070420 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:7240710 20130221 OMIM 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:25157968|PMID:27993330|PMID:8220424 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8634 prostate carcinoma in situ ISO RGD:10940 D RGD:10059615|PMID:10861747 20150820 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8923 skin melanoma ISO RGD:731438 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25157968|PMID:26619011 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:10940 D RGD:7207457|PMID:18356167 20130205 RGD mRNA:increased expression:kidney (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000117 Esophageal Neoplasms treatment IDA D RGD:7207890|PMID:22844359 20130212 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17171786|PMID:21173787 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000918 Disease Progression ISO RGD:731438 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:22321834|PMID:28191284|PMID:34510316|PMID:34626302 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases disease_progression ISO RGD:731438 D RGD:14695016|PMID:26576483 20190628 RGD mRNA:increased expression:liver 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:10940 D RGD:14695016|PMID:26576483 20190628 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:10059623|PMID:3335218 20150820 RGD mRNA:increased expression:liver (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9079223|PMID:11280770|PMID:18560566 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001708 Hemorrhagic Shock treatment IDA D RGD:7240568|PMID:22113495 20130218 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731438 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:23704919|PMID:29295717|PMID:32512071 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731438 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:20852632|PMID:34510316 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189186|PMID:15059925|PMID:18283038|PMID:21081470 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms treatment IDA D RGD:7240527|PMID:22641368 20130213 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9003936 Cardiomegaly treatment IDA D RGD:7240700|PMID:22000973 20130219 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9004203 Chromosome Breakage ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25933419 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9004283 Transplant Rejection IMP D RGD:7240566|PMID:22149555 20130218 RGD cornea 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472269 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005100 Aberrant Crypt Foci treatment IDA D RGD:13432056|PMID:8449605 20170915 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:731438 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:28191284 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10940 D RGD:7240549|PMID:22384017 20130215 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7207459|PMID:18030501 20130205 RGD mRNA:increased expression:renal cortex (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries IEP D RGD:7240535|PMID:22546228 20130215 RGD mRNA:increased expression:carotid artery (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries treatment IDA D RGD:7207861|PMID:23178522 20130211 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries treatment IMP D RGD:10059612|PMID:8113414 20150820 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006205 Animal Disease Models ISO RGD:731438 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7207777|PMID:17220792 20130206 RGD mRNA:increased expression:kidney (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:7240537|PMID:22503847 20130215 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9007188 Liver Neoplasms ISO RGD:731438 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:8807143|PMID:11532874 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731438 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:2543982|PMID:12115494|PMID:29626521|PMID:31504995 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26656844 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:731438 D RGD:7240562|PMID:19384955 20130218 RGD mRNA:increased expression:renal cortex (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma severity ISO RGD:731438 D RGD:7240563|PMID:17409424 20130218 RGD protein:increased expression:kidney (human) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008138 Ductal Carcinoma ISO RGD:731438 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731438 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008691 Liver Injury IEP D RGD:7240702|PMID:21986297 20130219 RGD mRNA:increased expression:liver (rat) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:10940 D RGD:7207428|PMID:20820192 20130204 RGD mRNA:increased expression:mammary gland (mouse) 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms treatment IDA D RGD:7241009|PMID:22439659 20130220 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25956709 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9296 cleft lip ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9452 fatty liver disease ISO RGD:731438 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24210820 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731438 D RGD:11532748|PMID:25784651 20160906 RGD 3130 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9970 obesity IEP D RGD:7240547|PMID:22421529 20130215 RGD mRNA:decreased expression:pancreas (rat) 3134 Myf6 myogenic factor 6 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:731932 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:25741868|PMID:28492532 3134 Myf6 myogenic factor 6 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:11053684|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 3134 Myf6 myogenic factor 6 gene DOID:422 congenital structural myopathy ISO RGD:731932 D RGD:1600529|PMID:11053684 20070312 RGD centronuclear myopathy, OMIM:160150, DNA:point mutation:exon:A112S 3134 Myf6 myogenic factor 6 gene DOID:422 congenital structural myopathy ISO RGD:731932 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:25741868|PMID:28492532 3134 Myf6 myogenic factor 6 gene DOID:630 genetic disease ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3135 Myo1a myosin IA gene DOID:0110571 autosomal dominant nonsyndromic deafness 48 ISO RGD:1345169 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 48 PMID:12736868|PMID:24033266|PMID:24616153|PMID:25741868 3135 Myo1a myosin IA gene DOID:10003 sensorineural hearing loss ISO RGD:1345169 D RGD:1600218|PMID:12736868 20070305 RGD DFNA48, OMIM:607841 3135 Myo1a myosin IA gene DOID:10283 prostate cancer ISO RGD:1345169 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3135 Myo1a myosin IA gene DOID:630 genetic disease ISO RGD:1345169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868 3135 Myo1a myosin IA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1345169 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266 3136 Myh11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 3136 Myh11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 3136 Myh11 myosin heavy chain 11 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625 3136 Myh11 myosin heavy chain 11 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3136 Myh11 myosin heavy chain 11 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737424 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:25407000|PMID:25741868|PMID:31389005 3136 Myh11 myosin heavy chain 11 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737424 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:0080600 COVID-19 ISO RGD:737424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3136 Myh11 myosin heavy chain 11 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:737424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 3136 Myh11 myosin heavy chain 11 gene DOID:0112235 lissencephaly 4 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:12849 autistic disorder ISO RGD:737424 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3136 Myh11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:155883161|PMID:27418595 20230202 RGD DNA:mutation:cds:c.4599+1delG (human) 3136 Myh11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:1580903|PMID:16444274 19990101 RGD 3136 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:1580903|PMID:16444274 19990101 RGD 3136 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:7923625|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:7923625|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:14323 Marfan syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:25944730|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:1826 epilepsy ISO RGD:737424 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 3136 Myh11 myosin heavy chain 11 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 3136 Myh11 myosin heavy chain 11 gene DOID:3627 aortic aneurysm ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation PMID:22001912|PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737424 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 3136 Myh11 myosin heavy chain 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:737424 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 3136 Myh11 myosin heavy chain 11 gene DOID:520 aortic disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:5419 schizophrenia ISO RGD:737424 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3136 Myh11 myosin heavy chain 11 gene DOID:630 genetic disease ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625|PMID:8316857|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:6420 pulmonary valve stenosis ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:65 connective tissue disease ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26792327|PMID:27153395|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29907982|PMID:29961567|PMID:32238909|PMID:32368696|PMID:7923625|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:7693 abdominal aortic aneurysm ISO RGD:737424 D RGD:13782270|PMID:30004237 20180831 RGD protein:increased expression:plasma 3136 Myh11 myosin heavy chain 11 gene DOID:8445 intestinal volvulus ISO RGD:737424 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 3136 Myh11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:7240710 20130731 OMIM 3136 Myh11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:10199307|PMID:10854329|PMID:11249915|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:27884122|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28367076|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29179725|PMID:29441698|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32081817|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35535697|PMID:7923625|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:737424 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 3136 Myh11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 3136 Myh11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30739908|PMID:30885847|PMID:32238909|PMID:33726816|PMID:7923625|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:25944730|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:9007096 Stroke ISO RGD:737424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 3136 Myh11 myosin heavy chain 11 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 3136 Myh11 myosin heavy chain 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:737424 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 3136 Myh11 myosin heavy chain 11 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:33726816|PMID:7923625 3136 Myh11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 3136 Myh11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30739908|PMID:30885847|PMID:31389005|PMID:32238909|PMID:33726816|PMID:7923625|PMID:9536098 3136 Myh11 myosin heavy chain 11 gene DOID:9119 acute myeloid leukemia ISO RGD:737424 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 3137 Myh13 myosin heavy chain 13 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:737050 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 3137 Myh13 myosin heavy chain 13 gene DOID:630 genetic disease ISO RGD:737050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3137 Myh13 myosin heavy chain 13 gene DOID:8398 osteoarthritis ISO RGD:737050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 3138 Myh3 myosin heavy chain 3 gene DOID:0050646 distal arthrogryposis ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868|PMID:28492532 3138 Myh3 myosin heavy chain 3 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 3138 Myh3 myosin heavy chain 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 3138 Myh3 myosin heavy chain 3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:7240710 20171011 OMIM 3138 Myh3 myosin heavy chain 3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A PMID:17576681|PMID:18414213|PMID:18470895|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28492532|PMID:29314551|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:7240710 20190911 OMIM 3138 Myh3 myosin heavy chain 3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B PMID:17576681|PMID:18414213|PMID:25741868|PMID:25741870|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731491 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 3138 Myh3 myosin heavy chain 3 gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:731491 D RGD:12792960|PMID:18695058 20170316 RGD DNA:missense mutation:exon:p.A234T (769C>T) (human) 3138 Myh3 myosin heavy chain 3 gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:16642020|PMID:17576681|PMID:18414213|PMID:19142688|PMID:25741868|PMID:28492532|PMID:28779239|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:7240710 20190626 OMIM 3138 Myh3 myosin heavy chain 3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) PMID:16642020|PMID:18414213|PMID:18695058|PMID:25256237|PMID:25741868|PMID:26578207|PMID:28492532|PMID:29625835|PMID:29805041|PMID:30826400|PMID:31030430 3138 Myh3 myosin heavy chain 3 gene DOID:0111604 Freeman-Sheldon syndrome ISO RGD:731491 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 3138 Myh3 myosin heavy chain 3 gene DOID:0111604 Freeman-Sheldon syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome PMID:16642020|PMID:17576681|PMID:18414213|PMID:18695058|PMID:19142688|PMID:20924721|PMID:23265383|PMID:25256237|PMID:25740846|PMID:25741868|PMID:26945064|PMID:26996280|PMID:28492532|PMID:28584669|PMID:29805041|PMID:30379605|PMID:30826400|PMID:31030430|PMID:32732226|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:7240710 20200205 OMIM 3138 Myh3 myosin heavy chain 3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) PMID:16642020|PMID:17576681|PMID:18695058|PMID:25256237|PMID:25741868|PMID:28492532|PMID:29805041|PMID:30826400|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 3138 Myh3 myosin heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532|PMID:31030430 3138 Myh3 myosin heavy chain 3 gene DOID:1826 epilepsy ISO RGD:731491 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 3138 Myh3 myosin heavy chain 3 gene DOID:630 genetic disease ISO RGD:731491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642020|PMID:18695058|PMID:23401156|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28205584|PMID:28492532|PMID:291935|PMID:29805041|PMID:30008475 3138 Myh3 myosin heavy chain 3 gene DOID:9000884 Rhabdomyolysis ISO RGD:731491 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:16642020|PMID:25741868|PMID:28492532|PMID:28779239 3139 Myh4 myosin heavy chain 4 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1323747 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 3139 Myh4 myosin heavy chain 4 gene DOID:11446 sciatic neuropathy treatment IEP D RGD:9686059|PMID:14973145 20150128 RGD 3139 Myh4 myosin heavy chain 4 gene DOID:630 genetic disease ISO RGD:1323747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3139 Myh4 myosin heavy chain 4 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:9686065|PMID:25060722 20150129 RGD associated with Heart Failure;protein:decreased expression:diaphragm 3140 Myh9 myosin, heavy chain 9 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732401 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3140 Myh9 myosin, heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:12798509|PMID:18716610 20170322 RGD DNA:SNPs 3140 Myh9 myosin, heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:12798511|PMID:19891592 20170322 RGD DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) 3140 Myh9 myosin, heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:12798512|PMID:19320731 20170322 RGD DNA:SNP, haplotype: :rs7078 (human) 3140 Myh9 myosin, heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:12798514|PMID:17337617 20170322 RGD DNA:SNPs: :rs3752462, rs2009930 (human) 3140 Myh9 myosin, heavy chain 9 gene DOID:0050758 metabolic acidosis IEP D RGD:7243154|PMID:22357915 20170324 RGD protein:increased expression:brush border membrane 3140 Myh9 myosin, heavy chain 9 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:0050938 breast lobular carcinoma ISO RGD:732401 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:11532766|PMID:16806139 20160907 RGD DNA:mutation:exon:p.E1841K(human) 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:10973259|PMID:11590545|PMID:12621333 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:11554173 20180904 CTD CTD Direct Evidence: marker/mechanism PMID:12621333 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:6902926|PMID:11935325 20120924 RGD DNA:missense mutation:exon:p.R702H(human) 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:6903235|PMID:11752022 20120926 RGD DNA:missense mutations:exons:multiple 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:7240710 20160907 OMIM 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome PMID:10603121|PMID:10739770|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11093280|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12237319|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:15613099|PMID:15667538|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:16978745|PMID:17146397|PMID:17576681|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19450438|PMID:19557653|PMID:19967157|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23123319|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24123792|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24875298|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:27610647|PMID:28059092|PMID:28492532|PMID:28983057|PMID:29090586|PMID:29532554|PMID:29679756|PMID:29782633|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:31308072|PMID:31555371|PMID:31562665|PMID:31937884|PMID:31977897|PMID:32100410|PMID:32545517|PMID:32604935|PMID:32746448|PMID:33004838|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828|PMID:9536098 3140 Myh9 myosin, heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732402 D RGD:11533924|PMID:23976996 20160912 RGD DNA:mutation:cds:p.R702C(mouse) 3140 Myh9 myosin, heavy chain 9 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:732401 D RGD:6902925|PMID:12500226 20120924 RGD DNA:missense mutation:exon:4270G>C,D1424H (human) 3140 Myh9 myosin, heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:7240710 20160907 OMIM 3140 Myh9 myosin, heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19557653|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828 3140 Myh9 myosin, heavy chain 9 gene DOID:0110754 type 1 diabetes mellitus 17 ISO RGD:732401 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 PMID:25741868 3140 Myh9 myosin, heavy chain 9 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:10003 sensorineural hearing loss disease_progression ISO RGD:732401 D RGD:11533922|PMID:26226608 20160912 RGD associated with MYH9-Related Disorders;DNA:mutations:cds: 3140 Myh9 myosin, heavy chain 9 gene DOID:1073 renal hypertension ISO RGD:732401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794856 3140 Myh9 myosin, heavy chain 9 gene DOID:10983 Alport syndrome ISO RGD:732401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10973259 3140 Myh9 myosin, heavy chain 9 gene DOID:1184 nephrotic syndrome ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794856 3140 Myh9 myosin, heavy chain 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732402 D RGD:6903254|PMID:21402784 20120927 RGD 3140 Myh9 myosin, heavy chain 9 gene DOID:1588 thrombocytopenia ISO RGD:732401 D RGD:1600553|PMID:10973259 20070314 RGD May-Hegglin anomaly, OMIM:155100, DNA:point mutation:exon:R1933X 3140 Myh9 myosin, heavy chain 9 gene DOID:1588 thrombocytopenia ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10973259|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29090586|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:34355501 3140 Myh9 myosin, heavy chain 9 gene DOID:2213 hemorrhagic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10739770|PMID:10973259|PMID:10973260|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:20301740|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29090586|PMID:30916803|PMID:32100410|PMID:32545517 3140 Myh9 myosin, heavy chain 9 gene DOID:2921 glomerulonephritis ISO RGD:732401 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 3140 Myh9 myosin, heavy chain 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732402 D RGD:6903274|PMID:22313957 20120928 RGD protein:decreased expression:glomerulus 3140 Myh9 myosin, heavy chain 9 gene DOID:557 kidney disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 3140 Myh9 myosin, heavy chain 9 gene DOID:576 proteinuria ISO RGD:732401 D RGD:6903258|PMID:21910715 20120927 RGD associated with anemia, sickle cell:DNA:SNPs: : 3140 Myh9 myosin, heavy chain 9 gene DOID:576 proteinuria ISO RGD:732401 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 3140 Myh9 myosin, heavy chain 9 gene DOID:576 proteinuria disease_progression ISO RGD:732401 D RGD:6903242|PMID:20200500 20120926 RGD associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human) 3140 Myh9 myosin, heavy chain 9 gene DOID:630 genetic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794854|PMID:18794856 3140 Myh9 myosin, heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:6903237|PMID:18794854 20120926 RGD associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human) 3140 Myh9 myosin, heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:6903238|PMID:19567477 20120926 RGD associated with diabetes mellitus,type 2;DNA:SNPs: : 3140 Myh9 myosin, heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:6903239|PMID:19177153 20120926 RGD associated with hypertension;DNA:polymorphisms:multiple: 3140 Myh9 myosin, heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:6903243|PMID:20144966 20120926 RGD DNA:SNPs:multiple: 3140 Myh9 myosin, heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:6903256|PMID:21968013 20120927 RGD associated with diabetes mellitus, type 2;DNA:SNPs: : 3140 Myh9 myosin, heavy chain 9 gene DOID:784 chronic kidney disease no_association ISO RGD:732401 D RGD:12798515|PMID:22956460 20170322 RGD 3140 Myh9 myosin, heavy chain 9 gene DOID:9001542 Albuminuria ISO RGD:732401 D RGD:6903241|PMID:19153477 20120926 RGD associated with hypertension;DNA:SNPs: : 3140 Myh9 myosin, heavy chain 9 gene DOID:9002631 Vitelliform Macular Dystrophy 1 ISO RGD:732401 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 PMID:24033266|PMID:24130771|PMID:25077172|PMID:26467025|PMID:28492532|PMID:30720677 3140 Myh9 myosin, heavy chain 9 gene DOID:9004538 Hearing Loss ISO RGD:732401 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18059020|PMID:24033266|PMID:28492532|PMID:30311386|PMID:30872814 3140 Myh9 myosin, heavy chain 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732401 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 3140 Myh9 myosin, heavy chain 9 gene DOID:9005875 Giant Platelet Syndrome with Thrombocytopenia ISO RGD:732401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23207509|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26387855|PMID:26467025|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:33532864|PMID:34355501|PMID:5011389|PMID:8280620|PMID:9390828 3140 Myh9 myosin, heavy chain 9 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11533926|PMID:11003588 20160912 RGD protein:increased expression:carotid artery: 3140 Myh9 myosin, heavy chain 9 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732401 D RGD:11533925|PMID:11023810 20160912 RGD DNA:mutation:cds:p.R705H(human) 3140 Myh9 myosin, heavy chain 9 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732401 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:28492532 3140 Myh9 myosin, heavy chain 9 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:732401 D RGD:6903274|PMID:22313957 20120928 RGD protein:decreased expression:glomerulus 3140 Myh9 myosin, heavy chain 9 gene DOID:9008939 Breast Neoplasms ISO RGD:732401 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 3140 Myh9 myosin, heavy chain 9 gene DOID:9970 obesity ISO RGD:732401 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:31064749 3141 Myl11 myosin light chain 11 gene DOID:0050646 distal arthrogryposis ISO RGD:1603646 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:32707087 3141 Myl11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:7240710 20201223 OMIM 3141 Myl11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C PMID:25741868|PMID:32707087 3141 Myl11 myosin light chain 11 gene DOID:630 genetic disease ISO RGD:1603646 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3142 Myl3 myosin light chain 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:736456 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532 3142 Myl3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26385864|PMID:26443374|PMID:26633542|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:31110529|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32906206|PMID:33087929|PMID:33407484|PMID:33726816|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type 3142 Myl3 myosin light chain 3 gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type 3142 Myl3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:33673806|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31554435|PMID:31618753|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:35629155|PMID:35653365|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:7240710 20130425 OMIM 3142 Myl3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:24911555|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:6211078|PMID:8673105|PMID:9536098 3142 Myl3 myosin light chain 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:08673105|PMID:17142342|PMID:22131351|PMID:22958901|PMID:23054336|PMID:23283745|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29253866|PMID:29709087|PMID:31110529|PMID:8673105 3142 Myl3 myosin light chain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20031618|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:21896538|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33726816|PMID:34426522|PMID:35629155|PMID:35653365|PMID:6211078|PMID:8673105|PMID:9536098 3142 Myl3 myosin light chain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:736456 D RGD:8554872 20200519 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24111713|PMID:25132132|PMID:25741868|PMID:27532257|PMID:28492532 3142 Myl3 myosin light chain 3 gene DOID:630 genetic disease ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3142 Myl3 myosin light chain 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:736456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 3142 Myl3 myosin light chain 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness PMID:16754800|PMID:22958901|PMID:23549607|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30665703|PMID:33495597|PMID:35653365 3143 Myo5a myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:7240710 20130221 OMIM 3143 Myo5a myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 1 PMID:10704277|PMID:12058346|PMID:17576681|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32275080|PMID:9207796|PMID:9536098 3143 Myo5a myosin VA gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:731453 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:22711375|PMID:25283056 3143 Myo5a myosin VA gene DOID:1059 intellectual disability ISO RGD:731453 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 3143 Myo5a myosin VA gene DOID:2717 Bloom syndrome ISO RGD:731453 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3143 Myo5a myosin VA gene DOID:543 dystonia ISO RGD:731453 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dystonic disorder 3143 Myo5a myosin VA gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731453 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3143 Myo5a myosin VA gene DOID:574 peripheral nervous system disease ISO RGD:731453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 3143 Myo5a myosin VA gene DOID:607 paraplegia ISO RGD:731453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 3143 Myo5a myosin VA gene DOID:630 genetic disease ISO RGD:731453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3143 Myo5a myosin VA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3143 Myo5a myosin VA gene DOID:9005835 Congenital Abnormalities no_association ISO RGD:731453 D RGD:1600821|PMID:12058346 20070327 RGD Griscelli syndrome type I. OMIM:214450 3143 Myo5a myosin VA gene DOID:9256 colorectal cancer ISO RGD:731453 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3144 Myo1e myosin IE gene DOID:0080600 COVID-19 ISO RGD:1350355 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3144 Myo1e myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:7240710 20140911 OMIM 3144 Myo1e myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:17576681|PMID:21756023|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 3144 Myo1e myosin IE gene DOID:0111365 benign familial hematuria ISO RGD:1350355 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:25741868|PMID:28492532 3144 Myo1e myosin IE gene DOID:1184 nephrotic syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29127259 3144 Myo1e myosin IE gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350355 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3144 Myo1e myosin IE gene DOID:2717 Bloom syndrome ISO RGD:1350355 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3144 Myo1e myosin IE gene DOID:5419 schizophrenia ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 3144 Myo1e myosin IE gene DOID:557 kidney disease ISO RGD:1350355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:24033266|PMID:25741868|PMID:28492532 3144 Myo1e myosin IE gene DOID:630 genetic disease ISO RGD:1350355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3144 Myo1e myosin IE gene DOID:9256 colorectal cancer ISO RGD:1350355 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3146 Myo9b myosin IXb gene DOID:10608 celiac disease ISO RGD:736717 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3146 Myo9b myosin IXb gene DOID:10608 celiac disease ISO RGD:736717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 PMID:15822038|PMID:16282976|PMID:25741868|PMID:28492532 3146 Myo9b myosin IXb gene DOID:10608 celiac disease susceptibility ISO RGD:736717 D RGD:7240710 20190502 OMIM 3146 Myo9b myosin IXb gene DOID:630 genetic disease ISO RGD:736717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3146 Myo9b myosin IXb gene DOID:9005539 Familial Prostate Cancer ISO RGD:736717 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 3148 Bex3 brain expressed X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735398 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3148 Bex3 brain expressed X-linked 3 gene DOID:11832 visual epilepsy treatment IEP D RGD:9743975|PMID:12873743 20150224 RGD 3148 Bex3 brain expressed X-linked 3 gene DOID:12849 autistic disorder ISO RGD:735398 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3148 Bex3 brain expressed X-linked 3 gene DOID:1686 glaucoma IEP D RGD:9743977|PMID:19682984 20150224 RGD mRNA:decreased expression:retina 3148 Bex3 brain expressed X-linked 3 gene DOID:224 transient cerebral ischemia IEP D RGD:9743974|PMID:11124986 20150224 RGD 3148 Bex3 brain expressed X-linked 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:735398 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 3148 Bex3 brain expressed X-linked 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735398 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay 3151 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0060369 Parkinson's disease 6 ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 3151 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736912 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3151 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0080543 hyperprolinemia type 2 ISO RGD:736912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 3151 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 3151 Nbl1 NBL1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:736912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3151 Nbl1 NBL1, DAN family BMP antagonist gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 3153 Ncl nucleolin gene DOID:0060476 Perlman syndrome ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 3153 Ncl nucleolin gene DOID:0110991 Joubert syndrome 22 ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 3153 Ncl nucleolin gene DOID:3910 lung adenocarcinoma ISO RGD:1342988 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3153 Ncl nucleolin gene DOID:630 genetic disease ISO RGD:1342988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3153 Ncl nucleolin gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9686390|PMID:24608397 20150205 RGD protein:increased expression:heart 3153 Ncl nucleolin gene DOID:9006205 Animal Disease Models ISO RGD:1342988 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3153 Ncl nucleolin gene DOID:9007102 Myocardial Ischemia ISO RGD:1342988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3153 Ncl nucleolin gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:9686384|PMID:23594402 20150205 RGD protein:decreased expression:heart 3155 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:731254|RGD:735249 D RGD:13801191|PMID:19760337 20181102 RGD 3155 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735249 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3155 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:9004001 Facial Nerve Injuries IEP D RGD:2302319|PMID:8875451 20081212 RGD mRNA:increased expression:skeletal muscle 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732792 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0060536 mitochondrial complex I deficiency ISS RGD:737515 D RGD:13592920 20190214 MouseDO OMIM:252010 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:7240710 20190315 OMIM 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:15372108|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:9536098 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732792 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:2349 arteriosclerosis IEP D RGD:2302364|PMID:16620292 20081215 RGD protein:increased expression:aorta 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:4362 cervical cancer disease_progression ISO RGD:732792 D RGD:2302384|PMID:18559093 20081215 RGD DNA, mRNA:amplification, increased expression:uterine cervix 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:630 genetic disease ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372108|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 3156 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:732792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:11054 urinary bladder cancer ISO RGD:736612 D RGD:2302550|PMID:17726579 20081229 RGD 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:2717 Bloom syndrome ISO RGD:736612 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:736612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:767 muscular atrophy IEP D RGD:7242174|PMID:19125695 20130327 RGD protein:increased expression:gastrocnemius 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9000058 Keloid ISO RGD:736612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736612 D RGD:2302550|PMID:17726579 20081229 RGD 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9007102 Myocardial Ischemia ISO RGD:736612 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3157 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9256 colorectal cancer ISO RGD:736612 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 3158 Nedd8 NEDD8 ubiquitin like modifier gene DOID:0060439 lysinuric protein intolerance ISO RGD:735521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 3158 Nedd8 NEDD8 ubiquitin like modifier gene DOID:14330 Parkinson's disease ISO RGD:735521 D RGD:1549458|PMID:12533840 20150204 RGD 3158 Nedd8 NEDD8 ubiquitin like modifier gene DOID:3069 malignant astrocytoma ISO RGD:735521 D RGD:1549458|PMID:12533840 20150204 RGD 3158 Nedd8 NEDD8 ubiquitin like modifier gene DOID:9000265 Specific Granule Deficiency ISO RGD:735521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 3158 Nedd8 NEDD8 ubiquitin like modifier gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735521 D RGD:1549458|PMID:12533840 20150204 RGD 3158 Nedd8 NEDD8 ubiquitin like modifier gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3159 Nefh neurofilament heavy chain gene DOID:0040089 autoimmune optic neuritis severity ISO RGD:736723 D RGD:27226805|PMID:23316360 20200526 RGD 3159 Nefh neurofilament heavy chain gene DOID:0050328 congenital hypothyroidism IDA D RGD:9693732|PMID:18845185 20150212 RGD protein:decreased expression, increased phosphorylation 3159 Nefh neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868|PMID:28492532 3159 Nefh neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:736723 D RGD:7240710 20230517 OMIM 3159 Nefh neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC PMID:25741868|PMID:27040688|PMID:28492532|PMID:29587262|PMID:30992180 3159 Nefh neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC susceptibility ISO RGD:736723 D RGD:7240710 20230517 OMIM 3159 Nefh neurofilament heavy chain gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:736723 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:25741868 3159 Nefh neurofilament heavy chain gene DOID:0111252 neurofibromatosis 2 ISO RGD:736723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 3159 Nefh neurofilament heavy chain gene DOID:11260 rabies ISO RGD:10969 D RGD:27226884|PMID:29509660 20200527 RGD protein:increased expression:spinal cord: 3159 Nefh neurofilament heavy chain gene DOID:11446 sciatic neuropathy IEP D RGD:9693730|PMID:3135913 20150212 RGD 3159 Nefh neurofilament heavy chain gene DOID:11446 sciatic neuropathy treatment IEP D RGD:9743941|PMID:12445968 20150223 RGD 3159 Nefh neurofilament heavy chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736723 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF (human) 3159 Nefh neurofilament heavy chain gene DOID:1210 optic neuritis ISO RGD:736723 D RGD:27226813|PMID:29085182 20200526 RGD protein:increased expression:serum: 3159 Nefh neurofilament heavy chain gene DOID:1210 optic neuritis severity ISO RGD:736723 D RGD:27226814|PMID:15258226 20200526 RGD 3159 Nefh neurofilament heavy chain gene DOID:1459 hypothyroidism treatment IEP D RGD:9743942|PMID:10439464 20150223 RGD 3159 Nefh neurofilament heavy chain gene DOID:1686 glaucoma IEP D RGD:27226819|PMID:28498493 20200526 RGD protein:decreased expression:optic nerve: 3159 Nefh neurofilament heavy chain gene DOID:224 transient cerebral ischemia IEP D RGD:9743938|PMID:8726968 20150223 RGD protein:decreased expression:hippocampus 3159 Nefh neurofilament heavy chain gene DOID:2377 multiple sclerosis severity ISO RGD:736723 D RGD:27226808|PMID:16764346 20200526 RGD 3159 Nefh neurofilament heavy chain gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:736723 D RGD:27226879|PMID:15222692 20200527 RGD 3159 Nefh neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736723 D RGD:1302518|PMID:9931323 19990101 RGD DNA:deletions:cds:multiple (human) 3159 Nefh neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 3159 Nefh neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10969 D RGD:13525000|PMID:10686419 20180502 RGD 3159 Nefh neurofilament heavy chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10969 D RGD:27226878|PMID:29967576 20201208 RGD 3159 Nefh neurofilament heavy chain gene DOID:574 peripheral nervous system disease ISO RGD:736723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10447555 3159 Nefh neurofilament heavy chain gene DOID:574 peripheral nervous system disease ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 3159 Nefh neurofilament heavy chain gene DOID:630 genetic disease ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23056405|PMID:25741868|PMID:27040688|PMID:28492532|PMID:28709447|PMID:28717666|PMID:29587262|PMID:30992180|PMID:33589474|PMID:9536098 3159 Nefh neurofilament heavy chain gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:736723 D RGD:9693726|PMID:12536221 20150212 RGD associated with Peripheral Nervous System Diseases 3159 Nefh neurofilament heavy chain gene DOID:870 neuropathy ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 3159 Nefh neurofilament heavy chain gene DOID:8869 neuromyelitis optica ISO RGD:736723 D RGD:27226805|PMID:23316360 20200526 RGD protein:increased expression:serum: 3159 Nefh neurofilament heavy chain gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:9698443|PMID:18772508 20150216 RGD 3159 Nefh neurofilament heavy chain gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:27226888|PMID:32168135 20200527 RGD 3159 Nefh neurofilament heavy chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736723 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF (human) 3159 Nefh neurofilament heavy chain gene DOID:9001767 Unilateral Hearing Loss disease_progression IEP D RGD:27372873|PMID:27457532 20200528 RGD 3159 Nefh neurofilament heavy chain gene DOID:9002211 Hyperalgesia treatment IEP D RGD:27226885|PMID:21071147 20200527 RGD 3159 Nefh neurofilament heavy chain gene DOID:9002498 Wallerian Degeneration IEP D RGD:9698439|PMID:10646539 20150216 RGD protein:decreased expression:neuron 3159 Nefh neurofilament heavy chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:736723 D RGD:27226816|PMID:31313506 20200526 RGD 3159 Nefh neurofilament heavy chain gene DOID:9003740 Nerve Injuries treatment IEP D RGD:27226886|PMID:24269493 20200527 RGD 3159 Nefh neurofilament heavy chain gene DOID:9004484 Sepsis severity ISO RGD:736723 D RGD:27226881|PMID:30677080 20200527 RGD 3159 Nefh neurofilament heavy chain gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9698428|PMID:12941778 20150213 RGD 3159 Nefh neurofilament heavy chain gene DOID:9006380 Bilateral Hearing Loss disease_progression IEP D RGD:27372873|PMID:27457532 20200528 RGD 3159 Nefh neurofilament heavy chain gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:10969 D RGD:27226817|PMID:12742652 20200526 RGD protein:decreased expression:spinal cord: 3159 Nefh neurofilament heavy chain gene DOID:9007842 Sepsis-Associated Encephalopathy severity ISO RGD:736723 D RGD:27226881|PMID:30677080 20200527 RGD 3159 Nefh neurofilament heavy chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 3159 Nefh neurofilament heavy chain gene DOID:9281 phenylketonuria IEP D RGD:9693700|PMID:7507064 20150211 RGD protein:decreased expression:brain 3160 Nefm neurofilament medium chain gene DOID:0050328 congenital hypothyroidism IDA D RGD:9693732|PMID:18845185 20150212 RGD protein:decreased expression, increased phosphorylation 3160 Nefm neurofilament medium chain gene DOID:10652 Alzheimer's disease ISO RGD:735476 D RGD:9743945|PMID:17687114 20150223 RGD protein:decreased glycosylation:cerebral cortex 3160 Nefm neurofilament medium chain gene DOID:11446 sciatic neuropathy IEP D RGD:9693730|PMID:3135913 20201207 RGD 3160 Nefm neurofilament medium chain gene DOID:11446 sciatic neuropathy IEP D RGD:9743948|PMID:12638730 20150223 RGD associated with Diabetes Mellitus, Type 1 3160 Nefm neurofilament medium chain gene DOID:11446 sciatic neuropathy treatment IEP D RGD:9743941|PMID:12445968 20150223 RGD 3160 Nefm neurofilament medium chain gene DOID:1459 hypothyroidism treatment IEP D RGD:9743942|PMID:10439464 20150223 RGD 3160 Nefm neurofilament medium chain gene DOID:224 transient cerebral ischemia IEP D RGD:9743938|PMID:8726968 20150223 RGD protein:decreased expression:hippocampus 3160 Nefm neurofilament medium chain gene DOID:289 endometriosis ISO RGD:735476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 3160 Nefm neurofilament medium chain gene DOID:332 amyotrophic lateral sclerosis IGI RGD:730855 D RGD:9698444|PMID:16006557 20150216 RGD 3160 Nefm neurofilament medium chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10970 D RGD:27226878|PMID:29967576 20201208 RGD protein:altered expression:brain 3160 Nefm neurofilament medium chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735476 D RGD:40886309|PMID:26033855 20201207 RGD protein:increased serine/threonine phosphorylation:brain 3160 Nefm neurofilament medium chain gene DOID:630 genetic disease ISO RGD:735476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3160 Nefm neurofilament medium chain gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:9698443|PMID:18772508 20150216 RGD 3160 Nefm neurofilament medium chain gene DOID:9002498 Wallerian Degeneration IEP D RGD:9698439|PMID:10646539 20150216 RGD protein:decreased expression:neuron 3160 Nefm neurofilament medium chain gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9698428|PMID:12941778 20150213 RGD 3160 Nefm neurofilament medium chain gene DOID:9005695 Malnutrition IEP D RGD:40902817|PMID:1908892 20201210 RGD protein:increased expression:cerebral cortex 3160 Nefm neurofilament medium chain gene DOID:9008091 Optic Nerve Injuries IEP D RGD:9743936|PMID:8501527 20150223 RGD 3162 Nes nestin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 3162 Nes nestin gene DOID:0111940 immunodeficiency 42 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3162 Nes nestin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3162 Nes nestin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3162 Nes nestin gene DOID:1540 parathyroid carcinoma ISO RGD:737242 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3162 Nes nestin gene DOID:2316 brain ischemia IEP D RGD:1642071|PMID:17697621 20070831 RGD protein:increased expression:hippocampus 3162 Nes nestin gene DOID:2527 nephrosis IEP D RGD:1642072|PMID:17637254 20070831 RGD mRNA, protein:increased expression:glomerulus 3162 Nes nestin gene DOID:2527 nephrosis ISO RGD:737242 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 3162 Nes nestin gene DOID:3021 acute kidney failure IEP D RGD:11570523|PMID:24503548 20161221 RGD 3162 Nes nestin gene DOID:3454 brain infarction IEP D RGD:1642069|PMID:16321245 20070831 RGD associated with Hypertension 3162 Nes nestin gene DOID:5812 MHC class II deficiency ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3162 Nes nestin gene DOID:630 genetic disease ISO RGD:737242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3162 Nes nestin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737242 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16137769 3162 Nes nestin gene DOID:9001004 Chronic Periodontitis ISO RGD:737242 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:decreased expression:gingival tissues (human) 3162 Nes nestin gene DOID:9004009 Reperfusion Injury IEP D RGD:1642074|PMID:17569338 20070831 RGD protein:increased expression:cerebral cortex 3162 Nes nestin gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11570523|PMID:24503548 20161221 RGD 3162 Nes nestin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737242 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3163 Neu1 neuraminidase 1 gene DOID:0050553 JMP syndrome ISO RGD:735984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3163 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:28492532|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 3163 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 3163 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30548430|PMID:30941624|PMID:31711734|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33121223|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 3163 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISS RGD:735984 D RGD:13592920 20180518 MouseDO OMIM:256550 3163 Neu1 neuraminidase 1 gene DOID:630 genetic disease ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21214877|PMID:24767253|PMID:25153125|PMID:25323282|PMID:27848944|PMID:28492532 3163 Neu1 neuraminidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 3163 Neu1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:7240710 20130221 OMIM 3163 Neu1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:17576681|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:32453490|PMID:32485644|PMID:33121223|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 3163 Neu1 neuraminidase 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:735984 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fetal edema 3164 Neu2 neuraminidase 2 gene DOID:0060476 Perlman syndrome ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 3164 Neu2 neuraminidase 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 3164 Neu2 neuraminidase 2 gene DOID:630 genetic disease ISO RGD:736190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3165 Neurod1 neuronal differentiation 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731467 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868|PMID:28492532 3165 Neurod1 neuronal differentiation 1 gene DOID:0110746 type 1 diabetes mellitus 7 ISS RGD:735545 D RGD:13592920 20180518 MouseDO OMIM:600321 3165 Neurod1 neuronal differentiation 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868 3165 Neurod1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 ISO RGD:731467 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3165 Neurod1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 ISO RGD:731467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6 PMID:10545951|PMID:12639765|PMID:16321269|PMID:18414213|PMID:25041077|PMID:25741868|PMID:27420379|PMID:28095440|PMID:28492532|PMID:28664602|PMID:30191644|PMID:30259503|PMID:34556497 3165 Neurod1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 susceptibility ISO RGD:731467 D RGD:7240710 20230510 OMIM 3165 Neurod1 neuronal differentiation 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731467 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 3165 Neurod1 neuronal differentiation 1 gene DOID:10603 glucose intolerance susceptibility ISO RGD:731467 D RGD:1601481|PMID:15277395 20070517 RGD DNA:polymorphism: :p.A45T (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:4195 hyperglycemia ISO RGD:731467 D RGD:2313477|PMID:18811724 20090929 RGD DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:731467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3165 Neurod1 neuronal differentiation 1 gene DOID:863 nervous system disease ISO RGD:731467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 3165 Neurod1 neuronal differentiation 1 gene DOID:9002188 Hypoinsulinemia ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532 3165 Neurod1 neuronal differentiation 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3165 Neurod1 neuronal differentiation 1 gene DOID:9351 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532|PMID:30259503 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:2313478|PMID:18331410 20090929 RGD associated with Obesity;DNA:missense mutation: :p.H241Q (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:2313480|PMID:17440689 20090929 RGD DNA:missense mutation: :p.S159P (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:2313488|PMID:11719843 20090929 RGD DNA:missense mutation: :p.E110K (human 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:2313489|PMID:10545951 20090929 RGD DNA:missense mutation, nonsense mutation (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731467 D RGD:2313486|PMID:15592940 20090929 RGD DNA:polymorphism: :p.A45T (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731467 D RGD:2313482|PMID:16773428 20090929 RGD DNA:polymorphism: :p.A45T (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731467 D RGD:7240710 20230510 OMIM 3165 Neurod1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731467 D RGD:2313483|PMID:16357810 20090929 RGD DNA:polymorphism: :p.A45T (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:2313481|PMID:16909454 20090929 RGD DNA:polymorphism:exon 3165 Neurod1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:2313487|PMID:15047635 20090929 RGD DNA:polymorphism: :p.A45T (human) 3165 Neurod1 neuronal differentiation 1 gene DOID:9970 obesity ISO RGD:731467 D RGD:1625044|PMID:15979049 20070517 RGD mRNA:increased expression:pancreas 3166 Neurod2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:7240710 20190424 OMIM 3166 Neurod2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 PMID:25741868|PMID:30323019 3166 Neurod2 neuronal differentiation 2 gene DOID:630 genetic disease ISO RGD:1344395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3167 Neurog1 neurogenin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3167 Neurog1 neurogenin 1 gene DOID:630 genetic disease ISO RGD:1352814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3167 Neurog1 neurogenin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352814 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3167 Neurog1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 3167 Neurog1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22315502|PMID:26457647|PMID:26457648 3168 Nf1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:7240710 20130221 OMIM 3168 Nf1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10336779|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10874316|PMID:11258625|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15846561|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16944272|PMID:17406642|PMID:17426081|PMID:18183640|PMID:18546366|PMID:19076627|PMID:19120036|PMID:19142971|PMID:20301288|PMID:21278392|PMID:22034633|PMID:22155606|PMID:22190595|PMID:22965773|PMID:23460398|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24789688|PMID:24922668|PMID:25324867|PMID:25370043|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25925892|PMID:26056819|PMID:26088551|PMID:26178382|PMID:26467025|PMID:26509978|PMID:26706011|PMID:26740943|PMID:26969325|PMID:27074763|PMID:27322474|PMID:27838393|PMID:28422438|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29926981|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31533797|PMID:31717729|PMID:31766501|PMID:32581362|PMID:33046013|PMID:33540839|PMID:36988593|PMID:7655472|PMID:7981679|PMID:9042399|PMID:9180088|PMID:9463322|PMID:9639526|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:0050771 pheochromocytoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11151443 3168 Nf1 neurofibromin 1 gene DOID:0050771 pheochromocytoma ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 3168 Nf1 neurofibromin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737471 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30763456 3168 Nf1 neurofibromin 1 gene DOID:0060320 inguinal hernia ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:10712197|PMID:23656349|PMID:23913538|PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:737471 D RGD:150429697|PMID:27798892 20210916 RGD protein:increased expression:colorectum (human) 3168 Nf1 neurofibromin 1 gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:737471 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:17576681|PMID:23656349|PMID:25741868|PMID:28492532|PMID:9536098 3168 Nf1 neurofibromin 1 gene DOID:0080690 RASopathy ISO RGD:737471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:737471 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10862084|PMID:12552569|PMID:15060124|PMID:15863657|PMID:16944272|PMID:17726231|PMID:24033266|PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:25741868 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:10973 D RGD:1302540|PMID:10591653 19990101 RGD 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21501659 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:151708706|PMID:32575496 20220414 RGD DNA:multiple:multiple (human) 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:1580933|PMID:2134734 19990101 RGD 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:7240710 20130221 OMIM 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:1745350|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35024939|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168 3168 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:0111627 DOORS syndrome ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DOORS syndrome PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 3168 Nf1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:7240710 20130221 OMIM 3168 Nf1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:10090487|PMID:10336779|PMID:10451518|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10980545|PMID:11258625|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12707950|PMID:12807981|PMID:14569132|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16835897|PMID:16944272|PMID:17160901|PMID:17311297|PMID:17426081|PMID:17668375|PMID:17726231|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19221814|PMID:19738042|PMID:19845691|PMID:20301288|PMID:20602485|PMID:21271658|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24951259|PMID:25074460|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25788518|PMID:25877891|PMID:25925892|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27498913|PMID:27793025|PMID:27838393|PMID:27980226|PMID:27999334|PMID:28422438|PMID:28492532|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30014477|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31766501|PMID:31868168|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33562071|PMID:34080803|PMID:34418705|PMID:34427956|PMID:34988040|PMID:35885913|PMID:36988593|PMID:7586657|PMID:7607663|PMID:7655472|PMID:7904209|PMID:7981679|PMID:8544190|PMID:8664912|PMID:9042399|PMID:9109662|PMID:9219684|PMID:9302992|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:10126 keratoconus ISO RGD:737471 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 3168 Nf1 neurofibromin 1 gene DOID:10534 stomach cancer ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10494088|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11137998|PMID:12112660|PMID:12552569|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:1568246|PMID:15863657|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16542390|PMID:16544997|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17311297|PMID:17551851|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18546366|PMID:190611|PMID:19061981|PMID:20301288|PMID:20602485|PMID:21354044|PMID:21532985|PMID:22108604|PMID:22925204|PMID:23010473|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24413922|PMID:24654934|PMID:24789688|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25541118|PMID:25741868|PMID:25810463|PMID:26056819|PMID:26088551|PMID:26230854|PMID:26467025|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27322474|PMID:27838393|PMID:28492532|PMID:28873162|PMID:29290338|PMID:29483232|PMID:29498099|PMID:29618358|PMID:29872168|PMID:29914388|PMID:29926981|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:31730495|PMID:32554297|PMID:36988593|PMID:7607663|PMID:7655472|PMID:7904209|PMID:8834249|PMID:9180088|PMID:9385374|PMID:9463322 3168 Nf1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21236316 3168 Nf1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 3168 Nf1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:20301288|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 3168 Nf1 neurofibromin 1 gene DOID:10907 microcephaly ISO RGD:737471 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30308447 3168 Nf1 neurofibromin 1 gene DOID:1115 sarcoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 3168 Nf1 neurofibromin 1 gene DOID:11446 sciatic neuropathy IEP D RGD:12790590|PMID:8847098 20170216 RGD protein:increased expression:sciatic nerve: 3168 Nf1 neurofibromin 1 gene DOID:12849 autistic disorder ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15389774 3168 Nf1 neurofibromin 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737471 D RGD:12743657|PMID:15389774 20170214 RGD DNA:polymorphism:intron:GXAlu, IVS27AC28.4 (human) 3168 Nf1 neurofibromin 1 gene DOID:1909 melanoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042|PMID:26214590 3168 Nf1 neurofibromin 1 gene DOID:1969 cerebral palsy ISO RGD:737471 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 3168 Nf1 neurofibromin 1 gene DOID:219 colon cancer ISO RGD:737471 D RGD:150429699|PMID:15840687 20210916 RGD mRNA:increased expression:colon (human) 3168 Nf1 neurofibromin 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737471 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 3168 Nf1 neurofibromin 1 gene DOID:224 transient cerebral ischemia IEP D RGD:12789703|PMID:8820972 20170215 RGD mRNA,protein:increased expression:astrocyte: 3168 Nf1 neurofibromin 1 gene DOID:2394 ovarian cancer ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:30287823|PMID:30290804|PMID:30784236|PMID:33471991 3168 Nf1 neurofibromin 1 gene DOID:3068 glioblastoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3168 Nf1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:10973 D RGD:1302542|PMID:10973261 19990101 RGD 3168 Nf1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:23817572 3168 Nf1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:12743656|PMID:10931370 20170214 RGD protein:decreased expression:brain: 3168 Nf1 neurofibromin 1 gene DOID:3070 high grade glioma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3168 Nf1 neurofibromin 1 gene DOID:3070 high grade glioma disease_progression ISO RGD:737471 D RGD:12789702|PMID:26190195 20170215 RGD DNA:mutations: : 3168 Nf1 neurofibromin 1 gene DOID:3192 neurilemmoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3168 Nf1 neurofibromin 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10090487|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12112660|PMID:12566521|PMID:12746402|PMID:12807981|PMID:1511985|PMID:15627836|PMID:16199547|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17426081|PMID:17576681|PMID:17668375|PMID:18041031|PMID:18484666|PMID:18546366|PMID:19076627|PMID:19221814|PMID:19292874|PMID:19738042|PMID:20015894|PMID:21354044|PMID:22155606|PMID:22190595|PMID:23222849|PMID:23404336|PMID:23460398|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24789688|PMID:24932921|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26740943|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27838393|PMID:27862945|PMID:28422438|PMID:28492532|PMID:28955729|PMID:29522274|PMID:29673180|PMID:29872168|PMID:29914388|PMID:30014477|PMID:31533797|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32860008|PMID:33372952|PMID:34080803|PMID:34694046|PMID:7655472|PMID:8069310|PMID:8099055|PMID:9536098|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:3355 fibrosarcoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 3168 Nf1 neurofibromin 1 gene DOID:3369 Ewing sarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:10494088|PMID:10607834|PMID:10712197|PMID:11137998|PMID:12112660|PMID:12807981|PMID:15060124|PMID:16479075|PMID:16870183|PMID:17311297|PMID:20301288|PMID:22925204|PMID:23668869|PMID:23913538|PMID:25741868|PMID:25810463|PMID:26467025|PMID:26962827|PMID:27322474|PMID:28492532|PMID:31730495|PMID:36988593|PMID:7607663|PMID:9385374|PMID:9463322 3168 Nf1 neurofibromin 1 gene DOID:3382 liposarcoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 3168 Nf1 neurofibromin 1 gene DOID:3840 craniopharyngioma ISO RGD:737471 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737471 D RGD:126925764|PMID:30280776 20210519 RGD mRNA:increased expression:lung (human) 3168 Nf1 neurofibromin 1 gene DOID:4851 pilocytic astrocytoma ISO RGD:737471 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868 3168 Nf1 neurofibromin 1 gene DOID:4992 optic nerve glioma ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:10712197|PMID:16199547|PMID:23913538|PMID:25741868|PMID:28492532|PMID:29483232 3168 Nf1 neurofibromin 1 gene DOID:4992 optic nerve glioma susceptibility ISO RGD:737471 D RGD:12789442|PMID:21278392 20170214 RGD associated with Neurofibromatosis 1; DNA:mutations:5'end: 3168 Nf1 neurofibromin 1 gene DOID:5078 ganglioglioma ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:10712197|PMID:15523642|PMID:16835897|PMID:16944272|PMID:18546366|PMID:19738042|PMID:23913538|PMID:24357598|PMID:25325900|PMID:25741868|PMID:26467025|PMID:27980226|PMID:28492532|PMID:31371350|PMID:34427956|PMID:34988040|PMID:7607663 3168 Nf1 neurofibromin 1 gene DOID:5151 plexiform neurofibroma ISO RGD:737471 D RGD:126925763|PMID:17335073 20210519 RGD associated with severe combined immunodeficiency, human cells in mouse model 3168 Nf1 neurofibromin 1 gene DOID:540 strabismus ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 3168 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:9691142 3168 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:9691142 3168 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 3168 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 3168 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 3168 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:35264596|PMID:9691142 3168 Nf1 neurofibromin 1 gene DOID:630 genetic disease ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12483293|PMID:12807981|PMID:15060124|PMID:1511985|PMID:16835897|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17311297|PMID:17576681|PMID:17726231|PMID:17889038|PMID:18041031|PMID:18484666|PMID:18546366|PMID:21031597|PMID:21354044|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24932921|PMID:25074460|PMID:25325900|PMID:25356970|PMID:25525159|PMID:25624686|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:2783839|PMID:27838393|PMID:28068329|PMID:28152038|PMID:28492532|PMID:28529006|PMID:28955729|PMID:29089047|PMID:29483232|PMID:29618358|PMID:29620724|PMID:29673180|PMID:30014477|PMID:30287823|PMID:30290804|PMID:30308447|PMID:31370276|PMID:31476437|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:33673681|PMID:33919865|PMID:34080803|PMID:34427956|PMID:8099055|PMID:9536098|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:657 adenoma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3168 Nf1 neurofibromin 1 gene DOID:768 retinoblastoma ISO RGD:737471 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:8712 neurofibromatosis ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21949590 3168 Nf1 neurofibromin 1 gene DOID:8712 neurofibromatosis ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 PMID:10678181|PMID:10712197|PMID:14722917|PMID:16199547|PMID:16479075|PMID:16835897|PMID:16941471|PMID:17209131|PMID:17426081|PMID:17551851|PMID:17914445|PMID:18546366|PMID:21354044|PMID:23460398|PMID:23668869|PMID:23913538|PMID:25240281|PMID:25741868|PMID:26467025|PMID:26969325|PMID:27069254|PMID:27838393|PMID:28492532|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:36988593|PMID:9150739|PMID:9180088 3168 Nf1 neurofibromin 1 gene DOID:8864 acute monocytic leukemia ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute monocytic leukemia PMID:25741868|PMID:28492532|PMID:29290338|PMID:33471991 3168 Nf1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:10973 D RGD:1302541|PMID:11279521 19990101 RGD 3168 Nf1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21949590 3168 Nf1 neurofibromin 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16941471|PMID:16944272|PMID:17209131|PMID:17406642|PMID:17551851|PMID:17576681|PMID:17914445|PMID:18484666|PMID:18546366|PMID:19142971|PMID:19845691|PMID:21278392|PMID:21354044|PMID:21520333|PMID:22155606|PMID:22190595|PMID:22807134|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24789688|PMID:25240281|PMID:25325900|PMID:25403449|PMID:25525159|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26840085|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28008555|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32126153|PMID:32581362|PMID:33443663|PMID:34080803|PMID:35024939|PMID:36988593|PMID:7581973|PMID:7981679|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:8837715|PMID:9003501|PMID:9150739|PMID:9180088|PMID:9219873|PMID:9475595|PMID:9536098 3168 Nf1 neurofibromin 1 gene DOID:9002380 Watson Syndrome ISO RGD:737471 D RGD:7240710 20130221 OMIM 3168 Nf1 neurofibromin 1 gene DOID:9002380 Watson Syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots PMID:10090487|PMID:10336779|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:10980545|PMID:11258625|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:1302608|PMID:14569132|PMID:15060124|PMID:15146469|PMID:15207265|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16835897|PMID:16944272|PMID:17160901|PMID:17426081|PMID:17726231|PMID:18041031|PMID:18183640|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:20301288|PMID:20602485|PMID:20844836|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:25074460|PMID:25324867|PMID:25370043|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25877891|PMID:25925892|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26510091|PMID:26580448|PMID:26706011|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27793025|PMID:27838393|PMID:28422438|PMID:28492532|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31422574|PMID:31533797|PMID:31766501|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:35885913|PMID:36988593|PMID:7655472|PMID:7904209|PMID:7981679|PMID:8317503|PMID:9042399|PMID:9654211|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17668375|PMID:19738042|PMID:21520333|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23656349|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29089047|PMID:29522274|PMID:31717729|PMID:33372952|PMID:33471991|PMID:34080803 3168 Nf1 neurofibromin 1 gene DOID:9002498 Wallerian Degeneration IEP D RGD:12790590|PMID:8847098 20170216 RGD protein:increased expression:sciatic nerve: 3168 Nf1 neurofibromin 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:737471 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:25240281 3168 Nf1 neurofibromin 1 gene DOID:9005120 Pigmented Nevus ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3168 Nf1 neurofibromin 1 gene DOID:9005235 Neurofibromatosis, Familial Spinal ISO RGD:737471 D RGD:7240710 20130221 OMIM 3168 Nf1 neurofibromin 1 gene DOID:9005235 Neurofibromatosis, Familial Spinal ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Spinal neurofibromas PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11704931|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:1568246|PMID:1568247|PMID:15858190|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1745350|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:20301288|PMID:20602485|PMID:20605257|PMID:2114220|PMID:21271658|PMID:21354044|PMID:21512413|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22207399|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30086788|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31370276|PMID:31422574|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33674644|PMID:34080803|PMID:34418705|PMID:35024939|PMID:35091509|PMID:35264596|PMID:35885913|PMID:36988593|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8669813|PMID:8829638|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9219684|PMID:9219873|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32581362 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32581362|PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30192042|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33673681|PMID:33674644|PMID:34080803|PMID:34392670|PMID:34646065|PMID:34782607|PMID:34860164|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33674644|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32052251|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34489640|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006 3168 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 3168 Nf1 neurofibromin 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:737471 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29847659 3168 Nf1 neurofibromin 1 gene DOID:9007769 Pseudarthrosis IEP D RGD:12789703|PMID:8820972 20170215 RGD mRNA,protein:increased expression:cartilage" 3168 Nf1 neurofibromin 1 gene DOID:9007908 Aortic Coarctation ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10712197|PMID:10862084|PMID:12552569|PMID:15146469|PMID:16199547|PMID:16513807|PMID:16944272|PMID:17576681|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24413922|PMID:24654934|PMID:25074460|PMID:25741868|PMID:26088551|PMID:28492532|PMID:29290338|PMID:29483232|PMID:29926981|PMID:30287823|PMID:30308447|PMID:30530636|PMID:31160754|PMID:36988593|PMID:9536098 3168 Nf1 neurofibromin 1 gene DOID:9007956 Febrile Seizures ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 3168 Nf1 neurofibromin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737471 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 3168 Nf1 neurofibromin 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868|PMID:28492532 3168 Nf1 neurofibromin 1 gene DOID:9008763 Femoral Fractures ISO RGD:10973 D RGD:12789703|PMID:8820972 20170215 RGD mRNA,protein:increased expression:cartilage" 3168 Nf1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21441929|PMID:25822087 3168 Nf1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737471 D RGD:12754447|PMID:12518368 20170214 RGD 3168 Nf1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:737471 D RGD:12789444|PMID:23460398 20170214 RGD DNA:deletion: : 3168 Nf1 neurofibromin 1 gene DOID:9538 multiple myeloma ISO RGD:737471 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 3168 Nf1 neurofibromin 1 gene DOID:962 neurofibroma ISO RGD:737471 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3168 Nf1 neurofibromin 1 gene DOID:962 neurofibroma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:10712197|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17103458|PMID:17311297|PMID:18546366|PMID:19449407|PMID:21031597|PMID:23758643|PMID:23913538|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:27074763|PMID:28068329|PMID:28492532|PMID:28955729|PMID:29618358|PMID:30290804|PMID:31476437|PMID:31533651|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:32581362|PMID:34080803|PMID:34427956|PMID:9783703 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0050770 polycystic liver disease ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12136076 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:151708704|PMID:29409008 20220414 RGD DNA:multiple:multiple (human) 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:151708708|PMID:28365909 20220414 RGD DNA:multiple:multiple (human) 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:7240710 20130221 OMIM 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 neurofibromatosis 2 ISO RGD:731858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:10691417|PMID:10712203|PMID:10777666|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11535133|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:12118253|PMID:12217955|PMID:12566519|PMID:12695331|PMID:12807969|PMID:1479598|PMID:15598747|PMID:15635074|PMID:15645494|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:17607601|PMID:18033041|PMID:18173316|PMID:18554169|PMID:18670066|PMID:18766994|PMID:19234911|PMID:19451225|PMID:19924781|PMID:19968670|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:21906157|PMID:22012890|PMID:22081132|PMID:22295085|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23348505|PMID:24030433|PMID:24033266|PMID:24309211|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25326635|PMID:2543905|PMID:25525159|PMID:25567352|PMID:25640679|PMID:25741868|PMID:25798586|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26407091|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:28737257|PMID:28873162|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30306255|PMID:30594554|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31370276|PMID:33067351|PMID:4000972|PMID:7535084|PMID:7666400|PMID:7711726|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8566958|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8757035|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9391890|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9817921|PMID:9817927|PMID:9884492|PMID:9931334 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111253 neurofibromatosis 1 ISO RGD:731858 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:10754 otitis media ISS RGD:731859 D RGD:13592920 20180518 MouseDO OMIM:166760 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12270 coloboma ISS RGD:731859 D RGD:13592920 20220428 MouseDO OMIM:120200 | OMIM:120300 | OMIM:216820 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12689 acoustic neuroma ISO RGD:731858 D RGD:8661792|PMID:20600642 20140617 RGD protein:decreased expression:myelinated nerve: 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1612 breast cancer ISO RGD:731858 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:731858 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23435014|PMID:26463840|PMID:26678224|PMID:26928227|PMID:29112861 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:731859 D RGD:150530636|PMID:32271879 20211220 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:731859 D RGD:150530640|PMID:16166281 20211220 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1826 epilepsy IEP D RGD:2315002|PMID:16468657 20091211 RGD protein:increased expression:cerebral cortex, hippocampus 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3070 high grade glioma ISO RGD:731858 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3192 neurilemmoma ISO RGD:731858 D RGD:150530508|PMID:7669741 20211216 RGD DNA:loss of heterozygosity 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3204 neurilemmomatosis ISO RGD:731858 D RGD:7240710 20130221 OMIM 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3204 neurilemmomatosis ISO RGD:731858 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schwannomatosis 1 PMID:25741868|PMID:7798645|PMID:9399891 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:150530508|PMID:7669741 20211216 RGD DNA:loss of heterozygosity 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:1624321|PMID:16398473 20070508 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningioma PMID:16983642|PMID:18033041|PMID:21294614|PMID:22711605|PMID:23196945|PMID:25741868|PMID:26073919|PMID:28492532|PMID:29781505|PMID:31273341|PMID:33067351|PMID:7868131|PMID:8162072|PMID:8379998|PMID:8882871|PMID:9643284|PMID:9718334|PMID:9884492 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731858 D RGD:150530639|PMID:21743150 20211220 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4235 spindle cell sarcoma ISO RGD:731858 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Spindle cell sarcoma PMID:28890946 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:2315000|PMID:19487675 20091211 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:7240710 20230505 OMIM 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:16983642|PMID:20553997|PMID:25741868|PMID:27930734|PMID:28492532|PMID:29641532 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:5648 choroid plexus carcinoma ISO RGD:731858 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:630 genetic disease ISO RGD:731858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1484939|PMID:15684865|PMID:28492532|PMID:7535084 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:150530489|PMID:29130106 20211213 RGD DNA, protein:SNP, increased expression:intron, liver 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:150530504|PMID:27289045 20211214 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731858 D RGD:11076529|PMID:26443326 20211214 RGD protein:decreased expression:liver 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma ISO RGD:731858 D RGD:150429647|PMID:26928227 20211220 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:11553131|PMID:26493618 20211220 RGD DNA:loss of heterozygosity 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:150530638|PMID:27378628 20211220 RGD 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:8712 neurofibromatosis ISS RGD:731859 D RGD:13592920 20180518 MouseDO OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9000315 Pleural Neoplasms ISO RGD:731858 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:23435014 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9003566 Mesothelioma ISO RGD:731858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12136076|PMID:12168054|PMID:12802287|PMID:16166281|PMID:16319530|PMID:18835652 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731858 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9009121 lung metastasis ISO RGD:731858 D RGD:11076529|PMID:26443326 20211214 RGD associated with hepatocellular carcinoma 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731858 D RGD:150530507|PMID:11123422 20211214 RGD DNA:loss of heterozygosity 3169 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9256 colorectal cancer ISO RGD:731858 D RGD:150530506|PMID:24323642 20211214 RGD DNA:loss of heterozygosity 3170 Nfia nuclear factor I/A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:7240710 20190315 OMIM 3170 Nfia nuclear factor I/A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome PMID:24462883|PMID:25714559|PMID:25741868|PMID:27081522|PMID:28492532|PMID:31730271 3170 Nfia nuclear factor I/A gene DOID:1059 intellectual disability ISO RGD:69144 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 3170 Nfia nuclear factor I/A gene DOID:630 genetic disease ISO RGD:69144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10518556|PMID:1618796|PMID:17530927|PMID:19058033|PMID:19763616|PMID:20673863|PMID:22301465|PMID:22542183|PMID:24098143|PMID:24267886|PMID:24462883|PMID:24657733|PMID:25741868|PMID:27081522|PMID:28492532 3170 Nfia nuclear factor I/A gene DOID:9003816 Macrocephaly ISO RGD:69144 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Macrocephaly 3170 Nfia nuclear factor I/A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3171 Nfkbia NFKB inhibitor alpha gene DOID:0050745 diffuse large B-cell lymphoma no_association ISO RGD:735440 D RGD:2298905|PMID:15198731 20080731 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:10413878|PMID:20045035 20151125 RGD associated with Liver Neoplasms 3171 Nfkbia NFKB inhibitor alpha gene DOID:0080600 COVID-19 ISO RGD:735440 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 3171 Nfkbia NFKB inhibitor alpha gene DOID:0080815 childhood-onset asthma exacerbates ISO RGD:735440 D RGD:40902982|PMID:23487427 20210618 RGD associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:0080998 acute necrotizing pancreatitis treatment IEP D RGD:10414072|PMID:19174608 20151202 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:7240710 20130221 OMIM 3171 Nfkbia NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:14523047|PMID:15337789|PMID:17576681|PMID:17931563|PMID:18412279|PMID:23708964|PMID:23864385|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:26888281|PMID:28417298|PMID:28492532|PMID:28629746|PMID:29948576|PMID:32581362|PMID:9536098 3171 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer ISO RGD:735440 D RGD:13506765|PMID:28041912 20180212 RGD protein:decreased expression, increased phosphorylation 3171 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer ISO RGD:735440 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 3171 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer disease_progression ISO RGD:735440 D RGD:13506767|PMID:23093296 20180212 RGD protein:increased serine phosphorylation 3171 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:11054182|PMID:26068031 20180212 RGD DNA:polymorphism:3' UTR 3171 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:13506766|PMID:26834482 20180212 RGD DNA:SNPs: :rs2233406, rs3138053 (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer susceptibility ISO RGD:735440 D RGD:11054182|PMID:26068031 20180212 RGD DNA:SNPs:promoter:-826C>T, -881A>G (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:10763 hypertension treatment IEP D RGD:7495780|PMID:19246475 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:11383 cryptorchidism ISO RGD:10975 D RGD:11567213|PMID:22777528 20161201 RGD protein:decreased expression:testis 3171 Nfkbia NFKB inhibitor alpha gene DOID:11446 sciatic neuropathy treatment IDA D RGD:10413869|PMID:18938092 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:11650 bronchopulmonary dysplasia exacerbates ISO RGD:735440 D RGD:40902982|PMID:23487427 20210618 RGD DNA:SNPs:promoter: (rs2233406, rs2233409) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:1184 nephrotic syndrome exacerbates ISO RGD:735440 D RGD:127285019|PMID:17441336 20210616 RGD protein:decreased expression:peripheral blood mononuclear cell (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:126908016|PMID:20696914 20210510 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISS RGD:10975 D RGD:13592920 20180518 MouseDO OMIM:270150 3171 Nfkbia NFKB inhibitor alpha gene DOID:1324 lung cancer susceptibility ISO RGD:735440 D RGD:13793394|PMID:26870106 20181005 RGD DNA:polymorphisms:promoter:-826C>T,-881A>G (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:13250 diarrhea ameliorates ISO RGD:735440 D RGD:126925947|PMID:20008138 20210520 RGD human gene in a mouse model 3171 Nfkbia NFKB inhibitor alpha gene DOID:14115 toxic shock syndrome treatment IEP D RGD:126928137|PMID:11961112 20210601 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:1793 pancreatic cancer ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15861417 3171 Nfkbia NFKB inhibitor alpha gene DOID:1883 hepatitis C susceptibility ISO RGD:735440 D RGD:40902826|PMID:30056167 20201212 RGD DNA:deletion:promoter: (rs28362491) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:1909 melanoma ISO RGD:735440 D RGD:2298900|PMID:17492467 20080731 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:2043 hepatitis B susceptibility ISO RGD:735440 D RGD:40902986|PMID:25223483 20210601 RGD DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:2316 brain ischemia ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628779 3171 Nfkbia NFKB inhibitor alpha gene DOID:2349 arteriosclerosis ISO RGD:735440 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 3171 Nfkbia NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:10975 D RGD:2298768|PMID:15712212 20180212 RGD protein:increased serine phosphorylation 3171 Nfkbia NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma severity ISO RGD:735440 D RGD:13506768|PMID:15073126 20180212 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:289 endometriosis IEP D RGD:10413877|PMID:23954358 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:735440 D RGD:126908014|PMID:9379002 20210510 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:3068 glioblastoma treatment ISO RGD:735440 D RGD:127285387|PMID:15692608 20210618 RGD human cell line in a mouse model 3171 Nfkbia NFKB inhibitor alpha gene DOID:3310 atopic dermatitis ISS RGD:10975 D RGD:13592920 20180518 MouseDO OMIM:603165 3171 Nfkbia NFKB inhibitor alpha gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10413868|PMID:21122797 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:4029 gastritis treatment IDA D RGD:10413874|PMID:25335260 20151125 RGD associated with Helicobacter Infections 3171 Nfkbia NFKB inhibitor alpha gene DOID:552 pneumonia susceptibility ISO RGD:735440 D RGD:126925985|PMID:31683054 20210525 RGD associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:5844 myocardial infarction treatment IEP D RGD:10413879|PMID:19616538 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:612 primary immunodeficiency disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17931563|PMID:25741868|PMID:28492532|PMID:28629746|PMID:32581362 3171 Nfkbia NFKB inhibitor alpha gene DOID:630 genetic disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3171 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22022477 3171 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735440 D RGD:40400751|PMID:19797428 20201211 RGD associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735440 D RGD:40902986|PMID:25223483 20210601 RGD associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19223558 3171 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:2298893|PMID:10340377 20080731 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:2298894|PMID:10556199 20080731 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:865 vasculitis ISO RGD:735440 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 3171 Nfkbia NFKB inhibitor alpha gene DOID:8893 psoriasis ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:10413867|PMID:21134362 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000099 Experimental Colitis treatment IDA D RGD:10413866|PMID:21642017 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000310 Lung Injury IEP D RGD:10413876|PMID:19321049 20151125 RGD associated with Reperfusion Injury 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000873 Adenoviridae Infections ameliorates ISO RGD:735440 D RGD:126925948|PMID:10692445 20210520 RGD human gene in a mouse model, associated with Animal Viral Hepatitis 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:10413863|PMID:20199666 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:735440 D RGD:13506767|PMID:23093296 20180212 RGD associated with prostate cancer;protein:increased serine phosphorylation 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:127285388|PMID:17463416 20210618 RGD DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:127285391|PMID:29407193 20210618 RGD DNA:SNP: :(rs1050851) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 3171 Nfkbia NFKB inhibitor alpha gene DOID:9001708 Hemorrhagic Shock treatment IEP D RGD:127285020|PMID:11557243 20210616 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9002676 Cerebral Hemorrhage IDA D RGD:10413872|PMID:20150961 20151125 RGD protein:increased phosphorylation:brain 3171 Nfkbia NFKB inhibitor alpha gene DOID:9003139 Cardiac Fibrosis treatment IEP D RGD:10413875|PMID:20231522 20151125 RGD associated with Hypertension 3171 Nfkbia NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment IEP D RGD:35316072|PMID:31828147 20200708 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:10975 D RGD:10413870|PMID:19399405 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9004484 Sepsis treatment IEP D RGD:126928138|PMID:14662889 20210601 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9004702 Pregnancy Complications susceptibility ISO RGD:735440 D RGD:11342310|PMID:25792174 20201212 RGD associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735440 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3171 Nfkbia NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10413864|PMID:22483164 20151125 RGD protein:decreased expression:kidney 3171 Nfkbia NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:10413873|PMID:20188823 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9005930 Endotoxemia exacerbates ISO RGD:10975 D RGD:126908017|PMID:19098124 20210510 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9005930 Endotoxemia treatment ISO RGD:10975 D RGD:126928139|PMID:10229101 20210601 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:735440 D RGD:40902821|PMID:30431214 20201211 RGD associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10975 D RGD:127285021|PMID:10429205 20210616 RGD protein:decreased expression:lymph node (mouse) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735440 D RGD:40902982|PMID:23487427 20210618 RGD associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3171 Nfkbia NFKB inhibitor alpha gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:735440 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis 3171 Nfkbia NFKB inhibitor alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:10413871|PMID:19304943 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735440 D RGD:127285389|PMID:29093318 20210618 RGD DNA:enhancers: :(rs2233406, rs2233409) (human) 3171 Nfkbia NFKB inhibitor alpha gene DOID:9008824 Sarcopenia IEP D RGD:10413861|PMID:15665035 20151125 RGD protein:increased expression:soleus 3171 Nfkbia NFKB inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:735440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 3171 Nfkbia NFKB inhibitor alpha gene DOID:9538 multiple myeloma ISO RGD:735440 D RGD:2298895|PMID:12377412 20080731 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9538 multiple myeloma ISO RGD:735440 D RGD:2298898|PMID:16540234 20080731 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9588 encephalitis IEP D RGD:5147676|PMID:16006567 20120322 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9675 pulmonary emphysema treatment IDA D RGD:4891488|PMID:20472710 20151125 RGD 3171 Nfkbia NFKB inhibitor alpha gene DOID:9965 toxoplasmosis exacerbates ISO RGD:735440 D RGD:126925984|PMID:12626571 20210525 RGD human gene in a mouse model 3172 Nfyb nuclear transcription factor Y subunit beta gene DOID:630 genetic disease ISO RGD:1352074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3173 Nfyc nuclear transcription factor Y subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731843 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 3173 Nfyc nuclear transcription factor Y subunit gamma gene DOID:630 genetic disease ISO RGD:731843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3175 Klk1b3 kallikrein 1-related peptidase B3 gene DOID:10763 hypertension IAGP D RGD:1358144|PMID:15809361 20061024 RGD 3177 Ngfr nerve growth factor receptor gene DOID:0050328 congenital hypothyroidism treatment IEP D RGD:10414076|PMID:23312094 20151202 RGD 3177 Ngfr nerve growth factor receptor gene DOID:0050850 diabetic encephalopathy treatment IEP D RGD:7242845|PMID:23528019 20151130 RGD associated with Diabetes Mellitus, Experimental 3177 Ngfr nerve growth factor receptor gene DOID:10487 Hirschsprung's disease ISO RGD:730911 D RGD:5508387|PMID:7807351 20111013 RGD protein:decreased expression:lamina propria:lack of staining is a marker for HD (human) 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:10983 D RGD:5508225|PMID:19334058 20111011 RGD protein:altered localization:brain 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:10413892|PMID:10683291 20151130 RGD protein:decreased expression:basal nucleus of telencephalon, neuron 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:10413893|PMID:8215963 20151130 RGD protein:altered expression:urine 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:10414073|PMID:2557638 20151202 RGD 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:5508228|PMID:18780967 20111011 RGD DNA:SNP:CDS:rs2072446 (human) 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:730911 D RGD:10413891|PMID:22236693 20151130 RGD DNA:SNPs, haplotypes: :multiple 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10413894|PMID:19070649 20151130 RGD 3177 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10983 D RGD:10413895|PMID:23545424 20151130 RGD 3177 Ngfr nerve growth factor receptor gene DOID:10762 portal hypertension IEP D RGD:10414081|PMID:22292477 20151202 RGD protein:increased expression:superior mesenteric ganglion 3177 Ngfr nerve growth factor receptor gene DOID:10763 hypertension IAGP D RGD:5508800|PMID:8762194 20111021 RGD DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) 3177 Ngfr nerve growth factor receptor gene DOID:11446 sciatic neuropathy IEP D RGD:10414078|PMID:23138653 20151202 RGD 3177 Ngfr nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:10983 D RGD:5144067|PMID:17576803 20110729 RGD 3177 Ngfr nerve growth factor receptor gene DOID:11612 polycystic ovary syndrome IEP D RGD:5508374|PMID:15795180 20111013 RGD mRNA,protein:increased expression:ovary 3177 Ngfr nerve growth factor receptor gene DOID:11832 visual epilepsy treatment IEP D RGD:9743975|PMID:12873743 20150224 RGD 3177 Ngfr nerve growth factor receptor gene DOID:12217 Lewy body dementia ISO RGD:730911 D RGD:10413896|PMID:8347330 20151130 RGD protein:decreased expression:brain 3177 Ngfr nerve growth factor receptor gene DOID:1273 respiratory syncytial virus infectious disease IEP D RGD:4891065|PMID:19824047 20110728 RGD 3177 Ngfr nerve growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:730911 D RGD:10058981|PMID:18093249 20151130 RGD mRNA:increased expression:caudate nucleus 3177 Ngfr nerve growth factor receptor gene DOID:1289 neurodegenerative disease ISO RGD:730911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12097334 3177 Ngfr nerve growth factor receptor gene DOID:1307 dementia IEP D RGD:10413897|PMID:8232919 20151130 RGD associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus 3177 Ngfr nerve growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:730911 D RGD:10413896|PMID:8347330 20151130 RGD protein:decreased expression:brain 3177 Ngfr nerve growth factor receptor gene DOID:1555 urticaria ISO RGD:730911 D RGD:5508479|PMID:12653731 20111018 RGD protein:decreased expression:skin (human) 3177 Ngfr nerve growth factor receptor gene DOID:1596 depressive disorder ISO RGD:730911 D RGD:5508376|PMID:15274039 20111013 RGD DNA:SNP:CDS:p.S205L, minor (L) allele appears protective (human) 3177 Ngfr nerve growth factor receptor gene DOID:1679 cystitis IEP D RGD:5508447|PMID:18189308 20111018 RGD protein, mRNA:increased expression:lumbosacral dorsal root ganglia 3177 Ngfr nerve growth factor receptor gene DOID:1686 glaucoma IDA D RGD:5508695|PMID:20943663 20120827 RGD 3177 Ngfr nerve growth factor receptor gene DOID:1793 pancreatic cancer severity ISO RGD:730911 D RGD:5508229|PMID:16704535 20111011 RGD mRNA:increased expression:tumor:associated with longer overall survival (human) 3177 Ngfr nerve growth factor receptor gene DOID:1909 melanoma ISO RGD:730911 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30339727 3177 Ngfr nerve growth factor receptor gene DOID:1936 atherosclerosis ISO RGD:730911 D RGD:5508382|PMID:11689207 20111013 RGD protein:increased expression:adventitia, vasa vasorum (human) 3177 Ngfr nerve growth factor receptor gene DOID:224 transient cerebral ischemia IEP D RGD:9743974|PMID:11124986 20150224 RGD 3177 Ngfr nerve growth factor receptor gene DOID:2377 multiple sclerosis ISO RGD:730911 D RGD:5508481|PMID:11829348 20111018 RGD protein:increased expression:reactive astrocytes, microglia/macrophages (human) 3177 Ngfr nerve growth factor receptor gene DOID:2841 asthma ISO RGD:10983 D RGD:5144070|PMID:16603479 20110729 RGD 3177 Ngfr nerve growth factor receptor gene DOID:2841 asthma ISO RGD:10983 D RGD:5144072|PMID:12540484 20110729 RGD 3177 Ngfr nerve growth factor receptor gene DOID:3310 atopic dermatitis ISO RGD:730911 D RGD:5508452|PMID:16586073 20111018 RGD protein:increased expression:nerve fibers of the papillary dermis (human) 3177 Ngfr nerve growth factor receptor gene DOID:3393 coronary artery disease ISO RGD:730911 D RGD:1580935|PMID:11935372 20150324 RGD 3177 Ngfr nerve growth factor receptor gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10413900|PMID:22678884 20151130 RGD 3177 Ngfr nerve growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10983 D RGD:5144067|PMID:17576803 20110729 RGD 3177 Ngfr nerve growth factor receptor gene DOID:4483 rhinitis ISO RGD:730911 D RGD:5144116|PMID:18647313 20110729 RGD protein:increased expression:blood, eosinophil 3177 Ngfr nerve growth factor receptor gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat) 3177 Ngfr nerve growth factor receptor gene DOID:630 genetic disease ISO RGD:730911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3177 Ngfr nerve growth factor receptor gene DOID:90 degenerative disc disease IMP D RGD:5144150|PMID:20973063 20110801 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5144100|PMID:11223160 20110729 RGD mRNA:increased expression:spinal cord 3177 Ngfr nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:10414079|PMID:23748892 20151202 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9000310 Lung Injury ISO RGD:10983 D RGD:5144065|PMID:17673270 20110728 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9000641 Pain IMP D RGD:5144063|PMID:20060234 20110728 RGD associated with Inflammation 3177 Ngfr nerve growth factor receptor gene DOID:9000998 Brain Injuries treatment IDA D RGD:10414074|PMID:23940017 20151202 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:10413905|PMID:22302815 20151201 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries treatment IDA D RGD:10413899|PMID:22669154 20151130 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9002211 Hyperalgesia treatment IMP D RGD:10413898|PMID:23324933 20151130 RGD associated with Brachial Plexus Neuropathies 3177 Ngfr nerve growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:730911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17409433|PMID:18056468 3177 Ngfr nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5508386|PMID:8866783 20111013 RGD mRNA:increased expression:central nervous system 3177 Ngfr nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10983 D RGD:5508312|PMID:16519950 20111012 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10436046 3177 Ngfr nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5144144|PMID:21136036 20110801 RGD protein:increased expression:retina 3177 Ngfr nerve growth factor receptor gene DOID:9006190 Chronic Pancreatitis ISO RGD:730911 D RGD:5508378|PMID:12741461 20111013 RGD mRNA:increased expression:pancreas (human) 3177 Ngfr nerve growth factor receptor gene DOID:9007500 Prurigo ISO RGD:730911 D RGD:5508384|PMID:10025723 20111013 RGD protein:increased expression:skin Schwann cells, skin perineurium cells (human) 3177 Ngfr nerve growth factor receptor gene DOID:9008091 Optic Nerve Injuries IDA D RGD:5508695|PMID:20943663 20120827 RGD 3177 Ngfr nerve growth factor receptor gene DOID:9743 diabetic neuropathy IEP D RGD:5508379|PMID:12469361 20111013 RGD mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe) 3178 Nid1 nidogen 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737172 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3178 Nid1 nidogen 1 gene DOID:630 genetic disease ISO RGD:737172 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3178 Nid1 nidogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3178 Nid1 nidogen 1 gene DOID:9002079 Paresis ISO RGD:737172 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:25558065 3178 Nid1 nidogen 1 gene DOID:9004657 Weight Gain ISO RGD:737172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 3178 Nid1 nidogen 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737172 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3179 Ninj1 ninjurin 1 gene DOID:0080600 COVID-19 ISO RGD:737046 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3179 Ninj1 ninjurin 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 3179 Ninj1 ninjurin 1 gene DOID:630 genetic disease ISO RGD:737046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:0050211 swine influenza ISO RGD:735994 D RGD:40818269|PMID:20130050 20201117 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:0060704 lymphoproliferative syndrome disease_progression ISO RGD:735993 D RGD:39128180|PMID:22105417 20201103 RGD associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:11168 anogenital venereal wart ISO RGD:735993 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:decreased expression:multiple (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C ISO RGD:735993 D RGD:11553576|PMID:26518141 20200923 RGD mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C ISO RGD:735993 D RGD:40818300|PMID:27091211 20201118 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:1883 hepatitis C disease_progression ISO RGD:735993 D RGD:40818300|PMID:27091211 20201118 RGD associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:1909 melanoma ISO RGD:735993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17295095 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:2043 hepatitis B treatment ISO RGD:735994 D RGD:38676490|PMID:17991774 20200921 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:2043 hepatitis B treatment ISO RGD:735994 D RGD:39128174|PMID:28318408 20200923 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:735993 D RGD:39018559|PMID:22170554 20200923 RGD DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:3213 demyelinating disease ISO RGD:735994 D RGD:38676491|PMID:18160433 20200922 RGD associated with Coronaviridae infections 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:399 tuberculosis ISO RGD:735994 D RGD:39018558|PMID:16619285 20200922 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:399 tuberculosis treatment ISO RGD:735993 D RGD:39128143|PMID:23922903 20200923 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:4231 histiocytoma treatment IDA D RGD:9685182|PMID:15048723 20141222 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:630 genetic disease ISO RGD:735993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9000873 Adenoviridae Infections ISO RGD:735994 D RGD:39018557|PMID:21076062 20200922 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9001645 Coronaviridae Infections ISO RGD:735994 D RGD:38676499|PMID:18094157 20200922 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9002137 Infectious Ectromelia susceptibility ISO RGD:735994 D RGD:38676489|PMID:18266471 20200921 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9003284 HIV Seropositivity ISO RGD:735993 D RGD:40818300|PMID:27091211 20201118 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9003393 AIDS-Related Complex treatment ISO RGD:735993 D RGD:39018554|PMID:23018378 20200922 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735993 D RGD:40400738|PMID:21168454 20201106 RGD protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735993 D RGD:40813739|PMID:25148254 20201109 RGD protein:decreased expression:liver,natural killer cell (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735993 D RGD:39018562|PMID:25965701 20200923 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9004283 Transplant Rejection IEP D RGD:9685184|PMID:20306467 20141222 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9004484 Sepsis susceptibility ISO RGD:735994 D RGD:38676493|PMID:28087665 20200922 RGD associated with Gram-Negative Bacterial Infections 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9004702 Pregnancy Complications treatment ISO RGD:735994 D RGD:39128164|PMID:28438315 20200923 RGD associated with Animal Toxoplasmosis 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735994 D RGD:39018560|PMID:28760883 20200923 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735993 D RGD:39018561|PMID:25861030 20200923 RGD DNA:SNP:cds: c.214A>G (rs2255336) (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735993 D RGD:39128159|PMID:29967528 20200923 RGD DNA:SNP,haplotypes:3'utr: (rs10772271) (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9007417 Pseudomonas Infections ISO RGD:735994 D RGD:38676496|PMID:18832705 20200922 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:9685183|PMID:23953572 20141222 RGD 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:735993 D RGD:39018553|PMID:20648603 20200922 RGD DNA:SNP:intron 1:(rs2617160) (human) 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:735994 D RGD:39128165|PMID:26290604 20200923 RGD associated with lymphocytic choriomeningitis 3180 Klrk1 killer cell lectin like receptor K1 gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:735994 D RGD:38676492|PMID:22944096 20200922 RGD associated with lymphocytic choriomeningitis 3181 Nmbr neuromedin B receptor gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:731785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 3181 Nmbr neuromedin B receptor gene DOID:630 genetic disease ISO RGD:731785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3181 Nmbr neuromedin B receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 3183 Nog noggin gene DOID:0050777 Joubert syndrome ISO RGD:735776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 3183 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism 3183 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:12801455|PMID:11846737 20170331 RGD DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human) 3183 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:12801479|PMID:24326127 20170404 RGD DNA:missense mutation:cds:c.499C>T(p.R167C)human 3183 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:1600234|PMID:10080184 20070305 RGD 3183 Nog noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:12801450|PMID:26211601 20170331 RGD DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 3183 Nog noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:7240710 20130221 OMIM 3183 Nog noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome PMID:10080184|PMID:11545688|PMID:17245852|PMID:17668388|PMID:25741868|PMID:28492532|PMID:29159868|PMID:4019538|PMID:7557985 3183 Nog noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:12801454|PMID:17260385 20170331 RGD 3183 Nog noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISS RGD:10989 D RGD:13592920 20180518 MouseDO OMIM:189960 3183 Nog noggin gene DOID:0080600 COVID-19 ISO RGD:735776 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3183 Nog noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:7240710 20201021 OMIM 3183 Nog noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal symphalangism 1A PMID:10080184|PMID:11160400|PMID:11545688|PMID:11846737|PMID:11857750|PMID:17245852|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:7557985|PMID:9851982 3183 Nog noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:12801467|PMID:16151340 20170403 RGD DNA:mutation:cds:1426G>C (P.W205C)(Human) 3183 Nog noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:1600234|PMID:10080184 20070305 RGD 3183 Nog noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:7240710 20131030 OMIM 3183 Nog noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome PMID:10080184|PMID:11846737|PMID:15770128|PMID:16532400|PMID:17609215|PMID:20503332|PMID:25741868|PMID:3667255|PMID:6638061 3183 Nog noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:12801481|PMID:17668388 20170404 RGD DNA:mutations:cds: 3183 Nog noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:7240710 20131030 OMIM 3183 Nog noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B2 PMID:11160400|PMID:11857750|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:29159868|PMID:34008892|PMID:9851982 3183 Nog noggin gene DOID:0110975 brachydactyly type B2 no_association ISO RGD:735776 D RGD:12801483|PMID:22529972 20170404 RGD DNA:mutation:cds:p.G92E(human) 3183 Nog noggin gene DOID:10652 Alzheimer's disease ISO RGD:10989 D RGD:10414082|PMID:19463786 20151202 RGD 3183 Nog noggin gene DOID:11476 osteoporosis ISO RGD:10989 D RGD:10414323|PMID:12975477 20151202 RGD 3183 Nog noggin gene DOID:12556 acute kidney tubular necrosis IEP D RGD:1601494|PMID:16284088 20151203 RGD associated with Kidney Reperfusion Injury 3183 Nog noggin gene DOID:12858 Huntington's disease treatment ISO RGD:735776 D RGD:10415531|PMID:17885687 20151202 RGD 3183 Nog noggin gene DOID:2340 craniosynostosis treatment ISO RGD:735776 D RGD:8547554|PMID:19627528 20151203 RGD 3183 Nog noggin gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:735776 D RGD:12801480|PMID:21111488 20170404 RGD mRNA,protein:decreased expression:mononuclear cell" 3183 Nog noggin gene DOID:5394 prolactinoma ISO RGD:10989 D RGD:629544|PMID:12552124 20151202 RGD mRNA, protein:decreased expression:pituitary 3183 Nog noggin gene DOID:630 genetic disease ISO RGD:735776 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16532400|PMID:25241334|PMID:28492532 3183 Nog noggin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:10989 D RGD:10429192|PMID:18221366 20151203 RGD 3183 Nog noggin gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:10989 D RGD:10428775|PMID:17258709 20151203 RGD 3183 Nog noggin gene DOID:9003483 Conductive Hearing Loss ISO RGD:10989 D RGD:12801451|PMID:18096605 20170331 RGD 3183 Nog noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:7240710 20200311 OMIM 3183 Nog noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes PMID:10069712|PMID:11160400|PMID:11857750|PMID:12089654|PMID:17668388|PMID:18440889|PMID:26474326|PMID:28492532|PMID:9851982 3183 Nog noggin gene DOID:9005616 Micrognathism ISO RGD:735776 D RGD:12801465|PMID:20645637 20170403 RGD DNA:SNP:rs1348322(human) 3183 Nog noggin gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:12801489|PMID:25740156 20170404 RGD mRNA,protein:decreased expression:lung: 3183 Nog noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:11251786|PMID:25704602 20170404 RGD DNA:SNP: : rs227727 (human) 3183 Nog noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:12801482|PMID:25339627 20170404 RGD DNA:SNP: :rs227731(human) 3183 Nog noggin gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10430114|PMID:21193740 20151203 RGD mRNA, protein:increased expression:aorta 3183 Nog noggin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10989 D RGD:10430114|PMID:21193740 20151203 RGD mRNA, protein:increased expression:aorta 3183 Nog noggin gene DOID:9834 hyperopia ISO RGD:735776 D RGD:12801467|PMID:16151340 20170403 RGD associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) 3184 Nos1 nitric oxide synthase 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 3184 Nos1 nitric oxide synthase 1 gene DOID:0050700 cardiomyopathy IEP D RGD:1642134|PMID:17721248 20070904 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte 3184 Nos1 nitric oxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:619551 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3184 Nos1 nitric oxide synthase 1 gene DOID:0080855 Parkinsonism IEP D RGD:7257596|PMID:23967645 20130827 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:0080998 acute necrotizing pancreatitis treatment IDA D RGD:7257665|PMID:23300603 20130828 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:13824975|PMID:17418914 20181109 RGD DNA:repeat:exon 3184 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:13824976|PMID:10964481 20181109 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:13824978|PMID:12384247 20181109 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:619551 D RGD:13824975|PMID:17418914 20181109 RGD DNA:SNP:exon:-84G>A (human) 3184 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:619551 D RGD:13824974|PMID:21098972 20181109 RGD DNA:repeat:promoter 3184 Nos1 nitric oxide synthase 1 gene DOID:10762 portal hypertension treatment IDA D RGD:13824993|PMID:10727442 20181112 RGD associated with liver cirrhosis 3184 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension IEP D RGD:1581141|PMID:16093913 19990101 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension IEP D RGD:1581142|PMID:15913838 19990101 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension IEP D RGD:1581143|PMID:15775788 19990101 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension IEP D RGD:1642127|PMID:17574276 20070904 RGD mRNA:decreased expression:bladder, penis 3184 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension IMP D RGD:5132600|PMID:20494920 20110527 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension treatment IDA D RGD:7257668|PMID:23201071 20130828 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:10941 intracranial aneurysm ISO RGD:10991 D RGD:5131897|PMID:21321533 20110516 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:619551 D RGD:13825135|PMID:9542584 20181116 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:1184 nephrotic syndrome IEP D RGD:1642133|PMID:12853118 20070904 RGD protein:decreased expression:kidney 3184 Nos1 nitric oxide synthase 1 gene DOID:12577 urethral obstruction IEP D RGD:7257604|PMID:23766828 20130827 RGD protein:increased expression:urinary bladder 3184 Nos1 nitric oxide synthase 1 gene DOID:12638 hypertrophic pyloric stenosis ISS RGD:10991 D RGD:13592920 20180518 MouseDO OMIM:179010 | OMIM:300711 | OMIM:610260 | OMIM:612017 | OMIM:612525 3184 Nos1 nitric oxide synthase 1 gene DOID:12935 alcoholic cardiomyopathy IEP D RGD:1642138|PMID:17607508 20070905 RGD protein:decreased expression:skeletal muscle, membrane 3184 Nos1 nitric oxide synthase 1 gene DOID:13025 retinopathy of prematurity IEP D RGD:7257667|PMID:23204802 20130828 RGD protein:increased expression:retina 3184 Nos1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy IEP D RGD:1642151|PMID:17083474 20070905 RGD protein:increased expression:neocortex 3184 Nos1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy IEP D RGD:5132590|PMID:19763802 20110526 RGD protein:increased expression:brain 3184 Nos1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 3184 Nos1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26383258 3184 Nos1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:1358519|PMID:11809160 19990101 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:5132632|PMID:11020342 20110531 RGD RNA, protein:increased expression:neutrophil 3184 Nos1 nitric oxide synthase 1 gene DOID:1470 major depressive disorder IEP D RGD:13825137|PMID:25001963 20181116 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:5132865|PMID:12064512 20110602 RGD mRNA:decreased expression:lung 3184 Nos1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:5132868|PMID:11890749 20110602 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619551 D RGD:5132627|PMID:14760158 20110531 RGD DNA:repeats:5'utr 3184 Nos1 nitric oxide synthase 1 gene DOID:150 disease of mental health ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17426488 3184 Nos1 nitric oxide synthase 1 gene DOID:1591 renovascular hypertension IEP D RGD:1642130|PMID:16788145 20070904 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:1596 depressive disorder ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17854383 3184 Nos1 nitric oxide synthase 1 gene DOID:1596 depressive disorder treatment IDA D RGD:13824995|PMID:20571741 20181113 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:1824 status epilepticus ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 3184 Nos1 nitric oxide synthase 1 gene DOID:1875 impotence IEP D RGD:7257656|PMID:23535456 20130828 RGD associated with Urethral Obstruction;protein:decreased expression:penis erectile tissue 3184 Nos1 nitric oxide synthase 1 gene DOID:1875 impotence treatment IDA D RGD:7244246|PMID:23698784 20130827 RGD associated with Diabetes Mellitus, Experimental 3184 Nos1 nitric oxide synthase 1 gene DOID:1875 impotence treatment IDA D RGD:7257657|PMID:23522997 20130828 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:2074 intestinal perforation ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 3184 Nos1 nitric oxide synthase 1 gene DOID:224 transient cerebral ischemia IDA D RGD:7257600|PMID:23806217 20130827 RGD protein:increased serine phosphorylation:dentate gyrus 3184 Nos1 nitric oxide synthase 1 gene DOID:231 motor neuron disease ISO RGD:619551 D RGD:5132629|PMID:12200626 20110531 RGD protein:decreased expression;motor neuron 3184 Nos1 nitric oxide synthase 1 gene DOID:2316 brain ischemia IEP D RGD:6480433|PMID:21718970 20120322 RGD protein:decreased expression:hippocampus 3184 Nos1 nitric oxide synthase 1 gene DOID:2316 brain ischemia IMP D RGD:1642142|PMID:17451676 20070905 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:10991 D RGD:1642131|PMID:16627802 20070904 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:2560 morphine dependence ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17989510 3184 Nos1 nitric oxide synthase 1 gene DOID:2786 cerebellar disease ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 3184 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:5132860|PMID:10833424 20110602 RGD DNA:repeats:exon 3184 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:5132869|PMID:10673365 20110602 RGD DNA:repeats: : 3184 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma susceptibility ISO RGD:619551 D RGD:5132615|PMID:14767694 20110527 RGD DNA:repeats:intron 3184 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma susceptibility ISO RGD:619551 D RGD:5132863|PMID:20609134 20110602 RGD DNA:repeats:intron 3184 Nos1 nitric oxide synthase 1 gene DOID:3021 acute kidney failure IEP D RGD:13825139|PMID:14531809 20181116 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:5132607|PMID:19797159 20110527 RGD mRNA, protein:increased expression:lung 3184 Nos1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:5132628|PMID:12816735 20110531 RGD protein:increased expression:skeletal muscle 3184 Nos1 nitric oxide synthase 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:increased expression:forebrain, postsynaptic density 3184 Nos1 nitric oxide synthase 1 gene DOID:5419 schizophrenia IMP D RGD:5131923|PMID:20802999 20110516 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 3184 Nos1 nitric oxide synthase 1 gene DOID:6000 congestive heart failure IEP D RGD:1581144|PMID:15466641 19990101 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:6000 congestive heart failure IEP D RGD:7257598|PMID:23832698 20130827 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:630 genetic disease ISO RGD:619551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3184 Nos1 nitric oxide synthase 1 gene DOID:670 amphetamine abuse ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15542708 3184 Nos1 nitric oxide synthase 1 gene DOID:783 end stage renal disease IEP D RGD:1642147|PMID:17200156 20070905 RGD protein:decreased expression:kidney cortex 3184 Nos1 nitric oxide synthase 1 gene DOID:783 end stage renal disease treatment IDA D RGD:7257669|PMID:23185775 20130828 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:863 nervous system disease ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 3184 Nos1 nitric oxide synthase 1 gene DOID:8947 diabetic retinopathy IEP D RGD:1642141|PMID:17545029 20070905 RGD mRNA, protein:decreased expression:retina 3184 Nos1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5132595|PMID:19291395 20110526 RGD protein:increased expression:spinal cord 3184 Nos1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5131936|PMID:20633123 20110516 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9000564 Prehypertension IEP D RGD:7257670|PMID:23172925 20130828 RGD protein:decreased expression:stellate interneuron 3184 Nos1 nitric oxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10991 D RGD:5132864|PMID:19286931 20110602 RGD protein:increased expression:lung 3184 Nos1 nitric oxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20726721 3184 Nos1 nitric oxide synthase 1 gene DOID:9000972 Fever ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 3184 Nos1 nitric oxide synthase 1 gene DOID:9001488 Human Influenza ISO RGD:10991 D RGD:5132870|PMID:9552178 20110602 RGD protein:increased expression:hippocampus 3184 Nos1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:7257655|PMID:23548923 20130828 RGD associated with Diabetes Mellitus, Type 2 3184 Nos1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment IMP D RGD:13824991|PMID:10966937 20181112 RGD associated with Diabetes Mellitus, Experimental 3184 Nos1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia IEP D RGD:7257597|PMID:23909597 20130827 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19300402 3184 Nos1 nitric oxide synthase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:5132592|PMID:19709742 20110526 RGD associated with hyperinsulinemia; protein:decreased expression:placenta 3184 Nos1 nitric oxide synthase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 3184 Nos1 nitric oxide synthase 1 gene DOID:9002669 Hypoxia ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 3184 Nos1 nitric oxide synthase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9436549|PMID:10791088 3184 Nos1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning IMP D RGD:13825130|PMID:14761684 20181115 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9003919 Urination Disorders ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9142130 3184 Nos1 nitric oxide synthase 1 gene DOID:9003936 Cardiomegaly IEP D RGD:1642136|PMID:17673519 20070904 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:1642142|PMID:17451676 20070905 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9004370 Infantile Hypertrophic Pyloric Stenosis 1 ISO RGD:619551 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 1 PMID:14757827|PMID:19851341 3184 Nos1 nitric oxide synthase 1 gene DOID:9004484 Sepsis IMP D RGD:1642148|PMID:17191663 20070905 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9004649 Heat Stroke IEP D RGD:1642129|PMID:16950411 20070904 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1642144|PMID:17347455 20070905 RGD protein:decreased dimerization:stomach 3184 Nos1 nitric oxide synthase 1 gene DOID:9005968 Neuralgia treatment IDA D RGD:7257658|PMID:23342771 20130828 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9006062 Nervous System Trauma ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10531423 3184 Nos1 nitric oxide synthase 1 gene DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:5130174|PMID:17913382 20181112 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9007096 Stroke IMP D RGD:5132594|PMID:19408167 20110526 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16344403 3184 Nos1 nitric oxide synthase 1 gene DOID:9007877 Fetal Hypoxia IEP D RGD:1642145|PMID:17310378 20070905 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9007993 Dehydration IEP D RGD:13825136|PMID:16052497 20181116 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9007996 End Stage Liver Disease ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 3184 Nos1 nitric oxide synthase 1 gene DOID:9008023 Memory Disorders IMP D RGD:1642140|PMID:17549628 20070905 RGD associated with Status Epilepticus 3184 Nos1 nitric oxide synthase 1 gene DOID:9164 achalasia ISS RGD:10991 D RGD:13592920 20180518 MouseDO OMIM:200400 3184 Nos1 nitric oxide synthase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1581689|PMID:16323284 20070904 RGD 3184 Nos1 nitric oxide synthase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:619551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 3184 Nos1 nitric oxide synthase 1 gene DOID:9970 obesity IEP D RGD:1642132|PMID:16316351 20070904 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:0050152 aspiration pneumonia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15607125 3185 Nos2 nitric oxide synthase 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10620138 3185 Nos2 nitric oxide synthase 2 gene DOID:0050589 inflammatory bowel disease IEP D RGD:5508753|PMID:21958875 20111020 RGD protein:increased expression:colon (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:730951 D RGD:4891935|PMID:18098375 20110124 RGD associated with obesity; protein:increased expression:sputum 3185 Nos2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:730951 D RGD:4891909|PMID:18413499 20110120 RGD protein:decreased expression, decreased phosphorylation:endothelial cell 3185 Nos2 nitric oxide synthase 2 gene DOID:0060001 withdrawal disorder ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19751225 3185 Nos2 nitric oxide synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:730951 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3185 Nos2 nitric oxide synthase 2 gene DOID:0060180 colitis IEP D RGD:4891411|PMID:16866779 20110112 RGD mRNA:increased expression:colon 3185 Nos2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:10996 D RGD:5509045|PMID:21930116 20111026 RGD mRNA:increased expression:colon (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8698225|PMID:17449036 3185 Nos2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy ISO RGD:10996 D RGD:4891497|PMID:19800904 20110118 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy treatment IDA D RGD:8549812|PMID:21983654 20140408 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:0080178 mucositis IEP D RGD:5509078|PMID:21846355 20111027 RGD protein:increased expression:jejunum (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:10996 D RGD:5509578|PMID:21948338 20111028 RGD mRNA, protein:increased expression:liver (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:0080784 urinary tract infection ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9011564 3185 Nos2 nitric oxide synthase 2 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2325241|PMID:15257108 20100527 RGD protein:increased enzyme activity:pancreas 3185 Nos2 nitric oxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:730951 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 3185 Nos2 nitric oxide synthase 2 gene DOID:10112 sleeping sickness IEP D RGD:4891375|PMID:20169057 20110112 RGD protein:altered activity:brain, peritoneal macrophage 3185 Nos2 nitric oxide synthase 2 gene DOID:10247 pleurisy IDA D RGD:4142808|PMID:20141620 20120322 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10247 pleurisy IEP D RGD:7175307|PMID:21898269 20111027 RGD protein:increased expression:pleural cavity (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:10320 asbestosis IEP D RGD:4891438|PMID:12051993 20110113 RGD mRNA,protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:10996 D RGD:4891441|PMID:12160931 20110113 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12160931 3185 Nos2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:10996 D RGD:4891445|PMID:15205031 20110113 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 3185 Nos2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease IDA D RGD:4891161|PMID:21163295 20110111 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:10996 D RGD:5508721|PMID:16908860 20111020 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730951 D RGD:13824978|PMID:12384247 20181109 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:1073 renal hypertension IMP D RGD:4891374|PMID:20360752 20110112 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10754 otitis media IEP D RGD:4891398|PMID:18524391 20110112 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear 3185 Nos2 nitric oxide synthase 2 gene DOID:10763 hypertension IEP D RGD:1580264|PMID:15773227 19990101 RGD protein:increased expression, increased activity:kidney 3185 Nos2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:25101153|PMID:27292124 3185 Nos2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:1298023|PMID:11702222 19990101 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:15138204|PMID:19066340 3185 Nos2 nitric oxide synthase 2 gene DOID:11044 gastroschisis IEP D RGD:5508749|PMID:21960425 20111020 RGD protein:increased expression:intestine (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis IEP D RGD:4144112|PMID:20377877 20110118 RGD mRNA:increased expression:alveolar macrophage 3185 Nos2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis IEP D RGD:4891486|PMID:20558778 20110117 RGD protein:decreased dimerization:alveolar macrophage 3185 Nos2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema IEP D RGD:4891463|PMID:16256382 20110114 RGD protein:increased expression:alveolus 3185 Nos2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema IEP D RGD:5132626|PMID:14767587 20110531 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy IEP D RGD:4891384|PMID:19241604 20110112 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea 3185 Nos2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy IMP D RGD:2313210|PMID:19587355 20090914 RGD associated with Diabetes Mellitus, Experimental 3185 Nos2 nitric oxide synthase 2 gene DOID:1176 bronchial disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 3185 Nos2 nitric oxide synthase 2 gene DOID:12217 Lewy body dementia ISO RGD:730951 D RGD:1358529|PMID:10674474 19990101 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis IEP D RGD:5509055|PMID:21903766 20111027 RGD protein:increased expression, increased activity:brain (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730951 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3185 Nos2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:7240710 20230505 OMIM 3185 Nos2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:12433515|PMID:31995689|PMID:9457101 3185 Nos2 nitric oxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18563708 3185 Nos2 nitric oxide synthase 2 gene DOID:13025 retinopathy of prematurity IEP D RGD:7257667|PMID:23204802 20130828 RGD protein:increased expression:retina 3185 Nos2 nitric oxide synthase 2 gene DOID:1307 dementia ISO RGD:730951 D RGD:1358529|PMID:10674474 19990101 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 3185 Nos2 nitric oxide synthase 2 gene DOID:13141 uveitis ISO RGD:10996 D RGD:5509582|PMID:21911582 20111028 RGD protein:increased expression:eye (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730951 D RGD:4891449|PMID:11789718 20110113 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:13413 hepatic encephalopathy IEP D RGD:5132590|PMID:19763802 20110526 RGD protein:increased expression:brain 3185 Nos2 nitric oxide synthase 2 gene DOID:13548 secondary Parkinson disease ISO RGD:730951 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:25634431 3185 Nos2 nitric oxide synthase 2 gene DOID:13580 cholestasis ISO RGD:730951 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:12612912|PMID:20626112 3185 Nos2 nitric oxide synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730951 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3185 Nos2 nitric oxide synthase 2 gene DOID:13949 interstitial cystitis IEP D RGD:4891153|PMID:21179332 20110110 RGD protein:increased expression:bladder 3185 Nos2 nitric oxide synthase 2 gene DOID:1407 anterior uveitis IEP D RGD:5508734|PMID:21976127 20111020 RGD protein:increased expression:eye (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome IDA D RGD:1580268|PMID:16601845 19990101 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8745224 3185 Nos2 nitric oxide synthase 2 gene DOID:14268 sclerosing cholangitis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12612912 3185 Nos2 nitric oxide synthase 2 gene DOID:14323 Marfan syndrome ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3185 Nos2 nitric oxide synthase 2 gene DOID:14330 Parkinson's disease ISO RGD:10996 D RGD:5509573|PMID:21970803 20111028 RGD protein:increased expression:striatum (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:1459 hypothyroidism IEP D RGD:4891143|PMID:21196918 20110110 RGD mRNA, protein:altered expression:cerebral cortex 3185 Nos2 nitric oxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:730951 D RGD:4891958|PMID:16517573 20110125 RGD mRNA,protein:decreased expression:respiratory mucosa 3185 Nos2 nitric oxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:17045617 3185 Nos2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:730951 D RGD:2325248|PMID:15165031 20100527 RGD protein:increased expression:pancreas 3185 Nos2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10996 D RGD:2325257|PMID:11687972 20100527 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10996 D RGD:2325262|PMID:11196200 20100527 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 3185 Nos2 nitric oxide synthase 2 gene DOID:1875 impotence IEP D RGD:2313212|PMID:19554009 20090914 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis 3185 Nos2 nitric oxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 3185 Nos2 nitric oxide synthase 2 gene DOID:2237 hepatitis IEP D RGD:6906896|PMID:21913985 20111026 RGD mRNA:increased expression:liver (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9778187|PMID:17394460 3185 Nos2 nitric oxide synthase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730951 D RGD:153344572|PMID:22419013 20220826 RGD protein:increased expression:colon (human) 3185 Nos2 nitric oxide synthase 2 gene DOID:2508 Takayasu's arteritis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3185 Nos2 nitric oxide synthase 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:730951 D RGD:4892082|PMID:11112135 20110203 RGD associated with lung transplantation; protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma IEP D RGD:5509073|PMID:21847581 20111027 RGD protein:increased expression, increased activity:lung (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma IMP D RGD:4891957|PMID:16540403 20110125 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19800904 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:4891419|PMID:20842520 20110112 RGD mRNA:increased expression:monocyte 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:4891508|PMID:18714530 20110118 RGD DNA:repeats:promoter 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:4891910|PMID:18254476 20110120 RGD associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma disease_progression ISO RGD:10996 D RGD:4891927|PMID:17161822 20110120 RGD protein:increased expression:lung, bronchoalveolar lavage fluid 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma no_association ISO RGD:730951 D RGD:4891953|PMID:16703578 20110125 RGD DNA:repeat:promoter 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:10996 D RGD:4891480|PMID:20841959 20110117 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:4891924|PMID:17189532 20110121 RGD DNA:repeats:promoter, introns (human) 3185 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:4891925|PMID:17177683 20110121 RGD DNA:SNP:exon:p.S608L (human) 3185 Nos2 nitric oxide synthase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:730951 D RGD:4144122|PMID:19575238 20110113 RGD DNA:SNPs:multiple (human) 3185 Nos2 nitric oxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9810145 3185 Nos2 nitric oxide synthase 2 gene DOID:3082 interstitial lung disease ISO RGD:730951 D RGD:4891449|PMID:11789718 20110113 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 3185 Nos2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:4891444|PMID:12797490 20110113 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10996 D RGD:5509065|PMID:21867702 20111027 RGD protein:increased expression:spinal cord (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:730951 D RGD:1580941|PMID:14764920 19990101 RGD associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte 3185 Nos2 nitric oxide synthase 2 gene DOID:3491 Turner syndrome ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3185 Nos2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction IEP D RGD:5508751|PMID:21959178 20111020 RGD protein:increased expression:brain (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:10996 D RGD:5509037|PMID:22020035 20111026 RGD mRNA:increased expression:brain (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10996 D RGD:2325254|PMID:12660813 20100527 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10996 D RGD:4891482|PMID:20668217 20110117 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:409 liver disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3185 Nos2 nitric oxide synthase 2 gene DOID:4483 rhinitis ISO RGD:730951 D RGD:4891910|PMID:18254476 20110120 RGD protein:increased expression:nasal mucosa 3185 Nos2 nitric oxide synthase 2 gene DOID:4676 uremia IEP D RGD:5508758|PMID:21957179 20111021 RGD protein:increased expression:kidney (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:4724 brain edema ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374494 3185 Nos2 nitric oxide synthase 2 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:6218988|PMID:21894146 20130304 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 3185 Nos2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:2325280|PMID:16094703 20100528 RGD protein:increased expression:bile duct 3185 Nos2 nitric oxide synthase 2 gene DOID:5199 ureteral obstruction ISO RGD:730951 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 3185 Nos2 nitric oxide synthase 2 gene DOID:5295 intestinal disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11713966 3185 Nos2 nitric oxide synthase 2 gene DOID:557 kidney disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18441258 3185 Nos2 nitric oxide synthase 2 gene DOID:5679 retinal disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 3185 Nos2 nitric oxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10090345|PMID:11489778 3185 Nos2 nitric oxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19168511 3185 Nos2 nitric oxide synthase 2 gene DOID:607 paraplegia IEP D RGD:5509577|PMID:21959174 20111028 RGD protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:630 genetic disease ISO RGD:730951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3185 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:10996 D RGD:4891468|PMID:11104748 20110114 RGD associated with Anoxia; mouse gene in rat model 3185 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:1580940|PMID:16456243 19990101 RGD associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium 3185 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:4891462|PMID:16813666 20110114 RGD associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human) 3185 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:5132602|PMID:19912632 20110527 RGD associated with heart disease; protein:increased expression:endothelial cell 3185 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension onset IEP D RGD:1580936|PMID:16113050 19990101 RGD associated with Anoxia; protein:increased expression:pulmonary artery 3185 Nos2 nitric oxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16157314 3185 Nos2 nitric oxide synthase 2 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1580261|PMID:15800493 19990101 RGD protein:increased expression:aorta tunica media 3185 Nos2 nitric oxide synthase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730951 D RGD:4891449|PMID:11789718 20110113 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease IEP D RGD:4891432|PMID:20144956 20110113 RGD lung injury associated with Pancreatitis, Acute Necrotizing; mRNA:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease IEP D RGD:4891454|PMID:11258566 20110113 RGD associated with Hypertension, Portal; mRNA,protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease IEP D RGD:4891457|PMID:8952535 20110113 RGD associated with Granuloma; protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease IMP D RGD:4891465|PMID:17324147 20110114 RGD acute lung injury associated with endotoxemia 3185 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:10996 D RGD:4891426|PMID:20497690 20110113 RGD lung injury associated with hyperoxia 3185 Nos2 nitric oxide synthase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923197 3185 Nos2 nitric oxide synthase 2 gene DOID:8893 psoriasis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 3185 Nos2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:2325250|PMID:14991947 20100527 RGD protein:increased expression:gallbladder 3185 Nos2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:2325251|PMID:14704000 20100527 RGD associated with Gallbladder Diseases; protein:decreased expression:gllbladder 3185 Nos2 nitric oxide synthase 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4891407|PMID:17287083 20110112 RGD mRNA:altered expression:thoracic aorta 3185 Nos2 nitric oxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15264214 3185 Nos2 nitric oxide synthase 2 gene DOID:9000169 Systemic Inflammatory Response Syndrome IEP D RGD:5508740|PMID:21975127 20111020 RGD protein:increased expression:ileum, liver (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9000197 Edema IEP D RGD:5509038|PMID:22019508 20111026 RGD protein:increased activity:serum (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9000304 Manganese Poisoning ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15010209|PMID:22174044 3185 Nos2 nitric oxide synthase 2 gene DOID:9000326 Thrombotic Microangiopathies IEP D RGD:11533936|PMID:10908153 20160913 RGD protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: 3185 Nos2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:10996 D RGD:5509046|PMID:21915076 20111026 RGD mRNA:increased expression:brainstem, basilar artery (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17053178 3185 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity IEP D RGD:4891490|PMID:20430162 20110118 RGD associated with reperfusion injury; mRNA:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity IEP D RGD:4892083|PMID:11076311 20110203 RGD protein:increased expression:lung, respiratory tract 3185 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity IMP D RGD:4891947|PMID:17607157 20110124 RGD associated with Reperfusion Injury 3185 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10996 D RGD:5132864|PMID:19286931 20110602 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10996 D RGD:2325254|PMID:12660813 20100527 RGD associated with Carcinoma, Pancreatic Ductal 3185 Nos2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730951 D RGD:2325242|PMID:15222037 20100527 RGD associated with Carcinoma, Pancreatic Ductal; protein:increased expression:pancreas 3185 Nos2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730951 D RGD:2325250|PMID:14991947 20100527 RGD associated with Gallbladder Neoplasms: protein:increased expression:gallbladder 3185 Nos2 nitric oxide synthase 2 gene DOID:9000998 Brain Injuries IEP D RGD:10395358|PMID:11526986 20150902 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:4891508|PMID:18714530 20110118 RGD DNA:repeats:promoter 3185 Nos2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:5509597|PMID:20554417 20110113 RGD mRNA:increased expression:nasal mucosa 3185 Nos2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:4891919|PMID:17674769 20110121 RGD mRNA:increased expression:olfactory epithelium 3185 Nos2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:4891937|PMID:18080188 20110124 RGD mRNA,protein:increased expression:brain 3185 Nos2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:4891952|PMID:17030871 20110125 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2325265|PMID:10784593 20100527 RGD mRNA:increased expression:heart 3185 Nos2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2325278|PMID:10353629 20100528 RGD mRNA:increased expression:aorta 3185 Nos2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18380797 3185 Nos2 nitric oxide synthase 2 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2325277|PMID:10383909 20100528 RGD protein:increased expression:liver 3185 Nos2 nitric oxide synthase 2 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:1580937|PMID:15854664 19990101 RGD mRNA, protein:increased expression:multiple 3185 Nos2 nitric oxide synthase 2 gene DOID:9001984 Fetal Diseases ISO RGD:10996 D RGD:2313217|PMID:19283362 20090914 RGD associated with Diabetes Mellitus, Experimental 3185 Nos2 nitric oxide synthase 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10996 D RGD:4891950|PMID:17056580 20110124 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17989504|PMID:19300402 3185 Nos2 nitric oxide synthase 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:5132592|PMID:19709742 20110526 RGD associated with hyperinsulinemia; protein:increased expression:placenta 3185 Nos2 nitric oxide synthase 2 gene DOID:9002395 Hypothermia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24675228 3185 Nos2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis IMP D RGD:1358527|PMID:12826065 19990101 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:10996 D RGD:5509060|PMID:21880869 20111027 RGD protein:increased expression:ankle joint (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9002467 Mycoplasma Infections ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 3185 Nos2 nitric oxide synthase 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19587355 3185 Nos2 nitric oxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10996 D RGD:5509069|PMID:21857957 19990101 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9673227 3185 Nos2 nitric oxide synthase 2 gene DOID:9002884 Emphysema ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24465666 3185 Nos2 nitric oxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16105666|PMID:21081470 3185 Nos2 nitric oxide synthase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10996 D RGD:4892078|PMID:14587983 20110203 RGD protein:increased expression:nasal mucosa 3185 Nos2 nitric oxide synthase 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 3185 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:1580938|PMID:14599979 19990101 RGD mRNA, protein:increased expression:liver 3185 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2325259|PMID:11592783 20100527 RGD mRNA:increased expression:liver 3185 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10996 D RGD:5509100|PMID:22019501 20111028 RGD protein:increased expression:venule, arteriole, endothelium (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10383581|PMID:19673871|PMID:23061969|PMID:23075401 3185 Nos2 nitric oxide synthase 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:730951 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3185 Nos2 nitric oxide synthase 2 gene DOID:9004484 Sepsis IEP D RGD:5147745|PMID:15665729 20120322 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:10996 D RGD:4891414|PMID:21184738 20110112 RGD associated with lung injury 3185 Nos2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17138957|PMID:20035746 3185 Nos2 nitric oxide synthase 2 gene DOID:9004590 Acute Liver Failure IEP D RGD:5509102|PMID:22001939 20111028 RGD protein:increased activity:liver (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9004610 Acute Lung Injury IMP D RGD:5147744|PMID:16882535 20120322 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12460898|PMID:22369883 3185 Nos2 nitric oxide synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:730951 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3185 Nos2 nitric oxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11289658|PMID:24465666 3185 Nos2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5509105|PMID:21993016 20111028 RGD associated with Infarction, Middle Cerebral Artery; protein:increased expression:brain (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16380483|PMID:16959961 3185 Nos2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association IEP D RGD:5509107|PMID:9349594 20111028 RGD protein:increased expression:renal glomerulus (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9005724 Fungal Lung Diseases IEP D RGD:4891455|PMID:10639453 20110113 RGD protein:decreased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:9005749 Necrosis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10620138|PMID:10909967 3185 Nos2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia IDA D RGD:5147779|PMID:20519137 20120322 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia IEP D RGD:4891470|PMID:16787348 20110114 RGD mRNA, protein:increased expression:intestine 3185 Nos2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12620498 3185 Nos2 nitric oxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:1580265|PMID:15144861 19990101 RGD protein:increased expression:nerve root, leukocyte, Schwann cell (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9006741 Acute Hepatitis IDA D RGD:6906896|PMID:21913985 20121019 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:730951 D RGD:4889847|PMID:17703412 20110121 RGD DNA:SNP: :rs1060826(human) 3185 Nos2 nitric oxide synthase 2 gene DOID:9007096 Stroke IEP D RGD:4891154|PMID:21171972 20110110 RGD mRNA:increased expression:brain 3185 Nos2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 3185 Nos2 nitric oxide synthase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14700523 3185 Nos2 nitric oxide synthase 2 gene DOID:9007651 Chronic Bronchitis IDA D RGD:4891494|PMID:19938219 20110118 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance IEP D RGD:5509041|PMID:22023455 20111026 RGD mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10996 D RGD:5509075|PMID:21846719 20111027 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9007730 Burns ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 3185 Nos2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5509098|PMID:21844074 19990101 RGD mRNA:decreased expression:heart (rat) 3185 Nos2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003803|PMID:12087064|PMID:14990356|PMID:19207477|PMID:20828608 3185 Nos2 nitric oxide synthase 2 gene DOID:9008 psoriatic arthritis ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 3185 Nos2 nitric oxide synthase 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:10996 D RGD:5509580|PMID:21947361 20111028 RGD mRNA:increased expression:liver (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15631943 3185 Nos2 nitric oxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12646421 3185 Nos2 nitric oxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10996 D RGD:5508848|PMID:22011580 20111025 RGD mRNA:increased expression:bone marrow macrophage (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2313220|PMID:18773271 20090914 RGD protein:increased expression:retina 3185 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10996 D RGD:5508747|PMID:21963495 20111020 RGD protein:increased expression:liver (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 3185 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730951 D RGD:2312484|PMID:19395279 20090914 RGD DNA:insertion/deletion, repeat:promoter (human) 3185 Nos2 nitric oxide synthase 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:10996 D RGD:4891506|PMID:18829681 20110118 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema IEP D RGD:4891488|PMID:20472710 20110117 RGD protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:4891415|PMID:20956973 20110112 RGD mRNA,protein:increased expression:lung 3185 Nos2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:5509103|PMID:22000010 20111028 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:10996 D RGD:2313218|PMID:18802679 20090914 RGD associated with Diabetes Mellitus, Experimental 3185 Nos2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10996 D RGD:2313214|PMID:19535454 20090914 RGD 3185 Nos2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISS RGD:10996 D RGD:13592920 20180518 MouseDO OMIM:222100 3185 Nos2 nitric oxide synthase 2 gene DOID:9767 myocardial stunning ISO RGD:730951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 3185 Nos2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:10996 D RGD:5509059|PMID:21896669 20111027 RGD protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse) 3185 Nos2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:730951 D RGD:4891935|PMID:18098375 20110124 RGD protein:increased expression:sputum 3186 Nos3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy IEP D RGD:1642825|PMID:17589825 20080411 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart 3186 Nos3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy susceptibility ISO RGD:735618 D RGD:11533642|PMID:25699607 20160908 RGD associated with Beta-Thalassemia;DNA:repeats:intron: 3186 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:4892051|PMID:20159829 20110131 RGD protein:decreased expression, decreased phosphorylation:endothelial cells 3186 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:4892052|PMID:18651156 20110131 RGD DNA:polymorphism:exon: p. E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:4892059|PMID:16806535 20110201 RGD associated with heart failure; protein:decreased expression:serum 3186 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:735618 D RGD:4891909|PMID:18413499 20110120 RGD protein:increased expression:endothelial cell 3186 Nos3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia ISO RGD:735618 D RGD:7794776|PMID:12171788 20140110 RGD human gene in rat model 3186 Nos3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment IDA D RGD:7794710|PMID:19080171 20140108 RGD associated with Diabetes Mellitus, Experimental 3186 Nos3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment IEP D RGD:13450931|PMID:28979692 20171113 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735618 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3186 Nos3 nitric oxide synthase 3 gene DOID:0060180 colitis IEP D RGD:2292124|PMID:17947450 20080410 RGD mRNA:increased expression:colon 3186 Nos3 nitric oxide synthase 3 gene DOID:0060224 atrial fibrillation ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11761419 3186 Nos3 nitric oxide synthase 3 gene DOID:0060496 respiratory allergy ISO RGD:735618 D RGD:4892054|PMID:18086269 20110131 RGD DNA:polymorphism: :c. -786C>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:0080322 polycystic kidney disease IEP D RGD:11534000|PMID:12675853 20160914 RGD protein:increased expression:kidney: 3186 Nos3 nitric oxide synthase 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 3186 Nos3 nitric oxide synthase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735618 D RGD:2292076|PMID:16458450 20080410 RGD DNA:polymorphism:exon:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia ISO RGD:735618 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 3186 Nos3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia treatment IEP D RGD:13504712|PMID:29250138 20180117 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10514107|PMID:16813604 3186 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:13824978|PMID:12384247 20181109 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:2292144|PMID:17413318 20080411 RGD human gene in rat model 3186 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 3186 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease onset ISO RGD:735618 D RGD:1358752|PMID:10514107 19990101 RGD DNA:snp:cds:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:7771573|PMID:20069064 20131219 RGD DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:7771575|PMID:9493554 20131219 RGD DNA:snp:promoter:g.-690C>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:7775039|PMID:21245953 20131231 RGD DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735618 D RGD:7775039|PMID:21245953 20131231 RGD DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:7771542|PMID:21670344 20131218 RGD associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:7771543|PMID:19815736 20131218 RGD High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:7775055|PMID:22561696 20131231 RGD DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1073 renal hypertension IDA D RGD:4891989|PMID:20938214 20110126 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension IDA D RGD:1580269|PMID:16142243 19990101 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension IEP D RGD:7794685|PMID:10889169 20140108 RGD mRNA:increased expression:aorta (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18070013 3186 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension treatment IEP D RGD:13504710|PMID:29263339 20180117 RGD associated with Liver Cirrhosis, Biliary 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension IDA D RGD:1580271|PMID:11882615 19990101 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension IEP D RGD:2292113|PMID:18047920 20080410 RGD associated with Pregnancy Complications 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension IEP D RGD:4891993|PMID:20813549 20110126 RGD protein:decreased phosphorylation:brain 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12947532|PMID:16331104|PMID:19008412|PMID:19407804 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:1580282|PMID:9674630 19990101 RGD DNA:snp:cds:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension no_association ISO RGD:735618 D RGD:1580278|PMID:10981549 20140102 RGD DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension treatment IDA D RGD:13504683|PMID:29285068 20180116 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension treatment IEP D RGD:13446414|PMID:29084084 20171107 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19066340 3186 Nos3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer treatment IEP D RGD:13446410|PMID:29095895 20171107 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3186 Nos3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:1580277|PMID:9084930 19990101 RGD DNA:repeats:intron:IVS13+?-?dupCA (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:1580280|PMID:11394896 19990101 RGD DNA:snp:cds:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:25741868 3186 Nos3 nitric oxide synthase 3 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:735618 D RGD:7771558|PMID:23276910 20131219 RGD DNA:snp:cds:c.894G>T (rs1799983) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10923 sickle cell anemia severity ISO RGD:735618 D RGD:11533647|PMID:24088668 20160909 RGD DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm IEP D RGD:5131897|PMID:21321533 20110516 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:10997 D RGD:5131897|PMID:21321533 20110516 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:10952 nephritis susceptibility ISO RGD:735618 D RGD:11533935|PMID:22895845 20160913 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:11054 urinary bladder cancer ISO RGD:735618 D RGD:2292089|PMID:10475345 20080410 RGD protein:increased expression:urinary bladder 3186 Nos3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema IEP D RGD:5132626|PMID:14767587 20110531 RGD protein:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16844920 3186 Nos3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia IEP D RGD:2292129|PMID:17895290 20080410 RGD protein:increased phosphorylation:aorta 3186 Nos3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11457755 3186 Nos3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy IEP D RGD:4891384|PMID:19241604 20110112 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea 3186 Nos3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12124201 3186 Nos3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy treatment IEP D RGD:13504708|PMID:29329611 20180117 RGD associated with Diabetes Mellitus, Experimental 3186 Nos3 nitric oxide synthase 3 gene DOID:11840 coronary artery vasospasm ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9737779|PMID:10359729 3186 Nos3 nitric oxide synthase 3 gene DOID:11840 coronary artery vasospasm ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to PMID:10359729|PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 3186 Nos3 nitric oxide synthase 3 gene DOID:12010 anterior ischemic optic neuropathy susceptibility ISO RGD:735618 D RGD:7775040|PMID:16633797 20131231 RGD DNA:snp:promoter:g.-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:12236 primary biliary cholangitis ISO RGD:735618 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3186 Nos3 nitric oxide synthase 3 gene DOID:12336 male infertility ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25517965 3186 Nos3 nitric oxide synthase 3 gene DOID:1245 vulva cancer disease_progression ISO RGD:735618 D RGD:2292078|PMID:15196865 20080410 RGD DNA:repeat:intron 3186 Nos3 nitric oxide synthase 3 gene DOID:127 leiomyoma ISO RGD:735618 D RGD:2292088|PMID:10671823 20080410 RGD protein:increased expression:smooth muscle cell 3186 Nos3 nitric oxide synthase 3 gene DOID:1272 telangiectasis susceptibility ISO RGD:735618 D RGD:2292067|PMID:18027873 20080410 RGD associated with radiation treatment of Breast Neoplasms;DNA:polymorphisms 3186 Nos3 nitric oxide synthase 3 gene DOID:12858 Huntington's disease IEP D RGD:2292130|PMID:17850874 20140103 RGD mRNA:increased expression:striatum (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:1287 cardiovascular system disease ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12947532|PMID:20610621 3186 Nos3 nitric oxide synthase 3 gene DOID:13025 retinopathy of prematurity severity ISO RGD:735618 D RGD:7771560|PMID:18334945 20131219 RGD DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13042 persistent fetal circulation syndrome ISS RGD:10997 D RGD:13592920 20180518 MouseDO OMIM:265380 3186 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:7771577|PMID:16463158 20131219 RGD DNA:snp:cds:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:7775050|PMID:21957880 20131231 RGD DNA:duplication:intron:g.IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:7771576|PMID:11908569 20131219 RGD DNA:snp:cds:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:7775048|PMID:15705632 20131231 RGD DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma ISO RGD:735618 D RGD:7771573|PMID:20069064 20131219 RGD DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:735618 D RGD:7775046|PMID:23422825 20131231 RGD DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:13580 cholestasis IEP D RGD:7775033|PMID:11352814 20131231 RGD protein:decreased activity:liver (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:735618 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3186 Nos3 nitric oxide synthase 3 gene DOID:13948 bladder neck obstruction IEP D RGD:4891960|PMID:21256554 20110125 RGD mRNA:decreased expression:urinary bladder 3186 Nos3 nitric oxide synthase 3 gene DOID:14228 oligospermia ISO RGD:735618 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 3186 Nos3 nitric oxide synthase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18344980 3186 Nos3 nitric oxide synthase 3 gene DOID:1459 hypothyroidism IEP D RGD:13504721|PMID:29214681 20180118 RGD protein:decreased activity:ovary (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:1485 cystic fibrosis ISO RGD:735618 D RGD:4892049|PMID:12406848 20110131 RGD DNA:polymorphism:exon: c. 894G>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:11533931|PMID:25263931 20160913 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: 3186 Nos3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:11533934|PMID:14687036 20160913 RGD associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1591 renovascular hypertension ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18641695 3186 Nos3 nitric oxide synthase 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735618 D RGD:2292068|PMID:17891484 20080410 RGD DNA:polymorphisms 3186 Nos3 nitric oxide synthase 3 gene DOID:1612 breast cancer no_association ISO RGD:735618 D RGD:2292075|PMID:16807677 20080410 RGD DNA:polymorphism:exon:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:735618 D RGD:2292074|PMID:17063466 20080410 RGD DNA:polymorphism:promoter:-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence IEP D RGD:2292142|PMID:17420087 20080411 RGD associated with Cocaine-Related Disorders;protein:decreased expression:penis 3186 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence IEP D RGD:4891999|PMID:20807325 20110126 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression, decreased activity 3186 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12002441|PMID:17071732 3186 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence treatment IEP D RGD:13504711|PMID:29260891 20180117 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:10997 D RGD:7771607|PMID:12163452 20131220 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 3186 Nos3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis susceptibility ISO RGD:735618 D RGD:7771564|PMID:21114134 20131219 RGD DNA:snp:exon:c.894G>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:2018 hyperinsulinism ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19008412 3186 Nos3 nitric oxide synthase 3 gene DOID:2074 intestinal perforation ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 3186 Nos3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia IEP D RGD:13503353|PMID:29298658 20180115 RGD protein:increased expression:serum (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:13503330|PMID:29312485 20180111 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13450951|PMID:28944915 20171114 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:2316 brain ischemia IDA D RGD:4891961|PMID:21212863 20110125 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:2316 brain ischemia IMP D RGD:2292134|PMID:17600658 20080410 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:2349 arteriosclerosis ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14736551 3186 Nos3 nitric oxide synthase 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735618 D RGD:2298575|PMID:12144818 20080711 RGD DNA:repeat:intron 3186 Nos3 nitric oxide synthase 3 gene DOID:2799 bronchiolitis obliterans IEP D RGD:4892068|PMID:15136885 20110201 RGD protein:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:4892053|PMID:18486767 20110131 RGD DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:4892058|PMID:16837812 20110201 RGD DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:4892062|PMID:16081038 20110201 RGD DNA:repeats:intron 3186 Nos3 nitric oxide synthase 3 gene DOID:2843 long QT syndrome ISO RGD:735618 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 3186 Nos3 nitric oxide synthase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:735618 D RGD:2292090|PMID:9276029 20080410 RGD protein:increased expression:endometrium 3186 Nos3 nitric oxide synthase 3 gene DOID:299 adenocarcinoma ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 3186 Nos3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure IEP D RGD:13450947|PMID:28947737 20171114 RGD in females;mRNA:increased expression:cortex of kidney (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 3186 Nos3 nitric oxide synthase 3 gene DOID:3070 high grade glioma ISO RGD:735618 D RGD:2292080|PMID:14672505 20080411 RGD protein:increased expression:blood vessel endothelial cell 3186 Nos3 nitric oxide synthase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 3186 Nos3 nitric oxide synthase 3 gene DOID:326 ischemia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15036356 3186 Nos3 nitric oxide synthase 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735618 D RGD:4892080|PMID:11306434 20110203 RGD protein:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:14989558|PMID:17267746|PMID:19696404 3186 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:7421529|PMID:8564837 20131120 RGD DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:7771567|PMID:16284093 20131219 RGD DNA:snp:cds:c.894G>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:7771578|PMID:19761682 20131219 RGD DNA:snp:promoter:g.-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:3426 vestibular disease ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 3186 Nos3 nitric oxide synthase 3 gene DOID:3526 cerebral infarction ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9737779|PMID:9894802 3186 Nos3 nitric oxide synthase 3 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:13504720|PMID:29216632 20180118 RGD protein:decreased expression:pulmonary artery (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:4195 hyperglycemia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 3186 Nos3 nitric oxide synthase 3 gene DOID:4449 macular retinal edema susceptibility ISO RGD:735618 D RGD:7775044|PMID:15333482 20131231 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:4676 uremia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 3186 Nos3 nitric oxide synthase 3 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:735618 D RGD:126925218|PMID:21472143 20210515 RGD DNA:SNP:3'utr: (rs2070744) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis IEP D RGD:7775034|PMID:10535886 20131231 RGD protein:decreased activity:liver (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis treatment IDA D RGD:7794774|PMID:12759254 20140110 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:5199 ureteral obstruction ISO RGD:735618 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 3186 Nos3 nitric oxide synthase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735618 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction IDA D RGD:7771563|PMID:22012955 20131219 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction IEP D RGD:13450930|PMID:28980197 20171113 RGD protein:decreased expression:aorta (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:16337503 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:1580283|PMID:12362496 19990101 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:1580284|PMID:11903359 19990101 RGD DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:7771561|PMID:17637430 20131219 RGD human gene in rat model 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735618 D RGD:5128481|PMID:10531147 20110304 RGD DNA:repeats:intron 3186 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:10997 D RGD:13503346|PMID:29311930 20180112 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19168511|PMID:20304815 3186 Nos3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure treatment IEP D RGD:13504746|PMID:29351461 20180122 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:62 aortic valve disease ISS RGD:10997 D RGD:13592920 20180518 MouseDO 3186 Nos3 nitric oxide synthase 3 gene DOID:630 genetic disease ISO RGD:735618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3186 Nos3 nitric oxide synthase 3 gene DOID:6364 migraine ISO RGD:735618 D RGD:7771539|PMID:16123422 20131218 RGD associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension IDA D RGD:4892038|PMID:20215577 20110128 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension IEP D RGD:4892004|PMID:20724942 20110126 RGD mRNA, protein:increased expression:pulmonary endothelial cell 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension IMP D RGD:4892043|PMID:17065228 20110128 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:4892039|PMID:19487814 20110128 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:5132631|PMID:11686901 20110531 RGD RNA:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21144100 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:4892009|PMID:21144100 20110127 RGD DNA:polymorphism:cds:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:4892010|PMID:21111729 20110127 RGD protein:increased expression:arteriole 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:4892042|PMID:18953956 20110128 RGD associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:5132602|PMID:19912632 20110527 RGD associated with heart disease; protein:increased expression:endothelial cell 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:735618 D RGD:11533642|PMID:25699607 20160908 RGD associated with Beta-Thalassemia;DNA:repeats:intron: 3186 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension treatment IDA D RGD:13504742|PMID:29151278 20180122 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:654 overnutrition IEP D RGD:13450942|PMID:28958692 20171114 RGD mRNA:decreased expression:renal artery (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:674 cleft palate ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 3186 Nos3 nitric oxide synthase 3 gene DOID:783 end stage renal disease IEP D RGD:2292109|PMID:18089446 20080410 RGD protein:decreased expression:glomerulus 3186 Nos3 nitric oxide synthase 3 gene DOID:783 end stage renal disease susceptibility ISO RGD:735618 D RGD:7777097|PMID:12701818 20140102 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease susceptibility IEP D RGD:13450920|PMID:29018182 20171108 RGD mRNA:decreased expression:cortex of kidney (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease treatment IEP D RGD:13504713|PMID:29247650 20180117 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:8440 ileus treatment IEP D RGD:151893492|PMID:30852906 20220421 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration IEP D RGD:7775035|PMID:16209285 20131231 RGD protein:increased expression:retina (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration treatment IDA D RGD:7775035|PMID:16209285 20131231 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:850 lung disease IEP D RGD:4892011|PMID:21056587 20110127 RGD lung injury associated with reperfusion injury; protein:decreased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:4891426|PMID:20497690 20110113 RGD lung injury associated with hyperoxia 3186 Nos3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:4892013|PMID:20453164 20110127 RGD ventilator-induced lung injury 3186 Nos3 nitric oxide synthase 3 gene DOID:865 vasculitis susceptibility ISO RGD:735618 D RGD:7775052|PMID:14583572 20131231 RGD DNA:polymorphism:exon:p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy IEP D RGD:7771569|PMID:23059402 20131219 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:7421532|PMID:11918626 20131120 RGD associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:7421533|PMID:17973941 20131120 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:7421531|PMID:16581274 20131120 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:7775042|PMID:17558849 20131231 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:7777101|PMID:22017289 20140102 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy onset ISO RGD:735618 D RGD:7771565|PMID:15890549 20131219 RGD DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy severity ISO RGD:10997 D RGD:7771568|PMID:20435587 20131219 RGD associated with Diabetes Mellitus, Experimental 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735618 D RGD:7777103|PMID:23776381 20140102 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy treatment IDA D RGD:7771606|PMID:18840783 20131220 RGD associated with Diabetes Mellitus, Experimental 3186 Nos3 nitric oxide synthase 3 gene DOID:900 hepatopulmonary syndrome IEP D RGD:2292110|PMID:18081228 20080410 RGD associated with Liver Cirrhosis;protein:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4891407|PMID:17287083 20110112 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:735618 D RGD:2292070|PMID:17262178 20080410 RGD associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 3186 Nos3 nitric oxide synthase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3186 Nos3 nitric oxide synthase 3 gene DOID:9000326 Thrombotic Microangiopathies IEP D RGD:11533936|PMID:10908153 20160913 RGD protein:decreased expression:kidney: 3186 Nos3 nitric oxide synthase 3 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:7794687|PMID:11273938 20140108 RGD mRNA:increased expression:parietal cortex, arteriole (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9000641 Pain IMP D RGD:2292111|PMID:18079061 20080410 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9000669 Ventricular Dysfunction, Right IMP D RGD:4892044|PMID:16820570 20110128 RGD associated with Hypertension, Pulmonary 3186 Nos3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:4892061|PMID:16714207 20110201 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:5132864|PMID:19286931 20110602 RGD protein:decreased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735618 D RGD:2292080|PMID:14672505 20080411 RGD protein:increased expression:blood vessel endothelial cell 3186 Nos3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:2292081|PMID:14623178 20080410 RGD associated with Breast Neoplasms;DNA:polymorphism:promoter:-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:2292087|PMID:12445681 20080410 RGD associated with Prostatic Neoplasms;DNA:polymorphism 3186 Nos3 nitric oxide synthase 3 gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:2292105|PMID:18205898 20080410 RGD protein:increased expression:testis 3186 Nos3 nitric oxide synthase 3 gene DOID:9001472 Nasal Polyps ISO RGD:735618 D RGD:7771559|PMID:15942806 20131219 RGD protein:increased expression:nasal mucosa (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9001553 Spinal Cord Compression treatment IEP D RGD:13504709|PMID:29323048 20180117 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2292126|PMID:17918268 20080410 RGD protein:decreased expression:liver 3186 Nos3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2292140|PMID:17481668 20080411 RGD protein:decreased expression:spleen 3186 Nos3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18555214 3186 Nos3 nitric oxide synthase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11745998 3186 Nos3 nitric oxide synthase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 3186 Nos3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:1580937|PMID:15854664 20080410 RGD mRNA:increased expression: :multiple 3186 Nos3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock treatment IEP D RGD:13450929|PMID:29122552 20171113 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7771570|PMID:9950605 20131219 RGD mRNA:altered expression:retina (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7775037|PMID:12634478 20131231 RGD protein:increased expression:retinal vasculature, retinal ganglion cell layer (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:7775036|PMID:11496119 20131231 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9001955 Diabetic Gastroparesis IEP D RGD:13446417|PMID:29071981 20171107 RGD mRNA:decreased expression:pyloric antrum (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:13450941|PMID:28966130 20171114 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20042665 3186 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735618 D RGD:7421534|PMID:10741691 20131120 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735618 D RGD:7421530|PMID:10868974 20131120 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13504726|PMID:29336891 20180118 RGD associated with Diabetes Mellitus, Experimental 3186 Nos3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:13792602|PMID:29741931 20180917 RGD RNA, protein:increased expression:thoracic aorta: 3186 Nos3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:5132592|PMID:19709742 20110526 RGD associated with hyperinsulinemia; protein:decreased expression:placenta 3186 Nos3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:735618 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:22421449|PMID:23667712 3186 Nos3 nitric oxide synthase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12429631|PMID:12445681|PMID:16458450 3186 Nos3 nitric oxide synthase 3 gene DOID:9002321 Teratozoospermia ISO RGD:735618 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 3186 Nos3 nitric oxide synthase 3 gene DOID:9002371 Cardiotoxicity treatment ISO RGD:735618 D RGD:11533645|PMID:26345518 20160909 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism: :894G>T(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:13504725|PMID:29337196 20180118 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9002669 Hypoxia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 3186 Nos3 nitric oxide synthase 3 gene DOID:9003104 Intracranial Hemorrhages treatment IMP D RGD:13504724|PMID:29203281 20180118 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9003121 Thromboembolism susceptibility ISO RGD:735618 D RGD:5128481|PMID:10531147 20110304 RGD DNA:repeats:intron 3186 Nos3 nitric oxide synthase 3 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735618 D RGD:11533931|PMID:25263931 20160913 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: 3186 Nos3 nitric oxide synthase 3 gene DOID:9003230 Graft Occlusion, Vascular susceptibility ISO RGD:735618 D RGD:11533930|PMID:17365407 20160913 RGD DNA:repeats:intron 3186 Nos3 nitric oxide synthase 3 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735618 D RGD:4892054|PMID:18086269 20131218 RGD DNA:snp:promoter:g.-786T>C (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9003817 Sudden Hearing Loss ISO RGD:735618 D RGD:7771541|PMID:23560644 20131218 RGD DNA:snp:cds:p.E298D (rs1799983) (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735618 D RGD:11533639|PMID:23922896 20160908 RGD associated with orthopedic surgery;DNA:SNP::rs1799983(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly IEP D RGD:2289120|PMID:17487232 20080411 RGD protein:increased expression:aorta 3186 Nos3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11504159|PMID:12224825|PMID:16844920|PMID:17487232 3186 Nos3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:13504707|PMID:29331788 20180117 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21968084 3186 Nos3 nitric oxide synthase 3 gene DOID:9004240 Phyllodes Tumor ISO RGD:735618 D RGD:2292077|PMID:15917410 20080410 RGD protein:increased expression:breast 3186 Nos3 nitric oxide synthase 3 gene DOID:9004250 Hepatic Insufficiency ISO RGD:735618 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3186 Nos3 nitric oxide synthase 3 gene DOID:9004283 Transplant Rejection treatment IEP D RGD:13504718|PMID:29218089 20180118 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20035746 3186 Nos3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:2292119|PMID:17999941 20080410 RGD protein:increased expression:heart 3186 Nos3 nitric oxide synthase 3 gene DOID:9004590 Acute Liver Failure IEP D RGD:2292148|PMID:17276928 20080411 RGD mRNA, protein:increased expression:liver 3186 Nos3 nitric oxide synthase 3 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:7794715|PMID:9747440 20140108 RGD mRNA, protein:altered expression:cardiac myocyte (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9004756 Brain Hypoxia IEP D RGD:7794714|PMID:14980808 20140108 RGD protein:increased expression:caudate putamen (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11761419 3186 Nos3 nitric oxide synthase 3 gene DOID:9005369 Hepatomegaly ISO RGD:735618 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 3186 Nos3 nitric oxide synthase 3 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:735618 D RGD:11534002|PMID:9576106 20160914 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:2292146|PMID:17344190 20080411 RGD protein:increased expression:vena cava 3186 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:4892007|PMID:18825362 20110126 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2292100|PMID:18287592 20080410 RGD protein:increased expression:heart 3186 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10997 D RGD:7777108|PMID:21050844 20140102 RGD protein:decreased expression:thoracic aorta (mouse) 3186 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11696579|PMID:14871415|PMID:15490108|PMID:16959961|PMID:18266981|PMID:19478208|PMID:22191573|PMID:22933112 3186 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:13450939|PMID:28976888 20171113 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:10997 D RGD:7777108|PMID:21050844 20140102 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9005930 Endotoxemia IEP D RGD:7794732|PMID:10462376 20140108 RGD protein:increased expression:aorta (rat) 3186 Nos3 nitric oxide synthase 3 gene DOID:9006102 Right Ventricular Hypertrophy treatment IDA D RGD:7794708|PMID:22022327 20140108 RGD associated with Hypertension, Pulmonary 3186 Nos3 nitric oxide synthase 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:11533933|PMID:9950873 20160913 RGD mRNA,protein:increased expression:pulmonary artery 3186 Nos3 nitric oxide synthase 3 gene DOID:9006182 Carotid Artery Injuries treatment IEP D RGD:13504723|PMID:29207649 20180118 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:13504682|PMID:29291552 20180116 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9006599 Hypertriglyceridemia IEP D RGD:2292131|PMID:17824809 20080410 RGD protein:decreased expression:aorta 3186 Nos3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome IMP D RGD:13450928|PMID:29127233 20171113 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12947532|PMID:15269839|PMID:20876122 3186 Nos3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735618 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:28361419 3186 Nos3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome treatment IDA D RGD:13461762|PMID:28967023 20171127 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9006738 Hypertension Resistant to Conventional Therapy ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension resistant to conventional therapy PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 3186 Nos3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury IMP D RGD:4892012|PMID:20815765 20110127 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:10997 D RGD:11533932|PMID:25382268 20160913 RGD mRNA:increased expression:lung (mouse) 3186 Nos3 nitric oxide synthase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:13504685|PMID:29274332 20180116 RGD associated with Diabetes Mellitus, Experimental 3186 Nos3 nitric oxide synthase 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11761419 3186 Nos3 nitric oxide synthase 3 gene DOID:9007096 Stroke IEP D RGD:2292103|PMID:18234158 20080410 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007096 Stroke susceptibility ISO RGD:735618 D RGD:11533931|PMID:25263931 20160913 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: 3186 Nos3 nitric oxide synthase 3 gene DOID:9007096 Stroke treatment IEP D RGD:13504814|PMID:29152647 20180124 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12354446 3186 Nos3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic heart disease, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 3186 Nos3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735618 D RGD:7777100|PMID:15007011 20140102 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:735618 D RGD:11533937|PMID:23612386 20160913 RGD associated withPrecursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymprphism,haplotype: :-786T>C(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9007480 Hyperoxia IEP D RGD:2292125|PMID:17937862 20080410 RGD mRNA, protein:decreased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance IEP D RGD:2292098|PMID:18298918 20080410 RGD protein:decreased expression:serum 3186 Nos3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12716763|PMID:12947532|PMID:19008412 3186 Nos3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:13450950|PMID:28946194 20171114 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment IDA D RGD:7777112|PMID:16610051 20140102 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:4891991|PMID:20828747 20110126 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2292091|PMID:18390819 20080410 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12354446 3186 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13503347|PMID:29299201 20180112 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13504684|PMID:29274587 20180116 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9007970 Chronic Cerebral Hypoperfusion IMP D RGD:13824977|PMID:15703700 20181109 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735618 D RGD:5131286|PMID:20811626 20101230 RGD associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15375496|PMID:19671875 3186 Nos3 nitric oxide synthase 3 gene DOID:9009039 Hyperemia ISO RGD:735618 D RGD:7777102|PMID:11668050 20180126 RGD DNA:SNP: :894G>T (human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia IEP D RGD:5132862|PMID:7576705 20110602 RGD mRNA, protein:decreased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7576705|PMID:8863223 3186 Nos3 nitric oxide synthase 3 gene DOID:9009107 Drug-Induced Enteropathy treatment IDA D RGD:13450913|PMID:29064425 20171108 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735618 D RGD:11533640|PMID:24684492 20160908 RGD DNA:polymorphgism: : 894 G>T(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9220 central sleep apnea ISO RGD:735618 D RGD:4892059|PMID:16806535 20110201 RGD associated with heart failure; protein:decreased expression:serum 3186 Nos3 nitric oxide synthase 3 gene DOID:9296 cleft lip ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 3186 Nos3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2292097|PMID:18356581 20080410 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12716763|PMID:16959961 3186 Nos3 nitric oxide synthase 3 gene DOID:9477 pulmonary embolism IEP D RGD:2292151|PMID:17219957 20080411 RGD mRNA, protein:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10997 D RGD:4892061|PMID:16714207 20110201 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9667 placental abruption ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11354626 3186 Nos3 nitric oxide synthase 3 gene DOID:9675 pulmonary emphysema ISO RGD:10997 D RGD:4891415|PMID:20956973 20110112 RGD mRNA,protein:increased expression:lung 3186 Nos3 nitric oxide synthase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 3186 Nos3 nitric oxide synthase 3 gene DOID:9778 irritable bowel syndrome IDA D RGD:7771566|PMID:23691109 20131219 RGD 3186 Nos3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735618 D RGD:11533646|PMID:20510681 20160909 RGD DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:735618 D RGD:11533639|PMID:23922896 20160908 RGD DNA:SNP: :rs3918186(human) 3186 Nos3 nitric oxide synthase 3 gene DOID:9970 obesity IEP D RGD:2292133|PMID:17623751 20080410 RGD protein:decreased expression:artery 3186 Nos3 nitric oxide synthase 3 gene DOID:9970 obesity treatment IEP D RGD:13504728|PMID:29180887 20180119 RGD 3187 Notch1 notch receptor 1 gene DOID:0050145 adenoiditis ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chronic adenoiditis PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737367 D RGD:1580759|PMID:16707600 19990101 RGD DNA:mutations:multiple (human) 3187 Notch1 notch receptor 1 gene DOID:0050777 Joubert syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:10998 D RGD:151347668|PMID:30624777 20220131 RGD protein:increased expression:tongue (mouse) 3187 Notch1 notch receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737367 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3187 Notch1 notch receptor 1 gene DOID:0060058 lymphoma ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18798262 3187 Notch1 notch receptor 1 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:737367 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3187 Notch1 notch receptor 1 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:24728327|PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0060249 scoliosis ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 3187 Notch1 notch receptor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 3187 Notch1 notch receptor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 3187 Notch1 notch receptor 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737367 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 3187 Notch1 notch receptor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737367 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30455415 3187 Notch1 notch receptor 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:24728327|PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:1580758|PMID:16025100 19990101 RGD DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human) 3187 Notch1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:7240710 20160803 OMIM 3187 Notch1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:16025100|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:23578328|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25132448|PMID:25260786|PMID:25326637|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33110418|PMID:33914609|PMID:33994118|PMID:35101336|PMID:35288444|PMID:9536098 3187 Notch1 notch receptor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 3187 Notch1 notch receptor 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:10485 esophageal atresia ISO RGD:737367 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 3187 Notch1 notch receptor 1 gene DOID:10629 microphthalmia ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868|PMID:26893459|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737367 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:25741868|PMID:27993330|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:13025 retinopathy of prematurity treatment IEP D RGD:155663485|PMID:30652694 20221117 RGD 3187 Notch1 notch receptor 1 gene DOID:1380 endometrial cancer ISO RGD:737367 D RGD:2299153|PMID:11078798 20080813 RGD mRNA:increased expression:endometrium 3187 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28166811|PMID:28387797|PMID:28492532|PMID:30059548|PMID:30609409|PMID:32748548 3187 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 3187 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 3187 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 3187 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 3187 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 3187 Notch1 notch receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:737367 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 3187 Notch1 notch receptor 1 gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:1682 congenital heart disease ISO RGD:737367 D RGD:155663353|PMID:31813956 20221111 RGD DNA:polymorphisms: :(human) 3187 Notch1 notch receptor 1 gene DOID:1682 congenital heart disease ISO RGD:737367 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:17662764|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:30609409 3187 Notch1 notch receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737367 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 3187 Notch1 notch receptor 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10998 D RGD:2325328|PMID:17297654 20100601 RGD protein:increased expression:pancreas 3187 Notch1 notch receptor 1 gene DOID:182 calcinosis ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 3187 Notch1 notch receptor 1 gene DOID:1826 epilepsy ISO RGD:737367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3187 Notch1 notch receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10998 D RGD:155663380|PMID:30909142 20221115 RGD 3187 Notch1 notch receptor 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737367 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 3187 Notch1 notch receptor 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155663419|PMID:30258350 20221116 RGD 3187 Notch1 notch receptor 1 gene DOID:255 hemangioma ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868 3187 Notch1 notch receptor 1 gene DOID:264 hemangiopericytoma ISO RGD:737367 D RGD:155663351|PMID:26951238 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe 3187 Notch1 notch receptor 1 gene DOID:3068 glioblastoma ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 3187 Notch1 notch receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 3187 Notch1 notch receptor 1 gene DOID:3149 keratoacanthoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 3187 Notch1 notch receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10998 D RGD:13524575|PMID:26067594 20180423 RGD protein:increased expression:spinal chord 3187 Notch1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10998 D RGD:2325323|PMID:20484026 20100601 RGD 3187 Notch1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10998 D RGD:2325324|PMID:19028876 20100601 RGD 3187 Notch1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 3187 Notch1 notch receptor 1 gene DOID:3652 Leigh disease ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737367 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 3187 Notch1 notch receptor 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:155663660|PMID:27982686 20221130 RGD protein:increased expression:lung 3187 Notch1 notch receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737367 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:20007775|PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:3910 lung adenocarcinoma treatment IEP D RGD:155663482|PMID:33628824 20221117 RGD 3187 Notch1 notch receptor 1 gene DOID:4079 heart valve disease ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 3187 Notch1 notch receptor 1 gene DOID:4556 lung large cell carcinoma treatment IEP D RGD:155663482|PMID:33628824 20221117 RGD 3187 Notch1 notch receptor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737367 D RGD:2325330|PMID:15887117 20100601 RGD protein:increased expression:cholangiocyte 3187 Notch1 notch receptor 1 gene DOID:5409 lung small cell carcinoma treatment IEP D RGD:155663482|PMID:33628824 20221117 RGD 3187 Notch1 notch receptor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737367 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:19318552|PMID:21498710|PMID:24394663|PMID:28671688 3187 Notch1 notch receptor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737367 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:25585350 3187 Notch1 notch receptor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737367 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 3187 Notch1 notch receptor 1 gene DOID:62 aortic valve disease ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AORTIC VALVE DISEASE PMID:18593716|PMID:20981092|PMID:25260786|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441|PMID:31624253 3187 Notch1 notch receptor 1 gene DOID:630 genetic disease ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18660822|PMID:22326375|PMID:24728327|PMID:25741868|PMID:27283355|PMID:28492532|PMID:9336830 3187 Notch1 notch receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737367 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 3187 Notch1 notch receptor 1 gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:10998 D RGD:155646132|PMID:34739767 20221108 RGD 3187 Notch1 notch receptor 1 gene DOID:649 prion disease ISO RGD:10998 D RGD:13782159|PMID:15640354 20180824 RGD 3187 Notch1 notch receptor 1 gene DOID:65 connective tissue disease ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16729972|PMID:17662764|PMID:18593716|PMID:20951801|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:26188975|PMID:26820064|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548|PMID:33914609|PMID:33994118 3187 Notch1 notch receptor 1 gene DOID:863 nervous system disease ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 3187 Notch1 notch receptor 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:10998 D RGD:155663348|PMID:30787185 20221110 RGD 3187 Notch1 notch receptor 1 gene DOID:9000713 Surgical Wound ameliorates ISO RGD:10998 D RGD:155646129|PMID:30886104 20221108 RGD associated with diabetes mellitus; 3187 Notch1 notch receptor 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:737367 D RGD:155646133|PMID:23870033 20221108 RGD mRNA:decreased expression:liver 3187 Notch1 notch receptor 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2325310|PMID:18942116 20100528 RGD protein:increased expression:liver 3187 Notch1 notch receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737367 D RGD:155646132|PMID:34739767 20221108 RGD protein:decreased expression:endothelial cell, nucleus: 3187 Notch1 notch receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:18593716|PMID:20981092|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:29641532|PMID:30059548|PMID:30582441|PMID:35288444 3187 Notch1 notch receptor 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, folate-responsive 3187 Notch1 notch receptor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:16025100|PMID:25132448|PMID:25741868 3187 Notch1 notch receptor 1 gene DOID:9002720 Splenomegaly ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25585350 3187 Notch1 notch receptor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 3187 Notch1 notch receptor 1 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:18593716|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441 3187 Notch1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:155663361|PMID:24219762 20221111 RGD protein:increased expression:intestine: 3187 Notch1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:155663363|PMID:21955427 20221111 RGD protein:increased expression:serum: 3187 Notch1 notch receptor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 3187 Notch1 notch receptor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:10998 D RGD:155663352|PMID:23188126 20221111 RGD 3187 Notch1 notch receptor 1 gene DOID:9004077 SHONE COMPLEX ISO RGD:737367 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Shone complex PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737367 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 3187 Notch1 notch receptor 1 gene DOID:9004397 calcification of aortic valve ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16025100 3187 Notch1 notch receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737367 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 3187 Notch1 notch receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression IEP D RGD:155791448|PMID:31209505 20221219 RGD 3187 Notch1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:7240710 20160713 OMIM 3187 Notch1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:15959515|PMID:16025100|PMID:16199547|PMID:1621771|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19597493|PMID:19668216|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:22307742|PMID:22318994|PMID:23034536|PMID:23040356|PMID:23102684|PMID:23386033|PMID:23578328|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25516202|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27077170|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28125082|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29447731|PMID:29555671|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30919572|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 3187 Notch1 notch receptor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 3187 Notch1 notch receptor 1 gene DOID:9006175 Peritoneal Diseases IMP D RGD:2325288|PMID:20056840 20100528 RGD mRNA:increased expression: : 3187 Notch1 notch receptor 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:625426|PMID:11971902 20150324 RGD 3187 Notch1 notch receptor 1 gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:155641250|PMID:32089723 20221104 RGD 3187 Notch1 notch receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737367 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:30394310 3187 Notch1 notch receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 3187 Notch1 notch receptor 1 gene DOID:9008212 Diabetic Foot ISO RGD:737367 D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin, epidermis: 3187 Notch1 notch receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 3187 Notch1 notch receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 3187 Notch1 notch receptor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:24728327|PMID:25741868|PMID:28492532|PMID:30511478 3188 Notch2 notch receptor 2 gene DOID:0050722 PHGDH deficiency ISO RGD:733357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 3188 Notch2 notch receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733357 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3188 Notch2 notch receptor 2 gene DOID:0080205 CAKUT ISO RGD:733357 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868 3188 Notch2 notch receptor 2 gene DOID:10487 Hirschsprung's disease ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:25741868|PMID:28492532 3188 Notch2 notch receptor 2 gene DOID:10591 pre-eclampsia ISS RGD:736047 D RGD:13592920 20180518 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 3188 Notch2 notch receptor 2 gene DOID:1074 kidney failure ISO RGD:733357 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 3188 Notch2 notch receptor 2 gene DOID:14679 VACTERL association ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:25741868|PMID:28492532 3188 Notch2 notch receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:733357 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 3188 Notch2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378985|PMID:21378989 3188 Notch2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:7240710 20141015 OMIM 3188 Notch2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME PMID:16773578|PMID:17159511|PMID:17576681|PMID:21378985|PMID:21378989|PMID:21681853|PMID:21712856|PMID:22209762|PMID:22891273|PMID:22891276|PMID:24728327|PMID:25741868|PMID:25741915|PMID:26184537|PMID:27312922|PMID:27592446|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31130284|PMID:31595186|PMID:32164334|PMID:32341259|PMID:32368696|PMID:33448881|PMID:8723560|PMID:8755249|PMID:9536098 3188 Notch2 notch receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:733357 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 3188 Notch2 notch receptor 2 gene DOID:3068 glioblastoma ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 3188 Notch2 notch receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 3188 Notch2 notch receptor 2 gene DOID:3149 keratoacanthoma ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 3188 Notch2 notch receptor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733357 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 3188 Notch2 notch receptor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 3188 Notch2 notch receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733357 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3188 Notch2 notch receptor 2 gene DOID:630 genetic disease ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3188 Notch2 notch receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733357 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 3188 Notch2 notch receptor 2 gene DOID:9000784 Fibrosis ISO RGD:733357 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 3188 Notch2 notch receptor 2 gene DOID:9000812 Acroosteolysis Dominant Type ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:24728327|PMID:25741868|PMID:28492532|PMID:28566479|PMID:28776642 3188 Notch2 notch receptor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733357 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 3188 Notch2 notch receptor 2 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 3188 Notch2 notch receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 3188 Notch2 notch receptor 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:733357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:24728327|PMID:25741868|PMID:28492532 3188 Notch2 notch receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:733357 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 3188 Notch2 notch receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733357 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 3188 Notch2 notch receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 3188 Notch2 notch receptor 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733357 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 3188 Notch2 notch receptor 2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:625426|PMID:11971902 20150324 RGD 3188 Notch2 notch receptor 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249 3188 Notch2 notch receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 3188 Notch2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:1580762|PMID:16773578 19990101 RGD 3188 Notch2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:7240710 20130221 OMIM 3188 Notch2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 PMID:16773578|PMID:24728327|PMID:25016221|PMID:25741868|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31749841 3188 Notch2 notch receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 3188 Notch2 notch receptor 2 gene DOID:9538 multiple myeloma ISO RGD:733357 D RGD:1580763|PMID:14726396 19990101 RGD protein:increased expression:bone marrow (human) 3191 Nup50 nucleoporin 50 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736309 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 3191 Nup50 nucleoporin 50 gene DOID:1059 intellectual disability ISO RGD:736309 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3191 Nup50 nucleoporin 50 gene DOID:630 genetic disease ISO RGD:736309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3192 Npm1 nucleophosmin 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:735682 D RGD:1600902|PMID:15659732 20070330 RGD 3192 Npm1 nucleophosmin 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:735682 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:15659725|PMID:20026798|PMID:32581362 3192 Npm1 nucleophosmin 1 gene DOID:0050908 myelodysplastic syndrome ISS RGD:11000 D RGD:13592920 20180518 MouseDO OMIM:614286 3192 Npm1 nucleophosmin 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735682 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14508522|PMID:26285909 3192 Npm1 nucleophosmin 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735682 D RGD:1600902|PMID:15659732 20070330 RGD 3192 Npm1 nucleophosmin 1 gene DOID:0070004 myeloid neoplasm ISO RGD:11000 D RGD:11534989|PMID:23226219 20160916 RGD DNA:insertion mutation:cds:c.854_857dupTCTG(mouse) 3192 Npm1 nucleophosmin 1 gene DOID:0080074 neural tube defect ISO RGD:735682 D RGD:1600902|PMID:15659732 20070330 RGD 3192 Npm1 nucleophosmin 1 gene DOID:10908 hydrocephalus ISO RGD:735682 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 3192 Npm1 nucleophosmin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11000 D RGD:11535018|PMID:21444791 20160919 RGD protein:increased expression:cardiomyocyte: 3192 Npm1 nucleophosmin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:735682 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570891 3192 Npm1 nucleophosmin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735682 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3192 Npm1 nucleophosmin 1 gene DOID:5844 myocardial infarction ISO RGD:11000 D RGD:11535018|PMID:21444791 20160919 RGD protein:increased expression:cardiomyocyte: 3192 Npm1 nucleophosmin 1 gene DOID:630 genetic disease ISO RGD:735682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3192 Npm1 nucleophosmin 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735682 D RGD:1600902|PMID:15659732 20070330 RGD 3192 Npm1 nucleophosmin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735682 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10619186 3192 Npm1 nucleophosmin 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:735682 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 3192 Npm1 nucleophosmin 1 gene DOID:9006205 Animal Disease Models ISO RGD:735682 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3192 Npm1 nucleophosmin 1 gene DOID:9008691 Liver Injury disease_progression IEP D RGD:11534994|PMID:14635188 20160916 RGD protein:increased expression:nucleus,cytoplasm: 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:11049471|PMID:24184354 20160406 RGD 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:19822134|PMID:21441929|PMID:23877794|PMID:27992414|PMID:30420649 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:1600902|PMID:15659732 20070330 RGD 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:1600907|PMID:15659725 20070330 RGD 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:7240710 20130221 OMIM 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15659725|PMID:19657110|PMID:20026798|PMID:25741868|PMID:28492532|PMID:32581362 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:11049474|PMID:17957027 20160406 RGD DNA:mutation:exon: 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:11070453|PMID:25992555 20160916 RGD 3192 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia onset ISO RGD:11000 D RGD:11534990|PMID:21441929 20160916 RGD 3193 Nppa natriuretic peptide A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 3193 Nppa natriuretic peptide A gene DOID:0050685 small cell carcinoma ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18717826 3193 Nppa natriuretic peptide A gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:730878 D RGD:155646134|PMID:27249171 20221108 RGD protein:increased expression:heart (human) 3193 Nppa natriuretic peptide A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:730878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3193 Nppa natriuretic peptide A gene DOID:0080662 atrial standstill 1 ISO RGD:730878 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3193 Nppa natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:7240710 20141022 OMIM 3193 Nppa natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrial standstill 2 PMID:23275345|PMID:28492532|PMID:6225642 3193 Nppa natriuretic peptide A gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 3193 Nppa natriuretic peptide A gene DOID:1073 renal hypertension IEP D RGD:7248593|PMID:20139323 20130809 RGD protein:increased expression:plasma: 3193 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 3193 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:7248617|PMID:15241786 20130813 RGD 3193 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:7248660|PMID:12697975 20130814 RGD associated with Hypertension;protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:10763 hypertension IEP D RGD:7248593|PMID:20139323 20130809 RGD protein:increased expression:plasma: 3193 Nppa natriuretic peptide A gene DOID:10763 hypertension ISO RGD:730878 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2526952|PMID:7839143|PMID:8188982|PMID:9869009|PMID:12940879|PMID:19219041|PMID:24039778|PMID:32147540 3193 Nppa natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:11554891|PMID:26597775 20221027 RGD mRNA, protein:increased expression:heart (human) 3193 Nppa natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:2313591|PMID:12916000 20091002 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy IEP D RGD:13792650|PMID:25820375 20180919 RGD protein:decreased expression:cardiomyocyte 3193 Nppa natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:11003 D RGD:155646134|PMID:27249171 20221108 RGD protein:increased expression:heart (human) 3193 Nppa natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:11252017|PMID:24275554 20230414 RGD mRNA,protein:increased expression:heart (human) 3193 Nppa natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11986409|PMID:16762803 3193 Nppa natriuretic peptide A gene DOID:13832 patent ductus arteriosus ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1421905 3193 Nppa natriuretic peptide A gene DOID:1909 melanoma ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18004088 3193 Nppa natriuretic peptide A gene DOID:2316 brain ischemia no_association ISO RGD:730878 D RGD:1626244|PMID:11706124 20070726 RGD 3193 Nppa natriuretic peptide A gene DOID:2527 nephrosis IEP D RGD:7247315|PMID:8289999 20130705 RGD protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:2921 glomerulonephritis ISO RGD:730878 D RGD:7248663|PMID:12654066 20130814 RGD associated with Streptococcal Infections;protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:299 adenocarcinoma ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18225537 3193 Nppa natriuretic peptide A gene DOID:3021 acute kidney failure IEP D RGD:7247715|PMID:22209992 20130726 RGD mRNA:increased expression:kidney 3193 Nppa natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1825077|PMID:2948068|PMID:19298916 3193 Nppa natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:1579982|PMID:12514664 19990101 RGD DNA:snp:cds:c.2238T>C (human) 3193 Nppa natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:7247716|PMID:22170009 20130726 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human) 3193 Nppa natriuretic peptide A gene DOID:4248 coronary stenosis ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 3193 Nppa natriuretic peptide A gene DOID:5082 liver cirrhosis ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 3193 Nppa natriuretic peptide A gene DOID:5199 ureteral obstruction IDA D RGD:7247722|PMID:19223006 20130729 RGD 3193 Nppa natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:11003 D RGD:7247722|PMID:19223006 20130729 RGD protein, mRNA:increased expression:plasma, kidney: 3193 Nppa natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:730878 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 3193 Nppa natriuretic peptide A gene DOID:57 aortic valve insufficiency ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 3193 Nppa natriuretic peptide A gene DOID:5844 myocardial infarction IEP D RGD:1580000|PMID:16087130 19990101 RGD 3193 Nppa natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9527094|PMID:11743230 3193 Nppa natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:1579982|PMID:12514664 19990101 RGD DNA:snp:cds:c.2238T>C (human) 3193 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1647690|PMID:8112904|PMID:11136700|PMID:16101196 3193 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:1580139|PMID:11421854 20130621 RGD mRNA,protein:increased expression:heart,plasma 3193 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:1580140|PMID:2143809 20130621 RGD protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure severity ISO RGD:730878 D RGD:7247714|PMID:23566312 20130726 RGD protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure treatment IDA D RGD:7297049|PMID:23931972 20130910 RGD 3193 Nppa natriuretic peptide A gene DOID:630 genetic disease ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3193 Nppa natriuretic peptide A gene DOID:6432 pulmonary hypertension IDA D RGD:7247720|PMID:2136863 20130729 RGD 3193 Nppa natriuretic peptide A gene DOID:784 chronic kidney disease disease_progression ISO RGD:730878 D RGD:7247723|PMID:19052536 20130729 RGD protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:8283 peritonitis ISO RGD:730878 D RGD:7247713|PMID:23422200 20130726 RGD 3193 Nppa natriuretic peptide A gene DOID:8725 vascular dementia ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848 3193 Nppa natriuretic peptide A gene DOID:8947 diabetic retinopathy ISO RGD:730878 D RGD:2313589|PMID:15273657 20091002 RGD protein:increased expression:vitreous humor 3193 Nppa natriuretic peptide A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730878 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17460430|PMID:25741868|PMID:28492532 3193 Nppa natriuretic peptide A gene DOID:9000641 Pain ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:13679232 3193 Nppa natriuretic peptide A gene DOID:9000965 Neoplasm Metastasis ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18717826 3193 Nppa natriuretic peptide A gene DOID:9001443 Hypercapnia ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 3193 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2313592|PMID:10381153 20091002 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:blood 3193 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:730878 D RGD:7247731|PMID:10404802 20130730 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 3193 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730878 D RGD:2313590|PMID:15111511 20091002 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :2238T>C (human) 3193 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:730878 D RGD:2313593|PMID:9681733 20091002 RGD DNA:polymorphism:intron 3193 Nppa natriuretic peptide A gene DOID:9002304 Prostatic Neoplasms ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18225537 3193 Nppa natriuretic peptide A gene DOID:9002669 Hypoxia ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 3193 Nppa natriuretic peptide A gene DOID:9003919 Urination Disorders ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8318687 3193 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:11003 D RGD:11554891|PMID:26597775 20221027 RGD mRNA, protein:increased expression:heart (mouse) 3193 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:730878 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:12224825|PMID:18056528|PMID:20886221|PMID:21242511|PMID:21297083|PMID:22083722 3193 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11003 D RGD:11252017|PMID:24275554 20230414 RGD 3193 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment IDA D RGD:7297051|PMID:23905381 20130910 RGD 3193 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:11003 D RGD:155663352|PMID:23188126 20221111 RGD 3193 Nppa natriuretic peptide A gene DOID:9004283 Transplant Rejection treatment ISO RGD:730878 D RGD:7297054|PMID:23826817 20130910 RGD 3193 Nppa natriuretic peptide A gene DOID:9004464 Skin Neoplasms ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18004088 3193 Nppa natriuretic peptide A gene DOID:9004610 Acute Lung Injury ISO RGD:730878 D RGD:7247713|PMID:23422200 20130726 RGD 3193 Nppa natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1580154|PMID:16272201 20130730 RGD mRNA:increased expression:heart left ventricle 3193 Nppa natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:7297044|PMID:24013683 20130910 RGD associated with Kidney Failure, Chronic;mRNA:increased expression:heart 3193 Nppa natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9455993|PMID:10755198 3193 Nppa natriuretic peptide A gene DOID:9005172 Lung Neoplasms ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18717826 3193 Nppa natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1580773|PMID:15789000 20091002 RGD protein:decreased expression:retina 3193 Nppa natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7248602|PMID:17151304 20130812 RGD protein:increased expression:plasma, kidney, heart; 3193 Nppa natriuretic peptide A gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:730878 D RGD:7247719|PMID:19298916 20130726 RGD 3193 Nppa natriuretic peptide A gene DOID:9006024 Hypotension ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2951327|PMID:2961279 3193 Nppa natriuretic peptide A gene DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:7247720|PMID:2136863 20130729 RGD 3193 Nppa natriuretic peptide A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:730878 D RGD:7247717|PMID:20471588 20130726 RGD 3193 Nppa natriuretic peptide A gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:7297056|PMID:23497378 20130910 RGD associated with Diabetes Mellitus, Experimental 3193 Nppa natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:14696737|PMID:25452597 20190723 RGD DNA:missense:exon:rs5063(human) 3193 Nppa natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:149735577|PMID:10525492 20210729 RGD DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human) 3193 Nppa natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:1580137|PMID:15017020 20070726 RGD 3193 Nppa natriuretic peptide A gene DOID:9007102 Myocardial Ischemia ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1830552 3193 Nppa natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ISO RGD:730878 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 3193 Nppa natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11003 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 3193 Nppa natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:7240710 20130221 OMIM 3193 Nppa natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:15017020|PMID:17460430|PMID:17576681|PMID:17984371|PMID:18614783|PMID:19646991|PMID:19702001|PMID:20064500|PMID:20543198|PMID:22400494|PMID:22575314|PMID:22818067|PMID:23275345|PMID:23529183|PMID:23838598|PMID:24033266|PMID:24041948|PMID:25401746|PMID:25410959|PMID:25467552|PMID:25741868|PMID:26200358|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31034774|PMID:31983221|PMID:33268848|PMID:33552729|PMID:6225642|PMID:9536098 3193 Nppa natriuretic peptide A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11584395 3193 Nppa natriuretic peptide A gene DOID:9352 type 2 diabetes mellitus ISO RGD:11003 D RGD:2313586|PMID:19675071 20091002 RGD 3193 Nppa natriuretic peptide A gene DOID:9775 diastolic heart failure ISO RGD:730878 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 3193 Nppa natriuretic peptide A gene DOID:9970 obesity ISO RGD:730878 D RGD:7247714|PMID:23566312 20130726 RGD associated with Heart Failure; 3194 Nppb natriuretic peptide B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 3194 Nppb natriuretic peptide B gene DOID:0050700 cardiomyopathy ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14745153|PMID:16127512 3194 Nppb natriuretic peptide B gene DOID:0060224 atrial fibrillation ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15864246 3194 Nppb natriuretic peptide B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69139 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3194 Nppb natriuretic peptide B gene DOID:0080322 polycystic kidney disease treatment IDA D RGD:14701038|PMID:28416225 20190904 RGD 3194 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:30296680|PMID:32293449 20200616 RGD 3194 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:30296681|PMID:32345579 20200616 RGD associated with diabetes mellitus 3194 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:30296677|PMID:32434874 20200616 RGD 3194 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:30296679|PMID:32302954 20200616 RGD 3194 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:30309200|PMID:32427582 20200619 RGD 3194 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:32698682|PMID:32406594 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) 3194 Nppb natriuretic peptide B gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 3194 Nppb natriuretic peptide B gene DOID:1073 renal hypertension IEP D RGD:6907405|PMID:22188107 20130723 RGD protein:increased expression:serum 3194 Nppb natriuretic peptide B gene DOID:1073 renal hypertension IEP D RGD:7248593|PMID:20139323 20130809 RGD protein:increased expression:plasma: 3194 Nppb natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:69139 D RGD:7248660|PMID:12697975 20130814 RGD associated with Hypertension;protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:10763 hypertension IEP D RGD:70484|PMID:11897768 19990101 RGD 3194 Nppb natriuretic peptide B gene DOID:10763 hypertension ISO RGD:69139 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9194512|PMID:19219041|PMID:24039778|PMID:30310171|PMID:32147540 3194 Nppb natriuretic peptide B gene DOID:10763 hypertension susceptibility ISO RGD:69139 D RGD:1642191|PMID:17554401 20070907 RGD DNA:repeats 3194 Nppb natriuretic peptide B gene DOID:10763 hypertension treatment IDA D RGD:5685657|PMID:21403100 20190904 RGD 3194 Nppb natriuretic peptide B gene DOID:10825 essential hypertension ISO RGD:69139 D RGD:7246914|PMID:9350073 20130621 RGD protein:increased expression:plasma: 3194 Nppb natriuretic peptide B gene DOID:10923 sickle cell anemia ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20408845 3194 Nppb natriuretic peptide B gene DOID:10923 sickle cell anemia severity ISO RGD:69139 D RGD:5685653|PMID:21689089 20120113 RGD 3194 Nppb natriuretic peptide B gene DOID:11394 adult respiratory distress syndrome ISO RGD:69139 D RGD:7247620|PMID:23837838 20130722 RGD associated with Ventilator-Induced Lung Injury;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:114 heart disease IEP D RGD:1642294|PMID:10828832 20070910 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:heart 3194 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18004637 3194 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:5685644|PMID:22087201 20120113 RGD associated with Mucocutaneous Lymph Node Syndrome 3194 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:7247634|PMID:22038201 20130723 RGD associated with Renal Insufficiency,chronic;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:11516 hypertensive heart disease IDA D RGD:5685657|PMID:21403100 20120113 RGD 3194 Nppb natriuretic peptide B gene DOID:11981 morbid obesity ISO RGD:69139 D RGD:1642195|PMID:17273651 20070907 RGD protein:increased expression:serum 3194 Nppb natriuretic peptide B gene DOID:1287 cardiovascular system disease ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19220183 3194 Nppb natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16762803|PMID:18628775 3194 Nppb natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:2324684|PMID:18068619 20100510 RGD protein:increased expression:serum 3194 Nppb natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ameliorates ISO RGD:69139 D RGD:11252017|PMID:24275554 20230414 RGD mRNA,protein:increased expression:heart (human) 3194 Nppb natriuretic peptide B gene DOID:13378 Kawasaki disease ISO RGD:69139 D RGD:5685654|PMID:21410593 20120113 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:1682 congenital heart disease ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16014188 3194 Nppb natriuretic peptide B gene DOID:1936 atherosclerosis ISO RGD:69139 D RGD:7247628|PMID:22863432 20130723 RGD associated with Renal Insufficiency, chronic;protein:increased expression:blood: 3194 Nppb natriuretic peptide B gene DOID:1936 atherosclerosis susceptibility ISO RGD:69139 D RGD:7248594|PMID:19413180 20130809 RGD associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human) 3194 Nppb natriuretic peptide B gene DOID:2527 nephrosis IEP D RGD:7247315|PMID:8289999 20130705 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure IEP D RGD:7247715|PMID:22209992 20130726 RGD mRNA:increased expression:kidney 3194 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:7247620|PMID:23837838 20130722 RGD associated with lung diseases;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:7247622|PMID:23415693 20130722 RGD associated with Pneumonia;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:7247624|PMID:23192919 20130722 RGD associated with Myocardial Infarction;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:3393 coronary artery disease ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18022110 3194 Nppb natriuretic peptide B gene DOID:4500 hypokalemia ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 3194 Nppb natriuretic peptide B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11004 D RGD:7248605|PMID:11729234 20130812 RGD 3194 Nppb natriuretic peptide B gene DOID:5082 liver cirrhosis ISO RGD:69139 D RGD:7246914|PMID:9350073 20130621 RGD protein:increased expression:plasma: 3194 Nppb natriuretic peptide B gene DOID:5082 liver cirrhosis severity ISO RGD:69139 D RGD:7248670|PMID:23940514 20130814 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:5199 ureteral obstruction ISO RGD:69139 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 3194 Nppb natriuretic peptide B gene DOID:57 aortic valve insufficiency ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 3194 Nppb natriuretic peptide B gene DOID:576 proteinuria IMP D RGD:12910116|PMID:26063669 20170609 RGD 3194 Nppb natriuretic peptide B gene DOID:5844 myocardial infarction IEP D RGD:1642266|PMID:17256064 20070910 RGD 3194 Nppb natriuretic peptide B gene DOID:5844 myocardial infarction IMP D RGD:2324680|PMID:19858735 20100510 RGD 3194 Nppb natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:69139 D RGD:7247724|PMID:17639095 20130729 RGD 3194 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure IEP D RGD:7247316|PMID:1831369 20130705 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11136700|PMID:11279304|PMID:12628948|PMID:15732037|PMID:15860969|PMID:16101196|PMID:16333235|PMID:16360360|PMID:16762801|PMID:16777915|PMID:19650993|PMID:24535859|PMID:29959987 3194 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:1580139|PMID:11421854 19990101 RGD mRNA,protein:increased expression:heart,plasma 3194 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:1642196|PMID:17257273 20070907 RGD associated with Diabetes Mellitus;protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure severity ISO RGD:69139 D RGD:1580140|PMID:2143809 19990101 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:630 genetic disease ISO RGD:69139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3194 Nppb natriuretic peptide B gene DOID:6364 migraine ISO RGD:69139 D RGD:5685652|PMID:22165670 20120113 RGD protein:increased expression:serum 3194 Nppb natriuretic peptide B gene DOID:6432 pulmonary hypertension IEP D RGD:1642203|PMID:16936438 20070907 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20408845|PMID:21351102 3194 Nppb natriuretic peptide B gene DOID:6432 pulmonary hypertension severity ISO RGD:69139 D RGD:1642205|PMID:16893710 20070907 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:783 end stage renal disease ISO RGD:69139 D RGD:7246912|PMID:7606877 20130621 RGD protein:increased expression:plasma: 3194 Nppb natriuretic peptide B gene DOID:784 chronic kidney disease disease_progression ISO RGD:69139 D RGD:7246908|PMID:23725445 20130621 RGD 3194 Nppb natriuretic peptide B gene DOID:9000543 Death ISO RGD:69139 D RGD:1642194|PMID:17296640 20070907 RGD associated with Hypertension, Pulmonary 3194 Nppb natriuretic peptide B gene DOID:9000590 Dyspnea ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20339970 3194 Nppb natriuretic peptide B gene DOID:9000641 Pain ISO RGD:69139 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27687165 3194 Nppb natriuretic peptide B gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16014188|PMID:19650993 3194 Nppb natriuretic peptide B gene DOID:9000790 Postoperative Complications ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23019395 3194 Nppb natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19803787 3194 Nppb natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:7247620|PMID:23837838 20130722 RGD associated with lung diseases;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left IEP D RGD:7247632|PMID:22071162 20130723 RGD associated with Renal Insufficiency; protein:increased expression:blood: 3194 Nppb natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16689991 3194 Nppb natriuretic peptide B gene DOID:9002097 High Cardiac Output ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 3194 Nppb natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:11004 D RGD:7248603|PMID:16917760 20130812 RGD 3194 Nppb natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69139 D RGD:7247731|PMID:10404802 20130730 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:9002371 Cardiotoxicity ISO RGD:69139 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 3194 Nppb natriuretic peptide B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19803787 3194 Nppb natriuretic peptide B gene DOID:9003234 Hypertensive Nephropathy IMP D RGD:12910116|PMID:26063669 20201210 RGD 3194 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly IEP D RGD:1642206|PMID:16762434 20070907 RGD associated with Hypertension;mRNA:increased expression:heart 3194 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15942707|PMID:15969258|PMID:18056528|PMID:21565836 3194 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11004 D RGD:11252017|PMID:24275554 20230414 RGD 3194 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly treatment IDA D RGD:7297051|PMID:23905381 20130910 RGD 3194 Nppb natriuretic peptide B gene DOID:9004363 Eisenmenger Complex disease_progression ISO RGD:69139 D RGD:7247629|PMID:22397941 20130723 RGD protein:increased expression:blood: 3194 Nppb natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1580154|PMID:16272201 20130730 RGD mRNA:increased expression:heart left ventricle 3194 Nppb natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69139 D RGD:1642202|PMID:17118955 20070907 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy treatment IDA D RGD:7297044|PMID:24013683 20130910 RGD associated with Kidney Failure, Chronic 3194 Nppb natriuretic peptide B gene DOID:9005141 Ventricular Tachycardia ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 3194 Nppb natriuretic peptide B gene DOID:9005372 Inflammation ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19803787 3194 Nppb natriuretic peptide B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642199|PMID:17151299 20070907 RGD protein:increased expression:atrium myocardium, plasma 3194 Nppb natriuretic peptide B gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69139 D RGD:7248591|PMID:20438292 20130809 RGD associated with Heart Failure 3194 Nppb natriuretic peptide B gene DOID:9006024 Hypotension ISO RGD:69139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9194512|PMID:20339970 3194 Nppb natriuretic peptide B gene DOID:9006205 Animal Disease Models ISO RGD:69139 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 3194 Nppb natriuretic peptide B gene DOID:9006635 Hyponatremia ISO RGD:69139 D RGD:5685651|PMID:21808206 20120113 RGD associated with Brain Injuries 3194 Nppb natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ISO RGD:69139 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 3194 Nppb natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11004 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction 3194 Nppb natriuretic peptide B gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:69139 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 3194 Nppb natriuretic peptide B gene DOID:9007692 Insulin Resistance ISO RGD:69139 D RGD:1642192|PMID:17392814 20070907 RGD associated with Obesity and Hypertension;protein:decreased expression:serum 3194 Nppb natriuretic peptide B gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:5685663|PMID:21168723 20120116 RGD 3194 Nppb natriuretic peptide B gene DOID:9008830 Vasovagal Syncope ISO RGD:69139 D RGD:7247623|PMID:23373852 20130722 RGD associated with Syncope;protein:increased expression:serum: 3194 Nppb natriuretic peptide B gene DOID:9279 hyperhomocysteinemia IEP D RGD:1642265|PMID:17303690 20070910 RGD mRNA, protein:increased expression:heart, plasma 3194 Nppb natriuretic peptide B gene DOID:9351 diabetes mellitus onset ISO RGD:69139 D RGD:7246907|PMID:23733199 20130621 RGD 3194 Nppb natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2293330|PMID:18192848 20100510 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69139 D RGD:5685645|PMID:22037102 20120113 RGD protein:increased expression:serum 3194 Nppb natriuretic peptide B gene DOID:9477 pulmonary embolism disease_progression ISO RGD:69139 D RGD:7247621|PMID:23562569 20130722 RGD protein:increased expression:plasma 3194 Nppb natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:7246908|PMID:23725445 20130621 RGD associated with Renal Insufficiency;protein:increased expression:plasma: 3194 Nppb natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:7247627|PMID:23122795 20130723 RGD 3194 Nppb natriuretic peptide B gene DOID:9970 obesity IEP D RGD:7327171|PMID:24009719 20130913 RGD mRNA:decreased expression:heart 3194 Nppb natriuretic peptide B gene DOID:9970 obesity ISO RGD:69139 D RGD:5685647|PMID:21959345 20120113 RGD associated with Diabetes Mellitus, Type 2 3195 Npr1 natriuretic peptide receptor 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3195 Npr1 natriuretic peptide receptor 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3195 Npr1 natriuretic peptide receptor 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3195 Npr1 natriuretic peptide receptor 1 gene DOID:10763 hypertension IAGP D RGD:628585|PMID:12511524 19990101 RGD DNA:repeat:promoter: (rat) 3195 Npr1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:732882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 3195 Npr1 natriuretic peptide receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732882 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3195 Npr1 natriuretic peptide receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:11007 D RGD:7247722|PMID:19223006 20130729 RGD 3195 Npr1 natriuretic peptide receptor 1 gene DOID:557 kidney disease ISO RGD:732882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 3195 Npr1 natriuretic peptide receptor 1 gene DOID:5812 MHC class II deficiency ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3195 Npr1 natriuretic peptide receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:732882 D RGD:1580174|PMID:14646971 19990101 RGD DNA:missense mutation:cds:p.M341I (human) 3195 Npr1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:7247730|PMID:17264312 20130730 RGD protein:decreased expression:kidney 3195 Npr1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:737701|PMID:9405681 19990101 RGD associated with Hypertension 3195 Npr1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:732882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 3195 Npr1 natriuretic peptide receptor 1 gene DOID:630 genetic disease ISO RGD:732882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9000641 Pain ISO RGD:732882 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27687165 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9000784 Fibrosis ISO RGD:732882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11007 D RGD:737701|PMID:9405681 19990101 RGD associated with Hypertension 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:732882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9004080 Aortic Rupture ISO RGD:11007 D RGD:737701|PMID:9405681 19990101 RGD associated with Hypertension 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1580154|PMID:16272201 19990101 RGD mRNA:increased expression:heart left ventricle 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9007820 Sudden Death ISO RGD:11007 D RGD:737701|PMID:9405681 20130730 RGD associated with Hypertension 3195 Npr1 natriuretic peptide receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732882 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3196 Npr3 natriuretic peptide receptor 3 gene DOID:0080001 bone disease ISS RGD:11008 D RGD:13592920 20190110 MouseDO 3196 Npr3 natriuretic peptide receptor 3 gene DOID:10763 hypertension ISO RGD:731641 D RGD:1580175|PMID:12872042 19990101 RGD DNA:snp:promoter:g.-55C>A (human) 3196 Npr3 natriuretic peptide receptor 3 gene DOID:17 musculoskeletal system disease ISO RGD:11008 D RGD:1580774|PMID:10468599 19990101 RGD DNA:deletion, missense mutation, nonsense mutation:cds:c.195_232del, c.283C>T, c.502C>A (mouse) 3196 Npr3 natriuretic peptide receptor 3 gene DOID:630 genetic disease ISO RGD:731641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3196 Npr3 natriuretic peptide receptor 3 gene DOID:8947 diabetic retinopathy IEP D RGD:1580773|PMID:15789000 19990101 RGD mRNA:decreased expression:retina (rat) 3196 Npr3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:7240710 20211020 OMIM 3196 Npr3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Boudin-Mortier syndrome PMID:24559625|PMID:25741868|PMID:30032985 3196 Npr3 natriuretic peptide receptor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 3196 Npr3 natriuretic peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731641 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3196 Npr3 natriuretic peptide receptor 3 gene DOID:9004657 Weight Gain ISO RGD:731641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 3196 Npr3 natriuretic peptide receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1580149|PMID:15337698 19990101 RGD 3197 Npy neuropeptide Y gene DOID:0050830 peripheral artery disease ISO RGD:730830 D RGD:10448273|PMID:21468772 20151204 RGD 3197 Npy neuropeptide Y gene DOID:0060001 withdrawal disorder ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16952158 3197 Npy neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:10432246|PMID:8592643 20151203 RGD protein:decreased expression:plasma 3197 Npy neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 3197 Npy neuropeptide Y gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10431479|PMID:22266216 20151203 RGD 3197 Npy neuropeptide Y gene DOID:10763 hypertension IEP D RGD:10448968|PMID:18835922 20151209 RGD 3197 Npy neuropeptide Y gene DOID:10763 hypertension IMP D RGD:1357410|PMID:15699473 19990101 RGD 3197 Npy neuropeptide Y gene DOID:10763 hypertension ISO RGD:730830 D RGD:1580177|PMID:11689216 19990101 RGD DNA:missense mutation:cds:p.L7P (human) 3197 Npy neuropeptide Y gene DOID:11832 visual epilepsy IEP D RGD:10448927|PMID:21915341 20151208 RGD protein:decreased expression:hippocampus 3197 Npy neuropeptide Y gene DOID:11832 visual epilepsy treatment ISO RGD:730830 D RGD:10448944|PMID:19038255 20151208 RGD 3197 Npy neuropeptide Y gene DOID:12858 Huntington's disease IEP D RGD:10433553|PMID:1710657 20151203 RGD 3197 Npy neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:11016 D RGD:10433112|PMID:23697793 20151203 RGD mRNA:decreased expression:hypothalamus 3197 Npy neuropeptide Y gene DOID:12858 Huntington's disease no_association ISO RGD:730830 D RGD:10431606|PMID:24121255 20151203 RGD DNA:SNP: :rs16147 (human) 3197 Npy neuropeptide Y gene DOID:12858 Huntington's disease onset ISO RGD:730830 D RGD:10431606|PMID:24121255 20151203 RGD DNA:SNP: :rs3037354 (human) 3197 Npy neuropeptide Y gene DOID:1287 cardiovascular system disease ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 3197 Npy neuropeptide Y gene DOID:1307 dementia ISO RGD:730830 D RGD:10433462|PMID:2903567 20151203 RGD associated with Parkinson Disease;protein:decreased expression:cerebral cortex 3197 Npy neuropeptide Y gene DOID:1574 alcohol use disorder IAGP D RGD:1357412|PMID:15749341 19990101 RGD DNA:deletion:intron:g.4666_4674del (rat) 3197 Npy neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:10430830|PMID:12215082 20151203 RGD DNA:missense mutation: :p.L7P (human) 3197 Npy neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17572454 3197 Npy neuropeptide Y gene DOID:1596 depressive disorder IEP D RGD:10448940|PMID:22406386 20151208 RGD mRNA:decreased expression:hippocampus, prefrontal cortex 3197 Npy neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9729278|PMID:17572454 3197 Npy neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:1358535|PMID:14757324 19990101 RGD DNA:snp, missense mutation:promoter, cds:g.-399T>C, p.L7P (human) 3197 Npy neuropeptide Y gene DOID:1596 depressive disorder treatment IDA D RGD:10448937|PMID:19623606 20151208 RGD 3197 Npy neuropeptide Y gene DOID:1824 status epilepticus IEP D RGD:10448969|PMID:19270346 20151209 RGD 3197 Npy neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment IDA D RGD:10448964|PMID:24039965 20151209 RGD 3197 Npy neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:730830 D RGD:10448963|PMID:17331209 20151209 RGD 3197 Npy neuropeptide Y gene DOID:1826 epilepsy ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8868293|PMID:20064661 3197 Npy neuropeptide Y gene DOID:1936 atherosclerosis severity ISO RGD:11016 D RGD:10448273|PMID:21468772 20151204 RGD 3197 Npy neuropeptide Y gene DOID:2030 anxiety disorder ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11440811 3197 Npy neuropeptide Y gene DOID:2030 anxiety disorder susceptibility ISO RGD:730830 D RGD:6480264|PMID:22328461 20120320 RGD DNA:SNPs, haplotypes 3197 Npy neuropeptide Y gene DOID:2349 arteriosclerosis ISO RGD:730830 D RGD:1580177|PMID:11689216 19990101 RGD DNA:missense mutation:cds:p.L7P (human) 3197 Npy neuropeptide Y gene DOID:2841 asthma ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 3197 Npy neuropeptide Y gene DOID:303 substance-related disorder ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 3197 Npy neuropeptide Y gene DOID:3328 temporal lobe epilepsy ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15716408 3197 Npy neuropeptide Y gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:730830 D RGD:10434563|PMID:18477594 20151203 RGD 3197 Npy neuropeptide Y gene DOID:3526 cerebral infarction IEP D RGD:10448931|PMID:17123484 20151208 RGD protein:increased expression:cerebral cortex 3197 Npy neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11821007 3197 Npy neuropeptide Y gene DOID:4483 rhinitis ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12746121 3197 Npy neuropeptide Y gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730830 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3197 Npy neuropeptide Y gene DOID:571 median neuropathy IEP D RGD:10448955|PMID:19456245 20151209 RGD 3197 Npy neuropeptide Y gene DOID:574 peripheral nervous system disease ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 3197 Npy neuropeptide Y gene DOID:6000 congestive heart failure IEP D RGD:7175103|PMID:17804485 20121127 RGD 3197 Npy neuropeptide Y gene DOID:630 genetic disease ISO RGD:730830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3197 Npy neuropeptide Y gene DOID:9000040 Hypertrophy ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 3197 Npy neuropeptide Y gene DOID:9000099 Experimental Colitis treatment IMP D RGD:10448943|PMID:20533056 20151208 RGD 3197 Npy neuropeptide Y gene DOID:9000503 Nasal Obstruction ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9288221 3197 Npy neuropeptide Y gene DOID:9000808 Hypercholesterolemia ISO RGD:730830 D RGD:1580177|PMID:11689216 20150211 RGD associated with Obesity;DNA:missense mutation:cds:p.L7P (human) 3197 Npy neuropeptide Y gene DOID:9000998 Brain Injuries IEP D RGD:10448961|PMID:23570732 20151209 RGD protein:increased expression:adrenal medulla 3197 Npy neuropeptide Y gene DOID:9001109 Anorexia IEP D RGD:10448965|PMID:17234300 20151209 RGD associated with Neoplasms 3197 Npy neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16084549|PMID:16101753|PMID:25825358 3197 Npy neuropeptide Y gene DOID:9001480 Muscle Rigidity ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10675796 3197 Npy neuropeptide Y gene DOID:9001981 Weight Loss ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25825358 3197 Npy neuropeptide Y gene DOID:9002211 Hyperalgesia treatment IEP D RGD:10448929|PMID:19556004 20151208 RGD associated with Sciatic Neuropathy 3197 Npy neuropeptide Y gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:730830 D RGD:11554173 20210707 CTD CTD Direct Evidence: therapeutic PMID:32956829 3197 Npy neuropeptide Y gene DOID:9002362 Hyperkinesis ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 3197 Npy neuropeptide Y gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:1580182|PMID:15068713 19990101 RGD protein:increased expression:plasma (rat) 3197 Npy neuropeptide Y gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:730830 D RGD:10431910|PMID:8815163 20151203 RGD protein:increased expression:cerebrospinal fluid 3197 Npy neuropeptide Y gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730830 D RGD:7175091|PMID:20543711 20121127 RGD in dialysis patients with a NPY receptor Y2 mutation 3197 Npy neuropeptide Y gene DOID:9004663 Intestinal Ischemia IEP D RGD:10448970|PMID:23622727 20151209 RGD associated with Brain Injuries;mRNA, protein:increased expression:jejunum, plasma 3197 Npy neuropeptide Y gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 3197 Npy neuropeptide Y gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10448960|PMID:21042571 20151209 RGD protein:increased expression:paraventricular nucleus of hypothalamus 3197 Npy neuropeptide Y gene DOID:9005930 Endotoxemia treatment IDA D RGD:1580787|PMID:15342191 20150324 RGD 3197 Npy neuropeptide Y gene DOID:9006709 Primary Graft Dysfunction IEP D RGD:10448956|PMID:18981110 20151209 RGD mRNA, protein:decreased expression:blood, mononuclear cell 3197 Npy neuropeptide Y gene DOID:9007651 Chronic Bronchitis ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 3197 Npy neuropeptide Y gene DOID:9007956 Febrile Seizures IEP D RGD:1580179|PMID:15800380 19990101 RGD mRNA:increased expression:dentate gyrus (rat) 3197 Npy neuropeptide Y gene DOID:9008023 Memory Disorders ISO RGD:730830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2611661 3197 Npy neuropeptide Y gene DOID:9352 type 2 diabetes mellitus ISO RGD:730830 D RGD:1580183|PMID:15926114 19990101 RGD DNA:missense mutation:cds:p.L7P (human) 3197 Npy neuropeptide Y gene DOID:9970 obesity IEP D RGD:10448938|PMID:17447163 20151208 RGD mRNA, protein:increased expression:hypothalamus 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:0050830 peripheral artery disease ISO RGD:1347163 D RGD:10448273|PMID:21468772 20151204 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:0080074 neural tube defect ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:10763 hypertension IMP D RGD:1357410|PMID:15699473 20070911 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:11832 visual epilepsy IEP D RGD:1642320|PMID:10521595 20070911 RGD mRNA:decreased expression:brain 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder IMP D RGD:1642308|PMID:17265460 20070911 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9729278 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder treatment IDA D RGD:10448284|PMID:21803058 20151207 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder treatment IDA D RGD:10448937|PMID:19623606 20151208 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:1825 childhood absence epilepsy treatment IDA D RGD:10448963|PMID:17331209 20151209 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:1936 atherosclerosis ISO RGD:737212 D RGD:10448273|PMID:21468772 20151204 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11440811 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder treatment IDA D RGD:10448284|PMID:21803058 20151207 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1347163 D RGD:1642609|PMID:15337376 20071003 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:630 genetic disease ISO RGD:1347163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:670 amphetamine abuse ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:8646 substance-induced psychosis ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9001109 Anorexia IEP D RGD:10448965|PMID:17234300 20151209 RGD associated with Neoplasms;mRNA, protein:decreased expression:hypothalamus 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9002498 Wallerian Degeneration IEP D RGD:1642322|PMID:10320723 20070912 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10448967|PMID:18201831 20151209 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9007096 Stroke IMP D RGD:1642319|PMID:10891620 20070911 RGD 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1642307|PMID:17562528 20070911 RGD mRNA:decreased expression:heart left ventricle 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9007993 Dehydration IEP D RGD:1642311|PMID:16728491 20070911 RGD protein:increased expression:hypothalamus 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9008251 Toothache ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18809749 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity IEP D RGD:10448938|PMID:17447163 20151208 RGD mRNA:increased expression:hypothalamus 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:1347163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 3198 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity susceptibility ISO RGD:737212 D RGD:1642306|PMID:9861026 20070911 RGD associated with Hyperinsulinemia 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:0050830 peripheral artery disease ISO RGD:731586 D RGD:10448273|PMID:21468772 20151204 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:11832 visual epilepsy IMP D RGD:1625496|PMID:9212103 20070611 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:1825 childhood absence epilepsy treatment IDA D RGD:10448963|PMID:17331209 20151209 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:1936 atherosclerosis ISO RGD:11017 D RGD:10448273|PMID:21468772 20151204 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:2018 hyperinsulinism IDA D RGD:1625494|PMID:15187000 20070611 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:3146 lipid metabolism disorder susceptibility ISO RGD:731586 D RGD:1625492|PMID:17426313 20070611 RGD DNA:SNPs: :many 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:4247 coronary restenosis IEP D RGD:1625501|PMID:12689918 20070611 RGD mRNA, protein:increased expression:carotid artery 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:5394 prolactinoma IEP D RGD:1625506|PMID:11026575 20070611 RGD protein:increased expression:pars anterior 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:630 genetic disease ISO RGD:731586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:9001039 Leukocytosis IDA D RGD:729324|PMID:12417430 20070611 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:9005372 Inflammation IDA D RGD:1625503|PMID:12161018 20070611 RGD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity IEP D RGD:10448938|PMID:17447163 20151208 RGD mRNA:increased expression:hypothalamus 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:731586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10849579 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:731586 D RGD:1331525|PMID:15118671 19990101 GAD 3199 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity susceptibility ISO RGD:731586 D RGD:1625493|PMID:10849579 20070611 RGD DNA:polymorphisms 3200 Nr2c1 nuclear receptor subfamily 2, group C, member 1 gene DOID:289 endometriosis ISO RGD:1344559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 3200 Nr2c1 nuclear receptor subfamily 2, group C, member 1 gene DOID:630 genetic disease ISO RGD:1344559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3200 Nr2c1 nuclear receptor subfamily 2, group C, member 1 gene DOID:9006836 Contracture ISO RGD:1344559 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 3201 Nr2c2 nuclear receptor subfamily 2, group C, member 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1353162 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 3201 Nr2c2 nuclear receptor subfamily 2, group C, member 2 gene DOID:289 endometriosis ISO RGD:1353162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 3201 Nr2c2 nuclear receptor subfamily 2, group C, member 2 gene DOID:630 genetic disease ISO RGD:1353162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3201 Nr2c2 nuclear receptor subfamily 2, group C, member 2 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:735810 D RGD:7775017|PMID:21221781 20131230 RGD 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:732028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12496759|PMID:15079038|PMID:15184637|PMID:19429166|PMID:23066323|PMID:24126627|PMID:25741868|PMID:28492532 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:0080855 Parkinsonism treatment IEP D RGD:124713575|PMID:31408200 20210323 RGD 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:12849 autistic disorder ISO RGD:732028 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Autism 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:14330 Parkinson's disease ISO RGD:732028 D RGD:1358553|PMID:11914402 19990101 RGD DNA:insertion:intron:g.7048_7049insG (human) 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:14330 Parkinson's disease ISO RGD:732028 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:14330 Parkinson's disease ISS RGD:736400 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:1826 epilepsy IEP D RGD:729299|PMID:9221923 20210323 RGD mRNA:increased expression:dentate gyrus 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:1826 epilepsy ISO RGD:732028 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Epilepsy 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:37 skin disease ISO RGD:732028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:5419 schizophrenia ISS RGD:736400 D RGD:13592920 20180518 MouseDO OMIM:181500 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:630 genetic disease ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32366965 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32366965 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:736400 D RGD:11057198|PMID:25855987 20210323 RGD 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:7240710 20221214 OMIM 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism PMID:25741868|PMID:29770430|PMID:31428396|PMID:31922365|PMID:32366965|PMID:33585677 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9006359 Vitamin D Deficiency IEP D RGD:124713570|PMID:28365874 20210323 RGD 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732028 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9008 psoriatic arthritis ISO RGD:732028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732028 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16293616 3202 Nr4a2 nuclear receptor subfamily 4, group A, member 2 gene DOID:9008582 Developmental Disease ISO RGD:732028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19775298|PMID:26457647 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10598665|PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:11018 D RGD:11535055|PMID:21586752 20160920 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0050902 medulloblastoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:22962325|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23614898|PMID:24033266|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:735648 D RGD:11535060|PMID:23708912 20160920 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17671181|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22499344|PMID:22855653|PMID:23325582|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25741868|PMID:26467218|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:7240710 20130221 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 6 PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17671181|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22761467|PMID:2278970|PMID:22855653|PMID:22962325|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:2407301|PMID:24284627|PMID:24370118|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:2989702|PMID:30417923|PMID:3102434|PMID:31219622|PMID:3122217|PMID:32888943|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:11018 D RGD:11535055|PMID:21586752 20160920 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0080188 chronic myelomonocytic leukemia onset ISO RGD:11018 D RGD:11535058|PMID:26082490 20160920 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:3122217|PMID:8120410|PMID:9536098 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:29752777|PMID:31219622|PMID:3122217|PMID:8120410|PMID:9536098 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:7240710 20140903 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:7240710 20160113 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28098151|PMID:28492532|PMID:28594414|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:7240710 20141015 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:7240710 20150107 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer disease_progression ISO RGD:735648 D RGD:2314837|PMID:18334737 20091130 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1240 leukemia onset ISO RGD:11018 D RGD:11535059|PMID:27109513 20160920 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:735648 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:16291983|PMID:18390968|PMID:19657110|PMID:20130576|PMID:20179705|PMID:23414587|PMID:25157968|PMID:26619011|PMID:2674680|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1520 colon carcinoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:16291983|PMID:18390968|PMID:18633438|PMID:20130576|PMID:20179705|PMID:22962325|PMID:23414587|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3102434|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:735648 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:22535842|PMID:22842228|PMID:23432625|PMID:25043973|PMID:26214590|PMID:29574239 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:735648 D RGD:151660349|PMID:25393105 20220304 RGD associated with Neoplasm Metastasis; DNA:mutation:multiple (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24918823|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:1984 rectal benign neoplasm ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3102434 3205 Nras NRAS proto-oncogene, GTPase gene DOID:2234 focal epilepsy ISO RGD:735648 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:29493581 3205 Nras NRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:735648 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 3205 Nras NRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:735648 D RGD:2314836|PMID:19303097 20091130 RGD mRNA:increased expression:urinary bladder 3205 Nras NRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28780248|PMID:2989702|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:735648 D RGD:13702875|PMID:15517309 20180720 RGD DNA:mutation:cds:c.35G>A, p.G12D(human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:735648 D RGD:13702876|PMID:11351043 20180720 RGD DNA:amplication:: 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19966803 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3512 neurofibrosarcoma ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16239399 3205 Nras NRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:3948 adrenocortical carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:4362 cervical cancer ISO RGD:735648 D RGD:2314838|PMID:14984964 20091130 RGD mRNA:increased expression:uterine cervix 3205 Nras NRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3205 Nras NRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17517660 3205 Nras NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735648 D RGD:14696775|PMID:21993994 20190724 RGD human gene in mouse model 3205 Nras NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735648 D RGD:14696793|PMID:30685691 20190725 RGD mRNA, protein:increased expression:liver (mouse, human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:735648 D RGD:14975106|PMID:3018923 20190926 RGD mRNA:increased expression:liver (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:707 B-cell lymphoma ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14633661 3205 Nras NRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 3205 Nras NRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10821536|PMID:12460918|PMID:15899789|PMID:16273091|PMID:16291983|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22718121|PMID:22761467|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24148783|PMID:24671188|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:735648 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25157968 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:735648 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735648 D RGD:14975105|PMID:16286660 20190926 RGD human gene in mouse model 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9002457 Experimental Arthritis IEP D RGD:2300006|PMID:18706093 20090227 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:735648 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9004441 Experimental Leukemia induced IAGP D RGD:11535063|PMID:9142215 20160920 RGD DNA:transversion mutation, loss of heterozygosity:cds: 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12460918|PMID:16291983|PMID:18390968|PMID:18948947|PMID:19657110|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:21576590|PMID:22761467|PMID:23076151|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24370118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28492532|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:7240710 20141015 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma IAGP D RGD:1598680|PMID:11295286 20061212 RGD DNA:transversion:exon p.Q61L (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12727991 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:7240710 20130221 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis ISO RGD:735648 D RGD:14696774|PMID:26799184 20190724 RGD human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:14696791|PMID:28787433 20190725 RGD associated with melanoma;DNA:mutations: exons (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:14696792|PMID:28011498 20190725 RGD associated with colorectal cancer;DNA:mutations:exons (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms disease_progression IEP D RGD:2303822|PMID:17708355 20090227 RGD associated with Diabetes Mellitus, Experimental 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735648 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:11060151|PMID:21283084 20160419 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:11018 D RGD:11070616|PMID:18952898 20160920 RGD 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735648 D RGD:11535045|PMID:25204082 20160920 RGD DNA:missense mutation:cds: 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:7240710 20200226 OMIM 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:17671181|PMID:22220252|PMID:23325582|PMID:23708912|PMID:24806883|PMID:25741868|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9446 cholangitis ISO RGD:735648 D RGD:14975104|PMID:30690835 20190926 RGD mRNA:increased expression:cd4-positive helper T cells (human) 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma treatment ISO RGD:735648 D RGD:11535049|PMID:24335104 20160920 RGD DNA:mutation: : 3205 Nras NRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735648 D RGD:11535045|PMID:25204082 20160920 RGD DNA:missense mutation:cds: 3208 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:5723 optic atrophy ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:32445240|PMID:9536098 3208 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3208 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:9003458 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ISO RGD:733084 D RGD:7240710 20190315 OMIM 3208 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:9003458 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:32445240|PMID:33401012|PMID:9536098 3209 Nrcam neuronal cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISS RGD:735378 D RGD:13592920 20190516 MouseDO 3209 Nrcam neuronal cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:731343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17106428|PMID:18664314 3209 Nrcam neuronal cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:731343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123759 3209 Nrcam neuronal cell adhesion molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731343 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3209 Nrcam neuronal cell adhesion molecule gene DOID:630 genetic disease ISO RGD:731343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35108495 3209 Nrcam neuronal cell adhesion molecule gene DOID:9002189 High Myopia ISO RGD:731343 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 3209 Nrcam neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:7240710 20220706 OMIM 3209 Nrcam neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NRCAM-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities PMID:25741868|PMID:35108495 3209 Nrcam neuronal cell adhesion molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:731343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 3209 Nrcam neuronal cell adhesion molecule gene DOID:9008939 Breast Neoplasms ISO RGD:731343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 3210 Nrdc nardilysin convertase gene DOID:630 genetic disease ISO RGD:731928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3211 Musk muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:7240710 20170329 OMIM 3211 Musk muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 PMID:15184594|PMID:15496425|PMID:18414213|PMID:19949040|PMID:20371544|PMID:23326516|PMID:24122059|PMID:25262156|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:29663639|PMID:30429133|PMID:30719842|PMID:32253145 3211 Musk muscle associated receptor tyrosine kinase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731781 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:28492532 3211 Musk muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:7240710 20150812 OMIM 3211 Musk muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:15184594|PMID:15496425|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20371544|PMID:23326516|PMID:24122059|PMID:24183479|PMID:25262156|PMID:25537362|PMID:25612909|PMID:25640679|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:28518170|PMID:29663639|PMID:30429133|PMID:30719842|PMID:31750350|PMID:31974414|PMID:32253145|PMID:32732226|PMID:8653786|PMID:9536098 3211 Musk muscle associated receptor tyrosine kinase gene DOID:11162 respiratory failure ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25537362|PMID:25741868|PMID:28492532|PMID:31974414 3211 Musk muscle associated receptor tyrosine kinase gene DOID:3635 congenital myasthenic syndrome ISO RGD:731781 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive PMID:28492532 3211 Musk muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis ISO RGD:731781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22981737|PMID:27119269 3211 Musk muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis severity ISO RGD:731781 D RGD:38599165|PMID:26025053 20200911 RGD protein:increased expression:serum (human) 3211 Musk muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis treatment ISO RGD:731781 D RGD:38599166|PMID:22218276 20200911 RGD 3211 Musk muscle associated receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 3211 Musk muscle associated receptor tyrosine kinase gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IDA D RGD:2317084|PMID:17081697 20100312 RGD 3211 Musk muscle associated receptor tyrosine kinase gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:731781 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3212 Ntf4 neurotrophin 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 3212 Ntf4 neurotrophin 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:733149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 3212 Ntf4 neurotrophin 4 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:733149 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:19765683|PMID:20215012|PMID:20463313|PMID:25741868|PMID:27535533 3212 Ntf4 neurotrophin 4 gene DOID:1059 intellectual disability ISO RGD:733149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 3212 Ntf4 neurotrophin 4 gene DOID:12849 autistic disorder ISO RGD:733149 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11357950|PMID:16289943 3212 Ntf4 neurotrophin 4 gene DOID:2841 asthma ISO RGD:1553502 D RGD:4891068|PMID:17497413 20110104 RGD protein:increased expression:lung, serum 3212 Ntf4 neurotrophin 4 gene DOID:630 genetic disease ISO RGD:733149 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3212 Ntf4 neurotrophin 4 gene DOID:8927 learning disability ISO RGD:1553502 D RGD:737722|PMID:10869436 19990101 RGD 3212 Ntf4 neurotrophin 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1553502 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8921280 3212 Ntf4 neurotrophin 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733149 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8921280 3212 Ntf4 neurotrophin 4 gene DOID:9007746 Glaucoma 1, Open Angle, O ISO RGD:733149 D RGD:7240710 20130221 OMIM 3212 Ntf4 neurotrophin 4 gene DOID:9007746 Glaucoma 1, Open Angle, O ISO RGD:733149 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, O PMID:19765683|PMID:20215012|PMID:20463313|PMID:25741868|PMID:27535533 3212 Ntf4 neurotrophin 4 gene DOID:9008023 Memory Disorders ISO RGD:1553502 D RGD:737722|PMID:10869436 19990101 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731305 D RGD:5684550|PMID:21330466 20111222 RGD mRNA:increased expression:lung 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060180 colitis IEP D RGD:5684542|PMID:20638179 20120104 RGD mRNA, protein:increased expression:dorsal root ganglion 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:7240710 20190315 OMIM 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 PMID:25741868|PMID:28492532|PMID:29100083 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:11023 D RGD:5684901|PMID:20553714 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:11023 D RGD:5684548|PMID:21900882 20111222 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731305 D RGD:5508228|PMID:18780967 20111011 RGD sporadic AD; DNA:SNP:intron:rs2289656 (human) 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10059402|PMID:24877042 20150814 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1094 attention deficit hyperactivity disorder treatment IEP D RGD:10059388|PMID:25061595 20150814 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:11981 morbid obesity onset ISO RGD:731305 D RGD:1626135|PMID:16702999 20070713 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:12217 Lewy body dementia ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20662941 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:5684891|PMID:20662941 20120104 RGD DNA:SNPs: :multiple (human) 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:5684778|PMID:21223646 20120103 RGD mRNA:decreased expression:depression 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:5684911|PMID:19844206 20120104 RGD DNA:SNPs: :rs2289657, rs56142442 (human) 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder severity ISO RGD:731305 D RGD:5684909|PMID:20124106 20120104 RGD DNA:SNPs: : (human) 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder IEP D RGD:5684923|PMID:22097208 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:11023 D RGD:5684782|PMID:20956301 20120103 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma IDA D RGD:5684908|PMID:20357199 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma IEP D RGD:8655608|PMID:10711692 20140520 RGD protein:increased expression:eye: 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1824 status epilepticus ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1826 epilepsy ISO RGD:11023 D RGD:5684907|PMID:20445044 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1826 epilepsy ISO RGD:731305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:2055 post-traumatic stress disorder IEP D RGD:5684783|PMID:20863519 20120103 RGD protein:increased expression:hippocampus 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19018715 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:5684549|PMID:21612826 20111222 RGD protein:decreased expression:cerebellum 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:increased expression:forebrain, postsynaptic density 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11023 D RGD:5684550|PMID:21330466 20111222 RGD mRNA, protein:increased expression:lung 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:5419 schizophrenia ISO RGD:731305 D RGD:5684778|PMID:21223646 20120103 RGD mRNA:decreased expression:depression 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100083 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:769 neuroblastoma ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16051641 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:769 neuroblastoma ISO RGD:731305 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:5684547|PMID:22027236 20111222 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5684898|PMID:20597685 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000106 Oculomotor Nerve Injuries IEP D RGD:5684341|PMID:21456016 20120104 RGD mRNA:increased expression:motor neuron 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:5684913|PMID:21603940 20120104 RGD mRNA:increased expression:brain 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000438 Subarachnoid Hemorrhage IDA D RGD:5684779|PMID:21193742 20120103 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002165 Diabetic Nephropathies IMP D RGD:4891134|PMID:20557422 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia IEP D RGD:8657122|PMID:21958434 20140603 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:11023 D RGD:8657091|PMID:12470870 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002362 Hyperkinesis ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002916 Hyperphagia ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002953 Escherichia Coli Infections onset IEP D RGD:5684914|PMID:21411668 20120104 RGD protein:decreased expression:hippocampus 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005372 Inflammation IEP D RGD:8657122|PMID:21958434 20140603 RGD protein:increased expression:hindpaw: 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008091 Optic Nerve Injuries IDA D RGD:5684908|PMID:20357199 20120104 RGD 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008520 Chronic Pain IEP D RGD:5684922|PMID:11360665 20120104 RGD protein:increased expression:frontal cortex, neuron 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:7240710 20141015 OMIM 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay PMID:15494731|PMID:25741868|PMID:27884935|PMID:28492532|PMID:29100083 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9470 bacterial meningitis ISO RGD:11023 D RGD:5684920|PMID:16141791 20120104 RGD mRNA, protein:increased expression:hippocampus 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:731305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 3213 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:731305 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Obesity 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1354062 D RGD:150519921|PMID:23027130 20211019 RGD 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354062 D RGD:150519920|PMID:30452981 20211019 RGD 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1354062 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:289 endometriosis ISO RGD:1354062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:1354062 D RGD:150520014|PMID:20802235 20211020 RGD mRNA,protein:increased expression:breast: 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3070 high grade glioma ISO RGD:1354062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354062 D RGD:2325663|PMID:10209957 20100604 RGD protein:increased expression:pancreas 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354062 D RGD:2325660|PMID:11295066 20100604 RGD 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354062 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1354062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2308892|PMID:18585435 20100601 RGD mRNA:decreased expression:spinal cord 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000403 Animal Mammary Neoplasms ameliorates ISO RGD:737043 D RGD:150520014|PMID:20802235 20211020 RGD 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325654|PMID:9541170 20100604 RGD mRNA:decreased expression:dorsal root ganglion 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9009121 lung metastasis ameliorates ISO RGD:737043 D RGD:150520014|PMID:20802235 20211020 RGD associated with mammary carcinoma 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1354062 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:29119387 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1354062 D RGD:150520010|PMID:28105243 20211020 RGD DNA:hypermethylation:promoter 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1354062 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3214 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1354062 D RGD:150520009|PMID:33593392 20211020 RGD 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:731477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:33094510 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:630 genetic disease ISO RGD:731477 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:25741868|PMID:28492532|PMID:33094510 3215 Nudc nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 3216 Nup153 nucleoporin 153 gene DOID:630 genetic disease ISO RGD:731840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3216 Nup153 nucleoporin 153 gene DOID:9007098 Pulmonary Atresia ISO RGD:731840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 3218 Nxph1 neurexophilin 1 gene DOID:630 genetic disease ISO RGD:737134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3219 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:733111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 3219 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733111 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3222 Ocm oncomodulin gene DOID:0070271 Lynch syndrome 1 ISO RGD:737307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 3222 Ocm oncomodulin gene DOID:3883 Lynch syndrome ISO RGD:737307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 3222 Ocm oncomodulin gene DOID:630 genetic disease ISO RGD:737307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:732626 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:13619 extrahepatic cholestasis IEP D RGD:7243879|PMID:20814153 20130520 RGD protein:decreased expression:kidney 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:1852 intrahepatic cholestasis IEP D RGD:7243885|PMID:19002567 20130520 RGD mRNA, protein:decreased expression:liver 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:1920 hyperuricemia treatment ISO RGD:737278 D RGD:7243180|PMID:21909718 20130510 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:1920 hyperuricemia treatment ISO RGD:737278 D RGD:7244192|PMID:21154198 20130528 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:2841 asthma IEP D RGD:5686690|PMID:17328924 20150416 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:3021 acute kidney failure treatment IDA D RGD:7243179|PMID:22414646 20130510 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:630 genetic disease ISO RGD:732626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732626 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:737278 D RGD:7243178|PMID:23228442 20130510 RGD mRNA:decreased expression:kidney 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2317435|PMID:14718608 20100405 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:9005930 Endotoxemia treatment IDA D RGD:7243881|PMID:18313662 20130520 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7243877|PMID:21835768 20130520 RGD 3224 Slc22a1 solute carrier family 22 member 1 gene DOID:9970 obesity ISO RGD:732626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20956498 3227 Odc1 ornithine decarboxylase 1 gene DOID:0060689 atrichia with papular lesions ISS RGD:1551973 D RGD:13592920 20180518 MouseDO OMIM:209500 3227 Odc1 ornithine decarboxylase 1 gene DOID:2615 papilloma ISO RGD:731324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17928125 3227 Odc1 ornithine decarboxylase 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 3227 Odc1 ornithine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:731324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3227 Odc1 ornithine decarboxylase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 3227 Odc1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:7240710 20201111 OMIM 3227 Odc1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with alopecia and brain abnormalities PMID:25741868|PMID:30239107 3227 Odc1 ornithine decarboxylase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:731324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2591024|PMID:7653998 3227 Odc1 ornithine decarboxylase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21930798 3228 Odf1 outer dense fiber of sperm tails 1 gene DOID:0111590 Cohen syndrome ISO RGD:733828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 3228 Odf1 outer dense fiber of sperm tails 1 gene DOID:630 genetic disease ISO RGD:733828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3229 Odf2 outer dense fiber of sperm tails 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 3229 Odf2 outer dense fiber of sperm tails 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 3229 Odf2 outer dense fiber of sperm tails 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 3229 Odf2 outer dense fiber of sperm tails 2 gene DOID:630 genetic disease ISO RGD:731998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3231 Omp olfactory marker protein gene DOID:1059 intellectual disability ISO RGD:734264 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3231 Omp olfactory marker protein gene DOID:630 genetic disease ISO RGD:734264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3233 Oprd1 opioid receptor, delta 1 gene DOID:0060001 withdrawal disorder ISO RGD:731961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 3233 Oprd1 opioid receptor, delta 1 gene DOID:1826 epilepsy ISO RGD:731961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 3233 Oprd1 opioid receptor, delta 1 gene DOID:303 substance-related disorder ISO RGD:731961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17622222|PMID:20098672 3233 Oprd1 opioid receptor, delta 1 gene DOID:5844 myocardial infarction IDA D RGD:2316587|PMID:12798419 20100217 RGD 3233 Oprd1 opioid receptor, delta 1 gene DOID:5844 myocardial infarction IMP D RGD:9831425|PMID:15076225 20150306 RGD 3233 Oprd1 opioid receptor, delta 1 gene DOID:630 genetic disease ISO RGD:731961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3233 Oprd1 opioid receptor, delta 1 gene DOID:9000064 Cardiac Arrhythmias IDA D RGD:2316592|PMID:10900218 20100217 RGD 3233 Oprd1 opioid receptor, delta 1 gene DOID:9000641 Pain IDA D RGD:2316589|PMID:12710986 20100217 RGD 3233 Oprd1 opioid receptor, delta 1 gene DOID:9002916 Hyperphagia IMP D RGD:9831410|PMID:9808678 20150305 RGD 3233 Oprd1 opioid receptor, delta 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:731961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 3233 Oprd1 opioid receptor, delta 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2316590|PMID:12136724 20100217 RGD 3234 Oprm1 opioid receptor, mu 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1551432 D RGD:13592920 20190516 MouseDO 3234 Oprm1 opioid receptor, mu 1 gene DOID:11162 respiratory failure ISO RGD:737513 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 3234 Oprm1 opioid receptor, mu 1 gene DOID:13413 hepatic encephalopathy ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11991257 3234 Oprm1 opioid receptor, mu 1 gene DOID:1574 alcohol use disorder ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12815747 3234 Oprm1 opioid receptor, mu 1 gene DOID:1826 epilepsy ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 3234 Oprm1 opioid receptor, mu 1 gene DOID:1883 hepatitis C ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12937158|PMID:17299060 3234 Oprm1 opioid receptor, mu 1 gene DOID:2316 brain ischemia IEP D RGD:2316630|PMID:16176345 20100218 RGD 3234 Oprm1 opioid receptor, mu 1 gene DOID:2559 opiate dependence ISO RGD:737513 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Opioid dependence, susceptibility to, 1 PMID:11134674|PMID:11773858|PMID:11773859|PMID:15037869|PMID:15086512|PMID:16046395|PMID:16387451|PMID:16682632|PMID:16906017|PMID:19528658|PMID:9193881|PMID:9689128 3234 Oprm1 opioid receptor, mu 1 gene DOID:2560 morphine dependence ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3720824 3234 Oprm1 opioid receptor, mu 1 gene DOID:303 substance-related disorder ISO RGD:737513 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 3234 Oprm1 opioid receptor, mu 1 gene DOID:480 movement disease ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 3234 Oprm1 opioid receptor, mu 1 gene DOID:526 human immunodeficiency virus infectious disease IEP D RGD:2316609|PMID:17553897 20100217 RGD mRNA:increased expression:macrophage 3234 Oprm1 opioid receptor, mu 1 gene DOID:630 genetic disease ISO RGD:737513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3234 Oprm1 opioid receptor, mu 1 gene DOID:646 viral encephalitis ISO RGD:737513 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 3234 Oprm1 opioid receptor, mu 1 gene DOID:670 amphetamine abuse ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 3234 Oprm1 opioid receptor, mu 1 gene DOID:8646 substance-induced psychosis ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 3234 Oprm1 opioid receptor, mu 1 gene DOID:9000641 Pain IDA D RGD:2316589|PMID:12710986 20100217 RGD 3234 Oprm1 opioid receptor, mu 1 gene DOID:9001581 Constipation ISO RGD:737513 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 3234 Oprm1 opioid receptor, mu 1 gene DOID:9002211 Hyperalgesia ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17996026 3234 Oprm1 opioid receptor, mu 1 gene DOID:9002916 Hyperphagia IMP D RGD:9831410|PMID:9808678 20150305 RGD 3234 Oprm1 opioid receptor, mu 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2316611|PMID:17360495 20100217 RGD mRNA, protein:decreased expression:hippocampus 3234 Oprm1 opioid receptor, mu 1 gene DOID:9004086 AIDS Dementia Complex ISO RGD:737513 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 3234 Oprm1 opioid receptor, mu 1 gene DOID:9004751 Nausea ISO RGD:737513 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 3234 Oprm1 opioid receptor, mu 1 gene DOID:9005372 Inflammation IEP D RGD:2316601|PMID:19298846 20100217 RGD protein:increased internalization:spinal cord 3234 Oprm1 opioid receptor, mu 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12815747|PMID:16893609|PMID:18762918 3234 Oprm1 opioid receptor, mu 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2316626|PMID:16901587 20100218 RGD 3234 Oprm1 opioid receptor, mu 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 3234 Oprm1 opioid receptor, mu 1 gene DOID:9005968 Neuralgia ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14718584|PMID:18400411 3234 Oprm1 opioid receptor, mu 1 gene DOID:9006202 Pruritus ISO RGD:737513 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 3234 Oprm1 opioid receptor, mu 1 gene DOID:9008675 Dyskinesias ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 3234 Oprm1 opioid receptor, mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20201854 3236 Otc ornithine transcarbamylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732939 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3236 Otc ornithine transcarbamylase gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:732939 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 3236 Otc ornithine transcarbamylase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:732939 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 3236 Otc ornithine transcarbamylase gene DOID:12849 autistic disorder ISO RGD:732939 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3236 Otc ornithine transcarbamylase gene DOID:13580 cholestasis IEP D RGD:4143230|PMID:15916970 20100920 RGD protein:decreased activity:liver (rat) 3236 Otc ornithine transcarbamylase gene DOID:1561 cognitive disorder ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 3236 Otc ornithine transcarbamylase gene DOID:630 genetic disease ISO RGD:732939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10946359|PMID:16786505|PMID:17041896|PMID:17334707|PMID:17565723|PMID:17576681|PMID:18440262|PMID:23769969|PMID:24010702|PMID:2474822|PMID:25433810|PMID:25741868|PMID:25994866|PMID:28266016|PMID:2836378|PMID:28492532|PMID:28887792|PMID:34014569|PMID:8260194|PMID:8829665|PMID:8830175|PMID:9286441|PMID:9536098|PMID:9610619 3236 Otc ornithine transcarbamylase gene DOID:684 hepatocellular carcinoma severity ISO RGD:732939 D RGD:152995286|PMID:30901224 20220614 RGD mRNA:altered expression:liver tumor (human) 3236 Otc ornithine transcarbamylase gene DOID:9000722 Animal Hepatitis IEP D RGD:2303519|PMID:8821709 20101001 RGD protein:increased expression:plasma 3236 Otc ornithine transcarbamylase gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:4144059|PMID:19101528 20100930 RGD protein:increased expression:serum (rat) 3236 Otc ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:4144080|PMID:7865721 20101001 RGD protein:decreased activity:liver (rat) 3236 Otc ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3236 Otc ornithine transcarbamylase gene DOID:9001708 Hemorrhagic Shock IEP D RGD:1643525|PMID:17224795 20100930 RGD protein:increased activity:serum (rat) 3236 Otc ornithine transcarbamylase gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4144077|PMID:8929856 20101001 RGD mRNA:altered expression:liver (rat) 3236 Otc ornithine transcarbamylase gene DOID:9002802 Acidoses IEP D RGD:4144071|PMID:9472964 20100930 RGD protein:increased activity:liver (rat) 3236 Otc ornithine transcarbamylase gene DOID:9002955 Nerve Degeneration ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 3236 Otc ornithine transcarbamylase gene DOID:9004009 Reperfusion Injury IEP D RGD:4144083|PMID:1499453 20101001 RGD protein:increased activity:serum 3236 Otc ornithine transcarbamylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732939 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3236 Otc ornithine transcarbamylase gene DOID:9004484 Sepsis IEP D RGD:4144069|PMID:10353541 20100930 RGD mRNA:decreased expression:liver (rat) 3236 Otc ornithine transcarbamylase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4144123|PMID:9628242 20101006 RGD protein:decreased activity:small intestine (rat) 3236 Otc ornithine transcarbamylase gene DOID:9005930 Endotoxemia ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 3236 Otc ornithine transcarbamylase gene DOID:9007820 Sudden Death ISO RGD:732939 D RGD:1601074|PMID:17262046 20070405 RGD 3236 Otc ornithine transcarbamylase gene DOID:9007874 Liver Failure IEP D RGD:70249|PMID:11779202 20100823 RGD mRNA:increased expression:liver (rat) 3236 Otc ornithine transcarbamylase gene DOID:9008086 Developmental Disabilities ISO RGD:732939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 3236 Otc ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6825366|PMID:8424807|PMID:8562862|PMID:8581365|PMID:8778603|PMID:9598692|PMID:10227223|PMID:11286510|PMID:19669271|PMID:20406775 3236 Otc ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:1600998|PMID:8956038 20070402 RGD DNA:missense mutations:multiple (human) 3236 Otc ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:1600999|PMID:11793468 20070402 RGD DNA:missense mutations:multiple (human) 3236 Otc ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia PMID:17613537|PMID:18204299|PMID:18440262|PMID:25637381|PMID:25741868|PMID:28492532|PMID:33489762|PMID:8807340 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency IMP D RGD:4144079|PMID:7827141 20101001 RGD 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:11039 D RGD:4144085|PMID:2471197 20101001 RGD DNA:missense mutation:exon:EX4p.R129H (mouse) 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8778603|PMID:16677864|PMID:19669271 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:1600998|PMID:8956038 20070402 RGD DNA:missense mutations:multiple (human) 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:1600999|PMID:11793468 20070402 RGD DNA:missense mutations:multiple (human) 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:7240710 20161109 OMIM 3236 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10070627|PMID:10405441|PMID:10502831|PMID:10737985|PMID:10799432|PMID:10869432|PMID:10946359|PMID:11102556|PMID:11117428|PMID:11260212|PMID:11388595|PMID:11745010|PMID:11768581|PMID:11793468|PMID:11793483|PMID:12083811|PMID:12402347|PMID:12536032|PMID:12579493|PMID:1353535|PMID:1480464|PMID:14976564|PMID:15060014|PMID:15174800|PMID:16055928|PMID:16199547|PMID:1627356|PMID:1671317|PMID:16786505|PMID:16969763|PMID:17041896|PMID:17044854|PMID:1721894|PMID:17334707|PMID:17565723|PMID:17576681|PMID:1757964|PMID:17613537|PMID:17922216|PMID:18204299|PMID:18440262|PMID:18487280|PMID:18604903|PMID:18662984|PMID:19138872|PMID:19475717|PMID:19669271|PMID:19783189|PMID:19893582|PMID:2035531|PMID:2037279|PMID:20406775|PMID:20458665|PMID:20817516|PMID:21070677|PMID:21488237|PMID:21956151|PMID:2208768|PMID:22099885|PMID:22340867|PMID:22382802|PMID:2246687|PMID:22494545|PMID:22727265|PMID:23209112|PMID:23278509|PMID:2347583|PMID:23551631|PMID:23568734|PMID:23769969|PMID:24006547|PMID:24010702|PMID:24033266|PMID:24055113|PMID:24199608|PMID:24449986|PMID:2474822|PMID:25011434|PMID:25026867|PMID:25297582|PMID:25425289|PMID:25433810|PMID:2556444|PMID:25637381|PMID:25741868|PMID:25741869|PMID:25853564|PMID:25854183|PMID:25949836|PMID:25994866|PMID:26059767|PMID:26467025|PMID:26574542|PMID:26753873|PMID:26819360|PMID:27070778|PMID:2741942|PMID:27489649|PMID:27738433|PMID:28107167|PMID:28261508|PMID:28266016|PMID:28324312|PMID:2836378|PMID:2843770|PMID:28492532|PMID:28815739|PMID:28887792|PMID:29123827|PMID:29282796|PMID:29581464|PMID:30175132|PMID:30285816|PMID:30626930|PMID:31130284|PMID:31426867|PMID:3170748|PMID:32272297|PMID:32410394|PMID:32793520|PMID:32853555|PMID:32934962|PMID:32995020|PMID:33272297|PMID:33369132|PMID:33489762|PMID:33851512|PMID:34014557|PMID:34014569|PMID:34906067|PMID:36303552|PMID:7474892|PMID:7474905|PMID:7627182|PMID:7860064|PMID:7860066|PMID:7951259|PMID:8019569|PMID:8081398|PMID:8099056|PMID:8112735|PMID:8260194|PMID:8295401|PMID:8364586|PMID:8365726|PMID:8530002|PMID:8566955|PMID:8786061|PMID:8807340|PMID:8829665|PMID:8830175|PMID:8857803|PMID:8863155|PMID:8956038|PMID:8985493|PMID:9007316|PMID:9028466|PMID:9048915|PMID:9056557|PMID:9143919|PMID:9175746|PMID:9266387|PMID:9266388|PMID:9286441|PMID:9427144|PMID:9452024|PMID:9452049|PMID:9501271|PMID:9536098|PMID:9609999|PMID:9610619|PMID:9686344|PMID:9852088 3236 Otc ornithine transcarbamylase gene DOID:936 brain disease ISO RGD:732939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 3236 Otc ornithine transcarbamylase gene DOID:9452 fatty liver disease IEP D RGD:4144061|PMID:18823438 20100930 RGD protein:increased expression:serum (rat) 3236 Otc ornithine transcarbamylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 3236 Otc ornithine transcarbamylase gene DOID:9970 obesity IEP D RGD:4144087|PMID:1330956 20101001 RGD protein:increased activity:liver (rat) 3237 Otx1 orthodenticle homeobox 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736236 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 3237 Otx1 orthodenticle homeobox 1 gene DOID:630 genetic disease ISO RGD:736236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension IEP D RGD:2304174|PMID:16157794 20090309 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension IMP D RGD:2304105|PMID:18562099 20090306 RGD 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:10763 hypertension ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9334988|PMID:18562099 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:10808 gastric ulcer IDA D RGD:2304192|PMID:11764003 20090310 RGD 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:11247 disseminated intravascular coagulation ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15547535 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:12849 autistic disorder ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15288368|PMID:18775368 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:2030 anxiety disorder ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19228979 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:305 carcinoma ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8647655 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:326 ischemia ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:47 prostate disease ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17492653 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:630 genetic disease ISO RGD:737586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4988877|PMID:6407273 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9000053 Headache ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9000197 Edema ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5067144|PMID:5538905 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9000641 Pain IMP D RGD:2304129|PMID:17664006 20090306 RGD 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9000641 Pain ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6094376|PMID:17420069 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9000892 Fetal Distress ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2862618 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9001661 Taste Disorders ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9001916 Fetal Death ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5067144 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9001981 Weight Loss ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18562099 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9002362 Hyperkinesis ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18092152 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9002928 Colonic Neoplasms ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8647655 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9004009 Reperfusion Injury IMP D RGD:2304111|PMID:18403049 20090306 RGD 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737586 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9004657 Weight Gain ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18562099 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8647655|PMID:15089975 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9005274 Polyuria ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20649851 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9005289 Water Intoxication ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:292422|PMID:803783|PMID:3923190|PMID:4988877|PMID:5067144|PMID:5493616|PMID:5528113|PMID:7360068 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9005372 Inflammation ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18940936 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9006024 Hypotension ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11171655 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9006462 Coma ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:292422|PMID:5067144|PMID:19397503 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9006635 Hyponatremia ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3923190|PMID:6407273|PMID:19397503 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9006743 Spasm ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2444298|PMID:3567346|PMID:5784655|PMID:8680739 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9007730 Burns IMP D RGD:2304127|PMID:17826914 20090306 RGD 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9007763 Flushing ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7080326 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2304087|PMID:19234577 20090306 RGD 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9007993 Dehydration IEP D RGD:2304139|PMID:17393298 20090306 RGD mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9008644 Dysmenorrhea ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10440088 3238 Oxt oxytocin/neurophysin I prepropeptide gene DOID:9008941 Muscle Hypertonia ISO RGD:737586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2862618 3239 Oxtr oxytocin receptor gene DOID:0050700 cardiomyopathy ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:736017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20832055 3239 Oxtr oxytocin receptor gene DOID:0060255 rippling muscle disease 2 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14600260|PMID:14663034|PMID:14672715|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9537420 3239 Oxtr oxytocin receptor gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 3239 Oxtr oxytocin receptor gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:736017 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:0110650 long QT syndrome 9 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:31043699|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:0111004 Joubert syndrome 9 ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 3239 Oxtr oxytocin receptor gene DOID:0111191 distal muscular dystrophy Tateyama type ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14663034|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17994539|PMID:18509671|PMID:18583131|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:29961767|PMID:30055862|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:10763 hypertension IEP D RGD:2304174|PMID:16157794 20090309 RGD mRNA:decreased expression:brainstem 3239 Oxtr oxytocin receptor gene DOID:10808 gastric ulcer IMP D RGD:2304192|PMID:11764003 20090310 RGD 3239 Oxtr oxytocin receptor gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 3239 Oxtr oxytocin receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3239 Oxtr oxytocin receptor gene DOID:12849 autistic disorder ISO RGD:736017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15288368|PMID:15992526|PMID:17383819|PMID:17893705|PMID:18207134|PMID:21082655 3239 Oxtr oxytocin receptor gene DOID:1561 cognitive disorder ISO RGD:736017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20347913 3239 Oxtr oxytocin receptor gene DOID:2843 long QT syndrome ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15580566|PMID:15668980|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 3239 Oxtr oxytocin receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 3239 Oxtr oxytocin receptor gene DOID:5419 schizophrenia ISO RGD:736017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20196918 3239 Oxtr oxytocin receptor gene DOID:630 genetic disease ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3239 Oxtr oxytocin receptor gene DOID:9002669 Hypoxia IMP D RGD:2304092|PMID:18655887 20090306 RGD 3239 Oxtr oxytocin receptor gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:736017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 3239 Oxtr oxytocin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736017 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3239 Oxtr oxytocin receptor gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3239 Oxtr oxytocin receptor gene DOID:9007 sudden infant death syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532 3239 Oxtr oxytocin receptor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 3240 P2rx1 purinergic receptor P2X 1 gene DOID:3602 toxic encephalopathy ISO RGD:736780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3240 P2rx1 purinergic receptor P2X 1 gene DOID:3613 Canavan disease ISO RGD:736780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 3240 P2rx1 purinergic receptor P2X 1 gene DOID:630 genetic disease ISO RGD:736780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3241 P2rx7 purinergic receptor P2X 7 gene DOID:14213 hypophosphatasia ISO RGD:730814 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 3241 P2rx7 purinergic receptor P2X 7 gene DOID:2377 multiple sclerosis ISO RGD:730814 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17728465 3241 P2rx7 purinergic receptor P2X 7 gene DOID:3328 temporal lobe epilepsy ISO RGD:730814 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12121326|PMID:19084381 3241 P2rx7 purinergic receptor P2X 7 gene DOID:5082 liver cirrhosis ISO RGD:730814 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32721574 3241 P2rx7 purinergic receptor P2X 7 gene DOID:630 genetic disease ISO RGD:730814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3241 P2rx7 purinergic receptor P2X 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730814 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15258577 3241 P2rx7 purinergic receptor P2X 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730814 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11003599 3241 P2rx7 purinergic receptor P2X 7 gene DOID:9006205 Animal Disease Models ISO RGD:730814 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 3242 P2ry1 purinergic receptor P2Y1 gene DOID:0060903 thrombosis ISO RGD:736104 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 3242 P2ry1 purinergic receptor P2Y1 gene DOID:1875 impotence IDA D RGD:2315809|PMID:19303093 20100219 RGD associated with Diabetes Mellitus, Experimental 3242 P2ry1 purinergic receptor P2Y1 gene DOID:630 genetic disease ISO RGD:736104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3242 P2ry1 purinergic receptor P2Y1 gene DOID:9000998 Brain Injuries IEP D RGD:2315811|PMID:19115395 20100112 RGD protein:increased expression:brain, astrocyte 3243 P2rx6 purinergic receptor P2X 6 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 3243 P2rx6 purinergic receptor P2X 6 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 3243 P2rx6 purinergic receptor P2X 6 gene DOID:1059 intellectual disability ISO RGD:736820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3243 P2rx6 purinergic receptor P2X 6 gene DOID:11198 DiGeorge syndrome ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 3243 P2rx6 purinergic receptor P2X 6 gene DOID:11372 megacolon ISO RGD:736820 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3243 P2rx6 purinergic receptor P2X 6 gene DOID:12583 velocardiofacial syndrome ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 3243 P2rx6 purinergic receptor P2X 6 gene DOID:12849 autistic disorder ISO RGD:736820 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3243 P2rx6 purinergic receptor P2X 6 gene DOID:1826 epilepsy ISO RGD:736820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 3243 P2rx6 purinergic receptor P2X 6 gene DOID:5419 schizophrenia ISO RGD:736820 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3243 P2rx6 purinergic receptor P2X 6 gene DOID:612 primary immunodeficiency disease ISO RGD:736820 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 3243 P2rx6 purinergic receptor P2X 6 gene DOID:630 genetic disease ISO RGD:736820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3243 P2rx6 purinergic receptor P2X 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736820 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3243 P2rx6 purinergic receptor P2X 6 gene DOID:9007661 Dwarfism ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:733481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:733481 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:733481 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome PMID:25741868 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:11476 osteoporosis ISO RGD:733481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:630 genetic disease ISO RGD:733481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9007102 Myocardial Ischemia ISO RGD:733481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733481 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:7240710 20170301 OMIM 3244 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 PMID:25683117|PMID:25741868|PMID:28492532 3245 S100a4 S100 calcium-binding protein A4 gene DOID:0050902 medulloblastoma ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 3245 S100a4 S100 calcium-binding protein A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3245 S100a4 S100 calcium-binding protein A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3245 S100a4 S100 calcium-binding protein A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3245 S100a4 S100 calcium-binding protein A4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 3245 S100a4 S100 calcium-binding protein A4 gene DOID:11664 nephrosclerosis ISO RGD:69040 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 3245 S100a4 S100 calcium-binding protein A4 gene DOID:13100 intracranial vasospasm ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 3245 S100a4 S100 calcium-binding protein A4 gene DOID:1540 parathyroid carcinoma ISO RGD:69040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3245 S100a4 S100 calcium-binding protein A4 gene DOID:1909 melanoma ISO RGD:69040 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 3245 S100a4 S100 calcium-binding protein A4 gene DOID:326 ischemia ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 3245 S100a4 S100 calcium-binding protein A4 gene DOID:5812 MHC class II deficiency ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3245 S100a4 S100 calcium-binding protein A4 gene DOID:630 genetic disease ISO RGD:69040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3245 S100a4 S100 calcium-binding protein A4 gene DOID:8398 osteoarthritis ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 3245 S100a4 S100 calcium-binding protein A4 gene DOID:9000058 Keloid ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 3245 S100a4 S100 calcium-binding protein A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21636539|PMID:21685359 3245 S100a4 S100 calcium-binding protein A4 gene DOID:9002928 Colonic Neoplasms ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685359 3245 S100a4 S100 calcium-binding protein A4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 3245 S100a4 S100 calcium-binding protein A4 gene DOID:9008939 Breast Neoplasms TAS D RGD:1547864|PMID:15856021 19990101 RGD 3245 S100a4 S100 calcium-binding protein A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69040 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3247 Pacsin1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:0050553 JMP syndrome ISO RGD:736787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3247 Pacsin1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:630 genetic disease ISO RGD:736787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3248 Pah phenylalanine hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:735410 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 3248 Pah phenylalanine hydroxylase gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735410 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329 3248 Pah phenylalanine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:12655546|PMID:1601425|PMID:17630668|PMID:1769645|PMID:19292873|PMID:21147011|PMID:22330942|PMID:23348723|PMID:23430547|PMID:23500595|PMID:24296287|PMID:25596310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30389586|PMID:32533790|PMID:32860008|PMID:32905092|PMID:33375644|PMID:8116675|PMID:8401510|PMID:8990013 3248 Pah phenylalanine hydroxylase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:10980574|PMID:11161839|PMID:11244681|PMID:11385716|PMID:11708866|PMID:12501224|PMID:12655553|PMID:14722928|PMID:15464430|PMID:16051511|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17502162|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:21953985|PMID:22698810|PMID:22917871|PMID:23357515|PMID:23430918|PMID:23500595|PMID:23690520|PMID:23792259|PMID:23842451|PMID:23932990|PMID:23942198|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26982749|PMID:27121329|PMID:27243974|PMID:27469133|PMID:27578510|PMID:27620137|PMID:28492532|PMID:28982351|PMID:29288420|PMID:29499199|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30311390|PMID:30459323|PMID:30648773|PMID:31355225|PMID:31623983|PMID:32668217|PMID:32906206|PMID:33465300|PMID:33677757|PMID:33803550|PMID:7833954|PMID:7981714|PMID:8088845|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 3248 Pah phenylalanine hydroxylase gene DOID:1059 intellectual disability ISO RGD:735410 D RGD:1601526|PMID:14654659 20070424 RGD 3248 Pah phenylalanine hydroxylase gene DOID:1059 intellectual disability ISO RGD:735410 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 3248 Pah phenylalanine hydroxylase gene DOID:630 genetic disease ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234516|PMID:10394930|PMID:10408782|PMID:10471838|PMID:10479481|PMID:10495930|PMID:10527663|PMID:10598814|PMID:10679941|PMID:10980574|PMID:11139255|PMID:11161839|PMID:11180595|PMID:11244681|PMID:11326337|PMID:11385716|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11914042|PMID:11999982|PMID:12173030|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655544|PMID:12655546|PMID:12655548|PMID:12655550|PMID:12655553|PMID:1301187|PMID:1301200|PMID:1301202|PMID:1312992|PMID:1349576|PMID:1355066|PMID:14568534|PMID:14654665|PMID:14722928|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15464430|PMID:15503242|PMID:15557004|PMID:15793771|PMID:1601425|PMID:1609797|PMID:16198137|PMID:16256386|PMID:16290003|PMID:1671768|PMID:1671770|PMID:1672290|PMID:1672294|PMID:1679030|PMID:1682495|PMID:16879198|PMID:17096675|PMID:17502162|PMID:17576681|PMID:17630668|PMID:1769645|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18590700|PMID:18937047|PMID:18956252|PMID:19036622|PMID:19062537|PMID:19147918|PMID:19292873|PMID:19394257|PMID:1971144|PMID:1971147|PMID:1981599|PMID:1998345|PMID:2006152|PMID:20082265|PMID:2014036|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2044609|PMID:20457534|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21228398|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22112818|PMID:22330942|PMID:22513348|PMID:22526846|PMID:22763404|PMID:22841515|PMID:22975760|PMID:2309142|PMID:2323773|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23932990|PMID:24033266|PMID:24048906|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24705691|PMID:24941924|PMID:25087612|PMID:25155776|PMID:25525159|PMID:25596310|PMID:2564729|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26210745|PMID:26322415|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27264808|PMID:27469133|PMID:27682710|PMID:28174686|PMID:28492532|PMID:28676969|PMID:2884570|PMID:28851938|PMID:28982351|PMID:29025426|PMID:29288420|PMID:29317692|PMID:29473999|PMID:29499199|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:3008810|PMID:30311390|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30667134|PMID:30668579|PMID:30747360|PMID:30963030|PMID:31164572|PMID:31355225|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32905092|PMID:33101986|PMID:33177615|PMID:33375644|PMID:33465300|PMID:33677757|PMID:33980295|PMID:3615198|PMID:7556322|PMID:7726156|PMID:7807961|PMID:7833927|PMID:7981714|PMID:8051931|PMID:8088845|PMID:8097262|PMID:8116675|PMID:8268925|PMID:8320703|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8533759|PMID:8535445|PMID:8632937|PMID:8659548|PMID:8739972|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8889590|PMID:8981952|PMID:8990013|PMID:9012412|PMID:9101291|PMID:9298832|PMID:9359039|PMID:9399896|PMID:9429153|PMID:9450897|PMID:9521426|PMID:9536098|PMID:9634518|PMID:9781015|PMID:9843368|PMID:9860305 3248 Pah phenylalanine hydroxylase gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 3248 Pah phenylalanine hydroxylase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:11385716|PMID:12655553|PMID:14722928|PMID:16198137|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:22698810|PMID:23357515|PMID:23500595|PMID:23792259|PMID:23932990|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26542770|PMID:26600521|PMID:26666653|PMID:27121329|PMID:27243974|PMID:27620137|PMID:28492532|PMID:32906206|PMID:33803550|PMID:7981714|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 3248 Pah phenylalanine hydroxylase gene DOID:9007139 Hyperphenylalaninemia, Non-Pku Mild ISO RGD:735410 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD PMID:10234516|PMID:10527663|PMID:1301200|PMID:17924342|PMID:18590700|PMID:21871829|PMID:22526846|PMID:25741868|PMID:27469133|PMID:28492532|PMID:8364546|PMID:9450897|PMID:9634518 3248 Pah phenylalanine hydroxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735410 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3248 Pah phenylalanine hydroxylase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:735410 D RGD:1601526|PMID:14654659 20070424 RGD 3248 Pah phenylalanine hydroxylase gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:735410 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:10394930|PMID:11385716|PMID:11524738|PMID:11696894|PMID:12655546|PMID:12655553|PMID:16198137|PMID:16765994|PMID:17924342|PMID:17935162|PMID:18493213|PMID:1971144|PMID:2014036|PMID:21953985|PMID:22763404|PMID:22841515|PMID:23074961|PMID:23357515|PMID:23430918|PMID:23500595|PMID:24350308|PMID:24368688|PMID:2564729|PMID:25741868|PMID:26210745|PMID:26467025|PMID:26542770|PMID:28492532|PMID:29499199|PMID:30963030|PMID:31355225|PMID:8533759|PMID:9101291|PMID:9399896|PMID:9634518|PMID:9781015 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:13207451|PMID:8829656 20170801 RGD DNA:missense mutation:exon:p.G46S (c.136G>A) (human) 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:1358249|PMID:2884570 19990101 RGD DNA:missense mutation:cds:p.R408W (human) 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:1601521|PMID:1361103 20070424 RGD 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:1601523|PMID:17443661 20070424 RGD 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:7240710 20130221 OMIM 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081 3248 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34828281|PMID:35079019|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317 3249 Serpine1 serpin family E member 1 gene DOID:0050830 peripheral artery disease ISO RGD:69014 D RGD:8547710|PMID:9201602 20140220 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:0050847 sleep apnea ISO RGD:69014 D RGD:4144827|PMID:20508215 20101018 RGD protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69014 D RGD:4144837|PMID:18330639 20101018 RGD protein:increased expression:serum: 3249 Serpine1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis IEP D RGD:11073688|PMID:27129290 20160503 RGD mRNA, protein:increased expression:kidney (rat) 3249 Serpine1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis treatment IDA D RGD:11073618|PMID:26999660 20160429 RGD 3249 Serpine1 serpin family E member 1 gene DOID:0050855 renal fibrosis IEP D RGD:11073686|PMID:26869361 20160503 RGD protein:increased expression:kidney (rat) 3249 Serpine1 serpin family E member 1 gene DOID:0050855 renal fibrosis treatment IDA D RGD:11073616|PMID:27018336 20160429 RGD associated with Diabetes Mellitus, Experimental 3249 Serpine1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69014 D RGD:13208508|PMID:24999729 20170809 RGD 3249 Serpine1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:69014 D RGD:8547730|PMID:15878520 20140410 RGD protein:increased expression:oral mucosa (rat) 3249 Serpine1 serpin family E member 1 gene DOID:0060181 ischemic colitis susceptibility ISO RGD:69014 D RGD:13208543|PMID:25656775 20170811 RGD DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:0060496 respiratory allergy ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 3249 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:22352330 3249 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:8547802|PMID:7495343 20140224 RGD associated with Behcet Syndrome;protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis no_association ISO RGD:69014 D RGD:7394765|PMID:12632020 20140224 RGD associated with Behcet Syndrome;DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis susceptibility ISO RGD:69014 D RGD:7175506|PMID:17469143 20121205 RGD associated with Lupus Nephritis;;DNA:insertion/deletion: : 3249 Serpine1 serpin family E member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69014 D RGD:13208545|PMID:25091195 20170811 RGD protein:increased expression:blood: 3249 Serpine1 serpin family E member 1 gene DOID:0080599 Coronavirus infectious disease ISS RGD:11055 D RGD:13592920 20200730 MouseDO 3249 Serpine1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:8547894|PMID:17446839 20140227 RGD protein:increased expression:plasma (rat) 3249 Serpine1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis disease_progression ISO RGD:69014 D RGD:13208542|PMID:15257107 20170811 RGD 3249 Serpine1 serpin family E member 1 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:69014 D RGD:8547756|PMID:22385289 20140220 RGD associated with Graves Disease;protein:increased expression:tears (human) 3249 Serpine1 serpin family E member 1 gene DOID:0081267 graft-versus-host disease Treatment ISO RGD:11055 D RGD:11343779|PMID:26414805 20170809 RGD 3249 Serpine1 serpin family E member 1 gene DOID:0111046 platelet-type bleeding disorder 10 severity ISO RGD:69014 D RGD:13208509|PMID:18820218 20170809 RGD 3249 Serpine1 serpin family E member 1 gene DOID:10247 pleurisy susceptibility ISO RGD:69014 D RGD:13207414|PMID:23052617 20170728 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): 3249 Serpine1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 3249 Serpine1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:2292128|PMID:16952198 20170814 RGD mRNA:increased expression:blood: 3249 Serpine1 serpin family E member 1 gene DOID:10763 hypertension IEP D RGD:28912746|PMID:11907153 20200902 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) 3249 Serpine1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21051829|PMID:22352330 3249 Serpine1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:8547753|PMID:8355419 20140220 RGD protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:10763 hypertension treatment IDA D RGD:11081003|PMID:16645728 20160523 RGD 3249 Serpine1 serpin family E member 1 gene DOID:11054 urinary bladder cancer ISO RGD:69014 D RGD:4144867|PMID:19010488 20101019 RGD 3249 Serpine1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation IEP D RGD:10449432|PMID:23737601 20160523 RGD protein:increased expression:blood (rat) 3249 Serpine1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation treatment IDA D RGD:11080963|PMID:15869603 20160519 RGD associated with Endotoxemia 3249 Serpine1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:4144037|PMID:17667242 20100929 RGD protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:4144039|PMID:16284739 20100929 RGD associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid 3249 Serpine1 serpin family E member 1 gene DOID:11446 sciatic neuropathy treatment IDA D RGD:11075075|PMID:25967608 20160505 RGD 3249 Serpine1 serpin family E member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:69014 D RGD:13208505|PMID:19375763 20170809 RGD protein:increased expression:plasma: 3249 Serpine1 serpin family E member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:69014 D RGD:13208551|PMID:25140773 20170811 RGD associated with Premature Birth;protein:increased expression:blood: 3249 Serpine1 serpin family E member 1 gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:69014 D RGD:14696749|PMID:25987440 20190723 RGD DNA:polymorphism:promoter: 3249 Serpine1 serpin family E member 1 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:69014 D RGD:8547700|PMID:9844142 20140219 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:1184 nephrotic syndrome ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 3249 Serpine1 serpin family E member 1 gene DOID:12361 Graves' disease ISO RGD:69014 D RGD:8547756|PMID:22385289 20140220 RGD protein:increased expression:tears (human) 3249 Serpine1 serpin family E member 1 gene DOID:12361 Graves' disease treatment ISO RGD:69014 D RGD:8547709|PMID:11980614 20140220 RGD 3249 Serpine1 serpin family E member 1 gene DOID:12849 autistic disorder ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19360663 3249 Serpine1 serpin family E member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:69014 D RGD:8547810|PMID:14638747 20140224 RGD human protein in a rat model 3249 Serpine1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 3249 Serpine1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis treatment IEP D RGD:13208548|PMID:22303720 20170811 RGD 3249 Serpine1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:69014 D RGD:8699497|PMID:23304115 20140813 RGD protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69014 D RGD:8699494|PMID:16416371 20140813 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 3249 Serpine1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:8547693|PMID:18341631 20140219 RGD protein:increased expression:serum (human) 3249 Serpine1 serpin family E member 1 gene DOID:13580 cholestasis ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 3249 Serpine1 serpin family E member 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:69014 D RGD:13207412|PMID:18417194 20170728 RGD protein:increased expression:plasma: 3249 Serpine1 serpin family E member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:69014 D RGD:13207334|PMID:19004443 20170726 RGD protein:increased expression:serum: 3249 Serpine1 serpin family E member 1 gene DOID:1389 polyneuropathy ISO RGD:69014 D RGD:8547710|PMID:9201602 20140220 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:69014 D RGD:13208504|PMID:23814118 20170809 RGD mRNA:increased expression:aorta: 3249 Serpine1 serpin family E member 1 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69014 D RGD:14696749|PMID:25987440 20190723 RGD DNA:polymorphism:promoter: 3249 Serpine1 serpin family E member 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:69014 D RGD:4144828|PMID:20429897 20101018 RGD associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:1577 limited scleroderma ISO RGD:11055 D RGD:13208597|PMID:15730388 20170814 RGD mRNA,protein:increased expression:skin: 3249 Serpine1 serpin family E member 1 gene DOID:1612 breast cancer ISO RGD:69014 D RGD:8547748|PMID:15448007 20140220 RGD protein:increased expression:breast, tumor (human) 3249 Serpine1 serpin family E member 1 gene DOID:1686 glaucoma ISO RGD:69014 D RGD:8547695|PMID:15710819 20140219 RGD protein:increased expression:aqueous humor (human) 3249 Serpine1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:8547742|PMID:16244763 20140220 RGD DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:8547805|PMID:15213845 20140224 RGD protein:increased activity:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:1936 atherosclerosis ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 3249 Serpine1 serpin family E member 1 gene DOID:2213 hemorrhagic disease ISO RGD:69014 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 3249 Serpine1 serpin family E member 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:11073692|PMID:26851971 20160503 RGD 3249 Serpine1 serpin family E member 1 gene DOID:2316 brain ischemia treatment IDA D RGD:11073613|PMID:27108052 20160429 RGD 3249 Serpine1 serpin family E member 1 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:69014 D RGD:13208510|PMID:10739162 20170809 RGD protein:increased expression:plasma: 3249 Serpine1 serpin family E member 1 gene DOID:2841 asthma IEP D RGD:4144836|PMID:18594148 20101018 RGD protein:increased activity, increased expression:plasma, lung 3249 Serpine1 serpin family E member 1 gene DOID:2841 asthma no_association ISO RGD:69014 D RGD:4144833|PMID:19604112 20101018 RGD DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:2841 asthma severity ISO RGD:69014 D RGD:4144831|PMID:19703828 20101018 RGD protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:2841 asthma susceptibility ISO RGD:69014 D RGD:4144832|PMID:19063817 20101018 RGD DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:2921 glomerulonephritis treatment ISO RGD:69014 D RGD:13208810|PMID:12897205 20170816 RGD 3249 Serpine1 serpin family E member 1 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:69014 D RGD:13207415|PMID:22736074 20170728 RGD DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:3070 high grade glioma ISO RGD:69014 D RGD:13208546|PMID:14977830 20170811 RGD protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:3082 interstitial lung disease susceptibility ISO RGD:69014 D RGD:4144846|PMID:12765340 20101019 RGD Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:6484146|PMID:17651644 20120612 RGD protein:increased expression:bronchus 3249 Serpine1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69014 D RGD:4144041|PMID:11929177 20100929 RGD 3249 Serpine1 serpin family E member 1 gene DOID:3192 neurilemmoma ISO RGD:69014 D RGD:13208544|PMID:14963743 20170811 RGD mRNA,protein:increased expression:schwann cell 3249 Serpine1 serpin family E member 1 gene DOID:3355 fibrosarcoma severity ISO RGD:11055 D RGD:8547752|PMID:11059781 20140220 RGD 3249 Serpine1 serpin family E member 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:69014 D RGD:1580190|PMID:9484978 19990101 RGD DNA:insertion:promoter: (human) 3249 Serpine1 serpin family E member 1 gene DOID:3490 Noonan syndrome ISO RGD:69014 D RGD:13207331|PMID:20686427 20170726 RGD protein:decreased activity:blood: 3249 Serpine1 serpin family E member 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:1580876|PMID:14512838 20150324 RGD 3249 Serpine1 serpin family E member 1 gene DOID:3526 cerebral infarction treatment IDA D RGD:11075081|PMID:25702149 20160505 RGD 3249 Serpine1 serpin family E member 1 gene DOID:3627 aortic aneurysm treatment IMP D RGD:8547863|PMID:9697825 20140226 RGD 3249 Serpine1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:4144842|PMID:16224526 20101018 RGD protein:increased activity:plasma 3249 Serpine1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69014 D RGD:4143513|PMID:20061390 20100928 RGD Idiopathic Pulmonary Fibrosis 3249 Serpine1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis treatment IMP D RGD:8547927|PMID:22659625 20140228 RGD 3249 Serpine1 serpin family E member 1 gene DOID:3891 placental insufficiency ISO RGD:69014 D RGD:11557202|PMID:26903689 20170726 RGD protein:increased expression:plasma: 3249 Serpine1 serpin family E member 1 gene DOID:409 liver disease ISO RGD:69014 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 3249 Serpine1 serpin family E member 1 gene DOID:418 systemic scleroderma ISO RGD:69014 D RGD:11343779|PMID:26414805 20170809 RGD protein:increased expression:dermis,microvessel: 3249 Serpine1 serpin family E member 1 gene DOID:4448 macular degeneration ISO RGD:69014 D RGD:8547755|PMID:17675241 20140220 RGD protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:4481 allergic rhinitis ISO RGD:11055 D RGD:8547809|PMID:21339035 20140224 RGD mRNA:increased expression:nasal mucosa (mouse) 3249 Serpine1 serpin family E member 1 gene DOID:4483 rhinitis susceptibility ISO RGD:69014 D RGD:4144832|PMID:19063817 20101018 RGD DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69014 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3249 Serpine1 serpin family E member 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69014 D RGD:14696749|PMID:25987440 20190723 RGD DNA:polymorphism:promoter: 3249 Serpine1 serpin family E member 1 gene DOID:5199 ureteral obstruction IEP D RGD:8547912|PMID:11832778 20140228 RGD mRNA:increased expression:kidney (rat) 3249 Serpine1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:69014 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 3249 Serpine1 serpin family E member 1 gene DOID:5199 ureteral obstruction treatment IDA D RGD:8547941|PMID:12365557 20140227 RGD 3249 Serpine1 serpin family E member 1 gene DOID:552 pneumonia ISO RGD:69014 D RGD:4143511|PMID:20473240 20100928 RGD Pneumonia, Ventilator-Associated; protein:increased expression:Bronchoalveolar Lavage Fluid 3249 Serpine1 serpin family E member 1 gene DOID:552 pneumonia disease_progression ISO RGD:69014 D RGD:4143525|PMID:19387177 20100928 RGD DNA:polymorphism:promoter: 3249 Serpine1 serpin family E member 1 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:69014 D RGD:8547730|PMID:15878520 20140220 RGD protein:increased expression:oral mucosa (human) 3249 Serpine1 serpin family E member 1 gene DOID:5844 myocardial infarction IMP D RGD:8547882|PMID:16053971 20140227 RGD 3249 Serpine1 serpin family E member 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69014 D RGD:1626626|PMID:12477941 20140221 RGD DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:11055 D RGD:13208541|PMID:12615902 20170811 RGD protein:decreased expression, decreased activity:heart: 3249 Serpine1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction disease_progression ISO RGD:11055 D RGD:13208541|PMID:12615902 20170811 RGD 3249 Serpine1 serpin family E member 1 gene DOID:6000 congestive heart failure ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 3249 Serpine1 serpin family E member 1 gene DOID:6039 uveal melanoma treatment ISO RGD:69014 D RGD:8547806|PMID:9326241 20140224 RGD human gene in mouse model 3249 Serpine1 serpin family E member 1 gene DOID:630 genetic disease ISO RGD:69014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3249 Serpine1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:4143527|PMID:20300292 20100928 RGD DNA:polymorphism:3'utr 3249 Serpine1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:4143529|PMID:18337154 20100928 RGD mRNA, protein:decreased expression:lung 3249 Serpine1 serpin family E member 1 gene DOID:6432 pulmonary hypertension treatment IDA D RGD:11073610|PMID:27115515 20160429 RGD 3249 Serpine1 serpin family E member 1 gene DOID:74 hematopoietic system disease treatment IDA D RGD:11080965|PMID:20539915 20160519 RGD 3249 Serpine1 serpin family E member 1 gene DOID:767 muscular atrophy IEP D RGD:4144861|PMID:19574431 20101019 RGD mRNA:increased expression:muscle 3249 Serpine1 serpin family E member 1 gene DOID:7693 abdominal aortic aneurysm IMP D RGD:4144856|PMID:20554458 20101019 RGD 3249 Serpine1 serpin family E member 1 gene DOID:783 end stage renal disease ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 3249 Serpine1 serpin family E member 1 gene DOID:783 end stage renal disease treatment IDA D RGD:11073683|PMID:26903149 20160503 RGD 3249 Serpine1 serpin family E member 1 gene DOID:7998 hyperthyroidism ISO RGD:69014 D RGD:8547758|PMID:14512089 20140221 RGD protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:8432 polycythemia IEP D RGD:11080746|PMID:9405184 20160519 RGD associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat) 3249 Serpine1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:4143512|PMID:20110652 20100928 RGD Ventilator-Induced Lung Injury; mRNA, protein:increased expression, increased activity:Bronchoalveolar Lavage Fluid, plasma 3249 Serpine1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:4143514|PMID:19855955 20100928 RGD Acute Lung Injury; protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:850 lung disease severity ISO RGD:69014 D RGD:4144040|PMID:12730079 20100929 RGD acute lung injury; associated with Pulmonary Edema; protein:increased expression:lung, plasma 3249 Serpine1 serpin family E member 1 gene DOID:863 nervous system disease ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 3249 Serpine1 serpin family E member 1 gene DOID:874 bacterial pneumonia severity ISO RGD:11055 D RGD:4144840|PMID:17032919 20101018 RGD 3249 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy ISO RGD:69014 D RGD:8547710|PMID:9201602 20140220 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:8547699|PMID:12660488 20140219 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:8547740|PMID:7974340 20140220 RGD associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human) 3249 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:8547697|PMID:23281898 20140219 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:8547741|PMID:19419896 20140220 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3249 Serpine1 serpin family E member 1 gene DOID:9000367 Multiple Trauma IEP D RGD:11073720|PMID:26632604 20160504 RGD protein:increased expression:plasma (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9000613 Hyaline Membrane Disease ISO RGD:11055 D RGD:4144850|PMID:8981909 20101019 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9000656 Penetrating Wounds IEP D RGD:11075080|PMID:25794881 20160505 RGD mRNA:increased expression:dorsal skin (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:11081010|PMID:18768578 20160524 RGD associated with Pneumonia, Pneumococcal;protein:increased expression:bronchoalveolar lavage fluid (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9000972 Fever susceptibility ISO RGD:69014 D RGD:13207414|PMID:23052617 20170728 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): 3249 Serpine1 serpin family E member 1 gene DOID:9001542 Albuminuria ISO RGD:69014 D RGD:8547710|PMID:9201602 20140220 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:9001642 Intestinal Polyps treatment ISO RGD:11055 D RGD:13208598|PMID:18258607 20170814 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69014 D RGD:13208600|PMID:16221712 20170814 RGD protein:increased expression:kidney: 3249 Serpine1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:69014 D RGD:13208601|PMID:18192922 20170814 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:8547901|PMID:12353078 20140227 RGD protein:increased activity:plasma (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1580123|PMID:15322501 19990101 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 3249 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:8547711|PMID:10809802 20140220 RGD associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:11073694|PMID:26712211 20160503 RGD associated with Diabetes Mellitus, Experimental 3249 Serpine1 serpin family E member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69014 D RGD:13208595|PMID:8018914 20170814 RGD associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: 3249 Serpine1 serpin family E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 3249 Serpine1 serpin family E member 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69014 D RGD:13208550|PMID:25530106 20170811 RGD protein:increased expression:peritoneal fluid: 3249 Serpine1 serpin family E member 1 gene DOID:9002514 Neointima ISO RGD:69014 D RGD:8547913|PMID:19574558 20140228 RGD human protein in rat model 3249 Serpine1 serpin family E member 1 gene DOID:9002514 Neointima treatment IMP D RGD:8547879|PMID:18091579 20140227 RGD associated with Diabetes Mellitus, Type 2 3249 Serpine1 serpin family E member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:13208549|PMID:11733372 20170811 RGD mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: 3249 Serpine1 serpin family E member 1 gene DOID:9002906 Multiple Organ Failure treatment IDA D RGD:11081009|PMID:16977483 20160524 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11055 D RGD:8547749|PMID:19443721 20140220 RGD mRNA, protein:increased expression:retina (mouse) 3249 Serpine1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy severity ISO RGD:11055 D RGD:8547749|PMID:19443721 20140220 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment IEP D RGD:13208592|PMID:11133880 20170814 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:8547914|PMID:11961044 20140228 RGD associated with Hypertension;mRNA, protein:increased expression:heart left ventricle (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis treatment IDA D RGD:8547923|PMID:15604340 20140228 RGD associated with Metabolic Syndrome X 3249 Serpine1 serpin family E member 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:69014 D RGD:4144038|PMID:17207889 20100929 RGD associated with carcinoma, non-small-cell lung; protein:increased expression:lung 3249 Serpine1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:8547738|PMID:10218712 20140220 RGD protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:8547804|PMID:24446892 20140224 RGD protein:increased expression:serum (human) 3249 Serpine1 serpin family E member 1 gene DOID:9003291 Aggressive Fibromatosis susceptibility ISO RGD:69014 D RGD:13208596|PMID:17160433 20170814 RGD associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:9003379 Radiation Nephropathy treatment IEP D RGD:12880012|PMID:8995730 20170814 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:69014 D RGD:8547715|PMID:17549286 20140220 RGD DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:9003646 Arterial Thrombosis IEP D RGD:11073687|PMID:26857113 20160503 RGD protein:increased expression:plasma (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:69014 D RGD:2316117|PMID:19587273 20100126 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:69014 D RGD:10755472|PMID:18685811 20190723 RGD DNA:polymorphism:promoter: 3249 Serpine1 serpin family E member 1 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:69014 D RGD:8547731|PMID:22672326 20140220 RGD DNA:deletion, haplotype:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:9003841 Acquired Protein C Deficiency IEP D RGD:11080962|PMID:18182560 20160519 RGD associated with Sepsis;protein:increased activity:lung (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis IEP D RGD:11060966|PMID:26535698 20160504 RGD mRNA:increased expression:femoral vein (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis IMP D RGD:8547875|PMID:9535178 20140227 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:69014 D RGD:1580132|PMID:14653439 19990101 RGD DNA:deletion:promoter:g.-676_-674delG (human) 3249 Serpine1 serpin family E member 1 gene DOID:9004484 Sepsis ISO RGD:69014 D RGD:4144830|PMID:19753144 20101018 RGD associated with Pneumonia; protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:9004484 Sepsis treatment IDA D RGD:1598921|PMID:12000738 20160524 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury IEP D RGD:11080967|PMID:10745022 20160519 RGD associated with Shock, Hemorrhagic;mRNA:increased expression:lung (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment IDA D RGD:11075078|PMID:25934465 20160505 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment IDA D RGD:11080962|PMID:18182560 20160519 RGD associated with Sepsis 3249 Serpine1 serpin family E member 1 gene DOID:9004702 Pregnancy Complications ISO RGD:69014 D RGD:13208506|PMID:10909993 20170809 RGD DNA:polymorphism:promoter:rs1799768 (human) 3249 Serpine1 serpin family E member 1 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:11055 D RGD:11073690|PMID:26856544 20160503 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9004874 Dermal Fibrosis treatment ISO RGD:11055 D RGD:11343779|PMID:26414805 20170809 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11055 D RGD:8547862|PMID:20630999 20140226 RGD protein:increased expression:heart (mouse) 3249 Serpine1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21757225 3249 Serpine1 serpin family E member 1 gene DOID:9005930 Endotoxemia IEP D RGD:5147765|PMID:21396682 20120322 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9005930 Endotoxemia treatment IDA D RGD:10449434|PMID:25396762 20160524 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9005941 Rhinosinusitis ISO RGD:69014 D RGD:6483796|PMID:21711960 20140220 RGD protein:increased expression:nasal mucosa (human) 3249 Serpine1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions IEP D RGD:11073723|PMID:26419644 20160504 RGD protein:increased expression:peritoneal fluid (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions treatment IDA D RGD:11073682|PMID:26790972 20160503 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:11055 D RGD:8547735|PMID:12766088 20140220 RGD mRNA:increased expression:retina (mouse) 3249 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:69014 D RGD:8547737|PMID:11292663 20140220 RGD human gene in mouse model 3249 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental severity ISO RGD:11055 D RGD:8547735|PMID:12766088 20140220 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment IDA D RGD:11073722|PMID:26610445 20160504 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11075082|PMID:25617690 20160505 RGD mRNA:increased expression:carotid artery (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9006205 Animal Disease Models ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 3249 Serpine1 serpin family E member 1 gene DOID:9006646 Metabolic Syndrome treatment IDA D RGD:11073736|PMID:26084260 20160504 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:69014 D RGD:8547720|PMID:17846288 20140220 RGD protein:increased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:9006827 Lung Reperfusion Injury treatment IDA D RGD:11080966|PMID:11606484 20160519 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:11075083|PMID:25561792 20160505 RGD mRNA:increased expression:liver (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9007096 Stroke ISO RGD:69014 D RGD:4144847|PMID:11450024 20101019 RGD protein:increased expression:plasma 3249 Serpine1 serpin family E member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:69014 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 3249 Serpine1 serpin family E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69014 D RGD:14696750|PMID:23183238 20190723 RGD associated with precursor lymphoblastic lymphoma/leukemia;DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) 3249 Serpine1 serpin family E member 1 gene DOID:9007692 Insulin Resistance IEP D RGD:8547949|PMID:19776253 20140303 RGD mRNA:increased expression:white adipose tissue (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9007692 Insulin Resistance treatment IDA D RGD:11073726|PMID:26188590 20160504 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:13208507|PMID:17983428 20170809 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9007755 Intestinal Reperfusion Injury IDA D RGD:11081012|PMID:12717359 20160524 RGD protein:increased activity:plasma (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9007783 Vascular Depression treatment IDA D RGD:11073724|PMID:26286041 20160614 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:11073621|PMID:26958805 20160429 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9008217 Hemorrhage IEP D RGD:11073619|PMID:26970714 20160429 RGD protein:increased expression:plasma (rat) 3249 Serpine1 serpin family E member 1 gene DOID:9008217 Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 3249 Serpine1 serpin family E member 1 gene DOID:9008217 Hemorrhage treatment IDA D RGD:11080960|PMID:9263399 20160519 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:7240710 20130221 OMIM 3249 Serpine1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:12856128|PMID:15650551|PMID:17656673|PMID:20549826|PMID:21486382|PMID:21681106|PMID:25741868|PMID:28492532|PMID:28771291 3249 Serpine1 serpin family E member 1 gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17846288|REF_RGD_ID:8547720 3249 Serpine1 serpin family E member 1 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal hemorrhage PMID:25741868 3249 Serpine1 serpin family E member 1 gene DOID:9009023 Aortic Remodeling treatment IDA D RGD:11073698|PMID:26693246 20160503 RGD associated with Hypertension 3249 Serpine1 serpin family E member 1 gene DOID:9120 amyloidosis susceptibility ISO RGD:69014 D RGD:13207414|PMID:23052617 20170728 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): 3249 Serpine1 serpin family E member 1 gene DOID:9351 diabetes mellitus treatment IDA D RGD:2312393|PMID:10910004 20160524 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2316116|PMID:19706694 20100126 RGD mRNA:increased expression:kidney 3249 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69014 D RGD:8547723|PMID:8236167 20140220 RGD protein:decreased expression:plasma (human) 3249 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69014 D RGD:1624959|PMID:16855181 20070514 RGD DNA:polymorphism: 3249 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:2312394|PMID:14614217 20160524 RGD 3249 Serpine1 serpin family E member 1 gene DOID:9452 fatty liver disease ISO RGD:69014 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:29684222 3249 Serpine1 serpin family E member 1 gene DOID:9970 obesity ISO RGD:69014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23819014 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1059 intellectual disability ISO RGD:1346880 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1346880 D RGD:2299169|PMID:18347024 20080813 RGD protein:altered localization 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:156430322|PMID:28055013 20230224 RGD mRNA:increased expression:breast 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:2299165|PMID:17486065 20080813 RGD DNA:amplification 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:2299167|PMID:16705121 20080813 RGD 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:2154 nephroblastoma ISO RGD:1346880 D RGD:2299168|PMID:12165855 20080813 RGD mRNA:increased expression:kidney 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:2316 brain ischemia IEP D RGD:2299171|PMID:17997827 20080815 RGD protein:increased expression:brain 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1346880 D RGD:2299157|PMID:18167251 20080813 RGD protein:increased expression:urinary bladder 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:1346880 D RGD:2299164|PMID:17533742 20080813 RGD protein:increased expression:ovary 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17621631 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:2299159|PMID:17621631 20080813 RGD protein:increased expression:kidney 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:5419 schizophrenia ISO RGD:1346880 D RGD:11533950|PMID:22458949 20160913 RGD protein:decreased threonine phosphorylation:anterior cingulate cortex, dorsolateral prefrontal cortex 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:576 proteinuria ISO RGD:1346880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:630 genetic disease ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10975528|PMID:30290153 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346880 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002514 Neointima IDA D RGD:10041068|PMID:22922962 20160912 RGD 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002514 Neointima IMP D RGD:11533945|PMID:19359598 20160913 RGD 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346880 D RGD:2299166|PMID:16753589 20080813 RGD DNA:amplification 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:736234 D RGD:11533929|PMID:22082674 20160912 RGD 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736234 D RGD:11533929|PMID:22082674 20160912 RGD 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1346880 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346880 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004610 Acute Lung Injury IDA D RGD:11533951|PMID:23546543 20160913 RGD DNA:hypermethylation 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression IEP D RGD:152023731|PMID:22078298 20220427 RGD 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9007096 Stroke ISO RGD:1346880 D RGD:2299171|PMID:17997827 20080815 RGD mRNA, protein:increased expression:brain 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20179234 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:7240710 20190315 OMIM 3250 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders PMID:10975528|PMID:25741868|PMID:28492532|PMID:30290153|PMID:31504246 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731864 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731864 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:731864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:7240710 20130425 OMIM 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 PMID:10946356|PMID:12884430|PMID:17853471|PMID:18523455|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31843706|PMID:32050918|PMID:8826460|PMID:9332663|PMID:9731525 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:1059 intellectual disability ISO RGD:731864 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18523455|PMID:25741868 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:10907 microcephaly ISO RGD:731864 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Microcephaly 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:12849 autistic disorder ISO RGD:731864 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:5419 schizophrenia ISO RGD:731864 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:630 genetic disease ISO RGD:731864 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24556213|PMID:25741868|PMID:26467025|PMID:28492532 3251 Pak3 p21 (RAC1) activated kinase 3 gene DOID:8466 retinal degeneration ISO RGD:736155 D RGD:7775028|PMID:16505058 20131230 RGD mRNA, protein:increased expression:retina 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:1459 hypothyroidism IEP D RGD:2302427|PMID:8940376 20081218 RGD mRNA:increased stability:pituitary gland 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:2030 anxiety disorder ISO RGD:735807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19815072 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:2526 prostate adenocarcinoma ISO RGD:735807 D RGD:6483769|PMID:11221851 20120530 RGD mRNA:increased expression:prostate gland (human) 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:630 genetic disease ISO RGD:735807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9002221 Hyperplasia IEP D RGD:6483575|PMID:11742033 20120525 RGD protein:increased expression:lung, alveolus (rat) 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9002457 Experimental Arthritis IDA D RGD:6483527|PMID:17138865 20120524 RGD 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735807 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9004756 Brain Hypoxia IEP D RGD:6483514|PMID:18818385 20120523 RGD protein:increased activity:brain stem (rat) 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3252 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735807 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:24464100|PMID:30054598 3253 Cntn3 contactin 3 gene DOID:12849 autistic disorder ISO RGD:732842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 3253 Cntn3 contactin 3 gene DOID:3042 allergic contact dermatitis ISO RGD:732842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 3253 Cntn3 contactin 3 gene DOID:630 genetic disease ISO RGD:732842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3254 Reg3b regenerating family member 3 beta gene DOID:11446 sciatic neuropathy IEP D RGD:9831430|PMID:21561713 20150306 RGD mRNA:increased expression:lumbar spinal cord, dorsal root ganglia (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:11832 visual epilepsy IEP D RGD:9831382|PMID:21093549 20150304 RGD mRNA:increased expression:hippocampus, hippocampal region (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:2913 acute pancreatitis severity IMP D RGD:9831433|PMID:18437087 20150306 RGD 3254 Reg3b regenerating family member 3 beta gene DOID:5082 liver cirrhosis ISO RGD:1604065 D RGD:9831380|PMID:10550309 20150304 RGD protein:increased expression:serum (human) 3254 Reg3b regenerating family member 3 beta gene DOID:552 pneumonia IDA D RGD:9831426|PMID:12579542 20150306 RGD 3254 Reg3b regenerating family member 3 beta gene DOID:630 genetic disease ISO RGD:1604065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3254 Reg3b regenerating family member 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1604065 D RGD:9831380|PMID:10550309 20150304 RGD mRNA:increased expression:liver (human) 3254 Reg3b regenerating family member 3 beta gene DOID:9000998 Brain Injuries IEP D RGD:9831399|PMID:19351265 20150305 RGD mRNA:increased expression:cerebral cortex (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:9831386|PMID:15896308 20150304 RGD mRNA:increased expression:hypoglossal nerve (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:9831381|PMID:18774541 20150304 RGD mRNA:increased expression:heart, cardiomyocyte (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:11057 D RGD:9831432|PMID:21245462 20150306 RGD 3254 Reg3b regenerating family member 3 beta gene DOID:9006190 Chronic Pancreatitis IEP D RGD:9831428|PMID:12764608 20150306 RGD protein:increased expression:pancreas, acinar cell, zymogen granule (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:9006190 Chronic Pancreatitis treatment IDA D RGD:9831401|PMID:10505754 20150305 RGD 3254 Reg3b regenerating family member 3 beta gene DOID:9006263 Experimental Pancreatitis IEP D RGD:9999210|PMID:7809015 20150414 RGD protein:increased expression:pancreatic juice (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:9831384|PMID:11066135 20150304 RGD protein:increased expression:serum (rat) 3254 Reg3b regenerating family member 3 beta gene DOID:9352 type 2 diabetes mellitus IEP D RGD:9831427|PMID:24587207 20150306 RGD mRNA:increased expression:islet of Langerhans (rat) 3256 Reg3g regenerating family member 3 gamma gene DOID:10763 hypertension ISO RGD:1351031 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27798352 3256 Reg3g regenerating family member 3 gamma gene DOID:630 genetic disease ISO RGD:1351031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3258 Pax6 paired box 6 gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:11059 D RGD:8551891|PMID:19345209 20140415 RGD DNA:snp:cds:pN64K (mouse) 3258 Pax6 paired box 6 gene DOID:0060648 anterior segment dysgenesis ISO RGD:737459 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:24281366|PMID:32499604 3258 Pax6 paired box 6 gene DOID:0060673 Peters anomaly ISO RGD:11059 D RGD:8551891|PMID:19345209 20140415 RGD DNA:snp:cds:pN64K (mouse) 3258 Pax6 paired box 6 gene DOID:0060673 Peters anomaly ISO RGD:737459 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 3258 Pax6 paired box 6 gene DOID:0060673 Peters anomaly ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:12552561|PMID:12634864|PMID:12721955|PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:24281366|PMID:25741868|PMID:26604670|PMID:28488383|PMID:28492532|PMID:31161946|PMID:32499604|PMID:9727514 3258 Pax6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:7240710 20200219 OMIM 3258 Pax6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE PMID:10441571|PMID:1251879|PMID:12634864|PMID:12721955|PMID:12868034|PMID:14561779|PMID:15086958|PMID:1684738|PMID:17417613|PMID:18776953|PMID:1954207|PMID:25741868|PMID:26604670|PMID:28488383|PMID:28492532|PMID:31161946|PMID:6988567|PMID:9727514 3258 Pax6 paired box 6 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 3258 Pax6 paired box 6 gene DOID:0110233 cataract 27 ISO RGD:737459 D RGD:8552277|PMID:22393272 20141020 RGD associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) 3258 Pax6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:7240710 20130221 OMIM 3258 Pax6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:8551884|PMID:7668281 20140415 RGD DNA:snp:exon:IVS10-2A>T (human) 3258 Pax6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:7627897|PMID:7668281|PMID:9727514 3258 Pax6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:7240710 20130221 OMIM 3258 Pax6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral PMID:12634864|PMID:12721955|PMID:25741868|PMID:28488383|PMID:28492532 3258 Pax6 paired box 6 gene DOID:0111578 Gillespie syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:25741868|PMID:26899008 3258 Pax6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9727514 3258 Pax6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:9727514 3258 Pax6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:31161946|PMID:9727514 3258 Pax6 paired box 6 gene DOID:1059 intellectual disability ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18322702 3258 Pax6 paired box 6 gene DOID:1059 intellectual disability ISO RGD:737459 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3258 Pax6 paired box 6 gene DOID:10603 glucose intolerance ISO RGD:737459 D RGD:2308929|PMID:19034419 20140417 RGD associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human) 3258 Pax6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8552240|PMID:18507827 20140417 RGD human gene in a mouse model 3258 Pax6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:28492532|PMID:29178648|PMID:9727514 3258 Pax6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:29178648|PMID:31161946|PMID:9727514 3258 Pax6 paired box 6 gene DOID:1068 juvenile glaucoma ISS RGD:11059 D RGD:13592920 20180518 MouseDO 3258 Pax6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:7240710 20130221 OMIM 3258 Pax6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:12721955|PMID:25741868|PMID:28492532 3258 Pax6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:7240710 20130221 OMIM 3258 Pax6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:12721955|PMID:25741868 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:11059 D RGD:8551879|PMID:16303964 20140415 RGD DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse) 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:11059 D RGD:8552246|PMID:16080917 20140417 RGD 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:18322702|PMID:30221735 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:12790966|PMID:25366758 20170223 RGD associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:1601209|PMID:9138149 20070410 RGD DNA:mutations:exon, intron:multiple (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8551870|PMID:19862335 20140415 RGD DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8552277|PMID:22393272 20140417 RGD associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8552301|PMID:22550392 20140417 RGD DNA:frameshift mutation:cds:p.P418SfsX87 (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia PMID:14744876|PMID:17417613|PMID:18776953|PMID:25741868|PMID:27013732|PMID:28492532|PMID:9931324 3258 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:8551856|PMID:23734086 20140415 RGD DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:8551858|PMID:20664694 20140415 RGD DNA:deletion:cds:p.R38PfsX12 (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:8551859|PMID:22171157 20140415 RGD DNA:deletion:cds:p.Q297HfsX68 (human) 3258 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:8551860|PMID:22815628 20140415 RGD DNA:nonsense mutation:cds:p.R240X (human) 3258 Pax6 paired box 6 gene DOID:1229 paranoid schizophrenia ISO RGD:737459 D RGD:1358554|PMID:10376119 19990101 RGD DNA:repeats:promoter: (human) 3258 Pax6 paired box 6 gene DOID:12849 autistic disorder IMP D RGD:8552339|PMID:21203536 20140421 RGD 3258 Pax6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18322702 3258 Pax6 paired box 6 gene DOID:14515 WAGR syndrome ISO RGD:737459 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 3258 Pax6 paired box 6 gene DOID:14515 WAGR syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:9727514 3258 Pax6 paired box 6 gene DOID:14692 Smith-Lemli-Opitz syndrome IEP D RGD:8552380|PMID:10564872 20140422 RGD protein:altered expression:embryo, forebrain, hindbrain (rat) 3258 Pax6 paired box 6 gene DOID:1891 optic nerve disease ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721955 3258 Pax6 paired box 6 gene DOID:1909 melanoma ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 3258 Pax6 paired box 6 gene DOID:224 transient cerebral ischemia IEP D RGD:8552354|PMID:24114637 20140421 RGD protein:increased expression:cerebral cortex, striatum, astroglial cell (rat) 3258 Pax6 paired box 6 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737459 D RGD:8552381|PMID:17849422 20140422 RGD protein:increased expression:pancreatic duct (human) 3258 Pax6 paired box 6 gene DOID:3764 Denys-Drash syndrome ISO RGD:737459 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 3258 Pax6 paired box 6 gene DOID:630 genetic disease ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12634864|PMID:25741868|PMID:28321846|PMID:28492532|PMID:28760551|PMID:32360764|PMID:34065151 3258 Pax6 paired box 6 gene DOID:83 cataract ISO RGD:11059 D RGD:8552372|PMID:15161862 20140422 RGD 3258 Pax6 paired box 6 gene DOID:83 cataract ISO RGD:737459 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30221735 3258 Pax6 paired box 6 gene DOID:83 cataract ISO RGD:737459 D RGD:8552253|PMID:10954416 20140417 RGD human gene in a mouse model 3258 Pax6 paired box 6 gene DOID:83 cataract ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:29178648 3258 Pax6 paired box 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3258 Pax6 paired box 6 gene DOID:9001098 Optic Nerve Aplasia, Bilateral ISO RGD:737459 D RGD:8554872 20150127 ClinVar ClinVar Annotator: match by term: Optic nerve aplasia, bilateral PMID:12721955 3258 Pax6 paired box 6 gene DOID:9001575 IRIS COLOBOMA ISO RGD:737459 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 3258 Pax6 paired box 6 gene DOID:9002049 Anophthalmia ISO RGD:737459 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Anophthalmia 3258 Pax6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:8552263|PMID:21589860 20140417 RGD DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human) 3258 Pax6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:8552290|PMID:19124844 20140417 RGD DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human) 3258 Pax6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:8552307|PMID:23213273 20140417 RGD DNA:snp:intron:IVS11+393C>A (rs644242) (human) 3258 Pax6 paired box 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737459 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3258 Pax6 paired box 6 gene DOID:9002455 Aniridia 1 ISO RGD:737459 D RGD:7240710 20160907 OMIM 3258 Pax6 paired box 6 gene DOID:9002455 Aniridia 1 ISO RGD:737459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy PMID:10234503|PMID:10477494|PMID:10694925|PMID:10737978|PMID:10887930|PMID:11284764|PMID:11309364|PMID:11431688|PMID:11479730|PMID:11553050|PMID:11826019|PMID:12015275|PMID:12388550|PMID:1251879|PMID:12552561|PMID:12634864|PMID:12721955|PMID:12731001|PMID:12782766|PMID:12868034|PMID:1302030|PMID:1345175|PMID:14561779|PMID:14744876|PMID:15020706|PMID:15086958|PMID:15150775|PMID:15579687|PMID:15846561|PMID:15889018|PMID:16098226|PMID:16199547|PMID:16493447|PMID:16617299|PMID:16712695|PMID:16785853|PMID:1684738|PMID:17148041|PMID:17406642|PMID:17417613|PMID:17568989|PMID:17576681|PMID:17595013|PMID:17630404|PMID:18241071|PMID:18332330|PMID:18483559|PMID:18776953|PMID:19218613|PMID:1954207|PMID:19862335|PMID:19876904|PMID:19898691|PMID:20054790|PMID:20577777|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21848007|PMID:21850189|PMID:22171686|PMID:22361317|PMID:22393275|PMID:22509105|PMID:22692063|PMID:22893676|PMID:23404109|PMID:23517654|PMID:23734086|PMID:23761016|PMID:23942204|PMID:24138039|PMID:24266705|PMID:24390526|PMID:24623969|PMID:24737507|PMID:25678763|PMID:25741868|PMID:26535646|PMID:26604670|PMID:26661695|PMID:26694549|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27081561|PMID:27124303|PMID:27307692|PMID:27431685|PMID:27455012|PMID:27463523|PMID:27878435|PMID:28231309|PMID:28321846|PMID:28488383|PMID:28492532|PMID:28559085|PMID:29145603|PMID:29217025|PMID:29618921|PMID:29780932|PMID:29914532|PMID:30167917|PMID:30291432|PMID:30315214|PMID:30986449|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32360764|PMID:32467297|PMID:32860008|PMID:33169869|PMID:34101622|PMID:34174135|PMID:34415986|PMID:6988567|PMID:7550230|PMID:7666404|PMID:7951315|PMID:8111279|PMID:8111379|PMID:8364574|PMID:8640214|PMID:8689689|PMID:9138149|PMID:9279758|PMID:9281415|PMID:9452088|PMID:9482572|PMID:9536098|PMID:9727514|PMID:9792406|PMID:9931324 3258 Pax6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:7240710 20131030 OMIM 3258 Pax6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10441571|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18776953|PMID:22361317|PMID:23404109|PMID:25741868|PMID:26604670|PMID:27013732|PMID:28492532|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 3258 Pax6 paired box 6 gene DOID:9003088 O'Donnell Pappas Syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:10441571|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18776953|PMID:22361317|PMID:23404109|PMID:25741868|PMID:26604670|PMID:27013732|PMID:28492532|PMID:31161946|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 3258 Pax6 paired box 6 gene DOID:9003133 Hypertelorism ISO RGD:737459 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 3258 Pax6 paired box 6 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:12868034|PMID:15086958|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:31161946|PMID:9727514 3258 Pax6 paired box 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 3258 Pax6 paired box 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3258 Pax6 paired box 6 gene DOID:9006534 Nervous System Malformations ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19329571 3258 Pax6 paired box 6 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:8552379|PMID:23297010 20140422 RGD protein:increased expression:retina (rat) 3258 Pax6 paired box 6 gene DOID:9008296 Eye Abnormalities IDA D RGD:731242|PMID:9247338 19990101 RGD 3258 Pax6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:737459 D RGD:1601210|PMID:10441571 20070410 RGD 3258 Pax6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:737459 D RGD:1601211|PMID:12721955 20070410 RGD 3258 Pax6 paired box 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9079035|PMID:9363853 3258 Pax6 paired box 6 gene DOID:9009007 Tooth Abnormalities ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9363853 3258 Pax6 paired box 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3258 Pax6 paired box 6 gene DOID:9649 congenital nystagmus ISO RGD:737459 D RGD:8552281|PMID:15629294 20140417 RGD DNA:snp:intron:IVS4+5G>C (human) 3262 Pc pyruvate carboxylase gene DOID:1059 intellectual disability ISO RGD:733418 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3262 Pc pyruvate carboxylase gene DOID:3312 bipolar disorder ISO RGD:733418 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 3262 Pc pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:7240710 20130221 OMIM 3262 Pc pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:737741|PMID:9585612 19990101 RGD DNA:missense mutations:cds:p.A650T, p.M743I (human) 3262 Pc pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:16199547|PMID:17576681|PMID:18676167|PMID:19306334|PMID:23430542|PMID:23973720|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28831725|PMID:30870574|PMID:32581362|PMID:32901917|PMID:9536098|PMID:9585002|PMID:9585612 3262 Pc pyruvate carboxylase gene DOID:630 genetic disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18676167|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9536098 3262 Pc pyruvate carboxylase gene DOID:8584 Burkitt lymphoma ISO RGD:733418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 3262 Pc pyruvate carboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733418 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 3262 Pc pyruvate carboxylase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 3262 Pc pyruvate carboxylase gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:28492532|PMID:32581362 3262 Pc pyruvate carboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3262 Pc pyruvate carboxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733418 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3262 Pc pyruvate carboxylase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 3262 Pc pyruvate carboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:733418 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741903 3262 Pc pyruvate carboxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3263 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:7240710 20160309 OMIM 3263 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency PMID:24133926|PMID:24204001|PMID:24848070|PMID:25333069|PMID:25741868|PMID:27246466|PMID:28492532|PMID:8352282|PMID:8618906|PMID:9585615|PMID:958615|PMID:9760199 3263 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1604063 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3263 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:630 genetic disease ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3263 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1604063 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3263 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9281 phenylketonuria ISO RGD:1604063 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:0110878 holoprosencephaly 5 ISO RGD:736733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:7240710 20130425 OMIM 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10329019|PMID:10518292|PMID:10780784|PMID:11592820|PMID:12385775|PMID:12559849|PMID:14960587|PMID:15059621|PMID:15164333|PMID:15235904|PMID:15464417|PMID:16023992|PMID:16199547|PMID:17051315|PMID:17576681|PMID:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23757202|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:26740382|PMID:27227689|PMID:27489777|PMID:27825584|PMID:27900673|PMID:28492532|PMID:28712602|PMID:29033250|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32252659|PMID:32819290|PMID:33028371|PMID:33473339|PMID:33923806|PMID:6790853|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:4621 holoprosencephaly ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:630 genetic disease ISO RGD:736733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15164333|PMID:15464417|PMID:16199547|PMID:23430860|PMID:25741868|PMID:27227689|PMID:28492532 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736733 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 3264 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9252 amino acid metabolic disorder ISO RGD:736733 D RGD:1600306|PMID:9385377 20070307 RGD propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT 3265 Pccb propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:7240710 20130221 OMIM 3265 Pccb propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10447268|PMID:10502773|PMID:10780784|PMID:10820128|PMID:10910839|PMID:11136555|PMID:11749052|PMID:12007220|PMID:12189489|PMID:12409268|PMID:12559849|PMID:12757933|PMID:12888983|PMID:15059621|PMID:15235904|PMID:15464417|PMID:15890657|PMID:15949719|PMID:16199547|PMID:17051315|PMID:17415538|PMID:17576681|PMID:17966092|PMID:18599334|PMID:19099776|PMID:19238581|PMID:19342984|PMID:20549364|PMID:20725044|PMID:21125326|PMID:2154743|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:22863191|PMID:23053474|PMID:23430860|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24863100|PMID:24916042|PMID:25047749|PMID:25087612|PMID:25636094|PMID:25741868|PMID:25851414|PMID:25865301|PMID:26467025|PMID:26589311|PMID:26830710|PMID:27227689|PMID:27243974|PMID:27578510|PMID:27776753|PMID:27825584|PMID:27896094|PMID:27900673|PMID:28492532|PMID:28649556|PMID:28853722|PMID:29033250|PMID:29247206|PMID:29679984|PMID:30013935|PMID:30274917|PMID:30705822|PMID:31757659|PMID:31808324|PMID:31916709|PMID:32252659|PMID:32778825|PMID:32860008|PMID:33028371|PMID:33473339|PMID:33587123|PMID:33725819|PMID:33923806|PMID:33981581|PMID:34006296|PMID:8023851|PMID:8225321|PMID:8295402|PMID:8411997|PMID:8852656|PMID:9452096|PMID:9536098|PMID:9683601 3265 Pccb propionyl-CoA carboxylase subunit beta gene DOID:630 genetic disease ISO RGD:731965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136555|PMID:11749052|PMID:12757933|PMID:15059621|PMID:15464417|PMID:22033733|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23430860|PMID:24863100|PMID:25741868|PMID:28492532|PMID:30274917|PMID:33473339|PMID:33725819|PMID:9683601 3265 Pccb propionyl-CoA carboxylase subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:731965 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 3265 Pccb propionyl-CoA carboxylase subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731965 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 3265 Pccb propionyl-CoA carboxylase subunit beta gene DOID:9252 amino acid metabolic disorder ISO RGD:731965 D RGD:1600331|PMID:8411997 20070307 RGD propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:15092090|PMID:30038487 20200106 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:10608 celiac disease ISO RGD:1347922 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347922 D RGD:2311642|PMID:17440948 20090728 RGD DNA:SNPs 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1347922 D RGD:10427727|PMID:20574532 20151203 RGD DNA:SNP: :rs8192708(human) 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:4195 hyperglycemia ISO RGD:11062 D RGD:2311645|PMID:16271515 20090728 RGD associated with Diabetes Mellitus, Experimental 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:6000 congestive heart failure ISO RGD:1347922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:630 genetic disease ISO RGD:1347922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347922 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:10448276|PMID:12538794 20151207 RGD mRNA:decreased expression:liver: 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9003263 Phosphoenolpyruvate Carboxykinase Deficiency ISO RGD:1347922 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9003263 Phosphoenolpyruvate Carboxykinase Deficiency ISO RGD:1347922 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase (GTP) deficiency PMID:28492532 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2311641|PMID:17651728 20090728 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005930 Endotoxemia IEP D RGD:10427879|PMID:19268478 20151203 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20170627 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:7240710 20230505 OMIM 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic PMID:1092127|PMID:24863970|PMID:25741868|PMID:26971250|PMID:28216384|PMID:28492532|PMID:33445193 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2311643|PMID:17242918 20090728 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11062 D RGD:2311640|PMID:18443203 20090728 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347922 D RGD:2311639|PMID:19070910 20090727 RGD DNA:SNPs (human) 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:1601239|PMID:16978381 20070411 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:1601241|PMID:16620271 20070411 RGD 3267 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9970 obesity ISO RGD:1347922 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:0080016 spina bifida ISO RGD:733720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16256389 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733720 D RGD:10448277|PMID:8736634 20151207 RGD mRNA:increased expression:cerebral cortex: 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:3069 malignant astrocytoma ISO RGD:733720 D RGD:10448283|PMID:15857672 20151207 RGD protein:decreased expression,decreased activity:brain: 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:3070 high grade glioma IEP D RGD:10448283|PMID:15857672 20151207 RGD mRNA:decreased expression:brain: 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:733721 D RGD:10448278|PMID:23647599 20151207 RGD protein:decreased expression:heart: 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:733720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3268 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 gene DOID:9008752 Aortic Injuries IEP D RGD:10448925|PMID:9188065 20151208 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:0080178 mucositis IEP D RGD:10448991|PMID:21080177 20151210 RGD protein:decreased expression:intestine: 3269 Pcna proliferating cell nuclear antigen gene DOID:0090103 Huntington's disease-like 1 ISO RGD:732094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 3269 Pcna proliferating cell nuclear antigen gene DOID:10534 stomach cancer ameliorates ISO RGD:732094 D RGD:150520156|PMID:26432329 20211026 RGD human cells in mouse model 3269 Pcna proliferating cell nuclear antigen gene DOID:11446 sciatic neuropathy IEP D RGD:10448976|PMID:23014974 20151210 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:11476 osteoporosis IEP D RGD:10045656|PMID:22550338 20151209 RGD protein:increased expression:osteoblast: 3269 Pcna proliferating cell nuclear antigen gene DOID:12217 Lewy body dementia ISO RGD:732094 D RGD:10448971|PMID:20665591 20151209 RGD protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: 3269 Pcna proliferating cell nuclear antigen gene DOID:127 leiomyoma ISO RGD:732094 D RGD:2292498|PMID:18000229 20080421 RGD protein:increased expression:myometrium 3269 Pcna proliferating cell nuclear antigen gene DOID:127 leiomyoma treatment IEP D RGD:10413890|PMID:21896544 20151209 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 3269 Pcna proliferating cell nuclear antigen gene DOID:13603 obstructive jaundice treatment IEP D RGD:10448973|PMID:12917765 20151210 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:1459 hypothyroidism IEP D RGD:10448988|PMID:21273639 20151210 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:2154 nephroblastoma disease_progression ISO RGD:732094 D RGD:2315007|PMID:11869017 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:224 transient cerebral ischemia IEP D RGD:10448974|PMID:9757027 20151210 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:2316 brain ischemia IEP D RGD:729592|PMID:12099899 20091211 RGD protein:increased expression:brain 3269 Pcna proliferating cell nuclear antigen gene DOID:299 adenocarcinoma ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 3269 Pcna proliferating cell nuclear antigen gene DOID:3008 invasive ductal carcinoma severity ISO RGD:732094 D RGD:2315014|PMID:8102204 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:326 ischemia ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 3269 Pcna proliferating cell nuclear antigen gene DOID:3571 liver cancer disease_progression IEP D RGD:151356973|PMID:11797828 20220222 RGD protein:increased expression:liver (rat) 3269 Pcna proliferating cell nuclear antigen gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:732094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 3269 Pcna proliferating cell nuclear antigen gene DOID:4440 seminoma disease_progression ISO RGD:732094 D RGD:2315012|PMID:7474604 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:4450 renal cell carcinoma severity ISO RGD:732094 D RGD:2315008|PMID:11369057 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:630 genetic disease ISO RGD:732094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3269 Pcna proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:10448993|PMID:23219601 20151210 RGD protein:increased expression:liver: 3269 Pcna proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:687 hepatoblastoma ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 3269 Pcna proliferating cell nuclear antigen gene DOID:8893 psoriasis ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 3269 Pcna proliferating cell nuclear antigen gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732094 D RGD:2315009|PMID:10533299 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21931560 3269 Pcna proliferating cell nuclear antigen gene DOID:9000965 Neoplasm Metastasis ISO RGD:732094 D RGD:2315011|PMID:9143022 20091211 RGD associated with Seminoma 3269 Pcna proliferating cell nuclear antigen gene DOID:9002170 Experimental Neoplasms ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 3269 Pcna proliferating cell nuclear antigen gene DOID:9002196 Ataxia-Telangiectasia-Like Disorder 2 ISO RGD:732094 D RGD:7240710 20170215 OMIM 3269 Pcna proliferating cell nuclear antigen gene DOID:9002196 Ataxia-Telangiectasia-Like Disorder 2 ISO RGD:732094 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 PMID:24911150|PMID:25741868 3269 Pcna proliferating cell nuclear antigen gene DOID:9002928 Colonic Neoplasms ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:19723570 3269 Pcna proliferating cell nuclear antigen gene DOID:9004207 Testicular Neoplasms disease_progression ISO RGD:732094 D RGD:2315012|PMID:7474604 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732094 D RGD:2315010|PMID:10374321 20091211 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:9004422 Chagas Cardiomyopathy IEP D RGD:10448990|PMID:12435130 20151210 RGD protein:increased expression:myocardium: 3269 Pcna proliferating cell nuclear antigen gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:732094 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3269 Pcna proliferating cell nuclear antigen gene DOID:9005172 Lung Neoplasms ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 3269 Pcna proliferating cell nuclear antigen gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:10448972|PMID:2567593 20151210 RGD mRNA,protein:increased expression:mammary gland: 3269 Pcna proliferating cell nuclear antigen gene DOID:9005396 Intimal Hyperplasia treatment IMP D RGD:10448975|PMID:8104336 20151210 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:12910856|PMID:26485208 20230215 RGD protein:increased expression:lung (rat) 3269 Pcna proliferating cell nuclear antigen gene DOID:9006182 Carotid Artery Injuries ISO RGD:732095 D RGD:329328927|PMID:25751394 20230425 RGD protein:increased expression:vascular smooth muscle cell carotid artery (mouse) 3269 Pcna proliferating cell nuclear antigen gene DOID:9007502 Brain Neoplasms ISO RGD:732094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 3269 Pcna proliferating cell nuclear antigen gene DOID:9008691 Liver Injury IEP D RGD:10448980|PMID:7906221 20151210 RGD 3269 Pcna proliferating cell nuclear antigen gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732094 D RGD:2315013|PMID:8098267 20091211 RGD 3270 Pcolce procollagen C-endopeptidase enhancer gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733466 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3270 Pcolce procollagen C-endopeptidase enhancer gene DOID:5082 liver cirrhosis ISO RGD:733466 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 3270 Pcolce procollagen C-endopeptidase enhancer gene DOID:630 genetic disease ISO RGD:733466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3270 Pcolce procollagen C-endopeptidase enhancer gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733466 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 3271 Pcp4 Purkinje cell protein 4 gene DOID:127 leiomyoma ISO RGD:731616 D RGD:9850247|PMID:14561813 20150401 RGD mRNA,protein:increased expression:uterine myometrium: 3271 Pcp4 Purkinje cell protein 4 gene DOID:12849 autistic disorder ISO RGD:731616 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3271 Pcp4 Purkinje cell protein 4 gene DOID:12858 Huntington's disease ISO RGD:731616 D RGD:9850159|PMID:9697113 20150331 RGD protein:decreased expression:substantium 3271 Pcp4 Purkinje cell protein 4 gene DOID:1824 status epilepticus IEP D RGD:9850150|PMID:20505763 20150331 RGD mRNA,protein:increased expression:brain: 3271 Pcp4 Purkinje cell protein 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3271 Pcp4 Purkinje cell protein 4 gene DOID:9004004 Water-Electrolyte Imbalance IEP D RGD:9850274|PMID:11003989 20150406 RGD 3271 Pcp4 Purkinje cell protein 4 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:9850273|PMID:19480007 20150406 RGD mRNA,protein:increased expression:cytoplasm: 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency ISO RGD:734345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency PMID:14617756|PMID:17595246|PMID:22210313|PMID:23383060|PMID:23562752|PMID:24041679|PMID:24135795|PMID:24932808|PMID:25272002|PMID:25741868|PMID:26786350|PMID:27187081|PMID:28377240|PMID:28492532|PMID:30383237|PMID:9207799 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency susceptibility ISO RGD:734345 D RGD:7240710 20230517 OMIM 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:10603 glucose intolerance ISO RGD:734346 D RGD:2308929|PMID:19034419 20090618 RGD associated with Hyperinsulinemia, Aniridia; mRNA, protein:decreased expression:pancreatic islet (mouse) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:11832 visual epilepsy IEP D RGD:2308918|PMID:9015327 20090618 RGD mRNA:increased expression:dentate gyrus granule cell layer (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:11981 morbid obesity ISO RGD:734345 D RGD:1357926|PMID:11874690 20070718 RGD 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism IEP D RGD:1600414|PMID:16926379 20090617 RGD protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism IEP D RGD:2308889|PMID:15291740 20090617 RGD mRNA:increased expression:hypothalamus, hippocampus, cortex (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1799 islet cell tumor IEP D RGD:2308920|PMID:7925129 20090618 RGD protein:increased expression:insulinoma (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1924 hypogonadism ISO RGD:734345 D RGD:1357926|PMID:11874690 20070718 RGD 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:28 endocrine system disease ISS RGD:734346 D RGD:13592920 20220602 MouseDO 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia IDA D RGD:2308899|PMID:17131142 20090617 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:hepatocyte (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia IEP D RGD:2308919|PMID:7883951 20090618 RGD associated with Diabetes Mellitus, Experimental; protein, mRNA:altered expression:pancreatic islet (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:630 genetic disease ISO RGD:734345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism IEP D RGD:1601276|PMID:16497799 20090617 RGD protein:decreased expression:paraventricular nucleus, median eminence (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism IEP D RGD:2308889|PMID:15291740 20090617 RGD mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734345 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005372 Inflammation IEP D RGD:2308900|PMID:14630714 20090617 RGD protein:increased expression:paw, leukocyte (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2308905|PMID:11730986 20090617 RGD mRNA, protein:increased expression:spleen, spleen white pulp (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:2308905|PMID:11730986 20090618 RGD mRNA, protein:increased expression:spleen (mouse) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:2308931|PMID:17698597 20090618 RGD protein:increased expression:pancreatic alpha cell (mouse) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005930 Endotoxemia IEP D RGD:6483567|PMID:16337011 20120525 RGD 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007633 Body Weight ISO RGD:734345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007661 Dwarfism ISO RGD:734346 D RGD:737721|PMID:12145326 19990101 RGD 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007993 Dehydration IEP D RGD:2308904|PMID:12411741 20090617 RGD associated with Protein-Energy Malnutrition; protein:increased expression:pituitary (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2308898|PMID:17630003 20090617 RGD 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2298715|PMID:12475375 20090617 RGD protein:altered expression:pancreatic islet (rat) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:2308930|PMID:18941442 20090618 RGD protein:increased expression:pancreatic alpha cell (mouse) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:2308932|PMID:18448419 20090618 RGD protein:decreased expression:pancreatic islet (mouse) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:734345 D RGD:2308935|PMID:8666140 20090618 RGD DNA:missense mutations:cds:p.R53Q, p.Q638E (human) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734346 D RGD:2308934|PMID:16938896 20090618 RGD protein:increased expression:pancreatic islet (mouse) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18604207 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:1357925|PMID:15189116 20070718 RGD 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:1601274|PMID:9207799 20070412 RGD DNA:missense mutation:cds: p.G483R (human) 3272 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:18604207|PMID:22210313|PMID:23383060|PMID:25741868|PMID:28492532 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:0110264 cataract 33 ISO RGD:736345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:28492532 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:5844 myocardial infarction ISO RGD:736345 D RGD:6483554|PMID:20036365 20120524 RGD DNA:SNP:intron: (rs6080699) (human) 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:630 genetic disease ISO RGD:736345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:784 chronic kidney disease IDA D RGD:6483556|PMID:18039782 20120524 RGD 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:6483555|PMID:19142196 20120524 RGD 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:736346 D RGD:6483555|PMID:19142196 20120524 RGD 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005372 Inflammation IEP D RGD:2308900|PMID:14630714 20120525 RGD 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2308905|PMID:11730986 20120524 RGD mRNA:increased expression:spleen 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005930 Endotoxemia IEP D RGD:6483567|PMID:16337011 20120525 RGD 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3273 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:2308936|PMID:7698505 20090619 RGD DNA:repeats:intron:IVS2CA (human) 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:2349 arteriosclerosis ISO RGD:1323167 D RGD:1582622|PMID:15756593 20061115 RGD 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:2717 Bloom syndrome ISO RGD:1323167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:305 carcinoma ISO RGD:1323167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:3393 coronary artery disease ISO RGD:1323167 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:630 genetic disease ISO RGD:1323167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3274 Furin furin (paired basic amino acid cleaving enzyme) gene DOID:9005643 Experimental Diabetes Mellitus disease_progression IEP D RGD:1582625|PMID:16541018 20091221 RGD protein:decreased expression:kidney 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0080690 RASopathy ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111123 nephronophthisis 15 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111971 immunodeficiency 18 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111972 immunodeficiency 19 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111973 immunodeficiency 17 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:1059 intellectual disability ISO RGD:733505 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733505 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:6294 corpus callosum lipoma ISO RGD:733505 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Corpus callosum lipoma PMID:25741868 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:630 genetic disease ISO RGD:733505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:9000629 Preauricular Tag, Isolated, Autosomal Dominant, 1 ISO RGD:733505 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Preauricular skin tag PMID:25741868 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733505 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 3275 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:9007661 Dwarfism ISO RGD:733505 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 3276 Pctp phosphatidylcholine transfer protein gene DOID:630 genetic disease ISO RGD:1353620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3277 Pdc phosducin gene DOID:1540 parathyroid carcinoma ISO RGD:737392 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3277 Pdc phosducin gene DOID:630 genetic disease ISO RGD:737392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3277 Pdc phosducin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737392 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3278 Pde1b phosphodiesterase 1B gene DOID:0080855 Parkinsonism IEP D RGD:2312524|PMID:15305867 20180516 RGD 3278 Pde1b phosphodiesterase 1B gene DOID:630 genetic disease ISO RGD:735556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3278 Pde1b phosphodiesterase 1B gene DOID:8927 learning disability ISO RGD:735556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12077213 3279 Pde4a phosphodiesterase 4A gene DOID:11077 brucellosis IEP D RGD:2302429|PMID:17397885 20081219 RGD mRNA:decreased expression:spleen 3279 Pde4a phosphodiesterase 4A gene DOID:11832 visual epilepsy IEP D RGD:2302430|PMID:16190900 20081219 RGD 3279 Pde4a phosphodiesterase 4A gene DOID:12849 autistic disorder ISO RGD:737080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 3279 Pde4a phosphodiesterase 4A gene DOID:630 genetic disease ISO RGD:737080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3280 Pde4b phosphodiesterase 4B gene DOID:1059 intellectual disability ISO RGD:733361 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 3280 Pde4b phosphodiesterase 4B gene DOID:12849 autistic disorder ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 3280 Pde4b phosphodiesterase 4B gene DOID:1574 alcohol use disorder ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 3280 Pde4b phosphodiesterase 4B gene DOID:2841 asthma ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 3280 Pde4b phosphodiesterase 4B gene DOID:3312 bipolar disorder ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18394866 3280 Pde4b phosphodiesterase 4B gene DOID:37 skin disease ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3280 Pde4b phosphodiesterase 4B gene DOID:5419 schizophrenia ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16293762|PMID:18394866 3280 Pde4b phosphodiesterase 4B gene DOID:630 genetic disease ISO RGD:733361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3280 Pde4b phosphodiesterase 4B gene DOID:670 amphetamine abuse ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 3280 Pde4b phosphodiesterase 4B gene DOID:9007102 Myocardial Ischemia ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3280 Pde4b phosphodiesterase 4B gene DOID:9007730 Burns IEP D RGD:13782127|PMID:29693432 20180822 RGD mRNA:increased expression:extensor digitorum longus muscle 3280 Pde4b phosphodiesterase 4B gene DOID:9007964 Arsenic Poisoning ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3280 Pde4b phosphodiesterase 4B gene DOID:9119 acute myeloid leukemia ISO RGD:733361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 3281 Pde4d phosphodiesterase 4D gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:736102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 3281 Pde4d phosphodiesterase 4D gene DOID:10485 esophageal atresia ISO RGD:736102 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 3281 Pde4d phosphodiesterase 4D gene DOID:1059 intellectual disability ISO RGD:736102 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 3281 Pde4d phosphodiesterase 4D gene DOID:14669 acrodysostosis ISO RGD:736102 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 3281 Pde4d phosphodiesterase 4D gene DOID:14669 acrodysostosis ISO RGD:736102 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 3281 Pde4d phosphodiesterase 4D gene DOID:1596 depressive disorder IMP D RGD:7327149|PMID:22487514 20130912 RGD 3281 Pde4d phosphodiesterase 4D gene DOID:224 transient cerebral ischemia IEP D RGD:7327148|PMID:22860212 20130911 RGD protein:increased expression:hippocampus CA1 3281 Pde4d phosphodiesterase 4D gene DOID:2841 asthma ISO RGD:736102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19426955|PMID:21611147 3281 Pde4d phosphodiesterase 4D gene DOID:630 genetic disease ISO RGD:736102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3281 Pde4d phosphodiesterase 4D gene DOID:670 amphetamine abuse ISO RGD:736102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 3281 Pde4d phosphodiesterase 4D gene DOID:9000998 Brain Injuries IEP D RGD:7327147|PMID:23057870 20130911 RGD mRNA, protein:alternative form, decreased phosphorylation:brain 3281 Pde4d phosphodiesterase 4D gene DOID:9002304 Prostatic Neoplasms ISO RGD:736102 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:16740699|PMID:29662167 3281 Pde4d phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:7240710 20140903 OMIM 3281 Pde4d phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:11200992|PMID:12121997|PMID:15025561|PMID:21681106|PMID:22464250|PMID:23033274|PMID:24033266|PMID:24203977|PMID:25044890|PMID:25064455|PMID:25741868|PMID:28492532|PMID:30006632 3281 Pde4d phosphodiesterase 4D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736102 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3281 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke IEP D RGD:2313907|PMID:17922411 20130912 RGD mRNA:increased expression:blood, leukocyte 3281 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:1581003|PMID:16914755 19990101 RGD 3281 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:1581004|PMID:16825591 19990101 RGD 3281 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:1581005|PMID:16675738 19990101 RGD 3281 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:1581007|PMID:14517540 19990101 RGD 3282 Pdgfa platelet derived growth factor subunit A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 3282 Pdgfa platelet derived growth factor subunit A gene DOID:12215 oligohydramnios IEP D RGD:2292203|PMID:17519529 20080415 RGD mRNA, protein:increased expression:lung 3282 Pdgfa platelet derived growth factor subunit A gene DOID:127 leiomyoma ISO RGD:736070 D RGD:2292153|PMID:16294022 20080411 RGD protein:increased expression:myometrium 3282 Pdgfa platelet derived growth factor subunit A gene DOID:1591 renovascular hypertension IEP D RGD:2289672|PMID:17439406 20080411 RGD mRNA:increased expression:vascular associated smooth muscle cell 3282 Pdgfa platelet derived growth factor subunit A gene DOID:1612 breast cancer ISO RGD:736070 D RGD:2292155|PMID:8619189 20080411 RGD mRNA:increased expression:breast 3282 Pdgfa platelet derived growth factor subunit A gene DOID:2224 essential thrombocythemia ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 3282 Pdgfa platelet derived growth factor subunit A gene DOID:2526 prostate adenocarcinoma ISO RGD:736070 D RGD:2292156|PMID:7524068 20080411 RGD protein:increased expression:prostate 3282 Pdgfa platelet derived growth factor subunit A gene DOID:2696 Leydig cell tumor ISO RGD:736070 D RGD:2298579|PMID:11994382 20080711 RGD protein:increased expression:testis, leydig cell 3282 Pdgfa platelet derived growth factor subunit A gene DOID:305 carcinoma ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3282 Pdgfa platelet derived growth factor subunit A gene DOID:3070 high grade glioma ISO RGD:736070 D RGD:13702894|PMID:21490965 20180723 RGD in a mouse model 3282 Pdgfa platelet derived growth factor subunit A gene DOID:3770 pulmonary fibrosis ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 3282 Pdgfa platelet derived growth factor subunit A gene DOID:4989 pancreatitis IEP D RGD:2292161|PMID:16601314 20080411 RGD associated with Reperfusion Injury;protein:increased expression:blood vessel 3282 Pdgfa platelet derived growth factor subunit A gene DOID:630 genetic disease ISO RGD:736070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3282 Pdgfa platelet derived growth factor subunit A gene DOID:6432 pulmonary hypertension IEP D RGD:1580847|PMID:8447423 19990101 RGD 3282 Pdgfa platelet derived growth factor subunit A gene DOID:850 lung disease ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 3282 Pdgfa platelet derived growth factor subunit A gene DOID:8549 chronic ulcer of skin IEP D RGD:2292163|PMID:16383039 20080411 RGD 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9000081 Lymphatic Metastasis ISO RGD:736070 D RGD:2292155|PMID:8619189 20080411 RGD associated with Breast Neoplasms;mRNA:increased expression:breast 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9000998 Brain Injuries IEP D RGD:11084932|PMID:9645955 20160601 RGD mRNA:increased expression:cerebral cortex, hippocampus 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9001600 Wounds and Injuries IEP D RGD:2292158|PMID:18205704 20080411 RGD 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9002055 Chronic Allograft Nephropathy IEP D RGD:11080974|PMID:11889420 20160519 RGD 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9002165 Diabetic Nephropathies ISO RGD:736070 D RGD:2311649|PMID:12808179 20090728 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:increased expression:kidney 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9002231 Fetal Growth Retardation ISO RGD:736070 D RGD:2311066|PMID:11005132 20090728 RGD mRNA:increased expression:placenta 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9003566 Mesothelioma ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11415934 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9004547 Thyroid Neoplasms ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292404|PMID:12376462 20220330 RGD mRNA, protein:increased expression:mammary gland (rat) 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:736070 D RGD:2298582|PMID:9200407 20080711 RGD mRNA, protein:increased expression:kidney 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9007819 Endocrine Bone Diseases ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 3282 Pdgfa platelet derived growth factor subunit A gene DOID:9008939 Breast Neoplasms ISO RGD:736070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 3283 Pdgfb platelet derived growth factor subunit B gene DOID:0050127 sinusitis ISO RGD:737124 D RGD:6483060|PMID:21255638 20120511 RGD protein: increased expression: nasal cavity epithelium 3283 Pdgfb platelet derived growth factor subunit B gene DOID:0050589 inflammatory bowel disease ISO RGD:737124 D RGD:6482691|PMID:11780721 20120425 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3283 Pdgfb platelet derived growth factor subunit B gene DOID:0080600 COVID-19 severity ISO RGD:737124 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 3283 Pdgfb platelet derived growth factor subunit B gene DOID:0081267 graft-versus-host disease ISO RGD:737124 D RGD:6482796|PMID:21211989 20120503 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:10286 prostate carcinoma ISO RGD:11068 D RGD:13506769|PMID:23297038 20180212 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:10652 Alzheimer's disease ISO RGD:737124 D RGD:10449445|PMID:22279551 20160105 RGD protein:increased expression:plasma: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:10763 hypertension IEP D RGD:10449484|PMID:8869081 20160106 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737124 D RGD:10449444|PMID:24334449 20160105 RGD protein:increased expression:plasma: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:11132 prostatic hypertrophy ISO RGD:737124 D RGD:13506770|PMID:22689130 20180212 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:11832 visual epilepsy IMP D RGD:1581758|PMID:14980813 20160106 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:12215 oligohydramnios IEP D RGD:2292203|PMID:17519529 20080415 RGD mRNA, protein:increased expression:lung 3283 Pdgfb platelet derived growth factor subunit B gene DOID:127 leiomyoma ISO RGD:737124 D RGD:2292153|PMID:16294022 20080414 RGD protein:increased expression:myometrium 3283 Pdgfb platelet derived growth factor subunit B gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737124 D RGD:10449447|PMID:19799585 20160105 RGD protein:increased expression:vitreous: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:13208 background diabetic retinopathy ISO RGD:737124 D RGD:10449447|PMID:19799585 20160105 RGD protein:decreased expression:vitreous: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:13580 cholestasis IEP D RGD:10449495|PMID:10424289 20160107 RGD mRNA,protein:increased expression:cholangiocyte, bible duct: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:182 calcinosis ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 3283 Pdgfb platelet derived growth factor subunit B gene DOID:2224 essential thrombocythemia ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 3283 Pdgfb platelet derived growth factor subunit B gene DOID:2696 Leydig cell tumor ISO RGD:737124 D RGD:2298579|PMID:11994382 20080711 RGD protein:increased expression:testis, leydig cell 3283 Pdgfb platelet derived growth factor subunit B gene DOID:2841 asthma IMP D RGD:6483071|PMID:21216974 20120511 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:11068 D RGD:6483071|PMID:21216974 20120511 RGD protein: increased expression 3283 Pdgfb platelet derived growth factor subunit B gene DOID:2921 glomerulonephritis treatment IMP D RGD:10449490|PMID:11316849 20160107 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3068 glioblastoma ISO RGD:737124 D RGD:6482799|PMID:21210235 20160107 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3070 high grade glioma ISO RGD:737124 D RGD:13702897|PMID:21677873 20180723 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3070 high grade glioma severity ISO RGD:737124 D RGD:13702895|PMID:27448842 20180723 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3070 high grade glioma severity ISO RGD:737124 D RGD:13702896|PMID:26945107 20180723 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3454 brain infarction IMP D RGD:1581758|PMID:14980813 20160106 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:2292195|PMID:12641779 20080414 RGD DNA:gene fusion:exon 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:7240710 20171011 OMIM 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans PMID:28492532 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3565 meningioma ISO RGD:737124 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Meningioma PMID:2212004|PMID:3133569|PMID:3969118 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3594 choriocarcinoma ISO RGD:737124 D RGD:2292200|PMID:8504434 20080415 RGD mRNA:increased expression:mononuclear cytotrophoblast cell 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:11068 D RGD:6482756|PMID:21868503 20120501 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:11068 D RGD:6482831|PMID:22523431 20120507 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 3283 Pdgfb platelet derived growth factor subunit B gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:737124 D RGD:13504817|PMID:25766258 20180125 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:737124 D RGD:13506650|PMID:23879920 20180206 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:7240710 20230505 OMIM 3283 Pdgfb platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 3283 Pdgfb platelet derived growth factor subunit B gene DOID:4989 pancreatitis ISO RGD:737124 D RGD:6483007|PMID:21750433 20120509 RGD protein: increased expression: serum 3283 Pdgfb platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis IEP D RGD:6482830|PMID:22539040 20120507 RGD mRNA: increased expression 3283 Pdgfb platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis IEP D RGD:6482858|PMID:22407906 20120508 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:5199 ureteral obstruction IEP D RGD:10449497|PMID:10644908 20160107 RGD mRNA:increased expression:kidney: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:5679 retinal disease ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11840346 3283 Pdgfb platelet derived growth factor subunit B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737124 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3283 Pdgfb platelet derived growth factor subunit B gene DOID:630 genetic disease ISO RGD:737124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3283 Pdgfb platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension IEP D RGD:1580847|PMID:8447423 19990101 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension IEP D RGD:6482859|PMID:21819559 20120508 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:11068 D RGD:6482831|PMID:22523431 20120507 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:679 basal ganglia disease ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 3283 Pdgfb platelet derived growth factor subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20506153 3283 Pdgfb platelet derived growth factor subunit B gene DOID:7148 rheumatoid arthritis ISO RGD:737124 D RGD:6482653|PMID:1708827 20120425 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000039 Spinal Cord Injuries ISO RGD:11068 D RGD:6482306|PMID:21568693 20120424 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000081 Lymphatic Metastasis ISO RGD:737124 D RGD:2292173|PMID:17674348 20080411 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:11068 D RGD:6482660|PMID:17195235 20120425 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22004089 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:6482673|PMID:8644858 20120425 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:6482691|PMID:11780721 20120425 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000965 Neoplasm Metastasis ISO RGD:737124 D RGD:2292179|PMID:16596190 20080411 RGD associated with Breast Neoplasms;mRNA, protein:increased expression:breast 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9000998 Brain Injuries IEP D RGD:11084932|PMID:9645955 20160601 RGD mRNA:increased expression:cerebral cortex, hippocampus 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9001036 Penetrating Head Injuries IEP D RGD:10449485|PMID:7526956 20160106 RGD protein:increased expression:neuron: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9001547 Tibial Fractures treatment ISO RGD:737124 D RGD:10449446|PMID:17676626 20160105 RGD associated with Osteoporosis; 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries IEP D RGD:2292211|PMID:12533868 20080415 RGD protein:increased expression:skin 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries treatment ISO RGD:737124 D RGD:10449501|PMID:3280728 20160107 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy IEP D RGD:10449491|PMID:15785371 20160107 RGD mRNA:increased expression:kidney: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy IEP D RGD:11080974|PMID:11889420 20160519 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002165 Diabetic Nephropathies ISO RGD:737124 D RGD:2311646|PMID:15067514 20090728 RGD associated with Diabetes Mellitus, Non-Insulin Dependent 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002231 Fetal Growth Retardation ISO RGD:737124 D RGD:2311066|PMID:11005132 20090728 RGD mRNA:increased expression:placenta 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002514 Neointima IEP D RGD:10449489|PMID:8585266 20160107 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002699 Periapical Diseases IEP D RGD:10449488|PMID:17509411 20160106 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:11080975|PMID:16042218 20160519 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10449494|PMID:10215166 20160107 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9004086 AIDS Dementia Complex ISO RGD:737124 D RGD:6482787|PMID:21368226 20120502 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9004237 Hyperoxic Lung Injury IEP D RGD:10449500|PMID:2696512 20160107 RGD mRNA:increased expression:lung: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:7240710 20140911 OMIM 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 PMID:21409505|PMID:23913003|PMID:25741868 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9005372 Inflammation ISO RGD:737124 D RGD:6482691|PMID:11780721 20120425 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:10449499|PMID:9763208 20160107 RGD 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1581759|PMID:12606528 20090728 RGD mRNA:increased expression:retina 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311650|PMID:8094359 20090728 RGD mRNA:increased expression:glomerulus 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6483042|PMID:21367419 20120511 RGD mRNA: increased expression: mesenteric artery 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11068 D RGD:2311648|PMID:14685146 20090728 RGD mRNA:decreased expression:retina 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9006010 Gingival Hyperplasia ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8708960 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:8554477|PMID:10550325 20160107 RGD mRNA,protein:increased expression:tubule, S3 segment: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:737124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23913003 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9008091 Optic Nerve Injuries IEP D RGD:10449496|PMID:9893812 20160107 RGD protein:decreased expression:nerve fiber: 3283 Pdgfb platelet derived growth factor subunit B gene DOID:9008691 Liver Injury IEP D RGD:10449498|PMID:8119696 20160107 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma severity ISO RGD:730916 D RGD:13702904|PMID:25576913 20180724 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:730916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:0080016 spina bifida ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:11069 D RGD:11075097|PMID:22447844 20160506 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:0110213 isolated cleft palate ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:22473090|PMID:24728327|PMID:25741868|PMID:27153395|PMID:28492532 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:10763 hypertension IEP D RGD:11080972|PMID:1657776 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:11446 sciatic neuropathy IEP D RGD:11080976|PMID:19909480 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:12215 oligohydramnios IEP D RGD:2292203|PMID:17519529 20080415 RGD mRNA:increased expression:lung 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:1240 leukemia ISO RGD:730916 D RGD:11075100|PMID:21224473 20160506 RGD DNA:fusion protein, missense mutation: :p.H650Q, p.R748G (human) 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:1520 colon carcinoma ISO RGD:730916 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24033266|PMID:25741868|PMID:28492532 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:2324850|PMID:14695158 20100513 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:2324851|PMID:7665222 20100513 RGD mRNA:increased expression:pancreas 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:1909 melanoma ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:24132921|PMID:28492532 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:2226 myeloproliferative neoplasm ISO RGD:730916 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:22703879|PMID:22718859|PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:2394 ovarian cancer ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22473090|PMID:24728327|PMID:25336117|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30093976|PMID:30359545 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:730916 D RGD:2292156|PMID:7524068 20080411 RGD protein:increased expression:prostate 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:2298579|PMID:11994382 20080711 RGD protein:increased expression:testis, leydig cell 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:2298580|PMID:11920744 20080711 RGD mRNA:alternative form:testis 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:3459 breast carcinoma disease_progression ISO RGD:730916 D RGD:2292178|PMID:16741576 20080411 RGD protein:increased expression:breast 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:11084934|PMID:16917016 20160601 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:3770 pulmonary fibrosis IEP D RGD:11080970|PMID:9458803 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:3827 congenital diaphragmatic hernia ISS RGD:11069 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:3840 craniopharyngioma disease_progression ISO RGD:730916 D RGD:11080971|PMID:20190664 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:730916 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:25741868|PMID:28492532 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:4202 brain stem glioma severity ISO RGD:730916 D RGD:13702892|PMID:20197468 20180723 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:4440 seminoma ISO RGD:730916 D RGD:2292154|PMID:8610136 20080411 RGD mRNA:splice variant:testis 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730916 D RGD:2292157|PMID:12866380 20080411 RGD protein:increased expression:kidney 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730916 D RGD:11075087|PMID:24486648 20160505 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730916 D RGD:11554173 20190115 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:630 genetic disease ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:674 cleft palate ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264099 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:850 lung disease ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:8549 chronic ulcer of skin IEP D RGD:2292163|PMID:16383039 20080411 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:8683 myeloid sarcoma treatment ISO RGD:730916 D RGD:11075098|PMID:22348015 20160506 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:8692 myeloid leukemia ISO RGD:730916 D RGD:11075087|PMID:24486648 20160505 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:8719 in situ carcinoma ISO RGD:730916 D RGD:2292154|PMID:8610136 20080411 RGD mRNA:splice variant:testis 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000099 Experimental Colitis treatment IEP D RGD:11080973|PMID:24115822 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:2292154|PMID:8610136 20080411 RGD mRNA:splice variant:testis 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:2298580|PMID:11920744 20080711 RGD mRNA:alternative form:testis 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000998 Brain Injuries IEP D RGD:11084932|PMID:9645955 20160601 RGD mRNA:increased expression:cerebral cortex, hippocampus 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:11075088|PMID:23114151 20160505 RGD DNA:gene fusion 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:1580848|PMID:15284118 19990101 RGD DNA:translocation: (human) 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:11080969|PMID:17382907 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001916 Fetal Death ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:730916 D RGD:11075089|PMID:22806436 20160505 RGD DNA:gene fusion 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002055 Chronic Allograft Nephropathy IEP D RGD:11080974|PMID:11889420 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002514 Neointima treatment IEP D RGD:11087557|PMID:9323080 20160602 RGD associated with Carotid Artery Injuries 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:730916 D RGD:2298578|PMID:15791568 20080711 RGD protein:decreased expression:ovary 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730916 D RGD:2292199|PMID:8402626 20080711 RGD protein:increased expression:ovary, epithelial cell 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:11080975|PMID:16042218 20160519 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730916 D RGD:2298578|PMID:15791568 20080711 RGD protein:decreased expression:ovary 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9004268 Uterine Neoplasms ISO RGD:730916 D RGD:2292177|PMID:17049587 20080411 RGD 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:8554477|PMID:10550325 20160520 RGD mRNA:increased expression:kidney 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30359545|PMID:30389923|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:33332384|PMID:35101336|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007096 Stroke IEP D RGD:2292165|PMID:15342968 20080411 RGD mRNA, protein:increased expression:cerebral cortex 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007480 Hyperoxia IEP D RGD:1580851|PMID:15722379 20080414 RGD protein:increased expression:vascular associated smooth muscle cell 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:7240710 20200304 OMIM 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:12522257|PMID:14645423|PMID:14699510|PMID:15928335|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:20071345|PMID:22473090|PMID:22703879|PMID:22745105|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:29486293|PMID:3152525|PMID:3152526|PMID:33332384 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20028860 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28166811|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:3152525|PMID:3152526|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25640679|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:16778211|PMID:28347583|PMID:31036733 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:7240710 20131030 OMIM 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome PMID:12660384|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22703879|PMID:22718859|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30359545|PMID:30389923|PMID:33332384|PMID:35101336|PMID:9536098 3284 Pdgfra platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:9693733|PMID:12660384 19990101 RGD DNA:translocation: (human) 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0060041 autism spectrum disorder ISS RGD:11070 D RGD:13592920 20220113 MouseDO 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0060230 basal ganglia calcification ISS RGD:732897 D RGD:13592920 20180518 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080109 infantile myofibromatosis ISO RGD:732897 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080109 infantile myofibromatosis ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBROMATOSIS, CONGENITAL GENERALIZED | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31017643|PMID:31474318|PMID:9536098 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080855 Parkinsonism ISO RGD:732897 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:7240710 20130221 OMIM 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia PMID:25454926|PMID:25741868|PMID:26455322|PMID:28492532 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:10283 prostate cancer IMP D RGD:2292228|PMID:17854058 20080415 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:10763 hypertension IEP D RGD:11080972|PMID:1657776 20160519 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:10763 hypertension IEP D RGD:2292214|PMID:12047046 20080415 RGD protein:increased tyrosine phosphorylation:glomerulus 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732897 D RGD:10053644|PMID:22773904 20160108 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:10907 microcephaly ISO RGD:732897 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:10908 hydrocephalus ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:11446 sciatic neuropathy IEP D RGD:11080976|PMID:19909480 20160519 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:12215 oligohydramnios IEP D RGD:2292203|PMID:17519529 20080415 RGD mRNA:increased expression:lung 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:13619 extrahepatic cholestasis treatment IMP D RGD:10449503|PMID:18466260 20160108 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:1612 breast cancer ISO RGD:732897 D RGD:2292174|PMID:17390053 20080411 RGD protein:increased expression:breast 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:182 calcinosis ISO RGD:732897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:1936 atherosclerosis treatment ISO RGD:11070 D RGD:10449506|PMID:11413086 20160108 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:1969 cerebral palsy ISO RGD:732897 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24796542|PMID:25741868|PMID:31064749 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:732897 D RGD:10450606|PMID:12181402 20160119 RGD DNA:translocation: : 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISS RGD:11070 D RGD:13592920 20180518 MouseDO 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:2696 Leydig cell tumor ISO RGD:732897 D RGD:2298579|PMID:11994382 20080711 RGD protein:increased expression:testis, leydig cell 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:3068 glioblastoma treatment ISO RGD:732897 D RGD:13702903|PMID:24566984 20180724 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:3459 breast carcinoma disease_progression ISO RGD:732897 D RGD:2292178|PMID:16741576 20080411 RGD protein:increased expression:breast 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:11084934|PMID:16917016 20160601 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:3594 choriocarcinoma ISO RGD:732897 D RGD:2292200|PMID:8504434 20080415 RGD mRNA:increased expression:mononuclear cytotrophoblast cell 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:2290496|PMID:16865223 20080415 RGD mRNA:increased expression:kidney 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:2292198|PMID:15994946 20080414 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:5419 schizophrenia ISS RGD:11070 D RGD:13592920 20220113 MouseDO OMIM:181500 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:630 genetic disease ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12181311|PMID:25292412|PMID:25356970|PMID:25741868|PMID:28166811|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:679 basal ganglia disease ISO RGD:732897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:8946 severe nonproliferative diabetic retinopathy ISS RGD:11070 D RGD:13592920 20180518 MouseDO 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000099 Experimental Colitis treatment IEP D RGD:11080973|PMID:24115822 20160519 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000438 Subarachnoid Hemorrhage ameliorates IMP D RGD:125093745|PMID:29480757 20210330 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:7240710 20140903 OMIM 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 PMID:15054839|PMID:16199547|PMID:17576681|PMID:20301594|PMID:23255827|PMID:23731537|PMID:23731542|PMID:24796542|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:31064749|PMID:9536098 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:13703041|PMID:14593398 20180727 RGD mRNA,protein:increased expression: : 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:2292198|PMID:15994946 20080414 RGD associated with Carcinoma, Renal Cell 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000998 Brain Injuries IEP D RGD:11084932|PMID:9645955 20160601 RGD mRNA:increased expression:cerebral cortex, hippocampus 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:2292206|PMID:15077122 20080415 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15623374|PMID:18466260 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:10449503|PMID:18466260 20160108 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001600 Wounds and Injuries IEP D RGD:2292211|PMID:12533868 20080415 RGD protein:increased expression:skin 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002055 Chronic Allograft Nephropathy IEP D RGD:11080974|PMID:11889420 20160519 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:732897 D RGD:2311646|PMID:15067514 20090728 RGD associated with Diabetes Mellitus, Non-Insulin Dependent 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:13442504|PMID:28639748 20171106 RGD DNA:mutation:cds:c.1696T>C p.W566R(human) 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:7240710 20170503 OMIM 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kosaki overgrowth syndrome | ClinVar Annotator: match by term: SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25454926|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318|PMID:9536098 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002514 Neointima treatment IEP D RGD:11087557|PMID:9323080 20160602 RGD associated with Carotid Artery Injuries 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:732897 D RGD:2298578|PMID:15791568 20080711 RGD protein:increased expression:ovary 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:11080975|PMID:16042218 20160519 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002928 Colonic Neoplasms ISO RGD:11070 D RGD:2292176|PMID:17050049 20080411 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9003936 Cardiomegaly IEP D RGD:2292215|PMID:11973598 20080415 RGD associated with Hypertension;protein:increased expression:heart 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:7240710 20141015 OMIM 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:12181311|PMID:15054839|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732897 D RGD:2298578|PMID:15791568 20080711 RGD protein:increased expression:ovary 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004283 Transplant Rejection IMP D RGD:1625382|PMID:10458478 20160108 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732897 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:7240710 20171011 OMIM 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PENTTINEN SYNDROME | ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type PMID:15054839|PMID:16199547|PMID:17576681|PMID:23720404|PMID:23731537|PMID:23731542|PMID:25741868|PMID:26279204|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28492532|PMID:31017643|PMID:9056558|PMID:9536098 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005147 Hydatidiform Mole ISO RGD:732897 D RGD:2292200|PMID:8504434 20080415 RGD mRNA:increased expression:mononuclear cytotrophoblast cell 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:11070 D RGD:2292176|PMID:17050049 20080411 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005396 Intimal Hyperplasia treatment IMP D RGD:10449504|PMID:10982551 20160108 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311654|PMID:10802145 20090728 RGD protein:increased expression:glomerulus 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:8554477|PMID:10550325 20160520 RGD mRNA:increased expression:kidney 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:1580850|PMID:12819032 20080415 RGD 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007480 Hyperoxia IEP D RGD:1580851|PMID:15722379 20080414 RGD protein:increased expression:vascular associated smooth muscle cell 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:732897 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 PMID:25741868|PMID:28492532 3285 Pdgfrb platelet derived growth factor receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:11070 D RGD:2292176|PMID:17050049 20080411 RGD 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736556 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:736556 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:736556 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency IMP D RGD:13207454|PMID:20685142 20170801 RGD 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2378353 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:13207453|PMID:20002461 20170801 RGD DNA:mutations: :multiple 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:7240710 20130221 OMIM 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:731230|PMID:10679936 19990101 RGD DNA:mutations:multiple (human) 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:10679936|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:20002125|PMID:20002461|PMID:20691944|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:8962591 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3650 lactic acidosis ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2537010 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679936|PMID:10767328|PMID:10872106|PMID:12651851|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:19517265|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29970614|PMID:3034892|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:9671272 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:8398 osteoarthritis ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10486093|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:1338114|PMID:1508605|PMID:15384102|PMID:15473177|PMID:16199547|PMID:16713755|PMID:17043409|PMID:17172462|PMID:1770778|PMID:1779625|PMID:18023225|PMID:18197404|PMID:1907799|PMID:1909401|PMID:1909778|PMID:19639391|PMID:20002125|PMID:20002461|PMID:20591708|PMID:20691944|PMID:21846590|PMID:21914562|PMID:22142326|PMID:22473288|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25326635|PMID:25356417|PMID:25495354|PMID:25590979|PMID:25741868|PMID:25741876|PMID:26467025|PMID:26633542|PMID:26865159|PMID:26987331|PMID:27896109|PMID:2828359|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29882371|PMID:3034892|PMID:3137520|PMID:31673819|PMID:32005694|PMID:7573035|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8024267|PMID:8032855|PMID:8199595|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9266390|PMID:9618178|PMID:9671272|PMID:9686362 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736556 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29335542 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002994 Pyruvate Metabolism, Inborn Errors ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2378353 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736556 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:10679936|PMID:1301207|PMID:15384102|PMID:15473177|PMID:20002125|PMID:25590979|PMID:25741868|PMID:28492532|PMID:7887409 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20002125|PMID:20002461|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:8962591 3286 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3287 Padi1 peptidyl arginine deiminase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3287 Padi1 peptidyl arginine deiminase 1 gene DOID:630 genetic disease ISO RGD:1344006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3288 Padi2 peptidyl arginine deiminase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3288 Padi2 peptidyl arginine deiminase 2 gene DOID:0080600 COVID-19 ISO RGD:1348232 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3288 Padi2 peptidyl arginine deiminase 2 gene DOID:630 genetic disease ISO RGD:1348232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3288 Padi2 peptidyl arginine deiminase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348232 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 3288 Padi2 peptidyl arginine deiminase 2 gene DOID:9008037 Paragangliomas 4 ISO RGD:1348232 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:18057081 3288 Padi2 peptidyl arginine deiminase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348232 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:16258955|PMID:19351833|PMID:23666964|PMID:28492532 3289 Padi3 peptidyl arginine deiminase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3289 Padi3 peptidyl arginine deiminase 3 gene DOID:630 genetic disease ISO RGD:732756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3289 Padi3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:7240710 20220601 OMIM 3289 Padi3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 1 PMID:22381266|PMID:24629392|PMID:25741868|PMID:27866708|PMID:35279260 3289 Padi3 peptidyl arginine deiminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:732756 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism 3289 Padi3 peptidyl arginine deiminase 3 gene DOID:9007442 Central Centrifugal Cicatricial Alopecia ISO RGD:732756 D RGD:8554872 20190319 ClinVar ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia PMID:30763140 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348860 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:305 carcinoma ISO RGD:1348860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:630 genetic disease ISO RGD:1348860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1348860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1348860 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3290 Padi4 peptidyl arginine deiminase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0050328 congenital hypothyroidism ISO RGD:736428 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10700480|PMID:10874637|PMID:10902795|PMID:11317356|PMID:11502831|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12676893|PMID:12974744|PMID:14508505|PMID:14679580|PMID:15355436|PMID:15574297|PMID:15679828|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16711435|PMID:16924389|PMID:16950989|PMID:17309986|PMID:17443271|PMID:17576681|PMID:17718863|PMID:17766716|PMID:18167283|PMID:18285825|PMID:18641518|PMID:18813951|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19287372|PMID:19426954|PMID:19509082|PMID:19608655|PMID:19786220|PMID:20137612|PMID:20597900|PMID:20668687|PMID:20842945|PMID:21154317|PMID:21366435|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116360|PMID:22903915|PMID:23151025|PMID:23185506|PMID:23273637|PMID:23296490|PMID:23336812|PMID:23504402|PMID:23638949|PMID:23718755|PMID:23770805|PMID:23918157|PMID:23958391|PMID:23965030|PMID:24007330|PMID:24033266|PMID:24105851|PMID:24224479|PMID:24248179|PMID:24338212|PMID:24949729|PMID:25015771|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25741868|PMID:26100058|PMID:26226137|PMID:26252218|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:27541434|PMID:27573290|PMID:27771369|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28941661|PMID:28964290|PMID:29372807|PMID:30077349|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31581539|PMID:31599023|PMID:31700827|PMID:31971949|PMID:32417962|PMID:32447495|PMID:32747562|PMID:34170635|PMID:34599368|PMID:9398842|PMID:9536098|PMID:9618166|PMID:9618167 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10644529|PMID:17697873 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:7240710 20130221 OMIM 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:7421510|PMID:14508505 20131120 RGD DNA:mutations:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:7421514|PMID:15355436 20131120 RGD DNA:mutations:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11700190|PMID:11716048|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12920581|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15611902|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16275403|PMID:16283880|PMID:16460646|PMID:16482981|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17125574|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18075246|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19199245|PMID:19204907|PMID:19287372|PMID:19318451|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20137612|PMID:20146813|PMID:20301640|PMID:20483489|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24804242|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:25015771|PMID:25149764|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25358692|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25528277|PMID:25587757|PMID:25724631|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27068579|PMID:27090054|PMID:27214836|PMID:27240500|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27466889|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27863619|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30113565|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:32770655|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34545167|PMID:34599368|PMID:34801268|PMID:35802133|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167|PMID:9920104 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736429 D RGD:7411554|PMID:11152663 20131113 RGD 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:736428 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:12676893|PMID:19287372|PMID:24033266|PMID:25741868|PMID:28492532 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7240710 20130221 OMIM 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7411543|PMID:19509082 20131113 RGD DNA:missense mutations, insertions, snp:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7411671|PMID:18167283 20131118 RGD DNA:transition:intron:g.IVS7-2A>G (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7421508|PMID:11317356 20131120 RGD DNA:mutations:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:10190331|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18381613|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27214836|PMID:27246798|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27771369|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29546359|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32447495|PMID:32645618|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33597575|PMID:33614372|PMID:34171171|PMID:34545167|PMID:34599368|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23755160|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27090054|PMID:27214836|PMID:27246798|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34545167|PMID:34599368|PMID:34801268|PMID:35802133|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736429 D RGD:7411556|PMID:21965328 20131113 RGD 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:10763 hypertension ISO RGD:736429 D RGD:7411553|PMID:17120771 20131113 RGD 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:1599217|PMID:12974744 20070119 RGD DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:1459 hypothyroidism ISO RGD:736428 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736428 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11317356|PMID:12642503|PMID:14679580|PMID:15099345|PMID:15355436|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18285825|PMID:19017801|PMID:20597900|PMID:22285650|PMID:23336812|PMID:24033266|PMID:24224479|PMID:25372295|PMID:25394566|PMID:25741868|PMID:28492532 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736428 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:630 genetic disease ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9002802 Acidoses IEP D RGD:634144|PMID:12388388 20131120 RGD mRNA:decreased expression:renal cortex (rat) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9004538 Hearing Loss ISO RGD:736428 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:22116360|PMID:29320412 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9004538 Hearing Loss ISO RGD:736428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10700480|PMID:10861298|PMID:11317356|PMID:11375792|PMID:11932316|PMID:12354788|PMID:12788906|PMID:14679580|PMID:15279074|PMID:15355436|PMID:15679828|PMID:15689455|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:19017801|PMID:19204907|PMID:19509082|PMID:19787632|PMID:20301640|PMID:20553101|PMID:20597900|PMID:20842945|PMID:21045265|PMID:21551164|PMID:22717225|PMID:23185506|PMID:23208854|PMID:23273637|PMID:23336812|PMID:23401162|PMID:23555729|PMID:23804846|PMID:23918157|PMID:23965030|PMID:24033266|PMID:24156272|PMID:24224479|PMID:25290043|PMID:25372295|PMID:25373420|PMID:25741868|PMID:25788563|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:26969326|PMID:27771369|PMID:28273078|PMID:28492532|PMID:28964290|PMID:29196752|PMID:29546359|PMID:30068397|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30311386|PMID:31599023|PMID:31633822|PMID:32747562|PMID:33152970|PMID:34599368|PMID:9070918|PMID:9500541|PMID:9618166|PMID:9618167 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9005954 Mondini Dysplasia ISO RGD:736428 D RGD:7421508|PMID:11317356 20140523 RGD DNA:mutations:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9006380 Bilateral Hearing Loss ISO RGD:736428 D RGD:7411669|PMID:19645628 20131118 RGD associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:11062194|PMID:12676893 20070119 RGD DNA:mutations:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:1599215|PMID:16570074 20070119 RGD DNA:mutations:multiple (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:1599217|PMID:12974744 20070119 RGD DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:7411559|PMID:20128824 20131113 RGD DNA:missense mutation:cds:p.L445W (human) 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:7411562|PMID:23874234 20131113 RGD human gene in mouse model 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:11317356|PMID:28492532|PMID:29372807|PMID:30303587|PMID:34170635 3293 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736429 D RGD:7411670|PMID:17299139 20131118 RGD 329333019 SD-Spon2em1Holi strain DOID:9002514 Neointima IMP D RGD:329328927|PMID:25751394 20230427 RGD 329333021 Spon2em1Holi spondin 2; TALEN induced mutant1, Holi gene DOID:9002514 Neointima IMP D RGD:329328927|PMID:25751394 20230504 RGD 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:732310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0050777 Joubert syndrome ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732310 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:732310 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:12849 autistic disorder ISO RGD:732310 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:5082 liver cirrhosis ISO RGD:732310 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:1642378|PMID:7929120 20070913 RGD protein:decreased expression:liver 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642370|PMID:17116711 20070913 RGD protein:increased expression:liver 3297 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:1642369|PMID:17156888 20070913 RGD 3305 Pf4 platelet factor 4 gene DOID:0060903 thrombosis ISO RGD:735657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8282825|PMID:9446652|PMID:11588041|PMID:15795722 3305 Pf4 platelet factor 4 gene DOID:1205 allergic disease ISO RGD:735657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3305 Pf4 platelet factor 4 gene DOID:1588 thrombocytopenia ISO RGD:735657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8282825|PMID:9158107|PMID:9446652|PMID:10381515|PMID:11588041|PMID:15795722|PMID:20162249 3305 Pf4 platelet factor 4 gene DOID:417 autoimmune disease ISO RGD:735657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20162249 3305 Pf4 platelet factor 4 gene DOID:552 pneumonia ISO RGD:735657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3305 Pf4 platelet factor 4 gene DOID:630 genetic disease ISO RGD:735657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3305 Pf4 platelet factor 4 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 3307 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732809 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3307 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 3307 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:12849 autistic disorder ISO RGD:732809 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3307 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:2018 hyperinsulinism IEP D RGD:2302681|PMID:9705027 20090109 RGD associated with Obesity;protein:increased expression:liver 3307 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:630 genetic disease ISO RGD:732809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:12849 autistic disorder ISO RGD:69042 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69042 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:630 genetic disease ISO RGD:69042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3309 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69042 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3310 Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:630 genetic disease ISO RGD:1344643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3310 Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344643 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 3310 Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1344643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 3311 Pfkl phosphofructokinase, liver type gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:731398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 3311 Pfkl phosphofructokinase, liver type gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 3311 Pfkl phosphofructokinase, liver type gene DOID:0110266 cataract 9 multiple types ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 3311 Pfkl phosphofructokinase, liver type gene DOID:12849 autistic disorder ISO RGD:731398 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3311 Pfkl phosphofructokinase, liver type gene DOID:630 genetic disease ISO RGD:731398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3311 Pfkl phosphofructokinase, liver type gene DOID:891 progressive myoclonus epilepsy ISO RGD:731398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 3311 Pfkl phosphofructokinase, liver type gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731398 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3311 Pfkl phosphofructokinase, liver type gene DOID:9263 homocystinuria ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 3311 Pfkl phosphofructokinase, liver type gene DOID:9562 primary ciliary dyskinesia ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:299 adenocarcinoma ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:305 carcinoma ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:630 genetic disease ISO RGD:737211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3312 Pgam1 phosphoglycerate mutase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:0080108 myoglobinuria ISO RGD:68971 D RGD:1599129|PMID:8447317 20070117 RGD 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68971 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:630 genetic disease ISO RGD:68971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:68971 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:7240710 20130425 OMIM 3313 Pgam2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:6308514|PMID:8447317|PMID:9536098 3316 Pgm1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:7240710 20140813 OMIM 3316 Pgm1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV PMID:16199547|PMID:17576681|PMID:19625727|PMID:22492991|PMID:22976764|PMID:24499211|PMID:25288802|PMID:25741868|PMID:26768186|PMID:27206562|PMID:28117557|PMID:28492532|PMID:28617415|PMID:29858906|PMID:30122451|PMID:33342467|PMID:33413482|PMID:33473337|PMID:34782754|PMID:9536098 3316 Pgm1 phosphoglucomutase 1 gene DOID:1059 intellectual disability ISO RGD:734179 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 3316 Pgm1 phosphoglucomutase 1 gene DOID:1380 endometrial cancer ISO RGD:734179 D RGD:2299870|PMID:508567 20080818 RGD 3316 Pgm1 phosphoglucomutase 1 gene DOID:3307 teratoma ISO RGD:734179 D RGD:2299871|PMID:5259759 20080818 RGD 3316 Pgm1 phosphoglucomutase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:734179 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 3316 Pgm1 phosphoglucomutase 1 gene DOID:630 genetic disease ISO RGD:734179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24499211|PMID:25741868|PMID:28117557|PMID:28492532|PMID:30122451 3316 Pgm1 phosphoglucomutase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:734179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3316 Pgm1 phosphoglucomutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734179 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3316 Pgm1 phosphoglucomutase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734179 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 3317 Pgr progesterone receptor gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731081 D RGD:2289659|PMID:12628841 20080507 RGD 3317 Pgr progesterone receptor gene DOID:1059 intellectual disability ISO RGD:731081 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3317 Pgr progesterone receptor gene DOID:11612 polycystic ovary syndrome IEP D RGD:4145934|PMID:19698287 20130815 RGD protein:decreased expression:ovary: 3317 Pgr progesterone receptor gene DOID:127 leiomyoma no_association ISO RGD:731081 D RGD:1601278|PMID:15807882 20070412 RGD 3317 Pgr progesterone receptor gene DOID:12700 hyperprolactinemia susceptibility ISO RGD:731081 D RGD:1601278|PMID:15807882 20070412 RGD 3317 Pgr progesterone receptor gene DOID:12704 ataxia telangiectasia ISO RGD:731081 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 3317 Pgr progesterone receptor gene DOID:289 endometriosis IEP D RGD:7248704|PMID:21166214 20130815 RGD 3317 Pgr progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21232532 3317 Pgr progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:1601277|PMID:16126772 20070412 RGD 3317 Pgr progesterone receptor gene DOID:299 adenocarcinoma ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 3317 Pgr progesterone receptor gene DOID:305 carcinoma ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 3317 Pgr progesterone receptor gene DOID:3565 meningioma ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8008172|PMID:19731987|PMID:19747051 3317 Pgr progesterone receptor gene DOID:630 genetic disease ISO RGD:731081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3317 Pgr progesterone receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 3317 Pgr progesterone receptor gene DOID:9000998 Brain Injuries IEP D RGD:7248711|PMID:23211561 20130816 RGD 3317 Pgr progesterone receptor gene DOID:9002801 Recurrence ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 3317 Pgr progesterone receptor gene DOID:9003566 Mesothelioma ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 3317 Pgr progesterone receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 3317 Pgr progesterone receptor gene DOID:9006882 Progesterone Resistance ISO RGD:731081 D RGD:7240710 20141015 OMIM 3317 Pgr progesterone receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 3317 Pgr progesterone receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19436038|PMID:21501481 3317 Pgr progesterone receptor gene DOID:9970 obesity ISO RGD:731081 D RGD:1642050|PMID:14557830 20070829 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:0050848 obstructive sleep apnea IEP D RGD:4890033|PMID:19323616 20101214 RGD mRNA:increased expression:heart left ventricle 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:0050861 colorectal adenocarcinoma IDA D RGD:1598563|PMID:16619498 20061204 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:11040992|PMID:22112382 20160318 RGD mRNA:increased expression:liver (rat) 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:13413 hepatic encephalopathy IEP D RGD:10395388|PMID:24382264 20150904 RGD associated with Hypertension, Portal 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:13580 cholestasis IEP D RGD:1598589|PMID:11680581 20061206 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:1824 status epilepticus IEP D RGD:1358367|PMID:15380564 20061204 RGD mRNA:increased expression:dentate gyrus, posterior parahippocampal gyrus (rat) 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:1824 status epilepticus ISO RGD:1332185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14706787 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:1826 epilepsy IDA D RGD:1358367|PMID:15380564 19990101 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:2316 brain ischemia IEP D RGD:1598554|PMID:15049514 20061204 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:3070 high grade glioma IDA D RGD:1598564|PMID:16574265 20061204 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:3328 temporal lobe epilepsy IDA D RGD:1598560|PMID:16928449 20061204 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:3910 lung adenocarcinoma ISO RGD:1332185 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:526 human immunodeficiency virus infectious disease IDA D RGD:1598562|PMID:16790532 20061204 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:526 human immunodeficiency virus infectious disease IEP D RGD:11041168|PMID:24472536 20160323 RGD mRNA:decreased expression, increased expression:brain, kidney (rat) 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:783 end stage renal disease IDA D RGD:2301067|PMID:17135344 20061206 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:5684351|PMID:8104413 20061206 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1332185 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14633655 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1332185 D RGD:2315553|PMID:19654309 20100104 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1598559|PMID:17074306 20061204 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312730|PMID:17664251 20160921 RGD mRNA:increased expression:brain 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005643 Experimental Diabetes Mellitus disease_progression IEP D RGD:11041112|PMID:26460146 20160321 RGD mRNA:increased expression:ileum, intestinal mucosa (rat) 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005930 Endotoxemia IEP D RGD:1598596|PMID:9828229 20061206 RGD 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9005930 Endotoxemia ISO RGD:1332185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20300455 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9006205 Animal Disease Models ISO RGD:1332185 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9007188 Liver Neoplasms ISO RGD:1332185 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27193730 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1332185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27193730 3318 Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1332185 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14633655 3322 Phb1 prohibitin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 3322 Phb1 prohibitin 1 gene DOID:11054 urinary bladder cancer IEP D RGD:2292407|PMID:8062216 20080417 RGD mRNA:increased expression:urinary bladder 3322 Phb1 prohibitin 1 gene DOID:1612 breast cancer ISO RGD:736948 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:11377649|PMID:8809404 3322 Phb1 prohibitin 1 gene DOID:1612 breast cancer no_association ISO RGD:736948 D RGD:2292402|PMID:14652295 20080417 RGD DNA:polymorphism:3' utr:1703C>T 3322 Phb1 prohibitin 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736948 D RGD:2292405|PMID:11377649 20080417 RGD DNA:polymorphism:3' utr:1703C>T 3322 Phb1 prohibitin 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736948 D RGD:7240710 20230505 OMIM 3322 Phb1 prohibitin 1 gene DOID:2394 ovarian cancer ISO RGD:736948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 3322 Phb1 prohibitin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736948 D RGD:2292396|PMID:17465217 20080417 RGD protein:increased expression:urinary bladder 3322 Phb1 prohibitin 1 gene DOID:299 adenocarcinoma ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 3322 Phb1 prohibitin 1 gene DOID:305 carcinoma ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3322 Phb1 prohibitin 1 gene DOID:5419 schizophrenia ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 3322 Phb1 prohibitin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 3322 Phb1 prohibitin 1 gene DOID:8029 sporadic breast cancer ISO RGD:736948 D RGD:2292408|PMID:1540973 20080417 RGD DNA:loss of heterozygosity, mutations: :multiple 3322 Phb1 prohibitin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736948 D RGD:2292382|PMID:18384941 20080417 RGD mRNA, protein:increased expression:prostate gland 3322 Phb1 prohibitin 1 gene DOID:8646 substance-induced psychosis ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 3322 Phb1 prohibitin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736948 D RGD:2292398|PMID:16426920 20080417 RGD protein:increased expression:uterine cervix 3322 Phb1 prohibitin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 3322 Phb1 prohibitin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:21364753 3322 Phb1 prohibitin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3322 Phb1 prohibitin 1 gene DOID:9000784 Fibrosis ISO RGD:736948 D RGD:2292410|PMID:17043753 20080417 RGD associated with Glomerulonephritis;protein:decreased expression:kidney, epithelial cell 3322 Phb1 prohibitin 1 gene DOID:9000918 Disease Progression ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3322 Phb1 prohibitin 1 gene DOID:9000998 Brain Injuries IEP D RGD:2292409|PMID:17518533 20080417 RGD protein:increased oxidation:cerebral cortex 3322 Phb1 prohibitin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736948 D RGD:2292382|PMID:18384941 20080417 RGD mRNA, protein:increased expression:prostate gland 3322 Phb1 prohibitin 1 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:736948 D RGD:2292403|PMID:12821355 20080417 RGD DNA:polymorphism:3' utr:1703C>T 3322 Phb1 prohibitin 1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736948 D RGD:2292398|PMID:16426920 20080417 RGD protein:increased expression:uterine cervix 3322 Phb1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292404|PMID:12376462 20080417 RGD mRNA, protein:increased expression:mammary gland 3322 Phb1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3322 Phb1 prohibitin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736948 D RGD:2292406|PMID:10421803 20080417 RGD protein:increased expression:endometrium 3322 Phb1 prohibitin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736948 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050336 hypophosphatemia ISO RGD:733664 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:11097 D RGD:11556248|PMID:9063736 20161101 RGD DNA:deletions:3'UTR,promoter,exons: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:11097 D RGD:7207229|PMID:22573557 20161101 RGD DNA:mutation:exon:p.K496X(mouse) 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:11556246|PMID:7550339 20161101 RGD DNA:deletion,mutations:exon,splice junction: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:11556247|PMID:9106524 20161101 RGD DNA:mutations:cds,splice junction: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:7240710 20130221 OMIM 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked PMID:10439971|PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502821|PMID:11502829|PMID:12414858|PMID:12727977|PMID:14564066|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16303832|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18252791|PMID:18625346|PMID:188828|PMID:19219621|PMID:19513579|PMID:21050253|PMID:21902834|PMID:21994957|PMID:22101457|PMID:22261628|PMID:22527485|PMID:22577109|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24033266|PMID:24102521|PMID:24684036|PMID:24756041|PMID:24836714|PMID:24857004|PMID:24926462|PMID:25042154|PMID:25525159|PMID:25741868|PMID:25839938|PMID:2589938|PMID:26040324|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26543054|PMID:26894575|PMID:27840894|PMID:28492532|PMID:28506344|PMID:28981921|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29858904|PMID:30298485|PMID:30298486|PMID:30607568|PMID:30682568|PMID:30920082|PMID:31102713|PMID:31910300|PMID:32257293|PMID:32329911|PMID:33639975|PMID:33666701|PMID:3394683|PMID:34006472|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:36672821|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768646|PMID:9768674 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets PMID:10439971|PMID:14564066|PMID:14564077|PMID:16055933|PMID:19219621|PMID:21902834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32329911|PMID:9199930|PMID:9768674 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733664 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:10003 sensorineural hearing loss ISO RGD:11097 D RGD:11556244|PMID:15029877 20161101 RGD DNA:mutations:cds: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:1074 kidney failure IEP D RGD:11556273|PMID:14693675 20161102 RGD mRNA:increased expression:parathroid gland,tibia: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:10754 otitis media ISS RGD:11097 D RGD:13592920 20180518 MouseDO OMIM:166760 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:12679 nephrocalcinosis ISO RGD:733664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9430241 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:12849 autistic disorder ISO RGD:733664 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:630 genetic disease ISO RGD:733664 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10737991|PMID:25741868|PMID:28492532 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9000099 Experimental Colitis ISO RGD:11097 D RGD:11556253|PMID:16890604 20161101 RGD mRNA:decreased expression:bone: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9001197 Unilateral Deafness with Delayed Endolymphatic Hydrops ISO RGD:11097 D RGD:11556245|PMID:18289812 20161101 RGD DNA:mutation:cds: 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10737991|PMID:11004247|PMID:11468271|PMID:12414858|PMID:12727977|PMID:16199547|PMID:18162710|PMID:18625346|PMID:19219621|PMID:22261628|PMID:22695891|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25741868|PMID:26040324|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:35738466|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733664 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733664 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:3414685|PMID:9430241|PMID:11414762|PMID:18775977 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets PMID:11468271|PMID:12727977|PMID:18625346|PMID:24684036|PMID:25741868|PMID:28492532|PMID:29858904|PMID:9097956|PMID:9199930 3323 Phex phosphate regulating endopeptidase X-linked gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1962291 3325 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:0050724 PSPH deficiency ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 3325 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:12849 autistic disorder ISO RGD:731844 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3325 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731844 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3325 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:731844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3326 Serpina1 serpin family A member 1 gene DOID:0060186 chemical colitis treatment ISO RGD:1349357 D RGD:14695050|PMID:23835442 20190701 RGD 3326 Serpina1 serpin family A member 1 gene DOID:0060189 ileitis treatment ISO RGD:1349357 D RGD:14695050|PMID:23835442 20190701 RGD 3326 Serpina1 serpin family A member 1 gene DOID:0070313 thiamine deficiency disease ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 3326 Serpina1 serpin family A member 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 3326 Serpina1 serpin family A member 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349357 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 3326 Serpina1 serpin family A member 1 gene DOID:0080600 COVID-19 ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 3326 Serpina1 serpin family A member 1 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 3326 Serpina1 serpin family A member 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 3326 Serpina1 serpin family A member 1 gene DOID:10320 asbestosis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12368052 3326 Serpina1 serpin family A member 1 gene DOID:10591 pre-eclampsia ISO RGD:1349357 D RGD:1643155|PMID:1852102 20071205 RGD 3326 Serpina1 serpin family A member 1 gene DOID:10754 otitis media treatment ISO RGD:9014073 D RGD:9068941 20200609 RGD PMID:2459981|PMID:2473673|REF_RGD_ID:11553864|REF_RGD_ID:11553918 3326 Serpina1 serpin family A member 1 gene DOID:10763 hypertension ISO RGD:1349357 D RGD:1643147|PMID:10353322 20071205 RGD protein:increased expression:urine 3326 Serpina1 serpin family A member 1 gene DOID:1289 neurodegenerative disease ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 3326 Serpina1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3485249|PMID:17559149 3326 Serpina1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:14695047|PMID:18515255 20190701 RGD DNA:polymorphisms:cds: 3326 Serpina1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:7240710 20130221 OMIM 3326 Serpina1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI M(HEERLEN) | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(CARDIFF) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL) PMID:10194472|PMID:10234508|PMID:1082356|PMID:10878477|PMID:10954248|PMID:11214903|PMID:11334395|PMID:11474657|PMID:11524735|PMID:12034572|PMID:12220457|PMID:12935698|PMID:14522813|PMID:14551891|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15115878|PMID:15454649|PMID:15486938|PMID:1552539|PMID:1569192|PMID:15711957|PMID:15744045|PMID:15949707|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16199547|PMID:16608528|PMID:1730596|PMID:17576681|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18353624|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:1905728|PMID:19083091|PMID:19280649|PMID:19398551|PMID:19437508|PMID:19444872|PMID:19654085|PMID:1967187|PMID:1969347|PMID:19738092|PMID:1975477|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20453271|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21457231|PMID:21474916|PMID:21637596|PMID:21637600|PMID:21752289|PMID:2185272|PMID:21960536|PMID:22008137|PMID:22016686|PMID:22078084|PMID:22215832|PMID:2227940|PMID:2240842|PMID:22426792|PMID:2254451|PMID:22723858|PMID:22735536|PMID:22912357|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2309708|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2390072|PMID:23907436|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:2481421|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:2539391|PMID:25425243|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:2606478|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:2642408|PMID:26604020|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:2787118|PMID:27959697|PMID:2807278|PMID:28146470|PMID:2831367|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:3040726|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31307431|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:32482783|PMID:3257351|PMID:3262617|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3484755|PMID:3484756|PMID:3491072|PMID:3496639|PMID:3500183|PMID:3527273|PMID:3537008|PMID:3875547|PMID:412531|PMID:6093867|PMID:6306478|PMID:6602622|PMID:6604220|PMID:7045697|PMID:7227484|PMID:7706910|PMID:7977369|PMID:7980208|PMID:8182727|PMID:8340361|PMID:8358043|PMID:8364536|PMID:8364590|PMID:8499914|PMID:8520784|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9070606|PMID:9195389|PMID:9459000|PMID:9536098|PMID:9569237|PMID:9635295 3326 Serpina1 serpin family A member 1 gene DOID:13372 alpha 1-antitrypsin deficiency treatment ISO RGD:1349357 D RGD:14695049|PMID:29641323 20190701 RGD 3326 Serpina1 serpin family A member 1 gene DOID:13580 cholestasis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4117022 3326 Serpina1 serpin family A member 1 gene DOID:1485 cystic fibrosis ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10194472|PMID:1082356|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:18187064|PMID:18565211|PMID:18566672|PMID:1889260|PMID:19956452|PMID:20301692|PMID:20981092|PMID:22426792|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:26141072|PMID:26672964|PMID:26831755|PMID:27153395|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:6093867|PMID:6602622|PMID:8970361 3326 Serpina1 serpin family A member 1 gene DOID:1525 nodular nonsuppurative panniculitis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3259592|PMID:6982619 3326 Serpina1 serpin family A member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 3326 Serpina1 serpin family A member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349357 D RGD:2324960|PMID:2323846 20100517 RGD 3326 Serpina1 serpin family A member 1 gene DOID:2030 anxiety disorder ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 3326 Serpina1 serpin family A member 1 gene DOID:2349 arteriosclerosis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12692006 3326 Serpina1 serpin family A member 1 gene DOID:2349 arteriosclerosis disease_progression ISO RGD:1349357 D RGD:1643145|PMID:12692006 20071205 RGD DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human) 3326 Serpina1 serpin family A member 1 gene DOID:2841 asthma IEP D RGD:5131869|PMID:20118217 20110208 RGD Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats. 3326 Serpina1 serpin family A member 1 gene DOID:2913 acute pancreatitis IEP D RGD:11552763|PMID:26634430 20190702 RGD associated with fatty liver disease; protein:decreased expression:serum: 3326 Serpina1 serpin family A member 1 gene DOID:2913 acute pancreatitis ISO RGD:1349357 D RGD:11552763|PMID:26634430 20190702 RGD associated with fatty liver disease; protein:decreased expression:serum: 3326 Serpina1 serpin family A member 1 gene DOID:299 adenocarcinoma ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 3326 Serpina1 serpin family A member 1 gene DOID:3021 acute kidney failure ISO RGD:1349357 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3326 Serpina1 serpin family A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16278826|PMID:25579632 3326 Serpina1 serpin family A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349357 D RGD:4140387|PMID:20298391 20110208 RGD 3326 Serpina1 serpin family A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 3326 Serpina1 serpin family A member 1 gene DOID:3312 bipolar disorder ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 3326 Serpina1 serpin family A member 1 gene DOID:3393 coronary artery disease ISO RGD:1349357 D RGD:1643149|PMID:7832094 20071205 RGD protein:increased expression:serum 3326 Serpina1 serpin family A member 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349357 D RGD:2317811|PMID:12488200 20100517 RGD mRNA, protein:increased expression:pancreas 3326 Serpina1 serpin family A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:72955 3326 Serpina1 serpin family A member 1 gene DOID:409 liver disease ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3485248|PMID:4117996|PMID:5095241|PMID:6600583|PMID:17006946|PMID:17659342 3326 Serpina1 serpin family A member 1 gene DOID:409 liver disease ISO RGD:1349357 D RGD:4892128|PMID:19738092 20110208 RGD 3326 Serpina1 serpin family A member 1 gene DOID:409 liver disease susceptibility ISO RGD:1349357 D RGD:14695056|PMID:19961268 20190702 RGD DNA:polymorphism:cds:p.Glu342Lys(human) 3326 Serpina1 serpin family A member 1 gene DOID:446 primary hyperaldosteronism IEP D RGD:1643158|PMID:15475529 20071205 RGD 3326 Serpina1 serpin family A member 1 gene DOID:4989 pancreatitis IEP D RGD:1641805|PMID:12770935 20071211 RGD 3326 Serpina1 serpin family A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3485248|PMID:20511674|PMID:25579632 3326 Serpina1 serpin family A member 1 gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:14695525|PMID:20522742 20190705 RGD 3326 Serpina1 serpin family A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17448989 3326 Serpina1 serpin family A member 1 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1349357 D RGD:14695057|PMID:24122823 20190702 RGD DNA:polymorphism:cds:p.Glu264Val(human) 3326 Serpina1 serpin family A member 1 gene DOID:576 proteinuria IEP D RGD:1625796|PMID:11239198 20071211 RGD protein:increased expression:urine 3326 Serpina1 serpin family A member 1 gene DOID:630 genetic disease ISO RGD:1349357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10194472|PMID:10234508|PMID:1082356|PMID:12034572|PMID:14522813|PMID:14551891|PMID:14985567|PMID:15115878|PMID:15454649|PMID:1552539|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637596|PMID:21637600|PMID:21960536|PMID:22008137|PMID:22078084|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3491072|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 3326 Serpina1 serpin family A member 1 gene DOID:6432 pulmonary hypertension IDA D RGD:1643154|PMID:1836309 20071205 RGD 3326 Serpina1 serpin family A member 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349357 D RGD:1643144|PMID:17444595 20071205 RGD protein:decreased expression:serum 3326 Serpina1 serpin family A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6258829|PMID:21472284 3326 Serpina1 serpin family A member 1 gene DOID:8398 osteoarthritis IEP D RGD:2324964|PMID:20434574 20100518 RGD 3326 Serpina1 serpin family A member 1 gene DOID:850 lung disease ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 3326 Serpina1 serpin family A member 1 gene DOID:865 vasculitis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1684994 3326 Serpina1 serpin family A member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 3326 Serpina1 serpin family A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1349357 D RGD:14695046|PMID:28947017 20190701 RGD DNA:mutation:cds:c.321C>A(human) 3326 Serpina1 serpin family A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 3326 Serpina1 serpin family A member 1 gene DOID:9001205 Experimental Autoimmune Orchitis IEP D RGD:1624236|PMID:16092147 20071205 RGD protein:increased expression:serum 3326 Serpina1 serpin family A member 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:1626391|PMID:10569800 20071211 RGD 3326 Serpina1 serpin family A member 1 gene DOID:9002884 Emphysema ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25579632 3326 Serpina1 serpin family A member 1 gene DOID:9002884 Emphysema ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PI I | ClinVar Annotator: match by term: PI M(MINERAL SPRINGS) | ClinVar Annotator: match by term: PI M(PROCIDA) | ClinVar Annotator: match by term: PI S PMID:10194472|PMID:1082356|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18515255|PMID:18565211|PMID:18566672|PMID:1889260|PMID:1967187|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21752289|PMID:22426792|PMID:22912357|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:24713750|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:2606478|PMID:26141072|PMID:26647313|PMID:26672964|PMID:26831755|PMID:2696185|PMID:26987331|PMID:27153395|PMID:27296815|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:32482783|PMID:3262617|PMID:3496639|PMID:6093867|PMID:6602622|PMID:8970361|PMID:9635295 3326 Serpina1 serpin family A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:33144682|PMID:33726816|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 3326 Serpina1 serpin family A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 3326 Serpina1 serpin family A member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 3326 Serpina1 serpin family A member 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1349357 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 3326 Serpina1 serpin family A member 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1349357 D RGD:14695051|PMID:28235038 20190701 RGD 3326 Serpina1 serpin family A member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349357 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3326 Serpina1 serpin family A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349357 D RGD:1643148|PMID:10063411 20071205 RGD associated with Aortic Aneurysm, Abdominal;DNA:polymorphism: :p.E342K (human) 3326 Serpina1 serpin family A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:1643168|PMID:11140575 20071211 RGD protein:decreased expression:plasma 3326 Serpina1 serpin family A member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1349357 D RGD:14695048|PMID:20170533 20190701 RGD DNA:missense mutation:cds:p.E264V(human) 3326 Serpina1 serpin family A member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349357 D RGD:1601202|PMID:16752182 20071205 RGD 3326 Serpina1 serpin family A member 1 gene DOID:9007730 Burns IEP D RGD:1643164|PMID:12509927 20071211 RGD protein:increased expression:serum 3326 Serpina1 serpin family A member 1 gene DOID:9008217 Hemorrhage ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:412531 3326 Serpina1 serpin family A member 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:9014073 D RGD:9068941 20200609 RGD PMID:2454602|REF_RGD_ID:11560528 3326 Serpina1 serpin family A member 1 gene DOID:9256 colorectal cancer ISO RGD:1349357 D RGD:14695524|PMID:24886427 20190705 RGD protein:increased expression:serum 3326 Serpina1 serpin family A member 1 gene DOID:9563 bronchiectasis ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7785020 3326 Serpina1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3485249 3326 Serpina1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:4892125|PMID:19941265 20110208 RGD 3326 Serpina1 serpin family A member 1 gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:4892126|PMID:21030517 20110208 RGD 3326 Serpina1 serpin family A member 1 gene DOID:9993 hypoglycemia ISO RGD:1349357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 3328 Pigr polymeric immunoglobulin receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 3328 Pigr polymeric immunoglobulin receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 3328 Pigr polymeric immunoglobulin receptor gene DOID:12849 autistic disorder ISO RGD:737525 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3328 Pigr polymeric immunoglobulin receptor gene DOID:1540 parathyroid carcinoma ISO RGD:737525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3328 Pigr polymeric immunoglobulin receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:737525 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: IgA glomerulonephritis PMID:12740691|PMID:16282702 3328 Pigr polymeric immunoglobulin receptor gene DOID:630 genetic disease ISO RGD:737525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3328 Pigr polymeric immunoglobulin receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3328 Pigr polymeric immunoglobulin receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737525 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0080351 CLOVES syndrome ISO RGD:731958 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME PMID:25741868|PMID:34040190 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:7240710 20140903 OMIM 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive PMID:18414213|PMID:22351933|PMID:24033266|PMID:25133428|PMID:25741868|PMID:28492532 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:7240710 20141015 OMIM 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT syndrome PMID:10768093|PMID:11135494|PMID:12514365|PMID:16199547|PMID:17576681|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24088041|PMID:24459181|PMID:24728327|PMID:24886349|PMID:25133428|PMID:25157968|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26497935|PMID:26529633|PMID:26633545|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28143957|PMID:28302518|PMID:28492532|PMID:28632845|PMID:29051493|PMID:29178053|PMID:29636477|PMID:29740032|PMID:32499645|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420|PMID:9536098 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:7240710 20170201 OMIM 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 36 PMID:11135494|PMID:12514365|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer ISO RGD:731958 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731958 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10603 glucose intolerance ISO RGD:731958 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:33567340 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731958 D RGD:1625215|PMID:12185156 20070529 RGD DNA:polymorphism: :p.M326I (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10762 portal hypertension IDA D RGD:1625216|PMID:11826414 20070529 RGD protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension IEP D RGD:4108492|PMID:18300869 20100726 RGD protein:decreased expression:ventricular myocyte (rat) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension IMP D RGD:4108483|PMID:19015400 20100722 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:12306 vitiligo ISO RGD:731958 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1380 endometrial cancer ISO RGD:731958 D RGD:13674179|PMID:21984976 20180711 RGD DNA:mutations:multiple (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14179 X-linked agammaglobulinemia ISS RGD:11103 D RGD:13592920 20180518 MouseDO OMIM:300310 | OMIM:300755 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:19962457|PMID:22351933|PMID:24459181|PMID:25133428|PMID:25157968|PMID:26619011|PMID:28104464|PMID:28492532|PMID:29051493 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1909 melanoma ISO RGD:731958 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:731958 D RGD:13441595|PMID:21478295 20180816 RGD DNA:mutations:multiple (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2871 endometrial carcinoma ISO RGD:731958 D RGD:13628733|PMID:23636398 20180620 RGD DNA:mutations:multiple (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:305 carcinoma ISO RGD:731958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3068 glioblastoma ISO RGD:731958 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19962457|PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:363 uterine cancer ISO RGD:731958 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731958 D RGD:13464334|PMID:26695082 20180110 RGD mRNA:decreased expression:lung 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731958 D RGD:13504823|PMID:25757764 20180126 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:731958 D RGD:13825123|PMID:28280736 20181114 RGD DNA:SNPs: :rs3756668,rs12755(human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:22351933|PMID:25133428|PMID:25488983|PMID:25741868|PMID:25939554|PMID:27076228|PMID:27116393|PMID:27693481|PMID:28302518|PMID:28492532|PMID:32499645 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:731958 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:19962457|PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11135494|PMID:12514365|PMID:18384141|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:151893509|PMID:31801250 20220422 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731958 D RGD:152177908|PMID:31472145 20220519 RGD mRNA:increased expression:cartilage tissue (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma ISO RGD:731958 D RGD:11343921|PMID:26956052 20180816 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma severity ISO RGD:731958 D RGD:13782052|PMID:26286747 20180816 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8398 osteoarthritis ISO RGD:731958 D RGD:152177908|PMID:31472145 20220519 RGD mRNA:increased expression:cartilage tissue (human) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8584 Burkitt lymphoma ISO RGD:731958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8923 skin melanoma ISO RGD:731958 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:19962457|PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731958 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167|PMID:33129824 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731958 D RGD:2290476|PMID:16847462 20080313 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731958 D RGD:2290476|PMID:16847462 20080313 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002992 Nematode Infections susceptibility ISO RGD:11103 D RGD:737789|PMID:11850627 19990101 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4108481|PMID:19100383 20100721 RGD proetin:decreased dimerization:skeletal muscle (rat) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731958 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2307338|PMID:18430054 20100726 RGD protein:increased expression:gastrocnemius (rat) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:11103 D RGD:737789|PMID:11850627 19990101 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007502 Brain Neoplasms ISO RGD:731958 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:19962457|PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance IDA D RGD:1625262|PMID:10426374 20070531 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:11103 D RGD:1625211|PMID:17283057 20070529 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:1625212|PMID:16332940 20070529 RGD associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731958 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25157968|PMID:26619011 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:11103 D RGD:4108502|PMID:17699716 20100727 RGD mRNA:increased expression:mammary tumor (mouse) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9256 colorectal cancer ISO RGD:731958 D RGD:13432046|PMID:21978709 20170914 RGD 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9256 colorectal cancer ISO RGD:731958 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4108490|PMID:18443201 20100726 RGD protein:increased phosphorylation:retina (rat) 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731958 D RGD:11067972|PMID:14551916 20180216 RGD DNA:polymorphism: : 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity IEP D RGD:1625220|PMID:16123202 20070529 RGD protein:decreased expression:soleus 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:11103 D RGD:1625218|PMID:9399964 20070529 RGD protein:decreased tyrosine phosphorylation:skeletal muscle, liver 3329 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9993 hypoglycemia ISO RGD:11103 D RGD:737788|PMID:9988280 19990101 RGD 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:737516 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:737516 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:11400 pyelonephritis ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3042 allergic contact dermatitis ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23724780 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9006205 Animal Disease Models ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 3330 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 3331 Pitx2 paired-like homeodomain 2 gene DOID:0050647 Arts syndrome ISO RGD:731390 D RGD:12910562|PMID:17701896 20170620 RGD DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) 3331 Pitx2 paired-like homeodomain 2 gene DOID:0050786 iridogoniodysgenesis syndrome ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome PMID:25741868|PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:0060224 atrial fibrillation ISO RGD:731390 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 3331 Pitx2 paired-like homeodomain 2 gene DOID:0060648 anterior segment dysgenesis ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:15591271|PMID:25741868|PMID:32499604|PMID:35882526|PMID:7581385|PMID:9437321 3331 Pitx2 paired-like homeodomain 2 gene DOID:0060673 Peters anomaly ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:10502778 3331 Pitx2 paired-like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:7240710 20131030 OMIM 3331 Pitx2 paired-like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant PMID:25741868|PMID:28492532|PMID:32499604|PMID:7581385|PMID:8942889|PMID:9437321|PMID:9618168 3331 Pitx2 paired-like homeodomain 2 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10502778|PMID:10644443|PMID:14623826|PMID:14630904|PMID:15378534 3331 Pitx2 paired-like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:7240710 20130221 OMIM 3331 Pitx2 paired-like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:10051017|PMID:10490637|PMID:11301317|PMID:11487566|PMID:12130547|PMID:12381896|PMID:12612071|PMID:15378534|PMID:15591271|PMID:15728254|PMID:15895993|PMID:16389592|PMID:16498627|PMID:16936096|PMID:17167399|PMID:17576681|PMID:18045789|PMID:18723525|PMID:19052653|PMID:19218601|PMID:19513095|PMID:20881294|PMID:22224469|PMID:22569110|PMID:24604414|PMID:25741868|PMID:26220699|PMID:28492532|PMID:28611552|PMID:28730073|PMID:29100920|PMID:29506241|PMID:30457409|PMID:31529555|PMID:32499604|PMID:33304895|PMID:33492563|PMID:35882526|PMID:8944018|PMID:9536098|PMID:9685346 3331 Pitx2 paired-like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:7240710 20130221 OMIM 3331 Pitx2 paired-like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ring dermoid of cornea PMID:15378534|PMID:15591271|PMID:25741868|PMID:26220699|PMID:28492532|PMID:32499604|PMID:35882526 3331 Pitx2 paired-like homeodomain 2 gene DOID:10283 prostate cancer ISO RGD:731390 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3331 Pitx2 paired-like homeodomain 2 gene DOID:1459 hypothyroidism IEP D RGD:5131997|PMID:17982271 20110517 RGD mRNA, protein:decreased expression:ovary, granulosa cell 3331 Pitx2 paired-like homeodomain 2 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:731390 D RGD:12910558|PMID:19052653 20170620 RGD DNA:point mutation:exon:p.W86C (c.840G>T) (human) 3331 Pitx2 paired-like homeodomain 2 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:731390 D RGD:12910560|PMID:16876867 20170620 RGD DNA:missense mutation: :p.G137V (g.20913G>T) (human) 3331 Pitx2 paired-like homeodomain 2 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:731390 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomaly PMID:25741868 3331 Pitx2 paired-like homeodomain 2 gene DOID:1681 heart septal defect ISO RGD:731391 D RGD:12910561|PMID:23361844 20170620 RGD 3331 Pitx2 paired-like homeodomain 2 gene DOID:1682 congenital heart disease ISO RGD:731390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 3331 Pitx2 paired-like homeodomain 2 gene DOID:1686 glaucoma ISS RGD:731391 D RGD:13592920 20190207 MouseDO 3331 Pitx2 paired-like homeodomain 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731390 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 3331 Pitx2 paired-like homeodomain 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 3331 Pitx2 paired-like homeodomain 2 gene DOID:630 genetic disease ISO RGD:731390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15895993|PMID:25741868|PMID:28492532|PMID:35882526|PMID:8944018 3331 Pitx2 paired-like homeodomain 2 gene DOID:674 cleft palate ISO RGD:731391 D RGD:12910559|PMID:12975342 20170620 RGD 3331 Pitx2 paired-like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28166811|PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:898 autosomal dominant polycystic kidney disease IEP D RGD:5131995|PMID:20926632 20110517 RGD mRNA:increased expression:kidney 3331 Pitx2 paired-like homeodomain 2 gene DOID:9000045 De Hauwere syndrome ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 3331 Pitx2 paired-like homeodomain 2 gene DOID:9005162 Familial Atrial Fibrillation 1 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ATFB1 PMID:28492532 3331 Pitx2 paired-like homeodomain 2 gene DOID:9007096 Stroke ISO RGD:731390 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 3331 Pitx2 paired-like homeodomain 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10499585|PMID:14623826 3331 Pitx2 paired-like homeodomain 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:731390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 3332 Pitx3 paired-like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:11535067|PMID:18989383 20160920 RGD DNA:insertion:exon:c.657ins17bp 3332 Pitx3 paired-like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9620774|PMID:18989383 3332 Pitx3 paired-like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:7240710 20190327 OMIM 3332 Pitx3 paired-like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 3332 Pitx3 paired-like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15286169 3332 Pitx3 paired-like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:7240710 20130221 OMIM 3332 Pitx3 paired-like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 3332 Pitx3 paired-like homeodomain 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732297 D RGD:737764|PMID:9620774 19990101 RGD DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) 3332 Pitx3 paired-like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:732297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 3332 Pitx3 paired-like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:736766 D RGD:11535071|PMID:25347445 20160920 RGD DNA:nonsense mutation:cl444C>A(mouse) 3332 Pitx3 paired-like homeodomain 3 gene DOID:14330 Parkinson's disease ISS RGD:736766 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 3332 Pitx3 paired-like homeodomain 3 gene DOID:14330 Parkinson's disease model ISO RGD:736766 D RGD:11535079|PMID:18573342 20160920 RGD 3332 Pitx3 paired-like homeodomain 3 gene DOID:630 genetic disease ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3332 Pitx3 paired-like homeodomain 3 gene DOID:83 cataract ISO RGD:732297 D RGD:11535076|PMID:15665340 20160920 RGD DNA:insertion:exon:c.657ins17bp 3332 Pitx3 paired-like homeodomain 3 gene DOID:83 cataract ISO RGD:732297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9620774|PMID:16565358 3332 Pitx3 paired-like homeodomain 3 gene DOID:83 cataract ISO RGD:732297 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 3332 Pitx3 paired-like homeodomain 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732297 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 3332 Pitx3 paired-like homeodomain 3 gene DOID:9003814 Neurologic Manifestations ISO RGD:732297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 3332 Pitx3 paired-like homeodomain 3 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732297 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 3332 Pitx3 paired-like homeodomain 3 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:732297 D RGD:11535073|PMID:16565358 20160920 RGD DNA:deletion:exon:c.650delG(human) 3332 Pitx3 paired-like homeodomain 3 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:732297 D RGD:8554872 20160614 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 3332 Pitx3 paired-like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:11535071|PMID:25347445 20160920 RGD DNA:nonsense mutation:cl444C>A(mouse) 3332 Pitx3 paired-like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:11535075|PMID:11247667 20160920 RGD DNA:deletions:promoter, cds: 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0050770 polycystic liver disease ISO RGD:11105 D RGD:14402035|PMID:9988265 20190523 RGD 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0050770 polycystic liver disease severity ISO RGD:11105 D RGD:14402033|PMID:21685914 20190523 RGD 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:736706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease IAGP D RGD:633540|PMID:11913782 19990101 RGD 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:17932118|PMID:25877301|PMID:28887310 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34906502|PMID:35368817|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18381613|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26940125|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30586318|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34906502|PMID:35368817|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:11112665|PMID:15024740|PMID:15874888|PMID:16114042|PMID:17287951|PMID:17304050|PMID:21309039|PMID:21520333|PMID:22903760|PMID:24789117|PMID:25741868|PMID:27406250|PMID:28492532|PMID:29432982|PMID:9829910 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736706 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:7240710 20180725 OMIM 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 1 PMID:10364515|PMID:10854095|PMID:11115377|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:21115670|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24374109|PMID:24694054|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26950445|PMID:27499327|PMID:27835667|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110860 polycystic kidney disease 3 ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 PMID:10364515|PMID:10854095|PMID:15772804|PMID:17582161|PMID:21115670|PMID:21694639|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23431072|PMID:24374109|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:27499327|PMID:27835667|PMID:30333007|PMID:30847201|PMID:31317121|PMID:31730820|PMID:31740684|PMID:33532864 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736706 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:26467025|PMID:29100090 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:11105 D RGD:13592920 20180518 MouseDO OMIM:263200 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:1074 kidney failure ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal failure 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:10763 hypertension ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11115377|PMID:12482949|PMID:16430766|PMID:17574468|PMID:17582161|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24694054|PMID:25333066|PMID:25741868|PMID:26467025|PMID:26632257|PMID:26950445|PMID:27499327|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:736706 D RGD:1580867|PMID:12842373 19990101 RGD DNA:mutations:multiple (human) 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:11836 clubfoot ISO RGD:736706 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:11105 D RGD:13592920 20180518 MouseDO 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:12215 oligohydramnios ISO RGD:736706 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:13515 tuberous sclerosis ISO RGD:736706 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:1826 epilepsy ISO RGD:736706 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736706 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:2871 endometrial carcinoma ISO RGD:736706 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:2975 cystic kidney disease ISO RGD:736706 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:11115377|PMID:11967008|PMID:19515475|PMID:22508176|PMID:25741868|PMID:26467025 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:4606 bile duct cancer ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:12007219|PMID:16430766|PMID:17574468|PMID:25741868|PMID:26467025|PMID:27782177 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:519 aortitis ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Large vessel vasculitis 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:576 proteinuria ISO RGD:736706 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:736706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11012875|PMID:11115377|PMID:11857740|PMID:12842373|PMID:1740684|PMID:17574468|PMID:17582161|PMID:19165178|PMID:20950398|PMID:22383692|PMID:22508176|PMID:23300259|PMID:23431072|PMID:23985799|PMID:24374109|PMID:24582653|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25491204|PMID:25646624|PMID:25741868|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26795593|PMID:27165007|PMID:27499327|PMID:28378423|PMID:29801666|PMID:30333007|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31514750|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32398770|PMID:32457805|PMID:33226606|PMID:33532864|PMID:33639313|PMID:9345095 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:783 end stage renal disease ISO RGD:736706 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:784 chronic kidney disease ISO RGD:736706 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:7581371|PMID:8004675|PMID:12089381|PMID:19401297|PMID:25877301|PMID:28887310 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:1601399|PMID:8554072 20070419 RGD DNA:mutations:exons, intron:multiple 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:7175279|PMID:21115670 20121129 RGD DNA:mutations:multiple 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10200984|PMID:10364515|PMID:10854095|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:24033266|PMID:24374109|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26950445|PMID:27499327|PMID:27567292|PMID:27835667|PMID:27884173|PMID:27894351|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:32203225|PMID:32457805|PMID:33168999|PMID:33532864|PMID:9521593 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:10200984|PMID:10364515|PMID:10854095|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22333914|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26823553|PMID:26950445|PMID:27165007|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27835667|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29270497|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:31740684|PMID:32203225|PMID:32381729|PMID:32457805|PMID:33168999|PMID:33532864|PMID:9285784|PMID:9521593 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease severity ISO RGD:11105 D RGD:7175280|PMID:23064367 20121129 RGD DNA:missense mutation:cds:p.R3277C (mouse) 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:17582161|PMID:21744088|PMID:22185115|PMID:25263802|PMID:25333066|PMID:25741868|PMID:26467025|PMID:31844813|PMID:33532864|PMID:9668165 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9006205 Animal Disease Models ISO RGD:736706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9006554 Pancreatic Cyst ISO RGD:736706 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Pancreatic cysts PMID:25741868 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9007583 Cysts ISO RGD:736706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 3333 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9256 colorectal cancer ISO RGD:736706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050545 visceral heterotaxy ISS RGD:1622226 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease IAGP D RGD:11534987|PMID:16207829 20160919 RGD 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease IAGP D RGD:1300446|PMID:7933831 20210211 RGD 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease IMP D RGD:7207426|PMID:21119215 20170412 RGD DNA:mutation:cds:p.R823W(rat) 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:7240710 20140911 OMIM 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 16 PMID:17576681|PMID:23793029|PMID:24610927|PMID:25599650|PMID:25741868|PMID:28492532|PMID:9536098 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1319654 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:12712 nephronophthisis ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:2975 cystic kidney disease ISO RGD:1319654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:4676 uremia IAGP D RGD:1300446|PMID:7933831 20210211 RGD 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:5082 liver cirrhosis ISO RGD:1319654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:576 proteinuria IAGP D RGD:1300446|PMID:7933831 20210211 RGD 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:630 genetic disease ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:758 situs inversus ISO RGD:1319654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319654 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 3334 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 3335 Pkib cAMP-dependent protein kinase inhibitor beta gene DOID:1826 epilepsy ISO RGD:736855 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3335 Pkib cAMP-dependent protein kinase inhibitor beta gene DOID:630 genetic disease ISO RGD:736855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3336 Pklr pyruvate kinase L/R gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 3336 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:11113 D RGD:11537470|PMID:7579416 20161005 RGD DNA:missense mutation:cds:p.G338D (mouse) 3336 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:11113|RGD:737364 D RGD:11535996|PMID:19755962 20160928 RGD human gene complementing mouse knockout 3336 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:11537382|PMID:16704447 20161003 RGD associated with Anemia, Hemolytic;DNA:mutations:multiple (human) 3336 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:7240710 20130221 OMIM 3336 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11698298|PMID:11960989|PMID:12393511|PMID:14014643|PMID:14255553|PMID:1536957|PMID:15491302|PMID:15953013|PMID:15982340|PMID:16704447|PMID:1670447|PMID:17360088|PMID:17574881|PMID:17576681|PMID:18172691|PMID:18420493|PMID:18683378|PMID:18759866|PMID:1896471|PMID:19085939|PMID:1937486|PMID:19758413|PMID:2018831|PMID:21815188|PMID:21833022|PMID:23082140|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29396846|PMID:29519373|PMID:30332465|PMID:32043619|PMID:32974842|PMID:34008892|PMID:7655861|PMID:7702630|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8161798|PMID:8180378|PMID:8483951|PMID:9057665|PMID:9166866|PMID:9389718|PMID:9482576|PMID:9536098|PMID:9657767|PMID:9827908|PMID:9886305 3336 Pklr pyruvate kinase L/R gene DOID:0111940 immunodeficiency 42 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3336 Pklr pyruvate kinase L/R gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3336 Pklr pyruvate kinase L/R gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3336 Pklr pyruvate kinase L/R gene DOID:12365 malaria ISS RGD:11113 D RGD:13592920 20180518 MouseDO OMIM:609148 | OMIM:611162 3336 Pklr pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:11113 D RGD:11537407|PMID:14595440 20161004 RGD DNA:missense mutation:cds:p.I90N (mouse) 3336 Pklr pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:737364 D RGD:11535999|PMID:20377593 20160928 RGD DNA:mutations, haplotype:multiple (human) 3336 Pklr pyruvate kinase L/R gene DOID:1540 parathyroid carcinoma ISO RGD:737364 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3336 Pklr pyruvate kinase L/R gene DOID:1926 Gaucher's disease ISO RGD:737364 D RGD:11535995|PMID:9677056 20160928 RGD DNA:repeats:intron:IVS11+?(ATT)5 (human) 3336 Pklr pyruvate kinase L/R gene DOID:2018 hyperinsulinism ISO RGD:11113 D RGD:1625581|PMID:14766002 20070614 RGD mRNA:increased expression:liver 3336 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:11535979|PMID:7949104 20160927 RGD DNA:missense mutations:cds:p.A468V, p.I314T (human) 3336 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:11535981|PMID:1536957 20160927 RGD DNA:missense mutations:cds:p.T384M, p.Q421K (human) 3336 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:11535983|PMID:8161798 20160927 RGD DNA:missense mutation:cds:p.R479H (human) 3336 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:11535987|PMID:11054094 20160927 RGD DNA:snp:promoter:g.-72A>G (human) 3336 Pklr pyruvate kinase L/R gene DOID:4195 hyperglycemia IEP D RGD:1625587|PMID:8605225 20070614 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver 3336 Pklr pyruvate kinase L/R gene DOID:5812 MHC class II deficiency ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3336 Pklr pyruvate kinase L/R gene DOID:583 hemolytic anemia ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:28492532|PMID:32581362|PMID:9827908 3336 Pklr pyruvate kinase L/R gene DOID:630 genetic disease ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3336 Pklr pyruvate kinase L/R gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737364 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3336 Pklr pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:7240710 20130221 OMIM 3336 Pklr pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate kinase hyperactivity PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11960989|PMID:15953013|PMID:15982340|PMID:16704447|PMID:17360088|PMID:17574881|PMID:18759866|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29519373|PMID:30332465|PMID:32974842|PMID:4160306|PMID:7655861|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8483951|PMID:8664896|PMID:9057665|PMID:9482576|PMID:9657767|PMID:9827908 3336 Pklr pyruvate kinase L/R gene DOID:9004009 Reperfusion Injury IEP D RGD:1625588|PMID:17013507 20070614 RGD 3336 Pklr pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625589|PMID:16900249 20070614 RGD 3336 Pklr pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737364 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 3336 Pklr pyruvate kinase L/R gene DOID:9007692 Insulin Resistance ISO RGD:11113 D RGD:1625583|PMID:12958186 20070614 RGD mRNA, protein:decreased expression:liver 3336 Pklr pyruvate kinase L/R gene DOID:9007730 Burns IDA D RGD:1625591|PMID:12417155 20070614 RGD 3336 Pklr pyruvate kinase L/R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737364 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3336 Pklr pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737364 D RGD:13506802|PMID:19111066 20180216 RGD DNA:SNP: :rs3020781(human) 3336 Pklr pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737364 D RGD:13506801|PMID:12196482 20180216 RGD DNA:SNPs:introns,exons: 3336 Pklr pyruvate kinase L/R gene DOID:9970 obesity ISO RGD:11113 D RGD:1625583|PMID:12958186 20070614 RGD mRNA, protein:decreased expression:liver 3337 Pkm pyruvate kinase M1/2 gene DOID:0080600 COVID-19 ISO RGD:737501 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3337 Pkm pyruvate kinase M1/2 gene DOID:11476 osteoporosis ISO RGD:737501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 3337 Pkm pyruvate kinase M1/2 gene DOID:2717 Bloom syndrome ISO RGD:737501 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3337 Pkm pyruvate kinase M1/2 gene DOID:305 carcinoma ISO RGD:737501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3337 Pkm pyruvate kinase M1/2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737501 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32078667 3337 Pkm pyruvate kinase M1/2 gene DOID:3320 Tay-Sachs disease ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 3337 Pkm pyruvate kinase M1/2 gene DOID:630 genetic disease ISO RGD:737501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3337 Pkm pyruvate kinase M1/2 gene DOID:684 hepatocellular carcinoma ISO RGD:737501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 3337 Pkm pyruvate kinase M1/2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3337 Pkm pyruvate kinase M1/2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980|PMID:15654357 3337 Pkm pyruvate kinase M1/2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3337 Pkm pyruvate kinase M1/2 gene DOID:9256 colorectal cancer ISO RGD:737501 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3340 Pla2g2c phospholipase A2, group IIC gene DOID:0060369 Parkinson's disease 6 ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 3340 Pla2g2c phospholipase A2, group IIC gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3340 Pla2g2c phospholipase A2, group IIC gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1349993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 3340 Pla2g2c phospholipase A2, group IIC gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 3340 Pla2g2c phospholipase A2, group IIC gene DOID:630 genetic disease ISO RGD:1349993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3340 Pla2g2c phospholipase A2, group IIC gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 3342 Plat plasminogen activator, tissue type gene DOID:0060046 aphasia ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12690208 3342 Plat plasminogen activator, tissue type gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736468 D RGD:11541060|PMID:10861807 20161006 RGD protein:increased expression:leukocyte (human) 3342 Plat plasminogen activator, tissue type gene DOID:0060573 von Willebrand's disease 1 treatment ISO RGD:736468 D RGD:11552591|PMID:1419807 20161012 RGD 3342 Plat plasminogen activator, tissue type gene DOID:0060903 thrombosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2123154|PMID:12677255|PMID:19348381|PMID:22352330 3342 Plat plasminogen activator, tissue type gene DOID:0090039 torsion dystonia 6 ISO RGD:736468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 3342 Plat plasminogen activator, tissue type gene DOID:0111959 immunodeficiency 15B ISO RGD:736468 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 3342 Plat plasminogen activator, tissue type gene DOID:10554 meningoencephalitis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1430592 3342 Plat plasminogen activator, tissue type gene DOID:10763 hypertension ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 3342 Plat plasminogen activator, tissue type gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:736468 D RGD:11541055|PMID:9543574 20161006 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:11162 respiratory failure ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25331496 3342 Plat plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation ISO RGD:736468 D RGD:11541052|PMID:23726093 20161006 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation treatment IDA D RGD:11541087|PMID:1425827 20161007 RGD associated with Jaundice, Obstructive 3342 Plat plasminogen activator, tissue type gene DOID:11446 sciatic neuropathy IEP D RGD:6483827|PMID:18716863 20120604 RGD 3342 Plat plasminogen activator, tissue type gene DOID:115 cardiac tamponade ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 3342 Plat plasminogen activator, tissue type gene DOID:11713 diabetic angiopathy ISO RGD:736468 D RGD:2311663|PMID:18945481 20090729 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3342 Plat plasminogen activator, tissue type gene DOID:11714 gestational diabetes ISO RGD:736468 D RGD:2311668|PMID:17259140 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:118 pericardial effusion ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 3342 Plat plasminogen activator, tissue type gene DOID:11847 coronary thrombosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1452937|PMID:8172379|PMID:15301905 3342 Plat plasminogen activator, tissue type gene DOID:12134 factor VIII deficiency treatment ISO RGD:736468 D RGD:11552591|PMID:1419807 20161012 RGD 3342 Plat plasminogen activator, tissue type gene DOID:1247 blood coagulation disease ISO RGD:736468 D RGD:11541080|PMID:1420814 20161007 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:12554 hemolytic-uremic syndrome ISO RGD:736468 D RGD:11541069|PMID:11777999 20161006 RGD associated with Escherichia coli Infections;protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:13100 intracranial vasospasm ISO RGD:736468 D RGD:11554173 20200114 CTD CTD Direct Evidence: therapeutic PMID:19057314|PMID:29651748 3342 Plat plasminogen activator, tissue type gene DOID:1461 cholesterol embolism ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7939511 3342 Plat plasminogen activator, tissue type gene DOID:1558 angioedema ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16184341|PMID:18453163|PMID:20547619 3342 Plat plasminogen activator, tissue type gene DOID:1824 status epilepticus IDA D RGD:6484215|PMID:17040480 20120613 RGD 3342 Plat plasminogen activator, tissue type gene DOID:1936 atherosclerosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12677255 3342 Plat plasminogen activator, tissue type gene DOID:2213 hemorrhagic disease ISO RGD:736468 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 3342 Plat plasminogen activator, tissue type gene DOID:224 transient cerebral ischemia IEP D RGD:1580875|PMID:15882815 19990101 RGD Protein:increased expression, increased activity:hippocampus (rat) 3342 Plat plasminogen activator, tissue type gene DOID:2316 brain ischemia ISO RGD:736468 D RGD:11554173 20200114 CTD CTD Direct Evidence: therapeutic PMID:7477192|PMID:9259745|PMID:9400355|PMID:9479658|PMID:9566367|PMID:9633741|PMID:10572812|PMID:11108748|PMID:11940547|PMID:12221155|PMID:12511774|PMID:14986460|PMID:15017018|PMID:15087567|PMID:16126134|PMID:16763187|PMID:16809570|PMID:17086147|PMID:17525387|PMID:17903870|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:21037505|PMID:23876515 3342 Plat plasminogen activator, tissue type gene DOID:2316 brain ischemia no_association ISO RGD:736468 D RGD:1580879|PMID:16179568 20070419 RGD DNA:polymorphism:-7351C>T (human) 3342 Plat plasminogen activator, tissue type gene DOID:2945 severe acute respiratory syndrome ISO RGD:736468 D RGD:30309949|PMID:16274108 20200622 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:2988 antiphospholipid syndrome ISO RGD:736468 D RGD:1580877|PMID:16320350 19990101 RGD 3342 Plat plasminogen activator, tissue type gene DOID:3021 acute kidney failure ISO RGD:736468 D RGD:11541071|PMID:9767551 20161006 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:3042 allergic contact dermatitis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 3342 Plat plasminogen activator, tissue type gene DOID:3454 brain infarction ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16190367 3342 Plat plasminogen activator, tissue type gene DOID:3490 Noonan syndrome ISO RGD:736468 D RGD:13207331|PMID:20686427 20170726 RGD protein:increased activity:blood: 3342 Plat plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction IEP D RGD:1580876|PMID:14512838 20150324 RGD 3342 Plat plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:736468 D RGD:11554173 20200114 CTD CTD Direct Evidence: therapeutic PMID:12297567|PMID:17690543|PMID:18453163|PMID:20547619|PMID:29651748 3342 Plat plasminogen activator, tissue type gene DOID:3526 cerebral infarction ISO RGD:736468 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1579960|PMID:1899364|PMID:9183334|PMID:16148626|PMID:18195371|PMID:18544249 3342 Plat plasminogen activator, tissue type gene DOID:3602 toxic encephalopathy ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19442825 3342 Plat plasminogen activator, tissue type gene DOID:3650 lactic acidosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25331496 3342 Plat plasminogen activator, tissue type gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736468 D RGD:11541045|PMID:16733850 20161006 RGD mRNA:increased expression:pancreas (human) 3342 Plat plasminogen activator, tissue type gene DOID:4193 intracranial thrombosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8678742 3342 Plat plasminogen activator, tissue type gene DOID:4724 brain edema IEP D RGD:6483826|PMID:18718505 20120604 RGD associated with Burns;mRNA:increased expression:brain 3342 Plat plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:736468 D RGD:11554173 20200114 CTD CTD Direct Evidence: therapeutic PMID:29651748 3342 Plat plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:11554173 20181113 CTD CTD Direct Evidence: therapeutic PMID:1430592|PMID:1492007|PMID:1898952|PMID:1899364|PMID:1900011|PMID:2104561|PMID:2105625|PMID:2494454|PMID:2505604|PMID:2521976|PMID:3089627|PMID:3121335|PMID:7488445|PMID:7723950|PMID:7775709|PMID:7902905|PMID:8328192|PMID:8554022|PMID:8598594|PMID:9183334|PMID:10171637|PMID:10505926|PMID:10645301|PMID:10914357|PMID:11382373|PMID:11489769|PMID:12074692|PMID:12227717|PMID:12848087|PMID:15215796|PMID:15301905|PMID:18195371|PMID:19341228|PMID:20122609 3342 Plat plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:1580881|PMID:11848437 19990101 RGD DNA:snp:enhancer:g.-7351C>T (human) 3342 Plat plasminogen activator, tissue type gene DOID:5844 myocardial infarction treatment ISO RGD:736468 D RGD:11541077|PMID:7994806 20161007 RGD 3342 Plat plasminogen activator, tissue type gene DOID:6000 congestive heart failure ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 3342 Plat plasminogen activator, tissue type gene DOID:615 leukopenia ISO RGD:736468 D RGD:11552575|PMID:7646991 20161011 RGD associated with Sepsis;protein:decreased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:630 genetic disease ISO RGD:736468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3342 Plat plasminogen activator, tissue type gene DOID:670 amphetamine abuse ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15659235 3342 Plat plasminogen activator, tissue type gene DOID:8283 peritonitis ISO RGD:736468 D RGD:6484139|PMID:18571586 20120612 RGD 3342 Plat plasminogen activator, tissue type gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736468 D RGD:11541072|PMID:2129164 20161006 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:9000158 Spinal Epidural Hematoma ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10914357|PMID:12227717 3342 Plat plasminogen activator, tissue type gene DOID:9001268 Embolism and Thrombosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9684808 3342 Plat plasminogen activator, tissue type gene DOID:9001521 Subdural Hematoma ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1899364 3342 Plat plasminogen activator, tissue type gene DOID:9001553 Spinal Cord Compression ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 3342 Plat plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis IDA D RGD:6484134|PMID:20035854 20120608 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3342 Plat plasminogen activator, tissue type gene DOID:9001600 Wounds and Injuries IEP D RGD:11541076|PMID:25423126 20161007 RGD protein:increased expression:plasma (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8763515 3342 Plat plasminogen activator, tissue type gene DOID:9002079 Paresis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12690208 3342 Plat plasminogen activator, tissue type gene DOID:9002165 Diabetic Nephropathies ISO RGD:736468 D RGD:2311671|PMID:16598198 20090729 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3342 Plat plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy IEP D RGD:11554180|PMID:25676919 20161020 RGD protein:increased expression:serum (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy treatment IDA D RGD:11554179|PMID:25325345 20161020 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9002522 Embolism ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16148626 3342 Plat plasminogen activator, tissue type gene DOID:9002669 Hypoxia ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25331496 3342 Plat plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736468 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:1430592|PMID:1579960|PMID:1899364|PMID:7477192|PMID:7723950|PMID:8969996|PMID:9836764|PMID:10501537|PMID:11113218|PMID:11940547|PMID:14630814|PMID:16126134|PMID:16190367|PMID:16908730|PMID:17690543|PMID:18346647|PMID:18369171|PMID:18753474|PMID:19095969|PMID:20212195|PMID:21088392|PMID:22436003|PMID:23876515|PMID:29651748 3342 Plat plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:732079 D RGD:11541064|PMID:25673638 20161006 RGD associated with Brain Injuries 3342 Plat plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage treatment IDA D RGD:11537477|PMID:12220690 20161005 RGD human protein in a rat model 3342 Plat plasminogen activator, tissue type gene DOID:9002906 Multiple Organ Failure IEP D RGD:11081009|PMID:16977483 20161006 RGD protein:increased expression:plasma (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9002955 Nerve Degeneration ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 3342 Plat plasminogen activator, tissue type gene DOID:9003049 Femur Head Necrosis ISO RGD:736468 D RGD:11541046|PMID:24025446 20161006 RGD DNA:insertion:intron:IVS8 (human) 3342 Plat plasminogen activator, tissue type gene DOID:9003104 Intracranial Hemorrhages ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2104561|PMID:3168586|PMID:7902905|PMID:8961984|PMID:11320361|PMID:12230423|PMID:15017018|PMID:15215796|PMID:15557913|PMID:17612434|PMID:17687131|PMID:17903947|PMID:20123226|PMID:20536612 3342 Plat plasminogen activator, tissue type gene DOID:9003121 Thromboembolism ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8451030 3342 Plat plasminogen activator, tissue type gene DOID:9003505 Venous Thromboembolism ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 3342 Plat plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis ISO RGD:736468 D RGD:11541057|PMID:14630788 20161006 RGD associated with Antiphospholipid Syndrome 3342 Plat plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:736468 D RGD:11541078|PMID:24806322 20161007 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9003669 Low Back Pain ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7888893 3342 Plat plasminogen activator, tissue type gene DOID:9003676 Brain Hypoxia-Ischemia onset IEP D RGD:6483831|PMID:18467699 20120604 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9003736 Central Nervous System Viral Diseases IEP D RGD:11537478|PMID:19279110 20161005 RGD protein:increased expression:cerebellum (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9003814 Neurologic Manifestations ISO RGD:736468 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22436003|PMID:23876515|PMID:29651748 3342 Plat plasminogen activator, tissue type gene DOID:9003871 Venous Thrombosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11144008|PMID:15557913|PMID:19415734 3342 Plat plasminogen activator, tissue type gene DOID:9003871 Venous Thrombosis ISO RGD:736468 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 3342 Plat plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury IDA D RGD:2311674|PMID:15223382 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9472885 3342 Plat plasminogen activator, tissue type gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:736468 D RGD:11541079|PMID:11423054 20161007 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:9004484 Sepsis treatment IDA D RGD:1598921|PMID:12000738 20161005 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9005036 Bacteremia ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1430592 3342 Plat plasminogen activator, tissue type gene DOID:9005700 Airway Obstruction ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25331496 3342 Plat plasminogen activator, tissue type gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7482654|PMID:8427107 3342 Plat plasminogen activator, tissue type gene DOID:9005930 Endotoxemia treatment ISO RGD:736468 D RGD:11541073|PMID:9091588 20161006 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9006024 Hypotension ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1492007 3342 Plat plasminogen activator, tissue type gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:11080746|PMID:9405184 20161005 RGD protein:increased expression:heart right ventricle, heart left ventricle (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11537479|PMID:8343497 20161005 RGD mRNA, protein:increased expression, increased activity:carotid artery (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15557913 3342 Plat plasminogen activator, tissue type gene DOID:9006646 Metabolic Syndrome ISO RGD:736468 D RGD:2311664|PMID:18249307 20090729 RGD protein:increased expression:serum 3342 Plat plasminogen activator, tissue type gene DOID:9006924 Cardiogenic Shock ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1430592 3342 Plat plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1598096|PMID:2124386|PMID:2514002|PMID:7477192|PMID:8427107|PMID:8598594|PMID:9056608|PMID:9259745|PMID:9400355|PMID:9472885|PMID:9479657|PMID:9479658|PMID:9566367|PMID:9633741|PMID:9707184|PMID:9836764|PMID:9933289|PMID:10171637|PMID:10346413|PMID:10436095|PMID:10572812|PMID:11061250|PMID:11108748|PMID:11113218|PMID:11239184|PMID:11739841|PMID:11940547|PMID:12221155|PMID:12230423|PMID:12384244|PMID:12511774|PMID:14581697|PMID:14657446|PMID:14986460|PMID:15016487|PMID:15017018|PMID:15087567|PMID:16126134|PMID:16184341|PMID:16763187|PMID:16809570|PMID:16908730|PMID:17086147|PMID:17525387|PMID:17612434|PMID:17903870|PMID:17903947|PMID:18346647|PMID:18369171|PMID:18560214|PMID:18753472|PMID:18753474|PMID:19286598|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:20705933|PMID:23876515|PMID:25245553 3342 Plat plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:2311666|PMID:17689411 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9698433|PMID:7477192 19990101 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 3342 Plat plasminogen activator, tissue type gene DOID:9007730 Burns ISO RGD:736468 D RGD:11541048|PMID:11525850 20161006 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:9007923 Back Pain ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 3342 Plat plasminogen activator, tissue type gene DOID:9008212 Diabetic Foot ISO RGD:736468 D RGD:2311669|PMID:17275886 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9008217 Hemorrhage ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2514002|PMID:8082347|PMID:8427107|PMID:9199818|PMID:9266785|PMID:15016487|PMID:15502123|PMID:22507835 3342 Plat plasminogen activator, tissue type gene DOID:9008510 Chronic Hepatitis ISO RGD:736468 D RGD:11541068|PMID:1909901 20161006 RGD protein:increased expression:plasma (human) 3342 Plat plasminogen activator, tissue type gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736468 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 3342 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1598920|PMID:10899350 20161005 RGD protein:decreased expression:plasma (rat) 3342 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311675|PMID:14693179 20090729 RGD mRNA:decreased expression:kidney 3342 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:732079 D RGD:2311672|PMID:16038272 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:2311665|PMID:18235054 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:2311670|PMID:16724515 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:2311673|PMID:15901895 20090729 RGD associated with Obesity 3342 Plat plasminogen activator, tissue type gene DOID:9477 pulmonary embolism ISO RGD:736468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1899825|PMID:2123154|PMID:3105914|PMID:3122266|PMID:8082347|PMID:8451030|PMID:9199818|PMID:9266785|PMID:19415734 3342 Plat plasminogen activator, tissue type gene DOID:9743 diabetic neuropathy ISO RGD:736468 D RGD:2311667|PMID:17636064 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736468 D RGD:2311676|PMID:14652638 20090729 RGD 3342 Plat plasminogen activator, tissue type gene DOID:9970 obesity ISO RGD:736468 D RGD:2311677|PMID:12818410 20090729 RGD 3343 Plau plasminogen activator, urokinase gene DOID:0050127 sinusitis ISO RGD:735727 D RGD:6483796|PMID:21711960 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18491991 3343 Plau plasminogen activator, urokinase gene DOID:0050855 renal fibrosis ISO RGD:733174 D RGD:7241138|PMID:19690163 20130228 RGD associated with Ureteral Obstruction 3343 Plau plasminogen activator, urokinase gene DOID:0050855 renal fibrosis ISO RGD:733174 D RGD:7241268|PMID:15882265 20130307 RGD associated with Ureteral Obstruction 3343 Plau plasminogen activator, urokinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:735727 D RGD:8547730|PMID:15878520 20140410 RGD protein:increased expression:oral mucosa (rat) 3343 Plau plasminogen activator, urokinase gene DOID:0060903 thrombosis IEP D RGD:2325698|PMID:20016209 20130313 RGD protein:increased activity:extracellular region (rat) 3343 Plau plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2106299|PMID:2133253|PMID:2795766|PMID:4884574|PMID:8657906|PMID:12830724 3343 Plau plasminogen activator, urokinase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:735727 D RGD:7240710 20230517 OMIM 3343 Plau plasminogen activator, urokinase gene DOID:0080653 urolithiasis ISO RGD:735727 D RGD:7241142|PMID:18240004 20130304 RGD DNA:snp:3' utr:g.4065C>T (human) 3343 Plau plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder ISO RGD:735727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Quebec platelet disorder PMID:12689937|PMID:18988861|PMID:20007542|PMID:22102275|PMID:25741868|PMID:28301587|PMID:28492532|PMID:32663239|PMID:33270854 3343 Plau plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder susceptibility ISO RGD:735727 D RGD:7240710 20230517 OMIM 3343 Plau plasminogen activator, urokinase gene DOID:10283 prostate cancer severity ISO RGD:735727 D RGD:7241264|PMID:10024688 20130307 RGD protein:increased expression:serum (human) 3343 Plau plasminogen activator, urokinase gene DOID:10487 Hirschsprung's disease ISO RGD:735727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 3343 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:733174 D RGD:6483793|PMID:21860091 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:11554173 20181023 CTD CTD Direct Evidence: marker/mechanism 3343 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:6483794|PMID:21790972 20120601 RGD mRNA:increased expression:brain 3343 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:6484115|PMID:18076107 20120608 RGD DNA:SNPs: :multiple 3343 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:12898287|PMID:15615772|PMID:15616835|PMID:16341549|PMID:28492532 3343 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease no_association ISO RGD:735727 D RGD:6483807|PMID:19889475 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:10754 otitis media treatment ISO RGD:8776154 D RGD:9068941 20200609 RGD PMID:2473673|REF_RGD_ID:11553864 3343 Plau plasminogen activator, urokinase gene DOID:10941 intracranial aneurysm ISO RGD:733174 D RGD:6483795|PMID:21786025 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:10952 nephritis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12671112 3343 Plau plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:7241144|PMID:16825821 20130304 RGD DNA:snp:3' utr:g.4065C>T (human) 3343 Plau plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:7241213|PMID:18336603 20130305 RGD protein:increased expression:urinary bladder (human) 3343 Plau plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer treatment IDA D RGD:4144867|PMID:19010488 20130301 RGD 3343 Plau plasminogen activator, urokinase gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9002298|PMID:12671112 3343 Plau plasminogen activator, urokinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:735727 D RGD:4892109|PMID:17994220 20110204 RGD 3343 Plau plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy IEP D RGD:6483827|PMID:18716863 20120604 RGD mRNA:increased expression:sciatic nerve (rat) 3343 Plau plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy treatment IDA D RGD:7241585|PMID:21151668 20130312 RGD 3343 Plau plasminogen activator, urokinase gene DOID:1168 familial hyperlipidemia ISO RGD:733174 D RGD:6903200|PMID:22119245 20130227 RGD associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) 3343 Plau plasminogen activator, urokinase gene DOID:11832 visual epilepsy ISO RGD:733174 D RGD:6483790|PMID:22293605 20120531 RGD 3343 Plau plasminogen activator, urokinase gene DOID:14018 alcoholic liver cirrhosis IDA D RGD:7241800|PMID:19615318 20130313 RGD 3343 Plau plasminogen activator, urokinase gene DOID:1461 cholesterol embolism ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16773802 3343 Plau plasminogen activator, urokinase gene DOID:1612 breast cancer ISO RGD:735727 D RGD:7241082|PMID:22296682 20130226 RGD protein:increased expression:nipple, discharge (human) 3343 Plau plasminogen activator, urokinase gene DOID:1612 breast cancer treatment IDA D RGD:7241801|PMID:19500378 20130313 RGD 3343 Plau plasminogen activator, urokinase gene DOID:1749 squamous cell carcinoma severity ISO RGD:735727 D RGD:7241134|PMID:12866027 20130227 RGD mRNA:increased expression:oral cavity (human) 3343 Plau plasminogen activator, urokinase gene DOID:1793 pancreatic cancer ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 3343 Plau plasminogen activator, urokinase gene DOID:1824 status epilepticus IDA D RGD:6484215|PMID:17040480 20120613 RGD 3343 Plau plasminogen activator, urokinase gene DOID:1824 status epilepticus IEP D RGD:6483810|PMID:19527776 20130313 RGD mRNA, protein:increased expression:hippocampus (rat) 3343 Plau plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:733174 D RGD:6483805|PMID:20026272 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:733174 D RGD:7241203|PMID:15096455 20130305 RGD 3343 Plau plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:735727 D RGD:7241201|PMID:17706748 20130305 RGD associated with Kidney Failure, Chronic; protein:increased expression:plasma (human) 3343 Plau plasminogen activator, urokinase gene DOID:2043 hepatitis B severity ISO RGD:735727 D RGD:6483828|PMID:18691743 20120604 RGD protein:increased expression:plasma 3343 Plau plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia IDA D RGD:7241795|PMID:19952306 20130313 RGD 3343 Plau plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia IEP D RGD:7241584|PMID:21375013 20130312 RGD protein:increased expression:cerebral cortex (rat) 3343 Plau plasminogen activator, urokinase gene DOID:2316 brain ischemia ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9731615|PMID:10472989|PMID:10512912|PMID:17927297 3343 Plau plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14644129 3343 Plau plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma severity ISO RGD:735727 D RGD:7241280|PMID:15191676 20130308 RGD protein:increased expression:urinary tract, tumor (human) 3343 Plau plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 3343 Plau plasminogen activator, urokinase gene DOID:2841 asthma ISO RGR:735727 D RGD:4892037|PMID:18519237 20110128 RGD 3343 Plau plasminogen activator, urokinase gene DOID:2983 anuria ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 3343 Plau plasminogen activator, urokinase gene DOID:2986 IgA glomerulonephritis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9002298 3343 Plau plasminogen activator, urokinase gene DOID:299 adenocarcinoma ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 3343 Plau plasminogen activator, urokinase gene DOID:3070 high grade glioma severity ISO RGD:735727 D RGD:7241260|PMID:7604873 20130307 RGD protein:increased expression:brain (human) 3343 Plau plasminogen activator, urokinase gene DOID:3071 gliosarcoma severity ISO RGD:733174 D RGD:7241591|PMID:20606645 20130312 RGD mouse gene in rat model 3343 Plau plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease IMP D RGD:6484146|PMID:17651644 20120612 RGD 3343 Plau plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735727 D RGD:6483803|PMID:20624254 20120601 RGD proteine:increased expression:sputum, neutrophil 3343 Plau plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:733174 D RGD:6484145|PMID:17653104 20120612 RGD 3343 Plau plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8662173|PMID:15557913 3343 Plau plasminogen activator, urokinase gene DOID:3407 carotid artery disease ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10512912 3343 Plau plasminogen activator, urokinase gene DOID:3525 middle cerebral artery infarction ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11677890|PMID:15181847|PMID:17702958 3343 Plau plasminogen activator, urokinase gene DOID:3526 cerebral infarction ISO RGD:735727 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:12133459|PMID:16773802 3343 Plau plasminogen activator, urokinase gene DOID:3576 sagittal sinus thrombosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10668740 3343 Plau plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis ISO RGD:733174 D RGD:7241206|PMID:12376355 20130305 RGD 3343 Plau plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment IDA D RGD:7241544|PMID:23327706 20130308 RGD 3343 Plau plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:735727 D RGD:7241204|PMID:7516275 20130305 RGD human protein in rat model 3343 Plau plasminogen activator, urokinase gene DOID:3798 pleural empyema ISO RGD:735727 D RGD:4891955|PMID:20304453 20110125 RGD Gene product used in treatment of disease 3343 Plau plasminogen activator, urokinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735727 D RGD:4892055|PMID:20937265 20110131 RGD 3343 Plau plasminogen activator, urokinase gene DOID:3969 thyroid gland papillary carcinoma severity ISO RGD:735727 D RGD:7241798|PMID:22702340 20130313 RGD mRNA:increased expression:thyroid gland (human) 3343 Plau plasminogen activator, urokinase gene DOID:4450 renal cell carcinoma severity ISO RGD:735727 D RGD:7241133|PMID:20544684 20130227 RGD mRNA:increased expression:kidney (human) 3343 Plau plasminogen activator, urokinase gene DOID:4483 rhinitis ISO RGD:733174 D RGD:8547809|PMID:21339035 20120601 RGD mRNA:increased expression:nasal cavity epithelium 3343 Plau plasminogen activator, urokinase gene DOID:4724 brain edema IEP D RGD:6483826|PMID:18718505 20120604 RGD associated with Burns;mRNA:increased expression:brain 3343 Plau plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11677890 3343 Plau plasminogen activator, urokinase gene DOID:5082 liver cirrhosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18481824|PMID:26396155 3343 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction IEP D RGD:6484133|PMID:20952728 20120608 RGD mRNA, protein:increased expression:myocardium 3343 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1908371|PMID:2174952|PMID:2382605|PMID:3068399|PMID:3984876|PMID:8416330 3343 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:6484126|PMID:20518747 20120608 RGD DNA:SNP:3' utr:c.*141C>T (rs4065) (human) 3343 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:6484145|PMID:17653104 20120612 RGD 3343 Plau plasminogen activator, urokinase gene DOID:630 genetic disease ISO RGD:735727 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3343 Plau plasminogen activator, urokinase gene DOID:649 prion disease ISO RGD:733174 D RGD:6483816|PMID:19459212 20120604 RGD mRNA:increased expression:hippocampus 3343 Plau plasminogen activator, urokinase gene DOID:6713 cerebrovascular disease ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1265806|PMID:17308290 3343 Plau plasminogen activator, urokinase gene DOID:684 hepatocellular carcinoma ISS RGD:733174 D RGD:13592920 20180518 MouseDO OMIM:114550 3343 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease IEP D RGD:7241279|PMID:15506291 20130308 RGD protein:increased expression, increased activity:kidney (rat) 3343 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:735727 D RGD:6483806|PMID:19926968 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease severity ISO RGD:735727 D RGD:7241081|PMID:22683425 20130226 RGD protein:increased expression:plasma (human) 3343 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease treatment ISO RGD:735727 D RGD:7241218|PMID:17869326 20130305 RGD 3343 Plau plasminogen activator, urokinase gene DOID:8283 peritonitis ISO RGD:735727 D RGD:6484139|PMID:18571586 20120612 RGD 3343 Plau plasminogen activator, urokinase gene DOID:8337 appendicitis ISO RGD:735727 D RGD:6483822|PMID:19153874 20120604 RGD protein:increased expression:appendix 3343 Plau plasminogen activator, urokinase gene DOID:8805 intermediate coronary syndrome ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2382605 3343 Plau plasminogen activator, urokinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:733174 D RGD:6483797|PMID:21573723 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9000184 Ventricular Fibrillation ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9083243 3343 Plau plasminogen activator, urokinase gene DOID:9000217 Stomach Neoplasms ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3343 Plau plasminogen activator, urokinase gene DOID:9000310 Lung Injury IEP D RGD:4143526|PMID:19099788 20110204 RGD associated with Hyperoxia 3343 Plau plasminogen activator, urokinase gene DOID:9000363 Hematuria ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 3343 Plau plasminogen activator, urokinase gene DOID:9000469 Viral Myocarditis susceptibility ISO RGD:733174 D RGD:7241803|PMID:19246678 20130313 RGD mRNA:increased expression:heart (mouse) 3343 Plau plasminogen activator, urokinase gene DOID:9000483 Angina Pectoris ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1730212 3343 Plau plasminogen activator, urokinase gene DOID:9000528 Coronary Disease ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1730212|PMID:9181759 3343 Plau plasminogen activator, urokinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 3343 Plau plasminogen activator, urokinase gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:7241556|PMID:22300381 20130311 RGD Cavernous Nerve Injury; mRNA:increased expression:pelvic ganglion (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia IEP D RGD:7241809|PMID:18998460 20130314 RGD mRNA, protein:decreased expression:testes, epididymis (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18998460 3343 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis IDA D RGD:6484134|PMID:20035854 20120608 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:6484134|PMID:20035854 20130313 RGD protein:increased expression:liver (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3343 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:2317516|PMID:16958060 20120613 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:7241553|PMID:23018346 20130311 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:735727 D RGD:7241259|PMID:16387096 20130307 RGD protein:increased secretion:T lymphocyte (human) 3343 Plau plasminogen activator, urokinase gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1580123|PMID:15322501 20130308 RGD mRNA:increased expression:renal glomerulus (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735727 D RGD:7241213|PMID:18336603 20130305 RGD protein:decreased expression:kidney (human) 3343 Plau plasminogen activator, urokinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11454671|PMID:16430655|PMID:17192053 3343 Plau plasminogen activator, urokinase gene DOID:9002457 Experimental Arthritis ISO RGD:733174 D RGD:6483801|PMID:20973954 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1265806|PMID:8025938|PMID:9731615|PMID:15181847|PMID:17702958 3343 Plau plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735727 D RGD:7241262|PMID:3884145 20130307 RGD protein:increased expression:colon, mucosa (human) 3343 Plau plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:735727 D RGD:7241805|PMID:19214512 20130314 RGD human tumor cell line in mouse model 3343 Plau plasminogen activator, urokinase gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9403446 3343 Plau plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages IMP D RGD:6484131|PMID:21779364 20120608 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10392865|PMID:10472989|PMID:10512912|PMID:17308290 3343 Plau plasminogen activator, urokinase gene DOID:9003121 Thromboembolism ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3718210 3343 Plau plasminogen activator, urokinase gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8025938|PMID:8416330|PMID:10392865|PMID:11041470 3343 Plau plasminogen activator, urokinase gene DOID:9003369 Strongylida Infections IMP D RGD:6484141|PMID:18022622 20120612 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:2316117|PMID:19587273 20120604 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:6483831|PMID:18467699 20130304 RGD mRNA, protein:increased expression, increased activity:hippocampus (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9003871 Venous Thrombosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3161212|PMID:3488869|PMID:6359570|PMID:15557913 3343 Plau plasminogen activator, urokinase gene DOID:9003936 Cardiomegaly treatment IDA D RGD:7241558|PMID:22160250 20130311 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury IEP D RGD:6483808|PMID:19663807 20120601 RGD protein:increased expression:spinal cord (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:733174 D RGD:6483830|PMID:18586014 20120604 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15181847 3343 Plau plasminogen activator, urokinase gene DOID:9004017 Chronic Hepatitis C ISO RGD:735727 D RGD:6483809|PMID:19628656 20120601 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9004283 Transplant Rejection ISO RGD:735727 D RGD:7241140|PMID:14531820 20130304 RGD mRNA, protein:increased expression:kidney (human) 3343 Plau plasminogen activator, urokinase gene DOID:9004389 Bone Neoplasms ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 3343 Plau plasminogen activator, urokinase gene DOID:9004484 Sepsis disease_progression ISO RGD:735727 D RGD:4891938|PMID:21219633 20110124 RGD Pneumonia associated sepsis 3343 Plau plasminogen activator, urokinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14644129|PMID:26284488 3343 Plau plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury IDA D RGD:5147760|PMID:21473829 20120601 RGD associated with Endotoxemia 3343 Plau plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury treatment IDA D RGD:7241552|PMID:23324284 20130311 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733174 D RGD:7241205|PMID:15631996 20130305 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9004816 Jaw Cysts severity ISO RGD:735727 D RGD:6484123|PMID:20646237 20130227 RGD protein:increased expression:cyst, liquid (human) 3343 Plau plasminogen activator, urokinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16430655 3343 Plau plasminogen activator, urokinase gene DOID:9005172 Lung Neoplasms severity ISO RGD:735727 D RGD:7241261|PMID:2054790 20130307 RGD protein:increased expression:tumor, cytoplasm (human) 3343 Plau plasminogen activator, urokinase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression IMP D RGD:6484140|PMID:18052026 20120612 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:733174 D RGD:6484127|PMID:20466854 20120608 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:735727 D RGD:6484123|PMID:20646237 20120608 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:735727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 3343 Plau plasminogen activator, urokinase gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9403446 3343 Plau plasminogen activator, urokinase gene DOID:9006024 Hypotension ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10392865 3343 Plau plasminogen activator, urokinase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1713745|PMID:9181759|PMID:9731615|PMID:15557913 3343 Plau plasminogen activator, urokinase gene DOID:9007096 Stroke ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12742636 3343 Plau plasminogen activator, urokinase gene DOID:9007356 Eczema ISO RGD:735727 D RGD:6483821|PMID:19416247 20120604 RGD 3343 Plau plasminogen activator, urokinase gene DOID:9007364 Mouth Neoplasms ISO RGD:735727 D RGD:7241146|PMID:15356878 20130304 RGD DNA:snp:3' utr:g.4065C>T (human) 3343 Plau plasminogen activator, urokinase gene DOID:9007480 Hyperoxia IEP D RGD:4143526|PMID:19099788 20130314 RGD mRNA, protein:altered expression:lung (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9008091 Optic Nerve Injuries IEP D RGD:6483802|PMID:20798533 20120601 RGD mRNA:increased expression:optic nerve (rat) 3343 Plau plasminogen activator, urokinase gene DOID:9008217 Hemorrhage ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8225663|PMID:9266785|PMID:15502123|PMID:15557913 3343 Plau plasminogen activator, urokinase gene DOID:9452 fatty liver disease ISS RGD:733174 D RGD:13592920 20180518 MouseDO OMIM:228100 3343 Plau plasminogen activator, urokinase gene DOID:9471 meningitis ISO RGD:735727 D RGD:6484124|PMID:20584616 20120608 RGD associated with Angiostrongyliasis 3343 Plau plasminogen activator, urokinase gene DOID:9477 pulmonary embolism ISO RGD:735727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1098216|PMID:4430106|PMID:4884574|PMID:9038699|PMID:9266785|PMID:11041470 3343 Plau plasminogen activator, urokinase gene DOID:988 mitral valve prolapse ISO RGD:735727 D RGD:1580896|PMID:15262029 19990101 RGD 3344 Plcb1 phospholipase C beta 1 gene DOID:0050562 West syndrome ISO RGD:733094 D RGD:8554872 20180605 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: Infantile spasms PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 3344 Plcb1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19805378 3344 Plcb1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:733094 D RGD:11535164|PMID:16820933 20160921 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) 3344 Plcb1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:733094 D RGD:11535956|PMID:21109771 20160923 RGD 3344 Plcb1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:7240710 20130221 OMIM 3344 Plcb1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:32733715|PMID:9305844|PMID:9536098 3344 Plcb1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:9305844|PMID:9536098 3344 Plcb1 phospholipase C beta 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733094 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 3344 Plcb1 phospholipase C beta 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 3344 Plcb1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733094 D RGD:13825140|PMID:8534418 20181116 RGD 3344 Plcb1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISS RGD:735582 D RGD:13592920 20180518 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 3344 Plcb1 phospholipase C beta 1 gene DOID:11832 visual epilepsy ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532 3344 Plcb1 phospholipase C beta 1 gene DOID:1826 epilepsy ISO RGD:733094 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 3344 Plcb1 phospholipase C beta 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733094 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 3344 Plcb1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:733094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17667964 3344 Plcb1 phospholipase C beta 1 gene DOID:5844 myocardial infarction IEP D RGD:2314514|PMID:9521338 20091118 RGD protein:increased expression:heart 3344 Plcb1 phospholipase C beta 1 gene DOID:630 genetic disease ISO RGD:733094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 3344 Plcb1 phospholipase C beta 1 gene DOID:9000641 Pain ISO RGD:733094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16405873 3344 Plcb1 phospholipase C beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3344 Plcb1 phospholipase C beta 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:733094 D RGD:11535940|PMID:20516454 20160922 RGD mRNA:increased expression:blood (human) 3344 Plcb1 phospholipase C beta 1 gene DOID:9245 Alagille syndrome ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 3345 Plcb4 phospholipase C, beta 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 3345 Plcb4 phospholipase C, beta 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 3345 Plcb4 phospholipase C, beta 4 gene DOID:10283 prostate cancer ISO RGD:733727 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3345 Plcb4 phospholipase C, beta 4 gene DOID:1909 melanoma ISO RGD:733727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 3345 Plcb4 phospholipase C, beta 4 gene DOID:2843 long QT syndrome ISO RGD:733727 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 3345 Plcb4 phospholipase C, beta 4 gene DOID:6039 uveal melanoma ISO RGD:733727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27089179 3345 Plcb4 phospholipase C, beta 4 gene DOID:6039 uveal melanoma ISO RGD:733727 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:31186267 3345 Plcb4 phospholipase C, beta 4 gene DOID:630 genetic disease ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16114046|PMID:22560091|PMID:23315542|PMID:25741868|PMID:31186267|PMID:31395954|PMID:33258288 3345 Plcb4 phospholipase C, beta 4 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:733727 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 3345 Plcb4 phospholipase C, beta 4 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:733727 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome PMID:16114046|PMID:22560091|PMID:23315542 3345 Plcb4 phospholipase C, beta 4 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:16114046|PMID:18314001|PMID:22560091|PMID:23315542 3345 Plcb4 phospholipase C, beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:7240710 20140903 OMIM 3345 Plcb4 phospholipase C, beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 2 PMID:16114046|PMID:18314001|PMID:18680186|PMID:18686566|PMID:19152421|PMID:22286465|PMID:22560091|PMID:23315542|PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:33258288 3345 Plcb4 phospholipase C, beta 4 gene DOID:9245 Alagille syndrome ISO RGD:733727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 3346 Plcd1 phospholipase C, delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:733331 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 3346 Plcd1 phospholipase C, delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:7240710 20171011 OMIM 3346 Plcd1 phospholipase C, delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 PMID:21665001|PMID:25741868 3346 Plcd1 phospholipase C, delta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733331 D RGD:13825140|PMID:8534418 20181116 RGD 3346 Plcd1 phospholipase C, delta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733331 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 3346 Plcd1 phospholipase C, delta 1 gene DOID:10763 hypertension IDA D RGD:2300423|PMID:1313006 20080919 RGD protein:increased activity:aorta 3346 Plcd1 phospholipase C, delta 1 gene DOID:10763 hypertension IEP D RGD:2300421|PMID:17198910 20080919 RGD protein:increased expression:aorta, arteriole, glomerulus 3346 Plcd1 phospholipase C, delta 1 gene DOID:6000 congestive heart failure IDA D RGD:2300431|PMID:11181012 20080919 RGD 3346 Plcd1 phospholipase C, delta 1 gene DOID:630 genetic disease ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3346 Plcd1 phospholipase C, delta 1 gene DOID:8398 osteoarthritis ISO RGD:733331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 3346 Plcd1 phospholipase C, delta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1553559 D RGD:1302551|PMID:12805213 19990101 RGD 3346 Plcd1 phospholipase C, delta 1 gene DOID:9006024 Hypotension susceptibility IAGP D RGD:2300422|PMID:1358065 20080919 RGD DNA:missense mutation 3346 Plcd1 phospholipase C, delta 1 gene DOID:9007102 Myocardial Ischemia IEP D RGD:2300429|PMID:15276620 20080919 RGD protein:decreased expression:heart 3346 Plcd1 phospholipase C, delta 1 gene DOID:9007480 Hyperoxia IEP D RGD:1299008|PMID:12850505 20080919 RGD protein:altered localization 3346 Plcd1 phospholipase C, delta 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1304368|PMID:12623065 20080919 RGD protein:altered activity 3346 Plcd1 phospholipase C, delta 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733331 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 3346 Plcd1 phospholipase C, delta 1 gene DOID:987 alopecia ISO RGD:1553559 D RGD:1302551|PMID:12805213 19990101 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0001816 angiosarcoma ISO RGD:735936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:735936 D RGD:151356944|PMID:8174133 20220218 RGD protein:increased expression:colonic mucosa (human) 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:151356936|PMID:25085076 20220218 RGD protein:decreased expression:oral cavity (human) 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735936 D RGD:11526681|PMID:26464646 20190111 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 3347 Plcg1 phospholipase C, gamma 1 gene DOID:0080322 polycystic kidney disease TAS D RGD:625563|PMID:12009430 19990101 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:10652 Alzheimer's disease ISO RGD:735936 D RGD:13825140|PMID:8534418 20181116 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:1324 lung cancer exacerbates ISO RGD:735937 D RGD:151356960|PMID:33077911 20220221 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:1612 breast cancer ISO RGD:735936 D RGD:2299874|PMID:9703922 20080819 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:219 colon cancer treatment IEP D RGD:151356942|PMID:7812955 20220218 RGD 3347 Plcg1 phospholipase C, gamma 1 gene DOID:2234 focal epilepsy ISO RGD:735936 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 3347 Plcg1 phospholipase C, gamma 1 gene DOID:2876 laryngeal squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:151665160|PMID:33466212 20220314 RGD mRNA:increased expression:larynx (human) 3347 Plcg1 phospholipase C, gamma 1 gene DOID:3459 breast carcinoma ISO RGD:735936 D RGD:2299875|PMID:1683701 20080819 RGD protein:increased expression:breast 3347 Plcg1 phospholipase C, gamma 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735936 D RGD:151665816|PMID:33928024 20220405 RGD human cell line in a mouse model 3347 Plcg1 phospholipase C, gamma 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735936 D RGD:151356960|PMID:33077911 20220221 RGD protein:decreased expression:lung (human) 3347 Plcg1 phospholipase C, gamma 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735936 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3347 Plcg1 phospholipase C, gamma 1 gene DOID:630 genetic disease ISO RGD:735936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3347 Plcg1 phospholipase C, gamma 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735936 D RGD:151356937|PMID:30623526 20220218 RGD human cell line in a mouse model 3347 Plcg1 phospholipase C, gamma 1 gene DOID:8541 Sezary's disease ISO RGD:735936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 3347 Plcg1 phospholipase C, gamma 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2299877|PMID:17612968 20080819 RGD protein:increased tyrosine phosphorylation:lens 3347 Plcg1 phospholipase C, gamma 1 gene DOID:9256 colorectal cancer ISO RGD:735936 D RGD:151356938|PMID:8275435 20220218 RGD protein:increased expression:colorectum (human) 3347 Plcg1 phospholipase C, gamma 1 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 3348 Plcg2 phospholipase C, gamma 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732989 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 3348 Plcg2 phospholipase C, gamma 2 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:732989 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:25741868 3348 Plcg2 phospholipase C, gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:7240710 20140911 OMIM 3348 Plcg2 phospholipase C, gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 PMID:16199547|PMID:17576681|PMID:22236196|PMID:24033266|PMID:24869598|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:30619256|PMID:31853824|PMID:32047491|PMID:33859323|PMID:9536098 3348 Plcg2 phospholipase C, gamma 2 gene DOID:10652 Alzheimer's disease ISO RGD:732989 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 3348 Plcg2 phospholipase C, gamma 2 gene DOID:630 genetic disease ISO RGD:732989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9000972 Fever ISO RGD:732989 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Episodic fever 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:732989 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542411 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:732989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:28492532 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:7240710 20140903 OMIM 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated PMID:23000145|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256|PMID:34298581 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3348 Plcg2 phospholipase C, gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256 3349 Pld1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:7240710 20200311 OMIM 3349 Pld1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiac valvular defect, developmental PMID:16199547|PMID:25741868|PMID:27799408|PMID:28492532|PMID:33645542 3349 Pld1 phospholipase D1 gene DOID:1062 Fanconi syndrome ISO RGD:70829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 3349 Pld1 phospholipase D1 gene DOID:11832 visual epilepsy IEP D RGD:2299910|PMID:15330336 20080820 RGD protein:increased expression:hippocampus 3349 Pld1 phospholipase D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:70829 D RGD:14392801|PMID:27713167 20190301 RGD protein:increased expression:pancreas (human) 3349 Pld1 phospholipase D1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70829 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 3349 Pld1 phospholipase D1 gene DOID:630 genetic disease ISO RGD:70829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27513193|PMID:27799408|PMID:28492532|PMID:33645542 3349 Pld1 phospholipase D1 gene DOID:9003936 Cardiomegaly ISO RGD:70829 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 3350 Pld2 phospholipase D2 gene DOID:11832 visual epilepsy IEP D RGD:2299910|PMID:15330336 20080820 RGD protein:increased expression:hippocampus 3350 Pld2 phospholipase D2 gene DOID:4450 renal cell carcinoma ISO RGD:733873 D RGD:2299898|PMID:11185526 20080820 RGD protein:increased expression:kidney 3350 Pld2 phospholipase D2 gene DOID:6000 congestive heart failure IEP D RGD:2299908|PMID:15601581 20080820 RGD protein:increased expression:heart left ventricle 3350 Pld2 phospholipase D2 gene DOID:630 genetic disease ISO RGD:733873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3350 Pld2 phospholipase D2 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:733873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25065577 3350 Pld2 phospholipase D2 gene DOID:9003936 Cardiomegaly ISO RGD:733873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 3350 Pld2 phospholipase D2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2299901|PMID:17393174 20080820 RGD protein:increased expression:hippocampus CA1, hippocampus granule cell layer 3350 Pld2 phospholipase D2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2299902|PMID:17024567 20080820 RGD mRNA:decreased expression:brainstem, cerebellum 3350 Pld2 phospholipase D2 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2299906|PMID:15752718 20080822 RGD protein:altered activity:sarcolemma, sarcoplasmic reticulum, heart left ventricle 3351 Plin1 perilipin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:733482 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 3351 Plin1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:7240710 20180912 OMIM 3351 Plin1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy PMID:21345103|PMID:25114292|PMID:25741868|PMID:28492532|PMID:29747582 3351 Plin1 perilipin 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:733482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 3351 Plin1 perilipin 1 gene DOID:2717 Bloom syndrome ISO RGD:733482 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3351 Plin1 perilipin 1 gene DOID:630 genetic disease ISO RGD:733482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3351 Plin1 perilipin 1 gene DOID:9256 colorectal cancer ISO RGD:733482 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3351 Plin1 perilipin 1 gene DOID:9351 diabetes mellitus ISO RGD:733482 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532 3351 Plin1 perilipin 1 gene DOID:9970 obesity ISO RGD:733482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15001633 3351 Plin1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:733482 D RGD:1581041|PMID:15985482 19990101 RGD DNA:snp:intron:g.11482G>A (human) 3351 Plin1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:736220 D RGD:737723|PMID:11371650 19990101 RGD 3352 Plk1 polo-like kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1353801 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3352 Plk1 polo-like kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:1353801 D RGD:2299939|PMID:15948124 20080821 RGD mRNA, protein:increased expression:prostate gland 3352 Plk1 polo-like kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1353801 D RGD:2299940|PMID:15761500 20080821 RGD 3352 Plk1 polo-like kinase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353801 D RGD:2299938|PMID:16837776 20080821 RGD 3352 Plk1 polo-like kinase 1 gene DOID:1240 leukemia ISO RGD:1353801 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26008977 3352 Plk1 polo-like kinase 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353801 D RGD:2299941|PMID:14970859 20080821 RGD protein:increased expression:ovary 3352 Plk1 polo-like kinase 1 gene DOID:289 endometriosis ISO RGD:1353801 D RGD:2299937|PMID:18353325 20080821 RGD mRNA, protein:increased expression 3352 Plk1 polo-like kinase 1 gene DOID:3070 high grade glioma ISO RGD:1353801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22000864 3352 Plk1 polo-like kinase 1 gene DOID:3459 breast carcinoma severity ISO RGD:1353801 D RGD:2299942|PMID:15785925 20080821 RGD protein:increased expression:breast 3352 Plk1 polo-like kinase 1 gene DOID:630 genetic disease ISO RGD:1353801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3352 Plk1 polo-like kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353801 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 3352 Plk1 polo-like kinase 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353801 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:0110214 cleft soft palate ISO RGD:1606836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft soft palate PMID:22689593|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29177700|PMID:29178448 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606836 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29178448|PMID:32655337 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:1459 hypothyroidism IEP D RGD:2314536|PMID:15817667 20091119 RGD mRNA:decreased expression:multiple organs 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1606836 D RGD:151665822|PMID:29072684 20220405 RGD 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1606836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:8398 osteoarthritis ISO RGD:1606836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1606836 D RGD:151665822|PMID:29072684 20220405 RGD associated with lung non-small cell carcinoma 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:7240710 20130221 OMIM 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bruck syndrome 2 PMID:12881513|PMID:15523624|PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28116328|PMID:28492532|PMID:29177700|PMID:29178448|PMID:31472299|PMID:32655337|PMID:9927692 3353 Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:1606836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15865105 3354 Plp1 proteolipid protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732304 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3354 Plp1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:7240710 20130221 OMIM 3354 Plp1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319885|PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:1720927|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:31448840|PMID:33504798|PMID:34782662|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:7539213|PMID:8012387|PMID:8320699|PMID:8659540|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9633722|PMID:9634530|PMID:9934976 3354 Plp1 proteolipid protein 1 gene DOID:1059 intellectual disability ISO RGD:732304 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 3354 Plp1 proteolipid protein 1 gene DOID:11832 visual epilepsy IAGP D RGD:1358781|PMID:2479544 19990101 RGD 3354 Plp1 proteolipid protein 1 gene DOID:11832 visual epilepsy IAGP D RGD:1358782|PMID:434110 19990101 RGD 3354 Plp1 proteolipid protein 1 gene DOID:12849 autistic disorder ISO RGD:732304 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3354 Plp1 proteolipid protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 3354 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:18571143 3354 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:1358559|PMID:10425042 19990101 RGD DNA:missense mutation:cds:p.A246T (human) 3354 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:1358783|PMID:14572140 19990101 RGD 3354 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:7240710 20130221 OMIM 3354 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22343157|PMID:22695888|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 3354 Plp1 proteolipid protein 1 gene DOID:3213 demyelinating disease IAGP D RGD:1358781|PMID:2479544 20170412 RGD DNA:missense mutation:cds:p.T75P(rat) 3354 Plp1 proteolipid protein 1 gene DOID:630 genetic disease ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 3354 Plp1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:21068375 3354 Plp1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1551293 D RGD:40902822|PMID:24941845 20201211 RGD 3354 Plp1 proteolipid protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:732304 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Spasticity 3354 Plp1 proteolipid protein 1 gene DOID:9007553 neurotoxicity treatment IEP D RGD:213230154|PMID:33166664 20230323 RGD 3354 Plp1 proteolipid protein 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:30296670|PMID:12811845 20200615 RGD human sequence peptide in a mouse model; associated with Herpesviridae infections 3354 Plp1 proteolipid protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732304 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Global developmental delay 3358 Pmch pro-melanin-concentrating hormone gene DOID:630 genetic disease ISO RGD:731886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3358 Pmch pro-melanin-concentrating hormone gene DOID:9007692 Insulin Resistance IDA D RGD:1642484|PMID:16002548 20070919 RGD 3358 Pmch pro-melanin-concentrating hormone gene DOID:9970 obesity IEP D RGD:1624360|PMID:15363890 20070919 RGD associated with Hyperphagia;protein:increased expression:hypothalamus 3358 Pmch pro-melanin-concentrating hormone gene DOID:9970 obesity ISO RGD:1553120 D RGD:1642486|PMID:12453827 20070919 RGD associated with Hyperphagia 3358 Pmch pro-melanin-concentrating hormone gene DOID:9970 obesity ISO RGD:731886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12355323 3359 Pmp22 peripheral myelin protein 22 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:69112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10078969|PMID:10093067|PMID:10211478|PMID:10330345|PMID:10399754|PMID:10586280|PMID:10775544|PMID:10915775|PMID:10982389|PMID:11081809|PMID:11139264|PMID:11314784|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12090404|PMID:12207933|PMID:12402337|PMID:12796555|PMID:12901701|PMID:1303230|PMID:1303281|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:1564512|PMID:16199547|PMID:16288874|PMID:16437560|PMID:1677316|PMID:17576681|PMID:1822787|PMID:18642376|PMID:18698610|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19543269|PMID:19691535|PMID:20301384|PMID:20301566|PMID:20453308|PMID:20493460|PMID:20516806|PMID:20739940|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21827951|PMID:21840889|PMID:21962505|PMID:22006697|PMID:22131320|PMID:22190321|PMID:23224996|PMID:23263778|PMID:23649551|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26454100|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28374912|PMID:28382305|PMID:28492532|PMID:28600779|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32412171|PMID:32513719|PMID:32719652|PMID:33131168|PMID:33933451|PMID:34332267|PMID:3467805|PMID:6313869|PMID:7139106|PMID:7649472|PMID:7728152|PMID:7829101|PMID:8012365|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8510709|PMID:8777804|PMID:8894410|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9040744|PMID:9055797|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9536098|PMID:9544841|PMID:9585367|PMID:9678704|PMID:9712007|PMID:9748013|PMID:9888385 3359 Pmp22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:7240710 20180425 OMIM 3359 Pmp22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10078969|PMID:10093067|PMID:10211478|PMID:10399754|PMID:10663978|PMID:10982389|PMID:11139264|PMID:11314784|PMID:12090401|PMID:12439896|PMID:12901701|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:15992829|PMID:18698610|PMID:18795802|PMID:21670407|PMID:21840889|PMID:25385046|PMID:25741868|PMID:26102530|PMID:26392352|PMID:28492532|PMID:32719652|PMID:3467805|PMID:7728152|PMID:7825607|PMID:8275092|PMID:8422677|PMID:8541860|PMID:8995589|PMID:9004143|PMID:9055797|PMID:9187667|PMID:9425015|PMID:9452053|PMID:9544841|PMID:9585367|PMID:9888385 3359 Pmp22 peripheral myelin protein 22 gene DOID:0060041 autism spectrum disorder ISO RGD:69112 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 3359 Pmp22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:7240710 20131030 OMIM 3359 Pmp22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy PMID:10078969|PMID:10211478|PMID:10586280|PMID:11081809|PMID:12439896|PMID:12796555|PMID:14502374|PMID:15205993|PMID:15474367|PMID:15537650|PMID:15955700|PMID:16288874|PMID:16437560|PMID:17620487|PMID:18698610|PMID:19067730|PMID:19691535|PMID:20301384|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21670407|PMID:21692910|PMID:21962505|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25400662|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:28333917|PMID:28374912|PMID:28492532|PMID:30675404|PMID:31664448|PMID:32513719|PMID:32719652|PMID:7649472|PMID:7825607|PMID:8012388|PMID:8252046|PMID:8422677|PMID:8541860|PMID:8894410|PMID:8988161|PMID:9040737|PMID:9371959|PMID:9452099|PMID:9678704|PMID:9712007 3359 Pmp22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:7240710 20170920 OMIM 3359 Pmp22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A PMID:10078969|PMID:10399754|PMID:10489052|PMID:10586280|PMID:10915775|PMID:11081809|PMID:11314784|PMID:11545686|PMID:11835375|PMID:12090404|PMID:12796555|PMID:1301995|PMID:1303281|PMID:1349106|PMID:14502374|PMID:15205993|PMID:15285778|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:1564512|PMID:15786462|PMID:16437560|PMID:1677316|PMID:1721895|PMID:17796454|PMID:1822787|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19691535|PMID:20301384|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21692910|PMID:21827951|PMID:21840889|PMID:21962505|PMID:22006697|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25429913|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28333917|PMID:28492532|PMID:29653220|PMID:30675404|PMID:31393079|PMID:31664448|PMID:32513719|PMID:32719652|PMID:475348|PMID:6313869|PMID:7649472|PMID:7728152|PMID:8105684|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8500795|PMID:8510709|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9888385 3359 Pmp22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:7240710 20180919 OMIM 3359 Pmp22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E PMID:10211478|PMID:10330345|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12578939|PMID:12796555|PMID:15474367|PMID:19067730|PMID:20301384|PMID:20453308|PMID:23279344|PMID:25400662|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28374912|PMID:28492532|PMID:28600779|PMID:32719652|PMID:34332267|PMID:7139106|PMID:7829101|PMID:8995589|PMID:9324088|PMID:9544841 3359 Pmp22 peripheral myelin protein 22 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:20301384|PMID:21252112|PMID:21692910|PMID:25741868|PMID:26467025|PMID:28333917|PMID:28492532|PMID:9040737|PMID:9371959|PMID:9712007 3359 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:11125 D RGD:2312445|PMID:8630243 20180503 RGD 3359 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17275665|PMID:17303424|PMID:19427269 3359 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:1358560|PMID:9040744 19990101 RGD DNA:missense mutation:cds:p.G107V (human) 3359 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:1358786|PMID:9409359 19990101 RGD 3359 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:7240710 20130221 OMIM 3359 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10078969|PMID:10093067|PMID:10211478|PMID:10586280|PMID:10632107|PMID:10737979|PMID:10775544|PMID:11081809|PMID:11140841|PMID:11369192|PMID:11545686|PMID:11835375|PMID:12402337|PMID:12497641|PMID:12578939|PMID:12796555|PMID:12901701|PMID:1301995|PMID:1349106|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:15786462|PMID:16199442|PMID:16437560|PMID:1677316|PMID:16922730|PMID:1721895|PMID:17576681|PMID:17620487|PMID:17707409|PMID:17796454|PMID:1822787|PMID:18380017|PMID:18642376|PMID:19067730|PMID:19259128|PMID:19691535|PMID:19830275|PMID:19909487|PMID:20301384|PMID:20453308|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21962505|PMID:22006697|PMID:22131320|PMID:22382358|PMID:22730194|PMID:23224996|PMID:23263778|PMID:23279344|PMID:23313019|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25192979|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26110377|PMID:26392352|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28492532|PMID:28660751|PMID:28748849|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32513719|PMID:32719652|PMID:33933451|PMID:34332267|PMID:3467805|PMID:475348|PMID:7649472|PMID:7728152|PMID:8012365|PMID:8012388|PMID:8105684|PMID:8252046|PMID:8500795|PMID:8615087|PMID:8777804|PMID:8988161|PMID:9040737|PMID:9040744|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9452099|PMID:9536098|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9748013 3359 Pmp22 peripheral myelin protein 22 gene DOID:11446 sciatic neuropathy IEP D RGD:1358785|PMID:1556154 20110425 RGD 3359 Pmp22 peripheral myelin protein 22 gene DOID:12377 spinal muscular atrophy ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:26467025|PMID:28492532 3359 Pmp22 peripheral myelin protein 22 gene DOID:12835 quadriplegia ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 3359 Pmp22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:7240710 20131030 OMIM 3359 Pmp22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guillain-Barre syndrome, familial PMID:12402337|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28981955 3359 Pmp22 peripheral myelin protein 22 gene DOID:12849 autistic disorder ISO RGD:69112 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3359 Pmp22 peripheral myelin protein 22 gene DOID:1389 polyneuropathy ISO RGD:69112 D RGD:1358786|PMID:9409359 19990101 RGD 3359 Pmp22 peripheral myelin protein 22 gene DOID:2477 motor peripheral neuropathy ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17701891 3359 Pmp22 peripheral myelin protein 22 gene DOID:3213 demyelinating disease ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20739560 3359 Pmp22 peripheral myelin protein 22 gene DOID:5419 schizophrenia ISO RGD:69112 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3359 Pmp22 peripheral myelin protein 22 gene DOID:574 peripheral nervous system disease ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12427913|PMID:20739560 3359 Pmp22 peripheral myelin protein 22 gene DOID:574 peripheral nervous system disease ISO RGD:69112 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 3359 Pmp22 peripheral myelin protein 22 gene DOID:630 genetic disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10078969|PMID:10399754|PMID:10775544|PMID:11314784|PMID:12901701|PMID:15285778|PMID:17576681|PMID:20516806|PMID:21149811|PMID:21252112|PMID:21337347|PMID:21840889|PMID:23965407|PMID:25429913|PMID:25741868|PMID:26102530|PMID:26467025|PMID:28286897|PMID:28374912|PMID:28492532|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29653220|PMID:31393079|PMID:32376792|PMID:32719652|PMID:3467805|PMID:7728152|PMID:8275092|PMID:9004143|PMID:9040744|PMID:9187667|PMID:9536098|PMID:9585367|PMID:9888385 3359 Pmp22 peripheral myelin protein 22 gene DOID:870 neuropathy ISO RGD:69112 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 3359 Pmp22 peripheral myelin protein 22 gene DOID:9001745 Fasciculation ISO RGD:69112 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Tongue fasciculations PMID:25741868 3359 Pmp22 peripheral myelin protein 22 gene DOID:9003242 Paresthesia ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 3359 Pmp22 peripheral myelin protein 22 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 3359 Pmp22 peripheral myelin protein 22 gene DOID:9005219 Abnormal Reflexes ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 3359 Pmp22 peripheral myelin protein 22 gene DOID:9005532 Muscle Weakness ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 3359 Pmp22 peripheral myelin protein 22 gene DOID:9007428 Muscle Spasticity ISO RGD:69112 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 3359 Pmp22 peripheral myelin protein 22 gene DOID:9008086 Developmental Disabilities ISO RGD:69112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 3360 Pnlip pancreatic lipase gene DOID:630 genetic disease ISO RGD:734222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3360 Pnlip pancreatic lipase gene DOID:9006405 Pancreatic Lipase Deficiency ISO RGD:734222 D RGD:7240710 20140911 OMIM 3360 Pnlip pancreatic lipase gene DOID:9006405 Pancreatic Lipase Deficiency ISO RGD:734222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic lipase deficiency PMID:24262094|PMID:25741868|PMID:25862608|PMID:28492532 3360 Pnlip pancreatic lipase gene DOID:9970 obesity susceptibility IAGP D RGD:1358859|PMID:15883013 20070420 RGD 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:732850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:10652 Alzheimer's disease onset ISO RGD:732850 D RGD:5130171|PMID:11378842 20110407 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:10763 hypertension IEP D RGD:5130152|PMID:20378607 20110406 RGD protein:decreased activity:adrenal gland (rat) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:10763 hypertension ISO RGD:732850 D RGD:5130164|PMID:14553966 20110406 RGD DNA:snp:5' utr:g.-390G>A (human) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:10763 hypertension no_association ISO RGD:732850 D RGD:5130172|PMID:17645789 20110407 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:2377 multiple sclerosis ISO RGD:732850 D RGD:1358561|PMID:11958827 19990101 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:630 genetic disease ISO RGD:732850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:732850 D RGD:5128821|PMID:21061149 20110318 RGD protein:increased expression:medulla oblongata (human) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:9005166 Contusions IEP D RGD:5129532|PMID:18987458 20110401 RGD mRNA:increased expression:adrenal gland (rat) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5130724|PMID:16396986 20110411 RGD protein:increased expression:adrenal gland (rat) 3361 Pnmt phenylethanolamine-N-methyltransferase gene DOID:9993 hypoglycemia IEP D RGD:5130725|PMID:15494609 20110411 RGD associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) 3362 Pnoc prepronociceptin gene DOID:0060001 withdrawal disorder ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10680585 3362 Pnoc prepronociceptin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 3362 Pnoc prepronociceptin gene DOID:0080855 Parkinsonism ISO RGD:733566 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:26687234 3362 Pnoc prepronociceptin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 3362 Pnoc prepronociceptin gene DOID:630 genetic disease ISO RGD:733566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3362 Pnoc prepronociceptin gene DOID:8927 learning disability ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 3362 Pnoc prepronociceptin gene DOID:9000641 Pain ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19231294 3362 Pnoc prepronociceptin gene DOID:9001579 Neurogenic Inflammation ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11973003 3362 Pnoc prepronociceptin gene DOID:9001600 Wounds and Injuries IEP D RGD:9835019|PMID:11931711 20150313 RGD protein:decreased expression:hypothalamus: 3362 Pnoc prepronociceptin gene DOID:9002211 Hyperalgesia ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12665541|PMID:19231294 3362 Pnoc prepronociceptin gene DOID:9006024 Hypotension ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10794074 3362 Pnoc prepronociceptin gene DOID:9008023 Memory Disorders ISO RGD:733566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 3363 Polb DNA polymerase beta gene DOID:0090039 torsion dystonia 6 ISO RGD:736608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 3363 Polb DNA polymerase beta gene DOID:0111959 immunodeficiency 15B ISO RGD:736608 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 3363 Polb DNA polymerase beta gene DOID:11054 urinary bladder cancer ISO RGD:736608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 3363 Polb DNA polymerase beta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736608 D RGD:2317132|PMID:17230526 20100406 RGD DNA:polymorphisms: :165A>G, 2133T>C (human) 3363 Polb DNA polymerase beta gene DOID:630 genetic disease ISO RGD:736608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3363 Polb DNA polymerase beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 3363 Polb DNA polymerase beta gene DOID:9002928 Colonic Neoplasms ISO RGD:736608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25030372 3363 Polb DNA polymerase beta gene DOID:9004009 Reperfusion Injury IEP D RGD:2302580|PMID:17412650 20100223 RGD protein:increased expression:cerebral cortex 3363 Polb DNA polymerase beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736608 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 3363 Polb DNA polymerase beta gene DOID:9074 systemic lupus erythematosus ISS RGD:736609 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 3366 Pomc proopiomelanocortin gene DOID:0050117 disease by infectious agent ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6088243|PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:0050425 restless legs syndrome ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 3366 Pomc proopiomelanocortin gene DOID:0050562 West syndrome ISO RGD:1352097 D RGD:11554173 20180605 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1324751|PMID:1327015|PMID:1656808|PMID:1965992|PMID:2551692|PMID:2554740|PMID:2853496|PMID:2983143|PMID:6107850|PMID:6143199|PMID:6254450|PMID:6259007|PMID:8381257|PMID:8928979|PMID:8980841|PMID:10908253|PMID:11341487|PMID:17287597|PMID:19039989|PMID:20078871 3366 Pomc proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:5508804|PMID:9145424 20111024 RGD 3366 Pomc proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:5508805|PMID:21741932 20111024 RGD protein:alternative form:large intestine epithelium: alphaMSH 3366 Pomc proopiomelanocortin gene DOID:0050700 cardiomyopathy ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 3366 Pomc proopiomelanocortin gene DOID:0060001 withdrawal disorder ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:225122|PMID:15689546|PMID:15714323|PMID:20738730 3366 Pomc proopiomelanocortin gene DOID:0080784 urinary tract infection ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417|PMID:32435502 3366 Pomc proopiomelanocortin gene DOID:10763 hypertension ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:76749|PMID:187612|PMID:216942|PMID:323586|PMID:1316127|PMID:1321011|PMID:1321309|PMID:1327015|PMID:1330390|PMID:1334993|PMID:1649024|PMID:1664305|PMID:2157753|PMID:2455169|PMID:2551692|PMID:2821097|PMID:2822310|PMID:2849322|PMID:2992854|PMID:3001556|PMID:3015460|PMID:4367732|PMID:6088243|PMID:6089027|PMID:6097376|PMID:6100240|PMID:6135010|PMID:6143199|PMID:6254450|PMID:6274577|PMID:6279500|PMID:6283272|PMID:8136112|PMID:8261660|PMID:8279378|PMID:8713685|PMID:8800598|PMID:9056691|PMID:9535146|PMID:10100081|PMID:10474778|PMID:10513829|PMID:10658937|PMID:11071300|PMID:11071304|PMID:11132610|PMID:11193135|PMID:11518849|PMID:11560123|PMID:11703388|PMID:12872045|PMID:12887135|PMID:15110907|PMID:15132301|PMID:15554453|PMID:16053986|PMID:16243970|PMID:16546835|PMID:16620303|PMID:17324744|PMID:17954371|PMID:17994356|PMID:18067589|PMID:18487447|PMID:19153526|PMID:19458537|PMID:20186125|PMID:20659135 3366 Pomc proopiomelanocortin gene DOID:10914 amnestic disorder ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2841920 3366 Pomc proopiomelanocortin gene DOID:11476 osteoporosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3017235|PMID:4367732|PMID:6143199|PMID:6254450|PMID:19153526 3366 Pomc proopiomelanocortin gene DOID:1156 chondrocalcinosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8035395 3366 Pomc proopiomelanocortin gene DOID:11981 morbid obesity ISO RGD:1352097 D RGD:1357926|PMID:11874690 20070718 RGD 3366 Pomc proopiomelanocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2536513|PMID:2831920|PMID:2853496|PMID:8381257|PMID:8928979 3366 Pomc proopiomelanocortin gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4358912|PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:12679 nephrocalcinosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 3366 Pomc proopiomelanocortin gene DOID:12849 autistic disorder ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 3366 Pomc proopiomelanocortin gene DOID:13580 cholestasis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3421781 3366 Pomc proopiomelanocortin gene DOID:13884 sick sinus syndrome ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19039989 3366 Pomc proopiomelanocortin gene DOID:13934 facial paralysis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:4327920 3366 Pomc proopiomelanocortin gene DOID:150 disease of mental health ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056188 3366 Pomc proopiomelanocortin gene DOID:1529 penile disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1358647|PMID:2825910|PMID:3033702 3366 Pomc proopiomelanocortin gene DOID:1596 depressive disorder ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 3366 Pomc proopiomelanocortin gene DOID:1679 cystitis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1267567 3366 Pomc proopiomelanocortin gene DOID:182 calcinosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 3366 Pomc proopiomelanocortin gene DOID:1826 epilepsy ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20708863 3366 Pomc proopiomelanocortin gene DOID:1909 melanoma ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24412703 3366 Pomc proopiomelanocortin gene DOID:1969 cerebral palsy ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8980841 3366 Pomc proopiomelanocortin gene DOID:2377 multiple sclerosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2843795|PMID:9664777 3366 Pomc proopiomelanocortin gene DOID:26 pancreas disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 3366 Pomc proopiomelanocortin gene DOID:2703 synovitis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8035395 3366 Pomc proopiomelanocortin gene DOID:2843 long QT syndrome ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19931775 3366 Pomc proopiomelanocortin gene DOID:2914 immune system disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6107850 3366 Pomc proopiomelanocortin gene DOID:2921 glomerulonephritis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4368615|PMID:6300362 3366 Pomc proopiomelanocortin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352097 D RGD:28711759|PMID:20651845 20200615 RGD protein:decreased expression:adenohypophysis (human) 3366 Pomc proopiomelanocortin gene DOID:2987 familial Mediterranean fever ISO RGD:1352097 D RGD:5508806|PMID:21428190 20111024 RGD protein: decreassed expression: plasma: ACTH 3366 Pomc proopiomelanocortin gene DOID:3021 acute kidney failure ISO RGD:1352097 D RGD:11554173 20180828 CTD CTD Direct Evidence: therapeutic PMID:17216604 3366 Pomc proopiomelanocortin gene DOID:3312 bipolar disorder ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2843795|PMID:9664777 3366 Pomc proopiomelanocortin gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16809932 3366 Pomc proopiomelanocortin gene DOID:3952 adrenal cortex disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11370731 3366 Pomc proopiomelanocortin gene DOID:437 myasthenia gravis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:4323972 3366 Pomc proopiomelanocortin gene DOID:4450 renal cell carcinoma ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2844640 3366 Pomc proopiomelanocortin gene DOID:4500 hypokalemia ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:323586|PMID:1327015|PMID:4323972|PMID:6254450|PMID:6258369|PMID:6279499|PMID:8035395|PMID:8562174|PMID:10100081 3366 Pomc proopiomelanocortin gene DOID:535 sleep disorder ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 3366 Pomc proopiomelanocortin gene DOID:552 pneumonia ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:557 kidney disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 3366 Pomc proopiomelanocortin gene DOID:5614 eye disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4340068 3366 Pomc proopiomelanocortin gene DOID:576 proteinuria ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4368615 3366 Pomc proopiomelanocortin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1965992 3366 Pomc proopiomelanocortin gene DOID:6000 congestive heart failure ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3026683|PMID:8277081 3366 Pomc proopiomelanocortin gene DOID:630 genetic disease ISO RGD:1352097 D RGD:8554872 20160510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 3366 Pomc proopiomelanocortin gene DOID:77 gastrointestinal system disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 3366 Pomc proopiomelanocortin gene DOID:8398 osteoarthritis ISO RGD:1352097 D RGD:5508809|PMID:21378032 20111024 RGD 3366 Pomc proopiomelanocortin gene DOID:9000197 Edema ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:4327920|PMID:8562174 3366 Pomc proopiomelanocortin gene DOID:9000363 Hematuria ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:1324751 3366 Pomc proopiomelanocortin gene DOID:9000641 Pain ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:4345333|PMID:6094376|PMID:20084599 3366 Pomc proopiomelanocortin gene DOID:9000790 Postoperative Complications ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 3366 Pomc proopiomelanocortin gene DOID:9000972 Fever ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3366 Pomc proopiomelanocortin gene DOID:9001048 Nociceptive Pain ISO RGD:1331975 D RGD:5508807|PMID:21380811 20111024 RGD 3366 Pomc proopiomelanocortin gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1318289 3366 Pomc proopiomelanocortin gene DOID:9001173 ACTH Syndrome, Ectopic ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:2844640|PMID:4367732|PMID:8562174 3366 Pomc proopiomelanocortin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16508911|PMID:16511523 3366 Pomc proopiomelanocortin gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19333140 3366 Pomc proopiomelanocortin gene DOID:9001581 Constipation ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3421781 3366 Pomc proopiomelanocortin gene DOID:9001738 Hypercalciuria ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1324751|PMID:3017235 3366 Pomc proopiomelanocortin gene DOID:9001981 Weight Loss ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:11193135 3366 Pomc proopiomelanocortin gene DOID:9002315 Kidney Calculi ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 3366 Pomc proopiomelanocortin gene DOID:9002669 Hypoxia ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11311734|PMID:24412703 3366 Pomc proopiomelanocortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:9002801 Recurrence ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20078871 3366 Pomc proopiomelanocortin gene DOID:9002916 Hyperphagia ISO RGD:1352097 D RGD:1357925|PMID:15189116 20070718 RGD DNA:mutations:multiple (human) 3366 Pomc proopiomelanocortin gene DOID:9003049 Femur Head Necrosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4326745 3366 Pomc proopiomelanocortin gene DOID:9003122 Rhabdomyoma ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 3366 Pomc proopiomelanocortin gene DOID:9003194 Eye Pain ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4327920 3366 Pomc proopiomelanocortin gene DOID:9003805 Catalepsy ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2999739|PMID:6329457 3366 Pomc proopiomelanocortin gene DOID:9003936 Cardiomegaly ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1965992|PMID:2821097|PMID:6088243|PMID:8279378|PMID:8381257|PMID:19039989 3366 Pomc proopiomelanocortin gene DOID:9004507 Hirsutism ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 3366 Pomc proopiomelanocortin gene DOID:9004590 Acute Liver Failure ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15313186 3366 Pomc proopiomelanocortin gene DOID:9004657 Weight Gain ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4367732|PMID:6143199 3366 Pomc proopiomelanocortin gene DOID:9004751 Nausea ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11141589 3366 Pomc proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: Proopiomelanocortin deficiency PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:18765507|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:9620771 3366 Pomc proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency susceptibility ISO RGD:1352097 D RGD:7240710 20230517 OMIM 3366 Pomc proopiomelanocortin gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6088243 3366 Pomc proopiomelanocortin gene DOID:9005158 Cushing Syndrome ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6088243|PMID:19153526 3366 Pomc proopiomelanocortin gene DOID:9005253 Hypernatremia ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6279499|PMID:10100081 3366 Pomc proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:5508803|PMID:2550304 20111024 RGD Protein:::alphaMSH[11-13] 3366 Pomc proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:5508808|PMID:21378282 20111024 RGD protein: increased expression 3366 Pomc proopiomelanocortin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11750770|PMID:16520439|PMID:18201294|PMID:19279569 3366 Pomc proopiomelanocortin gene DOID:9005749 Necrosis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 3366 Pomc proopiomelanocortin gene DOID:9006024 Hypotension ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:2636709 3366 Pomc proopiomelanocortin gene DOID:9006570 Sacroiliitis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19533139 3366 Pomc proopiomelanocortin gene DOID:9007001 Bradycardia ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2636709|PMID:19039989 3366 Pomc proopiomelanocortin gene DOID:9007102 Myocardial Ischemia ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 3366 Pomc proopiomelanocortin gene DOID:9007590 Gouty Arthritis ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8035395 3366 Pomc proopiomelanocortin gene DOID:9007633 Body Weight ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1316127 3366 Pomc proopiomelanocortin gene DOID:9007730 Burns ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2968671 3366 Pomc proopiomelanocortin gene DOID:9008217 Hemorrhage ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:3014908 3366 Pomc proopiomelanocortin gene DOID:9008622 Adrenal Insufficiency ISO RGD:1352097 D RGD:1357926|PMID:11874690 20070718 RGD 3366 Pomc proopiomelanocortin gene DOID:9008760 Oliguria ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 3366 Pomc proopiomelanocortin gene DOID:9009050 Hypocalcemia ISO RGD:1352097 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 3366 Pomc proopiomelanocortin gene DOID:9351 diabetes mellitus ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19153526 3366 Pomc proopiomelanocortin gene DOID:9409 diabetes insipidus ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6258694 3366 Pomc proopiomelanocortin gene DOID:9452 fatty liver disease ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:167377 3366 Pomc proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289378|PMID:19153526 3366 Pomc proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:1357925|PMID:15189116 20070718 RGD DNA:mutations:multiple (human) 3366 Pomc proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:25741868|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 3366 Pomc proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 3366 Pomc proopiomelanocortin gene DOID:9970 obesity susceptibility ISO RGD:1352097 D RGD:7240710 20230517 OMIM 3366 Pomc proopiomelanocortin gene DOID:9976 heroin dependence ISO RGD:1352097 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:732450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9392392 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:28492532 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:53 pituitary gland disease ISO RGD:732450 D RGD:1601432|PMID:1302000 20070420 RGD combined piuitary hormone deficiency;DNA:point mutation:exon:R172X 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:732450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30266296 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:732450 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:28492532 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:7240710 20130221 OMIM 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:11297581|PMID:11924936|PMID:12629113|PMID:1271194|PMID:12904605|PMID:1302000|PMID:1472057|PMID:1509262|PMID:1509263|PMID:15928241|PMID:16968807|PMID:25741868|PMID:2634610|PMID:26467025|PMID:27541381|PMID:28492532|PMID:7670563|PMID:7721104|PMID:7833912|PMID:8768831|PMID:9392392|PMID:9588494|PMID:9626142 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:9255 frontotemporal dementia ISO RGD:732450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 3367 Pou1f1 POU class 1 homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:732450 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:28492532 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:0060180 colitis susceptibility ISO RGD:732638 D RGD:5509936|PMID:20650341 20111114 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080000 muscular disease ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603006 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:732638 D RGD:14747028|PMID:31211621 20190911 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737309 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:1059 intellectual disability ISO RGD:737309 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:737309 D RGD:5561899|PMID:12938026 20111123 RGD DNA:SNP:CDS:rs1800206, p.L162V (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:737309 D RGD:5561928|PMID:17850927 20111123 RGD No association found for any polymorphisms of PPARA, including rs1800206 (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension IEP D RGD:2313778|PMID:19763017 20091014 RGD mRNA:increased expression:skeletal muscle 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16054168|PMID:19834340 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension treatment IMP D RGD:1580222|PMID:15967866 19990101 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:10908 hydrocephalus IEP D RGD:1624238|PMID:15964663 20111129 RGD mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:1168 familial hyperlipidemia ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21640707 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:12556 acute kidney tubular necrosis ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19834340 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:14566 disease of cellular proliferation ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17405874 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:1485 cystic fibrosis ISO RGD:737309 D RGD:5683626|PMID:16875506 20111129 RGD mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:305 carcinoma ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:3146 lipid metabolism disorder ISO RGD:737309 D RGD:1580230|PMID:10828087 19990101 RGD DNA:missense mutation:cds:p.L162V (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:732638 D RGD:5509940|PMID:21633371 20111114 RGD potential therapeutic target with or without glucocorticoid therapy (mouse) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:3393 coronary artery disease susceptibility ISO RGD:737309 D RGD:1580228|PMID:16043164 19990101 RGD DNA:snp:intron: (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:732638 D RGD:5563035|PMID:17888025 20111123 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:5419 schizophrenia ISS RGD:732638 D RGD:13592920 20211125 MouseDO OMIM:181500 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:557 kidney disease ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316343 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:576 proteinuria ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16054168 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:5844 myocardial infarction ISO RGD:737309 D RGD:5562819|PMID:18549840 20111123 RGD DNA:SNP:intron:rs4253623, minor allele associated with increased risk (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:630 genetic disease ISO RGD:737309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility IAGP D RGD:15042881|PMID:19119483 20191213 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:783 end stage renal disease ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:824 periodontitis IDA D RGD:5509938|PMID:21253492 20111114 RGD possible therapeutic target 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:8778 Crohn's disease ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9000998 Brain Injuries IDA D RGD:5508455|PMID:18562561 20111123 RGD agonist more effective in combination with simvastatin 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:732638 D RGD:5683636|PMID:15382117 20111129 RGD DNA:knockout::increased severity in knockouts (mouse) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17261635 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002906 Multiple Organ Failure severity ISO RGD:732638 D RGD:5683625|PMID:17047518 20111129 RGD associated with Drug Toxicity (CTD:0005347), Zymosan (CHEBI:37671); DNA:knockout::knockout increases severity (mouse) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9003234 Hypertensive Nephropathy IDA D RGD:5509943|PMID:20671072 20111114 RGD Strain: SHRSP 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16168052 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9003936 Cardiomegaly ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22198280 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury IDA D RGD:5509942|PMID:21305343 20111114 RGD liver ischemia/reperfusion injury 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19151258 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C IEP D RGD:5683635|PMID:15685545 20191211 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:737309 D RGD:5683635|PMID:15685545 20111129 RGD mRNA, protein:decreased expression:liver hepatocytes (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:732638 D RGD:5562037|PMID:22089192 20111123 RGD DNA:knockout::associated with more severe disease (mouse) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737309 D RGD:1580229|PMID:11864924 19990101 RGD DNA:snp:intron: (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005369 Hepatomegaly ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14982965 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005372 Inflammation ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21300114 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:14563825|PMID:23090186 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:737309 D RGD:8554872 20150721 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to PMID:10828087|PMID:12006394|PMID:15309680 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006945 Diabetic Cardiomyopathies IDA D RGD:5509944|PMID:19317897 20111114 RGD Strain: ZDF 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:737309 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:20143881|PMID:29134746 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007346 Cachexia ISO RGD:737309 D RGD:5683621|PMID:17459894 20111129 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA:decreased expression:skeletal muscle (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732638 D RGD:5509941|PMID:21262334 20111114 RGD LPS-induced acute liver damage 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24385052 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10828087 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:732638 D RGD:5683642|PMID:19322024 20111129 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21324916 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16411023 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9351 diabetes mellitus ISS RGD:732638 D RGD:13592920 20180518 MouseDO 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:737309 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17317762|PMID:31626838 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9427 hypertensive encephalopathy IDA D RGD:5509943|PMID:20671072 20111114 RGD Strain: SHRSP 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease IEP D RGD:15042851|PMID:16393287 20191211 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:732638 D RGD:5509939|PMID:21929649 20111114 RGD associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 fatty liver disease ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19124612 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:732638 D RGD:2313779|PMID:19472040 20091014 RGD 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9970 obesity ISO RGD:737309 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:11089532|PMID:30738174 3369 Ppara peroxisome proliferator activated receptor alpha gene DOID:9993 hypoglycemia ISO RGD:737309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16777972 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:0050553 JMP syndrome ISO RGD:736289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:0050700 cardiomyopathy ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736289 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574099|PMID:29289645 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:12858 Huntington's disease ISS RGD:731946 D RGD:13592920 20180518 MouseDO OMIM:143100 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:1793 pancreatic cancer ISO RGD:731946 D RGD:9068941 20200609 RGD PMID:17652168|REF_RGD_ID:2324872 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736289|RGD:731946 D RGD:2324872|PMID:17652168 20100513 RGD 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:1909 melanoma ISO RGD:736289 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:28962521 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:4607 biliary tract cancer ISO RGD:736289 D RGD:2324871|PMID:18497548 20100513 RGD 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:574 peripheral nervous system disease ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405|PMID:21245421 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:630 genetic disease ISO RGD:736289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2324875|PMID:20058304 20100513 RGD 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736289 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27765815 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9003936 Cardiomegaly IDA D RGD:1580656|PMID:15728586 20150323 RGD 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9004464 Skin Neoplasms ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19748995|PMID:21159610 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9004657 Weight Gain ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20176998 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9004713 Acute-Phase Reaction IDA D RGD:2324886|PMID:17461989 20100514 RGD 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313781|PMID:18573863 20091014 RGD mRNA, protein:decreased expression:heart 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9007692 Insulin Resistance ISO RGD:731946 D RGD:2313780|PMID:19818749 20091014 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9007692 Insulin Resistance ISO RGD:731946 D RGD:2324897|PMID:14676330 20100514 RGD associated with Obesity 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2324876|PMID:19997057 20100513 RGD 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:736289 D RGD:1625186|PMID:16804087 20070528 RGD DNA:SNPs 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9352 type 2 diabetes mellitus ISS RGD:731946 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9452 fatty liver disease ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23851158 3370 Ppard peroxisome proliferator-activated receptor delta gene DOID:9970 obesity ISO RGD:736289 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:20176998 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0014667 disease of metabolism ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19589179 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0050850 diabetic encephalopathy treatment IEP D RGD:8553040|PMID:24291733 20140505 RGD associated with Diabetes Mellitus, Experimental 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0050851 glomerulosclerosis treatment IDA D RGD:8553043|PMID:11318962 20140505 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69168 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:69169 D RGD:13592920 20180518 MouseDO 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:7240710 20180912 OMIM 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:11788685|PMID:12453919|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:17299075|PMID:17356052|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69168 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0080322 polycystic kidney disease treatment IDA D RGD:14701037|PMID:21147840 20190904 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0080600 COVID-19 ISO RGD:69168 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:69168 D RGD:8552818|PMID:14588098 20140429 RGD mRNA:increased expression:orbital fat (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17255338 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:0111136 congenital generalized lipodystrophy type 2 ISS RGD:69169 D RGD:13592920 20180518 MouseDO OMIM:269700 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:1580687|PMID:15562025 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10652 Alzheimer's disease ISO RGD:69168 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:15993441|PMID:16407166|PMID:30328325 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10652 Alzheimer's disease no_association ISO RGD:69168 D RGD:2301852|PMID:18573313 20081104 RGD DNA:SNPs: :multiple (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69168 D RGD:2311642|PMID:17440948 20151203 RGD DNA:SNP:cds:p.P12A(human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1074 kidney failure ISO RGD:69168 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10763 hypertension IDA D RGD:1580684|PMID:15970297 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10763 hypertension IEP D RGD:7175297|PMID:20404217 20140505 RGD protein:decreased expression:rostral ventrolateral medulla (rat) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10763 hypertension IMP D RGD:2301888|PMID:18437150 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15199296|PMID:19666838|PMID:27292124 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:1580690|PMID:12923396 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:2301864|PMID:18316027 20081105 RGD human gene in a mouse model 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:11054 urinary bladder cancer IEP D RGD:2301870|PMID:18712722 20081105 RGD protein:decreased expression:urinary bladder 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:11382 corneal neovascularization treatment ISO RGD:69169 D RGD:8552895|PMID:17625041 20140430 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:11613 hyperandrogenism IEP D RGD:8553031|PMID:20813360 20140505 RGD mRNA, protein:increased expression:ovary follicle (rat) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:11981 morbid obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Morbid obesity PMID:10690291|PMID:25157153|PMID:28492532|PMID:9753710 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:69168 D RGD:2301860|PMID:18417957 20081104 RGD associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:12935 alcoholic cardiomyopathy IEP D RGD:2301868|PMID:18783396 20081105 RGD protein:increased expression:heart myocardium 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:12986 leukostasis ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12468449 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy onset ISO RGD:69168 D RGD:2301854|PMID:18541841 20081104 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:8552820|PMID:23559865 20140429 RGD DNA:snp:cds:p.P12A (rs1801282) (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:8699508|PMID:19125195 20140813 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:14557 primary pulmonary hypertension ISS RGD:69169 D RGD:13592920 20180518 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1520 colon carcinoma ISO RGD:69168 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10394368 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1561 cognitive disorder susceptibility ISO RGD:69168 D RGD:2301850|PMID:18639367 20081105 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11034103|PMID:11741176 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:2317462|PMID:19152448 20100406 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69168 D RGD:2317460|PMID:19436234 20100406 RGD DNA:polymorphism: :p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1909 melanoma ISO RGD:69168 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14512786|PMID:28962521 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18269830 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69169 D RGD:8552894|PMID:15779851 20140430 RGD protein:increased expression:aortic sinus, endothelium (mouse) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:219 colon cancer ISO RGD:69168 D RGD:1601444|PMID:10394368 20070420 RGD DNA:frameshift mutation:c.472delA (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:224 transient cerebral ischemia IEP D RGD:2301866|PMID:18973594 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:224 transient cerebral ischemia IMP D RGD:2301892|PMID:18378216 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:224 transient cerebral ischemia IMP D RGD:8553032|PMID:19221220 20140505 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:2349 arteriosclerosis treatment IDA D RGD:8553041|PMID:15967870 20140505 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:2921 glomerulonephritis ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11318962 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:2988 antiphospholipid syndrome ISO RGD:69168 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:299 adenocarcinoma ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11034103 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3021 acute kidney failure ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20623750|PMID:24011919|PMID:24433871 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3021 acute kidney failure treatment IDA D RGD:8553020|PMID:17494862 20140502 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3068 glioblastoma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3070 high grade glioma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:326 ischemia ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24433871 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3393 coronary artery disease ISO RGD:69168 D RGD:8552814|PMID:21709632 20140429 RGD protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3407 carotid artery disease ISO RGD:69168 D RGD:1580688|PMID:15284449 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69168 D RGD:2317461|PMID:19396032 20100406 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16809932 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:4989 pancreatitis IMP D RGD:2301875|PMID:18583255 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:6000 congestive heart failure ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:630 genetic disease ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:684 hepatocellular carcinoma ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16374840 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:684 hepatocellular carcinoma severity ISO RGD:69168 D RGD:14694822|PMID:27451128 20190617 RGD protein:decreased expression:liver 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:783 end stage renal disease disease_progression ISO RGD:69168 D RGD:2301857|PMID:18467141 20081104 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:811 lipodystrophy ISO RGD:69168 D RGD:1601445|PMID:10622252 20070420 RGD FPLD3,OMIM:604367;DNA:point mutation:exon:P467L 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:811 lipodystrophy ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:8398 osteoarthritis ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:8778 Crohn's disease ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:8893 psoriasis ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10815854 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:8947 diabetic retinopathy ISO RGD:69169 D RGD:8552824|PMID:17003451 20140429 RGD Retinal Leukostasis;associated with Diabetes Mellitus, Experimental 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20210794 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:69168 D RGD:2317459|PMID:20021832 20100406 RGD associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000173 Eye Burns IEP D RGD:8552904|PMID:24194635 20140430 RGD protein:increased expression:cornea, neutrophil, macrophage (rat) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:19140230 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69168 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000641 Pain IMP D RGD:2301890|PMID:18387855 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000784 Fibrosis IMP D RGD:2301893|PMID:18360056 20081105 RGD associated with Hypertension 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:69169 D RGD:2301856|PMID:18511847 20081104 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:2301874|PMID:18594976 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:8553190|PMID:22529699 20140507 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69168 D RGD:13208600|PMID:16221712 20170814 RGD protein:increased expression:kidney: 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002165 Diabetic Nephropathies IMP D RGD:2301862|PMID:18388116 20081105 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69168 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69169 D RGD:2301845|PMID:18780770 20081104 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002231 Fetal Growth Retardation IEP D RGD:8552971|PMID:21425435 20140501 RGD mRNA:decreased expression:lung (rat) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:8553039|PMID:15167281 20140505 RGD protein:increased expression:myocardium (rat) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69169 D RGD:2301844|PMID:18806296 20140429 RGD protein:decreased expression:retina (mouse) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20540935 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9002955 Nerve Degeneration ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18289512 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9003370 Dyslipidemias ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16168052 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69168 D RGD:8552811|PMID:17116814 20140429 RGD mRNA, protein:increased expression:nasal mucosa (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9004009 Reperfusion Injury ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24011919|PMID:24433871 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9004547 Thyroid Neoplasms ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15785241 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9004610 Acute Lung Injury IEP D RGD:8553030|PMID:16083301 20140505 RGD protein:decreased expression:lung (rat) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21153920 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:2301893|PMID:18360056 20081105 RGD associated with Hypertension 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9004980 Chronobiology Disorders ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22899986 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005372 Inflammation IMP D RGD:2301881|PMID:18479673 20081105 RGD associated with Brain Injuries 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005372 Inflammation IMP D RGD:2301886|PMID:18455351 20081105 RGD associated with Status Epilepticus 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19926821|PMID:21354099 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2301849|PMID:18641696 20081104 RGD mRNA:altered expression:aorta, kidney cortex, retina 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:16123366|PMID:21757225 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69169 D RGD:2301844|PMID:18806296 20081104 RGD protein:decreased expression:retina 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:7240710 20130221 OMIM 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Carotid intimal medial thickness 1 PMID:25741868|PMID:27749844 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9005930 Endotoxemia IEP D RGD:5135029|PMID:21641970 20120322 RGD protein:increased expression:small intestine mucosa 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:69169 D RGD:8553019|PMID:19339015 20140502 RGD mouse gene in a rat model 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9006447 Eye Injuries treatment ISO RGD:69169 D RGD:8552893|PMID:18658087 20140430 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9006646 Metabolic Syndrome IDA D RGD:1580683|PMID:16183630 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:69168 D RGD:1580686|PMID:16186413 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9006646 Metabolic Syndrome no_association ISO RGD:69168 D RGD:2301843|PMID:18959602 20081104 RGD DNA:SNP: :p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9007188 Liver Neoplasms ISO RGD:69168 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:20143881 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69169 D RGD:11554658|PMID:26599535 20190617 RGD mRNA, protein:decreased expression:liver 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21354099|PMID:21484566 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:1601446|PMID:12118251 20070420 RGD DNA:nonsense mutation 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69169 D RGD:2301853|PMID:18562925 20081104 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16489531 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9074 systemic lupus erythematosus ISS RGD:69169 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9206 Barrett's esophagus ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9351 diabetes mellitus ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16168052 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9351 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15592662|PMID:16123366|PMID:16249460|PMID:17317762|PMID:21484566|PMID:28182703|PMID:31626838 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:2301861|PMID:18394743 20081105 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:7240710 20130221 OMIM 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69169 D RGD:2301846|PMID:18776709 20081104 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69168 D RGD:8552822|PMID:9918859 20140429 RGD DNA:snp:cds:p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69168 D RGD:2301851|PMID:18598350 20081104 RGD DNA:polymorphism: :p.P12A (human) 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9452 fatty liver disease IEP D RGD:1580685|PMID:15112352 19990101 RGD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9455 lipid storage disease ISO RGD:69168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity IEP D RGD:2301884|PMID:18457007 20081105 RGD mRNA:increased expression:adipose tissue 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:11089532|PMID:28242765 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:1331525|PMID:15118671 19990101 GAD 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:1601443|PMID:9753710 20070420 RGD DNA:point mutation:exon:P115Q 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:7240710 20130221 OMIM 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity ISO RGD:69169 D RGD:2301859|PMID:18427128 20081104 RGD mRNA:decreased expression:retroperitoneal fat pad 3371 Pparg peroxisome proliferator-activated receptor gamma gene DOID:9970 obesity susceptibility ISO RGD:69168 D RGD:2301847|PMID:18683148 20081104 RGD DNA:polymorphism 3372 Ppia peptidylprolyl isomerase A gene DOID:10763 hypertension ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:alveolar system (human) PMID:32496587|REF_RGD_ID:150383342 3372 Ppia peptidylprolyl isomerase A gene DOID:12506 Bell's palsy exacerbates ISO RGD:731273 D RGD:150429625|PMID:32149981 20210910 RGD protein:increased expression:blood serum (human) 3372 Ppia peptidylprolyl isomerase A gene DOID:1474 aggressive periodontitis ISO RGD:731273 D RGD:150429628|PMID:27176139 20210910 RGD protein:increased expression:gingiva (human) 3372 Ppia peptidylprolyl isomerase A gene DOID:1749 squamous cell carcinoma ISO RGD:731273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 3372 Ppia peptidylprolyl isomerase A gene DOID:1826 epilepsy IDA D RGD:4890972|PMID:20626060 20101228 RGD 3372 Ppia peptidylprolyl isomerase A gene DOID:1883 hepatitis C ameliorates ISO RGD:11131 D RGD:150429630|PMID:23903655 20210910 RGD 3372 Ppia peptidylprolyl isomerase A gene DOID:3310 atopic dermatitis ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin (human) PMID:32496587|REF_RGD_ID:150383342 3372 Ppia peptidylprolyl isomerase A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 3372 Ppia peptidylprolyl isomerase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731273 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3372 Ppia peptidylprolyl isomerase A gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:731273 D RGD:150429623|PMID:21871105 20210910 RGD human cell line and construct in a mouse model 3372 Ppia peptidylprolyl isomerase A gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:731273 D RGD:150383341|PMID:17590083 20210901 RGD DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) 3372 Ppia peptidylprolyl isomerase A gene DOID:649 prion disease exacerbates ISO RGD:11131 D RGD:150383343|PMID:31181281 20210901 RGD 3372 Ppia peptidylprolyl isomerase A gene DOID:9000217 Stomach Neoplasms ISO RGD:731273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 3372 Ppia peptidylprolyl isomerase A gene DOID:9000371 influenza A ameliorates ISO RGD:731273 D RGD:150429624|PMID:27354005 20210910 RGD human gene in a mouse model 3372 Ppia peptidylprolyl isomerase A gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:11131 D RGD:150429627|PMID:22446162 20210910 RGD associated with Coxsackievirus Infections 3372 Ppia peptidylprolyl isomerase A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 3372 Ppia peptidylprolyl isomerase A gene DOID:9004484 Sepsis treatment ISO RGD:11131 D RGD:150429626|PMID:29680745 20210910 RGD 3372 Ppia peptidylprolyl isomerase A gene DOID:9007364 Mouth Neoplasms ISO RGD:731273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 3372 Ppia peptidylprolyl isomerase A gene DOID:9008225 Respirovirus Infections exacerbates ISO RGD:11131 D RGD:150429629|PMID:28594325 20210910 RGD 3372 Ppia peptidylprolyl isomerase A gene DOID:9261 nasopharynx carcinoma ISO RGD:731273 D RGD:150429622|PMID:31063269 20210910 RGD mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) 3372 Ppia peptidylprolyl isomerase A gene DOID:9970 obesity ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:32496587|REF_RGD_ID:150383342 3373 Ppm1a protein phosphatase, Mg2+/Mn2+ dependent, 1A gene DOID:630 genetic disease ISO RGD:731572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3374 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:733846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 3374 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B gene DOID:3883 Lynch syndrome ISO RGD:733846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 3374 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B gene DOID:630 genetic disease ISO RGD:733846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3374 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:733846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3375 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:1059 intellectual disability ISO RGD:732541 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3375 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11132 D RGD:737728|PMID:12024026 19990101 RGD 3375 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:11132 D RGD:737728|PMID:12024026 19990101 RGD 3375 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:732541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3375 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 3375 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 3376 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:7240710 20190315 OMIM 3376 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 PMID:24033266|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:31474318|PMID:33333793|PMID:33491856 3376 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 3376 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 3376 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:3490 Noonan syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 3376 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:30577886|PMID:31474318|PMID:33333793|PMID:33491856|PMID:9536098 3377 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:6000 congestive heart failure IEP D RGD:11526267|PMID:26668322 20180327 RGD protein:increased expression:heart, membrane 3377 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:734001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3377 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13514047|PMID:29033188 20180322 RGD protein:increased expression:spinal cord, astrocyte, microglial cell 3377 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:9002762 Ovarian Neoplasms ISO RGD:734001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:735585 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) (human) 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:735585 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:114 heart disease ISO RGD:735585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15247211 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:14330 Parkinson's disease ISO RGD:735585 D RGD:8693390|PMID:24395787 20140714 RGD protein:decreased tyrosine phosphorylation:brain (human) 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:2841 asthma ISO RGD:735585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22205926 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:735585 D RGD:8693707|PMID:14567976 20140718 RGD mRNA:increased expression:vastus lateralis muscle (human) 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:8693574|PMID:2562181 20140716 RGD mRNA:increased expression:liver (rat) 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9002211 Hyperalgesia IMP D RGD:11572421|PMID:26732138 20180404 RGD 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735585 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:7240710 20190424 OMIM 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities PMID:25741868|PMID:28333917|PMID:28492532|PMID:29051493|PMID:30595372 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3380 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9352 type 2 diabetes mellitus IEP D RGD:8693665|PMID:22087313 20140717 RGD mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) 3381 Ppp2cb protein phosphatase 2 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:736927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:7240710 20190315 OMIM 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 1 PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30904718|PMID:32238909|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402|PMID:9536098 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:12858 Huntington's disease ISO RGD:11134 D RGD:6483320|PMID:19733666 20120516 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISS RGD:11134 D RGD:13592920 20180518 MouseDO 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730900 D RGD:13515117|PMID:26436650 20180405 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:1826 epilepsy ISO RGD:730900 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25262651|PMID:25741868|PMID:28942967|PMID:29432562 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease ISO RGD:730900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785681 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease treatment ISO RGD:11134 D RGD:13515119|PMID:17785681 20180405 RGD associated with Cadmium Poisoning 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:3633 beta-mannosidosis ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:730900 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:4001 ovarian carcinoma ISO RGD:730900 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730900 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:4989 pancreatitis ISO RGD:730900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:5419 schizophrenia ISO RGD:730900 D RGD:13515121|PMID:15820226 20180409 RGD mRNA:decreased expression:brain 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:557 kidney disease IEP D RGD:11537650|PMID:27009276 20180405 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:893 Wilson disease ISO RGD:730900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries IEP D RGD:6483311|PMID:19751097 20120516 RGD protein: :hippocampus 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:730900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:7240710 20190315 OMIM 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development PMID:25741868|PMID:28492532|PMID:29432562|PMID:30904718 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:11134 D RGD:734902|PMID:12515860 19990101 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9004009 Reperfusion Injury IDA D RGD:1580702|PMID:14762344 19990101 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11134 D RGD:1579956|PMID:9568714 19990101 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9005141 Ventricular Tachycardia ISO RGD:11134 D RGD:1580701|PMID:15537502 19990101 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:1580700|PMID:16799071 19990101 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11134 D RGD:1579956|PMID:9568714 19990101 RGD 3382 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9008582 Developmental Disease ISO RGD:730900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733965 D RGD:13515117|PMID:26436650 20180405 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:1712 aortic valve stenosis ISO RGD:733965 D RGD:1580704|PMID:15533858 19990101 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia IEP D RGD:13515120|PMID:29214423 20180405 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:733965 D RGD:13515121|PMID:15820226 20180409 RGD mRNA:decreased expression:brain 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:733965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:893 Wilson disease ISO RGD:733965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9004009 Reperfusion Injury ISO RGD:11135 D RGD:1580705|PMID:14615291 19990101 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11135 D RGD:1579956|PMID:9568714 19990101 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733965 D RGD:1580706|PMID:16688406 19990101 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:1580703|PMID:16496058 19990101 RGD 3383 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11135 D RGD:1579956|PMID:9568714 19990101 RGD 3385 Ppy pancreatic polypeptide gene DOID:630 genetic disease ISO RGD:737129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732865 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:10603 glucose intolerance ISO RGD:732865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:1550489 D RGD:6484534|PMID:21768291 20120621 RGD protein:increased phosphorylation, altered localization:nucleus 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:732865 D RGD:6484534|PMID:21768291 20120621 RGD protein:altered localization:nucleus 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13580 cholestasis treatment IEP D RGD:15090804|PMID:27090119 20200103 RGD mRNA:altered expression:liver (rat) 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:732865 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:732865 D RGD:6484541|PMID:22562547 20120622 RGD DNA:SNP: :rs10074991 (human) 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:219 colon cancer ISO RGD:732865 D RGD:5685669|PMID:20622004 20120622 RGD 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732865 D RGD:150404268|PMID:23632475 20210903 RGD human cells in mouse model 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:732865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002661 Diabetes Complications IDA D RGD:6484542|PMID:21548839 20120622 RGD associated with Diabetes Mellitus, Experimental 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1550489 D RGD:6484540|PMID:19486896 20120622 RGD 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732865 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1550489 D RGD:6484539|PMID:21595935 20120622 RGD 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9005930 Endotoxemia ISO RGD:1550489 D RGD:6484543|PMID:20421294 20120622 RGD mRNA:decreased expression:epididymal fat pad 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance IDA D RGD:6484545|PMID:22231922 20120622 RGD associated with Obesity 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:732865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9008114 Helicobacter Infections ISO RGD:732865 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus IMP D RGD:2316808|PMID:20054491 20100224 RGD 3387 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9452 fatty liver disease ISO RGD:1550489 D RGD:6484544|PMID:19162361 20120622 RGD 3388 Prkag1 protein kinase AMP-activated non-catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:734389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0050891 adrenal cortical adenoma ISO RGD:1344608 D RGD:13515122|PMID:24855271 20180409 RGD associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080182 mixed fibrolamellar hepatocellular carcinoma susceptibility ISO RGD:1552640 D RGD:151347843|PMID:28923495 20220203 RGD 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344608 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:2316 brain ischemia IEP D RGD:7327190|PMID:12150772 20130916 RGD protein:decreased expression:hippocampus, cerebral cortex, nucleus 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:4947 cholangiocarcinoma ISO RGD:1344608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:5015 fibrolamellar carcinoma ISO RGD:1344608 D RGD:151347845|PMID:27027723 20220203 RGD mRNA,protein:increased expression:liver (human) 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:1344608 D RGD:1580714|PMID:10830164 19990101 RGD 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:1344608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:7327191|PMID:7769990 20130916 RGD 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344608 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:7240710 20210113 OMIM 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 PMID:25741868|PMID:33058759 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:7240710 20150304 OMIM 3389 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:8554872 20150303 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4 PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27825928 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:7240710 20130221 OMIM 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:10973256|PMID:10974026|PMID:11115848|PMID:12213893|PMID:12424709|PMID:12950501|PMID:15371594|PMID:15992699|PMID:16199547|PMID:16569736|PMID:17396442|PMID:17576681|PMID:18056771|PMID:18223213|PMID:18241045|PMID:18445140|PMID:19265501|PMID:19293268|PMID:20358582|PMID:20924687|PMID:21047926|PMID:21651393|PMID:21850686|PMID:21900385|PMID:22112814|PMID:22259056|PMID:22341669|PMID:22464250|PMID:22464252|PMID:22785148|PMID:23043190|PMID:23425300|PMID:23942052|PMID:24033266|PMID:24170103|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26354069|PMID:26405036|PMID:26822237|PMID:27589370|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28255981|PMID:28492532|PMID:28640241|PMID:28804209|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:735732 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237|PMID:28492532 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060280 primary pigmented nodular adrenocortical disease ISS RGD:735733 D RGD:13592920 20180518 MouseDO OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17712046 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0080074 neural tube defect ISO RGD:735732 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Neural tube defect 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:735732 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28492532|PMID:32246227 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:735732 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:14669 acrodysostosis ISO RGD:735732 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27825928 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:14669 acrodysostosis ISO RGD:735732 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:3962 thyroid gland follicular carcinoma ISS RGD:735733 D RGD:13592920 20180518 MouseDO OMIM:188470 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4195 hyperglycemia ISO RGD:735732 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:735732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:735732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:767 muscular atrophy ISO RGD:735732 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:7240710 20140903 OMIM 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance PMID:11200992|PMID:21651393|PMID:22464250|PMID:22464252|PMID:23043190|PMID:23425300|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28051113|PMID:28492532|PMID:28804209|PMID:29264456|PMID:32443704 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9003253 Myxoma ISO RGD:735732 D RGD:1581267|PMID:10973256 19990101 RGD 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:15521956|PMID:29367455 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:1581269|PMID:12213893 19990101 RGD 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:735732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:28492532|PMID:33300174|PMID:36317447 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:7240710 20130221 OMIM 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1 PMID:12213893|PMID:17576681|PMID:21651393|PMID:22464250|PMID:23043190|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28492532|PMID:28804209|PMID:9536098 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:735732 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:12203783|PMID:14500362 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:9536098 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007692 Insulin Resistance ISO RGD:735732 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:7240710 20130221 OMIM 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial myxoma PMID:10973256|PMID:1263542 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:987 alopecia ISO RGD:735732 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 3391 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9970 obesity ISO RGD:735732 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868|PMID:28492532|PMID:29363216 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:10763 hypertension ISO RGD:11140 D RGD:619653|PMID:11161799 19990101 RGD 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1351287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9000495 Tremor IMP D RGD:150519900|PMID:33479380 20211021 RGD 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:7240710 20220209 OMIM 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Marbach-Schaaf neurodevelopmental syndrome PMID:25741868|PMID:33833410 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351287 D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: PRKAR1B-related neurodevelopmental disorder PMID:25741868|PMID:33833410 3392 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532 3393 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:6000 congestive heart failure ISO RGD:732434 D RGD:1580714|PMID:10830164 19990101 RGD 3393 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:732434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3393 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732434 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 3393 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 3394 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:2999 granulosa cell tumor ISO RGD:735310 D RGD:2289157|PMID:11994539 20080422 RGD 3394 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735310 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3394 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:6000 congestive heart failure ISO RGD:735310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 3394 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:630 genetic disease ISO RGD:735310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3394 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:9970 obesity ISO RGD:735310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 3395 Prkca protein kinase C, alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:737062 D RGD:2292458|PMID:15454252 20080418 RGD protein:decreased expression:breast 3395 Prkca protein kinase C, alpha gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:737062 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 3395 Prkca protein kinase C, alpha gene DOID:0080820 occupational asthma ISO RGD:737062 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 3395 Prkca protein kinase C, alpha gene DOID:10286 prostate carcinoma ISO RGD:737062 D RGD:2292463|PMID:9474241 20080418 RGD 3395 Prkca protein kinase C, alpha gene DOID:10763 hypertension IAGP D RGD:1581271|PMID:15792354 19990101 RGD 3395 Prkca protein kinase C, alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737062 D RGD:2298669|PMID:15922420 20080714 RGD protein:altered localization:urinary bladder 3395 Prkca protein kinase C, alpha gene DOID:11054 urinary bladder cancer severity ISO RGD:737062 D RGD:2292455|PMID:16008942 20080418 RGD protein:increased expression:urinary bladder 3395 Prkca protein kinase C, alpha gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:737062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 3395 Prkca protein kinase C, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:737062 D RGD:1581274|PMID:9918525 19990101 RGD 3395 Prkca protein kinase C, alpha gene DOID:2316 brain ischemia IEP D RGD:2293301|PMID:18032736 20080527 RGD associated with Subarachnoid Hemorrhage;protein:increased phosphorylation:cerebral artery 3395 Prkca protein kinase C, alpha gene DOID:2394 ovarian cancer ISO RGD:737062 D RGD:2298671|PMID:10589745 20080714 RGD 3395 Prkca protein kinase C, alpha gene DOID:2871 endometrial carcinoma ISO RGD:737062 D RGD:2292462|PMID:11371124 20080418 RGD 3395 Prkca protein kinase C, alpha gene DOID:3070 high grade glioma ISO RGD:737062 D RGD:11087038|PMID:26671581 20180817 RGD DNA:gene fusion: : 3395 Prkca protein kinase C, alpha gene DOID:326 ischemia IEP D RGD:2292478|PMID:17700073 20080421 RGD 3395 Prkca protein kinase C, alpha gene DOID:3774 chordoid glioma ISO RGD:737062 D RGD:13782058|PMID:29476136 20180817 RGD DNA:mutation:cds:c.1387G>C,p.D463H(human) 3395 Prkca protein kinase C, alpha gene DOID:4001 ovarian carcinoma severity ISO RGD:737062 D RGD:2292460|PMID:12888898 20080418 RGD 3395 Prkca protein kinase C, alpha gene DOID:4552 large cell carcinoma ISO RGD:737062 D RGD:2292463|PMID:9474241 20080418 RGD 3395 Prkca protein kinase C, alpha gene DOID:6000 congestive heart failure IEP D RGD:2292480|PMID:17556659 20080421 RGD protein:increased expression, increased phosphorylation:heart left ventricle 3395 Prkca protein kinase C, alpha gene DOID:630 genetic disease ISO RGD:737062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3395 Prkca protein kinase C, alpha gene DOID:9002234 Pituitary Neoplasms ISO RGD:737062 D RGD:1601471|PMID:8077302 20070423 RGD DNA:point mutation:somatic:D294G 3395 Prkca protein kinase C, alpha gene DOID:9002245 Intestinal Neoplasms ISO RGD:737062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 3395 Prkca protein kinase C, alpha gene DOID:9003936 Cardiomegaly IAGP D RGD:1581271|PMID:15792354 19990101 RGD 3395 Prkca protein kinase C, alpha gene DOID:9003936 Cardiomegaly ISO RGD:737062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21565836 3395 Prkca protein kinase C, alpha gene DOID:9004009 Reperfusion Injury IMP D RGD:2292474|PMID:17905752 20080421 RGD 3395 Prkca protein kinase C, alpha gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1581273|PMID:12619877 19990101 RGD 3395 Prkca protein kinase C, alpha gene DOID:9005274 Polyuria ISO RGD:737062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 3395 Prkca protein kinase C, alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 3395 Prkca protein kinase C, alpha gene DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:1581272|PMID:15532718 19990101 RGD 3395 Prkca protein kinase C, alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:2292446|PMID:17965220 20080418 RGD 3395 Prkca protein kinase C, alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:2292458|PMID:15454252 20080418 RGD protein:decreased expression:breast 3395 Prkca protein kinase C, alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:2292463|PMID:9474241 20080418 RGD 3396 Prkcb protein kinase C, beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 3396 Prkcb protein kinase C, beta gene DOID:10003 sensorineural hearing loss ISO RGD:731404 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27329761 3396 Prkcb protein kinase C, beta gene DOID:10325 silicosis IDA D RGD:1625527|PMID:14680365 20070612 RGD protein:increased activation:alveolar macrophage 3396 Prkcb protein kinase C, beta gene DOID:10652 Alzheimer's disease ISO RGD:731404 D RGD:13825140|PMID:8534418 20181116 RGD 3396 Prkcb protein kinase C, beta gene DOID:10763 hypertension IDA D RGD:1625513|PMID:15804434 20070612 RGD 3396 Prkcb protein kinase C, beta gene DOID:12849 autistic disorder ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16027742 3396 Prkcb protein kinase C, beta gene DOID:12930 dilated cardiomyopathy ISO RGD:731404 D RGD:1581274|PMID:9918525 19990101 RGD 3396 Prkcb protein kinase C, beta gene DOID:1824 status epilepticus IEP D RGD:1625525|PMID:15058486 20070612 RGD protein:increased expression:hippocampus 3396 Prkcb protein kinase C, beta gene DOID:2914 immune system disease ISO RGD:1550017 D RGD:737729|PMID:12118249 19990101 RGD 3396 Prkcb protein kinase C, beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:731404 D RGD:13503321|PMID:28422739 20180110 RGD DNA:hypermethylation:promoter:lung 3396 Prkcb protein kinase C, beta gene DOID:4195 hyperglycemia IDA D RGD:1625514|PMID:15616014 20070612 RGD 3396 Prkcb protein kinase C, beta gene DOID:4195 hyperglycemia ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17443133 3396 Prkcb protein kinase C, beta gene DOID:6000 congestive heart failure IEP D RGD:1625516|PMID:12392998 20070612 RGD associated with hypertension 3396 Prkcb protein kinase C, beta gene DOID:630 genetic disease ISO RGD:731404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3396 Prkcb protein kinase C, beta gene DOID:9000217 Stomach Neoplasms ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 3396 Prkcb protein kinase C, beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3396 Prkcb protein kinase C, beta gene DOID:9001984 Fetal Diseases IEP D RGD:1625524|PMID:15496608 20070612 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression 3396 Prkcb protein kinase C, beta gene DOID:9002165 Diabetic Nephropathies IDA D RGD:729635|PMID:12540629 20070612 RGD associated with hypertension;protein:increased expression:glomerular mesangium 3396 Prkcb protein kinase C, beta gene DOID:9002211 Hyperalgesia IDA D RGD:1625519|PMID:16360284 20070612 RGD associated with inflammation;protein:increased activity:spinal cord 3396 Prkcb protein kinase C, beta gene DOID:9003936 Cardiomegaly IDA D RGD:1581276|PMID:12887134 19990101 RGD 3396 Prkcb protein kinase C, beta gene DOID:9003936 Cardiomegaly ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 3396 Prkcb protein kinase C, beta gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1581275|PMID:16900949 19990101 RGD 3396 Prkcb protein kinase C, beta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625511|PMID:17250813 20070612 RGD protein:increased expression:myocardium 3396 Prkcb protein kinase C, beta gene DOID:9007692 Insulin Resistance IDA D RGD:1625515|PMID:12665248 20070612 RGD 3396 Prkcb protein kinase C, beta gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1625520|PMID:15878997 20070612 RGD 3396 Prkcb protein kinase C, beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 3396 Prkcb protein kinase C, beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:731404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 3396 Prkcb protein kinase C, beta gene DOID:9970 obesity IEP D RGD:1625512|PMID:17180352 20070612 RGD mRNA, protein:increased expression:mononuclear cell 3397 Prkcg protein kinase C, gamma gene DOID:0050753 cerebellar ataxia ISO RGD:732858 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 3397 Prkcg protein kinase C, gamma gene DOID:0050951 hereditary ataxia ISO RGD:732858 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 3397 Prkcg protein kinase C, gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:7240710 20130221 OMIM 3397 Prkcg protein kinase C, gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 PMID:12164726|PMID:12644968|PMID:14676051|PMID:14694043|PMID:15313841|PMID:15618281|PMID:15824357|PMID:15841389|PMID:15964845|PMID:16189624|PMID:16193476|PMID:16547918|PMID:16649092|PMID:16763984|PMID:17024314|PMID:17344846|PMID:17562946|PMID:17659643|PMID:18005063|PMID:18499672|PMID:18577575|PMID:19561170|PMID:20301573|PMID:21434874|PMID:21666345|PMID:21937992|PMID:24134140|PMID:24744737|PMID:24937631|PMID:25217572|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28738819|PMID:30093405|PMID:30363848|PMID:9545390 3397 Prkcg protein kinase C, gamma gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:732858 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 3397 Prkcg protein kinase C, gamma gene DOID:10584 retinitis pigmentosa ISO RGD:11147 D RGD:737791|PMID:9545390 19990101 RGD 3397 Prkcg protein kinase C, gamma gene DOID:1059 intellectual disability ISO RGD:732858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 3397 Prkcg protein kinase C, gamma gene DOID:12098 trigeminal neuralgia ISO RGD:732858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 3397 Prkcg protein kinase C, gamma gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732858 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 3397 Prkcg protein kinase C, gamma gene DOID:3525 middle cerebral artery infarction ISO RGD:732858 D RGD:1358416|PMID:14688616 20180712 RGD 3397 Prkcg protein kinase C, gamma gene DOID:630 genetic disease ISO RGD:732858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 3397 Prkcg protein kinase C, gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:11147 D RGD:28867228|PMID:10501452 20200810 RGD protein:decreased expression:spinal cord (mouse) 3397 Prkcg protein kinase C, gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20398063 3397 Prkcg protein kinase C, gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:737790|PMID:12644968 19990101 RGD DNA:missense mutations:cds: (human) 3397 Prkcg protein kinase C, gamma gene DOID:9002211 Hyperalgesia ISO RGD:732858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19955894|PMID:27093858 3397 Prkcg protein kinase C, gamma gene DOID:9002211 Hyperalgesia treatment ISO RGD:732858 D RGD:28867224|PMID:12560106 20200810 RGD 3397 Prkcg protein kinase C, gamma gene DOID:9006205 Animal Disease Models ISO RGD:732858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 3397 Prkcg protein kinase C, gamma gene DOID:9277 primary cerebellar degeneration ISO RGD:732858 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 3399 Prkcz protein kinase C, zeta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3399 Prkcz protein kinase C, zeta gene DOID:0060041 autism spectrum disorder ISO RGD:736361 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3399 Prkcz protein kinase C, zeta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736361 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3399 Prkcz protein kinase C, zeta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:736361 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 3399 Prkcz protein kinase C, zeta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:736361 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 3399 Prkcz protein kinase C, zeta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:736361 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 3399 Prkcz protein kinase C, zeta gene DOID:0110994 Joubert syndrome 25 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3399 Prkcz protein kinase C, zeta gene DOID:0111934 immunodeficiency 38 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3399 Prkcz protein kinase C, zeta gene DOID:0111935 immunodeficiency 16 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3399 Prkcz protein kinase C, zeta gene DOID:1240 leukemia ISO RGD:736361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 3399 Prkcz protein kinase C, zeta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3399 Prkcz protein kinase C, zeta gene DOID:4195 hyperglycemia IDA D RGD:1642528|PMID:12960081 20071005 RGD protein:increased threonine phosphorylation, increased activity:soleus muscle 3399 Prkcz protein kinase C, zeta gene DOID:630 genetic disease ISO RGD:736361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3399 Prkcz protein kinase C, zeta gene DOID:9002211 Hyperalgesia ISO RGD:736361 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27899695 3399 Prkcz protein kinase C, zeta gene DOID:9002304 Prostatic Neoplasms ISO RGD:736361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16931574 3399 Prkcz protein kinase C, zeta gene DOID:9003936 Cardiomegaly ISO RGD:736361 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27094369 3399 Prkcz protein kinase C, zeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736361 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3399 Prkcz protein kinase C, zeta gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1581275|PMID:16900949 19990101 RGD 3399 Prkcz protein kinase C, zeta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:736361 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 3399 Prkcz protein kinase C, zeta gene DOID:9007692 Insulin Resistance ISO RGD:736361 D RGD:1642650|PMID:12882908 20071005 RGD 3399 Prkcz protein kinase C, zeta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3399 Prkcz protein kinase C, zeta gene DOID:9352 type 2 diabetes mellitus IEP D RGD:13506804|PMID:26398746 20180216 RGD mRNA,protein:decreased expression:liver,pancreas: 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:7240710 20211201 OMIM 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 4 PMID:33106379|PMID:34782440 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:630 genetic disease ISO RGD:733228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:7240710 20211201 OMIM 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type PMID:34782440 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9007661 Dwarfism IAGP D RGD:150429792|PMID:15466490 20210929 RGD DNA:deletion:cds (rat) 3401 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9007661 Dwarfism IAGP D RGD:150429793|PMID:19149413 20210929 RGD DNA:deletion:cds (rat) 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1616839 D RGD:40902819|PMID:15670795 20201210 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:0080690 RASopathy ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1345835 D RGD:10395348|PMID:15567511 20150902 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1616839 D RGD:10395344|PMID:24315369 20150902 RGD protein:increased threonine phosphorylation:hippocampus 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1345835 D RGD:10395348|PMID:15567511 20150902 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1616839|RGD:1345835 D RGD:10395345|PMID:11468270 20150902 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1345835 D RGD:10395348|PMID:15567511 20150902 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:1824 status epilepticus ISO RGD:1345835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:1345835 D RGD:40902828|PMID:11861827 20201213 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:3298 vaccinia severity ISO RGD:1616839 D RGD:40902818|PMID:11967338 20201210 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:3298 vaccinia susceptibility ISO RGD:1616839 D RGD:40902816|PMID:20943971 20201210 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345835 D RGD:2301741|PMID:12675919 20081030 RGD protein:increased expression:spinal cord 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:5453 pulmonary venoocclusive disease IEP D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1345835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32197074 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1345835 D RGD:10395347|PMID:19151623 20150902 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9001488 Human Influenza ISO RGD:1345835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345835 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:32197074 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:7240710 20200715 OMIM 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome PMID:25741868|PMID:32197074|PMID:33236446|PMID:33553620|PMID:35146068 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1616839 D RGD:40902809|PMID:21636578 20201210 RGD 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:7240710 20220112 OMIM 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 33 PMID:25741868|PMID:33236446|PMID:33866603|PMID:35146068 3402 Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1345835 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32197074 3403 Prl prolactin gene DOID:0060001 withdrawal disorder ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9037573 3403 Prl prolactin gene DOID:0060043 sexual health disorder ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9334596|PMID:15829128 3403 Prl prolactin gene DOID:0080855 Parkinsonism ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:240179 3403 Prl prolactin gene DOID:10762 portal hypertension IDA D RGD:1642556|PMID:17119344 20071001 RGD protein:decreased expression:plasma 3403 Prl prolactin gene DOID:11132 prostatic hypertrophy ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2208075 3403 Prl prolactin gene DOID:12698 gynecomastia ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7878608|PMID:9334596 3403 Prl prolactin gene DOID:12700 hyperprolactinemia IEP D RGD:1642575|PMID:17303669 20071001 RGD protein:increased expression:serum 3403 Prl prolactin gene DOID:12700 hyperprolactinemia ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2880862|PMID:2948424|PMID:4001434|PMID:17303669 3403 Prl prolactin gene DOID:12849 autistic disorder ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 3403 Prl prolactin gene DOID:13938 amenorrhea ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6777091 3403 Prl prolactin gene DOID:1591 renovascular hypertension IEP D RGD:1642574|PMID:17316702 20071001 RGD protein:increased expression:plasma 3403 Prl prolactin gene DOID:1875 impotence ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:387166|PMID:4001434|PMID:7878608|PMID:8845563|PMID:15829128 3403 Prl prolactin gene DOID:1876 sexual dysfunction ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10084644|PMID:15677431 3403 Prl prolactin gene DOID:1924 hypogonadism ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829128 3403 Prl prolactin gene DOID:2355 anemia ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10340396 3403 Prl prolactin gene DOID:2696 Leydig cell tumor ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:4092719 3403 Prl prolactin gene DOID:289 endometriosis ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11925390 3403 Prl prolactin gene DOID:2945 severe acute respiratory syndrome ISO RGD:736187 D RGD:28711759|PMID:20651845 20200604 RGD protein:increased expression:adenohypophysis (human) 3403 Prl prolactin gene DOID:299 adenocarcinoma ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6280079 3403 Prl prolactin gene DOID:3407 carotid artery disease susceptibility ISO RGD:736187 D RGD:1642555|PMID:17626900 20071001 RGD protein:decreased expression:serum 3403 Prl prolactin gene DOID:5394 prolactinoma IAGP D RGD:1642576|PMID:17260475 20071001 RGD DNA:mutation 3403 Prl prolactin gene DOID:5394 prolactinoma IEP D RGD:1642576|PMID:17260475 20071001 RGD mRNA:increased expression:pituitary gland 3403 Prl prolactin gene DOID:5394 prolactinoma ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:718334|PMID:1407345|PMID:3776530|PMID:9617019 3403 Prl prolactin gene DOID:591 phobic disorder ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2554359 3403 Prl prolactin gene DOID:6000 congestive heart failure ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 3403 Prl prolactin gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2042694 3403 Prl prolactin gene DOID:630 genetic disease ISO RGD:736187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3403 Prl prolactin gene DOID:657 adenoma ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2274009|PMID:12058109 3403 Prl prolactin gene DOID:679 basal ganglia disease ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7214106 3403 Prl prolactin gene DOID:684 hepatocellular carcinoma onset ISO RGD:736187 D RGD:125097525|PMID:22392353 20210522 RGD protein:increased expression:serum (human) 3403 Prl prolactin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6280079|PMID:16316942 3403 Prl prolactin gene DOID:9000972 Fever ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3403 Prl prolactin gene DOID:9001791 Puerperal Disorders ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 3403 Prl prolactin gene DOID:9002090 Galactorrhea ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083845 3403 Prl prolactin gene DOID:9002170 Experimental Neoplasms treatment IEP D RGD:152177690|PMID:26983879 20220518 RGD 3403 Prl prolactin gene DOID:9002234 Pituitary Neoplasms ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2274009|PMID:3498743|PMID:6156259 3403 Prl prolactin gene DOID:9003002 Fetal Resorption ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3816235 3403 Prl prolactin gene DOID:9003805 Catalepsy ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7197982 3403 Prl prolactin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3403 Prl prolactin gene DOID:9005600 Infarction ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:718334 3403 Prl prolactin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15064918 3403 Prl prolactin gene DOID:9006024 Hypotension ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:71628|PMID:6350720 3403 Prl prolactin gene DOID:9006646 Metabolic Syndrome ISO RGD:736187 D RGD:1642558|PMID:16303834 20071001 RGD 3403 Prl prolactin gene DOID:9007001 Bradycardia ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3403 Prl prolactin gene DOID:9007456 Female Infertility ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19531635 3403 Prl prolactin gene DOID:9007692 Insulin Resistance ISO RGD:736187 D RGD:1642560|PMID:3888755 20071001 RGD associated with Hyperprolactinemia 3403 Prl prolactin gene DOID:9008023 Memory Disorders ISO RGD:736187 D RGD:11554173 20230516 CTD CTD Direct Evidence: therapeutic PMID:36100143 3403 Prl prolactin gene DOID:9008297 Motor Disorders ISO RGD:736187 D RGD:11554173 20230516 CTD CTD Direct Evidence: therapeutic PMID:36100143 3403 Prl prolactin gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 3403 Prl prolactin gene DOID:9074 systemic lupus erythematosus ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14870917 3403 Prl prolactin gene DOID:9406 hypopituitarism ISO RGD:736187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1304515 3403 Prl prolactin gene DOID:9970 obesity ISO RGD:736187 D RGD:1642559|PMID:8388614 20071001 RGD 3403 Prl prolactin gene DOID:9993 hypoglycemia ISO RGD:736187 D RGD:1642557|PMID:16617309 20071001 RGD associated with Hypertension 3407 Prlr prolactin receptor gene DOID:0050547 familial medullary thyroid carcinoma ISS RGD:11157 D RGD:13592920 20180518 MouseDO OMIM:155240 3407 Prlr prolactin receptor gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 3407 Prlr prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:7240710 20141015 OMIM 3407 Prlr prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperprolactinemia PMID:25741868|PMID:30575453 3407 Prlr prolactin receptor gene DOID:12849 autistic disorder ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 3407 Prlr prolactin receptor gene DOID:289 endometriosis ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 3407 Prlr prolactin receptor gene DOID:305 carcinoma ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 3407 Prlr prolactin receptor gene DOID:5419 schizophrenia ISO RGD:730871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 3407 Prlr prolactin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:730871 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 3407 Prlr prolactin receptor gene DOID:630 genetic disease ISO RGD:730871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3407 Prlr prolactin receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 3407 Prlr prolactin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3407 Prlr prolactin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3407 Prlr prolactin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730871 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3407 Prlr prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 3407 Prlr prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730871 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3407 Prlr prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:7240710 20140911 OMIM 3407 Prlr prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Multiple fibroadenomas of the breast PMID:18779591 3409 Prm2 protamine 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 3409 Prm2 protamine 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 3409 Prm2 protamine 2 gene DOID:5812 MHC class II deficiency ISO RGD:737276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3409 Prm2 protamine 2 gene DOID:630 genetic disease ISO RGD:737276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3410 Prnp prion protein gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:7240710 20130221 OMIM 3410 Prnp prion protein gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fatal familial insomnia PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1671440|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20583301|PMID:20592908|PMID:20593190|PMID:21269331|PMID:21298055|PMID:21616973|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22108575|PMID:22318125|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23723004|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25482600|PMID:25522698|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26000326|PMID:26268049|PMID:26488179|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:9270595|PMID:9279329|PMID:9531435|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 3410 Prnp prion protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:7240710 20130221 OMIM 3410 Prnp prion protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10612329|PMID:10631141|PMID:10665501|PMID:10790216|PMID:10889050|PMID:10953203|PMID:10970892|PMID:10987652|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11709001|PMID:11749972|PMID:11756421|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12420099|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:14610121|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15776279|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16187142|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16314483|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1671440|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16939293|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:17666888|PMID:17851697|PMID:1798423|PMID:18425766|PMID:18455951|PMID:18478114|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21107135|PMID:21269331|PMID:21298055|PMID:21416485|PMID:21552571|PMID:21616973|PMID:21791975|PMID:2180366|PMID:21839748|PMID:21904617|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22717776|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23261545|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:23871665|PMID:2458274|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25022973|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26000326|PMID:26268049|PMID:26323476|PMID:26488179|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27716661|PMID:27803826|PMID:2783132|PMID:2812321|PMID:28314738|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29458424|PMID:29887139|PMID:34663460|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7954833|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:8939199|PMID:9270595|PMID:9279329|PMID:9482303|PMID:9531435|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 3410 Prnp prion protein gene DOID:10652 Alzheimer's disease ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 3410 Prnp prion protein gene DOID:10652 Alzheimer's disease ISO RGD:737306 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12572668|PMID:23349890 3410 Prnp prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:1599946|PMID:1684755 20070221 RGD DNA:mutation 3410 Prnp prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:7240710 20130221 OMIM 3410 Prnp prion protein gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial | ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15967879|PMID:15987701|PMID:16187142|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21269331|PMID:21298055|PMID:21552571|PMID:21791975|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:2458274|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:9279329|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072|PMID:9813003 3410 Prnp prion protein gene DOID:2377 multiple sclerosis ISO RGD:737306 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 3410 Prnp prion protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 3410 Prnp prion protein gene DOID:4195 hyperglycemia IDA D RGD:1599950|PMID:17146448 20070221 RGD 3410 Prnp prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10203975 3410 Prnp prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:7240710 20130221 OMIM 3410 Prnp prion protein gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome PMID:10079068|PMID:10437852|PMID:10506086|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10631141|PMID:10698707|PMID:10790216|PMID:10953183|PMID:10953203|PMID:10970892|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11704923|PMID:11709001|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16939293|PMID:16969862|PMID:17029785|PMID:17353478|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19225789|PMID:19422533|PMID:19422537|PMID:19675240|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19911184|PMID:19923577|PMID:20301407|PMID:20541558|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21416485|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26323476|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27716661|PMID:2783132|PMID:2812321|PMID:28492532|PMID:29382530|PMID:29458424|PMID:29887139|PMID:7501157|PMID:7902693|PMID:7902971|PMID:7902972|PMID:7908444|PMID:7954833|PMID:8137139|PMID:8461023|PMID:8570627|PMID:8698234|PMID:8939199|PMID:9452375|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:5434 scrapie ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11701772|PMID:18717736|PMID:19486493|PMID:21533749 3410 Prnp prion protein gene DOID:5434 scrapie onset IMP D RGD:15045596|PMID:29157304 20191218 RGD 3410 Prnp prion protein gene DOID:630 genetic disease ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10506086|PMID:10698707|PMID:19675240|PMID:2783132|PMID:7501157|PMID:7902972|PMID:9452375 3410 Prnp prion protein gene DOID:648 kuru ISO RGD:737306 D RGD:7240710 20230505 OMIM 3410 Prnp prion protein gene DOID:648 kuru ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:25741868|PMID:25818675|PMID:26061765|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:8137139|PMID:8461023|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:649 prion disease ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11701772|PMID:11994310|PMID:17257012|PMID:17274528 3410 Prnp prion protein gene DOID:649 prion disease ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10612329|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12420099|PMID:12451207|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15557533|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19812771|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:20697057|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25022973|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:30606247|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:8725 vascular dementia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 3410 Prnp prion protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 3410 Prnp prion protein gene DOID:893 Wilson disease ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16831968 3410 Prnp prion protein gene DOID:9000217 Stomach Neoplasms ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 3410 Prnp prion protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 3410 Prnp prion protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3410 Prnp prion protein gene DOID:9002170 Experimental Neoplasms ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21265952 3410 Prnp prion protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 3410 Prnp prion protein gene DOID:9005749 Necrosis ISO RGD:737306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18547651 3410 Prnp prion protein gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:7240710 20130221 OMIM 3410 Prnp prion protein gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10612329|PMID:10953183|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12813570|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:16831973|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9266722|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:9006061 Cerebral Amyloidosis with Spongiform Encephalopathy ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:9008293 Primary Progressive Aphasia ISO RGD:737306 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 3410 Prnp prion protein gene DOID:9008393 Spinocerebellar Ataxia and Plaque-Like Deposits ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060538 purpura fulminans ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8967151|PMID:9164807|PMID:11132655|PMID:18376272 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis treatment ISO RGD:737321 D RGD:11250413|PMID:8073406 20160615 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111220 centronuclear myopathy 2 ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:737321 D RGD:11099994|PMID:25196808 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20160120 OMIM 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:1301954|PMID:1301959|PMID:1347608|PMID:1347706|PMID:1348046|PMID:14642106|PMID:1464619|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:1678832|PMID:17152060|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22627591|PMID:24051141|PMID:24103874|PMID:24162787|PMID:24782131|PMID:24796542|PMID:24911457|PMID:25393254|PMID:25637381|PMID:25648792|PMID:25741868|PMID:25748729|PMID:2602169|PMID:27172833|PMID:27517348|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:34355501|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8324221|PMID:8446940|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8807339|PMID:8845458|PMID:8883262|PMID:9798967 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180613 OMIM 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:11380450|PMID:1301954|PMID:1301959|PMID:1347608|PMID:14642106|PMID:1464619|PMID:1469096|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:16199547|PMID:16867987|PMID:17152060|PMID:17576681|PMID:17635713|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22353194|PMID:22425321|PMID:22545135|PMID:22576310|PMID:22627591|PMID:22817391|PMID:22944127|PMID:22951146|PMID:23174622|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24051141|PMID:24103874|PMID:24122877|PMID:24162787|PMID:24300144|PMID:2437584|PMID:24782131|PMID:24911457|PMID:25039884|PMID:25393254|PMID:25525159|PMID:25533856|PMID:25637381|PMID:25648792|PMID:25712501|PMID:25741868|PMID:25748729|PMID:2602169|PMID:26250584|PMID:27081530|PMID:27172833|PMID:27517348|PMID:2783855|PMID:27838551|PMID:27995882|PMID:28111891|PMID:28174134|PMID:28468828|PMID:28492532|PMID:28607330|PMID:29356699|PMID:29536478|PMID:2991887|PMID:30439769|PMID:30632992|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:7831652|PMID:7841324|PMID:7865674|PMID:7881411|PMID:7894031|PMID:7913773|PMID:7951255|PMID:8093743|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8218861|PMID:8292730|PMID:8324221|PMID:8400292|PMID:8446940|PMID:8462980|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8639775|PMID:8704244|PMID:8807339|PMID:8845458|PMID:8883262|PMID:8972002|PMID:9536098|PMID:9553065|PMID:9683579|PMID:9798967|PMID:9840027 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10159 osteonecrosis ISO RGD:737321 D RGD:30309948|PMID:16547717 20200622 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10159 osteonecrosis ISO RGD:737321 D RGD:30309951|PMID:16677567 20200622 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10591 pre-eclampsia ISO RGD:737321 D RGD:11564336|PMID:9065198 20161116 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10763 hypertension ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737321 D RGD:11100014|PMID:10936861 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:11161 D RGD:11099993|PMID:9788960 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:737321 D RGD:11100014|PMID:10936861 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1247 blood coagulation disease ISO RGD:11161 D RGD:11100017|PMID:19333141 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome ISO RGD:11161 D RGD:11100015|PMID:19320827 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome treatment ISO RGD:737321 D RGD:11100041|PMID:21850534 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1969 cerebral palsy ISO RGD:737321 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:1347706|PMID:24796542|PMID:25741868|PMID:31064749 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2450 central retinal vein occlusion treatment ISO RGD:737321 D RGD:11100028|PMID:20688738 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:11099991|PMID:24189967 20160610 RGD associated with Infertility, Female 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:1578514|PMID:2437584 19990101 RGD DNA:nonsense mutation, missense mutation:cds:p.R306X, p.W402C (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:1581278|PMID:7881411 19990101 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2841 asthma treatment ISO RGD:737321 D RGD:11099992|PMID:26381519 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2988 antiphospholipid syndrome ISO RGD:737321 D RGD:11099994|PMID:25196808 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3021 acute kidney failure treatment ISO RGD:737321 D RGD:11250410|PMID:19092124 20160615 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:11161 D RGD:11100027|PMID:24159062 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3526 cerebral infarction ISO RGD:737321 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:33761690 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:11099984|PMID:11434940 20160610 RGD DNA:missense mutation:exon:p.A259T (8490G>A) (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:11099985|PMID:8845458 20160610 RGD DNA:missense mutation:exon:p.R87H (3203G>A) (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14707701|PMID:18376272|PMID:21445774|PMID:33761690 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:1578392|PMID:8128429 19990101 RGD DNA:missense mutations:cds:p.L223F, p.I403M (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:5844 myocardial infarction ISO RGD:737321 D RGD:11100014|PMID:10936861 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:630 genetic disease ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18954896|PMID:21621249|PMID:25712501|PMID:25741868|PMID:27081530|PMID:28111891|PMID:28492532|PMID:8218861 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:737321 D RGD:11100044|PMID:10903607 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury ISO RGD:737321 D RGD:11100021|PMID:12605111 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737321 D RGD:11100046|PMID:18507760 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002564 Arteritis ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17139375 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737321 D RGD:11100045|PMID:25108045 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003121 Thromboembolism ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8052960 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003121 Thromboembolism ISO RGD:737321 D RGD:1578517|PMID:12067914 19990101 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003121 Thromboembolism ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1868249|PMID:22627591|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8093743 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:11099984|PMID:11434940 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:11099988|PMID:24162787 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9149031|PMID:21445774 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:11161 D RGD:11035247|PMID:23550037 20160212 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:11099989|PMID:25748729 20160610 RGD DNA:missense mutations: :p.D297H, p.V420L (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:11099990|PMID:22545135 20160610 RGD DNA:missense mutation: :c.565C>T (rs146922325) (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:11100014|PMID:10936861 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12730085|PMID:25748729 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:1578391|PMID:15114590 19990101 RGD DNA:silent mutation, missense mutation:cds:g.66C>T, p.R147W (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:1578515|PMID:8400292 19990101 RGD DNA:missense mutation:cds:p.Q184H (human) 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:17152060|PMID:1868249|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31254973|PMID:32717757|PMID:34355501|PMID:7482420|PMID:8128429|PMID:8499565|PMID:8845458 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11820775|PMID:17556722 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis disease_progression IEP D RGD:11250412|PMID:15241104 20160615 RGD mRNA, protein:decreased expression:liver, plasma 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis treatment ISO RGD:737321 D RGD:11100029|PMID:22940033 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:11100043|PMID:16553944 20160614 RGD associated with Pseudomonas Infections 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:11250405|PMID:18367148 20160615 RGD associated with Intestinal Reperfusion Injury 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004649 Heat Stroke treatment ISO RGD:737321 D RGD:11250411|PMID:16715032 20160615 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9005930 Endotoxemia treatment ISO RGD:737321 D RGD:11100030|PMID:18205901 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9005930 Endotoxemia treatment ISO RGD:737321 D RGD:11100034|PMID:23170801 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006363 Congenital Thrombotic Disease, due to Protein C Deficiency ISO RGD:737321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25748729 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006363 Congenital Thrombotic Disease, due to Protein C Deficiency ISO RGD:737321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced protein C activity PMID:10805275|PMID:10942114|PMID:1301954|PMID:1301959|PMID:1511988|PMID:1511989|PMID:17152060|PMID:18573519|PMID:1868249|PMID:18954896|PMID:21621249|PMID:22545135|PMID:22817391|PMID:22944127|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24162787|PMID:25637381|PMID:25741868|PMID:2602169|PMID:28111891|PMID:28492532|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7792728|PMID:8128429|PMID:8165644|PMID:8292730|PMID:8462980|PMID:8499565|PMID:8704244|PMID:8807339|PMID:9798967 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:737321 D RGD:11100035|PMID:19782612 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007456 Female Infertility ISO RGD:737321 D RGD:11099991|PMID:24189967 20160610 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:737321 D RGD:11100040|PMID:19680809 20160614 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:737321 D RGD:11250409|PMID:15187522 20160615 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9477 pulmonary embolism ISO RGD:737321 D RGD:11100014|PMID:10936861 20160613 RGD 3411 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9667 placental abruption susceptibility ISO RGD:737321 D RGD:11564329|PMID:9855597 20161116 RGD 3414 Prph peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733911 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3414 Prph peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733911 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 3414 Prph peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:733911 D RGD:7240710 20230505 OMIM 3414 Prph peripherin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:733911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 3414 Prph peripherin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15322088|PMID:15446584|PMID:25741868|PMID:28492532 3414 Prph peripherin gene DOID:630 genetic disease ISO RGD:733911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3415 Prps2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:12849 autistic disorder ISO RGD:737326 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3415 Prps2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:737326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3415 Prps2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737326 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3417 Prss1 serine protease 1 gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:735824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A PMID:10204851|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11312265|PMID:11719509|PMID:11788572|PMID:11842279|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12853682|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16632094|PMID:17204147|PMID:17568390|PMID:18286680|PMID:18511571|PMID:18755888|PMID:19453252|PMID:21415673|PMID:22379635|PMID:22539344|PMID:23143602|PMID:24002981|PMID:24458023|PMID:24525505|PMID:2539344|PMID:25741868|PMID:27578509|PMID:27673710|PMID:28492532|PMID:28861620|PMID:30420730|PMID:6023921|PMID:9322498|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:1485 cystic fibrosis IEP D RGD:1599967|PMID:8625754 20070222 RGD protein:increased expression:plasma 3417 Prss1 serine protease 1 gene DOID:2661 myoepithelioma ISO RGD:735824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:10204851|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11312265|PMID:11719509|PMID:11788572|PMID:11842279|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12853682|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16632094|PMID:17204147|PMID:17568390|PMID:18286680|PMID:18511571|PMID:18755888|PMID:19453252|PMID:21415673|PMID:22379635|PMID:22539344|PMID:23143602|PMID:24002981|PMID:24458023|PMID:24525505|PMID:2539344|PMID:25741868|PMID:27578509|PMID:27673710|PMID:28492532|PMID:28861620|PMID:30420730|PMID:6023921|PMID:9322498|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:4989 pancreatitis IEP D RGD:1599965|PMID:9688663 20070222 RGD protein:increased expression:cytosol 3417 Prss1 serine protease 1 gene DOID:4989 pancreatitis ISO RGD:735824 D RGD:11554173 20170905 CTD CTD Direct Evidence: marker/mechanism PMID:23143602 3417 Prss1 serine protease 1 gene DOID:4989 pancreatitis ISO RGD:735824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Recurrent pancreatitis PMID:10381903|PMID:11260229|PMID:15017610|PMID:16036133|PMID:16505482|PMID:17204147|PMID:19191323|PMID:19453252|PMID:19951905|PMID:20502448|PMID:21907651|PMID:22379635|PMID:22427236|PMID:22539344|PMID:22749696|PMID:23143602|PMID:24458023|PMID:25546417|PMID:25741868|PMID:26658045|PMID:28492532|PMID:28502372|PMID:28536777|PMID:29173301|PMID:29215622|PMID:30018304|PMID:30113427|PMID:30850667|PMID:34065437 3417 Prss1 serine protease 1 gene DOID:4989 pancreatitis susceptibility ISO RGD:735824 D RGD:1599960|PMID:8841182 20070221 RGD protein:mutation: :p.R117H (human) 3417 Prss1 serine protease 1 gene DOID:630 genetic disease ISO RGD:735824 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3417 Prss1 serine protease 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:735824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10204851|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11312265|PMID:11719509|PMID:11788572|PMID:11842279|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12853682|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16632094|PMID:17204147|PMID:17568390|PMID:18286680|PMID:18511571|PMID:18755888|PMID:19453252|PMID:21415673|PMID:22379635|PMID:22539344|PMID:23143602|PMID:24002981|PMID:24458023|PMID:24525505|PMID:2539344|PMID:25741868|PMID:27578509|PMID:27673710|PMID:28492532|PMID:28861620|PMID:30420730|PMID:6023921|PMID:9322498|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735824 D RGD:2324899|PMID:18428024 20100514 RGD protein:increased expression:urine 3417 Prss1 serine protease 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:1599961|PMID:11062314 20070221 RGD 3417 Prss1 serine protease 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:735824 D RGD:11554173 20170905 CTD CTD Direct Evidence: marker/mechanism PMID:18206817 3417 Prss1 serine protease 1 gene DOID:9006609 Trypsinogen Deficiency ISO RGD:735824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Trypsinogen deficiency PMID:10204851|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11312265|PMID:11719509|PMID:11788572|PMID:11842279|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12853682|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16632094|PMID:17204147|PMID:17568390|PMID:18286680|PMID:18511571|PMID:18755888|PMID:19453252|PMID:21415673|PMID:22379635|PMID:22539344|PMID:23143602|PMID:24002981|PMID:24458023|PMID:24525505|PMID:2539344|PMID:25741868|PMID:27578509|PMID:27673710|PMID:28492532|PMID:28861620|PMID:30420730|PMID:6023921|PMID:9322498|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735824 D RGD:8554872 20170905 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 3417 Prss1 serine protease 1 gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:735824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10204851|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11312265|PMID:11719509|PMID:11788572|PMID:11842279|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12853682|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16632094|PMID:17204147|PMID:17568390|PMID:18286680|PMID:18511571|PMID:18755888|PMID:19453252|PMID:21415673|PMID:22379635|PMID:22539344|PMID:23143602|PMID:24002981|PMID:24458023|PMID:24525505|PMID:2539344|PMID:25741868|PMID:27578509|PMID:27673710|PMID:28492532|PMID:28861620|PMID:30420730|PMID:6023921|PMID:9322498|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:735824 D RGD:11554173 20170905 CTD CTD Direct Evidence: marker/mechanism PMID:8841182 3417 Prss1 serine protease 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:735824 D RGD:7240710 20170830 OMIM 3417 Prss1 serine protease 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:735824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10204851|PMID:10381903|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10930381|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11260229|PMID:11312265|PMID:11702203|PMID:11708864|PMID:11719509|PMID:11734061|PMID:11748242|PMID:11788572|PMID:11842279|PMID:11866271|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12413370|PMID:12508340|PMID:12765848|PMID:12853682|PMID:14526128|PMID:14695529|PMID:15017610|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16036133|PMID:16505482|PMID:16632094|PMID:16791840|PMID:16954950|PMID:17003641|PMID:17204147|PMID:17568390|PMID:17576681|PMID:18063422|PMID:18184119|PMID:18272034|PMID:18286680|PMID:18461367|PMID:18511571|PMID:18580441|PMID:18755888|PMID:19191323|PMID:19433603|PMID:19453252|PMID:19584086|PMID:19857283|PMID:19951905|PMID:20001681|PMID:20452997|PMID:20502448|PMID:20510827|PMID:20950468|PMID:21415673|PMID:21907651|PMID:22094894|PMID:22379635|PMID:22427236|PMID:22539344|PMID:22749696|PMID:23143602|PMID:23455445|PMID:23601753|PMID:23686146|PMID:23751316|PMID:23951356|PMID:24002981|PMID:24033266|PMID:24413785|PMID:24458023|PMID:24525505|PMID:24780743|PMID:24909264|PMID:25383785|PMID:2539344|PMID:25479140|PMID:25543846|PMID:25546417|PMID:25741868|PMID:26376395|PMID:26658045|PMID:27179762|PMID:27264265|PMID:27409067|PMID:27578509|PMID:27673710|PMID:28166811|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28650851|PMID:28861620|PMID:29173301|PMID:29215622|PMID:30018304|PMID:30113427|PMID:30420730|PMID:30850667|PMID:31521106|PMID:31751559|PMID:31780696|PMID:34065437|PMID:6023921|PMID:8841182|PMID:9322498|PMID:9536098|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:735824 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10204851|PMID:10381903|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10930381|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11260229|PMID:11312265|PMID:11702203|PMID:11708864|PMID:11719509|PMID:11734061|PMID:11748242|PMID:11788572|PMID:11842279|PMID:11866271|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12413370|PMID:12508340|PMID:12765848|PMID:12853682|PMID:14526128|PMID:14695529|PMID:15017610|PMID:15028953|PMID:15776435|PMID:15786540|PMID:16036133|PMID:16505482|PMID:16632094|PMID:16791840|PMID:16954950|PMID:17003641|PMID:17204147|PMID:17568390|PMID:17576681|PMID:18063422|PMID:18184119|PMID:18272034|PMID:18286680|PMID:18461367|PMID:18511571|PMID:18580441|PMID:18755888|PMID:19191323|PMID:19433603|PMID:19453252|PMID:19584086|PMID:19857283|PMID:19951905|PMID:20001681|PMID:20452997|PMID:20502448|PMID:20510827|PMID:20950468|PMID:21415673|PMID:21907651|PMID:22094894|PMID:22379635|PMID:22427236|PMID:22539344|PMID:22749696|PMID:23143602|PMID:23455445|PMID:23601753|PMID:23686146|PMID:23751316|PMID:23951356|PMID:24002981|PMID:24033266|PMID:24413785|PMID:24458023|PMID:24525505|PMID:24780743|PMID:24909264|PMID:25383785|PMID:2539344|PMID:25479140|PMID:25543846|PMID:25546417|PMID:25741868|PMID:26376395|PMID:26658045|PMID:27179762|PMID:27264265|PMID:27409067|PMID:27578509|PMID:27673710|PMID:28166811|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28650851|PMID:28861620|PMID:29173301|PMID:29215622|PMID:29625052|PMID:30018304|PMID:30113427|PMID:30420730|PMID:30850667|PMID:31521106|PMID:31751559|PMID:31780696|PMID:34065437|PMID:6023921|PMID:8841182|PMID:9322498|PMID:9536098|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:735824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10204851|PMID:10381903|PMID:10514442|PMID:10691414|PMID:10801865|PMID:10835640|PMID:10872414|PMID:10909845|PMID:10930381|PMID:10982753|PMID:11097832|PMID:11247900|PMID:11260229|PMID:11312265|PMID:11702203|PMID:11708864|PMID:11719509|PMID:11734061|PMID:11748242|PMID:11788572|PMID:11842279|PMID:11866271|PMID:11932257|PMID:11950817|PMID:12011155|PMID:12413370|PMID:12508340|PMID:12765848|PMID:12832630|PMID:12853682|PMID:14526128|PMID:14695529|PMID:15017610|PMID:15028953|PMID:15776435|PMID:15786540|PMID:15970597|PMID:16036133|PMID:16199547|PMID:16227369|PMID:16505482|PMID:16632094|PMID:16791840|PMID:16954950|PMID:17003641|PMID:17204147|PMID:17568390|PMID:17576681|PMID:18063422|PMID:18184119|PMID:18272034|PMID:18286680|PMID:18461367|PMID:18511571|PMID:18580441|PMID:18755888|PMID:19191323|PMID:19433603|PMID:19453252|PMID:19454815|PMID:19584086|PMID:19857283|PMID:19951905|PMID:20001681|PMID:20452997|PMID:20502448|PMID:20510827|PMID:20950468|PMID:21415673|PMID:21499205|PMID:21907651|PMID:22094894|PMID:22379635|PMID:22427236|PMID:22539344|PMID:22749696|PMID:23143602|PMID:23455445|PMID:23601753|PMID:23686146|PMID:23751316|PMID:23951356|PMID:24002981|PMID:24033266|PMID:24413785|PMID:24458023|PMID:24525505|PMID:24780743|PMID:24909264|PMID:25383785|PMID:2539344|PMID:25479140|PMID:25543846|PMID:25546417|PMID:25741868|PMID:26182300|PMID:26376395|PMID:26546433|PMID:26658045|PMID:27179762|PMID:27264265|PMID:27409067|PMID:27578509|PMID:27673710|PMID:28166811|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28650851|PMID:28767289|PMID:28861620|PMID:29173301|PMID:29215622|PMID:29555771|PMID:29625052|PMID:29915322|PMID:30018304|PMID:30113427|PMID:30420730|PMID:30850667|PMID:31419436|PMID:31521106|PMID:31751559|PMID:31780696|PMID:34065437|PMID:6023921|PMID:8841182|PMID:9322498|PMID:9536098|PMID:9557894|PMID:9633818 3417 Prss1 serine protease 1 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:1599966|PMID:3833185 20070222 RGD protein:increased expression:serum 3418 Prss2 protease, serine, 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1347326 D RGD:2324908|PMID:8621252 20100514 RGD protein:increased expression:serum 3418 Prss2 protease, serine, 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347326 D RGD:2324899|PMID:18428024 20100514 RGD protein:increased expression:urine 3418 Prss2 protease, serine, 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347326 D RGD:2324908|PMID:8621252 20100514 RGD protein:increased expression:serum 3419 Klk6 kallikrein related-peptidase 6 gene DOID:10283 prostate cancer ISO RGD:736738 D RGD:2314865|PMID:12970725 20091201 RGD protein:decreased expression:prostate 3419 Klk6 kallikrein related-peptidase 6 gene DOID:10652 Alzheimer's disease ISO RGD:736738 D RGD:1358599|PMID:12074831 19990101 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:10652 Alzheimer's disease ISO RGD:736738 D RGD:1358604|PMID:12480753 19990101 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:12217 Lewy body dementia ISO RGD:736738 D RGD:1358597|PMID:12928483 19990101 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:14330 Parkinson's disease ISO RGD:736738 D RGD:1358597|PMID:12928483 19990101 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:2377 multiple sclerosis ISO RGD:733840 D RGD:2314867|PMID:11802715 20091201 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:2394 ovarian cancer ISO RGD:736738 D RGD:2314855|PMID:17303231 20091130 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:3213 demyelinating disease ISO RGD:736738 D RGD:1358596|PMID:12023317 19990101 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:3459 breast carcinoma ISO RGD:736738 D RGD:2314863|PMID:18992199 20091201 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:4450 renal cell carcinoma ISO RGD:736738 D RGD:2314864|PMID:16340244 20091201 RGD protein:decreased expression:kidney 3419 Klk6 kallikrein related-peptidase 6 gene DOID:4752 multiple system atrophy ISO RGD:736738 D RGD:1358597|PMID:12928483 19990101 RGD 3419 Klk6 kallikrein related-peptidase 6 gene DOID:630 genetic disease ISO RGD:736738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3419 Klk6 kallikrein related-peptidase 6 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2314866|PMID:16987227 20091201 RGD protein:increased expression:spinal cord 3423 Psap prosaposin gene DOID:0050439 Usher syndrome ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 3423 Psap prosaposin gene DOID:0060892 late onset Parkinson's disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:17576681|PMID:25741868|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:32201884|PMID:33402667|PMID:9536098 3423 Psap prosaposin gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 3423 Psap prosaposin gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:28492532 3423 Psap prosaposin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 3423 Psap prosaposin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736284 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 3423 Psap prosaposin gene DOID:0110831 Usher syndrome type 1D ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 3423 Psap prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:736284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:11309366|PMID:1371116|PMID:15856305|PMID:16199547|PMID:17576681|PMID:17616409|PMID:19267410|PMID:20484222|PMID:25741868|PMID:2615292|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:6256275|PMID:8460394|PMID:8554069|PMID:9536098 3423 Psap prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 3423 Psap prosaposin gene DOID:0111330 combined saposin deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:10196694|PMID:10682309|PMID:11309366|PMID:1350885|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17561962|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:2302219|PMID:2320574|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25640679|PMID:25741868|PMID:25991456|PMID:26462614|PMID:26822237|PMID:26831127|PMID:28457694|PMID:28492532|PMID:30037697|PMID:30632081|PMID:31319425|PMID:32180488|PMID:33402667|PMID:8554069|PMID:9536098 3423 Psap prosaposin gene DOID:0111330 combined saposin deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 3423 Psap prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:9536098 3423 Psap prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:9536098 3423 Psap prosaposin gene DOID:10581 metachromatic leukodystrophy ISS RGD:736284 D RGD:13592920 20180518 MouseDO OMIM:249900 | OMIM:250100 3423 Psap prosaposin gene DOID:10587 Krabbe disease ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 3423 Psap prosaposin gene DOID:10587 Krabbe disease ISS RGD:11178 D RGD:13592920 20180518 MouseDO OMIM:245200 3423 Psap prosaposin gene DOID:630 genetic disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1350885|PMID:17576681|PMID:2302219|PMID:2320574|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31439510|PMID:9536098 3423 Psap prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency PMID:15773042|PMID:17576681|PMID:25741868|PMID:26822237|PMID:28492532|PMID:29995202|PMID:30632081|PMID:31319425|PMID:31439510|PMID:32180488|PMID:9536098 3423 Psap prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 3423 Psap prosaposin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 3423 Psap prosaposin gene DOID:9004538 Hearing Loss ISO RGD:736284 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 3423 Psap prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:11309366|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17576681|PMID:17616409|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:25741868|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:8554069|PMID:9536098 3423 Psap prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency susceptibility ISO RGD:736284 D RGD:7240710 20230517 OMIM 3425 Psen1 presenilin 1 gene DOID:0050700 cardiomyopathy ISO RGD:731724 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 3425 Psen1 presenilin 1 gene DOID:0081292 traumatic brain injury ISO RGD:735973 D RGD:13801189|PMID:18240300 20181101 RGD 3425 Psen1 presenilin 1 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10468510|PMID:11395394|PMID:12552037|PMID:14743455|PMID:15205973|PMID:16267640|PMID:17188713|PMID:20301414|PMID:23539189|PMID:25108559|PMID:26410308|PMID:26467025|PMID:27014028|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:29494861|PMID:29661148|PMID:30045758|PMID:30528841|PMID:30598257|PMID:31109937|PMID:32917274|PMID:34389718|PMID:8910898|PMID:9189043|PMID:9437013|PMID:9804121 3425 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:7240710 20130425 OMIM 3425 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10090481|PMID:10327206|PMID:10401002|PMID:10430510|PMID:10441572|PMID:10448055|PMID:10468510|PMID:10525535|PMID:10548420|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10764737|PMID:10811883|PMID:11027672|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:12048239|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12433263|PMID:12484344|PMID:12493737|PMID:12552037|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15115757|PMID:15122701|PMID:15205973|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16805926|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16952411|PMID:17108687|PMID:17186461|PMID:17254019|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18350357|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19849793|PMID:1985297|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23705774|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24304563|PMID:24352661|PMID:24463146|PMID:24698269|PMID:24860142|PMID:24928124|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27777022|PMID:27810638|PMID:27836335|PMID:27930341|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28550247|PMID:28554858|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30054184|PMID:30412504|PMID:30567237|PMID:30590039|PMID:30745123|PMID:30797548|PMID:30924900|PMID:31153663|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32556937|PMID:32894632|PMID:33203472|PMID:33440141|PMID:33918046|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9443865|PMID:9450754|PMID:9507958|PMID:9521423 3425 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9851443|PMID:9851450|PMID:9915968 3425 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10075646|PMID:10090481|PMID:10327206|PMID:10366599|PMID:10401002|PMID:10430510|PMID:10439444|PMID:10441572|PMID:10447269|PMID:10448055|PMID:10468510|PMID:10502791|PMID:10525535|PMID:10533070|PMID:10548420|PMID:10549825|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10754226|PMID:10764737|PMID:10775535|PMID:10783295|PMID:10811883|PMID:10854108|PMID:11013240|PMID:11027672|PMID:11043553|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11701593|PMID:11710891|PMID:11764087|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:11992262|PMID:12048239|PMID:12111359|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12392798|PMID:12433263|PMID:12484344|PMID:12493631|PMID:12493737|PMID:12552037|PMID:12615638|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14623725|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15094846|PMID:15115757|PMID:15119739|PMID:15122701|PMID:15205973|PMID:15272895|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16199547|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16948293|PMID:16952411|PMID:16959576|PMID:17108687|PMID:17186461|PMID:17188713|PMID:17197420|PMID:17254019|PMID:17288597|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17545141|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18024701|PMID:18350357|PMID:18479822|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19430857|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19776335|PMID:19849793|PMID:1985297|PMID:19912322|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:20205669|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20481270|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:20847418|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21422519|PMID:21559198|PMID:21559374|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22517194|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22766738|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23123781|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23483213|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23638752|PMID:23705774|PMID:23752245|PMID:23792692|PMID:23843529|PMID:23850332|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24011544|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24217025|PMID:24304563|PMID:24352661|PMID:24418614|PMID:24463146|PMID:24625695|PMID:24698269|PMID:24773620|PMID:24860142|PMID:24880964|PMID:24918054|PMID:24928124|PMID:25027006|PMID:25108559|PMID:25174650|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741723|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26194182|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26396515|PMID:26410308|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26549787|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26923592|PMID:26925509|PMID:27014028|PMID:27014058|PMID:27073747|PMID:27100199|PMID:27100200|PMID:27206484 3425 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27730373|PMID:27777022|PMID:27793474|PMID:27810638|PMID:27836335|PMID:27926491|PMID:2793034|PMID:27930341|PMID:28008242|PMID:28082723|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28532646|PMID:28550247|PMID:28554858|PMID:28749476|PMID:28753424|PMID:29091718|PMID:29142009|PMID:29316780|PMID:29404783|PMID:29494861|PMID:29525180|PMID:29571857|PMID:29661148|PMID:29874583|PMID:30021643|PMID:30045758|PMID:30054184|PMID:30090657|PMID:30138848|PMID:30200536|PMID:30279455|PMID:30412504|PMID:30528841|PMID:30567237|PMID:30590039|PMID:30598257|PMID:30630874|PMID:30716424|PMID:30745123|PMID:30797548|PMID:30814350|PMID:30822634|PMID:30924900|PMID:30954774|PMID:31109937|PMID:31153663|PMID:31235249|PMID:31381512|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32103039|PMID:32395715|PMID:32556937|PMID:32590294|PMID:32594361|PMID:32894632|PMID:32917274|PMID:33188013|PMID:33188256|PMID:33203472|PMID:33274538|PMID:33440141|PMID:33571524|PMID:33855944|PMID:33918046|PMID:34220489|PMID:34319632|PMID:34389718|PMID:34776449|PMID:35260199|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7651536|PMID:7824141|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9196071|PMID:9225696|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9437013|PMID:9443865|PMID:9450754|PMID:9452052|PMID:9502232|PMID:9507958|PMID:9521418|PMID:9521423|PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9680315|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9833068|PMID:9851443|PMID:9851450|PMID:9915968 3425 Psen1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:7240710 20130425 OMIM 3425 Psen1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1U PMID:10643802|PMID:11524469|PMID:12192622|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17186461|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20194882|PMID:21959359|PMID:22503161|PMID:22810102|PMID:22906081|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28554858|PMID:8773614|PMID:9384602|PMID:9851443|PMID:9851450|PMID:9915968 3425 Psen1 presenilin 1 gene DOID:1059 intellectual disability ISO RGD:731724 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 3425 Psen1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:7596406|PMID:15622541|PMID:16449385|PMID:16651627|PMID:17192785|PMID:17573346|PMID:17962197|PMID:18227305|PMID:22507317|PMID:25352456|PMID:25714973|PMID:27117003|PMID:27567873|PMID:28448946|PMID:31467635 3425 Psen1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:1302519|PMID:7596406 19990101 RGD DNA:missense mutations:cds:multiple (human) 3425 Psen1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:13782044|PMID:29641600 20180815 RGD 3425 Psen1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease | ClinVar Annotator: match by term: Familial Alzheimer disease PMID:10075646|PMID:10208579|PMID:10643802|PMID:11198283|PMID:11389157|PMID:11524469|PMID:12192622|PMID:12615638|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16267640|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20008660|PMID:20194882|PMID:20802216|PMID:21959359|PMID:22810102|PMID:22906081|PMID:23638752|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26194182|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27777022|PMID:27930341|PMID:28082723|PMID:28350801|PMID:28492532|PMID:28554858|PMID:28749476|PMID:29142009|PMID:30090657|PMID:30279455|PMID:32588886|PMID:33769986|PMID:34603009|PMID:8773614|PMID:9384602|PMID:9452052|PMID:9851443|PMID:9851450|PMID:9915968 3425 Psen1 presenilin 1 gene DOID:11088 asphyxia neonatorum ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 3425 Psen1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15122701|PMID:15622541 3425 Psen1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:7240710 20130221 OMIM 3425 Psen1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:11389157|PMID:15122701|PMID:20301414|PMID:25741868|PMID:28492532|PMID:9450754 3425 Psen1 presenilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 3425 Psen1 presenilin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17186461 3425 Psen1 presenilin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11389157|PMID:17186461|PMID:25741868|PMID:28492532 3425 Psen1 presenilin 1 gene DOID:1561 cognitive disorder ISO RGD:731724 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 3425 Psen1 presenilin 1 gene DOID:630 genetic disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3425 Psen1 presenilin 1 gene DOID:8927 learning disability ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25213453 3425 Psen1 presenilin 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:29142009|PMID:30822634|PMID:32235595 3425 Psen1 presenilin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735973 D RGD:1580694|PMID:16079160 19990101 RGD 3425 Psen1 presenilin 1 gene DOID:9002720 Splenomegaly ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 3425 Psen1 presenilin 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731724 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:10327206|PMID:10441572|PMID:11102478|PMID:11836371|PMID:11959395|PMID:11978814|PMID:16033913|PMID:16651627|PMID:16941492|PMID:19021905|PMID:19849793|PMID:20083199|PMID:20634584|PMID:21685457|PMID:21726674|PMID:22188655|PMID:22475797|PMID:22503161|PMID:22572737|PMID:23539189|PMID:23579325|PMID:23705774|PMID:24158021|PMID:25741868|PMID:26438723|PMID:26467025|PMID:26481686|PMID:26756738|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:7585193|PMID:8634712|PMID:9172170|PMID:9521423 3425 Psen1 presenilin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:731724 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:19522546|PMID:33971107 3425 Psen1 presenilin 1 gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:731724 D RGD:11554173 20180213 CTD CTD Direct Evidence: marker/mechanism 3425 Psen1 presenilin 1 gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia PMID:11920851|PMID:15534188|PMID:25741868 3425 Psen1 presenilin 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735973 D RGD:1302520|PMID:9160754 19990101 RGD 3425 Psen1 presenilin 1 gene DOID:9003126 Hallucinations ISO RGD:731724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Visual hallucinations PMID:25741868 3425 Psen1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:7240710 20210721 OMIM 3425 Psen1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 3 PMID:11389157|PMID:20929727|PMID:25741868|PMID:28492532 3425 Psen1 presenilin 1 gene DOID:9005832 Amyloid Plaques ISO RGD:731724 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33096116 3425 Psen1 presenilin 1 gene DOID:9006051 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis ISO RGD:731724 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis PMID:24121961|PMID:25741868 3425 Psen1 presenilin 1 gene DOID:9006129 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques PMID:10720282|PMID:11198283|PMID:11524469|PMID:12111359|PMID:12370477|PMID:12493737|PMID:14557582|PMID:15159497|PMID:15732120|PMID:16033913|PMID:19667325|PMID:20634584|PMID:22461631|PMID:22766738|PMID:24217025|PMID:25471389|PMID:25741868|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:33440141|PMID:7550356|PMID:8733749|PMID:8755489|PMID:9172170|PMID:9546792 3425 Psen1 presenilin 1 gene DOID:9006205 Animal Disease Models ISO RGD:731724 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:16651627|PMID:27567873 3425 Psen1 presenilin 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:731724 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 3425 Psen1 presenilin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731724 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:9172170 3425 Psen1 presenilin 1 gene DOID:9007402 Gliosis ISO RGD:731724 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 3425 Psen1 presenilin 1 gene DOID:9008023 Memory Disorders ISO RGD:731724 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:25213453|PMID:27567873|PMID:28448946 3425 Psen1 presenilin 1 gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 3425 Psen1 presenilin 1 gene DOID:9120 amyloidosis ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 3425 Psen1 presenilin 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:731724 D RGD:1331525|PMID:15118671 19990101 GAD 3425 Psen1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11094121 3425 Psen1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:7240710 20130221 OMIM 3425 Psen1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia PMID:11094121|PMID:11389157|PMID:11895378|PMID:12399144|PMID:15776278|PMID:17431506|PMID:20301414|PMID:20332427|PMID:20634584|PMID:22475797|PMID:25741868|PMID:26467025|PMID:26756738|PMID:28492532|PMID:30279455|PMID:31153663 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:0050553 JMP syndrome ISO RGD:731895 D RGD:7240710 20150715 OMIM 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:0050553 JMP syndrome ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:16199547|PMID:20159315|PMID:20534754|PMID:21129723|PMID:21881205|PMID:21953331|PMID:23768303|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:28895430|PMID:8495043 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:0060009 MHC class I deficiency ISO RGD:731895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:731895 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:731895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:630 genetic disease ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3426 Psmb8 proteasome 20S subunit beta 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731895 D RGD:1331525|PMID:15118671 19990101 GAD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:0050553 JMP syndrome ISO RGD:737219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:0060058 lymphoma ISO RGD:737219 D RGD:6483350|PMID:17609424 20120521 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:0080199 colorectal carcinoma ISO RGD:737219 D RGD:6483362|PMID:14750179 20120521 RGD protein: decreased expression 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:10316 pneumoconiosis ISO RGD:737219 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737219 D RGD:6483444|PMID:22363101 20120522 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:12306 vitiligo ISO RGD:737219 D RGD:1578358|PMID:14551602 20120521 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:737219 D RGD:6483364|PMID:14684867 20120521 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:13976 peptic esophagitis IEP D RGD:9854630|PMID:23942904 20150407 RGD protein:decreased expression:esophageal epithelium (rat) 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:1459 hypothyroidism ISO RGD:11180 D RGD:6483332|PMID:19924240 20120517 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:2377 multiple sclerosis ISO RGD:737219 D RGD:6483446|PMID:20174631 20120522 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:2722 acrodermatitis ISO RGD:737219 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:3459 breast carcinoma IEP D RGD:9854639|PMID:21889127 20150407 RGD protein:altered expression:tumor (rat) 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:737219 D RGD:6482249|PMID:19492245 20120518 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:4450 renal cell carcinoma ISO RGD:737219 D RGD:9999148|PMID:11788900 20150408 RGD DNA:snp:promoter:g.-151G>T (human) 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:630 genetic disease ISO RGD:737219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:7147 ankylosing spondylitis ISO RGD:737219 D RGD:6483349|PMID:22034108 20120521 RGD DNA: snp: rs17587 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:7188 autoimmune thyroiditis ISO RGD:737219 D RGD:6483439|PMID:12189117 20120522 RGD DNA:missense mutation: cds: Arg60His 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:737219 D RGD:6483332|PMID:19924240 20120517 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:8893 psoriasis ISO RGD:737219 D RGD:6482263|PMID:17581627 20120521 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis ISO RGD:737219 D RGD:6483462|PMID:15603870 20120522 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis no_association ISO RGD:737219 D RGD:6483495|PMID:9496154 20120523 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9004268 Uterine Neoplasms ISO RGD:11180 D RGD:6483440|PMID:11782352 20120522 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9004283 Transplant Rejection severity IEP D RGD:9854627|PMID:22834313 20150407 RGD protein:increased expression:liver, kidney (rat) 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9850284|PMID:20968039 20150406 RGD mRNA:increased expression:hippocampus (rat) 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9007355 Hashimoto Disease ISO RGD:737219 D RGD:6483332|PMID:19924240 20120517 RGD 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:737219 D RGD:7240710 20190315 OMIM 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:737219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 PMID:25741868|PMID:26524591 3427 Psmb9 proteasome 20S subunit beta 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11180 D RGD:6483441|PMID:11717249 20120522 RGD 3428 Psmc2 proteasome 26S subunit, ATPase 2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 3428 Psmc2 proteasome 26S subunit, ATPase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732979 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3428 Psmc2 proteasome 26S subunit, ATPase 2 gene DOID:630 genetic disease ISO RGD:732979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3429 Psme1 proteasome activator subunit 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 3429 Psme1 proteasome activator subunit 1 gene DOID:305 carcinoma ISO RGD:733032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3429 Psme1 proteasome activator subunit 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733032 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 3429 Psme1 proteasome activator subunit 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 3429 Psme1 proteasome activator subunit 1 gene DOID:630 genetic disease ISO RGD:733032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3429 Psme1 proteasome activator subunit 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 3429 Psme1 proteasome activator subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3429 Psme1 proteasome activator subunit 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3429 Psme1 proteasome activator subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3430 Psme2 proteasome activator subunit 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 3430 Psme2 proteasome activator subunit 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733724 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 3430 Psme2 proteasome activator subunit 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 3430 Psme2 proteasome activator subunit 2 gene DOID:630 genetic disease ISO RGD:733724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3430 Psme2 proteasome activator subunit 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 3430 Psme2 proteasome activator subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3430 Psme2 proteasome activator subunit 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3431 Bpifa2 BPI fold containing family A, member 2 gene DOID:303 substance-related disorder ISO RGD:1351299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 3431 Bpifa2 BPI fold containing family A, member 2 gene DOID:630 genetic disease ISO RGD:1351299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3432 Pspn persephin gene DOID:0080490 mucolipidosis type IV ISO RGD:736997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 3432 Pspn persephin gene DOID:630 genetic disease ISO RGD:736997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3433 Ptgds prostaglandin D2 synthase gene DOID:0050777 Joubert syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 3433 Ptgds prostaglandin D2 synthase gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:0081097 Rafiq syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 3433 Ptgds prostaglandin D2 synthase gene DOID:10003 sensorineural hearing loss IEP D RGD:7349365|PMID:23827367 20130923 RGD protein:decreased expression:cochlea: 3433 Ptgds prostaglandin D2 synthase gene DOID:10763 hypertension ISO RGD:737496 D RGD:1642584|PMID:11882588 20071002 RGD protein:increased expression:serum, urine 3433 Ptgds prostaglandin D2 synthase gene DOID:11664 nephrosclerosis ISO RGD:737496 D RGD:1642584|PMID:11882588 20071002 RGD associated with Hypertension;protein:increased expression:serum, urine 3433 Ptgds prostaglandin D2 synthase gene DOID:1826 epilepsy ISO RGD:737496 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 3433 Ptgds prostaglandin D2 synthase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:11182 D RGD:1642581|PMID:15970590 20071002 RGD 3433 Ptgds prostaglandin D2 synthase gene DOID:3407 carotid artery disease susceptibility ISO RGD:737496 D RGD:1642582|PMID:15325247 20071002 RGD associated with Hypertension;DNA:polymorphism:3'utr:4111A>C 3433 Ptgds prostaglandin D2 synthase gene DOID:3652 Leigh disease ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11182 D RGD:1642581|PMID:15970590 20071002 RGD 3433 Ptgds prostaglandin D2 synthase gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 3433 Ptgds prostaglandin D2 synthase gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:11182 D RGD:1642581|PMID:15970590 20071002 RGD 3433 Ptgds prostaglandin D2 synthase gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1642580|PMID:16384826 20071002 RGD protein:increased expression:urine 3434 Ptger1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment IMP D RGD:10043357|PMID:10807413 20150522 RGD 3434 Ptger1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:735522 D RGD:10043357|PMID:10807413 20180724 RGD 3434 Ptger1 prostaglandin E receptor 1 gene DOID:11111 hydronephrosis ISO RGD:733054 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30641090 3434 Ptger1 prostaglandin E receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21739481 3434 Ptger1 prostaglandin E receptor 1 gene DOID:1876 sexual dysfunction ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18726914 3434 Ptger1 prostaglandin E receptor 1 gene DOID:299 adenocarcinoma ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 3434 Ptger1 prostaglandin E receptor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 3434 Ptger1 prostaglandin E receptor 1 gene DOID:630 genetic disease ISO RGD:733054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3434 Ptger1 prostaglandin E receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 3434 Ptger1 prostaglandin E receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11375261 3434 Ptger1 prostaglandin E receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 3435 Ptger3 prostaglandin E receptor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 3435 Ptger3 prostaglandin E receptor 3 gene DOID:0060001 withdrawal disorder treatment IMP D RGD:10043351|PMID:10708732 20150522 RGD 3435 Ptger3 prostaglandin E receptor 3 gene DOID:0060500 drug allergy ISO RGD:731378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20587336 3435 Ptger3 prostaglandin E receptor 3 gene DOID:0060903 thrombosis ISO RGD:731378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17242161 3435 Ptger3 prostaglandin E receptor 3 gene DOID:1059 intellectual disability ISO RGD:731378 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 3435 Ptger3 prostaglandin E receptor 3 gene DOID:10976 membranous glomerulonephritis IEP D RGD:10043359|PMID:14636300 20150522 RGD mRNA:increased expression:renal cortex (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:731378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 3435 Ptger3 prostaglandin E receptor 3 gene DOID:11656 cicatricial pemphigoid ISO RGD:731378 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 3435 Ptger3 prostaglandin E receptor 3 gene DOID:127 leiomyoma ISO RGD:731378 D RGD:10043352|PMID:17407572 20150522 RGD mRNA:increased expression:uterine myometrium (human) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:1591 renovascular hypertension IEP D RGD:1642130|PMID:16788145 20150522 RGD protein:increased expression:kidney (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:219 colon cancer IEP D RGD:9850265|PMID:15247185 20150402 RGD mRNA:decreased expression:colon mucosa (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:2841 asthma treatment IMP D RGD:10043366|PMID:23221044 20150526 RGD 3435 Ptger3 prostaglandin E receptor 3 gene DOID:630 genetic disease ISO RGD:731378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9000197 Edema treatment IMP D RGD:10043358|PMID:8138964 20150522 RGD 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9000972 Fever ISO RGD:731379 D RGD:737727|PMID:9751056 19990101 RGD 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9000998 Brain Injuries IEP D RGD:9850280|PMID:15234107 20150406 RGD protein:increased expression:striatum, microglia (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9002211 Hyperalgesia IEP D RGD:5688169|PMID:17413918 20150522 RGD protein:increased expression:lumbar spinal cord dorsal horn (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:10043194|PMID:15990166 20150519 RGD mRNA, protein:increased expression:placenta (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:9850261|PMID:12821538 20150402 RGD protein:increased expression:retina (rat) 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:731379 D RGD:9850265|PMID:15247185 20150402 RGD 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9006937 NSAID-Enteropathy treatment IMP D RGD:10003093|PMID:11991626 20150610 RGD 3435 Ptger3 prostaglandin E receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:10043342|PMID:10193764 20150521 RGD 3436 Ptgfr prostaglandin F receptor gene DOID:2661 myoepithelioma ISO RGD:737369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3436 Ptgfr prostaglandin F receptor gene DOID:289 endometriosis ISO RGD:737369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 3436 Ptgfr prostaglandin F receptor gene DOID:630 genetic disease ISO RGD:737369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3436 Ptgfr prostaglandin F receptor gene DOID:9005700 Airway Obstruction ISO RGD:737369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1219628 3437 Ptgfrn prostaglandin F2 receptor inhibitor gene DOID:0080600 COVID-19 ISO RGD:733934 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3437 Ptgfrn prostaglandin F2 receptor inhibitor gene DOID:630 genetic disease ISO RGD:733934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3438 Ptgis prostaglandin I2 synthase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 3438 Ptgis prostaglandin I2 synthase gene DOID:0050860 colorectal adenoma susceptibility ISO RGD:736622 D RGD:151347835|PMID:16537708 20220202 RGD DNA:repeats:promoter: 3438 Ptgis prostaglandin I2 synthase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736622 D RGD:151347832|PMID:30532780 20220202 RGD mRNA,protein:decreased expression:mouth mucosa (human) 3438 Ptgis prostaglandin I2 synthase gene DOID:0060041 autism spectrum disorder ISO RGD:736622 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3438 Ptgis prostaglandin I2 synthase gene DOID:10763 hypertension ISO RGD:736622 D RGD:1298040|PMID:12372404 19990101 RGD 3438 Ptgis prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:7240710 20130221 OMIM 3438 Ptgis prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:12372404|PMID:25741868 3438 Ptgis prostaglandin I2 synthase gene DOID:13832 patent ductus arteriosus ISO RGD:736622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 3438 Ptgis prostaglandin I2 synthase gene DOID:219 colon cancer exacerbates ISO RGD:11183 D RGD:11536046|PMID:26611322 20220202 RGD 3438 Ptgis prostaglandin I2 synthase gene DOID:2316 brain ischemia IDA D RGD:8693629|PMID:16094316 19990101 RGD 3438 Ptgis prostaglandin I2 synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736622 D RGD:9068941 20220204 RGD protein:decreased expression:lung (human) PMID:16314486|REF_RGD_ID:151347842 3438 Ptgis prostaglandin I2 synthase gene DOID:630 genetic disease ISO RGD:736622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3438 Ptgis prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension IDA D RGD:1580695|PMID:15684702 19990101 RGD 3438 Ptgis prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension susceptibility IMP D RGD:727270|PMID:10359560 19990101 RGD rat gene in a mouse model 3438 Ptgis prostaglandin I2 synthase gene DOID:8283 peritonitis ameliorates ISO RGD:11183 D RGD:11536046|PMID:26611322 20220202 RGD 3438 Ptgis prostaglandin I2 synthase gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:736622 D RGD:9068941 20220204 RGD associated with colorectal cancer; protein:increased expression:colorectum (human) PMID:22109564|REF_RGD_ID:151347833 3438 Ptgis prostaglandin I2 synthase gene DOID:9001048 Nociceptive Pain ameliorates ISO RGD:11183 D RGD:11536046|PMID:26611322 20220202 RGD 3438 Ptgis prostaglandin I2 synthase gene DOID:9003281 Spontaneous Abortions ISO RGD:736622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3438 Ptgis prostaglandin I2 synthase gene DOID:9005172 Lung Neoplasms ISO RGD:736622 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11830527 3438 Ptgis prostaglandin I2 synthase gene DOID:9007491 Childhood Schizophrenia ISO RGD:736622 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:736739 D RGD:126907998|PMID:26498950 20210506 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736739 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0060500 drug allergy ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0080322 polycystic kidney disease IEP D RGD:2300262|PMID:17537981 20080910 RGD protein:increased expression:kidney 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0080820 occupational asthma ISO RGD:736739 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10591 pre-eclampsia ISS RGD:11184 D RGD:13592920 20180518 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease IMP D RGD:5688147|PMID:21701788 20111007 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11184 D RGD:5688156|PMID:20157512 20120220 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736739 D RGD:5688249|PMID:10560656 20120222 RGD protein:increased expression:cerebral cortex 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10808 gastric ulcer ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:19066340 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736739 D RGD:5688237|PMID:12663931 20120222 RGD mRNA, protein:increased expression:macrophage, endothelial cell 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:13413 hepatic encephalopathy IMP D RGD:5688266|PMID:21575628 20120223 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:1591 renovascular hypertension IMP D RGD:2300258|PMID:17766473 20080910 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:1612 breast cancer ISO RGD:736739 D RGD:2300213|PMID:9521170 20080909 RGD protein:increased expression:breast 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:1686 glaucoma ISO RGD:736739 D RGD:5688244|PMID:11391707 20120222 RGD protein:increased expression:microglia 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:11184 D RGD:5688240|PMID:11740205 20120222 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:736739 D RGD:5688247|PMID:10867793 20120222 RGD protein:increased expression:microglia, macrophage 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2394 ovarian cancer ISO RGD:736739 D RGD:2300211|PMID:12615701 20080908 RGD mRNA, protein:increased expression:ovary 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:736739 D RGD:2300125|PMID:18416056 20080905 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2893 cervix carcinoma disease_progression ISO RGD:736739 D RGD:2300207|PMID:16803521 20080908 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:305 carcinoma ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma IEP D RGD:5688250|PMID:10229132 20120222 RGD protein:increased expression:microglia, macrophage, 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:736739 D RGD:5688245|PMID:11121536 20120222 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3071 gliosarcoma IEP D RGD:5688250|PMID:10229132 20120222 RGD protein:increased expression:microglia, macrophage, 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3312 bipolar disorder ISO RGD:736739 D RGD:5688160|PMID:20038946 20120220 RGD mRNA, protein:decreased expression:prefrontal cortex 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:4450 renal cell carcinoma IEP D RGD:2300212|PMID:12708469 20080909 RGD mRNA:increased expression:kidney 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:4914 esophagus adenocarcinoma IEP D RGD:5687745|PMID:22165968 20120210 RGD mRNA,protein:increased expression:Esophagus 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:5119 ovarian cyst ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:630 genetic disease ISO RGD:736739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736739 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:15167967 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:8577 ulcerative colitis IMP D RGD:2300267|PMID:17429720 20080910 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5688246|PMID:11063829 20120222 RGD protein:increased expression:microglia, macrophage 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5688221|PMID:17184185 20120221 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain IEP D RGD:2300223|PMID:18637715 20080909 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain IMP D RGD:2300252|PMID:17942724 20080909 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:2290567|PMID:17699727 20080910 RGD protein:increased expression:intestine 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries IEP D RGD:5688242|PMID:11565600 20120222 RGD protein:increased expression:microglia, macrophage 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:11184 D RGD:5688162|PMID:19719848 20120220 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:736739 D RGD:5688239|PMID:12005397 20120222 RGD protein:increased expression:microglial cells, macrophage, endothelial cell 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001240 Peripheral Nerve Injuries disease_progression IEP D RGD:5688234|PMID:14576556 20120222 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001472 Nasal Polyps ISO RGD:736739 D RGD:5143924|PMID:16517580 20111007 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001642 Intestinal Polyps ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:12189188 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia IEP D RGD:5688169|PMID:17413918 20120220 RGD protein:increased expression:spinal cord 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17989504 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:5687744|PMID:22289897 20120210 RGD mRNA, protein:increased expression:synovium 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:11184 D RGD:2300208|PMID:15867369 20080908 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5688250|PMID:10229132 20120222 RGD protein:increased expression:microglia, macrophage, 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11184 D RGD:5688149|PMID:21667309 20120220 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736739 D RGD:5147461|PMID:19364335 20110805 RGD protein:increased expression:respiratory system epithelium 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:5688223|PMID:16385084 20120221 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:727386|PMID:12086957 20120227 RGD protein:decreased expression:spinal cord 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:5688236|PMID:12916703 20120222 RGD protein:increased expression: 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9007278 Anaphylaxis IMP D RGD:2300247|PMID:18480553 20080909 RGD 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9007763 Flushing ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16343605 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736739 D RGD:5147461|PMID:19364335 20110805 RGD protein:increased expression:respiratory system epithelium 3439 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18488158 3440 Pth parathyroid hormone gene DOID:0050459 hyperphosphatemia IDA D RGD:7242565|PMID:23548309 20130412 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12399635 3440 Pth parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:7242693|PMID:23211335 20130416 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:11186 D RGD:7242924|PMID:19570882 20130426 RGD protein:decreased expression:plasma (mouse) 3440 Pth parathyroid hormone gene DOID:0060224 atrial fibrillation ISO RGD:69107 D RGD:7242420|PMID:23460043 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:0080011 bone resorption disease ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9881647 3440 Pth parathyroid hormone gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:69107 D RGD:7242417|PMID:23470222 20130404 RGD protein:decreased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:0090109 autosomal dominant hypocalcemia IEP D RGD:7242904|PMID:22581996 20130425 RGD protein:increased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:69107 D RGD:11554173 20200526 CTD CTD Direct Evidence: marker/mechanism 3440 Pth parathyroid hormone gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:69107 D RGD:1598941|PMID:2212001 20070104 RGD DNA:missense mutation:cds:p.C18R (human) 3440 Pth parathyroid hormone gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:1302009|PMID:1425431|PMID:18784115|PMID:24033266|PMID:25741868|PMID:28492532 3440 Pth parathyroid hormone gene DOID:1059 intellectual disability ISO RGD:69107 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3440 Pth parathyroid hormone gene DOID:10609 rickets ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 3440 Pth parathyroid hormone gene DOID:10754 otitis media ISO RGD:69107 D RGD:7242409|PMID:23543299 20130403 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1930854 3440 Pth parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:7242420|PMID:23460043 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:11202 primary hyperparathyroidism ISO RGD:69107 D RGD:7242421|PMID:23447517 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:11202 primary hyperparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:1425431|PMID:18784115|PMID:25741868 3440 Pth parathyroid hormone gene DOID:11476 osteoporosis IEP D RGD:7242907|PMID:22312238 20130425 RGD protein:decreased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:69107 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:15710971|PMID:17317460|PMID:17882678|PMID:19578808|PMID:21306167|PMID:30639440 3440 Pth parathyroid hormone gene DOID:11476 osteoporosis treatment IDA D RGD:7242793|PMID:23161222 20130423 RGD 3440 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism IDA D RGD:7242414|PMID:23499504 20130404 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism IEP D RGD:5135046|PMID:21335517 20120322 RGD associated with Uremia 3440 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:21350317|PMID:22118402|PMID:22373954 3440 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:7242728|PMID:23121374 20130417 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:7242750|PMID:12046039 20130418 RGD associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human) 3440 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:69107 D RGD:7242411|PMID:23529273 20130404 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:12678 hypercalcemia IDA D RGD:7242689|PMID:23261531 20130416 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4004906|PMID:7891547|PMID:9382671|PMID:10638776|PMID:12399635|PMID:17164314 3440 Pth parathyroid hormone gene DOID:12679 nephrocalcinosis IDA D RGD:7242573|PMID:23344571 20130415 RGD 3440 Pth parathyroid hormone gene DOID:13068 renal osteodystrophy ISO RGD:69107 D RGD:7242687|PMID:18480316 20130416 RGD associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:205 hyperostosis ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 3440 Pth parathyroid hormone gene DOID:2355 anemia ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15354979|PMID:19578808 3440 Pth parathyroid hormone gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:69107 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:24803734 3440 Pth parathyroid hormone gene DOID:3347 osteosarcoma ISO RGD:69107 D RGD:7242897|PMID:22688001 20130424 RGD human protein in rat model 3440 Pth parathyroid hormone gene DOID:3393 coronary artery disease ISO RGD:69107 D RGD:7242420|PMID:23460043 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:4676 uremia IEP D RGD:7242742|PMID:22902873 20130418 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:4676 uremia ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2051637 3440 Pth parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17162251 3440 Pth parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:7242422|PMID:21939825 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:630 genetic disease ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3440 Pth parathyroid hormone gene DOID:783 end stage renal disease IEP D RGD:7242564|PMID:23548814 20130412 RGD protein:increased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:783 end stage renal disease severity ISO RGD:69107 D RGD:7242692|PMID:23243213 20130416 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:784 chronic kidney disease IDA D RGD:7242949|PMID:22517117 20130429 RGD 3440 Pth parathyroid hormone gene DOID:784 chronic kidney disease IEP D RGD:7242935|PMID:21826734 20130426 RGD protein:decreased expression:plasma (rat) 3440 Pth parathyroid hormone gene DOID:784 chronic kidney disease severity ISO RGD:69107 D RGD:7242412|PMID:23528898 20130404 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:11186 D RGD:7242572|PMID:23345625 20130415 RGD 3440 Pth parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:69107 D RGD:7242418|PMID:23467111 20130404 RGD 3440 Pth parathyroid hormone gene DOID:7998 hyperthyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperthyroidism PMID:1425431|PMID:18784115|PMID:25741868 3440 Pth parathyroid hormone gene DOID:8929 atrophic gastritis ISO RGD:69107 D RGD:7242421|PMID:23447517 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:7240710 20200520 OMIM 3440 Pth parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 PMID:10523031|PMID:18056632|PMID:2212001|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3005800 3440 Pth parathyroid hormone gene DOID:9001542 Albuminuria ISO RGD:69107 D RGD:7242730|PMID:23066118 20130417 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:9001547 Tibial Fractures ISO RGD:69107 D RGD:7242790|PMID:23585311 20130423 RGD human protein in rat model 3440 Pth parathyroid hormone gene DOID:9001738 Hypercalciuria ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17164314 3440 Pth parathyroid hormone gene DOID:9002165 Diabetic Nephropathies ISO RGD:69107 D RGD:7242744|PMID:22777106 20130418 RGD DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) (human) 3440 Pth parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16094769 3440 Pth parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:7242731|PMID:23043229 20130417 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:9004331 Parathyroid Neoplasms ISO RGD:69107 D RGD:7242410|PMID:23534747 20130403 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:9004397 calcification of aortic valve disease_progression IEP D RGD:7242900|PMID:22634235 20130424 RGD protein:increased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69107 D RGD:7242699|PMID:23168286 20130416 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:69107 D RGD:7242899|PMID:22647434 20130424 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20567999 3440 Pth parathyroid hormone gene DOID:9005354 Hypoparathyroidism, Autosomal Recessive ISO RGD:69107 D RGD:1598943|PMID:1302009 20130424 RGD DNA:snp:intron:IVS2+1G>C (human) 3440 Pth parathyroid hormone gene DOID:9006205 Animal Disease Models ISO RGD:69107 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:30639440 3440 Pth parathyroid hormone gene DOID:9006332 Vascular Calcification IDA D RGD:7242416|PMID:23486515 20130404 RGD associated with Kidney Failure, Chronic 3440 Pth parathyroid hormone gene DOID:9006332 Vascular Calcification disease_progression IEP D RGD:7242900|PMID:22634235 20130424 RGD protein:increased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:9006849 Phosphaturia IEP D RGD:8655928|PMID:22859939 20140523 RGD protein:decreased expression:serum (rat) 3440 Pth parathyroid hormone gene DOID:9007096 Stroke ISO RGD:69107 D RGD:7242420|PMID:23460043 20130404 RGD protein:increased expression:serum (human) 3440 Pth parathyroid hormone gene DOID:9007819 Endocrine Bone Diseases ISO RGD:69107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 3440 Pth parathyroid hormone gene DOID:9009050 Hypocalcemia ISO RGD:69107 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:11701698|PMID:11770836 3440 Pth parathyroid hormone gene DOID:9352 type 2 diabetes mellitus ISO RGD:69107 D RGD:7242744|PMID:22777106 20130418 RGD DNA:snp:exon:g.350C>A rs6256 (human) 3440 Pth parathyroid hormone gene DOID:9744 type 1 diabetes mellitus ISO RGD:69107 D RGD:7242744|PMID:22777106 20130418 RGD DNA:snp:exon:g.350C>A rs6256 (human) 3441 Pthlh parathyroid hormone-like hormone gene DOID:0080011 bone resorption disease ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 3441 Pthlh parathyroid hormone-like hormone gene DOID:0080053 Albright's hereditary osteodystrophy ISS RGD:11188 D RGD:13592920 20180518 MouseDO OMIM:103580 3441 Pthlh parathyroid hormone-like hormone gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 3441 Pthlh parathyroid hormone-like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:7240710 20130221 OMIM 3441 Pthlh parathyroid hormone-like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type E2 PMID:20170896|PMID:25741868|PMID:25801215|PMID:26763883|PMID:29947179|PMID:31283647 3441 Pthlh parathyroid hormone-like hormone gene DOID:12678 hypercalcemia ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3616618|PMID:10638776|PMID:11054717|PMID:12358896 3441 Pthlh parathyroid hormone-like hormone gene DOID:169 neuroendocrine tumor ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 3441 Pthlh parathyroid hormone-like hormone gene DOID:1793 pancreatic cancer ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 3441 Pthlh parathyroid hormone-like hormone gene DOID:3908 lung non-small cell carcinoma ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17676588 3441 Pthlh parathyroid hormone-like hormone gene DOID:4480 achondroplasia ISS RGD:11188 D RGD:13592920 20180518 MouseDO OMIM:100800 3441 Pthlh parathyroid hormone-like hormone gene DOID:4988 alcoholic pancreatitis ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22280800 3441 Pthlh parathyroid hormone-like hormone gene DOID:630 genetic disease ISO RGD:736996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20170896|PMID:24028571|PMID:25801215|PMID:26640227|PMID:26733284|PMID:26763883|PMID:28211986|PMID:28492532 3441 Pthlh parathyroid hormone-like hormone gene DOID:850 lung disease ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 3441 Pthlh parathyroid hormone-like hormone gene DOID:9000067 Congenital Foot Deformities ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 3441 Pthlh parathyroid hormone-like hormone gene DOID:9000139 Superior Vena Cava Syndrome ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12358896 3441 Pthlh parathyroid hormone-like hormone gene DOID:9000197 Edema ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 3441 Pthlh parathyroid hormone-like hormone gene DOID:9002211 Hyperalgesia ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 3441 Pthlh parathyroid hormone-like hormone gene DOID:9002304 Prostatic Neoplasms ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16243370 3441 Pthlh parathyroid hormone-like hormone gene DOID:9003281 Spontaneous Abortions ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3441 Pthlh parathyroid hormone-like hormone gene DOID:9004795 Congenital Hand Deformities ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 3441 Pthlh parathyroid hormone-like hormone gene DOID:9006081 Osteolysis ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 3441 Pthlh parathyroid hormone-like hormone gene DOID:9006190 Chronic Pancreatitis ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 3441 Pthlh parathyroid hormone-like hormone gene DOID:9006257 Growth Disorders ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 3441 Pthlh parathyroid hormone-like hormone gene DOID:9007346 Cachexia ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 3441 Pthlh parathyroid hormone-like hormone gene DOID:9008939 Breast Neoplasms ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 3441 Pthlh parathyroid hormone-like hormone gene DOID:9538 multiple myeloma ISO RGD:736996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0050591 tooth agenesis ISO RGD:731312 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:25741868 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:7240710 20190315 OMIM 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type PMID:10523019|PMID:17164305|PMID:17576681|PMID:18559376|PMID:21404329|PMID:23771181|PMID:25741868|PMID:28492532|PMID:31986066|PMID:3975110|PMID:9268097|PMID:9536098|PMID:9649554|PMID:9745456 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:7240710 20190315 OMIM 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type PMID:10487664|PMID:17576681|PMID:18559376|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:12910706|PMID:24058597 20170621 RGD DNA:deletions, missense mutations, nonsense mutation:exon:multiple 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:12910708|PMID:19061984 20170621 RGD DNA:nonsense mutation, splice-site mutations:p.E155X (c.463G>T), c.543+1G>A, c.1050-3C>G (human) 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:7240710 20190315 OMIM 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary failure of tooth eruption PMID:17576681|PMID:19061984|PMID:23771181|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098|PMID:9745456 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:12910707|PMID:15525660 20170621 RGD DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human) 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:7240710 20190315 OMIM 3442 Pth1r parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eiken syndrome PMID:15525660|PMID:25741868|PMID:28492532|PMID:29987841|PMID:31297790 3442 Pth1r parathyroid hormone 1 receptor gene DOID:10609 rickets ISO RGD:731312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 3442 Pth1r parathyroid hormone 1 receptor gene DOID:12678 hypercalcemia IDA D RGD:1599980|PMID:16036863 20070222 RGD protein:increased expression:odontoblast; associated with neoplasms 3442 Pth1r parathyroid hormone 1 receptor gene DOID:13543 hyperparathyroidism ISO RGD:731312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11014383 3442 Pth1r parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:25741868 3442 Pth1r parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:731312 D RGD:1599978|PMID:8703170 20070222 RGD DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400 3442 Pth1r parathyroid hormone 1 receptor gene DOID:4184 pseudohypoparathyroidism ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:25741868|PMID:35846276 3442 Pth1r parathyroid hormone 1 receptor gene DOID:630 genetic disease ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3442 Pth1r parathyroid hormone 1 receptor gene DOID:65 connective tissue disease ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18559376|PMID:25741868|PMID:28492532 3442 Pth1r parathyroid hormone 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731312 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 3442 Pth1r parathyroid hormone 1 receptor gene DOID:850 lung disease ISO RGD:731312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 3442 Pth1r parathyroid hormone 1 receptor gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868 3442 Pth1r parathyroid hormone 1 receptor gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 3443 Ptk2 protein tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732757 D RGD:2292561|PMID:15564794 20080424 RGD protein:increased expression:breast 3443 Ptk2 protein tyrosine kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732757 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 3443 Ptk2 protein tyrosine kinase 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:732757 D RGD:2292562|PMID:15536334 20080424 RGD protein:increased expression:endometrium 3443 Ptk2 protein tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732757 D RGD:2292570|PMID:12242727 20080424 RGD protein:increased expression:prostate gland 3443 Ptk2 protein tyrosine kinase 2 gene DOID:10763 hypertension IAGP D RGD:729831|PMID:12732587 19990101 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:10763 hypertension IEP D RGD:10041072|PMID:21068519 20150511 RGD protein:increased expression:aorta 3443 Ptk2 protein tyrosine kinase 2 gene DOID:10952 nephritis treatment IDA D RGD:10041073|PMID:25176084 20150511 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:127 leiomyoma ISO RGD:732757 D RGD:2292569|PMID:12517589 20080424 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21401805|PMID:25199511 3443 Ptk2 protein tyrosine kinase 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732757 D RGD:2292562|PMID:15536334 20080424 RGD protein:increased expression:endometrium 3443 Ptk2 protein tyrosine kinase 2 gene DOID:289 endometriosis ISO RGD:732757 D RGD:2292555|PMID:17543958 20080423 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:2893 cervix carcinoma ISO RGD:732757 D RGD:2292568|PMID:14675348 20080424 RGD protein:increased tyrosine phosphorylation:cervix 3443 Ptk2 protein tyrosine kinase 2 gene DOID:3068 glioblastoma ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 3443 Ptk2 protein tyrosine kinase 2 gene DOID:326 ischemia IEP D RGD:2292577|PMID:17620366 20080424 RGD protein:decreased tyrosine phosphorylation:kidney 3443 Ptk2 protein tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:732757 D RGD:152176664|PMID:23906871 20220510 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:2292563|PMID:15455382 20080424 RGD protein:increased tyrosine phosphorylation:ovary 3443 Ptk2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:2292572|PMID:10526262 20080424 RGD protein:increased expression:ovary 3443 Ptk2 protein tyrosine kinase 2 gene DOID:4362 cervical cancer disease_progression ISO RGD:732757 D RGD:2292556|PMID:16638855 20080423 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:4676 uremia IEP D RGD:2292579|PMID:17514628 20080424 RGD protein:increased expression:parathyroid gland 3443 Ptk2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732757 D RGD:13825141|PMID:20802517 20181119 RGD DNA:CNV:: 3443 Ptk2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:732757 D RGD:13825133|PMID:21800286 20181116 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:732757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3443 Ptk2 protein tyrosine kinase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732757 D RGD:1581290|PMID:16244766 19990101 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma IMP D RGD:2292584|PMID:17203219 20080424 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 3443 Ptk2 protein tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732757 D RGD:152176664|PMID:23906871 20220510 RGD associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:2292560|PMID:15930288 20080424 RGD associated with Mammary Neoplasms, Experimental 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732758 D RGD:2292557|PMID:16547501 20080423 RGD associated with Mammary Neoplasms, Experimental 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2292604|PMID:15378782 20080425 RGD mRNA, protein:increased expression:liver 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2292577|PMID:17620366 20080424 RGD protein:increased tyrosine phosphorylation:kidney 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12811834|PMID:25199511 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:729831|PMID:12732587 20080425 RGD associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:2292560|PMID:15930288 20080424 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24809783 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:732758 D RGD:2292554|PMID:18056629 20080423 RGD 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:5130174|PMID:17913382 20080424 RGD associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25199511 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:2292558|PMID:16457699 20080424 RGD DNA:amplification 3443 Ptk2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:2292559|PMID:16136050 20080424 RGD protein:increased expression:breast 3444 Ptn pleiotrophin gene DOID:11446 sciatic neuropathy IEP D RGD:9831453|PMID:18365878 20150309 RGD mRNA:altered expression:dorsal root ganglia (rat) 3444 Ptn pleiotrophin gene DOID:11832 visual epilepsy IEP D RGD:9831456|PMID:8453763 20150309 RGD mRNA:increased expression:hippocampus, piriform cortex (rat) 3444 Ptn pleiotrophin gene DOID:13619 extrahepatic cholestasis IEP D RGD:2316551|PMID:18225978 20150529 RGD mRNA:increased expression:liver (rat) 3444 Ptn pleiotrophin gene DOID:14330 Parkinson's disease treatment IDA D RGD:10044022|PMID:19615368 20150601 RGD 3444 Ptn pleiotrophin gene DOID:224 transient cerebral ischemia IEP D RGD:9831440|PMID:9570800 20150309 RGD mRNA:increased expression:cerebral cortex, vasculature, macrophage (rat) 3444 Ptn pleiotrophin gene DOID:305 carcinoma ISO RGD:736479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3444 Ptn pleiotrophin gene DOID:3068 glioblastoma ISO RGD:736479 D RGD:151660507|PMID:14692702 20220307 RGD protein:increased expression:brain (human) 3444 Ptn pleiotrophin gene DOID:3950 adrenal carcinoma ISO RGD:736479 D RGD:9831442|PMID:1464602 20150309 RGD human gene in a mouse model 3444 Ptn pleiotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736479 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3444 Ptn pleiotrophin gene DOID:5082 liver cirrhosis IEP D RGD:9834946|PMID:18381592 20150310 RGD protein:increased expression:liver (rat) 3444 Ptn pleiotrophin gene DOID:5844 myocardial infarction IEP D RGD:10044023|PMID:17925408 20150601 RGD protein:increased expression:myocardium (rat) 3444 Ptn pleiotrophin gene DOID:630 genetic disease ISO RGD:736479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3444 Ptn pleiotrophin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3444 Ptn pleiotrophin gene DOID:9000641 Pain severity ISO RGD:11190 D RGD:10043829|PMID:20826137 20150529 RGD 3444 Ptn pleiotrophin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3444 Ptn pleiotrophin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:9831448|PMID:9814819 20150309 RGD mRNA:increased expression:spinal cord (rat) 3444 Ptn pleiotrophin gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:10043833|PMID:21224495 20150529 RGD protein:increased expression:heart left ventricle (rat) 3444 Ptn pleiotrophin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736479 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3444 Ptn pleiotrophin gene DOID:9007633 Body Weight ISO RGD:736479 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36566969 3444 Ptn pleiotrophin gene DOID:9008444 Skeletal Muscle Injuries IEP D RGD:10044016|PMID:15160487 20150601 RGD mRNA, protein:increased expression:soleus muscle (rat) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0014667 disease of metabolism ISS RGD:731747 D RGD:13592920 20180518 MouseDO 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:11066398|PMID:12717436 20170208 RGD DNA:missense mutations:cds:multiple (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22315502|PMID:26457647 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:7240710 20130221 OMIM 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:18925961|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19773259|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21555152|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23825065|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27783593|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050469 Costello syndrome ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0050868 hepatocellular adenoma ISS RGD:731747 D RGD:13592920 20180518 MouseDO 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060041 autism spectrum disorder ISO RGD:731746 D RGD:8554872 20201117 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060058 lymphoma ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CFC syndrome PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060249 scoliosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060250 idiopathic scoliosis ISS RGD:731747 D RGD:13592920 20220616 MouseDO 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060260 ptosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731746 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:7240710 20170920 OMIM 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25612910|PMID:2564168|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29758562|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0060581 Noonan syndrome 3 ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16467864|PMID:16498234|PMID:16638574|PMID:16733669|PMID:16804314|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18372317|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19706403|PMID:19737548|PMID:20112233|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20308328|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20931536|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22847776|PMID:22848035|PMID:23321623|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23756559|PMID:23771920|PMID:23832011|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24821303|PMID:24931631|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25326635|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25585602|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25914815|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27276561|PMID:27460089|PMID:27521173|PMID:27626068|PMID:27683039|PMID:27884971|PMID:28363362|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32901917|PMID:34008892|PMID:34782754 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:11062391|PMID:15520399 20170209 RGD DNA:missense mutations:cds:p.Y279S, p.Q510P (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:11062587|PMID:15121796 20170209 RGD DNA:missense mutations:cds:multiple (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:1601571|PMID:12058348 20070425 RGD DNA:missense mutations:exons:p.Y279C, p.T468M (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:7240710 20190320 OMIM 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28166811|PMID:28363362|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29907801|PMID:29988639|PMID:30266093|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30577886|PMID:30604644|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31573083|PMID:31827275|PMID:32164556|PMID:32165824|PMID:32581362|PMID:32627857|PMID:32860008|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32794475|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:15384080|PMID:16358218|PMID:24803665|PMID:25741868|PMID:27993330|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASD II PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0110962 brachydactyly-preaxial hallux varus syndrome ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dominant preaxial brachydactyly with hallux varus and thumb abduction PMID:11704759|PMID:12161469|PMID:12634870|PMID:14961557|PMID:14974085|PMID:15001945|PMID:16263833|PMID:16358218|PMID:16399795|PMID:16631468|PMID:17177198|PMID:17339163|PMID:18562489|PMID:18678287|PMID:19737548|PMID:22781091|PMID:24033266|PMID:25741868|PMID:26918529|PMID:28492532|PMID:32059087 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:7240710 20130221 OMIM 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19449407|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326637|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:22465605|PMID:28074573|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:731746 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:10534 stomach cancer ISO RGD:731746 D RGD:39128246|PMID:27614952 20200929 RGD DNA:SNPs::rs12229892, rs2301756(human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301303|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:26833328|PMID:28492532|PMID:34136434 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:10907 microcephaly ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11704759|PMID:11992261|PMID:12717436|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:18470943|PMID:18562489|PMID:19020799|PMID:19737548|PMID:19795160|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30325180|PMID:30410095|PMID:30417923|PMID:31134136|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:11168 anogenital venereal wart ISO RGD:731746 D RGD:39128248|PMID:18543080 20200929 RGD protein:increased expression:foreskin 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:11983 Prader-Willi syndrome ISO RGD:731746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:24451042|PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15987685|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17935252|PMID:17972951|PMID:18372317|PMID:18373317|PMID:18759865|PMID:18849586|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19737548|PMID:19825837|PMID:19864201|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21706501|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28363362|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:29907801|PMID:30025578|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731747 D RGD:11072362|PMID:22058153 20170208 RGD 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:731747 D RGD:13592920 20180518 MouseDO 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1240 leukemia ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15273746 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731746 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731747 D RGD:12743610|PMID:18316486 20170209 RGD 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISS RGD:731747 D RGD:13592920 20180518 MouseDO 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:13620 patent foramen ovale ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:13832 patent ductus arteriosus ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603483 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731747 D RGD:11070277|PMID:21339643 20170209 RGD 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1588 thrombocytopenia ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:162 cancer ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:26619011|PMID:27783593|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1686 glaucoma IEP D RGD:39456090|PMID:30341011 20201001 RGD protein:increased expression,increased phosphorylation:retina 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:731746 D RGD:39456090|PMID:30341011 20201001 RGD protein:increased phosphorylation:retina 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1686 glaucoma treatment IMP D RGD:39456090|PMID:30341011 20201001 RGD 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1712 aortic valve stenosis ISO RGD:731747 D RGD:734918|PMID:10700187 20170209 RGD with Egfr mutation 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:1749 squamous cell carcinoma ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:206 hereditary multiple exostoses ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21533187 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:2213 hemorrhagic disease ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:2340 craniosynostosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:2602 chondroma ISO RGD:731746 D RGD:11069623|PMID:20577567 20070425 RGD DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:299 adenocarcinoma ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3069 malignant astrocytoma ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:27783593|PMID:28098151|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:731746 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:26619011|PMID:26822237 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15273746|PMID:17603482|PMID:17603483|PMID:17703371 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:1581292|PMID:11992261 19990101 RGD DNA:missense mutations:cds:multiple (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34143244|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731747 D RGD:11352540|PMID:22371576 20170208 RGD 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3717 gastric adenocarcinoma ISO RGD:731746 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011|PMID:26822237 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:3910 lung adenocarcinoma ISO RGD:731746 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011|PMID:26822237 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: tricuspid valve insufficiency PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:4362 cervical cancer ISO RGD:731746 D RGD:39128248|PMID:18543080 20200929 RGD protein:increased expression:foreskin 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:4624 Ollier disease ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20577567|PMID:21533187 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:540 strabismus ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:15985475|PMID:17020470|PMID:17546245|PMID:18470943|PMID:19077116|PMID:20186801|PMID:21590266|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:11992261|PMID:12161469|PMID:15240615|PMID:16032767|PMID:16358218|PMID:16566035|PMID:17020470|PMID:18470943|PMID:18678287|PMID:19020799|PMID:21106241|PMID:21597774|PMID:21784453|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24803665|PMID:25741868|PMID:27030275|PMID:28492532|PMID:30266093 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:5688 Werner syndrome ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:630 genetic disease ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14644997|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15929108|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16498234|PMID:16638574|PMID:16672235|PMID:16924159|PMID:16990350|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17361219|PMID:17515436|PMID:17546245|PMID:17661820|PMID:17875892|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19077116|PMID:19120036|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19352411|PMID:19509418|PMID:19737548|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20112233|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21784453|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22465605|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:23297836|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25326637|PMID:25395418|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26337637|PMID:26372199|PMID:26467025|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27069254|PMID:27117572|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29696744|PMID:29848529|PMID:29907801|PMID:30025578|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30602027|PMID:30604644|PMID:30784236|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32233106|PMID:32581362|PMID:32719394|PMID:32824488|PMID:32860008|PMID:33091040|PMID:34006472|PMID:34008892|PMID:4746100|PMID:9491886 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:731746 D RGD:12743641|PMID:22503907 20170209 RGD DNA:snp:intron:c.757-4333A>G (rs11066320) (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:6536 plasma cell neoplasm ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:769 neuroblastoma ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:769 neuroblastoma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17972951|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:27783593|PMID:28098151|PMID:28492532|PMID:30868567 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:8469 influenza ISO RGD:731747 D RGD:39131288|PMID:31782850 20200930 RGD mRNA:increased expression:lung 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:8927 learning disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:8929 atrophic gastritis severity ISO RGD:731746 D RGD:39128247|PMID:19589142 20200929 RGD associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:39128202|PMID:17211494 20200925 RGD associated with Helicobacter Infections; DNA:SNP:Cds: 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:39131286|PMID:18712962 20200930 RGD DNA:SNP:intron:rs2301756 (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:39131289|PMID:22788847 20200930 RGD associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9000109 Haemophilus Infections ISO RGD:731747 D RGD:39131287|PMID:27330052 20200930 RGD mRNA, protein:increased expression:macrophage, lung: 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:731747 D RGD:39131288|PMID:31782850 20200930 RGD mRNA:increased expression:lung 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia severity ISO RGD:731747 D RGD:39131288|PMID:31782850 20200930 RGD associated with influenza 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9001276 Failure to Thrive ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9001510 Funnel Chest ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731746 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:12743586|PMID:19491300 20170208 RGD with postnatal growth restriction 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20651068|PMID:21365683|PMID:22371576|PMID:22420426|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30325180|PMID:31134136 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:15121796|PMID:15389709|PMID:15520399|PMID:16053901|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24401936|PMID:24775816|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:28483241|PMID:28492532|PMID:29276006|PMID:30311386 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9003091 Noonan Like Syndrome ISO RGD:731746 D RGD:11064737|PMID:15996221 20170209 RGD DNA:missense mutations:cds:p.D106A, p.F285L (human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9003571 Paraproteinemias ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11704759|PMID:11992261|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16377799|PMID:18372317|PMID:18470943|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21407260|PMID:21784453|PMID:22465605|PMID:22488759|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24754368|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26918529|PMID:28492532|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:34008892|PMID:9491886 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9004441 Experimental Leukemia ISO RGD:731746 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731746 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9005193 Osteochondroma ISO RGD:731746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20577567 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right ventricular hypertrophy PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:39456082|PMID:12117720 20201001 RGD protein:increased expression:aorta tunica intima, aorta tunica media 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23334666|PMID:25741868|PMID:26223499|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24628801|PMID:24803665|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26785492|PMID:26817465|PMID:27117572|PMID:27521173|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:29493581|PMID:30604644|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9007502 Brain Neoplasms ISO RGD:731746 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9007661 Dwarfism ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17546245|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20186801|PMID:20651068|PMID:21365683|PMID:21590266|PMID:22371576|PMID:22420426|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23624134|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:29493581|PMID:30325180|PMID:31134136 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9008086 Developmental Disabilities ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:731746 D RGD:39128247|PMID:19589142 20200929 RGD DNA:SNP:intron: rs2301756(human) 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16032767|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16566035|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:18678287|PMID:19008228|PMID:19020799|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19835954|PMID:20651068|PMID:21106241|PMID:21365683|PMID:21597774|PMID:21784453|PMID:22371576|PMID:22420426|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24628801|PMID:24718990|PMID:24803665|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27030275|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30266093 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9119 acute myeloid leukemia ISO RGD:731746 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9119 acute myeloid leukemia ISO RGD:731746 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9538 multiple myeloma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:26619011|PMID:26822237|PMID:27783593|PMID:28098151|PMID:28492532 3447 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:962 neurofibroma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:17052965|PMID:21548061|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:26556299|PMID:28492532 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736589 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:1059 intellectual disability ISO RGD:736589 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736589 D RGD:9835008|PMID:20427654 20150312 RGD protein:increased expression:prefrontal cortex (human) 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736590 D RGD:10044037|PMID:16237174 20150602 RGD protein:increased expression:dentate gyrus (mouse) 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:10652 Alzheimer's disease severity ISO RGD:736590 D RGD:9835007|PMID:20956308 20150312 RGD 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:224 transient cerebral ischemia IEP D RGD:9835010|PMID:24198371 20150312 RGD protein:decreased phosphorylation, decreased expression:striatum (rat) 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:224 transient cerebral ischemia severity ISO RGD:736590 D RGD:9835010|PMID:24198371 20150312 RGD 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:9835010|PMID:24198371 20150312 RGD 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:630 genetic disease ISO RGD:736589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:9002955 Nerve Degeneration ISO RGD:736589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17360923 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9835021|PMID:10537057 20150313 RGD STEP33;protein:increased expression:forebrain (rat) 3448 Ptpn5 protein tyrosine phosphatase, non-receptor type 5 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:9835027|PMID:15555919 20150316 RGD protein:increased expression:retina (rat) 3449 Sirpa signal-regulatory protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:736759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 3449 Sirpa signal-regulatory protein alpha gene DOID:630 genetic disease ISO RGD:736759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3450 Ptpra protein tyrosine phosphatase, receptor type, A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:736543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 3450 Ptpra protein tyrosine phosphatase, receptor type, A gene DOID:3717 gastric adenocarcinoma ISO RGD:736543 D RGD:151660348|PMID:16338072 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) 3450 Ptpra protein tyrosine phosphatase, receptor type, A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:736543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 3450 Ptpra protein tyrosine phosphatase, receptor type, A gene DOID:630 genetic disease ISO RGD:736543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3450 Ptpra protein tyrosine phosphatase, receptor type, A gene DOID:9007102 Myocardial Ischemia ISO RGD:736543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3450 Ptpra protein tyrosine phosphatase, receptor type, A gene DOID:9008352 Dystonia 30 ISO RGD:736543 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 PMID:25741868 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:736371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:28492532|PMID:7621884 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:1540 parathyroid carcinoma ISO RGD:736371 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:2377 multiple sclerosis ISO RGD:736371 D RGD:1358566|PMID:11101853 19990101 RGD DNA:snp:exon:c.77C>G (human) 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:5679 retinal disease ISO RGD:736371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:627 severe combined immunodeficiency ISO RGD:736371 D RGD:1599983|PMID:11145714 20070222 RGD DNA:deletion 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:627 severe combined immunodeficiency ISO RGD:736371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:630 genetic disease ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:7148 rheumatoid arthritis ISO RGD:736371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9000795 Immunodeficiency 104 ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10700239|PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16199547|PMID:16505159|PMID:17576681|PMID:19111528|PMID:21507955|PMID:25741868|PMID:26915675|PMID:28492532|PMID:31848144|PMID:7621884|PMID:9536098 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736371 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9002304 Prostatic Neoplasms ISO RGD:736371 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9002514 Neointima treatment IEP D RGD:729766|PMID:12377736 20150324 RGD associated with Diabetes Mellitus, Type 2 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:7240710 20220720 OMIM 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 105 PMID:10700239|PMID:11101853|PMID:11145714|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:22689986|PMID:25741868|PMID:26915675|PMID:28492532|PMID:7621884|PMID:9068311 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:736371 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9074 systemic lupus erythematosus ISS RGD:11196 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 3451 Ptprc protein tyrosine phosphatase, receptor type, C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736371 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3452 Ptprs protein tyrosine phosphatase, receptor type, S gene DOID:0080600 COVID-19 ISO RGD:734357 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3452 Ptprs protein tyrosine phosphatase, receptor type, S gene DOID:630 genetic disease ISO RGD:734357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3452 Ptprs protein tyrosine phosphatase, receptor type, S gene DOID:9004538 Hearing Loss ISO RGD:734357 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 3452 Ptprs protein tyrosine phosphatase, receptor type, S gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:734357 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734202 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:1790 malignant mesothelioma ISO RGD:734202 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:2018 hyperinsulinism ISO RGD:734202 D RGD:1642735|PMID:11309481 20071011 RGD mouse model overexpressing human transgene 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:6000 congestive heart failure ISO RGD:734202 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:630 genetic disease ISO RGD:734202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9000217 Stomach Neoplasms ISO RGD:734202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9000918 Disease Progression ISO RGD:734202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:7240710 20170301 OMIM 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734202 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:1642733|PMID:9218523 20071010 RGD 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:1642735|PMID:11309481 20071011 RGD mouse model overexpressing human transgene 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9970 obesity IEP D RGD:1642732|PMID:7666792 20071010 RGD protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05) 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9970 obesity ISO RGD:734202 D RGD:1642727|PMID:7769120 20071010 RGD 3453 Ptprf protein tyrosine phosphatase, receptor type, F gene DOID:9970 obesity ISO RGD:734202 D RGD:1642733|PMID:9218523 20071010 RGD 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:1059 intellectual disability ISO RGD:736433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:10763 hypertension IAGP D RGD:1357414|PMID:15710778 19990101 RGD 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:1520 colon carcinoma ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12089527|PMID:25741868|PMID:33116287 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736433 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:736433 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:630 genetic disease ISO RGD:736433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:9008443 Colorectal Neoplasms ISO RGD:736433 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:7240710 20200226 OMIM 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:12089527|PMID:25741868|PMID:33116287 3454 Ptprj protein tyrosine phosphatase, receptor type, J gene DOID:9256 colorectal cancer susceptibility ISO RGD:736433 D RGD:152176665|PMID:19672627 20220510 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:10316 pneumoconiosis ISO RGD:731607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:11832 visual epilepsy IEP D RGD:9589824|PMID:14637091 20141111 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:1824 status epilepticus IEP D RGD:9589822|PMID:10582521 20141111 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:332 amyotrophic lateral sclerosis treatment IEP D RGD:9590123|PMID:25113670 20141113 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:9589829|PMID:11292447 20141111 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:9590118|PMID:15869933 20141112 RGD mRNA:increased expression:cerebral cortex 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:3717 gastric adenocarcinoma ISO RGD:731607 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731607 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:630 genetic disease ISO RGD:731607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9590113|PMID:12895450 20141112 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:9589823|PMID:15016081 20141111 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:9590124|PMID:18065151 20141113 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9000998 Brain Injuries IEP D RGD:727637|PMID:12088737 20141111 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9002189 High Myopia ISO RGD:731607 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9002598 Spastic Paraparesis ISO RGD:731607 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9590116|PMID:16041802 20141112 RGD 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9003740 Nerve Injuries IEP D RGD:9589118|PMID:9748513 20141107 RGD mRNA:increased expression:sciatic nerve 3455 Ptprz1 protein tyrosine phosphatase, receptor type Z1 gene DOID:9008114 Helicobacter Infections ISO RGD:731607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17030583 3457 Pvalb parvalbumin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3457 Pvalb parvalbumin gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3457 Pvalb parvalbumin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3457 Pvalb parvalbumin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3457 Pvalb parvalbumin gene DOID:2468 psychotic disorder ISO RGD:735961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3457 Pvalb parvalbumin gene DOID:3312 bipolar disorder ISO RGD:735961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3457 Pvalb parvalbumin gene DOID:4450 renal cell carcinoma ISO RGD:735961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 3457 Pvalb parvalbumin gene DOID:5389 oxyphilic adenoma ISO RGD:735961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 3457 Pvalb parvalbumin gene DOID:5419 schizophrenia ISO RGD:735961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3457 Pvalb parvalbumin gene DOID:630 genetic disease ISO RGD:735961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3460 Pygb glycogen phosphorylase B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 3460 Pygb glycogen phosphorylase B gene DOID:630 genetic disease ISO RGD:736182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3460 Pygb glycogen phosphorylase B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 3460 Pygb glycogen phosphorylase B gene DOID:9007102 Myocardial Ischemia ISO RGD:736182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3460 Pygb glycogen phosphorylase B gene DOID:9007661 Dwarfism ISO RGD:736182 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:0080000 muscular disease ISO RGD:737329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18380285 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:737329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:1059 intellectual disability ISO RGD:737329 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:13580 cholestasis IDA D RGD:1599990|PMID:11804660 20070222 RGD mRNA:decreased expression:liver 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12666117|PMID:18380285 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:1599985|PMID:9633816 20070222 RGD DNA:deletion:exon 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:7240710 20130221 OMIM 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V | ClinVar Annotator: match by term: McArdle disease, mild | ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:10417800|PMID:10450796|PMID:10590419|PMID:1067063|PMID:10679948|PMID:10681080|PMID:10714589|PMID:11168025|PMID:11706962|PMID:11749054|PMID:12031624|PMID:12118255|PMID:12398832|PMID:12508303|PMID:12929201|PMID:14568816|PMID:14638972|PMID:14722619|PMID:14748827|PMID:15979037|PMID:16154688|PMID:16199547|PMID:16786513|PMID:16793208|PMID:16924035|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17560787|PMID:17576681|PMID:17630210|PMID:17705025|PMID:17876739|PMID:17915571|PMID:17994553|PMID:18067156|PMID:18162322|PMID:18641458|PMID:19232494|PMID:19251976|PMID:19433441|PMID:19472443|PMID:19670320|PMID:20301518|PMID:20683610|PMID:20957198|PMID:21520335|PMID:21658951|PMID:21802952|PMID:21880526|PMID:22250184|PMID:22608882|PMID:22730558|PMID:22818872|PMID:22832773|PMID:22899091|PMID:23653251|PMID:2391551|PMID:24033266|PMID:24503134|PMID:25044680|PMID:25045239|PMID:25240406|PMID:25525159|PMID:25640679|PMID:25740218|PMID:25741863|PMID:25741868|PMID:25873271|PMID:25914343|PMID:25987006|PMID:26032558|PMID:26115788|PMID:26436962|PMID:26633542|PMID:26913921|PMID:26944031|PMID:27032803|PMID:2703328|PMID:28492532|PMID:28967462|PMID:29143597|PMID:29382405|PMID:30316539|PMID:30415384|PMID:31319225|PMID:31589614|PMID:32075227|PMID:32386344|PMID:32735634|PMID:34008892|PMID:34215481|PMID:34373715|PMID:34426522|PMID:34534370|PMID:3476861|PMID:34906502|PMID:7951211|PMID:7951262|PMID:8279469|PMID:8316268|PMID:8401511|PMID:8535454|PMID:9120482|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9536098|PMID:9633816|PMID:9674815 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:3070 high grade glioma ISO RGD:737329 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:423 myopathy ISO RGD:737329 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:630 genetic disease ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10450796|PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16199547|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:2703328|PMID:28492532|PMID:29143597|PMID:30415384|PMID:32386344|PMID:3476861|PMID:8279469|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9674815 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:767 muscular atrophy ISO RGD:737329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:28492532|PMID:29143597|PMID:32386344|PMID:3476861|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9506549|PMID:9674815 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:9002189 High Myopia ISO RGD:737329 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868|PMID:28492532 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:9003936 Cardiomegaly IEP D RGD:1599987|PMID:14618266 20070222 RGD mRNA:increased expression:cardiocyte 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:9005246 Paralysis IEP D RGD:1599993|PMID:8769807 20070222 RGD mRNA, protein:decreased expression:skeletal muscle 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1599897|PMID:11692172 20070222 RGD protein:increased expression:sarcoplasmic reticulum 3461 Pygm glycogen phosphorylase, muscle associated gene DOID:9007102 Myocardial Ischemia IDA D RGD:1599991|PMID:10498852 20070222 RGD 3467 RT1-B RT1 class II, locus B gene DOID:0080820 occupational asthma susceptibility ISO RGD:1347386 D RGD:13506912|PMID:24709764 20180222 RGD DNA:SNP: : rs928976(human) 3467 RT1-B RT1 class II, locus B gene DOID:2841 asthma susceptibility ISO RGD:1347386 D RGD:13506911|PMID:21814517 20180222 RGD DNA:polymorphisms: : 3467 RT1-B RT1 class II, locus B gene DOID:9415 allergic asthma susceptibility ISO RGD:1347386 D RGD:13506910|PMID:28380482 20180223 RGD DNA:polymorphism: 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0040091 autoimmune pancreatitis severity ISO RGD:1353906 D RGD:5147621|PMID:18155707 20110816 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050012 chikungunya susceptibility ISO RGD:1353906 D RGD:36049872|PMID:23710940 20200722 RGD DNA:polymorphism:cds: HLA-DQB1*03:03 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050168 autoimmune polyendocrine syndrome type 2 susceptibility ISO RGD:1353906 D RGD:5147565|PMID:21388354 20110811 RGD DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050185 erythema multiforme ISO RGD:1353906 D RGD:5147868|PMID:9627123 20110825 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050426 Stevens-Johnson syndrome susceptibility ISO RGD:1353906 D RGD:7483570|PMID:8841298 20131202 RGD DNA:polymorphism:cds:HLA-DQB1*0601 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050553 JMP syndrome ISO RGD:1353906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050748 marginal zone lymphoma ISO RGD:1353906 D RGD:5147794|PMID:16234023 20110819 RGD associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1353906 D RGD:5147610|PMID:19616314 20181011 RGD DNA:polymorphism: :HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050827 rheumatic heart disease ISO RGD:1353906 D RGD:5147630|PMID:17578051 20110816 RGD DNA:polymorphisms:cds:HLA-DQB1*08 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0050840 cervical dystonia ISO RGD:1353906 D RGD:5147570|PMID:20843162 20110811 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1353906 D RGD:11041755|PMID:22291608 20160328 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1353906 D RGD:11041756|PMID:10931389 20160328 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1353906|RGD:1351810 D RGD:11041765|PMID:12070003 20160328 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0060532 latex allergy ISO RGD:1353906 D RGD:5147656|PMID:15536412 20110817 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0060643 primary sclerosing cholangitis disease_progression ISO RGD:1353906 D RGD:14865010|PMID:30487703 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0060851 pemphigus vulgaris ISO RGD:1353906 D RGD:14747041|PMID:28197992 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0080600 COVID-19 ISO RGD:1353906 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:1353906 D RGD:11074090|PMID:25975240 20180222 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1353906 D RGD:5147650|PMID:15996167 20110816 RGD DNA:polymorphisms:cds:HLA-DQB1*0303 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:1353906 D RGD:5147858|PMID:10432437 20110825 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1019 osteomyelitis susceptibility ISO RGD:1353906 D RGD:11041747|PMID:18312480 20160328 RGD associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10316 pneumoconiosis susceptibility ISO RGD:1353906 D RGD:7421557|PMID:16188098 20131121 RGD DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10325 silicosis ISO RGD:1353906 D RGD:36049758|PMID:11776400 20200717 RGD DNA:polymorphism: :HLA-DQB1*0402(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:104 bacterial infectious disease onset ISO RGD:1353906 D RGD:5147635|PMID:16987934 20110816 RGD associated with Cystic Fibrosis;DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1353906 D RGD:36174024|PMID:10960630 20200727 RGD DNA:polymorphism:cds:HLA-DQB1*04 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:14865008|PMID:28247576 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:14928328|PMID:30013750 20190916 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:14974234|PMID:29793442 20190920 RGD DNA:polymorphisms 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:5147789|PMID:19494267 20110819 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:5147791|PMID:18509540 20110819 RGD DNA:polymorphisms, haplotypes:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:5147808|PMID:11713456 20110822 RGD associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease ISO RGD:1353906 D RGD:5147854|PMID:11426458 20110825 RGD associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease susceptibility ISO RGD:1353906 D RGD:5147625|PMID:17919990 20110816 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10608 celiac disease susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1353906 D RGD:11041754|PMID:19922436 20160328 RGD DNA:polymorphisms:cds:HLA-DQB1*0301 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:10923 sickle cell anemia ISO RGD:1353906 D RGD:11041761|PMID:19254255 20160328 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11165 common wart susceptibility ISO RGD:1353906 D RGD:36049812|PMID:15257408 20200721 RGD DNA:polymorphism: :HLA-DQB1*0301 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353906 D RGD:36174017|PMID:9659531 20200724 RGD DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11336 rhinoscleroma susceptibility ISO RGD:1353906 D RGD:8547664|PMID:17321882 20140219 RGD DNA:haplotype: : 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11339 pneumocystosis IEP D RGD:4144112|PMID:20377877 20101005 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1353906 D RGD:7365096|PMID:9683867 20131121 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11656 cicatricial pemphigoid susceptibility ISO RGD:1353906 D RGD:7483589|PMID:9008223 20131203 RGD DNA:polymorphism:cds:HLA-DQB1*0301 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11829 degenerative myopia ISO RGD:1353906 D RGD:7483572|PMID:10887689 20131202 RGD DNA:polymorphisms:cds:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11829 degenerative myopia susceptibility ISO RGD:1353906 D RGD:7421542|PMID:11864433 20131121 RGD DNA:polymorphisms:cds:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:11949 Creutzfeldt-Jakob disease susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8725357 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:5147814|PMID:10689122 20110822 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:5147826|PMID:16112029 20110822 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1205 allergic disease ISO RGD:1353906 D RGD:5147866|PMID:10202362 20110825 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1205 allergic disease susceptibility ISO RGD:1353906 D RGD:5147606|PMID:20684489 20110815 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1205 allergic disease susceptibility ISO RGD:1353906 D RGD:5147651|PMID:15853900 20110816 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1210 optic neuritis susceptibility ISO RGD:1353906 D RGD:7483596|PMID:9006417 20131203 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12148 alveolar echinococcosis disease_progression ISO RGD:1353906 D RGD:36174003|PMID:9756400 20200723 RGD DNA:polymorphism: :HLA-DQB1*02(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12177 common variable immunodeficiency ISO RGD:1353906 D RGD:5147864|PMID:10361244 20110825 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12241 beta thalassemia ISO RGD:1353906 D RGD:11041746|PMID:12513847 20160328 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1353906 D RGD:7421525|PMID:17605936 20131120 RGD DNA:polymorphisms:cds:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12297 Vogt-Koyanagi-Harada disease susceptibility ISO RGD:1353906 D RGD:7421581|PMID:19176112 20131121 RGD DNA:snps:promoter:g.-227G>A, g.-189C>A (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12306 vitiligo ISO RGD:1353906 D RGD:5147644|PMID:16420246 20110816 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12306 vitiligo susceptibility ISO RGD:1353906 D RGD:36174006|PMID:9653015 20200723 RGD DNA:polymorphism:HLA-DQB1*0201(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12361 Graves' disease susceptibility ISO RGD:1353906 D RGD:7421572|PMID:10468909 20131121 RGD DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12361 Graves' disease susceptibility ISO RGD:1353906 D RGD:7483568|PMID:11272094 20131202 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12449 aplastic anemia ISO RGD:1353906|RGD:1351810 D RGD:11041765|PMID:12070003 20160328 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12449 aplastic anemia severity ISO RGD:1353906 D RGD:11041757|PMID:24979673 20160328 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12449 aplastic anemia treatment ISO RGD:1353906|RGD:1351810 D RGD:11041775|PMID:7994040 20160329 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1245 vulva cancer susceptibility ISO RGD:1353906 D RGD:2314696|PMID:12543794 20200723 RGD associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12859 choreatic disease ISO RGD:1353906 D RGD:5147792|PMID:17559688 20110819 RGD associated with Rheumatic Fever;DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12894 Sjogren's syndrome ISO RGD:1353906 D RGD:7483566|PMID:8468491 20131202 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1353906 D RGD:36174022|PMID:17489060 20200727 RGD associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1353906 D RGD:7421543|PMID:21315052 20110816 RGD DNA:polymorphisms:cds:HLA-DQB1*0201 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12930 dilated cardiomyopathy ISO RGD:1353906 D RGD:13702906|PMID:9220309 20180724 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:12987 agranulocytosis ISO RGD:1353906 D RGD:11041752|PMID:20868635 20160328 RGD DNA:SNP: :6672G>C (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:13141 uveitis IMP D RGD:5147639|PMID:16723470 20110816 RGD associated with Encephalomyelitis, Autoimmune, Experimental 3469 RT1-Bb RT1 class II, locus Bb gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1353906 D RGD:36049760|PMID:23278646 20200717 RGD associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353906 D RGD:7483565|PMID:23396137 20131202 RGD DNA:polymorphisms:cds:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:13258 typhoid fever susceptibility ISO RGD:1353906 D RGD:36049756|PMID:11120931 20200716 RGD DNA:polymorphisms:: 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1340 pure red-cell aplasia susceptibility ISO RGD:1353906 D RGD:11041748|PMID:18689790 20160328 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:13774 Addison's disease ISO RGD:1353906 D RGD:5147608|PMID:20455895 20110815 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:13774 Addison's disease ISO RGD:1353906 D RGD:5147829|PMID:12072047 20110822 RGD DNA:repeat (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1353906 D RGD:5147646|PMID:16254435 20110816 RGD DNA:polymorphisms:cds:HLA-DQB1*0401 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:1353906 D RGD:11041780|PMID:11076705 20160329 RGD DNA:polymorphism:cds:HLA-DQB1*0501 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1459 hypothyroidism susceptibility ISO RGD:1353906 D RGD:5147628|PMID:17588142 20110816 RGD DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1495 cystic echinococcosis ISO RGD:1353906 D RGD:36174019|PMID:22308705 20200724 RGD DNA:polymorphisms: :HLA- DQB1*0.9, DQB1*02(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1555 urticaria ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1558 angioedema ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1586 rheumatic fever ISO RGD:1353906 D RGD:5147792|PMID:17559688 20110819 RGD DNA:polymorphisms, haplotypes:multiple 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1686 glaucoma susceptibility ISO RGD:1353906 D RGD:7365116|PMID:10511023 20131022 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1883 hepatitis C ISO RGD:1353906 D RGD:11041750|PMID:22155912 20160328 RGD associated with Beta-Thalassemia 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1883 hepatitis C disease_progression ISO RGD:1353906 D RGD:14928326|PMID:27340680 20190916 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1883 hepatitis C disease_progression ISO RGD:1353906 D RGD:14928327|PMID:27599887 20190916 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:1883 hepatitis C susceptibility ISO RGD:1353906 D RGD:9068941 20201225 RGD DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human) PMID:21535077|REF_RGD_ID:40902997 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2043 hepatitis B ISO RGD:1353906 D RGD:14865006|PMID:29979894 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2043 hepatitis B treatment ISO RGD:1353906 D RGD:14865007|PMID:29042702 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2048 autoimmune hepatitis ISO RGD:1353906 D RGD:5147584|PMID:20007077 20110812 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2048 autoimmune hepatitis ISO RGD:1353906 D RGD:5147634|PMID:17050030 20110816 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:216 dental caries ISO RGD:1353906 D RGD:14928324|PMID:29594988 20190916 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1353906 D RGD:5147555|PMID:21741664 20110811 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1353906 D RGD:5147658|PMID:20463743 20110817 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1353906 D RGD:7240710 20230517 OMIM 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1353906 D RGD:7421588|PMID:21908482 20131121 RGD DNA:polymorphism:cds:HLA-DQB1*06 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10792356 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma ISO RGD:1353906 D RGD:4144113|PMID:20298583 20101005 RGD Alternaria sensitive asthma 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma ISO RGD:1353906 D RGD:5147617|PMID:19052351 20110815 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma ISO RGD:1353906 D RGD:5147799|PMID:12890388 20110819 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma ISO RGD:1353906 D RGD:5147831|PMID:11802952 20110822 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma disease_progression ISO RGD:1353906 D RGD:4144181|PMID:20214848 20180222 RGD DNA:polymorphisms: : 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma no_association ISO RGD:1353906 D RGD:13506906|PMID:23331206 20180222 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2841 asthma susceptibility ISO RGD:1353906 D RGD:13506913|PMID:20159242 20180223 RGD DNA:polymorphisms: : 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2957 pulmonary tuberculosis ISO RGD:1353906 D RGD:36049765|PMID:28612994 20200717 RGD DNA:polymorphism: :HLA-DQB1*3:03(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1353906 D RGD:5147614|PMID:19230186 20110815 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353906 D RGD:36049753|PMID:24024195 20200716 RGD DNA:polymorphism:cds:HLA-DQB1*0201(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2986 IgA glomerulonephritis ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1353906 D RGD:36174018|PMID:7638860 20200724 RGD DNA:polymorphism: :HLA-DQB1*0301(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:2988 antiphospholipid syndrome ISO RGD:1353906 D RGD:5147862|PMID:11157139 20110825 RGD DNA:polymorphisms: :multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:1353906 D RGD:36174012|PMID:25729550 20200723 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:399 tuberculosis susceptibility ISO RGD:1353906 D RGD:36049809|PMID:19030725 20200721 RGD associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 3469 RT1-Bb RT1 class II, locus Bb gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1353906 D RGD:5147828|PMID:14522182 20110822 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:417 autoimmune disease ISO RGD:1353906 D RGD:11041759|PMID:19210322 20160328 RGD associated with Neutropenia 3469 RT1-Bb RT1 class II, locus Bb gene DOID:417 autoimmune disease ISO RGD:1353906 D RGD:5147554|PMID:21744463 20110811 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:418 systemic scleroderma ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 3469 RT1-Bb RT1 class II, locus Bb gene DOID:4362 cervical cancer susceptibility ISO RGD:1353906 D RGD:36174015|PMID:25893807 20200724 RGD associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:4362 cervical cancer susceptibility ISO RGD:1353906 D RGD:36174023|PMID:16425277 20200727 RGD DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:437 myasthenia gravis ISO RGD:1353906 D RGD:5147855|PMID:10593018 20110825 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:437 myasthenia gravis susceptibility ISO RGD:1353906 D RGD:5147612|PMID:19561379 20110815 RGD DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:4483 rhinitis susceptibility ISO RGD:1353906 D RGD:5147798|PMID:14990915 20110819 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1353906 D RGD:36049755|PMID:11336748 20200716 RGD associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DQB1*0303, HLA-DQB1*0601, HLA-DQB1*0609(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353906 D RGD:5147659|PMID:20345872 20110817 RGD DNA:polymorphisms: :multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353906 D RGD:5147817|PMID:18427198 20110822 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:633 myositis ISO RGD:1353906 D RGD:5147629|PMID:17586554 20110816 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*02 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1353906 D RGD:36049763|PMID:22786832 20200717 RGD DNA:polymorphism, haplotype: : 3469 RT1-Bb RT1 class II, locus Bb gene DOID:639 acute disseminated encephalomyelitis susceptibility ISO RGD:1353906 D RGD:5147662|PMID:19722042 20110817 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1353906 D RGD:5147863|PMID:10457895 20110825 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:684 hepatocellular carcinoma ISO RGD:1353906 D RGD:14974233|PMID:28921602 20190920 RGD associated with hepatitis C;DNA:SNPs,haplotypes 3469 RT1-Bb RT1 class II, locus Bb gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353906 D RGD:14928325|PMID:27288300 20190916 RGD associated with hepatitis B 3469 RT1-Bb RT1 class II, locus Bb gene DOID:7147 ankylosing spondylitis severity ISO RGD:1353906 D RGD:5147611|PMID:19565552 20110815 RGD DNA:polymorphism:cds:HLA-DQB1*0603 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:7148 rheumatoid arthritis ISO RGD:1353906 D RGD:5147860|PMID:11454644 20110825 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:7188 autoimmune thyroiditis ISO RGD:1353906 D RGD:5147571|PMID:20825955 20110811 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:76 stomach disease susceptibility ISO RGD:1353906 D RGD:5147609|PMID:20405713 20110815 RGD associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DQB1*03 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:7998 hyperthyroidism susceptibility ISO RGD:1353906 D RGD:7421571|PMID:17194971 20131121 RGD DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:820 myocarditis ISO RGD:1353906 D RGD:5147615|PMID:19127454 20110815 RGD DNA:polymorphism:cds:HLA-DQB1*0303 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:848 arthritis ISO RGD:1353906 D RGD:5147787|PMID:20472930 20110819 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8552 chronic myeloid leukemia ISO RGD:1353906|RGD:1351810 D RGD:11041777|PMID:17893434 20160329 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8577 ulcerative colitis ISO RGD:1353906 D RGD:14865009|PMID:31038770 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8691 mycosis fungoides susceptibility ISO RGD:1353906 D RGD:7483574|PMID:15761416 20131202 RGD DNA:polymorphism:cds:HLA-DQB1*03 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8778 Crohn's disease ISO RGD:1353906 D RGD:14974239|PMID:29358886 20190920 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1353906 D RGD:11530523|PMID:27049564 20200722 RGD DNA:polymorphism:: HLA-DQB1*02:02 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8869 neuromyelitis optica susceptibility ISO RGD:1353906 D RGD:7421588|PMID:21908482 20131121 RGD DNA:polymorphism:cds:HLA-DQB1*0402 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8893 psoriasis susceptibility ISO RGD:1353906 D RGD:5147797|PMID:15009387 20110819 RGD DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0303 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1353906 D RGD:11041758|PMID:10435723 20160328 RGD DNA:polymorphisms:cds:HLA-DQB1*0401 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8929 atrophic gastritis ISO RGD:1353906 D RGD:5147582|PMID:20082482 20110812 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8929 atrophic gastritis susceptibility ISO RGD:1353906 D RGD:36174021|PMID:10616761 20200724 RGD associated with Helicobacter Infections; DNA:polymorphism: :HLA- DQB1*0401(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8947 diabetic retinopathy severity ISO RGD:1353906 D RGD:7483573|PMID:8932997 20131202 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1353906 D RGD:7421552|PMID:19551681 20131121 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8986 narcolepsy ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711174 3469 RT1-Bb RT1 class II, locus Bb gene DOID:8986 narcolepsy susceptibility ISO RGD:1353906 D RGD:5147861|PMID:11179016 20110825 RGD DNA:polymorphisms:cds:multiple 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9000877 Rhinosinusitis, Allergic Fungal ISO RGD:1353906 D RGD:5147654|PMID:15577839 20110817 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1353906 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9001365 Amebic Liver Abscess susceptibility ISO RGD:1353906 D RGD:36049810|PMID:25938667 20200721 RGD DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9001472 Nasal Polyps ISO RGD:1353906 D RGD:5147813|PMID:10718431 20110822 RGD associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1353906 D RGD:8547658|PMID:16890076 20140219 RGD DNA:haplotype: : HLA-DQB1*0201; 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002272 Small Fiber Neuropathy ISO RGD:1353906 D RGD:5147648|PMID:16053028 20110816 RGD associated with sarcoidosis;DNA:polymorphisms:cds:HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002605 Delayed Hypersensitivity IDA D RGD:5147666|PMID:9834080 20110817 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002695 Cataplexy ISO RGD:1353906 D RGD:5147632|PMID:17297265 20110816 RGD associated with Narcolepsy;DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:5147666|PMID:9834080 20110817 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5147639|PMID:16723470 20110816 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1353906 D RGD:5147647|PMID:16194572 20110816 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1353906 D RGD:36174013|PMID:19861144 20200724 RGD DNA:polymorphism: :HLA-DQB1*0602(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:1353906 D RGD:5147657|PMID:15336778 20110817 RGD DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353906 D RGD:36174022|PMID:17489060 20200727 RGD DNA:polymorphism:cds:HLA-DQB1*02 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9004096 Veno-Occlusive Disease ISO RGD:1353906 D RGD:11041760|PMID:18272668 20160328 RGD associated with Anemia, Sickle Cell 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9004283 Transplant Rejection IDA D RGD:7421554|PMID:1547813 20131121 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9004486 Drug-induced Neutropenia ISO RGD:1353906 D RGD:14928329|PMID:27400856 20190916 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9004576 Sleep Initiation and Maintenance Disorders severity ISO RGD:1353906 D RGD:5147604|PMID:21292329 20110815 RGD DNA:polymorphism:cds:HLA-DQB1*0602 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9004735 Idiopathic Hypersomnolence ISO RGD:1353906 D RGD:5147660|PMID:19927159 20110817 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9005236 Drug Eruptions ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9006096 Uterine Cervical Dysplasia susceptibility ISO RGD:1353906 D RGD:36049759|PMID:16803516 20200717 RGD DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:1353906 D RGD:5147802|PMID:12556395 20110819 RGD DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007096 Stroke susceptibility ISO RGD:1353906 D RGD:5147804|PMID:12373032 20110819 RGD DNA:polymorphism:cds:HLA-DQB1*0402 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1353906 D RGD:5147613|PMID:19254248 20110815 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1353906 D RGD:7483569|PMID:8157715 20131202 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570397 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353906 D RGD:11573514|PMID:26959717 20190912 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1353906 D RGD:36174016|PMID:25250564 20200724 RGD DNA:polymorphism: :HLA-DQB1*05(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9007996 End Stage Liver Disease susceptibility ISO RGD:1353906 D RGD:36174014|PMID:11302974 20200724 RGD associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1353906 D RGD:7421561|PMID:22032123 20131121 RGD DNA:polymorphism:cds:HLA-DQB1*05 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1353906 D RGD:7421576|PMID:9641569 20131121 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008114 Helicobacter Infections ISO RGD:1353906 D RGD:5147649|PMID:16011982 20110816 RGD associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1353906 D RGD:36049761|PMID:15833172 20200717 RGD DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353906 D RGD:14865012|PMID:29287219 20190912 RGD DNA:polymorphisms: :multiple 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353906 D RGD:5147637|PMID:16893387 20110816 RGD DNA:polymorphisms (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1353906 D RGD:14974232|PMID:28267888 20190920 RGD DNA:SNP: :rs2856718 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353906 D RGD:36049762|PMID:16237774 20200717 RGD DNA:polymorphism: :HLA-DQB1*07(human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9074 systemic lupus erythematosus ISO RGD:1353906 D RGD:5147560|PMID:21658414 20110811 RGD DNA:polymorphisms: :multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9074 systemic lupus erythematosus ISO RGD:1353906 D RGD:5147620|PMID:18552411 20110816 RGD DNA:polymorphisms: :multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353906 D RGD:9068941 20201225 RGD DNA:polymorphisms:cds:HLA-DQB1*0201 (human) PMID:12651073|REF_RGD_ID:40902999 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9119 acute myeloid leukemia ISO RGD:1353906 D RGD:11041763|PMID:20051322 20160328 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9119 acute myeloid leukemia ISO RGD:1353906 D RGD:11041776|PMID:17237562 20160329 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9164 achalasia ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997987 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9164 achalasia ISO RGD:1353906 D RGD:14865011|PMID:30092016 20190912 RGD DNA:polymorphism, haplotype 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9164 achalasia ISO RGD:1353906 D RGD:14974238|PMID:30788115 20190920 RGD DNA:SNP::rs28688207 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9164 achalasia ISO RGD:1353906 D RGD:5147806|PMID:11837716 20110822 RGD DNA:polymorphism (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9182 pemphigus ISO RGD:1353906 D RGD:5147619|PMID:18780165 20110816 RGD DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9256 colorectal cancer ISO RGD:1353906 D RGD:14974237|PMID:31001878 20190920 RGD DNA:CNVs 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9383 iridocyclitis susceptibility ISO RGD:1353906 D RGD:7421584|PMID:1625093 20131121 RGD associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:11041764|PMID:10562813 20160328 RGD associated with Sclerosing Lymphocytic Lobulitis 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168013 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:14865008|PMID:28247576 20190912 RGD 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353906 D RGD:5147626|PMID:17728790 20110816 RGD DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1353906 D RGD:5147575|PMID:20510319 20110812 RGD DNA:polymorphisms, haplotypes:cds:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1353906 D RGD:5147569|PMID:20858521 20110811 RGD DNA:polymorphisms, haplotypes:cds:multiple (human) 3469 RT1-Bb RT1 class II, locus Bb gene DOID:986 alopecia areata susceptibility ISO RGD:1353906 D RGD:8547568|PMID:16231148 20140218 RGD DNA:polymorphism: : HLA-DQB1*0604; 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353906 D RGD:11041749|PMID:22434102 20160328 RGD DNA:polymorphisms, haplotypes:cds:multiple 3469 RT1-Bb RT1 class II, locus Bb gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353906 D RGD:11041762|PMID:9744491 20160328 RGD DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human) 3477 RT1-DOa RT1 class II, locus DOa gene DOID:0050553 JMP syndrome ISO RGD:1342704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3477 RT1-DOa RT1 class II, locus DOa gene DOID:0080820 occupational asthma treatment ISO RGD:1342704 D RGD:13506912|PMID:24709764 20180222 RGD DNA:SNP: :rs3128935(human) 3477 RT1-DOa RT1 class II, locus DOa gene DOID:409 liver disease EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3477 RT1-DOa RT1 class II, locus DOa gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342704 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:11372 megacolon ISO RGD:1347423 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1347423 D RGD:5144121|PMID:10706505 20110801 RGD 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:1485 cystic fibrosis ISO RGD:1347423 D RGD:5144066|PMID:20044437 20110729 RGD mRNA:decreased expression::decreased clearance of pathogens? 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:1883 hepatitis C ISO RGD:1347423 D RGD:5144114|PMID:19775370 20110729 RGD 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:2841 asthma ISO RGD:1347423 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:2841 asthma ISO RGD:1347423 D RGD:5144118|PMID:15611928 20110729 RGD 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:2841 asthma susceptibility ISO RGD:1347423 D RGD:7240710 20220105 OMIM 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:4481 allergic rhinitis ISO RGD:1347423 D RGD:5144132|PMID:20487636 20110801 RGD 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:9001488 Human Influenza ISO RGD:1347423 D RGD:5144131|PMID:21087648 20110801 RGD 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:1347423 D RGD:5144145|PMID:19624485 20110801 RGD 3494 RT1-M3-1 RT1 class Ib, locus M3, gene 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1347423 D RGD:5144114|PMID:19775370 20110729 RGD 3527 Rab12 RAB12, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346694 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 3527 Rab12 RAB12, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3527 Rab12 RAB12, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29057844 3527 Rab12 RAB12, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1346694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3528 Rab3a RAB3A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3528 Rab3a RAB3A, member RAS oncogene family gene DOID:9005834 Ependymomas ISO RGD:735498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 3528 Rab3a RAB3A, member RAS oncogene family gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 3529 Rab4a RAB4A, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1351964 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3529 Rab4a RAB4A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3529 Rab4a RAB4A, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351964 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3530 Rabggtb Rab geranylgeranyltransferase subunit beta gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:736470 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 3530 Rabggtb Rab geranylgeranyltransferase subunit beta gene DOID:630 genetic disease ISO RGD:736470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050860 colorectal adenoma ISO RGD:737596 D RGD:13217408|PMID:21122381 20170912 RGD 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737596 D RGD:13217408|PMID:21122381 20170912 RGD 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060581 Noonan syndrome 3 ISO RGD:737596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17603482|PMID:22821648|PMID:25741868|PMID:28492532|PMID:30157809|PMID:30732632 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:7240710 20130221 OMIM 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 PMID:10064593|PMID:10497893|PMID:12077328|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27631234|PMID:27753652|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:31589614|PMID:32269299|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33673806|PMID:8601312|PMID:9536098 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12077328|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603487|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21784453|PMID:22465605|PMID:22781091|PMID:23737487|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:7240710 20130221 OMIM 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 PMID:10064593|PMID:10497893|PMID:12077328|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22558107|PMID:22821648|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30732632|PMID:31030682|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312|PMID:9536098 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:8601312|PMID:9536098|PMID:9705288 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:33318624|PMID:8601312|PMID:9536098|PMID:9705288 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:31983221|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312|PMID:9536098|PMID:9705288 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17603482|PMID:17603483|PMID:17603487|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21784453|PMID:22465605|PMID:22781091|PMID:22826437|PMID:23321623|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:26918529|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511|PMID:29948256 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:737596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:7240710 20170301 OMIM 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26467173|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:31589614|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22558107|PMID:24033266|PMID:25741868|PMID:28492532 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:737596 D RGD:13506811|PMID:15666389 20180219 RGD 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603482|PMID:17603483 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24777450 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532|PMID:29493581 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603483 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:10064593|PMID:11447113|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30732632|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14780 KBG syndrome ISO RGD:737596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:25741868|PMID:28492532 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1790 malignant mesothelioma ISO RGD:737596 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:737596 D RGD:13506897|PMID:15754006 20180221 RGD 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:737596 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glioma 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:326 ischemia ISO RGD:11215 D RGD:1580696|PMID:16172266 19990101 RGD 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:11215 D RGD:12910711|PMID:21339642 20170621 RGD DNA:point mutation:exon:p.L613V (mouse) 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:11063621|PMID:17603482 20170621 RGD DNA:missense mutations:exon:multiple 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:11064112|PMID:17603483 20170621 RGD DNA:missense mutations: exon:multiple 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:11064431|PMID:20052757 20170621 RGD DNA:missense mutations:exon:multiple 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603482|PMID:17603483 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10064593|PMID:11447113|PMID:11933072|PMID:12077328|PMID:12675918|PMID:14701845|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19020799|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32573669|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:737596 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737596 D RGD:14392893|PMID:15014358 20190311 RGD human cells in a mouse model 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4905 pancreatic carcinoma IEP D RGD:14392892|PMID:2278633 20190311 RGD mRNA:increased expression:pancreas (rat) 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603487|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22781091|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24777450|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002211 Hyperalgesia ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18976650 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737596 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002335 Lymphangiectasis ISO RGD:11215 D RGD:12910710|PMID:23391722 20170621 RGD DNA:point mutation:exon :p.S259A (mouse) 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9003936 Cardiomegaly ISO RGD:11215 D RGD:12910709|PMID:22826437 20170621 RGD DNA:point mutation:exon:p.D486N (mouse) 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:737596 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005141 Ventricular Tachycardia ISO RGD:737596 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007096 Stroke ISO RGD:737596 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:737596 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19499222 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:737596 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:8601312 3531 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737596 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12432273 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351009 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0081097 Rafiq syndrome ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:1059 intellectual disability ISO RGD:1351009 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351009 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:3652 Leigh disease ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1351009 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3533 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:630 genetic disease ISO RGD:1351009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3534 Rara retinoic acid receptor, alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733999 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:8616088|PMID:10742073|PMID:14508522|PMID:14706140|PMID:16239915|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:17712046|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21613260|PMID:22213200|PMID:23208507|PMID:25583766|PMID:26285909|PMID:26728337|PMID:28314734|PMID:32882258|PMID:32929351 3534 Rara retinoic acid receptor, alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733999 D RGD:1600902|PMID:15659732 20070330 RGD 3534 Rara retinoic acid receptor, alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733999 D RGD:7240710 20130221 OMIM 3534 Rara retinoic acid receptor, alpha gene DOID:11446 sciatic neuropathy ISO RGD:733999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 3534 Rara retinoic acid receptor, alpha gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:2314289|PMID:17956549 20091109 RGD 3534 Rara retinoic acid receptor, alpha gene DOID:3324 mood disorder ISO RGD:733999 D RGD:2314250|PMID:19596122 20131030 RGD 3534 Rara retinoic acid receptor, alpha gene DOID:630 genetic disease ISO RGD:733999 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15193451|PMID:25741868|PMID:9111026 3534 Rara retinoic acid receptor, alpha gene DOID:684 hepatocellular carcinoma ISO RGD:733999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 3534 Rara retinoic acid receptor, alpha gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2314291|PMID:16420438 20091109 RGD 3534 Rara retinoic acid receptor, alpha gene DOID:9003370 Dyslipidemias ISO RGD:733999 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 3534 Rara retinoic acid receptor, alpha gene DOID:9004240 Phyllodes Tumor ISO RGD:733999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 3534 Rara retinoic acid receptor, alpha gene DOID:9005715 Neoplasms, Second Primary ISO RGD:733999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 3534 Rara retinoic acid receptor, alpha gene DOID:9006947 Fibroadenoma ISO RGD:733999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 3534 Rara retinoic acid receptor, alpha gene DOID:9008939 Breast Neoplasms ISO RGD:733999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 3535 Rarb retinoic acid receptor, beta gene DOID:0060041 autism spectrum disorder ISO RGD:737497 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 3535 Rarb retinoic acid receptor, beta gene DOID:0060728 NGLY1-deficiency ISO RGD:737497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 3535 Rarb retinoic acid receptor, beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:7240710 20140911 OMIM 3535 Rarb retinoic acid receptor, beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:14973393|PMID:17506106|PMID:24075189|PMID:24651605|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 3535 Rarb retinoic acid receptor, beta gene DOID:10629 microphthalmia ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 3535 Rarb retinoic acid receptor, beta gene DOID:11446 sciatic neuropathy ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 3535 Rarb retinoic acid receptor, beta gene DOID:12270 coloboma ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 3535 Rarb retinoic acid receptor, beta gene DOID:1749 squamous cell carcinoma ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 3535 Rarb retinoic acid receptor, beta gene DOID:289 endometriosis ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 3535 Rarb retinoic acid receptor, beta gene DOID:299 adenocarcinoma ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 3535 Rarb retinoic acid receptor, beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:737497 D RGD:13503323|PMID:23599765 20180110 RGD DNA:hypermethylation:lung 3535 Rarb retinoic acid receptor, beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:737497 D RGD:13503324|PMID:18349282 20180110 RGD DNA:hypermethylation:lung 3535 Rarb retinoic acid receptor, beta gene DOID:3910 lung adenocarcinoma ISO RGD:737497 D RGD:13464334|PMID:26695082 20180110 RGD DNA:hypomethylation:lung 3535 Rarb retinoic acid receptor, beta gene DOID:5409 lung small cell carcinoma ISO RGD:737497 D RGD:13825142|PMID:29851970 20181119 RGD DNA:methylation: : 3535 Rarb retinoic acid receptor, beta gene DOID:630 genetic disease ISO RGD:737497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973393|PMID:17506106|PMID:24075189|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 3535 Rarb retinoic acid receptor, beta gene DOID:7596 asbestos-related lung carcinoma ISO RGD:737497 D RGD:13503322|PMID:28722770 20180110 RGD DNA:hypomethylation:lung 3535 Rarb retinoic acid receptor, beta gene DOID:9000217 Stomach Neoplasms ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 3535 Rarb retinoic acid receptor, beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961338 3535 Rarb retinoic acid receptor, beta gene DOID:9005172 Lung Neoplasms ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 3535 Rarb retinoic acid receptor, beta gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 3535 Rarb retinoic acid receptor, beta gene DOID:9008939 Breast Neoplasms ISO RGD:737497 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16255778 3537 Rasa1 RAS p21 protein activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3537 Rasa1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 3537 Rasa1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 3537 Rasa1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 3537 Rasa1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:1581296|PMID:15917201 19990101 RGD 3537 Rasa1 RAS p21 protein activator 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 3537 Rasa1 RAS p21 protein activator 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 3537 Rasa1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:7240710 20230505 OMIM 3537 Rasa1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:737716|PMID:8275088 19990101 RGD DNA:missense mutations:cds: (human) 3537 Rasa1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 3537 Rasa1 RAS p21 protein activator 1 gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:732468 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 3537 Rasa1 RAS p21 protein activator 1 gene DOID:305 carcinoma ISO RGD:732468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 3537 Rasa1 RAS p21 protein activator 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732468 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 3537 Rasa1 RAS p21 protein activator 1 gene DOID:630 genetic disease ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:734495|PMID:14639529 19990101 RGD DNA:mutations:exons:multiple (human) 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732468 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732469 D RGD:9999450|PMID:24157234 20150421 RGD in males;protein:decreased expression:heart left ventricle (mouse) 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:732468 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:732468 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:21626678|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:23801933|PMID:24038909|PMID:24139535|PMID:25640679|PMID:25741868|PMID:26499346|PMID:26774077|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29110021|PMID:29120072|PMID:29171923|PMID:29891884|PMID:30120215|PMID:9536098 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation susceptibility ISO RGD:732468 D RGD:734495|PMID:14639529 20150417 RGD DNA:mutations:multiple (human) 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:732468 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732468 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:7240710 20190327 OMIM 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23801933|PMID:24038909|PMID:25040287|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 3537 Rasa1 RAS p21 protein activator 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868 3538 Rasa2 RAS p21 protein activator 2 gene DOID:1682 congenital heart disease ISO RGD:735538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532 3538 Rasa2 RAS p21 protein activator 2 gene DOID:1909 melanoma ISO RGD:735538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26214590|PMID:26502337 3538 Rasa2 RAS p21 protein activator 2 gene DOID:3490 Noonan syndrome ISO RGD:735538 D RGD:11096563|PMID:25049390 20221028 RGD DNA:missense mutations:exon:multiple (human) 3538 Rasa2 RAS p21 protein activator 2 gene DOID:630 genetic disease ISO RGD:735538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:7240710 20190904 OMIM 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 64 PMID:25741868|PMID:27776107|PMID:28492532|PMID:28822832|PMID:29155103|PMID:29282224 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:2717 Bloom syndrome ISO RGD:69137 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:289 endometriosis ISO RGD:69137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:5419 schizophrenia ISO RGD:69137 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:630 genetic disease ISO RGD:69137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:69137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9007799 Legius Syndrome ISO RGD:69137 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 3539 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9256 colorectal cancer ISO RGD:69137 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731712 D RGD:7240710 20130731 OMIM 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0050804 glioblastoma proneural subtype ISO RGD:731712 D RGD:13782062|PMID:22157621 20180817 RGD RNA:decreased expression:brain: 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0050902 medulloblastoma ISO RGD:11219 D RGD:1302544|PMID:10783170 20150205 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0050902 medulloblastoma ISO RGD:731712 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:28492532 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731712 D RGD:2299890|PMID:15312366 20080819 RGD mRNA, protein:decreased expression:breast 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731712 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:12541220|PMID:14722923|PMID:15884040|PMID:16199547|PMID:16343894|PMID:17096365|PMID:28492532|PMID:7795591 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:11219 D RGD:8547979|PMID:24177421 20140304 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731712 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:731712 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 3540 Rb1 RB transcriptional corepressor 1 gene DOID:0110705 hypotrichosis 8 ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868 3540 Rb1 RB transcriptional corepressor 1 gene DOID:10283 prostate cancer ISO RGD:731712 D RGD:2299887|PMID:18383208 20080819 RGD DNA:loss of heterozygosity 3540 Rb1 RB transcriptional corepressor 1 gene DOID:1059 intellectual disability ISO RGD:731712 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 3540 Rb1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:7240710 20130221 OMIM 3540 Rb1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:2181449|PMID:22703879|PMID:23532519|PMID:24082139|PMID:24225018|PMID:24448499|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 3540 Rb1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731712 D RGD:2299888|PMID:17026804 20080819 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:12173465|PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:2594029|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9400934 3540 Rb1 RB transcriptional corepressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 3540 Rb1 RB transcriptional corepressor 1 gene DOID:1793 pancreatic cancer ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21699781 3540 Rb1 RB transcriptional corepressor 1 gene DOID:2316 brain ischemia ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 3540 Rb1 RB transcriptional corepressor 1 gene DOID:2394 ovarian cancer ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12541220|PMID:16269091|PMID:22703879|PMID:24082139|PMID:24448499|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25741868|PMID:28492532|PMID:32091409|PMID:34190019|PMID:34680218 3540 Rb1 RB transcriptional corepressor 1 gene DOID:2513 basal cell carcinoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3021 acute kidney failure IEP D RGD:8547990|PMID:19428114 20140304 RGD associated with Sepsis;protein:increased phosphorylation:kidney 3540 Rb1 RB transcriptional corepressor 1 gene DOID:305 carcinoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3068 glioblastoma severity ISO RGD:731712 D RGD:13782067|PMID:11204276 20180817 RGD DNA:hypermethylation:promoter: 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3181 oligodendroglioma disease_progression ISO RGD:731712 D RGD:13782064|PMID:15970925 20180817 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3308 embryonal carcinoma ISO RGD:731712 D RGD:2299891|PMID:12754735 20080819 RGD protein:decreased expression:testis 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:7240710 20130221 OMIM 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3376 bone osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:12955724|PMID:1352883|PMID:14722923|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16269091|PMID:16449662|PMID:16463005|PMID:17096365|PMID:17960112|PMID:18677112|PMID:18682685|PMID:20041224|PMID:20447117|PMID:22205104|PMID:22328814|PMID:22963398|PMID:23532519|PMID:24225018|PMID:24688104|PMID:24791139|PMID:25741868|PMID:25754945|PMID:25758528|PMID:2594029|PMID:2601691|PMID:26396485|PMID:26580448|PMID:26787237|PMID:26925970|PMID:27582626|PMID:27983729|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:29261756|PMID:30031154|PMID:32218800|PMID:33493472|PMID:34294096|PMID:7881418|PMID:9311732|PMID:9632788|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731712 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 3540 Rb1 RB transcriptional corepressor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 3540 Rb1 RB transcriptional corepressor 1 gene DOID:4440 seminoma ISO RGD:731712 D RGD:2299891|PMID:12754735 20080819 RGD protein:decreased expression:testis 3540 Rb1 RB transcriptional corepressor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731712 D RGD:2299893|PMID:11549509 20080819 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:4647 trilateral retinoblastoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Trilateral retinoblastoma PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:9400934 3540 Rb1 RB transcriptional corepressor 1 gene DOID:4648 familial retinoblastoma ISO RGD:731712 D RGD:8547984|PMID:17096365 20140304 RGD DNA:mutations:promoter, intron, exon:multiple 3540 Rb1 RB transcriptional corepressor 1 gene DOID:4648 familial retinoblastoma ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary retinoblastoma PMID:10486322|PMID:10617920|PMID:10671068|PMID:11668642|PMID:12541220|PMID:15884040|PMID:16269091|PMID:17576681|PMID:18449911|PMID:18677112|PMID:22084214|PMID:25741868|PMID:25754945|PMID:28492532|PMID:7881418|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9536098|PMID:9671401 3540 Rb1 RB transcriptional corepressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188|PMID:22941189 3540 Rb1 RB transcriptional corepressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25157968|PMID:25741868|PMID:2594029|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 3540 Rb1 RB transcriptional corepressor 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 3540 Rb1 RB transcriptional corepressor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:31775759 3540 Rb1 RB transcriptional corepressor 1 gene DOID:630 genetic disease ISO RGD:731712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3540 Rb1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:14961299 3540 Rb1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 3540 Rb1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:7240710 20130221 OMIM 3540 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8547986|PMID:12402348 20140304 RGD DNA:mutations:exon, intron:multiple 3540 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15877282|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17301081|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23532519|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26475597|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:29662154|PMID:30031154|PMID:30181556|PMID:30192042|PMID:31106028|PMID:31568710|PMID:31645765|PMID:33225895|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8099255|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352398|PMID:1352883|PMID:14516425|PMID:14722923|PMID:14769601|PMID:15166261|PMID:1534305|PMID:15591264|PMID:15605413|PMID:15643604|PMID:1577465|PMID:15776430|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19390654|PMID:19491728|PMID:19763152|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20307669|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22406018|PMID:22703879|PMID:22744425|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27906792|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33225895|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34308366|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7927327|PMID:7981694|PMID:8099255|PMID:8118465|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8756645|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9495340|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:8541 Sezary's disease ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 3540 Rb1 RB transcriptional corepressor 1 gene DOID:8719 in situ carcinoma ISO RGD:731712 D RGD:2299891|PMID:12754735 20080819 RGD protein:decreased expression:testis 3540 Rb1 RB transcriptional corepressor 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731712 D RGD:2299896|PMID:18234283 20080819 RGD associated with Adenocarcinoma 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11219 D RGD:8547983|PMID:21364977 20140304 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:731712 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:21426374|PMID:25741868 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17854601 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002234 Pituitary Neoplasms IEP D RGD:8547989|PMID:10022766 20140304 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731712 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731712 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:28492532 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731712 D RGD:2296051|PMID:17242700 20080819 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:11219 D RGD:2299895|PMID:16510568 20080819 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:731712 D RGD:2299894|PMID:17047088 20080819 RGD DNA:SNPs 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11219 D RGD:9686423|PMID:18420946 20150206 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731712 D RGD:2299889|PMID:15981808 20080819 RGD protein:increased expression:breast 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16972022|PMID:17096365|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22963398|PMID:23532519|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:30031154|PMID:30181556|PMID:31645765|PMID:32218800|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007692 Insulin Resistance ISO RGD:731712 D RGD:8547988|PMID:23315497 20140304 RGD mRNA:decreased expression:adipose tissue 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731712 D RGD:2299055|PMID:14648178 20080819 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14672398|PMID:19234134|PMID:20948315 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:2291991|PMID:11108660 20080408 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731712 D RGD:9698451|PMID:1567185 20150217 RGD 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731712 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731712 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 3540 Rb1 RB transcriptional corepressor 1 gene DOID:9970 obesity ISO RGD:731712 D RGD:8547988|PMID:23315497 20140304 RGD mRNA:decreased expression:adipose tissue 3541 Rbl2 RB transcriptional corepressor like 2 gene DOID:630 genetic disease ISO RGD:733260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3541 Rbl2 RB transcriptional corepressor like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3541 Rbl2 RB transcriptional corepressor like 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 3541 Rbl2 RB transcriptional corepressor like 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733260 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16936753 3541 Rbl2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:7240710 20220316 OMIM 3541 Rbl2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome PMID:25741868|PMID:32105419 3542 Rbbp9 RB binding protein 9, serine hydrolase gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1349258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 3542 Rbbp9 RB binding protein 9, serine hydrolase gene DOID:630 genetic disease ISO RGD:1349258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3543 Rbp1 retinol binding protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 3543 Rbp1 retinol binding protein 1 gene DOID:305 carcinoma ISO RGD:732391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3543 Rbp1 retinol binding protein 1 gene DOID:630 genetic disease ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3543 Rbp1 retinol binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16134180|PMID:16367923 3543 Rbp1 retinol binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3543 Rbp1 retinol binding protein 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732391 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 3543 Rbp1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292404|PMID:12376462 20220330 RGD mRNA, protein:increased expression:mammary gland (rat) 3543 Rbp1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3543 Rbp1 retinol binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 3544 Rbp2 retinol binding protein 2 gene DOID:630 genetic disease ISO RGD:734415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3545 Rbp3 retinol binding protein 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:735986 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3545 Rbp3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:7240710 20140911 OMIM 3545 Rbp3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:21067480|PMID:23105016|PMID:23486466|PMID:24963161|PMID:25741868|PMID:25766589|PMID:27829784|PMID:28492532|PMID:9614228 3545 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23486466 3545 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8547535|PMID:23701314 20140217 RGD 3545 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532|PMID:28512305 3545 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 3545 Rbp3 retinol binding protein 3 gene DOID:13141 uveitis ISO RGD:735986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 3545 Rbp3 retinol binding protein 3 gene DOID:417 autoimmune disease ISO RGD:735986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20007828|PMID:21850155 3545 Rbp3 retinol binding protein 3 gene DOID:5419 schizophrenia ISO RGD:735986 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3545 Rbp3 retinol binding protein 3 gene DOID:630 genetic disease ISO RGD:735986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3545 Rbp3 retinol binding protein 3 gene DOID:8501 fundus dystrophy ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23105016|PMID:25766589|PMID:26872967|PMID:28492532|PMID:9614228 3546 Rbp4 retinol binding protein 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 3546 Rbp4 retinol binding protein 4 gene DOID:11267 keratomalacia ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9888420 3546 Rbp4 retinol binding protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17456573 3546 Rbp4 retinol binding protein 4 gene DOID:12270 coloboma ISO RGD:735251 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:29178648 3546 Rbp4 retinol binding protein 4 gene DOID:305 carcinoma ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3546 Rbp4 retinol binding protein 4 gene DOID:557 kidney disease ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 3546 Rbp4 retinol binding protein 4 gene DOID:6000 congestive heart failure ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 3546 Rbp4 retinol binding protein 4 gene DOID:630 genetic disease ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25910211|PMID:28492532 3546 Rbp4 retinol binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3546 Rbp4 retinol binding protein 4 gene DOID:9000343 Vision Disorders ISO RGD:735251 D RGD:1601613|PMID:9888420 20070426 RGD retinol-binding protein deficiency;DNA:point mutation:exon:p.I41N, p.G75D (human) 3546 Rbp4 retinol binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3546 Rbp4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:7240710 20170510 OMIM 3546 Rbp4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 PMID:25741868|PMID:25910211 3546 Rbp4 retinol binding protein 4 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762690 3546 Rbp4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:7240710 20140911 OMIM 3546 Rbp4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PMID:10232633|PMID:16157297|PMID:23189188|PMID:25741868|PMID:25910211|PMID:28492532|PMID:9888420 3546 Rbp4 retinol binding protein 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3546 Rbp4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 3546 Rbp4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3546 Rbp4 retinol binding protein 4 gene DOID:9005749 Necrosis ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 3546 Rbp4 retinol binding protein 4 gene DOID:9008296 Eye Abnormalities ISO RGD:735251 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 3546 Rbp4 retinol binding protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:735251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16157297 3546 Rbp4 retinol binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:735251 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 3546 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311652|PMID:19080170 20090728 RGD protein:increased expression:serum 3546 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735251 D RGD:2311651|PMID:19506831 20090728 RGD protein:increased expression:serum 3546 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735251 D RGD:1601615|PMID:17174134 20070426 RGD DNA:polymorphism 3546 Rbp4 retinol binding protein 4 gene DOID:9970 obesity IEP D RGD:2302016|PMID:18401839 20081114 RGD mRNA, protein:decreased expression:adipose tissue, serum 3548 Rcn2 reticulocalbin 2 gene DOID:2717 Bloom syndrome ISO RGD:733014 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3548 Rcn2 reticulocalbin 2 gene DOID:5419 schizophrenia ISO RGD:733014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3548 Rcn2 reticulocalbin 2 gene DOID:630 genetic disease ISO RGD:733014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3548 Rcn2 reticulocalbin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3548 Rcn2 reticulocalbin 2 gene DOID:9256 colorectal cancer ISO RGD:733014 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 3549 Prph2 peripherin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 3549 Prph2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26842753|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism 3549 Prph2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8553221|PMID:15370544 20140508 RGD DNA:polymorphism:cds:p.Y141C(human) 3549 Prph2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8553239|PMID:9338584 20140508 RGD DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human) 3549 Prph2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8554859|PMID:12566026 20140509 RGD DNA:deletion:cds:112del(human) 3549 Prph2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy PMID:25741868|PMID:28492532|PMID:32531846 3549 Prph2 peripherin 2 gene DOID:0050662 bestrophinopathy ISO RGD:735709 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:11139241|PMID:15370544|PMID:16113362|PMID:16799052|PMID:22466463|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25741868|PMID:28492532|PMID:28559085|PMID:32531846|PMID:33546218 3549 Prph2 peripherin 2 gene DOID:0050795 cone dystrophy ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11139263|PMID:11801511|PMID:17653047|PMID:19038374|PMID:19243827|PMID:22003107|PMID:22334370|PMID:23950152|PMID:25741868|PMID:25999674|PMID:27813578|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29155698|PMID:29555955|PMID:30215852|PMID:30718709|PMID:31456290|PMID:32531846|PMID:33546218|PMID:34906036|PMID:8644804 3549 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:735709 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism 3549 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8553221|PMID:15370544 20140508 RGD DNA:polymorphism:cds:p.Y141C(human) 3549 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8553236|PMID:17031298 20140508 RGD DNA:deletion,insertion:cds: 3549 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8553238|PMID:16340530 20140508 RGD DNA:mutation:splice junction: 3549 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8554864|PMID:8485574 20140509 RGD DNA:mutation:cds:p.G167D(human) 3549 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7825692|PMID:7880786|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:7240710 20181219 OMIM 3549 Prph2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:34906502|PMID:7493155|PMID:7710395|PMID:7825692|PMID:7880786|PMID:8004111|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8251014|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:735710 D RGD:8554862|PMID:23650562 20140509 RGD 3549 Prph2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:7240710 20130425 OMIM 3549 Prph2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:10193525|PMID:10532447|PMID:10800708|PMID:11139241|PMID:11297544|PMID:11427722|PMID:11853584|PMID:11934323|PMID:12925772|PMID:14510799|PMID:16019073|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17148040|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23105016|PMID:23847139|PMID:23950152|PMID:24265693|PMID:24416769|PMID:24463884|PMID:24608669|PMID:24963162|PMID:25082885|PMID:25412400|PMID:25447119|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26321861|PMID:26355662|PMID:26667666|PMID:26720483|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:33546218|PMID:7493155|PMID:7825692|PMID:7880786|PMID:7904791|PMID:8015786|PMID:8019570|PMID:8020945|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8740695|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872 3549 Prph2 peripherin 2 gene DOID:10283 prostate cancer ISO RGD:735709 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8547535|PMID:23701314 20140217 RGD 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8553188|PMID:22842402 20140507 RGD DNA:polymorphism:: c.389T>C (p.L130P)(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8553218|PMID:11853584 20140507 RGD DNA:polymprphism: :p.P216L(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8553222|PMID:16180699 20140508 RGD DNA:polymorphism:exon:p.E304Q,G338D(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8553234|PMID:1684223 20140508 RGD DNA:deletion,missense mutations:cds:p.P216L,L185P(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8553237|PMID:9587927 20140508 RGD DNA:polymorphism:cds:p.F211L(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554860|PMID:7993211 20140509 RGD DNA:mutation:cds:p.N244K(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554861|PMID:8912967 20140509 RGD DNA:mutation:cds:p.V200E(human) 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9361310|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735710 D RGD:8553216|PMID:11978760 20140507 RGD 3549 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735710 D RGD:8553235|PMID:9040483 20140508 RGD DNA:polymprphism:cds:p.P216L(mouse) 3549 Prph2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:7240710 20130221 OMIM 3549 Prph2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:8553223|PMID:8485575 20140508 RGD DNA:deletion:cds: 3549 Prph2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant PMID:10627133|PMID:11139241|PMID:12042139|PMID:14510799|PMID:15579992|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:20213611|PMID:21071739|PMID:22863181|PMID:24629188|PMID:25268133|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28492530|PMID:28492532|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261 3549 Prph2 peripherin 2 gene DOID:1417 choroid disease ISO RGD:735709 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Choroidal Dystrophy PMID:25741868|PMID:28492532|PMID:32531846 3549 Prph2 peripherin 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:735709 D RGD:8553209|PMID:23847139 20140507 RGD DNA:polymorphism:cds:p.L185P(human) 3549 Prph2 peripherin 2 gene DOID:4448 macular degeneration ISO RGD:735709 D RGD:8553205|PMID:20335603 20140507 RGD DNA:polymorphism:cds:p.R172W(human) 3549 Prph2 peripherin 2 gene DOID:4448 macular degeneration ISO RGD:735709 D RGD:8553231|PMID:14557182 20140508 RGD DNA:deletion:cds: 3549 Prph2 peripherin 2 gene DOID:4448 macular degeneration ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10532447|PMID:10627133|PMID:12042139|PMID:16916875|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19243827|PMID:21071739|PMID:22003107|PMID:22863181|PMID:25082885|PMID:25447119|PMID:25675413|PMID:25741868|PMID:26061163|PMID:27365499|PMID:279751|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9443872 3549 Prph2 peripherin 2 gene DOID:5679 retinal disease IEP D RGD:8553226|PMID:8320859 20140508 RGD 3549 Prph2 peripherin 2 gene DOID:630 genetic disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:9052636 3549 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:8553212|PMID:9052636 20140507 RGD DNA:polymorphism:cds:p.S27F(human) 3549 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:8553215|PMID:18050133 20140507 RGD DNA:polymorphism:cds:874A>G(p.S212G)(human) 3549 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:8553219|PMID:7862413 20140507 RGD DNA:polymorphism:cds:p.P210R(human) 3549 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735710 D RGD:8553191|PMID:2918924 20140507 RGD 3549 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735710 D RGD:8553193|PMID:10888879 20140507 RGD 3549 Prph2 peripherin 2 gene DOID:8501 fundus dystrophy ISO RGD:735709 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:28723922 3549 Prph2 peripherin 2 gene DOID:8501 fundus dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10532447|PMID:10627133|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:11934323|PMID:12042139|PMID:12045052|PMID:12566026|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16340530|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25390130|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25999674|PMID:26061163|PMID:26355662|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28761320|PMID:29155698|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30726412|PMID:30731082|PMID:30822235|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8943002|PMID:8994365|PMID:9052636|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:8501 fundus dystrophy no_association ISO RGD:735709 D RGD:8553224|PMID:9690896 20140508 RGD DNA:polymorphism:exon:p.E304Q,G338D(human) 3549 Prph2 peripherin 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10193525|PMID:10532447|PMID:11139241|PMID:11485765|PMID:11704030|PMID:12045052|PMID:1427912|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:19038374|PMID:19262438|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25082885|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:33546218|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7862413|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9338584|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:9003803 Retinitis Pigmentosa, Late-Onset Dominant ISO RGD:735709 D RGD:8553240|PMID:8244346 20140508 RGD DNA:polymorphism:cds:p.C214S(human) 3549 Prph2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:7240710 20130425 OMIM 3549 Prph2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE PMID:10193525|PMID:10532447|PMID:11139241|PMID:11139263|PMID:11801511|PMID:14510799|PMID:14557183|PMID:16019073|PMID:16767206|PMID:16799052|PMID:16832026|PMID:16885924|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22334370|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25082885|PMID:25268133|PMID:25474345|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26321861|PMID:26667666|PMID:26796962|PMID:27813578|PMID:27884173|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872 3549 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:7240710 20190227 OMIM 3549 Prph2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 PMID:10532447|PMID:11139241|PMID:12566026|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:22003107|PMID:22466463|PMID:22863181|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25472526|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:26796962|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:4142662|PMID:7519821|PMID:7862413|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 3549 Prph2 peripherin 2 gene DOID:905 Zellweger syndrome ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 3549 Prph2 peripherin 2 gene DOID:980 choroidal sclerosis ISO RGD:735709 D RGD:8553207|PMID:8644804 20140507 RGD DNA:polymorphism:cds:p.R142W(human) 3549 Prph2 peripherin 2 gene DOID:980 choroidal sclerosis ISO RGD:735709 D RGD:8554858|PMID:16832026 20140509 RGD DNA:missense mutation:cds:p.R195L(human) 3549 Prph2 peripherin 2 gene DOID:980 choroidal sclerosis ISO RGD:735709 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 3549 Prph2 peripherin 2 gene DOID:9821 Choroideremia ISO RGD:735709 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 3552 Reg1a regenerating family member 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:737018 D RGD:9850119|PMID:2394826 20150327 RGD mRNA:increased expression:brain (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:12894 Sjogren's syndrome ISO RGD:737018 D RGD:9850137|PMID:19016805 20150330 RGD protein:increased expression:minor salivary gland, salivary ductal epithelium (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737018 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 3552 Reg1a regenerating family member 1 alpha gene DOID:219 colon cancer IEP D RGD:9850131|PMID:2332435 20150330 RGD mRNA:increased expression:colon mucosa (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:737018 D RGD:10044031|PMID:11343228 20150602 RGD mRNA, protein:increased expression:liver (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:557 kidney disease ISO RGD:737018 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868 3552 Reg1a regenerating family member 1 alpha gene DOID:5844 myocardial infarction IEP D RGD:9850130|PMID:15778284 20150330 RGD mRNA:increased expression:heart left ventricle (rat) 3552 Reg1a regenerating family member 1 alpha gene DOID:630 genetic disease ISO RGD:737018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3552 Reg1a regenerating family member 1 alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:737019 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15940630 3552 Reg1a regenerating family member 1 alpha gene DOID:9005013 Calcific Pancreatitis ISO RGD:737018 D RGD:9850117|PMID:3147713 20150327 RGD protein:decreased expression:pancreatic juice (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9850143|PMID:8574288 20150330 RGD protein:increased expression:pancreas, islet cell (rat) 3552 Reg1a regenerating family member 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:9850123|PMID:8170952 20150327 RGD 3552 Reg1a regenerating family member 1 alpha gene DOID:9006190 Chronic Pancreatitis IEP D RGD:9831428|PMID:12764608 20150330 RGD protein:increased expression:pancreas, acinar cell, zymogen granule (rat) 3552 Reg1a regenerating family member 1 alpha gene DOID:9006646 Metabolic Syndrome treatment IDA D RGD:10044029|PMID:21685239 20150602 RGD 3552 Reg1a regenerating family member 1 alpha gene DOID:9006840 Hypergastrinemia ISO RGD:737018 D RGD:9850135|PMID:10348814 20150714 RGD mRNA:increased expression:gastric corpus (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:729900|PMID:1985964 20150327 RGD mRNA:increased expression:pancreas (rat) 3552 Reg1a regenerating family member 1 alpha gene DOID:9007558 Acute Experimental Pancreatitis severity IMP D RGD:9850139|PMID:19129610 20150330 RGD 3552 Reg1a regenerating family member 1 alpha gene DOID:9007787 Carcinoid Tumor ISO RGD:737018 D RGD:9850135|PMID:10348814 20150714 RGD associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) 3552 Reg1a regenerating family member 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:737018 D RGD:9850125|PMID:9564847 20150327 RGD human protein in a mouse model 3553 Reln reelin gene DOID:0050453 lissencephaly ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 3553 Reln reelin gene DOID:0060041 autism spectrum disorder ISO RGD:735880 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:24781735|PMID:28191889 3553 Reln reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 3553 Reln reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:25620207|PMID:2564880|PMID:25648840|PMID:25741868|PMID:26467025|PMID:26544041|PMID:27064498|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29969175|PMID:30891068|PMID:31875159|PMID:33004838 3553 Reln reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25620207|PMID:25648840|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29056246|PMID:29358611|PMID:29969175|PMID:30891068|PMID:33004838 3553 Reln reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:7240710 20170315 OMIM 3553 Reln reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29358611|PMID:32860008 3553 Reln reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:7240710 20130221 OMIM 3553 Reln reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:11748497|PMID:14515139|PMID:14593429|PMID:16199547|PMID:16311013|PMID:16958033|PMID:17124408|PMID:17366345|PMID:17431900|PMID:17576681|PMID:17955477|PMID:18414213|PMID:19319887|PMID:19435634|PMID:20697953|PMID:21549172|PMID:23287318|PMID:23334996|PMID:23757202|PMID:24267886|PMID:24385848|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25326637|PMID:25620207|PMID:25621899|PMID:25640679|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26302956|PMID:26459092|PMID:26467025|PMID:26901136|PMID:27884173|PMID:28419454|PMID:28454995|PMID:28492532|PMID:28677532|PMID:28783747|PMID:29056246|PMID:29358611|PMID:29671837|PMID:29706646|PMID:29969175|PMID:30091983|PMID:30891068|PMID:31031587|PMID:31134136|PMID:31144778|PMID:31209962|PMID:32086284|PMID:33004838|PMID:33453592|PMID:33994118|PMID:34489640|PMID:7682675|PMID:9536098 3553 Reln reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735881 D RGD:13207512|PMID:28123028 20170803 RGD 3553 Reln reelin gene DOID:1059 intellectual disability ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14515139|PMID:24828792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28677532|PMID:29969175 3553 Reln reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20610758 3553 Reln reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:13207521|PMID:20025970 20170804 RGD protein: increased expression: brain 3553 Reln reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:729771|PMID:12645087 20100429 RGD protein:increased expression:cerebrospinal fluid (human) 3553 Reln reelin gene DOID:12849 autistic disorder ISO RGD:735880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11317216|PMID:11814262|PMID:20442744 3553 Reln reelin gene DOID:12849 autistic disorder ISO RGD:735880 D RGD:2317973|PMID:15820235 20100510 RGD mRNA, protein:decreased expression:cerebellum, Brodmann area 9 (human) 3553 Reln reelin gene DOID:12849 autistic disorder ISO RGD:735880 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Autism PMID:24467814|PMID:25741868|PMID:28492532 3553 Reln reelin gene DOID:12849 autistic disorder no_association ISO RGD:735880 D RGD:13207520|PMID:15048647 20170803 RGD increased GGC repeats 3553 Reln reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:13207517|PMID:20436377 20170803 RGD increased GGC repeats 3553 Reln reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9743913|PMID:11317216 19990101 RGD DNA:repeat:promoter: (human) 3553 Reln reelin gene DOID:1324 lung cancer ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 3553 Reln reelin gene DOID:14250 Down syndrome ISO RGD:735880 D RGD:13207521|PMID:20025970 20170804 RGD protein: increased expression: brain 3553 Reln reelin gene DOID:1459 hypothyroidism IEP D RGD:634730|PMID:10436054 20100430 RGD protein:increased expression:layers of neocortex, hypothalamus (rat) 3553 Reln reelin gene DOID:1470 major depressive disorder ISO RGD:735880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11126396 3553 Reln reelin gene DOID:1596 depressive disorder ISO RGD:735880 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3553 Reln reelin gene DOID:1824 status epilepticus IEP D RGD:2317783|PMID:17314278 20100511 RGD protein:decreased expression:dentate gyrus (rat) 3553 Reln reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 3553 Reln reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 3553 Reln reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:11126396|PMID:14708030|PMID:15560956 3553 Reln reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:2324681|PMID:11126396 20100510 RGD protein:decreased expression:hippocampus (human) 3553 Reln reelin gene DOID:3328 temporal lobe epilepsy ISO RGD:735880 D RGD:13207524|PMID:19287316 20170804 RGD protein: increased methylation: brain 3553 Reln reelin gene DOID:3328 temporal lobe epilepsy severity ISO RGD:735880 D RGD:2317926|PMID:12122039 20100430 RGD mRNA:decreased expression:hippocampus (human) 3553 Reln reelin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735880 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29358611 3553 Reln reelin gene DOID:3525 middle cerebral artery infarction severity ISO RGD:735881 D RGD:13207538|PMID:16438965 20170804 RGD 3553 Reln reelin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735880 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3553 Reln reelin gene DOID:5082 liver cirrhosis ISO RGD:735880 D RGD:2317777|PMID:18449964 20100423 RGD protein:altered expression:plasma (human) 3553 Reln reelin gene DOID:5419 schizophrenia ISO RGD:735880 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:11126396|PMID:14708030|PMID:15560956|PMID:19110320 3553 Reln reelin gene DOID:5419 schizophrenia ISO RGD:735880 D RGD:2324681|PMID:11126396 20100510 RGD protein:decreased expression:hippocampus (human) 3553 Reln reelin gene DOID:5419 schizophrenia ISO RGD:735880 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3553 Reln reelin gene DOID:630 genetic disease ISO RGD:735880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973257|PMID:11748497|PMID:14515139|PMID:16958033|PMID:17431900|PMID:17955477|PMID:24267886|PMID:24848745|PMID:25621899|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26467025|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29671837|PMID:29969175|PMID:33004838 3553 Reln reelin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2317777|PMID:18449964 20100422 RGD mRNA, protein:increased expression:liver, plasma (rat) 3553 Reln reelin gene DOID:9004866 Ataxia ISO RGD:735881 D RGD:2324615|PMID:7715726 20100506 RGD 3553 Reln reelin gene DOID:9006255 Sacroiliac Arthritis ISO RGD:735880 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Arthritis, sacroiliac 3553 Reln reelin gene DOID:9006534 Nervous System Malformations ISO RGD:735880 D RGD:1358410|PMID:10973257 20100503 RGD mRNA:splicing errors:exon 36, exon 42:c.5705_5790del, c.6696_6844del (human) 3554 Ren renin gene DOID:0050477 Liddle syndrome ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12185466 3554 Ren renin gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736366 D RGD:125097501|PMID:31505456 20210401 RGD protein:increased expression:blood serum (human) 3554 Ren renin gene DOID:0060001 withdrawal disorder ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:28415 3554 Ren renin gene DOID:0060180 colitis treatment ISO RGD:1332384 D RGD:125097500|PMID:24858618 20210401 RGD 3554 Ren renin gene DOID:0060224 atrial fibrillation ISO RGD:736366 D RGD:6892701|PMID:21911268 20120814 RGD associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) 3554 Ren renin gene DOID:0080827 human cytomegalovirus infection ISO RGD:736366 D RGD:40400905|PMID:29752343 20210331 RGD protein:decreased expression:blood plasma (human) 3554 Ren renin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 3554 Ren renin gene DOID:1074 kidney failure ISO RGD:1332384 D RGD:39939034|PMID:28533331 20210331 RGD 3554 Ren renin gene DOID:10762 portal hypertension ISO RGD:736366 D RGD:1580698|PMID:12854169 19990101 RGD 3554 Ren renin gene DOID:10763 hypertension IDA D RGD:1580671|PMID:16467505 19990101 RGD 3554 Ren renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:6784501|PMID:22681982 20120801 RGD 3554 Ren renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:6892655|PMID:22493079 20120807 RGD protein:decreased activity:plasma (mouse) 3554 Ren renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:45830|PMID:62162|PMID:998518|PMID:1071603|PMID:1149188|PMID:6381767|PMID:7721401|PMID:11501062|PMID:12414515|PMID:12600921|PMID:17537837|PMID:18679781|PMID:18847324|PMID:19770776|PMID:19934029|PMID:20429690|PMID:20811386|PMID:21393355 3554 Ren renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:1580697|PMID:16138564 19990101 RGD 3554 Ren renin gene DOID:10824 malignant hypertension ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2493837 3554 Ren renin gene DOID:10825 essential hypertension ISO RGD:736366 D RGD:125097505|PMID:1152295 20210401 RGD 3554 Ren renin gene DOID:10881 hand, foot and mouth disease treatment ISO RGD:736366 D RGD:127285374|PMID:31638922 20210617 RGD 3554 Ren renin gene DOID:11476 osteoporosis ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18847324 3554 Ren renin gene DOID:1184 nephrotic syndrome ISO RGD:736366 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 3554 Ren renin gene DOID:12236 primary biliary cholangitis IEP D RGD:6892690|PMID:22266601 20120809 RGD protein:increased activity:plasma (rat) 3554 Ren renin gene DOID:12849 autistic disorder ISO RGD:736366 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3554 Ren renin gene DOID:14115 toxic shock syndrome exacerbates ISO RGD:736366 D RGD:125097502|PMID:31723628 20210401 RGD protein:increased activity:blood plasma (human) 3554 Ren renin gene DOID:1540 parathyroid carcinoma ISO RGD:736366 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3554 Ren renin gene DOID:1591 renovascular hypertension ISO RGD:1332384 D RGD:6892688|PMID:22378822 20120808 RGD mRNA:increased expression:renal cortex (mouse) 3554 Ren renin gene DOID:1591 renovascular hypertension ISO RGD:736366 D RGD:125097504|PMID:2240003 20210401 RGD protein:increased activity:blood plasma (human) 3554 Ren renin gene DOID:1596 depressive disorder ISO RGD:736366 D RGD:125097507|PMID:29960014 20210401 RGD Associated with hypertension;protein:decreased activity:blood (human) 3554 Ren renin gene DOID:2355 anemia ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 3554 Ren renin gene DOID:2527 nephrosis ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:6358456 3554 Ren renin gene DOID:3021 acute kidney failure exacerbates ISO RGD:736366 D RGD:125097506|PMID:30407370 20210401 RGD Associated with toxic shock syndrome;protein:increased expression:blood plasma (human) 3554 Ren renin gene DOID:326 ischemia ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3915608 3554 Ren renin gene DOID:3388 periodontal disease treatment ISO RGD:1332384 D RGD:125097482|PMID:31333451 20210331 RGD Associated with Diabetes Mellitus, experimental 3554 Ren renin gene DOID:445 Bartter disease ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:929154|PMID:3519017|PMID:15976003 3554 Ren renin gene DOID:446 primary hyperaldosteronism ISO RGD:736366 D RGD:126908012|PMID:15080782 20210510 RGD protein:increased activity:blood plasma (human) 3554 Ren renin gene DOID:5082 liver cirrhosis ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 3554 Ren renin gene DOID:557 kidney disease ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6156352|PMID:8723173|PMID:12414515 3554 Ren renin gene DOID:557 kidney disease ISO RGD:736366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 3554 Ren renin gene DOID:576 proteinuria ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:464098|PMID:2046802 3554 Ren renin gene DOID:5844 myocardial infarction ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1668233 3554 Ren renin gene DOID:5844 myocardial infarction susceptibility ISO RGD:736366 D RGD:6892687|PMID:1759997 20120808 RGD associated with Hypertension; protein:increased activity:plasma (human) 3554 Ren renin gene DOID:6000 congestive heart failure ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1647690|PMID:7034517|PMID:20811386 3554 Ren renin gene DOID:6000 congestive heart failure exacerbates ISO RGD:736366 D RGD:126908011|PMID:17526990 20210510 RGD protein:increased activity:blood plasma (human) 3554 Ren renin gene DOID:630 genetic disease ISO RGD:736366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21473025|PMID:25741868|PMID:28492532 3554 Ren renin gene DOID:687 hepatoblastoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 3554 Ren renin gene DOID:8544 chronic fatigue syndrome ISO RGD:736366 D RGD:6892702|PMID:21906029 20120814 RGD associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human) 3554 Ren renin gene DOID:8893 psoriasis ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3540694 3554 Ren renin gene DOID:9000445 Azotemia ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6338847 3554 Ren renin gene DOID:9000784 Fibrosis ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12414515 3554 Ren renin gene DOID:9001542 Albuminuria ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781 3554 Ren renin gene DOID:9001725 Retina Reperfusion Injury treatment IMP D RGD:11039406|PMID:24709336 20160302 RGD 3554 Ren renin gene DOID:9001827 Critical Illness exacerbates ISO RGD:736366 D RGD:125097479|PMID:30653055 20210331 RGD protein:increased activity:blood plasma (human) 3554 Ren renin gene DOID:9002165 Diabetic Nephropathies IDA D RGD:1579795|PMID:15489960 20070426 RGD 3554 Ren renin gene DOID:9002231 Fetal Growth Retardation ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 3554 Ren renin gene DOID:9003936 Cardiomegaly ISO RGD:1332384 D RGD:6771378|PMID:15367398 20120731 RGD mRNA:increased expression:heart, kidney (mouse) 3554 Ren renin gene DOID:9003936 Cardiomegaly ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20429690|PMID:20811386 3554 Ren renin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3554 Ren renin gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:6771379|PMID:22796710 20120731 RGD protein:decreased activity:plasma (rat) 3554 Ren renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8349331|PMID:18679781 3554 Ren renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:7240710 20141216 OMIM 3554 Ren renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 PMID:16116425|PMID:19664745|PMID:21084044|PMID:21473025|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 3554 Ren renin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18829990 3554 Ren renin gene DOID:9005721 Preeclamptic Toxemia ISO RGD:736366 D RGD:125097480|PMID:683663 20210331 RGD protein:increased activity:blood plasma (human) 3554 Ren renin gene DOID:9005930 Endotoxemia IEP D RGD:125097499|PMID:16512638 20210401 RGD protein:increased activity:blood plasma (rat) 3554 Ren renin gene DOID:9005930 Endotoxemia ISO RGD:1332384 D RGD:125097481|PMID:30027346 20210331 RGD protein:increased activity:blood plasma (mouse) 3554 Ren renin gene DOID:9006024 Hypotension ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:3536153|PMID:6251761|PMID:11171655 3554 Ren renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism PMID:16116425 3554 Ren renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:1598878|PMID:16116425 20120809 RGD DNA:polymorphisms:cds, intron:multiple (human) 3554 Ren renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:7240710 20130221 OMIM 3554 Ren renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:16116425|PMID:17443344|PMID:21036942|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 3554 Ren renin gene DOID:9006635 Hyponatremia IEP D RGD:125097503|PMID:25841323 20210401 RGD protein: increased activity:blood plasma (rat) 3554 Ren renin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8723173 3554 Ren renin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:11039400|PMID:8446257 20160302 RGD 3554 Ren renin gene DOID:9008217 Hemorrhage ISO RGD:736366 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6991409 3554 Ren renin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736366 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3554 Ren renin gene DOID:9970 obesity ISO RGD:736366 D RGD:6784503|PMID:22648117 20120801 RGD mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:0050855 renal fibrosis IMP D RGD:14348960|PMID:29570433 20190201 RGD 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:2305853 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:2305853 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:10763 hypertension IMP D RGD:14348960|PMID:29570433 20190201 RGD 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:1148 polydactyly ISO RGD:2305853 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:630 genetic disease ISO RGD:2305853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3555 Resp18 regulated endocrine-specific protein 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2305853 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7915165|PMID:8099202|PMID:12864791 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:2324920|PMID:19719936 20100514 RGD DNA:mutation:cds (human) 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:7240710 20130221 OMIM 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31937788|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11746981|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16384843|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19366855|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20123584|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20454948|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23140918|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27986441|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28747092|PMID:28799054|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:31937788|PMID:31983649|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076 3556 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8654369|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7915165|PMID:12864791 3556 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:7240710 20130221 OMIM 3556 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10323403|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10549772|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11386462|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11562352|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:12000816|PMID:12019403|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12686527|PMID:12694233|PMID:12788868|PMID:12920219|PMID:14517954|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15386323|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16325365|PMID:16343097|PMID:16384843|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16813623|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17097365|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18541894|PMID:18805915|PMID:18984779|PMID:19041016|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20041006|PMID:20065189|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20719260|PMID:20739875|PMID:20833330|PMID:20847059|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22403753|PMID:22584710|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24449023|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24805091|PMID:24845513|PMID:25157968|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25887804|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26084817|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26356818|PMID:26395553|PMID:26467025|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27807060|PMID:27809725|PMID:27884173|PMID:27994876|PMID:28125075|PMID:28137737|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29026273|PMID:29097883|PMID:29192238|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836 3556 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30392857|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:31937788|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32732076|PMID:32923848|PMID:33084974|PMID:33167350|PMID:33450337|PMID:33827484|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7595170|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma IEP D RGD:2324930|PMID:18317952 20100517 RGD protein:increased expression:adrenal gland medulla 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12000816 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:7240710 20130221 OMIM 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28166811|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26883533|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899 3556 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:0050902 medulloblastoma ISO RGD:735296 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:11436122|PMID:24033266|PMID:25741868|PMID:28492532 3556 Ret ret proto-oncogene gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9497256|PMID:12086152 3556 Ret ret proto-oncogene gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:10076558|PMID:10090908|PMID:10618407|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12410354|PMID:14557476|PMID:14633923|PMID:15184865|PMID:15386323|PMID:15741265|PMID:15858153|PMID:16325365|PMID:16343097|PMID:16532227|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17108762|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17590169|PMID:17605401|PMID:17664273|PMID:17704047|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20142552|PMID:20369307|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20719260|PMID:20979234|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21475823|PMID:21479187|PMID:21711375|PMID:21712996|PMID:21810974|PMID:22174939|PMID:22584709|PMID:22703879|PMID:23084198|PMID:23259706|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24617864|PMID:24728327|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26467025|PMID:26559152|PMID:26580448|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:3078962|PMID:31510104|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33827484|PMID:7824936|PMID:7835899|PMID:7907913|PMID:7915165|PMID:8099202|PMID:8626834|PMID:8797874|PMID:8896569|PMID:9067749|PMID:9174404|PMID:9230192|PMID:9452077|PMID:9498388|PMID:9606292|PMID:9839497|PMID:9868860|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:9950371 3556 Ret ret proto-oncogene gene DOID:0080204 renal hypoplasia ISO RGD:735296 D RGD:155641253|PMID:18820179 20221107 RGD DNA:SNP:exon 7:rs1800860 (human) 3556 Ret ret proto-oncogene gene DOID:0080205 CAKUT ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:27657687|PMID:28492532|PMID:29641532 3556 Ret ret proto-oncogene gene DOID:0080855 Parkinsonism IEP D RGD:6218972|PMID:12210101 20120307 RGD mRNA:altered expression:brain 3556 Ret ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:7240710 20130221 OMIM 3556 Ret ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11295841|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18284634|PMID:18541894|PMID:18805915|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20847059|PMID:20943719|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23084198|PMID:23259706|PMID:23295303|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23745650|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26556299|PMID:26559152|PMID:26580448 3556 Ret ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26876062|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27807060|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28137737|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29420094|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31666091|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32408902|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:9950371 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8114938|PMID:8896568 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:12910713|PMID:24897126 20170621 RGD DNA:SNPs:exon, intron:multiple 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:7240710 20230505 OMIM 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24569963|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8894691|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:34092334|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28166811|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625 3556 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 3556 Ret ret proto-oncogene gene DOID:10907 microcephaly ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30217742|PMID:32164334 3556 Ret ret proto-oncogene gene DOID:11372 megacolon ISO RGD:735296 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Megacolon PMID:25741868 3556 Ret ret proto-oncogene gene DOID:11836 clubfoot ISS RGD:11234 D RGD:13592920 20180518 MouseDO OMIM:119800 3556 Ret ret proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:11230481|PMID:11524247|PMID:12000816|PMID:12116277|PMID:12604374|PMID:12686527|PMID:12746565|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16099853|PMID:16736292|PMID:16868135|PMID:17047083|PMID:17097365|PMID:18062802|PMID:18063059|PMID:18096130|PMID:19062722|PMID:19469690|PMID:2008030|PMID:20080836|PMID:21655256|PMID:21765987|PMID:23723040|PMID:24716929|PMID:25157968|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26046350|PMID:26467025|PMID:26732158|PMID:27539324|PMID:28099363|PMID:28469506|PMID:28492532|PMID:29133048|PMID:29197744|PMID:29656518|PMID:3078962|PMID:33167350|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7860065|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:8099202|PMID:8570194|PMID:9067749|PMID:9111992|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9699127|PMID:9820617|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:1459 hypothyroidism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:14766 renal agenesis ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252215 3556 Ret ret proto-oncogene gene DOID:14766 renal agenesis ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RENAL APLASIA PMID:11230481|PMID:15320968|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21986619|PMID:23067224|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:33167350 3556 Ret ret proto-oncogene gene DOID:1612 breast cancer ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10646792|PMID:11955539|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20956458|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:31614935|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 3556 Ret ret proto-oncogene gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735296 D RGD:2324926|PMID:16269310 20100517 RGD protein:increased expression:pancreas 3556 Ret ret proto-oncogene gene DOID:1824 status epilepticus ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12914250 3556 Ret ret proto-oncogene gene DOID:2316 brain ischemia IEP D RGD:6218981|PMID:10407114 20120307 RGD protein:increased expression:cerebral cortex 3556 Ret ret proto-oncogene gene DOID:2394 ovarian cancer ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10076558|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15386323|PMID:15741265|PMID:16343097|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17316110|PMID:17466010|PMID:17664273|PMID:17895320|PMID:18062802|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20039896|PMID:20142552|PMID:20369307|PMID:20494215|PMID:20516206|PMID:20719260|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21711375|PMID:21810974|PMID:22174939|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24617864|PMID:25349307|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26467025|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:29192238|PMID:29590403|PMID:29641532|PMID:29684080|PMID:30217742|PMID:31510104|PMID:32164334|PMID:32283892|PMID:32923848|PMID:33167350|PMID:33450337|PMID:8797874|PMID:9452077|PMID:9606292 3556 Ret ret proto-oncogene gene DOID:3070 high grade glioma ISO RGD:735296 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:25741868 3556 Ret ret proto-oncogene gene DOID:3086 gingival overgrowth ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gingival enlargement PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:3125 multiple endocrine neoplasia ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17664273 3556 Ret ret proto-oncogene gene DOID:3125 multiple endocrine neoplasia ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10369718|PMID:10445857|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17483988|PMID:17540634|PMID:17610518|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20368568|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30660595|PMID:30680046|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9090527|PMID:9242375|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9727738|PMID:9760196|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:3459 breast carcinoma ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 3556 Ret ret proto-oncogene gene DOID:3963 thyroid gland carcinoma ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid gland carcinoma PMID:10522989|PMID:11389085|PMID:11987030|PMID:12000816|PMID:12466368|PMID:15184865|PMID:15472167|PMID:15588376|PMID:16314641|PMID:16525712|PMID:16707008|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17573899|PMID:17605401|PMID:17639058|PMID:17895320|PMID:18063059|PMID:18209889|PMID:19015274|PMID:19825962|PMID:21765987|PMID:21810974|PMID:22900816|PMID:23416954|PMID:23617071|PMID:23861463|PMID:24561444|PMID:24784869|PMID:25027091|PMID:25157968|PMID:25440022|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26467025|PMID:27539324|PMID:27698838|PMID:28469506|PMID:28492532|PMID:2904651|PMID:30624503|PMID:3078962|PMID:31510104|PMID:7608256|PMID:7824936|PMID:7849700|PMID:7907913|PMID:8099202|PMID:8103403|PMID:8570194|PMID:8757765|PMID:8765374|PMID:8909322|PMID:8918855|PMID:9230192 3556 Ret ret proto-oncogene gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735296 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 3556 Ret ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7915165 3556 Ret ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11524247|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21655256|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23295303|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26332594|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:27014708|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29396759|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31300450|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32408902|PMID:33167350|PMID:33340421|PMID:33532864|PMID:33827484|PMID:34092334|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675 3556 Ret ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:4232 extraosseous Ewing sarcoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ewing sarcoma of soft tissue PMID:24336963|PMID:24429398|PMID:24755471|PMID:25256751|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29263839|PMID:29642553|PMID:30583724|PMID:30680046|PMID:31428572|PMID:31658439|PMID:32099073|PMID:32179705 3556 Ret ret proto-oncogene gene DOID:4851 pilocytic astrocytoma ISO RGD:735296 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:28492532 3556 Ret ret proto-oncogene gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735296 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10646792|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 3556 Ret ret proto-oncogene gene DOID:630 genetic disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:6419 tetralogy of Fallot ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11230481|PMID:12116277|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16736292|PMID:17047083|PMID:17097365|PMID:18062802|PMID:25157968|PMID:25810047|PMID:26046350|PMID:28492532|PMID:29656518|PMID:7784092|PMID:7845675|PMID:7911697|PMID:9111992|PMID:9242375|PMID:9263528 3556 Ret ret proto-oncogene gene DOID:684 hepatocellular carcinoma severity ISO RGD:735296 D RGD:9068941 20210820 RGD protein:increased expression:liver (human) PMID:28350084|REF_RGD_ID:150340602 3556 Ret ret proto-oncogene gene DOID:8337 appendicitis ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Appendicitis PMID:11230481|PMID:15320968|PMID:16384843|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21986619|PMID:23067224|PMID:24033266|PMID:24728327|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:31937788|PMID:33167350 3556 Ret ret proto-oncogene gene DOID:8584 Burkitt lymphoma ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 3556 Ret ret proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:735296 D RGD:2324925|PMID:18652760 20100517 RGD associated with Pancreatic Neoplasms 3556 Ret ret proto-oncogene gene DOID:9000998 Brain Injuries IEP D RGD:2324932|PMID:18501516 20100517 RGD mRNA:increased expression:brain 3556 Ret ret proto-oncogene gene DOID:9001581 Constipation ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Constipation PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:6218979|PMID:10407179 20120307 RGD mRNA:increased expression:hypoglossal XII nerve 3556 Ret ret proto-oncogene gene DOID:9003133 Hypertelorism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:10528857|PMID:10646792|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108762|PMID:17483988|PMID:17610518|PMID:18058472|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20080836|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20801952|PMID:20956458|PMID:20981092|PMID:21311890|PMID:21349203|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23461807|PMID:23527089|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24897126|PMID:25256751|PMID:25326637|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25985138|PMID:26076779|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27600092|PMID:27798940|PMID:27884173|PMID:28492532|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30680046|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:34925234|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7881414|PMID:8114938|PMID:9090527|PMID:9506724|PMID:9727738|PMID:9760196 3556 Ret ret proto-oncogene gene DOID:9004001 Facial Nerve Injuries IEP D RGD:6218984|PMID:9582449 20120307 RGD mRNA:increased expression:facial VII nucleus 3556 Ret ret proto-oncogene gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10369718|PMID:10445857|PMID:10679286|PMID:11230481|PMID:11351254|PMID:15277225|PMID:15320968|PMID:16715139|PMID:16849421|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23660872|PMID:24033266|PMID:24336963|PMID:24728327|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26332594|PMID:26467025|PMID:26489027|PMID:2660074|PMID:27379493|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:28946813|PMID:30660595|PMID:3078962|PMID:31510104|PMID:33167350|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10369718|PMID:10445857|PMID:10679286|PMID:11230481|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:15320968|PMID:16715139|PMID:16849421|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23660872|PMID:24033266|PMID:24331334|PMID:24336963|PMID:24728327|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26332594|PMID:26467025|PMID:26489027|PMID:2660074|PMID:27379493|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:28946813|PMID:30660595|PMID:3078962|PMID:31510104|PMID:33167350|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9004492 Familial Amyloidosis ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12864791 3556 Ret ret proto-oncogene gene DOID:9004547 Thyroid Neoplasms ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16940797 3556 Ret ret proto-oncogene gene DOID:9004547 Thyroid Neoplasms ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19469690|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24331334|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9005077 Joint Instability ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9006195 Medullary Carcinomas ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7915165 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11389085|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21520333|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22270996|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:32430905|PMID:33167350|PMID:33433679|PMID:33827484|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29378779|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31666091|PMID:31892348|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27854218|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256 3556 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 3556 Ret ret proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Short stature PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:30660595|PMID:3078962|PMID:31510104|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 3556 Ret ret proto-oncogene gene DOID:9008443 Colorectal Neoplasms ISO RGD:735296 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 3556 Ret ret proto-oncogene gene DOID:9008681 Deafness IEP D RGD:2324943|PMID:16738479 20100517 RGD mRNA:increased expression:vestibulocochlear VIII nerve cochlear component 3556 Ret ret proto-oncogene gene DOID:9008952 Breast Cancer, Familial ISO RGD:735296 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12000816|PMID:12566528|PMID:15531714|PMID:15753368|PMID:15870131|PMID:16118333|PMID:16705552|PMID:17021738|PMID:17483988|PMID:17610518|PMID:19826964|PMID:19906784|PMID:20080836|PMID:21311890|PMID:21810974|PMID:22584710|PMID:22703879|PMID:23723040|PMID:24033266|PMID:24375508|PMID:25425582|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532|PMID:31510104|PMID:9090527|PMID:9506724 3556 Ret ret proto-oncogene gene DOID:9256 colorectal cancer ISO RGD:735296 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 3560 Rgn regucalcin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732128 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3560 Rgn regucalcin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 3560 Rgn regucalcin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 3560 Rgn regucalcin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 3560 Rgn regucalcin gene DOID:10534 stomach cancer severity ISO RGD:732128 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 3560 Rgn regucalcin gene DOID:1168 familial hyperlipidemia IMP D RGD:9590273|PMID:15375596 20141121 RGD 3560 Rgn regucalcin gene DOID:12849 autistic disorder ISO RGD:732128 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3560 Rgn regucalcin gene DOID:1289 neurodegenerative disease ISO RGD:11237 D RGD:9590213|PMID:19437547 20141119 RGD protein:increased expression:hippocampus 3560 Rgn regucalcin gene DOID:5082 liver cirrhosis ISO RGD:732128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 3560 Rgn regucalcin gene DOID:557 kidney disease ISO RGD:732128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18805471 3560 Rgn regucalcin gene DOID:630 genetic disease ISO RGD:732128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3560 Rgn regucalcin gene DOID:684 hepatocellular carcinoma IEP D RGD:5509919|PMID:21683810 20141120 RGD protein:decreased expression:liver 3560 Rgn regucalcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 3560 Rgn regucalcin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 3560 Rgn regucalcin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732128 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3560 Rgn regucalcin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9590177|PMID:9062895 20141117 RGD protein:decreased expression:liver 3560 Rgn regucalcin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:0080600 COVID-19 ISO RGD:735445 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:735445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:3347 osteosarcoma ISO RGD:735445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:37 skin disease ISO RGD:735445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:630 genetic disease ISO RGD:735445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:735445 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:735445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:9008331 Tendon Injuries treatment IDA D RGD:10395300|PMID:23519232 20150901 RGD 3561 Rgs1 regulator of G-protein signaling 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735445 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3562 Rgs10 regulator of G-protein signaling 10 gene DOID:11206 opioid abuse IEP D RGD:13524518|PMID:22056472 20180413 RGD 3562 Rgs10 regulator of G-protein signaling 10 gene DOID:630 genetic disease ISO RGD:737086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3562 Rgs10 regulator of G-protein signaling 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3562 Rgs10 regulator of G-protein signaling 10 gene DOID:9007090 Experimental Seizures IEP D RGD:13524540|PMID:12358788 20180417 RGD 3563 Rgs11 regulator of G-protein signaling 11 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321340 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 3563 Rgs11 regulator of G-protein signaling 11 gene DOID:1826 epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 3563 Rgs11 regulator of G-protein signaling 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3563 Rgs11 regulator of G-protein signaling 11 gene DOID:630 genetic disease ISO RGD:1321340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3564 Rgs12 regulator of G-protein signaling 12 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731521 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 3564 Rgs12 regulator of G-protein signaling 12 gene DOID:1856 cherubism ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 3564 Rgs12 regulator of G-protein signaling 12 gene DOID:5419 schizophrenia ISO RGD:731521 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 3564 Rgs12 regulator of G-protein signaling 12 gene DOID:630 genetic disease ISO RGD:731521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3566 Rgs3 regulator of G-protein signaling 3 gene DOID:12528 lesion of sciatic nerve IEP D RGD:13524539|PMID:14550772 20180417 RGD mRNA:decreased expression:dorsal root ganglion 3566 Rgs3 regulator of G-protein signaling 3 gene DOID:365 bladder disease treatment IEP D RGD:9684972|PMID:19689474 20180416 RGD associated with hypertension 3566 Rgs3 regulator of G-protein signaling 3 gene DOID:630 genetic disease ISO RGD:731031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3566 Rgs3 regulator of G-protein signaling 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 35668861 LEW-Tg(HLA-B*2705,B2M)Tg/021-3Reh strain DOID:9401 epididymo-orchitis sexual_dimorphism IAGP D RGD:25671476|PMID:22488218 20200709 RGD in males 35668863 LEW-Tg(HLA-B*2705,B2M)21-3RehTg/Tg strain DOID:848 arthritis IAGP D RGD:25671476|PMID:22488218 20200709 RGD 35668863 LEW-Tg(HLA-B*2705,B2M)21-3RehTg/Tg strain DOID:9401 epididymo-orchitis sexual_dimorphism IAGP D RGD:25671476|PMID:22488218 20200709 RGD in males 35668863 LEW-Tg(HLA-B*2705,B2M)21-3RehTg/Tg strain DOID:9778 irritable bowel syndrome IAGP D RGD:25671476|PMID:22488218 20200709 RGD 35669098 CVCL_ZB60 C6 rho-0#14 cell line DOID:3070 high grade glioma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C64069 35669662 CVCL_ZJ78 Wrh-f2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 35669663 CVCL_ZJ79 Wrh-s2 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60416 35669729 CVCL_ZL55 INS-1 832/3 cell line DOID:3892 insulinoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C121566 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:0080855 Parkinsonism treatment ISO RGD:70083 D RGD:13524517|PMID:25844489 20180413 RGD 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:10763 hypertension treatment IEP D RGD:7207400|PMID:21825230 20180412 RGD 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:11206 opioid abuse IEP D RGD:13524518|PMID:22056472 20180413 RGD 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:12528 lesion of sciatic nerve IEP D RGD:13524539|PMID:14550772 20180417 RGD mRNA:decreased expression:dorsal root ganglion 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:1540 parathyroid carcinoma ISO RGD:70082 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:1824 status epilepticus IEP D RGD:13524534|PMID:19126440 20180416 RGD 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:1826 epilepsy treatment IDA D RGD:13524511|PMID:28320185 20180412 RGD 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:289 endometriosis ISO RGD:70082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:365 bladder disease treatment IEP D RGD:9684972|PMID:19689474 20180416 RGD associated with hypertension 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:630 genetic disease ISO RGD:70082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13524513|PMID:27641322 20180412 RGD associated with lesion of sciatic nerve 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:9007090 Experimental Seizures IEP D RGD:13524540|PMID:12358788 20180417 RGD 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:9008394 Drug-Induced Dyskinesia treatment IMP D RGD:13524515|PMID:24969021 20180413 RGD associated with Parkinsonian Disorders 3567 Rgs4 regulator of G-protein signaling 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:70082 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 35670092 CVCL_ZF70 OVC-FRT cell line DOID:3247 rhabdomyosarcoma IEA D RGD:21410187 20200917 CELLOSAURUS NCI:C60504 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730866 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs15049) C>A (human) 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:10763 hypertension ISO RGD:730866 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1798635 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:10763 hypertension treatment IEP D RGD:7207400|PMID:21825230 20180412 RGD 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:10825 essential hypertension ISO RGD:730866 D RGD:7240710 20130221 OMIM 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:1540 parathyroid carcinoma ISO RGD:730866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:630 genetic disease ISO RGD:730866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3568 Rgs5 regulator of G-protein signaling 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730866 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3569 Rgs6 regulator of G-protein signaling 6 gene DOID:630 genetic disease ISO RGD:736970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:1059 intellectual disability ISO RGD:733586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733586 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:630 genetic disease ISO RGD:733586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733586 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:733586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:9007090 Experimental Seizures IEP D RGD:13524540|PMID:12358788 20180417 RGD 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:9007096 Stroke ISO RGD:733586 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 3570 Rgs7 regulator of G-protein signaling 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733586 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3571 Rgs8 regulator of G-protein signaling 8 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 3571 Rgs8 regulator of G-protein signaling 8 gene DOID:1540 parathyroid carcinoma ISO RGD:737105 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3571 Rgs8 regulator of G-protein signaling 8 gene DOID:630 genetic disease ISO RGD:737105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3571 Rgs8 regulator of G-protein signaling 8 gene DOID:9007090 Experimental Seizures IEP D RGD:13524540|PMID:12358788 20180417 RGD 3571 Rgs8 regulator of G-protein signaling 8 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737105 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 3571 Rgs8 regulator of G-protein signaling 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737105 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:0050335 bradyopsia ISO RGD:732260 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:0050335 bradyopsia ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:17826834|PMID:19818506|PMID:25741868|PMID:28492532|PMID:30718709 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:0080855 Parkinsonism IEP D RGD:13524532|PMID:20561938 20180416 RGD protein:decreased expression:striatum 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:736730 D RGD:13524864|PMID:18160641 20180501 RGD 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:0080855 Parkinsonism treatment IEP D RGD:13524862|PMID:21963945 20180501 RGD 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:14791 Leber congenital amaurosis ISO RGD:732260 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:14702087|PMID:17826834|PMID:19818506|PMID:28492532|PMID:30718709 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:5419 schizophrenia ISO RGD:732260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:630 genetic disease ISO RGD:732260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:8646 substance-induced psychosis ISO RGD:732260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:9000878 Bradyopsia 1 ISO RGD:732260 D RGD:7240710 20230505 OMIM 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732260 D RGD:1599999|PMID:14702087 20070222 RGD DNA:mutation 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:732260 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 3572 Rgs9 regulator of G-protein signaling 9 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18160641|PMID:24663062 3573 Rho rhodopsin gene DOID:0050534 congenital stationary night blindness ISO RGD:731395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8358437 3573 Rho rhodopsin gene DOID:0050534 congenital stationary night blindness ISO RGD:731395 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant PMID:28492532 3573 Rho rhodopsin gene DOID:0050572 cone-rod dystrophy ISO RGD:731395 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11139241|PMID:12871954|PMID:17488458|PMID:19913029|PMID:21094163|PMID:21219898|PMID:25741868|PMID:28492532|PMID:29847639|PMID:30240733|PMID:30718709|PMID:7981701|PMID:8088850|PMID:9380676 3573 Rho rhodopsin gene DOID:0050578 occult macular dystrophy ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Occult macular dystrophy PMID:1882937|PMID:20591486|PMID:2215617|PMID:25265376|PMID:25741868|PMID:28492532|PMID:30977563|PMID:8486634 3573 Rho rhodopsin gene DOID:0050817 Stargardt disease ISO RGD:731395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 3573 Rho rhodopsin gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17936999|PMID:23484092|PMID:25741868|PMID:28492532|PMID:30977563 3573 Rho rhodopsin gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 3573 Rho rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:7240710 20130425 OMIM 3573 Rho rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive PMID:10874327|PMID:10967073|PMID:10980774|PMID:11094174|PMID:11139241|PMID:11141431|PMID:11879142|PMID:11910130|PMID:12091393|PMID:12660238|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1356370|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15145060|PMID:15232620|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:19958124|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20532191|PMID:20555336|PMID:20805032|PMID:20832389|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:2137202|PMID:21677794|PMID:21922596|PMID:22110080|PMID:2215617|PMID:22252712|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:22791210|PMID:22956602|PMID:22968130|PMID:23221340|PMID:23288993|PMID:2333895|PMID:23484092|PMID:23591405|PMID:23625926|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:24938718|PMID:25096327|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25359768|PMID:25366773|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25999674|PMID:2613244|PMID:26202387|PMID:26887858|PMID:26962691|PMID:27624628|PMID:27694816|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29463953|PMID:29847639|PMID:29890221|PMID:30029497|PMID:30240733|PMID:30538586|PMID:30718709|PMID:30972525|PMID:30977563|PMID:31087526|PMID:31100078|PMID:31213501|PMID:31319082|PMID:31456290|PMID:31877679|PMID:31908405|PMID:32013026|PMID:32037395|PMID:32531858|PMID:33247286|PMID:33576794|PMID:7523628|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8081400|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:8943080|PMID:9197578|PMID:9380676|PMID:9452035|PMID:9483582|PMID:9536098|PMID:9724753|PMID:9810568 3573 Rho rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:7240710 20130221 OMIM 3573 Rho rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 PMID:10521250|PMID:10967073|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12860986|PMID:12871954|PMID:1418997|PMID:14769795|PMID:14971589|PMID:15126168|PMID:15509574|PMID:16123440|PMID:16767206|PMID:17488458|PMID:18175313|PMID:18987202|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20591486|PMID:20805032|PMID:21094163|PMID:21217109|PMID:21219898|PMID:2137202|PMID:22110080|PMID:22164218|PMID:22321012|PMID:22323724|PMID:2239971|PMID:22995991|PMID:24760071|PMID:24853414|PMID:2509724|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26202387|PMID:26962691|PMID:27458239|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:33347869|PMID:33669941|PMID:7846071|PMID:7981701|PMID:8081400|PMID:8088850|PMID:8107847|PMID:8317502|PMID:8358437|PMID:9050844|PMID:9380676|PMID:9618546|PMID:9810568|PMID:9888392 3573 Rho rhodopsin gene DOID:0111947 immunodeficiency 21 ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:11239 D RGD:8548513|PMID:16643895 20140307 RGD 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:11239 D RGD:8548514|PMID:16332273 20140307 RGD DNA:missense mutation: :p.Y110C (mouse) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:11239 D RGD:8548516|PMID:22252712 20140307 RGD 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:2137202|PMID:2215617|PMID:9020854|PMID:9391065|PMID:16737970|PMID:18273801|PMID:19206210|PMID:28715844 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:1601619|PMID:2215617 20070426 RGD DNA:point mutation:exon:P23H, P347L, P347S, T58R 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8547535|PMID:23701314 20140217 RGD 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8547991|PMID:22419850 20140304 RGD DNA:deletion:exon:c.614_622del (p.Y206_F208del) (human) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8548490|PMID:23402891 20140306 RGD DNA:missense mutation:cds:c.233A>T (p.N78I) (human) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8548491|PMID:23470535 20140306 RGD DNA:missense mutation: :p.T17M (human) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8548512|PMID:19960070 20140307 RGD DNA:missense mutation:cds:c.448G>A (p.E150K) (human) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8548518|PMID:23288993 20140307 RGD DNA:missense mutations:cds:505G>C (p.A169P), 1040C>A (p.P347Q) (human) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8548543|PMID:9810568 20140311 RGD DNA:missense mutation:exon:p.C110Y (human) 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31908405|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17488458|PMID:17576681|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:33576794|PMID:7981701|PMID:7987326|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:11239 D RGD:8547992|PMID:21126223 20140304 RGD 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:11239 D RGD:8548552|PMID:17083931 20140311 RGD 3573 Rho rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:731395 D RGD:8548515|PMID:21268285 20140307 RGD 3573 Rho rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:8554077 3573 Rho rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:7240710 20130221 OMIM 3573 Rho rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10967073|PMID:12660238|PMID:12966518|PMID:1484692|PMID:16767206|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:18987202|PMID:1924344|PMID:20525296|PMID:21077204|PMID:21217109|PMID:21352497|PMID:21677794|PMID:21922596|PMID:25101269|PMID:25741868|PMID:25999674|PMID:27458239|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30977563|PMID:31319082|PMID:33669941|PMID:7846071|PMID:7987331|PMID:8107847|PMID:8554077|PMID:8841304|PMID:9197578|PMID:9380676 3573 Rho rhodopsin gene DOID:630 genetic disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3573 Rho rhodopsin gene DOID:7765 Coats disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676 3573 Rho rhodopsin gene DOID:8466 retinal degeneration ISO RGD:11239 D RGD:8548485|PMID:17525223 20140306 RGD 3573 Rho rhodopsin gene DOID:8466 retinal degeneration ISO RGD:731395 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:8692941|PMID:27233447 3573 Rho rhodopsin gene DOID:8466 retinal degeneration ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532|PMID:30972525 3573 Rho rhodopsin gene DOID:8499 night blindness ISO RGD:731395 D RGD:1601620|PMID:8358437 20070426 RGD CSNBAD1,OMIM:610445;DNA:point mutation:exon:A292E 3573 Rho rhodopsin gene DOID:8499 night blindness ISO RGD:731395 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Night blindness PMID:20555336|PMID:2215617|PMID:25221422|PMID:25741868|PMID:28041643|PMID:28492532 3573 Rho rhodopsin gene DOID:8501 fundus dystrophy ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10189219|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12660238|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16799052|PMID:17014888|PMID:17488458|PMID:1765377|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20164459|PMID:20555336|PMID:20805032|PMID:21094163|PMID:21174529|PMID:21352497|PMID:2137202|PMID:22110080|PMID:2215617|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:2333895|PMID:23940033|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:25101269|PMID:25221422|PMID:25366773|PMID:25741868|PMID:2613244|PMID:26202387|PMID:26962691|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:31877679|PMID:31908405|PMID:31960602|PMID:32037395|PMID:33347869|PMID:33576794|PMID:7724183|PMID:7987326|PMID:8081400|PMID:8088850|PMID:8253795|PMID:8328469|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9010870|PMID:9197578|PMID:9452035|PMID:9724753|PMID:9810568 3573 Rho rhodopsin gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:731395 D RGD:8554872 20190115 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:17825553 3573 Rho rhodopsin gene DOID:9006630 Stargardt Disease 1 ISO RGD:731395 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 3573 Rho rhodopsin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 3573 Rho rhodopsin gene DOID:9270 alkaptonuria ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 3574 Rnase1 ribonuclease A family member 1, pancreatic gene DOID:0080600 COVID-19 ISO RGD:1320822 D RGD:9068941 20220331 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3574 Rnase1 ribonuclease A family member 1, pancreatic gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 3574 Rnase1 ribonuclease A family member 1, pancreatic gene DOID:630 genetic disease ISO RGD:1320822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3574 Rnase1 ribonuclease A family member 1, pancreatic gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320822 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis ISO RGD:1353458 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis ISO RGD:1353458 D RGD:8554872 20181002 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 PMID:12908099 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1353458 D RGD:7240710 20230505 OMIM 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1353458 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:630 genetic disease ISO RGD:1353458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353458 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1353458 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 3575 Pdlim4 PDZ and LIM domain 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3576 Ring1 ring finger protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1353088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3576 Ring1 ring finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353088 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 3576 Ring1 ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1353088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3579 Rln1 relaxin 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1344895 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 3579 Rln1 relaxin 1 gene DOID:630 genetic disease ISO RGD:1344895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3579 Rln1 relaxin 1 gene DOID:9000040 Hypertrophy ISO RGD:1344895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22028442 3580 Rpph1 ribonuclease P RNA component H1 gene DOID:6000 congestive heart failure severity ISO RGD:1344011 D RGD:243048444|PMID:27317124 20230331 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) 3580 Rpph1 ribonuclease P RNA component H1 gene DOID:9003936 Cardiomegaly ISO RGD:1619921 D RGD:243048444|PMID:27317124 20230331 RGD RNA:increased expression:heart left ventricle (mouse) 3583 Rnf4 ring finger protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737478 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 3583 Rnf4 ring finger protein 4 gene DOID:1856 cherubism ISO RGD:737478 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 3583 Rnf4 ring finger protein 4 gene DOID:1932 Angelman syndrome ISO RGD:737478 D RGD:9831454|PMID:15014980 20150309 RGD mRNA:increased expression:blood (human) 3583 Rnf4 ring finger protein 4 gene DOID:630 genetic disease ISO RGD:737478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3583 Rnf4 ring finger protein 4 gene DOID:9004207 Testicular Neoplasms ISO RGD:737478 D RGD:9831408|PMID:14644130 20150305 RGD mRNA:decreased expression:testes (human) 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:5419 schizophrenia ISO RGD:731503 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731503 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:630 genetic disease ISO RGD:731503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731503 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:1642807|PMID:17316608 20080730 RGD 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:731503 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9007023 Prenatal Injuries ISO RGD:731503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731503 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9008386 Hydrops Fetalis ISO RGD:731503 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 3590 Rock2 Rho-associated coiled-coil containing protein kinase 2 gene DOID:9565 dextrocardia ISO RGD:731503 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Dextrocardia 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:736329 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:736329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:736329 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:736329 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:1826 epilepsy ISO RGD:736329 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:736329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:736329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276365 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22215748|PMID:22585869|PMID:22617245|PMID:22919003 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:736329 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22215748 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:23724914|PMID:27993330 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:736329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:9000495 Tremor ISO RGD:736329 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 3591 Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase gene DOID:9007661 Dwarfism ISO RGD:736329 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 3593 Rpl39 ribosomal protein L39 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735612 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3593 Rpl39 ribosomal protein L39 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 3593 Rpl39 ribosomal protein L39 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 3593 Rpl39 ribosomal protein L39 gene DOID:12849 autistic disorder ISO RGD:735612 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3593 Rpl39 ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:735612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3594 Rpn1 ribophorin I gene DOID:0111947 immunodeficiency 21 ISO RGD:731637 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 3594 Rpn1 ribophorin I gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731637 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3594 Rpn1 ribophorin I gene DOID:630 genetic disease ISO RGD:731637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3594 Rpn1 ribophorin I gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 3594 Rpn1 ribophorin I gene DOID:9270 alkaptonuria ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 3595 Rps18 ribosomal protein S18 gene DOID:0050553 JMP syndrome ISO RGD:1342484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3595 Rps18 ribosomal protein S18 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1342484 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 3596 Rps29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:7240710 20170308 OMIM 3596 Rps29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 PMID:24829207|PMID:25741868|PMID:28492532 3596 Rps29 ribosomal protein S29 gene DOID:630 genetic disease ISO RGD:734258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3596 Rps29 ribosomal protein S29 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734258 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3596 Rps29 ribosomal protein S29 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 3601 Rps5 ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:736632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3602 Rps6 ribosomal protein S6 gene DOID:224 transient cerebral ischemia IDA D RGD:11041643|PMID:26556340 20160325 RGD 3602 Rps6 ribosomal protein S6 gene DOID:630 genetic disease ISO RGD:735279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3602 Rps6 ribosomal protein S6 gene DOID:684 hepatocellular carcinoma ISO RGD:735279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 3602 Rps6 ribosomal protein S6 gene DOID:8725 vascular dementia treatment IEP D RGD:11041644|PMID:25767501 20160325 RGD 3602 Rps6 ribosomal protein S6 gene DOID:9000217 Stomach Neoplasms ISO RGD:735279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3602 Rps6 ribosomal protein S6 gene DOID:9000918 Disease Progression ISO RGD:735279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3602 Rps6 ribosomal protein S6 gene DOID:9002311 Experimental Autoimmune Myocarditis IDA D RGD:11041642|PMID:22014063 20160325 RGD 3602 Rps6 ribosomal protein S6 gene DOID:9007874 Liver Failure IEP D RGD:11040911|PMID:501300 20160316 RGD 3602 Rps6 ribosomal protein S6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD 3602 Rps6 ribosomal protein S6 gene DOID:9008237 Hemimegalencephaly ISO RGD:735279 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly 3602 Rps6 ribosomal protein S6 gene DOID:9008939 Breast Neoplasms ISO RGD:735279 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 3610 Rxra retinoid X receptor alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 3610 Rxra retinoid X receptor alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 3610 Rxra retinoid X receptor alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 3610 Rxra retinoid X receptor alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 3610 Rxra retinoid X receptor alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 3610 Rxra retinoid X receptor alpha gene DOID:0081097 Rafiq syndrome ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 3610 Rxra retinoid X receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:736929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 3610 Rxra retinoid X receptor alpha gene DOID:12930 dilated cardiomyopathy ISS RGD:11250 D RGD:13592920 20180518 MouseDO 3610 Rxra retinoid X receptor alpha gene DOID:12935 alcoholic cardiomyopathy IEP D RGD:2317465|PMID:19791468 20100406 RGD 3610 Rxra retinoid X receptor alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736929 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 3610 Rxra retinoid X receptor alpha gene DOID:1682 congenital heart disease ISS RGD:11250 D RGD:13592920 20180518 MouseDO 3610 Rxra retinoid X receptor alpha gene DOID:1790 malignant mesothelioma ISO RGD:736929 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3610 Rxra retinoid X receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:736929 D RGD:2317462|PMID:19152448 20100406 RGD 3610 Rxra retinoid X receptor alpha gene DOID:2671 transitional cell carcinoma ISO RGD:736929 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 3610 Rxra retinoid X receptor alpha gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736929 D RGD:2317461|PMID:19396032 20100406 RGD 3610 Rxra retinoid X receptor alpha gene DOID:3652 Leigh disease ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 3610 Rxra retinoid X receptor alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736929 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 3610 Rxra retinoid X receptor alpha gene DOID:630 genetic disease ISO RGD:736929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3610 Rxra retinoid X receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736929 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 3610 Rxra retinoid X receptor alpha gene DOID:8634 prostate carcinoma in situ IEP D RGD:1643115|PMID:15318950 20071129 RGD protein:decreased expression:prostate 3610 Rxra retinoid X receptor alpha gene DOID:9000965 Neoplasm Metastasis IEP D RGD:1643115|PMID:15318950 20071129 RGD associated with Prostatic Neoplasms 3610 Rxra retinoid X receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736929 D RGD:1643114|PMID:15566521 20071129 RGD 3610 Rxra retinoid X receptor alpha gene DOID:9001579 Neurogenic Inflammation IEP D RGD:1643108|PMID:16782282 20071129 RGD protein:increased expression:macrophage 3610 Rxra retinoid X receptor alpha gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:1643105|PMID:17786350 20071129 RGD mRNA, protein:decreased expression:liver 3610 Rxra retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms IEP D RGD:1643115|PMID:15318950 20071129 RGD protein:decreased expression:prostate 3610 Rxra retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15318950 3610 Rxra retinoid X receptor alpha gene DOID:9002498 Wallerian Degeneration IEP D RGD:1643108|PMID:16782282 20071129 RGD mRNA:increased expression:sciatic nerve 3610 Rxra retinoid X receptor alpha gene DOID:9004484 Sepsis IDA D RGD:2317466|PMID:19008781 20100406 RGD protein:altered localization:liver 3610 Rxra retinoid X receptor alpha gene DOID:9004484 Sepsis IEP D RGD:1643106|PMID:17483744 20071129 RGD protein:decreased expression:liver 3610 Rxra retinoid X receptor alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:736929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 3610 Rxra retinoid X receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:1643109|PMID:16344269 20071129 RGD 3610 Rxra retinoid X receptor alpha gene DOID:9009073 Diaphragmatic Hernia IEP D RGD:1643107|PMID:17270546 20071129 RGD mRNA:increased expression:lung 3610 Rxra retinoid X receptor alpha gene DOID:9074 systemic lupus erythematosus ISS RGD:11250 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 3610 Rxra retinoid X receptor alpha gene DOID:9538 multiple myeloma ISO RGD:736929 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 3610 Rxra retinoid X receptor alpha gene DOID:9970 obesity susceptibility ISO RGD:11250 D RGD:1643104|PMID:15936932 20071129 RGD 3611 Rxrb retinoid X receptor beta gene DOID:0050553 JMP syndrome ISO RGD:735628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3611 Rxrb retinoid X receptor beta gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735628 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 3611 Rxrb retinoid X receptor beta gene DOID:630 genetic disease ISO RGD:735628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3611 Rxrb retinoid X receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:735628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3611 Rxrb retinoid X receptor beta gene DOID:9000918 Disease Progression ISO RGD:735628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 3611 Rxrb retinoid X receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:735628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:730890 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:730890 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:730890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:11612 polycystic ovary syndrome IAGP D RGD:5688285|PMID:22349439 20120224 RGD DNA:hypomethylation:promoter:g.218, 224 (rat) 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:11612 polycystic ovary syndrome IEP D RGD:5688285|PMID:22349439 20120224 RGD mRNA:increased expression:ovary (rat) 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:12849 autistic disorder ISO RGD:730890 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:12858 Huntington's disease ISO RGD:730890 D RGD:5688338|PMID:10441327 20120228 RGD protein:decreased expression:temporal cortex, neuron, nucleus (human) 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:1459 hypothyroidism IEP D RGD:2306463|PMID:11850121 20090417 RGD mRNA:altered expression:brain 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:2030 anxiety disorder IMP D RGD:5688287|PMID:20051490 20151119 RGD 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:730890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:289 endometriosis ISO RGD:730890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:3068 glioblastoma ISO RGD:730890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17312396 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:630 genetic disease ISO RGD:730890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730890 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:730890 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9004713 Acute-Phase Reaction IEP D RGD:10412679|PMID:20949361 20151119 RGD mRNA:decreased expression:liver 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730890 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:730890 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Developmental delay 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19781322 3612 Ncor1 nuclear receptor co-repressor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730890 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 3614 S100a1 S100 calcium binding protein A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3614 S100a1 S100 calcium binding protein A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3614 S100a1 S100 calcium binding protein A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3614 S100a1 S100 calcium binding protein A1 gene DOID:13100 intracranial vasospasm ISO RGD:1349517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 3614 S100a1 S100 calcium binding protein A1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349517 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3614 S100a1 S100 calcium binding protein A1 gene DOID:5812 MHC class II deficiency ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3614 S100a1 S100 calcium binding protein A1 gene DOID:630 genetic disease ISO RGD:1349517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3614 S100a1 S100 calcium binding protein A1 gene DOID:9003936 Cardiomegaly IDA D RGD:735233|PMID:12619862 19990101 RGD 3614 S100a1 S100 calcium binding protein A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349517 D RGD:1579977|PMID:10924368 19990101 RGD protein:increased expression:serum (human) 3614 S100a1 S100 calcium binding protein A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349517 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3615 S100b S100 calcium binding protein B gene DOID:0050073 invasive aspergillosis ISO RGD:11252 D RGD:5508765|PMID:21423669 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:0050847 sleep apnea IEP D RGD:5508790|PMID:20002528 20111021 RGD protein:increased expression:cerebral cortex, hippocampus, astrocyte 3615 S100b S100 calcium binding protein B gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737117 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 3615 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease IEP D RGD:5508780|PMID:20953641 20111021 RGD protein:decreased expression:cerebrospinal fluid 3615 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:11252 D RGD:5508775|PMID:21080947 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease severity ISO RGD:737117 D RGD:5508787|PMID:20105309 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease severity ISO RGD:737117 D RGD:5508798|PMID:19705461 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:10763 hypertension ISO RGD:737117 D RGD:5508770|PMID:21130083 20111021 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:11054 urinary bladder cancer IEP D RGD:2316906|PMID:17970044 20111025 RGD mRNA:increased expression:urinary bladder urothelium 3615 S100b S100 calcium binding protein B gene DOID:11088 asphyxia neonatorum ISO RGD:737117 D RGD:5508819|PMID:14707571 20111024 RGD protein:increased expression:urine 3615 S100b S100 calcium binding protein B gene DOID:11832 visual epilepsy IEP D RGD:5509052|PMID:15464860 20111027 RGD protein:increased expression:cerebrospinal fluid 3615 S100b S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:serum (human) 3615 S100b S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:5508781|PMID:20855493 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:12783 migraine without aura ISO RGD:737117 D RGD:5508769|PMID:21293918 20111021 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:12849 autistic disorder ISO RGD:737117 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3615 S100b S100 calcium binding protein B gene DOID:12930 dilated cardiomyopathy ISO RGD:737117 D RGD:2324684|PMID:18068619 20111025 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:13100 intracranial vasospasm ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 3615 S100b S100 calcium binding protein B gene DOID:13413 hepatic encephalopathy ISO RGD:737117 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34792689 3615 S100b S100 calcium binding protein B gene DOID:13564 aspergillosis ISO RGD:737117 D RGD:8695981|PMID:22114731 20140807 RGD DNA:SNP: :427C>T (human) 3615 S100b S100 calcium binding protein B gene DOID:14250 Down syndrome ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12888777 3615 S100b S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:11252 D RGD:5508763|PMID:21725169 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:737117 D RGD:5508766|PMID:21402140 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:1440 Machado-Joseph disease ISO RGD:737117 D RGD:5508762|PMID:21743141 20111021 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:1596 depressive disorder IEP D RGD:5508824|PMID:21843601 20111024 RGD protein:increased expression:hippocampus 3615 S100b S100 calcium binding protein B gene DOID:1790 malignant mesothelioma ISO RGD:737117 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 3615 S100b S100 calcium binding protein B gene DOID:1826 epilepsy IEP D RGD:5508766|PMID:21402140 20111021 RGD protein:increased expression:hippocampus 3615 S100b S100 calcium binding protein B gene DOID:2316 brain ischemia IEP D RGD:5508764|PMID:21695352 20111021 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:2366 West Nile fever ISO RGD:737117 D RGD:5508797|PMID:19790244 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737117 D RGD:5508822|PMID:12076997 20111024 RGD protein:increased expression:brain, cerebrospinal fluid 3615 S100b S100 calcium binding protein B gene DOID:3213 demyelinating disease IDA D RGD:5508823|PMID:21885671 20111024 RGD 3615 S100b S100 calcium binding protein B gene DOID:3312 bipolar disorder IEP D RGD:5508853|PMID:15581912 20111025 RGD protein:increased expression:cerebrospinal fluid 3615 S100b S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15581912|PMID:16476148 3615 S100b S100 calcium binding protein B gene DOID:4724 brain edema IEP D RGD:5508832|PMID:19147496 20111025 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 3615 S100b S100 calcium binding protein B gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:737117 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 3615 S100b S100 calcium binding protein B gene DOID:5154 borna disease IEP D RGD:5508841|PMID:17376896 20111025 RGD protein:decreased expression:cerebellum, cerebral cortex 3615 S100b S100 calcium binding protein B gene DOID:5419 schizophrenia ISO RGD:737117 D RGD:5508799|PMID:19539717 20111021 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:5419 schizophrenia susceptibility ISO RGD:737117 D RGD:14696780|PMID:15670788 20111021 RGD DNA:SNPs, haplotype:3' utr, cds:5748C>T, 2757C>G (rs9722, rs1051169) (human) 3615 S100b S100 calcium binding protein B gene DOID:5844 myocardial infarction IEP D RGD:2325647|PMID:19910580 20111025 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma 3615 S100b S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9788975 3615 S100b S100 calcium binding protein B gene DOID:630 genetic disease ISO RGD:737117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3615 S100b S100 calcium binding protein B gene DOID:8869 neuromyelitis optica ISO RGD:737117 D RGD:5508767|PMID:21371524 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:737117 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:serum (human) 3615 S100b S100 calcium binding protein B gene DOID:9000930 Dental Pulp Exposure IEP D RGD:5508788|PMID:20043976 20111021 RGD protein:increased expression:brain, astrocyte 3615 S100b S100 calcium binding protein B gene DOID:9000998 Brain Injuries ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11520488|PMID:21783483 3615 S100b S100 calcium binding protein B gene DOID:9000998 Brain Injuries severity ISO RGD:737117 D RGD:5508761|PMID:21976236 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737117 D RGD:5508825|PMID:21663912 20111024 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:9002407 Spinal Fractures ISO RGD:737117 D RGD:5508786|PMID:20304889 20111021 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 3615 S100b S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage disease_progression ISO RGD:737117 D RGD:5508801|PMID:19505208 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:155598592|PMID:29568675 20221017 RGD protein:increased expression:blood serum (human) 3615 S100b S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:5508819|PMID:14707571 20111024 RGD associated with Asphyxia Neonatorum;protein:increased expression:urine 3615 S100b S100 calcium binding protein B gene DOID:9004009 Reperfusion Injury IEP D RGD:5508834|PMID:18840784 20111025 RGD 3615 S100b S100 calcium binding protein B gene DOID:9004442 Diffuse Brain Injuries ISO RGD:737117 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 3615 S100b S100 calcium binding protein B gene DOID:9004484 Sepsis ISO RGD:737117 D RGD:5508796|PMID:19809934 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:737117 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 3615 S100b S100 calcium binding protein B gene DOID:9005372 Inflammation ISO RGD:737117 D RGD:5508779|PMID:21034449 20111021 RGD associated with Stroke 3615 S100b S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5508821|PMID:14583344 20111024 RGD protein:increased expression:cerebellum, cerebral cortex, hippocampus 3615 S100b S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5508836|PMID:18708122 20111025 RGD protein:altered expression:hippocampus, astrocyte 3615 S100b S100 calcium binding protein B gene DOID:9006013 Hematoma IEP D RGD:5508832|PMID:19147496 20111025 RGD associated with Stroke;protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 3615 S100b S100 calcium binding protein B gene DOID:9006024 Hypotension IEP D RGD:5508837|PMID:17944636 20111025 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:9006205 Animal Disease Models ISO RGD:737117 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:12888777|PMID:34792689 3615 S100b S100 calcium binding protein B gene DOID:9007096 Stroke severity IEP D RGD:5508838|PMID:17706250 20111025 RGD protein:increased expression:serum 3615 S100b S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:737117 D RGD:5508793|PMID:19959621 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:9007502 Brain Neoplasms ISO RGD:737117 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 3615 S100b S100 calcium binding protein B gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5508825|PMID:21663912 20111024 RGD mRNA, protein:increased expression:myocardium 3615 S100b S100 calcium binding protein B gene DOID:9008763 Femoral Fractures IEP D RGD:5509053|PMID:14504167 20111027 RGD protein:increased expression:blood 3615 S100b S100 calcium binding protein B gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:737117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25451971 3615 S100b S100 calcium binding protein B gene DOID:936 brain disease disease_progression ISO RGD:737117 D RGD:5508782|PMID:20847541 20111021 RGD 3615 S100b S100 calcium binding protein B gene DOID:9470 bacterial meningitis ISO RGD:737117 D RGD:5508818|PMID:15105355 20111024 RGD protein:increased expression:cerebrospinal fluid 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737617 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737617 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737617 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737617 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:10652 Alzheimer's disease ISO RGD:737617 D RGD:1642360|PMID:14746899 20070913 RGD 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:12849 autistic disorder ISO RGD:737617 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:1307 dementia ISO RGD:737617 D RGD:1642360|PMID:14746899 20070913 RGD associated with Parkinson Disease 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:630 genetic disease ISO RGD:737617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737617 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9007993 Dehydration IEP D RGD:1642352|PMID:17412804 20070913 RGD 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity IAGP D RGD:1642350|PMID:15012590 20070913 RGD 3617 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:737618 D RGD:1642351|PMID:11680901 20070913 RGD protein:increased expression:brainstem 3618 Vps52 VPS52 subunit of GARP complex gene DOID:0050553 JMP syndrome ISO RGD:1604402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3618 Vps52 VPS52 subunit of GARP complex gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1604402 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 3618 Vps52 VPS52 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1604402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3618 Vps52 VPS52 subunit of GARP complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 3619 Sag S-antigen visual arrestin gene DOID:0050534 congenital stationary night blindness ISO RGD:736449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670478 3619 Sag S-antigen visual arrestin gene DOID:0050795 cone dystrophy ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 3619 Sag S-antigen visual arrestin gene DOID:0060476 Perlman syndrome ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 3619 Sag S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:7240710 20140911 OMIM 3619 Sag S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 47 PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22665972|PMID:23591405|PMID:25268133|PMID:25741868|PMID:28492532|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 3619 Sag S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:7240710 20190306 OMIM 3619 Sag S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease-1 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22581970|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 3619 Sag S-antigen visual arrestin gene DOID:0110713 Oguchi disease-2 ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 3619 Sag S-antigen visual arrestin gene DOID:0110991 Joubert syndrome 22 ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 3619 Sag S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9565049 3619 Sag S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8547535|PMID:23701314 20140217 RGD 3619 Sag S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883 3619 Sag S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:17576681|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883|PMID:9536098 3619 Sag S-antigen visual arrestin gene DOID:13141 uveitis ISO RGD:736449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8407215 3619 Sag S-antigen visual arrestin gene DOID:630 genetic disease ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3619 Sag S-antigen visual arrestin gene DOID:8498 hereditary night blindness ISO RGD:736449 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7670478|PMID:9565049 3619 Sag S-antigen visual arrestin gene DOID:8498 hereditary night blindness ISO RGD:736449 D RGD:734491|PMID:7670478 19990101 RGD DNA:deletion:cds:p.N309fsX321 (human) 3619 Sag S-antigen visual arrestin gene DOID:8498 hereditary night blindness ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease | ClinVar Annotator: match by term: Stationary night blindness, Oguchi type PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:20981092|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22581970|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25268133|PMID:25741868|PMID:28492532|PMID:30267901|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 3619 Sag S-antigen visual arrestin gene DOID:8501 fundus dystrophy ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15234147|PMID:16199547|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:28549094|PMID:29305604|PMID:33047631|PMID:9452120 3619 Sag S-antigen visual arrestin gene DOID:9002289 Retinitis Pigmentosa 96 ISO RGD:736449 D RGD:7240710 20230215 OMIM 3623 Sbp spermine binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:11256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 3624 Atxn1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:7240710 20180725 OMIM 3624 Atxn1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 PMID:25741868 3624 Atxn1 ataxin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1344585 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 3624 Atxn1 ataxin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1344585 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 3624 Atxn1 ataxin 1 gene DOID:5419 schizophrenia ISO RGD:1344585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 3624 Atxn1 ataxin 1 gene DOID:5679 retinal disease ISO RGD:1344585 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 3624 Atxn1 ataxin 1 gene DOID:630 genetic disease ISO RGD:1344585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3624 Atxn1 ataxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344585 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868 3624 Atxn1 ataxin 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1344585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11719269|PMID:16122429|PMID:17322884|PMID:18337722 3625 Scamp1 secretory carrier membrane protein 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:731550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 3625 Scamp1 secretory carrier membrane protein 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:731550 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 3625 Scamp1 secretory carrier membrane protein 1 gene DOID:630 genetic disease ISO RGD:731550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3625 Scamp1 secretory carrier membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731550 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3626 Scg2 secretogranin II gene DOID:630 genetic disease ISO RGD:734327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3626 Scg2 secretogranin II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734327 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3627 Clec11a C-type lectin domain containing 11A gene DOID:11476 osteoporosis ISO RGD:1604062 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27976999 3627 Clec11a C-type lectin domain containing 11A gene DOID:13001 carotid stenosis ISO RGD:1604062 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 3627 Clec11a C-type lectin domain containing 11A gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1604062 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 3627 Clec11a C-type lectin domain containing 11A gene DOID:1790 malignant mesothelioma ISO RGD:1604062 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 3627 Clec11a C-type lectin domain containing 11A gene DOID:2355 anemia ISO RGD:1604062 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 3627 Clec11a C-type lectin domain containing 11A gene DOID:630 genetic disease ISO RGD:1604062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3628 Stmn3 stathmin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 3628 Stmn3 stathmin 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:69018 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 3628 Stmn3 stathmin 3 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:69018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 3628 Stmn3 stathmin 3 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 3628 Stmn3 stathmin 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:69018 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 3628 Stmn3 stathmin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 3628 Stmn3 stathmin 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 3628 Stmn3 stathmin 3 gene DOID:630 genetic disease ISO RGD:69018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3628 Stmn3 stathmin 3 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872634 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21270786|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25974703|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0060224 atrial fibrillation ISO RGD:1349086 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1349086 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0081075 Marsili syndrome ISO RGD:1349086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Impaired thermal sensitivity PMID:25741868|PMID:28492532|PMID:32581362 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:24998131|PMID:25053638|PMID:25085921|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:26733327|PMID:27711072|PMID:27884173|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29874177|PMID:30662450|PMID:32581362 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:7240710 20140911 OMIM 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2 PMID:17576681|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26733327|PMID:27711072|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29874177|PMID:29911575|PMID:30135145|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30821013|PMID:31195250|PMID:31780880|PMID:31928344|PMID:32581362|PMID:32917565|PMID:32948286|PMID:9536098 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:11446 sciatic neuropathy IMP D RGD:6484251|PMID:21965668 20120618 RGD 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:630 genetic disease ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16943940|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24998131|PMID:25053638|PMID:25301907|PMID:25437880|PMID:25741868|PMID:28078312|PMID:28106320|PMID:28492532 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia IMP D RGD:6484253|PMID:19070548 20120618 RGD 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:1349086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16545521 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:34385907|PMID:9536098 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9003163 Heart Block ISO RGD:1349086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9005968 Neuralgia ISO RGD:1349086 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1349086 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 3629 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9240 erythromelalgia ISO RGD:1349086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy PMID:25741868|PMID:28492532 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0050451 Brugada syndrome ISO RGD:1342640 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0050548 hereditary sensory neuropathy ISS RGD:735313 D RGD:13592920 20180518 MouseDO 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1342640 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers PMID:24207120|PMID:25741868 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:7240710 20140911 OMIM 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:16199547|PMID:17576681|PMID:24036948|PMID:24207120|PMID:24776970|PMID:25118027|PMID:25741868|PMID:25791876|PMID:26220970|PMID:26423924|PMID:26746779|PMID:27224030|PMID:27503742|PMID:27781142|PMID:28166811|PMID:28289907|PMID:28298626|PMID:28492532|PMID:29213238|PMID:29389947|PMID:29419974|PMID:30046661|PMID:30395542|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:9536098 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24776970|PMID:25741868|PMID:28492532 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:7240710 20140911 OMIM 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3 PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28298626|PMID:28492532|PMID:30046661|PMID:30554136|PMID:30557356 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28492532|PMID:29213238|PMID:30554136 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1342640 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:28492532|PMID:32581362 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:630 genetic disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28166811|PMID:28298626|PMID:28492532|PMID:29213238|PMID:30046661|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:9536098 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:9002211 Hyperalgesia ISO RGD:1342640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23264124 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1342640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036948 3630 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1342640 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22155597 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350483 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1350483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISS RGD:737154 D RGD:13592920 20180518 MouseDO OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:1350483 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:7240710 20190315 OMIM 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23148524|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:7240710 20130425 OMIM 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17576681|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22247482|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:22987075|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:24848745|PMID:24981977|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26042039|PMID:26129877|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27707468|PMID:27896052|PMID:28074886|PMID:28331474|PMID:28341588|PMID:28449774|PMID:28488083|PMID:28492532|PMID:28600387|PMID:28681755|PMID:28717674|PMID:28726809|PMID:28837624|PMID:29056246|PMID:29358611|PMID:29572929|PMID:29655203|PMID:29758173|PMID:29915715|PMID:29924869|PMID:29992740|PMID:30182498|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31729702|PMID:31737628|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32613771|PMID:32651551|PMID:33552729|PMID:33901312|PMID:5421039|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:7240710 20130221 OMIM 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32651551|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:10273 heart conduction disease ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:18464934 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:11832 visual epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25326637|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28837624|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1350483 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:25741868|PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:28837624|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532|PMID:28681755 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:2843 long QT syndrome ISO RGD:1350483 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15671291|PMID:19522081|PMID:23861362|PMID:24529773|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1350483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:630 genetic disease ISO RGD:1350483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12011299|PMID:19522081|PMID:24662403|PMID:25741868|PMID:28492532|PMID:29992740|PMID:31737628|PMID:9461582|PMID:9697698 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:24033266|PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1350483 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:22987075|PMID:23861362|PMID:28492532|PMID:28600387 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000543 Death ISO RGD:1350483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:19808477|PMID:24033266|PMID:24055113|PMID:25741868|PMID:27435932|PMID:28492532 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:7240710 20150617 OMIM 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1350483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22155597 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:1350483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 3631 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:6484255|PMID:22581745 20120618 RGD mRNA:increased expression:heart ventricle 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050562 West syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:18414213|PMID:19786696|PMID:20956790|PMID:23550958|PMID:23708187|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25741868|PMID:25772804|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27867041|PMID:28065826|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29186148|PMID:29655203|PMID:29844171|PMID:30185235|PMID:30361185|PMID:30776697|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783|PMID:34469436 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30619928|PMID:34782754 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1354096 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:26350204|PMID:28379373|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1621393 D RGD:13592920 20211104 MouseDO 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:11326335|PMID:15048894|PMID:17021166|PMID:18479388|PMID:23360469|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20956790|PMID:23550958|PMID:25741868|PMID:26283219|PMID:26467025|PMID:26645390|PMID:27159988|PMID:27334371|PMID:28065826|PMID:28379373|PMID:28492532|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:7240710 20130619 OMIM 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus PMID:11326335|PMID:11738931|PMID:12037327|PMID:15028761|PMID:15048894|PMID:15133511|PMID:16199547|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21439835|PMID:21692795|PMID:21719429|PMID:22029951|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25492405|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25937001|PMID:26068938|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28096396|PMID:28135719|PMID:28183995|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28947817|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29389947|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29844171|PMID:29852413|PMID:30109124|PMID:30165711|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31487502|PMID:31558572|PMID:31904120|PMID:31924505|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33278787|PMID:33818783|PMID:34055682|PMID:34156984|PMID:34469436|PMID:34782754|PMID:34894057|PMID:35431799|PMID:9536098 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080422 Dravet syndrome ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354096 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:23935176|PMID:25741868|PMID:26648591|PMID:26993267|PMID:27867041|PMID:28379373|PMID:28492532|PMID:32400968 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1354096 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:13207596|PMID:16417554 20170807 RGD DNA: missense mutation: exon 16 : p.N1001K 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:7240710 20130619 OMIM 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:11326335|PMID:11371648|PMID:11738931|PMID:12243921|PMID:12610651|PMID:15048894|PMID:15133511|PMID:15301839|PMID:15316014|PMID:16122630|PMID:16199547|PMID:16865694|PMID:16884893|PMID:17021166|PMID:17347258|PMID:17386050|PMID:17467289|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18379388|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20869590|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:22677033|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24659627|PMID:24848745|PMID:24876116|PMID:25131622|PMID:25156649|PMID:25232683|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25473036|PMID:25492405|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:25969726|PMID:25982755|PMID:26068938|PMID:26283219|PMID:26291284|PMID:2635020|PMID:26350204|PMID:26467025|PMID:26555645|PMID:26633542|PMID:26637798|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27153334|PMID:27159988|PMID:27290639|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27652284|PMID:27734276|PMID:27779742|PMID:27781028|PMID:27781031|PMID:27824329|PMID:27864847|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28133863|PMID:28135719|PMID:28166811|PMID:28191889|PMID:28254201|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28735751|PMID:28817111|PMID:28837158|PMID:28867142|PMID:28947817|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29314583|PMID:29358611|PMID:29429461|PMID:29625812|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29760947|PMID:29844171|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30185235|PMID:30314295|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31144778|PMID:31175295|PMID:31302675|PMID:31487502|PMID:31526516|PMID:31558572|PMID:31904120|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32603808|PMID:32613771|PMID:32651551|PMID:32695065|PMID:32725632|PMID:32750235|PMID:32860008|PMID:33000761|PMID:33004838|PMID:33084218|PMID:33240318|PMID:33278787|PMID:33394222|PMID:33779092|PMID:33818783|PMID:34015165|PMID:34055682|PMID:34469436|PMID:34782754|PMID:34894057|PMID:3508699|PMID:35431799|PMID:6660252|PMID:9536098 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0090056 dystonia 12 ISO RGD:1354096 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:1059 intellectual disability ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26993267|PMID:28379373|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:10969 hemiplegia ISO RGD:1354096 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Hemiplegia/hemiparesis PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:12849 autistic disorder ISO RGD:1354096 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:12849 autistic disorder ISO RGD:1354096 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Autism 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:14264 benign neonatal seizures ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy PMID:20371507|PMID:25741868|PMID:27779742|PMID:28379373|PMID:28492532|PMID:29100083|PMID:30619928|PMID:31904120|PMID:35431799 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:15048894|PMID:18479388|PMID:23935176|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:6660252 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28065826|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29358611|PMID:29655203|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30619928|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31904120|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:34782754|PMID:35431799 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:1826 epilepsy ISO RGD:1354096 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:16464983|PMID:23708187|PMID:29942082 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:1826 epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11326335|PMID:15048894|PMID:17021166|PMID:18414213|PMID:23360469|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:29844171|PMID:30859550|PMID:31558572|PMID:33818783 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:2234 focal epilepsy ISO RGD:1354096 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:3312 bipolar disorder ISO RGD:1354096 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:630 genetic disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371648|PMID:11738931|PMID:12037327|PMID:12620097|PMID:15048894|PMID:15301839|PMID:16122630|PMID:17576681|PMID:18414213|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20869590|PMID:20956790|PMID:21439835|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:23020937|PMID:23195492|PMID:23603762|PMID:23708187|PMID:23849776|PMID:23935176|PMID:24579881|PMID:24650168|PMID:25131622|PMID:25156649|PMID:25326637|PMID:25473036|PMID:25741868|PMID:25818041|PMID:25937001|PMID:26291284|PMID:26467025|PMID:26555645|PMID:26645390|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27328862|PMID:27353043|PMID:27824329|PMID:28087622|PMID:28096396|PMID:28183995|PMID:28191889|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28735751|PMID:28947817|PMID:29100083|PMID:29691040|PMID:29852413|PMID:30415926|PMID:30564305|PMID:30619928|PMID:31054490|PMID:31302675|PMID:32090326|PMID:32400968|PMID:33004838|PMID:34156984|PMID:34469436|PMID:9536098 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20956790|PMID:23550958|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27864847|PMID:28065826|PMID:28379373|PMID:28492532|PMID:29844171|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354096 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354096 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:7240710 20200722 OMIM 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Episodic ataxia, type 9 PMID:11326335|PMID:11371648|PMID:12243921|PMID:12620097|PMID:15028761|PMID:15048894|PMID:15301839|PMID:16199547|PMID:17021166|PMID:17467289|PMID:18379388|PMID:18414213|PMID:18479388|PMID:19783390|PMID:19786696|PMID:20371507|PMID:20869590|PMID:20956790|PMID:22677033|PMID:23360469|PMID:23550958|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28135719|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29655203|PMID:29691040|PMID:29844171|PMID:29852413|PMID:30144217|PMID:30165711|PMID:30185235|PMID:30361185|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30813884|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31558572|PMID:31904120|PMID:31924505|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33818783|PMID:34055682|PMID:34469436|PMID:3508699|PMID:35431799 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354096 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9007722 Myoclonus ISO RGD:1354096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myoclonus 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9007956 Febrile Seizures ISO RGD:1354096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25344690 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9007956 Febrile Seizures ISO RGD:1354096 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Febrile seizures | ClinVar Annotator: match by term: febrile convulsion PMID:25741868|PMID:28492532 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:32581362 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28379373|PMID:28492532|PMID:29655203|PMID:29852413|PMID:30564305 3632 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:963 episodic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:12037327|PMID:20956790|PMID:25326637|PMID:26993267|PMID:27353043 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0080690 RASopathy ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:736397 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:736397 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:1059 intellectual disability ISO RGD:736397 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:10754 otitis media IEP D RGD:6484586|PMID:12206256 20120626 RGD 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:11832 visual epilepsy IDA D RGD:2317305|PMID:9672387 20100326 RGD Scn2b mRNA levels in hippocampus respond to intraperitoneal kainate, which produces seizures 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:736397 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:630 genetic disease ISO RGD:736397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736397 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:7240710 20150701 OMIM 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:17556197|PMID:17576681|PMID:17623065|PMID:19808477|PMID:23559163|PMID:23861362|PMID:24144883|PMID:25741868|PMID:26220970|PMID:28202948|PMID:28341588|PMID:28492532|PMID:28597987|PMID:30662450|PMID:30821013|PMID:31110529|PMID:34320850|PMID:9536098 3633 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9007661 Dwarfism ISO RGD:736397 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:7240710 20190315 OMIM 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 | ClinVar Annotator: match by term: SCN3A-related neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30542205|PMID:30904718|PMID:32515017|PMID:34081427|PMID:9536098 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080918 polymicrogyria ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27153334|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736601 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25741868 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:1059 intellectual disability ISO RGD:736601 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:12382 complex partial epilepsy ISO RGD:736601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18242854 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:12712 nephronophthisis ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:1826 epilepsy ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:630 genetic disease ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051516|PMID:22787448|PMID:24157691|PMID:25741868|PMID:28492532|PMID:29466837|PMID:32515017 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2317320|PMID:16718433 20100326 RGD 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2317321|PMID:16109750 20100326 RGD 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9009166 Familial Focal Epilepsy, with Variable Foci 4 ISO RGD:736601 D RGD:7240710 20190315 OMIM 3635 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9009166 Familial Focal Epilepsy, with Variable Foci 4 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A- Related Disorder PMID:18242854|PMID:20420834|PMID:24157691|PMID:24157694|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0080100 congenital myopathy ISO RGD:732165 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:25741868 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:732165 D RGD:8554872 20200818 ClinVar ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age PMID:25326635|PMID:25741868 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081295 essential tremor 6 ISO RGD:732165 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 6 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:7240710 20140911 OMIM 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive PMID:10206477|PMID:10218481|PMID:11744749|PMID:12766226|PMID:12872329|PMID:12898257|PMID:1310898|PMID:14518676|PMID:14617673|PMID:15534250|PMID:15596759|PMID:15774523|PMID:15790667|PMID:17334961|PMID:17576681|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20981092|PMID:21220685|PMID:22653516|PMID:22926674|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24682880|PMID:25326635|PMID:25483584|PMID:25707578|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26659129|PMID:26700687|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28492532|PMID:29605429|PMID:29606556|PMID:29790872|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32533946|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33146414|PMID:33325393|PMID:35037686|PMID:7533571|PMID:7695243|PMID:7809121|PMID:8044656|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:732165 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18046642|PMID:20981092|PMID:25741868|PMID:28492532|PMID:7695243|PMID:9266738 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732165 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:7240710 20180425 OMIM 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita PMID:10206477|PMID:10218481|PMID:10227633|PMID:10369308|PMID:10727489|PMID:11744749|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:1310898|PMID:1316765|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15534250|PMID:15596759|PMID:15774523|PMID:15790667|PMID:16392038|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:17334961|PMID:17576681|PMID:17823953|PMID:17998485|PMID:18033047|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:19015483|PMID:19015492|PMID:19052238|PMID:19201608|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:21317558|PMID:21490317|PMID:21520339|PMID:22094069|PMID:22250216|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22926674|PMID:23417379|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24939454|PMID:25088311|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28492532|PMID:28779239|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30028520|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31127727|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8388676|PMID:8580427|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:10366610|PMID:11309455|PMID:12933953|PMID:15534250|PMID:15583983|PMID:15642860|PMID:1659948|PMID:16870577|PMID:17395131|PMID:18166706|PMID:19077043|PMID:2173143|PMID:22253644|PMID:23473731|PMID:25741868|PMID:26256659|PMID:26467025|PMID:28492532|PMID:28662944|PMID:30172468|PMID:30647473|PMID:30931713|PMID:34008892|PMID:7809121|PMID:8044656|PMID:8388676|PMID:8985730|PMID:9886942 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:10907 microcephaly ISO RGD:732165 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1659948 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:13208536|PMID:12933953 20170810 RGD DNA: missense mutation: exon 13 : p.T704M 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:7240710 20130221 OMIM 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10381583|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18203179|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29111379|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33965302|PMID:34008892|PMID:34378097|PMID:34418069|PMID:34608571|PMID:35037686|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048|PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11912116 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10206477|PMID:10218481|PMID:11744749|PMID:12872329|PMID:1310898|PMID:14518676|PMID:14617673|PMID:15790667|PMID:17334961|PMID:17576681|PMID:18166706|PMID:18337100|PMID:18337730|PMID:19770477|PMID:19840739|PMID:20445432|PMID:21220685|PMID:22653516|PMID:23589580|PMID:23771340|PMID:23810313|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26467025|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27922499|PMID:28325641|PMID:28492532|PMID:29391559|PMID:29790872|PMID:29946067|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32849172|PMID:7533571|PMID:7809121|PMID:8044656|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9392583|PMID:9536098 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:2106 myotonia congenita ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1316765 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:2234 focal epilepsy ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:11723275|PMID:1338909|PMID:20076800|PMID:22926674|PMID:25741868|PMID:26467025|PMID:28330959|PMID:28492532|PMID:32849172|PMID:34418069|PMID:7809121 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12766226 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:12766226|PMID:25741868|PMID:26659129|PMID:28492532 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:423 myopathy ISO RGD:732165 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:450 myotonic disease ISO RGD:732165 D RGD:11554173 20180501 CTD CTD Direct Evidence: marker/mechanism 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:450 myotonic disease ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita PMID:10682917|PMID:11744749|PMID:1338909|PMID:23771340|PMID:25741868|PMID:26467025|PMID:7980103|PMID:9618291|PMID:9660885 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:630 genetic disease ISO RGD:732165 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10851391|PMID:11723275|PMID:1338909|PMID:14557559|PMID:17898326|PMID:18337100|PMID:18337730|PMID:20076800|PMID:21221019|PMID:22926674|PMID:25454733|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26700687|PMID:26986070|PMID:27164696|PMID:28330959|PMID:28492532|PMID:29451154|PMID:29606556|PMID:32849172|PMID:34418069|PMID:7809121 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:732165 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:12562902|PMID:1316765|PMID:18166706|PMID:18337730|PMID:22507243|PMID:25741868|PMID:26467025|PMID:27415035|PMID:28492532|PMID:28779239|PMID:7676326|PMID:7809121|PMID:8005599|PMID:8110459 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:11268 D RGD:13208531|PMID:21881211 20170810 RGD DNA: missense mutation : exon : p.R663H 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:13208529|PMID:15645704 20170810 RGD DNA : missense mutation : exon : p.R672S 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:7240710 20130221 OMIM 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11558801|PMID:11591859|PMID:11744749|PMID:11912116|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:1659948|PMID:16624558|PMID:16870577|PMID:16890191|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17898326|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19770477|PMID:19840739|PMID:19882638|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21490317|PMID:21665951|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22253644|PMID:22253645|PMID:22653516|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24549961|PMID:25024265|PMID:25213595|PMID:25454733|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26467025|PMID:26834636|PMID:26986070|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28492532|PMID:28662944|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29790872|PMID:29991727|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33325393|PMID:34008892|PMID:7533571|PMID:7695243|PMID:7809121|PMID:7965854|PMID:8044656|PMID:8242056|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098|PMID:9771789|PMID:9886942 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16801039|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:18033047|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21665479|PMID:21665951|PMID:21708955|PMID:2173143|PMID:21841462|PMID:22253644|PMID:22253645|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23958773|PMID:24549961|PMID:24714718|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:26834636|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:29391559|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33146414|PMID:33263785|PMID:33325393|PMID:34008892|PMID:34418069|PMID:7473241|PMID:7533571|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9536098|PMID:9886942 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005532 Muscle Weakness ISO RGD:732165 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16832098 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:13208523|PMID:21664816 20170809 RGD DNA: missense mutation: exon : p.L1436P 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:7240710 20130221 OMIM 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:10206477|PMID:10218481|PMID:10682917|PMID:11744749|PMID:12562902|PMID:12872329|PMID:12898257|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14518676|PMID:14617673|PMID:15037716|PMID:15534250|PMID:15774523|PMID:15790667|PMID:16392038|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17334961|PMID:17576681|PMID:17823953|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:22094069|PMID:22507243|PMID:22653516|PMID:22759684|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:25088311|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26080010|PMID:26220970|PMID:26423924|PMID:26467025|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28150151|PMID:28325641|PMID:28492532|PMID:28779239|PMID:28877545|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30038349|PMID:30390395|PMID:30611854|PMID:30647473|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:3822145|PMID:7473241|PMID:7533571|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9336185|PMID:9392583|PMID:9536098|PMID:9618291|PMID:9660885|PMID:9771789 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9006585 Congenital Myopathy 22 ISO RGD:732165 D RGD:7240710 20230517 OMIM 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732165 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9007141 Normokalemic Periodic Paralysis, Potassium-Sensitive ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532|PMID:29606556 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:732165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:25741868|PMID:28492532 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9008993 Myotonia ISO RGD:732165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8308722 3636 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9008993 Myotonia ISO RGD:732165 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:26467025|PMID:27922499|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33573884 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731255 D RGD:11352402|PMID:23178689 20180510 RGD protein:altered expression:ventricle 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10973849|PMID:11222472|PMID:12354768|PMID:12820704|PMID:14523039|PMID:15466642|PMID:15840476|PMID:15840483|PMID:15851227|PMID:16325048|PMID:16414944|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18361072|PMID:18452873|PMID:19412328|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20539757|PMID:20875080|PMID:22373669|PMID:22378279|PMID:22557970|PMID:22581653|PMID:23008441|PMID:23098067|PMID:23503384|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24653702|PMID:25163546|PMID:25351510|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26209461|PMID:26467025|PMID:26633542|PMID:26749013|PMID:27041150|PMID:27287068|PMID:28069705|PMID:28265756|PMID:28492532|PMID:28600387|PMID:28781330|PMID:29032884|PMID:29574140|PMID:30084490|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32048431|PMID:32323320|PMID:33535892|PMID:34755423 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:10662748|PMID:12687841|PMID:15520322|PMID:16144991|PMID:16239976|PMID:16945804|PMID:17728436|PMID:17805561|PMID:18507554|PMID:18599870|PMID:19140927|PMID:19875396|PMID:20174578|PMID:20513597|PMID:23872634|PMID:30232268 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29402340|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30758498|PMID:30828344|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31477192|PMID:31568572|PMID:31680123|PMID:31694554|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32161207|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33535892|PMID:33712541|PMID:34008892|PMID:35535697|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:10200053|PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11420310|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12741714|PMID:12820704|PMID:12845244|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14625171|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15057319|PMID:15120823|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15485686|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851320|PMID:15851440|PMID:15877619|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16038262|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16266370|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16426410|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16616735|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:16945804|PMID:16980337|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17198989|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17445919|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18065446|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18341814|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18551308|PMID:18596570|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18929244|PMID:18929331|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19336922|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20025708|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:2012928|PMID:20129283|PMID:20137763|PMID:20339501|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34048814|PMID:34092119|PMID:34122134|PMID:34127479|PMID:34135346 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:36220970|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050700 cardiomyopathy ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:10961955|PMID:10966831|PMID:11710892|PMID:11823453|PMID:11901046|PMID:12193783|PMID:12471205|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14967853|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16155735|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17587741|PMID:17605181|PMID:17892895|PMID:17905336|PMID:17967976|PMID:18071069|PMID:18245395|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18456723|PMID:18976777|PMID:19026623|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19716085|PMID:19799913|PMID:19841298|PMID:19841300|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20636320|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21621375|PMID:21622575|PMID:22378279|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22984773|PMID:22995991|PMID:23091201|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24400668|PMID:24606995|PMID:24613995|PMID:24681144|PMID:24736382|PMID:24784157|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26131924|PMID:26159999|PMID:26213684|PMID:26467025|PMID:26746457|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28087566|PMID:28301460|PMID:28359509|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28589536|PMID:28638671|PMID:28831623|PMID:28988457|PMID:29431662|PMID:29449963|PMID:29672598|PMID:29728395|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30364184|PMID:30419068|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31737537|PMID:31983221|PMID:32470535|PMID:32533946|PMID:32893267|PMID:33221895|PMID:33258288|PMID:35663620|PMID:8661019|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050820 atrioventricular block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV block PMID:11804990|PMID:15671429|PMID:18048769|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060224 atrial fibrillation ISO RGD:731255 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:30061737 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060224 atrial fibrillation ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18088563|PMID:18378609|PMID:18426444|PMID:18929244|PMID:19026623|PMID:19167345|PMID:19716085|PMID:19808477|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21143119|PMID:21167004|PMID:21321465|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24631775|PMID:24784157|PMID:25410959|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26467025|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28341781|PMID:28492532|PMID:29247119|PMID:29449639|PMID:29709244|PMID:30086531|PMID:30193851|PMID:30847666|PMID:31231243|PMID:32048431|PMID:33712541|PMID:34019817|PMID:34758253|PMID:36129056 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060319 cardiac arrest ISO RGD:731255 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060480 left ventricular noncompaction ISO RGD:731255 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:12193783|PMID:12471205|PMID:14500339|PMID:15161528|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16453014|PMID:16453024|PMID:16731473|PMID:16922724|PMID:17185997|PMID:17275750|PMID:17892895|PMID:17967976|PMID:18362431|PMID:18378609|PMID:18452875|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:22581653|PMID:22984773|PMID:23091201|PMID:23861362|PMID:24033266|PMID:24332150|PMID:24951663|PMID:25065297|PMID:25741868|PMID:25757662|PMID:25923670|PMID:26467025|PMID:28492532|PMID:29431662|PMID:30364184 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:731255 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10690282|PMID:10727653|PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19251209|PMID:19412328|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20486126|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:22840528|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24529773|PMID:24573164|PMID:24784157|PMID:24795344|PMID:24915601|PMID:25051102|PMID:25172307|PMID:25650408|PMID:25741868|PMID:25748040|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:27281089|PMID:27554632|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:28798025|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30419068|PMID:31333075|PMID:31568572|PMID:32048431|PMID:8661019 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0080662 atrial standstill 1 ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial standstill 1, digenic PMID:12522116|PMID:15466643|PMID:15671429|PMID:15998690|PMID:16188595|PMID:16684018|PMID:19251209|PMID:19716085|PMID:20129283|PMID:20384651|PMID:20539757|PMID:21596231|PMID:21824921|PMID:22247482|PMID:22581653|PMID:23791817|PMID:24136861|PMID:24573164|PMID:24762805|PMID:25741868|PMID:25904541|PMID:26111534|PMID:28492532|PMID:28637969|PMID:33131149|PMID:3953067 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:7240710 20180802 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:10377081|PMID:10508990|PMID:10532948|PMID:10590249|PMID:10618304|PMID:10690282|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:17081365|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22028457|PMID:22090166|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23714088|PMID:23785128|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25410959|PMID:25467552|PMID:25554238|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28638671|PMID:28704380|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30244407|PMID:30246897|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31191357|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34930020|PMID:34935411|PMID:35284542|PMID:35663620|PMID:35727495|PMID:36129056|PMID:36197721|PMID:36220970|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19841300|PMID:20129283|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24784157|PMID:25051102|PMID:25741868|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30419068|PMID:32048431|PMID:8661019 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:7240710 20130425 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30291343|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:3953067|PMID:8661019|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11901046|PMID:12106943|PMID:14523039|PMID:15671429|PMID:15851227|PMID:15890323|PMID:16643399|PMID:16712702|PMID:17368591|PMID:19251209|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:21596231|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22789973|PMID:22885917|PMID:22899775|PMID:23321620|PMID:23414114|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24613995|PMID:24762805|PMID:24784157|PMID:25171853|PMID:25351510|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:26467025|PMID:26636822|PMID:26743238|PMID:26746457|PMID:26884609|PMID:27000522|PMID:27066507|PMID:27332903|PMID:28482396|PMID:28492532|PMID:30662450|PMID:31043699|PMID:31337358|PMID:31737537|PMID:32048431|PMID:32880476|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18929331|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25210526|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28494446|PMID:28567303|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29579189|PMID:29606593 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110645 long QT syndrome 2 ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:18378609|PMID:21321465|PMID:22581653|PMID:22685113|PMID:25741868|PMID:28202948|PMID:28492532|PMID:32048431|PMID:36129056 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:11554173 20180327 CTD CTD Direct Evidence: marker/mechanism PMID:17805561 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:7240710 20130425 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10590249|PMID:10618304|PMID:10727653|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11410597|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14654377|PMID:14687250|PMID:14736542|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:24218437|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26888838|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29956481|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31776209|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33712541|PMID:34008892|PMID:34019817|PMID:34122134|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35535697|PMID:36129056|PMID:36197721|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 treatment ISO RGD:731255 D RGD:13831293|PMID:30566038 20181220 RGD DNA:mutations:cds: 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:7240710 20130221 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731255 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:10273 heart conduction disease ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:10532948|PMID:10618304|PMID:11029409|PMID:11123251|PMID:11234013|PMID:11748104|PMID:11827685|PMID:12569159|PMID:12574143|PMID:14523039|PMID:15520322|PMID:16922724|PMID:18065446|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20025708|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20539757|PMID:20564468|PMID:21552533|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:27554632|PMID:28449774|PMID:28492532|PMID:28739862|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32383558|PMID:32533946|PMID:32746448|PMID:32850980|PMID:33131149|PMID:34539730|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:10969 hemiplegia ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10807545|PMID:15689442|PMID:15851227|PMID:16155735|PMID:17227473|PMID:18426444|PMID:19841300|PMID:20129283|PMID:21321465|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24463578|PMID:24721456|PMID:25741868|PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:31333075|PMID:31568572|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31568572|PMID:32533946|PMID:33221895|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:32533946|PMID:33084224|PMID:33221895|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:9521325 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:13884 sick sinus syndrome ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease PMID:10377081|PMID:10727653|PMID:10961955|PMID:10973849|PMID:11901046|PMID:12877697|PMID:14523039|PMID:15840476|PMID:16379539|PMID:16453024|PMID:18451998|PMID:18452873|PMID:18508782|PMID:19716085|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21321465|PMID:22090166|PMID:22370247|PMID:22581653|PMID:22789973|PMID:23631430|PMID:24033266|PMID:24762805|PMID:24784157|PMID:24871449|PMID:25741868|PMID:26125038|PMID:26467025|PMID:27381756|PMID:28492532|PMID:28781849|PMID:29806494|PMID:30385166|PMID:31447099|PMID:31737537|PMID:32096284 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:13884 sick sinus syndrome ISS RGD:731255 D RGD:13592920 20180518 MouseDO OMIM:163800 | OMIM:608567 | OMIM:614090 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2316 brain ischemia IEP D RGD:6484225|PMID:19471098 19990101 RGD 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10627139|PMID:12208804|PMID:12796143|PMID:14510655|PMID:16301357|PMID:17110414|PMID:19140927|PMID:20513597 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:1580502|PMID:15840476 19990101 RGD 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31737537|PMID:31866066|PMID:31983221|PMID:32009526|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33535892|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17088455|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10200053|PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34219138|PMID:34426522|PMID:34758253|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18752142|PMID:18752973|PMID:22581653|PMID:25326637|PMID:25741868|PMID:25904541|PMID:28492532|PMID:30662450|PMID:32233023 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:6000 congestive heart failure IEP D RGD:6484224|PMID:19584134 19990101 RGD mRNA:decreased expression:ventricle myocardium 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:630 genetic disease ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10471492|PMID:10940383|PMID:11710892|PMID:11901046|PMID:12736279|PMID:14523039|PMID:15655131|PMID:15840476|PMID:16453024|PMID:16684018|PMID:17210839|PMID:18378609|PMID:19251209|PMID:20100972|PMID:20129283|PMID:22581653|PMID:22766342|PMID:22840528|PMID:22999724|PMID:24631775|PMID:24768612|PMID:25274057|PMID:25741868|PMID:25904541|PMID:26173111|PMID:26820365|PMID:28104484|PMID:28492532|PMID:29574140|PMID:30847666|PMID:31776209|PMID:32893267|PMID:33221895|PMID:34930020|PMID:9753711 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:6364 migraine ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000060 Cardiac Conduction Defect, Nonspecific ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific PMID:11748104|PMID:12574143|PMID:14523039|PMID:16922724|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20539757|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:28449774|PMID:28492532|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32533946|PMID:32746448|PMID:32850980|PMID:33131149|PMID:34539730 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26801742|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30419068|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31534214|PMID:31568572|PMID:31680123|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32153684|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33712541|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30828412 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34219138|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:35535697|PMID:35663620|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27108952|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34135346|PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731255 D RGD:735235|PMID:11786529 19990101 RGD 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10940383|PMID:11827685|PMID:14961552|PMID:15266024|PMID:17141278|PMID:17675083|PMID:17993325|PMID:19026623|PMID:22247482|PMID:22581653|PMID:23139254|PMID:24190697|PMID:25326637|PMID:25741868|PMID:26798387|PMID:28492532|PMID:30609406|PMID:33221895 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:731255 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000543 Death ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:11997281|PMID:14760488|PMID:15840476|PMID:18071069|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:22378279|PMID:22581653|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24713084|PMID:25637381|PMID:25650408|PMID:25741868|PMID:26669661|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28798025|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30193851|PMID:31262209|PMID:31737537|PMID:32516855 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000727 Syncope ISO RGD:731255 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9001436 Immunodeficiency 68 ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:34426522 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:22685113|PMID:23396983|PMID:23861362|PMID:24606995|PMID:25741868|PMID:28492532|PMID:28988457|PMID:29728395 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:12574983|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:16922724|PMID:19167409|PMID:19716085|PMID:19841300|PMID:19863579|PMID:20090423|PMID:20129283|PMID:22360817|PMID:22581653|PMID:24218437|PMID:25904541|PMID:28492532|PMID:9495298|PMID:9506831 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28567303|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34122134|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003163 Heart Block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:34426522 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003450 Nonprogressive Heart Block ISO RGD:731255 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Heart block, nonprogressive PMID:10471492 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:7240710 20130221 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34426522|PMID:34539730|PMID:34930020|PMID:8661019|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:731255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:16453024|PMID:20110800|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18929331|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25210526|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28494446|PMID:28567303|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29579189|PMID:29606593 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30690642|PMID:30755392|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34758253|PMID:35052356|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18848812 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18378609|PMID:18426444|PMID:19027780|PMID:19412328|PMID:19632629|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21167004|PMID:21705349|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22840528|PMID:22995991|PMID:23299917|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24667783|PMID:24721456|PMID:24721642|PMID:25554238|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26406308|PMID:26467025|PMID:26743238|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27711072|PMID:28087566|PMID:28341781|PMID:28492532|PMID:31043699|PMID:31918855 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9005444 Torsades de Pointes ISO RGD:731255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12208804|PMID:16301357 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9005444 Torsades de Pointes ISO RGD:731255 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:25741868|PMID:28492532|PMID:30079003 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9006030 Infant Death ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11901046|PMID:11997281|PMID:14753626|PMID:14760488|PMID:15840476|PMID:18071069|PMID:18708744|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:21167176|PMID:22378279|PMID:22426227|PMID:22581653|PMID:22840528|PMID:22984773|PMID:23414114|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24631775|PMID:24713084|PMID:24721456|PMID:24892747|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26538325|PMID:26669661|PMID:26746457|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28794082|PMID:28798025|PMID:28988457|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30153324|PMID:30193851|PMID:30847666|PMID:31262209|PMID:31737537|PMID:32516855|PMID:34021086 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9006508 Cardiac Conduction Defect, Nonprogressive ISO RGD:731255 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive PMID:11234013|PMID:19251209|PMID:22581653 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:7240710 20230505 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15485686|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18596570|PMID:18809926|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20038812|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31191357|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32161207|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32893267|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:731255 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007820 Sudden Death ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:17210839|PMID:17210841|PMID:19716085|PMID:20129283|PMID:22581653|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:32533946 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007925 Sudden Cardiac Death ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:15851227|PMID:16712702|PMID:18378609|PMID:18508782|PMID:19564561|PMID:19841300|PMID:19862833|PMID:20102864|PMID:20129283|PMID:22581653|PMID:22984773|PMID:23631430|PMID:23671135|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26746457|PMID:27000522|PMID:28492532|PMID:30254039|PMID:30662450|PMID:32533946|PMID:32746448|PMID:32880476|PMID:33131149|PMID:33221895|PMID:34620408 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:7240710 20140903 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:10711933|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11076825|PMID:11123251|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28438721 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29915097|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34930020|PMID:34935411|PMID:36129056|PMID:3953067|PMID:8661019|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:7240710 20170405 OMIM 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:731255 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238 3637 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050562 West syndrome ISO RGD:1351349 D RGD:8554872 20180605 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31618753|PMID:31625145|PMID:32651551|PMID:32920374|PMID:9536098 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISS RGD:1351349 D RGD:13592920 20180518 MouseDO OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050753 cerebellar ataxia ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16236810 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050753 cerebellar ataxia ISO RGD:1351349 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050952 spastic ataxia ISO RGD:1351349 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:7240710 20140911 OMIM 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 PMID:12374766|PMID:15525788|PMID:15800189|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:23708187|PMID:23934111|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235738|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26677014|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27779742|PMID:27864847|PMID:27875746|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28708303|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29263050|PMID:29588952|PMID:29655203|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31680123|PMID:31780880|PMID:31904124|PMID:32581362|PMID:32901917|PMID:32916281|PMID:33201365|PMID:35599849|PMID:9536098 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351349 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:7240710 20190315 OMIM 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 PMID:12374766|PMID:17576681|PMID:17881658|PMID:18414213|PMID:22365152|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25741868|PMID:25785782|PMID:25951352|PMID:26029160|PMID:26235739|PMID:26467025|PMID:26677014|PMID:26900580|PMID:27210545|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28923014|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31675620|PMID:9536098 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351349 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16236810 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:11832 visual epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26993267|PMID:28492532|PMID:29432985|PMID:31625145|PMID:32581362 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:12849 autistic disorder ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1824 status epilepticus ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:23708187|PMID:29942082 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26677014|PMID:26993267|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30615093|PMID:31625145 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24888894|PMID:25741868|PMID:26677014|PMID:26993267|PMID:27210545|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31625145|PMID:32581362 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:2234 focal epilepsy ISO RGD:1351349 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:18414213|PMID:25741868|PMID:27210545|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:3327 partial motor epilepsy ISO RGD:1351349 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:3652 Leigh disease ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:6000 congestive heart failure IEP D RGD:6484224|PMID:19584134 20120614 RGD mRNA:increased expression:ventricle myocardium 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:630 genetic disease ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10798388|PMID:12374766|PMID:15525788|PMID:15800189|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26467025|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29356177|PMID:29588952|PMID:29720203|PMID:29924869|PMID:29933521|PMID:30171078|PMID:31026061|PMID:31054490|PMID:31887642|PMID:32040247|PMID:32651551|PMID:33004838|PMID:33201365|PMID:34431999 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1351349 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:863 nervous system disease ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15170223 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9000495 Tremor ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24888894|PMID:25568300|PMID:25741868|PMID:25951352|PMID:26029160|PMID:26900580|PMID:27864847|PMID:27900360|PMID:28492532|PMID:28923014|PMID:30109124|PMID:30171078|PMID:30615093 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9002704 Leukoencephalopathies ISO RGD:1351349 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9002834 Herpesviridae Infections ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:7240710 20190501 OMIM 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 2 PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:29726066 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351349 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351349 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9004866 Ataxia ISO RGD:1351349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9007 sudden infant death syndrome ISO RGD:1351349 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9007956 Febrile Seizures ISO RGD:1351349 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25725044|PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124|PMID:31625145|PMID:32581362 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:7240710 20140911 OMIM 3638 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:12374766|PMID:16236810|PMID:17881658|PMID:22365152|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25785782|PMID:26235739|PMID:26467025|PMID:26993267|PMID:27659738|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30868116|PMID:30968951|PMID:31618753|PMID:31780880|PMID:33201365|PMID:33851778 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0050477 Liddle syndrome ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736324 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10510337|PMID:10523338|PMID:10586178|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:28710092|PMID:8589714 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080526 bronchiectasis 1 ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:7240710 20130221 OMIM 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis PMID:10403853|PMID:10510337|PMID:10523338|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:23392097|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:8589714|PMID:9654209 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736324 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:736324 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:25741868 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0111621 Temtamy syndrome ISO RGD:736324 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:736324 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16555725 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:10763 hypertension ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11752024|PMID:23348737 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:1184 nephrotic syndrome IAGP D RGD:1624161|PMID:15075188 20070503 RGD 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:1485 cystic fibrosis ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:2935 Chediak-Higashi syndrome ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:2987 familial Mediterranean fever ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:4479 pseudohypoaldosteronism ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11752024 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:4479 pseudohypoaldosteronism ISO RGD:736324 D RGD:1624117|PMID:8589714 20070502 RGD PHA type I,OMIM:264350;DNA:frameshift, DNA:point mutation:exon:R508X 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:4479 pseudohypoaldosteronism ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism PMID:25741868 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:576 proteinuria ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11752024 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:630 genetic disease ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:769 neuroblastoma disease_progression ISO RGD:736324 D RGD:5509791|PMID:21314941 20111103 RGD Low levels of methylation correlate with improved survival 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:850 lung disease ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9001276 Failure to Thrive ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive ISO RGD:736324 D RGD:7240710 20221207 OMIM 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9007096 Stroke ISO RGD:736324 D RGD:5509790|PMID:15734793 20111103 RGD 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736324 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:7240710 20190315 OMIM 3639 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liddle syndrome 3 PMID:10523338|PMID:1506904|PMID:21889619|PMID:23149595|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28710092 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:737753|PMID:10589691 19990101 RGD 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:734263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18398334|PMID:19344079 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:734263 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:734263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10523338|PMID:11439319|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26467025|PMID:28492532|PMID:29580127|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISS RGD:11272 D RGD:13592920 20221208 MouseDO OMIM:264350 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:734263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:7240710 20130221 OMIM 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27582106|PMID:27896928|PMID:27900368|PMID:28492532|PMID:28915228|PMID:29580127|PMID:34076240|PMID:7777572|PMID:7954808|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:734263 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:25741868 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:10763 hypertension ISO RGD:734263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15174897|PMID:15198480|PMID:19344079 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:1184 nephrotic syndrome IAGP D RGD:1624161|PMID:15075188 20070503 RGD 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:1485 cystic fibrosis ISO RGD:734263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16207733|PMID:16463024 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:2320 obstructive lung disease ISO RGD:734263 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:4479 pseudohypoaldosteronism ISO RGD:734263 D RGD:1624117|PMID:8589714 20070502 RGD PHA type I,OMIM:264350;DNA:point mutation:exon:G37S 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:5419 schizophrenia ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:630 genetic disease ISO RGD:734263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:850 lung disease ISO RGD:734263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16207733 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:7240710 20221214 OMIM 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive PMID:21504729|PMID:8589714|PMID:9118951 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:734263 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:7240710 20190320 OMIM 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15483078|PMID:15661075|PMID:16207733|PMID:18398334|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:21525970|PMID:22809657|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25210634|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27896928|PMID:27900368|PMID:28236585|PMID:28492532|PMID:28915228|PMID:29580127|PMID:7777572|PMID:7954808|PMID:8524790|PMID:8589714|PMID:8601645|PMID:9100575|PMID:9118951|PMID:9350583|PMID:9576123|PMID:9626162|PMID:9674649 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9008622 Adrenal Insufficiency ISO RGD:734263 D RGD:1624136|PMID:7954808 20070502 RGD Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X 3640 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9675 pulmonary emphysema ISO RGD:734263 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0050477 Liddle syndrome ISO RGD:732847 D RGD:737754|PMID:7550319 20070502 RGD DNA:nonsense mutation:exon:p.W574X (human) 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060041 autism spectrum disorder ISO RGD:732847 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive PMID:10391210|PMID:11231969|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:8640238 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISS RGD:732848 D RGD:13592920 20221208 MouseDO OMIM:264350 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:7240710 20130221 OMIM 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 PMID:10391210|PMID:12473862|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:10763 hypertension ISO RGD:732847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15198480 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:732847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:2661 myoepithelioma ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8640238 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:1624147|PMID:8640238 20070502 RGD PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:630 genetic disease ISO RGD:732847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9005031 Liddle Syndrome 1 ISO RGD:732847 D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9006024 Hypotension ISO RGD:732847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11463765 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:7240710 20230308 OMIM 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive PMID:11231969|PMID:8640238 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:7240710 20190315 OMIM 3641 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 2 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18507830|PMID:19462466|PMID:20376790|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:7550319 3642 Scp2 sterol carrier protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:33713422 3642 Scp2 sterol carrier protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733061 D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:25741868 3642 Scp2 sterol carrier protein 2 gene DOID:1389 polyneuropathy ISO RGD:733061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 3642 Scp2 sterol carrier protein 2 gene DOID:543 dystonia ISO RGD:733061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 3642 Scp2 sterol carrier protein 2 gene DOID:630 genetic disease ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3642 Scp2 sterol carrier protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:733061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 3642 Scp2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:7240710 20130221 OMIM 3642 Scp2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency PMID:16199547|PMID:16685654|PMID:25741868|PMID:26497993|PMID:28492532|PMID:33098801 3642 Scp2 sterol carrier protein 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9850252|PMID:7628371 20150401 RGD 3642 Scp2 sterol carrier protein 2 gene DOID:905 Zellweger syndrome ISO RGD:733061 D RGD:13782196|PMID:3555624 20180828 RGD 3643 Sct secretin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 3643 Sct secretin gene DOID:0050729 neutral lipid storage disease ISO RGD:735506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 3643 Sct secretin gene DOID:0080773 delta beta-thalassemia ISO RGD:735506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 3643 Sct secretin gene DOID:0111969 immunodeficiency 39 ISO RGD:735506 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 3643 Sct secretin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 3643 Sct secretin gene DOID:11612 polycystic ovary syndrome ISO RGD:735506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 3643 Sct secretin gene DOID:12849 autistic disorder ISO RGD:735506 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12732234|PMID:15206007|PMID:15272612|PMID:16168596 3643 Sct secretin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735506 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 3643 Sct secretin gene DOID:630 genetic disease ISO RGD:735506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3643 Sct secretin gene DOID:899 choledochal cyst ISO RGD:735506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 3643 Sct secretin gene DOID:9002554 Tachycardia ISO RGD:735506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2103752 3643 Sct secretin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735506 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:0060496 respiratory allergy ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:0060500 drug allergy ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1351854 D RGD:7248412|PMID:9892814 20130731 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:10247 pleurisy IMP D RGD:4145479|PMID:11564646 20101105 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:10247 pleurisy ISO RGD:1551429 D RGD:4145443|PMID:11877329 20101104 RGD protein:increased expression:pleural fluid 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:10533 viral pneumonia ISO RGD:1351854 D RGD:4140459|PMID:20644177 20101102 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:1063 interstitial nephritis ISO RGD:1351854 D RGD:7247743|PMID:21952467 20130730 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:11204 allergic conjunctivitis IEP D RGD:2307196|PMID:12682842 20090520 RGD mRNA:increased expression:conjunctiva 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:1205 allergic disease ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1551429 D RGD:4145447|PMID:10955955 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1351854 D RGD:7247741|PMID:22176730 20130730 RGD protein:decreased expression:plasma 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:1551429 D RGD:7247740|PMID:22427838 20130730 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:14654 prostatitis IEP D RGD:4145481|PMID:10861753 20101105 RGD mRNA:increased expression:prostate gland dorsolateral lobe 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:1485 cystic fibrosis ISO RGD:1351854 D RGD:4145455|PMID:17999785 20101104 RGD protein:increased expression:paranasal sinus 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2316 brain ischemia ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma IEP D RGD:4145461|PMID:17074272 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1351854 D RGD:5130930|PMID:16304252 20110414 RGD protein:increased expression:plasma 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1351854 D RGD:7240710 20230505 OMIM 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1551429 D RGD:4145392|PMID:18250471 20101102 RGD mRNA:increased expression:lung 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1551429 D RGD:4145451|PMID:9034156 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma ISO RGD:1551429 D RGD:4891485|PMID:17060636 20110117 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma severity ISO RGD:1351854 D RGD:4145387|PMID:20704746 20101102 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma susceptibility ISO RGD:1351854 D RGD:4145457|PMID:17845580 20101104 RGD DNA:polymorphism: :p.A23T (human) 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2841 asthma treatment IDA D RGD:7248416|PMID:22932891 20130731 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:289 endometriosis IEP D RGD:2307108|PMID:18595729 20101105 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:289 endometriosis ISO RGD:1351854 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2942 bronchiolitis ISO RGD:1351854 D RGD:4145460|PMID:17297249 20101104 RGD protein:increased expression:nasal mucus 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:2942 bronchiolitis severity ISO RGD:1551429 D RGD:4145415|PMID:15681407 20101103 RGD associated with Respiratory Syncytial Virus Infections 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:3021 acute kidney failure ISO RGD:1551429 D RGD:7247739|PMID:22778179 20130730 RGD protein:increased expression:kidney 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1351854 D RGD:4145389|PMID:19925666 20101102 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:3310 atopic dermatitis ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:3770 pulmonary fibrosis ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16314464|PMID:17620002 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:3770 pulmonary fibrosis ISO RGD:1351854 D RGD:4145458|PMID:17620002 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:3770 pulmonary fibrosis ISO RGD:1551429 D RGD:4145395|PMID:16314464 20101102 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:4195 hyperglycemia ISO RGD:1351854 D RGD:7248408|PMID:20841614 20130731 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:urine 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:4195 hyperglycemia treatment ISO RGD:1351854 D RGD:7248413|PMID:23893332 20130731 RGD associated with Diabetes Mellitus, Type 1 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:4481 allergic rhinitis treatment IDA D RGD:7248414|PMID:23089405 20130731 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:4483 rhinitis IEP D RGD:4145462|PMID:16765544 20101104 RGD mRNA:increased expression:lung, nose 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:4483 rhinitis ISO RGD:1351854 D RGD:4145455|PMID:17999785 20101104 RGD associated with Sinusitis;protein:increased expression:paranasal sinus 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:4483 rhinitis severity ISO RGD:1351854 D RGD:4145411|PMID:16120080 20101103 RGD protein:increased expression:nasal mucus 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:5199 ureteral obstruction ISO RGD:1351854 D RGD:7248411|PMID:15673311 20130731 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:14995461|PMID:27246604 20191025 RGD protein:increased expression:plasma 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:7240710 20230505 OMIM 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351854 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:14571188 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:552 pneumonia IEP D RGD:4145445|PMID:11290805 20101104 RGD mRNA, protein:increased expression:lung, respiratory system fluid/secretion 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:552 pneumonia IMP D RGD:4145450|PMID:10595930 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:552 pneumonia ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:630 genetic disease ISO RGD:1351854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:83 cataract IEP D RGD:7248415|PMID:23049540 20130731 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9000350 Toxocara Canis Infection (Canine Roundworms) ISO RGD:1551429 D RGD:7248410|PMID:16168564 20130731 RGD protein:increased expression:plasma, respiratory system fluid/secretion 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9000386 Polyomavirus Infections ISO RGD:1351854 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1551429 D RGD:4145432|PMID:15236177 20101103 RGD associated with Gastrointestinal Diseases 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9000784 Fibrosis IEP D RGD:4145471|PMID:20832583 20101105 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9001371 Eosinophilia ISO RGD:1351854 D RGD:4891487|PMID:19296494 20110117 RGD associated with Sinusitis 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9001472 Nasal Polyps ISO RGD:1351854 D RGD:4145448|PMID:10415058 20101104 RGD mRNA:increased expression:nasal cavity epithelium 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9001488 Human Influenza ISO RGD:1551429 D RGD:4145439|PMID:12707338 20101104 RGD associated with Asthma;protein:increased expression:respiratory system fluid/secretion 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9001488 Human Influenza ISO RGD:1551429 D RGD:4145452|PMID:20656925 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351854 D RGD:5683918|PMID:21113841 20130731 RGD associated with Diabetes Mellitus, Type 2 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9002287 Respiratory Tract Granuloma IEP D RGD:4145477|PMID:15181185 20101105 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551429 D RGD:4145441|PMID:12600821 20101104 RGD mRNA:increased expression:lung 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4145472|PMID:19865101 20101105 RGD mRNA:increased expression:lymph node 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9002850 Immediate Hypersensitivity IEP D RGD:2307177|PMID:15823807 20090520 RGD mRNA:increased expression:nasal cavity epithelium 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9002906 Multiple Organ Failure ISO RGD:1551429 D RGD:7248409|PMID:16251415 20130731 RGD associated with Anthrax;protein:increased expression:serum 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9003470 Picornaviridae Infections ISO RGD:1551429 D RGD:4140459|PMID:20644177 20101102 RGD associated with Asthma 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9004009 Reperfusion Injury IEP D RGD:4145482|PMID:9665468 20101105 RGD mRNA:increased expression:aorta 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351854 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9004484 Sepsis IEP D RGD:7248417|PMID:21652218 20130731 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9005372 Inflammation ISO RGD:1351854 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23707484 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1551429 D RGD:7247742|PMID:22160777 20130730 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9007651 Chronic Bronchitis ISO RGD:1351854 D RGD:4145442|PMID:11991282 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9498 pulmonary eosinophilia ISO RGD:1551429 D RGD:4145437|PMID:12750406 20101104 RGD 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:1351854 D RGD:4145393|PMID:17983873 20101102 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung 3644 Ccl11 C-C motif chemokine ligand 11 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:7248415|PMID:23049540 20130731 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0050073 invasive aspergillosis severity ISO RGD:11275 D RGD:11528533|PMID:11160230 20160811 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0050700 cardiomyopathy IEP D RGD:2307006|PMID:18806609 20090514 RGD protein:increased expression:myocardium 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731046 D RGD:4891459|PMID:20855682 20110113 RGD protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression IEP D RGD:152998999|PMID:33411841 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:731046 D RGD:8661694|PMID:21883707 20140612 RGD DNA:polymorphism,haplotype::2518A>G(human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0060180 colitis IEP D RGD:2307009|PMID:18690297 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080016 spina bifida ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16596675 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080016 spina bifida ISO RGD:731046 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Spina bifida, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080074 neural tube defect ISO RGD:731046 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080158 herpes simplex virus keratitis severity ISO RGD:11275 D RGD:8548890|PMID:16997857 20140325 RGD associated with Herpes Simplex, Type 1 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis severity ISO RGD:731046 D RGD:8549732|PMID:8558841 20140402 RGD protein:increased expression:urine (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:731046 D RGD:11528534|PMID:15188361 20160811 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:14995922|PMID:25813056 20191031 RGD protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:731046 D RGD:14995928|PMID:24927058 20191031 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:11275 D RGD:14995462|PMID:30369082 20191025 RGD mRNA:increased expression:liver 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:731046 D RGD:14975280|PMID:24429361 20191004 RGD RNA:increased expression:liver: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility IEP D RGD:21076282|PMID:20606728 20200313 RGD mRNA:increased expression:liver (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:731046 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:30296676|PMID:32416070 20200616 RGD protein:increased expression:serum: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:30309200|PMID:32427582 20200618 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11275 D RGD:30309198|PMID:30626685 20200618 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis severity IEP D RGD:2307010|PMID:18642776 20090515 RGD mRNA:increased expression:pancreas 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis treatment IDA D RGD:11062108|PMID:19050604 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731046 D RGD:8549459|PMID:18284633 20140326 RGD mRNA:increased expression:orbital fat (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10325 silicosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26163174 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10533 viral pneumonia ISO RGD:11275 D RGD:4891451|PMID:19617401 20110113 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1063 interstitial nephritis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10762 portal hypertension ISO RGD:731046 D RGD:14995924|PMID:17161183 20191031 RGD associated with biliary atresia; 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension IEP D RGD:2307029|PMID:18459944 20090515 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension IEP D RGD:2307054|PMID:17989143 20090515 RGD protein:increased expression:urine 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20667508|PMID:27292124 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension treatment IDA D RGD:8549771|PMID:17922026 20140404 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10871 age related macular degeneration ISS RGD:11275 D RGD:13592920 20180518 MouseDO 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10873 Kuhnt-Junius degeneration severity ISO RGD:731046 D RGD:8548855|PMID:20937997 20140324 RGD protein:increased expression:aqueous humor of eyeball (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm IEP D RGD:11522723|PMID:25316629 20160810 RGD mRNA:increased expression:circle of Willis (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm IMP D RGD:2307000|PMID:19164781 20090514 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:10952 nephritis ISO RGD:731046 D RGD:11528565|PMID:24414608 20160815 RGD associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731046 D RGD:11528567|PMID:25839768 20160815 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:731046 D RGD:11522500|PMID:26234573 20160815 RGD DNA:snp:promoter:g.-2518C>T (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1115 sarcoma IEP D RGD:11528521|PMID:25667449 20160811 RGD protein:increased expression:serum (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11204 allergic conjunctivitis ISO RGD:11275 D RGD:8548840|PMID:19553621 20140321 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11339 pneumocystosis ISO RGD:731046 D RGD:4891428|PMID:20618689 20110113 RGD protein:increased expression:respiratory system fluid/secretion 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11396 pulmonary edema IEP D RGD:2307014|PMID:18555988 20090515 RGD associated with Shock, Septic;protein:increased expression:lung 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy IEP D RGD:2307005|PMID:19059387 20140326 RGD protein:increased expression:spinal cord dorsal horn, axon terminal (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:11275 D RGD:8549487|PMID:22564672 20140326 RGD protein:increased expression:lumbar dorsal root ganglion (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:731046 D RGD:11528561|PMID:19525846 20160815 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11713 diabetic angiopathy treatment IDA D RGD:11526153|PMID:23154660 20160810 RGD associated with Diabetes Mellitus, Experimental 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11714 gestational diabetes ISO RGD:731046 D RGD:2306986|PMID:18702087 20090513 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1205 allergic disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:21625544 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12053 cryptococcosis ISO RGD:11275 D RGD:11528563|PMID:11714821 20160815 RGD mRNA, protein:increased expression:lung (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12140 Chagas disease IEP D RGD:2307145|PMID:16844401 20090519 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:11275 D RGD:14995491|PMID:21826694 20191029 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:731046 D RGD:14975280|PMID:24429361 20191004 RGD RNA:increased expression:liver: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis severity ISO RGD:731046 D RGD:14995467|PMID:10446112 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12554 hemolytic-uremic syndrome IEP D RGD:11528527|PMID:10201001 20160811 RGD protein:increased expression:plasma (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12842 Guillain-Barre syndrome disease_progression ISO RGD:731046 D RGD:8549645|PMID:12507779 20140401 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12849 autistic disorder ISO RGD:731046 D RGD:8548858|PMID:21095018 20140324 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:1581158|PMID:15627719 19990101 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:12932 endomyocardial fibrosis IEP D RGD:1581155|PMID:14967845 19990101 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13100 intracranial vasospasm IEP D RGD:2306995|PMID:19401162 20090514 RGD associated with Subarachnoid Hemorrhage;mRNA, protein:increased expression:basilar artery 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis IMP D RGD:8549743|PMID:8903512 20140403 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis treatment IDA D RGD:8549770|PMID:17314328 20140404 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis IEP D RGD:8549475|PMID:16698015 20090515 RGD protein:increased expression:aqueous humor 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:731046 D RGD:8549485|PMID:17591667 20140326 RGD protein:increased expression:aqueous humor (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731046 D RGD:8549477|PMID:21850157 20140326 RGD associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:731046 D RGD:8548851|PMID:23549806 20140324 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease ISO RGD:731046 D RGD:8549488|PMID:12712358 20140326 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:731046 D RGD:8548882|PMID:19782713 20140325 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13375 temporal arteritis ISO RGD:731046 D RGD:1581162|PMID:15742444 19990101 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13413 hepatic encephalopathy IEP D RGD:14995926|PMID:29518527 20191031 RGD mRNA,protein:increased expression:brain, liver,serum: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:13603 obstructive jaundice treatment IDA D RGD:8549649|PMID:15573249 20140401 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis IEP D RGD:8549473|PMID:9404715 20140326 RGD associated with Encephalomyelitis, Autoimmune, Experimental;mRNA, protein:increased expression:iris, ciliary body, lumbar spinal cord (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:731046 D RGD:8661673|PMID:16950632 20140612 RGD DNA:polymorphism:promoter:rs1024610 (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis susceptibility ISO RGD:731046 D RGD:8548843|PMID:16280979 20140324 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:731046 D RGD:14995949|PMID:28834779 20191104 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:731046 D RGD:8661707|PMID:21264360 20140612 RGD DNA:polymorphism,haplotype::2518A>G(human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:731046 D RGD:4143275|PMID:20438838 20110113 RGD protein:increased expression:respiratory system fluid/secretion 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1532 pleural disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10923243 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1564 fungal infectious disease ISO RGD:731046 D RGD:7483612|PMID:22287435 20140612 RGD protein:increased expression:sinus: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1577 limited scleroderma ISO RGD:11275 D RGD:8661733|PMID:12925209 20140613 RGD mRNA,protein:increased expression:skin: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1588 thrombocytopenia ISO RGD:731046 D RGD:11528535|PMID:20414371 20160811 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25199511 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:182 calcinosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus IEP D RGD:2307057|PMID:17950261 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:12928151|PMID:20720404 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis severity ISO RGD:11275 D RGD:7401235|PMID:15823270 20140326 RGD mRNA:increased expression:aorta (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis treatment ISO RGD:11275 D RGD:8548896|PMID:11486244 20140325 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism IEP D RGD:8549642|PMID:17180354 20140401 RGD mRNA, protein:increased expression:aorta (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:731046 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:219 colon cancer IEP D RGD:5135051|PMID:21268133 20120322 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia IEP D RGD:8549729|PMID:7860708 20140402 RGD mRNA:increased expression:brain (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:8549519|PMID:21487414 20140327 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia IEP D RGD:2306998|PMID:19260320 20090514 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2349 arteriosclerosis ISO RGD:11275 D RGD:2306988|PMID:18093596 20090513 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2355 anemia treatment ISO RGD:11275 D RGD:11528557|PMID:24963216 20160815 RGD associated with Colonic Neoplasms 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2377 multiple sclerosis ISO RGD:731046 D RGD:4145472|PMID:19865101 20150406 RGD DNA:SNPs, haplotype 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2518 orchitis IEP D RGD:1358455|PMID:14638441 20140328 RGD protein:increased expression:testicle, fluid (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2773 contact dermatitis ISO RGD:11275 D RGD:9590167|PMID:22679019 20160809 RGD protein:increased expression:serum (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2799 bronchiolitis obliterans IMP D RGD:2307195|PMID:14611812 20090520 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma IEP D RGD:2307055|PMID:17964702 20090515 RGD protein:increased expression:lung 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:11275 D RGD:11528570|PMID:12055264 20160815 RGD mRNA:increased expression:lung (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19373627 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:4145509|PMID:20205697 20110113 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:8551842|PMID:23454776 20140606 RGD DNA:haplotype::-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma severity ISO RGD:731046 D RGD:4891466|PMID:19373627 20110114 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2841 asthma treatment ISO RGD:11275 D RGD:11528569|PMID:25441643 20160815 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:289 endometriosis ISO RGD:731046 D RGD:11528566|PMID:15005786 20160815 RGD protein:increased expression:peritoneal fluid (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2920 membranoproliferative glomerulonephritis treatment IMP D RGD:8549648|PMID:10411686 20140401 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2921 glomerulonephritis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:30309221|PMID:15356152 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:32716399|PMID:15602737 20200629 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:34201108|PMID:15888207 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:30309218|PMID:16195357 20200619 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:30309219|PMID:15657466 20200619 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:11275 D RGD:32716426|PMID:32553273 20200630 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:731046 D RGD:30309220|PMID:15781938 20200619 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16352737|PMID:18940815 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:731046 D RGD:4891439|PMID:20111728 20110113 RGD DNA:polymorphism: :-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:2986 IgA glomerulonephritis IEP D RGD:2307041|PMID:18433541 20090515 RGD protein:increased expression:kidney 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3071 gliosarcoma severity ISO RGD:11275 D RGD:11526112|PMID:7489565 20160809 RGD mouse gene in a rat model 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:4142853|PMID:20404807 20110113 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:4891442|PMID:20056091 20110113 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:4891453|PMID:19615053 20110113 RGD associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease treatment IMP D RGD:8549558|PMID:1387671 20141020 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:34652871 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:4891429|PMID:20497022 20110113 RGD protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:326 ischemia ISO RGD:731046 D RGD:1581163|PMID:15308783 19990101 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3312 bipolar disorder ISO RGD:731046 D RGD:1358456|PMID:15034225 19990101 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease IEP D RGD:8549513|PMID:16297799 20140327 RGD protein:increased expression:myocardium (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11500196|PMID:16934270 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease ISO RGD:731046 D RGD:8549577|PMID:9537339 20140331 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease ISO RGD:731046 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Coronary artery disease, modifier of PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3407 carotid artery disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12374626|PMID:23043544|PMID:25257527 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3526 cerebral infarction treatment ISO RGD:11275 D RGD:155260331|PMID:29111308 20220930 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3612 retinitis ISO RGD:11275 D RGD:11528560|PMID:25159208 20160815 RGD protein:increased expression:retina (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis IEP D RGD:8549730|PMID:7525714 20140402 RGD mRNA, protein:increased expression:lung, eosinophil (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11275 D RGD:4145112|PMID:20833968 20110113 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324872|PMID:17720292|PMID:26163174 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731046 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30418988 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:399 tuberculosis ISO RGD:731046 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:399 tuberculosis ISO RGD:731046 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4029 gastritis treatment IDA D RGD:11526150|PMID:23892052 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4079 heart valve disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:409 liver disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17125873 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:4891453|PMID:19615053 20110113 RGD protein:increased expression:respiratory system fluid/secretion 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:5683876|PMID:21285114 20111202 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma severity ISO RGD:731046 D RGD:5135284|PMID:21049277 20140326 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4195 hyperglycemia ISO RGD:731046 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:8548856|PMID:14566334 20140324 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:8661224|PMID:24142887 20140610 RGD mRNA,protein:increased expression:retina: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9491385|PMID:17652758 20140909 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration severity ISO RGD:731046 D RGD:8549496|PMID:22172228 20140327 RGD protein:increased expression:aqueous humor (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:7829760|PMID:22066978 20140327 RGD associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema severity ISO RGD:731046 D RGD:2306981|PMID:19118698 20090513 RGD associated with Diabetic Retinopathy;protein:increased expression:vitreous humor 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:2307059|PMID:17898087 20090515 RGD mRNA:increased expression:glomerulus 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:6218988|PMID:21894146 20130304 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis treatment IDA D RGD:4145614|PMID:20071465 20140408 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis IEP D RGD:2307002|PMID:19111613 20090514 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis IMP D RGD:2307046|PMID:18297440 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:731046 D RGD:8549548|PMID:16284287 20140328 RGD human gene in rat model 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:50 thyroid gland disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5082 liver cirrhosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20697377 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5199 ureteral obstruction ISO RGD:731046 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731046 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731046 D RGD:14995461|PMID:27246604 20191025 RGD protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731046 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:14571188 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:11275 D RGD:8548846|PMID:17284607 20140324 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:731046 D RGD:2316760|PMID:19139725 20140325 RGD protein:increased expression:vitreous humor (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5419 schizophrenia ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18486454 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:11275 D RGD:4891461|PMID:19648283 20110113 RGD protein:increased expression:respiratory system fluid/secretion 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:557 kidney disease IMP D RGD:2307176|PMID:15882261 20090520 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction IEP D RGD:2307033|PMID:18459941 20090515 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:731046 D RGD:1581161|PMID:16116069 19990101 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction treatment IDA D RGD:8549616|PMID:18753699 20140401 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure IEP D RGD:1581156|PMID:12950323 19990101 RGD mRNA:increased expression:heart left ventricle 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:731046 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:630 genetic disease ISO RGD:731046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:631 fibromyalgia ISO RGD:731046 D RGD:14995946|PMID:19924498 20191104 RGD protein:decreased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension IEP D RGD:2307003|PMID:19087668 20090514 RGD protein:increased expression:lung, plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension IEP D RGD:8549547|PMID:9605182 20140328 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:731046 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:15302794|PMID:30418988 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731046 D RGD:14995459|PMID:27980102 20191025 RGD RNA:increased expression:liver 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11275 D RGD:14995459|PMID:27980102 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731046 D RGD:14995468|PMID:12679798 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731046 D RGD:14995927|PMID:22402625 20191031 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731046 D RGD:4891442|PMID:20056091 20110113 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:2307015|PMID:18482727 20090515 RGD protein:increased expression:aorta 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease IEP D RGD:8549739|PMID:12080327 20140403 RGD protein:increased expression:renal proximal tubule (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110|PMID:19539174 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:731046 D RGD:2306990|PMID:17982227 20090514 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease treatment IDA D RGD:2307007|PMID:18797164 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:801 hemarthrosis ISO RGD:11275 D RGD:11528538|PMID:19444976 20160811 RGD associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:811 lipodystrophy ISO RGD:731046 D RGD:1581157|PMID:16697654 19990101 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:820 myocarditis severity ISO RGD:731046 D RGD:8549580|PMID:11472393 20140331 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:823 periapical periodontitis IEP D RGD:8661717|PMID:24631631 20140612 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:824 periodontitis IEP D RGD:2306992|PMID:17876613 20090514 RGD protein:increased expression:gingiva 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:8466 retinal degeneration ISO RGD:731046 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:8469 influenza ISO RGD:11275 D RGD:4145439|PMID:12707338 20160826 RGD associated with Asthma;protein:decreased expression:alveolar system (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:2307141|PMID:17304115 20090519 RGD Acute Lung Injury;mRNA:increased expression:lung 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:4891456|PMID:19515386 20110113 RGD associated with Contusions;protein:increased expression:respiratory system fluid/secretion 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:8566 herpes simplex ISO RGD:11275 D RGD:8549472|PMID:9544579 20140326 RGD mRNA:increased expression:cornea (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:11275 D RGD:4891443|PMID:20042590 20110113 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:8778 Crohn's disease ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:8923 skin melanoma disease_progression ISO RGD:731046 D RGD:9491398|PMID:17169533 20140909 RGD DNA:SNP: :2578A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:8947 diabetic retinopathy IEP D RGD:8548887|PMID:23010641 20141020 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000226 Periodontal Cyst ISO RGD:731046 D RGD:8661719|PMID:16101967 20140612 RGD mRNA:increased expression:gingiva: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:731046 D RGD:14995923|PMID:19247846 20191031 RGD protein:increased expression:serum: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000310 Lung Injury ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000641 Pain IDA D RGD:2307043|PMID:18419759 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:11275 D RGD:14995459|PMID:27980102 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11275 D RGD:4891460|PMID:19762564 20110113 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11275 D RGD:4891450|PMID:19629725 20110113 RGD associated with Mammary Neoplasms, Experimental 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries IEP D RGD:2306999|PMID:19210118 20090514 RGD protein:increased expression:brain, neuron 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries treatment IMP D RGD:9587789|PMID:11113322 20141020 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:731046 D RGD:8661721|PMID:20059422 20140612 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:11275 D RGD:8548832|PMID:17389519 20140321 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001205 Experimental Autoimmune Orchitis IEP D RGD:1358455|PMID:14638441 20140820 RGD protein:increased expression:testis (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:8549494|PMID:22466130 20140327 RGD L5 spinal nerve;proein:increased expression:rostral ventrolateral medulla (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001427 Geographic Atrophy ISO RGD:731046 D RGD:8661224|PMID:24142887 20140610 RGD protein:increased expression:aqueous humor of eyeball 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001472 Nasal Polyps ISO RGD:731046 D RGD:7483612|PMID:22287435 20140612 RGD protein:increased expression:sinus: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:11275 D RGD:4891425|PMID:20967263 20110113 RGD mRNA:increased expression:lung 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression IEP D RGD:11526154|PMID:15855648 20160810 RGD mRNA, protein:increased expression:liver, serum (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2307001|PMID:19144177 20090514 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15492853 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:14995945|PMID:28437891 20191104 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:731046 D RGD:8549576|PMID:15492853 20140331 RGD human gene in rat model 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001606 Acute Anterior Uveitis severity ISO RGD:731046 D RGD:8549479|PMID:9426952 20140326 RGD protein:increased expression:aqueous humor (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy IEP D RGD:10755562|PMID:11135063 20160811 RGD mRNA:increased expression:kidney (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy IEP D RGD:8549481|PMID:10844611 20140326 RGD mRNA:increased expression:kidney (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:11526144|PMID:24325836 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:8549627|PMID:9500701 20140401 RGD mRNA, protein:increased expression:liver, serum (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:11275 D RGD:14995460|PMID:27229110 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:14995929|PMID:10630515 20191031 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2306980|PMID:19369290 20090513 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2306989|PMID:18031723 20090513 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374426 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:2306979|PMID:19409809 20090513 RGD protein:increased expression:urine 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:2306982|PMID:19097668 20090513 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11275 D RGD:2306991|PMID:17968528 20090514 RGD associated with Diabetes Mellitus, Experimental 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia IDA D RGD:2307043|PMID:18419759 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia IEP D RGD:8548873|PMID:21712071 20140324 RGD protein:increased expression:dorsal root ganglion, spinal cord (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia IMP D RGD:8548845|PMID:22531750 20140324 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:11275 D RGD:8548848|PMID:20737477 20140324 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17881535 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:11275 D RGD:4145441|PMID:12600821 20110112 RGD associated with Schistosomiasis mansoni 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma treatment IDA D RGD:8549740|PMID:9042155 20140403 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002311 Experimental Autoimmune Myocarditis disease_progression IEP D RGD:8549580|PMID:11472393 20140331 RGD mRNA, protein:increased expression:heart, serum (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002371 Cardiotoxicity ISO RGD:731046 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:2307008|PMID:18726678 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:2307143|PMID:17052673 20090519 RGD mRNA, protein:increased expression:synovium 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis IMP D RGD:2307052|PMID:18292571 20090515 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:11526142|PMID:24583103 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:11275 D RGD:14995948|PMID:23032084 20191104 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002605 Delayed Hypersensitivity IEP D RGD:8549532|PMID:8774140 20140327 RGD protein:increased expression:dermis, neutrophil (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18606702 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002669 Hypoxia IEP D RGD:8549511|PMID:20813992 20140327 RGD protein:increased expression:plasma (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2307114|PMID:17666800 20090519 RGD mRNA:increased expression:spinal cord 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4145472|PMID:19865101 20150406 RGD mRNA:decreased expression:lymph node 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:8548888|PMID:11241588 20140325 RGD mRNA:increased expression:optic chiasma (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002906 Multiple Organ Failure IEP D RGD:8549633|PMID:15793719 20140401 RGD protein:increased expression:serum, peritoneal fluid (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11275 D RGD:8548878|PMID:16710171 20140325 RGD mRNA:increased expression:retina (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment IDA D RGD:11526145|PMID:19038868 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:11275 D RGD:8549464|PMID:17081714 20140326 RGD mRNA:increased expression:cochlea (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:731046 D RGD:8548881|PMID:16224495 20140325 RGD human gene in mouse model 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment IDA D RGD:11528529|PMID:12917249 20160811 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003617 Carrington Syndrome ISO RGD:731046 D RGD:11528564|PMID:11488333 20160815 RGD protein:increased expression:alveolar system (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:731046 D RGD:8548839|PMID:9865755 20140321 RGD protein:increased expression:nasal turbinate, mucosa (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:8549543|PMID:9270493 20140327 RGD protein:increased expression:forebrain (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003779 Vasculitis of the Skin susceptibility ISO RGD:731046 D RGD:11528536|PMID:11844145 20160826 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003871 Venous Thrombosis IEP D RGD:2307053|PMID:18167211 20090515 RGD mRNA, protein:increased expression:vein 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9003969 Peri-Implantitis ISO RGD:731046 D RGD:8661721|PMID:20059422 20140612 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468449|PMID:15829914 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:8549744|PMID:22611311 20140403 RGD Gastric Reperfusion Injury 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:731046 D RGD:14975280|PMID:24429361 20191004 RGD RNA:increased expression:liver: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004059 Eye Neoplasms ISO RGD:11275 D RGD:8549483|PMID:18958307 20140326 RGD mRNA:increased expression:eye (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection ISO RGD:11275 D RGD:8657367|PMID:14662900 20140609 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:731046 D RGD:8548879|PMID:12239249 20140325 RGD kidney;DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731046 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004484 Sepsis IEP D RGD:2307002|PMID:19111613 20090514 RGD mRNA:increased expression:ileum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731046 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:25199511|PMID:32512068 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:14995451|PMID:12579535 20191024 RGD protein, mRNA:increased expression:serum, liver 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:8549567|PMID:8283136 20140331 RGD mRNA:increased expression:liver (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury IEP D RGD:6480432|PMID:21767135 20120321 RGD mRNA, protein:increased expression:lung 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004912 Hyperoxaluria ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy IEP D RGD:8548884|PMID:15041200 20140325 RGD protein:increased expression:ipsilateral side, dorsal root ganglion (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:11275 D RGD:8548831|PMID:22721162 20140321 RGD protein:increased expression:medulla oblongata, dorsal horn of spinal cord (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005036 Bacteremia ISO RGD:731046 D RGD:11528568|PMID:22584776 20160815 RGD associated with Febrile Neutropenia;protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005166 Contusions IEP D RGD:2307147|PMID:16832247 20090519 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation IEP D RGD:4891427|PMID:20921064 20110113 RGD associated with Hypertension;protein:increased expression:aorta 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14570645|PMID:19762220|PMID:20816778 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306984|PMID:18976114 20090513 RGD protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306992|PMID:17876613 20090514 RGD protein:increased expression:gingiva 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:8549535|PMID:16891764 20140327 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005647 Experimental Autoimmune Uveitis IEP D RGD:8549495|PMID:15109911 20140327 RGD mRNA:increased expression:iris, ciliary body, popliteal lymph nodes (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9005930 Endotoxemia IEP D RGD:2307004|PMID:19060786 20090514 RGD protein:increased expression:plasma 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment IDA D RGD:11526152|PMID:15353495 20160810 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:731046 D RGD:8549774|PMID:12223446 20140404 RGD human gene in rat model 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11275 D RGD:4891433|PMID:20396927 20110113 RGD mRNA, protein:increased expression:kidney, lung, serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:11526113|PMID:18650485 20160809 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006559 Granulomatous Vasculitis IMP D RGD:8549573|PMID:8231108 20140331 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006614 Lower Extremity Deep Vein Thrombosis ISO RGD:731046 D RGD:8548850|PMID:16273763 20140324 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:731046 D RGD:14995463|PMID:27058904 20191025 RGD associated with colorectal cancer 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:11275 D RGD:8661671|PMID:12605265 20140612 RGD mRNA:increased expression:eye: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16188961|PMID:18486454 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:731046 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:731046 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731046 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:731046 D RGD:11528571|PMID:16358960 20160815 RGD protein:increased expression:serum (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:11275 D RGD:14995489|PMID:25557254 20191029 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke IEP D RGD:2307024|PMID:18473828 20090515 RGD protein:increased expression:brain, neuron 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:731046 D RGD:1581163|PMID:15308783 19990101 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia IEP D RGD:8549542|PMID:10068207 20140327 RGD protein:increased expression:plasma, heart (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25199511 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms no_association ISO RGD:731046 D RGD:8661698|PMID:21570337 20140612 RGD DNA:polymorphism::2518G>A(human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11275 D RGD:14995458|PMID:30663942 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11275 D RGD:14995466|PMID:21813474 20191025 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:11275 D RGD:8548844|PMID:22983634 20140324 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:731046 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:731046 D RGD:2306985|PMID:18762729 20090513 RGD associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis IEP D RGD:8655962|PMID:12098510 20140523 RGD mRNA:increased expression:spinal cord (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:2307016|PMID:18475188 20090515 RGD mRNA:increased expression:small intestine 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:8549625|PMID:10908159 20140401 RGD mRNA:increased expression:heart (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9007988 Granulomatous Interstitial Nephritis IEP D RGD:11526149|PMID:20231821 20160810 RGD mRNA, protein:increased expression:kidney, serum (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731046 D RGD:14995947|PMID:26281331 20191104 RGD protein:decreased expression:serum: 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9008313 Febrile Neutropenia ISO RGD:731046 D RGD:11528559|PMID:23369970 20160815 RGD associated with Hematologic Diseases;protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9008414 Pulmonary Contusion IEP D RGD:11060268|PMID:16044083 20160811 RGD protein:increased expression:alveolar system (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9008609 Endotoxin-Induced Uveitis treatment IDA D RGD:2298858|PMID:18087711 20140326 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9008881 Coronary Artery Disease, Development of, in HIV ISO RGD:731046 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:731046 D RGD:11528536|PMID:11844145 20160811 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:731046 D RGD:11528535|PMID:20414371 20160811 RGD DNA:snp:promoter:g.-2518A>G (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731046 D RGD:11528537|PMID:17822317 20160811 RGD protein:increased expression:plasma (human) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:11275 D RGD:11528532|PMID:25382729 20160811 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9279 hyperhomocysteinemia IEP D RGD:8549578|PMID:17977907 20140331 RGD mRNA, protein:increased expression:kidney (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2301862|PMID:18388116 20090513 RGD protein:increased expression:urine 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:14995493|PMID:25899686 20191029 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9446 cholangitis treatment IEP D RGD:14995925|PMID:17102917 20191031 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9452 fatty liver disease ISO RGD:11275 D RGD:8548844|PMID:22983634 20140324 RGD 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9452 fatty liver disease ISO RGD:731046 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9477 pulmonary embolism IEP D RGD:11528528|PMID:16814320 20160811 RGD mRNA:increased expression:heart right ventricle (rat) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9538 multiple myeloma ISO RGD:731046 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:731046 D RGD:4891458|PMID:20966041 20110113 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731046 D RGD:2306983|PMID:19092169 20090513 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11275 D RGD:8549575|PMID:11317664 20140331 RGD mRNA:increased expression:pancreatic islet (mouse) 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9970 obesity IEP D RGD:2307038|PMID:18469848 20090515 RGD protein:increased expression:serum 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 3645 Ccl2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:2306993|PMID:17803693 20090514 RGD protein, mRNA:increased expression:plasma, fat 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:0050073 invasive aspergillosis ISO RGD:1332345 D RGD:7483599|PMID:20926800 20131203 RGD protein:increased expression:lung 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:0050486 exanthem ISO RGD:1347908 D RGD:7483602|PMID:18384452 20131203 RGD mRNA, protein:increased expression:skin 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1347908 D RGD:7483601|PMID:22048239 20131203 RGD mRNA, protein:increased expression:skin, serum 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1332345 D RGD:7483593|PMID:15287366 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:0080600 COVID-19 ISO RGD:1347908 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:10140 dry eye syndrome treatment ISO RGD:1332345 D RGD:7483582|PMID:23702781 20131202 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:11168 anogenital venereal wart ISO RGD:1347908 D RGD:7483603|PMID:17545018 20131203 RGD protein:decreased expression:skin 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:11729 Lyme disease ISO RGD:1347908 D RGD:7488895|PMID:23371320 20131204 RGD protein:increased expression:synovial fluid 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:1205 allergic disease ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1332345 D RGD:7483613|PMID:20007286 20131203 RGD mRNA:increased expression:conjunctiva, cornea 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:1564 fungal infectious disease ISO RGD:1347908 D RGD:7483612|PMID:22287435 20131203 RGD associated with Rhinosinusitis 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:7483623|PMID:10225458 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:224 transient cerebral ischemia treatment IMP D RGD:7488896|PMID:19428685 20131204 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:2316 brain ischemia IEP D RGD:69987|PMID:9916893 20131203 RGD mRNA:increased expression:cerebral cortex 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:2377 multiple sclerosis ISO RGD:1347908 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:2722 acrodermatitis ISO RGD:1347908 D RGD:7483609|PMID:17606602 20131203 RGD mRNA:decreased expression:skin 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:7483597|PMID:18422729 20131203 RGD protein:increased expression:respiratory system fluid/secretion 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:7483618|PMID:22469443 20131203 RGD associated with Allergic Rhinitis;protein:increased expression:serum 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347908 D RGD:7483632|PMID:23192593 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:3178 skin papilloma ISO RGD:1347908 D RGD:7483622|PMID:21715145 20131203 RGD protein:decreased expression:skin 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis severity ISO RGD:1347908 D RGD:7483580|PMID:11133838 20131202 RGD protein:increased expression:plasma 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis treatment ISO RGD:1332345 D RGD:7483583|PMID:19162238 20131202 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:37 skin disease ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:418 systemic scleroderma ISO RGD:1347908 D RGD:7483587|PMID:21742595 20131202 RGD mRNA:increased expression:skin 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:5199 ureteral obstruction ISO RGD:1347908 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:552 pneumonia ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:630 genetic disease ISO RGD:1347908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis ISO RGD:1347908 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis treatment IEP D RGD:7488892|PMID:21887805 20131204 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1332345 D RGD:7483594|PMID:22895364 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1347908 D RGD:7483581|PMID:10843722 20131202 RGD mRNA:increased expression:skin 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis treatment ISO RGD:1347908 D RGD:7483625|PMID:16081850 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1347908 D RGD:14995923|PMID:19247846 20191031 RGD protein:increased expression:serum: 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:7488893|PMID:17977275 20131204 RGD mRNA:increased expression:cerebral artery 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347908 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000998 Brain Injuries treatment IEP D RGD:7483630|PMID:22040257 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:7483586|PMID:19027509 20131202 RGD associated with Allergic Rhinitis 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:7483612|PMID:22287435 20131203 RGD associated with Rhinosinusitis 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347908 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7483629|PMID:17664181 20131203 RGD associated with Diabetes Mellitus, Experimental 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9002395 Hypothermia IEP D RGD:2311385|PMID:16469832 20131204 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9002928 Colonic Neoplasms ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9003036 Oral Lichen Planus ISO RGD:1347908 D RGD:7483584|PMID:16454813 20131202 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1332345 D RGD:7483600|PMID:14500387 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9004590 Acute Liver Failure ISO RGD:1347908 D RGD:14995923|PMID:19247846 20191031 RGD protein:increased expression:serum: 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21340626 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9005941 Rhinosinusitis ISO RGD:1347908 D RGD:7483585|PMID:16702571 20131202 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:1332345 D RGD:7483600|PMID:14500387 20131203 RGD 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9008939 Breast Neoplasms ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347908 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21340626 3646 Ccl20 C-C motif chemokine ligand 20 gene DOID:9938 dacryocystitis ISO RGD:1332345 D RGD:7483616|PMID:23116218 20131203 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0050855 renal fibrosis IEP D RGD:7175323|PMID:21370451 20130313 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:735784 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0080162 lupus nephritis ISO RGD:11276 D RGD:7241814|PMID:18187931 20130314 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0080599 Coronavirus infectious disease ISO RGD:11276 D RGD:4891446|PMID:19906920 20200617 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0080600 COVID-19 ISO RGD:735784 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0080600 COVID-19 severity ISO RGD:735784 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0080600 COVID-19 severity ISO RGD:735784 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11276 D RGD:30309198|PMID:30626685 20200618 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:10533 viral pneumonia ISO RGD:735784 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:10952 nephritis IEP D RGD:7175323|PMID:21370451 20130313 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1205 allergic disease ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:23624239 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:12140 Chagas disease IEP D RGD:2307145|PMID:16844401 20090519 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:12351 alcoholic hepatitis severity ISO RGD:735784 D RGD:14995467|PMID:10446112 20191025 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:11276 D RGD:7241820|PMID:17220320 20130315 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735784 D RGD:7241818|PMID:17684420 20130315 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:13139 crescentic glomerulonephritis IEP D RGD:2307059|PMID:17898087 20130315 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:13139 crescentic glomerulonephritis ISO RGD:735784 D RGD:7241813|PMID:18846416 20130314 RGD associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1407 anterior uveitis IEP D RGD:2303104|PMID:12144807 20090202 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1790 malignant mesothelioma ISO RGD:735784 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1824 status epilepticus IEP D RGD:8552226|PMID:22248156 20140416 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1824 status epilepticus ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19490431 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:1936 atherosclerosis ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24370436 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:219 colon cancer IEP D RGD:5135051|PMID:21268133 20120322 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:2316 brain ischemia ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:2921 glomerulonephritis ISO RGD:11276 D RGD:7241804|PMID:18941245 20130313 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:2921 glomerulonephritis ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11276 D RGD:30309221|PMID:15356152 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:3021 acute kidney failure ISO RGD:735784 D RGD:6906908|PMID:20482449 20130313 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:3323 Sandhoff disease ISO RGD:11276 D RGD:7241825|PMID:15155903 20130315 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:3526 cerebral infarction treatment ISO RGD:11276 D RGD:155260331|PMID:29111308 20220930 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:3770 pulmonary fibrosis ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324872|PMID:17720292 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:418 systemic scleroderma ISO RGD:735784 D RGD:5683876|PMID:21285114 20111202 RGD protein:increased expression:serum 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735784 D RGD:7240710 20230505 OMIM 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:552 pneumonia ISO RGD:735784 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:630 genetic disease ISO RGD:735784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:684 hepatocellular carcinoma ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284949 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:783 end stage renal disease ISO RGD:735784 D RGD:7175169|PMID:22613545 20130313 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9000310 Lung Injury ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11276 D RGD:7241810|PMID:18941229 20130314 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:735784 D RGD:7241819|PMID:17298994 20130315 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:2307143|PMID:17052673 20090519 RGD mRNA, protein:increased expression:synovium, monocytes 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2307114|PMID:17666800 20090519 RGD mRNA:increased expression:spinal cord 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9004283 Transplant Rejection ISO RGD:735784 D RGD:7241797|PMID:20688906 20130313 RGD 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9004590 Acute Liver Failure ISO RGD:735784 D RGD:14995451|PMID:12579535 20191024 RGD protein, mRNA:increased expression:serum, liver 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9005372 Inflammation ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735784 D RGD:7241836|PMID:10353879 20130315 RGD associated with renal allograft recipients 3647 Ccl3 C-C motif chemokine ligand 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3648 Sdc1 syndecan 1 gene DOID:0080600 COVID-19 ISO RGD:730864 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3648 Sdc1 syndecan 1 gene DOID:1168 familial hyperlipidemia IMP D RGD:1643125|PMID:17403197 20071203 RGD 3648 Sdc1 syndecan 1 gene DOID:1790 malignant mesothelioma ISO RGD:730864 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 3648 Sdc1 syndecan 1 gene DOID:2843 long QT syndrome ISO RGD:730864 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 3648 Sdc1 syndecan 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730864 D RGD:151708716|PMID:23374247 20220812 RGD mRNA:increased expression:lung (human) 3648 Sdc1 syndecan 1 gene DOID:4195 hyperglycemia ISO RGD:730864 D RGD:1643127|PMID:16810465 20071203 RGD protein:decreased expression:blood vessel endothelial cell 3648 Sdc1 syndecan 1 gene DOID:576 proteinuria IEP D RGD:1643128|PMID:16622173 20071203 RGD mRNA, protein:increased expression:glomerulus 3648 Sdc1 syndecan 1 gene DOID:5844 myocardial infarction IEP D RGD:2311712|PMID:9237025 20090731 RGD mRNA:increased expression:myocardium 3648 Sdc1 syndecan 1 gene DOID:630 genetic disease ISO RGD:730864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3648 Sdc1 syndecan 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:730864 D RGD:9743928|PMID:9746758 19990101 RGD protein:altered expression:tumor (human) 3648 Sdc1 syndecan 1 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:730864 D RGD:9743929|PMID:11157493 19990101 RGD protein:altered expression:tumor (human) 3648 Sdc1 syndecan 1 gene DOID:9005372 Inflammation IDA D RGD:1643133|PMID:14704229 20071204 RGD protein:decreased glycosylation:gastrointestinal system mesentery, venule 3648 Sdc1 syndecan 1 gene DOID:9970 obesity IEP D RGD:1643129|PMID:11522680 20071203 RGD mRNA:increased expression:liver 3648 Sdc1 syndecan 1 gene DOID:9970 obesity ISO RGD:730865 D RGD:1357925|PMID:15189116 20070718 RGD 3649 Sdc2 syndecan 2 gene DOID:630 genetic disease ISO RGD:734386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3649 Sdc2 syndecan 2 gene DOID:674 cleft palate ISO RGD:734386 D RGD:12798509|PMID:18716610 20170322 RGD 3649 Sdc2 syndecan 2 gene DOID:9296 cleft lip ISO RGD:734386 D RGD:12798509|PMID:18716610 20170322 RGD 3649 Sdc2 syndecan 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734386 D RGD:2311706|PMID:14976204 20090731 RGD protein:increased expression:kidney 3650 Sdc4 syndecan 4 gene DOID:0080600 COVID-19 ISO RGD:730877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3650 Sdc4 syndecan 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 3650 Sdc4 syndecan 4 gene DOID:104 bacterial infectious disease IMP D RGD:2312325|PMID:15001228 20090805 RGD 3650 Sdc4 syndecan 4 gene DOID:2234 focal epilepsy ISO RGD:730877 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 3650 Sdc4 syndecan 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 3650 Sdc4 syndecan 4 gene DOID:5844 myocardial infarction ISO RGD:730877 D RGD:2312328|PMID:11372670 20090806 RGD protein:increased expression:plasma 3650 Sdc4 syndecan 4 gene DOID:630 genetic disease ISO RGD:730877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3650 Sdc4 syndecan 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 3650 Sdc4 syndecan 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11279 D RGD:2311707|PMID:14633120 20090731 RGD mRNA:increased expression:kidney 3650 Sdc4 syndecan 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730877 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:10283 prostate cancer ameliorates ISO RGD:737223 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:11664 nephrosclerosis ISO RGD:737223 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:737223 D RGD:2306558|PMID:16723689 20090423 RGD associated with Diabetic Foot;DNA:polymorphism:3' utr (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:12932 endomyocardial fibrosis ISO RGD:737223 D RGD:11554173 20220308 CTD CTD Direct Evidence: therapeutic PMID:34310909 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:1790 malignant mesothelioma ISO RGD:737223 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:1824 status epilepticus IEP D RGD:2306568|PMID:19054393 20090423 RGD protein:increased expression:brain 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:224 transient cerebral ischemia IEP D RGD:11352662|PMID:24924806 20160714 RGD protein:increased expression:hippocampus: 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:2316 brain ischemia IEP D RGD:2306577|PMID:18206136 20090423 RGD mRNA, protein:increased expression:brain 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:2596 larynx cancer exacerbates ISO RGD:737223 D RGD:152177474|PMID:23259294 20220511 RGD protein:increased expression: mucosa of larynx (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:2723 dermatitis ISO RGD:737223 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:326 ischemia ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18227068 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:3393 coronary artery disease ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:3459 breast carcinoma susceptibility ISO RGD:737223 D RGD:2317609|PMID:15978329 20100413 RGD DNA:polymorphism (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:3892 insulinoma ISO RGD:737223 D RGD:2317608|PMID:19013212 20100413 RGD protein:increased expression:pancreas 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737223 D RGD:155804290|PMID:29218250 20230116 RGD mRNA:decreased expression:kidney: 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:2306579|PMID:17557270 20090423 RGD mRNA:increased expression:glomerulus 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:7240710 20230505 OMIM 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9430590 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction IEP D RGD:632503|PMID:11820456 20090427 RGD mRNA:increased expression:heart left ventricle 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction IMP D RGD:2306567|PMID:19187644 20090423 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:630 genetic disease ISO RGD:737223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:684 hepatocellular carcinoma ISO RGD:737223 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:824 periodontitis ISO RGD:737223 D RGD:2306575|PMID:18454663 20090423 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:8947 diabetic retinopathy severity ISO RGD:737223 D RGD:2306559|PMID:15630447 20090423 RGD protein:increased expression:vitreous humor 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737223 D RGD:152023624|PMID:21633638 20220422 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000641 Pain IMP D RGD:2306307|PMID:11438578 20090416 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000656 Penetrating Wounds ISO RGD:11280 D RGD:2306556|PMID:17950070 20090423 RGD associated with Diabetes Mellitus 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:2317610|PMID:12761880 20100413 RGD associated with Pancreatic Neoplasms 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737223 D RGD:10398726|PMID:26330165 20150908 RGD associated with Pancreatic Carcinoma 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:increased expression:gingival tissues (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001600 Wounds and Injuries IEP D RGD:2306564|PMID:19327017 20090423 RGD mRNA, protein:increased expression:ligament 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737223 D RGD:11554173 20220308 CTD CTD Direct Evidence: therapeutic PMID:34310909 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002138 Spinal Cord Reperfusion Injury IMP D RGD:12910551|PMID:27760212 20170620 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002211 Hyperalgesia IDA D RGD:13838657|PMID:28638088 20190108 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785557 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002801 Recurrence ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22607768 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9004009 Reperfusion Injury IEP D RGD:2306570|PMID:18709383 20090423 RGD protein:increased expression:retina 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:25231984|PMID:25753200 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9004994 Embryo Loss ISO RGD:11280 D RGD:2306554|PMID:18384776 20090422 RGD associated with Diabetes Mellitus, Insulin-Dependent 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306555|PMID:18201529 20090423 RGD protein:increased expression:retina 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11280 D RGD:2306557|PMID:17878289 20090423 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:737223 D RGD:151893289|PMID:30789971 20220420 RGD associated with colorectal cancer; human cells in mouse model 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9008763 Femoral Fractures treatment IEP D RGD:11352664|PMID:25181476 20160714 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18521742 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737223 D RGD:2306553|PMID:18451752 20090422 RGD protein:increased expression:plasma 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11280 D RGD:2306562|PMID:12383202 20090423 RGD 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:737223 D RGD:2306561|PMID:14679085 20090423 RGD DNA:polymorphism:3' utr (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11280 D RGD:2301942|PMID:18793419 20081111 RGD mRNA:increased expression:bone marrow 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:737223 D RGD:2306560|PMID:14522095 20090423 RGD DNA:polymorphism:3' utr (human) 3651 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:737223 D RGD:2306563|PMID:11334429 20090423 RGD DNA:polymorphism:3' utr (human) 3653 Exoc6 exocyst complex component 6 gene DOID:630 genetic disease ISO RGD:733206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3654 Sele selectin E gene DOID:0060224 atrial fibrillation ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 3654 Sele selectin E gene DOID:0080600 COVID-19 ISO RGD:736831 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 3654 Sele selectin E gene DOID:0080600 COVID-19 severity ISO RGD:736831 D RGD:32716385|PMID:32458111 20200626 RGD mRNA,protein:increased expression:plasma (human) 3654 Sele selectin E gene DOID:1287 cardiovascular system disease ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:16544732 3654 Sele selectin E gene DOID:1540 parathyroid carcinoma ISO RGD:736831 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3654 Sele selectin E gene DOID:1555 urticaria ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 3654 Sele selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 3654 Sele selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:2313600|PMID:19107136 20091002 RGD associated with Hypertension 3654 Sele selectin E gene DOID:2377 multiple sclerosis ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 3654 Sele selectin E gene DOID:2986 IgA glomerulonephritis ISO RGD:736831 D RGD:1625253|PMID:11828340 20070531 RGD DNA:SNP:exon:p.H468Y (human) 3654 Sele selectin E gene DOID:2986 IgA glomerulonephritis ISO RGD:736831 D RGD:8554872 20150721 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to PMID:11828340|PMID:16282702 3654 Sele selectin E gene DOID:3042 allergic contact dermatitis ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 3654 Sele selectin E gene DOID:3310 atopic dermatitis ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12410700 3654 Sele selectin E gene DOID:3393 coronary artery disease ISO RGD:736831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 3654 Sele selectin E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736831 D RGD:2313596|PMID:17578587 20091002 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) 3654 Sele selectin E gene DOID:630 genetic disease ISO RGD:736831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3654 Sele selectin E gene DOID:6713 cerebrovascular disease ISO RGD:736831 D RGD:2313597|PMID:16843446 20091002 RGD DNA:polymorphism: :561A>C (p.S128R) (human) 3654 Sele selectin E gene DOID:820 myocarditis ISO RGD:11283 D RGD:13702908|PMID:22268115 20180724 RGD 3654 Sele selectin E gene DOID:848 arthritis ISO RGD:11283 D RGD:1580041|PMID:16207337 19990101 RGD 3654 Sele selectin E gene DOID:8481 rheumatic myocarditis severity ISO RGD:736831 D RGD:13702907|PMID:22987107 20180724 RGD protein:increased expression:serum 3654 Sele selectin E gene DOID:9000808 Hypercholesterolemia ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 3654 Sele selectin E gene DOID:9000998 Brain Injuries IEP D RGD:2313599|PMID:19107536 20091002 RGD protein:increased expression:brain 3654 Sele selectin E gene DOID:9004009 Reperfusion Injury IEP D RGD:2313598|PMID:19489247 20091002 RGD 3654 Sele selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17112405|PMID:23743330 3654 Sele selectin E gene DOID:9007102 Myocardial Ischemia ISO RGD:736831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3654 Sele selectin E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736831 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 3654 Sele selectin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736831 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3654 Sele selectin E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736831 D RGD:2313595|PMID:18791689 20091002 RGD protein:increased expression:serum 3655 Sell selectin L gene DOID:0060180 colitis IMP D RGD:5685703|PMID:18054560 20120117 RGD 3655 Sell selectin L gene DOID:0080162 lupus nephritis ISO RGD:737030 D RGD:7175284|PMID:20512127 20121129 RGD 3655 Sell selectin L gene DOID:0080600 COVID-19 ISO RGD:1342543 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3655 Sell selectin L gene DOID:0081267 graft-versus-host disease ISO RGD:1342543 D RGD:5685693|PMID:21635226 20120117 RGD 3655 Sell selectin L gene DOID:10652 Alzheimer's disease severity ISO RGD:1342543 D RGD:5685677|PMID:21484243 20120116 RGD protein:decreased expression:plasma 3655 Sell selectin L gene DOID:14115 toxic shock syndrome IEP D RGD:5685700|PMID:19375498 20120117 RGD protein:increased expression:plasma 3655 Sell selectin L gene DOID:1540 parathyroid carcinoma ISO RGD:1342543 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3655 Sell selectin L gene DOID:1936 atherosclerosis ISO RGD:737030 D RGD:5685675|PMID:21760899 20120116 RGD 3655 Sell selectin L gene DOID:2773 contact dermatitis ISO RGD:737030 D RGD:5685684|PMID:20182448 20120116 RGD 3655 Sell selectin L gene DOID:2841 asthma ISO RGD:737030 D RGD:5685685|PMID:21437035 20120116 RGD 3655 Sell selectin L gene DOID:2841 asthma ISO RGD:737030 D RGD:5685696|PMID:21515793 20120117 RGD 3655 Sell selectin L gene DOID:289 endometriosis IEP D RGD:2303708|PMID:17845203 20090317 RGD mRNA:increased expression:endometrium 3655 Sell selectin L gene DOID:2986 IgA glomerulonephritis ISO RGD:1342543 D RGD:1625253|PMID:11828340 20121130 RGD 3655 Sell selectin L gene DOID:2986 IgA glomerulonephritis ISO RGD:1342543 D RGD:7175290|PMID:17452405 20121129 RGD 3655 Sell selectin L gene DOID:341 peripheral vascular disease IMP D RGD:2316357|PMID:17924279 20120117 RGD 3655 Sell selectin L gene DOID:4989 pancreatitis IEP D RGD:5685705|PMID:16214426 20120117 RGD 3655 Sell selectin L gene DOID:5844 myocardial infarction ISO RGD:1342543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 3655 Sell selectin L gene DOID:630 genetic disease ISO RGD:1342543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3655 Sell selectin L gene DOID:7693 abdominal aortic aneurysm IEP D RGD:5685707|PMID:15998669 20120117 RGD 3655 Sell selectin L gene DOID:783 end stage renal disease no_association ISO RGD:1342543 D RGD:7175303|PMID:22119815 20121130 RGD 3655 Sell selectin L gene DOID:8577 ulcerative colitis ISO RGD:1342543 D RGD:13464267|PMID:19212205 20180102 RGD DNA:polymorphism: :p.F206L (human) 3655 Sell selectin L gene DOID:8778 Crohn's disease ISO RGD:1342543 D RGD:13464267|PMID:19212205 20180102 RGD DNA:polymorphism: :p.F206L (human) 3655 Sell selectin L gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:5685697|PMID:22044737 20120117 RGD 3655 Sell selectin L gene DOID:9004009 Reperfusion Injury IEP D RGD:2313598|PMID:19489247 20120116 RGD 3655 Sell selectin L gene DOID:9004283 Transplant Rejection ISO RGD:1342543 D RGD:7175511|PMID:11095659 20121205 RGD 3655 Sell selectin L gene DOID:9004484 Sepsis IEP D RGD:5685706|PMID:16026013 20120117 RGD 3655 Sell selectin L gene DOID:9004484 Sepsis IMP D RGD:5686285|PMID:15677732 20120118 RGD 3655 Sell selectin L gene DOID:9004968 Yin Deficiency IEP D RGD:153350148|PMID:29729385 20220913 RGD protein:increased expression:serum 3655 Sell selectin L gene DOID:9005372 Inflammation ISO RGD:737030 D RGD:6480101|PMID:22391529 20120313 RGD protein:increased expression:uterine cervix, vagina 3655 Sell selectin L gene DOID:9006439 Electric Burns IMP D RGD:5685698|PMID:21641115 20120117 RGD 3655 Sell selectin L gene DOID:9007096 Stroke susceptibility ISO RGD:1342543 D RGD:5685695|PMID:21465128 20191121 RGD DNA:missense mutation:cds:p.P213S (human) 3655 Sell selectin L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1342543 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 3655 Sell selectin L gene DOID:9008884 Decompression Sickness IEP D RGD:5685701|PMID:18279101 20120117 RGD protein:increased expression:brain, lung, quadriceps 3655 Sell selectin L gene DOID:9074 systemic lupus erythematosus ISO RGD:1342543 D RGD:7175284|PMID:20512127 20121129 RGD 3655 Sell selectin L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342543 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3655 Sell selectin L gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342543 D RGD:7175303|PMID:22119815 20121130 RGD 3655 Sell selectin L gene DOID:9744 type 1 diabetes mellitus ISS RGD:737030 D RGD:13592920 20180518 MouseDO OMIM:222100 3656 Selp selectin P gene DOID:0060180 colitis IEP D RGD:2312310|PMID:19147805 20090805 RGD protein:increased expression:colon 3656 Selp selectin P gene DOID:0060903 thrombosis ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10544909 3656 Selp selectin P gene DOID:0080998 acute necrotizing pancreatitis IMP D RGD:2312307|PMID:19451746 20090805 RGD 3656 Selp selectin P gene DOID:0112313 brain small vessel disease ISO RGD:737162 D RGD:6296592|PMID:20885295 20120308 RGD protein:increased expression:platelet 3656 Selp selectin P gene DOID:10247 pleurisy ISO RGD:734150 D RGD:6219005|PMID:21147071 20120308 RGD protein:increased expression:lung 3656 Selp selectin P gene DOID:10247 pleurisy ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 3656 Selp selectin P gene DOID:10652 Alzheimer's disease severity ISO RGD:737162 D RGD:5685677|PMID:21484243 20120308 RGD protein:decreased expression:plasma 3656 Selp selectin P gene DOID:10763 hypertension ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15513305 3656 Selp selectin P gene DOID:10923 sickle cell anemia ISO RGD:734150 D RGD:6219007|PMID:21071696 20120308 RGD 3656 Selp selectin P gene DOID:1205 allergic disease ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12929084 3656 Selp selectin P gene DOID:12894 Sjogren's syndrome ISO RGD:737162 D RGD:6478702|PMID:19832990 20120308 RGD protein:increased expression:plasma 3656 Selp selectin P gene DOID:13378 Kawasaki disease ISO RGD:737162 D RGD:6478695|PMID:20079717 20120308 RGD 3656 Selp selectin P gene DOID:1540 parathyroid carcinoma ISO RGD:737162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3656 Selp selectin P gene DOID:1596 depressive disorder ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 3656 Selp selectin P gene DOID:1936 atherosclerosis IEP D RGD:6480102|PMID:22340239 20120313 RGD 3656 Selp selectin P gene DOID:1936 atherosclerosis ISO RGD:734150 D RGD:6478699|PMID:19834105 20120308 RGD protein:increased expression:aorta 3656 Selp selectin P gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737162 D RGD:6478682|PMID:20646456 20120308 RGD protein:increased expression:plasma 3656 Selp selectin P gene DOID:326 ischemia ISO RGD:734150 D RGD:6218989|PMID:21885854 20120308 RGD 3656 Selp selectin P gene DOID:3310 atopic dermatitis ISO RGD:737162 D RGD:1599904|PMID:12929084 20070222 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 3656 Selp selectin P gene DOID:3393 coronary artery disease ISO RGD:737162 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis 3656 Selp selectin P gene DOID:4780 anti-basement membrane glomerulonephritis IDA D RGD:6218988|PMID:21894146 20120308 RGD 3656 Selp selectin P gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737162 D RGD:6218986|PMID:22156911 20120308 RGD 3656 Selp selectin P gene DOID:5844 myocardial infarction IEP D RGD:6218991|PMID:21567088 20120308 RGD protein:increased expression:serum 3656 Selp selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:1580075|PMID:12165563 19990101 RGD DNA:polymorphisms, haplotypes:cds:p.S290N, p.N562D, p.T715P (human) 3656 Selp selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:6219003|PMID:21162967 20120308 RGD protein:increased expression:serum 3656 Selp selectin P gene DOID:5844 myocardial infarction susceptibility ISO RGD:737162 D RGD:2312304|PMID:17391113 20090805 RGD associated with Hypertension;protein:increased expression:plasma 3656 Selp selectin P gene DOID:6000 congestive heart failure IEP D RGD:2312309|PMID:19193626 20090805 RGD 3656 Selp selectin P gene DOID:630 genetic disease ISO RGD:737162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3656 Selp selectin P gene DOID:676 juvenile rheumatoid arthritis severity ISO RGD:737162 D RGD:6219006|PMID:21124648 20120308 RGD protein:increased expression:plasma 3656 Selp selectin P gene DOID:8577 ulcerative colitis ISO RGD:737162 D RGD:6218993|PMID:21526498 20120308 RGD protein:increased expression:serum 3656 Selp selectin P gene DOID:8805 intermediate coronary syndrome ISO RGD:737162 D RGD:6219003|PMID:21162967 20120308 RGD protein:increased expression:serum 3656 Selp selectin P gene DOID:9000528 Coronary Disease ISO RGD:737162 D RGD:1580074|PMID:11597943 19990101 RGD protein:altered expression:serum 3656 Selp selectin P gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737162 D RGD:1599904|PMID:12929084 20070222 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 3656 Selp selectin P gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2312308|PMID:19333758 20090805 RGD protein:increased expression:bone marrow 3656 Selp selectin P gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2312294|PMID:18471420 20090805 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney, serum 3656 Selp selectin P gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:737162 D RGD:2312302|PMID:18026823 20090805 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3656 Selp selectin P gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 3656 Selp selectin P gene DOID:9002514 Neointima treatment IMP D RGD:729766|PMID:12377736 20150324 RGD associated with Diabetes Mellitus, Type 2 3656 Selp selectin P gene DOID:9002850 Immediate Hypersensitivity ISO RGD:737162 D RGD:1599904|PMID:12929084 20070222 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 3656 Selp selectin P gene DOID:9003505 Venous Thromboembolism ISO RGD:737162 D RGD:6219001|PMID:21412059 20120308 RGD associated with HIV Infections;protein:increased expression:plasma 3656 Selp selectin P gene DOID:9004009 Reperfusion Injury IEP D RGD:2312314|PMID:18521901 20090805 RGD 3656 Selp selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:734150 D RGD:6218990|PMID:21701413 20120308 RGD 3656 Selp selectin P gene DOID:9004484 Sepsis ISO RGD:734150 D RGD:6478679|PMID:20690979 20120308 RGD protein:increased expression:multiple 3656 Selp selectin P gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:737162 D RGD:6478687|PMID:20179168 20120308 RGD 3656 Selp selectin P gene DOID:9005372 Inflammation ISO RGD:734150 D RGD:6480101|PMID:22391529 20120313 RGD protein:increased expression:uterine cervix, vagina 3656 Selp selectin P gene DOID:9006262 Cytomegalovirus Infections ISO RGD:734150 D RGD:6219000|PMID:21457388 20120308 RGD 3656 Selp selectin P gene DOID:9006646 Metabolic Syndrome ISO RGD:737162 D RGD:2312292|PMID:19061719 20090805 RGD 3656 Selp selectin P gene DOID:9006709 Primary Graft Dysfunction ISO RGD:737162 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 3656 Selp selectin P gene DOID:9007096 Stroke ISO RGD:734150 D RGD:6478688|PMID:20122276 20120308 RGD 3656 Selp selectin P gene DOID:9007102 Myocardial Ischemia ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3656 Selp selectin P gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737162 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 3656 Selp selectin P gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:6480105|PMID:21146547 20120313 RGD 3656 Selp selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 3656 Selp selectin P gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737162 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3656 Selp selectin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:737162 D RGD:2312303|PMID:17598012 20090805 RGD protein:increased expression:plasma 3656 Selp selectin P gene DOID:9970 obesity ISO RGD:737162 D RGD:2312291|PMID:19228864 20090805 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet 3657 Sema3a semaphorin 3A gene DOID:0050834 CHARGE syndrome ISO RGD:730921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 3657 Sema3a semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:7240710 20150304 OMIM 3657 Sema3a semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia PMID:22416012|PMID:22927827|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32060892|PMID:32870266 3657 Sema3a semaphorin 3A gene DOID:0111586 Martsolf syndrome 1 ISO RGD:730921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:22927827|PMID:25741868 3657 Sema3a semaphorin 3A gene DOID:13938 amenorrhea ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22927827|PMID:28492532|PMID:32870266 3657 Sema3a semaphorin 3A gene DOID:1826 epilepsy ISO RGD:730921 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 3657 Sema3a semaphorin 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730921 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3657 Sema3a semaphorin 3A gene DOID:5419 schizophrenia ISO RGD:730921 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3657 Sema3a semaphorin 3A gene DOID:630 genetic disease ISO RGD:730921 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3657 Sema3a semaphorin 3A gene DOID:9001239 Delayed Puberty ISO RGD:730921 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532 3657 Sema3a semaphorin 3A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730921 D RGD:11554173 20210413 CTD CTD Direct Evidence: therapeutic PMID:33290778 3658 Sema4f ssemaphorin 4F gene DOID:1790 malignant mesothelioma ISO RGD:735857 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3658 Sema4f ssemaphorin 4F gene DOID:630 genetic disease ISO RGD:735857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3659 Sema6c semaphorin 6C gene DOID:0111940 immunodeficiency 42 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 3659 Sema6c semaphorin 6C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 3659 Sema6c semaphorin 6C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 3659 Sema6c semaphorin 6C gene DOID:1540 parathyroid carcinoma ISO RGD:732717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3659 Sema6c semaphorin 6C gene DOID:5812 MHC class II deficiency ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3659 Sema6c semaphorin 6C gene DOID:630 genetic disease ISO RGD:732717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3659 Sema6c semaphorin 6C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732717 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3660 Selenop selenoprotein P gene DOID:0050860 colorectal adenoma ISO RGD:737591 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:decreased expression:colorectum (human) 3660 Selenop selenoprotein P gene DOID:0080199 colorectal carcinoma ISO RGD:737591 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:decreased expression:colorectum (human) 3660 Selenop selenoprotein P gene DOID:12336 male infertility ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961124 3660 Selenop selenoprotein P gene DOID:1289 neurodegenerative disease ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 3660 Selenop selenoprotein P gene DOID:289 endometriosis ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 3660 Selenop selenoprotein P gene DOID:305 carcinoma ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3660 Selenop selenoprotein P gene DOID:657 adenoma ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 3660 Selenop selenoprotein P gene DOID:863 nervous system disease ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14704310|PMID:17961124 3660 Selenop selenoprotein P gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3660 Selenop selenoprotein P gene DOID:9001191 Cadmium Poisoning ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 3660 Selenop selenoprotein P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3660 Selenop selenoprotein P gene DOID:9002304 Prostatic Neoplasms ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12235003 3660 Selenop selenoprotein P gene DOID:9002955 Nerve Degeneration ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 3660 Selenop selenoprotein P gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737591 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3660 Selenop selenoprotein P gene DOID:9005172 Lung Neoplasms ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19058871 3660 Selenop selenoprotein P gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 3660 Selenop selenoprotein P gene DOID:9007692 Insulin Resistance ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 3660 Selenop selenoprotein P gene DOID:9008443 Colorectal Neoplasms ISO RGD:737591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 3661 Selenow selenoprotein W gene DOID:1826 epilepsy ISO RGD:737006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 3661 Selenow selenoprotein W gene DOID:630 genetic disease ISO RGD:737006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3661 Selenow selenoprotein W gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:733441 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:16249883 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:10283 prostate cancer ISO RGD:733441 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:10652 Alzheimer's disease ISO RGD:733441 D RGD:10412676|PMID:11208906 20151120 RGD protein:increased expression:CA1 field of hippocampus: 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:733441 D RGD:13838853 20190122 RGD DNA:SNP:intron: (rs2589506) (human) 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:6000 congestive heart failure ISO RGD:733441 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:630 genetic disease ISO RGD:733441 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:9001793 Generalized Epilepsy ISO RGD:733441 D RGD:8554872 20170131 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 3663 Mapk10 mitogen activated protein kinase 10 gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:733441 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY PMID:25741868 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:1612 breast cancer severity ISO RGD:734021 D RGD:11039450|PMID:17651715 20160303 RGD mRNA:increased expression:breast (human) 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:234 colon adenocarcinoma ISO RGD:734021 D RGD:11039405|PMID:9865741 20160304 RGD mRNA:decreased expression:colon mucosa (human) 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:3602 toxic encephalopathy ISO RGD:734021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:409 liver disease ISO RGD:734021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:734021 D RGD:11039407|PMID:21082031 20160303 RGD mRNA:altered expression:kidney (human) 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:630 genetic disease ISO RGD:734021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3664 Srsf5 serine and arginine rich splicing factor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734021 D RGD:11039469|PMID:23748175 20160304 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) 3665 Sftpa1 surfactant protein A1 gene DOID:0050127 sinusitis ISO RGD:736369 D RGD:4143506|PMID:17599561 20100927 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa 3665 Sftpa1 surfactant protein A1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736369 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to PMID:13680361|PMID:24033266|PMID:25741868 3665 Sftpa1 surfactant protein A1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:736369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:25741868 3665 Sftpa1 surfactant protein A1 gene DOID:11339 pneumocystosis ISO RGD:1552674 D RGD:4143431|PMID:11385364 20100923 RGD protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736369 D RGD:4143379|PMID:17662121 20100922 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736369 D RGD:4143436|PMID:10588595 20100923 RGD protein:increased expression:serum 3665 Sftpa1 surfactant protein A1 gene DOID:11396 pulmonary edema susceptibility ISO RGD:736369 D RGD:4144872|PMID:16162765 20101020 RGD DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human) 3665 Sftpa1 surfactant protein A1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:736369 D RGD:4143384|PMID:17264398 20100922 RGD DNA:snps, haplotypes:multiple (human) 3665 Sftpa1 surfactant protein A1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:736369 D RGD:4144876|PMID:11105614 20101020 RGD DNA:polymorphisms, haplotype: (human) 3665 Sftpa1 surfactant protein A1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1552674 D RGD:4143454|PMID:7654386 20100923 RGD protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:736369 D RGD:4143450|PMID:8652189 20100923 RGD protein:altered polymerization:lung 3665 Sftpa1 surfactant protein A1 gene DOID:12120 pulmonary alveolar proteinosis severity ISO RGD:736369 D RGD:4143411|PMID:12612307 20100923 RGD protein:increased expression:blood 3665 Sftpa1 surfactant protein A1 gene DOID:12716 newborn respiratory distress syndrome IEP D RGD:4143428|PMID:11504697 20100923 RGD protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:736369 D RGD:4143433|PMID:11063734 20100923 RGD DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) 3665 Sftpa1 surfactant protein A1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736369 D RGD:4143439|PMID:10194154 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:736369 D RGD:4143495|PMID:19287351 20100924 RGD DNA:polymorphisms, haplotype: (human) 3665 Sftpa1 surfactant protein A1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:736369 D RGD:4143437|PMID:10543276 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:1485 cystic fibrosis ISO RGD:736369 D RGD:4143403|PMID:15271694 20100922 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:2841 asthma IEP D RGD:4143398|PMID:15816355 20100922 RGD protein:decreased expression:lung, Clara cell, pneumocyte 3665 Sftpa1 surfactant protein A1 gene DOID:2841 asthma IEP D RGD:4143516|PMID:18802356 20100928 RGD mRNA, protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:2841 asthma ISO RGD:1552674 D RGD:4143289|PMID:18926058 20100921 RGD 3665 Sftpa1 surfactant protein A1 gene DOID:2841 asthma ISO RGD:736369 D RGD:4143462|PMID:16629790 20100924 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736369 D RGD:4144874|PMID:16292672 20101020 RGD DNA:SNPs:exons:307G>A, 776C>T (human) 3665 Sftpa1 surfactant protein A1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736369 D RGD:4144875|PMID:12476938 20101020 RGD DNA:SNP:intron:1416C>T (human) 3665 Sftpa1 surfactant protein A1 gene DOID:3082 interstitial lung disease ISO RGD:736369 D RGD:4143430|PMID:11445799 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:3082 interstitial lung disease ISO RGD:736369 D RGD:4143449|PMID:9216212 20100923 RGD protein:increased expression:serum 3665 Sftpa1 surfactant protein A1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736369 D RGD:4143281|PMID:19797132 20101020 RGD DNA:SNP:cds:p.L50V (human) 3665 Sftpa1 surfactant protein A1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736369 D RGD:4143288|PMID:19367700 20100921 RGD protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736369 D RGD:4143423|PMID:11589345 20100923 RGD DNA:polymorphism:cds:c.186G>A (human) 3665 Sftpa1 surfactant protein A1 gene DOID:3770 pulmonary fibrosis ISO RGD:736369 D RGD:4143437|PMID:10543276 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:736369 D RGD:4144870|PMID:19347046 20101020 RGD mRNA:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736369 D RGD:4143409|PMID:13680361 20100923 RGD DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) 3665 Sftpa1 surfactant protein A1 gene DOID:3827 congenital diaphragmatic hernia treatment IEP D RGD:151667435|PMID:11051153 20220408 RGD 3665 Sftpa1 surfactant protein A1 gene DOID:552 pneumonia ISO RGD:1552674 D RGD:4143394|PMID:15967375 20100922 RGD 3665 Sftpa1 surfactant protein A1 gene DOID:552 pneumonia ISO RGD:736369 D RGD:4143452|PMID:8542113 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:630 genetic disease ISO RGD:736369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3665 Sftpa1 surfactant protein A1 gene DOID:841 extrinsic allergic alveolitis ISO RGD:736369 D RGD:4143437|PMID:10543276 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:850 lung disease IEP D RGD:4143446|PMID:9374572 20100923 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:850 lung disease IEP D RGD:4143505|PMID:17616020 20100927 RGD Lung Injury 3665 Sftpa1 surfactant protein A1 gene DOID:850 lung disease ISO RGD:736369 D RGD:4143448|PMID:9230741 20100923 RGD associated with Cystic Fibrosis;protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:850 lung disease ISO RGD:736369 D RGD:4144871|PMID:16429424 20101020 RGD associated with Cystic Fibrosis 3665 Sftpa1 surfactant protein A1 gene DOID:874 bacterial pneumonia IEP D RGD:4143464|PMID:12169586 20100924 RGD protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736369 D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Respiratory distress associated with prematurity PMID:24033266|PMID:25741868 3665 Sftpa1 surfactant protein A1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552674 D RGD:4143407|PMID:14748931 20100922 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:9002918 Interstitial Lung Disease 1 ISO RGD:736369 D RGD:7240710 20211201 OMIM 3665 Sftpa1 surfactant protein A1 gene DOID:9002918 Interstitial Lung Disease 1 ISO RGD:736369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 1 PMID:24033266|PMID:25741868|PMID:26792177|PMID:30854216|PMID:31601679|PMID:32855221 3665 Sftpa1 surfactant protein A1 gene DOID:9004610 Acute Lung Injury ISO RGD:736369 D RGD:4143451|PMID:8569184 20100923 RGD mRNA, protein:increased expression:pneumocyte 3665 Sftpa1 surfactant protein A1 gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:1552674 D RGD:4143489|PMID:20413160 20100924 RGD 3665 Sftpa1 surfactant protein A1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:736369 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB PMID:25741868 3665 Sftpa1 surfactant protein A1 gene DOID:9007073 Cough susceptibility ISO RGD:736369 D RGD:4144873|PMID:17407567 20101020 RGD DNA:SNPs, haplotypes:cds:multiple (human) 3665 Sftpa1 surfactant protein A1 gene DOID:9007480 Hyperoxia IEP D RGD:4143387|PMID:16620381 20100922 RGD mRNA:increased expression:bronchus, Clara cell 3665 Sftpa1 surfactant protein A1 gene DOID:9007480 Hyperoxia IEP D RGD:4143429|PMID:11472975 20100923 RGD mRNA, protein:increased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:9008386 Hydrops Fetalis ISO RGD:736369 D RGD:4143453|PMID:7590701 20100923 RGD protein:decreased expression:lung 3665 Sftpa1 surfactant protein A1 gene DOID:9970 obesity IEP D RGD:4143472|PMID:15136884 20100924 RGD protein:increased expression:lung 3666 Sftpc surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 3666 Sftpc surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23025826|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532 3666 Sftpc surfactant protein C gene DOID:0050158 desquamative interstitial pneumonia ISS RGD:733829 D RGD:13592920 20180518 MouseDO OMIM:263000 3666 Sftpc surfactant protein C gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:736728 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii 3666 Sftpc surfactant protein C gene DOID:11339 pneumocystosis ISO RGD:733829 D RGD:4143431|PMID:11385364 20100923 RGD protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:4143379|PMID:17662121 20100922 RGD protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:4144159|PMID:9720777 20101008 RGD 3666 Sftpc surfactant protein C gene DOID:11612 polycystic ovary syndrome ISO RGD:736728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 3666 Sftpc surfactant protein C gene DOID:12053 cryptococcosis ISO RGD:733829 D RGD:38549345|PMID:27596810 20200827 RGD mRNA:increased expression:lung (mouse) 3666 Sftpc surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:736728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868|PMID:28492532 3666 Sftpc surfactant protein C gene DOID:12716 newborn respiratory distress syndrome IEP D RGD:4143428|PMID:11504697 20100923 RGD mRNA, protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:4144127|PMID:7537464 20101006 RGD protein:altered processing:amniotic fluid, lung 3666 Sftpc surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733829 D RGD:4144065|PMID:19304906 20100930 RGD 3666 Sftpc surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736728 D RGD:4144116|PMID:17121584 20101005 RGD DNA:polymorphism: :138A>C, 186A>G (human) 3666 Sftpc surfactant protein C gene DOID:1485 cystic fibrosis ISO RGD:736728 D RGD:4143403|PMID:15271694 20100922 RGD protein:increased expression:lung 3666 Sftpc surfactant protein C gene DOID:2841 asthma ISO RGD:733829 D RGD:4143465|PMID:11472974 20100924 RGD mRNA, protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:2841 asthma ISO RGD:736728 D RGD:4143462|PMID:16629790 20100924 RGD protein:increased expression:lung 3666 Sftpc surfactant protein C gene DOID:2841 asthma susceptibility ISO RGD:736728 D RGD:4144063|PMID:19910179 20100930 RGD DNA:polymorphism: :p.A53T (human) 3666 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:733829 D RGD:4143413|PMID:12519727 20100923 RGD 3666 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:4143400|PMID:15756222 20100922 RGD DNA:missense mutation:exon:p.I73T (human) 3666 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:4143430|PMID:11445799 20100923 RGD protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:4144064|PMID:19443464 20100930 RGD DNA:mutations: :multiple (human) 3666 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease susceptibility ISO RGD:736728 D RGD:4144126|PMID:16423270 20101006 RGD DNA:polymorphism:exon:p.N186S (human) 3666 Sftpc surfactant protein C gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736728 D RGD:4144115|PMID:18038590 20101005 RGD DNA:polymorphism: :186A>G (human) 3666 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:733829 D RGD:4144124|PMID:16251411 20101006 RGD 3666 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264 3666 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736728 D RGD:4144060|PMID:20656946 20100930 RGD DNA:polymorphisms: :p.M71V, p.I73T (human) 3666 Sftpc surfactant protein C gene DOID:3910 lung adenocarcinoma ISO RGD:736728 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 3666 Sftpc surfactant protein C gene DOID:423 myopathy ISO RGD:736728 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 3666 Sftpc surfactant protein C gene DOID:552 pneumonia ISO RGD:733829 D RGD:4143394|PMID:15967375 20100922 RGD 3666 Sftpc surfactant protein C gene DOID:630 genetic disease ISO RGD:733829 D RGD:4143399|PMID:15790974 20100922 RGD Hermansky-Pudlak syndrome;protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:630 genetic disease ISO RGD:736728 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22308375 3666 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:733829 D RGD:4143420|PMID:11796659 20100923 RGD Lung Injury 3666 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:1624153|PMID:11207353 20070503 RGD surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human) 3666 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:4143451|PMID:8569184 20100923 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte 3666 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:4144117|PMID:16910460 20101005 RGD DNA:missense mutation:exon:p.I73T (human) 3666 Sftpc surfactant protein C gene DOID:874 bacterial pneumonia IEP D RGD:4143464|PMID:12169586 20100924 RGD 3666 Sftpc surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:733829 D RGD:4144114|PMID:18566429 20101005 RGD 3666 Sftpc surfactant protein C gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736728 D RGD:4143444|PMID:9655740 20100923 RGD 3666 Sftpc surfactant protein C gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:733829 D RGD:4143407|PMID:14748931 20100922 RGD protein:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:736728 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 3666 Sftpc surfactant protein C gene DOID:9003953 Surfactant Dysfunction ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15557112|PMID:15572558|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20463293|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:22458263|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28157837|PMID:28492532|PMID:29805340|PMID:31081264 3666 Sftpc surfactant protein C gene DOID:9004009 Reperfusion Injury IDA D RGD:4144062|PMID:20560845 20100930 RGD mRNA:decreased expression:lung 3666 Sftpc surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:7240710 20130221 OMIM 3666 Sftpc surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:13817571|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15572558|PMID:15647591|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:23025826|PMID:23166334|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25105258|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532|PMID:29554876|PMID:31081264|PMID:5942662 3666 Sftpc surfactant protein C gene DOID:9007480 Hyperoxia IEP D RGD:4143429|PMID:11472975 20100923 RGD mRNA:increased expression:lung 3666 Sftpc surfactant protein C gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 3666 Sftpc surfactant protein C gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10751355 3666 Sftpc surfactant protein C gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736728 D RGD:4144115|PMID:18038590 20101005 RGD DNA:polymorphism: :138A>C, 186A>G (human) 3667 Sftpd surfactant protein D gene DOID:0050127 sinusitis ISO RGD:735702 D RGD:4143506|PMID:17599561 20100927 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa 3667 Sftpd surfactant protein D gene DOID:0060071 pre-malignant neoplasm ISO RGD:735702 D RGD:4143498|PMID:18779194 20100924 RGD protein:decreased expression:lung 3667 Sftpd surfactant protein D gene DOID:0080599 Coronavirus infectious disease IEP D RGD:4143520|PMID:19741068 20100928 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:11335 sarcoidosis ISO RGD:735702 D RGD:4143491|PMID:20151281 20100924 RGD associated with Uveitis;protein:increased expression:serum 3667 Sftpd surfactant protein D gene DOID:11339 pneumocystosis ISO RGD:11287 D RGD:4143431|PMID:11385364 20100923 RGD protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:11394 adult respiratory distress syndrome ISO RGD:735702 D RGD:4143436|PMID:10588595 20100923 RGD protein:increased expression:serum 3667 Sftpd surfactant protein D gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735702 D RGD:4143384|PMID:17264398 20100922 RGD 3667 Sftpd surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:4143461|PMID:16849999 20100924 RGD associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:4143497|PMID:19046553 20100924 RGD protein:increased expression:blood, lung 3667 Sftpd surfactant protein D gene DOID:12716 newborn respiratory distress syndrome IEP D RGD:4143428|PMID:11504697 20100923 RGD protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:735702 D RGD:4143507|PMID:17524024 20100927 RGD DNA:SNP: :p.A160T (human) 3667 Sftpd surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735702 D RGD:4143439|PMID:10194154 20100923 RGD protein:decreased expression:lung 3667 Sftpd surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735702 D RGD:4143495|PMID:19287351 20100924 RGD DNA:polymorphisms: :p.M11T, p.A160T (human 3667 Sftpd surfactant protein D gene DOID:1485 cystic fibrosis ISO RGD:735702 D RGD:4143502|PMID:18211966 20100927 RGD protein:decreased expression, altered degradation:lung 3667 Sftpd surfactant protein D gene DOID:2799 bronchiolitis obliterans ISO RGD:735702 D RGD:4143500|PMID:18347569 20100927 RGD 3667 Sftpd surfactant protein D gene DOID:2841 asthma IEP D RGD:4143516|PMID:18802356 20100928 RGD mRNA, protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:11287 D RGD:4143465|PMID:11472974 20100924 RGD protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:4143462|PMID:16629790 20100924 RGD protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:4143508|PMID:16839409 20100927 RGD 3667 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:4143517|PMID:18266831 20100928 RGD associated with Bronchitis;protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:2914 immune system disease ISO RGD:11287 D RGD:4143286|PMID:19201882 20100921 RGD associated with Pneumonia, Pneumocystis carinii;protein:increased expression, increased nitrosylation:lung 3667 Sftpd surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:4143449|PMID:9216212 20100923 RGD protein:increased expression:serum 3667 Sftpd surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:4143496|PMID:19286849 20100924 RGD associated with Scleroderma, Systemic;protein:increased expression:serum 3667 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 3667 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:4143281|PMID:19797132 20100921 RGD DNA:SNP: :p.A160T (human) 3667 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:4143501|PMID:18310480 20100927 RGD 3667 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735702 D RGD:4143492|PMID:20075511 20100924 RGD protein:increased expression:serum 3667 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735702 D RGD:4143487|PMID:20448057 20100924 RGD DNA:SNPs: :multiple (human) 3667 Sftpd surfactant protein D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735702 D RGD:4143490|PMID:20401612 20100924 RGD 3667 Sftpd surfactant protein D gene DOID:4483 rhinitis susceptibility ISO RGD:735702 D RGD:4143494|PMID:19493231 20100924 RGD associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) 3667 Sftpd surfactant protein D gene DOID:552 pneumonia ISO RGD:11287 D RGD:4143394|PMID:15967375 20100922 RGD 3667 Sftpd surfactant protein D gene DOID:552 pneumonia ISO RGD:11287|RGD:735702 D RGD:4143504|PMID:17925426 20100927 RGD 3667 Sftpd surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:4143517|PMID:18266831 20100928 RGD associated with Bronchitis;protein:decreased expression:lung 3667 Sftpd surfactant protein D gene DOID:630 genetic disease ISO RGD:735702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3667 Sftpd surfactant protein D gene DOID:850 lung disease IEP D RGD:4143505|PMID:17616020 20100927 RGD Lung Injury 3667 Sftpd surfactant protein D gene DOID:850 lung disease ISO RGD:11287 D RGD:4143256|PMID:20639460 20100924 RGD associated with Endotoxemia 3667 Sftpd surfactant protein D gene DOID:850 lung disease ISO RGD:735702 D RGD:4143503|PMID:17974096 20100927 RGD Acute Lung Injury 3667 Sftpd surfactant protein D gene DOID:850 lung disease disease_progression ISO RGD:735702 D RGD:4143488|PMID:20435656 20100924 RGD Acute Lung Injury;protein:increased expression:plasma 3667 Sftpd surfactant protein D gene DOID:874 bacterial pneumonia IEP D RGD:4143464|PMID:12169586 20100924 RGD protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:735702 D RGD:4143403|PMID:15271694 20100922 RGD associated with Cystic Fibrosis;protein:decreased expression:lung 3667 Sftpd surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity IDA D RGD:4144051|PMID:12882759 20100930 RGD 3667 Sftpd surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11287 D RGD:4143407|PMID:14748931 20100922 RGD protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:9001488 Human Influenza IMP D RGD:4143518|PMID:16787926 20100928 RGD 3667 Sftpd surfactant protein D gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:11287 D RGD:4143519|PMID:16255775 20100928 RGD 3667 Sftpd surfactant protein D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735702 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3667 Sftpd surfactant protein D gene DOID:9004610 Acute Lung Injury ISO RGD:735702 D RGD:11554173 20181225 CTD CTD Direct Evidence: therapeutic PMID:30060251 3667 Sftpd surfactant protein D gene DOID:9005172 Lung Neoplasms ISO RGD:735702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14522914|PMID:15136449 3667 Sftpd surfactant protein D gene DOID:9005724 Fungal Lung Diseases ISO RGD:735702 D RGD:4143489|PMID:20413160 20100924 RGD 3667 Sftpd surfactant protein D gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:11287 D RGD:4143489|PMID:20413160 20100924 RGD 3667 Sftpd surfactant protein D gene DOID:9007480 Hyperoxia IEP D RGD:4143429|PMID:11472975 20100923 RGD mRNA, protein:increased expression:lung 3667 Sftpd surfactant protein D gene DOID:9007480 Hyperoxia IMP D RGD:4143499|PMID:18635887 20100924 RGD 3667 Sftpd surfactant protein D gene DOID:9007480 Hyperoxia resistance ISO RGD:11287 D RGD:4143385|PMID:17158597 20100922 RGD 3667 Sftpd surfactant protein D gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735702 D RGD:4143486|PMID:20459699 20100924 RGD 3667 Sftpd surfactant protein D gene DOID:9074 systemic lupus erythematosus ISO RGD:735702 D RGD:4143493|PMID:19833760 20100924 RGD protein:decreased expression:serum 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731028 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension no_association ISO RGD:731028 D RGD:1580969|PMID:15304560 20071012 RGD 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension susceptibility ISO RGD:731028 D RGD:1580968|PMID:16221215 19990101 RGD DNA:snps:exon, intron: (human) 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:1580967|PMID:15046873 19990101 RGD mRNA:increased expression:hippocampus, pyramidal cell 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:2999 granulosa cell tumor ISO RGD:731028 D RGD:2289157|PMID:11994539 20080422 RGD 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:305 carcinoma ISO RGD:731028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:3114 serous cystadenocarcinoma ISO RGD:731028 D RGD:2289157|PMID:11994539 20080422 RGD 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:731028 D RGD:2289157|PMID:11994539 20080422 RGD 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:4676 uremia ISO RGD:731028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18768591 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:630 genetic disease ISO RGD:731028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9538 multiple myeloma ISO RGD:731028 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 3668 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:731028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 3669 Scg5 secretogranin V gene DOID:0050902 medulloblastoma ISO RGD:731406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17334394 3669 Scg5 secretogranin V gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:731406 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:25741868 3669 Scg5 secretogranin V gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:731406 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:22561515 3669 Scg5 secretogranin V gene DOID:2717 Bloom syndrome ISO RGD:731406 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3669 Scg5 secretogranin V gene DOID:3946 pituitary-dependent Cushing's disease ISS RGD:731407 D RGD:13592920 20180518 MouseDO 3669 Scg5 secretogranin V gene DOID:630 genetic disease ISO RGD:731406 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3669 Scg5 secretogranin V gene DOID:9008443 Colorectal Neoplasms ISO RGD:731406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18084292 3669 Scg5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532|PMID:29804199 3669 Scg5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 3671 Shbg sex hormone binding globulin gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 3671 Shbg sex hormone binding globulin gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 3671 Shbg sex hormone binding globulin gene DOID:12177 common variable immunodeficiency ISO RGD:736172 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 3671 Shbg sex hormone binding globulin gene DOID:12930 dilated cardiomyopathy ISO RGD:736172 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:25996886 3671 Shbg sex hormone binding globulin gene DOID:1380 endometrial cancer ISO RGD:736172 D RGD:1625245|PMID:17315164 20070530 RGD DNA:polymorphism:exon:p.D327N (human) 3671 Shbg sex hormone binding globulin gene DOID:1574 alcohol use disorder ISO RGD:736172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 3671 Shbg sex hormone binding globulin gene DOID:1790 malignant mesothelioma ISO RGD:736172 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 3671 Shbg sex hormone binding globulin gene DOID:1875 impotence ISO RGD:736172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17961146 3671 Shbg sex hormone binding globulin gene DOID:2729 dyskeratosis congenita ISO RGD:736172 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 3671 Shbg sex hormone binding globulin gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 3671 Shbg sex hormone binding globulin gene DOID:630 genetic disease ISO RGD:736172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3671 Shbg sex hormone binding globulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:736172 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:17220347 3671 Shbg sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968811|PMID:17992261 3671 Shbg sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:2313785|PMID:17884445 20091015 RGD protein:decreased expression:serum 3671 Shbg sex hormone binding globulin gene DOID:9351 diabetes mellitus ISO RGD:736172 D RGD:2313784|PMID:18346991 20091015 RGD protein:increased expression:plasma 3671 Shbg sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21982312 3671 Shbg sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736172 D RGD:2313782|PMID:19657112 20091015 RGD DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) 3673 Shh sonic hedgehog signaling molecule gene DOID:0050651 atrioventricular septal defect ISO RGD:736830 D RGD:12801428|PMID:19538633 20170330 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736829 D RGD:12801414|PMID:12926841 20170329 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:736829 D RGD:11561296|PMID:26691363 20170331 RGD protein:increased expression:serum 3673 Shh sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder severity ISO RGD:736829 D RGD:12801412|PMID:21984201 20170329 RGD protein:increased expression:serum 3673 Shh sonic hedgehog signaling molecule gene DOID:0060071 pre-malignant neoplasm IEP D RGD:150520178|PMID:30537251 20211101 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:0060857 septooptic dysplasia ISO RGD:736829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 3673 Shh sonic hedgehog signaling molecule gene DOID:0080171 esophageal atresia/tracheoesophageal fistula IEP D RGD:12801416|PMID:25003913 20170329 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:0080855 Parkinsonism treatment IMP D RGD:12859032|PMID:25030123 20170411 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:7240710 20130425 OMIM 3673 Shh sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10479723|PMID:10556296|PMID:10631160|PMID:10749657|PMID:11471164|PMID:11479728|PMID:11857543|PMID:11919111|PMID:12503095|PMID:12567406|PMID:12709790|PMID:15107988|PMID:15292211|PMID:15942944|PMID:15942952|PMID:16199547|PMID:16254195|PMID:16282375|PMID:18655123|PMID:19057928|PMID:19478089|PMID:19533790|PMID:19561609|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:21940735|PMID:21976454|PMID:22354285|PMID:22683912|PMID:22791840|PMID:22859937|PMID:22897141|PMID:23370340|PMID:23476075|PMID:24033266|PMID:24095820|PMID:25569381|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28284480|PMID:28492532|PMID:28518168|PMID:28588853|PMID:29205322|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32022405|PMID:32461654|PMID:32677110|PMID:32939873|PMID:8896572|PMID:9302262|PMID:9600232 3673 Shh sonic hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:736830 D RGD:12798572|PMID:15841179 20170328 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:7240710 20130221 OMIM 3673 Shh sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:11471164|PMID:12567406|PMID:15103725|PMID:15292211|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 3673 Shh sonic hedgehog signaling molecule gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:736829 D RGD:12801438|PMID:19847792 20170330 RGD DNA:point mutations:enhancer:404G>A, 404G>C (human) 3673 Shh sonic hedgehog signaling molecule gene DOID:0111818 syndactyly type 4 ISO RGD:736829 D RGD:12801418|PMID:18417549 20170329 RGD DNA:duplication:enhancer 3673 Shh sonic hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:736829 D RGD:12801434|PMID:20972907 20170330 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:736829 D RGD:150523844|PMID:22456124 20211123 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:10629 microphthalmia ISO RGD:736829 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31690747|PMID:32472575 3673 Shh sonic hedgehog signaling molecule gene DOID:10976 membranous glomerulonephritis ISO RGD:736829 D RGD:12859042|PMID:24744439 20170411 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736829 D RGD:12801449|PMID:22903933 20170331 RGD DNA:point mutation:enhancer:g.106954C>T (human) 3673 Shh sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736830 D RGD:12801421|PMID:14597572 20170329 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736830 D RGD:12801429|PMID:10021368 20170330 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:12849 autistic disorder ISO RGD:736829 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3673 Shh sonic hedgehog signaling molecule gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736829 D RGD:12859042|PMID:24744439 20170411 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:13548 secondary Parkinson disease ISO RGD:736829 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11771942 3673 Shh sonic hedgehog signaling molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:736829 D RGD:12802349|PMID:25746691 20170405 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:1459 hypothyroidism IEP D RGD:2306294|PMID:18827446 20090403 RGD mRNA:decreased expression:cerebellum 3673 Shh sonic hedgehog signaling molecule gene DOID:14679 VACTERL association IEP D RGD:12801426|PMID:12632369 20170330 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:1793 pancreatic cancer ISO RGD:736829 D RGD:5490965|PMID:19506583 20110926 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:2377 multiple sclerosis ISO RGD:736829 D RGD:12801440|PMID:18991353 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:736830 D RGD:12802345|PMID:9115210 20170405 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISS RGD:736830 D RGD:13592920 20220915 MouseDO OMIM:109400 3673 Shh sonic hedgehog signaling molecule gene DOID:2513 basal cell carcinoma ISO RGD:736829 D RGD:12801452|PMID:23284750 20170331 RGD DNA, protein:hypermethylation, decreased expression:skin of body 3673 Shh sonic hedgehog signaling molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:736829 D RGD:12859042|PMID:24744439 20170411 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:3213 demyelinating disease treatment ISO RGD:736830 D RGD:12801445|PMID:15128833 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy IEP D RGD:12859046|PMID:21376786 20170411 RGD protein:increased expression:hippocampus, temporal cortex 3673 Shh sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:736829 D RGD:12859046|PMID:21376786 20170411 RGD protein:increased expression:temporal cortex 3673 Shh sonic hedgehog signaling molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:736829 D RGD:12879461|PMID:22324418 20170420 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15107988|PMID:17525797|PMID:23264560|PMID:27585885|PMID:31642701 3673 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:12798570|PMID:10441331 20170328 RGD DNA:missense mutations, non-sense mutation:exon:multiple 3673 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:12801425|PMID:11919111 20170329 RGD DNA:missense mutation:CDS:p.V88D (263A>T) (human) 3673 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:29584859 3673 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:9743971|PMID:8896572 19990101 RGD DNA:mutations:cds:multiple (human) 3673 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly treatment ISO RGD:736830 D RGD:12801437|PMID:18338389 20170330 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:5199 ureteral obstruction ISO RGD:736830 D RGD:12859047|PMID:22302193 20170411 RGD mRNA, protein:increased expression:nephron tubule epithelium 3673 Shh sonic hedgehog signaling molecule gene DOID:5844 myocardial infarction treatment IMP D RGD:12879408|PMID:20052412 20170418 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479728|PMID:15292211|PMID:19603532|PMID:23476075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 3673 Shh sonic hedgehog signaling molecule gene DOID:674 cleft palate ISO RGD:736830 D RGD:12801424|PMID:17097601 20170329 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:684 hepatocellular carcinoma ISO RGD:736829 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 3673 Shh sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease IEP D RGD:12859042|PMID:24744439 20170411 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:736830 D RGD:12859042|PMID:24744439 20170411 RGD mRNA, protein:increased expression:kidney 3673 Shh sonic hedgehog signaling molecule gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:12879409|PMID:24837681 20170418 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9000392 Fluoride Poisoning IEP D RGD:12879410|PMID:25623978 20170418 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:12859044|PMID:23933201 20170411 RGD mRNA, protein:increased expression:brain 3673 Shh sonic hedgehog signaling molecule gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:12879407|PMID:22994531 20170418 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9001276 Failure to Thrive ISO RGD:736829 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 3673 Shh sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations IEP D RGD:1599527|PMID:17161201 20170208 RGD mRNA:decreased expression:hindgut 3673 Shh sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:736829 D RGD:12798569|PMID:25148746 20170328 RGD DNA, protein:hypermethylation, decreased expression:promoter, rectum 3673 Shh sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations severity ISO RGD:736829 D RGD:12798571|PMID:20146882 20170328 RGD mRNA, protein:decreased expression:rectum 3673 Shh sonic hedgehog signaling molecule gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:12879456|PMID:25821409 20170420 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:12801423|PMID:15892298 20170329 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736830 D RGD:12801440|PMID:18991353 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:736829 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 3673 Shh sonic hedgehog signaling molecule gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:736829 D RGD:12801418|PMID:18417549 20170329 RGD DNA:duplication:enhancer 3673 Shh sonic hedgehog signaling molecule gene DOID:9004237 Hyperoxic Lung Injury IEP D RGD:12859031|PMID:22641469 20170411 RGD mRNA, protein:increased expression:lung 3673 Shh sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:7240710 20130221 OMIM 3673 Shh sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 PMID:10556296|PMID:12503095|PMID:15292211|PMID:18414213|PMID:20425842|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 3673 Shh sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736829 D RGD:12801442|PMID:24524909 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736830 D RGD:12801442|PMID:24524909 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:736830 D RGD:12859042|PMID:24744439 20170411 RGD mRNA, protein:increased expression:kidney 3673 Shh sonic hedgehog signaling molecule gene DOID:9006294 Congenital Limb Deformities ISO RGD:736830 D RGD:12801441|PMID:15677727 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:7240710 20190327 OMIM 3673 Shh sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:10556296|PMID:12709790|PMID:15292211|PMID:18655123|PMID:19533790|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28492532|PMID:32939873|PMID:9302262 3673 Shh sonic hedgehog signaling molecule gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:736829 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum 3673 Shh sonic hedgehog signaling molecule gene DOID:9007798 Preaxial Polydactyly II ISO RGD:736829 D RGD:12801447|PMID:20569257 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9007798 Preaxial Polydactyly II ISO RGD:736829 D RGD:12801448|PMID:18463159 20170331 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2306299|PMID:18228117 20090407 RGD protein:increased expression:heart 3673 Shh sonic hedgehog signaling molecule gene DOID:9008296 Eye Abnormalities ISO RGD:736829 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24973920 3673 Shh sonic hedgehog signaling molecule gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:15292211|PMID:22897141|PMID:25741868|PMID:28492532|PMID:29205322|PMID:9302262 3673 Shh sonic hedgehog signaling molecule gene DOID:9250 acrocallosal syndrome ISO RGD:736829 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:29321670 3673 Shh sonic hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:736829 D RGD:150520173|PMID:17007023 20211101 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9256 colorectal cancer ISO RGD:736829 D RGD:150520174|PMID:22901214 20211101 RGD 3673 Shh sonic hedgehog signaling molecule gene DOID:9282 ocular hypertension IEP D RGD:2324982|PMID:20071678 20170410 RGD 3674 Shox2 short stature homeobox 2 gene DOID:0060847 Leri-Weill dyschondrosteosis ISS RGD:11290 D RGD:13592920 20180518 MouseDO OMIM:127300 3674 Shox2 short stature homeobox 2 gene DOID:1324 lung cancer ISO RGD:736918 D RGD:12859082|PMID:25331797 20170412 RGD 3674 Shox2 short stature homeobox 2 gene DOID:630 genetic disease ISO RGD:736918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3674 Shox2 short stature homeobox 2 gene DOID:674 cleft palate ISO RGD:11290 D RGD:12859081|PMID:16141225 20170412 RGD 3675 Si sucrase-isomaltase gene DOID:0060180 colitis IEP D RGD:1625545|PMID:16964428 20070613 RGD mRNA, protein:decreased expression:ileum 3675 Si sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:7240710 20130221 OMIM 3675 Si sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sucrase-isomaltase deficiency PMID:12624106|PMID:15944403|PMID:16199547|PMID:16329100|PMID:17576681|PMID:19121318|PMID:19680155|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:26812950|PMID:27579322|PMID:27749612|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290|PMID:8609217|PMID:9092938|PMID:9536098 3675 Si sucrase-isomaltase gene DOID:10283 prostate cancer ISO RGD:1352166 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3675 Si sucrase-isomaltase gene DOID:630 genetic disease ISO RGD:1352166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16329100|PMID:19121318|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:27579322|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290 3675 Si sucrase-isomaltase gene DOID:9004009 Reperfusion Injury IEP D RGD:1625550|PMID:9724271 20070613 RGD 3675 Si sucrase-isomaltase gene DOID:9005587 Starvation IEP D RGD:1625548|PMID:10864000 20070613 RGD 3675 Si sucrase-isomaltase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625543|PMID:12940455 20070613 RGD protein:increased expression:small intestine mucosa 3675 Si sucrase-isomaltase gene DOID:9007692 Insulin Resistance IEP D RGD:1625544|PMID:9878708 20070613 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1601776 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:1574 alcohol use disorder severity ISO RGD:1601776 D RGD:10043133|PMID:17697868 20150514 RGD mRNA,protein:decreased expression:liver: 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1601776 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3070 high grade glioma treatment IDA D RGD:10043143|PMID:11559557 20150514 RGD 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736316 D RGD:10043141|PMID:9331085 20150514 RGD protein:increased activity:liver: 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9008691 Liver Injury ISO RGD:736316 D RGD:10043142|PMID:19046688 20150514 RGD protein:increased expression:plasma: 3676 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601776 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 3677 St6galnac3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1345799 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 3677 St6galnac3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1345799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3679 St8sia1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1603707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3679 St8sia1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:409 liver disease ISO RGD:1603707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3679 St8sia1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3680 St8sia3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment IEP D RGD:15090803|PMID:29655695 20200102 RGD 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment IEP D RGD:15090804|PMID:27090119 20200103 RGD mRNA:altered expression:liver (rat) 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:2043 hepatitis B ISO RGD:737174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25550158 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:2043 hepatitis B ISO RGD:737174 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, resistance to PMID:14660639|PMID:25418280|PMID:27882152|PMID:28835676|PMID:29658451 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:630 genetic disease ISO RGD:737174 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:7240710 20210414 OMIM 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial, 2 PMID:14660639|PMID:24867799|PMID:25418280|PMID:25741868|PMID:27882152|PMID:28835676|PMID:29658451 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:15045609|PMID:28827769 20191218 RGD mRNA:decreased expression:liver (rat) 3681 Slc10a1 solute carrier family 10 member 1 gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:14701 propionic acidemia ISO RGD:736402 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:1561 cognitive disorder ISO RGD:736402 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:303 substance-related disorder ISO RGD:736402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:5295 intestinal disease ISO RGD:736402 D RGD:1624186|PMID:9109432 20070503 RGD primary bile acid malabsorption; DNA:point mutation:exon:L243P, T262M 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:630 genetic disease ISO RGD:736402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:863 nervous system disease ISO RGD:736402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:9002661 Diabetes Complications ISO RGD:736402 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736402 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:9003880 Primary Bile Acid Malabsorption ISO RGD:736402 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:7240710 20210825 OMIM 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 PMID:19823678|PMID:25741868|PMID:28492532|PMID:30919572|PMID:34192422 3682 Slc10a2 solute carrier family 10 member 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:0050425 restless legs syndrome ISO RGD:737578 D RGD:5688410|PMID:21710629 20120301 RGD mRNA, protein:increased expression:pons, thalamus 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism IDA D RGD:5688715|PMID:20125122 20120301 RGD 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism IMP D RGD:5688713|PMID:19011085 20120301 RGD 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:0080855 Parkinsonism ISO RGD:737579 D RGD:5688713|PMID:19011085 20120301 RGD 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:11758 iron deficiency anemia IEP D RGD:2311409|PMID:17116743 20090713 RGD protein:increased expression:nasal cavity olfactory epithelium 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:11758 iron deficiency anemia ISO RGD:737578 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17116712 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia IAGP D RGD:729808|PMID:9448300 19990101 RGD DNA:missense mutation:cds:p.G185R (human) 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:737578 D RGD:1580430|PMID:16439678 19990101 RGD DNA:deletion, missense mutation:cds:428_430delGTG, p.G212V (human) 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:11759 hypochromic anemia ISO RGD:737579 D RGD:9743973|PMID:9241278 19990101 RGD DNA:missense mutation:cds:p.G185R (human) 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:14330 Parkinson's disease ISO RGD:737578 D RGD:5688403|PMID:21777657 20120301 RGD DNA:polymorphism:cds:1254T>C(human) 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:14330 Parkinson's disease ISO RGD:737578 D RGD:5688713|PMID:19011085 20120301 RGD 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:1724 duodenal ulcer IEP D RGD:11541091|PMID:19342511 20161007 RGD mRNA, protein:increased expression:duodenal mucosa 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:2316 brain ischemia IEP D RGD:5688411|PMID:21325818 20120301 RGD protein:increased expression:brain 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:2352 hemochromatosis ISO RGD:737578 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11439223 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:2355 anemia ISO RGD:737578 D RGD:5688718|PMID:17510944 20120302 RGD associated with Restless leg syndrome: DNA:SNPs:introns: 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:737578 D RGD:5688710|PMID:21276595 20120301 RGD DNA:SNP: :rs407135 (human) 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:552 pneumonia IMP D RGD:5688709|PMID:21278260 20120301 RGD 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:630 genetic disease ISO RGD:737578 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:9000310 Lung Injury ISO RGD:737579 D RGD:5688724|PMID:20336479 20120302 RGD 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:737578 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:737578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcytic anemia with liver iron overload PMID:15459009|PMID:16023393|PMID:16091455|PMID:16140868|PMID:16160008|PMID:16439678|PMID:25741868|PMID:28492532|PMID:35457224 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:9005215 Hypochromic Microcytic Anemia with Iron Overload 1 ISO RGD:737578 D RGD:7240710 20190315 OMIM 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:9005725 Iron Overload ISO RGD:737578 D RGD:1580431|PMID:15459009 19990101 RGD DNA:snp:exon:c.1285G>C (human) 3684 Slc11a2 solute carrier family 11 member 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737578 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:0050450 Gitelman syndrome ISO RGD:731943 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:8640224 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:7240710 20130221 OMIM 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter disease type 1 PMID:12761241|PMID:15167446|PMID:17576681|PMID:18391953|PMID:19096086|PMID:19513753|PMID:19602640|PMID:20219833|PMID:21157372|PMID:21209010|PMID:23897314|PMID:24033266|PMID:24253496|PMID:24550759|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26963954|PMID:28000888|PMID:28095294|PMID:28492532|PMID:28893421|PMID:29398133|PMID:29942493|PMID:30076350|PMID:30113482|PMID:31625567|PMID:32997713|PMID:33532864|PMID:33973684|PMID:36092934|PMID:8640224|PMID:9355073|PMID:9536098|PMID:9585600 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:17998760|PMID:18391953|PMID:19096086|PMID:28492532|PMID:28893421|PMID:8640224|PMID:9585600 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:14323 Marfan syndrome ISO RGD:731943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:2717 Bloom syndrome ISO RGD:731943 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:445 Bartter disease ISO RGD:731943 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10561751 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:445 Bartter disease ISO RGD:731943 D RGD:1624188|PMID:8640224 20070503 RGD antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:445 Bartter disease ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome PMID:28492532|PMID:29398133|PMID:35358470|PMID:36092934|PMID:9585600 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:630 genetic disease ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:9001276 Failure to Thrive ISO RGD:731943 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 3685 Slc12a1 solute carrier family 12 member 1 gene DOID:9256 colorectal cancer ISO RGD:731943 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10561751 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:1580588|PMID:16221718 19990101 RGD DNA:snp:intron:IVS9+1G>T (human) 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:7240710 20130221 OMIM 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:10516289|PMID:10561140|PMID:10616841|PMID:10988270|PMID:11168953|PMID:11408395|PMID:11532083|PMID:11940055|PMID:12008755|PMID:12039972|PMID:12112667|PMID:12185467|PMID:12483017|PMID:12704198|PMID:12772080|PMID:12911530|PMID:14655226|PMID:14675033|PMID:14766743|PMID:15002785|PMID:15069170|PMID:15102966|PMID:15198479|PMID:15206555|PMID:15309683|PMID:15687331|PMID:15824853|PMID:15976513|PMID:16199547|PMID:16221718|PMID:16370563|PMID:16471174|PMID:16801039|PMID:16837915|PMID:16932456|PMID:16966826|PMID:17044667|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17414160|PMID:17460608|PMID:17511264|PMID:17576681|PMID:17654016|PMID:17699451|PMID:17873326|PMID:17885550|PMID:18033047|PMID:18270262|PMID:18287808|PMID:18344243|PMID:18362449|PMID:18391953|PMID:18402569|PMID:18580052|PMID:19016647|PMID:19033254|PMID:19207868|PMID:19349556|PMID:19420906|PMID:19451210|PMID:19489442|PMID:19508680|PMID:19668106|PMID:20072789|PMID:20552229|PMID:20675610|PMID:20810575|PMID:20848653|PMID:20981092|PMID:21051746|PMID:21157372|PMID:21256383|PMID:21342329|PMID:21415153|PMID:21628937|PMID:21631963|PMID:21654754|PMID:21753071|PMID:21757836|PMID:22009145|PMID:22169961|PMID:22214629|PMID:22241817|PMID:22245519|PMID:22484642|PMID:22627394|PMID:22679066|PMID:22728489|PMID:22802996|PMID:22934535|PMID:22990302|PMID:23328711|PMID:23475471|PMID:23698802|PMID:23756661|PMID:23833262|PMID:24033266|PMID:24696311|PMID:24759409|PMID:24776766|PMID:24790334|PMID:24825090|PMID:24830959|PMID:25012174|PMID:25112827|PMID:25140267|PMID:25165177|PMID:25422309|PMID:25525159|PMID:25741868|PMID:25741907|PMID:25815233|PMID:25838649|PMID:25841442|PMID:25852896|PMID:25990047|PMID:26041598|PMID:26121437|PMID:26221292|PMID:26260218|PMID:26306968|PMID:26467025|PMID:26484179|PMID:26633545|PMID:26770037|PMID:26825084|PMID:26830254|PMID:26921350|PMID:26990548|PMID:27007659|PMID:27173320|PMID:27216017|PMID:27303630|PMID:27386324|PMID:27453715|PMID:27454426|PMID:27582097|PMID:27872838|PMID:28125972|PMID:28325561|PMID:28469853|PMID:28492532|PMID:28947054|PMID:29378538|PMID:29398133|PMID:29403282|PMID:29925901|PMID:29942493|PMID:29953267|PMID:30084681|PMID:30136149|PMID:30138938|PMID:30413979|PMID:30586318|PMID:30596175|PMID:31183353|PMID:31285285|PMID:31398183|PMID:31672324|PMID:32129221|PMID:32528714|PMID:32542819|PMID:32860008|PMID:33095447|PMID:33121425|PMID:33348466|PMID:33532864|PMID:33807568|PMID:34046503|PMID:34746741|PMID:34805638|PMID:8528245|PMID:8812482|PMID:8865231|PMID:8900229|PMID:8954067|PMID:9536098|PMID:9596079|PMID:9734597 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:10763 hypertension ISO RGD:733325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18480177 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension ISO RGD:733325 D RGD:1580589|PMID:15480096 19990101 RGD DNA:missense mutation:cds:p.R904Q (human) 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension severity ISO RGD:73325 D RGD:1580586|PMID:15824464 19990101 RGD DNA:snp:intron:g.1784C>T (human) 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:178 vascular disease ISO RGD:733325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:557 kidney disease ISO RGD:733325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:630 genetic disease ISO RGD:733325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11168953|PMID:12039972|PMID:12483017|PMID:14655226|PMID:15002785|PMID:15102966|PMID:15206555|PMID:16199547|PMID:16801039|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17654016|PMID:18033047|PMID:18391953|PMID:19016647|PMID:19451210|PMID:19508680|PMID:20848653|PMID:21415153|PMID:21631963|PMID:21753071|PMID:22009145|PMID:22214629|PMID:22934535|PMID:23328711|PMID:24033266|PMID:24790334|PMID:25422309|PMID:25741868|PMID:25841442|PMID:26467025|PMID:26484179|PMID:26633545|PMID:27303630|PMID:27582097|PMID:28492532|PMID:29925901|PMID:29942493|PMID:30138938|PMID:30586318|PMID:30596175|PMID:31285285|PMID:31672324|PMID:33095447|PMID:34746741|PMID:34805638|PMID:8528245 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1580587|PMID:15956070 19990101 RGD protein:altered expression:kidney (rat) 3686 Slc12a3 solute carrier family 12 member 3 gene DOID:9005532 Muscle Weakness ISO RGD:733325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10988270|PMID:12039972|PMID:17329572|PMID:17654016|PMID:18391953|PMID:21415153|PMID:22009145|PMID:23328711|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26921350|PMID:28492532|PMID:31672324|PMID:8528245|PMID:9734597 3687 Slc12a4 solute carrier family 12 member 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 3687 Slc12a4 solute carrier family 12 member 4 gene DOID:1391 Norum disease ISO RGD:736767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency PMID:1571050|PMID:15994445|PMID:1662503|PMID:21875686|PMID:21901787|PMID:22189200|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:29030428|PMID:30333156|PMID:33816482|PMID:7613477|PMID:9541390|PMID:9741700 3687 Slc12a4 solute carrier family 12 member 4 gene DOID:630 genetic disease ISO RGD:736767 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3688 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:0060356 Vici syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 3688 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:1059 intellectual disability ISO RGD:1354455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3688 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:1354455 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM 3688 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:630 genetic disease ISO RGD:1354455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3688 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:718 autoimmune hemolytic anemia ISO RGD:1354455 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6427987 3688 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1354455 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 3689 Slc14a2 solute carrier family 14 member 2 gene DOID:0060356 Vici syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 3689 Slc14a2 solute carrier family 14 member 2 gene DOID:1059 intellectual disability ISO RGD:731952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3689 Slc14a2 solute carrier family 14 member 2 gene DOID:630 genetic disease ISO RGD:731952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3689 Slc14a2 solute carrier family 14 member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:731952 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737474 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:7240710 20130221 OMIM 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7 PMID:11207177|PMID:17701893|PMID:18414213|PMID:19881260|PMID:25371203|PMID:25741868|PMID:25741869|PMID:26595136|PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:0080600 COVID-19 ISO RGD:737474 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:0080690 RASopathy ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:13938 amenorrhea ISO RGD:737474 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:2018 hyperinsulinism ISO RGD:737474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737474 D RGD:152995523|PMID:29885404 20220628 RGD protein:increased expression:lung (human) 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:630 genetic disease ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:7240710 20130221 OMIM 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocyte lactate transporter defect | ClinVar Annotator: match by term: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO PMID:10590411|PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532|PMID:3775384 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:7240710 20160615 OMIM 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532 3690 Slc16a1 solute carrier family 16 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 3691 Slc16a7 solute carrier family 16 member 7 gene DOID:630 genetic disease ISO RGD:1346247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3691 Slc16a7 solute carrier family 16 member 7 gene DOID:9970 obesity ISO RGD:1346247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 3693 Slc18a1 solute carrier family 18 member A1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 3693 Slc18a1 solute carrier family 18 member A1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:737319 D RGD:5131200|PMID:16189177 20110425 RGD mRNA:increased expression:tumor (human) 3693 Slc18a1 solute carrier family 18 member A1 gene DOID:3312 bipolar disorder ISO RGD:737319 D RGD:5131197|PMID:16936705 20110425 RGD DNA:SNPs:5' utr, cds:g.-584A>G (rs988713), p.T136I (rs1390938) (human) 3693 Slc18a1 solute carrier family 18 member A1 gene DOID:5419 schizophrenia ISO RGD:737319 D RGD:5131198|PMID:18451639 20110425 RGD DNA:SNP:cds:p.T4P (human) 3693 Slc18a1 solute carrier family 18 member A1 gene DOID:630 genetic disease ISO RGD:737319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:0080855 Parkinsonism ISO RGD:734009 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16269145 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:13548 secondary Parkinson disease ISO RGD:734009 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34774656 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease IEP D RGD:5131086|PMID:21291984 20110420 RGD mRNA:decreased expression:substantia nigra (rat) 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease IMP D RGD:5129143|PMID:16269145 20110324 RGD 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:11300 D RGD:5131163|PMID:11463816 20110421 RGD 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:34774656 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:5131167|PMID:16421508 20110421 RGD protein:decreased expression:putamen, caudate nucleus, striatum (human) 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease resistance ISO RGD:734009 D RGD:5131165|PMID:16339215 20110421 RGD DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:1440 Machado-Joseph disease IEP D RGD:5131159|PMID:18385100 20110421 RGD protein:decreased expression:substantia nigra (rat) 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:1596 depressive disorder ISO RGD:11300 D RGD:5131168|PMID:17898223 20110421 RGD 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:303 substance-related disorder IEP D RGD:5131179|PMID:17683483 20110421 RGD protein:increased cysteine nitrosylation:striatum, vesicle (rat) 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:3602 toxic encephalopathy IEP D RGD:5130970|PMID:19798748 20110418 RGD protein:increased expression:thalamus (rat) 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:630 genetic disease ISO RGD:734009 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:863 nervous system disease ISO RGD:734009 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:9002955 Nerve Degeneration ISO RGD:734009 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18643795 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:9009198 Parkinsonism-Dystonia, Infantile, 2 ISO RGD:734009 D RGD:7240710 20190315 OMIM 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:9009198 Parkinsonism-Dystonia, Infantile, 2 ISO RGD:734009 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal dense granules | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 PMID:23363473|PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:32581362|PMID:35002152|PMID:36318270 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus IDA D RGD:2317333|PMID:16710474 20100326 RGD 3694 Slc18a2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734009 D RGD:5131199|PMID:19223416 20110425 RGD protein:decreased expression:pancreas (human) 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737399 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:737399 D RGD:11565105|PMID:22868813 20161121 RGD DNA:SNP: : (rs1051266) (human) 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737399 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21760912 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:12365 malaria ISO RGD:737399 D RGD:40903062|PMID:27198213 20210218 RGD DNA:SNP::g.80G>A (human) 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:12849 autistic disorder ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16917939|PMID:20468076 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:12849 autistic disorder ISO RGD:737399 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:1289 neurodegenerative disease ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:13550 angle-closure glaucoma ISO RGD:737399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:31623504 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:14250 Down syndrome ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16845273|PMID:17431899 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:1826 epilepsy ISO RGD:737399 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:2531 hematologic cancer ameliorates ISO RGD:737399 D RGD:10449413|PMID:21984221 20210218 RGD DNA:missense mutation:CDS:p.H27R (human) 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737399 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:4448 macular degeneration ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:630 genetic disease ISO RGD:737399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:657 adenoma ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:674 cleft palate ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:784 chronic kidney disease IEP D RGD:7327184|PMID:21149507 20130913 RGD mRNA:decreased expression:multiple (rat) 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:83 cataract ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:25456301|PMID:28492532 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:8501 fundus dystrophy ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:863 nervous system disease ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:737399 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737399 D RGD:7240710 20210414 OMIM 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9002033 Knobloch Syndrome ISO RGD:737399 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:12415512|PMID:14695535|PMID:1554013|PMID:17546652|PMID:17576681|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32860008|PMID:9536098 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:737399 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:25741868|PMID:28492532 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9002801 Recurrence ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15705887 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9006205 Animal Disease Models ISO RGD:737399 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:15457444|PMID:15677700|PMID:17325736|PMID:18322994|PMID:19827168|PMID:22450926|PMID:22992668|PMID:25227144|PMID:26616421|PMID:27992285|PMID:28492532|PMID:31099054 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9263 homocystinuria ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9296 cleft lip ISO RGD:737399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737399 D RGD:11565176|PMID:18797703 20161122 RGD DNA:SNP: :80G>A(human) 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 3695 Slc19a1 solute carrier family 19 member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737399 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732972 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:31209396|PMID:35663546 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:7240710 20230517 OMIM 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dicarboxylic aminoaciduria PMID:21123949|PMID:25741868|PMID:28492532 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:7240710 20230517 OMIM 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:732972 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:1561 cognitive disorder ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:1826 epilepsy ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151515 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:289 endometriosis ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:11301 D RGD:11553929|PMID:24304186 20161018 RGD protein:decreased expression:frontal cortex: 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:732972 D RGD:11553929|PMID:24304186 20161018 RGD protein:decreased expression:frontal cortex: 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:5419 schizophrenia ISO RGD:732972 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:630 genetic disease ISO RGD:732972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:8466 retinal degeneration ISO RGD:732972 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732972 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:9004462 Atrophy ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:732972 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 3696 Slc1a1 solute carrier family 1 member 1 gene DOID:936 brain disease ISO RGD:732972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:7240710 20190315 OMIM 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 PMID:23107647|PMID:23934111|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:31164858|PMID:31618753 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:1059 intellectual disability ISO RGD:732300 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:732300 D RGD:13432194|PMID:9100675 20170925 RGD 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:736773 D RGD:13432195|PMID:17409241 20170925 RGD 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:1826 epilepsy ISO RGD:732300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:1302517|PMID:9539131 19990101 RGD mRNA:processing errors:spinal cord, motor cortex (human) 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:630 genetic disease ISO RGD:732300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732300 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22645130 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732300 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19625514 3697 Slc1a2 solute carrier family 1 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732300 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:0050952 spastic ataxia ISO RGD:732126 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:7240710 20130221 OMIM 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 6 PMID:16116111|PMID:19139306|PMID:23107647|PMID:24214974|PMID:25497598|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28472652|PMID:28492532|PMID:29062094|PMID:32741053 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:0080600 COVID-19 ISO RGD:732126 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:12849 autistic disorder ISO RGD:732126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:13544 low tension glaucoma ISS RGD:736549 D RGD:13592920 20180518 MouseDO OMIM:606657 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:1826 epilepsy ISO RGD:732126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:630 genetic disease ISO RGD:732126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732126 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732126 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 3698 Slc1a3 solute carrier family 1 member 3 gene DOID:963 episodic ataxia ISO RGD:732126 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:0060230 basal ganglia calcification ISS RGD:736588 D RGD:13592920 20180518 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:733735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:733735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:182 calcinosis ISO RGD:733735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:630 genetic disease ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:679 basal ganglia disease ISO RGD:733735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:8725 vascular dementia ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22327515 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:7240710 20131106 OMIM 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:20301594|PMID:22327515|PMID:23334463|PMID:23437308|PMID:24209445|PMID:25178512|PMID:25284758|PMID:25741868|PMID:26475232|PMID:27726124|PMID:27943094|PMID:28391956|PMID:28477710|PMID:28492532|PMID:30609140|PMID:31618668|PMID:32705272|PMID:34732400 3699 Slc20a2 solute carrier family 20 member 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733735 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 3700 Slco1a1 solute carrier organic anion transporter family, member 1a1 gene DOID:12236 primary biliary cholangitis IEP D RGD:14700810|PMID:15770136 20190820 RGD protein:decreased expression:liver 3700 Slco1a1 solute carrier organic anion transporter family, member 1a1 gene DOID:12308 Dubin-Johnson syndrome IEP D RGD:1598620|PMID:14731123 20061207 RGD 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1351828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:303 substance-related disorder ISO RGD:1351828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17010131 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:630 genetic disease ISO RGD:1351828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:820 myocarditis ISO RGD:1351828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735816 D RGD:7243178|PMID:23228442 20130510 RGD mRNA:decreased expression:kidney 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351828 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351828 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 3701 Slc22a3 solute carrier family 22 member 3 gene DOID:9970 obesity ISO RGD:1351828 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0050700 cardiomyopathy ISO RGD:733710 D RGD:1580608|PMID:15487009 19990101 RGD DNA:frameshift mutation:cds:p.R282fsX295 (human) 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733710 D RGD:1580610|PMID:12802501 19990101 RGD mRNA:decreased expression:PBMCs (human) 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733710 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:18337137|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21126579|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:26190315|PMID:26828774|PMID:27896095|PMID:28166811|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:9536098|PMID:9916797 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:20027113|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:9536098|PMID:9916797 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:20027113|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:34178604|PMID:9536098|PMID:9916797 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10051646|PMID:10480371|PMID:11715001|PMID:12210323|PMID:14605509|PMID:15714519|PMID:16199547|PMID:16652335|PMID:16830263|PMID:17576681|PMID:17703373|PMID:18337137|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21864509|PMID:21922592|PMID:2199596|PMID:2235122|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25741868|PMID:26190315|PMID:26828774|PMID:27896095|PMID:28492532|PMID:28711408|PMID:28841266|PMID:30863740|PMID:31364285|PMID:3215194|PMID:32371215|PMID:33181153|PMID:34178604|PMID:9536098|PMID:9916797 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:0110889 inflammatory bowel disease 5 ISO RGD:733710 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 5 PMID:15107849|PMID:16333318|PMID:17213842 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:20074989|PMID:23520115|PMID:25741868|PMID:28492532 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703373 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:1580611|PMID:12408185 19990101 RGD DNA:missense mutations:cds:p.S28I, p.Y447C (human) 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:7240710 20130221 OMIM 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:10051646|PMID:10072434|PMID:10425211|PMID:10454528|PMID:10480371|PMID:10545605|PMID:10559218|PMID:10612840|PMID:10679939|PMID:11058897|PMID:11715001|PMID:12183691|PMID:12204000|PMID:12210323|PMID:12408185|PMID:12409266|PMID:14506273|PMID:14605509|PMID:14665638|PMID:15303004|PMID:15523054|PMID:15617188|PMID:15714519|PMID:16199547|PMID:16602102|PMID:16652335|PMID:16830263|PMID:16931768|PMID:17126586|PMID:17486650|PMID:17576681|PMID:17594400|PMID:17703373|PMID:18337137|PMID:18673259|PMID:19141711|PMID:19208393|PMID:19238580|PMID:19419416|PMID:20027113|PMID:20074989|PMID:20208395|PMID:20574985|PMID:21126579|PMID:21864509|PMID:21922592|PMID:2199596|PMID:22116472|PMID:2216472|PMID:2235122|PMID:22494076|PMID:22989098|PMID:23090741|PMID:23379544|PMID:23430798|PMID:23430858|PMID:23430869|PMID:23520115|PMID:23653224|PMID:23757202|PMID:23798014|PMID:23963628|PMID:24033266|PMID:24516753|PMID:24517888|PMID:24746540|PMID:24997454|PMID:25132046|PMID:25224063|PMID:25525159|PMID:25665836|PMID:25741868|PMID:25846890|PMID:25961151|PMID:26075114|PMID:26190315|PMID:26252091|PMID:26350513|PMID:26633542|PMID:26828774|PMID:26990548|PMID:27181684|PMID:27320645|PMID:27581592|PMID:27629047|PMID:27896095|PMID:27931018|PMID:28074886|PMID:28492532|PMID:28554332|PMID:28711408|PMID:28753539|PMID:28841266|PMID:28857146|PMID:29132460|PMID:29165669|PMID:29790872|PMID:30609409|PMID:30626930|PMID:30838026|PMID:30863740|PMID:30904546|PMID:31187905|PMID:31200524|PMID:31364285|PMID:31737040|PMID:31813139|PMID:31864849|PMID:31980526|PMID:3215194|PMID:32371215|PMID:32371413|PMID:32778825|PMID:32793418|PMID:32870709|PMID:33181153|PMID:33560599|PMID:33757571|PMID:34032155|PMID:34178604|PMID:34249102|PMID:34637945|PMID:35095998|PMID:35281663|PMID:35888728|PMID:3974805|PMID:9536098|PMID:9634512|PMID:9700600|PMID:9700603|PMID:9826541|PMID:9916797 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:1790 malignant mesothelioma ISO RGD:733710 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:630 genetic disease ISO RGD:733710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12210323|PMID:16652335|PMID:16830263|PMID:20574985|PMID:21922592|PMID:23430869|PMID:24997454|PMID:25741868|PMID:28492532 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:655 inherited metabolic disorder ISO RGD:733710 D RGD:1624241|PMID:3974805 20070507 RGD primary systemic carnitine deficiency,OMIM:212140;DNA:deletion:exon 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:820 myocarditis ISO RGD:733710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:8778 Crohn's disease susceptibility ISO RGD:733710 D RGD:1580609|PMID:15107849 19990101 RGD DNA:snp, haplotype:promoter:g.-207G>C (human) 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:9002189 High Myopia ISO RGD:733710 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: High myopia PMID:18673259|PMID:25741868|PMID:26633542|PMID:26828774|PMID:28074886|PMID:28492532|PMID:28841266 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733710 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:9005372 Inflammation ISO RGD:733710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:9006534 Nervous System Malformations ISO RGD:733710 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20208395|PMID:20574985|PMID:21864509|PMID:24033266|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30626930|PMID:31980526|PMID:32371413|PMID:32778825 3702 Slc22a5 solute carrier family 22 member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:13506826|PMID:23561848 20180220 RGD DNA:mutations:exons: 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29238895|PMID:9031613 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343333 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:7240710 20200205 OMIM 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29031613|PMID:29238895|PMID:9031613 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:1059 intellectual disability ISO RGD:1343333 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:11372 megacolon ISO RGD:1343333 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:12849 autistic disorder ISO RGD:1343333 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:1826 epilepsy ISO RGD:1343333 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:5419 schizophrenia ISO RGD:1343333 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1343333 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:630 genetic disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343333 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:9007661 Dwarfism ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:7240710 20190315 OMIM 3703 Slc25a1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 23, presynaptic PMID:25741868|PMID:26870663|PMID:31527857|PMID:31808147 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737272 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:11305 D RGD:12879501|PMID:19918242 20170424 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:11070819|PMID:21135204 20170424 RGD DNA:deletion:intron:rs35565219 (human) 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:12879498|PMID:23427181 20170424 RGD DNA:SNPs, haplotype: :rs710218, rs2229682 (human) 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:12879478|PMID:21832227 20170421 RGD DNA:missense mutation:exon: p.R212C (c.634C>T) (human) 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:7240710 20130731 OMIM 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 PMID:10980529|PMID:11076005|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27351150|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29961769|PMID:31196579|PMID:31737037|PMID:8808284|PMID:9536098 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:7240710 20130425 OMIM 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:14605501|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:19901175|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20417043|PMID:20621801|PMID:21069159|PMID:21135204|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21832227|PMID:23106342|PMID:23280796|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:27351150|PMID:28116237|PMID:28492532|PMID:28961260|PMID:28971506|PMID:29530121|PMID:30271476|PMID:30588498|PMID:31302675|PMID:31605543|PMID:31737037|PMID:34305802|PMID:9462754|PMID:9536098 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737272 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:7240710 20230505 OMIM 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21832227|PMID:22282645|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:31737037|PMID:9536098 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:737272 D RGD:12879497|PMID:10975929 20170424 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:21832227|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:10591 pre-eclampsia ISO RGD:737272 D RGD:155631283|PMID:22840297 20221031 RGD mRNA:decreased expression:chorionic villus (human) 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:10652 Alzheimer's disease ISO RGD:737272 D RGD:2313620|PMID:8179300 20091005 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:10763 hypertension IEP D RGD:12879474|PMID:12771048 20170421 RGD protein:increased expression:renal glomerulus 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:10907 microcephaly ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9462754|PMID:10980529 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:10907 microcephaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10980529|PMID:20129935|PMID:21832227|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532|PMID:32581362 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1459 hypothyroidism IEP D RGD:12879481|PMID:16581179 20170421 RGD protein:decreased expression:cerebral cortex 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1790 malignant mesothelioma ISO RGD:737272 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1825 childhood absence epilepsy onset ISO RGD:737272 D RGD:11058811|PMID:26537434 20170421 RGD DNA:deletion, missense mutations, SNP:multiple 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:1826 epilepsy ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10980529|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:2154 nephroblastoma severity ISO RGD:737272 D RGD:12879482|PMID:22483234 20170421 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:255 hemangioma ISO RGD:737272 D RGD:12879499|PMID:10665907 20170424 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737272 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:12879855|PMID:9419067 20170427 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:4450 renal cell carcinoma ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7921415 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:543 dystonia ISO RGD:737272 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:28492532 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:630 genetic disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10980529|PMID:11477212|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27078104|PMID:27250207|PMID:28018440|PMID:28102150|PMID:28492532|PMID:30588498|PMID:31196579|PMID:31737037|PMID:9462754 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:6364 migraine ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:655 inherited metabolic disorder ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:83 cataract ISO RGD:11305 D RGD:12801446|PMID:11222509 20170424 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:8398 osteoarthritis ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18973239 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:863 nervous system disease ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737272 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:7240710 20171011 OMIM 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:10980529|PMID:11477212|PMID:12325075|PMID:15180870|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18606970|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21791420|PMID:21832227|PMID:23280796|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:28961260|PMID:31737037|PMID:9536098 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:12879466|PMID:26337659 20170421 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human) 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:2312305|PMID:15745834 20090805 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:12879861|PMID:22707888 20170427 RGD associated with Diabetes Mellitus, Experimental 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:12879480|PMID:9886959 20170421 RGD mRNA, protein:increased expression:liver 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:730192|PMID:11738800 20091005 RGD protein:increased expression:placenta 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20138251 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2313601|PMID:19781384 20091002 RGD mRNA, protein:increased expression:brain 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9004866 Ataxia ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11603379 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313617|PMID:17935675 20091005 RGD mRNA, protein:decreased expression:brain 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:12879858|PMID:8345816 20170427 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737272 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:26943884 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:11305 D RGD:12879476|PMID:22683290 20170421 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9462754|PMID:10980529|PMID:11603379|PMID:17489814 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:12879464|PMID:22011817 20170421 RGD DNA:mutations:exon, intron:multiple 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:12879473|PMID:20382060 20170421 RGD DNA:deletions: :multiple 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:1624245|PMID:9462754 20070507 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:7240710 20130221 OMIM 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar Annotator: match by term: Glucose transporter protein syndrome PMID:10980529|PMID:11076005|PMID:11102982|PMID:11136715|PMID:11389907|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:18606970|PMID:18614966|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20301603|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20630673|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24080273|PMID:24215330|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:27927575|PMID:28018440|PMID:28102150|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:28971506|PMID:29303961|PMID:29356177|PMID:29530121|PMID:29655203|PMID:29778030|PMID:29930392|PMID:29961769|PMID:30076047|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30895386|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31487502|PMID:31737037|PMID:32802945|PMID:33015236|PMID:33258288|PMID:33860439|PMID:34305802|PMID:8808284|PMID:9335548|PMID:9462754|PMID:9536098 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:12879857|PMID:10336852 20170427 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9462754|PMID:10980529|PMID:11603379 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9008582 Developmental Disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:737272 D RGD:12879502|PMID:17554865 20170424 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9351 diabetes mellitus ISO RGD:737272 D RGD:12879500|PMID:10022440 20170424 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9589670 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:2312306|PMID:18613291 20090805 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737272 D RGD:2312289|PMID:7516306 20090805 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737272 D RGD:2312290|PMID:9789717 20090805 RGD 3704 Slc2a1 solute carrier family 2 member 1 gene DOID:9970 obesity treatment ISO RGD:737272 D RGD:12879503|PMID:24842895 20170424 RGD associated with Polycystic Ovary Syndrome 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:0080074 neural tube defect ISO RGD:11306 D RGD:2312360|PMID:17235524 20090807 RGD associated with Hyperglycemia 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17636114|PMID:24033266|PMID:25741868|PMID:26495765|PMID:27035118|PMID:28492532|PMID:34669123 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11810292 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:7240710 20130221 OMIM 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:2747 glycogen storage disease ISO RGD:730861 D RGD:1624253|PMID:9354798 20070507 RGD Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human) 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11306 D RGD:2324975|PMID:19252908 20100518 RGD protein:increased expression:pancreatic duct 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:2324976|PMID:12114701 20100518 RGD protein:increased expression:pancreatic B cell 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:2324977|PMID:8421107 20100518 RGD mRNA:decreased expression:pancreatic islet 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:2324976|PMID:12114701 20100518 RGD 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:2324977|PMID:8421107 20100518 RGD mRNA:decreased expression:pancreatic islet 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:630 genetic disease ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:12879480|PMID:9886959 20170421 RGD mRNA, protein:decreased expression:liver 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312358|PMID:19433262 20090807 RGD mRNA:increased expression:kidney 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:2324976|PMID:12114701 20100518 RGD 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:2324977|PMID:8421107 20100518 RGD mRNA:decreased expression:pancreatic islet 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9351 diabetes mellitus ISO RGD:730861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11810292|PMID:23986439|PMID:25741868|PMID:28492532|PMID:8027028|PMID:8063045 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:1624252|PMID:8027028 20070507 RGD DNA:point mutation:exon:p.V197I (human) 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:7240710 20150311 OMIM 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730861 D RGD:2312359|PMID:17636114 20090807 RGD DNA:SNPs (human) 3705 Slc2a2 solute carrier family 2 member 2 gene DOID:9452 fatty liver disease ISO RGD:730861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12048068 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:737055 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:737055 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:737055 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:0111621 Temtamy syndrome ISO RGD:737055 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:10652 Alzheimer's disease ISO RGD:737055 D RGD:2313620|PMID:8179300 20091005 RGD 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:10763 hypertension IEP D RGD:1642812|PMID:7598707 20071017 RGD protein:decreased expression:hippocampus, parietal cortex; protein:increased expression:hypothalamus, thalamus 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:3042 allergic contact dermatitis ISO RGD:737055 D RGD:11554173 20170530 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:3138 acanthosis nigricans ISO RGD:737055 D RGD:1642802|PMID:11436180 20071017 RGD 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:630 genetic disease ISO RGD:737055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737055 D RGD:11554173 20170530 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:83 cataract IEP D RGD:2313618|PMID:12882795 20091005 RGD associated with Diabetes Mellitus, Experimental 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737055 D RGD:11554173 20170530 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:730192|PMID:11738800 20091005 RGD protein:increased expression:placenta 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2313601|PMID:19781384 20091002 RGD mRNA, protein:increased expression:brain 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313617|PMID:17935675 20091005 RGD mRNA, protein:decreased expression:brain 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9007692 Insulin Resistance ISO RGD:737055 D RGD:1642802|PMID:11436180 20071017 RGD 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737055 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9351 diabetes mellitus ISO RGD:737055 D RGD:2313619|PMID:10086067 20091005 RGD 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737055 D RGD:2313602|PMID:19110659 20091002 RGD protein:decreased expression:granulocyte, lymphocyte, monocyte 3706 Slc2a3 solute carrier family 2 member 3 gene DOID:9455 lipid storage disease ISO RGD:737055 D RGD:11554173 20170530 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:733874 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:733874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:10283 prostate cancer ISO RGD:733874 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:630 genetic disease ISO RGD:733874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:17065149 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:7240710 20141015 OMIM 3707 Slc30a2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Zinc deficiency, transient neonatal PMID:17065149|PMID:22733820|PMID:24456035|PMID:25741868|PMID:28665435 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia IEP D RGD:7243098|PMID:20466874 20130501 RGD protein:altered expression:renal cortex, brush border membrane (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:733686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:7242939|PMID:19515808 20130429 RGD 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:7242942|PMID:19933269 20130429 RGD mRNA:decreased expression:kidney (mouse) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:7243007|PMID:9560283 20130430 RGD 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:7242940|PMID:18835926 20130429 RGD protein:increased expression:kidney (mouse) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:7243099|PMID:20418498 20130501 RGD 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:733686 D RGD:7242925|PMID:16358215 20130426 RGD DNA:deletions, snps:multiple (human) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:7242924|PMID:19570882 20130426 RGD 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISS RGD:736512 D RGD:13592920 20180518 MouseDO OMIM:241530 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0060903 thrombosis ISO RGD:733686 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080006 bone development disease ISO RGD:733686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:7240710 20130221 OMIM 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:12324554|PMID:14672348|PMID:16199547|PMID:16688119|PMID:17576681|PMID:24033266|PMID:25050900|PMID:25082825|PMID:25741868|PMID:26047794|PMID:26272126|PMID:26787776|PMID:27378183|PMID:28492532|PMID:28893421|PMID:29959532|PMID:30778725|PMID:30943683|PMID:31672324|PMID:33099630|PMID:9536098 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:7240710 20190327 OMIM 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 2 PMID:20335586|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:2842681|PMID:28492532|PMID:35738466 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:733686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:10283 prostate cancer ISO RGD:733686 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:7242923|PMID:20335586 20130426 RGD DNA:duplication:exon:g.2061_2081dup (human) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:10763 hypertension ISO RGD:733686 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:11111 hydronephrosis ISO RGD:736512 D RGD:7243122|PMID:18550648 20130506 RGD DNA:missense mutations:exon:p.A499V, p.V528M (mouse) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:1227 neutropenia ISO RGD:733686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:12678 hypercalcemia ISO RGD:733686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:16199547|PMID:16688119|PMID:25741868|PMID:26047794|PMID:28492532|PMID:28893421|PMID:29959532 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:736512 D RGD:7242938|PMID:12674325 20130429 RGD associated with Hypercalciuria 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:1459 hypothyroidism IEP D RGD:7243134|PMID:17409279 20130507 RGD protein:decreased expression:renal cortex, brush border membrane (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:14735 hereditary angioedema ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:1555 urticaria ISO RGD:733686 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:1558 angioedema ISO RGD:733686 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:2231 factor XII deficiency ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10984376|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:21920016|PMID:22920075|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683|PMID:8528215|PMID:9354665|PMID:9536098 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:733686 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:3021 acute kidney failure disease_progression ISO RGD:736512 D RGD:7242943|PMID:19729856 20130429 RGD associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736512 D RGD:7242947|PMID:19193726 20130429 RGD protein:decreased expression:kidney, brush border membrane (mouse) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis ISO RGD:733686 D RGD:7242927|PMID:22396660 20130426 RGD DNA:snp:intron:IVS4+54C>T rs3812036 (human) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis onset ISO RGD:736512 D RGD:7243005|PMID:18337544 20130430 RGD associated with Hyperoxaluria 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:630 genetic disease ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:783 end stage renal disease IEP D RGD:7242930|PMID:15452708 20130426 RGD mRNA:decreased expression:renal cortex (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease IEP D RGD:7242935|PMID:21826734 20130426 RGD mRNA:decreased expression:kidney (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:733686 D RGD:7243100|PMID:20383146 20130501 RGD DNA:snp:intron:IVS9+122A>G rs6420094 (human) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:7998 hyperthyroidism IEP D RGD:7243131|PMID:10098486 20130507 RGD protein:increased expression:renal cortex, brush border membrane (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression IEP D RGD:7242933|PMID:11004225 20130426 RGD mRNA, protein:altered expression:renal cortex (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:7240710 20190315 OMIM 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 PMID:16199547|PMID:20466674|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29959532|PMID:33099630 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:733686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:736512 D RGD:7242936|PMID:21784483 20130426 RGD 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses IEP D RGD:7242944|PMID:19439519 20130429 RGD protein:altered expression:kidney, brush border membrane (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:736512 D RGD:7242948|PMID:18535837 20130429 RGD mRNA:decreased expression:kidney (mouse) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2311304|PMID:15775707 20090706 RGD protein:decreased expression:renal proximal tubule 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:733686 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile PMID:24033266|PMID:25741868 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9005267 Potassium Deficiency IEP D RGD:7243096|PMID:15355967 20130501 RGD protein:decreased expression:renal cortex, brush border membrane (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:2311304|PMID:15775707 20130430 RGD protein:decreased expression:renal proximal tubule, brush border membrane (rat) 3708 Slc34a1 solute carrier family 34 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733686 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1345624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24610330|PMID:25741868|PMID:28492532|PMID:32707643|PMID:9536098 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:1059 intellectual disability ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:1345624 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:3883 Lynch syndrome ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345624 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:630 genetic disease ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:7240710 20130221 OMIM 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria PMID:10464673|PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12820697|PMID:14531788|PMID:14561219|PMID:14991253|PMID:15635077|PMID:15691362|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:17010017|PMID:17576681|PMID:17880288|PMID:18234729|PMID:18332091|PMID:18414213|PMID:18704508|PMID:18947684|PMID:19782624|PMID:20517292|PMID:21255007|PMID:21488254|PMID:21677404|PMID:22480232|PMID:22493502|PMID:22796000|PMID:23007880|PMID:23532419|PMID:24033266|PMID:24215330|PMID:24610330|PMID:25109415|PMID:25296721|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26123750|PMID:26537754|PMID:28166740|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28893421|PMID:30146843|PMID:30773290|PMID:32133030|PMID:33349102|PMID:33532864|PMID:7539209|PMID:7573036|PMID:8054986|PMID:8731106|PMID:8792820|PMID:9083097|PMID:9186880|PMID:9536098|PMID:9648062|PMID:9719865|PMID:9768685 3709 Slc3a1 solute carrier family 3 member 1 gene DOID:9266 cystinuria susceptibility ISO RGD:1345624 D RGD:1600015|PMID:8054986 20070226 RGD DNA:missense mutations 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0050758 metabolic acidosis IEP D RGD:7242944|PMID:19439519 20160120 RGD protein:increased expression:renal cortex, renal medulla (rat) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:737027 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0110919 hereditary spherocytosis type 4 ISO RGD:737027 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0110919 hereditary spherocytosis type 4 ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 PMID:10403343|PMID:10745622|PMID:10766130|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11208088|PMID:11380459|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16227998|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19565014|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:27058983|PMID:27292444|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29572776|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31122244|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32266426|PMID:33532864|PMID:34093240|PMID:35738466|PMID:6338046|PMID:7530501|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8011524|PMID:8206915|PMID:8282779|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8547122|PMID:8567957|PMID:8608262|PMID:8640229|PMID:8704215|PMID:893429|PMID:8943874|PMID:9012689|PMID:9207478|PMID:9233560|PMID:9312167|PMID:9565662|PMID:9734643|PMID:9854053|PMID:9973643 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:11758 iron deficiency anemia IEP D RGD:10450513|PMID:1317772 20160115 RGD protein:decreased expression:erythrocyte, membrane (rat) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12365 malaria ISO RGD:737027 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12365 malaria ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:10450491|PMID:8547122 20160114 RGD DNA:missense mutation:cds:p.G771D (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:10450506|PMID:9207478 20160114 RGD DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:10450510|PMID:9326249 20160114 RGD mRNA:splicing error:intron:IVS8+1G>T (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1378323 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:1599007|PMID:8282779 20070111 RGD DNA:duplication:cds: (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Spherocytosis, Dominant 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:1386 abetalipoproteinemia ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis IEP D RGD:13208945|PMID:10600930 20170824 RGD mRNA,protein:increased expression:kidney: 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:10450480|PMID:22919024 20160113 RGD DNA:mutations:multiple (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:10450481|PMID:22126643 20160113 RGD DNA:missense mutation:cds:p.A858D (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9312167|PMID:23460825 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:12750988|PMID:1378323|PMID:14618420|PMID:14734552|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18524859|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:28638614|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:32632909|PMID:33532864|PMID:34159584|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:1588 thrombocytopenia ISO RGD:11309 D RGD:10450520|PMID:22279059 20160115 RGD mRNA:decreased expression:erythrocyte (mouse) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1737855 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:13208947|PMID:7742553 20170824 RGD 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:2146504|PMID:22126643|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737027 D RGD:10450516|PMID:21246053 20160115 RGD protein:increased phosphorylation:erythrocyte (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:583 hemolytic anemia ISO RGD:737027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16227998 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:583 hemolytic anemia ISO RGD:737027 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:11155072|PMID:1419785|PMID:1520883|PMID:1678289|PMID:1696010|PMID:19229254|PMID:21039340|PMID:2146504|PMID:2196932|PMID:23255290|PMID:24033266|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28492532|PMID:35738466|PMID:7812009|PMID:8206915|PMID:8343110|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:11309 D RGD:10450509|PMID:8841202 20160114 RGD 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:737027 D RGD:10450505|PMID:16227998 20160114 RGD DNA:missense mutations:cds:multiple (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:630 genetic disease ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11934690|PMID:16420521|PMID:25741868|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:8210309|PMID:9312167|PMID:9600966 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:718 autoimmune hemolytic anemia ISO RGD:11309 D RGD:10450476|PMID:8325343 20160113 RGD 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:74 hematopoietic system disease ISO RGD:737027 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8343110 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9001003 Distal Renal Tubular Acidosis, with Normal Red Cell Morphology ISO RGD:737027 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology PMID:15211439 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9003197 Vaso-occlusive Crisis ISO RGD:737027 D RGD:11100023|PMID:23643401 20160614 RGD 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9003936 Cardiomegaly ISO RGD:11309 D RGD:10450496|PMID:17056673 20160114 RGD associated with Anemia, Hemolytic 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11934690|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32154456|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005267 Potassium Deficiency IEP D RGD:8554499|PMID:17804457 20160120 RGD mRNA, protein:increased expression:renal cortex, renal medulla (rat) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:11309 D RGD:13208934|PMID:17409310 20170824 RGD 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing PMID:25741868|PMID:28492532|PMID:35738466 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9006575 Vitamin E Deficiency IEP D RGD:10450477|PMID:3458208 20160113 RGD protein:increased degradation:erythrocyte, membrane (rat) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007331 Alkalosis IEP D RGD:13208945|PMID:10600930 20170824 RGD mRNA,protein:decreased expression:kidney: 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:737027 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15211439|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:737027 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryohydrocytosis | ClinVar Annotator: match by term: Stomatocytosis, cold-sensitive PMID:10050708|PMID:10403343|PMID:10554820|PMID:10926824|PMID:10942416|PMID:11442486|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15142123|PMID:16107207|PMID:16227998|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7831176|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8471774|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008765 Malarial Anemia severity ISO RGD:737027 D RGD:10450507|PMID:16960783 20160114 RGD DNA:snp:promoter:g.-5699T>C (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008912 Ovalocytosis, Malaysian-Melanesian-Filipino Type ISO RGD:737027 D RGD:10450479|PMID:1722314 20160113 RGD DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human) 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008912 Ovalocytosis, Malaysian-Melanesian-Filipino Type ISO RGD:737027 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008912 Ovalocytosis, Malaysian-Melanesian-Filipino Type ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 3710 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9009133 ACANTHOCYTOSIS ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2307071|PMID:18988797 20150415 RGD mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:11716 prediabetes syndrome IEP D RGD:9999379|PMID:24105628 20150415 RGD protein:increased expression:epididymis 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18188457 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:14219 renal tubular acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:2843 long QT syndrome ISO RGD:733302 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:630 genetic disease ISO RGD:733302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:899 choledochal cyst ISO RGD:733302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733302 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:7240710 20230510 OMIM 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:9007331 Alkalosis IEP D RGD:9999377|PMID:17367404 20150415 RGD associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe 3711 Slc4a2 solute carrier family 4 member 2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:114 heart disease ISO RGD:733142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:1148 polydactyly ISO RGD:733142 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:630 genetic disease ISO RGD:733142 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:8466 retinal degeneration ISO RGD:12107555 D RGD:9068941 20221201 OMIA Progressive retinal atrophy, SLC4A3-related PMID:21738669|PMID:22065099|PMID:36325094 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:7240710 20230215 OMIM 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome 7 PMID:29167417 3712 Slc4a3 solute carrier family 4 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733142 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3713 Slc5a1 solute carrier family 5 member 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:732146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 3713 Slc5a1 solute carrier family 5 member 1 gene DOID:630 genetic disease ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3713 Slc5a1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:7240710 20130221 OMIM 3713 Slc5a1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:10036327|PMID:12139397|PMID:14673631|PMID:16199547|PMID:17576681|PMID:17903058|PMID:19167319|PMID:2008213|PMID:20486940|PMID:22314875|PMID:24033266|PMID:24048166|PMID:25741868|PMID:28152538|PMID:28283348|PMID:28492532|PMID:28753187|PMID:30656007|PMID:8563765|PMID:8844006|PMID:9309206|PMID:9536098|PMID:9815014 3713 Slc5a1 solute carrier family 5 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:732146 D RGD:1624257|PMID:2008213 20070507 RGD glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0050432 Asperger syndrome ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18197083 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea ISO RGD:732932 D RGD:4889462|PMID:19014073 20101202 RGD DNA:polymorphism, repeat:promoter, intron (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:4889463|PMID:16215942 20101202 RGD DNA:polymorphism:promoter (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:4889466|PMID:15867649 20101202 RGD DNA:polymorphism, repeat:promoter, intron (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0060001 withdrawal disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:732932 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0060131 alexithymia susceptibility ISO RGD:732932 D RGD:11352995|PMID:26609890 20200810 RGD associated wit Chronic Hepatitis C;DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0080855 Parkinsonism IEP D RGD:4889474|PMID:20447560 20101202 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18197083 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:1624295|PMID:14593431 20070508 RGD OCD1,OMIM:164230;DNA:polymorphism:I425V 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:7240710 20130221 OMIM 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder | ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to | ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869649|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593431|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:15995945|PMID:16642437|PMID:17101915|PMID:19531786|PMID:25741868|PMID:7865169|PMID:8632190|PMID:8788073 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:732932 D RGD:36947879|PMID:27430630 20200805 RGD DNA:repeat:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:11314 D RGD:4889441|PMID:16380550 20101201 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:732932 D RGD:1580639|PMID:10381332 19990101 RGD DNA:insertion:promoter: (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:732932 D RGD:38676265|PMID:30452889 20200916 RGD DNA;polymorphism:5'utr: (rs25531) (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9152989|PMID:16721604|PMID:17203304|PMID:17280648|PMID:20649385 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9831148|PMID:11920155 19990101 RGD DNA:mutations:multiple (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:12995 conduct disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behavior disorder PMID:12869649|PMID:14593431|PMID:15995945|PMID:18792946|PMID:18957375|PMID:19360675|PMID:19806148|PMID:28492532 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:14320 generalized anxiety disorder treatment ISO RGD:732932 D RGD:36947386|PMID:22907732 20200730 RGD DNA:repeats, haplotype:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16055263 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder no_association ISO RGD:732932 D RGD:36947382|PMID:12872203 20200730 RGD DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder susceptibility ISO RGD:732932 D RGD:5684911|PMID:19844206 20200730 RGD DNA:SNPs, haplotypes:multiple 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:36947384|PMID:27439447 20200730 RGD DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:36947871|PMID:24679990 20200805 RGD DNA:hypomethylation:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:38456009|PMID:15812265 20200810 RGD DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:39128240|PMID:12955294 20200928 RGD DNA:repeats:promotor: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1510 personality disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1561 cognitive disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23209555 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15520362|PMID:17000009 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:732932 D RGD:6480660|PMID:20838391 20120329 RGD protein:decreased activity: : 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder IMP D RGD:4889509|PMID:18295409 20101203 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12898347|PMID:18458677|PMID:18686203|PMID:21843009 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:36947395|PMID:20808944 20200804 RGD DNA:hypomethylation:promoter 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:38676480|PMID:23571152 20200921 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:4889426|PMID:20981038 20101201 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP: :rs3794808 (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:36947387|PMID:30582858 20200730 RGD associated with Radiation Injuries;DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:36947877|PMID:22134442 20200805 RGD associated with breast cancer;DNA:repeat:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder susceptibility ISO RGD:732932 D RGD:38456010|PMID:23096047 20200810 RGD associated with Coronary Disease;DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder treatment ISO RGD:732932 D RGD:36947869|PMID:20664233 20200805 RGD DNA:repeat:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder IMP D RGD:4889509|PMID:18295409 20101203 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18686203 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:7240710 20130221 OMIM 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:16642437|PMID:17101915|PMID:19531786|PMID:7865169|PMID:8632190|PMID:8788073 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:2841 asthma susceptibility ISO RGD:732932 D RGD:4889460|PMID:19806585 20101202 RGD DNA:repeat:intron (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:303 substance-related disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19272758 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732932 D RGD:4889426|PMID:20981038 20101201 RGD DNA:SNP: :rs2020936 (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11772685|PMID:16395126 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:36947381|PMID:10484962 20200730 RGD DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:3324 mood disorder ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878141 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732932 D RGD:36947396|PMID:11236836 20200804 RGD associated with alcohol use disorder;DNA:deletion:promoter:-1212_-1255 (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:5154 borna disease IEP D RGD:38549588|PMID:12106671 20200902 RGD protein:increased expression:brain (rat) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:5419 schizophrenia ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:5434 scrapie susceptibility ISO RGD:11314 D RGD:38676483|PMID:16730863 20200921 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6000 congestive heart failure ISO RGD:732932 D RGD:4889438|PMID:17307423 20101201 RGD DNA:repeat:promoter (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:630 genetic disease ISO RGD:732932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension IDA D RGD:4889435|PMID:19473340 20101201 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension IDA D RGD:4889445|PMID:11259539 20101201 RGD associated with Anoxia 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension IMP D RGD:4889437|PMID:18074800 20101201 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:11314 D RGD:4889432|PMID:19736308 20101201 RGD associated with Anoxia 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:4889430|PMID:19886858 20101201 RGD associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:4889432|PMID:19736308 20101201 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension no_association ISO RGD:732932 D RGD:4889440|PMID:16399993 20101201 RGD DNA:polymorphism, repeat:promoter, intron (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension onset ISO RGD:732932 D RGD:4889442|PMID:16339917 20101201 RGD DNA:repeat:promoter (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension severity ISO RGD:732932 D RGD:4889434|PMID:19556740 20101201 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:670 amphetamine abuse ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:7475 diverticulitis ISO RGD:732932 D RGD:38549586|PMID:18491196 20200902 RGD mRNA:decreased expression:colonic mucosa (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:36947383|PMID:14592408 20200730 RGD DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:38500210|PMID:15570154 20200811 RGD protein:decreased expression:rostral anterior cingulate cortex (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome severity ISO RGD:732932 D RGD:11098915|PMID:26473596 20200730 RGD DNA:repeats, haplotype:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia ISO RGD:732932 D RGD:6480658|PMID:22014438 20120329 RGD DNA:polymorphism: : 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia susceptibility ISO RGD:732932 D RGD:36947385|PMID:24720453 20200916 RGD DNA:haplotypes, multiple: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9002669 Hypoxia IEP D RGD:4889445|PMID:11259539 20101201 RGD mRNA:increased expression:lung 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9002953 Escherichia Coli Infections ISO RGD:11314 D RGD:36947380|PMID:19747920 20200730 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732932 D RGD:11352995|PMID:26609890 20200916 RGD associated with alexithymia;DNA:haplotypes, multiple: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9004086 AIDS Dementia Complex ISO RGD:11314 D RGD:38676266|PMID:25404050 20200916 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11320258 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:732932 D RGD:6480660|PMID:20838391 20120329 RGD protein:decreased activity: : 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12599191 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9007730 Burns IEP D RGD:4889516|PMID:17711618 20101203 RGD 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9008023 Memory Disorders ISO RGD:732932 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18661256|PMID:18686203 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9008114 Helicobacter Infections ISO RGD:732932 D RGD:36947385|PMID:24720453 20200730 RGD DNA:repeats:promoter: 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:11314 D RGD:38676481|PMID:16548890 20200921 RGD protein:decreased expression:colon (mouse) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9065 leishmaniasis ISO RGD:732932 D RGD:36947873|PMID:23989888 20200805 RGD lupoid leishmaniasis;protein:increased expression:skin of body (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:936 brain disease ISO RGD:732932 D RGD:38549583|PMID:21629258 20200902 RGD associated with hepatiis C;protein:increased binding:brain (human) 3714 Slc6a4 solute carrier family 6 member 4 gene DOID:9784 trichinosis ISO RGD:11314 D RGD:38676482|PMID:16336502 20200921 RGD protein:decreased expression:jejunum (mouse) 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:7240710 20230505 OMIM 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28263315|PMID:28492532 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:733809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:0080855 Parkinsonism IEP D RGD:1625663|PMID:15680936 20070619 RGD protein:decreased expression:striatum 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:10763 hypertension IEP D RGD:1625656|PMID:9074541 20070618 RGD protein:increased expression:caudate-putamen 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12699766|PMID:15059031|PMID:19120712|PMID:22034972 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:1358582|PMID:12915833 19990101 RGD with prenatal smoke exposure;DNA:repeat:3' utr: (human) 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:11119 Gilles de la Tourette syndrome ISS RGD:11315 D RGD:13592920 20180518 MouseDO OMIM:137580 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:12700 hyperprolactinemia treatment IEP D RGD:13506955|PMID:26297122 20180227 RGD 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:1307 dementia ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:14330 Parkinson's disease ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9763484|PMID:16112329|PMID:16963468|PMID:19590691 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:1574 alcohol use disorder ISO RGD:733809 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:2030 anxiety disorder ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:2769 tic disorder ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:3070 high grade glioma IEP D RGD:1625668|PMID:14698456 20070619 RGD protein:decreased expression 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:535 sleep disorder ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24403155 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:5419 schizophrenia ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762269 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:630 genetic disease ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10889530|PMID:16103889|PMID:16171832|PMID:16212992|PMID:18614672|PMID:19590515|PMID:20427663|PMID:25313507|PMID:25331903|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:670 amphetamine abuse ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:863 nervous system disease ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:8646 substance-induced psychosis ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9000123 Deglutition Disorders ISO RGD:733809 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dysphagia 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:733809 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:733809 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9002362 Hyperkinesis ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18347339|PMID:18588534 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9002955 Nerve Degeneration ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12871582|PMID:18206288 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:733809 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9004890 Paranoid Disorders ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8825631 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:733809 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27555326 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:733809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:17576681|PMID:18614672|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22495311|PMID:22514303|PMID:23436987|PMID:23979605|PMID:24613933|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:25747272|PMID:25774383|PMID:26931468|PMID:28263315|PMID:28492532|PMID:29559554|PMID:9536098 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11320258|PMID:11746736|PMID:16537431|PMID:19602552 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9005659 Parkinsonism-Dystonia, Infantile, 1 ISO RGD:733809 D RGD:7240710 20190424 OMIM 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9005659 Parkinsonism-Dystonia, Infantile, 1 ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:18614672|PMID:19478460|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22279524|PMID:22495311|PMID:23979605|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20875051 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9008023 Memory Disorders ISO RGD:733809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17992686 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9970 obesity no_association ISO RGD:733809 D RGD:1625653|PMID:16674552 20070618 RGD DNA:polymorphism 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9970 obesity susceptibility ISO RGD:733809 D RGD:1625655|PMID:12490667 20070618 RGD DNA:polymorphism 3715 Slc6a3 solute carrier family 6 member 3 gene DOID:9976 heroin dependence IEP D RGD:13506959|PMID:28598964 20180227 RGD 3716 Slc7a1 solute carrier family 7 member 1 gene DOID:630 genetic disease ISO RGD:736349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3716 Slc7a1 solute carrier family 7 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3716 Slc7a1 solute carrier family 7 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11401523 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:10652 Alzheimer's disease ISO RGD:731021 D RGD:13628395|PMID:21382638 20180613 RGD protein:altered expression:synaptosome: 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:10763 hypertension IEP D RGD:1598724|PMID:16343576 20071010 RGD 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:1580586|PMID:15824464 20071010 RGD DNA:SNP: :1784C>T 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:1580732|PMID:15785003 19990101 RGD DNA:snps:intron:g.-23200T>C, g.-23181T>C (human) 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:11372 megacolon ISO RGD:731021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15185227|PMID:17560225 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:11372 megacolon ISO RGD:731021 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731022 D RGD:10053661|PMID:23436819 20180613 RGD 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus IEP D RGD:2316980|PMID:15461673 20100308 RGD protein:decreased expression:brain 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:731021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia IEP D RGD:1642717|PMID:17662498 20071010 RGD protein:increased expression:brain 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia IEP D RGD:727449|PMID:12377375 19990101 RGD mRNA:decreased expression:cerebral cortex (rat) 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia IMP D RGD:6771236|PMID:22036625 20120724 RGD 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:3883 Lynch syndrome ISO RGD:731021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:6000 congestive heart failure IEP D RGD:1642720|PMID:17536604 20071010 RGD protein:increased expression:cardiac muscle cell 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:630 genetic disease ISO RGD:731021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:6432 pulmonary hypertension ISO RGD:731021 D RGD:1642711|PMID:17192285 20071010 RGD protein:increased expression:pulmonary artery, smooth muscle cell 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly IDA D RGD:1642713|PMID:15615841 20071010 RGD associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:731022 D RGD:1642725|PMID:17446477 20071010 RGD protein:increased serine phosphorylation:heart 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2316975|PMID:18037393 20100308 RGD 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731021 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642714|PMID:10944172 20071010 RGD mRNA, protein:decreased expression:cardiac muscle cell 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:13628396|PMID:27058979 20180613 RGD 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1642729|PMID:17267548 20071010 RGD 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:1642716|PMID:17822695 20071010 RGD protein:increased activity:cardiac muscle cell 3717 Slc8a1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15215644 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:7240710 20170503 OMIM 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome PMID:25205112|PMID:25741868|PMID:28492532|PMID:30018422 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19111554 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:1459 hypothyroidism IEP D RGD:625494|PMID:12039959 20120726 RGD protein:decreased expression:heart, microsome 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:1591 renovascular hypertension treatment IEP D RGD:727424|PMID:12218313 20150325 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:14985213|PMID:31250553 20191009 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:576 proteinuria IMP D RGD:14985213|PMID:31250553 20191105 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027022 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:6771337|PMID:18776042 20120726 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:630 genetic disease ISO RGD:736585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30018422 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:7998 hyperthyroidism IEP D RGD:625494|PMID:12039959 20120726 RGD protein:increased expression:heart, microsome 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:83 cataract IMP D RGD:8693684|PMID:22407349 20120726 RGD associated with Diabetes Mellitus, Experimental 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9000197 Edema ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9000641 Pain ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19248819 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock IMP D RGD:6771334|PMID:19384202 20120726 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17724433 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9002661 Diabetes Complications IMP D RGD:6771339|PMID:18057998 20120726 RGD associated with Diabetes Mellitus, Experimental 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9003676 Brain Hypoxia-Ischemia IMP D RGD:6771331|PMID:20883671 20120726 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury IMP D RGD:6771332|PMID:20337040 20120726 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19027022 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:6771336|PMID:19179646 20120726 RGD associated with Hypertension 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:6771239|PMID:22588937 20120724 RGD mRNA:increased expression:right ventricle myocardium 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9007102 Myocardial Ischemia IDA D RGD:1625560|PMID:17356886 20070614 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9007174 Ventricular Remodeling ISO RGD:736585 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:6771238|PMID:22803959 20120724 RGD 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9206 Barrett's esophagus ISO RGD:736585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 3718 Slc9a1 solute carrier family 9 member A1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:6771327|PMID:22009485 20120726 RGD mRNA, protein:decreased expression:heart 3719 Slc9a2 solute carrier family 9 member A2 gene DOID:0080685 aortic dissection ISO RGD:730959 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 3719 Slc9a2 solute carrier family 9 member A2 gene DOID:630 genetic disease ISO RGD:730959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3719 Slc9a2 solute carrier family 9 member A2 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:730959 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 3719 Slc9a2 solute carrier family 9 member A2 gene DOID:9000197 Edema ISO RGD:730959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730978 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:7240710 20190315 OMIM 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 PMID:25741868|PMID:26358773|PMID:28492532|PMID:30633106|PMID:31276831|PMID:3880821 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:10763 hypertension IDA D RGD:727447|PMID:12372791 19990101 RGD 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:10763 hypertension IDA D RGD:737665|PMID:11880335 19990101 RGD 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:13250 diarrhea ISO RGD:730978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:1485 cystic fibrosis ISO RGD:730978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:1591 renovascular hypertension treatment IEP D RGD:727424|PMID:12218313 20150325 RGD 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:5419 schizophrenia ISO RGD:730978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:630 genetic disease ISO RGD:730978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:8437 intestinal obstruction ISO RGD:730978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:9000197 Edema ISO RGD:730978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:730978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1625673|PMID:16244498 20070619 RGD protein:increased activity:kidney cortex 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:9006024 Hypotension ISO RGD:730978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 3720 Slc9a3 solute carrier family 9 member A3 gene DOID:9970 obesity IEP D RGD:1625672|PMID:16757903 20070619 RGD protein:decreased expression:kidney cortex 3721 Slc9a4 solute carrier family 9 member A4 gene DOID:0080685 aortic dissection ISO RGD:1606087 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 3721 Slc9a4 solute carrier family 9 member A4 gene DOID:630 genetic disease ISO RGD:1606087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3721 Slc9a4 solute carrier family 9 member A4 gene DOID:9002802 Acidoses ISO RGD:1606087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20484819 3722 Snai2 snail family transcriptional repressor 2 gene DOID:0110952 Waardenburg syndrome type 2D ISO RGD:735659 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2D PMID:12444107 3722 Snai2 snail family transcriptional repressor 2 gene DOID:0110952 Waardenburg syndrome type 2D ISS RGD:11321 D RGD:13592920 20230518 MouseDO OMIM:608890 3722 Snai2 snail family transcriptional repressor 2 gene DOID:0111961 immunodeficiency 26 ISO RGD:735659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 3722 Snai2 snail family transcriptional repressor 2 gene DOID:182 calcinosis ISO RGD:735659 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 3722 Snai2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism ISO RGD:735659 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial albinism PMID:12955764|PMID:24033266|PMID:28492532|PMID:30936914|PMID:32975012 3722 Snai2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism susceptibility ISO RGD:735659 D RGD:1600041|PMID:12444107 20070226 RGD DNA:deletions 3722 Snai2 snail family transcriptional repressor 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735659 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 3722 Snai2 snail family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:735659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3722 Snai2 snail family transcriptional repressor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 3722 Snai2 snail family transcriptional repressor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 3722 Snai2 snail family transcriptional repressor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 3722 Snai2 snail family transcriptional repressor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 3723 Tagln transgelin gene DOID:0060017 CD3epsilon deficiency ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 3723 Tagln transgelin gene DOID:0060837 isolated microphthalmia 5 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 3723 Tagln transgelin gene DOID:0080685 aortic dissection treatment ISO RGD:11323 D RGD:156420156|PMID:33403385 20230219 RGD Apolipoprotein E knockout 3723 Tagln transgelin gene DOID:0080690 RASopathy ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3723 Tagln transgelin gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 3723 Tagln transgelin gene DOID:0111123 nephronophthisis 15 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 3723 Tagln transgelin gene DOID:0111971 immunodeficiency 18 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 3723 Tagln transgelin gene DOID:0111972 immunodeficiency 19 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 3723 Tagln transgelin gene DOID:0111973 immunodeficiency 17 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 3723 Tagln transgelin gene DOID:1059 intellectual disability ISO RGD:11324 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3723 Tagln transgelin gene DOID:289 endometriosis ISO RGD:11324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 3723 Tagln transgelin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11324 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 3723 Tagln transgelin gene DOID:630 genetic disease ISO RGD:11324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3723 Tagln transgelin gene DOID:9000058 Keloid ISO RGD:11324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 3723 Tagln transgelin gene DOID:9002928 Colonic Neoplasms ISO RGD:11324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3723 Tagln transgelin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:11324 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 3723 Tagln transgelin gene DOID:9006182 Carotid Artery Injuries IEP D RGD:155883160|PMID:34694145 20230202 RGD mRNA:decreased expression:carotid artery: 3723 Tagln transgelin gene DOID:9007661 Dwarfism ISO RGD:11324 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 3723 Tagln transgelin gene DOID:9455 lipid storage disease ISO RGD:11324 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 3726 Smo smoothened, frizzled class receptor gene DOID:0050894 ameloblastoma ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 3726 Smo smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma ISO RGD:733306 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:19726788|PMID:22679179|PMID:25759020 3726 Smo smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma ISS RGD:735969 D RGD:13592920 20180518 MouseDO OMIM:155255 3726 Smo smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma treatment ISO RGD:735969 D RGD:150521622|PMID:22084163 20211112 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:0060071 pre-malignant neoplasm IEP D RGD:150520178|PMID:30537251 20211101 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 3726 Smo smoothened, frizzled class receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:733306 D RGD:150340550|PMID:16339184 20210812 RGD mRNA:increased expression:liver 3726 Smo smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:733306 D RGD:150340549|PMID:28350784 20210812 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:735969 D RGD:150340549|PMID:28350784 20210812 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:10907 microcephaly ISO RGD:733306 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 3726 Smo smoothened, frizzled class receptor gene DOID:11832 visual epilepsy IEP D RGD:2324992|PMID:16197497 20100518 RGD mRNA:increased expression:dentate gyrus 3726 Smo smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:733306 D RGD:2324910|PMID:19396459 20100518 RGD protein:increased expression:pancreas 3726 Smo smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:735969 D RGD:2324978|PMID:19460966 20100518 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer treatment ISO RGD:733306 D RGD:150340554|PMID:22859707 20210812 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:219 colon cancer ISO RGD:733306 D RGD:150340555|PMID:23098507 20210812 RGD protein:increased expression:colon 3726 Smo smoothened, frizzled class receptor gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:733306 D RGD:12801443|PMID:15308259 20170331 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815|PMID:26950094 3726 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:704355|PMID:9422511 20070115 RGD DNA:missense mutations:cds:p.W535L, p.R562Q (human) 3726 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:7240710 20230505 OMIM 3726 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:19726788|PMID:22679179|PMID:25741868|PMID:25759020|PMID:28492532|PMID:9422511 3726 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:733306 D RGD:12801453|PMID:10504535 20170331 RGD mRNA:increased expression:skin of body 3726 Smo smoothened, frizzled class receptor gene DOID:2602 chondroma treatment ISO RGD:735969 D RGD:12910968|PMID:26091072 20170630 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:12832759|PMID:23696546 20170410 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:12879404|PMID:23499832 20170418 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:3565 meningioma ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 3726 Smo smoothened, frizzled class receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733306 D RGD:2324981|PMID:16826192 20100518 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733306 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3726 Smo smoothened, frizzled class receptor gene DOID:4914 esophagus adenocarcinoma treatment IMP D RGD:150340553|PMID:23108119 20210812 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:4989 pancreatitis IEP D RGD:2324983|PMID:20062892 20100518 RGD protein:increased expression:pancreas 3726 Smo smoothened, frizzled class receptor gene DOID:5082 liver cirrhosis treatment IMP D RGD:150521663|PMID:22994359 20211115 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:733306 D RGD:150340552|PMID:17259107 20210812 RGD protein:increased expression:stomach 3726 Smo smoothened, frizzled class receptor gene DOID:630 genetic disease ISO RGD:733306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3726 Smo smoothened, frizzled class receptor gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:733306 D RGD:150340552|PMID:17259107 20210812 RGD protein:increased expression:stomach 3726 Smo smoothened, frizzled class receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733306 D RGD:150340548|PMID:25944162 20210812 RGD DNA:SNP: :rs3824 (human) 3726 Smo smoothened, frizzled class receptor gene DOID:687 hepatoblastoma ISO RGD:733306 D RGD:150521618|PMID:21159571 20211112 RGD protein:increased expression:liver 3726 Smo smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:150521620|PMID:23379358 20211112 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:150521621|PMID:33209614 20211112 RGD DNA:missense mutations 3726 Smo smoothened, frizzled class receptor gene DOID:9000066 Jaw Abnormalities ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16580747 3726 Smo smoothened, frizzled class receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:733306 D RGD:150520177|PMID:30784110 20211101 RGD associated with colorectal cancer 3726 Smo smoothened, frizzled class receptor gene DOID:9000392 Fluoride Poisoning treatment IMP D RGD:12879411|PMID:24388991 20170418 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9000438 Subarachnoid Hemorrhage treatment IDA D RGD:150521623|PMID:28149272 20211112 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733306 D RGD:150340555|PMID:23098507 20210812 RGD associated with colon cancer 3726 Smo smoothened, frizzled class receptor gene DOID:9001441 Adenomatous Polyps ISO RGD:735969 D RGD:150340551|PMID:19427313 20210812 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9002201 Maxillary Neoplasms ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 3726 Smo smoothened, frizzled class receptor gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:12879456|PMID:25821409 20170420 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 3726 Smo smoothened, frizzled class receptor gene DOID:9004464 Skin Neoplasms ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 3726 Smo smoothened, frizzled class receptor gene DOID:9005729 Chronic Experimental Pancreatitis IEP D RGD:12879405|PMID:24782623 20170418 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:733306 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 3726 Smo smoothened, frizzled class receptor gene DOID:9006151 Choroidal Neovascularization, Experimental treatment IMP D RGD:12859045|PMID:21063852 20170411 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9007456 Female Infertility ISO RGD:733306 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28560483 3726 Smo smoothened, frizzled class receptor gene DOID:9007502 Brain Neoplasms ISO RGD:733306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 3726 Smo smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:7240710 20200812 OMIM 3726 Smo smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: Hamartoma of the hypothalamus | ClinVar Annotator: match by term: Hypothalamic hamartoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30497210|PMID:32413283 3726 Smo smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:7240710 20190315 OMIM 3726 Smo smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Curry-Jones syndrome PMID:16531740|PMID:18798318|PMID:24728327|PMID:25741868|PMID:27236920|PMID:3144990|PMID:7606318 3726 Smo smoothened, frizzled class receptor gene DOID:9206 Barrett's esophagus treatment IMP D RGD:150340553|PMID:23108119 20210812 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733306 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 3726 Smo smoothened, frizzled class receptor gene DOID:9256 colorectal cancer ISO RGD:733306 D RGD:150520174|PMID:22901214 20211101 RGD 3726 Smo smoothened, frizzled class receptor gene DOID:9282 ocular hypertension IEP D RGD:2324982|PMID:20071678 20100518 RGD mRNA, protein:increased expression:retinal ganglion cell 3726 Smo smoothened, frizzled class receptor gene DOID:9675 pulmonary emphysema ISS RGD:735969 D RGD:13592920 20180927 MouseDO OMIM:130700 3728 Snap25 synaptosome associated protein 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 3728 Snap25 synaptosome associated protein 25 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:734151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 3728 Snap25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:7240710 20170315 OMIM 3728 Snap25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:17576681|PMID:25381298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33147442|PMID:33299146|PMID:9536098 3728 Snap25 synaptosome associated protein 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:1059 intellectual disability ISO RGD:734151 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:10907 microcephaly ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:734152 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 3728 Snap25 synaptosome associated protein 25 gene DOID:14250 Down syndrome ISO RGD:734151 D RGD:1579958|PMID:12499044 19990101 RGD 3728 Snap25 synaptosome associated protein 25 gene DOID:1596 depressive disorder ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3728 Snap25 synaptosome associated protein 25 gene DOID:1826 epilepsy ISO RGD:734151 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3728 Snap25 synaptosome associated protein 25 gene DOID:1826 epilepsy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 3728 Snap25 synaptosome associated protein 25 gene DOID:2234 focal epilepsy ISO RGD:734151 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:2303 stereotypic movement disorder ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:2468 psychotic disorder ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3728 Snap25 synaptosome associated protein 25 gene DOID:3312 bipolar disorder ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 3728 Snap25 synaptosome associated protein 25 gene DOID:3635 congenital myasthenic syndrome ISO RGD:734151 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3728 Snap25 synaptosome associated protein 25 gene DOID:3635 congenital myasthenic syndrome ISO RGD:734151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes 3728 Snap25 synaptosome associated protein 25 gene DOID:5419 schizophrenia ISS RGD:734152 D RGD:13592920 20180518 MouseDO OMIM:181500 3728 Snap25 synaptosome associated protein 25 gene DOID:5723 optic atrophy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:630 genetic disease ISO RGD:734151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 3728 Snap25 synaptosome associated protein 25 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:734151 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 3728 Snap25 synaptosome associated protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734151 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3728 Snap25 synaptosome associated protein 25 gene DOID:9005603 Muscle Hypotonia ISO RGD:734151 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Unilateral Hypotonia PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3728 Snap25 synaptosome associated protein 25 gene DOID:9007892 Tics ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 3728 Snap25 synaptosome associated protein 25 gene DOID:9008086 Developmental Disabilities ISO RGD:734151 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33299146 3728 Snap25 synaptosome associated protein 25 gene DOID:9245 Alagille syndrome ISO RGD:734151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 3728 Snap25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 3728 Snap25 synaptosome associated protein 25 gene DOID:9970 obesity ISS RGD:734152 D RGD:13592920 20180518 MouseDO OMIM:601665 3729 Snca synuclein alpha gene DOID:0050890 synucleinopathy ISO RGD:733186 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 3729 Snca synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:7240710 20130221 OMIM 3729 Snca synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17625105|PMID:18195271|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19632874|PMID:20340137|PMID:20437567|PMID:21252228|PMID:21559878|PMID:23404372|PMID:23427326|PMID:23457019|PMID:23526723|PMID:24047453|PMID:24158904|PMID:24158909|PMID:24313877|PMID:24315198|PMID:24728187|PMID:24746362|PMID:24936070|PMID:24984882|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26306801|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:29398121|PMID:30528390|PMID:31267130|PMID:33617693|PMID:9197268|PMID:9462735|PMID:9499430|PMID:9506559|PMID:9827625 3729 Snca synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:7240710 20130731 OMIM 3729 Snca synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 PMID:11376188|PMID:21559878|PMID:25741868|PMID:26858591|PMID:28492532|PMID:33617693 3729 Snca synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:733186 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:20464527|PMID:22319455|PMID:23046578|PMID:23295396|PMID:26075822|PMID:26558463|PMID:26687234|PMID:27026137|PMID:27324791 3729 Snca synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:6478799|PMID:15499605 20120312 RGD mRNA:decreased expression:brain 3729 Snca synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:6478802|PMID:15147505 20120312 RGD 3729 Snca synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:1302528|PMID:11572944 19990101 RGD human gene in a mouse model 3729 Snca synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:6478792|PMID:18577885 20120312 RGD protein:increased expression:cerebrospinal fluid 3729 Snca synuclein alpha gene DOID:11870 Pick's disease ISO RGD:733186 D RGD:6480200|PMID:12410393 20120314 RGD protein:increased expression:dentate gyrus 3729 Snca synuclein alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:733186 D RGD:13506723|PMID:18625222 20180207 RGD protein:increased expression:cerebral spinal fluid: 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16141792|PMID:19628769 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:13506723|PMID:18625222 20180207 RGD protein:decreased expression:cerebral spinal fluid: 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:6478704|PMID:20697047 20120308 RGD 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:6478792|PMID:18577885 20120312 RGD protein:increased expression:cerebrospinal fluid 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:6480095|PMID:10557341 20120313 RGD protein:increased expression:hippocampus 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:6480103|PMID:11733371 20120313 RGD 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:7240710 20130221 OMIM 3729 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755719|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:15498564|PMID:15632170|PMID:16001411|PMID:16199547|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17576681|PMID:17625105|PMID:18195271|PMID:18413475|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19139307|PMID:19632874|PMID:19833540|PMID:20340137|PMID:21252228|PMID:21559878|PMID:23427326|PMID:23457019|PMID:23674501|PMID:23880019|PMID:24047453|PMID:24313877|PMID:24552873|PMID:24746362|PMID:24752924|PMID:24936070|PMID:25003242|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:28666710|PMID:29398121|PMID:29771508|PMID:30528390|PMID:30598256|PMID:32786148|PMID:33617693|PMID:9197268|PMID:9499430|PMID:9506559|PMID:9536098|PMID:9827625 3729 Snca synuclein alpha gene DOID:1289 neurodegenerative disease ISO RGD:733186 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:17296847|PMID:18514411|PMID:26075822 3729 Snca synuclein alpha gene DOID:13548 secondary Parkinson disease ISO RGD:733186 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease IDA D RGD:730239|PMID:12122208 19990101 RGD 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:10450517|PMID:26501339 20160115 RGD 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:10450518|PMID:26223426 20160115 RGD 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:10450521|PMID:25639775 20160115 RGD 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:11535288|PMID:12151787|PMID:12732244|PMID:12885775|PMID:14535945|PMID:15099020|PMID:17131421|PMID:17690948|PMID:18322262|PMID:18353766|PMID:18841091|PMID:19915575|PMID:19915576|PMID:20664293|PMID:20711177|PMID:21245015|PMID:21892157|PMID:22043175|PMID:22110584|PMID:22166454|PMID:22185909|PMID:22355530|PMID:24509835|PMID:24833599|PMID:25064009|PMID:25106480|PMID:25149416|PMID:25475535|PMID:25631236 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:1302527|PMID:10678833 19990101 RGD human gene in a mouse model 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:13506646|PMID:18178617 20180206 RGD DNA:missense mutation:cds:p.S129A(human) 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:13506723|PMID:18625222 20180207 RGD protein:decreased expression:cerebral spinal fluid: 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:6478794|PMID:17448146 20120312 RGD 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:6480094|PMID:10651022 20120313 RGD protein:increased expression:astrocyte, oligodendroglial cell 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:6480196|PMID:9462735 20120314 RGD DNA:mutation:cds:p.A30P(human) 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:6480197|PMID:9197268 20120314 RGD DNA:mutation:cds:G209A(human) 3729 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:23427326|PMID:23457019|PMID:24047453|PMID:24752924|PMID:24936070|PMID:25393002|PMID:25741868|PMID:26341711|PMID:28492532|PMID:29398121|PMID:30528390 3729 Snca synuclein alpha gene DOID:1574 alcohol use disorder ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 3729 Snca synuclein alpha gene DOID:1596 depressive disorder IEP D RGD:6218960|PMID:18800064 20120307 RGD 3729 Snca synuclein alpha gene DOID:1596 depressive disorder ISO RGD:733186 D RGD:6478716|PMID:19198857 20120308 RGD 3729 Snca synuclein alpha gene DOID:1926 Gaucher's disease ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19576930 3729 Snca synuclein alpha gene DOID:3192 neurilemmoma IEP D RGD:6218996|PMID:11810180 20120308 RGD protein:increased expression:cytoplasm 3729 Snca synuclein alpha gene DOID:3312 bipolar disorder ISO RGD:733186 D RGD:6478716|PMID:19198857 20120308 RGD 3729 Snca synuclein alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:735748 D RGD:6480199|PMID:12657883 20120314 RGD protein:increased expression:brain 3729 Snca synuclein alpha gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733186 D RGD:6480098|PMID:10934140 20120313 RGD 3729 Snca synuclein alpha gene DOID:4752 multiple system atrophy ISO RGD:733186 D RGD:6480091|PMID:9749615 20120313 RGD protein:increased expression:oligodendrocyte 3729 Snca synuclein alpha gene DOID:5419 schizophrenia ISO RGD:733186 D RGD:6478716|PMID:19198857 20120308 RGD 3729 Snca synuclein alpha gene DOID:6000 congestive heart failure ISO RGD:733186 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 3729 Snca synuclein alpha gene DOID:630 genetic disease ISO RGD:733186 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3729 Snca synuclein alpha gene DOID:670 amphetamine abuse ISO RGD:733186 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:15542733|PMID:32278788 3729 Snca synuclein alpha gene DOID:670 amphetamine abuse treatment IMP D RGD:13506280|PMID:20551914 20180205 RGD 3729 Snca synuclein alpha gene DOID:8646 substance-induced psychosis ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15542733 3729 Snca synuclein alpha gene DOID:8692 myeloid leukemia ISO RGD:733186 D RGD:6478703|PMID:21264917 20120308 RGD 3729 Snca synuclein alpha gene DOID:8725 vascular dementia ISO RGD:733186 D RGD:6478792|PMID:18577885 20120312 RGD protein:increased expression:cerebrospinal fluid 3729 Snca synuclein alpha gene DOID:8725 vascular dementia ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 3729 Snca synuclein alpha gene DOID:893 Wilson disease ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 3729 Snca synuclein alpha gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:733186 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 3729 Snca synuclein alpha gene DOID:9000304 Manganese Poisoning ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23934647 3729 Snca synuclein alpha gene DOID:9000542 Animal Lameness ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23219665 3729 Snca synuclein alpha gene DOID:9000998 Brain Injuries IEP D RGD:11576302|PMID:25089700 20170106 RGD 3729 Snca synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:735748 D RGD:6480195|PMID:14637093 20120314 RGD 3729 Snca synuclein alpha gene DOID:9001981 Weight Loss ISO RGD:733186 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 3729 Snca synuclein alpha gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:733186 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 3729 Snca synuclein alpha gene DOID:9002955 Nerve Degeneration ISO RGD:733186 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21039522|PMID:23106139|PMID:27585560|PMID:34562559 3729 Snca synuclein alpha gene DOID:9004866 Ataxia ISO RGD:733186 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 3729 Snca synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 3729 Snca synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:6480198|PMID:12684441 20120314 RGD mRNA,protein:increased expression:dopamine neuron 3729 Snca synuclein alpha gene DOID:9006205 Animal Disease Models ISO RGD:733186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892157|PMID:26075822 3730 Snn stannin gene DOID:5419 schizophrenia ISO RGD:736222 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3730 Snn stannin gene DOID:630 genetic disease ISO RGD:736222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3731 SOD1 superoxide dismutase 1 gene DOID:319 spinal cord disease ISO RGD:12246481 D RGD:9068941 20230518 OMIA Degenerative myelopathy PMID:12592926|PMID:18196743|PMID:19188595|PMID:19276068|PMID:20732599|PMID:21628865|PMID:21848967|PMID:22105877|PMID:22542607|PMID:23328634|PMID:23707216|PMID:23839236|PMID:23990410|PMID:24069350|PMID:24450472|PMID:24524809|PMID:24662024|PMID:26401327|PMID:26432396|PMID:27185954|PMID:27387721|PMID:27838005|PMID:27917507|PMID:27941298|PMID:30273700|PMID:31336405|PMID:31914665|PMID:32219101|PMID:32742795|PMID:33196688|PMID:33494906|PMID:34166783|PMID:34316194|PMID:34544496|PMID:34830115|PMID:35364344|PMID:35804546|PMID:36615350|PMID:36848350|PMID:37106965|PMID:37156398|PMID:37179117|PMID:8143248 3731 Sod1 superoxide dismutase 1 gene DOID:0050700 cardiomyopathy ISO RGD:11329 D RGD:1581220|PMID:15890620 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:11329 D RGD:8655858|PMID:24418349 20140521 RGD mRNA:increased expression:prefrontal cortex, brain stem (mouse) 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:8967745|PMID:10764647|PMID:11181815|PMID:11346368|PMID:11675877|PMID:11796754|PMID:11951178|PMID:12127151|PMID:15096637|PMID:15264227|PMID:15522870|PMID:16105836|PMID:19227972|PMID:20485746|PMID:21140194|PMID:23612299|PMID:24163136|PMID:24256636|PMID:26694608 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:7240710 20130221 OMIM 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:737689|PMID:8446170 20140515 RGD DNA:missense mutations:cds:multiple (human) 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11369193|PMID:11464950|PMID:11467054|PMID:11676987|PMID:11854285|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16963403|PMID:17146286|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18951903|PMID:19063897|PMID:19074999|PMID:19165329|PMID:19176896|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632445|PMID:22647583|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:30626575|PMID:30637102|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32579787|PMID:32619288|PMID:32672072|PMID:32951934|PMID:32987860|PMID:33479441|PMID:34721532|PMID:7496169|PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8891072|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9228005|PMID:9365366|PMID:9409355 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:9455977|PMID:9556377|PMID:9743498|PMID:9817920|PMID:9857958 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11346368|PMID:11369193|PMID:11408340|PMID:11464950|PMID:11467054|PMID:11602336|PMID:11676987|PMID:11854285|PMID:11951178|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12210393|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12424972|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129803|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14759637|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15235802|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16435343|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16952453|PMID:16963403|PMID:17146286|PMID:17237124|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17453632|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17576681|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18852346|PMID:18951903|PMID:19000626|PMID:19063897|PMID:19074999|PMID:19091752|PMID:19165329|PMID:19176896|PMID:19196430|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20385392|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20515040|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22049684|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632444|PMID:22632445|PMID:22647583|PMID:22670878|PMID:22722621|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23118898|PMID:23182243|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23512985|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23853506|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23898858|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24769475|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26084641|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27090969|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28035186|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29540513|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:29982983|PMID:30029678|PMID:30626575|PMID:30637102|PMID:30887850|PMID:31086828|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32174179|PMID:32397312|PMID:32579787|PMID:32672072|PMID:32729724|PMID:32729725|PMID:32948071|PMID:32951934|PMID:32987860|PMID:33381076|PMID:33479441|PMID:33618928|PMID:33785574|PMID:34721532|PMID:7496169 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7870076|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9131652|PMID:9228005|PMID:9365366|PMID:9409355|PMID:9455977|PMID:9462467|PMID:9506558|PMID:9536098|PMID:9556377|PMID:9706719|PMID:9743498|PMID:9817920|PMID:9857958 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8655618|PMID:20184521 20140520 RGD DNA:missense mutation:cds:p.I113T (human) 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8655862|PMID:8815157 20140521 RGD DNA:missense mutations:cds:multiple (human) 3731 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8655873|PMID:10809943 20140521 RGD DNA:missense mutation:cds:p.D90A (human) 3731 Sod1 superoxide dismutase 1 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:11464950|PMID:11467054|PMID:12729761|PMID:12732844|PMID:12963370|PMID:14506936|PMID:14658402|PMID:15634772|PMID:17319283|PMID:19483195|PMID:20079423|PMID:20184515|PMID:21257910|PMID:21506602|PMID:21700707|PMID:21901496|PMID:22292843|PMID:22332887|PMID:22647583|PMID:23280792|PMID:23291526|PMID:23447461|PMID:23837654|PMID:24369116|PMID:24472010|PMID:25578810|PMID:25741868|PMID:26362407|PMID:26467025|PMID:26742954|PMID:26791423|PMID:28105640|PMID:28291249|PMID:28492532|PMID:7891072|PMID:8351519|PMID:8446170|PMID:9008494|PMID:9029070 3731 Sod1 superoxide dismutase 1 gene DOID:0060224 atrial fibrillation ISO RGD:730855 D RGD:8655869|PMID:21954878 20140521 RGD associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) 3731 Sod1 superoxide dismutase 1 gene DOID:0060319 cardiac arrest ISO RGD:11329 D RGD:1581221|PMID:15843790 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:0060326 myelomeningocele ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 3731 Sod1 superoxide dismutase 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:730855 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 3731 Sod1 superoxide dismutase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:730855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 3731 Sod1 superoxide dismutase 1 gene DOID:0080322 polycystic kidney disease IEP D RGD:8657020|PMID:23006058 20140528 RGD mRNA:decreased expression:kidney (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility IEP D RGD:21076282|PMID:20606728 20200313 RGD mRNA:decreased expression:liver (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:8655609|PMID:24168989 20140520 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISS RGD:11329 D RGD:13592920 20180518 MouseDO 3731 Sod1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:11329 D RGD:8655617|PMID:21736939 20140520 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:730855 D RGD:8158049|PMID:19293779 20140520 RGD human gene in a mouse model 3731 Sod1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease IEP D RGD:8657017|PMID:20027333 20140528 RGD mRNA:altered expression:hippocampus, hypothalamus (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11329 D RGD:8655610|PMID:22072713 20140520 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730855 D RGD:8655610|PMID:22072713 20140520 RGD protein:decreased expression:frontal lobe (human) 3731 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension IEP D RGD:1580833|PMID:16716903 19990101 RGD mRNA:decreased expression:rostral ventrolateral medulla (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:1581232|PMID:16864745 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:2312366|PMID:19403858 20090810 RGD associated with Hydronephrosis 3731 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9024144|PMID:25101153|PMID:32165127 3731 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:1600704|PMID:17198913 20070323 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension treatment ISO RGD:730855 D RGD:1580833|PMID:16716903 20140523 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:11054 urinary bladder cancer ISO RGD:730855 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 3731 Sod1 superoxide dismutase 1 gene DOID:11088 asphyxia neonatorum ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 3731 Sod1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy severity ISO RGD:730855 D RGD:8655638|PMID:21489258 20140520 RGD human gene in a rat model;DNA:missense mutation:cds:p.G93A (human) 3731 Sod1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy treatment IDA D RGD:8655979|PMID:15707675 20140527 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730855 D RGD:1600708|PMID:16338763 20070323 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3731 Sod1 superoxide dismutase 1 gene DOID:11758 iron deficiency anemia ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17057260 3731 Sod1 superoxide dismutase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:11329 D RGD:1581228|PMID:15531919 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 3731 Sod1 superoxide dismutase 1 gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:730855 D RGD:8655661|PMID:22574884 20140520 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) 3731 Sod1 superoxide dismutase 1 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:730855 D RGD:8655635|PMID:22958044 20140520 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) 3731 Sod1 superoxide dismutase 1 gene DOID:13241 Behcet's disease ISO RGD:730855 D RGD:1580846|PMID:12458889 19990101 RGD protein:increased activity:serum (human) 3731 Sod1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:730855 D RGD:8655579|PMID:21421868 20140516 RGD protein:decreased expression:serum (human) 3731 Sod1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISS RGD:11329 D RGD:13592920 20180518 MouseDO OMIM:606657 3731 Sod1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181815 3731 Sod1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:8655616|PMID:15464862 20140520 RGD human gene in a mouse model 3731 Sod1 superoxide dismutase 1 gene DOID:14323 Marfan syndrome ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3731 Sod1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15824117|PMID:16353238|PMID:21318773 3731 Sod1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:730855 D RGD:8655933|PMID:16353238 20140523 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:1459 hypothyroidism IEP D RGD:8655989|PMID:21607622 20140527 RGD mRNA:decreased expression:renal cortex (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:1459 hypothyroidism treatment IDA D RGD:8655983|PMID:22076484 20140527 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:1596 depressive disorder ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19605942 3731 Sod1 superoxide dismutase 1 gene DOID:1679 cystitis IEP D RGD:11035303|PMID:26109091 20160216 RGD mRNA:decreased expression:urinary bladder 3731 Sod1 superoxide dismutase 1 gene DOID:1793 pancreatic cancer ISO RGD:730855 D RGD:2317410|PMID:12499913 20100402 RGD protein:decreased expression:pancreas 3731 Sod1 superoxide dismutase 1 gene DOID:1936 atherosclerosis ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 3731 Sod1 superoxide dismutase 1 gene DOID:1936 atherosclerosis severity ISO RGD:11329 D RGD:8655856|PMID:20347443 20140521 RGD mRNA:decreased expression:thoracic aorta (mouse) 3731 Sod1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12629175|PMID:15829915|PMID:16538228|PMID:16868554 3731 Sod1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:8655885|PMID:21531066 20140522 RGD human protein in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:8655986|PMID:17110031 20140527 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:231 motor neuron disease ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16702190 3731 Sod1 superoxide dismutase 1 gene DOID:231 motor neuron disease ISO RGD:730855 D RGD:2290184|PMID:11717358 20200924 RGD human transgene in rat model 3731 Sod1 superoxide dismutase 1 gene DOID:231 motor neuron disease ISO RGD:730855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:15258228|PMID:16423367|PMID:16674979|PMID:17394531|PMID:17543992|PMID:18273717|PMID:18301754|PMID:18951903|PMID:19259395|PMID:19483195|PMID:20184521|PMID:20399791|PMID:20540686|PMID:21120636|PMID:21257910|PMID:21549128|PMID:22292843|PMID:23264618|PMID:23280792|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24325798|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:31788332|PMID:7635196|PMID:7673954|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658|PMID:8875253|PMID:9029070 3731 Sod1 superoxide dismutase 1 gene DOID:2316 brain ischemia ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11756504 3731 Sod1 superoxide dismutase 1 gene DOID:2527 nephrosis ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2273594 3731 Sod1 superoxide dismutase 1 gene DOID:2773 contact dermatitis ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 3731 Sod1 superoxide dismutase 1 gene DOID:2841 asthma ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 3731 Sod1 superoxide dismutase 1 gene DOID:2972 renal artery obstruction IEP D RGD:8655955|PMID:17959751 20140523 RGD protein:decreased expression:kidney (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:3021 acute kidney failure ISO RGD:730855 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3731 Sod1 superoxide dismutase 1 gene DOID:3070 high grade glioma ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11861405 3731 Sod1 superoxide dismutase 1 gene DOID:326 ischemia ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10698074 3731 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:7887412|PMID:9065559|PMID:10025816|PMID:10930589|PMID:11220737|PMID:11590119|PMID:11723166|PMID:12586733|PMID:12626432|PMID:12684256|PMID:16495328|PMID:17097207|PMID:17319283|PMID:17496168|PMID:18233996|PMID:19635794|PMID:19929749|PMID:20132483|PMID:20177826|PMID:20348957|PMID:20515040|PMID:21867702|PMID:22537108|PMID:23027932|PMID:23280792|PMID:23583883|PMID:24885036|PMID:25164820|PMID:26630559|PMID:28038988|PMID:28478440|PMID:29374221|PMID:29419416|PMID:29434186|PMID:29649360|PMID:30503815 3731 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:2312367|PMID:18947433 20090810 RGD human gene in a rat model;DNA:missense mutation:cds:p.G93A (human) 3731 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:10439968|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11369193|PMID:11467054|PMID:11997070|PMID:12442272|PMID:12482932|PMID:14506936|PMID:14517684|PMID:14623191|PMID:15069187|PMID:15258228|PMID:15465081|PMID:15952898|PMID:16020530|PMID:16945901|PMID:17146286|PMID:17255946|PMID:17420412|PMID:17483589|PMID:18319614|PMID:18428003|PMID:18608106|PMID:18951903|PMID:19344917|PMID:19483195|PMID:19635794|PMID:19703565|PMID:19922148|PMID:19965850|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20460594|PMID:20540686|PMID:22264771|PMID:22292843|PMID:22475618|PMID:22632444|PMID:23062701|PMID:23100398|PMID:23280792|PMID:23962495|PMID:25025039|PMID:25052939|PMID:25299611|PMID:25509359|PMID:25600987|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26362407|PMID:26467025|PMID:26742954|PMID:27348463|PMID:28105640|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29861044|PMID:30637102|PMID:31788332|PMID:7647793|PMID:7655469|PMID:7836951|PMID:8298637|PMID:8813280|PMID:8875253|PMID:8909456|PMID:9365366|PMID:9817920 3731 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:8655880|PMID:23147550 20140521 RGD protein:increased expression:cerebrospinal fluid (human) 3731 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:730855 D RGD:13524551|PMID:26826269 20180419 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:3393 coronary artery disease ISO RGD:730855 D RGD:1600708|PMID:16338763 20070323 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3731 Sod1 superoxide dismutase 1 gene DOID:3491 Turner syndrome ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3731 Sod1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:8657023|PMID:22133807 20140528 RGD mRNA, protein:increased expression:cerebral cortex (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:8657021|PMID:22001340 20140528 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:3687 MELAS syndrome ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 3731 Sod1 superoxide dismutase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730855 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 3731 Sod1 superoxide dismutase 1 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:11035301|PMID:26534761 20160216 RGD mRNA:decreased expression:lung 3731 Sod1 superoxide dismutase 1 gene DOID:409 liver disease ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17877538 3731 Sod1 superoxide dismutase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:730855 D RGD:1642027|PMID:17272778 20140527 RGD associated with Ischemic Attack, Transient; human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:4448 macular degeneration ISO RGD:11329 D RGD:1581207|PMID:16844785 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:730855 D RGD:8655651|PMID:23848218 20140520 RGD protein:increased expression:serum (human) 3731 Sod1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease IEP D RGD:1358244|PMID:15337829 20101220 RGD Copper Deficiency; protein:decreased activity:erythrocyte (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 3731 Sod1 superoxide dismutase 1 gene DOID:520 aortic disease ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3731 Sod1 superoxide dismutase 1 gene DOID:5434 scrapie ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11701772 3731 Sod1 superoxide dismutase 1 gene DOID:576 proteinuria ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2273594 3731 Sod1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:11329 D RGD:1581222|PMID:11864929 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21600015 3731 Sod1 superoxide dismutase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:730855 D RGD:8655953|PMID:22006090 20140523 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:6000 congestive heart failure ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 3731 Sod1 superoxide dismutase 1 gene DOID:630 genetic disease ISO RGD:730855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506936|PMID:16674979|PMID:18504130|PMID:19363716|PMID:21603025|PMID:23949607|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28620717|PMID:8938700|PMID:9365366 3731 Sod1 superoxide dismutase 1 gene DOID:649 prion disease disease_progression ISO RGD:11329 D RGD:13782160|PMID:23349894 20180824 RGD DNA:SNP:intron 3731 Sod1 superoxide dismutase 1 gene DOID:649 prion disease disease_progression ISO RGD:730855 D RGD:13782161|PMID:18559949 20180824 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:678 progressive supranuclear palsy ISO RGD:730855 D RGD:8655859|PMID:11879807 20140521 RGD protein:increased activity:brain (human) 3731 Sod1 superoxide dismutase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730855 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 3731 Sod1 superoxide dismutase 1 gene DOID:767 muscular atrophy ISO RGD:730855 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29374221 3731 Sod1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 3731 Sod1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism treatment IDA D RGD:8655984|PMID:22476324 20140527 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:11329 D RGD:2312362|PMID:19324844 20090810 RGD associated with Diabetes Mellitus, Experimental 3731 Sod1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:1581192|PMID:16254550 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:8655570|PMID:23970468 20140515 RGD mRNA:decreased expression:eye lens (human) 3731 Sod1 superoxide dismutase 1 gene DOID:83 cataract susceptibility ISO RGD:730855 D RGD:8655573|PMID:21921984 20140515 RGD DNA:snp:intron:IVS3-251A>G (rs2070424) (human) 3731 Sod1 superoxide dismutase 1 gene DOID:8466 retinal degeneration ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16741961|PMID:19074809 3731 Sod1 superoxide dismutase 1 gene DOID:863 nervous system disease ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 3731 Sod1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19074809 3731 Sod1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:8655572|PMID:19074809 20140515 RGD human gene in a mouse model 3731 Sod1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17457363 3731 Sod1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:8655939|PMID:18722523 20140523 RGD human protein in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:8655990|PMID:16689664 20140527 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:9000307 Presbycusis ISO RGD:11329 D RGD:8655636|PMID:11678164 20140520 RGD mRNA:increased expression:cochlea (mouse) 3731 Sod1 superoxide dismutase 1 gene DOID:9000307 Presbycusis severity ISO RGD:11329 D RGD:8655665|PMID:10464373 20140520 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730855 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 3731 Sod1 superoxide dismutase 1 gene DOID:9000403 Animal Mammary Neoplasms IEP D RGD:8657018|PMID:17157473 20140528 RGD protein:decreased expression:mammary gland (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:7240710 20191016 OMIM 3731 Sod1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive PMID:15050437|PMID:15208263|PMID:16945901|PMID:20075587|PMID:20472325|PMID:23280792|PMID:25741868|PMID:28492532|PMID:29982983|PMID:31314961|PMID:31332433 3731 Sod1 superoxide dismutase 1 gene DOID:9000815 Aortic Calcification IEP D RGD:11038653|PMID:25430697 20160218 RGD associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta 3731 Sod1 superoxide dismutase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22247605 3731 Sod1 superoxide dismutase 1 gene DOID:9000918 Disease Progression ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9000998 Brain Injuries ISO RGD:11329 D RGD:1581214|PMID:16248885 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:11329 D RGD:1581207|PMID:16844785 20140521 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:730855 D RGD:9587792|PMID:11266387 20141020 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:1581230|PMID:16540901 19990101 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) 3731 Sod1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:8547534|PMID:23921602 20140217 RGD associated with Rhinosinusitis;protein:decreased expression:nasal mucosa: 3731 Sod1 superoxide dismutase 1 gene DOID:9001592 Pathological Protein Aggregation ISO RGD:730855 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:29649360 3731 Sod1 superoxide dismutase 1 gene DOID:9001981 Weight Loss ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730855 D RGD:1581095|PMID:11779401 20140527 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730855 D RGD:8655889|PMID:16555330 20140522 RGD human gene in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11329 D RGD:2312361|PMID:19470681 20090810 RGD protein:decreased expression:kidney 3731 Sod1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:2312365|PMID:17914031 20090810 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple 3731 Sod1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:8655571|PMID:11522679 20140515 RGD human gene in a mouse model 3731 Sod1 superoxide dismutase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21893188 3731 Sod1 superoxide dismutase 1 gene DOID:9002315 Kidney Calculi ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 3731 Sod1 superoxide dismutase 1 gene DOID:9002395 Hypothermia ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11731100 3731 Sod1 superoxide dismutase 1 gene DOID:9002669 Hypoxia treatment IDA D RGD:8657026|PMID:21453737 20140528 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179351 3731 Sod1 superoxide dismutase 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16564582 3731 Sod1 superoxide dismutase 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11329 D RGD:8655606|PMID:16741961 20140519 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:11329 D RGD:8655966|PMID:10436316 20140521 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:8655611|PMID:19895330 20140520 RGD DNA:snps, haplotypes:introns:multiple (human) 3731 Sod1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:8655851|PMID:22931816 20140521 RGD DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) 3731 Sod1 superoxide dismutase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:17581637|PMID:19243126|PMID:24885036|PMID:24918341 3731 Sod1 superoxide dismutase 1 gene DOID:9003603 Hemolysis ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 3731 Sod1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11329 D RGD:1580834|PMID:15364863 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15364863|PMID:16397181|PMID:23061969|PMID:23743330 3731 Sod1 superoxide dismutase 1 gene DOID:9004484 Sepsis IEP D RGD:11035300|PMID:26266917 20160216 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:11329 D RGD:1581213|PMID:16055286 20140519 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11474137 3731 Sod1 superoxide dismutase 1 gene DOID:9004989 Protein Deficiency ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16214328 3731 Sod1 superoxide dismutase 1 gene DOID:9005246 Paralysis ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9005372 Inflammation ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 3731 Sod1 superoxide dismutase 1 gene DOID:9005452 Ureteral Calculi ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 3731 Sod1 superoxide dismutase 1 gene DOID:9005532 Muscle Weakness ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8655956|PMID:20924670 20140523 RGD protein:increased expression:hippocampus (rat) 3731 Sod1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 3731 Sod1 superoxide dismutase 1 gene DOID:9005749 Necrosis ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9548797 3731 Sod1 superoxide dismutase 1 gene DOID:9006024 Hypotension ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9024144 3731 Sod1 superoxide dismutase 1 gene DOID:9006205 Animal Disease Models ISO RGD:730855 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:12586733|PMID:12684256|PMID:19227972|PMID:20177826|PMID:21867702|PMID:23583883|PMID:24885036|PMID:28038988|PMID:28123103|PMID:29374221|PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21867702 3731 Sod1 superoxide dismutase 1 gene DOID:9006617 Fatigue ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:28123103 3731 Sod1 superoxide dismutase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730855 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3731 Sod1 superoxide dismutase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19951287 3731 Sod1 superoxide dismutase 1 gene DOID:9007096 Stroke ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10698074 3731 Sod1 superoxide dismutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730855 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:27349771 3731 Sod1 superoxide dismutase 1 gene DOID:9007402 Gliosis ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:24918341|PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730855 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:2982513|PMID:21742780 3731 Sod1 superoxide dismutase 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:11329 D RGD:8655607|PMID:19142872 20140520 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:8655965|PMID:23629152 20140523 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:11035287|PMID:12668130 20160215 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:8655884|PMID:19277497 20140522 RGD human protein in a rat model 3731 Sod1 superoxide dismutase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 3731 Sod1 superoxide dismutase 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730855 D RGD:9479188|PMID:9892499 20140902 RGD protein:increased activity:erythrocyte: 3731 Sod1 superoxide dismutase 1 gene DOID:9282 ocular hypertension IEP D RGD:2303613|PMID:18626730 20090810 RGD protein:decreased expression:retina 3731 Sod1 superoxide dismutase 1 gene DOID:9351 diabetes mellitus ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23786522 3731 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11329 D RGD:1581216|PMID:16005359 19990101 RGD 3731 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 3731 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:2312363|PMID:19317795 20090810 RGD protein:decreased expression:erythrocyte 3731 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:2312364|PMID:18423055 20090810 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) 3731 Sod1 superoxide dismutase 1 gene DOID:9452 fatty liver disease ISO RGD:730855 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27349771 3731 Sod1 superoxide dismutase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730855 D RGD:2312364|PMID:18423055 20090810 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) 3731 Sod1 superoxide dismutase 1 gene DOID:9923 developmental coordination disorder ISO RGD:730855 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 3731 Sod1 superoxide dismutase 1 gene DOID:9970 obesity ISO RGD:730855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 3732 Sod2 superoxide dismutase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 3732 Sod2 superoxide dismutase 2 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10428046 3732 Sod2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:11330 D RGD:1581220|PMID:15890620 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23536361 3732 Sod2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:1580836|PMID:15591282 19990101 RGD associated with hemochromatosis;DNA:polymorphism: :p.A16V (human) 3732 Sod2 superoxide dismutase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 3732 Sod2 superoxide dismutase 2 gene DOID:0050855 renal fibrosis ISO RGD:11330 D RGD:7175536|PMID:19458120 20121206 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332|PMID:21472284 3732 Sod2 superoxide dismutase 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISS RGD:11330 D RGD:13592920 20180518 MouseDO OMIM:105400 3732 Sod2 superoxide dismutase 2 gene DOID:0060326 myelomeningocele ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 3732 Sod2 superoxide dismutase 2 gene DOID:0080132 Sengers syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23266196 3732 Sod2 superoxide dismutase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:730872 D RGD:1581245|PMID:15094225 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11330 D RGD:11352823|PMID:24597775 20200514 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15887859 3732 Sod2 superoxide dismutase 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility IEP D RGD:21076282|PMID:20606728 20200313 RGD mRNA:decreased expression:liver (rat) 3732 Sod2 superoxide dismutase 2 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility ISO RGD:730872 D RGD:26923960|PMID:24649902 20200513 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 3732 Sod2 superoxide dismutase 2 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 3732 Sod2 superoxide dismutase 2 gene DOID:10003 sensorineural hearing loss IEP D RGD:8547516|PMID:15109710 20140213 RGD protein:increased activity:cochlea: 3732 Sod2 superoxide dismutase 2 gene DOID:10534 stomach cancer ISO RGD:730872 D RGD:1581255|PMID:12469139 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:11330 D RGD:8158049|PMID:19293779 20140206 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 3732 Sod2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 3732 Sod2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:1579972|PMID:16369462 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:730872 D RGD:8158079|PMID:23638916 20140207 RGD DNA:polymorphism: :rs2842980(human) 3732 Sod2 superoxide dismutase 2 gene DOID:10763 hypertension IDA D RGD:1580833|PMID:16716903 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:21593737|PMID:25101153 3732 Sod2 superoxide dismutase 2 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:730872 D RGD:8158102|PMID:18573360 20140210 RGD DNA:polymorphism:cds:p.V16A(rs4880)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729580|PMID:18930813 3732 Sod2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:7175539|PMID:17974967 20121206 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 3732 Sod2 superoxide dismutase 2 gene DOID:11335 sarcoidosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 3732 Sod2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome IEP D RGD:11035305|PMID:25070658 20160216 RGD mRNA:increased expression:lung 3732 Sod2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 3732 Sod2 superoxide dismutase 2 gene DOID:11476 osteoporosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 3732 Sod2 superoxide dismutase 2 gene DOID:11476 osteoporosis no_association ISO RGD:730872 D RGD:11035299|PMID:26336112 20160216 RGD DNA:SNPs:5' utr, exon, intron:multiple 3732 Sod2 superoxide dismutase 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:730872 D RGD:11035299|PMID:26336112 20160216 RGD DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) 3732 Sod2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:7240710 20130221 OMIM 3732 Sod2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM PMID:10425186|PMID:12624725|PMID:15591282|PMID:16538174|PMID:17192491|PMID:8633092 3732 Sod2 superoxide dismutase 2 gene DOID:11714 gestational diabetes ISO RGD:730872 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:23956348|PMID:30738174|PMID:34175429 3732 Sod2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:11035285|PMID:9152291 20160215 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9152291 3732 Sod2 superoxide dismutase 2 gene DOID:11963 esophagitis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11121210 3732 Sod2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:11330 D RGD:8158052|PMID:17251466 20140206 RGD associated with Encephalomyelitis, Autoimmune, Experimental; 3732 Sod2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:730872 D RGD:8158052|PMID:17251466 20140206 RGD associated with Encephalomyelitis, Autoimmune, Experimental; 3732 Sod2 superoxide dismutase 2 gene DOID:12217 Lewy body dementia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 3732 Sod2 superoxide dismutase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730872 D RGD:2317411|PMID:1682406 20100405 RGD protein:increased expression:serum 3732 Sod2 superoxide dismutase 2 gene DOID:12306 vitiligo disease_progression ISO RGD:730872 D RGD:8547522|PMID:24036105 20140213 RGD DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) 3732 Sod2 superoxide dismutase 2 gene DOID:12336 male infertility ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22206979 3732 Sod2 superoxide dismutase 2 gene DOID:12556 acute kidney tubular necrosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19917352 3732 Sod2 superoxide dismutase 2 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11907800|PMID:14680979 3732 Sod2 superoxide dismutase 2 gene DOID:12858 Huntington's disease susceptibility ISO RGD:11330 D RGD:13464352|PMID:11161607 20180105 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:1289 neurodegenerative disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 3732 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:1581260|PMID:11677043 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16155095|PMID:21195081 3732 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:1580837|PMID:10425186 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:13141 uveitis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 3732 Sod2 superoxide dismutase 2 gene DOID:1324 lung cancer ISO RGD:730872 D RGD:1581247|PMID:15213518 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:7794853|PMID:18055805 20140213 RGD associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris: 3732 Sod2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:8158048|PMID:23805041 20140206 RGD associated with cataract;mRNA:increased expression:lens epithelium: 3732 Sod2 superoxide dismutase 2 gene DOID:1389 polyneuropathy ISO RGD:730872 D RGD:1581254|PMID:12815947 20180131 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.A-9V (human) 3732 Sod2 superoxide dismutase 2 gene DOID:13948 bladder neck obstruction IEP D RGD:7175518|PMID:21060756 20121205 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 3732 Sod2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:730872 D RGD:11060603|PMID:26873981 20200513 RGD DNA:SNP: : 47T>C(human) 3732 Sod2 superoxide dismutase 2 gene DOID:14323 Marfan syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3732 Sod2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17188257|PMID:18353766|PMID:25279756 3732 Sod2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:11330 D RGD:13464352|PMID:11161607 20180105 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730872 D RGD:1581253|PMID:12946273 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:11330 D RGD:8158045|PMID:14679299 20140206 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11165872|PMID:11278550|PMID:11853549|PMID:12032862|PMID:17632733|PMID:19676086 3732 Sod2 superoxide dismutase 2 gene DOID:1459 hypothyroidism treatment IEP D RGD:38549578|PMID:29896255 20200902 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:1470 major depressive disorder ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 3732 Sod2 superoxide dismutase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 3732 Sod2 superoxide dismutase 2 gene DOID:1555 urticaria ISO RGD:730872 D RGD:8547524|PMID:12780723 20140213 RGD protein:increased expression:skin 3732 Sod2 superoxide dismutase 2 gene DOID:1612 breast cancer ISO RGD:730872 D RGD:1581240|PMID:15883815 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:1679 cystitis IEP D RGD:11035303|PMID:26109091 20160216 RGD mRNA:decreased expression:urinary bladder 3732 Sod2 superoxide dismutase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 3732 Sod2 superoxide dismutase 2 gene DOID:178 vascular disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 3732 Sod2 superoxide dismutase 2 gene DOID:1790 malignant mesothelioma ISO RGD:730872 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:20617513 3732 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17895890 3732 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:1581235|PMID:12700280 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730872 D RGD:2317410|PMID:12499913 20100402 RGD protein:decreased expression:pancreas 3732 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730872 D RGD:2317406|PMID:18205184 20100402 RGD DNA:polymorphism:cds:p.A16V (human) 3732 Sod2 superoxide dismutase 2 gene DOID:1824 status epilepticus IEP D RGD:11035304|PMID:25333348 20160216 RGD mRNA, protein:increased expression:hippocampus 3732 Sod2 superoxide dismutase 2 gene DOID:1909 melanoma ISO RGD:730872 D RGD:8547533|PMID:8541726 20140217 RGD protein:increased expression:serum: 3732 Sod2 superoxide dismutase 2 gene DOID:1936 atherosclerosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 3732 Sod2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 3732 Sod2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:27095883|PMID:30716316 20200514 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:11330 D RGD:1625695|PMID:10212301 20070621 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15060315|PMID:17901229|PMID:19429140 3732 Sod2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:11330 D RGD:1581262|PMID:8790408 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 3732 Sod2 superoxide dismutase 2 gene DOID:2394 ovarian cancer ISO RGD:730872 D RGD:1581239|PMID:16179351 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:2615 papilloma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11507057 3732 Sod2 superoxide dismutase 2 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:730872 D RGD:8547520|PMID:17693525 20140213 RGD DNA:polymorphism:cds:c.47C>T(rs4880)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:730872 D RGD:11060605|PMID:27019981 20200514 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:2841 asthma ISO RGD:730872 D RGD:1581231|PMID:15743779 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:299 adenocarcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 3732 Sod2 superoxide dismutase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 3732 Sod2 superoxide dismutase 2 gene DOID:305 carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990 3732 Sod2 superoxide dismutase 2 gene DOID:3082 interstitial lung disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 3732 Sod2 superoxide dismutase 2 gene DOID:326 ischemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11328670|PMID:18227068 3732 Sod2 superoxide dismutase 2 gene DOID:331 central nervous system disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10942521 3732 Sod2 superoxide dismutase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8866423 3732 Sod2 superoxide dismutase 2 gene DOID:3407 carotid artery disease ISO RGD:730872 D RGD:1580838|PMID:12732398 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:3429 inclusion body myositis ISO RGD:730872 D RGD:1581257|PMID:11837748 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:3491 Turner syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3732 Sod2 superoxide dismutase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 3732 Sod2 superoxide dismutase 2 gene DOID:3613 Canavan disease ISS RGD:11330 D RGD:13592920 20180518 MouseDO OMIM:271900 3732 Sod2 superoxide dismutase 2 gene DOID:3652 Leigh disease ISS RGD:11330 D RGD:13592920 20180518 MouseDO OMIM:220111 | OMIM:256000 3732 Sod2 superoxide dismutase 2 gene DOID:3687 MELAS syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 3732 Sod2 superoxide dismutase 2 gene DOID:37 skin disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3732 Sod2 superoxide dismutase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730872 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:18167182|PMID:21517111 3732 Sod2 superoxide dismutase 2 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:11035301|PMID:26534761 20160216 RGD mRNA:decreased expression:lung 3732 Sod2 superoxide dismutase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11731445|PMID:17094902 3732 Sod2 superoxide dismutase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730872 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 3732 Sod2 superoxide dismutase 2 gene DOID:417 autoimmune disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 3732 Sod2 superoxide dismutase 2 gene DOID:4448 macular degeneration ISO RGD:11330 D RGD:8158047|PMID:17898259 20140206 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 3732 Sod2 superoxide dismutase 2 gene DOID:4661 multiple chemical sensitivity ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23967348 3732 Sod2 superoxide dismutase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11328670 3732 Sod2 superoxide dismutase 2 gene DOID:4914 esophagus adenocarcinoma IDA D RGD:2317403|PMID:17785574 20100402 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis ISO RGD:730872 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 3732 Sod2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:730872 D RGD:26923907|PMID:19731237 20200512 RGD DNA:SNP:cds:p.Ala16Val(rs1799725)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:520 aortic disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 3732 Sod2 superoxide dismutase 2 gene DOID:5295 intestinal disease treatment IDA D RGD:11035302|PMID:26301045 20160216 RGD associated with Shock, Hemorrhagic 3732 Sod2 superoxide dismutase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730872 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 3732 Sod2 superoxide dismutase 2 gene DOID:557 kidney disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19917352|PMID:21571061 3732 Sod2 superoxide dismutase 2 gene DOID:574 peripheral nervous system disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 3732 Sod2 superoxide dismutase 2 gene DOID:583 hemolytic anemia ISO RGD:11330 D RGD:11035277|PMID:11304553 20160215 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:5844 myocardial infarction IDA D RGD:1581148|PMID:14575298 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:5844 myocardial infarction IEP D RGD:1580839|PMID:9250167 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12160945 3732 Sod2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16105639|PMID:16155095|PMID:20304815|PMID:21195081|PMID:21284947 3732 Sod2 superoxide dismutase 2 gene DOID:6196 reactive arthritis ISO RGD:730872 D RGD:1581251|PMID:14687717 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:630 genetic disease ISO RGD:730872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3732 Sod2 superoxide dismutase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 3732 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:18760346|PMID:19731237|PMID:21472284|PMID:33010264 3732 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:1581242|PMID:15869407 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:27095881|PMID:31041878 20200514 RGD protein:increased expression:saliva 3732 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730872 D RGD:26923955|PMID:27221200 20200513 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730872 D RGD:26923907|PMID:19731237 20200512 RGD associated with liver cirrhosis; DNA:SNP:cds:p.Ala16Val(rs1799725)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9917329 3732 Sod2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:11330 D RGD:8158104|PMID:12601034 20140210 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy treatment ISO RGD:730872 D RGD:8158101|PMID:15293270 20140210 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:15292528|PMID:24313545 3732 Sod2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1625699|PMID:17196988 20070621 RGD mRNA, protein:increased expression:aorta 3732 Sod2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 3732 Sod2 superoxide dismutase 2 gene DOID:7998 hyperthyroidism ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 3732 Sod2 superoxide dismutase 2 gene DOID:8398 osteoarthritis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:18784066|PMID:22108257 3732 Sod2 superoxide dismutase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 3732 Sod2 superoxide dismutase 2 gene DOID:850 lung disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8063194 3732 Sod2 superoxide dismutase 2 gene DOID:8568 infectious mononucleosis ISO RGD:730872 D RGD:11035288|PMID:7964476 20160215 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:8646 substance-induced psychosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16807759 3732 Sod2 superoxide dismutase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 3732 Sod2 superoxide dismutase 2 gene DOID:8691 mycosis fungoides ISO RGD:730872 D RGD:8547521|PMID:20833513 20140213 RGD protein:increased expression:skin: 3732 Sod2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 3732 Sod2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:8547526|PMID:7744320 20140213 RGD mRNA:increased expression:skin: 3732 Sod2 superoxide dismutase 2 gene DOID:8955 sideroblastic anemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16910769|PMID:21326867 3732 Sod2 superoxide dismutase 2 gene DOID:9000025 Central Nervous System Infections ISO RGD:730872 D RGD:1581246|PMID:15337840 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9000064 Cardiac Arrhythmias IDA D RGD:1581234|PMID:15454275 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:19381893|PMID:20618948 3732 Sod2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730872 D RGD:8547519|PMID:20618948 20140213 RGD associated with tongue neoplasms; 3732 Sod2 superoxide dismutase 2 gene DOID:9000111 Radiation Injuries ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16540396|PMID:21945096 3732 Sod2 superoxide dismutase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11053990|PMID:15986332 3732 Sod2 superoxide dismutase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:14503839|PMID:19424620|PMID:25279216 3732 Sod2 superoxide dismutase 2 gene DOID:9000307 Presbycusis IEP D RGD:8158103|PMID:24505357 20140210 RGD protein:decreased expression,decreased activity:auditory cortex: 3732 Sod2 superoxide dismutase 2 gene DOID:9000582 Reticulocytosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 3732 Sod2 superoxide dismutase 2 gene DOID:9000784 Fibrosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 3732 Sod2 superoxide dismutase 2 gene DOID:9000815 Aortic Calcification IEP D RGD:11038653|PMID:25430697 20160218 RGD associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta 3732 Sod2 superoxide dismutase 2 gene DOID:9000837 Esophageal Stenosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11121210 3732 Sod2 superoxide dismutase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11121210|PMID:20726721 3732 Sod2 superoxide dismutase 2 gene DOID:9000918 Disease Progression ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686|PMID:18930813|PMID:20618948|PMID:21749277|PMID:22547077 3732 Sod2 superoxide dismutase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:18930813|PMID:19487542|PMID:22580338 3732 Sod2 superoxide dismutase 2 gene DOID:9000972 Fever ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11165872 3732 Sod2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:11330 D RGD:1581214|PMID:16248885 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24462953 3732 Sod2 superoxide dismutase 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:11330 D RGD:27095880|PMID:32236798 20200514 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9001312 Tardive Dyskinesia ISO RGD:730872 D RGD:1581250|PMID:12960753 20180130 RGD associated with schizophrenia 3732 Sod2 superoxide dismutase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730872 D RGD:8547534|PMID:23921602 20140217 RGD associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: 3732 Sod2 superoxide dismutase 2 gene DOID:9001542 Albuminuria ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 3732 Sod2 superoxide dismutase 2 gene DOID:9001607 Hypopharyngeal Neoplasms susceptibility ISO RGD:730872 D RGD:8158078|PMID:21940907 20140207 RGD DNA:polymorphism: :rs5746134(human) 3732 Sod2 superoxide dismutase 2 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 3732 Sod2 superoxide dismutase 2 gene DOID:9001708 Hemorrhagic Shock treatment IEP D RGD:26923954|PMID:26073907 20200513 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:8158043|PMID:22240151 20140206 RGD protein:decreased activity:retina: 3732 Sod2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:730872 D RGD:8158043|PMID:22240151 20140206 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 3732 Sod2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension IEP D RGD:27095884|PMID:20529999 20200514 RGD protein:decreased expression:pulmonary artery 3732 Sod2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730872 D RGD:27095884|PMID:20529999 20200514 RGD protein:decreased expression:small pulmonary artery 3732 Sod2 superoxide dismutase 2 gene DOID:9001946 Skin Abnormalities ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24494196 3732 Sod2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24819633 3732 Sod2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:7175540|PMID:17192491 20121207 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 3732 Sod2 superoxide dismutase 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 3732 Sod2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12592389|PMID:17465268|PMID:17646272|PMID:18829485|PMID:19074884|PMID:22564066|PMID:23315858|PMID:26468117 3732 Sod2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:1581244|PMID:15512801 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9002669 Hypoxia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18258771|PMID:19579223 3732 Sod2 superoxide dismutase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16179351|PMID:18594523 3732 Sod2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:8158044|PMID:15345661 20140206 RGD DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human) 3732 Sod2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:8158046|PMID:20534900 20140206 RGD DNA:SNP:cds:p.V16A(rs4880)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 3732 Sod2 superoxide dismutase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11146106 3732 Sod2 superoxide dismutase 2 gene DOID:9003507 Premature Birth ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 3732 Sod2 superoxide dismutase 2 gene DOID:9003566 Mesothelioma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9533946|PMID:11283936|PMID:15039138|PMID:17290392 3732 Sod2 superoxide dismutase 2 gene DOID:9003936 Cardiomegaly ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 3732 Sod2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:1582141|PMID:15612529 20070621 RGD protein:increased expression:liver 3732 Sod2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8215636|PMID:16682413|PMID:19193722|PMID:19917352|PMID:21940958|PMID:23743330 3732 Sod2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:1581259|PMID:15087276 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:11330 D RGD:8547517|PMID:12032821 20140213 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11507057|PMID:20454814|PMID:22009531|PMID:25362851 3732 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:8547532|PMID:15130280 20140217 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:11330 D RGD:8547525|PMID:22009531 20140213 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9004484 Sepsis IEP D RGD:11035300|PMID:26266917 20160216 RGD mRNA, protein:increased expression:lung 3732 Sod2 superoxide dismutase 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730872 D RGD:11035278|PMID:20309628 20160215 RGD associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) 3732 Sod2 superoxide dismutase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:730872 D RGD:1581241|PMID:15887859 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990|PMID:15048980|PMID:15654357|PMID:21749277|PMID:22580338 3732 Sod2 superoxide dismutase 2 gene DOID:9005036 Bacteremia ISO RGD:11330 D RGD:26923958|PMID:24253037 20200513 RGD mRNA:increased expression:liver: 3732 Sod2 superoxide dismutase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 3732 Sod2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2317382|PMID:19891634 20100401 RGD protein:increased activity:testes 3732 Sod2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15855331|PMID:23090186 3732 Sod2 superoxide dismutase 2 gene DOID:9005749 Necrosis ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9548797|PMID:19293248 3732 Sod2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 3732 Sod2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:8547519|PMID:20618948 20140213 RGD mRNA,protein:increased expression:tongue: 3732 Sod2 superoxide dismutase 2 gene DOID:9005930 Endotoxemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 3732 Sod2 superoxide dismutase 2 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:11330 D RGD:26923956|PMID:28875871 20200513 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9006924 Cardiogenic Shock ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062213 3732 Sod2 superoxide dismutase 2 gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:1625694|PMID:11477087 20070621 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:11330 D RGD:1581233|PMID:15681709 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3732 Sod2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 3732 Sod2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:730872 D RGD:8158078|PMID:21940907 20140207 RGD DNA:polymorphism: :rs4342445(human) 3732 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 3732 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity IMP D RGD:26923961|PMID:19647030 20200513 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:11330 D RGD:26923959|PMID:19332662 20200513 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730872 D RGD:26923957|PMID:20578157 20200513 RGD DNA:SNP:cds:p.Val16Ala(human) 3732 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730872 D RGD:11060605|PMID:27019981 20200514 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) 3732 Sod2 superoxide dismutase 2 gene DOID:9007480 Hyperoxia IEP D RGD:729952|PMID:2001291 20160216 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21749277 3732 Sod2 superoxide dismutase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9067545|PMID:20516118|PMID:21742780|PMID:23964924|PMID:25448439 3732 Sod2 superoxide dismutase 2 gene DOID:9007692 Insulin Resistance ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22829583 3732 Sod2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11330 D RGD:1581222|PMID:11864929 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730872 D RGD:11035287|PMID:12668130 20160215 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3732 Sod2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:12907644 3732 Sod2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:730872 D RGD:1581258|PMID:11836586 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17965603|PMID:19385967|PMID:19756960|PMID:20562527 3732 Sod2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:1581248|PMID:15168344 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730872 D RGD:1581249|PMID:14611903 19990101 RGD DNA:SNP, haplotype: :1183C>T (human) 3732 Sod2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:730872 D RGD:11035286|PMID:1596865 20160215 RGD protein:increased expression:serum 3732 Sod2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730872 D RGD:11035289|PMID:16769586 20160215 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9279 hyperhomocysteinemia treatment IEP D RGD:11035307|PMID:24563435 20160216 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 3732 Sod2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:2312364|PMID:18423055 20090810 RGD DNA:polymorphism: :p.A16V (human) 3732 Sod2 superoxide dismutase 2 gene DOID:9452 fatty liver disease ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 3732 Sod2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15908783 3732 Sod2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:1581238|PMID:15908783 19990101 RGD 3732 Sod2 superoxide dismutase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730872 D RGD:2312364|PMID:18423055 20090810 RGD DNA:polymorphism: :p.A16V (human) 3732 Sod2 superoxide dismutase 2 gene DOID:9970 obesity ISO RGD:730872 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:16317704|PMID:23956348|PMID:30738174 3732 Sod2 superoxide dismutase 2 gene DOID:9993 hypoglycemia ISO RGD:730872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 3733 Sod3 superoxide dismutase 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 3733 Sod3 superoxide dismutase 3 gene DOID:10763 hypertension IDA D RGD:1580845|PMID:12600899 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:11331 D RGD:1581232|PMID:16864745 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16864745|PMID:17023265 3733 Sod3 superoxide dismutase 3 gene DOID:114 heart disease ISO RGD:736515 D RGD:1579965|PMID:16014615 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:114 heart disease ISO RGD:736515 D RGD:1580843|PMID:16840738 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:1389 polyneuropathy ISO RGD:736515 D RGD:1581254|PMID:12815947 20180131 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.R213G (human) 3733 Sod3 superoxide dismutase 3 gene DOID:2316 brain ischemia ISO RGD:11331 D RGD:1580852|PMID:10833313 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:2773 contact dermatitis ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17392825 3733 Sod3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16399992|PMID:16467073 3733 Sod3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736515 D RGD:1581270|PMID:16399992 19990101 RGD DNA:polymorphism: :p.R213G (human) 3733 Sod3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736515 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R213G (human) PMID:16399992|REF_RGD_ID:1581270 3733 Sod3 superoxide dismutase 3 gene DOID:3393 coronary artery disease ISO RGD:736515 D RGD:1580853|PMID:10811593 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736515 D RGD:11554173 20161213 CTD CTD Direct Evidence: therapeutic PMID:15298984 3733 Sod3 superoxide dismutase 3 gene DOID:552 pneumonia ISO RGD:736515 D RGD:1581268|PMID:16842247 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:5844 myocardial infarction ISO RGD:736515 D RGD:1580841|PMID:14592844 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:6000 congestive heart failure ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 3733 Sod3 superoxide dismutase 3 gene DOID:630 genetic disease ISO RGD:736515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3733 Sod3 superoxide dismutase 3 gene DOID:8618 oral cavity cancer ISO RGD:736515 D RGD:14700938|PMID:23057317 20190829 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:8805 intermediate coronary syndrome ISO RGD:736515 D RGD:1580841|PMID:14592844 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:8947 diabetic retinopathy ISO RGD:736515 D RGD:1581298|PMID:12663605 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:11331 D RGD:1581266|PMID:11880297 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9000918 Disease Progression ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 3733 Sod3 superoxide dismutase 3 gene DOID:9001472 Nasal Polyps ISO RGD:736515 D RGD:1581230|PMID:16540901 19990101 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) 3733 Sod3 superoxide dismutase 3 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP XCO:0000642 D RGD:14369425|PMID:21730301 20220127 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:736515 D RGD:1581095|PMID:11779401 20070621 RGD human gene in a rat model 3733 Sod3 superoxide dismutase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11331 D RGD:2312361|PMID:19470681 20090810 RGD protein:decreased expression:kidney 3733 Sod3 superoxide dismutase 3 gene DOID:9002669 Hypoxia ISO RGD:11331 D RGD:1581265|PMID:15375030 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:11331 D RGD:1581264|PMID:15778274 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9004484 Sepsis IEP D RGD:11035300|PMID:26266917 20160216 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9005749 Necrosis ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11529661 3733 Sod3 superoxide dismutase 3 gene DOID:9007102 Myocardial Ischemia IDA D RGD:1580843|PMID:16840738 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736515 D RGD:8554872 20180501 ClinVar ClinVar Annotator: match by term: Superoxide dismutase, elevated extracellular PMID:14662715|PMID:7662997|PMID:8034674 3733 Sod3 superoxide dismutase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736515 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11529661 3733 Sod3 superoxide dismutase 3 gene DOID:9007480 Hyperoxia ISO RGD:736515 D RGD:1581277|PMID:16100289 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9007692 Insulin Resistance ISO RGD:736515 D RGD:1625698|PMID:15171689 20070621 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 3733 Sod3 superoxide dismutase 3 gene DOID:9351 diabetes mellitus ISO RGD:736515 D RGD:1581299|PMID:12830380 19990101 RGD 3733 Sod3 superoxide dismutase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736515 D RGD:1581225|PMID:15990193 19990101 RGD 3734 Sord sorbitol dehydrogenase gene DOID:0050712 AGAT deficiency ISO RGD:735508 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 3734 Sord sorbitol dehydrogenase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735508 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32367058 3734 Sord sorbitol dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735508 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3734 Sord sorbitol dehydrogenase gene DOID:4661 multiple chemical sensitivity ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic environmental intolerance PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 3734 Sord sorbitol dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 3734 Sord sorbitol dehydrogenase gene DOID:630 genetic disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 3734 Sord sorbitol dehydrogenase gene DOID:83 cataract ISS RGD:11332 D RGD:13592920 20180518 MouseDO OMIM:601371 3734 Sord sorbitol dehydrogenase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 3734 Sord sorbitol dehydrogenase gene DOID:870 neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 3734 Sord sorbitol dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1601360|PMID:15064821 20070417 RGD protein:increased expression:liver 3734 Sord sorbitol dehydrogenase gene DOID:9006739 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy ISO RGD:735508 D RGD:7240710 20200916 OMIM 3734 Sord sorbitol dehydrogenase gene DOID:9006739 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sorbitol dehydrogenase deficiency with peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 3734 Sord sorbitol dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12763371 3734 Sord sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1601364|PMID:14525943 20070417 RGD protein:increased activity:heart 3734 Sord sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 3734 Sord sorbitol dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735508 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3734 Sord sorbitol dehydrogenase gene DOID:9743 diabetic neuropathy resistance IDA D RGD:1601362|PMID:15755558 20070417 RGD 3735 Sox10 SRY-box transcription factor 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3735 Sox10 SRY-box transcription factor 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:731681 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3735 Sox10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:7240710 20130221 OMIM 3735 Sox10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 3735 Sox10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome severity ISO RGD:731681 D RGD:12802339|PMID:25959061 20170405 RGD 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:731681 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:731681 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:7240710 20130221 OMIM 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34599368|PMID:9462749 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:12802337|PMID:21965087 20170405 RGD DNA:deletion:cds:c.743_744delAG (p.E248fsX30)(human) 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:12832750|PMID:25817900 20170410 RGD DNA:missense mutation:cds:c.621C>A (p.Y207X)(human) 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:7240710 20130221 OMIM 3735 Sox10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 3735 Sox10 SRY-box transcription factor 10 gene DOID:10487 Hirschsprung's disease ISO RGD:731681 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 3735 Sox10 SRY-box transcription factor 10 gene DOID:10487 Hirschsprung's disease ISO RGD:735897 D RGD:12802335|PMID:9560246 20170405 RGD DNA:frameshift:cds: 3735 Sox10 SRY-box transcription factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 3735 Sox10 SRY-box transcription factor 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3735 Sox10 SRY-box transcription factor 10 gene DOID:3614 Kallmann syndrome ISO RGD:731681 D RGD:12832748|PMID:23643381 20170410 RGD DNA:mutations:cds: 3735 Sox10 SRY-box transcription factor 10 gene DOID:3614 Kallmann syndrome ISO RGD:731681 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 3735 Sox10 SRY-box transcription factor 10 gene DOID:3614 Kallmann syndrome ISS RGD:735897 D RGD:13592920 20180518 MouseDO 3735 Sox10 SRY-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3735 Sox10 SRY-box transcription factor 10 gene DOID:9004042 Olfaction Disorders ISO RGD:731681 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 3735 Sox10 SRY-box transcription factor 10 gene DOID:9004147 Anosmia ISO RGD:731681 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 3735 Sox10 SRY-box transcription factor 10 gene DOID:9004538 Hearing Loss ISO RGD:731681 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 3735 Sox10 SRY-box transcription factor 10 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:731681 D RGD:12832744|PMID:9462749 20170410 RGD DNA:missense mutations,insertion,deletion:cds: 3735 Sox10 SRY-box transcription factor 10 gene DOID:9008681 Deafness ISO RGD:731681 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 3735 Sox10 SRY-box transcription factor 10 gene DOID:9258 Waardenburg's syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 3738 Sp1 Sp1 transcription factor gene DOID:4195 hyperglycemia ISO RGD:732035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 3738 Sp1 Sp1 transcription factor gene DOID:630 genetic disease ISO RGD:732035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3738 Sp1 Sp1 transcription factor gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:732035 D RGD:9854624|PMID:18258854 20150407 RGD protein:increased phosphorylation:smooth muscle cell: 3738 Sp1 Sp1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:732035 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 3738 Sp1 Sp1 transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:732035 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:35072892 3738 Sp1 Sp1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732035 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3738 Sp1 Sp1 transcription factor gene DOID:9004464 Skin Neoplasms ISO RGD:732035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 3738 Sp1 Sp1 transcription factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732035 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:26317792|PMID:35072892 3738 Sp1 Sp1 transcription factor gene DOID:9006182 Carotid Artery Injuries IEP D RGD:9854624|PMID:18258854 20150407 RGD protein:increased phosphorylation:smooth muscle cell: 3738 Sp1 Sp1 transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 3738 Sp1 Sp1 transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:732035 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 3741 Sp4 Sp4 transcription factor gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:731794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 3741 Sp4 Sp4 transcription factor gene DOID:12930 dilated cardiomyopathy ISO RGD:731794 D RGD:1581308|PMID:15972724 19990101 RGD 3741 Sp4 Sp4 transcription factor gene DOID:1682 congenital heart disease ISO RGD:731794 D RGD:1581309|PMID:15907824 19990101 RGD 3741 Sp4 Sp4 transcription factor gene DOID:3312 bipolar disorder ISO RGD:731794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 3741 Sp4 Sp4 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731794 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3741 Sp4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:731794 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 3741 Sp4 Sp4 transcription factor gene DOID:630 genetic disease ISO RGD:731794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3741 Sp4 Sp4 transcription factor gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731794 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 3741 Sp4 Sp4 transcription factor gene DOID:9007925 Sudden Cardiac Death ISO RGD:11335 D RGD:1580019|PMID:11007485 19990101 RGD 3741 Sp4 Sp4 transcription factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:731794 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 3742 Sparc secreted protein acidic and cysteine rich gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3742 Sparc secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:7240710 20170329 OMIM 3742 Sparc secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 PMID:25741868|PMID:26027498|PMID:28492532 3742 Sparc secreted protein acidic and cysteine rich gene DOID:0111535 progressive osseous heteroplasia ISO RGD:731035 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 3742 Sparc secreted protein acidic and cysteine rich gene DOID:10976 membranous glomerulonephritis IEP D RGD:2300069|PMID:8943481 20080902 RGD protein:increased expression:kidney 3742 Sparc secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer ISO RGD:731035 D RGD:2300021|PMID:17149610 20080829 RGD 3742 Sparc secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731035 D RGD:2300024|PMID:11696817 20080829 RGD 3742 Sparc secreted protein acidic and cysteine rich gene DOID:11713 diabetic angiopathy IEP D RGD:2300063|PMID:10625572 20080902 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel 3742 Sparc secreted protein acidic and cysteine rich gene DOID:12347 osteogenesis imperfecta ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1793673 3742 Sparc secreted protein acidic and cysteine rich gene DOID:12347 osteogenesis imperfecta ISO RGD:731035 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 3742 Sparc secreted protein acidic and cysteine rich gene DOID:1588 thrombocytopenia ISO RGD:731035 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 3742 Sparc secreted protein acidic and cysteine rich gene DOID:182 calcinosis ISO RGD:731035 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 3742 Sparc secreted protein acidic and cysteine rich gene DOID:2152 ovary epithelial cancer ISO RGD:731035 D RGD:2300027|PMID:10502421 20080829 RGD mRNA, protein:increased expression:stromal cell 3742 Sparc secreted protein acidic and cysteine rich gene DOID:2237 hepatitis ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 3742 Sparc secreted protein acidic and cysteine rich gene DOID:2871 endometrial carcinoma ISO RGD:731035 D RGD:2300020|PMID:17487382 20080829 RGD DNA, mRNA, protein:hypermethylation, altered expression 3742 Sparc secreted protein acidic and cysteine rich gene DOID:2893 cervix carcinoma ISO RGD:731035 D RGD:2300022|PMID:16434596 20080829 RGD DNA:hypermethylation 3742 Sparc secreted protein acidic and cysteine rich gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:2300070|PMID:8644857 20080902 RGD mRNA:increased expression:glomerulus 3742 Sparc secreted protein acidic and cysteine rich gene DOID:3770 pulmonary fibrosis ISO RGD:11336 D RGD:30309204|PMID:31838832 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: 3742 Sparc secreted protein acidic and cysteine rich gene DOID:3948 adrenocortical carcinoma ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22156929 3742 Sparc secreted protein acidic and cysteine rich gene DOID:4450 renal cell carcinoma ISO RGD:731035 D RGD:2300025|PMID:11679940 20080829 RGD mRNA, protein:increased expression:kidney 3742 Sparc secreted protein acidic and cysteine rich gene DOID:4676 uremia ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 3742 Sparc secreted protein acidic and cysteine rich gene DOID:5082 liver cirrhosis ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 3742 Sparc secreted protein acidic and cysteine rich gene DOID:5517 stomach carcinoma IEP D RGD:2300058|PMID:12359048 20080902 RGD mRNA:increased expression:stomach mucosa 3742 Sparc secreted protein acidic and cysteine rich gene DOID:557 kidney disease ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12660331 3742 Sparc secreted protein acidic and cysteine rich gene DOID:5844 myocardial infarction IEP D RGD:2300056|PMID:12826287 20080902 RGD mRNA:increased expression:heart 3742 Sparc secreted protein acidic and cysteine rich gene DOID:630 genetic disease ISO RGD:731035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3742 Sparc secreted protein acidic and cysteine rich gene DOID:90 degenerative disc disease ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9000039 Spinal Cord Injuries ISO RGD:11336 D RGD:2300052|PMID:17611274 20080902 RGD 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9000998 Brain Injuries IEP D RGD:2300066|PMID:9704602 20080902 RGD mRNA:increased expression:brain, blood vessel 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2300071|PMID:8786698 20080902 RGD mRNA:increased expression:liver, fat cell 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:2300030|PMID:18615449 20080829 RGD 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18615449|PMID:25380136 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9001600 Wounds and Injuries IEP D RGD:2300076|PMID:8245406 20080903 RGD mRNA, protein:increased expression:skin, fibroblast 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2300072|PMID:8569083 20080902 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9002170 Experimental Neoplasms ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20164124 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9002211 Hyperalgesia ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:11336 D RGD:2300019|PMID:17951402 20080829 RGD 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19177197 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9002928 Colonic Neoplasms ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17397030 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9003669 Low Back Pain ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9004657 Weight Gain ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9005372 Inflammation ISO RGD:11336 D RGD:2300051|PMID:17717147 20080902 RGD associated with Hypertension 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9005749 Necrosis ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9005930 Endotoxemia IEP D RGD:2300026|PMID:10703670 20080829 RGD mRNA, protein:decreased expression:kidney 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9007102 Myocardial Ischemia ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9007702 Carcinogenesis ISO RGD:731035 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26783756 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9008443 Colorectal Neoplasms ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18458674 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9119 acute myeloid leukemia ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9538 multiple myeloma ISO RGD:731035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 3742 Sparc secreted protein acidic and cysteine rich gene DOID:9970 obesity ISO RGD:11336 D RGD:2300062|PMID:11294850 20080902 RGD mRNA:increased expression:adipose tissue 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:0081063 DICER1 syndrome ISO RGD:1343168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:11394 adult respiratory distress syndrome IMP D RGD:5147448|PMID:8574716 20110804 RGD associated with pancreatitis 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:11394 adult respiratory distress syndrome ISO RGD:1343168 D RGD:5147458|PMID:2432615 20110805 RGD protein:increased expression:serum 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1343168 D RGD:9068941 20210730 RGD mRNA,protein:increased expression:frontal cortex: PMID:29142239|REF_RGD_ID:36947868 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:13141 uveitis IEP D RGD:5147410|PMID:11581179 20110803 RGD mRNA:increased expression:iris,retina 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:1485 cystic fibrosis severity ISO RGD:1343168 D RGD:5147439|PMID:11120905 20110804 RGD 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:2945 severe acute respiratory syndrome ISO RGD:1343168 D RGD:5147434|PMID:16649161 20110804 RGD protein:increased expression:plasma 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343168 D RGD:5147433|PMID:17261175 20110804 RGD protein:increased expression:plasma 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343168 D RGD:5147449|PMID:8244391 20110804 RGD DNA:missense mutations:Cds:p.L55P, P229A 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343168 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 PMID:1351206|PMID:8102759|PMID:8244391 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1343168 D RGD:5147441|PMID:10849024 20110804 RGD DNA:polymorphism:exon:p.A-15T (human) 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:3910 lung adenocarcinoma ISO RGD:1343168 D RGD:5147446|PMID:8620411 20110804 RGD protein:increased expression:cytoplasm 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:630 genetic disease ISO RGD:1343168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:784 chronic kidney disease ISO RGD:1343168 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35635602 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:865 vasculitis ISO RGD:1343168 D RGD:9068941 20220825 RGD PMID:12685871|REF_RGD_ID:1580110 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343168 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:18383875 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1343168 D RGD:9068941 20210730 RGD PMID:12126519|REF_RGD_ID:1580109 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9005420 Peripheral Arterial Occlusive Disease 1 ISO RGD:1343168 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1343168 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN ISEHARA 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:1343168 D RGD:5147435|PMID:16273852 20110804 RGD protein:decreased expression:serum 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343168 D RGD:5147423|PMID:7562495 20110804 RGD 3747 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N gene DOID:9455 lipid storage disease ISO RGD:1343168 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 3748 Serpine2 serpin family E member 2 gene DOID:10652 Alzheimer's disease ISO RGD:70076 D RGD:2317937|PMID:2813392 20100430 RGD 3748 Serpine2 serpin family E member 2 gene DOID:10763 hypertension IEP D RGD:729767|PMID:12524238 20100430 RGD mRNA, protein:increased expression:blood vessel 3748 Serpine2 serpin family E member 2 gene DOID:4724 brain edema IEP D RGD:2317927|PMID:18442833 20100430 RGD associated with Cerebral Hemorrhage 3748 Serpine2 serpin family E member 2 gene DOID:630 genetic disease ISO RGD:70076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3748 Serpine2 serpin family E member 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2317936|PMID:8261109 20100430 RGD 3748 Serpine2 serpin family E member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70076 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:10283 prostate cancer severity ISO RGD:1350719 D RGD:2300382|PMID:17306443 20080916 RGD protein:increased expression:prostate gland, serum 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1350719 D RGD:2300384|PMID:16327984 20080916 RGD mRNA, protein:decreased expression:urinary bladder 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:1793 pancreatic cancer ISO RGD:1350719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19896093 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350719 D RGD:2300386|PMID:15269150 20080916 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1350719 D RGD:2300385|PMID:15963628 20080916 RGD protein:increased expression:urine 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:289 endometriosis disease_progression ISO RGD:1350719 D RGD:2300390|PMID:8988701 20080916 RGD protein:increased expression:serum 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1350719 D RGD:2300391|PMID:2258083 20080916 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350719 D RGD:2300388|PMID:10508484 20080916 RGD protein:decreased expression:kidney 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1350719 D RGD:2300387|PMID:11176522 20080916 RGD protein:increased expression:serum 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:4989 pancreatitis ISO RGD:1350719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143602 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:4989 pancreatitis ISO RGD:1350719 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:7240710 20230517 OMIM 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tropical calcific pancreatitis PMID:10691414|PMID:10835640|PMID:11265669|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350719 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9005372 Inflammation IEP D RGD:10043093|PMID:7526044 20150513 RGD protein:increased expression,increased secretion:liver,serum 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis IEP D RGD:10044261|PMID:12123090 20150605 RGD protein:increased secretion:pancreatic juice: 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment IDA D RGD:10043091|PMID:19904222 20150513 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment IDA D RGD:10044253|PMID:22173919 20150605 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1350719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206817 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1350719 D RGD:1599102|PMID:10835640 20070116 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:15980664|PMID:16849362|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:18978175|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27535533|PMID:27578509|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:29521951|PMID:31401021|PMID:34828289 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment IDA D RGD:10043090|PMID:15765407 20150605 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350719 D RGD:2300389|PMID:9891532 20080916 RGD 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:7240710 20230517 OMIM 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10691414|PMID:10835640|PMID:10982753|PMID:11265669|PMID:11355022|PMID:11368029|PMID:11578065|PMID:11950815|PMID:120111|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12651880|PMID:12658397|PMID:12743777|PMID:12825076|PMID:12853682|PMID:12939655|PMID:14526128|PMID:14722925|PMID:15800694|PMID:15980664|PMID:1613792|PMID:16823394|PMID:16849362|PMID:16885867|PMID:17003641|PMID:17048046|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18182741|PMID:18206809|PMID:18206817|PMID:18286680|PMID:18414673|PMID:18570327|PMID:18580441|PMID:18617776|PMID:1870127|PMID:18978175|PMID:19299380|PMID:19372376|PMID:19453252|PMID:19565042|PMID:19888199|PMID:20510827|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22228370|PMID:22343980|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22577471|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24052272|PMID:24522117|PMID:24795752|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25383785|PMID:25741868|PMID:25792561|PMID:25927356|PMID:26228362|PMID:26348468|PMID:26632706|PMID:26719302|PMID:27171515|PMID:27535533|PMID:27578509|PMID:28320769|PMID:28440306|PMID:28472998|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28546060|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:29521951|PMID:30420730|PMID:31391146|PMID:31401021|PMID:31628023|PMID:33097431|PMID:33515547|PMID:33534223|PMID:34828289|PMID:3501289|PMID:35974416|PMID:9536098 3749 Spink1 serine peptidase inhibitor, Kazal type 1 gene DOID:9351 diabetes mellitus ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:10835640|PMID:15980664|PMID:16849362|PMID:18978175|PMID:23017645|PMID:23741238|PMID:24909264|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27578509|PMID:28492532|PMID:29521951|PMID:31401021 3750 Spn sialophorin gene DOID:0060041 autism spectrum disorder ISO RGD:737577 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 3750 Spn sialophorin gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:737577 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 3750 Spn sialophorin gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:737577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 3750 Spn sialophorin gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:737577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 3750 Spn sialophorin gene DOID:12849 autistic disorder ISO RGD:737577 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3750 Spn sialophorin gene DOID:182 calcinosis ISO RGD:737577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 3750 Spn sialophorin gene DOID:1882 atrial heart septal defect ISO RGD:737577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 3750 Spn sialophorin gene DOID:4079 heart valve disease ISO RGD:737577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 3750 Spn sialophorin gene DOID:5419 schizophrenia ISO RGD:737577 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3750 Spn sialophorin gene DOID:630 genetic disease ISO RGD:737577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3750 Spn sialophorin gene DOID:9002457 Experimental Arthritis IMP D RGD:2303983|PMID:7927732 20090303 RGD associated with Staphylococcal Infections 3750 Spn sialophorin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737577 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3750 Spn sialophorin gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:737577 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:0050753 cerebellar ataxia ISO RGD:731487 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:7240710 20180111 OMIM 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 PMID:16429157|PMID:20368622|PMID:20603325|PMID:22843192|PMID:22914369|PMID:25057192|PMID:25741868|PMID:25741869|PMID:25981959|PMID:26467025|PMID:26633542|PMID:28492532|PMID:29389947|PMID:29590070|PMID:31066025|PMID:31721007|PMID:33318253|PMID:33801522 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:731487 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:26467025|PMID:28492532 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:7240710 20140911 OMIM 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 PMID:17940722|PMID:23236289|PMID:23838597|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29196973|PMID:29590070 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:1059 intellectual disability ISO RGD:731487 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:630 genetic disease ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17121810|PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:731487 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 3751 Sptbn2 spectrin, beta, non-erythrocytic 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 3752 Spp1 secreted phosphoprotein 1 gene DOID:0050851 glomerulosclerosis IEP D RGD:6903837|PMID:12675855 20121003 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:0080685 aortic dissection ISO RGD:736066 D RGD:155260287|PMID:28167124 20220926 RGD protein:increased expression:aorta (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:0080685 aortic dissection ISO RGD:736066 D RGD:155260309|PMID:30787994 20220929 RGD protein:increased expression:aorta (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736066 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 3752 Spp1 secreted phosphoprotein 1 gene DOID:10286 prostate carcinoma ISO RGD:736066 D RGD:1581362|PMID:16331611 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:10320 asbestosis ISO RGD:736066 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:21514415 3752 Spp1 secreted phosphoprotein 1 gene DOID:1074 kidney failure ISO RGD:736066 D RGD:6903271|PMID:21034455 20120928 RGD In type 2 diabetic patients 3752 Spp1 secreted phosphoprotein 1 gene DOID:11054 urinary bladder cancer ISO RGD:736066 D RGD:6903265|PMID:21483670 20120928 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:114 heart disease ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 3752 Spp1 secreted phosphoprotein 1 gene DOID:11832 visual epilepsy IDA D RGD:1581327|PMID:12132583 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:1205 allergic disease ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3752 Spp1 secreted phosphoprotein 1 gene DOID:12365 malaria ISO RGD:11340 D RGD:1581333|PMID:16552072 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:13001 carotid stenosis ISO RGD:736066 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 3752 Spp1 secreted phosphoprotein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9294829 3752 Spp1 secreted phosphoprotein 1 gene DOID:13608 biliary atresia ISO RGD:736066 D RGD:1581370|PMID:15845635 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736066 D RGD:1581381|PMID:15776015 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:1591 renovascular hypertension IDA D RGD:1581326|PMID:12620700 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:1793 pancreatic cancer ISO RGD:736066 D RGD:1581363|PMID:15970685 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:182 calcinosis IEP D RGD:6903869|PMID:18390899 20121004 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 3752 Spp1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 3752 Spp1 secreted phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:736066 D RGD:1581337|PMID:15757900 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:2237 hepatitis ISO RGD:736066 D RGD:1581383|PMID:15712659 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:1581329|PMID:11721059 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:1581472|PMID:15885319 19990101 RGD DNA, protein:SNPs, haplotypes, increased expression:multiple, serum 3752 Spp1 secreted phosphoprotein 1 gene DOID:26 pancreas disease ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20495387 3752 Spp1 secreted phosphoprotein 1 gene DOID:2921 glomerulonephritis disease_progression IMP D RGD:6903272|PMID:20720406 20120928 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:299 adenocarcinoma ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20495387|PMID:21552421 3752 Spp1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:11340 D RGD:6903264|PMID:22863853 20120928 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11274264|PMID:20623750 3752 Spp1 secreted phosphoprotein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14555839 3752 Spp1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma IDA D RGD:1581321|PMID:16651633 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 3752 Spp1 secreted phosphoprotein 1 gene DOID:3393 coronary artery disease ISO RGD:736066 D RGD:6903271|PMID:21034455 20120928 RGD In type 2 diabetic patients 3752 Spp1 secreted phosphoprotein 1 gene DOID:3627 aortic aneurysm ISO RGD:736066 D RGD:155260284|PMID:25465469 20220926 RGD protein:increased expression:aorta (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:11340 D RGD:30309204|PMID:31838832 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: 3752 Spp1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25216247 3752 Spp1 secreted phosphoprotein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736066 D RGD:1581361|PMID:16533775 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:399 tuberculosis ISO RGD:736066 D RGD:1581371|PMID:15863395 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:4079 heart valve disease ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 3752 Spp1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:11340 D RGD:1581358|PMID:12114325 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:736066 D RGD:1581366|PMID:16373617 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:4306 radiculopathy IDA D RGD:1581324|PMID:14513263 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:4676 uremia ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 3752 Spp1 secreted phosphoprotein 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11340 D RGD:6903276|PMID:20504883 20120928 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:5082 liver cirrhosis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16221502 3752 Spp1 secreted phosphoprotein 1 gene DOID:5434 scrapie ISO RGD:11340 D RGD:1581331|PMID:16412998 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:552 pneumonia ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 3752 Spp1 secreted phosphoprotein 1 gene DOID:557 kidney disease ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27026710 3752 Spp1 secreted phosphoprotein 1 gene DOID:576 proteinuria ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11972865 3752 Spp1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:11340 D RGD:1581325|PMID:14500723 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:736066 D RGD:1581386|PMID:12939547 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3752 Spp1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis IDA D RGD:1581329|PMID:11721059 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736066 D RGD:1581375|PMID:16047475 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736066 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736066 D RGD:1581382|PMID:15761492 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:820 myocarditis IDA D RGD:1581118|PMID:16679731 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease IEP D RGD:5131995|PMID:20926632 20121003 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:17582161|PMID:22863349|PMID:25741868|PMID:28492532 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:11340 D RGD:6483848|PMID:15592854 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:11340 D RGD:1581341|PMID:15735673 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000315 Pleural Neoplasms ISO RGD:736066 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:16221779 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000483 Angina Pectoris ISO RGD:736066 D RGD:1581390|PMID:16421174 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000784 Fibrosis ISO RGD:11340 D RGD:1581343|PMID:15123578 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11340 D RGD:1581330|PMID:16474180 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 3752 Spp1 secreted phosphoprotein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 3752 Spp1 secreted phosphoprotein 1 gene DOID:9001542 Albuminuria IEP D RGD:6903862|PMID:18443355 20121004 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis IDA D RGD:1581332|PMID:16221502 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 3752 Spp1 secreted phosphoprotein 1 gene DOID:9001600 Wounds and Injuries ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9525990 3752 Spp1 secreted phosphoprotein 1 gene DOID:9001665 Aneurysm ISO RGD:736066 D RGD:1581391|PMID:11567232 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002165 Diabetic Nephropathies IDA D RGD:1581328|PMID:12032186 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21852811 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11340 D RGD:1581338|PMID:15867270 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi IEP D RGD:6903839|PMID:21378157 20121003 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:11340 D RGD:1581334|PMID:16105024 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8325891|PMID:10890885 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:1581372|PMID:15954903 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002438 Foreign-Body Reaction ISO RGD:11340 D RGD:1581336|PMID:15949549 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20440599 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002704 Leukoencephalopathies ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 3752 Spp1 secreted phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736066 D RGD:1581364|PMID:16428483 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:11340 D RGD:1581359|PMID:11920639 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi ISO RGD:736066 D RGD:1581368|PMID:16145474 19990101 RGD DNA:polymorphism: :p.R9402H (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi no_association ISO RGD:736066 D RGD:1581368|PMID:16145474 20180326 RGD DNA:polymorphism: :p.N9171S (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:9003566 Mesothelioma ISO RGD:736066 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:18550471 3752 Spp1 secreted phosphoprotein 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:736066 D RGD:1581365|PMID:16299231 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9003936 Cardiomegaly ISO RGD:11340 D RGD:1581339|PMID:15534078 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11340 D RGD:6903275|PMID:20548025 20120928 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736066 D RGD:1581374|PMID:15868370 19990101 RGD DNA:SNPs:promoter:-443C>T, -1748G>A (human) 3752 Spp1 secreted phosphoprotein 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736066 D RGD:1581360|PMID:16633066 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:736066 D RGD:1581369|PMID:15998773 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421|PMID:22481206 3752 Spp1 secreted phosphoprotein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15318939 3752 Spp1 secreted phosphoprotein 1 gene DOID:9005372 Inflammation ISO RGD:11340 D RGD:1581334|PMID:16105024 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1581322|PMID:16528250 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9006062 Nervous System Trauma IDA D RGD:1581125|PMID:15625076 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9006081 Osteolysis ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 3752 Spp1 secreted phosphoprotein 1 gene DOID:9006647 Experimental Autoimmune Neuritis IDA D RGD:1581323|PMID:15531104 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 3752 Spp1 secreted phosphoprotein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16980342 3752 Spp1 secreted phosphoprotein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 3752 Spp1 secreted phosphoprotein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 3752 Spp1 secreted phosphoprotein 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11340 D RGD:1581342|PMID:15165989 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:736066 D RGD:1581360|PMID:16633066 19990101 RGD 3752 Spp1 secreted phosphoprotein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18949741|PMID:22531848 3752 Spp1 secreted phosphoprotein 1 gene DOID:9538 multiple myeloma ISO RGD:736066 D RGD:1581367|PMID:16208410 19990101 RGD 3753 Spr sepiapterin reductase gene DOID:0050473 Alstrom syndrome ISO RGD:1346391 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 3753 Spr sepiapterin reductase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 3753 Spr sepiapterin reductase gene DOID:0080600 COVID-19 ISO RGD:1346391 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3753 Spr sepiapterin reductase gene DOID:0090043 dystonia 5 ISO RGD:1346391 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia 3753 Spr sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 3753 Spr sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:7240710 20130221 OMIM 3753 Spr sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency PMID:10384371|PMID:11443547|PMID:15241655|PMID:16049044|PMID:16650784|PMID:16752391|PMID:16917893|PMID:17159114|PMID:18414213|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:31041399|PMID:33098801|PMID:33822819|PMID:9700606 3753 Spr sepiapterin reductase gene DOID:1059 intellectual disability ISO RGD:1346391 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 3753 Spr sepiapterin reductase gene DOID:14330 Parkinson's disease ISS RGD:736908 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 3753 Spr sepiapterin reductase gene DOID:543 dystonia ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:11443547|PMID:16697227|PMID:16752391|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22522443|PMID:23430877|PMID:23542699|PMID:23640889|PMID:24212389|PMID:24588500|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:30682498|PMID:32581362|PMID:33098801|PMID:33822819|PMID:9536098 3753 Spr sepiapterin reductase gene DOID:543 dystonia susceptibility ISO RGD:1346391 D RGD:1600054|PMID:11443547 20070226 RGD DNA:deletion, transitions 3753 Spr sepiapterin reductase gene DOID:630 genetic disease ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22522443|PMID:25741868|PMID:28492532 3753 Spr sepiapterin reductase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 3755 Sqle squalene epoxidase gene DOID:10211 cholelithiasis ISO RGD:736676 D RGD:1581398|PMID:14684588 19990101 RGD 3755 Sqle squalene epoxidase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:736675 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 3755 Sqle squalene epoxidase gene DOID:630 genetic disease ISO RGD:736675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3755 Sqle squalene epoxidase gene DOID:9000808 Hypercholesterolemia ISO RGD:736676 D RGD:13782271|PMID:25168180 20180831 RGD mRNA:increased expression:liver 3755 Sqle squalene epoxidase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 3755 Sqle squalene epoxidase gene DOID:9970 obesity ISO RGD:736676 D RGD:1581399|PMID:15556298 19990101 RGD 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:0080600 COVID-19 ISO RGD:736446 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer IEP D RGD:2302523|PMID:16818707 20110119 RGD mRNA:increased expression:prostate gland (rat) 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer IMP D RGD:2302523|PMID:16818707 20081222 RGD 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:736446 D RGD:2302523|PMID:16818707 20081222 RGD 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736446 D RGD:2302521|PMID:17720776 20081222 RGD protein:increased expression:prostate gland 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:11132 prostatic hypertrophy severity ISO RGD:736446 D RGD:2302559|PMID:15136785 20081230 RGD DNA:SNPs:cds 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:736446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543|PMID:22381227 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:12700 hyperprolactinemia IEP D RGD:4891877|PMID:18379994 20110119 RGD mRNA:increased expression:prostate (rat) 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:1459 hypothyroidism IEP D RGD:4891505|PMID:20303481 20110118 RGD mRNA:decreased expression:epididymus (rat) 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:289 endometriosis ISO RGD:736446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21232532|PMID:23183084 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:3459 breast carcinoma ISO RGD:736446 D RGD:2302558|PMID:15212687 20081230 RGD mRNA:increased expression:breast 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:630 genetic disease ISO RGD:736446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11341 D RGD:2302522|PMID:17707058 20081222 RGD 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500220|PMID:20564326 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736446 D RGD:4891966|PMID:12374776 20110125 RGD mRNA:increased expression:heart left ventricle (human) 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4891894|PMID:17884440 20110119 RGD mRNA:increased expression:adrenal gland (rat) 3757 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9970 obesity IEP D RGD:4891511|PMID:20098742 20110118 RGD mRNA:increased expression:liver (rat) 3759 Sry sex determining region Y gene DOID:0111761 46,XX sex reversal 1 ISO RGD:737205 D RGD:7240710 20140723 OMIM 3759 Sry sex determining region Y gene DOID:0111761 46,XX sex reversal 1 ISO RGD:737205 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 1 PMID:25741868 3759 Sry sex determining region Y gene DOID:0111778 46,XY sex reversal 1 ISO RGD:737205 D RGD:7240710 20140723 OMIM 3759 Sry sex determining region Y gene DOID:0111778 46,XY sex reversal 1 ISO RGD:737205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 1 PMID:10670762|PMID:10843173|PMID:10852465|PMID:12107262|PMID:12409269|PMID:12793612|PMID:1339396|PMID:1415266|PMID:1438307|PMID:1483689|PMID:1570829|PMID:1619028|PMID:1639410|PMID:16510537|PMID:16675314|PMID:1734522|PMID:1956279|PMID:20528776|PMID:2247149|PMID:2247151|PMID:2401216|PMID:25741868|PMID:28492532|PMID:28787711|PMID:7718558|PMID:7985018|PMID:7987333|PMID:8019555|PMID:8105086|PMID:8257986|PMID:8353496|PMID:9150734|PMID:9443877|PMID:9450909|PMID:9521592 3759 Sry sex determining region Y gene DOID:12849 autistic disorder ISO RGD:737205 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3759 Sry sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27576690 3759 Sry sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:1598780|PMID:8257986 20061219 RGD 3759 Sry sex determining region Y gene DOID:14448 46,XY sex reversal ISO RGD:737205 D RGD:1599179|PMID:2247151 20070118 RGD 3759 Sry sex determining region Y gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737205 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development PMID:25741868|PMID:29378242|PMID:8353496 3759 Sry sex determining region Y gene DOID:9006530 46,Xy True Hermaphroditism, Sry-Related ISO RGD:737205 D RGD:8554872 20170606 ClinVar ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related PMID:12793612|PMID:1483689|PMID:1570829|PMID:1734522|PMID:1956279|PMID:2247149|PMID:8257986|PMID:9450909 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:0080690 RASopathy ISO RGD:736464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:37 skin disease ISO RGD:736464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:736464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:7240710 20200930 OMIM 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities PMID:25741868|PMID:31298765|PMID:31550237|PMID:31550240 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:736464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3760 Ssbp1 single stranded DNA binding protein 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:736464 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 3761 Sst somatostatin gene DOID:10763 hypertension IEP D RGD:2303191|PMID:17928643 20090205 RGD protein:altered expression:stomach 3761 Sst somatostatin gene DOID:10808 gastric ulcer IEP D RGD:2303186|PMID:17990461 20090205 RGD 3761 Sst somatostatin gene DOID:112 esophageal varix ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1385068 3761 Sst somatostatin gene DOID:14566 disease of cellular proliferation ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21692635 3761 Sst somatostatin gene DOID:1793 pancreatic cancer ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2868874 3761 Sst somatostatin gene DOID:289 endometriosis ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 3761 Sst somatostatin gene DOID:326 ischemia ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18624922 3761 Sst somatostatin gene DOID:3324 mood disorder ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25600109 3761 Sst somatostatin gene DOID:4500 hypokalemia ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2563217 3761 Sst somatostatin gene DOID:4989 pancreatitis ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7911442 3761 Sst somatostatin gene DOID:5419 schizophrenia ISO RGD:734231 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3761 Sst somatostatin gene DOID:5574 vipoma ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2868874 3761 Sst somatostatin gene DOID:8725 vascular dementia IEP D RGD:2303174|PMID:18925713 20090205 RGD protein:decreased expression:brain 3761 Sst somatostatin gene DOID:9000117 Esophageal Neoplasms ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17999418 3761 Sst somatostatin gene DOID:9002906 Multiple Organ Failure ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15834315 3761 Sst somatostatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3761 Sst somatostatin gene DOID:9206 Barrett's esophagus ISO RGD:734231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17999418 3762 Sstr1 somatostatin receptor 1 gene DOID:169 neuroendocrine tumor ISO RGD:737191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 3762 Sstr1 somatostatin receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:737191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 3762 Sstr1 somatostatin receptor 1 gene DOID:1824 status epilepticus ISO RGD:737191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 3762 Sstr1 somatostatin receptor 1 gene DOID:630 genetic disease ISO RGD:737191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3762 Sstr1 somatostatin receptor 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 3762 Sstr1 somatostatin receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325008|PMID:7956902 20100518 RGD 3763 Sstr2 somatostatin receptor 2 gene DOID:0050773 paraganglioma ISO RGD:1346941 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:29163802 3763 Sstr2 somatostatin receptor 2 gene DOID:169 neuroendocrine tumor ISO RGD:1346941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 3763 Sstr2 somatostatin receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:1346941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15259086|PMID:17625444|PMID:19917848 3763 Sstr2 somatostatin receptor 2 gene DOID:1824 status epilepticus ISO RGD:1346941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 3763 Sstr2 somatostatin receptor 2 gene DOID:630 genetic disease ISO RGD:1346941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3763 Sstr2 somatostatin receptor 2 gene DOID:9000998 Brain Injuries IEP D RGD:2325002|PMID:11879809 20100518 RGD 3763 Sstr2 somatostatin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325008|PMID:7956902 20100518 RGD 3764 Sstr4 somatostatin receptor 4 gene DOID:1824 status epilepticus IEP D RGD:2324996|PMID:18951627 20100518 RGD 3764 Sstr4 somatostatin receptor 4 gene DOID:1824 status epilepticus ISO RGD:735550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 3764 Sstr4 somatostatin receptor 4 gene DOID:630 genetic disease ISO RGD:735550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3764 Sstr4 somatostatin receptor 4 gene DOID:9000998 Brain Injuries IEP D RGD:2325002|PMID:11879809 20100518 RGD 3764 Sstr4 somatostatin receptor 4 gene DOID:9007821 Glucagonoma ISO RGD:735550 D RGD:2324994|PMID:8132773 20100518 RGD 3765 Sstr5 somatostatin receptor 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 3765 Sstr5 somatostatin receptor 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 3765 Sstr5 somatostatin receptor 5 gene DOID:1824 status epilepticus ISO RGD:736501 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 3765 Sstr5 somatostatin receptor 5 gene DOID:1826 epilepsy ISO RGD:736501 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 3765 Sstr5 somatostatin receptor 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736501 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3765 Sstr5 somatostatin receptor 5 gene DOID:3312 bipolar disorder ISO RGD:736501 D RGD:1358589|PMID:12192619 19990101 RGD DNA:SNP, missense mutations, haplotype: :573G>A, p.L48M, p.P335L (human) 3765 Sstr5 somatostatin receptor 5 gene DOID:630 genetic disease ISO RGD:736501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3765 Sstr5 somatostatin receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325008|PMID:7956902 20100518 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:0060072 benign neoplasm ISO RGD:735435 D RGD:1581451|PMID:16402077 20180202 RGD DNA:SNP:exon:p.R213H, 638G>A (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:735435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:0080074 neural tube defect ISO RGD:735435 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:24307569 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:0080600 COVID-19 ISO RGD:735435 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:10283 prostate cancer ISO RGD:735435 D RGD:1581454|PMID:14973106 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:10283 prostate cancer no_association ISO RGD:735435 D RGD:9068941 20200609 RGD DNA:SNP:CDS:no association with the 638G->A, amino acid R213H polymorphism in a Japanese population PMID:18368507|REF_RGD_ID:2301050 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:735435 D RGD:1581452|PMID:16137826 20111117 RGD DNA:missense mutation:cds:p.R213H (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:11054 urinary bladder cancer ISO RGD:735435 D RGD:1581442|PMID:14643027 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:1324 lung cancer ISO RGD:735435 D RGD:1581441|PMID:14688021 20180202 RGD DNA:SNP:exon:p.R213H, 638G>A (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:1380 endometrial cancer ISO RGD:735435 D RGD:1581436|PMID:16985250 19990101 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735435 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:1612 breast cancer ISO RGD:735435 D RGD:1581438|PMID:16175316 19990101 RGD DNA:SNP:exon:p.R213H (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735435 D RGD:1581448|PMID:12455060 20180202 RGD DNA:SNP:exon:p.R213H, 638G>A (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735435 D RGD:1581441|PMID:14688021 20180202 RGD DNA:SNP:exon:p.R213H, 638G>A (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735435 D RGD:1581441|PMID:14688021 20180202 RGD DNA:SNP:exon:p.R213H, 638G>A (human) 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:5419 schizophrenia ISO RGD:735435 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:630 genetic disease ISO RGD:735435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14973106 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735435 D RGD:2301050|PMID:18368507 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735435 D RGD:2301045|PMID:18497059 20080923 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9002801 Recurrence ISO RGD:735435 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30120701 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9002981 Genomic Instability ISO RGD:735435 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28326452 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9004643 Urologic Neoplasms ISO RGD:735435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18006944 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9004643 Urologic Neoplasms ISO RGD:735435 D RGD:2301044|PMID:17619904 20080923 RGD Urothelial neoplasms 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:735435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9006024 Hypotension IEP D RGD:1625563|PMID:15942020 20070614 RGD mRNA:increased expression:kidney 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735435 D RGD:2301040|PMID:18318428 20080923 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:735435 D RGD:2301045|PMID:18497059 20080923 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:735435 D RGD:1581449|PMID:11692076 20111116 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30120701 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:1581437|PMID:16328031 19990101 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735435 D RGD:2301046|PMID:16875543 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735435 D RGD:2301048|PMID:15377847 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:735435 D RGD:2301047|PMID:16637266 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:735435 D RGD:2301049|PMID:16080486 20080924 RGD 3767 Sult1a1 sulfotransferase family 1A member 1 gene DOID:9008939 Breast Neoplasms onset ISO RGD:735435 D RGD:2301051|PMID:12373301 20080924 RGD 3768 Sult1c3 sulfotransferase family 1C member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1606856 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3768 Sult1c3 sulfotransferase family 1C member 3 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1606856 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 3768 Sult1c3 sulfotransferase family 1C member 3 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1606856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 3768 Sult1c3 sulfotransferase family 1C member 3 gene DOID:630 genetic disease ISO RGD:1606856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3768 Sult1c3 sulfotransferase family 1C member 3 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1606856 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 3768 Sult1c3 sulfotransferase family 1C member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606856 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 3770 Star steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:11350 D RGD:4145592|PMID:9326645 20101110 RGD 3770 Star steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9279522 3770 Star steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia ISS RGD:735413 D RGD:13592920 20180518 MouseDO OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 3770 Star steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia susceptibility ISO RGD:735413 D RGD:1600070|PMID:8634702 20070227 RGD DNA:transversion:intron:g.IVS4-11T>A (human) 3770 Star steroidogenic acute regulatory protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 3770 Star steroidogenic acute regulatory protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 3770 Star steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome IEP D RGD:4145934|PMID:19698287 20101115 RGD protein:increased expression:ovary (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:735413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21262361 3770 Star steroidogenic acute regulatory protein gene DOID:1459 hypothyroidism IEP D RGD:4889527|PMID:17244746 20101203 RGD mRNA:increased expression:corpus luteum (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:1924 hypogonadism IEP D RGD:4833436|PMID:17880366 20101118 RGD mRNA:decreased expression:testis (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:2527 nephrosis IEP D RGD:1599698|PMID:16574160 20070227 RGD mRNA:decreased expression:ovary 3770 Star steroidogenic acute regulatory protein gene DOID:607 paraplegia ISO RGD:735413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 3770 Star steroidogenic acute regulatory protein gene DOID:630 genetic disease ISO RGD:735413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3770 Star steroidogenic acute regulatory protein gene DOID:9000972 Fever IEP D RGD:4845252|PMID:20389168 20101118 RGD protein:decreased expression:testis (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4832477|PMID:17881205 20101118 RGD mRNA:increased expression:adrenal gland, maternal (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11502818|PMID:22028173 3770 Star steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:7240710 20130221 OMIM 3770 Star steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9279522 3770 Star steroidogenic acute regulatory protein gene DOID:9003936 Cardiomegaly IEP D RGD:4145630|PMID:19349910 20101110 RGD mRNA:increased expression:cardiac muscle tissue (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4145530|PMID:20826654 20101109 RGD mRNA:decreased expression:sciatic nerve (rat) 3770 Star steroidogenic acute regulatory protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:735413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 3770 Star steroidogenic acute regulatory protein gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4889107|PMID:18481435 20101124 RGD mRNA:decreased expression:testis, Leydig cell (rat) 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0050117 disease by infectious agent ISO RGD:732184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:28492532 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0080162 lupus nephritis ISO RGD:732184 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0080600 COVID-19 ISO RGD:732184 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:7240710 20140911 OMIM 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive PMID:12590259|PMID:16199547|PMID:16585605|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22651901|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23585529|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25326637|PMID:25367169|PMID:25662309|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26467763|PMID:26479788|PMID:26494717|PMID:26513235|PMID:26604104|PMID:26621323|PMID:26732859|PMID:26743090|PMID:26938784|PMID:26948078|PMID:27114460|PMID:27117246|PMID:27146670|PMID:27379765|PMID:27577878|PMID:27808400|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28367431|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28601685|PMID:28622416|PMID:28753426|PMID:28815025|PMID:28859974|PMID:29111217|PMID:29317535|PMID:30030262|PMID:30131873|PMID:30442829|PMID:31114772|PMID:31362757|PMID:31367980|PMID:31448411|PMID:31677808|PMID:31686315|PMID:32135276|PMID:32506361|PMID:32582194|PMID:32888943|PMID:33096415|PMID:33225392|PMID:33679782|PMID:34093558|PMID:34114647|PMID:9536098 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:7240710 20170503 OMIM 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency PMID:11452125|PMID:16934001|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22573496|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26513235|PMID:26604104|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28815025|PMID:30030262|PMID:32135276|PMID:9536098 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:7240710 20140903 OMIM 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome PMID:21714643|PMID:21727188|PMID:22195034|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25288569|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26494717|PMID:26604104|PMID:26743090|PMID:27114460|PMID:27379765|PMID:27577878|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28622416|PMID:28815025|PMID:30317461|PMID:30442829|PMID:31362757|PMID:31448411|PMID:32582194|PMID:33679782 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:12155 lymphocytic choriomeningitis exacerbates ISO RGD:732185 D RGD:124715469|PMID:22496215 20210325 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer ISS RGD:732185 D RGD:13592920 20180518 MouseDO OMIM:114480 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732184 D RGD:2291892|PMID:17868458 20080403 RGD protein:increased expression:breast 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:1883 hepatitis C ISO RGD:732184 D RGD:11074283|PMID:26216956 20210326 RGD protein:increased expression:liver 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21714643 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis PMID:21714643|PMID:21727188|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25741868|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28427548|PMID:28492532|PMID:28815025 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:2154 nephroblastoma ISO RGD:732184 D RGD:2291893|PMID:16799645 20080403 RGD protein:increased serine phosphorylation:kidney 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:234 colon adenocarcinoma ISO RGD:732184 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNPs:introns: (rs2280232, rs4327257) (human) 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732184 D RGD:2290484|PMID:9748134 20080403 RGD protein:increased activity:prostate 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:2945 severe acute respiratory syndrome ISS RGD:732185 D RGD:13592920 20200709 MouseDO 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:3314 angiomyolipoma ISO RGD:732184 D RGD:2298537|PMID:15994429 20080709 RGD protein:increased serine phosphorylation:kidney 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:732184 D RGD:2298537|PMID:15994429 20080709 RGD protein:increased serine phosphorylation:lung 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732184 D RGD:2291894|PMID:12374673 20080403 RGD protein:increased activity:breast 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:732184 D RGD:153298934|PMID:33042401 20220729 RGD mRNA:increased expression:stomach (human) 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:3770 pulmonary fibrosis IDA D RGD:1600092|PMID:16806015 20070227 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:4074 pancreatic adenocarcinoma ameliorates ISO RGD:732184 D RGD:155630608|PMID:24658320 20221025 RGD protein:increased expression:pancreas (human) 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:5082 liver cirrhosis ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17133483 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:5434 scrapie ISO RGD:732185 D RGD:6483034|PMID:17897356 20120510 RGD protein:increased expression:brain 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732184 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:21727188|PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:630 genetic disease ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24343863|PMID:26479788|PMID:27114460|PMID:28492532|PMID:28753426|PMID:30030262 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:824 periodontitis treatment ISO RGD:732185 D RGD:18936995|PMID:26825585 20200127 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9000918 Disease Progression ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732184 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29147627 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9000998 Brain Injuries IMP D RGD:6483023|PMID:21596098 20120510 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9001276 Failure to Thrive ISO RGD:732184 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11452125 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9001488 Human Influenza ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis IDA D RGD:1582346|PMID:14674010 20070228 RGD protein:increased tyrosine phosphorylation:macrophage, synovial cell 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15188379 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732185 D RGD:6483041|PMID:22066025 20120510 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury IDA D RGD:1600103|PMID:15262323 20070228 RGD protein:increased serine phosphorylation:brain 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2291900|PMID:17670769 20080403 RGD protein:increased phosphorylation:kidney 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732184 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004484 Sepsis IDA D RGD:2291905|PMID:17067487 20080403 RGD protein:increased activity:liver, lung, small intestine 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004538 Hearing Loss ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20712533 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:732184 D RGD:8554872 20170131 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:732184 D RGD:1600087|PMID:11452125 20070227 RGD DNA:transition: ; 2116T>C 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732185 D RGD:2291895|PMID:11325527 20080403 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1600105|PMID:14678947 20070228 RGD protein:increased tyrosine phosphorylation:glomerulus 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9006062 Nervous System Trauma IDA D RGD:1600090|PMID:17097800 20080403 RGD protein:increased phosphorylation:ganglion 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:732184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16688530 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9006487 Reoviridae Infections ISO RGD:732185 D RGD:6483036|PMID:17849321 20120510 RGD 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9007661 Dwarfism ISO RGD:732184 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Short stature PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 3771 Stat1 signal transducer and activator of transcription 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1600091|PMID:16935931 20070227 RGD protein:increased phosphorylation:heart 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0001816 angiosarcoma ISO RGD:737517 D RGD:8694308|PMID:18700251 20140730 RGD protein:increased phosphorylation:blood vessel 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30481203 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:6892915|PMID:22684844 20120815 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24090995 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050589 inflammatory bowel disease ISS RGD:69005 D RGD:13592920 20180518 MouseDO 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:69005 D RGD:7495791|PMID:23619365 20140804 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10618415|PMID:24448315 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0050902 medulloblastoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19001435 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737517 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:8694319|PMID:23596790 20140731 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737517 D RGD:6892715|PMID:22859607 20120814 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:69005 D RGD:10403054|PMID:21176403 20151105 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:127284843|PMID:29229353 20210609 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737517 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:6483030|PMID:18782535 20120510 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:17881745|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20032313|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21792878|PMID:22751495|PMID:24033266|PMID:25741868|PMID:26384563|PMID:27226025|PMID:27799162|PMID:27980540|PMID:28098554|PMID:28315006|PMID:28492532|PMID:29077208|PMID:29868029 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737517 D RGD:153298933|PMID:17225522 20220729 RGD protein:increased expression:nasal cavity (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:737517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 PMID:25741868 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10283 prostate cancer treatment ISO RGD:737517 D RGD:8694291|PMID:15374974 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:2291910|PMID:18210874 20080404 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:2298538|PMID:11987152 20080709 RGD protein:increased activity:prostate gland 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737517 D RGD:21081544|PMID:29658610 20200225 RGD protein:increased phosphorylation:peripheral blood mononuclear cell 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer ISO RGD:737517 D RGD:126908003|PMID:31396300 20210524 RGD human cells in mouse model, associated with mental depression; protein:increased phosphorylation:stomach (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer treatment ISO RGD:737517 D RGD:127284846|PMID:29408335 20210611 RGD human cells in mouse model 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:69005 D RGD:10403051|PMID:18813209 20151105 RGD protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:737517 D RGD:10403051|PMID:18813209 20151105 RGD protein:decreased tyrosine phosphorylation:dentate gyrus 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:11054 urinary bladder cancer ISO RGD:737517 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1107 esophageal carcinoma treatment ISO RGD:737517 D RGD:127285656|PMID:25724470 20210624 RGD associated with Immune Deficiency Disease, human cells in mouse model 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:114 heart disease treatment IEP D RGD:8694329|PMID:23404057 20140731 RGD associated with Shock, Septic 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1227 neutropenia IAGP D RGD:6892936|PMID:22591296 20171207 RGD associated with T-cell large granular lymphocyte leukemia 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:12849 autistic disorder ISO RGD:69005 D RGD:6483028|PMID:19766327 20120510 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease ISO RGD:737517 D RGD:6483021|PMID:22205606 20120510 RGD DNA:SNP: :rs2293152 (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease no_association ISO RGD:737517 D RGD:8694309|PMID:23127549 20140730 RGD DNA:SNP: :rs744166, rs2293152 (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1596 depressive disorder ISO RGD:69005 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased phosphorylation:hippocampus (mouse) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer disease_progression ISO RGD:737517 D RGD:8694288|PMID:22374428 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer susceptibility ISO RGD:737517 D RGD:2291912|PMID:17639043 20080404 RGD DNA:snp 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer treatment ISO RGD:737517 D RGD:8694286|PMID:21740845 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer treatment ISO RGD:737517 D RGD:8694291|PMID:15374974 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1724 duodenal ulcer IMP D RGD:8694318|PMID:24385009 20140731 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566705|PMID:26432044 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:737517 D RGD:8694300|PMID:16043897 20140730 RGD protein:increased phosphorylation:skin 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1793 pancreatic cancer ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22348037|PMID:23845849 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1920 hyperuricemia treatment IDA D RGD:10411892|PMID:23442673 20151110 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1936 atherosclerosis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:1996 rectum adenocarcinoma ISO RGD:737517 D RGD:153323313|PMID:22121102 20220812 RGD DNA:missense mutation:CDS: (rs2293152) (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:2154 nephroblastoma disease_progression ISO RGD:737517 D RGD:2291911|PMID:17937859 20080404 RGD protein:increased expression:kidney 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer ameliorates ISO RGD:737517 D RGD:151356919|PMID:29899555 20220217 RGD human cells in mouse model 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia IDA D RGD:8694326|PMID:23764464 20140731 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia exacerbates IMP D RGD:8694331|PMID:23884942 20140731 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:2316 brain ischemia ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma ISO RGD:737517 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNPs:introns: (rs12949918, rs6503695) (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma treatment ISO RGD:737517 D RGD:125097526|PMID:32504672 20210525 RGD human cells in mouse model 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:2394 ovarian cancer treatment ISO RGD:737517 D RGD:19165135|PMID:25319391 20200131 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:2772 irritant dermatitis treatment ISO RGD:69005 D RGD:8694305|PMID:21511023 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:299 adenocarcinoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:26432044 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3049 Churg-Strauss syndrome ISO RGD:737517 D RGD:6892720|PMID:22772323 20120814 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:305 carcinoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:737517 D RGD:151667907|PMID:31783691 20220412 RGD mRNA, protein:increased expression:brain (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:6892956|PMID:17676033 20120821 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:7240710 20130221 OMIM 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:16199547|PMID:17576681|PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:19577286|PMID:20032313|PMID:20048285|PMID:20093388|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21107604|PMID:21288777|PMID:21324546|PMID:21690253|PMID:21792878|PMID:22030463|PMID:22084479|PMID:22126402|PMID:22581330|PMID:22591296|PMID:22751495|PMID:22859607|PMID:23342295|PMID:23584561|PMID:23584591|PMID:23659370|PMID:23830147|PMID:23926297|PMID:24033266|PMID:24260974|PMID:24350896|PMID:24452316|PMID:24628715|PMID:24837465|PMID:24995504|PMID:25038750|PMID:25359994|PMID:25543043|PMID:25640679|PMID:25739182|PMID:25741868|PMID:25873174|PMID:26384563|PMID:26702067|PMID:26743515|PMID:27091139|PMID:27226025|PMID:27302695|PMID:27315770|PMID:27345172|PMID:27379089|PMID:27799162|PMID:27884935|PMID:27980540|PMID:28098554|PMID:28197791|PMID:28253502|PMID:28315006|PMID:28356514|PMID:28359783|PMID:28492532|PMID:28579554|PMID:28587312|PMID:28977911|PMID:29077208|PMID:29162862|PMID:29180260|PMID:29296824|PMID:29330115|PMID:29868029|PMID:29931222|PMID:30092289|PMID:30443250|PMID:30617622|PMID:30910759|PMID:30940614|PMID:31069200|PMID:31558678|PMID:31596517|PMID:31717342|PMID:31737384|PMID:31770611|PMID:31774495|PMID:32047491|PMID:32135276|PMID:32231398|PMID:32248557|PMID:32499645|PMID:32531373|PMID:32768442|PMID:32888943|PMID:32901917|PMID:32915432|PMID:32944025|PMID:33003453|PMID:33343952|PMID:33365035|PMID:33717144|PMID:34060650|PMID:34134972|PMID:34366294|PMID:4161105|PMID:9536098 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3314 angiomyolipoma ISO RGD:737517 D RGD:2298537|PMID:15994429 20080709 RGD protein:increased tyrosine phosphorylation:kidney 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737517 D RGD:2298537|PMID:15994429 20080709 RGD protein:increased tyrosine phosphorylation:lung 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737517 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737517 D RGD:153298934|PMID:33042401 20220818 RGD mRNA:increased expression:stomach (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:69005 D RGD:6892915|PMID:22684844 20120817 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:737517 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737517 D RGD:152023747|PMID:22977534 20220427 RGD protein:increased phosphorylation:lung (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:417 autoimmune disease ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma ISO RGD:737517 D RGD:2291913|PMID:17602083 20080404 RGD DNA:snp 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737517 D RGD:2291917|PMID:12131365 20080709 RGD protein:increased phosphorylation:kidney 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:5082 liver cirrhosis ISO RGD:69005 D RGD:6892914|PMID:22687286 20120815 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:5434 scrapie ISO RGD:69005 D RGD:6483034|PMID:17897356 20120510 RGD protein:increased tyrosine phosphorylation:brain, nucleus 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737517 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27064016 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:737517 D RGD:8694302|PMID:24395569 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737517 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:6000 congestive heart failure ISO RGD:737517 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:612 primary immunodeficiency disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28253502|PMID:28492532|PMID:29180260|PMID:29330115|PMID:30443250|PMID:32499645|PMID:33365035|PMID:33717144 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:630 genetic disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20816194|PMID:22030463|PMID:22581330|PMID:23434585|PMID:25741868|PMID:27803324|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30315710|PMID:31170499|PMID:9671298 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:684 hepatocellular carcinoma ISO RGD:69005 D RGD:127285675|PMID:28100771 20210627 RGD protein:increased phosphorylation:liver (mouse) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737517 D RGD:6892936|PMID:22591296 20120817 RGD associated with T-cell large granular lymphocyte leukemia 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:824 periodontitis treatment ISO RGD:69005 D RGD:18936995|PMID:26825585 20200127 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:20228799 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:6483020|PMID:22269120 20120510 RGD DNA:SNP: :rs744166 (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:874 bacterial pneumonia ISO RGD:69005 D RGD:6892945|PMID:18192501 20120820 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:6483020|PMID:22269120 20120510 RGD DNA:SNP: : (rs744166) (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:6483027|PMID:20109474 20120510 RGD DNA:SNPs: : (rs744166, rs3816769) (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:69005 D RGD:8694295|PMID:23594598 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:737517 D RGD:8694306|PMID:20811392 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8923 skin melanoma disease_progression ISO RGD:737517 D RGD:8694297|PMID:21876460 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737517 D RGD:2291916|PMID:17110342 20080404 RGD protein:increased expression:nucleus 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737517 D RGD:2298536|PMID:16005944 20080709 RGD protein:increased serine phosphorylation:cervix epithelium 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:7240710 20160720 OMIM 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STAT3-related early-onset multisystem autoimmune disease PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:21288777|PMID:21324546|PMID:22581330|PMID:24033266|PMID:24452316|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25741868|PMID:27345172|PMID:27799162|PMID:28072956|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30443250|PMID:30940614|PMID:32499645|PMID:32531373|PMID:32944025|PMID:33003453|PMID:33365035|PMID:33717144|PMID:34366294|PMID:4161105 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:8694356|PMID:24517975 20140804 RGD mRNA, protein:increased expression, increased phosphorylation:cerebral artery 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000784 Fibrosis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:23382965|PMID:26101800 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:2291915|PMID:17382154 20080404 RGD associated with Prostatic Neoplasms;protein:decreased activity 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:2291917|PMID:12131365 20080404 RGD associated with Carcinoma, Renal Cell;protein:increased phosphorylation 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737517 D RGD:8694303|PMID:16540670 20140730 RGD associated with Melanoma 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000972 Fever ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries IDA D RGD:6892706|PMID:22827467 20120814 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries IDA D RGD:8694312|PMID:22145815 20140730 RGD protein:increased phosphorylation:brain 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries IMP D RGD:6483023|PMID:21596098 20120510 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:10403057|PMID:23094067 20151105 RGD associated with Diabetes Mellitus, Experimental 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:8694307|PMID:17525280 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001472 Nasal Polyps ISO RGD:737517 D RGD:8694314|PMID:22959364 20140731 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737517 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:26297436|PMID:28100771 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:8694310|PMID:21858029 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9001866 Pyogenic Granuloma ISO RGD:737517 D RGD:8694308|PMID:18700251 20140730 RGD protein:increased phosphorylation:blood vessel 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:10403082|PMID:22745068 20151109 RGD associated with Diabetes Mellitus, Experimental 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:737517 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:8694290|PMID:24098399 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69005 D RGD:2291908|PMID:18317887 20080403 RGD protein:increased expression:prostate gland 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14975756|PMID:16427044|PMID:25970160 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis ISO RGD:737517 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:15188379|PMID:21937456 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:10403081|PMID:23711144 20151109 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21909139 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:2291931|PMID:15771796 20080404 RGD protein:increased phosphorylation:ovary 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69005 D RGD:6483041|PMID:22066025 20120510 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69005 D RGD:6892946|PMID:17878325 20120820 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69005 D RGD:8694296|PMID:16303927 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:1643476|PMID:17311011 20080404 RGD protein:increased tyrosine phosphorylation:uterine cervix 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9003936 Cardiomegaly ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10618415|PMID:19299911|PMID:24448315 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004009 Reperfusion Injury ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737517 D RGD:8694293|PMID:17318196 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004462 Atrophy ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004464 Skin Neoplasms ISO RGD:69005 D RGD:8694289|PMID:19137019 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004464 Skin Neoplasms ISO RGD:69005 D RGD:8694294|PMID:18453544 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004484 Sepsis treatment IDA D RGD:10411888|PMID:24228589 20151110 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737517 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26101800 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69005 D RGD:2291914|PMID:17483332 20080404 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005372 Inflammation ISO RGD:737517 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943775|PMID:21937456|PMID:24448315 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2291921|PMID:18230613 20080404 RGD protein:increased tyrosine phosphorylation:aorta endothelium 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69005 D RGD:8694292|PMID:22660795 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:69005 D RGD:8694304|PMID:22238646 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms ISO RGD:737517 D RGD:8694287|PMID:17169602 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:737517 D RGD:8694311|PMID:22302289 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9006205 Animal Disease Models ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:69005 D RGD:8699499|PMID:23870655 20140813 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:69005 D RGD:8694299|PMID:18424728 20140730 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9007188 Liver Neoplasms ISO RGD:737517 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12957465 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737517 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:25970160|PMID:26101800|PMID:34953898 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737517 D RGD:1643476|PMID:17311011 20080404 RGD protein:increased tyrosine phosphorylation:endometrium 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:8694332|PMID:23796350 20140731 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment IDA D RGD:10403076|PMID:23236988 20151106 RGD 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis ISO RGD:737517 D RGD:8694309|PMID:23127549 20140730 RGD DNA:SNP: :rs744166 (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis no_association ISO RGD:737517 D RGD:8694309|PMID:23127549 20140730 RGD DNA:SNP: :rs2293152 (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9008023 Memory Disorders ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17928813 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9008691 Liver Injury treatment IDA D RGD:8694328|PMID:24161994 20140731 RGD associated with Pancreatitis, Acute 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9008939 Breast Neoplasms ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14975756 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9256 colorectal cancer ISS RGD:69005 D RGD:13592920 20180518 MouseDO OMIM:114500 | OMIM:608812 | OMIM:611469 | OMIM:612229 | OMIM:612230 | OMIM:612231 | OMIM:612232 | OMIM:612589 | OMIM:612590 | OMIM:612591 | OMIM:612592 | OMIM:615083 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:737517 D RGD:149735327|PMID:30123088 20210714 RGD protein:increased expression:mucosa of nasopharynx (human) 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737517 D RGD:8694321|PMID:23043161 20140731 RGD protein:increased tyrosine phosphorylation:skeletal muscle 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9970 obesity IDA D RGD:10411893|PMID:23397595 20151110 RGD protein:decreased phosphorylation:hypothalamus 3772 Stat3 signal transducer and activator of transcription 3 gene DOID:9997 peripartum cardiomyopathy ISS RGD:69005 D RGD:13592920 20180518 MouseDO 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0050938 breast lobular carcinoma ISO RGD:737523 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:2291930|PMID:16133357 20080404 RGD protein:decreased expression:breast 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:2291932|PMID:15609129 20080404 RGD protein:altered localization:nucleus 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737523 D RGD:151665817|PMID:27018255 20220405 RGD protein:increased phosphorylation:bone marrow (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma disease_progression ISO RGD:737523 D RGD:151667415|PMID:23660011 20220412 RGD DNA:CNV: :prostate (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:11351 D RGD:151667415|PMID:23660011 20220412 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:10283 prostate cancer disease_progression ISO RGD:737523 D RGD:151667415|PMID:23660011 20220412 RGD DNA:CNV: :prostate (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:10485 esophageal atresia ISO RGD:737523 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:234 colon adenocarcinoma ISO RGD:737523 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNP:intron: (rs7217728) (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:299 adenocarcinoma ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20235097|PMID:21552421 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:305 carcinoma ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:17173897 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma disease_progression ISO RGD:737523 D RGD:151667907|PMID:31783691 20220412 RGD mRNA, protein:increased expression:brain (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma treatment ISO RGD:737523 D RGD:151667907|PMID:31783691 20220412 RGD human cells in mouse model 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:3457 invasive lobular carcinoma ISO RGD:737523 D RGD:2291932|PMID:15609129 20080404 RGD protein:altered localization:nucleus 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737523 D RGD:153298934|PMID:33042401 20220729 RGD mRNA:increased expression:stomach (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:630 genetic disease ISO RGD:737523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:11351 D RGD:127285675|PMID:28100771 20210627 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:707 B-cell lymphoma ISO RGD:11351 D RGD:151665817|PMID:27018255 20220405 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia ISO RGD:737523 D RGD:151667904|PMID:31952546 20220412 RGD mRNA:increased expression:PBMC (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:11351 D RGD:151667903|PMID:16522816 20220412 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737523 D RGD:151667904|PMID:31952546 20220412 RGD human cells in mouse model 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942|PMID:17173897|PMID:20235097 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737523 D RGD:151667415|PMID:23660011 20220412 RGD DNA:CNV: :prostate (human) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9004009 Reperfusion Injury IEP D RGD:2303397|PMID:17880360 20090211 RGD mRNA:increased expression:hippocampus 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9004713 Acute-Phase Reaction IEP D RGD:151665740|PMID:7519723 20220330 RGD protein:increased expression:liver (rat) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005172 Lung Neoplasms ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2291927|PMID:17173897 20080404 RGD protein:increased tyrosine phosphorylation:mammary gland 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2291932|PMID:15609129 20080404 RGD protein:altered localization:nucleus 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292404|PMID:12376462 20220330 RGD mRNA, protein:increased expression:mammary gland (rat) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11351 D RGD:151665819|PMID:20181624 20220405 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:11351 D RGD:2298539|PMID:12082622 20080709 RGD 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737523 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9007102 Myocardial Ischemia ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15746188 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9008138 Ductal Carcinoma ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:2291930|PMID:16133357 20080404 RGD protein:decreased expression:breast 3773 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:2291932|PMID:15609129 20080404 RGD protein:altered localization:nucleus 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0050751 T-cell large granular lymphocyte leukemia ISO RGD:730906 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:29200404 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma ameliorates ISO RGD:730906 D RGD:11076784|PMID:23733954 20220812 RGD human cells in a mouse model 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:730906 D RGD:153298931|PMID:21826656 20220729 RGD protein:increased expression:colorectum (human) 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:730906 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17030597 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:7240710 20131030 OMIM 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:13679528|PMID:15827093|PMID:16199547|PMID:16464942|PMID:16787985|PMID:17030597|PMID:17576681|PMID:20538865|PMID:24033266|PMID:24825865|PMID:24972766|PMID:25586472|PMID:25741868|PMID:26703237|PMID:27600764|PMID:28492532|PMID:29200404|PMID:29844444|PMID:9536098 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:7240710 20200910 OMIM 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:29844444|PMID:31902742 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:730906 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:234 colon adenocarcinoma ISO RGD:730906 D RGD:153323313|PMID:22121102 20220812 RGD DNA:SNPs:introns: (rs6503691, rs7218653) (human) 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:730906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 PMID:28492532 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:730906 D RGD:153298934|PMID:33042401 20220729 RGD mRNA:increased expression:stomach (human) 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730906 D RGD:153298930|PMID:25137041 20220729 RGD mRNA,protein:increased expression:lung (human) 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730906 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:630 genetic disease ISO RGD:730906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:730906 D RGD:153298932|PMID:31485610 20220729 RGD mRNA:increased expression:liver (human) 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:730906 D RGD:153298929|PMID:17047057 20220729 RGD protein:increased expression:liver (human) 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9002304 Prostatic Neoplasms ISO RGD:11352 D RGD:2291933|PMID:14695191 20080404 RGD 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9002669 Hypoxia IEP D RGD:1601380|PMID:16730240 20070418 RGD mRNA:increased expression:perifornical nucleus 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9002720 Splenomegaly ISO RGD:730906 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:730906 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9004009 Reperfusion Injury IEP D RGD:2303397|PMID:17880360 20090211 RGD mRNA:increased expression:hippocampus 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9004713 Acute-Phase Reaction IDA D RGD:2291935|PMID:17565389 20080404 RGD protein:decreased activity:liver 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2291940|PMID:17003334 20080404 RGD 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9005930 Endotoxemia IDA D RGD:1601383|PMID:17327369 20070418 RGD protein:decreased tyrosine phosphorylation:liver 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9007188 Liver Neoplasms exacerbates ISO RGD:11352 D RGD:153298928|PMID:24838184 20220729 RGD B6 strain 3774 Stat5b signal transducer and activator of transcription 5B gene DOID:9008671 T-Lymphocytopenia ISO RGD:730906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17030597 3775 Hspa13 heat shock protein family A (Hsp70) member 13 gene DOID:10652 Alzheimer's disease ISO RGD:735529 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 3775 Hspa13 heat shock protein family A (Hsp70) member 13 gene DOID:630 genetic disease ISO RGD:735529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3775 Hspa13 heat shock protein family A (Hsp70) member 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735529 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:12351 alcoholic hepatitis ISO RGD:1351097 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:1380 endometrial cancer ISO RGD:1351097 D RGD:2301040|PMID:18318428 20080923 RGD 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1351097 D RGD:1581439|PMID:15894657 20081230 RGD DNA:SNP:intron, 3' utr:IVS4-1653T>C, *959G>A 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1351097 D RGD:2302563|PMID:17372239 20081230 RGD DNA:SNP:promoter:-64G>A 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:409 liver disease ISO RGD:1351097 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:25922074 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:630 genetic disease ISO RGD:1351097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:2302565|PMID:16895976 20081230 RGD associated with Colonic Neoplasms;protein:increased expression:liver 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1351097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351097 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351097 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2302564|PMID:16908442 20081230 RGD protein:increased expression:serum 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1351097 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:25922074 3776 Sult1e1 sulfotransferase family 1E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351097 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 3779 Stk10 serine/threonine kinase 10 gene DOID:630 genetic disease ISO RGD:733000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3779 Stk10 serine/threonine kinase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3780 Slk STE20-like kinase gene DOID:303 substance-related disorder ISO RGD:733761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 3780 Slk STE20-like kinase gene DOID:630 genetic disease ISO RGD:733761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3780 Slk STE20-like kinase gene DOID:9004009 Reperfusion Injury IEP D RGD:2304069|PMID:12965890 20090305 RGD protein:increased expression:kidney 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27441201|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1344342 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:7240710 20170510 OMIM 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:18414213|PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:3066688|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:7240710 20170125 OMIM 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:17576681|PMID:18414213|PMID:19822871|PMID:20805988|PMID:23033978|PMID:23166088|PMID:23360469|PMID:23647072|PMID:23692823|PMID:24697219|PMID:24811917|PMID:25326326|PMID:25326635|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26740508|PMID:26758118|PMID:26795593|PMID:27441201|PMID:27652284|PMID:27779742|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:30866059|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838|PMID:9536098 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344342 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1344342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:25741868|PMID:28492532 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1059 intellectual disability ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:23033978|PMID:23647072|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:33004838 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344342 D RGD:10401216|PMID:8750861 20151001 RGD protein:increased expression:CA1field of hippocampus: 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:2394 ovarian cancer ISO RGD:1344342 D RGD:2303420|PMID:12053177 20090212 RGD DNA, mRNA:amplification, increased expression:ovary 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:630 genetic disease ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:32196822|PMID:32429945|PMID:7491491|PMID:9253415 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9002955 Nerve Degeneration IEP D RGD:10401216|PMID:8750861 20151001 RGD protein:increased expression:CA1&CA3 fields of hippocampus: 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344342 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344342 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008582 Developmental Disease ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 3781 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 3782 Strn striatin gene DOID:630 genetic disease ISO RGD:736385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3782 Strn striatin gene DOID:9000998 Brain Injuries IEP D RGD:2311293|PMID:16351572 20090706 RGD 3783 Sts steroid sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:735809 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3783 Sts steroid sulfatase gene DOID:0080600 COVID-19 ISO RGD:735809 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3783 Sts steroid sulfatase gene DOID:10763 hypertension IEP D RGD:1601393|PMID:8539776 20070418 RGD protein:increased expression:multiple organs 3783 Sts steroid sulfatase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18413370 3783 Sts steroid sulfatase gene DOID:11383 cryptorchidism IEP D RGD:1601402|PMID:2576297 20070418 RGD protein:increased expression:scrotum, testis 3783 Sts steroid sulfatase gene DOID:12351 alcoholic hepatitis ISO RGD:735809 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 3783 Sts steroid sulfatase gene DOID:12849 autistic disorder ISO RGD:735809 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3783 Sts steroid sulfatase gene DOID:13938 amenorrhea ISO RGD:735809 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 3783 Sts steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9623797|PMID:10679952|PMID:14641695 3783 Sts steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:7240710 20130221 OMIM 3783 Sts steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:1539590|PMID:18413370|PMID:25741868|PMID:2668275|PMID:28492532|PMID:3007328|PMID:3032454|PMID:7208152|PMID:9252398 3783 Sts steroid sulfatase gene DOID:1969 cerebral palsy ISO RGD:735809 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 3783 Sts steroid sulfatase gene DOID:5419 schizophrenia ISO RGD:735809 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3783 Sts steroid sulfatase gene DOID:543 dystonia ISO RGD:735809 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 3783 Sts steroid sulfatase gene DOID:630 genetic disease ISO RGD:735809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3783 Sts steroid sulfatase gene DOID:7148 rheumatoid arthritis ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 3783 Sts steroid sulfatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735809 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3783 Sts steroid sulfatase gene DOID:9004657 Weight Gain ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24497646 3783 Sts steroid sulfatase gene DOID:9005372 Inflammation ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24497646 3783 Sts steroid sulfatase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24497646 3783 Sts steroid sulfatase gene DOID:9007692 Insulin Resistance ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24497646 3783 Sts steroid sulfatase gene DOID:9452 fatty liver disease ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24497646 3783 Sts steroid sulfatase gene DOID:9970 obesity ISO RGD:735809 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24497646 3784 Stx1b syntaxin 1B gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:736110 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 3784 Stx1b syntaxin 1B gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736110 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 3784 Stx1b syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:7240710 20170222 OMIM 3784 Stx1b syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:11591834|PMID:16199547|PMID:17576681|PMID:18479394|PMID:25362483|PMID:25741868|PMID:26467025|PMID:26818399|PMID:28166811|PMID:28492532|PMID:30737342|PMID:31273778|PMID:9536098 3784 Stx1b syntaxin 1B gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736111 D RGD:12903957|PMID:26604869 20170511 RGD 3784 Stx1b syntaxin 1B gene DOID:1826 epilepsy ISO RGD:736110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 3784 Stx1b syntaxin 1B gene DOID:630 genetic disease ISO RGD:736110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691641|PMID:25362483|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30737342 3784 Stx1b syntaxin 1B gene DOID:9001793 Generalized Epilepsy ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 3784 Stx1b syntaxin 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736110 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25362483|PMID:25741868 3784 Stx1b syntaxin 1B gene DOID:9007956 Febrile Seizures ISO RGD:736110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050562 West syndrome ISO RGD:737322 D RGD:12903963|PMID:23409955 20170511 RGD DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050562 West syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:20887364|PMID:21193638|PMID:22612257|PMID:23934111|PMID:25326390|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:29186148|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30540253|PMID:30842647|PMID:31221716|PMID:31474318|PMID:32112430 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29655203|PMID:29896790|PMID:30109124|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29655203|PMID:29761117|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:737322 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868|PMID:28708303 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0050952 spastic ataxia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30842647|PMID:31474318|PMID:32238909 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:17576681|PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24315539|PMID:24781210|PMID:25008876|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187|PMID:9536098 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20887364|PMID:22612257|PMID:24781210|PMID:25356970|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27779742|PMID:28492532|PMID:29264391|PMID:30185235|PMID:30842647|PMID:32643187 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21193638|PMID:23934111|PMID:25326390|PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29186148|PMID:29761117|PMID:30174244|PMID:30266908|PMID:30540253|PMID:31221716|PMID:31474318|PMID:32112430 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:11068998|PMID:20876469 20170511 RGD DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:12903960|PMID:18469812 20170511 RGD DNA:deletion, missense mutations:exon:multiple 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:7240710 20130221 OMIM 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23533165|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25326390|PMID:25326635|PMID:25356970|PMID:25418441|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:25951140|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28191889|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29389947|PMID:29655203|PMID:29758562|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31474318|PMID:31780880|PMID:31855252|PMID:32112430|PMID:32238909|PMID:32581362|PMID:32643187|PMID:33004838|PMID:33196034|PMID:33272087|PMID:34008892|PMID:34906502|PMID:35002760|PMID:35007884|PMID:35655584|PMID:9536098 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:737322 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:11361 D RGD:11532386|PMID:26216965 20170511 RGD 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:11361 D RGD:11532386|PMID:26216965 20170511 RGD protein:increased expression:photoreceptor outer segment layer 3785 Stxbp1 syntaxin binding protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 3785 Stxbp1 syntaxin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:737322 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3785 Stxbp1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:30842647|PMID:32581362 3785 Stxbp1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29067685|PMID:29186148|PMID:30185235|PMID:30842647|PMID:32581362|PMID:33196034 3785 Stxbp1 syntaxin binding protein 1 gene DOID:10907 microcephaly ISO RGD:737322 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 3785 Stxbp1 syntaxin binding protein 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:11361 D RGD:12903957|PMID:26604869 20170511 RGD 3785 Stxbp1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 3785 Stxbp1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 3785 Stxbp1 syntaxin binding protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 3785 Stxbp1 syntaxin binding protein 1 gene DOID:1826 epilepsy ISO RGD:737322 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 3785 Stxbp1 syntaxin binding protein 1 gene DOID:1826 epilepsy ISO RGD:737322 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Seizure PMID:24189369|PMID:25418441|PMID:25741868|PMID:28133863|PMID:28492532 3785 Stxbp1 syntaxin binding protein 1 gene DOID:540 strabismus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Strabismus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 3785 Stxbp1 syntaxin binding protein 1 gene DOID:630 genetic disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806828|PMID:16829045|PMID:17301226|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23708187|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:24781210|PMID:24836964|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25356970|PMID:25533962|PMID:25556537|PMID:25621899|PMID:25714420|PMID:25741868|PMID:25914188|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26537360|PMID:26544041|PMID:26633542|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27069701|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28492532|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29761117|PMID:29896790|PMID:30504930|PMID:31175295|PMID:31255830|PMID:32238909|PMID:32581362|PMID:32643187|PMID:33196034|PMID:33272087|PMID:35007884|PMID:35655584|PMID:9536098|PMID:9545644 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9000495 Tremor ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: tremors PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20887364|PMID:21762454|PMID:23934111|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26648591|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27171548|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:32581362 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737322 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:737322 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:18469812|PMID:29929108 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:737322 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Spasticity 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:22495311|PMID:23409955|PMID:25741868|PMID:26467025|PMID:26514728|PMID:26865513|PMID:27069701|PMID:28492532 3785 Stxbp1 syntaxin binding protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17389331|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19342262|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23093687|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24622368|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27271189|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28701683|PMID:29216354|PMID:29439679|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33606663|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060319 cardiac arrest treatment IMP D RGD:12791997|PMID:26010685 20170307 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16199547|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30515958|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:14764815|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISS RGD:736889 D RGD:13592920 20180518 MouseDO OMIM:601410 | OMIM:610374 | OMIM:610582 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15513899|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15842514|PMID:15855351|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24768178|PMID:24814349|PMID:24959012|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26758964|PMID:27175728|PMID:27313609|PMID:27538677|PMID:27677908|PMID:27681997|PMID:27754802|PMID:27810688|PMID:27908292|PMID:27913849|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34631896|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:7240710 20180912 OMIM 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11018078|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12169627|PMID:12199344|PMID:12364426|PMID:12559865|PMID:12627323|PMID:12784138|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15561897|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17378627|PMID:17384337|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17990484|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18390792|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:20042013|PMID:20427569|PMID:20432820|PMID:20573158|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21214702|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21544516|PMID:21617188|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:21992908|PMID:22151254|PMID:22210575|PMID:22308858|PMID:22533711|PMID:22562119|PMID:22662265|PMID:22704848|PMID:22796691|PMID:22802590|PMID:22855730|PMID:22876564|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23266803|PMID:23273570|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:23771920|PMID:23798684|PMID:23903354|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24080777|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24411943|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26208381|PMID:26246406|PMID:26268944|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26545876|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27334808|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27691052|PMID:27754802|PMID:27810688|PMID:27889714|PMID:27908292|PMID:27913849|PMID:28018462|PMID:28095440|PMID:28270372|PMID:28346775|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29082728|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29675256|PMID:29751826|PMID:30098243|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31208162|PMID:31218401|PMID:31291970|PMID:31464105|PMID:31595705|PMID:31604004|PMID:31727138|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32202736|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33502730|PMID:33728157|PMID:34015902|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34764980|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9382893 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0080855 Parkinsonism IEP D RGD:1598645|PMID:15857625 20061209 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:7240710 20130221 OMIM 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy PMID:10204114|PMID:10426386|PMID:10857971|PMID:15356046|PMID:15579781|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21142918|PMID:21422196|PMID:21674179|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22533711|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23563683|PMID:24332968|PMID:24401662|PMID:25741868|PMID:25765446|PMID:25871929|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27538677|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30386300|PMID:30515958|PMID:30977832|PMID:31110826|PMID:31604004|PMID:32027066|PMID:32792356|PMID:32928245|PMID:33400071|PMID:34194474|PMID:34777243|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9648840 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1059 intellectual disability ISO RGD:733938 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:10763 hypertension ISO RGD:733938 D RGD:737749|PMID:11030411 19990101 RGD associated with obesity;DNA:polymorphism:exon: 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11383 cryptorchidism ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11446 sciatic neuropathy IEP D RGD:12791994|PMID:21907492 20170307 RGD protein:decreased expression:spinal cord 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11717 neonatal diabetes ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:15513899|PMID:16613899|PMID:16885549|PMID:17389331|PMID:17446535|PMID:17668386|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19095654|PMID:20301620|PMID:21109997|PMID:21989597|PMID:22451668|PMID:22749773|PMID:24622368|PMID:25741868|PMID:26208381|PMID:26467025|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356|PMID:32893419 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11832 visual epilepsy IEP D RGD:2301911|PMID:18021373 20081107 RGD mRNA, protein:altered expression:dentate gyrus 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20573158|PMID:20685672|PMID:20799350|PMID:20943779|PMID:20943781|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24686051|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:28492532|PMID:28701683|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30977832|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32792356|PMID:32928245|PMID:34631896|PMID:34764980|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISS RGD:736889 D RGD:13592920 20180518 MouseDO OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1824 status epilepticus IEP D RGD:5686281|PMID:22050960 20170307 RGD mRNA:decreased expression:hippocampus 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1882 atrial heart septal defect ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:1625279|PMID:16416420 20070531 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27682711|PMID:27754802|PMID:27908292|PMID:28095440|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30297969|PMID:30352420|PMID:30386300|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32333556|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33185579|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28095440|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30515958|PMID:31291970|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism susceptibility ISO RGD:733938 D RGD:1598639|PMID:12199344 20061208 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:12790979|PMID:23149556 20170223 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:12791996|PMID:24602692 20170307 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema IMP D RGD:1598635|PMID:16550187 20081107 RGD associated with Cerebrovascular Accident 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868|PMID:26467025|PMID:27677908|PMID:28492532 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema treatment IMP D RGD:12791991|PMID:23633925 20170307 RGD associated with Neoplasms, Experimental 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:6000 congestive heart failure ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15356046|PMID:15562009|PMID:15579781|PMID:16357843|PMID:16429405|PMID:16860127|PMID:17378627|PMID:18339976|PMID:18414213|PMID:18493152|PMID:20672374|PMID:21716120|PMID:21851374|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25972930|PMID:26467025|PMID:27175728|PMID:27754802|PMID:28492532|PMID:7716548|PMID:8923011|PMID:9618169|PMID:9648840 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15356046|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16357843|PMID:16429405|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17378627|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18493152|PMID:18599530|PMID:18662362|PMID:18758683|PMID:18767144|PMID:18981553|PMID:19475716|PMID:20672374|PMID:20685672|PMID:20943779|PMID:21544516|PMID:21716120|PMID:21851374|PMID:21989597|PMID:22704848|PMID:22902787|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24411943|PMID:24768178|PMID:24959012|PMID:25008049|PMID:25306193|PMID:25741868|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26221353|PMID:26448950|PMID:26467025|PMID:27175728|PMID:27538677|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28442472|PMID:28492532|PMID:31291970|PMID:31604004|PMID:32027066|PMID:32792356|PMID:33046911|PMID:33300273|PMID:34309670|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9075812|PMID:9618169|PMID:9648840 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:8488 polyhydramnios ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733938 D RGD:12790978|PMID:20410530 20170223 RGD mRNA:increased expression:spinal cord 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736889 D RGD:12790978|PMID:20410530 20170223 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12791993|PMID:25763638 20170307 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:12790978|PMID:20410530 20170223 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000438 Subarachnoid Hemorrhage treatment IMP D RGD:10003028|PMID:24114458 20150429 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000998 Brain Injuries treatment IMP D RGD:12791995|PMID:21107131 20170307 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9001031 Retrognathia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: retrognathism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9002221 Hyperplasia ISO RGD:733938 D RGD:2325205|PMID:9769320 20100525 RGD associated with Hyperinsulinism;DNA:missense mutations:exon:p.R1353P, p.R1421C, p.R1494W (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:7240710 20200520 OMIM 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10204114|PMID:10426386|PMID:10685980|PMID:10857971|PMID:14715863|PMID:15513899|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17539904|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18414213|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20301620|PMID:20849526|PMID:21142918|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22533711|PMID:22802590|PMID:23275527|PMID:23345197|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:27538677|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29751826|PMID:30114684|PMID:30297969|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:33400071|PMID:34171966|PMID:34194474|PMID:34462253|PMID:34777243|PMID:8923011|PMID:9536098 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9003816 Macrocephaly ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:7240710 20130221 OMIM 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:17236890|PMID:17378627|PMID:17389331|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:19933268|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22451668|PMID:22533711|PMID:22562119|PMID:22704848|PMID:22749773|PMID:22802363|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23798684|PMID:23807917|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24622368|PMID:24645945|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28270372|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31264968|PMID:31291970|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32376986|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005603 Muscle Hypotonia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005749 Necrosis IMP D RGD:2301913|PMID:17657312 20081107 RGD associated with Spinal Cord Injuries 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005930 Endotoxemia IEP D RGD:2301914|PMID:17285300 20081107 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:733938 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:10857971|PMID:16885549|PMID:17466004|PMID:21814221|PMID:25741868|PMID:26467025|PMID:28492532 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006257 Growth Disorders ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:11067821|PMID:16429405 20170216 RGD DNA:mutations:exon, intron:multiple 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:11069847|PMID:23652837 20170221 RGD DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:11070657|PMID:21422196 20170210 RGD DNA:mutations:exon, intron:multiple 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10334322|PMID:15579781 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:12743628|PMID:18596924 20170210 RGD DNA:deletion: :p.S1387del (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:12790587|PMID:24401662 20170216 RGD DNA:mutations:exon, intron:multiple 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:12790596|PMID:20573158 20170216 RGD DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:12790723|PMID:23506826 20170221 RGD DNA:mutations:exon:multiple 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:704365|PMID:7716548 19990101 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:10194514|PMID:10334322|PMID:10338089|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10923633|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21199866|PMID:21321069|PMID:21378087|PMID:21716120|PMID:21835061|PMID:21851374|PMID:21968111|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22591706|PMID:22704848|PMID:22802590|PMID:22855730|PMID:23067144|PMID:23261959|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:24145932|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24937539|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25639667|PMID:25741868|PMID:25781672|PMID:25931474|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27754802|PMID:27810688|PMID:27908292|PMID:28270372|PMID:28439221|PMID:28442472|PMID:28492532|PMID:29082728|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30462810|PMID:30487145|PMID:31218401|PMID:31464105|PMID:32027066|PMID:32670376|PMID:32792356|PMID:33046911|PMID:33240318|PMID:33410562|PMID:33587123|PMID:34566892|PMID:34764980|PMID:7716548|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007096 Stroke ISO RGD:733938 D RGD:2301906|PMID:17673715 20081107 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007290 Traumatic Subarachnoid Hemorrhage treatment IMP D RGD:2325137|PMID:18854840 20170223 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007661 Dwarfism ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736889 D RGD:2301903|PMID:18316485 20081107 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9351 diabetes mellitus ISO RGD:733938 D RGD:1625279|PMID:16416420 20070531 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9351 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10204114|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15562009|PMID:16357843|PMID:16416420|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17389331|PMID:17446535|PMID:17668386|PMID:18025408|PMID:18025464|PMID:18346985|PMID:18414213|PMID:18599530|PMID:18981553|PMID:19342262|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21214702|PMID:21378087|PMID:21989597|PMID:22210575|PMID:22562119|PMID:22855730|PMID:23093687|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23771920|PMID:24622368|PMID:24768178|PMID:24814349|PMID:25306193|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26839896|PMID:27271189|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28095440|PMID:28346775|PMID:28492532|PMID:29207974|PMID:29216354|PMID:30487145|PMID:31002010|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:33013711|PMID:33300273|PMID:33587123|PMID:33606663|PMID:34631896|PMID:9618169|PMID:9648840 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9568693|PMID:22209866 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:2301897|PMID:18664331 20081106 RGD DNA:polymorphism:intron:IVS16-3T>C (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:2301898|PMID:18599530 20081106 RGD DNA:polymorphism: :p.S1369A (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:2313628|PMID:17259403 20091006 RGD DNA:missense mutation::A1369S (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:7240710 20130221 OMIM 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:737749|PMID:11030411 19990101 RGD DNA:polymorphism:exon: 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11872696|PMID:12196481|PMID:12475776|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16442101|PMID:16455067|PMID:16885549|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20424228|PMID:20799350|PMID:20849526|PMID:20943779|PMID:21142918|PMID:21378087|PMID:21544516|PMID:21674179|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22704848|PMID:22855730|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29751826|PMID:30098243|PMID:30297969|PMID:30447144|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32893419|PMID:34194474|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:1598640|PMID:15579791 20061208 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:2301901|PMID:18346985 20081107 RGD DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18025464 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9970 obesity ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:15562009|PMID:16199547|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25741868|PMID:26740944|PMID:28492532 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9993 hypoglycemia IMP D RGD:2301896|PMID:18776135 20081106 RGD 3786 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9993 hypoglycemia ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:23275527|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20890277|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050451 Brugada syndrome ISO RGD:735726 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050650 familial atrial fibrillation ISO RGD:735726 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:9536098 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:25979592|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:32746448|PMID:9536098 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735726 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:21344641|PMID:22610116|PMID:23307537|PMID:25590979|PMID:25741868|PMID:27247394|PMID:27316244|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:22610116|PMID:28842488 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:7240710 20141015 OMIM 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:10398267|PMID:15034580|PMID:16199547|PMID:16835932|PMID:17576681|PMID:18414213|PMID:20474083|PMID:20890277|PMID:21344641|PMID:22608503|PMID:22610116|PMID:23307537|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26656175|PMID:26871653|PMID:26938784|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31130284|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32622958|PMID:32746448|PMID:33500567|PMID:9536098 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0080855 Parkinsonism IEP D RGD:1598645|PMID:15857625 20061209 RGD 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:24439875|PMID:25741868|PMID:27532257|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735726 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:7240710 20130425 OMIM 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:12166651|PMID:15034580|PMID:1575858|PMID:16199547|PMID:16563363|PMID:16835932|PMID:17245405|PMID:17576681|PMID:18239147|PMID:19763152|PMID:20307669|PMID:20474083|PMID:20890277|PMID:21344641|PMID:21846889|PMID:22406018|PMID:22608503|PMID:22610116|PMID:23103869|PMID:23307537|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25333069|PMID:25341504|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:26871653|PMID:27101133|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28798025|PMID:29016939|PMID:29030401|PMID:29275331|PMID:30029678|PMID:30177324|PMID:30269836|PMID:30662066|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30878466|PMID:30975432|PMID:31130284|PMID:31575858|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32344918|PMID:32622958|PMID:32746448|PMID:32969603|PMID:33500567|PMID:9536098 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension IEP D RGD:1598644|PMID:15964031 20061209 RGD 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension IEP D RGD:2301909|PMID:18471810 20081107 RGD protein:decreased expression:aorta 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:11446 sciatic neuropathy IEP D RGD:12791994|PMID:21907492 20170307 RGD protein:decreased expression:spinal cord 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17245405|PMID:25741868|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12166651|PMID:20474083|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735726 D RGD:1300328|PMID:15034580 19990101 RGD 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:13832 patent ductus arteriosus ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:2843 long QT syndrome ISO RGD:735726 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Prolonged QT interval 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:289 endometriosis ISO RGD:735726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:3007 breast ductal carcinoma ISO RGD:735726 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735726 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:5844 myocardial infarction ISO RGD:735726 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Myocardial infarction PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:630 genetic disease ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31828977 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:7240710 20220323 OMIM 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:1575858|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:31575858|PMID:32622958|PMID:33500567|PMID:9536098 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9000184 Ventricular Fibrillation IEP D RGD:1598647|PMID:15115899 20061209 RGD 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:7240710 20140903 OMIM 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:17245405|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:32622958|PMID:33500567|PMID:9536098 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9003163 Heart Block ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9003816 Macrocephaly ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005077 Joint Instability ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005141 Ventricular Tachycardia IEP D RGD:1598647|PMID:15115899 20061209 RGD 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735726 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005616 Micrognathism ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:12792003|PMID:22257425 20170307 RGD mRNA, protein:decreased expression:heart 3787 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 3790 Semg1 semenogelin 1 gene DOID:2234 focal epilepsy ISO RGD:1349203 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 3790 Semg1 semenogelin 1 gene DOID:630 genetic disease ISO RGD:1349203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3790 Semg1 semenogelin 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1349203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 3794 Sycp1 synaptonemal complex protein 1 gene DOID:0080690 RASopathy ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3794 Sycp1 synaptonemal complex protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 3794 Sycp1 synaptonemal complex protein 1 gene DOID:10941 intracranial aneurysm ISO RGD:1347800 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial PMID:25741868|PMID:28492532 3794 Sycp1 synaptonemal complex protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1347800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 3794 Sycp1 synaptonemal complex protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 3794 Sycp1 synaptonemal complex protein 1 gene DOID:630 genetic disease ISO RGD:1347800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3795 Sycp3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:7240710 20130221 OMIM 3795 Sycp3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:14643120|PMID:19110213|PMID:28492532|PMID:28801929|PMID:29713536 3795 Sycp3 synaptonemal complex protein 3 gene DOID:0111910 spermatogenic failure ISO RGD:733070 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 3795 Sycp3 synaptonemal complex protein 3 gene DOID:12336 male infertility ISO RGD:733070 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Male infertility 3795 Sycp3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:733070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14643120 3795 Sycp3 synaptonemal complex protein 3 gene DOID:630 genetic disease ISO RGD:733070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3795 Sycp3 synaptonemal complex protein 3 gene DOID:9007479 Habitual Abortions ISO RGD:733070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19110213 3796 Syk spleen associated tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736160 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 3796 Syk spleen associated tyrosine kinase gene DOID:0060180 colitis ISO RGD:736160 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 3796 Syk spleen associated tyrosine kinase gene DOID:0060180 colitis ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:33782605 3796 Syk spleen associated tyrosine kinase gene DOID:1909 melanoma ISO RGD:736160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 3796 Syk spleen associated tyrosine kinase gene DOID:2723 dermatitis ISO RGD:736160 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 3796 Syk spleen associated tyrosine kinase gene DOID:2843 long QT syndrome ISO RGD:736160 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 3796 Syk spleen associated tyrosine kinase gene DOID:4780 anti-basement membrane glomerulonephritis IMP D RGD:6218988|PMID:21894146 20130304 RGD 3796 Syk spleen associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:736160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3796 Syk spleen associated tyrosine kinase gene DOID:848 arthritis ISO RGD:736160 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 3796 Syk spleen associated tyrosine kinase gene DOID:9003566 Mesothelioma ISO RGD:736160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 3796 Syk spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:7240710 20210707 OMIM 3796 Syk spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 82 with systemic inflammation PMID:25741868|PMID:28492532|PMID:33782605 3797 Syn1 synapsin I gene DOID:0060041 autism spectrum disorder ISO RGD:731422 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3797 Syn1 synapsin I gene DOID:0060041 autism spectrum disorder ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 3797 Syn1 synapsin I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731422 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3797 Syn1 synapsin I gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 3797 Syn1 synapsin I gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:731422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 PMID:25741868 3797 Syn1 synapsin I gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 3797 Syn1 synapsin I gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 3797 Syn1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:7240710 20190717 OMIM 3797 Syn1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 PMID:14985377|PMID:21441247|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973667|PMID:31969655|PMID:36568968|PMID:9415477 3797 Syn1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:7240710 20130221 OMIM 3797 Syn1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BATHING EPILEPSY, X-LINKED | ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:15071120|PMID:16199547|PMID:17576681|PMID:21441247|PMID:23406870|PMID:23871722|PMID:24691301|PMID:25741868|PMID:25741869|PMID:26173895|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28973667|PMID:30390306|PMID:31969655|PMID:32235935|PMID:34078716|PMID:34243774|PMID:36568968|PMID:9536098 3797 Syn1 synapsin I gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 3797 Syn1 synapsin I gene DOID:1059 intellectual disability ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:36568968 3797 Syn1 synapsin I gene DOID:12849 autistic disorder ISO RGD:731422 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3797 Syn1 synapsin I gene DOID:1470 major depressive disorder ISO RGD:731422 D RGD:6892958|PMID:22885997 20180523 RGD mRNA:decreased expression:dorsolateral prefrontal cortex 3797 Syn1 synapsin I gene DOID:1826 epilepsy ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:36568968 3797 Syn1 synapsin I gene DOID:630 genetic disease ISO RGD:731422 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15071120|PMID:25741868|PMID:26467025|PMID:28492532 3797 Syn1 synapsin I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 3797 Syn1 synapsin I gene DOID:9007692 Insulin Resistance IEP D RGD:13542091|PMID:29566703 20180508 RGD 3798 Syn2 synapsin II gene DOID:0060041 autism spectrum disorder ISS RGD:736268 D RGD:13592920 20190516 MouseDO 3798 Syn2 synapsin II gene DOID:0080600 COVID-19 ISO RGD:736267 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3798 Syn2 synapsin II gene DOID:1826 epilepsy ISS RGD:736268 D RGD:13592920 20180518 MouseDO 3798 Syn2 synapsin II gene DOID:5419 schizophrenia ISO RGD:736267 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3798 Syn2 synapsin II gene DOID:5419 schizophrenia ISO RGD:736267 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 3798 Syn2 synapsin II gene DOID:5419 schizophrenia susceptibility ISO RGD:736267 D RGD:7240710 20230505 OMIM 3798 Syn2 synapsin II gene DOID:630 genetic disease ISO RGD:736267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3798 Syn2 synapsin II gene DOID:9002211 Hyperalgesia ISO RGD:736267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 3799 Syn3 synapsin III gene DOID:0060041 autism spectrum disorder ISS RGD:736492 D RGD:13592920 20190516 MouseDO 3799 Syn3 synapsin III gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:736491 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 3799 Syn3 synapsin III gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 3799 Syn3 synapsin III gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 3799 Syn3 synapsin III gene DOID:630 genetic disease ISO RGD:736491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3799 Syn3 synapsin III gene DOID:8501 fundus dystrophy ISO RGD:736491 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085 3799 Syn3 synapsin III gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:736491 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 3801 Syngr1 synaptogyrin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3801 Syngr1 synaptogyrin 1 gene DOID:10283 prostate cancer ISO RGD:736639 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3801 Syngr1 synaptogyrin 1 gene DOID:5419 schizophrenia ISO RGD:736639 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 3801 Syngr1 synaptogyrin 1 gene DOID:630 genetic disease ISO RGD:736639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3801 Syngr1 synaptogyrin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 3801 Syngr1 synaptogyrin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 3802 Syp synaptophysin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737494 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 3802 Syp synaptophysin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737494 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 3802 Syp synaptophysin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 3802 Syp synaptophysin gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:737494 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 3802 Syp synaptophysin gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:737494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 3802 Syp synaptophysin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737494 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 3802 Syp synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:7240710 20130221 OMIM 3802 Syp synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 PMID:19377476|PMID:23966691|PMID:25741868 3802 Syp synaptophysin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 3802 Syp synaptophysin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 3802 Syp synaptophysin gene DOID:10652 Alzheimer's disease IEP D RGD:13506238|PMID:20847448 20180205 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex 3802 Syp synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:11373 D RGD:13506238|PMID:20847448 20180205 RGD denntate gyrus, hippocampus, entorhinal cortex 3802 Syp synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:737494 D RGD:13506238|PMID:20847448 20180205 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: 3802 Syp synaptophysin gene DOID:12849 autistic disorder ISO RGD:737494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3802 Syp synaptophysin gene DOID:3908 lung non-small cell carcinoma ISO RGD:737494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 3802 Syp synaptophysin gene DOID:5419 schizophrenia ISO RGD:737494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11483314 3802 Syp synaptophysin gene DOID:5463 cochlear disease ISO RGD:8768375 D RGD:9068941 20200609 RGD PMID:12429223|REF_RGD_ID:11554034 3802 Syp synaptophysin gene DOID:630 genetic disease ISO RGD:737494 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3802 Syp synaptophysin gene DOID:8927 learning disability ISO RGD:737494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 3802 Syp synaptophysin gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:737494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 3802 Syp synaptophysin gene DOID:9008023 Memory Disorders ISO RGD:737494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 3803 Syt1 synaptotagmin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:736944 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:30107533 3803 Syt1 synaptotagmin 1 gene DOID:11832 visual epilepsy IEP D RGD:730127|PMID:8872307 20150325 RGD 3803 Syt1 synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15456828|PMID:21338883|PMID:25705886|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 3803 Syt1 synaptotagmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SYT1-associated neurodevelopmental disorder PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 3803 Syt1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:7240710 20190315 OMIM 3803 Syt1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BAKER-GORDON SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 3804 Syt2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:7240710 20170329 OMIM 3804 Syt2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 7 PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919|PMID:30533528|PMID:31230720|PMID:32403337|PMID:33320396|PMID:34037996 3804 Syt2 synaptotagmin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 3804 Syt2 synaptotagmin 2 gene DOID:12377 spinal muscular atrophy ISO RGD:731270 D RGD:11535337|PMID:28173138 20211202 RGD protein:decreased expression:multiple (mouse) 3804 Syt2 synaptotagmin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735278 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3804 Syt2 synaptotagmin 2 gene DOID:3635 congenital myasthenic syndrome ISO RGD:735278 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3804 Syt2 synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:735278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919 3804 Syt2 synaptotagmin 2 gene DOID:7319 axonal neuropathy ISO RGD:735278 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 3804 Syt2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:7240710 20211027 OMIM 3804 Syt2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive PMID:25741868|PMID:28492532|PMID:32250532|PMID:32776697|PMID:33659639 3804 Syt2 synaptotagmin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3804 Syt2 synaptotagmin 2 gene DOID:9005532 Muscle Weakness ISO RGD:735278 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Muscle weakness 3804 Syt2 synaptotagmin 2 gene DOID:9006836 Contracture ISO RGD:735278 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 3804 Syt2 synaptotagmin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735278 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3805 Syt3 synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:736653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3806 Syt5 synaptotagmin 5 gene DOID:0110936 nemaline myopathy 5 ISO RGD:731962 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 3806 Syt5 synaptotagmin 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731962 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 3806 Syt5 synaptotagmin 5 gene DOID:630 genetic disease ISO RGD:731962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3807 Tac1 tachykinin, precursor 1 gene DOID:0060180 colitis IEP D RGD:2304260|PMID:18715640 20090311 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:0060500 drug allergy ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21233199 3807 Tac1 tachykinin, precursor 1 gene DOID:10124 corneal disease ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12824234 3807 Tac1 tachykinin, precursor 1 gene DOID:10914 amnestic disorder ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7562510|PMID:9521815|PMID:20600432 3807 Tac1 tachykinin, precursor 1 gene DOID:1205 allergic disease ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 3807 Tac1 tachykinin, precursor 1 gene DOID:1273 respiratory syncytial virus infectious disease IEP D RGD:5147822|PMID:10516226 20110822 RGD mRNA,protein:increased expression:lung 3807 Tac1 tachykinin, precursor 1 gene DOID:12783 migraine without aura ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11304026 3807 Tac1 tachykinin, precursor 1 gene DOID:1470 major depressive disorder ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 3807 Tac1 tachykinin, precursor 1 gene DOID:2841 asthma ISO RGD:619560 D RGD:5147836|PMID:11031342 20110823 RGD protein:increased expression:lung 3807 Tac1 tachykinin, precursor 1 gene DOID:3312 bipolar disorder ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 3807 Tac1 tachykinin, precursor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619560 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3807 Tac1 tachykinin, precursor 1 gene DOID:4989 pancreatitis ISO RGD:11379 D RGD:5147636|PMID:16369913 20110816 RGD mRNA:increased expression:lung, pancreas 3807 Tac1 tachykinin, precursor 1 gene DOID:5419 schizophrenia ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 3807 Tac1 tachykinin, precursor 1 gene DOID:630 genetic disease ISO RGD:619560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3807 Tac1 tachykinin, precursor 1 gene DOID:6432 pulmonary hypertension IMP D RGD:5147638|PMID:12662901 20110816 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20616304 3807 Tac1 tachykinin, precursor 1 gene DOID:8986 narcolepsy ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 3807 Tac1 tachykinin, precursor 1 gene DOID:9000197 Edema ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 3807 Tac1 tachykinin, precursor 1 gene DOID:9000641 Pain IDA D RGD:2304337|PMID:17493276 20090313 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:9000641 Pain ISO RGD:619560 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:7694222|PMID:10445233 3807 Tac1 tachykinin, precursor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16777450 3807 Tac1 tachykinin, precursor 1 gene DOID:9000784 Fibrosis ISO RGD:619560 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28647476 3807 Tac1 tachykinin, precursor 1 gene DOID:9001109 Anorexia ISO RGD:619560 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30336258 3807 Tac1 tachykinin, precursor 1 gene DOID:9001579 Neurogenic Inflammation IMP D RGD:2304321|PMID:18326823 20090313 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9291295|PMID:17257769|PMID:17961222|PMID:20138590|PMID:21570423 3807 Tac1 tachykinin, precursor 1 gene DOID:9002211 Hyperalgesia ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8864563|PMID:9714424|PMID:10499367|PMID:12351280|PMID:12787826|PMID:15626726|PMID:16259764|PMID:18234883|PMID:19231294 3807 Tac1 tachykinin, precursor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9259450 3807 Tac1 tachykinin, precursor 1 gene DOID:9003132 Sialorrhea ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8938667 3807 Tac1 tachykinin, precursor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11379 D RGD:5147812|PMID:19797759 20110822 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:9005236 Drug Eruptions ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1371395 3807 Tac1 tachykinin, precursor 1 gene DOID:9005372 Inflammation IEP D RGD:2304327|PMID:18053315 20090313 RGD protein:increased expression:neuron 3807 Tac1 tachykinin, precursor 1 gene DOID:9005372 Inflammation ISO RGD:619560 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:8880065|PMID:14499429|PMID:21294877|PMID:30116771 3807 Tac1 tachykinin, precursor 1 gene DOID:9005968 Neuralgia ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 3807 Tac1 tachykinin, precursor 1 gene DOID:9006024 Hypotension IMP D RGD:2304320|PMID:18337316 20090313 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:9006024 Hypotension ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2445440|PMID:20138590 3807 Tac1 tachykinin, precursor 1 gene DOID:9006202 Pruritus ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 3807 Tac1 tachykinin, precursor 1 gene DOID:9007001 Bradycardia IDA D RGD:2305984|PMID:2471579 20090316 RGD 3807 Tac1 tachykinin, precursor 1 gene DOID:9007001 Bradycardia ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2445440|PMID:8960879 3807 Tac1 tachykinin, precursor 1 gene DOID:9007730 Burns ISO RGD:11379 D RGD:5147812|PMID:19797759 20110822 RGD protein:increased expression:plasma, lung 3807 Tac1 tachykinin, precursor 1 gene DOID:9008385 Vomiting ISO RGD:619560 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31738934 3807 Tac1 tachykinin, precursor 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8938667|PMID:9622145 3807 Tac1 tachykinin, precursor 1 gene DOID:9009039 Hyperemia ISO RGD:619560 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7507874|PMID:10564113 3807 Tac1 tachykinin, precursor 1 gene DOID:9220 central sleep apnea IMP D RGD:2304275|PMID:18420958 20090312 RGD 3809 Tac3 tachykinin precursor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353248 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3809 Tac3 tachykinin precursor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353248 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 3809 Tac3 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:7240710 20140903 OMIM 3809 Tac3 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia PMID:19079066|PMID:20332248 3809 Tac3 tachykinin precursor 3 gene DOID:10763 hypertension IEP D RGD:2305983|PMID:2478257 20090316 RGD protein:increased expression:supraoptic nucleus, medulla oblongata 3809 Tac3 tachykinin precursor 3 gene DOID:1924 hypogonadism ISO RGD:1353248 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 3809 Tac3 tachykinin precursor 3 gene DOID:5223 infertility ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:25636053|PMID:28492532|PMID:29419413 3809 Tac3 tachykinin precursor 3 gene DOID:630 genetic disease ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3809 Tac3 tachykinin precursor 3 gene DOID:9001239 Delayed Puberty ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532|PMID:29419413 3810 Tacr3 tachykinin receptor 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 3810 Tacr3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:7240710 20140903 OMIM 3810 Tacr3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia PMID:18422838|PMID:19079066|PMID:20194706|PMID:20332248|PMID:21300340|PMID:22031817|PMID:22035731|PMID:23329188|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33363893 3810 Tacr3 tachykinin receptor 3 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:735782 D RGD:8554872 20170502 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency 3810 Tacr3 tachykinin receptor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:735782 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 3810 Tacr3 tachykinin receptor 3 gene DOID:10763 hypertension IDA D RGD:2305984|PMID:2471579 20090316 RGD 3810 Tacr3 tachykinin receptor 3 gene DOID:11832 visual epilepsy IEP D RGD:2305980|PMID:7898759 20090316 RGD mRNA:altered expression:brain 3810 Tacr3 tachykinin receptor 3 gene DOID:13938 amenorrhea ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 3810 Tacr3 tachykinin receptor 3 gene DOID:1574 alcohol use disorder ISO RGD:735782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 3810 Tacr3 tachykinin receptor 3 gene DOID:1921 Klinefelter syndrome ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 3810 Tacr3 tachykinin receptor 3 gene DOID:1924 hypogonadism ISO RGD:735782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 3810 Tacr3 tachykinin receptor 3 gene DOID:3633 beta-mannosidosis ISO RGD:735782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 3810 Tacr3 tachykinin receptor 3 gene DOID:630 genetic disease ISO RGD:735782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3810 Tacr3 tachykinin receptor 3 gene DOID:9000641 Pain IMP D RGD:2304256|PMID:19093101 20090311 RGD 3810 Tacr3 tachykinin receptor 3 gene DOID:9001239 Delayed Puberty ISO RGD:735782 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 3810 Tacr3 tachykinin receptor 3 gene DOID:9005372 Inflammation IEP D RGD:2305951|PMID:10891623 20090316 RGD mRNA:increased expression:spinal cord 3810 Tacr3 tachykinin receptor 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 3810 Tacr3 tachykinin receptor 3 gene DOID:9006024 Hypotension IMP D RGD:2305929|PMID:18650316 20090316 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7692360 3811 Tacr1 tachykinin receptor 1 gene DOID:0060180 colitis IEP D RGD:2304260|PMID:18715640 20090311 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:731008 D RGD:5147837|PMID:8630576 20110823 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:5147821|PMID:12857498 20110822 RGD mRNA,protein:increased expression:lung 3811 Tacr1 tachykinin receptor 1 gene DOID:10763 hypertension ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21294877 3811 Tacr1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 3811 Tacr1 tachykinin receptor 1 gene DOID:11396 pulmonary edema ISO RGD:731009 D RGD:5147816|PMID:19633070 20110822 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:1176 bronchial disease ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 3811 Tacr1 tachykinin receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease treatment IEP D RGD:5147822|PMID:10516226 20150819 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 3811 Tacr1 tachykinin receptor 1 gene DOID:1679 cystitis IMP D RGD:2304340|PMID:17382773 20090313 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:2841 asthma IEP D RGD:2304339|PMID:17392578 20090313 RGD protein:increased expression:lung 3811 Tacr1 tachykinin receptor 1 gene DOID:2841 asthma IEP D RGD:5147475|PMID:16409782 20110805 RGD mRNA,protein:increased expression:lung 3811 Tacr1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:731008 D RGD:5147645|PMID:8240667 20110816 RGD mRNA:increased expression:lung 3811 Tacr1 tachykinin receptor 1 gene DOID:3312 bipolar disorder ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 3811 Tacr1 tachykinin receptor 1 gene DOID:4481 allergic rhinitis IEP D RGD:5147835|PMID:12768696 20110823 RGD mRNA:increased expression:nasal mucosa 3811 Tacr1 tachykinin receptor 1 gene DOID:4989 pancreatitis IMP D RGD:2304266|PMID:18580444 20090312 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:731009 D RGD:5147636|PMID:16369913 20110816 RGD mRNA, protein:increased expression:lung, pancreas 3811 Tacr1 tachykinin receptor 1 gene DOID:630 genetic disease ISO RGD:731008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3811 Tacr1 tachykinin receptor 1 gene DOID:6432 pulmonary hypertension IMP D RGD:5147638|PMID:12662901 20110816 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2304258|PMID:18945947 20090311 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000310 Lung Injury ISO RGD:731009 D RGD:5147820|PMID:17565047 20110822 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage IMP D RGD:1626451|PMID:17542534 20090313 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000641 Pain IMP D RGD:2304276|PMID:18407414 20090312 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity IMP D RGD:5147833|PMID:18063836 20110823 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731009 D RGD:5147834|PMID:15272104 20110823 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9000945 Ventilator-Induced Lung Injury IMP D RGD:5147811|PMID:20176632 20110822 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation IMP D RGD:2304321|PMID:18326823 20090313 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:21570423 3811 Tacr1 tachykinin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964684|PMID:17123731 3811 Tacr1 tachykinin receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:731009 D RGD:5147819|PMID:18523300 20110822 RGD mRNA:increased expression:lung 3811 Tacr1 tachykinin receptor 1 gene DOID:9004657 Weight Gain ISO RGD:731009 D RGD:5147668|PMID:21467195 20110817 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9005372 Inflammation IMP D RGD:2304327|PMID:18053315 20090313 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9006024 Hypotension IDA D RGD:2304250|PMID:19261870 20090311 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9006024 Hypotension IMP D RGD:2304320|PMID:18337316 20090313 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9007001 Bradycardia ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9696263 3811 Tacr1 tachykinin receptor 1 gene DOID:9007480 Hyperoxia ISO RGD:731009 D RGD:5147816|PMID:19633070 20110822 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9007730 Burns ISO RGD:731009 D RGD:5147819|PMID:18523300 20110822 RGD mRNA:increased expression:lung 3811 Tacr1 tachykinin receptor 1 gene DOID:9008385 Vomiting ISO RGD:731008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15680276 3811 Tacr1 tachykinin receptor 1 gene DOID:9220 central sleep apnea IMP D RGD:2304275|PMID:18420958 20090312 RGD 3811 Tacr1 tachykinin receptor 1 gene DOID:9675 pulmonary emphysema ISO RGD:731009 D RGD:5147818|PMID:19445658 20110822 RGD 3812 Tacr2 tachykinin receptor 2 gene DOID:0060180 colitis IEP D RGD:2304260|PMID:18715640 20090311 RGD 3812 Tacr2 tachykinin receptor 2 gene DOID:0060180 colitis IMP D RGD:5147478|PMID:12490601 20110805 RGD 3812 Tacr2 tachykinin receptor 2 gene DOID:1176 bronchial disease ISO RGD:736836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 3812 Tacr2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:5147640|PMID:20175803 20110816 RGD DNA:SNP:cds:p.G231E (human) 3812 Tacr2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:5147641|PMID:19880429 20110816 RGD 3812 Tacr2 tachykinin receptor 2 gene DOID:630 genetic disease ISO RGD:736836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3812 Tacr2 tachykinin receptor 2 gene DOID:6432 pulmonary hypertension IMP D RGD:5147638|PMID:12662901 20110816 RGD 3812 Tacr2 tachykinin receptor 2 gene DOID:9005219 Abnormal Reflexes IMP D RGD:5147480|PMID:11342967 20110808 RGD 3812 Tacr2 tachykinin receptor 2 gene DOID:9007073 Cough susceptibility ISO RGD:736836 D RGD:5147627|PMID:19583679 20110816 RGD DNA:SNP:cds:p.G231E (human) 3813 Pvr PVR cell adhesion molecule gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:736513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 3813 Pvr PVR cell adhesion molecule gene DOID:0080395 orofacial cleft 1 ISO RGD:736513 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 3813 Pvr PVR cell adhesion molecule gene DOID:4953 poliomyelitis ISO RGD:736513 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:3020560|PMID:28446605 3813 Pvr PVR cell adhesion molecule gene DOID:630 genetic disease ISO RGD:736513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3813 Pvr PVR cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:736513 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 3813 Pvr PVR cell adhesion molecule gene DOID:9119 acute myeloid leukemia ISO RGD:736513 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:29855615 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:0050553 JMP syndrome ISO RGD:736475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:7240710 20130221 OMIM 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency PMID:10074494|PMID:10074495|PMID:1570316|PMID:16299152|PMID:16624613|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3891604|PMID:8640228|PMID:9536098 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:736475 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736475 D RGD:6482266|PMID:15887980 20120423 RGD DNA:SNPs: :p. I333V, D637G (human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:1205 allergic disease ISO RGD:736475 D RGD:8548785|PMID:11591192 20140319 RGD DNA:polymorphism, haplotype: :p.V333I (human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:736475 D RGD:1578361|PMID:16112028 20120424 RGD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:2841 asthma susceptibility ISO RGD:736475 D RGD:5147845|PMID:12640628 20110825 RGD DNA:polymorphism: : 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis ISO RGD:736475 D RGD:6482248|PMID:21843574 20120420 RGD associated with HIV Infections; 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:3393 coronary artery disease ISO RGD:736475 D RGD:1331525|PMID:15118671 19990101 GAD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736475 D RGD:6482249|PMID:19492245 20120420 RGD protein:decreased expression:esophagus 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:736475 D RGD:6482260|PMID:18248301 20120423 RGD DNA:SNPs: : 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:736475 D RGD:6482272|PMID:12648582 20120423 RGD DNA:SNPs: : 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis no_association ISO RGD:736475 D RGD:6482274|PMID:12018331 20120423 RGD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis susceptibility ISO RGD:736475 D RGD:6482262|PMID:17982230 20120423 RGD DNA:SNPs: : 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:5419 schizophrenia ISO RGD:736475 D RGD:6482251|PMID:19217216 20120420 RGD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:736475 D RGD:6482278|PMID:7748224 20120423 RGD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:736475 D RGD:6482250|PMID:19480848 20120420 RGD DNA:SNPs: : 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:841 extrinsic allergic alveolitis susceptibility ISO RGD:736475 D RGD:5147840|PMID:18342853 20110825 RGD DNA:polymorphisms:cds:P. D637G, P661P (human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:736475 D RGD:8548788|PMID:11194890 20140319 RGD DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002304 Prostatic Neoplasms ISO RGD:736475 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:736475 D RGD:5147844|PMID:14976605 20110825 RGD DNA:polymorphism:cds:p.D637G(human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007102 Myocardial Ischemia ISO RGD:736475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:736475 D RGD:5147846|PMID:10618282 20110825 RGD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9008163 Chronic Hepatitis B ISO RGD:736475 D RGD:6482248|PMID:21843574 20120420 RGD mRNA:decreased expression:blood 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736475 D RGD:6482277|PMID:9014588 20120423 RGD 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9563 bronchiectasis susceptibility ISO RGD:736475 D RGD:5147842|PMID:17245734 20110825 RGD DNA:polymorphisms:cds:p. I333V, D637G (human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:11387 D RGD:2312370|PMID:9300732 20090810 RGD DNA:mutation:promoter (mouse) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:2312369|PMID:9458110 20090810 RGD DNA:insertion:intron (human) 3817 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:2312371|PMID:9129974 20090810 RGD DNA:polymorphisms (human) 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0050553 JMP syndrome ISO RGD:1348865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:7240710 20130221 OMIM 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency PMID:10560675|PMID:11529920|PMID:12067308|PMID:1570316|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532|PMID:7517574|PMID:9536098 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1348865 D RGD:1601413|PMID:10560675 20070419 RGD DNA:nonsense mutation 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1348865 D RGD:5147839|PMID:21796142 20110825 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1025 tuberculoid leprosy susceptibility ISO RGD:1348865 D RGD:5147851|PMID:9062973 20110825 RGD DNA:polymorphism: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:1348865 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348865 D RGD:6482265|PMID:16595160 20120423 RGD DNA:SNP: :(rs241448)(human) 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1348865 D RGD:6482261|PMID:18071882 20120423 RGD DNA:SNPs: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1577 limited scleroderma susceptibility ISO RGD:1348865 D RGD:1578361|PMID:16112028 20120424 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348865 D RGD:1578361|PMID:16112028 20120424 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis ISO RGD:1348865 D RGD:6482280|PMID:7928442 20120424 RGD DNA:SNPs:CDs:p.V379I, A565T(human) 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis no_association ISO RGD:1348865 D RGD:6482281|PMID:7797617 20120424 RGD DNA:SNPs:CDs:p.V379I, A565T(human) 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348865 D RGD:6482279|PMID:7759306 20120424 RGD DNA:synonymous mutation: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2893 cervix carcinoma susceptibility ISO RGD:1348865 D RGD:6482264|PMID:17366619 20120423 RGD DNA:SNP: :(rs4148876)(human) 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348865 D RGD:5147851|PMID:9062973 20110825 RGD DNA:polymorphism: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1348865 D RGD:6482276|PMID:9303338 20120423 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348865 D RGD:6482249|PMID:19492245 20120420 RGD protein:decreased expression:esophagus 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:1348865 D RGD:6482260|PMID:18248301 20120423 RGD DNA:SNPs: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:1348865 D RGD:6482272|PMID:12648582 20120423 RGD DNA:SNPs: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:1348865 D RGD:6482278|PMID:7748224 20120423 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:1348865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:1348865 D RGD:6482250|PMID:19480848 20120420 RGD DNA:SNPs: : 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:7148 rheumatoid arthritis ISO RGD:1348865 D RGD:6482275|PMID:9645419 20120423 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:1348865 D RGD:6482263|PMID:17581627 20120423 RGD DNA:SNPs:CDs:p.T665A, Q687Q(human) 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1348865 D RGD:5147847|PMID:10323341 20110825 RGD DNA:polymorphisms:exon: 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348865 D RGD:6482277|PMID:9014588 20120423 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1348865 D RGD:6482273|PMID:12634240 20120423 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:2312368|PMID:17192492 20090810 RGD 3818 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:2312373|PMID:1300236 20090810 RGD 3819 Tapbp TAP binding protein gene DOID:0050553 JMP syndrome ISO RGD:735382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3819 Tapbp TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:7240710 20130221 OMIM 3819 Tapbp TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:12149238|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 3819 Tapbp TAP binding protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735382 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 3819 Tapbp TAP binding protein gene DOID:627 severe combined immunodeficiency ISO RGD:735382 D RGD:1599296|PMID:12149238 20070129 RGD type I bare lymphocyte syndrome, OMIM:604571 3819 Tapbp TAP binding protein gene DOID:630 genetic disease ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3820 Tat tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:7240710 20180214 OMIM 3820 Tat tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tyrosinemia type II PMID:1357662|PMID:16199547|PMID:16917729|PMID:17576681|PMID:18577048|PMID:21145993|PMID:25741868|PMID:25784227|PMID:27285949|PMID:27832414|PMID:28255985|PMID:28492532|PMID:31737040|PMID:9536098|PMID:9544843 3820 Tat tyrosine aminotransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 3820 Tat tyrosine aminotransferase gene DOID:10907 microcephaly ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 3820 Tat tyrosine aminotransferase gene DOID:630 genetic disease ISO RGD:736963 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3820 Tat tyrosine aminotransferase gene DOID:9275 tyrosinemia ISO RGD:736963 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism 3820 Tat tyrosine aminotransferase gene DOID:9275 tyrosinemia ISO RGD:736963 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 3820 Tat tyrosine aminotransferase gene DOID:9275 tyrosinemia susceptibility ISO RGD:736963 D RGD:1600125|PMID:1357662 20070228 RGD DNA:point mutations 3821 Cntn2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:7240710 20140911 OMIM 3821 Cntn2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:11178983|PMID:16199547|PMID:17576681|PMID:23518707|PMID:25741868|PMID:28492532|PMID:9536098 3821 Cntn2 contactin 2 gene DOID:12849 autistic disorder ISO RGD:734311 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3821 Cntn2 contactin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:734311 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3821 Cntn2 contactin 2 gene DOID:1826 epilepsy ISO RGD:734311 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 3821 Cntn2 contactin 2 gene DOID:3070 high grade glioma severity ISO RGD:734311 D RGD:734799|PMID:11280781 19990101 RGD mRNA, protein:increased expression:brain (human) 3821 Cntn2 contactin 2 gene DOID:5602 T-cell adult acute lymphocytic leukemia ISS RGD:11392 D RGD:13592920 20180518 MouseDO 3821 Cntn2 contactin 2 gene DOID:630 genetic disease ISO RGD:734311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3821 Cntn2 contactin 2 gene DOID:850 lung disease ISO RGD:734311 D RGD:36947872|PMID:24292748 20200805 RGD associated with HTLV-I Infections;mRNA:increased expression:bronchoalveolar lavage: 3821 Cntn2 contactin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734311 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3821 Cntn2 contactin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734311 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3825 Tbxa2r thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 3825 Tbxa2r thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735834 D RGD:11059537|PMID:15898979 20160415 RGD DNA:polymorphism: :795T>C (human) 3825 Tbxa2r thromboxane A2 receptor gene DOID:1074 kidney failure treatment IMP D RGD:11059601|PMID:9893136 20160418 RGD associated with Cholestasis; 3825 Tbxa2r thromboxane A2 receptor gene DOID:11394 adult respiratory distress syndrome treatment IMP D RGD:11059533|PMID:1934328 20160415 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:14115 toxic shock syndrome treatment IMP D RGD:11059599|PMID:7816742 20160418 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:1588 thrombocytopenia IMP D RGD:11059527|PMID:2528013 20160415 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:2213 hemorrhagic disease ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19828703 3825 Tbxa2r thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7929844|PMID:19828703 3825 Tbxa2r thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:1578439|PMID:7929844 20160415 RGD DNA:mutation:cds:p.R60L(human) 3825 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma ISO RGD:735834 D RGD:1331525|PMID:15118671 19990101 GAD 3825 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma ISO RGD:735834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asthma PMID:2955539|PMID:7929844|PMID:8428006|PMID:8613548 3825 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma severity ISO RGD:735834 D RGD:11059534|PMID:15805995 20160415 RGD DNA:polymorphism:cds:924T>C(human) 3825 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma susceptibility ISO RGD:735834 D RGD:11059535|PMID:12000493 20160415 RGD DNA:polymorphism:cds:924T>C(human) 3825 Tbxa2r thromboxane A2 receptor gene DOID:4483 rhinitis ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 3825 Tbxa2r thromboxane A2 receptor gene DOID:630 genetic disease ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3825 Tbxa2r thromboxane A2 receptor gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:735834 D RGD:11059532|PMID:15247523 20160415 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9003871 Venous Thrombosis treatment IMP D RGD:11059887|PMID:7848332 20160418 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9004283 Transplant Rejection IMP D RGD:11059606|PMID:7964472 20160418 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735834 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:733229 D RGD:11059528|PMID:9835625 20160415 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:735834 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to PMID:19828703|PMID:22517902|PMID:25741868|PMID:28492532|PMID:2955539|PMID:31064749|PMID:7929844|PMID:8428006|PMID:8613548 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 susceptibility ISO RGD:735834 D RGD:7240710 20190502 OMIM 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005749 Necrosis ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005930 Endotoxemia IDA D RGD:1601450|PMID:15647606 20070420 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9005930 Endotoxemia IMP D RGD:11059531|PMID:2580129 20160415 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9006263 Experimental Pancreatitis treatment IMP D RGD:11059600|PMID:11341608 20160418 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 3825 Tbxa2r thromboxane A2 receptor gene DOID:9477 pulmonary embolism ISO RGD:735834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7740511 3825 Tbxa2r thromboxane A2 receptor gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:733229 D RGD:11059529|PMID:22802632 20160415 RGD 3825 Tbxa2r thromboxane A2 receptor gene DOID:9970 obesity ISO RGD:733229 D RGD:1601447|PMID:12409963 20070420 RGD mRNA:increased expression:carotid artery 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0060500 drug allergy ISO RGD:736923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21449675 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0060903 thrombosis IDA D RGD:1601457|PMID:12384182 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0080690 RASopathy ISO RGD:736923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0080998 acute necrotizing pancreatitis IDA D RGD:1601470|PMID:9700944 20070423 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0111047 platelet-type bleeding disorder 14 ISO RGD:736923 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 PMID:25741868|PMID:28492532 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:18264100 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:7240710 20130221 OMIM 3826 Tbxas1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome PMID:17203301|PMID:18264100|PMID:22735388|PMID:25741868|PMID:27156553|PMID:28492532|PMID:33185009|PMID:33595912|PMID:8702713 3826 Tbxas1 thromboxane A synthase 1 gene DOID:10763 hypertension IDA D RGD:1601439|PMID:16192456 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:10763 hypertension IDA D RGD:1601472|PMID:9370383 20070423 RGD associated with hyperinsulinism 3826 Tbxas1 thromboxane A synthase 1 gene DOID:10976 membranous glomerulonephritis IDA D RGD:1601473|PMID:8982653 20070423 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:11111 hydronephrosis IEP D RGD:634088|PMID:9261862 20070423 RGD mRNA:increased expression:kidney 3826 Tbxas1 thromboxane A synthase 1 gene DOID:2213 hemorrhagic disease ISO RGD:736923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 3826 Tbxas1 thromboxane A synthase 1 gene DOID:2349 arteriosclerosis IDA D RGD:1601459|PMID:11331452 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:2921 glomerulonephritis IDA D RGD:1601461|PMID:10560941 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:3454 brain infarction IDA D RGD:1601455|PMID:14650360 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:736923 D RGD:11059536|PMID:19403042 20160415 RGD DNA:polymorphisms: : 3826 Tbxas1 thromboxane A synthase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736923 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3826 Tbxas1 thromboxane A synthase 1 gene DOID:630 genetic disease ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3826 Tbxas1 thromboxane A synthase 1 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:11059607|PMID:9262373 20160418 RGD mRNA,protein:increased expression:liver, Kupffer cell: 3826 Tbxas1 thromboxane A synthase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 3826 Tbxas1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury IDA D RGD:1601451|PMID:15000260 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury IDA D RGD:1601475|PMID:8680115 20070423 RGD associated with Cholestasis, Extrahepatic 3826 Tbxas1 thromboxane A synthase 1 gene DOID:9005930 Endotoxemia IDA D RGD:1601450|PMID:15647606 20070420 RGD 3826 Tbxas1 thromboxane A synthase 1 gene DOID:9477 pulmonary embolism IDA D RGD:1601456|PMID:12639842 20070420 RGD 3827 Eloa elongin A gene DOID:630 genetic disease ISO RGD:736026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3827 Eloa elongin A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 3828 Hnf1a HNF1 homeobox A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:23771925|PMID:25741868|PMID:28492532|PMID:31517624|PMID:32395877|PMID:35328643|PMID:35673428 3828 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:150540303|PMID:23674172 20211231 RGD DNA:polymorphism: : (human) 3828 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11942313|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23771925|PMID:24014008|PMID:24033266|PMID:24097065|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26981542|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28166811|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:29207974|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32238361|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9754819 3828 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:27967291|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026 3828 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819|PMID:9867222 3828 Hnf1a HNF1 homeobox A gene DOID:0050788 proximal symphalangism ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 3828 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma exacerbates ISO RGD:737153 D RGD:150530291|PMID:17663417 20211207 RGD DNA:mutation: (human) 3828 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility IAGP D RGD:14700683|PMID:12355088 20190809 RGD DNA:loss of heterozygosity, mutations:multiple 3828 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility IAGP D RGD:14700774|PMID:14598263 20190814 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) 3828 Hnf1a HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:7240710 20130425 OMIM 3828 Hnf1a HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10754480|PMID:11058894|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12453420|PMID:12453976|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:14747304|PMID:15114102|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16930618|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19150152|PMID:21051477|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21823540|PMID:22808921|PMID:23348805|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23803251|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:25935773|PMID:26431509|PMID:26467025|PMID:26479152|PMID:27899486|PMID:28012402|PMID:28170077|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29207974|PMID:29417725|PMID:29439679|PMID:30293189|PMID:30814848|PMID:31483937|PMID:31517624|PMID:32395877|PMID:32741144|PMID:32910913|PMID:34373539|PMID:34496959|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 3828 Hnf1a HNF1 homeobox A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:11058894|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 3828 Hnf1a HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29753610 3828 Hnf1a HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:7240710 20130221 OMIM 3828 Hnf1a HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10027593|PMID:10027594|PMID:10078571|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10649494|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11692182|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16834925|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17576681|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23771925|PMID:23803251|PMID:23869231|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27458973|PMID:27486234|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35299962|PMID:35328643|PMID:35535697|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9536098|PMID:9562352|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819 3828 Hnf1a HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:7240710 20190313 OMIM 3828 Hnf1a HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic adenomas, familial PMID:10333057|PMID:10447526|PMID:10754480|PMID:11058894|PMID:11315851|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:21051477|PMID:21628466|PMID:23348805|PMID:23551881|PMID:23607861|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 3828 Hnf1a HNF1 homeobox A gene DOID:10603 glucose intolerance susceptibility ISO RGD:737153 D RGD:1601481|PMID:15277395 20070423 RGD DNA:polymorphism: :p.A98V 3828 Hnf1a HNF1 homeobox A gene DOID:11714 gestational diabetes ISO RGD:737153 D RGD:2301873|PMID:16752173 20081105 RGD DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048) (human) 3828 Hnf1a HNF1 homeobox A gene DOID:11714 gestational diabetes ISO RGD:737153 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 3828 Hnf1a HNF1 homeobox A gene DOID:13619 extrahepatic cholestasis IEP D RGD:14700989|PMID:15723437 20191008 RGD mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) 3828 Hnf1a HNF1 homeobox A gene DOID:2394 ovarian cancer ISO RGD:737153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10333057|PMID:10588527|PMID:10634407|PMID:11289470|PMID:12359128|PMID:12574234|PMID:12618559|PMID:12675668|PMID:15277395|PMID:15761192|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17116178|PMID:17192490|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:18332101|PMID:18414213|PMID:18513305|PMID:23348805|PMID:24728327|PMID:25575005|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29895593|PMID:31109344|PMID:32238361|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053 3828 Hnf1a HNF1 homeobox A gene DOID:3459 breast carcinoma ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 3828 Hnf1a HNF1 homeobox A gene DOID:4195 hyperglycemia ISO RGD:737153 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29753610 3828 Hnf1a HNF1 homeobox A gene DOID:4450 renal cell carcinoma ISO RGD:737153 D RGD:7240710 20130221 OMIM 3828 Hnf1a HNF1 homeobox A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10333057|PMID:10447526|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11315851|PMID:11393552|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19169489|PMID:19929997|PMID:21051477|PMID:21628466|PMID:21696527|PMID:22348187|PMID:22432108|PMID:23348805|PMID:23551881|PMID:23607861|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:31365591|PMID:31576961|PMID:31638168|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9392505|PMID:9439666|PMID:9754819 3828 Hnf1a HNF1 homeobox A gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:737153 D RGD:150540316|PMID:15649945 20211231 RGD RNA:decreased expression:kidney (human) 3828 Hnf1a HNF1 homeobox A gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:10966642|PMID:11393552|PMID:15649945|PMID:17573900|PMID:19169489|PMID:19929997|PMID:21696527|PMID:22348187|PMID:22432108|PMID:24097065|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:31365591|PMID:31576961|PMID:31638168|PMID:9392505|PMID:9754819 3828 Hnf1a HNF1 homeobox A gene DOID:5524 adenoid squamous cell carcinoma ISO RGD:11397 D RGD:150540314|PMID:10489374 20211231 RGD 3828 Hnf1a HNF1 homeobox A gene DOID:557 kidney disease IEP D RGD:2301829|PMID:18443232 20081103 RGD associated with Hypertension 3828 Hnf1a HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment IMP D RGD:14700664|PMID:29466992 20190809 RGD human cell line in mouse model 3828 Hnf1a HNF1 homeobox A gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:737153 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 3828 Hnf1a HNF1 homeobox A gene DOID:9000528 Coronary Disease ISO RGD:737153 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 3828 Hnf1a HNF1 homeobox A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 3828 Hnf1a HNF1 homeobox A gene DOID:9005369 Hepatomegaly IMP D RGD:14700773|PMID:28394260 20190814 RGD 3828 Hnf1a HNF1 homeobox A gene DOID:9007692 Insulin Resistance ISO RGD:737153 D RGD:1601482|PMID:15094374 20070423 RGD mRNA:decreased expression:adipocyte 3828 Hnf1a HNF1 homeobox A gene DOID:9007692 Insulin Resistance ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15761192|PMID:15928245|PMID:16963153|PMID:17033837|PMID:17192490|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18332101|PMID:18498634|PMID:18811724|PMID:20031592|PMID:24728327|PMID:24933231|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31109344|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9287053|PMID:9604876 3828 Hnf1a HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility IEP D RGD:14700772|PMID:26857093 20190814 RGD protein:decreased expression:liver (mouse) 3828 Hnf1a HNF1 homeobox A gene DOID:9256 colorectal cancer ISO RGD:737153 D RGD:150540315|PMID:27433921 20211231 RGD RNA:increased expression:colon (human) 3828 Hnf1a HNF1 homeobox A gene DOID:9256 colorectal cancer treatment ISO RGD:737153 D RGD:150540313|PMID:29066969 20211231 RGD DNA:SNPs:multiple (human) 3828 Hnf1a HNF1 homeobox A gene DOID:9281 phenylketonuria ISS RGD:11397 D RGD:13592920 20180518 MouseDO OMIM:261600 3828 Hnf1a HNF1 homeobox A gene DOID:9351 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17116178|PMID:17192490|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20132997|PMID:20393147|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26997508|PMID:27083284|PMID:27148439|PMID:27229139|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29493090|PMID:29666556|PMID:29758564|PMID:29777474|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30561130|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31658956|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32684311|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34741762|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819|PMID:9867222 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:2301828|PMID:17828387 20081103 RGD DNA:deletions:exon:multiple 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:7240710 20130221 OMIM 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084598|PMID:10333057|PMID:10588527|PMID:10634407|PMID:10843190|PMID:10852449|PMID:11058894|PMID:11904371|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19672314|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737153 D RGD:2301827|PMID:18003757 20081103 RGD DNA:nonsense mutations, missense mutations: :multiple 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:1601479|PMID:8945470 20070423 RGD Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple 3828 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:2301863|PMID:18332101 20081105 RGD DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) (human) 3828 Hnf1a HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:7240710 20130221 OMIM 3828 Hnf1a HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10588527|PMID:10690959|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11719843|PMID:11938027|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12359128|PMID:12453420|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12832318|PMID:14747304|PMID:15649945|PMID:15657605|PMID:15883474|PMID:15928245|PMID:16274290|PMID:16562587|PMID:16917892|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:18838325|PMID:19169489|PMID:19754856|PMID:19929997|PMID:20393147|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21628466|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23771925|PMID:23869231|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25741868|PMID:25887915|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27899486|PMID:27913849|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29927023|PMID:30155490|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30814848|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31485449|PMID:31517624|PMID:31576961|PMID:31638168|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33477506|PMID:34161864|PMID:34373539|PMID:34496959|PMID:34741762|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9112026|PMID:9166684|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9727913|PMID:9754819 3828 Hnf1a HNF1 homeobox A gene DOID:9993 hypoglycemia ISO RGD:737153 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15787664 3829 Tcf12 transcription factor 12 gene DOID:2340 craniosynostosis ISO RGD:731955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354436 3829 Tcf12 transcription factor 12 gene DOID:2717 Bloom syndrome ISO RGD:731955 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3829 Tcf12 transcription factor 12 gene DOID:3614 Kallmann syndrome ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868|PMID:32629054 3829 Tcf12 transcription factor 12 gene DOID:630 genetic disease ISO RGD:731955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31754721 3829 Tcf12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:7240710 20220202 OMIM 3829 Tcf12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia PMID:23354436|PMID:25741868|PMID:28492532|PMID:32620954 3829 Tcf12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:7240710 20140911 OMIM 3829 Tcf12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 PMID:23354436|PMID:24736737|PMID:25271085|PMID:25741868|PMID:28492532|PMID:28808027|PMID:29215649|PMID:30038786|PMID:32620954|PMID:34906502 3829 Tcf12 transcription factor 12 gene DOID:9008086 Developmental Disabilities ISO RGD:731955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:36937954 3829 Tcf12 transcription factor 12 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30038786|PMID:31837199 3829 Tcf12 transcription factor 12 gene DOID:9008582 Developmental Disease ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 3829 Tcf12 transcription factor 12 gene DOID:9256 colorectal cancer ISO RGD:731955 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3830 Hnf1b HNF1 homeobox B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12161522|PMID:15930087|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:21380624|PMID:21775974|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31498910|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443|PMID:33851123 3830 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:28274157|PMID:28492532|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33532864 3830 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 3830 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 3830 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 3830 Hnf1b HNF1 homeobox B gene DOID:0050770 polycystic liver disease ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 3830 Hnf1b HNF1 homeobox B gene DOID:0060041 autism spectrum disorder ISO RGD:69136 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 3830 Hnf1b HNF1 homeobox B gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:12161522|PMID:17878605|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:33532864 3830 Hnf1b HNF1 homeobox B gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 3830 Hnf1b HNF1 homeobox B gene DOID:0080205 CAKUT ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:15930087|PMID:16249435|PMID:16371430|PMID:17116179|PMID:18249217|PMID:18644064|PMID:20155289|PMID:21380624|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24429398|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:30143558|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443 3830 Hnf1b HNF1 homeobox B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21380624|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123 3830 Hnf1b HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:7240710 20130221 OMIM 3830 Hnf1b HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:10484768|PMID:10672455|PMID:10720943|PMID:10758154|PMID:10868855|PMID:11085914|PMID:11317673|PMID:11562418|PMID:11845237|PMID:11845238|PMID:11918730|PMID:12148114|PMID:12161522|PMID:12460054|PMID:12478351|PMID:12675839|PMID:14583183|PMID:15001636|PMID:15068978|PMID:15085338|PMID:15168014|PMID:15181075|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16199547|PMID:16249435|PMID:16371430|PMID:16801329|PMID:16971658|PMID:17116179|PMID:17267738|PMID:17337496|PMID:17440011|PMID:17878605|PMID:17924661|PMID:18065799|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19228875|PMID:19346182|PMID:19389850|PMID:19639018|PMID:20155289|PMID:20378641|PMID:20543213|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21617276|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22060211|PMID:22114815|PMID:22432796|PMID:22641569|PMID:22706971|PMID:23520208|PMID:23539225|PMID:23926411|PMID:23979948|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24382792|PMID:24387224|PMID:24429398|PMID:24476040|PMID:24698406|PMID:24897035|PMID:24961278|PMID:25041077|PMID:25265965|PMID:25367728|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:25754277|PMID:26024028|PMID:26059258|PMID:26226118|PMID:2624270|PMID:26319241|PMID:26340261|PMID:26417411|PMID:26467025|PMID:26489027|PMID:26489029|PMID:26669242|PMID:26899772|PMID:27229139|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27657687|PMID:27838256|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28420700|PMID:28492532|PMID:28502589|PMID:28593362|PMID:28912863|PMID:29100090|PMID:29207974|PMID:29406598|PMID:29491316|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30143558|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:30773290|PMID:31131422|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31604004|PMID:31825128|PMID:32164334|PMID:32266039|PMID:32708349|PMID:33259036|PMID:33305128|PMID:33434175|PMID:33532864|PMID:33574344|PMID:33663443|PMID:33851123|PMID:7151342|PMID:9398836|PMID:9703339 3830 Hnf1b HNF1 homeobox B gene DOID:12849 autistic disorder ISO RGD:69136 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3830 Hnf1b HNF1 homeobox B gene DOID:2394 ovarian cancer ISO RGD:69136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12161522|PMID:25700310|PMID:25741868 3830 Hnf1b HNF1 homeobox B gene DOID:26 pancreas disease ISO RGD:69136 D RGD:2312751|PMID:15068978 20090901 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human) 3830 Hnf1b HNF1 homeobox B gene DOID:4450 renal cell carcinoma ISO RGD:69136 D RGD:7240710 20130221 OMIM 3830 Hnf1b HNF1 homeobox B gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:69136 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:15649945|PMID:16371430|PMID:25536396|PMID:25700310|PMID:25741868 3830 Hnf1b HNF1 homeobox B gene DOID:5419 schizophrenia ISO RGD:69136 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3830 Hnf1b HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:10402549|PMID:16971658 20151026 RGD DNA:mutation, deletions::multiple 3830 Hnf1b HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:2312749|PMID:17971380 20090901 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human) 3830 Hnf1b HNF1 homeobox B gene DOID:630 genetic disease ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11845237|PMID:11845238|PMID:15509593|PMID:15930087|PMID:16133182|PMID:19389850|PMID:20378641|PMID:20633866|PMID:22432796|PMID:25536396|PMID:25700310|PMID:25741868|PMID:30773290|PMID:33305128 3830 Hnf1b HNF1 homeobox B gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 3830 Hnf1b HNF1 homeobox B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096|PMID:18758462 3830 Hnf1b HNF1 homeobox B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69136 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3830 Hnf1b HNF1 homeobox B gene DOID:9004645 Familial Juvenile Hyperuricemic Nephropathy 3 ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3 PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:28492532|PMID:33434175 3830 Hnf1b HNF1 homeobox B gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 3830 Hnf1b HNF1 homeobox B gene DOID:9351 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26899772|PMID:27615128|PMID:28215227|PMID:28492532|PMID:30259503|PMID:33434175 3830 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17603485 3830 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:2312748|PMID:19417042 20090901 RGD DNA:deletions:cds:multiple (human) 3830 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:7240710 20130221 OMIM 3830 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21380624|PMID:21775974|PMID:22051731|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28492532|PMID:29927023|PMID:30481753|PMID:30655312|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123 3830 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69136 D RGD:2312750|PMID:15883474 20090901 RGD 3830 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69136 D RGD:1601484|PMID:11317673 20070423 RGD renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:25741868 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25741868 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:7240710 20130221 OMIM 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3 PMID:12654361|PMID:16252232|PMID:23599324|PMID:25741868|PMID:28492532|PMID:36613650 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:1686 glaucoma ISO RGD:1299953 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1299953 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:25741868 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:321 tropical spastic paraparesis ISS RGD:1552190 D RGD:13592920 20180518 MouseDO OMIM:159580 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1299953 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26934322 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:630 genetic disease ISO RGD:1299953 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:8541 Sezary's disease ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9000918 Disease Progression ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:7240710 20130221 OMIM 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6 PMID:20036349|PMID:23599324|PMID:25741868|PMID:26622166|PMID:28492532|PMID:33116287 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1299953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049|PMID:21501481 3831 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 3832 Tcp1 t-complex 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 3832 Tcp1 t-complex 1 gene DOID:630 genetic disease ISO RGD:732136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3832 Tcp1 t-complex 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 3836 Phlda1 pleckstrin homology-like domain, family A, member 1 gene DOID:0060224 atrial fibrillation ISO RGD:733133 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 3836 Phlda1 pleckstrin homology-like domain, family A, member 1 gene DOID:1561 cognitive disorder ISO RGD:733133 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36155068 3836 Phlda1 pleckstrin homology-like domain, family A, member 1 gene DOID:3042 allergic contact dermatitis ISO RGD:733133 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 3836 Phlda1 pleckstrin homology-like domain, family A, member 1 gene DOID:630 genetic disease ISO RGD:733133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3836 Phlda1 pleckstrin homology-like domain, family A, member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733133 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 3838 Prdx2 peroxiredoxin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733019 D RGD:153350131|PMID:29199150 20220908 RGD protein:increased expression:saliva 3838 Prdx2 peroxiredoxin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:733019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 3838 Prdx2 peroxiredoxin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:733019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 3838 Prdx2 peroxiredoxin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:733019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 3838 Prdx2 peroxiredoxin 2 gene DOID:10320 asbestosis ISO RGD:733019 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 3838 Prdx2 peroxiredoxin 2 gene DOID:14250 Down syndrome ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 3838 Prdx2 peroxiredoxin 2 gene DOID:1909 melanoma ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 3838 Prdx2 peroxiredoxin 2 gene DOID:305 carcinoma ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3838 Prdx2 peroxiredoxin 2 gene DOID:3347 osteosarcoma ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 3838 Prdx2 peroxiredoxin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:733019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 3838 Prdx2 peroxiredoxin 2 gene DOID:630 genetic disease ISO RGD:733019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3838 Prdx2 peroxiredoxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 3838 Prdx2 peroxiredoxin 2 gene DOID:8692 myeloid leukemia ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16932348 3838 Prdx2 peroxiredoxin 2 gene DOID:9000058 Keloid ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 3838 Prdx2 peroxiredoxin 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 3838 Prdx2 peroxiredoxin 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3838 Prdx2 peroxiredoxin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 3838 Prdx2 peroxiredoxin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 3838 Prdx2 peroxiredoxin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3838 Prdx2 peroxiredoxin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:733019 D RGD:153350137|PMID:23393224 20220909 RGD 3841 Tef TEF transcription factor, PAR bZIP family member gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3841 Tef TEF transcription factor, PAR bZIP family member gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345103 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 3841 Tef TEF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1345103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:10286 prostate carcinoma ISO RGD:736097 D RGD:2291960|PMID:12875974 20080407 RGD mRNA:increased expression:prostate gland 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:3008 invasive ductal carcinoma disease_progression IEP D RGD:2291958|PMID:17054309 20080407 RGD 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736097 D RGD:2291959|PMID:15337562 20080407 RGD mRNA:increased expression:uterine cervix 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:630 genetic disease ISO RGD:736097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:35316073|PMID:30226536 20200708 RGD mRNA,protein:decreased expression:brain 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage treatment IDA D RGD:35316073|PMID:30226536 20200708 RGD 3842 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:2291961|PMID:18005084 20080407 RGD protein:increased expression:liver 3845 Tf transferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16930377 3845 Tf transferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:7244177|PMID:23369046 20130524 RGD 3845 Tf transferrin gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 3845 Tf transferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11110675|PMID:12111369 3845 Tf transferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:7240710 20130221 OMIM 3845 Tf transferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia | ClinVar Annotator: match by term: Transferrin variant chi PMID:11110675|PMID:11703331|PMID:11920219|PMID:12111369|PMID:12752114|PMID:15060098|PMID:15466165|PMID:16398662|PMID:17768112|PMID:17809412|PMID:20029940|PMID:21665994|PMID:25741868|PMID:25773295|PMID:28492532|PMID:34828384|PMID:4625559|PMID:5711079|PMID:5927288|PMID:6585826|PMID:8317485|PMID:9272172 3845 Tf transferrin gene DOID:10283 prostate cancer ISO RGD:1342593 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3845 Tf transferrin gene DOID:10652 Alzheimer's disease ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15060098|PMID:17192785 3845 Tf transferrin gene DOID:10652 Alzheimer's disease ISO RGD:1342593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transferrin variant c1/c2 PMID:15060098|PMID:20029940|PMID:25741868|PMID:28492532|PMID:9272172 3845 Tf transferrin gene DOID:10763 hypertension ISO RGD:1342593 D RGD:1601524|PMID:14974364 20070424 RGD protein:decreased expression 3845 Tf transferrin gene DOID:10976 membranous glomerulonephritis ISO RGD:1342593 D RGD:7244198|PMID:22328173 20130528 RGD associated with Lupus Erythematosus, Systemic 3845 Tf transferrin gene DOID:11758 iron deficiency anemia ISO RGD:1342593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iron deficiency anemia PMID:11703331|PMID:12752114|PMID:16398662|PMID:28492532 3845 Tf transferrin gene DOID:11758 iron deficiency anemia susceptibility ISO RGD:1342593 D RGD:1601513|PMID:11703331 20070424 RGD DNA:missense mutation:exon:p.G277S 3845 Tf transferrin gene DOID:1184 nephrotic syndrome ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17178036 3845 Tf transferrin gene DOID:12849 autistic disorder ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 3845 Tf transferrin gene DOID:1496 echinococcosis ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 3845 Tf transferrin gene DOID:1574 alcohol use disorder ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11000917|PMID:21792595 3845 Tf transferrin gene DOID:1790 malignant mesothelioma ISO RGD:1342593 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 3845 Tf transferrin gene DOID:2237 hepatitis IDA D RGD:1601541|PMID:16480686 20070424 RGD protein:decreased modification:serum 3845 Tf transferrin gene DOID:2237 hepatitis ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 3845 Tf transferrin gene DOID:2355 anemia IEP D RGD:7244377|PMID:23270806 20130604 RGD associated with Trypanosomiasis;protein:increased expression:serum 3845 Tf transferrin gene DOID:2355 anemia treatment ISO RGD:1342593 D RGD:7244154|PMID:23680589 20130524 RGD associated with Heart Failure 3845 Tf transferrin gene DOID:2921 glomerulonephritis severity ISO RGD:1342593 D RGD:7244194|PMID:22607047 20130528 RGD 3845 Tf transferrin gene DOID:3021 acute kidney failure ISO RGD:1342593 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3845 Tf transferrin gene DOID:305 carcinoma ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9879772|PMID:16316942 3845 Tf transferrin gene DOID:3910 lung adenocarcinoma ISO RGD:1342593 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 3845 Tf transferrin gene DOID:4195 hyperglycemia susceptibility ISO RGD:1342593 D RGD:1601518|PMID:16936158 20070424 RGD 3845 Tf transferrin gene DOID:630 genetic disease ISO RGD:1342593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3845 Tf transferrin gene DOID:77 gastrointestinal system disease ISO RGD:1342593 D RGD:7244197|PMID:23055815 20130528 RGD associated with Anemia and Renal Insufficiency, Chronic 3845 Tf transferrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9879772|PMID:16316942 3845 Tf transferrin gene DOID:9000998 Brain Injuries IEP D RGD:7244386|PMID:22538758 20130604 RGD 3845 Tf transferrin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:7244387|PMID:22464783 20130604 RGD 3845 Tf transferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 3845 Tf transferrin gene DOID:9002165 Diabetic Nephropathies IDA D RGD:7244196|PMID:23468095 20130528 RGD 3845 Tf transferrin gene DOID:9002955 Nerve Degeneration resistance IDA D RGD:1601536|PMID:17010319 20070424 RGD 3845 Tf transferrin gene DOID:9003104 Intracranial Hemorrhages IEP D RGD:1601537|PMID:16671451 20070424 RGD associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia 3845 Tf transferrin gene DOID:9003565 Paratuberculosis ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 3845 Tf transferrin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1342593 D RGD:7244383|PMID:22736466 20130604 RGD 3845 Tf transferrin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 3845 Tf transferrin gene DOID:9004713 Acute-Phase Reaction IEP D RGD:1601529|PMID:17417667 20070424 RGD 3845 Tf transferrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9879772|PMID:16316942 3845 Tf transferrin gene DOID:9005372 Inflammation ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 3845 Tf transferrin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1601532|PMID:17081048 20070424 RGD 3845 Tf transferrin gene DOID:9005725 Iron Overload ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 3845 Tf transferrin gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1342593 D RGD:1601514|PMID:17416791 20070424 RGD protein:increased expression:serum 3845 Tf transferrin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342593 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3845 Tf transferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 3845 Tf transferrin gene DOID:9007692 Insulin Resistance IEP D RGD:1601515|PMID:17350134 20070424 RGD protein:increased expression:plasma 3845 Tf transferrin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342593 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 3845 Tf transferrin gene DOID:9270 alkaptonuria ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 3845 Tf transferrin gene DOID:9452 fatty liver disease ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177 3845 Tf transferrin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342593 D RGD:7244379|PMID:22861364 20130604 RGD 3845 Tf transferrin gene DOID:9970 obesity IEP D RGD:1601520|PMID:16267817 20070424 RGD 3845 Tf transferrin gene DOID:9970 obesity ISO RGD:1342593 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 3846 Tfec transcription factor EC gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735415 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 3846 Tfec transcription factor EC gene DOID:630 genetic disease ISO RGD:735415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3846 Tfec transcription factor EC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735415 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3847 Tff3 trefoil factor 3 gene DOID:0060071 pre-malignant neoplasm IEP D RGD:7349371|PMID:17847023 20130923 RGD protein:decreased expression:colon 3847 Tff3 trefoil factor 3 gene DOID:0080178 mucositis ISO RGD:736458 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19636011 3847 Tff3 trefoil factor 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:11407 D RGD:14747028|PMID:31211621 20190911 RGD mRNA,protein:decreased expression:liver: 3847 Tff3 trefoil factor 3 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11407 D RGD:14747028|PMID:31211621 20190911 RGD 3847 Tff3 trefoil factor 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 3847 Tff3 trefoil factor 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 3847 Tff3 trefoil factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736458 D RGD:2291999|PMID:16467092 20080408 RGD protein:increased expression:plasma 3847 Tff3 trefoil factor 3 gene DOID:219 colon cancer IEP D RGD:7349371|PMID:17847023 20130923 RGD protein:decreased expression:colon 3847 Tff3 trefoil factor 3 gene DOID:3021 acute kidney failure ISO RGD:736458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 3847 Tff3 trefoil factor 3 gene DOID:557 kidney disease ISO RGD:736458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24863737 3847 Tff3 trefoil factor 3 gene DOID:630 genetic disease ISO RGD:736458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3847 Tff3 trefoil factor 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736458 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 3847 Tff3 trefoil factor 3 gene DOID:9000156 Metaplasia ISO RGD:736458 D RGD:7364761|PMID:12612884 20130926 RGD associated with Duodenal Diseases 3847 Tff3 trefoil factor 3 gene DOID:9000722 Animal Hepatitis ISO RGD:736458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 3847 Tff3 trefoil factor 3 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:7349369|PMID:19287349 20130923 RGD 3847 Tff3 trefoil factor 3 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:11407 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 3847 Tff3 trefoil factor 3 gene DOID:9263 homocystinuria ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 3847 Tff3 trefoil factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 3848 Tg thyroglobulin gene DOID:0050328 congenital hypothyroidism ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10404833|PMID:11484898|PMID:14764776|PMID:15769978|PMID:16199547|PMID:16403815|PMID:17532758|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:23164529|PMID:25741868|PMID:2584351|PMID:28492532|PMID:7593451|PMID:8325944|PMID:9588493 3848 Tg thyroglobulin gene DOID:0050328 congenital hypothyroidism ISS RGD:11408 D RGD:13592920 20180518 MouseDO 3848 Tg thyroglobulin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 3848 Tg thyroglobulin gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:12880373|PMID:3366187 20170503 RGD 3848 Tg thyroglobulin gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:730133|PMID:11089535 20170503 RGD 3848 Tg thyroglobulin gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:735819 D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 3848 Tg thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:735819 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3848 Tg thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:735819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:10199792|PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15611820|PMID:15769978|PMID:16187910|PMID:16187918|PMID:16199547|PMID:16403815|PMID:16477365|PMID:16720658|PMID:17033963|PMID:17244789|PMID:1752952|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20410234|PMID:20447071|PMID:20981092|PMID:21128992|PMID:21372558|PMID:21900383|PMID:21958696|PMID:23164529|PMID:23455760|PMID:23457309|PMID:23535966|PMID:23933148|PMID:24033266|PMID:25741868|PMID:2584351|PMID:26595189|PMID:26742565|PMID:26777470|PMID:26813946|PMID:27373559|PMID:27498126|PMID:28492532|PMID:29590070|PMID:31042289|PMID:34248839|PMID:34780050|PMID:7593451|PMID:8094490|PMID:8325944|PMID:9588493 3848 Tg thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 susceptibility ISO RGD:735819 D RGD:7240710 20230505 OMIM 3848 Tg thyroglobulin gene DOID:10283 prostate cancer ISO RGD:735819 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3848 Tg thyroglobulin gene DOID:12176 goiter ISO RGD:735819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8094490|PMID:24582622 3848 Tg thyroglobulin gene DOID:12176 goiter susceptibility ISO RGD:735819 D RGD:1600141|PMID:1752952 20070228 RGD associated with Hypothyroidism;DNA:deletion:exon 3848 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 3848 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:8548606|PMID:14636875 20140312 RGD 3848 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:8548643|PMID:22662162 20140314 RGD DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) 3848 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:8548645|PMID:95586 20140314 RGD protein:increased expression:serum 3848 Tg thyroglobulin gene DOID:12361 Graves' disease no_association ISO RGD:735819 D RGD:8548630|PMID:18656705 20140313 RGD DNA:SNPs:exon:multiple 3848 Tg thyroglobulin gene DOID:12361 Graves' disease treatment ISO RGD:735819 D RGD:8548644|PMID:17550957 20140314 RGD DNA:SNP:exon 3848 Tg thyroglobulin gene DOID:14264 benign neonatal seizures ISO RGD:735819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 3848 Tg thyroglobulin gene DOID:1459 hypothyroidism IAGP D RGD:730133|PMID:11089535 19990101 RGD DNA:missense mutation:CDS:p.G2320R (rat) 3848 Tg thyroglobulin gene DOID:1459 hypothyroidism ISO RGD:735819 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 3848 Tg thyroglobulin gene DOID:1459 hypothyroidism treatment IAGP D RGD:150429798|PMID:16365524 20210929 RGD 3848 Tg thyroglobulin gene DOID:1596 depressive disorder ISO RGD:735819 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 3848 Tg thyroglobulin gene DOID:2030 anxiety disorder ISO RGD:735819 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 3848 Tg thyroglobulin gene DOID:417 autoimmune disease ISO RGD:735819 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 3848 Tg thyroglobulin gene DOID:5426 primary ovarian insufficiency ISO RGD:735819 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 3848 Tg thyroglobulin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735819 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer PMID:25741868 3848 Tg thyroglobulin gene DOID:630 genetic disease ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3848 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:11408 D RGD:5147557|PMID:21683551 20110811 RGD 3848 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:11408|RGD:735819 D RGD:8548629|PMID:14657345 20140313 RGD DNA:SNPs, haplotype:exon:multiple 3848 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:735819 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29385629 3848 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:735819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15769978|PMID:16477365|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:21757724|PMID:23164529|PMID:23535966|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28942902|PMID:29590070|PMID:34248839|PMID:34780050|PMID:8325944|PMID:9588493 3848 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735819 D RGD:7240710 20230505 OMIM 3848 Tg thyroglobulin gene DOID:9006101 Primary Ovarian Failure ISO RGD:735819 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 3848 Tg thyroglobulin gene DOID:9006205 Animal Disease Models ISO RGD:735819 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 3848 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease IDA D RGD:8548647|PMID:3052944 20140314 RGD 3848 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 3848 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:8548606|PMID:14636875 20140312 RGD 3848 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:8548607|PMID:21559421 20140312 RGD 3848 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease no_association ISO RGD:735819 D RGD:8548630|PMID:18656705 20140313 RGD DNA:SNPs:exon:multiple 3848 Tg thyroglobulin gene DOID:9007661 Dwarfism IAGP D RGD:13605608|PMID:10760744 20201210 RGD 3848 Tg thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:735819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24582622 3848 Tg thyroglobulin gene DOID:9007661 Dwarfism treatment IAGP D RGD:150429798|PMID:16365524 20210929 RGD 3849 Tgfa transforming growth factor alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:736273 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 3849 Tgfa transforming growth factor alpha gene DOID:0080178 mucositis ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18803016 3849 Tgfa transforming growth factor alpha gene DOID:11396 pulmonary edema ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11919079 3849 Tgfa transforming growth factor alpha gene DOID:1793 pancreatic cancer IMP D RGD:2317468|PMID:17785207 20100406 RGD 3849 Tgfa transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:736273 D RGD:2317473|PMID:1401070 20100406 RGD mRNA, protein:increased expression:pancreas 3849 Tgfa transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:736273 D RGD:5490965|PMID:19506583 20110921 RGD 3849 Tgfa transforming growth factor alpha gene DOID:2326 gastroenteritis ISO RGD:736273 D RGD:2317483|PMID:18956197 20100406 RGD 3849 Tgfa transforming growth factor alpha gene DOID:2615 papilloma ISO RGD:736273 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 3849 Tgfa transforming growth factor alpha gene DOID:3021 acute kidney failure IEP D RGD:10395241|PMID:11340354 20150826 RGD mRNA:increased expression:kidney 3849 Tgfa transforming growth factor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 3849 Tgfa transforming growth factor alpha gene DOID:3892 insulinoma ISO RGD:736273 D RGD:2317472|PMID:8712689 20100406 RGD protein:increased expression:pancreas 3849 Tgfa transforming growth factor alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16230376 3849 Tgfa transforming growth factor alpha gene DOID:4948 gallbladder carcinoma ISO RGD:736273 D RGD:2317470|PMID:9542514 20100406 RGD 3849 Tgfa transforming growth factor alpha gene DOID:630 genetic disease ISO RGD:736273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3849 Tgfa transforming growth factor alpha gene DOID:6432 pulmonary hypertension ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 3849 Tgfa transforming growth factor alpha gene DOID:684 hepatocellular carcinoma IEP D RGD:2317471|PMID:9060843 20100406 RGD associated with Diabetes Mellitus, Experimental 3849 Tgfa transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9029167|PMID:15565109 3849 Tgfa transforming growth factor alpha gene DOID:687 hepatoblastoma ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 3849 Tgfa transforming growth factor alpha gene DOID:8893 psoriasis ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7519033 3849 Tgfa transforming growth factor alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15723263 3849 Tgfa transforming growth factor alpha gene DOID:9000310 Lung Injury ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11919079 3849 Tgfa transforming growth factor alpha gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 3849 Tgfa transforming growth factor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736273 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 3849 Tgfa transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2317490|PMID:16734725 20100407 RGD protein:increased expression:liver 3849 Tgfa transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9079223 3849 Tgfa transforming growth factor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17136230 3849 Tgfa transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis IEP D RGD:2317486|PMID:17968906 20100407 RGD protein:increased expression:cartilage 3849 Tgfa transforming growth factor alpha gene DOID:9002955 Nerve Degeneration ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9263032 3849 Tgfa transforming growth factor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736273 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 3849 Tgfa transforming growth factor alpha gene DOID:9005372 Inflammation ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11919079 3849 Tgfa transforming growth factor alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 3849 Tgfa transforming growth factor alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:736273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 3849 Tgfa transforming growth factor alpha gene DOID:9007096 Stroke IMP D RGD:2317476|PMID:19248822 20100406 RGD 3849 Tgfa transforming growth factor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:736273 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:8807143 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:305 carcinoma ISO RGD:1604401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:630 genetic disease ISO RGD:1604401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15833021|PMID:17533171 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3850 Tsc22d1 TSC22 domain family, member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604401 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 38501086 SD-Bmpr2em1Ang+/- strain DOID:9004771 Vascular Remodeling IMP D RGD:38500244|PMID:25593290 20200924 RGD 38501087 Bmpr2em1Ang bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Ang gene DOID:9004771 Vascular Remodeling IMP D RGD:38500244|PMID:25593290 20200924 RGD 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050451 Brugada syndrome ISO RGD:735686 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS PMID:25741868|PMID:28492532 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:735686 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:735686 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0050700 cardiomyopathy ISO RGD:735686 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28240702|PMID:28492532 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:24798638|PMID:25741868|PMID:25835445|PMID:2618446|PMID:28425089|PMID:28492532 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:7240710 20170201 OMIM 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome PMID:12529708|PMID:15639475|PMID:16199547|PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28425089|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:7240710 20130221 OMIM 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:12529708|PMID:15639475|PMID:16199547|PMID:23824657|PMID:23861362|PMID:24798638|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:28087566|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31898322|PMID:32746448|PMID:32897753 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:1059 intellectual disability ISO RGD:735686 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:10763 hypertension no_association ISO RGD:735686 D RGD:1625704|PMID:15924806 20070622 RGD DNA:polymorphism, SNPs 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:25835445|PMID:28492532|PMID:28798025|PMID:31568572 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:735686 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:7737999|PMID:9536098|PMID:9683588 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:219 colon cancer disease_progression ISO RGD:735686 D RGD:13432091|PMID:18360718 20170919 RGD 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:735686 D RGD:155630628|PMID:8253361 20221026 RGD protein:decreased expression:pancreas (human) 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:630 genetic disease ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:674 cleft palate ISO RGD:733158 D RGD:12801424|PMID:17097601 20170329 RGD 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:674 cleft palate ISO RGD:735686 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:7493022|PMID:26971374 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9001600 Wounds and Injuries IEP D RGD:2292158|PMID:18205704 20081118 RGD 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9006836 Contracture ISO RGD:735686 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735686 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:735686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7493022 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9008582 Developmental Disease ISO RGD:735686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:31898322 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9256 colorectal cancer treatment ISO RGD:735686 D RGD:13432088|PMID:12778073 20170919 RGD 3851 Tgfb3 transforming growth factor, beta 3 gene DOID:9743 diabetic neuropathy IEP D RGD:2302086|PMID:18406405 20081118 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20358619|PMID:22772368 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28492532|PMID:28655553|PMID:30739908|PMID:31624717 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31624717|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18070134|PMID:18455604|PMID:18781618|PMID:18852674|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467|PMID:34270679 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 susceptibility ISO RGD:733386 D RGD:7240710 20230505 OMIM 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:1059 intellectual disability ISO RGD:733386 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:733386 D RGD:2302036|PMID:9363992 20081117 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:127 leiomyoma IMP D RGD:2302021|PMID:17505012 20081114 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:12712 nephronophthisis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733386 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16928994|PMID:18781618|PMID:20332227|PMID:24033266|PMID:24055113|PMID:25116393|PMID:25260786|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25907466|PMID:25985138|PMID:26017485|PMID:27011056|PMID:27153395|PMID:28492532|PMID:28655553 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:2299005|PMID:18313409 20080808 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27558455|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29543232|PMID:30087447|PMID:30675029|PMID:30739908|PMID:31624717|PMID:31837199|PMID:5173258|PMID:8499949|PMID:9536098 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29907982|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30675029|PMID:30701076|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:33256177|PMID:5173258|PMID:8499949|PMID:9536098 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733386 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:30675029 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:1580 diffuse scleroderma ISO RGD:733386 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:2256 osteochondrodysplasia IMP D RGD:2302024|PMID:17366323 20081114 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:2340 craniosynostosis ISO RGD:733386 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:2661 myoepithelioma ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:3021 acute kidney failure ISO RGD:733386 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:733386 D RGD:155630637|PMID:17297450 20221026 RGD human cell line in a mouse model 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:3627 aortic aneurysm ISO RGD:733386 D RGD:2299005|PMID:18313409 20080808 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:3883 Lynch syndrome ISO RGD:733386 D RGD:2306282|PMID:17613544 20090402 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:418 systemic scleroderma ISS RGD:736083 D RGD:13592920 20180518 MouseDO OMIM:181750 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:4676 uremia ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:733386 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:520 aortic disease ISO RGD:733386 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:16928994|PMID:23884466|PMID:26848186|PMID:27879313|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:557 kidney disease IEP D RGD:2302020|PMID:18198643 20081114 RGD protein:increased expression:kidney 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:5585 Ferguson-Smith tumor ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358634 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:5585 Ferguson-Smith tumor ISO RGD:733386 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25521989|PMID:25637381|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:29706644|PMID:29907982|PMID:31915033|PMID:33256177|PMID:33824467|PMID:5173258|PMID:8499949 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:5585 Ferguson-Smith tumor susceptibility ISO RGD:733386 D RGD:7240710 20190502 OMIM 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:5844 myocardial infarction IEP D RGD:1601617|PMID:10198196 20170510 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:630 genetic disease ISO RGD:733386 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499371|PMID:16928994|PMID:18781618|PMID:22113417|PMID:23672593|PMID:25437144|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:6432 pulmonary hypertension IMP D RGD:2302019|PMID:18202349 20081114 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:65 connective tissue disease ISO RGD:733386 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:8398 osteoarthritis ISS RGD:736083 D RGD:13592920 20190613 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733386 D RGD:737735|PMID:12808151 20131105 RGD associated with Mammary Neoplasms, Experimental 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:27879313|PMID:28492532 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1601595|PMID:16009107 20081117 RGD protein:increased expression:liver 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:2302027|PMID:15723089 20081117 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733386 D RGD:38500244|PMID:25593290 20200924 RGD mRNA:increased expression:lung 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9002211 Hyperalgesia IMP D RGD:14995470|PMID:26645248 20191025 RGD associated with Experimental Pancreatitis, Chronic 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358634 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733386 D RGD:737735|PMID:12808151 20131105 RGD 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:16799921|PMID:19542084|PMID:26848186|PMID:26877057|PMID:28492532|PMID:30739908 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:733386 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733386 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733386 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18703712 3852 Tgfbr1 transforming growth factor, beta receptor 1 gene DOID:9256 colorectal cancer ISO RGD:733386 D RGD:155630638|PMID:24880985 20221026 RGD sporadic colorectal cancer;DNA:deletion:exon: (rs11466445) (human) 3853 Th tyrosine hydroxylase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 3853 Th tyrosine hydroxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 3853 Th tyrosine hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 3853 Th tyrosine hydroxylase gene DOID:0050835 generalized dystonia ISO RGD:733897 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 3853 Th tyrosine hydroxylase gene DOID:0060001 withdrawal disorder IEP D RGD:5128830|PMID:20973778 20110318 RGD protein:increased serine phosphorylation:brainstem (rat) 3853 Th tyrosine hydroxylase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:35083481 3853 Th tyrosine hydroxylase gene DOID:0080773 delta beta-thalassemia ISO RGD:733897 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 3853 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism IEP D RGD:13524532|PMID:20561938 20180416 RGD protein:decreased expression:striatum 3853 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8817341|PMID:11246459 3853 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism susceptibility ISO RGD:733897 D RGD:1601634|PMID:7814018 20070426 RGD Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L 3853 Th tyrosine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:733897 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:18554280|PMID:20056467|PMID:24753243|PMID:25741868|PMID:28087438|PMID:28492532|PMID:29405179|PMID:32185155 3853 Th tyrosine hydroxylase gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 3853 Th tyrosine hydroxylase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 3853 Th tyrosine hydroxylase gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:12610512|PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33206859 3853 Th tyrosine hydroxylase gene DOID:0111969 immunodeficiency 39 ISO RGD:733897 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 3853 Th tyrosine hydroxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 3853 Th tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:11414 D RGD:2311578|PMID:18823370 20110401 RGD protein:increased serine phosphorylation:cerebral cortex (mouse) 3853 Th tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 3853 Th tyrosine hydroxylase gene DOID:10762 portal hypertension IEP D RGD:5129480|PMID:19968782 20110330 RGD mRNA:decreased expression:superior mesenteric artery (rat) 3853 Th tyrosine hydroxylase gene DOID:10763 hypertension IEP D RGD:1601630|PMID:16650497 20070426 RGD mRNA:increased expression:brain 3853 Th tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:733897 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540|PMID:32165127 3853 Th tyrosine hydroxylase gene DOID:10763 hypertension susceptibility ISO RGD:733897 D RGD:1601631|PMID:16636198 20070426 RGD DNA:polymorphism:intron:g.1090T>C rs2070762 (human) 3853 Th tyrosine hydroxylase gene DOID:10825 essential hypertension ISO RGD:733897 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 3853 Th tyrosine hydroxylase gene DOID:114 heart disease ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 3853 Th tyrosine hydroxylase gene DOID:11612 polycystic ovary syndrome IEP D RGD:5508374|PMID:15795180 20111013 RGD mRNA,protein:increased expression:ovary 3853 Th tyrosine hydroxylase gene DOID:11717 neonatal diabetes ISO RGD:733897 D RGD:8554872 20170926 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868 3853 Th tyrosine hydroxylase gene DOID:12217 Lewy body dementia ISO RGD:733897 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 3853 Th tyrosine hydroxylase gene DOID:12700 hyperprolactinemia IEP D RGD:5128768|PMID:21178126 20110316 RGD protein:increased tyrosine nitration:hypothalamus, median eminence (rat) 3853 Th tyrosine hydroxylase gene DOID:12700 hyperprolactinemia treatment IEP D RGD:13506955|PMID:26297122 20180227 RGD 3853 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease IEP D RGD:5128607|PMID:21376343 20110314 RGD protein:decreased expression:midbrain, neuron (rat) 3853 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease IMP D RGD:5129120|PMID:2573072 20110324 RGD 3853 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:11414 D RGD:5128616|PMID:21323909 20110314 RGD protein:decreased expression:substantia nigra (mouse) 3853 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 3853 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:2289955|PMID:15857400 20110427 RGD protein:decreased expression:striatum (human) 3853 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:5129121|PMID:9853519 20110324 RGD human gene in a rat model 3853 Th tyrosine hydroxylase gene DOID:1440 Machado-Joseph disease IEP D RGD:5131159|PMID:18385100 20110421 RGD protein:decreased expression:substantia nigra (rat) 3853 Th tyrosine hydroxylase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733897 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 3853 Th tyrosine hydroxylase gene DOID:1596 depressive disorder IEP D RGD:9681459|PMID:24495952 20141202 RGD mRNA,protein:decreased expression:hippocampus: 3853 Th tyrosine hydroxylase gene DOID:1826 epilepsy IEP D RGD:5128800|PMID:19605093 20110317 RGD protein:decreased activity:cerebral cortex (rat) 3853 Th tyrosine hydroxylase gene DOID:2316 brain ischemia IEP D RGD:5129691|PMID:18356740 20110405 RGD protein:decreased expression:solitary tract nucleus, medulla oblongata, locus coeruleus (rat) 3853 Th tyrosine hydroxylase gene DOID:3525 middle cerebral artery infarction IEP D RGD:5128609|PMID:21366664 20110314 RGD protein:decreased expression:substantia nigra pars compacta, neuron (rat) 3853 Th tyrosine hydroxylase gene DOID:4676 uremia IEP D RGD:5128603|PMID:2875142 20110311 RGD protein:decreased activity:brain (rat) 3853 Th tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15505183 3853 Th tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:21465550|PMID:21940685|PMID:22264700|PMID:23939262|PMID:24753243|PMID:25741868|PMID:26220941|PMID:26276013|PMID:26467025|PMID:27185167|PMID:27619486|PMID:28492532|PMID:29225908|PMID:29724574|PMID:29801903|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425 3853 Th tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:22264700|PMID:24753243|PMID:25741868|PMID:26220941|PMID:27185167|PMID:28492532|PMID:29225908|PMID:29724574|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9536098|PMID:9703425 3853 Th tyrosine hydroxylase gene DOID:5844 myocardial infarction no_association ISO RGD:733897 D RGD:1580048|PMID:16139102 20070426 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) 3853 Th tyrosine hydroxylase gene DOID:6000 congestive heart failure IEP D RGD:5128674|PMID:21287352 20110315 RGD protein:increased expression:paraventricular thalamic nucleus (rat) 3853 Th tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:11414 D RGD:737737|PMID:7715703 19990101 RGD 3853 Th tyrosine hydroxylase gene DOID:630 genetic disease ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11160968|PMID:11246459|PMID:15468323|PMID:17696123|PMID:20399390|PMID:20430833|PMID:22264700|PMID:24753243|PMID:25741868|PMID:28492532|PMID:29225908|PMID:29724574|PMID:33072517|PMID:34054692 3853 Th tyrosine hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 3853 Th tyrosine hydroxylase gene DOID:769 neuroblastoma ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 3853 Th tyrosine hydroxylase gene DOID:8927 learning disability ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9822156|PMID:10984662 3853 Th tyrosine hydroxylase gene DOID:9000998 Brain Injuries IEP D RGD:5128822|PMID:21047500 20110318 RGD protein:decreased activity:striatum (rat) 3853 Th tyrosine hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5129683|PMID:18457899 20110405 RGD mRNA:decreased expression:superior mesenteric artery (rat) 3853 Th tyrosine hydroxylase gene DOID:9002188 Hypoinsulinemia ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 3853 Th tyrosine hydroxylase gene DOID:9002362 Hyperkinesis ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 3853 Th tyrosine hydroxylase gene DOID:9002955 Nerve Degeneration ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 3853 Th tyrosine hydroxylase gene DOID:9003282 Hyperproinsulinemia ISO RGD:733897 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:25741868 3853 Th tyrosine hydroxylase gene DOID:9003805 Catalepsy ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9822156|PMID:10984662 3853 Th tyrosine hydroxylase gene DOID:9004009 Reperfusion Injury ISO RGD:733897 D RGD:5128821|PMID:21061149 20110318 RGD protein:increased expression:medulla oblongata (human) 3853 Th tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8528210|PMID:8817341 3853 Th tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:7240710 20130221 OMIM 3853 Th tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:10407773|PMID:10585338|PMID:10753262|PMID:11160968|PMID:11246459|PMID:11281275|PMID:11921414|PMID:12610512|PMID:12891655|PMID:15468323|PMID:15505183|PMID:15747353|PMID:16049992|PMID:16199547|PMID:16376043|PMID:16643317|PMID:17576681|PMID:17696123|PMID:17698383|PMID:17698732|PMID:18058633|PMID:18162506|PMID:18171712|PMID:18554280|PMID:19120120|PMID:19224593|PMID:19282209|PMID:19491146|PMID:20056467|PMID:2019643|PMID:20198643|PMID:20301610|PMID:20399390|PMID:20430833|PMID:20492352|PMID:20809526|PMID:20823027|PMID:21937992|PMID:22264700|PMID:22572540|PMID:22583432|PMID:22815559|PMID:23480488|PMID:23762320|PMID:23939262|PMID:24033266|PMID:24275212|PMID:24753243|PMID:25181484|PMID:25224241|PMID:25542748|PMID:25741868|PMID:25758715|PMID:25910213|PMID:26101329|PMID:26220941|PMID:26276013|PMID:26467025|PMID:26686676|PMID:27165006|PMID:27185167|PMID:27619486|PMID:27934587|PMID:27973928|PMID:28087438|PMID:28186668|PMID:28492532|PMID:28667724|PMID:28726809|PMID:29126763|PMID:29225908|PMID:29405179|PMID:29724574|PMID:29801903|PMID:30455893|PMID:30456822|PMID:31130284|PMID:31273557|PMID:31392251|PMID:32005694|PMID:32185155|PMID:32395404|PMID:32872068|PMID:33072517|PMID:33206859|PMID:33233562|PMID:33742171|PMID:34054692|PMID:35083481|PMID:7789962|PMID:7814018|PMID:7910484|PMID:7964718|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425|PMID:9732974|PMID:9754624 3853 Th tyrosine hydroxylase gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:733897 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:25741868 3853 Th tyrosine hydroxylase gene DOID:9005166 Contusions IEP D RGD:5129532|PMID:18987458 20110401 RGD mRNA:increased expression:adrenal gland (rat) 3853 Th tyrosine hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1601629|PMID:17151307 20070426 RGD protein:increased expression:seminal vesicle 3853 Th tyrosine hydroxylase gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 3853 Th tyrosine hydroxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15659429 3853 Th tyrosine hydroxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 3853 Th tyrosine hydroxylase gene DOID:936 brain disease ISO RGD:733897 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7842013 3853 Th tyrosine hydroxylase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532 3853 Th tyrosine hydroxylase gene DOID:9970 obesity resistance ISO RGD:733897 D RGD:1601632|PMID:16251897 20070426 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) 3853 Th tyrosine hydroxylase gene DOID:9993 hypoglycemia IEP D RGD:5130724|PMID:16396986 20110411 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) 3854 H2ac1 H2A clustered histone 1 gene DOID:630 genetic disease ISO RGD:1349225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 38543943 SD-Rag2em1Hera strain DOID:627 severe combined immunodeficiency IMP D RGD:38508903|PMID:30206106 20200821 RGD 38548914 SD-Rag1em1Rag2em1/Mlit strain DOID:627 severe combined immunodeficiency IMP D RGD:38508906|PMID:29944447 20200821 RGD 38548915 SD-Il2rgem1-/y/Mlit strain DOID:627 severe combined immunodeficiency IMP D RGD:38508906|PMID:29944447 20200821 RGD 38548916 SD-Rag1em1Rag2em1Il2rgem1-/y/Mlit strain DOID:627 severe combined immunodeficiency severity IMP D RGD:38508906|PMID:29944447 20200821 RGD 38548927 HsdCpb:WU Wistar Wu Rat strain DOID:9001542 Albuminuria treatment IAGP XCO:0000114,XCO:0000548 D RGD:25314248|PMID:20864942 20210324 RGD compared to WU-Nx and MWF-Nx-ACEI 3855 H2bc1 H2B clustered histone 1 gene DOID:630 genetic disease ISO RGD:1352004 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3857 Thra thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:7240710 20140911 OMIM 3857 Thra thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:22168587|PMID:22494134|PMID:24969835|PMID:25326635|PMID:25670821|PMID:25741868|PMID:28492532|PMID:34008892 3857 Thra thyroid hormone receptor alpha gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:736295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 3857 Thra thyroid hormone receptor alpha gene DOID:11633 thyroid hormone resistance syndrome ISS RGD:11415 D RGD:13592920 20190725 MouseDO OMIM:188570 | OMIM:274300 3857 Thra thyroid hormone receptor alpha gene DOID:1612 breast cancer ISO RGD:736295 D RGD:2315096|PMID:12082618 20091218 RGD 3857 Thra thyroid hormone receptor alpha gene DOID:289 endometriosis ISO RGD:736295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 3857 Thra thyroid hormone receptor alpha gene DOID:4450 renal cell carcinoma ISO RGD:736295 D RGD:2315097|PMID:11756220 20091218 RGD DNA:mutations (human) 3857 Thra thyroid hormone receptor alpha gene DOID:630 genetic disease ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24969835|PMID:25741868 3857 Thra thyroid hormone receptor alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736295 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3857 Thra thyroid hormone receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2314321|PMID:17389455 20091110 RGD associated with Myocardial Infarction;protein:increased expression:heart 3857 Thra thyroid hormone receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 3858 Thrb thyroid hormone receptor beta gene DOID:0060224 atrial fibrillation ISO RGD:734423 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 3858 Thrb thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:7240710 20130221 OMIM 3858 Thrb thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone PMID:10022392|PMID:11518118|PMID:1159077|PMID:12554782|PMID:1358935|PMID:1400873|PMID:15802373|PMID:16464943|PMID:16804041|PMID:20237409|PMID:21703645|PMID:21795843|PMID:21871106|PMID:22551329|PMID:24174637|PMID:25040256|PMID:25502991|PMID:25741868|PMID:26041374|PMID:26467025|PMID:28492532|PMID:30148208|PMID:31341516|PMID:32635414|PMID:33353459|PMID:34382419|PMID:7593433|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8200958|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8563471|PMID:8674808|PMID:8889584|PMID:8958790|PMID:9086567|PMID:9140079|PMID:9141558 3858 Thrb thyroid hormone receptor beta gene DOID:10283 prostate cancer ISO RGD:734423 D RGD:2315095|PMID:18336598 20091218 RGD DNA:loss of heterozygosity (human) 3858 Thrb thyroid hormone receptor beta gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:737557 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 3858 Thrb thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:734423 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9349583|PMID:10660344 3858 Thrb thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:734423 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome PMID:1324420|PMID:1400869|PMID:1548332|PMID:20808683|PMID:22947347|PMID:25040256|PMID:25741868|PMID:26273722|PMID:26467025|PMID:28235578|PMID:30430796|PMID:30497070|PMID:8013151|PMID:8828460|PMID:9804773 3858 Thrb thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome susceptibility ISO RGD:734423 D RGD:1601659|PMID:15913586 20070427 RGD DNA:missense mutation:exon:p.I276L (human) 3858 Thrb thyroid hormone receptor beta gene DOID:1612 breast cancer IDA D RGD:2315977|PMID:20082849 20100120 RGD 3858 Thrb thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:734423 D RGD:2315096|PMID:12082618 20091218 RGD 3858 Thrb thyroid hormone receptor beta gene DOID:3459 breast carcinoma ISO RGD:734423 D RGD:2315100|PMID:2573734 20091218 RGD DNA:loss of heterozygosity (human) 3858 Thrb thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:734423 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 3858 Thrb thyroid hormone receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:734423 D RGD:2315097|PMID:11756220 20091218 RGD DNA:mutations (human) 3858 Thrb thyroid hormone receptor beta gene DOID:630 genetic disease ISO RGD:734423 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10918302|PMID:1314846|PMID:26467025|PMID:8514853 3858 Thrb thyroid hormone receptor beta gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:734423 D RGD:2315099|PMID:11483913 20091218 RGD DNA:loss of heterozygosity (human) 3858 Thrb thyroid hormone receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734423 D RGD:2289906|PMID:9462708 20091218 RGD DNA:loss of heterozygosity (human) 3858 Thrb thyroid hormone receptor beta gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2314321|PMID:17389455 20091110 RGD associated with Myocardial Infarction;protein:decreased expression:heart 3858 Thrb thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:7240710 20130221 OMIM 3858 Thrb thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive PMID:1653889|PMID:1682340|PMID:1991834|PMID:22319036|PMID:24393243|PMID:25135573|PMID:26467025|PMID:4163616|PMID:8013151 3858 Thrb thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:7240710 20130221 OMIM 3858 Thrb thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant PMID:10350052|PMID:10487671|PMID:10852467|PMID:10918302|PMID:11167935|PMID:11518118|PMID:1159077|PMID:11701667|PMID:11704998|PMID:11734632|PMID:12201835|PMID:12356724|PMID:12554782|PMID:1314846|PMID:1324420|PMID:1358935|PMID:1400869|PMID:1400873|PMID:15598685|PMID:1563081|PMID:15771554|PMID:15802373|PMID:15815068|PMID:1587388|PMID:16099238|PMID:1619012|PMID:1653889|PMID:1661299|PMID:1677564|PMID:16804041|PMID:1682340|PMID:17610520|PMID:18363280|PMID:1846005|PMID:18844476|PMID:19268523|PMID:19378427|PMID:19439650|PMID:1973914|PMID:1991834|PMID:20050372|PMID:20237409|PMID:21340159|PMID:2153155|PMID:21622532|PMID:21703645|PMID:21760978|PMID:21795843|PMID:21871106|PMID:22319036|PMID:22551329|PMID:22947347|PMID:23457315|PMID:23633200|PMID:23926384|PMID:24174637|PMID:24393243|PMID:24722129|PMID:25040256|PMID:25063548|PMID:2510172|PMID:25135573|PMID:25502991|PMID:2555064|PMID:25738994|PMID:25741868|PMID:25867808|PMID:25905418|PMID:26041374|PMID:26273722|PMID:26425626|PMID:26467025|PMID:27168936|PMID:27980311|PMID:28235578|PMID:28257829|PMID:28492532|PMID:2879243|PMID:28938413|PMID:29262478|PMID:30148208|PMID:30430796|PMID:30497070|PMID:30672388|PMID:30707410|PMID:30976996|PMID:31341516|PMID:32581500|PMID:32635414|PMID:33353459|PMID:33768782|PMID:34382419|PMID:3571851|PMID:7200565|PMID:7528740|PMID:7593433|PMID:7616549|PMID:7833659|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8175986|PMID:8200958|PMID:8319599|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8535442|PMID:8563471|PMID:8664910|PMID:8670802|PMID:8674808|PMID:8786093|PMID:8828460|PMID:8875752|PMID:8889584|PMID:8958790|PMID:9001191|PMID:9086567|PMID:9086569|PMID:9092799|PMID:9100577|PMID:9140079|PMID:9141558|PMID:9315673|PMID:9605924|PMID:9707435|PMID:9804773 3858 Thrb thyroid hormone receptor beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734423 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10660344 3858 Thrb thyroid hormone receptor beta gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734423 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 3859 Thrsp thyroid hormone responsive gene DOID:1059 intellectual disability ISO RGD:734265 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3859 Thrsp thyroid hormone responsive gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:11417 D RGD:13592920 20190221 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 3859 Thrsp thyroid hormone responsive gene DOID:305 carcinoma ISO RGD:734265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3859 Thrsp thyroid hormone responsive gene DOID:630 genetic disease ISO RGD:734265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3859 Thrsp thyroid hormone responsive gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3859 Thrsp thyroid hormone responsive gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 38599146 BN-Aireem1Ang-/- strain DOID:14040 autoimmune polyendocrine syndrome IMP D RGD:38599145|PMID:29959280 20200910 RGD 38599147 SD.BN-Aireem1Ang-/- strain DOID:14040 autoimmune polyendocrine syndrome IMP D RGD:38599145|PMID:29959280 20200910 RGD 38599148 Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang gene DOID:14040 autoimmune polyendocrine syndrome IMP D RGD:38599145|PMID:29959280 20200910 RGD 38599155 BN-Themism1Adej strain DOID:0050589 inflammatory bowel disease IAGP D RGD:38599149|PMID:22275874 20200914 RGD 38599155 BN-Themism1Adej strain DOID:9008671 T-Lymphocytopenia IAGP D RGD:38599149|PMID:22275874 20200914 RGD 38599156 Themism1Adej thymocyte selection associated; mutant1, Adej gene DOID:0050589 inflammatory bowel disease IAGP D RGD:38599149|PMID:22275874 20201210 RGD 38599156 Themism1Adej thymocyte selection associated; mutant1, Adej gene DOID:9008671 T-Lymphocytopenia IAGP D RGD:38599149|PMID:22275874 20201210 RGD 3860 Thy1 Thy-1 cell surface antigen gene DOID:0060017 CD3epsilon deficiency ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:0080690 RASopathy ISO RGD:735861 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:0111971 immunodeficiency 18 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:0111972 immunodeficiency 19 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:0111973 immunodeficiency 17 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 3860 Thy1 Thy-1 cell surface antigen gene DOID:12510 retinal ischemia treatment IEP D RGD:10755711|PMID:23537149 20170724 RGD 3860 Thy1 Thy-1 cell surface antigen gene DOID:5419 schizophrenia ISO RGD:735861 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3860 Thy1 Thy-1 cell surface antigen gene DOID:5679 retinal disease IEP D RGD:5490154|PMID:18836575 20120321 RGD protein:decreased expression:retina 3860 Thy1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:735861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 3860 Thy1 Thy-1 cell surface antigen gene DOID:630 genetic disease ISO RGD:735861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3860 Thy1 Thy-1 cell surface antigen gene DOID:684 hepatocellular carcinoma ISO RGD:735861 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 3860 Thy1 Thy-1 cell surface antigen gene DOID:9004009 Reperfusion Injury ISO RGD:735861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 3860 Thy1 Thy-1 cell surface antigen gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735861 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 3860 Thy1 Thy-1 cell surface antigen gene DOID:9007661 Dwarfism ISO RGD:735861 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 3862 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 3862 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:1540 parathyroid carcinoma ISO RGD:733790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3862 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:630 genetic disease ISO RGD:733790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3862 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3862 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733790 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3863 Timm23 translocase of inner mitochondrial membrane 23 gene DOID:11372 megacolon ISO RGD:732380 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3863 Timm23 translocase of inner mitochondrial membrane 23 gene DOID:630 genetic disease ISO RGD:732380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3863 Timm23 translocase of inner mitochondrial membrane 23 gene DOID:767 muscular atrophy IEP D RGD:13463487|PMID:20943961 20171219 RGD 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:0080490 mucolipidosis type IV ISO RGD:734087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:734087 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:734087 D RGD:13463597|PMID:22003103 20171220 RGD mRNA:decreased expression:retina 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:630 genetic disease ISO RGD:734087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:8947 diabetic retinopathy IEP D RGD:13463597|PMID:22003103 20171220 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:9002514 Neointima treatment ISO RGD:737090 D RGD:13463598|PMID:16186389 20171220 RGD associated with Diabetes Mellitus, Experimental 3864 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13463486|PMID:23255365 20171219 RGD protein:decreased expression:retina 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0060180 colitis ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735741 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:7240710 20130221 OMIM 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735741 D RGD:2290417|PMID:15928670 20080311 RGD mRNA:decreased expression:prostate gland 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:11054 urinary bladder cancer ISO RGD:735741 D RGD:2290411|PMID:18082200 20080311 RGD DNA:hypermethylation:promoter 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:11446 sciatic neuropathy IEP D RGD:151893491|PMID:25484256 20220421 RGD RNA:decreased expression:dorsal root ganglion neuron 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:12930 dilated cardiomyopathy ISS RGD:11419 D RGD:13592920 20180518 MouseDO 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:1395 schistosomiasis ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735741 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased expression:aorta (human) 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735741 D RGD:2290416|PMID:16256342 20080311 RGD 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:2006 preretinal fibrosis ISO RGD:735741 D RGD:2312481|PMID:11004090 20090819 RGD 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:2841 asthma ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma ISO RGD:735741 D RGD:2290409|PMID:18205041 20080311 RGD associated with Tumor Virus Infections;DNA:hypermethylation:promoter 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:735741 D RGD:2290413|PMID:17032447 20080311 RGD protein:decreased expression:breast 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3594 choriocarcinoma ISO RGD:735741 D RGD:2290418|PMID:15507671 20080311 RGD DNA, protein:hypermethylation, decreased expression:promoter, placenta 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3602 toxic encephalopathy ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:365 bladder disease ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735741 D RGD:151708743|PMID:30233216 20220418 RGD 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:735741 D RGD:151708716|PMID:23374247 20220812 RGD mRNA:decreased expression:lung (human) 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:409 liver disease ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:4448 macular degeneration ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:4450 renal cell carcinoma ISO RGD:735741 D RGD:2290421|PMID:11576837 20080312 RGD mRNA:decreased expression:kidney 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:630 genetic disease ISO RGD:735741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:8501 fundus dystrophy ISO RGD:735741 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735741 D RGD:2290437|PMID:12828172 20080312 RGD associated with Breast Neoplasms;mRNA:increased expression:breast 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735741 D RGD:2290419|PMID:15217927 20080311 RGD DNA:hypermethylation:promoter 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002498 Wallerian Degeneration IEP D RGD:1600154|PMID:16683235 20080312 RGD mRNA, protein:increased expression:dorsal root ganglion 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:735741 D RGD:1600153|PMID:9400791 20070228 RGD protein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:735741 D RGD:2290414|PMID:17009974 20080311 RGD protein:increased expression:ovary 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:1559178|PMID:15878627 20070228 RGD protein:increased expression:spinal cord 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:2290412|PMID:17976707 20080311 RGD 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:2290415|PMID:16736496 20080311 RGD DNA:hypermethylation:promoter 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:735741 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2290424|PMID:17551674 20080312 RGD protein:decreased expression:brain 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735741 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23109338 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11419 D RGD:2312482|PMID:8840279 20090819 RGD mRNA:increased expression:glomerulus 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9005930 Endotoxemia IEP D RGD:2290426|PMID:17083784 20080312 RGD 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:735741 D RGD:2290420|PMID:12798711 20080312 RGD protein:increased expression:endometrium 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9008763 Femoral Fractures disease_progression IEP D RGD:151893486|PMID:31691506 20220421 RGD 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735741 D RGD:2312470|PMID:19633828 20090818 RGD mRNA:decreased expression:skeletal muscle 3865 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus disease_progression IEP D RGD:151893486|PMID:31691506 20220421 RGD associated with Femoral Fractures; 3866 Nkx2-1 NK2 homeobox 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:25741868|PMID:28492532 3866 Nkx2-1 NK2 homeobox 1 gene DOID:0050951 hereditary ataxia ISO RGD:732483 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 3866 Nkx2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:7240710 20130425 OMIM 3866 Nkx2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:16220345|PMID:17576681|PMID:19176457|PMID:23379327|PMID:23430038|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25741868|PMID:28492532|PMID:28503612|PMID:29882472|PMID:9536098 3866 Nkx2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease susceptibility ISO RGD:732483 D RGD:1600157|PMID:16220345 20070228 RGD DNA:transition: ; 745C>T 3866 Nkx2-1 NK2 homeobox 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 3866 Nkx2-1 NK2 homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 3866 Nkx2-1 NK2 homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732483 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism 3866 Nkx2-1 NK2 homeobox 1 gene DOID:543 dystonia ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18788921|PMID:24555207|PMID:25741868|PMID:27066577|PMID:28492532 3866 Nkx2-1 NK2 homeobox 1 gene DOID:630 genetic disease ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971878|PMID:15955952|PMID:19336474|PMID:23379327|PMID:24714694|PMID:24930029|PMID:25741868|PMID:26723978|PMID:28492532|PMID:29882472 3866 Nkx2-1 NK2 homeobox 1 gene DOID:850 lung disease ISO RGD:732483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:11073166|PMID:18788921 20170712 RGD DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:12914772|PMID:22825795 20170712 RGD DNA:splice-site mutation:intron:c.464-9C>A (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:12914773|PMID:11971878 20170712 RGD DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732483 D RGD:2290483|PMID:17504987 20080314 RGD DNA:hypermethylation 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:732483 D RGD:2290483|PMID:17504987 20080314 RGD DNA:hypermethylation 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732483 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26723978 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:11073166|PMID:18788921 20170712 RGD DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:12914768|PMID:23911641 20170712 RGD DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:12914769|PMID:23379327 20170712 RGD DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:12914770|PMID:26839702 20170712 RGD DNA:missense mutation exon:p.L224R (c.671T>G) (human) 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:7240710 20130221 OMIM 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:11854318|PMID:11854319|PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:17220277|PMID:17576681|PMID:18788921|PMID:19176457|PMID:19336474|PMID:22825795|PMID:22832740|PMID:23379327|PMID:24453141|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25326635|PMID:25741868|PMID:26640963|PMID:27066577|PMID:28492532|PMID:28588801|PMID:28732825|PMID:29109906|PMID:29538355|PMID:29882472|PMID:30746413|PMID:9536098 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:7240710 20160323 OMIM 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:19176457|PMID:25741868|PMID:28492532 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia IEP D RGD:1600158|PMID:17245593 20070228 RGD mRNA, protein:increased expression:lung 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:732483 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 3866 Nkx2-1 NK2 homeobox 1 gene DOID:9538 multiple myeloma ISO RGD:732483 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 38676450 F344-Phf24em2Kyo strain DOID:1826 epilepsy severity IMP XCO:0000887|XCO:0000888 D RGD:127285809|PMID:31039378 20210701 RGD compared to F344/Stm 3868 Tle4 TLE family member 4, transcriptional corepressor gene DOID:305 carcinoma ISO RGD:733230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3868 Tle4 TLE family member 4, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:733230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3868 Tle4 TLE family member 4, transcriptional corepressor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3868 Tle4 TLE family member 4, transcriptional corepressor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3868 Tle4 TLE family member 4, transcriptional corepressor gene DOID:9007102 Myocardial Ischemia ISO RGD:733230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3869 Tep1 telomerase associated protein 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:736009 D RGD:152977750|PMID:27305982 20220602 RGD DNA:SNPs:introns:rs1713423,rs1760893(human) 3869 Tep1 telomerase associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736009 D RGD:152977753|PMID:10498642 20220602 RGD mRNA:increased expression:hepatocyte,biliary epithelium. 3869 Tep1 telomerase associated protein 1 gene DOID:630 genetic disease ISO RGD:736009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3869 Tep1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736009 D RGD:152975963|PMID:23907815 20220601 RGD associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human) 3869 Tep1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736009 D RGD:152977750|PMID:27305982 20220602 RGD DNA:SNP:intron:rs1760893(human) 3869 Tep1 telomerase associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736009 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11323394 3870 Tlr4 toll-like receptor 4 gene DOID:0050073 invasive aspergillosis susceptibility ISO RGD:737013 D RGD:5130863|PMID:18275280 20140109 RGD DNA:polymorphism:exon:p.D299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737013 D RGD:8552991|PMID:14743629 20140502 RGD mRNA:increased expression:nasal cavity epithelium: 3870 Tlr4 toll-like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737014 D RGD:7800729|PMID:16301373 20140117 RGD associated with Pneumococal Infections; 3870 Tlr4 toll-like receptor 4 gene DOID:0050855 renal fibrosis IMP D RGD:7207895|PMID:22777483 20130212 RGD associated with Ureteral Obstruction 3870 Tlr4 toll-like receptor 4 gene DOID:0060180 colitis IEP D RGD:2312573|PMID:19002562 20090821 RGD protein:increased expression:colon 3870 Tlr4 toll-like receptor 4 gene DOID:0060180 colitis ISO RGD:737014 D RGD:7794773|PMID:19924809 20140110 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:0060189 ileitis IMP D RGD:2312714|PMID:18266231 20140103 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:0060189 ileitis ISO RGD:737014 D RGD:7241089|PMID:17255219 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:0060322 mastoiditis ISO RGD:737013 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 3870 Tlr4 toll-like receptor 4 gene DOID:0060496 respiratory allergy ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10835634 3870 Tlr4 toll-like receptor 4 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:737013 D RGD:7800728|PMID:21704886 20140117 RGD DNA:polymorphisms,haplotype: :−2027A>G, ¿1608T>C(human) 3870 Tlr4 toll-like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737013 D RGD:8552970|PMID:17667620 20140501 RGD mRNA:increased expression:cornea: 3870 Tlr4 toll-like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737014 D RGD:7794851|PMID:17686871 20140114 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:737013 D RGD:7800668|PMID:23691182 20140115 RGD DNA:SNP,haplotype: :896A>G(rs4986790)(human) 3870 Tlr4 toll-like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:7777122|PMID:23301938 20140103 RGD mRNA:increased expression:liver: 3870 Tlr4 toll-like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:737014 D RGD:14700656|PMID:22253482 20190808 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:14700658|PMID:25413054 20190808 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:737013 D RGD:7246906|PMID:19543401 20130621 RGD DNA:snp:cds:p.D299G (human) 3870 Tlr4 toll-like receptor 4 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2312724|PMID:16524509 20090901 RGD mRNA:increased expression:liver 3870 Tlr4 toll-like receptor 4 gene DOID:0081013 severe COVID-19 ISO RGD:737013 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 3870 Tlr4 toll-like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737013 D RGD:8552916|PMID:23372055 20140501 RGD mRNA:increased expression: : 3870 Tlr4 toll-like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737014 D RGD:8552916|PMID:23372055 20140501 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:10223 dermatomyositis ISO RGD:737013 D RGD:7794747|PMID:19953283 20140109 RGD mRNA,protein:increased expression:muscle 3870 Tlr4 toll-like receptor 4 gene DOID:10310 viral meningitis ISO RGD:737014 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 3870 Tlr4 toll-like receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:737013 D RGD:1580682|PMID:16157088 19990101 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:106 pleural tuberculosis ISO RGD:737013 D RGD:4144193|PMID:18295348 20101012 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:737013 D RGD:1580680|PMID:16157451 19990101 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:10690 mastitis IEP D RGD:7777124|PMID:21691936 20140103 RGD mRNA,protein:increased expression:mammary gland: 3870 Tlr4 toll-like receptor 4 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737013 D RGD:7794768|PMID:22831837 20140110 RGD DNA:polymorphism,haplotype:multiple: 3870 Tlr4 toll-like receptor 4 gene DOID:1074 kidney failure IEP D RGD:7241085|PMID:16177646 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:1074 kidney failure ISO RGD:737013 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 3870 Tlr4 toll-like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:7800666|PMID:23380629 20140115 RGD protein:increased expression:middle ear: 3870 Tlr4 toll-like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 3870 Tlr4 toll-like receptor 4 gene DOID:10754 otitis media ISO RGD:737014 D RGD:7777086|PMID:19586996 20140102 RGD associated with Haemophilus Infections; 3870 Tlr4 toll-like receptor 4 gene DOID:10763 hypertension ISO RGD:737013 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:32147540 3870 Tlr4 toll-like receptor 4 gene DOID:10825 essential hypertension ISO RGD:737013 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 3870 Tlr4 toll-like receptor 4 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737013 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 3870 Tlr4 toll-like receptor 4 gene DOID:11054 urinary bladder cancer treatment ISO RGD:737014 D RGD:7240556|PMID:19788935 20130215 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:11121 pulpitis IEP D RGD:7777125|PMID:24267924 20140103 RGD protein:increased expression:ganglion: 3870 Tlr4 toll-like receptor 4 gene DOID:11168 anogenital venereal wart ISO RGD:737013 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 3870 Tlr4 toll-like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737013 D RGD:7794849|PMID:16023216 20140114 RGD mRNA,protein:increased expression:conjunctiva: 3870 Tlr4 toll-like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737014 D RGD:7777131|PMID:21820713 20140103 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737014 D RGD:7794770|PMID:21391988 20140110 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:11396 pulmonary edema ISO RGD:737014 D RGD:4144136|PMID:19376887 20101008 RGD associated with reperfusion injury 3870 Tlr4 toll-like receptor 4 gene DOID:11446 sciatic neuropathy IEP D RGD:7364836|PMID:22173123 20140102 RGD mRNA,protein:increased expression:spinal cord: 3870 Tlr4 toll-like receptor 4 gene DOID:11446 sciatic neuropathy IMP D RGD:7364836|PMID:22173123 20140102 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:737014 D RGD:7815041|PMID:18615568 20140121 RGD mRNA:increased expression:spinal cord: 3870 Tlr4 toll-like receptor 4 gene DOID:11506 suppurative otitis media ISO RGD:737013 D RGD:7800662|PMID:22883581 20140115 RGD mRNA,protein:increased expression:mucosa: 3870 Tlr4 toll-like receptor 4 gene DOID:11823 hepatorenal syndrome IEP D RGD:4144102|PMID:18093430 20101004 RGD mRNA, protein:increased expression:kidney 3870 Tlr4 toll-like receptor 4 gene DOID:1214 tympanosclerosis ISO RGD:737013 D RGD:7800656|PMID:19398177 20140115 RGD DNA:polymorphism:exon:D299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737013 D RGD:7777152|PMID:22429552 20140106 RGD DNA:polymorphism:exon:p.D299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737013 D RGD:4144161|PMID:17709532 20101008 RGD DNA:SNPs:cds:p.D299G, T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737014 D RGD:4889534|PMID:19019963 20101203 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease no_association ISO RGD:737013 D RGD:4144164|PMID:17449325 20101008 RGD DNA:SNP:cds:p.D299G (human) 3870 Tlr4 toll-like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:737013 D RGD:4144167|PMID:17264400 20101008 RGD DNA:polymorphisms:cds:p.D259G, T359I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:13001 carotid stenosis treatment IDA D RGD:7241095|PMID:22167462 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:13078 eumycotic mycetoma ISO RGD:737014 D RGD:7794752|PMID:21205004 20140109 RGD mRNA:decreased expression:footpad: 3870 Tlr4 toll-like receptor 4 gene DOID:13141 uveitis IEP D RGD:2312506|PMID:19347047 20090819 RGD protein:increased expression:iris 3870 Tlr4 toll-like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:7777175|PMID:18234118 20140107 RGD mRNA:increased expression:mononulcear cell: 3870 Tlr4 toll-like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:8552915|PMID:18336589 20140501 RGD mRNA:increased expression:intestine: 3870 Tlr4 toll-like receptor 4 gene DOID:13241 Behcet's disease no_association ISO RGD:737013 D RGD:8552888|PMID:19796535 20140430 RGD DNA:polymorphism: :1896A>G,11196C>T(human) 3870 Tlr4 toll-like receptor 4 gene DOID:13241 Behcet's disease susceptibility ISO RGD:737013 D RGD:7777176|PMID:18408113 20140107 RGD DNA:SNP:3'UTR: rs7037117(human) 3870 Tlr4 toll-like receptor 4 gene DOID:13375 temporal arteritis no_association ISO RGD:737013 D RGD:7777159|PMID:21586524 20140106 RGD DNA:polymorphism: :896A>G,1196C>T(human) 3870 Tlr4 toll-like receptor 4 gene DOID:13375 temporal arteritis susceptibility ISO RGD:737013 D RGD:7777158|PMID:19531762 20140106 RGD DNA:polymorphism: :896A>G(rs4986790)(human) 3870 Tlr4 toll-like receptor 4 gene DOID:13378 Kawasaki disease ISO RGD:737013 D RGD:7777156|PMID:18353240 20140106 RGD mRNA:increased expression:monocyte: 3870 Tlr4 toll-like receptor 4 gene DOID:13544 low tension glaucoma no_association ISO RGD:737013 D RGD:7794769|PMID:21921986 20140110 RGD DNA:polymorphisms:multiple: 3870 Tlr4 toll-like receptor 4 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737013 D RGD:7794768|PMID:22831837 20140110 RGD DNA:polymorphism,haplotype:multiple: 3870 Tlr4 toll-like receptor 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:737013 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 3870 Tlr4 toll-like receptor 4 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:737013 D RGD:7794768|PMID:22831837 20140110 RGD DNA:haplotype:: 3870 Tlr4 toll-like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737013 D RGD:8552823|PMID:17389503 20140429 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737014 D RGD:7794836|PMID:21264236 20140114 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:14484 sporotrichosis ISO RGD:737014 D RGD:7794681|PMID:19740386 20140108 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:1485 cystic fibrosis ISO RGD:737013 D RGD:4144105|PMID:20717938 20101004 RGD protein:increased expression:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:1485 cystic fibrosis severity ISO RGD:737014 D RGD:4144179|PMID:20522639 20101011 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:1495 cystic echinococcosis ISO RGD:737013 D RGD:18182935|PMID:21923667 20200113 RGD mRNA:increased expression:peripheral blood monocyte: 3870 Tlr4 toll-like receptor 4 gene DOID:1612 breast cancer no_association ISO RGD:737013 D RGD:7794746|PMID:19810822 20140109 RGD DNA:SNP: :c.896A>G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:7777160|PMID:23510418 20140106 RGD DNA:polymorphism: :3725G>C(human) 3870 Tlr4 toll-like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:7794753|PMID:22560646 20140109 RGD DNA:polymorphism:exon:p.N299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 3870 Tlr4 toll-like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 3870 Tlr4 toll-like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:7777154|PMID:22552381 20140106 RGD DNA:polymorphisms:exons:p.D299G (896A>G)(human;) 3870 Tlr4 toll-like receptor 4 gene DOID:1936 atherosclerosis ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12124407 3870 Tlr4 toll-like receptor 4 gene DOID:2297 leptospirosis ISO RGD:737014 D RGD:7240557|PMID:19635914 20130215 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:2297 leptospirosis ISO RGD:737014 D RGD:7241090|PMID:16428731 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:2316 brain ischemia no_association ISO RGD:737013 D RGD:1580737|PMID:15258789 20070501 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737013 D RGD:1624159|PMID:16890863 20070503 RGD DNA:SNP: :c.896A>G (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:737013 D RGD:2312575|PMID:18644848 20090821 RGD mRNA:increased expression:cerebrospinal fluid, mononuclear cell 3870 Tlr4 toll-like receptor 4 gene DOID:2773 contact dermatitis ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18725520 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:4144171|PMID:20685742 20101011 RGD DNA:SNPs:: 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:4144190|PMID:19067129 20101012 RGD protein:decreased expression:leukocytes, mononuclear 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma ISO RGD:737014 D RGD:4144141|PMID:19330007 20101008 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma ISO RGD:737014 D RGD:4144176|PMID:20628601 20101011 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma no_association ISO RGD:737013 D RGD:4144188|PMID:19159017 20101012 RGD DNA:SNPs: :rs10983755, rs1927914 (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma severity ISO RGD:737013 D RGD:4144198|PMID:16266379 20101012 RGD DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2841 asthma susceptibility ISO RGD:737013 D RGD:4144817|PMID:15356557 20101015 RGD DNA:Polymorphism:cds:p.D299G (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2913 acute pancreatitis ISO RGD:737014 D RGD:14697701|PMID:18436016 20190802 RGD mRNA,protein:increased expression:liver: 3870 Tlr4 toll-like receptor 4 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:737014 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 3870 Tlr4 toll-like receptor 4 gene DOID:2921 glomerulonephritis ISO RGD:737014 D RGD:4144104|PMID:20844472 20101004 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:2921 glomerulonephritis ISO RGD:737014 D RGD:7241071|PMID:16849506 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737013 D RGD:4144205|PMID:18008256 20101013 RGD protein:increased expression:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:737013 D RGD:4144106|PMID:20403143 20101004 RGD DNA:polymorphisms:cds: p. D299F, T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:737013 D RGD:4144122|PMID:19575238 20101006 RGD DNA:SNP:intron: rs5030729 (human) 3870 Tlr4 toll-like receptor 4 gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:737013 D RGD:7794686|PMID:19445990 20140108 RGD DNA:polymorphism:exon:p.D299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737013 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 3870 Tlr4 toll-like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:7207898|PMID:22655058 20130212 RGD associated with Sepsis 3870 Tlr4 toll-like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:7241084|PMID:16638912 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:3021 acute kidney failure treatment IDA D RGD:6892690|PMID:22266601 20130212 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737013 D RGD:7777133|PMID:20711192 20140103 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737014 D RGD:7794737|PMID:18725520 20140109 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:305 carcinoma ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 3870 Tlr4 toll-like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737013 D RGD:4144145|PMID:19080469 20101008 RGD decreased expression:protein:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737013 D RGD:4144119|PMID:20169003 20101006 RGD DNA:polymorphism:blood cells 3870 Tlr4 toll-like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:7794689|PMID:23821954 20140108 RGD DNA:polymorphism: :896G>A(human) 3870 Tlr4 toll-like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:7794745|PMID:19764566 20140109 RGD mRNA:increased expression:blood cell: 3870 Tlr4 toll-like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 3870 Tlr4 toll-like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:1580736|PMID:15632890 19990101 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:3407 carotid artery disease ISO RGD:737013 D RGD:1580737|PMID:15258789 19990101 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:4144120|PMID:20017955 20101006 RGD associated with acute lung injury 3870 Tlr4 toll-like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:4144177|PMID:20610040 20101011 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 3870 Tlr4 toll-like receptor 4 gene DOID:399 tuberculosis ISO RGD:737014 D RGD:4144821|PMID:12218133 20101015 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:4448 macular degeneration ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829498 3870 Tlr4 toll-like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:7794842|PMID:19628747 20140114 RGD DNA:SNP:: rs4986790(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:7794843|PMID:18172114 20140114 RGD DNA:SNPs: :p.D299G,T399I(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:737013 D RGD:7794837|PMID:15829498 20140114 RGD DNA:polymorphism:exon:p.D299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:7800740|PMID:22577387 20140121 RGD protein:decreased expression:nasal mucosa: 3870 Tlr4 toll-like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:8552993|PMID:22555057 20140502 RGD protein:increased expression:nasal lavage,leukocyte, bone marrow: 3870 Tlr4 toll-like receptor 4 gene DOID:4481 allergic rhinitis no_association ISO RGD:737013 D RGD:4145354|PMID:19763595 20140120 RGD DNA:polymorphism: :4216G>C(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4481 allergic rhinitis severity ISO RGD:737013 D RGD:7800732|PMID:22402138 20140120 RGD DNA:polymorphism:cds:p.D299G(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:737013 D RGD:7800736|PMID:23639307 20140120 RGD DNA:SNP: :rs1927911(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737013 D RGD:7800738|PMID:17069098 20140120 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:7794785|PMID:24074256 20140110 RGD associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human) 3870 Tlr4 toll-like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:8552914|PMID:18398706 20140501 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: 3870 Tlr4 toll-like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:7794779|PMID:19074808 20140110 RGD associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage: 3870 Tlr4 toll-like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:7794845|PMID:19875664 20140114 RGD associated with Eye Infections,Fungal; 3870 Tlr4 toll-like receptor 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 3870 Tlr4 toll-like receptor 4 gene DOID:4989 pancreatitis IEP D RGD:2312507|PMID:19260515 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:4989 pancreatitis ISO RGD:737014 D RGD:4144143|PMID:19201771 20101008 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:5082 liver cirrhosis IEP D RGD:14697732|PMID:27061671 20190805 RGD protein:increased expression:intestine: 3870 Tlr4 toll-like receptor 4 gene DOID:5082 liver cirrhosis treatment IEP D RGD:14700654|PMID:26809353 20190808 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:737013 D RGD:18182934|PMID:20006396 20200113 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:552 pneumonia ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 3870 Tlr4 toll-like receptor 4 gene DOID:552 pneumonia ISO RGD:737014 D RGD:4142858|PMID:20357263 20100914 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:5614 eye disease ISO RGD:737013 D RGD:8552913|PMID:16146574 20140501 RGD mRNA,protein:increased expression:nasal cavity mucosa: 3870 Tlr4 toll-like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:1580734|PMID:15864121 19990101 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:5562819|PMID:18549840 20111123 RGD DNA:SNP:intron:rs1927911, minor allele associated with decreased risk (human) 3870 Tlr4 toll-like receptor 4 gene DOID:630 genetic disease ISO RGD:737013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3870 Tlr4 toll-like receptor 4 gene DOID:6432 pulmonary hypertension ISO RGD:737014 D RGD:4144108|PMID:20205596 20101004 RGD associated anoxia 3870 Tlr4 toll-like receptor 4 gene DOID:6543 acne no_association ISO RGD:737013 D RGD:7794754|PMID:17033191 20140109 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) 3870 Tlr4 toll-like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 3870 Tlr4 toll-like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:14700552|PMID:28578348 20190806 RGD protein:increased expression:liver: 3870 Tlr4 toll-like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:14700557|PMID:25179842 20190806 RGD DNA:SNP: :rs1057317(human) 3870 Tlr4 toll-like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:14700558|PMID:21559380 20190806 RGD DNA:SNPs, haplotype: :multiples 3870 Tlr4 toll-like receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:737013 D RGD:7794744|PMID:20952467 20140109 RGD mRNA:increased expression:blood cell: 3870 Tlr4 toll-like receptor 4 gene DOID:783 end stage renal disease ISO RGD:737013 D RGD:7240546|PMID:20729266 20130215 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:824 periodontitis ISO RGD:737013 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Pericementitis PMID:10835634|PMID:12124407|PMID:15547160|PMID:15829498|PMID:16879199|PMID:17704786|PMID:26079505|PMID:26174031 3870 Tlr4 toll-like receptor 4 gene DOID:848 arthritis susceptibility ISO RGD:737013 D RGD:7777177|PMID:19395541 20140107 RGD associated with Behcet Syndrome;DNA:haplotype: : 3870 Tlr4 toll-like receptor 4 gene DOID:850 lung disease IDA D RGD:2312725|PMID:16286274 20090901 RGD associated with Pancreatitis, Acute Necrotizing 3870 Tlr4 toll-like receptor 4 gene DOID:850 lung disease IEP D RGD:4144082|PMID:19930876 20101001 RGD Acute Lung Injury; mRNA, protein:increased expression:lung 3870 Tlr4 toll-like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:4143249|PMID:20683250 20101004 RGD ventilator-induced lung injury 3870 Tlr4 toll-like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:4144143|PMID:19201771 20101008 RGD lung injury associated with pancreatitis; 3870 Tlr4 toll-like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:4144149|PMID:18827744 20101008 RGD acute lung injury associated with Hemorrhagic shock; mRNA:increased expression:lung 3870 Tlr4 toll-like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:4144789|PMID:15731076 20101014 RGD acute lung injury 3870 Tlr4 toll-like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20090819 RGD mRNA:increased expression:ileum 3870 Tlr4 toll-like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5490305|PMID:21240009 20120321 RGD protein:increased expression:ileum 3870 Tlr4 toll-like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 3870 Tlr4 toll-like receptor 4 gene DOID:869 cholesteatoma ISO RGD:737013 D RGD:7800662|PMID:22883581 20140115 RGD mRNA,protein:increased expression:mucosa: 3870 Tlr4 toll-like receptor 4 gene DOID:874 bacterial pneumonia ISO RGD:737014 D RGD:4144172|PMID:20650991 20101011 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:874 bacterial pneumonia ISO RGD:737014 D RGD:4144197|PMID:16210672 20101012 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:8778 Crohn's disease ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17914947 3870 Tlr4 toll-like receptor 4 gene DOID:8893 psoriasis ISO RGD:737013 D RGD:7777173|PMID:23457721 20140107 RGD mRNA:increased expression:mononuclear cell: 3870 Tlr4 toll-like receptor 4 gene DOID:8927 learning disability ISO RGD:737013 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29107071 3870 Tlr4 toll-like receptor 4 gene DOID:8947 diabetic retinopathy onset ISO RGD:737013 D RGD:2312487|PMID:19135114 20090819 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) 3870 Tlr4 toll-like receptor 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:737014 D RGD:14700556|PMID:25990044 20190806 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737013 D RGD:7794684|PMID:23338716 20140108 RGD associated with Carcinoma, Ductal, Breast; 3870 Tlr4 toll-like receptor 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:737014 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 3870 Tlr4 toll-like receptor 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:737013 D RGD:7777173|PMID:23457721 20140107 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: 3870 Tlr4 toll-like receptor 4 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment IEP D RGD:10402084|PMID:23591781 20151015 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9000310 Lung Injury ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22300504 3870 Tlr4 toll-like receptor 4 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:4144093|PMID:19719951 20101001 RGD mRNA, protein:increased expression:brain 3870 Tlr4 toll-like receptor 4 gene DOID:9000641 Pain IMP D RGD:2312574|PMID:18662331 20090821 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737014 D RGD:4144229|PMID:20007931 20101013 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9000784 Fibrosis ISO RGD:737013 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 3870 Tlr4 toll-like receptor 4 gene DOID:9000843 Acne Conglobata susceptibility ISO RGD:737013 D RGD:7777157|PMID:22085193 20140106 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) 3870 Tlr4 toll-like receptor 4 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:737014 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 3870 Tlr4 toll-like receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 3870 Tlr4 toll-like receptor 4 gene DOID:9000998 Brain Injuries IEP D RGD:2312713|PMID:18316784 20090831 RGD mRNA:increased expression:brain 3870 Tlr4 toll-like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 3870 Tlr4 toll-like receptor 4 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:737013 D RGD:7794852|PMID:21848608 20140114 RGD protein:increased expression:gingiva: 3870 Tlr4 toll-like receptor 4 gene DOID:9001371 Eosinophilia ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 3870 Tlr4 toll-like receptor 4 gene DOID:9001472 Nasal Polyps ISO RGD:737013 D RGD:7800741|PMID:23157229 20140121 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: 3870 Tlr4 toll-like receptor 4 gene DOID:9001552 Acanthamoeba Keratitis IEP D RGD:7777095|PMID:21155840 20140102 RGD mRNA,protein:increased expression:cornea 3870 Tlr4 toll-like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3870 Tlr4 toll-like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:7241092|PMID:22683883 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:737014 D RGD:18182936|PMID:27601294 20200113 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 3870 Tlr4 toll-like receptor 4 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:737014 D RGD:14697700|PMID:25049041 20190802 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:737014 D RGD:7794771|PMID:21031135 20140110 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737013 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27442881 3870 Tlr4 toll-like receptor 4 gene DOID:9001949 Fungal Eye Infections IEP D RGD:2312502|PMID:19474209 20090819 RGD mRNA:increased expression:cornea 3870 Tlr4 toll-like receptor 4 gene DOID:9001981 Weight Loss ISO RGD:737013 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31442584 3870 Tlr4 toll-like receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury IMP D RGD:12910551|PMID:27760212 20170620 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10402078|PMID:21431875 20151015 RGD mRNA:increased expression:liver 3870 Tlr4 toll-like receptor 4 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:14697699|PMID:23395256 20190802 RGD protein:increased expression:membrane raft: 3870 Tlr4 toll-like receptor 4 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:737014 D RGD:14697702|PMID:22797797 20190802 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:14697698|PMID:27064547 20190802 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737014 D RGD:5685379|PMID:21693218 20190808 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737014 D RGD:7207902|PMID:22021706 20130212 RGD associated with Diabetes Mellitus, Experimental 3870 Tlr4 toll-like receptor 4 gene DOID:9002211 Hyperalgesia IMP D RGD:4144070|PMID:20714435 20100930 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737013 D RGD:8553185|PMID:24204973 20140507 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737014 D RGD:7815040|PMID:15809417 20140121 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17301271 3870 Tlr4 toll-like receptor 4 gene DOID:9002498 Wallerian Degeneration ISO RGD:737014 D RGD:2312723|PMID:18003835 20090901 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21616060 3870 Tlr4 toll-like receptor 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2312575|PMID:18644848 20090821 RGD protein:increased expression:spinal cord 3870 Tlr4 toll-like receptor 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:737013 D RGD:7777153|PMID:22672741 20140106 RGD protein:increased expression:oral epithelium: 3870 Tlr4 toll-like receptor 4 gene DOID:9003157 Respiratory Sounds susceptibility ISO RGD:737013 D RGD:5130731|PMID:20085599 20140120 RGD DNA:SNPs::rs11536891,rs11536896,rs11536898(human) 3870 Tlr4 toll-like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:8552886|PMID:23841825 20140430 RGD associated with Pneumococcal Infections; 3870 Tlr4 toll-like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:8662876|PMID:23033384 20140626 RGD associated with Serratia Infections; 3870 Tlr4 toll-like receptor 4 gene DOID:9003870 Herpes Simplex Encephalitis IEP D RGD:5130178|PMID:20806060 20140506 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:2312503|PMID:19473433 20090819 RGD protein:increased expression:liver 3870 Tlr4 toll-like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25780291|PMID:27064547 3870 Tlr4 toll-like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737014 D RGD:4144169|PMID:17126102 20101008 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:737013 D RGD:14700655|PMID:26095186 20190808 RGD protein:increased expression:serum: 3870 Tlr4 toll-like receptor 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:737013 D RGD:14700655|PMID:26095186 20190808 RGD DNA:SNP: :rs2148356(human) 3870 Tlr4 toll-like receptor 4 gene DOID:9004055 Fungal Keratitis ISO RGD:737014 D RGD:7794847|PMID:20617171 20140114 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:7240548|PMID:20642685 20130215 RGD pancreatic islet 3870 Tlr4 toll-like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:7240555|PMID:20038715 20130215 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004484 Sepsis IEP D RGD:2312497|PMID:19489280 20090819 RGD associated with Liver Diseases;mRNA:increased expression:liver 3870 Tlr4 toll-like receptor 4 gene DOID:9004484 Sepsis IEP D RGD:2312732|PMID:14604479 20090901 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004484 Sepsis ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20624996 3870 Tlr4 toll-like receptor 4 gene DOID:9004538 Hearing Loss ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21148032 3870 Tlr4 toll-like receptor 4 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:737013 D RGD:7800663|PMID:22662111 20140115 RGD associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human) 3870 Tlr4 toll-like receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 3870 Tlr4 toll-like receptor 4 gene DOID:9004590 Acute Liver Failure IEP D RGD:4144156|PMID:18070011 20101008 RGD mRNA:increased expression:liver 3870 Tlr4 toll-like receptor 4 gene DOID:9004590 Acute Liver Failure treatment IMP D RGD:14700555|PMID:20546456 20190806 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004610 Acute Lung Injury IEP D RGD:5135496|PMID:19567182 20120322 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9004974 Painful Neuropathy treatment ISO RGD:737014 D RGD:7815041|PMID:18615568 20140121 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9005036 Bacteremia susceptibility ISO RGD:737013 D RGD:4144194|PMID:18180796 20101012 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19925653 3870 Tlr4 toll-like receptor 4 gene DOID:9005269 Stable Angina ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 3870 Tlr4 toll-like receptor 4 gene DOID:9005372 Inflammation ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16651628|PMID:22053092|PMID:22178603|PMID:22300504 3870 Tlr4 toll-like receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312491|PMID:16740310 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737014 D RGD:7794846|PMID:20207969 20140114 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:737014 D RGD:14697731|PMID:23977376 20190805 RGD mRNA:increased expression:liver: 3870 Tlr4 toll-like receptor 4 gene DOID:9005930 Endotoxemia disease_progression ISO RGD:737014 D RGD:14697731|PMID:23977376 20190805 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9005930 Endotoxemia treatment IDA D RGD:7241094|PMID:22172266 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9005941 Rhinosinusitis ISO RGD:737013 D RGD:7800733|PMID:22182736 20140120 RGD mRNA,protein:increased expression:paranasal sinus 3870 Tlr4 toll-like receptor 4 gene DOID:9005968 Neuralgia IEP D RGD:1342461|PMID:15145554 20121214 RGD mRNA:increased expression:lumbar vertebra 3870 Tlr4 toll-like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737014 D RGD:7240552|PMID:20130923 20130215 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737014 D RGD:7241087|PMID:11801667 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:7207892|PMID:23239000 20130212 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:2312677|PMID:18434754 20090828 RGD mRNA:increased expression:multiple tissues 3870 Tlr4 toll-like receptor 4 gene DOID:9006827 Lung Reperfusion Injury treatment IEP D RGD:10402095|PMID:22115333 20151015 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:4144183|PMID:19497921 20101011 RGD protein:decreased expression:neutrophil 3870 Tlr4 toll-like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:4144819|PMID:14738455 20101015 RGD protein:increased expression:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:737014 D RGD:14697697|PMID:29884546 20190802 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:737014 D RGD:14700554|PMID:21463341 20190806 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737013 D RGD:8552969|PMID:20012880 20140501 RGD mRNA,protein:increased expression:cornea: 3870 Tlr4 toll-like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737014 D RGD:7794775|PMID:17065506 20140110 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9007096 Stroke ISO RGD:737013 D RGD:7794781|PMID:20001205 20140110 RGD associated with atherosclerosis;protein:increased expression:endothelial cell: 3870 Tlr4 toll-like receptor 4 gene DOID:9007204 Dysbiosis ISO RGD:737013 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:35390362 3870 Tlr4 toll-like receptor 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury disease_progression IEP D RGD:14697733|PMID:17504260 20190805 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:737014 D RGD:7207900|PMID:22194975 20130212 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:737014 D RGD:7794682|PMID:11884755 20140108 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:1620681|PMID:17426960 20070501 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:2312483|PMID:19675137 20090819 RGD associated with Obesity 3870 Tlr4 toll-like receptor 4 gene DOID:9007692 Insulin Resistance severity ISO RGD:737013 D RGD:2312489|PMID:18633101 20090819 RGD protein:increased expression:skeletal muscle 3870 Tlr4 toll-like receptor 4 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1302746|PMID:14962484 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:737014 D RGD:7794777|PMID:23103505 20140110 RGD protein:increased expression:optic nerve 3870 Tlr4 toll-like receptor 4 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:737013 D RGD:4144192|PMID:18517079 20101012 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737013 D RGD:15090812|PMID:28414577 20191219 RGD protein:increased expression:serum: 3870 Tlr4 toll-like receptor 4 gene DOID:9008212 Diabetic Foot susceptibility ISO RGD:737013 D RGD:7777174|PMID:23936790 20140107 RGD DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); 3870 Tlr4 toll-like receptor 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:22180778 3870 Tlr4 toll-like receptor 4 gene DOID:9008520 Chronic Pain ISO RGD:737013 D RGD:8553185|PMID:24204973 20140507 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9008691 Liver Injury severity ISO RGD:737014 D RGD:14697701|PMID:18436016 20190802 RGD associated with acute pancreatitis; 3870 Tlr4 toll-like receptor 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:737014 D RGD:7364764|PMID:22336013 20130926 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9008865 Entamoebiasis ISO RGD:737014 D RGD:7241086|PMID:15910421 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737014 D RGD:7241088|PMID:19841185 20130226 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:737013 D RGD:7794748|PMID:20493664 20140109 RGD protein:decreased expression:skin: 3870 Tlr4 toll-like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:1580736|PMID:15632890 19990101 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:2312485|PMID:19210958 20090819 RGD protein:increased expression:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:2312484|PMID:19395279 20090819 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:2312680|PMID:19010563 20090828 RGD protein:increased expression:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737014 D RGD:2312492|PMID:16728431 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737013 D RGD:2312494|PMID:14578307 20090819 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:9452 fatty liver disease ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:27022031 3870 Tlr4 toll-like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:4144170|PMID:17053835 20101008 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9675 pulmonary emphysema ISS RGD:737014 D RGD:13592920 20180518 MouseDO OMIM:130700 3870 Tlr4 toll-like receptor 4 gene DOID:9743 diabetic neuropathy IDA D RGD:7777098|PMID:22910613 20140102 RGD associated with Diabetes Mellitus, Experimental; 3870 Tlr4 toll-like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:737013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14693986 3870 Tlr4 toll-like receptor 4 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:737013 D RGD:2312493|PMID:14693986 20090819 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms: :p.N299G, p.T399I (human) 3870 Tlr4 toll-like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737013 D RGD:2312683|PMID:18029454 20090828 RGD protein:increased expression:monocyte 3870 Tlr4 toll-like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737014 D RGD:2312492|PMID:16728431 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9970 obesity IMP D RGD:2312510|PMID:19144836 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9970 obesity ISO RGD:737014 D RGD:2312510|PMID:19144836 20090819 RGD 3870 Tlr4 toll-like receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:737014 D RGD:1620653|PMID:17053832 20070501 RGD 3874 Tmod1 tropomodulin 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 3874 Tmod1 tropomodulin 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 3874 Tmod1 tropomodulin 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 3874 Tmod1 tropomodulin 1 gene DOID:1059 intellectual disability ISO RGD:1605431 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3874 Tmod1 tropomodulin 1 gene DOID:12712 nephronophthisis ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 3874 Tmod1 tropomodulin 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:735256 D RGD:13592920 20180518 MouseDO 3874 Tmod1 tropomodulin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 3874 Tmod1 tropomodulin 1 gene DOID:5119 ovarian cyst ISO RGD:1605431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 3874 Tmod1 tropomodulin 1 gene DOID:630 genetic disease ISO RGD:1605431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3874 Tmod1 tropomodulin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605431 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 3874 Tmod1 tropomodulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 3875 Tmpo thymopoietin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 3875 Tmpo thymopoietin gene DOID:0050700 cardiomyopathy ISO RGD:735785 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 3875 Tmpo thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 3875 Tmpo thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 3875 Tmpo thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:31983221|PMID:9536098 3875 Tmpo thymopoietin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 3875 Tmpo thymopoietin gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:735785 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:16247757|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 3875 Tmpo thymopoietin gene DOID:0110452 dilated cardiomyopathy 1T ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1T PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 3875 Tmpo thymopoietin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735785 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 3875 Tmpo thymopoietin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 3875 Tmpo thymopoietin gene DOID:12930 dilated cardiomyopathy ISO RGD:735785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16247757 3875 Tmpo thymopoietin gene DOID:12930 dilated cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 3875 Tmpo thymopoietin gene DOID:630 genetic disease ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538 3875 Tmpo thymopoietin gene DOID:7148 rheumatoid arthritis ISO RGD:735785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 3875 Tmpo thymopoietin gene DOID:9007102 Myocardial Ischemia ISO RGD:735785 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3876 Tnf tumor necrosis factor gene DOID:0040084 Streptococcus pneumonia ISO RGD:11429 D RGD:40818252|PMID:21887255 20201115 RGD protein:increased expression:lung,natural killer cell (mouse) 3876 Tnf tumor necrosis factor gene DOID:0050117 disease by infectious agent ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 3876 Tnf tumor necrosis factor gene DOID:0050152 aspiration pneumonia IEP D RGD:4142854|PMID:18042282 20100914 RGD protein:increased expression:Bronchoalveolar Lavage Fluid 3876 Tnf tumor necrosis factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344192 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 3876 Tnf tumor necrosis factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1344192 D RGD:7401184|PMID:9852250 20131107 RGD protein:increased expression:blister: 3876 Tnf tumor necrosis factor gene DOID:0050452 mevalonic aciduria ISO RGD:1344192 D RGD:9585642|PMID:7780142 20160105 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1344192 D RGD:9150949|PMID:15223607 20140825 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:0050553 JMP syndrome ISO RGD:1344192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3876 Tnf tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:1344192 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:15086448|PMID:27793764 3876 Tnf tumor necrosis factor gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:11429 D RGD:10450573|PMID:12184521 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1344192 D RGD:10450526|PMID:18205195 20160115 RGD associated with Arthritis, Rheumatoid 3876 Tnf tumor necrosis factor gene DOID:0050685 small cell carcinoma severity ISO RGD:1344192 D RGD:4142840|PMID:8624296 20100914 RGD protein:decreased secretion:whole blood 3876 Tnf tumor necrosis factor gene DOID:0050697 chorioamnionitis no_association ISO RGD:1344192 D RGD:12904055|PMID:15128916 20170516 RGD associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) 3876 Tnf tumor necrosis factor gene DOID:0050697 chorioamnionitis severity ISO RGD:1344192 D RGD:12904055|PMID:15128916 20170516 RGD associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) 3876 Tnf tumor necrosis factor gene DOID:0050700 cardiomyopathy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 3876 Tnf tumor necrosis factor gene DOID:0050700 cardiomyopathy treatment IEP D RGD:10450596|PMID:24441175 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1344192 D RGD:4142857|PMID:14633242 20100914 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1344192 D RGD:4143435|PMID:20846669 20100923 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:1344192 D RGD:4143442|PMID:19022640 20100923 RGD DNA:polymorphism:promoter: c.-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:0050866 oral squamous cell carcinoma disease_progression IEP D RGD:152998999|PMID:33411841 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) 3876 Tnf tumor necrosis factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1344192 D RGD:10059681|PMID:24119107 20150825 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344192 D RGD:10450881|PMID:10697556 20160122 RGD mRNA:increased expression:bone marrow 3876 Tnf tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344192 D RGD:10450530|PMID:15888251 20160115 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:0060180 colitis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 3876 Tnf tumor necrosis factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 3876 Tnf tumor necrosis factor gene DOID:0060224 atrial fibrillation ISO RGD:1344192 D RGD:7401239|PMID:19169931 20131112 RGD associated with Heart Valve Diseases;protein:increased expression:right atrium: 3876 Tnf tumor necrosis factor gene DOID:0060319 cardiac arrest IEP D RGD:4889454|PMID:18679114 20101202 RGD 3876 Tnf tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 3876 Tnf tumor necrosis factor gene DOID:0060496 respiratory allergy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 3876 Tnf tumor necrosis factor gene DOID:0060500 drug allergy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11294926|PMID:20485159 3876 Tnf tumor necrosis factor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:1344192 D RGD:14995307|PMID:9047083 20191018 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:0060903 thrombosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19691487 3876 Tnf tumor necrosis factor gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23627780 3876 Tnf tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:7401196|PMID:10624423 20131107 RGD mRNA:increased expression:cornea 3876 Tnf tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:8157603|PMID:12162877 20140203 RGD 3876 Tnf tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:7394768|PMID:22072377 20131104 RGD 3876 Tnf tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:7394808|PMID:17389501 20131105 RGD mRNA,protein:increased expression:eye: 3876 Tnf tumor necrosis factor gene DOID:0080162 lupus nephritis ISO RGD:1344192 D RGD:7394786|PMID:7750940 20131105 RGD protein:increased expression:glomerular mesangial cell 3876 Tnf tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:14995482|PMID:19034968 20191028 RGD protein:increased expression:serum, liver (rat) 3876 Tnf tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344192 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 3876 Tnf tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1344192 D RGD:14975151|PMID:25894568 20191001 RGD associated with morbid obesity 3876 Tnf tumor necrosis factor gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10450574|PMID:25219124 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:11429 D RGD:127285675|PMID:28100771 20210628 RGD mRNA:increased expression:liver (mouse) 3876 Tnf tumor necrosis factor gene DOID:0080547 non-alcoholic steatohepatitis susceptibility IEP D RGD:21076282|PMID:20606728 20200313 RGD mRNA:increased expression:liver (rat) 3876 Tnf tumor necrosis factor gene DOID:0080599 Coronavirus infectious disease ISO RGD:11429 D RGD:4891446|PMID:19906920 20200617 RGD 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 ISO RGD:1344192 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 ISO RGD:1344192 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 ISO RGD:1344192 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 disease_progression ISO RGD:1344192 D RGD:30296681|PMID:32345579 20200616 RGD associated with diabetes mellitus 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:30309200|PMID:32427582 20200618 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 3876 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11429 D RGD:30309958|PMID:30634407 20200623 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:0080745 polymyositis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 3876 Tnf tumor necrosis factor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:1344192 D RGD:7364926|PMID:12198697 20131018 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) 3876 Tnf tumor necrosis factor gene DOID:0080820 occupational asthma ISO RGD:1344192 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 3876 Tnf tumor necrosis factor gene DOID:0080855 Parkinsonism treatment ISO RGD:11429 D RGD:13503338|PMID:28338241 20180112 RGD 3876 Tnf tumor necrosis factor gene DOID:0080855 Parkinsonism treatment ISO RGD:11429 D RGD:7247422|PMID:21831964 20130711 RGD 3876 Tnf tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:12904066|PMID:16191343 20170516 RGD DNA:SNP:promoter:-863C>A (human) 3876 Tnf tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:7794734|PMID:8444271 20140108 RGD 3876 Tnf tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344192 D RGD:7365073|PMID:15219383 20131017 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) 3876 Tnf tumor necrosis factor gene DOID:0081292 traumatic brain injury ISO RGD:1344192 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 3876 Tnf tumor necrosis factor gene DOID:0110429 dilated cardiomyopathy 1H severity ISO RGD:1344192 D RGD:7401234|PMID:14676433 20131112 RGD 3876 Tnf tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:7387303|PMID:16988499 20131029 RGD 3876 Tnf tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:7394704|PMID:23165380 20131030 RGD 3876 Tnf tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:8142347|PMID:19684145 20140130 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:10140 dry eye syndrome treatment ISO RGD:11429 D RGD:8694422|PMID:23211823 20140805 RGD 3876 Tnf tumor necrosis factor gene DOID:10223 dermatomyositis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 3876 Tnf tumor necrosis factor gene DOID:1024 leprosy susceptibility ISO RGD:1344192 D RGD:8694069|PMID:20650301 20140723 RGD DNA:SNP:promoter:−308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:10241 thalassemia ISO RGD:1344192 D RGD:10450569|PMID:11732868 20160118 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:10247 pleurisy IDA D RGD:4142808|PMID:20141620 20120322 RGD 3876 Tnf tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:11429 D RGD:4143474|PMID:11161459 20100924 RGD 3876 Tnf tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:1344192 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:15380531 3876 Tnf tumor necrosis factor gene DOID:10283 prostate cancer ISO RGD:1344192 D RGD:2315114|PMID:19851870 20091218 RGD 3876 Tnf tumor necrosis factor gene DOID:10320 asbestosis ISO RGD:1344192 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:8473757|PMID:20486865 3876 Tnf tumor necrosis factor gene DOID:10322 berylliosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8428540|PMID:12449171|PMID:15127972|PMID:16980557 3876 Tnf tumor necrosis factor gene DOID:10325 silicosis ISO RGD:1344192 D RGD:4142816|PMID:11264025 20100913 RGD DNA:polymorphisms: : 3876 Tnf tumor necrosis factor gene DOID:10325 silicosis treatment IEP D RGD:10450591|PMID:25199287 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:10327 anthracosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 3876 Tnf tumor necrosis factor gene DOID:10533 viral pneumonia treatment ISO RGD:11429 D RGD:10450576|PMID:25219125 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:10591 pre-eclampsia ISO RGD:1344192 D RGD:1580314|PMID:15901845 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:10591 pre-eclampsia ameliorates IEP D RGD:213230155|PMID:31203154 20230323 RGD 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:13825248|PMID:18992723 20181203 RGD protein:increased secretion:serum: 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:13825250|PMID:16908746 20181203 RGD DNA:haploltype:promoter:-863A>C,-308G>A(human) 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:13825255|PMID:9772027 20181204 RGD protein:decreased expression:brain: 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:1580320|PMID:12962917 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:8554872 20150714 ClinVar ClinVar Annotator: match by term: Alzheimer disease, protection against PMID:10400991|PMID:16908746 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:13825256|PMID:15468911 20181204 RGD DNA:polymorphism:promoter:-308G>A(human) 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:13825257|PMID:18834925 20181204 RGD DNA:polymorphism:promoter:multiple(human) 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease onset ISO RGD:1344192 D RGD:13825253|PMID:16516271 20181204 RGD DNA:polymorphism:promoter:-308G>A(human) 3876 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1344192 D RGD:13825248|PMID:18992723 20181203 RGD DNA:polymorphism:promoter:-308G>A(human) 3876 Tnf tumor necrosis factor gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1344192 D RGD:7387247|PMID:20357201 20131024 RGD DNA:SNP: :-308G>A(rs1800629)(human) 3876 Tnf tumor necrosis factor gene DOID:1070 primary open angle glaucoma ISO RGD:1344192 D RGD:7775041|PMID:15557444 20131231 RGD DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) 3876 Tnf tumor necrosis factor gene DOID:1073 renal hypertension IEP D RGD:6907405|PMID:22188107 20130723 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:10754 otitis media IEP D RGD:4891398|PMID:18524391 20110112 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear 3876 Tnf tumor necrosis factor gene DOID:10754 otitis media IEP D RGD:7401215|PMID:22173336 20131108 RGD 3876 Tnf tumor necrosis factor gene DOID:10754 otitis media ISO RGD:11429 D RGD:7394703|PMID:21818352 20131030 RGD protein:increased expression:ear: 3876 Tnf tumor necrosis factor gene DOID:10762 portal hypertension IEP D RGD:14688051|PMID:9834372 20190606 RGD mRNA:increased expression:stomach (rat) 3876 Tnf tumor necrosis factor gene DOID:10762 portal hypertension IEP D RGD:14995426|PMID:9198288 20191023 RGD mRNA:increased expression:stomach (rat) 3876 Tnf tumor necrosis factor gene DOID:10762 portal hypertension treatment IMP D RGD:14975128|PMID:7875478 20190927 RGD 3876 Tnf tumor necrosis factor gene DOID:10762 portal hypertension treatment IMP D RGD:14985259|PMID:9537427 20191015 RGD 3876 Tnf tumor necrosis factor gene DOID:10762 portal hypertension treatment IMP D RGD:14995425|PMID:10070045 20191023 RGD 3876 Tnf tumor necrosis factor gene DOID:10763 hypertension IAGP D RGD:1357163|PMID:9590569 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540 3876 Tnf tumor necrosis factor gene DOID:10763 hypertension treatment IMP D RGD:1580207|PMID:16415373 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:10808 gastric ulcer ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15138204 3876 Tnf tumor necrosis factor gene DOID:10825 essential hypertension ISO RGD:1344192 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 3876 Tnf tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:10449460|PMID:8140855 20160105 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 3876 Tnf tumor necrosis factor gene DOID:10941 intracranial aneurysm treatment IMP D RGD:10450592|PMID:24628611 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:1344192 D RGD:7364848|PMID:21311206 20140128 RGD associated with Otitis Media;protein:increased expression:ear: 3876 Tnf tumor necrosis factor gene DOID:11054 urinary bladder cancer ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1674182 3876 Tnf tumor necrosis factor gene DOID:1115 sarcoma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9794839|PMID:15675481|PMID:16767912|PMID:17203757 3876 Tnf tumor necrosis factor gene DOID:11168 anogenital venereal wart ISO RGD:1344192 D RGD:40400714|PMID:23754510 20201103 RGD protein:increased expression:peripheral blood mononuclear cells (human) 3876 Tnf tumor necrosis factor gene DOID:1123 spondyloarthropathy ISS RGD:11429 D RGD:13592920 20180906 MouseDO OMIM:106300 3876 Tnf tumor necrosis factor gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1344192 D RGD:10450536|PMID:16518755 20160115 RGD associated with Hemorrhagic Fever, Crimean 3876 Tnf tumor necrosis factor gene DOID:11263 chlamydia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 3876 Tnf tumor necrosis factor gene DOID:11265 trachoma ISO RGD:1344192 D RGD:8548830|PMID:17330135 20140321 RGD DNA:SNP, haplotypes:promoter:−308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:11372 megacolon ISO RGD:1344192 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 3876 Tnf tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:4143247|PMID:16135717 20100921 RGD associated lung injury; DNA:polymorphism:promoter: 3876 Tnf tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:5128683|PMID:21062445 20101122 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:11429 D RGD:4142833|PMID:9628235 20100914 RGD protein:increased expression:Bronchoalveolar Lavage Fluid 3876 Tnf tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21188088|PMID:34390737 3876 Tnf tumor necrosis factor gene DOID:11446 sciatic neuropathy treatment IEP D RGD:7364836|PMID:22173123 20131108 RGD 3876 Tnf tumor necrosis factor gene DOID:11573 listeriosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16751399 3876 Tnf tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia no_association ISO RGD:1344192 D RGD:12904049|PMID:15286263 20170516 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:1344192 D RGD:12904049|PMID:15286263 20170516 RGD DNA:SNP:promoter:-238A>G (human) 3876 Tnf tumor necrosis factor gene DOID:11656 cicatricial pemphigoid ISO RGD:1344192 D RGD:7394786|PMID:7750940 20131105 RGD protein:increased expression:Conjunctiva: 3876 Tnf tumor necrosis factor gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1344192 D RGD:2313255|PMID:18575614 20090915 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:11758 iron deficiency anemia ISO RGD:1344192 D RGD:10450563|PMID:18716131 20160118 RGD DNA:SNP:promoter:rs1800629 (human) 3876 Tnf tumor necrosis factor gene DOID:11823 hepatorenal syndrome IEP D RGD:4144102|PMID:18093430 20101004 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:11832 visual epilepsy IDA D RGD:7245573|PMID:23333565 20130611 RGD 3876 Tnf tumor necrosis factor gene DOID:11963 esophagitis susceptibility ISO RGD:1344192 D RGD:5131286|PMID:20811626 20100909 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) 3876 Tnf tumor necrosis factor gene DOID:1205 allergic disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 3876 Tnf tumor necrosis factor gene DOID:12098 trigeminal neuralgia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 3876 Tnf tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:14995307|PMID:9047083 20191018 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:38501106|PMID:17158635 20200818 RGD mRNA:increased expression:liver 3876 Tnf tumor necrosis factor gene DOID:12241 beta thalassemia ISO RGD:1344192 D RGD:10449458|PMID:19103526 20160105 RGD DNA:polymorphisms:3' utr 3876 Tnf tumor necrosis factor gene DOID:1227 neutropenia ISO RGD:1344192 D RGD:1580321|PMID:15986200 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1344192 D RGD:8142356|PMID:21334264 20140130 RGD associated with uveitis;protein:increased expression:aqueous humor: 3876 Tnf tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 3876 Tnf tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:7794736|PMID:16911396 20140108 RGD protein:increased expression:skin 3876 Tnf tumor necrosis factor gene DOID:12351 alcoholic hepatitis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 3876 Tnf tumor necrosis factor gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 3876 Tnf tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:7365073|PMID:15219383 20131017 RGD DNA:SNP: :-308G>A(rs1800629)(human) 3876 Tnf tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:7394790|PMID:17348243 20131105 RGD DNA:polymorphism: :-863A>C 3876 Tnf tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:7394807|PMID:19732761 20131105 RGD DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human) 3876 Tnf tumor necrosis factor gene DOID:12365 malaria ISO RGD:1344192 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3876 Tnf tumor necrosis factor gene DOID:12365 malaria ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to PMID:10369255|PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 3876 Tnf tumor necrosis factor gene DOID:12365 malaria susceptibility ISO RGD:1344192 D RGD:1624967|PMID:10369255 20070514 RGD DNA:polymorphism:promoter:-376G>A 3876 Tnf tumor necrosis factor gene DOID:12365 malaria susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 3876 Tnf tumor necrosis factor gene DOID:12449 aplastic anemia ISO RGD:1344192 D RGD:10449452|PMID:12941546 20160105 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:12549 hepatitis A ISO RGD:1344192 D RGD:14995307|PMID:9047083 20191018 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 3876 Tnf tumor necrosis factor gene DOID:12662 paracoccidioidomycosis susceptibility ISO RGD:1344192 D RGD:7401182|PMID:17145373 20131107 RGD DNA:SNP:promoter:−308G>A(human) 3876 Tnf tumor necrosis factor gene DOID:12678 hypercalcemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 3876 Tnf tumor necrosis factor gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1344192 D RGD:10450733|PMID:16611101 20160120 RGD protein:decreased expression:blood, lymphocyte 3876 Tnf tumor necrosis factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11429 D RGD:4145715|PMID:15791294 20101112 RGD protein:increased expression:Bronchoalveolar lavage fluid 3876 Tnf tumor necrosis factor gene DOID:12732 intermediate uveitis ISO RGD:1344192 D RGD:7365041|PMID:23378732 20131016 RGD DNA:SNPs: :rs361525,rs1800629(human) 3876 Tnf tumor necrosis factor gene DOID:12783 migraine without aura ISO RGD:1344192 D RGD:1580316|PMID:14718719 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:12800 mucopolysaccharidosis VI treatment IEP D RGD:39131283|PMID:21887218 20201019 RGD 3876 Tnf tumor necrosis factor gene DOID:12849 autistic disorder treatment ISO RGD:1344192 D RGD:12792236|PMID:26418275 20170313 RGD 3876 Tnf tumor necrosis factor gene DOID:12894 Sjogren's syndrome ISO RGD:1344192 D RGD:7394766|PMID:22703762 20131104 RGD DNA:polymorphism: :-1031T>C(human) 3876 Tnf tumor necrosis factor gene DOID:12894 Sjogren's syndrome treatment IEP D RGD:10450595|PMID:24941846 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1344192 D RGD:7829756|PMID:10487957 20140123 RGD associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: 3876 Tnf tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1344192 D RGD:7401238|PMID:14984724 20131112 RGD protein:increased expression:plasma: 3876 Tnf tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISS RGD:11429 D RGD:13592920 20180518 MouseDO 3876 Tnf tumor necrosis factor gene DOID:13088 periventricular leukomalacia IDA D RGD:1580604|PMID:15765524 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:1344192 D RGD:12904655|PMID:8652010 20170517 RGD 3876 Tnf tumor necrosis factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:11429 D RGD:7245511|PMID:21221075 20130607 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:13141 uveitis IEP D RGD:7401166|PMID:8125721 20131106 RGD 3876 Tnf tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:7387294|PMID:15209464 20131028 RGD associated with Behcet Syndrome; protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:7394761|PMID:20673052 20131104 RGD 3876 Tnf tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:7401178|PMID:1318867 20131106 RGD 3876 Tnf tumor necrosis factor gene DOID:13141 uveitis disease_progression ISO RGD:1344192 D RGD:7394806|PMID:11586057 20131105 RGD protein:increased expression:serum,Aqueous Humor: 3876 Tnf tumor necrosis factor gene DOID:13141 uveitis treatment IEP D RGD:13825264|PMID:19440225 20181205 RGD 3876 Tnf tumor necrosis factor gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:11429 D RGD:7794730|PMID:8699818 20140108 RGD 3876 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:12904036|PMID:12632436 20170515 RGD DNA:SNP:promoter 3876 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:7394759|PMID:20601837 20131104 RGD 3876 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:7401213|PMID:14600787 20131107 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:8142356|PMID:21334264 20140130 RGD associated with Uveitis;protein:increased expression:aqueous humor: 3876 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:12904040|PMID:15875188 20170516 RGD DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) 3876 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:12904048|PMID:12770792 20170516 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:13258 typhoid fever susceptibility ISO RGD:1344192 D RGD:36049756|PMID:11120931 20200716 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) 3876 Tnf tumor necrosis factor gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1344192 D RGD:4145765|PMID:20416219 20101115 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease ISO RGD:1344192 D RGD:1580318|PMID:14703611 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease ISO RGD:1344192 D RGD:7401221|PMID:8777922 20131108 RGD 3876 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1344192 D RGD:9495921|PMID:18710885 20140917 RGD DNA:SNP: :-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease treatment ISO RGD:1344192 D RGD:7401183|PMID:14744383 20131107 RGD 3876 Tnf tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:4143236|PMID:20070603 20100920 RGD DNA:polymorphism:promoter 3876 Tnf tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:4143466|PMID:15653992 20100924 RGD 3876 Tnf tumor necrosis factor gene DOID:13413 hepatic encephalopathy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9696492|PMID:16338762 3876 Tnf tumor necrosis factor gene DOID:13452 scleritis ISO RGD:1344192 D RGD:7394776|PMID:23177360 20131104 RGD 3876 Tnf tumor necrosis factor gene DOID:13544 low tension glaucoma ISO RGD:1344192 D RGD:7775041|PMID:15557444 20131231 RGD DNA:polymorphism, haplotype:promoter: -863C>A (human) 3876 Tnf tumor necrosis factor gene DOID:13580 cholestasis ISO RGD:1344192 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 3876 Tnf tumor necrosis factor gene DOID:13619 extrahepatic cholestasis ISO RGD:1344192 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 3876 Tnf tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:10450524|PMID:8438880 20160115 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:11049161|PMID:24021704 20160405 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22628295 3876 Tnf tumor necrosis factor gene DOID:13677 SAPHO syndrome ISO RGD:1344192 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:27108452 3876 Tnf tumor necrosis factor gene DOID:13949 interstitial cystitis treatment ISO RGD:11429 D RGD:7245525|PMID:16622179 20130610 RGD 3876 Tnf tumor necrosis factor gene DOID:13976 peptic esophagitis IDA D RGD:1580209|PMID:15942680 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 3876 Tnf tumor necrosis factor gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:1344192 D RGD:10450571|PMID:1984482 20160118 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:1407 anterior uveitis ISO RGD:1344192 D RGD:8548818|PMID:15851552 20140320 RGD DNA:SNP, haplotype:promoter:-857 C>T (human) 3876 Tnf tumor necrosis factor gene DOID:14115 toxic shock syndrome IEP D RGD:1598936|PMID:12622907 20190726 RGD protein:increased expression:peritoneal macrophage, cell surface (rat) 3876 Tnf tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20054000 3876 Tnf tumor necrosis factor gene DOID:14115 toxic shock syndrome treatment IEP D RGD:10449465|PMID:2213560 20160105 RGD 3876 Tnf tumor necrosis factor gene DOID:14330 Parkinson's disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 3876 Tnf tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:4143374|PMID:11179110 20100922 RGD DNA:polymorphism:promoter 3876 Tnf tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:4143375|PMID:8466130 20100922 RGD protein:increased secretion:macrophage 3876 Tnf tumor necrosis factor gene DOID:14550 root resorption IEP D RGD:13825431|PMID:22372265 20181205 RGD 3876 Tnf tumor necrosis factor gene DOID:1468 labyrinthitis ISO RGD:11429 D RGD:7394706|PMID:12943369 20131030 RGD protein:increased expression: cochleas, endolymphatic sac: 3876 Tnf tumor necrosis factor gene DOID:1485 cystic fibrosis ISO RGD:1344192 D RGD:4142846|PMID:7537567 20100914 RGD protein:increased expression:sputum 3876 Tnf tumor necrosis factor gene DOID:1485 cystic fibrosis severity ISO RGD:1344192 D RGD:6767553|PMID:21993476 20130628 RGD DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human) 3876 Tnf tumor necrosis factor gene DOID:1555 urticaria ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12121561|PMID:19250144|PMID:20485159 3876 Tnf tumor necrosis factor gene DOID:1579 respiratory system disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22414385 3876 Tnf tumor necrosis factor gene DOID:1588 thrombocytopenia ISO RGD:1344192 D RGD:10449459|PMID:16987073 20160105 RGD associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) 3876 Tnf tumor necrosis factor gene DOID:1588 thrombocytopenia severity ISO RGD:735591|RGD:1344192|RGD:1352582 D RGD:11041893|PMID:25128199 20160401 RGD associated with Malaria, Vivax 3876 Tnf tumor necrosis factor gene DOID:1612 breast cancer ISO RGD:1344192 D RGD:2315111|PMID:19967414 20091218 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:8548779|PMID:17216494 20140319 RGD DNA:SNPs: :multiple 3876 Tnf tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:8548791|PMID:11841482 20140319 RGD DNA:SNPs:promoter:multiple 3876 Tnf tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:8548779|PMID:17216494 20140319 RGD DNA:SNP: :rs361525 (human) 3876 Tnf tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:8548786|PMID:18409070 20140319 RGD DNA:polymorphism, haplotype:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:1679 cystitis IEP D RGD:6907118|PMID:11948286 20100920 RGD mRNA:increased expression:urinary bladder 3876 Tnf tumor necrosis factor gene DOID:1686 glaucoma IEP D RGD:7394760|PMID:20574020 20131104 RGD protein:increased expression:retina 3876 Tnf tumor necrosis factor gene DOID:1686 glaucoma IMP D RGD:7394770|PMID:22802951 20131104 RGD 3876 Tnf tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:7394760|PMID:20574020 20131104 RGD protein:increased expression:retina 3876 Tnf tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:7394785|PMID:17151265 20131105 RGD 3876 Tnf tumor necrosis factor gene DOID:1712 aortic valve stenosis ISS RGD:11429 D RGD:13592920 20180906 MouseDO OMIM:109730 | OMIM:614823 3876 Tnf tumor necrosis factor gene DOID:178 vascular disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 3876 Tnf tumor necrosis factor gene DOID:1793 pancreatic cancer ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16211219 3876 Tnf tumor necrosis factor gene DOID:182 calcinosis ISO RGD:1344192 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 3876 Tnf tumor necrosis factor gene DOID:1824 status epilepticus IEP D RGD:4143383|PMID:20649973 20100922 RGD protein:increased expression:brain 3876 Tnf tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 3876 Tnf tumor necrosis factor gene DOID:1826 epilepsy IEP D RGD:13524859|PMID:28303499 20180501 RGD protein:increased expression:brain,plasma 3876 Tnf tumor necrosis factor gene DOID:1875 impotence treatment IEP D RGD:9495931|PMID:24467772 20160119 RGD associated with Diabetes Mellitus, Type 2 3876 Tnf tumor necrosis factor gene DOID:1909 melanoma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9794839|PMID:9843018|PMID:10379864|PMID:18388930 3876 Tnf tumor necrosis factor gene DOID:1926 Gaucher's disease severity ISO RGD:1344192 D RGD:12904037|PMID:15919211 20170515 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:11429 D RGD:7401235|PMID:15823270 20131112 RGD 3876 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 3876 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis ameliorates ISO RGD:11429 D RGD:242905195|PMID:35854140 20230328 RGD 3876 Tnf tumor necrosis factor gene DOID:2018 hyperinsulinism ISO RGD:1344192 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 3876 Tnf tumor necrosis factor gene DOID:2030 anxiety disorder ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 3876 Tnf tumor necrosis factor gene DOID:2043 hepatitis B no_association ISO RGD:1344192 D RGD:14975150|PMID:27644568 20191001 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) 3876 Tnf tumor necrosis factor gene DOID:2043 hepatitis B severity ISO RGD:1344192 D RGD:14995438|PMID:12915457 20191024 RGD DNA:SNPs:promoter:-863C>A, -308A>G (human) 3876 Tnf tumor necrosis factor gene DOID:2043 hepatitis B treatment ISO RGD:1344192 D RGD:14975150|PMID:27644568 20191001 RGD DNA:SNP:promoter:-857C>T (rs1799724) (human) 3876 Tnf tumor necrosis factor gene DOID:2048 autoimmune hepatitis ISO RGD:1344192 D RGD:14995307|PMID:9047083 20191018 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:224 transient cerebral ischemia IEP D RGD:13825263|PMID:11412877 20181205 RGD mRNA:increased expression:striatum,hippocampus: 3876 Tnf tumor necrosis factor gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7364868|PMID:24053818 20131003 RGD 3876 Tnf tumor necrosis factor gene DOID:2280 hidradenitis suppurativa ISO RGD:1344192 D RGD:7777155|PMID:23106544 20140106 RGD DNA:polymorphism,haplotype:promoter:-238G>A(human) 3876 Tnf tumor necrosis factor gene DOID:2316 brain ischemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15756928 3876 Tnf tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16793930 3876 Tnf tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:12904050|PMID:16793930 20170516 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:12904656|PMID:11389006 20170517 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) 3876 Tnf tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:10450570|PMID:14613268 20160118 RGD associated with Arthritis, Rheumatoid 3876 Tnf tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:10450888|PMID:2324681 20160122 RGD associated with HIV Infections;protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16566752 3876 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis ISO RGD:1344192 D RGD:12904068|PMID:8887999 20170516 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis ISS RGD:11429 D RGD:13592920 20180518 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 3876 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344192 D RGD:7401237|PMID:8964914 20131112 RGD 3876 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis no_association ISO RGD:1344192 D RGD:12904657|PMID:9270614 20170517 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1344192 D RGD:2315115|PMID:19825522 20091218 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:2556 relapsing polychondritis ISO RGD:11429 D RGD:6483833|PMID:17606507 20140130 RGD protein:increased expression:ear 3876 Tnf tumor necrosis factor gene DOID:2671 transitional cell carcinoma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3361654 3876 Tnf tumor necrosis factor gene DOID:2723 dermatitis ISO RGD:1344192 D RGD:7394823|PMID:3171214 20131105 RGD 3876 Tnf tumor necrosis factor gene DOID:2741 bilirubin metabolic disorder ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 3876 Tnf tumor necrosis factor gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1344192 D RGD:10450731|PMID:7640175 20160120 RGD associated with HIV Infections 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:11429 D RGD:4145508|PMID:16393274 20101108 RGD 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12356572|PMID:14681301|PMID:16456144|PMID:17450233|PMID:20049212 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:4142802|PMID:18763028 20100910 RGD DNA:polymorphisms: : 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:4143240|PMID:18811622 20100920 RGD DNA:polymorphisms:: rs1799964, rs1799724 (human) 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:4143369|PMID:20465535 20100922 RGD associated with nasal polys; protein:increased expression:nose 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:4143372|PMID:16728705 20100922 RGD DNA:polymorphism:promoter:c.-863C > A (human) 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:4143443|PMID:18711258 20100923 RGD DNA:polymorphism:promoter: c. -308A>G (human) 3876 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 3876 Tnf tumor necrosis factor gene DOID:2841 asthma no_association ISO RGD:1344192 D RGD:4143254|PMID:12530118 20100921 RGD DNA:polymorphism:promoter: 3876 Tnf tumor necrosis factor gene DOID:2841 asthma susceptibility ISO RGD:1344192 D RGD:4143238|PMID:19196817 20100920 RGD associated with obesity; DNA:polymorphism:promoter 3876 Tnf tumor necrosis factor gene DOID:2841 asthma susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 3876 Tnf tumor necrosis factor gene DOID:289 endometriosis IEP D RGD:10395305|PMID:23427178 20150901 RGD protein:increased expression:peritoneal fluid 3876 Tnf tumor necrosis factor gene DOID:289 endometriosis ISO RGD:1344192 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 3876 Tnf tumor necrosis factor gene DOID:289 endometriosis treatment IDA D RGD:7247423|PMID:21741153 20130711 RGD 3876 Tnf tumor necrosis factor gene DOID:2917 cryoglobulinemia ISO RGD:1344192 D RGD:10450529|PMID:19860001 20160115 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:2921 glomerulonephritis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9403216|PMID:10910440 3876 Tnf tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:30309961|PMID:14514395 20200623 RGD protein:increased expression:plasma (human) 3876 Tnf tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:34201108|PMID:15888207 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) 3876 Tnf tumor necrosis factor gene DOID:2957 pulmonary tuberculosis ISO RGD:11429 D RGD:4142835|PMID:9176116 20100914 RGD 3876 Tnf tumor necrosis factor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1344192 D RGD:4143395|PMID:18212516 20100922 RGD 3876 Tnf tumor necrosis factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1344192 D RGD:4143388|PMID:20650298 20100922 RGD DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) 3876 Tnf tumor necrosis factor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1344192 D RGD:6909132|PMID:9844059 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:299 adenocarcinoma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1733439|PMID:19028472 3876 Tnf tumor necrosis factor gene DOID:3021 acute kidney failure ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16595132|PMID:18460982|PMID:20623750 3876 Tnf tumor necrosis factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:11429 D RGD:7245548|PMID:21150875 20130610 RGD 3876 Tnf tumor necrosis factor gene DOID:3042 allergic contact dermatitis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15849067 3876 Tnf tumor necrosis factor gene DOID:3070 high grade glioma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22199285 3876 Tnf tumor necrosis factor gene DOID:3070 high grade glioma treatment ISO RGD:1344192 D RGD:10450725|PMID:11810046 20160120 RGD 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:29497291|PMID:34652871 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:4143270|PMID:8564092 20100921 RGD protein:increased expression:sputum 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:4143272|PMID:20500811 20100921 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:4143273|PMID:20352242 20100921 RGD DNA:SNPs:promoter 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:4143421|PMID:12537602 20100923 RGD DNA:polymorphism: :c. 489G>A (human) 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:4143424|PMID:11179116 20100923 RGD DNA:polymorphism:promoter 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1344192 D RGD:4143391|PMID:20299531 20100922 RGD DNA;polymorphism: :rs361525 (human) 3876 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344192 D RGD:4145714|PMID:15820084 20101112 RGD DNA:SNP:promoter:c.-308 G>A (human) 3876 Tnf tumor necrosis factor gene DOID:3213 demyelinating disease treatment ISO RGD:11429 D RGD:12904647|PMID:7479982 20170517 RGD 3876 Tnf tumor necrosis factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1344192 D RGD:7401246|PMID:22533231 20131112 RGD DNA:haplotype:promoter:−308G>A,-238G>A(human) 3876 Tnf tumor necrosis factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:11429 D RGD:12904653|PMID:13678668 20170517 RGD protein:increased expression:spinal cord 3876 Tnf tumor necrosis factor gene DOID:3393 coronary artery disease ISO RGD:1344192 D RGD:1626412|PMID:15059615 20070807 RGD 3876 Tnf tumor necrosis factor gene DOID:3454 brain infarction IEP D RGD:2325193|PMID:19895873 20230215 RGD protein:increased expression:brain (rat) 3876 Tnf tumor necrosis factor gene DOID:3458 breast adenocarcinoma ISO RGD:1344192 D RGD:14995452|PMID:12536235 20191024 RGD human protein in a rat model 3876 Tnf tumor necrosis factor gene DOID:3492 mixed connective tissue disease ISO RGD:1344192 D RGD:8142347|PMID:19684145 20140130 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction IMP D RGD:13825261|PMID:15647744 20181205 RGD 3876 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates IEP D RGD:242905190|PMID:35322553 20230327 RGD 3876 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:11429 D RGD:242905192|PMID:28630232 20230327 RGD 3876 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10450594|PMID:24916922 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13792833|PMID:29498696 20181002 RGD 3876 Tnf tumor necrosis factor gene DOID:3526 cerebral infarction ISO RGD:1344192 D RGD:1580315|PMID:16173529 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:3526 cerebral infarction treatment ISO RGD:11429 D RGD:155260331|PMID:29111308 20220930 RGD 3876 Tnf tumor necrosis factor gene DOID:37 skin disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3876 Tnf tumor necrosis factor gene DOID:37 skin disease severity ISO RGD:1344192 D RGD:7364846|PMID:21357384 20131003 RGD associated with Arsenic Poisoning 3876 Tnf tumor necrosis factor gene DOID:37 skin disease susceptibility ISO RGD:1344192 D RGD:7364846|PMID:21357384 20131003 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:3721 plasmacytoma treatment ISO RGD:11429 D RGD:10449448|PMID:2022919 20160105 RGD 3876 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:11429 D RGD:4142851|PMID:2156165 20100914 RGD 3876 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:11429 D RGD:4143417|PMID:7542280 20100923 RGD 3876 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:11394717|PMID:16324872|PMID:17266442|PMID:25216247|PMID:26368622 3876 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:4143258|PMID:12030733 20100921 RGD DNA:polymorphism:promoter 3876 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:11429 D RGD:2314537|PMID:19154443 20101105 RGD 3876 Tnf tumor necrosis factor gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:12904053|PMID:10541330 20170516 RGD 3876 Tnf tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:4142793|PMID:19505916 20100909 RGD DNA:SNPs: : 3876 Tnf tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:4143264|PMID:9669810 20100921 RGD protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:399 tuberculosis ISO RGD:1344192 D RGD:4143229|PMID:20537163 20100920 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:4029 gastritis treatment IDA D RGD:10413874|PMID:25335260 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:4079 heart valve disease ISS RGD:11429 D RGD:13592920 20190117 MouseDO 3876 Tnf tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15946935 3876 Tnf tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:12904656|PMID:11389006 20170517 RGD associated with Hemochromatosis;DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16319143 3876 Tnf tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:1580322|PMID:16319143 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:4306 radiculopathy IEP D RGD:7394750|PMID:18848809 20131104 RGD mRNA:increased expression:spinal cord, dorsal root ganglion 3876 Tnf tumor necrosis factor gene DOID:4362 cervical cancer susceptibility ISO RGD:1344192 D RGD:2315116|PMID:19823053 20091218 RGD DNA:polymorphism:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:4398 pustulosis of palm and sole ISO RGD:1344192 D RGD:8548804|PMID:12691703 20140320 RGD DNA:SNPs, haplotype:5' utr:multiple 3876 Tnf tumor necrosis factor gene DOID:4398 pustulosis of palm and sole no_association ISO RGD:1344192 D RGD:8548803|PMID:11019918 20140320 RGD DNA:SNPs:promoter:multiple 3876 Tnf tumor necrosis factor gene DOID:4450 renal cell carcinoma ISO RGD:1344192 D RGD:2315113|PMID:19904265 20091218 RGD 3876 Tnf tumor necrosis factor gene DOID:4450 renal cell carcinoma ISO RGD:1344192 D RGD:2315119|PMID:19384924 20091221 RGD 3876 Tnf tumor necrosis factor gene DOID:4483 rhinitis IEP D RGD:4145454|PMID:20696593 20101104 RGD mRNA:increased expression:nose 3876 Tnf tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:1344192 D RGD:4143470|PMID:15120189 20100924 RGD 3876 Tnf tumor necrosis factor gene DOID:4692 endophthalmitis IEP D RGD:7829753|PMID:16544114 20140123 RGD protein:increased expression:vitreous: 3876 Tnf tumor necrosis factor gene DOID:4724 brain edema ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21276434 3876 Tnf tumor necrosis factor gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:6218988|PMID:21894146 20130304 RGD 3876 Tnf tumor necrosis factor gene DOID:5082 liver cirrhosis severity ISO RGD:1344192 D RGD:14995448|PMID:19695831 20191024 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:5199 ureteral obstruction IEP D RGD:7245519|PMID:19541932 20130610 RGD 3876 Tnf tumor necrosis factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344192 D RGD:10449449|PMID:1768380 20160105 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:5327 retinal detachment ISO RGD:11429 D RGD:5131257|PMID:21402953 20130711 RGD 3876 Tnf tumor necrosis factor gene DOID:5327 retinal detachment treatment IDA D RGD:5131257|PMID:21402953 20130711 RGD 3876 Tnf tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16478754 3876 Tnf tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:1580313|PMID:15927374 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:5463 cochlear disease IEP D RGD:13792837|PMID:29304389 20181002 RGD 3876 Tnf tumor necrosis factor gene DOID:552 pneumonia ISO RGD:1344192 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21625544|PMID:28917655|PMID:34390737 3876 Tnf tumor necrosis factor gene DOID:557 kidney disease ISO RGD:1344192 D RGD:10450570|PMID:14613268 20160118 RGD associated with Arthritis, Rheumatoid 3876 Tnf tumor necrosis factor gene DOID:5614 eye disease disease_progression ISO RGD:1344192 D RGD:7387296|PMID:12186498 20131028 RGD associated with Thyroid Diseases;protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:5679 retinal disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 3876 Tnf tumor necrosis factor gene DOID:5773 oral submucous fibrosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 3876 Tnf tumor necrosis factor gene DOID:5844 myocardial infarction IEP D RGD:5130892|PMID:21362018 20130711 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma 3876 Tnf tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 3876 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure IEP D RGD:14975271|PMID:28939262 20191003 RGD 3876 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:1344192 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:15231041|PMID:17337591|PMID:18034274|PMID:29959987 3876 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure severity ISO RGD:1344192 D RGD:7401241|PMID:11100001 20131112 RGD 3876 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure treatment IMP D RGD:1580213|PMID:15210453 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure treatment IMP D RGD:7401242|PMID:11668085 20131112 RGD associated with Myocardial Infarction; 3876 Tnf tumor necrosis factor gene DOID:614 lymphopenia ISO RGD:1344192 D RGD:10450888|PMID:2324681 20160122 RGD associated with HIV Infections;protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:630 genetic disease ISO RGD:1344192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3876 Tnf tumor necrosis factor gene DOID:633 myositis ISO RGD:1344192 D RGD:7401187|PMID:10399751 20131107 RGD protein:increased expression:muscle: 3876 Tnf tumor necrosis factor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1344192 D RGD:12904035|PMID:8548330 20170515 RGD 3876 Tnf tumor necrosis factor gene DOID:6364 migraine ISO RGD:1344192 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism 3876 Tnf tumor necrosis factor gene DOID:6364 migraine ISO RGD:1344192 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1 PMID:25741868 3876 Tnf tumor necrosis factor gene DOID:6364 migraine susceptibility ISO RGD:1344192 D RGD:7240710 20190410 OMIM 3876 Tnf tumor necrosis factor gene DOID:640 encephalomyelitis ISO RGD:11429 D RGD:12904033|PMID:9736027 20170515 RGD 3876 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:11429 D RGD:4143422|PMID:12391106 20100923 RGD 3876 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2518282 3876 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:4142833|PMID:9628235 20100914 RGD associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid 3876 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:4143280|PMID:16899829 20100921 RGD associated with pulmonary disease, chronic obstructive; protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:6543 acne susceptibility ISO RGD:1344192 D RGD:7394817|PMID:18615253 20131105 RGD DNA:SNP:promoter:c.-308 G>A (human) 3876 Tnf tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 3876 Tnf tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:14975171|PMID:26890368 20191001 RGD 3876 Tnf tumor necrosis factor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:11429 D RGD:11344640|PMID:26569409 20210421 RGD mRNA, protein:increased expression:liver, blood serum (mouse) 3876 Tnf tumor necrosis factor gene DOID:699 mitochondrial myopathy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 3876 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2001072|PMID:8391952|PMID:12566094|PMID:22450443|PMID:34459104 3876 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:synovial (human) 3876 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1344192 D RGD:12904065|PMID:25311255 20170516 RGD DNA:SNP:promoter:-238G>A, -308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:10450537|PMID:12563673 20160115 RGD 3876 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:12904065|PMID:25311255 20170516 RGD DNA:SNP:promoter:-857C>T (human) 3876 Tnf tumor necrosis factor gene DOID:7188 autoimmune thyroiditis ISO RGD:11429 D RGD:4841878|PMID:17046971 20101118 RGD 3876 Tnf tumor necrosis factor gene DOID:7427 anthrax disease disease_progression ISO RGD:11429 D RGD:40902812|PMID:19075243 20201210 RGD protein:decreased expression:multiple (mouse) 3876 Tnf tumor necrosis factor gene DOID:767 muscular atrophy ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24534773 3876 Tnf tumor necrosis factor gene DOID:769 neuroblastoma ISO RGD:1344192 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 3876 Tnf tumor necrosis factor gene DOID:780 placenta disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16007645 3876 Tnf tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 3876 Tnf tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:7245510|PMID:22266663 20130607 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:813 septic arthritis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 3876 Tnf tumor necrosis factor gene DOID:820 myocarditis ISO RGD:1344192 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:18627770|PMID:25396421 3876 Tnf tumor necrosis factor gene DOID:824 periodontitis treatment IEP D RGD:10450598|PMID:24586097 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:8283 peritonitis IEP D RGD:4143378|PMID:20819637 20100922 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:1344192 D RGD:14975296|PMID:26601826 20191004 RGD 3876 Tnf tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:11429 D RGD:4142832|PMID:10882225 20100914 RGD protein:increased expression:Bronchoalveolar Lavage Fluid 3876 Tnf tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:1344192 D RGD:4143466|PMID:15653992 20100924 RGD 3876 Tnf tumor necrosis factor gene DOID:8463 corneal ulcer ISO RGD:1344192 D RGD:7829721|PMID:12714388 20140122 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: 3876 Tnf tumor necrosis factor gene DOID:8472 localized scleroderma ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9843018 3876 Tnf tumor necrosis factor gene DOID:8483 retinal artery occlusion ISO RGD:11429 D RGD:7829809|PMID:19421412 20140124 RGD 3876 Tnf tumor necrosis factor gene DOID:850 lung disease IEP D RGD:4143425|PMID:11126266 20100923 RGD ventilator-induced lung injury; protein:altered expression:lung: 3876 Tnf tumor necrosis factor gene DOID:850 lung disease IEP D RGD:4143427|PMID:10455887 20100923 RGD lung injury associated with pancreatitis; protein:increased expression:Bronchoalveolar Lavage Fluid 3876 Tnf tumor necrosis factor gene DOID:850 lung disease IEP D RGD:4145512|PMID:15461830 20101108 RGD acute lung injury; mRNA:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:4142805|PMID:12745880 20100910 RGD lung injury; mRNA:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:4142809|PMID:12377989 20100913 RGD lung injury 3876 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 3876 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:4143432|PMID:9462189 20100923 RGD associated with premature birth; protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:8505 dermatitis herpetiformis ISO RGD:1344192 D RGD:8548777|PMID:7914110 20140319 RGD DNA:polymorphism:promoter 3876 Tnf tumor necrosis factor gene DOID:8515 Cor pulmonale ISO RGD:1344192 D RGD:4143386|PMID:20669672 20100922 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:8536 herpes zoster ISO RGD:1344192 D RGD:8663478|PMID:21954956 20140703 RGD protein:increased expression:: 3876 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis IEP D RGD:10450593|PMID:24812904 20160119 RGD protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19617644|PMID:20452301|PMID:22119283 3876 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:14975153|PMID:28120341 20191001 RGD 3876 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis treatment ISO RGD:11429 D RGD:10450577|PMID:25204186 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:863 nervous system disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14999072 3876 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis IDA D RGD:1580205|PMID:16269520 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:2324672|PMID:20501441 20211120 RGD mRNA:increased expression:ileum (rat) 3876 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:4144091|PMID:19824106 20101001 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:8725 vascular dementia susceptibility ISO RGD:1344192 D RGD:13825254|PMID:11273064 20181204 RGD DNA:polymorphism:promoter:-850C>T(human) 3876 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1344192 D RGD:4143476|PMID:10650487 20100924 RGD 3876 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia severity ISO RGD:11429 D RGD:10449451|PMID:12958055 20160105 RGD 3876 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:11429 D RGD:10450564|PMID:9310939 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:1344192 D RGD:10755357|PMID:7546648 20160126 RGD associated with Agranulocytosis 3876 Tnf tumor necrosis factor gene DOID:8778 Crohn's disease IEP D RGD:5130893|PMID:21359923 20130711 RGD protein:increased expression:intestine mucosa 3876 Tnf tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 3876 Tnf tumor necrosis factor gene DOID:8778 Crohn's disease treatment IEP D RGD:8661753|PMID:22531889 20140613 RGD 3876 Tnf tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7744320|PMID:16844318 3876 Tnf tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:7401180|PMID:16821276 20131107 RGD 3876 Tnf tumor necrosis factor gene DOID:8893 psoriasis susceptibility ISO RGD:1344192 D RGD:7394813|PMID:9326391 20131105 RGD DNA:SNP: :-238G>A(rs361525)(human) 3876 Tnf tumor necrosis factor gene DOID:893 Wilson disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 3876 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:7364856|PMID:22105495 20131003 RGD associated with Diabetes Mellitus, Type 2 3876 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:7401212|PMID:16284605 20131107 RGD protein:increased expression:serum, vitreous humour 3876 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1344192 D RGD:7394805|PMID:10540181 20131105 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet: 3876 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy no_association ISO RGD:1344192 D RGD:8548772|PMID:16979413 20140319 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human) 3876 Tnf tumor necrosis factor gene DOID:90 degenerative disc disease ISO RGD:1344192 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34600870 3876 Tnf tumor necrosis factor gene DOID:900 hepatopulmonary syndrome treatment IMP D RGD:14696802|PMID:26236934 20190726 RGD 3876 Tnf tumor necrosis factor gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5131936|PMID:20633123 20110516 RGD 3876 Tnf tumor necrosis factor gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 3876 Tnf tumor necrosis factor gene DOID:9000099 Experimental Colitis treatment IMP D RGD:8661763|PMID:21296062 20140613 RGD 3876 Tnf tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:9831197|PMID:25443778 20150303 RGD protein:increased expression:brain 3876 Tnf tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis disease_progression IEP D RGD:40903068|PMID:31933824 20210215 RGD mRNA:increased expression:brain (rat) 3876 Tnf tumor necrosis factor gene DOID:9000197 Edema ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 3876 Tnf tumor necrosis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1733439|PMID:15201584 3876 Tnf tumor necrosis factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1344192 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 3876 Tnf tumor necrosis factor gene DOID:9000300 Refractory Anemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10870480 3876 Tnf tumor necrosis factor gene DOID:9000304 Manganese Poisoning ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 3876 Tnf tumor necrosis factor gene DOID:9000310 Lung Injury ISO RGD:1344192 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2518282|PMID:26243812|PMID:34255241 3876 Tnf tumor necrosis factor gene DOID:9000352 Vascular System Injuries ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19234301 3876 Tnf tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:4144093|PMID:19719951 20101001 RGD protein:increased expression:brain 3876 Tnf tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344192 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 3876 Tnf tumor necrosis factor gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 3876 Tnf tumor necrosis factor gene DOID:9000641 Pain ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18582539|PMID:20383154 3876 Tnf tumor necrosis factor gene DOID:9000656 Penetrating Wounds IEP D RGD:11049529|PMID:26101070 20160407 RGD associated with Diabetes Mellitus, Experimental 3876 Tnf tumor necrosis factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344192 D RGD:4144784|PMID:17196641 20101013 RGD associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human) 3876 Tnf tumor necrosis factor gene DOID:9000784 Fibrosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18034274 3876 Tnf tumor necrosis factor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 3876 Tnf tumor necrosis factor gene DOID:9000918 Disease Progression ISO RGD:1344192 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 3876 Tnf tumor necrosis factor gene DOID:9000927 Alveolar Bone Loss treatment IEP D RGD:11049527|PMID:26270535 20160407 RGD associated with Diabetes Mellitus, Experimental 3876 Tnf tumor necrosis factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8032535|PMID:23431386 3876 Tnf tumor necrosis factor gene DOID:9000972 Fever ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:11852909|PMID:15384034 3876 Tnf tumor necrosis factor gene DOID:9000998 Brain Injuries IMP D RGD:13825262|PMID:10674461 20181205 RGD 3876 Tnf tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 3876 Tnf tumor necrosis factor gene DOID:9001109 Anorexia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25392278 3876 Tnf tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:10450588|PMID:24845379 20160119 RGD protein:increased expression:nucleus accumbens 3876 Tnf tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:7394752|PMID:19543754 20131104 RGD protein:increased expression:dorsal root ganglion: 3876 Tnf tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:14995472|PMID:7556590 20191025 RGD mRNA:increased expression:liver (rat) 3876 Tnf tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases treatment IMP D RGD:14398736|PMID:9397994 20190424 RGD 3876 Tnf tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases treatment IMP D RGD:14995456|PMID:15670576 20191024 RGD 3876 Tnf tumor necrosis factor gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:1344192 D RGD:14928216|PMID:10862314 20190913 RGD 3876 Tnf tumor necrosis factor gene DOID:9001472 Nasal Polyps ISO RGD:1344192 D RGD:4142855|PMID:17638785 20100914 RGD DNA:SNPs:promoter: 3876 Tnf tumor necrosis factor gene DOID:9001488 Human Influenza ISO RGD:1344192 D RGD:5128683|PMID:21062445 20101122 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:9001542 Albuminuria ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 3876 Tnf tumor necrosis factor gene DOID:9001553 Spinal Cord Compression ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 3876 Tnf tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11429 D RGD:39939037|PMID:28465467 20201022 RGD mRNA:increased expression:liver (mouse) 3876 Tnf tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 3876 Tnf tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:10450610|PMID:24383550 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation IDA D RGD:7245573|PMID:23333565 20130611 RGD 3876 Tnf tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 3876 Tnf tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344192 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 3876 Tnf tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:11429 D RGD:11344640|PMID:26569409 20210421 RGD protein:increased expression:blood serum (mouse) 3876 Tnf tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:1344192 D RGD:14696818|PMID:9063767 20190729 RGD Morris hepatoma 3876 Tnf tumor necrosis factor gene DOID:9001600 Wounds and Injuries ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 3876 Tnf tumor necrosis factor gene DOID:9001650 Pregnancy-Induced Hypertension treatment IMP D RGD:13825265|PMID:18981324 20181205 RGD 3876 Tnf tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 3876 Tnf tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:155230830|PMID:32178736 20220922 RGD protein:increased expression:blood serum (human) 3876 Tnf tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome treatment IEP D RGD:155230830|PMID:32178736 20220922 RGD 3876 Tnf tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 3876 Tnf tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock treatment IDA D RGD:10450602|PMID:24315526 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9001725 Retina Reperfusion Injury IDA D RGD:7387281|PMID:18660426 20131105 RGD 3876 Tnf tumor necrosis factor gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:7387281|PMID:18660426 20131105 RGD protein:increased expression:retina: 3876 Tnf tumor necrosis factor gene DOID:9001725 Retina Reperfusion Injury IMP D RGD:7387281|PMID:18660426 20131105 RGD 3876 Tnf tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:4143479|PMID:9032201 20100924 RGD 3876 Tnf tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:4145366|PMID:17348295 20101102 RGD associated with influenza;protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:9002153 Chronic Allograft Dysfunction treatment IMP D RGD:10450586|PMID:24598936 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:14696803|PMID:17164725 20190726 RGD protein:increased expression:serum (rat) 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:14985258|PMID:10454827 20191015 RGD protein:increased expression:serum (rat) 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10450597|PMID:24726586 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:14995447|PMID:21125813 20191024 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:14995473|PMID:11129814 20191025 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:15039406|PMID:19357028 20191209 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:2325259|PMID:11592783 20200817 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:14985257|PMID:15457564 20191015 RGD 3876 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:11429 D RGD:155260323|PMID:32155285 20220930 RGD 3876 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies IDA D RGD:1580208|PMID:16336586 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1580296|PMID:12969138 20181029 RGD associated with Diabetes Mellitus, Experimental 3876 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:5135032|PMID:21441310 20120322 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine 3876 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344192 D RGD:1580311|PMID:16141456 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:9002170 Experimental Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1674182|PMID:3361654|PMID:12627504 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia IDA D RGD:7387302|PMID:17459378 20131029 RGD 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia IEP D RGD:7387300|PMID:16675114 20131029 RGD protein:increased expression:lumbar vertebra: 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia IMP D RGD:7387300|PMID:16675114 20131029 RGD 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia IMP D RGD:7394757|PMID:17304130 20131104 RGD 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:7394737|PMID:18790011 20131101 RGD mRNA,protein:increased expression:spinal cord: 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:7394741|PMID:10825476 20131101 RGD 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:7401179|PMID:21104419 20131107 RGD associated with Diabetic Neuropathies; 3876 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7582491|PMID:7881729|PMID:10401557|PMID:12727271|PMID:16472913|PMID:17320857|PMID:18463260|PMID:18582539|PMID:20383154|PMID:26141506|PMID:27093858 3876 Tnf tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:10449463|PMID:12010662 20160105 RGD protein:increased expression:bone marrow, blood, lymphocyte 3876 Tnf tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:11041895|PMID:22945689 20160401 RGD 3876 Tnf tumor necrosis factor gene DOID:9002371 Cardiotoxicity ISO RGD:1344192 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:29959987|PMID:32068018 3876 Tnf tumor necrosis factor gene DOID:9002395 Hypothermia ISO RGD:1344192 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:16369138|PMID:34942311 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis IEP D RGD:10450611|PMID:24394943 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis IEP D RGD:8662976|PMID:19169271 20140701 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7589090|PMID:9598899|PMID:19203382|PMID:19330884|PMID:19765281|PMID:20131233|PMID:20974942|PMID:21452922|PMID:22450443 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:7245941|PMID:23052485 20130612 RGD 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:10755447|PMID:24028507 20160128 RGD 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:13792834|PMID:29408684 20181002 RGD 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:7193038|PMID:23140046 20140131 RGD 3876 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:8661761|PMID:21690068 20140613 RGD 3876 Tnf tumor necrosis factor gene DOID:9002549 Shock treatment IEP D RGD:10450572|PMID:7537468 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:9002549 Shock treatment IEP D RGD:10450732|PMID:2040364 20160120 RGD 3876 Tnf tumor necrosis factor gene DOID:9002554 Tachycardia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 3876 Tnf tumor necrosis factor gene DOID:9002676 Cerebral Hemorrhage ameliorates IEP D RGD:329337378|PMID:31376096 20230429 RGD 3876 Tnf tumor necrosis factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IEP D RGD:12904661|PMID:11421579 20170517 RGD 3876 Tnf tumor necrosis factor gene DOID:9002884 Emphysema ISO RGD:11429 D RGD:4143415|PMID:15805183 20100923 RGD 3876 Tnf tumor necrosis factor gene DOID:9002906 Multiple Organ Failure ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9696492|PMID:10890648 3876 Tnf tumor necrosis factor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11429 D RGD:7394795|PMID:19342600 20140805 RGD 3876 Tnf tumor necrosis factor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11429 D RGD:7394799|PMID:15681845 20131105 RGD 3876 Tnf tumor necrosis factor gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:7394705|PMID:19051071 20131030 RGD mRNA:increased expression:cochlea: 3876 Tnf tumor necrosis factor gene DOID:9002928 Colonic Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12842827|PMID:19028472 3876 Tnf tumor necrosis factor gene DOID:9002953 Escherichia Coli Infections IEP D RGD:38508904|PMID:9466473 20200819 RGD protein:increased expression:serum (rat) 3876 Tnf tumor necrosis factor gene DOID:9002955 Nerve Degeneration ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9710261|PMID:15153526|PMID:22921461 3876 Tnf tumor necrosis factor gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1344192 D RGD:1580310|PMID:16322490 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:9003291 Aggressive Fibromatosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19944662 3876 Tnf tumor necrosis factor gene DOID:9003470 Picornaviridae Infections ISO RGD:11429 D RGD:4145626|PMID:19748999 20101110 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22473048 3876 Tnf tumor necrosis factor gene DOID:9003507 Premature Birth ISO RGD:1344192 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27748297 3876 Tnf tumor necrosis factor gene DOID:9003817 Sudden Hearing Loss ISO RGD:1344192 D RGD:7394753|PMID:11189185 20131104 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1344192 D RGD:7245518|PMID:19690440 20130610 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:9003936 Cardiomegaly ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:17337591|PMID:18034274 3876 Tnf tumor necrosis factor gene DOID:9004009 Reperfusion Injury ISO RGD:1344192 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:15829914|PMID:16971220|PMID:17112405|PMID:18460982|PMID:19058328|PMID:23743330|PMID:23875703|PMID:24898700 3876 Tnf tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C ISO RGD:1344192 D RGD:14995307|PMID:9047083 20191018 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1344192 D RGD:14995439|PMID:9440625 20191024 RGD protein:increased expression:plasma (human) 3876 Tnf tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1344192 D RGD:38456002|PMID:25708446 20200810 RGD 3876 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection IEP D RGD:7394793|PMID:2038191 20131105 RGD protein:increased expression:heart,serum: 3876 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection IMP D RGD:7394793|PMID:2038191 20131105 RGD 3876 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:1344192 D RGD:7401188|PMID:8094579 20131107 RGD 3876 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection treatment IMP D RGD:8548836|PMID:2338821 20140321 RGD 3876 Tnf tumor necrosis factor gene DOID:9004484 Sepsis IEP D RGD:4144094|PMID:19695174 20101001 RGD mRNA:increased expression:heart 3876 Tnf tumor necrosis factor gene DOID:9004484 Sepsis IEP D RGD:5147745|PMID:15665729 20120322 RGD 3876 Tnf tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8741040|PMID:9806674|PMID:15489642 3876 Tnf tumor necrosis factor gene DOID:9004484 Sepsis treatment IDA D RGD:7364867|PMID:24055021 20131003 RGD 3876 Tnf tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:11429 D RGD:14975262|PMID:27488951 20191003 RGD 3876 Tnf tumor necrosis factor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:11429 D RGD:10449456|PMID:10318940 20160105 RGD 3876 Tnf tumor necrosis factor gene DOID:9004531 Cardiovirus Infections ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10609881 3876 Tnf tumor necrosis factor gene DOID:9004538 Hearing Loss ISO RGD:11429 D RGD:7394702|PMID:22001951 20131030 RGD associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: 3876 Tnf tumor necrosis factor gene DOID:9004547 Thyroid Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 3876 Tnf tumor necrosis factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22199285|PMID:23431386|PMID:23899529|PMID:24613819 3876 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure IEP D RGD:4144156|PMID:18070011 20101008 RGD mRNA:increased expression:liver 3876 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 3876 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344192 D RGD:14995442|PMID:10979906 20191024 RGD protein:increased expression:serum (human) 3876 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment IEP D RGD:10450538|PMID:12960499 20160115 RGD 3876 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1344192 D RGD:14700674|PMID:18946736 20190809 RGD 3876 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury IEP D RGD:5147925|PMID:19106808 20120322 RGD protein:increased expression:respiratory system fluid/secretion 3876 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury IEP D RGD:6480432|PMID:21767135 20120321 RGD mRNA, protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34390737 3876 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:14975158|PMID:30412745 20191001 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) 3876 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury no_association ISO RGD:1344192 D RGD:14975158|PMID:30412745 20191001 RGD DNA:SNP:promoter:rs1799964 (human) 3876 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:14995473|PMID:11129814 20191025 RGD associated with Liver Reperfusion Injury 3876 Tnf tumor necrosis factor gene DOID:9004649 Heat Stroke ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16878031|PMID:24039931 3876 Tnf tumor necrosis factor gene DOID:9004657 Weight Gain ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20521320 3876 Tnf tumor necrosis factor gene DOID:9004751 Nausea ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 3876 Tnf tumor necrosis factor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 3876 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:7364860|PMID:20720222 20131003 RGD DNA:SNP, haplotype:promoter 3876 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:7387275|PMID:21394064 20131028 RGD protein:increased expression:vitreous fluid: 3876 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:7401211|PMID:19585364 20131107 RGD 3876 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease disease_progression ISO RGD:1344192 D RGD:7394772|PMID:21849807 20131104 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease severity ISO RGD:1344192 D RGD:7387277|PMID:21139707 20131028 RGD protein:increased expression:serum: 3876 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy IMP D RGD:7394740|PMID:9514564 20131101 RGD 3876 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:11429 D RGD:7394739|PMID:18394803 20131101 RGD 3876 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:11429 D RGD:7394741|PMID:10825476 20131101 RGD 3876 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:1344192 D RGD:7394735|PMID:11376190 20131101 RGD protein:increased expression:Schwann cell 3876 Tnf tumor necrosis factor gene DOID:9005172 Lung Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14587096|PMID:22369883 3876 Tnf tumor necrosis factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11429 D RGD:7401185|PMID:19755514 20131107 RGD 3876 Tnf tumor necrosis factor gene DOID:9005236 Drug Eruptions ISO RGD:1344192 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 3876 Tnf tumor necrosis factor gene DOID:9005254 Systemic Candidiasis ISO RGD:11429 D RGD:10449457|PMID:11562071 20160105 RGD mRNA, protein:increased expression:spleen, plasma 3876 Tnf tumor necrosis factor gene DOID:9005269 Stable Angina ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 3876 Tnf tumor necrosis factor gene DOID:9005372 Inflammation ISO RGD:1344192 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:12843254|PMID:14970111|PMID:16001271|PMID:16227999|PMID:19324842|PMID:19803787|PMID:20167660|PMID:20943792|PMID:21146893|PMID:21467745|PMID:22452660|PMID:23348408|PMID:23371441|PMID:23795810|PMID:34942311 3876 Tnf tumor necrosis factor gene DOID:9005372 Inflammation treatment IEP D RGD:11059519|PMID:26069367 20160414 RGD 3876 Tnf tumor necrosis factor gene DOID:9005372 Inflammation treatment IEP D RGD:11059520|PMID:25706245 20160414 RGD 3876 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142788|PMID:20555424 20100908 RGD protein:increased expression:heart 3876 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5131250|PMID:21481476 20130711 RGD protein:increased expression:liver 3876 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12123627|PMID:12193562|PMID:19478208|PMID:20388520|PMID:22138235|PMID:24513509 3876 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10450575|PMID:24374093 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:2312478|PMID:19220660 20191028 RGD 3876 Tnf tumor necrosis factor gene DOID:9005724 Fungal Lung Diseases IEP D RGD:4145506|PMID:16544260 20101108 RGD protein:increased expression:lung 3876 Tnf tumor necrosis factor gene DOID:9005749 Necrosis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10909967|PMID:22345571|PMID:24548419 3876 Tnf tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:11429 D RGD:7401243|PMID:14747060 20131112 RGD mRNA,protein:increased expression:tongue: 3876 Tnf tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:1344192 D RGD:7401244|PMID:21397550 20131112 RGD protein:increased expression:saliva 3876 Tnf tumor necrosis factor gene DOID:9005882 Spine Osteoarthritis ISO RGD:1344192 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 3876 Tnf tumor necrosis factor gene DOID:9005883 Pleural Effusion ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2518282 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia IDA D RGD:5147765|PMID:21396682 20120322 RGD 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia IDA D RGD:5147779|PMID:20519137 20120322 RGD 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia IEP D RGD:14995443|PMID:8283134 20191024 RGD protein:increased expression:plasma (rat) 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia IEP D RGD:4891465|PMID:17324147 20110114 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment IEP D RGD:14995427|PMID:12813371 20191023 RGD 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment IEP D RGD:15023464|PMID:18078960 20191113 RGD 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment IEP D RGD:38501090|PMID:15242491 20200817 RGD associated with liver cirrhosis 3876 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:11429 D RGD:40903016|PMID:10493164 20210309 RGD XCO:0000822 JTE-607 3876 Tnf tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:11429 D RGD:7401236|PMID:20147558 20131112 RGD 3876 Tnf tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:1344192 D RGD:7401169|PMID:11197112 20131106 RGD protein:increased expression:nasal cavity epithelium 3876 Tnf tumor necrosis factor gene DOID:9005968 Neuralgia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20846523 3876 Tnf tumor necrosis factor gene DOID:9006024 Hypotension ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:15384034 3876 Tnf tumor necrosis factor gene DOID:9006081 Osteolysis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15878362 3876 Tnf tumor necrosis factor gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:10450584|PMID:24826482 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9006205 Animal Disease Models ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 3876 Tnf tumor necrosis factor gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:2315112|PMID:19925291 20091218 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:11429 D RGD:12904072|PMID:7815559 20170516 RGD 3876 Tnf tumor necrosis factor gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1344192 D RGD:7401181|PMID:10800908 20131107 RGD associated with connective tissue diseases; 3876 Tnf tumor necrosis factor gene DOID:9006388 Vulvar Vestibulitis ISO RGD:1344192 D RGD:7394738|PMID:9015038 20131101 RGD protein:increased expression:vagina 3876 Tnf tumor necrosis factor gene DOID:9006646 Metabolic Syndrome treatment IEP D RGD:10450604|PMID:24441717 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9006647 Experimental Autoimmune Neuritis treatment IEP D RGD:7401218|PMID:18400050 20131108 RGD 3876 Tnf tumor necrosis factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1344192 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:33961948 3876 Tnf tumor necrosis factor gene DOID:9006709 Primary Graft Dysfunction treatment IEP D RGD:15023490|PMID:18972563 20191113 RGD liver 3876 Tnf tumor necrosis factor gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:11429 D RGD:11344640|PMID:26569409 20210421 RGD protein:increased expression:blood serum (mouse) 3876 Tnf tumor necrosis factor gene DOID:9006741 Acute Hepatitis treatment IMP D RGD:14688052|PMID:15476865 20190606 RGD 3876 Tnf tumor necrosis factor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344192 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 3876 Tnf tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury IMP D RGD:4143397|PMID:17294835 20100922 RGD 3876 Tnf tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:11429 D RGD:153350155|PMID:34238924 20220914 RGD 3876 Tnf tumor necrosis factor gene DOID:9006844 Streptococcal Infections ISO RGD:8789275 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:8302123|REF_RGD_ID:11554174 3876 Tnf tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis ISO RGD:1344192 D RGD:4143440|PMID:20088864 20100923 RGD protein:increased expression:nasal lavage fluid 3876 Tnf tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:4143441|PMID:19849941 20100923 RGD DNA:polymorphism:promoter: c. -308A>G (human) 3876 Tnf tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:4889847|PMID:17703412 20110121 RGD DNA:SNP: :rs1799724(human) 3876 Tnf tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:1344192 D RGD:14995434|PMID:9214463 20191024 RGD DNA:SNP:promoter:-238G>A (human) 3876 Tnf tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver treatment IEP D RGD:38508901|PMID:20143470 20200819 RGD 3876 Tnf tumor necrosis factor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17909696 3876 Tnf tumor necrosis factor gene DOID:9007039 Ventricular Dysfunction ISO RGD:1344192 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 3876 Tnf tumor necrosis factor gene DOID:9007073 Cough ISO RGD:1344192 D RGD:4143478|PMID:10325899 20100924 RGD protein:increased expression:sputum 3876 Tnf tumor necrosis factor gene DOID:9007096 Stroke IEP D RGD:4891154|PMID:21171972 20110110 RGD mRNA:increased expression:brain 3876 Tnf tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 3876 Tnf tumor necrosis factor gene DOID:9007096 Stroke susceptibility ISO RGD:1344192 D RGD:11529997|PMID:14615367 20160818 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:promoter:-308G>A(rs1800629)(human) 3876 Tnf tumor necrosis factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533|PMID:16775501 3876 Tnf tumor necrosis factor gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1344192 D RGD:7394742|PMID:11321389 20131101 RGD 3876 Tnf tumor necrosis factor gene DOID:9007188 Liver Neoplasms ISO RGD:1344192 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:24183702 3876 Tnf tumor necrosis factor gene DOID:9007346 Cachexia IEP D RGD:1624190|PMID:16077938 20191028 RGD associated with hepatocellular carcinoma;mRNA:altered expression:skeletal muscle tissue, adipose tissue (rat) 3876 Tnf tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:14696804|PMID:11124822 20190726 RGD protein:increased expression:serum (rat) 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:14995429|PMID:17070847 20191023 RGD protein:increased expression:serum (rat) 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7532385|PMID:9696492|PMID:17709330|PMID:19638433|PMID:20623750|PMID:21984482 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:11429 D RGD:14995437|PMID:10801288 20191024 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IDA D RGD:10450531|PMID:15830285 20160115 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15036799|PMID:31342809 20191115 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IMP D RGD:14995432|PMID:9309314 20191023 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IMP D RGD:14995485|PMID:14686721 20191028 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11429 D RGD:14975281|PMID:31077717 20191004 RGD 3876 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11429 D RGD:14995435|PMID:10801287 20191024 RGD 3876 Tnf tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:11429 D RGD:10450561|PMID:8168971 20160118 RGD 3876 Tnf tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:11429 D RGD:32733623|PMID:27175332 20200701 RGD 3876 Tnf tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1344192 D RGD:10450534|PMID:7923933 20160115 RGD associated with Agranulocytosis 3876 Tnf tumor necrosis factor gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16767912|PMID:17203757 3876 Tnf tumor necrosis factor gene DOID:9007480 Hyperoxia ISO RGD:11429 D RGD:10449454|PMID:8679214 20160105 RGD 3876 Tnf tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:10449461|PMID:12845374 20160105 RGD associated with Anemia, Hemolytic 3876 Tnf tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:1580295|PMID:15164724 20181029 RGD 3876 Tnf tumor necrosis factor gene DOID:9007588 Heart Injuries ameliorates ISO RGD:11429 D RGD:242905211|PMID:32084395 20230329 RGD associated with obesity 3876 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance IDA D RGD:1580214|PMID:14764603 19990101 RGD 3876 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:20943792 3876 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment IEP D RGD:10450578|PMID:25016878 20160118 RGD associated with Obesity 3876 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment IMP D RGD:14995428|PMID:9832430 20191023 RGD associated with obesity 3876 Tnf tumor necrosis factor gene DOID:9007730 Burns ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 3876 Tnf tumor necrosis factor gene DOID:9007730 Burns treatment IDA D RGD:11049530|PMID:26152211 20160407 RGD 3876 Tnf tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7387274|PMID:24157164 20131028 RGD protein:increased expression:serum, heart: 3876 Tnf tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220925 RGD 3876 Tnf tumor necrosis factor gene DOID:9007964 Arsenic Poisoning ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 3876 Tnf tumor necrosis factor gene DOID:9008 psoriatic arthritis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12746914|PMID:19732956 3876 Tnf tumor necrosis factor gene DOID:9008 psoriatic arthritis ISO RGD:1344192 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 3876 Tnf tumor necrosis factor gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1344192 D RGD:7394813|PMID:9326391 20131105 RGD DNA:SNP: :-238G>A(rs361525)(human) 3876 Tnf tumor necrosis factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23431386 3876 Tnf tumor necrosis factor gene DOID:9008455 High-Frequency Hearing Loss ISO RGD:11429 D RGD:7394699|PMID:23996384 20131030 RGD 3876 Tnf tumor necrosis factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1344192 D RGD:5131286|PMID:20811626 20100909 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) 3876 Tnf tumor necrosis factor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 3876 Tnf tumor necrosis factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:1344192 D RGD:4145665|PMID:14633438 20101112 RGD Severe Acute Respiratory Syndrome; protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:9008821 Otitis Media with Effusion ISO RGD:11429 D RGD:7394746|PMID:18568516 20131101 RGD protein:increased expression:middle ear effusion: 3876 Tnf tumor necrosis factor gene DOID:9008939 Breast Neoplasms ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19446661 3876 Tnf tumor necrosis factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10541330 3876 Tnf tumor necrosis factor gene DOID:9065 leishmaniasis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 3876 Tnf tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:155663483|PMID:22660635 20221117 RGD mRNA:increased expression:kidney (human) 3876 Tnf tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:7245570|PMID:15642275 20130611 RGD protein:increased expression:serum 3876 Tnf tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:7245571|PMID:11607787 20130611 RGD DNA:polymorphisms, haplotype:promoter:multiple (human) 3876 Tnf tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 3876 Tnf tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 3876 Tnf tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1344192 D RGD:8548800|PMID:16950634 20140320 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) 3876 Tnf tumor necrosis factor gene DOID:9120 amyloidosis ISO RGD:1344192 D RGD:10450570|PMID:14613268 20160118 RGD associated with Arthritis, Rheumatoid 3876 Tnf tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:11429 D RGD:8548789|PMID:15579454 20140319 RGD 3876 Tnf tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1901333|PMID:22461696 3876 Tnf tumor necrosis factor gene DOID:9146 visceral leishmaniasis severity ISO RGD:1344192 D RGD:8548784|PMID:12438370 20140319 RGD DNA:polymorphisms 3876 Tnf tumor necrosis factor gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1344192 D RGD:8548799|PMID:7595196 20140320 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12615666 3876 Tnf tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus IMP D RGD:5130987|PMID:20559450 20130711 RGD 3876 Tnf tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 3876 Tnf tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:14975146|PMID:28843383 20191001 RGD 3876 Tnf tumor necrosis factor gene DOID:9402 epididymitis IEP D RGD:13792835|PMID:29311626 20181002 RGD 3876 Tnf tumor necrosis factor gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230419 RGD 3876 Tnf tumor necrosis factor gene DOID:9452 fatty liver disease ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 3876 Tnf tumor necrosis factor gene DOID:9538 multiple myeloma no_association ISO RGD:1344192 D RGD:10449453|PMID:12815949 20160105 RGD DNA:SNP:promoter:-308G>A (human) 3876 Tnf tumor necrosis factor gene DOID:9538 multiple myeloma treatment ISO RGD:1344192 D RGD:10449450|PMID:12200397 20160105 RGD DNA:SNP:promoter:-238G>A (human) 3876 Tnf tumor necrosis factor gene DOID:9563 bronchiectasis ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 3876 Tnf tumor necrosis factor gene DOID:9563 bronchiectasis severity ISO RGD:1344192 D RGD:12904660|PMID:18221721 20170517 RGD protein:increased expression:plasma 3876 Tnf tumor necrosis factor gene DOID:9588 encephalitis IEP D RGD:5147676|PMID:16006567 20120322 RGD 3876 Tnf tumor necrosis factor gene DOID:9675 pulmonary emphysema ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 3876 Tnf tumor necrosis factor gene DOID:9743 diabetic neuropathy treatment IEP D RGD:7401217|PMID:23280817 20131108 RGD 3876 Tnf tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23640034 3876 Tnf tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1344192 D RGD:2313253|PMID:19120272 20090915 RGD DNA:SNP (human) 3876 Tnf tumor necrosis factor gene DOID:9767 myocardial stunning ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 3876 Tnf tumor necrosis factor gene DOID:9784 trichinosis ISO RGD:11429 D RGD:8548805|PMID:19564380 20140320 RGD 3876 Tnf tumor necrosis factor gene DOID:9884 muscular dystrophy ISO RGD:1344192 D RGD:10449464|PMID:10235436 20160105 RGD 3876 Tnf tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:9502777|PMID:11328671|PMID:20141834|PMID:29035695 3876 Tnf tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:14975146|PMID:28843383 20191001 RGD 3876 Tnf tumor necrosis factor gene DOID:9970 obesity treatment ISO RGD:11429 D RGD:10450599|PMID:24146106 20160119 RGD 3876 Tnf tumor necrosis factor gene DOID:9993 hypoglycemia ISO RGD:1344192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8774068 3877 Tnfaip1 TNF alpha induced protein 1 gene DOID:630 genetic disease ISO RGD:1346510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3877 Tnfaip1 TNF alpha induced protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:17261581 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:10283 prostate cancer ISO RGD:737226 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:1790 malignant mesothelioma ISO RGD:737226 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:3087 gingivitis ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:8811349 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:630 genetic disease ISO RGD:737226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:820 myocarditis ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8701986|PMID:10908157|PMID:12358914|PMID:12453859|PMID:16879607|PMID:17261581 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:15316035 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:12235215 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9002884 Emphysema ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:29984229 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9008217 Hemorrhage ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:29984229 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:737226 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9826579|PMID:12031769 3879 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9351 diabetes mellitus ISO RGD:737227 D RGD:2312735|PMID:10192335 20090901 RGD 3880 Faslg Fas ligand gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1553064 D RGD:11049166|PMID:15148335 20160405 RGD 3880 Faslg Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:2317742|PMID:15287856 20100420 RGD associated with Biliary Tract Disease;protein:decreased expression:serum 3880 Faslg Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:2317743|PMID:15138553 20100420 RGD protein:decreased expression:serum 3880 Faslg Fas ligand gene DOID:0050700 cardiomyopathy ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324756|PMID:17943461 3880 Faslg Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:11049447|PMID:9557605 20160406 RGD mRNA,protein:increased expression:bone marrow: 3880 Faslg Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:11049448|PMID:15686130 20160406 RGD protein:decreased expression:peripheral blood mononuclear cell: 3880 Faslg Fas ligand gene DOID:0060108 brain glioma treatment IDA D RGD:13792598|PMID:29324390 20180917 RGD 3880 Faslg Fas ligand gene DOID:0060500 drug allergy ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 3880 Faslg Fas ligand gene DOID:0081267 graft-versus-host disease IEP D RGD:14700681|PMID:10452880 20190809 RGD mRNA,protein:increased expression:liver: 3880 Faslg Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1606342 D RGD:11049160|PMID:9404931 20160405 RGD 3880 Faslg Fas ligand gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1606342 D RGD:14700669|PMID:30066360 20190809 RGD DNA:SNP:intron:124A>G(rs5030772)(human) 3880 Faslg Fas ligand gene DOID:10808 gastric ulcer treatment IEP D RGD:13792597|PMID:29339218 20180917 RGD 3880 Faslg Fas ligand gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606342 D RGD:2290063|PMID:16538171 20080226 RGD DNA:polymorphisms:promoter:-844T>C 3880 Faslg Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 3880 Faslg Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:2315753|PMID:15803113 20100112 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3880 Faslg Fas ligand gene DOID:12449 aplastic anemia ISO RGD:735890 D RGD:1582425|PMID:16212902 20061108 RGD 3880 Faslg Fas ligand gene DOID:127 leiomyoma ISO RGD:1606342 D RGD:2292498|PMID:18000229 20080421 RGD protein:increased expression:myometrium 3880 Faslg Fas ligand gene DOID:12858 Huntington's disease ISO RGD:1606342 D RGD:12903948|PMID:11054182 20170511 RGD protein:decreased expression:putamen,caudate: 3880 Faslg Fas ligand gene DOID:12930 dilated cardiomyopathy ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 3880 Faslg Fas ligand gene DOID:13001 carotid stenosis ISO RGD:735890 D RGD:1582424|PMID:14739407 20061108 RGD 3880 Faslg Fas ligand gene DOID:13133 HELLP syndrome IEP D RGD:14700673|PMID:28501275 20190809 RGD protein:altered expression:blood, placenta, liver: 3880 Faslg Fas ligand gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1606342 D RGD:14700669|PMID:30066360 20190809 RGD DNA:SNP:intron:124A>G(rs5030772)(human) 3880 Faslg Fas ligand gene DOID:1324 lung cancer ISO RGD:1606342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:17605793|PMID:25741868|PMID:28492532 3880 Faslg Fas ligand gene DOID:13767 clonorchiasis IEP D RGD:2315733|PMID:18427836 20100111 RGD mRNA, protein:increased expression:liver 3880 Faslg Fas ligand gene DOID:13809 familial combined hyperlipidemia ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 3880 Faslg Fas ligand gene DOID:14330 Parkinson's disease IEP D RGD:2290172|PMID:17959308 20080226 RGD protein:increased expression:substantia nigra pars compacta, striatum (rat) 3880 Faslg Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:1606342 D RGD:12903948|PMID:11054182 20170511 RGD protein:decreased expression:neurones of the substantia nigra pars: 3880 Faslg Fas ligand gene DOID:1485 cystic fibrosis ISO RGD:1606342 D RGD:12904024|PMID:10567629 20170515 RGD 3880 Faslg Fas ligand gene DOID:1540 parathyroid carcinoma ISO RGD:1606342 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3880 Faslg Fas ligand gene DOID:1577 limited scleroderma ISO RGD:1553064 D RGD:12903974|PMID:17102953 20170512 RGD 3880 Faslg Fas ligand gene DOID:1793 pancreatic cancer ISO RGD:1606342 D RGD:2317745|PMID:11115536 20100420 RGD 3880 Faslg Fas ligand gene DOID:1793 pancreatic cancer resistance ISO RGD:1606342 D RGD:2315744|PMID:18483392 20100420 RGD DNA:polymorphism:promoter:-844>>T (human) 3880 Faslg Fas ligand gene DOID:1793 pancreatic cancer severity ISO RGD:1606342 D RGD:2317744|PMID:12370548 20100420 RGD 3880 Faslg Fas ligand gene DOID:1909 melanoma ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16487513 3880 Faslg Fas ligand gene DOID:1909 melanoma susceptibility ISO RGD:1606342 D RGD:12903985|PMID:16538172 20170512 RGD DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human) 3880 Faslg Fas ligand gene DOID:1936 atherosclerosis ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 3880 Faslg Fas ligand gene DOID:2043 hepatitis B ISO RGD:1606342 D RGD:14700675|PMID:12526294 20190809 RGD protein:increased expression:liver: 3880 Faslg Fas ligand gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1553064 D RGD:14700710|PMID:28551553 20190813 RGD 3880 Faslg Fas ligand gene DOID:2237 hepatitis ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 3880 Faslg Fas ligand gene DOID:2237 hepatitis severity ISO RGD:1553064 D RGD:14401591|PMID:28406481 20190514 RGD 3880 Faslg Fas ligand gene DOID:2316 brain ischemia IEP D RGD:2311437|PMID:18410517 20100111 RGD protein:increased expression:brain 3880 Faslg Fas ligand gene DOID:2349 arteriosclerosis ISO RGD:735890 D RGD:1582424|PMID:14739407 20061108 RGD 3880 Faslg Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 3880 Faslg Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:1358622|PMID:11438180 19990101 RGD DNA:repeat:promoter:g.-46(CA)11-15 (human) 3880 Faslg Fas ligand gene DOID:2519 testicular disease ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19429229 3880 Faslg Fas ligand gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1606342 D RGD:2290076|PMID:12651606 20080226 RGD 3880 Faslg Fas ligand gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1606342 D RGD:2290077|PMID:12470426 20080226 RGD 3880 Faslg Fas ligand gene DOID:303 substance-related disorder IDA D RGD:1358616|PMID:15644446 19990101 RGD 3880 Faslg Fas ligand gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:13792601|PMID:29208459 20180917 RGD 3880 Faslg Fas ligand gene DOID:3407 carotid artery disease ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 3880 Faslg Fas ligand gene DOID:3457 invasive lobular carcinoma ISO RGD:1606342 D RGD:2290134|PMID:10640988 20080226 RGD protein:increased expression:breast 3880 Faslg Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:2317741|PMID:15375495 20100420 RGD protein:increased expression:pancreas, liver 3880 Faslg Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:2317747|PMID:10547193 20100420 RGD 3880 Faslg Fas ligand gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21807637 3880 Faslg Fas ligand gene DOID:409 liver disease treatment IEP D RGD:13792574|PMID:29852394 20180913 RGD associated with Diabetes Mellitus, Experimental 3880 Faslg Fas ligand gene DOID:4440 seminoma ISO RGD:1606342 D RGD:2290049|PMID:17916181 20080226 RGD mRNA, protein:increased expression:testis 3880 Faslg Fas ligand gene DOID:4450 renal cell carcinoma ISO RGD:1553064 D RGD:2290051|PMID:17641033 20080226 RGD 3880 Faslg Fas ligand gene DOID:4450 renal cell carcinoma ISO RGD:1553064 D RGD:2290132|PMID:11435457 20080226 RGD 3880 Faslg Fas ligand gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:1606342 D RGD:14700701|PMID:11003620 20190812 RGD 3880 Faslg Fas ligand gene DOID:4947 cholangiocarcinoma ISO RGD:1606342 D RGD:2317746|PMID:11029528 20100420 RGD 3880 Faslg Fas ligand gene DOID:6000 congestive heart failure treatment IEP D RGD:13792577|PMID:29746994 20180913 RGD 3880 Faslg Fas ligand gene DOID:630 genetic disease ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3880 Faslg Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606342 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3880 Faslg Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:16627752|PMID:17576681|PMID:17605793|PMID:21368861|PMID:22857792|PMID:25451160|PMID:25741868|PMID:26334989|PMID:26456038|PMID:28492532|PMID:8787672|PMID:9536098 3880 Faslg Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome susceptibility ISO RGD:1606342 D RGD:7240710 20230505 OMIM 3880 Faslg Fas ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1606342 D RGD:14700677|PMID:11274632 20190809 RGD protein:increased expression:liver: 3880 Faslg Fas ligand gene DOID:7148 rheumatoid arthritis ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 3880 Faslg Fas ligand gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20201001 RGD protein:increased expression:aorta (rat) 3880 Faslg Fas ligand gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1606342 D RGD:11049146|PMID:26563376 20160405 RGD DNA:polymorphism:promoter: -844 T>C(human) 3880 Faslg Fas ligand gene DOID:8568 infectious mononucleosis ISO RGD:1606342 D RGD:11049152|PMID:11185989 20160405 RGD protein:increased expression:lymphocyte, serum: 3880 Faslg Fas ligand gene DOID:8577 ulcerative colitis treatment IEP D RGD:13792562|PMID:30122878 20180912 RGD 3880 Faslg Fas ligand gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1606342 D RGD:2290052|PMID:17433060 20080226 RGD associated with Papillomavirus Infections 3880 Faslg Fas ligand gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1606342 D RGD:2317739|PMID:15968727 20100420 RGD protein:increased expression:gallbladder 3880 Faslg Fas ligand gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606342 D RGD:11049151|PMID:9605741 20160405 RGD protein:increased expression:esophageal mucosa: 3880 Faslg Fas ligand gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606342 D RGD:2290053|PMID:17352235 20080226 RGD associated with Breast Neoplasms;protein:decreased expression:breast 3880 Faslg Fas ligand gene DOID:9001553 Spinal Cord Compression ISO RGD:1606342 D RGD:12904017|PMID:21490053 20170515 RGD protein:increased expression:spinal cord: 3880 Faslg Fas ligand gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1553064 D RGD:12904017|PMID:21490053 20170515 RGD 3880 Faslg Fas ligand gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:14700680|PMID:18561025 20190809 RGD 3880 Faslg Fas ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1606342 D RGD:2315705|PMID:17851466 20100112 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney 3880 Faslg Fas ligand gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606342 D RGD:12904025|PMID:16169656 20170515 RGD associated with protein:increased expression:serum: 3880 Faslg Fas ligand gene DOID:9002231 Fetal Growth Retardation severity ISO RGD:1606342 D RGD:12903972|PMID:23582102 20170512 RGD protein:increased expression:amniotic fluid: 3880 Faslg Fas ligand gene DOID:9002283 Experimental Allergic Asthma treatment IEP D RGD:13792581|PMID:29713367 20180913 RGD 3880 Faslg Fas ligand gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17875776 3880 Faslg Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1553064 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 3880 Faslg Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1606342 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 3880 Faslg Fas ligand gene DOID:9002395 Hypothermia IEP D RGD:2311437|PMID:18410517 20100111 RGD associated with Brain Ischemia 3880 Faslg Fas ligand gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:7204500|PMID:22354915 20121221 RGD 3880 Faslg Fas ligand gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1606342 D RGD:12903984|PMID:10944459 20170512 RGD 3880 Faslg Fas ligand gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1553064 D RGD:12903974|PMID:17102953 20170512 RGD 3880 Faslg Fas ligand gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606342 D RGD:2290052|PMID:17433060 20080226 RGD associated with Papillomavirus Infections 3880 Faslg Fas ligand gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1606342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:28492532 3880 Faslg Fas ligand gene DOID:9004283 Transplant Rejection IEP D RGD:14700698|PMID:10357921 20190812 RGD mRNA, protein:increased expression:liver 3880 Faslg Fas ligand gene DOID:9004484 Sepsis IEP D RGD:2290175|PMID:17899301 20080226 RGD mRNA:increased expression:liver 3880 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1553064 D RGD:14700674|PMID:18946736 20190809 RGD mRNA,protein:increased expression:liver: 3880 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 3880 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:14401578|PMID:16279913 20190513 RGD mRNA:increased expression:liver 3880 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:14700697|PMID:10950056 20190812 RGD mRNA, protein:increased expression:liver, lymphocyte, serum: 3880 Faslg Fas ligand gene DOID:9004610 Acute Lung Injury ISO RGD:1606342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 3880 Faslg Fas ligand gene DOID:9004779 Autoimmune Lymphoproliferative Syndrome, Type IB ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b PMID:25741868|PMID:8787672 3880 Faslg Fas ligand gene DOID:9005172 Lung Neoplasms ISO RGD:1606342 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3880 Faslg Fas ligand gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1606342 D RGD:7240710 20230505 OMIM 3880 Faslg Fas ligand gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314021|PMID:19820199 20100112 RGD protein:increased expression:heart ventricle 3880 Faslg Fas ligand gene DOID:9005749 Necrosis ISO RGD:1553064 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 3880 Faslg Fas ligand gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:13792599|PMID:29285062 20180917 RGD 3880 Faslg Fas ligand gene DOID:9006741 Acute Hepatitis IEP D RGD:14401580|PMID:11290807 20190516 RGD mRNA:increased expression:liver 3880 Faslg Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:1606342 D RGD:14700697|PMID:10950056 20190812 RGD protein:increased expression:serum: 3880 Faslg Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1553064 D RGD:14700708|PMID:15797225 20190813 RGD protein:increased expression:Kupffer cell: 3880 Faslg Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1553064 D RGD:14700708|PMID:15797225 20190813 RGD 3880 Faslg Fas ligand gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606342 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 3880 Faslg Fas ligand gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:13792603|PMID:29170412 20180917 RGD 3880 Faslg Fas ligand gene DOID:9008691 Liver Injury treatment ISO RGD:1553064 D RGD:14401579|PMID:11698468 20190513 RGD 3880 Faslg Fas ligand gene DOID:9008939 Breast Neoplasms ISO RGD:1606342 D RGD:2290134|PMID:10640988 20080226 RGD protein:increased expression:breast 3880 Faslg Fas ligand gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1606342 D RGD:2290054|PMID:17183065 20080226 RGD DNA:polymorphism:promoter:-844T>C 3880 Faslg Fas ligand gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606342 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3880 Faslg Fas ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606342 D RGD:2315750|PMID:16691186 20100112 RGD DNA:repeats:3' utr (human) 3880 Faslg Fas ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1606342 D RGD:11049149|PMID:16321857 20160405 RGD 3880 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus IDA D RGD:2315748|PMID:17324464 20100112 RGD 3880 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:2315742|PMID:19120316 20100112 RGD protein:increased expression:lymphocyte 3880 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:2315751|PMID:16180659 20100112 RGD mRNA:decreased expression:lymphocyte 3880 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus ISS RGD:1553064 D RGD:13592920 20180518 MouseDO OMIM:222100 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050469 Costello syndrome ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:10085122|PMID:10405326|PMID:10610467|PMID:10617660|PMID:11432788|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:15246915|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16777946|PMID:17101185|PMID:18533079|PMID:19033660|PMID:19150014|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22500102|PMID:22857948|PMID:23074333|PMID:23283745|PMID:24033266|PMID:24055113|PMID:24418317|PMID:24793961|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26507537|PMID:26681313|PMID:26743238|PMID:26914223|PMID:27022107|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28193612|PMID:28492532|PMID:28771489|PMID:29121657|PMID:2946667|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:33148509|PMID:34008892|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14745153|PMID:17587482 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:27022107|PMID:27036851|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:31918855|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:34008892|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33500567|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 3882 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 3882 Tnnt2 troponin T2, cardiac type gene DOID:0060480 left ventricular noncompaction ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:33500567|PMID:34691145|PMID:34697415 3882 Tnnt2 troponin T2, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241277|PMID:12600890 3882 Tnnt2 troponin T2, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732398 D RGD:1559062|PMID:7898523 19990101 RGD 3882 Tnnt2 troponin T2, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20530761|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9201030 3882 Tnnt2 troponin T2, cardiac type gene DOID:0080600 COVID-19 severity ISO RGD:732398 D RGD:32716368|PMID:32297828 20200625 RGD protein:increased expression:serum (human) 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:7240710 20130425 OMIM 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19061534|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19659763|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:23897817|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29016939|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29367541|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32746448 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34036930|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:7240710 20130425 OMIM 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15542288|PMID:16199547|PMID:19412328|PMID:20031601|PMID:20215591|PMID:20973921|PMID:21483645|PMID:23349452|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25524337|PMID:25741868|PMID:26084686|PMID:26498512|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:28492532|PMID:29367539|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32746448 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:15358028|PMID:16199547|PMID:19754353|PMID:24033266|PMID:24992688|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28973951|PMID:33025817|PMID:34213952|PMID:34540771 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732398 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 3882 Tnnt2 troponin T2, cardiac type gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:732398 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:11684629|PMID:12923187|PMID:14654368|PMID:15623536|PMID:15769782|PMID:15923195|PMID:17932326|PMID:18349139|PMID:18506004|PMID:18606313|PMID:19253838|PMID:21846512|PMID:22675533|PMID:23539503|PMID:24033266|PMID:24367593|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26656454|PMID:27532257|PMID:28492532 3882 Tnnt2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:7240710 20130221 OMIM 3882 Tnnt2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16651346|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18032382|PMID:18056765|PMID:18154728|PMID:18258667|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19087273|PMID:19150014|PMID:19275886|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20159828|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34350506|PMID:34426522|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714 3882 Tnnt2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:9788962 3882 Tnnt2 troponin T2, cardiac type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 3882 Tnnt2 troponin T2, cardiac type gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:732398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:12707239|PMID:20038417|PMID:22857948|PMID:23396983|PMID:25741868|PMID:28492532|PMID:33025817 3882 Tnnt2 troponin T2, cardiac type gene DOID:114 heart disease ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 3882 Tnnt2 troponin T2, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19087273 3882 Tnnt2 troponin T2, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732398 D RGD:1580440|PMID:12881443 19990101 RGD 3882 Tnnt2 troponin T2, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10449439|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18258667|PMID:18403758|PMID:18533079|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19087273|PMID:19150014|PMID:19487599|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20159828|PMID:20414521|PMID:20439259|PMID:20513729|PMID:20624503|PMID:20800588|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23396983|PMID:23494605|PMID:23663841|PMID:23674365|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24367593|PMID:24418317|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:25849606|PMID:26183555|PMID:26507537|PMID:26656175|PMID:26681313|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28073646|PMID:28193612|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28971120|PMID:28973951|PMID:29121657|PMID:2946667|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9788962 3882 Tnnt2 troponin T2, cardiac type gene DOID:12716 newborn respiratory distress syndrome ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 3882 Tnnt2 troponin T2, cardiac type gene DOID:1287 cardiovascular system disease ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14761428 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17556660|PMID:19477965 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:1580442|PMID:11684629 19990101 RGD 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:1540 parathyroid carcinoma ISO RGD:732398 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3882 Tnnt2 troponin T2, cardiac type gene DOID:2752 glycogen storage disease II ISO RGD:732398 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26787432 3882 Tnnt2 troponin T2, cardiac type gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18068611 3882 Tnnt2 troponin T2, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:14636924|PMID:16858239|PMID:18533079|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532 3882 Tnnt2 troponin T2, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:732398 D RGD:1580232|PMID:16651346 19990101 RGD 3882 Tnnt2 troponin T2, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10525521|PMID:10978365|PMID:11606294|PMID:12818575|PMID:12881443|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15542288|PMID:15958377|PMID:17101185|PMID:20031602|PMID:20624503|PMID:22112859|PMID:23283745|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27074551|PMID:28492532|PMID:29907873|PMID:7898523 3882 Tnnt2 troponin T2, cardiac type gene DOID:5844 myocardial infarction ISO RGD:732398 D RGD:1580441|PMID:15226628 19990101 RGD 3882 Tnnt2 troponin T2, cardiac type gene DOID:6000 congestive heart failure ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12322705|PMID:17698733 3882 Tnnt2 troponin T2, cardiac type gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 3882 Tnnt2 troponin T2, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12818575|PMID:12881443|PMID:14636924|PMID:15542288|PMID:15958377|PMID:17101185|PMID:17576681|PMID:22958901|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24503780|PMID:24992688|PMID:25741868|PMID:26507537|PMID:27153395|PMID:28255936|PMID:28492532|PMID:28973951|PMID:30297972|PMID:30763825|PMID:32880476|PMID:33025817|PMID:34213952|PMID:34540771|PMID:7898523|PMID:9536098 3882 Tnnt2 troponin T2, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 3882 Tnnt2 troponin T2, cardiac type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14618274 3882 Tnnt2 troponin T2, cardiac type gene DOID:9003936 Cardiomegaly ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17556660 3882 Tnnt2 troponin T2, cardiac type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 3882 Tnnt2 troponin T2, cardiac type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732398 D RGD:1580232|PMID:16651346 19990101 RGD 3882 Tnnt2 troponin T2, cardiac type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 3882 Tnnt2 troponin T2, cardiac type gene DOID:9005141 Ventricular Tachycardia ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12600890 3882 Tnnt2 troponin T2, cardiac type gene DOID:9005749 Necrosis ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 3882 Tnnt2 troponin T2, cardiac type gene DOID:9007102 Myocardial Ischemia ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 3882 Tnnt2 troponin T2, cardiac type gene DOID:9007588 Heart Injuries ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 3882 Tnnt2 troponin T2, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:732398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17556660 3882 Tnnt2 troponin T2, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:732398 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23233322|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 3882 Tnnt2 troponin T2, cardiac type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732398 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0080006 bone development disease ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:737137 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:737137 D RGD:1599490|PMID:12865991 20070206 RGD distal arthrogryposis type 2B, OMIM:601680 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:25337069|PMID:25741868 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:18414213|PMID:25741868|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:7240710 20200228 OMIM 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:25337069|PMID:25741868 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:737137 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:10907 microcephaly ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737137 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:630 genetic disease ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:28492532 3883 Tnnt3 troponin T3, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737137 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 3884 Tnp1 transition protein 1 gene DOID:630 genetic disease ISO RGD:733923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3884 Tnp1 transition protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733923 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3885 Tnp2 transition protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 3885 Tnp2 transition protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 3885 Tnp2 transition protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:736031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 3885 Tnp2 transition protein 2 gene DOID:630 genetic disease ISO RGD:736031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3886 Tnr tenascin R gene DOID:14330 Parkinson's disease ISO RGD:732585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26122175|PMID:26595808|PMID:28492532|PMID:33278868 3886 Tnr tenascin R gene DOID:1540 parathyroid carcinoma ISO RGD:732585 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 3886 Tnr tenascin R gene DOID:3755 antithrombin III deficiency ISO RGD:732585 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 3886 Tnr tenascin R gene DOID:630 genetic disease ISO RGD:732585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26122175|PMID:26595808|PMID:28492532|PMID:32099069|PMID:33278868 3886 Tnr tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:7240710 20220216 OMIM 3886 Tnr tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus PMID:25741868|PMID:28334938|PMID:32099069 3886 Tnr tenascin R gene DOID:9003281 Spontaneous Abortions ISO RGD:732585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 3886 Tnr tenascin R gene DOID:9007402 Gliosis ISO RGD:732585 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15120744 3886 Tnr tenascin R gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 3886 Tnr tenascin R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732585 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10930038|PMID:13678655|PMID:20737008 3889 Tp53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:151665099|PMID:26440310 20220310 RGD DNA:mutation:multiple (human) 3889 Tp53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 3889 Tp53 tumor protein p53 gene DOID:0002116 pterygium ISO RGD:70502 D RGD:8547760|PMID:19065760 20140221 RGD protein:altered expression:pterygia: 3889 Tp53 tumor protein p53 gene DOID:0050427 xeroderma pigmentosum ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:0050638 transthyretin amyloidosis ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:10432928|PMID:10589545|PMID:10922393|PMID:12826609|PMID:15037740|PMID:15977174|PMID:17015838|PMID:18307025|PMID:19101993|PMID:20128691|PMID:20407015|PMID:20805372|PMID:21343334|PMID:21356188|PMID:21761402|PMID:22923379|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24702488|PMID:25741868|PMID:26467025|PMID:26619011|PMID:27714481|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30816478|PMID:8118819|PMID:9242456|PMID:9662334 3889 Tp53 tumor protein p53 gene DOID:0050685 small cell carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17290066 3889 Tp53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16013437 3889 Tp53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:70502 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618665 3889 Tp53 tumor protein p53 gene DOID:0050745 diffuse large B-cell lymphoma ISS RGD:11440 D RGD:13592920 20180518 MouseDO 3889 Tp53 tumor protein p53 gene DOID:0050748 marginal zone lymphoma ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:0050834 CHARGE syndrome ISS RGD:11440 D RGD:13592920 20180518 MouseDO OMIM:214800 3889 Tp53 tumor protein p53 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:70502 D RGD:13210753|PMID:8264230 20170906 RGD 3889 Tp53 tumor protein p53 gene DOID:0050865 tongue squamous cell carcinoma IEP D RGD:8547851|PMID:20385474 20140226 RGD protein:increased expression:tongue: 3889 Tp53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:11440 D RGD:153344573|PMID:34111459 20220826 RGD protein:increased expression:mouth (human) 3889 Tp53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70502 D RGD:14995497|PMID:27283772 20191029 RGD DNA:missense mutations: :multiple 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:11440 D RGD:1302544|PMID:10783170 19990101 RGD 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28915717|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:70502 D RGD:8547823|PMID:11451203 20140225 RGD protein:increased expression:nucleus: 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome ISO RGD:70502 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10411893|PMID:10797439|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12826609|PMID:1359493|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:1631137|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17417627|PMID:17427234|PMID:17606709|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23538418|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24810334|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:11057925|PMID:25412846 20160505 RGD 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:11073714|PMID:24836762 20160504 RGD DNA:mutation: : 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:70502 D RGD:11073731|PMID:22668018 20160504 RGD DNA:SNP:cds: p.R72P(rs1042522)(human) 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:11073729|PMID:24043769 20160504 RGD 3889 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:11075071|PMID:25573287 20160505 RGD DNA:mutations: : 3889 Tp53 tumor protein p53 gene DOID:0060058 lymphoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19258306 3889 Tp53 tumor protein p53 gene DOID:0060058 lymphoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 3889 Tp53 tumor protein p53 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15982667|PMID:16007150|PMID:16312222|PMID:16818505|PMID:16861262|PMID:17606709|PMID:17724467|PMID:18453682|PMID:18555592|PMID:19012332|PMID:19171880|PMID:19468865|PMID:19556618|PMID:19913028|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20972454|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:24573247|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26230955|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27616075|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28802053|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29581140|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30730202|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:8023157|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627 3889 Tp53 tumor protein p53 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 3889 Tp53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 3889 Tp53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:14995494|PMID:28573231 20191029 RGD 3889 Tp53 tumor protein p53 gene DOID:0060074 ductal carcinoma in situ ISO RGD:70502 D RGD:2289931|PMID:17119686 20080318 RGD protein:increased expression:breast 3889 Tp53 tumor protein p53 gene DOID:0060074 ductal carcinoma in situ ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ductal carcinoma in situ PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 3889 Tp53 tumor protein p53 gene DOID:0070004 myeloid neoplasm ISO RGD:70502 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29370077 3889 Tp53 tumor protein p53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:70502 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:24033266|PMID:25741868|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:0080006 bone development disease ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 3889 Tp53 tumor protein p53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 3889 Tp53 tumor protein p53 gene DOID:0080199 colorectal carcinoma ISO RGD:70502 D RGD:14995498|PMID:29560751 20191029 RGD DNA:missense mutation::p.R72P (human) 3889 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 3889 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:18208484|PMID:19468865|PMID:20128691|PMID:20522432|PMID:21343334|PMID:21626334|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26619011|PMID:27489289|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29324801|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30720243|PMID:31775759|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 3889 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:14559903|PMID:16322298|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18818522|PMID:19468865|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27489289|PMID:27533082|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30630526|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:33332384|PMID:33372952|PMID:34805717|PMID:6736287|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 3889 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:70502 D RGD:8547828|PMID:16249115 20140225 RGD 3889 Tp53 tumor protein p53 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thyroid gland undifferentiated (anaplastic) carcinoma PMID:10864200|PMID:12672316|PMID:12826609|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16401470|PMID:16489069|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:20128691|PMID:20516128|PMID:20693561|PMID:21343334|PMID:21484931|PMID:21552135|PMID:21761402|PMID:22811390|PMID:22899716|PMID:23161690|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24677579|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:26332594|PMID:26467025|PMID:26619011|PMID:26681312|PMID:27374712|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30816478|PMID:31882575|PMID:33372952|PMID:36988593|PMID:7732013|PMID:8423216|PMID:9242456|PMID:9569050 3889 Tp53 tumor protein p53 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:70502 D RGD:11075072|PMID:22699455 20160505 RGD DNA:mutations: : 3889 Tp53 tumor protein p53 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 3889 Tp53 tumor protein p53 gene DOID:0081267 graft-versus-host disease ISO RGD:70502 D RGD:8547841|PMID:16393253 20140226 RGD protein:increased expression:epithelium 3889 Tp53 tumor protein p53 gene DOID:0081292 traumatic brain injury treatment IMP D RGD:14995939|PMID:27553877 20191101 RGD 3889 Tp53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:11440 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 3889 Tp53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 3889 Tp53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:8547768|PMID:20369488 20140221 RGD 3889 Tp53 tumor protein p53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:70502 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:7240710 20131030 OMIM 3889 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:10064694|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12779080|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15784129|PMID:1581912|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16229746|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16474844|PMID:16477330|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17903248|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18414213|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:1933902|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19806023|PMID:19834951 3889 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19958544|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21080251|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22356895|PMID:22373952|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22733133|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:23031740|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334666|PMID:23340422|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24218030|PMID:24219989|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25422255|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25503501|PMID:25512523|PMID:25516983 3889 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25525159|PMID:25527155|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27449771|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31321604|PMID:31365877|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977 3889 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:31749828|PMID:31775759|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32475984|PMID:32504211|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32899294|PMID:32916163|PMID:32930885|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33758026|PMID:33818021|PMID:34095982|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:35886069|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9764816|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:70502 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 3889 Tp53 tumor protein p53 gene DOID:10283 prostate cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10864200|PMID:11222779|PMID:11315715|PMID:11420676|PMID:11429705|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12826609|PMID:12917626|PMID:1467311|PMID:15004724|PMID:1565144|PMID:16489069|PMID:16818505|PMID:16827139|PMID:17576681|PMID:17606709|PMID:17724467|PMID:18511570|PMID:18685109|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20693561|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21519010|PMID:21535297|PMID:21552135|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23265383|PMID:24033266|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24677579|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25945745|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:28975465|PMID:29189820|PMID:29456621|PMID:29489754|PMID:29979965|PMID:30107858|PMID:30224644|PMID:30327374|PMID:31559875|PMID:32295079|PMID:7887414|PMID:7969167|PMID:8164043|PMID:8479749|PMID:9047394|PMID:9242456|PMID:9446663|PMID:9536098|PMID:9569050|PMID:9681828 3889 Tp53 tumor protein p53 gene DOID:10283 prostate cancer disease_progression ISO RGD:70502 D RGD:2290535|PMID:18225585 20080318 RGD DNA:mutations:exon 3889 Tp53 tumor protein p53 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9825943|PMID:9839505 3889 Tp53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:14995484|PMID:28387921 20191028 RGD DNA:missense mutation::p.R337H (human) 3889 Tp53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:14995495|PMID:27323394 20191029 RGD DNA:frameshift mutations,nonsense mutations, missense mutations: : multiple 3889 Tp53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:19101993|PMID:19127115|PMID:19378321|PMID:19556618|PMID:19717094|PMID:1978757|PMID:19877175|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23469205|PMID:23538418|PMID:23570263|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28864397|PMID:28873162|PMID:28961258|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33372952|PMID:34095982|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:10652 Alzheimer's disease ISO RGD:11440 D RGD:2290573|PMID:17581637 20080320 RGD 3889 Tp53 tumor protein p53 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:70502 D RGD:8547822|PMID:23049825 20140225 RGD DNA:polymorphism:cds:p.R72P(human) 3889 Tp53 tumor protein p53 gene DOID:10763 hypertension ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 3889 Tp53 tumor protein p53 gene DOID:10811 nasal cavity cancer ISO RGD:70502 D RGD:8547762|PMID:19950227 20140221 RGD 3889 Tp53 tumor protein p53 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70502 D RGD:8547787|PMID:9455944 20140224 RGD protein:increased expression:tympanic membrane,skin: 3889 Tp53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11376694|PMID:12706858 3889 Tp53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:70502 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:9610789|PMID:12376482|PMID:15906354|PMID:22929185|PMID:29644616 3889 Tp53 tumor protein p53 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:70502 D RGD:2290536|PMID:18208803 20080318 RGD protein:increased expression:urinary bladder 3889 Tp53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993 3889 Tp53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19258306 3889 Tp53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 3889 Tp53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27146902|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:28664506|PMID:28861920|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31321604|PMID:31775759|PMID:32000721|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9546439|PMID:9569050 3889 Tp53 tumor protein p53 gene DOID:1115 sarcoma onset IMP D RGD:11075090|PMID:21854749 20160506 RGD 3889 Tp53 tumor protein p53 gene DOID:1115 sarcoma treatment ISO RGD:70502 D RGD:151660332|PMID:31089155 20220303 RGD 3889 Tp53 tumor protein p53 gene DOID:11198 DiGeorge syndrome ISO RGD:11440 D RGD:155641238|PMID:25197075 20221103 RGD 3889 Tp53 tumor protein p53 gene DOID:1123 spondyloarthropathy ISO RGD:11440 D RGD:14995936|PMID:29494633 20191101 RGD 3889 Tp53 tumor protein p53 gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 3889 Tp53 tumor protein p53 gene DOID:11934 head and neck cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:20522432|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:26225655|PMID:27726232|PMID:28492532|PMID:28873162|PMID:30107858|PMID:31775759|PMID:36988593|PMID:9067756 3889 Tp53 tumor protein p53 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 3889 Tp53 tumor protein p53 gene DOID:12177 common variable immunodeficiency ISO RGD:70502 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:12336 male infertility ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 3889 Tp53 tumor protein p53 gene DOID:12361 Graves' disease susceptibility ISO RGD:70502 D RGD:8547807|PMID:17980001 20140224 RGD DNA:polymorphism:cds:p.p.R72P(human) 3889 Tp53 tumor protein p53 gene DOID:1240 leukemia disease_progression ISO RGD:70502 D RGD:11073730|PMID:26524016 20160504 RGD protein:increased expression:bone marrow: 3889 Tp53 tumor protein p53 gene DOID:12450 pancytopenia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 3889 Tp53 tumor protein p53 gene DOID:1324 lung cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10432928|PMID:10519380|PMID:10589545|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15138567|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16312222|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16778209|PMID:16818505|PMID:16827139|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17606709|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:19101993|PMID:19556618|PMID:19850740|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20522432|PMID:20805372|PMID:21113594|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22198284|PMID:22319594|PMID:22427690|PMID:22710932|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23265383|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24702488|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26070072|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26723900|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27523101|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30630526|PMID:30730202|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8023157|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9096669|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9635828|PMID:9662334|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:25741868|PMID:28492532|PMID:30146126 3889 Tp53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:70502 D RGD:8547763|PMID:22575263 20140221 RGD DNA:mutations:cds: 3889 Tp53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm treatment ISO RGD:70502 D RGD:8547764|PMID:23369851 20140221 RGD 3889 Tp53 tumor protein p53 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:70502 D RGD:7387247|PMID:20357201 20140220 RGD DNA:polymorphism:cds:p.R72P(rs1042522)(human) 3889 Tp53 tumor protein p53 gene DOID:13677 SAPHO syndrome ISO RGD:70502 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 3889 Tp53 tumor protein p53 gene DOID:1380 endometrial cancer ISS RGD:11440 D RGD:13592920 20180518 MouseDO OMIM:608089 3889 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31559875|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33372952|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation onset IMP D RGD:11075077|PMID:22917926 20160505 RGD 3889 Tp53 tumor protein p53 gene DOID:1520 colon carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:16489069|PMID:16596195|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21288114|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21747090|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23894400|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24952744|PMID:25157968|PMID:25525159|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28234344|PMID:28369373|PMID:28492532|PMID:29056573|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:33372952|PMID:36988593|PMID:7887414|PMID:8062826|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050 3889 Tp53 tumor protein p53 gene DOID:161 keratosis ISO RGD:70502 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:16930632|PMID:28785074 3889 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:14995502|PMID:26666818 20191029 RGD DNA:missense mutation: :p.R72P (human) 3889 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:7240710 20180711 OMIM 3889 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29489754|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33580201|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8633021|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 3889 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 3889 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:11440 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:19435901|PMID:25125259|PMID:27923803 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:11440 D RGD:8547790|PMID:18059331 20140224 RGD 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17979968|PMID:24224046 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8547794|PMID:9499192 20140224 RGD 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8547832|PMID:22545084 20140226 RGD DNA:polymorphism,mutations:cds: 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8547855|PMID:23776093 20140226 RGD protein:increased expression:oral mucosa: 3889 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:10557074|PMID:10713666|PMID:10754498|PMID:11590071|PMID:11793474|PMID:12779080|PMID:12826609|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15564800|PMID:1672732|PMID:16778209|PMID:16861262|PMID:18555592|PMID:21561095|PMID:25741868|PMID:26580448|PMID:26619011|PMID:27993330|PMID:28492532|PMID:29070607|PMID:29785153|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:31159747|PMID:32899294|PMID:9472631|PMID:9572492 3889 Tp53 tumor protein p53 gene DOID:1790 malignant mesothelioma ISO RGD:70502 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 3889 Tp53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23873029|PMID:26390243 3889 Tp53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3889 Tp53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:5490966|PMID:18772397 20110921 RGD DNA:mutations:exon 3889 Tp53 tumor protein p53 gene DOID:182 calcinosis ISO RGD:70502 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:17210701|PMID:21691232|PMID:22842228|PMID:29574239 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8547796|PMID:16094622 20140224 RGD 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8547833|PMID:23568549 20140226 RGD DNA:polymorphism:cds:p.R72P(human) 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:2113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22540896|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22844452|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24766216|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:32475984|PMID:33372952|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32475984|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33758026|PMID:34026625|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496 3889 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11440 D RGD:242905202|PMID:31757932 20230328 RGD 3889 Tp53 tumor protein p53 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:2154 nephroblastoma ISO RGD:70502 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 3889 Tp53 tumor protein p53 gene DOID:2316 brain ischemia ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 3889 Tp53 tumor protein p53 gene DOID:2394 ovarian cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10435620|PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17541742|PMID:17606709|PMID:18511570|PMID:18555592|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21761402|PMID:22186996|PMID:22811390|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:29070607|PMID:29300620|PMID:29365323|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:32000721|PMID:33300245|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9572492|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11511317|PMID:21946351|PMID:26950094 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:7240710 20150610 OMIM 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8547844|PMID:9539248 20140226 RGD DNA:mutations:cds: 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8547848|PMID:10677095 20140226 RGD 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16736287|PMID:16741917|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478 3889 Tp53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:30840781|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:2531 hematologic cancer ISO RGD:70502 D RGD:14995484|PMID:28387921 20191028 RGD DNA:missense mutation::p.R337H (human) 3889 Tp53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:7240710 20130221 OMIM 3889 Tp53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22929185 3889 Tp53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:2290532|PMID:18270948 20080318 RGD protein:increased expression:bladder 3889 Tp53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16736287|PMID:1673792|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934 3889 Tp53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505 3889 Tp53 tumor protein p53 gene DOID:2729 dyskeratosis congenita ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:2729 dyskeratosis congenita ISS RGD:11440 D RGD:13592920 20180518 MouseDO 3889 Tp53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma ISO RGD:70502 D RGD:2290541|PMID:1540970 20080318 RGD DNA:missense mutations 3889 Tp53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:1540970|REF_RGD_ID:2290541 3889 Tp53 tumor protein p53 gene DOID:2871 endometrial carcinoma IMP D RGD:11075084|PMID:26353976 20160505 RGD DNA:mutations: : 3889 Tp53 tumor protein p53 gene DOID:2871 endometrial carcinoma ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:2871 endometrial carcinoma severity ISO RGD:70502 D RGD:2298525|PMID:18431720 20080708 RGD protein:increased expression:epithelial cell, endometrium 3889 Tp53 tumor protein p53 gene DOID:299 adenocarcinoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7955072|PMID:16247444 3889 Tp53 tumor protein p53 gene DOID:299 adenocarcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10797276|PMID:11798837|PMID:22484628 3889 Tp53 tumor protein p53 gene DOID:299 adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25860607 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:2290542|PMID:1631137 20080318 RGD DNA:missense mutations 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10064694|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10697617|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11263856|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11518751|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12076704|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14656244|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15342977|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16333835|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18477611|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:19763152|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20307669|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056402|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21339461|PMID:21343334|PMID:2134334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22267198|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22387016|PMID:22406018|PMID:22427690|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23580068|PMID:23612572|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:23733769|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24940547|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25374282|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25762628|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25877891|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29225734|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:3022464|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7936651|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 3889 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9723024|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:3021 acute kidney failure ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20603111 3889 Tp53 tumor protein p53 gene DOID:305 carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9626339|PMID:17450239 3889 Tp53 tumor protein p53 gene DOID:3052 Balkan nephropathy ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 3889 Tp53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356 3889 Tp53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31494577|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34299313|PMID:34308366|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:3068 glioblastoma ISS RGD:11440 D RGD:13592920 20180518 MouseDO 3889 Tp53 tumor protein p53 gene DOID:3069 malignant astrocytoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20176786 3889 Tp53 tumor protein p53 gene DOID:3069 malignant astrocytoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant astrocytoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:11440 D RGD:13702858|PMID:24038521 20180719 RGD DNA:nonsense mutation:cds: 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16899598|PMID:21946351|PMID:24705251 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:2290571|PMID:17599090 20080708 RGD 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:7240710 20230505 OMIM 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28476805|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162 3889 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:3078 anaplastic astrocytoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17274270 3889 Tp53 tumor protein p53 gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:70502 D RGD:8662305|PMID:16012716 20140619 RGD 3889 Tp53 tumor protein p53 gene DOID:3121 gallbladder cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11051239|PMID:11370630|PMID:11782540|PMID:12406399|PMID:12506399|PMID:12826609|PMID:14673037|PMID:15925506|PMID:15993273|PMID:16199547|PMID:1631137|PMID:16489069|PMID:16818505|PMID:16861262|PMID:16969106|PMID:17417627|PMID:17427234|PMID:17567834|PMID:17606709|PMID:18978813|PMID:19378321|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21665182|PMID:21761402|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23484829|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24382691|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25516983|PMID:25544776|PMID:25587027|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26718964|PMID:26787237|PMID:26911350|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28160093|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29025599|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30720243|PMID:31105275|PMID:31742824|PMID:31775759|PMID:32817165|PMID:33471991|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:8688334|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3213 demyelinating disease ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18550754 3889 Tp53 tumor protein p53 gene DOID:3247 rhabdomyosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519384|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11420676|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12610779|PMID:12672316|PMID:12826609|PMID:1467311|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15951970|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16682957|PMID:1673792|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19367569|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20455025|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22319594|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23538418|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24728327|PMID:24764719|PMID:24810334|PMID:25157968|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28861920|PMID:28873162|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30816478|PMID:31016814|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33300245|PMID:33372952|PMID:36988593|PMID:7706467|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8062826|PMID:8364550|PMID:8423216|PMID:8633021|PMID:9067756|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9681828 3889 Tp53 tumor protein p53 gene DOID:326 ischemia IEP D RGD:2290551|PMID:18337831 20080319 RGD associated with Wounds and Injuries;protein:increased expression:skin 3889 Tp53 tumor protein p53 gene DOID:326 ischemia ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 3889 Tp53 tumor protein p53 gene DOID:3275 thymoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 3889 Tp53 tumor protein p53 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17434459 3889 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma IMP D RGD:12738450|PMID:27528400 20210428 RGD 3889 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 3889 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16211088 3889 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:7240710 20130221 OMIM 3889 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:3376 bone osteosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:3393 coronary artery disease ISO RGD:70502 D RGD:14995930|PMID:29482350 20191031 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) 3889 Tp53 tumor protein p53 gene DOID:3407 carotid artery disease ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 3889 Tp53 tumor protein p53 gene DOID:3458 breast adenocarcinoma ISO RGD:11440 D RGD:2315939|PMID:11146550 20220228 RGD 3889 Tp53 tumor protein p53 gene DOID:3458 breast adenocarcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920959|PMID:12826609|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17606709|PMID:20128691|PMID:20522432|PMID:21343334|PMID:23625637|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29324801|PMID:29470806|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30630526|PMID:33372952|PMID:7881428|PMID:8364550 3889 Tp53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14584079|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:1978757|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23210734|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25408419|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11440 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 3889 Tp53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19171880|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481 3889 Tp53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3702 cervical adenocarcinoma disease_progression ISO RGD:70502 D RGD:2298527|PMID:17354237 20080708 RGD 3889 Tp53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:14995496|PMID:30554333 20191029 RGD DNA:missense mutations, loss of heterozygosity:multiple 3889 Tp53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390 3889 Tp53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:70502 D RGD:2298526|PMID:17969407 20080708 RGD 3889 Tp53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11440 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 3889 Tp53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 3889 Tp53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:14995932|PMID:28789369 20191031 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727 3889 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma ISO RGD:70502 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:17290066|PMID:23435014|PMID:24688052|PMID:30381462 3889 Tp53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma ISO RGD:70502 D RGD:5133242|PMID:20951313 20110608 RGD 3889 Tp53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70502 D RGD:150404268|PMID:23632475 20210903 RGD human cells in mouse model 3889 Tp53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:11440 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:26206333 3889 Tp53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627 3889 Tp53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:3948 adrenocortical carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9815696|PMID:23585556|PMID:24747642 3889 Tp53 tumor protein p53 gene DOID:3948 adrenocortical carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10229196|PMID:10567903|PMID:10864200|PMID:10871862|PMID:11051241|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14584079|PMID:15017592|PMID:15037740|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17308077|PMID:17401428|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18937320|PMID:18989156|PMID:19147582|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19468865|PMID:19681600|PMID:19850740|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:21159183|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22484423|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23894400|PMID:23967324|PMID:24033266|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24940547|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29070607|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32401780|PMID:33208383|PMID:33332384|PMID:33372952|PMID:33471991|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8164043|PMID:8423216|PMID:8479749|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9242456|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9569050|PMID:9572492 3889 Tp53 tumor protein p53 gene DOID:4001 ovarian carcinoma ISO RGD:70502 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25535366 3889 Tp53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208 3889 Tp53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:4247 coronary restenosis ISO RGD:70502 D RGD:1580742|PMID:14740296 19990101 RGD 3889 Tp53 tumor protein p53 gene DOID:4362 cervical cancer ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:12826609|PMID:1349102|PMID:15982667|PMID:16754663|PMID:1849234|PMID:19913028|PMID:20516128|PMID:20538734|PMID:22110706|PMID:25131192|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30374176|PMID:30816478|PMID:9407971 3889 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17275163|PMID:22138691|PMID:23797736|PMID:25401301 3889 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70502 D RGD:2290544|PMID:17094408 20080318 RGD 3889 Tp53 tumor protein p53 gene DOID:4465 papillary renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11668501|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20805372|PMID:21056685|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21761402|PMID:22265402|PMID:22887876|PMID:22923379|PMID:23031740|PMID:23259501|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25584008|PMID:25741868|PMID:25945745|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27328919|PMID:27714481|PMID:27873457|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30730202|PMID:30816478|PMID:31300551|PMID:31775759|PMID:32817165|PMID:33300245|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 3889 Tp53 tumor protein p53 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70502 D RGD:15036804|PMID:28551630 20191115 RGD mRNA, protein:increased expression:kidney 3889 Tp53 tumor protein p53 gene DOID:4468 clear cell adenocarcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 3889 Tp53 tumor protein p53 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:11370630|PMID:12826609|PMID:1349175|PMID:1565143|PMID:1565144|PMID:17606709|PMID:19012332|PMID:19468865|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21761402|PMID:22672556|PMID:23161690|PMID:24573247|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:26014290|PMID:26619011|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30816478|PMID:32000721|PMID:32475984|PMID:8401536|PMID:8718514|PMID:8829627 3889 Tp53 tumor protein p53 gene DOID:4905 pancreatic carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18818522|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24797764|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26000489|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27101868|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28873162|PMID:29059199|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32658383|PMID:33208383|PMID:33372952|PMID:33818021|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7981076|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8513440|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:4914 esophagus adenocarcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 3889 Tp53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma IMP D RGD:11075076|PMID:26059825 20160505 RGD DNA:mutations:exons: 3889 Tp53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 3889 Tp53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 3889 Tp53 tumor protein p53 gene DOID:4948 gallbladder carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:10616528|PMID:11370630|PMID:11593407|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12509279|PMID:12726864|PMID:12826609|PMID:15077194|PMID:15607980|PMID:15607981|PMID:1565143|PMID:16209708|PMID:16312222|PMID:16401470|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17530187|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19462533|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20516128|PMID:21113594|PMID:21343334|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22233476|PMID:22427690|PMID:22553421|PMID:22887876|PMID:23031740|PMID:23259501|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24573247|PMID:25433984|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25927356|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26497680|PMID:26585234|PMID:26619011|PMID:26911350|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30720243|PMID:30730202|PMID:30840781|PMID:31119730|PMID:31775759|PMID:32658383|PMID:33245408|PMID:33257846|PMID:8023157|PMID:8062826|PMID:8164043|PMID:8336941|PMID:8401536|PMID:8633021|PMID:8825920|PMID:8829653|PMID:9049183|PMID:9290701|PMID:9546439|PMID:9632751 3889 Tp53 tumor protein p53 gene DOID:4971 myelofibrosis disease_progression ISO RGD:70502 D RGD:11073713|PMID:26123119 20160504 RGD associated with Myelodysplastic Syndromes; 3889 Tp53 tumor protein p53 gene DOID:5041 esophageal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:11101847|PMID:11782540|PMID:12007217|PMID:12619118|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15977174|PMID:16401470|PMID:16489069|PMID:16818505|PMID:17606709|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19405127|PMID:19881536|PMID:19930417|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20689556|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24033266|PMID:24573247|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26534844|PMID:26585234|PMID:26619011|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28492532|PMID:28873162|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:36988593|PMID:8164043|PMID:8825920|PMID:9047394|PMID:9242456 3889 Tp53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188|PMID:22941189 3889 Tp53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20455025|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29263802|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883 3889 Tp53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27149858|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826 3889 Tp53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:5419 schizophrenia ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25086664|PMID:30594912 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:4122735 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:7565304|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10064694|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134 3889 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33504652|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:5648 choroid plexus carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:18762572|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:16007150|PMID:16199547|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17576681|PMID:17606709|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19930417|PMID:19933256|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20504876|PMID:20505364|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21626334|PMID:21666498|PMID:22170717|PMID:22186996|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23667851|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25056374|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9667734|PMID:9681828 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:5744 ovary serous adenocarcinoma ISO RGD:70502 D RGD:2290540|PMID:1310251 20080318 RGD DNA, protein:loss of heterozygosity, increased expression:ovary 3889 Tp53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136 3889 Tp53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:5773 oral submucous fibrosis ISO RGD:70502 D RGD:8547855|PMID:23776093 20140226 RGD protein:increased expression:oral mucosa: 3889 Tp53 tumor protein p53 gene DOID:5844 myocardial infarction ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 3889 Tp53 tumor protein p53 gene DOID:6000 congestive heart failure ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 3889 Tp53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10064694|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18989156|PMID:19101993|PMID:1915267|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145 3889 Tp53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505 3889 Tp53 tumor protein p53 gene DOID:6179 ovarian small cell carcinoma ISO RGD:70502 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type 3889 Tp53 tumor protein p53 gene DOID:6432 pulmonary hypertension treatment ISO RGD:11440 D RGD:10043360|PMID:24334871 20150522 RGD 3889 Tp53 tumor protein p53 gene DOID:6536 plasma cell neoplasm ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:657 adenoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21946351 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma IEP D RGD:14995934|PMID:29429512 20191101 RGD 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16651430|PMID:19919837 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:11440 D RGD:127285675|PMID:28100771 20210628 RGD mRNA:increased expression:liver (mouse) 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:11440 D RGD:1302543|PMID:7704023 20150205 RGD protein:altered localization:cytoplasm, nucleus 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8033108|PMID:9029167|PMID:17191126|PMID:18477611|PMID:22675488|PMID:25822088 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:14995503|PMID:29749584 20191029 RGD DNA:missense mutation: :p.R249S (human) 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:7240710 20130221 OMIM 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:32899294|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32899294|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:34299313|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 3889 Tp53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:12826609|PMID:25741868|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 3889 Tp53 tumor protein p53 gene DOID:687 hepatoblastoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12826609|PMID:1565143|PMID:17606709|PMID:19556618|PMID:20128691|PMID:21343334|PMID:22887876|PMID:23031740|PMID:25741868|PMID:26585234|PMID:26619011|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31775759|PMID:8401536|PMID:8633021 3889 Tp53 tumor protein p53 gene DOID:700 mitochondrial metabolism disease ISO RGD:70502 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 3889 Tp53 tumor protein p53 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:70502 D RGD:5688732|PMID:15838728 20140220 RGD DNA:polymorphism:cds:p.R72P(human) 3889 Tp53 tumor protein p53 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:70502 D RGD:14995501|PMID:28930868 20191029 RGD DNA:missense mutations: :multiple 3889 Tp53 tumor protein p53 gene DOID:7614 meninges sarcoma IMP D RGD:12738450|PMID:27528400 20210428 RGD 3889 Tp53 tumor protein p53 gene DOID:769 neuroblastoma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814359 3889 Tp53 tumor protein p53 gene DOID:769 neuroblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10064694|PMID:10864200|PMID:11896595|PMID:12826609|PMID:15925506|PMID:17390010|PMID:17572079|PMID:19850740|PMID:20407015|PMID:21305319|PMID:21343334|PMID:23894400|PMID:25293557|PMID:25741868|PMID:26619011|PMID:27493922|PMID:28492532|PMID:29979965|PMID:30224644|PMID:34026625|PMID:7651740|PMID:9546439 3889 Tp53 tumor protein p53 gene DOID:83 cataract ISO RGD:11440 D RGD:8547757|PMID:21504908 20140220 RGD 3889 Tp53 tumor protein p53 gene DOID:8418 congenital fibrosarcoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile fibrosarcoma PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:8541 Sezary's disease ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 3889 Tp53 tumor protein p53 gene DOID:8577 ulcerative colitis ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:863 nervous system disease ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 3889 Tp53 tumor protein p53 gene DOID:8632 Kaposi's sarcoma ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:8725 vascular dementia IEP D RGD:2290557|PMID:18083315 20080319 RGD protein:increased expression:brain 3889 Tp53 tumor protein p53 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:11370630|PMID:20522432|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:8893 psoriasis ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 3889 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 3889 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496 3889 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:24997986 3889 Tp53 tumor protein p53 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10412063|PMID:23595775 20151113 RGD protein:increased expression:spinal cord 3889 Tp53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:11440 D RGD:8547790|PMID:18059331 20140224 RGD associated with Carcinoma, Squamous Cell; 3889 Tp53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:2290533|PMID:18268397 20080318 RGD associated with Penile Neoplasms 3889 Tp53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:2290534|PMID:18230179 20080318 RGD associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P 3889 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms IEP D RGD:11075085|PMID:26439224 20160505 RGD protein:increased expression:esophageal mucosa: 3889 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12706858 3889 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:8547873|PMID:16778087 20140227 RGD 3889 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634542|PMID:26192916 3889 Tp53 tumor protein p53 gene DOID:9000217 Stomach Neoplasms ISO RGD:11440 D RGD:8547873|PMID:16778087 20140227 RGD 3889 Tp53 tumor protein p53 gene DOID:9000217 Stomach Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628|PMID:24816253 3889 Tp53 tumor protein p53 gene DOID:9000217 Stomach Neoplasms ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:11040944|PMID:11391594|PMID:11782540|PMID:12826609|PMID:15173255|PMID:15580553|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17606709|PMID:17727479|PMID:19367569|PMID:19714488|PMID:20407015|PMID:21232794|PMID:21343334|PMID:21512767|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22652532|PMID:22710932|PMID:22915647|PMID:23246812|PMID:23484829|PMID:23894400|PMID:24033266|PMID:24728327|PMID:24868540|PMID:25527155|PMID:25637381|PMID:25741868|PMID:25952993|PMID:26086041|PMID:26230955|PMID:26467025|PMID:26585234|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28125078|PMID:28492532|PMID:28772286|PMID:28861920|PMID:29300620|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30374176|PMID:30883245|PMID:31016814|PMID:31159747|PMID:31749828|PMID:8198984|PMID:8203469|PMID:9865903 3889 Tp53 tumor protein p53 gene DOID:9000227 Hypogonadism and Testicular Atrophy IMP D RGD:14995504|PMID:28834365 20210928 RGD 3889 Tp53 tumor protein p53 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 3889 Tp53 tumor protein p53 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 3889 Tp53 tumor protein p53 gene DOID:9000647 Acute Erythroleukemia ISO RGD:70502 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 3889 Tp53 tumor protein p53 gene DOID:9000906 Oropharyngeal Neoplasms disease_progression ISO RGD:70502 D RGD:8547874|PMID:11072161 20140227 RGD 3889 Tp53 tumor protein p53 gene DOID:9000918 Disease Progression ISO RGD:70502 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 3889 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:11075090|PMID:21854749 20160506 RGD associated with Sarcoma; 3889 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:23873029|PMID:27137931 3889 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17949449 3889 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9001510 Funnel Chest ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:11440 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 3889 Tp53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 3889 Tp53 tumor protein p53 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14961032 3889 Tp53 tumor protein p53 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2290561|PMID:17901943 20080319 RGD associated with Diabetes Mellitus, Experimental 3889 Tp53 tumor protein p53 gene DOID:9002170 Experimental Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12756225|PMID:27137931 3889 Tp53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16439677 3889 Tp53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34026625|PMID:34308366|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9825943|PMID:9839505 3889 Tp53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:70502 D RGD:11075074|PMID:10867151 20160505 RGD DNA:deletion: : 3889 Tp53 tumor protein p53 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70502 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:16434975|PMID:17202838|PMID:20875869|PMID:21946351|PMID:25735316|PMID:26005866|PMID:29295717|PMID:29610475 3889 Tp53 tumor protein p53 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70502 D RGD:8693397|PMID:23759327 20140715 RGD 3889 Tp53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:11440 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 3889 Tp53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:70502 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 3889 Tp53 tumor protein p53 gene DOID:9002641 Bone Marrow Neoplasms disease_progression ISO RGD:70502 D RGD:11073734|PMID:24761810 20160504 RGD 3889 Tp53 tumor protein p53 gene DOID:9002644 Premature Aging ISO RGD:11440 D RGD:10045876|PMID:19500727 20150619 RGD mRNA:decreased expression:liver: 3889 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 3889 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10064694|PMID:10229196|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11420676|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349102|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14673037|PMID:14965603|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15308588|PMID:15342977|PMID:15381368|PMID:15390294|PMID:15564800|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:1672732|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18391940|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20478780|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21665182|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22862161|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23409989|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23625637|PMID:23630318|PMID:23639785|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24251760|PMID:24256616 3889 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:24278325|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24744791|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24835311|PMID:24929325|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25226867|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25612911|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25981898|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29946497|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31559875|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32029870|PMID:32295079|PMID:32475984|PMID:32555031|PMID:32658383|PMID:32817165|PMID:32899294|PMID:32930885|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33504652|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34095982|PMID:34299313|PMID:34529667|PMID:34805717|PMID:34906512|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:7978053|PMID:8023157|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8208536|PMID:8242631|PMID:8302608|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9452042|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9825943|PMID:9839505 3889 Tp53 tumor protein p53 gene DOID:9002775 Cognitive Dysfunction ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9002884 Emphysema ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22276220 3889 Tp53 tumor protein p53 gene DOID:9002928 Colonic Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17075118|PMID:17192441|PMID:26192916 3889 Tp53 tumor protein p53 gene DOID:9002928 Colonic Neoplasms ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:12826609|PMID:20978130|PMID:24549055|PMID:25741868|PMID:28492532|PMID:28861920|PMID:30224644|PMID:33471991 3889 Tp53 tumor protein p53 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:70502 D RGD:11073725|PMID:21706156 20160504 RGD associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) 3889 Tp53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:8547838|PMID:12120703 20140226 RGD DNA:mutations: : 3889 Tp53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:8547841|PMID:16393253 20140226 RGD protein:increased expression:epithelium 3889 Tp53 tumor protein p53 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 3889 Tp53 tumor protein p53 gene DOID:9003196 Penile Neoplasms ISO RGD:70502 D RGD:11554173 20200422 CTD CTD Direct Evidence: marker/mechanism PMID:9626339 3889 Tp53 tumor protein p53 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10567903|PMID:10589545|PMID:10914716|PMID:11051239|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12826609|PMID:14673037|PMID:15825182|PMID:15925506|PMID:16288208|PMID:1631151|PMID:16337994|PMID:16818505|PMID:16861262|PMID:17606709|PMID:18555592|PMID:18818522|PMID:18989156|PMID:19367569|PMID:19681600|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20878954|PMID:21115975|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23265383|PMID:23334668|PMID:24590827|PMID:25294809|PMID:25504633|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26781615|PMID:27179933|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28160093|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29470806|PMID:29753700|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:32000721|PMID:33471991|PMID:34308366|PMID:34994652|PMID:7737263|PMID:8023157|PMID:8344492|PMID:8464896|PMID:8633021|PMID:9020384|PMID:9157982|PMID:9268986|PMID:9572492 3889 Tp53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:7240710 20190315 OMIM 3889 Tp53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 5 PMID:10432928|PMID:10519380|PMID:10589545|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11370630|PMID:11403041|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15355915|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16818505|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29489754|PMID:29979965|PMID:30146126|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9003566 Mesothelioma ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151629 3889 Tp53 tumor protein p53 gene DOID:9003571 Paraproteinemias ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9003694 Cecal Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 3889 Tp53 tumor protein p53 gene DOID:9004009 Reperfusion Injury IEP D RGD:2290568|PMID:17661174 20080319 RGD protein:increased expression:brain, mitochondrion 3889 Tp53 tumor protein p53 gene DOID:9004059 Eye Neoplasms ISO RGD:11440 D RGD:8547757|PMID:21504908 20230428 RGD 3889 Tp53 tumor protein p53 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20176786 3889 Tp53 tumor protein p53 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:70502 D RGD:2290545|PMID:16889904 20080318 RGD 3889 Tp53 tumor protein p53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:70502 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868|PMID:28492532 3889 Tp53 tumor protein p53 gene DOID:9004397 calcification of aortic valve ISO RGD:11440 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 3889 Tp53 tumor protein p53 gene DOID:9004397 calcification of aortic valve ISO RGD:70502 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 3889 Tp53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:11440 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:27923803 3889 Tp53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12635827 3889 Tp53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:8547834|PMID:21123835 20140226 RGD DNA:polymorphism,mutations:cds:p.R72P(human) 3889 Tp53 tumor protein p53 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:70502 D RGD:11073715|PMID:24732641 20160504 RGD associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) 3889 Tp53 tumor protein p53 gene DOID:9004547 Thyroid Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16940797 3889 Tp53 tumor protein p53 gene DOID:9004547 Thyroid Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9004643 Urologic Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 3889 Tp53 tumor protein p53 gene DOID:9004997 Pediatric Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric PMID:10864200|PMID:11051239|PMID:11481490|PMID:11600572|PMID:11753428|PMID:12826609|PMID:15121773|PMID:15741269|PMID:16033918|PMID:16494995|PMID:18248785|PMID:18762572|PMID:19717094|PMID:19877175|PMID:20301488|PMID:20407015|PMID:21192060|PMID:22507745|PMID:23469205|PMID:23570263|PMID:23733769|PMID:23894400|PMID:24884479|PMID:24936644|PMID:25584008|PMID:25741868|PMID:26452166|PMID:26572807|PMID:26681051|PMID:27223487|PMID:27663983|PMID:27714481|PMID:28369373|PMID:28387921|PMID:28472496|PMID:28492532|PMID:28756477|PMID:28864397|PMID:28968711|PMID:28984303|PMID:30107858|PMID:36988593|PMID:9704930|PMID:9704931 3889 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:7240710 20130221 OMIM 3889 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18199664|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18393224|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19165225|PMID:19224462|PMID:19367569|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21637529|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22507745|PMID:22652532|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23403321|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23580068|PMID:23624782|PMID:23630318|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24448499|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24663046|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25348012|PMID:25452441|PMID:25503501|PMID:25516983|PMID:25527155|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27153395|PMID:27157322|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29769598|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30212483|PMID:30224644|PMID:30287823|PMID:30327374 3889 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:30374176|PMID:30588330|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31159747|PMID:31321604|PMID:31742824|PMID:31749828|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:32675277|PMID:32817165|PMID:33120919|PMID:33257846|PMID:33372952|PMID:33471991|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8352280|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9865903|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9005161 Thymus Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10850423 3889 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms IMP D RGD:11075092|PMID:10564948 20160506 RGD DNA:transitional mutations:exons: 3889 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16247444|PMID:26390243 3889 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:70502 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8049841|PMID:11798837|PMID:16410370|PMID:17325666|PMID:20727180|PMID:26192916 3889 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:10589545|PMID:10914716|PMID:11370630|PMID:11782540|PMID:11920788|PMID:12007217|PMID:12124823|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15825182|PMID:16288208|PMID:1631151|PMID:16401470|PMID:16494995|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18555592|PMID:19468865|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20516128|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22186996|PMID:22233476|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23792586|PMID:24033266|PMID:24384472|PMID:24573247|PMID:24728327|PMID:25503501|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28861920|PMID:29489754|PMID:29979965|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:33245408|PMID:33257846|PMID:33332384|PMID:6736287|PMID:7707106|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8164043|PMID:8344492|PMID:8464896|PMID:8633021|PMID:8825920|PMID:8869100|PMID:9546439|PMID:9632751 3889 Tp53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2290577|PMID:17470299 20080320 RGD 3889 Tp53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24809783 3889 Tp53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:11440 D RGD:2290539|PMID:18092324 20080318 RGD 3889 Tp53 tumor protein p53 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:70502 D RGD:14995484|PMID:28387921 20191028 RGD DNA:missense mutation::p.R337H (human) 3889 Tp53 tumor protein p53 gene DOID:9005642 Odontogenic Myxoma ISO RGD:70502 D RGD:8547808|PMID:22011900 20140224 RGD DNA:hypomethylation:promotor: 3889 Tp53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8662307|PMID:24828139 20140619 RGD 3889 Tp53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21078376 3889 Tp53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792339 3889 Tp53 tumor protein p53 gene DOID:9005779 Polyploidy ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 3889 Tp53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms IEP D RGD:14995938|PMID:30514679 20191101 RGD 3889 Tp53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:7502 D RGD:2290537|PMID:16033093 20080318 RGD protein:increased expression:vulva 3889 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms IEP D RGD:8547872|PMID:9485768 20140227 RGD protein:increased expression:tongue: 3889 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms IMP D RGD:8547871|PMID:12167434 20140227 RGD DNA:mutations:cds: 3889 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 3889 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:70502 D RGD:8547850|PMID:21903770 20140226 RGD 3889 Tp53 tumor protein p53 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:20522432|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:26225655|PMID:27726232|PMID:28492532|PMID:28873162|PMID:30107858|PMID:31775759|PMID:36988593|PMID:9067756 3889 Tp53 tumor protein p53 gene DOID:9006205 Animal Disease Models ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23873029 3889 Tp53 tumor protein p53 gene DOID:9006657 Colon Diverticulum ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic diverticula PMID:16969106|PMID:17567834|PMID:19556618|PMID:19711436|PMID:19714490|PMID:20436704|PMID:20522432|PMID:21519010|PMID:21665182|PMID:21761402|PMID:22186996|PMID:23484829|PMID:24033266|PMID:24382691|PMID:25516983|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26718964|PMID:26911350|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:30224644|PMID:31742824 3889 Tp53 tumor protein p53 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 3889 Tp53 tumor protein p53 gene DOID:9006864 Trigeminal Nerve Injuries IEP D RGD:8547771|PMID:22977862 20140221 RGD 3889 Tp53 tumor protein p53 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10507764|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12509970|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:1562462|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16061860|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18978813|PMID:19012332|PMID:19020536|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19160491|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24853176 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29174094|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32916163|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34390506|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34906512|PMID:34961499|PMID:35050731|PMID:35886069|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 3889 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:9007150 Urogenital Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 3889 Tp53 tumor protein p53 gene DOID:9007188 Liver Neoplasms ISO RGD:70502 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16410370 3889 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms IEP D RGD:2290572|PMID:17595763 20080320 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium 3889 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 3889 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:8547873|PMID:16778087 20140227 RGD 3889 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 3889 Tp53 tumor protein p53 gene DOID:9007400 Lip Neoplasms ISO RGD:70502 D RGD:8662391|PMID:17238970 20140623 RGD 3889 Tp53 tumor protein p53 gene DOID:9007456 Female Infertility ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22532853 3889 Tp53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16860786 3889 Tp53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745 3889 Tp53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 3889 Tp53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 3889 Tp53 tumor protein p53 gene DOID:9007661 Dwarfism ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Short stature PMID:11051239|PMID:11782540|PMID:12826609|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31775759|PMID:36988593|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9242456|PMID:9598730|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 3889 Tp53 tumor protein p53 gene DOID:9007715 Endometrial Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7955072 3889 Tp53 tumor protein p53 gene DOID:9007715 Endometrial Neoplasms ISO RGD:70502 D RGD:4143515|PMID:19078924 20100930 RGD 3889 Tp53 tumor protein p53 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2290554|PMID:18317410 20080319 RGD protein:increased expression:heart 3889 Tp53 tumor protein p53 gene DOID:9007964 Arsenic Poisoning ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621066|PMID:19203779 3889 Tp53 tumor protein p53 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11668501|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20805372|PMID:21056685|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21761402|PMID:22265402|PMID:22887876|PMID:22923379|PMID:23031740|PMID:23259501|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25584008|PMID:25741868|PMID:25945745|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27328919|PMID:27714481|PMID:27873457|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30730202|PMID:30816478|PMID:31300551|PMID:31775759|PMID:32817165|PMID:33300245|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 3889 Tp53 tumor protein p53 gene DOID:9008138 Ductal Carcinoma ISO RGD:70502 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 3889 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12645814|PMID:15172127|PMID:15814641|PMID:16110022|PMID:16524972|PMID:17949449|PMID:18676755|PMID:21946351 3889 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876 3889 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 3889 Tp53 tumor protein p53 gene DOID:9008828 Li-Fraumeni-Like Syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-fraumeni-like syndrome PMID:10519380|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:1679237|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:19930417|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:25157968|PMID:25186627|PMID:2531845|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27276934|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32475984|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7791795|PMID:8023157|PMID:8134127|PMID:8164043|PMID:8401536|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734|PMID:9839505 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12165863 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:15802278|PMID:16968874|PMID:17388661|PMID:26192916|PMID:26229107|PMID:30381462 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:1331525|PMID:15118671 19990101 GAD 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:2290531|PMID:2250913 20080318 RGD DNA:mutations:exon 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10064694|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23538418|PMID:23570263|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31278746|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965 3889 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:70502 D RGD:2290534|PMID:18230179 20080318 RGD DNA:missense mutation: :p.R72P 3889 Tp53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11254385|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11756653|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12067251|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14559903|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:1679237|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18762572|PMID:18818522|PMID:18989156|PMID:19101993|PMID:19127115|PMID:19336573|PMID:19367569|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19881536|PMID:19909015|PMID:19930417|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21080251|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21761402|PMID:21934104|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22507745|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24278325|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24665023|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24936644|PMID:25123297|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25293557|PMID:25299233|PMID:2531845|PMID:25326637|PMID:25348012|PMID:25490274|PMID:25490678|PMID:25516983|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27059324|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27210295|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27449771|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27741277|PMID:27866339|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28230820|PMID:28349240|PMID:28369373 3889 Tp53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28453743|PMID:28472496|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29059199|PMID:29070607|PMID:29079597|PMID:29300620|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30607672|PMID:30653764|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32554555|PMID:32566746|PMID:32658383|PMID:33208383|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33818021|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7706467|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7887414|PMID:7966399|PMID:7978053|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9839505|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:11440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25822087 3889 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575 3889 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:35938033|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9047394|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:11057925|PMID:25412846 20160505 RGD 3889 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:11073714|PMID:24836762 20160504 RGD DNA:mutation: : 3889 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:70502 D RGD:11075071|PMID:25573287 20160505 RGD DNA:mutations: : 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:11440 D RGD:14995499|PMID:30099074 20191029 RGD 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:14995486|PMID:28910954 20191028 RGD 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:7240710 20200226 OMIM 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18391940|PMID:18511570|PMID:19012332|PMID:19127115|PMID:19468865|PMID:19556618|PMID:19881536|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667851|PMID:23792586|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25348012|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32566746|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8134126|PMID:8164043|PMID:8401536|PMID:8423216|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer no_association ISO RGD:70502 D RGD:14995500|PMID:29286614 20191029 RGD DNA:missense mutation: :p.P72R (human) 3889 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer treatment IEP D RGD:14995449|PMID:29546074 20191025 RGD 3889 Tp53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:7240710 20130731 OMIM 3889 Tp53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:8547825|PMID:9929165 20140225 RGD 3889 Tp53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631151|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8344492|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 3889 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10064694|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32817165|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34308366|PMID:34805717|PMID:34994652|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:9020384|PMID:9096669|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9635828|PMID:9667734|PMID:9825943 3889 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:11073716|PMID:24611901 20160504 RGD DNA:polymorphism:cds:p.R72P(human) 3889 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:11073728|PMID:22261445 20160504 RGD protein:increased expression:nucleus: 3889 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma treatment ISO RGD:70502 D RGD:11075073|PMID:12745272 20160505 RGD DNA:deletion: : 3889 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia IEP D RGD:8547871|PMID:12167434 20140227 RGD protein:increased expression:tongue: 3889 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia IMP D RGD:8547871|PMID:12167434 20140227 RGD DNA:mutations:cds: 3889 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:70502 D RGD:8547855|PMID:23776093 20140226 RGD protein:increased expression:oral mucosa: 3889 Tp53 tumor protein p53 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70502 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 3895 Tph1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis ISO RGD:735482 D RGD:5686347|PMID:18794762 20120119 RGD DNA:SNP:promoter: (rs10488682) (human) 3895 Tph1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:5686348|PMID:21192222 20120119 RGD DNA:SNPs:multiple 3895 Tph1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:5686349|PMID:21308753 20120119 RGD DNA:SNP:promoter: (rs10488682) (human) 3895 Tph1 tryptophan hydroxylase 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735482 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:735482 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3895 Tph1 tryptophan hydroxylase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735482 D RGD:1580467|PMID:15182943 19990101 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:10930 borderline personality disorder ISO RGD:735482 D RGD:5686357|PMID:16495936 20120119 RGD DNA:SNPs, haplotypes: :multiple 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:1580457|PMID:16389593 19990101 RGD DNA:polymorphisms: :-6526A>G, 218A>C (human) 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:5686345|PMID:20921119 20120119 RGD DNA:missense mutations:exons:multiple 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1574 alcohol use disorder ISO RGD:735482 D RGD:1580464|PMID:15654285 19990101 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder IEP D RGD:9681459|PMID:24495952 20141202 RGD mRNA,protein:decreased expression:hippocampus: 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:1580459|PMID:16165107 19990101 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:5686354|PMID:17134762 20120119 RGD DNA:SNPs, haplotype:intron:218A>C, 779A>C (human) 3895 Tph1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 3895 Tph1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:1580466|PMID:15211625 19990101 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:630 genetic disease ISO RGD:735482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3895 Tph1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:735482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 3895 Tph1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension severity ISO RGD:735483 D RGD:5686352|PMID:17675372 20120119 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:9000784 Fibrosis ISO RGD:735483 D RGD:5686344|PMID:21518801 20120119 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:735482 D RGD:1580461|PMID:15635702 19990101 RGD 3895 Tph1 tryptophan hydroxylase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735482 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 3895 Tph1 tryptophan hydroxylase 1 gene DOID:9478 postpartum depression ISO RGD:735482 D RGD:1580465|PMID:15544576 19990101 RGD 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:7240710 20150225 OMIM 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triosephosphate isomerase deficiency PMID:10209987|PMID:10910933|PMID:11196750|PMID:11698297|PMID:17183658|PMID:17576681|PMID:18562316|PMID:20374271|PMID:24033266|PMID:24056040|PMID:24192681|PMID:24840153|PMID:25741868|PMID:26863999|PMID:27717089|PMID:28492532|PMID:2876430|PMID:32873690|PMID:7485100|PMID:7628118|PMID:8244340|PMID:8503454|PMID:8571957|PMID:8579052|PMID:9338582|PMID:9536098|PMID:9842650 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:737023 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:737023 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0080600 COVID-19 ISO RGD:737023 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737023 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 3896 Tpi1 triosephosphate isomerase 1 gene DOID:0111621 Temtamy syndrome ISO RGD:737023 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 3896 Tpi1 triosephosphate isomerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 3896 Tpi1 triosephosphate isomerase 1 gene DOID:11476 osteoporosis ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 3896 Tpi1 triosephosphate isomerase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 3896 Tpi1 triosephosphate isomerase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 3896 Tpi1 triosephosphate isomerase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737023 D RGD:1599584|PMID:9338582 20070208 RGD triosephosphate isomerase deficiency 3896 Tpi1 triosephosphate isomerase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737023 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 3896 Tpi1 triosephosphate isomerase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737023 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3896 Tpi1 triosephosphate isomerase 1 gene DOID:440 neuromuscular disease ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 3896 Tpi1 triosephosphate isomerase 1 gene DOID:583 hemolytic anemia ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2876430 3896 Tpi1 triosephosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:737023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3896 Tpi1 triosephosphate isomerase 1 gene DOID:655 inherited metabolic disorder ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 3896 Tpi1 triosephosphate isomerase 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 3896 Tpi1 triosephosphate isomerase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5147874|PMID:17465459 20180629 RGD protein:decreased expression:retina 3896 Tpi1 triosephosphate isomerase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737023 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3896 Tpi1 triosephosphate isomerase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 3896 Tpi1 triosephosphate isomerase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737023 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 3896 Tpi1 triosephosphate isomerase 1 gene DOID:9282 ocular hypertension IEP D RGD:2303613|PMID:18626730 20180629 RGD protein:decreased expression:retina 3898 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23204897|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:30165862|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:20215591|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 3898 Tpm1 tropomyosin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737098 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 3898 Tpm1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241277 3898 Tpm1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:1580447|PMID:15000344 19990101 RGD 3898 Tpm1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15519027|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27983818|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:33673806|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:737098 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28359939 3898 Tpm1 tropomyosin 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28790153|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:7240710 20130807 OMIM 3898 Tpm1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12473556|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15479242|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20161772|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23147248|PMID:23396983|PMID:23539503|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28771489|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29398688|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:30022097|PMID:30165862|PMID:31006259|PMID:31270709|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33919104|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:7240710 20130807 OMIM 3898 Tpm1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11273725|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15923195|PMID:16014439|PMID:16043485|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:20031602|PMID:20530761|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21741356|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23077624|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:25241052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26688388|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:28138913|PMID:28359939|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29024827|PMID:29121657|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32600061|PMID:32618513|PMID:32882290|PMID:33297573|PMID:33888711|PMID:34008892|PMID:34036930|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:10763 hypertension ISO RGD:737098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 3898 Tpm1 tropomyosin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11273725|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12169652|PMID:12473556|PMID:12651045|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15249230|PMID:15479242|PMID:15519027|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16199547|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:19659763|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20161772|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21483645|PMID:21551322|PMID:21642532|PMID:21741356|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23077624|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25520664|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26688388|PMID:26873245|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:27983818|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28732641|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28855170|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29192238|PMID:29255176|PMID:29398688|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30847666|PMID:30923642|PMID:31006259|PMID:31090107|PMID:31270709|PMID:31308319|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32183154|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33082984|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33888711|PMID:33919104|PMID:34008892|PMID:34036930|PMID:34540771|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 3898 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29517769|PMID:31333075|PMID:31568572 3898 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29496559|PMID:29517769|PMID:30240712|PMID:30847666|PMID:31270709|PMID:31333075|PMID:31568572 3898 Tpm1 tropomyosin 1 gene DOID:2717 Bloom syndrome ISO RGD:737098 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3898 Tpm1 tropomyosin 1 gene DOID:2843 long QT syndrome ISO RGD:737098 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 3898 Tpm1 tropomyosin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737098 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 3898 Tpm1 tropomyosin 1 gene DOID:630 genetic disease ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3898 Tpm1 tropomyosin 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737098 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:28359939 3898 Tpm1 tropomyosin 1 gene DOID:9000058 Keloid ISO RGD:737098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 3898 Tpm1 tropomyosin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:737098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 3898 Tpm1 tropomyosin 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737098 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 3898 Tpm1 tropomyosin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3898 Tpm1 tropomyosin 1 gene DOID:9003604 Pulmonary Atresia with Intact Ventricular Septum ISO RGD:737098 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum PMID:28359939 3898 Tpm1 tropomyosin 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737098 D RGD:8554872 20160816 ClinVar ClinVar Annotator: match by term: Effort-induced polymorphic ventricular tachycardias 3898 Tpm1 tropomyosin 1 gene DOID:9256 colorectal cancer ISO RGD:737098 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3899 Tpm4 tropomyosin 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 3899 Tpm4 tropomyosin 4 gene DOID:10320 asbestosis ISO RGD:736665 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 3899 Tpm4 tropomyosin 4 gene DOID:11476 osteoporosis ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 3899 Tpm4 tropomyosin 4 gene DOID:2213 hemorrhagic disease ISO RGD:736665 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 3899 Tpm4 tropomyosin 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736665 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3899 Tpm4 tropomyosin 4 gene DOID:630 genetic disease ISO RGD:736665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3899 Tpm4 tropomyosin 4 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 3899 Tpm4 tropomyosin 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 3899 Tpm4 tropomyosin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3899 Tpm4 tropomyosin 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 3899 Tpm4 tropomyosin 4 gene DOID:9004657 Weight Gain ISO RGD:736665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 3900 TPO thyroid peroxidase gene DOID:1459 hypothyroidism ISO RGD:12139633 D RGD:9068941 20230518 OMIA Hypothyroidism, congenital PMID:10088086|PMID:10340243|PMID:10340250|PMID:11316303|PMID:11860240|PMID:12125189|PMID:12219595|PMID:12416867|PMID:12564727|PMID:12741092|PMID:12892299|PMID:14518649|PMID:16300118|PMID:16451201|PMID:17197623|PMID:1748985|PMID:17619002|PMID:17619004|PMID:2061865|PMID:21541884|PMID:2307615|PMID:23113744|PMID:23223904|PMID:23683021|PMID:25290378|PMID:25555336|PMID:25958183|PMID:26261983|PMID:26401337|PMID:26401340|PMID:26478542|PMID:26696394|PMID:27267591|PMID:3223852|PMID:35610669|PMID:37167252|PMID:7695146|PMID:7730121|PMID:7744675|PMID:8091179|PMID:8116929|PMID:8175472|PMID:8496104|PMID:8592797|PMID:8731132|PMID:8799987|PMID:8885174|PMID:8913019|PMID:9282344|PMID:9444634|PMID:9503354|PMID:9590447|PMID:9682425 3900 Tpo thyroid peroxidase gene DOID:0050328 congenital hypothyroidism ISO RGD:735786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12564727|PMID:14751036|PMID:16187919|PMID:17381485 3900 Tpo thyroid peroxidase gene DOID:0050328 congenital hypothyroidism ISO RGD:735786 D RGD:1599648|PMID:7550241 20070209 RGD total iodide organification defect, OMIM:274500 3900 Tpo thyroid peroxidase gene DOID:0050328 congenital hypothyroidism ISO RGD:735786 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:7240710 20130221 OMIM 3900 Tpo thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A PMID:10084596|PMID:10468986|PMID:11061528|PMID:11238503|PMID:11916616|PMID:12213873|PMID:12843174|PMID:12938097|PMID:1401057|PMID:14751036|PMID:15055360|PMID:15279913|PMID:15745925|PMID:17468186|PMID:17547680|PMID:18029453|PMID:23236987|PMID:23512414|PMID:24482635|PMID:24790296|PMID:25241611|PMID:25564141|PMID:25741868|PMID:26565538|PMID:27373559|PMID:27617131|PMID:28492532|PMID:29546359|PMID:30022773|PMID:30240412|PMID:31430255|PMID:32424871|PMID:32425884|PMID:32765423|PMID:34426522|PMID:35002963|PMID:7550241|PMID:8027236|PMID:8964831|PMID:9024270|PMID:9814507 3900 Tpo thyroid peroxidase gene DOID:1059 intellectual disability ISO RGD:735786 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:12176 goiter ISO RGD:735786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12564727|PMID:14751036|PMID:17547680 3900 Tpo thyroid peroxidase gene DOID:12361 Graves' disease ISO RGD:735786 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 3900 Tpo thyroid peroxidase gene DOID:2921 glomerulonephritis ISO RGD:735786 D RGD:7207483|PMID:8393543 20130205 RGD 3900 Tpo thyroid peroxidase gene DOID:417 autoimmune disease ISO RGD:735786 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 3900 Tpo thyroid peroxidase gene DOID:630 genetic disease ISO RGD:735786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:9004283 Transplant Rejection ISO RGD:735786 D RGD:7207487|PMID:19506389 20130205 RGD 3900 Tpo thyroid peroxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735786 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:9007661 Dwarfism ISO RGD:735786 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 3900 Tpo thyroid peroxidase gene DOID:9008086 Developmental Disabilities ISO RGD:735786 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 3903 Trh thyrotropin releasing hormone gene DOID:0111947 immunodeficiency 21 ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 3903 Trh thyrotropin releasing hormone gene DOID:10763 hypertension IDA D RGD:1600406|PMID:17227965 20070307 RGD protein:decreased expression:diencephalon 3903 Trh thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3903 Trh thyrotropin releasing hormone gene DOID:10914 amnestic disorder ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7562510|PMID:7617693|PMID:8405091 3903 Trh thyrotropin releasing hormone gene DOID:11162 respiratory failure ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1305443|PMID:1833029 3903 Trh thyrotropin releasing hormone gene DOID:1459 hypothyroidism IEP D RGD:1600414|PMID:16926379 20070308 RGD protein:increased expression:hypothalamus, neuron 3903 Trh thyrotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8736133 3903 Trh thyrotropin releasing hormone gene DOID:289 endometriosis ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 3903 Trh thyrotropin releasing hormone gene DOID:630 genetic disease ISO RGD:69154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3903 Trh thyrotropin releasing hormone gene DOID:8927 learning disability ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8405091 3903 Trh thyrotropin releasing hormone gene DOID:8986 narcolepsy ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2845442 3903 Trh thyrotropin releasing hormone gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6813757 3903 Trh thyrotropin releasing hormone gene DOID:9000495 Tremor ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:103733|PMID:416961 3903 Trh thyrotropin releasing hormone gene DOID:9000641 Pain ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6409194 3903 Trh thyrotropin releasing hormone gene DOID:9002395 Hypothermia ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3903 Trh thyrotropin releasing hormone gene DOID:9002554 Tachycardia ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3903 Trh thyrotropin releasing hormone gene DOID:9003416 Post-Head Injury Coma ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8690305 3903 Trh thyrotropin releasing hormone gene DOID:9003805 Catalepsy ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2547386 3903 Trh thyrotropin releasing hormone gene DOID:9006315 Stupor ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:416961|PMID:8690305 3903 Trh thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:7240710 20130221 OMIM 3903 Trh thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypothalamic hypothyroidism PMID:25741868 3903 Trh thyrotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6350720|PMID:6813757 3903 Trh thyrotropin releasing hormone gene DOID:9007650 Unconsciousness ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6281507 3903 Trh thyrotropin releasing hormone gene DOID:9008086 Developmental Disabilities ISO RGD:69154 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 3903 Trh thyrotropin releasing hormone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 3903 Trh thyrotropin releasing hormone gene DOID:9119 acute myeloid leukemia ISO RGD:69154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 3903 Trh thyrotropin releasing hormone gene DOID:9270 alkaptonuria ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 3904 Trhr thyrotropin releasing hormone receptor gene DOID:0050328 congenital hypothyroidism ISS RGD:11453 D RGD:13592920 20180518 MouseDO 3904 Trhr thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:7240710 20190911 OMIM 3904 Trhr thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 PMID:19213692|PMID:25741868|PMID:26735259|PMID:28419241|PMID:9141550 3904 Trhr thyrotropin releasing hormone receptor gene DOID:10763 hypertension IDA D RGD:1580745|PMID:7554113 19990101 RGD 3904 Trhr thyrotropin releasing hormone receptor gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:737056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 3904 Trhr thyrotropin releasing hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 3904 Trhr thyrotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3907 Clu clusterin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68978 D RGD:8699507|PMID:12036968 20140813 RGD mRNA:decreased expression:conjunctiva 3907 Clu clusterin gene DOID:0050855 renal fibrosis IMP D RGD:9068421|PMID:22052058 20140818 RGD associated with Ureteral Obstruction 3907 Clu clusterin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 3907 Clu clusterin gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:68978 D RGD:8699502|PMID:10502582 20140813 RGD 3907 Clu clusterin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 3907 Clu clusterin gene DOID:0080000 muscular disease ISO RGD:68978 D RGD:1626306|PMID:15912881 20070731 RGD 3907 Clu clusterin gene DOID:0080162 lupus nephritis ISO RGD:68979 D RGD:8890679|PMID:9546356 20140814 RGD mRNA:increased expression: epithelial cell of renal tubule 3907 Clu clusterin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 3907 Clu clusterin gene DOID:10591 pre-eclampsia ISO RGD:68978 D RGD:1581195|PMID:15925890 19990101 RGD DNA:SNP:exon:866C>T (human) 3907 Clu clusterin gene DOID:10652 Alzheimer's disease ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19734902|PMID:19734903|PMID:21460841 3907 Clu clusterin gene DOID:10652 Alzheimer's disease ISO RGD:68978 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:28492532|PMID:29476165 3907 Clu clusterin gene DOID:10652 Alzheimer's disease ISO RGD:68978 D RGD:8903235|PMID:9560017 20140814 RGD 3907 Clu clusterin gene DOID:10763 hypertension ISO RGD:68978 D RGD:1581195|PMID:15925890 19990101 RGD DNA:SNP:exon:866C>T (human) 3907 Clu clusterin gene DOID:11132 prostatic hypertrophy IEP D RGD:9068410|PMID:19443575 20140818 RGD mRNA, protein:increased expression:prostate gland 3907 Clu clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68978 D RGD:8696020|PMID:18378577 20140808 RGD 3907 Clu clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68979 D RGD:8661808|PMID:22956607 20140814 RGD 3907 Clu clusterin gene DOID:11656 cicatricial pemphigoid ISO RGD:68978 D RGD:8699507|PMID:12036968 20140813 RGD mRNA:decreased expression:conjunctiva 3907 Clu clusterin gene DOID:12306 vitiligo ISO RGD:68979 D RGD:8699503|PMID:7558712 20140813 RGD 3907 Clu clusterin gene DOID:13378 Kawasaki disease treatment ISO RGD:68978 D RGD:8975365|PMID:23956692 20140814 RGD 3907 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:8699505|PMID:18806885 20140813 RGD DNA:SNPs, haplotype: :multiple 3907 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:8699516|PMID:16639006 20140813 RGD 3907 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:8887372|PMID:19182256 20140814 RGD DNA:SNP:intron:rs2279590 (human) 3907 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068391|PMID:25057782 20140814 RGD DNA:SNP:intron:rs2279590 (human) 3907 Clu clusterin gene DOID:13641 exfoliation syndrome no_association ISO RGD:68978 D RGD:8887372|PMID:19182256 20140814 RGD DNA:SNP:intron:rs2279590 (human) 3907 Clu clusterin gene DOID:1612 breast cancer disease_progression ISO RGD:68978 D RGD:8963167|PMID:22037783 20140814 RGD DNA:snp:promoter:g.27611345C>G (rs9331888) (human) 3907 Clu clusterin gene DOID:1749 squamous cell carcinoma severity ISO RGD:68979 D RGD:8936706|PMID:15126350 20140814 RGD 3907 Clu clusterin gene DOID:1909 melanoma ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15955107 3907 Clu clusterin gene DOID:1936 atherosclerosis treatment IDA D RGD:9068390|PMID:15961700 20140814 RGD 3907 Clu clusterin gene DOID:2316 brain ischemia IEP D RGD:727237|PMID:12782389 19990101 RGD 3907 Clu clusterin gene DOID:2351 iron metabolism disease ISO RGD:68979 D RGD:2301196|PMID:18723004 20140818 RGD 3907 Clu clusterin gene DOID:2526 prostate adenocarcinoma treatment IEP D RGD:9068419|PMID:24118288 20140818 RGD 3907 Clu clusterin gene DOID:3008 invasive ductal carcinoma ISO RGD:68978 D RGD:8699513|PMID:10934144 20140813 RGD 3907 Clu clusterin gene DOID:3021 acute kidney failure IEP D RGD:7245501|PMID:22581811 20140818 RGD protein:increased expression:urine 3907 Clu clusterin gene DOID:3021 acute kidney failure ISO RGD:68978 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:20623750|PMID:22005293|PMID:23052191|PMID:24361871|PMID:28885000 3907 Clu clusterin gene DOID:3178 skin papilloma ISO RGD:68979 D RGD:8746700|PMID:11085517 20140814 RGD 3907 Clu clusterin gene DOID:3393 coronary artery disease ISO RGD:68978 D RGD:9068393|PMID:20711835 20140814 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma 3907 Clu clusterin gene DOID:3429 inclusion body myositis ISO RGD:68978 D RGD:1626306|PMID:15912881 20070731 RGD 3907 Clu clusterin gene DOID:418 systemic scleroderma ISO RGD:68978 D RGD:8898558|PMID:22350181 20140814 RGD protein:increased expression:serum 3907 Clu clusterin gene DOID:4251 conjunctival disease ISO RGD:68978 D RGD:9017974|PMID:15584350 20140814 RGD 3907 Clu clusterin gene DOID:4449 macular retinal edema ISO RGD:68978 D RGD:9068396|PMID:23568601 20140814 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor 3907 Clu clusterin gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:9068422|PMID:23791361 20140818 RGD protein:increased expression:urine 3907 Clu clusterin gene DOID:4930 nasal cavity adenocarcinoma ISO RGD:68978 D RGD:9014708|PMID:19903339 20140814 RGD 3907 Clu clusterin gene DOID:557 kidney disease ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21593213|PMID:24863737 3907 Clu clusterin gene DOID:576 proteinuria treatment IEP D RGD:9068435|PMID:18274700 20140818 RGD 3907 Clu clusterin gene DOID:5844 myocardial infarction treatment ISO RGD:68978 D RGD:9068409|PMID:20854280 20140818 RGD 3907 Clu clusterin gene DOID:6432 pulmonary hypertension IEP D RGD:9068424|PMID:25069740 20140818 RGD 3907 Clu clusterin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 3907 Clu clusterin gene DOID:784 chronic kidney disease IEP D RGD:9068427|PMID:24325231 20140818 RGD associated with Obesity;protein:increased expression:urine 3907 Clu clusterin gene DOID:8398 osteoarthritis ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789|PMID:18784066 3907 Clu clusterin gene DOID:8466 retinal degeneration treatment IEP D RGD:9068394|PMID:18085470 20140814 RGD 3907 Clu clusterin gene DOID:8691 mycosis fungoides disease_progression ISO RGD:68978 D RGD:8923490|PMID:23702390 20140814 RGD 3907 Clu clusterin gene DOID:8893 psoriasis ISO RGD:68978 D RGD:9068388|PMID:23522962 20140814 RGD protein:decreased expression:plasma 3907 Clu clusterin gene DOID:8947 diabetic retinopathy treatment ISO RGD:68978 D RGD:9068395|PMID:19875648 20140814 RGD associated with Diabetes Mellitus, Experimental 3907 Clu clusterin gene DOID:9000081 Lymphatic Metastasis ISO RGD:68978 D RGD:8963167|PMID:22037783 20140814 RGD associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human) 3907 Clu clusterin gene DOID:9000965 Neoplasm Metastasis ISO RGD:68978 D RGD:8883512|PMID:20307318 20140814 RGD associated with Breast Neoplasms 3907 Clu clusterin gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:1581194|PMID:15139011 19990101 RGD 3907 Clu clusterin gene DOID:9002055 Chronic Allograft Nephropathy treatment IEP D RGD:9068431|PMID:22494435 20140818 RGD 3907 Clu clusterin gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:9068414|PMID:18949565 20140818 RGD associated with Diabetes Mellitus, Experimental 3907 Clu clusterin gene DOID:9002221 Hyperplasia ISO RGD:68978 D RGD:8699513|PMID:10934144 20140813 RGD associated with Breast Diseases 3907 Clu clusterin gene DOID:9002234 Pituitary Neoplasms treatment ISO RGD:68979 D RGD:8699506|PMID:23051594 20140813 RGD 3907 Clu clusterin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17148459 3907 Clu clusterin gene DOID:9002514 Neointima ISO RGD:68979 D RGD:8699512|PMID:19696405 20140813 RGD 3907 Clu clusterin gene DOID:9002514 Neointima ISO RGD:68979 D RGD:9068412|PMID:20032585 20140818 RGD 3907 Clu clusterin gene DOID:9002775 Cognitive Dysfunction ISO RGD:68978 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 3907 Clu clusterin gene DOID:9003204 Neovascularization, Pathologic ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16308731 3907 Clu clusterin gene DOID:9004462 Atrophy ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21536718 3907 Clu clusterin gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:68978 D RGD:8699504|PMID:23099883 20140813 RGD 3907 Clu clusterin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9068392|PMID:12763621 20140814 RGD protein:increased expression:retina 3907 Clu clusterin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9068411|PMID:23351716 20140818 RGD protein:increased expression:pancreatic islet 3907 Clu clusterin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68978 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 3907 Clu clusterin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 3907 Clu clusterin gene DOID:9008091 Optic Nerve Injuries IEP D RGD:5129542|PMID:14577867 20140814 RGD 3907 Clu clusterin gene DOID:9008939 Breast Neoplasms severity ISO RGD:68978 D RGD:8729187|PMID:17203891 20140814 RGD 3907 Clu clusterin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:68978 D RGD:8764690|PMID:22613415 20140814 RGD 3907 Clu clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 3907 Clu clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:8696021|PMID:10090169 20140808 RGD protein:decreased expression:serum 3908 Tsc2 TSC complex subunit 2 gene DOID:0050562 West syndrome ISO RGD:736193 D RGD:11554173 20180605 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 3908 Tsc2 TSC complex subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:736193 D RGD:11072879|PMID:11603814 20161209 RGD DNA:polymorphism:intron 3908 Tsc2 TSC complex subunit 2 gene DOID:0060041 autism spectrum disorder IMP D RGD:11568683|PMID:20927644 20161212 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736193 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15024740|PMID:17304050|PMID:21572417|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:23514105|PMID:24033266|PMID:24728327|PMID:25231023|PMID:25401301|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29655203|PMID:30763456|PMID:31623367 3908 Tsc2 TSC complex subunit 2 gene DOID:0060041 autism spectrum disorder ISS RGD:11457 D RGD:13592920 20190516 MouseDO 3908 Tsc2 TSC complex subunit 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736193 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 3908 Tsc2 TSC complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28215400|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:0080322 polycystic kidney disease ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:17304050|PMID:22703879|PMID:22903760|PMID:24728327|PMID:25741868|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10205261|PMID:17304050|PMID:21520333|PMID:25741868|PMID:27859028|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10732801 3908 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:7240710 20131030 OMIM 3908 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11129334|PMID:11208653|PMID:11281455|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12869586|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:1520333|PMID:15340059|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16835931|PMID:16877242|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17287951|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18230340|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18466115|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22169896|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22748302|PMID:22791573|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24053982|PMID:24055113|PMID:24075384|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24737435|PMID:24770934|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26822237|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27185581|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27621404|PMID:27757534|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28302202|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28659645|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29925043|PMID:29926239|PMID:29930392|PMID:29932062|PMID:29933521|PMID:3|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30260069|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31140686 3908 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31655562|PMID:31780880|PMID:31799751|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32340510|PMID:32382396|PMID:32410215|PMID:32461669|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32647919|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:32964447|PMID:33074564|PMID:33226606|PMID:33391346|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8799170|PMID:8824881|PMID:8825048|PMID:9045618|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9580671|PMID:9829910|PMID:9881533 3908 Tsc2 TSC complex subunit 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736193 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:10487 Hirschsprung's disease ISO RGD:736193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10205261|PMID:15798777|PMID:17304050|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:736193 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:17304050|PMID:25741868 3908 Tsc2 TSC complex subunit 2 gene DOID:10652 Alzheimer's disease ISO RGD:736193 D RGD:1580518|PMID:16341938 19990101 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15937110 3908 Tsc2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:11568684|PMID:21145542 20161212 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 3908 Tsc2 TSC complex subunit 2 gene DOID:13223 uterine fibroid ISS RGD:11457 D RGD:13592920 20180518 MouseDO OMIM:150699 3908 Tsc2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:11062248|PMID:16114042 20161215 RGD DNA:mutations:exon, intron:multiple 3908 Tsc2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10732801|PMID:18345974|PMID:21062901|PMID:21345208 3908 Tsc2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:11568672|PMID:9007104 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11468687|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:1520333|PMID:15236319|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16877242|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17681840|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18410267|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27621404|PMID:27757534|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28202063|PMID:28211972|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28771801|PMID:28786016|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29740858|PMID:29801666|PMID:29925043|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30548481|PMID:30712878|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31586081|PMID:31591157|PMID:31799751|PMID:31855466|PMID:31856217|PMID:31927531|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32461669|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33074564|PMID:33391346|PMID:33532864|PMID:34070849|PMID:34489640|PMID:34754157|PMID:36232477|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8824881|PMID:8825048|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9829910|PMID:9881533 3908 Tsc2 TSC complex subunit 2 gene DOID:1612 breast cancer disease_progression ISO RGD:736193 D RGD:11568707|PMID:15951164 20161213 RGD mRNA, protein:decreased expression:breast 3908 Tsc2 TSC complex subunit 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 3908 Tsc2 TSC complex subunit 2 gene DOID:1793 pancreatic cancer ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 3908 Tsc2 TSC complex subunit 2 gene DOID:1826 epilepsy ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 3908 Tsc2 TSC complex subunit 2 gene DOID:1826 epilepsy ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17304050|PMID:25741868|PMID:26467025|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736193 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:2394 ovarian cancer ISO RGD:736193 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10732801|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18302728|PMID:21309039|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27930734|PMID:28492532|PMID:29641532|PMID:30548481|PMID:32830346|PMID:32917966|PMID:33575217 3908 Tsc2 TSC complex subunit 2 gene DOID:255 hemangioma ISO RGD:11457 D RGD:11568655|PMID:10096549 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:2871 endometrial carcinoma ISO RGD:736193 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 3908 Tsc2 TSC complex subunit 2 gene DOID:3314 angiomyolipoma ISO RGD:736193 D RGD:8657154|PMID:19265534 20161212 RGD associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney 3908 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma IAGP D RGD:21079730|PMID:29512829 20200219 RGD DNA:mutations:multiple 3908 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma IAGP D RGD:21079732|PMID:22251200 20200219 RGD associated with tuberous sclerosis;DNA:mutations:multiple 3908 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32078667 3908 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:11568662|PMID:20639436 20161209 RGD DNA:loss of heterozygosity 3908 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:1580521|PMID:10823953 19990101 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:7240710 20130221 OMIM 3908 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11290735|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14641237|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18792920|PMID:18854862|PMID:19254590|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20399389|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:21910228|PMID:22343534|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25862857|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27757534|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28968464|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29801666|PMID:30255984|PMID:30712878|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31875159|PMID:32211034|PMID:32313033|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32860008|PMID:34070849|PMID:5279523|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 3908 Tsc2 TSC complex subunit 2 gene DOID:3376 bone osteosarcoma ISO RGD:736193 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:25741868|PMID:26822237 3908 Tsc2 TSC complex subunit 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736193 D RGD:11568674|PMID:16213898 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma IAGP D RGD:68666|PMID:10029074 20161215 RGD DNA:nonsense mutations;missense mutations; splice-site mutation:multiple 3908 Tsc2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:11457 D RGD:11568655|PMID:10096549 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma treatment IMP D RGD:11568661|PMID:18695678 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:630 genetic disease ISO RGD:736193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090883|PMID:10205261|PMID:11112665|PMID:15121797|PMID:15798777|PMID:17304050|PMID:20633017|PMID:21510812|PMID:21520333|PMID:25741868|PMID:25782670|PMID:26467025|PMID:28065512|PMID:28492532|PMID:31785789 3908 Tsc2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:21079731|PMID:24119083 20200219 RGD protein:decreased expression:liver (human) 3908 Tsc2 TSC complex subunit 2 gene DOID:769 neuroblastoma ISO RGD:736193 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 3908 Tsc2 TSC complex subunit 2 gene DOID:8725 vascular dementia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 3908 Tsc2 TSC complex subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736193 D RGD:11568707|PMID:15951164 20161213 RGD associated with Breast Neoplasms 3908 Tsc2 TSC complex subunit 2 gene DOID:9000972 Fever ISO RGD:736193 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Episodic fever PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11170505|PMID:12110509|PMID:21693435 3908 Tsc2 TSC complex subunit 2 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736193 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:25741868|PMID:28492532|PMID:30311386 3908 Tsc2 TSC complex subunit 2 gene DOID:9002955 Nerve Degeneration ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21419848 3908 Tsc2 TSC complex subunit 2 gene DOID:9003122 Rhabdomyoma ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyoma PMID:10205261|PMID:17304050|PMID:25741868|PMID:28492532|PMID:32211034|PMID:32313033 3908 Tsc2 TSC complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736193 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3908 Tsc2 TSC complex subunit 2 gene DOID:9005077 Joint Instability ISO RGD:736193 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532|PMID:30311386 3908 Tsc2 TSC complex subunit 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736193 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 3908 Tsc2 TSC complex subunit 2 gene DOID:9005372 Inflammation ISO RGD:736193 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 3908 Tsc2 TSC complex subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8657153|PMID:18599524 20161212 RGD protein:increased threonine phosphorylation:cortex of kidney 3908 Tsc2 TSC complex subunit 2 gene DOID:9006065 Arthralgia ISO RGD:736193 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Arthralgia PMID:25741868|PMID:28492532|PMID:30311386 3908 Tsc2 TSC complex subunit 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736193 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 3908 Tsc2 TSC complex subunit 2 gene DOID:9006741 Acute Hepatitis IEP D RGD:11568659|PMID:20033472 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:31586081|PMID:31832524|PMID:32193183|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 3908 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:30093976|PMID:30763456|PMID:31018109|PMID:31586081|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:32193183|PMID:32313033|PMID:32502382|PMID:32555378|PMID:32830346|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33686467|PMID:34070849|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 3908 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 3908 Tsc2 TSC complex subunit 2 gene DOID:9007253 Hamartoma ISO RGD:736193 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:25741868 3908 Tsc2 TSC complex subunit 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 3908 Tsc2 TSC complex subunit 2 gene DOID:9007456 Female Infertility ISO RGD:11457 D RGD:11568667|PMID:25189766 20161209 RGD 3908 Tsc2 TSC complex subunit 2 gene DOID:9007502 Brain Neoplasms ISO RGD:736193 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:10205261|PMID:10533067|PMID:10735580|PMID:11208653|PMID:11603814|PMID:12136241|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18854862|PMID:21309039|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28215400 3908 Tsc2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:7240710 20190315 OMIM 3908 Tsc2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:15798777|PMID:21309039|PMID:22703879|PMID:22903760|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28215400|PMID:28492532 3908 Tsc2 TSC complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19250671 3908 Tsc2 TSC complex subunit 2 gene DOID:936 brain disease ISO RGD:736193 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 3909 Tsg101 tumor susceptibility 101 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 3909 Tsg101 tumor susceptibility 101 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349732 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 3909 Tsg101 tumor susceptibility 101 gene DOID:10283 prostate cancer ISO RGD:1349732 D RGD:2291856|PMID:9444960 20080401 RGD mRNA:alternative forms:cds:multiple 3909 Tsg101 tumor susceptibility 101 gene DOID:1059 intellectual disability ISO RGD:1349732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3909 Tsg101 tumor susceptibility 101 gene DOID:1612 breast cancer ISO RGD:1349732 D RGD:2291847|PMID:17369844 20080401 RGD protein:increased expression:breast 3909 Tsg101 tumor susceptibility 101 gene DOID:1612 breast cancer disease_progression ISO RGD:1349732 D RGD:2291848|PMID:10930114 20080401 RGD DNA:deletion: :154_1054del 3909 Tsg101 tumor susceptibility 101 gene DOID:1612 breast cancer severity ISO RGD:1349732 D RGD:2291849|PMID:10618725 20080401 RGD mRNA:alternative forms:breast 3909 Tsg101 tumor susceptibility 101 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1349732 D RGD:2298534|PMID:17606716 20080708 RGD protein:increased expression:ovary 3909 Tsg101 tumor susceptibility 101 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1349732 D RGD:2291854|PMID:10027311 20080401 RGD mRNA:alternative forms 3909 Tsg101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:2291851|PMID:10600297 20080401 RGD mRNA:alternative form:uterine cervix 3909 Tsg101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:2291852|PMID:10505033 20080401 RGD mRNA:alternative forms:uterine cervix:multiple 3909 Tsg101 tumor susceptibility 101 gene DOID:3459 breast carcinoma susceptibility ISO RGD:1349732 D RGD:1600429|PMID:9019400 20070308 RGD DNA:deletions 3909 Tsg101 tumor susceptibility 101 gene DOID:630 genetic disease ISO RGD:1349732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3909 Tsg101 tumor susceptibility 101 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349732 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:9019400 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:0050328 congenital hypothyroidism ISO RGD:732605 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:7240710 20130221 OMIM 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary cretinism PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:0080690 RASopathy ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:12361 Graves' disease ISO RGD:732605 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:1459 hypothyroidism ISO RGD:732605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18031379|PMID:24729111 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:1459 hypothyroidism ISO RGD:732605 D RGD:737692|PMID:1971148 20150205 RGD DNA:nonsense mutation:exon:94G>T (p.E11X) (human) 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:1459 hypothyroidism ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH deficiency PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732605 D RGD:28711759|PMID:20651845 20200604 RGD protein:decreased expression:adenohypophysis (human) 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:3312 bipolar disorder ISO RGD:732605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6455462 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:4195 hyperglycemia ISO RGD:732605 D RGD:1624160|PMID:7956715 20070502 RGD protein:increased expression:serum 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:9000366 Isolated Thyrotropin Deficiency ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyrotropin deficiency, isolated PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:732605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 3910 Tshb thyroid stimulating hormone subunit beta gene DOID:9006462 Coma ISO RGD:732605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24729111 3911 Tshr thyroid stimulating hormone receptor gene DOID:0050328 congenital hypothyroidism IMP D RGD:150521601|PMID:29507327 20211111 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:12629076 3911 Tshr thyroid stimulating hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 3911 Tshr thyroid stimulating hormone receptor gene DOID:0050700 cardiomyopathy ISO RGD:737021 D RGD:1580777|PMID:8796147 19990101 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 3911 Tshr thyroid stimulating hormone receptor gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:737021 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3911 Tshr thyroid stimulating hormone receptor gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7528344|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:737021 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:737021 D RGD:8548658|PMID:18306976 20140318 RGD DNA:missense mutation: :2071A>T (p.I691F) (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT PMID:10037069|PMID:10199795|PMID:10870027|PMID:11442002|PMID:11549687|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16106256|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7124278|PMID:7528344|PMID:7800007|PMID:7920658|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9253356|PMID:9329388|PMID:9360555|PMID:9360556|PMID:9385128|PMID:9398746|PMID:9589634 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:737021 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:12050212|PMID:24033266|PMID:24728327|PMID:25741868|PMID:7528344|PMID:8636266|PMID:8964822|PMID:9329388|PMID:9360555 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31705858 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:8548662|PMID:22673349 20140318 RGD DNA:SNP:intron:rs179247 (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737021 D RGD:8548673|PMID:20237164 20140318 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:11458 D RGD:8548657|PMID:23538203 20140318 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:1955520|PMID:21841780 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:8548654|PMID:21642385 20140318 RGD DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:8548655|PMID:21124799 20140318 RGD DNA:SNPs:intron:rs179247, rs12101255 (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:8548656|PMID:19244275 20140318 RGD DNA:SNPs: :multiple 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:8548661|PMID:11887032 20140318 RGD DNA:polymorphism: :pD727E (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:8548663|PMID:7828357 20140318 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:8548669|PMID:9528975 20140318 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease no_association ISO RGD:737021 D RGD:8548665|PMID:21155717 20140318 RGD DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease treatment ISO RGD:737021 D RGD:8548664|PMID:24518168 20140318 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 3911 Tshr thyroid stimulating hormone receptor gene DOID:1612 breast cancer ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 3911 Tshr thyroid stimulating hormone receptor gene DOID:1826 epilepsy ISO RGD:737021 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 3911 Tshr thyroid stimulating hormone receptor gene DOID:2394 ovarian cancer ISO RGD:737021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25248169|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 3911 Tshr thyroid stimulating hormone receptor gene DOID:305 carcinoma ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 3911 Tshr thyroid stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737021 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3911 Tshr thyroid stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12629076|PMID:14725684|PMID:16060907|PMID:17524032|PMID:17705697|PMID:18727713|PMID:19240155|PMID:19820021|PMID:20718767|PMID:21186955|PMID:22049173|PMID:22112806|PMID:22876533|PMID:25557138|PMID:25741868|PMID:27060741|PMID:27255745|PMID:27637299|PMID:28492532|PMID:28561265|PMID:29092890|PMID:29546359|PMID:30372544|PMID:32425884|PMID:34276565|PMID:8954020|PMID:9100579|PMID:9185526 3911 Tshr thyroid stimulating hormone receptor gene DOID:657 adenoma ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:8413627 3911 Tshr thyroid stimulating hormone receptor gene DOID:7188 autoimmune thyroiditis ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:17952073 3911 Tshr thyroid stimulating hormone receptor gene DOID:7997 thyrotoxicosis ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 3911 Tshr thyroid stimulating hormone receptor gene DOID:7998 hyperthyroidism ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:7800007|PMID:8413627|PMID:8964822 3911 Tshr thyroid stimulating hormone receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 3911 Tshr thyroid stimulating hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 3911 Tshr thyroid stimulating hormone receptor gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21586576|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30372544|PMID:31356790|PMID:7528344|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634 3911 Tshr thyroid stimulating hormone receptor gene DOID:9000591 Congenital Nongoitrous Hypothyroidism treatment IMP D RGD:150521601|PMID:29507327 20211111 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:8413627|PMID:9062474 3911 Tshr thyroid stimulating hormone receptor gene DOID:9005172 Lung Neoplasms ISO RGD:737021 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 3911 Tshr thyroid stimulating hormone receptor gene DOID:9005447 Hyperfunctioning Thyroid Adenoma ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning PMID:7800007|PMID:8413627|PMID:9253356|PMID:9360556|PMID:9398746 3911 Tshr thyroid stimulating hormone receptor gene DOID:9007355 Hashimoto Disease ISO RGD:737021 D RGD:8548662|PMID:22673349 20140318 RGD DNA:SNP:intron:rs3783938 (human) 3911 Tshr thyroid stimulating hormone receptor gene DOID:9007661 Dwarfism IMP D RGD:150521601|PMID:29507327 20211111 RGD 3911 Tshr thyroid stimulating hormone receptor gene DOID:9008086 Developmental Disabilities ISO RGD:737021 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 3911 Tshr thyroid stimulating hormone receptor gene DOID:988 mitral valve prolapse ISO RGD:737021 D RGD:1580775|PMID:10199795 19990101 RGD 3912 Tspy1 testis specific protein, Y-linked 1 gene DOID:10283 prostate cancer ISO RGD:1351486 D RGD:2315446|PMID:16618725 20091222 RGD DNA:deletion (human) 3912 Tspy1 testis specific protein, Y-linked 1 gene DOID:12849 autistic disorder ISO RGD:1351486 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3912 Tspy1 testis specific protein, Y-linked 1 gene DOID:4440 seminoma ISO RGD:1351486 D RGD:2315445|PMID:17521702 20091222 RGD protein:increased expression:testis 3912 Tspy1 testis specific protein, Y-linked 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1351486 D RGD:2315447|PMID:16106251 20091222 RGD mRNA:increased expression:liver 3913 Tst thiosulfate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 3913 Tst thiosulfate sulfurtransferase gene DOID:0060180 colitis ISO RGD:735470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19647029 3913 Tst thiosulfate sulfurtransferase gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:735470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 3913 Tst thiosulfate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735470 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3913 Tst thiosulfate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3913 Tst thiosulfate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 3913 Tst thiosulfate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3913 Tst thiosulfate sulfurtransferase gene DOID:684 hepatocellular carcinoma ISO RGD:735470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 3913 Tst thiosulfate sulfurtransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 3915 Ttpa alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705|PMID:11752462|PMID:12470185|PMID:15300460|PMID:18458655|PMID:19566498 3915 Ttpa alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:7240710 20130221 OMIM 3915 Ttpa alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E PMID:10360777|PMID:10896705|PMID:11013295|PMID:11916749|PMID:12039660|PMID:12112220|PMID:12470185|PMID:12899840|PMID:12907280|PMID:14657365|PMID:15065857|PMID:15300460|PMID:15953402|PMID:16199547|PMID:16819822|PMID:17049453|PMID:17576681|PMID:18414213|PMID:18458085|PMID:19566498|PMID:20301419|PMID:21110980|PMID:21228398|PMID:22479462|PMID:22696689|PMID:23077608|PMID:23445347|PMID:23599266|PMID:23713716|PMID:24033266|PMID:24369383|PMID:25262571|PMID:25614784|PMID:25741868|PMID:26068213|PMID:26467025|PMID:27274910|PMID:27307040|PMID:28492532|PMID:30902645|PMID:31429931|PMID:31970222|PMID:34426522|PMID:34563650|PMID:34759169|PMID:3477125|PMID:3837850|PMID:7566022|PMID:7719340|PMID:8602747|PMID:8965888|PMID:9270601|PMID:9463307|PMID:9536098|PMID:9588854|PMID:9931538 3915 Ttpa alpha tocopherol transfer protein gene DOID:10584 retinitis pigmentosa ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:1936 atherosclerosis ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 3915 Ttpa alpha tocopherol transfer protein gene DOID:5679 retinal disease ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 3915 Ttpa alpha tocopherol transfer protein gene DOID:630 genetic disease ISO RGD:731914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 3915 Ttpa alpha tocopherol transfer protein gene DOID:767 muscular atrophy ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:863 nervous system disease ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 3915 Ttpa alpha tocopherol transfer protein gene DOID:9000343 Vision Disorders ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:9002500 Hearing Disorders ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:9003919 Urination Disorders ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:9004866 Ataxia susceptibility ISO RGD:731914 D RGD:1600430|PMID:7719340 20070308 RGD DNA:frameshift mutations: ; associated with Vitamin E Deficiency 3915 Ttpa alpha tocopherol transfer protein gene DOID:9005219 Abnormal Reflexes ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:9006205 Animal Disease Models ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11752462 3915 Ttpa alpha tocopherol transfer protein gene DOID:9006575 Vitamin E Deficiency ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 3915 Ttpa alpha tocopherol transfer protein gene DOID:9007480 Hyperoxia IEP D RGD:1600432|PMID:12448818 20070308 RGD mRNA:decreased expression:liver 3915 Ttpa alpha tocopherol transfer protein gene DOID:9008625 Somatosensory Disorders ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3915 Ttpa alpha tocopherol transfer protein gene DOID:916 liver benign neoplasm IEP D RGD:1600436|PMID:9178827 20070308 RGD mRNA:decreased expression:liver 3915 Ttpa alpha tocopherol transfer protein gene DOID:92 speech disorder ISO RGD:731914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 3916 Ttr transthyretin gene DOID:0050451 Brugada syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 3916 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:9717013 3916 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:7240710 20130221 OMIM 3916 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11445644|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557757|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1353861|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:1436517|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:1520336|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:16199547|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:1644201|PMID:16448460|PMID:16530227|PMID:1656975|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17028027|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:1734866|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18074076|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:1850191|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19365058|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:23438977|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24368466|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24613567|PMID:24633258 3916 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:24650283|PMID:24664531|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26342004|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28272196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28802308|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29941560|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32393063|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6099706|PMID:6100724|PMID:6168726|PMID:6208668|PMID:6300852|PMID:6310716|PMID:6311926|PMID:6487335|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7417777|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7850982|PMID:7868124|PMID:7906282|PMID:7910950|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095301|PMID:8095302|PMID:8100581|PMID:8102146 3916 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:8133316|PMID:8194279|PMID:8218290|PMID:8257997|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8960746|PMID:8990019|PMID:9017939|PMID:9017946|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15217993|PMID:15249622|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17577687|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25628512|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855 3916 Ttr transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:8064809|PMID:8071954|PMID:8095073|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9818054|PMID:9818883 3916 Ttr transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:151660505|PMID:33739034 20220314 RGD protein:decreased expression:colorectum (human) 3916 Ttr transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:151664608|PMID:21136704 20220308 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737331 D RGD:151664609|PMID:23784731 20220308 RGD protein:increased expression:saliva (human) 3916 Ttr transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:7240710 20130221 OMIM 3916 Ttr transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28188196|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249 3916 Ttr transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 3916 Ttr transthyretin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435 3916 Ttr transthyretin gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:737331 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:28492532 3916 Ttr transthyretin gene DOID:0110269 cataract 3 multiple types ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 3916 Ttr transthyretin gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:10534 stomach cancer severity ISO RGD:737331 D RGD:151664603|PMID:29804846 20220308 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:1059 intellectual disability ISO RGD:737331 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22620962|PMID:22745357|PMID:22877808|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26017327|PMID:26088020|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26521788|PMID:26537620|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:28166811|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:2981253|PMID:3011930|PMID:3022107|PMID:3022108|PMID:3022697|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31728576|PMID:31740141|PMID:31821430|PMID:3229002|PMID:32376792|PMID:32674397|PMID:3457802|PMID:3479441|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724 3916 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:10652 Alzheimer's disease ISO RGD:737331 D RGD:1580525|PMID:16552785 19990101 RGD 3916 Ttr transthyretin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:14640030|PMID:20840742|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7868124 3916 Ttr transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism 3916 Ttr transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28188196|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493 3916 Ttr transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 3916 Ttr transthyretin gene DOID:12450 pancytopenia ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:12583 velocardiofacial syndrome ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:1324 lung cancer disease_progression ISO RGD:737331 D RGD:151664750|PMID:20964562 20220309 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:737331 D RGD:151664742|PMID:17683510 20220309 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:2316 brain ischemia IEP D RGD:1580523|PMID:15469881 19990101 RGD 3916 Ttr transthyretin gene DOID:2355 anemia ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anemia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:3021 acute kidney failure ISO RGD:737331 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3916 Ttr transthyretin gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737331 D RGD:151664739|PMID:31031974 20220309 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:3910 lung adenocarcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD mRNA,protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 3916 Ttr transthyretin gene DOID:4556 lung large cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 3916 Ttr transthyretin gene DOID:4829 adenosquamous lung carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 3916 Ttr transthyretin gene DOID:4947 cholangiocarcinoma ISO RGD:737331 D RGD:151660506|PMID:18275060 20220308 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:4961 bone marrow disease ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:5409 lung small cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 3916 Ttr transthyretin gene DOID:6000 congestive heart failure ISO RGD:737331 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Heart failure PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:28492532|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 3916 Ttr transthyretin gene DOID:630 genetic disease ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23914756 3916 Ttr transthyretin gene DOID:684 hepatocellular carcinoma IEP D RGD:151664602|PMID:28876464 20220721 RGD protein:increased expression:blood serum (rat) 3916 Ttr transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:151664602|PMID:28876464 20220721 RGD protein:increased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:151665161|PMID:16240287 20220314 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737331 D RGD:151356736|PMID:29534342 20220210 RGD protein:decreased expression:blood serum (human) 3916 Ttr transthyretin gene DOID:9000081 Lymphatic Metastasis ISO RGD:737331 D RGD:151665155|PMID:21074777 20220314 RGD associated with colorectal cancer;protein:decreased expresion:blood serum (human) 3916 Ttr transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864 3916 Ttr transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:151660505|PMID:33739034 20220314 RGD associated with colorectal adenocarcinoma;protein:decreased expression:colorectum (human) 3916 Ttr transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:151665158|PMID:20957082 20220314 RGD associated with oral squamous cell carcinoma;protein:decreased expression:blood serum, saliva (human) 3916 Ttr transthyretin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737331 D RGD:151665163|PMID:28730771 20220314 RGD associated with colorectal cancer 3916 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10529370|PMID:12707074|PMID:15469931|PMID:20030258 3916 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:1331525|PMID:15118671 19990101 GAD 3916 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864 3916 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28188196|PMID:28335735|PMID:28393577|PMID:2840822|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33114611|PMID:33283548|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35451899|PMID:35717381|PMID:35903975|PMID:35933469|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 3916 Ttr transthyretin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 3916 Ttr transthyretin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 3916 Ttr transthyretin gene DOID:9003163 Heart Block ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 3916 Ttr transthyretin gene DOID:9004255 Cataract, Sutural, with Punctate and Cerulean Opacities ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17701470|PMID:18326041 3916 Ttr transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:1331525|PMID:15118671 19990101 GAD 3916 Ttr transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:1580526|PMID:15995833 19990101 RGD 3916 Ttr transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary amyloidosis PMID:28492532|PMID:32393063 3916 Ttr transthyretin gene DOID:9005172 Lung Neoplasms ISO RGD:737331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 3916 Ttr transthyretin gene DOID:9005236 Drug Eruptions ISO RGD:737331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 3916 Ttr transthyretin gene DOID:9005698 ZTTK Syndrome ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:9006478 Amyloid Neuropathies ISO RGD:737331 D RGD:1580527|PMID:15793844 19990101 RGD 3916 Ttr transthyretin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737331 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 3916 Ttr transthyretin gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:737331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32674397|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 3916 Ttr transthyretin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 3916 Ttr transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:7240710 20210120 OMIM 3916 Ttr transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33726816|PMID:33739616|PMID:3457802|PMID:34658264|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125 3916 Ttr transthyretin gene DOID:9007824 Carpal Tunnel Syndrome 1 ISO RGD:737331 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095073|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 3916 Ttr transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25595224 3916 Ttr transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:1580528|PMID:15536615 19990101 RGD 3916 Ttr transthyretin gene DOID:9256 colorectal cancer ISO RGD:737331 D RGD:151664608|PMID:21136704 20220308 RGD protein:decreased expression:blood serum (human) 3918 Tub TUB bipartite transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:1343505 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 3918 Tub TUB bipartite transcription factor gene DOID:630 genetic disease ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3918 Tub TUB bipartite transcription factor gene DOID:8501 fundus dystrophy ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 3918 Tub TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:7240710 20150408 OMIM 3918 Tub TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity PMID:16199547|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789 3918 Tub TUB bipartite transcription factor gene DOID:9970 obesity ISS RGD:732108 D RGD:13592920 20180518 MouseDO OMIM:601665 3918 Tub TUB bipartite transcription factor gene DOID:9970 obesity no_association ISO RGD:1343505 D RGD:1625564|PMID:8772727 20070614 RGD 3918 Tub TUB bipartite transcription factor gene DOID:9970 obesity susceptibility ISO RGD:732108 D RGD:1625565|PMID:8612280 20070614 RGD DNA:splice-site mutation 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:737374 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:737374 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:737374 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:7240710 20150701 OMIM 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:16199547|PMID:17576681|PMID:19492091|PMID:21031596|PMID:23897980|PMID:24033266|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9536098|PMID:9683594 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:737374 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737374 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:737374 D RGD:38455996|PMID:28086903 20200807 RGD 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:417 autoimmune disease ISO RGD:737374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9766631 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:630 genetic disease ISO RGD:737374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:820 myocarditis ISO RGD:737374 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737374 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:737374 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 3920 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:737374 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 3921 Tyms thymidylate synthetase gene DOID:0050861 colorectal adenocarcinoma IEP D RGD:2317418|PMID:10226549 20100405 RGD protein:increased activity:colon (rat) 3921 Tyms thymidylate synthetase gene DOID:0050873 follicular lymphoma ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 3921 Tyms thymidylate synthetase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16365025 3921 Tyms thymidylate synthetase gene DOID:0080600 COVID-19 ISO RGD:732334 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3921 Tyms thymidylate synthetase gene DOID:11054 urinary bladder cancer IDA D RGD:2317413|PMID:18463958 20100405 RGD 3921 Tyms thymidylate synthetase gene DOID:12849 autistic disorder ISO RGD:732334 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3921 Tyms thymidylate synthetase gene DOID:1520 colon carcinoma ISO RGD:732334 D RGD:5133430|PMID:17848948 20110617 RGD human tumor in mouse model 3921 Tyms thymidylate synthetase gene DOID:169 neuroendocrine tumor ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 3921 Tyms thymidylate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 3921 Tyms thymidylate synthetase gene DOID:1793 pancreatic cancer ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 3921 Tyms thymidylate synthetase gene DOID:1984 rectal benign neoplasm ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16931962 3921 Tyms thymidylate synthetase gene DOID:2355 anemia ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 3921 Tyms thymidylate synthetase gene DOID:2729 dyskeratosis congenita ISO RGD:732334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 3921 Tyms thymidylate synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:732334 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3921 Tyms thymidylate synthetase gene DOID:630 genetic disease ISO RGD:732334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3921 Tyms thymidylate synthetase gene DOID:674 cleft palate ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 3921 Tyms thymidylate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18019677|PMID:18230555 3921 Tyms thymidylate synthetase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732334 D RGD:14696708|PMID:17659576 20190716 RGD DNA:deletion:3'UTR:1494del6(human) 3921 Tyms thymidylate synthetase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:732334 D RGD:11075093|PMID:22763757 20160506 RGD DNA:polymorphism: : 3921 Tyms thymidylate synthetase gene DOID:863 nervous system disease ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 3921 Tyms thymidylate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:18505590|PMID:18652704|PMID:19020767 3921 Tyms thymidylate synthetase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732334 D RGD:11081002|PMID:25677447 20160523 RGD associated with Gastrointestinal Neoplasms;DNA:SNPs: : 3921 Tyms thymidylate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15999119 3921 Tyms thymidylate synthetase gene DOID:9002720 Splenomegaly IEP D RGD:5133431|PMID:11554613 20110617 RGD mRNA, protein:increased expression, increased activity:spleen (rat) 3921 Tyms thymidylate synthetase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21795601 3921 Tyms thymidylate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15355913|PMID:16284371|PMID:16609021|PMID:18192902|PMID:18652704|PMID:19105824 3921 Tyms thymidylate synthetase gene DOID:9004351 Digestive System Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 3921 Tyms thymidylate synthetase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732334 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3921 Tyms thymidylate synthetase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18192902 3921 Tyms thymidylate synthetase gene DOID:9005172 Lung Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18281538|PMID:19020767 3921 Tyms thymidylate synthetase gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:2315839|PMID:9635926 20100113 RGD 3921 Tyms thymidylate synthetase gene DOID:9005873 Tongue Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 3921 Tyms thymidylate synthetase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 3921 Tyms thymidylate synthetase gene DOID:9006205 Animal Disease Models ISO RGD:732334 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3921 Tyms thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:7240710 20221207 OMIM 3921 Tyms thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 3921 Tyms thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19648163|PMID:21064136|PMID:25007187|PMID:26077125 3921 Tyms thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:152995291|PMID:28347776 20220614 RGD DNA:SNP:cds:rs2853741 (human) 3921 Tyms thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms IEP D RGD:5133433|PMID:10523711 20110617 RGD mRNA, protein:increased expression, increased activity:adenocarcinoma (rat) 3921 Tyms thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:732334 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15386371|PMID:15500737|PMID:16141798|PMID:16943523|PMID:17047489|PMID:17943475|PMID:18607850|PMID:18676755|PMID:19020767|PMID:25944804 3921 Tyms thymidylate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16723031|PMID:19020767|PMID:21501481 3921 Tyms thymidylate synthetase gene DOID:9008972 Hyperammonemia ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 3921 Tyms thymidylate synthetase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732334 D RGD:11075096|PMID:18774170 20160506 RGD DNA:repeats,insertion/deletion:5'UTR, 3'UTR: 3921 Tyms thymidylate synthetase gene DOID:9296 cleft lip ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 3921 Tyms thymidylate synthetase gene DOID:936 brain disease ISO RGD:732334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 3921 Tyms thymidylate synthetase gene DOID:9538 multiple myeloma no_association ISO RGD:732334 D RGD:11075095|PMID:17655928 20160506 RGD DNA:repeats:5'UTR: 3921 Tyms thymidylate synthetase gene DOID:9538 multiple myeloma treatment ISO RGD:732334 D RGD:11075094|PMID:17512053 20160506 RGD DNA:polymorphism: : 3921 Tyms thymidylate synthetase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:732334 D RGD:11080979|PMID:25007187 20160520 RGD DNA:repeats: : rs347430033(human) 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:11467 D RGD:1580531|PMID:15733062 19990101 RGD 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:736404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15733062 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:736404 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736404 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:736404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:736404 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: 46,XX disorder of sex development 3923 Tyro3 TYRO3 protein tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:736404 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:0080325 tuberous sclerosis 2 ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734464 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:11054 urinary bladder cancer ISO RGD:734464 D RGD:2301343|PMID:16407042 20081007 RGD radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001) (human) 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:12930 dilated cardiomyopathy ISO RGD:734464 D RGD:13831294|PMID:23360823 20181220 RGD mRNA:increased expression:left ventricle 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:1826 epilepsy ISO RGD:734464 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734464 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:2394 ovarian cancer ISO RGD:734464 D RGD:2301345|PMID:15735760 20081007 RGD mRNA:increased expression:tumor:relative to normal ovarian epithelium from the same patient (p<0.01) (human) 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:305 carcinoma ISO RGD:734464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3926 Ube2i ubiquitin-conjugating enzyme E2I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:2301345|PMID:15735760 20081007 RGD MCF-7 human breast cancer cell tumors grown in nude mice 3927 Ubtf upstream binding transcription factor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:734082 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 3927 Ubtf upstream binding transcription factor gene DOID:630 genetic disease ISO RGD:734082 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 3927 Ubtf upstream binding transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:737074 D RGD:1580791|PMID:12885411 19990101 RGD 3927 Ubtf upstream binding transcription factor gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:734082 D RGD:7240710 20190315 OMIM 3927 Ubtf upstream binding transcription factor gene DOID:9008006 Childhood-Onset Neurodegeneration with Brain Atrophy ISO RGD:734082 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | ClinVar Annotator: match by term: UBTF-Related Disorder PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79 ISO RGD:733510 D RGD:7240710 20140911 OMIM 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79 ISO RGD:733510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:19864305|PMID:21268678|PMID:22839974|PMID:23359680|PMID:25741868|PMID:28007905|PMID:28492532|PMID:3340629|PMID:35986737|PMID:4514348 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:10652 Alzheimer's disease ISO RGD:733510 D RGD:1580538|PMID:14722078 19990101 RGD 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:14330 Parkinson's disease ISO RGD:733510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868|PMID:28492532 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:1302546|PMID:11555633 20150211 RGD DNA:deletion 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:5679 retinal disease IEP D RGD:5490154|PMID:18836575 20120321 RGD mRNA:decreased expression:retina 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:574 peripheral nervous system disease ISO RGD:733510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16797537 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:630 genetic disease ISO RGD:733510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:684 hepatocellular carcinoma ISO RGD:733510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18666234 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16965602 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15930319 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000123 Deglutition Disorders ISO RGD:736277 D RGD:1302546|PMID:11555633 20150211 RGD DNA:deletion 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:7240710 20230505 OMIM 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:18550537|PMID:19864305|PMID:21268678|PMID:22839974|PMID:25741868|PMID:28007905|PMID:28492532|PMID:4514348|PMID:9774100 3928 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18958481 3929 Ucn urocortin gene DOID:0060180 colitis IEP D RGD:5490987|PMID:21330446 20110922 RGD mRNA:altered expression:distal colon (rat) 3929 Ucn urocortin gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:25741868 3929 Ucn urocortin gene DOID:0080855 Parkinsonism IDA D RGD:5508188|PMID:21362449 20111006 RGD 3929 Ucn urocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 3929 Ucn urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20237592 3929 Ucn urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:1642775|PMID:16915033 20071015 RGD associated with Pregnancy Complications;protein:increased expression:plasma 3929 Ucn urocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349219 D RGD:1580792|PMID:14577573 19990101 RGD 3929 Ucn urocortin gene DOID:12918 thromboangiitis obliterans IDA D RGD:5508315|PMID:19572944 20111013 RGD 3929 Ucn urocortin gene DOID:12918 thromboangiitis obliterans IEP D RGD:5508315|PMID:19572944 20111013 RGD mRNA:increased expression:femoral artery (rat) 3929 Ucn urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:1580792|PMID:14577573 19990101 RGD 3929 Ucn urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:1642796|PMID:11087261 20071016 RGD protein:increased expression:heart left ventricle 3929 Ucn urocortin gene DOID:2030 anxiety disorder ISO RGD:1349219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 3929 Ucn urocortin gene DOID:2841 asthma IEP D RGD:1642781|PMID:16427607 20071015 RGD associated with Hypersensitivity;mRNA, protein:increased expression:lung 3929 Ucn urocortin gene DOID:6000 congestive heart failure ISO RGD:1349219 D RGD:5490589|PMID:19808377 20110920 RGD protein:increased secretion:plasma (human) 3929 Ucn urocortin gene DOID:630 genetic disease ISO RGD:1349219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3929 Ucn urocortin gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1642796|PMID:11087261 20071016 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle 3929 Ucn urocortin gene DOID:9005372 Inflammation ISO RGD:1349219 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10213916 3929 Ucn urocortin gene DOID:9006024 Hypotension ISO RGD:1349219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10213916 3929 Ucn urocortin gene DOID:9007730 Burns IEP D RGD:1642782|PMID:16125201 20071015 RGD 3929 Ucn urocortin gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1642783|PMID:15806110 20071015 RGD 3929 Ucn urocortin gene DOID:9970 obesity treatment ISO RGD:735588 D RGD:1642774|PMID:17932219 20071015 RGD 3930 Uts2 urotensin 2 gene DOID:0050700 cardiomyopathy IEP D RGD:2306796|PMID:18280445 20090506 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium 3930 Uts2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737599 D RGD:1580809|PMID:12791592 19990101 RGD 3930 Uts2 urotensin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 3930 Uts2 urotensin 2 gene DOID:10591 pre-eclampsia ISO RGD:737599 D RGD:1580806|PMID:15866083 19990101 RGD 3930 Uts2 urotensin 2 gene DOID:10763 hypertension IDA D RGD:1580812|PMID:14621188 19990101 RGD 3930 Uts2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 3930 Uts2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:1580808|PMID:15201550 20090506 RGD protein:increased expression:plasma 3930 Uts2 urotensin 2 gene DOID:114 heart disease susceptibility ISO RGD:737599 D RGD:2306803|PMID:16508659 20090506 RGD associated with Kidney Failure, Chronic 3930 Uts2 urotensin 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:737599 D RGD:2306802|PMID:17327028 20090506 RGD DNA:polymorphism 3930 Uts2 urotensin 2 gene DOID:12932 endomyocardial fibrosis IEP D RGD:2306814|PMID:17184580 20090507 RGD 3930 Uts2 urotensin 2 gene DOID:2841 asthma IEP D RGD:2306832|PMID:17045018 20090507 RGD 3930 Uts2 urotensin 2 gene DOID:3407 carotid artery disease ISO RGD:737599 D RGD:2306795|PMID:18338983 20090506 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 3930 Uts2 urotensin 2 gene DOID:480 movement disease ISO RGD:737599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 3930 Uts2 urotensin 2 gene DOID:5844 myocardial infarction IEP D RGD:2306846|PMID:15549273 20090508 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle 3930 Uts2 urotensin 2 gene DOID:6000 congestive heart failure ISO RGD:737599 D RGD:1580809|PMID:12791592 19990101 RGD 3930 Uts2 urotensin 2 gene DOID:6000 congestive heart failure severity ISO RGD:737599 D RGD:2306804|PMID:16364499 20090506 RGD protein:increased expression:plasma 3930 Uts2 urotensin 2 gene DOID:630 genetic disease ISO RGD:737599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3930 Uts2 urotensin 2 gene DOID:6432 pulmonary hypertension IEP D RGD:2306848|PMID:15042392 20090508 RGD 3930 Uts2 urotensin 2 gene DOID:8670 eating disorder ISO RGD:737599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 3930 Uts2 urotensin 2 gene DOID:8947 diabetic retinopathy ISO RGD:737599 D RGD:2306795|PMID:18338983 20090506 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 3930 Uts2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2306786|PMID:18796544 20090506 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney 3930 Uts2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737599 D RGD:2306805|PMID:15492948 20090506 RGD mRNA:increased expression:kidney 3930 Uts2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:737599 D RGD:2306806|PMID:15476950 20090506 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine 3930 Uts2 urotensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737599 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3930 Uts2 urotensin 2 gene DOID:9005289 Water Intoxication ISO RGD:737599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 3930 Uts2 urotensin 2 gene DOID:9007001 Bradycardia ISO RGD:737599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 3930 Uts2 urotensin 2 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2306836|PMID:17900760 20090507 RGD 3930 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:2306799|PMID:18067077 20090506 RGD DNA:polymorphism 3930 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:2306806|PMID:15476950 20090506 RGD protein:increased expression:plasma 3930 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737600 D RGD:2306785|PMID:19323985 20090506 RGD protein:increased expression:skeletal muscle 3930 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737599 D RGD:2306807|PMID:15476949 20090506 RGD DNA:polymorphism: :p.S89N 3931 Ucp1 uncoupling protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:735821 D RGD:10045648|PMID:24498895 20150615 RGD protein:decreased expression:plasma (human) 3931 Ucp1 uncoupling protein 1 gene DOID:10763 hypertension ISO RGD:735821 D RGD:2313626|PMID:17635070 20091006 RGD DNA:polymorphism: :-3826A>G (human) 3931 Ucp1 uncoupling protein 1 gene DOID:11716 prediabetes syndrome IEP D RGD:2313629|PMID:12659879 20091006 RGD mRNA, protein:decreased expression:brown fat 3931 Ucp1 uncoupling protein 1 gene DOID:12858 Huntington's disease ISO RGD:735822 D RGD:10045650|PMID:17055784 20150615 RGD mRNA, protein:decreased expression:brown adipose tissue (mouse) 3931 Ucp1 uncoupling protein 1 gene DOID:12858 Huntington's disease treatment ISO RGD:735822 D RGD:10045649|PMID:20561979 20150615 RGD 3931 Ucp1 uncoupling protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 3931 Ucp1 uncoupling protein 1 gene DOID:6000 congestive heart failure ISO RGD:735821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 3931 Ucp1 uncoupling protein 1 gene DOID:630 genetic disease ISO RGD:735821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3931 Ucp1 uncoupling protein 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735821 D RGD:7247625|PMID:15120704 20130722 RGD DNA:SNP: :-3826A>G (human) 3931 Ucp1 uncoupling protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:735821 D RGD:1624979|PMID:16338218 20070515 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) 3931 Ucp1 uncoupling protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735821 D RGD:2313631|PMID:11317671 20091006 RGD DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human) 3931 Ucp1 uncoupling protein 1 gene DOID:9970 obesity ISO RGD:735821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15592485 3931 Ucp1 uncoupling protein 1 gene DOID:9970 obesity no_association ISO RGD:735821 D RGD:1624977|PMID:8968850 20070515 RGD DNA:polymorphism: :-3826A>G (human) 3932 Ucp2 uncoupling protein 2 gene DOID:0050770 polycystic liver disease ISS RGD:69171 D RGD:13592920 20190418 MouseDO OMIM:174050 3932 Ucp2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:7204434|PMID:18543254 20121218 RGD mRNA, protein:increased expression:liver 3932 Ucp2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69170 D RGD:7204435|PMID:18308829 20121218 RGD mRNA:increased expression:liver 3932 Ucp2 uncoupling protein 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IDA D RGD:7175312|PMID:21359922 20121130 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:0080600 COVID-19 ISO RGD:69170 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 3932 Ucp2 uncoupling protein 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:69170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 3932 Ucp2 uncoupling protein 2 gene DOID:1059 intellectual disability ISO RGD:69170 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3932 Ucp2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 3932 Ucp2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:1580794|PMID:15106800 19990101 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:10763 hypertension treatment IDA D RGD:7175297|PMID:20404217 20121129 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:12858 Huntington's disease ISO RGD:69170 D RGD:10045655|PMID:23029535 20150615 RGD mRNA:decreased expression:peripheral blood (human) 3932 Ucp2 uncoupling protein 2 gene DOID:13603 obstructive jaundice IEP D RGD:7204429|PMID:19632092 20121218 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:1459 hypothyroidism IEP D RGD:7175296|PMID:21190599 20121129 RGD mRNA, protein:decreased expression:kidney 3932 Ucp2 uncoupling protein 2 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7204428|PMID:19772611 20121218 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:2316 brain ischemia ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17052689 3932 Ucp2 uncoupling protein 2 gene DOID:305 carcinoma ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3932 Ucp2 uncoupling protein 2 gene DOID:3407 carotid artery disease ISO RGD:69170 D RGD:1580793|PMID:15604415 19990101 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:6000 congestive heart failure IEP D RGD:7204424|PMID:20809120 20121218 RGD protein:decreased expression:heart, mitochondria 3932 Ucp2 uncoupling protein 2 gene DOID:6000 congestive heart failure IEP D RGD:7204426|PMID:20193183 20121218 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:630 genetic disease ISO RGD:69170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3932 Ucp2 uncoupling protein 2 gene DOID:767 muscular atrophy ISO RGD:69171 D RGD:10045654|PMID:19462004 20150615 RGD mRNA:altered expression:quadriceps muscle (mouse) 3932 Ucp2 uncoupling protein 2 gene DOID:783 end stage renal disease ISO RGD:69170 D RGD:7175299|PMID:18242170 20121129 RGD DNA:deletion 3932 Ucp2 uncoupling protein 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:69170 D RGD:7175298|PMID:19406964 20121129 RGD DNA:polymorphism: :-866G>A (human) 3932 Ucp2 uncoupling protein 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3932 Ucp2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12858170 3932 Ucp2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:7204436|PMID:12858170 20121218 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:7175309|PMID:22195248 20121130 RGD mRNA:increased expression:liver 3932 Ucp2 uncoupling protein 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69171 D RGD:7175295|PMID:22848482 20121129 RGD associated with Diabetes Mellitus, Experimental 3932 Ucp2 uncoupling protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25703824 3932 Ucp2 uncoupling protein 2 gene DOID:9004538 Hearing Loss IEP D RGD:10045653|PMID:22543089 20150615 RGD mRNA, protein:increased expression:cochlea (rat) 3932 Ucp2 uncoupling protein 2 gene DOID:9004590 Acute Liver Failure IEP D RGD:7175313|PMID:21272461 20121130 RGD mRNA:increased expression:liver 3932 Ucp2 uncoupling protein 2 gene DOID:9004786 Carbon Tetrachloride Poisoning IEP D RGD:7204431|PMID:19104935 20121218 RGD protein:increased expression:liver 3932 Ucp2 uncoupling protein 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 3932 Ucp2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313501|PMID:19227473 20090929 RGD protein:increased expression:kidney 3932 Ucp2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825|PMID:16123366 3932 Ucp2 uncoupling protein 2 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:2302404|PMID:17704287 20090930 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69170 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:25741868 3932 Ucp2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12858170 3932 Ucp2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:7204436|PMID:12858170 20121218 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:69170 D RGD:2313512|PMID:17870627 20090929 RGD DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) 3932 Ucp2 uncoupling protein 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2313528|PMID:19526854 20090930 RGD mRNA:increased expression:myocardium 3932 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2313517|PMID:15356383 20090929 RGD associated with Obesity 3932 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7175300|PMID:18344121 20121129 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15562023|PMID:16123366 3932 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:2313630|PMID:11587528 20091006 RGD mRNA:increased expression:brown fat, white fat, skeletal muscle 3932 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:737760|PMID:11440717 20150211 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69170 D RGD:2313525|PMID:10382588 20090929 RGD DNA:polymorphism:exon (human) 3932 Ucp2 uncoupling protein 2 gene DOID:9452 fatty liver disease IEP D RGD:7204423|PMID:21114362 20121218 RGD mRNA:increased expression:liver 3932 Ucp2 uncoupling protein 2 gene DOID:9452 fatty liver disease ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 3932 Ucp2 uncoupling protein 2 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:69170 D RGD:2313516|PMID:16373902 20090929 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-866G>A (rs659366)(human) 3932 Ucp2 uncoupling protein 2 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:69171 D RGD:737759|PMID:11101840 20150211 RGD 3932 Ucp2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11381268 3932 Ucp2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 3932 Ucp2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:2313512|PMID:17870627 20090929 RGD DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) 3932 Ucp2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 4 PMID:11381268|PMID:15562023|PMID:18414213|PMID:25741868|PMID:28492532 3932 Ucp2 uncoupling protein 2 gene DOID:9970 obesity susceptibility ISO RGD:69170 D RGD:7240710 20190502 OMIM 3932 Ucp2 uncoupling protein 2 gene DOID:9970 obesity susceptibility ISO RGD:69170 D RGD:737761|PMID:11381268 20150211 RGD DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human) 3933 Ucp3 uncoupling protein 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 3933 Ucp3 uncoupling protein 3 gene DOID:1059 intellectual disability ISO RGD:733835 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3933 Ucp3 uncoupling protein 3 gene DOID:10763 hypertension IEP D RGD:1580795|PMID:10994754 19990101 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome IEP D RGD:2313629|PMID:12659879 20091006 RGD mRNA, protein:decreased expression:brown fat 3933 Ucp3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:733835 D RGD:2313514|PMID:17587402 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:11981 morbid obesity ISO RGD:733835 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: OBESITY, SEVERE PMID:28492532|PMID:9769326 3933 Ucp3 uncoupling protein 3 gene DOID:1459 hypothyroidism IEP D RGD:2313535|PMID:17012607 20090930 RGD protein:decreased expression:skeletal muscle, mitochondrion 3933 Ucp3 uncoupling protein 3 gene DOID:4247 coronary restenosis susceptibility ISO RGD:733835 D RGD:2313513|PMID:17786284 20090929 RGD DNA:polymorphism:promoter:-55C>T (human) 3933 Ucp3 uncoupling protein 3 gene DOID:6000 congestive heart failure IEP D RGD:7204424|PMID:20809120 20121218 RGD protein:decreased expression:heart, mitochondria 3933 Ucp3 uncoupling protein 3 gene DOID:630 genetic disease ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3933 Ucp3 uncoupling protein 3 gene DOID:767 muscular atrophy ISO RGD:11474 D RGD:10045654|PMID:19462004 20150615 RGD mRNA:altered expression:quadriceps muscle (mouse) 3933 Ucp3 uncoupling protein 3 gene DOID:7998 hyperthyroidism IEP D RGD:2313535|PMID:17012607 20090930 RGD protein:increased expression:skeletal muscle, mitochondrion 3933 Ucp3 uncoupling protein 3 gene DOID:9002188 Hypoinsulinemia ISO RGD:733835 D RGD:737762|PMID:10935638 20150218 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733835 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 3933 Ucp3 uncoupling protein 3 gene DOID:9002916 Hyperphagia ISO RGD:733835 D RGD:737762|PMID:10935638 20150213 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9004538 Hearing Loss IEP D RGD:10045653|PMID:22543089 20150615 RGD mRNA, protein:increased expression:cochlea (rat) 3933 Ucp3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313524|PMID:10868941 20090929 RGD mRNA:increased expression:skeletal muscle 3933 Ucp3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:733835 D RGD:2313520|PMID:12079841 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:2302404|PMID:17704287 20090930 RGD mRNA:decreased expression:heart right ventricle 3933 Ucp3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:2313512|PMID:17870627 20090929 RGD DNA:polymorphism:promoter:-55C>T (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:2313515|PMID:17571165 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9007751 Hypocholesterolemia ISO RGD:733835 D RGD:737762|PMID:10935638 20150218 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2313528|PMID:19526854 20090930 RGD mRNA:increased expression:myocardium 3933 Ucp3 uncoupling protein 3 gene DOID:9351 diabetes mellitus ISO RGD:733835 D RGD:2313514|PMID:17587402 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2313517|PMID:15356383 20090929 RGD associated with Obesity 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11474 D RGD:2313630|PMID:11587528 20091006 RGD mRNA:altered expression:white fat, skeletal muscle 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:1625189|PMID:9769326 20070528 RGD DNA:SNP:exon:p.V102I (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:2313511|PMID:18223008 20090929 RGD associated with Obesity;DNA:SNPs:exon, 3' utr:rs1800006, rs647126 (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:2313521|PMID:11723073 20090929 RGD protein:decreased expression:skeletal muscle 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:28492532|PMID:9769326 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733835 D RGD:2313522|PMID:11484089 20090929 RGD DNA:polymorphism:promoter:-55C>T (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733835 D RGD:2313523|PMID:11126413 20090929 RGD DNA:polymorphism:promoter:-55C>T (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:733835 D RGD:2313516|PMID:16373902 20090929 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-55C>T (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11474 D RGD:2313502|PMID:18678617 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:11474 D RGD:2313518|PMID:14673524 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:1331525|PMID:15118671 19990101 GAD 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:1625189|PMID:9769326 20070528 RGD DNA:SNP:exon:p.V102I (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:2313519|PMID:12145158 20090929 RGD 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:7240710 20130221 OMIM 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, severe, and type II diabetes | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:25741868|PMID:28492532|PMID:9769326 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity no_association ISO RGD:733835 D RGD:2313526|PMID:9700198 20090929 RGD DNA:polymorphism:exon (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9970 obesity susceptibility ISO RGD:733835 D RGD:2313506|PMID:18249216 20090929 RGD DNA:polymorphism:promoter:-55C>T (human) 3933 Ucp3 uncoupling protein 3 gene DOID:9993 hypoglycemia ISO RGD:733835 D RGD:737762|PMID:10935638 20150213 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:1059 intellectual disability ISO RGD:735247 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:10754 otitis media IEP D RGD:5144051|PMID:15799573 20110728 RGD mRNA,protein:increased expression:epithelial cell 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:11049 meconium aspiration syndrome ISO RGD:735247 D RGD:5144123|PMID:21567110 20110801 RGD protein:increased expression:broncho-alveolar lavage fluid, meconium 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735247 D RGD:5144211|PMID:11435254 20110802 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11475 D RGD:5144208|PMID:12847279 20110802 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:735247 D RGD:5144148|PMID:15467329 20110801 RGD protein:increased expression:serum 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:735247 D RGD:5147386|PMID:11981419 20110803 RGD associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2841 asthma IEP D RGD:5144052|PMID:12921604 20110728 RGD mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2841 asthma ISO RGD:735247 D RGD:5144148|PMID:15467329 20110801 RGD protein:decreased expression:serum 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2841 asthma ISO RGD:735247 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:12100044|PMID:9550363|PMID:9643286 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2841 asthma susceptibility ISO RGD:735247 D RGD:5144226|PMID:21255142 20110802 RGD associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2921 glomerulonephritis ISO RGD:735247 D RGD:6903251|PMID:18558621 20120927 RGD recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis ISS RGD:11475 D RGD:13592920 20190627 MouseDO OMIM:161950 | OMIM:616818 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735247 D RGD:6903255|PMID:11967037 20120927 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3021 acute kidney failure IEP D RGD:2313129|PMID:18824919 20120927 RGD associated with LPS induced endotoxemia 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735247 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:5144139|PMID:16369113 20110801 RGD mRNA,protein:decreased expression:lung 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735247 D RGD:5144130|PMID:21239758 20110801 RGD associated with scleroderma, systemic; protein:increased expression:serum: 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:4481 allergic rhinitis ISO RGD:11475 D RGD:5144135|PMID:17882576 20110801 RGD mRNA:decreased expression:nasal mucosa, lung 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:850 lung disease ISO RGD:735247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11475 D RGD:5144210|PMID:11597923 20110802 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:11475 D RGD:5144143|PMID:15608088 20110801 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury IEP D RGD:5143982|PMID:18420837 20110727 RGD protein:decreased expression:lung 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11475 D RGD:5144142|PMID:16226776 20110801 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9004659 Respiration Disorders ISO RGD:735247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18288317 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9005372 Inflammation ISO RGD:735247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9006182 Carotid Artery Injuries IDA D RGD:5144055|PMID:11107082 20110728 RGD 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9007480 Hyperoxia ISO RGD:11475 D RGD:5144215|PMID:9555576 20110802 RGD mRNA:decreased expression:epithelial cell 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735247 D RGD:5144234|PMID:15836756 20110802 RGD mRNA, protein:decreased expression:nasal lavage fluid 3934 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:735247 D RGD:5144148|PMID:15467329 20110801 RGD protein:decreased expression:serum 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:0050685 small cell carcinoma ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20946520 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350018 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:0060476 Perlman syndrome ISO RGD:1350018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1350018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:10211 cholelithiasis susceptibility ISO RGD:1350018 D RGD:10768828|PMID:18081723 20160209 RGD associated with Beta-Thalassemia; DNA:mutation,repeat:cds,promoter; p. G71R,(TA) (human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:10211 cholelithiasis susceptibility ISO RGD:1350018 D RGD:10769341|PMID:17593033 20160210 RGD associated with Alpha-Thalassemia;DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:10211 cholelithiasis susceptibility ISO RGD:1350018 D RGD:6482853|PMID:10498597 20120507 RGD associated with Spherocytosis, Hereditary;DNA:insertion:promoter 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:11151 cholecystolithiasis susceptibility ISO RGD:1350018 D RGD:10768868|PMID:18392554 20160210 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:promoter: 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:1227 neutropenia ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17549067 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:13580 cholestasis treatment ISO RGD:11476 D RGD:14694823|PMID:29867509 20190627 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:1380 endometrial cancer ISO RGD:1350018 D RGD:2315450|PMID:18349273 20091222 RGD DNA:SNP: :rs2070959 (human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:1612 breast cancer ISO RGD:1350018 D RGD:2301047|PMID:16637266 20080924 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1350018 D RGD:14401574|PMID:29239247 20190513 RGD DNA:SNP: : rs8175347(human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2382 kernicterus ISO RGD:1350018 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:20194756|PMID:28167773 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2394 ovarian cancer ISO RGD:1350018 D RGD:2315449|PMID:19299905 20091222 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2394 ovarian cancer ISO RGD:1350018 D RGD:2315451|PMID:15254716 20091222 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2739 Gilbert syndrome ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10421657|PMID:15180166|PMID:15297419 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2739 Gilbert syndrome ISO RGD:1350018 D RGD:7240710 20150819 OMIM 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2739 Gilbert syndrome ISO RGD:1350018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2741 bilirubin metabolic disorder IAGP D RGD:1354702|PMID:15753292 20201210 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20194756|PMID:21983082|PMID:23950218|PMID:25370011|PMID:27060662 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350018 D RGD:6482854|PMID:21993917 20120507 RGD associated with Arthritis, Rheumatoid;DNA:polymorphisms 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2741 bilirubin metabolic disorder severity ISO RGD:1350018 D RGD:6482855|PMID:16609363 20120507 RGD associated with HIV Infection;DNA:mutation: :p.G71R (human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2741 bilirubin metabolic disorder susceptibility ISO RGD:1350018 D RGD:10769337|PMID:10091405 20160210 RGD associated with Beta-Thalassemia;DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:2773 contact dermatitis ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3021 acute kidney failure ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3864191 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:11476|RGD:1350018 D RGD:6482851|PMID:22094718 20120507 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25370011 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1350018 D RGD:13432067|PMID:16337205 20170918 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1350018 D RGD:6482856|PMID:16019265 20120507 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1350018 D RGD:7240710 20150819 OMIM 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1350018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome susceptibility ISO RGD:1350018 D RGD:1600438|PMID:9497253 20070308 RGD DNA:splice-site mutations 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome treatment IMP D RGD:10769363|PMID:22765254 20160211 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3803 Crigler-Najjar syndrome treatment ISO RGD:1350018 D RGD:10769340|PMID:24285217 20160210 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1350018 D RGD:10769339|PMID:16636344 20160210 RGD DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:630 genetic disease ISO RGD:1350018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:74 hematopoietic system disease no_association ISO RGD:1350018 D RGD:10769335|PMID:23827973 20160210 RGD associated with Breast Neoplasms; 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:7998 hyperthyroidism IEP D RGD:1600445|PMID:14620509 20070308 RGD mRNA:increased expression:hepatocyte 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18768784 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:8692 myeloid leukemia treatment ISO RGD:1350018 D RGD:10768829|PMID:23609856 20160209 RGD DNA:polymorphism: : 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:8778 Crohn's disease ISO RGD:1350018 D RGD:6482850|PMID:22398043 20120507 RGD DNA:polymorphism:promoter 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1350018 D RGD:7240710 20150819 OMIM 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1350018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1350018 D RGD:7240710 20150819 OMIM 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1350018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:1350018 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9002532 Neonatal Hyperbilirubinemia susceptibility ISO RGD:1350018 D RGD:10769330|PMID:21592495 20160210 RGD DNA:polymorphism: :211G>A(human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350018 D RGD:10768826|PMID:15007088 20160209 RGD associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350018 D RGD:10768867|PMID:24932285 20160210 RGD associated with Genital Neoplasms, Female;DNA:polymorphisms: : 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350018 D RGD:10769334|PMID:20177420 20160210 RGD associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350018 D RGD:10769336|PMID:23783485 20160210 RGD associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350018 D RGD:10769339|PMID:16636344 20180105 RGD associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:11476 D RGD:14402051|PMID:29574133 20190528 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004898 Jaundice IAGP D RGD:1354701|PMID:20323028 20201210 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9004898 Jaundice treatment ISO RGD:1350018 D RGD:13432069|PMID:19585550 20170918 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9005094 Hereditary Hyperbilirubinemia treatment ISO RGD:1350018 D RGD:1354702|PMID:15753292 20190802 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9005274 Polyuria IAGP D RGD:1354701|PMID:20323028 20201210 RGD 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9005372 Inflammation ISO RGD:11476 D RGD:6482852|PMID:16339353 20120507 RGD mRNA:decreased expression:liver 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9005587 Starvation IEP D RGD:1600450|PMID:9841869 20070308 RGD mRNA, protein:increased expression:liver 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9006113 Gallstones susceptibility ISO RGD:1350018 D RGD:10769331|PMID:15388579 20160210 RGD associated with Anemia, Sickle Cell;DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9006113 Gallstones susceptibility ISO RGD:1350018 D RGD:10769338|PMID:14555305 20160210 RGD associated with Beta-Thalassemia;DNA:repeat:promoter:(TA) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1350018 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19931604 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1350018 D RGD:14694824|PMID:28900877 20190617 RGD DNA:SNP:exon (rs4148323)(human) 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:11476 D RGD:6482852|PMID:16339353 20120507 RGD mRNA:decreased expression:liver 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10769362|PMID:23545594 20160211 RGD mRNA,protein:increased expression,increased activity:intestine, colon: 3935 Ugt1a1 UDP glucuronosyltransferase family 1 member A1 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:1600450|PMID:9841869 20070308 RGD mRNA, protein:increased expression:liver 3936 Ugt2b UDP glycosyltransferase 2 family, polypeptide B gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3938 Ugt8 UDP glycosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1343181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3940 Umod uromodulin gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:20172860|PMID:21868615|PMID:23748428|PMID:25741868|PMID:28492532|PMID:28781372|PMID:29204651|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855 3940 Umod uromodulin gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISS RGD:737075 D RGD:13592920 20180518 MouseDO OMIM:162000 | OMIM:613092 | OMIM:614227 3940 Umod uromodulin gene DOID:10763 hypertension ISO RGD:737075 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 3940 Umod uromodulin gene DOID:10825 essential hypertension ISO RGD:737075 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Essential hypertension 3940 Umod uromodulin gene DOID:557 kidney disease ISO RGD:737075 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8486146|PMID:19430482 3940 Umod uromodulin gene DOID:557 kidney disease ISO RGD:737075 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14531790|PMID:23988501|PMID:25741868|PMID:26467025|PMID:28492532 3940 Umod uromodulin gene DOID:630 genetic disease ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16883323|PMID:25741868|PMID:28492532 3940 Umod uromodulin gene DOID:784 chronic kidney disease ISO RGD:737075 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 3940 Umod uromodulin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2324705|PMID:10925066 20100512 RGD protein:increased expression:urine 3940 Umod uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:7240710 20130221 OMIM 3940 Umod uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:737832|PMID:12471200 20070228 RGD 3940 Umod uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: Uromodulin-associated kidney disease PMID:10330352|PMID:12205338|PMID:12471200|PMID:12519891|PMID:12629136|PMID:12634862|PMID:14531790|PMID:14569098|PMID:14570709|PMID:15253706|PMID:15589826|PMID:16135773|PMID:16883323|PMID:17010121|PMID:17245395|PMID:19465746|PMID:20172860|PMID:20472742|PMID:21060763|PMID:21868615|PMID:22117067|PMID:22693617|PMID:23748428|PMID:23988501|PMID:24670410|PMID:24961278|PMID:25741868|PMID:26467025|PMID:27729211|PMID:27795632|PMID:28166811|PMID:28492532|PMID:28781372|PMID:28990932|PMID:29204651|PMID:29212948|PMID:30099615|PMID:30376835|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855|PMID:32954071|PMID:33532864|PMID:33574344|PMID:34519781|PMID:7396593 3942 Unc119 unc-119 lipid binding chaperone gene DOID:0050572 cone-rod dystrophy ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11006213|PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 3942 Unc119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:7240710 20200826 OMIM 3942 Unc119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 13 PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 3942 Unc119 unc-119 lipid binding chaperone gene DOID:10584 retinitis pigmentosa ISO RGD:1343859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11006213 3942 Unc119 unc-119 lipid binding chaperone gene DOID:3109 idiopathic CD4-positive T-lymphocytopenia ISO RGD:1343859 D RGD:11554173 20200901 CTD CTD Direct Evidence: marker/mechanism 3942 Unc119 unc-119 lipid binding chaperone gene DOID:3109 idiopathic CD4-positive T-lymphocytopenia ISO RGD:1343859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 3942 Unc119 unc-119 lipid binding chaperone gene DOID:4448 macular degeneration ISO RGD:1343859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:26992781|PMID:35947183 3942 Unc119 unc-119 lipid binding chaperone gene DOID:630 genetic disease ISO RGD:1343859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3942 Unc119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:7240710 20230505 OMIM 3942 Unc119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 24 PMID:11006213|PMID:26992781|PMID:28492532|PMID:35947183 3943 Pgc progastricsin gene DOID:0050444 infantile Refsum disease ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 3943 Pgc progastricsin gene DOID:630 genetic disease ISO RGD:735292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3943 Pgc progastricsin gene DOID:905 Zellweger syndrome ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 39457947 SD-Bckdkm1Dbsa strain DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:39131293|PMID:27472223 20201012 RGD compared to NTac:SD 39457947 SD-Bckdkm1Dbsa strain DOID:14228 oligospermia IAGP D RGD:39131293|PMID:27472223 20201012 RGD compared to NTac:SD 39457950 SD-Ngly1em1Ta-/- strain DOID:0060728 NGLY1-deficiency IMP D RGD:39457703|PMID:32259258 20201013 RGD compared to Wild type 3946 Urod uroporphyrinogen decarboxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 3946 Urod uroporphyrinogen decarboxylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 3946 Urod uroporphyrinogen decarboxylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1351123 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 3946 Urod uroporphyrinogen decarboxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 3946 Urod uroporphyrinogen decarboxylase gene DOID:13268 porphyria severity IEP D RGD:21081511|PMID:3596746 20200221 RGD 3946 Urod uroporphyrinogen decarboxylase gene DOID:1612 breast cancer ISO RGD:1351123 D RGD:2301374|PMID:2276414 20081009 RGD protein:increased activity:tumor:in tissue explant cultures of breast cancers and corresponding normal breast tissue (human) 3946 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda IEP D RGD:4144182|PMID:12426626 20101011 RGD protein:decreased activity:liver (rat) 3946 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12030801|PMID:17360334 3946 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:1599713|PMID:2920211 20070213 RGD DNA:missense mutation:cds:p.G281V (human) 3946 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:4145077|PMID:661926 20101022 RGD protein:decreased activity:liver (human) 3946 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:7240710 20130221 OMIM 3946 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial porphyria cutanea tarda | ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:11069625|PMID:11295834|PMID:11719352|PMID:15186324|PMID:16199547|PMID:1634232|PMID:17240319|PMID:17576681|PMID:19233912|PMID:19419417|PMID:19656450|PMID:22382040|PMID:2243121|PMID:23545314|PMID:24777812|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733|PMID:8896428|PMID:9536098|PMID:9792863 3946 Urod uroporphyrinogen decarboxylase gene DOID:5230 hepatoerythropoietic porphyria ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoerythropoietic porphyria PMID:10980536|PMID:1634232|PMID:1905636|PMID:23545314|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733 3946 Urod uroporphyrinogen decarboxylase gene DOID:630 genetic disease ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3946 Urod uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias IEP D RGD:4144806|PMID:6721832 20101014 RGD protein:decreased activity:liver (rat) 3946 Urod uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:735366 D RGD:4145290|PMID:3271868 20101029 RGD protein:decreased activity:liver (mouse) 3946 Urod uroporphyrinogen decarboxylase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1351123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21270338 3946 Urod uroporphyrinogen decarboxylase gene DOID:9009031 Porphyria Cutanea Tarda, Type I ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porphyria cutanea tarda, type I PMID:25741868|PMID:28492532|PMID:8644733 3947 Utrn utrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731342 D RGD:737706|PMID:9288751 20150213 RGD 3947 Utrn utrophin gene DOID:2394 ovarian cancer ISO RGD:731341 D RGD:2300329|PMID:17031801 20080912 RGD 3947 Utrn utrophin gene DOID:630 genetic disease ISO RGD:731341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:7240710 20141216 OMIM 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736120 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736120 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:736120 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:607 paraplegia ISO RGD:736120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:7240710 20190315 OMIM 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 3948 Vamp1 vesicle-associated membrane protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736120 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735448 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735448 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735448 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:7240710 20200318 OMIM 3949 Vamp2 vesicle-associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements PMID:25741868|PMID:30929742 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:0050553 JMP syndrome ISO RGD:735744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:735744 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:30275004 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:735744 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30275004 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:735744 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11114335 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:9003507 Premature Birth ISO RGD:735744 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:30275004 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735744 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:30275004 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:7240710 20190315 OMIM 3950 Vars1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy PMID:11114335|PMID:25741868|PMID:26539891|PMID:29221463|PMID:29691655|PMID:30275004|PMID:30755602|PMID:30755616 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:0050902 medulloblastoma ISO RGD:737234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:737234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:289 endometriosis IEP D RGD:2303708|PMID:17845203 20090317 RGD mRNA:increased expression:endometrium 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737234 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:614 lymphopenia IEP D RGD:2306005|PMID:10433093 20090317 RGD mRNA, protein:increased expression:thymus 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:737234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:2306008|PMID:2064726 20090318 RGD mRNA:decreased expression:liver 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3951 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:2306005|PMID:10433093 20090317 RGD mRNA, protein:increased expression:thymus 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:0060180 colitis IEP D RGD:7207796|PMID:22261574 20130206 RGD protein:increased expression:colon: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:730988 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28851649 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:0080162 lupus nephritis severity ISO RGD:730988 D RGD:7241032|PMID:22788914 20130225 RGD protein:increased expression:urine 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension IEP D RGD:2313107|PMID:19080338 20090909 RGD mRNA:increased expression:multiple organs 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:19018797 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:7241235|PMID:20569722 20130306 RGD associated with Diabetes Mellitus, Type1; protein:increased expression:serum: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension disease_progression IAGP D RGD:1643008|PMID:17938382 20191210 RGD associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat) 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:10923 sickle cell anemia ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16916123 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:2313110|PMID:18159007 20090909 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans IEP D RGD:7207785|PMID:23069071 20130206 RGD protein:increased expression:femoral artery: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:730988 D RGD:1580352|PMID:12086338 19990101 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:13001 carotid stenosis IMP D RGD:7240515|PMID:19958991 20130213 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:13949 interstitial cystitis ISO RGD:730988 D RGD:7241234|PMID:22441309 20130306 RGD protein:increased expression:bladder, urine 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:730988 D RGD:2325162|PMID:17652277 20100521 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11481 D RGD:242905195|PMID:35854140 20230328 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:2224 essential thrombocythemia ISO RGD:730988 D RGD:11354980|PMID:24434346 20160802 RGD protein:increased expression:serum: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:730988 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:2355 anemia ISO RGD:730988 D RGD:7241202|PMID:18974656 20130305 RGD associated with Renal Insufficiency,Chronic;protein:increased expression:serum: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:2723 dermatitis ISO RGD:730988 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:2921 glomerulonephritis ISO RGD:730988 D RGD:7241215|PMID:18574676 20130305 RGD protein:increased expression:kidney 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:3407 carotid artery disease ISO RGD:730988 D RGD:2312760|PMID:19717975 20090902 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:4676 uremia ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11481 D RGD:7241232|PMID:23460853 20130306 RGD protein:increased expression:urine, serum: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:730988 D RGD:2325163|PMID:12923961 20100521 RGD protein:increased expression:serum 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:520 aortic disease IEP D RGD:2313112|PMID:17873024 20090909 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:730988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension IEP D RGD:2298843|PMID:17934115 20090909 RGD protein:increased expression:blood vessel endothelium 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:730988 D RGD:11354985|PMID:11361181 20160802 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:cds: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease IEP D RGD:4145364|PMID:20820841 20130206 RGD protein:increased expression:kidney 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:730988 D RGD:7241036|PMID:21111939 20130225 RGD protein:increased expression:serum: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:824 periodontitis IEP D RGD:7240508|PMID:20065945 20130213 RGD associated with obesity;protein:increased expression:aorta: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:730988 D RGD:13702907|PMID:22987107 20180724 RGD protein:increased expression:serum 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:730988 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:730988 D RGD:2312762|PMID:19237221 20090902 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730988 D RGD:7241238|PMID:20129688 20130306 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730988 D RGD:2325163|PMID:12923961 20100521 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9001542 Albuminuria ISO RGD:730988 D RGD:2312766|PMID:18299691 20090902 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7240523|PMID:23303408 20130213 RGD protein:increased expression:kidney 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730988 D RGD:7241237|PMID:20138682 20130306 RGD associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:1580348|PMID:12196270 19990101 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis IEP D RGD:7207783|PMID:23199547 20130206 RGD protein:increased expression:thrombus, vein 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2313108|PMID:18813897 20090909 RGD mRNA:increased expression:kidney 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730988 D RGD:1580350|PMID:12172318 19990101 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312764|PMID:18983856 20090902 RGD mRNA, protein:increased expression:kidney 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11481 D RGD:2306988|PMID:18093596 20090902 RGD mRNA:increased expression:aorta 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9005930 Endotoxemia IEP D RGD:7240511|PMID:20061033 20130213 RGD mRNA:increased expression:brain: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7240507|PMID:20164827 20130213 RGD protein:increased expression:kidney 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006359 Vitamin D Deficiency ISO RGD:730988 D RGD:7241033|PMID:22677566 20130225 RGD associated with obesity;protein:increased expression:serum: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome IEP D RGD:2313109|PMID:18718174 20090909 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:730988 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007096 Stroke susceptibility ISO RGD:730988 D RGD:737738|PMID:12393616 20150213 RGD associated with sickle cell anemia;DNA:missense mutation:exon 6:1238G>C (human) 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007278 Anaphylaxis IMP D RGD:7207802|PMID:21604443 20130206 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:730988 D RGD:1580351|PMID:11882338 19990101 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7207792|PMID:23052973 20130206 RGD protein:increased expression:heart 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9008550 Vitamin A Deficiency IEP D RGD:7207803|PMID:21512820 20130206 RGD protein:increased expression:aorta 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730988 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12759764 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:730988 D RGD:13703027|PMID:9205546 20180725 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:730988 D RGD:7241211|PMID:18693542 20130305 RGD 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9269 maple syrup urine disease ISO RGD:730988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730988 D RGD:2312765|PMID:18619052 20090902 RGD protein:increased expression:serum 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9477 pulmonary embolism IEP D RGD:7240517|PMID:19915157 20130213 RGD protein:increased expression:lung 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9743 diabetic neuropathy ISO RGD:730988 D RGD:2312761|PMID:19414982 20090902 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730988 D RGD:7241034|PMID:22210567 20130225 RGD associated with Kidney Failure, Chronic;protein:increased expression:artery: 3952 Vcam1 vascular cell adhesion molecule 1 gene DOID:9970 obesity ISO RGD:11481 D RGD:2312763|PMID:19260948 20090902 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 3953 Smr3b submaxillary gland androgen regulated protein 3B gene DOID:630 genetic disease ISO RGD:1345383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3953 Smr3b submaxillary gland androgen regulated protein 3B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 3959 Vdr vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:11053054|PMID:26073892 20170913 RGD DNA:polymorphism: :rs731236,rs1544410(human) 3959 Vdr vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:13210779|PMID:27155524 20170908 RGD DNA:polymorphisms, haplotypes: :rs731236,,rs1544410,rs2228570(human) 3959 Vdr vitamin D receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:619561 D RGD:14401745|PMID:28146070 20190521 RGD mRNA:decreased expression:liver 3959 Vdr vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:11484 D RGD:14401753|PMID:27245430 20190521 RGD mRNA,protein:increased expression:hepatocyte: 3959 Vdr vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:619561 D RGD:14401753|PMID:27245430 20190521 RGD mRNA,protein:increased expression:hepatocyte: 3959 Vdr vitamin D receptor gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:11484 D RGD:14401753|PMID:27245430 20190521 RGD 3959 Vdr vitamin D receptor gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:17970811|PMID:25741868 3959 Vdr vitamin D receptor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:619561 D RGD:13217417|PMID:24880677 20170912 RGD associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) 3959 Vdr vitamin D receptor gene DOID:0080883 vitamin D-dependent rickets ISO RGD:619561 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets PMID:25741868|PMID:28492532 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:11484 D RGD:8158074|PMID:9275211 20140206 RGD 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:13210778|PMID:24246681 20170908 RGD DNA:missense mutations,nonsense mutation:exon,splice junction: 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:13210780|PMID:25201466 20170908 RGD DNA:missense mutation:cds:P.K45E(human) 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:13210792|PMID:24859502 20170911 RGD DNA:missense mutations:cds: 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:7240710 20130221 OMIM 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210401 RGD 3959 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:11484|RGD:619561 D RGD:13432060|PMID:24693968 20170915 RGD 3959 Vdr vitamin D receptor gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:619561 D RGD:13210781|PMID:27558075 20170908 RGD protein:increased expression:muscle: 3959 Vdr vitamin D receptor gene DOID:1025 tuberculoid leprosy ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:10283 prostate cancer susceptibility ISO RGD:619561 D RGD:4889833|PMID:19255064 19990101 RGD DNA:SNP: :rs11574143 (human) 3959 Vdr vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:17451081|PMID:22466564 3959 Vdr vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:1624354|PMID:2849209 20070510 RGD VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) 3959 Vdr vitamin D receptor gene DOID:10763 hypertension ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11335187 3959 Vdr vitamin D receptor gene DOID:10887 lepromatous leprosy ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:11202 primary hyperparathyroidism susceptibility ISO RGD:619561 D RGD:13432057|PMID:9070272 20170915 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) 3959 Vdr vitamin D receptor gene DOID:11476 osteoporosis ISS RGD:11484 D RGD:13592920 20200402 MouseDO OMIM:166710 3959 Vdr vitamin D receptor gene DOID:11476 osteoporosis no_association ISO RGD:619651 D RGD:4889871|PMID:16713399 20101209 RGD associated with Cystic Fibrosis 3959 Vdr vitamin D receptor gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:619561 D RGD:13210783|PMID:24078159 20170908 RGD DNA:polymorphism,haplotype: :rs731236(human) 3959 Vdr vitamin D receptor gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:619561 D RGD:13432055|PMID:24796371 20170915 RGD associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) 3959 Vdr vitamin D receptor gene DOID:11830 myopia susceptibility ISO RGD:619561 D RGD:8157620|PMID:21897619 20140204 RGD DNA:SNP:exon:c.2T>C (human) 3959 Vdr vitamin D receptor gene DOID:12185 otosclerosis ISO RGD:619561 D RGD:8157627|PMID:23639864 20140204 RGD DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human) 3959 Vdr vitamin D receptor gene DOID:12185 otosclerosis no_association ISO RGD:619561 D RGD:8157627|PMID:23639864 20140204 RGD DNA:missense mutation:cds: (rs2228570) (human) 3959 Vdr vitamin D receptor gene DOID:12236 primary biliary cholangitis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:14401750|PMID:19376604 20190521 RGD DNA:SNP: : 3959 Vdr vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:14402024|PMID:15683428 20190522 RGD DNA:polymorphism: : 3959 Vdr vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:8158061|PMID:22738935 20140206 RGD DNA:SNPs, haplotype: :multiple 3959 Vdr vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:8158066|PMID:22762534 20140206 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:12306 vitiligo no_association ISO RGD:619561 D RGD:8158066|PMID:22762534 20140206 RGD DNA:SNP:exon:rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:8157624|PMID:16100768 20140204 RGD DNA:polymorphisms, haplotype 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:8157628|PMID:11134121 20140204 RGD DNA:SNPs: :rs1544410, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:8157632|PMID:17506475 20140204 RGD DNA:SNP:exon:rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:8158053|PMID:16279845 20140206 RGD DNA:SNPs: :rs1544410, rs10735810 (human) 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:8157628|PMID:11134121 20140204 RGD DNA:SNP: :rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:8158053|PMID:16279845 20140206 RGD DNA:SNPs: :rs731236, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:12466 secondary hyperparathyroidism treatment IEP D RGD:8158085|PMID:8807569 20140207 RGD associated with Kidney Failure, Chronic 3959 Vdr vitamin D receptor gene DOID:13241 Behcet's disease ISO RGD:619561 D RGD:8158077|PMID:21820934 20140206 RGD DNA:SNP:exon:rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:13241 Behcet's disease no_association ISO RGD:619561 D RGD:8158077|PMID:21820934 20140206 RGD DNA:SNP: :rs1544410 (human) 3959 Vdr vitamin D receptor gene DOID:13774 Addison's disease ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:13976 peptic esophagitis susceptibility ISO RGD:619561 D RGD:11055189|PMID:25910066 20170906 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) 3959 Vdr vitamin D receptor gene DOID:14330 Parkinson's disease onset ISO RGD:619561 D RGD:13217419|PMID:21309754 20170912 RGD DNA:polymorphisms: :rs4334089, rs2853559(human) 3959 Vdr vitamin D receptor gene DOID:14499 Fabry disease susceptibility ISO RGD:619561 D RGD:13432071|PMID:18278558 20170918 RGD DNA:SNPs,haplotype: : 3959 Vdr vitamin D receptor gene DOID:14566 disease of cellular proliferation ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10389917 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:8157626|PMID:23554871 20140204 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:8157631|PMID:18419802 20140204 RGD DNA:polymorphisms, haplotype: :multiple 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:8157634|PMID:20431345 20140204 RGD DNA:hypermethylation:promoter 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:8158054|PMID:11461072 20140206 RGD DNA:repeat 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:8158058|PMID:15328186 20140206 RGD DNA:SNP, repeat: :rs1544410 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:8158065|PMID:19331145 20140206 RGD mRNA:increased expression:breast 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:8157626|PMID:23554871 20140204 RGD DNA:SNP: :rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:8158060|PMID:19124512 20140206 RGD DNA:SNPs: :rs1544410 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:8157636|PMID:14749534 20140204 RGD DNA:SNPs: :rs731236, rs1544410 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:8158054|PMID:11461072 20140206 RGD DNA:SNP: :rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:8158069|PMID:23300018 20140206 RGD DNA:SNPs: :rs1989969, rs2228570, rs11568820 (human) 3959 Vdr vitamin D receptor gene DOID:1612 breast cancer onset ISO RGD:619561 D RGD:8158055|PMID:19588543 20140206 RGD DNA:repeat, SNP, haplotype:rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:1614 male breast cancer no_association ISO RGD:619561 D RGD:8157630|PMID:22331715 20140204 RGD DNA:SNPs: :rs731236, rs7975232), rs10735810 (human) 3959 Vdr vitamin D receptor gene DOID:1712 aortic valve stenosis ISO RGD:619561 D RGD:1580365|PMID:11359741 19990101 RGD 3959 Vdr vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:8158063|PMID:22213323 20140206 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:8158080|PMID:16950800 20140207 RGD DNA:SNP: :rs1544410 (human) 3959 Vdr vitamin D receptor gene DOID:1909 melanoma disease_progression ISO RGD:619561 D RGD:8158068|PMID:10690530 20140206 RGD DNA:SNPs:exons: (rs731236, rs2228570) (human) 3959 Vdr vitamin D receptor gene DOID:1909 melanoma severity ISO RGD:619561 D RGD:8158067|PMID:19105801 20140206 RGD DNA:SNP:promoter:rs4516035 (human) 3959 Vdr vitamin D receptor gene DOID:1936 atherosclerosis ISO RGD:11484 D RGD:14402022|PMID:25801026 20190522 RGD 3959 Vdr vitamin D receptor gene DOID:2043 hepatitis B disease_progression ISO RGD:619561 D RGD:14402030|PMID:19693091 20190523 RGD DNA:polymorphisms: : 3959 Vdr vitamin D receptor gene DOID:2043 hepatitis B susceptibility ISO RGD:619561 D RGD:14401748|PMID:16733893 20190521 RGD DNA:polymorphisms, hapoltype: : 3959 Vdr vitamin D receptor gene DOID:2048 autoimmune hepatitis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:619561 D RGD:14402024|PMID:15683428 20190522 RGD DNA:polymorphism: : 3959 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:11353119|PMID:26540116 20170911 RGD DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) 3959 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 3959 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:619561 D RGD:11530654|PMID:27049563 20170911 RGD 3959 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:13210790|PMID:25685788 20170911 RGD DNA:polymorphisms: :rs731236,rs7975232(human) 3959 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:5147559|PMID:21664963 20110811 RGD DNA:silent mutation, haplotype:cds: (rs731236) (human) 3959 Vdr vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:8158063|PMID:22213323 20140206 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:8158076|PMID:15077124 20140206 RGD mRNA:increased expression:skin 3959 Vdr vitamin D receptor gene DOID:2671 transitional cell carcinoma ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16080513 3959 Vdr vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:4889854|PMID:15282200 20101209 RGD DNA:SNPs: :multiple (human) 3959 Vdr vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:4889866|PMID:21103062 20101209 RGD DNA:SNP (human) 3959 Vdr vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:4889868|PMID:19622139 20101209 RGD DNA:SNP: :rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:2841 asthma no_association ISO RGD:619561 D RGD:4889867|PMID:20124605 20101209 RGD DNA:SNPs (human) 3959 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:4889845|PMID:18231846 20101209 RGD DNA:SNPs:promoter, 3' UTR (human) 3959 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:4889853|PMID:15295697 20101209 RGD DNA:SNPs (human) 3959 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:4889830|PMID:20231985 19990101 RGD DNA:SNP (human) 3959 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:4889842|PMID:18397302 20101209 RGD DNA:SNPs:5' UTR (human) 3959 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:4889849|PMID:17236578 20101209 RGD DNA:SNP (human) 3959 Vdr vitamin D receptor gene DOID:3310 atopic dermatitis no_association ISO RGD:619561 D RGD:8157625|PMID:23034014 20140204 RGD DNA:SNP: :rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:3310 atopic dermatitis severity ISO RGD:619561 D RGD:8157625|PMID:23034014 20140204 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:619561 D RGD:11560790|PMID:26190642 20190521 RGD DNA:SNP:intron:rs7975232(human) 3959 Vdr vitamin D receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18534255 3959 Vdr vitamin D receptor gene DOID:3393 coronary artery disease severity ISO RGD:619561 D RGD:4889864|PMID:9761785 20101209 RGD DNA:SNP (human) 3959 Vdr vitamin D receptor gene DOID:3491 Turner syndrome susceptibility ISO RGD:619561 D RGD:13432073|PMID:21823528 20170918 RGD DNA:SNP: :rs7975232(human) 3959 Vdr vitamin D receptor gene DOID:399 tuberculosis susceptibility ISO RGD:619561 D RGD:4889839|PMID:18712587 20101209 RGD associated with HIV Infections;DNA:SNPs:3' UTR (human) 3959 Vdr vitamin D receptor gene DOID:4450 renal cell carcinoma ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:4676 uremia ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 3959 Vdr vitamin D receptor gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:619561 D RGD:13432070|PMID:24951052 20170918 RGD DNA:amplication: : 3959 Vdr vitamin D receptor gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:619561 D RGD:11055189|PMID:25910066 20170906 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) 3959 Vdr vitamin D receptor gene DOID:5082 liver cirrhosis ISO RGD:11484 D RGD:14402027|PMID:23622244 20190522 RGD 3959 Vdr vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:14401752|PMID:30683615 20190521 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs1544410(human) 3959 Vdr vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:14402031|PMID:30218108 20190523 RGD 3959 Vdr vitamin D receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619561 D RGD:4889839|PMID:18712587 20101209 RGD DNA:SNPs:3' UTR (human) 3959 Vdr vitamin D receptor gene DOID:552 pneumonia ISO RGD:11484 D RGD:4889851|PMID:17224129 19990101 RGD 3959 Vdr vitamin D receptor gene DOID:552 pneumonia susceptibility ISO RGD:619561 D RGD:11074745|PMID:25367052 20190521 RGD DNA:SNP: :rs2239185(human) 3959 Vdr vitamin D receptor gene DOID:630 genetic disease ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17451081 3959 Vdr vitamin D receptor gene DOID:630 genetic disease ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3959 Vdr vitamin D receptor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619561 D RGD:14401747|PMID:29432829 20190521 RGD DNA:hypermethylation:promoter 3959 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619561 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266|PMID:25741868|PMID:28492532 3959 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:14402025|PMID:25541958 20190522 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human) 3959 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:14402026|PMID:20572305 20190522 RGD associated with alcoholic liver cirrhosis;DNA:haplotype:: 3959 Vdr vitamin D receptor gene DOID:7148 rheumatoid arthritis ISO RGD:619561 D RGD:8158077|PMID:21820934 20140206 RGD DNA:SNP:exon:rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:619561 D RGD:8158077|PMID:21820934 20140206 RGD DNA:SNP: :rs1544410 (human) 3959 Vdr vitamin D receptor gene DOID:824 periodontitis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:8778 Crohn's disease ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis ISO RGD:619561 D RGD:8157633|PMID:17763859 20140204 RGD DNA:silent mutation:cds: (rs731236) (human) 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:8157635|PMID:24320988 20140204 RGD DNA:SNPs:exon:multiple 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:8158062|PMID:21951018 20140206 RGD DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human) 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:8157635|PMID:24320988 20140204 RGD DNA:SNP:promoter:-1012A>G (rs4516035) (human) 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:8158056|PMID:24055231 20140206 RGD DNA:SNPs, haplotype:intron, cds, enhancer:multiple 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:8158072|PMID:15864137 20140206 RGD DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human) 3959 Vdr vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:8158081|PMID:20716226 20140207 RGD DNA:silent mutation:cds:pI352 (rs731236) (human) 3959 Vdr vitamin D receptor gene DOID:8923 skin melanoma no_association ISO RGD:619561 D RGD:8158071|PMID:19615888 20140206 RGD DNA:SNPs: :multiple 3959 Vdr vitamin D receptor gene DOID:8923 skin melanoma no_association ISO RGD:619561 D RGD:8158075|PMID:22576141 20140206 RGD DNA:SNPs: :multiple 3959 Vdr vitamin D receptor gene DOID:8923 skin melanoma susceptibility ISO RGD:619561 D RGD:8157629|PMID:16990805 20140204 RGD DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human) 3959 Vdr vitamin D receptor gene DOID:8947 diabetic retinopathy ISO RGD:619561 D RGD:1580363|PMID:15899948 19990101 RGD 3959 Vdr vitamin D receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome susceptibility ISO RGD:619561 D RGD:11074745|PMID:25367052 20190521 RGD associated with pneumonia; DNA:SNP: :rs2239185(human) 3959 Vdr vitamin D receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:619561 D RGD:8158057|PMID:9613456 20140206 RGD associated with breast cancer;DNA:SNP:intron: (rs1544410) (human) 3959 Vdr vitamin D receptor gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:619561 D RGD:14402032|PMID:14572874 20190523 RGD DNA:SNP:exon:rs731236(human) 3959 Vdr vitamin D receptor gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 3959 Vdr vitamin D receptor gene DOID:9001738 Hypercalciuria IEP D RGD:4889914|PMID:19929616 20101210 RGD protein:increased expression:kidney, small intestine 3959 Vdr vitamin D receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12446453 3959 Vdr vitamin D receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:619561 D RGD:11058690|PMID:25716068 20170918 RGD mRNA,protein:decreased expression:placenta: 3959 Vdr vitamin D receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20347977 3959 Vdr vitamin D receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:619561 D RGD:10045836|PMID:12915669 20150617 RGD DNA:mutations, haplotype:intron, exon: (human) 3959 Vdr vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11484 D RGD:13210791|PMID:21287548 20170911 RGD 3959 Vdr vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:11484 D RGD:8158064|PMID:21318047 20140206 RGD 3959 Vdr vitamin D receptor gene DOID:9003311 Urinary Calculi ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:9003386 Sunburn susceptibility ISO RGD:619561 D RGD:8158067|PMID:19105801 20140206 RGD DNA:SNP: :rs2228570 (human) 3959 Vdr vitamin D receptor gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:619561 D RGD:14401749|PMID:26725771 20190521 RGD DNA:polymorphism: : 3959 Vdr vitamin D receptor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:619561 D RGD:14401746|PMID:27263300 20190521 RGD DNA:polymorphism: : 3959 Vdr vitamin D receptor gene DOID:9004331 Parathyroid Neoplasms susceptibility ISO RGD:619561 D RGD:13432057|PMID:9070272 20170915 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) 3959 Vdr vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:11484 D RGD:14402029|PMID:30905785 20190523 RGD 3959 Vdr vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:619561 D RGD:14402029|PMID:30905785 20190523 RGD 3959 Vdr vitamin D receptor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:619561 D RGD:8158082|PMID:16604479 20140207 RGD DNA:SNP:exon: (rs2228570) (human) 3959 Vdr vitamin D receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11484 D RGD:8158073|PMID:15333467 20140206 RGD 3959 Vdr vitamin D receptor gene DOID:9005372 Inflammation ISO RGD:619561 D RGD:4889832|PMID:20008294 20101209 RGD associated with Respiratory Syncytial Virus Infections 3959 Vdr vitamin D receptor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:9006359 Vitamin D Deficiency ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9525346 3959 Vdr vitamin D receptor gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:619561 D RGD:14401752|PMID:30683615 20190521 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human) 3959 Vdr vitamin D receptor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:11484 D RGD:14401751|PMID:20523341 20190521 RGD 3959 Vdr vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:4889843|PMID:18266602 20101209 RGD DNA:SNP (human) 3959 Vdr vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:4889847|PMID:17703412 20101209 RGD DNA:SNP: :rs10735810 (human) 3959 Vdr vitamin D receptor gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 3959 Vdr vitamin D receptor gene DOID:9007661 Dwarfism ISO RGD:619561 D RGD:13217415|PMID:24015038 20170912 RGD DNA:polymorphism:promoter:rs11568820(human) 3959 Vdr vitamin D receptor gene DOID:9007661 Dwarfism treatment ISO RGD:619561 D RGD:11353416|PMID:26400282 20170915 RGD DNA:SNP:promoter: rs11568820(human) 3959 Vdr vitamin D receptor gene DOID:9007692 Insulin Resistance ISO RGD:11484 D RGD:14402022|PMID:25801026 20190522 RGD 3959 Vdr vitamin D receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11484 D RGD:13432076|PMID:25365634 20170918 RGD mRNA,protein:increased expression, activity:heart: 3959 Vdr vitamin D receptor gene DOID:9008914 Lead Poisoning ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20692022|PMID:23433214 3959 Vdr vitamin D receptor gene DOID:9008939 Breast Neoplasms ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16280049|PMID:22892281 3959 Vdr vitamin D receptor gene DOID:9008939 Breast Neoplasms ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:9065 leishmaniasis ISO RGD:11484 D RGD:8158083|PMID:17551101 20140207 RGD 3959 Vdr vitamin D receptor gene DOID:9206 Barrett's esophagus susceptibility ISO RGD:619561 D RGD:11055189|PMID:25910066 20170906 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) 3959 Vdr vitamin D receptor gene DOID:9351 diabetes mellitus no_association ISO RGD:619561 D RGD:8158070|PMID:22856230 20140206 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) 3959 Vdr vitamin D receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:9446 cholangitis ISO RGD:619561 D RGD:14401745|PMID:28146070 20190521 RGD mRNA,protein:decreased expression:liver 3959 Vdr vitamin D receptor gene DOID:9452 fatty liver disease ISO RGD:11484 D RGD:14402029|PMID:30905785 20190523 RGD 3959 Vdr vitamin D receptor gene DOID:9452 fatty liver disease ISO RGD:619561 D RGD:14402029|PMID:30905785 20190523 RGD 3959 Vdr vitamin D receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3959 Vdr vitamin D receptor gene DOID:987 alopecia ISO RGD:11484|RGD:619561 D RGD:8157637|PMID:11713240 20140204 RGD 3959 Vdr vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:22466564 3959 Vdr vitamin D receptor gene DOID:9970 obesity ISO RGD:619561 D RGD:1331525|PMID:15118671 19990101 GAD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:10205047|PMID:10364675|PMID:10567493|PMID:10761708|PMID:10900011|PMID:11106358|PMID:11114638|PMID:11257211|PMID:11409863|PMID:11739384|PMID:11987242|PMID:12000816|PMID:12114495|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12702509|PMID:12844285|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15574766|PMID:15642664|PMID:15932632|PMID:16210343|PMID:16884327|PMID:17024664|PMID:17102069|PMID:17264095|PMID:17992257|PMID:18446368|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19270817|PMID:19304954|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19602254|PMID:19906784|PMID:20120764|PMID:20447124|PMID:20660572|PMID:21362373|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21876117|PMID:21993671|PMID:22234250|PMID:22393103|PMID:22799452|PMID:23015148|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23842656|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24707167|PMID:24728327|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25563310|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28503092|PMID:28944243|PMID:29595810|PMID:29616089|PMID:29790589|PMID:30042107|PMID:30338240|PMID:30877234|PMID:31132167|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9452032|PMID:9663592|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9215674 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:1580371|PMID:12500216 19990101 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:7240710 20130221 OMIM 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10408776|PMID:10900011|PMID:11331612|PMID:11483638|PMID:12000816|PMID:12393546|PMID:12414898|PMID:12844285|PMID:14722919|PMID:14973063|PMID:15300849|PMID:15611064|PMID:15642680|PMID:16452184|PMID:17102069|PMID:17102080|PMID:17661816|PMID:17922902|PMID:18567581|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19336503|PMID:19464396|PMID:19574279|PMID:19602254|PMID:19763184|PMID:19808854|PMID:20151405|PMID:20660572|PMID:21204227|PMID:21463266|PMID:22145147|PMID:22438210|PMID:22799452|PMID:23397066|PMID:23512077|PMID:23772956|PMID:24033266|PMID:24555745|PMID:24977658|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25741868|PMID:26323595|PMID:26822237|PMID:26845104|PMID:27539324|PMID:28388566|PMID:28432847|PMID:28492532|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29616089|PMID:29891534|PMID:30042107|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9329368|PMID:9663592|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060221 Maffucci syndrome ISO RGD:737311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:16884327|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9663592 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:7240710 20130731 OMIM 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10830910|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11024059|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16103922|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16884328|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17006605|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18031321|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20300531|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20844582|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23538339|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24466223|PMID:24518179 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25640679|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30477447|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:31996412|PMID:32101665|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32420132|PMID:32561571|PMID:32671223|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069305|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9447969|PMID:9452032|PMID:9463336|PMID:9523203|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0080855 Parkinsonism IDA D RGD:2325190|PMID:20302395 20100521 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC PMID:10567493|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:15300849|PMID:18446368|PMID:19270817|PMID:20120764|PMID:21362373|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25157968|PMID:25720320|PMID:25741868|PMID:25867206|PMID:27527340|PMID:27617348|PMID:28492532|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8522307|PMID:8730290|PMID:8956040|PMID:9452032|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:10763 hypertension ISO RGD:737311 D RGD:1580371|PMID:12500216 19990101 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:11054 urinary bladder cancer IEP D RGD:2325183|PMID:19399409 20100521 RGD mRNA:decreased expression:urinary bladder 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:13636 Fanconi anemia ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11171960 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:7240710 20130221 OMIM 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:10955664|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12056827|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15881703|PMID:15932632|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102082|PMID:17102087|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19096585|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19734639|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25741896|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27730413|PMID:27785399|PMID:28052007|PMID:28202063|PMID:28349240|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29437867|PMID:29595810|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29789510|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33618821|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069849|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:14566 disease of cellular proliferation ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10567493|PMID:10761708|PMID:11106358|PMID:11309459|PMID:11409863|PMID:11739384|PMID:12414898|PMID:16809612|PMID:17024664|PMID:17661816|PMID:18676741|PMID:19228690|PMID:19408298|PMID:19906784|PMID:20054297|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:22357542|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25078357|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28469506|PMID:28492532|PMID:28503092|PMID:29748190|PMID:29790589|PMID:29949369|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:2325169|PMID:19690016 20100521 RGD DNA:hypermethylation, deletion:promoter (human) 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:2325176|PMID:9488521 20100521 RGD associated with Hippel-Lindau Disease;DNA:missense mutation:exon:p.R238Q (human) 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma IEP D RGD:625549|PMID:11880179 20100524 RGD protein:decreased expression:kidney 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:2377 multiple sclerosis ISO RGD:737311 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:2394 ovarian cancer ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24727139|PMID:24728327|PMID:25741868|PMID:27498913|PMID:28492532 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:2975 cystic kidney disease ISO RGD:737311 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:305 carcinoma ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737311 D RGD:2325022|PMID:19065635 20100521 RGD DNA:hypermethylation:promoter (human) 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9137812|PMID:10340905|PMID:11171960|PMID:15177666|PMID:19473641|PMID:21097529|PMID:22138691|PMID:23797736|PMID:24755467 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:1580367|PMID:7493907 19990101 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:7240710 20130221 OMIM 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:11986208|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15607616|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29124493|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:4465 papillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10567493|PMID:10900011|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18446368|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8730290|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:4624 Ollier disease ISO RGD:737311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:10088816|PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:17024664|PMID:19228690|PMID:19408298|PMID:19574279|PMID:19906784|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24969085|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:7987306|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9681856|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:5119 ovarian cyst susceptibility ISO RGD:11485 D RGD:155804292|PMID:29684361 20230116 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:630 genetic disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12202531|PMID:16199547|PMID:20233476|PMID:20518900|PMID:20850701|PMID:27527340|PMID:28492532|PMID:29891534|PMID:30900640|PMID:31350093|PMID:8956040|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:6500 cerebellar angioblastoma ISO RGD:737311 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cerebellar hemangioblastoma PMID:10567493|PMID:12114495|PMID:15611064|PMID:22799452|PMID:23384228|PMID:25741868|PMID:28492532|PMID:7728151|PMID:7987306 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:657 adenoma ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737311 D RGD:155882550|PMID:31321740 20230130 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:687 hepatoblastoma ISO RGD:737311 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:19228690|PMID:19574279|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:8432 polycythemia ISO RGD:737311 D RGD:1580368|PMID:16210343 19990101 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:8432 polycythemia ISO RGD:737311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycythemia PMID:15642680|PMID:25637381|PMID:28492532 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2325181|PMID:20125055 20100521 RGD 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms IEP D RGD:625549|PMID:11880179 20100524 RGD protein:decreased expression:kidney 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737311 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10900011|PMID:12000816|PMID:14722919|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18836774|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20660572|PMID:21463266|PMID:22799452|PMID:23512077|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25741868|PMID:26822237|PMID:27539324|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8956040|PMID:9156047|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9005172 Lung Neoplasms ISO RGD:737311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007 sudden infant death syndrome ISS RGD:11485 D RGD:13592920 20180518 MouseDO OMIM:272120 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12510195|PMID:12538644|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15824109|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102082|PMID:17102088|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17992257|PMID:17997830|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21715564|PMID:21784903|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23397066|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28388566|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:33720516|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10567493|PMID:10761708|PMID:11106358|PMID:11739384|PMID:12414898|PMID:19228690|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:737311 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 3960 Vhl von Hippel-Lindau tumor suppressor gene DOID:9970 obesity ISO RGD:737311 D RGD:155882550|PMID:31321740 20230130 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:630 genetic disease ISO RGD:735637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735637 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:735637 D RGD:5685618|PMID:17611633 20120112 RGD 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:8778 Crohn's disease ISO RGD:735637 D RGD:5685618|PMID:17611633 20120112 RGD 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735637 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11486 D RGD:5685622|PMID:21129425 20120112 RGD 3961 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:9164 achalasia onset ISO RGD:735637 D RGD:5685626|PMID:19309439 20120112 RGD DNA:SNP:intron:rs437876 (human) 3962 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:0060180 colitis ISO RGD:737317 D RGD:5685384|PMID:21295288 20120110 RGD 3962 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:12849 autistic disorder ISO RGD:1351062 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3962 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:2661 myoepithelioma ISO RGD:1351062 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 3962 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:5419 schizophrenia ISO RGD:1351062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21285140 3962 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:5419 schizophrenia ISO RGD:1351062 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 3962 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1351062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3963 Vldlr very low density lipoprotein receptor gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:733926 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 3963 Vldlr very low density lipoprotein receptor gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:733926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:11913577|PMID:16080122|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22700954|PMID:22973972|PMID:25741868|PMID:28492532 3963 Vldlr very low density lipoprotein receptor gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:733926 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 3963 Vldlr very low density lipoprotein receptor gene DOID:0070338 cerebellar hypoplasia ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 3963 Vldlr very low density lipoprotein receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733926 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 3963 Vldlr very low density lipoprotein receptor gene DOID:0110014 age related macular degeneration 1 ISS RGD:733927 D RGD:13592920 20180518 MouseDO OMIM:603075 3963 Vldlr very low density lipoprotein receptor gene DOID:1059 intellectual disability ISO RGD:733926 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 3963 Vldlr very low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:733926 D RGD:737739|PMID:7550352 19990101 RGD DNA:repeat 3963 Vldlr very low density lipoprotein receptor gene DOID:10907 microcephaly ISO RGD:733926 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 3963 Vldlr very low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:733927 D RGD:1625570|PMID:10985956 20070614 RGD 3963 Vldlr very low density lipoprotein receptor gene DOID:1184 nephrotic syndrome IEP D RGD:2324668|PMID:9186864 20100510 RGD protein:decreased expression:heart, skeletal muscle (rat) 3963 Vldlr very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 3963 Vldlr very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:2317973|PMID:15820235 20100510 RGD mRNA:increased expression:cerebellum, Brodmann area 9 (human) 3963 Vldlr very low density lipoprotein receptor gene DOID:1307 dementia ISO RGD:733926 D RGD:737740|PMID:11342683 20150216 RGD DNA:repeat 3963 Vldlr very low density lipoprotein receptor gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:2324671|PMID:11786096 20100510 RGD protein:decreased expression:adipose tissue, skeletal muscle (rat) 3963 Vldlr very low density lipoprotein receptor gene DOID:13938 amenorrhea ISO RGD:733926 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 3963 Vldlr very low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:733927 D RGD:1625570|PMID:10985956 20070614 RGD 3963 Vldlr very low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:733926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27000652|PMID:28492532 3963 Vldlr very low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:733927 D RGD:1625573|PMID:8636110 20070614 RGD 3963 Vldlr very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:7240710 20190327 OMIM 3963 Vldlr very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 PMID:11913577|PMID:16080122|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22700954|PMID:22973972|PMID:25741868|PMID:28492532 3963 Vldlr very low density lipoprotein receptor gene DOID:9003936 Cardiomegaly IEP D RGD:1625579|PMID:8603509 20070614 RGD associated with Hypertension; mRNA:decreased expression:heart ventricle 3963 Vldlr very low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625575|PMID:15878964 20070614 RGD protein:decreased expression:heart, skeletal muscle 3963 Vldlr very low density lipoprotein receptor gene DOID:9006534 Nervous System Malformations ISO RGD:733926 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 3963 Vldlr very low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia IEP D RGD:1625577|PMID:9507207 20070614 RGD associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle 3963 Vldlr very low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:733926 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 3963 Vldlr very low density lipoprotein receptor gene DOID:9970 obesity susceptibility ISO RGD:733927 D RGD:1625568|PMID:11557677 20070614 RGD 3965 Trpv2 transient receptor potential cation channel, subfamily V, member 2 gene DOID:630 genetic disease ISO RGD:1346359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3965 Trpv2 transient receptor potential cation channel, subfamily V, member 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1332143 D RGD:9999444|PMID:25869297 20150701 RGD 3965 Trpv2 transient receptor potential cation channel, subfamily V, member 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346359 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 3966 Vsnl1 visinin-like 1 gene DOID:10652 Alzheimer's disease ISO RGD:737420 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25806004 3967 Vtn vitronectin gene DOID:0060903 thrombosis ISO RGD:736955 D RGD:1580815|PMID:15069014 19990101 RGD 3967 Vtn vitronectin gene DOID:11832 visual epilepsy IEP D RGD:10003102|PMID:8721676 20150501 RGD 3967 Vtn vitronectin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:736955 D RGD:1580817|PMID:12126637 19990101 RGD 3967 Vtn vitronectin gene DOID:3049 Churg-Strauss syndrome ISO RGD:736955 D RGD:1580817|PMID:12126637 19990101 RGD 3967 Vtn vitronectin gene DOID:3393 coronary artery disease ISO RGD:736955 D RGD:1580816|PMID:15678274 19990101 RGD 3967 Vtn vitronectin gene DOID:5082 liver cirrhosis ISO RGD:736955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 3967 Vtn vitronectin gene DOID:576 proteinuria IMP D RGD:10003089|PMID:9621282 20150430 RGD associated with Mesangial Proliferative Glomerulonephritis 3967 Vtn vitronectin gene DOID:630 genetic disease ISO RGD:736955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3967 Vtn vitronectin gene DOID:8778 Crohn's disease ISO RGD:736955 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 3967 Vtn vitronectin gene DOID:8947 diabetic retinopathy IEP D RGD:10040982|PMID:8804356 20150507 RGD associated with Diabetes Mellitus, Experimental 3967 Vtn vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:736955 D RGD:1580818|PMID:7536680 19990101 RGD 3967 Vtn vitronectin gene DOID:9002165 Diabetic Nephropathies IEP D RGD:10003096|PMID:11728964 20150501 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:glomerulus 3967 Vtn vitronectin gene DOID:9008604 Radiation Pneumonitis ISO RGD:736955 D RGD:5129484|PMID:20510197 20110330 RGD Protein: increased expression: plasma 3970 Foxn1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:7240710 20130221 OMIM 3970 Foxn1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:10206641|PMID:15180707|PMID:15897400|PMID:16199547|PMID:17576681|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:24033266|PMID:25173801|PMID:25741868|PMID:27484032|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612|PMID:9536098 3970 Foxn1 forkhead box N1 gene DOID:11198 DiGeorge syndrome ISS RGD:11489 D RGD:13592920 20180518 MouseDO OMIM:188400 3970 Foxn1 forkhead box N1 gene DOID:11200 T cell deficiency ISO RGD:1349825 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: T-lymphocyte deficiency PMID:10206641|PMID:15180707|PMID:28492532|PMID:31447097|PMID:31566583 3970 Foxn1 forkhead box N1 gene DOID:12849 autistic disorder ISO RGD:1349825 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Autism 3970 Foxn1 forkhead box N1 gene DOID:4123 nail disease ISO RGD:1349825 D RGD:1599846|PMID:10206641 20070219 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 3970 Foxn1 forkhead box N1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349825 D RGD:1599846|PMID:10206641 20070219 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 3970 Foxn1 forkhead box N1 gene DOID:630 genetic disease ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 3970 Foxn1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:7240710 20200826 OMIM 3970 Foxn1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant PMID:10206641|PMID:15180707|PMID:15897400|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:25741868|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612 3970 Foxn1 forkhead box N1 gene DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20161212 RGD 3970 Foxn1 forkhead box N1 gene DOID:987 alopecia ISO RGD:1349825 D RGD:1599846|PMID:10206641 20070219 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 3972 Wnt3 Wnt family member 3 gene DOID:0050746 mantle cell lymphoma ISO RGD:30308771 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 3972 Wnt3 Wnt family member 3 gene DOID:0060224 atrial fibrillation ISO RGD:30308771 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 3972 Wnt3 Wnt family member 3 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:30308771 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 3972 Wnt3 Wnt family member 3 gene DOID:0112192 tetraamelia syndrome 1 ISO RGD:30308771 D RGD:7240710 20200624 OMIM 3972 Wnt3 Wnt family member 3 gene DOID:0112192 tetraamelia syndrome 1 ISO RGD:30308771 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 1 PMID:14872406 3972 Wnt3 Wnt family member 3 gene DOID:1790 malignant mesothelioma ISO RGD:30308771 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 3972 Wnt3 Wnt family member 3 gene DOID:2871 endometrial carcinoma ISO RGD:1344120 D RGD:2291875|PMID:9099960 20080725 RGD 3972 Wnt3 Wnt family member 3 gene DOID:630 genetic disease ISO RGD:30308771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3972 Wnt3 Wnt family member 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:30308771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532 3972 Wnt3 Wnt family member 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11492 D RGD:2298804|PMID:10918574 20080725 RGD 3972 Wnt3 Wnt family member 3 gene DOID:9000545 Ectromelia ISO RGD:1344120 D RGD:1599852|PMID:14872406 20070219 RGD tetra-amelia, OMIM:273395 3972 Wnt3 Wnt family member 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344120|RGD:11492 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 3974 Wt1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:7240710 20130221 OMIM 3974 Wt1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:0050933 ovarian serous carcinoma ISO RGD:69122 D RGD:2315539|PMID:19856421 20100104 RGD 3974 Wt1 WT1 transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 3974 Wt1 WT1 transcription factor gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:69122 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19484379|PMID:20442690|PMID:21499692|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:7240710 20130221 OMIM 3974 Wt1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:10094551|PMID:10470095|PMID:10505700|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11278460|PMID:11322369|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:21125408|PMID:21499692|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:33226606|PMID:34386660|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia PMID:12640141|PMID:16987884|PMID:25741868|PMID:28492532|PMID:28811308|PMID:8621495 3974 Wt1 WT1 transcription factor gene DOID:0111365 benign familial hematuria ISO RGD:69122 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:1059 intellectual disability ISO RGD:69122 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 3974 Wt1 WT1 transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:69122 D RGD:1580623|PMID:12914969 19990101 RGD 3974 Wt1 WT1 transcription factor gene DOID:1184 nephrotic syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:19484379|PMID:20442690|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24161391|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:29668062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:12271 aniridia ISO RGD:69122 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism 3974 Wt1 WT1 transcription factor gene DOID:1240 leukemia ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 3974 Wt1 WT1 transcription factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10571943|PMID:11241055|PMID:11738793|PMID:12471221|PMID:15150775|PMID:15483024|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20595692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:23117548|PMID:23515051|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26467025|PMID:26725263|PMID:28492532|PMID:30406062|PMID:33226606|PMID:34386660|PMID:7795587|PMID:8388765|PMID:9108089|PMID:9531607 3974 Wt1 WT1 transcription factor gene DOID:1324 lung cancer ISO RGD:69122 D RGD:153344578|PMID:27821145 20220829 RGD mRNA:decreased expression:lung (human) 3974 Wt1 WT1 transcription factor gene DOID:1380 endometrial cancer disease_progression ISO RGD:69122 D RGD:2315542|PMID:19443388 20100104 RGD 3974 Wt1 WT1 transcription factor gene DOID:14447 gonadal dysgenesis ISO RGD:69122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis PMID:25741868 3974 Wt1 WT1 transcription factor gene DOID:14515 WAGR syndrome ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 3974 Wt1 WT1 transcription factor gene DOID:14515 WAGR syndrome ISO RGD:69122 D RGD:1331525|PMID:15118671 19990101 GAD 3974 Wt1 WT1 transcription factor gene DOID:14515 WAGR syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:1612 breast cancer disease_progression ISO RGD:69122 D RGD:2315543|PMID:19407365 20100104 RGD 3974 Wt1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 3974 Wt1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:7240710 20131030 OMIM 3974 Wt1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:1793 pancreatic cancer ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19196508 3974 Wt1 WT1 transcription factor gene DOID:1923 disorder of sexual development ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:15591903|PMID:28825729 3974 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:1331525|PMID:15118671 19990101 GAD 3974 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:2315544|PMID:1316081 20100104 RGD 3974 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:2315545|PMID:8381965 20100104 RGD DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human) 3974 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:7240710 20130221 OMIM 3974 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1654525|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:18688870|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22703879|PMID:22796116|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26822237|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:35535697|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:2394 ovarian cancer ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:2921 glomerulonephritis ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 3974 Wt1 WT1 transcription factor gene DOID:3068 glioblastoma ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20820871 3974 Wt1 WT1 transcription factor gene DOID:3192 neurilemmoma ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25474318 3974 Wt1 WT1 transcription factor gene DOID:3347 osteosarcoma ISO RGD:69122 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28107196 3974 Wt1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:1580624|PMID:12161615 19990101 RGD 3974 Wt1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:7240710 20130221 OMIM 3974 Wt1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12024052|PMID:12050205|PMID:12471221|PMID:12640141|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:1350671|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:15957141|PMID:16199547|PMID:1655284|PMID:1658787|PMID:16717397|PMID:16932893|PMID:16987884|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:20595692|PMID:21125408|PMID:21384108|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22465478|PMID:22703879|PMID:22876585|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24161391|PMID:24379226|PMID:24402088|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26661695|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27241786|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28529006|PMID:28658201|PMID:28780565|PMID:28811308|PMID:29668062|PMID:30221469|PMID:30406062|PMID:30655312|PMID:30668521|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32493750|PMID:32581362|PMID:32604935|PMID:33226606|PMID:34386660|PMID:35535697|PMID:5665984|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8411073|PMID:8621495|PMID:8810912|PMID:8956030|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9817285 3974 Wt1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21072664 3974 Wt1 WT1 transcription factor gene DOID:5176 renal Wilms' tumor ISO RGD:69122 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 3974 Wt1 WT1 transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26358501 3974 Wt1 WT1 transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:69122 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 3974 Wt1 WT1 transcription factor gene DOID:557 kidney disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:576 proteinuria ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:630 genetic disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15150775|PMID:19048299|PMID:25741868|PMID:28492532|PMID:9108089 3974 Wt1 WT1 transcription factor gene DOID:784 chronic kidney disease ISO RGD:69122 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 3974 Wt1 WT1 transcription factor gene DOID:784 chronic kidney disease treatment ISO RGD:69122 D RGD:155631310|PMID:33298161 20221101 RGD human cells in rat model 3974 Wt1 WT1 transcription factor gene DOID:8552 chronic myeloid leukemia ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 3974 Wt1 WT1 transcription factor gene DOID:9001834 Peritoneal Neoplasms ISO RGD:69122 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 3974 Wt1 WT1 transcription factor gene DOID:9002455 Aniridia 1 ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18618575|PMID:19205749|PMID:19221039|PMID:20106868|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24728327|PMID:24856380|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:26661695|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28780565|PMID:30406062|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:33226606|PMID:34386660|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 3974 Wt1 WT1 transcription factor gene DOID:9003125 Male Genital Neoplasms ISO RGD:69122 D RGD:2315541|PMID:19543245 20100104 RGD 3974 Wt1 WT1 transcription factor gene DOID:9003566 Mesothelioma ISO RGD:69122 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:4332312|PMID:8298644 3974 Wt1 WT1 transcription factor gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 3974 Wt1 WT1 transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11493 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 3974 Wt1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 3974 Wt1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:7240710 20130221 OMIM 3974 Wt1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome PMID:10470095|PMID:10505700|PMID:10603123|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1317572|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:22099579|PMID:22172722|PMID:23325811|PMID:23497137|PMID:23562652|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24728327|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27300205|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28529006|PMID:29474669|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9916932 3974 Wt1 WT1 transcription factor gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189 3974 Wt1 WT1 transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 3974 Wt1 WT1 transcription factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 3974 Wt1 WT1 transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:69122 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:19822134|PMID:27992414 3974 Wt1 WT1 transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:24374862|PMID:24422723|PMID:24521058|PMID:24659740|PMID:24667279|PMID:24671364|PMID:25145932|PMID:25741868 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:733855 D RGD:8698657|PMID:16497868 20140812 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:1993 rectum cancer susceptibility ISO RGD:733855 D RGD:151361212|PMID:26735576 20220301 RGD DNA:SNP:3'utr: (rs1051677) (human) 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:2513 basal cell carcinoma ISO RGD:733855 D RGD:8698657|PMID:16497868 20140812 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:733855 D RGD:8698653|PMID:20463177 20140812 RGD DNA:SNPs:multiple (human) 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:3910 lung adenocarcinoma ISO RGD:733855 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:630 genetic disease ISO RGD:733855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733855 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:9006205 Animal Disease Models ISO RGD:733855 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 3976 Xrcc5 X-ray repair cross complementing 5 gene DOID:9538 multiple myeloma susceptibility ISO RGD:733855 D RGD:8698655|PMID:17901044 20140812 RGD DNA:SNP:3'-UTR (human) 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1321347 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1321347 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:1657 ventricular septal defect ISO RGD:1321347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1321347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:6406 double outlet right ventricle ISO RGD:1321347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9003191 Vascular Malformations ISO RGD:1321347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321347 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007023 Prenatal Injuries ISO RGD:1321347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 3977 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1550106 D RGD:329337366|PMID:30259997 20230428 RGD mRNA,protein:increased expression:myocardium (mouse) 3978 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta gene DOID:0050700 cardiomyopathy ISO RGD:737555 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18342293 3978 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:737555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 3978 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta gene DOID:5419 schizophrenia IEA D RGD:1331525|PMID:15118671 19990101 GAD 3978 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta gene DOID:630 genetic disease ISO RGD:737555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3978 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737555 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18342293 3979 Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta gene DOID:630 genetic disease ISO RGD:734393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3979 Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta gene DOID:8398 osteoarthritis ISO RGD:734393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:0111590 Cohen syndrome ISO RGD:736756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:10763 hypertension treatment IEP D RGD:9587480|PMID:22984478 20141015 RGD 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:11832 visual epilepsy IEP D RGD:1625714|PMID:16981892 20070627 RGD protein:decreased expression:hippocampus 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:1825 childhood absence epilepsy IEP D RGD:9587483|PMID:21310218 20141015 RGD protein:increased expression:parietal lobe 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:305 carcinoma ISO RGD:736756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:5419 schizophrenia ISS RGD:11498 D RGD:13592920 20180518 MouseDO OMIM:181500 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:684 hepatocellular carcinoma severity ISO RGD:736756 D RGD:14700875|PMID:27811373 20190822 RGD 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16849584 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 3980 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta gene DOID:9007993 Dehydration IEP D RGD:9587478|PMID:17927670 20141015 RGD mRNA, protein:increased expression:supraoptic nucleus, pituitary 3982 Yy1 YY1 transcription factor gene DOID:1059 intellectual disability ISO RGD:736235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 3982 Yy1 YY1 transcription factor gene DOID:1059 intellectual disability ISO RGD:736235 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 3982 Yy1 YY1 transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11500 D RGD:1580831|PMID:12754214 19990101 RGD 3982 Yy1 YY1 transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:736235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 3982 Yy1 YY1 transcription factor gene DOID:4769 pleuropulmonary blastoma ISS RGD:11500 D RGD:13592920 20180518 MouseDO OMIM:601200 3982 Yy1 YY1 transcription factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 3982 Yy1 YY1 transcription factor gene DOID:6000 congestive heart failure ISO RGD:736235 D RGD:1580831|PMID:12754214 20141023 RGD 3982 Yy1 YY1 transcription factor gene DOID:630 genetic disease ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28575647 3982 Yy1 YY1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:736235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 3982 Yy1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:7240710 20190315 OMIM 3982 Yy1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gabriele de Vries syndrome PMID:21076407|PMID:25741868|PMID:28575647 3982 Yy1 YY1 transcription factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736235 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35445903 3982 Yy1 YY1 transcription factor gene DOID:9002514 Neointima treatment IMP D RGD:9588268|PMID:21030713 20141023 RGD 3982 Yy1 YY1 transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736235 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 3982 Yy1 YY1 transcription factor gene DOID:9003936 Cardiomegaly IDA D RGD:1580832|PMID:15567155 19990101 RGD 3982 Yy1 YY1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736235 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 3982 Yy1 YY1 transcription factor gene DOID:9538 multiple myeloma ISO RGD:736235 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 3982 Yy1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:9588271|PMID:15234341 20141023 RGD DNA:SNPs:intron 3982 Yy1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus treatment IEP D RGD:9588274|PMID:15619288 20141023 RGD 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:7240710 20141015 OMIM 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency PMID:10574909|PMID:11412303|PMID:16199547|PMID:17576681|PMID:20301777|PMID:21441961|PMID:24033266|PMID:24164480|PMID:25627829|PMID:25741868|PMID:26783323|PMID:27448562|PMID:28124082|PMID:28216435|PMID:28492532|PMID:29684201|PMID:30778343|PMID:8124727|PMID:8202712|PMID:8202713|PMID:9536098 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:0111962 combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:612 primary immunodeficiency disease ISO RGD:1349191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17767948 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:627 severe combined immunodeficiency ISO RGD:1349191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8202713 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:627 severe combined immunodeficiency ISO RGD:1349191 D RGD:1599880|PMID:8124727 20070220 RGD selective T-cell defect, OMIM:176947 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:627 severe combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:28492532 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:630 genetic disease ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:7148 rheumatoid arthritis ISS RGD:11501 D RGD:13592920 20180518 MouseDO OMIM:180300 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:9003794 T Cell Immunodeficiency Primary ISO RGD:1349191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8124727 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:7240710 20190315 OMIM 3983 Zap70 zeta chain of T cell receptor associated protein kinase 70 gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 2 PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 3986 Rnf112 ring finger protein 112 gene DOID:0050777 Joubert syndrome ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 3986 Rnf112 ring finger protein 112 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:68995 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 3986 Rnf112 ring finger protein 112 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 3986 Rnf112 ring finger protein 112 gene DOID:12849 autistic disorder ISO RGD:68995 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 3986 Rnf112 ring finger protein 112 gene DOID:630 genetic disease ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3986 Rnf112 ring finger protein 112 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 3988 Map3k12 mitogen activated protein kinase kinase kinase 12 gene DOID:630 genetic disease ISO RGD:737536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 3988 Map3k12 mitogen activated protein kinase kinase kinase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737536 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40818872 CVCL_ZW08 P11 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C132194 40818873 CVCL_ZW09 SUP1 cell line DOID:9002234 Pituitary Neoplasms IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C132194 40819761 CVCL_A9C2 dRLh-82 cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C60416 40902835 Atrnmv attractin; myelin vacuolation mutant gene DOID:9000495 Tremor IAGP D RGD:1299186|PMID:12379762 20201214 RGD 40902839 Mertkrdy MER proto-oncogene, tyrosine kinase; retinal dystrophy mutant gene DOID:8466 retinal degeneration IAGP D RGD:69668|PMID:11592982 20201214 RGD 40902840 Esr2em1Soar estrogen receptor 2; ZFN induced mutant 1, Soar gene DOID:9007456 Female Infertility IMP D RGD:38548924|PMID:28520870 20201214 RGD 40924649 Beta IIM strain DOID:9970 obesity IAGP D RGD:724733|PMID:3440679 20210118 RGD compared to Alpha IIM 40929687 Snora35 small nucleolar RNA, H/ACA box 35 gene DOID:12849 autistic disorder ISO RGD:1602580 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40929687 Snora35 small nucleolar RNA, H/ACA box 35 gene DOID:5419 schizophrenia ISO RGD:1602580 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40931516 LOC120098709 small nucleolar RNA SNORD111 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1626520 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 40932177 Snord21 small nucleolar RNA, C/D box 21 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1352254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 40932177 Snord21 small nucleolar RNA, C/D box 21 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19061985|PMID:19773262|PMID:22689679|PMID:28492532 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:0080324 tuberous sclerosis 1 ISO RGD:2302446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:0081097 Rafiq syndrome ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:2302446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 40933303 Rnu6atac RNA, U6atac small nuclear gene DOID:3652 Leigh disease ISO RGD:2302446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 40933704 C1h10orf95 similar to human chromosome 10 open reading frame 95 gene DOID:630 genetic disease ISO RGD:1349493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40938591 LOC120103107 PRAME family member 12-like gene DOID:630 genetic disease ISO RGD:1353931 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40939369 Snord113l1 small nucleolar RNA, C/D box 113 like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602508 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 40940351 LOC120094883 small nucleolar RNA SNORD82 gene DOID:0060476 Perlman syndrome ISO RGD:1352574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 40940351 LOC120094883 small nucleolar RNA SNORD82 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1352574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 40944949 Snord26 small nucleolar RNA, C/D box 26 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 40944949 Snord26 small nucleolar RNA, C/D box 26 gene DOID:1059 intellectual disability ISO RGD:1348733 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability 40948519 LOC120099522 small nucleolar RNA SNORA11 gene DOID:12849 autistic disorder ISO RGD:1642113 D RGD:8554872 20220111 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40949806 Snord12 small nucleolar RNA, C/D box 12 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1602749 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 40952207 Snora69 small nucleolar RNA, H/ACA box 69 gene DOID:12849 autistic disorder ISO RGD:1344266 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40952268 LOC120094547 small nucleolar RNA SNORD14 gene DOID:5419 schizophrenia ISO RGD:2798088 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40952513 Snord15a small nucleolar RNA, C/D box 15A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1343552 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 40952513 Snord15a small nucleolar RNA, C/D box 15A gene DOID:1059 intellectual disability ISO RGD:1343552 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability 40957660 Rnu12-2l1 RNA, U12 small nuclear 2 like 1 gene DOID:9005626 Craniosynostosis, Anal Anomalies, and Porokeratosis ISO RGD:1344410 D RGD:7240710 20230208 OMIM 40957660 Rnu12-2l1 RNA, U12 small nuclear 2 like 1 gene DOID:9005626 Craniosynostosis, Anal Anomalies, and Porokeratosis ISO RGD:1344410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDAGS syndrome PMID:23602181|PMID:2400728|PMID:28217872|PMID:34085356|PMID:9733036 40957660 Rnu12-2l1 RNA, U12 small nuclear 2 like 1 gene DOID:9006060 Autosomal Recessive Spinocerebellar Ataxia 33 ISO RGD:1344410 D RGD:7240710 20230208 OMIM 40957660 Rnu12-2l1 RNA, U12 small nuclear 2 like 1 gene DOID:9006060 Autosomal Recessive Spinocerebellar Ataxia 33 ISO RGD:1344410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 33 PMID:27863452 40958426 Trim56 tripartite motif containing 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342742 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 40958426 Trim56 tripartite motif containing 56 gene DOID:630 genetic disease ISO RGD:1342742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40958426 Trim56 tripartite motif containing 56 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1342742 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 40958853 Enosf1 enolase superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1346972 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40958853 Enosf1 enolase superfamily member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1346972 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 40958853 Enosf1 enolase superfamily member 1 gene DOID:630 genetic disease ISO RGD:1346972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40958853 Enosf1 enolase superfamily member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346972 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 40958853 Enosf1 enolase superfamily member 1 gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:1346972 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 40958853 Enosf1 enolase superfamily member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1346972 D RGD:152995291|PMID:28347776 20220614 RGD DNA:SNP:cds:rs699517 (human) 40961944 LOC120094943 small nucleolar RNA SNORD70 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:12738266 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 40965335 LOC120094548 small nucleolar RNA SNORD14 gene DOID:5419 schizophrenia ISO RGD:2798093 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 40973363 Snord66 small nucleolar RNA, C/D box 66 gene DOID:0111546 Currarino syndrome ISO RGD:1602543 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 40977068 LOC120095898 paired immunoglobulin-like type 2 receptor beta gene DOID:630 genetic disease ISO RGD:1352896 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 40982935 LOC120099290 embryonic testis differentiation protein-like gene DOID:12849 autistic disorder ISO RGD:13461897 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40982944 Snord61 small nucleolar RNA, C/D box 61 gene DOID:12849 autistic disorder ISO RGD:1354078 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 40986000 Snord83b small nucleolar RNA, C/D box 83B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 40994666 Rnvu1-6 RNA, variant U1 small nuclear 6 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:7249811 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 40994666 Rnvu1-6 RNA, variant U1 small nuclear 6 gene DOID:5419 schizophrenia ISO RGD:7249811 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41004670 LOC120094946 small nucleolar RNA SNORD11 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1602748 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 41006340 LOC120098377 U1 spliceosomal RNA gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1350487 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 41006340 LOC120098377 U1 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:1350487 D RGD:9068941 20230330 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41006340 LOC120098377 U1 spliceosomal RNA gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350487 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 41006340 LOC120098377 U1 spliceosomal RNA gene DOID:5419 schizophrenia ISO RGD:1350487 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41012016 LOC120101957 5.8S ribosomal RNA gene DOID:0080600 COVID-19 ISO RGD:12904347 D RGD:9068941 20230330 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41012133 LOC120099421 U6 spliceosomal RNA gene DOID:9005539 Familial Prostate Cancer ISO RGD:10399185 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 41013199 Snora73bl1 small nucleolar RNA, H/ACA box 73B like 1 gene DOID:0080600 COVID-19 ISO RGD:1345459 D RGD:9068941 20220428 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41013737 LOC120094881 small nucleolar RNA SNORA75 gene DOID:0080600 COVID-19 ISO RGD:1602778 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41020681 Snord43l1 small nucleolar RNA, C/D box 43 like 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1346020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 41025228 LOC120095536 protein FAM246A-like gene DOID:11198 DiGeorge syndrome ISO RGD:26923941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 41025228 LOC120095536 protein FAM246A-like gene DOID:12583 velocardiofacial syndrome ISO RGD:26923941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 41025228 LOC120095536 protein FAM246A-like gene DOID:5419 schizophrenia ISO RGD:26923941 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41035339 Snora28l1 small nucleolar RNA, H/ACA box 28 like 1 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1602585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 41045133 Muc3a mucin 3A, cell surface associated gene DOID:1324 lung cancer ISO RGD:736898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 41045133 Muc3a mucin 3A, cell surface associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736898 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 41045133 Muc3a mucin 3A, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:736898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 41048632 Snora64 small nucleolar RNA, H/ACA box 64 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1342964 D RGD:8554872 20220111 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 41049731 Snord27 small nucleolar RNA, C/D box 27 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1352918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 41049731 Snord27 small nucleolar RNA, C/D box 27 gene DOID:1059 intellectual disability ISO RGD:1352918 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability 41054606 Snord107 small nucleolar RNA, C/D box 107 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 41054606 Snord107 small nucleolar RNA, C/D box 107 gene DOID:12849 autistic disorder ISO RGD:1606194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 41054606 Snord107 small nucleolar RNA, C/D box 107 gene DOID:1932 Angelman syndrome ISO RGD:1606194 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 41054606 Snord107 small nucleolar RNA, C/D box 107 gene DOID:5419 schizophrenia ISO RGD:1606194 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41067318 LOC120101449 olfactory receptor 8J3-like gene DOID:1059 intellectual disability ISO RGD:1348514 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Intellectual disability 41067318 LOC120101449 olfactory receptor 8J3-like gene DOID:630 genetic disease ISO RGD:1348514 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41070333 Snora31 small nucleolar RNA, H/ACA box 31 gene DOID:9002973 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10 susceptibility ISO RGD:1602582 D RGD:7240710 20221116 OMIM 41074883 Tusc1 tumor suppressor candidate 1 gene DOID:630 genetic disease ISO RGD:1606109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41081613 Snora54 small nucleolar RNA, H/ACA box 54 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602564 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 41081789 LOC120102747 small nucleolar RNA U89 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602762 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:1540 parathyroid carcinoma ISO RGD:1606237 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:5812 MHC class II deficiency ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:630 genetic disease ISO RGD:1606237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41092593 C2h1orf54 similar to human chromosome 1 open reading frame 54 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606237 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 41100346 Snord22 small nucleolar RNA, C/D box 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 41100346 Snord22 small nucleolar RNA, C/D box 22 gene DOID:1059 intellectual disability ISO RGD:1344519 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability 41100346 Snord22 small nucleolar RNA, C/D box 22 gene DOID:3910 lung adenocarcinoma ISO RGD:1344519 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 41100346 Snord22 small nucleolar RNA, C/D box 22 gene DOID:9006205 Animal Disease Models ISO RGD:1344519 D RGD:11554173 20211228 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 41108358 LOC120100291 small nucleolar RNA SNORD115 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:5483724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 41108358 LOC120100291 small nucleolar RNA SNORD115 gene DOID:12849 autistic disorder ISO RGD:5483724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 41108358 LOC120100291 small nucleolar RNA SNORD115 gene DOID:1932 Angelman syndrome ISO RGD:5483724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 41108358 LOC120100291 small nucleolar RNA SNORD115 gene DOID:5419 schizophrenia ISO RGD:5483724 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41114231 Snord111 small nucleolar RNA, C/D box 111 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602358 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 41124527 Defb34 defensin beta 34 gene DOID:630 genetic disease ISO RGD:1347359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41128145 LOC120094947 small nucleolar RNA SNORD11B gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1626523 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 41128381 Ubtfl1 upstream binding transcription factor like 1 gene DOID:1059 intellectual disability ISO RGD:1312367 D RGD:8554872 20220524 ClinVar ClinVar Annotator: match by term: Intellectual disability 41128381 Ubtfl1 upstream binding transcription factor like 1 gene DOID:630 genetic disease ISO RGD:1312367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41128381 Ubtfl1 upstream binding transcription factor like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312367 D RGD:8554872 20220524 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 41129606 LOC120096085 U4 spliceosomal RNA gene DOID:0080600 COVID-19 ISO RGD:1342825 D RGD:9068941 20211224 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41140059 LOC120095472 small nucleolar RNA ACA64 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1602553 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 41150048 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353050 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 41150048 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 41150048 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1353050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 41150048 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:630 genetic disease ISO RGD:1353050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41150048 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353050 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 41150048 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 41152591 Slc2a4rg SLC2A4 regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 41152591 Slc2a4rg SLC2A4 regulator gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1343076 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 41152591 Slc2a4rg SLC2A4 regulator gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1343076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 41152591 Slc2a4rg SLC2A4 regulator gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1343076 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 41152591 Slc2a4rg SLC2A4 regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 41152591 Slc2a4rg SLC2A4 regulator gene DOID:10283 prostate cancer ISO RGD:1343076 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 41152591 Slc2a4rg SLC2A4 regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 41152591 Slc2a4rg SLC2A4 regulator gene DOID:630 genetic disease ISO RGD:1343076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41153847 LOC120094885 small nucleolar RNA SNORD20 gene DOID:0060476 Perlman syndrome ISO RGD:1351179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 41153847 LOC120094885 small nucleolar RNA SNORD20 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1351179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 41160673 Reeld1 reeler domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:13208696 D RGD:9068941 20210205 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41160946 LOC120094942 small nucleolar RNA SNORD70 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1602540 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 41171735 Snord12c small nucleolar RNA, C/D box 12C gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1602330 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 41174017 Asdurf ASNSD1 upstream open reading frame gene DOID:630 genetic disease ISO RGD:13207374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41174715 Snord12b small nucleolar RNA, C/D box 12B gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1626522 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 41178013 Snora66 small nucleolar RNA, H/ACA box 66 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 41182145 Snord87 small nucleolar RNA, C/D box 87 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1602235 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 41186814 Htd2 hydroxyacyl-thioester dehydratase type 2 gene DOID:630 genetic disease ISO RGD:12904515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41192302 LOC120095726 small nucleolar RNA SNORA63 gene DOID:0060575 3MC syndrome 1 ISO RGD:1348131 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 41193534 Znf8 zinc finger protein 8 gene DOID:630 genetic disease ISO RGD:1321682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41199209 Snord45l1 small nucleolar RNA, C/D box 45 like 1 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1351466 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 41199729 Or10g6 olfactory receptor family 10 subfamily G member 6 gene DOID:5419 schizophrenia ISO RGD:1354122 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41201263 Zxdb zinc finger, X-linked, duplicated B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 41201263 Zxdb zinc finger, X-linked, duplicated B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1351401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 41201263 Zxdb zinc finger, X-linked, duplicated B gene DOID:12849 autistic disorder ISO RGD:1351401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 41201263 Zxdb zinc finger, X-linked, duplicated B gene DOID:630 genetic disease ISO RGD:1351401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41201883 Hbb-b2 hemoglobin, beta adult minor chain gene DOID:12241 beta thalassemia ISO RGD:733746 D RGD:11554173 20220802 CTD CTD Direct Evidence: marker/mechanism PMID:17018382 41204336 LOC120098363 small nucleolar RNA SNORA42/SNORA80 family gene DOID:9005698 ZTTK Syndrome ISO RGD:1602551 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 41213597 Snord45c small nucleolar RNA, C/D box 45C gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1602741 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 41216075 Anhx anomalous homeobox gene DOID:630 genetic disease ISO RGD:6483645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41216273 Scarna18b small Cajal body-specific RNA 18B gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:11041824 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 41224543 Snord113l2 small nucleolar RNA, C/D box 113 like 2 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602530 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 41227585 LOC120094549 U5 spliceosomal RNA gene DOID:0110935 nemaline myopathy 6 ISO RGD:1353881 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 41227585 LOC120094549 U5 spliceosomal RNA gene DOID:2717 Bloom syndrome ISO RGD:1353881 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 41227585 LOC120094549 U5 spliceosomal RNA gene DOID:9256 colorectal cancer ISO RGD:1353881 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 41235940 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1602900 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 41235940 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:0080600 COVID-19 ISO RGD:1602900 D RGD:9068941 20220217 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 41235940 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:305 carcinoma ISO RGD:1602900 D RGD:11554173 20220222 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 41235940 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:630 genetic disease ISO RGD:1602900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41235940 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1602900 D RGD:11554173 20220222 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 41237504 Caps calcyphosine gene DOID:630 genetic disease ISO RGD:1348480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41241227 LOC120095693 small ubiquitin-related modifier 2-like gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:1349888 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 41241227 LOC120095693 small ubiquitin-related modifier 2-like gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1349888 D RGD:7240710 20220406 OMIM 41241227 LOC120095693 small ubiquitin-related modifier 2-like gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1349888 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 41241227 LOC120095693 small ubiquitin-related modifier 2-like gene DOID:630 genetic disease ISO RGD:1349888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41247311 LOC120100287 small nucleolar RNA SNORD115 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606592 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 41247311 LOC120100287 small nucleolar RNA SNORD115 gene DOID:12849 autistic disorder ISO RGD:1606592 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 41247311 LOC120100287 small nucleolar RNA SNORD115 gene DOID:1932 Angelman syndrome ISO RGD:1606592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 41247311 LOC120100287 small nucleolar RNA SNORD115 gene DOID:5419 schizophrenia ISO RGD:1606592 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41248356 Snora5c small nucleolar RNA, H/ACA box 5C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602754 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 41251909 LOC120094448 small nucleolar RNA SNORA16B/SNORA16A family gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1602536 D RGD:11554173 20230418 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 41259569 Snora81 small nucleolar RNA, H/ACA box 81 gene DOID:0060575 3MC syndrome 1 ISO RGD:1602550 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 41266353 Snord64 small nucleolar RNA, C/D box 64 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1605532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 41266353 Snord64 small nucleolar RNA, C/D box 64 gene DOID:12849 autistic disorder ISO RGD:1605532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 41266353 Snord64 small nucleolar RNA, C/D box 64 gene DOID:1932 Angelman syndrome ISO RGD:1605532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 41266353 Snord64 small nucleolar RNA, C/D box 64 gene DOID:5419 schizophrenia ISO RGD:1605532 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41266373 LOC120099517 small nucleolar RNA SNORA35 gene DOID:12849 autistic disorder ISO RGD:12738316 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 41266373 LOC120099517 small nucleolar RNA SNORA35 gene DOID:5419 schizophrenia ISO RGD:12738316 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41267733 Scarna18 small Cajal body-specific RNA 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602774 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 41269461 Ncbp2as2 NCBP2 antisense 2 (head to head) gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:2291780 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 41269461 Ncbp2as2 NCBP2 antisense 2 (head to head) gene DOID:12849 autistic disorder ISO RGD:2291780 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 41269461 Ncbp2as2 NCBP2 antisense 2 (head to head) gene DOID:5419 schizophrenia ISO RGD:2291780 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41272581 Lrrc70 leucine rich repeat containing 70 gene DOID:630 genetic disease ISO RGD:2302535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41272581 Lrrc70 leucine rich repeat containing 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302535 D RGD:8554872 20210223 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 41275348 Snord60 small nucleolar RNA, C/D box 60 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344326 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 41275348 Snord60 small nucleolar RNA, C/D box 60 gene DOID:2871 endometrial carcinoma ISO RGD:1344326 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 41276988 Snord114-9 small nucleolar RNA, C/D box 114-9 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602515 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 41278287 Snord118 small nucleolar RNA, C/D box 118 gene DOID:0070115 Meckel syndrome 1 ISO RGD:2859191 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:27571260 41278287 Snord118 small nucleolar RNA, C/D box 118 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2859191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 41278287 Snord118 small nucleolar RNA, C/D box 118 gene DOID:2729 dyskeratosis congenita ISO RGD:2859191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 41278287 Snord118 small nucleolar RNA, C/D box 118 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:2859191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 41278287 Snord118 small nucleolar RNA, C/D box 118 gene DOID:9003124 Labrune Syndrome ISO RGD:2859191 D RGD:7240710 20211222 OMIM 41278287 Snord118 small nucleolar RNA, C/D box 118 gene DOID:9003124 Labrune Syndrome ISO RGD:2859191 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:31521395|PMID:32342562|PMID:33029936 41288257 Thsd8 thrombospondin type 1 domain containing 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1620125 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:12738285 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:12738285 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:11198 DiGeorge syndrome ISO RGD:12738285 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:12583 velocardiofacial syndrome ISO RGD:12738285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:12849 autistic disorder ISO RGD:12738285 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:5419 schizophrenia ISO RGD:12738285 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41291498 LOC120095775 small nucleolar RNA SNORA77 gene DOID:9007661 Dwarfism ISO RGD:12738285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 41303933 Snora52 small nucleolar RNA, H/ACA box 52 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602242 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 41309315 LOC120100235 small nucleolar RNA SNORD115 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:6481499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 41309315 LOC120100235 small nucleolar RNA SNORD115 gene DOID:12849 autistic disorder ISO RGD:6481499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 41309315 LOC120100235 small nucleolar RNA SNORD115 gene DOID:1932 Angelman syndrome ISO RGD:6481499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 41309315 LOC120100235 small nucleolar RNA SNORD115 gene DOID:5419 schizophrenia ISO RGD:6481499 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41311430 LOC120100294 small nucleolar RNA SNORD116 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1604110 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 41311430 LOC120100294 small nucleolar RNA SNORD116 gene DOID:12849 autistic disorder ISO RGD:1604110 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 41311430 LOC120100294 small nucleolar RNA SNORD116 gene DOID:1932 Angelman syndrome ISO RGD:1604110 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:25099823|PMID:25212744|PMID:28492532 41311430 LOC120100294 small nucleolar RNA SNORD116 gene DOID:5419 schizophrenia ISO RGD:1604110 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41322845 LOC120099525 small nucleolar RNA SNORA11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602751 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 41322845 LOC120099525 small nucleolar RNA SNORA11 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1602751 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 41322845 LOC120099525 small nucleolar RNA SNORA11 gene DOID:12849 autistic disorder ISO RGD:1602751 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 41328737 Snord114-4 small nucleolar RNA, C/D box 114-4 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602520 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 41336355 LOC120094551 U6 spliceosomal RNA gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 41336355 LOC120094551 U6 spliceosomal RNA gene DOID:2717 Bloom syndrome ISO RGD:1343798 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 41336355 LOC120094551 U6 spliceosomal RNA gene DOID:9256 colorectal cancer ISO RGD:1343798 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 41345083 LOC120097670 small nucleolar RNA SNORA74 gene DOID:5419 schizophrenia ISO RGD:12738291 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 41348930 Snord113l3 small nucleolar RNA, C/D box 113 like 3 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602339 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 41349006 Snord45a small nucleolar RNA, C/D box 45A gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1342927 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 41355023 LOC120097377 beta-defensin 12 gene DOID:630 genetic disease ISO RGD:1344017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41366642 Scarna10 small Cajal body-specific RNA 10 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602538 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 41368180 Atp5mj-ps1 ATP synthase membrane subunit j, pseudogene 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 41368318 Set Set nuclear proto-oncogene gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 41368318 Set Set nuclear proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 41368318 Set Set nuclear proto-oncogene gene DOID:4441 dysgerminoma ISO RGD:1316679 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:26822237 41368318 Set Set nuclear proto-oncogene gene DOID:630 genetic disease ISO RGD:1316679 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 41368318 Set Set nuclear proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:1316679 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26822237 41368318 Set Set nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:7240710 20220323 OMIM 41368318 Set Set nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 41368318 Set Set nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:17576681|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:28492532|PMID:29688601|PMID:34008892|PMID:9536098 41368318 Set Set nuclear proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316679 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 41368318 Set Set nuclear proto-oncogene gene DOID:9005749 Necrosis ISO RGD:1316679 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 41368318 Set Set nuclear proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1316679 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 41373488 Snord30 small nucleolar RNA, C/D box 30 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 41373488 Snord30 small nucleolar RNA, C/D box 30 gene DOID:1059 intellectual disability ISO RGD:1349433 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Intellectual disability 41374908 Spaar small regulatory polypeptide of amino acid response gene DOID:0080942 anauxetic dysplasia ISO RGD:7246751 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1352721 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352721 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:1540 parathyroid carcinoma ISO RGD:1352721 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:5812 MHC class II deficiency ISO RGD:1352721 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:630 genetic disease ISO RGD:1352721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:9000217 Stomach Neoplasms ISO RGD:1352721 D RGD:11554173 20221221 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 41376513 LOC120100584 small proline-rich protein 2I-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352721 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 41378797 LOC120093383 small nucleolar RNA SNORD113/SNORD114 family gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602511 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 41393922 Ebln1 endogenous Bornavirus like nucleoprotein 1 gene DOID:630 genetic disease ISO RGD:5132975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41394010 Rpl37 ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:731374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 41394010 Rpl37 ribosomal protein L37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731374 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 4139858 Sh2b3em1Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:10763 hypertension IMP D RGD:13442483|PMID:25776069 20171103 RGD 4139858 Sh2b3em1Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:9001542 Albuminuria IMP D RGD:13442483|PMID:25776069 20171103 RGD 4139864 Sorcs1em1Mcwi sortilin-related VPS10 domain containing receptor 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:576 proteinuria IMP D RGD:12910977|PMID:23780848 20191003 RGD associated with hypertension 4139865 Rag1em1Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20201210 RGD as compare to o.4% NaCl diet 4139865 Rag1em1Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:9003234 Hypertensive Nephropathy ameliorates IMP D RGD:7207429|PMID:23364523 20170417 RGD 4139866 Rag1em2Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20201210 RGD 4139867 Rab38em1Mcwi RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:9001542 Albuminuria IAGP D RGD:13782139|PMID:23291471 20201210 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi 4139873 SS-Rag1em2Mcwi strain DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20130204 RGD 4139884 SS-Rag1em1Mcwi strain DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20130204 RGD as compare to o.4% NaCl diet 4139884 SS-Rag1em1Mcwi strain DOID:9003234 Hypertensive Nephropathy ameliorates IMP D RGD:7207429|PMID:23364523 20210201 RGD 4140405 LEXF6A/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200609 RGD 4140405 LEXF6A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 4140408 LEXF8C/Stm strain DOID:0080916 erythroleukemia induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 4140413 LEXF1B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 41404705 SD-Shank3em1Bux strain DOID:0080354 Phelan-McDermid syndrome IMP D RGD:41404704|PMID:28139198 20210204 RGD 41404706 Shank3em1Bux SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux gene DOID:0080354 Phelan-McDermid syndrome IMP D RGD:41404704|PMID:28139198 20210211 RGD 41404723 DA.W-Ncf1W/Rhd strain DOID:7148 rheumatoid arthritis severity IAGP XCO:0000263 D RGD:41404729|PMID:21275845 20210208 RGD DNA:polymorphism:M153T (rat) 41408751 CVCL_A1RG MC-1 [Rat fibrosarcoma] cell line DOID:3355 fibrosarcoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C60403 41409748 CVCL_A4FT CL-49VIII cell line DOID:684 hepatocellular carcinoma IEA D RGD:21410187 20210310 CELLOSAURUS NCI:C60416 41410881 WI-Grm2em1 strain DOID:9005632 Cocaine-Related Disorders IMP D RGD:38501064|PMID:28700935 20210217 RGD KO compared to wild-type rats 41410881 WI-Grm2em1 strain DOID:9976 heroin dependence IMP D RGD:38501063|PMID:30283001 20210217 RGD KO compared to wild-type rats 41410882 Grm2em1 glutamate metabotropic receptor 2; endonuclease induced mutant 1 gene DOID:9005632 Cocaine-Related Disorders IMP D RGD:38501064|PMID:28700935 20210225 RGD KO compared to wild-type rats 41410882 Grm2em1 glutamate metabotropic receptor 2; endonuclease induced mutant 1 gene DOID:9976 heroin dependence IMP D RGD:38501063|PMID:30283001 20210225 RGD KO compared to wild-type rats 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:1598972|PMID:17082646 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:41412176|PMID:20682698 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:6893459|PMID:19996157 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:7794858|PMID:23111281 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: treatment IAGP D RGD:1598972|PMID:17082646 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: treatment IAGP D RGD:41412176|PMID:20682698 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: treatment IAGP D RGD:6893459|PMID:19996157 20210219 RGD 41412170 BBDR/RhwMcwi strain DOID:9744 type 1 diabetes mellitus MODEL: treatment IAGP D RGD:7794858|PMID:23111281 20210219 RGD 4145117 Mcs27 Mammary carcinoma susceptibility QTL 27 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:4143380|PMID:20737482 20101026 RGD DMBA induced 4145118 Mcs26 Mammary carcinoma susceptibility QTL 26 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:4143380|PMID:20737482 20101026 RGD DMBA induced 4145119 Mcs25 Mammary carcinoma susceptibility QTL 25 qtl DOID:9006810 Drug-Related Side Effects and Adverse Reactions IDA D RGD:4143380|PMID:20737482 20121031 RGD 4145674 Iqub IQ motif and ubiquitin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606694 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 4145674 Iqub IQ motif and ubiquitin domain containing gene DOID:630 genetic disease ISO RGD:1606694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 42721974 LEW-Nek8lpk/Arc strain DOID:0111120 nephronophthisis 9 IAGP D RGD:40924667|PMID:22899815 20210302 RGD compared to control Lewis 42721975 Nek8lpkArc NIMA-related kinase 8; lpk mutant, Arc gene DOID:0111120 nephronophthisis 9 IAGP D RGD:40924667|PMID:22899815 20210304 RGD compared to control Lewis 42721977 SD-Pde6bem1Baek strain DOID:10584 retinitis pigmentosa IMP D RGD:40924664|PMID:31009522 20210303 RGD compared to wild-type 42721979 Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek gene DOID:10584 retinitis pigmentosa IMP D RGD:40924664|PMID:31009522 20210304 RGD compared to wild-type 45073130 SD-Fmr1em1Mzhe strain DOID:14261 fragile X syndrome IMP D RGD:38501107|PMID:28894415 20210329 RGD compared to SD control;DNA:deletion, SNP:exon 4: 4888536 Mir151b microRNA 151b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:5133856 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 4888543 Mir208b microRNA 208b gene DOID:0060439 lysinuric protein intolerance ISO RGD:2290220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 4888543 Mir208b microRNA 208b gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:2290220 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 4888543 Mir208b microRNA 208b gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2290220 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 4888543 Mir208b microRNA 208b gene DOID:9000265 Specific Granule Deficiency ISO RGD:2290220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 4888543 Mir208b microRNA 208b gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:2290220 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 4888546 Mir193a microRNA 193a gene DOID:10591 pre-eclampsia ISO RGD:1350382 D RGD:9068941 20230128 RGD miRNA:increased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 4888546 Mir193a microRNA 193a gene DOID:11294 arteriovenous malformation ISO RGD:1350382 D RGD:155582214|PMID:23051042 20221013 RGD miRNA:decreased expression:blood plasma (human) 4888546 Mir193a microRNA 193a gene DOID:1312 focal segmental glomerulosclerosis ISS RGD:1608303 D RGD:13592920 20190214 MouseDO OMIM:607832 | OMIM:612551 4888546 Mir193a microRNA 193a gene DOID:1324 lung cancer ISO RGD:1350382 D RGD:153344606|PMID:27669434 20220830 RGD DNA:hypermethylation 4888546 Mir193a microRNA 193a gene DOID:1324 lung cancer ameliorates ISO RGD:1350382 D RGD:153344578|PMID:27821145 20220829 RGD human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:1324 lung cancer ameliorates ISO RGD:1350382 D RGD:153344580|PMID:29183007 20220829 RGD human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:1324 lung cancer treatment ISO RGD:1608303 D RGD:153344587|PMID:35289739 20220829 RGD 4888546 Mir193a microRNA 193a gene DOID:1969 cerebral palsy ISO RGD:1350382 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 4888546 Mir193a microRNA 193a gene DOID:219 colon cancer ameliorates ISO RGD:1350382 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:219 colon cancer exacerbates ISO RGD:1350382 D RGD:153344588|PMID:30575330 20220829 RGD human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1350382 D RGD:153323341|PMID:27203740 20220817 RGD miRNA:decreased expression:esophagus (human) 4888546 Mir193a microRNA 193a gene DOID:3770 pulmonary fibrosis ISO RGD:1350382 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:30744607 4888546 Mir193a microRNA 193a gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1350382 D RGD:153344598|PMID:22282464 20220830 RGD DNA:Hypermethylation 4888546 Mir193a microRNA 193a gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350382 D RGD:11085320|PMID:26655272 20220829 RGD miRNA:decreased expression:lung (human) 4888546 Mir193a microRNA 193a gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1350382 D RGD:153344584|PMID:31205511 20220829 RGD human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:5082 liver cirrhosis ISO RGD:1350382 D RGD:9068941 20220826 RGD associated with hepatocellular carcinoma; RNA:decreased expression:liver (human) PMID:24330766|REF_RGD_ID:153344567 4888546 Mir193a microRNA 193a gene DOID:684 hepatocellular carcinoma ISO RGD:1350382 D RGD:153344549|PMID:30710422 20220824 RGD RNA:decreased expression:liver (human) 4888546 Mir193a microRNA 193a gene DOID:684 hepatocellular carcinoma ISO RGD:1350382 D RGD:153344564|PMID:28036298 20220825 RGD DNA:hypomethylation 4888546 Mir193a microRNA 193a gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350382 D RGD:11070076|PMID:26263159 20220823 RGD miRNA:decreased expression:liver (human) 4888546 Mir193a microRNA 193a gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1350382 D RGD:153344563|PMID:32960907 20220825 RGD RNA:increased expression:blood serum (human) 4888546 Mir193a microRNA 193a gene DOID:687 hepatoblastoma exacerbates ISO RGD:1350382 D RGD:9068941 20220825 RGD RNA:decreased expression:liver (human) PMID:31541079|REF_RGD_ID:153344539 4888546 Mir193a microRNA 193a gene DOID:7474 malignant pleural mesothelioma ISO RGD:1350382 D RGD:11529530|PMID:26125439 20220830 RGD miRNA:decreased expression:pleura (human) 4888546 Mir193a microRNA 193a gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1350382 D RGD:153344592|PMID:24469061 20220830 RGD associated with lung non-small cell carcinoma; human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1350382 D RGD:153344599|PMID:30685413 20220830 RGD associated with lung non-small cell carcinoma; human cells in mouse model 4888546 Mir193a microRNA 193a gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1608303 D RGD:153323340|PMID:30165047 20220817 RGD miRNA:decreased expression:liver (mouse) 4888546 Mir193a microRNA 193a gene DOID:9005172 Lung Neoplasms ISO RGD:1350382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 4888546 Mir193a microRNA 193a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350382 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 4888546 Mir193a microRNA 193a gene DOID:9007787 Carcinoid Tumor ISO RGD:1350382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 4888546 Mir193a microRNA 193a gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 4888546 Mir193a microRNA 193a gene DOID:9008086 Developmental Disabilities ISO RGD:1350382 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 4888546 Mir193a microRNA 193a gene DOID:9256 colorectal cancer ISO RGD:1350382 D RGD:9068941 20220721 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 4888546 Mir193a microRNA 193a gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350382 D RGD:153344558|PMID:23758639 20220825 RGD RNA:increased expression:colorectum, blood (human) 4888546 Mir193a microRNA 193a gene DOID:9256 colorectal cancer treatment ISO RGD:1350382 D RGD:153344551|PMID:34299137 20220825 RGD human cells in mouse model 4888547 Mir449c microRNA 449c gene DOID:9452 fatty liver disease ISO RGD:3476300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363424 4888566 Mir3120 microRNA 3120 gene DOID:1540 parathyroid carcinoma ISO RGD:4109026 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 4888566 Mir3120 microRNA 3120 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:4109026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 4888566 Mir3120 microRNA 3120 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:4109026 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 4888566 Mir3120 microRNA 3120 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:4109026 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 4888573 Mir1249 microRNA 1249 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2312970 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 4888573 Mir1249 microRNA 1249 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2312970 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 4888573 Mir1249 microRNA 1249 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312970 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 4888575 Mir2964 microRNA 2964 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:5134098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 4888575 Mir2964 microRNA 2964 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:5134098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 4888575 Mir2964 microRNA 2964 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:5134098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 4888578 Mir3585 microRNA 3585 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2974685 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 4888578 Mir3585 microRNA 3585 gene DOID:12849 autistic disorder ISO RGD:2974685 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 4888581 Mir3582 microRNA 3582 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 4888581 Mir3582 microRNA 3582 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1343982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 4888581 Mir3582 microRNA 3582 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 4888581 Mir3582 microRNA 3582 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343982 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 4888581 Mir3582 microRNA 3582 gene DOID:6000 congestive heart failure ISO RGD:1343982 D RGD:11554173 20211221 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 4888581 Mir3582 microRNA 3582 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1607569 D RGD:11554173 20211221 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 4888584 Mir1912 microRNA 1912 gene DOID:12849 autistic disorder ISO RGD:2312975 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 4888584 Mir1912 microRNA 1912 gene DOID:5419 schizophrenia ISO RGD:2312975 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 4888592 Mir216b microRNA 216b gene DOID:4989 pancreatitis ISO RGD:2290236 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 4888593 Mir3581 microRNA 3581 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1601673 D RGD:8554872 20190122 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 4888593 Mir3581 microRNA 3581 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1601673 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 4888593 Mir3581 microRNA 3581 gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1603786 D RGD:10755694|PMID:23360331 20160203 RGD 4888595 Mir126a microRNA 126a gene DOID:10283 prostate cancer ISO RGD:1348236 D RGD:11561757|PMID:26677064 20180219 RGD RNA:decreased expression:prostate gland 4888595 Mir126a microRNA 126a gene DOID:219 colon cancer disease_progression ISO RGD:1608344 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) 4888603 Mir299b microRNA 299b gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1345678 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 4888603 Mir299b microRNA 299b gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1345678 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 4888607 Mirlet7f-1 microRNA let7f-1 gene DOID:12642 hiatus hernia ISO RGD:1350549 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hiatus hernia 4888612 Mir3545 microRNA 3545 gene DOID:5082 liver cirrhosis ISO RGD:1608292 D RGD:11554173 20201012 CTD CTD Direct Evidence: therapeutic PMID:32659284 4888612 Mir3545 microRNA 3545 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608292 D RGD:11554173 20201012 CTD CTD Direct Evidence: therapeutic PMID:32659284 4888616 Mir182 microRNA 182 gene DOID:768 retinoblastoma IEP D RGD:15092072|PMID:30320366 20200102 RGD miRNA:increased expression:retina 4888616 Mir182 microRNA 182 gene DOID:768 retinoblastoma treatment IMP D RGD:15092072|PMID:30320366 20200102 RGD 4888616 Mir182 microRNA 182 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:38599216|PMID:29323718 20220602 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) 4889414 WKY.SHRSP-(D1Rat171-D1Wox33)/Izm strain DOID:10763 hypertension induced IAGP XCO:0000307|XCO:0000158 D RGD:4889147|PMID:21063213 20101202 RGD compared to WKY/Izm under cold and restraint stress 4889419 Cstrr2 Cold stress response QTL 2 qtl DOID:10763 hypertension IDA D RGD:4889147|PMID:21063213 20101202 RGD 4889419 Cstrr2 Cold stress response QTL 2 qtl DOID:11465 autonomic nervous system disease IDA D RGD:4889147|PMID:21063213 20101202 RGD 4889428 Stresp24 Stress response QTL 24 qtl DOID:10763 hypertension IDA D RGD:4889147|PMID:21063213 20101202 RGD 4889428 Stresp24 Stress response QTL 24 qtl DOID:11465 autonomic nervous system disease IDA D RGD:4889147|PMID:21063213 20101202 RGD 4889450 DA.PVG.1AV1-(D1Rat248-D1Rat10)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195 D RGD:4888518|PMID:21041731 20200505 RGD 4889451 Eae29 Experimental allergic encephalomyelitis QTL 29 qtl DOID:2377 multiple sclerosis IAGP D RGD:4888518|PMID:21041731 20101202 RGD 4889451 Eae29 Experimental allergic encephalomyelitis QTL 29 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:4888518|PMID:21041731 20101202 RGD 4889464 GK/Ox strain DOID:4195 hyperglycemia IAGP D RGD:4889455|PMID:20878524 20101202 RGD 4889464 GK/Ox strain DOID:9007692 Insulin Resistance IAGP D RGD:4889455|PMID:20878524 20101203 RGD compared to BN/Crl 4889464 GK/Ox strain DOID:9352 type 2 diabetes mellitus MODEL IAGP D RGD:4889455|PMID:20878524 20101202 RGD compared to BN/Crl 4889492 Pancm2 Pancreatic morphology QTL 2 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:4889455|PMID:20878524 20101203 RGD 4889494 Scort2 Serum corticosterone level QTL 2 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:4889455|PMID:20878524 20101203 RGD 4889511 Gluco61 Glucose level QTL 61 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:2326163|PMID:20530722 20101203 RGD 4889521 Gluco62 Glucose level QTL 62 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:2326163|PMID:20530722 20101207 RGD 4889606 Gluco63 Glucose level QTL 63 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:2326163|PMID:20530722 20101207 RGD 4889610 Pancm3 Pancreatic morphology QTL 3 qtl DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:2326163|PMID:20530722 20101207 RGD 4889834 Pur24 Proteinuria QTL 24 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889848 Pur25 Proteinuria QTL 25 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889852 Pur26 Proteinuria QTL 26 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889857 Pur27 Proteinuria QTL 27 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889859 Pur28 Proteinuria QTL 28 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889861 Pur29 Proteinuria QTL 29 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889870 Pur30 Proteinuria QTL 30 qtl DOID:576 proteinuria IAGP D RGD:4889613|PMID:20876844 20101209 RGD 4889879 SBH-Chr XSBN/Ygl strain DOID:576 proteinuria induced IAGP XCO:0000112 D RGD:4889613|PMID:20876844 20101209 RGD same as SBH/Ygl 4889890 DA.PVG.1AV1-(D17Rat8-D17Rat37)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: control IAGP XCO:0000195 D RGD:4889889|PMID:20856809 20101209 RGD compared to DA/ZtmKini 4889891 Eae32 Experimental allergic encephalomyelitis QTL 32 qtl DOID:2377 multiple sclerosis IAGP D RGD:4889889|PMID:20856809 20101209 RGD 4889891 Eae32 Experimental allergic encephalomyelitis QTL 32 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance IDA D RGD:4889889|PMID:20856809 20101209 RGD 4889894 Eae33 Experimental allergic encephalomyelitis QTL 33 qtl DOID:2377 multiple sclerosis IAGP D RGD:4889889|PMID:20856809 20101209 RGD 4889894 Eae33 Experimental allergic encephalomyelitis QTL 33 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance IDA D RGD:4889889|PMID:20856809 20101209 RGD 4889919 Bss86 Bone structure and strength QTL 86 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889929 Bss87 Bone structure and strength QTL 87 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889933 Bss88 Bone structure and strength QTL 88 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889938 Bss89 Bone structure and strength QTL 89 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889943 Bss90 Bone structure and strength QTL 90 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889948 Bss91 Bone structure and strength QTL 91 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889951 Bss92 Bone structure and strength QTL 92 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889955 Bss93 Bone structure and strength QTL 93 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889962 Bss94 Bone structure and strength QTL 94 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889966 Bss95 Bone structure and strength QTL 95 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889969 Bss96 Bone structure and strength QTL 96 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889972 Bss97 Bone structure and strength QTL 97 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4889975 Bmd81 Bone mineral density QTL 81 qtl DOID:11476 osteoporosis IAGP D RGD:4889918|PMID:20699128 20101210 RGD 4891165 Wig/Ymas wiggling strain DOID:1094 attention deficit hyperactivity disorder MODEL IAGP D RGD:4891167|PMID:17610585 20110111 RGD 4891383 SS.SR-(D9Mco98-Resp18)/1Mco strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:4889902|PMID:20716646 20110112 RGD 4891386 SS.SR-(D9Mco98-Resp18)/2Mco strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:4889902|PMID:20716646 20110112 RGD 4892133 Ankhd1 ankyrin repeat and KH domain containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606539 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 4892133 Ankhd1 ankyrin repeat and KH domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 4892133 Ankhd1 ankyrin repeat and KH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 4892133 Ankhd1 ankyrin repeat and KH domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606539 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 4892133 Ankhd1 ankyrin repeat and KH domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 4892563 WF.WKY-(D5Rat26-D5Uwm42)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:631852|PMID:12844486 20200304 RGD 5128728 Cenps centromere protein S gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 5128728 Cenps centromere protein S gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 5128728 Cenps centromere protein S gene DOID:0111936 immunodeficiency 14 ISO RGD:1602808 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 5131094 BN-Lx/CubPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131101 BXH10/CubPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131113 HXB31/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131115 HXB29/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131124 HXB23/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131128 HXB17/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131130 HXB15/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131134 HXB10/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131140 HXB3/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131142 HXB2/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131144 HXB18/IpcvPrin strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 5131919 Cdh13em1Mcwi cadherin 13; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:303 substance-related disorder IMP D RGD:13503340|PMID:28387990 20201210 RGD knock-out compared to wild-type rats 5131922 SS-Cdh13em1Mcwi strain DOID:303 substance-related disorder IMP D RGD:13503340|PMID:28387990 20200814 RGD knock-out compared to wild-type rats 5134683 WF.WKY-(D7Rat171-D7Rat128)/1Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20200318 RGD 5134685 WF.WKY-(D7Rat171-D7Rat128)/2Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20200318 RGD 5134687 WF.WKY-(D7Rat51-D7Rat128)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20110705 RGD 5134689 WF.WKY-(D7Uwm25-D7Rat128)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20110705 RGD 5134692 WF.WKY-(D7Rat171-D7Rat45)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20200318 RGD 5134951 WF.COP-(D7Rat39-D7Uwm12)/1Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20200318 RGD 5134953 WF.COP-(D7Rat39-D7Uwm12)/2Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20200318 RGD 5135224 Leukc1 Leukocyte quantity QTL 1 qtl DOID:9001371 Eosinophilia IAGP D RGD:5135221|PMID:16151696 20110713 RGD 5135226 Leukc2 Leukocyte quantity QTL 2 qtl DOID:9001371 Eosinophilia IAGP D RGD:5135221|PMID:16151696 20110713 RGD 5135472 ACI.BN-(D5Uwm70-D5Rat32)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5135475 ACI.BN-(D5Rat60-D5Rat115)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5135477 ACI.BN-(D5Uwm70-D5Mgh15)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5135479 ACI.BN-(D5Rat113-D5Rat36)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5135481 ACI.BN-(D5Mgh17-D5Rat98)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5143979 Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin gene DOID:0050851 glomerulosclerosis IMP D RGD:11079199|PMID:25136115 20171102 RGD 5143979 Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin gene DOID:0050851 glomerulosclerosis ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20220203 RGD compared to wild type 5143979 Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin gene DOID:10763 hypertension ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20171102 RGD 5143979 Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin gene DOID:9003139 Cardiac Fibrosis IMP D RGD:11079199|PMID:25136115 20171102 RGD 5143979 Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin gene DOID:9003139 Cardiac Fibrosis ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20220203 RGD compared to wild type 5144089 Ncf2em1Mcwi neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:0050855 renal fibrosis IMP D RGD:9587793|PMID:22326221 20171101 RGD 5144089 Ncf2em1Mcwi neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:576 proteinuria IMP D RGD:9587793|PMID:22326221 20171101 RGD 5144104 SS-Ncf2em1Mcwi strain DOID:0050855 renal fibrosis IMP D RGD:9587793|PMID:22326221 20171101 RGD 5144104 SS-Ncf2em1Mcwi strain DOID:576 proteinuria IMP D RGD:9587793|PMID:22326221 20171101 RGD 5144110 ACI.BN-(D5Mgh17-D5Mgh15)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5147594 FHH.PCK-(D9Rat35-D9Rat70)/Mcwi strain DOID:576 proteinuria IAGP D RGD:12910103|PMID:24722447 20191206 RGD compared to Crl:SD, compared to FHH 5147594 FHH.PCK-(D9Rat35-D9Rat70)/Mcwi strain DOID:898 autosomal dominant polycystic kidney disease MODEL: control IAGP D RGD:9685714|PMID:22669842 20150122 RGD as compared to PCK/CrljCrl-Pkhd1pck/Crl 5508304 WUN-Abcc2TR-/HsdRrrc strain DOID:12308 Dubin-Johnson syndrome MODEL: spontaneous IAGP D RGD:69812|PMID:8599091 20190802 RGD 5508324 Nppbem2Mcwi natriuretic peptide B; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:9003234 Hypertensive Nephropathy IMP D RGD:12910116|PMID:26063669 20201210 RGD 5508828 Leukc3 Leukocyte quantity QTL 3 qtl DOID:9001371 Eosinophilia IAGP D RGD:5135222|PMID:17090969 20111025 RGD 5509086 ACI.BN-(D5Rat72-D5Rat36)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5509087 ACI.BN-(D5Rat113-D5Rat159)/Shul strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 5509982 Sh2b3em2Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:12904914|PMID:25628389 20170526 RGD 5683890 SS-Chr 12BN.SS-(D12Hmgc3-D12Hmgc6)/Mcwi strain DOID:0050851 glomerulosclerosis IAGP XCO:0000022 D RGD:7204442|PMID:22868394 20121218 RGD compared to SS-Chr 12BN/Mcwi 5683890 SS-Chr 12BN.SS-(D12Hmgc3-D12Hmgc6)/Mcwi strain DOID:10763 hypertension IAGP D RGD:7204442|PMID:22868394 20200219 RGD 5683890 SS-Chr 12BN.SS-(D12Hmgc3-D12Hmgc6)/Mcwi strain DOID:10763 hypertension MODEL: induced IAGP D RGD:8693701|PMID:25001272 20140724 RGD 8% NaCl diet; compared to SS-Chr12BN 5683890 SS-Chr 12BN.SS-(D12Hmgc3-D12Hmgc6)/Mcwi strain DOID:9001542 Albuminuria IAGP D RGD:7204442|PMID:22868394 20121218 RGD 5683890 SS-Chr 12BN.SS-(D12Hmgc3-D12Hmgc6)/Mcwi strain DOID:9003936 Cardiomegaly IAGP D RGD:7204442|PMID:22868394 20200317 RGD compared to SS-Chr 12BN/Mcwi 5684888 Pia42 Pristane induced arthritis QTL 42 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1600250|PMID:17329308 20120104 RGD 5684946 Bss98 Bone structure and strength QTL 98 qtl DOID:13533 osteopetrosis IAGP D RGD:5684953|PMID:21818327 20120105 RGD 5684963 Bss99 Bone structure and strength QTL 99 qtl DOID:13533 osteopetrosis IAGP D RGD:5684953|PMID:21818327 20120105 RGD 5684973 Bss100 Bone structure and strength QTL 100 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5684990 Bmd82 Bone mineral density QTL 82 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5684992 Bmd83 Bone mineral density QTL 82 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5684993 Bmd84 Bone mineral density QTL 84 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5684996 Bmd85 Bone mineral density QTL 85 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5684998 Bss101 Bone structure and strength QTL 101 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5684999 Bss102 Bone structure and strength QTL 102 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5685002 Bss103 Bone structure and strength QTL 103 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5685004 Bss104 Bone structure and strength QTL 104 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5685009 Bmd86 Bone mineral density QTL 86 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5685012 Bmd87 Bone mineral density QTL 87 qtl DOID:11476 osteoporosis IAGP D RGD:5684953|PMID:21818327 20120106 RGD 5686318 SS-Sh2b3em1Mcwi-/- SS-Sh2b3em1Mcwi-/Sh2b3em1Mcwi- strain DOID:10763 hypertension IMP D RGD:13442483|PMID:25776069 20171103 RGD 5686318 SS-Sh2b3em1Mcwi-/- SS-Sh2b3em1Mcwi-/Sh2b3em1Mcwi- strain DOID:9001542 Albuminuria IMP D RGD:13442483|PMID:25776069 20171103 RGD 5686668 SS-Cdh13em1Mcwi-/- SS-Cdh13em1Mcwi-/Cdh13em1Mcwi- strain DOID:303 substance-related disorder IMP D RGD:13503340|PMID:28387990 20200819 RGD 5686730 SS-Nppbem2Mcwi-/- SS-Nppbem2Mcwi-/Nppbem2Mcwi- strain DOID:9003234 Hypertensive Nephropathy MODEL: age-related IMP D RGD:12910116|PMID:26063669 20191021 RGD 5686758 SS-Plekha7em4Mcwi-/- SS-Plekha7em4Mcwi-/Plekha7em4Mcwi- strain DOID:0050851 glomerulosclerosis ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20171102 RGD compared to wild type 5686758 SS-Plekha7em4Mcwi-/- SS-Plekha7em4Mcwi-/Plekha7em4Mcwi- strain DOID:10763 hypertension ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20171102 RGD compared to wild type 5686758 SS-Plekha7em4Mcwi-/- SS-Plekha7em4Mcwi-/Plekha7em4Mcwi- strain DOID:9003139 Cardiac Fibrosis ameliorates IMP XCO:0000795 D RGD:11079199|PMID:25136115 20171102 RGD compared to wild type 5686766 SS-Sh2b3em2Mcwi-/- SS-Sh2b3em2Mcwi-/Sh2b3em2Mcwi- strain DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:12904914|PMID:25628389 20170526 RGD 5686826 ACI.FHH-(D1Mit18-D1Rat90)(D3Rat84-D3Rat59)(D14Mit11-D14Rat33)(D14Rat65-D14Rat90)/Eur strain DOID:9001542 Albuminuria induced IAGP XCO:0000113 D RGD:5684423|PMID:21127141 20120127 RGD 5686832 ACI.FHH-(D1Mit18-D1Rat90)(D3Got102-D3Got149)(D14Mit11-D14Rat33)(D14Rat65-D14Rat90)/Mcwi strain DOID:9001542 Albuminuria induced IAGP XCO:0000113 D RGD:5684423|PMID:21127141 20120127 RGD 5686842 Rf59 Renal function QTL 59 qtl DOID:9001542 Albuminuria IAGP D RGD:5684423|PMID:21127141 20120127 RGD 5687331 Rn5-8s 5.8S ribosomal RNA gene DOID:0080600 COVID-19 ISO RGD:12907523 D RGD:9068941 20220602 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 5687705 Resp18em2Mcwi regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:0050855 renal fibrosis IMP D RGD:14348960|PMID:29570433 20190201 RGD 5687705 Resp18em2Mcwi regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:10763 hypertension IMP D RGD:14348960|PMID:29570433 20190201 RGD 5687721 Nr2f2em1Mcwi nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:10763 hypertension IMP D RGD:10401852|PMID:25687237 20171102 RGD 5688087 FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi-Rab38em1Mcwi-/- FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi-Rab38em1Mcwi-/Rab38em1Mcwi- strain DOID:9001542 Albuminuria IAGP D RGD:13782139|PMID:23291471 20191212 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi 5688092 SS-Rag1em1Mcwi-/- SS-Rag1em1Mcwi-/Rag1em1Mcwi- strain DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20181011 RGD 5688096 SS-Rag1em2Mcwi-/- SS-Rag1em2Mcwi-/Rag1em2Mcwi- strain DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20181011 RGD 5688107 FHH-Chr 1BN-Sorcs1em1Mcwi-/- FHH-Chr 1BN-Sorcs1em1Mcwi-/Sorcs1em1Mcwi- strain DOID:576 proteinuria IMP D RGD:12910977|PMID:23780848 20191003 RGD associated with hypertension 5688119 SS-Tgfb1em3Mcwi+/- SS-Tgfb1em3Mcwi+/Tgfb1em3Mcwi- strain DOID:0050851 glomerulosclerosis ameliorates IMP XCO:0000795 D RGD:13446413|PMID:23249995 20210824 RGD Compared with wild type littermates SS-Tgfb1em3Mcwi+/+ 5688119 SS-Tgfb1em3Mcwi+/- SS-Tgfb1em3Mcwi+/Tgfb1em3Mcwi- strain DOID:576 proteinuria ameliorates IMP XCO:0000795 D RGD:13446413|PMID:23249995 20171114 RGD Compared with wild type littermates SS-Tgfb1em3Mcwi+/+ 5688119 SS-Tgfb1em3Mcwi+/- SS-Tgfb1em3Mcwi+/Tgfb1em3Mcwi- strain DOID:9004303 Tubulointerstitial Fibrosis ameliorates IMP XCO:0000795 D RGD:13446413|PMID:23249995 20171114 RGD Compared with wild type littermates SS-Tgfb1em3Mcwi+/+ 60985 BN BN strain DOID:7693 abdominal aortic aneurysm induced IAGP XCO:0000246|XCO:0000025 D RGD:1302825|PMID:15238617 20201001 RGD 60988 LOU/M strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP D RGD:125097498|PMID:1702803 20210401 RGD 60988 LOU/M strain DOID:9002869 Schistosomiasis Mansoni MODEL: treatment IAGP D RGD:125097509|PMID:3108390 20210402 RGD 60988 LOU/M strain DOID:9002869 Schistosomiasis Mansoni MODEL:treatment IAGP D RGD:39456083|PMID:1719096 20201007 RGD 60994 F344 Fischer strain DOID:9970 obesity MODEL: control IAGP D RGD:24922212|PMID:15879056 20200330 RGD compared to FDIO/Rrrc 60994 F344 Fischer strain DOID:9970 obesity MODEL: control IAGP D RGD:6482246|PMID:12855420 20200330 RGD compared to FDIO/Rrrc 60995 DRY strain DOID:10763 hypertension MODEL: control IAGP D RGD:61484|PMID:9495256 20200326 RGD compared to SHR/N strain 60997 DA DA strain DOID:0080158 herpes simplex virus keratitis penetrance IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to PVG rat strain; HSV-1 McKrae virus strain 60997 DA DA strain DOID:10124 corneal disease penetrance IAGP D RGD:40903004|PMID:8045717 20201222 RGD associated with herpes simplex virus; compared to PVG rat strain 60997 DA DA strain DOID:13141 uveitis penetrance IAGP D RGD:40903004|PMID:8045717 20201222 RGD associated with herpes simplex virus; compared to PVG rat strain 60997 DA DA strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP D RGD:41404729|PMID:21275845 20210208 RGD 60997 DA DA strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP D RGD:628543|PMID:12461526 20220531 RGD 60997 DA DA strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000263 D RGD:61088|PMID:8909256 20191105 RGD E3 60997 DA DA strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000280 D RGD:62404|PMID:11230175 20201116 RGD 60997 DA DA strain DOID:7148 rheumatoid arthritis treatment IAGP D RGD:628543|PMID:12461526 20220531 RGD 60997 DA DA strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000263 D RGD:61088|PMID:8909256 20200720 RGD 60997 DA DA strain DOID:9003870 Herpes Simplex Encephalitis penetrance IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to PVG rat strain; HSV-1 McKrae virus strain 60999 LEW Lewis strain DOID:0080158 herpes simplex virus keratitis susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to PVG rat strain; HSV-1 McKrae virus strain 60999 LEW Lewis strain DOID:10124 corneal disease susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD associated with herpes simplex virus; compared to PVG rat strain 60999 LEW Lewis strain DOID:10763 hypertension MODEL: control IAGP D RGD:704345|PMID:12939233 20201022 RGD compared to Dahl SS and congenics 60999 LEW Lewis strain DOID:13141 uveitis susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD associated with herpes simplex virus; compared to PVG rat strain 60999 LEW Lewis strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000263 D RGD:61088|PMID:8909256 20200720 RGD 60999 LEW Lewis strain DOID:9003870 Herpes Simplex Encephalitis susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to PVG rat strain; HSV-1 McKrae virus strain 61000 SHR Spontaneously Hypertensive Rat strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared with WKY 61000 SHR Spontaneously Hypertensive Rat strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2316962|PMID:16928787 20191202 RGD compared with WKY 61000 SHR Spontaneously Hypertensive Rat strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61051|PMID:9774356 20200227 RGD compared to WKY strain 61000 SHR Spontaneously Hypertensive Rat strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared with WKY 61000 SHR Spontaneously Hypertensive Rat strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:2316962|PMID:16928787 20191202 RGD compared with WKY 61000 SHR Spontaneously Hypertensive Rat strain DOID:9352 type 2 diabetes mellitus MODEL: control IAGP D RGD:1354689|PMID:14643580 20200129 RGD compared to CRDH strain 61002 BDIX strain DOID:0060108 brain glioma induced IMP D RGD:40903015|PMID:10766347 20201223 RGD BT4C rat glioma cell line 61002 BDIX strain DOID:0060108 brain glioma treatment IMP D RGD:40903015|PMID:10766347 20201223 RGD herpes simplex virus thymidine kinase gene transfer with ganciclovir 61006 PVG PVG strain DOID:10124 corneal disease severity IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to Lewis, AO, DA rat strains; HSV-1 McKrae virus strain 61006 PVG PVG strain DOID:9003870 Herpes Simplex Encephalitis severity IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to Lewis, AO, DA rat strains; HSV-1 McKrae virus strain 61007 WF Wistar Furth strain DOID:0080641 tongue carcinoma induced IAGP XCO:0000351 D RGD:61091|PMID:9563479 20200319 RGD 61010 SHRSP Spontaneously Hypertensive Rat, Stroke Prone strain DOID:10763 hypertension treatment IAGP XCO:0000382 D RGD:12904885|PMID:2941600 20191216 RGD 61010 SHRSP Spontaneously Hypertensive Rat, Stroke Prone strain DOID:9007096 Stroke IAGP D RGD:61093|PMID:8696337 20201027 RGD 61013 E3 strain DOID:7148 rheumatoid arthritis MODEL: control IAGP XCO:0000263 D RGD:61088|PMID:8909256 19990101 RGD DA 61013 E3 strain DOID:7148 rheumatoid arthritis MODEL: control IAGP XCO:0000263 D RGD:629561|PMID:11817600 20191122 RGD compared to inducible strain DA/ZtmRhd 61013 E3 strain DOID:7148 rheumatoid arthritis MODEL: control IAGP XCO:0000263 D RGD:631225|PMID:12111642 20191122 RGD compared to inducible strain LEW.1F 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9002165 Diabetic Nephropathies treatment IAGP XCO:0000537 D RGD:12879452|PMID:12477969 20191106 RGD 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9007692 Insulin Resistance MODEL: spontaneous IAGP D RGD:21408558|PMID:31675433 20200313 RGD compared to LETO rats 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9007692 Insulin Resistance MODEL: treatment IAGP XCO:0000602 D RGD:21406435|PMID:30225267 20200313 RGD compared to LETO rats 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:61072|PMID:9585427 20191105 RGD BN,F344/NRrrc; 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9452 fatty liver disease MODEL: spontaneous IAGP D RGD:21408559|PMID:22863080 20200313 RGD compared to LETO rats 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9452 fatty liver disease MODEL: treatment IAGP XCO:0000602 D RGD:21406435|PMID:30225267 20200313 RGD compared to LETO rats 61014 OLETF Otsuka Long-Evans Tokushima fatty strain DOID:9970 obesity MODEL: treatment IAGP XCO:0000602 D RGD:21406435|PMID:30225267 20200313 RGD compared to LETO rats 61096 SHR/NCruk Spontaneously Hypertensive Rat strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1625015|PMID:17332427 20200128 RGD compared to SHR.WKY-(D1Rat420-D1Got161)/Njs strain 61096 SHR/NCruk Spontaneously Hypertensive Rat strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:70855|PMID:11509479 20200102 RGD compared to WKY/NCruk strain 61097 WKY/NCruk strain DOID:10763 hypertension MODEL: control IAGP D RGD:70855|PMID:11509479 20200128 RGD compared to SHR/NCruk strain 61097 WKY/NCruk strain DOID:9004616 Left Ventricular Hypertrophy IAGP XCO:0000010 D RGD:69699|PMID:11157698 19990101 RGD compared to WKY/NCruk in normal air and hypoxic F344/NHsd 61097 WKY/NCruk strain DOID:9006102 Right Ventricular Hypertrophy IAGP XCO:0000010 D RGD:69699|PMID:11157698 19990101 RGD compared to WKY/NCruk in normal air and hypoxic F344/NHsd 61100 SHR/Ola strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:628911|PMID:2708818 20200121 RGD compared to BN-Lx/Cub strain 61100 SHR/Ola strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:632218|PMID:10454439 20200109 RGD compared to SHR.BN-(D1Mit3-Igf2)/Ipcv strain 61103 WKY strain DOID:10763 hypertension MODEL: control IAGP D RGD:13513906|PMID:16882881 20200227 RGD compared to SHR strain 61103 WKY strain DOID:10763 hypertension MODEL: control IAGP D RGD:1354689|PMID:14643580 20200129 RGD compared to CRDH strain 61103 WKY strain DOID:10763 hypertension MODEL: control IAGP D RGD:61051|PMID:9774356 20200227 RGD compared to SHR strain 61103 WKY strain DOID:8725 vascular dementia MODEL: control IAGP D RGD:1556766|PMID:8610323 20200130 RGD compared to SHRSP/Ezo 61103 WKY strain DOID:8725 vascular dementia MODEL: control IAGP D RGD:18936992|PMID:9072380 20200130 RGD compared to SHRSP/Ezo 61103 WKY strain DOID:9004616 Left Ventricular Hypertrophy MODEL: control IAGP D RGD:13513906|PMID:16882881 20200228 RGD compared to SHR strain 61104 LEW/NCrl strain DOID:10763 hypertension MODEL: control IAGP XCO:0000022 D RGD:61040|PMID:9685318 20081126 RGD compared to SS/Jr 61105 WKY/NHsd strain DOID:3459 breast carcinoma MODEL: control IAGP XCO:0000090 D RGD:62417|PMID:11139513 20191022 RGD as compared to WF/NHsd 61107 BB/OK BioBreeding rat strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:619684|PMID:9329742 20200302 RGD 50% type 1 diabetes incidence; sexual dimorphism 61107 BB/OK BioBreeding rat strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:619685|PMID:11327715 20200206 RGD compared to SHR/Mol, BB.SHR-(D6Rat184-D6Rat3)/K, BB.SHR-(Gnal-D18Mit9)/K 61107 BB/OK BioBreeding rat strain DOID:9744 type 1 diabetes mellitus penetrance IAGP D RGD:9588274|PMID:15619288 20200302 RGD 61107 BB/OK BioBreeding rat strain DOID:9744 type 1 diabetes mellitus treatment IAGP D RGD:21081680|PMID:21523881 20200302 RGD 61109 F344/NHsd F344/NHsd strain DOID:13141 uveitis resistance IAGP D RGD:2293749|PMID:18281616 20080612 RGD as compared to LEW/SsNHsd 61109 F344/NHsd F344/NHsd strain DOID:3829 pituitary adenoma induced IAGP XCO:0000295 D RGD:1581610|PMID:16416090 20200313 RGD 61109 F344/NHsd F344/NHsd strain DOID:3829 pituitary adenoma penetrance IAGP XCO:0000295 D RGD:1300042|PMID:15166088 20200313 RGD 61109 F344/NHsd F344/NHsd strain DOID:684 hepatocellular carcinoma induced IAGP XCO:0000210,XCO:0000442,XCO:0000206 D RGD:619598|PMID:10493520 19990101 RGD 61109 F344/NHsd F344/NHsd strain DOID:7148 rheumatoid arthritis MODEL: control IAGP XCO:0000281 D RGD:629569|PMID:12209529 20200730 RGD compared to DA/BklArbN 61109 F344/NHsd F344/NHsd strain DOID:9004538 Hearing Loss onset IAGP D RGD:2293526|PMID:18508213 20080603 RGD 61109 F344/NHsd F344/NHsd strain DOID:9006102 Right Ventricular Hypertrophy induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 61109 F344/NHsd F344/NHsd strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD 61109 F344/NHsd F344/NHsd strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IAGP D RGD:69699|PMID:11157698 20151014 RGD compared to WKY/Cruk 61110 SHR/Mol strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 61111 DA/Slc dark agouti strain DOID:0080641 tongue carcinoma induced IAGP XCO:0000351 D RGD:61091|PMID:9563479 20200319 RGD 61114 DA/Bkl strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000281 D RGD:61066|PMID:10857786 19990101 RGD compared to BN 61114 DA/Bkl strain DOID:7148 rheumatoid arthritis sexual_dimorphism IAGP D RGD:61066|PMID:10857786 20210125 RGD more severe in female DA/Bkl 61116 SHRSP/A3 strain DOID:12387 nephrogenic diabetes insipidus IAGP D RGD:150429659|PMID:26574044 20210914 RGD compared to SHR-B2 61116 SHRSP/A3 strain DOID:9007096 Stroke susceptibility IAGP XCO:0000795 D RGD:149735373|PMID:32300198 20210910 RGD compared to SHRSP.SHR-(rs106374972-rs106170276)/Utx 61117 BN-Lx/Cub Brown Norway with polydactyly-luxate strain DOID:2030 anxiety disorder MODEL: spontaneous IAGP D RGD:737695|PMID:14739700 20200415 RGD compared to SHR/Ola strain 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:734061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1059 intellectual disability ISO RGD:734061 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:10763 hypertension IDA D RGD:1581302|PMID:11036160 20070724 RGD corticotropin releasing hormone-induced 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:12918 thromboangiitis obliterans IEP D RGD:5508315|PMID:19572944 20111013 RGD mRNA:increased expression:femoral artery (rat) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1470 major depressive disorder ISO RGD:734061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23529111 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:737026 D RGD:734822|PMID:11988580 19990101 RGD 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1596 depressive disorder IEP D RGD:5147490|PMID:20860876 20110808 RGD 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2030 anxiety disorder ISO RGD:734061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9299637|PMID:22231481 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2773 contact dermatitis ISO RGD:734061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12631246 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:5147485|PMID:19663668 20110808 RGD DNA:SNP: :RS242941 (human) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:5147488|PMID:16113459 20110808 RGD DNA:SNPs: :rs1876828, rs242939, rs242941 (human) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:734061 D RGD:11097322|PMID:19210659 20110805 RGD DNA:SNP:intron: (rs242941) (human) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:3877 functional colonic disease IEP D RGD:5130948|PMID:20096320 20110415 RGD 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:4483 rhinitis ISO RGD:734061 D RGD:5130940|PMID:17597629 20110415 RGD mRNA, protein:increased expression:nasal cavity epithelium 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:630 genetic disease ISO RGD:734061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9001109 Anorexia ISO RGD:734061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:737026 D RGD:5147472|PMID:21774994 20110805 RGD 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:734061 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002362 Hyperkinesis ISO RGD:734061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002457 Experimental Arthritis IMP D RGD:1626231|PMID:17550594 20070725 RGD 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9003971 Postoperative Pain ISO RGD:734061 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders IEP D RGD:5508175|PMID:12576179 20111006 RGD mRNA:increased expression:anterior pituitary (rat) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734061 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9007877 Fetal Hypoxia IEP D RGD:5491006|PMID:19409200 20110926 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734061 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:5507823|PMID:20472052 20111004 RGD mRNA:decreased expression:hypothalamus (rat) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9778 irritable bowel syndrome IEP D RGD:5130948|PMID:20096320 20111006 RGD protein:increased expression:distal colon (rat) 61276 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9970 obesity ISO RGD:734061 D RGD:1626226|PMID:14724656 20070724 RGD DNA:SNP:CDS:861C>T (human) 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732341 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:10763 hypertension ISO RGD:732341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:2843 long QT syndrome ISO RGD:732341 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:630 genetic disease ISO RGD:732341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732342 D RGD:2315591|PMID:16895983 20100105 RGD 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:732341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 61296 Aoc1 amine oxidase, copper containing 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312809|PMID:1632778 20090904 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732480 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732480 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:7240710 20130221 OMIM 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-Related Disorder PMID:11528513|PMID:12372593|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26768280|PMID:26986878|PMID:26989944|PMID:27492805|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:28717666|PMID:28797631|PMID:28828227|PMID:29031079|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29858556|PMID:30669930|PMID:30758704|PMID:30842409|PMID:31573509|PMID:31919945|PMID:32298515|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32397312|PMID:32528171|PMID:33509756|PMID:9536098 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732480 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:732480 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0111207 distal hereditary motor neuronopathy type 2B ISO RGD:732480 D RGD:7240710 20130221 OMIM 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:0111207 distal hereditary motor neuronopathy type 2B ISO RGD:732480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B PMID:11528513|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:16368711|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21149811|PMID:21971574|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28144995|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:33509756|PMID:9536098 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28144995|PMID:28166811|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:9536098 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:10652 Alzheimer's disease IEP D RGD:10402580|PMID:25772164 20151027 RGD mRNA,protein:increased expression:brainstem, astrocyte: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:1115 sarcoma disease_progression ISO RGD:732480 D RGD:10402768|PMID:21833720 20151028 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732480 D RGD:10402764|PMID:21931298 20151028 RGD protein:increased expression:glomerulus, podocyte: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732480 D RGD:10402768|PMID:21833720 20151028 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:1824 status epilepticus ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10402577|PMID:10559386 20151027 RGD protein:increased expression:brain,astrocyte: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:2773 contact dermatitis ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732480 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732480 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:6000 congestive heart failure ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17481944 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:630 genetic disease ISO RGD:732480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12372593|PMID:15122254|PMID:16087758|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22521462|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:25025039|PMID:25429913|PMID:25547330|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:32334137|PMID:32376792|PMID:32528171|PMID:33509756|PMID:9536098 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732480 D RGD:10402843|PMID:21417552 20151102 RGD protein:increased expression:serum: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10402749|PMID:12098653 20151028 RGD mRNA,protein:increased expression:spinal cord: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:38549580|PMID:30287503 20200902 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000307 Presbycusis ISO RGD:732481 D RGD:10402574|PMID:24587312 20151027 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000972 Fever IEP D RGD:1304397|PMID:12834255 20120322 RGD protein:increased expression:glial cell 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000998 Brain Injuries IEP D RGD:6480530|PMID:11746764 20120327 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9001725 Retina Reperfusion Injury IDA D RGD:10402767|PMID:21310899 20151028 RGD 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:10402764|PMID:21931298 20151028 RGD mRNA,protein:increased expression:glomerulus: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732480 D RGD:10402764|PMID:21931298 20151028 RGD protein:increased expression:glomerulus, podocyte: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002221 Hyperplasia ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864298 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9003104 Intracranial Hemorrhages IEP D RGD:10402769|PMID:15472083 20151028 RGD protein:increased expression:brain: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19193722 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:732480 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9008691 Liver Injury IEP D RGD:10402770|PMID:22417648 20151028 RGD mRNA,protein:increased expression:liver,hepatocyte,macrophage: 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 61306 Hspb1 heat shock protein family B (small) member 1 gene DOID:9538 multiple myeloma ISO RGD:732480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12855565 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:7240710 20130619 OMIM 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY | ClinVar Annotator: match by term: p47-PHOX DEFICIENCY PMID:11133775|PMID:11433300|PMID:11920901|PMID:16972229|PMID:24446915|PMID:25741868|PMID:33746979|PMID:742630|PMID:7678602 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED PMID:25741868 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348698 D RGD:8554872 20180522 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:10763 hypertension ISO RGD:1348698 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16331104|PMID:17324946|PMID:19018797|PMID:32165127 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:10825 essential hypertension ISO RGD:1348698 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:10941 intracranial aneurysm ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19381132 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1348698 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348698 D RGD:1624399|PMID:16532385 20070510 RGD 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISO RGD:1348698 D RGD:1600562|PMID:7678602 20070314 RGD autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISO RGD:1348698 D RGD:1624401|PMID:2393022 20070510 RGD 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISS RGD:734055 D RGD:13592920 20180518 MouseDO OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348698 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:630 genetic disease ISO RGD:1348698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348698 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:28135245 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis induced IAGP XCO:0000263 D RGD:41404729|PMID:21275845 20210208 RGD DNA:polymorphism:M153T (rat) 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16864727 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:783 end stage renal disease ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14871415 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9002395 Hypothermia ISO RGD:1348698 D RGD:11554173 20190212 CTD CTD Direct Evidence: therapeutic PMID:30366073 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9002457 Experimental Arthritis severity IAGP D RGD:628543|PMID:12461526 19990101 RGD DNA:missense mutations:cds:p.M106V, p.M153T (rat) 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:16380483 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21742780 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348698 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 61307 Ncf1 neutrophil cytosolic factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1348698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISS RGD:1321715 D RGD:13592920 20180518 MouseDO OMIM:607785 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1321714 D RGD:149735513|PMID:33075166 20210720 RGD DNA:polymorphisms:multiple 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1321714 D RGD:149735374|PMID:32048621 20210720 RGD mRNA:decreased expression:oral epithelium (human) 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1321714 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:22417203 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1321714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17454189|PMID:24160850|PMID:26285909 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1321715 D RGD:11049481|PMID:15718420 20160406 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0060903 thrombosis ISO RGD:1321714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0070004 myeloid neoplasm ISO RGD:1321715 D RGD:11049465|PMID:17936561 20160406 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1321714 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1321714 D RGD:11049466|PMID:8562934 20160406 RGD mRNA,protein:increased expression:bone marrow: 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:0081082 acute myelomonocytic leukemia treatment ISO RGD:1321714 D RGD:11049503|PMID:22187040 20160407 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:1321714 D RGD:2302209|PMID:14977818 20081202 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:4971 myelofibrosis ISO RGD:1321714 D RGD:11049484|PMID:21487043 20160406 RGD mRNA,protein:increased expression:multiple: 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1321714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1321714 D RGD:149735514|PMID:27511526 20210720 RGD human cells in mouse model 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:8692 myeloid leukemia ISO RGD:1321715 D RGD:11049465|PMID:17936561 20160406 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1321715 D RGD:2302210|PMID:14566827 20081202 RGD associated with Prostatic Neoplasms 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1321714 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9001039 Leukocytosis ISO RGD:1321714 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27099147|PMID:27725143 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321715 D RGD:2302208|PMID:10786663 20081202 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9002457 Experimental Arthritis IAGP D RGD:61066|PMID:10857786 20070105 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1321714 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1321715 D RGD:2302211|PMID:10498246 20081202 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1321714 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:11049466|PMID:8562934 20160406 RGD mRNA,protein:increased expression:bone marrow: 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:11049497|PMID:11442493 20160407 RGD DNA:missense mutation:exon:p.D835Y,D835H(human) 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:17050201|PMID:17184839|PMID:19822134|PMID:21441929|PMID:21482694|PMID:21928377|PMID:22409268|PMID:23036488|PMID:23906301|PMID:24526162|PMID:25053825|PMID:27099147|PMID:27992414 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:1598955|PMID:11290608 20070105 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:7240710 20130221 OMIM 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic PMID:11091200|PMID:11290608|PMID:11442493|PMID:12384447|PMID:14604974|PMID:14670924|PMID:14737077|PMID:15256420|PMID:15374878|PMID:15625552|PMID:15667533|PMID:15863200|PMID:16091740|PMID:16371029|PMID:16410449|PMID:16573742|PMID:16857985|PMID:16990784|PMID:17047150|PMID:17387224|PMID:17606455|PMID:17889720|PMID:17942876|PMID:19602710|PMID:19657110|PMID:19840437|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:22504185|PMID:22504186|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:23878140|PMID:24046014|PMID:24619500|PMID:25157968 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321715 D RGD:11049471|PMID:24184354 20160406 RGD 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1321714 D RGD:11049467|PMID:16642044 20160406 RGD DNA:duplication mutation:cds: 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321714 D RGD:11049482|PMID:23969938 20160406 RGD DNA:mutations:cds: 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:gastrointestinal system smooth muscle (human) PMID:21171987|REF_RGD_ID:149735515 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9538 multiple myeloma ISO RGD:1321714 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:7240710 20230505 OMIM 61308 Flt3 Fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:11290608|PMID:11442493|PMID:14604974|PMID:14670924|PMID:15256420|PMID:16857985|PMID:17606455|PMID:17889720|PMID:19657110|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:24046014|PMID:25157968 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:0050700 cardiomyopathy IEP D RGD:2290406|PMID:17982970 20080311 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733906 D RGD:2290436|PMID:14744773 20080312 RGD protein:increased expression:breast 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer ISO RGD:733906 D RGD:2290397|PMID:17325663 20080311 RGD DNA, protein:hypermethylation, decreased expression:promoter, prostate gland 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733906 D RGD:2290389|PMID:18329693 20080311 RGD protein:increased expression:prostate gland 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10652 Alzheimer's disease ISO RGD:733906 D RGD:1580169|PMID:12614934 19990101 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10762 portal hypertension IMP D RGD:2290408|PMID:17351970 20080311 RGD associated with Liver Cirrhosis, Experimental 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10941 intracranial aneurysm IEP D RGD:2290352|PMID:17569872 20080310 RGD mRNA:increased expression:blood vessel 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:2290395|PMID:17466450 20080311 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733906 D RGD:2298521|PMID:17374529 20080707 RGD protein:decreased expression:serum 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:733906 D RGD:1580161|PMID:15616792 19990101 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733906 D RGD:1580653|PMID:15056834 19990101 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:12858 Huntington's disease ISO RGD:733906 D RGD:1580169|PMID:12614934 19990101 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:13099 Moyamoya disease ISO RGD:733906 D RGD:1580650|PMID:16723886 19990101 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:733906 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733906 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased expression:aorta (human) 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:14323 Marfan syndrome ISO RGD:733906 D RGD:1582351|PMID:16820601 20190122 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:1532 pleural disease ISO RGD:733906 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:182 calcinosis ISO RGD:733906 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:2006 preretinal fibrosis ISO RGD:733906 D RGD:2312481|PMID:11004090 20090819 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:733906 D RGD:2290349|PMID:16901349 20080310 RGD protein:decreased expression:plasma 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:733906 D RGD:2290360|PMID:17009991 20080310 RGD mRNA:decreased expression:endometrium 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:733906 D RGD:2290402|PMID:16619570 20080311 RGD protein:decreased expression:uterine cervix 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma ISO RGD:733906 D RGD:2290358|PMID:18035688 20080310 RGD mRNA:decreased expression:kidney 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733906 D RGD:2290359|PMID:17572184 20080310 RGD protein:increased expression:kidney 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:5844 myocardial infarction ISO RGD:733906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:6000 congestive heart failure IEP D RGD:2290467|PMID:10773234 20080313 RGD protein:increased expression:heart left ventricle 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:630 genetic disease ISO RGD:733906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733906 D RGD:2290394|PMID:17505812 20080311 RGD associated with Breast Neoplasms 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9000998 Brain Injuries IEP D RGD:2290468|PMID:10719361 20080313 RGD mRNA:increased expression:brain, neuron, microglial cell 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2290407|PMID:17491697 20080311 RGD mRNA:increased expression:kidney 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9002498 Wallerian Degeneration IEP D RGD:1600154|PMID:16683235 20080312 RGD mRNA, protein:increased expression:dorsal root ganglion 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9004610 Acute Lung Injury severity IMP D RGD:9999422|PMID:10092827 20150417 RGD 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9005463 Occupational Diseases ISO RGD:733906 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:2290392|PMID:17642161 20080311 RGD protein:decreased expression:breast 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:2290398|PMID:17240786 20080311 RGD protein:decreased expression:serum 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:733906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 61312 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733906 D RGD:2312468|PMID:17020653 20090818 RGD protein:increased expression:serum 61313 Pter phosphotriesterase related gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352492 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 61313 Pter phosphotriesterase related gene DOID:1909 melanoma ISO RGD:1352492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 61313 Pter phosphotriesterase related gene DOID:630 genetic disease ISO RGD:1352492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61313 Pter phosphotriesterase related gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61313 Pter phosphotriesterase related gene DOID:9007188 Liver Neoplasms ISO RGD:1352492 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 61318 Cd69 Cd69 molecule gene DOID:630 genetic disease ISO RGD:1351395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61318 Cd69 Cd69 molecule gene DOID:848 arthritis ISO RGD:1351395 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12882836 61318 Cd69 Cd69 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1351395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12882836 61318 Cd69 Cd69 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1351395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 61318 Cd69 Cd69 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351395 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 61324 Eae5 Experimental allergic encephalomyelitis QTL 5 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61324 Eae5 Experimental allergic encephalomyelitis QTL 5 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61325 Aia5 Adjuvant induced arthritis QTL 5 qtl DOID:9002457 Experimental Arthritis IDA D RGD:625379|PMID:11953987 19990101 RGD 61326 Eae6 Experimental allergic encephalomyelitis QTL 6 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61326 Eae6 Experimental allergic encephalomyelitis QTL 6 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 20130724 RGD 61327 Eae7 Experimental allergic encephalomyelitis QTL 7 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61327 Eae7 Experimental allergic encephalomyelitis QTL 7 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 20130724 RGD 61328 Eae8 Experimental allergic encephalomyelitis QTL 8 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61328 Eae8 Experimental allergic encephalomyelitis QTL 8 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61329 Eae9 Experimental allergic encephalomyelitis QTL 9 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61330 Eau1 Experimental allergic uveoretinitis QTL 1 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:61073|PMID:10323205 19990101 RGD 61331 Eau2 Experimental allergic uveoretinitis QTL 2 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:61073|PMID:10323205 19990101 RGD 61332 Eau3 Experimental allergic uveoretinitis QTL 3 qtl DOID:9005647 Experimental Autoimmune Uveitis IDA D RGD:61073|PMID:10323205 19990101 RGD 61333 Gluco16 Glucose level QTL 16 qtl DOID:9007692 Insulin Resistance IDA D RGD:61078|PMID:9171835 19990101 RGD 61334 Gluco17 Glucose level QTL 17 qtl DOID:9007692 Insulin Resistance IDA D RGD:61078|PMID:9171835 19990101 RGD 61335 Bp20 Blood pressure QTL 20 qtl DOID:10763 hypertension IDA D RGD:61045|PMID:9132270 19990101 RGD 61336 Bp21 Blood pressure QTL 21 qtl DOID:10763 hypertension IDA D RGD:61045|PMID:9132270 19990101 RGD 61337 Bp22 Blood pressure QTL 22 qtl DOID:10763 hypertension IDA D RGD:61045|PMID:9132270 19990101 RGD 61338 Bp23 Blood pressure QTL 23 qtl DOID:10763 hypertension IDA D RGD:61045|PMID:9132270 19990101 RGD 61339 Bp24 Blood pressure QTL 24 qtl DOID:9006024 Hypotension IAGP D RGD:61046|PMID:8567976 19990101 RGD 61340 Bp25 Blood pressure QTL 25 qtl DOID:10763 hypertension IDA D RGD:61047|PMID:9271663 19990101 RGD 61341 Bp26 Blood pressure QTL 26 qtl DOID:10763 hypertension IAGP D RGD:61048|PMID:9336384 19990101 RGD 61342 Bp27 Blood pressure QTL 27 qtl DOID:10763 hypertension IDA D RGD:61049|PMID:8609235 19990101 RGD 61343 Bp28 Blood pressure QTL 28 qtl DOID:10763 hypertension IDA D RGD:61050|PMID:8094726 19990101 RGD 61344 Bp29 Blood pressure QTL 29 qtl DOID:10763 hypertension IDA D RGD:61051|PMID:9774356 19990101 RGD 61345 Rf1 Renal disease susceptibility QTL 1 qtl DOID:783 end stage renal disease IDA D RGD:61060|PMID:8528250 19990101 RGD 61346 Rf2 Renal disease susceptibility QTL 2 qtl DOID:783 end stage renal disease IDA D RGD:61060|PMID:8528250 19990101 RGD 61347 Bp197 Blood pressure QTL 197 qtl DOID:10763 hypertension IDA D RGD:61060|PMID:8528250 19990101 RGD 61348 Bp30 Blood pressure QTL 30 qtl DOID:10763 hypertension IDA D RGD:61049|PMID:8609235 19990101 RGD 61349 Bp31 Blood pressure QTL 31 qtl DOID:10763 hypertension IDA D RGD:61043|PMID:8952608 19990101 RGD 61350 Bp32 Blood pressure QTL 32 qtl DOID:10763 hypertension IDA D RGD:61044|PMID:7560090 19990101 RGD 61351 Bp33 Blood pressure QTL 33 qtl DOID:10763 hypertension IDA D RGD:61044|PMID:7560090 19990101 RGD 61352 Bp34 Blood pressure QTL 34 qtl DOID:10763 hypertension IDA D RGD:61053|PMID:9722941 19990101 RGD 61353 Bp35 Blood pressure QTL 35 qtl DOID:10763 hypertension IAGP D RGD:61054|PMID:9045857 19990101 RGD 61354 Pia10 Pristane induced arthritis QTL 10 qtl DOID:9002457 Experimental Arthritis IDA D RGD:629569|PMID:12209529 19990101 RGD 61355 Bp36 Blood pressure QTL 36 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 61356 Bp37 Blood pressure QTL 37 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 61357 Bp38 Blood pressure QTL 38 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 61358 Bp39 Blood pressure QTL 39 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 61359 Eaex Experimental allergic encephalomyelitis QTL x qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61359 Eaex Experimental allergic encephalomyelitis QTL x qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61360 Eaey Experimental allergic encephalomyelitis QTL y qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61360 Eaey Experimental allergic encephalomyelitis QTL y qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61362 Oia2 Oil induced arthritis QTL 2 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:61087|PMID:9600974 19990101 RGD 61363 Oia3 Oil induced arthritis QTL 3 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61087|PMID:9600974 19990101 RGD 61364 Iddm2 Insulin dependent diabetes mellitus QTL 2 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:61075|PMID:1303251 19990101 RGD 61365 Iddm1 Insulin dependent diabetes mellitus QTL 1 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:61075|PMID:1303251 20120920 RGD 61366 Iddm3 Insulin dependent diabetes mellitus QTL 3 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:61075|PMID:1303251 19990101 RGD 61367 Iddm4 Insulin dependent diabetes mellitus QTL 4 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:61077|PMID:9571179 19990101 RGD 61368 Mcs1 Mammary carcinoma susceptibility QTL 1 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:61080|PMID:8168109 20120905 RGD 61369 Mcs2 Mammary carcinoma susceptibility QTL 2 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:61081|PMID:9584103 20120830 RGD 61370 Mcs3 Mammary carcinoma susceptibility QTL 3 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:61081|PMID:9584103 20120905 RGD 61371 Edpm1 Estrogen-dependent pituitary mass QTL 1 qtl DOID:9008046 Neoplasms, Hormone-Dependent IDA D RGD:61074|PMID:9337394 19990101 RGD 61372 Bp40 Blood pressure QTL 40 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 61373 Mcs4 Mammary carcinoma susceptibility QTL 4 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:61081|PMID:9584103 20120905 RGD 61374 Edpm2 Estrogen-dependent pituitary mass QTL 2 qtl DOID:9008046 Neoplasms, Hormone-Dependent IDA D RGD:61074|PMID:9337394 19990101 RGD 61375 Bp41 Blood pressure QTL 41 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD 61376 Bp42 Blood pressure QTL 42 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61377 Edpm3 Estrogen-dependent pituitary mass QTL 3 qtl DOID:9008046 Neoplasms, Hormone-Dependent IDA D RGD:61074|PMID:9337394 19990101 RGD 61378 Bp43 Blood pressure QTL 43 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61379 Bp44 Blood pressure QTL 44 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61380 Edpm5 Estrogen-dependent pituitary mass QTL 5 qtl DOID:9002234 Pituitary Neoplasms IDA D RGD:61074|PMID:9337394 19990101 RGD 61380 Edpm5 Estrogen-dependent pituitary mass QTL 5 qtl DOID:9008046 Neoplasms, Hormone-Dependent IDA D RGD:61074|PMID:9337394 19990101 RGD 61381 Bp45 Blood pressure QTL 45 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61382 Bp46 Blood pressure QTL 46 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61383 Bp47 Blood pressure QTL 47 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61384 Bp48 Blood pressure QTL 48 qtl DOID:10763 hypertension IDA D RGD:61055|PMID:9199194 19990101 RGD 61385 Edpm9 Estrogen-dependent pituitary mass QTL 9 qtl DOID:9008046 Neoplasms, Hormone-Dependent IDA D RGD:61074|PMID:9337394 19990101 RGD 61386 Bp49 Blood pressure QTL 49 qtl DOID:10763 hypertension IDA D RGD:61056|PMID:9241273 19990101 RGD 61386 Bp49 Blood pressure QTL 49 qtl DOID:3454 brain infarction IDA D RGD:61056|PMID:9241273 20070618 RGD 61387 Bp1 Blood pressure QTL 1 qtl DOID:10763 hypertension IDA D RGD:61036|PMID:1655275 19990101 RGD 61388 Bp2 Blood pressure QTL 2 qtl DOID:10763 hypertension IDA D RGD:61036|PMID:1655275 19990101 RGD 61389 Bp3 Blood pressure QTL 3 qtl DOID:10763 hypertension IDA D RGD:61052|PMID:1656270 19990101 RGD 61390 Bp4 Blood pressure QTL 4 qtl DOID:10763 hypertension IDA D RGD:61052|PMID:1656270 19990101 RGD 61391 Bp5 Blood pressure QTL 5 qtl DOID:10763 hypertension IDA D RGD:61057|PMID:7981757 19990101 RGD 61392 Bp6 Blood pressure QTL 6 qtl DOID:10763 hypertension IDA D RGD:61057|PMID:7981757 19990101 RGD 61393 Bp7 Blood pressure QTL 7 qtl DOID:10763 hypertension IDA D RGD:61059|PMID:8201007 19990101 RGD 61394 Bp8 Blood pressure QTL 8 qtl DOID:10763 hypertension IDA D RGD:61059|PMID:8201007 19990101 RGD 61395 Nka1 Natural killer alloreactivity QTL 1 qtl DOID:417 autoimmune disease IAGP D RGD:61084|PMID:9521051 19990101 RGD 61396 Bp9 Blood pressure QTL 9 qtl DOID:10763 hypertension IDA D RGD:70857|PMID:9299556 19990101 RGD 61397 Bw17 Body weight QTL 17 qtl DOID:9003287 Body Weight Changes IDA D RGD:61061|PMID:8528248 19990101 RGD 61398 Bp50 Blood pressure QTL 50 qtl DOID:10763 hypertension IAGP D RGD:61058|PMID:9329963 19990101 RGD 61399 Tcat1 Tongue tumor resistance QTL 1 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:61091|PMID:9563479 19990101 RGD 61400 Niddm1 Non-insulin dependent diabetes mellitus QTL 1 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61082|PMID:8528247 19990101 RGD 61401 Niddm2 Non-insulin dependent diabetes mellitus QTL 2 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61082|PMID:8528247 19990101 RGD 61402 Niddm3 Non-insulin dependent diabetes mellitus QTL 3 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61082|PMID:8528247 19990101 RGD 61403 Niddm4 Non-insulin dependent diabetes mellitus QTL 4 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61083|PMID:9169130 19990101 RGD 61404 Bw120 Body weight QTL 120 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61021|PMID:10051320 19990101 RGD 61405 Niddm6 Non-insulin dependent diabetes mellitus QTL 6 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61021|PMID:10051320 19990101 RGD 61406 Scwia1 Streptococcal cell wall induced arthritis QTL 1 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61064|PMID:10331011 19990101 RGD 61407 Scl12 Serum cholesterol level QTL 12 qtl DOID:1168 familial hyperlipidemia IDA D RGD:61079|PMID:8698878 19990101 RGD 61408 Scl23 Serum cholesterol level QTL 23 qtl DOID:1168 familial hyperlipidemia IDA D RGD:61079|PMID:8698878 19990101 RGD 61409 Scl13 Serum cholesterol level QTL 13 qtl DOID:1168 familial hyperlipidemia IDA D RGD:61079|PMID:8698878 19990101 RGD 61410 Bw19 Body weight QTL 19 qtl DOID:9003287 Body Weight Changes IDA D RGD:61082|PMID:8528247 19990101 RGD 61411 Pia1 Pristane induced arthritis QTL 1 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61089|PMID:9843218 19990101 RGD 61412 Pia2 Pristane induced arthritis QTL 2 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61089|PMID:9843218 19990101 RGD 61413 Eae10 Experimental allergic encephalomyelitis QTL 10 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61413 Eae10 Experimental allergic encephalomyelitis QTL 10 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61414 Pia3 Pristane induced arthritis QTL 3 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61089|PMID:9843218 19990101 RGD 61415 Eae11 Experimental allergic encephalomyelitis QTL 11 qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 61415 Eae11 Experimental allergic encephalomyelitis QTL 11 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61416 Pia4 Pristane induced arthritis QTL 4 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61089|PMID:9843218 19990101 RGD 61417 Cia10 Collagen induced arthritis QTL 10 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61063|PMID:9870869 19990101 RGD 61418 Pia5 Pristane induced arthritis QTL 5 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61089|PMID:9843218 19990101 RGD 61419 Cia11 Collagen induced arthritis QTL 11 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 61420 Pia6 Pristane induced arthritis QTL 6 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61089|PMID:9843218 19990101 RGD 61421 Cia12 Collagen induced arthritis QTL 12 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 61422 Cia13 Collagen induced arthritis QTL 13 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61423 Cia14 Collagen induced arthritis QTL 14 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 61424 Scl1 Serum cholesterol level QTL 1 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:61092|PMID:10634822 19990101 RGD 61425 Cia15 Collagen induced arthritis QTL 15 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61426 Scl2 Serum cholesterol level QTL 2 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:61092|PMID:10634822 19990101 RGD 61427 Cia16 Collagen induced arthritis QTL 16 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61428 Scl3 Serum cholesterol level QTL 3 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:61092|PMID:10634822 19990101 RGD 61429 Cia17 Collagen induced arthritis QTL 17 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61430 Cia18 Collagen induced arthritis QTL 18 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61431 Cia19 Collagen induced arthritis QTL 19 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61432 Cia1 Collagen induced arthritis QTL 1 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61062|PMID:8782824 19990101 RGD 61433 Cia2 Collagen induced arthritis QTL 2 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61062|PMID:8782824 19990101 RGD 61434 Cia3 Collagen induced arthritis QTL 3 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61062|PMID:8782824 20121101 RGD 61435 Cia4 Collagen induced arthritis QTL 4 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61062|PMID:8782824 19990101 RGD 61435 Cia4 Collagen induced arthritis QTL 4 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61069|PMID:10398805 19990101 RGD 61436 Cia5 Collagen induced arthritis QTL 5 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61062|PMID:8782824 19990101 RGD 61437 Cia6 Collagen induced arthritis QTL 6 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61438 Cia7 Collagen induced arthritis QTL 7 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61063|PMID:9870869 19990101 RGD 61438 Cia7 Collagen induced arthritis QTL 7 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61439 Cia8 Collagen induced arthritis QTL 8 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61069|PMID:10398805 19990101 RGD 61440 Cia9 Collagen induced arthritis QTL 9 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61063|PMID:9870869 19990101 RGD 61441 Btemp1 Thermal response to stress QTL 1 qtl DOID:9008809 Body Temperature Changes IDA D RGD:61094|PMID:10679499 19990101 RGD 61442 Strs1 Sensitivity to stroke QTL 1 qtl DOID:9007096 Stroke IDA D RGD:61093|PMID:8696337 19990101 RGD 61443 Btemp2 Thermal response to stress QTL 2 qtl DOID:9008809 Body Temperature Changes IDA D RGD:61094|PMID:10679499 19990101 RGD 61444 Strs2 Sensitivity to stroke QTL 2 qtl DOID:9007096 Stroke IAGP XCO:0000795, XCO:0000030, XCO:0000032 D RGD:61093|PMID:8696337 19990101 RGD compared to SHR/Bbb 61445 Strs3 Sensitivity to stroke QTL 3 qtl DOID:9007096 Stroke IDA D RGD:61093|PMID:8696337 19990101 RGD 61446 Coreg2 Compensatory renal growth QTL 2 qtl DOID:557 kidney disease IAGP D RGD:61071|PMID:10864582 19990101 RGD 61447 Tcas1 Tongue tumor susceptibility QTL 1 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:61091|PMID:9563479 19990101 RGD 61448 Ciaa1 CIA Autoantibody QTL 1 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61062|PMID:8782824 19990101 RGD 61448 Ciaa1 CIA Autoantibody QTL 1 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 61449 Ciaa2 CIA Autoantibody QTL 2 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 61449 Ciaa2 CIA Autoantibody QTL 2 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61518 19990101 RGD 61450 Ciaa3 CIA Autoantibody QTL 3 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 61451 Ciaa4 CIA Autoantibody QTL 4 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61452 Ciaa5 CIA Autoantibody QTL 5 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61067|PMID:11001927 19990101 RGD 61453 Pur1 Proteinuria QTL 1 qtl DOID:576 proteinuria IDA D RGD:619599|PMID:9799838 19990101 RGD 61455 Niddm7 Non-insulin dependent diabetes mellitus QTL 7 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61061|PMID:8528248 19990101 RGD 61457 Niddm8 Non-insulin dependent diabetes mellitus QTL 8 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61061|PMID:8528248 19990101 RGD 61458 Bp10 Blood pressure QTL 10 qtl DOID:10763 hypertension IAGP D RGD:619639|PMID:7768551 19990101 RGD 61460 Niddm9 Non-insulin dependent diabetes mellitus QTL 9 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61061|PMID:8528248 19990101 RGD 61461 Bp11 Blood pressure QTL 11 qtl DOID:10763 hypertension IDA D RGD:61037|PMID:1363813 19990101 RGD 61462 Niddm10 Non-insulin dependent diabetes mellitus QTL 10 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61061|PMID:8528248 19990101 RGD 61463 Bp12 Blood pressure QTL 12 qtl DOID:10763 hypertension IDA D RGD:61037|PMID:1363813 19990101 RGD 61464 Niddm11 Non-insulin dependent diabetes mellitus QTL 11 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61061|PMID:8528248 19990101 RGD 61465 Bp13 Blood pressure QTL 13 qtl DOID:10763 hypertension IDA D RGD:61041|PMID:8901842 19990101 RGD 61466 Niddm12 Non-insulin dependent diabetes mellitus QTL 12 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61061|PMID:8528248 19990101 RGD 61467 Bp14 Blood pressure QTL 14 qtl DOID:10763 hypertension IDA D RGD:61041|PMID:8901842 19990101 RGD 61468 Bp15 Blood pressure QTL 15 qtl DOID:10763 hypertension IDA D RGD:61041|PMID:8901842 19990101 RGD 61469 Bp16 Blood pressure QTL 16 qtl DOID:10763 hypertension IDA D RGD:61043|PMID:8952608 19990101 RGD 61471 Bp18 Blood pressure QTL 18 qtl DOID:10763 hypertension IDA D RGD:61045|PMID:9132270 19990101 RGD 61472 Aia1 Adjuvant induced arthritis QTL 1 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61035|PMID:9780220 19990101 RGD 61473 Bp19 Blood pressure QTL 19 qtl DOID:10763 hypertension IDA D RGD:61045|PMID:9132270 19990101 RGD 61474 Eae1 Experimental allergic encephalomyelitis QTL 1 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 61475 Aia2 Adjuvant induced arthritis QTL 2 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61035|PMID:9780220 19990101 RGD 61476 Aia3 Adjuvant induced arthritis QTL 3 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61035|PMID:9780220 19990101 RGD 61477 Aia4 Adjuvant induced arthritis QTL 4 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61035|PMID:9780220 19990101 RGD 61498 BN/NHsdMcwi strain DOID:0050851 glomerulosclerosis MODEL: control IAGP XCO:0000022 D RGD:2300225|PMID:18653478 20200122 RGD compared to male SS/JrHsdMcwi 61498 BN/NHsdMcwi strain DOID:10763 hypertension MODEL: control IAGP XCO:0000022 D RGD:727992|PMID:14532335 20191127 RGD compared to SS/JrHsdMcwi 61498 BN/NHsdMcwi strain DOID:576 proteinuria MODEL: control IAGP D RGD:1357409|PMID:15758045 20201030 RGD compared to FHH and congenic 61498 BN/NHsdMcwi strain DOID:9001542 Albuminuria MODEL: control IAGP D RGD:1357409|PMID:15758045 20201030 RGD compared to FHH and congenic 61498 BN/NHsdMcwi strain DOID:9003311 Urinary Calculi susceptibility IAGP XCO:0000649 D RGD:2313354|PMID:19493966 20191212 RGD compared to SS/JrHsdMcwi 61499 SS/JrHsdMcwi strain DOID:0050851 glomerulosclerosis MODEL: induced IAGP XCO:0000022 D RGD:2300225|PMID:18653478 20200122 RGD compared to male BN/NHsdMcwi 61499 SS/JrHsdMcwi strain DOID:10763 hypertension IAGP D RGD:12911217|PMID:27465994 20170707 RGD 61499 SS/JrHsdMcwi strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:12802369|PMID:23460292 20191211 RGD compared to BN/NHsdMcwi 61499 SS/JrHsdMcwi strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:727992|PMID:14532335 19990101 RGD compared to BN/NHsdMcwi 61499 SS/JrHsdMcwi strain DOID:10763 hypertension treatment IAGP XCO:0000022,XCO:0000032 D RGD:38500204|PMID:28931751 20200813 RGD compared to SS-Kcnj16em1Mcwi 61499 SS/JrHsdMcwi strain DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170407 RGD 61499 SS/JrHsdMcwi strain DOID:9000808 Hypercholesterolemia induced IAGP XCO:0000022 D RGD:727992|PMID:14532335 19990101 RGD 61499 SS/JrHsdMcwi strain DOID:9002165 Diabetic Nephropathies induces IAGP XCO:0000245,XCO:0000241 D RGD:149735534|PMID:29923767 20210726 RGD 61499 SS/JrHsdMcwi strain DOID:9002554 Tachycardia induced IAGP XCO:0000022 D RGD:727992|PMID:14532335 19990101 RGD 61499 SS/JrHsdMcwi strain DOID:9003234 Hypertensive Nephropathy MODEL: induced IAGP XCO:0000022 D RGD:12792230|PMID:27270176 20200131 RGD 61499 SS/JrHsdMcwi strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000022 D RGD:727992|PMID:14532335 19990101 RGD 61499 SS/JrHsdMcwi strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:2301186|PMID:18786441 20081119 RGD compared to BN/NHsdMcwi 61499 SS/JrHsdMcwi strain DOID:9006223 Kidney Reperfusion Injury induced IAGP XCO:0000022 D RGD:2292504|PMID:18417720 20080515 RGD compared to Servo-controlled kidney 61499 SS/JrHsdMcwi strain DOID:9006599 Hypertriglyceridemia induced IAGP XCO:0000022 D RGD:727992|PMID:14532335 19990101 RGD 61499 SS/JrHsdMcwi strain DOID:9007655 Propofol Infusion Syndrome induced IAGP XCO:0000645 D RGD:1626639|PMID:17589973 20191127 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:7240710 20180502 OMIM 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:10072423|PMID:10319889|PMID:10824074|PMID:10894217|PMID:10939576|PMID:10983716|PMID:11009195|PMID:11163284|PMID:11179010|PMID:11222808|PMID:11402119|PMID:11405814|PMID:11487568|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12056932|PMID:12114481|PMID:12116199|PMID:12397156|PMID:12629236|PMID:12707451|PMID:12707457|PMID:12730996|PMID:12764050|PMID:12764051|PMID:12781588|PMID:12891670|PMID:12975291|PMID:14519684|PMID:14639672|PMID:15090472|PMID:15193026|PMID:15197707|PMID:15254940|PMID:15266615|PMID:15390068|PMID:15606901|PMID:15729528|PMID:15816865|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16086186|PMID:16130111|PMID:16227559|PMID:16269266|PMID:16328510|PMID:16339143|PMID:16367892|PMID:16476817|PMID:16500134|PMID:16606767|PMID:16714300|PMID:16769863|PMID:16793319|PMID:17095157|PMID:17187375|PMID:17415800|PMID:17766365|PMID:17914726|PMID:18211709|PMID:18413468|PMID:18485927|PMID:18486522|PMID:18514563|PMID:18519021|PMID:18685134|PMID:18785233|PMID:18927607|PMID:18951541|PMID:18973255|PMID:19006224|PMID:19087301|PMID:19162522|PMID:19205068|PMID:19351622|PMID:19405094|PMID:19636047|PMID:19715670|PMID:19801972|PMID:19891003|PMID:19922375|PMID:19946270|PMID:20301651|PMID:20399249|PMID:20404107|PMID:20457763|PMID:20558392|PMID:20604804|PMID:20643691|PMID:20798600|PMID:21215313|PMID:21322020|PMID:21348451|PMID:21534944|PMID:21625934|PMID:21681106|PMID:21694720|PMID:21993715|PMID:21996382|PMID:22118943|PMID:22233331|PMID:22243833|PMID:22302706|PMID:22523156|PMID:22555654|PMID:22766139|PMID:22777964|PMID:22956510|PMID:22995991|PMID:23275044|PMID:23531835|PMID:23727886|PMID:23751051|PMID:23818421|PMID:23835509|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24375549|PMID:24647965|PMID:24677602|PMID:24816432|PMID:24831986|PMID:25174650|PMID:25238391|PMID:25284222|PMID:25558820|PMID:25591737|PMID:25640679|PMID:25741868|PMID:25815004|PMID:25833766|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26116755|PMID:26161729|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26556299|PMID:26683220|PMID:26764160|PMID:26830385|PMID:26836416|PMID:26855076|PMID:27094865|PMID:27182553|PMID:27206984|PMID:27294386|PMID:27776828|PMID:28492532|PMID:28862745|PMID:29353703|PMID:29530980|PMID:29606608|PMID:29910155|PMID:29967542|PMID:30099245|PMID:30200940|PMID:30502028|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31147223|PMID:31182772|PMID:31217084|PMID:31324919|PMID:31409571|PMID:31429726|PMID:31660654|PMID:31695088|PMID:31929871|PMID:32214227|PMID:32870915|PMID:32970363|PMID:33045815|PMID:33150996|PMID:33166806|PMID:33845304|PMID:34426522|PMID:7565830|PMID:9560156|PMID:9634531|PMID:9731209|PMID:9802278|PMID:9851438 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0080855 Parkinsonism ISO RGD:730938 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10072423|PMID:10894217|PMID:11254447|PMID:12764051|PMID:16914382|PMID:23046578|PMID:25640678|PMID:26558463 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0080855 Parkinsonism ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile parkinsonism | ClinVar Annotator: match by term: Parkinson Disease, Juvenile PMID:10072423|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12730996|PMID:12764050|PMID:14519684|PMID:15823482|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19205068|PMID:19405094|PMID:19636047|PMID:23275044|PMID:24167364|PMID:25591737|PMID:25741868|PMID:25877876|PMID:25939424|PMID:26274610|PMID:26467025|PMID:26556299|PMID:28492532|PMID:28862745|PMID:30200940|PMID:30994895|PMID:31409571|PMID:32870915|PMID:33045815|PMID:34426522 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:1024 leprosy ISO RGD:730938 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 2 PMID:10072423|PMID:11558785|PMID:11889248|PMID:12730996|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16714300|PMID:17766365|PMID:19162522|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26467025|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32970363|PMID:33045815|PMID:33845304 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease ISO RGD:730938 D RGD:10412736|PMID:19716418 20151124 RGD protein:increased expression:vessel,astrocyte: 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease treatment ISO RGD:62089 D RGD:10412735|PMID:24105468 20151124 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12217 Lewy body dementia ISO RGD:730938 D RGD:10412737|PMID:17467279 20151124 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12849 autistic disorder ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12849 autistic disorder ISO RGD:730938 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12858 Huntington's disease ISO RGD:62089 D RGD:10412729|PMID:19464273 20151124 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:1324 lung cancer ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:25939424|PMID:28492532|PMID:28862745 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:13548 secondary Parkinson disease ISO RGD:730938 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:15993444 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:62089 D RGD:13432207|PMID:28695462 20170926 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:10450518|PMID:26223426 20160115 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:10450521|PMID:25639775 20160115 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:12588799|PMID:15198987|PMID:15882845|PMID:16573651|PMID:17010972|PMID:19946270|PMID:22043175|PMID:22841634|PMID:23628791|PMID:24582596|PMID:25149416|PMID:25631236|PMID:28284907 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:737763|PMID:12629236 19990101 RGD DNA:mutations:multiple (human) 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:8693409|PMID:20823226 20151125 RGD protein:increased tyrosine-phosphorylation:substantia nigra, striatum, 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9693725|PMID:9560156 20150212 RGD DNA:deletions:exons: (human) 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment IDA D RGD:13432567|PMID:28526446 20170929 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:62089 D RGD:13432563|PMID:28583715 20170929 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:730938 D RGD:10413859|PMID:16914382 20151125 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:1561 cognitive disorder treatment ISO RGD:62089 D RGD:13432566|PMID:28532818 20170929 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:224 transient cerebral ischemia ISO RGD:62089 D RGD:10413862|PMID:12415119 20151125 RGD protein:decreased expression:cerebral cortex, striatum: 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:730938 D RGD:10412736|PMID:19716418 20151124 RGD protein:increased expression:white matter,astrocyte: 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:2394 ovarian cancer ISO RGD:730938 D RGD:7240710 20190213 OMIM 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:3068 glioblastoma ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:3910 lung adenocarcinoma ISO RGD:730938 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:4362 cervical cancer disease_progression ISO RGD:730938 D RGD:13432557|PMID:28631565 20170929 RGD protein:decreased expression:uterine cervix (human) 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:5119 ovarian cyst ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:5419 schizophrenia ISO RGD:730938 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:684 hepatocellular carcinoma severity ISO RGD:62089 D RGD:13432206|PMID:28862485 20170926 RGD protein:decreased expression:liver (human) 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:8927 learning disability ISO RGD:730938 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9000304 Manganese Poisoning ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20089134 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:13432565|PMID:28546552 20170929 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:62089 D RGD:13432209|PMID:28663335 20170926 RGD protein:increased expression:lung (mouse) 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:12910839|PMID:26882442 20170626 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10072423|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19162522|PMID:19205068|PMID:19405094|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23275044|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10072423|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:14519684|PMID:15823482|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19205068|PMID:19405094|PMID:19636047|PMID:23275044|PMID:24167364|PMID:25591737|PMID:25741868|PMID:25877876|PMID:25939424|PMID:26274610|PMID:26467025|PMID:26556299|PMID:28492532|PMID:28862745|PMID:30200940|PMID:30994895|PMID:31409571|PMID:32870915|PMID:33045815|PMID:34426522 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002928 Colonic Neoplasms ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002955 Nerve Degeneration ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17687034 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:62089 D RGD:13432569|PMID:28522833 20170929 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9005172 Lung Neoplasms ISO RGD:730938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19946270|PMID:25640678 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9005172 Lung Neoplasms ISO RGD:730938 D RGD:7240710 20130221 OMIM 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9005930 Endotoxemia ISO RGD:62089 D RGD:13432559|PMID:28615325 20170929 RGD protein:increased expression:liver, mitochondrion (mouse) 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9006205 Animal Disease Models ISO RGD:730938 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:15882845 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9008023 Memory Disorders ISO RGD:730938 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:62089 D RGD:10412726|PMID:18817929 20151124 RGD 61797 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9352 type 2 diabetes mellitus IEP D RGD:13432564|PMID:28573460 20170929 RGD protein:decreased expression:cerebral cortex (rat) 61798 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731552 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 61798 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:12849 autistic disorder ISO RGD:731552 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61798 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:1826 epilepsy ISO RGD:731552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61798 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:630 genetic disease ISO RGD:731552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10025409|PMID:10369879|PMID:18786918|PMID:20832469|PMID:20966080|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:28492532|PMID:30311386|PMID:8035838 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736263 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:7240710 20130221 OMIM 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A PMID:10025409|PMID:10369879|PMID:10571947|PMID:10925378|PMID:11450843|PMID:11915881|PMID:12112653|PMID:15699719|PMID:16596322|PMID:18030493|PMID:18786918|PMID:18797286|PMID:20301388|PMID:20832469|PMID:20966080|PMID:21242547|PMID:21951272|PMID:22384008|PMID:22420747|PMID:23451214|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:26036578|PMID:26467025|PMID:26515070|PMID:27068579|PMID:28492532|PMID:30311386|PMID:30413759|PMID:31028865|PMID:31995783|PMID:8035838|PMID:9126484 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736263 D RGD:1600303|PMID:10369879 20070306 RGD autosomal dominant non-syndromic sensorineural deafness 2, OMIM:600101 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736263 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:27081546|PMID:30311386|PMID:34652575 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:630 genetic disease ISO RGD:736263 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30311386 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 61799 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9004538 Hearing Loss ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0014667 disease of metabolism ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19142110 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension ISO RGD:734107 D RGD:1331525|PMID:15118671 19990101 GAD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension no_association ISO RGD:734107 D RGD:1624371|PMID:15659047 20070510 RGD DNA:polymorphism: :g.102T>C 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension susceptibility ISO RGD:734107 D RGD:1624375|PMID:11378836 20070510 RGD DNA:polymorphism: :102T>C 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19644229 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder ISO RGD:734107 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to PMID:12476319|PMID:15364038|PMID:9635956 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:12849 autistic disorder ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17280648 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:13948 bladder neck obstruction IEP D RGD:7257660|PMID:23344575 20130828 RGD mRNA:increased expression:urinary bladder 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1470 major depressive disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1561 cognitive disorder ISO RGD:734107 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1596 depressive disorder IEA D RGD:1331525|PMID:15118671 19990101 GAD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:2468 psychotic disorder ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:2841 asthma ISO RGD:734107 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:25322896 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048642 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3312 bipolar disorder IEA D RGD:1331525|PMID:15118671 19990101 GAD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3312 bipolar disorder ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:4195 hyperglycemia IDA D RGD:1624376|PMID:9128844 20070510 RGD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:4989 pancreatitis IDA D RGD:1624393|PMID:16183055 20070510 RGD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia IEA D RGD:1331525|PMID:15118671 19990101 GAD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia IEP D RGD:7257662|PMID:23291154 20130828 RGD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:18513383 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia ISO RGD:734107 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:8622505|PMID:9130948 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:6000 congestive heart failure IDA D RGD:1600503|PMID:16002744 20070510 RGD mRNA:increased expression:heart left ventricle 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:630 genetic disease ISO RGD:734107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:6364 migraine ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12482207 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:679 basal ganglia disease ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18480698 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:8689 anorexia nervosa susceptibility ISO RGD:734107 D RGD:7240710 20230517 OMIM 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9000972 Fever ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19879056 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies IMP D RGD:7257686|PMID:18175064 20130829 RGD associated with Diabetes Mellitus, Experimental; 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:734107 D RGD:7257687|PMID:12213354 20130829 RGD associated with Diabetes Mellitus Type 2; 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia IDA D RGD:7257680|PMID:20531396 20130829 RGD associated with Diabetic neuropathies; 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17888573|PMID:18930597 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002362 Hyperkinesis ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16300424|PMID:19347958 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002669 Hypoxia IEP D RGD:1624392|PMID:16362404 20070510 RGD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002916 Hyperphagia IDA D RGD:1624374|PMID:12392096 20070510 RGD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9003126 Hallucinations ISO RGD:734107 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:29748632 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11259563|PMID:16300424|PMID:19212317 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734107 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cocaine-Related Disorders PMID:12476319|PMID:15364038|PMID:9635956 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135278|PMID:21521772 20120322 RGD protein:increased expression:lung 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9007692 Insulin Resistance ISO RGD:734107 D RGD:1624367|PMID:17062970 20070510 RGD associated with Peripheral Vascular Diseases 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9007923 Back Pain IDA D RGD:1624379|PMID:17268262 20070510 RGD 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9008023 Memory Disorders ISO RGD:734107 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9008675 Dyskinesias ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11526996 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity ISO RGD:734107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17097612 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity ISO RGD:734107 D RGD:1624369|PMID:16491645 20070510 RGD DNA:polymorphism:promoter:-1438G>A 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16491645|REF_RGD_ID:1624369 61800 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity susceptibility ISO RGD:734107 D RGD:1624370|PMID:16328014 20070510 RGD DNA:polymorphism:promoter:-1438G>A 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:0060476 Perlman syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:0110991 Joubert syndrome 22 ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:10763 hypertension ISO RGD:731795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8627522 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:62093 D RGD:13592920 20180518 MouseDO 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731795 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease ISO RGD:731795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10617681|PMID:11104741|PMID:16141947|PMID:19505264 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease treatment IDA D RGD:9698458|PMID:19346455 20150217 RGD 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure IEP D RGD:9698457|PMID:17936780 20150217 RGD mRNA:increased expression:left ventricle cardiac muscle (rat) 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:731795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19023134 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:630 genetic disease ISO RGD:731795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:6432 pulmonary hypertension ISO RGD:731795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14659797 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:9743846|PMID:16936262 20150218 RGD protein:increased expression:liver (rat) 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9003936 Cardiomegaly ISO RGD:731795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:19023134|PMID:20374255 61801 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16863450 61802 Gdi2 GDP dissociation inhibitor 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346683 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 61802 Gdi2 GDP dissociation inhibitor 2 gene DOID:14250 Down syndrome ISO RGD:1346683 D RGD:13208830|PMID:11771757 20170818 RGD protein:decreased expression:brain (human) 61802 Gdi2 GDP dissociation inhibitor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1346683 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 61802 Gdi2 GDP dissociation inhibitor 2 gene DOID:5419 schizophrenia ISO RGD:1346683 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61802 Gdi2 GDP dissociation inhibitor 2 gene DOID:630 genetic disease ISO RGD:1346683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61803 Vapa VAMP associated protein A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737415 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 61803 Vapa VAMP associated protein A gene DOID:1059 intellectual disability ISO RGD:737415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 61803 Vapa VAMP associated protein A gene DOID:543 dystonia ISO RGD:737415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 61803 Vapa VAMP associated protein A gene DOID:630 genetic disease ISO RGD:737415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61804 Map6 microtubule-associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1606581 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61804 Map6 microtubule-associated protein 6 gene DOID:5419 schizophrenia ISS RGD:62096 D RGD:13592920 20180518 MouseDO OMIM:181500 61804 Map6 microtubule-associated protein 6 gene DOID:630 genetic disease ISO RGD:1606581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61804 Map6 microtubule-associated protein 6 gene DOID:9002362 Hyperkinesis ISO RGD:1606581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16046005 61805 Fgf7 fibroblast growth factor 7 gene DOID:10283 prostate cancer ISO RGD:69203 D RGD:2289086|PMID:9285567 20080121 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:62097 D RGD:2301094|PMID:9000125 20080926 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14999240 61805 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:2289085|PMID:11482780 20080121 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy no_association ISO RGD:69203 D RGD:2289086|PMID:9285567 20080121 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:127 leiomyoma ISO RGD:69203 D RGD:2301090|PMID:18566572 20080926 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:1749 squamous cell carcinoma ISO RGD:69203 D RGD:2289084|PMID:17306351 20080121 RGD cervical squamous cell carcinoma 61805 Fgf7 fibroblast growth factor 7 gene DOID:2394 ovarian cancer ISO RGD:69203 D RGD:2289080|PMID:11000522 20080118 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:2717 Bloom syndrome ISO RGD:69203 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61805 Fgf7 fibroblast growth factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:69203 D RGD:2301091|PMID:9070494 20080926 RGD mRNA:decreased expression:endometrium 61805 Fgf7 fibroblast growth factor 7 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69203 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 61805 Fgf7 fibroblast growth factor 7 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:69203 D RGD:2289084|PMID:17306351 20080121 RGD cervical squamous cell carcinoma 61805 Fgf7 fibroblast growth factor 7 gene DOID:3770 pulmonary fibrosis ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15677771 61805 Fgf7 fibroblast growth factor 7 gene DOID:5082 liver cirrhosis ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 61805 Fgf7 fibroblast growth factor 7 gene DOID:630 genetic disease ISO RGD:69203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61805 Fgf7 fibroblast growth factor 7 gene DOID:674 cleft palate ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 61805 Fgf7 fibroblast growth factor 7 gene DOID:8577 ulcerative colitis ISO RGD:69203 D RGD:126928145|PMID:9358773 20210601 RGD mRNA:increased expression:colon, lamina propria, myofibroblasts (human) 61805 Fgf7 fibroblast growth factor 7 gene DOID:8778 Crohn's disease ISO RGD:69203 D RGD:126928145|PMID:9358773 20210601 RGD mRNA:increased expression:colon, ileum, myofibroblasts (human) 61805 Fgf7 fibroblast growth factor 7 gene DOID:9000099 Experimental Colitis treatment ISO RGD:69203 D RGD:126928136|PMID:10219846 20210527 RGD human protein in mouse model 61805 Fgf7 fibroblast growth factor 7 gene DOID:9000310 Lung Injury ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18385170 61805 Fgf7 fibroblast growth factor 7 gene DOID:9002221 Hyperplasia ISO RGD:62097 D RGD:126928149|PMID:10338516 20210601 RGD mRNA:increased expression:distal colon (mouse) 61805 Fgf7 fibroblast growth factor 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 61805 Fgf7 fibroblast growth factor 7 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:62097 D RGD:126928149|PMID:10338516 20210601 RGD mRNA:increased expression:distal colon (mouse) 61805 Fgf7 fibroblast growth factor 7 gene DOID:9004009 Reperfusion Injury ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 61805 Fgf7 fibroblast growth factor 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62097 D RGD:2301094|PMID:9000125 20080926 RGD 61805 Fgf7 fibroblast growth factor 7 gene DOID:9006010 Gingival Hyperplasia ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11023675 61805 Fgf7 fibroblast growth factor 7 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69203 D RGD:126928130|PMID:11076810 20210527 RGD human protein in rat model 61805 Fgf7 fibroblast growth factor 7 gene DOID:9256 colorectal cancer ISO RGD:69203 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 61805 Fgf7 fibroblast growth factor 7 gene DOID:9296 cleft lip ISO RGD:69203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:0050646 distal arthrogryposis ISS RGD:731078 D RGD:13592920 20180518 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:0060476 Perlman syndrome ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731078 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:31694722 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:0111594 distal arthrogryposis type 5D ISO RGD:731078 D RGD:7240710 20140903 OMIM 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:0111594 distal arthrogryposis type 5D ISO RGD:731078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 5D PMID:18414213|PMID:23236030|PMID:23261301|PMID:24782201|PMID:25099528|PMID:25173900|PMID:25741868|PMID:26752647|PMID:28492532|PMID:31694722|PMID:32566668 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:11162 respiratory failure ISO RGD:62098 D RGD:734911|PMID:10400672 19990101 RGD 61806 Ecel1 endothelin converting enzyme-like 1 gene DOID:630 genetic disease ISO RGD:731078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31694722 61807 Foxm1 forkhead box M1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:13679865 61807 Foxm1 forkhead box M1 gene DOID:10534 stomach cancer severity ISO RGD:1604404 D RGD:151356929|PMID:25482013 20220217 RGD protein:increased expression:stomach (human) 61807 Foxm1 forkhead box M1 gene DOID:11714 gestational diabetes ISO RGD:62099 D RGD:2315927|PMID:19833884 20100115 RGD 61807 Foxm1 forkhead box M1 gene DOID:1240 leukemia ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19436953 61807 Foxm1 forkhead box M1 gene DOID:1324 lung cancer ISS RGD:62099 D RGD:13592920 20180518 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 61807 Foxm1 forkhead box M1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 61807 Foxm1 forkhead box M1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1604404 D RGD:156430321|PMID:24859161 20230224 RGD 61807 Foxm1 forkhead box M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18345025|PMID:19672312 61807 Foxm1 forkhead box M1 gene DOID:630 genetic disease ISO RGD:1604404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61807 Foxm1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604404 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:15082532|PMID:17173139|PMID:28284560 61807 Foxm1 forkhead box M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15082532 61807 Foxm1 forkhead box M1 gene DOID:9005172 Lung Neoplasms ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16489016|PMID:23255470 61807 Foxm1 forkhead box M1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604404 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 61807 Foxm1 forkhead box M1 gene DOID:9008939 Breast Neoplasms ISO RGD:1604404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20208560 61807 Foxm1 forkhead box M1 gene DOID:9352 type 2 diabetes mellitus ISS RGD:62099 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 61808 Faah fatty acid amide hydrolase gene DOID:0060001 withdrawal disorder ISO RGD:737052 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:18705688|PMID:19002671 61808 Faah fatty acid amide hydrolase gene DOID:12858 Huntington's disease ISO RGD:737052 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 61808 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:12060782|PMID:19103437 61808 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:1300311|PMID:12060782 19990101 RGD DNA:missense mutation:cds:p.P129T (human) 61808 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:1625741|PMID:16972078 20070628 RGD 61808 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polysubstance abuse, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 61808 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder susceptibility ISO RGD:737052 D RGD:7240710 20190502 OMIM 61808 Faah fatty acid amide hydrolase gene DOID:630 genetic disease ISO RGD:737052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61808 Faah fatty acid amide hydrolase gene DOID:9004702 Pregnancy Complications ISO RGD:737052 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:16886060 61808 Faah fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:11554173 20180109 CTD CTD Direct Evidence: marker/mechanism PMID:19103437|PMID:20716455 61808 Faah fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:1625726|PMID:15809662 20070627 RGD 61808 Faah fatty acid amide hydrolase gene DOID:9974 drug dependence ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Drug addiction, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 61809 Gfra2 GDNF family receptor alpha 2 gene DOID:0080855 Parkinsonism IEP D RGD:6218972|PMID:12210101 20120307 RGD mRNA:decreased expression:brain 61809 Gfra2 GDNF family receptor alpha 2 gene DOID:630 genetic disease ISO RGD:732295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61809 Gfra2 GDNF family receptor alpha 2 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:6218970|PMID:15144875 20120307 RGD 61810 Ctsk cathepsin K gene DOID:0080006 bone development disease ISO RGD:734172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:24767306|PMID:28492532|PMID:31944631 61810 Ctsk cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:62102 D RGD:734856|PMID:10469835 19990101 RGD 61810 Ctsk cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15163881 61810 Ctsk cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:7240710 20130221 OMIM 61810 Ctsk cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyknodysostosis PMID:10074491|PMID:10491211|PMID:10571690|PMID:10634420|PMID:10878663|PMID:11181082|PMID:12125807|PMID:12874701|PMID:15070910|PMID:16199547|PMID:17206399|PMID:17397052|PMID:19674475|PMID:20044043|PMID:20814951|PMID:21099701|PMID:21217630|PMID:21569238|PMID:22822386|PMID:23506830|PMID:23786531|PMID:24057333|PMID:24269275|PMID:24767306|PMID:25725806|PMID:25741868|PMID:26892377|PMID:27092432|PMID:27558267|PMID:28492532|PMID:29441215|PMID:29620724|PMID:29796728|PMID:30199612|PMID:31237352|PMID:33963797|PMID:7663522|PMID:8703060|PMID:8938428|PMID:9529353 61810 Ctsk cathepsin K gene DOID:0111940 immunodeficiency 42 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 61810 Ctsk cathepsin K gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 61810 Ctsk cathepsin K gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 61810 Ctsk cathepsin K gene DOID:10754 otitis media IEP D RGD:1342442|PMID:15179208 20070403 RGD mRNA:decreased expression:middle ear 61810 Ctsk cathepsin K gene DOID:10941 intracranial aneurysm IEP D RGD:2306495|PMID:18635848 20120131 RGD mRNA:increased expression:brain, artery 61810 Ctsk cathepsin K gene DOID:11476 osteoporosis ISO RGD:62102 D RGD:734856|PMID:10469835 19990101 RGD 61810 Ctsk cathepsin K gene DOID:13533 osteopetrosis ISO RGD:62102 D RGD:734856|PMID:10469835 19990101 RGD 61810 Ctsk cathepsin K gene DOID:1540 parathyroid carcinoma ISO RGD:734172 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 61810 Ctsk cathepsin K gene DOID:3068 glioblastoma ISO RGD:734172 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25356585 61810 Ctsk cathepsin K gene DOID:5812 MHC class II deficiency ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 61810 Ctsk cathepsin K gene DOID:630 genetic disease ISO RGD:734172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:8703060|PMID:9529353 61810 Ctsk cathepsin K gene DOID:8398 osteoarthritis ISO RGD:734172 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 61810 Ctsk cathepsin K gene DOID:9002457 Experimental Arthritis IEP D RGD:1601025|PMID:15353610 20070404 RGD mRNA:increased expression:synovium, bone marrow 61810 Ctsk cathepsin K gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734172 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61811 Fcgrt Fc gamma receptor and transporter gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:736100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 61811 Fcgrt Fc gamma receptor and transporter gene DOID:630 genetic disease ISO RGD:736100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61812 Pxmp2 peroxisomal membrane protein 2 gene DOID:630 genetic disease ISO RGD:1347054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61812 Pxmp2 peroxisomal membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1347054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 61813 Ftl1 ferritin light chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:30310229|PMID:32365221 20200624 RGD protein:increased expression:serum (human) 61813 Ftl1 ferritin light chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:32698682|PMID:32406594 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) 61813 Ftl1 ferritin light chain 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:5509859|PMID:17142829 20111109 RGD DNA:insertion:exon:460_461insA(human) 61813 Ftl1 ferritin light chain 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:5509860|PMID:18854324 20111109 RGD DNA:duplication:cds:458dupA(human) 61813 Ftl1 ferritin light chain 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:5509861|PMID:19117339 20111109 RGD DNA:mutations:exon: 61813 Ftl1 ferritin light chain 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:7240710 20131204 OMIM 61813 Ftl1 ferritin light chain 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:11438811|PMID:12746423|PMID:16116125|PMID:17182944|PMID:18413574|PMID:18414213|PMID:18854324|PMID:25741868|PMID:25832658|PMID:28492532 61813 Ftl1 ferritin light chain 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:1598966|PMID:9292547 20070109 RGD DNA:deletion:5' utr: (human) 61813 Ftl1 ferritin light chain 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:5509864|PMID:22020773 20111109 RGD DNA:mutations:5'utr: 61813 Ftl1 ferritin light chain 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:7240710 20131204 OMIM 61813 Ftl1 ferritin light chain 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:10366790|PMID:10366804|PMID:10383191|PMID:10759702|PMID:11438811|PMID:11703332|PMID:11849230|PMID:12199804|PMID:12200611|PMID:12670350|PMID:12730114|PMID:12746423|PMID:14662596|PMID:15173247|PMID:15690351|PMID:16518306|PMID:16900584|PMID:17182944|PMID:17576681|PMID:18414213|PMID:18710380|PMID:18854324|PMID:19176363|PMID:19800271|PMID:21541272|PMID:21907119|PMID:22881709|PMID:23300176|PMID:23421845|PMID:23592921|PMID:24766965|PMID:25741868|PMID:25832658|PMID:26633542|PMID:26849797|PMID:27096259|PMID:28492532|PMID:28746593|PMID:29269865|PMID:30401656|PMID:30678075|PMID:32241646|PMID:7492760|PMID:7493028|PMID:7669675|PMID:8233801|PMID:8781450|PMID:9226182|PMID:9292547|PMID:9414300|PMID:9414313|PMID:9536098|PMID:9726965 61813 Ftl1 ferritin light chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:5509840|PMID:15099026 20111108 RGD DNA:insertion:exon:498_499InsTC (human) 61813 Ftl1 ferritin light chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:5509863|PMID:19519778 20111109 RGD DNA:insertion:exon:498_499insTC 61813 Ftl1 ferritin light chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 61813 Ftl1 ferritin light chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:5509863|PMID:19519778 20111109 RGD protein:increased expression:brain 61813 Ftl1 ferritin light chain 1 gene DOID:1596 depressive disorder ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 61813 Ftl1 ferritin light chain 1 gene DOID:2351 iron metabolism disease ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16822677 61813 Ftl1 ferritin light chain 1 gene DOID:630 genetic disease ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23940258|PMID:28492532 61813 Ftl1 ferritin light chain 1 gene DOID:679 basal ganglia disease ISO RGD:1346340 D RGD:5509839|PMID:11438811 20111108 RGD DNA:insertion:exon:460_461insA(human) 61813 Ftl1 ferritin light chain 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1346340 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 61813 Ftl1 ferritin light chain 1 gene DOID:8398 osteoarthritis ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 61813 Ftl1 ferritin light chain 1 gene DOID:9000058 Keloid ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 61813 Ftl1 ferritin light chain 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 61813 Ftl1 ferritin light chain 1 gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1346340 D RGD:11554173 20200324 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 61813 Ftl1 ferritin light chain 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 61813 Ftl1 ferritin light chain 1 gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:7240710 20140911 OMIM 61813 Ftl1 ferritin light chain 1 gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive PMID:15173247|PMID:17182944|PMID:18414213|PMID:23940258|PMID:25741868|PMID:28492532|PMID:30678075 61813 Ftl1 ferritin light chain 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1346340 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 61813 Ftl1 ferritin light chain 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:62105 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 61813 Ftl1 ferritin light chain 1 gene DOID:9970 obesity ISO RGD:1346340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1349650 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10528859 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1349650 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1546315|PMID:10528859 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1349650 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:7240710 20140911 OMIM 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:32860008|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:630 genetic disease ISO RGD:1349650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1349650 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:7240710 20140911 OMIM 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21392394|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:7931872|PMID:9452066|PMID:9585609 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1546315 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:62106 D RGD:13207456|PMID:9382874 20170801 RGD 61814 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:62106 D RGD:13207457|PMID:9288097 20170801 RGD 61815 Npvf neuropeptide VF precursor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350677 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61815 Npvf neuropeptide VF precursor gene DOID:630 genetic disease ISO RGD:1350677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61816 Actn4 actinin alpha 4 gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:735302 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:16251236|PMID:18594871|PMID:19956976|PMID:21680739|PMID:22732337|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532 61816 Actn4 actinin alpha 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 61816 Actn4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:7240710 20180221 OMIM 61816 Actn4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 PMID:10700177|PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22351778|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26301083|PMID:26346198|PMID:26467025|PMID:26740551|PMID:27535533|PMID:28492532|PMID:29869118|PMID:30406062 61816 Actn4 actinin alpha 4 gene DOID:1184 nephrotic syndrome ISO RGD:735302 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 61816 Actn4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735302 D RGD:11554173 20180227 CTD CTD Direct Evidence: marker/mechanism 61816 Actn4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29869118 61816 Actn4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis susceptibility ISO RGD:735302 D RGD:1598731|PMID:10700177 20061216 RGD 61816 Actn4 actinin alpha 4 gene DOID:305 carcinoma ISO RGD:735302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 61816 Actn4 actinin alpha 4 gene DOID:557 kidney disease ISO RGD:735302 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:19142020|PMID:25741868|PMID:26467025|PMID:28492532 61816 Actn4 actinin alpha 4 gene DOID:630 genetic disease ISO RGD:735302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61816 Actn4 actinin alpha 4 gene DOID:784 chronic kidney disease ISO RGD:735302 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 61816 Actn4 actinin alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 61816 Actn4 actinin alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 61816 Actn4 actinin alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735302 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 61816 Actn4 actinin alpha 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:734049 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:734049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080010 bone structure disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bone structure | ClinVar Annotator: match by term: Abnormality of bone mineral density PMID:25741868 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:5688332|PMID:7723234 20120228 RGD mRNA, protein:increased expression:kidney cortex 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:5688333|PMID:7700025 20120228 RGD associated with Graft vs Host Disease 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:734049 D RGD:5688301|PMID:21354048 20120227 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080208 non-alcoholic fatty liver disease treatment IDA D RGD:2308807|PMID:17241878 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:62109 D RGD:8552713|PMID:23703580 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080547 non-alcoholic steatohepatitis ameliorates ISO RGD:62109 D RGD:127285675|PMID:28100771 20210628 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:7240710 20130221 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:734803|PMID:9295084 20120227 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:18311573|PMID:21667357|PMID:22206639|PMID:25741868|PMID:25944380|PMID:26627451|PMID:28492532|PMID:32581362|PMID:7942841|PMID:9295084|PMID:9443882 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:32166892|PMID:32235935|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22855962|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29695797|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16786509|PMID:28492532|PMID:29101475|PMID:30450527 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25106685|PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:7240710 20181017 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15235039|PMID:15241796|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24273577|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29669177|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31737030|PMID:31994750|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8349697|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31584903|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:23949819|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26478226|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30131598|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31299979|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:32981126|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:7240710 20130221 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IV PMID:10408781|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11286507|PMID:11317364|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:1770532|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18798308|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19637253|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:2511192|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29807018|PMID:30131598|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:32627857|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7942841|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8723681|PMID:8786074|PMID:8808594|PMID:8910493|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:7240710 20130221 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:10417276|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:1718984|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21488280|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:2745420|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31680973|PMID:31737030|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8786074|PMID:8808594|PMID:9007315|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:7240710 20130221 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2A | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:1511982|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:1613761|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:1864604|PMID:18704262|PMID:1874719|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:20301472|PMID:2035536|PMID:2037280|PMID:20981092|PMID:2121988|PMID:21239989|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:2220807|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2298750|PMID:2309707|PMID:23265383|PMID:2339700|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:2500431|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26264579|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28528406|PMID:28725987|PMID:28810924|PMID:2894346|PMID:2913053|PMID:29432813|PMID:29499418|PMID:29595812|PMID:3016737|PMID:30266093|PMID:30311386|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3108247|PMID:31304589|PMID:31349857|PMID:31447884|PMID:3198624|PMID:32166892|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:3403550|PMID:3667599|PMID:3722184|PMID:6702894|PMID:7695699|PMID:7816518|PMID:7881420|PMID:7942841|PMID:8097422|PMID:8100209|PMID:8100856|PMID:8218237|PMID:8364588|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:8950680|PMID:9016532|PMID:9067755|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:17211858|PMID:23265383|PMID:25741868|PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:1067 open-angle glaucoma ISO RGD:62109 D RGD:8552673|PMID:15161848 20140424 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:10763 hypertension ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11088 asphyxia neonatorum ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxia neonatorum PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:11041180|PMID:19143970 20160323 RGD associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:7240710 20130221 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL PMID:10931857|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26467025|PMID:27132807|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis susceptibility ISO RGD:734049 D RGD:10045665|PMID:23137636 20150615 RGD DNA:SNP, haplotype:intron:g.2046G>T (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:734049 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 61817 Col1a1 collagen type I alpha 1 chain gene DOID:11830 myopia ISO RGD:62109 D RGD:8552656|PMID:22690110 20140423 RGD mRNA:decreased expression:sclera (mouse) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12185 otosclerosis susceptibility ISO RGD:734049 D RGD:8552658|PMID:17489845 20140423 RGD DNA:snps, haplotypes:multiple (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:8552731|PMID:20056896 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12241 beta thalassemia ISO RGD:734049 D RGD:11041179|PMID:12803121 20160323 RGD DNA:SNP 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:62109 D RGD:11571614|PMID:18248096 20161221 RGD DNA:transversion mutation:intron: 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:62109 D RGD:11571617|PMID:24443344 20161221 RGD DNA:transition mutation:splice junction: 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8757037 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:11667065|PMID:21113976 20170113 RGD DNA:deletion: : 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:11667066|PMID:21341209 20170113 RGD DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:11667068|PMID:18755172 20170113 RGD DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:734802|PMID:9448299 19990101 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8552657|PMID:22565191 20140423 RGD DNA:snp:intron:c.3207+1G>A (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:23587214|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23443412|PMID:23692737|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta severity ISO RGD:734049 D RGD:11571620|PMID:23079818 20161221 RGD DNA:mutation:exon:c.3235G>A(p.G1079S)(human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:12351 alcoholic hepatitis ISO RGD:734049 D RGD:5688335|PMID:1670041 20120228 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:62109 D RGD:11571617|PMID:24443344 20161221 RGD DNA:transition mutation:splice junction: 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10739762|PMID:11090261|PMID:11317364|PMID:11432962|PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19550437|PMID:19751715|PMID:20696291|PMID:21594610|PMID:21667357|PMID:21884818|PMID:2238087|PMID:22753364|PMID:23265383|PMID:23587214|PMID:24147872|PMID:24668929|PMID:25146735|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27380894|PMID:27510842|PMID:27519266|PMID:28102596|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31584903|PMID:32166892|PMID:32981126|PMID:33939306|PMID:34422331|PMID:34426522|PMID:7691343|PMID:7695699|PMID:8079666|PMID:8218237|PMID:8456808|PMID:8799376|PMID:9016532|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISS RGD:62109 D RGD:13592920 20180518 MouseDO OMIM:225400 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13580 cholestasis IEP D RGD:8552776|PMID:22824087 20140428 RGD mRNA:increased expression:liver (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:62109 D RGD:8552675|PMID:22094456 20140424 RGD mRNA:increased expression:liver (mouse) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13580 cholestasis treatment IDA D RGD:8552699|PMID:21274875 20140425 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:734049 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 61817 Col1a1 collagen type I alpha 1 chain gene DOID:13948 bladder neck obstruction treatment IEP D RGD:7257549|PMID:23313213 20150105 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29543232 61817 Col1a1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28492532|PMID:29543232|PMID:31584903 61817 Col1a1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:10739762|PMID:25741868|PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:1474 aggressive periodontitis ISO RGD:734049 D RGD:5688299|PMID:15081423 20120227 RGD DNA:SNP 61817 Col1a1 collagen type I alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:182 calcinosis ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 61817 Col1a1 collagen type I alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:734049 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 61817 Col1a1 collagen type I alpha 1 chain gene DOID:2377 multiple sclerosis ISO RGD:734049 D RGD:5688302|PMID:20456365 20120227 RGD mRNA:increased expression:brain 61817 Col1a1 collagen type I alpha 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734049 D RGD:5131854|PMID:15469929 20120227 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:2292195|PMID:12641779 20080414 RGD DNA:gene fusion:exon 61817 Col1a1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:5688300|PMID:22153773 20120227 RGD associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion 61817 Col1a1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis IEP D RGD:7257543|PMID:7511187 20130822 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:62109 D RGD:30309204|PMID:31838832 20200619 RGD associated with Middle East respiratory syndrome; 61817 Col1a1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis treatment ISO RGD:62109 D RGD:11041177|PMID:17579094 20160323 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:734049 D RGD:11571615|PMID:11286811 20161221 RGD associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:734049 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:17078022|PMID:19344236|PMID:24668929|PMID:25741868|PMID:25944380|PMID:27509835|PMID:28492532|PMID:29807018|PMID:7691343|PMID:7695699|PMID:8218237|PMID:9016532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:417 autoimmune disease ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 61817 Col1a1 collagen type I alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:734049 D RGD:5688336|PMID:1697606 20120228 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:11667069|PMID:15864348 20170113 RGD DNA:missense mutation:exon:c.3040C>T(p.R836C)(human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:5688296|PMID:17309652 20120227 RGD DNA:mutation:exon:3040C>T (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:7240710 20130221 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:734049 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:21863215|PMID:24239723|PMID:24321339|PMID:26396155|PMID:32659284 61817 Col1a1 collagen type I alpha 1 chain gene DOID:5199 ureteral obstruction IEP D RGD:5688341|PMID:20660018 20120228 RGD mRNA:increased expression:kidney 61817 Col1a1 collagen type I alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 61817 Col1a1 collagen type I alpha 1 chain gene DOID:5773 oral submucous fibrosis ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 61817 Col1a1 collagen type I alpha 1 chain gene DOID:5844 myocardial infarction treatment IEP D RGD:11041598|PMID:25636075 20160324 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:630 genetic disease ISO RGD:734049 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:6432 pulmonary hypertension treatment IEP D RGD:11041577|PMID:25867313 20160324 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:18028452|PMID:18272325|PMID:19550437|PMID:20696291|PMID:21594610|PMID:25146735|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:27380894|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:31584903|PMID:8079666|PMID:8456808 61817 Col1a1 collagen type I alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:734049 D RGD:11041185|PMID:25782334 20160323 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:820 myocarditis treatment ISO RGD:62109 D RGD:7241803|PMID:19246678 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:8398 osteoarthritis no_association ISO RGD:734049 D RGD:5688331|PMID:10743824 20120228 RGD DNA:SNP:intron:IVS1 61817 Col1a1 collagen type I alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:734049 D RGD:5688304|PMID:17939044 20120227 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:734049 D RGD:5688293|PMID:19180518 20120227 RGD DNA:SNP: :rs2075555 (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9000058 Keloid ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:734049 D RGD:5688297|PMID:15994869 20120227 RGD DNA:polymorphism 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease no_association ISO RGD:734049 D RGD:5688295|PMID:18694864 20120227 RGD DNA:insertion 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1601595|PMID:16009107 20081117 RGD protein:increased expression:liver 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:8552710|PMID:23958495 20140428 RGD mRNA, protein:increased expression:liver (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:5688339|PMID:20818932 20120228 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136|PMID:26435214|PMID:26739621 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:8552768|PMID:22706148 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002130 Bisphosphonate-Associated Osteonecrosis of the Jaw treatment ISO RGD:734049 D RGD:11041182|PMID:21396799 20160323 RGD associated with Multiple Myeloma 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002165 Diabetic Nephropathies IEP D RGD:8552684|PMID:22903132 20140425 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia no_association ISO RGD:734049 D RGD:8552655|PMID:18836165 20140423 RGD DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia susceptibility ISO RGD:734049 D RGD:8552654|PMID:17557158 20140423 RGD DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002278 Metabolic Bone Diseases ISO RGD:734049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002369 osteogenesis imperfecta type 2C ISO RGD:734049 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC PMID:1613761 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002589 Bone Fractures ISO RGD:734049 D RGD:734801|PMID:8432871 19990101 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9002589 Bone Fractures ISO RGD:734049 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:734049 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis IEP D RGD:156430318|PMID:27318893 20230224 RGD protein:increased expression:blood serum (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis IEP D RGD:5688337|PMID:21769867 20120228 RGD associated with Hypertension;mRNA:increased expression:heart 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis treatment IDA D RGD:8552780|PMID:19019833 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003234 Hypertensive Nephropathy IEP D RGD:2290351|PMID:17977875 20140425 RGD mRNA:increased expression:juxtamedullary cortex (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003507 Premature Birth ISO RGD:734049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9003611 Trachomatous Trichiasis ISO RGD:734049 D RGD:8552676|PMID:20375326 20140424 RGD mRNA:decreased expression:tarsal conjunctiva (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:11041187|PMID:25128628 20160323 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9004797 Fetal Nutrition Disorders IEP D RGD:155882570|PMID:23977013 20230130 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:10931857|PMID:12590186|PMID:15024692|PMID:15241796|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16879195|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:19358256|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22753364|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:27509835|PMID:27510842|PMID:27519266|PMID:28378289|PMID:28492532|PMID:28810924|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9005603 Muscle Hypotonia ISO RGD:734049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9005605 Arteriovenous Fistula IEP D RGD:8552771|PMID:16428894 20140428 RGD in Long Evans rats;mRNA:increased expression:aorta 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9005827 Spontaneous Fractures ISO RGD:734049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pathologic fracture PMID:25741868|PMID:8364588 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734049 D RGD:5688305|PMID:17187661 20120227 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:734049 D RGD:5688330|PMID:9811048 20120228 RGD DNA:SNP:intron:g.2046G>T (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:734049 D RGD:5688306|PMID:15880349 20120227 RGD DNA:SNP:intron:g.2046G>T (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006045 Dissecting Aneurysm ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8757037 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006190 Chronic Pancreatitis treatment IDA D RGD:8552779|PMID:21926544 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006325 Ventral Hernia treatment IDA D RGD:11041579|PMID:26578432 20160324 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:7240710 20201223 OMIM 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 PMID:10739762|PMID:11113887|PMID:11317364|PMID:12362985|PMID:15024745|PMID:15241796|PMID:15728585|PMID:15741671|PMID:16199547|PMID:16407265|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19491628|PMID:20981092|PMID:21594610|PMID:21667357|PMID:22206639|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24767406|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26467025|PMID:26627451|PMID:26799614|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27748872|PMID:28102596|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8456808|PMID:8613526|PMID:8808594|PMID:9016532|PMID:9295084|PMID:9443882|PMID:9536098 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:62109 D RGD:153350155|PMID:34238924 20220914 RGD mRNA:increased expression:lung (mouse) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9006836 Contracture treatment IEP D RGD:11041578|PMID:26097527 20160324 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9007329 Human Viral Hepatitis ISO RGD:734049 D RGD:5688335|PMID:1670041 20120228 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9008331 Tendon Injuries treatment IDA D RGD:8552700|PMID:20479531 20140425 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9008462 Lipodermatosclerosis ISO RGD:734049 D RGD:5688298|PMID:15727634 20120227 RGD mRNA:increased expression:dermis 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9008763 Femoral Fractures treatment IDA D RGD:8552709|PMID:12412812 20140428 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9111 cutaneous leishmaniasis ISO RGD:734049 D RGD:11041176|PMID:25562121 20160323 RGD DNA:SNPs: :rs1061237, rs2586488 (human) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:916 liver benign neoplasm onset IEP D RGD:5130894|PMID:21295105 20140425 RGD mRNA:increased expression:liver (rat) 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9281 phenylketonuria ISO RGD:734049 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9282 ocular hypertension ISO RGD:62109 D RGD:8552669|PMID:19797236 20140424 RGD 61817 Col1a1 collagen type I alpha 1 chain gene DOID:9446 cholangitis ISO RGD:734049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:1059 intellectual disability ISO RGD:731037 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:12849 autistic disorder ISO RGD:731037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19184136 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:630 genetic disease ISO RGD:731037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:670 amphetamine abuse ISO RGD:731037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:9001204 Dyspepsia ISO RGD:731037 D RGD:6480658|PMID:22014438 20120329 RGD DNA:SNP:promoter:c.-42C>T(human) 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731037 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 61818 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:9778 irritable bowel syndrome severity ISO RGD:731037 D RGD:6480659|PMID:21420406 20120329 RGD DNA:SNP:promoter:c.-42C>T(human) 61819 Pdpn podoplanin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61819 Pdpn podoplanin gene DOID:11394 adult respiratory distress syndrome IEP D RGD:2292244|PMID:11790662 20080416 RGD 61819 Pdpn podoplanin gene DOID:12215 oligohydramnios IEP D RGD:2292243|PMID:11839536 20080416 RGD mRNA, protein:decreased expression:lung 61819 Pdpn podoplanin gene DOID:1790 malignant mesothelioma ISO RGD:1606573 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 61819 Pdpn podoplanin gene DOID:2527 nephrosis IEP D RGD:632934|PMID:9327748 20080417 RGD mRNA, protein:decreased expression:glomerulus 61819 Pdpn podoplanin gene DOID:3068 glioblastoma ISO RGD:1606573 D RGD:2292241|PMID:16979138 20080416 RGD 61819 Pdpn podoplanin gene DOID:3304 germinoma ISO RGD:1606573 D RGD:2292236|PMID:16718353 20080416 RGD 61819 Pdpn podoplanin gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1606573 D RGD:2292237|PMID:16528371 20080416 RGD 61819 Pdpn podoplanin gene DOID:4440 seminoma ISO RGD:1606573 D RGD:2292234|PMID:17951198 20080416 RGD 61819 Pdpn podoplanin gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1606573 D RGD:2292239|PMID:18291512 20080416 RGD 61819 Pdpn podoplanin gene DOID:630 genetic disease ISO RGD:1606573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61819 Pdpn podoplanin gene DOID:8719 in situ carcinoma ISO RGD:1606573 D RGD:2292235|PMID:16736189 20080416 RGD mRNA:increased expression:testis 61819 Pdpn podoplanin gene DOID:874 bacterial pneumonia IEP D RGD:2292375|PMID:7864138 20080417 RGD protein:increased expression:lung 61819 Pdpn podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:2292231|PMID:18165897 20080416 RGD associated with Breast Neoplasms 61819 Pdpn podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:2292237|PMID:16528371 20080416 RGD associated with Cervix Neoplasms 61819 Pdpn podoplanin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1606573 D RGD:2292235|PMID:16736189 20080416 RGD mRNA:increased expression:testis 61819 Pdpn podoplanin gene DOID:9001542 Albuminuria IEP D RGD:2292240|PMID:18199599 20080416 RGD 61819 Pdpn podoplanin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606573 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 61819 Pdpn podoplanin gene DOID:9005372 Inflammation IEP D RGD:2292242|PMID:15849211 20080416 RGD protein:decreased expression:lung 61819 Pdpn podoplanin gene DOID:9007480 Hyperoxia IEP D RGD:1302251|PMID:12922978 20080416 RGD protein:increased tyrosine nitration:lung 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:0080000 muscular disease ISO RGD:730958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:1059 intellectual disability ISO RGD:730958 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:1574 alcohol use disorder susceptibility ISO RGD:730958 D RGD:6480660|PMID:20838391 20120329 RGD DNA:SNP:cds:rs1176744(human) 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:1596 depressive disorder susceptibility ISO RGD:730958 D RGD:6480662|PMID:16487942 20120329 RGD 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:630 genetic disease ISO RGD:730958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:9000641 Pain ISO RGD:730958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730958 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 61820 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:730958 D RGD:6480660|PMID:20838391 20120329 RGD DNA:SNP:cds:rs1176744(human) 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:0080600 COVID-19 ISO RGD:736539 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:10283 prostate cancer ISO RGD:736539 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:736539 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:736539 D RGD:1579943|PMID:15745937 20081028 RGD mRNA:decreased expression:endometrium 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:5223 infertility ISO RGD:736539 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Infertility PMID:23265383 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:630 genetic disease ISO RGD:736539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 61821 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:65 connective tissue disease ISO RGD:736539 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0050753 cerebellar ataxia ISO RGD:731912 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:19289823|PMID:19420365|PMID:20651251|PMID:20807765|PMID:32581362 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0060178 familial hemiplegic migraine ISO RGD:731912 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:7240710 20131030 OMIM 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome PMID:19289823|PMID:19420365|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:21849804|PMID:22612257|PMID:22782654|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:28747464|PMID:28835827|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30733538|PMID:32062759|PMID:32233732|PMID:32581362|PMID:33084218 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:8662866|PMID:19420365 20140625 RGD DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human) 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0060744 Pendred syndrome ISO RGD:731912 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0060744 Pendred syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23924083|PMID:24193250|PMID:24561201|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:32062759 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:7240710 20130221 OMIM 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:19289823|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23918157|PMID:23924083|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:30733538|PMID:32062759|PMID:32233732 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:10003 sensorineural hearing loss IEP D RGD:7349365|PMID:23827367 20130923 RGD protein:decreased expression:cochlea: 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:1059 intellectual disability ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23869231|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27677466|PMID:27875746|PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:1206 Rett syndrome ISO RGD:62113 D RGD:8662896|PMID:21307341 20140626 RGD protein:increased expression:locus ceruleus 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:12849 autistic disorder ISO RGD:731912 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autism PMID:21458570|PMID:23965030|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:13141 uveitis IEP D RGD:8662881|PMID:17356517 20140626 RGD mRNA, protein:decreased expression:retina 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:731912 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21458570|PMID:23965030|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:24378235|PMID:26467025|PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:224 transient cerebral ischemia IEP D RGD:8662899|PMID:20833221 20140626 RGD protein:decreased expression:CA1 field of hippocampus, astrocyte, astrocyte projection 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:2377 multiple sclerosis ISO RGD:731912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24070676 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:2548 reflex epilepsy treatment IEP D RGD:14995940|PMID:30813600 20191105 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:2661 myoepithelioma ISO RGD:731912 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:3213 demyelinating disease ISO RGD:62113 D RGD:8662892|PMID:24070676 20140626 RGD protein:increased expression:cerebral cortex, blood vessel 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:8662893|PMID:22987392 20140626 RGD protein:decreased expression:brainstem 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:574 peripheral nervous system disease ISO RGD:731912 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:630 genetic disease ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:29191078|PMID:29615871|PMID:30304693|PMID:32062759|PMID:32233732 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:7725 epilepsy with generalized tonic-clonic seizures IEP D RGD:8662897|PMID:23603404 20140626 RGD protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:8466 retinal degeneration IEP D RGD:8662888|PMID:22055109 20140626 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:870 neuropathy ISO RGD:731912 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:8947 diabetic retinopathy treatment IDA D RGD:8662869|PMID:21672350 20140625 RGD associated with Diabetes Mellitus, Experimental 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:8947 diabetic retinopathy treatment IEP D RGD:8662907|PMID:22143324 20140626 RGD associated with Diabetes Mellitus, Experimental 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:8662905|PMID:20375134 20140626 RGD protein:decreased expression:spinal cord 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:8662908|PMID:22420318 20140626 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9000998 Brain Injuries IEP D RGD:8662901|PMID:20861444 20140626 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:8662868|PMID:16330144 20140625 RGD mRNA:decreased expression:retina 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:62113 D RGD:8662890|PMID:20132867 20140626 RGD protein:decreased expression:retina, blood vessel 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9004538 Hearing Loss ISO RGD:731912 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:26467025|PMID:27171548|PMID:28492532 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9004590 Acute Liver Failure IEP D RGD:8662894|PMID:21538466 20140626 RGD mRNA, protein:decreased expression:cerebral cortex 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9006534 Nervous System Malformations ISO RGD:731912 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:2326035|PMID:20216911 20100617 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9008681 Deafness ISO RGD:62113 D RGD:8662867|PMID:12618319 20140625 RGD 61822 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731912 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61823 Rnase4 ribonuclease A family member 4 gene DOID:0060200 amyotrophic lateral sclerosis type 9 ISO RGD:736007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9 PMID:16501576|PMID:17462671|PMID:17703939|PMID:17886298|PMID:17900154|PMID:18087731|PMID:18852347|PMID:19153377|PMID:19363631|PMID:19444281|PMID:19449021|PMID:19488901|PMID:20577002|PMID:22190368|PMID:22292843|PMID:22384259|PMID:22499346|PMID:22522484|PMID:22645277|PMID:22722621|PMID:23047679|PMID:23155438|PMID:23393617|PMID:23447461|PMID:23463871|PMID:23665167|PMID:25382069|PMID:25741868|PMID:26255299|PMID:26467025|PMID:26551617|PMID:26777436|PMID:28444446|PMID:28492532|PMID:29525178|PMID:30188356|PMID:31368019|PMID:31432357|PMID:32111867|PMID:32579787|PMID:32951934 61823 Rnase4 ribonuclease A family member 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:17703939|PMID:18087731|PMID:22190368|PMID:25741868|PMID:28492532 61823 Rnase4 ribonuclease A family member 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736007 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 61823 Rnase4 ribonuclease A family member 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:736007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 61823 Rnase4 ribonuclease A family member 4 gene DOID:630 genetic disease ISO RGD:736007 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61823 Rnase4 ribonuclease A family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 61823 Rnase4 ribonuclease A family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 61823 Rnase4 ribonuclease A family member 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736007 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 61823 Rnase4 ribonuclease A family member 4 gene DOID:9255 frontotemporal dementia ISO RGD:736007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 61824 Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 gene DOID:0050758 metabolic acidosis IMP D RGD:38500203|PMID:30605394 20201210 RGD compared to SS/JrHsdMcwi 61824 Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 gene DOID:4500 hypokalemia IMP D RGD:38500204|PMID:28931751 20200813 RGD protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) 61824 Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:7240710 20210825 OMIM 61824 Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:8554872 20210824 ClinVar ClinVar Annotator: match by term: HYPOKALEMIC TUBULOPATHY AND DEAFNESS PMID:33811157 61824 Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 gene DOID:9008852 Respiratory Underresponsiveness to Hypoxia and Hypercapnia IMP D RGD:38500203|PMID:30605394 20201210 RGD compared to SS/JrHsdMcwi 61825 Tcea2 transcription elongation factor A2 gene DOID:630 genetic disease ISO RGD:731353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61825 Tcea2 transcription elongation factor A2 gene DOID:9119 acute myeloid leukemia ISO RGD:731353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 61826 Chkb choline kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 61826 Chkb choline kinase beta gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1604071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 61826 Chkb choline kinase beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604071 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 61826 Chkb choline kinase beta gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1604071 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 61826 Chkb choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:7240710 20141015 OMIM 61826 Chkb choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:16199547|PMID:17576681|PMID:21665002|PMID:23692895|PMID:23945283|PMID:24997086|PMID:25326635|PMID:25326637|PMID:25740612|PMID:25741868|PMID:26467025|PMID:26782016|PMID:28492532|PMID:33712684|PMID:7767093|PMID:9427222|PMID:9536098 61826 Chkb choline kinase beta gene DOID:10581 metachromatic leukodystrophy ISO RGD:1604071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 61826 Chkb choline kinase beta gene DOID:1059 intellectual disability ISO RGD:1604071 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61826 Chkb choline kinase beta gene DOID:1826 epilepsy ISO RGD:1604071 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 61826 Chkb choline kinase beta gene DOID:630 genetic disease ISO RGD:1604071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61826 Chkb choline kinase beta gene DOID:8619 recurrent hypersomnia susceptibility ISO RGD:1604071 D RGD:6483442|PMID:19404393 20120522 RGD DNA:SNP: :rs5770917 (human) 61826 Chkb choline kinase beta gene DOID:8986 narcolepsy ISO RGD:1604071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 61826 Chkb choline kinase beta gene DOID:8986 narcolepsy susceptibility ISO RGD:1604071 D RGD:6483443|PMID:18820697 20120522 RGD DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human) 61826 Chkb choline kinase beta gene DOID:9884 muscular dystrophy ISO RGD:1604071 D RGD:6483361|PMID:21665002 20120521 RGD DNA:nonsense mutations, missense mutations, deletion:multiple 61826 Chkb choline kinase beta gene DOID:9884 muscular dystrophy ISO RGD:1604071 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 61826 Chkb choline kinase beta gene DOID:9884 muscular dystrophy ISO RGD:62117 D RGD:6483363|PMID:21750112 20120521 RGD DNA:deletion 61827 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:10763 hypertension IEP D RGD:1627659|PMID:11358947 20150224 RGD mRNA:increased expression:aorta, arteries (rat) 61827 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:3328 temporal lobe epilepsy susceptibility ISO RGD:1607081 D RGD:9743959|PMID:21333500 20150224 RGD DNA:snps, haplotypes:multiple (human) 61827 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:1607081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61827 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:9002669 Hypoxia ISO RGD:62118 D RGD:9743958|PMID:15890701 20150224 RGD mRNA:decreased expression:carotid body (mouse) 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISS RGD:62119 D RGD:13592920 20180518 MouseDO OMIM:607872 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:1826 epilepsy ISO RGD:1354203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11580756 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:1826 epilepsy ISO RGD:1354203 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1354203 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61828 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354203 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61829 Ptma prothymosin alpha gene DOID:0060476 Perlman syndrome ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 61829 Ptma prothymosin alpha gene DOID:0080322 polycystic kidney disease ISS RGD:62120 D RGD:13592920 20190530 MouseDO 61829 Ptma prothymosin alpha gene DOID:0110991 Joubert syndrome 22 ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 61829 Ptma prothymosin alpha gene DOID:3247 rhabdomyosarcoma ISO RGD:733876 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 61829 Ptma prothymosin alpha gene DOID:630 genetic disease ISO RGD:733876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61829 Ptma prothymosin alpha gene DOID:657 adenoma ISO RGD:733876 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10822126 61829 Ptma prothymosin alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733876 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10822126 61829 Ptma prothymosin alpha gene DOID:9452 fatty liver disease ISO RGD:733876 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15885234 61829 Ptma prothymosin alpha gene DOID:9675 pulmonary emphysema ISS RGD:62120 D RGD:13592920 20190530 MouseDO OMIM:130700 61830 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 61830 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1350747 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 61830 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 61830 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 61830 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 61830 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61831 Treh trehalase gene DOID:0060017 CD3epsilon deficiency ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 61831 Treh trehalase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 61831 Treh trehalase gene DOID:0080690 RASopathy ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 61831 Treh trehalase gene DOID:0081330 glycogen storage disease Ib ISO RGD:736593 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 61831 Treh trehalase gene DOID:0110651 long QT syndrome 10 ISO RGD:736593 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 61831 Treh trehalase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 61831 Treh trehalase gene DOID:0111971 immunodeficiency 18 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 61831 Treh trehalase gene DOID:0111972 immunodeficiency 19 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 61831 Treh trehalase gene DOID:0111973 immunodeficiency 17 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 61831 Treh trehalase gene DOID:630 genetic disease ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 61831 Treh trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:7240710 20130221 OMIM 61831 Treh trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency PMID:25741868|PMID:28406212 61831 Treh trehalase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736593 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 61831 Treh trehalase gene DOID:9007661 Dwarfism ISO RGD:736593 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 61832 Atn1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:7240710 20180725 OMIM 61832 Atn1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy PMID:25741868 61832 Atn1 atrophin 1 gene DOID:0060246 MASA syndrome ISO RGD:1352790 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25741868 61832 Atn1 atrophin 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 61832 Atn1 atrophin 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 61832 Atn1 atrophin 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352790 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 61832 Atn1 atrophin 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 61832 Atn1 atrophin 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1352790 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 61832 Atn1 atrophin 1 gene DOID:5419 schizophrenia ISO RGD:1352790 D RGD:1358440|PMID:9184318 19990101 RGD 61832 Atn1 atrophin 1 gene DOID:630 genetic disease ISO RGD:1352790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:30827498 61832 Atn1 atrophin 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352790 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:10814707 61832 Atn1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:7240710 20190814 OMIM 61832 Atn1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies PMID:17067864|PMID:25741868|PMID:30827498 61832 Atn1 atrophin 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352790 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 61833 Nrgn neurogranin gene DOID:0110877 holoprosencephaly 11 ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 61833 Nrgn neurogranin gene DOID:0111723 Jacobsen Syndrome ISO RGD:733655 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 61833 Nrgn neurogranin gene DOID:10652 Alzheimer's disease ISO RGD:733655 D RGD:9835394|PMID:9329454 20150323 RGD 61833 Nrgn neurogranin gene DOID:11832 visual epilepsy IEP D RGD:9685329|PMID:11054811 20150325 RGD 61833 Nrgn neurogranin gene DOID:1459 hypothyroidism IEP D RGD:9835423|PMID:20041985 20150325 RGD protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn 61833 Nrgn neurogranin gene DOID:1459 hypothyroidism treatment IEP D RGD:9835430|PMID:16004982 20150325 RGD 61833 Nrgn neurogranin gene DOID:5419 schizophrenia ISO RGD:733655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17140601 61833 Nrgn neurogranin gene DOID:5419 schizophrenia ISO RGD:733655 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61833 Nrgn neurogranin gene DOID:630 genetic disease ISO RGD:733655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61833 Nrgn neurogranin gene DOID:9001234 Prenatal Exposure Delayed Effects IEP D RGD:9835426|PMID:17579784 20150325 RGD 61833 Nrgn neurogranin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733655 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 61833 Nrgn neurogranin gene DOID:9007661 Dwarfism ISO RGD:733655 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 61833 Nrgn neurogranin gene DOID:9007980 Sleep Deprivation IEP D RGD:9835425|PMID:7583240 20150325 RGD 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731891 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:5062 phencyclidine abuse ISO RGD:731891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:630 genetic disease ISO RGD:731891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:83 cataract IAGP D RGD:1626611|PMID:16440058 20070813 RGD 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731891 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:7240710 20190626 OMIM 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962|PMID:32027475 61834 Fdft1 farnesyl diphosphate farnesyl transferase 1 gene DOID:9505 cannabis abuse ISO RGD:731891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:0050700 cardiomyopathy IEP D RGD:2302065|PMID:19000375 20081117 RGD associated with Diabetes Mellitus, Experimental 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISS RGD:62126 D RGD:13592920 20180518 MouseDO 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:12361 Graves' disease ISO RGD:735951 D RGD:1580387|PMID:15497458 19990101 RGD 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:6000 congestive heart failure IEP D RGD:2302075|PMID:17637193 20081118 RGD associated with Shock, Septic 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:630 genetic disease ISO RGD:735951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:9000064 Cardiac Arrhythmias IEP D RGD:2302073|PMID:18570278 20081118 RGD associated with Myocardial Infarction 61835 Fkbp1b FKBP prolyl isomerase 1B gene DOID:9000184 Ventricular Fibrillation IEP D RGD:2302077|PMID:17506935 20081118 RGD associated with Myocardial Reperfusion Injury 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:7240710 20180117 OMIM 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 PMID:11468688|PMID:11741829|PMID:14584882|PMID:15111300|PMID:1516225|PMID:16118345|PMID:17164308|PMID:17576681|PMID:19238435|PMID:19543743|PMID:19953639|PMID:20301306|PMID:21527911|PMID:21947783|PMID:21962762|PMID:23296056|PMID:23983121|PMID:25741868|PMID:26056022|PMID:26365571|PMID:28492532|PMID:29620724|PMID:30229577|PMID:30942407|PMID:31412925|PMID:32369273|PMID:32552793|PMID:32860008|PMID:9536098 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:7240710 20141216 OMIM 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 PMID:11207362|PMID:11468688|PMID:11741829|PMID:1516225|PMID:16118345|PMID:16234969|PMID:17033731|PMID:19953639|PMID:199553639|PMID:20301306|PMID:21947783|PMID:23296056|PMID:25741868|PMID:26056022|PMID:28492532|PMID:30229577 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:13533 osteopetrosis ISO RGD:62127 D RGD:737783|PMID:11207362 19990101 RGD 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:13533 osteopetrosis ISO RGD:731480 D RGD:11554173 20180123 CTD CTD Direct Evidence: marker/mechanism 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:13533 osteopetrosis ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25410126|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:1826 epilepsy ISO RGD:731480 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731480 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:4254 osteosclerosis ISO RGD:731480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31085352|PMID:31412925|PMID:32369273 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:630 genetic disease ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11741829|PMID:14584882|PMID:17164308|PMID:19543743|PMID:20424301|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:65 connective tissue disease ISO RGD:731480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:8466 retinal degeneration ISO RGD:62127 D RGD:737783|PMID:11207362 19990101 RGD 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:9000641 Pain IEP D RGD:1600865|PMID:11846422 20070328 RGD mRNA:increased expression:spinal cord dorsal horn 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:7240710 20191009 OMIM 61836 Clcn7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development PMID:25741868|PMID:28492532|PMID:31155284 61837 Cd200r1 CD200 receptor 1 gene DOID:630 genetic disease ISO RGD:1606724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61837 Cd200r1 CD200 receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61838 Tgm1 transglutaminase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:731987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:10482949|PMID:10914678|PMID:11407995|PMID:11511296|PMID:14996130|PMID:16968736|PMID:18948357|PMID:19212342|PMID:19241467|PMID:19262603|PMID:19863506|PMID:19890349|PMID:20167857|PMID:20663883|PMID:21895619|PMID:22258055|PMID:22801880|PMID:23096117|PMID:23278109|PMID:23895935|PMID:24033266|PMID:24314425|PMID:24419105|PMID:25154629|PMID:25525159|PMID:25741868|PMID:25766764|PMID:26076875|PMID:26594337|PMID:26762237|PMID:27025581|PMID:28403434|PMID:28492532|PMID:30578701|PMID:30693114|PMID:31046801|PMID:31168818|PMID:31631373|PMID:31953843|PMID:32105361|PMID:32573669|PMID:32597326|PMID:33786896|PMID:34782754|PMID:7581379|PMID:7824952|PMID:9178327|PMID:9261103|PMID:9326318|PMID:9359043|PMID:9545389|PMID:9593710|PMID:9887377 61838 Tgm1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:1599417|PMID:7824952 20070201 RGD 61838 Tgm1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:7240710 20131030 OMIM 61838 Tgm1 transglutaminase 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:10232404|PMID:10482949|PMID:10694685|PMID:10886517|PMID:10914678|PMID:11251583|PMID:11298529|PMID:11348475|PMID:11407995|PMID:11511296|PMID:12535215|PMID:12542526|PMID:14996130|PMID:16133457|PMID:16199547|PMID:16280294|PMID:16908342|PMID:16968736|PMID:16977323|PMID:17635512|PMID:18669893|PMID:18948357|PMID:19156839|PMID:19212342|PMID:19241467|PMID:19262603|PMID:19278426|PMID:19500103|PMID:19863506|PMID:19890349|PMID:20021785|PMID:20137757|PMID:20167857|PMID:20301779|PMID:20522418|PMID:20663883|PMID:21199492|PMID:21668430|PMID:21895619|PMID:22211879|PMID:22258055|PMID:22311480|PMID:22437313|PMID:22511925|PMID:22622417|PMID:22801880|PMID:22992804|PMID:23096117|PMID:23192619|PMID:23278109|PMID:23621129|PMID:23689228|PMID:23895935|PMID:24033266|PMID:24314425|PMID:24419105|PMID:24824130|PMID:25154629|PMID:25525159|PMID:25741868|PMID:25766764|PMID:25998749|PMID:26076875|PMID:26220141|PMID:26594337|PMID:26620441|PMID:26762237|PMID:26990434|PMID:27025581|PMID:27442430|PMID:28403434|PMID:28488422|PMID:28492532|PMID:28747283|PMID:30578701|PMID:30600594|PMID:30693114|PMID:30950025|PMID:31046801|PMID:31168818|PMID:31631373|PMID:31953843|PMID:32105361|PMID:32573669|PMID:32597326|PMID:33786896|PMID:34782754|PMID:7581379|PMID:7773290|PMID:7824952|PMID:9178327|PMID:9261103|PMID:9326318|PMID:9359043|PMID:9545389|PMID:9593710|PMID:9887377 61838 Tgm1 transglutaminase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:0070018 autosomal dominant dyskeratosis congenita 3 ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:0070026 Revesz syndrome ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Revesz syndrome PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:10140 dry eye syndrome ISO RGD:731987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16146918 61838 Tgm1 transglutaminase 1 gene DOID:1697 ichthyosis ISO RGD:731987 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:25741868 61838 Tgm1 transglutaminase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731987 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18669893|PMID:20301779|PMID:21199492|PMID:22211879|PMID:25741868|PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:3602 toxic encephalopathy ISO RGD:731987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 61838 Tgm1 transglutaminase 1 gene DOID:409 liver disease ISO RGD:731987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 61838 Tgm1 transglutaminase 1 gene DOID:630 genetic disease ISO RGD:731987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:731987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 61838 Tgm1 transglutaminase 1 gene DOID:9001341 Chloracne ISO RGD:731987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 61838 Tgm1 transglutaminase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731987 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 61838 Tgm1 transglutaminase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:731987 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16146918 61839 Luzp1 leucine zipper protein 1 gene DOID:630 genetic disease ISO RGD:736317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61839 Luzp1 leucine zipper protein 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 61840 Slc28a2 solute carrier family 28 member 2 gene DOID:0050712 AGAT deficiency ISO RGD:732572 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 61840 Slc28a2 solute carrier family 28 member 2 gene DOID:2717 Bloom syndrome ISO RGD:732572 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61840 Slc28a2 solute carrier family 28 member 2 gene DOID:630 genetic disease ISO RGD:732572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61840 Slc28a2 solute carrier family 28 member 2 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2317455|PMID:16014043 20100406 RGD 61840 Slc28a2 solute carrier family 28 member 2 gene DOID:9256 colorectal cancer ISO RGD:732572 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 61841 Psma1 proteasome 20S subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:733996 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61841 Psma1 proteasome 20S subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61842 Psma2 proteasome 20S subunit alpha 2 gene DOID:114 heart disease ISO RGD:732886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 61842 Psma2 proteasome 20S subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:732886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 61842 Psma2 proteasome 20S subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732886 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61843 Ybx1 Y box binding protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732883 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 61843 Ybx1 Y box binding protein 1 gene DOID:5844 myocardial infarction IEP D RGD:1580630|PMID:16002047 19990101 RGD 61843 Ybx1 Y box binding protein 1 gene DOID:630 genetic disease ISO RGD:732883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61843 Ybx1 Y box binding protein 1 gene DOID:9000300 Refractory Anemia ISO RGD:732883 D RGD:1580637|PMID:14604279 19990101 RGD 61843 Ybx1 Y box binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732883 D RGD:11554173 20171226 CTD CTD Direct Evidence: therapeutic PMID:16012952 61843 Ybx1 Y box binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732883 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:28077578 61843 Ybx1 Y box binding protein 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732883 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 61843 Ybx1 Y box binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732883 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 61844 Psma3 proteasome 20S subunit alpha 3 gene DOID:0050553 JMP syndrome ISO RGD:732188 D RGD:8554872 20180821 ClinVar ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC PMID:21953331|PMID:26524591 61844 Psma3 proteasome 20S subunit alpha 3 gene DOID:0110992 Joubert syndrome 23 ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 61844 Psma3 proteasome 20S subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:0050855 renal fibrosis treatment ISO RGD:736290 D RGD:13506791|PMID:24844766 20180209 RGD associated with ureteral obstruction 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:1074 kidney failure treatment ISO RGD:736290 D RGD:9685774|PMID:18929838 20150127 RGD associated with liver transplant; 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:11383 cryptorchidism IEP D RGD:9685739|PMID:17918708 20150126 RGD protein:decreased expression:male germ cell: 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:1826 epilepsy ISO RGD:736290 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736290 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure IEP D RGD:9685736|PMID:20030531 20150126 RGD protein:increased expression:cortex of kidney,renal medulla: 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:736290 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20030531 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure treatment IDA D RGD:9685736|PMID:20030531 20150126 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:5199 ureteral obstruction IEP D RGD:13506791|PMID:24844766 20150123 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:630 genetic disease ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26944241|PMID:28155230|PMID:28492532|PMID:8627443 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:700 mitochondrial metabolism disease ISO RGD:736290 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:28812649 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736290 D RGD:9685741|PMID:22246190 20150126 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9001708 Hemorrhagic Shock ISO RGD:62137 D RGD:9685733|PMID:23073658 20150126 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9004283 Transplant Rejection IEP D RGD:9685732|PMID:22819311 20150126 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9004484 Sepsis IEP D RGD:9685733|PMID:23073658 20150126 RGD protein:increased expression:serum: 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure ISO RGD:736290 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15968720 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure treatment ISO RGD:736290 D RGD:9685775|PMID:23337881 20150127 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:736290 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15968720 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9005930 Endotoxemia IEP D RGD:9685733|PMID:23073658 20150126 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9685723|PMID:20332418 20150123 RGD protein:increased expression:kidney: 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:736290 D RGD:9685723|PMID:20332418 20150123 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:7240710 20130221 OMIM 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay PMID:16199547|PMID:18414213|PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26757139|PMID:26944241|PMID:28155230|PMID:28492532|PMID:28812649|PMID:28939701|PMID:8627443 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IDA D RGD:9685727|PMID:15968720 20150123 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736290 D RGD:9685722|PMID:22033404 20150123 RGD 61845 Gfer growth factor, augmenter of liver regeneration gene DOID:9008691 Liver Injury IEP D RGD:9685725|PMID:24880092 20150123 RGD 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:2717 Bloom syndrome ISO RGD:735266 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:305 carcinoma ISO RGD:735266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:630 genetic disease ISO RGD:735266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:9007188 Liver Neoplasms ISO RGD:735266 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 61846 Psma4 proteasome 20S subunit alpha 4 gene DOID:9256 colorectal cancer ISO RGD:735266 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 61847 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1184 nephrotic syndrome IEP D RGD:2313652|PMID:18614621 20091006 RGD 61847 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1909 melanoma ISO RGD:1345985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 61847 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:630 genetic disease ISO RGD:1345985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61847 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61847 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1345985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 61847 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9970 obesity IEP D RGD:2313659|PMID:9032096 20091007 RGD mRNA:increased expression:pancreatic islet 61848 Psma5 proteasome 20S subunit alpha 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:734293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 61848 Psma5 proteasome 20S subunit alpha 5 gene DOID:11476 osteoporosis ISO RGD:734293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 61848 Psma5 proteasome 20S subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:734293 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61848 Psma5 proteasome 20S subunit alpha 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:734293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 61848 Psma5 proteasome 20S subunit alpha 5 gene DOID:630 genetic disease ISO RGD:734293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61848 Psma5 proteasome 20S subunit alpha 5 gene DOID:9452 fatty liver disease ISO RGD:734293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:736338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction ISO RGD:736338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16845397 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction ISO RGD:736338 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:16845397|PMID:19282875 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction susceptibility ISO RGD:736338 D RGD:7240710 20190502 OMIM 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:630 genetic disease ISO RGD:736338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61849 Psma6 proteasome 20S subunit alpha 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 61850 F10 coagulation factor X gene DOID:0060903 thrombosis ISO RGD:1342967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 61850 F10 coagulation factor X gene DOID:1247 blood coagulation disease ISO RGD:1342967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:62897 61850 F10 coagulation factor X gene DOID:1588 thrombocytopenia ISO RGD:1342967 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 61850 F10 coagulation factor X gene DOID:1612 breast cancer ISO RGD:1342967 D RGD:10449101|PMID:25407022 20151217 RGD DNA:SNP: :rs3093261 (human) 61850 F10 coagulation factor X gene DOID:2213 hemorrhagic disease ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25582404|PMID:25741868|PMID:26879396|PMID:31064749|PMID:7669671 61850 F10 coagulation factor X gene DOID:2215 factor VII deficiency ISO RGD:1342967 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Factor VII deficiency PMID:10984565|PMID:12181036|PMID:25741868 61850 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:11041731|PMID:22008904 20160328 RGD DNA:deletion:cds:c.302delG(human) 61850 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:1601104|PMID:2790181 20070406 RGD DNA:point mutations:R366C;DNA:frameshift 61850 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:7240710 20130221 OMIM 61850 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY PMID:10468877|PMID:10746568|PMID:10984565|PMID:12028042|PMID:12181036|PMID:16919077|PMID:18403394|PMID:1939653|PMID:1973167|PMID:1985698|PMID:20331754|PMID:21854511|PMID:25582404|PMID:25741868|PMID:26879396|PMID:2790181|PMID:28492532|PMID:29590070|PMID:30507709|PMID:31064749|PMID:31662920|PMID:3408671|PMID:34355501|PMID:7669671|PMID:7860069|PMID:8449937|PMID:8845463|PMID:8910490|PMID:9198147 61850 F10 coagulation factor X gene DOID:5844 myocardial infarction ISO RGD:1342967 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to PMID:10984565|PMID:12181036|PMID:25741868 61850 F10 coagulation factor X gene DOID:630 genetic disease ISO RGD:1342967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61850 F10 coagulation factor X gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1342967 D RGD:11041730|PMID:22624582 20160328 RGD protein:decreased expression:plasma: 61850 F10 coagulation factor X gene DOID:9002488 Peritoneal Fibrosis IEP D RGD:7394780|PMID:19458308 20160630 RGD 61850 F10 coagulation factor X gene DOID:9008217 Hemorrhage ISO RGD:1342967 D RGD:11041766|PMID:8073392 20160329 RGD 61850 F10 coagulation factor X gene DOID:9279 hyperhomocysteinemia treatment IDA D RGD:1601105|PMID:16046705 20160121 RGD 61851 Psma7 proteasome 20S subunit alpha 7 gene DOID:630 genetic disease ISO RGD:737158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61852 Gcm1 glial cells missing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61853 Gpc1 glypican 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 61853 Gpc1 glypican 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 61853 Gpc1 glypican 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:730930 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 61853 Gpc1 glypican 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:730930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 61853 Gpc1 glypican 1 gene DOID:1059 intellectual disability ISO RGD:730930 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61853 Gpc1 glypican 1 gene DOID:630 genetic disease ISO RGD:730930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61853 Gpc1 glypican 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730930 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 61853 Gpc1 glypican 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 61854 Zranb2 zinc finger RANBP2-type containing 2 gene DOID:1059 intellectual disability ISO RGD:736628 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 61854 Zranb2 zinc finger RANBP2-type containing 2 gene DOID:630 genetic disease ISO RGD:736628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:0080431 developmental and epileptic encephalopathy 19 ISO RGD:730902 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:0080431 developmental and epileptic encephalopathy 19 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 PMID:16718694|PMID:18414213|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29655203|PMID:32047208|PMID:32238909 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:0080431 developmental and epileptic encephalopathy 19 susceptibility ISO RGD:730902 D RGD:7240710 20230505 OMIM 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:0111314 idiopathic generalized epilepsy 13 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 PMID:11992121|PMID:16530959|PMID:16569738|PMID:18414213|PMID:18534981|PMID:20551311|PMID:21714819|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:0111314 idiopathic generalized epilepsy 13 susceptibility ISO RGD:730902 D RGD:7240710 20190904 OMIM 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:10003 sensorineural hearing loss ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:730902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:13413 hepatic encephalopathy IEP D RGD:6480237|PMID:15929193 20120319 RGD mRNA:increased expression:brain 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:13413 hepatic encephalopathy ISO RGD:730902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:1825 childhood absence epilepsy ISO RGD:730902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 PMID:16718694 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:32238909|PMID:9536098 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:1827 idiopathic generalized epilepsy ISS RGD:730902 D RGD:13592920 20180518 MouseDO OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:730902 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:730902 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:4990 essential tremor ISO RGD:730902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15765150 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:5119 ovarian cyst ISO RGD:730902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16530959|PMID:16569738|PMID:18414213|PMID:21703448|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730902 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:9004866 Ataxia ISO RGD:730902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12404077 61855 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:730902 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:29422393 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:0050741 alcohol dependence ISO RGD:1349486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:29422393 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:7240710 20230517 OMIM 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 PMID:25741868|PMID:28492532|PMID:29422393|PMID:29961870|PMID:31032849 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:6480256|PMID:16080114 20120320 RGD DNA:SNP: : 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:7240710 20230517 OMIM 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alcohol dependence 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1349486 D RGD:6480257|PMID:15024690 20120320 RGD DNA:SNPs:multiple: 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:2030 anxiety disorder ISO RGD:1349486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18313124 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19833324|PMID:20133874 61856 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 gene DOID:9976 heroin dependence ISO RGD:1349486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19833324 61857 Clic4 chloride intracellular channel 4 gene DOID:630 genetic disease ISO RGD:737114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61857 Clic4 chloride intracellular channel 4 gene DOID:8398 osteoarthritis ISO RGD:737114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 61857 Clic4 chloride intracellular channel 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 61857 Clic4 chloride intracellular channel 4 gene DOID:9004657 Weight Gain ISO RGD:737114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 61857 Clic4 chloride intracellular channel 4 gene DOID:9007661 Dwarfism ISO RGD:737114 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:10825 essential hypertension ISO RGD:1606583 D RGD:1598505|PMID:15097232 20061201 RGD DNA:SNP,haplotypes:cds: 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:10825 essential hypertension susceptibility ISO RGD:1606583 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:cds: PMID:15097232|REF_RGD_ID:1598505 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1606583 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:1856 cherubism ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:630 genetic disease ISO RGD:1606583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:13792785|PMID:23196710 20180928 RGD protein:decreased expression:cortex of kidney (rat) 61858 Grk4 G protein-coupled receptor kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606583 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:0060041 autism spectrum disorder ISO RGD:736048 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27231709 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:0060041 autism spectrum disorder ISO RGD:736048 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:7240710 20190911 OMIM 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 PMID:25741868|PMID:28492532|PMID:29961870|PMID:31056671|PMID:31513310 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:11983 Prader-Willi syndrome ISO RGD:736048 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:736048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17353214 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:736048 D RGD:6480253|PMID:20066485 20120320 RGD 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:1596 depressive disorder ISO RGD:736048 D RGD:1358629|PMID:9267853 19990101 RGD DNA:repeat:: (human) 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:1826 epilepsy ISO RGD:736048 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:1932 Angelman syndrome ISO RGD:736048 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:3312 bipolar disorder ISO RGD:736048 D RGD:1358630|PMID:9514592 19990101 RGD 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:5419 schizophrenia ISO RGD:736048 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:630 genetic disease ISO RGD:736048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736048 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:9007072 Social Communication Disorder ISO RGD:736048 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27231709 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:9008023 Memory Disorders ISO RGD:736048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20180861 61859 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 61860 Gng7 G protein subunit gamma 7 gene DOID:630 genetic disease ISO RGD:1348974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61860 Gng7 G protein subunit gamma 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1348974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18219292 61860 Gng7 G protein subunit gamma 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348974 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1059 intellectual disability ISO RGD:732651 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1825 childhood absence epilepsy ISO RGD:732651 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:28492532 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1826 epilepsy ISO RGD:732651 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732651 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:3525 middle cerebral artery infarction ISO RGD:732651 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:5419 schizophrenia ISO RGD:732651 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:630 genetic disease ISO RGD:732651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9005158 Cushing Syndrome IAGP D RGD:1626491|PMID:12080446 20070809 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism 61861 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9970 obesity IAGP D RGD:1626491|PMID:12080446 20070809 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:0060001 withdrawal disorder ISO RGD:732446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12511956 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:11832 visual epilepsy ISO RGD:62154 D RGD:737715|PMID:7502080 19990101 RGD 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus IEP D RGD:13792697|PMID:25457025 20180920 RGD 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:732446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19222700 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:4481 allergic rhinitis ISO RGD:732446 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:630 genetic disease ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27352031|PMID:31300657 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9000543 Death ISO RGD:62154 D RGD:737715|PMID:7502080 19990101 RGD 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9002362 Hyperkinesis ISO RGD:732446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18171924 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004042 Olfaction Disorders ISO RGD:732446 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732446 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:7240710 20201111 OMIM 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31300657 61862 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18945913 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:1059 intellectual disability ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:11830 myopia ISO RGD:733821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:12704 ataxia telangiectasia ISO RGD:733821 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:303 substance-related disorder ISO RGD:733821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:733821 D RGD:1358642|PMID:12497607 19990101 RGD DNA:SNPs, haplotype:exon, introns: A>G (rs609239), A>G (rs641574), A>G (rs659840) (human) 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:630 genetic disease ISO RGD:733821 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:28492532|PMID:29220673 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733821 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733821 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:7240710 20190315 OMIM 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without seizures and gait abnormalities PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 61863 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9970 obesity ISO RGD:733821 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Obesity 61864 Npy4r neuropeptide Y receptor Y4 gene DOID:5419 schizophrenia ISO RGD:731662 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61864 Npy4r neuropeptide Y receptor Y4 gene DOID:630 genetic disease ISO RGD:731662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61865 Lbp lipopolysaccharide binding protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347766 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 61865 Lbp lipopolysaccharide binding protein gene DOID:0050486 exanthem ISO RGD:1347766 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 61865 Lbp lipopolysaccharide binding protein gene DOID:13603 obstructive jaundice IEP D RGD:9685190|PMID:25093541 20141223 RGD mRNA:increased expression:liver 61865 Lbp lipopolysaccharide binding protein gene DOID:2234 focal epilepsy ISO RGD:1347766 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 61865 Lbp lipopolysaccharide binding protein gene DOID:5082 liver cirrhosis IEP D RGD:2292126|PMID:17918268 20141223 RGD protein:increased expression:liver 61865 Lbp lipopolysaccharide binding protein gene DOID:630 genetic disease ISO RGD:1347766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61865 Lbp lipopolysaccharide binding protein gene DOID:824 periodontitis IEP D RGD:9685198|PMID:23730973 20141223 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:gingiva 61865 Lbp lipopolysaccharide binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 61865 Lbp lipopolysaccharide binding protein gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:9685192|PMID:12134092 20141223 RGD mRNA, protein:increased expression:liver 61865 Lbp lipopolysaccharide binding protein gene DOID:9002906 Multiple Organ Failure ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22167001 61865 Lbp lipopolysaccharide binding protein gene DOID:9004484 Sepsis ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22167001 61865 Lbp lipopolysaccharide binding protein gene DOID:9004657 Weight Gain ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 61865 Lbp lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia IEP D RGD:9685191|PMID:8418776 20141223 RGD mRNA:increased expression:hepatocyte 61865 Lbp lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia treatment ISO RGD:1347766 D RGD:9685196|PMID:8593028 20141223 RGD 61865 Lbp lipopolysaccharide binding protein gene DOID:9005930 Endotoxemia treatment ISO RGD:62157 D RGD:9685193|PMID:16307218 20141223 RGD 61865 Lbp lipopolysaccharide binding protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349936 61865 Lbp lipopolysaccharide binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 61865 Lbp lipopolysaccharide binding protein gene DOID:9007730 Burns IEP D RGD:2313390|PMID:12435950 20141223 RGD 61865 Lbp lipopolysaccharide binding protein gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:9685194|PMID:22493902 20141223 RGD protein:increased expression:heart, kidney, liver, lung 61865 Lbp lipopolysaccharide binding protein gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347766 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 61865 Lbp lipopolysaccharide binding protein gene DOID:9970 obesity ISO RGD:1347766 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349936 61865 Lbp lipopolysaccharide binding protein gene DOID:9970 obesity treatment IDA D RGD:9685197|PMID:19917068 20141223 RGD 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:0050777 Joubert syndrome ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:737085 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:737085 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:12849 autistic disorder ISO RGD:737085 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16837225|PMID:25641190 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:7240710 20130221 OMIM 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16536828|PMID:16546179|PMID:16837225|PMID:16903323|PMID:17576681|PMID:17902024|PMID:17971613|PMID:17998529|PMID:18035827|PMID:19124283|PMID:19197545|PMID:19965611|PMID:20049467|PMID:21531120|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29130490|PMID:29159939|PMID:29183715|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31953843|PMID:32005694|PMID:8528251|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9467812|PMID:9536098|PMID:9829906 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:630 genetic disease ISO RGD:737085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61866 Aldh3a2 aldehyde dehydrogenase 3 family, member A2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 61867 Casp9 caspase 9 gene DOID:0060071 pre-malignant neoplasm treatment IDA D RGD:13792594|PMID:29588340 20180914 RGD associated with gastric adenocarcinoma 61867 Casp9 caspase 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61867 Casp9 caspase 9 gene DOID:0080855 Parkinsonism treatment IEP D RGD:13503344|PMID:26612350 20180112 RGD 61867 Casp9 caspase 9 gene DOID:1002 endometritis treatment IEP D RGD:13782281|PMID:26920733 20180831 RGD 61867 Casp9 caspase 9 gene DOID:104 bacterial infectious disease ISO RGD:62159 D RGD:2311430|PMID:16443785 20090715 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 61867 Casp9 caspase 9 gene DOID:10534 stomach cancer treatment ISO RGD:69147 D RGD:127284846|PMID:29408335 20210610 RGD human cells in mouse model 61867 Casp9 caspase 9 gene DOID:10534 stomach cancer treatment ISO RGD:69147 D RGD:127284886|PMID:32106377 20210616 RGD human cells in mouse model 61867 Casp9 caspase 9 gene DOID:10652 Alzheimer's disease ISO RGD:69147 D RGD:13782269|PMID:12633148 20180830 RGD 61867 Casp9 caspase 9 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782186|PMID:29777699 20180827 RGD 61867 Casp9 caspase 9 gene DOID:10763 hypertension IEP D RGD:13782308|PMID:27929425 20180904 RGD 61867 Casp9 caspase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69147 D RGD:2315930|PMID:19252927 20100115 RGD DNA:SNP:exon:p.Q221R (rs1052576) (human) 61867 Casp9 caspase 9 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69147 D RGD:2315929|PMID:19412632 20100115 RGD DNA:polymorphism, deletion: :1263A>G, 293del (human) 61867 Casp9 caspase 9 gene DOID:114 heart disease IEP D RGD:13782301|PMID:28825094 20180904 RGD associated with Multiple Trauma 61867 Casp9 caspase 9 gene DOID:114 heart disease IEP D RGD:2311320|PMID:15805231 20090707 RGD associated with Diabetes Mellitus, Experimental;protein:increased activation:heart 61867 Casp9 caspase 9 gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 61867 Casp9 caspase 9 gene DOID:12337 varicocele IEP D RGD:2311432|PMID:19145435 20090715 RGD protein:increased expression:testis 61867 Casp9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:62159 D RGD:13432083|PMID:12095160 20170919 RGD protein:increased expression:striatum: 61867 Casp9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:69147 D RGD:13432083|PMID:12095160 20170919 RGD protein:increased expression:caudate nucleus: 61867 Casp9 caspase 9 gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 61867 Casp9 caspase 9 gene DOID:1312 focal segmental glomerulosclerosis treatment IEP D RGD:13782344|PMID:28245472 20180905 RGD 61867 Casp9 caspase 9 gene DOID:14330 Parkinson's disease ISO RGD:69147 D RGD:13503345|PMID:16505307 20180112 RGD protein:increased activity:blood, leukocyte 61867 Casp9 caspase 9 gene DOID:1612 breast cancer ISO RGD:69147 D RGD:2290492|PMID:17011986 20100115 RGD mRNA:decreased expression:breast 61867 Casp9 caspase 9 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69147 D RGD:13451540|PMID:20357690 20171116 RGD DNA:snp:promoter:g.-1263A>G (human) 61867 Casp9 caspase 9 gene DOID:1793 pancreatic cancer treatment ISO RGD:69147 D RGD:13462046|PMID:19209030 20171206 RGD 61867 Casp9 caspase 9 gene DOID:2055 post-traumatic stress disorder IEP D RGD:13782181|PMID:25331812 20180827 RGD 61867 Casp9 caspase 9 gene DOID:224 transient cerebral ischemia IEP D RGD:10053706|PMID:21712070 20150720 RGD 61867 Casp9 caspase 9 gene DOID:224 transient cerebral ischemia IEP D RGD:2311321|PMID:15246841 20090707 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:neocortex 61867 Casp9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 61867 Casp9 caspase 9 gene DOID:2316 brain ischemia ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 61867 Casp9 caspase 9 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69147 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 61867 Casp9 caspase 9 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:2311466|PMID:16847061 20090717 RGD protein:increased activity:spinal cord 61867 Casp9 caspase 9 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13782346|PMID:26868427 20180906 RGD 61867 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:13434907|PMID:17285546 20171004 RGD DNA, mRNA:SNP, decreased expression:exon, lung:rs1052576 (human) 61867 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:13434908|PMID:20661084 20171004 RGD DNA:SNP: :rs4645981 (human) 61867 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:13434909|PMID:16231180 20171004 RGD mRNA:increased expression:lung 61867 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9999427|PMID:20972334 20171004 RGD mRNA:splice variant:lung 61867 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:69147 D RGD:13434907|PMID:17285546 20171004 RGD DNA:SNP:exon:rs1052571 (human) 61867 Casp9 caspase 9 gene DOID:5082 liver cirrhosis ISO RGD:62159 D RGD:13782297|PMID:29105510 20180904 RGD associated with cholestasis 61867 Casp9 caspase 9 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782341|PMID:29781318 20180905 RGD 61867 Casp9 caspase 9 gene DOID:5327 retinal detachment ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 61867 Casp9 caspase 9 gene DOID:5434 scrapie ISO RGD:62159 D RGD:13782156|PMID:27921253 20180824 RGD 61867 Casp9 caspase 9 gene DOID:557 kidney disease IEP D RGD:13782293|PMID:29257007 20180904 RGD 61867 Casp9 caspase 9 gene DOID:574 peripheral nervous system disease ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 61867 Casp9 caspase 9 gene DOID:630 genetic disease ISO RGD:69147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61867 Casp9 caspase 9 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:13782296|PMID:29133031 20180904 RGD 61867 Casp9 caspase 9 gene DOID:83 cataract treatment IEP D RGD:13782357|PMID:23508955 20180906 RGD 61867 Casp9 caspase 9 gene DOID:8398 osteoarthritis treatment IEP D RGD:13782343|PMID:29138829 20180905 RGD 61867 Casp9 caspase 9 gene DOID:863 nervous system disease ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11150333 61867 Casp9 caspase 9 gene DOID:8947 diabetic retinopathy ISO RGD:69147 D RGD:2311244|PMID:18369072 20090630 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina 61867 Casp9 caspase 9 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053608|PMID:21748659 20180802 RGD 61867 Casp9 caspase 9 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:13782345|PMID:27339639 20180905 RGD 61867 Casp9 caspase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69147 D RGD:13434907|PMID:17285546 20171004 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human) 61867 Casp9 caspase 9 gene DOID:9000197 Edema ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 61867 Casp9 caspase 9 gene DOID:9000438 Subarachnoid Hemorrhage treatment IDA D RGD:13782347|PMID:26163325 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9000808 Hypercholesterolemia IEP D RGD:13782354|PMID:24484682 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9000855 Experimental Radiation Injuries treatment IEP D RGD:13782350|PMID:24939579 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:11555349|PMID:26754107 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:13782358|PMID:23364428 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13782342|PMID:30038056 20180905 RGD associated with Diabetes Mellitus, Experimental 61867 Casp9 caspase 9 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792586|PMID:29606028 20180914 RGD associated with Diabetes Mellitus, Experimental 61867 Casp9 caspase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 61867 Casp9 caspase 9 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:62159 D RGD:13702874|PMID:23833961 20180720 RGD 61867 Casp9 caspase 9 gene DOID:9002661 Diabetes Complications treatment IEP D RGD:13782355|PMID:24252320 20180906 RGD associated with Diabetes Mellitus, Experimental 61867 Casp9 caspase 9 gene DOID:9002676 Cerebral Hemorrhage treatment IEP D RGD:13782306|PMID:28096675 20180904 RGD 61867 Casp9 caspase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2311436|PMID:18521931 20090715 RGD protein:increased expression:spinal cord 61867 Casp9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13782359|PMID:23046993 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:155882465|PMID:24089674 20230124 RGD 61867 Casp9 caspase 9 gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:13792595|PMID:29568770 20180914 RGD 61867 Casp9 caspase 9 gene DOID:9004484 Sepsis treatment IEP D RGD:13782295|PMID:29180187 20180904 RGD 61867 Casp9 caspase 9 gene DOID:9004590 Acute Liver Failure treatment IEP D RGD:13782174|PMID:26238033 20180827 RGD 61867 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:2315933|PMID:17297389 20100115 RGD 61867 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62159 D RGD:2315928|PMID:20012353 20100115 RGD 61867 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms severity IEP D RGD:10053708|PMID:20732338 20150720 RGD 61867 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:13782283|PMID:26699876 20180831 RGD 61867 Casp9 caspase 9 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311319|PMID:15976052 20090707 RGD protein:increased activity, increased expression:pituitary gland 61867 Casp9 caspase 9 gene DOID:9005930 Endotoxemia treatment IEP D RGD:10400903|PMID:23214195 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9006937 NSAID-Enteropathy IEP D RGD:13782349|PMID:25014874 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:13782299|PMID:28992627 20180904 RGD 61867 Casp9 caspase 9 gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:13782356|PMID:23946597 20180906 RGD 61867 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13782263|PMID:11934844 20180830 RGD protein:increased activity:cardiomyocyte,endothelial cell 61867 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 61867 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62159 D RGD:329337366|PMID:30259997 20230428 RGD 61867 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782276|PMID:29538428 20180831 RGD 61867 Casp9 caspase 9 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:69147 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 61867 Casp9 caspase 9 gene DOID:9256 colorectal cancer ISO RGD:69147 D RGD:13210582|PMID:21538054 20170905 RGD DNA:SNP:promoter:-1263A>G (human) 61867 Casp9 caspase 9 gene DOID:9256 colorectal cancer no_association ISO RGD:69147 D RGD:13210584|PMID:23303631 20170905 RGD DNA:SNPs::rs4646077, rs4233532, rs2881930 (human) 61867 Casp9 caspase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69147 D RGD:2311246|PMID:16038259 20090630 RGD DNA:SNP (human) 61867 Casp9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62159 D RGD:2311322|PMID:14617576 20090707 RGD 61867 Casp9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69147 D RGD:2311245|PMID:17880769 20090630 RGD 61868 Dpf1 double PHD fingers 1 gene DOID:630 genetic disease ISO RGD:1606329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61869 Grb14 growth factor receptor bound protein 14 gene DOID:630 genetic disease ISO RGD:732013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61869 Grb14 growth factor receptor bound protein 14 gene DOID:9004657 Weight Gain ISO RGD:732013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 61869 Grb14 growth factor receptor bound protein 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 61870 Ramp1 receptor activity modifying protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 61870 Ramp1 receptor activity modifying protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 61870 Ramp1 receptor activity modifying protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 61870 Ramp1 receptor activity modifying protein 1 gene DOID:1059 intellectual disability ISO RGD:735949 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61870 Ramp1 receptor activity modifying protein 1 gene DOID:630 genetic disease ISO RGD:735949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61870 Ramp1 receptor activity modifying protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 61870 Ramp1 receptor activity modifying protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61871 Rhag Rh-associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:7240710 20130221 OMIM 61871 Rhag Rh-associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rh-null, regulator type PMID:10467273|PMID:25741868|PMID:28492532|PMID:8563755|PMID:9442063|PMID:9454778|PMID:9746795|PMID:9915949 61871 Rhag Rh-associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:7240710 20151216 OMIM 61871 Rhag Rh-associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis PMID:1174702|PMID:13762977|PMID:15180870|PMID:18931342|PMID:21849667|PMID:22012326|PMID:23406318|PMID:25741868|PMID:2765409|PMID:2917122|PMID:6018468 61871 Rhag Rh-associated glycoprotein gene DOID:583 hemolytic anemia ISO RGD:731598 D RGD:1599622|PMID:10467273 20070208 RGD Rh(null) syndrome, OMIM:180297 61871 Rhag Rh-associated glycoprotein gene DOID:630 genetic disease ISO RGD:731598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 61872 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension IEP D RGD:1625300|PMID:16450076 20071008 RGD mRNA, protein:increased expression:heart myocardium, aorta 61872 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:735315 D RGD:1642682|PMID:11600589 20071009 RGD associated with Pregnancy Complications 61872 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension susceptibility ISO RGD:735315 D RGD:1642679|PMID:15797661 20071008 RGD DNA:SNP:intron 61872 Ramp2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome IEP D RGD:1642683|PMID:17068622 20071009 RGD mRNA:decreased expression:lung 61872 Ramp2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 61872 Ramp2 receptor activity modifying protein 2 gene DOID:299 adenocarcinoma ISO RGD:735315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 61872 Ramp2 receptor activity modifying protein 2 gene DOID:557 kidney disease IEP D RGD:61729|PMID:10733909 20071010 RGD mRNA:increased expression:kidney 61872 Ramp2 receptor activity modifying protein 2 gene DOID:6000 congestive heart failure IEP D RGD:704370|PMID:12623952 20071009 RGD associated with Hypertension 61872 Ramp2 receptor activity modifying protein 2 gene DOID:630 genetic disease ISO RGD:735315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61872 Ramp2 receptor activity modifying protein 2 gene DOID:6432 pulmonary hypertension IEP D RGD:1642678|PMID:17437045 20071008 RGD mRNA:increased expression:heart right ventricle 61872 Ramp2 receptor activity modifying protein 2 gene DOID:672 spleen cancer ameliorates ISO RGD:62164 D RGD:152985691|PMID:31754214 20220608 RGD 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:735315 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:62164 D RGD:152985691|PMID:31754214 20220608 RGD 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1625319|PMID:16713642 20071009 RGD 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9003936 Cardiomegaly IEP D RGD:1642686|PMID:15680493 20071009 RGD 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9004657 Weight Gain ISO RGD:735315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9005587 Starvation IEP D RGD:1625307|PMID:17335899 20071009 RGD 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642701|PMID:14717924 20071010 RGD mRNA:increased expression:kidney 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9007102 Myocardial Ischemia IEP D RGD:1642684|PMID:16987513 20071009 RGD mRNA:increased expression:ventricle myocardium 61872 Ramp2 receptor activity modifying protein 2 gene DOID:9256 colorectal cancer ISO RGD:735315 D RGD:152985531|PMID:21839130 20220607 RGD mRNA:increased expression:colorectum (human) 61873 Ramp3 receptor activity modifying protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737378 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61873 Ramp3 receptor activity modifying protein 3 gene DOID:630 genetic disease ISO RGD:737378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61873 Ramp3 receptor activity modifying protein 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737378 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 61873 Ramp3 receptor activity modifying protein 3 gene DOID:9256 colorectal cancer ISO RGD:737378 D RGD:152985531|PMID:21839130 20220607 RGD mRNA:increased expression:colorectum (human) 61874 Psmb2 proteasome 20S subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732759 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61874 Psmb2 proteasome 20S subunit beta 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732759 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 61874 Psmb2 proteasome 20S subunit beta 2 gene DOID:11054 urinary bladder cancer ISO RGD:732759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 61874 Psmb2 proteasome 20S subunit beta 2 gene DOID:630 genetic disease ISO RGD:732759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61875 Psmb3 proteasome 20S subunit beta 3 gene DOID:630 genetic disease ISO RGD:734194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61876 Prap1 proline-rich acidic protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354045 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 61876 Prap1 proline-rich acidic protein 1 gene DOID:630 genetic disease ISO RGD:1354045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:0050553 JMP syndrome ISO RGD:1344491 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:26524591 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:0080422 Dravet syndrome ISO RGD:1344491 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344491 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:630 genetic disease ISO RGD:1344491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:1344491 D RGD:7240710 20190315 OMIM 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:9009202 Proteasome-Associated Autoinflammatory Syndrome 3 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 PMID:21953331|PMID:25741868|PMID:26524591|PMID:28492532 61877 Psmb4 proteasome 20S subunit beta 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344491 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61879 Psmb5 proteasome 20S subunit beta 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 61879 Psmb5 proteasome 20S subunit beta 5 gene DOID:630 genetic disease ISO RGD:735704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61879 Psmb5 proteasome 20S subunit beta 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 61879 Psmb5 proteasome 20S subunit beta 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 61879 Psmb5 proteasome 20S subunit beta 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:735704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61880 Vamp3 vesicle-associated membrane protein 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61880 Vamp3 vesicle-associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:736779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61880 Vamp3 vesicle-associated membrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736779 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61881 Psmb6 proteasome 20S subunit beta 6 gene DOID:630 genetic disease ISO RGD:1349289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:1059 intellectual disability ISO RGD:1348747 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:12712 nephronophthisis ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1348747 D RGD:7240710 20190315 OMIM 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:630 genetic disease ISO RGD:1348747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16005304 61882 Nr4a3 nuclear receptor subfamily 4, group A, member 3 gene DOID:9007692 Insulin Resistance ISO RGD:1348747 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 61883 Ghrh growth hormone releasing hormone gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:737566 D RGD:10401267|PMID:22506635 20151005 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea ISO RGD:737566 D RGD:5687742|PMID:16750036 20120209 RGD protein:decreased expression:plasma (human) 61883 Ghrh growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea treatment ISO RGD:62175 D RGD:10401240|PMID:23815362 20151002 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:0060873 isolated growth hormone deficiency type IA ISS RGD:62175 D RGD:13592920 20180518 MouseDO OMIM:262400 61883 Ghrh growth hormone releasing hormone gene DOID:10286 prostate carcinoma ISO RGD:737566 D RGD:2289976|PMID:12364462 20080221 RGD mRNA:increased expression:prostate 61883 Ghrh growth hormone releasing hormone gene DOID:10652 Alzheimer's disease treatment ISO RGD:62175 D RGD:10401233|PMID:23211425 20151002 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:11132 prostatic hypertrophy treatment IMP D RGD:10401238|PMID:22341819 20151002 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:11132 prostatic hypertrophy treatment IMP D RGD:10401264|PMID:21321192 20151005 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:11396 pulmonary edema ISO RGD:737566 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22308467 61883 Ghrh growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:2289974|PMID:10022420 20080221 RGD mRNA:increased expression:tumor:expression in 17/22 specimens 61883 Ghrh growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:2301423|PMID:15784701 20081013 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:1612 breast cancer ISO RGD:737566 D RGD:2289972|PMID:1973621 20080221 RGD protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas 61883 Ghrh growth hormone releasing hormone gene DOID:2234 focal epilepsy ISO RGD:737566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 61883 Ghrh growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:2289974|PMID:10022420 20080221 RGD mRNA:increased expression:tumor:expression in 17/22 specimens 61883 Ghrh growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:2301424|PMID:11710593 20081013 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:2301425|PMID:11163834 20081014 RGD mRNA:increased expression:endometrium 61883 Ghrh growth hormone releasing hormone gene DOID:289 endometriosis ISO RGD:737566 D RGD:2301425|PMID:11163834 20081014 RGD mRNA:decreased expression:ovary 61883 Ghrh growth hormone releasing hormone gene DOID:4450 renal cell carcinoma ISO RGD:737566 D RGD:2301426|PMID:10962030 20081014 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:535 sleep disorder IEP D RGD:5687196|PMID:16859658 20120206 RGD mRNA:increased expression:brain, multiple (rat) 61883 Ghrh growth hormone releasing hormone gene DOID:5844 myocardial infarction treatment IDA D RGD:10401242|PMID:24373935 20151002 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:630 genetic disease ISO RGD:737566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61883 Ghrh growth hormone releasing hormone gene DOID:9002234 Pituitary Neoplasms ISO RGD:737566 D RGD:5687177|PMID:1425411 20120203 RGD Adenoma; human gene in mouse model 61883 Ghrh growth hormone releasing hormone gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:62175 D RGD:5687168|PMID:21846799 20120202 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:737566 D RGD:10401232|PMID:23689947 20151002 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:10401241|PMID:22393012 20151002 RGD 61883 Ghrh growth hormone releasing hormone gene DOID:9007827 Upper Airway Obstruction IEP D RGD:5687169|PMID:21406516 20120202 RGD mRNA, protein:decreased expression:hypothalamus (rat) 61883 Ghrh growth hormone releasing hormone gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:737566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 61884 Clns1a chloride nucleotide-sensitive channel 1A gene DOID:1059 intellectual disability ISO RGD:732210 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61884 Clns1a chloride nucleotide-sensitive channel 1A gene DOID:1909 melanoma ISO RGD:732210 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 61884 Clns1a chloride nucleotide-sensitive channel 1A gene DOID:630 genetic disease ISO RGD:732210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61885 Pitpna phosphatidylinositol transfer protein, alpha gene DOID:0060357 chylomicron retention disease ISS RGD:1550960 D RGD:13592920 20180518 MouseDO OMIM:246700 61885 Pitpna phosphatidylinositol transfer protein, alpha gene DOID:630 genetic disease ISO RGD:1352423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61887 Pdcd2 programmed cell death 2 gene DOID:630 genetic disease ISO RGD:733734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0050469 Costello syndrome ISO RGD:1343460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16439621|PMID:17703371 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16439621|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19376813|PMID:20358587|PMID:23885229|PMID:24033266|PMID:24265153|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:33452774 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1343460 D RGD:8554872 20170718 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30095857|PMID:30762279|PMID:30773290|PMID:33452774|PMID:9536098 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:33452774|PMID:9536098 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1343460 D RGD:8554872 20190924 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17366577|PMID:24719372|PMID:25326637|PMID:25741868|PMID:28492532 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:155791562|PMID:20358587 20221220 RGD DNA:missense mutation:CDS:p.P128Q (human) 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:7240710 20150701 OMIM 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 PMID:15175348|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19156172|PMID:19376813|PMID:20358587|PMID:21178588|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:25326637|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30773290|PMID:32901917|PMID:9536098 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1343460 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343460 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:13938 amenorrhea ISO RGD:1343460 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17366577|PMID:24033266|PMID:24719372|PMID:28492532|PMID:30773290 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:1612 breast cancer ISO RGD:1343460 D RGD:2292627|PMID:10216485 20080428 RGD 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:1909 melanoma ISO RGD:1343460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:1909 melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24265153|PMID:24265154|PMID:25487361|PMID:28492532 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:3068 glioblastoma treatment ISO RGD:1343460 D RGD:13702862|PMID:26189368 20180719 RGD 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:3490 Noonan syndrome ISO RGD:1343460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:3490 Noonan syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17981815|PMID:18039235|PMID:18413255|PMID:19376813|PMID:22753777|PMID:23885229|PMID:24033266|PMID:25741868|PMID:25802880|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30050098|PMID:30762279|PMID:33452774 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1343460 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:18042262|PMID:26619011 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:62181 D RGD:150530476|PMID:21514245 20211210 RGD 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1343460 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:18042262|PMID:26619011 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:4906 small intestine adenocarcinoma ISO RGD:1343460 D RGD:13464351|PMID:19014680 20180104 RGD 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343460 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:18042262|PMID:26619011 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:6364 migraine ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:150530477|PMID:9397988 20211210 RGD protein:increased expression:liver, cytosol (rat) 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343460 D RGD:150530475|PMID:33553243 20211210 RGD mRNA:increased expression:liver (human) 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:8923 skin melanoma ISO RGD:1343460 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:18042262|PMID:26619011 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343460 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343460 D RGD:2298686|PMID:18060073 20080715 RGD 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:1343460 D RGD:155791561|PMID:26956845 20221220 RGD mRNA:decreased expression:blood, leukocyte (human) 61888 Map2k2 mitogen activated protein kinase kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:decreased expression:colorectum (human) PMID:28000901|REF_RGD_ID:150530480 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:0050581 brachydactyly ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:14612366|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20828792|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23164758|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:737570 D RGD:11531114|PMID:22351163 20160826 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:7240710 20200701 OMIM 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis PMID:10024914|PMID:10090880|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10879615|PMID:10905662|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15024744|PMID:15300846|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18353061|PMID:18409191|PMID:18609258|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19302049|PMID:19531756|PMID:19729025|PMID:19786432|PMID:19790133|PMID:19863562|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20041150|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20828792|PMID:21228398|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21600797|PMID:21623663|PMID:21727933|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:23010357|PMID:23031807|PMID:23164758|PMID:23280696|PMID:23325590|PMID:23334425|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23633568|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24117178|PMID:24233262|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24929125|PMID:25006247|PMID:25036384|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25703702|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25974247|PMID:26003477|PMID:26028444|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26510601|PMID:26574972|PMID:26585190|PMID:27030597|PMID:27473114|PMID:27513391|PMID:27872624|PMID:28211254|PMID:28289585|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28597968|PMID:28814775|PMID:28835462|PMID:28943464|PMID:29047407|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29579081|PMID:29599418|PMID:29735907|PMID:30171907|PMID:30355575|PMID:30476289|PMID:30546872|PMID:30887796|PMID:31088470|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31589380|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32199921|PMID:32359823|PMID:32441320|PMID:32447396|PMID:32909274|PMID:33223529|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9536098|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:7349346|PMID:22451026 20130920 RGD DNA:mutations:exons: 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:7349347|PMID:20602240 20130920 RGD DNA:mutation:exon:p. E148Q (human) 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:737570 D RGD:11531116|PMID:25232290 20160826 RGD DNA:mutations:cds: 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:11383 cryptorchidism ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:14612366|PMID:15643295|PMID:15942916|PMID:16498449|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20041150|PMID:20828792|PMID:21290976|PMID:21600797|PMID:22037353|PMID:22337722|PMID:22903357|PMID:23010357|PMID:23070486|PMID:23164758|PMID:23325590|PMID:23334425|PMID:23867542|PMID:23907647|PMID:24117178|PMID:24318677|PMID:24369413|PMID:25203624|PMID:25741868|PMID:26247045|PMID:26554556|PMID:26620106|PMID:27030597|PMID:27838405|PMID:28421071|PMID:28492532|PMID:29178647|PMID:29260407|PMID:29599418|PMID:29927949|PMID:30171907|PMID:31411330|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:13241 Behcet's disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532|PMID:28814775|PMID:31411330 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:1682 congenital heart disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22207183|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26003477|PMID:26078663|PMID:27364639|PMID:27733942|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:1826 epilepsy ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:737570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2280 hidradenitis suppurativa ISO RGD:737570 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2841 asthma susceptibility ISO RGD:737570 D RGD:5129186|PMID:18219832 20110328 RGD DNA:mutations:exons 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28863210 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28597968|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805719|PMID:21329287 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:5129184|PMID:20217092 20110328 RGD DNA:mutations:exons 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:7240710 20130221 OMIM 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:7349343|PMID:23862117 20130920 RGD DNA:mutations:exons: 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:7349344|PMID:23038988 20130920 RGD DNA:mutations:exons:p. M694V,V726A,E148Q,M680I (human); 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31531243|PMID:31589380|PMID:31620089|PMID:31646357|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial Mediterranean fever ISO RGD:737570 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:26759267|PMID:26843738|PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31620089|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:3529 central core disease ISO RGD:737570 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868|PMID:28492532 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:630 genetic disease ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19531756|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22207183|PMID:22261745|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23031807|PMID:23038988|PMID:23164758|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23847694|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:26003477|PMID:26027984|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26690517|PMID:26843738|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28927886|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29178647|PMID:29314707|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31989427|PMID:32312770|PMID:32401353|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:6543 acne ISO RGD:737570 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:850 lung disease ISO RGD:737570 D RGD:5129189|PMID:12746942 20110328 RGD associated with Mediterranean fever 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:8553 pyoderma gangrenosum ISO RGD:737570 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9000727 Syncope ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syncope PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22207183|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26003477|PMID:26078663|PMID:27364639|PMID:27733942|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9003984 Hyperpigmentation ISO RGD:737570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:25741868 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:737570 D RGD:11531118|PMID:20518828 20160826 RGD DNA:mutations:cds:p.M694V,E148Q,M680I(human) 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:7240710 20130221 OMIM 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10852276|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20828792|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23155201|PMID:23164758|PMID:23206577|PMID:23280696|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25261100|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26028444|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26574972|PMID:26585190|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:2703059|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27621632|PMID:27659338|PMID:27872624|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28814775|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:30171907|PMID:30355575|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:31088470|PMID:31204589|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31646357|PMID:31803701|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:35098403|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9008 psoriatic arthritis ISO RGD:737570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17408446 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737570 D RGD:11531114|PMID:22351163 20160826 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9538 multiple myeloma susceptibility ISO RGD:737570 D RGD:11531123|PMID:25202401 20160826 RGD DNA:polymorphisms:cds:p.E148Q,M694V(human) 61889 Mefv MEFV innate immunity regulator, pyrin gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737570 D RGD:11531121|PMID:22942567 20160826 RGD DNA:polymorphisms:cds:p.E148Q,M680I(human) 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:10283 prostate cancer ISO RGD:735708 D RGD:2298795|PMID:12618764 20080724 RGD 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:62183 D RGD:1580866|PMID:11387209 19990101 RGD 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735708 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:2717 Bloom syndrome ISO RGD:735708 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:630 genetic disease ISO RGD:735708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:670 amphetamine abuse ISO RGD:735708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735708 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:9003936 Cardiomegaly ISO RGD:62183 D RGD:1580866|PMID:11387209 19990101 RGD 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:9007633 Body Weight ISO RGD:735708 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:9007820 Sudden Death ISO RGD:62183 D RGD:1580866|PMID:11387209 19990101 RGD 61890 Map2k5 mitogen activated protein kinase kinase 5 gene DOID:9256 colorectal cancer ISO RGD:735708 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 61891 Tas1r1 taste 1 receptor member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61891 Tas1r1 taste 1 receptor member 1 gene DOID:630 genetic disease ISO RGD:732021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61891 Tas1r1 taste 1 receptor member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732021 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352961 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1352961 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:1826 epilepsy ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352961 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1352961 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 61892 Eci1 enoyl-CoA delta isomerase 1 gene DOID:630 genetic disease ISO RGD:1352961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61893 Pfkp phosphofructokinase, platelet gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731015 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 61893 Pfkp phosphofructokinase, platelet gene DOID:5419 schizophrenia ISO RGD:731015 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61893 Pfkp phosphofructokinase, platelet gene DOID:630 genetic disease ISO RGD:731015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61893 Pfkp phosphofructokinase, platelet gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61894 Tas1r2 taste 1 receptor member 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61894 Tas1r2 taste 1 receptor member 2 gene DOID:630 genetic disease ISO RGD:1353489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61895 Dcn decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:7240710 20130221 OMIM 61895 Dcn decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital stromal corneal dystrophy PMID:11805522|PMID:15671264|PMID:16935612|PMID:20301741|PMID:21993463|PMID:24413633|PMID:28492532|PMID:5304426 61895 Dcn decorin gene DOID:1063 interstitial nephritis ISO RGD:1346102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 61895 Dcn decorin gene DOID:11714 gestational diabetes ISO RGD:1346102 D RGD:2311413|PMID:16630654 20090714 RGD 61895 Dcn decorin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1346102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 61895 Dcn decorin gene DOID:13359 Ehlers-Danlos syndrome ISS RGD:62188 D RGD:13592920 20180518 MouseDO OMIM:225400 61895 Dcn decorin gene DOID:2841 asthma IEP D RGD:2311423|PMID:16387756 20090714 RGD 61895 Dcn decorin gene DOID:3070 high grade glioma disease_progression ISO RGD:1346102 D RGD:2311425|PMID:15475879 20090714 RGD 61895 Dcn decorin gene DOID:3459 breast carcinoma ISO RGD:1346102 D RGD:2311418|PMID:18688028 20090714 RGD 61895 Dcn decorin gene DOID:5844 myocardial infarction IEP D RGD:1598497|PMID:16311904 20090714 RGD 61895 Dcn decorin gene DOID:630 genetic disease ISO RGD:1346102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61895 Dcn decorin gene DOID:684 hepatocellular carcinoma ISO RGD:1346102 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 61895 Dcn decorin gene DOID:9000784 Fibrosis IEP D RGD:2311424|PMID:16005714 20090714 RGD mRNA:increased expression:kidney 61895 Dcn decorin gene DOID:9000784 Fibrosis ISO RGD:1346102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 61895 Dcn decorin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346102 D RGD:2311418|PMID:18688028 20090714 RGD associated with Breast Neoplasms 61895 Dcn decorin gene DOID:9001600 Wounds and Injuries IEP D RGD:2311417|PMID:19393425 20090714 RGD 61895 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:2311415|PMID:12187087 20090714 RGD associated with Diabetes Mellitus, Insulin-Dependent 61895 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:2311416|PMID:11259366 20090714 RGD protein:increased expression:plasma, urine 61895 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:2311411|PMID:17884968 20090714 RGD associated with Diabetes Mellitus, Experimental 61895 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:2311412|PMID:16868749 20090714 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus 61895 Dcn decorin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311414|PMID:15713786 20090714 RGD 61895 Dcn decorin gene DOID:9007102 Myocardial Ischemia ISO RGD:1346102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61895 Dcn decorin gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346102 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 61895 Dcn decorin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346102 D RGD:2311410|PMID:18414424 20090714 RGD protein:increased expression:plasma 61895 Dcn decorin gene DOID:9970 obesity IEP D RGD:1600551|PMID:17244723 20090714 RGD 61896 Nme6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:630 genetic disease ISO RGD:1604057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61896 Nme6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 61897 Ptafr platelet-activating factor receptor gene DOID:10247 pleurisy treatment IMP D RGD:10043147|PMID:8395390 20150514 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:11446 sciatic neuropathy IEP D RGD:9999207|PMID:22296727 20150413 RGD mRNA:increased expression:spinal cord, microglia (rat) 61897 Ptafr platelet-activating factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733075 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 61897 Ptafr platelet-activating factor receptor gene DOID:1227 neutropenia treatment IMP D RGD:10043179|PMID:3011900 20150518 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:224 transient cerebral ischemia IEP D RGD:9999221|PMID:17268849 20150414 RGD mRNA:decreased expression:cerebral cortex (rat) 61897 Ptafr platelet-activating factor receptor gene DOID:224 transient cerebral ischemia treatment IMP D RGD:10043297|PMID:8158141 20150520 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:2921 glomerulonephritis treatment IMP D RGD:10041057|PMID:1668710 20150511 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:3021 acute kidney failure treatment IMP D RGD:10043182|PMID:2538527 20150519 RGD associated with Endotoxemia 61897 Ptafr platelet-activating factor receptor gene DOID:6195 conjunctivitis IEP D RGD:9999205|PMID:15735601 20150413 RGD protein:increased expression:conjunctiva, eosinophil (rat) 61897 Ptafr platelet-activating factor receptor gene DOID:630 genetic disease ISO RGD:733075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61897 Ptafr platelet-activating factor receptor gene DOID:8677 perinatal necrotizing enterocolitis treatment IDA D RGD:9999208|PMID:17515866 20150413 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:8778 Crohn's disease ISO RGD:733075 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 61897 Ptafr platelet-activating factor receptor gene DOID:9000728 Traumatic Shock treatment IMP D RGD:10043180|PMID:2165204 20150519 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733075 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61897 Ptafr platelet-activating factor receptor gene DOID:9002211 Hyperalgesia treatment IMP D RGD:10041052|PMID:16925995 20150511 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9002906 Multiple Organ Failure treatment IMP D RGD:10043149|PMID:9750012 20150514 RGD associated with Pancreatitis, Experimental 61897 Ptafr platelet-activating factor receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment IMP D RGD:10041062|PMID:12356842 20150511 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9004009 Reperfusion Injury ISO RGD:62190 D RGD:1581279|PMID:12812996 19990101 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9004009 Reperfusion Injury treatment IMP D RGD:10043168|PMID:11139461 20150518 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9004590 Acute Liver Failure IEP D RGD:10043144|PMID:11414308 20150514 RGD mRNA:increased expression:liver (rat) 61897 Ptafr platelet-activating factor receptor gene DOID:9005930 Endotoxemia treatment IMP D RGD:10041063|PMID:2178565 20150511 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9006024 Hypotension treatment IMP D RGD:10043179|PMID:3011900 20150518 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment IDA D RGD:9999225|PMID:21633536 20150414 RGD 61897 Ptafr platelet-activating factor receptor gene DOID:9008232 Neutrophilia treatment IMP D RGD:10043145|PMID:10770284 20150514 RGD associated with Scorpion Stings 61897 Ptafr platelet-activating factor receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:8944602 D RGD:9068941 20200609 RGD PMID:14759570|REF_RGD_ID:11554333 61898 Maoa monoamine oxidase A gene DOID:0050771 pheochromocytoma ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 61898 Maoa monoamine oxidase A gene DOID:0060041 autism spectrum disorder ISO RGD:735751 D RGD:11535982|PMID:24356376 20160927 RGD DNA:SNPs, haplotype: :rs6323, rs1801291, rs3027407 (human) 61898 Maoa monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:8211186 61898 Maoa monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:7240710 20130221 OMIM 61898 Maoa monoamine oxidase A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:11700166|PMID:17296899|PMID:17576681|PMID:20340138|PMID:22382802|PMID:24169519|PMID:25741868|PMID:25807999|PMID:28492532|PMID:30452590|PMID:8211186|PMID:9536098 61898 Maoa monoamine oxidase A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735751 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 61898 Maoa monoamine oxidase A gene DOID:0080000 muscular disease ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15946989 61898 Maoa monoamine oxidase A gene DOID:0080600 COVID-19 ISO RGD:735751 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61898 Maoa monoamine oxidase A gene DOID:1059 intellectual disability ISO RGD:735751 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 61898 Maoa monoamine oxidase A gene DOID:10652 Alzheimer's disease ISO RGD:735751 D RGD:10046060|PMID:1627256 20150706 RGD 61898 Maoa monoamine oxidase A gene DOID:10939 antisocial personality disorder ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8503438|PMID:12161658|PMID:18212819 61898 Maoa monoamine oxidase A gene DOID:12849 autistic disorder ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12919132|PMID:18361446|PMID:20573161 61898 Maoa monoamine oxidase A gene DOID:12849 autistic disorder ISO RGD:735751 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61898 Maoa monoamine oxidase A gene DOID:12858 Huntington's disease ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 61898 Maoa monoamine oxidase A gene DOID:13413 hepatic encephalopathy ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9048767|PMID:10206825|PMID:10564534 61898 Maoa monoamine oxidase A gene DOID:14330 Parkinson's disease ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17449559 61898 Maoa monoamine oxidase A gene DOID:150 disease of mental health ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 61898 Maoa monoamine oxidase A gene DOID:1561 cognitive disorder ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24402517 61898 Maoa monoamine oxidase A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:735751 D RGD:1600720|PMID:15900229 20070323 RGD 61898 Maoa monoamine oxidase A gene DOID:289 endometriosis ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 61898 Maoa monoamine oxidase A gene DOID:594 panic disorder ISO RGD:735751 D RGD:1600723|PMID:15670397 20070323 RGD 61898 Maoa monoamine oxidase A gene DOID:630 genetic disease ISO RGD:735751 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61898 Maoa monoamine oxidase A gene DOID:6364 migraine no_association ISO RGD:735751 D RGD:1600725|PMID:15088153 20070323 RGD 61898 Maoa monoamine oxidase A gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 61898 Maoa monoamine oxidase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735751 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61898 Maoa monoamine oxidase A gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 61898 Maoa monoamine oxidase A gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8503438 61898 Maoa monoamine oxidase A gene DOID:9006024 Hypotension ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 61898 Maoa monoamine oxidase A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 61898 Maoa monoamine oxidase A gene DOID:9007996 End Stage Liver Disease ISO RGD:735751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:0050741 alcohol dependence ISS RGD:62192 D RGD:13592920 20180518 MouseDO OMIM:103780 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:1098 fetal erythroblastosis ISO RGD:737565 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:12858 Huntington's disease ISO RGD:737565 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:1793 pancreatic cancer ISO RGD:737565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18728667 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:2316 brain ischemia IMP D RGD:2316942|PMID:15829178 20100304 RGD 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737565 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:630 genetic disease ISO RGD:737565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:6652 diffuse idiopathic skeletal hyperostosis ISS RGD:62192 D RGD:13592920 20181129 MouseDO OMIM:106400 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:737565 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283641 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316941|PMID:16873415 20100304 RGD mRNA:decreased expression:cardiac muscle cell 61899 Slc29a1 solute carrier family 29 member 1 gene DOID:9006205 Animal Disease Models ISO RGD:737565 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 61900 Gabrr1 gamma-aminobutyric acid type A receptor subunit rho 1 gene DOID:630 genetic disease ISO RGD:1346666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060041 autism spectrum disorder ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733681 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733681 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733681 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733681 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 ISO RGD:733681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:25194483|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:34633442 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 susceptibility ISO RGD:733681 D RGD:7240710 20190904 OMIM 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1059 intellectual disability ISO RGD:733681 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1826 epilepsy ISO RGD:733681 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733681 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:17576681|PMID:20352446|PMID:23216579|PMID:24249596|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:9536098 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:5419 schizophrenia ISO RGD:733681 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:630 genetic disease ISO RGD:733681 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:684 hepatocellular carcinoma ISO RGD:733681 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:733681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay PMID:25741868 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9001793 Generalized Epilepsy ISO RGD:733681 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733681 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9006930 Generalized Epilepsy with Febrile Seizures Plus, Type 5 ISO RGD:733681 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:26467025|PMID:28383543|PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733681 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 61901 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9478 postpartum depression ISS RGD:62194 D RGD:13592920 20180518 MouseDO 61902 Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733076 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 61902 Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 gene DOID:12849 autistic disorder ISO RGD:733076 D RGD:6480256|PMID:16080114 20120320 RGD DNA:SNP: : 61902 Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 gene DOID:3602 toxic encephalopathy ISO RGD:733076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 61902 Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 gene DOID:409 liver disease ISO RGD:733076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 61902 Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 gene DOID:630 genetic disease ISO RGD:733076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61903 Gpr182 G protein-coupled receptor 182 gene DOID:630 genetic disease ISO RGD:736455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61903 Gpr182 G protein-coupled receptor 182 gene DOID:6432 pulmonary hypertension IEP D RGD:1625768|PMID:12622928 20070629 RGD mRNA:increased expression:lung 61903 Gpr182 G protein-coupled receptor 182 gene DOID:684 hepatocellular carcinoma ISO RGD:736455 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:10283 prostate cancer ISO RGD:1349626 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:11716 prediabetes syndrome ISO RGD:1349626 D RGD:2311683|PMID:15004204 20090729 RGD 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:12849 autistic disorder ISO RGD:1349626 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:630 genetic disease ISO RGD:1349626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349626 D RGD:2311682|PMID:18193190 20090729 RGD 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:2311684|PMID:12419281 20090729 RGD 61904 Ptprn2 protein tyrosine phosphatase, receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISS RGD:62197 D RGD:13592920 20180518 MouseDO OMIM:222100 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:1059 intellectual disability ISO RGD:732077 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732077 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:630 genetic disease ISO RGD:732077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28689658 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:83 cataract ISO RGD:732077 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:32500975 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:7240710 20210818 OMIM 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy PMID:32500975 61905 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:1289 neurodegenerative disease ISO RGD:62199 D RGD:6482198|PMID:20467332 20120417 RGD DNA:deletion:exon: exons 5,6; males 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:13580 cholestasis ISO RGD:1352469 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17256725 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:409 liver disease ISO RGD:62199 D RGD:6480869|PMID:21815813 20120406 RGD 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:630 genetic disease ISO RGD:1352469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:62199 D RGD:6482195|PMID:20679224 20120417 RGD DNA:deletion:exon:exons 5 and 6, estrogen dependent 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9002457 Experimental Arthritis ISO RGD:62199 D RGD:6480864|PMID:21859686 20120406 RGD 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:62199 D RGD:6480877|PMID:21266776 20120406 RGD 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9005369 Hepatomegaly ISO RGD:1352469 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352469 D RGD:13506790|PMID:20939869 20120413 RGD 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:13506790|PMID:20939869 20120413 RGD 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:1626248|PMID:17108812 20070726 RGD 61906 Nr1h2 nuclear receptor subfamily 1, group H, member 2 gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 61907 Rps7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:7240710 20151125 OMIM 61907 Rps7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:17576681|PMID:19061985|PMID:23718193|PMID:25424902|PMID:25741868|PMID:27882484|PMID:28102861|PMID:28492532|PMID:9536098 61907 Rps7 ribosomal protein S7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:26136524|PMID:28492532 61907 Rps7 ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1348295 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351789 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:7240710 20160511 OMIM 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:17576681|PMID:18272684|PMID:18501189|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:23458836|PMID:24344282|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394|PMID:32326241|PMID:33846303|PMID:9536098 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1351789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:18272684|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1351789 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:9240 erythromelalgia ISO RGD:1351789 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 61908 Rab7a RAB7A, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:1059 intellectual disability ISO RGD:733364 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:13580 cholestasis ISO RGD:733364 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17256725 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:2377 multiple sclerosis ISO RGD:733364 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:27253448 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:5425 ovarian hyperstimulation syndrome ISS RGD:62202 D RGD:13592920 20180518 MouseDO OMIM:608115 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:630 genetic disease ISO RGD:733364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:9002457 Experimental Arthritis ISO RGD:62202 D RGD:6480864|PMID:21859686 20120406 RGD 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733364 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17256725 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:9452 fatty liver disease ISO RGD:733364 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23651738 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:9970 obesity ISO RGD:733364 D RGD:1626248|PMID:17108812 20070726 RGD 61909 Nr1h3 nuclear receptor subfamily 1, group H, member 3 gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 61910 Rps8 ribosomal protein S8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 61910 Rps8 ribosomal protein S8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731589 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 61910 Rps8 ribosomal protein S8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 61910 Rps8 ribosomal protein S8 gene DOID:14330 Parkinson's disease ISO RGD:731589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 61910 Rps8 ribosomal protein S8 gene DOID:630 genetic disease ISO RGD:731589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61910 Rps8 ribosomal protein S8 gene DOID:9004657 Weight Gain ISO RGD:731589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 61910 Rps8 ribosomal protein S8 gene DOID:9008939 Breast Neoplasms ISO RGD:731589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 61911 Gabarap GABA type A receptor-associated protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 61911 Gabarap GABA type A receptor-associated protein gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 61911 Gabarap GABA type A receptor-associated protein gene DOID:1059 intellectual disability ISO RGD:736805 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 61911 Gabarap GABA type A receptor-associated protein gene DOID:12177 common variable immunodeficiency ISO RGD:736805 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 61911 Gabarap GABA type A receptor-associated protein gene DOID:2729 dyskeratosis congenita ISO RGD:736805 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 61911 Gabarap GABA type A receptor-associated protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 61911 Gabarap GABA type A receptor-associated protein gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:736805 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:0060417 3p deletion syndrome ISO RGD:69004 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:10584 retinitis pigmentosa ISS RGD:62205 D RGD:13592920 20180518 MouseDO OMIM:268000 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:11372 megacolon ISO RGD:69004 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:62205 D RGD:11553929|PMID:24304186 20161018 RGD protein:decreased expression:frontal cortex: 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:69004 D RGD:11553929|PMID:24304186 20161018 RGD protein:decreased expression:frontal cortex: 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:630 genetic disease ISO RGD:69004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:8466 retinal degeneration ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:31345061|PMID:31903486 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:7240710 20210707 OMIM 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy PMID:25741868|PMID:31345061|PMID:31903486 61912 Slc6a6 solute carrier family 6 member 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:69004 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61913 Gas6 growth arrest specific 6 gene DOID:0060903 thrombosis ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11175853|PMID:15130911|PMID:15733062|PMID:16564713 61913 Gas6 growth arrest specific 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 61913 Gas6 growth arrest specific 6 gene DOID:2222 factor X deficiency ISO RGD:736280 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 61913 Gas6 growth arrest specific 6 gene DOID:2921 glomerulonephritis IDA D RGD:1579882|PMID:11290560 19990101 RGD 61913 Gas6 growth arrest specific 6 gene DOID:3021 acute kidney failure ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 61913 Gas6 growth arrest specific 6 gene DOID:557 kidney disease ISO RGD:736280 D RGD:1579938|PMID:15619028 19990101 RGD 61913 Gas6 growth arrest specific 6 gene DOID:630 genetic disease ISO RGD:736280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61913 Gas6 growth arrest specific 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 61913 Gas6 growth arrest specific 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736280 D RGD:1579938|PMID:15619028 19990101 RGD 61913 Gas6 growth arrest specific 6 gene DOID:9002514 Neointima IEP D RGD:631894|PMID:9758639 20160302 RGD 61913 Gas6 growth arrest specific 6 gene DOID:9003121 Thromboembolism ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16564713 61913 Gas6 growth arrest specific 6 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 61913 Gas6 growth arrest specific 6 gene DOID:9003936 Cardiomegaly ISO RGD:736280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 61913 Gas6 growth arrest specific 6 gene DOID:9004484 Sepsis ISO RGD:736280 D RGD:1579935|PMID:16374177 19990101 RGD 61913 Gas6 growth arrest specific 6 gene DOID:9007096 Stroke ISO RGD:736280 D RGD:1579883|PMID:15108283 19990101 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1344546 D RGD:11060143|PMID:10946084 20160419 RGD protein:increased expression:Bronchoalveolar lavage,epithelial cell: 61914 Tfpi tissue factor pathway inhibitor gene DOID:0060224 atrial fibrillation IEP D RGD:1299121|PMID:14610015 20160422 RGD mRNA,protein:decreased expression:endocardium: 61914 Tfpi tissue factor pathway inhibitor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1344546 D RGD:11341694|PMID:19874310 20160630 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1344546 D RGD:11340209|PMID:20037809 20160629 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1344546 D RGD:11340215|PMID:19012190 20160629 RGD protein:decreased expression:plasma 61914 Tfpi tissue factor pathway inhibitor gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 61914 Tfpi tissue factor pathway inhibitor gene DOID:10591 pre-eclampsia ISO RGD:1344546 D RGD:11060132|PMID:10078579 20160419 RGD protein:increased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1344546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 61914 Tfpi tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura treatment ISO RGD:1344546 D RGD:11340214|PMID:7740478 20160629 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation IEP D RGD:11060265|PMID:9426395 20160420 RGD mRNA, protein:increased expression:lung, plasma 61914 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:11060128|PMID:11074537 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:11060253|PMID:8914465 20160420 RGD protein:increased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1344546 D RGD:11062067|PMID:8929465 20160422 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1344546 D RGD:11341674|PMID:8292719 20160630 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:1168 familial hyperlipidemia ISO RGD:1344546 D RGD:11060253|PMID:8914465 20160420 RGD protein:increased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:1184 nephrotic syndrome ISO RGD:1344546 D RGD:11341665|PMID:22319062 20160630 RGD protein:increased expression:plasma 61914 Tfpi tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:1344546 D RGD:11060141|PMID:24263002 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:62207 D RGD:11060147|PMID:22355108 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1344546 D RGD:11060256|PMID:24687919 20160420 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:11060254|PMID:18549615 20160420 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:11060255|PMID:12206017 20160420 RGD protein:decreased activity:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344546 D RGD:11062085|PMID:11776329 20160425 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:14566 disease of cellular proliferation ISO RGD:1344546 D RGD:11060133|PMID:11864704 20160419 RGD protein:increased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:2216 factor V deficiency ISO RGD:1344546 D RGD:11060145|PMID:18695002 20160419 RGD protein:decreased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1344546 D RGD:11062087|PMID:18067952 20160425 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:11060129|PMID:23079294 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:11060140|PMID:20002538 20160419 RGD protein:decreased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1344546 D RGD:11062084|PMID:16338226 20160425 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1344546 D RGD:11060135|PMID:23841464 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:1344546 D RGD:11340210|PMID:12695751 20160629 RGD protein:decreased expression:plasma 61914 Tfpi tissue factor pathway inhibitor gene DOID:5844 myocardial infarction ISO RGD:1344546 D RGD:11060131|PMID:15630488 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:5844 myocardial infarction ISO RGD:1344546 D RGD:11060139|PMID:14656922 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:5844 myocardial infarction treatment IEP D RGD:11062083|PMID:21229253 20160425 RGD mRNA,protein:increased expression:heart: 61914 Tfpi tissue factor pathway inhibitor gene DOID:630 genetic disease ISO RGD:1344546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61914 Tfpi tissue factor pathway inhibitor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344546 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 61914 Tfpi tissue factor pathway inhibitor gene DOID:9001268 Embolism and Thrombosis ISO RGD:1344546 D RGD:11341677|PMID:15467899 20160630 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9001650 Pregnancy-Induced Hypertension IEP D RGD:11062065|PMID:26104991 20160422 RGD mRNA:decreased expression:aorta: 61914 Tfpi tissue factor pathway inhibitor gene DOID:9001916 Fetal Death ISO RGD:62207 D RGD:11060259|PMID:9242522 20160420 RGD associated with Hemorrhage; 61914 Tfpi tissue factor pathway inhibitor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344546 D RGD:11062061|PMID:9921794 20160422 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9002514 Neointima ISO RGD:1344546 D RGD:11060274|PMID:10521388 20160420 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9002514 Neointima treatment IEP D RGD:11341672|PMID:22140576 20160630 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9002669 Hypoxia ISO RGD:1344546 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23727623 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis IEP D RGD:11062059|PMID:23063054 20160422 RGD protein:increased expression:femur head: 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:1344546 D RGD:11060260|PMID:18695356 20160420 RGD DNA:haplotype: : 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344546 D RGD:11060266|PMID:14691572 20160420 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:11060130|PMID:18600090 20160419 RGD protein:increased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:11060137|PMID:12560220 20160419 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18480984 61914 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:62207 D RGD:11060257|PMID:17973652 20160420 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344546 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61914 Tfpi tissue factor pathway inhibitor gene DOID:9004484 Sepsis IEP D RGD:2313648|PMID:15497025 20160425 RGD protein:decreased activity:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction ISO RGD:1344546 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23727623 61914 Tfpi tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction treatment ISO RGD:1344546 D RGD:11062088|PMID:23727623 20160425 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9005930 Endotoxemia treatment ISO RGD:1344546 D RGD:11062086|PMID:17537762 20160425 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344546 D RGD:11062062|PMID:11796005 20160422 RGD 61914 Tfpi tissue factor pathway inhibitor gene DOID:9007730 Burns IEP D RGD:2313648|PMID:15497025 20160425 RGD protein:decreased activity:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:9008691 Liver Injury treatment ISO RGD:1344546 D RGD:11341667|PMID:10216139 20160630 RGD associated with Endotoxemia 61914 Tfpi tissue factor pathway inhibitor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344546 D RGD:11060258|PMID:11709459 20160420 RGD protein:decreased expression:plasma: 61914 Tfpi tissue factor pathway inhibitor gene DOID:9351 diabetes mellitus ISO RGD:1344546 D RGD:11060253|PMID:8914465 20160420 RGD protein:increased expression:plasma: 61915 Stx6 syntaxin 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 61915 Stx6 syntaxin 6 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:731983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 61915 Stx6 syntaxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:731983 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 61915 Stx6 syntaxin 6 gene DOID:630 genetic disease ISO RGD:731983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61915 Stx6 syntaxin 6 gene DOID:678 progressive supranuclear palsy ISO RGD:731983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 61915 Stx6 syntaxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731983 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 61915 Stx6 syntaxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731983 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61916 Fzd1 frizzled class receptor 1 gene DOID:3459 breast carcinoma ISO RGD:736261 D RGD:2298699|PMID:15492823 20080821 RGD 61916 Fzd1 frizzled class receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736261 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61916 Fzd1 frizzled class receptor 1 gene DOID:630 genetic disease ISO RGD:736261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61917 Stx8 syntaxin 8 gene DOID:10283 prostate cancer ISO RGD:731411 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 61917 Stx8 syntaxin 8 gene DOID:630 genetic disease ISO RGD:731411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61918 Slc30a1 solute carrier family 30 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731339 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 61918 Slc30a1 solute carrier family 30 member 1 gene DOID:630 genetic disease ISO RGD:731339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61918 Slc30a1 solute carrier family 30 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731339 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61919 Slc13a1 solute carrier family 13 member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346909 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 61919 Slc13a1 solute carrier family 13 member 1 gene DOID:630 genetic disease ISO RGD:1346909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61920 Slc13a2 solute carrier family 13 member 2 gene DOID:630 genetic disease ISO RGD:736607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61921 Gpr88 G-protein coupled receptor 88 gene DOID:630 genetic disease ISO RGD:735493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61921 Gpr88 G-protein coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:7240710 20190315 OMIM 61921 Gpr88 G-protein coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation PMID:25741868|PMID:27123486|PMID:28492532 61921 Gpr88 G-protein coupled receptor 88 gene DOID:9269 maple syrup urine disease ISO RGD:735493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 61922 Scn7a sodium voltage-gated channel alpha subunit 7 gene DOID:12849 autistic disorder ISO RGD:1601888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 61922 Scn7a sodium voltage-gated channel alpha subunit 7 gene DOID:630 genetic disease ISO RGD:1601888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61923 Ddt D-dopachrome tautomerase gene DOID:1826 epilepsy ISO RGD:1353002 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 61923 Ddt D-dopachrome tautomerase gene DOID:5419 schizophrenia ISO RGD:1353002 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61923 Ddt D-dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1353002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61924 Aif1 allograft inflammatory factor 1 gene DOID:0050553 JMP syndrome ISO RGD:735562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 61924 Aif1 allograft inflammatory factor 1 gene DOID:10554 meningoencephalitis IEP D RGD:2313041|PMID:16150122 20090908 RGD protein:increased expression:brain (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:62217 D RGD:2313023|PMID:19084047 20090908 RGD protein:altered expression:hippocampus (mouse) 61924 Aif1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735562 D RGD:2313045|PMID:16340083 20090908 RGD mRNA:increased expression:frontal cortex (human) 61924 Aif1 allograft inflammatory factor 1 gene DOID:10763 hypertension ISO RGD:735562 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 61924 Aif1 allograft inflammatory factor 1 gene DOID:10825 essential hypertension ISO RGD:735562 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 61924 Aif1 allograft inflammatory factor 1 gene DOID:11372 megacolon ISO RGD:735562 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 61924 Aif1 allograft inflammatory factor 1 gene DOID:11832 visual epilepsy IEP D RGD:2313039|PMID:16635480 20090908 RGD protein:increased expression:brain (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:12098 trigeminal neuralgia ISO RGD:735562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 61924 Aif1 allograft inflammatory factor 1 gene DOID:12217 Lewy body dementia ISO RGD:735562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 61924 Aif1 allograft inflammatory factor 1 gene DOID:14330 Parkinson's disease ISO RGD:735562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 61924 Aif1 allograft inflammatory factor 1 gene DOID:1824 status epilepticus IEP D RGD:2313036|PMID:17178407 20090908 RGD protein:increased expression:dentate gyrus, brain subventricular zone (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:1969 cerebral palsy IEP D RGD:2313028|PMID:19010395 20090908 RGD protein:increased expression:corpus callosum (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:231 motor neuron disease IEP D RGD:2313029|PMID:18931666 20090908 RGD protein:increased expression:cervical spinal cord (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:2316 brain ischemia IEP D RGD:2313032|PMID:18301954 20090908 RGD protein:increased expression:cerebral cortex (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:2349 arteriosclerosis ISO RGD:62217 D RGD:2313033|PMID:18204784 20090908 RGD 61924 Aif1 allograft inflammatory factor 1 gene DOID:2921 glomerulonephritis IEP D RGD:2313038|PMID:17035944 20090908 RGD protein:increased expression:kidney (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:3454 brain infarction IEP D RGD:2313025|PMID:19053043 20090908 RGD protein:increased expression:brain subventricular zone (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:735562 D RGD:2313026|PMID:10683518 20090908 RGD protein:increased expression:brain white matter (human) 61924 Aif1 allograft inflammatory factor 1 gene DOID:630 genetic disease ISO RGD:735562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61924 Aif1 allograft inflammatory factor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2313037|PMID:17158026 20090908 RGD protein:altered expression:spinal cord dorsal horn (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735562 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 61924 Aif1 allograft inflammatory factor 1 gene DOID:9000641 Pain IEP D RGD:2313034|PMID:18186080 20090908 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:spinal cord dorsal horn (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:2313024|PMID:19070908 20090908 RGD protein:decreased expression:brain (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9000998 Brain Injuries IEP D RGD:2313020|PMID:19520144 20090908 RGD protein:increased expression:cerebral cortex (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61924 Aif1 allograft inflammatory factor 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:704401|PMID:9698327 20180329 RGD 61924 Aif1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia IEP D RGD:2313035|PMID:17284346 20090908 RGD associated with Alcohol-Induced Disorders, Nervous System; protein:increased expression:spinal cord (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 61924 Aif1 allograft inflammatory factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2313022|PMID:19246105 20090908 RGD protein:altered expression:spinal cord (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2313021|PMID:19447505 20090908 RGD protein:increased expression:right cerebral hemisphere (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2313040|PMID:16500929 20090908 RGD protein:increased expression:Kupffer cell (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9005372 Inflammation IEP D RGD:2313027|PMID:19020040 20090908 RGD protein:increased expression:dentate gyrus (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 61924 Aif1 allograft inflammatory factor 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:2313042|PMID:15710454 20090908 RGD protein:increased expression:spinal cord (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9007727 Alcohol-Induced Disorders, Nervous System IEP D RGD:2313030|PMID:18585922 20090908 RGD protein:increased expression:cortex, hippocampus (rat) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735562 D RGD:2313199|PMID:18987644 20090914 RGD DNA:polymorphism:intron:rs2259571 (human) 61924 Aif1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus onset IDA D RGD:2313043|PMID:9391121 20090908 RGD 61925 Prkce protein kinase C, epsilon gene DOID:0050700 cardiomyopathy ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15242976 61925 Prkce protein kinase C, epsilon gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736442 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 61925 Prkce protein kinase C, epsilon gene DOID:10763 hypertension IAGP D RGD:1581271|PMID:15792354 19990101 RGD 61925 Prkce protein kinase C, epsilon gene DOID:303 substance-related disorder ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 61925 Prkce protein kinase C, epsilon gene DOID:3883 Lynch syndrome ISO RGD:736442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 61925 Prkce protein kinase C, epsilon gene DOID:4248 coronary stenosis ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16782078 61925 Prkce protein kinase C, epsilon gene DOID:574 peripheral nervous system disease ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20726883 61925 Prkce protein kinase C, epsilon gene DOID:5844 myocardial infarction ISO RGD:62218 D RGD:155882580|PMID:28887629 20230131 RGD RNA:decreased expression:myocardium: 61925 Prkce protein kinase C, epsilon gene DOID:5844 myocardial infarction ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16782078 61925 Prkce protein kinase C, epsilon gene DOID:630 genetic disease ISO RGD:736442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61925 Prkce protein kinase C, epsilon gene DOID:9002165 Diabetic Nephropathies ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 61925 Prkce protein kinase C, epsilon gene DOID:9002211 Hyperalgesia ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11738263|PMID:12582831|PMID:20457222 61925 Prkce protein kinase C, epsilon gene DOID:9003936 Cardiomegaly IAGP D RGD:1581271|PMID:15792354 19990101 RGD 61925 Prkce protein kinase C, epsilon gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 61925 Prkce protein kinase C, epsilon gene DOID:9007102 Myocardial Ischemia ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61925 Prkce protein kinase C, epsilon gene DOID:9007188 Liver Neoplasms ISO RGD:736442 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 61925 Prkce protein kinase C, epsilon gene DOID:9008443 Colorectal Neoplasms ISO RGD:736442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 61925 Prkce protein kinase C, epsilon gene DOID:9352 type 2 diabetes mellitus IEP D RGD:13506804|PMID:26398746 20180216 RGD mRNA,protein:decreased expression:liver: 61926 Gjb1 gap junction protein, beta 1 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:10737979|PMID:15241803|PMID:15947997|PMID:20301548|PMID:25741868|PMID:28492532|PMID:9633821 61926 Gjb1 gap junction protein, beta 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:11030070|PMID:11140841|PMID:11252295|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11718056|PMID:11723288|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12536289|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14706470|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16301507|PMID:16373087|PMID:16401743|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18380031|PMID:18636082|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20532933|PMID:20730878|PMID:20942588|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21309765|PMID:21504505|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24078732|PMID:24290847|PMID:24327141|PMID:24444136|PMID:24484554|PMID:24627108|PMID:24724718|PMID:24768312|PMID:24863494|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25388846|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25771809|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26955336|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:28902413|PMID:29077882|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31827005|PMID:31842800|PMID:31902012|PMID:31919945|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469571|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9760211|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:11438991|PMID:11571214|PMID:15468313|PMID:18717720|PMID:20193560|PMID:23384994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28768847|PMID:9361298|PMID:9818870 61926 Gjb1 gap junction protein, beta 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:732555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 61926 Gjb1 gap junction protein, beta 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 61926 Gjb1 gap junction protein, beta 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732555 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 61926 Gjb1 gap junction protein, beta 1 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:732555 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE PMID:12402337|PMID:15241803|PMID:25741868|PMID:26467025|PMID:28492532 61926 Gjb1 gap junction protein, beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:7240710 20130221 OMIM 61926 Gjb1 gap junction protein, beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10639608|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:10931843|PMID:11140841|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11734543|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:15947997|PMID:16079393|PMID:16301507|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21326314|PMID:21504505|PMID:21692908|PMID:21918739|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23773993|PMID:23806086|PMID:23827825|PMID:23871722|PMID:24088041|PMID:24327141|PMID:24444136|PMID:25025039|PMID:25429913|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26257172|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27544631|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29077882|PMID:29086968|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:427531|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 61926 Gjb1 gap junction protein, beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20491857|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:224645664|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27098783|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:30737405|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 61926 Gjb1 gap junction protein, beta 1 gene DOID:11720 distal myopathy ISO RGD:732555 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:25741868 61926 Gjb1 gap junction protein, beta 1 gene DOID:12849 autistic disorder ISO RGD:732555 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61926 Gjb1 gap junction protein, beta 1 gene DOID:13619 extrahepatic cholestasis IEP D RGD:7349397|PMID:7762611 20130930 RGD mRNA,protein:decreased expression:liver: 61926 Gjb1 gap junction protein, beta 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:732555 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 61926 Gjb1 gap junction protein, beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264126 61926 Gjb1 gap junction protein, beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 61926 Gjb1 gap junction protein, beta 1 gene DOID:630 genetic disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10093067|PMID:10102421|PMID:10207904|PMID:10234007|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586291|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11571214|PMID:11718056|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12542510|PMID:14627639|PMID:14663027|PMID:14706470|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16476939|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17646144|PMID:18254389|PMID:18379723|PMID:18636082|PMID:18714809|PMID:19062535|PMID:19193385|PMID:19259128|PMID:19297523|PMID:19369543|PMID:20039784|PMID:20128140|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21692908|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23649551|PMID:23871722|PMID:24078732|PMID:25025039|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27228968|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:29077882|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33136338|PMID:33314704|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8737658|PMID:8800924|PMID:8816997|PMID:9018031|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9469571|PMID:9592087|PMID:9600589|PMID:9633821 61926 Gjb1 gap junction protein, beta 1 gene DOID:657 adenoma ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 61926 Gjb1 gap junction protein, beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 61926 Gjb1 gap junction protein, beta 1 gene DOID:7188 autoimmune thyroiditis IEP D RGD:7349390|PMID:8770903 20130930 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: 61926 Gjb1 gap junction protein, beta 1 gene DOID:870 neuropathy ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 61926 Gjb1 gap junction protein, beta 1 gene DOID:9000641 Pain ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:16096811|PMID:21291455|PMID:22243284|PMID:25388846|PMID:25741868|PMID:26467025|PMID:28448691|PMID:28492532 61926 Gjb1 gap junction protein, beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 61926 Gjb1 gap junction protein, beta 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:7349398|PMID:1336494 20130930 RGD 61926 Gjb1 gap junction protein, beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18308698 61926 Gjb1 gap junction protein, beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25530438 61926 Gjb1 gap junction protein, beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732555 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15492231|PMID:16926031 61926 Gjb1 gap junction protein, beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:732555 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 61926 Gjb1 gap junction protein, beta 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:732555 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 61926 Gjb1 gap junction protein, beta 1 gene DOID:9008305 Talipes Cavus ISO RGD:732555 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868 61926 Gjb1 gap junction protein, beta 1 gene DOID:9008681 Deafness treatment ISO RGD:62219 D RGD:7364894|PMID:21813206 20131008 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0002116 pterygium ISO RGD:1349615 D RGD:6771360|PMID:21892527 20120730 RGD protein:increased expression:conjunctiva (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050852 limb ischemia ISO RGD:62220 D RGD:6767285|PMID:22369073 20120705 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050852 limb ischemia ISO RGD:62220 D RGD:6906905|PMID:21940947 20121019 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050853 chronic venous insufficiency ISO RGD:1349615 D RGD:6484725|PMID:22737245 20120703 RGD protein:increased expression:saphenous vein, venous endothelial cell (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349615 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1349615 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PMID:8532023 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:10923 sickle cell anemia severity ISO RGD:1349615 D RGD:11541101|PMID:20306667 20161007 RGD protein:increased expression:serum (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1115 sarcoma ISO RGD:62220 D RGD:6771216|PMID:21760628 20120719 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11382 corneal neovascularization ISO RGD:62220 D RGD:6771213|PMID:21719569 20120719 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11382 corneal neovascularization ISO RGD:62220 D RGD:6771229|PMID:22553751 20120723 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349615 D RGD:6767304|PMID:22456311 20120709 RGD protein:increased expression:serum (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:62220 D RGD:2311657|PMID:10329590 20090728 RGD associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349615 D RGD:6771226|PMID:22697005 20120723 RGD protein:decreased expression:T cell (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12377 spinal muscular atrophy ISO RGD:62220 D RGD:6767297|PMID:22153987 20120706 RGD protein:decreased expression:levator auris longus, transversus abdominis (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17509538 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:6484728|PMID:22717029 20120703 RGD protein:decreased expression:plasma (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:1349615 D RGD:6771318|PMID:22331014 20120725 RGD protein:increased expression:esophagus (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1349615 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1588 thrombocytopenia ISO RGD:1349615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:62220 D RGD:6771176|PMID:22053073 20120716 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis resistance ISO RGD:62220 D RGD:6771223|PMID:17659202 20120720 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis severity ISO RGD:1349615 D RGD:6771359|PMID:21960570 20120730 RGD protein:increased expression:carotid artery (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:224 transient cerebral ischemia ISO RGD:62220 D RGD:6766379|PMID:22382321 20121022 RGD protein:increased expression:brain (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:2394 ovarian cancer severity ISO RGD:1349615 D RGD:11541094|PMID:25502723 20161007 RGD protein:increased expression:female gonad (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:2518 orchitis IEP D RGD:6767571|PMID:22351899 20120713 RGD protein:increased expression:testes, endothelial cells (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349615 D RGD:5490168|PMID:19635508 20200527 RGD mRNA, protein:increased expression:lung (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3068 glioblastoma ISO RGD:62220 D RGD:6771207|PMID:21858729 20120718 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3192 neurilemmoma severity ISO RGD:1349615 D RGD:6771228|PMID:22555941 20120723 RGD protein:increased expression:tumor (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:1581010|PMID:12732396 19990101 RGD DNA:polymorphism:5' utr:g.53G>A (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:2311656|PMID:11795274 20061120 RGD DNA:missense mutations:cds:p.N536S, p.G670R (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease no_association ISO RGD:1349615 D RGD:6771225|PMID:10780329 20120720 RGD DNA:missense mutation:cds:p.L125V (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1349615 D RGD:150404268|PMID:23632475 20210903 RGD human cells in mouse model 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:417 autoimmune disease ISO RGD:1349615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:62220|RGD:1349615 D RGD:11541095|PMID:20228226 20161007 RGD protein:decreased expression:superficial vasculature (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:4248 coronary stenosis ISO RGD:1349615 D RGD:1598382|PMID:10571959 20120720 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:1349615 D RGD:6771231|PMID:22465620 20120724 RGD protein:increased expression:blood microparticle (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:1349615 D RGD:6771224|PMID:15488875 20120720 RGD DNA:missense mutation:cds:p.R643G (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction no_association ISO RGD:1349615 D RGD:1581009|PMID:15265022 19990101 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction onset ISO RGD:1349615 D RGD:2311656|PMID:11795274 20090728 RGD DNA:polymorphisms: :p.N563S, p.G670R (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension treatment IDA D RGD:10400914|PMID:22559233 20161007 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:680 tauopathy ISO RGD:62220 D RGD:6771210|PMID:21839061 20120719 RGD protein:increased expression:brain, blood vessel (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:769 neuroblastoma ISO RGD:1349615 D RGD:6767296|PMID:22174364 20120706 RGD human tumor in mouse model 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:799 varicose veins ISO RGD:1349615 D RGD:11529441|PMID:26808710 20221107 RGD mRNA,protein:decreased expression:endothelium: 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:62220 D RGD:6771178|PMID:21979132 20120716 RGD protein:increased expression:gingiva, blood vessels (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8283 peritonitis treatment ISO RGD:62220 D RGD:11541096|PMID:8113674 20161007 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8398 osteoarthritis IEP D RGD:6771362|PMID:21864409 20120730 RGD mRNA:increased expression:tibia (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:853 polymyalgia rheumatica ISO RGD:1349615 D RGD:6771319|PMID:22211720 20120725 RGD protein:increased expression:plasma, endothelial microparticle (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349615 D RGD:11552593|PMID:16521495 20161012 RGD protein:increased expression:serum (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8692 myeloid leukemia ISO RGD:1349615 D RGD:11541098|PMID:23772643 20161007 RGD mRNA:increased expression:blood (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:874 bacterial pneumonia IEP D RGD:724645|PMID:12524254 20150115 RGD protein:decreased expression:lung 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000310 Lung Injury ISO RGD:62220 D RGD:6771215|PMID:22806890 20120719 RGD protein:increased tyrosine phosphorylation:lung (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000352 Vascular System Injuries IDA D RGD:6484736|PMID:22552115 20120703 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000528 Coronary Disease ISO RGD:1349615 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:8532023 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:1349615 D RGD:6771175|PMID:22092840 20120716 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:62220 D RGD:6771227|PMID:22615899 20120723 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:6767294|PMID:22227376 20120706 RGD mRNA:altered expression:jejunum, duodenum, ileum (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000998 Brain Injuries IDA D RGD:6484732|PMID:22658532 20120703 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349615 D RGD:6767292|PMID:22336504 20120706 RGD protein:increased expression:coronary artery, intima (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349615 D RGD:2311655|PMID:15042541 20090728 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1349615 D RGD:11541127|PMID:12673718 20161010 RGD protein:increased expression:B cell (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:6484738|PMID:22548760 20120703 RGD protein:increased expression:knee joint, blood vessels (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:6771177|PMID:21982514 20120716 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:62220 D RGD:6771222|PMID:14613294 20120720 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:62220 D RGD:6771356|PMID:22101032 20120730 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002493 Ocular Neovascularization treatment ISO RGD:62220 D RGD:11541082|PMID:20538980 20161020 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002589 Bone Fractures ISO RGD:62220 D RGD:6771211|PMID:21788831 20120719 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:62220 D RGD:6771355|PMID:22832932 20120730 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003204 Neovascularization, Pathologic treatment ISO RGD:62220 D RGD:11541082|PMID:20538980 20161007 RGD Ocular Neovascularization 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1349615 D RGD:11541089|PMID:25846278 20161007 RGD DNA:missense mutation:cds:p.L125V (human) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:6771206|PMID:21872880 20120718 RGD protein:decreased expression:lung (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:2311660|PMID:12121711 20090728 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62220 D RGD:6766379|PMID:22382321 20120705 RGD protein:increased expression:brain (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:62220 D RGD:6771205|PMID:22451518 20120718 RGD protein:increased expression:myeloid suppressor cell (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia ISO RGD:1349615 D RGD:11541093|PMID:10942385 20161007 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia severity ISO RGD:62220 D RGD:11541120|PMID:17234740 20161010 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004610 Acute Lung Injury IDA D RGD:6483494|PMID:22592748 20120703 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6771179|PMID:21967314 20120716 RGD protein:decreased expression:corpus callosum, endothelium (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005721 Preeclamptic Toxemia ISO RGD:1349615 D RGD:6771230|PMID:22534418 20120723 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:62220 D RGD:6771174|PMID:22119535 20120716 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury IDA D RGD:6771212|PMID:21781312 20120719 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury IEP D RGD:11541083|PMID:16449942 20161007 RGD protein:increased expression:alveolar macrophage (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2311662|PMID:8989147 20090728 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008 psoriatic arthritis ISO RGD:1349615 D RGD:6771221|PMID:22751595 20120720 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:6767293|PMID:22336118 20120706 RGD protein:increased expression:optic nerve (rat) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:62220 D RGD:6771214|PMID:21702037 20120719 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:62220 D RGD:6771361|PMID:21890879 20120730 RGD 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62220 D RGD:6771358|PMID:21984919 20120730 RGD protein:increased expression:bone marrow stem cell (mouse) 61927 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9643 babesiosis ISO RGD:1349615 D RGD:11541121|PMID:25539588 20170104 RGD protein:decreased expression:serum (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730935 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:28434932 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0050852 limb ischemia IEP D RGD:1626332|PMID:17522350 20070801 RGD protein:increased expression:skeletal muscle 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:2306227|PMID:16080559 20090326 RGD protein:altered localization:nucleus 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060221 Maffucci syndrome ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:730935 D RGD:8695924|PMID:19211267 20140806 RGD protein:increased expression:right atrium appendage, cytoplasm (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0080322 polycystic kidney disease IEP D RGD:10395372|PMID:17322369 20150903 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:730935 D RGD:2306223|PMID:19106642 20090326 RGD DNA, protein:polymorphism, increased expression:exon, prostate gland:1772C>T (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:730935 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:730935 D RGD:155631283|PMID:22840297 20221031 RGD protein:increased expression:chorionic villus (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:62221 D RGD:9068888|PMID:21904637 20140821 RGD protein:increased expression:brain, microvessel (mouse) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:730935 D RGD:9068875|PMID:16627934 20140821 RGD mRNA, protein:increased expression:cerebral cortex, microvessel (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:1074 kidney failure IEP D RGD:1626324|PMID:15583217 20070801 RGD associated with Hypertension;protein:increased expression:kidney 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension IEP D RGD:1626317|PMID:16955051 20070801 RGD protein:increased expression:brain 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension IEP D RGD:1626330|PMID:11882589 20070801 RGD associated with Hypercholesterolemia;protein:increased expression:aorta 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22349312 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:1626322|PMID:15862159 20070801 RGD Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:730935 D RGD:8694474|PMID:12838021 20140805 RGD protein:increased expression:auditory canal, epidermis (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11054 urinary bladder cancer ISO RGD:730935 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia treatment IEP D RGD:10395385|PMID:23065129 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11721 glycogen storage disease VII ISS RGD:62221 D RGD:13592920 20180518 MouseDO OMIM:232800 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11981 morbid obesity ISO RGD:730935 D RGD:1626320|PMID:16046292 20070801 RGD mRNA:increased expression:subcutaneous adipose tissue 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:12337 varicocele IEP D RGD:9068459|PMID:25095617 20140819 RGD protein:increased expression:epididymus (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:12510 retinal ischemia treatment IEP D RGD:10755711|PMID:23537149 20170724 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:13413 hepatic encephalopathy IEP D RGD:10395388|PMID:24382264 20150904 RGD associated with Hypertension, Portal 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:13948 bladder neck obstruction IEP D RGD:9068887|PMID:12118092 20140821 RGD protein:increased expression:urinary bladder (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:14268 sclerosing cholangitis ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:1682 congenital heart disease ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:1793 pancreatic cancer ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16628086 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2154 nephroblastoma severity ISO RGD:730935 D RGD:2291911|PMID:17937859 20090326 RGD protein:increased expression:kidney 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia IEP D RGD:9068877|PMID:20417628 20140821 RGD protein:increased expression:cerebral cortex, caudoputamen (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155663419|PMID:30258350 20221116 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia IEP D RGD:9068892|PMID:17101276 20140821 RGD mRNA, protein:increased expression:cerebral cortex (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:62221 D RGD:1626331|PMID:17554006 20070801 RGD protein:increased expression:brain 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19429140 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia treatment IDA D RGD:9068895|PMID:18369388 20140821 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2394 ovarian cancer disease_progression ISO RGD:730935 D RGD:2306225|PMID:19014607 20090326 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2746 glycogen storage disease V ISS RGD:62221 D RGD:13592920 20180518 MouseDO OMIM:232600 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2841 asthma treatment ISO RGD:62221 D RGD:10402541|PMID:18160846 20151026 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:730935 D RGD:2306227|PMID:16080559 20090326 RGD protein:altered localization:nucleus 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure IEP D RGD:10395376|PMID:15673301 20150903 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure IEP D RGD:9068894|PMID:18593636 20140821 RGD mRNA:increased expression:renal cortex (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure treatment IDA D RGD:10395386|PMID:16762988 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:305 carcinoma ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3068 glioblastoma ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3069 malignant astrocytoma ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3454 brain infarction exacerbates IMP D RGD:155663378|PMID:30052311 20221115 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:9068917|PMID:21029239 20140822 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3526 cerebral infarction severity ISO RGD:730935 D RGD:155260326|PMID:34708885 20220930 RGD protein:increased expression:blood serum (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:369 olfactory neuroblastoma severity ISO RGD:730935 D RGD:8694471|PMID:18431543 20140805 RGD protein:increased expression:neuroblastoma (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730935 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:17201171 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:730935 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730935 D RGD:10395382|PMID:21812995 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4449 macular retinal edema ISO RGD:730935 D RGD:155582223|PMID:35799735 20221014 RGD associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730935 D RGD:2306222|PMID:19302703 20090326 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4624 Ollier disease ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868|PMID:28492532 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5082 liver cirrhosis ISO RGD:730935 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:36126797 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5241 hemangioblastoma ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5688 Werner syndrome treatment ISO RGD:62221 D RGD:10402544|PMID:19741171 20151026 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:576 proteinuria IEP D RGD:155882534|PMID:31784544 20230126 RGD mRNA, protein:increased expression:brain,kidney (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction IEP D RGD:1580977|PMID:15247145 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction IEP D RGD:5147886|PMID:18484163 20110826 RGD mRNA:increased expression:heart left ventricle 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ameliorates IEP D RGD:329333030|PMID:28622474 20230426 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction treatment ISO RGD:730935 D RGD:9068466|PMID:15999059 20140820 RGD human gene in a rat model 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure IEP D RGD:9068910|PMID:17582388 20140822 RGD protein:increased expression:heart right ventricle (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15732037 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:630 genetic disease ISO RGD:730935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension IEP D RGD:10395375|PMID:16215633 20150903 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension IEP D RGD:1601553|PMID:17213961 20070801 RGD associated with Anoxia;protein:increased expression:pulmonary artery 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:11526468|PMID:26078356 20200508 RGD protein:increased expression:liver (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:155882550|PMID:31321740 20230130 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma treatment IMP D RGD:9068886|PMID:19335982 20140821 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:730935 D RGD:10395366|PMID:12823854 20150903 RGD protein:increased expression:layer of synovial tissue, stromal cell 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:62221 D RGD:10402406|PMID:18789153 20151023 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:730935 D RGD:10395366|PMID:12823854 20150903 RGD protein:increased expression:layer of synovial tissue, stromal cell 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:850 lung disease ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20152896 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8691 mycosis fungoides ISO RGD:730935 D RGD:8695934|PMID:24127318 20140806 RGD protein:increased expression:epidermis, dermis (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8717 decubitus ulcer IEP D RGD:8694460|PMID:20223667 20140805 RGD mRNA, protein:increased expression:deep dorsal muscles (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:10395383|PMID:17495954 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:8695945|PMID:23517877 20140806 RGD protein:increased expression:serum (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8923 skin melanoma ISO RGD:730935 D RGD:8695922|PMID:19558170 20140806 RGD protein:increased expression:epidermis (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy IEP D RGD:7364887|PMID:22110070 20140807 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy severity ISO RGD:730935 D RGD:8694462|PMID:17229797 20140805 RGD protein:increased expression:retina, vascular endothelial cell (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy treatment IDA D RGD:8696025|PMID:20515763 20140811 RGD associated with Diabetes Mellitus, Experimental 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5148013|PMID:21092735 20120322 RGD protein:increased expression:spinal cord 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000111 Radiation Injuries treatment ISO RGD:730935 D RGD:8695920|PMID:17340073 20140806 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:1626323|PMID:15703702 20070801 RGD protein:increased expression:brain 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000585 Intervertebral Disc Disease IEP D RGD:9068928|PMID:21243740 20140822 RGD protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:9068912|PMID:15161688 20140822 RGD protein:increased expression:white matter of spinal cord (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23065176 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000918 Disease Progression ISO RGD:730935 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001041 Asphyxia IEP D RGD:9068458|PMID:17285858 20140819 RGD mRNA, protein:increased expression:myocardium, lung (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001044 Choroidal Neovascularization treatment IEP D RGD:12859045|PMID:21063852 20221130 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:9068897|PMID:17085342 20140821 RGD mRNA:increased expression:liver (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001390 Testis Reperfusion Injury IEP D RGD:632997|PMID:12193413 20140822 RGD protein:increased expression:testes (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001968 Hot Flashes susceptibility ISO RGD:730935 D RGD:8695942|PMID:18785001 20140806 RGD DNA:snp:exon:c.1744C>T (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002141 Anaplasia ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:10395374|PMID:17967803 20150903 RGD associated with Diabetes Mellitus, Type 2 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10395377|PMID:17914354 20150903 RGD associated with Diabetes Mellitus, Experimental 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730935 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002211 Hyperalgesia IEP D RGD:9068903|PMID:18691814 20140821 RGD associated with Limb Ischemia;protein:increased expression:foot muscle, plantar 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16205110 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:8693318|PMID:21679445 20140807 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:62221 D RGD:9068455|PMID:20220049 20140819 RGD mRNA:increased expression:retina (mouse) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:62221 D RGD:8695923|PMID:18087198 20140806 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:62221 D RGD:8695948|PMID:21787680 20140806 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002928 Colonic Neoplasms severity ISO RGD:730935 D RGD:10395382|PMID:21812995 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003049 Femur Head Necrosis IEP D RGD:11087286|PMID:26261616 20180906 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003646 Arterial Thrombosis IEP D RGD:8695963|PMID:22351094 20140807 RGD protein:increased expression:plantar, foot muscle (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:155882534|PMID:31784544 20230126 RGD mRNA, protein:increased expression:brain,kidney (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9068873|PMID:18210138 20140821 RGD protein:increased expression:brain (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia treatment IDA D RGD:9068901|PMID:19595151 20140821 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15942707 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:9068924|PMID:16465055 20140822 RGD Spinal Cord Reperfusion Injury 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:9068927|PMID:23816242 20140822 RGD Limb Reperfusion Injury 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004240 Phyllodes Tumor severity ISO RGD:730935 D RGD:8694472|PMID:16168127 20140805 RGD protein:increased expression:breast (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004464 Skin Neoplasms ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276359 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730935 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:12811834|PMID:29501572 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:730935 D RGD:2306226|PMID:18304212 20090326 RGD protein:increased expression:renal/urinary system 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004713 Acute-Phase Reaction IEP D RGD:10395370|PMID:19840250 20150903 RGD mRNA, protein:increased expression:liver 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:62221 D RGD:10402540|PMID:18067744 20151026 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis treatment IMP D RGD:10402191|PMID:24023068 20151019 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005175 Ulcer IEP D RGD:632996|PMID:12368217 20140821 RGD protein:increased expression:esophagus (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:2293194|PMID:17280655 20140807 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005600 Infarction IEP D RGD:10395384|PMID:12911537 20150904 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8694461|PMID:15663958 20140805 RGD protein:increased expression:sciatic nerve (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury severity IMP D RGD:9068883|PMID:22432008 20140821 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:1626334|PMID:17519789 20070801 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006281 Temporomandibular Joint Disorders IEP D RGD:10402539|PMID:20171183 20151026 RGD protein:increased expression:temporomandibular joint, cartilage 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:10395381|PMID:23603807 20150903 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23065176 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007102 Myocardial Ischemia IEP D RGD:9068465|PMID:17335664 20140820 RGD mRNA, protein:increased expression:myocardium (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730935 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29501572 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007730 Burns IEP D RGD:9068477|PMID:19439119 20140820 RGD protein:increased expression:Peyer's patches (rat) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:62221 D RGD:8695956|PMID:21414312 20140807 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1626327|PMID:12189448 20070801 RGD mRNA:increased expression:heart 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5147885|PMID:19727523 20110826 RGD protein:increased expression:myocardium 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18549825|PMID:22050707 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:9068872|PMID:20170615 20140821 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:10402542|PMID:24072673 20151026 RGD protein:increased expression:hippocampus 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008023 Memory Disorders treatment ISO RGD:62221 D RGD:10402407|PMID:22547371 20151023 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008138 Ductal Carcinoma ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008212 Diabetic Foot ISO RGD:730935 D RGD:155260332|PMID:34293021 20220930 RGD mRNA,protein:decreased expression:blood serum, foot (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:2306224|PMID:19064988 20090326 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730935 D RGD:2293195|PMID:17245699 20090326 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9256 colorectal cancer ameliorates ISO RGD:730935 D RGD:151893289|PMID:30789971 20220420 RGD human cells in mouse model 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10395377|PMID:17914354 20150903 RGD 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus IEP D RGD:625730|PMID:12234789 20070801 RGD protein:increased expression:heart blood vessel 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:730935 D RGD:8695972|PMID:23244125 20140807 RGD associated with Breast Neoplasms;protein:increased expression:serum (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730935 D RGD:8695936|PMID:16046581 20140806 RGD DNA:missense mutation:cds:p.P582S (human) 61928 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9970 obesity ISO RGD:730935 D RGD:155882550|PMID:31321740 20230130 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: 61929 Preb prolactin regulatory element binding gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 61929 Preb prolactin regulatory element binding gene DOID:630 genetic disease ISO RGD:1352675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:736742 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1059 intellectual disability ISO RGD:736742 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:2746 glycogen storage disease V ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:630 genetic disease ISO RGD:736742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 61930 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 61931 Zfp292 zinc finger protein 292 gene DOID:1059 intellectual disability ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25363760|PMID:25741868|PMID:28492532|PMID:31723249 61931 Zfp292 zinc finger protein 292 gene DOID:1826 epilepsy ISO RGD:1354082 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61931 Zfp292 zinc finger protein 292 gene DOID:630 genetic disease ISO RGD:1354082 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31723249 61931 Zfp292 zinc finger protein 292 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354082 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 61931 Zfp292 zinc finger protein 292 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354082 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 61931 Zfp292 zinc finger protein 292 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: ZNF292-related neurodevelopmental condition PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30564305|PMID:31723249 61931 Zfp292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:7240710 20210303 OMIM 61931 Zfp292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:28808027|PMID:30564305|PMID:31723249 61931 Zfp292 zinc finger protein 292 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868 61931 Zfp292 zinc finger protein 292 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25559195 61931 Zfp292 zinc finger protein 292 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1354082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868 61932 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I IMP D RGD:14398823|PMID:27510266 20190502 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I IMP D RGD:14398827|PMID:29507093 20190502 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:14401587|PMID:27397503 20190513 RGD associated with liver disease;DNA:missense mutation:cds:p.R142G (human) 61932 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:7240710 20180425 OMIM 61932 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:10073910|PMID:10508789|PMID:11196105|PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:12555948|PMID:1401056|PMID:14691918|PMID:15187789|PMID:15465000|PMID:15638932|PMID:16199547|PMID:16521249|PMID:17576681|PMID:19569981|PMID:20301688|PMID:21117323|PMID:21752152|PMID:21764616|PMID:22145516|PMID:22554029|PMID:22802474|PMID:22884142|PMID:22975760|PMID:23000314|PMID:23193487|PMID:23225041|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:23927806|PMID:24016420|PMID:24033266|PMID:24516753|PMID:24555242|PMID:24756054|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25564536|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27093575|PMID:27397503|PMID:27814443|PMID:28039895|PMID:28468868|PMID:28492532|PMID:28755182|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:306090409|PMID:30954369|PMID:31030436|PMID:31300554|PMID:31568711|PMID:31965297|PMID:31998365|PMID:32832707|PMID:7550234|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8005583|PMID:8028615|PMID:8076937|PMID:8162054|PMID:8204664|PMID:8318997|PMID:8364576|PMID:8557261|PMID:8723690|PMID:8723698|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 61932 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I treatment ISO RGD:62225 D RGD:14401588|PMID:30368954 20190513 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:733367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Navajo neurohepatopathy PMID:16199547|PMID:25681080|PMID:25741868|PMID:28492532|PMID:9101289|PMID:9633815 61932 Fah fumarylacetoacetate hydrolase gene DOID:0080600 COVID-19 ISO RGD:733367 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61932 Fah fumarylacetoacetate hydrolase gene DOID:10763 hypertension IEP D RGD:1559295|PMID:15731461 20081112 RGD mRNA:decreased expression:kidney 61932 Fah fumarylacetoacetate hydrolase gene DOID:2717 Bloom syndrome ISO RGD:733367 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61932 Fah fumarylacetoacetate hydrolase gene DOID:409 liver disease ISO RGD:62225 D RGD:737742|PMID:7545495 19990101 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:5082 liver cirrhosis IMP D RGD:14398823|PMID:27510266 20190502 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:630 genetic disease ISO RGD:733367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61932 Fah fumarylacetoacetate hydrolase gene DOID:687 hepatoblastoma ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 61932 Fah fumarylacetoacetate hydrolase gene DOID:9007874 Liver Failure IMP D RGD:14398823|PMID:27510266 20190502 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:9256 colorectal cancer ISO RGD:733367 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 61932 Fah fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:62225 D RGD:737743|PMID:11209059 19990101 RGD 61932 Fah fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:733367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12899938|PMID:23895425 61932 Fah fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:733367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia PMID:20301688|PMID:25741868|PMID:28492532|PMID:7977370 61934 Azin1 antizyme inhibitor 1 gene DOID:0111590 Cohen syndrome ISO RGD:731863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 61934 Azin1 antizyme inhibitor 1 gene DOID:11339 pneumocystosis IEP D RGD:14700806|PMID:19158080 20190819 RGD mRNA:increased expression:alveolar macrophage 61934 Azin1 antizyme inhibitor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731863 D RGD:14700707|PMID:24302582 20190813 RGD 61934 Azin1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:14700702|PMID:21586232 20190812 RGD associated with hepatitis B;DNA SNP: :rs2679757 (human) 61934 Azin1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:14700705|PMID:23291631 20190812 RGD associated with hepatocellular carcinoma;RNA:increased editing:liver 61934 Azin1 antizyme inhibitor 1 gene DOID:630 genetic disease ISO RGD:731863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61934 Azin1 antizyme inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731863 D RGD:14700705|PMID:23291631 20190812 RGD RNA:increased editing:liver 61934 Azin1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:14700703|PMID:30563560 20190812 RGD associated with stomach cancer;RNA:increased editing:stomach 61934 Azin1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:14700704|PMID:29925690 20190812 RGD associated with colorectal cancer;RNA:increased editing:colorectum 61934 Azin1 antizyme inhibitor 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:14700801|PMID:26751697 20190819 RGD 61935 Pla2g10 phospholipase A2, group X gene DOID:630 genetic disease ISO RGD:736427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1342518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:1074 kidney failure IEP D RGD:7243878|PMID:21167265 20130520 RGD mRNA, protein:decreased expression:kidney cortex 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:13619 extrahepatic cholestasis IEP D RGD:7243879|PMID:20814153 20130520 RGD protein:increased expression:kidney 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:1852 intrahepatic cholestasis IEP D RGD:7243885|PMID:19002567 20130520 RGD mRNA, protein:decreased expression:kidney 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia IEP D RGD:7243882|PMID:15748710 20130520 RGD mRNA, protein:decreased expression:kidney 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia treatment ISO RGD:62229 D RGD:7243180|PMID:21909718 20130510 RGD 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia treatment ISO RGD:62229 D RGD:7244192|PMID:21154198 20130528 RGD 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure IEP D RGD:7243880|PMID:18612803 20130520 RGD mRNA:decreased expression:kidney 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure susceptibility ISO RGD:1342518 D RGD:7243884|PMID:19625999 20130520 RGD DNA:SNP: :808G>T (rs316019) human 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure treatment IDA D RGD:7243179|PMID:22414646 20130510 RGD 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:557 kidney disease ISO RGD:1342518 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22525860 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:630 genetic disease ISO RGD:1342518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease IEP D RGD:7243177|PMID:23280877 20130510 RGD 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease IEP D RGD:7243883|PMID:12110012 20130520 RGD protein:decreased expression:kidney, plasma membrane 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:9000046 Poisoning ISO RGD:1342518 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22525860 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:62229 D RGD:7243178|PMID:23228442 20130510 RGD mRNA:decreased expression:kidney 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312728|PMID:19356064 20130520 RGD protein:decreased expression:kidney 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:9005930 Endotoxemia treatment IDA D RGD:7243881|PMID:18313662 20130520 RGD 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7243877|PMID:21835768 20130520 RGD 61936 Slc22a2 solute carrier family 22 member 2 gene DOID:9970 obesity ISO RGD:1342518 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 61937 Nrbf2 nuclear receptor binding factor 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 61937 Nrbf2 nuclear receptor binding factor 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1346110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 61937 Nrbf2 nuclear receptor binding factor 2 gene DOID:630 genetic disease ISO RGD:1346110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61938 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 61938 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1059 intellectual disability ISO RGD:1351680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61938 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 61938 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:2746 glycogen storage disease V ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 61938 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:3070 high grade glioma ISO RGD:1351680 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 61938 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:630 genetic disease ISO RGD:1351680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61939 Nckap1 NCK-associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732467 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 61939 Nckap1 NCK-associated protein 1 gene DOID:1059 intellectual disability ISO RGD:732467 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 61939 Nckap1 NCK-associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732467 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868 61939 Nckap1 NCK-associated protein 1 gene DOID:630 genetic disease ISO RGD:732467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61939 Nckap1 NCK-associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732467 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 61939 Nckap1 NCK-associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NCKAP1-Related Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33157009 61939 Nckap1 NCK-associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732467 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741875 61940 Napsa napsin A aspartic peptidase gene DOID:2661 myoepithelioma ISO RGD:1347374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 61940 Napsa napsin A aspartic peptidase gene DOID:630 genetic disease ISO RGD:1347374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61941 Robo1 roundabout guidance receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:735617 D RGD:242905189|PMID:33236535 20230327 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium 61941 Robo1 roundabout guidance receptor 1 gene DOID:0080205 CAKUT ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30692597|PMID:35227688 61941 Robo1 roundabout guidance receptor 1 gene DOID:0080745 polymyositis ISO RGD:735617 D RGD:243048425|PMID:32213157 20230330 RGD mRNA,protein:increased expression:muscle 61941 Robo1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:7240710 20230505 OMIM 61941 Robo1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive PMID:35348658 61941 Robo1 roundabout guidance receptor 1 gene DOID:10223 dermatomyositis ISO RGD:735617 D RGD:243048425|PMID:32213157 20230330 RGD mRNA,protein:increased expression:muscle 61941 Robo1 roundabout guidance receptor 1 gene DOID:10488 imperforate anus ISO RGD:735617 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 61941 Robo1 roundabout guidance receptor 1 gene DOID:1059 intellectual disability ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28600779 61941 Robo1 roundabout guidance receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:735617 D RGD:243048428|PMID:22262697 20230330 RGD mRNA,protein:increased expression:placenta 61941 Robo1 roundabout guidance receptor 1 gene DOID:12849 autistic disorder ISO RGD:735617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 61941 Robo1 roundabout guidance receptor 1 gene DOID:1324 lung cancer ISS RGD:62234 D RGD:13592920 20180518 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 61941 Robo1 roundabout guidance receptor 1 gene DOID:14766 renal agenesis ISO RGD:735617 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:29194579 61941 Robo1 roundabout guidance receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:243048427|PMID:25691540 20230330 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:1682 congenital heart disease ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26489027|PMID:27854360|PMID:28286008|PMID:28492532|PMID:30712880 61941 Robo1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia IEP D RGD:11573340|PMID:26764532 20230330 RGD protein:increased expression:hippocampus 61941 Robo1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia IEP D RGD:243048429|PMID:27686659 20230330 RGD protein:increased expression:brain, astrocyte 61941 Robo1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:62234 D RGD:243048431|PMID:23473743 20230330 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:2975 cystic kidney disease ISS RGD:62234 D RGD:13592920 20180518 MouseDO 61941 Robo1 roundabout guidance receptor 1 gene DOID:299 adenocarcinoma ISO RGD:735617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 61941 Robo1 roundabout guidance receptor 1 gene DOID:3721 plasmacytoma ameliorates ISO RGD:735617 D RGD:243048419|PMID:34268498 20230329 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:3908 lung non-small cell carcinoma IEP D RGD:2314868|PMID:15264215 20091202 RGD mRNA:altered expression:lung 61941 Robo1 roundabout guidance receptor 1 gene DOID:630 genetic disease ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61941 Robo1 roundabout guidance receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:735617 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28592524 61941 Robo1 roundabout guidance receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735617 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 61941 Robo1 roundabout guidance receptor 1 gene DOID:8947 diabetic retinopathy IEP D RGD:243048421|PMID:28973045 20230329 RGD mRNA,protein:increased expression:retina 61941 Robo1 roundabout guidance receptor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:243048440|PMID:27893610 20230331 RGD mRNA,protein:increased expression:spinal cord: 61941 Robo1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries IEP D RGD:2316136|PMID:16262652 20100126 RGD mRNA:increased expression:brain 61941 Robo1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries IEP D RGD:243048437|PMID:26550694 20230331 RGD protein:increased expression:brain, immune cell 61941 Robo1 roundabout guidance receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735617 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 61941 Robo1 roundabout guidance receptor 1 gene DOID:9003086 Congenital Nystagmus 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 61941 Robo1 roundabout guidance receptor 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:62234 D RGD:242905189|PMID:33236535 20230327 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates IMP D RGD:242905191|PMID:31356825 20230327 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28402530|PMID:30530901|PMID:31448886 61941 Robo1 roundabout guidance receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 61941 Robo1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 61941 Robo1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 PMID:25741868|PMID:28402530|PMID:31448886 61941 Robo1 roundabout guidance receptor 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:243048443|PMID:26841069 20230331 RGD mRNA:increased expression:carotid artery 61941 Robo1 roundabout guidance receptor 1 gene DOID:9007661 Dwarfism ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25410734 61941 Robo1 roundabout guidance receptor 1 gene DOID:9008104 Cancer Pain exacerbates IMP D RGD:243048441|PMID:26738857 20230331 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:9538 multiple myeloma ameliorates ISO RGD:735617 D RGD:243048419|PMID:34268498 20230329 RGD 61941 Robo1 roundabout guidance receptor 1 gene DOID:9649 congenital nystagmus ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:25741868|PMID:28492532 61942 Pde3a phosphodiesterase 3A gene DOID:0060903 thrombosis ISO RGD:734436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17482796 61942 Pde3a phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25961942 61942 Pde3a phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:7240710 20150702 OMIM 61942 Pde3a phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilginturan syndrome PMID:25741868|PMID:25961942|PMID:28492532|PMID:4774535 61942 Pde3a phosphodiesterase 3A gene DOID:10283 prostate cancer ISO RGD:734436 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 61942 Pde3a phosphodiesterase 3A gene DOID:5844 myocardial infarction ISO RGD:734436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 61942 Pde3a phosphodiesterase 3A gene DOID:630 genetic disease ISO RGD:734436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25961942|PMID:28492532|PMID:4774535 61942 Pde3a phosphodiesterase 3A gene DOID:6432 pulmonary hypertension IEP D RGD:1582528|PMID:12466227 20080918 RGD mRNA:increased expression:pulmonary artery 61942 Pde3a phosphodiesterase 3A gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2312523|PMID:12834273 20180517 RGD 61942 Pde3a phosphodiesterase 3A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2300416|PMID:12793980 20080918 RGD mRNA, protein:increased expression:mesenteric artery 61942 Pde3a phosphodiesterase 3A gene DOID:9007096 Stroke ISO RGD:734436 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 61942 Pde3a phosphodiesterase 3A gene DOID:9970 obesity IEP D RGD:2300415|PMID:9648839 20080918 RGD mRNA:decreased expression:heart 61943 Pde3b phosphodiesterase 3B gene DOID:1059 intellectual disability ISO RGD:732966 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61943 Pde3b phosphodiesterase 3B gene DOID:11612 polycystic ovary syndrome ISO RGD:732966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 61943 Pde3b phosphodiesterase 3B gene DOID:630 genetic disease ISO RGD:732966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61944 Chka choline kinase alpha gene DOID:0050912 colon adenoma ISO RGD:1348034 D RGD:10401945|PMID:10363580 20151013 RGD protein:increased expression:colonic mucosa (human) 61944 Chka choline kinase alpha gene DOID:0080016 spina bifida ISO RGD:1604072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 61944 Chka choline kinase alpha gene DOID:1059 intellectual disability ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35202461 61944 Chka choline kinase alpha gene DOID:10907 microcephaly ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:35202461 61944 Chka choline kinase alpha gene DOID:1826 epilepsy ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35202461 61944 Chka choline kinase alpha gene DOID:219 colon cancer IEP D RGD:10401869|PMID:10622531 20151009 RGD mRNA, protein:increased expression:colon (rat) 61944 Chka choline kinase alpha gene DOID:224 transient cerebral ischemia IEP D RGD:10401831|PMID:16300643 20151008 RGD mRNA:increased expression:cerebral cortex (rat) 61944 Chka choline kinase alpha gene DOID:630 genetic disease ISO RGD:1604072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61944 Chka choline kinase alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 61944 Chka choline kinase alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 61945 Per2 period circadian regulator 2 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:737181 D RGD:1600411|PMID:11232563 20070308 RGD familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G 61945 Per2 period circadian regulator 2 gene DOID:0060001 withdrawal disorder ISO RGD:737181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20434889|PMID:20738730 61945 Per2 period circadian regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 61945 Per2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:7240710 20130221 OMIM 61945 Per2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 PMID:11232563|PMID:25741868 61945 Per2 period circadian regulator 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 61945 Per2 period circadian regulator 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 61945 Per2 period circadian regulator 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 61945 Per2 period circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:737181 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61945 Per2 period circadian regulator 2 gene DOID:535 sleep disorder ISO RGD:737181 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Sleep disturbance 61945 Per2 period circadian regulator 2 gene DOID:630 genetic disease ISO RGD:737181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61945 Per2 period circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:737181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 61945 Per2 period circadian regulator 2 gene DOID:9000499 Alcoholic Intoxication ISO RGD:737181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15608650 61945 Per2 period circadian regulator 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 61946 Pou3f2 POU class 3 homeobox 2 gene DOID:3312 bipolar disorder ISO RGD:1351786 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 61946 Pou3f2 POU class 3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1351786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732459 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:7240710 20130221 OMIM 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:1783396|PMID:19671658|PMID:19930154|PMID:23076972|PMID:23606368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29287890|PMID:30176854|PMID:31690835|PMID:31786483|PMID:35802133|PMID:36633841|PMID:6662621|PMID:7581392|PMID:7839145|PMID:9298820 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:12849 autistic disorder ISO RGD:732459 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:3070 high grade glioma ISO RGD:732459 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:630 genetic disease ISO RGD:732459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:9008681 Deafness ISO RGD:732459 D RGD:1599155|PMID:7839145 20070117 RGD 61947 Pou3f4 POU class 3 homeobox 4 gene DOID:9008681 Deafness ISO RGD:732459 D RGD:1599156|PMID:9298820 20070117 RGD 61948 Tmod2 tropomodulin 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351754 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 61948 Tmod2 tropomodulin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351754 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61948 Tmod2 tropomodulin 2 gene DOID:607 paraplegia ISO RGD:1351754 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 61948 Tmod2 tropomodulin 2 gene DOID:630 genetic disease ISO RGD:1351754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61948 Tmod2 tropomodulin 2 gene DOID:9256 colorectal cancer ISO RGD:1351754 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 61949 Pla2g1b phospholipase A2 group IB gene DOID:630 genetic disease ISO RGD:735909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61949 Pla2g1b phospholipase A2 group IB gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:62242 D RGD:1302550|PMID:12376327 19990101 RGD 61950 Csrp2 cysteine and glycine-rich protein 2 gene DOID:630 genetic disease ISO RGD:1352848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61951 Lgals7 galectin 7 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350412 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 61951 Lgals7 galectin 7 gene DOID:1749 squamous cell carcinoma ISO RGD:1350412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 61951 Lgals7 galectin 7 gene DOID:305 carcinoma ISO RGD:1350412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61951 Lgals7 galectin 7 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61951 Lgals7 galectin 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61951 Lgals7 galectin 7 gene DOID:9007364 Mouth Neoplasms ISO RGD:1350412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 61951 Lgals7 galectin 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350412 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733097 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0060178 familial hemiplegic migraine ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:733097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:10327 anthracosis ISO RGD:733097 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:733097 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:630 genetic disease ISO RGD:733097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61952 Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733097 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060041 autism spectrum disorder ISS RGD:62246 D RGD:13592920 20190509 MouseDO 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732793 D RGD:7775026|PMID:22886747 20131230 RGD 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732793 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:732793 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:12849 autistic disorder ISO RGD:732793 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:5199 ureteral obstruction IEP D RGD:8693572|PMID:15629889 20150317 RGD protein:increased activity:kidney: 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:5419 schizophrenia ISO RGD:732793 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:20691406 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:5419 schizophrenia ISO RGD:732793 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:576 proteinuria ISO RGD:732793 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:630 genetic disease ISO RGD:732793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9000127 Knobloch Syndrome Type II ISO RGD:732793 D RGD:7240710 20220810 OMIM 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9002033 Knobloch Syndrome ISO RGD:732793 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:14695535|PMID:33693784|PMID:9677068 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:9835041|PMID:20071462 20150317 RGD 61953 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732793 D RGD:7775026|PMID:22886747 20131230 RGD 61954 Gal galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:7240710 20170315 OMIM 61954 Gal galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 PMID:17576681|PMID:25691535|PMID:25741868|PMID:28492532|PMID:9536098 61954 Gal galanin and GMAP prepropeptide gene DOID:1059 intellectual disability ISO RGD:737194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61954 Gal galanin and GMAP prepropeptide gene DOID:10763 hypertension IEP D RGD:1624333|PMID:15275958 20070509 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus 61954 Gal galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:737194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 61954 Gal galanin and GMAP prepropeptide gene DOID:1188 mononeuropathy IEP D RGD:1624339|PMID:17383023 20070509 RGD 61954 Gal galanin and GMAP prepropeptide gene DOID:1470 major depressive disorder ISO RGD:737194 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 61954 Gal galanin and GMAP prepropeptide gene DOID:1826 epilepsy ISO RGD:737194 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61954 Gal galanin and GMAP prepropeptide gene DOID:2316 brain ischemia IEP D RGD:1624341|PMID:16458372 20070509 RGD 61954 Gal galanin and GMAP prepropeptide gene DOID:630 genetic disease ISO RGD:737194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61954 Gal galanin and GMAP prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:737194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 61954 Gal galanin and GMAP prepropeptide gene DOID:9002554 Tachycardia ISO RGD:737194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 61954 Gal galanin and GMAP prepropeptide gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 61954 Gal galanin and GMAP prepropeptide gene DOID:9005372 Inflammation ISO RGD:737194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17999197 61954 Gal galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313740|PMID:11489087 20091013 RGD protein:decreased expression:pancreatic islet 61954 Gal galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62247 D RGD:2313742|PMID:7505518 20091013 RGD protein:decreased expression:pancreatic islet 61954 Gal galanin and GMAP prepropeptide gene DOID:9005968 Neuralgia ISO RGD:737194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 61954 Gal galanin and GMAP prepropeptide gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 61954 Gal galanin and GMAP prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737194 D RGD:2313738|PMID:15735230 20091013 RGD protein:increased expression:blood 61954 Gal galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus IEP D RGD:1624331|PMID:16487586 20070509 RGD mRNA, protein:increased expression:celiac ganglion 61954 Gal galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737194 D RGD:2313736|PMID:16060906 20091013 RGD protein:increased expression:plasma 61954 Gal galanin and GMAP prepropeptide gene DOID:9970 obesity ISO RGD:737194 D RGD:1624334|PMID:11220530 20070509 RGD protein:increased expression:plasma 61954 Gal galanin and GMAP prepropeptide gene DOID:9970 obesity no_association ISO RGD:737194 D RGD:1625748|PMID:15930442 20070628 RGD 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked PMID:17701900|PMID:20021999|PMID:20301731|PMID:20301734|PMID:24033266|PMID:24528855|PMID:24961627|PMID:25182139|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28967191|PMID:29986705|PMID:30177296|PMID:31906484|PMID:32528171|PMID:32781272|PMID:33532242|PMID:8702702|PMID:8968763 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:7240710 20130221 OMIM 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision PMID:1664177|PMID:17701896|PMID:17701900|PMID:19161981|PMID:20301731|PMID:22246954|PMID:24033266|PMID:24528855|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:31906484|PMID:32781272|PMID:6243137|PMID:7593598|PMID:8253776|PMID:8498830 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:28492532 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736625 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:7240710 20130221 OMIM 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy PMID:17701900|PMID:20301731|PMID:24033266|PMID:24285972|PMID:25182139|PMID:25491489|PMID:25741868|PMID:28492532|PMID:32781272 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:7240710 20130221 OMIM 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity PMID:1664177|PMID:171280|PMID:17701900|PMID:19161981|PMID:20301731|PMID:24033266|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:6243137|PMID:7593598|PMID:8253776 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:11061884|PMID:25785835 20170621 RGD DNA:missense mutation:exon:p.G306E (c.917G>A) (human) 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:7240710 20130221 OMIM 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 PMID:10503584|PMID:15240907|PMID:17701900|PMID:20021999|PMID:20301731|PMID:24033266|PMID:24528855|PMID:25182139|PMID:25741868|PMID:28492532|PMID:8968763 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736625 D RGD:11056008|PMID:25491489 20170620 RGD DNA:missense mutation:exon:p.S16P (human) 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:12849 autistic disorder ISO RGD:736625 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:13189 gout ISO RGD:736625 D RGD:9068941 20220825 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:736625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1664177|PMID:19161981|PMID:24033266|PMID:25741868|PMID:26089585|PMID:26467025|PMID:28492532|PMID:6243137|PMID:8253776 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24961627|PMID:25741868|PMID:28492532|PMID:28967191|PMID:32781272 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:736625 D RGD:5134990|PMID:7593598 20110707 RGD associated with Gout; DNA:missense mutations:cds:multiple (human) 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:736625 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004657 Weight Gain ISO RGD:736625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 61955 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 61956 Nt5e 5' nucleotidase, ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:7240710 20130221 OMIM 61956 Nt5e 5' nucleotidase, ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome PMID:21288095|PMID:24887587|PMID:25741868|PMID:28492532 61956 Nt5e 5' nucleotidase, ecto gene DOID:1824 status epilepticus IEP D RGD:5134344|PMID:16274951 20110629 RGD protein:increased activity:cerebral cortex, synaptosome (rat) 61956 Nt5e 5' nucleotidase, ecto gene DOID:630 genetic disease ISO RGD:734028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61956 Nt5e 5' nucleotidase, ecto gene DOID:769 neuroblastoma ISO RGD:734028 D RGD:11554173 20221004 CTD CTD Direct Evidence: therapeutic PMID:34773529 61956 Nt5e 5' nucleotidase, ecto gene DOID:9000217 Stomach Neoplasms ISO RGD:734028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 61956 Nt5e 5' nucleotidase, ecto gene DOID:9000918 Disease Progression ISO RGD:734028 D RGD:11554173 20221004 CTD CTD Direct Evidence: therapeutic PMID:34773529 61956 Nt5e 5' nucleotidase, ecto gene DOID:9000998 Brain Injuries IEP D RGD:5134348|PMID:21337375 20110630 RGD protein:altered expression:cerebral cortex (rat) 61956 Nt5e 5' nucleotidase, ecto gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18263696 61956 Nt5e 5' nucleotidase, ecto gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5134343|PMID:19723569 20110629 RGD protein:increased expression:cerebral cortex, synaptosome (rat) 61956 Nt5e 5' nucleotidase, ecto gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734028 D RGD:11554173 20221004 CTD CTD Direct Evidence: therapeutic PMID:34773529 61957 Isl1 ISL LIM homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:736062 D RGD:243049245|PMID:32771629 20230405 RGD DNA:mutation:cds:c.481G>T (human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:736062 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 61957 Isl1 ISL LIM homeobox 1 gene DOID:11054 urinary bladder cancer ISO RGD:736062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 61957 Isl1 ISL LIM homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736062 D RGD:243049244|PMID:30536204 20230405 RGD DNA:mutation:cds:c.631A>T(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:1459 hypothyroidism susceptibility ISO RGD:62250 D RGD:11353031|PMID:26296153 20230404 RGD 61957 Isl1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect ISO RGD:736062 D RGD:243048461|PMID:23572340 20230404 RGD DNA:polymorphisms: :rs3762977,IVS1+17C(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:736062 D RGD:243049248|PMID:24634231 20230406 RGD DNA:SNP: :rs1017(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:736062 D RGD:243048468|PMID:30390123 20230404 RGD DNA:mutation:cds: c.409G>T (p.E137X)(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:736062 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of 61957 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease no_association ISO RGD:736062 D RGD:243049243|PMID:23229290 20230405 RGD DNA:SNPs:3'UTR:(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736062 D RGD:243049242|PMID:20520780 20230405 RGD DNA:SNPs, haplotype:intron, 3'UTR:(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:736062 D RGD:243049248|PMID:24634231 20230406 RGD DNA:SNP: :rs1017(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ISO RGD:62250 D RGD:243048464|PMID:22727192 20230404 RGD 61957 Isl1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:736062 D RGD:243048463|PMID:29482621 20230404 RGD 61957 Isl1 ISL LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:736062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61957 Isl1 ISL LIM homeobox 1 gene DOID:6406 double outlet right ventricle ISO RGD:736062 D RGD:243048467|PMID:31484864 20230404 RGD DNA:mutation:cds:c.225C>G(human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:769 neuroblastoma ISO RGD:736062 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 61957 Isl1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment IEP D RGD:243049251|PMID:32277945 20230410 RGD 61957 Isl1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:62250 D RGD:243049251|PMID:32277945 20230410 RGD 61957 Isl1 ISL LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736062 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61957 Isl1 ISL LIM homeobox 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 61957 Isl1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:243065124|PMID:30341898 20230411 RGD mRNA,protein:decreased expression:pancreas: 61957 Isl1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736062 D RGD:2311117|PMID:11978668 20090625 RGD associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) 61957 Isl1 ISL LIM homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736062 D RGD:2311116|PMID:15161765 20090625 RGD DNA:SNPs: :multiple (human) 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1346165 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:10763 hypertension disease_progression IAGP D RGD:1643008|PMID:17938382 20191210 RGD associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat) 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:1826 epilepsy ISO RGD:1346165 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:305 carcinoma ISO RGD:1346165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:630 genetic disease ISO RGD:1346165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1346165 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1346165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9002514 Neointima ISO RGD:1346165 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9003936 Cardiomegaly IDA D RGD:1357201|PMID:11549339 19990101 RGD 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62251 D RGD:1580913|PMID:16403835 19990101 RGD 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1346165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 61958 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:1346165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 61959 Txnrd1 thioredoxin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732119 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 61959 Txnrd1 thioredoxin reductase 1 gene DOID:1826 epilepsy ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 61959 Txnrd1 thioredoxin reductase 1 gene DOID:2773 contact dermatitis ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 61959 Txnrd1 thioredoxin reductase 1 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:732119 D RGD:5685032|PMID:18996185 20120109 RGD DNA:SNPs:intron:rs6539137, rs4630362 (human) 61959 Txnrd1 thioredoxin reductase 1 gene DOID:5844 myocardial infarction IEP D RGD:5134341|PMID:18515646 20110629 RGD mRNA:decreased expression:heart left ventricle (rat) 61959 Txnrd1 thioredoxin reductase 1 gene DOID:6000 congestive heart failure ISO RGD:732119 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 61959 Txnrd1 thioredoxin reductase 1 gene DOID:630 genetic disease ISO RGD:732119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61959 Txnrd1 thioredoxin reductase 1 gene DOID:657 adenoma ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 61959 Txnrd1 thioredoxin reductase 1 gene DOID:8398 osteoarthritis ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:5133729|PMID:19833109 20120109 RGD mRNA, protein:increased expression:neuron 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9003566 Mesothelioma ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17316382 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16565519 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:5685028|PMID:19409971 20120109 RGD mRNA:decreased expression:spinal cord 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:5685030|PMID:19128823 20090324 RGD mRNA:decreased expression:cerebral cortex 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5133714|PMID:20571744 20110627 RGD mRNA:altered expression:myocardium (rat) 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61959 Txnrd1 thioredoxin reductase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:25741868|PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606823 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606823 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1606823 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1606823 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1606823 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61960 Txnrd2 thioredoxin reductase 2 gene DOID:1067 open-angle glaucoma ISO RGD:1606823 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 61960 Txnrd2 thioredoxin reductase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 61960 Txnrd2 thioredoxin reductase 2 gene DOID:11372 megacolon ISO RGD:1606823 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 61960 Txnrd2 thioredoxin reductase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 61960 Txnrd2 thioredoxin reductase 2 gene DOID:12849 autistic disorder ISO RGD:1606823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61960 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 61960 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 61960 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098 61960 Txnrd2 thioredoxin reductase 2 gene DOID:1826 epilepsy ISO RGD:1606823 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 61960 Txnrd2 thioredoxin reductase 2 gene DOID:2213 hemorrhagic disease ISO RGD:1606823 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 61960 Txnrd2 thioredoxin reductase 2 gene DOID:3070 high grade glioma ISO RGD:1606823 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 61960 Txnrd2 thioredoxin reductase 2 gene DOID:5419 schizophrenia ISO RGD:1606823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61960 Txnrd2 thioredoxin reductase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606823 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 61960 Txnrd2 thioredoxin reductase 2 gene DOID:630 genetic disease ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1606823 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5685030|PMID:19128823 20090324 RGD mRNA:decreased expression:cerebral cortex 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606823 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5133714|PMID:20571744 20110627 RGD mRNA:altered expression:myocardium (rat) 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9007661 Dwarfism ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:7240710 20190315 OMIM 61960 Txnrd2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221 619613 Bp77 Blood pressure QTL 77 qtl DOID:10763 hypertension IDA D RGD:70855|PMID:11509479 19990101 RGD 619614 Bp78 Blood pressure QTL 78 qtl DOID:10763 hypertension IDA D RGD:70855|PMID:11509479 19990101 RGD 619615 Bp80 Blood pressure QTL 80 qtl DOID:10763 hypertension IDA D RGD:70857|PMID:9299556 19990101 RGD 619616 Bp79 Blood pressure QTL 79 qtl DOID:10763 hypertension IDA D RGD:61035|PMID:9780220 19990101 RGD 619617 Bp283 Blood pressure QTL 283 qtl DOID:10763 hypertension IDA D RGD:70856|PMID:11053483 19990101 RGD 619618 Rf3 Renal disease susceptibility QTL 3 qtl DOID:783 end stage renal disease IDA D RGD:70856|PMID:11053483 19990101 RGD 619619 Rf4 Renal disease susceptibility QTL 4 qtl DOID:783 end stage renal disease IDA D RGD:70856|PMID:11053483 19990101 RGD 61962 Cryba4 crystallin, beta A4 gene DOID:0110270 cataract 17 multiple types ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21972112|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 61962 Cryba4 crystallin, beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:7240710 20130911 OMIM 61962 Cryba4 crystallin, beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types PMID:15452067|PMID:16199547|PMID:16960806|PMID:20577656|PMID:24968223|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28450710|PMID:28492532|PMID:31555371 61962 Cryba4 crystallin, beta A4 gene DOID:5419 schizophrenia ISO RGD:733543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 61962 Cryba4 crystallin, beta A4 gene DOID:630 genetic disease ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61962 Cryba4 crystallin, beta A4 gene DOID:83 cataract IEP D RGD:2303653|PMID:10726880 20090220 RGD protein:decreased expression:lens 61962 Cryba4 crystallin, beta A4 gene DOID:83 cataract ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538|PMID:28492532 61962 Cryba4 crystallin, beta A4 gene DOID:9001495 Cataract, Lamellar 2 ISO RGD:733543 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Cataract, lamellar 2 PMID:26694549|PMID:28492532 61962 Cryba4 crystallin, beta A4 gene DOID:9002474 Isolated Microphthalmia with Cataract 4 ISO RGD:733543 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 PMID:26694549|PMID:28492532 619620 Rf5 Renal disease susceptibility QTL 5 qtl DOID:783 end stage renal disease IDA D RGD:70856|PMID:11053483 19990101 RGD 61963 Fhl2 four and a half LIM domains 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1350947 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 61963 Fhl2 four and a half LIM domains 2 gene DOID:0050700 cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17416352|PMID:24033266|PMID:25741868|PMID:26627873|PMID:28492532|PMID:31333075|PMID:31568572 61963 Fhl2 four and a half LIM domains 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350947 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 61963 Fhl2 four and a half LIM domains 2 gene DOID:12642 hiatus hernia ISO RGD:1350947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hiatus hernia PMID:25741868 61963 Fhl2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 61963 Fhl2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 61963 Fhl2 four and a half LIM domains 2 gene DOID:630 genetic disease ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61963 Fhl2 four and a half LIM domains 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1350947 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 61963 Fhl2 four and a half LIM domains 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61963 Fhl2 four and a half LIM domains 2 gene DOID:9003936 Cardiomegaly ISO RGD:1350947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25358972 61963 Fhl2 four and a half LIM domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1350947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682292 61963 Fhl2 four and a half LIM domains 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1350947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1349768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:5688729|PMID:18423940 20120302 RGD DNA:SNP:cds: rs7483 (human) 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:12849 autistic disorder ISO RGD:1349768 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:1485 cystic fibrosis ISO RGD:1349768 D RGD:9068941 20220825 RGD PMID:15115915|REF_RGD_ID:5135040 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10680782|REF_RGD_ID:5490267 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:2596 larynx cancer ISO RGD:1349768 D RGD:9068941 20220825 RGD PMID:10067818|REF_RGD_ID:5135043 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20220825 RGD PMID:17550934|REF_RGD_ID:5135038 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20220825 RGD DNA:polymorphism PMID:11470996|REF_RGD_ID:5135039 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:3070 high grade glioma ISO RGD:1349768 D RGD:9068941 20220825 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:3347 osteosarcoma ISO RGD:1349768 D RGD:9068941 20220825 RGD PMID:20577141|REF_RGD_ID:5135042 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:3565 meningioma ISO RGD:1349768 D RGD:9068941 20220825 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:4448 macular degeneration ISO RGD:1349768 D RGD:12792247|PMID:22410570 20170314 RGD mRNA, protein:decreased expression:pigmented layer of retina (human) 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:630 genetic disease ISO RGD:1349768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:9001341 Chloracne ISO RGD:1349768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14968442 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349768 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25743375 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 61964 Gstm5 glutathione S-transferase, mu 5 gene DOID:9675 pulmonary emphysema ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:19723343|REF_RGD_ID:5135041 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:10763 hypertension ISO RGD:1343639 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:28899902 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:1206 Rett syndrome ISO RGD:1343639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26214522 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:1343639 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:28899902 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:630 genetic disease ISO RGD:1343639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:707 B-cell lymphoma ISO RGD:1343639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1343639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26739621 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9005372 Inflammation ISO RGD:1343639 D RGD:11554173 20180116 CTD CTD Direct Evidence: therapeutic PMID:28899902 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1343639 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:10744717 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1343639 D RGD:1625240|PMID:11833006 20070530 RGD DNA:insertion:3'utr:1484insG 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1343639 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:11833006 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:1343639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343639 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1343639 D RGD:7240710 20230505 OMIM 61965 Ptpn1 protein tyrosine phosphatase, non-receptor type 1 gene DOID:9970 obesity ISO RGD:1343639 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:10744717|PMID:20075852 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:22539854|PMID:22750526|PMID:24407264|PMID:25741868|PMID:27066572|PMID:28492532 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1344590 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISS RGD:62259 D RGD:13592920 20210902 MouseDO 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0080422 Dravet syndrome ISO RGD:1344590 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344590 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:7240710 20190605 OMIM 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8 | ClinVar Annotator: match by term: Febrile seizures, familial, 8 PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:18094250|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23935098|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:31175295|PMID:31216405|PMID:33391346|PMID:9536098|PMID:9894880 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:7240710 20190515 OMIM 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 74 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29778030|PMID:31216405|PMID:31785789|PMID:32371413 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:10485 esophageal atresia ISO RGD:1344590 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:1059 intellectual disability ISO RGD:1344590 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23708187|PMID:25741868|PMID:27864268|PMID:28492532 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:13413 hepatic encephalopathy IEP D RGD:6480237|PMID:15929193 20120319 RGD mRNA:increased expression:brain 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:13413 hepatic encephalopathy ISO RGD:1344590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:1574 alcohol use disorder ISO RGD:1344590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:1825 childhood absence epilepsy ISO RGD:1344590 D RGD:1358631|PMID:12117362 19990101 RGD DNA:snp:intron:IVS6+2T>G (human) 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Seizures PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344590 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:17576681|PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611|PMID:9536098 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12477709|PMID:15470132|PMID:16924025|PMID:17947380|PMID:20485450|PMID:20551311|PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:24480790|PMID:24798517|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27066572|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29950725|PMID:30660939|PMID:31216405|PMID:32086284 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:670 amphetamine abuse ISO RGD:1344590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15772696 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:9002914 Familial Sudden Death ISO RGD:1344590 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:9005485 Generalized Epilepsy with Febrile Seizures Plus, Type 3 ISO RGD:1344590 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 3 PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1344590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:9007956 Febrile Seizures ISO RGD:1344590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 61966 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 gene DOID:9009061 Childhood Absence Epilepsy 2 ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-Related Disorder PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:12477709|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16199547|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:17947380|PMID:18094250|PMID:18414213|PMID:18566737|PMID:19261880|PMID:20485450|PMID:20551311|PMID:21714819|PMID:22190369|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23720301|PMID:23935098|PMID:24407264|PMID:24480790|PMID:24798517|PMID:24811917|PMID:24848745|PMID:24874541|PMID:25640679|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26005849|PMID:26467025|PMID:26633542|PMID:27066572|PMID:27334371|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27762395|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29778030|PMID:29950725|PMID:30557390|PMID:30660939|PMID:31004928|PMID:31175295|PMID:31216405|PMID:31471553|PMID:31785789|PMID:32086284|PMID:32371413|PMID:33004838|PMID:33391346|PMID:9536098 61967 Mcm6 minichromosome maintenance complex component 6 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1352854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 61967 Mcm6 minichromosome maintenance complex component 6 gene DOID:630 genetic disease ISO RGD:1352854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61967 Mcm6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:7240710 20130221 OMIM 61967 Mcm6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: ADULT LACTASE DEFICIENCY | ClinVar Annotator: match by term: Lactose intolerance, adult type PMID:25741868 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17399643|PMID:19931173 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:7240710 20130221 OMIM 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15761194|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16533896|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17581963|PMID:17582433|PMID:17619200|PMID:17640933|PMID:17655675|PMID:18313615|PMID:18452873|PMID:18554214|PMID:19041665|PMID:19111761|PMID:19201608|PMID:19570891|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21493816|PMID:21875779|PMID:22002906|PMID:22166941|PMID:22186697|PMID:22286118|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:22982078|PMID:23516313|PMID:23564459|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23861362|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24047492|PMID:24211314|PMID:24383070|PMID:24388587|PMID:24395924|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25284084|PMID:25351510|PMID:25410959|PMID:25415519|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26230511|PMID:26304528|PMID:26322597|PMID:26467025|PMID:26927354|PMID:26937109|PMID:27145478|PMID:27456059|PMID:27789106|PMID:27920829|PMID:28003625|PMID:28024840|PMID:28336205|PMID:28341588|PMID:28491792|PMID:28492532|PMID:28501311|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28711067|PMID:28798025|PMID:29017447|PMID:29247119|PMID:29606556|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30516834|PMID:30533530|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:32969603|PMID:33057326|PMID:34127479|PMID:34426522|PMID:34516623|PMID:8078584 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0050451 Brugada syndrome ISO RGD:1352992 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Brugada syndrome 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:1352992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0050793 short QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:15761194|PMID:17640933|PMID:22308236|PMID:22371365|PMID:22581653|PMID:25741868|PMID:28492532|PMID:8078584 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1352992 D RGD:7247428|PMID:23543060 20130711 RGD mRNA:increased expression:heart atrium 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15922306|PMID:17581963|PMID:19041665|PMID:19111761|PMID:22581653|PMID:23631430|PMID:25223803|PMID:25410959|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28711067|PMID:29247119|PMID:31521807|PMID:34426522|PMID:34516623 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:1029 familial periodic paralysis ISO RGD:1352992 D RGD:1580802|PMID:12045162 19990101 RGD DNA:missense mutation:192T>A (human) 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:1029 familial periodic paralysis ISO RGD:1352992 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Familial periodic paralysis PMID:17324964|PMID:19201608|PMID:22581653 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352992 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:2843 long QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17582433|PMID:17655675|PMID:18452873|PMID:18554214|PMID:18690034|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21640645|PMID:21875779|PMID:22002906|PMID:22186697|PMID:22286118|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24211314|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25284084|PMID:25415519|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:26927354|PMID:26937109|PMID:28003625|PMID:28024840|PMID:28492532|PMID:28501311|PMID:28600387|PMID:30298493|PMID:30516834|PMID:30533530|PMID:31068157|PMID:31737537|PMID:33057326|PMID:34127479 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:37 skin disease ISO RGD:1352992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1352992 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:5844 myocardial infarction treatment IDA D RGD:7247426|PMID:23647964 20130711 RGD 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:630 genetic disease ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371347|PMID:12163457|PMID:12796536|PMID:12909315|PMID:15852530|PMID:16217063|PMID:17074642|PMID:17119796|PMID:17221872|PMID:17399642|PMID:17568571|PMID:18554214|PMID:20647529|PMID:22581653|PMID:22589293|PMID:23631430|PMID:24211314|PMID:25415519|PMID:25741868|PMID:26230511|PMID:26467025|PMID:26937109|PMID:28024840|PMID:28492532|PMID:28501311 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:16217063|PMID:16818210|PMID:17341397|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1352992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17399643|PMID:17546530 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17211524|PMID:17324964|PMID:17341397|PMID:22581653|PMID:22589293|PMID:24383070|PMID:25741868|PMID:25847018|PMID:27145478|PMID:28492532|PMID:31068157|PMID:31483760|PMID:31567646|PMID:31890843|PMID:32299589|PMID:32499698 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:7240710 20130221 OMIM 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15761194|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17341397|PMID:17581963|PMID:17640933|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:21875779|PMID:22002906|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26304528|PMID:26467025|PMID:27456059|PMID:27920829|PMID:28003625|PMID:28336205|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28711067|PMID:28798025|PMID:29247119|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:34426522|PMID:34516623|PMID:8078584 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:7240710 20140903 OMIM 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17581963|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28711067|PMID:29247119|PMID:29874177|PMID:30298493|PMID:30847666|PMID:31068157|PMID:31521807|PMID:31534214|PMID:32145446|PMID:34426522|PMID:34516623 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1352992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17546530 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15851159|PMID:15911703|PMID:16217063|PMID:16818210|PMID:17341397|PMID:19843922|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:1352992 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28341588|PMID:28492532|PMID:29874177 61968 Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 61969 Hpse heparanase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:736250 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 61969 Hpse heparanase gene DOID:1909 melanoma ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 61969 Hpse heparanase gene DOID:2527 nephrosis ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16899518 61969 Hpse heparanase gene DOID:2986 IgA glomerulonephritis ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 61969 Hpse heparanase gene DOID:630 genetic disease ISO RGD:736250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61969 Hpse heparanase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 61969 Hpse heparanase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:18458672 61969 Hpse heparanase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 61969 Hpse heparanase gene DOID:9008939 Breast Neoplasms ISO RGD:736250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391819 61970 Ptp4a1 protein tyrosine phosphatase 4A1 gene DOID:630 genetic disease ISO RGD:1352872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619705 Arhgef11 Rho guanine nucleotide exchange factor 11 gene DOID:1540 parathyroid carcinoma ISO RGD:734056 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619705 Arhgef11 Rho guanine nucleotide exchange factor 11 gene DOID:630 genetic disease ISO RGD:734056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619705 Arhgef11 Rho guanine nucleotide exchange factor 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734056 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619706 Ptprk protein tyrosine phosphatase, receptor type, K gene DOID:1909 melanoma ISO RGD:1354114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842|PMID:22842228 619706 Ptprk protein tyrosine phosphatase, receptor type, K gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354114 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 619706 Ptprk protein tyrosine phosphatase, receptor type, K gene DOID:630 genetic disease ISO RGD:1354114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619706 Ptprk protein tyrosine phosphatase, receptor type, K gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 619707 Ptgdr prostaglandin D2 receptor gene DOID:0080600 COVID-19 ISO RGD:1349248 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619707 Ptgdr prostaglandin D2 receptor gene DOID:2841 asthma ISO RGD:1349248 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 619707 Ptgdr prostaglandin D2 receptor gene DOID:2841 asthma susceptibility ISO RGD:1349248 D RGD:7240710 20190502 OMIM 619707 Ptgdr prostaglandin D2 receptor gene DOID:630 genetic disease ISO RGD:1349248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732377 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:14330 Parkinson's disease IEP D RGD:13208826|PMID:23888906 20170817 RGD 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:5419 schizophrenia ISO RGD:732377 D RGD:12790585|PMID:16510495 20170216 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:5419 schizophrenia ISO RGD:732377 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:630 genetic disease ISO RGD:732377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732377 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 619708 Fez1 fasciculation and elongation protein zeta 1 gene DOID:9007661 Dwarfism ISO RGD:732377 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 619709 Fez2 fasciculation and elongation protein zeta 2 gene DOID:630 genetic disease ISO RGD:735511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619709 Fez2 fasciculation and elongation protein zeta 2 gene DOID:9004657 Weight Gain ISO RGD:735511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 619709 Fez2 fasciculation and elongation protein zeta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:20560207|PMID:21311022|PMID:22203740|PMID:24574546|PMID:25417227|PMID:25741868|PMID:28492532|PMID:30764634|PMID:31521807 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:1581701|PMID:11693772 20061031 RGD 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349904 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:28492532 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:7240710 20130425 OMIM 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 13 PMID:20560207|PMID:24574546|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349904 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349904 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:13884 sick sinus syndrome ISO RGD:1349904 D RGD:11554173 20180410 CTD CTD Direct Evidence: therapeutic PMID:26831068 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:17967416|PMID:20560207|PMID:22203740|PMID:22308486|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29467578|PMID:31388123 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:17967416|PMID:20560207|PMID:21311022|PMID:22203740|PMID:22308486|PMID:22315453|PMID:22645387|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25347571|PMID:25417227|PMID:25741868|PMID:26350513|PMID:27099398|PMID:27707468|PMID:28032242|PMID:28492532|PMID:28986455|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30086531|PMID:30764634|PMID:30847666|PMID:30975432|PMID:31388123|PMID:31521807|PMID:34426522|PMID:9536098 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:5419 schizophrenia ISO RGD:1349904 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:630 genetic disease ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:657 adenoma ISO RGD:1349904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:7240710 20140911 OMIM 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30847666|PMID:34426522 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9003163 Heart Block ISO RGD:1349904 D RGD:11554173 20180410 CTD CTD Direct Evidence: therapeutic PMID:26831068 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349904 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9004228 Familial Hyperaldosteronism ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism PMID:25741868|PMID:28492532 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349904 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868|PMID:28492532 61971 Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 gene DOID:9007661 Dwarfism ISO RGD:1349904 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 619710 Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1343925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 619710 Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0050476 Barth syndrome ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11326334|PMID:12210795|PMID:17465020 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:7240710 20130221 OMIM 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0050800 creatine transporter deficiency ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11326334|PMID:11748843|PMID:11898126|PMID:11968085|PMID:12536364|PMID:12544242|PMID:12889669|PMID:15154114|PMID:15351775|PMID:15689435|PMID:15690373|PMID:15857409|PMID:16080119|PMID:16086185|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16738945|PMID:17088400|PMID:17101918|PMID:17172942|PMID:17465020|PMID:17553121|PMID:17576681|PMID:18047645|PMID:18414213|PMID:19188083|PMID:19396829|PMID:19763152|PMID:19846429|PMID:20307669|PMID:20717164|PMID:20730588|PMID:21140503|PMID:21267006|PMID:21556832|PMID:21836662|PMID:21910234|PMID:22281021|PMID:22382802|PMID:22406018|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23408511|PMID:23409742|PMID:23644449|PMID:23660394|PMID:24190795|PMID:24365856|PMID:24962355|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25803912|PMID:25861866|PMID:26467025|PMID:26471271|PMID:26930212|PMID:27408820|PMID:28065824|PMID:28492532|PMID:29334594|PMID:29429461|PMID:30885608|PMID:32207963|PMID:32434645|PMID:32860008|PMID:33624935|PMID:34395220|PMID:9384614|PMID:9536098 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342978 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1342978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability ISO RGD:1342978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11326334|PMID:12536364|PMID:12544242|PMID:19188083|PMID:22281021|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30885608|PMID:32207963|PMID:33624935 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability susceptibility ISO RGD:1342978 D RGD:1600037|PMID:11898126 20070226 RGD DNA:point mutation: ; 1141G>C 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:12849 autistic disorder ISO RGD:1342978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18461508 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:12849 autistic disorder ISO RGD:1342978 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:13628 favism ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:1824 status epilepticus IEP D RGD:11565113|PMID:20979657 20161121 RGD 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:1826 epilepsy ISO RGD:1342978 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:2729 dyskeratosis congenita ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:607 paraplegia ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:630 genetic disease ISO RGD:1342978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326334|PMID:12536364|PMID:12544242|PMID:15154114|PMID:16199547|PMID:16738945|PMID:17465020|PMID:18414213|PMID:20717164|PMID:21910234|PMID:22281021|PMID:25741868|PMID:25861866|PMID:26467025|PMID:28492532|PMID:34395220 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:9002720 Splenomegaly ISO RGD:1342978 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342978 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1342978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18350323 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1342978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11326334 619711 Slc6a8 solute carrier family 6 member 8 gene DOID:9008582 Developmental Disease ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1345543 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:30718709 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:7240710 20180808 OMIM 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:16319817|PMID:17070587|PMID:17765441|PMID:19753316|PMID:22959359|PMID:26349155|PMID:27511724|PMID:28418496|PMID:28511019|PMID:30718709|PMID:9020843|PMID:9419375 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:2222 factor X deficiency ISO RGD:1345543 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:5679 retinal disease IEP D RGD:1600004|PMID:10549637 20070222 RGD mRNA, protein:decreased expression:retina 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:6000 congestive heart failure IDA D RGD:1600002|PMID:12456492 20070222 RGD 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:630 genetic disease ISO RGD:1345543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:8498 hereditary night blindness ISO RGD:1345543 D RGD:11554173 20180809 CTD CTD Direct Evidence: marker/mechanism 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:8498 hereditary night blindness ISO RGD:1345543 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Oguchi disease PMID:25741868 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:8499 night blindness ISO RGD:1345543 D RGD:1600000|PMID:9020843 20070222 RGD DNA:deletions, missense mutation, frameshift mutation 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1600001|PMID:15939031 20070222 RGD protein:increased expression:retina 619712 Grk1 G protein-coupled receptor kinase 1 gene DOID:9005968 Neuralgia ISO RGD:1345543 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 619713 Cnr2 cannabinoid receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732246 D RGD:11554173 20210209 CTD CTD Direct Evidence: therapeutic PMID:30102254 619713 Cnr2 cannabinoid receptor 2 gene DOID:11446 sciatic neuropathy treatment IDA D RGD:2316195|PMID:19345493 20140106 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease IDA D RGD:2316196|PMID:19115380 20100128 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:1553231 D RGD:2316196|PMID:19115380 20100128 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:13250 diarrhea ISO RGD:732246 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 619713 Cnr2 cannabinoid receptor 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732246 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 619713 Cnr2 cannabinoid receptor 2 gene DOID:13580 cholestasis ISO RGD:732246 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 619713 Cnr2 cannabinoid receptor 2 gene DOID:1596 depressive disorder ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18286196 619713 Cnr2 cannabinoid receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 619713 Cnr2 cannabinoid receptor 2 gene DOID:1936 atherosclerosis ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15815632 619713 Cnr2 cannabinoid receptor 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:732246 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 619713 Cnr2 cannabinoid receptor 2 gene DOID:2914 immune system disease ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16924491 619713 Cnr2 cannabinoid receptor 2 gene DOID:418 systemic scleroderma ISO RGD:732246 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 619713 Cnr2 cannabinoid receptor 2 gene DOID:4195 hyperglycemia ISO RGD:732246 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:32365865 619713 Cnr2 cannabinoid receptor 2 gene DOID:4989 pancreatitis IEP D RGD:2316197|PMID:19070664 20100128 RGD protein:decreased expression:pancreas, acinar cell 619713 Cnr2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 619713 Cnr2 cannabinoid receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15765409 619713 Cnr2 cannabinoid receptor 2 gene DOID:630 genetic disease ISO RGD:732246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619713 Cnr2 cannabinoid receptor 2 gene DOID:848 arthritis IMP D RGD:2316223|PMID:18075852 20100201 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316199|PMID:18930143 20100128 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:9000641 Pain IMP D RGD:2316193|PMID:19409856 20100128 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:9000920 Anterior Cruciate Ligament Injuries ISO RGD:732246 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34537380 619713 Cnr2 cannabinoid receptor 2 gene DOID:9001981 Weight Loss ISO RGD:732246 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27611972|PMID:30102254 619713 Cnr2 cannabinoid receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572696|PMID:18664590 619713 Cnr2 cannabinoid receptor 2 gene DOID:9003805 Catalepsy ISO RGD:732246 D RGD:11554173 20201217 CTD CTD Direct Evidence: therapeutic PMID:31877572 619713 Cnr2 cannabinoid receptor 2 gene DOID:9006205 Animal Disease Models ISO RGD:732246 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 619713 Cnr2 cannabinoid receptor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 619713 Cnr2 cannabinoid receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732246 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:29805589 619713 Cnr2 cannabinoid receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2316224|PMID:17950273 20100201 RGD 619713 Cnr2 cannabinoid receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818634 619713 Cnr2 cannabinoid receptor 2 gene DOID:9009039 Hyperemia ISO RGD:732246 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 619713 Cnr2 cannabinoid receptor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732246 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15039279 619714 Rpa2 replication protein A2 gene DOID:630 genetic disease ISO RGD:1344829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619715 Sv2a synaptic vesicle glycoprotein 2a gene DOID:12377 spinal muscular atrophy ISO RGD:733212 D RGD:11535337|PMID:28173138 20211202 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) 619715 Sv2a synaptic vesicle glycoprotein 2a gene DOID:1540 parathyroid carcinoma ISO RGD:1604842 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619715 Sv2a synaptic vesicle glycoprotein 2a gene DOID:630 genetic disease ISO RGD:1604842 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619715 Sv2a synaptic vesicle glycoprotein 2a gene DOID:9007090 Experimental Seizures IMP D RGD:12792961|PMID:27265781 20170317 RGD DNA:mutation:cds:p.L174Q(rat) 619715 Sv2a synaptic vesicle glycoprotein 2a gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604842 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619716 Sv2b synaptic vesicle glycoprotein 2b gene DOID:10283 prostate cancer ISO RGD:1343420 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619716 Sv2b synaptic vesicle glycoprotein 2b gene DOID:12377 spinal muscular atrophy ISO RGD:1332062 D RGD:11535337|PMID:28173138 20211202 RGD protein:decreased expression:multiple (mouse) 619716 Sv2b synaptic vesicle glycoprotein 2b gene DOID:557 kidney disease ISO RGD:1343420 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16943307 619716 Sv2b synaptic vesicle glycoprotein 2b gene DOID:630 genetic disease ISO RGD:1343420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619717 Tuba1a tubulin, alpha 1A gene DOID:0050453 lissencephaly ISO RGD:1607082 D RGD:12859083|PMID:17584854 20170412 RGD DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human) 619717 Tuba1a tubulin, alpha 1A gene DOID:0050453 lissencephaly ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:22408144|PMID:24510153|PMID:24860126|PMID:25741868|PMID:26350204|PMID:26663670|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660 619717 Tuba1a tubulin, alpha 1A gene DOID:0050453 lissencephaly ISS RGD:1607082 D RGD:13592920 20180518 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 619717 Tuba1a tubulin, alpha 1A gene DOID:0050562 West syndrome ISO RGD:1607082 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: West syndrome PMID:25741868|PMID:26130693 619717 Tuba1a tubulin, alpha 1A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1607082 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 619717 Tuba1a tubulin, alpha 1A gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1607082 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 619717 Tuba1a tubulin, alpha 1A gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1607082 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome PMID:25741868 619717 Tuba1a tubulin, alpha 1A gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:17584854|PMID:18414213|PMID:18728072|PMID:20466733|PMID:25741868|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660 619717 Tuba1a tubulin, alpha 1A gene DOID:0112227 tubulinopathy ISO RGD:1607082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tubulinopathy PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:21403111|PMID:22408144|PMID:22495306|PMID:24088041|PMID:24510153|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25741868|PMID:26130693|PMID:26350204|PMID:26633545|PMID:26663670|PMID:27431206|PMID:28407358|PMID:28492532|PMID:28677066|PMID:28973083|PMID:29158550|PMID:29671837|PMID:29706646|PMID:29907476|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31474318|PMID:31628766|PMID:31696992|PMID:31833200|PMID:32581362|PMID:32989326|PMID:33077954|PMID:33604570|PMID:3680207|PMID:6945576 619717 Tuba1a tubulin, alpha 1A gene DOID:0112232 lissencephaly 3 ISO RGD:1607082 D RGD:7240710 20131030 OMIM 619717 Tuba1a tubulin, alpha 1A gene DOID:0112232 lissencephaly 3 ISO RGD:1607082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:21403111|PMID:22408144|PMID:22495306|PMID:24088041|PMID:24510153|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25741868|PMID:26130693|PMID:26350204|PMID:26467025|PMID:26633545|PMID:26663670|PMID:28407358|PMID:28492532|PMID:28677066|PMID:28973083|PMID:29158550|PMID:29671837|PMID:29706646|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31474318|PMID:31628766|PMID:31696992|PMID:31833200|PMID:32581362|PMID:32989326|PMID:33077954|PMID:33604570|PMID:34906502 619717 Tuba1a tubulin, alpha 1A gene DOID:10907 microcephaly ISO RGD:1607082 D RGD:11069114|PMID:18728072 20170413 RGD associated with Lissencephaly;DNA:missense mutations:cds: 619717 Tuba1a tubulin, alpha 1A gene DOID:11383 cryptorchidism ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:18954413|PMID:24860126|PMID:25741868|PMID:28492532|PMID:30744660|PMID:32581362 619717 Tuba1a tubulin, alpha 1A gene DOID:11832 visual epilepsy ISO RGD:1607082 D RGD:11067701|PMID:18954413 20170412 RGD associated with Lissencephaly;DNA:missense mutations:cds: 619717 Tuba1a tubulin, alpha 1A gene DOID:14250 Down syndrome ISO RGD:1607082 D RGD:12859084|PMID:21262400 20170412 RGD protein:decreased expression:brain: 619717 Tuba1a tubulin, alpha 1A gene DOID:1826 epilepsy ISO RGD:1607082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 619717 Tuba1a tubulin, alpha 1A gene DOID:1969 cerebral palsy ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:30744660|PMID:32989326 619717 Tuba1a tubulin, alpha 1A gene DOID:2490 congenital nervous system abnormality ISS RGD:1550064 D RGD:13592920 20210304 MouseDO 619717 Tuba1a tubulin, alpha 1A gene DOID:2785 Dandy-Walker syndrome ISO RGD:1607082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:20466733|PMID:25741868|PMID:28492532|PMID:30744660|PMID:31474318|PMID:31628766|PMID:33077954 619717 Tuba1a tubulin, alpha 1A gene DOID:308 early myoclonic encephalopathy ISO RGD:1607082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200 619717 Tuba1a tubulin, alpha 1A gene DOID:480 movement disease ISO RGD:1607082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:30744660|PMID:32989326 619717 Tuba1a tubulin, alpha 1A gene DOID:630 genetic disease ISO RGD:1607082 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:19344873|PMID:20466733|PMID:22495306|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25363768|PMID:25741868|PMID:25956360|PMID:26130693|PMID:26493046|PMID:26663670|PMID:27129203|PMID:28407358|PMID:28492532|PMID:29158550|PMID:29671837|PMID:29907476|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31474318|PMID:31628766|PMID:31696992|PMID:32581362|PMID:33077954|PMID:3316988|PMID:33604570|PMID:35404502|PMID:3680207|PMID:6945576 619717 Tuba1a tubulin, alpha 1A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1607082 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868 619717 Tuba1a tubulin, alpha 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:25131622|PMID:25741868|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570 619717 Tuba1a tubulin, alpha 1A gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1607082 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:25741868|PMID:28492532 619717 Tuba1a tubulin, alpha 1A gene DOID:9006534 Nervous System Malformations ISO RGD:1607082 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 619717 Tuba1a tubulin, alpha 1A gene DOID:9007102 Myocardial Ischemia ISO RGD:1607082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 619717 Tuba1a tubulin, alpha 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607082 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619717 Tuba1a tubulin, alpha 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1550064 D RGD:12859087|PMID:22101068 20170412 RGD DNA:missense mutation:exon: 619717 Tuba1a tubulin, alpha 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1607082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25131622|PMID:25741868|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570 619718 Sv2c synaptic vesicle glycoprotein 2c gene DOID:12377 spinal muscular atrophy ISO RGD:1551020 D RGD:11535337|PMID:28173138 20211202 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) 619718 Sv2c synaptic vesicle glycoprotein 2c gene DOID:630 genetic disease ISO RGD:1346779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619718 Sv2c synaptic vesicle glycoprotein 2c gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346779 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619719 Mdh2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:7240710 20190315 OMIM 619719 Mdh2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 PMID:25741868|PMID:27989324|PMID:28492532 619719 Mdh2 malate dehydrogenase 2 gene DOID:2316 brain ischemia IDA D RGD:1582465|PMID:6282622 20061109 RGD 619719 Mdh2 malate dehydrogenase 2 gene DOID:305 carcinoma ISO RGD:733026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619719 Mdh2 malate dehydrogenase 2 gene DOID:4001 ovarian carcinoma ISO RGD:733026 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 619719 Mdh2 malate dehydrogenase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733026 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619719 Mdh2 malate dehydrogenase 2 gene DOID:5844 myocardial infarction IDA D RGD:1582468|PMID:9753871 20061109 RGD 619719 Mdh2 malate dehydrogenase 2 gene DOID:6000 congestive heart failure IDA D RGD:1582470|PMID:16786185 20061109 RGD 619719 Mdh2 malate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:733026 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619719 Mdh2 malate dehydrogenase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619719 Mdh2 malate dehydrogenase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619719 Mdh2 malate dehydrogenase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:733026 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 619719 Mdh2 malate dehydrogenase 2 gene DOID:936 brain disease ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:25741868|PMID:27989324|PMID:28492532 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:731699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:1909 melanoma ISO RGD:731699 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731699 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:630 genetic disease ISO RGD:731699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:9006205 Animal Disease Models ISO RGD:731699 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731699 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 61972 Slc15a2 solute carrier family 15 member 2 gene DOID:9270 alkaptonuria ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 619721 Rgcc regulator of cell cycle gene DOID:630 genetic disease ISO RGD:733140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619721 Rgcc regulator of cell cycle gene DOID:9007102 Myocardial Ischemia ISO RGD:733140 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 619722 Unc13a unc-13 homolog A gene DOID:0050753 cerebellar ataxia ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28192369 619722 Unc13a unc-13 homolog A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345956 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 619722 Unc13a unc-13 homolog A gene DOID:1059 intellectual disability ISO RGD:1345956 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 619722 Unc13a unc-13 homolog A gene DOID:12849 autistic disorder ISO RGD:1345956 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619722 Unc13a unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19734901 619722 Unc13a unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345956 D RGD:5686384|PMID:19734901 20120120 RGD DNA:SNP:intron:rs12608932 (human) 619722 Unc13a unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:27790088 619722 Unc13a unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:1345956 D RGD:5686382|PMID:20385924 20120120 RGD DNA:SNP:intron:rs12608932 (human) 619722 Unc13a unc-13 homolog A gene DOID:630 genetic disease ISO RGD:1345956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619722 Unc13a unc-13 homolog A gene DOID:9002231 Fetal Growth Retardation IEP D RGD:5686390|PMID:18787382 20120120 RGD 619722 Unc13a unc-13 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345956 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619723 Unc13b unc-13 homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:0080600 COVID-19 ISO RGD:734027 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619723 Unc13b unc-13 homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:734027 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:734027 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:630 genetic disease ISO RGD:734027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619723 Unc13b unc-13 homolog B gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:734027 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 619723 Unc13b unc-13 homolog B gene DOID:9870 galactosemia ISO RGD:734027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:7240710 20140911 OMIM 619724 Tdrd7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract 36 PMID:25741868|PMID:28418495|PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1350621 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619724 Tdrd7 tudor domain containing 7 gene DOID:12336 male infertility ISO RGD:1350621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 619724 Tdrd7 tudor domain containing 7 gene DOID:12712 nephronophthisis ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:1686 glaucoma ISO RGD:1350621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 619724 Tdrd7 tudor domain containing 7 gene DOID:630 genetic disease ISO RGD:1350621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619724 Tdrd7 tudor domain containing 7 gene DOID:83 cataract ISO RGD:1350621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 619724 Tdrd7 tudor domain containing 7 gene DOID:83 cataract ISO RGD:1350621 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital cataract 619724 Tdrd7 tudor domain containing 7 gene DOID:9001488 Human Influenza ISO RGD:1350621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 619724 Tdrd7 tudor domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1350621 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 619725 Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:4440 seminoma ISO RGD:1345865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21519793 619725 Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:630 genetic disease ISO RGD:1345865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619725 Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:9970 obesity ISO RGD:1345865 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 619726 Csde1 cold shock domain containing E1 gene DOID:0080690 RASopathy ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 619726 Csde1 cold shock domain containing E1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 619726 Csde1 cold shock domain containing E1 gene DOID:630 genetic disease ISO RGD:1607084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:731548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:0050777 Joubert syndrome ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:731548 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:12849 autistic disorder ISO RGD:731548 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:630 genetic disease ISO RGD:731548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619727 Rasd1 ras related dexamethasone induced 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731548 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 619728 Ntf3 neurotrophin 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732368 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 619728 Ntf3 neurotrophin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 619728 Ntf3 neurotrophin 3 gene DOID:0110106 atrial heart septal defect 1 ISS RGD:732369 D RGD:13592920 20180518 MouseDO OMIM:108800 619728 Ntf3 neurotrophin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732368 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 619728 Ntf3 neurotrophin 3 gene DOID:10652 Alzheimer's disease ISO RGD:732368 D RGD:1358754|PMID:9502217 19990101 RGD DNA:missense mutation:cds:p.G63E (human) 619728 Ntf3 neurotrophin 3 gene DOID:10908 hydrocephalus ISO RGD:732368 D RGD:1358755|PMID:11580868 19990101 RGD protein:increased expression:cerebrospinal fluid (human) 619728 Ntf3 neurotrophin 3 gene DOID:12849 autistic disorder ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 619728 Ntf3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732368 D RGD:4891110|PMID:16315781 20110105 RGD 619728 Ntf3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:732368 D RGD:5144061|PMID:21059230 20110728 RGD protein:increased expression:respiratory system fluid/secretion 619728 Ntf3 neurotrophin 3 gene DOID:14250 Down syndrome ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 619728 Ntf3 neurotrophin 3 gene DOID:1824 status epilepticus IEP D RGD:41404707|PMID:22019057 20210204 RGD RNA:decreased expression: hippocampus 619728 Ntf3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 619728 Ntf3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732368 D RGD:4891123|PMID:11737043 20110105 RGD 619728 Ntf3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732369 D RGD:4891068|PMID:17497413 20110104 RGD protein:increased expression:lung, serum 619728 Ntf3 neurotrophin 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732368 D RGD:4891120|PMID:15843147 20110105 RGD mRNA:decreased expression:bronchus 619728 Ntf3 neurotrophin 3 gene DOID:5419 schizophrenia ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572319 619728 Ntf3 neurotrophin 3 gene DOID:630 genetic disease ISO RGD:732368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619728 Ntf3 neurotrophin 3 gene DOID:6419 tetralogy of Fallot ISS RGD:732369 D RGD:13592920 20180518 MouseDO OMIM:187500 619728 Ntf3 neurotrophin 3 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 619728 Ntf3 neurotrophin 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732368 D RGD:4891112|PMID:16022868 20110105 RGD 619728 Ntf3 neurotrophin 3 gene DOID:9002211 Hyperalgesia ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15659614 619728 Ntf3 neurotrophin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8921280|PMID:8978711 619728 Ntf3 neurotrophin 3 gene DOID:9004538 Hearing Loss ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18024279 619728 Ntf3 neurotrophin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732368 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 619728 Ntf3 neurotrophin 3 gene DOID:9743 diabetic neuropathy ISO RGD:732368 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11779407 619729 Lrp3 LDL receptor related protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:733839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 619729 Lrp3 LDL receptor related protein 3 gene DOID:630 genetic disease ISO RGD:733839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619729 Lrp3 LDL receptor related protein 3 gene DOID:9119 acute myeloid leukemia ISO RGD:733839 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:7240710 20170419 OMIM 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 PMID:25477146|PMID:25741868|PMID:28492532 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:10763 hypertension ISO RGD:733864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:3312 bipolar disorder ISO RGD:733864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:630 genetic disease ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:6432 pulmonary hypertension ISO RGD:733864 D RGD:1580490|PMID:15358862 19990101 RGD 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:9001542 Albuminuria IEP D RGD:7247603|PMID:19887786 20130718 RGD associated with Hypertension;mRNA, protein:increased expression:kidney cortex 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733864 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:733864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 61973 Trpc3 transient receptor potential cation channel, subfamily C, member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733864 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:7240710 20141015 OMIM 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23190606|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24088041|PMID:24526230|PMID:24706558|PMID:24742798|PMID:24785942|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25497598|PMID:25545912|PMID:25697102|PMID:25741868|PMID:25772097|PMID:26633545|PMID:26643067|PMID:26795593|PMID:27538619|PMID:28275661|PMID:28492532|PMID:28592043|PMID:28791129|PMID:28973395|PMID:29451896|PMID:30079973|PMID:3156966|PMID:31692161|PMID:32581362|PMID:33027950|PMID:3405308|PMID:7983175 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:0080490 mucolipidosis type IV ISO RGD:1348861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:7240710 20131030 OMIM 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsion dystonia 4 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24526230|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25085639|PMID:25326635|PMID:25545912|PMID:25741868|PMID:26643067|PMID:28275661|PMID:28492532|PMID:28973395|PMID:30079973|PMID:3156966|PMID:3405308|PMID:7983175 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:10907 microcephaly ISO RGD:1348861 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25085639|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28973395|PMID:32581362 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:1969 cerebral palsy ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18851904|PMID:24526230|PMID:24850488|PMID:25085639|PMID:25326637|PMID:25741868|PMID:28275661|PMID:28492532|PMID:28973395|PMID:32581362 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:3213 demyelinating disease IAGP D RGD:150429639|PMID:28393430 20210910 RGD DNA:missense mutation:cds:p.Ala302Thr (rat) 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:543 dystonia ISO RGD:1348861 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Dystonic disorder 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:630 genetic disease ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791712|PMID:24706558|PMID:24742798|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326637|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28275661|PMID:28393430|PMID:28492532|PMID:28973395|PMID:29451896|PMID:32581362 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:9006534 Nervous System Malformations ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16707859|PMID:18466252|PMID:23582646|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25326635|PMID:25545912|PMID:25741868|PMID:28492532|PMID:28973395|PMID:30079973|PMID:7983175 619730 Tubb4a tubulin, beta 4A class IVa gene DOID:9008086 Developmental Disabilities ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18851904|PMID:24526230|PMID:24785942|PMID:24850488|PMID:25741868|PMID:28275661|PMID:28492532|PMID:32581362 619731 Lrp4 LDL receptor related protein 4 gene DOID:0060251 sclerosteosis ISO RGD:731744 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 619731 Lrp4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:7240710 20140911 OMIM 619731 Lrp4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerosteosis 2 PMID:11385236|PMID:21471202|PMID:24234652|PMID:25741868|PMID:28492532|PMID:7891385 619731 Lrp4 LDL receptor related protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:731744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 619731 Lrp4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:7240710 20130221 OMIM 619731 Lrp4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:7891385|PMID:9182770|PMID:9536098 619731 Lrp4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:7240710 20170329 OMIM 619731 Lrp4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:24234652|PMID:25741868|PMID:28492532 619731 Lrp4 LDL receptor related protein 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 619731 Lrp4 LDL receptor related protein 4 gene DOID:1059 intellectual disability ISO RGD:731744 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619731 Lrp4 LDL receptor related protein 4 gene DOID:11193 syndactyly ISO RGD:731744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 619731 Lrp4 LDL receptor related protein 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 619731 Lrp4 LDL receptor related protein 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:731744 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 619731 Lrp4 LDL receptor related protein 4 gene DOID:630 genetic disease ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619731 Lrp4 LDL receptor related protein 4 gene DOID:9009007 Tooth Abnormalities ISO RGD:731744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 619732 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 619732 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:2316 brain ischemia IEP D RGD:9831167|PMID:15652517 20150227 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus (rat) 619732 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:630 genetic disease ISO RGD:732934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619732 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:9008681 Deafness IEP D RGD:2316516|PMID:17884299 20150227 RGD mRNA:decreased expression:inferior colliculus (rat) 619733 Kcnk15 potassium two pore domain channel subfamily K member 15 gene DOID:2234 focal epilepsy ISO RGD:1345243 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 619733 Kcnk15 potassium two pore domain channel subfamily K member 15 gene DOID:630 genetic disease ISO RGD:1345243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619733 Kcnk15 potassium two pore domain channel subfamily K member 15 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1345243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 619734 Ilf3 interleukin enhancer binding factor 3 gene DOID:630 genetic disease ISO RGD:731671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619735 Gtf2b general transcription factor IIB gene DOID:630 genetic disease ISO RGD:731364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619736 Rab1a RAB1A, member RAS oncogene family gene DOID:12930 dilated cardiomyopathy ISS RGD:731304 D RGD:13592920 20180518 MouseDO 619736 Rab1a RAB1A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619737 Rab6a RAB6A, member RAS oncogene family gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320484 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 619737 Rab6a RAB6A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1320484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619737 Rab6a RAB6A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619739 Micu2 mitochondrial calcium uptake 2 gene DOID:630 genetic disease ISO RGD:1353196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:7240710 20180725 OMIM 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tyrosinemia type III PMID:10942115|PMID:17560158|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:28492532|PMID:28649543|PMID:31028937|PMID:31589614|PMID:32109208|PMID:32520295|PMID:9343288 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:7240710 20130221 OMIM 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hawkinsinuria PMID:10942115|PMID:11073718|PMID:1130176|PMID:1519651|PMID:17560158|PMID:17576681|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:26226126|PMID:28492532|PMID:28649543|PMID:30984715|PMID:31028937|PMID:31589614|PMID:32520295|PMID:858207|PMID:9536098 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:630 genetic disease ISO RGD:731782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:22872058 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9008086 Developmental Disabilities ISO RGD:731782 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9275 tyrosinemia ISO RGD:731782 D RGD:11554173 20180801 CTD CTD Direct Evidence: marker/mechanism 61974 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9275 tyrosinemia ISO RGD:731782 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 619740 Rab9a RAB9A, member RAS oncogene family gene DOID:0050777 Joubert syndrome ISO RGD:1350613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 619740 Rab9a RAB9A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1350613 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619740 Rab9a RAB9A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619740 Rab9a RAB9A, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350613 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619741 Cdh10 cadherin 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1350088 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 619741 Cdh10 cadherin 10 gene DOID:12849 autistic disorder ISO RGD:1350088 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 619741 Cdh10 cadherin 10 gene DOID:1324 lung cancer ISO RGD:1350088 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 619741 Cdh10 cadherin 10 gene DOID:630 genetic disease ISO RGD:1350088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619741 Cdh10 cadherin 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350088 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619742 Cdh11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:7240710 20190315 OMIM 619742 Cdh11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elsahy-Waters syndrome PMID:25741868|PMID:27431290|PMID:29271567 619742 Cdh11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:7240710 20220413 OMIM 619742 Cdh11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 PMID:33811546 619742 Cdh11 cadherin 11 gene DOID:13501 Moebius syndrome ISO RGD:1351773 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 619742 Cdh11 cadherin 11 gene DOID:630 genetic disease ISO RGD:1351773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619742 Cdh11 cadherin 11 gene DOID:936 brain disease ISO RGD:1351773 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868 619743 Lcp2 lymphocyte cytosolic protein 2 gene DOID:630 genetic disease ISO RGD:732713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619743 Lcp2 lymphocyte cytosolic protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619743 Lcp2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:7240710 20210707 OMIM 619743 Lcp2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 81 PMID:25741868|PMID:33231617 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:0060327 omphalocele ISO RGD:733101 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:0060354 Stormorken syndrome ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:733101 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:630 genetic disease ISO RGD:733101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23561847|PMID:25741868|PMID:28492532|PMID:9536098 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:9000867 Hyperphosphatasia with Mental Retardation Syndrome 3 ISO RGD:733101 D RGD:7240710 20130731 OMIM 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:9000867 Hyperphosphatasia with Mental Retardation Syndrome 3 ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 PMID:21629298|PMID:21643797|PMID:23561846|PMID:23561847|PMID:25741868|PMID:25741869 619744 Pgap2 post-GPI attachment to proteins 2 gene DOID:9005616 Micrognathism ISO RGD:733101 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 619745 Cdh13 cadherin 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:734374 D RGD:2293539|PMID:18387661 20080603 RGD DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:11054 urinary bladder cancer ISO RGD:734374 D RGD:2293014|PMID:18094410 20080603 RGD DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:2293542|PMID:17764565 20080603 RGD DNA:hypermethylation 619745 Cdh13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:734735|PMID:8673923 19990101 RGD protein:decreased expression:breast duct: 619745 Cdh13 cadherin 13 gene DOID:2349 arteriosclerosis ISO RGD:734374 D RGD:2293555|PMID:11326751 20080604 RGD protein:increased expression:aorta 619745 Cdh13 cadherin 13 gene DOID:2394 ovarian cancer ISO RGD:734374 D RGD:2298987|PMID:10493953 20080807 RGD DNA:deletion, hypermethylation 619745 Cdh13 cadherin 13 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734374 D RGD:2298985|PMID:18519763 20080807 RGD DNA:hypomethylation 619745 Cdh13 cadherin 13 gene DOID:303 substance-related disorder IMP D RGD:13503340|PMID:28387990 20200819 RGD 619745 Cdh13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 619745 Cdh13 cadherin 13 gene DOID:3459 breast carcinoma ISO RGD:734374 D RGD:2293545|PMID:11389090 20080603 RGD DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 619745 Cdh13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:2293545|PMID:11389090 20080603 RGD DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:4247 coronary restenosis IEP D RGD:2293553|PMID:12376824 20080604 RGD protein:increased expression:artery, smooth muscle cell 619745 Cdh13 cadherin 13 gene DOID:4362 cervical cancer ISO RGD:734374 D RGD:2293543|PMID:17548682 20080603 RGD DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:630 genetic disease ISO RGD:734374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619745 Cdh13 cadherin 13 gene DOID:670 amphetamine abuse ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 619745 Cdh13 cadherin 13 gene DOID:684 hepatocellular carcinoma ISO RGD:734374 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18425332|PMID:18553387|PMID:28284560 619745 Cdh13 cadherin 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 619745 Cdh13 cadherin 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:734374 D RGD:2293544|PMID:17029216 20080603 RGD DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17288544|PMID:18264096 619745 Cdh13 cadherin 13 gene DOID:9005172 Lung Neoplasms IDA D RGD:2293546|PMID:17971904 20080603 RGD associated with Inflammation;DNA:hypermethylation:promoter 619745 Cdh13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 619745 Cdh13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:734736|PMID:9737784 19990101 RGD 619745 Cdh13 cadherin 13 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734375 D RGD:2293540|PMID:18316604 20080603 RGD 619745 Cdh13 cadherin 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:734375 D RGD:9068941 20200609 RGD PMID:18316604|REF_RGD_ID:2293540 619745 Cdh13 cadherin 13 gene DOID:9206 Barrett's esophagus ISO RGD:734374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 619746 Gtf3a general transcription factor III A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 619746 Gtf3a general transcription factor III A gene DOID:630 genetic disease ISO RGD:732489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619747 Stx7 syntaxin 7 gene DOID:630 genetic disease ISO RGD:737314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619748 Cdh17 cadherin 17 gene DOID:0080820 occupational asthma ISO RGD:733806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 619748 Cdh17 cadherin 17 gene DOID:11372 megacolon ISO RGD:733806 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 619748 Cdh17 cadherin 17 gene DOID:630 genetic disease ISO RGD:733806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619749 Gna11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:7240710 20130821 OMIM 619749 Gna11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 PMID:17576681|PMID:23802516|PMID:23802536|PMID:25741868|PMID:26729423|PMID:28194446|PMID:28492532|PMID:9536098 619749 Gna11 G protein subunit alpha 11 gene DOID:0080351 CLOVES syndrome ISO RGD:1342605 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:25741868|PMID:27476652 619749 Gna11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:7240710 20140911 OMIM 619749 Gna11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 PMID:23802516|PMID:23802536|PMID:24823460|PMID:25741868|PMID:26994139|PMID:28194446|PMID:28492532|PMID:6278146 619749 Gna11 G protein subunit alpha 11 gene DOID:0111529 familial multiple nevi flammei ISO RGD:1342605 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:25741868|PMID:27476652 619749 Gna11 G protein subunit alpha 11 gene DOID:1682 congenital heart disease ISO RGD:1342605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 619749 Gna11 G protein subunit alpha 11 gene DOID:1909 melanoma ISO RGD:1342605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23432625 619749 Gna11 G protein subunit alpha 11 gene DOID:1909 melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 619749 Gna11 G protein subunit alpha 11 gene DOID:6039 uveal melanoma ISO RGD:1342605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22733540|PMID:26397223|PMID:27089179 619749 Gna11 G protein subunit alpha 11 gene DOID:6039 uveal melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 619749 Gna11 G protein subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619749 Gna11 G protein subunit alpha 11 gene DOID:8923 skin melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 619749 Gna11 G protein subunit alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342605 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619749 Gna11 G protein subunit alpha 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1551128 D RGD:737757|PMID:9687499 20180126 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0050473 Alstrom syndrome ISO RGD:737465 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30250467 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:737465 D RGD:11344917|PMID:19020530 20160708 RGD DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:737465 D RGD:11352244|PMID:15114591 20160712 RGD DNA:polymorphism:exon:49G>A(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0080162 lupus nephritis ISO RGD:737465 D RGD:7204726|PMID:15146424 20121231 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:737465 D RGD:2301997|PMID:12021137 20180206 RGD DNA:SNP: :49A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737465 D RGD:7421511|PMID:16893393 20131120 RGD associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:737465 D RGD:7421521|PMID:22663548 20131120 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737465 D RGD:7421523|PMID:19734241 20131120 RGD protein:increased expression:serum: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0081267 graft-versus-host disease ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14642129 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737466|RGD:737465 D RGD:11344912|PMID:7515723 20160708 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:7240710 20130425 OMIM 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:10325 silicosis ISO RGD:737465 D RGD:4891515|PMID:16831302 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:1300387|PMID:10189842 19990101 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:7240710 20230505 OMIM 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:10608 celiac disease susceptibility ISO RGD:737465 D RGD:11344917|PMID:19020530 20160708 RGD DNA:SNPs,haplotype: :rs231770,rs231775(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:11168 anogenital venereal wart ISO RGD:737465 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:11335 sarcoidosis ISO RGD:737465 D RGD:4891520|PMID:14620161 20110118 RGD DNA:polymorphism:exon (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:737465 D RGD:7204724|PMID:12022356 20121231 RGD DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:737465 D RGD:14398743|PMID:21594562 20190425 RGD DNA:SNPs: :rs231775, rs3087243, rs231725 (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:737465 D RGD:14398725|PMID:17482523 20190424 RGD DNA:SNP:CDS:49A>G(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:14398744|PMID:16584111 20190426 RGD DNA:SNP:CDS:60G>A(rs3087243)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:2301998|PMID:10782900 20081113 RGD autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12306 vitiligo ISO RGD:737465 D RGD:7411687|PMID:15649153 20131118 RGD associated with Autoimmune Diseases;DNA:polymorphisms: : 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12306 vitiligo no_association ISO RGD:737465 D RGD:7411697|PMID:18200060 20131119 RGD DNA:SNPs:multiple: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:7411696|PMID:21794098 20131119 RGD DNA:SNP:3'UTR:rs3087243(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:7411699|PMID:19129082 20131119 RGD DNA:SNP:exon:+49A>G rs231775)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19731979|PMID:21841780|PMID:23104008 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:1300388|PMID:10369864 19990101 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:2302001|PMID:9672157 20081113 RGD DNA:SNP:promoter:-318C>T (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease no_association ISO RGD:737465 D RGD:2302000|PMID:9861324 20081113 RGD DNA:SNP:promoter:-318C>T (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:11352245|PMID:10404810 20160712 RGD DNA:polymorphism:exon:49G>A(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:7421505|PMID:12780750 20131120 RGD DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:7421507|PMID:15785242 20131120 RGD DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:7421515|PMID:14986169 20131120 RGD DNA:SNP: :-318C>T(rs11571302)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:7421517|PMID:20352109 20131120 RGD DNA:SNP: :rs231779(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12365 malaria disease_progression ISO RGD:737465 D RGD:38455986|PMID:28892065 20200807 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12365 malaria treatment ISO RGD:737466 D RGD:38455986|PMID:28892065 20200807 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12549 hepatitis A disease_progression ISO RGD:737465 D RGD:40818419|PMID:26347518 20201120 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12894 Sjogren's syndrome ISO RGD:737465 D RGD:7421519|PMID:12528117 20131120 RGD mRNA:increased expression:salivary gland: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:737465 D RGD:7421506|PMID:16869018 20131120 RGD DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:13241 Behcet's disease ISO RGD:737465 D RGD:7411682|PMID:19563524 20131118 RGD DNA:SNPs: :1661A>G,49C>A(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:1394 urinary schistosomiasis susceptibility ISO RGD:737465 D RGD:7204674|PMID:22288822 20121226 RGD DNA:SNPs:multiple:Gabonese(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:7411684|PMID:20482250 20131118 RGD protein:increased expression:serum: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:7421502|PMID:17825114 20131120 RGD DNA:SPNs:multiple: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:737465 D RGD:7411686|PMID:19622768 20131118 RGD DNA:SNP: :rs3087243(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:1909 melanoma ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21802280 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:1909 melanoma treatment ISO RGD:737465 D RGD:7411681|PMID:23641913 20131118 RGD DNA:SNPs: :-11577G>A,rs3087243(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2043 hepatitis B disease_progression ISO RGD:737465 D RGD:14398731|PMID:15452244 20190424 RGD DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:737465 D RGD:14398726|PMID:30320190 20190424 RGD DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:1358538|PMID:10082437 19990101 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:7411672|PMID:19740340 20131118 RGD DNA:SNPs: :rs3087243,rs11571302(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2377 multiple sclerosis no_association ISO RGD:737465 D RGD:2301975|PMID:17942509 20081112 RGD DNA:SNP:CDS:49A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:737465 D RGD:7411686|PMID:19622768 20131118 RGD DNA:SNP: :rs3087243(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2773 contact dermatitis ISO RGD:737466 D RGD:7421503|PMID:11348467 20131120 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:4891510|PMID:18699801 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:4891516|PMID:16708626 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:4891519|PMID:15316504 20110118 RGD DNA:SNPs: :multiple (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:4891526|PMID:19895365 20110118 RGD DNA:SNP: :rs3087243 (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:4891527|PMID:17469155 20110118 RGD DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737466 D RGD:4891514|PMID:17237396 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737466 D RGD:4891517|PMID:16677453 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma ISO RGD:737466 D RGD:4891521|PMID:12956753 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma no_association ISO RGD:737465 D RGD:4891528|PMID:16926542 20110118 RGD DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:4891522|PMID:12114354 20110118 RGD DNA:polymorphism:promoter:-318C>T (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:4891529|PMID:15871446 20110118 RGD protein:increased expression:serum 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:2841 asthma treatment ISO RGD:737466 D RGD:11344922|PMID:11726402 20160708 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737465 D RGD:4891499|PMID:21129004 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737465 D RGD:4891504|PMID:20732370 20110118 RGD DNA:SNP: :-318C>T (rs5742909) (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:321 tropical spastic paraparesis ISO RGD:737465 D RGD:38549361|PMID:20945034 20200831 RGD mRNA:decreased expression: T cell 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:3310 atopic dermatitis ISO RGD:737465 D RGD:7411700|PMID:22357516 20131119 RGD mRNA:increased expression:blood: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:737465 D RGD:7411698|PMID:16445777 20131119 RGD DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:4450 renal cell carcinoma ISO RGD:737465 D RGD:7204723|PMID:17678726 20121231 RGD DNA:SNPs:exons:rs3087243, rs231775 (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737466 D RGD:11344920|PMID:10436391 20160708 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:4483 rhinitis ISO RGD:737465 D RGD:4891512|PMID:17625281 20110118 RGD protein:increased expression:T cell 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737465 D RGD:6902936|PMID:10712436 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737466 D RGD:6902936|PMID:10712436 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:737465 D RGD:11352257|PMID:8206086 20160712 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:557 kidney disease susceptibility ISO RGD:737465 D RGD:11344910|PMID:22700162 20160708 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:574 peripheral nervous system disease ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:5773 oral submucous fibrosis ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:5844 myocardial infarction ISO RGD:737465 D RGD:2301976|PMID:17652883 20081112 RGD DNA:SNP:CDS:49A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:612 primary immunodeficiency disease ISO RGD:737465 D RGD:11053601|PMID:25329329 20160711 RGD DNA:splice site,nonsense, missense mutations:cds, splice junction: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:612 primary immunodeficiency disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25329329|PMID:25741868|PMID:28492532|PMID:30250467 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:630 genetic disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25213377|PMID:25329329|PMID:27102614|PMID:27908448|PMID:28492532|PMID:28960754|PMID:29200144|PMID:29330115|PMID:29729943|PMID:30443250|PMID:31993940|PMID:32499327 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737465 D RGD:14398741|PMID:28648905 20190425 RGD protein:increased expression:CD4+ and CD8+ T cells: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737465 D RGD:14398742|PMID:23432218 20190425 RGD DNA:SNPs: :rs231775,rs231725(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:718 autoimmune hemolytic anemia susceptibility ISO RGD:737465 D RGD:11352242|PMID:12555221 20160712 RGD DNA:polymorphism:exon:49G>A(p.T17A)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:737465 D RGD:1300386|PMID:9398726 19990101 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:737465 D RGD:2302003|PMID:16352685 20081113 RGD DNA:SNP:3' utr:6230G>A (rs3087243) (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto thyroiditis PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:737465 D RGD:7421515|PMID:14986169 20131120 RGD DNA:SNP: :-318C>T(rs11571302)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:7442 monoclonal gammopathy of uncertain significance susceptibility ISO RGD:737465 D RGD:11352247|PMID:11167807 20160712 RGD DNA:microsatellite polymorphism:exon: : 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:783 end stage renal disease ISO RGD:737465 D RGD:7204725|PMID:15708894 20121231 RGD associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:820 myocarditis IMP D RGD:7204512|PMID:16198253 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:850 lung disease ISO RGD:737466 D RGD:4891507|PMID:20385880 20110118 RGD Acute Lung Injury 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:8893 psoriasis treatment ISO RGD:737465 D RGD:7411683|PMID:10974034 20131118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737466 D RGD:4891523|PMID:10611340 20110118 RGD associated with Prostatic Neoplasms 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737465 D RGD:4891522|PMID:12114354 20110118 RGD DNA:polymorphism:exon:49A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737465 D RGD:7204722|PMID:18049334 20121231 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737466 D RGD:4891518|PMID:15701862 20110118 RGD associated with Mammary Neoplasms, Experimental 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:737465 D RGD:14398728|PMID:15208156 20190424 RGD DNA:SNP::-318 T>C(rs5742909)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737465 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737465 D RGD:2312302|PMID:18026823 20130102 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma: 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:11344923|PMID:16094420 20160708 RGD protein:increased expression:T cell 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:11352246|PMID:15914560 20160712 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737466 D RGD:4891524|PMID:9223321 20110118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:737465 D RGD:7204519|PMID:7543497 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:7204500|PMID:22354915 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002720 Splenomegaly treatment ISO RGD:737466 D RGD:14398737|PMID:10676886 20190425 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737465 D RGD:6902906|PMID:9379015 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9002805 Enterocolitis treatment ISO RGD:737465 D RGD:14398729|PMID:16710025 20190424 RGD associated with cancers; 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:737465 D RGD:7204687|PMID:19815671 20121226 RGD DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737465 D RGD:14398739|PMID:12696006 20190425 RGD DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:737465 D RGD:7411680|PMID:24041689 20131118 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004150 Lymphadenopathy treatment ISO RGD:737466 D RGD:14398737|PMID:10676886 20190425 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004236 Autoimmune Hypothyroidism ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004283 Transplant Rejection IMP D RGD:7204518|PMID:18074399 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:7204516|PMID:14551031 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:7204671|PMID:22418270 20121226 RGD DNA:SNP: :rs733618, chinese(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737466 D RGD:7204515|PMID:12096784 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:737465 D RGD:7204678|PMID:20940051 20121226 RGD DNA:SNP: :rs231775, korean(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737465 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9005167 Cryptogenic Cirrhosis susceptibility ISO RGD:737465 D RGD:14398738|PMID:18049163 20190425 RGD DNA:SNP: :-318C>T(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9005372 Inflammation ISO RGD:737465 D RGD:4891500|PMID:21072213 20110118 RGD associated with Silicosis;protein:increased expression:T cell 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737465 D RGD:7421509|PMID:11481266 20131120 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737466 D RGD:7204514|PMID:14528321 20121221 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737465 D RGD:7204727|PMID:9407517 20121231 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737466 D RGD:7204675|PMID:22189844 20121226 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:7240710 20130731 OMIM 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto Disease PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:737465 D RGD:7421513|PMID:18752454 20131120 RGD DNA:SNP:cds:+49A/G (rs231775)(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:7240710 20170215 OMIM 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:11343122|PMID:12353035|PMID:12577056|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:16199547|PMID:17576681|PMID:19380800|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:26478010|PMID:26644313|PMID:26884280|PMID:27102614|PMID:27418640|PMID:27577878|PMID:27908448|PMID:28492532|PMID:28960754|PMID:28983403|PMID:29077208|PMID:29200144|PMID:29225858|PMID:29305966|PMID:29330115|PMID:29375547|PMID:29729943|PMID:29796761|PMID:30048690|PMID:30250467|PMID:30326257|PMID:30377434|PMID:30443250|PMID:30940614|PMID:31396201|PMID:31993940|PMID:32499327|PMID:32499645|PMID:32531373|PMID:34111452|PMID:8817351|PMID:9259273|PMID:9398726|PMID:9536098 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9007651 Chronic Bronchitis ISO RGD:737465 D RGD:4891509|PMID:19386687 20110118 RGD DNA:SNPs: :multiple (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:737465 D RGD:14398727|PMID:16489681 20190424 RGD DNA:SNP: :-318C>T(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:7204691|PMID:18185908 20121226 RGD DNA:polymorphisms:exons:Japanese(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:7240710 20141210 OMIM 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:15138458|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:737466 D RGD:7204684|PMID:19966213 20121226 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9119 acute myeloid leukemia ISO RGD:737465 D RGD:11344911|PMID:19092854 20160708 RGD DNA:SNP:3'UTR:rs3087243(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9383 iridocyclitis ISO RGD:737465 D RGD:7421512|PMID:17287608 20131120 RGD DNA:polymorphism: :-318C>T,(AT)16(human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:737465 D RGD:11352247|PMID:11167807 20160712 RGD DNA:microsatellite polymorphism:exon: : 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:1300385|PMID:9259273 19990101 RGD 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:2301958|PMID:8817351 20081112 RGD DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:2301974|PMID:18443194 20081112 RGD DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:2301995|PMID:16671945 20081113 RGD DNA:SNP:promoter:-1661A>G (human) 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:986 alopecia areata ISO RGD:737465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 61975 Ctla4 cytotoxic T-lymphocyte-associated protein 4 gene DOID:986 alopecia areata susceptibility ISO RGD:737465 D RGD:7411701|PMID:23567921 20131119 RGD DNA:SNP:3'UTR:rs3087243(human) 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:0050712 AGAT deficiency ISO RGD:1343503 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1343503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:0080600 COVID-19 ISO RGD:1343503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1343503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:2717 Bloom syndrome ISO RGD:1343503 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:630 genetic disease ISO RGD:1343503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1343503 D RGD:2299948|PMID:12955079 20080821 RGD protein:decreased expression:prostate gland 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1343503 D RGD:2299948|PMID:12955079 20080821 RGD protein:decreased expression:prostate gland 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:2299950|PMID:18289514 20080821 RGD mRNA:increased expression:brain 619750 Slc30a4 solute carrier family 30 member 4 gene DOID:9256 colorectal cancer ISO RGD:1343503 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619751 Gna15 G protein subunit alpha 15 gene DOID:630 genetic disease ISO RGD:732130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619751 Gna15 G protein subunit alpha 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732130 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619752 Acot12 acyl-CoA thioesterase 12 gene DOID:3571 liver cancer IDA D RGD:13831129|PMID:2566591 20181217 RGD 619752 Acot12 acyl-CoA thioesterase 12 gene DOID:630 genetic disease ISO RGD:736721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619752 Acot12 acyl-CoA thioesterase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736721 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619753 Smpd2 sphingomyelin phosphodiesterase 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 619753 Smpd2 sphingomyelin phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:732430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0110339 osteogenesis imperfecta type 3 ISS RGD:1551964 D RGD:13592920 20180518 MouseDO OMIM:259420 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0110341 osteogenesis imperfecta type 2 ISS RGD:1551964 D RGD:13592920 20180518 MouseDO OMIM:166210 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:12347 osteogenesis imperfecta ISS RGD:1551964 D RGD:13592920 20180518 MouseDO 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:1240 leukemia ISO RGD:1347416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:224 transient cerebral ischemia IDA D RGD:9588303|PMID:24007266 20150511 RGD 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:10041059|PMID:20448054 20150511 RGD protein:increased expression:lung: 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1347416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:6432 pulmonary hypertension treatment IMP D RGD:10042965|PMID:19088082 20150512 RGD 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:9406 hypopituitarism ISS RGD:1551964 D RGD:13592920 20180518 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 619754 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:9675 pulmonary emphysema ISO RGD:1347416 D RGD:10041059|PMID:20448054 20150511 RGD protein:increased expression:lung: 619755 Rac1 Rac family small GTPase 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1605432 D RGD:155230818|PMID:30926638 20220921 RGD mRNA, protein:increased expression:colorectum (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:0050912 colon adenoma ISO RGD:1605432 D RGD:13432048|PMID:12865273 20170914 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1605432 D RGD:153350124|PMID:23559092 20220908 RGD human cell line in a mouse model 619755 Rac1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:153298972|PMID:30064309 20220802 RGD protein:increased expression:colorectum (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:153350139|PMID:25529012 20220909 RGD protein:increased activity:colorectal mucosa (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:7240710 20190315 OMIM 619755 Rac1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 PMID:25741868|PMID:25741888|PMID:28492532|PMID:28886345|PMID:30042656|PMID:32860008|PMID:35139179 619755 Rac1 Rac family small GTPase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605432 D RGD:153350128|PMID:23298303 20220908 RGD protein:increased expression:mucosa of stomach (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 619755 Rac1 Rac family small GTPase 1 gene DOID:1324 lung cancer treatment ISO RGD:1605432 D RGD:155230814|PMID:27299748 20220921 RGD DNA:SNPs:enhancers, intron: (rs836554, rs4720672, rs12536544) (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:1612 breast cancer ISO RGD:1605432 D RGD:155230815|PMID:22345078 20220921 RGD protein:increased expression:breast (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1605432 D RGD:153323321|PMID:25557791 20220815 RGD protein:increased expression:breast (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:1909 melanoma ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 619755 Rac1 Rac family small GTPase 1 gene DOID:1909 melanoma ISO RGD:1605432 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25056119|PMID:26619011 619755 Rac1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1605432 D RGD:13432049|PMID:10597294 20170914 RGD mRNA:alternative form 619755 Rac1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1605432 D RGD:13432051|PMID:19561401 20170914 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma ISO RGD:1605432 D RGD:153350126|PMID:21537609 20220908 RGD protein:increased expression:mucosa (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1553531 D RGD:14392816|PMID:21684285 20190304 RGD mRNA, protein:increased expression:pancreas (mouse) 619755 Rac1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1605432 D RGD:14392806|PMID:23334332 20190301 RGD mRNA:increased expression:pancreas (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:363 uterine cancer ISO RGD:1605432 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25056119|PMID:26619011 619755 Rac1 Rac family small GTPase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1605432 D RGD:153300951|PMID:23485997 20220808 RGD protein:increased expression:stomach (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1553531 D RGD:153345550|PMID:32366477 20220905 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:lung (human) PMID:31779616|REF_RGD_ID:152998910 619755 Rac1 Rac family small GTPase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1605432 D RGD:14392805|PMID:21037555 20190301 RGD human cells in a mouse model 619755 Rac1 Rac family small GTPase 1 gene DOID:409 liver disease ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17058265 619755 Rac1 Rac family small GTPase 1 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:1605432 D RGD:155230819|PMID:21853342 20220921 RGD protein:increased expression:gallbladder (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605432 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:25056119|PMID:26619011 619755 Rac1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure IAGP D RGD:1581295|PMID:12642504 19990101 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 619755 Rac1 Rac family small GTPase 1 gene DOID:630 genetic disease ISO RGD:1605432 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619755 Rac1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 619755 Rac1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:153298967|PMID:33482578 20220802 RGD mRNA:increased expression:liver (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:153350129|PMID:20522449 20220908 RGD protein:increased expression:liver (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:8923 skin melanoma ISO RGD:1605432 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25056119|PMID:26619011 619755 Rac1 Rac family small GTPase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 619755 Rac1 Rac family small GTPase 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605432 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 619755 Rac1 Rac family small GTPase 1 gene DOID:9002371 Cardiotoxicity ISO RGD:1605432 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 619755 Rac1 Rac family small GTPase 1 gene DOID:9003936 Cardiomegaly ISO RGD:1553531 D RGD:1581293|PMID:16698001 19990101 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:9003936 Cardiomegaly ISO RGD:1553531 D RGD:1581294|PMID:16651530 19990101 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:9004484 Sepsis ISO RGD:1605432 D RGD:152998912|PMID:33174038 20220705 RGD mRNA:increased expression:blood serum (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1581295|PMID:12642504 19990101 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 619755 Rac1 Rac family small GTPase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741888|PMID:28886345 619755 Rac1 Rac family small GTPase 1 gene DOID:9008582 Developmental Disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 619755 Rac1 Rac family small GTPase 1 gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:28886345 619755 Rac1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1605432 D RGD:13432052|PMID:17597401 20170914 RGD 619755 Rac1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1605432 D RGD:152998911|PMID:29884911 20220705 RGD human cell line in a mouse model 619755 Rac1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605432 D RGD:13432050|PMID:24833563 20170914 RGD mRNA:alternative form 619755 Rac1 Rac family small GTPase 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1605432 D RGD:153350125|PMID:19506399 20220908 RGD protein:increased expression:nasopharynx (human) 619755 Rac1 Rac family small GTPase 1 gene DOID:9351 diabetes mellitus ISO RGD:1605432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 619756 Bbox1 gamma-butyrobetaine hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:732171 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619756 Bbox1 gamma-butyrobetaine hydroxylase 1 gene DOID:630 genetic disease ISO RGD:732171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619756 Bbox1 gamma-butyrobetaine hydroxylase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732171 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619757 Acox1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:7240710 20130221 OMIM 619757 Acox1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy PMID:11815777|PMID:16199547|PMID:16773508|PMID:17458872|PMID:17576681|PMID:18536048|PMID:24033266|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26965209|PMID:28492532|PMID:2894756|PMID:30561787|PMID:31130284|PMID:32169171|PMID:33510602|PMID:8040306|PMID:8279468|PMID:9536098 619757 Acox1 acyl-CoA oxidase 1 gene DOID:630 genetic disease ISO RGD:1344840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32169171 619757 Acox1 acyl-CoA oxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12771043|PMID:15565109 619757 Acox1 acyl-CoA oxidase 1 gene DOID:9002088 MITCHELL SYNDROME ISO RGD:1344840 D RGD:7240710 20201104 OMIM 619757 Acox1 acyl-CoA oxidase 1 gene DOID:9002088 MITCHELL SYNDROME ISO RGD:1344840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitchell syndrome PMID:25741868|PMID:28492532|PMID:32169171 619757 Acox1 acyl-CoA oxidase 1 gene DOID:9005532 Muscle Weakness ISO RGD:1344840 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 619757 Acox1 acyl-CoA oxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 619758 Grb2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732473 D RGD:13504750|PMID:28930697 20180122 RGD DNA:amplification, mutation 619758 Grb2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer treatment ISO RGD:732473 D RGD:13504751|PMID:17372910 20180122 RGD 619758 Grb2 growth factor receptor bound protein 2 gene DOID:1612 breast cancer treatment ISO RGD:732473 D RGD:13504751|PMID:17372910 20180122 RGD 619758 Grb2 growth factor receptor bound protein 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:732473 D RGD:11056009|PMID:26103942 20180122 RGD 619758 Grb2 growth factor receptor bound protein 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732473 D RGD:13441552|PMID:22459351 20171026 RGD Shc-Grb2 complex;protein:increased expression:serum (human) 619758 Grb2 growth factor receptor bound protein 2 gene DOID:630 genetic disease ISO RGD:732473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619759 Grb7 growth factor receptor bound protein 7 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:733273 D RGD:151347663|PMID:16849520 20220131 RGD mRNA:increased expression:stomach (human) 619759 Grb7 growth factor receptor bound protein 7 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:733273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 619759 Grb7 growth factor receptor bound protein 7 gene DOID:10534 stomach cancer ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:mucosa of stomach (human) PMID:17229543|REF_RGD_ID:151347657 619759 Grb7 growth factor receptor bound protein 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:733273 D RGD:151347660|PMID:8988034 20220131 RGD mRNA:increased expression:esophagus mucosa (human) 619759 Grb7 growth factor receptor bound protein 7 gene DOID:299 adenocarcinoma ISO RGD:733273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 619759 Grb7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:151347654|PMID:10797316 20220131 RGD protein:increased expression:esophagus (human) 619759 Grb7 growth factor receptor bound protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:733273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 619759 Grb7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma exacerbates ISO RGD:733273 D RGD:151347656|PMID:32737994 20220131 RGD human cells in a mouse model 619759 Grb7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:733273 D RGD:151347659|PMID:31809243 20220131 RGD 619759 Grb7 growth factor receptor bound protein 7 gene DOID:5517 stomach carcinoma ISO RGD:733273 D RGD:151347662|PMID:9125150 20220131 RGD mRNA:increased expression:stomach (human) 619759 Grb7 growth factor receptor bound protein 7 gene DOID:630 genetic disease ISO RGD:733273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619759 Grb7 growth factor receptor bound protein 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733273 D RGD:151347655|PMID:17634422 20220131 RGD protein:increased expression:liver (human) 619759 Grb7 growth factor receptor bound protein 7 gene DOID:9002189 High Myopia ISO RGD:733273 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 619759 Grb7 growth factor receptor bound protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 619759 Grb7 growth factor receptor bound protein 7 gene DOID:9005172 Lung Neoplasms ISO RGD:733273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 619759 Grb7 growth factor receptor bound protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:733273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17426702|PMID:19075277 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1345536 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:1824 status epilepticus IEP D RGD:11565113|PMID:20979657 20161121 RGD 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:2717 Bloom syndrome ISO RGD:1345536 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1345536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:9000998 Brain Injuries treatment IEP D RGD:11565089|PMID:24252176 20161118 RGD 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1345536 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:9004538 Hearing Loss ISO RGD:1345536 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hearing impairment 61976 Ckmt1 creatine kinase, mitochondrial 1 gene DOID:9256 colorectal cancer ISO RGD:1345536 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:0050439 Usher syndrome ISO RGD:733851 D RGD:8547536|PMID:20212494 20140217 RGD 619760 Cdh23 cadherin-related 23 gene DOID:0050439 Usher syndrome ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26681316|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32747562|PMID:32842620|PMID:32991204|PMID:34837038|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36633841|PMID:9536098 619760 Cdh23 cadherin-related 23 gene DOID:0050563 nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15660226|PMID:16679490|PMID:17850630|PMID:18429043|PMID:19683999|PMID:21078986|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24618850|PMID:24767429|PMID:25279224|PMID:25474345|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26467025|PMID:26763877|PMID:27460420|PMID:27583405|PMID:27792758|PMID:28492532|PMID:29343940|PMID:30029624|PMID:30311386|PMID:30367262|PMID:30718709|PMID:32467589|PMID:32860223 619760 Cdh23 cadherin-related 23 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:16199547|PMID:16679490|PMID:17407589|PMID:18429043|PMID:19683999|PMID:20513143|PMID:20613545|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22899989|PMID:23804846|PMID:24033266|PMID:24498627|PMID:25404053|PMID:25741868|PMID:25963016|PMID:26763877|PMID:27573290|PMID:28492532|PMID:29148562|PMID:30303587|PMID:31445392|PMID:32645618|PMID:32842620|PMID:8894709 619760 Cdh23 cadherin-related 23 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:733851 D RGD:8662281|PMID:17850630 20140618 RGD DNA:missense mutations:multiple 619760 Cdh23 cadherin-related 23 gene DOID:0080046 Stickler syndrome ISO RGD:733851 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 619760 Cdh23 cadherin-related 23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:7240710 20130221 OMIM 619760 Cdh23 cadherin-related 23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31850270|PMID:32238869|PMID:32467589|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:34906502|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36633841|PMID:9536098 619760 Cdh23 cadherin-related 23 gene DOID:0110826 Usher syndrome type 1 ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25211151|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32991204|PMID:33316915|PMID:33924653|PMID:34837038|PMID:35020051|PMID:35186827|PMID:9536098 619760 Cdh23 cadherin-related 23 gene DOID:0110827 Usher syndrome type 2 ISO RGD:733851 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 619760 Cdh23 cadherin-related 23 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:12075507|PMID:16963483|PMID:18429043|PMID:19683999|PMID:21174530|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27018795|PMID:28492532|PMID:30029624|PMID:30718709 619760 Cdh23 cadherin-related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:7240710 20130221 OMIM 619760 Cdh23 cadherin-related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27610647|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30774966|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:31541171|PMID:31546658|PMID:32467589|PMID:32747562|PMID:32991204|PMID:34906502|PMID:35020051|PMID:35186827|PMID:9536098 619760 Cdh23 cadherin-related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733852 D RGD:8662279|PMID:11138008 20140618 RGD 619760 Cdh23 cadherin-related 23 gene DOID:0110838 Usher syndrome type 2A ISO RGD:733851 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:12075507|PMID:12522556|PMID:15353998|PMID:21940737|PMID:24033266|PMID:25741868|PMID:2706105|PMID:27460420|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:733851 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:25741868|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:0111330 combined saposin deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:7240710 20190315 OMIM 619760 Cdh23 cadherin-related 23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25279224|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27068579|PMID:27349180|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:29148562|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:31054281|PMID:31152317|PMID:31541171|PMID:32467589|PMID:32991204|PMID:35020051|PMID:35186827|PMID:9536098 619760 Cdh23 cadherin-related 23 gene DOID:10003 sensorineural hearing loss ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:22899989|PMID:25741868|PMID:25963016|PMID:26763877|PMID:28492532|PMID:30303587 619760 Cdh23 cadherin-related 23 gene DOID:10316 pneumoconiosis ISO RGD:733851 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 619760 Cdh23 cadherin-related 23 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:10584 retinitis pigmentosa ISO RGD:733851 D RGD:8547536|PMID:20212494 20140217 RGD 619760 Cdh23 cadherin-related 23 gene DOID:10584 retinitis pigmentosa ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:24416283|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 619760 Cdh23 cadherin-related 23 gene DOID:10587 Krabbe disease ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:3633 beta-mannosidosis ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:25741868|PMID:28492532|PMID:30311386 619760 Cdh23 cadherin-related 23 gene DOID:5679 retinal disease ISO RGD:733852 D RGD:8662280|PMID:14609561 20140618 RGD 619760 Cdh23 cadherin-related 23 gene DOID:630 genetic disease ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:12075507|PMID:16281288|PMID:17850630|PMID:18273900|PMID:18368581|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:24416283|PMID:25356970|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27349180|PMID:27743452|PMID:28492532|PMID:28501645|PMID:29986705|PMID:30311386|PMID:32747562|PMID:32991204|PMID:34837038|PMID:35186827 619760 Cdh23 cadherin-related 23 gene DOID:8501 fundus dystrophy ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138009|PMID:12075507|PMID:16199547|PMID:18273900|PMID:18429043|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:25211151|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27208204|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31546658|PMID:32141364|PMID:32991204|PMID:35020051|PMID:35186827 619760 Cdh23 cadherin-related 23 gene DOID:9000307 Presbycusis ISO RGD:733852 D RGD:737781|PMID:12910270 19990101 RGD 619760 Cdh23 cadherin-related 23 gene DOID:9000307 Presbycusis no_association ISO RGD:733851 D RGD:8662287|PMID:22581638 20140618 RGD DNA:SNP:intron:g.72996763C>T (rs7087735) (human) 619760 Cdh23 cadherin-related 23 gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:733851 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency PMID:25741868|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:733851 D RGD:8662283|PMID:16598924 20140618 RGD DNA:SNPs: :rs1227049, rs3802711 (human) 619760 Cdh23 cadherin-related 23 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:733851 D RGD:8662283|PMID:16598924 20140618 RGD DNA:SNPs: :rs1227049, rs1227051 (human) 619760 Cdh23 cadherin-related 23 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32645618|PMID:32991204|PMID:34837038|PMID:35020051|PMID:35186827|PMID:9536098 619760 Cdh23 cadherin-related 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733851 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:12075507|PMID:16963483|PMID:19683999|PMID:21174530|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27018795|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386 619760 Cdh23 cadherin-related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386 619760 Cdh23 cadherin-related 23 gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:733851 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:25741868|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:21940737|PMID:24033266|PMID:25741868|PMID:28492532 619760 Cdh23 cadherin-related 23 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733851 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 619760 Cdh23 cadherin-related 23 gene DOID:9008681 Deafness ISO RGD:733851 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 619760 Cdh23 cadherin-related 23 gene DOID:9849 Meniere's disease ISO RGD:733851 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:734270 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17559352 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734270 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12214664|PMID:16601883 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:7240710 20130221 OMIM 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trimethylaminuria PMID:10338091|PMID:10479479|PMID:10898113|PMID:11136294|PMID:11191884|PMID:11266081|PMID:12228178|PMID:12527699|PMID:12678693|PMID:12814961|PMID:12893987|PMID:12938085|PMID:15203093|PMID:15618671|PMID:16296944|PMID:16600650|PMID:16601883|PMID:17096187|PMID:17224546|PMID:17329912|PMID:17531949|PMID:18028028|PMID:18423897|PMID:19321370|PMID:19577495|PMID:20301282|PMID:21422137|PMID:21451776|PMID:22819296|PMID:23567996|PMID:23791655|PMID:25741868|PMID:25870212|PMID:27118741|PMID:28196478|PMID:28392825|PMID:28492532|PMID:28649550|PMID:28743400|PMID:29555771|PMID:31180159|PMID:31240165|PMID:31589614|PMID:31980526|PMID:33831674|PMID:8401051|PMID:9282831|PMID:9398858|PMID:9536088|PMID:987532 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension ISO RGD:734270 D RGD:1626461|PMID:9536088 20070809 RGD associated with trimethylaminuria, OMIM:602079 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension no_association ISO RGD:734270 D RGD:1626466|PMID:16324215 20070809 RGD 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734270 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:630 genetic disease ISO RGD:734270 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:655 inherited metabolic disorder ISO RGD:734270 D RGD:1626461|PMID:9536088 20070809 RGD trimethylaminuria, OMIM:602079 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734270 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24973094 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:734270 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 619761 Fmo3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734270 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:0070297 primary microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1343833 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:10907 microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1343833 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1343833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:9001341 Chloracne ISO RGD:1343833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 619762 Rab11a RAB11a, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1343833 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619764 Rab3il1 RAB3A interacting protein-like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 619764 Rab3il1 RAB3A interacting protein-like 1 gene DOID:1059 intellectual disability ISO RGD:1354248 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619764 Rab3il1 RAB3A interacting protein-like 1 gene DOID:630 genetic disease ISO RGD:1354248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619765 Xylt2 xylosyltransferase 2 gene DOID:0080322 polycystic kidney disease ISS RGD:731565 D RGD:13592920 20191003 MouseDO 619765 Xylt2 xylosyltransferase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:731564 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16571645|PMID:25741868|PMID:28492532 619765 Xylt2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16571645 619765 Xylt2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:7240710 20130221 OMIM 619765 Xylt2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:25741868|PMID:28492532 619765 Xylt2 xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:731564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26027496|PMID:26987875|PMID:28492532 619765 Xylt2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:7240710 20221109 OMIM 619765 Xylt2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive PMID:16571645|PMID:25741868|PMID:26027496|PMID:28492532|PMID:30496831 619766 Cdc123 cell division cycle 123 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733862 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 619766 Cdc123 cell division cycle 123 gene DOID:630 genetic disease ISO RGD:733862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619767 Pou3f1 POU class 3 homeobox 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:730819 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 619767 Pou3f1 POU class 3 homeobox 1 gene DOID:630 genetic disease ISO RGD:730819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619767 Pou3f1 POU class 3 homeobox 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730819 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:1059 intellectual disability ISO RGD:1349087 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31303265 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:630 genetic disease ISO RGD:1349087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1565620|PMID:2044958|PMID:31303265 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:8398 osteoarthritis ISO RGD:1349087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:9004310 Snijders Blok-Fisher Syndrome ISO RGD:1349087 D RGD:7240710 20191127 OMIM 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:9004310 Snijders Blok-Fisher Syndrome ISO RGD:1349087 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Snijders blok-fisher syndrome PMID:25741868|PMID:30712878|PMID:31303265 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349087 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 619768 Pou3f3 POU class 3 homeobox 3 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:1349087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25741868 619769 Fmod fibromodulin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 619769 Fmod fibromodulin gene DOID:1540 parathyroid carcinoma ISO RGD:1353289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619769 Fmod fibromodulin gene DOID:3087 gingivitis ISO RGD:1353289 D RGD:2315079|PMID:15196146 20091217 RGD protein:increased expression:gingiva 619769 Fmod fibromodulin gene DOID:630 genetic disease ISO RGD:1353289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619769 Fmod fibromodulin gene DOID:824 periodontitis ISO RGD:1353289 D RGD:2315079|PMID:15196146 20091217 RGD protein:increased expression:gingiva 619769 Fmod fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353289 D RGD:2311416|PMID:11259366 20100115 RGD mRNA,protein:increased expression:Kidney Glomerulus 619769 Fmod fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:733886 D RGD:2311412|PMID:16868749 20100115 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex 619769 Fmod fibromodulin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 619769 Fmod fibromodulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353289 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619769 Fmod fibromodulin gene DOID:971 tendinitis IEP D RGD:2315073|PMID:19955224 20091216 RGD 61977 Ckmt2 creatine kinase, mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1343148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61977 Ckmt2 creatine kinase, mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343148 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:12849 autistic disorder ISO RGD:1605711 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:1826 epilepsy ISO RGD:1605711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:5419 schizophrenia ISO RGD:1605711 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:630 genetic disease ISO RGD:1605711 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:8445 intestinal volvulus ISO RGD:1605711 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1605711 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 619770 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605711 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 619771 Cuzd1 CUB and zona pellucida-like domains 1 gene DOID:2340 craniosynostosis ISO RGD:1353922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 619771 Cuzd1 CUB and zona pellucida-like domains 1 gene DOID:630 genetic disease ISO RGD:1353922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619772 Epn1 Epsin 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:13461853|PMID:19240038 20171129 RGD protein:increased degradation:brain 619772 Epn1 Epsin 1 gene DOID:630 genetic disease ISO RGD:1342807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619773 Epn2 epsin 2 gene DOID:0050777 Joubert syndrome ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 619773 Epn2 epsin 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1351510 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 619773 Epn2 epsin 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 619773 Epn2 epsin 2 gene DOID:12849 autistic disorder ISO RGD:1351510 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619773 Epn2 epsin 2 gene DOID:630 genetic disease ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619773 Epn2 epsin 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 619774 Wif1 Wnt inhibitory factor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731989 D RGD:727214|PMID:14517837 20080402 RGD protein:decreased expression:lung 619774 Wif1 Wnt inhibitory factor 1 gene DOID:10283 prostate cancer ISO RGD:731989 D RGD:727214|PMID:14517837 20080402 RGD mRNA, protein:decreased expression:prostate gland 619774 Wif1 Wnt inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:2291868|PMID:18325051 20080401 RGD DNA:hypermethylation:promoter 619774 Wif1 Wnt inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:727214|PMID:14517837 20080402 RGD protein:decreased expression:urinary bladder 619774 Wif1 Wnt inhibitory factor 1 gene DOID:1612 breast cancer ISO RGD:731989 D RGD:2291871|PMID:16501252 20080402 RGD DNA:hypermethylation:promoter 619774 Wif1 Wnt inhibitory factor 1 gene DOID:2154 nephroblastoma ISO RGD:731989 D RGD:2291870|PMID:16575872 20080402 RGD mRNA:increased expression:kidney 619774 Wif1 Wnt inhibitory factor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1552191 D RGD:1643593|PMID:16488995 20080402 RGD mRNA:increased expression:ovary 619774 Wif1 Wnt inhibitory factor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731989 D RGD:727214|PMID:14517837 20080402 RGD protein:decreased expression:breast 619774 Wif1 Wnt inhibitory factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:731989 D RGD:2291869|PMID:17145819 20080401 RGD DNA:hypermethylation:promoter 619774 Wif1 Wnt inhibitory factor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731989 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 619774 Wif1 Wnt inhibitory factor 1 gene DOID:630 genetic disease ISO RGD:731989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619774 Wif1 Wnt inhibitory factor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 619774 Wif1 Wnt inhibitory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 619774 Wif1 Wnt inhibitory factor 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:731989 D RGD:2298535|PMID:16436637 20080708 RGD mRNA:increased expression:ovary 619774 Wif1 Wnt inhibitory factor 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:731989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 619774 Wif1 Wnt inhibitory factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 619775 Prh1 proline rich protein HaeIII subfamily 1 gene DOID:10283 prostate cancer ISO RGD:1343411 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619775 Prh1 proline rich protein HaeIII subfamily 1 gene DOID:630 genetic disease ISO RGD:1343411 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735560 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:37 skin disease ISO RGD:735560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:3978 extrinsic cardiomyopathy ISS RGD:735561 D RGD:13592920 20180518 MouseDO 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:5419 schizophrenia ISO RGD:735560 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:630 genetic disease ISO RGD:735560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:735561 D RGD:41410778|PMID:31167111 20210212 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung (mouse) 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:735560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 619776 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9970 obesity ISO RGD:735560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 619777 L1cam L1 cell adhesion molecule gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619777 L1cam L1 cell adhesion molecule gene DOID:0050476 Barth syndrome ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619777 L1cam L1 cell adhesion molecule gene DOID:0050753 cerebellar ataxia ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 619777 L1cam L1 cell adhesion molecule gene DOID:0050771 pheochromocytoma ISO RGD:1352608 D RGD:11570409|PMID:20937862 20161214 RGD mRNA,protein:increased expression:adrenal medulla: 619777 L1cam L1 cell adhesion molecule gene DOID:0050800 creatine transporter deficiency ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 619777 L1cam L1 cell adhesion molecule gene DOID:0060046 aphasia ISO RGD:1352608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 619777 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:11064095|PMID:9643285 20161214 RGD DNA:mutation:cds:924C>T(human) 619777 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7920659|PMID:7920660 619777 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:11570406|PMID:8786080 20161214 RGD DNA:deletion:exon: 619777 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:6483061|PMID:7920660 20120511 RGD DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human) 619777 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:7240710 20130221 OMIM 619777 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:10469653|PMID:10767310|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:11857550|PMID:12442287|PMID:12725590|PMID:1303258|PMID:13889294|PMID:15108295|PMID:15148591|PMID:15555929|PMID:16199547|PMID:16650080|PMID:17576681|PMID:18136715|PMID:1870106|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20621658|PMID:21271669|PMID:21688291|PMID:22973895|PMID:23820807|PMID:24155914|PMID:25644381|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30249681|PMID:30712878|PMID:31069529|PMID:31319225|PMID:31474318|PMID:31504653|PMID:31680349|PMID:32416898|PMID:32488064|PMID:3460961|PMID:7493978|PMID:7562969|PMID:7762552|PMID:7881431|PMID:7920659|PMID:7920660|PMID:8062435|PMID:8401576|PMID:8401593|PMID:8826452|PMID:8929944|PMID:9195224|PMID:9279760|PMID:9300653|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9643285|PMID:9744477 619777 L1cam L1 cell adhesion molecule gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 619777 L1cam L1 cell adhesion molecule gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16650080|PMID:25741868|PMID:31474318|PMID:7562969|PMID:8929944 619777 L1cam L1 cell adhesion molecule gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 619777 L1cam L1 cell adhesion molecule gene DOID:0112003 immunodeficiency 33 ISO RGD:1352608 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 619777 L1cam L1 cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:10850 D RGD:6483043|PMID:21395909 20120511 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1352608 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 619777 L1cam L1 cell adhesion molecule gene DOID:10588 adrenoleukodystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619777 L1cam L1 cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1352608 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619777 L1cam L1 cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1352608 D RGD:6483456|PMID:16298234 20120522 RGD protein:increased expression:cerebrospinal fluid (human) 619777 L1cam L1 cell adhesion molecule gene DOID:10908 hydrocephalus ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus | ClinVar Annotator: match by term: X-linked hydrocephalus PMID:16650080|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31680349|PMID:7562969|PMID:7881431|PMID:8929944|PMID:9300653 619777 L1cam L1 cell adhesion molecule gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 619777 L1cam L1 cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:10850 D RGD:11570405|PMID:26079769 20161214 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:1352608 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619777 L1cam L1 cell adhesion molecule gene DOID:12858 Huntington's disease ISO RGD:10850 D RGD:6483035|PMID:17093074 20120510 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:13628 favism ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 619777 L1cam L1 cell adhesion molecule gene DOID:14330 Parkinson's disease ISO RGD:10850 D RGD:6483033|PMID:19995872 20120510 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:1459 hypothyroidism IEP D RGD:11570514|PMID:11085884 20161216 RGD mRNA,protein:increased expression: cerebral cortex: 619777 L1cam L1 cell adhesion molecule gene DOID:1596 depressive disorder IEP D RGD:6483073|PMID:20018220 20120514 RGD mRNA:decreased expression:hippocampus (rat) 619777 L1cam L1 cell adhesion molecule gene DOID:1793 pancreatic cancer treatment ISO RGD:1352608 D RGD:11570404|PMID:22095073 20161214 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:2030 anxiety disorder IEP D RGD:6483075|PMID:19746433 20120514 RGD protein:increased expression: brain, multiple (rat) 619777 L1cam L1 cell adhesion molecule gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10797421|PMID:11438988|PMID:11772994|PMID:16760466|PMID:18414213|PMID:19846429|PMID:22222883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30487145|PMID:9195224|PMID:9268105 619777 L1cam L1 cell adhesion molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 619777 L1cam L1 cell adhesion molecule gene DOID:3068 glioblastoma ISO RGD:1352608 D RGD:6483067|PMID:20419098 20120511 RGD mRNA:decreased expression:brain, temporal lobe (human) 619777 L1cam L1 cell adhesion molecule gene DOID:3312 bipolar disorder ISO RGD:1352608 D RGD:6483084|PMID:18430502 20120514 RGD associated with Depressive Disorder; mRNA:increased expression:blood (human) 619777 L1cam L1 cell adhesion molecule gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1352608 D RGD:6483447|PMID:20162456 20120522 RGD protein:increased expression:pancreas (human) 619777 L1cam L1 cell adhesion molecule gene DOID:363 uterine cancer severity ISO RGD:1352608 D RGD:6483445|PMID:13678974 20120522 RGD protein:increased expression:uterus, serum (human) 619777 L1cam L1 cell adhesion molecule gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352608 D RGD:11570503|PMID:22307136 20161215 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma ISO RGD:1352608 D RGD:6483449|PMID:16424028 20120522 RGD human cells, mouse model 619777 L1cam L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma severity ISO RGD:1352608 D RGD:6483445|PMID:13678974 20120522 RGD protein:increased expression:ovary, serum (human) 619777 L1cam L1 cell adhesion molecule gene DOID:4450 renal cell carcinoma ISO RGD:1352608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21097529 619777 L1cam L1 cell adhesion molecule gene DOID:5419 schizophrenia susceptibility ISO RGD:1352608 D RGD:11570408|PMID:11425011 20161214 RGD associated with male;DNA:mutation:intron:13504 C > T(human) 619777 L1cam L1 cell adhesion molecule gene DOID:607 paraplegia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10469653|PMID:10480214|PMID:10632110|PMID:10767310|PMID:10797421|PMID:11438988|PMID:11748843|PMID:11772994|PMID:11968085|PMID:12442287|PMID:12514225|PMID:12725590|PMID:15108295|PMID:15148591|PMID:15555929|PMID:15904436|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16760466|PMID:17576681|PMID:18414213|PMID:19396829|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20730588|PMID:21688291|PMID:22222883|PMID:22281021|PMID:22382802|PMID:22973895|PMID:23184456|PMID:23409742|PMID:23660394|PMID:23820807|PMID:24155914|PMID:24365856|PMID:24962355|PMID:25666757|PMID:25741868|PMID:25948108|PMID:26467025|PMID:26471271|PMID:26891472|PMID:28492532|PMID:28781826|PMID:29334594|PMID:29706646|PMID:29960101|PMID:30365056|PMID:30487145|PMID:30712878|PMID:31504653|PMID:32416898|PMID:33196764|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8062435|PMID:8069317|PMID:8401576|PMID:8826452|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9384614|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9744477 619777 L1cam L1 cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10469653|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:13889294|PMID:15555929|PMID:16760466|PMID:17328266|PMID:18136715|PMID:18414213|PMID:19617634|PMID:19846429|PMID:20621658|PMID:21688291|PMID:22222883|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30487145|PMID:31680349|PMID:32416898|PMID:7762552|PMID:7881431|PMID:7920659|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9721721 619777 L1cam L1 cell adhesion molecule gene DOID:9000115 Posthemorrhagic Hydrocephalus ISO RGD:1352608 D RGD:6483013|PMID:22186713 20120509 RGD protein:increased expression:cerebrospinal fluid (human) 619777 L1cam L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:11570404|PMID:22095073 20161214 RGD associated with Pancreatic Neoplasms; 619777 L1cam L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:11570503|PMID:22307136 20161215 RGD associated with Lung Neoplasms; 619777 L1cam L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries IDA D RGD:6483092|PMID:17640175 20120515 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10850 D RGD:6483044|PMID:21376041 20120511 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:9001553 Spinal Cord Compression ISO RGD:10850 D RGD:6483029|PMID:21671795 20120510 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:9002720 Splenomegaly ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 619777 L1cam L1 cell adhesion molecule gene DOID:9004795 Congenital Hand Deformities ISO RGD:1352608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 619777 L1cam L1 cell adhesion molecule gene DOID:9005824 X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction PMID:12650797|PMID:15368500 619777 L1cam L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:7240710 20130221 OMIM 619777 L1cam L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked PMID:10469653|PMID:11772994|PMID:15368500|PMID:15555929|PMID:16650080|PMID:19617634|PMID:19846429|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:28492532|PMID:29706646|PMID:31069529|PMID:31474318|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8929944|PMID:9300653 619777 L1cam L1 cell adhesion molecule gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 619777 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus IMP D RGD:14695001|PMID:30738385 20190725 RGD 619777 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:10850 D RGD:6483078|PMID:19565280 20120514 RGD C57BL/6J background 619777 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7920659|PMID:7920660 619777 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:6483012|PMID:7920659 20120509 RGD DNA:snps:cds:multiple (human) 619777 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:7240710 20130221 OMIM 619777 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis PMID:10469653|PMID:10767310|PMID:11772994|PMID:16650080|PMID:18414213|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31504653|PMID:32416898|PMID:7562969|PMID:7920659|PMID:8929944 619777 L1cam L1 cell adhesion molecule gene DOID:9008086 Developmental Disabilities ISO RGD:1352608 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 619777 L1cam L1 cell adhesion molecule gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:25741868 619777 L1cam L1 cell adhesion molecule gene DOID:9256 colorectal cancer severity ISO RGD:1352608 D RGD:6483011|PMID:17873897 20120509 RGD protein:increased expression:colon (human) 619778 Nav2 neuron navigator 2 gene DOID:0060224 atrial fibrillation ISO RGD:1320655 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 619778 Nav2 neuron navigator 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1320655 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 619778 Nav2 neuron navigator 2 gene DOID:1059 intellectual disability ISO RGD:1320655 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619778 Nav2 neuron navigator 2 gene DOID:630 genetic disease ISO RGD:1320655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 619779 Ahnak AHNAK nucleoprotein gene DOID:0080600 COVID-19 ISO RGD:1345625 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 619779 Ahnak AHNAK nucleoprotein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 619779 Ahnak AHNAK nucleoprotein gene DOID:10487 Hirschsprung's disease ISO RGD:1345625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 619779 Ahnak AHNAK nucleoprotein gene DOID:1059 intellectual disability ISO RGD:1345625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619779 Ahnak AHNAK nucleoprotein gene DOID:11372 megacolon ISO RGD:1345625 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 619779 Ahnak AHNAK nucleoprotein gene DOID:417 autoimmune disease IDA D RGD:625427|PMID:11866458 19990101 RGD 619779 Ahnak AHNAK nucleoprotein gene DOID:4450 renal cell carcinoma ISO RGD:1345625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 619779 Ahnak AHNAK nucleoprotein gene DOID:630 genetic disease ISO RGD:1345625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619779 Ahnak AHNAK nucleoprotein gene DOID:9001341 Chloracne ISO RGD:1345625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 619779 Ahnak AHNAK nucleoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619779 Ahnak AHNAK nucleoprotein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345625 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 61978 Klrg1 killer cell lectin like receptor G1 gene DOID:0080600 COVID-19 ISO RGD:737284 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61978 Klrg1 killer cell lectin like receptor G1 gene DOID:10652 Alzheimer's disease ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 61978 Klrg1 killer cell lectin like receptor G1 gene DOID:11372 megacolon ISO RGD:737284 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 61978 Klrg1 killer cell lectin like receptor G1 gene DOID:630 genetic disease ISO RGD:737284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61978 Klrg1 killer cell lectin like receptor G1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737284 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 619780 Sez6 seizure related 6 homolog gene DOID:630 genetic disease ISO RGD:1320435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619780 Sez6 seizure related 6 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619780 Sez6 seizure related 6 homolog gene DOID:9007491 Childhood Schizophrenia ISO RGD:1320435 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 619781 Erp29 endoplasmic reticulum protein 29 gene DOID:3910 lung adenocarcinoma ISO RGD:735473 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 619781 Erp29 endoplasmic reticulum protein 29 gene DOID:630 genetic disease ISO RGD:735473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619781 Erp29 endoplasmic reticulum protein 29 gene DOID:684 hepatocellular carcinoma ISO RGD:735473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 619781 Erp29 endoplasmic reticulum protein 29 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 619781 Erp29 endoplasmic reticulum protein 29 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 619782 Mcf2l MCF.2 cell line derived transforming sequence-like gene DOID:2222 factor X deficiency ISO RGD:737008 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 619782 Mcf2l MCF.2 cell line derived transforming sequence-like gene DOID:630 genetic disease ISO RGD:737008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:10283 prostate cancer ISO RGD:734058 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:10534 stomach cancer severity ISO RGD:734058 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:630 genetic disease ISO RGD:734058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2301838|PMID:18184923 20081104 RGD mRNA:decreased expression:kidney, liver 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:9002211 Hyperalgesia IMP D RGD:7247605|PMID:19439599 20130718 RGD associated with Inflammation 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:9003936 Cardiomegaly ISO RGD:734058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17174323 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2301838|PMID:18184923 20081104 RGD mRNA:decreased expression:kidney, liver 619783 Trpc1 transient receptor potential cation channel, subfamily C, member 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7247596|PMID:20337661 20130718 RGD protein:increased expression:artery smooth muscle 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1346195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34102099 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:7240710 20211215 OMIM 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant PMID:25741868|PMID:34102099 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:7240710 20211215 OMIM 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive PMID:34102099 619785 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346195 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619786 Ptp4a2 protein tyrosine phosphatase 4A2 gene DOID:630 genetic disease ISO RGD:734245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619786 Ptp4a2 protein tyrosine phosphatase 4A2 gene DOID:9775 diastolic heart failure ISO RGD:734245 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733334 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733334 D RGD:10044019|PMID:16950785 20150601 RGD mRNA,protein:increased expression:heart: 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:1059 intellectual disability ISO RGD:733334 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:10763 hypertension ISO RGD:733334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:12849 autistic disorder ISO RGD:733334 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:5419 schizophrenia ISO RGD:733334 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:630 genetic disease ISO RGD:733334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619787 Trpc5 transient receptor potential cation channel, subfamily C, member 5 gene DOID:9001542 Albuminuria ISO RGD:733335 D RGD:10043830|PMID:24231357 20150529 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:19380626|PMID:25741868 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347433 D RGD:7247446|PMID:21511817 20130716 RGD DNA:missense mutations, SNPs:exon, intron:multiple 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:7240710 20131030 OMIM 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 PMID:10200986|PMID:15879175|PMID:15924139|PMID:16932363|PMID:19129465|PMID:19380626|PMID:19458060|PMID:19936226|PMID:21734084|PMID:22732337|PMID:22980509|PMID:2298509|PMID:23291369|PMID:23645677|PMID:25019165|PMID:25741868|PMID:26127002|PMID:26467025|PMID:26892346|PMID:27573339|PMID:28117080|PMID:28166811|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33532864|PMID:33884742 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1059 intellectual disability ISO RGD:1347433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1184 nephrotic syndrome ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15924139|PMID:19129465|PMID:21734084|PMID:23645677|PMID:25741868|PMID:26467025|PMID:26892346|PMID:28117080|PMID:28204945|PMID:28492532|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33884742 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:12704 ataxia telangiectasia ISO RGD:1347433 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26892346 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:7247580|PMID:15924139 20130717 RGD DNA:nonsense mutation, missense mutations: :multiple 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:7247581|PMID:15879175 20130717 RGD DNA:missense mutation:exon:p.P112Q (human) 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19936226|PMID:22980509|PMID:25019165|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment IDA D RGD:7247440|PMID:23385000 20130716 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment IDA D RGD:7247445|PMID:21839714 20130716 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:1347433 D RGD:7247444|PMID:22980509 20130716 RGD DNA:SNP:exon:p.P15S (human) 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:150 disease of mental health ISO RGD:1347433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21059368 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:224 transient cerebral ischemia ISO RGD:732721 D RGD:7247583|PMID:23043486 20130717 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7247582|PMID:23435869 20130717 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7247585|PMID:20811149 20130717 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:557 kidney disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:557 kidney disease treatment IDA D RGD:7247439|PMID:23535151 20130716 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:576 proteinuria IEP D RGD:155882534|PMID:31784544 20230126 RGD mRNA:increased expression:glomerular podocytes (rat) 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:576 proteinuria ISO RGD:732721 D RGD:7247440|PMID:23385000 20130716 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:630 genetic disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1347433 D RGD:1580490|PMID:15358862 19990101 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:8544 chronic fatigue syndrome ISO RGD:1347433 D RGD:40886272|PMID:27834303 20201203 RGD DNA:SNPs: : 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9000040 Hypertrophy ISO RGD:1347433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20177073 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:1347433 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9001542 Albuminuria IEP D RGD:7247603|PMID:19887786 20130718 RGD associated with Hypertension;mRNA:decreased expression:kidney cortex 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9001542 Albuminuria ISO RGD:732721 D RGD:7247445|PMID:21839714 20130716 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9002165 Diabetic Nephropathies induces IAGP XCO:0000245,XCO:0000241 D RGD:149735534|PMID:29923767 20210729 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:7247584|PMID:22673147 20130717 RGD associated with Diabetes Mellitus, Experimental 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9002174 Disease Susceptibility ISO RGD:1347433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9002211 Hyperalgesia IMP D RGD:7247605|PMID:19439599 20130718 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:155882534|PMID:31784544 20230126 RGD mRNA:increased expression:glomerular podocytes (rat) 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9003936 Cardiomegaly ISO RGD:732721 D RGD:7247443|PMID:23212367 20130716 RGD mRNA:increased expression:heart 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:4891135|PMID:20554625 20130717 RGD 619788 Trpc6 transient receptor potential cation channel, subfamily C, member 6 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7247596|PMID:20337661 20130718 RGD protein:increased expression:artery smooth muscle 619789 Clasp2 cytoplasmic linker associated protein 2 gene DOID:630 genetic disease ISO RGD:733933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:7240710 20131106 OMIM 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 PMID:15732118|PMID:23001565|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33355653 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:0080600 COVID-19 ISO RGD:1343628 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:10283 prostate cancer ISO RGD:1343628 D RGD:153297816|PMID:24589652 20220728 RGD protein:increased expression:prostate (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer ISO RGD:1343628 D RGD:153297816|PMID:24589652 20220728 RGD protein:increased expression:stomach (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343628 D RGD:153298969|PMID:19360331 20220802 RGD human cells in mouse model 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343628 D RGD:10401652|PMID:1331687 20151006 RGD protein:hyperphosphorylation:brain: 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:13938 amenorrhea ISO RGD:1343628 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:1686 glaucoma ISO RGD:1343628 D RGD:10401222|PMID:20107165 20151002 RGD associated with Exfoliation Syndrome; 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:1996 rectum adenocarcinoma ISO RGD:1343628 D RGD:153298969|PMID:19360331 20220802 RGD protein:increased expression:rectum (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:234 colon adenocarcinoma ISO RGD:1343628 D RGD:153298969|PMID:19360331 20220802 RGD protein:increased expression:colon(human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:299 adenocarcinoma ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:3073 brain glioblastoma multiforme ISO RGD:1343628 D RGD:153297816|PMID:24589652 20220728 RGD protein:increased expression:brain (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:27542262|REF_RGD_ID:153298910 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1343628 D RGD:153298905|PMID:24377563 20220728 RGD protein:increased expression:blood serum (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1343628 D RGD:153298904|PMID:21554491 20220728 RGD protein:increased expression:lung (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343628 D RGD:153297816|PMID:24589652 20220728 RGD protein:increased expression:lung (human) 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression, increased phosphorylation:liver (human) PMID:28060762|REF_RGD_ID:153298915 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:8398 osteoarthritis ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9002801 Recurrence ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:10401223|PMID:15211596 20151002 RGD protein:hypophosphorylation:cortex, hippocampus: 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10401649|PMID:7513958 20151006 RGD protein:decreased expression:cardiac muscle: 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9007980 Sleep Deprivation IEP D RGD:10401259|PMID:22917528 20151005 RGD protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 61979 Eef2 eukaryotic translation elongation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1343628 D RGD:153297816|PMID:24589652 20220728 RGD protein:increased expression:colon (human) 619790 Rag1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:7240710 20130221 OMIM 619790 Rag1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19011808|PMID:19178939|PMID:20109747|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:0080915 histiocytic sarcoma ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10606976|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19830075|PMID:20109747|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28109013|PMID:28492532|PMID:28769923|PMID:28783691|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31980526|PMID:32447396|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:7240710 20130221 OMIM 619790 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11133745|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:18701881|PMID:19178939|PMID:19458910|PMID:19912631|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19912631|PMID:20109747|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:7240710 20130221 OMIM 619790 Rag1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24817258|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:26829731|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:28864286|PMID:290284|PMID:29104089|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31130284|PMID:31313695|PMID:31503426|PMID:31980526|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33117328|PMID:33193364|PMID:33365035|PMID:33628209|PMID:33954879|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:1059 intellectual disability ISO RGD:1317876 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619790 Rag1 recombination activating 1 gene DOID:10763 hypertension IMP D RGD:7207429|PMID:23364523 20170331 RGD 619790 Rag1 recombination activating 1 gene DOID:10907 microcephaly ISO RGD:1317876 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 619790 Rag1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:17572155|PMID:17890453|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30778343|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17572155|PMID:25741868|PMID:28109013|PMID:28492532|PMID:30290665|PMID:30858051|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:627 severe combined immunodeficiency IMP D RGD:7204131|PMID:23136839 20170331 RGD 619790 Rag1 recombination activating 1 gene DOID:627 severe combined immunodeficiency IMP D RGD:7204134|PMID:23150522 20201210 RGD 619790 Rag1 recombination activating 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1317876 D RGD:1599402|PMID:8810255 20070201 RGD 619790 Rag1 recombination activating 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1317876 D RGD:1599403|PMID:9630231 20070201 RGD Omenn syndrome, OMIM:179615 619790 Rag1 recombination activating 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:16276422|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18463379|PMID:18768869|PMID:18822103|PMID:19178939|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27484032|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31980526|PMID:32445296|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:630 genetic disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619790 Rag1 recombination activating 1 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1317876 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:24033266|PMID:25741868|PMID:28492532 619790 Rag1 recombination activating 1 gene DOID:9001542 Albuminuria IMP D RGD:7207429|PMID:23364523 20201210 RGD 619790 Rag1 recombination activating 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317876 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 619790 Rag1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy IMP D RGD:7207429|PMID:23364523 20170417 RGD 619790 Rag1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ameliorates IMP D RGD:7207429|PMID:23364523 20210211 RGD 619790 Rag1 recombination activating 1 gene DOID:9004654 Immune Deficiency Disease IMP D RGD:13628403|PMID:29688994 20180620 RGD 619790 Rag1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:7240710 20130221 OMIM 619790 Rag1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19246248|PMID:20109747|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 619790 Rag1 recombination activating 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:7240710 20130221 OMIM 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:11169558|PMID:15475955|PMID:16199547|PMID:16411201|PMID:17576681|PMID:18548531|PMID:20516114|PMID:21190457|PMID:21520333|PMID:24033266|PMID:24728327|PMID:25502805|PMID:25640679|PMID:25741868|PMID:26822237|PMID:27239782|PMID:27331020|PMID:28492532|PMID:28591191|PMID:28767289|PMID:28976722|PMID:29625052|PMID:30512160|PMID:30716324|PMID:31053147|PMID:31738183|PMID:9521327|PMID:9536098|PMID:9916837 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080600 COVID-19 ISO RGD:1316316 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080641 tongue carcinoma ISO RGD:1316316 D RGD:27372889|PMID:20204288 20200601 RGD associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human) 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1316316 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1316316 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome PMID:24728327|PMID:25741868|PMID:28492532 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:10907 microcephaly ISO RGD:1316316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:10907 microcephaly ISO RGD:1316316 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1520 colon carcinoma ISO RGD:1316316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24728327|PMID:25741868|PMID:28492532|PMID:9521327 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1793 pancreatic cancer ISO RGD:1316316 D RGD:2326105|PMID:17242465 20100624 RGD protein:altered localization:pancreas 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1969 cerebral palsy ISO RGD:1316316 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2394 ovarian cancer ISO RGD:1316316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2717 Bloom syndrome ISO RGD:1316316 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3121 gallbladder cancer ISO RGD:1316316 D RGD:2324871|PMID:18497548 20100624 RGD mRNA:increased expression:gallbladder 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1316316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316316 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:630 genetic disease ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20516114|PMID:24728327|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:1316316 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:767 muscular atrophy ISO RGD:1316317 D RGD:10059412|PMID:23792145 20150817 RGD 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1316316 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9006257 Growth Disorders ISO RGD:1316316 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:7240710 20130221 OMIM 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature chromatid separation trait PMID:11169558|PMID:15475955|PMID:16411201|PMID:18548531|PMID:20516114|PMID:21190457|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28767289|PMID:29625052|PMID:30512160|PMID:31738183|PMID:9916837 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316316 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008692 Aneuploidy susceptibility ISO RGD:1316316 D RGD:1600540|PMID:15475955 20070313 RGD DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:7240710 20200226 OMIM 619791 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:17576681|PMID:20516114|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 619792 Nek2 NIMA-related kinase 2 gene DOID:0080600 COVID-19 ISO RGD:732517 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619792 Nek2 NIMA-related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:7240710 20161012 OMIM 619792 Nek2 NIMA-related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 67 PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532 619792 Nek2 NIMA-related kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732517 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619792 Nek2 NIMA-related kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732517 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 619792 Nek2 NIMA-related kinase 2 gene DOID:630 genetic disease ISO RGD:732517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619792 Nek2 NIMA-related kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732517 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 619792 Nek2 NIMA-related kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732517 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 619792 Nek2 NIMA-related kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732517 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619793 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 619793 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:731405 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 619793 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:11534983|PMID:18784646 20160915 RGD protein:increased expression:renal glomerulus 619793 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:11534982|PMID:20725139 20160915 RGD protein:increased expression:renal glomerulus 619793 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:731405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619793 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731405 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 619794 Cxadr CXADR, Ig-like cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1346916 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 619794 Cxadr CXADR, Ig-like cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1346916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619794 Cxadr CXADR, Ig-like cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619794 Cxadr CXADR, Ig-like cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346916 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619795 Atrx ATRX, chromatin remodeler gene DOID:0050581 brachydactyly ISO RGD:1553098 D RGD:9586033|PMID:23892236 20140925 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:0050908 myelodysplastic syndrome ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19157545 619795 Atrx ATRX, chromatin remodeler gene DOID:0060118 thoracic disease ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 619795 Atrx ATRX, chromatin remodeler gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605736 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619795 Atrx ATRX, chromatin remodeler gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1605736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 619795 Atrx ATRX, chromatin remodeler gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 619795 Atrx ATRX, chromatin remodeler gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 619795 Atrx ATRX, chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:11040909|PMID:10632111 20160316 RGD DNA:nonsense mutation:exon:324C>T (p.R37X) (human) 619795 Atrx ATRX, chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:13442490|PMID:26997013 20171103 RGD DNA:mutation:exon:c. 6740A>C (p.H224P)(human) 619795 Atrx ATRX, chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:1599406|PMID:8630485 20150728 RGD DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human) 619795 Atrx ATRX, chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:7240710 20130221 OMIM 619795 Atrx ATRX, chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHUDLEY-LOWRY SYNDROME | ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked PMID:10398234|PMID:10398237|PMID:10632111|PMID:10751095|PMID:10995512|PMID:11050622|PMID:12116232|PMID:15508018|PMID:15565397|PMID:15591283|PMID:16222662|PMID:16813605|PMID:1684092|PMID:16955409|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21267006|PMID:23681356|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28027854|PMID:28371217|PMID:28492532|PMID:29706636|PMID:31130284|PMID:3239563|PMID:32595695|PMID:6682021|PMID:6711605|PMID:7697714|PMID:8630485|PMID:8968741|PMID:9043863|PMID:9244431|PMID:9326931 619795 Atrx ATRX, chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:7240710 20130221 OMIM 619795 Atrx ATRX, chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome PMID:10204841|PMID:10398237|PMID:10417298|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12116232|PMID:12673795|PMID:15508018|PMID:15591283|PMID:16199547|PMID:16763962|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:17579672|PMID:17609377|PMID:18409179|PMID:18414213|PMID:19291773|PMID:20500465|PMID:20655035|PMID:21421568|PMID:21505078|PMID:22129561|PMID:22659343|PMID:22796527|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24759409|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25640679|PMID:25644381|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26539891|PMID:28027854|PMID:28293299|PMID:28371217|PMID:28492530|PMID:28492532|PMID:28708303|PMID:29158550|PMID:29304373|PMID:29602769|PMID:29790871|PMID:29910053|PMID:31130284|PMID:32170002|PMID:3239563|PMID:32595695|PMID:3658675|PMID:6682021|PMID:6711605|PMID:7506096|PMID:7697714|PMID:7726225|PMID:8630485|PMID:8644709|PMID:8968741|PMID:9244431|PMID:9326931|PMID:9536098|PMID:9598720 619795 Atrx ATRX, chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:9586027|PMID:24805811 20140925 RGD DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) 619795 Atrx ATRX, chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:9586029|PMID:24327140 20140925 RGD DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human) 619795 Atrx ATRX, chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:9586030|PMID:24289169 20140925 RGD DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human) 619795 Atrx ATRX, chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:7240710 20130221 OMIM 619795 Atrx ATRX, chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome PMID:10995512|PMID:12858175|PMID:16955409|PMID:20500465|PMID:24327140|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31130284|PMID:9326931 619795 Atrx ATRX, chromatin remodeler gene DOID:10534 stomach cancer ISO RGD:1553098 D RGD:11354809|PMID:27006499 20220311 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:1059 intellectual disability ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10398237|PMID:10632111|PMID:15508018|PMID:15591283|PMID:18409179|PMID:18414213|PMID:23681356|PMID:24690944|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28371217|PMID:28492532|PMID:3239563|PMID:7697714 619795 Atrx ATRX, chromatin remodeler gene DOID:10907 microcephaly ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 619795 Atrx ATRX, chromatin remodeler gene DOID:1115 sarcoma ISO RGD:1605736 D RGD:11536196|PMID:26428317 20171106 RGD protein:decreased expression: : 619795 Atrx ATRX, chromatin remodeler gene DOID:11383 cryptorchidism ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 619795 Atrx ATRX, chromatin remodeler gene DOID:11383 cryptorchidism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 619795 Atrx ATRX, chromatin remodeler gene DOID:12849 autistic disorder ISO RGD:1605736 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619795 Atrx ATRX, chromatin remodeler gene DOID:12858 Huntington's disease ISO RGD:1553098 D RGD:11040584|PMID:22240898 20160311 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:1529 penile disease ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 619795 Atrx ATRX, chromatin remodeler gene DOID:169 neuroendocrine tumor ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 619795 Atrx ATRX, chromatin remodeler gene DOID:1793 pancreatic cancer ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 619795 Atrx ATRX, chromatin remodeler gene DOID:1799 islet cell tumor disease_progression ISO RGD:1605736 D RGD:9586032|PMID:24148618 20140925 RGD protein:decreased expression:pancreas: 619795 Atrx ATRX, chromatin remodeler gene DOID:1838 Menkes disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 619795 Atrx ATRX, chromatin remodeler gene DOID:1909 melanoma disease_progression ISO RGD:1605736 D RGD:9586028|PMID:24468746 20140925 RGD protein:decreased expression:skin: 619795 Atrx ATRX, chromatin remodeler gene DOID:1923 disorder of sexual development ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 619795 Atrx ATRX, chromatin remodeler gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1605736 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 619795 Atrx ATRX, chromatin remodeler gene DOID:3068 glioblastoma ISO RGD:1605736 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme, somatic 619795 Atrx ATRX, chromatin remodeler gene DOID:3068 glioblastoma disease_progression ISO RGD:1605736 D RGD:13442489|PMID:27478330 20171103 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:3069 malignant astrocytoma ISO RGD:1605736 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 619795 Atrx ATRX, chromatin remodeler gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1605736 D RGD:9586026|PMID:24810474 20140925 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:3069 malignant astrocytoma severity ISO RGD:1605736 D RGD:11040585|PMID:23765250 20160311 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:11040587|PMID:23104868 20160311 RGD DNA:mutations: :multiple 619795 Atrx ATRX, chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:24705251 619795 Atrx ATRX, chromatin remodeler gene DOID:3078 anaplastic astrocytoma ISO RGD:1605736 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 619795 Atrx ATRX, chromatin remodeler gene DOID:3181 oligodendroglioma ISO RGD:1605736 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 619795 Atrx ATRX, chromatin remodeler gene DOID:3347 osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 619795 Atrx ATRX, chromatin remodeler gene DOID:3376 bone osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 619795 Atrx ATRX, chromatin remodeler gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1605736 D RGD:127285382|PMID:31374064 20210617 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605736 D RGD:127285382|PMID:31374064 20210617 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:3948 adrenocortical carcinoma ISO RGD:1605736 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 619795 Atrx ATRX, chromatin remodeler gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605736 D RGD:127285382|PMID:31374064 20210617 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605736 D RGD:127285383|PMID:29748005 20210617 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:5419 schizophrenia ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 619795 Atrx ATRX, chromatin remodeler gene DOID:630 genetic disease ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204841|PMID:10398234|PMID:10398237|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12673795|PMID:1505078|PMID:15508018|PMID:15591283|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21421568|PMID:21505078|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24327140|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:31130284|PMID:3239563|PMID:35444965|PMID:6711605|PMID:7697714|PMID:7726225|PMID:8968741|PMID:9326931|PMID:9536098 619795 Atrx ATRX, chromatin remodeler gene DOID:769 neuroblastoma ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334666|PMID:26523776 619795 Atrx ATRX, chromatin remodeler gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605736 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619795 Atrx ATRX, chromatin remodeler gene DOID:9005603 Muscle Hypotonia ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:10995512|PMID:21505078|PMID:22129561|PMID:25741868|PMID:28492532 619795 Atrx ATRX, chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:11040586|PMID:12116232 20160311 RGD DNA:missense mutation:cds:p.T1621M (human) 619795 Atrx ATRX, chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 619795 Atrx ATRX, chromatin remodeler gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1605736 D RGD:127285385|PMID:26026117 20210618 RGD 619795 Atrx ATRX, chromatin remodeler gene DOID:9006257 Growth Disorders ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 619795 Atrx ATRX, chromatin remodeler gene DOID:9006534 Nervous System Malformations ISO RGD:1605736 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 619795 Atrx ATRX, chromatin remodeler gene DOID:9006608 Lung Carcinoid Tumors disease_progression ISO RGD:1605736 D RGD:127285379|PMID:31499081 20210617 RGD protein:decreased expression:nucleus, lung 619795 Atrx ATRX, chromatin remodeler gene DOID:9007661 Dwarfism ISO RGD:1605736 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 619795 Atrx ATRX, chromatin remodeler gene DOID:9008086 Developmental Disabilities ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891|PMID:28492532|PMID:29790871 619795 Atrx ATRX, chromatin remodeler gene DOID:9008582 Developmental Disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26467025|PMID:28492532 619795 Atrx ATRX, chromatin remodeler gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732524 D RGD:4888517|PMID:18490405 20101119 RGD protein:increased expression:tonsil, T cell 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0060500 drug allergy ISO RGD:732524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16630147 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732524 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:732524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:17641958|PMID:20485159 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:10283 prostate cancer ISO RGD:732524 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:1205 allergic disease severity ISO RGD:732524 D RGD:4782072|PMID:16776674 20101117 RGD DNA:SNP: :927T>C (human) 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:12849 autistic disorder ISO RGD:732524 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:219 colon cancer ISO RGD:732525 D RGD:40903055|PMID:28410235 20210107 RGD associated with Experimental Colitis 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:4781742|PMID:17153879 20101117 RGD DNA:SNP: :927T>C (human) 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:4784257|PMID:16630147 20101117 RGD DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:4848936|PMID:11591188 20101118 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:4888514|PMID:8087328 20101119 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732525 D RGD:4781449|PMID:17689528 20101117 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732525 D RGD:4843543|PMID:16387808 20101118 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:4782072|PMID:16776674 20101117 RGD DNA:SNP: :927T>C (human) 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:4889116|PMID:16771777 20101124 RGD DNA:SNPs:promoter, exon:multiple (human) 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma severity ISO RGD:732524 D RGD:4847129|PMID:16123393 20101118 RGD mRNA, protein:increased expression:respiratory system mucosa 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2942 bronchiolitis ISO RGD:732525 D RGD:4843953|PMID:16337014 20101118 RGD associated with Pneumovirus Infections 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:4781441|PMID:20959046 20101117 RGD mRNA:increased expression:lung 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732525 D RGD:4847792|PMID:14970333 20101118 RGD associated with Pneumonia 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:4783198|PMID:16689996 20101117 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:4888516|PMID:18946234 20101119 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732525 D RGD:4781451|PMID:17627772 20101117 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732525 D RGD:4847512|PMID:15379985 20101118 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:630 genetic disease ISO RGD:732524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:6432 pulmonary hypertension IMP D RGD:4848274|PMID:12910720 20101118 RGD associated with Anoxia 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:850 lung disease ISO RGD:732525 D RGD:4888512|PMID:11325876 20101119 RGD associated with Endotoxemia 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000076 Closed Fractures ISO RGD:732524 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000113 Pneumococcal Meningitis disease_progression IEP D RGD:40903068|PMID:31933824 20210215 RGD mRNA, protein:increased expression:brain (rat) 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000590 Dyspnea IMP D RGD:4888515|PMID:2825489 20101119 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:732525 D RGD:4846883|PMID:16238585 20101118 RGD associated with Respiratory Syncytial Virus Infections 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:4783198|PMID:16689996 20101117 RGD associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:4848936|PMID:11591188 20101118 RGD associated with Asthma 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:4889117|PMID:16739673 20101124 RGD protein:increased expression:nasal cavity epithelium 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9002906 Multiple Organ Failure IMP D RGD:4781453|PMID:17499745 20101117 RGD associated with Kidney Failure, Chronic 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4781446|PMID:18790177 20101117 RGD protein:increased expression:kidney 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:732525 D RGD:40903067|PMID:27703200 20210107 RGD associated with Endotoxemia 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9005372 Inflammation ISO RGD:732524 D RGD:4848616|PMID:12487226 20101118 RGD associated with Cystic Fibrosis 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732524 D RGD:40903061|PMID:18571838 20210107 RGD 619796 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9415 allergic asthma treatment ISO RGD:732525 D RGD:40903070|PMID:23933317 20210107 RGD 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352313 D RGD:4888517|PMID:18490405 20110727 RGD protein:increased expression:tonsil, T cell 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1352313 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0060500 drug allergy ISO RGD:1352313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15970796 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:5144000|PMID:15970796 20110727 RGD DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:1059 intellectual disability ISO RGD:1352313 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:10754 otitis media ISO RGD:9011989 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:5144002|PMID:15475736 20110727 RGD DNA:polymorphism: :601A>G (human) 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:5144003|PMID:15454733 20110727 RGD DNA:polymorphism: :-1220A>C (human) 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1352313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15328359 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:732045 D RGD:4781445|PMID:20497024 20101117 RGD 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:732045 D RGD:5143997|PMID:15328359 20110727 RGD 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:4483 rhinitis ISO RGD:1352313 D RGD:4783198|PMID:16689996 20101117 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:6039 uveal melanoma ISO RGD:1352313 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:27089179|PMID:33288675 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:630 genetic disease ISO RGD:1352313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:40903068|PMID:31933824 20210215 RGD mRNA, protein:increased expression:brain (rat) 619797 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5144004|PMID:21664436 20110727 RGD protein:increased expression:brain 619798 Ppp4r1 protein phosphatase 4, regulatory subunit 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:735851 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 619798 Ppp4r1 protein phosphatase 4, regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:735851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 619798 Ppp4r1 protein phosphatase 4, regulatory subunit 1 gene DOID:543 dystonia ISO RGD:735851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 619798 Ppp4r1 protein phosphatase 4, regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:735851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619799 Vegfb vascular endothelial growth factor B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 619799 Vegfb vascular endothelial growth factor B gene DOID:1059 intellectual disability ISO RGD:1343221 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619799 Vegfb vascular endothelial growth factor B gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD 619799 Vegfb vascular endothelial growth factor B gene DOID:1793 pancreatic cancer ISO RGD:1343221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24604347 619799 Vegfb vascular endothelial growth factor B gene DOID:3070 high grade glioma ISO RGD:1343221 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 619799 Vegfb vascular endothelial growth factor B gene DOID:5844 myocardial infarction ISO RGD:1343221 D RGD:2314324|PMID:17975666 20091110 RGD 619799 Vegfb vascular endothelial growth factor B gene DOID:630 genetic disease ISO RGD:1343221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619799 Vegfb vascular endothelial growth factor B gene DOID:6432 pulmonary hypertension ISO RGD:1343221 D RGD:1625708|PMID:12547729 20070622 RGD 619799 Vegfb vascular endothelial growth factor B gene DOID:9000918 Disease Progression ISO RGD:1343221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 619799 Vegfb vascular endothelial growth factor B gene DOID:9000998 Brain Injuries IEP D RGD:1580574|PMID:12230324 20070622 RGD mRNA, protein:increased expression:brain 619799 Vegfb vascular endothelial growth factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:1622354 D RGD:2314323|PMID:19369214 20091110 RGD 619799 Vegfb vascular endothelial growth factor B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1622354 D RGD:2313725|PMID:16816123 20091012 RGD mRNA:decreased expression:skeletal muscle 619799 Vegfb vascular endothelial growth factor B gene DOID:9007748 Retinal Neovascularization ISO RGD:1622354 D RGD:2314323|PMID:19369214 20091110 RGD 619799 Vegfb vascular endothelial growth factor B gene DOID:9008939 Breast Neoplasms ISO RGD:1343221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 61980 Crybb3 crystallin, beta B3 gene DOID:0110268 cataract 22 multiple types ISO RGD:733594 D RGD:7240710 20130731 OMIM 61980 Crybb3 crystallin, beta B3 gene DOID:0110268 cataract 22 multiple types ISO RGD:733594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 PMID:15914629|PMID:19182255|PMID:23508780|PMID:24940039|PMID:25640679|PMID:25741868|PMID:26694549|PMID:27307692|PMID:28492532|PMID:32830442|PMID:33510601|PMID:34014271|PMID:34356085 61980 Crybb3 crystallin, beta B3 gene DOID:630 genetic disease ISO RGD:733594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61980 Crybb3 crystallin, beta B3 gene DOID:83 cataract ISO RGD:733594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract | ClinVar Annotator: match by term: Congenital nuclear cataract PMID:15914629|PMID:25741868|PMID:26694549|PMID:28492532 619800 Vegfc vascular endothelial growth factor C gene DOID:0001816 angiosarcoma ISO RGD:732214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 619800 Vegfc vascular endothelial growth factor C gene DOID:0002116 pterygium ISO RGD:732214 D RGD:8548457|PMID:22801834 20140305 RGD mRNA:increased expression:bulbar conjunctiva: 619800 Vegfc vascular endothelial growth factor C gene DOID:0050580 hereditary lymphedema ISS RGD:732215 D RGD:13592920 20180518 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 619800 Vegfc vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:7240710 20170503 OMIM 619800 Vegfc vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, ID PMID:23410910|PMID:24744435|PMID:25741868|PMID:30071673 619800 Vegfc vascular endothelial growth factor C gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732214 D RGD:2315482|PMID:17094484 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:1324 lung cancer ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 619800 Vegfc vascular endothelial growth factor C gene DOID:1909 melanoma ISO RGD:732214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17562445 619800 Vegfc vascular endothelial growth factor C gene DOID:1936 atherosclerosis ISO RGD:732215 D RGD:7483588|PMID:22206010 20131203 RGD associated with hypercholesterolemia;protein:increased expression:serum: 619800 Vegfc vascular endothelial growth factor C gene DOID:2154 nephroblastoma disease_progression ISO RGD:732214 D RGD:2315481|PMID:17257131 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:234 colon adenocarcinoma IEP D RGD:2315488|PMID:18424890 20091223 RGD mRNA:increased expression:colon 619800 Vegfc vascular endothelial growth factor C gene DOID:2394 ovarian cancer disease_progression ISO RGD:732214 D RGD:2315470|PMID:19911196 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732214 D RGD:2315471|PMID:19885590 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:3113 papillary carcinoma disease_progression ISO RGD:732214 D RGD:7483611|PMID:12203051 20131203 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: 619800 Vegfc vascular endothelial growth factor C gene DOID:3459 breast carcinoma ISO RGD:732214 D RGD:2315477|PMID:19382240 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732214 D RGD:155630643|PMID:22082308 20221026 RGD protein:increased expression:pancreas (human) 619800 Vegfc vascular endothelial growth factor C gene DOID:4450 renal cell carcinoma ISO RGD:732214 D RGD:2315476|PMID:19500329 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:5082 liver cirrhosis ISO RGD:732214 D RGD:15003200|PMID:18544126 20191108 RGD protein:increased expression:liver: 619800 Vegfc vascular endothelial growth factor C gene DOID:630 genetic disease ISO RGD:732214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619800 Vegfc vascular endothelial growth factor C gene DOID:684 hepatocellular carcinoma ISO RGD:732214 D RGD:15003200|PMID:18544126 20191108 RGD associated with liver cirrhosis; protein:increased expression:liver: 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:2315469|PMID:19923084 20091223 RGD associated with Breast Neoplasms 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:2315474|PMID:19608016 20091223 RGD associated with Prostatic Neoplasms 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:2315475|PMID:19589137 20091223 RGD associated with Cervix Neoplasms 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:2315484|PMID:17034609 20091223 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:7488946|PMID:15289890 20131209 RGD associated with Lymphatic Metastasis; 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732214 D RGD:7483611|PMID:12203051 20131203 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: 619800 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis exacerbates ISO RGD:732214 D RGD:155630642|PMID:18061373 20221026 RGD associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) 619800 Vegfc vascular endothelial growth factor C gene DOID:9002801 Recurrence ISO RGD:732214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26124351 619800 Vegfc vascular endothelial growth factor C gene DOID:9004009 Reperfusion Injury IEP D RGD:2315487|PMID:18704465 20091223 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732214 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619800 Vegfc vascular endothelial growth factor C gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:732214 D RGD:7488946|PMID:15289890 20131209 RGD 619800 Vegfc vascular endothelial growth factor C gene DOID:9008939 Breast Neoplasms ISO RGD:732214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18509974|PMID:26124351 619801 Slc36a1 solute carrier family 36 member 1 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:736301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 619801 Slc36a1 solute carrier family 36 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619801 Slc36a1 solute carrier family 36 member 1 gene DOID:0112265 iminoglycinuria ISO RGD:736301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659 619801 Slc36a1 solute carrier family 36 member 1 gene DOID:630 genetic disease ISO RGD:736301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619801 Slc36a1 solute carrier family 36 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619801 Slc36a1 solute carrier family 36 member 1 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:736301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:0080011 bone resorption disease ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15845617|PMID:18496637|PMID:23333834 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:0080162 lupus nephritis ISO RGD:730969 D RGD:7205483|PMID:21691937 20130107 RGD associated with Lupus Erythematosus, Systemic;protein:increased expression:urine 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:730969 D RGD:7205494|PMID:22386825 20130107 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730969 D RGD:7205513|PMID:21659498 20130108 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:10763 hypertension severity ISO RGD:730969 D RGD:7205512|PMID:22050177 20130108 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:11476 osteoporosis ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17667143 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:1184 nephrotic syndrome ISO RGD:730969 D RGD:7205481|PMID:22989431 20130107 RGD protein:decreased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:730969 D RGD:7205487|PMID:22156488 20130107 RGD associated with Kidney Failure, Chronic 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:12678 hypercalcemia ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15845617 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:13001 carotid stenosis ISO RGD:730969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:730969 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:1712 aortic valve stenosis ISO RGD:730969 D RGD:7205491|PMID:20211333 20130107 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:206 hereditary multiple exostoses ISO RGD:730969 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:3312 bipolar disorder ISO RGD:730969 D RGD:7205488|PMID:20861651 20130107 RGD protein:increased expression:plasma 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:3393 coronary artery disease ISO RGD:730969 D RGD:1620893|PMID:15926884 20070501 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:3407 carotid artery disease ISO RGD:730969 D RGD:1624168|PMID:15117849 20070503 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:3407 carotid artery disease disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15117849|REF_RGD_ID:1624168 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:341 peripheral vascular disease severity ISO RGD:730969 D RGD:1624125|PMID:16115489 20070502 RGD protein:increased expression:plasma 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:3526 cerebral infarction disease_progression ISO RGD:730969 D RGD:7205492|PMID:19895657 20130107 RGD 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:4248 coronary stenosis ISO RGD:730969 D RGD:1624167|PMID:15569000 20070503 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:4676 uremia ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:5199 ureteral obstruction ISO RGD:11035 D RGD:7205482|PMID:22943310 20130107 RGD mRNA:increased expression:tibia 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:5408 Paget's disease of bone susceptibility ISO RGD:730969 D RGD:1620794|PMID:12189164 20070501 RGD DNA:deletion:exon 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:5419 schizophrenia ISO RGD:730969 D RGD:7205488|PMID:20861651 20130107 RGD protein:increased expression:plasma 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:5844 myocardial infarction ISO RGD:730969 D RGD:1620893|PMID:15926884 20070501 RGD 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:6000 congestive heart failure IEP D RGD:1624176|PMID:15883214 20070503 RGD mRNA, protein:incereased expression:myocardium 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:630 genetic disease ISO RGD:730969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:65 connective tissue disease ISO RGD:730969 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:7148 rheumatoid arthritis ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23333834 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:783 end stage renal disease severity ISO RGD:730969 D RGD:7205485|PMID:21479768 20130107 RGD 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:820 myocarditis IEP D RGD:2302361|PMID:18417124 20081215 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:823 periapical periodontitis treatment IEP D RGD:42721981|PMID:32436602 20210226 RGD Lactobacillus acidophilus 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:8398 osteoarthritis disease_progression ISO RGD:730969 D RGD:1625347|PMID:15334463 20151119 RGD 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9000965 Neoplasm Metastasis ISO RGD:730969 D RGD:7205479|PMID:23167338 20130107 RGD associated with Breast Neoplasms;protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9001547 Tibial Fractures IEP D RGD:2302324|PMID:18592139 20081215 RGD associated with Diabetes Mellitus, Experimental 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730969 D RGD:7205493|PMID:18719882 20130107 RGD associated with Diabetes Mellitus, Type 1 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:730969 D RGD:7205514|PMID:20727867 20130108 RGD associated with Diabetes Mellitus, Type 2 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002211 Hyperalgesia ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16769263 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002457 Experimental Arthritis IEP D RGD:1624171|PMID:16696922 20070503 RGD mRNA:decreased expression:bone 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002457 Experimental Arthritis ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23333834 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:42721982|PMID:24066131 20210226 RGD Sinomenine CHEBI:9163 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9002699 Periapical Diseases IEP D RGD:7205516|PMID:21793936 20130108 RGD 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9005372 Inflammation ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23333834 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:730969 D RGD:7240710 20180214 OMIM 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9005421 Paget Disease of Bone 5, Juvenile-Onset ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406|PMID:12189164|PMID:14672344|PMID:19436932|PMID:23837846|PMID:25108083|PMID:25741868|PMID:26762549|PMID:28492532 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9006081 Osteolysis ISO RGD:730969 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12548581 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9007096 Stroke ISO RGD:730969 D RGD:1620776|PMID:17258300 20070501 RGD protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9007692 Insulin Resistance ISO RGD:730969 D RGD:1620889|PMID:15936463 20070501 RGD associated with obesity;protein:increased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9008778 Coronary Artery Calcification severity ISO RGD:730969 D RGD:7205482|PMID:22943310 20130107 RGD associated with Kidney Failure, Chronic 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9008887 Microvascular Angina ISO RGD:730969 D RGD:1620974|PMID:15648548 20070503 RGD protein:decreased expression:serum 619802 Tnfrsf11b TNF receptor superfamily member 11B gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:730969 D RGD:7205512|PMID:22050177 20130108 RGD protein:increased expression:serum 619804 Rraga Ras-related GTP binding A gene DOID:630 genetic disease ISO RGD:1349440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619805 RragB Ras-related GTP binding B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343212 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619805 RragB Ras-related GTP binding B gene DOID:12849 autistic disorder ISO RGD:1343212 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619805 RragB Ras-related GTP binding B gene DOID:630 genetic disease ISO RGD:1343212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619806 Mtpn myotrophin gene DOID:10763 hypertension IDA D RGD:1581046|PMID:12031792 20150320 RGD 619806 Mtpn myotrophin gene DOID:10763 hypertension IEP D RGD:632799|PMID:12419325 19990101 RGD 619806 Mtpn myotrophin gene DOID:11984 hypertrophic cardiomyopathy ISS RGD:732852 D RGD:13592920 20180518 MouseDO 619806 Mtpn myotrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:1603905 D RGD:1581048|PMID:8508536 20150114 RGD 619806 Mtpn myotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603905 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619806 Mtpn myotrophin gene DOID:6000 congestive heart failure ISS RGD:732852 D RGD:13592920 20180518 MouseDO 619806 Mtpn myotrophin gene DOID:630 genetic disease ISO RGD:1603905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619806 Mtpn myotrophin gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:1581047|PMID:10329199 19990101 RGD 619806 Mtpn myotrophin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603905 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619807 Tjp2 tight junction protein 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733146 D RGD:734629|PMID:12704386 20070301 RGD DNA:transition: ; 143T>C; familial hypercholanemia, OMIM:607748 619807 Tjp2 tight junction protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733146 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 619807 Tjp2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:7240710 20171011 OMIM 619807 Tjp2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:24033266|PMID:24614073|PMID:25741868|PMID:25921221|PMID:28492532|PMID:30311386|PMID:32089630 619807 Tjp2 tight junction protein 2 gene DOID:0110577 autosomal dominant nonsyndromic deafness 51 ISO RGD:733146 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 51 PMID:20602916 619807 Tjp2 tight junction protein 2 gene DOID:10763 hypertension IEP D RGD:1600163|PMID:17234953 20070301 RGD protein:decreased expression:brain 619807 Tjp2 tight junction protein 2 gene DOID:14702 branchiootorenal syndrome ISO RGD:733146 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:25741868|PMID:30311386 619807 Tjp2 tight junction protein 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:733146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614073 619807 Tjp2 tight junction protein 2 gene DOID:630 genetic disease ISO RGD:733146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601346|PMID:25741868|PMID:28492532 619807 Tjp2 tight junction protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733146 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21782914 619807 Tjp2 tight junction protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733146 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 619807 Tjp2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:7240710 20210414 OMIM 619807 Tjp2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:12704386|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28924228|PMID:29238877 619807 Tjp2 tight junction protein 2 gene DOID:9007118 Familial Hypercholanemia ISO RGD:733146 D RGD:11554173 20210429 CTD CTD Direct Evidence: marker/mechanism 619807 Tjp2 tight junction protein 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 619808 Hrg histidine-rich glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736906 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 619808 Hrg histidine-rich glycoprotein gene DOID:0060903 thrombosis ISO RGD:736906 D RGD:1599656|PMID:9414276 20070209 RGD DNA, protein:missense mutation, decreased expression:exon, plasma:p.G85E (429G>A) (human) 619808 Hrg histidine-rich glycoprotein gene DOID:0060903 thrombosis ISO RGD:736906 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:34355501 619808 Hrg histidine-rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:7240710 20131030 OMIM 619808 Hrg histidine-rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency PMID:11057869|PMID:25741868|PMID:29108964|PMID:34355501|PMID:9414276 619808 Hrg histidine-rich glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:736906 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 619808 Hrg histidine-rich glycoprotein gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:736906 D RGD:11041886|PMID:21713765 20160401 RGD 619808 Hrg histidine-rich glycoprotein gene DOID:630 genetic disease ISO RGD:736906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619808 Hrg histidine-rich glycoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19552798 619809 Ntn1 netrin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:735502 D RGD:13782183|PMID:30066400 20180827 RGD 619809 Ntn1 netrin 1 gene DOID:4724 brain edema ISO RGD:735501 D RGD:11554173 20181225 CTD CTD Direct Evidence: therapeutic PMID:29162556 619809 Ntn1 netrin 1 gene DOID:630 genetic disease ISO RGD:735501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619809 Ntn1 netrin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735501 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 619809 Ntn1 netrin 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735501 D RGD:11554173 20181225 CTD CTD Direct Evidence: therapeutic PMID:29162556 619809 Ntn1 netrin 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment IEP D RGD:155663663|PMID:26670826 20221201 RGD 619809 Ntn1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:7240710 20190315 OMIM 619809 Ntn1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Mirror movements 4 PMID:28945198 619809 Ntn1 netrin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735501 D RGD:11554173 20230117 CTD CTD Direct Evidence: therapeutic PMID:35292334 619809 Ntn1 netrin 1 gene DOID:9296 cleft lip ISO RGD:735501 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate 61981 Csn2 casein beta gene DOID:305 carcinoma ISO RGD:1352883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9879772|PMID:16316942 61981 Csn2 casein beta gene DOID:630 genetic disease ISO RGD:1352883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61981 Csn2 casein beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1352883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9879772|PMID:16316942 61981 Csn2 casein beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 61981 Csn2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 61981 Csn2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352883 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9879772|PMID:16316942 619811 Ntn3 netrin 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732796 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 619811 Ntn3 netrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 619811 Ntn3 netrin 3 gene DOID:1826 epilepsy ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 619811 Ntn3 netrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732796 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 619811 Ntn3 netrin 3 gene DOID:630 genetic disease ISO RGD:732796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619812 Calcoco1 calcium binding and coiled coil domain 1 gene DOID:630 genetic disease ISO RGD:731717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619812 Calcoco1 calcium binding and coiled coil domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731717 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:0060180 colitis ISO RGD:1348941 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:0060180 colitis severity ISO RGD:734236 D RGD:5491188|PMID:17043423 20110930 RGD protein:increased expression:T cells:constitutive expression of transgene increases severity (mouse) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:11476 osteoporosis ISS RGD:734236 D RGD:13592920 20180518 MouseDO OMIM:166710 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:12556 acute kidney tubular necrosis ISO RGD:734236 D RGD:7242901|PMID:9422398 20130424 RGD mRNA:increased expression:kidney 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:5491177|PMID:18593762 20110929 RGD DNA:polymorphism:intron:rs8048002T>C (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:2377 multiple sclerosis ISO RGD:1348941 D RGD:5491175|PMID:21653641 20110928 RGD DNA:polymorphism:exon:c.1632G>C, rs4774 (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:2377 multiple sclerosis no_association ISO RGD:1348941 D RGD:5491189|PMID:16426246 20110930 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348941 D RGD:1358146|PMID:15821736 20111003 RGD DNA:polymorphism:promoter:-168A>G (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:399 tuberculosis susceptibility ISO RGD:734236 D RGD:5491205|PMID:12828554 20111003 RGD knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time (mouse) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:1600188|PMID:9099848 20070302 RGD DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:7240710 20230510 OMIM 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency PMID:11704716|PMID:11862382|PMID:15897313|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24044430|PMID:25741868|PMID:26271388|PMID:27484032|PMID:28492532|PMID:29095814|PMID:8402893|PMID:9099848|PMID:9536098 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:5812 MHC class II deficiency severity ISO RGD:1348941 D RGD:5491200|PMID:11466404 20111003 RGD DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:5844 myocardial infarction no_association ISO RGD:1348941 D RGD:5491201|PMID:17183695 20111003 RGD DNA:polymorphism:promoter:-168A>G (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348941 D RGD:1358146|PMID:15821736 20111003 RGD DNA:polymorphism:promoter:-168A>G (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:630 genetic disease ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1348941 D RGD:5491189|PMID:16426246 20110930 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:5491187|PMID:17661914 20110930 RGD DNA:polymorphism:exon:1614G>C (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:5491176|PMID:19221398 20110928 RGD DNA:haplotype:promoter/CDS:rs3087456G/rs4774C (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:7240710 20230510 OMIM 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15821736|PMID:16849401|PMID:25741868|PMID:28492532 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348941 D RGD:5491189|PMID:16426246 20110930 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:1358146|PMID:15821736 20111003 RGD DNA:polymorphism:promoter:-168A>G (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:820 myocarditis ISO RGD:734236 D RGD:5491199|PMID:15808836 20111003 RGD Experimental autoimmune myocarditis; mRNA:antisense knockdown (mouse) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:823 periapical periodontitis IDA D RGD:7242892|PMID:20478458 20130424 RGD 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9001542 Albuminuria ISO RGD:1348941 D RGD:5491201|PMID:17183695 20111003 RGD DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:1358146|PMID:15821736 20130424 RGD 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1348941 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734236 D RGD:7242896|PMID:14569092 20130424 RGD 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9006646 Metabolic Syndrome ISO RGD:1348941 D RGD:5491201|PMID:17183695 20111003 RGD DNA:polymorphism:promoter:-168A>G (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9074 systemic lupus erythematosus ISO RGD:1348941 D RGD:5491190|PMID:15897313 20110930 RGD DNA:polymorphism:intron:g.485A>G (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348941 D RGD:5491203|PMID:17711409 20111003 RGD DNA:polymorphism:promoter:rs3087456 (human) 619813 Ciita class II, major histocompatibility complex, transactivator gene DOID:9074 systemic lupus erythematosus resistance ISO RGD:1348941 D RGD:5491204|PMID:17693604 20111003 RGD DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) (human) 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732926 D RGD:11576292|PMID:20888579 20170105 RGD DNA:snp:intron:c.230-1933G>C (rs11657991) (human) 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732927 D RGD:11097581|PMID:25600067 20170110 RGD mRNA:decreased expression:forebrain (mouse) 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:732926 D RGD:11576299|PMID:23537733 20170106 RGD protein:decreased expression:cerebral cortex, postsynaptic density (human) 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732926 D RGD:11576297|PMID:24377651 20170106 RGD DNA:snps:introns:multiple (human) 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:732926 D RGD:11576298|PMID:15303240 20170106 RGD DNA:snps, haplotype:multiple (human) 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:630 genetic disease ISO RGD:732926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619814 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:9684990|PMID:17569780 20141212 RGD protein:increased expression:glomerular visceral epithelial cell 619816 Tnfsf4 TNF superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1345164 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 619816 Tnfsf4 TNF superfamily member 4 gene DOID:14557 primary pulmonary hypertension ISS RGD:733125 D RGD:13592920 20180518 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 619816 Tnfsf4 TNF superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345164 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619816 Tnfsf4 TNF superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1345164 D RGD:38455996|PMID:28086903 20200807 RGD 619816 Tnfsf4 TNF superfamily member 4 gene DOID:3755 antithrombin III deficiency ISO RGD:1345164 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 619816 Tnfsf4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 619816 Tnfsf4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:1580396|PMID:15750594 19990101 RGD 619816 Tnfsf4 TNF superfamily member 4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345164 D RGD:7240710 20190502 OMIM 619816 Tnfsf4 TNF superfamily member 4 gene DOID:630 genetic disease ISO RGD:1345164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619816 Tnfsf4 TNF superfamily member 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 619816 Tnfsf4 TNF superfamily member 4 gene DOID:820 myocarditis ISO RGD:1345164 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 619816 Tnfsf4 TNF superfamily member 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 619816 Tnfsf4 TNF superfamily member 4 gene DOID:9065 leishmaniasis ISO RGD:1345164 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:10637281 619816 Tnfsf4 TNF superfamily member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345164 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059267|PMID:19838193 619816 Tnfsf4 TNF superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345164 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619816 Tnfsf4 TNF superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:1345164 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 619816 Tnfsf4 TNF superfamily member 4 gene DOID:9744 type 1 diabetes mellitus ISS RGD:733125 D RGD:13592920 20180518 MouseDO OMIM:222100 619817 Serpina5 serpin family A member 5 gene DOID:0081063 DICER1 syndrome ISO RGD:1346137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 619817 Serpina5 serpin family A member 5 gene DOID:13580 cholestasis ISO RGD:1346137 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 619817 Serpina5 serpin family A member 5 gene DOID:630 genetic disease ISO RGD:1346137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619817 Serpina5 serpin family A member 5 gene DOID:670 amphetamine abuse ISO RGD:1346137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 619817 Serpina5 serpin family A member 5 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1346137 D RGD:1580299|PMID:12139754 19990101 RGD protein:increased expression:plasma (human) 619818 Bpifa1 BPI fold containing family A, member 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:736029 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15513904 619818 Bpifa1 BPI fold containing family A, member 1 gene DOID:10754 otitis media ISS RGD:736030 D RGD:13592920 20180518 MouseDO OMIM:166760 619818 Bpifa1 BPI fold containing family A, member 1 gene DOID:630 genetic disease ISO RGD:736029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619818 Bpifa1 BPI fold containing family A, member 1 gene DOID:9005372 Inflammation ISO RGD:8770878 D RGD:9068941 20200609 RGD PMID:20949060|REF_RGD_ID:11554178 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0050777 Joubert syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0081097 Rafiq syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733597 D RGD:11567265|PMID:17235395 20161205 RGD DNA:deletion:intron:c.1159-14_-22del (human) 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:7240710 20140903 OMIM 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia PMID:15362570|PMID:17235395|PMID:21700882|PMID:25741868 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:1826 epilepsy ISO RGD:733597 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:305 carcinoma ISO RGD:733597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:630 genetic disease ISO RGD:733597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733597 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619819 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 61982 Hpn hepsin gene DOID:0110222 Brugada syndrome 5 ISO RGD:732957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 61982 Hpn hepsin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 61982 Hpn hepsin gene DOID:543 dystonia ISO RGD:732957 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 61982 Hpn hepsin gene DOID:630 genetic disease ISO RGD:732957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61982 Hpn hepsin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15583422|PMID:16783571 61982 Hpn hepsin gene DOID:9455 lipid storage disease ISO RGD:732957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 619820 Mrpl37 mitochondrial ribosomal protein L37 gene DOID:0080600 COVID-19 ISO RGD:1348769 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619820 Mrpl37 mitochondrial ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:1348769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619821 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:731609 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 619821 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:7240710 20130221 OMIM 619821 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 PMID:16199547|PMID:17287286|PMID:17576681|PMID:17668387|PMID:19526370|PMID:20197121|PMID:20227526|PMID:20453710|PMID:20693550|PMID:21639866|PMID:22980518|PMID:25326635|PMID:25741868|PMID:26475597|PMID:26827111|PMID:27484306|PMID:27896121|PMID:28492532|PMID:29217198|PMID:30470562|PMID:33230783|PMID:34023347|PMID:9536098 619821 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:630 genetic disease ISO RGD:731609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619821 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:731609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 619821 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000918 Disease Progression ISO RGD:731609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732948 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:732948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1059 intellectual disability ISO RGD:732948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732948 D RGD:1580803|PMID:10024240 19990101 RGD 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11372 megacolon ISO RGD:732948 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12849 autistic disorder ISO RGD:732948 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1682 congenital heart disease ISO RGD:732948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1826 epilepsy ISO RGD:732948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:5419 schizophrenia ISO RGD:732948 D RGD:1358598|PMID:11496370 20150213 RGD DNA:SNP:promoter:− 277A>G (human) 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:5419 schizophrenia ISO RGD:732948 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732948 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9007661 Dwarfism ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:732948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 619822 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732968 D RGD:150573820|PMID:19908066 20220116 RGD associated with Neoplasm Metastasis; DNA:missense mutation:cds: p.R399Q, c.1196G>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732968 D RGD:11075607|PMID:26482462 20160628 RGD DNA:SNP: :p.R280H (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:732968 D RGD:11075607|PMID:26482462 20160628 RGD DNA:SNP: :p.R194W, p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0080199 colorectal carcinoma susceptibility ISO RGD:732968 D RGD:150539031|PMID:28638257 20211223 RGD DNA:SNPs:exon 6, exon 10: p.R194W, p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:7240710 20190315 OMIM 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 PMID:16875718|PMID:19362955|PMID:20530282|PMID:21057378|PMID:22026922|PMID:22188361|PMID:22761669|PMID:22992668|PMID:24224851|PMID:24446315|PMID:25025378|PMID:25232828|PMID:25741868|PMID:27248474|PMID:27636246|PMID:28002403|PMID:28422153|PMID:28743242|PMID:29662106 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732968 D RGD:2302571|PMID:17491266 20081230 RGD DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:732968 D RGD:150530625|PMID:23604281 20211215 RGD DNA:missense mutation:CDS:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:732968 D RGD:150540335|PMID:21378360 20220104 RGD DNA:SNP:exon 10: p.R399Q, 399G>A(human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:150530630|PMID:27706710 20211216 RGD DNA:SNP:: p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:150530647|PMID:23983608 20211220 RGD DNA:SNPs:exon 9, exon 17: c.910A>G, c.1804C>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:150537038|PMID:27221877 20211221 RGD DNA:SNPs:exon 6, exon 10: C>T p.R194W, G>A p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:150530623|PMID:26770441 20211215 RGD DNA:SNP: 399A>G (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:150573705|PMID:17593927 20220110 RGD DNA:missense mutation:cds: p.R399Q G>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:151232294|PMID:20331623 20220117 RGD DNA:missense mutation:cds: p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:732968 D RGD:2302572|PMID:17425776 20081230 RGD DNA:polymorphisms: :multiple 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:150530493|PMID:18272472 20211214 RGD DNA:SNP: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:2302568|PMID:18765423 20081230 RGD DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:11088 asphyxia neonatorum IEP D RGD:2302855|PMID:9763211 20150924 RGD mRNA:increased expression:brain 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:11832 visual epilepsy IEP D RGD:2302852|PMID:15854596 20090119 RGD protein:increased expression:brain, neuron 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:12336 male infertility ISO RGD:732968 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30998386 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:15014793|PMID:22135187 20191115 RGD DNA:missense mutation:cds:p.R194W (rs1799782) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:15036793|PMID:29558945 20191115 RGD DNA:SNP:intron: (rs1001581) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:127 leiomyoma susceptibility ISO RGD:732968 D RGD:2302578|PMID:15760950 20081230 RGD DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer no_association ISO RGD:732968 D RGD:151347439|PMID:15705867 20220124 RGD DNA:missense mutation:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer onset ISO RGD:732968 D RGD:151347407|PMID:25584213 20220119 RGD DNA:missense mutation:exon 10: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer severity ISO RGD:732968 D RGD:151347172|PMID:17952468 20220118 RGD DNA:missense mutation:exon 10: p.R399Q, 28152G>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:11056906|PMID:24935603 20220117 RGD DNA:SNP:exon 10: c.1178G>A, p.R393H (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:151232296|PMID:16652158 20220124 RGD DNA:SNP, haplotype:5'utr: 77T>C (rs3213245) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:151236316|PMID:27323144 20220118 RGD DNA:missense mutation:exon 17: c.1804C>A, p.P602T (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:151347416|PMID:19061777 20220120 RGD DNA:SNPs, haplotypes:exon 6, exon 7: p.R194W, p.P206P (rs179978, rs915927) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:151347426|PMID:17531525 20220120 RGD DNA:missense mutations:cds: p.R399Q, p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:151347450|PMID:25038912 20220125 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1790 malignant mesothelioma treatment ISO RGD:732968 D RGD:151347428|PMID:22982660 20220120 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1793 pancreatic cancer ISO RGD:732968 D RGD:2317367|PMID:16520463 20100331 RGD DNA:SNP:exon:rs1799782 (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:1875 impotence susceptibility ISO RGD:732968 D RGD:2302570|PMID:18582155 20081230 RGD associated with Prostatic Neoplasms;DNA:polymorphism: :p.R280H 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:732968 D RGD:15036794|PMID:23454624 20191115 RGD DNA:missense mutation, haplotype:cds:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:2325713|PMID:19840223 20150928 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:151236313|PMID:27808358 20220118 RGD DNA:missense mutation:cds: p.R280H (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:151236314|PMID:24956286 20220118 RGD DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:732968 D RGD:2293824|PMID:18199464 20081230 RGD DNA:SNP: :p.R194W 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:2773 contact dermatitis susceptibility ISO RGD:732968 D RGD:150539032|PMID:23375119 20211228 RGD associated with nasopharynx carcinoma;DNA:SNP:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3008 invasive ductal carcinoma susceptibility ISO RGD:732968 D RGD:2302569|PMID:18752184 20081230 RGD DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3070 high grade glioma ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25227852 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:732968 D RGD:2317128|PMID:19266243 20100315 RGD DNA:polymorphisms: :p.R194W, p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3571 liver cancer severity ISO RGD:732968 D RGD:15036795|PMID:30088263 20191115 RGD mRNA:increased expression:liver (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732968 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:16639733 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:732968 D RGD:151347444|PMID:11400117 20220125 RGD DNA:missense mutation:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732968 D RGD:150530501|PMID:25710005 20220124 RGD DNA:SNPs,haplotypes:multiple (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:150530505|PMID:28356949 20211214 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:150530634|PMID:27123143 20211220 RGD DNA:SNPs:exon 6, exon 9, exon 10:multiple (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732968 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19157633 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732968 D RGD:11251107|PMID:26345972 20220119 RGD DNA:SNP:3'utr: (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:11538163|PMID:26097609 20220118 RGD DNA:missense mutation:cds: p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:151232295|PMID:25308691 20220117 RGD DNA:missense mutations:cds:p.R194W, p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:11097268|PMID:24446315 20220120 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:127229950|PMID:23549037 20210604 RGD DNA:missense mutation:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:151232297|PMID:22152690 20220117 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:151347175|PMID:19958624 20220118 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:151347402|PMID:19157633 20220119 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:151347410|PMID:24782167 20220119 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:151347427|PMID:15301704 20220120 RGD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:732968 D RGD:151347422|PMID:20003463 20220120 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732968 D RGD:151347406|PMID:11104903 20220119 RGD DNA:missense mutation:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:4362 cervical cancer ISO RGD:732968 D RGD:2302567|PMID:18851872 20081230 RGD DNA:polymorphism: :p.R194W 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:4440 seminoma susceptibility ISO RGD:732968 D RGD:2302576|PMID:16596238 20081230 RGD DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732968 D RGD:2302577|PMID:16510122 20081230 RGD DNA:SNP: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:5041 esophageal cancer susceptibility ISO RGD:732968 D RGD:150530620|PMID:24345911 20220125 RGD DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:14985244|PMID:24018491 20191015 RGD associated with Human Viral Hepatitis;DNA:missense mutation:cds:p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:15036794|PMID:23454624 20191115 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:15036797|PMID:29935355 20191115 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:5419 schizophrenia ISO RGD:732968 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:5517 stomach carcinoma onset ISO RGD:732968 D RGD:150530627|PMID:20863780 20211216 RGD DNA:SNP::p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:6270 gastric cardia carcinoma susceptibility ISO RGD:732968 D RGD:150530627|PMID:20863780 20211216 RGD DNA:SNP::p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:6271 gastric cardia adenocarcinoma susceptibility ISO RGD:732968 D RGD:150530492|PMID:16890595 20211213 RGD DNA:SNP:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:630 genetic disease ISO RGD:732968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732968 D RGD:1331525|PMID:15118671 19990101 GAD 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732968 D RGD:150530503|PMID:28927037 20211214 RGD DNA:SNPs:cds: 194C>T, 280A>G (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732968 D RGD:15036797|PMID:29935355 20191115 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:14985240|PMID:26918371 20191015 RGD DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:15014791|PMID:23534753 20191111 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:150540333|PMID:32334466 20220104 RGD associated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:14696702|PMID:28058700 20190724 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:14696772|PMID:24570146 20190724 RGD DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:14696773|PMID:23493666 20190724 RGD DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:14985238|PMID:29682247 20191015 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:14985242|PMID:24526467 20191015 RGD DNA:missense mutation:cds:c.1804C>A (p.G506A) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:14985243|PMID:22502666 20191015 RGD DNA:missense mutation:cds:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:15014789|PMID:23984316 20191111 RGD DNA:SNPs:exons:c.1254C>T, c.1517G>C (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:15014790|PMID:14519756 20191111 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:15014792|PMID:19194663 20191111 RGD DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:15036794|PMID:23454624 20191115 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:15036797|PMID:29935355 20191115 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:150530624|PMID:24446299 20211215 RGD DNA:SNP:exon 13: c.1471G>A, p.E491K (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:150540332|PMID:24634229 20220104 RGD DNA:SNPs:exon 9, exon 15: c.910A>G, c.1686C>G (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:83 cataract ISO RGD:732969 D RGD:10401127|PMID:18334943 20150928 RGD associated with Radiation Injuries 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:732968 D RGD:11081180|PMID:26250462 20160531 RGD DNA:SNP:cds :p.R194W(human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:8719 in situ carcinoma IDA D RGD:10045659|PMID:21530494 20150615 RGD associated with Lung Neoplasms 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:732968 D RGD:2302576|PMID:16596238 20081230 RGD associated with Neoplasms, Germ Cell and Embryonal;DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9001629 5 Alpha Fluorouracil Toxicity susceptibility ISO RGD:732968 D RGD:150530625|PMID:23604281 20211216 RGD DNA:missense mutation:CDS:p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:732968 D RGD:11252204|PMID:19484764 20160628 RGD DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:732968 D RGD:11252204|PMID:19484764 20160628 RGD DNA:SNP: :p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:17196815|PMID:17486273 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9003216 Salivary Gland Neoplasms severity ISO RGD:732968 D RGD:150530645|PMID:33202356 20211220 RGD protein:decreased expression:saliva-secreting gland (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9003566 Mesothelioma ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16564556|PMID:20705543 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9003996 Birth Weight ISO RGD:732968 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2302580|PMID:17412650 20090102 RGD protein:increased expression:brain 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732968 D RGD:15036797|PMID:29935355 20191115 RGD DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9005463 Occupational Diseases ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15612468 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20223788|PMID:21351625 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9006976 Erythema ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9007329 Human Viral Hepatitis susceptibility ISO RGD:732968 D RGD:15014792|PMID:19194663 20191111 RGD DNA:missense mutation:cds:p.R194W, p.R280H (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:732968 D RGD:8552678|PMID:17290401 20140425 RGD DNA:haplotye:: 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732969 D RGD:15036796|PMID:21737425 20191115 RGD DNA:haploinsufficiency: : (mouse) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732968 D RGD:2302573|PMID:17381415 20081230 RGD DNA:polymorphism 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732968 D RGD:2302574|PMID:16963196 20081230 RGD DNA:polymorphisms: :p.R194W, p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:2302566|PMID:19051060 20081230 RGD DNA:polymorphism: :p.R399Q 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:2302575|PMID:16596326 20081230 RGD DNA:polymorphism:intron:IVS10+141G>A 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732968 D RGD:150573803|PMID:27686263 20220112 RGD DNA:missense mutation:exon 10: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer severity ISO RGD:732968 D RGD:150540339|PMID:22580644 20220124 RGD DNA:missense mutation:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:11353313|PMID:26434847 20211215 RGD DNA:SNP:: p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:150537038|PMID:27221877 20211221 RGD DNA:SNP:exon 6: C>T p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:150537039|PMID:15800946 20211221 RGD DNA:SNP:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:150540340|PMID:22524842 20220107 RGD DNA:SNP:exon 10: p.R399Q G>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:150573806|PMID:25227862 20220113 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:150530641|PMID:17009149 20211220 RGD DNA:SNP:exon 10: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:150539454|PMID:33765714 20211228 RGD DNA:SNP:3'utr: (rs1799782) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:150573706|PMID:22549274 20220110 RGD DNA:missense mutation:cds: p.R399Q G>A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma sexual_dimorphism ISO RGD:732968 D RGD:150573694|PMID:16796765 20220107 RGD DNA:missense mutation:cds: p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:150573697|PMID:27356695 20220110 RGD associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:150573698|PMID:24175791 20220110 RGD DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:150573708|PMID:17630853 20220110 RGD DNA:missense mutation:cds: p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:732968 D RGD:150530619|PMID:29108254 20211215 RGD DNA:SNP:3'utr: (rs25489) (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9637 stomatitis ISO RGD:732968 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:732968 D RGD:8552678|PMID:17290401 20140425 RGD DNA:polymorphism,haplotye:cds:p.R399Q(human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732968 D RGD:10401083|PMID:21599457 20150924 RGD DNA:missense mutation:cds:p.G399A (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:11252192|PMID:19101034 20160628 RGD DNA:missense mutation: :p.R194W (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732968 D RGD:11252192|PMID:19101034 20160628 RGD DNA:missense mutation: :p.R399Q (human) 619823 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732968 D RGD:11252110|PMID:21983886 20160624 RGD DNA:missense mutation, haplotype: :p.R399Q (human) 619824 Rpl4 ribosomal protein L4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 619824 Rpl4 ribosomal protein L4 gene DOID:2717 Bloom syndrome ISO RGD:732803 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619824 Rpl4 ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:732803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619824 Rpl4 ribosomal protein L4 gene DOID:9002189 High Myopia ISO RGD:732803 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 619824 Rpl4 ribosomal protein L4 gene DOID:9004484 Sepsis ISO RGD:732803 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 619824 Rpl4 ribosomal protein L4 gene DOID:9256 colorectal cancer ISO RGD:732803 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:11535122|PMID:19191325 20160921 RGD DNA:snps, duplication, deletions:exons:multiple (human) 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:11535128|PMID:25132370 20160921 RGD DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human) 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:11535130|PMID:20378560 20160921 RGD DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human) 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:11535132|PMID:19773262 20160921 RGD DNA:snps, deletions, insertions:exons, introns:multiple (human) 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:11535967|PMID:19061985 20160926 RGD DNA:mutations:multiple (human) 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:11535969|PMID:25946618 20160926 RGD DNA:mutations:multiple (human) 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:7240710 20130619 OMIM 619825 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 619825 Rpl5 ribosomal protein L5 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 619825 Rpl5 ribosomal protein L5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 619825 Rpl5 ribosomal protein L5 gene DOID:12449 aplastic anemia ISO RGD:731697 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 619825 Rpl5 ribosomal protein L5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20378560|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522|PMID:33718801|PMID:9536098 619825 Rpl5 ribosomal protein L5 gene DOID:3068 glioblastoma ISO RGD:731697 D RGD:11535147|PMID:26892688 20160921 RGD DNA:mutations:multiple (human) 619825 Rpl5 ribosomal protein L5 gene DOID:5119 ovarian cyst ISO RGD:731697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 619825 Rpl5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:11535135|PMID:23263491 20160921 RGD DNA:snps, insertion, deletion:cds:multiple (human) 619825 Rpl5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 619825 Rpl5 ribosomal protein L5 gene DOID:630 genetic disease ISO RGD:731697 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619826 Rpl6 ribosomal protein L6 gene DOID:0060578 Noonan syndrome 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 619826 Rpl6 ribosomal protein L6 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 619826 Rpl6 ribosomal protein L6 gene DOID:0080690 RASopathy ISO RGD:733694 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 619826 Rpl6 ribosomal protein L6 gene DOID:0111512 metachondromatosis ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Metachondromatosis 619826 Rpl6 ribosomal protein L6 gene DOID:14330 Parkinson's disease ISO RGD:733694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 619826 Rpl6 ribosomal protein L6 gene DOID:305 carcinoma ISO RGD:733694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619826 Rpl6 ribosomal protein L6 gene DOID:630 genetic disease ISO RGD:733694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619826 Rpl6 ribosomal protein L6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619826 Rpl6 ribosomal protein L6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 619827 Rpl8 ribosomal protein L8 gene DOID:630 genetic disease ISO RGD:735772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619828 Scfd1 sec1 family domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27455348 619828 Scfd1 sec1 family domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350281 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 619828 Scfd1 sec1 family domain containing 1 gene DOID:630 genetic disease ISO RGD:1350281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619828 Scfd1 sec1 family domain containing 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:633771|PMID:9195952 20090812 RGD protein:increased expression:cerebral cortex 619828 Scfd1 sec1 family domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 61983 Grn granulin precursor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1345254 D RGD:5509591|PMID:21613335 20111031 RGD protein:increased expression:cerebrospinal fluids 61983 Grn granulin precursor gene DOID:0050784 primary progressive multiple sclerosis susceptibility ISO RGD:1345254 D RGD:5509596|PMID:20463744 20111031 RGD DNA:SNPs: :rs2879096, rs4792938(human) 61983 Grn granulin precursor gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1345254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:16862116|PMID:16950801|PMID:17698705|PMID:22608501|PMID:25741868|PMID:26467025|PMID:28492532 61983 Grn granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:5509604|PMID:19649643 20111101 RGD 61983 Grn granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:7240710 20130221 OMIM 61983 Grn granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:12459547|PMID:12476321|PMID:16199547|PMID:16401619|PMID:16495329|PMID:16862115|PMID:16862116|PMID:1695080|PMID:16950801|PMID:16983677|PMID:16983685|PMID:17071927|PMID:17202431|PMID:17210807|PMID:17228326|PMID:17345602|PMID:17356379|PMID:17371905|PMID:17436289|PMID:17439980|PMID:17522386|PMID:17576681|PMID:17620546|PMID:17698705|PMID:17826340|PMID:17917583|PMID:17923627|PMID:17949857|PMID:17950702|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18322394|PMID:18359860|PMID:18392865|PMID:18413474|PMID:18464284|PMID:18543312|PMID:18551524|PMID:18565828|PMID:18703462|PMID:18723524|PMID:18752597|PMID:18838661|PMID:18855025|PMID:19012866|PMID:19020205|PMID:19030774|PMID:19133655|PMID:19158106|PMID:19288468|PMID:19632744|PMID:19649643|PMID:19683260|PMID:19766663|PMID:19858458|PMID:19884572|PMID:20020531|PMID:20028451|PMID:20045477|PMID:20087814|PMID:20142524|PMID:20142525|PMID:20301545|PMID:20522652|PMID:20937952|PMID:20947212|PMID:21403024|PMID:21454553|PMID:21482928|PMID:21569259|PMID:21695656|PMID:21753165|PMID:21800185|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22459598|PMID:22491866|PMID:22608501|PMID:22647257|PMID:22781549|PMID:22818528|PMID:22819134|PMID:22906081|PMID:22995991|PMID:23117491|PMID:23338682|PMID:23463024|PMID:23596077|PMID:23609919|PMID:23624518|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23813535|PMID:23990795|PMID:24022032|PMID:24081456|PMID:24387985|PMID:24494724|PMID:24503614|PMID:24703252|PMID:24814951|PMID:25104557|PMID:25333068|PMID:25525159|PMID:25546130|PMID:25558820|PMID:25604855|PMID:25715738|PMID:25741868|PMID:25943890|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26674655|PMID:26791154|PMID:26811050|PMID:26925509|PMID:27082848|PMID:27311648|PMID:27341800|PMID:27567822|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28000352|PMID:28473694|PMID:28492532|PMID:28543767|PMID:28664756|PMID:29036611|PMID:29339765|PMID:29486463|PMID:29525178|PMID:29525180|PMID:29530724|PMID:29614680|PMID:29724592|PMID:29874572|PMID:30054184|PMID:30090657|PMID:30279455|PMID:30528841|PMID:30530974|PMID:30924900|PMID:30954774|PMID:30992141|PMID:31031559|PMID:31122931|PMID:31182772|PMID:31262553|PMID:31361008|PMID:31600775|PMID:31810826|PMID:31855245|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32317127|PMID:32474471|PMID:32507413|PMID:32843152|PMID:33016921|PMID:33351065|PMID:33980708|PMID:34162492|PMID:34573259|PMID:6497355|PMID:9152110|PMID:9259373|PMID:9536098|PMID:9633693 61983 Grn granulin precursor gene DOID:0080855 Parkinsonism ISO RGD:1345254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkinsonism 61983 Grn granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:7240710 20140911 OMIM 61983 Grn granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 PMID:16862116|PMID:16950801|PMID:17698705|PMID:18245784|PMID:18392865|PMID:18723524|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22608501|PMID:23117491|PMID:25525159|PMID:25546130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29614680|PMID:30279455|PMID:30528841|PMID:31122931 61983 Grn granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:10401636|PMID:19016491 20151006 RGD DNA:SNPs: :rs5848, rs850713, rs4792939 (human) 61983 Grn granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:5509600|PMID:20197700 20111101 RGD DNA:SNP:3'UTR:rs5848(human) 61983 Grn granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:5509616|PMID:18565828 20111101 RGD DNA:mutations: : 61983 Grn granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16199547|PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:30279455 61983 Grn granulin precursor gene DOID:10652 Alzheimer's disease onset ISO RGD:1345254 D RGD:5509601|PMID:20142525 20111101 RGD DNA:deletion:exon:c.154delA(human) 61983 Grn granulin precursor gene DOID:10652 Alzheimer's disease severity ISO RGD:62275 D RGD:5509606|PMID:19557827 20111101 RGD mRNA, protein:increased expression:microglia, neuron: 61983 Grn granulin precursor gene DOID:12387 nephrogenic diabetes insipidus ISS RGD:62275 D RGD:13592920 20190307 MouseDO OMIM:125800 | OMIM:304800 61983 Grn granulin precursor gene DOID:12849 autistic disorder ISO RGD:1345254 D RGD:5509590|PMID:21892962 20111031 RGD protein:decreased expression:plasma 61983 Grn granulin precursor gene DOID:1307 dementia ISO RGD:1345254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436289|PMID:18543312 61983 Grn granulin precursor gene DOID:1307 dementia onset ISO RGD:1345254 D RGD:5509592|PMID:21220649 20111031 RGD DNA:polymorphism: :rs1990622(human) 61983 Grn granulin precursor gene DOID:14330 Parkinson's disease ISO RGD:1345254 D RGD:10401642|PMID:23398167 20151006 RGD protein:decreased expression:serum 61983 Grn granulin precursor gene DOID:14330 Parkinson's disease no_association ISO RGD:1345254 D RGD:10401644|PMID:19473366 20151006 RGD DNA:SNP:3' utr:*78C>T (rs5848) (human) 61983 Grn granulin precursor gene DOID:1824 status epilepticus IEP D RGD:10401660|PMID:23887054 20151006 RGD mRNA, protein:increased expression:brain 61983 Grn granulin precursor gene DOID:1936 atherosclerosis ISO RGD:1345254 D RGD:5509781|PMID:19321167 20111103 RGD protein:increased expression:smooth muscle cell, macrophage 61983 Grn granulin precursor gene DOID:2377 multiple sclerosis ISO RGD:1345254 D RGD:5509591|PMID:21613335 20111031 RGD protein:increased expression:macrophage, microglia 61983 Grn granulin precursor gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1345254 D RGD:5509591|PMID:21613335 20111031 RGD protein:increased expression:cerebrospinal fluids 61983 Grn granulin precursor gene DOID:3312 bipolar disorder ISO RGD:1345254 D RGD:10401641|PMID:24581833 20151006 RGD protein:decreased expression:plasma 61983 Grn granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1345254 D RGD:5509593|PMID:21107132 20111031 RGD protein:increased expression:spinal cord, microglia 61983 Grn granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:62275 D RGD:5509593|PMID:21107132 20111031 RGD 61983 Grn granulin precursor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1345254 D RGD:5509619|PMID:18184915 20111101 RGD DNA:mutations: : 61983 Grn granulin precursor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:62275 D RGD:10401661|PMID:23972823 20151006 RGD 61983 Grn granulin precursor gene DOID:3526 cerebral infarction ISO RGD:1345254 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:18723524|PMID:28492532 61983 Grn granulin precursor gene DOID:630 genetic disease ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12459547|PMID:16950801|PMID:17202431|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18752597|PMID:18838661|PMID:19012866|PMID:19030774|PMID:19158106|PMID:19632744|PMID:19649643|PMID:20020531|PMID:20028451|PMID:20142524|PMID:21800185|PMID:22312439|PMID:22781549|PMID:22995991|PMID:23463024|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23990795|PMID:24503614|PMID:25104557|PMID:25333068|PMID:25558820|PMID:25715738|PMID:25741868|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:26925509|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28492532|PMID:28717666|PMID:29486463|PMID:29525178|PMID:29525180|PMID:30279455|PMID:32028661|PMID:32317127|PMID:32507413|PMID:9536098 61983 Grn granulin precursor gene DOID:9000039 Spinal Cord Injuries ISO RGD:62275 D RGD:5509603|PMID:19946692 20111101 RGD mRNA, protein:increased expression:spinal cord: 61983 Grn granulin precursor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61983 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:10401634|PMID:19158106 20151006 RGD DNA, protein:mutations, decreased expression:plasma:multiple 61983 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:10401637|PMID:22797721 20151006 RGD DNA:hypermethylation:promoter 61983 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:10401638|PMID:17950702 20151006 RGD DNA:mutation:intron:IVS6-1G>A (human) 61983 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:10401647|PMID:17228326 20151006 RGD DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple 61983 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 61983 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration onset ISO RGD:1345254 D RGD:10401650|PMID:18192287 20151006 RGD DNA:SNP: :rs9897526 (human) 61983 Grn granulin precursor gene DOID:9002457 Experimental Arthritis ISO RGD:62275 D RGD:5509782|PMID:21393509 20111103 RGD 61983 Grn granulin precursor gene DOID:9002955 Nerve Degeneration ISO RGD:1345254 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21820214 61983 Grn granulin precursor gene DOID:9007096 Stroke ISO RGD:1345254 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:18723524|PMID:28492532 61983 Grn granulin precursor gene DOID:9008293 Primary Progressive Aphasia ISO RGD:1345254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary progressive aphasia PMID:12794388|PMID:16862116|PMID:16950801|PMID:17202431|PMID:17210807|PMID:17439980|PMID:17522386|PMID:17698705|PMID:18183624|PMID:18245784|PMID:18392865|PMID:18551524|PMID:20087814|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21454553|PMID:21482928|PMID:21891869|PMID:22127750|PMID:22608501|PMID:25741868|PMID:26467025|PMID:26791154|PMID:28492532|PMID:6497355 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21454553|PMID:22028881 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:5509588|PMID:16862116 20111031 RGD DNA:mutations, haploinsufficiency: : 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:5509602|PMID:16983685 20111101 RGD DNA:missense mutation:signal peptide:p.A9D(human) 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:5509609|PMID:19012866 20111101 RGD DNA:deletion: :g.102delC(humN) 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:5509612|PMID:18855025 20111101 RGD DNA:deletion:exon: 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia PMID:16862116|PMID:16950801|PMID:18234697|PMID:18723524|PMID:19158106|PMID:19683260|PMID:20045477|PMID:20142524|PMID:21403024|PMID:22491866|PMID:22608501|PMID:23463024|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29724592|PMID:30279455|PMID:30992141|PMID:31600775 61983 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:62275 D RGD:5509589|PMID:21933710 20111031 RGD 619830 Cd40 CD40 molecule gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1604657 D RGD:8547765|PMID:18050371 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:0050175 tick-borne encephalitis ISO RGD:1604657 D RGD:11352252|PMID:16463218 20160712 RGD protein:increased expression:cerebrospinal fluid (human) 619830 Cd40 CD40 molecule gene DOID:0050185 erythema multiforme ISO RGD:1604657 D RGD:8547765|PMID:18050371 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:1604657 D RGD:5490541|PMID:20473910 20110916 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) 619830 Cd40 CD40 molecule gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:1604657 D RGD:5490541|PMID:20473910 20110916 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) 619830 Cd40 CD40 molecule gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604657 D RGD:11520793|PMID:17805323 20160803 RGD protein:increased expression:peripheral blood, monocyte (human) 619830 Cd40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:7240710 20190911 OMIM 619830 Cd40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 PMID:11675497|PMID:12584544|PMID:12593727|PMID:14611700|PMID:15272925|PMID:15307939|PMID:15731360|PMID:17344890|PMID:17949264|PMID:18446002|PMID:20702779|PMID:24033266|PMID:25741868|PMID:28492532 619830 Cd40 CD40 molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:1604657 D RGD:11522746|PMID:19636010 20160805 RGD 619830 Cd40 CD40 molecule gene DOID:0060180 colitis IMP D RGD:5508169|PMID:15591506 20111005 RGD 619830 Cd40 CD40 molecule gene DOID:0060224 atrial fibrillation treatment ISO RGD:1604657 D RGD:8547746|PMID:17392495 20140220 RGD 619830 Cd40 CD40 molecule gene DOID:0060903 thrombosis ISO RGD:1615152 D RGD:5490522|PMID:21914625 20110915 RGD 619830 Cd40 CD40 molecule gene DOID:0080162 lupus nephritis treatment ISO RGD:1615152 D RGD:7248418|PMID:23799000 20130801 RGD 619830 Cd40 CD40 molecule gene DOID:0080162 lupus nephritis treatment ISO RGD:1615152 D RGD:7248425|PMID:19265127 20130802 RGD 619830 Cd40 CD40 molecule gene DOID:0080162 lupus nephritis treatment ISO RGD:1615152 D RGD:7248429|PMID:18566369 20130802 RGD 619830 Cd40 CD40 molecule gene DOID:0080544 hyper IgM syndrome ISO RGD:1604657 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 619830 Cd40 CD40 molecule gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1615152 D RGD:7248735|PMID:18981161 20130816 RGD 619830 Cd40 CD40 molecule gene DOID:10223 dermatomyositis ISO RGD:1604657 D RGD:8547765|PMID:18050371 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:10591 pre-eclampsia ISO RGD:1604657 D RGD:11520792|PMID:19221099 20160803 RGD protein:increased expression:blood, monocyte (human) 619830 Cd40 CD40 molecule gene DOID:10652 Alzheimer's disease ISO RGD:1615152 D RGD:5490302|PMID:21414686 20110913 RGD 619830 Cd40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment IMP D RGD:8547786|PMID:23223173 20140224 RGD 619830 Cd40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615152 D RGD:8547786|PMID:23223173 20160713 RGD 619830 Cd40 CD40 molecule gene DOID:11263 chlamydia ISO RGD:1615152 D RGD:5132268|PMID:20102413 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:11339 pneumocystosis treatment ISO RGD:1615152 D RGD:8547797|PMID:10968950 20140224 RGD 619830 Cd40 CD40 molecule gene DOID:12053 cryptococcosis treatment ISO RGD:1615152 D RGD:7248435|PMID:16552046 20130805 RGD 619830 Cd40 CD40 molecule gene DOID:12361 Graves' disease ISO RGD:1604657 D RGD:8547766|PMID:12593727 20140221 RGD DNA:SNP:5' utr:-1C>T (human) 619830 Cd40 CD40 molecule gene DOID:12361 Graves' disease no_association ISO RGD:1604657 D RGD:8547769|PMID:15307939 20140221 RGD DNA:SNP:5' utr:-1C>T (human) 619830 Cd40 CD40 molecule gene DOID:12361 Graves' disease onset ISO RGD:1604657 D RGD:8547778|PMID:18755875 20140221 RGD DNA:SNP 619830 Cd40 CD40 molecule gene DOID:12365 malaria severity ISO RGD:1615152 D RGD:11352239|PMID:11485931 20160712 RGD 619830 Cd40 CD40 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1604657 D RGD:13702889|PMID:9495297 20180723 RGD 619830 Cd40 CD40 molecule gene DOID:13139 crescentic glomerulonephritis ISO RGD:1615152 D RGD:7248599|PMID:14569091 20130809 RGD 619830 Cd40 CD40 molecule gene DOID:13378 Kawasaki disease ISO RGD:1604657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446961|PMID:22446962 619830 Cd40 CD40 molecule gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1604657 D RGD:8547776|PMID:22645426 20140221 RGD DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) 619830 Cd40 CD40 molecule gene DOID:1790 malignant mesothelioma treatment ISO RGD:1615152 D RGD:11522742|PMID:22002241 20160805 RGD 619830 Cd40 CD40 molecule gene DOID:1824 status epilepticus ISO RGD:1604657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 619830 Cd40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1604657 D RGD:11522745|PMID:17327609 20160805 RGD 619830 Cd40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1615152 D RGD:11522740|PMID:22421945 20160805 RGD 619830 Cd40 CD40 molecule gene DOID:1936 atherosclerosis IEP D RGD:1582628|PMID:16317521 20140224 RGD 619830 Cd40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:1615152 D RGD:5490534|PMID:20505314 20110915 RGD associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta 619830 Cd40 CD40 molecule gene DOID:1936 atherosclerosis treatment IDA D RGD:8547801|PMID:23984971 20160713 RGD 619830 Cd40 CD40 molecule gene DOID:1936 atherosclerosis treatment IEP D RGD:8547801|PMID:23984971 20140224 RGD associated with Hypercholesterolemia 619830 Cd40 CD40 molecule gene DOID:2018 hyperinsulinism ISO RGD:1604657 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 619830 Cd40 CD40 molecule gene DOID:2234 focal epilepsy ISO RGD:1604657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 619830 Cd40 CD40 molecule gene DOID:224 transient cerebral ischemia severity ISO RGD:1615152 D RGD:11352234|PMID:15795333 20160712 RGD 619830 Cd40 CD40 molecule gene DOID:2377 multiple sclerosis ISO RGD:1604657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 619830 Cd40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:5490971|PMID:20634952 20110921 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) 619830 Cd40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:5490975|PMID:20190274 20110921 RGD DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human) 619830 Cd40 CD40 molecule gene DOID:2841 asthma ISO RGD:1604657 D RGD:4144188|PMID:19159017 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:2841 asthma ISO RGD:1604657 D RGD:5132272|PMID:19220210 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:2841 asthma ISO RGD:1615152 D RGD:4892277|PMID:20941750 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:2841 asthma treatment IDA D RGD:8547792|PMID:20205594 20160714 RGD 619830 Cd40 CD40 molecule gene DOID:2841 asthma treatment IEP D RGD:8547792|PMID:20205594 20140224 RGD 619830 Cd40 CD40 molecule gene DOID:2942 bronchiolitis ISO RGD:1604657 D RGD:5132271|PMID:19470255 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1604657 D RGD:1599479|PMID:11675497 20070206 RGD DNA:mutations:exons (human) 619830 Cd40 CD40 molecule gene DOID:2972 renal artery obstruction disease_progression ISO RGD:1604657 D RGD:7248419|PMID:23399713 20130801 RGD 619830 Cd40 CD40 molecule gene DOID:3070 high grade glioma treatment ISO RGD:1615152 D RGD:11352275|PMID:24878890 20160713 RGD 619830 Cd40 CD40 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604657 D RGD:5490968|PMID:20699612 20110921 RGD 619830 Cd40 CD40 molecule gene DOID:3310 atopic dermatitis ISO RGD:1604657 D RGD:5132274|PMID:18693155 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:5490524|PMID:20976171 20110915 RGD protein:increased expression:dendritic cell 619830 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1615152|RGD:1604657 D RGD:5490301|PMID:21436454 20110913 RGD 619830 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1604657 D RGD:11522743|PMID:23983255 20160805 RGD 619830 Cd40 CD40 molecule gene DOID:3892 insulinoma ISO RGD:1615152 D RGD:5491180|PMID:17982058 20110929 RGD 619830 Cd40 CD40 molecule gene DOID:3951 acute myocarditis ISO RGD:1604657 D RGD:13702889|PMID:9495297 20180723 RGD 619830 Cd40 CD40 molecule gene DOID:4195 hyperglycemia ISO RGD:1604657 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 619830 Cd40 CD40 molecule gene DOID:4450 renal cell carcinoma treatment ISO RGD:1615152 D RGD:11522744|PMID:12594303 20160805 RGD 619830 Cd40 CD40 molecule gene DOID:4450 renal cell carcinoma treatment ISO RGD:1615152 D RGD:7248440|PMID:15282531 20130805 RGD 619830 Cd40 CD40 molecule gene DOID:4450 renal cell carcinoma treatment ISO RGD:1615152 D RGD:7248724|PMID:20426873 20130816 RGD 619830 Cd40 CD40 molecule gene DOID:4481 allergic rhinitis ISO RGD:1604657 D RGD:8547782|PMID:19086656 20140221 RGD protein:increased expression:lymphocyte 619830 Cd40 CD40 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1615152 D RGD:7248442|PMID:15210767 20130805 RGD 619830 Cd40 CD40 molecule gene DOID:5050 Ehrlich tumor carcinoma treatment IDA D RGD:11352683|PMID:19269163 20160714 RGD 619830 Cd40 CD40 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604657 D RGD:5490533|PMID:20559432 20110915 RGD protein:increased expression:plasmacytoid dendritic cell 619830 Cd40 CD40 molecule gene DOID:630 genetic disease ISO RGD:1604657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619830 Cd40 CD40 molecule gene DOID:6432 pulmonary hypertension treatment IMP D RGD:11344970|PMID:25998782 20160711 RGD 619830 Cd40 CD40 molecule gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 619830 Cd40 CD40 molecule gene DOID:707 B-cell lymphoma ISO RGD:1604657 D RGD:5490532|PMID:20616215 20110915 RGD 619830 Cd40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 619830 Cd40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:5490972|PMID:20498205 20110921 RGD DNA:SNP: :rs4810485 (human) 619830 Cd40 CD40 molecule gene DOID:783 end stage renal disease severity ISO RGD:1604657 D RGD:7248723|PMID:20846521 20130816 RGD protein:increased expression:plasma 619830 Cd40 CD40 molecule gene DOID:783 end stage renal disease treatment ISO RGD:1604657 D RGD:7248709|PMID:12941150 20130815 RGD 619830 Cd40 CD40 molecule gene DOID:7998 hyperthyroidism treatment ISO RGD:1615152 D RGD:8547761|PMID:16756463 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:8283 peritonitis ISO RGD:1615152 D RGD:7248438|PMID:15780086 20130805 RGD 619830 Cd40 CD40 molecule gene DOID:848 arthritis ISO RGD:1604657 D RGD:7248721|PMID:23256180 20130816 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) 619830 Cd40 CD40 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:1604657 D RGD:11520794|PMID:16527350 20160803 RGD protein:increased expression:peripheral blood, dendritic cell (human) 619830 Cd40 CD40 molecule gene DOID:8567 Hodgkin's lymphoma ISO RGD:1604657 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7621881 619830 Cd40 CD40 molecule gene DOID:8577 ulcerative colitis ISO RGD:1604657 D RGD:5490590|PMID:20133813 20110920 RGD protein:increased expression:intestine, epithelial cell 619830 Cd40 CD40 molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1604657 D RGD:11520790|PMID:9192773 20160803 RGD human cell line in a mouse model 619830 Cd40 CD40 molecule gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5490305|PMID:21240009 20110913 RGD protein:decreased expression:ileum 619830 Cd40 CD40 molecule gene DOID:874 bacterial pneumonia ISO RGD:1615152 D RGD:5132268|PMID:20102413 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:8778 Crohn's disease ISO RGD:1604657 D RGD:5490590|PMID:20133813 20110920 RGD protein:increased expression:intestine, epithelial cell 619830 Cd40 CD40 molecule gene DOID:8778 Crohn's disease susceptibility ISO RGD:1604657 D RGD:5490971|PMID:20634952 20110921 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) 619830 Cd40 CD40 molecule gene DOID:8893 psoriasis susceptibility ISO RGD:1604657 D RGD:5490300|PMID:21645569 20110913 RGD DNA:SNP:intron: (rs4810485) (human) 619830 Cd40 CD40 molecule gene DOID:8923 skin melanoma disease_progression ISO RGD:1604657 D RGD:8547772|PMID:8952530 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604657 D RGD:11344977|PMID:17654056 20160711 RGD protein:increased expression:peripheral blood, B lymphocyte (human) 619830 Cd40 CD40 molecule gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604657 D RGD:8547780|PMID:21912605 20140221 RGD associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human) 619830 Cd40 CD40 molecule gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:1615152 D RGD:8547789|PMID:15922965 20140224 RGD 619830 Cd40 CD40 molecule gene DOID:9000469 Viral Myocarditis ISO RGD:1615152 D RGD:13702887|PMID:10440754 20180723 RGD 619830 Cd40 CD40 molecule gene DOID:9000808 Hypercholesterolemia IEP D RGD:7248754|PMID:21574786 20130816 RGD protein:increased expression:serum 619830 Cd40 CD40 molecule gene DOID:9000808 Hypercholesterolemia treatment IDA D RGD:7248754|PMID:21574786 20160714 RGD 619830 Cd40 CD40 molecule gene DOID:9000998 Brain Injuries treatment IDA D RGD:7248749|PMID:23924471 20130816 RGD 619830 Cd40 CD40 molecule gene DOID:9001488 Human Influenza ISO RGD:1615152 D RGD:5132270|PMID:19922665 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1604657 D RGD:5490523|PMID:21091218 20110915 RGD DNA:SNP:5' utr:rs1883832 (human) 619830 Cd40 CD40 molecule gene DOID:9002153 Chronic Allograft Dysfunction treatment IDA D RGD:11352297|PMID:22826618 20160713 RGD 619830 Cd40 CD40 molecule gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:8547795|PMID:14741776 20140224 RGD 619830 Cd40 CD40 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604657 D RGD:5490532|PMID:20616215 20110915 RGD 619830 Cd40 CD40 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IMP D RGD:13702884|PMID:25297507 20180723 RGD 619830 Cd40 CD40 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1615152 D RGD:5490544|PMID:20435931 20110916 RGD 619830 Cd40 CD40 molecule gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1615152 D RGD:7248442|PMID:15210767 20130805 RGD 619830 Cd40 CD40 molecule gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1615152 D RGD:11520789|PMID:10623823 20160803 RGD 619830 Cd40 CD40 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1615152 D RGD:5132269|PMID:20226305 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:9004009 Reperfusion Injury IMP D RGD:5508171|PMID:12388354 20111005 RGD 619830 Cd40 CD40 molecule gene DOID:9004283 Transplant Rejection disease_progression ISO RGD:1604657 D RGD:7248441|PMID:15221125 20130805 RGD 619830 Cd40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment IMP D RGD:7248755|PMID:21472009 20130816 RGD 619830 Cd40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:1604657 D RGD:8547788|PMID:14698004 20140224 RGD associated with Diabetes Mellitus, Experimental 619830 Cd40 CD40 molecule gene DOID:9004484 Sepsis ISO RGD:1604657 D RGD:5490974|PMID:20473113 20110921 RGD protein:decreased nitrosylation:monocyte 619830 Cd40 CD40 molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1615152 D RGD:8547744|PMID:21137078 20140220 RGD 619830 Cd40 CD40 molecule gene DOID:9005372 Inflammation ISO RGD:1615152 D RGD:8547791|PMID:17804565 20140224 RGD associated with Diabetes Mellitus, Type 1 619830 Cd40 CD40 molecule gene DOID:9005930 Endotoxemia ISO RGD:1615152 D RGD:5490974|PMID:20473113 20110921 RGD protein:decreased nitrosylation:macrophage 619830 Cd40 CD40 molecule gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:11251055|PMID:25993320 20160711 RGD 619830 Cd40 CD40 molecule gene DOID:9006332 Vascular Calcification ISO RGD:1604657 D RGD:7248436|PMID:16494885 20130805 RGD associated with Coronary Artery Disease 619830 Cd40 CD40 molecule gene DOID:9006372 Animal Helminthiasis ISO RGD:1615152 D RGD:5490530|PMID:20702728 20110915 RGD protein:increased expression:plasmacytoid dendritic cell 619830 Cd40 CD40 molecule gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome susceptibility ISO RGD:1615152 D RGD:11520795|PMID:12438641 20160803 RGD 619830 Cd40 CD40 molecule gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:5491181|PMID:17188497 20110929 RGD 619830 Cd40 CD40 molecule gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1604657 D RGD:8547765|PMID:18050371 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1604657 D RGD:11352252|PMID:16463218 20160712 RGD protein:increased expression:cerebrospinal fluid (human) 619830 Cd40 CD40 molecule gene DOID:9007096 Stroke ISO RGD:1604657 D RGD:5490543|PMID:20456428 20110916 RGD associated with Hypertension 619830 Cd40 CD40 molecule gene DOID:9007102 Myocardial Ischemia treatment IDA D RGD:11352677|PMID:19565716 20160714 RGD 619830 Cd40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration IMP D RGD:2313422|PMID:16716410 20110929 RGD 619830 Cd40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration treatment IDA D RGD:2313422|PMID:16716410 20160804 RGD 619830 Cd40 CD40 molecule gene DOID:9007355 Hashimoto Disease ISO RGD:1604657 D RGD:8547767|PMID:17558708 20140221 RGD protein:increased expression:serum 619830 Cd40 CD40 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1604657 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 619830 Cd40 CD40 molecule gene DOID:9007899 Animal Viral Hepatitis severity ISO RGD:1615152 D RGD:5490303|PMID:21360722 20110913 RGD 619830 Cd40 CD40 molecule gene DOID:9008538 Neisseriaceae Infections ISO RGD:1604657 D RGD:5132273|PMID:19202131 20110519 RGD 619830 Cd40 CD40 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1604657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043144 619830 Cd40 CD40 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1604657 D RGD:7248721|PMID:23256180 20130816 RGD DNA:SNP: :rs3765456 (human) 619830 Cd40 CD40 molecule gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1604657 D RGD:5490522|PMID:21914625 20110915 RGD DNA:SNP: :rs4810485 (human) 619830 Cd40 CD40 molecule gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1615152 D RGD:8547750|PMID:14573667 20140220 RGD 619830 Cd40 CD40 molecule gene DOID:9182 pemphigus ISO RGD:1604657 D RGD:5490304|PMID:21255096 20110913 RGD 619830 Cd40 CD40 molecule gene DOID:9201 lichen planus ISO RGD:1604657 D RGD:8547765|PMID:18050371 20140221 RGD 619830 Cd40 CD40 molecule gene DOID:9513 plasma cell leukemia ISO RGD:1604657 D RGD:5490532|PMID:20616215 20110915 RGD 619830 Cd40 CD40 molecule gene DOID:9538 multiple myeloma treatment ISO RGD:1604657 D RGD:11522720|PMID:10866315 20160804 RGD human cells in a mouse model 619830 Cd40 CD40 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604657 D RGD:6893375|PMID:22505539 20130801 RGD protein:increased expression:plasma 619830 Cd40 CD40 molecule gene DOID:9970 obesity ISO RGD:1604657 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 619830 Cd40 CD40 molecule gene DOID:9970 obesity treatment IDA D RGD:7248753|PMID:21670556 20130816 RGD 619831 Fas Fas cell surface death receptor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1552455 D RGD:11049166|PMID:15148335 20160405 RGD 619831 Fas Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346266 D RGD:11049453|PMID:7513372 20160406 RGD protein:increased expression:peripheral blood mononuclear cell: 619831 Fas Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma susceptibility ISO RGD:1346266 D RGD:11049147|PMID:17962369 20160405 RGD DNA:polymorphism:promoter: -670 G>A(human) 619831 Fas Fas cell surface death receptor gene DOID:0050697 chorioamnionitis ISO RGD:1346266 D RGD:12904022|PMID:12700199 20170515 RGD protein:increased expression:villous trophoblast 619831 Fas Fas cell surface death receptor gene DOID:0050700 cardiomyopathy ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716473|PMID:10920071|PMID:17943461 619831 Fas Fas cell surface death receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 619831 Fas Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:11049447|PMID:9557605 20160406 RGD mRNA,protein:increased expression:bone marrow: 619831 Fas Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:11049448|PMID:15686130 20160406 RGD protein:increased expression:peripheral blood mononuclear cell: 619831 Fas Fas cell surface death receptor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 619831 Fas Fas cell surface death receptor gene DOID:0060071 pre-malignant neoplasm treatment IDA D RGD:13792594|PMID:29588340 20180914 RGD associated with gastric adenocarcinoma 619831 Fas Fas cell surface death receptor gene DOID:0060108 brain glioma treatment IDA D RGD:13792598|PMID:29324390 20180917 RGD 619831 Fas Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1552455 D RGD:11049166|PMID:15148335 20160405 RGD 619831 Fas Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1346266 D RGD:1600310|PMID:7539157 20070307 RGD DNA:deletions 619831 Fas Fas cell surface death receptor gene DOID:0080162 lupus nephritis ISO RGD:1346266 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:33632240 619831 Fas Fas cell surface death receptor gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 619831 Fas Fas cell surface death receptor gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1346266 D RGD:8662407|PMID:12466128 20140623 RGD DNA:insertion, deletions:cds:multiple (human) 619831 Fas Fas cell surface death receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1346266 D RGD:11049160|PMID:9404931 20160405 RGD 619831 Fas Fas cell surface death receptor gene DOID:10223 dermatomyositis ISO RGD:1346266 D RGD:8662437|PMID:9182923 20140624 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:1346266 D RGD:2290050|PMID:17667965 20080226 RGD DNA:polymorphism 619831 Fas Fas cell surface death receptor gene DOID:10283 prostate cancer severity ISO RGD:1346266 D RGD:2289639|PMID:18237448 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:12903973|PMID:15695771 20170512 RGD DNA:SNP:promoter:-670A>G (human) 619831 Fas Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:14700669|PMID:30066360 20190809 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) 619831 Fas Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:1358615|PMID:11129341 19990101 RGD DNA:snp:promoter:g.-670G>A (human) 619831 Fas Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:8663481|PMID:12742739 20140703 RGD protein:increased expression:brain, plaque (human) 619831 Fas Fas cell surface death receptor gene DOID:10808 gastric ulcer treatment IEP D RGD:13792597|PMID:29339218 20180917 RGD 619831 Fas Fas cell surface death receptor gene DOID:10952 nephritis ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26590112 619831 Fas Fas cell surface death receptor gene DOID:11054 urinary bladder cancer ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9070496 619831 Fas Fas cell surface death receptor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1346266 D RGD:2290063|PMID:16538171 20080226 RGD DNA:polymorphisms:promoter:-1377G>A,-670A>G 619831 Fas Fas cell surface death receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:1552455 D RGD:8662416|PMID:12506060 20140623 RGD 619831 Fas Fas cell surface death receptor gene DOID:11383 cryptorchidism IEP D RGD:13792609|PMID:29606031 20180917 RGD 619831 Fas Fas cell surface death receptor gene DOID:11446 sciatic neuropathy IEP D RGD:13792563|PMID:29970988 20180912 RGD 619831 Fas Fas cell surface death receptor gene DOID:11713 diabetic angiopathy ISO RGD:1346266 D RGD:2315753|PMID:15803113 20100112 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 619831 Fas Fas cell surface death receptor gene DOID:11832 visual epilepsy IEP D RGD:8662911|PMID:11435933 20140626 RGD mRNA, protein:increased expression:hippocampus (rat) 619831 Fas Fas cell surface death receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1346266 D RGD:14700711|PMID:26429926 20190813 RGD protein:increased expression:lymphocyte: 619831 Fas Fas cell surface death receptor gene DOID:12336 male infertility IEP D RGD:8663476|PMID:23441449 20140703 RGD protein:increased expression:testis (rat) 619831 Fas Fas cell surface death receptor gene DOID:12337 varicocele IEP D RGD:1600348|PMID:16616089 20070307 RGD protein:decreased expression:Leydig cell, spermatid 619831 Fas Fas cell surface death receptor gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 619831 Fas Fas cell surface death receptor gene DOID:12361 Graves' disease ISO RGD:1346266 D RGD:8662820|PMID:11422195 20140625 RGD protein:increased expression:thyroid gland, thyrocyte (human) 619831 Fas Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:11049159|PMID:7577642 20160405 RGD protein:increased expression:CD34+ bone marrow cell 619831 Fas Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:11049449|PMID:11876982 20160406 RGD protein:decreased expression:plasma: 619831 Fas Fas cell surface death receptor gene DOID:12858 Huntington's disease ISO RGD:1346266 D RGD:12903948|PMID:11054182 20170511 RGD protein:decreased expression:putamen,caudate: 619831 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1346266 D RGD:8662410|PMID:9890678 20140623 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:8662436|PMID:11157873 20140624 RGD protein:decreased expression:lacrimal gland, lymphocyte (mouse) 619831 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:8662451|PMID:9870874 20140624 RGD 619831 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISS RGD:1552455 D RGD:13592920 20180518 MouseDO OMIM:270150 619831 Fas Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy IEP D RGD:1600334|PMID:16761189 20070307 RGD protein:increased expression:cardiocyte 619831 Fas Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 619831 Fas Fas cell surface death receptor gene DOID:13099 Moyamoya disease ISO RGD:1346266 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Moyamoya disease 619831 Fas Fas cell surface death receptor gene DOID:13133 HELLP syndrome IEP D RGD:14700673|PMID:28501275 20190809 RGD protein,mRNA:altered expression:placenta, liver: 619831 Fas Fas cell surface death receptor gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1346266 D RGD:14700669|PMID:30066360 20190809 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) 619831 Fas Fas cell surface death receptor gene DOID:13241 Behcet's disease severity ISO RGD:1346266 D RGD:8662438|PMID:9836498 20140624 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:13767 clonorchiasis IEP D RGD:2315733|PMID:18427836 20100111 RGD mRNA, protein:increased expression:liver 619831 Fas Fas cell surface death receptor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1346266 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 619831 Fas Fas cell surface death receptor gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625619 619831 Fas Fas cell surface death receptor gene DOID:14221 abdominal obesity-metabolic syndrome 1 IEP D RGD:13792561|PMID:30172001 20180912 RGD 619831 Fas Fas cell surface death receptor gene DOID:14330 Parkinson's disease ISO RGD:1346266 D RGD:12903948|PMID:11054182 20170511 RGD protein:decreased expression:neurones of the substantia nigra pars: 619831 Fas Fas cell surface death receptor gene DOID:1485 cystic fibrosis severity ISO RGD:1346266 D RGD:12903971|PMID:18685642 20170512 RGD 619831 Fas Fas cell surface death receptor gene DOID:1577 limited scleroderma ISO RGD:1552455 D RGD:12903974|PMID:17102953 20170512 RGD 619831 Fas Fas cell surface death receptor gene DOID:1612 breast cancer susceptibility ISO RGD:1346266 D RGD:2290054|PMID:17183065 20080226 RGD DNA:polymorphism:promoter:-1377G>A 619831 Fas Fas cell surface death receptor gene DOID:1686 glaucoma ISO RGD:1346266 D RGD:8662440|PMID:19043361 20140624 RGD protein:increased expression:optic nerve head, axon (human) 619831 Fas Fas cell surface death receptor gene DOID:1749 squamous cell carcinoma ISO RGD:1346266 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC PMID:10620127 619831 Fas Fas cell surface death receptor gene DOID:1909 melanoma susceptibility ISO RGD:1346266 D RGD:12903985|PMID:16538172 20170512 RGD DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) 619831 Fas Fas cell surface death receptor gene DOID:1936 atherosclerosis treatment IEP D RGD:13792600|PMID:29213335 20180917 RGD associated with type 2 diabetes mellitus 619831 Fas Fas cell surface death receptor gene DOID:2043 hepatitis B ISO RGD:1346266 D RGD:14700675|PMID:12526294 20190809 RGD protein:increased expression:liver: 619831 Fas Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis ISO RGD:1346266 D RGD:14700711|PMID:26429926 20190813 RGD protein:increased expression:lymphocyte: 619831 Fas Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1552455 D RGD:14700710|PMID:28551553 20190813 RGD 619831 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia IEP D RGD:2311437|PMID:18410517 20100111 RGD protein:increased expression:brain 619831 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:1552455 D RGD:8662928|PMID:10972965 20140627 RGD 619831 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment IDA D RGD:8686422|PMID:18981705 20140703 RGD 619831 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment IEP D RGD:153297779|PMID:30301943 20220726 RGD protein:increased expression:brain (rat) 619831 Fas Fas cell surface death receptor gene DOID:2316 brain ischemia IEP D RGD:1600333|PMID:16796407 20070307 RGD protein:increased expression:brain 619831 Fas Fas cell surface death receptor gene DOID:2377 multiple sclerosis ISO RGD:1346266 D RGD:12903947|PMID:8879222 20170511 RGD protein:increased expression:white matter of brain: 619831 Fas Fas cell surface death receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1346266 D RGD:12903986|PMID:12098516 20170512 RGD DNA:polymorphism:promoter:-670A>G (human) 619831 Fas Fas cell surface death receptor gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1346266 D RGD:12903953|PMID:15218339 20170511 RGD DNA:polymorphism:intron:735T>C(human) 619831 Fas Fas cell surface death receptor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1346266 D RGD:2290084|PMID:17565840 20080226 RGD protein:increased expression:blood, peritoneal fluid, T cell 619831 Fas Fas cell surface death receptor gene DOID:2475 chronic conjunctivitis ISO RGD:1346266 D RGD:8662412|PMID:9990333 20140623 RGD protein:increased expression:conjunctival epithelial cell (human) 619831 Fas Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:2290058|PMID:16541433 20080226 RGD protein:increased expression:urine 619831 Fas Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:2290075|PMID:16091761 20080226 RGD protein:decreased expression 619831 Fas Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:2290077|PMID:12470426 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:2841 asthma IEP D RGD:1600350|PMID:16337971 20070307 RGD mRNA:increased expression:eosinophil 619831 Fas Fas cell surface death receptor gene DOID:2921 glomerulonephritis ISO RGD:1346266 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:21880982 619831 Fas Fas cell surface death receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:1552455 D RGD:8686428|PMID:9466307 20140707 RGD 619831 Fas Fas cell surface death receptor gene DOID:2986 IgA glomerulonephritis treatment IDA D RGD:13792576|PMID:29844269 20180913 RGD 619831 Fas Fas cell surface death receptor gene DOID:3021 acute kidney failure ISO RGD:1346266 D RGD:8663469|PMID:21374789 20140702 RGD protein:increased expression:renal tubule (rat) 619831 Fas Fas cell surface death receptor gene DOID:3070 high grade glioma severity ISO RGD:1552455 D RGD:8663460|PMID:11440439 20140702 RGD mouse gene in a rat model 619831 Fas Fas cell surface death receptor gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:13792601|PMID:29208459 20180917 RGD 619831 Fas Fas cell surface death receptor gene DOID:341 peripheral vascular disease ISO RGD:1346266 D RGD:2315707|PMID:17075777 20100108 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma 619831 Fas Fas cell surface death receptor gene DOID:3429 inclusion body myositis ISO RGD:1346266 D RGD:12903959|PMID:9450780 20170511 RGD mRNA,protein:increased expression:muscle 619831 Fas Fas cell surface death receptor gene DOID:3459 breast carcinoma ISO RGD:1346266 D RGD:2290130|PMID:15792116 20080226 RGD protein:decreased expression:breast 619831 Fas Fas cell surface death receptor gene DOID:3492 mixed connective tissue disease ISO RGD:1346266 D RGD:8662437|PMID:9182923 20140624 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:3910 lung adenocarcinoma ISO RGD:1346266 D RGD:151665107|PMID:29254206 20220310 RGD mRNA:decreased expression:lung (human) 619831 Fas Fas cell surface death receptor gene DOID:409 liver disease treatment IEP D RGD:13792574|PMID:29852394 20180913 RGD associated with Diabetes Mellitus, Experimental 619831 Fas Fas cell surface death receptor gene DOID:417 autoimmune disease ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2545777|PMID:22536412|PMID:26590112 619831 Fas Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15169653 619831 Fas Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:8662430|PMID:23043710 20140624 RGD protein:increased expression:peripheral blood, T lymphocyte (human) 619831 Fas Fas cell surface death receptor gene DOID:4440 seminoma ISO RGD:1346266 D RGD:2290049|PMID:17916181 20080226 RGD mRNA, protein:decreased expression:testis 619831 Fas Fas cell surface death receptor gene DOID:4448 macular degeneration severity ISO RGD:1346266 D RGD:8662418|PMID:9488273 20140623 RGD protein:increased expression:choroid, epithelioid cell (human) 619831 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:2290099|PMID:17031406 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:2290131|PMID:12460460 20080226 RGD DNA:missense mutations:exon 619831 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:2290133|PMID:10654915 20080226 RGD protein:increased expression:serum 619831 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1552455 D RGD:2290132|PMID:11435457 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:4692 endophthalmitis IEP D RGD:8662445|PMID:19039600 20140624 RGD protein:increased expression:retinal ganglion cell, bipolar cell of retina, photoreceptor (rat) 619831 Fas Fas cell surface death receptor gene DOID:4752 multiple system atrophy ISO RGD:1346266 D RGD:8663486|PMID:23372841 20140703 RGD protein:increased expression:precentral gyrus (human) 619831 Fas Fas cell surface death receptor gene DOID:4914 esophagus adenocarcinoma ISO RGD:1346266 D RGD:8662425|PMID:10340890 20140623 RGD associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) 619831 Fas Fas cell surface death receptor gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346266 D RGD:14700701|PMID:11003620 20190812 RGD 619831 Fas Fas cell surface death receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346266 D RGD:11049451|PMID:10200468 20160406 RGD 619831 Fas Fas cell surface death receptor gene DOID:5327 retinal detachment IEP D RGD:1600357|PMID:15557468 20070307 RGD mRNA, protein:increased expression:retina 619831 Fas Fas cell surface death receptor gene DOID:5327 retinal detachment treatment IMP D RGD:8662409|PMID:17923548 20140623 RGD 619831 Fas Fas cell surface death receptor gene DOID:576 proteinuria ISO RGD:1346266 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:26590112|PMID:33632240 619831 Fas Fas cell surface death receptor gene DOID:6000 congestive heart failure ISO RGD:1346266 D RGD:8686420|PMID:9367848 20140703 RGD mRNA:splice variant:heart left ventricle (human) 619831 Fas Fas cell surface death receptor gene DOID:6000 congestive heart failure treatment IEP D RGD:13792577|PMID:29746994 20180913 RGD 619831 Fas Fas cell surface death receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645 619831 Fas Fas cell surface death receptor gene DOID:630 genetic disease ISO RGD:1346266 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21490157|PMID:25741868|PMID:28492532 619831 Fas Fas cell surface death receptor gene DOID:6376 hypersplenism ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 619831 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15877736|PMID:17674358 619831 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:12903983|PMID:9028321 20170512 RGD DNA:mutations:cds:555C>T,889A>G(human) 619831 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:12904015|PMID:10200300 20170515 RGD 619831 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:7240710 20130221 OMIM 619831 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10090885|PMID:10515860|PMID:10875918|PMID:1090885|PMID:11830507|PMID:12657942|PMID:15459302|PMID:15459303|PMID:16199547|PMID:16537120|PMID:17576681|PMID:17999750|PMID:18223337|PMID:18948840|PMID:20301287|PMID:20682655|PMID:20935634|PMID:21183795|PMID:2149015|PMID:21490157|PMID:21625619|PMID:22237435|PMID:22752343|PMID:22983577|PMID:23407489|PMID:24033266|PMID:24728327|PMID:25502423|PMID:25741868|PMID:26563159|PMID:27789675|PMID:28492532|PMID:28668589|PMID:32499645|PMID:32888943|PMID:33816397|PMID:34573280|PMID:4852259|PMID:7540117|PMID:9028321|PMID:9028957|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496 619831 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1552455 D RGD:12903956|PMID:10497009 20170511 RGD 619831 Fas Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma IEP D RGD:13792608|PMID:29634416 20180917 RGD 619831 Fas Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1346266 D RGD:14700677|PMID:11274632 20190809 RGD protein:increased expression:liver: 619831 Fas Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552455 D RGD:14700700|PMID:30737368 20190812 RGD 619831 Fas Fas cell surface death receptor gene DOID:687 hepatoblastoma ISO RGD:1346266 D RGD:14700699|PMID:10398166 20190812 RGD mRNA,protein:increased expression:hepatocyte: 619831 Fas Fas cell surface death receptor gene DOID:687 hepatoblastoma ISO RGD:1346266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 619831 Fas Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:12903969|PMID:20875116 20170512 RGD 619831 Fas Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:8662455|PMID:12148596 20140624 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1346266 D RGD:8662433|PMID:23053964 20140624 RGD DNA:snp:promoter:g.-670A>G (human) 619831 Fas Fas cell surface death receptor gene DOID:74 hematopoietic system disease ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 619831 Fas Fas cell surface death receptor gene DOID:768 retinoblastoma severity ISO RGD:1346266 D RGD:8662811|PMID:14533029 20140625 RGD protein:decreased expression:tumor (human) 619831 Fas Fas cell surface death receptor gene DOID:83 cataract ISO RGD:1346266 D RGD:2315757|PMID:12658358 20100121 RGD associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell 619831 Fas Fas cell surface death receptor gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1346266 D RGD:11049146|PMID:26563376 20160405 RGD DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) 619831 Fas Fas cell surface death receptor gene DOID:8568 infectious mononucleosis ISO RGD:1346266 D RGD:11049152|PMID:11185989 20160405 RGD protein:increased expression:monocyte, neutrophil, serum: 619831 Fas Fas cell surface death receptor gene DOID:8577 ulcerative colitis treatment IEP D RGD:13792562|PMID:30122878 20180912 RGD 619831 Fas Fas cell surface death receptor gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346266 D RGD:11049162|PMID:10776692 20160405 RGD protein:increased expression:serum: 619831 Fas Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2290176|PMID:17703359 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13792580|PMID:29738767 20180913 RGD 619831 Fas Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2290177|PMID:17518537 20080226 RGD protein:increased expression:cervical spinal cord 619831 Fas Fas cell surface death receptor gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1346266 D RGD:2298509|PMID:18068525 20080703 RGD associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A 619831 Fas Fas cell surface death receptor gene DOID:9000099 Experimental Colitis treatment IDA D RGD:10054108|PMID:22368862 20150728 RGD 619831 Fas Fas cell surface death receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:1346266 D RGD:11049151|PMID:9605741 20160405 RGD protein:decreased expression:esophageal mucosa: 619831 Fas Fas cell surface death receptor gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:8662886|PMID:9927315 20140626 RGD mRNA:increased expression:testis (rat) 619831 Fas Fas cell surface death receptor gene DOID:9000918 Disease Progression ISO RGD:1346266 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 619831 Fas Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346266 D RGD:2290053|PMID:17352235 20080226 RGD associated with Breast Neoplasms;protein:decreased expression:breast 619831 Fas Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1552455 D RGD:2290048|PMID:17918178 20080226 RGD associated with Mammary Neoplasms;protein:decreased expression:lung 619831 Fas Fas cell surface death receptor gene DOID:9000996 Chest Trauma IEP D RGD:8663480|PMID:21330946 20140703 RGD protein:decreased expression:alveolar macrophage (rat) 619831 Fas Fas cell surface death receptor gene DOID:9000998 Brain Injuries IEP D RGD:1600354|PMID:16078565 20070307 RGD mRNA:increased expression:hippocampus 619831 Fas Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:1552455 D RGD:8662854|PMID:19107989 20141020 RGD associated with Hyperoxia 619831 Fas Fas cell surface death receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1346266 D RGD:14700711|PMID:26429926 20190813 RGD protein:increased expression:lymphocyte: 619831 Fas Fas cell surface death receptor gene DOID:9001472 Nasal Polyps ISO RGD:1346266 D RGD:8662435|PMID:15283292 20140624 RGD protein:decreased expression:nasal polyp (human) 619831 Fas Fas cell surface death receptor gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 619831 Fas Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1346266 D RGD:12904017|PMID:21490053 20170515 RGD protein:increased expression:spinal cord: 619831 Fas Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1552455 D RGD:8663485|PMID:16202410 20140703 RGD 619831 Fas Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1346266 D RGD:1582444|PMID:16689665 20140703 RGD human protein in a rat model 619831 Fas Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2290284|PMID:17105443 20080304 RGD mRNA, protein:increased expression:liver 619831 Fas Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346266 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 619831 Fas Fas cell surface death receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346266 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 619831 Fas Fas cell surface death receptor gene DOID:9001661 Taste Disorders ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22536412 619831 Fas Fas cell surface death receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11809923 619831 Fas Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:1600351|PMID:16222447 20070307 RGD protein:increased expression:liver 619831 Fas Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury IMP D RGD:2290283|PMID:17235585 20080304 RGD 619831 Fas Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:14700680|PMID:18561025 20190809 RGD 619831 Fas Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:8686421|PMID:12861046 20141020 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat) 619831 Fas Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:2312739|PMID:18287563 20100108 RGD mRNA:increased expression:kidney 619831 Fas Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:2315705|PMID:17851466 20100108 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney 619831 Fas Fas cell surface death receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1346266 D RGD:11049461|PMID:12901972 20160406 RGD 619831 Fas Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:1346266 D RGD:12904025|PMID:16169656 20170515 RGD associated with protein:increased expression:serum: 619831 Fas Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:1346266 D RGD:12903973|PMID:15695771 20170512 RGD associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) 619831 Fas Fas cell surface death receptor gene DOID:9002283 Experimental Allergic Asthma treatment IEP D RGD:13792581|PMID:29713367 20180913 RGD 619831 Fas Fas cell surface death receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552455 D RGD:2290046|PMID:18265979 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:9002371 Cardiotoxicity ISO RGD:1346266 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 619831 Fas Fas cell surface death receptor gene DOID:9002395 Hypothermia IEP D RGD:2311437|PMID:18410517 20100111 RGD associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat) 619831 Fas Fas cell surface death receptor gene DOID:9002720 Splenomegaly ISO RGD:1346266 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:21880982 619831 Fas Fas cell surface death receptor gene DOID:9002720 Splenomegaly ISO RGD:1346266 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868|PMID:28492532 619831 Fas Fas cell surface death receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1552455 D RGD:12903974|PMID:17102953 20170512 RGD mRNA:increased expression:retina 619831 Fas Fas cell surface death receptor gene DOID:9002928 Colonic Neoplasms resistance IEP D RGD:1600355|PMID:15796164 20070307 RGD protein:increased expression 619831 Fas Fas cell surface death receptor gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9587791|PMID:21843499 20141020 RGD 619831 Fas Fas cell surface death receptor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1346266 D RGD:8662455|PMID:12148596 20140624 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1346266 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 619831 Fas Fas cell surface death receptor gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:13792595|PMID:29568770 20180914 RGD 619831 Fas Fas cell surface death receptor gene DOID:9004038 Kashin-Beck Disease ISO RGD:1346266 D RGD:10054094|PMID:16511931 20170515 RGD protein:increased expression:articular cartilage, chondrocyte 619831 Fas Fas cell surface death receptor gene DOID:9004484 Sepsis IEP D RGD:2290175|PMID:17899301 20080226 RGD mRNA:increased expression:liver 619831 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12828076 619831 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:14700678|PMID:28060213 20190809 RGD 619831 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:14700697|PMID:10950056 20190812 RGD protein:increased expression:hepatocyte: 619831 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1552455 D RGD:14700667|PMID:25601293 20190809 RGD mRNA,protein:increased expression:liver: 619831 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1552455 D RGD:14700667|PMID:25601293 20190809 RGD 619831 Fas Fas cell surface death receptor gene DOID:9004610 Acute Lung Injury ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 619831 Fas Fas cell surface death receptor gene DOID:9005144 Autoimmune Lymphoproliferative Syndrome, Type IA ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a PMID:10090885|PMID:10200300|PMID:10515860|PMID:10709732|PMID:15459302|PMID:15459303|PMID:18223337|PMID:18948840|PMID:20935634|PMID:21490157|PMID:22237435|PMID:23407489|PMID:28492532|PMID:4165068|PMID:4852259|PMID:7539157|PMID:7540117|PMID:8929361|PMID:9028321|PMID:9533447|PMID:9821419|PMID:9927496 619831 Fas Fas cell surface death receptor gene DOID:9005172 Lung Neoplasms ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 619831 Fas Fas cell surface death receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552455 D RGD:2290047|PMID:18094967 20080226 RGD 619831 Fas Fas cell surface death receptor gene DOID:9005627 Metabolic Brain Diseases IEP D RGD:1600356|PMID:15777748 20070307 RGD protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent 619831 Fas Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314021|PMID:19820199 20100112 RGD protein:increased expression:heart ventricle 619831 Fas Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 619831 Fas Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:1552455 D RGD:2315698|PMID:20004692 20100108 RGD 619831 Fas Fas cell surface death receptor gene DOID:9005647 Experimental Autoimmune Uveitis susceptibility ISO RGD:1552455 D RGD:8662852|PMID:11067900 20140625 RGD 619831 Fas Fas cell surface death receptor gene DOID:9005749 Necrosis ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 619831 Fas Fas cell surface death receptor gene DOID:9005930 Endotoxemia IEP D RGD:8662930|PMID:20428798 20140627 RGD mRNA, protein:increased expression:spleen (rat) 619831 Fas Fas cell surface death receptor gene DOID:9006205 Animal Disease Models ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:26590112 619831 Fas Fas cell surface death receptor gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:13792599|PMID:29285062 20180917 RGD 619831 Fas Fas cell surface death receptor gene DOID:9006411 Testicular Injury ISO RGD:1346266 D RGD:8662900|PMID:9112408 20140626 RGD mRNA:increased expression:testis (rat) 619831 Fas Fas cell surface death receptor gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:1600352|PMID:16152783 20070307 RGD protein:increased expression:renal glomerulus, renal interstitium, renal tubule 619831 Fas Fas cell surface death receptor gene DOID:9006890 Chronic Uveitis severity ISO RGD:1346266 D RGD:8662442|PMID:8814751 20140624 RGD associated with Behcet Syndrome;protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) 619831 Fas Fas cell surface death receptor gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1346266 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 619831 Fas Fas cell surface death receptor gene DOID:9007355 Hashimoto Disease severity ISO RGD:1346266 D RGD:8662824|PMID:15242568 20140625 RGD protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) 619831 Fas Fas cell surface death receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:8662853|PMID:16831245 20140625 RGD protein:increased expression:liver (rat) 619831 Fas Fas cell surface death receptor gene DOID:9007480 Hyperoxia IEP D RGD:8662854|PMID:19107989 20140625 RGD mRNA:increased expression:thalamus, cerebral cortex (rat) 619831 Fas Fas cell surface death receptor gene DOID:9007480 Hyperoxia susceptibility ISO RGD:1552455 D RGD:8662854|PMID:19107989 20140625 RGD 619831 Fas Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1552455 D RGD:14700708|PMID:15797225 20190813 RGD protein:increased expression:Kupffer cell: 619831 Fas Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1552455 D RGD:14700708|PMID:15797225 20190813 RGD 619831 Fas Fas cell surface death receptor gene DOID:9007692 Insulin Resistance treatment IEP D RGD:13792596|PMID:29522769 20180914 RGD associated with hypothalamic disease 619831 Fas Fas cell surface death receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:8686424|PMID:21316771 20140703 RGD 619831 Fas Fas cell surface death receptor gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1346266 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome 619831 Fas Fas cell surface death receptor gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:8663479|PMID:23934157 20140703 RGD mRNA:increased expression:mandibular condyle, cartilage (rat) 619831 Fas Fas cell surface death receptor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 619831 Fas Fas cell surface death receptor gene DOID:9008691 Liver Injury treatment ISO RGD:1552455 D RGD:14700700|PMID:30737368 20190812 RGD 619831 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:11049450|PMID:7531628 20160406 RGD protein:increased expression:T lymphocyte: 619831 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:8662437|PMID:9182923 20140624 RGD protein:increased expression:serum (human) 619831 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISS RGD:1552455 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 619831 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346266 D RGD:8662433|PMID:23053964 20140624 RGD DNA:snps:promoter:g.-1377G>A, g.-670A>G (human) 619831 Fas Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:11049452|PMID:8870373 20160406 RGD 619831 Fas Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7579353 619831 Fas Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346266 D RGD:11049150|PMID:12907599 20160405 RGD DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) 619831 Fas Fas cell surface death receptor gene DOID:9206 Barrett's esophagus severity ISO RGD:1346266 D RGD:12903968|PMID:10821489 20170512 RGD 619831 Fas Fas cell surface death receptor gene DOID:9282 ocular hypertension IEP D RGD:1600312|PMID:17045251 20070307 RGD protein:increased expression:retina, microglial cell 619831 Fas Fas cell surface death receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 619831 Fas Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346266 D RGD:2315742|PMID:19120316 20100112 RGD protein:increased expression:insulin-secreting cells 619831 Fas Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1552455 D RGD:2315754|PMID:9254659 20100112 RGD 619831 Fas Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346266 D RGD:11049157|PMID:9711907 20160405 RGD protein:increased expression:CD34+ bone marrow cell 619831 Fas Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1346266 D RGD:11049148|PMID:10500800 20160405 RGD 619831 Fas Fas cell surface death receptor gene DOID:9976 heroin dependence IEP D RGD:8686423|PMID:14530904 20140703 RGD protein:increased expression:cerebral cortex (rat) 619832 Lgmn legumain gene DOID:0080054 achondrogenesis type IA ISO RGD:731860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 619832 Lgmn legumain gene DOID:630 genetic disease ISO RGD:731860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619832 Lgmn legumain gene DOID:75 lymphatic system disease ISS RGD:1552555 D RGD:13592920 20180518 MouseDO 619832 Lgmn legumain gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:731860 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 619832 Lgmn legumain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619832 Lgmn legumain gene DOID:9002189 High Myopia ISO RGD:731860 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 619833 Serpina7 serpin family A member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351148 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619833 Serpina7 serpin family A member 7 gene DOID:12849 autistic disorder ISO RGD:1351148 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619833 Serpina7 serpin family A member 7 gene DOID:1459 hypothyroidism IEP D RGD:1600137|PMID:2106883 20070228 RGD protein:increased expression:liver 619833 Serpina7 serpin family A member 7 gene DOID:1837 diabetic ketoacidosis ISO RGD:1351148 D RGD:2312332|PMID:6768790 20090806 RGD protein:decreased expression:serum 619833 Serpina7 serpin family A member 7 gene DOID:630 genetic disease ISO RGD:1351148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619833 Serpina7 serpin family A member 7 gene DOID:655 inherited metabolic disorder ISO RGD:1351148 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2155256 619833 Serpina7 serpin family A member 7 gene DOID:7998 hyperthyroidism IEP D RGD:1600139|PMID:2505856 20070228 RGD protein:decreased expression:serum (rat) 619833 Serpina7 serpin family A member 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351148 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619833 Serpina7 serpin family A member 7 gene DOID:9001797 Inherited Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P PMID:18407078|PMID:1901689|PMID:2155256|PMID:2495303|PMID:33554479 619833 Serpina7 serpin family A member 7 gene DOID:9005007 Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency | ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial PMID:1901689|PMID:2155256|PMID:2495303|PMID:25741868|PMID:28492532|PMID:3093522 619833 Serpina7 serpin family A member 7 gene DOID:9351 diabetes mellitus ISO RGD:1351148 D RGD:2312329|PMID:8742570 20090806 RGD 619833 Serpina7 serpin family A member 7 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351148 D RGD:2312330|PMID:1867879 20090806 RGD protein:decreased expression:serum 619834 A1cf APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:13831119|PMID:28679452 20181213 RGD DNA:SNP: :rs10821905 (human) 619834 A1cf APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:13831120|PMID:28252667 20181213 RGD 619834 A1cf APOBEC1 complementation factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733348 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 619834 A1cf APOBEC1 complementation factor gene DOID:630 genetic disease ISO RGD:733348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619835 Pdia4 protein disulfide isomerase family A, member 4 gene DOID:630 genetic disease ISO RGD:1605716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619836 Wdr7 WD repeat domain 7 gene DOID:630 genetic disease ISO RGD:736419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619837 Neo1 neogenin 1 gene DOID:0080600 COVID-19 ISO RGD:733424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619837 Neo1 neogenin 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:733424 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 619837 Neo1 neogenin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 619837 Neo1 neogenin 1 gene DOID:2717 Bloom syndrome ISO RGD:733424 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619837 Neo1 neogenin 1 gene DOID:3320 Tay-Sachs disease ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 619837 Neo1 neogenin 1 gene DOID:5419 schizophrenia ISO RGD:733424 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619837 Neo1 neogenin 1 gene DOID:630 genetic disease ISO RGD:733424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619837 Neo1 neogenin 1 gene DOID:9002560 Penetrating Eye Injuries IEP D RGD:9850142|PMID:21887516 20150330 RGD protein:increased expression:retina 619837 Neo1 neogenin 1 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:9850142|PMID:21887516 20150330 RGD protein:increased expression:retina 619837 Neo1 neogenin 1 gene DOID:9256 colorectal cancer ISO RGD:733424 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:0080600 COVID-19 ISO RGD:1349848 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:0111590 Cohen syndrome ISO RGD:1349848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:3307 teratoma ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1349848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 619838 Pabpc1 poly(A) binding protein, cytoplasmic 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1349848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 619839 Cttn cortactin gene DOID:1059 intellectual disability ISO RGD:1352162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619839 Cttn cortactin gene DOID:1749 squamous cell carcinoma ISO RGD:1352162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 619839 Cttn cortactin gene DOID:630 genetic disease ISO RGD:1352162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619839 Cttn cortactin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 619839 Cttn cortactin gene DOID:9005065 Leukoplakia ISO RGD:1352162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:0050771 pheochromocytoma IEP D RGD:1599780|PMID:17102098 20070214 RGD mRNA:decreased expression 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:2340 craniosynostosis ISO RGD:735357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:3068 glioblastoma ISO RGD:735357 D RGD:1599778|PMID:9288095 20070214 RGD DNA:deletion 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735357 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:630 genetic disease ISO RGD:735357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 61984 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9007971 Nose Neoplasms IEP D RGD:1599782|PMID:12419858 20070214 RGD mRNA, Protein:increased expression 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080600 COVID-19 ISO RGD:734090 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734090 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:1059 intellectual disability ISO RGD:734090 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:12704 ataxia telangiectasia ISO RGD:734090 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:630 genetic disease ISO RGD:734090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734090 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 619840 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 619841 Mchr1 melanin-concentrating hormone receptor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 619841 Mchr1 melanin-concentrating hormone receptor 1 gene DOID:11981 morbid obesity onset ISO RGD:733421 D RGD:1624359|PMID:16186414 20070510 RGD DNA:SNP:promoter 619841 Mchr1 melanin-concentrating hormone receptor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 619841 Mchr1 melanin-concentrating hormone receptor 1 gene DOID:630 genetic disease ISO RGD:733421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619841 Mchr1 melanin-concentrating hormone receptor 1 gene DOID:9970 obesity IEP D RGD:1624360|PMID:15363890 20070510 RGD mRNA:increased expression:hypothalamus 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1348303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:2717 Bloom syndrome ISO RGD:1348303 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:630 genetic disease ISO RGD:1348303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9003370 Dyslipidemias ISO RGD:1348303 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9256 colorectal cancer ISO RGD:1348303 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619842 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9970 obesity ISO RGD:1348303 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 619843 Gpr26 G protein-coupled receptor 26 gene DOID:10283 prostate cancer ISO RGD:736769 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619843 Gpr26 G protein-coupled receptor 26 gene DOID:630 genetic disease ISO RGD:736769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619844 Cnga4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603715 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 619844 Cnga4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1603715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735664 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:0080600 COVID-19 ISO RGD:735664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:735664 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:14320 generalized anxiety disorder severity ISO RGD:735664 D RGD:39938860|PMID:27512921 20201014 RGD protein:increased expression:serum (human) 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:735664 D RGD:39939016|PMID:28467693 20201020 RGD protein:increased expression:skin (human) 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:731530 D RGD:39938861|PMID:32152908 20201014 RGD protein:decreased expression:endometrium (mouse) 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:735664 D RGD:39939083|PMID:22520060 20201027 RGD protein:increased expression:endometrium, cytoplasm (human) 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:735664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:8552988|PMID:22975889 20140501 RGD 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9005369 Hepatomegaly ISO RGD:735664 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:30641053 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:735664 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:30641053 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9007204 Dysbiosis ameliorates IMP D RGD:39939000|PMID:30354811 20220210 RGD 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21984484 619845 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24440569 619846 Crisp3 cysteine-rich secretory protein 3 gene DOID:0060329 ectopic pregnancy ISO RGD:1352578 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19282327 619846 Crisp3 cysteine-rich secretory protein 3 gene DOID:630 genetic disease ISO RGD:1352578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619846 Crisp3 cysteine-rich secretory protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352578 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 619847 Polr2m RNA polymerase II subunit M gene DOID:2717 Bloom syndrome ISO RGD:731440 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619847 Polr2m RNA polymerase II subunit M gene DOID:630 genetic disease ISO RGD:731440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619847 Polr2m RNA polymerase II subunit M gene DOID:9256 colorectal cancer ISO RGD:731440 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 619848 Gpr37 G protein-coupled receptor 37 gene DOID:12217 Lewy body dementia ISO RGD:735262 D RGD:13504666|PMID:14991825 20180116 RGD 619848 Gpr37 G protein-coupled receptor 37 gene DOID:14330 Parkinson's disease ISO RGD:735262 D RGD:13504666|PMID:14991825 20180116 RGD 619848 Gpr37 G protein-coupled receptor 37 gene DOID:1790 malignant mesothelioma ISO RGD:735262 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 619848 Gpr37 G protein-coupled receptor 37 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735262 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619848 Gpr37 G protein-coupled receptor 37 gene DOID:630 genetic disease ISO RGD:735262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619849 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1607054 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 619849 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:12352335 D RGD:9068941 20220630 OMIA Myasthenic syndrome, congenital, COLQ-related PMID:25166616|PMID:27080328|PMID:29405353|PMID:31769119|PMID:32668077 619849 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:13580 cholestasis ISO RGD:1607054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 619849 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:630 genetic disease ISO RGD:1607054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619849 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:856 biotinidase deficiency ISO RGD:1607054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 619849 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:62277 D RGD:5688375|PMID:18522748 20120229 RGD DNA: deletion: exons 7,8: heterozygote 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:10763 hypertension IEP D RGD:11535540|PMID:26248277 20180321 RGD mRNA:increased expression:heart left ventricle, kidney (rat) 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:1287 cardiovascular system disease ISO RGD:1348499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease IEP D RGD:5685370|PMID:17996024 20120301 RGD protein: decreased expression: brain 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1348499 D RGD:5688384|PMID:17125886 20120229 RGD protein: decreased expression: brain 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease no_association ISO RGD:1348499 D RGD:5688382|PMID:21184589 20120229 RGD DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:2320 obstructive lung disease ISO RGD:62277 D RGD:5688385|PMID:14565944 20120229 RGD 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:409 liver disease ISO RGD:1348499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1348499 D RGD:11535540|PMID:26248277 20180321 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure severity ISO RGD:1348499 D RGD:13506835|PMID:22685168 20180220 RGD mRNA:decreased expression:heart left ventricle (human) 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:630 genetic disease ISO RGD:1348499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348499 D RGD:5688380|PMID:10094932 20120229 RGD protein: decreased expression: mononuclear leukocytes 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:62277 D RGD:5688373|PMID:18662895 20120229 RGD DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:9004484 Sepsis ISO RGD:1348499 D RGD:5688378|PMID:16849637 20120229 RGD protein: increased expression: neutrophils 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:9005372 Inflammation ISO RGD:62277 D RGD:5688355|PMID:20945396 20120228 RGD DNA: deletions 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348499 D RGD:13792719|PMID:23727505 20180921 RGD protein:decreased expression:prefrontal cortex (human) 61985 Grk5 G protein-coupled receptor kinase 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1348499 D RGD:5688353|PMID:22074755 20120228 RGD DNA: SNP: rs12415832 619850 Pgf placental growth factor gene DOID:0060180 colitis ISO RGD:1550266 D RGD:6483587|PMID:20142801 20120525 RGD 619850 Pgf placental growth factor gene DOID:1059 intellectual disability ISO RGD:1347328 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 619850 Pgf placental growth factor gene DOID:10591 pre-eclampsia IEP D RGD:6483779|PMID:20720407 20120531 RGD 619850 Pgf placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:1347328 D RGD:6483577|PMID:21756887 20120525 RGD 619850 Pgf placental growth factor gene DOID:10763 hypertension ISO RGD:1347328 D RGD:1642387|PMID:12808329 20070914 RGD associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta 619850 Pgf placental growth factor gene DOID:10923 sickle cell anemia ISO RGD:1347328 D RGD:6483588|PMID:20040765 20120525 RGD protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:11400 pyelonephritis ISO RGD:1347328 D RGD:6483586|PMID:20213923 20120525 RGD protein:decreased expression:plasma 619850 Pgf placental growth factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1550266 D RGD:6483574|PMID:21900081 20120525 RGD 619850 Pgf placental growth factor gene DOID:1577 limited scleroderma ISO RGD:1347328 D RGD:6483571|PMID:22461185 20120525 RGD protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:1612 breast cancer disease_progression ISO RGD:1347328 D RGD:6483604|PMID:22270936 20120529 RGD 619850 Pgf placental growth factor gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1347328 D RGD:14349029|PMID:23463017 20190206 RGD protein:increased expression:serum (human) 619850 Pgf placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1550266|RGD:1347328 D RGD:14349030|PMID:26861455 20190206 RGD human cells in a mouse model 619850 Pgf placental growth factor gene DOID:1824 status epilepticus IEP D RGD:6483774|PMID:22079325 20120531 RGD protein:increased expression:cerebral cortex, hippocampus 619850 Pgf placental growth factor gene DOID:1826 epilepsy ISO RGD:1347328 D RGD:6483572|PMID:22160787 20120525 RGD protein:increased expression:cerebrospinal fluid 619850 Pgf placental growth factor gene DOID:1936 atherosclerosis ISO RGD:1550266 D RGD:6483589|PMID:19952000 20120525 RGD 619850 Pgf placental growth factor gene DOID:2316 brain ischemia ISO RGD:1347328 D RGD:6483783|PMID:16901914 20120531 RGD 619850 Pgf placental growth factor gene DOID:2841 asthma ISO RGD:1550266|RGD:1347328 D RGD:6483605|PMID:22268141 20120529 RGD 619850 Pgf placental growth factor gene DOID:3068 glioblastoma disease_progression ISO RGD:1347328 D RGD:6483585|PMID:20458050 20120525 RGD 619850 Pgf placental growth factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347328 D RGD:6483573|PMID:22119626 20120525 RGD 619850 Pgf placental growth factor gene DOID:3328 temporal lobe epilepsy ISO RGD:1347328 D RGD:6483774|PMID:22079325 20120531 RGD protein:increased expression:temporal cortex 619850 Pgf placental growth factor gene DOID:3407 carotid artery disease severity ISO RGD:1347328 D RGD:6483596|PMID:17157858 20120529 RGD 619850 Pgf placental growth factor gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1550266 D RGD:14349030|PMID:26861455 20190206 RGD associated with obesity 619850 Pgf placental growth factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347328 D RGD:13506645|PMID:14981951 20180206 RGD protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:4977 lymphedema ISO RGD:1347328 D RGD:6483608|PMID:20889885 20120529 RGD associated with Elephantiasis, Filarial;protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:5082 liver cirrhosis ISO RGD:1347328 D RGD:6483607|PMID:21520176 20120529 RGD mRNA, protein:increased expression:liver, serum 619850 Pgf placental growth factor gene DOID:5844 myocardial infarction IMP D RGD:6483777|PMID:21329947 20120531 RGD 619850 Pgf placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1347328 D RGD:6483773|PMID:22114497 20120531 RGD 619850 Pgf placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1550266 D RGD:6483584|PMID:20649603 20120525 RGD 619850 Pgf placental growth factor gene DOID:6000 congestive heart failure IDA D RGD:6483590|PMID:19327525 20120525 RGD 619850 Pgf placental growth factor gene DOID:630 genetic disease ISO RGD:1347328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619850 Pgf placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:6483588|PMID:20040765 20120525 RGD associated with Anemia, Sickle Cell;protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:6483610|PMID:20195855 20120529 RGD associated with Heart Defects, Congenital 619850 Pgf placental growth factor gene DOID:7147 ankylosing spondylitis ISO RGD:1347328 D RGD:6483576|PMID:21873332 20120525 RGD 619850 Pgf placental growth factor gene DOID:7148 rheumatoid arthritis ISO RGD:1347328 D RGD:6483591|PMID:19180491 20120525 RGD 619850 Pgf placental growth factor gene DOID:783 end stage renal disease IEP D RGD:1642390|PMID:16543713 20070914 RGD 619850 Pgf placental growth factor gene DOID:874 bacterial pneumonia ISO RGD:1550266 D RGD:6483601|PMID:16702604 20120529 RGD protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:8778 Crohn's disease ISO RGD:1347328 D RGD:6483592|PMID:17980128 20120525 RGD protein:increased expression:serum 619850 Pgf placental growth factor gene DOID:8947 diabetic retinopathy IEP D RGD:6483775|PMID:21408222 20120531 RGD associated with Diabetes Mellitus, Type 2 619850 Pgf placental growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:1550266 D RGD:6483614|PMID:17194893 20120529 RGD 619850 Pgf placental growth factor gene DOID:9001547 Tibial Fractures ISO RGD:1550266 D RGD:6483602|PMID:16614757 20120529 RGD 619850 Pgf placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1550266 D RGD:6483607|PMID:21520176 20120529 RGD 619850 Pgf placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis disease_progression IEP D RGD:1643338|PMID:17935226 20120529 RGD 619850 Pgf placental growth factor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1347328 D RGD:6483606|PMID:21988672 20120529 RGD associated with Diabetes Mellitus, Type 1 619850 Pgf placental growth factor gene DOID:9002457 Experimental Arthritis ISO RGD:1550266 D RGD:6483591|PMID:19180491 20120525 RGD 619850 Pgf placental growth factor gene DOID:9002498 Wallerian Degeneration ISO RGD:1550266 D RGD:6483582|PMID:21264946 20120525 RGD 619850 Pgf placental growth factor gene DOID:9002669 Hypoxia IEP D RGD:1642388|PMID:17240241 20070914 RGD protein:decreased expression:serum 619850 Pgf placental growth factor gene DOID:9003281 Spontaneous Abortions ISO RGD:1347328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 619850 Pgf placental growth factor gene DOID:9003507 Premature Birth ISO RGD:13470328 D RGD:6483609|PMID:20822327 20120529 RGD 619850 Pgf placental growth factor gene DOID:9004484 Sepsis ISO RGD:1550266 D RGD:6483601|PMID:16702604 20120529 RGD protein:increased expression:plasma 619850 Pgf placental growth factor gene DOID:9005372 Inflammation ISO RGD:1347328 D RGD:6483611|PMID:19356732 20120529 RGD 619850 Pgf placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1347328 D RGD:6483596|PMID:17157858 20070914 RGD associated with Arteriosclerosis;protein:increased expression:artery 619850 Pgf placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1550266 D RGD:1642386|PMID:15911697 20070914 RGD 619850 Pgf placental growth factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:6483782|PMID:17917370 20120531 RGD mRNA, protein:decreased expression:placenta, trophoblast cell 619850 Pgf placental growth factor gene DOID:9005930 Endotoxemia ISO RGD:1550266 D RGD:6483601|PMID:16702604 20120529 RGD protein:increased expression:multiple 619850 Pgf placental growth factor gene DOID:9007096 Stroke ISO RGD:1550266 D RGD:6483603|PMID:11939589 20120529 RGD protein:increased expression:brain, astrocyte 619850 Pgf placental growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1347328 D RGD:6483613|PMID:18192038 20120529 RGD 619850 Pgf placental growth factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1347328 D RGD:6483612|PMID:19276301 20120529 RGD protein:increased expression:serum 619850 Pgf placental growth factor gene DOID:9675 pulmonary emphysema ISO RGD:1550266 D RGD:5135245|PMID:17023518 20120529 RGD mRNA, protein:increased expression:lung, plasma 619850 Pgf placental growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1347328 D RGD:6483583|PMID:21056561 20120525 RGD associated with Diabetes Mellitus, Experimental 619850 Pgf placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:14349030|PMID:26861455 20190206 RGD associated with pancreatic cancer;protein:increased expression:plasma (human) 619850 Pgf placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:1642384|PMID:16769024 20070914 RGD associated with Pre-eclampsia;protein:increased expression:serum 619850 Pgf placental growth factor gene DOID:9970 obesity ISO RGD:1550266 D RGD:1642385|PMID:16020476 20070914 RGD 619851 Rala RAS like proto-oncogene A gene DOID:1059 intellectual disability ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 619851 Rala RAS like proto-oncogene A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1354223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 619851 Rala RAS like proto-oncogene A gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1354223 D RGD:14394418|PMID:29113235 20190313 RGD mRNA:increased expression:pancreas (human) 619851 Rala RAS like proto-oncogene A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354223 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619851 Rala RAS like proto-oncogene A gene DOID:630 genetic disease ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 619851 Rala RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:7240710 20210623 OMIM 619851 Rala RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 619852 Ralb RAS like proto-oncogene B gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1351800 D RGD:14394417|PMID:17174914 20190313 RGD human cells in a mouse model 619852 Ralb RAS like proto-oncogene B gene DOID:630 genetic disease ISO RGD:1351800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619854 Serpind1 serpin family D member 1 gene DOID:0050117 disease by infectious agent ISO RGD:732320 D RGD:1580300|PMID:12361205 19990101 RGD associated with Disseminated Intravascular Coagulation;protein:decreased expression:plasma (human) 619854 Serpind1 serpin family D member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 619854 Serpind1 serpin family D member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 619854 Serpind1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:7240710 20130221 OMIM 619854 Serpind1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 619854 Serpind1 serpin family D member 1 gene DOID:1059 intellectual disability ISO RGD:732320 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619854 Serpind1 serpin family D member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 619854 Serpind1 serpin family D member 1 gene DOID:11372 megacolon ISO RGD:732320 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 619854 Serpind1 serpin family D member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 619854 Serpind1 serpin family D member 1 gene DOID:12849 autistic disorder ISO RGD:732320 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619854 Serpind1 serpin family D member 1 gene DOID:13252 mesenteric vascular occlusion ISO RGD:732320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 619854 Serpind1 serpin family D member 1 gene DOID:1826 epilepsy ISO RGD:732320 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 619854 Serpind1 serpin family D member 1 gene DOID:2213 hemorrhagic disease ISO RGD:732320 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 619854 Serpind1 serpin family D member 1 gene DOID:2452 thrombophilia ISO RGD:732320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2214444 619854 Serpind1 serpin family D member 1 gene DOID:3410 carotid artery thrombosis ISO RGD:732320 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11805133 619854 Serpind1 serpin family D member 1 gene DOID:5419 schizophrenia ISO RGD:732320 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619854 Serpind1 serpin family D member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732320 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 619854 Serpind1 serpin family D member 1 gene DOID:630 genetic disease ISO RGD:732320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619854 Serpind1 serpin family D member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:732320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 619854 Serpind1 serpin family D member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:732320 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 619854 Serpind1 serpin family D member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732320 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619854 Serpind1 serpin family D member 1 gene DOID:9007661 Dwarfism ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1312254 D RGD:150429700|PMID:29945346 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1312254 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:7240710 20130221 OMIM 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome PMID:19110212|PMID:20223752|PMID:25741868|PMID:28492532|PMID:29904280|PMID:8434618|PMID:8818447 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1312254 D RGD:150429705|PMID:26934957 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312254 D RGD:150429705|PMID:26934957 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer exacerbates ISO RGD:1312254 D RGD:150429704|PMID:27010547 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer severity ISO RGD:1312254 D RGD:150429704|PMID:27010547 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis ameliorates IMP D RGD:150517731|PMID:23409069 20211013 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis disease_progression IEP D RGD:150429766|PMID:21199726 20210928 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1312255 D RGD:150519888|PMID:28863860 20220121 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312254 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:18938156|PMID:22328973|PMID:23932362 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:1909 melanoma ameliorates ISO RGD:1312255 D RGD:150429711|PMID:24293323 20210921 RGD DNA:deletion:exons: 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3355 fibrosarcoma ameliorates ISO RGD:1312255 D RGD:150429711|PMID:24293323 20210921 RGD DNA:deletion:exons: 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1312254 D RGD:150429712|PMID:29043607 20210921 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312254 D RGD:150429703|PMID:22807955 20210917 RGD mRNA:increased expression:lung 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:22328973|PMID:25741868|PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1312254 D RGD:150429702|PMID:24885564 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312254 D RGD:150429714|PMID:17299390 20210921 RGD mRNA:decreased expression:lung 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18938156|PMID:22328973|PMID:23932362|PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1312254 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:26206333 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:1312254 D RGD:150429746|PMID:24556606 20210923 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1312254 D RGD:150429712|PMID:29043607 20210921 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:65 connective tissue disease ISO RGD:1312254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312254 D RGD:11086753|PMID:26362312 20210923 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1312254 D RGD:150429748|PMID:33969575 20210923 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:686 liver carcinoma ameliorates ISO RGD:1312255 D RGD:150429711|PMID:24293323 20210921 RGD DNA:deletion:exons: 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312254 D RGD:150429973|PMID:24938620 20211008 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1312254 D RGD:150429700|PMID:29945346 20210917 RGD associated with oral squamous cell carcinoma 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:7240710 20200226 OMIM 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg-cinotti syndrome PMID:17103436|PMID:23637089|PMID:25741868|PMID:28492532|PMID:30449416 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1312255 D RGD:150429711|PMID:24293323 20210921 RGD associated with melanoma; 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1312254 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002331 Knee Osteoarthritis ameliorates IEP D RGD:150519887|PMID:31258642 20211013 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:1312255 D RGD:150519886|PMID:24819400 20211013 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:150429975|PMID:25975052 20211008 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312254 D RGD:150429713|PMID:21701781 20210921 RGD associated with melanoma; 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312255 D RGD:150429701|PMID:22071959 20210917 RGD associated with colon carcinoma 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1312254 D RGD:150429746|PMID:24556606 20210923 RGD associated with tongue squamous cell carcinoma; 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312254 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312254 D RGD:150429706|PMID:28476831 20210917 RGD 619855 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9261 nasopharynx carcinoma ISO RGD:1312254 D RGD:150429715|PMID:18023033 20210921 RGD mRNA:increased expression:epithelium of nasopharynx 619856 Trdn triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:7327227|PMID:22422768 20130917 RGD DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human) 619856 Trdn triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:22909776|PMID:23035052|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:28492532|PMID:30649896|PMID:31437535|PMID:9536098 619856 Trdn triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:9536098 619856 Trdn triadin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735791 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 619856 Trdn triadin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16199547|PMID:17576681|PMID:21520333|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:9536098 619856 Trdn triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:7240710 20140911 OMIM 619856 Trdn triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 PMID:16199547|PMID:17576681|PMID:22422768|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:9536098 619856 Trdn triadin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:735791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25650408|PMID:25741868|PMID:28492532 619856 Trdn triadin gene DOID:12930 dilated cardiomyopathy ISO RGD:735791 D RGD:7327229|PMID:17400717 20130917 RGD protein:decreased expression:heart 619856 Trdn triadin gene DOID:1826 epilepsy ISO RGD:735791 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 619856 Trdn triadin gene DOID:630 genetic disease ISO RGD:735791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619856 Trdn triadin gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735791 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:28492532 619856 Trdn triadin gene DOID:9775 diastolic heart failure ISO RGD:735791 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1603058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:1826 epilepsy ISO RGD:1603058 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:303 substance-related disorder ISO RGD:1603058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:630 genetic disease ISO RGD:1603058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603058 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:7240710 20201111 OMIM 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities PMID:25741868|PMID:27435318|PMID:28097321|PMID:28492532|PMID:32286009 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27435318|PMID:32286009 619857 Grm7 glutamate metabotropic receptor 7 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:0080855 Parkinsonism IDA D RGD:6771180|PMID:22546615 20120716 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:10283 prostate cancer ISO RGD:1350769 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:6484664|PMID:22138692 20120628 RGD DNA:deletion: : 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:11832 visual epilepsy IDA D RGD:6771182|PMID:17434465 20120716 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder ISO RGD:1350769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12676915 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350769 D RGD:1358645|PMID:12676915 19990101 RGD DNA:SNPs, haplotypes:intron 8, exon 10, 3'utr: (rs2237731, rs712723, rs1800656) (human) 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:1824 status epilepticus ISO RGD:731666 D RGD:6771183|PMID:17430409 20120716 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:1826 epilepsy IDA D RGD:6484665|PMID:17940877 20120628 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:2030 anxiety disorder ISO RGD:1350769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17434465 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:2377 multiple sclerosis ISO RGD:1350769 D RGD:6771187|PMID:15589052 20120717 RGD protein:increased expression:astrocyte, microglia, macrophage 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350769 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1350769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:5419 schizophrenia ISO RGD:1350769 D RGD:6484666|PMID:15211621 20120628 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:630 genetic disease ISO RGD:1350769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:9000998 Brain Injuries ISO RGD:1350769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:9001048 Nociceptive Pain ISO RGD:731666 D RGD:6771186|PMID:17113112 20120717 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:9002211 Hyperalgesia ISO RGD:731666 D RGD:6771186|PMID:17113112 20120717 RGD 619858 Grm8 glutamate metabotropic receptor 8 gene DOID:9007402 Gliosis ISO RGD:1350769 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11226630 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:10283 prostate cancer ISO RGD:735273 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:735273 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:735273 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:630 genetic disease ISO RGD:735273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29093066 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735273 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:735273 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735273 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9007980 Sleep Deprivation IEP D RGD:2313667|PMID:16923172 20091007 RGD mRNA:decreased expression:cerebral cortex 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:7240710 20130221 OMIM 619859 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:16199547|PMID:17576681|PMID:20022530|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29093066|PMID:9536098 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1350771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1350771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease IEP D RGD:5685370|PMID:17996024 20120301 RGD protein: decreased expression: brain 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:1350771 D RGD:5684916|PMID:22090514 20120104 RGD human gene in rat model 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:630 genetic disease ISO RGD:1350771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:5688380|PMID:10094932 20120229 RGD protein: decreased expression: mononuclear cells 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:61178 D RGD:5688373|PMID:18662895 20120229 RGD DNA: deletion: : homozygous 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13792782|PMID:23359120 20180927 RGD protein:increased expression:spinal cord, neuron, microglial cell (rat) 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792785|PMID:23196710 20180928 RGD 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1350771 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 61986 Grk6 G protein-coupled receptor kinase 6 gene DOID:9008394 Drug-Induced Dyskinesia IMP D RGD:5684919|PMID:20410529 20120104 RGD associated with Parkinson Disease 619860 Dynll2 dynein light chain LC8-type 2 gene DOID:0050777 Joubert syndrome ISO RGD:730979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 619860 Dynll2 dynein light chain LC8-type 2 gene DOID:1059 intellectual disability ISO RGD:730979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619860 Dynll2 dynein light chain LC8-type 2 gene DOID:630 genetic disease ISO RGD:730979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619861 Eif5 eukaryotic translation initiation factor 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 619861 Eif5 eukaryotic translation initiation factor 5 gene DOID:5419 schizophrenia ISO RGD:736122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 619861 Eif5 eukaryotic translation initiation factor 5 gene DOID:630 genetic disease ISO RGD:736122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619861 Eif5 eukaryotic translation initiation factor 5 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 619863 Gpr50 G protein-coupled receptor 50 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1346636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 619863 Gpr50 G protein-coupled receptor 50 gene DOID:0060041 autism spectrum disorder ISO RGD:1346636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 619863 Gpr50 G protein-coupled receptor 50 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 619863 Gpr50 G protein-coupled receptor 50 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1346636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 619863 Gpr50 G protein-coupled receptor 50 gene DOID:12849 autistic disorder ISO RGD:1346636 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619863 Gpr50 G protein-coupled receptor 50 gene DOID:630 genetic disease ISO RGD:1346636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:7240710 20230505 OMIM 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:731754 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:7240710 20230505 OMIM 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 PMID:25262651|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:32860008|PMID:34008892 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1059 intellectual disability ISO RGD:731754 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1206 Rett syndrome ISO RGD:731754 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12712 nephronophthisis ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12849 autistic disorder ISO RGD:731754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19002745 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1826 epilepsy ISO RGD:731754 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:630 genetic disease ISO RGD:731754 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:34055682|PMID:9536098 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:7240710 20230505 OMIM 619864 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25262651|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:34008892|PMID:35414446 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:0060319 cardiac arrest IEP D RGD:13208524|PMID:9522364 20170809 RGD 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:0080600 COVID-19 ISO RGD:731010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:10763 hypertension treatment IMP D RGD:13207430|PMID:24035314 20170728 RGD 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:1875 impotence treatment IMP D RGD:13207433|PMID:17433082 20170728 RGD 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:2316 brain ischemia ISO RGD:731010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9522364 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:13208524|PMID:9522364 20170809 RGD 619866 Dynll1 dynein light chain LC8-type 1 gene DOID:6000 congestive heart failure IEP D RGD:7257598|PMID:23832698 20170728 RGD protein:increased expression:paraventricular nucleus 619867 Nmur1 neuromedin U receptor 1 gene DOID:0060476 Perlman syndrome ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 619867 Nmur1 neuromedin U receptor 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 619867 Nmur1 neuromedin U receptor 1 gene DOID:630 genetic disease ISO RGD:1348049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:7240710 20230505 OMIM 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency PMID:10515893|PMID:25741868|PMID:28492532 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:10629 microphthalmia ISO RGD:736793 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:35123994 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:10763 hypertension ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:1485 cystic fibrosis ISO RGD:736793 D RGD:5134682|PMID:16690975 20110705 RGD 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:2773 contact dermatitis ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:5082 liver cirrhosis IMP D RGD:11049542|PMID:22942279 20160408 RGD 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:11049537|PMID:10733484 20160408 RGD DNA:missense mutation:cds: 473C>T (p.158L)(human) 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12598062 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:1302515|PMID:12598062 19990101 RGD DNA:snp:promoter:c.-129C>T (human) 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:7240710 20230505 OMIM 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12598062 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:630 genetic disease ISO RGD:736793 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:83 cataract ISS RGD:10652 D RGD:13592920 20180518 MouseDO OMIM:601371 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12598062 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736793 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury IMP D RGD:10402383|PMID:17573345 20151022 RGD 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19481141 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736793 D RGD:11554173 20190702 CTD CTD Direct Evidence: therapeutic PMID:30940545 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9008691 Liver Injury treatment IEP D RGD:10402380|PMID:24944771 20151022 RGD mRNA:decreased expression:liver: 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:736793 D RGD:10401929|PMID:24593045 20151022 RGD associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human) 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9252 amino acid metabolic disorder ISO RGD:736793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:736793 D RGD:11049536|PMID:8705999 20160408 RGD mRNA:increased expression:colon: 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:736793 D RGD:11554173 20200908 CTD CTD Direct Evidence: therapeutic PMID:32715377 619868 Gclc glutamate-cysteine ligase, catalytic subunit gene DOID:9675 pulmonary emphysema IDA D RGD:5134681|PMID:19879314 20110705 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:0050152 aspiration pneumonia IEP D RGD:4891456|PMID:19515386 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:0060496 respiratory allergy ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23056391 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:0080600 COVID-19 ISO RGD:1343759 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:5135004|PMID:19818401 20110708 RGD mRNA:increased expression:pancreatic acinar cell 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:10247 pleurisy ISO RGD:732415 D RGD:5135449|PMID:14527170 20110720 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:732415 D RGD:5135252|PMID:11254553 20110715 RGD mRNA, protein:increased expression:lung 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:1343759 D RGD:4145446|PMID:20395558 20110706 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:10533 viral pneumonia IEP D RGD:5134975|PMID:19671179 20110707 RGD protein:increased expression:respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:5134972|PMID:19951473 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:732415 D RGD:5134958|PMID:20843364 20110706 RGD mRNA:increased expression:blood 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:12930 dilated cardiomyopathy IEP D RGD:5134996|PMID:20868517 20110707 RGD mRNA:increased expression:left ventricle myocardium 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:14654 prostatitis treatment IEP D RGD:5134993|PMID:21254154 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:1485 cystic fibrosis ISO RGD:1343759 D RGD:5135034|PMID:20818377 20110711 RGD protein:increased expression:sputum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:1485 cystic fibrosis ISO RGD:732415 D RGD:5135034|PMID:20818377 20110711 RGD protein:increased expression:respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:1824 status epilepticus IEP D RGD:5134992|PMID:21535896 20110707 RGD protein:increased expression:brain, neuron, endothelial cell 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:2841 asthma severity ISO RGD:1343759 D RGD:5134983|PMID:20371397 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome IEP D RGD:4143520|PMID:19741068 20110708 RGD protein:increased expression:respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:3021 acute kidney failure ISO RGD:732415 D RGD:7175314|PMID:21677145 20110706 RGD mRNA:increased expression:kidney, liver, spleen 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343759 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343759 D RGD:4890939|PMID:20858153 20110706 RGD protein:increased expression:serum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:3482 plague ISO RGD:732415 D RGD:5134954|PMID:21356370 20110706 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:5041 esophageal cancer IEP D RGD:5134997|PMID:20232121 20110707 RGD protein:increased expression:serum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:552 pneumonia IEP D RGD:5134959|PMID:20728373 20110706 RGD mRNA, protein:increased expression:lung 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1343759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease IEP D RGD:4891456|PMID:19515386 20110707 RGD Lung Injury 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease IEP D RGD:5134956|PMID:21048090 20110706 RGD Ventilator-Induced Lung Injury;protein:increased expression:respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease IEP D RGD:5134960|PMID:20724665 20110706 RGD associated with Sepsis;protein:increased expression:plasma, respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease IEP D RGD:5134961|PMID:20709317 20110706 RGD associated with Pancreatitis;protein:increased expression:lung 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:4891479|PMID:19558673 20110707 RGD associated with Reperfusion Injury 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:5134978|PMID:19590302 20110707 RGD Acute Lung Injury;protein:increased expression:serum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:5134979|PMID:19056659 20110707 RGD associated with Pseudomonas Infections;mRNA:increased expression:lung 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:732415 D RGD:5135060|PMID:21743025 20110712 RGD associated with Pneumonia, Viral;protein:increased expression:respiratory system fluid/secretion, neutrophil 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:874 bacterial pneumonia IEP D RGD:5135234|PMID:11052817 20110714 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:874 bacterial pneumonia ISO RGD:732415 D RGD:5135062|PMID:21723409 20110712 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5135274|PMID:9698165 20110718 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:5134982|PMID:21109308 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:4145368|PMID:20731855 20110706 RGD mRNA:increased expression:lung 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000669 Ventricular Dysfunction, Right IEP D RGD:5135007|PMID:19620882 20110708 RGD associated with Pulmonary Embolism;mRNA:increased expression:heart right ventricle 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000722 Animal Hepatitis IEP D RGD:2307010|PMID:18642776 20110712 RGD mRNA:increased expression:liver 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9000998 Brain Injuries IEP D RGD:5135009|PMID:19471279 20110708 RGD mRNA:increased expression:choroid plexus, cerebral cortex 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1343759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:5135271|PMID:10498645 20110718 RGD mRNA:increased expression:liver 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001472 Nasal Polyps ISO RGD:1343759 D RGD:5134986|PMID:19178793 20110707 RGD associated with Sinusitis;mRNA:increased expression:respiratory system mucosa 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001488 Human Influenza ISO RGD:732415 D RGD:4145366|PMID:17348295 20110707 RGD protein:increased expression:lung, serum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001488 Human Influenza ISO RGD:732415 D RGD:4145452|PMID:20656925 20110706 RGD protein:increased expression:respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001600 Wounds and Injuries ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:5128673|PMID:21168948 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732415 D RGD:5134957|PMID:20958976 20110706 RGD protein:increased expression:respiratory system fluid/secretion 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:5134995|PMID:21092002 20110707 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:4889415|PMID:19096963 20110708 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:5135270|PMID:10655268 20110718 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732415 D RGD:5134970|PMID:20160675 20110707 RGD mRNA:increased expression:liver 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9004610 Acute Lung Injury ISO RGD:732415 D RGD:5135253|PMID:10069420 20110715 RGD associated with Sepsis;mRNA:increased expression:lung 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9005372 Inflammation IDA D RGD:4889403|PMID:19497959 20110708 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9005372 Inflammation IEP D RGD:5135240|PMID:8833037 20110714 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia ISO RGD:732415 D RGD:5135254|PMID:9766630 20110715 RGD mRNA:increased expression:multiple organs 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9007096 Stroke IEP D RGD:5134994|PMID:21124781 20110707 RGD mRNA:increased expression:brain 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9007156 Enteritis IEP D RGD:5135011|PMID:19148791 20110708 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1343759 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16118408 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9007730 Burns IEP D RGD:5135231|PMID:18391855 20110714 RGD protein:increased expression:serum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:5135269|PMID:11342480 20110718 RGD 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9008217 Hemorrhage IEP D RGD:5135001|PMID:20117814 20110708 RGD associated with Wounds, Penetrating 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9008763 Femoral Fractures IEP D RGD:5131471|PMID:21442011 20110706 RGD protein:increased expression:lung, serum 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1343759 D RGD:5135249|PMID:11950713 20110715 RGD protein:increased expression:plasma 619869 Cxcl1 C-X-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:732415 D RGD:5135245|PMID:17023518 20110715 RGD mRNA:increased expression:lung 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:7240710 20130221 OMIM 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:11034457|PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:22886422|PMID:24836451|PMID:25152457|PMID:25741868|PMID:25913727|PMID:26467025|PMID:26610677|PMID:26960553|PMID:28135894|PMID:28252636|PMID:28492532|PMID:28903583|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30214071|PMID:30348640|PMID:30838783|PMID:31847883|PMID:32404165|PMID:32579715|PMID:33087887|PMID:33758422|PMID:34055682|PMID:9536098 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:7240710 20141015 OMIM 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 1 PMID:11034457|PMID:11055895|PMID:14645240|PMID:16199547|PMID:19235232|PMID:20196394|PMID:22393170|PMID:24836451|PMID:25152457|PMID:25741868|PMID:26467025|PMID:26960553|PMID:28492532|PMID:29018476|PMID:32404165|PMID:33758422 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737224 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:1826 epilepsy ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:1909 melanoma ISO RGD:737224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:630 genetic disease ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22393170|PMID:25741868|PMID:28492532|PMID:29286531|PMID:31847883|PMID:33758422 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:737224 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:737224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 61987 Phgdh phosphoglycerate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:737224 D RGD:1600412|PMID:11055895 20070308 RGD PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M 619870 Ggt7 gamma-glutamyltransferase 7 gene DOID:2843 long QT syndrome ISO RGD:731694 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 619870 Ggt7 gamma-glutamyltransferase 7 gene DOID:630 genetic disease ISO RGD:731694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:10322 berylliosis ISO RGD:731551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16766924 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:5844 myocardial infarction ISO RGD:731551 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12081989|PMID:12975258 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:5844 myocardial infarction ISO RGD:731551 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12081989|PMID:12975258 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:5844 myocardial infarction susceptibility ISO RGD:731551 D RGD:7240710 20190502 OMIM 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:630 genetic disease ISO RGD:731551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:8725 vascular dementia susceptibility ISO RGD:731551 D RGD:10402374|PMID:17548779 20151022 RGD associated with stroke;DNA:polymorphism:promoter:-588C>T(human) 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:9004303 Tubulointerstitial Fibrosis IEP D RGD:5134352|PMID:21152904 20151022 RGD 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731551 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:9008691 Liver Injury IEP D RGD:10402380|PMID:24944771 20151022 RGD mRNA:decreased expression:liver: 619871 Gclm glutamate cysteine ligase, modifier subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:731551 D RGD:11554173 20200908 CTD CTD Direct Evidence: therapeutic PMID:32715377 619872 Lcn1 lipocalin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 619872 Lcn1 lipocalin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 619872 Lcn1 lipocalin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 619872 Lcn1 lipocalin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1344178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 619872 Lcn1 lipocalin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1344178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 619872 Lcn1 lipocalin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 619872 Lcn1 lipocalin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 619872 Lcn1 lipocalin 1 gene DOID:3652 Leigh disease ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 619872 Lcn1 lipocalin 1 gene DOID:630 genetic disease ISO RGD:1344178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619872 Lcn1 lipocalin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1344178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 619874 Cdkl3 cyclin-dependent kinase-like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619874 Cdkl3 cyclin-dependent kinase-like 3 gene DOID:630 genetic disease ISO RGD:731372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619874 Cdkl3 cyclin-dependent kinase-like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731372 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619874 Cdkl3 cyclin-dependent kinase-like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1342862 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1342862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:11162 respiratory failure ISO RGD:1342862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:13580 cholestasis ISO RGD:1342862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:630 genetic disease ISO RGD:1342862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1342862 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342862 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619875 Slc23a1 solute carrier family 23 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619876 Slc23a2 solute carrier family 23 member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 619876 Slc23a2 solute carrier family 23 member 2 gene DOID:13580 cholestasis ISO RGD:1353786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 619876 Slc23a2 solute carrier family 23 member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 619876 Slc23a2 solute carrier family 23 member 2 gene DOID:630 genetic disease ISO RGD:1353786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619876 Slc23a2 solute carrier family 23 member 2 gene DOID:9006302 Binge Drinking IEP D RGD:26884454|PMID:27085842 20200511 RGD 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:1346564 D RGD:2299071|PMID:7614395 20080811 RGD mRNA:increased expression:urinary bladder 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:1346564 D RGD:2299076|PMID:7693635 20080811 RGD 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:2349 arteriosclerosis ISO RGD:1346564 D RGD:2299058|PMID:17272673 20080811 RGD protein:decreased expression:artery 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:2394 ovarian cancer ISO RGD:1346564 D RGD:2299066|PMID:8519661 20080811 RGD protein:increased expression:endometrium 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:3307 teratoma ISO RGD:1346564 D RGD:2299072|PMID:7518576 20080811 RGD DNA:deletion 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:1346564 D RGD:2299073|PMID:7907945 20080811 RGD 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:6000 congestive heart failure ISO RGD:1346564 D RGD:5132888|PMID:11121795 20110606 RGD protein:increased expression:heart, left ventricle, sarcolemma (human) 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:8398 osteoarthritis ISO RGD:1346564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346564 D RGD:2299062|PMID:8855975 20080811 RGD associated with Cervix Neoplasms; associated with Endometrial Neoplasms 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1346564 D RGD:2299060|PMID:9334657 20080811 RGD mRNA:increased expression:testis 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9000965 Neoplasm Metastasis resistance IMP D RGD:2299081|PMID:8621239 20080812 RGD 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346564 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15674352 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9003566 Mesothelioma ISO RGD:1346564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1552274 D RGD:5132889|PMID:14623877 20110607 RGD protein:increased expression:tumor (mouse) 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346564 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619877 Nme2 NME/NM23 nucleoside diphosphate kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353723 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:7240710 20130221 OMIM 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder PMID:1547346|PMID:1586722|PMID:16412025|PMID:16567715|PMID:16671097|PMID:16740138|PMID:19157875|PMID:2001457|PMID:22348148|PMID:25741868|PMID:2715616|PMID:27848944|PMID:28492532|PMID:31175295|PMID:3840329|PMID:411673|PMID:4676843|PMID:5764452|PMID:6770677|PMID:6933565|PMID:7391028|PMID:7577653|PMID:8043870|PMID:9512313|PMID:9744480 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:12849 autistic disorder ISO RGD:1353723 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:1838 Menkes disease ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1353723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1353723 D RGD:1599123|PMID:16740138 20070117 RGD 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:630 genetic disease ISO RGD:1353723 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353723 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 619878 Pgk1 phosphoglycerate kinase 1 gene DOID:9006783 Young Syndrome ISO RGD:1353723 D RGD:8554872 20200804 ClinVar ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia 619879 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 619879 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 619879 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1826 epilepsy ISO RGD:733554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 619879 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733554 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 619879 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:733554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61988 Hivep2 HIVEP zinc finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 61988 Hivep2 HIVEP zinc finger 2 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:25741868 61988 Hivep2 HIVEP zinc finger 2 gene DOID:0060825 Christianson syndrome ISO RGD:734342 D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:25741868 61988 Hivep2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:7240710 20190315 OMIM 61988 Hivep2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:23020937|PMID:24033266|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:29758562 61988 Hivep2 HIVEP zinc finger 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 61988 Hivep2 HIVEP zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:734342 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 61988 Hivep2 HIVEP zinc finger 2 gene DOID:1059 intellectual disability ISS RGD:62280 D RGD:13592920 20190418 MouseDO 61988 Hivep2 HIVEP zinc finger 2 gene DOID:5419 schizophrenia ISS RGD:62280 D RGD:13592920 20180802 MouseDO OMIM:181500 61988 Hivep2 HIVEP zinc finger 2 gene DOID:630 genetic disease ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12527760|PMID:1567844|PMID:22294689|PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532 61988 Hivep2 HIVEP zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 61988 Hivep2 HIVEP zinc finger 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:734342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 619880 Nme7 NME/NM23 family member 7 gene DOID:0080600 COVID-19 ISO RGD:733959 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 619880 Nme7 NME/NM23 family member 7 gene DOID:10908 hydrocephalus ISS RGD:733960 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 619880 Nme7 NME/NM23 family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619880 Nme7 NME/NM23 family member 7 gene DOID:303 substance-related disorder ISO RGD:733959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 619880 Nme7 NME/NM23 family member 7 gene DOID:630 genetic disease ISO RGD:733959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619880 Nme7 NME/NM23 family member 7 gene DOID:758 situs inversus susceptibility ISO RGD:733960 D RGD:155630601|PMID:20080492 20221025 RGD 619880 Nme7 NME/NM23 family member 7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733959 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 619880 Nme7 NME/NM23 family member 7 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733959 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 619880 Nme7 NME/NM23 family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733959 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 619880 Nme7 NME/NM23 family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733959 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619881 Neu3 neuraminidase 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347886 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 619881 Neu3 neuraminidase 3 gene DOID:1059 intellectual disability ISO RGD:1347886 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619881 Neu3 neuraminidase 3 gene DOID:630 genetic disease ISO RGD:1347886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619881 Neu3 neuraminidase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1347886 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:0050439 Usher syndrome ISO RGD:732241 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:732241 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:12849 autistic disorder ISO RGD:732241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18492799 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732241 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:630 genetic disease ISO RGD:732241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:732241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 619882 Mark1 microtubule affinity regulating kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732241 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 619883 Mark3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:7240710 20190724 OMIM 619883 Mark3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi PMID:25741868|PMID:29771303 619883 Mark3 microtubule affinity regulating kinase 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 619883 Mark3 microtubule affinity regulating kinase 3 gene DOID:630 genetic disease ISO RGD:1353156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619883 Mark3 microtubule affinity regulating kinase 3 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 619884 Hipk3 homeodomain interacting protein kinase 3 gene DOID:1059 intellectual disability ISO RGD:731500 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619884 Hipk3 homeodomain interacting protein kinase 3 gene DOID:630 genetic disease ISO RGD:731500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619885 Ak3 adenylate kinase 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737588 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 619885 Ak3 adenylate kinase 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737588 D RGD:13842476|PMID:27078856 20190129 RGD protein:increased expression:peripheral blood mononuclear cell 619885 Ak3 adenylate kinase 3 gene DOID:630 genetic disease ISO RGD:737588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619885 Ak3 adenylate kinase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737588 D RGD:13842477|PMID:17203974 20190129 RGD protein:decreased expression:liver 619886 Tra2b transformer 2 beta gene DOID:0080600 COVID-19 ISO RGD:732515 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 619886 Tra2b transformer 2 beta gene DOID:4448 macular degeneration ISO RGD:732515 D RGD:11038792|PMID:24098751 20160225 RGD protein:increased expression:retina (human) 619886 Tra2b transformer 2 beta gene DOID:630 genetic disease ISO RGD:732515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619886 Tra2b transformer 2 beta gene DOID:678 progressive supranuclear palsy ISO RGD:732515 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 619887 Rps2 ribosomal protein S2 gene DOID:0060224 atrial fibrillation ISO RGD:732314 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 619887 Rps2 ribosomal protein S2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 619887 Rps2 ribosomal protein S2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 619887 Rps2 ribosomal protein S2 gene DOID:1826 epilepsy ISO RGD:732314 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 619887 Rps2 ribosomal protein S2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732314 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 619887 Rps2 ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:732314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619887 Rps2 ribosomal protein S2 gene DOID:9002669 Hypoxia ISO RGD:732314 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 619888 Rps3 ribosomal protein S3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 619888 Rps3 ribosomal protein S3 gene DOID:1059 intellectual disability ISO RGD:736568 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619888 Rps3 ribosomal protein S3 gene DOID:1909 melanoma ISO RGD:736568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 619888 Rps3 ribosomal protein S3 gene DOID:9003882 Chromosomal Instability ISO RGD:736568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 619889 Rps9 ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:734165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619889 Rps9 ribosomal protein S9 gene DOID:9007874 Liver Failure IEP D RGD:11040911|PMID:501300 20160316 RGD 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0050451 Brugada syndrome ISO RGD:1348352 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Brugada syndrome 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:19525294|PMID:19608030|PMID:19608031|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:30659708|PMID:30847666|PMID:31983221|PMID:9536098 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:1348352 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:5133276|PMID:19608031 20110613 RGD DNA:missense mutations:exon:p.P52A, p.T123M, p.I280V (human) 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28672880|PMID:31737537 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1348352 D RGD:1578366|PMID:14516314 19990101 RGD 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:5133277|PMID:19525294 20110613 RGD DNA:missense mutations:multiple (human) 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:27532257|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:9536098 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:18273862|PMID:19525294|PMID:19589340|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27114410|PMID:27143260|PMID:27532257|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30659708|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:2843 long QT syndrome ISO RGD:1348352 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:289 endometriosis ISO RGD:1348352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:3191 nemaline myopathy ISO RGD:1348352 D RGD:1578366|PMID:14516314 19990101 RGD 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:422 congenital structural myopathy ISO RGD:1348352 D RGD:1578366|PMID:14516314 19990101 RGD 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:4297 scimitar syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:19525294|PMID:19608031|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:630 genetic disease ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5133279|PMID:17610582 20110613 RGD mRNA:increased expression:spinal cord, dorsal root ganglion, neuron 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:9001600 Wounds and Injuries ISO RGD:62281 D RGD:5133280|PMID:15632022 20110614 RGD mRNA, protein:increased expression:multiple 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:9003936 Cardiomegaly IDA D RGD:1578370|PMID:10904011 19990101 RGD 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:5133278|PMID:19299913 20110613 RGD protein:decreased expression:myocardium 61989 Ankrd1 ankyrin repeat domain 1 gene DOID:9651 systolic heart failure ISO RGD:1348352 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 619890 Gpr149 G protein-coupled receptor 149 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346454 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 619890 Gpr149 G protein-coupled receptor 149 gene DOID:630 genetic disease ISO RGD:1346454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619891 Gpr83 G protein-coupled receptor 83 gene DOID:1059 intellectual disability ISO RGD:1352259 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619891 Gpr83 G protein-coupled receptor 83 gene DOID:630 genetic disease ISO RGD:1352259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:630 genetic disease ISO RGD:1348801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31395947 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348801 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:7240710 20200812 OMIM 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity PMID:25558065|PMID:25741868|PMID:27848944|PMID:28492532|PMID:29090338|PMID:29899372|PMID:31395947 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 619892 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 gene DOID:9008086 Developmental Disabilities ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28492532|PMID:31395947 619893 Plg plasminogen gene DOID:0060903 thrombosis ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532|PMID:34355501 619893 Plg plasminogen gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 619893 Plg plasminogen gene DOID:0080600 COVID-19 treatment ISO RGD:1343043 D RGD:30309215|PMID:32275753 20200619 RGD 619893 Plg plasminogen gene DOID:0080940 hereditary angioedema type III ISO RGD:1343043 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION PMID:33114181 619893 Plg plasminogen gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1343043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 619893 Plg plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:7240710 20130221 OMIM 619893 Plg plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysplasminogenemia | ClinVar Annotator: match by term: Plasminogen deficiency, type I PMID:10233898|PMID:12850227|PMID:12876630|PMID:12945885|PMID:1427790|PMID:15269832|PMID:16849641|PMID:17576681|PMID:1986355|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501|PMID:6216475|PMID:6238949|PMID:659588|PMID:8392398|PMID:9242524|PMID:9375744|PMID:9536098|PMID:9834305|PMID:9858247 619893 Plg plasminogen gene DOID:10159 osteonecrosis ISO RGD:1343043 D RGD:30309948|PMID:16547717 20200622 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 619893 Plg plasminogen gene DOID:10159 osteonecrosis ISO RGD:1343043 D RGD:30309951|PMID:16677567 20200622 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 619893 Plg plasminogen gene DOID:10754 otitis media ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otitis media, susceptibility to PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 619893 Plg plasminogen gene DOID:10763 hypertension ISO RGD:1343043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 619893 Plg plasminogen gene DOID:10976 membranous glomerulonephritis TAS D RGD:1299252|PMID:1645711 19990101 RGD 619893 Plg plasminogen gene DOID:14735 hereditary angioedema ISO RGD:1343043 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33799813|PMID:35100351 619893 Plg plasminogen gene DOID:1485 cystic fibrosis ISO RGD:1343043 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:17900274|PMID:18566672|PMID:28117099|PMID:9504411 619893 Plg plasminogen gene DOID:2213 hemorrhagic disease ISO RGD:1343043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:34355501 619893 Plg plasminogen gene DOID:2452 thrombophilia ISO RGD:1343043 D RGD:1601404|PMID:8392398 20070419 RGD DNA:point mutation:exon:S572P 619893 Plg plasminogen gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550861 D RGD:30310231|PMID:23919993 20200624 RGD protein:increased expression:lung (mouse) 619893 Plg plasminogen gene DOID:3021 acute kidney failure ISO RGD:1343043 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 619893 Plg plasminogen gene DOID:3490 Noonan syndrome ISO RGD:1343043 D RGD:13207331|PMID:20686427 20170726 RGD protein:decreased activity:blood: 619893 Plg plasminogen gene DOID:6195 conjunctivitis ISO RGD:1343043 D RGD:1601405|PMID:9242524 20070419 RGD ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X 619893 Plg plasminogen gene DOID:630 genetic disease ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619893 Plg plasminogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343043 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14716496 619893 Plg plasminogen gene DOID:9003871 Venous Thrombosis ISO RGD:1343043 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7215189 619893 Plg plasminogen gene DOID:9003871 Venous Thrombosis ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 619893 Plg plasminogen gene DOID:9004968 Yin Deficiency IEP D RGD:153350148|PMID:29729385 20220913 RGD protein:decreased expression:serum 619893 Plg plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:7240710 20210616 OMIM 619893 Plg plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 4 PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33114181|PMID:33799813|PMID:35100351 619893 Plg plasminogen gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343043 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 619893 Plg plasminogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343043 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 619893 Plg plasminogen gene DOID:9500 leukocyte disease ISO RGD:1343043 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30213540 619894 Pln phospholamban gene DOID:0050700 cardiomyopathy ISO RGD:1349244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 619894 Pln phospholamban gene DOID:0060224 atrial fibrillation ISO RGD:1349244 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 619894 Pln phospholamban gene DOID:0060319 cardiac arrest ISO RGD:1349244 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 619894 Pln phospholamban gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1349244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 619894 Pln phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:7240710 20140911 OMIM 619894 Pln phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:21735565|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 619894 Pln phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:7240710 20130425 OMIM 619894 Pln phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:21735565|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 619894 Pln phospholamban gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1349244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION PMID:12610310|PMID:16829191|PMID:21735565|PMID:28492532 619894 Pln phospholamban gene DOID:0112229 lissencephaly 10 ISO RGD:1349244 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:18241046|PMID:24033266|PMID:28492532 619894 Pln phospholamban gene DOID:1059 intellectual disability ISO RGD:1349244 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 619894 Pln phospholamban gene DOID:10907 microcephaly ISO RGD:1349244 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 619894 Pln phospholamban gene DOID:114 heart disease treatment IDA D RGD:7327178|PMID:23458196 20130913 RGD associated with Metabolic Syndrome X 619894 Pln phospholamban gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 619894 Pln phospholamban gene DOID:12849 autistic disorder ISO RGD:1349244 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 619894 Pln phospholamban gene DOID:12930 dilated cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 619894 Pln phospholamban gene DOID:14289 Ebstein anomaly ISO RGD:1349244 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 619894 Pln phospholamban gene DOID:14717 centronuclear myopathy ISS RGD:732405 D RGD:13592920 20180518 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 619894 Pln phospholamban gene DOID:1826 epilepsy ISO RGD:1349244 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 619894 Pln phospholamban gene DOID:5844 myocardial infarction ISO RGD:1349244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16026515|PMID:16162791 619894 Pln phospholamban gene DOID:5844 myocardial infarction treatment IDA D RGD:7327176|PMID:23781262 20130913 RGD 619894 Pln phospholamban gene DOID:6000 congestive heart failure treatment IDA D RGD:7327181|PMID:22970977 20130913 RGD associated with Hypertension 619894 Pln phospholamban gene DOID:6000 congestive heart failure treatment IDA D RGD:7327182|PMID:22947202 20130913 RGD associated with Myocardial Infarction 619894 Pln phospholamban gene DOID:9000495 Tremor ISO RGD:1349244 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 619894 Pln phospholamban gene DOID:9000564 Prehypertension IEP D RGD:7327185|PMID:22252398 20130913 RGD protein:decreased expression, decreased serine phosphorylation:superior cervical ganglion 619894 Pln phospholamban gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1349244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991071 619894 Pln phospholamban gene DOID:9002661 Diabetes Complications IEP D RGD:7327179|PMID:23443767 20130913 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm 619894 Pln phospholamban gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:7327207|PMID:22185592 20130917 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle 619894 Pln phospholamban gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 619894 Pln phospholamban gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:7327186|PMID:21934351 20130913 RGD 619894 Pln phospholamban gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349244 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 619894 Pln phospholamban gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7327183|PMID:22621761 20130913 RGD mRNA:decreased expression:heart left ventricle 619894 Pln phospholamban gene DOID:9767 myocardial stunning ISO RGD:1349244 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 619895 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:731938 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 619895 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:1059 intellectual disability ISO RGD:731938 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619895 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:1909 melanoma ISO RGD:731938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 619895 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:5419 schizophrenia ISO RGD:731938 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619895 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:630 genetic disease ISO RGD:731938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619896 Serpini1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:7240710 20130221 OMIM 619896 Serpini1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:11138927|PMID:11880376|PMID:12103288|PMID:15090543|PMID:17576681|PMID:18591508|PMID:18940798|PMID:19549782|PMID:21435071|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:26467025|PMID:28363799|PMID:28492532|PMID:28518168|PMID:28631894|PMID:29249370|PMID:32461654|PMID:9536098 619896 Serpini1 serpin family I member 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:731505 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 619896 Serpini1 serpin family I member 1 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:731505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 619896 Serpini1 serpin family I member 1 gene DOID:630 genetic disease ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 619896 Serpini1 serpin family I member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 619896 Serpini1 serpin family I member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12103288|PMID:18591508|PMID:18940798|PMID:19549782|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:28363799|PMID:28492532|PMID:28631894 619897 Serpini2 serpin family I member 2 gene DOID:0060479 Shwachman-Diamond syndrome ISS RGD:737029 D RGD:13592920 20180518 MouseDO OMIM:260400 619897 Serpini2 serpin family I member 2 gene DOID:630 genetic disease ISO RGD:737028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619898 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:0111041 glycogen storage disease IXb ISO RGD:735534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 619898 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:630 genetic disease ISO RGD:735534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619899 Setd4 SET domain containing 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 619899 Setd4 SET domain containing 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 619899 Setd4 SET domain containing 4 gene DOID:1588 thrombocytopenia ISO RGD:1353006 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 619899 Setd4 SET domain containing 4 gene DOID:630 genetic disease ISO RGD:1353006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619899 Setd4 SET domain containing 4 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1353006 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 619899 Setd4 SET domain containing 4 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1353006 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 61990 Csn3 casein kappa gene DOID:305 carcinoma ISO RGD:1349233 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61990 Csn3 casein kappa gene DOID:630 genetic disease ISO RGD:1349233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61990 Csn3 casein kappa gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349233 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 61990 Csn3 casein kappa gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1349233 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 61990 Csn3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 61990 Csn3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1349233 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:1624296|PMID:10080182 20070508 RGD DNA:deletion 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:7240710 20130221 OMIM 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:10080182|PMID:10080183|PMID:10631139|PMID:10655553|PMID:10737982|PMID:10980538|PMID:11377971|PMID:11544277|PMID:11883940|PMID:12402335|PMID:15756301|PMID:15776427|PMID:16199547|PMID:17530437|PMID:17576681|PMID:17666782|PMID:17764084|PMID:18716612|PMID:18846669|PMID:20301535|PMID:21110863|PMID:21716135|PMID:22325938|PMID:23430825|PMID:23542076|PMID:23772603|PMID:23940088|PMID:25326635|PMID:25419514|PMID:25614305|PMID:25640679|PMID:25741868|PMID:26865117|PMID:28028301|PMID:28492532|PMID:29058386|PMID:29795570|PMID:30054302|PMID:30832686|PMID:31014432|PMID:31211457|PMID:31427715|PMID:32249831|PMID:32542393|PMID:34095032|PMID:9536098|PMID:9829974 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17530437|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:630 genetic disease ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733448 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733448 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 619902 Slc7a7 solute carrier family 7 member 7 gene DOID:9252 amino acid metabolic disorder ISO RGD:733448 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11544277 619903 Ddx1 DEAD-box helicase 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 619903 Ddx1 DEAD-box helicase 1 gene DOID:13938 amenorrhea ISO RGD:737232 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 619903 Ddx1 DEAD-box helicase 1 gene DOID:303 substance-related disorder ISO RGD:737232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 619903 Ddx1 DEAD-box helicase 1 gene DOID:5419 schizophrenia ISO RGD:737232 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619903 Ddx1 DEAD-box helicase 1 gene DOID:5723 optic atrophy ISO RGD:737232 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 619903 Ddx1 DEAD-box helicase 1 gene DOID:630 genetic disease ISO RGD:737232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:10003 sensorineural hearing loss ISS RGD:733687 D RGD:13592920 20190801 MouseDO OMIM:304400 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:289 endometriosis ISO RGD:1345085 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:630 genetic disease ISO RGD:1345085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 619904 Slc7a8 solute carrier family 7 member 8 gene DOID:9007661 Dwarfism ISO RGD:1345085 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 619905 Slc7a9 solute carrier family 7 member 9 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 619905 Slc7a9 solute carrier family 7 member 9 gene DOID:557 kidney disease ISO RGD:734403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 619905 Slc7a9 solute carrier family 7 member 9 gene DOID:630 genetic disease ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619905 Slc7a9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:7240710 20130221 OMIM 619905 Slc7a9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:737767|PMID:10471498 19990101 RGD DNA:missense mutations, nonsense mutations:cds:multiple (human) 619905 Slc7a9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria PMID:10471498|PMID:11013083|PMID:11157794|PMID:11260385|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12234930|PMID:12239244|PMID:12371955|PMID:12820697|PMID:15635077|PMID:15670723|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:16609684|PMID:16834950|PMID:16838140|PMID:17539912|PMID:17576681|PMID:18414213|PMID:18947684|PMID:19782624|PMID:21255007|PMID:21677404|PMID:21681106|PMID:22480232|PMID:23532419|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25599739|PMID:25741868|PMID:25964309|PMID:26123750|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:32133030|PMID:33349102|PMID:33377691|PMID:33532864|PMID:6031738|PMID:9536098 619906 Ddx5 DEAD-box helicase 5 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345493 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 619906 Ddx5 DEAD-box helicase 5 gene DOID:289 endometriosis ISO RGD:1345493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 619906 Ddx5 DEAD-box helicase 5 gene DOID:3151 skin squamous cell carcinoma ISO RGD:1345493 D RGD:9850272|PMID:22548649 20150403 RGD protein:increased expression:foreskin (human) 619906 Ddx5 DEAD-box helicase 5 gene DOID:630 genetic disease ISO RGD:1345493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619906 Ddx5 DEAD-box helicase 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1345493 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 619907 Serbp1 Serpine1 mRNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1606807 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 619907 Serbp1 Serpine1 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619907 Serbp1 Serpine1 mRNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 619907 Serbp1 Serpine1 mRNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050469 Costello syndrome ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050469 Costello syndrome ISO RGD:735645 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050700 cardiomyopathy ISO RGD:735645 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24728327|PMID:25741868|PMID:26260725|PMID:26530882|PMID:26580448|PMID:26848617|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:735645 D RGD:11567230|PMID:24500602 20161202 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050894 ameloblastoma ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:17603483|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16439621|PMID:17703371 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735645 D RGD:1600471|PMID:16474404 20140219 RGD DNA:mutations:cds:multiple(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16772349|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17374713|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19953625|PMID:20008640|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20523244|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23875798|PMID:23907581|PMID:23918947|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24283439|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:27521173|PMID:28404629|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28854169|PMID:28891408|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29493581|PMID:29533785|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30094826|PMID:30290804|PMID:30581057|PMID:30820351|PMID:30986545|PMID:31263281|PMID:31277584|PMID:31474318|PMID:31560489|PMID:31779674|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33683002|PMID:34476331|PMID:4386970|PMID:5771505|PMID:8042262 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735646 D RGD:11352608|PMID:25035421 20161205 RGD DNA:mutation:cds:p.Q241R(mouse) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735646 D RGD:11567236|PMID:21383153 20161202 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16804887|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20186801|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21063443|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24803665|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28687512|PMID:28911804|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31560489|PMID:32978145|PMID:33040082|PMID:33522658|PMID:34573299 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:7240710 20130221 OMIM 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 7 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:20186801|PMID:20224900|PMID:20301557|PMID:20350999|PMID:20395089|PMID:21062266|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26619011|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28650561|PMID:28687512|PMID:28783719|PMID:29522538|PMID:29540830|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31336229|PMID:31560489|PMID:32978145|PMID:33040082|PMID:33522658|PMID:34573299 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:7240710 20130221 OMIM 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 3 PMID:12068308|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15578519|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:19206169|PMID:19376813|PMID:19416762|PMID:20301557|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26260725|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30290804|PMID:30581057|PMID:30986545|PMID:31560489 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11313766|PMID:12068308|PMID:12198537|PMID:12414817|PMID:12438234|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16611712|PMID:16619251|PMID:16804887|PMID:16825433|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20619739|PMID:20735442|PMID:20818844|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21129611|PMID:21135229|PMID:21204800|PMID:21483012|PMID:21639808|PMID:21784453|PMID:21871821|PMID:22048237|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22356324|PMID:22495831|PMID:22538770|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22675565|PMID:22698809|PMID:22735384|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22907230|PMID:22972589|PMID:23020132|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23833300|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27799065|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31158244|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31560489|PMID:31785789|PMID:32005694|PMID:3265306|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33683002|PMID:34573299|PMID:8042262|PMID:9536098 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:735645 D RGD:8554872 20180522 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:7240710 20191106 OMIM 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:11313766|PMID:12068308|PMID:15035987|PMID:16007634|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17314276|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20859831|PMID:2102266|PMID:21063443|PMID:21129611|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22538770|PMID:22698809|PMID:22876591|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28947956|PMID:29084544|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29907801|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31263281|PMID:31474318|PMID:31560489|PMID:3265306|PMID:33040082|PMID:33683002|PMID:34113008|PMID:4386970|PMID:5771505 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12068308|PMID:12198537|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19206169|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29595366 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:735645 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1089 tethered spinal cord syndrome ISO RGD:735645 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Occult spinal dysraphism sequence PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:11294 arteriovenous malformation ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:17366577|PMID:25741868|PMID:26795593 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16439621|PMID:16474404|PMID:18039235|PMID:18413255|PMID:18953432|PMID:19206169|PMID:22495831|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25348715|PMID:25741868|PMID:26732095|PMID:27276561|PMID:28492532|PMID:28524057|PMID:28947956|PMID:31475041 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:12716 newborn respiratory distress syndrome ISO RGD:735645 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17704260|PMID:18042262|PMID:19206169|PMID:19416762|PMID:20301557|PMID:22190897|PMID:23763990|PMID:23950000|PMID:24033266|PMID:25741868|PMID:28404629|PMID:28492532|PMID:30820351 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:20008640|PMID:20130576|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24926260|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29752777|PMID:29925953|PMID:30732632|PMID:31277584|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33522658|PMID:34476331|PMID:8042262 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1475 lymphangioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphangioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18060073|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma treatment ISO RGD:735645 D RGD:11567267|PMID:22319199 20161205 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:162 cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1657 ventricular septal defect ISO RGD:735645 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:169 neuroendocrine tumor ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17341847 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735645 D RGD:13461863|PMID:22871572 20171205 RGD human gene in a mouse model 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735646 D RGD:13462040|PMID:22628411 20171206 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735646 D RGD:13451537|PMID:18490924 20171116 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:18421705|PMID:19282848|PMID:20973932|PMID:21499247|PMID:21606968|PMID:21639808|PMID:21656352|PMID:21770473|PMID:21802280|PMID:22535842|PMID:22842228|PMID:23237741|PMID:23432625|PMID:23584600|PMID:23587417|PMID:24154489|PMID:25043973|PMID:26192916|PMID:26214590|PMID:27222248|PMID:27689874|PMID:29426936|PMID:29574239|PMID:31580832 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:151660349|PMID:25393105 20220304 RGD associated with Neoplasm Metastasis; DNA:mutation:multiple (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:1580103|PMID:16424035 19990101 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20130576|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21750866|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23248257|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24710085|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24918823|PMID:24920063|PMID:24926260|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:2872605|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29533785|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30732632|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31475041|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33522658|PMID:33683002|PMID:34476331|PMID:8042262 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma onset ISO RGD:735645 D RGD:11567259|PMID:25623140 20161205 RGD DNA:mutations: : 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma treatment ISO RGD:735645 D RGD:11567267|PMID:22319199 20161205 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2154 nephroblastoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma ISO RGD:735645 D RGD:2315868|PMID:19079609 20100114 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:15035987|PMID:16187918|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21129611|PMID:21483012|PMID:21639808|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22663011|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:23273605|PMID:23715574|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24451042|PMID:24920063|PMID:2493360|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:28832562|PMID:29907801 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2571 Langerhans-cell histiocytosis ISS RGD:735646 D RGD:13592920 20180830 MouseDO OMIM:246400 | OMIM:604856 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2661 myoepithelioma ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:15016963|PMID:15753399|PMID:19404918|PMID:21750866|PMID:24033266|PMID:25157968 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2671 transitional cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16439621|PMID:16474404|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17603483|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22180495|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366|PMID:29907801 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2679 dysembryoplastic neuroepithelial tumor ISO RGD:735645 D RGD:11567238|PMID:25346165 20161202 RGD DNA:mutation:cds:p.V600E(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2785 Dandy-Walker syndrome ISO RGD:735645 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:735645 D RGD:13432166|PMID:16144912 20170922 RGD DNA:missense mutations, nonsense mutation:cds:multiple (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:735645 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:11069832|PMID:19794125 20161205 RGD DNA:rearrangement: : 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma onset ISO RGD:735645 D RGD:11567238|PMID:25346165 20161202 RGD DNA:mutation:cds:p.V600E(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3121 gallbladder cancer ISO RGD:735645 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Gallbladder cancer 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3304 germinoma ISO RGD:735645 D RGD:2315865|PMID:19289622 20100114 RGD DNA:missense mutation:exon:p.V600E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28911804|PMID:28947956|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:3265306|PMID:33040082 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19953625|PMID:20186801|PMID:20224900|PMID:20395089|PMID:20523244|PMID:20859831|PMID:21062266|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28947956|PMID:29522538|PMID:29540830|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:31785789|PMID:32005694|PMID:3265306|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:363 uterine cancer ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3840 craniopharyngioma ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413733 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3905 lung carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30290804|PMID:30581057|PMID:31277584|PMID:31560489|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:15035987|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21062266|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29907801|PMID:31336229 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735645 D RGD:5133242|PMID:20951313 20110608 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735645 D RGD:5133243|PMID:21277552 20110608 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735645 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14681681|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19363522|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:19794125|PMID:19913317|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21190184|PMID:21204800|PMID:21343559|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21716161|PMID:21750866|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22535154|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22135231|PMID:26463840 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23585556 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:12068308|PMID:14612909|PMID:14679157|PMID:14688025|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:22310681|PMID:23352452|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29595366 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma IMP D RGD:32716372|PMID:31953036 20200625 RGD DNA:missense mutation:cds;p.V600E(rat) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735645 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27222248|PMID:28030816 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NONMEDULLARY THYROID CARCINOMA, PAPILLARY PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma onset ISO RGD:735645 D RGD:7241798|PMID:22702340 20161205 RGD DNA:mutation:cds:p.V600E(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735645 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma onset ISO RGD:735645 D RGD:11567238|PMID:25346165 20161205 RGD DNA:mutation:cds:p.V600E(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity IAGP D RGD:14398746|PMID:24139215 20200128 RGD DNA:missense mutation:cds:p.V600E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma IAGP D RGD:11073239|PMID:12692057 20200128 RGD DNA:missense mutation:cds:p.V600E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5078 ganglioglioma ISO RGD:735645 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Childhood ganglioglioma PMID:19363522|PMID:19794125|PMID:21190184|PMID:21343559|PMID:21716161|PMID:22535154|PMID:24033266 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma IAGP D RGD:11521169|PMID:25704541 20200117 RGD DNA:missense mutation:cds:p.V600E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31775759|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma ISO RGD:735645 D RGD:13462041|PMID:25266736 20171206 RGD DNA:missense mutation, gene fusions:multiple (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035987|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20859831|PMID:21063443|PMID:21784453|PMID:22301711|PMID:22495831|PMID:22876591|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23875798|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25337068|PMID:25463315|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27391121|PMID:27478040|PMID:28492532|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28947956|PMID:29540830|PMID:30986545|PMID:31474318|PMID:3265306|PMID:34573299|PMID:4386970|PMID:5771505 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:6420 pulmonary valve stenosis ISO RGD:735645 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:6536 plasma cell neoplasm ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:735645 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27222248 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8541 Sezary's disease ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:735645 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000027 Microsatellite Instability ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:735645 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000625 Nonseminomatous Germ Cell Tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:735645 D RGD:7240710 20210303 OMIM 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000965 Neoplasm Metastasis onset ISO RGD:735645 D RGD:11567259|PMID:25623140 20161205 RGD associated with Melanoma; DNA:mutations: : 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:735645 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12068308|PMID:12198537|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18060073|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19206169|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21062266|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:23680146|PMID:24033266|PMID:24451042|PMID:25155755|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29595366 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735645 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:25735316|PMID:29610475 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:735645 D RGD:2298686|PMID:18060073 20080715 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:735645 D RGD:2315855|PMID:19955937 20100113 RGD DNA:missense mutation:exon:p.V599E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:14681681|PMID:15001635|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002883 Aortic Aneurysm, Giant Congenital ISO RGD:735645 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, giant congenital PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus ISO RGD:735645 D RGD:11567234|PMID:25490715 20161202 RGD DNA:mutation:cds:p.V600E(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus no_association ISO RGD:735645 D RGD:11567261|PMID:14984580 20161205 RGD DNA:mutation: :T1796A(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003507 Premature Birth ISO RGD:735645 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Premature birth PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003571 Paraproteinemias ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003806 PHACE Association ISO RGD:735645 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: PHACES association PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004118 Experimental Melanoma ISO RGD:735645 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29179997|PMID:29438700 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735645 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:16940797|PMID:19878585|PMID:21185263|PMID:26751190|PMID:30621213|PMID:30935902 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms treatment ISO RGD:735645 D RGD:11567260|PMID:21355020 20161205 RGD 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:12068308|PMID:12460918|PMID:12460919|PMID:14679157|PMID:15035987|PMID:16439621|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18368129|PMID:18413255|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19913317|PMID:20186801|PMID:20301365|PMID:21483012|PMID:21871821|PMID:22495831|PMID:22649091|PMID:23093928|PMID:23833300|PMID:23907581|PMID:24033266|PMID:24918823|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26582644|PMID:26619011|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:735645 D RGD:7240710 20130221 OMIM 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005446 Mandibular Neoplasms ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735645 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:21639808|PMID:22048237|PMID:22663011|PMID:22972589|PMID:24033266|PMID:25157968|PMID:26619011 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis IAGP D RGD:14696791|PMID:28787433 20200128 RGD associated with skin melanoma;DNA:missense mutations:cds: 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity IAGP D RGD:11554843|PMID:26775732 20200128 RGD associated with colorectal cancer;DNA:mutations:multiple 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity IAGP D RGD:15039394|PMID:23010994 20200117 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity IAGP D RGD:18337264|PMID:27737491 20200117 RGD associated with colorectal cancer;DNA:mutation:cds: 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity IAGP D RGD:18337265|PMID:22331825 20200117 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:735645 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17514646 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18368129|PMID:18398503|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007702 Carcinogenesis ISO RGD:735645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24717435 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008086 Developmental Disabilities ISO RGD:735645 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735645 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:18718023|PMID:25280562|PMID:25701956|PMID:27222248 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735645 D RGD:2298531|PMID:18098337 20090427 RGD DNA:mutation:cds:p.V600E(human) 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20141835|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:12068308|PMID:15035987|PMID:17314276|PMID:18039235|PMID:18413255|PMID:19376813|PMID:19593635|PMID:2102266|PMID:22538770|PMID:23680146|PMID:23907581|PMID:24033266|PMID:25155755|PMID:25157968|PMID:25741868|PMID:28492532 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:7240710 20210303 OMIM 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735645 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 619908 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:2493360|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 619909 Haus1 HAUS augmin-like complex, subunit 1 gene DOID:0060356 Vici syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 619909 Haus1 HAUS augmin-like complex, subunit 1 gene DOID:1059 intellectual disability ISO RGD:1346730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 619909 Haus1 HAUS augmin-like complex, subunit 1 gene DOID:630 genetic disease ISO RGD:1346730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619909 Haus1 HAUS augmin-like complex, subunit 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1346730 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737070 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:737070 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:7240710 20190315 OMIM 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy PMID:11532960|PMID:11877377|PMID:16199547|PMID:16273072|PMID:16604071|PMID:17221863|PMID:17273969|PMID:17576681|PMID:18414213|PMID:18996922|PMID:19052029|PMID:19701948|PMID:19842212|PMID:20358602|PMID:20635401|PMID:22106055|PMID:22140011|PMID:23551878|PMID:23683030|PMID:24088041|PMID:24124034|PMID:24461912|PMID:24756084|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25574841|PMID:25741868|PMID:26354354|PMID:26358754|PMID:26386245|PMID:26467025|PMID:26633545|PMID:26752331|PMID:27159028|PMID:27171548|PMID:27334371|PMID:28166369|PMID:28425213|PMID:28492532|PMID:28548707|PMID:28826797|PMID:30158690|PMID:30847515|PMID:30871455|PMID:31098032|PMID:31157197|PMID:31334757|PMID:31602316|PMID:31785789|PMID:32238909|PMID:33619735|PMID:9536098 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:737070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CDL PMID:18414213 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:1059 intellectual disability ISO RGD:737070 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:10907 microcephaly ISO RGD:737070 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16604071|PMID:17273969|PMID:24124034|PMID:25125236|PMID:25741868|PMID:28425213|PMID:28492532 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:11054 urinary bladder cancer ISO RGD:737070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:737070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:737070 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:12849 autistic disorder ISO RGD:737070 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:1826 epilepsy ISO RGD:737070 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:6000 congestive heart failure disease_progression ISO RGD:737070 D RGD:155630627|PMID:33779075 20221026 RGD DNA:mutations: : 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:607 paraplegia ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:630 genetic disease ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11532960|PMID:16604071|PMID:17273969|PMID:17576681|PMID:18414213|PMID:19701948|PMID:20635401|PMID:23551878|PMID:24124034|PMID:24756084|PMID:25125236|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27159028|PMID:28425213|PMID:28492532|PMID:33619735|PMID:9536098 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:8692 myeloid leukemia ISO RGD:737070 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9001510 Funnel Chest ISO RGD:737070 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:737070 D RGD:8554872 20150512 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:25574841 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737070 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9004603 Atkin Syndrome ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9006534 Nervous System Malformations ISO RGD:737070 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737070 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9008619 Developmental and Epileptic Encephalopathy 85 ISO RGD:737070 D RGD:7240710 20200429 OMIM 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9008619 Developmental and Epileptic Encephalopathy 85 ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects PMID:17273969|PMID:19701948|PMID:25741868|PMID:26358754|PMID:26386245|PMID:26752331|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:30158690|PMID:31334757 61991 Smc1a structural maintenance of chromosomes 1A gene DOID:9352 type 2 diabetes mellitus IEP D RGD:155631260|PMID:33775663 20221027 RGD mRNA:increased expression:testis: 619910 Dynlrb1 dynein light chain roadblock-type 1 gene DOID:2843 long QT syndrome ISO RGD:734301 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 619910 Dynlrb1 dynein light chain roadblock-type 1 gene DOID:630 genetic disease ISO RGD:734301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619910 Dynlrb1 dynein light chain roadblock-type 1 gene DOID:684 hepatocellular carcinoma ISO RGD:734301 D RGD:13208527|PMID:11750132 20170809 RGD 619911 Gorasp2 golgi reassembly stacking protein 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736034 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 619911 Gorasp2 golgi reassembly stacking protein 2 gene DOID:630 genetic disease ISO RGD:736034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619912 Ube2d3 ubiquitin-conjugating enzyme E2D 3 gene DOID:3633 beta-mannosidosis ISO RGD:1344235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 619913 Tekt1 tektin 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732609 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 619913 Tekt1 tektin 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:732609 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 619913 Tekt1 tektin 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 619913 Tekt1 tektin 1 gene DOID:12177 common variable immunodeficiency ISO RGD:732609 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 619913 Tekt1 tektin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:732609 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 619913 Tekt1 tektin 1 gene DOID:630 genetic disease ISO RGD:732609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619914 Sorl1 sortilin related receptor 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:1322123 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 619914 Sorl1 sortilin related receptor 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:0080690 RASopathy ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1322123 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Alzheimer disease 9 PMID:28789839 619914 Sorl1 sortilin related receptor 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1322123 D RGD:9068941 20220825 RGD PMID:15313836|REF_RGD_ID:1581303 619914 Sorl1 sortilin related receptor 1 gene DOID:13580 cholestasis ISO RGD:1322123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 619914 Sorl1 sortilin related receptor 1 gene DOID:5419 schizophrenia ISO RGD:1322123 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619914 Sorl1 sortilin related receptor 1 gene DOID:630 genetic disease ISO RGD:1322123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619914 Sorl1 sortilin related receptor 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322123 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 619914 Sorl1 sortilin related receptor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322123 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 619914 Sorl1 sortilin related receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 619914 Sorl1 sortilin related receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1322123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 619914 Sorl1 sortilin related receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1322123 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 619915 Qdpr quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:7240710 20130221 OMIM 619915 Qdpr quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency PMID:10408783|PMID:11153907|PMID:11694255|PMID:16199547|PMID:17576681|PMID:19099731|PMID:2116088|PMID:21890392|PMID:23138986|PMID:24033266|PMID:25124972|PMID:25155776|PMID:25741868|PMID:26006720|PMID:26589311|PMID:27246466|PMID:28492532|PMID:30109838|PMID:30221392|PMID:32905092|PMID:33822819|PMID:33903016|PMID:7627180|PMID:8326489|PMID:8518287|PMID:9341885|PMID:9536098|PMID:9744478 619915 Qdpr quinoid dihydropteridine reductase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734380 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 619915 Qdpr quinoid dihydropteridine reductase gene DOID:10763 hypertension IEP D RGD:5128580|PMID:19743417 20110309 RGD protein:decreased expression:aorta smooth muscle (rat) 619915 Qdpr quinoid dihydropteridine reductase gene DOID:1824 status epilepticus IEP D RGD:5128581|PMID:17366478 20110309 RGD protein:increased expression:hippocampus (rat) 619915 Qdpr quinoid dihydropteridine reductase gene DOID:630 genetic disease ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619915 Qdpr quinoid dihydropteridine reductase gene DOID:9004590 Acute Liver Failure ISO RGD:734380 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 619915 Qdpr quinoid dihydropteridine reductase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5128601|PMID:2758679 20110311 RGD protein:decreased activity:brain (rat) 619915 Qdpr quinoid dihydropteridine reductase gene DOID:9008914 Lead Poisoning IEP D RGD:5128598|PMID:2359144 20110311 RGD protein:increased activity:brain, caudate nucleus (rat) 619915 Qdpr quinoid dihydropteridine reductase gene DOID:9281 phenylketonuria ISO RGD:734380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 619915 Qdpr quinoid dihydropteridine reductase gene DOID:9281 phenylketonuria ISO RGD:734380 D RGD:1601577|PMID:2116088 20070425 RGD quinoid dihydropteridine reductase deficiency; DNA:insertion:exon:c.390insACT 619915 Qdpr quinoid dihydropteridine reductase gene DOID:9281 phenylketonuria ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 PMID:25741868|PMID:28492532|PMID:8326489 619916 Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 619916 Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1354001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619917 Pcdh12 protocadherin 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619917 Pcdh12 protocadherin 12 gene DOID:0111510 Marshall syndrome ISO RGD:1348823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 619917 Pcdh12 protocadherin 12 gene DOID:630 genetic disease ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 619917 Pcdh12 protocadherin 12 gene DOID:7765 Coats disease ISO RGD:1348823 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 619917 Pcdh12 protocadherin 12 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1348823 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome PMID:22822038|PMID:25741868|PMID:30178464 619917 Pcdh12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:7240710 20191106 OMIM 619917 Pcdh12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 619917 Pcdh12 protocadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 619917 Pcdh12 protocadherin 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619918 Spon1 spondin 1 gene DOID:0080600 COVID-19 ISO RGD:1343453 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619918 Spon1 spondin 1 gene DOID:1059 intellectual disability ISO RGD:1343453 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619918 Spon1 spondin 1 gene DOID:630 genetic disease ISO RGD:1343453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619919 Arid4b AT-rich interaction domain 4B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 619919 Arid4b AT-rich interaction domain 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1604359 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 619919 Arid4b AT-rich interaction domain 4B gene DOID:630 genetic disease ISO RGD:1604359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619919 Arid4b AT-rich interaction domain 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604359 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0080600 COVID-19 ISO RGD:1345739 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10825351 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:7240710 20130221 OMIM 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia PMID:10078749|PMID:10208576|PMID:10457396|PMID:10496263|PMID:10732814|PMID:10825351|PMID:10984670|PMID:10987649|PMID:11026444|PMID:11113234|PMID:11359069|PMID:11486899|PMID:12112113|PMID:12391354|PMID:12473771|PMID:12707079|PMID:12874420|PMID:1449240|PMID:15303002|PMID:15389992|PMID:15753436|PMID:15852365|PMID:16199547|PMID:16289769|PMID:16917893|PMID:17044972|PMID:17101830|PMID:17111153|PMID:17557242|PMID:17576681|PMID:17804835|PMID:17898029|PMID:18044725|PMID:18276179|PMID:18554280|PMID:18587264|PMID:18752196|PMID:19234759|PMID:19332422|PMID:19491146|PMID:19566901|PMID:20082337|PMID:20108370|PMID:20187889|PMID:20437540|PMID:20491893|PMID:20818608|PMID:20842687|PMID:20937667|PMID:21412842|PMID:21935284|PMID:22373569|PMID:23211702|PMID:23430498|PMID:23762320|PMID:24033266|PMID:24255805|PMID:24474670|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25181484|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25557619|PMID:25640679|PMID:25741868|PMID:26230973|PMID:26400349|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27313105|PMID:27619486|PMID:27666935|PMID:28397219|PMID:28492532|PMID:28582483|PMID:28958832|PMID:29290055|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:30911941|PMID:31130284|PMID:31178337|PMID:31213404|PMID:33713342|PMID:33875303|PMID:34054692|PMID:34426522|PMID:35083481|PMID:7544125|PMID:7730309|PMID:7874165|PMID:8298648|PMID:8619546|PMID:8852666|PMID:9120469|PMID:9328244|PMID:9536098|PMID:9566388|PMID:9576537|PMID:9585358|PMID:9626769|PMID:9667588|PMID:9749603|PMID:9778264|PMID:9886460 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345739 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:7240710 20130221 OMIM 61992 Gch1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B PMID:10496263|PMID:12391354|PMID:12707079|PMID:12874420|PMID:15303002|PMID:15389992|PMID:15852365|PMID:17044972|PMID:17101830|PMID:17576681|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:20842687|PMID:22373569|PMID:23430498|PMID:24033266|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27246466|PMID:27313105|PMID:28492532|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:31213404|PMID:33713342|PMID:34054692|PMID:35083481|PMID:7730309|PMID:7869202|PMID:8852666|PMID:9328244|PMID:9536098|PMID:9667588|PMID:9886460 61992 Gch1 GTP cyclohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1345739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30314816|PMID:34426522|PMID:9667588 61992 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12855421 61992 Gch1 GTP cyclohydrolase 1 gene DOID:1826 epilepsy ISO RGD:1345739 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 61992 Gch1 GTP cyclohydrolase 1 gene DOID:3312 bipolar disorder ISO RGD:1345739 D RGD:1601281|PMID:15909293 20070413 RGD DNA:polymorphism 61992 Gch1 GTP cyclohydrolase 1 gene DOID:535 sleep disorder ISO RGD:1345739 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 61992 Gch1 GTP cyclohydrolase 1 gene DOID:543 dystonia ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15389992 61992 Gch1 GTP cyclohydrolase 1 gene DOID:543 dystonia ISO RGD:1345739 D RGD:1601280|PMID:7874165 20070413 RGD dopa-responsive dystonia,OMIM:128230;DNA:point mutations:R88W,D134V 61992 Gch1 GTP cyclohydrolase 1 gene DOID:543 dystonia ISO RGD:1345739 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Dystonic disorder 61992 Gch1 GTP cyclohydrolase 1 gene DOID:630 genetic disease ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12391354|PMID:15303002|PMID:17044972|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:23430498|PMID:24993959|PMID:25181484|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:35083481|PMID:8852666|PMID:9566388|PMID:9667588|PMID:9778264|PMID:9886460 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9000641 Pain ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19081190 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9000831 Hypokinesia ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9001480 Muscle Rigidity ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive PMID:10987649|PMID:12112113|PMID:12391354|PMID:12552057|PMID:1449240|PMID:15303002|PMID:15753436|PMID:16917893|PMID:17044972|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:21412842|PMID:23430498|PMID:24993959|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:34426522|PMID:35083481|PMID:8298648|PMID:8852666|PMID:9667588|PMID:9886460 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1345739 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15659429 61992 Gch1 GTP cyclohydrolase 1 gene DOID:9281 phenylketonuria ISO RGD:1345739 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:15389992|PMID:19491146|PMID:24993959|PMID:25125585|PMID:25398234|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:28492532|PMID:30314816 619920 Ddx39a DExD-box helicase 39A gene DOID:630 genetic disease ISO RGD:1350107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619921 Rhoa ras homolog family member A gene DOID:0050665 fetal alcohol syndrome IEP D RGD:2298867|PMID:17109064 20080729 RGD protein:increased activation:neuron, cerebellum 619921 Rhoa ras homolog family member A gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 619921 Rhoa ras homolog family member A gene DOID:0060001 withdrawal disorder ISO RGD:1347797 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 619921 Rhoa ras homolog family member A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347797 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 619921 Rhoa ras homolog family member A gene DOID:0060852 Pierson syndrome ISO RGD:1347797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 619921 Rhoa ras homolog family member A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24584070 619921 Rhoa ras homolog family member A gene DOID:10763 hypertension IEP D RGD:1642801|PMID:17620967 20071017 RGD protein:altered localization:mesenteric artery 619921 Rhoa ras homolog family member A gene DOID:1091 tooth disease ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:10976 membranous glomerulonephritis IMP D RGD:1642963|PMID:17376765 20071116 RGD protein:increased activity:epithelial cell 619921 Rhoa ras homolog family member A gene DOID:11054 urinary bladder cancer ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 619921 Rhoa ras homolog family member A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347797 D RGD:2298872|PMID:12855641 20080729 RGD protein:increased expression:urinary bladder 619921 Rhoa ras homolog family member A gene DOID:1107 esophageal carcinoma ISO RGD:1347797 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:1612 breast cancer disease_progression ISO RGD:1347797 D RGD:2298866|PMID:18575772 20080729 RGD 619921 Rhoa ras homolog family member A gene DOID:1612 breast cancer severity ISO RGD:1347797 D RGD:2298874|PMID:12237774 20080730 RGD protein:increased expression:breast 619921 Rhoa ras homolog family member A gene DOID:2121 ectodermal dysplasia ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:2377 multiple sclerosis ISO RGD:1347797 D RGD:2298887|PMID:17983427 20080730 RGD protein:increased expression:microglial cell, brain 619921 Rhoa ras homolog family member A gene DOID:2841 asthma IEP D RGD:2298885|PMID:18391481 20080730 RGD 619921 Rhoa ras homolog family member A gene DOID:305 carcinoma ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24816255 619921 Rhoa ras homolog family member A gene DOID:3459 breast carcinoma ISO RGD:1347797 D RGD:2298868|PMID:17007568 20080729 RGD 619921 Rhoa ras homolog family member A gene DOID:3717 gastric adenocarcinoma ISO RGD:1347797 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 619921 Rhoa ras homolog family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1347797 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1347797 D RGD:2298873|PMID:12808121 20080729 RGD mRNA, protein:increased expression:ovary 619921 Rhoa ras homolog family member A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347797 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:576 proteinuria ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19955829 619921 Rhoa ras homolog family member A gene DOID:630 genetic disease ISO RGD:1347797 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619921 Rhoa ras homolog family member A gene DOID:6432 pulmonary hypertension IEP D RGD:1642819|PMID:16322374 20071018 RGD protein:altered localization:pulmonary artery 619921 Rhoa ras homolog family member A gene DOID:6432 pulmonary hypertension IEP D RGD:2298877|PMID:18091588 20080730 RGD protein:altered localization:membrane, artery, lung 619921 Rhoa ras homolog family member A gene DOID:9000039 Spinal Cord Injuries IEP D RGD:243048440|PMID:27893610 20230331 RGD mRNA,protein:increased expression:spinal cord: 619921 Rhoa ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:13432052|PMID:17597401 20170914 RGD associated with colorectal cancer 619921 Rhoa ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:2298872|PMID:12855641 20080729 RGD associated with Bladder Neoplasms;protein:increased expression:lymph node 619921 Rhoa ras homolog family member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15448013|PMID:24816253|PMID:24816255 619921 Rhoa ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347797 D RGD:2298869|PMID:15269155 20080729 RGD protein:increased expression:testis 619921 Rhoa ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:1347797 D RGD:2298875|PMID:11872041 20080730 RGD mRNA:increased expression:testis 619921 Rhoa ras homolog family member A gene DOID:9000784 Fibrosis IEP D RGD:1642810|PMID:17184496 20071017 RGD associated with Hypertension;protein:increased activation:heart 619921 Rhoa ras homolog family member A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347797 D RGD:2298873|PMID:12808121 20080729 RGD associated with Ovarian Neoplasms 619921 Rhoa ras homolog family member A gene DOID:9000998 Brain Injuries IEP D RGD:2298888|PMID:17929039 20080730 RGD protein:increased expression:microglial cell, brain 619921 Rhoa ras homolog family member A gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1347797 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 619921 Rhoa ras homolog family member A gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1642803|PMID:17596891 20071017 RGD mRNA, protein:increased expression:liver 619921 Rhoa ras homolog family member A gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2298879|PMID:16492715 20080730 RGD mRNA, protein:increased expression:liver 619921 Rhoa ras homolog family member A gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:9002704 Leukoencephalopathies ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity IEP D RGD:2298887|PMID:17983427 20080730 RGD protein:increased expression:microglial cell, brain 619921 Rhoa ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:7240710 20210818 OMIM 619921 Rhoa ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies PMID:25741868|PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:9003936 Cardiomegaly IEP D RGD:1642810|PMID:17184496 20071116 RGD associated with Hypertension;protein:increased activation:heart 619921 Rhoa ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:731060 D RGD:1642807|PMID:17316608 20071017 RGD protein:increased expression:cardiac muscle cell 619921 Rhoa ras homolog family member A gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413737|PMID:24584070 619921 Rhoa ras homolog family member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 619921 Rhoa ras homolog family member A gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:1642807|PMID:17316608 20080730 RGD 619921 Rhoa ras homolog family member A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1347797 D RGD:1547861|PMID:12581011 20080729 RGD mRNA, protein:increased expression:renal/urinary system 619921 Rhoa ras homolog family member A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347797 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 619921 Rhoa ras homolog family member A gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1642825|PMID:17589825 20071018 RGD 619921 Rhoa ras homolog family member A gene DOID:9005660 Hypopigmentation ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:9006205 Animal Disease Models ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 619921 Rhoa ras homolog family member A gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:1642966|PMID:17367505 20071116 RGD protein:increased expression:spinal ganglion, macrophage, T cell 619921 Rhoa ras homolog family member A gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1347797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 619921 Rhoa ras homolog family member A gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1642967|PMID:17322412 20071116 RGD protein:altered localization:heart 619921 Rhoa ras homolog family member A gene DOID:9008091 Optic Nerve Injuries IEP D RGD:1642826|PMID:17534117 20071018 RGD protein:increased expression, altered localization:retina 619921 Rhoa ras homolog family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347797 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:9008939 Breast Neoplasms ISO RGD:1347797 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:26619011 619921 Rhoa ras homolog family member A gene DOID:9256 colorectal cancer ISO RGD:1347797 D RGD:13432052|PMID:17597401 20170914 RGD 619921 Rhoa ras homolog family member A gene DOID:9268 glycine encephalopathy ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 619921 Rhoa ras homolog family member A gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 619921 Rhoa ras homolog family member A gene DOID:987 alopecia ISO RGD:1347797 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 619921 Rhoa ras homolog family member A gene DOID:9970 obesity IEP D RGD:2298881|PMID:16267124 20080730 RGD protein:increased expression:membrane, aorta, skeletal muscle 619922 Madd MAP-kinase activating death domain gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:732838 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type PMID:25741868|PMID:32761064 619922 Madd MAP-kinase activating death domain gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 619922 Madd MAP-kinase activating death domain gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 619922 Madd MAP-kinase activating death domain gene DOID:1059 intellectual disability ISO RGD:732838 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619922 Madd MAP-kinase activating death domain gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732838 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 619922 Madd MAP-kinase activating death domain gene DOID:224 transient cerebral ischemia IEP D RGD:9588641|PMID:12625816 20141103 RGD 619922 Madd MAP-kinase activating death domain gene DOID:630 genetic disease ISO RGD:732838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28118382 619922 Madd MAP-kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:7240710 20201118 OMIM 619922 Madd MAP-kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deeah syndrome PMID:25741868|PMID:28492532|PMID:32761064 619922 Madd MAP-kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:7240710 20201216 OMIM 619922 Madd MAP-kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia PMID:25741868|PMID:28940097|PMID:29302074|PMID:32761064 619922 Madd MAP-kinase activating death domain gene DOID:9352 type 2 diabetes mellitus ISS RGD:737590 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:11335 sarcoidosis ISO RGD:1349365 D RGD:4145494|PMID:17949965 20101105 RGD protein:increased expression:serum 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:1205 allergic disease ISO RGD:1349365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1349365 D RGD:4145495|PMID:17641031 20101105 RGD mRNA:increased expression:lung 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1349365 D RGD:4145612|PMID:17898016 20101110 RGD associated with Cystic Fibrosis 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:1485 cystic fibrosis ISO RGD:1349365 D RGD:4145491|PMID:18026571 20101105 RGD mRNA, protein:increased expression:neutrophil 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:2799 bronchiolitis obliterans ISO RGD:1349365 D RGD:4145604|PMID:18785972 20101110 RGD 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:1349365 D RGD:4145486|PMID:20237293 20101105 RGD 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:4145487|PMID:20074456 20101105 RGD protein:increased expression:respiratory system fluid/secretion 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:4145513|PMID:15947487 20101108 RGD 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:4145603|PMID:11160256 20101110 RGD 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:3042 allergic contact dermatitis ISO RGD:733477 D RGD:1626251|PMID:15491423 20070727 RGD 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:3082 interstitial lung disease ISO RGD:1349365 D RGD:4145606|PMID:18276722 20101110 RGD protein:increased expression:serum 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349365 D RGD:4145489|PMID:18684970 20101105 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:3310 atopic dermatitis ISO RGD:1349365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:1349365 D RGD:4145488|PMID:19715610 20101105 RGD protein:increased expression:respiratory system fluid/secretion 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:4483 rhinitis ISO RGD:1349365 D RGD:4145498|PMID:17517104 20101105 RGD protein:increased expression:blood, mononuclear cell 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:4145614|PMID:20071465 20101110 RGD mRNA:increased expression:glomerulus 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia IEP D RGD:2306304|PMID:15993846 20101108 RGD mRNA:increased expression:lung 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:1349365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1349365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:9001371 Eosinophilia severity ISO RGD:1349365 D RGD:11354898|PMID:18395252 20160728 RGD associated with Lymphoma, T-Cell 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:733477 D RGD:4145515|PMID:15466387 20101108 RGD 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:9007417 Pseudomonas Infections ISO RGD:1349365 D RGD:4145500|PMID:16387607 20101105 RGD associated with Cystic Fibrosis 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:9008604 Radiation Pneumonitis IEP D RGD:4145517|PMID:15293604 20101108 RGD mRNA, protein:increased expression:lung, alveolar macrophage 619924 Ccl17 C-C motif chemokine ligand 17 gene DOID:9498 pulmonary eosinophilia ISO RGD:1349365 D RGD:4145602|PMID:11956056 20101110 RGD protein:increased expression:respiratory system fluid/secretion 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080033 craniometaphyseal dysplasia ISS RGD:734406 D RGD:13592920 20180518 MouseDO OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:7240710 20130221 OMIM 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:734571|PMID:11326272 19990101 RGD 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:1059 intellectual disability ISO RGD:734405 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:1156 chondrocalcinosis ISO RGD:734405 D RGD:734570|PMID:12297987 19990101 RGD 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:1156 chondrocalcinosis ISO RGD:734405 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:11832 visual epilepsy IEP D RGD:634632|PMID:12861042 20070117 RGD 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:289 endometriosis ISO RGD:734405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:630 genetic disease ISO RGD:734405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:848 arthritis ISO RGD:734406 D RGD:734569|PMID:10894769 19990101 RGD 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734405 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:7240710 20130425 OMIM 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:12297987|PMID:12297989|PMID:13130483|PMID:19449425|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532|PMID:32860008|PMID:8528213|PMID:9915952 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 619925 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9009007 Tooth Abnormalities ISO RGD:734405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 619926 Nup54 nucleoporin 54 gene DOID:630 genetic disease ISO RGD:732578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619926 Nup54 nucleoporin 54 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 619926 Nup54 nucleoporin 54 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732578 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:12823221|PMID:16239242|PMID:25728001 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:7240710 20130221 OMIM 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy PMID:16648376|PMID:25741868 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:630 genetic disease ISO RGD:1345820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 619928 Pabpn1 poly(A) binding protein, nuclear 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 619929 Prdm4 PR/SET domain 4 gene DOID:630 genetic disease ISO RGD:732265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61993 Plcb3 phospholipase C beta 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 61993 Plcb3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:7240710 20200812 OMIM 61993 Plcb3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy PMID:29122926 61993 Plcb3 phospholipase C beta 3 gene DOID:1059 intellectual disability ISO RGD:731269 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61993 Plcb3 phospholipase C beta 3 gene DOID:12858 Huntington's disease ISO RGD:62285 D RGD:13432582|PMID:22917585 20171003 RGD 61993 Plcb3 phospholipase C beta 3 gene DOID:3070 high grade glioma ISO RGD:731269 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 61993 Plcb3 phospholipase C beta 3 gene DOID:5844 myocardial infarction IEP D RGD:2314514|PMID:9521338 20091118 RGD protein:increased expression:heart 61993 Plcb3 phospholipase C beta 3 gene DOID:630 genetic disease ISO RGD:731269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61993 Plcb3 phospholipase C beta 3 gene DOID:8549 chronic ulcer of skin ISO RGD:62285 D RGD:737745|PMID:10669417 19990101 RGD 61993 Plcb3 phospholipase C beta 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314509|PMID:15362504 20091118 RGD protein:decreased expression:heart left ventricle 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16290310|PMID:16641580|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20683201|PMID:22364601|PMID:24339557|PMID:25741868|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33215027|PMID:33915153|PMID:34016879|PMID:9806540 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:36142670 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20130731 OMIM 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial intrahepatic cholestasis type 2 | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:14999697|PMID:15077010|PMID:15300568|PMID:15317749|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16290310|PMID:16641580|PMID:16763017|PMID:16871584|PMID:17855769|PMID:17947449|PMID:18395098|PMID:18692205|PMID:18798335|PMID:18937870|PMID:19101985|PMID:19571440|PMID:19750581|PMID:19797282|PMID:19845854|PMID:20010382|PMID:20232290|PMID:20414253|PMID:20583290|PMID:20683201|PMID:20799350|PMID:21404481|PMID:21490445|PMID:22364601|PMID:22609309|PMID:22795478|PMID:23022423|PMID:23279303|PMID:23684896|PMID:23750872|PMID:24033266|PMID:24115678|PMID:24214725|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24530123|PMID:24627769|PMID:24969679|PMID:24991443|PMID:25716872|PMID:25741868|PMID:25771912|PMID:25847299|PMID:26019043|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27153395|PMID:27239116|PMID:27368585|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:28776642|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31015375|PMID:31319225|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33915153|PMID:34008892|PMID:9806540 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:14402418|PMID:20447715 20190531 RGD DNA:mutation:cds:p.D482G(human) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:14688048|PMID:23758865 20190606 RGD DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:730944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21056966 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:25741868|PMID:26126923|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30091450|PMID:30934130|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:9806540 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20131030 OMIM 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:15300568|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16641580|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:18798335|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24711118|PMID:25716872|PMID:25741868|PMID:25847299|PMID:26019043|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:33215027|PMID:34008892|PMID:34016879|PMID:9806540 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis IDA D RGD:1598571|PMID:12702498 20061205 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis IEP D RGD:14402412|PMID:29087027 20190531 RGD protein:decreased expression:liver 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:730944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11179459|PMID:22461449|PMID:24713091 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis susceptibility ISO RGD:730945 D RGD:14402414|PMID:27593105 20190531 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis treatment IEP D RGD:15090804|PMID:27090119 20200103 RGD mRNA:altered expression:liver (rat) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis ISO RGD:730944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18049162 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis ISO RGD:730945 D RGD:14688049|PMID:22619174 20190606 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:730944 D RGD:1598583|PMID:9806540 20061206 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:2236 congenital afibrinogenemia ISO RGD:730944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22120137 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:3571 liver cancer ISO RGD:730945 D RGD:14402411|PMID:29651702 20190531 RGD mRNA:decreased expression:liver 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:5082 liver cirrhosis severity ISO RGD:730944 D RGD:14402415|PMID:29755014 20190531 RGD associated with Hepatitis C, Chronic;DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:630 genetic disease ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10579978|PMID:18395098|PMID:20232290|PMID:26516723|PMID:28492532 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9000808 Hypercholesterolemia ISO RGD:730945 D RGD:14688050|PMID:21726512 20190606 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9001586 Experimental Liver Neoplasms IDA D RGD:1598580|PMID:15853769 20061206 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730944 D RGD:14402416|PMID:22681771 20190531 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730944 D RGD:14402415|PMID:29755014 20190531 RGD DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730944 D RGD:14402417|PMID:29091211 20190531 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9005930 Endotoxemia IEP D RGD:1598596|PMID:9828229 20061206 RGD 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9006202 Pruritus ISO RGD:730944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18049162 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9006202 Pruritus ISO RGD:730944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pruritus PMID:15300568|PMID:17855769|PMID:25741868|PMID:28492532|PMID:31015375 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:730944 D RGD:14402413|PMID:27293027 20190531 RGD DNA:SNP: :rs2287616(human) 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 619930 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9970 obesity ISO RGD:730945 D RGD:14688050|PMID:21726512 20190606 RGD 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18575777 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:732542 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:13608 biliary atresia ISO RGD:732542 D RGD:1625622|PMID:14743499 20070615 RGD 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:3070 high grade glioma ISO RGD:732542 D RGD:1625600|PMID:16288219 20070614 RGD 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:732542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732543 D RGD:11344640|PMID:26569409 20210421 RGD mRNA:increased expression:liver (mouse) 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732542 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27776119 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732543 D RGD:150520045|PMID:24676147 20211116 RGD 619931 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:732542 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 619932 Hhex hematopoietically expressed homeobox gene DOID:0050770 polycystic liver disease ISO RGD:1350411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 619932 Hhex hematopoietically expressed homeobox gene DOID:630 genetic disease ISO RGD:1350411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619932 Hhex hematopoietically expressed homeobox gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1350411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 619932 Hhex hematopoietically expressed homeobox gene DOID:9008939 Breast Neoplasms ISO RGD:1350411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16854221 619932 Hhex hematopoietically expressed homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 619932 Hhex hematopoietically expressed homeobox gene DOID:9452 fatty liver disease ISO RGD:1350411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1351526 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35534561 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:106 pleural tuberculosis ISO RGD:1351526 D RGD:4891473|PMID:20337996 20110114 RGD 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:1324 lung cancer disease_progression ISO RGD:1351526 D RGD:4891472|PMID:16453150 20110114 RGD 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:2799 bronchiolitis obliterans ISO RGD:1351526 D RGD:4891471|PMID:20628341 20110114 RGD 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1351526 D RGD:4145489|PMID:18684970 20101105 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:4891474|PMID:18316417 20110114 RGD protein:increased expression:respiratory system fluid/secretion 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:4891475|PMID:10384142 20110114 RGD 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:289 endometriosis ISO RGD:1351526 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351526 D RGD:4145489|PMID:18684970 20101105 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:3310 atopic dermatitis ISO RGD:1351526 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22125604 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1351526 D RGD:38455996|PMID:28086903 20200807 RGD 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:1351526 D RGD:4145488|PMID:19715610 20101105 RGD protein:increased expression:respiratory system fluid/secretion 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:4483 rhinitis ISO RGD:1351526 D RGD:4145498|PMID:17517104 20101105 RGD protein:increased expression:blood, mononuclear cell 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:4780 anti-basement membrane glomerulonephritis IMP D RGD:2306306|PMID:12651599 20090416 RGD mRNA, protein:increased expression:glomerulus 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:552 pneumonia IEP D RGD:2306304|PMID:15993846 20101108 RGD mRNA:increased expression:lung 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:630 genetic disease ISO RGD:1351526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1351526 D RGD:10054497|PMID:19942450 20150810 RGD protein:increased expression:plasma: 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:8398 osteoarthritis ISO RGD:1351526 D RGD:10054497|PMID:19942450 20150810 RGD protein:increased expression:plasma: 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:9000641 Pain IMP D RGD:2306307|PMID:11438578 20090416 RGD 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:4145441|PMID:12600821 20110114 RGD associated with Mycobacterium Infections 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:4145515|PMID:15466387 20101108 RGD associated with Schistosomiasis mansoni 619933 Ccl22 C-C motif chemokine ligand 22 gene DOID:9008604 Radiation Pneumonitis IEP D RGD:4145517|PMID:15293604 20101108 RGD mRNA, protein:increased expression:lung, alveolar macrophage 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:0050073 invasive aspergillosis treatment ISO RGD:737416 D RGD:124713410|PMID:26861072 20210317 RGD DNA:polymorphisms:cds: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:0050083 Keshan disease ISO RGD:737416 D RGD:124713562|PMID:26893848 20210323 RGD mRNA,protein:increased expression:blood cells, serum: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737416 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:0060224 atrial fibrillation ISO RGD:737416 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27356304 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:0060903 thrombosis ISO RGD:737416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20978260 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:10923 sickle cell anemia susceptibility ISO RGD:737416 D RGD:11352749|PMID:20831548 20160719 RGD DNA:polymorphisms: :c.681 G>A,wildtype(human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:1287 cardiovascular system disease ISO RGD:737416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20978260 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737416 D RGD:124713562|PMID:26893848 20210323 RGD mRNA,protein:increased expression:blood cells, serum: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:13922 eosinophilic esophagitis treatment ISO RGD:737416 D RGD:11352743|PMID:26416193 20160718 RGD DNA:polymorphisms:: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:14067 Plasmodium falciparum malaria treatment ISO RGD:737416 D RGD:124713538|PMID:10471063 20210318 RGD DNA:polymorphisms:: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:1612 breast cancer treatment ISO RGD:737416 D RGD:124713411|PMID:26799162 20210317 RGD DNA:haplotype: : 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:3021 acute kidney failure ISO RGD:737416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:399 tuberculosis treatment ISO RGD:737416 D RGD:124713542|PMID:27393733 20210318 RGD DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:4661 multiple chemical sensitivity susceptibility ISO RGD:737416 D RGD:124713563|PMID:23936614 20210323 RGD DNA:polymorphism: :CYP2C19*2(human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:737416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:630 genetic disease ISO RGD:737416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737416 D RGD:124713413|PMID:11021356 20210317 RGD associated with hepatitis C; DNA:polymorphisms: : 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:737416 D RGD:124713412|PMID:23267857 20210317 RGD DNA:SNP: :CYP2C19*17(human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:750 peptic ulcer disease treatment ISO RGD:737416 D RGD:124713408|PMID:9867757 20210317 RGD DNA:polymorphisms:exons: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:783 end stage renal disease ISO RGD:737416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9000252 Allergic Rhinoconjunctivitis treatment ISO RGD:737416 D RGD:11352743|PMID:26416193 20160718 RGD associated with Eosinophilic Esophagitis; DNA:polymorphisms:: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737416 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27356304 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737416 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acute coronary syndrome PMID:19444287|PMID:21270786|PMID:27441996|PMID:7969038|PMID:9093256 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9002638 Poor Metabolism of Proguanil ISO RGD:737416 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proguanil, poor metabolism of PMID:18004210|PMID:19444287|PMID:21270786|PMID:27441996|PMID:7969038|PMID:8195181|PMID:9093256 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9005236 Drug Eruptions susceptibility ISO RGD:737416 D RGD:11352742|PMID:23551241 20160718 RGD DNA:SNP: :Rs4244285(human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9005236 Drug Eruptions treatment ISO RGD:737416 D RGD:124713543|PMID:20941486 20210318 RGD associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9006058 Invasive Fungal Infections treatment ISO RGD:737416 D RGD:124713540|PMID:25239277 20210318 RGD DNA:polymorphisms:: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9006058 Invasive Fungal Infections treatment ISO RGD:737416 D RGD:124713541|PMID:31222084 20210318 RGD DNA:polymorphism:: CYP2C19*17(rs12248560)(human) 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:737416 D RGD:11352750|PMID:21108329 20160719 RGD DNA:polymorphism: : 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737416 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:12963435|PMID:28762043 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008114 Helicobacter Infections no_association ISO RGD:737416 D RGD:124713537|PMID:27706745 20210318 RGD 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:737416 D RGD:124713408|PMID:9867757 20210317 RGD DNA:polymorphisms:exons: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:737416 D RGD:124713409|PMID:15691303 20210317 RGD DNA:polymorphisms:: 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008308 Poor Drug Metabolism, CYP2C19-Related ISO RGD:737416 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008308 Poor Drug Metabolism, CYP2C19-Related ISO RGD:737416 D RGD:7240710 20140723 OMIM 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008308 Poor Drug Metabolism, CYP2C19-Related ISO RGD:737416 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CYP2C19: decreased function | ClinVar Annotator: match by term: CYP2C19: no function | ClinVar Annotator: match by term: CYP2C19: uncertain function | ClinVar Annotator: match by term: Clopidogrel, poor metabolism of | ClinVar Annotator: match by term: Mephenytoin, poor metabolism of PMID:10022751|PMID:18004210|PMID:19444287|PMID:21270786|PMID:21716271|PMID:23698643|PMID:25974703|PMID:27441996|PMID:27981572|PMID:7969038|PMID:8195181|PMID:9093256|PMID:9103550|PMID:9435198 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9008975 Gastrointestinal Hemorrhage susceptibility ISO RGD:737416 D RGD:124713539|PMID:25605208 20210318 RGD associated with Gastrointestinal Diseases; DNA:polymorphisms: : 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:124713564|PMID:32742601 20210323 RGD 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9538 multiple myeloma no_association ISO RGD:737416 D RGD:11352804|PMID:20684753 20160720 RGD DNA:polymorphisms: : 619934 Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 gene DOID:9538 multiple myeloma treatment ISO RGD:737416 D RGD:11352748|PMID:17666363 20160719 RGD DNA:polymorphisms: : 619935 Krt18 keratin 18 gene DOID:0060643 primary sclerosing cholangitis severity ISO RGD:735767 D RGD:18337492|PMID:26195313 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:26884460|PMID:29989845 20200526 RGD associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) 619935 Krt18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735767 D RGD:18337482|PMID:30089409 20200122 RGD protein:increased expression:serum (human) 619935 Krt18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression IEP D RGD:18337497|PMID:30149902 20200122 RGD protein:increased degradation:serum (rat) 619935 Krt18 keratin 18 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:735767 D RGD:18337481|PMID:30839434 20200122 RGD protein:increased expression:serum (human) 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735767 D RGD:18337493|PMID:19333204 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis ISS RGD:1557581 D RGD:13592920 20220609 MouseDO 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity IEP D RGD:27226810|PMID:24071521 20200526 RGD protein:altered degradation:liver, serum (rat) 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:18337489|PMID:19585618 20200122 RGD protein:increased degradation:plasma (human) 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:18337490|PMID:24630506 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:18337495|PMID:18995215 20200122 RGD associated with morbid obesity;protein:increased degradation: plasma(human) 619935 Krt18 keratin 18 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:735767 D RGD:18337499|PMID:21993925 20200122 RGD protein:increased expression:serum (human) 619935 Krt18 keratin 18 gene DOID:12236 primary biliary cholangitis severity ISO RGD:735767 D RGD:18337483|PMID:26110613 20200122 RGD protein:increased expression:serum (human) 619935 Krt18 keratin 18 gene DOID:3571 liver cancer severity ISO RGD:1557581 D RGD:18337485|PMID:27689336 20200122 RGD associated with fatty liver disease 619935 Krt18 keratin 18 gene DOID:409 liver disease severity ISO RGD:735767 D RGD:18337488|PMID:17306787 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20538000 619935 Krt18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:1624318|PMID:9011570 20070508 RGD 619935 Krt18 keratin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:735767 D RGD:18337484|PMID:29023872 20200122 RGD protein:increased expression: serum (human) 619935 Krt18 keratin 18 gene DOID:630 genetic disease ISO RGD:735767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619935 Krt18 keratin 18 gene DOID:684 hepatocellular carcinoma ISS RGD:1557581 D RGD:13592920 20220609 MouseDO OMIM:114550 619935 Krt18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:27226809|PMID:21138630 20200526 RGD protein:increased expression:liver, plasma membrane (rat) 619935 Krt18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735767 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15999547|PMID:17072980|PMID:18395095|PMID:25380136 619935 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:18337481|PMID:30839434 20200122 RGD protein:increased expression:serum (human) 619935 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:18337496|PMID:22404726 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:18337500|PMID:23820504 20200122 RGD protein:increased expression:liver, serum (human) 619935 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735767 D RGD:18337493|PMID:19333204 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 619935 Krt18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:18337491|PMID:17847110 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735767 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:12724528|PMID:9011570 619935 Krt18 keratin 18 gene DOID:9005749 Necrosis ISO RGD:735767 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 619935 Krt18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:1557581|RGD:735767 D RGD:21406434|PMID:21357724 20200310 RGD protein:increased expression:serum (mouse, human) 619935 Krt18 keratin 18 gene DOID:9007188 Liver Neoplasms ISO RGD:735767 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 619935 Krt18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1557581 D RGD:18337498|PMID:17340120 20200122 RGD mRNA, protein:increased expression:liver (mouse) 619935 Krt18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735767 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:33483742 619935 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 619935 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 619935 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis susceptibility ISO RGD:735767 D RGD:7240710 20230510 OMIM 619935 Krt18 keratin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735767 D RGD:18337487|PMID:20334631 20200122 RGD protein:increased phosphorylation:liver (human) 619935 Krt18 keratin 18 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735767 D RGD:18337494|PMID:28579343 20200122 RGD protein:increased degradation:serum (human) 619935 Krt18 keratin 18 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735767 D RGD:18337486|PMID:24463813 20200122 RGD DNA:missense mutations:cds:p.D238E, p.D397E (human) 619935 Krt18 keratin 18 gene DOID:9008939 Breast Neoplasms ISO RGD:735767 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20061804|PMID:25330770 619936 Krt19 keratin 19 gene DOID:2841 asthma ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15478392 619936 Krt19 keratin 19 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733914 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 619936 Krt19 keratin 19 gene DOID:417 autoimmune disease ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 619936 Krt19 keratin 19 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733914 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 619936 Krt19 keratin 19 gene DOID:630 genetic disease ISO RGD:733914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619936 Krt19 keratin 19 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 619936 Krt19 keratin 19 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 619936 Krt19 keratin 19 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 619936 Krt19 keratin 19 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 619936 Krt19 keratin 19 gene DOID:9008510 Chronic Hepatitis ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 619936 Krt19 keratin 19 gene DOID:9446 cholangitis ISO RGD:733914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension IEP D RGD:4892132|PMID:19829664 20110208 RGD mRNA, protein:decreased expression:kidney (rat) 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension no_association IEP D RGD:2298761|PMID:16840655 20110208 RGD protein:increased expression:kidney (rat) 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:1176 bronchial disease ISO RGD:1552437 D RGD:4892197|PMID:15681819 20110209 RGD Allergic Airway Disease 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:2841 asthma ISO RGD:1552437 D RGD:4892195|PMID:16290206 20110209 RGD mRNA:increased expression:lung (mouse) 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:3310 atopic dermatitis severity ISO RGD:1349737 D RGD:4892193|PMID:20161852 20110209 RGD associated with Asthma; protein: increased secretion:serum (human) 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1552437 D RGD:4890012|PMID:19050296 20110214 RGD 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:614 lymphopenia IEP D RGD:4892224|PMID:19393265 20110214 RGD protein:decreased expression:small intestine villus (rat) 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:630 genetic disease ISO RGD:1349737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:9001488 Human Influenza resistance ISO RGD:1552437 D RGD:4892196|PMID:19847203 20110209 RGD 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349737 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619937 Ccl28 C-C motif chemokine ligand 28 gene DOID:9008225 Respirovirus Infections ISO RGD:1552437 D RGD:4892194|PMID:17954569 20110209 RGD mRNA:increased expression:lung (mouse) 619938 Nup62 nucleoporin 62 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1349933 D RGD:9831196|PMID:12753810 20150303 RGD 619938 Nup62 nucleoporin 62 gene DOID:630 genetic disease ISO RGD:1349933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619938 Nup62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:7240710 20130221 OMIM 619938 Nup62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatal degeneration familial PMID:16786527|PMID:25741868|PMID:28492532 619939 Rps15a ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:7240710 20190315 OMIM 619939 Rps15a ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 PMID:27909223 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0050952 spastic ataxia ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12382155|PMID:16759889|PMID:19302939|PMID:21990111|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0080600 COVID-19 ISO RGD:736552 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736552 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9425237 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:11554173 20190115 CTD CTD Direct Evidence: marker/mechanism PMID:7637805|PMID:21224254|PMID:27722792 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:7240710 20130515 OMIM 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:11589012|PMID:11727201|PMID:12125808|PMID:12382155|PMID:12796825|PMID:12855696|PMID:14997939|PMID:15464427|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:18704195|PMID:19302939|PMID:19440452|PMID:19793312|PMID:19793631|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:23857568|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25640679|PMID:25741868|PMID:26075876|PMID:26275418|PMID:26467025|PMID:26510000|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:29655203|PMID:30378543|PMID:30541466|PMID:30842224|PMID:31741823|PMID:33547378|PMID:33561134|PMID:34114234|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736553 D RGD:734785|PMID:11717424 20150205 RGD 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISS RGD:736553 D RGD:13592920 20180518 MouseDO OMIM:204200 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:11520175|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:25741868|PMID:26510000|PMID:28492532|PMID:28559085|PMID:28878621|PMID:30541466|PMID:9425237|PMID:9664077|PMID:9733046 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30541466 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10191107|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11589012|PMID:12382155|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:18704195|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28878621|PMID:29631617|PMID:31741823|PMID:33561134|PMID:7637805|PMID:9425237|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736552 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:30442709 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:1826 epilepsy ISO RGD:736552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:3529 central core disease ISO RGD:736552 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:18414213|PMID:21990111|PMID:24033266|PMID:25741868|PMID:28492532 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:630 genetic disease ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:12796825|PMID:12855696|PMID:15464427|PMID:15965709|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26510000|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:30378543|PMID:30541466|PMID:33561134|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9664077|PMID:9733046|PMID:9793631 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:10649502|PMID:10679943|PMID:11440996|PMID:11506414|PMID:17261688|PMID:19793312|PMID:20301601|PMID:21228398|PMID:21990111|PMID:23539563|PMID:23772246|PMID:24082928|PMID:25205113|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9425237|PMID:9664077|PMID:9733046 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:736552 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21990111|PMID:25741868 61994 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10477428|PMID:11440996|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:31741823|PMID:9664077 619940 Vcan versican gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 619940 Vcan versican gene DOID:10283 prostate cancer ISO RGD:1349729 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 619940 Vcan versican gene DOID:10941 intracranial aneurysm ISO RGD:1349729 D RGD:1598495|PMID:16917090 20061201 RGD DNA:SNP: :rs173686 (human) 619940 Vcan versican gene DOID:2349 arteriosclerosis TAS D RGD:632588|PMID:10397680 19990101 RGD 619940 Vcan versican gene DOID:289 endometriosis ISO RGD:1349729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 619940 Vcan versican gene DOID:5844 myocardial infarction IEP D RGD:1598497|PMID:16311904 20061201 RGD 619940 Vcan versican gene DOID:630 genetic disease ISO RGD:1349729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:25741868|PMID:28492532 619940 Vcan versican gene DOID:8501 fundus dystrophy ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:28492532 619940 Vcan versican gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1349729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 619940 Vcan versican gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349729 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619940 Vcan versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:1598496|PMID:16877430 20150213 RGD DNA:SNPs:intron:c.4004-5T>C, c.4004-5T>A, c.4004-1G>A (human) 619940 Vcan versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:7240710 20130221 OMIM 619940 Vcan versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:10333105|PMID:16043844|PMID:16636652|PMID:16877430|PMID:17035272|PMID:19655167|PMID:19901218|PMID:21738396|PMID:22739342|PMID:2319589|PMID:23462753|PMID:23571384|PMID:24174867|PMID:25741868|PMID:28492532 619940 Vcan versican gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1598497|PMID:16311904 20150326 RGD mRNA:increased expression:heart 619941 Ncan neurocan gene DOID:11054 urinary bladder cancer ISO RGD:1344259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 619941 Ncan neurocan gene DOID:3312 bipolar disorder ISO RGD:1344259 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 619941 Ncan neurocan gene DOID:4428 dyslexia ISO RGD:1344259 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Developmental dyslexia PMID:28839234 619941 Ncan neurocan gene DOID:630 genetic disease ISO RGD:1344259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:730838 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1210 optic neuritis ISO RGD:730839 D RGD:5686855|PMID:20151287 20120127 RGD associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:12849 autistic disorder ISO RGD:730839 D RGD:5686862|PMID:21575186 20120127 RGD protein:increased expression:cingulate cortex 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1826 epilepsy ISO RGD:730838 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2316 brain ischemia IEP D RGD:5686850|PMID:21864831 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:730838 D RGD:5686865|PMID:10976643 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2717 Bloom syndrome ISO RGD:730838 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:3213 demyelinating disease ISO RGD:730839 D RGD:5686845|PMID:22078261 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:3613 Canavan disease ISO RGD:730839 D RGD:5686858|PMID:19739253 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:5419 schizophrenia ISO RGD:730838 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:630 genetic disease ISO RGD:730838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:684 hepatocellular carcinoma ISO RGD:730838 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:5686848|PMID:22042562 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730838 D RGD:5686859|PMID:19604403 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730839 D RGD:5686844|PMID:22243800 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000998 Brain Injuries IEP D RGD:5686860|PMID:19473238 20120127 RGD protein:altered expression:cerebral cortex 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5686863|PMID:20162860 20120127 RGD protein:increased expression:spinal cord 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:730839 D RGD:5686852|PMID:21679768 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:5686869|PMID:17565360 20120130 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9007096 Stroke IEP D RGD:5686849|PMID:21951366 20120127 RGD 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9256 colorectal cancer ISO RGD:730838 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619942 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:730838 D RGD:734840|PMID:8562939 19990101 RGD 619943 Defb1 defensin beta 1 gene DOID:10754 otitis media ISO RGD:8967243 D RGD:9068941 20200609 RGD PMID:22072973|REF_RGD_ID:11554036 619943 Defb1 defensin beta 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737379 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:respiratory system fluid/secretion 619943 Defb1 defensin beta 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737379 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:serum 619943 Defb1 defensin beta 1 gene DOID:2773 contact dermatitis ISO RGD:737379 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 619943 Defb1 defensin beta 1 gene DOID:2841 asthma ISO RGD:737379 D RGD:4892254|PMID:16435024 20110216 RGD DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) 619943 Defb1 defensin beta 1 gene DOID:2841 asthma susceptibility ISO RGD:737379 D RGD:4892263|PMID:15696078 20110216 RGD DNA:SNP: :-1816 T>C (human) 619943 Defb1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737379 D RGD:1331523|PMID:11829455 20110216 RGD DNA:polymorphism (human) 619943 Defb1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:737379 D RGD:4892251|PMID:16700921 20110216 RGD DNA:SNPs: :multiple (human) 619943 Defb1 defensin beta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737379 D RGD:4892257|PMID:15569478 20110216 RGD DNA:polymorphism: :668C>G (human) 619943 Defb1 defensin beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737379 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:serum 619943 Defb1 defensin beta 1 gene DOID:552 pneumonia ISO RGD:737379 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:serum 619943 Defb1 defensin beta 1 gene DOID:630 genetic disease ISO RGD:737379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619943 Defb1 defensin beta 1 gene DOID:850 lung disease disease_progression ISO RGD:737379 D RGD:4892259|PMID:15463886 20110216 RGD associated with Cystic Fibrosis;protein:decreased expression:respiratory system fluid/secretion 619943 Defb1 defensin beta 1 gene DOID:850 lung disease severity ISO RGD:737379 D RGD:4892247|PMID:21077791 20110216 RGD associated with Cystic Fibrosis;DNA:SNP:5' utr:c.-20G>A (human) 619943 Defb1 defensin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737379 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 619943 Defb1 defensin beta 1 gene DOID:9005446 Mandibular Neoplasms ISO RGD:737379 D RGD:4892265|PMID:11934727 20110216 RGD protein:increased expression:respiratory system fluid/secretion 619943 Defb1 defensin beta 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312491|PMID:16740310 20110216 RGD 619943 Defb1 defensin beta 1 gene DOID:9007041 Actinobacillus Infections IEP D RGD:4892269|PMID:17076783 20110216 RGD mRNA:increased expression:gingival epithelium 619943 Defb1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:4892248|PMID:20193032 20110216 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) 619943 Defb1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:4892256|PMID:15820309 20110216 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human) 619943 Defb1 defensin beta 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:737379 D RGD:4892250|PMID:17960157 20110216 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) 619943 Defb1 defensin beta 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4892271|PMID:14521940 20110216 RGD 619943 Defb1 defensin beta 1 gene DOID:9675 pulmonary emphysema ISO RGD:732690 D RGD:4892249|PMID:18699806 20110216 RGD mRNA:decreased expression:lung 619943 Defb1 defensin beta 1 gene DOID:9970 obesity IEP D RGD:4892260|PMID:11340353 20110216 RGD mRNA:decreased expression:kidney 619944 Defb4 defensin beta 4 gene DOID:10459 common cold ISO RGD:1348794 D RGD:4892264|PMID:15034083 20110216 RGD mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus 619944 Defb4 defensin beta 4 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1348794 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:respiratory system fluid/secretion 619944 Defb4 defensin beta 4 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348794 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:serum 619944 Defb4 defensin beta 4 gene DOID:1485 cystic fibrosis ISO RGD:1348794 D RGD:4892267|PMID:9843998 20110216 RGD protein:increased expression:respiratory system fluid/secretion 619944 Defb4 defensin beta 4 gene DOID:3770 pulmonary fibrosis ISO RGD:1348794 D RGD:4892262|PMID:17000097 20110216 RGD protein:increased expression:serum 619944 Defb4 defensin beta 4 gene DOID:630 genetic disease ISO RGD:1625102 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619944 Defb4 defensin beta 4 gene DOID:850 lung disease ISO RGD:1348794 D RGD:4892267|PMID:9843998 20110216 RGD protein:increased expression:respiratory system fluid/secretion 619944 Defb4 defensin beta 4 gene DOID:874 bacterial pneumonia ISO RGD:1348794 D RGD:4892266|PMID:10213993 20110216 RGD protein:increased expression:plasma 619944 Defb4 defensin beta 4 gene DOID:9001415 Mycobacterium Infections ISO RGD:1348794 D RGD:4892261|PMID:11296379 20110216 RGD protein:increased expression:plasma, respiratory system fluid/secretion 619944 Defb4 defensin beta 4 gene DOID:9005446 Mandibular Neoplasms ISO RGD:1348794 D RGD:4892265|PMID:11934727 20110216 RGD protein:increased expression:respiratory system fluid/secretion 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:733941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733941 D RGD:2302388|PMID:14557245 20181030 RGD 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:13801046|PMID:21386696 20181030 RGD 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:630 genetic disease ISO RGD:733941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:7240710 20230505 OMIM 619945 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia PMID:36608681 619946 Gcsh glycine cleavage system protein H gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1348453 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 619946 Gcsh glycine cleavage system protein H gene DOID:630 genetic disease ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619946 Gcsh glycine cleavage system protein H gene DOID:9252 amino acid metabolic disorder ISO RGD:1348453 D RGD:12904659|PMID:7070876 20170517 RGD protein:decreased activity:liver: 619946 Gcsh glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:7240710 20130221 OMIM 619946 Gcsh glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:12402263|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33890291|PMID:9536098 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:736941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:0050777 Joubert syndrome ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:736941 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:12849 autistic disorder ISO RGD:736941 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:630 genetic disease ISO RGD:736941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619947 Mprip myosin phosphatase Rho interacting protein gene DOID:9004657 Weight Gain ISO RGD:736941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:1059 intellectual disability ISO RGD:732181 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:1969 cerebral palsy ISO RGD:732181 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:630 genetic disease ISO RGD:732181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:7240710 20210908 OMIM 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VENTRICULOMEGALY AND ARTHROGRYPOSIS PMID:25741868|PMID:28492532|PMID:28934391|PMID:32909676|PMID:33205811 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:7240710 20190315 OMIM 619949 Kidins220 kinase D-interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity PMID:17576681|PMID:25741868|PMID:27005418|PMID:28492532|PMID:28934391|PMID:29667355|PMID:9536098 61995 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:7240710 20230505 OMIM 61995 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10698713|PMID:10749983|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11504908|PMID:11685670|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12808147|PMID:12833416|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14623110|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17167516|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18558293|PMID:18725974|PMID:18767981|PMID:18986487|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21194675|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25980754|PMID:26099045|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26467025|PMID:26468640|PMID:26517354|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26898890|PMID:26919320|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28235761|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28523199|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29273943|PMID:29296277|PMID:29359449|PMID:29371908|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31664961|PMID:32162695|PMID:32185379|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792 61995 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME PMID:33372952|PMID:33471991|PMID:33600059|PMID:33876391|PMID:33887726|PMID:34268892|PMID:34308366|PMID:34625746|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9740666|PMID:9794233|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:0050696 fetal alcohol spectrum disorder IEP D RGD:12801493|PMID:12700235 20170404 RGD Protein:increased expression, increased activity:cerebellum (rat) 61995 Pten phosphatase and tensin homolog gene DOID:0050787 juvenile polyposis syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:127285606|PMID:33109573 20210622 RGD protein:increased expression:oral epithelium (human) 61995 Pten phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:62287 D RGD:1302555|PMID:15199412 20150218 RGD 61995 Pten phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 61995 Pten phosphatase and tensin homolog gene DOID:0050933 ovarian serous carcinoma exacerbates ISO RGD:69119 D RGD:11532228|PMID:26166715 20210622 RGD protein:increased expression:ovary, peritoneum (human) 61995 Pten phosphatase and tensin homolog gene DOID:0060041 autism spectrum disorder ISO RGD:69119 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 61995 Pten phosphatase and tensin homolog gene DOID:0060041 autism spectrum disorder ISS RGD:62287 D RGD:13592920 20190516 MouseDO 61995 Pten phosphatase and tensin homolog gene DOID:0060058 lymphoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22287727 61995 Pten phosphatase and tensin homolog gene DOID:0060669 cerebral cavernous malformation ISO RGD:69119 D RGD:12859036|PMID:19061355 20170411 RGD protein:decreased expression:brain (human) 61995 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15805158|PMID:17286265|PMID:17427195 61995 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:12832751|PMID:15805158 20170410 RGD DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human) 61995 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:7240710 20230505 OMIM 61995 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10772390|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11071384|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12015762|PMID:12372056|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20718038|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22505997|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:2338203|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23744781|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24088041|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24468202|PMID:24728327|PMID:24763289|PMID:24768297|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25418537|PMID:25525159|PMID:25527629|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25980754|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26443266|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26633545|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27535533|PMID:27878467|PMID:27884173|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28251007|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29048666|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29389947|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30287823|PMID:30311381|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30763456|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:32150788|PMID:32238909|PMID:32350270|PMID:32442409|PMID:32860008|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33887726|PMID:34268892|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9685848|PMID:9832031|PMID:9832032|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:0080072 intestinal pseudo-obstruction ISS RGD:62287 D RGD:13592920 20200702 MouseDO 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:62287 D RGD:1302552|PMID:9697695 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism PMID:9140396|PMID:9241266|PMID:9259288|PMID:9286463|PMID:10353779|PMID:10400993|PMID:11496368|PMID:11685670|PMID:11748304|PMID:14574156|PMID:17427195|PMID:17526800|PMID:19321504|PMID:19968660 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:12802356|PMID:17341483 20170405 RGD DNA:deletions:multiple (human) 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:12859035|PMID:16773562 20170411 RGD mRNA:spice variants:lymphocyte (human) 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:12859041|PMID:24102544 20170411 RGD DNA:deletion:exon:c.950_953delTACT (human) 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16598737|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29510612|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31674007|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33876391|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16052674|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16619501|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22970944|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23419777|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26932208|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27854218|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30793491|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31199785|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31674007|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35101336|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome susceptibility ISO RGD:69119 D RGD:12802361|PMID:9140396 20170406 RGD DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human) 61995 Pten phosphatase and tensin homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 61995 Pten phosphatase and tensin homolog gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69119 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 61995 Pten phosphatase and tensin homolog gene DOID:0080365 endometrial hyperplasia ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16402032 61995 Pten phosphatase and tensin homolog gene DOID:0081000 Cowden syndrome 4 ISO RGD:69119 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:25741868 61995 Pten phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11748304 61995 Pten phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly PMID:10866302|PMID:11748304|PMID:17526800|PMID:17526801|PMID:17942903|PMID:21828076|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29874181 61995 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:2292512|PMID:16984224 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:7240710 20230505 OMIM 61995 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17526801|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25677497|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18767981|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:2292502|PMID:17700571 20080421 RGD DNA:deletion 61995 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) (human) 61995 Pten phosphatase and tensin homolog gene DOID:10325 silicosis ISO RGD:69119 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 61995 Pten phosphatase and tensin homolog gene DOID:10534 stomach cancer ISO RGD:69119 D RGD:127285615|PMID:27572739 20210622 RGD protein:decreased expression:stomach (human) 61995 Pten phosphatase and tensin homolog gene DOID:10534 stomach cancer ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10076877|PMID:10400993|PMID:10555148|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:12614768|PMID:12938083|PMID:1336932|PMID:14566704|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16199547|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22962422|PMID:23161105|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24123798|PMID:24345843|PMID:24375884|PMID:24744697|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25363760|PMID:25647146|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26773036|PMID:27426521|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27824329|PMID:28191890|PMID:28263302|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31332282|PMID:31336731|PMID:32295079|PMID:32664367|PMID:33083010|PMID:33088792|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9832031|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:10584 retinitis pigmentosa onset IEP D RGD:12802340|PMID:22432009 20170405 RGD mRNA:increased expression:retina (rat) 61995 Pten phosphatase and tensin homolog gene DOID:1059 intellectual disability ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11496368|PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751 61995 Pten phosphatase and tensin homolog gene DOID:1059 intellectual disability ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10555148|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17576681|PMID:18080326|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:9536098 61995 Pten phosphatase and tensin homolog gene DOID:10762 portal hypertension IDA D RGD:1581280|PMID:14525948 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:10763 hypertension ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15646324 61995 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:69119 D RGD:2292515|PMID:9671402 20080422 RGD DNA:mutations: :multiple 61995 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISS RGD:62287 D RGD:13592920 20180518 MouseDO OMIM:109800 61995 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69119 D RGD:2291891|PMID:18190825 20080403 RGD protein:decreased expression:urinary bladder 61995 Pten phosphatase and tensin homolog gene DOID:11132 prostatic hypertrophy ISO RGD:62287 D RGD:1302553|PMID:11175795 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human) PMID:28945300|REF_RGD_ID:127285601 61995 Pten phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with tonsil cancer;protein:increased expression:tonsil (human) PMID:24616007|REF_RGD_ID:127285613 61995 Pten phosphatase and tensin homolog gene DOID:1148 polydactyly ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17427195 61995 Pten phosphatase and tensin homolog gene DOID:11832 visual epilepsy ISO RGD:62287 D RGD:1302554|PMID:11726926 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:1192 peripheral nervous system neoplasm ISO RGD:69119 D RGD:12802354|PMID:19246520 20170405 RGD associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human) 61995 Pten phosphatase and tensin homolog gene DOID:12273 anisometropia ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 61995 Pten phosphatase and tensin homolog gene DOID:1240 leukemia ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 61995 Pten phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:2292498|PMID:18000229 20080421 RGD protein:decreased expression:myometrium 61995 Pten phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:2292508|PMID:17097286 20080422 RGD protein:increased phosphorylation:myometrium 61995 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11496368|PMID:18759867|PMID:19211884|PMID:19265751 61995 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:16506206|PMID:16704655|PMID:19457929|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:9288766 61995 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:16506206|PMID:16704655|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:9288766|PMID:9600246 61995 Pten phosphatase and tensin homolog gene DOID:13042 persistent fetal circulation syndrome ISS RGD:62287 D RGD:13592920 20180518 MouseDO OMIM:265380 61995 Pten phosphatase and tensin homolog gene DOID:13482 Proteus syndrome ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11748304|PMID:12471211|PMID:17427195 61995 Pten phosphatase and tensin homolog gene DOID:13482 Proteus syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteus-like syndrome PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:12471211|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:13608 biliary atresia ISO RGD:69119 D RGD:12832754|PMID:25487473 20170410 RGD mRNA:decreased expression:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:1380 endometrial cancer ISS RGD:62287 D RGD:13592920 20190321 MouseDO OMIM:608089 61995 Pten phosphatase and tensin homolog gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11685670 61995 Pten phosphatase and tensin homolog gene DOID:14566 disease of cellular proliferation ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:12085208|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:25157968|PMID:25741868|PMID:26517354|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:33077954|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:1470 major depressive disorder ISO RGD:69119 D RGD:127285604|PMID:12969265 20210622 RGD protein:increased expression:occipital cortex (human) 61995 Pten phosphatase and tensin homolog gene DOID:1520 colon carcinoma ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892 61995 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:12832752|PMID:9345101 20170410 RGD associated with Hamartoma Syndrome, Multiple;DNA:insertions, deletion:c.137ins3, c.791insAT, c.915del12 (human) 61995 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:2292517|PMID:9399897 20080422 RGD associated with Hamartoma Syndrome, Multiple;DNA:mutations: :multiple 61995 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:9467011|PMID:9619835|PMID:9788441 61995 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer disease_progression ISO RGD:69119 D RGD:2292514|PMID:12055674 20080422 RGD protein:decreased expression:breast 61995 Pten phosphatase and tensin homolog gene DOID:1749 squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 61995 Pten phosphatase and tensin homolog gene DOID:1793 pancreatic cancer ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 61995 Pten phosphatase and tensin homolog gene DOID:1793 pancreatic cancer ISO RGD:69119 D RGD:5490965|PMID:19506583 20120322 RGD 61995 Pten phosphatase and tensin homolog gene DOID:1826 epilepsy ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533 61995 Pten phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10978354|PMID:19282848|PMID:22535842 61995 Pten phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:2290476|PMID:16847462 20080313 RGD 61995 Pten phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10866302|PMID:1097835|PMID:10978354|PMID:11476841|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16007494|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:2018 hyperinsulinism IEP D RGD:2292519|PMID:18421022 20080422 RGD protein:decreased expression:ovary 61995 Pten phosphatase and tensin homolog gene DOID:2043 hepatitis B exacerbates ISO RGD:62287 D RGD:127285593|PMID:31604033 20210622 RGD mRNA:decreased expression:liver (mouse) 61995 Pten phosphatase and tensin homolog gene DOID:219 colon cancer ISO RGD:69119 D RGD:12859043|PMID:21806946 20170411 RGD mRNA:decreased expression:colon (human) 61995 Pten phosphatase and tensin homolog gene DOID:2226 myeloproliferative neoplasm ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 61995 Pten phosphatase and tensin homolog gene DOID:224 transient cerebral ischemia IEP D RGD:1358425|PMID:12414116 20130815 RGD 61995 Pten phosphatase and tensin homolog gene DOID:2256 osteochondrodysplasia ISO RGD:62287 D RGD:12859038|PMID:18832389 20170411 RGD 61995 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:27535533|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33471991 61995 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ameliorates ISO RGD:69119 D RGD:127285605|PMID:18347155 20210622 RGD human gene and cells in a mouse model 61995 Pten phosphatase and tensin homolog gene DOID:2526 prostate adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 61995 Pten phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:21194675|PMID:28492532|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:264 hemangiopericytoma ISO RGD:69119 D RGD:155663351|PMID:26951238 20221110 RGD protein:decreased expression:anterior temporal lobe 61995 Pten phosphatase and tensin homolog gene DOID:2671 transitional cell carcinoma ISO RGD:69119 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:27535533|PMID:28492532|PMID:29706350 61995 Pten phosphatase and tensin homolog gene DOID:2841 asthma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17982072 61995 Pten phosphatase and tensin homolog gene DOID:2843 long QT syndrome ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21097842 61995 Pten phosphatase and tensin homolog gene DOID:2870 endometrial adenocarcinoma ameliorates ISO RGD:62287 D RGD:127285600|PMID:32843721 20210622 RGD 61995 Pten phosphatase and tensin homolog gene DOID:2871 endometrial carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10866302|PMID:10920277|PMID:11504908|PMID:11948419|PMID:16014636|PMID:16199547|PMID:17576681|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:20600018|PMID:21103832|PMID:21194675|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:25157968|PMID:25741868|PMID:25980754|PMID:26619011|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:32350270|PMID:32832836|PMID:32885271|PMID:7728760|PMID:8980400|PMID:9259288|PMID:9326929|PMID:9467011|PMID:9536098|PMID:9740666|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:299 adenocarcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17909629 61995 Pten phosphatase and tensin homolog gene DOID:303 substance-related disorder IMP D RGD:2292548|PMID:16474401 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:305 carcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9326929 61995 Pten phosphatase and tensin homolog gene DOID:3068 glioblastoma ISO RGD:69119 D RGD:2290476|PMID:16847462 20080313 RGD 61995 Pten phosphatase and tensin homolog gene DOID:3068 glioblastoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12085208 61995 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:12801495|PMID:9090379 20170404 RGD DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human) 61995 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:7240710 20230505 OMIM 61995 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:18767981|PMID:19340001|PMID:19458356|PMID:19829307|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22491738|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:26773036|PMID:27221918|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28755079|PMID:29373119|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:3151 skin squamous cell carcinoma ameliorates ISO RGD:62287 D RGD:126928134|PMID:24582960 20210622 RGD 61995 Pten phosphatase and tensin homolog gene DOID:3153 lipomatosis ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11748304 61995 Pten phosphatase and tensin homolog gene DOID:3247 rhabdomyosarcoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10848731|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:16773562|PMID:17286265|PMID:18767981|PMID:20085938|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:23335809|PMID:23470840|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:25157968|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30614812|PMID:30659124|PMID:33083010|PMID:33372952|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:3314 angiomyolipoma ISO RGD:69119 D RGD:12802360|PMID:22737271 20170406 RGD protein:increased expression:kidney (human) 61995 Pten phosphatase and tensin homolog gene DOID:3315 lipoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 61995 Pten phosphatase and tensin homolog gene DOID:3459 breast carcinoma ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16773562|PMID:21194675|PMID:28492532|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12085208 61995 Pten phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Meningioma PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:27535533|PMID:28492532|PMID:28755079|PMID:29373119|PMID:30287823 61995 Pten phosphatase and tensin homolog gene DOID:363 uterine cancer ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:37 skin disease ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19321504 61995 Pten phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:3742 bladder squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:127285612|PMID:26916953 20210622 RGD associated with schistosomiasis;protein:decreased expression:urothelium (human) 61995 Pten phosphatase and tensin homolog gene DOID:3907 lung squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:12832745|PMID:9458098 20170410 RGD DNA:loss of heterozygosity:cds: (human) 61995 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:152998889|PMID:22956424 20220630 RGD mRNA:decreased expression:lung (human) 61995 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:152998901|PMID:20223231 20220630 RGD mRNA:decreased expression:lung (human) 61995 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:5133242|PMID:20951313 20110608 RGD 61995 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10400993|PMID:10555148|PMID:10920277|PMID:10923032|PMID:11504908|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:24778394|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:30528446|PMID:30614812|PMID:31336731|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 61995 Pten phosphatase and tensin homolog gene DOID:3910 lung adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 61995 Pten phosphatase and tensin homolog gene DOID:3962 thyroid gland follicular carcinoma ISS RGD:69119 D RGD:13592920 20180518 MouseDO OMIM:188470 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma IEP D RGD:12802360|PMID:22737271 20170406 RGD protein:decreased expression:kidney (rat) 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:1643331|PMID:17681738 20080421 RGD 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:2292500|PMID:17886097 20080421 RGD protein:decreased expression:kidney 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69119 D RGD:2292513|PMID:15821467 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:7240710 20230505 OMIM 61995 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:11939587|PMID:14518070|PMID:14566704|PMID:16014636|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17898811|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:26467025|PMID:26468640|PMID:27477328|PMID:27531073|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30287823|PMID:30311380|PMID:30614812|PMID:30659124|PMID:32238909|PMID:32350270|PMID:32366478|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:33876391|PMID:33887726|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9600246|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:69119 D RGD:152177907|PMID:24796583 20220519 RGD protein:decreased expression:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:62287 D RGD:12802341|PMID:23376645 20170405 RGD 61995 Pten phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 61995 Pten phosphatase and tensin homolog gene DOID:5041 esophageal cancer ISO RGD:69119 D RGD:152995510|PMID:27188433 20220628 RGD protein:decreased expression:esophagus (human) 61995 Pten phosphatase and tensin homolog gene DOID:5041 esophageal cancer treatment ISO RGD:69119 D RGD:127285592|PMID:20378992 20210622 RGD human gene and cells in a mouse model 61995 Pten phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:62287 D RGD:127285596|PMID:31907686 20210622 RGD associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse) 61995 Pten phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:69119 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 61995 Pten phosphatase and tensin homolog gene DOID:5409 lung small cell carcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 61995 Pten phosphatase and tensin homolog gene DOID:5409 lung small cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:5411 lung oat cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:5419 schizophrenia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 61995 Pten phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:11801303|PMID:23873848 61995 Pten phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866302|PMID:11504908|PMID:11801303|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 61995 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 61995 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:17427195|PMID:17942903|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 61995 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:9619835|PMID:9788441 61995 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 61995 Pten phosphatase and tensin homolog gene DOID:6171 uterine carcinosarcoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:630 genetic disease ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11685670|PMID:11918710|PMID:11939587|PMID:12614768|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17576681|PMID:17928923|PMID:17942903|PMID:17954274|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22076652|PMID:22381246|PMID:22469695|PMID:22595938|PMID:22970944|PMID:23160955|PMID:23335809|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24136893|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26468640|PMID:26580448|PMID:26898890|PMID:27477328|PMID:27481051|PMID:27531073|PMID:27535533|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30327747|PMID:30614812|PMID:31664961|PMID:32123317|PMID:32238909|PMID:32350270|PMID:32664367|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33600059|PMID:36988593|PMID:9140396|PMID:9256433|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9832032 61995 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26773036|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28492532|PMID:28526761|PMID:29663862|PMID:30287823|PMID:30614812|PMID:30793491|PMID:32238909|PMID:33077954|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 61995 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:11875759|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26619011|PMID:26773036|PMID:26798346|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29663862|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30793491|PMID:31336731|PMID:31594918|PMID:32162695|PMID:32238909|PMID:33077954|PMID:33208383|PMID:33600059|PMID:33876391|PMID:35227301|PMID:36988593|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9735393|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISS RGD:62287 D RGD:13592920 20210805 MouseDO 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:152995524|PMID:29303510 20220628 RGD 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:127285603|PMID:30690477 20210622 RGD associated with hepatitis B;protein:decreased expression:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:127285591|PMID:12673720 20210622 RGD protein:decreased expression:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:127285610|PMID:12115563 20210622 RGD associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma severity ISO RGD:69119 D RGD:152995524|PMID:29303510 20220628 RGD protein:decreased expression:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:151893509|PMID:31801250 20220422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:76 stomach disease IEP D RGD:1581280|PMID:14525948 20080422 RGD associated with Hypertension, Portal;protein:increased expression:stomach mucosa 61995 Pten phosphatase and tensin homolog gene DOID:8029 sporadic breast cancer ISO RGD:69119 D RGD:12859037|PMID:15287024 20170411 RGD DNA:hypermethylation:promoter: (human) 61995 Pten phosphatase and tensin homolog gene DOID:83 cataract ISO RGD:62287 D RGD:12859033|PMID:24270425 20170411 RGD 61995 Pten phosphatase and tensin homolog gene DOID:8541 Sezary's disease ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 61995 Pten phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:62287 D RGD:2292497|PMID:18268330 20080421 RGD 61995 Pten phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19081794|PMID:22581815 61995 Pten phosphatase and tensin homolog gene DOID:8719 in situ carcinoma ISO RGD:69119 D RGD:2289828|PMID:17349568 20080422 RGD associated with Endometrial Neoplasms;protein:decreased expression:endometrium 61995 Pten phosphatase and tensin homolog gene DOID:874 bacterial pneumonia ameliorates ISO RGD:62287 D RGD:127285594|PMID:21527775 20210622 RGD myeloid knockout 61995 Pten phosphatase and tensin homolog gene DOID:8761 acute megakaryocytic leukemia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10848731|PMID:17941496|PMID:20600018|PMID:21194675|PMID:21343951|PMID:21659347|PMID:22281088|PMID:22520842|PMID:23335809|PMID:23475934|PMID:23886400|PMID:24778394|PMID:25741868|PMID:26376867|PMID:28492532|PMID:29663862|PMID:35227301 61995 Pten phosphatase and tensin homolog gene DOID:8923 skin melanoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:8947 diabetic retinopathy IEP D RGD:41410819|PMID:31759996 20210216 RGD mRNA, protein:decreased expression:retina 61995 Pten phosphatase and tensin homolog gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69119 D RGD:2298701|PMID:17672936 20080715 RGD protein:decreased expression:uterine cervix 61995 Pten phosphatase and tensin homolog gene DOID:9000039 Spinal Cord Injuries IEP D RGD:156420142|PMID:28601045 20230215 RGD mRNA:increased expression:spinal cord: 61995 Pten phosphatase and tensin homolog gene DOID:9000040 Hypertrophy ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19211884 61995 Pten phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:2292499|PMID:17919877 20080421 RGD associated with Breast Neoplasms 61995 Pten phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:2292507|PMID:17163422 20080422 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate 61995 Pten phosphatase and tensin homolog gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:9371490 61995 Pten phosphatase and tensin homolog gene DOID:9000509 Epstein-Barr Virus Infections ISO RGD:69119 D RGD:127285616|PMID:19339266 20210622 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) 61995 Pten phosphatase and tensin homolog gene DOID:9000918 Disease Progression ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20729295 61995 Pten phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:62287 D RGD:2292496|PMID:18381417 20080421 RGD associated with Mammary Neoplasms, Experimental 61995 Pten phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10978354 61995 Pten phosphatase and tensin homolog gene DOID:9001527 Congenital Hypomyelinating Neuropathy ISO RGD:12181883 D RGD:9068941 20210604 OMIA Colorectal hamartomatous polyposis and ganglioneuromatosis PMID:20952721 61995 Pten phosphatase and tensin homolog gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:62287 D RGD:127285597|PMID:20505137 20210622 RGD myeloid knockout 61995 Pten phosphatase and tensin homolog gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2292546|PMID:16804083 20080422 RGD protein:decreased expression:kidney cortex, glomerulus 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:62287 D RGD:1302553|PMID:11175795 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:62287 D RGD:2292497|PMID:18268330 20080421 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:9371490|PMID:16421604|PMID:17173048|PMID:19081794|PMID:19396168|PMID:20729295|PMID:21456062|PMID:21714127|PMID:22581815|PMID:22610119|PMID:23248098|PMID:28319090|PMID:29295717|PMID:29335545|PMID:29610475|PMID:32525019|PMID:33129824 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:2290476|PMID:16847462 20080313 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:2326139|PMID:18008377 20100625 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:8693397|PMID:23759327 20140715 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:62287 D RGD:2292510|PMID:11854455 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10400993|PMID:10555148|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:33083010|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:62287 D RGD:2289817|PMID:17418409 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21372221 61995 Pten phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11948419|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20881644|PMID:21103832|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24292679|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:2292501|PMID:17727244 20080421 RGD DNA:amplification 61995 Pten phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:2298701|PMID:17672936 20080715 RGD protein:decreased expression:uterine cervix 61995 Pten phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:12859034|PMID:23124040 20170411 RGD DNA:missense mutation:cds:p.M134I (human) 61995 Pten phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 61995 Pten phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly IEP D RGD:2292549|PMID:16188065 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:62287 D RGD:1581282|PMID:11448956 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury IMP D RGD:2292538|PMID:17239858 20080422 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 61995 Pten phosphatase and tensin homolog gene DOID:9004118 Experimental Melanoma ISO RGD:69119 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 61995 Pten phosphatase and tensin homolog gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:62287 D RGD:12859040|PMID:22700876 20170411 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:12802357|PMID:11156411 20170405 RGD DNA:loss of heterozygosity, mutations:multiple (human) 61995 Pten phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:2289817|PMID:17418409 20080422 RGD DNA:mutations: :multiple 61995 Pten phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 61995 Pten phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 61995 Pten phosphatase and tensin homolog gene DOID:9004464 Skin Neoplasms ISO RGD:62287 D RGD:127285609|PMID:21771908 20210622 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms ISO RGD:69119 D RGD:12832747|PMID:10793080 20170410 RGD DNA:loss of heterozygosity:cds: (human) 61995 Pten phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms severity ISO RGD:69119 D RGD:12832749|PMID:12203792 20170410 RGD mRNA:decreased expression:thyroid gland (human) 61995 Pten phosphatase and tensin homolog gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21994956 61995 Pten phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1581281|PMID:15929827 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy treatment IEP D RGD:12801498|PMID:22609523 20170404 RGD associated with Arteriovenous Fistula 61995 Pten phosphatase and tensin homolog gene DOID:9004866 Ataxia ISO RGD:62287 D RGD:1302554|PMID:11726926 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9005172 Lung Neoplasms ISO RGD:69119 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:17909629|PMID:27980214 61995 Pten phosphatase and tensin homolog gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:62287 D RGD:2292496|PMID:18381417 20080421 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9005369 Hepatomegaly ISO RGD:62287 D RGD:1302555|PMID:15199412 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:69119 D RGD:127285607|PMID:15569824 20210622 RGD associated with Carotid Artery Injuries, human gene in a rat model 61995 Pten phosphatase and tensin homolog gene DOID:9005466 Language Development Disorders ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 61995 Pten phosphatase and tensin homolog gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69119 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 61995 Pten phosphatase and tensin homolog gene DOID:9006534 Nervous System Malformations ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:69119 D RGD:2290476|PMID:16847462 20080313 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194575|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26362251|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31336731|PMID:31594918|PMID:32037394|PMID:32190315|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33876391|PMID:33887726|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045 61995 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007364 Mouth Neoplasms ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:10866302|PMID:11504908|PMID:11948419|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24292679|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27535533|PMID:28492532|PMID:29706350|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9007367 Septic Peritonitis ameliorates ISO RGD:62287 D RGD:127285602|PMID:21521784 20210622 RGD associated with Escherichia Coli Infections 61995 Pten phosphatase and tensin homolog gene DOID:9007417 Pseudomonas Infections exacerbates ISO RGD:62287 D RGD:127285608|PMID:29246444 20210622 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9007502 Brain Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18767981|PMID:18986487|PMID:19265751|PMID:20085938|PMID:20301661|PMID:20533527|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23633456|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24721394|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9619835|PMID:9856571 61995 Pten phosphatase and tensin homolog gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69119 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28823542 61995 Pten phosphatase and tensin homolog gene DOID:9007653 Multiple Abnormalities ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18759867 61995 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance IDA D RGD:2292521|PMID:18385463 20080422 RGD protein:increased expression, decreased acetylation:liver 61995 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18303120 61995 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:127285595|PMID:24367090 20210622 RGD protein:increased activity:liver (human) 61995 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9326929|PMID:12888921|PMID:16402032|PMID:16804899 61995 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:12832746|PMID:9765621 20170410 RGD DNA:loss of heterozygosity:cds: (human) 61995 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:12832753|PMID:9354433 20170410 RGD DNA:mutations:multiple (human) 61995 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:4143515|PMID:19078924 20100929 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:69119 D RGD:2292506|PMID:17317031 20080422 RGD protein:decreased expression:endometrium 61995 Pten phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 61995 Pten phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:62287 D RGD:127285611|PMID:20951693 20210622 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18759867|PMID:19265751|PMID:19321504 61995 Pten phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26467025 61995 Pten phosphatase and tensin homolog gene DOID:9008090 Chlamydiaceae Infections ISO RGD:62287 D RGD:41404696|PMID:27448447 20210622 RGD associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) 61995 Pten phosphatase and tensin homolog gene DOID:9008114 Helicobacter Infections ISO RGD:69119 D RGD:127285599|PMID:26376616 20210622 RGD associated with gastritis;protein:increased phosphorylation:stomach (human) 61995 Pten phosphatase and tensin homolog gene DOID:9008138 Ductal Carcinoma ISO RGD:69119 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 61995 Pten phosphatase and tensin homolog gene DOID:9008237 Hemimegalencephaly ISO RGD:69119 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 61995 Pten phosphatase and tensin homolog gene DOID:9008443 Colorectal Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9286463|PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751|PMID:19321504 61995 Pten phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18066063|PMID:19685490|PMID:19968660|PMID:20400965 61995 Pten phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:2290476|PMID:16847462 20080313 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 61995 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 61995 Pten phosphatase and tensin homolog gene DOID:9256 colorectal cancer exacerbates ISO RGD:69119 D RGD:127285614|PMID:27661110 20210622 RGD protein:increased expression:colorectum, cytoplasm (human) 61995 Pten phosphatase and tensin homolog gene DOID:9351 diabetes mellitus IEP D RGD:2292543|PMID:16961925 20080422 RGD protein:increased expression, increased phosphorylation:inferior vena cava 61995 Pten phosphatase and tensin homolog gene DOID:936 brain disease ISS RGD:62287 D RGD:13592920 20180518 MouseDO 61995 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction IEP D RGD:11526378|PMID:26973267 20210622 RGD mRNA:decreased expression:heart left ventricle (rat) 61995 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:62287 D RGD:155882565|PMID:29990866 20230130 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9452 fatty liver disease IEP D RGD:2292522|PMID:18166358 20080422 RGD protein:decreased expression:liver 61995 Pten phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:62287 D RGD:1302555|PMID:15199412 19990101 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9452 fatty liver disease ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 61995 Pten phosphatase and tensin homolog gene DOID:9460 uterine corpus cancer ISO RGD:69119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:29706350|PMID:9256433 61995 Pten phosphatase and tensin homolog gene DOID:9884 muscular dystrophy treatment ISO RGD:62287 D RGD:12859039|PMID:24789910 20170411 RGD 61995 Pten phosphatase and tensin homolog gene DOID:9923 developmental coordination disorder ISO RGD:69119 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 61995 Pten phosphatase and tensin homolog gene DOID:9952 acute lymphoblastic leukemia ISS RGD:62287 D RGD:13592920 20180518 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 619950 Itpka inositol-trisphosphate 3-kinase A gene DOID:2717 Bloom syndrome ISO RGD:732603 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 619950 Itpka inositol-trisphosphate 3-kinase A gene DOID:630 genetic disease ISO RGD:732603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619950 Itpka inositol-trisphosphate 3-kinase A gene DOID:9256 colorectal cancer ISO RGD:732603 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0050700 cardiomyopathy ISO RGD:1620890 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0050848 obstructive sleep apnea IEP D RGD:4890033|PMID:19323616 20101214 RGD mRNA:increased expression:heart left ventricle, liver 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730823 D RGD:2312343|PMID:16107775 20090807 RGD DNA:polymorphism: :3435C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0060041 autism spectrum disorder ISO RGD:730823 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0060750 familial temporal lobe epilepsy 3 ISO RGD:730823 D RGD:11041150|PMID:24590840 20160322 RGD mRNA, protein:increased expression:hippocampus, temporal lobe (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0060750 familial temporal lobe epilepsy 3 ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MDR1 POLYMORPHISM PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:11040992|PMID:22112382 20160318 RGD mRNA:increased expression:liver (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0080600 COVID-19 ISO RGD:730823 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma severity ISO RGD:730823 D RGD:8657087|PMID:18756548 20140530 RGD Nasal Type;protein:increased expression:nasal cavity (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:7240710 20160713 OMIM 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 13 PMID:14610718|PMID:16434479|PMID:25741868|PMID:9820555 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:10652 Alzheimer's disease ISO RGD:1620890 D RGD:13801010|PMID:25991605 20181025 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:114 heart disease ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1168 familial hyperlipidemia ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:730823 D RGD:11574565|PMID:26922556 20190826 RGD DNA:SNP::2677G>T/A(rs2032582)(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:11832 visual epilepsy IEP D RGD:8657333|PMID:12423380 20140604 RGD Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1227 neutropenia ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16950614|PMID:25007187 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:12365 malaria ISO RGD:730823 D RGD:39457680|PMID:19331170 20201006 RGD DNA:hypermethylation:promoter 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:12365 malaria susceptibility ISO RGD:730823 D RGD:39457679|PMID:28422980 20201006 RGD DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:39456120|PMID:28934955 20201005 RGD DNA:SNP: :c3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:39456123|PMID:17015054 20201005 RGD DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:13241 Behcet's disease ISO RGD:730823 D RGD:8657073|PMID:22705826 20140529 RGD DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:13250 diarrhea ISO RGD:1620890 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:13548 secondary Parkinson disease ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:14330 Parkinson's disease ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20558393 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:14566 disease of cellular proliferation ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22269388 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:150 disease of mental health ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17015054 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1682 congenital heart disease ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23874772 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1824 status epilepticus ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14706787 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1826 epilepsy ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8001500|PMID:19570321 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1826 epilepsy ISO RGD:730823 D RGD:1358366|PMID:12686700 20090820 RGD DNA:SNP: :3435C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1826 epilepsy treatment IEP D RGD:13524859|PMID:28303499 20180501 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730823 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2154 nephroblastoma disease_progression ISO RGD:730823 D RGD:2315560|PMID:11888090 20100104 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2394 ovarian cancer disease_progression ISO RGD:730823 D RGD:2315556|PMID:19603017 20100104 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2841 asthma ISO RGD:730823 D RGD:4890020|PMID:19484671 20070405 RGD protein:increased expression:blood, lymphocyte 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2917 cryoglobulinemia susceptibility ISO RGD:730823 D RGD:14700902|PMID:28453396 20190826 RGD associated with hepatitis C;DNA:SNP: :3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:730823 D RGD:11098541|PMID:26067842 20201002 RGD DNA:SNP: :2677G>A (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2987 familial Mediterranean fever no_association ISO RGD:730823 D RGD:39456097|PMID:23408444 20201002 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:730823 D RGD:39456095|PMID:24773260 20201002 RGD DNA:SNP,haplotype:exon:3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:2987 familial Mediterranean fever treatment ISO RGD:730823 D RGD:39456094|PMID:17610314 20201002 RGD DNA:SNP: :3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:730823 D RGD:2315549|PMID:19879256 20100104 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:305 carcinoma ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3328 temporal lobe epilepsy IEP D RGD:1358367|PMID:15380564 20061204 RGD mRNA:increased expression:dentate gyrus (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3602 toxic encephalopathy ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12352921 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:730823 D RGD:11081146|PMID:17938643 20160526 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: 3435T>C(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3908 lung non-small cell carcinoma ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20627363 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3908 lung non-small cell carcinoma ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730823 D RGD:11080964|PMID:17534875 20160519 RGD DNA:SNPs: :2677G>T, 3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:3948 adrenocortical carcinoma ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:4450 renal cell carcinoma ISO RGD:730823 D RGD:2315559|PMID:12089380 20100104 RGD DNA:polymorphism: :3435C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730823 D RGD:2315557|PMID:17177989 20100104 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:4481 allergic rhinitis severity ISO RGD:730823 D RGD:8657076|PMID:24040855 20140603 RGD DNA:snp:exon:c.1236C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730823 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:526 human immunodeficiency virus infectious disease IEP D RGD:11041168|PMID:24472536 20160323 RGD mRNA:altered expression:brain, heart, kidney (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:730823 D RGD:39456096|PMID:27334660 20201002 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730823 D RGD:39456100|PMID:23133441 20201002 RGD DNA:SNPs: :4036A>G, 1236C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730823 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:557 kidney disease ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730823 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:574 peripheral nervous system disease ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16950614 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1620890 D RGD:8657097|PMID:12615699 20140530 RGD mRNA:increased expression:small intestine (mouse) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:630 genetic disease ISO RGD:730823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:11098698|PMID:24517233 20201006 RGD DNA:SNP: : rs10276036(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:39456119|PMID:23372834 20201005 RGD DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:684 hepatocellular carcinoma IEP D RGD:11041138|PMID:25625052 20160322 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:684 hepatocellular carcinoma ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17510421 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:14700904|PMID:23488625 20190826 RGD DNA:polymorphism: : c.1465C > T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:14700905|PMID:24175826 20190826 RGD DNA:polymorphism: :c.3751G>A(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:7148 rheumatoid arthritis ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20080907|PMID:22104130 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:769 neuroblastoma ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:783 end stage renal disease IEP D RGD:2301067|PMID:17135344 20061206 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:730823 D RGD:11081180|PMID:26250462 20160531 RGD DNA:SNP, haplotype: :3435C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730823 D RGD:11081178|PMID:24581936 20160531 RGD DNA:SNPs: :1236T>C,2677G>A(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:8577 ulcerative colitis susceptibility ISO RGD:730823 D RGD:1598568|PMID:15505619 20061214 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:863 nervous system disease ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17015054|PMID:21064136 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:8677 perinatal necrotizing enterocolitis susceptibility ISO RGD:1620890 D RGD:8657143|PMID:21788941 20140603 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:8778 Crohn's disease susceptibility ISO RGD:730823 D RGD:1598568|PMID:15505619 20061214 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000046 Poisoning ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23562926 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000117 Esophageal Neoplasms ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:730823 D RGD:2315562|PMID:9713510 20100104 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000641 Pain ISO RGD:1620890 D RGD:11554173 20171010 CTD CTD Direct Evidence: therapeutic PMID:28193520 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000740 ST Elevation Myocardial Infarction treatment ISO RGD:730823 D RGD:14700903|PMID:25217066 20190826 RGD DNA:SNPs: :rs1045642,rs7779562(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000918 Disease Progression ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20627363 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9000965 Neoplasm Metastasis ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9001371 Eosinophilia ISO RGD:730823 D RGD:8657092|PMID:24717943 20140530 RGD associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9001472 Nasal Polyps ISO RGD:730823 D RGD:8657074|PMID:22223515 20140529 RGD associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16182555 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9001827 Critical Illness treatment ISO RGD:730823 D RGD:39456099|PMID:29979333 20201002 RGD DNA:SNP:exon:3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2306659|PMID:16225763 20170106 RGD mRNA:increased expression:placenta 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002265 Kidney Neoplasms ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002457 Experimental Arthritis IEP D RGD:11040994|PMID:17827786 20160318 RGD mRNA:decreased expression:intestinal mucosa (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002457 Experimental Arthritis IEP D RGD:2315573|PMID:19152228 20100105 RGD mRNA:altered expression:liver 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002457 Experimental Arthritis ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17827786 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002762 Ovarian Neoplasms ISO RGD:730823 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16467099 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9002953 Escherichia Coli Infections ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24498193 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9003971 Postoperative Pain ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20627697 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004009 Reperfusion Injury ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730823 D RGD:11574565|PMID:26922556 20190826 RGD DNA:SNP::2677G>T/A(rs2032582)(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730823 D RGD:14700907|PMID:29155127 20190826 RGD DNA:SNP: :3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:11080964|PMID:17534875 20160519 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:11080979|PMID:25007187 20160520 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:11081001|PMID:22271208 20160523 RGD Breast Neoplasms;DNA:SNP: :3435 C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9004751 Nausea ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1620890 D RGD:2315553|PMID:19654309 20100104 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005372 Inflammation IEP D RGD:11041153|PMID:24515798 20160322 RGD mRNA:decreased expression:jejunum, ileum, intestinal mucosa (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005643 Experimental Diabetes Mellitus IAGP D RGD:1598559|PMID:17074306 20090811 RGD protein: decreased expression 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312730|PMID:17664251 20160921 RGD mRNA:increased expression:brain 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005643 Experimental Diabetes Mellitus disease_progression IEP D RGD:11041112|PMID:26460146 20160321 RGD mRNA:increased expression:ileum, intestinal mucosa (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:8657121|PMID:21685928 20140603 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005930 Endotoxemia IEP D RGD:11041000|PMID:26977098 20160318 RGD mRNA:decreased expression:liver (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9005950 Orthostatic Hypotension ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12082591 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9006532 Hematologic Neoplasms ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1620890 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:24502637|PMID:28193520|PMID:32387182 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:20563569|PMID:21064136|PMID:25007187 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1620890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26134275 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1620890 D RGD:11041130|PMID:26134275 20160322 RGD 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730823 D RGD:14700895|PMID:27296832 20190826 RGD DNA:SNP::2677G>T/A(rs2032582)(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007432 Latent Tuberculosis ISO RGD:730823 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007659 Anthracycline-induced Cardiotoxicity susceptibility ISO RGD:730823 D RGD:11041175|PMID:16330681 20160323 RGD DNA:missense mutation:cds:p.G671V (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9007973 Genetic Translocation ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9008114 Helicobacter Infections no_association ISO RGD:730823 D RGD:39456122|PMID:27611887 20201005 RGD DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9008114 Helicobacter Infections sexual_dimorphism ISO RGD:730823 D RGD:39456093|PMID:22001987 20201005 RGD associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9008385 Vomiting ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766|PMID:23977225 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:2315550|PMID:19752884 20100104 RGD DNA:polymorphism: :3435C>T (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:730823 D RGD:2312331|PMID:19470683 20090806 RGD DNA:polymorphism:exon (human) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9505 cannabis abuse ISO RGD:730823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19625010 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9588 encephalitis IEP D RGD:8657083|PMID:12746221 20140529 RGD mRNA:decreased expression:brain, liver (rat) 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730823 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 619951 Abcb1a ATP binding cassette subfamily B member 1A gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730823 D RGD:8657089|PMID:22674224 20140530 RGD DNA:snps, haplotype:multiple (human) 619952 Nsfl1c NSFL1 cofactor gene DOID:630 genetic disease ISO RGD:734170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619953 Mafg MAF bZIP transcription factor G gene DOID:0080600 COVID-19 ISO RGD:1352039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619953 Mafg MAF bZIP transcription factor G gene DOID:1852 intrahepatic cholestasis ISO RGD:1352039 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 619953 Mafg MAF bZIP transcription factor G gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352039 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 619953 Mafg MAF bZIP transcription factor G gene DOID:630 genetic disease ISO RGD:1352039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619954 Fut4 fucosyltransferase 4 gene DOID:0060903 thrombosis ISO RGD:1342617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 619954 Fut4 fucosyltransferase 4 gene DOID:1059 intellectual disability ISO RGD:1342617 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 619954 Fut4 fucosyltransferase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1342617 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 619954 Fut4 fucosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1342617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619955 Fut9 fucosyltransferase 9 gene DOID:630 genetic disease ISO RGD:732098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619956 Zbp1 Z-DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1351033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619957 Wfdc18 WAP four-disulfide core domain 18 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:632771|PMID:3136918 20090213 RGD associated with Mammary Neoplasms, Experimental;mRNA:increased expression 619958 Pdzd2 PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619958 Pdzd2 PDZ domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735643 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619958 Pdzd2 PDZ domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735643 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 619959 Afap1 actin filament associated protein 1 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1605642 D RGD:13673886|PMID:25173105 20180627 RGD DNA:SNPs: :rs4619890,rs4478172(human) 619959 Afap1 actin filament associated protein 1 gene DOID:630 genetic disease ISO RGD:1605642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 61996 F2 coagulation factor II gene DOID:0060903 thrombosis IDA D RGD:7387314|PMID:22402172 20131029 RGD 61996 F2 coagulation factor II gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1279834|PMID:10064001|PMID:11132655|PMID:17245631 61996 F2 coagulation factor II gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:6893603|PMID:21070754 20120912 RGD DNA:mutation: :20210G>A (human) 61996 F2 coagulation factor II gene DOID:0060903 thrombosis ISO RGD:62288 D RGD:7387259|PMID:21605330 20131024 RGD 61996 F2 coagulation factor II gene DOID:0060903 thrombosis no_association ISO RGD:1353256 D RGD:7394765|PMID:12632020 20131104 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) 61996 F2 coagulation factor II gene DOID:0060903 thrombosis treatment IEP D RGD:11035267|PMID:17293494 20160215 RGD 61996 F2 coagulation factor II gene DOID:0060903 thrombosis treatment ISO RGD:62288 D RGD:10449423|PMID:15039280 20151229 RGD associated with Carotid Artery Injuries 61996 F2 coagulation factor II gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1353256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 61996 F2 coagulation factor II gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 61996 F2 coagulation factor II gene DOID:0080600 COVID-19 disease_progression ISO RGD:1353256 D RGD:30296681|PMID:32345579 20200616 RGD associated with diabetes mellitus 61996 F2 coagulation factor II gene DOID:0080600 COVID-19 severity ISO RGD:1353256 D RGD:30296673|PMID:32198776 20200616 RGD 61996 F2 coagulation factor II gene DOID:0080600 COVID-19 severity ISO RGD:1353256 D RGD:30296679|PMID:32302954 20200616 RGD 61996 F2 coagulation factor II gene DOID:0080600 COVID-19 severity ISO RGD:1353256 D RGD:30309962|PMID:32350161 20200623 RGD 61996 F2 coagulation factor II gene DOID:0080652 calcium oxalate nephrolithiasis IEP D RGD:6893592|PMID:16981243 20120911 RGD mRNA:decreased expression:kidney 61996 F2 coagulation factor II gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1353256 D RGD:11565081|PMID:9129025 20161118 RGD protein:increased expression:plasma: 61996 F2 coagulation factor II gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:22716977|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31582550|PMID:32194638|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 61996 F2 coagulation factor II gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:7387261|PMID:17334320 20131024 RGD DNA:transition: :20210G>A (human) 61996 F2 coagulation factor II gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:7387268|PMID:18636032 20140130 RGD associated with Stroke 61996 F2 coagulation factor II gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1353256 D RGD:7387240|PMID:16572609 20131024 RGD DNA:transition: :20210G>A(human) 61996 F2 coagulation factor II gene DOID:10283 prostate cancer ISO RGD:1353256 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 61996 F2 coagulation factor II gene DOID:1059 intellectual disability ISO RGD:1353256 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 61996 F2 coagulation factor II gene DOID:10591 pre-eclampsia severity ISO RGD:1353256 D RGD:6893628|PMID:16246971 20120912 RGD DNA:polymorphism: :20210G>A(human) 61996 F2 coagulation factor II gene DOID:10608 celiac disease ISO RGD:1353256 D RGD:7387257|PMID:23556408 20131024 RGD 61996 F2 coagulation factor II gene DOID:10652 Alzheimer's disease ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8333868 61996 F2 coagulation factor II gene DOID:10923 sickle cell anemia ISO RGD:1353256 D RGD:11565080|PMID:8191393 20161118 RGD protein:increased expression:plasma: 61996 F2 coagulation factor II gene DOID:10923 sickle cell anemia disease_progression ISO RGD:62288 D RGD:11565074|PMID:26286849 20161117 RGD 61996 F2 coagulation factor II gene DOID:11054 urinary bladder cancer severity ISO RGD:1353256 D RGD:6893573|PMID:22236518 20120910 RGD protein:increased expression:urine 61996 F2 coagulation factor II gene DOID:11247 disseminated intravascular coagulation IDA D RGD:10449432|PMID:23737601 20151230 RGD 61996 F2 coagulation factor II gene DOID:11247 disseminated intravascular coagulation IDA D RGD:6893489|PMID:22229668 20120831 RGD 61996 F2 coagulation factor II gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:10449422|PMID:19682336 20151229 RGD associated with Wounds and Injuries 61996 F2 coagulation factor II gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:10449429|PMID:1336986 20151230 RGD 61996 F2 coagulation factor II gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1894189 61996 F2 coagulation factor II gene DOID:11695 portal vein thrombosis severity ISO RGD:1353256 D RGD:14985237|PMID:28465646 20191119 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) 61996 F2 coagulation factor II gene DOID:12134 factor VIII deficiency treatment ISO RGD:1353256 D RGD:11565076|PMID:26635073 20161117 RGD 61996 F2 coagulation factor II gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:40818435|PMID:21866301 20201124 RGD protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:5147778|PMID:20699256 20110818 RGD 61996 F2 coagulation factor II gene DOID:12205 dengue disease ISO RGD:1353256 D RGD:40818430|PMID:22138554 20201123 RGD 61996 F2 coagulation factor II gene DOID:12259 hemophilia B treatment ISO RGD:1353256 D RGD:11565076|PMID:26635073 20161117 RGD 61996 F2 coagulation factor II gene DOID:1247 blood coagulation disease ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 61996 F2 coagulation factor II gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353256 D RGD:40818428|PMID:9423793 20201123 RGD associated with diarrhea;protein:increased expression:plasma (human) 61996 F2 coagulation factor II gene DOID:12858 Huntington's disease ISO RGD:1353256 D RGD:5147768|PMID:21297956 20110818 RGD protein:increased expression:cerebrospinal fluid 61996 F2 coagulation factor II gene DOID:13001 carotid stenosis ISO RGD:1353256 D RGD:5509914|PMID:15748240 20111111 RGD DNA:SNP:3'-UTR:in men only (human) 61996 F2 coagulation factor II gene DOID:14115 toxic shock syndrome severity ISO RGD:1353256 D RGD:40822807|PMID:2788582 20201130 RGD protein:decreased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1353256 D RGD:11565081|PMID:9129025 20161118 RGD protein:increased expression:plasma: 61996 F2 coagulation factor II gene DOID:1555 urticaria ISO RGD:1353256 D RGD:5147756|PMID:21488867 20110818 RGD protein:increased expression:plasma 61996 F2 coagulation factor II gene DOID:1727 retinal vein occlusion ISO RGD:1353256 D RGD:7387258|PMID:22800650 20131024 RGD 61996 F2 coagulation factor II gene DOID:1727 retinal vein occlusion no_association ISO RGD:1353256 D RGD:7394774|PMID:14994919 20131104 RGD DNA:SNP: :20210G>A (human) 61996 F2 coagulation factor II gene DOID:1883 hepatitis C treatment ISO RGD:1353256 D RGD:40818432|PMID:28129465 20201123 RGD 61996 F2 coagulation factor II gene DOID:1936 atherosclerosis treatment IDA D RGD:7387315|PMID:20979870 20131029 RGD 61996 F2 coagulation factor II gene DOID:1969 cerebral palsy ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:2048 autoimmune hepatitis ISO RGD:1353256 D RGD:5147775|PMID:20821236 20110818 RGD 61996 F2 coagulation factor II gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:1353256 D RGD:5147750|PMID:21711423 20110818 RGD 61996 F2 coagulation factor II gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:10449424|PMID:14629473 20151229 RGD DNA:missense mutations, deletion, splice-site mutation: :multiple 61996 F2 coagulation factor II gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:10449425|PMID:8839854 20151229 RGD DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human) 61996 F2 coagulation factor II gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3567158|PMID:7740448 61996 F2 coagulation factor II gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:1601108|PMID:1349838 20070406 RGD DNA:missense mutation: :p.R418W (human) 61996 F2 coagulation factor II gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:13228032|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:2297 leptospirosis ISO RGD:1353256 D RGD:40818429|PMID:18171258 20201123 RGD protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:2297 leptospirosis severity ISO RGD:1353256 D RGD:40819859|PMID:20002620 20201124 RGD protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:2316 brain ischemia ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14753426|PMID:15534175 61996 F2 coagulation factor II gene DOID:2394 ovarian cancer ISO RGD:1353256 D RGD:5147781|PMID:21833453 20110819 RGD 61996 F2 coagulation factor II gene DOID:2452 thrombophilia IDA D RGD:7387320|PMID:21232185 20131029 RGD 61996 F2 coagulation factor II gene DOID:2452 thrombophilia ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 61996 F2 coagulation factor II gene DOID:2527 nephrosis IMP D RGD:6893577|PMID:18541230 20120910 RGD 61996 F2 coagulation factor II gene DOID:2527 nephrosis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18541230 61996 F2 coagulation factor II gene DOID:2841 asthma ISO RGD:1353256 D RGD:5147753|PMID:21658190 20110818 RGD protein:increased expression:plasma 61996 F2 coagulation factor II gene DOID:2841 asthma ISO RGD:1353256 D RGD:5147783|PMID:21711961 20110819 RGD associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus 61996 F2 coagulation factor II gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:6893586|PMID:17519558 20120911 RGD 61996 F2 coagulation factor II gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:6893593|PMID:15164604 20120911 RGD protein:increased expression;urine 61996 F2 coagulation factor II gene DOID:2987 familial Mediterranean fever ISO RGD:1353256 D RGD:40818434|PMID:16721492 20201124 RGD protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:3070 high grade glioma treatment IMP D RGD:1578509|PMID:15975137 19990101 RGD 61996 F2 coagulation factor II gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353256 D RGD:5147752|PMID:21660493 20110818 RGD 61996 F2 coagulation factor II gene DOID:3310 atopic dermatitis ISO RGD:1353256 D RGD:5147756|PMID:21488867 20110818 RGD protein:increased expression:plasma 61996 F2 coagulation factor II gene DOID:3393 coronary artery disease treatment ISO RGD:1353256 D RGD:10449426|PMID:14961168 20151229 RGD 61996 F2 coagulation factor II gene DOID:3525 middle cerebral artery infarction ISO RGD:1353256 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:29651748 61996 F2 coagulation factor II gene DOID:3526 cerebral infarction ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ischemic stroke | ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:3526 cerebral infarction susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 61996 F2 coagulation factor II gene DOID:3572 intracranial sinus thrombosis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12269725 61996 F2 coagulation factor II gene DOID:3770 pulmonary fibrosis ISO RGD:62288 D RGD:5147767|PMID:21312187 20110818 RGD 61996 F2 coagulation factor II gene DOID:418 systemic scleroderma ISO RGD:1353256 D RGD:11565087|PMID:9374919 20161118 RGD protein:increased expression:plasma: 61996 F2 coagulation factor II gene DOID:4195 hyperglycemia ISO RGD:1353256 D RGD:2313851|PMID:18487475 20091022 RGD associated with Myocardial Infarction 61996 F2 coagulation factor II gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353256 D RGD:6893520|PMID:22065054 20120905 RGD protein:increased expression:brain 61996 F2 coagulation factor II gene DOID:4481 allergic rhinitis ISO RGD:1353256 D RGD:5147783|PMID:21711961 20110819 RGD protein:increased expression:nasal mucus 61996 F2 coagulation factor II gene DOID:4724 brain edema IEP D RGD:5490126|PMID:20541575 20120321 RGD associated with Cerebral Hemorrhage 61996 F2 coagulation factor II gene DOID:5082 liver cirrhosis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 61996 F2 coagulation factor II gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:14401592|PMID:9863491 20191119 RGD protein:increased expression:plasma (human) 61996 F2 coagulation factor II gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:14985235|PMID:29768734 20191119 RGD protein:decreased expression:plasma (human) 61996 F2 coagulation factor II gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:14985236|PMID:15726661 20191119 RGD protein:decreased activity:plasma (human) 61996 F2 coagulation factor II gene DOID:5419 schizophrenia ISO RGD:1353256 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 61996 F2 coagulation factor II gene DOID:5614 eye disease ISO RGD:1353256 D RGD:7394769|PMID:15077257 20131104 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) 61996 F2 coagulation factor II gene DOID:5844 myocardial infarction ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9292507|PMID:9531249|PMID:10027711 61996 F2 coagulation factor II gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353256 D RGD:1581022|PMID:12480694 20161118 RGD DNA:polymorphism::20210G>A(human) 61996 F2 coagulation factor II gene DOID:630 genetic disease ISO RGD:1353256 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31582550|PMID:32194638 61996 F2 coagulation factor II gene DOID:684 hepatocellular carcinoma ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2821104 61996 F2 coagulation factor II gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353256 D RGD:14975114|PMID:7620113 20191119 RGD associated with liver cirrhosis;protein:altered expression, altered processing:liver (human) 61996 F2 coagulation factor II gene DOID:7148 rheumatoid arthritis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 61996 F2 coagulation factor II gene DOID:783 end stage renal disease treatment IDA D RGD:7387323|PMID:22473220 20131029 RGD 61996 F2 coagulation factor II gene DOID:8337 appendicitis ISO RGD:1353256 D RGD:5147751|PMID:21663567 20110818 RGD 61996 F2 coagulation factor II gene DOID:8506 bullous pemphigoid ISO RGD:1353256 D RGD:5147756|PMID:21488867 20110818 RGD protein:increased expression:plasma 61996 F2 coagulation factor II gene DOID:8536 herpes zoster treatment ISO RGD:1353256 D RGD:40818431|PMID:11449671 20201123 RGD 61996 F2 coagulation factor II gene DOID:8577 ulcerative colitis ISO RGD:1353256 D RGD:5147754|PMID:21593018 20110818 RGD 61996 F2 coagulation factor II gene DOID:874 bacterial pneumonia IEP D RGD:6893486|PMID:21897338 20120831 RGD protein:increased expression:lung 61996 F2 coagulation factor II gene DOID:8778 Crohn's disease ISO RGD:1353256 D RGD:5147754|PMID:21593018 20110818 RGD 61996 F2 coagulation factor II gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2303423|PMID:16344894 20131029 RGD 61996 F2 coagulation factor II gene DOID:9000040 Hypertrophy ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26385185 61996 F2 coagulation factor II gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353256 D RGD:11565086|PMID:16649726 20161118 RGD associated with Myocardial Infarction;protein:increased expression:plasma: 61996 F2 coagulation factor II gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353256 D RGD:6893520|PMID:22065054 20120905 RGD associated with Carcinoma, Small cell;protein:increased expression:brain 61996 F2 coagulation factor II gene DOID:9000998 Brain Injuries severity ISO RGD:1353256 D RGD:5147766|PMID:21355766 20110818 RGD 61996 F2 coagulation factor II gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1353256 D RGD:11041730|PMID:22624582 20161117 RGD protein:increased expression:plasma: 61996 F2 coagulation factor II gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1353256 D RGD:5147784|PMID:21496882 20110819 RGD 61996 F2 coagulation factor II gene DOID:9001708 Hemorrhagic Shock IEP D RGD:5132267|PMID:21550061 20110518 RGD protein:decreased activity:blood (rat) 61996 F2 coagulation factor II gene DOID:9001747 Ventricular Dysfunction, Left severity ISO RGD:1353256 D RGD:11565083|PMID:16122628 20161118 RGD associated with Muscular Dystrophy, Duchenne 61996 F2 coagulation factor II gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:2313643|PMID:14983223 20201120 RGD protein:increased expression:plasma (human) 61996 F2 coagulation factor II gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:6893575|PMID:21574459 20120910 RGD DNA:polymorphism: :20210G>A(human) 61996 F2 coagulation factor II gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1353256 D RGD:6893574|PMID:21955218 20120910 RGD 61996 F2 coagulation factor II gene DOID:9002211 Hyperalgesia ISO RGD:62288 D RGD:7387272|PMID:16251448 20131025 RGD associated with Sciatic Neuropathy 61996 F2 coagulation factor II gene DOID:9002315 Kidney Calculi susceptibility ISO RGD:1353256 D RGD:6893526|PMID:21067798 20120905 RGD DNA:haplotypes: : 61996 F2 coagulation factor II gene DOID:9002331 Knee Osteoarthritis ISO RGD:1353256 D RGD:5147774|PMID:21041276 20110818 RGD 61996 F2 coagulation factor II gene DOID:9002457 Experimental Arthritis ISO RGD:62288 D RGD:5147764|PMID:21436072 20110818 RGD 61996 F2 coagulation factor II gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353256 D RGD:5147770|PMID:21244583 20110818 RGD protein:increased expression:plasma 61996 F2 coagulation factor II gene DOID:9002955 Nerve Degeneration ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19969022 61996 F2 coagulation factor II gene DOID:9003049 Femur Head Necrosis ISO RGD:1353256 D RGD:6902907|PMID:16968732 20120921 RGD associated with kidney transplantation;20210G>A(human) 61996 F2 coagulation factor II gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14693181 61996 F2 coagulation factor II gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:1580340|PMID:11471205 19990101 RGD 61996 F2 coagulation factor II gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:40819860|PMID:15049384 20201124 RGD associated with infective endocarditis;protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:6893596|PMID:21955693 20120911 RGD associated with coronary artery disease; DNA:polymorphism: :20210G>A(human) 61996 F2 coagulation factor II gene DOID:9003281 Spontaneous Abortions ISO RGD:1353256 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:28492532|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:9003311 Urinary Calculi ISO RGD:1353256 D RGD:6893519|PMID:22494008 20120905 RGD 61996 F2 coagulation factor II gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:10449100|PMID:25665832 20151216 RGD DNA:mutation: :20210G>A (human) 61996 F2 coagulation factor II gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12411922 61996 F2 coagulation factor II gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:5147763|PMID:21464402 20110818 RGD associated with Neoplasms 61996 F2 coagulation factor II gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:9003565 Paratuberculosis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 61996 F2 coagulation factor II gene DOID:9003871 Venous Thrombosis IMP D RGD:10449430|PMID:23535565 20151230 RGD 61996 F2 coagulation factor II gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9869612|PMID:12296757|PMID:19920886 61996 F2 coagulation factor II gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:1580342|PMID:9409269 19990101 RGD 61996 F2 coagulation factor II gene DOID:9004009 Reperfusion Injury IMP D RGD:5147777|PMID:20705928 20110818 RGD 61996 F2 coagulation factor II gene DOID:9004082 Mesenteric Ischemia ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 61996 F2 coagulation factor II gene DOID:9004484 Sepsis ISO RGD:1353256 D RGD:10449428|PMID:12361199 20151229 RGD 61996 F2 coagulation factor II gene DOID:9004484 Sepsis treatment IDA D RGD:7387324|PMID:19705256 20131029 RGD 61996 F2 coagulation factor II gene DOID:9004610 Acute Lung Injury IDA D RGD:7387313|PMID:22804886 20131029 RGD 61996 F2 coagulation factor II gene DOID:9005166 Contusions IEP D RGD:7387307|PMID:11186232 20131029 RGD associated with Spinal Cord Injuries;mRNA:increased expression:spinal cord 61996 F2 coagulation factor II gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62288 D RGD:2313862|PMID:15990447 20091022 RGD protein:increased expression:kidney 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia IDA D RGD:5147765|PMID:21396682 20110818 RGD 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia IDA D RGD:5147779|PMID:20519137 20110819 RGD 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia IEP D RGD:6893482|PMID:22227956 20120831 RGD 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia ISO RGD:1353256 D RGD:40818427|PMID:10887118 20201123 RGD protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:14401592|PMID:9863491 20191119 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:14974253|PMID:7615203 20201124 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia treatment IDA D RGD:10449434|PMID:25396762 20151230 RGD 61996 F2 coagulation factor II gene DOID:9005930 Endotoxemia treatment ISO RGD:1353256 D RGD:40818436|PMID:10604885 20201124 RGD 61996 F2 coagulation factor II gene DOID:9007075 Congenital Prothrombin Deficiency ISO RGD:1353256 D RGD:11565075|PMID:11154146 20161117 RGD DNA:deletion, missense mutations:cds: 61996 F2 coagulation factor II gene DOID:9007075 Congenital Prothrombin Deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:10651742|PMID:11154146|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:12149217|PMID:13217497|PMID:13228032|PMID:1349838|PMID:1421398|PMID:14489469|PMID:15059842|PMID:15534175|PMID:1557383|PMID:16487178|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2719946|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:3242619|PMID:34110897|PMID:34355501|PMID:3567158|PMID:3771562|PMID:3801671|PMID:444582|PMID:6085205|PMID:625142|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:9007075 Congenital Prothrombin Deficiency susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 61996 F2 coagulation factor II gene DOID:9007096 Stroke ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 61996 F2 coagulation factor II gene DOID:9007096 Stroke ISO RGD:1353256 D RGD:5147755|PMID:21512172 20110818 RGD 61996 F2 coagulation factor II gene DOID:9007096 Stroke ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1353256 D RGD:5147769|PMID:21287673 20110818 RGD 61996 F2 coagulation factor II gene DOID:9007329 Human Viral Hepatitis disease_progression ISO RGD:1353256 D RGD:5147782|PMID:21805422 20110819 RGD 61996 F2 coagulation factor II gene DOID:9007367 Septic Peritonitis severity ISO RGD:62288 D RGD:40818433|PMID:18927430 20201124 RGD 61996 F2 coagulation factor II gene DOID:9007479 Habitual Abortions ISO RGD:1353256 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 61996 F2 coagulation factor II gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1353256 D RGD:7240710 20230517 OMIM 61996 F2 coagulation factor II gene DOID:9007874 Liver Failure ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18618250 61996 F2 coagulation factor II gene DOID:9007874 Liver Failure severity ISO RGD:1353256 D RGD:14974253|PMID:7615203 20191119 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) 61996 F2 coagulation factor II gene DOID:9008217 Hemorrhage IDA D RGD:10449433|PMID:23481505 20151230 RGD associated with Wounds and Injuries 61996 F2 coagulation factor II gene DOID:9008217 Hemorrhage IMP D RGD:10449431|PMID:20664909 20151230 RGD 61996 F2 coagulation factor II gene DOID:9008217 Hemorrhage ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7740448 61996 F2 coagulation factor II gene DOID:9008217 Hemorrhage ISO RGD:62288 D RGD:734956|PMID:9636195 20151229 RGD 61996 F2 coagulation factor II gene DOID:9074 systemic lupus erythematosus ISO RGD:1353256 D RGD:5147776|PMID:20807656 20110818 RGD 61996 F2 coagulation factor II gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353256 D RGD:5147772|PMID:21239755 20110818 RGD DNA:SNP: :19911A>G (rs3136516) (human) 61996 F2 coagulation factor II gene DOID:9279 hyperhomocysteinemia treatment IDA D RGD:1601105|PMID:16046705 20160121 RGD 61996 F2 coagulation factor II gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:2313851|PMID:18487475 20110819 RGD associated with Myocardial Infarction 61996 F2 coagulation factor II gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:2313852|PMID:17971179 20091022 RGD protein:increased expression:plasma 61996 F2 coagulation factor II gene DOID:9452 fatty liver disease ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 61996 F2 coagulation factor II gene DOID:9477 pulmonary embolism no_association ISO RGD:1353256 D RGD:10449427|PMID:25316662 20151229 RGD DNA:SNP:3' utr:20221C>T (human) 61996 F2 coagulation factor II gene DOID:9477 pulmonary embolism susceptibility ISO RGD:1353256 D RGD:10449427|PMID:25316662 20151229 RGD DNA:SNP:3' utr:19911A>G (human) 61996 F2 coagulation factor II gene DOID:9540 vascular skin disease ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17535202 61996 F2 coagulation factor II gene DOID:9970 obesity IDA D RGD:7387310|PMID:23628972 20131029 RGD 61996 F2 coagulation factor II gene DOID:9970 obesity ISO RGD:1353256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 61996 F2 coagulation factor II gene DOID:9970 obesity ISO RGD:1353256 D RGD:5147773|PMID:21210148 20110818 RGD 619960 Prx periaxin gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:25614874|PMID:26059842|PMID:28492532 619960 Prx periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:7240710 20180425 OMIM 619960 Prx periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:20301641|PMID:21079185|PMID:22847150|PMID:24033266|PMID:24078732|PMID:25326635|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26467025|PMID:28492532|PMID:31673878|PMID:32376792 619960 Prx periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:9536098 619960 Prx periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32460404|PMID:32665875|PMID:9536098 619960 Prx periaxin gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 619960 Prx periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:7240710 20140911 OMIM 619960 Prx periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:28492532|PMID:29623298|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32214227|PMID:32376792 619960 Prx periaxin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 619960 Prx periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:30724636|PMID:31523542|PMID:32376792 619960 Prx periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29623298|PMID:30724636|PMID:31523542|PMID:32376792|PMID:32460404 619960 Prx periaxin gene DOID:12377 spinal muscular atrophy ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 619960 Prx periaxin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 619960 Prx periaxin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 619960 Prx periaxin gene DOID:2340 craniosynostosis ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 619960 Prx periaxin gene DOID:2477 motor peripheral neuropathy ISO RGD:1351983 D RGD:11554173 20180807 CTD CTD Direct Evidence: marker/mechanism 619960 Prx periaxin gene DOID:574 peripheral nervous system disease ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878 619960 Prx periaxin gene DOID:630 genetic disease ISO RGD:1351983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11133365|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:19837996|PMID:20301641|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:28492532|PMID:29623298|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32665875 619960 Prx periaxin gene DOID:83 cataract ISO RGD:1351983 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 619960 Prx periaxin gene DOID:870 neuropathy ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878 619960 Prx periaxin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 619960 Prx periaxin gene DOID:9269 maple syrup urine disease ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 619960 Prx periaxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 619961 Exoc2 exocyst complex component 2 gene DOID:10283 prostate cancer ISO RGD:1348584 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619961 Exoc2 exocyst complex component 2 gene DOID:630 genetic disease ISO RGD:1348584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619961 Exoc2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:7240710 20210623 OMIM 619961 Exoc2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia PMID:32639540 619962 Npepps aminopeptidase puromycin sensitive gene DOID:630 genetic disease ISO RGD:1354170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619963 Stambp Stam binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 619963 Stambp Stam binding protein gene DOID:10907 microcephaly ISO RGD:1606575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 619963 Stambp Stam binding protein gene DOID:1826 epilepsy ISO RGD:1606575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 619963 Stambp Stam binding protein gene DOID:543 dystonia ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 1 PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 619963 Stambp Stam binding protein gene DOID:630 genetic disease ISO RGD:1606575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619963 Stambp Stam binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 619963 Stambp Stam binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:7240710 20140911 OMIM 619963 Stambp Stam binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome PMID:18414213|PMID:21271646|PMID:21815250|PMID:23542699|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29907875 619963 Stambp Stam binding protein gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1606575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 619963 Stambp Stam binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 619963 Stambp Stam binding protein gene DOID:936 brain disease ISO RGD:1606575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 619964 Trim63 tripartite motif containing 63 gene DOID:0050700 cardiomyopathy ISO RGD:1345707 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19168726 619964 Trim63 tripartite motif containing 63 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 619964 Trim63 tripartite motif containing 63 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1345707 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 619964 Trim63 tripartite motif containing 63 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1345707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 619964 Trim63 tripartite motif containing 63 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 619964 Trim63 tripartite motif containing 63 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345707 D RGD:329812002|PMID:23972212 20230519 RGD mRNA, protein:increased expression:vastus lateralis 619964 Trim63 tripartite motif containing 63 gene DOID:630 genetic disease ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 619964 Trim63 tripartite motif containing 63 gene DOID:767 muscular atrophy IEP D RGD:633893|PMID:11679633 20110928 RGD mRNA:increased expression:gastrocnemius 619964 Trim63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:1345707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 619964 Trim63 tripartite motif containing 63 gene DOID:9003936 Cardiomegaly ISO RGD:1345707 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19168726 619964 Trim63 tripartite motif containing 63 gene DOID:9004462 Atrophy ISO RGD:1345707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19168726 619964 Trim63 tripartite motif containing 63 gene DOID:9884 muscular dystrophy IEP D RGD:14695084|PMID:24710205 20190725 RGD mRNA:increased expression:muscle 619964 Trim63 tripartite motif containing 63 gene DOID:9884 muscular dystrophy IMP D RGD:14695084|PMID:24710205 20201210 RGD dexamethaso-induced and hindlimb denervation 619965 Adcy2 adenylate cyclase 2 gene DOID:2841 asthma ISO RGD:734219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 619965 Adcy2 adenylate cyclase 2 gene DOID:3312 bipolar disorder ISO RGD:734219 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 619965 Adcy2 adenylate cyclase 2 gene DOID:630 genetic disease ISO RGD:734219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619966 Adcy7 adenylate cyclase 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:735780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 619966 Adcy7 adenylate cyclase 7 gene DOID:5419 schizophrenia ISO RGD:735780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 619966 Adcy7 adenylate cyclase 7 gene DOID:630 genetic disease ISO RGD:735780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619966 Adcy7 adenylate cyclase 7 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 619966 Adcy7 adenylate cyclase 7 gene DOID:8577 ulcerative colitis ISO RGD:735780 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:28067910 619966 Adcy7 adenylate cyclase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:735780 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 619967 Stxbp2 syntaxin binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:733592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 619967 Stxbp2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:7240710 20141015 OMIM 619967 Stxbp2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:10788461|PMID:16199547|PMID:17576681|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22336081|PMID:22451424|PMID:22791290|PMID:22796692|PMID:23382066|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:25901543|PMID:26451869|PMID:26684649|PMID:27209435|PMID:27379089|PMID:27577878|PMID:27781387|PMID:27848944|PMID:28353193|PMID:28380445|PMID:28399723|PMID:28492532|PMID:28724787|PMID:28748566|PMID:29599780|PMID:29665027|PMID:30104219|PMID:30697212|PMID:30899265|PMID:31130284|PMID:31388699|PMID:31976148|PMID:32256442|PMID:32542393|PMID:33162974|PMID:33746956|PMID:34050687|PMID:34249802|PMID:36588876|PMID:9536098 619967 Stxbp2 syntaxin binding protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24916509|PMID:25741868|PMID:28399723|PMID:28492532|PMID:32256442|PMID:34050687|PMID:36588876 619967 Stxbp2 syntaxin binding protein 2 gene DOID:2218 blood platelet disease ISO RGD:733592 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 619967 Stxbp2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:28492532|PMID:29665027|PMID:32542393|PMID:34050687 619967 Stxbp2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:27781387|PMID:28492532|PMID:29665027|PMID:32256442|PMID:32542393|PMID:34050687|PMID:34249802|PMID:36588876 619967 Stxbp2 syntaxin binding protein 2 gene DOID:3410 carotid artery thrombosis ISO RGD:733592 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:30696774 619967 Stxbp2 syntaxin binding protein 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 619967 Stxbp2 syntaxin binding protein 2 gene DOID:630 genetic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619967 Stxbp2 syntaxin binding protein 2 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis PMID:16199547|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20823128|PMID:22451424|PMID:22791290|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32256442|PMID:32542393|PMID:33746956|PMID:34050687|PMID:36588876 619967 Stxbp2 syntaxin binding protein 2 gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 619967 Stxbp2 syntaxin binding protein 2 gene DOID:9006173 Mitochondrial Complex IV Deficiency, Nuclear Type 12 ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 619967 Stxbp2 syntaxin binding protein 2 gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:32313153 619967 Stxbp2 syntaxin binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:733592 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 619968 Stxbp3 syntaxin binding protein 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:732509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 619968 Stxbp3 syntaxin binding protein 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:732509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868 619968 Stxbp3 syntaxin binding protein 3 gene DOID:12849 autistic disorder ISO RGD:732509 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619968 Stxbp3 syntaxin binding protein 3 gene DOID:630 genetic disease ISO RGD:732509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619969 Srgn serglycin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345497 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:1824 status epilepticus IEP D RGD:2316522|PMID:18671295 20100215 RGD protein:decreased expression:hippocampus, astrocyte 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:5453 pulmonary venoocclusive disease IDA D RGD:38549370|PMID:32209028 20200901 RGD 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:630 genetic disease ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1345497 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30365877 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220203 RGD 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345497 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:7240710 20150708 OMIM 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4 PMID:23883380|PMID:24033266|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28889099|PMID:29743074|PMID:30578397 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9007096 Stroke ISO RGD:1345497 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9007402 Gliosis ISO RGD:1345497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18671295 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9008681 Deafness IEP D RGD:2316516|PMID:17884299 20100215 RGD mRNA:decreased expression:brain, neuron 61997 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1345497 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23883380 619970 Pcyt2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:7240710 20200226 OMIM 619970 Pcyt2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive PMID:25741868|PMID:28492532|PMID:31637422|PMID:32889549 619970 Pcyt2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:630 genetic disease ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31637422|PMID:32889549 619971 Plvap plasmalemma vesicle associated protein gene DOID:630 genetic disease ISO RGD:1353643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 619971 Plvap plasmalemma vesicle associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1353643 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 619971 Plvap plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:7240710 20190315 OMIM 619971 Plvap plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type PMID:26207260|PMID:29661969|PMID:29875123 619972 Alcam activated leukocyte cell adhesion molecule gene DOID:0080600 COVID-19 ISO RGD:733283 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619972 Alcam activated leukocyte cell adhesion molecule gene DOID:305 carcinoma ISO RGD:733283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 619972 Alcam activated leukocyte cell adhesion molecule gene DOID:630 genetic disease ISO RGD:733283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619972 Alcam activated leukocyte cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 619972 Alcam activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 619972 Alcam activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 619973 Prss8 serine protease 8 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISS RGD:730926 D RGD:13592920 20180518 MouseDO OMIM:242500 619973 Prss8 serine protease 8 gene DOID:0080074 neural tube defect ISO RGD:730925 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24722141 619973 Prss8 serine protease 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:730925 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 619973 Prss8 serine protease 8 gene DOID:2394 ovarian cancer ISO RGD:730925 D RGD:2292486|PMID:11584061 20080421 RGD protein:increased expression:serum 619973 Prss8 serine protease 8 gene DOID:3459 breast carcinoma ISO RGD:730925 D RGD:2292485|PMID:11774283 20080421 RGD 619973 Prss8 serine protease 8 gene DOID:37 skin disease ISO RGD:730925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 619973 Prss8 serine protease 8 gene DOID:630 genetic disease ISO RGD:730925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619973 Prss8 serine protease 8 gene DOID:780 placenta disease ISO RGD:730925 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24722141 619973 Prss8 serine protease 8 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:730925 D RGD:2292484|PMID:12518323 20080421 RGD mRNA, protein:increased expression:prostate gland 619973 Prss8 serine protease 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730925 D RGD:2292484|PMID:12518323 20080421 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone 619973 Prss8 serine protease 8 gene DOID:9001984 Fetal Diseases ISO RGD:730925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 619973 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16541421 619973 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:2292484|PMID:12518323 20080421 RGD mRNA:increased expression:prostate gland 619973 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:730925 D RGD:2292487|PMID:11173941 20080421 RGD mRNA:increased expression:blood 619973 Prss8 serine protease 8 gene DOID:9007023 Prenatal Injuries ISO RGD:730925 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24722141 619973 Prss8 serine protease 8 gene DOID:987 alopecia IAGP D RGD:150520038|PMID:20201958 20211022 RGD DNA:deletion:cds:exon 3 (rat) 619974 Asl argininosuccinate lyase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731559 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:34008892 619974 Asl argininosuccinate lyase gene DOID:12803 Sly syndrome ISO RGD:731559 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Sly syndrome PMID:19224584|PMID:28492532 619974 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3106853 619974 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:1302509|PMID:12408190 19990101 RGD DNA:mutations:multiple (human) 619974 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:13628399|PMID:3440446 20180614 RGD protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte 619974 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:7240710 20130221 OMIM 619974 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:10896281|PMID:11698398|PMID:11747432|PMID:11747433|PMID:12384776|PMID:12408190|PMID:15164414|PMID:15273245|PMID:16199547|PMID:16435180|PMID:16941645|PMID:1705937|PMID:17326097|PMID:17551924|PMID:17576681|PMID:18042262|PMID:18616627|PMID:19224584|PMID:19703900|PMID:20236848|PMID:20298553|PMID:21290785|PMID:21667091|PMID:21710918|PMID:21744316|PMID:22081021|PMID:22231378|PMID:22541557|PMID:2263616|PMID:23430928|PMID:24033266|PMID:24136197|PMID:24166829|PMID:24516753|PMID:24927999|PMID:25087612|PMID:25433810|PMID:25525159|PMID:25741868|PMID:25778938|PMID:26661037|PMID:26745957|PMID:26843370|PMID:27515243|PMID:28251416|PMID:28492532|PMID:28600779|PMID:29326055|PMID:29493581|PMID:29773863|PMID:30285816|PMID:31030429|PMID:31056765|PMID:31130284|PMID:31156699|PMID:31183366|PMID:31426867|PMID:31515792|PMID:31589614|PMID:31709144|PMID:31943503|PMID:31980526|PMID:31990680|PMID:32778825|PMID:33373331|PMID:33514801|PMID:33611823|PMID:33851512|PMID:34405919|PMID:705937|PMID:9045711|PMID:9256435|PMID:9536098|PMID:9686346 619974 Asl argininosuccinate lyase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731559 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 619974 Asl argininosuccinate lyase gene DOID:630 genetic disease ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:30285816|PMID:31056765|PMID:31943503|PMID:34405919 619974 Asl argininosuccinate lyase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731559 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) 619974 Asl argininosuccinate lyase gene DOID:9002669 Hypoxia IEP D RGD:4110824|PMID:20567615 20070125 RGD protein:increased activity:brain (rat) 619974 Asl argininosuccinate lyase gene DOID:9004009 Reperfusion Injury resistance IEP D RGD:1599263|PMID:17198704 20070123 RGD protein:increased expression:brain, neuron (rat) 619974 Asl argininosuccinate lyase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12384776|PMID:16941645|PMID:1705937|PMID:21710918|PMID:24166829|PMID:25741868|PMID:28492532|PMID:31943503|PMID:9045711 619974 Asl argininosuccinate lyase gene DOID:9005930 Endotoxemia IEP D RGD:1599265|PMID:10652239 20070123 RGD 619974 Asl argininosuccinate lyase gene DOID:9007480 Hyperoxia IEP D RGD:4142785|PMID:20805789 20100908 RGD protein:increased expression:lung (rat) 619974 Asl argininosuccinate lyase gene DOID:9007874 Liver Failure IEP D RGD:70249|PMID:11779202 20100823 RGD mRNA:increased expression:liver (rat) 619974 Asl argininosuccinate lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:731559 D RGD:734610|PMID:2263616 19990101 RGD Argininosuccinic Aciduria; DNA:mutations:multiple (human) 619974 Asl argininosuccinate lyase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731559 D RGD:2314010|PMID:16121806 20091030 RGD mRNA:increased expression:leukocyte 619976 Hdac2 histone deacetylase 2 gene DOID:0050424 familial adenomatous polyposis treatment ISO RGD:1312510 D RGD:9590246|PMID:24218540 20141121 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1312509 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 619976 Hdac2 histone deacetylase 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1312509 D RGD:2306214|PMID:18212746 20090325 RGD protein:increased expression:prostate gland 619976 Hdac2 histone deacetylase 2 gene DOID:10534 stomach cancer ISO RGD:1312509 D RGD:9590325|PMID:23175521 20141125 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312509 D RGD:9590322|PMID:15865607 20141125 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1312510 D RGD:9590324|PMID:22388814 20141125 RGD protein:increased expression:hippocampus: 619976 Hdac2 histone deacetylase 2 gene DOID:11832 visual epilepsy IEP D RGD:9590259|PMID:21987499 20141121 RGD protein:increased expression:hippocampus & cortex: 619976 Hdac2 histone deacetylase 2 gene DOID:1561 cognitive disorder ISO RGD:1312510 D RGD:9590324|PMID:22388814 20141125 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:1574 alcohol use disorder IMP D RGD:9590265|PMID:23485013 20141121 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 619976 Hdac2 histone deacetylase 2 gene DOID:1909 melanoma ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 619976 Hdac2 histone deacetylase 2 gene DOID:2030 anxiety disorder IMP D RGD:9590265|PMID:23485013 20141121 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:2841 asthma ISO RGD:1312509 D RGD:9590321|PMID:20538962 20141125 RGD mRNA:decreased expression:macrophage: 619976 Hdac2 histone deacetylase 2 gene DOID:289 endometriosis ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 619976 Hdac2 histone deacetylase 2 gene DOID:289 endometriosis treatment IEP D RGD:9590244|PMID:20884991 20141121 RGD protein:decreased expression:ectopic endometrium, dorsal root ganglion: 619976 Hdac2 histone deacetylase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:1312510 D RGD:9590257|PMID:22933299 20141121 RGD associated with sepsis; 619976 Hdac2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:7204496|PMID:22732689 20141121 RGD protein:decreased expression:lung: 619976 Hdac2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:18421014 619976 Hdac2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:9590287|PMID:24940433 20141124 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1312509 D RGD:9590259|PMID:21987499 20141121 RGD protein:increased expression:timporal lobe: 619976 Hdac2 histone deacetylase 2 gene DOID:3525 middle cerebral artery infarction exacerbates ISO RGD:1312510 D RGD:155883173|PMID:32239566 20230206 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:5082 liver cirrhosis ISO RGD:1312509 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27396813 619976 Hdac2 histone deacetylase 2 gene DOID:6132 bronchitis treatment IEP D RGD:9590258|PMID:22708526 20141121 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:630 genetic disease ISO RGD:1312509 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11302704|PMID:19822520 619976 Hdac2 histone deacetylase 2 gene DOID:6432 pulmonary hypertension ISO RGD:1312509 D RGD:9590133|PMID:22711276 20141114 RGD protein:decreased expression:lung: 619976 Hdac2 histone deacetylase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312509 D RGD:9590206|PMID:24448241 20141119 RGD mRNA:increased expression:liver: 619976 Hdac2 histone deacetylase 2 gene DOID:8616 Peyronie's disease IMP D RGD:9590209|PMID:24841412 20141119 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:8692 myeloid leukemia ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 619976 Hdac2 histone deacetylase 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1312509 D RGD:2306200|PMID:19147762 20090325 RGD protein:increased expression:uterine cervix 619976 Hdac2 histone deacetylase 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 619976 Hdac2 histone deacetylase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:1312510 D RGD:9590210|PMID:23696608 20141119 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:9590311|PMID:24717296 20141124 RGD mRNA,protein:increased expression:kidney: 619976 Hdac2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312509 D RGD:9590311|PMID:24717296 20141124 RGD mRNA,protein:increased expression:kidney: 619976 Hdac2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312510 D RGD:9590311|PMID:24717296 20141124 RGD protein:increased expression:kidney: 619976 Hdac2 histone deacetylase 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9590296|PMID:24717552 20141124 RGD mRNA:increased expression:adrenal gland: 619976 Hdac2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312509 D RGD:2306215|PMID:17387270 20090325 RGD protein:increased expression:ovary 619976 Hdac2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1312509 D RGD:2306205|PMID:18714364 20090325 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9590193|PMID:23724067 20141119 RGD mRNA:increased expression:colon: 619976 Hdac2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9590331|PMID:16642021 20141125 RGD DNA:mutations:colon: 619976 Hdac2 histone deacetylase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1312509 D RGD:2306200|PMID:19147762 20090325 RGD protein:increased expression:uterine cervix 619976 Hdac2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 619976 Hdac2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:2306446|PMID:18849323 20141119 RGD protein:increased activity:heart: 619976 Hdac2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9590211|PMID:24526703 20141119 RGD protein:increased acetylation:heart: 619976 Hdac2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps ISO RGD:1312510 D RGD:9590323|PMID:19010907 20141125 RGD mRNA:increased expression:colon 619976 Hdac2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps treatment IMP D RGD:9590246|PMID:24218540 20141121 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9590229|PMID:19553350 20141120 RGD protein:increased activity:renal cortex: 619976 Hdac2 histone deacetylase 2 gene DOID:9007096 Stroke IEP D RGD:9590303|PMID:24657831 20141124 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:1312509 D RGD:156430320|PMID:31465536 20230224 RGD mRNA:decreased expression:lymphocyte 619976 Hdac2 histone deacetylase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1312509 D RGD:2306205|PMID:18714364 20090325 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:1312510 D RGD:9590324|PMID:22388814 20141125 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312510 D RGD:9590229|PMID:19553350 20141120 RGD protein:increased activity:kidney: 619976 Hdac2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema ISO RGD:1312510 D RGD:9590320|PMID:24040961 20141125 RGD mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: 619976 Hdac2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema treatment IEP D RGD:9590245|PMID:23326540 20141121 RGD 619976 Hdac2 histone deacetylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312509 D RGD:9590127|PMID:22772764 20141113 RGD protein:decreased expression:pancreatic beta cell: 619976 Hdac2 histone deacetylase 2 gene DOID:986 alopecia areata ISO RGD:1312509 D RGD:9587460|PMID:21936853 20141112 RGD mRNA:decreased expression:mononuclear cell: 619976 Hdac2 histone deacetylase 2 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1312509 D RGD:9681454|PMID:23948281 20141202 RGD mRNA:increased expression:bone marrow,blood: 619977 Hdac3 histone deacetylase 3 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:731326 D RGD:14696655|PMID:28697498 20190709 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619977 Hdac3 histone deacetylase 3 gene DOID:10286 prostate carcinoma ISO RGD:731326 D RGD:2306214|PMID:18212746 20090325 RGD protein:increased expression:prostate gland 619977 Hdac3 histone deacetylase 3 gene DOID:114 heart disease ISO RGD:731326 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 619977 Hdac3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:10402189|PMID:22965876 20151019 RGD mRNA:increased expression:cerebral cortex 619977 Hdac3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9590098|PMID:22918830 20141112 RGD protein:increased expression:striatum: 619977 Hdac3 histone deacetylase 3 gene DOID:1875 impotence IEP D RGD:9590194|PMID:24636283 20141119 RGD protein:increased expression:penis: 619977 Hdac3 histone deacetylase 3 gene DOID:1909 melanoma ISO RGD:731327 D RGD:9590165|PMID:24619412 20141117 RGD associated with Anaphylaxis; 619977 Hdac3 histone deacetylase 3 gene DOID:2394 ovarian cancer ISO RGD:731326 D RGD:2306215|PMID:17387270 20090325 RGD protein:increased expression:ovary 619977 Hdac3 histone deacetylase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731326 D RGD:2306205|PMID:18714364 20090325 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:289 endometriosis ISS RGD:731327 D RGD:13592920 20190321 MouseDO OMIM:131200 619977 Hdac3 histone deacetylase 3 gene DOID:299 adenocarcinoma ISO RGD:731326 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 619977 Hdac3 histone deacetylase 3 gene DOID:3021 acute kidney failure IEP D RGD:10047111|PMID:21416250 20151019 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:3070 high grade glioma ISO RGD:731326 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 619977 Hdac3 histone deacetylase 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:731326 D RGD:9590201|PMID:23685192 20141119 RGD mRNA,protein:increased expression:brain: 619977 Hdac3 histone deacetylase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731326 D RGD:9588265|PMID:24482232 20141119 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731326 D RGD:2306205|PMID:18714364 20090325 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:630 genetic disease ISO RGD:731326 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10490031|PMID:17956988|PMID:24268577 619977 Hdac3 histone deacetylase 3 gene DOID:6432 pulmonary hypertension ISO RGD:731326 D RGD:9590133|PMID:22711276 20141114 RGD protein:decreased expression:lung: 619977 Hdac3 histone deacetylase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731326 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 619977 Hdac3 histone deacetylase 3 gene DOID:9000784 Fibrosis IEP D RGD:9590194|PMID:24636283 20141119 RGD protein:increased expression:penis: 619977 Hdac3 histone deacetylase 3 gene DOID:9000918 Disease Progression ISO RGD:731326 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 619977 Hdac3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731326 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 619977 Hdac3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731327 D RGD:9590165|PMID:24619412 20141117 RGD associated with Anaphylaxis; 619977 Hdac3 histone deacetylase 3 gene DOID:9001981 Weight Loss ISO RGD:731326 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 619977 Hdac3 histone deacetylase 3 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9588620|PMID:23716065 20141103 RGD protein:decreased expression:brain: 619977 Hdac3 histone deacetylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731326 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619977 Hdac3 histone deacetylase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731326 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 619977 Hdac3 histone deacetylase 3 gene DOID:9006646 Metabolic Syndrome IEP D RGD:9590183|PMID:21763752 20141118 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 619977 Hdac3 histone deacetylase 3 gene DOID:9007278 Anaphylaxis ISO RGD:731327 D RGD:9590165|PMID:24619412 20141117 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:731327 D RGD:155883171|PMID:33982231 20230206 RGD 619977 Hdac3 histone deacetylase 3 gene DOID:9256 colorectal cancer ISO RGD:731326 D RGD:9590193|PMID:23724067 20141119 RGD mRNA:increased expression:colon: 619977 Hdac3 histone deacetylase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731326 D RGD:9590127|PMID:22772764 20141113 RGD protein:decreased expression:pancreatic beta cell: 619978 Csnk2b casein kinase 2 beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 619978 Csnk2b casein kinase 2 beta gene DOID:0050553 JMP syndrome ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 619978 Csnk2b casein kinase 2 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 619978 Csnk2b casein kinase 2 beta gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 619978 Csnk2b casein kinase 2 beta gene DOID:11372 megacolon ISO RGD:1347139 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 619978 Csnk2b casein kinase 2 beta gene DOID:127 leiomyoma ISO RGD:1347139 D RGD:11565842|PMID:25327614 20161129 RGD 619978 Csnk2b casein kinase 2 beta gene DOID:1749 squamous cell carcinoma ISO RGD:1347139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 619978 Csnk2b casein kinase 2 beta gene DOID:1826 epilepsy ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 619978 Csnk2b casein kinase 2 beta gene DOID:5844 myocardial infarction IEP D RGD:11565830|PMID:15090263 20161128 RGD 619978 Csnk2b casein kinase 2 beta gene DOID:630 genetic disease ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33166063|PMID:33644862|PMID:34041744 619978 Csnk2b casein kinase 2 beta gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:11565824|PMID:11068334 20161128 RGD 619978 Csnk2b casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:7240710 20200226 OMIM 619978 Csnk2b casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome PMID:11574463|PMID:25741868|PMID:28492532|PMID:28585349|PMID:28762608|PMID:30655572|PMID:31784560|PMID:33166063|PMID:33644862|PMID:34041744|PMID:35571680 619978 Csnk2b casein kinase 2 beta gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1624107 D RGD:11565123|PMID:16651637 20161121 RGD 619978 Csnk2b casein kinase 2 beta gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:25741868 619978 Csnk2b casein kinase 2 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347139 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 619978 Csnk2b casein kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1347139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 619979 Hdac4 histone deacetylase 4 gene DOID:0050581 brachydactyly ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20691407 619979 Hdac4 histone deacetylase 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316832 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 619979 Hdac4 histone deacetylase 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316832 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 619979 Hdac4 histone deacetylase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 619979 Hdac4 histone deacetylase 4 gene DOID:0110972 brachydactyly type E1 ISO RGD:1316832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brachydactyly syndrome type E PMID:25741868|PMID:33537682 619979 Hdac4 histone deacetylase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 619979 Hdac4 histone deacetylase 4 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1316832 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 619979 Hdac4 histone deacetylase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20691407 619979 Hdac4 histone deacetylase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1316832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:20691407|PMID:23188045|PMID:24715439|PMID:25741868|PMID:28492532|PMID:33537682 619979 Hdac4 histone deacetylase 4 gene DOID:1059 intellectual disability ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20691407 619979 Hdac4 histone deacetylase 4 gene DOID:1059 intellectual disability ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:33537682 619979 Hdac4 histone deacetylase 4 gene DOID:10907 microcephaly ISO RGD:1316832 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 619979 Hdac4 histone deacetylase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21507255 619979 Hdac4 histone deacetylase 4 gene DOID:11832 visual epilepsy ISO RGD:1550759 D RGD:9681457|PMID:19672313 20141202 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1550759 D RGD:9681458|PMID:22798624 20141202 RGD mRNA:increased expression:muscle: 619979 Hdac4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1316832 D RGD:9681455|PMID:22466704 20141202 RGD protein:altered localization:nucleus: 619979 Hdac4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1550759 D RGD:9681455|PMID:22466704 20141202 RGD protein:altered localization:nucleus: 619979 Hdac4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia treatment ISO RGD:1316832 D RGD:9681455|PMID:22466704 20141202 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 619979 Hdac4 histone deacetylase 4 gene DOID:1790 malignant mesothelioma ISO RGD:1316832 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 619979 Hdac4 histone deacetylase 4 gene DOID:1875 impotence ISO RGD:1316832 D RGD:9590194|PMID:24636283 20141119 RGD protein:increased expression:penis: 619979 Hdac4 histone deacetylase 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550759 D RGD:242905195|PMID:35854140 20230328 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:2773 contact dermatitis ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 619979 Hdac4 histone deacetylase 4 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1316832 D RGD:9681450|PMID:23824486 20141201 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:9681449|PMID:23480850 20141201 RGD mRNA,protein:decreased expression:brain: 619979 Hdac4 histone deacetylase 4 gene DOID:3627 aortic aneurysm ISO RGD:1316832 D RGD:9681448|PMID:19389706 20141201 RGD mRNA:decreased expression:aorta: 619979 Hdac4 histone deacetylase 4 gene DOID:630 genetic disease ISO RGD:1316832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33537682 619979 Hdac4 histone deacetylase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316832 D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:lung: 619979 Hdac4 histone deacetylase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316832 D RGD:9681451|PMID:21837748 20141201 RGD mRNA:increased expression:liver: 619979 Hdac4 histone deacetylase 4 gene DOID:8466 retinal degeneration treatment ISO RGD:1316832 D RGD:9681456|PMID:19131628 20141202 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1316832 D RGD:9681452|PMID:24216484 20141201 RGD DNA:missense mutation:cds: 619979 Hdac4 histone deacetylase 4 gene DOID:8670 eating disorder ISS RGD:1550759 D RGD:13592920 20200723 MouseDO 619979 Hdac4 histone deacetylase 4 gene DOID:9000784 Fibrosis IEP D RGD:9590194|PMID:24636283 20141119 RGD protein:increased expression:penis: 619979 Hdac4 histone deacetylase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 619979 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:9590311|PMID:24717296 20141124 RGD mRNA,protein:increased expression:kidney: 619979 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316832 D RGD:9590311|PMID:24717296 20141124 RGD mRNA,protein:increased expression:kidney: 619979 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550759 D RGD:9590311|PMID:24717296 20141124 RGD protein:increased expression:kidney: 619979 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies treatment IMP D RGD:9590311|PMID:24717296 20141124 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:9002661 Diabetes Complications ISO RGD:1316832 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35554780 619979 Hdac4 histone deacetylase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316832 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 619979 Hdac4 histone deacetylase 4 gene DOID:9004484 Sepsis IEP D RGD:9681446|PMID:23925573 20141126 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17988634 619979 Hdac4 histone deacetylase 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9590229|PMID:19553350 20141120 RGD protein:increased activity:renal cortex: 619979 Hdac4 histone deacetylase 4 gene DOID:9005754 Hypoalgesia ISO RGD:1550759 D RGD:9681457|PMID:19672313 20141202 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:9681448|PMID:19389706 20141201 RGD protein:increased expression:carotid artery: 619979 Hdac4 histone deacetylase 4 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1316832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24715439 619979 Hdac4 histone deacetylase 4 gene DOID:9007096 Stroke IEP D RGD:9590303|PMID:24657831 20141124 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:7240710 20220511 OMIM 619979 Hdac4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies PMID:25741868|PMID:33537682 619979 Hdac4 histone deacetylase 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1316832 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 619979 Hdac4 histone deacetylase 4 gene DOID:9538 multiple myeloma ISO RGD:1316832 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 619979 Hdac4 histone deacetylase 4 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1316832 D RGD:9681454|PMID:23948281 20141202 RGD 619979 Hdac4 histone deacetylase 4 gene DOID:9970 obesity ISO RGD:1316832 D RGD:9681453|PMID:24086512 20141202 RGD mRNA,protein:decreased expression:mononuclear cell, adipose tissue: 61998 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta gene DOID:11832 visual epilepsy IDA D RGD:2298728|PMID:12786973 20090318 RGD 61998 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta gene DOID:2234 focal epilepsy ISO RGD:737527 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 61998 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta gene DOID:2316 brain ischemia IEP D RGD:2306031|PMID:15902199 20090318 RGD protein:increased expression:cerebrospinal fluid 61998 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:737527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 61998 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta gene DOID:9074 systemic lupus erythematosus ISO RGD:737527 D RGD:1331525|PMID:15118671 19990101 GAD 619980 Hdac5 histone deacetylase 5 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604649 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 619980 Hdac5 histone deacetylase 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1604649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 619980 Hdac5 histone deacetylase 5 gene DOID:1596 depressive disorder IEP D RGD:9681459|PMID:24495952 20141202 RGD protein:increased expression:hippocampus: 619980 Hdac5 histone deacetylase 5 gene DOID:3021 acute kidney failure IEP D RGD:10047111|PMID:21416250 20151019 RGD 619980 Hdac5 histone deacetylase 5 gene DOID:3021 acute kidney failure treatment ISO RGD:1551616 D RGD:9590257|PMID:22933299 20141121 RGD associated with sepsis; 619980 Hdac5 histone deacetylase 5 gene DOID:3312 bipolar disorder ISO RGD:1604649 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 619980 Hdac5 histone deacetylase 5 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:9681449|PMID:23480850 20141201 RGD mRNA,protein:decreased expression:brain: 619980 Hdac5 histone deacetylase 5 gene DOID:418 systemic scleroderma ISO RGD:1604649 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 619980 Hdac5 histone deacetylase 5 gene DOID:507 adjustment disorder ISO RGD:1604649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17988634 619980 Hdac5 histone deacetylase 5 gene DOID:630 genetic disease ISO RGD:1604649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619980 Hdac5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension IEP D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:lung: 619980 Hdac5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604649 D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:lung: 619980 Hdac5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:9590311|PMID:24717296 20141124 RGD mRNA,protein:increased expression:kidney: 619980 Hdac5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551616 D RGD:9590311|PMID:24717296 20141124 RGD protein:increased expression:kidney: 619980 Hdac5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604649 D RGD:9590311|PMID:24717296 20141124 RGD mRNA,protein:increased expression:kidney: 619980 Hdac5 histone deacetylase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1604649 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17988634 619980 Hdac5 histone deacetylase 5 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:9590133|PMID:22711276 20141114 RGD protein:increased expression:Right Ventricular: 619980 Hdac5 histone deacetylase 5 gene DOID:9256 colorectal cancer ISO RGD:1604649 D RGD:9590193|PMID:23724067 20141119 RGD mRNA:increased expression:colon: 619981 Hdac6 histone deacetylase 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351463 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 619981 Hdac6 histone deacetylase 6 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351463 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:0080322 polycystic kidney disease treatment IMP D RGD:9681551|PMID:24434010 20141203 RGD 619981 Hdac6 histone deacetylase 6 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351463 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:7240710 20161130 OMIM 619981 Hdac6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type PMID:16001442|PMID:20181727|PMID:25741868|PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:10763 hypertension IEP D RGD:9681716|PMID:23868068 20141203 RGD protein:increased expression, activity:heart: 619981 Hdac6 histone deacetylase 6 gene DOID:12849 autistic disorder ISO RGD:1351463 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619981 Hdac6 histone deacetylase 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351463 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35764897 619981 Hdac6 histone deacetylase 6 gene DOID:1909 melanoma ISO RGD:1351463 D RGD:11554173 20161206 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 619981 Hdac6 histone deacetylase 6 gene DOID:3347 osteosarcoma ISO RGD:1351463 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 619981 Hdac6 histone deacetylase 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1351463 D RGD:9681560|PMID:23370327 20141203 RGD protein:increased expression:liver: 619981 Hdac6 histone deacetylase 6 gene DOID:630 genetic disease ISO RGD:1351463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619981 Hdac6 histone deacetylase 6 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1351463 D RGD:2306200|PMID:19147762 20090325 RGD protein:increased expression:uterine cervix 619981 Hdac6 histone deacetylase 6 gene DOID:9000918 Disease Progression ISO RGD:1351463 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 619981 Hdac6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 IEP D RGD:9681551|PMID:24434010 20141203 RGD mRNA,protein:increased expression:cholangiocytee,liver: 619981 Hdac6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351463 D RGD:9681551|PMID:24434010 20141203 RGD protein:increased expression:liver: 619981 Hdac6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 treatment IMP D RGD:9681551|PMID:24434010 20141203 RGD 619981 Hdac6 histone deacetylase 6 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351463 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 619981 Hdac6 histone deacetylase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351463 D RGD:11554173 20161206 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 619981 Hdac6 histone deacetylase 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552302 D RGD:9681550|PMID:23541634 20141203 RGD 619981 Hdac6 histone deacetylase 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1351463 D RGD:11554173 20161206 CTD CTD Direct Evidence: marker/mechanism PMID:19010849 619981 Hdac6 histone deacetylase 6 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1351463 D RGD:2306200|PMID:19147762 20090325 RGD protein:increased expression:uterine cervix 619981 Hdac6 histone deacetylase 6 gene DOID:9004484 Sepsis IEP D RGD:7364733|PMID:20538901 20141118 RGD 619982 Hdac7 histone deacetylase 7 gene DOID:12858 Huntington's disease ISO RGD:1552552 D RGD:9681718|PMID:21118817 20141204 RGD protein:decreased expression:brain: 619982 Hdac7 histone deacetylase 7 gene DOID:630 genetic disease ISO RGD:1349346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619982 Hdac7 histone deacetylase 7 gene DOID:9256 colorectal cancer ISO RGD:1349346 D RGD:9590193|PMID:23724067 20141119 RGD mRNA:increased expression:colon: 619982 Hdac7 histone deacetylase 7 gene DOID:986 alopecia areata ISO RGD:1349346 D RGD:9587460|PMID:21936853 20141112 RGD mRNA:decreased expression:mononuclear cell: 619983 C1s complement C1s gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 619983 C1s complement C1s gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605130 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 619983 C1s complement C1s gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605130 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 619983 C1s complement C1s gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605130 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 619983 C1s complement C1s gene DOID:0080939 hereditary angioedema type I ISO RGD:1605130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3184114 619983 C1s complement C1s gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1605130 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:27745832 619983 C1s complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:7240710 20190315 OMIM 619983 C1s complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:25741868|PMID:27745832|PMID:28492532 619983 C1s complement C1s gene DOID:0111621 Temtamy syndrome ISO RGD:1605130 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 619983 C1s complement C1s gene DOID:2048 autoimmune hepatitis ISO RGD:1605130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 619983 C1s complement C1s gene DOID:417 autoimmune disease ISO RGD:1605130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 619983 C1s complement C1s gene DOID:630 genetic disease ISO RGD:1605130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 619983 C1s complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:7240710 20141015 OMIM 619983 C1s complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:11390518|PMID:25741868|PMID:28492532 619983 C1s complement C1s gene DOID:9007355 Hashimoto Disease ISO RGD:1605130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 619983 C1s complement C1s gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605130 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 619984 Tesk2 testis associated actin remodelling kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 619984 Tesk2 testis associated actin remodelling kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734237 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 619984 Tesk2 testis associated actin remodelling kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 619984 Tesk2 testis associated actin remodelling kinase 2 gene DOID:630 genetic disease ISO RGD:734237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619985 Mat2a methionine adenosyltransferase 2A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 619985 Mat2a methionine adenosyltransferase 2A gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:737506 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT 619985 Mat2a methionine adenosyltransferase 2A gene DOID:1324 lung cancer treatment ISO RGD:737506 D RGD:153350142|PMID:34258296 20220912 RGD human cells in mouse model 619985 Mat2a methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 619985 Mat2a methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28492532|PMID:9536098 619985 Mat2a methionine adenosyltransferase 2A gene DOID:3393 coronary artery disease ISO RGD:737506 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 619985 Mat2a methionine adenosyltransferase 2A gene DOID:630 genetic disease ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:0050117 disease by infectious agent ISO RGD:1348996 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:7240710 20201202 OMIM 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 46 PMID:24033266|PMID:25741868|PMID:28492532|PMID:32619401|PMID:32681648 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:10283 prostate cancer ISO RGD:1348996 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:303 substance-related disorder ISO RGD:1348996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:630 genetic disease ISO RGD:1348996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:9004890 Paranoid Disorders ISO RGD:1348996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 619986 Dnah8 dynein, axonemal, heavy chain 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24307375|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32037394|PMID:32619401|PMID:32681648|PMID:9536098 619988 Dnah10 dynein, axonemal, heavy chain 10 gene DOID:0060224 atrial fibrillation ISO RGD:733008 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 619988 Dnah10 dynein, axonemal, heavy chain 10 gene DOID:0111910 spermatogenic failure ISS RGD:733009 D RGD:13592920 20211028 MouseDO 619988 Dnah10 dynein, axonemal, heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:7240710 20210908 OMIM 619988 Dnah10 dynein, axonemal, heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 56 PMID:25741868|PMID:34237282 619988 Dnah10 dynein, axonemal, heavy chain 10 gene DOID:12336 male infertility ISO RGD:733008 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility 619988 Dnah10 dynein, axonemal, heavy chain 10 gene DOID:630 genetic disease ISO RGD:733008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:731346 D RGD:39938865|PMID:20385761 20201014 RGD mRNA:increased expression:lung (mouse) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:731346 D RGD:11529541|PMID:26914138 20201014 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza ISO RGD:731346 D RGD:39939082|PMID:24799604 20201028 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza disease_progression ISO RGD:731346 D RGD:39939079|PMID:23785507 20201027 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346818 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:10591 pre-eclampsia ISS RGD:731346 D RGD:13592920 20180518 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia ISO RGD:731346 D RGD:39938856|PMID:31249813 20201014 RGD mRNA:increased expression:lung (mouse) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia treatment ISO RGD:1346818 D RGD:38455984|PMID:30832593 20200807 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:12205 dengue disease treatment ISO RGD:1346818 D RGD:39939074|PMID:31821895 20201027 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:12385 shigellosis treatment ISO RGD:731346 D RGD:39938959|PMID:30615126 20201022 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:731346 D RGD:39939072|PMID:27992577 20201026 RGD mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1346818 D RGD:39939075|PMID:21765346 20201027 RGD protein:increased activity, increased expression:plasma, heart (human) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:2122 pneumonic tularemia ISO RGD:731346 D RGD:39938865|PMID:20385761 20201014 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:2272 vulvovaginal candidiasis ISO RGD:731346 D RGD:39938863|PMID:23853597 20201014 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:289 endometriosis ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1346818 D RGD:39939073|PMID:32369456 20201027 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1346818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346818 D RGD:39939073|PMID:32369456 20201027 RGD associated with pulmonary tuberculosis;protein:increased expression:blood (human) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:646 viral encephalitis ISO RGD:731346 D RGD:39939045|PMID:30770561 20201023 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:731346 D RGD:39939118|PMID:24844751 20201028 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9000469 Viral Myocarditis ISO RGD:731346 D RGD:39939047|PMID:31416389 20201023 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731346 D RGD:39939037|PMID:28465467 20201022 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:731346 D RGD:39939037|PMID:28465467 20201022 RGD protein:increased expression:serum (mouse) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:731346 D RGD:11529541|PMID:26914138 20201014 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731346 D RGD:39939118|PMID:24844751 20201028 RGD associated with Pneumococcal Meningitis 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346818 D RGD:39939081|PMID:25605587 20201027 RGD mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004484 Sepsis treatment ISO RGD:731346 D RGD:39938864|PMID:25114116 20201014 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:731346 D RGD:39939031|PMID:25278421 20201021 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004657 Weight Gain ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005099 Salmonella Infections, Animal susceptibility ISO RGD:731346 D RGD:39939032|PMID:24930766 20201021 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:731346 D RGD:39939039|PMID:31231617 20201023 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005372 Inflammation ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005930 Endotoxemia ISO RGD:731346 D RGD:39939032|PMID:24930766 20201021 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005930 Endotoxemia ISO RGD:731346 D RGD:39939117|PMID:28077574 20201028 RGD 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346818 D RGD:39939037|PMID:28465467 20201022 RGD protein:increased expression:serum (human) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9123 eczema herpeticum severity ISO RGD:1346818 D RGD:11528429|PMID:26198597 20201020 RGD associated with atopic dermatitis; protein:increased activity:serum (human) 619989 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9970 obesity ISO RGD:1346818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 61999 Sfmbt1 Scm-like with four mbt domains 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 619990 Dnah12 dynein, axonemal, heavy chain 12 gene DOID:11372 megacolon ISO RGD:1603257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 619990 Dnah12 dynein, axonemal, heavy chain 12 gene DOID:630 genetic disease ISO RGD:1603257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619990 Dnah12 dynein, axonemal, heavy chain 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1603257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 619991 Vegfa vascular endothelial growth factor A gene DOID:0001816 angiosarcoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 619991 Vegfa vascular endothelial growth factor A gene DOID:0002116 pterygium ISO RGD:731072 D RGD:8549762|PMID:15885787 20140404 RGD protein:increased expression:conjunctiva: 619991 Vegfa vascular endothelial growth factor A gene DOID:0050185 erythema multiforme ISO RGD:731072 D RGD:7421578|PMID:7738351 20131121 RGD mRNA:increased expression: : 619991 Vegfa vascular endothelial growth factor A gene DOID:0050444 infantile Refsum disease ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 619991 Vegfa vascular endothelial growth factor A gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:731072 D RGD:11079180|PMID:23642997 20160512 RGD protein:increased expression:serum,colon: 619991 Vegfa vascular endothelial growth factor A gene DOID:0050700 cardiomyopathy ISO RGD:731073 D RGD:1580578|PMID:10229225 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:0050852 limb ischemia treatment IDA D RGD:7421600|PMID:23562340 20131125 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 619991 Vegfa vascular endothelial growth factor A gene DOID:0060071 pre-malignant neoplasm ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12399228 619991 Vegfa vascular endothelial growth factor A gene DOID:0060074 ductal carcinoma in situ ISO RGD:731072 D RGD:2315458|PMID:19623180 20091222 RGD protein:increased expression:breast 619991 Vegfa vascular endothelial growth factor A gene DOID:0060108 brain glioma ISO RGD:731072 D RGD:151660356|PMID:33900414 20220307 RGD protein:increased expression:brain (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:0060181 ischemic colitis ISO RGD:731072 D RGD:1580570|PMID:15770733 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISS RGD:731073 D RGD:13592920 20180518 MouseDO OMIM:105400 619991 Vegfa vascular endothelial growth factor A gene DOID:0060224 atrial fibrillation ISO RGD:731072 D RGD:8551825|PMID:20631454 20140414 RGD mRNA,protein:increased expression:heart: 619991 Vegfa vascular endothelial growth factor A gene DOID:0060496 respiratory allergy ISO RGD:731072 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 619991 Vegfa vascular endothelial growth factor A gene DOID:0060643 primary sclerosing cholangitis ISO RGD:731072 D RGD:11538286|PMID:26615570 20191112 RGD protein:increased expression:plasma: 619991 Vegfa vascular endothelial growth factor A gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731072 D RGD:1580567|PMID:16388189 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:0080600 COVID-19 severity ISO RGD:731072 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:0081267 graft-versus-host disease ISO RGD:731072 D RGD:11079181|PMID:25759146 20160512 RGD protein:decreased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:0111252 neurofibromatosis 2 ISO RGD:731072 D RGD:8547957|PMID:19587327 20140303 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:0111252 neurofibromatosis 2 ISO RGD:731073 D RGD:8547955|PMID:20406973 20140303 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:0111253 neurofibromatosis 1 ISO RGD:731072 D RGD:8547970|PMID:12930297 20140304 RGD mRNA,protein:increased expression:dermis 619991 Vegfa vascular endothelial growth factor A gene DOID:10283 prostate cancer ISO RGD:731072 D RGD:2315459|PMID:19576799 20091222 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:10584 retinitis pigmentosa ISO RGD:731072 D RGD:7483592|PMID:18326689 20131203 RGD protein:increased expression:eye: 619991 Vegfa vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:155631283|PMID:22840297 20221031 RGD mRNA:decreased expression:chorionic villus (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:1580566|PMID:16517614 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15732116 619991 Vegfa vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:1580571|PMID:15732116 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:8547975|PMID:22104377 20140304 RGD mRNA:increased expression:middle ear: 619991 Vegfa vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:8547980|PMID:21271590 20140304 RGD mRNA,protein:increased expression:middle ear,inner ear: 619991 Vegfa vascular endothelial growth factor A gene DOID:10762 portal hypertension IEP D RGD:11528851|PMID:26627607 20191107 RGD protein:increased expression:mesentary 619991 Vegfa vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18416461 619991 Vegfa vascular endothelial growth factor A gene DOID:10763 hypertension ISO RGD:731072 D RGD:1580573|PMID:16164572 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:10763 hypertension treatment ISO RGD:731072 D RGD:8552374|PMID:20630084 20140422 RGD associated with Prostatic Neoplasms 619991 Vegfa vascular endothelial growth factor A gene DOID:10808 gastric ulcer ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11353854 619991 Vegfa vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:7483607|PMID:23745581 20131203 RGD DNA:SNP: :rs943080(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:7483627|PMID:23149126 20131203 RGD DNA:SNP: :rs3025000(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:1094 attention deficit hyperactivity disorder IEP D RGD:1580558|PMID:15178644 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:10941 intracranial aneurysm ISO RGD:731072 D RGD:155882593|PMID:32602008 20230201 RGD mRNA,protein:increased expression:artery 619991 Vegfa vascular endothelial growth factor A gene DOID:10964 cholesteatoma of middle ear ISO RGD:731072 D RGD:8547968|PMID:11078065 20140304 RGD protein:altered expression:mucosa of the middle ear: 619991 Vegfa vascular endothelial growth factor A gene DOID:11054 urinary bladder cancer ISO RGD:731072 D RGD:13605607|PMID:22895562 20180607 RGD mRNA:increased expression:bladder 619991 Vegfa vascular endothelial growth factor A gene DOID:11198 DiGeorge syndrome ISS RGD:731073 D RGD:13592920 20180518 MouseDO OMIM:188400 619991 Vegfa vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 619991 Vegfa vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:7483619|PMID:22467572 20131203 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:8547993|PMID:21325621 20140305 RGD associated with Herpes Simplex;protein:increased expression:cornea: 619991 Vegfa vascular endothelial growth factor A gene DOID:11396 pulmonary edema IDA D RGD:1580547|PMID:16793871 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:114 heart disease ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 619991 Vegfa vascular endothelial growth factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:731072 D RGD:8549491|PMID:15653207 20140327 RGD protein:increased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy IEP D RGD:4891384|PMID:19241604 20140304 RGD protein:increased expression:cochlea: 619991 Vegfa vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:7240710 20190410 OMIM 619991 Vegfa vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 619991 Vegfa vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis IEP D RGD:11528851|PMID:26627607 20191107 RGD protein:increased expression:liver 619991 Vegfa vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:731072 D RGD:11538286|PMID:26615570 20191112 RGD protein:increased expression:plasma: 619991 Vegfa vascular endothelial growth factor A gene DOID:12361 Graves' disease ISO RGD:731072 D RGD:7483621|PMID:22771446 20131203 RGD DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:12510 retinal ischemia treatment IEP D RGD:10755711|PMID:23537149 20170724 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:12689 acoustic neuroma ISO RGD:731072 D RGD:8547959|PMID:14660915 20140303 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:12716 newborn respiratory distress syndrome ISS RGD:731073 D RGD:13592920 20180518 MouseDO OMIM:267450 619991 Vegfa vascular endothelial growth factor A gene DOID:13025 retinopathy of prematurity ISO RGD:731072 D RGD:8548546|PMID:10751359 20140311 RGD protein:increased expression:subretinal fluid: 619991 Vegfa vascular endothelial growth factor A gene DOID:13207 proliferative diabetic retinopathy IDA D RGD:2312348|PMID:16054135 20180125 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:retina 619991 Vegfa vascular endothelial growth factor A gene DOID:13241 Behcet's disease ISO RGD:731072 D RGD:8655578|PMID:15257411 20140516 RGD protein:increased expression:serum 619991 Vegfa vascular endothelial growth factor A gene DOID:13378 Kawasaki disease ISO RGD:731072 D RGD:1580572|PMID:15470196 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:13812 adhesions of uterus IEP D RGD:126925216|PMID:31596310 20210514 RGD mRNA, protein:increased expression:endometrium 619991 Vegfa vascular endothelial growth factor A gene DOID:14256 adult-onset Still's disease ISO RGD:731072 D RGD:8548659|PMID:24387171 20140318 RGD protein:increased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:1432 blindness ISO RGD:731073 D RGD:11075234|PMID:23093773 20160510 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:14566 disease of cellular proliferation ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18494554 619991 Vegfa vascular endothelial growth factor A gene DOID:1520 colon carcinoma treatment ISO RGD:731072 D RGD:15003195|PMID:18657413 20191107 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:11075233|PMID:25130874 20160510 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:11075235|PMID:22925497 20160510 RGD associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 619991 Vegfa vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:1580565|PMID:16636650 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:1686 glaucoma IEP D RGD:7421595|PMID:18728749 20131122 RGD protein:increased expression:retina: 619991 Vegfa vascular endothelial growth factor A gene DOID:1686 glaucoma IMP D RGD:7421614|PMID:23416159 20131125 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:1687 neovascular glaucoma ISO RGD:731072 D RGD:8547996|PMID:9852717 20140305 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: 619991 Vegfa vascular endothelial growth factor A gene DOID:1724 duodenal ulcer IEP D RGD:7483560|PMID:18622701 20131202 RGD associated with Candidiasis;protein:decreased expression:Duodenum: 619991 Vegfa vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 619991 Vegfa vascular endothelial growth factor A gene DOID:1749 squamous cell carcinoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15956251|PMID:26432044 619991 Vegfa vascular endothelial growth factor A gene DOID:1824 status epilepticus ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 619991 Vegfa vascular endothelial growth factor A gene DOID:1875 impotence ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 619991 Vegfa vascular endothelial growth factor A gene DOID:1909 melanoma disease_progression ISO RGD:731072 D RGD:7421569|PMID:12946796 20131121 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:1936 atherosclerosis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15937083 619991 Vegfa vascular endothelial growth factor A gene DOID:1936 atherosclerosis ISO RGD:731072 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 619991 Vegfa vascular endothelial growth factor A gene DOID:1936 atherosclerosis ameliorates ISO RGD:731073 D RGD:242905202|PMID:31757932 20230328 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:2048 autoimmune hepatitis ISO RGD:731072 D RGD:11538286|PMID:26615570 20191112 RGD protein:increased expression:plasma: 619991 Vegfa vascular endothelial growth factor A gene DOID:219 colon cancer IEP D RGD:5135051|PMID:21268133 20120322 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:2256 osteochondrodysplasia ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24235232 619991 Vegfa vascular endothelial growth factor A gene DOID:2596 larynx cancer treatment ISO RGD:731072 D RGD:126925200|PMID:20967863 20210514 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:731072 D RGD:7483615|PMID:19483196 20131203 RGD DNA:haplotype: : 619991 Vegfa vascular endothelial growth factor A gene DOID:2773 contact dermatitis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 619991 Vegfa vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11907124|PMID:15201500|PMID:19263519 619991 Vegfa vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:6892723|PMID:19178538 20120814 RGD protein:increased expression:sputum 619991 Vegfa vascular endothelial growth factor A gene DOID:289 endometriosis IEP D RGD:5135061|PMID:20056215 20120322 RGD mRNA:increased expression:endometrium 619991 Vegfa vascular endothelial growth factor A gene DOID:2921 glomerulonephritis treatment ISO RGD:731072 D RGD:7421594|PMID:15195119 20131122 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:299 adenocarcinoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 619991 Vegfa vascular endothelial growth factor A gene DOID:2999 granulosa cell tumor ISO RGD:731072 D RGD:2315463|PMID:19524286 20091223 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:3021 acute kidney failure ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943766|PMID:22808199 619991 Vegfa vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis IEP D RGD:7421586|PMID:7876550 20131121 RGD mRNA:protein:skin: 619991 Vegfa vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:731072 D RGD:7421586|PMID:7876550 20131121 RGD mRNA:protein:skin: 619991 Vegfa vascular endothelial growth factor A gene DOID:3068 glioblastoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 619991 Vegfa vascular endothelial growth factor A gene DOID:3071 gliosarcoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16533777 619991 Vegfa vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731072 D RGD:5684420|PMID:15681497 20111219 RGD protein:increased expression:lung 619991 Vegfa vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:10755705|PMID:20705587 20160203 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:3087 gingivitis ISO RGD:731072 D RGD:7421591|PMID:18206400 20131121 RGD associated with Scleroderma, Systemic;protein:decreased expression:gingiva: 619991 Vegfa vascular endothelial growth factor A gene DOID:3179 inverted papilloma ISO RGD:731072 D RGD:8551779|PMID:12541477 20140411 RGD protein:increased expression:inferior nasal concha: 619991 Vegfa vascular endothelial growth factor A gene DOID:3247 rhabdomyosarcoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16116481 619991 Vegfa vascular endothelial growth factor A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731072 D RGD:1580568|PMID:16410746 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:3328 temporal lobe epilepsy ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 619991 Vegfa vascular endothelial growth factor A gene DOID:3347 osteosarcoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 619991 Vegfa vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14668888|PMID:15937083 619991 Vegfa vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:1580569|PMID:15754021 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:3512 neurofibrosarcoma ISO RGD:731072 D RGD:8552377|PMID:10554031 20140422 RGD protein:increased expression:peripheral nerve 619991 Vegfa vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction IEP D RGD:329337377|PMID:27035554 20230429 RGD mRNA,protein:increased expression:cerebral cortex (rat) 619991 Vegfa vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:40925919|PMID:29497380 20210121 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 619991 Vegfa vascular endothelial growth factor A gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:7421593|PMID:15879288 20131122 RGD protein:decreased expression:lung: 619991 Vegfa vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 619991 Vegfa vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:126925199|PMID:21481963 20210514 RGD protein:increased expression:plasma 619991 Vegfa vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731072 D RGD:152023747|PMID:22977534 20220427 RGD protein:inctreased expression:lung (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:5684416|PMID:16426919 20111219 RGD protein:increased expression:skin 619991 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:7421579|PMID:21636803 20131121 RGD mRNA,protein:increased expression:skin: 619991 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:8548659|PMID:24387171 20140318 RGD protein:increased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:8551843|PMID:22271757 20140415 RGD protein:increased expression:bone marrow: 619991 Vegfa vascular endothelial growth factor A gene DOID:4440 seminoma disease_progression ISO RGD:731072 D RGD:2315467|PMID:19288744 20091223 RGD protein:increased expression:testis 619991 Vegfa vascular endothelial growth factor A gene DOID:4448 macular degeneration ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15788408 619991 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20577866 619991 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:155582223|PMID:35799735 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:8549772|PMID:23411880 20140404 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor 619991 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:8655594|PMID:17505145 20140516 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor 619991 Vegfa vascular endothelial growth factor A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731072 D RGD:2315455|PMID:19755989 20091222 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 619991 Vegfa vascular endothelial growth factor A gene DOID:4483 rhinitis ISO RGD:731072 D RGD:6892723|PMID:19178538 20120814 RGD protein:increased expression:sputum 619991 Vegfa vascular endothelial growth factor A gene DOID:4724 brain edema IDA D RGD:1580557|PMID:15879344 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:4724 brain edema IEP D RGD:5148033|PMID:21560328 20120322 RGD associated with Anoxia 619991 Vegfa vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:11528851|PMID:26627607 20191107 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver 619991 Vegfa vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 619991 Vegfa vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:15003200|PMID:18544126 20191108 RGD protein:increased expression:platelet: 619991 Vegfa vascular endothelial growth factor A gene DOID:5176 renal Wilms' tumor ISO RGD:731072 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 619991 Vegfa vascular endothelial growth factor A gene DOID:5425 ovarian hyperstimulation syndrome treatment IMP D RGD:126925217|PMID:25151950 20210514 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:5679 retinal disease ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 619991 Vegfa vascular endothelial growth factor A gene DOID:576 proteinuria ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 619991 Vegfa vascular endothelial growth factor A gene DOID:5844 myocardial infarction ISO RGD:731072 D RGD:7483604|PMID:10652191 20131203 RGD protein:increased expression:serum,platelet: 619991 Vegfa vascular endothelial growth factor A gene DOID:5844 myocardial infarction treatment IDA D RGD:126925214|PMID:25936512 20210514 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:6000 congestive heart failure ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15732037|PMID:15880336 619991 Vegfa vascular endothelial growth factor A gene DOID:6039 uveal melanoma ISO RGD:731072 D RGD:7483591|PMID:11914216 20131203 RGD protein:increased expression:iris, ciliary body, vitreous body; 619991 Vegfa vascular endothelial growth factor A gene DOID:630 genetic disease ISO RGD:731072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:15003194|PMID:27338800 20191107 RGD protein:increased expression:liver 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:15003196|PMID:28147320 20191107 RGD protein:increased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:15003200|PMID:18544126 20191108 RGD associated with liver cirrhosis; protein:increased expression:platelet, liver: 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731072 D RGD:15014783|PMID:16835748 20191108 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731072 D RGD:126848814|PMID:24445728 20210504 RGD DNA:SNP: :2578C>A (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:11527070|PMID:26930285 20191108 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:15003196|PMID:28147320 20191107 RGD DNA:polymorphism:promoter:-2578C>A (rs699947)(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731073 D RGD:15036790|PMID:18392108 20191114 RGD associated with liver cirrhosis; 619991 Vegfa vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 619991 Vegfa vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:731072 D RGD:8548659|PMID:24387171 20140318 RGD protein:increased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:7736 retinal telangiectasia severity ISO RGD:731072 D RGD:8549759|PMID:23221067 20140404 RGD protein:increased expression:eye: 619991 Vegfa vascular endothelial growth factor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:731072 D RGD:5684419|PMID:15764076 20111219 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:850 lung disease ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23618901 619991 Vegfa vascular endothelial growth factor A gene DOID:8505 dermatitis herpetiformis ISO RGD:731072 D RGD:7421578|PMID:7738351 20131121 RGD mRNA:increased expression: : 619991 Vegfa vascular endothelial growth factor A gene DOID:8506 bullous pemphigoid ISO RGD:731072 D RGD:7421578|PMID:7738351 20131121 RGD mRNA:increased expression: : 619991 Vegfa vascular endothelial growth factor A gene DOID:8544 chronic fatigue syndrome ISO RGD:731072 D RGD:11538286|PMID:26615570 20191112 RGD protein:decreased expression:plasma: 619991 Vegfa vascular endothelial growth factor A gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:731072 D RGD:13432135|PMID:19141860 20170920 RGD DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:8577 ulcerative colitis ISO RGD:731072 D RGD:5684406|PMID:19013462 20111219 RGD protein:increased expression:plasma, large intestine mucosa 619991 Vegfa vascular endothelial growth factor A gene DOID:869 cholesteatoma ISO RGD:731072 D RGD:8547969|PMID:15267172 20140304 RGD protein:increased expression:external acoustic meatus: 619991 Vegfa vascular endothelial growth factor A gene DOID:8692 myeloid leukemia ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 619991 Vegfa vascular endothelial growth factor A gene DOID:8717 decubitus ulcer IEP D RGD:8655548|PMID:23740668 20140514 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:731072 D RGD:8551845|PMID:12692851 20140415 RGD protein:increased expression:skin: 619991 Vegfa vascular endothelial growth factor A gene DOID:8778 Crohn's disease ISO RGD:731072 D RGD:5684406|PMID:19013462 20111219 RGD protein:increased expression:plasma, large intestine mucosa 619991 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16385345 619991 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:7421592|PMID:8064230 20131121 RGD mRNA:increased expression:skin: 619991 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis disease_progression ISO RGD:731072 D RGD:8552359|PMID:20980160 20140422 RGD protein:increased expression:serum: 619991 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis onset ISO RGD:731072 D RGD:8552645|PMID:14962110 20140423 RGD DNA:polymorphism: :405C>G(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis treatment ISO RGD:731073 D RGD:8549646|PMID:19995970 20140401 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:8927 learning disability ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20801723 619991 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy IEP D RGD:41410819|PMID:31759996 20210216 RGD mRNA, protein:increased expression:retina 619991 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11978667|PMID:15788408|PMID:20577866 619991 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:1580565|PMID:16636650 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:2301992|PMID:17513698 20081113 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:8547996|PMID:9852717 20140305 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: 619991 Vegfa vascular endothelial growth factor A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731072 D RGD:2315456|PMID:19723043 20091222 RGD protein:increased expression:uterine cervix 619991 Vegfa vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome IEP D RGD:15003201|PMID:27029414 20191108 RGD mRNA:increased expression:lung: 619991 Vegfa vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome treatment IEP D RGD:15036789|PMID:19109954 20191114 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5148013|PMID:21092735 20120322 RGD protein:increased expression:spinal cord 619991 Vegfa vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 619991 Vegfa vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731072 D RGD:2315454|PMID:19783962 20091222 RGD associated with Cervix Neoplasms 619991 Vegfa vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731073 D RGD:7421574|PMID:17597103 20131121 RGD associated with Breast neoplasms; 619991 Vegfa vascular endothelial growth factor A gene DOID:9000099 Experimental Colitis ISO RGD:731073 D RGD:5684406|PMID:19013462 20111219 RGD protein:increased expression:colon 619991 Vegfa vascular endothelial growth factor A gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 619991 Vegfa vascular endothelial growth factor A gene DOID:9000528 Coronary Disease ISO RGD:731072 D RGD:2313728|PMID:16139132 20091012 RGD mRNA, protein:increased expression:ventricle myocardium 619991 Vegfa vascular endothelial growth factor A gene DOID:9000808 Hypercholesterolemia ISO RGD:731072 D RGD:8655598|PMID:15491965 20140516 RGD associated with Carcinoma, Ductal, Breast 619991 Vegfa vascular endothelial growth factor A gene DOID:9000888 Pregnancy in Diabetics IEP D RGD:7483562|PMID:19048427 20131202 RGD protein:decreased expression:plasma, placenta,embryo: 619991 Vegfa vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:18930813|PMID:20158913 619991 Vegfa vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:2315468|PMID:19064974 20091223 RGD associated with Carcinoma, Renal Cell 619991 Vegfa vascular endothelial growth factor A gene DOID:9000998 Brain Injuries IEP D RGD:1580574|PMID:12230324 20091111 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18065154 619991 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization IEP D RGD:8548599|PMID:19013152 20140312 RGD mRNA,protein:increased expression:choroidal tissue,retina: 619991 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 619991 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731073 D RGD:8548459|PMID:16723717 20140305 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731072 D RGD:7483614|PMID:20237252 20131203 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:731072 D RGD:15014784|PMID:24959006 20191108 RGD protein:increased expression:plasma 619991 Vegfa vascular endothelial growth factor A gene DOID:9001472 Nasal Polyps ISO RGD:731072 D RGD:7394830|PMID:12761968 20131203 RGD protein:increased expression:Turbinates: 619991 Vegfa vascular endothelial growth factor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18416461|PMID:18458672 619991 Vegfa vascular endothelial growth factor A gene DOID:9001600 Wounds and Injuries treatment ISO RGD:731072 D RGD:8655580|PMID:23603001 20140516 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9001725 Retina Reperfusion Injury IDA D RGD:7421609|PMID:17591953 20131125 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:15036791|PMID:26451003 20191114 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 619991 Vegfa vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:2313731|PMID:15610240 20091013 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine 619991 Vegfa vascular endothelial growth factor A gene DOID:9002170 Experimental Neoplasms ISO RGD:731072 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20376344|PMID:20932960|PMID:28574600 619991 Vegfa vascular endothelial growth factor A gene DOID:9002221 Hyperplasia ISO RGD:731072 D RGD:2315458|PMID:19623180 20091222 RGD associated with Breast Diseases;protein:increased expression:breast 619991 Vegfa vascular endothelial growth factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12893367|PMID:16606632|PMID:16908180|PMID:20052738 619991 Vegfa vascular endothelial growth factor A gene DOID:9002457 Experimental Arthritis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9598899|PMID:26221077 619991 Vegfa vascular endothelial growth factor A gene DOID:9002539 Glomus Tympanicum Tumor ISO RGD:731072 D RGD:8547978|PMID:20030694 20140304 RGD mRNA:increased expression: : 619991 Vegfa vascular endothelial growth factor A gene DOID:9002661 Diabetes Complications ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 619991 Vegfa vascular endothelial growth factor A gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 619991 Vegfa vascular endothelial growth factor A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731072 D RGD:2315464|PMID:19509553 20091223 RGD DNA:polymorphisms: :405G>C, -460C>T (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:634258|PMID:12387457 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:7421596|PMID:17083617 20131122 RGD mRNA,protein:decreased expression:spinal cord: 619991 Vegfa vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731072 D RGD:7421596|PMID:17083617 20131122 RGD mRNA:decreased expression:Cerebrospinal Fluid: 619991 Vegfa vascular endothelial growth factor A gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:7483624|PMID:15303088 20131203 RGD mRNA:increased expression:retina: 619991 Vegfa vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 619991 Vegfa vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731073 D RGD:5684533|PMID:21098094 20111221 RGD associated with Colitis 619991 Vegfa vascular endothelial growth factor A gene DOID:9002955 Nerve Degeneration treatment ISO RGD:731072 D RGD:11079183|PMID:26201024 20160513 RGD associated with Diabetes Mellitus, Experimental; 619991 Vegfa vascular endothelial growth factor A gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12399228|PMID:17533168 619991 Vegfa vascular endothelial growth factor A gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:731072 D RGD:8655596|PMID:23303813 20140516 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 619991 Vegfa vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:2315456|PMID:19723043 20091222 RGD protein:increased expression:uterine cervix 619991 Vegfa vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731072 D RGD:2315454|PMID:19783962 20091222 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 619991 Vegfa vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation IEP D RGD:8547981|PMID:24012216 20140304 RGD mRNA:increased expression:tympanic membrane: 619991 Vegfa vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation disease_progression IEP D RGD:8655595|PMID:20015768 20140516 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9004464 Skin Neoplasms ISO RGD:731073 D RGD:7421589|PMID:15150105 20131121 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9004610 Acute Lung Injury IEP D RGD:5684427|PMID:21528367 20111220 RGD associated with Endotoxemia;mRNA, protein:altered expression:lung, plasma 619991 Vegfa vascular endothelial growth factor A gene DOID:9004643 Urologic Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23009795 619991 Vegfa vascular endothelial growth factor A gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 619991 Vegfa vascular endothelial growth factor A gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731072 D RGD:6771361|PMID:21890879 20140410 RGD human protein in a mouse model 619991 Vegfa vascular endothelial growth factor A gene DOID:9005372 Inflammation ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 619991 Vegfa vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula IEP D RGD:8551823|PMID:24626343 20140414 RGD protein:increased expression:brain cortex, brain dura mater: 619991 Vegfa vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:731072 D RGD:8655590|PMID:10541235 20140516 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:7421582|PMID:19934008 20131121 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313724|PMID:16741021 20091012 RGD mRNA:decreased expression:heart 619991 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 619991 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731073 D RGD:2313725|PMID:16816123 20091012 RGD mRNA:decreased expression:skeletal muscle 619991 Vegfa vascular endothelial growth factor A gene DOID:9005858 Periodontal Atrophy IEP D RGD:7421608|PMID:22716278 20131125 RGD protein:decreased expression:maxilla: 619991 Vegfa vascular endothelial growth factor A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:731072 D RGD:7488946|PMID:15289890 20131209 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16499871 619991 Vegfa vascular endothelial growth factor A gene DOID:9006618 Liver Metastasis ISO RGD:731072 D RGD:15014782|PMID:22156924 20191108 RGD associated with colorectal carcinoma;mRNA,protein:increased expression:liver: 619991 Vegfa vascular endothelial growth factor A gene DOID:9006646 Metabolic Syndrome ISO RGD:731072 D RGD:7483588|PMID:22206010 20131203 RGD protein:increased expression:plasma: 619991 Vegfa vascular endothelial growth factor A gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731072 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 619991 Vegfa vascular endothelial growth factor A gene DOID:9007 sudden infant death syndrome ISO RGD:731072 D RGD:634255|PMID:12563064 19990101 RGD protein:increased expression:cerebrospinal fluid 619991 Vegfa vascular endothelial growth factor A gene DOID:9007096 Stroke IEP D RGD:7421577|PMID:11585245 20131121 RGD protein:increased expression:brain: 619991 Vegfa vascular endothelial growth factor A gene DOID:9007102 Myocardial Ischemia ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9860779|PMID:14503966|PMID:14583313|PMID:15347709|PMID:16214533 619991 Vegfa vascular endothelial growth factor A gene DOID:9007334 Small-For-Size Syndrome treatment IMP D RGD:10053671|PMID:22151301 20150717 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731072 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619991 Vegfa vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731072 D RGD:15003197|PMID:17784864 20191107 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9007502 Brain Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 619991 Vegfa vascular endothelial growth factor A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731072 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:30090327 619991 Vegfa vascular endothelial growth factor A gene DOID:9007651 Chronic Bronchitis ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19263519 619991 Vegfa vascular endothelial growth factor A gene DOID:9007715 Endometrial Neoplasms ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 619991 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization IDA D RGD:1580564|PMID:12900522 19990101 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization IEP D RGD:7483620|PMID:8859080 20131203 RGD associated with hypoxia;mRNA:increased expression:retina: 619991 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:8547994|PMID:7846076 20140305 RGD associated with hypoxia;mRNA,protein:increased expression:retina: 619991 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:8548102|PMID:23324288 20140305 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 619991 Vegfa vascular endothelial growth factor A gene DOID:9007874 Liver Failure ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16757304 619991 Vegfa vascular endothelial growth factor A gene DOID:9008023 Memory Disorders ISO RGD:731072 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20801723 619991 Vegfa vascular endothelial growth factor A gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731072 D RGD:7483595|PMID:12633568 20131203 RGD mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid: 619991 Vegfa vascular endothelial growth factor A gene DOID:9008217 Hemorrhage ISO RGD:731072 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 619991 Vegfa vascular endothelial growth factor A gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:731072 D RGD:7483605|PMID:22307775 20131203 RGD DNA:SNP,haplotype: :rs833069(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9008660 Infantile Capillary Hemangioma disease_progression ISO RGD:731072 D RGD:155663370|PMID:26957058 20221114 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9008821 Otitis Media with Effusion IEP D RGD:8547964|PMID:22907120 20140304 RGD protein:increased expression:mucosa of middle ear: 619991 Vegfa vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:2315457|PMID:19722158 20091222 RGD protein:increased expression:breast 619991 Vegfa vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:2315461|PMID:19567820 20091223 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:905 Zellweger syndrome ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 619991 Vegfa vascular endothelial growth factor A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731072 D RGD:13432134|PMID:17983459 20160512 RGD DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9256 colorectal cancer ISO RGD:731072 D RGD:152985531|PMID:21839130 20220607 RGD mRNA:increased expression:colorectum (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9256 colorectal cancer ameliorates ISO RGD:731072 D RGD:151893289|PMID:30789971 20220420 RGD human cells in mouse model 619991 Vegfa vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:126925191|PMID:16480593 20210513 RGD 619991 Vegfa vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:153305949|PMID:23631129 20220810 RGD protein:increased expression:nasopharynx (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731072 D RGD:149735327|PMID:30123088 20210714 RGD protein:increased expression:mucosa of nasopharynx (human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:731072 D RGD:2313728|PMID:16139132 20091012 RGD mRNA, protein:increased expression:ventricle myocardium 619991 Vegfa vascular endothelial growth factor A gene DOID:9538 multiple myeloma susceptibility ISO RGD:731072 D RGD:11079182|PMID:24687381 20160513 RGD DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) 619991 Vegfa vascular endothelial growth factor A gene DOID:9743 diabetic neuropathy treatment ISO RGD:731072 D RGD:11079183|PMID:26201024 20160513 RGD associated with Diabetes Mellitus, Experimental; 619991 Vegfa vascular endothelial growth factor A gene DOID:9810 polyarteritis nodosa ISO RGD:731072 D RGD:8655581|PMID:15965421 20140516 RGD 619992 Dscam DS cell adhesion molecule gene DOID:10485 esophageal atresia ISO RGD:732493 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 619992 Dscam DS cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:732493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 619992 Dscam DS cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:732493 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 619992 Dscam DS cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:732493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619992 Dscam DS cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:732493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 619992 Dscam DS cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889 619992 Dscam DS cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732493 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 619992 Dscam DS cell adhesion molecule gene DOID:9005369 Hepatomegaly ISO RGD:732493 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:7240710 20140911 OMIM 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 PMID:23599390 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0060356 Vici syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:13703054|PMID:25222487 20180731 RGD 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:7240710 20170301 OMIM 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 PMID:23596069|PMID:25741868|PMID:28492532|PMID:34954817 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:734400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease onset ISO RGD:734401 D RGD:13703046|PMID:19374891 20180730 RGD protein:increased modification:inferior parietal cortex (human) 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13703056|PMID:25561935 20180731 RGD 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10763 hypertension IEP D RGD:7800726|PMID:24388463 20180731 RGD protein:decreased expression:heart left ventricle (rat) 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:3650 lactic acidosis ISO RGD:734400 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:630 genetic disease ISO RGD:734400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:6432 pulmonary hypertension treatment IDA D RGD:13703061|PMID:21396162 20180731 RGD chronic thromboembolic pulmonary hypertension 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:8725 vascular dementia ISO RGD:734400 D RGD:14696801|PMID:24448401 20190726 RGD 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9000099 Experimental Colitis treatment IEP D RGD:13703055|PMID:25689466 20180731 RGD 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9002231 Fetal Growth Retardation IEP D RGD:13703049|PMID:26633942 20180730 RGD protein:increased expression:retroperitoneal fat pad (rat) 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9002669 Hypoxia IEP D RGD:13703058|PMID:22401655 20180731 RGD protein:decreased expression:gastrocnemius (rat) 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:734400 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13703047|PMID:28526935 20180730 RGD protein:decreased expression:cerebral cortex, mitochondrion (rat) 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9005930 Endotoxemia ISO RGD:734400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9008691 Liver Injury IEP D RGD:13800895|PMID:25772430 20181019 RGD protein:increased expression:liver (rat) 619993 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9008824 Sarcopenia IEP D RGD:13703063|PMID:20850499 20180731 RGD protein:increased localization:gastrocnemius (rat) 619994 Suox sulfite oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:733312 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 619994 Suox sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:7240710 20130221 OMIM 619994 Suox sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria PMID:10519592|PMID:12001203|PMID:12112661|PMID:1212661|PMID:12368985|PMID:15952210|PMID:16140720|PMID:17576681|PMID:17940249|PMID:19339519|PMID:19793632|PMID:22865819|PMID:23994568|PMID:24756183|PMID:24938149|PMID:25741868|PMID:25758000|PMID:28492532|PMID:28629418|PMID:28725568|PMID:28933809|PMID:28980090|PMID:29590070|PMID:31127934|PMID:31870341|PMID:33098801|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9050047|PMID:9428520|PMID:9536098|PMID:9600976 619994 Suox sulfite oxidase gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:733312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:28492532 619994 Suox sulfite oxidase gene DOID:630 genetic disease ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12001203|PMID:12112661|PMID:12368985|PMID:19339519|PMID:23994568|PMID:25741868|PMID:28492532|PMID:28725568|PMID:29590070|PMID:31870341|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9428520|PMID:9600976 619994 Suox sulfite oxidase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:733312 D RGD:1600121|PMID:12112661 20070228 RGD DNA:mutations 619994 Suox sulfite oxidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733312 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 619994 Suox sulfite oxidase gene DOID:9452 fatty liver disease IEP D RGD:1600114|PMID:15144217 20070228 RGD protein:decreased expression:liver 619995 Trnau1ap tRNA selenocysteine 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:733380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619996 Bche butyrylcholinesterase gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16884476 619996 Bche butyrylcholinesterase gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732174 D RGD:5687690|PMID:20122907 20120208 RGD 619996 Bche butyrylcholinesterase gene DOID:0050847 sleep apnea ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18555211 619996 Bche butyrylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:732174 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 619996 Bche butyrylcholinesterase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:732175 D RGD:5688132|PMID:12383920 20120217 RGD 619996 Bche butyrylcholinesterase gene DOID:10113 trypanosomiasis IEP D RGD:5687328|PMID:20138875 20120207 RGD protein:decreased expression:plasma 619996 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23022600 619996 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:5687327|PMID:22012848 20120207 RGD 619996 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease severity ISO RGD:732174 D RGD:5688056|PMID:16973370 20120217 RGD 619996 Bche butyrylcholinesterase gene DOID:10763 hypertension ISO RGD:732174 D RGD:1601322|PMID:12387587 20070416 RGD 619996 Bche butyrylcholinesterase gene DOID:10914 amnestic disorder IMP D RGD:5688134|PMID:21771623 20120217 RGD 619996 Bche butyrylcholinesterase gene DOID:1168 familial hyperlipidemia ISO RGD:732174 D RGD:1601321|PMID:15219807 20070416 RGD protein:increased expression:serum 619996 Bche butyrylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:732174 D RGD:5688127|PMID:2953866 20120217 RGD protein:decreased expression:cerebrospinal fluid 619996 Bche butyrylcholinesterase gene DOID:1307 dementia ISO RGD:732174 D RGD:5688127|PMID:2953866 20120217 RGD associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid 619996 Bche butyrylcholinesterase gene DOID:13548 secondary Parkinson disease ISO RGD:732174 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30410011 619996 Bche butyrylcholinesterase gene DOID:1561 cognitive disorder ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003252|PMID:20513442 619996 Bche butyrylcholinesterase gene DOID:1826 epilepsy ISO RGD:732174 D RGD:5688133|PMID:7634486 20120217 RGD 619996 Bche butyrylcholinesterase gene DOID:2297 leptospirosis IEP D RGD:5688128|PMID:21921108 20120217 RGD protein:increased expression:serum 619996 Bche butyrylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20122907 619996 Bche butyrylcholinesterase gene DOID:3068 glioblastoma ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 619996 Bche butyrylcholinesterase gene DOID:3393 coronary artery disease susceptibility ISO RGD:732174 D RGD:2306777|PMID:17852836 20090505 RGD DNA:polymorphism: :p.A539T (human) 619996 Bche butyrylcholinesterase gene DOID:3602 toxic encephalopathy ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21620937 619996 Bche butyrylcholinesterase gene DOID:4247 coronary restenosis susceptibility ISO RGD:732174 D RGD:2306778|PMID:17275003 20090505 RGD DNA:polymorphism: :p.A539T (human) 619996 Bche butyrylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 619996 Bche butyrylcholinesterase gene DOID:5419 schizophrenia ISO RGD:732174 D RGD:5687326|PMID:22123563 20120207 RGD protein:increased expression:plasma 619996 Bche butyrylcholinesterase gene DOID:543 dystonia ISO RGD:732174 D RGD:5688127|PMID:2953866 20120217 RGD protein:increased expression:cerebrospinal fluid 619996 Bche butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619996 Bche butyrylcholinesterase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:732174 D RGD:1601328|PMID:9694584 20070417 RGD butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V (human) 619996 Bche butyrylcholinesterase gene DOID:769 neuroblastoma ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 619996 Bche butyrylcholinesterase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15121994 619996 Bche butyrylcholinesterase gene DOID:9000046 Poisoning ISO RGD:732174 D RGD:11554173 20181113 CTD CTD Direct Evidence: therapeutic PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815 619996 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9110359|PMID:12881446|PMID:16788378|PMID:18075469|PMID:25054547 619996 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:734636|PMID:2915989 19990101 RGD 619996 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:3169798|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 619996 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20230505 OMIM 619996 Bche butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 619996 Bche butyrylcholinesterase gene DOID:9000543 Death ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18597747 619996 Bche butyrylcholinesterase gene DOID:9000790 Postoperative Complications ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6039104 619996 Bche butyrylcholinesterase gene DOID:9001745 Fasciculation ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6465587 619996 Bche butyrylcholinesterase gene DOID:9002079 Paresis ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2249680 619996 Bche butyrylcholinesterase gene DOID:9002362 Hyperkinesis ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12019200 619996 Bche butyrylcholinesterase gene DOID:9002371 Cardiotoxicity ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26145887 619996 Bche butyrylcholinesterase gene DOID:9002554 Tachycardia ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18597747 619996 Bche butyrylcholinesterase gene DOID:9004802 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ISO RGD:732174 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type PMID:10404729|PMID:12417112|PMID:8680411|PMID:9191541|PMID:9388484 619996 Bche butyrylcholinesterase gene DOID:9004992 Apnea ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:38703|PMID:726855|PMID:900467|PMID:987736|PMID:1058931|PMID:1734774|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:7378868|PMID:7788839|PMID:7793179|PMID:12392308|PMID:12881446|PMID:15826794|PMID:21029050|PMID:25054547 619996 Bche butyrylcholinesterase gene DOID:9005246 Paralysis ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:122883|PMID:910611|PMID:1218179|PMID:1734774|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:21228368 619996 Bche butyrylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:732174 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777 619996 Bche butyrylcholinesterase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464 619996 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1599458|PMID:16187484 20070205 RGD 619996 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2306781|PMID:12379509 20090505 RGD 619996 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2306783|PMID:11478742 20090506 RGD protein:decreased expression:retina 619996 Bche butyrylcholinesterase gene DOID:9005832 Amyloid Plaques ISO RGD:732175 D RGD:5687325|PMID:22157615 20120207 RGD 619996 Bche butyrylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:732174 D RGD:5688055|PMID:17657467 20120217 RGD 619996 Bche butyrylcholinesterase gene DOID:9006588 Trismus ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7378868 619996 Bche butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23000450 619996 Bche butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:1601335|PMID:8149699 20070417 RGD associated with diabetes mellitus 619996 Bche butyrylcholinesterase gene DOID:9006646 Metabolic Syndrome ISO RGD:732174 D RGD:1601317|PMID:15907830 20070416 RGD protein:increased expression:serum 619996 Bche butyrylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3111302 619996 Bche butyrylcholinesterase gene DOID:9007096 Stroke ISO RGD:732174 D RGD:5688131|PMID:20464061 20120217 RGD protein:increased expression:serum 619996 Bche butyrylcholinesterase gene DOID:9007692 Insulin Resistance ISO RGD:732174 D RGD:2306776|PMID:17917325 20090505 RGD 619996 Bche butyrylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 619996 Bche butyrylcholinesterase gene DOID:9279 hyperhomocysteinemia IDA D RGD:1599454|PMID:16442260 20070205 RGD Protein:increased expression:serum 619996 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:1331525|PMID:15118671 19990101 GAD 619996 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:2306780|PMID:16442234 20090505 RGD 619996 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732174 D RGD:2306782|PMID:11793025 20090506 RGD DNA:polymorphism: :p.A539T (human) 619996 Bche butyrylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:732174 D RGD:5688130|PMID:21303225 20120217 RGD protein:increased expression:blood 619996 Bche butyrylcholinesterase gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:732174 D RGD:2306779|PMID:17026497 20090505 RGD DNA:polymorphism: :p.A539T (human) 619996 Bche butyrylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 619996 Bche butyrylcholinesterase gene DOID:9970 obesity ISO RGD:732174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854 619997 Fcer2 Fc epsilon receptor II gene DOID:0080490 mucolipidosis type IV ISO RGD:1354370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 619997 Fcer2 Fc epsilon receptor II gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354370 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 619997 Fcer2 Fc epsilon receptor II gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354370 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 619997 Fcer2 Fc epsilon receptor II gene DOID:14330 Parkinson's disease ISO RGD:1354370 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 619997 Fcer2 Fc epsilon receptor II gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 619997 Fcer2 Fc epsilon receptor II gene DOID:630 genetic disease ISO RGD:1354370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619997 Fcer2 Fc epsilon receptor II gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1354370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 619997 Fcer2 Fc epsilon receptor II gene DOID:9588 encephalitis ISO RGD:1354370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 619998 Tmem150a transmembrane protein 150A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 619998 Tmem150a transmembrane protein 150A gene DOID:630 genetic disease ISO RGD:1605297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 619999 Sort1 sortilin 1 gene DOID:0080600 COVID-19 ISO RGD:731682 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 619999 Sort1 sortilin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 619999 Sort1 sortilin 1 gene DOID:12849 autistic disorder ISO RGD:731682 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 619999 Sort1 sortilin 1 gene DOID:1287 cardiovascular system disease ISO RGD:731682 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25805502 619999 Sort1 sortilin 1 gene DOID:13580 cholestasis ISO RGD:731682 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 619999 Sort1 sortilin 1 gene DOID:3393 coronary artery disease ISO RGD:731682 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 619999 Sort1 sortilin 1 gene DOID:409 liver disease ISO RGD:731682 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 619999 Sort1 sortilin 1 gene DOID:630 genetic disease ISO RGD:731682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62000 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1350802 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 62000 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISS RGD:62292 D RGD:13592920 20180518 MouseDO OMIM:247200 62000 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon gene DOID:0060480 left ventricular noncompaction ISS RGD:62292 D RGD:13592920 20180518 MouseDO OMIM:604169 62000 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon gene DOID:10487 Hirschsprung's disease ISO RGD:1350802 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 62000 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350802 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:731818 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:7240710 20130221 OMIM 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 7 PMID:12659814|PMID:18690027|PMID:23591405|PMID:25741868|PMID:27176872|PMID:28191889|PMID:28492532|PMID:9634506 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:12849 autistic disorder ISO RGD:731818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:1415 gyrate atrophy ISO RGD:731818 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:25741868 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:2843 long QT syndrome ISO RGD:731818 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:3312 bipolar disorder ISO RGD:731818 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:3659 sialuria ISO RGD:731818 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:630 genetic disease ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:8501 fundus dystrophy ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12659814|PMID:18690027|PMID:25741868|PMID:27176872|PMID:28492532|PMID:9634506 620000 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731818 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 620001 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:0111590 Cohen syndrome ISO RGD:1351338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 620001 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1351338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 620001 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:630 genetic disease ISO RGD:1351338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620001 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:7240710 20200910 OMIM 620001 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive PMID:25741868|PMID:28492532|PMID:32470375 620002 Cdk5rap3 CDK5 regulatory subunit associated protein 3 gene DOID:630 genetic disease ISO RGD:731437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:0112103 Sotos syndrome 1 ISO RGD:733515 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:585 nephrolithiasis ISO RGD:733515 D RGD:7242927|PMID:22396660 20180209 RGD DNA:SNP: :rs11746443 (human) 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:630 genetic disease ISO RGD:733515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733515 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 620003 Rgs14 regulator of G-protein signaling 14 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733515 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 620004 Angptl2 angiopoietin-like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620004 Angptl2 angiopoietin-like 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733949 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620004 Angptl2 angiopoietin-like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620004 Angptl2 angiopoietin-like 2 gene DOID:10223 dermatomyositis ISS RGD:733950 D RGD:13592920 20180518 MouseDO 620004 Angptl2 angiopoietin-like 2 gene DOID:630 genetic disease ISO RGD:733949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620005 C4a complement C4A gene DOID:0050553 JMP syndrome ISO RGD:1350864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620005 C4a complement C4A gene DOID:0060297 complement component 4A deficiency ISO RGD:1350864 D RGD:7240710 20180502 OMIM 620005 C4a complement C4A gene DOID:0060297 complement component 4A deficiency ISO RGD:1350864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component 4a deficiency PMID:2295875|PMID:25741868|PMID:8473511 620005 C4a complement C4A gene DOID:12306 vitiligo ISO RGD:1350864 D RGD:5688264|PMID:21943165 20120222 RGD associated with Graves Disease 620005 C4a complement C4A gene DOID:12361 Graves' disease ISO RGD:1350864 D RGD:5688264|PMID:21943165 20120222 RGD 620005 C4a complement C4A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1350864 D RGD:5688259|PMID:19150565 20120222 RGD 620005 C4a complement C4A gene DOID:612 primary immunodeficiency disease ISO RGD:1350864 D RGD:11554173 20180508 CTD CTD Direct Evidence: marker/mechanism PMID:8473511 620005 C4a complement C4A gene DOID:630 genetic disease ISO RGD:1350864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620005 C4a complement C4A gene DOID:9005941 Rhinosinusitis disease_progression ISO RGD:1350864 D RGD:5688262|PMID:16879240 20120222 RGD DNA:deletion: : 620005 C4a complement C4A gene DOID:9074 systemic lupus erythematosus ISO RGD:1350864 D RGD:5688260|PMID:17503323 20120222 RGD 620006 Rin1 Ras and Rab interactor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1348032 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 620006 Rin1 Ras and Rab interactor 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 620006 Rin1 Ras and Rab interactor 1 gene DOID:1059 intellectual disability ISO RGD:1348032 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620006 Rin1 Ras and Rab interactor 1 gene DOID:1909 melanoma ISO RGD:1348032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 620006 Rin1 Ras and Rab interactor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620006 Rin1 Ras and Rab interactor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620006 Rin1 Ras and Rab interactor 1 gene DOID:630 genetic disease ISO RGD:1348032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620006 Rin1 Ras and Rab interactor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620006 Rin1 Ras and Rab interactor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:0050855 renal fibrosis ISO RGD:1354467 D RGD:7243130|PMID:22260463 20130507 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1354467 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:1059 intellectual disability ISO RGD:1354467 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:10591 pre-eclampsia IMP D RGD:7243127|PMID:23155181 20130507 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:10591 pre-eclampsia ISO RGD:1354467 D RGD:7243127|PMID:23155181 20130507 RGD mRNA:increased expression:placenta, decidua 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:1073 renal hypertension IEP D RGD:1625381|PMID:10779386 20070606 RGD protein:increased expression:kidney 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:1073 renal hypertension ISO RGD:1354467 D RGD:7243143|PMID:20495177 20130508 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:10763 hypertension ISO RGD:1354467 D RGD:7243136|PMID:20501636 20130508 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:10763 hypertension susceptibility ISO RGD:1354467 D RGD:1625379|PMID:17286575 20070606 RGD DNA:SNP 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:10952 nephritis IMP D RGD:12904676|PMID:25840911 20170517 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:5199 ureteral obstruction IMP D RGD:12904676|PMID:25840911 20170517 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354467 D RGD:1625380|PMID:17126841 20070606 RGD DNA:polymorphism 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:630 genetic disease ISO RGD:1354467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:6432 pulmonary hypertension ISO RGD:1354467 D RGD:7243137|PMID:20118222 20130508 RGD 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:874 bacterial pneumonia IEP D RGD:1625385|PMID:14766666 20070606 RGD protein:decreased expression:lung 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:9000528 Coronary Disease resistance ISO RGD:1354467 D RGD:1625377|PMID:17429317 20070606 RGD DNA:polymorphism:promoter:-50G>T (human) 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1354467 D RGD:7243153|PMID:21742052 20130509 RGD associated with Diabetes Mellitus, Experimental; 620007 Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 gene DOID:9004484 Sepsis IEP D RGD:1625384|PMID:15190971 20070606 RGD 620009 Coro1a coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:7240710 20140911 OMIM 620009 Coro1a coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:17576681|PMID:18836449|PMID:19097825|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:23522482|PMID:24033266|PMID:24372385|PMID:24811917|PMID:25073507|PMID:25666293|PMID:25741868|PMID:27577878|PMID:28492532|PMID:30899265|PMID:9536098 620009 Coro1a coronin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:732928 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 620009 Coro1a coronin 1A gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732928 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 620009 Coro1a coronin 1A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 620009 Coro1a coronin 1A gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISS RGD:732929 D RGD:13592920 20180518 MouseDO OMIM:608971 620009 Coro1a coronin 1A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620009 Coro1a coronin 1A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732928 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 620009 Coro1a coronin 1A gene DOID:12849 autistic disorder ISO RGD:732928 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620009 Coro1a coronin 1A gene DOID:13884 sick sinus syndrome ISO RGD:732928 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sinus node disease 620009 Coro1a coronin 1A gene DOID:1882 atrial heart septal defect ISO RGD:732928 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 620009 Coro1a coronin 1A gene DOID:305 carcinoma ISO RGD:732928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 620009 Coro1a coronin 1A gene DOID:399 tuberculosis ISO RGD:732928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16040207 620009 Coro1a coronin 1A gene DOID:5419 schizophrenia ISO RGD:732928 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620009 Coro1a coronin 1A gene DOID:627 severe combined immunodeficiency ISO RGD:732928 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 620009 Coro1a coronin 1A gene DOID:630 genetic disease ISO RGD:732928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620009 Coro1a coronin 1A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 620009 Coro1a coronin 1A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620009 Coro1a coronin 1A gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732928 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:737024 D RGD:2324916|PMID:18475301 20100518 RGD protein:increased expression:serum 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:737024 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:737024 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:7364730|PMID:21283525 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:7364762|PMID:23272068 20130926 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:737024 D RGD:7349402|PMID:23538614 20130924 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISS RGD:62293 D RGD:13592920 20180518 MouseDO 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment IDA D RGD:2324954|PMID:19415319 20100517 RGD protein:decreased expression:cornea 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:737024 D RGD:7364737|PMID:17982500 20130925 RGD associated with Graft vs Host Disease 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media IEP D RGD:2324973|PMID:11425202 20100518 RGD mRNA:increased expression:ear 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:62293 D RGD:7349405|PMID:22539951 20130924 RGD associated with CHARGE Syndrome 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer IEP D RGD:2324968|PMID:11956390 20100518 RGD mRNA, protein:decreased expression:stomach 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment IDA D RGD:7364759|PMID:16240224 20130926 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:62293 D RGD:5131205|PMID:15130904 20110425 RGD associated with Respiratory Hypersensitivity; protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:12894 Sjogren's syndrome ISO RGD:737024 D RGD:7364736|PMID:18184611 20130925 RGD mRNA:decreased expression:conjunctival epithelial cell 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:12895 keratoconjunctivitis sicca ISO RGD:62293 D RGD:7349377|PMID:14507865 20130923 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:13550 angle-closure glaucoma ISO RGD:737024 D RGD:7364742|PMID:21139981 20130925 RGD associated with Cataract;protein:decreased expression:tear 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737024 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:737024 D RGD:5131191|PMID:17255563 20110422 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:737024 D RGD:7349345|PMID:17659847 20130920 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1686 glaucoma ISO RGD:737024 D RGD:7364743|PMID:16809382 20130925 RGD protein:increased expression:conjunctival epithelial cell 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1749 squamous cell carcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:2317984|PMID:14654947 20100514 RGD protein:increased expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:2325129|PMID:19377061 20100521 RGD protein:increased glycosylation:serum 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma IEP D RGD:2324962|PMID:17590487 20110425 RGD mRNA,protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:7349354|PMID:14594655 20130920 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:7349407|PMID:21780541 20130924 RGD mRNA, protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:737024 D RGD:5131204|PMID:17698377 20110425 RGD protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma treatment ISO RGD:62293 D RGD:7364729|PMID:21549818 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:2324887|PMID:17708554 20100514 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:2324889|PMID:19954814 20100514 RGD associated with pancreatic diseases;protein:decreased expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma disease_progression ISO RGD:737024 D RGD:2324907|PMID:10227724 20100514 RGD associated with pancreatic neoplasms; mRNA:increased expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:4145655|PMID:17637221 20110425 RGD mRNA, protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:5131190|PMID:19723147 20110422 RGD protein:increased expression:bronchi 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease treatment IDA D RGD:7349406|PMID:22282955 20130924 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737024 D RGD:2324986|PMID:7657125 20100526 RGD mRNA:increased expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737024 D RGD:2324907|PMID:10227724 20100514 RGD mRNA:increased expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis IEP D RGD:5131207|PMID:14680076 20110425 RGD mRNA, protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62293 D RGD:2314537|PMID:19154443 20110425 RGD mRNA:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3910 lung adenocarcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4481 allergic rhinitis IEP D RGD:7364746|PMID:22972875 20130925 RGD mRNA, protein:increased expression:nasal cavity epithelium 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis IEP D RGD:4145454|PMID:20696593 20101104 RGD mRNA:increased expression:nose 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:737024 D RGD:7364740|PMID:15715404 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4608 common bile duct neoplasm ISO RGD:737024 D RGD:2324890|PMID:8143972 20100514 RGD protein:altered expression:pancreas 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:737024 D RGD:2324948|PMID:11680592 20100518 RGD mRNA:increased expression:bile duct 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737024 D RGD:2324990|PMID:14508831 20100518 RGD protein:increased expression:serum 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:76 stomach disease treatment IDA D RGD:7364745|PMID:23200466 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:8463 corneal ulcer ISO RGD:737024 D RGD:7364739|PMID:16251127 20130925 RGD associated with Hypersensitivity;mRNA:decreased expression:eye 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:737024 D RGD:2324651|PMID:15260848 20100514 RGD protein:decreased expression:gallbladder 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000081 Lymphatic Metastasis ISO RGD:737024 D RGD:2325168|PMID:16842244 20100521 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000156 Metaplasia ISO RGD:737024 D RGD:7364761|PMID:12612884 20130926 RGD associated with Duodenal Diseases 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis ISO RGD:737024 D RGD:2324987|PMID:16124042 20100518 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9001472 Nasal Polyps ISO RGD:737024 D RGD:7364740|PMID:15715404 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance IEP D RGD:7364747|PMID:22269441 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62293 D RGD:7349349|PMID:20138044 20130920 RGD mRNA:increased expression:cecum 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections ISO RGD:62293 D RGD:4145626|PMID:19748999 20130925 RGD associated with Pulmonary Disease, Chronic Obstructive 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections severity ISO RGD:737024 D RGD:5131431|PMID:20525715 20110427 RGD protein:increased expression:lung 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9005941 Rhinosinusitis treatment IDA D RGD:7349403|PMID:23131200 20130924 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9005941 Rhinosinusitis treatment IDA D RGD:7364734|PMID:19389874 20130925 RGD 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:737024 D RGD:7364741|PMID:15364771 20130925 RGD protein:decreased expression:bronchiole epithelium 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:62293 D RGD:7364764|PMID:22336013 20130926 RGD mRNA:decreased expression:ear 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:737024 D RGD:7364731|PMID:20713760 20130925 RGD mRNA:increased expression:middle ear 62001 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9368 keratoconjunctivitis ISO RGD:737024 D RGD:7364735|PMID:18782111 20130925 RGD mRNA:decreased expression:conjunctival epithelial cell 620010 Zhx1 zinc fingers and homeoboxes 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346071 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 620010 Zhx1 zinc fingers and homeoboxes 1 gene DOID:630 genetic disease ISO RGD:1346071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620011 Atp5f1c ATP synthase F1 subunit gamma gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732616 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 620011 Atp5f1c ATP synthase F1 subunit gamma gene DOID:0080600 COVID-19 ISO RGD:732616 D RGD:9068941 20210806 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620011 Atp5f1c ATP synthase F1 subunit gamma gene DOID:5419 schizophrenia IEP D RGD:13792655|PMID:30142370 20180919 RGD mRNA:increased expression:prefrontal cortex (rat) 620011 Atp5f1c ATP synthase F1 subunit gamma gene DOID:9970 obesity ISO RGD:732616 D RGD:14696798|PMID:19549744 20190726 RGD 620012 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:11075852|PMID:25347427 20220315 RGD DNA:missense mutation:multiple, exon 5-6 (human) 620012 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 620012 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:151665120|PMID:28803429 20220311 RGD DNA:mutation:multiple (human) 620012 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:730908 D RGD:151665203|PMID:31609782 20220315 RGD DNA:missense mutation:multiple, exon 5 (human) 620012 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:730908 D RGD:151665133|PMID:25708834 20220311 RGD 620012 Cd79b CD79b molecule gene DOID:0050746 mantle cell lymphoma ISO RGD:730908 D RGD:11531139|PMID:10329919 20160829 RGD protein:decreased expression:blood, B cell (human) 620012 Cd79b CD79b molecule gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:730908 D RGD:151665154|PMID:17374736 20220314 RGD human cells in mouse model 620012 Cd79b CD79b molecule gene DOID:0050750 splenic marginal zone lymphoma ISO RGD:730908 D RGD:11531139|PMID:10329919 20160829 RGD protein:decreased expression:blood, B cell (human) 620012 Cd79b CD79b molecule gene DOID:0050873 follicular lymphoma treatment ISO RGD:730908 D RGD:151665154|PMID:17374736 20220314 RGD human cells in mouse model 620012 Cd79b CD79b molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:730908 D RGD:151665149|PMID:19633198 20220311 RGD human cells in mouse model 620012 Cd79b CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:7240710 20130221 OMIM 620012 Cd79b CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive PMID:17576681|PMID:17675462|PMID:17709424|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 620012 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:11531139|PMID:10329919 20220314 RGD protein:decreased expression:blood, B cell (human) 620012 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:151665125|PMID:10516749 20220311 RGD protein:decreased expression:peripheral blood cells (human) 620012 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:151665152|PMID:10753858 20220311 RGD protein:decreased expression:blood cells (human) 620012 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:151665190|PMID:10090943 20220315 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) 620012 Cd79b CD79b molecule gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:730908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 620012 Cd79b CD79b molecule gene DOID:2583 agammaglobulinemia ISO RGD:730908 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620012 Cd79b CD79b molecule gene DOID:3234 central nervous system lymphoma treatment ISO RGD:730908 D RGD:151665208|PMID:28619981 20220315 RGD 620012 Cd79b CD79b molecule gene DOID:409 liver disease ISO RGD:730908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620012 Cd79b CD79b molecule gene DOID:630 genetic disease ISO RGD:730908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620012 Cd79b CD79b molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:730908 D RGD:151665154|PMID:17374736 20220314 RGD human cells in mouse model 620012 Cd79b CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:11250403|PMID:9269755 20160615 RGD protein:decreased expression:B lymphocyte, cell surface (human) 620012 Cd79b CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:151665190|PMID:10090943 20220315 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) 620012 Cd79b CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:151665202|PMID:10552962 20220315 RGD DNA:polymorphism:multiple (human) 620012 Cd79b CD79b molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730908 D RGD:11250414|PMID:21487112 20160615 RGD protein:decreased expression:bone marrow, mononuclear cell (human) 620013 Ppp1r12a protein phosphatase 1, regulatory subunit 12A gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1350163 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 620013 Ppp1r12a protein phosphatase 1, regulatory subunit 12A gene DOID:630 genetic disease ISO RGD:1350163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620013 Ppp1r12a protein phosphatase 1, regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:7240710 20200715 OMIM 620013 Ppp1r12a protein phosphatase 1, regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome PMID:25741868|PMID:28492532|PMID:31349857|PMID:31883643 620014 Mpp2 MAGUK p55 scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620015 Mpp3 MAGUK p55 scaffold protein 3 gene DOID:630 genetic disease ISO RGD:1343815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:0110983 Joubert syndrome 14 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:630 genetic disease ISO RGD:733195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733195 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733195 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:733195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620016 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733195 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060441 epithelial-stromal TGFBI dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial-stromal TGFBI dystrophy PMID:10798644|PMID:11923233|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9463327|PMID:9559741 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:7240710 20130221 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2 PMID:10798644|PMID:11923233|PMID:15059726|PMID:16606891|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9780098|PMID:9930165 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:7240710 20130221 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial basement membrane dystrophy PMID:16652336|PMID:19337156|PMID:25525159|PMID:28492532 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:7240710 20130221 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reis Bucklers dystrophy PMID:10660331|PMID:11146721|PMID:15885785|PMID:16606891|PMID:9780098|PMID:9930165 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:7240710 20130731 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:11923233|PMID:21135107|PMID:22355247|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9780098 620017 Tgfbi transforming growth factor, beta induced gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620017 Tgfbi transforming growth factor, beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:7240710 20130221 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Groenouw corneal dystrophy type I PMID:11923233|PMID:25741868|PMID:9054935|PMID:9727509 620017 Tgfbi transforming growth factor, beta induced gene DOID:12318 granular corneal dystrophy ISO RGD:1351420 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Granular corneal dystrophy 620017 Tgfbi transforming growth factor, beta induced gene DOID:2566 corneal dystrophy ISO RGD:1351420 D RGD:1599387|PMID:9054935 20070201 RGD granular dystrophy Groenouw type I, OMIM:121900, Thiel-Behnke corneal dystrophy, OMIM:602082, lattice corneal dystrophy type I , OMIM:122200, and Avellino corneal dystrophy OMIM:607541 620017 Tgfbi transforming growth factor, beta induced gene DOID:2566 corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant | ClinVar Annotator: match by term: Corneal dystrophy PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15177960|PMID:16652336|PMID:16670477|PMID:16809844|PMID:19303004|PMID:19337156|PMID:21462384|PMID:21617751|PMID:21744490|PMID:23884333|PMID:24406863|PMID:24940934|PMID:25284770|PMID:25525159|PMID:25741868|PMID:25932442|PMID:26748743|PMID:26961680|PMID:28492532|PMID:9497262 620017 Tgfbi transforming growth factor, beta induced gene DOID:2566 corneal dystrophy ISS RGD:1553285 D RGD:13592920 20200507 MouseDO 620017 Tgfbi transforming growth factor, beta induced gene DOID:557 kidney disease IEP D RGD:1599389|PMID:16308546 20070201 RGD chronic cyclosporin A-induced nephropathy 620017 Tgfbi transforming growth factor, beta induced gene DOID:630 genetic disease ISO RGD:1351420 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620017 Tgfbi transforming growth factor, beta induced gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1304421|PMID:12911551 20070201 RGD 620017 Tgfbi transforming growth factor, beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351420 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 620017 Tgfbi transforming growth factor, beta induced gene DOID:9003281 Spontaneous Abortions ISO RGD:1351420 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620017 Tgfbi transforming growth factor, beta induced gene DOID:9004303 Tubulointerstitial Fibrosis IEP D RGD:1304308|PMID:15007308 20180404 RGD mRNA, protein:increased expression:kidney 620017 Tgfbi transforming growth factor, beta induced gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351420 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620017 Tgfbi transforming growth factor, beta induced gene DOID:9004484 Sepsis ISO RGD:1351420 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27887929 620017 Tgfbi transforming growth factor, beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:7240710 20130221 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15790870|PMID:16809844|PMID:19337156|PMID:21462384|PMID:23884333|PMID:25741868|PMID:26748743|PMID:28492532|PMID:9054935|PMID:9497262|PMID:9727509 620017 Tgfbi transforming growth factor, beta induced gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620017 Tgfbi transforming growth factor, beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:7240710 20130221 OMIM 620017 Tgfbi transforming growth factor, beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type I PMID:10798644|PMID:11923233|PMID:15059726|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9463327|PMID:9559741|PMID:9727509 620018 Gzmb granzyme B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 620018 Gzmb granzyme B gene DOID:0060500 drug allergy ISO RGD:1353495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 620018 Gzmb granzyme B gene DOID:0080600 COVID-19 ISO RGD:1353495 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 620018 Gzmb granzyme B gene DOID:12849 autistic disorder ISO RGD:1353495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 620018 Gzmb granzyme B gene DOID:2237 hepatitis ISO RGD:1353495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 620018 Gzmb granzyme B gene DOID:2799 bronchiolitis obliterans ISO RGD:1353495 D RGD:5135518|PMID:19737140 20110726 RGD 620018 Gzmb granzyme B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353495 D RGD:5135516|PMID:20540777 20110726 RGD 620018 Gzmb granzyme B gene DOID:3454 brain infarction IEP D RGD:2325193|PMID:19895873 20230215 RGD protein:increased expression:brain (rat) 620018 Gzmb granzyme B gene DOID:630 genetic disease ISO RGD:1353495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620018 Gzmb granzyme B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 620018 Gzmb granzyme B gene DOID:9004610 Acute Lung Injury ISO RGD:733022 D RGD:5135517|PMID:20018616 20110726 RGD 620018 Gzmb granzyme B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620018 Gzmb granzyme B gene DOID:9008939 Breast Neoplasms ISO RGD:1353495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:7240710 20190315 OMIM 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 56 PMID:23934111|PMID:25741868|PMID:28492532|PMID:28777935|PMID:31926053|PMID:33590706|PMID:33619735|PMID:33767733|PMID:34294877|PMID:34413451|PMID:36243722 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:0080600 COVID-19 ISO RGD:736065 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736065 D RGD:127284880|PMID:31541342 20210615 RGD protein:increased expression:CSF (human) 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736065 D RGD:127284881|PMID:30309804 20210615 RGD protein:increased expression:CSF (human) 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736065 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF (human) 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:1826 epilepsy ISO RGD:736065 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31926053 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736065 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:630 genetic disease ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31926053|PMID:33590706|PMID:34294877|PMID:34413451|PMID:36243722 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:8927 learning disability ISO RGD:736065 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Specific learning disability 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736065 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF (human) 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 62002 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736065 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 620020 Ptger2 prostaglandin E receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1342884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 620020 Ptger2 prostaglandin E receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1342884 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15496426 620020 Ptger2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1342884 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620020 Ptger2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance susceptibility ISO RGD:1342884 D RGD:7240710 20230505 OMIM 620020 Ptger2 prostaglandin E receptor 2 gene DOID:1876 sexual dysfunction ISO RGD:1342884 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18726914 620020 Ptger2 prostaglandin E receptor 2 gene DOID:289 endometriosis ISO RGD:1342884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 620020 Ptger2 prostaglandin E receptor 2 gene DOID:5223 infertility ISO RGD:1342884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10359563 620020 Ptger2 prostaglandin E receptor 2 gene DOID:630 genetic disease ISO RGD:1342884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620020 Ptger2 prostaglandin E receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342884 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620021 Ihh Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1552237|RGD:1350368 D RGD:11528847|PMID:25307863 20170630 RGD 620021 Ihh Indian hedgehog signaling molecule gene DOID:0050581 brachydactyly ISO RGD:1350368 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Brachydactyly 620021 Ihh Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:1600033|PMID:12632327 20070226 RGD DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:7240710 20130221 OMIM 620021 Ihh Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocapitofemoral dysplasia PMID:12624140|PMID:12632327|PMID:25741868|PMID:28492532|PMID:34530144 620021 Ihh Indian hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1350368 D RGD:11561296|PMID:26691363 20170331 RGD protein:increased expression:serum 620021 Ihh Indian hedgehog signaling molecule gene DOID:0060850 annular pancreas ISS RGD:1552237 D RGD:13592920 20180518 MouseDO OMIM:167750 620021 Ihh Indian hedgehog signaling molecule gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1350368 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 620021 Ihh Indian hedgehog signaling molecule gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:11535949|PMID:25696018 20170630 RGD DNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:12910944|PMID:16871364 20170628 RGD DNA:missense mutation: :p.T154I (461C>T) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:12910945|PMID:12384778 20170628 RGD DNA:missense mutation: :p.N100D (298G>A) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:12910964|PMID:19277064 20170630 RGD DNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:12910965|PMID:18629882 20170630 RGD DNA:deletion:exon:p.E95del (c.283_285delGAG) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:12910970|PMID:19464397 20170630 RGD DNA:missense mutation:exon:p.158R>C (c.472C>T) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:12910974|PMID:12525541 20170630 RGD DNA:missense mutation:exon:p.E95G (284A>G) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:1600032|PMID:11455389 20070226 RGD DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human) 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:7240710 20130221 OMIM 620021 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 PMID:11455389|PMID:12384778|PMID:12525541|PMID:12566523|PMID:14043746|PMID:15886999|PMID:16871364|PMID:17486609|PMID:18794898|PMID:19252479|PMID:19277064|PMID:25741868|PMID:28492532 620021 Ihh Indian hedgehog signaling molecule gene DOID:0111816 syndactyly type 1 ISO RGD:1350368 D RGD:12910956|PMID:21167467 20170630 RGD DNA:duplications 620021 Ihh Indian hedgehog signaling molecule gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 620021 Ihh Indian hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1350368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620021 Ihh Indian hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISS RGD:1552237 D RGD:13592920 20180518 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 620021 Ihh Indian hedgehog signaling molecule gene DOID:13025 retinopathy of prematurity ISO RGD:1350368 D RGD:12910978|PMID:18787502 20170630 RGD DNA:SNP 620021 Ihh Indian hedgehog signaling molecule gene DOID:2602 chondroma ISO RGD:1552237 D RGD:12910968|PMID:26091072 20170630 RGD 620021 Ihh Indian hedgehog signaling molecule gene DOID:289 endometriosis ISO RGD:1350368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620021 Ihh Indian hedgehog signaling molecule gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 620021 Ihh Indian hedgehog signaling molecule gene DOID:5119 ovarian cyst ISO RGD:1350368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 620021 Ihh Indian hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1350368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620021 Ihh Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis IEP D RGD:12910979|PMID:24786088 20170630 RGD 620021 Ihh Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1350368 D RGD:12910979|PMID:24786088 20170630 RGD protein:increased expression:cartilage 620021 Ihh Indian hedgehog signaling molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1350368 D RGD:12910981|PMID:23121638 20170630 RGD 620021 Ihh Indian hedgehog signaling molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350368 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620021 Ihh Indian hedgehog signaling molecule gene DOID:9005639 Mandibular Fractures IEP D RGD:12911207|PMID:23992905 20170706 RGD 620021 Ihh Indian hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350368 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 620022 Gzmm granzyme M gene DOID:630 genetic disease ISO RGD:1344003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:0050700 cardiomyopathy ISO RGD:733234 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18451336 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:12140 Chagas disease ISO RGD:733234 D RGD:5509585|PMID:9148906 20111028 RGD 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:12143 neurogenic bladder ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20624991 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23408450|PMID:24033266|PMID:28166811|PMID:28492532 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:23408450|PMID:24033266|PMID:28492532 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:1358507|PMID:12116189 19990101 RGD DNA:SNP:3' utr:1890A>T (human) 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:5509584|PMID:19103464 20111028 RGD protein:decreased expression:cerebral cortex 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:1508 candidiasis ISO RGD:1552578 D RGD:5509581|PMID:19958780 20111028 RGD 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:1596 depressive disorder IEP D RGD:5509587|PMID:20830301 20111028 RGD mRNA:increased expression:brain 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:1826 epilepsy ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:2841 asthma ISO RGD:733234 D RGD:5509586|PMID:19308904 20111028 RGD DNA:SNP: :rs6962027 (human) 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:303 substance-related disorder ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20393457 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:5509579|PMID:20351719 20111028 RGD DNA:SNP: :rs324650 (human) 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:5509584|PMID:19103464 20111028 RGD protein:decreased expression:cerebral cortex 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733234 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:5419 schizophrenia ISO RGD:733234 D RGD:5509574|PMID:20691427 20111028 RGD DNA:SNP:intron: (rs324651) (human) 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:630 genetic disease ISO RGD:733234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:9000998 Brain Injuries ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:9007001 Bradycardia ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181912 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:9743 diabetic neuropathy ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20624991 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 620023 Chrm2 cholinergic receptor, muscarinic 2 gene DOID:9976 heroin dependence ISO RGD:733234 D RGD:5509583|PMID:19500151 20111028 RGD DNA:SNP:intron:rs2350780 (human) 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732798 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXc ISO RGD:732798 D RGD:7240710 20140730 OMIM 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXc ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc PMID:10905889|PMID:12930917|PMID:16199547|PMID:17576681|PMID:17689125|PMID:21646031|PMID:22899091|PMID:24102521|PMID:24389071|PMID:25266922|PMID:2558039|PMID:25741868|PMID:27207549|PMID:28492532|PMID:32697758|PMID:6962066|PMID:7562285|PMID:8896567|PMID:9384616|PMID:9536098 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease IAGP D RGD:737724|PMID:8896567 20070220 RGD DNA:missense mutation:cds:p.D215N (rat) 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:732798 D RGD:737724|PMID:8896567 19990101 RGD DNA:insertion, missense mutations:multiple (human) 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:732798 D RGD:737725|PMID:9384616 20070220 RGD DNA:missense mutation, nonsense mutation (human) 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000784 Fibrosis ISO RGD:732798 D RGD:737725|PMID:9384616 19990101 RGD associated with Glycogen Storage Disease Type Ix;DNA:mutations:multiple (human) 620024 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000866 Mauriac Syndrome ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mauriac syndrome PMID:27207549|PMID:28492532 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:19460324|PMID:24033266|PMID:25741868|PMID:28492532 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:7240710 20141126 OMIM 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency PMID:11313259|PMID:11368122|PMID:11424023|PMID:11992283|PMID:12591909|PMID:12594833|PMID:12830418|PMID:15178580|PMID:15736007|PMID:16088278|PMID:16199547|PMID:16293671|PMID:16418797|PMID:16531420|PMID:17392024|PMID:17576681|PMID:19379268|PMID:19460324|PMID:20213287|PMID:21057261|PMID:21812800|PMID:21905505|PMID:24033266|PMID:24186907|PMID:24678409|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26343451|PMID:26621323|PMID:27141500|PMID:27329137|PMID:28492532|PMID:29025965|PMID:29256176|PMID:29995221|PMID:30715640|PMID:30740107|PMID:30998751|PMID:31158284|PMID:31367980|PMID:32221732|PMID:32888943|PMID:33732252|PMID:34060650|PMID:9536098|PMID:9603732|PMID:9603733 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility IEP D RGD:14700865|PMID:23910013 20190821 RGD RNA:increased expression:peripheral blood mononuclear cell (human) 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:2316 brain ischemia ISO RGD:1349194 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:399 tuberculosis ISO RGD:1349194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:12591909|PMID:28492532|PMID:9603733 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11368122|PMID:12591909|PMID:16293671|PMID:16418797|PMID:20213287|PMID:25741868|PMID:28492532 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11313259|PMID:11424023|PMID:12591909|PMID:16293671|PMID:21057261|PMID:28492532|PMID:31367980 620025 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1349194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 620026 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1346577 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 620026 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1346577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620026 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:9000998 Brain Injuries ISO RGD:1346577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 620027 Chrm5 cholinergic receptor, muscarinic 5 gene DOID:0060001 withdrawal disorder ISO RGD:1350007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12154229 620027 Chrm5 cholinergic receptor, muscarinic 5 gene DOID:2717 Bloom syndrome ISO RGD:1350007 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620027 Chrm5 cholinergic receptor, muscarinic 5 gene DOID:630 genetic disease ISO RGD:1350007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620027 Chrm5 cholinergic receptor, muscarinic 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1350007 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:13130510 620027 Chrm5 cholinergic receptor, muscarinic 5 gene DOID:9256 colorectal cancer ISO RGD:1350007 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620028 Axl Axl receptor tyrosine kinase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1323764 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620028 Axl Axl receptor tyrosine kinase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532|PMID:32870266 620028 Axl Axl receptor tyrosine kinase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 620028 Axl Axl receptor tyrosine kinase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 620028 Axl Axl receptor tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 620028 Axl Axl receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:1323764 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 620028 Axl Axl receptor tyrosine kinase gene DOID:2340 craniosynostosis ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 620028 Axl Axl receptor tyrosine kinase gene DOID:2921 glomerulonephritis IDA D RGD:1579882|PMID:11290560 19990101 RGD 620028 Axl Axl receptor tyrosine kinase gene DOID:3192 neurilemmoma ISO RGD:1323764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 620028 Axl Axl receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323764 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22751098 620028 Axl Axl receptor tyrosine kinase gene DOID:5151 plexiform neurofibroma ISO RGD:1323764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 620028 Axl Axl receptor tyrosine kinase gene DOID:557 kidney disease ISO RGD:1323764 D RGD:1579938|PMID:15619028 19990101 RGD 620028 Axl Axl receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620028 Axl Axl receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1323764 D RGD:2325833|PMID:19252414 20100611 RGD associated Pancreatic Neoplasms 620028 Axl Axl receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323764 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 620028 Axl Axl receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620028 Axl Axl receptor tyrosine kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1323764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 620028 Axl Axl receptor tyrosine kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1323764 D RGD:1579938|PMID:15619028 19990101 RGD 620028 Axl Axl receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1323764 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 620028 Axl Axl receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:1323764 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 620028 Axl Axl receptor tyrosine kinase gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 620028 Axl Axl receptor tyrosine kinase gene DOID:9002514 Neointima IEP D RGD:631894|PMID:9758639 20160302 RGD 620028 Axl Axl receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323764 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 620028 Axl Axl receptor tyrosine kinase gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1323764 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 620028 Axl Axl receptor tyrosine kinase gene DOID:9269 maple syrup urine disease ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 620028 Axl Axl receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323764 D RGD:2325834|PMID:10528229 20100611 RGD 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:14330 Parkinson's disease treatment IMP XCO:0000498, XCO:0000520 D RGD:40924655|PMID:29530712 20210304 RGD compared to wild-type and untreated 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:1470 major depressive disorder ISO RGD:732751 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:1793 pancreatic cancer ISO RGD:732751 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:20660371 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:289 endometriosis ISO RGD:732751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:14700866|PMID:16736195 20190821 RGD mRNA,protein:increased expression:kidney 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:557 kidney disease ISO RGD:732751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:576 proteinuria ISO RGD:732751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:630 genetic disease ISO RGD:732751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:784 chronic kidney disease disease_progression IMP D RGD:12910103|PMID:24722447 20190821 RGD 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910103|PMID:24722447 20201210 RGD compared to FHH 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9001542 Albuminuria IMP D RGD:12910103|PMID:24722447 20201210 RGD compared to FHH 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732752 D RGD:14700869|PMID:22343121 20190821 RGD mRNA:increased expression:kidney 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:732752 D RGD:14700869|PMID:22343121 20190821 RGD 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910103|PMID:24722447 20201210 RGD compared to FHH 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9007692 Insulin Resistance ISO RGD:732751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 620029 Nr4a1 nuclear receptor subfamily 4, group A, member 1 gene DOID:9008675 Dyskinesias treatment IMP XCO:0000498, XCO:0000520 D RGD:40924655|PMID:29530712 20210304 RGD compared to wild-type and untreated 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:1059 intellectual disability ISO RGD:732520 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:13580 cholestasis IEP D RGD:10043349|PMID:21757639 20150521 RGD mRNA:increased expression:cholangiocyte 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:732520 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:630 genetic disease ISO RGD:732520 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9002644 Premature Aging ISO RGD:62295 D RGD:10043345|PMID:16847346 20150521 RGD 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10043348|PMID:23336172 20150521 RGD protein:increased expression:pineal gland 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2301030|PMID:18624957 20150521 RGD 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007456 Female Infertility ISO RGD:732520 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:20200203 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:732520 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:24652800 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9278 hyperargininemia ISO RGD:732520 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:27056296 62003 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9351 diabetes mellitus ISS RGD:62295 D RGD:13592920 20180518 MouseDO 620030 Nucb1 nucleobindin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 620030 Nucb1 nucleobindin 1 gene DOID:630 genetic disease ISO RGD:734023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25526675|PMID:28595002 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:7240710 20130731 OMIM 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:0111258 pentosuria ISO RGD:733826 D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Essential pentosuria PMID:22042873 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:630 genetic disease ISO RGD:733826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620031 Dcxr dicarbonyl and L-xylulose reductase gene DOID:9970 obesity ISO RGD:733826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 620032 Wbp2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:7240710 20190315 OMIM 620032 Wbp2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 107 PMID:25741868|PMID:26881968|PMID:28492532 620032 Wbp2 WW domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1348215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620033 Wbp4 WW domain binding protein 4 gene DOID:630 genetic disease ISO RGD:1348548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620034 Gpr20 G protein-coupled receptor 20 gene DOID:630 genetic disease ISO RGD:733771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620036 Ep300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348463 D RGD:151347411|PMID:30119248 20220119 RGD mRNA:increased expression:lung (human) 620036 Ep300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis treatment IMP D RGD:151347411|PMID:30119248 20220119 RGD 620036 Ep300 E1A binding protein p300 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 620036 Ep300 E1A binding protein p300 gene DOID:0050700 cardiomyopathy ISO RGD:1348463 D RGD:7364750|PMID:20375365 20130926 RGD protein:increased expression:heart left ventricle, nucleus (human) 620036 Ep300 E1A binding protein p300 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 620036 Ep300 E1A binding protein p300 gene DOID:0050834 CHARGE syndrome ISO RGD:1348463 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:29300383 620036 Ep300 E1A binding protein p300 gene DOID:0050902 medulloblastoma ISO RGD:1348463 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 620036 Ep300 E1A binding protein p300 gene DOID:0060319 cardiac arrest ISO RGD:1348463 D RGD:2312286|PMID:19577077 20090804 RGD associated with Diabetes Mellitus; mRNA:increased expression:blood (human) 620036 Ep300 E1A binding protein p300 gene DOID:0080199 colorectal carcinoma ISO RGD:1348463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15706485|PMID:24476420|PMID:25741868|PMID:28492532 620036 Ep300 E1A binding protein p300 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 620036 Ep300 E1A binding protein p300 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 620036 Ep300 E1A binding protein p300 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 620036 Ep300 E1A binding protein p300 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1348463 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 620036 Ep300 E1A binding protein p300 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348463 D RGD:2289907|PMID:14633682 20080218 RGD 620036 Ep300 E1A binding protein p300 gene DOID:1059 intellectual disability ISO RGD:1348463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:28492532|PMID:32827181|PMID:33644862 620036 Ep300 E1A binding protein p300 gene DOID:10652 Alzheimer's disease ISO RGD:1348463 D RGD:7327146|PMID:23585551 20130911 RGD mRNA:increased expression:temporal cortex (human) 620036 Ep300 E1A binding protein p300 gene DOID:10763 hypertension IEP D RGD:2312265|PMID:18292809 20090803 RGD protein:increased expression:left ventricle (rat) 620036 Ep300 E1A binding protein p300 gene DOID:10907 microcephaly ISO RGD:1348463 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:11054 urinary bladder cancer ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 620036 Ep300 E1A binding protein p300 gene DOID:1107 esophageal carcinoma ISO RGD:1348463 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:26619011 620036 Ep300 E1A binding protein p300 gene DOID:114 heart disease IEP D RGD:2311717|PMID:18697823 20090731 RGD associated with Hypertension; protein:increased expression:heart (rat) 620036 Ep300 E1A binding protein p300 gene DOID:12858 Huntington's disease ISO RGD:1552027 D RGD:13432192|PMID:12586550 20170925 RGD 620036 Ep300 E1A binding protein p300 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532 620036 Ep300 E1A binding protein p300 gene DOID:1520 colon carcinoma ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10700188 620036 Ep300 E1A binding protein p300 gene DOID:1749 squamous cell carcinoma ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 620036 Ep300 E1A binding protein p300 gene DOID:1909 melanoma ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23698071 620036 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:1580966|PMID:15706485 19990101 RGD DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human) 620036 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:7240710 20130221 OMIM 620036 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:7296921|PMID:17220215 20130904 RGD DNA:nonsense mutation, deletions:multiple (human) 620036 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209|PMID:29300383|PMID:29706646|PMID:30076641|PMID:32860008 620036 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862 620036 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30076641|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862|PMID:9536098 620036 Ep300 E1A binding protein p300 gene DOID:224 transient cerebral ischemia IEP D RGD:7349341|PMID:22196858 20130919 RGD mRNA:increased expression:cerebrum, ipsilateral side (rat) 620036 Ep300 E1A binding protein p300 gene DOID:2671 transitional cell carcinoma ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 620036 Ep300 E1A binding protein p300 gene DOID:2671 transitional cell carcinoma ISO RGD:1348463 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 620036 Ep300 E1A binding protein p300 gene DOID:2920 membranoproliferative glomerulonephritis treatment IMP D RGD:9588308|PMID:24344329 20141027 RGD 620036 Ep300 E1A binding protein p300 gene DOID:2921 glomerulonephritis ISO RGD:1348463 D RGD:7327154|PMID:17125594 20130912 RGD protein:increased expression:glomerulus, renal tubule (human) 620036 Ep300 E1A binding protein p300 gene DOID:3459 breast carcinoma ISO RGD:1348463 D RGD:2289908|PMID:12725419 20080218 RGD protein:increased expression:breast 620036 Ep300 E1A binding protein p300 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348463 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:17965222|PMID:25151357 620036 Ep300 E1A binding protein p300 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:9588310|PMID:24488106 20141027 RGD mRNA:decreased expression:lung 620036 Ep300 E1A binding protein p300 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 620036 Ep300 E1A binding protein p300 gene DOID:3910 lung adenocarcinoma ISO RGD:1348463 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 620036 Ep300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348463 D RGD:15036804|PMID:28551630 20191115 RGD mRNA, protein:increased expression:kidney 620036 Ep300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1348463 D RGD:7296925|PMID:23029358 20130904 RGD mRNA:altered expression:kidney, tumor (human) 620036 Ep300 E1A binding protein p300 gene DOID:5409 lung small cell carcinoma ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 620036 Ep300 E1A binding protein p300 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 620036 Ep300 E1A binding protein p300 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348463 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:6000 congestive heart failure ISO RGD:1348463 D RGD:2312280|PMID:12724418 20180628 RGD 620036 Ep300 E1A binding protein p300 gene DOID:630 genetic disease ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11331617|PMID:17299436|PMID:18792986|PMID:21679367|PMID:24352918|PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:27964710|PMID:28492532|PMID:29133209 620036 Ep300 E1A binding protein p300 gene DOID:684 hepatocellular carcinoma IEP D RGD:2312274|PMID:17083329 20090803 RGD protein:increased expression:liver (rat) 620036 Ep300 E1A binding protein p300 gene DOID:687 hepatoblastoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 620036 Ep300 E1A binding protein p300 gene DOID:8947 diabetic retinopathy IMP D RGD:7349382|PMID:21885871 20130924 RGD associated with Diabetes Mellitus, Experimental 620036 Ep300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:7240710 20190315 OMIM 620036 Ep300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 PMID:18414213|PMID:24381114|PMID:24728327|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29460469|PMID:30143558|PMID:32851286 620036 Ep300 E1A binding protein p300 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1348463 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:28492532 620036 Ep300 E1A binding protein p300 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2311716|PMID:19268536 20090731 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:2311716|PMID:19268536 20130904 RGD associated with Diabetes Mellitus, Experimental 620036 Ep300 E1A binding protein p300 gene DOID:9002211 Hyperalgesia IMP D RGD:9588307|PMID:25263804 20141027 RGD 620036 Ep300 E1A binding protein p300 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348463 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 620036 Ep300 E1A binding protein p300 gene DOID:9003748 Thumb Deformity ISO RGD:1348463 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:9003936 Cardiomegaly IEP D RGD:7327187|PMID:23211718 20130916 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9004009 Reperfusion Injury IEP D RGD:5686888|PMID:22143029 20130920 RGD retina; protein:altered localization:Hsp70, promoter (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:5686888|PMID:22143029 20130920 RGD retina 620036 Ep300 E1A binding protein p300 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:29300383 620036 Ep300 E1A binding protein p300 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348463 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:9004484 Sepsis IEP D RGD:7364733|PMID:20538901 20130925 RGD mRNA, protein:increased expression:muscle part of extensor digitorum longus (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9004756 Brain Hypoxia IEP D RGD:2311713|PMID:19103185 20090731 RGD mRNA, protein:increased expression:hippocampus (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9004974 Painful Neuropathy IEP D RGD:7327202|PMID:23176208 20130917 RGD mRNA:increased expression:lumbar spinal cord (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9004974 Painful Neuropathy treatment IMP D RGD:7327202|PMID:23176208 20130917 RGD 620036 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312287|PMID:18657544 20090804 RGD mRNA:increased expression:heart (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2312263|PMID:18413674 20090804 RGD 620036 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552027 D RGD:2312288|PMID:18351623 20090804 RGD mRNA:increased expression:retina, kidney (mouse) 620036 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7296926|PMID:22228707 20130904 RGD 620036 Ep300 E1A binding protein p300 gene DOID:9005930 Endotoxemia IEP D RGD:7257563|PMID:23936185 20130823 RGD associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney PMID:25741868|PMID:28492532|PMID:30143558 620036 Ep300 E1A binding protein p300 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7257563|PMID:23936185 20130823 RGD protein:altered localization:kidney (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9007159 Nervous System Lead Poisoning IEP D RGD:9588309|PMID:24291742 20141027 RGD mRNA:increased expression:hippocampus 620036 Ep300 E1A binding protein p300 gene DOID:9007653 Multiple Abnormalities ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:18792986|PMID:21679367|PMID:24352918|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29133209 620036 Ep300 E1A binding protein p300 gene DOID:9007661 Dwarfism ISO RGD:1348463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 620036 Ep300 E1A binding protein p300 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 620036 Ep300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:7349392|PMID:21705428 20130924 RGD protein:decreased expression:retinal ganglion cell layer (rat) 620036 Ep300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1348463 D RGD:7349392|PMID:21705428 20130924 RGD human gene in rat model 620036 Ep300 E1A binding protein p300 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348463 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 620036 Ep300 E1A binding protein p300 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26921506 620036 Ep300 E1A binding protein p300 gene DOID:9008939 Breast Neoplasms ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 620036 Ep300 E1A binding protein p300 gene DOID:9074 systemic lupus erythematosus ISS RGD:1552027 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 620036 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:7240710 20200226 OMIM 620036 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:26486927|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209 620036 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209 620036 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209|PMID:30143558 620036 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30143558 620036 Ep300 E1A binding protein p300 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552027 D RGD:7257568|PMID:23737551 20130826 RGD protein:increased serine phosphorylation:renal glomerulus (mouse) 620036 Ep300 E1A binding protein p300 gene DOID:9970 obesity ISO RGD:1348463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26441656 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:31664448 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1348797 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868|PMID:31389005 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:7240710 20140911 OMIM 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) PMID:18414213|PMID:21529751|PMID:21529752|PMID:24033266|PMID:25326635|PMID:25332407|PMID:25741868|PMID:26206584|PMID:26467025|PMID:28492532|PMID:30637988 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:1059 intellectual disability ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25326635|PMID:25741868|PMID:28492532 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:12849 autistic disorder ISO RGD:1348797 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:9536098 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:9536098 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:1826 epilepsy ISO RGD:1348797 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1348797 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:16541094 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:3627 aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22001912|PMID:25741868|PMID:28492532 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348797 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:4080 tricuspid valve insufficiency ISO RGD:1348797 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:520 aortic disease ISO RGD:1348797 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25741868|PMID:28492532 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:5419 schizophrenia ISO RGD:1348797 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:630 genetic disease ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532|PMID:9536098 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:65 connective tissue disease ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:22001912|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:27153395|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:32368696|PMID:9536098 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:8445 intestinal volvulus ISO RGD:1348797 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27884122|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28367076|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29179725|PMID:29441698|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:35535697|PMID:9536098 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1348797 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:17576681|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:9536098 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:7240710 20140416 OMIM 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly and microcephaly PMID:10762554|PMID:18414213|PMID:22526350|PMID:25326635|PMID:25332407|PMID:25741868|PMID:28492532|PMID:30637988 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9007096 Stroke ISO RGD:1348797 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348797 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348797 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 620038 Nde1 nudE neurodevelopment protein 1 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:17576681|PMID:18391202|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29907982|PMID:31389005|PMID:32238909|PMID:9536098 620039 Prdx1 peroxiredoxin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620039 Prdx1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:7240710 20190315 OMIM 620039 Prdx1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868|PMID:28492532 620039 Prdx1 peroxiredoxin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733744 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 620039 Prdx1 peroxiredoxin 1 gene DOID:0080600 COVID-19 ISO RGD:733744 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620039 Prdx1 peroxiredoxin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:733744 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620039 Prdx1 peroxiredoxin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620039 Prdx1 peroxiredoxin 1 gene DOID:10320 asbestosis ISO RGD:733744 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 620039 Prdx1 peroxiredoxin 1 gene DOID:1395 schistosomiasis ISO RGD:733744 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19041905 620039 Prdx1 peroxiredoxin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733744 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 620039 Prdx1 peroxiredoxin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 620039 Prdx1 peroxiredoxin 1 gene DOID:630 genetic disease ISO RGD:733744 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620039 Prdx1 peroxiredoxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733744 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 620039 Prdx1 peroxiredoxin 1 gene DOID:9000058 Keloid ISO RGD:733744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 620039 Prdx1 peroxiredoxin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733744 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 620039 Prdx1 peroxiredoxin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733744 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 620039 Prdx1 peroxiredoxin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733744 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: X-linked syndromic intellectual disability PMID:22452838|PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:733678 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733678 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:7240710 20130221 OMIM 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type PMID:16199547|PMID:17576681|PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21609947|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22495306|PMID:22709267|PMID:23165780|PMID:23406872|PMID:23871722|PMID:23901204|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27173948|PMID:27652284|PMID:27799067|PMID:28132688|PMID:28407358|PMID:28492532|PMID:28783747|PMID:28944139|PMID:29691940|PMID:29878067|PMID:30549415|PMID:31474318|PMID:31785789|PMID:33090494|PMID:33504798|PMID:9536098 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0070338 cerebellar hypoplasia ISO RGD:733678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21735175|PMID:25326635|PMID:25741868|PMID:31474318|PMID:32581362 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:10283 prostate cancer ISO RGD:733678 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:1059 intellectual disability ISO RGD:733678 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:10907 microcephaly ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:12849 autistic disorder ISO RGD:733678 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:13628 favism ISO RGD:733678 D RGD:11554173 20181204 CTD CTD Direct Evidence: marker/mechanism 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:11576290|PMID:19200522 20170105 RGD DNA:missense mutation:exon:p.R28L (c.83G>T) (human) 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:1826 epilepsy ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:2786 cerebellar disease ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:305 carcinoma ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:543 dystonia ISO RGD:733678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:630 genetic disease ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23871722|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944139 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:62296 D RGD:11576291|PMID:9787075 20170105 RGD DNA:insertion 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9787075 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:733678 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000459 Acholinesterasemia ISO RGD:733678 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000998 Brain Injuries IEP D RGD:11576302|PMID:25089700 20170106 RGD 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:7240710 20200226 OMIM 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 PMID:18414213|PMID:19165920|PMID:19200522|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23406872|PMID:23871722|PMID:24505460|PMID:24781210|PMID:25741868|PMID:27652284|PMID:27799067|PMID:28492532|PMID:28944139|PMID:29878067|PMID:30549415|PMID:33090494 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733678 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733678 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:733678 D RGD:734690|PMID:9722958 19990101 RGD 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:733678 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19165920|PMID:19377476 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9006534 Nervous System Malformations ISO RGD:733678 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9008086 Developmental Disabilities ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 62004 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9008582 Developmental Disease ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620040 Prdx3 peroxiredoxin 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1349610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 620040 Prdx3 peroxiredoxin 3 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349610 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868 620040 Prdx3 peroxiredoxin 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1349610 D RGD:11554173 20220308 CTD CTD Direct Evidence: therapeutic PMID:34678374 620040 Prdx3 peroxiredoxin 3 gene DOID:0080600 COVID-19 ISO RGD:1349610 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620040 Prdx3 peroxiredoxin 3 gene DOID:10603 glucose intolerance IEP D RGD:11532750|PMID:27523322 20160906 RGD associated with obesity; 620040 Prdx3 peroxiredoxin 3 gene DOID:11476 osteoporosis ISO RGD:1349610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 620040 Prdx3 peroxiredoxin 3 gene DOID:231 motor neuron disease ISO RGD:1349610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16702190 620040 Prdx3 peroxiredoxin 3 gene DOID:630 genetic disease ISO RGD:1349610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620040 Prdx3 peroxiredoxin 3 gene DOID:9000918 Disease Progression ISO RGD:1349610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 620040 Prdx3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:7240710 20220615 OMIM 620040 Prdx3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-Descemet PMID:31782998|PMID:34369396 620040 Prdx3 peroxiredoxin 3 gene DOID:9003435 Autosomal Recessive Spinocerebellar Ataxia 32 ISO RGD:1349610 D RGD:7240710 20220518 OMIM 620040 Prdx3 peroxiredoxin 3 gene DOID:9003435 Autosomal Recessive Spinocerebellar Ataxia 32 ISO RGD:1349610 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 PMID:25741868|PMID:33889951|PMID:35766882|PMID:35792670 620040 Prdx3 peroxiredoxin 3 gene DOID:9007692 Insulin Resistance IEP D RGD:11532750|PMID:27523322 20160906 RGD associated with obesity; 620041 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:0080600 COVID-19 ISO RGD:736319 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620041 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736319 D RGD:14696810|PMID:28672194 20190730 RGD 620041 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:630 genetic disease ISO RGD:736319 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620041 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:684 hepatocellular carcinoma ISO RGD:736319 D RGD:14696822|PMID:18932288 20190730 RGD associated with hepatitis C 620042 Il18bp interleukin 18 binding protein gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1348622 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 620042 Il18bp interleukin 18 binding protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 620042 Il18bp interleukin 18 binding protein gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 620042 Il18bp interleukin 18 binding protein gene DOID:1059 intellectual disability ISO RGD:1348622 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620042 Il18bp interleukin 18 binding protein gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1348622 D RGD:14696666|PMID:15566508 20190710 RGD protein:increased expression:plasma: 620042 Il18bp interleukin 18 binding protein gene DOID:1485 cystic fibrosis ISO RGD:1348622 D RGD:4889551|PMID:20026745 20101206 RGD protein:increased expression:serum 620042 Il18bp interleukin 18 binding protein gene DOID:1884 viral hepatitis ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to PMID:25741868|PMID:28492532|PMID:31213488 620042 Il18bp interleukin 18 binding protein gene DOID:2349 arteriosclerosis ISO RGD:1551696 D RGD:4892618|PMID:11577031 20110225 RGD 620042 Il18bp interleukin 18 binding protein gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1348622 D RGD:8655940|PMID:12874202 20140523 RGD 620042 Il18bp interleukin 18 binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348622 D RGD:4889551|PMID:20026745 20101206 RGD protein:increased expression:serum 620042 Il18bp interleukin 18 binding protein gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1348622 D RGD:14695542|PMID:12462332 20190708 RGD protein:increased expression:plasma: 620042 Il18bp interleukin 18 binding protein gene DOID:5844 myocardial infarction ISO RGD:1348622 D RGD:4889400|PMID:19805173 20101201 RGD 620042 Il18bp interleukin 18 binding protein gene DOID:630 genetic disease ISO RGD:1348622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620042 Il18bp interleukin 18 binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348622 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620042 Il18bp interleukin 18 binding protein gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:14696667|PMID:25919765 20190710 RGD mRNA,protein:increased expression:liver 620042 Il18bp interleukin 18 binding protein gene DOID:9004283 Transplant Rejection IMP D RGD:8655943|PMID:21962809 20140523 RGD 620042 Il18bp interleukin 18 binding protein gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2313895|PMID:18959458 20110225 RGD mRNA:increased expression:mammary gland 620042 Il18bp interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348622 D RGD:4889400|PMID:19805173 20101201 RGD 620042 Il18bp interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551696 D RGD:4889578|PMID:19164288 20101207 RGD mRNA:increased expression:heart 620043 Prdx4 peroxiredoxin 4 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 620043 Prdx4 peroxiredoxin 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731497 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620043 Prdx4 peroxiredoxin 4 gene DOID:10603 glucose intolerance ISO RGD:731497 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20446767 620043 Prdx4 peroxiredoxin 4 gene DOID:12849 autistic disorder ISO RGD:731497 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620043 Prdx4 peroxiredoxin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:731497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 620043 Prdx4 peroxiredoxin 4 gene DOID:4195 hyperglycemia ISO RGD:731497 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20446767 620043 Prdx4 peroxiredoxin 4 gene DOID:630 genetic disease ISO RGD:731497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620043 Prdx4 peroxiredoxin 4 gene DOID:9000918 Disease Progression ISO RGD:731497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 620043 Prdx4 peroxiredoxin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731497 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620044 Guca2b guanylate cyclase activator 2B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736719 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620044 Guca2b guanylate cyclase activator 2B gene DOID:1184 nephrotic syndrome ISO RGD:736719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 620044 Guca2b guanylate cyclase activator 2B gene DOID:630 genetic disease ISO RGD:736719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620044 Guca2b guanylate cyclase activator 2B gene DOID:783 end stage renal disease ISO RGD:736719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 620045 Mutyh mutY DNA glycosylase gene DOID:0050424 familial adenomatous polyposis ISO RGD:731074 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15987719 620045 Mutyh mutY DNA glycosylase gene DOID:0050424 familial adenomatous polyposis ISO RGD:731074 D RGD:1600191|PMID:11818965 20070302 RGD 620045 Mutyh mutY DNA glycosylase gene DOID:0050424 familial adenomatous polyposis ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis PMID:11818965|PMID:12606733|PMID:12707038|PMID:12917422|PMID:14991577|PMID:15034862|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16140997|PMID:16408224|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16941501|PMID:17031395|PMID:17161978|PMID:17489848|PMID:17524638|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18271935|PMID:18506705|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22922830|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:25937855|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29484706|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620045 Mutyh mutY DNA glycosylase gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:25741868|PMID:28492532 620045 Mutyh mutY DNA glycosylase gene DOID:0070271 Lynch syndrome 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:7240710 20130425 OMIM 620045 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18787472|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25326637|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28577310|PMID:28634180|PMID:28644590 620045 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30675318|PMID:30676620|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31666926|PMID:31739127|PMID:31742824|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390703|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32904697|PMID:32973888|PMID:33011440|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33878367|PMID:34285288|PMID:9536098|PMID:9846876 620045 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720 620045 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32029870|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 620045 Mutyh mutY DNA glycosylase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:16134147|PMID:16287072|PMID:16455870|PMID:16557584|PMID:17081686|PMID:17949294|PMID:18534194|PMID:19279422|PMID:19394335|PMID:19732775|PMID:20618354|PMID:23108399|PMID:24444654|PMID:24569162|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26446593|PMID:26467025|PMID:26556299|PMID:27829682|PMID:27870730|PMID:28152038|PMID:28492532|PMID:28551381|PMID:29406563|PMID:30604180|PMID:31942411|PMID:33130102 620045 Mutyh mutY DNA glycosylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731074 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620045 Mutyh mutY DNA glycosylase gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620045 Mutyh mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:7240710 20220209 OMIM 620045 Mutyh mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:11092888|PMID:11433026|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12606733|PMID:14618256|PMID:15180946|PMID:15273732|PMID:15890374|PMID:16134147|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17161978|PMID:17219385|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18506705|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21520333|PMID:22266422|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23507534|PMID:23605219|PMID:24033266|PMID:24377541|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:24799981|PMID:25151137|PMID:25197429|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26600934|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26902849|PMID:26976419|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27443514|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29915346|PMID:30067863|PMID:30093976|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32904697|PMID:33024574|PMID:33193653|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:36988593 620045 Mutyh mutY DNA glycosylase gene DOID:1380 endometrial cancer ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial cancer, somatic PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:35535697|PMID:9536098 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33504652|PMID:35535697|PMID:9536098 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:35535697|PMID:35668106|PMID:9536098 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697 620045 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32973888|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34716202|PMID:34897210|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098 620045 Mutyh mutY DNA glycosylase gene DOID:1612 breast cancer ISO RGD:731074 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:16557584|PMID:21195604|PMID:25741868|PMID:26467025|PMID:26900293|PMID:28492532 620045 Mutyh mutY DNA glycosylase gene DOID:219 colon cancer ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: Malignant tumor of colon PMID:11818965|PMID:12606733|PMID:12853198|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17576681|PMID:17956577|PMID:18495334|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:9536098 620045 Mutyh mutY DNA glycosylase gene DOID:2394 ovarian cancer ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15236166|PMID:16042573|PMID:16890597|PMID:18091433|PMID:18301448|PMID:19279422|PMID:20618354|PMID:20848659|PMID:21195604|PMID:23322991|PMID:25741868|PMID:25820570|PMID:28492532|PMID:34704405 620045 Mutyh mutY DNA glycosylase gene DOID:2871 endometrial carcinoma ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652 620045 Mutyh mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27829682|PMID:27870730|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29406563|PMID:29766397|PMID:30604180 620045 Mutyh mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29406563|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32658311|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33130102|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 620045 Mutyh mutY DNA glycosylase gene DOID:4001 ovarian carcinoma ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:5374 pilomatrixoma ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:11801590|PMID:11818965|PMID:12606733|PMID:12917422|PMID:15236166|PMID:15673720|PMID:15931596|PMID:15987719|PMID:16042573|PMID:16492921|PMID:16557584|PMID:16890597|PMID:17489848|PMID:17956577|PMID:18091433|PMID:18301448|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20687945|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24733792|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34704405|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:5517 stomach carcinoma ISO RGD:731074 D RGD:1600201|PMID:15273732 20070302 RGD 620045 Mutyh mutY DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731074 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620045 Mutyh mutY DNA glycosylase gene DOID:630 genetic disease ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 620045 Mutyh mutY DNA glycosylase gene DOID:687 hepatoblastoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 620045 Mutyh mutY DNA glycosylase gene DOID:768 retinoblastoma ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:26947005|PMID:28135145|PMID:28492532|PMID:30267214 620045 Mutyh mutY DNA glycosylase gene DOID:9000217 Stomach Neoplasms ISO RGD:731074 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism 620045 Mutyh mutY DNA glycosylase gene DOID:9000217 Stomach Neoplasms ISO RGD:731074 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:9002199 Paragangliomas 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652 620045 Mutyh mutY DNA glycosylase gene DOID:9002928 Colonic Neoplasms ISO RGD:731074 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25030372 620045 Mutyh mutY DNA glycosylase gene DOID:9002928 Colonic Neoplasms ISO RGD:731074 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16890597|PMID:19394335|PMID:19732775|PMID:20618354|PMID:20628285|PMID:21520333|PMID:25741868|PMID:26446593|PMID:27829682|PMID:28492532 620045 Mutyh mutY DNA glycosylase gene DOID:9005655 Paragangliomas 2 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paragangliomas 2 PMID:21153778|PMID:24033266|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30122538|PMID:32868316|PMID:34816434 620045 Mutyh mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612827|PMID:10713439|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:15034862|PMID:15036665|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15681617|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27347161|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381 620045 Mutyh mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30151276|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31613886|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33223521|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 620045 Mutyh mutY DNA glycosylase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16287072|PMID:18091433|PMID:19953527|PMID:20418187|PMID:22252118|PMID:24033266|PMID:25186627|PMID:25307848|PMID:25503501|PMID:25741868|PMID:25820570|PMID:27829682|PMID:28492532|PMID:32658311 620045 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:30487145|PMID:30604180|PMID:31104418|PMID:31203172|PMID:31739127|PMID:32665031|PMID:32821650 620045 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650 620045 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650|PMID:35535697 620045 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27705013|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29330641|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31739127|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 620046 Rxrg retinoid X receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:733408 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620046 Rxrg retinoid X receptor gamma gene DOID:3908 lung non-small cell carcinoma ISO RGD:733408 D RGD:13503326|PMID:20113835 20180110 RGD DNA:hypermethylation:promoter 620046 Rxrg retinoid X receptor gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733408 D RGD:13792605|PMID:28677753 20180917 RGD mRNA:increased expression:thyroid 620046 Rxrg retinoid X receptor gamma gene DOID:630 genetic disease ISO RGD:733408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620046 Rxrg retinoid X receptor gamma gene DOID:9007102 Myocardial Ischemia ISO RGD:733408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620046 Rxrg retinoid X receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733408 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620047 Il2 interleukin 2 gene DOID:0050127 sinusitis ISO RGD:730858 D RGD:8662964|PMID:11758471 20140630 RGD 620047 Il2 interleukin 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 620047 Il2 interleukin 2 gene DOID:0050589 inflammatory bowel disease ISS RGD:733315 D RGD:13592920 20180518 MouseDO 620047 Il2 interleukin 2 gene DOID:0050865 tongue squamous cell carcinoma IEP D RGD:8662972|PMID:17338814 20140701 RGD protein:decreased expression:serum: 620047 Il2 interleukin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730858 D RGD:8662949|PMID:10389944 20140630 RGD 620047 Il2 interleukin 2 gene DOID:0060224 atrial fibrillation ISO RGD:730858 D RGD:8662962|PMID:17923414 20140630 RGD 620047 Il2 interleukin 2 gene DOID:0060500 drug allergy ISO RGD:730858 D RGD:8662975|PMID:1549655 20140701 RGD 620047 Il2 interleukin 2 gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:127284843|PMID:29229353 20210609 RGD 620047 Il2 interleukin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733315 D RGD:4891446|PMID:19906920 20200617 RGD 620047 Il2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 620047 Il2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 620047 Il2 interleukin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730858 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 620047 Il2 interleukin 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:730858 D RGD:8662939|PMID:2786308 20140630 RGD 620047 Il2 interleukin 2 gene DOID:0081267 graft-versus-host disease ISO RGD:730858 D RGD:5147911|PMID:21734238 20110829 RGD 620047 Il2 interleukin 2 gene DOID:0081267 graft-versus-host disease ISO RGD:730858 D RGD:8662974|PMID:8704686 20140701 RGD 620047 Il2 interleukin 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:730858 D RGD:5147908|PMID:21570674 20110826 RGD protein:increased expression:aqueous humor 620047 Il2 interleukin 2 gene DOID:10003 sensorineural hearing loss ISO RGD:730858 D RGD:8662926|PMID:9693304 20140627 RGD 620047 Il2 interleukin 2 gene DOID:104 bacterial infectious disease ISO RGD:730858 D RGD:5147907|PMID:21574159 20110826 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood 620047 Il2 interleukin 2 gene DOID:10652 Alzheimer's disease ISO RGD:730858 D RGD:10047080|PMID:8915041 20150708 RGD 620047 Il2 interleukin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:730858 D RGD:10047081|PMID:8586980 20150708 RGD protein:increased secretion:mononuclear cell: 620047 Il2 interleukin 2 gene DOID:1067 open-angle glaucoma ISO RGD:730858 D RGD:5147910|PMID:21834929 20110829 RGD protein:decreased expression:aqueous humor 620047 Il2 interleukin 2 gene DOID:10754 otitis media disease_progression ISO RGD:733315 D RGD:8662922|PMID:7769948 20140627 RGD 620047 Il2 interleukin 2 gene DOID:10914 amnestic disorder ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 620047 Il2 interleukin 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:730858 D RGD:8662931|PMID:8737779 20140627 RGD 620047 Il2 interleukin 2 gene DOID:11054 urinary bladder cancer ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:3495671 620047 Il2 interleukin 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:730858 D RGD:8663471|PMID:3262172 20140703 RGD 620047 Il2 interleukin 2 gene DOID:11168 anogenital venereal wart ISO RGD:730858 D RGD:40400714|PMID:23754510 20201103 RGD protein:decreased expression:peripheral blood mononuclear cells (human) 620047 Il2 interleukin 2 gene DOID:1184 nephrotic syndrome ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19242727 620047 Il2 interleukin 2 gene DOID:1205 allergic disease ISO RGD:733315 D RGD:5147912|PMID:21509781 20110829 RGD 620047 Il2 interleukin 2 gene DOID:12306 vitiligo ISO RGD:730858 D RGD:8663475|PMID:22342018 20140703 RGD protein:increased expression:serum: 620047 Il2 interleukin 2 gene DOID:12361 Graves' disease ISO RGD:730858 D RGD:8662947|PMID:2279527 20140630 RGD 620047 Il2 interleukin 2 gene DOID:1240 leukemia ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17500047 620047 Il2 interleukin 2 gene DOID:12704 ataxia telangiectasia ISO RGD:730858 D RGD:8693328|PMID:6432389 20140710 RGD 620047 Il2 interleukin 2 gene DOID:12849 autistic disorder ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360218|PMID:18929414 620047 Il2 interleukin 2 gene DOID:12894 Sjogren's syndrome ISS RGD:733315 D RGD:13592920 20180518 MouseDO OMIM:270150 620047 Il2 interleukin 2 gene DOID:13141 uveitis ISO RGD:730858 D RGD:7365086|PMID:10865312 20180201 RGD protein:increased expression:aqueous humor,serum 620047 Il2 interleukin 2 gene DOID:13241 Behcet's disease ISO RGD:730858 D RGD:5147902|PMID:21640045 20110826 RGD DNA:polymorphism:promoter (human) 620047 Il2 interleukin 2 gene DOID:13580 cholestasis treatment ISO RGD:733315 D RGD:14928214|PMID:29698570 20190913 RGD 620047 Il2 interleukin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12579325 620047 Il2 interleukin 2 gene DOID:1470 major depressive disorder ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12635532 620047 Il2 interleukin 2 gene DOID:1474 aggressive periodontitis ISO RGD:730858 D RGD:5147873|PMID:21730256 20110825 RGD 620047 Il2 interleukin 2 gene DOID:1577 limited scleroderma susceptibility ISO RGD:730858 D RGD:4142872|PMID:17444587 20140702 RGD DNA:polymorphism::-384T>G(human) 620047 Il2 interleukin 2 gene DOID:1679 cystitis IDA D RGD:5147913|PMID:20860016 20110829 RGD 620047 Il2 interleukin 2 gene DOID:1749 squamous cell carcinoma treatment ISO RGD:730858 D RGD:8663457|PMID:11023201 20140702 RGD 620047 Il2 interleukin 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:730858 D RGD:8663440|PMID:9080118 20140702 RGD 620047 Il2 interleukin 2 gene DOID:1883 hepatitis C ISO RGD:730858 D RGD:40400745|PMID:17553896 20201109 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 620047 Il2 interleukin 2 gene DOID:1884 viral hepatitis susceptibility ISO RGD:730858 D RGD:14747036|PMID:21162873 20190911 RGD DNA:polymorphism::-330T>G(human) 620047 Il2 interleukin 2 gene DOID:1909 melanoma ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12374674|PMID:12439608|PMID:15577323|PMID:15917704|PMID:16131448|PMID:16248763|PMID:16260693|PMID:16432458|PMID:16809738|PMID:16939954|PMID:17023156|PMID:17105418|PMID:17576460|PMID:17709802|PMID:17761969|PMID:18176117|PMID:18281670|PMID:18298334|PMID:18332650|PMID:18999936|PMID:19243244|PMID:20423231 620047 Il2 interleukin 2 gene DOID:1936 atherosclerosis ISO RGD:733315 D RGD:5147904|PMID:21606463 20110826 RGD associated with Diabetes Mellitus, Type 1 620047 Il2 interleukin 2 gene DOID:2043 hepatitis B ISO RGD:730858 D RGD:14747044|PMID:25968473 20190912 RGD 620047 Il2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 620047 Il2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:14747042|PMID:29233784 20190912 RGD 620047 Il2 interleukin 2 gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:730858 D RGD:14747037|PMID:29323192 20190911 RGD 620047 Il2 interleukin 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:730858 D RGD:5147887|PMID:21714072 20110826 RGD 620047 Il2 interleukin 2 gene DOID:2355 anemia ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7678812 620047 Il2 interleukin 2 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:730858 D RGD:8693331|PMID:2574087 20140710 RGD 620047 Il2 interleukin 2 gene DOID:2508 Takayasu's arteritis susceptibility ISO RGD:730858 D RGD:8663467|PMID:17002904 20140702 RGD DNA:polymorphism::-300G>T(human) 620047 Il2 interleukin 2 gene DOID:2841 asthma ISO RGD:730858 D RGD:4889118|PMID:20926789 20101210 RGD 620047 Il2 interleukin 2 gene DOID:2841 asthma susceptibility ISO RGD:730858 D RGD:8663473|PMID:16333313 20140703 RGD DNA:SNP:promoter:rs2069762(human) 620047 Il2 interleukin 2 gene DOID:2921 glomerulonephritis ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9403216|PMID:10910440 620047 Il2 interleukin 2 gene DOID:3042 allergic contact dermatitis ISO RGD:730858 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:22245253 620047 Il2 interleukin 2 gene DOID:3068 glioblastoma ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7719933 620047 Il2 interleukin 2 gene DOID:3070 high grade glioma treatment ISO RGD:730858 D RGD:8663439|PMID:12864971 20140702 RGD 620047 Il2 interleukin 2 gene DOID:3082 interstitial lung disease ISO RGD:730858 D RGD:5144220|PMID:21257923 20110802 RGD 620047 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:8549583|PMID:16672002 20140710 RGD protein:increased expression:CD8+ T cell: 620047 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:8662961|PMID:7547077 20140630 RGD associated with food hypersensitivity; 620047 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:8693325|PMID:1673687 20140710 RGD 620047 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:733315 D RGD:8663444|PMID:21982597 20140702 RGD 620047 Il2 interleukin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:730858 D RGD:8663473|PMID:16333313 20140703 RGD DNA:SNP:promoter:rs2069762(human) 620047 Il2 interleukin 2 gene DOID:3454 brain infarction IEP D RGD:2325193|PMID:19895873 20230215 RGD protein:increased expression:brain (rat) 620047 Il2 interleukin 2 gene DOID:418 systemic scleroderma ISO RGD:730858 D RGD:8663482|PMID:2213757 20140703 RGD protein:increased expression:serum: 620047 Il2 interleukin 2 gene DOID:4450 renal cell carcinoma ISO RGD:730858 D RGD:5147871|PMID:21812652 20110825 RGD 620047 Il2 interleukin 2 gene DOID:4481 allergic rhinitis IEP D RGD:8662963|PMID:12592663 20140630 RGD 620047 Il2 interleukin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:730858 D RGD:8663473|PMID:16333313 20140703 RGD DNA:SNP:promoter:rs2069762(human) 620047 Il2 interleukin 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:733315 D RGD:14928214|PMID:29698570 20190913 RGD associated with sclerosing cholangitis 620047 Il2 interleukin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 620047 Il2 interleukin 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730858 D RGD:8662923|PMID:3263896 20140627 RGD 620047 Il2 interleukin 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730858 D RGD:8662971|PMID:2787951 20140701 RGD 620047 Il2 interleukin 2 gene DOID:612 primary immunodeficiency disease treatment ISO RGD:730858 D RGD:8693330|PMID:3048654 20140710 RGD 620047 Il2 interleukin 2 gene DOID:615 leukopenia ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7678812 620047 Il2 interleukin 2 gene DOID:627 severe combined immunodeficiency ISO RGD:730858 D RGD:1600060|PMID:2342538 20070226 RGD 620047 Il2 interleukin 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9861562 620047 Il2 interleukin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730858 D RGD:5147870|PMID:21859687 20110825 RGD protein:increased expression:mononuclear cell 620047 Il2 interleukin 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730858 D RGD:14747035|PMID:9449371 20190911 RGD 620047 Il2 interleukin 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730858 D RGD:8693323|PMID:10933975 20140710 RGD 620047 Il2 interleukin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730858 D RGD:8662948|PMID:6421522 20140630 RGD 620047 Il2 interleukin 2 gene DOID:850 lung disease ISO RGD:730858 D RGD:36947872|PMID:24292748 20200805 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: 620047 Il2 interleukin 2 gene DOID:8506 bullous pemphigoid ISO RGD:730858 D RGD:8663461|PMID:1973607 20140702 RGD 620047 Il2 interleukin 2 gene DOID:8536 herpes zoster ISO RGD:730858 D RGD:8663478|PMID:21954956 20140703 RGD protein:increased expression:: 620047 Il2 interleukin 2 gene DOID:8893 psoriasis disease_progression ISO RGD:730858 D RGD:10047079|PMID:2448994 20150708 RGD 620047 Il2 interleukin 2 gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:730858 D RGD:11528541|PMID:20626741 20160811 RGD DNA:polymorphism::-330T>G(human) 620047 Il2 interleukin 2 gene DOID:9000099 Experimental Colitis IEP D RGD:8662978|PMID:16630696 20140701 RGD 620047 Il2 interleukin 2 gene DOID:9000641 Pain ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12421473 620047 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17105418 620047 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:14747043|PMID:8642346 20190912 RGD associated with melanoma 620047 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:14865005|PMID:9362156 20190912 RGD associated with neuroblastoma. 620047 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:8663438|PMID:8610104 20140702 RGD associated with melanoma; 620047 Il2 interleukin 2 gene DOID:9000972 Fever ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 620047 Il2 interleukin 2 gene DOID:9000998 Brain Injuries ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 620047 Il2 interleukin 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730858 D RGD:10047086|PMID:19262441 20150708 RGD associated with Macular Degeneration;protein:decreased expression:aqueous humor: 620047 Il2 interleukin 2 gene DOID:9001109 Anorexia ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 620047 Il2 interleukin 2 gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:730858 D RGD:14928216|PMID:10862314 20190913 RGD 620047 Il2 interleukin 2 gene DOID:9001488 Human Influenza ISO RGD:730858 D RGD:5147905|PMID:21603856 20110826 RGD protein:increased expression:serum 620047 Il2 interleukin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 620047 Il2 interleukin 2 gene DOID:9001579 Neurogenic Inflammation IEP D RGD:8663437|PMID:16887276 20140702 RGD protein:decreased expression:dorsal root ganglion 620047 Il2 interleukin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:3495671|PMID:22306178 620047 Il2 interleukin 2 gene DOID:9002211 Hyperalgesia IEP D RGD:8662977|PMID:22189457 20140701 RGD associated with Sciatic Neuropathy; mRNA,protein:increased expression:spinal cord: 620047 Il2 interleukin 2 gene DOID:9002211 Hyperalgesia IMP D RGD:8662973|PMID:12755376 20140701 RGD 620047 Il2 interleukin 2 gene DOID:9002211 Hyperalgesia treatment IDA D RGD:8662980|PMID:18423867 20140701 RGD 620047 Il2 interleukin 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17105418|PMID:18298334|PMID:18625569|PMID:19409039 620047 Il2 interleukin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17115417 620047 Il2 interleukin 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:730858 D RGD:5687147|PMID:22035391 20150708 RGD protein:increased expression:synovial fluid: 620047 Il2 interleukin 2 gene DOID:9002362 Hyperkinesis ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 620047 Il2 interleukin 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:8662976|PMID:19169271 20140701 RGD protein:increased expression:serum: 620047 Il2 interleukin 2 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:10047055|PMID:2492102 20150707 RGD 620047 Il2 interleukin 2 gene DOID:9003000 Asthenia ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 620047 Il2 interleukin 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730858 D RGD:8693327|PMID:1666936 20140710 RGD 620047 Il2 interleukin 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14654953 620047 Il2 interleukin 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730858 D RGD:8662959|PMID:17608155 20140630 RGD protein:decreased expression:serum: 620047 Il2 interleukin 2 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:733315 D RGD:8663451|PMID:9399664 20140702 RGD 620047 Il2 interleukin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730858 D RGD:14807336|PMID:12673448 20190912 RGD 620047 Il2 interleukin 2 gene DOID:9004118 Experimental Melanoma ISO RGD:730858 D RGD:8662950|PMID:11884028 20140630 RGD 620047 Il2 interleukin 2 gene DOID:9004283 Transplant Rejection ISO RGD:733315 D RGD:10047078|PMID:18089405 20150708 RGD 620047 Il2 interleukin 2 gene DOID:9004283 Transplant Rejection ISO RGD:733315 D RGD:7364833|PMID:22564629 20140627 RGD 620047 Il2 interleukin 2 gene DOID:9004283 Transplant Rejection treatment IMP D RGD:8662936|PMID:3291556 20140627 RGD 620047 Il2 interleukin 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:730858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 620047 Il2 interleukin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730858 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620047 Il2 interleukin 2 gene DOID:9004610 Acute Lung Injury IEP D RGD:6480432|PMID:21767135 20110825 RGD protein:increased expression:respiratory system fluid/secretion 620047 Il2 interleukin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7614408|PMID:18298334|PMID:18625569 620047 Il2 interleukin 2 gene DOID:9005181 Multi-Infarct Dementia severity ISO RGD:730858 D RGD:10047081|PMID:8586980 20150708 RGD protein:increased secretion:mononuclear cell: 620047 Il2 interleukin 2 gene DOID:9005236 Drug Eruptions ISO RGD:730858 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 620047 Il2 interleukin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5147915|PMID:20213480 20110829 RGD protein:increased expression:retina 620047 Il2 interleukin 2 gene DOID:9006024 Hypotension ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 620047 Il2 interleukin 2 gene DOID:9006618 Liver Metastasis ISO RGD:730858 D RGD:14928215|PMID:9354462 20190913 RGD associated with colon carcinoma 620047 Il2 interleukin 2 gene DOID:9006618 Liver Metastasis treatment ISO RGD:730858 D RGD:8663446|PMID:11591892 20140702 RGD associated with Colorectal Neoplasms, Carcinoma, Hepatocellular; 620047 Il2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:730858 D RGD:8662951|PMID:7929845 20140630 RGD 620047 Il2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression IEP D RGD:8662946|PMID:7803357 20160817 RGD mRNA:increased expression:uvea: 620047 Il2 interleukin 2 gene DOID:9006698 Vaginal Neoplasms ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15577323 620047 Il2 interleukin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:730858 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:18298334 620047 Il2 interleukin 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6319491 620047 Il2 interleukin 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:730858 D RGD:14747034|PMID:19105930 20190911 RGD DNA:polymorphism:promoter:-385T>G(human) 620047 Il2 interleukin 2 gene DOID:9008763 Femoral Fractures IEP D RGD:5131471|PMID:21442011 20110829 RGD protein:increased expression:serum 620047 Il2 interleukin 2 gene DOID:9008865 Entamoebiasis ISO RGD:730858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 620047 Il2 interleukin 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:733315 D RGD:5147906|PMID:21603642 20110826 RGD 620047 Il2 interleukin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 620047 Il2 interleukin 2 gene DOID:905 Zellweger syndrome ISO RGD:730858 D RGD:14747040|PMID:21888010 20190912 RGD 620047 Il2 interleukin 2 gene DOID:9065 leishmaniasis ISO RGD:733315 D RGD:8693326|PMID:6224858 20140710 RGD 620047 Il2 interleukin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730858 D RGD:8662948|PMID:6421522 20140630 RGD 620047 Il2 interleukin 2 gene DOID:9182 pemphigus ISO RGD:730858 D RGD:8693324|PMID:6432916 20140710 RGD 620047 Il2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733315 D RGD:2313574|PMID:17670937 20091002 RGD 620047 Il2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:730858 D RGD:10047089|PMID:3514237 20150708 RGD 620047 Il2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:730858 D RGD:8663449|PMID:3261574 20140702 RGD 620047 Il2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:733315 D RGD:8663450|PMID:16297194 20140702 RGD 620048 Sphk1 sphingosine kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 620048 Sphk1 sphingosine kinase 1 gene DOID:1240 leukemia ISO RGD:1346404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 620048 Sphk1 sphingosine kinase 1 gene DOID:299 adenocarcinoma IEP D RGD:2311380|PMID:16319132 20090709 RGD protein, mRNA:increased expression:colon mucosa (rat) 620048 Sphk1 sphingosine kinase 1 gene DOID:3070 high grade glioma IEP D RGD:2311379|PMID:17316399 20090709 RGD protein:increased expression:endothelial cell (rat) 620048 Sphk1 sphingosine kinase 1 gene DOID:630 genetic disease ISO RGD:1346404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620048 Sphk1 sphingosine kinase 1 gene DOID:8577 ulcerative colitis ISO RGD:1346404 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 620048 Sphk1 sphingosine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:1346404 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19657322 620048 Sphk1 sphingosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346404 D RGD:2311390|PMID:17265031 20090710 RGD 620049 Il9 interleukin 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620049 Il9 interleukin 9 gene DOID:0080600 COVID-19 severity ISO RGD:735276 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 620049 Il9 interleukin 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735276 D RGD:5128683|PMID:21062445 20110315 RGD associated with Influenza;protein:increased expression:serum 620049 Il9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1620109 D RGD:5128685|PMID:19915054 20110315 RGD 620049 Il9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735276 D RGD:5128684|PMID:20503287 20110315 RGD DNA:SNPs: :rs2069885, rs1799962 (human) 620049 Il9 interleukin 9 gene DOID:1485 cystic fibrosis ISO RGD:735276 D RGD:5128699|PMID:12782818 20110315 RGD protein:increased expression:respiratory system mucosa 620049 Il9 interleukin 9 gene DOID:2048 autoimmune hepatitis ISO RGD:735276 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 620049 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:5128686|PMID:17446528 20110315 RGD 620049 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:5128690|PMID:15531759 20110315 RGD protein:increased expression:respiratory system fluid/secretion 620049 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:5128700|PMID:12153980 20110315 RGD 620049 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:5128691|PMID:15303135 20110315 RGD protein:increased expression:sputum, macrophage, cytoplasm 620049 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:5128707|PMID:21356110 20110315 RGD 620049 Il9 interleukin 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735276 D RGD:5128691|PMID:15303135 20110315 RGD protein:increased expression:sputum, macrophage, cytoplasm 620049 Il9 interleukin 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1620109 D RGD:5128702|PMID:11306428 20110315 RGD associated with Silicosis 620049 Il9 interleukin 9 gene DOID:4483 rhinitis ISO RGD:735276 D RGD:5128687|PMID:20525149 20110315 RGD 620049 Il9 interleukin 9 gene DOID:630 genetic disease ISO RGD:735276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620049 Il9 interleukin 9 gene DOID:850 lung disease ISO RGD:1620109 D RGD:5128689|PMID:15632004 20110315 RGD Lung Injury 620049 Il9 interleukin 9 gene DOID:9001472 Nasal Polyps ISO RGD:735276 D RGD:5128694|PMID:15007348 20110315 RGD associated with Bronchial Hyperreactivity 620049 Il9 interleukin 9 gene DOID:9002221 Hyperplasia ISO RGD:735276 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 620049 Il9 interleukin 9 gene DOID:9003281 Spontaneous Abortions ISO RGD:735276 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620049 Il9 interleukin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735276 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620049 Il9 interleukin 9 gene DOID:9005700 Airway Obstruction ISO RGD:735276 D RGD:5128696|PMID:14605067 20110315 RGD associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell 620049 Il9 interleukin 9 gene DOID:9006928 Viral Bronchiolitis ISO RGD:735276 D RGD:5128692|PMID:15051283 20110315 RGD 620049 Il9 interleukin 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62005 Tmeff1 transmembrane protein with EGF-like and two follistatin-like domains 1 gene DOID:1059 intellectual disability ISO RGD:735335 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62005 Tmeff1 transmembrane protein with EGF-like and two follistatin-like domains 1 gene DOID:630 genetic disease ISO RGD:735335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620050 Dedd death effector domain-containing gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 620050 Dedd death effector domain-containing gene DOID:1540 parathyroid carcinoma ISO RGD:731723 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620050 Dedd death effector domain-containing gene DOID:630 genetic disease ISO RGD:731723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620050 Dedd death effector domain-containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731723 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:11054 urinary bladder cancer ISO RGD:736098 D RGD:14696811|PMID:26929985 20190729 RGD DNA:hypermethylation:promoter 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:4450 renal cell carcinoma ISO RGD:736098 D RGD:14696812|PMID:21132003 20190729 RGD DNA:hypermethylation:promoter 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736098 D RGD:14696810|PMID:28672194 20190729 RGD 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:630 genetic disease ISO RGD:736098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:9000740 ST Elevation Myocardial Infarction severity ISO RGD:736098 D RGD:14696800|PMID:27441480 20190726 RGD 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736098 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620051 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:9970 obesity ISO RGD:731824 D RGD:11535661|PMID:26709097 20190729 RGD 620052 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:0080600 COVID-19 ISO RGD:734314 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620052 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734314 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 620052 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:630 genetic disease ISO RGD:734314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620052 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:9000491 DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA ISO RGD:734314 D RGD:7240710 20220112 OMIM 620052 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:9000491 DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA ISO RGD:734314 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia PMID:19006192|PMID:34636445 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1353386 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1353386 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1353386 D RGD:5685005|PMID:16051700 20120106 RGD DNA:mutation:cds: p.T1482I (human) 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1353386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868|PMID:28492532 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 no_association ISO RGD:1353386 D RGD:5685008|PMID:19405049 20120106 RGD DNA:mutation:cds: p.T1482I (human) 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 susceptibility ISO RGD:1353386 D RGD:7240710 20190502 OMIM 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:2717 Bloom syndrome ISO RGD:1353386 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:2914 immune system disease ISO RGD:1353386 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353386 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to PMID:16051700|PMID:19405049|PMID:25741868 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:5082 liver cirrhosis ISO RGD:1353386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25150141 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:630 genetic disease ISO RGD:1353386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:657 adenoma ISO RGD:1353386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1353386 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:16051700|PMID:19405049|PMID:25741868 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9002315 Kidney Calculi ISO RGD:1353386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9004009 Reperfusion Injury IEP D RGD:5684390|PMID:18395621 20120106 RGD mRNA,protein:increased expression:hippocampus 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9004271 Colonic Polyps ISO RGD:1353386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353386 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30710498 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9005246 Paralysis ISO RGD:1353386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9006030 Infant Death ISO RGD:1353386 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353386 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 620053 Trpm7 transient receptor potential cation channel, subfamily M, member 7 gene DOID:9256 colorectal cancer ISO RGD:1353386 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620054 Ppfia3 PTPRF interacting protein alpha 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 620054 Ppfia3 PTPRF interacting protein alpha 3 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1312318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 620054 Ppfia3 PTPRF interacting protein alpha 3 gene DOID:630 genetic disease ISO RGD:1312318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620055 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:0060224 atrial fibrillation ISO RGD:737078 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 620055 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620055 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:737078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620055 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:630 genetic disease ISO RGD:737078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620055 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620055 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737078 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620056 Septin2 septin 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 620056 Septin2 septin 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 620056 Septin2 septin 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 620056 Septin2 septin 2 gene DOID:1059 intellectual disability ISO RGD:1342947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620056 Septin2 septin 2 gene DOID:14749 methylmalonic acidemia ISO RGD:1342947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 620056 Septin2 septin 2 gene DOID:630 genetic disease ISO RGD:1342947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620056 Septin2 septin 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:732179 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:15181170|PMID:15351195|PMID:16401742|PMID:19578034|PMID:19752458|PMID:21880868|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:30255931|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050700 cardiomyopathy ISO RGD:732179 D RGD:8694182|PMID:17310215 20140728 RGD 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050753 cerebellar ataxia ISO RGD:732179 D RGD:8694192|PMID:20803511 20140728 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary progressive multiple sclerosis PMID:16401742|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28480171|PMID:28492532|PMID:32504279 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050908 myelodysplastic syndrome ISS RGD:732180 D RGD:13592920 20180518 MouseDO OMIM:614286 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome PMID:16545482|PMID:17538929|PMID:18716558|PMID:19195941|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:24642831|PMID:25741868|PMID:26467025|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0060898 Parkinson's disease 20 ISO RGD:732179 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:18414213|PMID:21357833|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28337550|PMID:28492532|PMID:28776642 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16401742|PMID:18487244|PMID:21301859|PMID:21880868|PMID:22000311|PMID:22114710|PMID:22357363|PMID:24033266|PMID:24508722|PMID:24642831|PMID:25203713|PMID:25741868|PMID:26077851|PMID:26095671|PMID:26467025|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28337550|PMID:28480171|PMID:28492532|PMID:30609409|PMID:32504279|PMID:33671400 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:732179 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:17923349|PMID:18716558|PMID:20138553 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:7240710 20181219 OMIM 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27381400|PMID:27422324|PMID:27450679 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30818899|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:31996268|PMID:32019516|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32502631|PMID:32600829|PMID:32703289|PMID:33258288|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9500334|PMID:9536098 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:26968897|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8694184|PMID:15689359 20140728 RGD DNA:mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8694284|PMID:22237560 20140730 RGD DNA:missense mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8694317|PMID:16896309 20140731 RGD DNA:missense mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility IAGP D RGD:15039298|PMID:20142534 20191127 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:7240710 20130221 OMIM 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32005694|PMID:32042919|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32567010|PMID:33233646|PMID:33396418 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:732179 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:25741868 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29474836|PMID:29482223|PMID:29588995|PMID:30255931|PMID:30290626|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080855 Parkinsonism ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:18414213|PMID:22778927|PMID:23524600|PMID:25741868|PMID:26467025|PMID:27987238|PMID:28492532|PMID:28678401 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:7240710 20130221 OMIM 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32567010|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8694282|PMID:18585914 20140730 RGD DNA:missense mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8694285|PMID:22616202 20140730 RGD DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20130221 OMIM 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17420318|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31571979 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20191127 OMIM 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22189570|PMID:22334187|PMID:22342071|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25914719|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31762033|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33486010 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22084276|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28480171|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31085725|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:32445240|PMID:32504279|PMID:32964447|PMID:33233646|PMID:33486010 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:10787 premature menopause ISO RGD:732179 D RGD:8694175|PMID:15351195 20140728 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:10907 microcephaly ISO RGD:732179 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:11832 visual epilepsy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30255931|PMID:30373890|PMID:30404819|PMID:30637288|PMID:30843307|PMID:30951992|PMID:31571979|PMID:31655921|PMID:31658717|PMID:31669236|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12336 male infertility ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:737726|PMID:11431686 19990101 RGD DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:8694163|PMID:12975295 20140728 RGD DNA:mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:8694170|PMID:12565911 20140728 RGD DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:8694183|PMID:16401742 20140728 RGD DNA:mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:8694204|PMID:17420318 20140729 RGD DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Autism PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33600046 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:13636 Fanconi anemia ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22720145|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1389 polyneuropathy ISO RGD:732179 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Polyneuropathy 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:14264 benign neonatal seizures ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:14635118|PMID:16919951|PMID:20185557|PMID:21357833|PMID:21550804|PMID:21880868|PMID:25741868|PMID:28471437|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:8694175|PMID:15351195 20140728 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:8694203|PMID:23865558 20140729 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease onset ISO RGD:732179 D RGD:8694201|PMID:16634032 20140729 RGD DNA:missense mutations:exons:p.R853W,p.G737R(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1824 status epilepticus IEP D RGD:2317139|PMID:18295498 20140724 RGD 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18716558 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure Disorders | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:35307828|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:34008892|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:30255931|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33600046 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8694298|PMID:18238797 20140730 RGD DNA:missense mutations:cds:p.A467T,p.W748S(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:2377 multiple sclerosis ISO RGD:732179 D RGD:8694283|PMID:20837861 20140730 RGD DNA:missense mutations:cds: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:2717 Bloom syndrome ISO RGD:732179 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:3312 bipolar disorder ISS RGD:732180 D RGD:13592920 20190221 MouseDO 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISO RGD:732180 D RGD:8694301|PMID:16619054 20140730 RGD 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISS RGD:732180 D RGD:13592920 20190221 MouseDO 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:3687 MELAS syndrome ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25741868|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:5426 primary ovarian insufficiency ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:14635118|PMID:25741868|PMID:27987238 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:5426 primary ovarian insufficiency ISO RGD:732179 D RGD:8694202|PMID:16595552 20140729 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:missense mutation:cds:p.Y955C(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17576681|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30831263|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33671400|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility IAGP D RGD:15039387|PMID:28457473 20191204 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18716558 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17576681|PMID:17725985|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23836942|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24398692|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28430993|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30678510|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32161153|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370|PMID:9536098 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:8725 vascular dementia ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25850945|PMID:26467025|PMID:28492532|PMID:35307828 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:890 mitochondrial encephalomyopathy ISO RGD:732179 D RGD:8694177|PMID:12825077 20140728 RGD DNA:mutations:cds:p.N846S, p.P587L(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9000307 Presbycusis ISO RGD:732180 D RGD:8694161|PMID:21664445 20140728 RGD 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:17436221|PMID:18546365|PMID:19364868|PMID:19762913|PMID:19887119|PMID:20176107|PMID:21880868|PMID:24091540|PMID:25462018|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28958595|PMID:29992832|PMID:30951992|PMID:31655921|PMID:31665838|PMID:32348839|PMID:32502631|PMID:34690748 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9002375 Childhood Myocerebrohepatopathy Spectrum ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum PMID:12707443|PMID:16621917|PMID:18487244|PMID:18546365|PMID:19752458|PMID:20185557|PMID:21305355|PMID:21880868|PMID:22189570|PMID:23208208|PMID:24265579|PMID:25741868|PMID:27111573|PMID:28471437|PMID:28492532|PMID:30021052|PMID:30167885 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:732180 D RGD:8694320|PMID:15164064 20140731 RGD 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30936349|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9004493 Camptocormia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:16621917|PMID:17452231|PMID:18546365|PMID:19189930|PMID:19578034|PMID:19752458|PMID:19815814|PMID:20227526|PMID:20301791|PMID:20803511|PMID:21856450|PMID:21880868|PMID:22647225|PMID:22727047|PMID:23808377|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27271921|PMID:28130605|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9004866 Ataxia ISO RGD:732179 D RGD:8694191|PMID:15824347 20140728 RGD DNA:missense mutations:cds:p.A467T,p.Q497H,p.W748S(human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:16545482|PMID:17538929|PMID:18716558|PMID:19195941|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:24642831|PMID:25741868|PMID:26467025|PMID:28492532 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:8694093|PMID:22743328 20140724 RGD DNA:hypermethylation:promoter: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8694093|PMID:22743328 20140724 RGD mRNA,protein:decreased expression:retina,mitochondrion: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732180 D RGD:8694187|PMID:22229649 20140728 RGD mRNA,protein:decreased expression:retina,mitochondrion: 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:732179 D RGD:11554173 20191203 CTD CTD Direct Evidence: marker/mechanism 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12210792|PMID:12872260|PMID:15349879|PMID:15689359|PMID:15929042|PMID:16177225|PMID:17426723|PMID:17980715|PMID:18500570|PMID:18828154|PMID:19307547|PMID:19478085|PMID:20301791|PMID:20513108|PMID:20818383|PMID:21228000|PMID:21670405|PMID:21880868|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:23448099|PMID:24272679|PMID:25585994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34782754 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9006476 Spinocerebellar Ataxia with Epilepsy ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy PMID:11431686|PMID:11571332|PMID:12565911|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31475037|PMID:31589614|PMID:31980526|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34782754|PMID:632821 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9006534 Nervous System Malformations ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20185557|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21305355|PMID:21880868|PMID:22189570|PMID:22616202|PMID:23208208|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27111573|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30021052|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007096 Stroke ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:34008892|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18208989|PMID:20138553 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association IAGP D RGD:15039297|PMID:30255931 20191127 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility IAGP D RGD:15039302|PMID:25065347 20191127 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:32019516|PMID:33396418|PMID:34008892|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:732179 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9009021 Plagiocephaly ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:21550804|PMID:21880868|PMID:25741868|PMID:28492532|PMID:30755392 620057 Polg DNA polymerase gamma, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:732179 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620058 Polk DNA polymerase kappa gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 PMID:25741868 620058 Polk DNA polymerase kappa gene DOID:10283 prostate cancer ISO RGD:1343998 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:26046662 620058 Polk DNA polymerase kappa gene DOID:1059 intellectual disability ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620058 Polk DNA polymerase kappa gene DOID:10907 microcephaly ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620058 Polk DNA polymerase kappa gene DOID:1826 epilepsy ISO RGD:1343998 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26046662 620058 Polk DNA polymerase kappa gene DOID:3068 glioblastoma ISO RGD:1343998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 620058 Polk DNA polymerase kappa gene DOID:3323 Sandhoff disease ISO RGD:1343998 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 620058 Polk DNA polymerase kappa gene DOID:630 genetic disease ISO RGD:1343998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620058 Polk DNA polymerase kappa gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343998 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:26046662 620058 Polk DNA polymerase kappa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343998 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620058 Polk DNA polymerase kappa gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:1059 intellectual disability ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735684 D RGD:13524567|PMID:19656261 20180423 RGD protein:increased expression:spinal chord 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:630 genetic disease ISO RGD:735683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:6432 pulmonary hypertension ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:9000304 Manganese Poisoning ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22465424 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:9004994 Embryo Loss ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:9005749 Necrosis ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19144690 620059 Slc31a1 solute carrier family 31 member 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735683 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354451 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1354451 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:7240710 20190424 OMIM 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:17576681|PMID:18414213|PMID:24088041|PMID:25125236|PMID:25574841|PMID:25655089|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26633542|PMID:26633545|PMID:28492532|PMID:30158690|PMID:31334757|PMID:9536098 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:1059 intellectual disability ISO RGD:1354451 D RGD:155882445|PMID:25655089 20230118 RGD associated with Cornelia de Lange syndrome; DNA:missense mutations, deletions:exons: 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:1059 intellectual disability ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633542|PMID:28492532 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1354451 D RGD:11554173 20190430 CTD CTD Direct Evidence: marker/mechanism 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1354451 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:28492532 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:630 genetic disease ISO RGD:1354451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:21139566|PMID:25125236|PMID:25655089|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28286005|PMID:28492532|PMID:28607419 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354451 D RGD:156430111|PMID:29996118 20230221 RGD mRNA:increased editing:cds:p.K96R,p.Q103R(human) 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:8692 myeloid leukemia ISO RGD:1354451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354451 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 62006 Smc3 structural maintenance of chromosomes 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354451 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 620060 Hpca hippocalcin gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735421 D RGD:9693683|PMID:22696308 20150210 RGD mRNA, protein:increased expression:colon carcinoma (human) 620060 Hpca hippocalcin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:735422 D RGD:9693682|PMID:7882001 20150210 RGD protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) 620060 Hpca hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:7240710 20150702 OMIM 620060 Hpca hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Torsion dystonia 2 PMID:14694054|PMID:25799108|PMID:28492532|PMID:6115727 620060 Hpca hippocalcin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735421 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620060 Hpca hippocalcin gene DOID:12858 Huntington's disease ISO RGD:735421 D RGD:9693681|PMID:19686238 20150210 RGD mRNA:decreased expression:brain (human) 620060 Hpca hippocalcin gene DOID:630 genetic disease ISO RGD:735421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620061 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:732975 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620061 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:732975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620061 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:732975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 620061 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 620062 Pon1 paraoxonase 1 gene DOID:0014667 disease of metabolism ISO RGD:1349272 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 620062 Pon1 paraoxonase 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1349272 D RGD:11553830|PMID:22568797 20161013 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:0060058 lymphoma ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 620062 Pon1 paraoxonase 1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1349272 D RGD:11553822|PMID:12139735 20161013 RGD DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17204329 620062 Pon1 paraoxonase 1 gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1349272 D RGD:11552573|PMID:26122242 20161011 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:0080001 bone disease ISO RGD:1349272 D RGD:11552587|PMID:25322877 20161011 RGD associated with Multiple Myeloma;protein:increased expression:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:0080016 spina bifida ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21031563 620062 Pon1 paraoxonase 1 gene DOID:0080771 beta-thalassemia major ISO RGD:1349272 D RGD:11553831|PMID:17617032 20161013 RGD protein:decreased activity:plasma (human) 620062 Pon1 paraoxonase 1 gene DOID:10126 keratoconus ISO RGD:1349272 D RGD:8547774|PMID:23441349 20140221 RGD protein:decreased activity:plasma (human) 620062 Pon1 paraoxonase 1 gene DOID:10126 keratoconus severity ISO RGD:1349272 D RGD:8547559|PMID:24148525 20140218 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:10283 prostate cancer ISO RGD:1349272 D RGD:8547662|PMID:23768700 20140219 RGD protein:increased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1349272 D RGD:11073982|PMID:26254371 20161011 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:10603 glucose intolerance ISO RGD:1349272 D RGD:1642628|PMID:11889198 20071004 RGD 620062 Pon1 paraoxonase 1 gene DOID:10608 celiac disease ISO RGD:1349272 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:duodenum (human) 620062 Pon1 paraoxonase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349272 D RGD:5509926|PMID:16319130 20111111 RGD DNA:polymorphisms:multiple SNPs (human) 620062 Pon1 paraoxonase 1 gene DOID:1067 open-angle glaucoma ISO RGD:1349272 D RGD:8547552|PMID:16411107 20140217 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1349272 D RGD:8547563|PMID:22553514 20140218 RGD DNA:snp:cds:p.Q192R (rs662) (human) 620062 Pon1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1349272 D RGD:8547556|PMID:19155603 20140218 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:1349272 D RGD:8547668|PMID:20042177 20140219 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:10923 sickle cell anemia ISO RGD:1349272 D RGD:11553835|PMID:24508012 20161013 RGD protein:decreased activity: serum (human) 620062 Pon1 paraoxonase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349272 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 620062 Pon1 paraoxonase 1 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:1349272 D RGD:11552576|PMID:19967651 20161011 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:114 heart disease ISO RGD:1349272 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 620062 Pon1 paraoxonase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1349272 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620062 Pon1 paraoxonase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1349272 D RGD:2313270|PMID:17949258 20090915 RGD associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1349272 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 5 PMID:11335891|PMID:11788650|PMID:11889198|PMID:11918623|PMID:9011577|PMID:9661650 620062 Pon1 paraoxonase 1 gene DOID:11758 iron deficiency anemia ISO RGD:1349272 D RGD:11552586|PMID:16684543 20161011 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:1349272 D RGD:11553834|PMID:26926576 20161013 RGD 620062 Pon1 paraoxonase 1 gene DOID:11840 coronary artery vasospasm ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11810302 620062 Pon1 paraoxonase 1 gene DOID:12241 beta thalassemia ISO RGD:1349272 D RGD:11552583|PMID:26608512 20161011 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:12336 male infertility ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21561808|PMID:22206979 620062 Pon1 paraoxonase 1 gene DOID:12849 autistic disorder ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16027737|PMID:16297937|PMID:22490277 620062 Pon1 paraoxonase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15169886|PMID:19152805 620062 Pon1 paraoxonase 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1349272 D RGD:8547550|PMID:20497955 20140217 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:1307 dementia susceptibility ISO RGD:1349272 D RGD:1358562|PMID:15016430 19990101 RGD DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) 620062 Pon1 paraoxonase 1 gene DOID:13241 Behcet's disease ISO RGD:1349272 D RGD:8547573|PMID:15377545 20140218 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:13548 secondary Parkinson disease ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 620062 Pon1 paraoxonase 1 gene DOID:13580 cholestasis ISO RGD:1349272 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 620062 Pon1 paraoxonase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1349272 D RGD:8547685|PMID:19628957 20140219 RGD protein:decreased expression:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:14400 capillary leak syndrome susceptibility ISO RGD:1349272 D RGD:11553829|PMID:24808988 20161013 RGD DNA:snp:intron:c.75-1136G>A (rs3917490) (human) 620062 Pon1 paraoxonase 1 gene DOID:1596 depressive disorder ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 620062 Pon1 paraoxonase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1349272 D RGD:8661246|PMID:17428620 20140610 RGD DNA:polymorphism: :p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:1727 retinal vein occlusion ISO RGD:1349272 D RGD:8547555|PMID:18084236 20140218 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1349272 D RGD:8547547|PMID:23441121 20140217 RGD DNA:missense mutation:cds:p.L55M (human) 620062 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16216721|PMID:16229851|PMID:16331452|PMID:19371607|PMID:21629682|PMID:26241956 620062 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:5509927|PMID:20182519 20111111 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective 620062 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1349272 D RGD:11552582|PMID:21427447 20161011 RGD associated with Beta-Thalassemia;protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis treatment ISO RGD:733240 D RGD:8547562|PMID:16043712 20140218 RGD 620062 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis treatment ISO RGD:733240 D RGD:8547574|PMID:20660283 20140218 RGD 620062 Pon1 paraoxonase 1 gene DOID:2349 arteriosclerosis ISO RGD:1349272 D RGD:2313273|PMID:16627808 20090915 RGD associated with Metabolic Syndrome X 620062 Pon1 paraoxonase 1 gene DOID:2355 anemia severity ISO RGD:1349272 D RGD:11552571|PMID:18423402 20161011 RGD associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:2355 anemia treatment ISO RGD:1349272 D RGD:11552579|PMID:17324148 20161011 RGD associated with Renal Insufficiency, Chronic 620062 Pon1 paraoxonase 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16175651 620062 Pon1 paraoxonase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349272 D RGD:8547571|PMID:16380766 20140218 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349272 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28070599 620062 Pon1 paraoxonase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349272 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 620062 Pon1 paraoxonase 1 gene DOID:3388 periodontal disease ISO RGD:1349272 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 620062 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8675673|PMID:9215303|PMID:21629682 620062 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:1580203|PMID:11917194 19990101 RGD 620062 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:8547681|PMID:15785307 20140219 RGD protein:increased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to PMID:11238489|PMID:11810302|PMID:11888590|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9215303|PMID:9385372|PMID:9443884 620062 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1349272 D RGD:1580196|PMID:10729395 19990101 RGD DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349272 D RGD:1580196|PMID:10729395 19990101 RGD DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21329748 620062 Pon1 paraoxonase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:1349272 D RGD:8547670|PMID:23267397 20140219 RGD associated with Diabetes Mellitus, Type 2 620062 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration ISO RGD:1349272 D RGD:8547561|PMID:23432778 20140218 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:8547582|PMID:15488805 20140218 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:8547659|PMID:15774926 20140219 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human) 620062 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:8547549|PMID:23538572 20140217 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:8547551|PMID:22956172 20140217 RGD DNA:snps:promoter, 5' utr:multiple (human) 620062 Pon1 paraoxonase 1 gene DOID:4481 allergic rhinitis severity ISO RGD:1349272 D RGD:8547583|PMID:23406590 20140218 RGD protein:decreased activity:plasma (human) 620062 Pon1 paraoxonase 1 gene DOID:4491 persian gulf syndrome ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10373407 620062 Pon1 paraoxonase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349272 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620062 Pon1 paraoxonase 1 gene DOID:576 proteinuria ISO RGD:1349272 D RGD:8547663|PMID:9591753 20140219 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:5844 myocardial infarction ISO RGD:1349272 D RGD:1580198|PMID:10610741 19990101 RGD 620062 Pon1 paraoxonase 1 gene DOID:5844 myocardial infarction ISO RGD:1349272 D RGD:1580202|PMID:10978258 19990101 RGD 620062 Pon1 paraoxonase 1 gene DOID:6000 congestive heart failure ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 620062 Pon1 paraoxonase 1 gene DOID:630 genetic disease ISO RGD:1349272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620062 Pon1 paraoxonase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349272 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:decreased expression:liver (human) 620062 Pon1 paraoxonase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16055108 620062 Pon1 paraoxonase 1 gene DOID:7998 hyperthyroidism ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14678291 620062 Pon1 paraoxonase 1 gene DOID:83 cataract ISO RGD:1349272 D RGD:8547553|PMID:19439227 20140217 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) 620062 Pon1 paraoxonase 1 gene DOID:8577 ulcerative colitis ISO RGD:1349272 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:colon (human) 620062 Pon1 paraoxonase 1 gene DOID:8778 Crohn's disease ISO RGD:1349272 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:terminal ileum (human) 620062 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9661650|PMID:20012460 620062 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:8547537|PMID:20012460 20140217 RGD associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:2313272|PMID:16949520 20090915 RGD DNA:polymorphism:promoter:g.-907C>G (human) 620062 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:8547548|PMID:15270786 20140217 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:8547572|PMID:24100645 20140218 RGD associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human) 620062 Pon1 paraoxonase 1 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:8547682|PMID:12897486 20140219 RGD 620062 Pon1 paraoxonase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349272 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 620062 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16353344|PMID:16882531 620062 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease ISO RGD:1349272 D RGD:1580201|PMID:9215303 19990101 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:11238489|PMID:11335891|PMID:11788650|PMID:11810302|PMID:11888590|PMID:11889198|PMID:11918623|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9011577|PMID:9215303|PMID:9385372|PMID:9443884|PMID:9661650 620062 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:1349272 D RGD:8547675|PMID:15214960 20140219 RGD DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease severity ISO RGD:1349272 D RGD:2313267|PMID:19005291 20090915 RGD protein:decreased expression:serum 620062 Pon1 paraoxonase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16229851 620062 Pon1 paraoxonase 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1349272 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25463530|PMID:28396702 620062 Pon1 paraoxonase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1349272 D RGD:8547666|PMID:23238704 20140219 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:9001542 Albuminuria ISO RGD:1349272 D RGD:2313272|PMID:16949520 20090915 RGD DNA:polymorphisms:promoter, cds (human) 620062 Pon1 paraoxonase 1 gene DOID:9001581 Constipation ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 620062 Pon1 paraoxonase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26241956 620062 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26884296 620062 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:2313266|PMID:19207863 20090915 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 620062 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1349272 D RGD:8547572|PMID:24100645 20140218 RGD associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) 620062 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1349272 D RGD:8547548|PMID:15270786 20140217 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12783936|PMID:15538743|PMID:21716162 620062 Pon1 paraoxonase 1 gene DOID:9002564 Arteritis ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 620062 Pon1 paraoxonase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1349272 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 620062 Pon1 paraoxonase 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 620062 Pon1 paraoxonase 1 gene DOID:9003996 Birth Weight ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17237730 620062 Pon1 paraoxonase 1 gene DOID:9004968 Yin Deficiency IEP D RGD:153350089|PMID:27843478 20220907 RGD protein:decreased expression:serum 620062 Pon1 paraoxonase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16323636 620062 Pon1 paraoxonase 1 gene DOID:9005292 Organophosphate Poisoning ISO RGD:1349272 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11022865|PMID:20581384|PMID:20981111|PMID:23123254|PMID:24326413|PMID:26340881|PMID:28070599 620062 Pon1 paraoxonase 1 gene DOID:9005463 Occupational Diseases ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 620062 Pon1 paraoxonase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523|PMID:16238680 620062 Pon1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1349272 D RGD:2313268|PMID:18358245 20090915 RGD 620062 Pon1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733240 D RGD:2313268|PMID:18358245 20090915 RGD 620062 Pon1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 620062 Pon1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:1349272 D RGD:11552572|PMID:22800774 20161011 RGD DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9006538 Agricultural Workers' Diseases ISO RGD:1349272 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:15982977|PMID:18430447 620062 Pon1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21573798 620062 Pon1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:1642618|PMID:14602783 20071003 RGD 620062 Pon1 paraoxonase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1349272 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:26839999 620062 Pon1 paraoxonase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 620062 Pon1 paraoxonase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 620062 Pon1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias IDA D RGD:731237|PMID:11015468 19990101 RGD 620062 Pon1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15324535 620062 Pon1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias treatment ISO RGD:1349272 D RGD:8547684|PMID:15324535 20140219 RGD 620062 Pon1 paraoxonase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349272 D RGD:1642617|PMID:11788650 20071003 RGD DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) 620062 Pon1 paraoxonase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349272 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 620062 Pon1 paraoxonase 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17292331|PMID:19028542 620062 Pon1 paraoxonase 1 gene DOID:9351 diabetes mellitus ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16229851|PMID:19022366 620062 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:2307252|PMID:19328014 20090915 RGD protein:increased expression:serum 620062 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:2313269|PMID:18290860 20090915 RGD DNA:polymorphism: :p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:2313270|PMID:17949258 20090915 RGD protein:decreased expression:serum 620062 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349272 D RGD:8547663|PMID:9591753 20140219 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:1349272 D RGD:8547560|PMID:10677395 20140218 RGD associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9452 fatty liver disease ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26945512 620062 Pon1 paraoxonase 1 gene DOID:9538 multiple myeloma severity ISO RGD:1349272 D RGD:11552578|PMID:25520116 20161011 RGD protein:decreased activity:serum (human) 620062 Pon1 paraoxonase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1349272 D RGD:10450846|PMID:15136237 20161013 RGD DNA:missense mutation:cds:p.Q192R (human) 620062 Pon1 paraoxonase 1 gene DOID:9538 multiple myeloma treatment ISO RGD:1349272 D RGD:11040544|PMID:22348216 20161011 RGD 620062 Pon1 paraoxonase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349272 D RGD:2313270|PMID:17949258 20090915 RGD protein:decreased expression:serum 620062 Pon1 paraoxonase 1 gene DOID:9746 hemorrhoid ISO RGD:1349272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 620062 Pon1 paraoxonase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1349272 D RGD:11552580|PMID:22976839 20161011 RGD DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) 620063 Ilk integrin-linked kinase gene DOID:0050700 cardiomyopathy ISO RGD:732855 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 620063 Ilk integrin-linked kinase gene DOID:0060118 thoracic disease ISO RGD:732855 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 620063 Ilk integrin-linked kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 620063 Ilk integrin-linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:28492532 620063 Ilk integrin-linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 620063 Ilk integrin-linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) (human) 620063 Ilk integrin-linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:2301731|PMID:15704679 20081030 RGD protein:decreased expression:tumor:significantly lower in benign prostatic hyperplasia then any prostate cancer (p<0.01), gradient of expression from BPH to poorly differentiated C+D stage neoplasms (human) 620063 Ilk integrin-linked kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:732855 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant 620063 Ilk integrin-linked kinase gene DOID:12930 dilated cardiomyopathy ISS RGD:732856 D RGD:13592920 20180518 MouseDO 620063 Ilk integrin-linked kinase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732855 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 620063 Ilk integrin-linked kinase gene DOID:1790 malignant mesothelioma ISO RGD:732855 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 620063 Ilk integrin-linked kinase gene DOID:1793 pancreatic cancer ISO RGD:732855 D RGD:5490966|PMID:18772397 20140724 RGD DNA:mutations:exon 620063 Ilk integrin-linked kinase gene DOID:1826 epilepsy ISO RGD:732855 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20064661 620063 Ilk integrin-linked kinase gene DOID:224 transient cerebral ischemia ISO RGD:732855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15472100 620063 Ilk integrin-linked kinase gene DOID:2394 ovarian cancer severity ISO RGD:732855 D RGD:13441558|PMID:14517840 20171027 RGD protein:increased expression:ovary, surface of epithelium (human) 620063 Ilk integrin-linked kinase gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732855 D RGD:2301734|PMID:11448915 20081030 RGD protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004) (human) 620063 Ilk integrin-linked kinase gene DOID:2843 long QT syndrome ISO RGD:732855 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 620063 Ilk integrin-linked kinase gene DOID:630 genetic disease ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 620063 Ilk integrin-linked kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16941698 620063 Ilk integrin-linked kinase gene DOID:9004271 Colonic Polyps ISO RGD:732855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11593435 620063 Ilk integrin-linked kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732855 D RGD:2301733|PMID:11704830 20081030 RGD late onset development of tumors in transgenic mice overexpressing human ILK in mammary glands 620063 Ilk integrin-linked kinase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18702665|PMID:19629758 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060058 lymphoma ISO RGD:1322684 D RGD:153323305|PMID:25407497 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1322684 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1322684 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:12849 autistic disorder ISO RGD:1322684 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ISO RGD:1322684 D RGD:153323305|PMID:25407497 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:30031117|REF_RGD_ID:153323309 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1612 breast cancer ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:breast (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1993 rectum cancer ISO RGD:1322684 D RGD:153323305|PMID:25407497 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:rectum (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1322684 D RGD:153323299|PMID:28486105 20220811 RGD human cells in a mouse model 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:prostate gland (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:larynx (human) PMID:33315534|REF_RGD_ID:153323310 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1322684 D RGD:153323307|PMID:32228507 20220812 RGD human cells in a mouse model 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1322684 D RGD:151660359|PMID:29667179 20220812 RGD DNA:missense mutation:CDS:p.D140E (rs7479004) (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:kidney (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5419 schizophrenia ISO RGD:1322684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:head or neck skin (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1322684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20693977|PMID:22302795|PMID:24348274|PMID:25849321|PMID:26116663|PMID:27418512|PMID:27479907|PMID:27616479|PMID:28135719|PMID:28492532|PMID:9536098 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:liver (human) PMID:28486105|REF_RGD_ID:153323299 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:11571740|PMID:26095183 20220812 RGD protein:increased expression:liver (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1322684 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322684 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322684 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1322684 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1322684 D RGD:153323299|PMID:28486105 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9006728 Triple Negative Breast Neoplasms exacerbates ISO RGD:1322684 D RGD:153323306|PMID:29305962 20220812 RGD protein:increased expression:breast (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322684 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1322684 D RGD:7240710 20190315 OMIM 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008154 SIFRIM-HITZ-WEISS SYNDROME ISO RGD:1322684 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1322684 D RGD:153323299|PMID:28486105 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer ISO RGD:1322684 D RGD:153323299|PMID:28486105 20220811 RGD 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322684 D RGD:153323304|PMID:29467924 20220812 RGD mRNA:increased expression:lymph node (human) 620064 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:936 brain disease ISO RGD:1322684 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735977 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:1909 melanoma ISO RGD:735977 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620065 Mpst mercaptopyruvate sulfurtransferase gene DOID:9352 type 2 diabetes mellitus IEP D RGD:5134362|PMID:20127051 20150119 RGD 620066 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1346725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 620066 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:5419 schizophrenia ISO RGD:1346725 D RGD:5135429|PMID:19850283 20110720 RGD DNA:snp:intron:c.2627T>C rs1356787 (human) 620066 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:630 genetic disease ISO RGD:1346725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620066 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:7240710 20220713 OMIM 620066 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Phosphoribosylaminoimidazole carboxylase deficiency PMID:31600779 620067 Scpep1 serine carboxypeptidase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1351146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 620067 Scpep1 serine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1351146 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620067 Scpep1 serine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1351146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620069 Nip7 nucleolar pre-rRNA processing protein NIP7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 620069 Nip7 nucleolar pre-rRNA processing protein NIP7 gene DOID:630 genetic disease ISO RGD:732109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62007 Ensa endosulfine alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 62007 Ensa endosulfine alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 62007 Ensa endosulfine alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 62007 Ensa endosulfine alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736594 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 62007 Ensa endosulfine alpha gene DOID:5812 MHC class II deficiency ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 62007 Ensa endosulfine alpha gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2303423|PMID:16344894 20090213 RGD mRNA:decreased expression:spinal cord 62007 Ensa endosulfine alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:736594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 62007 Ensa endosulfine alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736594 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620071 Ipo13 importin 13 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 620071 Ipo13 importin 13 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731320 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620071 Ipo13 importin 13 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 620071 Ipo13 importin 13 gene DOID:630 genetic disease ISO RGD:731320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISS RGD:734036 D RGD:13592920 20180518 MouseDO 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734035 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:26392352|PMID:28492532 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:7240710 20211020 OMIM 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:17576681|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180|PMID:9536098 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0060249 scoliosis ISO RGD:734035 D RGD:5129159|PMID:11097445 20110325 RGD 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:734035 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:9536098 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:9536098 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:5129155|PMID:11179021 20150202 RGD 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:5129156|PMID:11179008 20110325 RGD 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:7240710 20130425 OMIM 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial dysautonomia PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27104957|PMID:27582484|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:32296180|PMID:9536098 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:1926 Gaucher's disease ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:28492532 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma ISO RGD:734035 D RGD:5129157|PMID:11281413 20110325 RGD 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma no_association ISO RGD:734035 D RGD:5129158|PMID:12774215 20110325 RGD 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:630 genetic disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179008|PMID:11179021|PMID:12116234|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27582484|PMID:28492532|PMID:29762696|PMID:9536098 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:9003358 Kyphosis ISO RGD:734035 D RGD:5129159|PMID:11097445 20110325 RGD 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734035 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 620072 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734035 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 620073 Rph3a rabphilin 3A gene DOID:0080600 COVID-19 ISO RGD:1347244 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620073 Rph3a rabphilin 3A gene DOID:630 genetic disease ISO RGD:1347244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1346307 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346307 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346307 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:20190800 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21928122 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:7240710 20210811 OMIM 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset PMID:29758562|PMID:33783914 620074 Pou4f1 POU class 4 homeobox 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 620075 Pou4f2 POU class 4 homeobox 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1346191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 620075 Pou4f2 POU class 4 homeobox 2 gene DOID:630 genetic disease ISO RGD:1346191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620076 Mkln1 muskelin 1 gene DOID:2722 acrodermatitis ISO RGD:12082382 D RGD:9068941 20210604 OMIA Acrodermatitis, lethal PMID:10563006|PMID:11105789|PMID:11440398|PMID:14592736|PMID:17693109|PMID:2402865|PMID:29565995|PMID:3710872|PMID:8981276|PMID:9256960 620076 Mkln1 muskelin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734391 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620076 Mkln1 muskelin 1 gene DOID:630 genetic disease ISO RGD:734391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620077 Lst1 leukocyte specific transcript 1 gene DOID:0050553 JMP syndrome ISO RGD:1350273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620077 Lst1 leukocyte specific transcript 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1350273 D RGD:2316565|PMID:9808588 20100216 RGD DNA:repeat:intron:IVS3dupGA (human) 620077 Lst1 leukocyte specific transcript 1 gene DOID:11372 megacolon ISO RGD:1350273 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620077 Lst1 leukocyte specific transcript 1 gene DOID:630 genetic disease ISO RGD:1350273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620077 Lst1 leukocyte specific transcript 1 gene DOID:9005372 Inflammation severity ISO RGD:1350273 D RGD:2316570|PMID:16362817 20100217 RGD associated with Arthritis, Rheumatoid; mRNA:increased expression:synovium (human) 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050453 lissencephaly ISO RGD:1348575 D RGD:11065022|PMID:17559086 20160902 RGD DNA:insertions, deletions, missense mutations: :multiple 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1348575 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:11073321|PMID:15637732 20160907 RGD DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human) 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:11532686|PMID:16575835 20160902 RGD DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:11554173 20190709 CTD CTD Direct Evidence: marker/mechanism 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:731235|PMID:12369018 19990101 RGD DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:17559086|PMID:17878207|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31311558|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:7240710 20130221 OMIM 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 PMID:11053679|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348575 D RGD:11069993|PMID:22549409 20160902 RGD associated with Muscular Dystrophies 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348575 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28182637|PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348575 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1348575 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:16575835|PMID:25741868|PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1348575 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12369018|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:17559086|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28157257|PMID:28492532|PMID:31311558|PMID:32528171|PMID:35046417 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:7240710 20130221 OMIM 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11 PMID:11053679|PMID:12369018|PMID:14678799|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:19763152|PMID:20065251|PMID:20307669|PMID:20816175|PMID:21102627|PMID:22323514|PMID:22406018|PMID:22499106|PMID:22522420|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28157257|PMID:28182637|PMID:28492532|PMID:28556411|PMID:29101272|PMID:30060766|PMID:30426380|PMID:31311558|PMID:32528171|PMID:32860008|PMID:33146414|PMID:35046417|PMID:35769956|PMID:9536098 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:7240710 20190703 OMIM 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15037715|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:20065251|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28556411|PMID:30426380|PMID:31311558|PMID:31319225|PMID:32860008|PMID:9536098 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 PMID:12369018|PMID:15637732|PMID:16575835|PMID:25741868|PMID:28116189|PMID:28492532|PMID:31311558 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1348575 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16575835|PMID:18647264|PMID:25741868|PMID:26467025|PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:10908 hydrocephalus ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348575 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1348575 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28490743|PMID:28492532|PMID:30060766|PMID:31311558|PMID:32528171|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348575 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:14678799|PMID:15792865|PMID:17878207|PMID:25741868|PMID:28097321|PMID:28492532|PMID:30426380 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:9009131 Ventriculomegaly ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:9296 cleft lip ISO RGD:1348575 D RGD:11532685|PMID:18640039 20160902 RGD associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon 620078 Pomt1 protein-O-mannosyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1348575 D RGD:11532686|PMID:16575835 20160902 RGD DNA:mutations: :multiple 620079 Ppp1r10 protein phosphatase 1, regulatory subunit 10 gene DOID:1059 intellectual disability ISO RGD:732967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868 620079 Ppp1r10 protein phosphatase 1, regulatory subunit 10 gene DOID:11372 megacolon ISO RGD:732967 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620079 Ppp1r10 protein phosphatase 1, regulatory subunit 10 gene DOID:630 genetic disease ISO RGD:732967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62008 Cntn6 contactin 6 gene DOID:0060041 autism spectrum disorder ISO RGD:733383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23872404|PMID:25606055|PMID:25741868|PMID:26257835|PMID:30826922 62008 Cntn6 contactin 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733383 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 62008 Cntn6 contactin 6 gene DOID:12849 autistic disorder ISO RGD:733383 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 62008 Cntn6 contactin 6 gene DOID:5419 schizophrenia ISO RGD:733383 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62008 Cntn6 contactin 6 gene DOID:630 genetic disease ISO RGD:733383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62008 Cntn6 contactin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733383 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:736859 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:736859 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:28492532 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:7240710 20140911 OMIM 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1D PMID:12037007|PMID:16199547|PMID:17576681|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532|PMID:30902645|PMID:9536098 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:736859 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736859 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:2717 Bloom syndrome ISO RGD:736859 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:630 genetic disease ISO RGD:736859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:8501 fundus dystrophy ISO RGD:736859 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:9685494|PMID:23564126 20150115 RGD mRNA, protein:decreased expression:cerebrum 620080 Slc24a1 solute carrier family 24 member 1 gene DOID:9256 colorectal cancer ISO RGD:736859 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:0060067 Pearson syndrome ISO RGD:1344890 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1344890 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1344890 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:10960495 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:10003 sensorineural hearing loss ISO RGD:1344890 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28027978 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:11054 urinary bladder cancer ISO RGD:1344890 D RGD:2298953|PMID:18245469 20080805 RGD DNA:deletion:cds 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:11832 visual epilepsy IEP D RGD:2298956|PMID:15698621 20080805 RGD protein:decreased expression:mitochondrion, brain 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:12930 dilated cardiomyopathy ISO RGD:1344890 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:14791 Leber congenital amaurosis ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:11464242|PMID:11601507|PMID:23418307|PMID:32906214 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:1826 epilepsy ISO RGD:1344890 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28027978 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:3526 cerebral infarction ISO RGD:1344890 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Ischemic stroke 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:3652 Leigh disease ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10329023|PMID:10453733|PMID:10894993|PMID:10960495|PMID:11047755|PMID:11891837|PMID:12150954|PMID:12905068|PMID:13298683|PMID:17003408|PMID:1732158|PMID:17637808|PMID:1764087|PMID:19062322|PMID:19555656|PMID:20301353|PMID:22241583|PMID:24667782|PMID:25741868|PMID:26566881|PMID:28027978|PMID:30143805|PMID:7901141|PMID:8240104|PMID:8321540|PMID:8755941|PMID:9806551 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:3652 Leigh disease ISO RGD:1344890 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10329023|PMID:10453733|PMID:10894993|PMID:10960495|PMID:11047755|PMID:11891837|PMID:12150954|PMID:12905068|PMID:13298683|PMID:17003408|PMID:1732158|PMID:17637808|PMID:1764087|PMID:19062322|PMID:19555656|PMID:20301353|PMID:22241583|PMID:24667782|PMID:25741868|PMID:26566881|PMID:28027978|PMID:30143805|PMID:32906214|PMID:7901141|PMID:8240104|PMID:8321540|PMID:8755941|PMID:9806551 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:3687 MELAS syndrome ISO RGD:1344890 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:4001 ovarian carcinoma ISO RGD:1344890 D RGD:2298954|PMID:11507041 20080805 RGD DNA:polymorphisms, nonsense mutation 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:699 mitochondrial myopathy ISO RGD:1344890 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:28027978 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:700 mitochondrial metabolism disease ISO RGD:1344890 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:700 mitochondrial metabolism disease ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:11601507|PMID:11891837|PMID:23418307|PMID:32906214 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344890 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy PMID:11464242|PMID:11601507|PMID:1732158|PMID:1764087|PMID:20301353|PMID:23418307|PMID:25741868|PMID:30143805|PMID:32906214|PMID:7901141|PMID:8240104|PMID:8321540|PMID:8755941 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:7997 thyrotoxicosis IEP D RGD:2298979|PMID:6215275 20080807 RGD protein:decreased expression:mitochondrion, brain, kidney, liver 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1344890 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:11047755 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10960495|PMID:24667782 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1344890 D RGD:8554872 20161115 ClinVar ClinVar Annotator: match by term: Exercise intolerance, cardiomyopathy, and septooptic dysplasia PMID:11891837 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2298972|PMID:2836123 20080806 RGD protein:increased expression:mitochondrion, liver 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:24667782|PMID:25741868 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9003594 Mitochondrial Cytopathy ISO RGD:1344890 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial cytopathy PMID:28027978 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9004009 Reperfusion Injury IEP D RGD:2298967|PMID:7692737 20080806 RGD mRNA:decreased expression:kidney 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9004484 Sepsis IEP D RGD:2298978|PMID:6128308 20080807 RGD protein:decreased expression:mitochondrion, skeletal muscle 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9004538 Hearing Loss ISO RGD:1344890 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28027978 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9004866 Ataxia ISO RGD:1344890 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:28027978 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9004989 Protein Deficiency IEP D RGD:2298983|PMID:5954822 20080807 RGD protein:decreased expression:liver 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1578536|PMID:15126286 20080805 RGD mRNA:decreased expression:heart 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9006878 Exercise Intolerance ISO RGD:1344890 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Exercise intolerance PMID:10502593|PMID:11464242|PMID:11506394|PMID:11782982|PMID:14520667|PMID:8186719|PMID:8910895|PMID:8988236 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9007480 Hyperoxia IEP D RGD:2298955|PMID:18481000 20080805 RGD mRNA:increased expression:lung 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient PMID:10502593|PMID:11464242|PMID:11506394|PMID:11601507|PMID:11782982|PMID:14520667|PMID:23418307|PMID:32906214|PMID:8186719|PMID:8910895|PMID:8988236 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9007653 Multiple Abnormalities ISO RGD:1344890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multisystem disorder PMID:11601507|PMID:23418307|PMID:32906214 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9007730 Burns IDA D RGD:2298976|PMID:3779466 20080807 RGD 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344890 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9256 colorectal cancer ISO RGD:1344890 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:9806551 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2298962|PMID:7588317 20080806 RGD mRNA:decreased expression:pancreatic islet 620081 Mt-cyb mitochondrially encoded cytochrome b gene DOID:9970 obesity ISO RGD:1344890 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Obesity PMID:12905068|PMID:25741868 620082 Runx3 RUNX family transcription factor 3 gene DOID:0050589 inflammatory bowel disease ISS RGD:734144 D RGD:13592920 20180518 MouseDO 620082 Runx3 RUNX family transcription factor 3 gene DOID:0060250 idiopathic scoliosis ISS RGD:734144 D RGD:13592920 20220616 MouseDO 620082 Runx3 RUNX family transcription factor 3 gene DOID:0080600 COVID-19 ISO RGD:1351530 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620082 Runx3 RUNX family transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1351530 D RGD:126775146|PMID:15386419 20210406 RGD mRNA:decreased expression:stomach 620082 Runx3 RUNX family transcription factor 3 gene DOID:10608 celiac disease ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 620082 Runx3 RUNX family transcription factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1351530 D RGD:2302553|PMID:16230397 20081230 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 620082 Runx3 RUNX family transcription factor 3 gene DOID:1612 breast cancer ISO RGD:1351530 D RGD:2302554|PMID:16818622 20081230 RGD DNA, protein:hypermethylation, altered localization:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1351530 D RGD:2324956|PMID:18475302 20100517 RGD DNA:hypermethylation, loss of heterozygosity (human) 620082 Runx3 RUNX family transcription factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1351530 D RGD:2302556|PMID:18937968 20081230 RGD mRNA:increased expression 620082 Runx3 RUNX family transcription factor 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351530 D RGD:18337279|PMID:26175272 20200120 RGD 620082 Runx3 RUNX family transcription factor 3 gene DOID:2841 asthma ISS RGD:734144 D RGD:13592920 20180518 MouseDO OMIM:600807 620082 Runx3 RUNX family transcription factor 3 gene DOID:2871 endometrial carcinoma ISO RGD:1351530 D RGD:2302555|PMID:18572225 20081230 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:299 adenocarcinoma ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 620082 Runx3 RUNX family transcription factor 3 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1351530 D RGD:2302557|PMID:18256927 20081230 RGD DNA, protein:hypermethylation, altered localization:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:3068 glioblastoma ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 620082 Runx3 RUNX family transcription factor 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1351530 D RGD:126779568|PMID:18500170 20210408 RGD mRNA:decreased expression:esophagus mucosa 620082 Runx3 RUNX family transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351530 D RGD:13503324|PMID:18349282 20210408 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351530 D RGD:13792554|PMID:25520863 20180912 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1351530 D RGD:2324955|PMID:19827872 20100517 RGD protein:decreased expression:bile duct 620082 Runx3 RUNX family transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620082 Runx3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28458013 620082 Runx3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:126775147|PMID:17094378 20210406 RGD mRNA:decreased expression:liver 620082 Runx3 RUNX family transcription factor 3 gene DOID:7147 ankylosing spondylitis ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 620082 Runx3 RUNX family transcription factor 3 gene DOID:8719 in situ carcinoma ISO RGD:1351530 D RGD:2324958|PMID:19763613 20100517 RGD associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:8893 psoriasis ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 620082 Runx3 RUNX family transcription factor 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1351530 D RGD:2324957|PMID:15471559 20100517 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18058463 620082 Runx3 RUNX family transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 620082 Runx3 RUNX family transcription factor 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1351530 D RGD:2302551|PMID:15386381 20081230 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1351530 D RGD:2324957|PMID:15471559 20100517 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1351530 D RGD:2324957|PMID:15471559 20100517 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 620082 Runx3 RUNX family transcription factor 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1351530 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 620082 Runx3 RUNX family transcription factor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351530 D RGD:2302552|PMID:16080503 20081230 RGD DNA:hypermethylation:promoter 620082 Runx3 RUNX family transcription factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1351530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 620082 Runx3 RUNX family transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351530 D RGD:126779569|PMID:25925209 20210408 RGD 620083 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:0050328 congenital hypothyroidism IEP D RGD:11049155|PMID:21575372 20181019 RGD protein:altered expression:cerebral cortex (rat) 620083 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:1596 depressive disorder treatment IDA D RGD:13800885|PMID:25641667 20181019 RGD 620083 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:3910 lung adenocarcinoma ISO RGD:1351705 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 620083 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:684 hepatocellular carcinoma ISO RGD:1351705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 620083 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:9000998 Brain Injuries treatment IDA D RGD:13800884|PMID:26813465 20181019 RGD 620083 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5147874|PMID:17465459 20181019 RGD protein:decreased expression:retina (rat) 620084 Capn5 calpain 5 gene DOID:1059 intellectual disability ISO RGD:731758 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620084 Capn5 calpain 5 gene DOID:630 genetic disease ISO RGD:731758 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 620084 Capn5 calpain 5 gene DOID:8501 fundus dystrophy ISO RGD:731758 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 620084 Capn5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:7240710 20200115 OMIM 620084 Capn5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proliferative vitreoretinopathy PMID:2234842|PMID:23055945|PMID:24381307|PMID:25741868|PMID:25994508|PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 620085 Capn8 calpain 8 gene DOID:10608 celiac disease ISO RGD:736537 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 620085 Capn8 calpain 8 gene DOID:1540 parathyroid carcinoma ISO RGD:736537 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620085 Capn8 calpain 8 gene DOID:630 genetic disease ISO RGD:736537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620085 Capn8 calpain 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736537 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620086 Cyp2t1 cytochrome P450, family 2, subfamily t, polypeptide 1 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:0050589 inflammatory bowel disease ISO RGD:736886 D RGD:5688766|PMID:16195422 20120306 RGD protein, mRNA:increased expression: colonic mucosa: inflamed tissue only 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500342|PMID:25526675 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:7240710 20131030 OMIM 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing PMID:17551338|PMID:18500342|PMID:18805827|PMID:19306095|PMID:25741868|PMID:28492532|PMID:32282352|PMID:9402870 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:1520 colon carcinoma ISO RGD:736886 D RGD:5688759|PMID:19494278 20120306 RGD DNA:::adenoviral delivery of human gene in mouse model of colon cancer 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:305 carcinoma treatment IDA D RGD:11667092|PMID:18058808 20170116 RGD 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:5394 prolactinoma ISO RGD:736886 D RGD:11667097|PMID:22580984 20170116 RGD mRNA:decreased expression:pituitary gland 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736886 D RGD:11667097|PMID:22580984 20170116 RGD mRNA:decreased expression:pituitary gland 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:630 genetic disease ISO RGD:736886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:6432 pulmonary hypertension ISO RGD:736886 D RGD:11667099|PMID:24657469 20170116 RGD mRNA, protein:increased expression:lung 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:750 peptic ulcer disease treatment IEP D RGD:11667098|PMID:23884819 20170116 RGD 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:7240710 20130221 OMIM 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PMID:17551338|PMID:18500342|PMID:19306095|PMID:25741868|PMID:28492532|PMID:29758562|PMID:32282352|PMID:9402870 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000972 Fever IEP D RGD:2316279|PMID:12399253 20161117 RGD mRNA:decreased expression:liver, lung 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736886 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004484 Sepsis ISO RGD:736887 D RGD:5688768|PMID:9603077 20120306 RGD protein: decreased expression 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004547 Thyroid Neoplasms ISO RGD:736886 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11352223 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:11667099|PMID:24657469 20170116 RGD mRNA, protein:increased expression:lung 620087 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9006195 Medullary Carcinomas ISO RGD:736886 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11352223 620089 Ocln occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:7240710 20130221 OMIM 620089 Ocln occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 PMID:18414213|PMID:19012351|PMID:20727516|PMID:25741868|PMID:28492532 620089 Ocln occludin gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 620089 Ocln occludin gene DOID:0081292 traumatic brain injury ISO RGD:732985 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 620089 Ocln occludin gene DOID:10825 essential hypertension ISO RGD:732985 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 620089 Ocln occludin gene DOID:13938 amenorrhea ISO RGD:732985 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620089 Ocln occludin gene DOID:14566 disease of cellular proliferation ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16982755 620089 Ocln occludin gene DOID:3021 acute kidney failure ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19766176 620089 Ocln occludin gene DOID:4481 allergic rhinitis ISO RGD:732985 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 620089 Ocln occludin gene DOID:5679 retinal disease ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 620089 Ocln occludin gene DOID:630 genetic disease ISO RGD:732985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28386946|PMID:28492532 620089 Ocln occludin gene DOID:8778 Crohn's disease ISO RGD:732985 D RGD:11341809|PMID:21748286 20160706 RGD 620089 Ocln occludin gene DOID:8947 diabetic retinopathy treatment IEP D RGD:11341734|PMID:25685822 20160705 RGD 620089 Ocln occludin gene DOID:9002720 Splenomegaly ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 620089 Ocln occludin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732985 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620089 Ocln occludin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 620089 Ocln occludin gene DOID:9007730 Burns IEP D RGD:8655996|PMID:22001439 20160706 RGD associated with Binge Drinking;protein:decreased expression, decreased tyrosine, threonine phosphorylation:intestine mucosa: 620089 Ocln occludin gene DOID:9008086 Developmental Disabilities ISO RGD:732985 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 620089 Ocln occludin gene DOID:9008939 Breast Neoplasms ISO RGD:732985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17459053|PMID:24014025 62009 Zfp36l1 zinc finger protein 36, C3H type-like 1 gene DOID:0080600 COVID-19 ISO RGD:732154 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 62009 Zfp36l1 zinc finger protein 36, C3H type-like 1 gene DOID:630 genetic disease ISO RGD:732154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620091 Upb1 beta-ureidopropionase 1 gene DOID:0014667 disease of metabolism ISO RGD:734439 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 620091 Upb1 beta-ureidopropionase 1 gene DOID:0050562 West syndrome ISO RGD:734439 D RGD:11554173 20180605 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 620091 Upb1 beta-ureidopropionase 1 gene DOID:10608 celiac disease ISO RGD:734439 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 620091 Upb1 beta-ureidopropionase 1 gene DOID:12849 autistic disorder ISO RGD:734439 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 620091 Upb1 beta-ureidopropionase 1 gene DOID:1826 epilepsy ISO RGD:734439 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620091 Upb1 beta-ureidopropionase 1 gene DOID:5419 schizophrenia ISO RGD:734439 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620091 Upb1 beta-ureidopropionase 1 gene DOID:630 genetic disease ISO RGD:734439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:22525402|PMID:24526388|PMID:25741868|PMID:28492532|PMID:30608453|PMID:35151535 620091 Upb1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:7240710 20130221 OMIM 620091 Upb1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Beta-ureidopropionase deficiency PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:17964839|PMID:22525402|PMID:23238479|PMID:24033266|PMID:24123366|PMID:24526388|PMID:25236466|PMID:25445412|PMID:25638458|PMID:25741868|PMID:27553092|PMID:28492532|PMID:30109123|PMID:30608453|PMID:31180159|PMID:35151535 620092 Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 gene DOID:3070 high grade glioma disease_progression ISO RGD:737324 D RGD:13674178|PMID:27012733 20180711 RGD 620092 Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:737324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620092 Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737324 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 620092 Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737324 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 620093 Xylt1 xylosyltransferase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:737486 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 620093 Xylt1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:7240710 20130221 OMIM 620093 Xylt1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:24581741|PMID:25741868|PMID:28085539|PMID:28492532 620093 Xylt1 xylosyltransferase 1 gene DOID:303 substance-related disorder ISO RGD:737486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620093 Xylt1 xylosyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:737486 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620093 Xylt1 xylosyltransferase 1 gene DOID:557 kidney disease IEP D RGD:2313146|PMID:18095597 20090910 RGD mRNA:increased expression:kidney 620093 Xylt1 xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 620093 Xylt1 xylosyltransferase 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2313145|PMID:18765417 20090910 RGD 620093 Xylt1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:7240710 20170308 OMIM 620093 Xylt1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 2 PMID:16571645|PMID:22711505|PMID:23982343|PMID:24581741|PMID:25741868|PMID:28462984|PMID:28492532|PMID:30554721 620093 Xylt1 xylosyltransferase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737486 D RGD:2313138|PMID:17003309 20090910 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:missense mutation:cds:p.A115S (human) 620093 Xylt1 xylosyltransferase 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:2313142|PMID:19001053 20090910 RGD mRNA:decreased expression:articular cartilage 620093 Xylt1 xylosyltransferase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:16376579|PMID:16571645|PMID:17576681|PMID:24581741|PMID:25741868|PMID:26601923|PMID:28085539|PMID:28229453|PMID:28462984|PMID:28492532|PMID:30554721|PMID:31785789|PMID:9536098 620093 Xylt1 xylosyltransferase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737486 D RGD:2313136|PMID:16759312 20090910 RGD DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) 620094 Magt1 magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731507 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620094 Magt1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:7240710 20140911 OMIM 620094 Magt1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:16199547|PMID:17576681|PMID:21796205|PMID:24550228|PMID:25135935|PMID:25504528|PMID:25741868|PMID:25956530|PMID:26422833|PMID:27770395|PMID:28353193|PMID:28492532|PMID:31036665|PMID:32499645|PMID:32581362|PMID:33831577|PMID:9536098 620094 Magt1 magnesium transporter 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:731507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 620094 Magt1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:7240710 20190911 OMIM 620094 Magt1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 620094 Magt1 magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:731507 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620094 Magt1 magnesium transporter 1 gene DOID:1838 Menkes disease ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 620094 Magt1 magnesium transporter 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 620094 Magt1 magnesium transporter 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098 620094 Magt1 magnesium transporter 1 gene DOID:612 primary immunodeficiency disease ISS RGD:731508 D RGD:13592920 20180524 MouseDO OMIM:242850 620094 Magt1 magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620095 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:29581481|PMID:35172124 620095 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:14227 azoospermia ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:29581481|PMID:35172124 620095 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1351234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620095 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:7240710 20220427 OMIM 620095 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 70 PMID:29581481|PMID:35172124 620096 Eya2 EYA transcriptional coactivator and phosphatase 2 gene DOID:2234 focal epilepsy ISO RGD:1350703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 620096 Eya2 EYA transcriptional coactivator and phosphatase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350703 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620096 Eya2 EYA transcriptional coactivator and phosphatase 2 gene DOID:630 genetic disease ISO RGD:1350703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620097 Mgat1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349279 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620097 Mgat1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:7240710 20130221 OMIM 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:11228641|PMID:20684000|PMID:22105986|PMID:23806237|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28742265|PMID:8808595 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:731495 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:24033266|PMID:25741868|PMID:28492532 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:731495 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9003281 Spontaneous Abortions ISO RGD:731495 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:731496 D RGD:1581206|PMID:11805078 19990101 RGD 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20684000|PMID:22105986|PMID:25558065|PMID:28492532|PMID:28742265 620098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 620099 Slc17a1 solute carrier family 17 member 1 gene DOID:630 genetic disease ISO RGD:1350724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620099 Slc17a1 solute carrier family 17 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350724 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0080690 RASopathy ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1345690 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0110651 long QT syndrome 10 ISO RGD:1345690 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1345690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1345690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345690 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 62010 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:9007661 Dwarfism ISO RGD:1345690 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620100 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:576 proteinuria IAGP D RGD:12798539|PMID:21257920 20170324 RGD 620100 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:737363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620100 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23798564 620100 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9006549 Enterovirus Infections ISO RGD:737363 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 620101 Slc17a7 solute carrier family 17 member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 620101 Slc17a7 solute carrier family 17 member 7 gene DOID:11446 sciatic neuropathy IEP D RGD:9999206|PMID:23835161 20150413 RGD protein:decreased expression:nucleus accumbens 620101 Slc17a7 solute carrier family 17 member 7 gene DOID:224 transient cerebral ischemia IEP D RGD:9999193|PMID:23458738 20150410 RGD 620101 Slc17a7 solute carrier family 17 member 7 gene DOID:630 genetic disease ISO RGD:733841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620101 Slc17a7 solute carrier family 17 member 7 gene DOID:8927 learning disability ISO RGD:733841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 620101 Slc17a7 solute carrier family 17 member 7 gene DOID:9008023 Memory Disorders ISO RGD:733841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 620102 Gdf5 growth differentiation factor 5 gene DOID:0050581 brachydactyly ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:17384641|PMID:25741868|PMID:28492532 620102 Gdf5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:12437084|PMID:12121354 20170127 RGD DNA:missense mutation:cds:T1322C (p.L441P)(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:7240710 20130425 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2B PMID:12121354|PMID:16014698|PMID:16127465|PMID:17384641|PMID:18629880|PMID:25741868|PMID:28492532 620102 Gdf5 growth differentiation factor 5 gene DOID:0050794 multiple synostoses syndrome ISS RGD:1622400 D RGD:13592920 20180518 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 620102 Gdf5 growth differentiation factor 5 gene DOID:0080049 acromesomelic dysplasia ISO RGD:1345266 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 620102 Gdf5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:7240710 20131030 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:17384641|PMID:25741868|PMID:2703235|PMID:28492532|PMID:8589725|PMID:964999 620102 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:12437075|PMID:19038017 20170127 RGD DNA:insertion mutation:cds:1114insGAGT(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:12437083|PMID:23812741 20170127 RGD DNA:missense mutation:cds:c.527T>C(p.L176P)(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:12487346|PMID:18979166 20170127 RGD DNA:missense mutation:cds:c.1285T>C (p.C429R)(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:7240710 20130425 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grebe syndrome PMID:12124730|PMID:12900894|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9288098 620102 Gdf5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:7240710 20201021 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism, proximal, 1B PMID:12121354|PMID:16014698|PMID:16127465|PMID:16532400|PMID:16892395|PMID:18283415 620102 Gdf5 growth differentiation factor 5 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:1345266 D RGD:12738199|PMID:16532400 20170130 RGD DNA:missense mutation:cds:p.R438L(1313G>T)(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:1345266 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 620102 Gdf5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:7240710 20130425 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 2 PMID:16127465|PMID:16532400|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9024575|PMID:9288091 620102 Gdf5 growth differentiation factor 5 gene DOID:0110964 brachydactyly type A1 ISO RGD:1345266 D RGD:12437076|PMID:20683927 20170127 RGD DNA:missense mutation:cds:c.1195C>T(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:7240710 20130425 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:12121354|PMID:12357473|PMID:16014698|PMID:16127465|PMID:18203755|PMID:25741868|PMID:27577507|PMID:28492532|PMID:8589725|PMID:9288091 620102 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:12437083|PMID:23812741 20170127 RGD DNA:missense mutation:cds:c.527T>C(p.L176P)(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:12738200|PMID:25092592 20170130 RGD DNA:missense mutations:cds:p.T201P,p.L263P (human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:12738202|PMID:14735582 20170130 RGD DNA:mutation:cds:p.M173V(517A>G)(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:7240710 20130425 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type C PMID:12357473|PMID:12567410|PMID:13953230|PMID:14735582|PMID:16957682|PMID:18283415|PMID:25741868|PMID:9024575|PMID:9288091 620102 Gdf5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:7240710 20140903 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1C PMID:20683927|PMID:25741868|PMID:9288098 620102 Gdf5 growth differentiation factor 5 gene DOID:11193 syndactyly ISO RGD:1622400 D RGD:12738203|PMID:18984342 20170130 RGD DNA:insertion:cds: 620102 Gdf5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease IEP D RGD:12738228|PMID:24373993 20170131 RGD mRNA:increased expression:striatum: 620102 Gdf5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease treatment ISO RGD:1345266 D RGD:12738227|PMID:22436046 20170131 RGD 620102 Gdf5 growth differentiation factor 5 gene DOID:2256 osteochondrodysplasia ISO RGD:1345266 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 620102 Gdf5 growth differentiation factor 5 gene DOID:630 genetic disease ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620102 Gdf5 growth differentiation factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1345266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18830904 620102 Gdf5 growth differentiation factor 5 gene DOID:8398 osteoarthritis ISO RGD:1345266 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:18830904|PMID:30664745 620102 Gdf5 growth differentiation factor 5 gene DOID:8398 osteoarthritis ISO RGD:1345266 D RGD:7240710 20130425 OMIM 620102 Gdf5 growth differentiation factor 5 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345266 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 620102 Gdf5 growth differentiation factor 5 gene DOID:9004340 Developmental Dysplasia of the Hip 1 ISO RGD:1345266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18947434 620102 Gdf5 growth differentiation factor 5 gene DOID:9004340 Developmental Dysplasia of the Hip 1 susceptibility ISO RGD:1345266 D RGD:12738201|PMID:18947434 20170130 RGD DNA:SNP::rs143383(human) 620102 Gdf5 growth differentiation factor 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345266 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Osteoarthritis, hip PMID:17384641|PMID:28492532 620102 Gdf5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1345266 D RGD:12738226|PMID:17507245 20170131 RGD 620102 Gdf5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1622400 D RGD:12738229|PMID:16419971 20170131 RGD 620102 Gdf5 growth differentiation factor 5 gene DOID:9008763 Femoral Fractures treatment ISO RGD:1345266 D RGD:12738204|PMID:25543012 20170130 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:0080855 Parkinsonism IDA D RGD:10053712|PMID:23251488 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:0081292 traumatic brain injury treatment IEP D RGD:13782254|PMID:24582457 20180829 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620103 Bad BCL2-associated agonist of cell death gene DOID:10286 prostate carcinoma ISO RGD:735541 D RGD:2292676|PMID:11781193 20080502 RGD protein:increased expression:prostate gland 620103 Bad BCL2-associated agonist of cell death gene DOID:1059 intellectual disability ISO RGD:735541 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620103 Bad BCL2-associated agonist of cell death gene DOID:10652 Alzheimer's disease ISO RGD:735541 D RGD:10053642|PMID:9507158 20150716 RGD protein:increased expression:temporal cortex, membrane 620103 Bad BCL2-associated agonist of cell death gene DOID:10652 Alzheimer's disease treatment ISO RGD:733062 D RGD:10053639|PMID:15339646 20150716 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:10763 hypertension treatment IEP D RGD:10053702|PMID:20065158 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:10808 gastric ulcer treatment IDA D RGD:10053695|PMID:24378970 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:11132 prostatic hypertrophy ISO RGD:735541 D RGD:2292676|PMID:11781193 20080502 RGD protein:increased expression:prostate gland 620103 Bad BCL2-associated agonist of cell death gene DOID:11832 visual epilepsy IEP D RGD:2292693|PMID:15968425 20080502 RGD protein:decreased phosphorylation:hippocampus 620103 Bad BCL2-associated agonist of cell death gene DOID:1240 leukemia ISO RGD:735541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 620103 Bad BCL2-associated agonist of cell death gene DOID:1380 endometrial cancer disease progression ISO RGD:735541 D RGD:13432164|PMID:24645842 20070320 RGD protein:altered expression:endometrium (human) 620103 Bad BCL2-associated agonist of cell death gene DOID:1459 hypothyroidism IEP D RGD:10053713|PMID:22513421 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:1612 breast cancer disease_progression ISO RGD:735541 D RGD:2292674|PMID:17004114 20080501 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:1686 glaucoma IEP D RGD:2292690|PMID:16103353 20080502 RGD protein:decreased serine phosphorylation:retina 620103 Bad BCL2-associated agonist of cell death gene DOID:1793 pancreatic cancer treatment ISO RGD:735541 D RGD:13451129|PMID:23523869 20171115 RGD human cells in a mouse model 620103 Bad BCL2-associated agonist of cell death gene DOID:1875 impotence treatment IDA D RGD:10053666|PMID:21235725 20150717 RGD associated with Diabetes Mellitus, Experimental 620103 Bad BCL2-associated agonist of cell death gene DOID:219 colon cancer treatment IDA D RGD:10053668|PMID:21214291 20150717 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:224 transient cerebral ischemia ISO RGD:735541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12629175 620103 Bad BCL2-associated agonist of cell death gene DOID:2316 brain ischemia IEP D RGD:10053716|PMID:22843461 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:2316 brain ischemia IEP D RGD:2292681|PMID:18078455 20080502 RGD protein:decreased serine phosphorylation:brain 620103 Bad BCL2-associated agonist of cell death gene DOID:3021 acute kidney failure treatment IEP D RGD:10053672|PMID:20037173 20150717 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:3070 high grade glioma IEP D RGD:2292675|PMID:16944316 20080501 RGD protein:increased phosphorylation:brain (rat) 620103 Bad BCL2-associated agonist of cell death gene DOID:3070 high grade glioma ISO RGD:735541 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 620103 Bad BCL2-associated agonist of cell death gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:733062 D RGD:13506907|PMID:10582606 20180222 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10053665|PMID:22200499 20150717 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10053704|PMID:21891976 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:3669 intermittent claudication IEP D RGD:9586024|PMID:23658678 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:3770 pulmonary fibrosis IEP D RGD:2292680|PMID:18198484 20080502 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:13432584|PMID:21918885 20171003 RGD protein:decreased expression:lung 620103 Bad BCL2-associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:13434906|PMID:24092988 20171004 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:4448 macular degeneration severity ISO RGD:735541 D RGD:10053644|PMID:22773904 20150716 RGD protein:increased expression:vitreous humor 620103 Bad BCL2-associated agonist of cell death gene DOID:4450 renal cell carcinoma ISO RGD:735541 D RGD:2292677|PMID:15851405 20080502 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:630 genetic disease ISO RGD:735541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620103 Bad BCL2-associated agonist of cell death gene DOID:8398 osteoarthritis ISO RGD:735541 D RGD:10053643|PMID:19217321 20150716 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9000998 Brain Injuries IEP D RGD:2292694|PMID:15941375 20080502 RGD mRNA, protein:increased expression:cerebral cortex 620103 Bad BCL2-associated agonist of cell death gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2292699|PMID:15345971 20080502 RGD protein:decreased serine phosphorylation:lung 620103 Bad BCL2-associated agonist of cell death gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:10053711|PMID:23056591 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IDA D RGD:10053660|PMID:23643992 20150722 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10053673|PMID:22647552 20150717 RGD mRNA:increased expression:liver 620103 Bad BCL2-associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10053710|PMID:22847887 20150720 RGD associated with Non-alcoholic Fatty Liver Disease 620103 Bad BCL2-associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:733062 D RGD:2292673|PMID:17607361 20080501 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:735541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17542986|PMID:19593445 620103 Bad BCL2-associated agonist of cell death gene DOID:9003936 Cardiomegaly treatment IDA D RGD:10053646|PMID:21921241 20150716 RGD associated with Hypertension 620103 Bad BCL2-associated agonist of cell death gene DOID:9004009 Reperfusion Injury IEP D RGD:2292679|PMID:18347331 20080502 RGD protein:altered localization:brain, mitochondria 620103 Bad BCL2-associated agonist of cell death gene DOID:9004484 Sepsis IEP D RGD:10053647|PMID:24011917 20150716 RGD protein:increased localization:mitochondrion 620103 Bad BCL2-associated agonist of cell death gene DOID:9004484 Sepsis treatment IDA D RGD:10053707|PMID:22683079 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9004953 Diabetic Cystopathy treatment IDA D RGD:10053664|PMID:23129268 20150717 RGD associated with Diabetes Mellitus, Experimental 620103 Bad BCL2-associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms severity IEP D RGD:10053708|PMID:20732338 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2292685|PMID:17870134 20080502 RGD protein:increased expression, decreased phosphorylation, altered activity:testis 620103 Bad BCL2-associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:5131482|PMID:21330660 20150717 RGD protein:decreased serine phosphorylation:cornea 620103 Bad BCL2-associated agonist of cell death gene DOID:9006190 Chronic Pancreatitis severity IEP D RGD:10053701|PMID:22549003 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:10053697|PMID:21296063 20150720 RGD associated with Diabetes Mellitus, Experimental 620103 Bad BCL2-associated agonist of cell death gene DOID:9007334 Small-For-Size Syndrome treatment IDA D RGD:10053671|PMID:22151301 20150717 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IDA D RGD:10053709|PMID:25447754 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9007692 Insulin Resistance IDA D RGD:10053645|PMID:21385329 20150716 RGD protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart 620103 Bad BCL2-associated agonist of cell death gene DOID:9007730 Burns IEP D RGD:2292697|PMID:15625305 20080502 RGD protein:increased expression:neutrophil 620103 Bad BCL2-associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2292700|PMID:15339931 20080502 RGD protein:increased expression, decreased serine phosphorylation:heart 620103 Bad BCL2-associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:10053674|PMID:23364609 20150717 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10053698|PMID:23032698 20150720 RGD 620103 Bad BCL2-associated agonist of cell death gene DOID:9743 diabetic neuropathy treatment IDA D RGD:10053667|PMID:24288572 20150717 RGD associated with Diabetes Mellitus, Experimental 620103 Bad BCL2-associated agonist of cell death gene DOID:9970 obesity IEP D RGD:2292682|PMID:18070754 20080502 RGD protein:increased expression:heart left ventricle 620104 Gdf6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:7240710 20130221 OMIM 620104 Gdf6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 4 PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 620104 Gdf6 growth differentiation factor 6 gene DOID:0080205 CAKUT ISO RGD:1347722 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 620104 Gdf6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:7240710 20130221 OMIM 620104 Gdf6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18425797|PMID:19129173|PMID:19864492|PMID:20057906|PMID:20494911|PMID:21070663|PMID:22204637|PMID:23307924|PMID:24033266|PMID:24442880|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32737436|PMID:9129173 620104 Gdf6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:7240710 20190315 OMIM 620104 Gdf6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 4 PMID:25741868|PMID:26643732|PMID:29130651 620104 Gdf6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:7240710 20140911 OMIM 620104 Gdf6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 17 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 620104 Gdf6 growth differentiation factor 6 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1347722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18425797 620104 Gdf6 growth differentiation factor 6 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1347722 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 620104 Gdf6 growth differentiation factor 6 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1347722 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 620104 Gdf6 growth differentiation factor 6 gene DOID:630 genetic disease ISO RGD:1347722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620104 Gdf6 growth differentiation factor 6 gene DOID:674 cleft palate ISO RGD:1347722 D RGD:12798509|PMID:18716610 20170322 RGD 620104 Gdf6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:7240710 20130221 OMIM 620104 Gdf6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436 620104 Gdf6 growth differentiation factor 6 gene DOID:9296 cleft lip ISO RGD:1347722 D RGD:12798509|PMID:18716610 20170322 RGD 620105 Gdf7 growth differentiation factor 7 gene DOID:630 genetic disease ISO RGD:1322500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:732118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:0112268 nephrotic syndrome type 22 ISO RGD:732118 D RGD:7240710 20210203 OMIM 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:0112268 nephrotic syndrome type 22 ISO RGD:732118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 22 PMID:25741868|PMID:28492532|PMID:33523862 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:11446 sciatic neuropathy IEP D RGD:7327169|PMID:17768032 20130913 RGD mRNA:increased expression:sciatic nerve 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:1540 parathyroid carcinoma ISO RGD:732118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:1596 depressive disorder treatment IDA D RGD:7327168|PMID:19587612 20130913 RGD 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:2843 long QT syndrome ISO RGD:732118 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:6000 congestive heart failure IEP D RGD:7327163|PMID:21831995 20130913 RGD mRNA:increased expression:brain 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:630 genetic disease ISO RGD:732118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:9001627 Pathologic Constriction IEP D RGD:5131967|PMID:20202870 20130913 RGD mRNA, protein:increased expression, alternative form:sciatic nerve 620106 Nos1ap nitric oxide synthase 1 adaptor protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732118 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620107 Numb NUMB, endocytic adaptor protein gene DOID:1059 intellectual disability ISO RGD:1348962 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 620107 Numb NUMB, endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1348962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732737 D RGD:153002579|PMID:19198856 20220719 RGD protein:increased expression:colorectal mucosa (human) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732737 D RGD:11085507|PMID:25823027 20220719 RGD human gene and cell line in a mouse model 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732737 D RGD:153002577|PMID:19277704 20220719 RGD protein:increased expression:colorectum, myofibroblast cell, cytoplasm (human) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:10283 prostate cancer ISO RGD:732737 D RGD:5688351|PMID:20166126 20120228 RGD mRNA:increased expression:prostate (human) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:10534 stomach cancer ISO RGD:732737 D RGD:153002574|PMID:32489143 20220719 RGD protein:increased expression:stomach (human) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:11612 polycystic ovary syndrome IDA D RGD:152985548|PMID:29535146 20220607 RGD 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:732737 D RGD:153002575|PMID:25664849 20220719 RGD human cells in mouse model 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732737 D RGD:153002581|PMID:23144319 20220719 RGD DNA:SNPs:introns: (rs2926702, rs11993276) (human) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:732737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732738 D RGD:153002573|PMID:28273073 20220719 RGD 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732738 D RGD:153002576|PMID:22556267 20220719 RGD 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:732737 D RGD:153002578|PMID:22011668 20220719 RGD protein:increased expression:mesothelium of pleural cavity (human) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732737 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732737 D RGD:8693397|PMID:23759327 20140715 RGD 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:9004702 Pregnancy Complications IEP D RGD:5688349|PMID:20660062 20120228 RGD mRNA:decreased expression:uterus (rat) 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:732738 D RGD:153002580|PMID:27432117 20220719 RGD 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732737 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 620108 Ncoa2 nuclear receptor coactivator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732737 D RGD:9590334|PMID:12676584 20141125 RGD human gene in a mouse model;DNA:translocation:exon 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344181 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:33326993|PMID:34652575 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1344181 D RGD:5688351|PMID:20166126 20120228 RGD mRNA:increased expression:prostate (human) 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:1240 leukemia ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365708|PMID:19433130 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:1612 breast cancer IDA D RGD:5688283|PMID:20051871 20120224 RGD 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:2234 focal epilepsy ISO RGD:1344181 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:299 adenocarcinoma ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:3069 malignant astrocytoma ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:3459 breast carcinoma severity ISO RGD:1344181 D RGD:2289908|PMID:12725419 20120222 RGD protein:increased expression:breast (human) 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:630 genetic disease ISO RGD:1344181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11927493|PMID:12237244 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:9004389 Bone Neoplasms ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24134957 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1344181 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 620109 Ncoa3 nuclear receptor coactivator 3 gene DOID:9970 obesity ISO RGD:1344181 D RGD:1642050|PMID:14557830 20070829 RGD 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732872 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:7240710 20130221 OMIM 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome PMID:25741868 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732872 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:630 genetic disease ISO RGD:732872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 62011 Igbp1 immunoglobulin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 620110 Zic1 Zic family member 1 gene DOID:0050777 Joubert syndrome ISS RGD:735695 D RGD:13592920 20180518 MouseDO 620110 Zic1 Zic family member 1 gene DOID:2340 craniosynostosis ISO RGD:735694 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620110 Zic1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735694 D RGD:1599905|PMID:15338008 20070221 RGD 620110 Zic1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISS RGD:735695 D RGD:13592920 20180518 MouseDO OMIM:220200 620110 Zic1 Zic family member 1 gene DOID:630 genetic disease ISO RGD:735694 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620110 Zic1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:7240710 20200226 OMIM 620110 Zic1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis PMID:26340333|PMID:30391508 620110 Zic1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:7240710 20170301 OMIM 620110 Zic1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 6 PMID:25741868|PMID:26340333 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:0050700 cardiomyopathy ISO RGD:735678 D RGD:158014899|PMID:26029872 20230321 RGD 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:12930 dilated cardiomyopathy ISS RGD:735678 D RGD:13592920 20190221 MouseDO 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:1324 lung cancer ISO RGD:735677 D RGD:9590137|PMID:10567404 20141114 RGD DNA:amplification:cds (human) 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:1612 breast cancer ISO RGD:735677 D RGD:9590137|PMID:10567404 20141114 RGD DNA:amplification:cds (human) 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:219 colon cancer ISO RGD:735677 D RGD:9590137|PMID:10567404 20141114 RGD DNA:amplification:cds (human) 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:2843 long QT syndrome ISO RGD:735677 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:289 endometriosis ISO RGD:735677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:630 genetic disease ISO RGD:735677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620111 Ncoa6 nuclear receptor coactivator 6 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:9590126|PMID:16738321 20141113 RGD mRNA:decreased expression:pancreatic islet (rat) 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:0080074 neural tube defect ISO RGD:734121 D RGD:734781|PMID:11823447 19990101 RGD 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:734120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:7240710 20140903 OMIM 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:16287139|PMID:25741868 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:14566 disease of cellular proliferation ISO RGD:734120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21660965 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:1657 ventricular septal defect ISO RGD:734120 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:1681 heart septal defect ISO RGD:734120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16287139 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:1682 congenital heart disease ISO RGD:734121 D RGD:734781|PMID:11823447 19990101 RGD 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:2316 brain ischemia IEP D RGD:1581188|PMID:16434029 19990101 RGD 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:3347 osteosarcoma IAGP D RGD:5147850|PMID:19825367 20110825 RGD DNA:deletion (rat) 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:630 genetic disease ISO RGD:734120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:6419 tetralogy of Fallot ISS RGD:734121 D RGD:13592920 20180518 MouseDO OMIM:187500 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:767 muscular atrophy ISO RGD:734120 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19032942 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:9005639 Mandibular Fractures IEP D RGD:5147852|PMID:19607804 20110825 RGD mRNA:decreased expression:bone 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:7240710 20140903 OMIM 620112 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 2 PMID:16287139 620113 Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354399 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620113 Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 gene DOID:630 genetic disease ISO RGD:1354399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620114 Rab27b RAB27B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:732208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620114 Rab27b RAB27B, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:732208 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 620114 Rab27b RAB27B, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISS RGD:1553220 D RGD:13592920 20180518 MouseDO OMIM:185050 620114 Rab27b RAB27B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620114 Rab27b RAB27B, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:732208 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 620114 Rab27b RAB27B, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732208 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 620117 Insl3 insulin-like 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 620117 Insl3 insulin-like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14687758|PMID:16102138 620117 Insl3 insulin-like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:1600162|PMID:12601553 20070301 RGD idiopathic cryptorchidism, OMIM:219050 620117 Insl3 insulin-like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:7240710 20130221 OMIM 620117 Insl3 insulin-like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:11095425|PMID:11746019|PMID:12601553|PMID:12970298|PMID:25741868 620117 Insl3 insulin-like 3 gene DOID:630 genetic disease ISO RGD:736797 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11095425 620117 Insl3 insulin-like 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:736797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 620117 Insl3 insulin-like 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:736797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 620119 Fntb farnesyltransferase, CAAX box, beta gene DOID:630 genetic disease ISO RGD:736901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620119 Fntb farnesyltransferase, CAAX box, beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736901 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 62012 Syt6 synaptotagmin 6 gene DOID:0080690 RASopathy ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 62012 Syt6 synaptotagmin 6 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 62012 Syt6 synaptotagmin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:737166 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 62012 Syt6 synaptotagmin 6 gene DOID:630 genetic disease ISO RGD:737166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62012 Syt6 synaptotagmin 6 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:737166 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:28492532 620122 Chl1 cell adhesion molecule L1-like gene DOID:1059 intellectual disability ISO RGD:1346370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12812975 620122 Chl1 cell adhesion molecule L1-like gene DOID:12849 autistic disorder ISO RGD:1346370 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620122 Chl1 cell adhesion molecule L1-like gene DOID:1826 epilepsy ISO RGD:1346370 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 620122 Chl1 cell adhesion molecule L1-like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11986985|PMID:15653271 620122 Chl1 cell adhesion molecule L1-like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:1358505|PMID:11986985 19990101 RGD 620122 Chl1 cell adhesion molecule L1-like gene DOID:630 genetic disease ISO RGD:1346370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620122 Chl1 cell adhesion molecule L1-like gene DOID:9000039 Spinal Cord Injuries IEP D RGD:6483045|PMID:21337374 20120511 RGD protein:increased expression:spinal cord (rat) 620122 Chl1 cell adhesion molecule L1-like gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:6483040|PMID:21452236 20120510 RGD mRNA, protein:increased expression:dorsal root ganglia (rat) 620122 Chl1 cell adhesion molecule L1-like gene DOID:9001240 Peripheral Nerve Injuries IMP D RGD:6483040|PMID:21452236 20120510 RGD 620122 Chl1 cell adhesion molecule L1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346370 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620123 Icos inducible T-cell co-stimulator gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1344621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 620123 Icos inducible T-cell co-stimulator gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:1344621 D RGD:11344917|PMID:19020530 20160708 RGD DNA:SNPs,haplotype: :rs4521021,rs10172036(human) 620123 Icos inducible T-cell co-stimulator gene DOID:0060180 colitis IEP D RGD:1624274|PMID:14731127 20070507 RGD protein:increased expression:T-cell 620123 Icos inducible T-cell co-stimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:7240710 20190710 OMIM 620123 Icos inducible T-cell co-stimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:11956294|PMID:12353035|PMID:12577056|PMID:15507387|PMID:16199547|PMID:17576681|PMID:19380800|PMID:20817864|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257|PMID:31858365|PMID:32499645|PMID:9536098 620123 Icos inducible T-cell co-stimulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620123 Icos inducible T-cell co-stimulator gene DOID:10608 celiac disease susceptibility ISO RGD:1344621 D RGD:11344917|PMID:19020530 20160708 RGD DNA:SNP,haplotype: :rs10932037(human) 620123 Icos inducible T-cell co-stimulator gene DOID:12177 common variable immunodeficiency ISO RGD:1344621 D RGD:11554173 20190716 CTD CTD Direct Evidence: marker/mechanism 620123 Icos inducible T-cell co-stimulator gene DOID:13141 uveitis IEP D RGD:1624269|PMID:16601981 20070507 RGD protein:increased expression:spleen, lymph node, retina 620123 Icos inducible T-cell co-stimulator gene DOID:14557 primary pulmonary hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 620123 Icos inducible T-cell co-stimulator gene DOID:2349 arteriosclerosis ISO RGD:732863 D RGD:1624268|PMID:17060381 20070507 RGD 620123 Icos inducible T-cell co-stimulator gene DOID:612 primary immunodeficiency disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645 620123 Icos inducible T-cell co-stimulator gene DOID:630 genetic disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620123 Icos inducible T-cell co-stimulator gene DOID:820 myocarditis IDA D RGD:1624275|PMID:12829180 20070507 RGD 620123 Icos inducible T-cell co-stimulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1344621 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620123 Icos inducible T-cell co-stimulator gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:732863 D RGD:1624276|PMID:12421962 20070507 RGD 620123 Icos inducible T-cell co-stimulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344621 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620123 Icos inducible T-cell co-stimulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620124 Tsc1 TSC complex subunit 1 gene DOID:0050562 West syndrome ISO RGD:736947 D RGD:11554173 20180605 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 620124 Tsc1 TSC complex subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:21309039|PMID:22161988|PMID:22558107|PMID:22703879|PMID:23514105|PMID:23857276|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:0060041 autism spectrum disorder ISS RGD:733994 D RGD:13592920 20190516 MouseDO 620124 Tsc1 TSC complex subunit 1 gene DOID:0060564 spinal disease ISS RGD:733994 D RGD:13592920 20220609 MouseDO 620124 Tsc1 TSC complex subunit 1 gene DOID:0060648 anterior segment dysgenesis ISS RGD:733994 D RGD:13592920 20191010 MouseDO 620124 Tsc1 TSC complex subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 620124 Tsc1 TSC complex subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:7240710 20131030 OMIM 620124 Tsc1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11281455|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14597398|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16225402|PMID:16554133|PMID:16981987|PMID:17287951|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19763152|PMID:19918125|PMID:20082901|PMID:20165957|PMID:20185476|PMID:20307669|PMID:20399389|PMID:20547222|PMID:20633017|PMID:20877415|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22406018|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23647917|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24271014|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25640679|PMID:25722345|PMID:25741868|PMID:25782670|PMID:25889454|PMID:25900779|PMID:25927202|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27174333|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28623545|PMID:28968464|PMID:29045506|PMID:29052576|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30182498|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31911633|PMID:32005694|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32368696|PMID:32461669|PMID:32555378|PMID:32655475|PMID:32917966|PMID:33181865|PMID:33532864|PMID:34008892|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 treatment ISO RGD:736947 D RGD:11570507|PMID:26019056 20161215 RGD 620124 Tsc1 TSC complex subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 620124 Tsc1 TSC complex subunit 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:733994 D RGD:13592920 20180518 MouseDO OMIM:263200 620124 Tsc1 TSC complex subunit 1 gene DOID:10126 keratoconus ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 620124 Tsc1 TSC complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:736947 D RGD:11535605|PMID:26408672 20161215 RGD associated with Tuberous Sclerosis;DNA:frameshift mutations 620124 Tsc1 TSC complex subunit 1 gene DOID:1074 kidney failure ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal failure PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 620124 Tsc1 TSC complex subunit 1 gene DOID:11054 urinary bladder cancer ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18772611|PMID:18830229|PMID:19139070|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21811971|PMID:22490766|PMID:22703879|PMID:22707517|PMID:22923433|PMID:23254740|PMID:23401075|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25741868|PMID:25889454|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:29221145|PMID:29655203|PMID:29932062|PMID:32211034|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:733994 D RGD:11570511|PMID:21403402 20161215 RGD 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:11062248|PMID:16114042 20161215 RGD DNA:deletions, duplication, point mutation:exon, intron:multiple 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:11073512|PMID:25900779 20161215 RGD DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human) 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18345974|PMID:21062901|PMID:21345208 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:1624196|PMID:9242607 20070503 RGD DNA:nonsense mutations, deletion: :multiple 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20185476|PMID:20399389|PMID:20498439|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28291513|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29432982|PMID:29458892|PMID:29655203|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30548481|PMID:30581017|PMID:31525612|PMID:31664448|PMID:31855466|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32555378|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis susceptibility ISO RGD:736947 D RGD:9068941 20200609 RGD DNA:nonsense mutations, deletion: :multiple PMID:9242607|REF_RGD_ID:1624196 620124 Tsc1 TSC complex subunit 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736947 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:1561 cognitive disorder ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 620124 Tsc1 TSC complex subunit 1 gene DOID:1612 breast cancer ISO RGD:736947 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:12111193|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18772611|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736947 D RGD:11568707|PMID:15951164 20161213 RGD mRNA:decreased expression:breast 620124 Tsc1 TSC complex subunit 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 620124 Tsc1 TSC complex subunit 1 gene DOID:1826 epilepsy ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12112044|PMID:21062901 620124 Tsc1 TSC complex subunit 1 gene DOID:1826 epilepsy ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10227394|PMID:10363127|PMID:10533067|PMID:11112665|PMID:12015165|PMID:14756965|PMID:15798777|PMID:16981987|PMID:17304050|PMID:18032745|PMID:21520333|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29286531|PMID:32211034|PMID:32238909|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:2394 ovarian cancer ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:32211034 620124 Tsc1 TSC complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:736947 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 620124 Tsc1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32078667 620124 Tsc1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:7240710 20130221 OMIM 620124 Tsc1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11829138|PMID:12015165|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14633685|PMID:14756965|PMID:15798777|PMID:16114042|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18772611|PMID:18830229|PMID:19419980|PMID:19747374|PMID:20399389|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22903760|PMID:22923433|PMID:23254740|PMID:23401075|PMID:23514105|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26467025|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:28614114|PMID:29221145|PMID:29286531|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29932062|PMID:29960980|PMID:30842500|PMID:5279523|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:3652 Leigh disease ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:3840 craniopharyngioma ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:22161988|PMID:25741868|PMID:28492532|PMID:29684080 620124 Tsc1 TSC complex subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 620124 Tsc1 TSC complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736947 D RGD:11570509|PMID:16909113 20161215 RGD mRNA:decreased expression:brain 620124 Tsc1 TSC complex subunit 1 gene DOID:4905 pancreatic carcinoma ISO RGD:733994 D RGD:11570510|PMID:25425965 20161215 RGD 620124 Tsc1 TSC complex subunit 1 gene DOID:630 genetic disease ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499249 620124 Tsc1 TSC complex subunit 1 gene DOID:769 neuroblastoma ISO RGD:736947 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 620124 Tsc1 TSC complex subunit 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17484760 620124 Tsc1 TSC complex subunit 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:733994 D RGD:11570508|PMID:11438694 20161215 RGD 620124 Tsc1 TSC complex subunit 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:736947 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Primitive neuroectodermal tumor PMID:16554133|PMID:21309039|PMID:22703879|PMID:25077650|PMID:25741868|PMID:27153395|PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733994 D RGD:11568678|PMID:19966866 20161215 RGD 620124 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22791573|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26332594|PMID:26467025|PMID:26563443|PMID:26580448|PMID:26786560|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29458892|PMID:29706646|PMID:29740858|PMID:30093976|PMID:31856217|PMID:32211034|PMID:32238909|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31586081|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32461669|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 620124 Tsc1 TSC complex subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:733994 D RGD:1624197|PMID:15380067 20070503 RGD 620124 Tsc1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:12112044|PMID:28215400 620124 Tsc1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:7240710 20130221 OMIM 620124 Tsc1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19747374|PMID:19918125|PMID:20165957|PMID:21309039|PMID:21510812|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22995991|PMID:23254740|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25077650|PMID:25741868|PMID:25900779|PMID:26332594|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27425891|PMID:28215400|PMID:28492532|PMID:29706646|PMID:30548481|PMID:31664448|PMID:31856217|PMID:32917966|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:736947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18397877|PMID:18772611|PMID:19139070|PMID:21309039|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 620124 Tsc1 TSC complex subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26580448|PMID:28492532 620124 Tsc1 TSC complex subunit 1 gene DOID:936 brain disease ISO RGD:736947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 620124 Tsc1 TSC complex subunit 1 gene DOID:9970 obesity IDA D RGD:11570513|PMID:25807795 20161215 RGD DNA:hypermethylation:promoter 620125 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732412 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620125 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:12849 autistic disorder ISO RGD:732412 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620125 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:732412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620125 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732412 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620126 Fgf3 fibroblast growth factor 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 620126 Fgf3 fibroblast growth factor 3 gene DOID:1059 intellectual disability ISO RGD:1346722 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620126 Fgf3 fibroblast growth factor 3 gene DOID:630 genetic disease ISO RGD:1346722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620126 Fgf3 fibroblast growth factor 3 gene DOID:674 cleft palate ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 620126 Fgf3 fibroblast growth factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 620126 Fgf3 fibroblast growth factor 3 gene DOID:9000955 Acute Otitis Media ISO RGD:732330 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 620126 Fgf3 fibroblast growth factor 3 gene DOID:9001349 Stomatognathic Diseases ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 620126 Fgf3 fibroblast growth factor 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620126 Fgf3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:7240710 20130221 OMIM 620126 Fgf3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) PMID:17236138|PMID:18435799|PMID:19950373|PMID:21306635|PMID:21480479|PMID:22993869|PMID:25741868|PMID:28492532|PMID:31336982|PMID:33187236 620126 Fgf3 fibroblast growth factor 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620126 Fgf3 fibroblast growth factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 620126 Fgf3 fibroblast growth factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 620126 Fgf3 fibroblast growth factor 3 gene DOID:9296 cleft lip ISO RGD:1346722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 620127 Fgf4 fibroblast growth factor 4 gene DOID:1059 intellectual disability ISO RGD:1343486 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620127 Fgf4 fibroblast growth factor 4 gene DOID:630 genetic disease ISO RGD:1343486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620127 Fgf4 fibroblast growth factor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1343486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 620127 Fgf4 fibroblast growth factor 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620127 Fgf4 fibroblast growth factor 4 gene DOID:9004883 Pilonidal Sinus ISO RGD:12382382 D RGD:9068941 20220922 OMIA Dermoid sinus PMID:10713979|PMID:11002937|PMID:1481220|PMID:15736812|PMID:16573760|PMID:17422670|PMID:17906623|PMID:17906626|PMID:18704695|PMID:24593884|PMID:256350|PMID:26401330|PMID:2642687|PMID:33025601|PMID:35067986|PMID:35150843|PMID:4919487|PMID:5951011|PMID:7603060 620127 Fgf4 fibroblast growth factor 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620127 Fgf4 fibroblast growth factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1343486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 620128 Ilkap ILK associated serine/threonine phosphatase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 620128 Ilkap ILK associated serine/threonine phosphatase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 620128 Ilkap ILK associated serine/threonine phosphatase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:731849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 620128 Ilkap ILK associated serine/threonine phosphatase gene DOID:1059 intellectual disability ISO RGD:731849 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620128 Ilkap ILK associated serine/threonine phosphatase gene DOID:630 genetic disease ISO RGD:731849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620128 Ilkap ILK associated serine/threonine phosphatase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 620129 Fgf5 fibroblast growth factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1350517 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 620129 Fgf5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:7240710 20170419 OMIM 620129 Fgf5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:8554872 20170425 ClinVar ClinVar Annotator: match by term: Trichomegaly PMID:24989505 620129 Fgf5 fibroblast growth factor 5 gene DOID:630 genetic disease ISO RGD:1350517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620129 Fgf5 fibroblast growth factor 5 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 62013 Syt7 synaptotagmin 7 gene DOID:0050773 paraganglioma ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 62013 Syt7 synaptotagmin 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 62013 Syt7 synaptotagmin 7 gene DOID:1059 intellectual disability ISO RGD:736086 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62013 Syt7 synaptotagmin 7 gene DOID:2661 myoepithelioma ISO RGD:736086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 62013 Syt7 synaptotagmin 7 gene DOID:630 genetic disease ISO RGD:736086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62013 Syt7 synaptotagmin 7 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 620130 Fgf6 fibroblast growth factor 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732549 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 620130 Fgf6 fibroblast growth factor 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:732549 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620130 Fgf6 fibroblast growth factor 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 620130 Fgf6 fibroblast growth factor 6 gene DOID:630 genetic disease ISO RGD:732549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620130 Fgf6 fibroblast growth factor 6 gene DOID:8634 prostate carcinoma in situ ISO RGD:732549 D RGD:2301089|PMID:2289066 20080925 RGD protein:increased expression:prostate gland 620130 Fgf6 fibroblast growth factor 6 gene DOID:9000955 Acute Otitis Media ISO RGD:1557013 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 620130 Fgf6 fibroblast growth factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732549 D RGD:2289066|PMID:10945637 20080118 RGD 620130 Fgf6 fibroblast growth factor 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732549 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:0080600 COVID-19 severity ISO RGD:737289 D RGD:30309957|PMID:32456948 20200624 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:12849 autistic disorder ISO RGD:737289 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:5419 schizophrenia ISO RGD:737289 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:7998 hyperthyroidism IEP D RGD:4105460|PMID:3422549 20100707 RGD protein:decreased activity:liver, mitochondrion (rat) 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2326100|PMID:3548709 20100624 RGD protein:decreased activity:heart, mitochondrion (rat) 620131 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:0050692 Brody myopathy ISO RGD:1603671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1603671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603671 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:5419 schizophrenia ISO RGD:1603671 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1603671 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1603671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 620132 Sh2b1 SH2B adaptor protein 1 gene DOID:9970 obesity ISO RGD:1603671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 620133 Cib1 calcium and integrin binding 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 620133 Cib1 calcium and integrin binding 1 gene DOID:10652 Alzheimer's disease IEP D RGD:10401854|PMID:15885068 20151008 RGD protein:decreased expression:brain (human) 620133 Cib1 calcium and integrin binding 1 gene DOID:12858 Huntington's disease ISO RGD:732229 D RGD:10401859|PMID:24324398 20151008 RGD mRNA:increased expression:head of caudate nucleus (mouse) 620133 Cib1 calcium and integrin binding 1 gene DOID:2717 Bloom syndrome ISO RGD:732228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620133 Cib1 calcium and integrin binding 1 gene DOID:630 genetic disease ISO RGD:732228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620133 Cib1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:7240710 20190315 OMIM 620133 Cib1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 PMID:19702156|PMID:20982046|PMID:21196704|PMID:228581|PMID:28492532|PMID:28646613|PMID:30068544 620133 Cib1 calcium and integrin binding 1 gene DOID:9256 colorectal cancer ISO RGD:732228 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620134 Zmat3 zinc finger, matrin type 3 gene DOID:0111546 Currarino syndrome ISO RGD:1602466 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 620134 Zmat3 zinc finger, matrin type 3 gene DOID:10283 prostate cancer ISO RGD:1602466 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620134 Zmat3 zinc finger, matrin type 3 gene DOID:630 genetic disease ISO RGD:1602466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620134 Zmat3 zinc finger, matrin type 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1602466 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17234339 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1350921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1350921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:0111546 Currarino syndrome ISO RGD:1350921 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:12849 autistic disorder ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31104773 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1350921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:7240710 20191002 OMIM 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures PMID:25741868|PMID:28492532|PMID:31104773 620135 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350921 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:0060222 Scheie syndrome ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8401515|PMID:8664897|PMID:9427149|PMID:9748610|PMID:9787109 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:7240710 20190315 OMIM 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:0080653 urolithiasis ISO RGD:736905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19002488|PMID:20160351 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29282708|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8213840|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24798265|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29843745|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:736905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:12802 mucopolysaccharidosis I ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16199547|PMID:16438163|PMID:17407067|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21176924|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21734815|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24781210|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29843745|PMID:30755342|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:1856 cherubism ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:3082 interstitial lung disease ISO RGD:736905 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:585 nephrolithiasis ISO RGD:736905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:630 genetic disease ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15300847|PMID:23465405|PMID:25741868|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:736905 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:9004912 Hyperoxaluria ISO RGD:736905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 620136 Slc26a1 solute carrier family 26 member 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:736905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:0080855 Parkinsonism IMP D RGD:4891964|PMID:19368990 20110125 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1352124 D RGD:4892014|PMID:17264819 20110127 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:0110024 age related macular degeneration 12 ISO RGD:1352124 D RGD:7240710 20171011 OMIM 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:10754 otitis media susceptibility ISO RGD:1352124 D RGD:9491764|PMID:24718616 20140910 RGD DNA:missense mutation:cds:p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:10762 portal hypertension IEP D RGD:9491791|PMID:21347560 20140912 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11382 corneal neovascularization ISO RGD:1552004 D RGD:9365153|PMID:18322241 20140825 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy IEP D RGD:1358720|PMID:15341587 20150304 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:1552004 D RGD:9354422|PMID:20524966 20140825 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy treatment IEP D RGD:9491396|PMID:20921832 20140909 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11563 retinal vasculitis ISO RGD:1352124 D RGD:9491394|PMID:16799040 20140909 RGD DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552004 D RGD:4892016|PMID:16424189 20110127 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1552004 D RGD:4892018|PMID:12941892 20110127 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:13141 uveitis IEP D RGD:4891945|PMID:19648777 20110124 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1556 arthus reaction ISO RGD:1552004 D RGD:9068463|PMID:23470165 20140819 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1679 cystitis IEP D RGD:4891972|PMID:16651033 20110125 RGD protein:increased expression:urinary bladder urothelium 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1686 glaucoma ISO RGD:1552004 D RGD:9384823|PMID:24989686 20140825 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1824 status epilepticus treatment IMP D RGD:9491789|PMID:21481949 20140912 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1936 atherosclerosis ISO RGD:1552004 D RGD:9479739|PMID:23887641 20140905 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:224 transient cerebral ischemia IEP D RGD:9491776|PMID:24447880 20140911 RGD mRNA,protein:decreased expression:hippocampus 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1552004 D RGD:4891900|PMID:12600915 20110119 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2527 nephrosis IEP D RGD:4891946|PMID:19590241 20110124 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1352124 D RGD:4891895|PMID:17082760 20110119 RGD DNA:SNPs: :p.V249I, rs2669849 (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1552004 D RGD:4891882|PMID:21037587 20110119 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma no_association ISO RGD:1352124 D RGD:4891904|PMID:17505143 20110119 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis IEP D RGD:4891995|PMID:14605272 20110126 RGD mRNA:increased expression:glomerulus 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis IMP D RGD:4892027|PMID:10432400 20110127 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352124 D RGD:9491761|PMID:15131578 20140910 RGD protein:decreased expression:blood, leukocyte 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1552004 D RGD:9491393|PMID:24821910 20140909 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:3612 retinitis ISO RGD:1552004 D RGD:8661224|PMID:24142887 20140610 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:4891896|PMID:16584113 20110119 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:4891898|PMID:15608300 20110119 RGD protein:increased expression:lung, skin 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1552004 D RGD:9479741|PMID:23142052 20140905 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9479078|PMID:15944936 20140826 RGD DNA:missense mutation:cds:p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9491390|PMID:15208270 20140909 RGD DNA:missense mutations:cds:p.V249I, p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9491395|PMID:22816662 20140909 RGD DNA:missense mutation:cds:p.V249I (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1552004 D RGD:9491385|PMID:17652758 20140909 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9491392|PMID:25050486 20140909 RGD DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9491395|PMID:22816662 20140909 RGD DNA:missense mutation:cds:p.V249I (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:4891946|PMID:19590241 20110124 RGD mRNA, protein:increased expression:glomerulus 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4992 optic nerve glioma onset ISO RGD:1552004 D RGD:9491391|PMID:23424002 20140909 RGD associated with Neurofibromatosis 1 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:5154 borna disease IEP D RGD:4891998|PMID:12053272 20110126 RGD mRNA:increased expression:brain 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6000 congestive heart failure IEP D RGD:9491792|PMID:24036597 20140912 RGD mRNA, protein:increased expression: paraventricular nucleus of hypothalamus 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6195 conjunctivitis ISO RGD:1552004 D RGD:9491751|PMID:22692452 20140910 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1352124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension IEP D RGD:4891893|PMID:17182651 20110119 RGD mRNA, protein:increased expression:lung 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1352124 D RGD:4891896|PMID:16584113 20110119 RGD associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:649 prion disease IEP D RGD:4892001|PMID:11870871 20110126 RGD protein:increased expression:microglial cell 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1352124 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1552004 D RGD:9479077|PMID:22545116 20140826 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:8893 psoriasis ISO RGD:1352124 D RGD:9491384|PMID:17002687 20140909 RGD DNA:SNP, missense mutation:intron, cds: , p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:900 hepatopulmonary syndrome treatment IMP D RGD:9491778|PMID:22659346 20140911 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:4891901|PMID:11532900 20110119 RGD DNA:polymorphism: :p.V249I (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 1 PMID:25741868 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000641 Pain IMP D RGD:4892020|PMID:20736819 20110127 RGD associated with Bone Neoplasms 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1352124 D RGD:4892015|PMID:16627550 20110127 RGD associated with Breast Neoplasms 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9001341 Chloracne ISO RGD:1352124 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia IEP D RGD:9491779|PMID:22647647 20140911 RGD associated with Arthritis, Experimental;protein:increased expression:lumbar spinal cord 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia IMP D RGD:4891942|PMID:19959384 20110124 RGD associated with Sciatic Neuropathy 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia IMP D RGD:4892020|PMID:20736819 20110127 RGD associated with Bone Neoplasms 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia IMP D RGD:9387859|PMID:16324111 20140825 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:4891885|PMID:20609517 20110119 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9354422|PMID:20524966 20140825 RGD associated with Inflammation 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:4891969|PMID:17123734 20110125 RGD protein:increased expression:spinal cord 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:4892002|PMID:11465708 20110126 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4891973|PMID:16053521 20110125 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:9491767|PMID:24706865 20140910 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552004 D RGD:8661752|PMID:22377584 20140909 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1352124 D RGD:4144897|PMID:19733456 20110127 RGD protein:increased expression:lung, macrophage 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1552004 D RGD:9491762|PMID:24781382 20140910 RGD mRNA, protein:increased expression:cochlea 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005070 Microscopic Polyangiitis ISO RGD:1352124 D RGD:9491765|PMID:19327232 20140910 RGD protein:increased expression:blood, T cell 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation IEP D RGD:9491768|PMID:23110394 20140910 RGD associated with Temporomandibular Joint Disorders 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:1552004 D RGD:9375525|PMID:23299473 20140825 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552004 D RGD:8661636|PMID:20836883 20140909 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4891992|PMID:15153757 20110126 RGD mRNA:increased expression:kidney 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis IEP D RGD:9479740|PMID:16030495 20140905 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552004 D RGD:9491397|PMID:19689733 20140909 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis IEP D RGD:9491783|PMID:12028445 20141015 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:4891907|PMID:21224760 20110119 RGD protein:increased expression:spinal cord 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:4891968|PMID:18448252 20110125 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:4891891|PMID:18257903 20110119 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:4891905|PMID:16645504 20110119 RGD DNA:SNP: :p.T280M (human) 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352124 D RGD:4892017|PMID:15786508 20140910 RGD protein:decreased expression:blood, monocyte 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9008023 Memory Disorders IMP D RGD:9491766|PMID:23855980 20140910 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1352124 D RGD:6893428|PMID:21180278 20140909 RGD mRNA:increased expression:blood, mononuclear cell 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9351 diabetes mellitus ISO RGD:1552004 D RGD:9491759|PMID:23307960 20140910 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9477 pulmonary embolism treatment IEP D RGD:9491777|PMID:23578461 20140911 RGD 620137 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9970 obesity ISO RGD:1352124 D RGD:4891903|PMID:20523302 20110119 RGD DNA:SNP: :p.T280M (human) 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:731000 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:731000 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0080690 RASopathy ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0081330 glycogen storage disease Ib ISO RGD:731000 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:7240710 20130425 OMIM 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22476154|PMID:22549091|PMID:23158016|PMID:24001973|PMID:24033266|PMID:24216686|PMID:24813381|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26193622|PMID:26822028|PMID:27699570|PMID:28267044|PMID:28492532|PMID:28930861|PMID:29140941|PMID:29248579|PMID:29531467|PMID:30212871|PMID:30894704|PMID:33359885|PMID:8490660|PMID:9536098 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111123 nephronophthisis 15 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:1059 intellectual disability ISO RGD:731000 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:731000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:731000 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2316323|PMID:12620647 20100205 RGD 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731000 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:731000 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620138 Il10ra interleukin 10 receptor subunit alpha gene DOID:9146 visceral leishmaniasis ISO RGD:731000 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15716043 620139 Chn1 chimerin 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732086 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 620139 Chn1 chimerin 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732086 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 620139 Chn1 chimerin 1 gene DOID:12557 Duane retraction syndrome ISO RGD:732086 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism 620139 Chn1 chimerin 1 gene DOID:12557 Duane retraction syndrome ISO RGD:732086 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 620139 Chn1 chimerin 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732086 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 620139 Chn1 chimerin 1 gene DOID:630 genetic disease ISO RGD:732086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18653847 620139 Chn1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:7240710 20200304 OMIM 620139 Chn1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 2 PMID:10577917|PMID:10942112|PMID:17197532|PMID:18653847|PMID:20535495|PMID:21555619|PMID:25741868|PMID:28492532 62014 Nxf1 nuclear RNA export factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 62014 Nxf1 nuclear RNA export factor 1 gene DOID:1059 intellectual disability ISO RGD:737301 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62014 Nxf1 nuclear RNA export factor 1 gene DOID:630 genetic disease ISO RGD:737301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620140 Chn2 chimerin 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1350256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 620140 Chn2 chimerin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350256 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620140 Chn2 chimerin 2 gene DOID:5419 schizophrenia ISO RGD:1350256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 620140 Chn2 chimerin 2 gene DOID:630 genetic disease ISO RGD:1350256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620140 Chn2 chimerin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350256 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 620141 Ivl involucrin gene DOID:0111940 immunodeficiency 42 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620141 Ivl involucrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620141 Ivl involucrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620141 Ivl involucrin gene DOID:1540 parathyroid carcinoma ISO RGD:1314662 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620141 Ivl involucrin gene DOID:1749 squamous cell carcinoma ISO RGD:1314662 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 620141 Ivl involucrin gene DOID:5812 MHC class II deficiency ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620141 Ivl involucrin gene DOID:630 genetic disease ISO RGD:1314662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620141 Ivl involucrin gene DOID:9004464 Skin Neoplasms ISO RGD:1314662 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 620141 Ivl involucrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314662 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620142 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620142 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0080773 delta beta-thalassemia ISO RGD:735581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 620142 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620142 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:630 genetic disease ISO RGD:735581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620143 Pitpnb phosphatidylinositol transfer protein, beta gene DOID:630 genetic disease ISO RGD:736239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:734274 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10330344|PMID:10443680|PMID:10861667|PMID:11139246|PMID:11159935|PMID:11719521|PMID:20301726|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32807182 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:11554173 20180123 CTD CTD Direct Evidence: marker/mechanism 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:5684543|PMID:19651702 20111222 RGD DNA:mutations: : 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:5684544|PMID:19250380 20111222 RGD DNA:mutations: : 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:5684767|PMID:20647579 20111230 RGD DNA:insertion: :c.2086_2087insC (human) 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:5684769|PMID:18322713 20120103 RGD DNA:mutations:cds, splice junction: 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:5684770|PMID:18077166 20120103 RGD DNA:mutations: : 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:11668614 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:734274 D RGD:5144120|PMID:17667845 20110729 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0060180 colitis IEP D RGD:5684542|PMID:20638179 20111222 RGD mRNA, protein:increased expression:neuron 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:7240710 20180117 OMIM 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis PMID:10090906|PMID:10233776|PMID:10330344|PMID:10443680|PMID:10861667|PMID:10982191|PMID:11071380|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12210794|PMID:12406349|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:17576681|PMID:18056464|PMID:18162686|PMID:18179783|PMID:18322713|PMID:18955016|PMID:19250380|PMID:19598235|PMID:19618435|PMID:19651702|PMID:20003389|PMID:20301726|PMID:20647579|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22397633|PMID:22653642|PMID:22957891|PMID:23112235|PMID:23241418|PMID:233776|PMID:23799134|PMID:24088041|PMID:24154508|PMID:24631696|PMID:25359976|PMID:25519000|PMID:25640679|PMID:25741868|PMID:26215504|PMID:26467025|PMID:26633545|PMID:26925801|PMID:27058611|PMID:27265460|PMID:27544236|PMID:27551041|PMID:27676246|PMID:27698470|PMID:27761255|PMID:28177573|PMID:28192073|PMID:28328124|PMID:28345382|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29190530|PMID:29619836|PMID:29770739|PMID:30002500|PMID:30774415|PMID:31130284|PMID:32214227|PMID:32219930|PMID:32707409|PMID:32807182|PMID:32901917|PMID:33422294|PMID:33748046|PMID:3472625|PMID:77656|PMID:8696348|PMID:9536098 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:734274 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10487 Hirschsprung's disease ISO RGD:734274 D RGD:5684546|PMID:8943115 20111222 RGD protein:altered expression:intestine 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1059 intellectual disability ISO RGD:734274 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27551041|PMID:27698470|PMID:28492532|PMID:32707409|PMID:77656 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27265460|PMID:27551041|PMID:27676246|PMID:27698470|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29770739|PMID:32219930|PMID:32707409|PMID:3472625|PMID:77656 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:734274 D RGD:5508228|PMID:18780967 20111011 RGD early onset sporadic AD; DNA:SNP:CDS:rs6336 (human) 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:734274 D RGD:5684531|PMID:21397006 20111221 RGD mRNA:decreased expression:brain 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:12217 Lewy body dementia ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:734274 D RGD:4891110|PMID:16315781 20120103 RGD protein:increased expression: : 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:734274 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma IDA D RGD:5508695|PMID:20943663 20120827 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma IEP D RGD:5684379|PMID:18817846 20111216 RGD mRNA,protein:decreased expression:eye 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734274 D RGD:5508229|PMID:16704535 20111011 RGD mRNA:increased expression:tumor:associated with increased tumor aggressiveness (human) 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2468 psychotic disorder ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma IEP D RGD:5684772|PMID:16708804 20120103 RGD mRNA:increased expression:lung: 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:1624082 D RGD:5684766|PMID:20934630 20111230 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:289 endometriosis ISO RGD:1624082 D RGD:5684532|PMID:21385399 20111221 RGD mRNA, protein:increased expression:spinal ganglia, uterus 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734274 D RGD:5684530|PMID:21429417 20111221 RGD protein:increased expression:bronchiolar epithelial cell 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:1624082 D RGD:5684771|PMID:17223862 20120103 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:734274 D RGD:5144116|PMID:18647313 20111230 RGD protein:increased expression:eosinophil 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:431 myofascial pain syndrome IMP D RGD:5684340|PMID:21719352 20111214 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:4483 rhinitis ISO RGD:734274 D RGD:5144116|PMID:18647313 20111230 RGD protein:increased expression:eosinophil 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5327 retinal detachment IEP D RGD:5684405|PMID:18097183 20111219 RGD protein:increased expression:retina 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:734274 D RGD:5684534|PMID:21317683 20111221 RGD DNA:SNPs:cds:rs6336, rs6339 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734274 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:734274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330344|PMID:10982191|PMID:11159935|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12676795|PMID:12949319|PMID:16373086|PMID:18173729|PMID:19618435|PMID:19651702|PMID:23112235|PMID:23799134|PMID:25519000|PMID:25741868|PMID:26215504|PMID:26467025|PMID:27265460|PMID:27551041|PMID:27676246|PMID:28192073|PMID:28345382|PMID:28492532|PMID:29619836|PMID:29770739|PMID:30774415|PMID:32219930|PMID:32707409|PMID:32807182|PMID:35426680|PMID:8384556 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16989911 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma disease_progression ISO RGD:734274 D RGD:5684545|PMID:8433391 20111222 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:824 periodontitis IEP D RGD:5684768|PMID:20200421 20111230 RGD protein:increased expression:neuron 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2308892|PMID:18585435 20111219 RGD mRNA:decreased expression:spinal cord 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000310 Lung Injury ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20075049 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002211 Hyperalgesia IMP D RGD:5144120|PMID:17667845 20110729 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002211 Hyperalgesia IMP D RGD:5684352|PMID:20351485 20111215 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5684777|PMID:15589512 20120103 RGD mRNA:increased expression:brain subventricular zone: 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:5684358|PMID:19633950 20111215 RGD mRNA:increased expression:brain 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734274 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5144144|PMID:21136036 20110801 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:retina 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5684337|PMID:22044876 20111214 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005968 Neuralgia ISO RGD:734274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9006101 Primary Ovarian Failure ISO RGD:734274 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868|PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9008091 Optic Nerve Injuries IDA D RGD:5508695|PMID:20943663 20120827 RGD 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734274 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620144 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9743 diabetic neuropathy IEP D RGD:5508379|PMID:12469361 20111013 RGD mRNA,protein:decreased expression:dorsal root ganglia 620145 Rbm3 RNA binding motif protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350280 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620145 Rbm3 RNA binding motif protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350280 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 620145 Rbm3 RNA binding motif protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 620145 Rbm3 RNA binding motif protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350280 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 620145 Rbm3 RNA binding motif protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 620145 Rbm3 RNA binding motif protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 620145 Rbm3 RNA binding motif protein 3 gene DOID:12849 autistic disorder ISO RGD:1350280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620145 Rbm3 RNA binding motif protein 3 gene DOID:630 genetic disease ISO RGD:1350280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620145 Rbm3 RNA binding motif protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620145 Rbm3 RNA binding motif protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350280 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19734850 620146 Pkn2 protein kinase N2 gene DOID:630 genetic disease ISO RGD:1352598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620147 Sel1l SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:0050753 cerebellar ataxia ISO RGD:12228548 D RGD:9068941 20210604 OMIA Ataxia, cerebellar, progressive early-onset, SEL1L-related PMID:22719266 620147 Sel1l SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:1793 pancreatic cancer ISO RGD:1351070 D RGD:2317190|PMID:14508516 20100318 RGD 620147 Sel1l SEL1L adaptor subunit of ERAD E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1351070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:7240710 20141015 OMIM 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:25741868 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346641 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:25741868|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23395771 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1346641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:1790 malignant mesothelioma ISO RGD:1346641 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1346641 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:6039 uveal melanoma ISO RGD:1346641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23313955|PMID:23793026 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:6039 uveal melanoma ISO RGD:1346641 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:630 genetic disease ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1346641 D RGD:126790493|PMID:29954402 20210423 RGD 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1346641 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23634996|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1552266 D RGD:126790493|PMID:29954402 20210423 RGD protein:increased expression:liver 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346641 D RGD:126790494|PMID:33038489 20210423 RGD mRNA, protein:increased expression:liver 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346641 D RGD:126790494|PMID:33038489 20210423 RGD 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:8923 skin melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23634996|PMID:25741868|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346641 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158541 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:23634996|PMID:25741868|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346641 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346641 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346641 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:23634996|PMID:26619011 620148 Sf3b1 splicing factor 3b, subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346641 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:23634996|PMID:25741868|PMID:26619011 62015 Nfib nuclear factor I/B gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 62015 Nfib nuclear factor I/B gene DOID:0060041 autism spectrum disorder ISO RGD:733820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 62015 Nfib nuclear factor I/B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 62015 Nfib nuclear factor I/B gene DOID:5419 schizophrenia ISO RGD:733820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 62015 Nfib nuclear factor I/B gene DOID:630 genetic disease ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 62015 Nfib nuclear factor I/B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:7240710 20201216 OMIM 62015 Nfib nuclear factor I/B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development PMID:25741868|PMID:28492532|PMID:30388402 62015 Nfib nuclear factor I/B gene DOID:9003816 Macrocephaly ISO RGD:733820 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30388402 62015 Nfib nuclear factor I/B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733820 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62015 Nfib nuclear factor I/B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733820 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30388402 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110222 Brugada syndrome 5 ISO RGD:1354511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10283 prostate cancer ISO RGD:1354511 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease ISO RGD:1354511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease onset ISO RGD:1354511 D RGD:1358618|PMID:15507493 19990101 RGD DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:543 dystonia ISO RGD:1354511 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 620150 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:630 genetic disease ISO RGD:1354511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620151 Spag4 sperm associated antigen 4 gene DOID:630 genetic disease ISO RGD:734255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620152 Spag5 sperm associated antigen 5 gene DOID:0080600 COVID-19 ISO RGD:736242 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620152 Spag5 sperm associated antigen 5 gene DOID:4362 cervical cancer severity ISO RGD:736242 D RGD:155882439|PMID:35853859 20230117 RGD mRNA, protein:increased expression:cervix (human) 620152 Spag5 sperm associated antigen 5 gene DOID:630 genetic disease ISO RGD:736242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620152 Spag5 sperm associated antigen 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:736242 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351105 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:10283 prostate cancer ISO RGD:1351105 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:5419 schizophrenia ISO RGD:1351105 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:630 genetic disease ISO RGD:1351105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351105 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620153 Acrv1 acrosomal vesicle protein 1 gene DOID:9007661 Dwarfism ISO RGD:1351105 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620154 Spa17 sperm autoantigenic protein 17 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 620154 Spa17 sperm autoantigenic protein 17 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353517 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 620154 Spa17 sperm autoantigenic protein 17 gene DOID:3965 Merkel cell carcinoma ISO RGD:1353517 D RGD:27226803|PMID:31218705 20200526 RGD mRNA,protein:increased expression:nucleus 620154 Spa17 sperm autoantigenic protein 17 gene DOID:5419 schizophrenia ISO RGD:1353517 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620154 Spa17 sperm autoantigenic protein 17 gene DOID:630 genetic disease ISO RGD:1353517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620154 Spa17 sperm autoantigenic protein 17 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353517 D RGD:27226802|PMID:19744347 20200526 RGD associated with ovarian carcinoma;proetin:increased expression:epithelium: 620154 Spa17 sperm autoantigenic protein 17 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353517 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620154 Spa17 sperm autoantigenic protein 17 gene DOID:9007661 Dwarfism ISO RGD:1353517 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620155 Nnat neuronatin gene DOID:2234 focal epilepsy ISO RGD:730841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 620155 Nnat neuronatin gene DOID:3908 lung non-small cell carcinoma ISO RGD:730841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 620155 Nnat neuronatin gene DOID:630 genetic disease ISO RGD:730841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620155 Nnat neuronatin gene DOID:769 neuroblastoma ISO RGD:730841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17762496 620155 Nnat neuronatin gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:730841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23631430|PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 620156 Ank2 ankyrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17161064|PMID:17242276|PMID:18782775|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24448499|PMID:24828792|PMID:25351510|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26168218|PMID:26230511|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28750076|PMID:28988457|PMID:30276209|PMID:30615648|PMID:31638414|PMID:33029862 620156 Ank2 ankyrin 2 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Du pan syndrome PMID:228900|PMID:258150 620156 Ank2 ankyrin 2 gene DOID:0050824 sinoatrial node disease ISS RGD:1620669 D RGD:13592920 20180518 MouseDO 620156 Ank2 ankyrin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317291 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 620156 Ank2 ankyrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1317291 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1620669|RGD:1317291 D RGD:6767284|PMID:21859974 20120705 RGD 620156 Ank2 ankyrin 2 gene DOID:0060224 atrial fibrillation onset ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:21859974|REF_RGD_ID:6767284 620156 Ank2 ankyrin 2 gene DOID:0060319 cardiac arrest ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532|PMID:28600387|PMID:30564305 620156 Ank2 ankyrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16253912|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:28191889|PMID:28492532|PMID:30564305 620156 Ank2 ankyrin 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1317291 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:228900|PMID:258150 620156 Ank2 ankyrin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:7485162 620156 Ank2 ankyrin 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:12571597|PMID:15178757|PMID:17242276|PMID:25741868|PMID:26230511|PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:7240710 20130221 OMIM 620156 Ank2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: ANKYRIN-B SYNDROME | ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27110552|PMID:27112610|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30086531|PMID:30276209|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32746448|PMID:33004838|PMID:33029862|PMID:34088380|PMID:7485162 620156 Ank2 ankyrin 2 gene DOID:0111701 long QT syndrome 4 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17242276|PMID:18782775|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:27435932|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30615648|PMID:7485162 620156 Ank2 ankyrin 2 gene DOID:1059 intellectual disability ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23396983|PMID:25351510|PMID:25741868|PMID:28255936|PMID:28492532|PMID:30847666 620156 Ank2 ankyrin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12571597|PMID:15178757|PMID:17242276|PMID:22581653|PMID:23174487|PMID:25741868|PMID:26230511|PMID:28492532|PMID:28589536|PMID:28988457|PMID:30276209|PMID:31638414 620156 Ank2 ankyrin 2 gene DOID:12271 aniridia ISO RGD:1317291 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia 620156 Ank2 ankyrin 2 gene DOID:12849 autistic disorder ISO RGD:1317291 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior 620156 Ank2 ankyrin 2 gene DOID:12849 autistic disorder ISS RGD:1620669 D RGD:13592920 20211118 MouseDO OMIM:209850 620156 Ank2 ankyrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 620156 Ank2 ankyrin 2 gene DOID:13884 sick sinus syndrome susceptibility ISO RGD:1317291 D RGD:1599114|PMID:15178757 20070117 RGD 620156 Ank2 ankyrin 2 gene DOID:224 transient cerebral ischemia IEP D RGD:1599109|PMID:9202331 20070117 RGD 620156 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:27110552|PMID:27298202|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27854218|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:29874177|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:7485162|PMID:9536098 620156 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 620156 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 620156 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 620156 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 620156 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome susceptibility ISO RGD:1317291 D RGD:734572|PMID:12571597 20070117 RGD 620156 Ank2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28191889|PMID:28492532|PMID:32233023 620156 Ank2 ankyrin 2 gene DOID:6000 congestive heart failure ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:630 genetic disease ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15262991|PMID:16253912|PMID:17576681|PMID:18790697|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:27784853|PMID:28191889|PMID:28492532|PMID:30564305|PMID:32183154|PMID:9536098 620156 Ank2 ankyrin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:27871843|PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317291 D RGD:734572|PMID:12571597 19990101 RGD 620156 Ank2 ankyrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11334825|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25333069|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26168218|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28492532|PMID:30615648 620156 Ank2 ankyrin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317291 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11334825|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17261669|PMID:22581653|PMID:23861362|PMID:25333069|PMID:25741868|PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 620156 Ank2 ankyrin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 620156 Ank2 ankyrin 2 gene DOID:9002955 Nerve Degeneration IEP D RGD:1599116|PMID:12949909 20070117 RGD 620156 Ank2 ankyrin 2 gene DOID:9003163 Heart Block ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 620156 Ank2 ankyrin 2 gene DOID:9003516 Channelopathies ISO RGD:1317291 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Channelopathy 620156 Ank2 ankyrin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317291 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 620156 Ank2 ankyrin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317291 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 620156 Ank2 ankyrin 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:7485162 620156 Ank2 ankyrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 620156 Ank2 ankyrin 2 gene DOID:9005444 Torsades de Pointes ISO RGD:1317291 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653 620156 Ank2 ankyrin 2 gene DOID:9006030 Infant Death ISO RGD:1317291 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:15075330|PMID:15178757|PMID:16253912|PMID:18782775|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25351510|PMID:25741868|PMID:27435932|PMID:28492532|PMID:30615648 620156 Ank2 ankyrin 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28492532 620156 Ank2 ankyrin 2 gene DOID:9007096 Stroke ISO RGD:1317291 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 620156 Ank2 ankyrin 2 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1599110|PMID:9378703 20070117 RGD 620156 Ank2 ankyrin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317291 D RGD:734572|PMID:12571597 19990101 RGD 620156 Ank2 ankyrin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317291 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 620157 Ank3 ankyrin 3 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1318779 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 620157 Ank3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:7240710 20140911 OMIM 620157 Ank3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome PMID:22865819|PMID:23390136|PMID:25741868|PMID:28492532|PMID:29302074 620157 Ank3 ankyrin 3 gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1318779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25741868 620157 Ank3 ankyrin 3 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1318779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868|PMID:28492532 620157 Ank3 ankyrin 3 gene DOID:1059 intellectual disability ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 620157 Ank3 ankyrin 3 gene DOID:12849 autistic disorder ISO RGD:1318779 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autism PMID:22865819|PMID:25741868 620157 Ank3 ankyrin 3 gene DOID:1824 status epilepticus IEP D RGD:6767290|PMID:19306853 20120705 RGD 620157 Ank3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:1318779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 620157 Ank3 ankyrin 3 gene DOID:3312 bipolar disorder ISO RGD:1318779 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926974|PMID:31043756 620157 Ank3 ankyrin 3 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1318779 D RGD:153344594|PMID:33729739 20220830 RGD DNS:SNPs:multiple:(human) 620157 Ank3 ankyrin 3 gene DOID:3911 progeria ISO RGD:1318779 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27217151 620157 Ank3 ankyrin 3 gene DOID:5419 schizophrenia ISO RGD:1318779 D RGD:153344576|PMID:21893642 20220829 RGD mRNA,protein:decreased expression:superior temporal gyrus 620157 Ank3 ankyrin 3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1318779 D RGD:153344576|PMID:21893642 20220829 RGD DNA:SNP: :rs9804190(human) 620157 Ank3 ankyrin 3 gene DOID:630 genetic disease ISO RGD:1318779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350204|PMID:28492532 620157 Ank3 ankyrin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:734217 D RGD:153344559|PMID:26652480 20220825 RGD protein:decreased expression:liver 620157 Ank3 ankyrin 3 gene DOID:9000998 Brain Injuries IEP D RGD:6767288|PMID:20557305 20120705 RGD 620157 Ank3 ankyrin 3 gene DOID:9001234 Prenatal Exposure Delayed Effects susceptibility ISO RGD:1318779 D RGD:153344561|PMID:27824361 20220826 RGD DNA:SNP: : rs9804190(human) 620157 Ank3 ankyrin 3 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:6767305|PMID:10915577 20120709 RGD mRNA:decreased expression:neuron 620157 Ank3 ankyrin 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1318779 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 620157 Ank3 ankyrin 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1318779 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 620157 Ank3 ankyrin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1318779 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 620157 Ank3 ankyrin 3 gene DOID:9008330 Serrated Polyposis ISO RGD:1318779 D RGD:153344547|PMID:35447336 20220824 RGD DNA:hypomethylation:exon,mucosa: 620158 Smad5 SMAD family member 5 gene DOID:0060001 withdrawal disorder ISO RGD:1349958 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 620158 Smad5 SMAD family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620158 Smad5 SMAD family member 5 gene DOID:2999 granulosa cell tumor ISO RGD:1550273 D RGD:2299978|PMID:17967875 20080822 RGD 620158 Smad5 SMAD family member 5 gene DOID:630 genetic disease ISO RGD:1349958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620158 Smad5 SMAD family member 5 gene DOID:9004207 Testicular Neoplasms ISO RGD:1550273 D RGD:2299978|PMID:17967875 20080822 RGD 620158 Smad5 SMAD family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349958 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620158 Smad5 SMAD family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349958 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 620158 Smad5 SMAD family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620158 Smad5 SMAD family member 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349958 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20079400 620159 Skap2 src kinase associated phosphoprotein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345057 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620159 Skap2 src kinase associated phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1345057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620159 Skap2 src kinase associated phosphoprotein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345057 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 62016 Nfic nuclear factor I/C gene DOID:630 genetic disease ISO RGD:69148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62016 Nfic nuclear factor I/C gene DOID:9002304 Prostatic Neoplasms ISO RGD:69148 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 62016 Nfic nuclear factor I/C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69148 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620160 Bid BH3 interacting domain death agonist gene DOID:0060071 pre-malignant neoplasm treatment IDA D RGD:13792594|PMID:29588340 20180914 RGD associated with gastric adenocarcinoma 620160 Bid BH3 interacting domain death agonist gene DOID:0111996 immunodeficiency 51 ISO RGD:1346183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 620160 Bid BH3 interacting domain death agonist gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 620160 Bid BH3 interacting domain death agonist gene DOID:1793 pancreatic cancer ISO RGD:1346183 D RGD:2317560|PMID:15943879 20100409 RGD 620160 Bid BH3 interacting domain death agonist gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732539 D RGD:13506949|PMID:29440992 20180226 RGD 620160 Bid BH3 interacting domain death agonist gene DOID:630 genetic disease ISO RGD:1346183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620160 Bid BH3 interacting domain death agonist gene DOID:684 hepatocellular carcinoma ISO RGD:1346183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15289866 620160 Bid BH3 interacting domain death agonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15095271 620160 Bid BH3 interacting domain death agonist gene DOID:9004009 Reperfusion Injury IDA D RGD:2317562|PMID:19888517 20100409 RGD 620160 Bid BH3 interacting domain death agonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346183 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620160 Bid BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2317561|PMID:19940077 20100409 RGD 620160 Bid BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13782263|PMID:11934844 20180830 RGD protein:increased cleavage:heart: 620160 Bid BH3 interacting domain death agonist gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885356 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:0080016 spina bifida ISO RGD:731376 D RGD:737785|PMID:11953746 19990101 RGD 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:289 endometriosis ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:299 adenocarcinoma ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:731375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:731375 D RGD:13782259|PMID:18059332 20180829 RGD 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:8866 actinic keratosis ISO RGD:731375 D RGD:13782258|PMID:22179182 20180829 RGD 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885356 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:9008550 Vitamin A Deficiency IEP D RGD:13782256|PMID:22554462 20180829 RGD 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:9008550 Vitamin A Deficiency treatment ISO RGD:731376 D RGD:13782197|PMID:25451926 20180828 RGD 620161 Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 gene DOID:9206 Barrett's esophagus ISO RGD:731375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18059332 620162 Fgf11 fibroblast growth factor 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 620162 Fgf11 fibroblast growth factor 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:734211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 620162 Fgf11 fibroblast growth factor 11 gene DOID:1059 intellectual disability ISO RGD:734211 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 620162 Fgf11 fibroblast growth factor 11 gene DOID:12177 common variable immunodeficiency ISO RGD:734211 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 620162 Fgf11 fibroblast growth factor 11 gene DOID:2729 dyskeratosis congenita ISO RGD:734211 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 620162 Fgf11 fibroblast growth factor 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 620162 Fgf11 fibroblast growth factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:734211 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 620162 Fgf11 fibroblast growth factor 11 gene DOID:630 genetic disease ISO RGD:734211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620163 Fgf12 fibroblast growth factor 12 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348702 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863 620163 Fgf12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:7240710 20190315 OMIM 620163 Fgf12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 PMID:17576681|PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863|PMID:31292943|PMID:32645220|PMID:9536098 620163 Fgf12 fibroblast growth factor 12 gene DOID:1826 epilepsy ISO RGD:1348702 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28135719|PMID:28492532|PMID:28506426|PMID:28554332|PMID:28991257|PMID:29100083|PMID:29652076|PMID:29699863 620163 Fgf12 fibroblast growth factor 12 gene DOID:5419 schizophrenia ISO RGD:1348702 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620163 Fgf12 fibroblast growth factor 12 gene DOID:630 genetic disease ISO RGD:1348702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620163 Fgf12 fibroblast growth factor 12 gene DOID:9005369 Hepatomegaly ISO RGD:1348702 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 620164 Fgf13 fibroblast growth factor 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733500 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620164 Fgf13 fibroblast growth factor 13 gene DOID:1059 intellectual disability ISS RGD:1553609 D RGD:13592920 20210819 MouseDO 620164 Fgf13 fibroblast growth factor 13 gene DOID:12849 autistic disorder ISO RGD:733500 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620164 Fgf13 fibroblast growth factor 13 gene DOID:1793 pancreatic cancer ISO RGD:733500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 620164 Fgf13 fibroblast growth factor 13 gene DOID:9000663 Developmental and Epileptic Encephalopathy 90 ISO RGD:733500 D RGD:7240710 20210303 OMIM 620164 Fgf13 fibroblast growth factor 13 gene DOID:9000663 Developmental and Epileptic Encephalopathy 90 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 PMID:25741868|PMID:33245860|PMID:34871784 620164 Fgf13 fibroblast growth factor 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 620164 Fgf13 fibroblast growth factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733500 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620164 Fgf13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:7240710 20230125 OMIM 620164 Fgf13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 PMID:34184986 620165 Fgf14 fibroblast growth factor 14 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1343584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26089778 620165 Fgf14 fibroblast growth factor 14 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1343584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nystagmus 4, congenital, autosomal dominant | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:12489043|PMID:15470364|PMID:17978045|PMID:194719761|PMID:21681106|PMID:25566820|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30017992|PMID:32162847|PMID:5470364 620165 Fgf14 fibroblast growth factor 14 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 620165 Fgf14 fibroblast growth factor 14 gene DOID:1222 cartilage disease ISO RGD:1343584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11241832 620165 Fgf14 fibroblast growth factor 14 gene DOID:12849 autistic disorder ISO RGD:1343584 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 620165 Fgf14 fibroblast growth factor 14 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343584 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 620165 Fgf14 fibroblast growth factor 14 gene DOID:14701 propionic acidemia ISO RGD:1343584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 620165 Fgf14 fibroblast growth factor 14 gene DOID:1561 cognitive disorder ISO RGD:1343584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26089778 620165 Fgf14 fibroblast growth factor 14 gene DOID:630 genetic disease ISO RGD:1343584 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620165 Fgf14 fibroblast growth factor 14 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343584 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 620165 Fgf14 fibroblast growth factor 14 gene DOID:9006316 Spinocerebellar Ataxia 27A ISO RGD:1343584 D RGD:7240710 20230104 OMIM 620165 Fgf14 fibroblast growth factor 14 gene DOID:9006713 Spinocerebellar Ataxia 27B ISO RGD:1343584 D RGD:7240710 20230104 OMIM 620165 Fgf14 fibroblast growth factor 14 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 620166 Fgf19 fibroblast growth factor 19 gene DOID:0060180 colitis ISO RGD:1550725 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 620166 Fgf19 fibroblast growth factor 19 gene DOID:1059 intellectual disability ISO RGD:1344909 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620166 Fgf19 fibroblast growth factor 19 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 620166 Fgf19 fibroblast growth factor 19 gene DOID:5082 liver cirrhosis ISO RGD:1550725 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 620166 Fgf19 fibroblast growth factor 19 gene DOID:630 genetic disease ISO RGD:1344909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620166 Fgf19 fibroblast growth factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1344909 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 620166 Fgf19 fibroblast growth factor 19 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344909 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620166 Fgf19 fibroblast growth factor 19 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1550725 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 620166 Fgf19 fibroblast growth factor 19 gene DOID:9005749 Necrosis ISO RGD:1550725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24699334 620166 Fgf19 fibroblast growth factor 19 gene DOID:9006646 Metabolic Syndrome ISO RGD:1550725 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 620166 Fgf19 fibroblast growth factor 19 gene DOID:9007692 Insulin Resistance ISO RGD:1550725 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 620166 Fgf19 fibroblast growth factor 19 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620167 Robo2 roundabout guidance receptor 2 gene DOID:0080205 CAKUT ISO RGD:736256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:17357069|PMID:18235093|PMID:22995991|PMID:23536131|PMID:24429398|PMID:25741868|PMID:27657687|PMID:28492532|PMID:30143558|PMID:30586318 620167 Robo2 roundabout guidance receptor 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:736257 D RGD:243048427|PMID:25691540 20230330 RGD 620167 Robo2 roundabout guidance receptor 2 gene DOID:12849 autistic disorder ISO RGD:736256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 620167 Robo2 roundabout guidance receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:736257 D RGD:243048427|PMID:25691540 20230330 RGD 620167 Robo2 roundabout guidance receptor 2 gene DOID:224 transient cerebral ischemia IEP D RGD:243048429|PMID:27686659 20230330 RGD protein:increased expression:brain, astrocyte 620167 Robo2 roundabout guidance receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 620167 Robo2 roundabout guidance receptor 2 gene DOID:630 genetic disease ISO RGD:736256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960 620167 Robo2 roundabout guidance receptor 2 gene DOID:9000998 Brain Injuries IEP D RGD:2316136|PMID:16262652 20100126 RGD mRNA:increased expression:brain 620167 Robo2 roundabout guidance receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620167 Robo2 roundabout guidance receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736256 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 620167 Robo2 roundabout guidance receptor 2 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 620167 Robo2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:7240710 20131030 OMIM 620167 Robo2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux 2 PMID:16199547|PMID:17357069|PMID:18235093|PMID:22558067|PMID:22995991|PMID:23536131|PMID:25741868|PMID:26489027|PMID:27657687|PMID:28492532 620167 Robo2 roundabout guidance receptor 2 gene DOID:9620 vesicoureteral reflux ISO RGD:736256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:28492532 620168 Npffr2 neuropeptide FF receptor 2 gene DOID:630 genetic disease ISO RGD:733261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620168 Npffr2 neuropeptide FF receptor 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733261 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620169 Fgl1 fibrinogen-like 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 620169 Fgl1 fibrinogen-like 1 gene DOID:630 genetic disease ISO RGD:737041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10283 prostate cancer ISO RGD:736840 D RGD:2302865|PMID:18722266 20090120 RGD 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:62309 D RGD:2302869|PMID:15941609 20090120 RGD mRNA:decreased expression:hippocampus 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:736840 D RGD:2302735|PMID:7770119 20090112 RGD 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:2302863|PMID:11853019 20090120 RGD mRNA:decreased expression:hippocampus 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:2302864|PMID:10210891 20090120 RGD 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:62309 D RGD:2302870|PMID:15063784 20090120 RGD associated with Down Syndrome;protein:decreased expression:heart 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:2394 ovarian cancer ISO RGD:736840 D RGD:2302866|PMID:18652693 20090120 RGD 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:305 carcinoma ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25329396 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:5844 myocardial infarction IEP D RGD:2302667|PMID:17089028 20090108 RGD protein:decreased expression:right heart ventricle, ventricular septum 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:6000 congestive heart failure ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:630 genetic disease ISO RGD:736840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:2302867|PMID:18191186 20090120 RGD associated with Cervix Neoplasms 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:2302868|PMID:16243812 20090120 RGD associated with Breast Neoplasms 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736840 D RGD:2302862|PMID:12813171 20090120 RGD associated with Prostatic Neoplasms;protein:decreased expression: 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62017 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736840 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620170 Fgl2 fibrinogen-like 2 gene DOID:0040094 autoimmune glomerulonephritis ISS RGD:732675 D RGD:13592920 20220616 MouseDO 620170 Fgl2 fibrinogen-like 2 gene DOID:0080600 COVID-19 ISO RGD:1347654 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620170 Fgl2 fibrinogen-like 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1347654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 620170 Fgl2 fibrinogen-like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347654 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620170 Fgl2 fibrinogen-like 2 gene DOID:630 genetic disease ISO RGD:1347654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620170 Fgl2 fibrinogen-like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620170 Fgl2 fibrinogen-like 2 gene DOID:9002311 Experimental Autoimmune Myocarditis severity IEP D RGD:38549573|PMID:28892130 20200902 RGD 620170 Fgl2 fibrinogen-like 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1347654 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 620171 Trafd1 TRAF type zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620171 Trafd1 TRAF type zinc finger domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620172 Frmd4b FERM domain containing 4B gene DOID:0060224 atrial fibrillation ISO RGD:1348430 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 620172 Frmd4b FERM domain containing 4B gene DOID:630 genetic disease ISO RGD:1348430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620173 Tgfb1i1 transforming growth factor beta 1 induced transcript 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732522 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 620173 Tgfb1i1 transforming growth factor beta 1 induced transcript 1 gene DOID:630 genetic disease ISO RGD:732522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620174 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732025 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 620174 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:732025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620174 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:31079899 620174 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:7240710 20190918 OMIM 620174 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies PMID:25741868|PMID:31079899 620175 Fgf21 fibroblast growth factor 21 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344631 D RGD:11554173 20191008 CTD CTD Direct Evidence: therapeutic PMID:26797127|PMID:29289645 620175 Fgf21 fibroblast growth factor 21 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:732404 D RGD:25330354|PMID:32195457 20200408 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:10763 hypertension ISO RGD:1344631 D RGD:11554173 20210112 CTD CTD Direct Evidence: therapeutic PMID:29706566 620175 Fgf21 fibroblast growth factor 21 gene DOID:178 vascular disease ISO RGD:1344631 D RGD:11554173 20210112 CTD CTD Direct Evidence: therapeutic PMID:29706566 620175 Fgf21 fibroblast growth factor 21 gene DOID:1936 atherosclerosis ISO RGD:1344631 D RGD:10401919|PMID:26047614 20151012 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum: 620175 Fgf21 fibroblast growth factor 21 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 620175 Fgf21 fibroblast growth factor 21 gene DOID:630 genetic disease ISO RGD:1344631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620175 Fgf21 fibroblast growth factor 21 gene DOID:784 chronic kidney disease ISO RGD:1344631 D RGD:10401925|PMID:22494291 20151012 RGD protein:increased expression:serum: 620175 Fgf21 fibroblast growth factor 21 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344631 D RGD:10401920|PMID:25625802 20151012 RGD protein:increased expression:serum: 620175 Fgf21 fibroblast growth factor 21 gene DOID:9003936 Cardiomegaly ISO RGD:732404 D RGD:10401893|PMID:23771152 20151009 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10401916|PMID:23262585 20151012 RGD protein:decreased expression:serum: 620175 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344631 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23499715 620175 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732404 D RGD:10401916|PMID:23262585 20151012 RGD protein:decreased expression:serum: 620175 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:732404 D RGD:10401921|PMID:25359298 20151012 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis ISO RGD:732404 D RGD:10401870|PMID:19664632 20151009 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1344631 D RGD:10401870|PMID:19664632 20151009 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:732404 D RGD:10401890|PMID:25306889 20151009 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1344631 D RGD:10401924|PMID:23887638 20151012 RGD protein:increased expression:serum: 620175 Fgf21 fibroblast growth factor 21 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity IEP D RGD:15045603|PMID:29883717 20191218 RGD mRNA:increased expression:liver (rat) 620175 Fgf21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344631 D RGD:11554173 20170207 CTD CTD Direct Evidence: therapeutic PMID:26797127 620175 Fgf21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732404 D RGD:10401914|PMID:21293445 20151012 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9452 fatty liver disease ISO RGD:1344631 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24184811 620175 Fgf21 fibroblast growth factor 21 gene DOID:9452 fatty liver disease severity ISO RGD:1344631 D RGD:25330354|PMID:32195457 20200408 RGD 620175 Fgf21 fibroblast growth factor 21 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344631 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23499715 620175 Fgf21 fibroblast growth factor 21 gene DOID:9970 obesity ISO RGD:1344631 D RGD:11554173 20170207 CTD CTD Direct Evidence: therapeutic PMID:24184811|PMID:26797127 620176 Cnmd chondromodulin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1347278 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 620176 Cnmd chondromodulin gene DOID:1059 intellectual disability ISO RGD:1347278 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 620176 Cnmd chondromodulin gene DOID:630 genetic disease ISO RGD:1347278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620177 Fgf22 fibroblast growth factor 22 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:733776 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 620177 Fgf22 fibroblast growth factor 22 gene DOID:5339 cyclic hematopoiesis ISO RGD:733776 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620177 Fgf22 fibroblast growth factor 22 gene DOID:630 genetic disease ISO RGD:733776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050336 hypophosphatemia ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050459 hyperphosphatemia ISO RGD:1351456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:1351456 D RGD:10044237|PMID:22551310 20150604 RGD protein:increased expression:serum: 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:10044239|PMID:19655082 20150604 RGD DNA:missense mutation:cds:526C>T,p.R176W (human) 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:1598933|PMID:11062477 20070103 RGD DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:7240710 20130221 OMIM 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:1353055|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:18982401|PMID:21880793|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26186302|PMID:26467025|PMID:28492532|PMID:31486862|PMID:32415663|PMID:35738466|PMID:5173181|PMID:9024275 620178 Fgf23 fibroblast growth factor 23 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351456 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 620178 Fgf23 fibroblast growth factor 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 620178 Fgf23 fibroblast growth factor 23 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25326637|PMID:29389098 620178 Fgf23 fibroblast growth factor 23 gene DOID:182 calcinosis ISO RGD:1351456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 620178 Fgf23 fibroblast growth factor 23 gene DOID:4676 uremia IEP D RGD:10044236|PMID:19339809 20150604 RGD 620178 Fgf23 fibroblast growth factor 23 gene DOID:630 genetic disease ISO RGD:1351456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620178 Fgf23 fibroblast growth factor 23 gene DOID:784 chronic kidney disease IEP D RGD:10044210|PMID:20016468 20150603 RGD protein:increased expression:serum: 620178 Fgf23 fibroblast growth factor 23 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351456 D RGD:10044208|PMID:14988389 20150603 RGD 620178 Fgf23 fibroblast growth factor 23 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:21880793|PMID:25741868|PMID:26186302|PMID:28492532|PMID:35738466 620178 Fgf23 fibroblast growth factor 23 gene DOID:9002165 Diabetic Nephropathies severity IEP D RGD:10044235|PMID:23967103 20150604 RGD mRNA,protein:increased expression:kidney: 620178 Fgf23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:10044240|PMID:18729070 20150604 RGD 620178 Fgf23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:10045876|PMID:19500727 20150619 RGD mRNA:decreased expression:liver: 620178 Fgf23 fibroblast growth factor 23 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1351456 D RGD:10044241|PMID:24101107 20150604 RGD protein:increased expression: : 620178 Fgf23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:7240710 20190508 OMIM 620178 Fgf23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 PMID:11062477|PMID:15590700|PMID:15687325|PMID:16030159|PMID:16151858|PMID:18682534|PMID:18982401|PMID:19837926|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29389098 620178 Fgf23 fibroblast growth factor 23 gene DOID:9007181 Osteoporotic Fractures ISO RGD:1351456 D RGD:10044238|PMID:20928885 20150604 RGD 620178 Fgf23 fibroblast growth factor 23 gene DOID:9007740 Familial Hypophosphatemia TAS D RGD:1303356|PMID:12419819 19990101 RGD 620178 Fgf23 fibroblast growth factor 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25378588|PMID:25741868|PMID:29389098 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:733936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:7240710 20130221 OMIM 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 PMID:10972423|PMID:11152660|PMID:1152660|PMID:1405476|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34229749|PMID:7530787|PMID:9536089|PMID:9843043 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:733936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:10283 prostate cancer ISO RGD:733936 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:150 disease of mental health ISS RGD:733937 D RGD:13592920 20200528 MouseDO 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:733936 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:733936 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:25741868|PMID:28492532 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:630 genetic disease ISO RGD:733936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:733936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 620179 Gnpat glyceronephosphate O-acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733936 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 62018 Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A gene DOID:0050700 cardiomyopathy ISO RGD:737038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 62018 Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A gene DOID:6000 congestive heart failure ISO RGD:737038 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20071777 62018 Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A gene DOID:630 genetic disease ISO RGD:737038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62018 Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A gene DOID:684 hepatocellular carcinoma ISO RGD:737038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15010824 62018 Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:0050711 aceruloplasminemia ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20655381 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:7240710 20130221 OMIM 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 4 PMID:11431687|PMID:11518736|PMID:12730114|PMID:12857562|PMID:12865285|PMID:12873829|PMID:14636642|PMID:15030991|PMID:15338274|PMID:15692071|PMID:15727899|PMID:15831700|PMID:15956209|PMID:16135412|PMID:16351644|PMID:16440176|PMID:16457665|PMID:16813613|PMID:16885049|PMID:17276706|PMID:17490902|PMID:17576681|PMID:17951290|PMID:17997113|PMID:18160816|PMID:19150361|PMID:19383972|PMID:20460119|PMID:21094556|PMID:21199650|PMID:21231898|PMID:21411349|PMID:22584997|PMID:23065513|PMID:23943237|PMID:24714983|PMID:25396007|PMID:25741868|PMID:26059880|PMID:27896572|PMID:28110135|PMID:28492532|PMID:30002125|PMID:30130274|PMID:31640930|PMID:32360131|PMID:9536098 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:28492532 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:733072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:12849 autistic disorder ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733072 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:2352 hemochromatosis ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16457665|PMID:21411349 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:2352 hemochromatosis ISO RGD:733072 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:2355 anemia ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16434484 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:289 endometriosis ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:630 genetic disease ISO RGD:733072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:733072 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:9003603 Hemolysis ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733072 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:9005725 Iron Overload ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17052926 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733072 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 620180 Slc40a1 solute carrier family 40 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 620181 Chrd chordin gene DOID:0111546 Currarino syndrome ISO RGD:1348275 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 620181 Chrd chordin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348275 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 620181 Chrd chordin gene DOID:11198 DiGeorge syndrome ISS RGD:1550370 D RGD:13592920 20180518 MouseDO OMIM:188400 620181 Chrd chordin gene DOID:12583 velocardiofacial syndrome ISS RGD:1550370 D RGD:13592920 20180518 MouseDO OMIM:192430 620181 Chrd chordin gene DOID:630 genetic disease ISO RGD:1348275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620182 Nup88 nucleoporin 88 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:733611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 620182 Nup88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:7240710 20190515 OMIM 620182 Nup88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868|PMID:30543681 620182 Nup88 nucleoporin 88 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 620182 Nup88 nucleoporin 88 gene DOID:630 genetic disease ISO RGD:733611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620183 Mob4 MOB family member 4, phocein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601878 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620185 Zfp347 zinc finger protein 347 gene DOID:630 genetic disease ISO RGD:1351207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620186 Phkb phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXb ISO RGD:1343205 D RGD:7240710 20130221 OMIM 620186 Phkb phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXb ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:12825073|PMID:16199547|PMID:17576681|PMID:17689125|PMID:18950708|PMID:21646031|PMID:25070466|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26913919|PMID:28492532|PMID:30919572|PMID:31508908|PMID:33782433|PMID:33858366|PMID:34093448|PMID:9215682|PMID:9326319|PMID:9402963|PMID:9536098 620186 Phkb phosphorylase kinase regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620187 Galp galanin-like peptide gene DOID:630 genetic disease ISO RGD:1604259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620187 Galp galanin-like peptide gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313739|PMID:15256810 20091013 RGD mRNA:increased expression:arcuate nucleus, pars posterior 620187 Galp galanin-like peptide gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2313737|PMID:16046316 20091013 RGD 620187 Galp galanin-like peptide gene DOID:9970 obesity IEP D RGD:2313739|PMID:15256810 20091013 RGD mRNA:decreased expression:arcuate nucleus 620188 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222959 620188 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:7240710 20130731 OMIM 620188 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 PMID:1524075|PMID:17576681|PMID:20133464|PMID:23222959|PMID:24081735|PMID:24731014|PMID:25741868|PMID:26082470|PMID:27050234|PMID:27761240|PMID:27913609|PMID:28492532|PMID:29325022|PMID:29420171|PMID:9536098 620188 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0080600 COVID-19 ISO RGD:732482 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620188 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620188 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732482 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1348418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:2316 brain ischemia IEP D RGD:632531|PMID:7643220 20070403 RGD mRNA:increased expression:brain 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:2841 asthma IMP D RGD:1601020|PMID:17145927 20070403 RGD 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1348418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:7240710 20140903 OMIM 620189 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 PMID:21075760|PMID:21205713|PMID:25741868|PMID:27118405|PMID:28492532 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734383 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:10923 sickle cell anemia ISO RGD:734383 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:12849 autistic disorder ISO RGD:734383 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:62311 D RGD:734863|PMID:12195424 19990101 RGD 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:1928 Williams-Beuren syndrome ISS RGD:62311 D RGD:13592920 20180518 MouseDO OMIM:194050 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734383 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:5419 schizophrenia ISO RGD:734383 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:630 genetic disease ISO RGD:734383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:8445 intestinal volvulus ISO RGD:734383 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734383 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62019 Clip2 CAP-GLY domain containing linker protein 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734383 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620190 Becn1 beclin 1 gene DOID:0080322 polycystic kidney disease IEP D RGD:6483074|PMID:21270095 20120514 RGD protein:increased expression:renal cortex 620190 Becn1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:736173 D RGD:6483074|PMID:21270095 20120514 RGD protein:increased expression:renal cortex 620190 Becn1 beclin 1 gene DOID:0080855 Parkinsonism ISO RGD:736173 D RGD:6483312|PMID:19864570 20120516 RGD 620190 Becn1 beclin 1 gene DOID:0080855 Parkinsonism treatment IEP D RGD:11558014|PMID:25424835 20161107 RGD 620190 Becn1 beclin 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:6483068|PMID:21926933 20120511 RGD protein:increased expression:pancreas 620190 Becn1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733440 D RGD:6483101|PMID:18497889 20120515 RGD protein:decreased expression:gray matter 620190 Becn1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:736173 D RGD:6483102|PMID:20863706 20120515 RGD 620190 Becn1 beclin 1 gene DOID:10763 hypertension IEP D RGD:11561939|PMID:23499735 20161111 RGD protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733440 D RGD:11558015|PMID:25209900 20161216 RGD protein:increased expression:heart 620190 Becn1 beclin 1 gene DOID:12010 anterior ischemic optic neuropathy IEP D RGD:6483070|PMID:21490676 20120511 RGD protein:decreased expression:retina 620190 Becn1 beclin 1 gene DOID:12217 Lewy body dementia ISO RGD:733440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19628769 620190 Becn1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:733440 D RGD:6483072|PMID:21478185 20120514 RGD protein:decreased expression:fibroblast 620190 Becn1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:736173 D RGD:6483072|PMID:21478185 20120514 RGD protein:decreased expression:brain 620190 Becn1 beclin 1 gene DOID:1596 depressive disorder disease_progression ISO RGD:733440 D RGD:11561930|PMID:25386878 20161111 RGD 620190 Becn1 beclin 1 gene DOID:1596 depressive disorder treatment ISO RGD:736173 D RGD:11561930|PMID:25386878 20161111 RGD 620190 Becn1 beclin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733440 D RGD:155641236|PMID:33292020 20221103 RGD 620190 Becn1 beclin 1 gene DOID:1686 glaucoma IEP D RGD:6483048|PMID:22476098 20120511 RGD protein:increased expression:eye 620190 Becn1 beclin 1 gene DOID:1824 status epilepticus IEP D RGD:6483096|PMID:19138675 20120515 RGD mRNA:protein:increased expression 620190 Becn1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:733440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138675 620190 Becn1 beclin 1 gene DOID:1826 epilepsy IEP D RGD:6483076|PMID:20838925 20120514 RGD mRNA,protein:increased expression:hippocampus 620190 Becn1 beclin 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:11561910|PMID:22509406 20161110 RGD 620190 Becn1 beclin 1 gene DOID:2316 brain ischemia IEP D RGD:6483313|PMID:17936001 20120516 RGD protein:increased expression:hippocampus, frontal cortex 620190 Becn1 beclin 1 gene DOID:2316 brain ischemia IMP D RGD:6483094|PMID:19574998 20120515 RGD 620190 Becn1 beclin 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:733440 D RGD:6483102|PMID:20863706 20120515 RGD 620190 Becn1 beclin 1 gene DOID:326 ischemia IEP D RGD:11561945|PMID:25435100 20161114 RGD 620190 Becn1 beclin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736173 D RGD:11561951|PMID:23851366 20161114 RGD mRNA:increased expression:spinal cord 620190 Becn1 beclin 1 gene DOID:3454 brain infarction IEP D RGD:6483057|PMID:22227058 20120511 RGD protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:11561900|PMID:22108007 20161110 RGD 620190 Becn1 beclin 1 gene DOID:4914 esophagus adenocarcinoma IEP D RGD:11561943|PMID:22301112 20161114 RGD 620190 Becn1 beclin 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:733440 D RGD:14974231|PMID:30849962 20190920 RGD 620190 Becn1 beclin 1 gene DOID:5082 liver cirrhosis ISO RGD:733440 D RGD:11561934|PMID:22895779 20161111 RGD protein:increased expression:skeletal muscle 620190 Becn1 beclin 1 gene DOID:5199 ureteral obstruction IEP D RGD:11561927|PMID:23314838 20161111 RGD protein:increased expression:cortex of kidney 620190 Becn1 beclin 1 gene DOID:5419 schizophrenia IEP D RGD:11561929|PMID:24365867 20161111 RGD mRNA:decreased expression:hippocampus 620190 Becn1 beclin 1 gene DOID:5844 myocardial infarction ISO RGD:733440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 620190 Becn1 beclin 1 gene DOID:5844 myocardial infarction treatment IEP D RGD:11561913|PMID:20079142 20161110 RGD 620190 Becn1 beclin 1 gene DOID:6000 congestive heart failure treatment IEP D RGD:11560532|PMID:18619688 20161109 RGD 620190 Becn1 beclin 1 gene DOID:607 paraplegia IEP D RGD:11557990|PMID:23055316 20161111 RGD protein:increased expression:soleus muscle 620190 Becn1 beclin 1 gene DOID:630 genetic disease ISO RGD:733440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620190 Becn1 beclin 1 gene DOID:646 viral encephalitis ISO RGD:733440 D RGD:6483316|PMID:21592995 20120516 RGD associated with HIV infections;protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:783 end stage renal disease IEP D RGD:11561926|PMID:24090408 20161111 RGD protein:increased expression:kidney 620190 Becn1 beclin 1 gene DOID:8283 peritonitis IEP D RGD:6483066|PMID:22001349 20120511 RGD protein:increased expression: 620190 Becn1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:733440 D RGD:6483317|PMID:20187128 20120516 RGD protein:decreased expression:cartilage 620190 Becn1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:736173 D RGD:6483317|PMID:20187128 20120516 RGD protein:decreased expression:cartilage 620190 Becn1 beclin 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:733440 D RGD:6483081|PMID:20539009 20120514 RGD protein:increased expression:intestine 620190 Becn1 beclin 1 gene DOID:90 degenerative disc disease IEP D RGD:11561942|PMID:22835012 20161114 RGD protein:increased expression:intervertebral disc 620190 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11561918|PMID:24559459 20161110 RGD 620190 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733440 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 620190 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736173 D RGD:6483100|PMID:21806471 20120515 RGD protein:increased expression:spinal cord 620190 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:11561922|PMID:23852559 20161111 RGD 620190 Becn1 beclin 1 gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11561988|PMID:24990154 20161115 RGD 620190 Becn1 beclin 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:6483046|PMID:22521819 20120511 RGD protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:9000998 Brain Injuries IEP D RGD:11558018|PMID:24221859 20161107 RGD protein:increased expression:hippocampus 620190 Becn1 beclin 1 gene DOID:9000998 Brain Injuries IEP D RGD:6483098|PMID:18500386 20120515 RGD protein:increased expression:neuron, astrocyte 620190 Becn1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:733440 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34929507 620190 Becn1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:736173 D RGD:6483314|PMID:16874043 20120516 RGD protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:11561952|PMID:25374587 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:6483069|PMID:21866636 20120511 RGD protein:increased expression:kidney 620190 Becn1 beclin 1 gene DOID:9002211 Hyperalgesia IEP D RGD:11560531|PMID:23665054 20161109 RGD 620190 Becn1 beclin 1 gene DOID:9002514 Neointima IMP D RGD:11558011|PMID:25238224 20161107 RGD 620190 Becn1 beclin 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:11561935|PMID:23884876 20161111 RGD protein:increased expression:basal ganglion 620190 Becn1 beclin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733440 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 620190 Becn1 beclin 1 gene DOID:9002955 Nerve Degeneration IEP D RGD:5685686|PMID:21436843 20161111 RGD protein:increased expression:lumbar spinal cord ventral horn 620190 Becn1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:11558017|PMID:25919564 20161107 RGD protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:6483050|PMID:22449108 20120511 RGD protein:increased expression:cerebral cortex 620190 Becn1 beclin 1 gene DOID:9003936 Cardiomegaly IEP D RGD:11561904|PMID:23326547 20161110 RGD mRNA, protein:increased expression:heart left ventricle 620190 Becn1 beclin 1 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:11561938|PMID:24998254 20161111 RGD 620190 Becn1 beclin 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:6483054|PMID:22306244 20120511 RGD protein:increased expression:brain 620190 Becn1 beclin 1 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:11561955|PMID:23589102 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9004649 Heat Stroke IEP D RGD:6483077|PMID:20823696 20120514 RGD protein:increased expression:cerebral cortex 620190 Becn1 beclin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733440 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22481206|PMID:23790316 620190 Becn1 beclin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:11557996|PMID:24993523 20161104 RGD 620190 Becn1 beclin 1 gene DOID:9006008 Closed Head Injuries ISO RGD:736173 D RGD:6483315|PMID:16004578 20140130 RGD protein:increased expression:neuron 620190 Becn1 beclin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:11561958|PMID:26412257 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9006281 Temporomandibular Joint Disorders IEP D RGD:10041017|PMID:23386193 20161111 RGD mRNA, protein:increased expression:cartilage tissue 620190 Becn1 beclin 1 gene DOID:9007090 Experimental Seizures treatment IEP D RGD:11561923|PMID:23994218 20161111 RGD 620190 Becn1 beclin 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:736173 D RGD:11560530|PMID:22850625 20161109 RGD 620190 Becn1 beclin 1 gene DOID:9007730 Burns IEP D RGD:11561936|PMID:24730400 20161111 RGD 620190 Becn1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736173 D RGD:11561944|PMID:20812860 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:11561911|PMID:20821058 20161110 RGD 620190 Becn1 beclin 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD 620190 Becn1 beclin 1 gene DOID:9074 systemic lupus erythematosus ISS RGD:736173 D RGD:13592920 20190502 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 620190 Becn1 beclin 1 gene DOID:9206 Barrett's esophagus IEP D RGD:11561943|PMID:22301112 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:733440 D RGD:11561943|PMID:22301112 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:11561956|PMID:21820301 20161114 RGD 620190 Becn1 beclin 1 gene DOID:9743 diabetic neuropathy treatment IEP D RGD:11561957|PMID:25824552 20161114 RGD associated with Diabetes Mellitus, Experimental 620191 Caskin1 CASK interacting protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351061 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 620191 Caskin1 CASK interacting protein 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351061 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 620191 Caskin1 CASK interacting protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 620191 Caskin1 CASK interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 620191 Caskin1 CASK interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351061 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620191 Caskin1 CASK interacting protein 1 gene DOID:2871 endometrial carcinoma ISO RGD:1351061 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 620191 Caskin1 CASK interacting protein 1 gene DOID:630 genetic disease ISO RGD:1351061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620191 Caskin1 CASK interacting protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351061 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 620192 Mmp10 matrix metallopeptidase 10 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 620192 Mmp10 matrix metallopeptidase 10 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347586 D RGD:13204814|PMID:23185624 20170720 RGD protein:increased expression:cerebrospinal fluid 620192 Mmp10 matrix metallopeptidase 10 gene DOID:1059 intellectual disability ISO RGD:1347586 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620192 Mmp10 matrix metallopeptidase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1347586 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 620192 Mmp10 matrix metallopeptidase 10 gene DOID:2773 contact dermatitis ISO RGD:1347586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 620192 Mmp10 matrix metallopeptidase 10 gene DOID:2841 asthma ISO RGD:1347586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 620192 Mmp10 matrix metallopeptidase 10 gene DOID:630 genetic disease ISO RGD:1347586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620192 Mmp10 matrix metallopeptidase 10 gene DOID:7148 rheumatoid arthritis ISO RGD:1347586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620192 Mmp10 matrix metallopeptidase 10 gene DOID:783 end stage renal disease ISO RGD:1347586 D RGD:7207051|PMID:19886850 20130117 RGD associated with Hypertension; protein:increased expression:plasma (human) 620192 Mmp10 matrix metallopeptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22285823 620192 Mmp10 matrix metallopeptidase 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022614 620192 Mmp10 matrix metallopeptidase 10 gene DOID:9005172 Lung Neoplasms ISO RGD:1347586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022614 620192 Mmp10 matrix metallopeptidase 10 gene DOID:9351 diabetes mellitus ISO RGD:1347586 D RGD:8693313|PMID:11159210 20140709 RGD 620194 Slc8a2 solute carrier family 8 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:731774 D RGD:13628395|PMID:21382638 20180613 RGD protein:altered expression:synaptosome: 620194 Slc8a2 solute carrier family 8 member A2 gene DOID:1824 status epilepticus IEP D RGD:2316980|PMID:15461673 20100308 RGD 620194 Slc8a2 solute carrier family 8 member A2 gene DOID:2316 brain ischemia IEP D RGD:2316979|PMID:16107787 20100308 RGD 620194 Slc8a2 solute carrier family 8 member A2 gene DOID:630 genetic disease ISO RGD:731774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620194 Slc8a2 solute carrier family 8 member A2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2316975|PMID:18037393 20100308 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 620195 Mmp12 matrix metallopeptidase 12 gene DOID:0080322 polycystic kidney disease ISO RGD:732694 D RGD:7241222|PMID:18606867 20130305 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:1059 intellectual disability ISO RGD:1350336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620195 Mmp12 matrix metallopeptidase 12 gene DOID:10608 celiac disease ISO RGD:1350336 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 620195 Mmp12 matrix metallopeptidase 12 gene DOID:10941 intracranial aneurysm no_association ISO RGD:1350336 D RGD:1582365|PMID:11546917 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:10983 Alport syndrome ISO RGD:732694 D RGD:7241212|PMID:16816359 20130305 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:12704 ataxia telangiectasia ISO RGD:1350336 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 620195 Mmp12 matrix metallopeptidase 12 gene DOID:13139 crescentic glomerulonephritis IEP D RGD:2325762|PMID:20488952 20130305 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:13139 crescentic glomerulonephritis IMP D RGD:737630|PMID:12626598 20130305 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350336 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased expression:aorta (human) 620195 Mmp12 matrix metallopeptidase 12 gene DOID:14323 Marfan syndrome ISO RGD:1350336 D RGD:1582351|PMID:16820601 20061106 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) 620195 Mmp12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:732694 D RGD:1582354|PMID:16221765 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1350336 D RGD:13204795|PMID:19628284 20170719 RGD DNA:SNP:promoter:-82A>G (human) 620195 Mmp12 matrix metallopeptidase 12 gene DOID:3362 coronary aneurysm susceptibility ISO RGD:1350336 D RGD:1582363|PMID:12103254 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1350336 D RGD:1582366|PMID:10807873 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:4467 clear cell renal cell carcinoma ISO rgd:1350336 D RGD:2290421|PMID:11576837 20130305 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:6218988|PMID:21894146 20130304 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1350336 D RGD:7207058|PMID:19321798 20130117 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) 620195 Mmp12 matrix metallopeptidase 12 gene DOID:630 genetic disease ISO RGD:1350336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620195 Mmp12 matrix metallopeptidase 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1350336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620195 Mmp12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1350336 D RGD:1582355|PMID:16115023 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1350336 D RGD:1582356|PMID:16082623 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:820 myocarditis ISO RGD:732694 D RGD:1582352|PMID:16533694 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350336 D RGD:7241216|PMID:21277817 20130305 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage IDA D RGD:1582362|PMID:12783419 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732694 D RGD:1582358|PMID:15654856 20061106 RGD 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9004657 Weight Gain ISO RGD:1350336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9007096 Stroke ISO RGD:1350336 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9206 Barrett's esophagus ISO RGD:1350336 D RGD:7207058|PMID:19321798 20130117 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) 620195 Mmp12 matrix metallopeptidase 12 gene DOID:9675 pulmonary emphysema ISO RGD:1350336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12634787|PMID:25106431 620196 Mmp13 matrix metallopeptidase 13 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 620196 Mmp13 matrix metallopeptidase 13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1343267 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 620196 Mmp13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:7240710 20130221 OMIM 620196 Mmp13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type PMID:16167086|PMID:25741868|PMID:28492532|PMID:30439533|PMID:8412645 620196 Mmp13 matrix metallopeptidase 13 gene DOID:0080176 meningococcal meningitis IEP D RGD:8547971|PMID:10430840 20150515 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343267 D RGD:2293604|PMID:15517230 20080609 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:10325 silicosis IEP D RGD:10043156|PMID:9614183 20150515 RGD mRNA:increased expression:lung, fibroblast 620196 Mmp13 matrix metallopeptidase 13 gene DOID:1059 intellectual disability ISO RGD:1343267 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620196 Mmp13 matrix metallopeptidase 13 gene DOID:10808 gastric ulcer IEP D RGD:10043177|PMID:15375341 20150518 RGD mRNA:increased expression:stomach 620196 Mmp13 matrix metallopeptidase 13 gene DOID:11054 urinary bladder cancer ISO RGD:1343267 D RGD:2293609|PMID:11054671 20080609 RGD urinary bladder transitional-cell carcinomas 620196 Mmp13 matrix metallopeptidase 13 gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:8552731|PMID:20056896 20140724 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:1245 vulva cancer ISO RGD:1343267 D RGD:2293612|PMID:10027405 20080609 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:12704 ataxia telangiectasia ISO RGD:1343267 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 620196 Mmp13 matrix metallopeptidase 13 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552243 D RGD:1582576|PMID:16037568 20061114 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:13714 anodontia ISO RGD:1343267 D RGD:13204812|PMID:24351915 20170720 RGD DNA:SNP: :rs2252070 (human) 620196 Mmp13 matrix metallopeptidase 13 gene DOID:14018 alcoholic liver cirrhosis IEP D RGD:10043176|PMID:16286264 20150518 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:2316 brain ischemia IDA D RGD:1582554|PMID:16112096 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis ISO RGD:1552243 D RGD:1582544|PMID:16230484 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1343267 D RGD:1582549|PMID:12392760 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1343267 D RGD:2293606|PMID:11585740 20080609 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1343267 D RGD:2306074|PMID:19258954 20090319 RGD DNA:polymorphism:promoter 620196 Mmp13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1343267 D RGD:2306083|PMID:12974393 20090319 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:4362 cervical cancer ISO RGD:1343267 D RGD:2306082|PMID:17243165 20090319 RGD mRNA:increased expression:uterine cervix 620196 Mmp13 matrix metallopeptidase 13 gene DOID:5082 liver cirrhosis ISO RGD:1552243 D RGD:7207361|PMID:21382168 20130130 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:5844 myocardial infarction IDA D RGD:1582556|PMID:15782494 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure IEP D RGD:2290467|PMID:10773234 20150518 RGD associated with Hypertension 620196 Mmp13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure disease_progression IEP D RGD:1582587|PMID:10773235 20130122 RGD protein:increased expression:left ventricle (rat) 620196 Mmp13 matrix metallopeptidase 13 gene DOID:630 genetic disease ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620196 Mmp13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1343267 D RGD:1582548|PMID:15156361 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1343267 D RGD:1580157|PMID:15944607 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:824 periodontitis IEP D RGD:10043174|PMID:19393988 20150518 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis IEP D RGD:2300093|PMID:17530714 20150513 RGD mRNA, protein:increased expression:cartilage 620196 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1343267 D RGD:10043117|PMID:11134178 20150514 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1343267 D RGD:7207089|PMID:16128596 20130121 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1552243 D RGD:10043101|PMID:23982761 20150513 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis treatment IEP D RGD:7207218|PMID:22890185 20130124 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease IEP D RGD:8661231|PMID:20948465 20140724 RGD mRNA:increased expression:intervertebral disc 620196 Mmp13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment IDA D RGD:10043178|PMID:19063844 20150518 RGD associated with Renal Insufficiency 620196 Mmp13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment IEP D RGD:2325859|PMID:20472983 20140724 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9000438 Subarachnoid Hemorrhage IDA D RGD:1582545|PMID:16961140 20061113 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9000616 Metaphyseal Anadysplasia 1 ISO RGD:1343267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant PMID:19615667|PMID:28492532|PMID:30439533 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343267 D RGD:2306080|PMID:18709334 20090319 RGD associated with Carcinoma, Renal Cell;mRNA, protein:increased expression:bone 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1343267 D RGD:10043118|PMID:20700625 20150514 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552243 D RGD:10043118|PMID:20700625 20150514 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1343267 D RGD:13204811|PMID:19615667 20170719 RGD DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human) 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1343267 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia PMID:25741868|PMID:28492532 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343267 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17404313 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:10043161|PMID:10623612 20150515 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15138554 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9002331 Knee Osteoarthritis ameliorates IEP D RGD:150519887|PMID:31258642 20211013 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:1582329|PMID:11435459 20150515 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:8694124|PMID:24244039 20140724 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9002906 Multiple Organ Failure ISO RGD:1552243 D RGD:7207133|PMID:15259001 20130122 RGD protein:increased activity:liver, lung, spleen (mouse) 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:7240710 20190315 OMIM 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Spahr type PMID:13915518|PMID:19615667|PMID:24648384|PMID:24781753|PMID:25741868|PMID:27576021|PMID:28492532|PMID:31413057 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:1552243 D RGD:2306081|PMID:18698413 20090319 RGD 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9006041 Osteoarthritis, Hip IEP D RGD:10043109|PMID:22670655 20150513 RGD mRNA, protein:increased expression:cartilage 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9007482 Bone Metastasis ISO RGD:1343267 D RGD:2306080|PMID:18709334 20130123 RGD associated with Carcinoma, Renal Cell; mRNA, protein:increased expression:bone (human) 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9007877 Fetal Hypoxia IEP D RGD:7207283|PMID:21856922 20130129 RGD protein:increased expression:heart (rat) 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17728286 620196 Mmp13 matrix metallopeptidase 13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1343267 D RGD:2293603|PMID:18373849 20080609 RGD 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:10283 prostate cancer ISO RGD:732656 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732656 D RGD:13628395|PMID:21382638 20180613 RGD protein:altered expression:parietal cortex, synaptosome: 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus IEP D RGD:2316980|PMID:15461673 20100308 RGD protein:decreased expression:brain 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:732656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:2316 brain ischemia IEP D RGD:2316979|PMID:16107787 20100308 RGD 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:630 genetic disease ISO RGD:732656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620197 Slc8a3 solute carrier family 8 member A3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2316975|PMID:18037393 20100308 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:0060439 lysinuric protein intolerance ISO RGD:734118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 620198 Mmp14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:7240710 20171011 OMIM 620198 Mmp14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Winchester syndrome PMID:22922033|PMID:25741868|PMID:4238825 620198 Mmp14 matrix metallopeptidase 14 gene DOID:10941 intracranial aneurysm ISO RGD:734118 D RGD:1582590|PMID:9724118 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:11713 diabetic angiopathy ISO RGD:734118 D RGD:1582581|PMID:12477149 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734119 D RGD:1582576|PMID:16037568 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:13001 carotid stenosis ISO RGD:734119 D RGD:1582575|PMID:16147977 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734118 D RGD:1582351|PMID:16820601 20061114 RGD protein:decreased expression:aorta (human) 620198 Mmp14 matrix metallopeptidase 14 gene DOID:14323 Marfan syndrome ISO RGD:734118 D RGD:1582351|PMID:16820601 20061114 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) 620198 Mmp14 matrix metallopeptidase 14 gene DOID:2316 brain ischemia IEP D RGD:1582577|PMID:15963646 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis IEP D RGD:1582580|PMID:12526080 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:2671 transitional cell carcinoma ISO RGD:734118 D RGD:2314950|PMID:9751409 20091209 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:2986 IgA glomerulonephritis IEP D RGD:2314955|PMID:9848780 20091209 RGD mRNA:increased expression:glomerulus 620198 Mmp14 matrix metallopeptidase 14 gene DOID:299 adenocarcinoma ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 620198 Mmp14 matrix metallopeptidase 14 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19661247 620198 Mmp14 matrix metallopeptidase 14 gene DOID:326 ischemia IDA D RGD:1582563|PMID:16077081 20061113 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:3459 breast carcinoma disease_progression ISO RGD:734118 D RGD:2314951|PMID:9158005 20091209 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734118 D RGD:152600903|PMID:24789592 20220525 RGD protein:increased expression: esophagus 620198 Mmp14 matrix metallopeptidase 14 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:2314954|PMID:10878552 20091209 RGD mRNA:increased expression:kidney, macrophage 620198 Mmp14 matrix metallopeptidase 14 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:734118 D RGD:126925218|PMID:21472143 20210517 RGD DNA:SNP:5'utr: (rs2236302) (human) 620198 Mmp14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction IEP D RGD:1582587|PMID:10773235 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:734118 D RGD:1582569|PMID:16461815 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:6000 congestive heart failure disease_progression IEP D RGD:1582587|PMID:10773235 20130122 RGD protein:increased expression:left ventricle (rat) 620198 Mmp14 matrix metallopeptidase 14 gene DOID:630 genetic disease ISO RGD:734118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620198 Mmp14 matrix metallopeptidase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:734118 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 620198 Mmp14 matrix metallopeptidase 14 gene DOID:7148 rheumatoid arthritis ISS RGD:734119 D RGD:13592920 20180518 MouseDO OMIM:180300 620198 Mmp14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1582579|PMID:15300177 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19010778 620198 Mmp14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:1582584|PMID:11877705 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9002522 Embolism ISO RGD:734118 D RGD:1582578|PMID:15920147 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9003871 Venous Thrombosis ISO RGD:734119 D RGD:1582570|PMID:16171603 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734118 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9005175 Ulcer ISO RGD:734118 D RGD:1582583|PMID:12452868 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734118 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:734118 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections IEP D RGD:1582580|PMID:12526080 20061114 RGD 620198 Mmp14 matrix metallopeptidase 14 gene DOID:9008939 Breast Neoplasms ISO RGD:734118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 620199 Mmp16 matrix metallopeptidase 16 gene DOID:630 genetic disease ISO RGD:735917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62020 Prmt1 protein arginine methyltransferase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:731338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 62020 Prmt1 protein arginine methyltransferase 1 gene DOID:2841 asthma IEP D RGD:9491823|PMID:20423833 20140912 RGD mRNA:increased expression:lung 62020 Prmt1 protein arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:731338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62020 Prmt1 protein arginine methyltransferase 1 gene DOID:674 cleft palate ISS RGD:62312 D RGD:13592920 20221117 MouseDO 62020 Prmt1 protein arginine methyltransferase 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:9491822|PMID:23159951 20140912 RGD associated with Diabetes Mellitus, Experimental 620200 Acvr1 activin A receptor type 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344480 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 620200 Acvr1 activin A receptor type 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:734161 D RGD:329337340|PMID:22536403 20230427 RGD 620200 Acvr1 activin A receptor type 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1344480 D RGD:329328928|PMID:33443061 20230425 RGD DNA:SNP:3'utr: (rs12997) 620200 Acvr1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:11341914|PMID:26097044 20230425 RGD DNA:mutation:CDS:c.772A>G, R258G 620200 Acvr1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:329337363|PMID:32727600 20230428 RGD DNA:mutation:cds:R206H 620200 Acvr1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:7240710 20190508 OMIM 620200 Acvr1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:10441661|PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:17576681|PMID:18203193|PMID:18684712|PMID:18830232|PMID:18952055|PMID:19085907|PMID:19330033|PMID:21044902|PMID:21377447|PMID:21525719|PMID:21567927|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:24051199|PMID:24259422|PMID:24705251|PMID:25326637|PMID:25741868|PMID:26058333|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090|PMID:9536098 620200 Acvr1 activin A receptor type 1 gene DOID:1657 ventricular septal defect ISO RGD:734161 D RGD:329337340|PMID:22536403 20230427 RGD 620200 Acvr1 activin A receptor type 1 gene DOID:1682 congenital heart disease ISO RGD:734161 D RGD:329328929|PMID:24680892 20230425 RGD 620200 Acvr1 activin A receptor type 1 gene DOID:1793 pancreatic cancer ISO RGD:1344480 D RGD:2317217|PMID:9714055 20100526 RGD 620200 Acvr1 activin A receptor type 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705250 620200 Acvr1 activin A receptor type 1 gene DOID:3070 high grade glioma ISO RGD:1344480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705251|PMID:24705252|PMID:24705254 620200 Acvr1 activin A receptor type 1 gene DOID:3070 high grade glioma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:19085907|PMID:19330033|PMID:22977237|PMID:24705250|PMID:24705254|PMID:25326637|PMID:25741868|PMID:26619011|PMID:31779674|PMID:7068725|PMID:818090 620200 Acvr1 activin A receptor type 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1344480 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25326637|PMID:26619011 620200 Acvr1 activin A receptor type 1 gene DOID:630 genetic disease ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:19330033|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090 620200 Acvr1 activin A receptor type 1 gene DOID:668 myositis ossificans ISO RGD:1344480 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620200 Acvr1 activin A receptor type 1 gene DOID:83 cataract ISO RGD:734161 D RGD:8547757|PMID:21504908 20230428 RGD 620200 Acvr1 activin A receptor type 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2313802|PMID:11675415 20091016 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney 620200 Acvr1 activin A receptor type 1 gene DOID:9004059 Eye Neoplasms ISO RGD:734161 D RGD:8547757|PMID:21504908 20230428 RGD 620200 Acvr1 activin A receptor type 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1344480 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:24705250|PMID:24705254|PMID:26619011|PMID:31779674 620200 Acvr1 activin A receptor type 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21297076 620200 Acvr1 activin A receptor type 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344169 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0080600 COVID-19 ISO RGD:1344169 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344169 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344169 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620201 Mmp23 matrix metallopeptidase 23 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620201 Mmp23 matrix metallopeptidase 23 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344169 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620201 Mmp23 matrix metallopeptidase 23 gene DOID:630 genetic disease ISO RGD:1344169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620201 Mmp23 matrix metallopeptidase 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344169 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620201 Mmp23 matrix metallopeptidase 23 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344169 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 620201 Mmp23 matrix metallopeptidase 23 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620202 Mmp24 matrix metallopeptidase 24 gene DOID:630 genetic disease ISO RGD:732592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620202 Mmp24 matrix metallopeptidase 24 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732592 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 620203 Phb2 prohibitin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 620203 Phb2 prohibitin 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604641 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 620203 Phb2 prohibitin 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604641 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 620203 Phb2 prohibitin 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604641 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 620203 Phb2 prohibitin 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604641 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 620203 Phb2 prohibitin 2 gene DOID:630 genetic disease ISO RGD:1604641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620203 Phb2 prohibitin 2 gene DOID:9000998 Brain Injuries IEP D RGD:12903261|PMID:24566151 20170515 RGD 620203 Phb2 prohibitin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604641 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620204 Sytl4 synaptotagmin-like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734138 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620204 Sytl4 synaptotagmin-like 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 620204 Sytl4 synaptotagmin-like 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 620204 Sytl4 synaptotagmin-like 4 gene DOID:12849 autistic disorder ISO RGD:734138 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620204 Sytl4 synaptotagmin-like 4 gene DOID:630 genetic disease ISO RGD:734138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620204 Sytl4 synaptotagmin-like 4 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:734138 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 620205 Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351877 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 620205 Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:5419 schizophrenia ISO RGD:1351877 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620205 Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:630 genetic disease ISO RGD:1351877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620206 Prpsap1 phosphoribosyl pyrophosphate synthetase-associated protein 1 gene DOID:630 genetic disease ISO RGD:733778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620207 Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 gene DOID:0050777 Joubert syndrome ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 620207 Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732905 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 620207 Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 620207 Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 gene DOID:12849 autistic disorder ISO RGD:732905 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620207 Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:732905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12707859 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy PMID:11835386|PMID:12707859|PMID:15054402|PMID:15136673|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28492532|PMID:32071834|PMID:32180488|PMID:35389136 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:3910 lung adenocarcinoma ISO RGD:733707 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:630 genetic disease ISO RGD:733707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15054402|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:28334938|PMID:28492532 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9000160 Leukoencephalopathy with Vanishing White Matter 4 ISO RGD:733707 D RGD:7240710 20230505 OMIM 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9000160 Leukoencephalopathy with Vanishing White Matter 4 ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 PMID:11835386|PMID:12707859|PMID:15054402|PMID:15776425|PMID:18263758|PMID:25089094|PMID:25843247|PMID:28492532|PMID:29331873|PMID:33432707 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9002704 Leukoencephalopathies ISO RGD:733707 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 620208 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733707 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:35389136 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1550709 D RGD:5135283|PMID:21124994 20110719 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1550709 D RGD:27095887|PMID:28824718 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1352024 D RGD:27095890|PMID:25048951 20200515 RGD mRNA,protein:increased expression:liver,serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080547 non-alcoholic steatohepatitis severity ISO RGD:1550709 D RGD:27095890|PMID:25048951 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550709 D RGD:27095957|PMID:19626487 20200519 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550709 D RGD:4891446|PMID:19906920 20200617 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:30309200|PMID:32427582 20200618 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1550709 D RGD:30309198|PMID:30626685 20200618 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0081267 graft-versus-host disease ISO RGD:1550709 D RGD:5135435|PMID:19218194 20110720 RGD mRNA, protein:increased expression:intestine, liver, lung 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0081292 traumatic brain injury treatment ISO RGD:1550709 D RGD:27095897|PMID:26435412 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10247 pleurisy ISO RGD:1550709 D RGD:5135449|PMID:14527170 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10459 common cold ISO RGD:1352024 D RGD:5135489|PMID:15764644 20110722 RGD protein:increased expression:respiratory system fluid/secretion 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10533 viral pneumonia ISO RGD:1550709 D RGD:5135437|PMID:17655904 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10608 celiac disease ISO RGD:1352024 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:11394 adult respiratory distress syndrome IMP D RGD:2311389|PMID:9288136 20090709 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:12236 primary biliary cholangitis ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1550709 D RGD:5135483|PMID:18624292 20110722 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1287 cardiovascular system disease ISO RGD:1352024 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13141 uveitis IEP D RGD:2311384|PMID:16505038 20090709 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:5135438|PMID:17550373 20110720 RGD protein:increased expression:respiratory system fluid/secretion 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:5135492|PMID:9834133 20110722 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13580 cholestasis ISO RGD:1352024 D RGD:27095896|PMID:30507970 20200515 RGD associated with Chronic Hepatitis C; protein:increased expression:serum: 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13949 interstitial cystitis ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1352024 D RGD:5135442|PMID:16014397 20110720 RGD mRNA:increased expression:aorta 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:14095 boutonneuse fever ISO RGD:1550709 D RGD:5135450|PMID:14507644 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1520 colon carcinoma treatment ISO RGD:1550709 D RGD:27095891|PMID:30381616 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1591 renovascular hypertension IDA D RGD:2311383|PMID:17062848 20090709 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C ISO RGD:1352024 D RGD:27095893|PMID:18775023 20200515 RGD protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C disease_progression ISO RGD:1352024 D RGD:27095945|PMID:24668726 20200518 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C treatment ISO RGD:1352024 D RGD:27095943|PMID:25512630 20200518 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2043 hepatitis B disease_progression ISO RGD:1352024 D RGD:27095959|PMID:18325387 20200519 RGD DNA:SNP:promoter:-201G>A(human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia IEP D RGD:2311381|PMID:17549754 20090709 RGD mRNA:increased expression:brain 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1352024 D RGD:5135451|PMID:12097412 20110720 RGD protein:increased expression:respiratory system fluid/secretion 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1550709 D RGD:5135441|PMID:16709871 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1550709 D RGD:5135451|PMID:12097412 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1352024 D RGD:5135439|PMID:17302903 20110720 RGD protein:decreased expression:plasma 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1352024 D RGD:5135457|PMID:16602032 20110721 RGD protein:decreased expression:plasma 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1550709 D RGD:5135452|PMID:11994485 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2917 cryoglobulinemia ISO RGD:1352024 D RGD:27095893|PMID:18775023 20200515 RGD associated with hepatitis C; protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:32716399|PMID:15602737 20200629 RGD protein:increased expression:serum (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:5135440|PMID:17052299 20110720 RGD protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:30309216|PMID:20231782 20200619 RGD protein:increased expression:lung (mouse) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:30309221|PMID:15356152 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352024 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:decreased expression:lung (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:30309217|PMID:17129463 20200619 RGD protein:increased expression:lung (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:30309218|PMID:16195357 20200619 RGD mRNA, protein:increased expression:plasma, lung (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:30309219|PMID:15657466 20200619 RGD mRNA, protein:increased expression:serum, lung (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550709 D RGD:30309207|PMID:32365944 20200618 RGD mRNA:increased expression:lung (mouse) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352024 D RGD:30309220|PMID:15781938 20200619 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352024 D RGD:33769580|PMID:15865221 20200702 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1550709 D RGD:32716426|PMID:32553273 20200630 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1352024 D RGD:27095956|PMID:29843631 20200519 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:5135305|PMID:19816001 20110719 RGD protein:increased expression:alveolar macrophage 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:5135306|PMID:19565490 20110719 RGD protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352024 D RGD:5135436|PMID:17925429 20110720 RGD protein:increased expression:sputum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:326 ischemia ISO RGD:1550709 D RGD:5135441|PMID:16709871 20110720 RGD mRNA:increased expression:lung 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3310 atopic dermatitis ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3454 brain infarction IEP D RGD:2325193|PMID:19895873 20230215 RGD protein:increased expression:brain (rat) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352024 D RGD:632989|PMID:10825390 20150304 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:5135279|PMID:21303517 20110719 RGD protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:5135284|PMID:21049277 20110719 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:4247 coronary restenosis ISO RGD:1352024 D RGD:1598500|PMID:14578618 20090709 RGD protein:increased expression:plasma 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:437 myasthenia gravis ISO RGD:1352024 D RGD:1598501|PMID:15843529 20110722 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis ISO RGD:1352024 D RGD:27095892|PMID:11418676 20200515 RGD mRNA:increased expression:liver 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1352024 D RGD:27095953|PMID:29105936 20200519 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis severity ISO RGD:1352024 D RGD:27095955|PMID:28067328 20200519 RGD associated with Chronic Hepatitis B; 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352024 D RGD:14995461|PMID:27246604 20191025 RGD protein:increased expression:plasma 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:5135445|PMID:15265940 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:5135491|PMID:14979941 20110722 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:576 proteinuria IMP D RGD:2311386|PMID:16382022 20090709 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:630 genetic disease ISO RGD:1352024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:6713 cerebrovascular disease ISO RGD:1352024 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352024 D RGD:27095889|PMID:28592115 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352024 D RGD:27095899|PMID:27245433 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1550709 D RGD:27095898|PMID:28638480 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:820 myocarditis IMP D RGD:1598502|PMID:15322218 20090709 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1352024 D RGD:5135490|PMID:15725351 20110722 RGD mRNA:increased expression:alveolar macrophage 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1550709 D RGD:5135448|PMID:14991597 20110720 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia ISO RGD:1550709 D RGD:5135459|PMID:15618188 20110721 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia severity ISO RGD:1550709 D RGD:5135458|PMID:16299319 20110721 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:8947 diabetic retinopathy ISO RGD:1352024 D RGD:2311361|PMID:17194635 20090708 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2311365|PMID:19170890 20090708 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1352024 D RGD:27095953|PMID:29105936 20200519 RGD associated with liver cirrhosis; 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9000998 Brain Injuries ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9001488 Human Influenza ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1550709 D RGD:27095942|PMID:18041715 20200518 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:2311357|PMID:19073786 20090708 RGD associated with Diabetes Mellitus, Insulin-Dependent 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:2311359|PMID:17425653 20090708 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1550709 D RGD:5683877|PMID:21273392 20110719 RGD protein:increased expression:respiratory system fluid/secretion 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002395 Hypothermia IEP D RGD:2311385|PMID:16469832 20131204 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9003617 Carrington Syndrome ISO RGD:1352024 D RGD:5135443|PMID:15956791 20110720 RGD protein:increased expression:respiratory system fluid/secretion 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury IEP D RGD:2311376|PMID:18589091 20090709 RGD mRNA:increased expression:liver 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1352024 D RGD:5135441|PMID:16709871 20110720 RGD protein:increased expression:respiratory system fluid/secretion 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1550709 D RGD:5135307|PMID:19433855 20110719 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352024 D RGD:27095949|PMID:31127759 20200518 RGD protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004283 Transplant Rejection severity ISO RGD:1352024 D RGD:27095950|PMID:28245475 20200518 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1550709 D RGD:27095895|PMID:23227188 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550709 D RGD:2311360|PMID:17372021 20090708 RGD mRNA:increased expression:pancreatic islet 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352024 D RGD:38508895|PMID:23593305 20200819 RGD protein:increased expression:plasma (human) 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1550709 D RGD:27095891|PMID:30381616 20200515 RGD associated with colon carcinoma; 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis IEP D RGD:2311388|PMID:12909590 20090709 RGD mRNA:increased expression:lung 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352024 D RGD:5135493|PMID:20561238 20110722 RGD protein:increased expression:plasma 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11739529 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1352024 D RGD:27095951|PMID:18234638 20200518 RGD mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1352024 D RGD:27095888|PMID:30660173 20200515 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:1598501|PMID:15843529 20110722 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IMP D RGD:2311364|PMID:19232748 20090708 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9009049 Foot Ulcer ISO RGD:1352024 D RGD:2311355|PMID:19509015 20090708 RGD associated with Diabetes Mellitus 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9146 visceral leishmaniasis ISO RGD:1550709 D RGD:27095947|PMID:16239557 20200518 RGD mRNA:increased expression:liver 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352024 D RGD:2311356|PMID:19187771 20090708 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9452 fatty liver disease ISO RGD:1352024 D RGD:27095890|PMID:25048951 20200515 RGD mRNA,protein:increased expression:liver,serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9588 encephalitis IEP D RGD:2311377|PMID:18405324 20090709 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9675 pulmonary emphysema ISO RGD:1352024 D RGD:4892104|PMID:15526056 20110722 RGD protein:increased expression:lung, lymphocyte 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus IMP D RGD:2311362|PMID:16339582 20090708 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352024 D RGD:2311358|PMID:19046227 20090708 RGD protein:increased expression:serum 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1550709 D RGD:2311363|PMID:16148094 20090708 RGD 620209 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:986 alopecia areata ISO RGD:1352024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 62021 Hspb7 heat shock protein family B (small) member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 62021 Hspb7 heat shock protein family B (small) member 7 gene DOID:13501 Moebius syndrome ISO RGD:736091 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 62021 Hspb7 heat shock protein family B (small) member 7 gene DOID:630 genetic disease ISO RGD:736091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620210 Lypla2 lysophospholipase 2 gene DOID:630 genetic disease ISO RGD:733893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620210 Lypla2 lysophospholipase 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 620211 Nrxn2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21424692 620211 Nrxn2 neurexin 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735900 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 620211 Nrxn2 neurexin 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620211 Nrxn2 neurexin 2 gene DOID:1059 intellectual disability ISO RGD:735900 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 620211 Nrxn2 neurexin 2 gene DOID:12849 autistic disorder ISO RGD:735900 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 620211 Nrxn2 neurexin 2 gene DOID:1826 epilepsy ISO RGD:735900 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epilepsy 620211 Nrxn2 neurexin 2 gene DOID:3070 high grade glioma ISO RGD:735900 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 620211 Nrxn2 neurexin 2 gene DOID:630 genetic disease ISO RGD:735900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620212 Nrxn3 neurexin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353595 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 620212 Nrxn3 neurexin 3 gene DOID:12849 autistic disorder ISO RGD:1353595 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Autism 620212 Nrxn3 neurexin 3 gene DOID:14261 fragile X syndrome ISO RGD:1553035 D RGD:11554325|PMID:26235839 20161026 RGD mRNA:decreased expression:hippocampus,somatosendory cortex 620212 Nrxn3 neurexin 3 gene DOID:303 substance-related disorder ISO RGD:1353595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620212 Nrxn3 neurexin 3 gene DOID:630 genetic disease ISO RGD:1353595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620212 Nrxn3 neurexin 3 gene DOID:9007661 Dwarfism ISO RGD:1353595 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 620213 Masp1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 620213 Masp1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:7240710 20141015 OMIM 620213 Masp1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:17937425|PMID:18266249|PMID:21035106|PMID:21258343|PMID:22966085|PMID:25741868|PMID:28492532|PMID:28534045|PMID:28794230|PMID:29407414|PMID:30601195|PMID:33144682 620213 Masp1 MBL associated serine protease 1 gene DOID:0060576 3MC syndrome 2 ISO RGD:733853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 620213 Masp1 MBL associated serine protease 1 gene DOID:0060577 3MC syndrome 3 ISO RGD:733853 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 620213 Masp1 MBL associated serine protease 1 gene DOID:10123 pigmentation disease ISO RGD:733853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 620213 Masp1 MBL associated serine protease 1 gene DOID:10907 microcephaly ISO RGD:733853 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620213 Masp1 MBL associated serine protease 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733853 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 620213 Masp1 MBL associated serine protease 1 gene DOID:5419 schizophrenia ISO RGD:733853 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620213 Masp1 MBL associated serine protease 1 gene DOID:630 genetic disease ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29168297|PMID:33144682 620213 Masp1 MBL associated serine protease 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 620214 Masp2 MBL associated serine protease 2 gene DOID:0050185 erythema multiforme ISO RGD:1606320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 620214 Masp2 MBL associated serine protease 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 620214 Masp2 MBL associated serine protease 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:24033266|PMID:28492532 620214 Masp2 MBL associated serine protease 2 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1606320 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 620214 Masp2 MBL associated serine protease 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620214 Masp2 MBL associated serine protease 2 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 620214 Masp2 MBL associated serine protease 2 gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1606320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 620214 Masp2 MBL associated serine protease 2 gene DOID:630 genetic disease ISO RGD:1606320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620214 Masp2 MBL associated serine protease 2 gene DOID:8577 ulcerative colitis ISO RGD:1606320 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 620214 Masp2 MBL associated serine protease 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1606320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 620214 Masp2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:7240710 20130221 OMIM 620214 Masp2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:12904520|PMID:15086395|PMID:16029433|PMID:17137870|PMID:17252003|PMID:19234189|PMID:19307021|PMID:24033266|PMID:24332888|PMID:24658431|PMID:25741868|PMID:25930971|PMID:28492532 620214 Masp2 MBL associated serine protease 2 gene DOID:9005372 Inflammation ISO RGD:1606320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 620214 Masp2 MBL associated serine protease 2 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 620214 Masp2 MBL associated serine protease 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606320 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 620214 Masp2 MBL associated serine protease 2 gene DOID:9255 frontotemporal dementia ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:24033266|PMID:28492532 620215 Higd1a HIG1 hypoxia inducible domain family, member 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1603666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 620215 Higd1a HIG1 hypoxia inducible domain family, member 1A gene DOID:630 genetic disease ISO RGD:1603666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620216 Ptpn21 protein tyrosine phosphatase, non-receptor type 21 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:734205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 620216 Ptpn21 protein tyrosine phosphatase, non-receptor type 21 gene DOID:10283 prostate cancer ISO RGD:734205 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620216 Ptpn21 protein tyrosine phosphatase, non-receptor type 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734205 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 620216 Ptpn21 protein tyrosine phosphatase, non-receptor type 21 gene DOID:2661 myoepithelioma ISO RGD:734205 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 620216 Ptpn21 protein tyrosine phosphatase, non-receptor type 21 gene DOID:630 genetic disease ISO RGD:734205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731434 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:10283 prostate cancer ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:10763 hypertension IDA D RGD:1599050|PMID:14506074 20070115 RGD 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:630 genetic disease ISO RGD:731434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:1599049|PMID:14614622 20070115 RGD DNA:frameshift mutation, missense mutation:cds:p.Q167fsX186, p.N654S (human) 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:7240710 20130731 OMIM 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:737731|PMID:12436245 19990101 RGD DNA:nonsense mutation:cds:p.W440X (human) 620217 Slc5a2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:12436245|PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:21165652|PMID:23265383|PMID:25741868|PMID:26376857|PMID:28492532 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:730886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18596687 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:11446 sciatic neuropathy IEP D RGD:10059430|PMID:19918364 20150818 RGD protein:increased phosphorylation:nucleus 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:10047401|PMID:16496165 20150713 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:10047402|PMID:17548164 20150713 RGD protein:decreased expression:frontal cortex 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease IEP D RGD:10059577|PMID:16420411 20150819 RGD protein:decreased phosphorylation:neuron: 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:730887 D RGD:734817|PMID:11967539 19990101 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730887 D RGD:734815|PMID:9616213 19990101 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:224 transient cerebral ischemia IDA D RGD:10047405|PMID:10077326 20150713 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:2316 brain ischemia treatment IEP D RGD:10059580|PMID:23644141 20150819 RGD mRNA,protein:decreased expression,decreased phosphorylation:brain: 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:730886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11717377 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:730887 D RGD:12801437|PMID:18338389 20170330 RGD protein:increased localization: prechordal mesoderm, nucleus 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:5419 schizophrenia ISO RGD:730886 D RGD:10047412|PMID:10891039 20150713 RGD protein:increased expression:cerebellar vermis 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:730886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:730886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:8923 skin melanoma ISO RGD:730886 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9000669 Ventricular Dysfunction, Right treatment IEP D RGD:155226858|PMID:22523357 20220916 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730886 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:155226865|PMID:17368520 20220916 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:155226868|PMID:29310813 20220916 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9002165 Diabetic Nephropathies susceptibility IEP D RGD:10059365|PMID:15862029 20150813 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730886 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9005086 Angiomatoid Fibrous Histiocytoma ISO RGD:730886 D RGD:7240710 20130221 OMIM 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730886 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11717377|PMID:16359811|PMID:18596687 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders IEP D RGD:10059396|PMID:14670355 20150814 RGD protein:decreased expression:hippocampus 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9452 fatty liver disease ISO RGD:730887 D RGD:734818|PMID:14614508 19990101 RGD 620218 Creb1 cAMP responsive element binding protein 1 gene DOID:9993 hypoglycemia ISO RGD:730887 D RGD:734816|PMID:11557984 19990101 RGD 620219 Sh3bp4 SH3-domain binding protein 4 gene DOID:630 genetic disease ISO RGD:731485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62022 Tmsb10 thymosin, beta 10 gene DOID:3042 allergic contact dermatitis ISO RGD:731359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 62022 Tmsb10 thymosin, beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731359 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620220 Sh3bp5 SH3-domain binding protein 5 gene DOID:0060417 3p deletion syndrome ISO RGD:733305 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 620220 Sh3bp5 SH3-domain binding protein 5 gene DOID:630 genetic disease ISO RGD:733305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620221 Snap23 synaptosome associated protein 23 gene DOID:2717 Bloom syndrome ISO RGD:1604652 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620221 Snap23 synaptosome associated protein 23 gene DOID:630 genetic disease ISO RGD:1604652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620221 Snap23 synaptosome associated protein 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620221 Snap23 synaptosome associated protein 23 gene DOID:9007102 Myocardial Ischemia ISO RGD:1604652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620221 Snap23 synaptosome associated protein 23 gene DOID:9256 colorectal cancer ISO RGD:1604652 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620223 Dlgap1 DLG associated protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734098 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 620223 Dlgap1 DLG associated protein 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 620223 Dlgap1 DLG associated protein 1 gene DOID:1059 intellectual disability ISO RGD:734098 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620223 Dlgap1 DLG associated protein 1 gene DOID:630 genetic disease ISO RGD:734098 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12954649 620223 Dlgap1 DLG associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734098 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 620223 Dlgap1 DLG associated protein 1 gene DOID:9008582 Developmental Disease ISO RGD:734098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620224 Dlgap2 DLG associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1345358 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 620224 Dlgap2 DLG associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1345358 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620224 Dlgap2 DLG associated protein 2 gene DOID:630 genetic disease ISO RGD:1345358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620225 Snap29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:7240710 20130221 OMIM 620225 Snap29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:15968592|PMID:19350501|PMID:19896110|PMID:21073448|PMID:23185475|PMID:23231787|PMID:25356970|PMID:25473036|PMID:25741868|PMID:25958742|PMID:26467025|PMID:28388629|PMID:28492532|PMID:31748968|PMID:33422265|PMID:33977139|PMID:35229899 620225 Snap29 synaptosome associated protein 29 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 620225 Snap29 synaptosome associated protein 29 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 620225 Snap29 synaptosome associated protein 29 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 620225 Snap29 synaptosome associated protein 29 gene DOID:1059 intellectual disability ISO RGD:735746 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620225 Snap29 synaptosome associated protein 29 gene DOID:11198 DiGeorge syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 620225 Snap29 synaptosome associated protein 29 gene DOID:11372 megacolon ISO RGD:735746 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620225 Snap29 synaptosome associated protein 29 gene DOID:12583 velocardiofacial syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 620225 Snap29 synaptosome associated protein 29 gene DOID:12849 autistic disorder ISO RGD:735746 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620225 Snap29 synaptosome associated protein 29 gene DOID:1826 epilepsy ISO RGD:735746 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620225 Snap29 synaptosome associated protein 29 gene DOID:5419 schizophrenia ISO RGD:735746 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620225 Snap29 synaptosome associated protein 29 gene DOID:612 primary immunodeficiency disease ISO RGD:735746 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 620225 Snap29 synaptosome associated protein 29 gene DOID:630 genetic disease ISO RGD:735746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 620225 Snap29 synaptosome associated protein 29 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735746 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620225 Snap29 synaptosome associated protein 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735746 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620225 Snap29 synaptosome associated protein 29 gene DOID:9007661 Dwarfism ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 620226 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620226 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:1540 parathyroid carcinoma ISO RGD:732559 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620226 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:630 genetic disease ISO RGD:732559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620226 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620226 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732559 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620227 Slco3a1 solute carrier organic anion transporter family, member 3a1 gene DOID:630 genetic disease ISO RGD:733471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620228 Slco4a1 solute carrier organic anion transporter family, member 4a1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 620228 Slco4a1 solute carrier organic anion transporter family, member 4a1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 620228 Slco4a1 solute carrier organic anion transporter family, member 4a1 gene DOID:0080600 COVID-19 ISO RGD:735453 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620228 Slco4a1 solute carrier organic anion transporter family, member 4a1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 620228 Slco4a1 solute carrier organic anion transporter family, member 4a1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735453 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 620228 Slco4a1 solute carrier organic anion transporter family, member 4a1 gene DOID:630 genetic disease ISO RGD:735453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620229 Zfp422 zinc finger protein 422 gene DOID:630 genetic disease ISO RGD:1318379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62023 Camkk1 calcium/calmodulin-dependent protein kinase kinase 1 gene DOID:3613 Canavan disease ISO RGD:1349409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 62023 Camkk1 calcium/calmodulin-dependent protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1349409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62023 Camkk1 calcium/calmodulin-dependent protein kinase kinase 1 gene DOID:863 nervous system disease ISO RGD:1349409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 620230 Bmal2 basic helix-loop-helix ARNT like 2 gene DOID:0080600 COVID-19 ISO RGD:737603 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620230 Bmal2 basic helix-loop-helix ARNT like 2 gene DOID:10763 hypertension ISO RGD:737603 D RGD:2314371|PMID:17728404 20091112 RGD DNA:SNPs: :rs6486121, rs3789327, rs969485(human) 620230 Bmal2 basic helix-loop-helix ARNT like 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 620230 Bmal2 basic helix-loop-helix ARNT like 2 gene DOID:630 genetic disease ISO RGD:737603 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620230 Bmal2 basic helix-loop-helix ARNT like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737603 D RGD:2314371|PMID:17728404 20091112 RGD DNA:SNPs: :rs7950226, rs11022775(human) 620230 Bmal2 basic helix-loop-helix ARNT like 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551457 D RGD:2314359|PMID:16893914 20091112 RGD DNA:SNPs:exon:multiple 620231 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma gene DOID:0070174 spermatogenic failure 17 ISO RGD:735800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947 620231 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma gene DOID:630 genetic disease ISO RGD:735800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620231 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:735800 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 620231 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735800 D RGD:13506796|PMID:17991425 20180215 RGD DNA:SNP:cds:437C>T(human) 620232 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:2234 focal epilepsy ISO RGD:1347154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 620232 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1347154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620232 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620232 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347154 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Colorectal cancer 620233 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 620233 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1350188 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 620233 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1350188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620233 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:7240710 20200122 OMIM 620233 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies PMID:25741868|PMID:30464055 620234 Mlycd malonyl-CoA decarboxylase gene DOID:0050700 cardiomyopathy ISO RGD:731588 D RGD:1600798|PMID:10455107 20070327 RGD malonyl-CoA decarboxylase deficiency, OMIM:248360 620234 Mlycd malonyl-CoA decarboxylase gene DOID:1059 intellectual disability ISO RGD:731588 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 620234 Mlycd malonyl-CoA decarboxylase gene DOID:13042 persistent fetal circulation syndrome ISO RGD:731588 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 620234 Mlycd malonyl-CoA decarboxylase gene DOID:630 genetic disease ISO RGD:731588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620234 Mlycd malonyl-CoA decarboxylase gene DOID:9005126 Malonic Aciduria ISO RGD:731588 D RGD:7240710 20130221 OMIM 620234 Mlycd malonyl-CoA decarboxylase gene DOID:9005126 Malonic Aciduria ISO RGD:731588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:10417274|PMID:10455107|PMID:12955715|PMID:16199547|PMID:17186413|PMID:17576681|PMID:22104738|PMID:22778304|PMID:23177061|PMID:23791943|PMID:25741868|PMID:28492532|PMID:31395333|PMID:32602666|PMID:6145813|PMID:7609455|PMID:8259873|PMID:9177981|PMID:9536098|PMID:9869665 620234 Mlycd malonyl-CoA decarboxylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620236 Exoc7 exocyst complex component 7 gene DOID:630 genetic disease ISO RGD:1347556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620236 Exoc7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:7240710 20210120 OMIM 620236 Exoc7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy PMID:25741868|PMID:32103185 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:733613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:4450 renal cell carcinoma IEP D RGD:5135050|PMID:476627 20110712 RGD protein:increased activity:tumor (rat) 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:630 genetic disease ISO RGD:733613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:684 hepatocellular carcinoma IEP D RGD:5135035|PMID:6327016 20110711 RGD protein:increased activity:hepatoma (rat) 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:761203 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135016|PMID:2451505 20110708 RGD protein:increased activity:kidney (rat) 620237 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:733613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0050777 Joubert syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732200 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732200 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ataxia with Dysarthria PMID:31047799 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:732200 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:3652 Leigh disease ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:630 genetic disease ISO RGD:732200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:7240710 20200722 OMIM 620238 Abca2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: ABCA2-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with poor growth and with or without seizures or ataxia PMID:25741868|PMID:28492532|PMID:30237576 620239 Kif2c kinesin family member 2C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620239 Kif2c kinesin family member 2C gene DOID:0080600 COVID-19 ISO RGD:734428 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620239 Kif2c kinesin family member 2C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734428 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620239 Kif2c kinesin family member 2C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620239 Kif2c kinesin family member 2C gene DOID:2773 contact dermatitis ISO RGD:734428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 620239 Kif2c kinesin family member 2C gene DOID:630 genetic disease ISO RGD:734428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620239 Kif2c kinesin family member 2C gene DOID:684 hepatocellular carcinoma ISO RGD:734428 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620239 Kif2c kinesin family member 2C gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:734428 D RGD:27372891|PMID:18506187 20200602 RGD associated with colorectal cancer 620239 Kif2c kinesin family member 2C gene DOID:9256 colorectal cancer disease_progression ISO RGD:734428 D RGD:27372891|PMID:18506187 20200602 RGD 62024 Rps12 ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:735309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62024 Rps12 ribosomal protein S12 gene DOID:9006599 Hypertriglyceridemia IEP D RGD:11039460|PMID:25294893 20160304 RGD associated with Metabolic Syndrome X;mRNA:increased expression:liver 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:0090020 split hand-foot malformation ISO RGD:735736 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation PMID:25741868 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:10283 prostate cancer ISO RGD:735736 D RGD:11531513|PMID:27067790 20180124 RGD associated with prostate cancer 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735737 D RGD:11252001|PMID:16738313 20180608 RGD 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:2394 ovarian cancer ISO RGD:735736 D RGD:2298717|PMID:14520463 20080718 RGD protein:altered activity:ovary 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735736 D RGD:13792605|PMID:28677753 20180917 RGD mRNA:increased expression:thyroid 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:5759 sebaceous gland neoplasm ISO RGD:735736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16565724 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:630 genetic disease ISO RGD:735736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:735736 D RGD:11531513|PMID:27067790 20180124 RGD 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:11531513|PMID:27067790 20180124 RGD associated with prostate cancer 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735736 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735736 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735736 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735736 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal radial ray morphology PMID:25741868 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9008763 Femoral Fractures IEP D RGD:2298720|PMID:16459154 20080718 RGD mRNA:decreased expression:bone 620241 Lef1 lymphoid enhancer binding factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735736 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 620242 Sgk3 serum/glucocorticoid regulated kinase family, member 3 gene DOID:10283 prostate cancer ISO RGD:1354188 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620242 Sgk3 serum/glucocorticoid regulated kinase family, member 3 gene DOID:4535 hypotrichosis ISO RGD:12199930 D RGD:9068941 20210604 OMIA Hypotrichosis, recessive PMID:27994129|PMID:30927068|PMID:31727632|PMID:3367039 620242 Sgk3 serum/glucocorticoid regulated kinase family, member 3 gene DOID:630 genetic disease ISO RGD:1354188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620243 Gnai2 G protein subunit alpha i2 gene DOID:0050117 disease by infectious agent ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recurrent infections 620243 Gnai2 G protein subunit alpha i2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 620243 Gnai2 G protein subunit alpha i2 gene DOID:0050820 atrioventricular block ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 620243 Gnai2 G protein subunit alpha i2 gene DOID:0110887 inflammatory bowel disease 12 ISS RGD:730994 D RGD:13592920 20180518 MouseDO OMIM:612241 620243 Gnai2 G protein subunit alpha i2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 620243 Gnai2 G protein subunit alpha i2 gene DOID:10763 hypertension IMP D RGD:13507308|PMID:27912212 20180228 RGD 620243 Gnai2 G protein subunit alpha i2 gene DOID:10763 hypertension treatment IEP D RGD:13508592|PMID:15106810 20180302 RGD 620243 Gnai2 G protein subunit alpha i2 gene DOID:2999 granulosa cell tumor ISO RGD:730993 D RGD:8554872 20151117 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor, somatic PMID:2116665 620243 Gnai2 G protein subunit alpha i2 gene DOID:305 carcinoma ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620243 Gnai2 G protein subunit alpha i2 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:730993 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:7737262 620243 Gnai2 G protein subunit alpha i2 gene DOID:630 genetic disease ISO RGD:730993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620243 Gnai2 G protein subunit alpha i2 gene DOID:9000064 Cardiac Arrhythmias treatment IDA D RGD:13508594|PMID:11941407 20180302 RGD associated with Myocardial Reperfusion Injury 620243 Gnai2 G protein subunit alpha i2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620243 Gnai2 G protein subunit alpha i2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730993 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 620243 Gnai2 G protein subunit alpha i2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620243 Gnai2 G protein subunit alpha i2 gene DOID:9002210 Granulosa Cell Tumor of the Ovary ISO RGD:730993 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor of the ovary PMID:2116665 620243 Gnai2 G protein subunit alpha i2 gene DOID:9002365 Ovarian Granulosa Cell Tumor ISO RGD:730993 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian granulosa cell tumor PMID:2116665 620243 Gnai2 G protein subunit alpha i2 gene DOID:9004009 Reperfusion Injury IEP D RGD:13513922|PMID:11367746 20180312 RGD 620243 Gnai2 G protein subunit alpha i2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 620243 Gnai2 G protein subunit alpha i2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:730993 D RGD:1598461|PMID:9637720 20061129 RGD 620243 Gnai2 G protein subunit alpha i2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:730993 D RGD:8554872 20160920 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia, somatic PMID:9637720 620243 Gnai2 G protein subunit alpha i2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620243 Gnai2 G protein subunit alpha i2 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:730993 D RGD:8554872 20151117 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:2116665 620243 Gnai2 G protein subunit alpha i2 gene DOID:9007001 Bradycardia ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 620243 Gnai2 G protein subunit alpha i2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:730993 D RGD:7240710 20130221 OMIM 620243 Gnai2 G protein subunit alpha i2 gene DOID:9007661 Dwarfism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature 620243 Gnai2 G protein subunit alpha i2 gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:730993 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:25741868 620243 Gnai2 G protein subunit alpha i2 gene DOID:9008813 Thecoma ISO RGD:730993 D RGD:8554872 20151117 ClinVar ClinVar Annotator: match by term: Thecoma, somatic PMID:2116665 620243 Gnai2 G protein subunit alpha i2 gene DOID:9008939 Breast Neoplasms ISO RGD:730993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 620243 Gnai2 G protein subunit alpha i2 gene DOID:9406 hypopituitarism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypopituitarism 620243 Gnai2 G protein subunit alpha i2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532|PMID:30391667|PMID:30535908 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0050451 Brugada syndrome ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25741868|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:619595|PMID:9536098 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0050562 West syndrome ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypsarrhythmia PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0050700 cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21887725|PMID:23382873|PMID:25467552|PMID:25741868|PMID:26820365|PMID:27207958|PMID:27711072|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0050793 short QT syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0050820 atrioventricular block ISO RGD:1348019 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:32681584|PMID:33959666 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0060319 cardiac arrest ISO RGD:1348019 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0060319 cardiac arrest treatment IEP D RGD:12791997|PMID:26010685 20170307 RGD 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1348019 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:7240710 20190904 OMIM 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 PMID:16199547|PMID:17576681|PMID:25299611|PMID:25741868|PMID:26046366|PMID:26820365|PMID:28492532|PMID:28750076|PMID:29247119|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30847666|PMID:9536098 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0111073 progressive familial heart block ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:20562447|PMID:21887725|PMID:28492532|PMID:30021168|PMID:619595 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:7240710 20130731 OMIM 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:16199547|PMID:17576681|PMID:19726882|PMID:20075334|PMID:20562447|PMID:21173080|PMID:21887725|PMID:22750058|PMID:23382873|PMID:24019741|PMID:25231975|PMID:25299611|PMID:25416190|PMID:25441424|PMID:25467552|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26272755|PMID:26350513|PMID:26383259|PMID:26636822|PMID:26704558|PMID:26820365|PMID:27181684|PMID:27207958|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074886|PMID:28315637|PMID:28341588|PMID:28492532|PMID:28494446|PMID:28750076|PMID:28831623|PMID:29181379|PMID:29247119|PMID:29568272|PMID:29618732|PMID:29706348|PMID:29748318|PMID:30021168|PMID:30142439|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30662450|PMID:30847666|PMID:32508047|PMID:33466149|PMID:35932045|PMID:619595|PMID:897853|PMID:9536098 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:10273 heart conduction disease ISO RGD:1348019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23382873|PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:13620 patent foramen ovale ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:1826 epilepsy ISO RGD:1348019 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:2661 myoepithelioma ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:2843 long QT syndrome ISO RGD:1348019 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:1348019 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:6000 congestive heart failure ISO RGD:1348019 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33594499 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:630 genetic disease ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21887725|PMID:25741868|PMID:28492532|PMID:32037394 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:10003030|PMID:19169264 20150429 RGD 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12791993|PMID:25763638 20170307 RGD 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1348019 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:10003028|PMID:24114458 20150429 RGD protein:increased expression:entorhinal cortex 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9001276 Failure to Thrive ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348019 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9002554 Tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25741868|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:619595|PMID:9536098 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9003163 Heart Block ISO RGD:1348019 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9003936 Cardiomegaly IEP D RGD:10003036|PMID:16966582 20150429 RGD mRNA:increased expression:heart 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9004659 Respiration Disorders ISO RGD:1348019 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:30789900 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9007001 Bradycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bradycardia PMID:25741868|PMID:28492532 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9007820 Sudden Death ISO RGD:1348019 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:30391667 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9007820 Sudden Death ISO RGD:1348019 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death PMID:21887725|PMID:23382873|PMID:24019741|PMID:25416190|PMID:25741868|PMID:26350513|PMID:28074886|PMID:28492532|PMID:30142439 620244 Trpm4 transient receptor potential cation channel, subfamily M, member 4 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 620245 Exoc8 exocyst complex component 8 gene DOID:0050777 Joubert syndrome ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:22700954 620245 Exoc8 exocyst complex component 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1343470 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620245 Exoc8 exocyst complex component 8 gene DOID:630 genetic disease ISO RGD:1343470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620245 Exoc8 exocyst complex component 8 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 620245 Exoc8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:7240710 20210120 OMIM 620245 Exoc8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy PMID:25741868|PMID:28492532|PMID:32103185 620245 Exoc8 exocyst complex component 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343470 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620246 Cetn1 centrin 1 gene DOID:12849 autistic disorder ISO RGD:1344937 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620246 Cetn1 centrin 1 gene DOID:630 genetic disease ISO RGD:1344937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620246 Cetn1 centrin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344937 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620247 Cetn2 centrin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 620247 Cetn2 centrin 2 gene DOID:12849 autistic disorder ISO RGD:736112 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620247 Cetn2 centrin 2 gene DOID:630 genetic disease ISO RGD:736112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0060643 primary sclerosing cholangitis ISS RGD:11094 D RGD:13592920 20180518 MouseDO OMIM:613806 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:15077010|PMID:16199547|PMID:17726488|PMID:19467940|PMID:20422496|PMID:20537830|PMID:22331132|PMID:23022423|PMID:23533021|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26256905|PMID:26324191|PMID:26474921|PMID:28039895|PMID:28492532|PMID:28587926|PMID:28776642|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31130284|PMID:31181191|PMID:31538484|PMID:31625567|PMID:31728073|PMID:32581362|PMID:32626542|PMID:32917322|PMID:33915153|PMID:34016879|PMID:34678161 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:22184139|PMID:28552422 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:7240710 20130221 OMIM 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16696816|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18083082|PMID:18482588|PMID:19018976|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:20849526|PMID:21119540|PMID:21514256|PMID:22331132|PMID:23022423|PMID:23217326|PMID:23533021|PMID:23820649|PMID:24033266|PMID:24381502|PMID:24594635|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26699824|PMID:26900700|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:31000363|PMID:31319225|PMID:31538484|PMID:32321542|PMID:32581362|PMID:32893960|PMID:33757843|PMID:8666348|PMID:9419367|PMID:9923886 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21056966 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Byler disease PMID:12891548|PMID:17726488|PMID:18482588|PMID:19467940|PMID:19584064|PMID:20422496|PMID:20537830|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23533021|PMID:24723470|PMID:25741868|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26900700|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:31000363|PMID:31538484|PMID:32581362|PMID:32626542|PMID:32917322|PMID:33757843|PMID:34678161 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:736946 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:736946 D RGD:7240710 20140911 OMIM 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10767346|PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16199547|PMID:16696816|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18083082|PMID:18482588|PMID:19018976|PMID:19185004|PMID:19467940|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:20849526|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23217326|PMID:23533021|PMID:23820649|PMID:24033266|PMID:24381502|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25755532|PMID:25807286|PMID:26126923|PMID:26153658|PMID:26324191|PMID:26474921|PMID:26699824|PMID:26900700|PMID:27256251|PMID:28039895|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:31000363|PMID:31130284|PMID:31538484|PMID:31625567|PMID:31728073|PMID:32321542|PMID:32581362|PMID:32626542|PMID:32893960|PMID:32917322|PMID:33390354|PMID:33915153|PMID:34016879|PMID:8666348|PMID:9419367|PMID:9923886 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20040336 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis ISO RGD:736946 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:20040336|PMID:30682444 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:736946 D RGD:14694982|PMID:18671305 20190625 RGD DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human) 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:11094 D RGD:153297773|PMID:21209952 20220726 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis IEP D RGD:1598589|PMID:11680581 20061206 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISO RGD:736946 D RGD:11565494|PMID:26324191 20190620 RGD DNA:mutations: : 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:13580 cholestasis ISS RGD:11094 D RGD:13592920 20180518 MouseDO 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:13603 obstructive jaundice ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:14268 sclerosing cholangitis ISO RGD:11094 D RGD:14694980|PMID:15236191 20190625 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:14268 sclerosing cholangitis ISO RGD:736946 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:16472600|PMID:29808285 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:11094 D RGD:1300325|PMID:8106172 19990101 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:736946 D RGD:14695044|PMID:18781607 20190701 RGD DNA:mutation:exon:c.2362C>T (p.Arg788Trp)(human) 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:19467940|PMID:20422496|PMID:23022423|PMID:23533021|PMID:25741868|PMID:25807286|PMID:26324191|PMID:26474921|PMID:28492532|PMID:28587926|PMID:28776642|PMID:32581362|PMID:32626542|PMID:32917322|PMID:34678161 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis ISS RGD:736946 D RGD:13592920 20180518 MouseDO OMIM:147480 | OMIM:211600 | OMIM:243300 | OMIM:601847 | OMIM:602347 | OMIM:605479 | OMIM:614972 | OMIM:615878 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:1852 intrahepatic cholestasis treatment ISO RGD:736946 D RGD:14695045|PMID:30935993 20190701 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:1949 cholecystitis ISS RGD:736946 D RGD:13592920 20180518 MouseDO OMIM:600803 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:409 liver disease ISO RGD:736946 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29808285 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736946 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8698195|PMID:18221819 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:736946 D RGD:14694975|PMID:18482588 20190620 RGD associated with cholestasis;DNA:mutations: : 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:736946 D RGD:4889446|PMID:19467940 20190620 RGD associated with cystic fibrosis;DNA:SNP:exon:c.504T>C(human) 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:630 genetic disease ISO RGD:736946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9000144 Chronic Disease ISO RGD:736946 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29808285 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9000918 Disease Progression ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:14694981|PMID:24914347 20190625 RGD DNA:missense mutation:cds:p.Thr175Ala(human) 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:7240710 20130221 OMIM 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9004618 Gallbladder Disease 1 ISO RGD:736946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis PMID:11313316|PMID:12891548|PMID:14999697|PMID:15077010|PMID:16763017|PMID:16890614|PMID:17726488|PMID:18482588|PMID:19018976|PMID:19490418|PMID:19584064|PMID:19840255|PMID:20422496|PMID:20537830|PMID:21119540|PMID:22331132|PMID:23022423|PMID:23533021|PMID:24033266|PMID:24381502|PMID:24594635|PMID:24723470|PMID:24806754|PMID:24914347|PMID:25741868|PMID:25807286|PMID:26153658|PMID:26256905|PMID:26324191|PMID:26474921|PMID:26699824|PMID:28355206|PMID:28492532|PMID:28587926|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:32581362|PMID:32893960|PMID:8666348|PMID:9419367 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9005369 Hepatomegaly treatment ISO RGD:11094 D RGD:153297773|PMID:21209952 20220726 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9005372 Inflammation ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1598588|PMID:12055592 20061206 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9006205 Animal Disease Models ISO RGD:736946 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:16472600|PMID:29808285 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9007996 End Stage Liver Disease ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022477 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9439 chronic cholangitis ISO RGD:11094 D RGD:14694983|PMID:17852852 20190625 RGD 620248 Abcb4 ATP binding cassette subfamily B member 4 gene DOID:9446 cholangitis ISO RGD:736946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8698195 620249 Cetn3 centrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620249 Cetn3 centrin 3 gene DOID:630 genetic disease ISO RGD:733085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620249 Cetn3 centrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733085 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620249 Cetn3 centrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62025 Rps14 ribosomal protein S14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62025 Rps14 ribosomal protein S14 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:731753 D RGD:7240710 20130221 OMIM 62025 Rps14 ribosomal protein S14 gene DOID:1227 neutropenia ISO RGD:731753 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 62025 Rps14 ribosomal protein S14 gene DOID:305 carcinoma ISO RGD:731753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 62025 Rps14 ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:731753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62025 Rps14 ribosomal protein S14 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 62025 Rps14 ribosomal protein S14 gene DOID:9002669 Hypoxia ISO RGD:731753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 62025 Rps14 ribosomal protein S14 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731753 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 62025 Rps14 ribosomal protein S14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:0050852 limb ischemia ISO RGD:734164 D RGD:14367880|PMID:26315408 20190213 RGD 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:0060326 myelomeningocele ISO RGD:734163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16237707 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:0080216 duodenal atresia ISO RGD:734164 D RGD:14367883|PMID:21492869 20190213 RGD mRNA:decreased expression:duodenum 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:0080216 duodenal atresia severity ISO RGD:734164 D RGD:14367881|PMID:23021139 20190213 RGD 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:0080855 Parkinsonism ISO RGD:734163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:734550|PMID:12563036 19990101 RGD 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:11198 DiGeorge syndrome ISS RGD:734164 D RGD:13592920 20180518 MouseDO OMIM:188400 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:2717 Bloom syndrome ISO RGD:734163 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:630 genetic disease ISO RGD:734163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:8398 osteoarthritis ISO RGD:734163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24728293 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:7240710 20220921 OMIM 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects PMID:33565183 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16166285 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:9002819 Coronary Occlusion disease_progression ISO RGD:734163 D RGD:14367880|PMID:26315408 20190213 RGD 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:734164 D RGD:14367882|PMID:22927819 20190213 RGD mRNA:increased expression:macrophage 620250 Aldh1a2 aldehyde dehydrogenase 1 family, member A2 gene DOID:9256 colorectal cancer ISO RGD:734163 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620251 P2rx2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:7240710 20131211 OMIM 620251 P2rx2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 41 PMID:12161595|PMID:23345450|PMID:24033266|PMID:24211385|PMID:25741868|PMID:25788561|PMID:28492532|PMID:31636190 620251 P2rx2 purinergic receptor P2X 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:28492532|PMID:30311386|PMID:34652575 620251 P2rx2 purinergic receptor P2X 2 gene DOID:1826 epilepsy ISO RGD:733979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 620251 P2rx2 purinergic receptor P2X 2 gene DOID:630 genetic disease ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 620251 P2rx2 purinergic receptor P2X 2 gene DOID:9002211 Hyperalgesia ISO RGD:733979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 620251 P2rx2 purinergic receptor P2X 2 gene DOID:9256 colorectal cancer ISO RGD:733979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 620252 Aldh1a7 aldehyde dehydrogenase family 1, subfamily A7 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:14367884|PMID:23810746 20190213 RGD mRNA:decreased expression:liver 620252 Aldh1a7 aldehyde dehydrogenase family 1, subfamily A7 gene DOID:9001708 Hemorrhagic Shock severity IEP D RGD:14367885|PMID:21643955 20190213 RGD 620253 P2rx3 purinergic receptor P2X 3 gene DOID:1059 intellectual disability ISO RGD:735321 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620253 P2rx3 purinergic receptor P2X 3 gene DOID:630 genetic disease ISO RGD:735321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620253 P2rx3 purinergic receptor P2X 3 gene DOID:9002211 Hyperalgesia ISO RGD:735321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 620253 P2rx3 purinergic receptor P2X 3 gene DOID:9006062 Nervous System Trauma ISO RGD:735321 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24136739 620254 Abcb9 ATP binding cassette subfamily B member 9 gene DOID:630 genetic disease ISO RGD:733003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620255 Slc6a12 solute carrier family 6 member 12 gene DOID:630 genetic disease ISO RGD:731509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620255 Slc6a12 solute carrier family 6 member 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 620255 Slc6a12 solute carrier family 6 member 12 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731509 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620256 P2rx5 purinergic receptor P2X 5 gene DOID:3613 Canavan disease ISO RGD:737418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 620256 P2rx5 purinergic receptor P2X 5 gene DOID:630 genetic disease ISO RGD:737418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620258 Rcvrn recoverin gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:734065 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 620258 Rcvrn recoverin gene DOID:630 genetic disease ISO RGD:734065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:1353500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353500 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:13515 tuberous sclerosis treatment IDA D RGD:1549429|PMID:12384518 19990101 RGD 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353500 D RGD:150404268|PMID:23632475 20210903 RGD human cells in mouse model 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:607 paraplegia ISO RGD:1353500 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:630 genetic disease ISO RGD:1353500 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1353500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9005372 Inflammation ISO RGD:1353500 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9007102 Myocardial Ischemia IDA D RGD:10401145|PMID:16439989 20150929 RGD 620259 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353500 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 62026 Rps15 ribosomal protein S15 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 62026 Rps15 ribosomal protein S15 gene DOID:3892 insulinoma IEP D RGD:61740|PMID:3019805 20160314 RGD 62026 Rps15 ribosomal protein S15 gene DOID:5339 cyclic hematopoiesis ISO RGD:736357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 62026 Rps15 ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62026 Rps15 ribosomal protein S15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 62026 Rps15 ribosomal protein S15 gene DOID:9000918 Disease Progression ISO RGD:736357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 62026 Rps15 ribosomal protein S15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736357 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620260 S100a3 S100 calcium binding protein A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620260 S100a3 S100 calcium binding protein A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620260 S100a3 S100 calcium binding protein A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620260 S100a3 S100 calcium binding protein A3 gene DOID:10283 prostate cancer ISO RGD:732253 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620260 S100a3 S100 calcium binding protein A3 gene DOID:1540 parathyroid carcinoma ISO RGD:732253 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620260 S100a3 S100 calcium binding protein A3 gene DOID:5812 MHC class II deficiency ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620260 S100a3 S100 calcium binding protein A3 gene DOID:630 genetic disease ISO RGD:732253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620260 S100a3 S100 calcium binding protein A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732253 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620261 Dynlt1 dynein light chain Tctex-type 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 620261 Dynlt1 dynein light chain Tctex-type 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:732244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 620261 Dynlt1 dynein light chain Tctex-type 1 gene DOID:12858 Huntington's disease treatment ISO RGD:2314276 D RGD:13432158|PMID:24282028 20170921 RGD 620261 Dynlt1 dynein light chain Tctex-type 1 gene DOID:630 genetic disease ISO RGD:732244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620263 Cabin1 calcineurin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:732324 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620263 Cabin1 calcineurin binding protein 1 gene DOID:1826 epilepsy ISO RGD:732324 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620263 Cabin1 calcineurin binding protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:732324 D RGD:10054392|PMID:18757082 20150805 RGD DNA:hypermethylation: : 620263 Cabin1 calcineurin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:732324 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620263 Cabin1 calcineurin binding protein 1 gene DOID:630 genetic disease ISO RGD:732324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620263 Cabin1 calcineurin binding protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732324 D RGD:10054391|PMID:22275266 20150805 RGD 620263 Cabin1 calcineurin binding protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:732324 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11248077 620264 S100a6 S100 calcium binding protein A6 gene DOID:0050902 medulloblastoma ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 620264 S100a6 S100 calcium binding protein A6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620264 S100a6 S100 calcium binding protein A6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620264 S100a6 S100 calcium binding protein A6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620264 S100a6 S100 calcium binding protein A6 gene DOID:13100 intracranial vasospasm ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 620264 S100a6 S100 calcium binding protein A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1354055 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620264 S100a6 S100 calcium binding protein A6 gene DOID:305 carcinoma ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620264 S100a6 S100 calcium binding protein A6 gene DOID:5812 MHC class II deficiency ISO RGD:1354055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620264 S100a6 S100 calcium binding protein A6 gene DOID:630 genetic disease ISO RGD:1354055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620264 S100a6 S100 calcium binding protein A6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620264 S100a6 S100 calcium binding protein A6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620264 S100a6 S100 calcium binding protein A6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620264 S100a6 S100 calcium binding protein A6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 620264 S100a6 S100 calcium binding protein A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354055 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620264 S100a6 S100 calcium binding protein A6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354055 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 620265 S100a8 S100 calcium binding protein A8 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620265 S100a8 S100 calcium binding protein A8 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620265 S100a8 S100 calcium binding protein A8 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620265 S100a8 S100 calcium binding protein A8 gene DOID:11054 urinary bladder cancer IEP D RGD:2316906|PMID:17970044 20100302 RGD mRNA:increased expression:urinary bladder 620265 S100a8 S100 calcium binding protein A8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349531 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620265 S100a8 S100 calcium binding protein A8 gene DOID:2773 contact dermatitis ISO RGD:1349531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 620265 S100a8 S100 calcium binding protein A8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349531 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 620265 S100a8 S100 calcium binding protein A8 gene DOID:3310 atopic dermatitis ISO RGD:1349531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18336422 620265 S100a8 S100 calcium binding protein A8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1349531 D RGD:151660329|PMID:32663515 20220303 RGD protein:increased expression:blood (human) 620265 S100a8 S100 calcium binding protein A8 gene DOID:5812 MHC class II deficiency ISO RGD:1349531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620265 S100a8 S100 calcium binding protein A8 gene DOID:630 genetic disease ISO RGD:1349531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620265 S100a8 S100 calcium binding protein A8 gene DOID:820 myocarditis ISO RGD:1349531 D RGD:2316903|PMID:19151078 20100302 RGD 620265 S100a8 S100 calcium binding protein A8 gene DOID:9000058 Keloid ISO RGD:1349531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 620265 S100a8 S100 calcium binding protein A8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 620265 S100a8 S100 calcium binding protein A8 gene DOID:9002457 Experimental Arthritis IEP D RGD:633930|PMID:8343166 20100302 RGD 620265 S100a8 S100 calcium binding protein A8 gene DOID:9005372 Inflammation IEP D RGD:2316912|PMID:15221771 20100302 RGD protein:increased expression:lung 620265 S100a8 S100 calcium binding protein A8 gene DOID:9119 acute myeloid leukemia ISO RGD:1349531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21971985 620265 S100a8 S100 calcium binding protein A8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349531 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352399 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:10283 prostate cancer ISO RGD:1352399 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:13580 cholestasis IEP D RGD:2301085|PMID:15030973 20080925 RGD protein:altered expression:kidney, liver 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:13580 cholestasis treatment IEP D RGD:15045612|PMID:30223280 20191218 RGD 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:13619 extrahepatic cholestasis treatment IEP D RGD:14995480|PMID:29360226 20191213 RGD mRNA:increased expression:liver (rat) 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:1561 cognitive disorder ISO RGD:1352399 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:289 endometriosis ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:303 substance-related disorder ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1352399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:9002661 Diabetes Complications ISO RGD:1352399 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352399 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23222202 620266 Abcc4 ATP binding cassette subfamily C member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620267 S100a9 S100 calcium binding protein A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620267 S100a9 S100 calcium binding protein A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620267 S100a9 S100 calcium binding protein A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620267 S100a9 S100 calcium binding protein A9 gene DOID:10608 celiac disease ISO RGD:1352981 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 620267 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer IEP D RGD:2316906|PMID:17970044 20100302 RGD mRNA:increased expression:urinary bladder 620267 S100a9 S100 calcium binding protein A9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 620267 S100a9 S100 calcium binding protein A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352981 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620267 S100a9 S100 calcium binding protein A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620267 S100a9 S100 calcium binding protein A9 gene DOID:630 genetic disease ISO RGD:1352981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620267 S100a9 S100 calcium binding protein A9 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352981 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 620267 S100a9 S100 calcium binding protein A9 gene DOID:820 myocarditis ISO RGD:1352981 D RGD:2316903|PMID:19151078 20100302 RGD 620267 S100a9 S100 calcium binding protein A9 gene DOID:9000058 Keloid ISO RGD:1352981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 620267 S100a9 S100 calcium binding protein A9 gene DOID:9000955 Acute Otitis Media ISO RGD:8709084 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mucosa of middle ear PMID:26711468|REF_RGD_ID:11553828 620267 S100a9 S100 calcium binding protein A9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620267 S100a9 S100 calcium binding protein A9 gene DOID:9002457 Experimental Arthritis IEP D RGD:633930|PMID:8343166 20100302 RGD 620267 S100a9 S100 calcium binding protein A9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 620267 S100a9 S100 calcium binding protein A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352981 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:0050644 arterial calcification of infancy ISO RGD:734433 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25758222 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:734433 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:12384774|PMID:25741868|PMID:28492532 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:12241 beta thalassemia ISO RGD:734434 D RGD:11038787|PMID:21281810 20160225 RGD mRNA, protein:decreased expression:liver 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:12849 autistic disorder ISO RGD:734433 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:1826 epilepsy ISO RGD:734433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11038778|PMID:15459974 20160225 RGD DNA:mutations:exon, intron:multiple 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11038779|PMID:16392638 20160225 RGD DNA:mutations: :multiple 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11038781|PMID:17617515 20160225 RGD DNA:mutations:exon, intron:multiple 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11038782|PMID:12714611 20160225 RGD DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human) 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11038785|PMID:11692167 20160225 RGD DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human) 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11038786|PMID:16835894 20160225 RGD DNA:mutations:multiple 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:11880368|PMID:12069597|PMID:14667841|PMID:16571645|PMID:17045963|PMID:18049453|PMID:23415960|PMID:25758222 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:7240710 20130221 OMIM 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste PMID:10811882|PMID:10835642|PMID:10835643|PMID:10954200|PMID:11179012|PMID:11427982|PMID:11439001|PMID:11474653|PMID:11493310|PMID:11536079|PMID:11692167|PMID:11702217|PMID:11880368|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:12928920|PMID:14631379|PMID:15086542|PMID:15098239|PMID:15184964|PMID:15459974|PMID:15645653|PMID:15723264|PMID:15727254|PMID:15752294|PMID:15894595|PMID:16086317|PMID:16086762|PMID:16127278|PMID:16199547|PMID:16392638|PMID:16410789|PMID:16541094|PMID:16543900|PMID:16573612|PMID:16835894|PMID:16854481|PMID:17576681|PMID:17617515|PMID:17724214|PMID:17823974|PMID:18157818|PMID:18253096|PMID:18347285|PMID:18513494|PMID:18800149|PMID:19284998|PMID:19339160|PMID:19726431|PMID:19904211|PMID:20034067|PMID:20075945|PMID:20799350|PMID:20801516|PMID:20849526|PMID:21179111|PMID:21935449|PMID:22209248|PMID:23483032|PMID:23572048|PMID:23702584|PMID:24008425|PMID:24033266|PMID:24088041|PMID:24352041|PMID:24727260|PMID:25062064|PMID:25264593|PMID:25265166|PMID:25615550|PMID:25741868|PMID:26029710|PMID:26084751|PMID:26633545|PMID:26982014|PMID:27133371|PMID:27994049|PMID:28041643|PMID:28102862|PMID:28186352|PMID:28492532|PMID:28655553|PMID:28912966|PMID:29709427|PMID:29722917|PMID:29800625|PMID:30154241|PMID:30229859|PMID:30328268|PMID:30537162|PMID:30805891|PMID:31164056|PMID:31240106|PMID:31456290|PMID:32037395|PMID:32372237|PMID:32818659|PMID:32860008|PMID:32873932|PMID:33812167|PMID:33946315|PMID:34440381|PMID:34597610|PMID:9536098 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734434 D RGD:11038737|PMID:16135817 20160223 RGD 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum no_association ISO RGD:734433 D RGD:11038786|PMID:16835894 20160225 RGD DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human) 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:734433 D RGD:737772|PMID:10835643 20061208 RGD 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:3144 cutis laxa ISO RGD:734433 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:10811882|PMID:10835642|PMID:11536079|PMID:12176944|PMID:12384774|PMID:12714611|PMID:16541094|PMID:17617515|PMID:18800149|PMID:22209248|PMID:25741868|PMID:26982014|PMID:28102862|PMID:28492532 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:3393 coronary artery disease ISO RGD:734433 D RGD:11038788|PMID:12176944 20160225 RGD DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human) 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:5419 schizophrenia ISO RGD:734433 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:630 genetic disease ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:8445 intestinal volvulus ISO RGD:734433 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9000524 Generalized Arterial Calcification of Infancy, 2 ISO RGD:734433 D RGD:7240710 20140903 OMIM 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9000524 Generalized Arterial Calcification of Infancy, 2 ISO RGD:734433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 PMID:10811882|PMID:10835642|PMID:11179012|PMID:11439001|PMID:11474653|PMID:11536079|PMID:11702217|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:14631379|PMID:15086542|PMID:15459974|PMID:16086317|PMID:16127278|PMID:16199547|PMID:16410789|PMID:16541094|PMID:16573612|PMID:16835894|PMID:17617515|PMID:18157818|PMID:18253096|PMID:18800149|PMID:19339160|PMID:19726431|PMID:20034067|PMID:21935449|PMID:22209248|PMID:23483032|PMID:24008425|PMID:24033266|PMID:24088041|PMID:25264593|PMID:25265166|PMID:25741868|PMID:26633545|PMID:26982014|PMID:27994049|PMID:28102862|PMID:28492532|PMID:28655553|PMID:29722917|PMID:30154241|PMID:30537162|PMID:30805891|PMID:32873932|PMID:34597610 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9000918 Disease Progression ISO RGD:734433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9002457 Experimental Arthritis IEP D RGD:11038789|PMID:22974786 20160225 RGD mRNA:decreased expression:kidney 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9006205 Animal Disease Models ISO RGD:734433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23415960 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9006273 Pseudoxanthoma Elasticum, Heterozygous ISO RGD:734433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS PMID:10811882|PMID:10835642|PMID:11536079|PMID:12176944|PMID:12384774|PMID:12714611|PMID:16541094|PMID:17617515|PMID:18800149|PMID:22209248|PMID:25741868|PMID:26982014|PMID:28102862|PMID:28492532 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9007096 Stroke ISO RGD:734433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:734433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:734433 D RGD:1331525|PMID:15118671 19990101 GAD 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536079|PMID:12673275|PMID:14631379|PMID:15086542|PMID:17617515|PMID:18347285|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31164056|PMID:32873932 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734433 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620269 P2ry6 pyrimidinergic receptor P2Y6 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 620269 P2ry6 pyrimidinergic receptor P2Y6 gene DOID:1059 intellectual disability ISO RGD:736435 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62027 Rps17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:7240710 20150708 OMIM 62027 Rps17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 PMID:17647292|PMID:19953637|PMID:23718193|PMID:23812780|PMID:25741868 62027 Rps17 ribosomal protein S17 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17647292 62027 Rps17 ribosomal protein S17 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17647292|PMID:19953637|PMID:25741868 62027 Rps17 ribosomal protein S17 gene DOID:2717 Bloom syndrome ISO RGD:1351474 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 62027 Rps17 ribosomal protein S17 gene DOID:9256 colorectal cancer ISO RGD:1351474 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620270 Glp2r glucagon-like peptide 2 receptor gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731561 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 620270 Glp2r glucagon-like peptide 2 receptor gene DOID:630 genetic disease ISO RGD:731561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620271 Clock clock circadian regulator gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1348034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 620271 Clock clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:10401861|PMID:23781009 20151008 RGD DNA:snp:intron:c.982+247G>C (rs1554483) (human) 620271 Clock clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:10401862|PMID:23357097 20151008 RGD DNA:snp:intron:c.560-1279C>G (rs4580704) (human) 620271 Clock clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:10401872|PMID:23912676 20151009 RGD DNA:snp:3' utr:c.3111T>C (human) 620271 Clock clock circadian regulator gene DOID:10763 hypertension IEP D RGD:9686076|PMID:22076133 20151009 RGD mRNA:altered expression:gastrocnemius muscle (rat) 620271 Clock clock circadian regulator gene DOID:13580 cholestasis IEP D RGD:10043349|PMID:21757639 20150521 RGD mRNA:increased expression:cholangiocyte 620271 Clock clock circadian regulator gene DOID:2723 dermatitis ISO RGD:1552430 D RGD:10401871|PMID:21149897 20151009 RGD 620271 Clock clock circadian regulator gene DOID:3312 bipolar disorder ISS RGD:1552430 D RGD:13592920 20180518 MouseDO 620271 Clock clock circadian regulator gene DOID:535 sleep disorder ISS RGD:1552430 D RGD:13592920 20180518 MouseDO 620271 Clock clock circadian regulator gene DOID:630 genetic disease ISO RGD:1348034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620271 Clock clock circadian regulator gene DOID:83 cataract ISO RGD:1552430 D RGD:10401871|PMID:21149897 20151009 RGD 620271 Clock clock circadian regulator gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10043348|PMID:23336172 20150521 RGD protein:increased expression:pineal gland 620271 Clock clock circadian regulator gene DOID:9351 diabetes mellitus ISS RGD:1552430 D RGD:13592920 20180518 MouseDO 620272 Gli3 GLI family zinc finger 3 gene DOID:0060071 pre-malignant neoplasm IEP D RGD:150520178|PMID:30537251 20211101 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:0070067 White-Sutton syndrome ISO RGD:1314553 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 620272 Gli3 GLI family zinc finger 3 gene DOID:0080074 neural tube defect ISO RGD:1314553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16359493 620272 Gli3 GLI family zinc finger 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:19829694|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9302279 620272 Gli3 GLI family zinc finger 3 gene DOID:10892 hypospadias IEP D RGD:12743602|PMID:27079746 20170209 RGD mRNA:decreased expression:male genital tubercle 620272 Gli3 GLI family zinc finger 3 gene DOID:11193 syndactyly ISO RGD:1314553 D RGD:12738225|PMID:25267529 20170130 RGD DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:11193 syndactyly ISO RGD:1314553 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: polysyndactyly 620272 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17688467 620272 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314553 D RGD:12738225|PMID:25267529 20170130 RGD DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314553 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly PMID:10441570|PMID:25741868|PMID:28492532 620272 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314554 D RGD:12738140|PMID:10051311 20170127 RGD DNA:insertion 620272 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314554 D RGD:12738144|PMID:17266131 20170127 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314554 D RGD:12801421|PMID:14597572 20170329 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:11836 clubfoot IEP D RGD:12738235|PMID:19925654 20170131 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:13714 anodontia ISO RGD:1314553 D RGD:12738234|PMID:22984994 20170131 RGD DNA:SNP: :rs929387 (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:14679 VACTERL association ISO RGD:1314554 D RGD:155791680|PMID:11172440 20230105 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9302279|PMID:10441342|PMID:14608643|PMID:15739154|PMID:18154020|PMID:18241058 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:12738141|PMID:22903559 20170127 RGD DNA:mutations:exon, intron:multiple 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:12738205|PMID:24736735 20170130 RGD DNA:mutations: :multiple 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:12738208|PMID:10441342 20170130 RGD DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:12738222|PMID:15739154 20170130 RGD DNA:mutations:exon, intron:multiple 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:7240710 20130221 OMIM 620272 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape PMID:10441342|PMID:10441570|PMID:10678662|PMID:12414818|PMID:12794692|PMID:15739154|PMID:15811011|PMID:16199547|PMID:16740916|PMID:17576681|PMID:18000979|PMID:18435847|PMID:1879832|PMID:19829694|PMID:20583172|PMID:20672375|PMID:22903559|PMID:24736735|PMID:25606469|PMID:25640679|PMID:25741868|PMID:26508445|PMID:27231705|PMID:28166811|PMID:28224613|PMID:28492532|PMID:29236091|PMID:30235038|PMID:30773290|PMID:32591344|PMID:33304378|PMID:34906502|PMID:6641002|PMID:9302279|PMID:9536098 620272 Gli3 GLI family zinc finger 3 gene DOID:1793 pancreatic cancer ISO RGD:1314553 D RGD:5490966|PMID:18772397 20110926 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:1923 disorder of sexual development ISO RGD:1314553 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 620272 Gli3 GLI family zinc finger 3 gene DOID:3263 piebaldism ISO RGD:1314554 D RGD:12738207|PMID:18397875 20170130 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1314553 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 620272 Gli3 GLI family zinc finger 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314553 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620272 Gli3 GLI family zinc finger 3 gene DOID:5082 liver cirrhosis ISO RGD:1314553 D RGD:155791681|PMID:32319630 20230105 RGD mRNA:increased expression:serum: 620272 Gli3 GLI family zinc finger 3 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1314553 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Cronkhite-Canada syndrome 620272 Gli3 GLI family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15739154|PMID:25741868|PMID:28492532 620272 Gli3 GLI family zinc finger 3 gene DOID:674 cleft palate ISO RGD:1314554 D RGD:12738224|PMID:18816854 20170130 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:687 hepatoblastoma ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 620272 Gli3 GLI family zinc finger 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 620272 Gli3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations IEP D RGD:12743602|PMID:27079746 20170209 RGD mRNA:decreased expression:rectum 620272 Gli3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations IEP D RGD:155791683|PMID:25213187 20230106 RGD mRNA:decreased expression:terminal rectum 620272 Gli3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:12738211|PMID:24667698 20170130 RGD DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:12738223|PMID:9354785 20170130 RGD DNA:nonsense mutation: :p.K778X (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:7240710 20131030 OMIM 620272 Gli3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B PMID:10441342|PMID:10441570|PMID:12794692|PMID:15739154|PMID:16199547|PMID:18000979|PMID:22428873|PMID:22903559|PMID:24736735|PMID:25741868|PMID:26508445|PMID:28315472|PMID:28492532|PMID:9354785 620272 Gli3 GLI family zinc finger 3 gene DOID:9005219 Abnormal Reflexes ISO RGD:1314553 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:28492532 620272 Gli3 GLI family zinc finger 3 gene DOID:9005660 Hypopigmentation ISO RGD:1314553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18397875 620272 Gli3 GLI family zinc finger 3 gene DOID:9007878 Crossed Polydactyly, Type I ISO RGD:1314553 D RGD:12738209|PMID:16874813 20170130 RGD DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 620272 Gli3 GLI family zinc finger 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314553 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:21326280|PMID:22903559|PMID:24736735|PMID:25741868 620272 Gli3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:12738141|PMID:22903559 20170127 RGD DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:12738221|PMID:15811011 20170130 RGD DNA:nonsense mutation:exon:p.R290X (C868T) (human) 620272 Gli3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:7240710 20130221 OMIM 620272 Gli3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Preaxial polydactyly 4 PMID:10441570|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15739154|PMID:21532573 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:12738205|PMID:24736735 20170130 RGD DNA:deletions 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:12738222|PMID:15739154 20170130 RGD DNA:mutations:exon, intron:multiple 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:1599838|PMID:9054938 20070216 RGD DNA:frameshift deletions 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:7240710 20130221 OMIM 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:10441570|PMID:10945658|PMID:12545275|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002|PMID:9054938|PMID:9148633 620272 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314554 D RGD:12738143|PMID:11978771 20170127 RGD 620272 Gli3 GLI family zinc finger 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314553 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 620273 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620273 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:733552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620273 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733552 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620273 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620274 Amph amphiphysin gene DOID:0080600 COVID-19 ISO RGD:733884 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620274 Amph amphiphysin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733884 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620274 Amph amphiphysin gene DOID:630 genetic disease ISO RGD:733884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620275 Btc betacellulin gene DOID:10754 otitis media IEP D RGD:2306978|PMID:12148846 20090513 RGD mRNA:decreased expression:middle ear 620275 Btc betacellulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:736353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 620275 Btc betacellulin gene DOID:3892 insulinoma ISO RGD:736353 D RGD:2326087|PMID:10724350 20100623 RGD protein:increased expression:pancreas 620275 Btc betacellulin gene DOID:630 genetic disease ISO RGD:736353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620275 Btc betacellulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620275 Btc betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733574 D RGD:2313774|PMID:19819964 20091014 RGD 620275 Btc betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736353 D RGD:1357906|PMID:14988244 20090513 RGD 620275 Btc betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736353 D RGD:2306965|PMID:18388935 20090513 RGD 620275 Btc betacellulin gene DOID:9007821 Glucagonoma ISO RGD:736353 D RGD:2326087|PMID:10724350 20100623 RGD protein:increased expression:pancreas 620275 Btc betacellulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736353 D RGD:2306967|PMID:16306376 20090513 RGD DNA:polymorphism:promoter:-226A/G (human) 620275 Btc betacellulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736353 D RGD:2306973|PMID:15793259 20090513 RGD DNA:polymorphism:exon:p.C7G (human) 620275 Btc betacellulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736353 D RGD:2306966|PMID:16683131 20090513 RGD DNA:polymorphism:intron:IVS4-4C>T (human) 620276 Sh3gl2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:11832 visual epilepsy IEP D RGD:13464355|PMID:14751282 20180108 RGD 620276 Sh3gl2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:630 genetic disease ISO RGD:1343139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620278 Slco6b1 solute carrier organic anion transporter family member 6B1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620278 Slco6b1 solute carrier organic anion transporter family member 6B1 gene DOID:630 genetic disease ISO RGD:1353358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620278 Slco6b1 solute carrier organic anion transporter family member 6B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353358 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620278 Slco6b1 solute carrier organic anion transporter family member 6B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350844 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:7240710 20170503 OMIM 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:10210708|PMID:10361383|PMID:10522996|PMID:10599709|PMID:10675358|PMID:10848616|PMID:11113848|PMID:11443184|PMID:11549627|PMID:11738790|PMID:11748841|PMID:11788621|PMID:12519885|PMID:12629128|PMID:15841486|PMID:16459121|PMID:16684822|PMID:17164309|PMID:17504899|PMID:17576681|PMID:17587282|PMID:18339285|PMID:19672728|PMID:20573681|PMID:20685758|PMID:21408189|PMID:21739173|PMID:21925982|PMID:22761912|PMID:23018754|PMID:23384712|PMID:23512386|PMID:25741868|PMID:26467025|PMID:26500747|PMID:26980296|PMID:28492532|PMID:28546232|PMID:31263616|PMID:34193132|PMID:6891556|PMID:7609262|PMID:7990953|PMID:7990958|PMID:8636263|PMID:8855822|PMID:9003500|PMID:9063431|PMID:9195207|PMID:9360549|PMID:9415399|PMID:9536098 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:7240710 20140122 OMIM 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 2 PMID:9486644 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:12849 autistic disorder ISO RGD:1350844 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:14228 oligospermia ISO RGD:1350844 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:23384712 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:1924 hypogonadism ISO RGD:1350844 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:7990958 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:630 genetic disease ISO RGD:1350844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:9003809 Isolated Mineralocorticoid Deficiency ISO RGD:1350844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated PMID:17164309|PMID:25741868 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350844 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62028 Nr0b1 nuclear receptor subfamily 0, group B, member 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350844 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 620280 Prok2 prokineticin 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 620280 Prok2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:7240710 20190102 OMIM 620280 Prok2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia PMID:17054399|PMID:17959774|PMID:18285834|PMID:18559922|PMID:18682503|PMID:23643382|PMID:24423319|PMID:25741868|PMID:26141714|PMID:26467025|PMID:28492532|PMID:31200363 620280 Prok2 prokineticin 2 gene DOID:13938 amenorrhea ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 620280 Prok2 prokineticin 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 620280 Prok2 prokineticin 2 gene DOID:1923 disorder of sexual development ISO RGD:1350776 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 620280 Prok2 prokineticin 2 gene DOID:3614 Kallmann syndrome ISO RGD:1350776 D RGD:11554173 20190108 CTD CTD Direct Evidence: marker/mechanism 620280 Prok2 prokineticin 2 gene DOID:630 genetic disease ISO RGD:1350776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620280 Prok2 prokineticin 2 gene DOID:9002211 Hyperalgesia ISO RGD:1350776 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 620281 Msmo1 methylsterol monooxygenase 1 gene DOID:630 genetic disease ISO RGD:737148 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21285510 620281 Msmo1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:7240710 20190315 OMIM 620281 Msmo1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis PMID:21285510|PMID:24144731 620282 Golga2 golgin A2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 620282 Golga2 golgin A2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 620282 Golga2 golgin A2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 620282 Golga2 golgin A2 gene DOID:440 neuromuscular disease ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868|PMID:34424553 620282 Golga2 golgin A2 gene DOID:630 genetic disease ISO RGD:1347402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620282 Golga2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:7240710 20230215 OMIM 620282 Golga2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities PMID:25741868|PMID:26742501|PMID:30237576|PMID:34424553 620283 Foxo1 forkhead box O1 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:737156 D RGD:155630604|PMID:17254969 20221025 RGD 620283 Foxo1 forkhead box O1 gene DOID:0080208 non-alcoholic fatty liver disease treatment IMP D RGD:14401598|PMID:30186875 20190514 RGD associated with Diabetes Mellitus, Experimental 620283 Foxo1 forkhead box O1 gene DOID:10126 keratoconus ISO RGD:737155 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 620283 Foxo1 forkhead box O1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737155 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors, also lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) (human) 620283 Foxo1 forkhead box O1 gene DOID:255 hemangioma ISO RGD:737156 D RGD:155630604|PMID:17254969 20221025 RGD 620283 Foxo1 forkhead box O1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:737155 D RGD:7240710 20190315 OMIM 620283 Foxo1 forkhead box O1 gene DOID:6000 congestive heart failure ISO RGD:737155 D RGD:1582564|PMID:16952980 20061113 RGD 620283 Foxo1 forkhead box O1 gene DOID:630 genetic disease ISO RGD:737155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620283 Foxo1 forkhead box O1 gene DOID:6432 pulmonary hypertension ISO RGD:737155 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 620283 Foxo1 forkhead box O1 gene DOID:684 hepatocellular carcinoma ISO RGD:737155 D RGD:14401599|PMID:28972178 20190514 RGD mRNA:decreased expression:liver 620283 Foxo1 forkhead box O1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:38599216|PMID:29323718 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) 620283 Foxo1 forkhead box O1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737155 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 620283 Foxo1 forkhead box O1 gene DOID:9002644 Premature Aging ISO RGD:737156 D RGD:10045361|PMID:23673876 20150609 RGD 620283 Foxo1 forkhead box O1 gene DOID:9007692 Insulin Resistance IEP D RGD:1599150|PMID:16041833 20150609 RGD mRNA:increased expression:adipose tissue: 620283 Foxo1 forkhead box O1 gene DOID:9119 acute myeloid leukemia ISO RGD:737155 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 620283 Foxo1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737156 D RGD:10044264|PMID:22417654 20150608 RGD protein:altered localization:nucleus, islet cell: 620283 Foxo1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737156 D RGD:10044265|PMID:20736318 20150608 RGD 620283 Foxo1 forkhead box O1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737156 D RGD:10045358|PMID:15546000 20150609 RGD protein:altered localization:nucleus,liver cell: 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0050873 follicular lymphoma ISO RGD:732120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:7240710 20190315 OMIM 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:732120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:630 genetic disease ISO RGD:732120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:8398 osteoarthritis ISO RGD:732120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:732120 D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:23994350|PMID:25915598 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:732120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25915598 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:7240710 20191113 OMIM 620284 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy PMID:18541964|PMID:23994350|PMID:25741868|PMID:25915598 620285 Fabp9 fatty acid binding protein 9 gene DOID:630 genetic disease ISO RGD:1343200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620286 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:11372 megacolon ISO RGD:734018 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620286 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:1205 allergic disease ISO RGD:734018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620286 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:2843 long QT syndrome ISO RGD:734018 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620286 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:552 pneumonia ISO RGD:734018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620286 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:630 genetic disease ISO RGD:734018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620286 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:9000918 Disease Progression ISO RGD:734018 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620287 Mybph myosin binding protein H gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620287 Mybph myosin binding protein H gene DOID:10763 hypertension IAGP D RGD:12802369|PMID:23460292 20200528 RGD DNA:missense mutations:cds:p.I?T, p.R?K (rat) 620287 Mybph myosin binding protein H gene DOID:1540 parathyroid carcinoma ISO RGD:734272 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620287 Mybph myosin binding protein H gene DOID:630 genetic disease ISO RGD:734272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620287 Mybph myosin binding protein H gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620287 Mybph myosin binding protein H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734272 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620288 Calr calreticulin gene DOID:0050731 vitamin B12 deficiency IEP D RGD:11352764|PMID:25982389 20160719 RGD protein:increased expression:kidney (rat) 620288 Calr calreticulin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:mouth (human) PMID:23375593|REF_RGD_ID:150521688 620288 Calr calreticulin gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:731575 D RGD:150520158|PMID:28599487 20211027 RGD protein:increased expression:oral epithelium (human) 620288 Calr calreticulin gene DOID:0050990 episodic ataxia type 2 ISO RGD:731575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 620288 Calr calreticulin gene DOID:0070004 myeloid neoplasm ISO RGD:731575 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 620288 Calr calreticulin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 620288 Calr calreticulin gene DOID:0111254 glutaric acidemia I ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 620288 Calr calreticulin gene DOID:10534 stomach cancer disease_progression ISO RGD:731575 D RGD:150521680|PMID:31725767 20211116 RGD protein:increased expression:stomach (human) 620288 Calr calreticulin gene DOID:10534 stomach cancer exacerbates ISO RGD:731575 D RGD:150521686|PMID:19050968 20211116 RGD protein:increased expression:stomach (human) 620288 Calr calreticulin gene DOID:1324 lung cancer ISO RGD:731575 D RGD:150521678|PMID:24111870 20211116 RGD protein:increased expression:blood serum (human) 620288 Calr calreticulin gene DOID:1324 lung cancer ISO RGD:731575 D RGD:150521704|PMID:22083347 20211116 RGD protein:increased expression:blood serum (human) 620288 Calr calreticulin gene DOID:1324 lung cancer treatment ISO RGD:1550061 D RGD:150521699|PMID:32161598 20211116 RGD 620288 Calr calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:150520159|PMID:26314964 20211027 RGD 620288 Calr calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:150521700|PMID:12215887 20211116 RGD human cells and recombinant gene in a mouse model 620288 Calr calreticulin gene DOID:1520 colon carcinoma treatment ISO RGD:731575 D RGD:150521687|PMID:9858521 20211116 RGD human cells and recombinant protein in a mouse model 620288 Calr calreticulin gene DOID:169 neuroendocrine tumor exacerbates ISO RGD:731575 D RGD:150521697|PMID:16293970 20211116 RGD human cells and recombinant protein in a mouse model 620288 Calr calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:1550061 D RGD:150521684|PMID:17187072 20211116 RGD 620288 Calr calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:731575 D RGD:150521693|PMID:20480531 20211116 RGD protein:increased expression:colon (human) 620288 Calr calreticulin gene DOID:219 colon cancer treatment ISO RGD:1550061 D RGD:150521692|PMID:19881547 20211116 RGD 620288 Calr calreticulin gene DOID:219 colon cancer treatment ISO RGD:1550061 D RGD:150521694|PMID:29573475 20211116 RGD 620288 Calr calreticulin gene DOID:219 colon cancer treatment ISO RGD:731575 D RGD:150521701|PMID:19256344 20211116 RGD human cell line and recombinant gene in a mouse model 620288 Calr calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:11352747|PMID:25860380 20160718 RGD DNA:mutations:multiple (human) 620288 Calr calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:7240710 20140212 OMIM 620288 Calr calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:24325356|PMID:24325359|PMID:25741868 620288 Calr calreticulin gene DOID:2224 essential thrombocythemia severity ISO RGD:731575 D RGD:11352751|PMID:24496303 20160719 RGD DNA:mutations:multiple (human) 620288 Calr calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:11352752|PMID:26608331 20160719 RGD human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human) 620288 Calr calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism 620288 Calr calreticulin gene DOID:234 colon adenocarcinoma ISO RGD:1550061 D RGD:150521683|PMID:18812201 20211116 RGD 620288 Calr calreticulin gene DOID:2394 ovarian cancer treatment ISO RGD:731575 D RGD:150520159|PMID:26314964 20211027 RGD 620288 Calr calreticulin gene DOID:3121 gallbladder cancer exacerbates ISO RGD:731575 D RGD:150521682|PMID:33591948 20211116 RGD mRNA, protein:increased expression:gall bladder (human) 620288 Calr calreticulin gene DOID:3413 alpha-mannosidosis ISO RGD:731575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 620288 Calr calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:150520160|PMID:33028359 20211027 RGD human cells in mouse model 620288 Calr calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:150521706|PMID:29072694 20211116 RGD human cells in a mouse model 620288 Calr calreticulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731575 D RGD:2326165|PMID:15289361 20100628 RGD protein:increased expression:pancreatic duct 620288 Calr calreticulin gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1550061 D RGD:150521705|PMID:25619450 20211116 RGD human cell line and construct in a mouse model 620288 Calr calreticulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731575 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 620288 Calr calreticulin gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:731575 D RGD:150521679|PMID:23814025 20211116 RGD human cells in a mouse model 620288 Calr calreticulin gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:731575 D RGD:150521703|PMID:19684620 20211116 RGD human cells in a mouse model 620288 Calr calreticulin gene DOID:3770 pulmonary fibrosis ISO RGD:1550061 D RGD:2326172|PMID:18563736 20100628 RGD protein:increased expression:lung 620288 Calr calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:150521685|PMID:26842877 20211116 RGD protein:increased expression:lung (human) 620288 Calr calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:150521696|PMID:29228584 20211116 RGD mRNA, protein:increased expression:lung (human) 620288 Calr calreticulin gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731575 D RGD:150521698|PMID:18245558 20211116 RGD human cells and recombinant gene in a mouse model 620288 Calr calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:11352747|PMID:25860380 20160718 RGD DNA:mutations:multiple (human) 620288 Calr calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:11352753|PMID:24997152 20160719 RGD DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47 (human) 620288 Calr calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:7240710 20140212 OMIM 620288 Calr calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:24325356|PMID:24325359|PMID:25741868 620288 Calr calreticulin gene DOID:6000 congestive heart failure ISS RGD:1550061 D RGD:13592920 20180518 MouseDO 620288 Calr calreticulin gene DOID:630 genetic disease ISO RGD:731575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620288 Calr calreticulin gene DOID:684 hepatocellular carcinoma ISO RGD:731575 D RGD:150521690|PMID:12096119 20211116 RGD 620288 Calr calreticulin gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731575 D RGD:150521681|PMID:27055635 20211116 RGD protein:increased expression:liver (human) 620288 Calr calreticulin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731575 D RGD:150521691|PMID:24997628 20211116 RGD human cells and recombinant gene in a mouse model 620288 Calr calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:150521687|PMID:9858521 20211116 RGD human cells and recombinant protein in a mouse model 620288 Calr calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:150521702|PMID:10961892 20211116 RGD human cell line and recombinant protein in a mouse model 620288 Calr calreticulin gene DOID:8955 sideroblastic anemia ISO RGD:731575 D RGD:11352763|PMID:24325359 20160719 RGD DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) 620288 Calr calreticulin gene DOID:9000784 Fibrosis disease_progression IEP D RGD:2326172|PMID:18563736 20100628 RGD associated with kidney disease; mRNA, protein:increased expression:kidney cortex 620288 Calr calreticulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 620288 Calr calreticulin gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:731575 D RGD:11352758|PMID:27013444 20160719 RGD associated with Myelofibrosis;DNA:missense mutations:cds:multiple (human) 620288 Calr calreticulin gene DOID:9004118 Experimental Melanoma ISO RGD:731575 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16388313 620288 Calr calreticulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 620288 Calr calreticulin gene DOID:9007102 Myocardial Ischemia ISO RGD:731575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620288 Calr calreticulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:731575 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17187072 620288 Calr calreticulin gene DOID:9119 acute myeloid leukemia ISO RGD:731575 D RGD:11076986|PMID:26640226 20160718 RGD mRNA:increased expression:peripheral blood (human) 620288 Calr calreticulin gene DOID:9256 colorectal cancer ISO RGD:731575 D RGD:150521695|PMID:26913609 20211116 RGD protein:decreased expression:colorectum (human) 620288 Calr calreticulin gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731575 D RGD:150521689|PMID:31956372 20211116 RGD protein:increased expression:epithelium of nasopharynx (human) 620288 Calr calreticulin gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:731575 D RGD:150520157|PMID:31632490 20211027 RGD protein:increased expression:epithelium of nasopharynx (human) 620289 Trim28 tripartite motif-containing 28 gene DOID:10283 prostate cancer ISO RGD:736265 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620289 Trim28 tripartite motif-containing 28 gene DOID:1936 atherosclerosis ISO RGD:736265 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31351049 620289 Trim28 tripartite motif-containing 28 gene DOID:2154 nephroblastoma ISO RGD:736265 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:32699065 620289 Trim28 tripartite motif-containing 28 gene DOID:630 genetic disease ISO RGD:736265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620289 Trim28 tripartite motif-containing 28 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736265 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 62029 Myh6 myosin heavy chain 6 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16199547|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29132927 62029 Myh6 myosin heavy chain 6 gene DOID:0050451 Brugada syndrome ISO RGD:737147 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 62029 Myh6 myosin heavy chain 6 gene DOID:0050700 cardiomyopathy ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15998695|PMID:16199547|PMID:20215591|PMID:20656787|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26350513|PMID:26383259|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28611029|PMID:28771489|PMID:28797094|PMID:28991257|PMID:29332214|PMID:29420653|PMID:29511324|PMID:29517769|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31308319|PMID:31376648|PMID:32004434 62029 Myh6 myosin heavy chain 6 gene DOID:0050700 cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26350513|PMID:26383259|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28611029|PMID:28771489|PMID:28797094|PMID:28991257|PMID:29332214|PMID:29420653|PMID:29511324|PMID:29517769|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31308319|PMID:31376648|PMID:31737537|PMID:31847883|PMID:32004434|PMID:32277046|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:0050820 atrioventricular block ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV Block Third Degree Adverse Event PMID:17576681|PMID:28492532|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:0060224 atrial fibrillation ISO RGD:737147 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 62029 Myh6 myosin heavy chain 6 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:737147 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy 62029 Myh6 myosin heavy chain 6 gene DOID:0060319 cardiac arrest ISO RGD:737147 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868 62029 Myh6 myosin heavy chain 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:737147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:0060480 left ventricular noncompaction ISO RGD:737147 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:24033266|PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:0070197 distal myopathy 1 ISO RGD:737147 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 62029 Myh6 myosin heavy chain 6 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733823 D RGD:11065341|PMID:8614836 20170315 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11815426 62029 Myh6 myosin heavy chain 6 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15998695|PMID:20215591|PMID:20458009|PMID:20656787|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26656175|PMID:27194543|PMID:27650965|PMID:27760138|PMID:27789736|PMID:28074886|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:29368431|PMID:29511324|PMID:29875424|PMID:30282064|PMID:30403391|PMID:30775854|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32880476|PMID:33325730|PMID:35026164|PMID:35621855 62029 Myh6 myosin heavy chain 6 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:0110108 atrial heart septal defect 3 ISO RGD:737147 D RGD:7240710 20141216 OMIM 62029 Myh6 myosin heavy chain 6 gene DOID:0110108 atrial heart septal defect 3 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:11815426|PMID:15735645|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34298581|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 62029 Myh6 myosin heavy chain 6 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11815426|PMID:15998695|PMID:16199547|PMID:16858239|PMID:17576681|PMID:20031618|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20458009|PMID:20656787|PMID:21302287|PMID:21378987|PMID:21483645|PMID:21822268|PMID:21835320|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23674513|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27760138|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29511324|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30282064|PMID:30293987|PMID:30385303|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:35621855|PMID:7731997|PMID:9172070|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:737147 D RGD:7240710 20130425 OMIM 62029 Myh6 myosin heavy chain 6 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:11815426|PMID:15735645|PMID:15998695|PMID:16199547|PMID:17576681|PMID:19336582|PMID:20215591|PMID:20458009|PMID:20656787|PMID:21378987|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25500235|PMID:25717017|PMID:25741868|PMID:25931334|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26284702|PMID:26350513|PMID:26383259|PMID:26458567|PMID:26573135|PMID:26656175|PMID:26735901|PMID:27058611|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27707468|PMID:27760138|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28323875|PMID:28416588|PMID:28491533|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28853722|PMID:28902392|PMID:28991257|PMID:29050564|PMID:29132927|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29536580|PMID:29582157|PMID:29590334|PMID:29687901|PMID:29697798|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29988065|PMID:30029678|PMID:30086531|PMID:30165862|PMID:30282064|PMID:30293987|PMID:30385303|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30959811|PMID:30975432|PMID:31308319|PMID:31376648|PMID:31513939|PMID:31514951|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32183154|PMID:32233023|PMID:32277046|PMID:32410215|PMID:32512245|PMID:32656206|PMID:32746448|PMID:32764337|PMID:32840935|PMID:32880476|PMID:32969603|PMID:32978841|PMID:33082984|PMID:33131162|PMID:33325730|PMID:33500567|PMID:33658040|PMID:33874732|PMID:34045587|PMID:34088380|PMID:34426522|PMID:34598319|PMID:34805759|PMID:35026164|PMID:35208637|PMID:35456442|PMID:35621855|PMID:7731997|PMID:9172070|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28082330|PMID:28492532|PMID:33500567 62029 Myh6 myosin heavy chain 6 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28082330|PMID:28492532|PMID:33500567 62029 Myh6 myosin heavy chain 6 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15998695|PMID:20215591|PMID:21483645|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:27788187|PMID:28492532|PMID:29687901 62029 Myh6 myosin heavy chain 6 gene DOID:0110453 dilated cardiomyopathy 1EE ISO RGD:737147 D RGD:7240710 20130425 OMIM 62029 Myh6 myosin heavy chain 6 gene DOID:0110453 dilated cardiomyopathy 1EE ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:11815426|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:26656175|PMID:27194543|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28088328|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:0111267 hyaline body myopathy ISO RGD:737147 D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy 62029 Myh6 myosin heavy chain 6 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT 62029 Myh6 myosin heavy chain 6 gene DOID:10969 hemiplegia ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:15998695|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:114 heart disease ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Heart disease PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883 62029 Myh6 myosin heavy chain 6 gene DOID:11720 distal myopathy ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY 62029 Myh6 myosin heavy chain 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737147 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:15998695|PMID:29741611 62029 Myh6 myosin heavy chain 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15998695|PMID:20656787|PMID:22011241|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:27600940|PMID:27789736|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29255176|PMID:29332214|PMID:29420653|PMID:29875424|PMID:30847666|PMID:30868567|PMID:31376648|PMID:31513939|PMID:31737537|PMID:32880476|PMID:32969603 62029 Myh6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15998695 62029 Myh6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:25741868|PMID:27194543|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28166811|PMID:28416588|PMID:28492532|PMID:29875424|PMID:31513939 62029 Myh6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:27194543|PMID:27532257|PMID:27788187|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29420653|PMID:29687901|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31514951|PMID:31737537 62029 Myh6 myosin heavy chain 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15998695|PMID:20215591|PMID:20656787|PMID:21483645|PMID:22011241|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:27194543|PMID:27532257|PMID:27788187|PMID:27789736|PMID:28082330|PMID:28088328|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29420653|PMID:29687901|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31514951|PMID:31737537|PMID:32880476|PMID:33500567 62029 Myh6 myosin heavy chain 6 gene DOID:13884 sick sinus syndrome ISO RGD:737147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378987 62029 Myh6 myosin heavy chain 6 gene DOID:1459 hypothyroidism IEP D RGD:12798563|PMID:1703406 20170327 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:1682 congenital heart disease ISO RGD:737147 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28991257 62029 Myh6 myosin heavy chain 6 gene DOID:1682 congenital heart disease ISO RGD:737147 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25326635|PMID:25741868 62029 Myh6 myosin heavy chain 6 gene DOID:1882 atrial heart septal defect ISO RGD:737147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15735645 62029 Myh6 myosin heavy chain 6 gene DOID:1882 atrial heart septal defect ISO RGD:737147 D RGD:1580922|PMID:15735645 19990101 RGD DNA:missense mutation:p.I820N (human) 62029 Myh6 myosin heavy chain 6 gene DOID:1882 atrial heart septal defect ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:28750076 62029 Myh6 myosin heavy chain 6 gene DOID:2843 long QT syndrome ISO RGD:737147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:2843 long QT syndrome ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25351510|PMID:25741868|PMID:26383259|PMID:28492532|PMID:28600387|PMID:30847666 62029 Myh6 myosin heavy chain 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737147 D RGD:12792281|PMID:26284702 20170315 RGD DNA:missense mutation:exon:p.E1885K (c.5653G>A) (human) 62029 Myh6 myosin heavy chain 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532|PMID:32233023 62029 Myh6 myosin heavy chain 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:737147 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:5844 myocardial infarction IEP D RGD:11565830|PMID:15090263 20170317 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:6000 congestive heart failure ISO RGD:737147 D RGD:1580923|PMID:9410916 19990101 RGD mRNA:decreased expression:heart left ventricle 62029 Myh6 myosin heavy chain 6 gene DOID:6000 congestive heart failure ISO RGD:737147 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:20656787|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:6000 congestive heart failure treatment IEP D RGD:12792974|PMID:18088389 20170317 RGD associated with Myocardial Infarction 62029 Myh6 myosin heavy chain 6 gene DOID:630 genetic disease ISO RGD:737147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20656787|PMID:21378987|PMID:22955375|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26085007|PMID:26573135|PMID:27650965|PMID:27789736|PMID:28074886|PMID:28492532|PMID:29511324|PMID:30775854|PMID:33658040 62029 Myh6 myosin heavy chain 6 gene DOID:6364 migraine ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:15998695|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:9000184 Ventricular Fibrillation ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:28600387 62029 Myh6 myosin heavy chain 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:737147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28491533|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 62029 Myh6 myosin heavy chain 6 gene DOID:9001215 Sick Sinus Syndrome 3 ISO RGD:737147 D RGD:7240710 20210811 OMIM 62029 Myh6 myosin heavy chain 6 gene DOID:9001215 Sick Sinus Syndrome 3 ISO RGD:737147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:11815426|PMID:15998695|PMID:16199547|PMID:17576681|PMID:20215591|PMID:20656787|PMID:21378987|PMID:21483645|PMID:21822268|PMID:22011241|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24120998|PMID:24123366|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25717017|PMID:25741868|PMID:26085007|PMID:26220970|PMID:26272908|PMID:26458567|PMID:27483260|PMID:27532257|PMID:27788187|PMID:27789736|PMID:27930701|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28902392|PMID:28991257|PMID:29050564|PMID:29247119|PMID:29255176|PMID:29332214|PMID:29368431|PMID:29420653|PMID:29582157|PMID:29590334|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29915097|PMID:30293987|PMID:30403391|PMID:30471092|PMID:30716529|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31983221|PMID:32004434|PMID:32277046|PMID:32512245|PMID:32746448|PMID:32880476|PMID:32969603|PMID:33325730|PMID:33500567|PMID:34088380|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35208637|PMID:9536098 62029 Myh6 myosin heavy chain 6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:733823|RGD:737147 D RGD:12792956|PMID:10199887 20170316 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737147 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:27789736|PMID:28492532|PMID:29332214|PMID:30868567|PMID:31376648 62029 Myh6 myosin heavy chain 6 gene DOID:9003163 Heart Block ISO RGD:737147 D RGD:8554872 20200317 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 62029 Myh6 myosin heavy chain 6 gene DOID:9003936 Cardiomegaly IEP D RGD:12798563|PMID:1703406 20170327 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:12792943|PMID:2950137 20170316 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:733823 D RGD:12792940|PMID:17592507 20170316 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 62029 Myh6 myosin heavy chain 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737147 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:9005930 Endotoxemia IEP D RGD:12792976|PMID:7874842 20170317 RGD 62029 Myh6 myosin heavy chain 6 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:737147 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:24120998|PMID:25741868|PMID:27483260|PMID:27789736|PMID:28492532|PMID:29875424|PMID:30847666|PMID:32880476|PMID:35208637 62029 Myh6 myosin heavy chain 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737147 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:15998695|PMID:20215591|PMID:22194935|PMID:22361390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:25741868|PMID:27194543|PMID:28088328|PMID:28492532 62029 Myh6 myosin heavy chain 6 gene DOID:9775 diastolic heart failure ISO RGD:737147 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 620292 Tle3 TLE family member 3, transcriptional corepressor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620292 Tle3 TLE family member 3, transcriptional corepressor gene DOID:2717 Bloom syndrome ISO RGD:1351900 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620292 Tle3 TLE family member 3, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1351900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620292 Tle3 TLE family member 3, transcriptional corepressor gene DOID:7148 rheumatoid arthritis ISO RGD:1351900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 620292 Tle3 TLE family member 3, transcriptional corepressor gene DOID:9008939 Breast Neoplasms ISO RGD:1351900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 620292 Tle3 TLE family member 3, transcriptional corepressor gene DOID:9256 colorectal cancer ISO RGD:1351900 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620293 Ece1 endothelin converting enzyme 1 gene DOID:0050855 renal fibrosis IEP D RGD:7244179|PMID:11078391 20130528 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney 620293 Ece1 endothelin converting enzyme 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 620293 Ece1 endothelin converting enzyme 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 620293 Ece1 endothelin converting enzyme 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 620293 Ece1 endothelin converting enzyme 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9915973 620293 Ece1 endothelin converting enzyme 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 620293 Ece1 endothelin converting enzyme 1 gene DOID:10652 Alzheimer's disease ISO RGD:731823 D RGD:1580902|PMID:15340356 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension IDA D RGD:1580907|PMID:12193123 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension IEP D RGD:7244182|PMID:10894793 20130528 RGD mRNA,protein:increased expression,increased activity:kidney medulla 620293 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12566389 620293 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620293 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:731823 D RGD:7240710 20230510 OMIM 620293 Ece1 endothelin converting enzyme 1 gene DOID:11465 autonomic nervous system disease ISO RGD:731823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9915973 620293 Ece1 endothelin converting enzyme 1 gene DOID:1184 nephrotic syndrome IEP D RGD:7244242|PMID:12972712 20130529 RGD mRNA,protein:increased expression:kidney: 620293 Ece1 endothelin converting enzyme 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731823 D RGD:1580911|PMID:11145756 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:1682 congenital heart disease ISO RGD:731823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9449665|PMID:9915973 620293 Ece1 endothelin converting enzyme 1 gene DOID:3021 acute kidney failure IEP D RGD:7244185|PMID:10073607 20130528 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:3021 acute kidney failure IMP D RGD:7244180|PMID:11043448 20130528 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:1580909|PMID:10973835 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:7244168|PMID:8994440 20130523 RGD protein:increased expression:smooth muscle cell,macrophage 620293 Ece1 endothelin converting enzyme 1 gene DOID:3454 brain infarction ISO RGD:1552140 D RGD:1580908|PMID:15485550 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:5844 myocardial infarction ISO RGD:731823 D RGD:1580912|PMID:9607404 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure IEP D RGD:7244244|PMID:9595392 20130529 RGD mRNA,protein:increased expression:kidney: 620293 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure IMP D RGD:7243876|PMID:19596829 20130520 RGD associated with myocardial ischemia 620293 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:731823 D RGD:1580911|PMID:11145756 19990101 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:630 genetic disease ISO RGD:731823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620293 Ece1 endothelin converting enzyme 1 gene DOID:6406 double outlet right ventricle ISS RGD:1552140 D RGD:13592920 20180518 MouseDO OMIM:217095 620293 Ece1 endothelin converting enzyme 1 gene DOID:6432 pulmonary hypertension IMP D RGD:7243939|PMID:18767389 20130521 RGD associated with Anoxia; 620293 Ece1 endothelin converting enzyme 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:7243952|PMID:16170464 20130521 RGD protein:increased expression:liver 620293 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620293 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction PMID:25741868|PMID:34298581|PMID:8530372|PMID:9915973 620293 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction susceptibility ISO RGD:731823 D RGD:7240710 20230510 OMIM 620293 Ece1 endothelin converting enzyme 1 gene DOID:9002514 Neointima IEP D RGD:7244170|PMID:8575076 20130523 RGD mRNA:increased expression:carotid artery 620293 Ece1 endothelin converting enzyme 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1552140 D RGD:734910|PMID:9649553 20150304 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:9004283 Transplant Rejection IMP D RGD:7244165|PMID:10401760 20130523 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:7244172|PMID:14627492 20130524 RGD associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle 620293 Ece1 endothelin converting enzyme 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7243858|PMID:23600389 20130517 RGD mRNA:increased expression:thoracic aorta 620293 Ece1 endothelin converting enzyme 1 gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:7243946|PMID:18385664 20130521 RGD mRNA,protein:increased expression:kidney medulla 620293 Ece1 endothelin converting enzyme 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 620293 Ece1 endothelin converting enzyme 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:7244160|PMID:12193087 20130523 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:4892580|PMID:18586023 20130521 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9449665 620293 Ece1 endothelin converting enzyme 1 gene DOID:9279 hyperhomocysteinemia IMP D RGD:4892572|PMID:19371338 20130521 RGD 620293 Ece1 endothelin converting enzyme 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:630 genetic disease ISO RGD:732853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:783 end stage renal disease ISO RGD:732853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732853 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9004657 Weight Gain ISO RGD:732853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17194745 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9263 homocystinuria ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 620294 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620295 Snx16 sorting nexin 16 gene DOID:630 genetic disease ISO RGD:733907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620296 Nptn neuroplastin gene DOID:10763 hypertension ISO RGD:733531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 620296 Nptn neuroplastin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 620296 Nptn neuroplastin gene DOID:2717 Bloom syndrome ISO RGD:733531 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620296 Nptn neuroplastin gene DOID:3320 Tay-Sachs disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 620296 Nptn neuroplastin gene DOID:5419 schizophrenia ISO RGD:733531 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620296 Nptn neuroplastin gene DOID:630 genetic disease ISO RGD:733531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620296 Nptn neuroplastin gene DOID:9007102 Myocardial Ischemia ISO RGD:733531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620296 Nptn neuroplastin gene DOID:9008582 Developmental Disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620296 Nptn neuroplastin gene DOID:9256 colorectal cancer ISO RGD:733531 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620297 Psd pleckstrin and Sec7 domain containing gene DOID:630 genetic disease ISO RGD:733797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:increased expression:liver (rat) 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression IEP D RGD:15045604|PMID:23117815 20191218 RGD mRNA:increased expression:liver (rat) 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11099417|PMID:11138003 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia ISO RGD:732219 D RGD:631968|PMID:11452359 20150115 RGD 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17632509|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20466091|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21576934|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27291889|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34505049|PMID:34969652|PMID:9536098 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia susceptibility IAGP D RGD:1598659|PMID:16026620 20070405 RGD DNA:missense mutation: p.G583C , 1757G>T (rat) 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:732219 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:26077881 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:13580 cholestasis IEP D RGD:1598662|PMID:16764892 20061209 RGD 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:1588 thrombocytopenia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:1936 atherosclerosis ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:2213 hemorrhagic disease ISO RGD:732219 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732219 D RGD:1300331|PMID:11099417 20061209 RGD 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3146 lipid metabolism disorder ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3345 xanthomatosis ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3393 coronary artery disease ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11099417|PMID:11138003 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3883 Lynch syndrome ISO RGD:732219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:589 congenital hemolytic anemia ISO RGD:732219 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:630 genetic disease ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9000528 Coronary Disease ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9000528 Coronary Disease ISO RGD:732219 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9000808 Hypercholesterolemia ISO RGD:732219 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:7240710 20191211 OMIM 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28771437|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34355501|PMID:34505049|PMID:34969652|PMID:35557526 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:11893785|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27291889|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:29055934|PMID:29066094|PMID:29353225|PMID:29886606|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34969652 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9003370 Dyslipidemias ISO RGD:732219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9003370 Dyslipidemias ISO RGD:732219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:732219 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:26077881 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:732219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27291889|PMID:28492532|PMID:30270055|PMID:30349881|PMID:32702746 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732219 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:732219 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation PMID:32581362 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1558629|PMID:14618236 20061209 RGD 620298 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 620299 Ereg epiregulin gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:39457687|PMID:30634928 20201006 RGD DNA:SNP:exon 4: (rs2367707) (human) 620299 Ereg epiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:730898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 620299 Ereg epiregulin gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:39457687|PMID:30634928 20201006 RGD DNA:SNP:exon 4: (rs2367707) (human) 620299 Ereg epiregulin gene DOID:399 tuberculosis susceptibility ISO RGD:730898 D RGD:39457686|PMID:22170233 20201006 RGD DNA:SNP:intron: (rs7675690) (human) 620299 Ereg epiregulin gene DOID:630 genetic disease ISO RGD:730898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620299 Ereg epiregulin gene DOID:684 hepatocellular carcinoma ISO RGD:730898 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35776891 620299 Ereg epiregulin gene DOID:869 cholesteatoma ISO RGD:730898 D RGD:39457690|PMID:24256036 20201006 RGD mRNA:increased expression:external acoustic meatus (human) 620299 Ereg epiregulin gene DOID:9000099 Experimental Colitis ISO RGD:730899 D RGD:39457688|PMID:20498653 20201006 RGD protein:increased expression:colonic mucosa (mouse) 620299 Ereg epiregulin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:730898 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620299 Ereg epiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:730898 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15313392 62030 Myh7 myosin heavy chain 7 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10024460|PMID:10725281|PMID:12974739|PMID:16650083|PMID:17125710|PMID:17192269|PMID:17703256|PMID:19150014|PMID:20031618|PMID:21310275|PMID:21674835|PMID:21750094|PMID:22429680|PMID:22765922|PMID:23074333|PMID:23283745|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27247418|PMID:27519903|PMID:27532257|PMID:28492532|PMID:28640247|PMID:28771489|PMID:29300372|PMID:29875424|PMID:30297972|PMID:30847666|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32746448|PMID:32894683|PMID:33087929|PMID:33673806|PMID:34067482|PMID:7731997|PMID:7796500|PMID:8483915|PMID:8541871|PMID:9172070 62030 Myh7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:1580928|PMID:15556047 19990101 RGD DNA:missense mutation:exon:p.R1053Q (human) 62030 Myh7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11499719|PMID:11723028|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14656445|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:15940186|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17095604|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20530761|PMID:2062450|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20952769|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:23870641|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113 62030 Myh7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24558114|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25931334|PMID:25935763|PMID:25937279|PMID:25937619|PMID:25961035|PMID:25979592|PMID:26025024|PMID:26084686|PMID:26150528|PMID:26162782|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26223264|PMID:26246073|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26406308|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26654849|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26899768|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27519903|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27854218|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28005231|PMID:28045975|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28396031|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28449774|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28771251|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29631964|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:29997562|PMID:30022097|PMID:30052928|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30359267|PMID:30371277|PMID:30384889|PMID:30385303|PMID:30403391|PMID:30462978|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30665703|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30972196|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31064352|PMID:31110529|PMID:31112422|PMID:31130284|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31582565|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31735781|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931472|PMID:31931689|PMID:31941943|PMID:31977013|PMID:31980526|PMID:31983221 62030 Myh7 myosin heavy chain 7 gene DOID:0050700 cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32458740|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32731933|PMID:32746448|PMID:32789579|PMID:32830170|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:32969603|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33448881|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34036930|PMID:34135346|PMID:34263907|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34675999|PMID:34819141|PMID:34949102|PMID:35050212|PMID:35063694|PMID:35265679|PMID:35288587|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:7532257|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9476679|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0050821 first-degree atrioventricular block ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: First degree atrioventricular block PMID:21127202|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26150528|PMID:28492532|PMID:28798025|PMID:32880476|PMID:33495597|PMID:34542152 62030 Myh7 myosin heavy chain 7 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:736718 D RGD:155646134|PMID:27249171 20221108 RGD protein:increased expression:heart (human) 62030 Myh7 myosin heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:22958901|PMID:24033266|PMID:24111713|PMID:24793961|PMID:25611685|PMID:25741868|PMID:26076356|PMID:26468400|PMID:27247418|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28790153|PMID:28807990 62030 Myh7 myosin heavy chain 7 gene DOID:0060224 atrial fibrillation ISO RGD:736718 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 62030 Myh7 myosin heavy chain 7 gene DOID:0060224 atrial fibrillation ISO RGD:736718 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:25741868 62030 Myh7 myosin heavy chain 7 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395 62030 Myh7 myosin heavy chain 7 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:0060480 left ventricular noncompaction ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:10900182|PMID:12749056|PMID:15322983|PMID:16199547|PMID:16754800|PMID:17372140|PMID:17947214|PMID:18159245|PMID:18258667|PMID:18506004|PMID:18519860|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20530761|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21127202|PMID:21310275|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21551322|PMID:22464770|PMID:22763267|PMID:22859017|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23861362|PMID:23956225|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24691700|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26332594|PMID:26743238|PMID:27153395|PMID:27532257|PMID:27788187|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28807990|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29300372|PMID:29892087|PMID:29915098|PMID:30371277|PMID:30775854|PMID:31006259|PMID:3203908|PMID:32458740|PMID:7883988|PMID:7909436|PMID:8614836|PMID:8981935|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:7240710 20180912 OMIM 62030 Myh7 myosin heavy chain 7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166 62030 Myh7 myosin heavy chain 7 gene DOID:0070197 distal myopathy 1 ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0080000 muscular disease ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:15358028|PMID:16938236|PMID:19149795|PMID:20975235|PMID:22958901|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25086479|PMID:25611685|PMID:25741868|PMID:25937619|PMID:26187847|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28498465|PMID:31513939|PMID:31589614|PMID:32894683|PMID:34542152 62030 Myh7 myosin heavy chain 7 gene DOID:0080100 congenital myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:24033266|PMID:25741868|PMID:27854218|PMID:28492532|PMID:33500567 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:1472461|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19149795|PMID:19150014|PMID:1944483|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20350521|PMID:20359594|PMID:20800588|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24749114|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26187847|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31493341|PMID:31513939|PMID:31568572|PMID:32381727|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8490051|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:1472461|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19149795|PMID:19150014|PMID:1944483|PMID:19666645|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20800588|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21288719|PMID:21310275|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24749114|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26187847|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29907873|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31931472|PMID:32233023|PMID:32284968|PMID:32381727|PMID:33297573|PMID:33673806|PMID:34540771|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8490051|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28927399|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23896226 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31493341|PMID:31568572|PMID:31638223|PMID:31722741|PMID:31790337|PMID:31918855|PMID:32481709|PMID:32880476|PMID:32894683|PMID:33673806|PMID:34542152|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32481709|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34067482|PMID:34542152|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26573135|PMID:26627873|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34067482|PMID:34542152|PMID:35535697|PMID:7581410|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28087426|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10024460|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630450|PMID:16650083|PMID:16715312|PMID:16858239|PMID:16918501|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17351073|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17703256|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18533079|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808356|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20428263|PMID:20624503|PMID:20664766|PMID:20800588|PMID:20819418|PMID:20865685|PMID:20975235|PMID:21127202|PMID:21211974|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:21425739|PMID:21511876|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21817903|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23508784|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24268868|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25214167|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26246073|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28002430|PMID:28087426|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28255936|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32165824|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33487615|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34542152|PMID:34598319|PMID:34615813|PMID:35535697|PMID:35544052|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28518168|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29661763|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:30022097|PMID:30052928|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30531895|PMID:30588760|PMID:30623132|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31199839|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32481709|PMID:32492895|PMID:32612965|PMID:32627857|PMID:32746448|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34067482|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34949102|PMID:35535697|PMID:35544052|PMID:35653365|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7874131|PMID:7883988|PMID:7994801|PMID:8180512|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:7240710 20130425 OMIM 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19134269|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25327599|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26076356|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:35535697|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29661763|PMID:29709087|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29970176|PMID:30022097|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31199839|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32528171|PMID:32746448|PMID:32880476|PMID:32894683|PMID:33087929|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34540771|PMID:35535697|PMID:4104682|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8186698|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9271024|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24691700|PMID:24704860 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27247418|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29178653|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32612965|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33658040|PMID:33673806|PMID:33764162|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34310159|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:35535697|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30025578|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32894683|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33302605|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33764162|PMID:34008892|PMID:34067482|PMID:34135346|PMID:34310159|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:35535697|PMID:35544052|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23271734|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25326637|PMID:25327599|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26178432|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26246073|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161882|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28005231|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30025578|PMID:30052928|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30615648|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31737537|PMID:31790337|PMID:31918855|PMID:31931472|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32481709|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32746448|PMID:32815737|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34036930 62030 Myh7 myosin heavy chain 7 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic, midventricular, digenic | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:34067482|PMID:34135346|PMID:34310159|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34691145|PMID:34949102|PMID:35063694|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:736718 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:23233322|PMID:24111713|PMID:25741868|PMID:28492532|PMID:34460321 62030 Myh7 myosin heavy chain 7 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:736718 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736718 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532|PMID:30105547 62030 Myh7 myosin heavy chain 7 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:11186938|PMID:11447480|PMID:12951062|PMID:15358028|PMID:15769782|PMID:16858239|PMID:17125710|PMID:17192269|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21302287|PMID:21310275|PMID:21482996|PMID:21750094|PMID:21943931|PMID:22464770|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26025024|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29093449|PMID:29300372|PMID:29773157|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:32880476|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:7240710 20130425 OMIM 62030 Myh7 myosin heavy chain 7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16684601|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18258667|PMID:18374998|PMID:18380764|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25447171|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937279 62030 Myh7 myosin heavy chain 7 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 PMID:25937619|PMID:25961035|PMID:26025024|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26846766|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27884173|PMID:2790153|PMID:27930701|PMID:27965028|PMID:27974200|PMID:28045975|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30578397|PMID:30588760|PMID:30665703|PMID:30674652|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31931472|PMID:31931689|PMID:31983221|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33764162|PMID:33906374|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35050212|PMID:35265679|PMID:35535697|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0111267 hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14659406|PMID:14663035|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15699411|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16684601|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175 62030 Myh7 myosin heavy chain 7 gene DOID:0111267 hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28927399|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:7240710 20150702 OMIM 62030 Myh7 myosin heavy chain 7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27974200|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639 62030 Myh7 myosin heavy chain 7 gene DOID:0111268 autosomal recessive hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:28973424|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34691145|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:12792959|PMID:14520662 20170316 RGD DNA:missense mutation: :p.R1845W (23014C>T) (human) 62030 Myh7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:7240710 20130221 OMIM 62030 Myh7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:10900182|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12379228|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:1430197|PMID:14520662|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17336526|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20086309|PMID:20350521|PMID:20359594|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24758099|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25935763|PMID:25937619|PMID:26220970|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28704380|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29540472|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30165862|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30371277|PMID:30403391|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32880476|PMID:33297573|PMID:33673806|PMID:34008892|PMID:34540771|PMID:34542152|PMID:34598319|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:7883988|PMID:7909436|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9105042|PMID:9140839|PMID:9536098 62030 Myh7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:9826622|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395 62030 Myh7 myosin heavy chain 7 gene DOID:0111269 autosomal dominant hyaline body myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30371277|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32458740|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:0111962 combined immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:10763 hypertension IEP D RGD:9835388|PMID:9686760 20150323 RGD protein:decreased expression:heart left ventricle, arteriole 62030 Myh7 myosin heavy chain 7 gene DOID:10763 hypertension ISO RGD:736718 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 62030 Myh7 myosin heavy chain 7 gene DOID:114 heart disease ISO RGD:736718 D RGD:11554891|PMID:26597775 20221027 RGD mRNA, protein:increased expression:heart (human) 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10725281|PMID:10750581|PMID:10882745|PMID:10900182|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12379228|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:1430197|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16253604|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18555187|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20086309|PMID:20350521|PMID:20359594|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21239446|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21811976|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24953931|PMID:25031304|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25342278|PMID:25351510|PMID:25447691|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25935763|PMID:25937619|PMID:26220970|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28704380|PMID:28750076|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29540472|PMID:29907873|PMID:29915098|PMID:30165862|PMID:30166250|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32528171|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33298082|PMID:33673806|PMID:34008892|PMID:34540771|PMID:34542152|PMID:34598319|PMID:7581410|PMID:7662452|PMID:7731997 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:7786104|PMID:7848420|PMID:7883988|PMID:7909436|PMID:8186698|PMID:8254035|PMID:8268932|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9105042|PMID:9140839|PMID:9536098|PMID:9826622|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12566107|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17097032|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17383184|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24726209|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24953931|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25447691|PMID:25467552|PMID:25524337|PMID:25558701|PMID:25576864|PMID:25611685|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166 62030 Myh7 myosin heavy chain 7 gene DOID:11720 distal myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:27066506|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:2790153|PMID:27930701|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28615295|PMID:28640247|PMID:28687478|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29398688|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:29970176|PMID:30022097|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30403391|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31638223|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32492895|PMID:32528171|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33298082|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34008892|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9058851|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29686627|PMID:29741611 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:1580926|PMID:15856146 19990101 RGD DNA:missense mutations: :multiple 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:1580929|PMID:15358028 19990101 RGD DNA:deletion, missense mutations: :multiple 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10424815|PMID:10521296|PMID:10563488|PMID:10567705|PMID:10606622|PMID:10662815|PMID:10679957|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11106718|PMID:11113006|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11377367|PMID:11424919|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11499719|PMID:11723028|PMID:11733062|PMID:11748309|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12016059|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12379228|PMID:12473556|PMID:12566107|PMID:12590187|PMID:12601548|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12820698|PMID:12881443|PMID:12951062|PMID:12953063|PMID:12974739|PMID:12975413|PMID:1361491|PMID:13732753|PMID:1417858|PMID:1423936|PMID:1430197|PMID:14520662|PMID:14563299|PMID:14656445|PMID:14659406|PMID:1472461|PMID:15000344|PMID:15001446|PMID:15008060|PMID:15010274|PMID:15114369|PMID:15136674|PMID:15184651|PMID:15322983|PMID:15358028|PMID:15386449|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15550524|PMID:15556047|PMID:15563892|PMID:15699387|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15857933|PMID:15858117|PMID:15940186|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:16335287|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16630450|PMID:16650083|PMID:16684601|PMID:16715312|PMID:16754800|PMID:16858239|PMID:16870472|PMID:16918501|PMID:16938236|PMID:16983074|PMID:17019812|PMID:17095604|PMID:17097032|PMID:17118657|PMID:17125710|PMID:17180650|PMID:17192269|PMID:17336526|PMID:17351073|PMID:17372140|PMID:17383184|PMID:1739523|PMID:17438619|PMID:17476457|PMID:17495353|PMID:17502101|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17599605|PMID:17612745|PMID:17643520|PMID:17703256|PMID:17947214|PMID:17987111|PMID:18020371|PMID:18029407|PMID:18076673|PMID:18159245|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18374998|PMID:18380764|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18411228|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18533079|PMID:18555187|PMID:18565996|PMID:18660445|PMID:18761664|PMID:18953637|PMID:19035361|PMID:19134269|PMID:19138847|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19336582|PMID:19412328|PMID:1944483|PMID:19477645|PMID:19586842|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:1975599|PMID:19808347|PMID:19808356|PMID:19843903|PMID:19854198|PMID:19864899|PMID:19880069|PMID:19913502|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20038417|PMID:20075948|PMID:20086309|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20301436|PMID:20309391|PMID:20350521|PMID:20359594|PMID:20376763|PMID:20378854|PMID:20394946|PMID:20428263|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20573160|PMID:2062450|PMID:20624503|PMID:20641121|PMID:20646679|PMID:20664766|PMID:20733148|PMID:20738943|PMID:20800588|PMID:20811150|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20865685|PMID:20952769|PMID:20965760|PMID:20975235|PMID:20981092|PMID:21127202|PMID:21183079|PMID:21185001|PMID:21211974|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21288719|PMID:21302287|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21425739|PMID:21426742|PMID:21482996|PMID:21483645|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21576279|PMID:21642240|PMID:21674835|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21817903|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21943931|PMID:21958740|PMID:21959974|PMID:22037585|PMID:22112859|PMID:22155079|PMID:22177269|PMID:22213221|PMID:22260945|PMID:22267749|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22784669|PMID:22811549|PMID:22857948|PMID:22859017|PMID:22918376|PMID:22949430|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23140321 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23153285|PMID:23197161|PMID:23197398|PMID:23233322|PMID:23271734|PMID:23274168|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23313350|PMID:23318932|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23408646|PMID:23426552|PMID:23478172|PMID:23508784|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23712688|PMID:23751935|PMID:23782526|PMID:23785128|PMID:23794396|PMID:23798412|PMID:23816408|PMID:23861362|PMID:23870641|PMID:23956225|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24215330|PMID:24268868|PMID:24298987|PMID:24344137|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24558114|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24721642|PMID:24749114|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:24963656|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163446|PMID:25163546|PMID:25182012|PMID:25189259|PMID:25214167|PMID:25228707|PMID:25239116|PMID:25326635|PMID:25327599|PMID:25332820|PMID:25342278|PMID:25346696|PMID:25351510|PMID:25422285|PMID:25447171|PMID:25447691|PMID:25448463|PMID:25467552|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25547560|PMID:25558701|PMID:25569433|PMID:25576864|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25931334|PMID:25935763|PMID:25937279|PMID:25937619|PMID:25961035|PMID:25979592|PMID:26025024|PMID:26084686|PMID:26150528|PMID:26162782|PMID:26178432|PMID:26187847|PMID:26199943|PMID:26220970|PMID:26223264|PMID:26246073|PMID:26271555|PMID:26272908|PMID:26332594|PMID:26337809|PMID:26383716|PMID:26406308|PMID:26446785|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26497160|PMID:26573135|PMID:26627873|PMID:26654849|PMID:26656175|PMID:26688388|PMID:26718681|PMID:26743238|PMID:26782017|PMID:26846766|PMID:26899768|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27066506|PMID:27066507|PMID:27082122|PMID:27153395|PMID:27161364|PMID:27161882|PMID:27194543|PMID:27217341|PMID:27224906|PMID:27247418|PMID:27282841|PMID:27318203|PMID:27373729|PMID:27387980|PMID:27460395|PMID:27483260|PMID:27519903|PMID:27527004|PMID:2753225|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27600940|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27788187|PMID:27831900|PMID:27841901|PMID:27854218|PMID:27884173|PMID:27885498|PMID:2790153|PMID:27930701|PMID:27965028|PMID:27974200|PMID:28002430|PMID:28005231|PMID:28045975|PMID:28067235|PMID:28087426|PMID:28125727|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28395747|PMID:28396031|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28449774|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28588093|PMID:28606303|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28642161|PMID:28687478|PMID:28699631|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28759816|PMID:28771489|PMID:28775348|PMID:28777849|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28815794|PMID:28840316|PMID:28855170|PMID:28878402|PMID:28912206|PMID:28927399|PMID:28971120|PMID:28973424|PMID:28986452|PMID:28986455|PMID:29029073|PMID:29030401|PMID:29073106|PMID:29093449|PMID:29095814|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29178653|PMID:29192238|PMID:29212898|PMID:29253866|PMID:29255176|PMID:29300372|PMID:29343710|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29447731|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29540472|PMID:29624713|PMID:29631964|PMID:29661763|PMID:29666183|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29867217|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29915097|PMID:29915098|PMID:29970176 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:29997562|PMID:30022097|PMID:30025578|PMID:30052928|PMID:30095857|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30298955|PMID:30327538|PMID:30359267|PMID:30371277|PMID:30384889|PMID:30385303|PMID:30403391|PMID:30462978|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30578397|PMID:30588760|PMID:30615648|PMID:30623132|PMID:30665703|PMID:30674652|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30745532|PMID:30755392|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30972196|PMID:30984009|PMID:30996762|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31064352|PMID:31110529|PMID:31112422|PMID:31130284|PMID:31130376|PMID:31147515|PMID:31156706|PMID:31195250|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31424582|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31514951|PMID:31517061|PMID:31534214|PMID:31568572|PMID:31582565|PMID:31589614|PMID:31638223|PMID:31722741|PMID:31735781|PMID:31737537|PMID:31771441|PMID:31783775|PMID:31790337|PMID:31918855|PMID:31919335|PMID:31931472|PMID:31931689|PMID:31941943|PMID:31977013|PMID:31980526|PMID:31983221|PMID:31983222|PMID:32013205|PMID:3203908|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32283115|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32403337|PMID:32410215|PMID:32422568|PMID:32458740|PMID:32481709|PMID:32492895|PMID:32516855|PMID:32528171|PMID:32531501|PMID:32607476|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32710294|PMID:32731933|PMID:32746448|PMID:32789579|PMID:32815737|PMID:32830170|PMID:32833721|PMID:32880476|PMID:32894683|PMID:32931854|PMID:32960281|PMID:32968017|PMID:32969603|PMID:33019804|PMID:33087929|PMID:33190526|PMID:33232181|PMID:33297573|PMID:33302605|PMID:33309763|PMID:33382884|PMID:33407484|PMID:33448871|PMID:33448881|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33605878|PMID:33658040|PMID:33673806|PMID:33764162|PMID:33874732|PMID:33906374|PMID:34008892|PMID:34011823|PMID:34036930|PMID:34067482|PMID:34135346|PMID:34213952|PMID:34263907|PMID:34310159|PMID:34426522|PMID:34460321|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34615813|PMID:34621001|PMID:34667957|PMID:34675999|PMID:34691145|PMID:34752814|PMID:34935411|PMID:34949102|PMID:35050212|PMID:35063694|PMID:35265679|PMID:35288587|PMID:35456187|PMID:35535697|PMID:35544052|PMID:35653365|PMID:36129056|PMID:4104682|PMID:7532257|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7648684|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7739336|PMID:7786104|PMID:7788887|PMID:7789380|PMID:7796500|PMID:7815466|PMID:7848420|PMID:7848441|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8250038|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8335820|PMID:8343162|PMID:8375803|PMID:8435239|PMID:8483915|PMID:8490051|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8655135|PMID:8788376|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9047366|PMID:9058851|PMID:9062359|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9271024|PMID:9476679|PMID:9503187|PMID:9536098|PMID:9541100|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9874056|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:736718 D RGD:11065270|PMID:9154300 20170317 RGD DNA:missense mutation: :p.R719W (human) 62030 Myh7 myosin heavy chain 7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:62322 D RGD:155646134|PMID:27249171 20221108 RGD protein:increased expression:heart (human) 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11986409 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27387980|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31568572|PMID:3203908|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:27387980|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29907873|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32013205|PMID:3203908|PMID:32283115|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28855170|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29907873|PMID:30122538|PMID:30775854|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31638223|PMID:31931689|PMID:32013205|PMID:3203908|PMID:32283115|PMID:32458740|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34935411|PMID:35288587|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10662815|PMID:10900182|PMID:11106718|PMID:11133230|PMID:12084606|PMID:12379228|PMID:12707239|PMID:12881443|PMID:12951062|PMID:12974739|PMID:12975413|PMID:15001446|PMID:15322983|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16715312|PMID:16754800|PMID:16983074|PMID:17192269|PMID:17351073|PMID:17372140|PMID:1739523|PMID:17495353|PMID:17576681|PMID:17599605|PMID:17947214|PMID:18175163|PMID:18258667|PMID:18365899|PMID:18414213|PMID:18506004|PMID:18519860|PMID:18555187|PMID:18660445|PMID:19293840|PMID:19412328|PMID:19477645|PMID:1975599|PMID:19808347|PMID:19854198|PMID:19864899|PMID:20031602|PMID:20031619|PMID:20428263|PMID:20474083|PMID:20530761|PMID:20573160|PMID:20624503|PMID:20733148|PMID:20800588|PMID:20965760|PMID:21211974|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21482996|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21750094|PMID:21839045|PMID:21943931|PMID:22155079|PMID:22260945|PMID:22337857|PMID:22464770|PMID:22763267|PMID:22918376|PMID:22949430|PMID:22958901|PMID:23054336|PMID:23153285|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23299917|PMID:23313350|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23707328|PMID:23798412|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24344137|PMID:24503780|PMID:24664454|PMID:24691700|PMID:24721642|PMID:24758099|PMID:24829265|PMID:25031304|PMID:25125180|PMID:25163446|PMID:25163546|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25576864|PMID:25607779|PMID:25637381|PMID:25649125|PMID:25666907|PMID:25741868|PMID:25937279|PMID:25961035|PMID:26025024|PMID:26220970|PMID:26332594|PMID:26383716|PMID:26467025|PMID:26497160|PMID:26688388|PMID:26743238|PMID:27153395|PMID:27247418|PMID:27373729|PMID:2753225|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27688314|PMID:28045975|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28588093|PMID:28750076|PMID:28771251|PMID:28790153|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29093449|PMID:29212898|PMID:29253866|PMID:29300372|PMID:29447731|PMID:29666183|PMID:29709087|PMID:29773157|PMID:29867217|PMID:29892087|PMID:29907873|PMID:29915098|PMID:30095857|PMID:30122538|PMID:30188508|PMID:30298955|PMID:30371277|PMID:30775854|PMID:30794915|PMID:30847666|PMID:30996762|PMID:31006259|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31638223|PMID:31737537|PMID:31783775|PMID:31931689|PMID:31983221|PMID:32013205|PMID:3203908|PMID:32228044|PMID:32283115|PMID:32458740|PMID:32528171|PMID:32659924|PMID:32789579|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34213952|PMID:34460321|PMID:34542152|PMID:34935411|PMID:35288587|PMID:7731997|PMID:7883988|PMID:7909436|PMID:8250038|PMID:8335820|PMID:8614836|PMID:8655135|PMID:8981935|PMID:9536098|PMID:9541100|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:12930 dilated cardiomyopathy onset ISO RGD:736718 D RGD:1556469|PMID:11106718 19990101 RGD DNA:missense mutations:exon:p.S532P, p.F764L (human) 62030 Myh7 myosin heavy chain 7 gene DOID:14289 Ebstein anomaly ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:21127202|PMID:23956225|PMID:24033266|PMID:27153395|PMID:28492532|PMID:29300372 62030 Myh7 myosin heavy chain 7 gene DOID:1459 hypothyroidism IEP D RGD:12792943|PMID:2950137 20170316 RGD 62030 Myh7 myosin heavy chain 7 gene DOID:1459 hypothyroidism IEP D RGD:12798563|PMID:1703406 20170327 RGD 62030 Myh7 myosin heavy chain 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10862102|PMID:12975413|PMID:19149795|PMID:20075948|PMID:20298698|PMID:20975235|PMID:22112859|PMID:23299917|PMID:24033266|PMID:24621997|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28771489|PMID:29300372|PMID:29907873|PMID:30022097|PMID:30206291|PMID:30217213|PMID:32165824|PMID:32492895 62030 Myh7 myosin heavy chain 7 gene DOID:1682 congenital heart disease ISO RGD:736718 D RGD:11098258|PMID:18159245 20170316 RGD DNA:missense mutation:exon:p.R281T (c.842G>C) (human) 62030 Myh7 myosin heavy chain 7 gene DOID:1882 atrial heart septal defect ISO RGD:736718 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Atrial septal defect 62030 Myh7 myosin heavy chain 7 gene DOID:2340 craniosynostosis ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lambdoid synostosis PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 62030 Myh7 myosin heavy chain 7 gene DOID:2843 long QT syndrome ISO RGD:736718 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:27532257|PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:2843 long QT syndrome ISO RGD:736718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10521296|PMID:11186938|PMID:11447480|PMID:12749056|PMID:15358028|PMID:15757018|PMID:16267253|PMID:16858239|PMID:17125710|PMID:18029407|PMID:18409188|PMID:18506004|PMID:19150014|PMID:19880069|PMID:20031618|PMID:20624503|PMID:20965760|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21551322|PMID:21799269|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23074333|PMID:23140321|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23794396|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24714796|PMID:24793961|PMID:25031304|PMID:25214167|PMID:25342278|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26497160|PMID:26743238|PMID:26969327|PMID:27066506|PMID:27247418|PMID:27387980|PMID:27532257|PMID:27737317|PMID:27788187|PMID:27831900|PMID:28138913|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:28912206|PMID:29121657|PMID:29300372|PMID:29447731|PMID:30291343|PMID:30755392|PMID:30871747|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:397 restrictive cardiomyopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11861413|PMID:12707239|PMID:15358028|PMID:15483641|PMID:15769782|PMID:17125710|PMID:17336526|PMID:18076673|PMID:18380764|PMID:18409188|PMID:19150014|PMID:20394946|PMID:20800588|PMID:20818890|PMID:20981092|PMID:21302287|PMID:21310275|PMID:21425739|PMID:22260945|PMID:22763267|PMID:22765922|PMID:22958901|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23690394|PMID:23861362|PMID:23870641|PMID:24033266|PMID:25125180|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25741868|PMID:25935763|PMID:26084686|PMID:26467025|PMID:26654849|PMID:26846766|PMID:26914223|PMID:27224906|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27884173|PMID:27965028|PMID:28067235|PMID:28356264|PMID:28492532|PMID:28606303|PMID:28855170|PMID:29178653|PMID:29300372|PMID:29631964|PMID:30105547|PMID:30745532|PMID:32013205|PMID:33495597|PMID:34542152 62030 Myh7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10024460|PMID:10065021|PMID:10328076|PMID:10521296|PMID:10725281|PMID:10750581|PMID:10882745|PMID:11133230|PMID:11186938|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11968089|PMID:12081993|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12975413|PMID:1430197|PMID:15010274|PMID:15136674|PMID:15358028|PMID:15483641|PMID:15528230|PMID:1552912|PMID:15563892|PMID:15757018|PMID:15856146|PMID:15858117|PMID:16199542|PMID:16267253|PMID:1638703|PMID:16630449|PMID:16858239|PMID:16918501|PMID:17125710|PMID:17438619|PMID:17560888|PMID:17612745|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19150014|PMID:1944483|PMID:19666645|PMID:1975517|PMID:19880069|PMID:20031618|PMID:20350521|PMID:20800588|PMID:21127202|PMID:21239446|PMID:21310275|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22429680|PMID:22455086|PMID:22765922|PMID:22857948|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23197161|PMID:23233322|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23396983|PMID:23403236|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24093860|PMID:24111713|PMID:24183960|PMID:24298987|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24704860|PMID:24793961|PMID:25031304|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25741868|PMID:25937619|PMID:26573135|PMID:26743238|PMID:26914223|PMID:26936621|PMID:26969327|PMID:27082122|PMID:27153395|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29212898|PMID:29300372|PMID:29907873|PMID:30217213|PMID:30291343|PMID:30297972|PMID:30511546|PMID:30731207|PMID:30755392|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31931472|PMID:32233023|PMID:32284968|PMID:32381727|PMID:33297573|PMID:33673806|PMID:34540771|PMID:7581410|PMID:7662452|PMID:7731997|PMID:7848420|PMID:8186698|PMID:8254035|PMID:8268932|PMID:9105042|PMID:9140839|PMID:9826622|PMID:9835779 62030 Myh7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10024460|PMID:10065021|PMID:10086390|PMID:10328076|PMID:10521296|PMID:10563488|PMID:10606622|PMID:10725281|PMID:10750581|PMID:10764406|PMID:10862102|PMID:10874840|PMID:10882745|PMID:10900182|PMID:10957787|PMID:11133230|PMID:11186938|PMID:11196015|PMID:11227787|PMID:11433818|PMID:11447480|PMID:11498078|PMID:11723028|PMID:11861410|PMID:11861413|PMID:11904418|PMID:11968089|PMID:12081993|PMID:12084606|PMID:12117842|PMID:12601548|PMID:12707239|PMID:12818575|PMID:12820698|PMID:12974739|PMID:12975413|PMID:13732753|PMID:1423936|PMID:1430197|PMID:14563299|PMID:14659406|PMID:15000344|PMID:15010274|PMID:15136674|PMID:15322983|PMID:15358028|PMID:15483641|PMID:15519027|PMID:15528230|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15757018|PMID:15769782|PMID:15856146|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199542|PMID:16199547|PMID:16253604|PMID:16267253|PMID:1634614|PMID:16352453|PMID:1638703|PMID:16504640|PMID:16630449|PMID:16754800|PMID:16858239|PMID:16918501|PMID:16938236|PMID:17125710|PMID:17180650|PMID:17351073|PMID:17372140|PMID:17438619|PMID:17476457|PMID:17548557|PMID:17560888|PMID:17576681|PMID:17612745|PMID:17947214|PMID:17987111|PMID:18029407|PMID:18374998|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18565996|PMID:18660445|PMID:18761664|PMID:19149795|PMID:19150014|PMID:19293840|PMID:19412328|PMID:1944483|PMID:19645038|PMID:19651039|PMID:19659763|PMID:19666645|PMID:1975517|PMID:19808347|PMID:19808356|PMID:19854198|PMID:19864899|PMID:19880069|PMID:20031602|PMID:20031618|PMID:20075948|PMID:20173211|PMID:20215591|PMID:20298698|PMID:20350521|PMID:20359594|PMID:20378854|PMID:20530761|PMID:20624503|PMID:20646679|PMID:20733148|PMID:20800588|PMID:20817590|PMID:20818890|PMID:20819418|PMID:20975235|PMID:21127202|PMID:21216834|PMID:21239280|PMID:21239446|PMID:21252143|PMID:21310275|PMID:2136805|PMID:21424860|PMID:21426742|PMID:21499742|PMID:21511876|PMID:21750094|PMID:21769673|PMID:21799269|PMID:21811976|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21959974|PMID:22112859|PMID:22155079|PMID:22213221|PMID:22337857|PMID:22429680|PMID:22455086|PMID:2249844|PMID:22555271|PMID:22735528|PMID:22763267|PMID:22765922|PMID:22811549|PMID:22857948|PMID:22918376|PMID:22958901|PMID:22975586|PMID:23054336|PMID:23074333|PMID:23153285|PMID:23197161|PMID:23233322|PMID:23281406|PMID:23283745|PMID:23290139|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23403236|PMID:23426552|PMID:23549607|PMID:23580644|PMID:23674513|PMID:23690394|PMID:23707328|PMID:23711808|PMID:23751935|PMID:23785128|PMID:23794396|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24038877|PMID:24047955|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24183960|PMID:24268868|PMID:24298987|PMID:24498601|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24664454|PMID:24691700|PMID:24704860|PMID:24714796|PMID:24758099|PMID:24793961|PMID:24829265|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24928957|PMID:25031304|PMID:25078086|PMID:25086479|PMID:25125180|PMID:25132132|PMID:25163546|PMID:25214167|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25467552|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25666907|PMID:25714468|PMID:25741868|PMID:25892673|PMID:25935763|PMID:25937619|PMID:25961035|PMID:26187847|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26573135|PMID:26627873|PMID:26656175|PMID:26718681|PMID:26743238|PMID:26912705|PMID:26914223|PMID:26936621|PMID:26969127|PMID:26969327|PMID:27000522|PMID:27054166|PMID:27082122|PMID:27153395|PMID:27194543|PMID:27224906|PMID:27247418|PMID:27387980|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27974200|PMID:28138913|PMID:28152038|PMID:28193612|PMID:28202948|PMID:28241245|PMID:28246639|PMID:28255936|PMID:28265379|PMID:28296734|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28481356|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28566242|PMID:28606303 62030 Myh7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:422 congenital structural myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:28615295|PMID:28640247|PMID:28687478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28912206|PMID:28971120|PMID:29029073|PMID:29101517|PMID:29121657|PMID:29169752|PMID:29170849|PMID:29192238|PMID:29212898|PMID:29300372|PMID:29343710|PMID:29447731|PMID:29517769|PMID:29661763|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29773157|PMID:29875424|PMID:29907873|PMID:29915098|PMID:30022097|PMID:30122538|PMID:30166250|PMID:30188508|PMID:30206291|PMID:30217213|PMID:30275503|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30471092|PMID:30511546|PMID:30531895|PMID:30588760|PMID:30696458|PMID:30731207|PMID:30755392|PMID:30775854|PMID:30847666|PMID:30868567|PMID:30871747|PMID:30924982|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31112422|PMID:31130376|PMID:31156706|PMID:31199839|PMID:31213605|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31447099|PMID:31493341|PMID:31513939|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931472|PMID:31931689|PMID:3203908|PMID:32228044|PMID:32233023|PMID:32284968|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32381727|PMID:32492895|PMID:32531501|PMID:32612965|PMID:32627857|PMID:32659924|PMID:32880476|PMID:32894683|PMID:32931854|PMID:33232181|PMID:33297573|PMID:33382884|PMID:33487615|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33906374|PMID:34426522|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34949102|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7546620|PMID:7581410|PMID:7612980|PMID:7662452|PMID:7713108|PMID:7731997|PMID:7788887|PMID:7789380|PMID:7815466|PMID:7848420|PMID:7874131|PMID:7883988|PMID:7909436|PMID:7994801|PMID:8180512|PMID:8186698|PMID:8194835|PMID:8196066|PMID:8254035|PMID:8268932|PMID:8281650|PMID:8282798|PMID:8375803|PMID:8483915|PMID:8514894|PMID:8533830|PMID:8541871|PMID:8614836|PMID:8898372|PMID:8981935|PMID:9001794|PMID:9105042|PMID:9140824|PMID:9140839|PMID:9154300|PMID:9172070|PMID:9202846|PMID:9503187|PMID:9536098|PMID:9541509|PMID:9544842|PMID:9742053|PMID:9822100|PMID:9826622|PMID:9829907|PMID:9835779|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:423 myopathy ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15358028|PMID:16938236|PMID:19149795|PMID:20975235|PMID:22958901|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25086479|PMID:25611685|PMID:25741868|PMID:25937619|PMID:26187847|PMID:27247418|PMID:27532257|PMID:28492532|PMID:28498465|PMID:31513939|PMID:31589614|PMID:32894683|PMID:34542152 62030 Myh7 myosin heavy chain 7 gene DOID:4248 coronary stenosis ISO RGD:736718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 62030 Myh7 myosin heavy chain 7 gene DOID:440 neuromuscular disease ISO RGD:736718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:19477645|PMID:22918376|PMID:24033266|PMID:24503780|PMID:24664454|PMID:25576864|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28855170|PMID:29300372 62030 Myh7 myosin heavy chain 7 gene DOID:5810 adenosine deaminase deficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:5844 myocardial infarction IEP D RGD:11565830|PMID:15090263 20170317 RGD 62030 Myh7 myosin heavy chain 7 gene DOID:5844 myocardial infarction ISO RGD:736718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11743230 62030 Myh7 myosin heavy chain 7 gene DOID:6000 congestive heart failure treatment IEP D RGD:12792974|PMID:18088389 20170317 RGD associated with Myocardial Infarction 62030 Myh7 myosin heavy chain 7 gene DOID:614 lymphopenia ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:627 severe combined immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:10521296|PMID:11186938|PMID:11447480|PMID:15358028|PMID:16858239|PMID:17125710|PMID:18029407|PMID:19880069|PMID:20031618|PMID:21310275|PMID:22857948|PMID:22975586|PMID:23233322|PMID:23283745|PMID:23299917|PMID:24033266|PMID:24038877|PMID:24093860|PMID:24111713|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26743238|PMID:26969327|PMID:27247418|PMID:27532257|PMID:27737317|PMID:27831900|PMID:28138913|PMID:28420666|PMID:28492532|PMID:28606303|PMID:28615295|PMID:28790153|PMID:30291343|PMID:30755392|PMID:31006259|PMID:31110529|PMID:31447099|PMID:31589614|PMID:32233023|PMID:33297573|PMID:33673806|PMID:7581410 62030 Myh7 myosin heavy chain 7 gene DOID:630 genetic disease ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10900182|PMID:11433818|PMID:12820698|PMID:12974739|PMID:14656445|PMID:15322983|PMID:15358028|PMID:15563892|PMID:16754800|PMID:17372140|PMID:17502101|PMID:17947214|PMID:18383048|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20624503|PMID:20733148|PMID:20800588|PMID:21252143|PMID:2136805|PMID:21499742|PMID:21511876|PMID:21839045|PMID:22455086|PMID:22763267|PMID:22765922|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:25086479|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26246073|PMID:26332594|PMID:26743238|PMID:26914223|PMID:27532257|PMID:28193612|PMID:28265379|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28807990|PMID:28971120|PMID:29300372|PMID:29915098|PMID:30588760|PMID:30775854|PMID:31006259|PMID:3203908|PMID:32344918|PMID:32894683|PMID:33309763|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35653365|PMID:7883988|PMID:7909436|PMID:8533830|PMID:8614836|PMID:8981935|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:9000184 Ventricular Fibrillation ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:15483641|PMID:20624503|PMID:21310275|PMID:22958901|PMID:23054336|PMID:23197161|PMID:23299917|PMID:23403236|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24047955|PMID:24510615|PMID:25637381|PMID:25741868|PMID:26573135|PMID:27153395|PMID:27247418|PMID:27574918|PMID:28492532|PMID:29300372 62030 Myh7 myosin heavy chain 7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:10024460|PMID:12379228|PMID:12707239|PMID:12749056|PMID:12818575|PMID:12974739|PMID:1430197|PMID:15358028|PMID:1552912|PMID:15556047|PMID:15563892|PMID:15769782|PMID:15858117|PMID:16115294|PMID:16137545|PMID:16199547|PMID:16253604|PMID:16630449|PMID:17125710|PMID:17476457|PMID:17576681|PMID:18383048|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18506004|PMID:18533079|PMID:18953637|PMID:19149795|PMID:19150014|PMID:19412328|PMID:19477645|PMID:19645038|PMID:19864899|PMID:20086309|PMID:20359594|PMID:20474083|PMID:20664766|PMID:20975235|PMID:21127202|PMID:21551322|PMID:21750094|PMID:21959974|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22763267|PMID:22859017|PMID:22918376|PMID:22958901|PMID:23233322|PMID:23299917|PMID:23403236|PMID:23508784|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24664454|PMID:24721642|PMID:24758099|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25576864|PMID:25607779|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26458567|PMID:26467025|PMID:26468400|PMID:26743238|PMID:27082122|PMID:27247418|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27788187|PMID:27930701|PMID:28255936|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28606303|PMID:28704380|PMID:28706299|PMID:28750076|PMID:28790153|PMID:28807990|PMID:28855170|PMID:28878402|PMID:29300372|PMID:30165862|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32528171|PMID:32880476|PMID:32894683|PMID:33495597|PMID:33500567|PMID:34008892|PMID:34426522|PMID:34540771|PMID:34542152|PMID:35653365|PMID:7731997|PMID:8533830|PMID:9536098 62030 Myh7 myosin heavy chain 7 gene DOID:9000590 Dyspnea ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:18258667|PMID:24033266|PMID:24111713|PMID:25741868|PMID:26914223|PMID:27930701|PMID:28492532|PMID:28771489|PMID:31737537 62030 Myh7 myosin heavy chain 7 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:736718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:19477645|PMID:22918376|PMID:24033266|PMID:24503780|PMID:24664454|PMID:25576864|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28855170|PMID:29300372 62030 Myh7 myosin heavy chain 7 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:16199547|PMID:25741868|PMID:28492532|PMID:29343803 62030 Myh7 myosin heavy chain 7 gene DOID:9003163 Heart Block ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:16199547|PMID:25741868|PMID:28492532|PMID:29343803 62030 Myh7 myosin heavy chain 7 gene DOID:9003936 Cardiomegaly IEP D RGD:12798563|PMID:1703406 20170327 RGD 62030 Myh7 myosin heavy chain 7 gene DOID:9003936 Cardiomegaly ISO RGD:62322 D RGD:11554891|PMID:26597775 20221027 RGD mRNA, protein:increased expression:heart (mouse) 62030 Myh7 myosin heavy chain 7 gene DOID:9004470 Craniosynostosis 4 ISO RGD:736718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 62030 Myh7 myosin heavy chain 7 gene DOID:9004493 Camptocormia ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:12707239|PMID:23861362|PMID:24033266|PMID:24793961|PMID:25467552|PMID:25741868|PMID:25961035|PMID:26627873|PMID:26969127|PMID:27247418|PMID:27532257|PMID:28492532|PMID:29300372|PMID:31918855|PMID:32894683|PMID:33673806|PMID:34542152 62030 Myh7 myosin heavy chain 7 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:12792943|PMID:2950137 20170316 RGD mRNA, protein:increased expression:heart left ventricle 62030 Myh7 myosin heavy chain 7 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736718 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:10900182|PMID:15322983|PMID:16754800|PMID:17372140|PMID:17947214|PMID:19808347|PMID:19864899|PMID:20031602|PMID:20624503|PMID:20733148|PMID:20800588|PMID:2136805|PMID:21499742|PMID:21511876|PMID:22763267|PMID:22918376|PMID:22958901|PMID:23281406|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23426552|PMID:23707328|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24119082|PMID:24503780|PMID:25125180|PMID:25163546|PMID:25351510|PMID:25524337|PMID:25666907|PMID:25741868|PMID:26332594|PMID:26743238|PMID:28193612|PMID:28265379|PMID:28416588|PMID:28492532|PMID:28807990|PMID:28971120|PMID:29300372|PMID:29915098|PMID:30775854|PMID:31006259|PMID:3203908|PMID:7883988|PMID:7909436|PMID:8614836|PMID:8981935|PMID:9884344 62030 Myh7 myosin heavy chain 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 62030 Myh7 myosin heavy chain 7 gene DOID:9005141 Ventricular Tachycardia ISO RGD:736718 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 62030 Myh7 myosin heavy chain 7 gene DOID:9005930 Endotoxemia IEP D RGD:12792976|PMID:7874842 20170317 RGD 62030 Myh7 myosin heavy chain 7 gene DOID:9007820 Sudden Death ISO RGD:736718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15358028|PMID:15856146|PMID:16335287|PMID:19808356|PMID:19913502|PMID:20800588|PMID:22857948|PMID:23074333|PMID:23283745|PMID:23396983|PMID:23782526|PMID:23861362|PMID:24047955|PMID:25351510|PMID:25741868|PMID:26688388|PMID:27247418|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28687478|PMID:29300372|PMID:30165862|PMID:31199839 62030 Myh7 myosin heavy chain 7 gene DOID:9007925 Sudden Cardiac Death ISO RGD:736718 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 62030 Myh7 myosin heavy chain 7 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:736718 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:18414213|PMID:20474083|PMID:23233322|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300372 62030 Myh7 myosin heavy chain 7 gene DOID:9775 diastolic heart failure ISO RGD:736718 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 62030 Myh7 myosin heavy chain 7 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736718 D RGD:12798513|PMID:27789736 20170322 RGD 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:increased expression:liver (rat) 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression IEP D RGD:15045604|PMID:23117815 20191218 RGD mRNA:decreased expression:liver (rat) 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11099417 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:1300331|PMID:11099417 19990101 RGD 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:631968|PMID:11452359 19990101 RGD 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23241408|PMID:23685560|PMID:24033266|PMID:24657386|PMID:25073796|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29590070|PMID:30545335|PMID:32041611|PMID:32088153|PMID:32166861|PMID:33228147|PMID:33269076|PMID:34650182|PMID:3706300|PMID:4360855|PMID:6110091 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:732770 D RGD:1601097|PMID:12671028 20070405 RGD sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:13580 cholestasis IEP D RGD:1598662|PMID:16764892 20061209 RGD 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:1588 thrombocytopenia ISO RGD:732770 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:2213 hemorrhagic disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732770 D RGD:1300331|PMID:11099417 20061209 RGD 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:3393 coronary artery disease ISO RGD:732770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11099417 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:3883 Lynch syndrome ISO RGD:732770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:589 congenital hemolytic anemia ISO RGD:732770 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:630 genetic disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9000528 Coronary Disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9000808 Hypercholesterolemia ISO RGD:732770 D RGD:1601094|PMID:15816807 20070405 RGD DNA:polymorphism: :p.M429V 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732770 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:7240710 20191127 OMIM 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15816807|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17576681|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:22981120|PMID:23241408|PMID:23685560|PMID:24166850|PMID:24497850|PMID:24657386|PMID:25073796|PMID:25110228|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29169939|PMID:29590070|PMID:29886606|PMID:30007774|PMID:30241732|PMID:30333156|PMID:30545335|PMID:30968598|PMID:31064749|PMID:31327807|PMID:32041611|PMID:32088153|PMID:32166861|PMID:33228147|PMID:33269076|PMID:34650182|PMID:35549507|PMID:3706300|PMID:4360855|PMID:6110091|PMID:9536098 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:7240710 20130425 OMIM 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11099417|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23685560|PMID:24497850|PMID:24657386|PMID:25741868|PMID:28492532|PMID:28521186|PMID:29590070|PMID:30241732|PMID:32041611|PMID:32088153|PMID:33228147|PMID:33269076|PMID:34650182|PMID:4360855 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1558629|PMID:14618236 20061209 RGD 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9006113 Gallstones ISO RGD:732770 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632509 620300 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9970 obesity ISO RGD:732770 D RGD:1601095|PMID:15331430 20070405 RGD 620301 Avil advillin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:731808 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 620301 Avil advillin gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:731808 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:25741868 620301 Avil advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:7240710 20191030 OMIM 620301 Avil advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 620301 Avil advillin gene DOID:630 genetic disease ISO RGD:731808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620302 Slc22a23 solute carrier family 22, member 23 gene DOID:630 genetic disease ISO RGD:1347503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620302 Slc22a23 solute carrier family 22, member 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620304 Kcnh6 potassium voltage-gated channel subfamily H member 6 gene DOID:4194 glucose metabolism disease ISS RGD:1332067 D RGD:13592920 20200416 MouseDO 620304 Kcnh6 potassium voltage-gated channel subfamily H member 6 gene DOID:630 genetic disease ISO RGD:737542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620305 Hip1 huntingtin interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736003 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620305 Hip1 huntingtin interacting protein 1 gene DOID:630 genetic disease ISO RGD:736003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620305 Hip1 huntingtin interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736003 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620305 Hip1 huntingtin interacting protein 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736003 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 620306 Hbg1 hemoglobin subunit gamma 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345458 D RGD:7240710 20150729 OMIM 620306 Hbg1 hemoglobin subunit gamma 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 | ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Sardinian HPFH | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:1373683|PMID:1374633|PMID:1379347|PMID:1487421|PMID:1698280|PMID:1704803|PMID:1990287|PMID:2224140|PMID:2276623|PMID:24033266|PMID:2412617|PMID:2412945|PMID:2417646|PMID:2423160|PMID:2430647|PMID:2441598|PMID:2451123|PMID:2452784|PMID:2469505|PMID:2798417|PMID:28669403|PMID:291015|PMID:3033668|PMID:3181130|PMID:3377986|PMID:3401591|PMID:6019034|PMID:6038320|PMID:6160889|PMID:6186637|PMID:6188719|PMID:808940|PMID:811241|PMID:8718701|PMID:939551|PMID:9703422 620306 Hbg1 hemoglobin subunit gamma 1 gene DOID:14330 Parkinson's disease ISO RGD:1345458 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 620306 Hbg1 hemoglobin subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1345458 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620306 Hbg1 hemoglobin subunit gamma 1 gene DOID:9001341 Chloracne ISO RGD:1345458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 620306 Hbg1 hemoglobin subunit gamma 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:10283 prostate cancer treatment ISO RGD:732664 D RGD:11534031|PMID:26294745 20180214 RGD 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:1826 epilepsy ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732665 D RGD:13506808|PMID:17562488 20180219 RGD 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732664 D RGD:13503320|PMID:25064732 20180110 RGD mRNA:increased expression:blood serum 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:6000 congestive heart failure ISO RGD:732664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19429709 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:630 genetic disease ISO RGD:732664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732664 D RGD:13503320|PMID:25064732 20180110 RGD associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum 620307 Pdpk1 3-phosphoinositide dependent protein kinase-1 gene DOID:9008939 Breast Neoplasms ISO RGD:732664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24739482 620308 Sstr3 somatostatin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 620308 Sstr3 somatostatin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343520 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620308 Sstr3 somatostatin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620308 Sstr3 somatostatin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 620308 Sstr3 somatostatin receptor 3 gene DOID:169 neuroendocrine tumor ISO RGD:1343520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 620308 Sstr3 somatostatin receptor 3 gene DOID:1793 pancreatic cancer ISO RGD:1343520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 620308 Sstr3 somatostatin receptor 3 gene DOID:1824 status epilepticus ISO RGD:1343520 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 620308 Sstr3 somatostatin receptor 3 gene DOID:630 genetic disease ISO RGD:1343520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620308 Sstr3 somatostatin receptor 3 gene DOID:9000998 Brain Injuries IEP D RGD:2325002|PMID:11879809 20100518 RGD 620308 Sstr3 somatostatin receptor 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2325008|PMID:7956902 20100518 RGD 620309 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349457 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620309 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:11476 osteoporosis ISO RGD:1349457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 620309 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349457 D RGD:2326238|PMID:19188911 20100701 RGD mRNA, protein:increased expression:pancreas 620309 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1349457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620309 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349457 D RGD:2326238|PMID:19188911 20100701 RGD associated with Pancreatic Neoplasms; mRNA, protein:increased expression:pancreas 620309 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349457 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 62031 Coil coilin gene DOID:0050777 Joubert syndrome ISO RGD:735624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 62031 Coil coilin gene DOID:630 genetic disease ISO RGD:735624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620310 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:12930 dilated cardiomyopathy ISS RGD:733379 D RGD:13592920 20180518 MouseDO 620310 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:630 genetic disease ISO RGD:733378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620310 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733378 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:732683 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732683 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:732683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:10652 Alzheimer's disease ISO RGD:732683 D RGD:14349051|PMID:11597610 20190211 RGD protein:increased expression:superior, middle temporal gyrus; 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:732683 D RGD:2325696|PMID:19077459 20190211 RGD protein:increased expression:pancreas 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:630 genetic disease ISO RGD:732683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620311 Akr7a2 aldo-keto reductase family 7, member A2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 620312 Ppib peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:7240710 20130221 OMIM 620312 Ppib peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:20089953|PMID:20484404|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532|PMID:29620724 620312 Ppib peptidylprolyl isomerase B gene DOID:0110935 nemaline myopathy 6 ISO RGD:732990 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 620312 Ppib peptidylprolyl isomerase B gene DOID:12347 osteogenesis imperfecta ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532 620312 Ppib peptidylprolyl isomerase B gene DOID:2717 Bloom syndrome ISO RGD:732990 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620312 Ppib peptidylprolyl isomerase B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 620312 Ppib peptidylprolyl isomerase B gene DOID:630 genetic disease ISO RGD:732990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620312 Ppib peptidylprolyl isomerase B gene DOID:9256 colorectal cancer ISO RGD:732990 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:11159936|PMID:12093772|PMID:12459180|PMID:16769042|PMID:18326664|PMID:19709828|PMID:19926015|PMID:21315846|PMID:22677073|PMID:22787013|PMID:23757202|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24447446|PMID:24558114|PMID:24981977|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26112015|PMID:26189708|PMID:27646203|PMID:27650965|PMID:28087566|PMID:28150229|PMID:28404607|PMID:28492532|PMID:28771489|PMID:29477366|PMID:29874177|PMID:31112425|PMID:31337358|PMID:31931689|PMID:32233023 620314 Ryr2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1317019 D RGD:1599243|PMID:11159936 20070122 RGD 620314 Ryr2 ryanodine receptor 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317019 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Brugada syndrome 620314 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23651034|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29915097|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31535183|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32899693|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:34088380|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 620314 Ryr2 ryanodine receptor 2 gene DOID:0060319 cardiac arrest ISO RGD:1317019 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Cardiac arrest 620314 Ryr2 ryanodine receptor 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:18752142|PMID:19926015|PMID:23022705|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25741868|PMID:27538377|PMID:28404607|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20080988|PMID:20513597 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:20961976|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30403697|PMID:30453078|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:34088380|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35470680|PMID:35819174|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21270786|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:25974703|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33789662|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:7240710 20130221 OMIM 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23098067|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32899693|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33686871|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:1992601|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:22956155|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166811|PMID:28191890|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28771489|PMID:28789916|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29568272|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30355031|PMID:30403697|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31112425|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33919104|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526 620314 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:8589694|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 620314 Ryr2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19216760|PMID:19926015|PMID:20132818|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32152366 620314 Ryr2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27756708|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366|PMID:30847666|PMID:32152366 620314 Ryr2 ryanodine receptor 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25637381|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 620314 Ryr2 ryanodine receptor 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1317019 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 620314 Ryr2 ryanodine receptor 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366 620314 Ryr2 ryanodine receptor 2 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1317019 D RGD:8554872 20180522 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 620314 Ryr2 ryanodine receptor 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317019 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317019 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:26132555|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317019 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:114 heart disease ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart disease PMID:17576681|PMID:25741868|PMID:28404607|PMID:28492532|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:114 heart disease ISS RGD:1557868 D RGD:13592920 20210422 MouseDO 620314 Ryr2 ryanodine receptor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12459180|PMID:18752142|PMID:19926015|PMID:22787013|PMID:23022705|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25041964|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27538377|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29453246|PMID:29477366|PMID:31155924|PMID:31513939|PMID:32508047 620314 Ryr2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:19926015|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29453246|PMID:31333075|PMID:31568572|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366 620314 Ryr2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366|PMID:32746448|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317019 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:1682 congenital heart disease ISO RGD:1317019 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:1790 malignant mesothelioma ISO RGD:1317019 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 620314 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:31112425 620314 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29543670|PMID:31112425|PMID:32152366 620314 Ryr2 ryanodine receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:24033266|PMID:24558114|PMID:25041964|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26383259|PMID:28150229|PMID:28404607|PMID:28492532|PMID:29453246|PMID:29874177|PMID:30615648|PMID:30847666|PMID:31112425|PMID:31114860|PMID:31337358|PMID:32048431|PMID:32233023 620314 Ryr2 ryanodine receptor 2 gene DOID:6000 congestive heart failure IDA D RGD:1599251|PMID:16483256 20070122 RGD 620314 Ryr2 ryanodine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1317019 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:630 genetic disease ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12093772|PMID:16272262|PMID:17576681|PMID:18752142|PMID:19398665|PMID:19926015|PMID:21126784|PMID:21292648|PMID:21616285|PMID:23022705|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24631775|PMID:25041964|PMID:25554238|PMID:25741868|PMID:26114861|PMID:27538377|PMID:28202948|PMID:28404607|PMID:28492532|PMID:28606196|PMID:29453246|PMID:31402444|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:7240710 20210526 OMIM 620314 Ryr2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:12093772|PMID:12459180|PMID:17576681|PMID:17984046|PMID:19216760|PMID:19926015|PMID:20132818|PMID:23396983|PMID:23671135|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25775566|PMID:25925909|PMID:26189708|PMID:26688388|PMID:27153395|PMID:27229459|PMID:27532257|PMID:27538377|PMID:27646203|PMID:28237968|PMID:28404607|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29368431|PMID:29453246|PMID:29477366|PMID:29544605|PMID:30615648|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31195250|PMID:31513939|PMID:33536282|PMID:33789662|PMID:33919104|PMID:35668055|PMID:9536098 620314 Ryr2 ryanodine receptor 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 620314 Ryr2 ryanodine receptor 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317019 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:9000727 Syncope ISO RGD:1317019 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Syncope 620314 Ryr2 ryanodine receptor 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35932045 620314 Ryr2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15749201 620314 Ryr2 ryanodine receptor 2 gene DOID:9002914 Familial Sudden Death ISO RGD:1317019 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:31913406 620314 Ryr2 ryanodine receptor 2 gene DOID:9003163 Heart Block ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35932045 620314 Ryr2 ryanodine receptor 2 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1317019 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction PMID:25741868|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18052993|PMID:20944434 620314 Ryr2 ryanodine receptor 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 620314 Ryr2 ryanodine receptor 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 620314 Ryr2 ryanodine receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1599247|PMID:17027851 20070122 RGD 620314 Ryr2 ryanodine receptor 2 gene DOID:9006030 Infant Death ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:19926015|PMID:20157052|PMID:22374134|PMID:22515980|PMID:22677073|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25370123|PMID:25741868|PMID:27435932|PMID:27538377|PMID:28125075|PMID:28404607|PMID:28492532|PMID:28567303|PMID:29396286|PMID:30403697|PMID:30835254|PMID:32152366 620314 Ryr2 ryanodine receptor 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1317019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 620314 Ryr2 ryanodine receptor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620314 Ryr2 ryanodine receptor 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:11159936|PMID:12106942|PMID:12459180|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15544015|PMID:16188589|PMID:16239587|PMID:16391617|PMID:16517285|PMID:16769042|PMID:16818210|PMID:17062961|PMID:18326664|PMID:19398665|PMID:19541610|PMID:19709828|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20961976|PMID:21315846|PMID:21616285|PMID:21659649|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23286974|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24503780|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25637381|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26332594|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28237968|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29543670|PMID:29555771|PMID:29925740|PMID:30197081|PMID:30847666|PMID:31112425|PMID:31737537|PMID:32009526|PMID:32152366|PMID:33825858 620314 Ryr2 ryanodine receptor 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1317019 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 620314 Ryr2 ryanodine receptor 2 gene DOID:9007820 Sudden Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:31513939 620314 Ryr2 ryanodine receptor 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317019 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:31913406 620314 Ryr2 ryanodine receptor 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:30615648 620314 Ryr2 ryanodine receptor 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1317019 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28404607|PMID:28492532 620314 Ryr2 ryanodine receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317019 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620315 Ppig peptidylprolyl isomerase G gene DOID:630 genetic disease ISO RGD:731455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0050567 orofacial cleft ISO RGD:731796 D RGD:13831309|PMID:27229527 20181221 RGD DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0050567 orofacial cleft ISO RGD:731796 D RGD:8554872 20210601 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731796 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:13831310|PMID:29031784 20181221 RGD 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:731796 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12522768 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:13831337|PMID:10709665 20181227 RGD 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:7240710 20130221 OMIM 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:16186124|PMID:16199547|PMID:17576681|PMID:17905308|PMID:18612766|PMID:20818383|PMID:24033266|PMID:25472526|PMID:25525159|PMID:25741868|PMID:27229527|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:31456290|PMID:9326939|PMID:9326940|PMID:9536098|PMID:9657395 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731797 D RGD:13831313|PMID:19004801 20181221 RGD 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10584 retinitis pigmentosa ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:20818383|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:9326939|PMID:9326940|PMID:9657395 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:630 genetic disease ISO RGD:731796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10767344|PMID:11555634|PMID:1155634|PMID:14974078|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9326939|PMID:9657395 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:8501 fundus dystrophy ISO RGD:731796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10767344|PMID:11555634|PMID:14974078|PMID:16199547|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9326940 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:9003094 Adult Refsum Disease, 1 ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Refsum disease, adult, 1 PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:2433405|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:9326939|PMID:9326940|PMID:9657395 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:905 Zellweger syndrome ISO RGD:731796 D RGD:13831312|PMID:8954107 20181221 RGD 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:905 Zellweger syndrome ISO RGD:731796 D RGD:13831337|PMID:10709665 20181227 RGD 620317 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:906 peroxisomal disease ISO RGD:731796 D RGD:13831311|PMID:9266377 20181221 RGD 620318 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:7240710 20130221 OMIM 620318 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complement component 7 deficiency PMID:12869030|PMID:15554930|PMID:15831990|PMID:16199547|PMID:16771861|PMID:17407100|PMID:17576681|PMID:19931914|PMID:25741868|PMID:28492532|PMID:31440263|PMID:8871666|PMID:8892662|PMID:9218625|PMID:9536098|PMID:9856499 620318 C7 complement C7 gene DOID:10976 membranous glomerulonephritis IEP D RGD:1599528|PMID:6241952 20070207 RGD 620318 C7 complement C7 gene DOID:11832 visual epilepsy IDA D RGD:1599523|PMID:12574424 20070206 RGD Protein:increased activity:brain 620318 C7 complement C7 gene DOID:5844 myocardial infarction IEP D RGD:1599522|PMID:15724448 20070206 RGD Protein:increased activity:serum, myocardium 620318 C7 complement C7 gene DOID:630 genetic disease ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620318 C7 complement C7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620318 C7 complement C7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317399 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620319 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:7240710 20230510 OMIM 620319 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complement component 9 deficiency PMID:11359403|PMID:12596049|PMID:22190594|PMID:2241452|PMID:25741868|PMID:28492532|PMID:28617419|PMID:9144525|PMID:9182899|PMID:9570574|PMID:9634479|PMID:9703418 620319 C9 complement C9 gene DOID:0080176 meningococcal meningitis ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9570574 620319 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment IEP D RGD:8661641|PMID:24494798 20160323 RGD 620319 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:7240710 20230510 OMIM 620319 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 15 PMID:24036952|PMID:28492532 620319 C9 complement C9 gene DOID:10223 dermatomyositis ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 620319 C9 complement C9 gene DOID:1790 malignant mesothelioma ISO RGD:1320687 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 620319 C9 complement C9 gene DOID:2559 opiate dependence ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 620319 C9 complement C9 gene DOID:3134 facial dermatosis ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 620319 C9 complement C9 gene DOID:4448 macular degeneration ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036952 620319 C9 complement C9 gene DOID:612 primary immunodeficiency disease ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9570574|PMID:11359403 620319 C9 complement C9 gene DOID:630 genetic disease ISO RGD:1320687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620319 C9 complement C9 gene DOID:684 hepatocellular carcinoma ISO RGD:1320687 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 620319 C9 complement C9 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1320687 D RGD:8661641|PMID:24494798 20160323 RGD protein:increased expression:urine 620319 C9 complement C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320687 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620319 C9 complement C9 gene DOID:9006976 Erythema ISO RGD:1320687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 62032 Adam7 ADAM metallopeptidase domain 7 gene DOID:5223 infertility ISO RGD:62324 D RGD:13831360|PMID:26246218 20190107 RGD 62032 Adam7 ADAM metallopeptidase domain 7 gene DOID:630 genetic disease ISO RGD:736113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620320 Olfm1 olfactomedin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 620320 Olfm1 olfactomedin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620320 Olfm1 olfactomedin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 620320 Olfm1 olfactomedin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 620320 Olfm1 olfactomedin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 620320 Olfm1 olfactomedin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 620320 Olfm1 olfactomedin 1 gene DOID:3652 Leigh disease ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 620320 Olfm1 olfactomedin 1 gene DOID:630 genetic disease ISO RGD:733478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620320 Olfm1 olfactomedin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 620320 Olfm1 olfactomedin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 620321 Hyal2 hyaluronidase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 620321 Hyal2 hyaluronidase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 620321 Hyal2 hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:733698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620321 Hyal2 hyaluronidase 2 gene DOID:6432 pulmonary hypertension IEP D RGD:9588633|PMID:19915162 20141103 RGD mRNA:decreased expression:lung 620321 Hyal2 hyaluronidase 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9588636|PMID:22529164 20141103 RGD 620321 Hyal2 hyaluronidase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620322 Cldn16 claudin 16 gene DOID:0060879 primary hypomagnesemia ISO RGD:1351544 D RGD:11554173 20180306 CTD CTD Direct Evidence: marker/mechanism 620322 Cldn16 claudin 16 gene DOID:0060879 primary hypomagnesemia ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hypomagnesemia PMID:10390358|PMID:10878661|PMID:11518780|PMID:15856319|PMID:16234325|PMID:16501001|PMID:16705067|PMID:18003771|PMID:20607983|PMID:24033266|PMID:25477417|PMID:25741868|PMID:25852890|PMID:26426912|PMID:28492532|PMID:28893421|PMID:32860008|PMID:33532864|PMID:668721 620322 Cldn16 claudin 16 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1351544 D RGD:7240710 20180228 OMIM 620322 Cldn16 claudin 16 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1351544 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement 620322 Cldn16 claudin 16 gene DOID:10763 hypertension IDA D RGD:1599616|PMID:16959063 20070208 RGD Protein:decreased serine phosphorylation:kidney 620322 Cldn16 claudin 16 gene DOID:12679 nephrocalcinosis ISO RGD:1351544 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10390358|PMID:25741868|PMID:28893421 620322 Cldn16 claudin 16 gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1351544 D RGD:1599615|PMID:10390358 20070208 RGD DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 620322 Cldn16 claudin 16 gene DOID:5419 schizophrenia ISO RGD:1351544 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620322 Cldn16 claudin 16 gene DOID:630 genetic disease ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33532864 620322 Cldn16 claudin 16 gene DOID:9001738 Hypercalciuria ISO RGD:1351544 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting PMID:14628289 620322 Cldn16 claudin 16 gene DOID:9007711 Nisch syndrome ISO RGD:1351544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 620323 Ackr2 atypical chemokine receptor 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 620323 Ackr2 atypical chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1353783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620324 Dpep1 dipeptidase 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 620324 Dpep1 dipeptidase 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1350537 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 620324 Dpep1 dipeptidase 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350537 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 620324 Dpep1 dipeptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 620324 Dpep1 dipeptidase 1 gene DOID:14780 KBG syndrome ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 620324 Dpep1 dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1350537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620324 Dpep1 dipeptidase 1 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1350537 D RGD:153344539|PMID:31541079 20220824 RGD human cells in mouse model 620324 Dpep1 dipeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1350537 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 620324 Dpep1 dipeptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:1350537 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 620324 Dpep1 dipeptidase 1 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350537 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 620325 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 620325 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1345180 D RGD:152177496|PMID:27354594 20220513 RGD DNA:SNP:3'utr: (rs1047854) C>T (human) 620325 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 620325 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620325 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:630 genetic disease ISO RGD:1345180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620325 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345180 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0050545 visceral heterotaxy ISS RGD:1552230 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0060321 umbilical hernia ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080006 bone development disease ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080700 caudal regression syndrome ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0111546 Currarino syndrome ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:10488 imperforate anus ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:11446 sciatic neuropathy IEP D RGD:11556234|PMID:9729404 20161031 RGD mRNA,protein:increased expression:nerve: 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:13938 amenorrhea ISO RGD:732125 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:11556208|PMID:18519639 20161027 RGD DNA:mutation:exon:p.C470R(mouse) 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:1657 ventricular septal defect ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:1681 heart septal defect ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:234 colon adenocarcinoma ISO RGD:732125 D RGD:11556207|PMID:19737405 20161027 RGD mRNA:decreased expression:colon: 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:557 kidney disease ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:630 genetic disease ISO RGD:732125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:850 lung disease ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9000066 Jaw Abnormalities ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001018 Mouth Abnormalities ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001471 Anorectal Malformations ISO RGD:1552230 D RGD:11556204|PMID:21480163 20161027 RGD protein:decreased expression:somite 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1552230 D RGD:11556207|PMID:19737405 20161027 RGD mRNA:decreased expression:intestine: 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11556213|PMID:12649739 20161027 RGD mRNA,protein:increased expression:artery: 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:732125 D RGD:11556214|PMID:14970114 20161027 RGD protein:increased expression:myofibroblast: 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:732125 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 620326 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1552230 D RGD:13592920 20180518 MouseDO 620327 Manea mannosidase, endo-alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1345544 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 620327 Manea mannosidase, endo-alpha gene DOID:630 genetic disease ISO RGD:1345544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620327 Manea mannosidase, endo-alpha gene DOID:9004890 Paranoid Disorders ISO RGD:1345544 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 620327 Manea mannosidase, endo-alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1345544 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686|PMID:19255376 620328 B3galt4 Beta-1,3-galactosyltransferase 4 gene DOID:0050553 JMP syndrome ISO RGD:1343637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620328 B3galt4 Beta-1,3-galactosyltransferase 4 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1343637 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 620328 B3galt4 Beta-1,3-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352737 D RGD:10401056|PMID:17618857 20150923 RGD 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10400900|PMID:24166662 20150922 RGD 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1352737 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased:expression:liver (rat) 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:13580 cholestasis ISO RGD:1352737 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:784 chronic kidney disease IEP D RGD:10400847|PMID:23045433 20150917 RGD protein:decreased expression:liver: 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1352737 D RGD:6893494|PMID:21765106 20150923 RGD mRNA,protein:increased expression:fat pad: 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352737 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 620329 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9452 fatty liver disease treatment IMP D RGD:10400884|PMID:17526931 20150922 RGD 62033 Npff neuropeptide FF-amide peptide precursor gene DOID:630 genetic disease ISO RGD:736374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62033 Npff neuropeptide FF-amide peptide precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736374 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62033 Npff neuropeptide FF-amide peptide precursor gene DOID:9005372 Inflammation IEP D RGD:61673|PMID:10220558 20100217 RGD mRNA:increased expression:spinal cord, neuron 620330 Cs citrate synthase gene DOID:0050700 cardiomyopathy ISO RGD:1606843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14568902 620330 Cs citrate synthase gene DOID:0050852 limb ischemia IDA D RGD:243049254|PMID:571116 20230410 RGD 620330 Cs citrate synthase gene DOID:0060224 atrial fibrillation ISO RGD:733217 D RGD:243048475|PMID:35013064 20230404 RGD protein:decreased expression:left cardiac atrium 620330 Cs citrate synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606843 D RGD:243048483|PMID:10354207 20230404 RGD 620330 Cs citrate synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606843 D RGD:243048472|PMID:8252591 20230404 RGD 620330 Cs citrate synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606843 D RGD:243048483|PMID:10354207 20230404 RGD 620330 Cs citrate synthase gene DOID:1459 hypothyroidism IDA D RGD:243048477|PMID:15817832 20230404 RGD 620330 Cs citrate synthase gene DOID:1459 hypothyroidism IDA D RGD:243048482|PMID:29748131 20230404 RGD 620330 Cs citrate synthase gene DOID:3312 bipolar disorder IEP D RGD:329337348|PMID:20372980 20230427 RGD protein decreased expression:prefrontal cortex 620330 Cs citrate synthase gene DOID:3312 bipolar disorder IEP D RGD:329337349|PMID:24359811 20230427 RGD protein decreased expression:brain 620330 Cs citrate synthase gene DOID:3312 bipolar disorder treatment IEP D RGD:329337351|PMID:17367908 20230427 RGD 620330 Cs citrate synthase gene DOID:5844 myocardial infarction ISO RGD:733217 D RGD:243048471|PMID:34416105 20230404 RGD protein:decreased expression:diaphragm, mitochondrion 620330 Cs citrate synthase gene DOID:5844 myocardial infarction severity IDA D RGD:243048469|PMID:1877670 20230404 RGD 620330 Cs citrate synthase gene DOID:6000 congestive heart failure IDA D RGD:243048480|PMID:23099843 20230404 RGD associated with pulmonary hypertension 620330 Cs citrate synthase gene DOID:6000 congestive heart failure ISO RGD:1606843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8922916 620330 Cs citrate synthase gene DOID:6000 congestive heart failure severity IDA D RGD:243049253|PMID:7484170 20230410 RGD 620330 Cs citrate synthase gene DOID:6000 congestive heart failure treatment IEP D RGD:243048466|PMID:28492791 20230404 RGD 620330 Cs citrate synthase gene DOID:630 genetic disease ISO RGD:1606843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620330 Cs citrate synthase gene DOID:7998 hyperthyroidism IDA D RGD:243048477|PMID:15817832 20230404 RGD 620330 Cs citrate synthase gene DOID:9001747 Ventricular Dysfunction, Left treatment IEP D RGD:243048473|PMID:31403269 20230404 RGD 620330 Cs citrate synthase gene DOID:9002055 Chronic Allograft Nephropathy treatment IDA D RGD:243048470|PMID:20005400 20230404 RGD 620330 Cs citrate synthase gene DOID:9002159 Liver Reperfusion Injury IDA D RGD:13504849|PMID:25416448 20230404 RGD 620330 Cs citrate synthase gene DOID:9002669 Hypoxia ISO RGD:1606843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 620330 Cs citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:243048479|PMID:15132986 20230404 RGD 620330 Cs citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia treatment IDA D RGD:243048481|PMID:15569775 20230404 RGD 620330 Cs citrate synthase gene DOID:9003936 Cardiomegaly IDA D RGD:243048478|PMID:12941647 20230404 RGD 620330 Cs citrate synthase gene DOID:9004484 Sepsis IEP D RGD:329337347|PMID:25299715 20230427 RGD protein:decreased expression:cerebral cortex 620330 Cs citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:329337352|PMID:21088877 20230427 RGD protein:increased expression:hippocampus 620330 Cs citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:329337354|PMID:12077722 20230427 RGD protein decreased expression:heart, soleus 620330 Cs citrate synthase gene DOID:9005930 Endotoxemia IEP D RGD:329337350|PMID:25674200 20230427 RGD protein:increased expression:gastrocnemius 620330 Cs citrate synthase gene DOID:9970 obesity ISO RGD:1606843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0050453 lissencephaly ISO RGD:1349260 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0050453 lissencephaly ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly PMID:10441340|PMID:10583396|PMID:10727864|PMID:11115846|PMID:11502906|PMID:12885786|PMID:12885796|PMID:14581661|PMID:15007136|PMID:1671808|PMID:17576681|PMID:17664403|PMID:18414213|PMID:19667223|PMID:19808989|PMID:21410694|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26494205|PMID:26633545|PMID:27891766|PMID:28492532|PMID:29671837|PMID:32238909|PMID:33176815|PMID:9063735|PMID:9147889|PMID:9536098|PMID:9817918|PMID:9860301 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0050453 lissencephaly severity ISO RGD:1349260 D RGD:11073221|PMID:11115846 20170216 RGD DNA:mutations:: 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1349260 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISS RGD:1622377 D RGD:13592920 20180518 MouseDO OMIM:247200 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10441340|PMID:11115846|PMID:11502906|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:0112237 lissencephaly 1 ISO RGD:1349260 D RGD:7240710 20210331 OMIM 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11115846|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9817918 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:11832 visual epilepsy disease_progression IEP D RGD:12790965|PMID:10398295 20170223 RGD 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:5419 schizophrenia ISO RGD:1349260 D RGD:12790585|PMID:16510495 20170216 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583396|PMID:11115846|PMID:17664403|PMID:18414213|PMID:25741868|PMID:27891766|PMID:28492532|PMID:29671837 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349260 D RGD:12790589|PMID:21569763 20170216 RGD mRNA,protein:decreased expression:liver: 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:8927 learning disability ISO RGD:1622377 D RGD:12790586|PMID:10541472 20170216 RGD 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1349260 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1349260 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:25741868 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349260 D RGD:1601499|PMID:1754098 20070423 RGD 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:9007702 Carcinogenesis ISO RGD:1349260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24487275 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1349260 D RGD:8554872 20190604 ClinVar ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia 620331 Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 gene DOID:9923 developmental coordination disorder ISO RGD:1622377 D RGD:12790586|PMID:10541472 20170216 RGD 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0060058 lymphoma ISO RGD:733676 D RGD:4107059|PMID:11983068 20100712 RGD DNA:translocation:intron:t(ll;14)(q23;q32) (human) 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0080690 RASopathy ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:1059 intellectual disability ISO RGD:733676 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:733676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733676 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620332 Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 gene DOID:9007661 Dwarfism ISO RGD:733676 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732942 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:2340 craniosynostosis ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:5419 schizophrenia ISO RGD:732942 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:732942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 620333 Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 gene DOID:9269 maple syrup urine disease ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 620334 Dffa DNA fragmentation factor subunit alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 620334 Dffa DNA fragmentation factor subunit alpha gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620334 Dffa DNA fragmentation factor subunit alpha gene DOID:0111936 immunodeficiency 14 ISO RGD:1606338 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 620334 Dffa DNA fragmentation factor subunit alpha gene DOID:630 genetic disease ISO RGD:1606338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620335 Dffb DNA fragmentation factor subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731033 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620335 Dffb DNA fragmentation factor subunit beta gene DOID:11372 megacolon ISO RGD:731033 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620335 Dffb DNA fragmentation factor subunit beta gene DOID:224 transient cerebral ischemia IEP D RGD:628524|PMID:11425895 20130806 RGD mRNA, protein:increased expression:hippocampus CA1 620335 Dffb DNA fragmentation factor subunit beta gene DOID:630 genetic disease ISO RGD:731033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620335 Dffb DNA fragmentation factor subunit beta gene DOID:9004203 Chromosome Breakage ISO RGD:731033 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31401084 620335 Dffb DNA fragmentation factor subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731033 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620336 Pcdha3 protocadherin alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:732264 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620336 Pcdha3 protocadherin alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732264 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620336 Pcdha3 protocadherin alpha 3 gene DOID:10283 prostate cancer ISO RGD:732264 D RGD:8554872 20190101 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620336 Pcdha3 protocadherin alpha 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620336 Pcdha3 protocadherin alpha 3 gene DOID:2228 thrombocytosis ISO RGD:732264 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 620336 Pcdha3 protocadherin alpha 3 gene DOID:630 genetic disease ISO RGD:732264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620336 Pcdha3 protocadherin alpha 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:732264 D RGD:11554173 20190101 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620336 Pcdha3 protocadherin alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732264 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620336 Pcdha3 protocadherin alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732264 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620337 Pcdha4 protocadherin alpha 4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733347 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620337 Pcdha4 protocadherin alpha 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733347 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620337 Pcdha4 protocadherin alpha 4 gene DOID:10283 prostate cancer ISO RGD:733347 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620337 Pcdha4 protocadherin alpha 4 gene DOID:10487 Hirschsprung's disease ISO RGD:733347 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620337 Pcdha4 protocadherin alpha 4 gene DOID:2228 thrombocytosis ISO RGD:733347 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 620337 Pcdha4 protocadherin alpha 4 gene DOID:630 genetic disease ISO RGD:733347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620337 Pcdha4 protocadherin alpha 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733347 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620337 Pcdha4 protocadherin alpha 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733347 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620338 Pcdha8 protocadherin alpha 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346741 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620338 Pcdha8 protocadherin alpha 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346741 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620338 Pcdha8 protocadherin alpha 8 gene DOID:10283 prostate cancer ISO RGD:1346741 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620338 Pcdha8 protocadherin alpha 8 gene DOID:10487 Hirschsprung's disease ISO RGD:1346741 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620338 Pcdha8 protocadherin alpha 8 gene DOID:2228 thrombocytosis ISO RGD:1346741 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 620338 Pcdha8 protocadherin alpha 8 gene DOID:630 genetic disease ISO RGD:1346741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620338 Pcdha8 protocadherin alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346741 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620338 Pcdha8 protocadherin alpha 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346741 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0050476 Barth syndrome ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:7240710 20170301 OMIM 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y PMID:24218363|PMID:25326635|PMID:25741868|PMID:26264460|PMID:28492532 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:736749 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:12849 autistic disorder ISO RGD:736749 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:13628 favism ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:2729 dyskeratosis congenita ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:607 paraplegia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:630 genetic disease ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62034 Ssr4 signal sequence receptor subunit 4 gene DOID:9002720 Splenomegaly ISO RGD:736749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 620340 Slc1a6 solute carrier family 1 member 6 gene DOID:630 genetic disease ISO RGD:732902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620341 Palm paralemmin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1344376 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 620341 Palm paralemmin gene DOID:5339 cyclic hematopoiesis ISO RGD:1344376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620341 Palm paralemmin gene DOID:630 genetic disease ISO RGD:1344376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620342 Rph3al rabphilin 3A-like (without C2 domains) gene DOID:630 genetic disease ISO RGD:1347963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620342 Rph3al rabphilin 3A-like (without C2 domains) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 620344 Bst1 bone marrow stromal cell antigen 1 gene DOID:0050777 Joubert syndrome ISO RGD:1342632 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 620344 Bst1 bone marrow stromal cell antigen 1 gene DOID:14330 Parkinson's disease ISO RGD:1342632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19915576 620344 Bst1 bone marrow stromal cell antigen 1 gene DOID:630 genetic disease ISO RGD:1342632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620344 Bst1 bone marrow stromal cell antigen 1 gene DOID:850 lung disease ISO RGD:1342632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 620346 Zg16 zymogen granule protein 16 gene DOID:0060041 autism spectrum disorder ISO RGD:732666 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 620346 Zg16 zymogen granule protein 16 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 620346 Zg16 zymogen granule protein 16 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732666 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 620346 Zg16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 620346 Zg16 zymogen granule protein 16 gene DOID:12849 autistic disorder ISO RGD:732666 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620346 Zg16 zymogen granule protein 16 gene DOID:1882 atrial heart septal defect ISO RGD:732666 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 620346 Zg16 zymogen granule protein 16 gene DOID:5419 schizophrenia ISO RGD:732666 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620346 Zg16 zymogen granule protein 16 gene DOID:630 genetic disease ISO RGD:732666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620346 Zg16 zymogen granule protein 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732666 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620346 Zg16 zymogen granule protein 16 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732666 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 620348 Cav2 caveolin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1343117 D RGD:8661771|PMID:20558341 20140616 RGD protein:increased expression:mucosa of tongue 620348 Cav2 caveolin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1343117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 620348 Cav2 caveolin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1343117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 620348 Cav2 caveolin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:1343117 D RGD:8661770|PMID:24572674 20140616 RGD DNA:SNPs: :rs10278782, rs1052990 (human) 620348 Cav2 caveolin 2 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:1343117 D RGD:8661774|PMID:23743525 20140616 RGD DNA:SNP: :rs1052990 (human) 620348 Cav2 caveolin 2 gene DOID:3070 high grade glioma IEP D RGD:6784517|PMID:22528460 20120801 RGD 620348 Cav2 caveolin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343117 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620348 Cav2 caveolin 2 gene DOID:630 genetic disease ISO RGD:1343117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620348 Cav2 caveolin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1343117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 620348 Cav2 caveolin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 620348 Cav2 caveolin 2 gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:1625364|PMID:17060028 20070605 RGD 620348 Cav2 caveolin 2 gene DOID:9970 obesity IEP D RGD:6784520|PMID:22492718 20120802 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:5135280|PMID:21319594 20110719 RGD DNA:SNPs: :3050G>C, 8473C>T (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:5135461|PMID:20203246 20110722 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:5135507|PMID:14511257 20110725 RGD protein:decreased expression:lung: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11978490 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731006 D RGD:4891909|PMID:18413499 20110726 RGD protein:increased expression:endothelial cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:19522023 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731006 D RGD:2300203|PMID:18199541 20080908 RGD mRNA, protein:decreased expression:breast 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731006 D RGD:2300199|PMID:18237383 20080908 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis treatment IEP D RGD:2298659|PMID:17543437 20131120 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060903 thrombosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20350286 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:731007 D RGD:11086779|PMID:26723251 20190628 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080322 polycystic kidney disease IMP D RGD:2300262|PMID:17537981 20080910 RGD protein:increased expression:kidney 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080600 COVID-19 ISO RGD:731006 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080820 occupational asthma ISO RGD:731006 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:5143936|PMID:9487340 20110727 RGD protein:increased expression:mast cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism IDA D RGD:5688269|PMID:16781689 20120223 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:5508224|PMID:21376018 20111011 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:5688225|PMID:15306248 20120221 RGD mRNA, protein:increased expression:neostriatum 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:731006 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10247 pleurisy IDA D RGD:4142808|PMID:20141620 20110722 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10247 pleurisy IEP D RGD:5143929|PMID:15740981 20110727 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:731006 D RGD:11554936|PMID:26788504 20180212 RGD DNA:SNP:promoter:-1195G>A (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease IMP D RGD:5688147|PMID:21701788 20111007 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:5688252|PMID:9740394 20120222 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:5688254|PMID:8892355 20120222 RGD mRNA:decreased expression:neocortex, hippocampus 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1067 open-angle glaucoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330497 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10762 portal hypertension IMP D RGD:1642587|PMID:17876871 20071002 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension IAGP D RGD:1580671|PMID:16467505 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension IAGP D RGD:1581285|PMID:15775781 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14757778|PMID:15834289|PMID:20667508|PMID:22349312 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer IMP D RGD:2300260|PMID:17673547 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9024292|PMID:10594344|PMID:11376495|PMID:12481160|PMID:19066340 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731007 D RGD:2300260|PMID:17673547 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731006 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12442003|PMID:12664575|PMID:16098373|PMID:17093206|PMID:29396848|PMID:36115647 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731007 D RGD:2300200|PMID:18222600 20080908 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731006 D RGD:5508302|PMID:21255800 20111012 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731006 D RGD:2300127|PMID:18381966 20080905 RGD DNA:SNP:3' utr:837T>C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11111 hydronephrosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22430074 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:731006 D RGD:11566048|PMID:25546515 20161130 RGD protein:increased expression:prostate gland 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis ISO RGD:731006 D RGD:5135507|PMID:14511257 20110725 RGD protein:decreased expression:lung: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:731006 D RGD:5135505|PMID:19042116 20110725 RGD DNA:SNP: :8473 T > C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11383 cryptorchidism ISO RGD:731007 D RGD:11567213|PMID:22777528 20161201 RGD mRNA, protein:increased expression:testis 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:118 pericardial effusion ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20801906 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11832 visual epilepsy IEP D RGD:1642596|PMID:17827730 20071002 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1184 nephrotic syndrome IMP D RGD:2317535|PMID:19194550 20100408 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731006 D RGD:5688237|PMID:12663931 20140131 RGD mRNA, protein:increased expression:neuron 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11963 esophagitis ISO RGD:731006 D RGD:5131286|PMID:20811626 20110719 RGD associated with carcinoma, non-small-cell lung; 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism IMP D RGD:5135046|PMID:21335517 20110712 RGD associated with Uremia 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:731006 D RGD:5135046|PMID:21335517 20110712 RGD associated with kidney failure, chronic: protein:increased expression:parathyroid gland 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18579107 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12858 Huntington's disease IMP D RGD:5508227|PMID:21362433 20111011 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17518513 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:5508196|PMID:21843325 20111006 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1324 lung cancer IMP D RGD:5135048|PMID:21303331 20110712 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:13948 bladder neck obstruction ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15311063 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20155627 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:14654 prostatitis IEP D RGD:5135220|PMID:18554636 20110713 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:5135298|PMID:20720307 20110719 RGD DNA:SNPs: :-765G>C and 8473T>C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:5135523|PMID:18711055 20110726 RGD protein:increased expression:nasal mucosa 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731006 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1561 cognitive disorder ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12410334 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1596 depressive disorder ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19356723 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1679 cystitis IMP D RGD:5135058|PMID:20602232 20110712 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12481160 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:18202791 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:10657949|PMID:15705899|PMID:16820089 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:2317175|PMID:20216081 20100317 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:2317179|PMID:19820419 20100317 RGD mRNA, protein:increased expression:pancreas 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:2317184|PMID:19422084 20100318 RGD DNA:polymorphisms: :-1195A>A ,-765G>C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:5135527|PMID:19062735 20110726 RGD DNA:SNPs: :-1195A > G, -765G > C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus IMP D RGD:5135057|PMID:20643531 20110712 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988310 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1909 melanoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863|PMID:17499752|PMID:18454317 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1967 leiomyosarcoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2154 nephroblastoma ISO RGD:731006 D RGD:2300206|PMID:16945639 20080908 RGD protein:increased expression:kidney 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia IDA D RGD:1581286|PMID:12535784 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia IEP D RGD:6480433|PMID:21718970 20110708 RGD protein:increased expression:hippocampus 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:17394460|PMID:17564305|PMID:19417757 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731007 D RGD:5688292|PMID:11158633 20120227 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis ISO RGD:731006 D RGD:1581287|PMID:16458279 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis resistance ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17643885|REF_RGD_ID:1642592 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis severity ISO RGD:731007 D RGD:1642592|PMID:17643885 20071002 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2384 Wernicke encephalopathy IMP D RGD:2300278|PMID:18481165 20080910 RGD mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2615 papilloma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:16144915 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12151359|PMID:12664575 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731006 D RGD:2300124|PMID:18449376 20080905 RGD protein:increased expression:urinary bladder 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma IEP D RGD:5135534|PMID:18097056 20110726 RGD mRNA, protein:increased expression:lung: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731006 D RGD:5135515|PMID:19862936 20110726 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:5135514|PMID:19878559 20110726 RGD mRNA:increased expression:lung 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:5135522|PMID:19342146 20110726 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma severity ISO RGD:731006 D RGD:5135526|PMID:18489027 20110726 RGD DNA:SNP: :rs689465 (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:5143923|PMID:17573729 20110727 RGD DNA:SNP: :8473T>C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:5143931|PMID:15316498 20110727 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis IMP D RGD:5135061|PMID:20056215 20110712 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis treatment IDA D RGD:7257718|PMID:23406865 20150728 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma IMP D RGD:1642603|PMID:17675820 20071003 RGD associated with Esophageal Neoplasms 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:16820089 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2999 granulosa cell tumor ISO RGD:731006 D RGD:2289157|PMID:11994539 20080422 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21153458 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3021 acute kidney failure IMP D RGD:5508181|PMID:21893983 20111006 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:305 carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10485483 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma IEP D RGD:5688250|PMID:10229132 20120222 RGD protein:increased expression:endothelial cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma disease_progression ISO RGD:731006 D RGD:5688245|PMID:11121536 20120222 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3070 high grade glioma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15561105 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3071 gliosarcoma IEP D RGD:5688250|PMID:10229132 20120222 RGD protein:increased expression:endothelial cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:5135277|PMID:21655952 20110719 RGD DNA:polymorphism: :g.-765G>C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:5143926|PMID:15949313 20110727 RGD protein:increased expression:sputum 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731006 D RGD:5688228|PMID:14694045 20120221 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731007 D RGD:5688267|PMID:21530210 20120223 RGD mRNA:increased expression:brain 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3312 bipolar disorder ISO RGD:731006 D RGD:5688160|PMID:20038946 20120220 RGD mRNA, protein:increased expression:prefrontal cortex 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11220737|PMID:15816863 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:5688235|PMID:14511332 20120222 RGD protein:increased expression:spinal cord, neuron, glia 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14642682 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731007 D RGD:2317185|PMID:18670639 20100318 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:37 skin disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15451306 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731006 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:15756444|PMID:16543248|PMID:18197933 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis IEP D RGD:1642597|PMID:17825173 20071002 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731006 D RGD:5135504|PMID:21681100 20110725 RGD associated with sarcoidosis; DNA:SNP: :-765G>C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:5135302|PMID:20592629 20110719 RGD protein:increased expression:lung 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:5135471|PMID:20016751 20110722 RGD DNA:SNP: :929G>C(human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4029 gastritis IMP D RGD:2300274|PMID:18646190 20080910 RGD mRNA:increased expression:stomach mucosa 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:403 mouth disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:418 systemic scleroderma ISO RGD:731006 D RGD:5508306|PMID:21979415 20111012 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4195 hyperglycemia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14514642 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma IEP D RGD:2300212|PMID:12708469 20080909 RGD mRNA:decreased expression:kidney 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731006 D RGD:2300204|PMID:17899436 20080908 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4481 allergic rhinitis ISO RGD:731006 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16979129 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4492 avian influenza ISO RGD:731006 D RGD:5135502|PMID:18613795 20110725 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4543 retrograde amnesia IMP D RGD:2300277|PMID:18523723 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12507933 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731006 D RGD:13207437|PMID:12055587 20170801 RGD protein: increased expression: esophagus 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:2317180|PMID:19621664 20100317 RGD protein:increased expression:bile duct 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19820421 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis onset ISO RGD:731007 D RGD:5508226|PMID:21372163 20111011 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731006 D RGD:14695008|PMID:29109031 20190627 RGD human gene in mouse model 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:526 human immunodeficiency virus infectious disease IEP D RGD:5508195|PMID:21846384 20111006 RGD mRNA, protein:increased expression:brain 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5394 prolactinoma ISO RGD:731006 D RGD:11667097|PMID:22580984 20170116 RGD mRNA:increased expression:pituitary gland 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5419 schizophrenia IEP D RGD:1642594|PMID:17881518 20071002 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731006 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:557 kidney disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:576 proteinuria ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:731006 D RGD:1581289|PMID:15138244 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:731006 D RGD:11667097|PMID:22580984 20170116 RGD mRNA:increased expression:pituitary gland 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:630 genetic disease ISO RGD:731006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension IMP D RGD:2300276|PMID:18542928 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:731007 D RGD:5135495|PMID:19577709 20110725 RGD anoxia associated; 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:2300283|PMID:18373278 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11872629|PMID:12024111|PMID:14563831|PMID:16374840|PMID:17510421 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:14695011|PMID:24759835 20190628 RGD mRNA,protein:decreased expression:liver 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731006 D RGD:14695012|PMID:15800977 20190628 RGD protein:increased expression:liver, cytosol 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731006 D RGD:14695010|PMID:24720952 20190628 RGD DNA:SNP:promoter:-1195A>G (rs689466) (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:707 B-cell lymphoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14654083 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11978490|PMID:19192274 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:5508313|PMID:21905970 20111012 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16514081 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:783 end stage renal disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:820 myocarditis ISO RGD:731007 D RGD:1581288|PMID:16107267 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis ISO RGD:731006 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32004530 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:731006 D RGD:1625347|PMID:15334463 20070604 RGD DNA:SNP (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8437 intestinal obstruction IEP D RGD:5135055|PMID:21051526 20110712 RGD protein:increased expression:colon 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:850 lung disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19084589 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21451212 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8577 ulcerative colitis IMP D RGD:2300267|PMID:17429720 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:863 nervous system disease ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:731006 D RGD:2300123|PMID:18468781 20080905 RGD protein:altered localization 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:2317186|PMID:18617777 20100318 RGD protein:increased expression:pancreas 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731007 D RGD:2317187|PMID:17652141 20100318 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8778 Crohn's disease IEP D RGD:5508200|PMID:21763290 20111007 RGD protein:increased expression:colon 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:731006 D RGD:2299119|PMID:18565574 20080905 RGD protein:increased expression:uterine cervix, epithelial cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731006 D RGD:2317181|PMID:19606394 20100317 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731007 D RGD:2317188|PMID:17575102 20100318 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:731006 D RGD:2317182|PMID:19455278 20100317 RGD DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5135219|PMID:18606213 20110713 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19376970 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:2300128|PMID:18353210 20080905 RGD associated with Breast Neoplasms 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:2317165|PMID:18159174 20100318 RGD associated with Biliary Tract Neoplasms 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:5135471|PMID:20016751 20110722 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms IEP D RGD:5687745|PMID:22165968 20120210 RGD mRNA,protein:increased expression:Esophagus 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:16322294|PMID:17707579 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms susceptibility ISO RGD:731006 D RGD:5135528|PMID:16083713 20110726 RGD DNA:SNPs: :-1195A > G, -765G > C (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000197 Edema ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10404093|PMID:17003101|PMID:17224647|PMID:22385256 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15492235 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731007 D RGD:5508204|PMID:21725746 20111007 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain IEP D RGD:2300223|PMID:18637715 20080909 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain IMP D RGD:2300228|PMID:18497304 20080909 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain susceptibility ISO RGD:731006 D RGD:5135482|PMID:19773451 20110722 RGD associated with lung neoplasm;DNA:SNP:exon:rs5275 (human) 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis IMP D RGD:2300279|PMID:18462380 20080910 RGD associated with Cholestasis 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11872629 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:2290567|PMID:17699727 20080910 RGD protein:increased expression:intestine 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000945 Ventilator-Induced Lung Injury IMP D RGD:5134956|PMID:21048090 20110719 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:2300249|PMID:18398660 20080909 RGD associated with Mammary Neoplasms, Experimental 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16489006|PMID:18509974 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:2300119|PMID:18663571 20080905 RGD associated with Breast Neoplasms 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:5135498|PMID:19421193 20110725 RGD associated with breast neoplasm; 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:5135500|PMID:18797196 20110725 RGD associated with osteosarcoma; 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731007 D RGD:5135282|PMID:21238650 20110719 RGD associated with lung neoplasm 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever IMP D RGD:5508203|PMID:21741371 20111007 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries IMP D RGD:5508191|PMID:21866634 20111006 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12410334|PMID:20810888|PMID:21549006 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731007 D RGD:5688162|PMID:19719848 20120220 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001109 Anorexia treatment IMP D RGD:13825124|PMID:22902858 20181114 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:731007 D RGD:5688289|PMID:16318954 20120227 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:5688227|PMID:14871450 20120221 RGD protein:increased expression: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:731006 D RGD:5688227|PMID:14871450 20120221 RGD protein:increased expression: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:731006 D RGD:5143924|PMID:16517580 20110727 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:731007 D RGD:5143925|PMID:16272346 20110727 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001542 Albuminuria ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17890881 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17565644|PMID:18555214 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17539917 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001642 Intestinal Polyps ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:11245490|PMID:11507063 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies IMP D RGD:5135032|PMID:21441310 20110711 RGD associated with Diabetes Mellitus, Experimental 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies IMP D RGD:5688268|PMID:17112505 20120223 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia IMP D RGD:5688224|PMID:15464832 20120221 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17112505|PMID:17989504 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002221 Hyperplasia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:17093206|PMID:22561872 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16314473 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2308941|PMID:17272666 20090619 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10753955|PMID:14754878|PMID:15126378|PMID:16506214|PMID:17609663 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:2300123|PMID:18468781 20080905 RGD protein:altered localization 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731006 D RGD:2300193|PMID:18242387 20080908 RGD DNA:hypermethylation 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:5687744|PMID:22289897 20120210 RGD mRNA, protein:increased expression:synovium 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis IMP D RGD:2300221|PMID:18758904 20080909 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:731007 D RGD:5508310|PMID:21765105 20111012 RGD protein:increased expression:autopod joint 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002589 Bone Fractures IMP D RGD:5135218|PMID:18795192 20110713 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002669 Hypoxia ISO RGD:731007 D RGD:5135519|PMID:19710084 20110726 RGD protein:increased expression:pulmonary artery 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:5508223|PMID:21385433 20111011 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731007 D RGD:5508223|PMID:21385433 20120220 RGD protein:increased expression:neuron, astrocyte, blood vessel 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731006 D RGD:2300209|PMID:14766256 20080908 RGD protein:increased expression:ovary 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731006 D RGD:2298936|PMID:18171606 20080804 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5688250|PMID:10229132 20120222 RGD protein:increased expression:endothelial cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731007 D RGD:5688149|PMID:21667309 20120220 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms IMP D RGD:5135051|PMID:21268133 20110712 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:17667525|PMID:21081470 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731006 D RGD:2299119|PMID:18565574 20080905 RGD protein:increased expression:uterine cervix, epithelial cell 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9003507 Premature Birth ISO RGD:731006 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:26055944|PMID:27748297 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:731006 D RGD:5135434|PMID:20429377 20110720 RGD protein:increased expression:larynx 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury IDA D RGD:1580660|PMID:16247333 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5135045|PMID:21394482 20110712 RGD protein:decreased expression:kidney 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury IMP D RGD:5508180|PMID:21944479 20111006 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10588920|PMID:10594344|PMID:11567657|PMID:16386242|PMID:18258783|PMID:19673871 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16489006 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 calcification of aortic valve ISO RGD:731007 D RGD:13207434|PMID:25722432 20170731 RGD protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 calcification of aortic valve disease_progression ISO RGD:731007 D RGD:9068941 20200609 RGD protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells PMID:25722432|REF_RGD_ID:13207434 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17499752|PMID:19748995|PMID:21159610 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure IMP D RGD:2300286|PMID:18336855 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure severity ISO RGD:731006 D RGD:14695009|PMID:19017995 20190628 RGD human gene in mouse model 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury IEP D RGD:5135496|PMID:19567182 20110725 RGD protein:increased expression:lung 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731007 D RGD:5135287|PMID:20926798 20110719 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:2300276|PMID:18542928 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:731006 D RGD:2300126|PMID:18400268 20080905 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14566678 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:5135030|PMID:21623034 20110711 RGD mRNA:increased expression:breast 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:2300130|PMID:18279516 20080905 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731007 D RGD:2300118|PMID:18676768 20080905 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation IMP D RGD:1642601|PMID:17701021 20071003 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation IMP D RGD:2300281|PMID:18435714 20080910 RGD associated with Cholestasis 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation IMP D RGD:2300287|PMID:18266613 20080910 RGD associated with Ileus 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11094054|PMID:11321505|PMID:19084589 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642588|PMID:17720896 20071002 RGD protein:increased expression:sciatic nerve 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2300222|PMID:18706904 20080909 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135278|PMID:21521772 20110719 RGD protein:increased expression:lung 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14514642|PMID:21414306 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:22561872 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005930 Endotoxemia IEP D RGD:5135029|PMID:21641970 20110711 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9006646 Metabolic Syndrome IEP D RGD:1642586|PMID:17883899 20071002 RGD protein:increased expression:liver 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:5688236|PMID:12916703 20120222 RGD protein:increased expression: 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007073 Cough ISO RGD:731006 D RGD:5135513|PMID:20696045 20110725 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:1581289|PMID:15138244 19990101 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis IMP D RGD:2300247|PMID:18480553 20080909 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:731007 D RGD:1642600|PMID:17822719 20071003 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007284 Precocious Puberty ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007346 Cachexia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms IMP D RGD:5135063|PMID:20051374 20110712 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11743745 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:731006 D RGD:5135499|PMID:19736197 20110725 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731006 D RGD:2300125|PMID:18416056 20080905 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007730 Burns ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2300261|PMID:17660401 20080910 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007980 Sleep Deprivation ISO RGD:731007 D RGD:6480426|PMID:18077435 20120321 RGD mRNA:increased expression:brain 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:11375891|PMID:12837940|PMID:15753380|PMID:19671906|PMID:20427397 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16127422|PMID:16870006|PMID:17285134|PMID:18498876|PMID:18509974 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:2300120|PMID:18612134 20080905 RGD mRNA:decreased expression:breast 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:2300210|PMID:14605950 20080908 RGD mRNA, protein:increased expression:breast 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:731006 D RGD:2300129|PMID:18334709 20080905 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17761345 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus IMP D RGD:1642603|PMID:17675820 20071003 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:15387324|PMID:17244951 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:13207438|PMID:12105834 20170801 RGD mRNA: increased expression: Esophagus 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:7349348|PMID:23011828 20130920 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731006 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15885672 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731007 D RGD:5143927|PMID:15885672 20110727 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2300222|PMID:18706904 20080909 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9452 fatty liver disease IMP D RGD:5135028|PMID:21643627 20110711 RGD mRNA,protein:increased expression:liver 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9655 oral mucosa leukoplakia ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18202791 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9675 pulmonary emphysema IMP D RGD:4891488|PMID:20472710 20110720 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy IEP D RGD:5508311|PMID:21951301 20111012 RGD mRNA, protein:increased expression:peripheral nerve 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy IMP D RGD:1642588|PMID:17720896 20071002 RGD 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 620349 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731007 D RGD:5508307|PMID:21978752 20111012 RGD protein:increased expression:liver 62035 Cd37 CD37 molecule gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 62035 Cd37 CD37 molecule gene DOID:630 genetic disease ISO RGD:1346523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620350 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 620350 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736379 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620350 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:12849 autistic disorder ISO RGD:736379 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620350 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:630 genetic disease ISO RGD:736379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:0050888 syndromic intellectual disability ISO RGD:731783 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:0080855 Parkinsonism IEP D RGD:10401814|PMID:18805403 20151007 RGD protein:decreased expression:striatum 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:1618666 D RGD:10401797|PMID:18410522 20151007 RGD 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:1618666 D RGD:10401801|PMID:22623685 20151007 RGD 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:731783 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:1596 depressive disorder ISO RGD:731783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:2340 craniosynostosis ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:3312 bipolar disorder ISO RGD:731783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731783 D RGD:2301741|PMID:12675919 20151007 RGD 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:5419 schizophrenia ISO RGD:731783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:5419 schizophrenia ISO RGD:731783 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:630 genetic disease ISO RGD:731783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9003816 Macrocephaly ISO RGD:731783 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Macrocephaly 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1618666 D RGD:10401823|PMID:17855351 20151007 RGD 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10401824|PMID:8526919 20151007 RGD 620351 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9269 maple syrup urine disease ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:7240710 20190315 OMIM 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:7240710 20170621 OMIM 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive PMID:16155110|PMID:21549803|PMID:22187496|PMID:22497660|PMID:25732997|PMID:25741868|PMID:27693233|PMID:28492532|PMID:7609449|PMID:8479824 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732748 D RGD:9681470|PMID:12056860 20141202 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:7240710 20130221 OMIM 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 PMID:10364542|PMID:10926541|PMID:11756613|PMID:12112115|PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:8644740 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:732748 D RGD:9681463|PMID:21958963 20141202 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732748 D RGD:1580621|PMID:15551024 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:11830 myopia ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopia PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732748 D RGD:1580619|PMID:16155110 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732748 D RGD:1580620|PMID:15792871 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732748 D RGD:1580622|PMID:12565915 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732748 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732748 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:12935 alcoholic cardiomyopathy IEP D RGD:9681464|PMID:21169901 20141202 RGD mRNA, protein:decreased expression:myocardium 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:630 genetic disease ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27693233|PMID:28492532 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:699 mitochondrial myopathy ISO RGD:732748 D RGD:1580619|PMID:16155110 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:699 mitochondrial myopathy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:732748 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:732749 D RGD:1581261|PMID:10220377 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9003936 Cardiomegaly treatment IMP D RGD:9681469|PMID:17210842 20141202 RGD associated with Hypertension 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732748 D RGD:1580618|PMID:16501242 19990101 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:732748 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18945756 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9007346 Cachexia IEP D RGD:13782066|PMID:23200745 20180817 RGD associated with hepatocellular carcinoma 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9007736 Vertigo ISO RGD:732748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:9681554|PMID:24126566 20141203 RGD 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:25741868|PMID:28492532 620352 Slc25a4 solute carrier family 25 member 4 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 620353 Slc25a5 solute carrier family 25 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732042 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620353 Slc25a5 solute carrier family 25 member 5 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:732042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 620353 Slc25a5 solute carrier family 25 member 5 gene DOID:12849 autistic disorder ISO RGD:732042 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620353 Slc25a5 solute carrier family 25 member 5 gene DOID:1324 lung cancer ISO RGD:732042 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 620353 Slc25a5 solute carrier family 25 member 5 gene DOID:5409 lung small cell carcinoma ISO RGD:732042 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 620353 Slc25a5 solute carrier family 25 member 5 gene DOID:630 genetic disease ISO RGD:732042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620354 Myh2 myosin heavy chain 2 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1347033 D RGD:7240710 20131030 OMIM 620354 Myh2 myosin heavy chain 2 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:11114175|PMID:11889243|PMID:15548556|PMID:15741996|PMID:16130113|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20418530|PMID:22349865|PMID:22406018|PMID:23388406|PMID:23489661|PMID:24033266|PMID:24193343|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29934118|PMID:31127727|PMID:31321302|PMID:31407473|PMID:32578970|PMID:33250842|PMID:9536098 620354 Myh2 myosin heavy chain 2 gene DOID:3429 inclusion body myositis ISO RGD:1347033 D RGD:1600532|PMID:11114175 20070313 RGD IBM3, OMIM:605637, DNA:point mutation:exon:E706K 620354 Myh2 myosin heavy chain 2 gene DOID:3429 inclusion body myositis ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy 3 PMID:16199547|PMID:20418530|PMID:23388406|PMID:24033266|PMID:24193343|PMID:25741868|PMID:28492532 620354 Myh2 myosin heavy chain 2 gene DOID:423 myopathy ISO RGD:1347033 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Myopathy 620354 Myh2 myosin heavy chain 2 gene DOID:630 genetic disease ISO RGD:1347033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620354 Myh2 myosin heavy chain 2 gene DOID:9884 muscular dystrophy ISO RGD:1347033 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:7240710 20130221 OMIM 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:112567|PMID:15098240|PMID:15215498|PMID:15368507|PMID:18513679|PMID:18698629|PMID:19320654|PMID:20830804|PMID:23918704|PMID:24300290|PMID:25741868|PMID:26402641|PMID:26572954|PMID:27753269|PMID:28492532|PMID:29453417|PMID:29620724|PMID:30200136|PMID:32639237|PMID:9039660 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1352183 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:0080006 bone development disease ISO RGD:1352183 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:28492532 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1352183 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:0111330 combined saposin deficiency ISO RGD:1352183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:14764 Larsen syndrome ISO RGD:1352183 D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:28492532 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1352183 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:28492532 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1352183 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30200136 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1352183 D RGD:1600853|PMID:15215498 20070328 RGD spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1352183 D RGD:9068941 20200609 RGD spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q PMID:15215498|REF_RGD_ID:1600853 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:5419 schizophrenia ISS RGD:732189 D RGD:13592920 20180518 MouseDO OMIM:181500 620355 Chst3 carbohydrate sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1352183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620356 Myh8 myosin heavy chain 8 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1345305 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 620356 Myh8 myosin heavy chain 8 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1345305 D RGD:1600548|PMID:15282353 20070313 RGD Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q 620356 Myh8 myosin heavy chain 8 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1345305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:25741868 620356 Myh8 myosin heavy chain 8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1345305 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 620356 Myh8 myosin heavy chain 8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:12914760|PMID:17041932 20170712 RGD DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) 620356 Myh8 myosin heavy chain 8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:7240710 20130221 OMIM 620356 Myh8 myosin heavy chain 8 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:1345305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:12800911|PMID:15282353|PMID:15590965|PMID:1600999|PMID:17041932|PMID:18049072|PMID:18414213|PMID:20949528|PMID:25305228|PMID:25741868|PMID:28492532|PMID:4443857|PMID:4837286 620356 Myh8 myosin heavy chain 8 gene DOID:10283 prostate cancer ISO RGD:1345305 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620356 Myh8 myosin heavy chain 8 gene DOID:14566 disease of cellular proliferation ISO RGD:1345305 D RGD:1600548|PMID:15282353 20070313 RGD Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q 620356 Myh8 myosin heavy chain 8 gene DOID:630 genetic disease ISO RGD:1345305 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620356 Myh8 myosin heavy chain 8 gene DOID:9000219 Carney Complex Variant ISO RGD:1345305 D RGD:7240710 20130221 OMIM 620356 Myh8 myosin heavy chain 8 gene DOID:9000219 Carney Complex Variant ISO RGD:1345305 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carney complex variant PMID:12800911|PMID:15282353|PMID:15590965|PMID:1600999|PMID:17041932|PMID:18049072|PMID:20949528|PMID:25741868|PMID:28492532|PMID:4443857|PMID:4837286 620356 Myh8 myosin heavy chain 8 gene DOID:9007661 Dwarfism ISO RGD:1345305 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 620356 Myh8 myosin heavy chain 8 gene DOID:9884 muscular dystrophy ISO RGD:1345305 D RGD:12914761|PMID:3513005 20170712 RGD protein:increased expression:muscle: 620357 Ecm1 extracellular matrix protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620357 Ecm1 extracellular matrix protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620357 Ecm1 extracellular matrix protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620357 Ecm1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:7240710 20130221 OMIM 620357 Ecm1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:734912|PMID:11929856 20061220 RGD 620357 Ecm1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipid proteinosis PMID:11929856|PMID:12472532|PMID:12603844|PMID:15327549|PMID:16172042|PMID:17063986|PMID:17199583|PMID:17927570|PMID:24413997|PMID:24708644|PMID:25529926|PMID:25741868|PMID:26803878|PMID:28492532|PMID:28720532 620357 Ecm1 extracellular matrix protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605731 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620357 Ecm1 extracellular matrix protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620357 Ecm1 extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1605731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620357 Ecm1 extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605731 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620357 Ecm1 extracellular matrix protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1605731 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 620357 Ecm1 extracellular matrix protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605731 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31472228 620357 Ecm1 extracellular matrix protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620357 Ecm1 extracellular matrix protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605731 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620358 Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:736264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620358 Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:4079 heart valve disease ISS RGD:733502 D RGD:13592920 20190725 MouseDO 620358 Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:736264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620359 Gls2 glutaminase 2 gene DOID:630 genetic disease ISO RGD:1604019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620359 Gls2 glutaminase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604019 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 62036 Fdx1 ferredoxin 1 gene DOID:1059 intellectual disability ISO RGD:1347130 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62036 Fdx1 ferredoxin 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1347130 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 62036 Fdx1 ferredoxin 1 gene DOID:4989 pancreatitis IEP D RGD:4145666|PMID:12709512 20101112 RGD mRNA:increased expression:pancreatic acinar cell (rat) 62036 Fdx1 ferredoxin 1 gene DOID:630 genetic disease ISO RGD:1347130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62036 Fdx1 ferredoxin 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347130 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0060180 colitis treatment ISO RGD:734432 D RGD:42724458|PMID:30142311 20210309 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25294219 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IDA D RGD:10412712|PMID:23592516 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:21201312|PMID:25385666 20200303 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0081292 traumatic brain injury IEP D RGD:26884463|PMID:30855558 20200511 RGD protein:increased expression:brain: 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734431 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10247 pleurisy ISO RGD:734432 D RGD:6893408|PMID:14673141 20120828 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:734432 D RGD:10412683|PMID:23771816 20151119 RGD protein:increased expression:brain, nucleus 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:734431 D RGD:6893326|PMID:20064547 20120823 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10412685|PMID:22913737 20151119 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:734431 D RGD:10412689|PMID:19805328 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension ISO RGD:734431 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension treatment IEP D RGD:10412717|PMID:23775684 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10923 sickle cell anemia ISO RGD:734431 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy ISO RGD:734432 D RGD:10412723|PMID:24333359 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy treatment IDA D RGD:10412723|PMID:24333359 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:734431 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:12306 vitiligo ISO RGD:734431 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:12858 Huntington's disease IEP D RGD:10412688|PMID:24008671 20151120 RGD mRNA:increased expression:striatum 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:1324 lung cancer ISO RGD:734431 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Lung cancer 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:13580 cholestasis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20977460 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:734431 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis treatment IEP D RGD:21201303|PMID:31900718 20200303 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:161 keratosis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:734431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:2841 asthma severity ISO RGD:734431 D RGD:6893376|PMID:21514635 20120824 RGD mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24958931 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure treatment IEP D RGD:10412697|PMID:24291173 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23564646 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:10412732|PMID:22737924 20151124 RGD protein:increased expression:lung 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734431 D RGD:5134980|PMID:18556627 20110707 RGD protein:decreased expression:lung 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:11554173 20210601 CTD CTD Direct Evidence: therapeutic PMID:27012417 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:6893397|PMID:18957896 20120827 RGD mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:734432 D RGD:10412690|PMID:22056419 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10412696|PMID:23880501 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10412714|PMID:24466583 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489257 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3602 toxic encephalopathy ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20211941 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:363 uterine cancer ISO RGD:734431 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734431 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis IDA D RGD:6893396|PMID:19138753 20120827 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23570914 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011|PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734431 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22684020|PMID:26482881|PMID:33148531 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:734431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011|PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:399 tuberculosis treatment ISO RGD:734431 D RGD:42722614|PMID:31586142 20210305 RGD DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4195 hyperglycemia ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20086057 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734431 D RGD:7771558|PMID:23276910 20151120 RGD DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734432 D RGD:10412682|PMID:21559389 20151119 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23793039 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis treatment IDA D RGD:10412731|PMID:22732220 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26247513 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011|PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:557 kidney disease ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20605904 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction ISO RGD:734432 D RGD:10412738|PMID:24915518 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction treatment IDA D RGD:10412734|PMID:23290949 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure IEP D RGD:26923905|PMID:29373037 20200511 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:734431 D RGD:11554173 20170613 CTD CTD Direct Evidence: therapeutic PMID:28373008 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:630 genetic disease ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734431 D RGD:21201310|PMID:31546024 20200303 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011|PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:784 chronic kidney disease treatment IEP D RGD:10412711|PMID:23174956 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:83 cataract disease_progression ISO RGD:734431 D RGD:6893326|PMID:20064547 20120823 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:850 lung disease ISO RGD:734432 D RGD:5134977|PMID:19176347 20110707 RGD acute lung injury associated with brain injuries 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:8704 genital herpes ameliorates ISO RGD:734432 D RGD:42722615|PMID:31555293 20210305 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:8947 diabetic retinopathy IDA D RGD:10412733|PMID:23633659 20151124 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:10412730|PMID:24747453 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:10412739|PMID:22350949 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000352 Vascular System Injuries ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19234301 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:10412722|PMID:22304528 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:734431 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734431 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries IEP D RGD:11576302|PMID:25089700 20170106 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries IEP D RGD:5134971|PMID:18787991 20110707 RGD protein:increased expression:lung: 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:734431 D RGD:21201311|PMID:31340446 20200303 RGD DNA:SNP:promoter:rs35652124(human) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:734432 D RGD:21201307|PMID:31906014 20200303 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23341968 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy IEP D RGD:10412728|PMID:23512109 20151124 RGD protein:decreased localization:nucleus 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:734431 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:29353218 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001916 Fetal Death ISO RGD:734431 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:10403073|PMID:22288937 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:21201304|PMID:31952110 20200303 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies IDA D RGD:6893386|PMID:21439372 20120824 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20103708 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10412718|PMID:23064900 20151123 RGD associated with Diabetes Mellitus, Experimental 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002221 Hyperplasia ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19234301 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:26884462|PMID:25171874 20200511 RGD protein:decreased expression:placenta 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:734431 D RGD:26884462|PMID:25171874 20200511 RGD protein:decreased expression:placenta 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:10412716|PMID:23910525 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20124447|PMID:23441843 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002644 Premature Aging treatment ISO RGD:734432 D RGD:10412691|PMID:19443193 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002720 Splenomegaly ISO RGD:734431 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19910389 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002802 Acidoses ISO RGD:734431 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29618784 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002884 Emphysema ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20133372 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734431 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:26619011|PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9003386 Sunburn ISO RGD:734432 D RGD:6893371|PMID:18200051 20120824 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004203 Chromosome Breakage ISO RGD:734431 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27774770 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:734431 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734431 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734431 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24812154 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004634 Cardiac Output, Low ISO RGD:734431 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment IEP D RGD:10412719|PMID:22072621 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734431 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734432 D RGD:21201282|PMID:32105670 20200302 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7244270|PMID:23331247 20151202 RGD protein:increased localization:blood, mononuclear cell, nucleus 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734432 D RGD:10412694|PMID:22869588 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:734432 D RGD:10412720|PMID:24740568 20151123 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005749 Necrosis ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24813929 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005930 Endotoxemia treatment IEP D RGD:42722616|PMID:26646455 20210305 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006205 Animal Disease Models ISO RGD:734431 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27012417|PMID:29255069 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:155882543|PMID:31089916 20230127 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:734431 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27774770 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20605904 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:734432 D RGD:156430337|PMID:36044268 20230228 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:10412713|PMID:23453443 20151123 RGD associated with Diabetes Mellitus, Experimental 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:734432 D RGD:10412721|PMID:23353773 20151123 RGD associated with Diabetes Mellitus, Experimental 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:734431 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:29353218 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:734431 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:20722399 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734431 D RGD:11554173 20190212 CTD CTD Direct Evidence: therapeutic PMID:22491424|PMID:22627062|PMID:24813929|PMID:26958860|PMID:30215777 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734432 D RGD:6893370|PMID:18417483 20120824 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:21201280|PMID:31972209 20200302 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:21201283|PMID:32066295 20200302 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:21201308|PMID:31889292 20200303 RGD induced by methotrexate (CHEBI:44185), treated by ferulic acid (CHEBI:17620) 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734432 D RGD:21201305|PMID:31927046 20200303 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734431 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:35124418 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:734431 D RGD:21201281|PMID:32102936 20200302 RGD associated with obesity; protein:decreased expression:hepatocyte: 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007702 Carcinogenesis ISO RGD:734431 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29228771 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:734431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20530669 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:734432 D RGD:10412738|PMID:24915518 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:734431 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:7240710 20190315 OMIM 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia PMID:24130096|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29018201|PMID:31107239 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:734431 D RGD:42724459|PMID:23729024 20210309 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:734431 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:29018201 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer treatment IEP D RGD:10412740|PMID:22859375 20151124 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:10412692|PMID:23954466 20151120 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9452 fatty liver disease ISO RGD:734431 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28555106 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9452 fatty liver disease ISO RGD:734432 D RGD:6893372|PMID:22367278 20120824 RGD 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9675 pulmonary emphysema ISO RGD:734431 D RGD:5134973|PMID:18559366 20110707 RGD protein:decreased expression:lung: 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734431 D RGD:21201281|PMID:32102936 20200302 RGD protein:decreased expression:hepatocyte : 620360 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734432 D RGD:21201281|PMID:32102936 20200302 RGD protein:decreased expression:liver macrophage: 620361 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:737016 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 620361 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:737016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620362 Galnt7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1347952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620362 Galnt7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347952 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620364 Agps alkylglycerone phosphate synthase gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732011 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 620364 Agps alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:7240710 20130425 OMIM 620364 Agps alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 PMID:11152660|PMID:17576681|PMID:18414213|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7807941|PMID:9536098|PMID:9553082 620364 Agps alkylglycerone phosphate synthase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:732011 D RGD:1300366|PMID:9553082 19990101 RGD 620364 Agps alkylglycerone phosphate synthase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:732011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 620364 Agps alkylglycerone phosphate synthase gene DOID:630 genetic disease ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620364 Agps alkylglycerone phosphate synthase gene DOID:9001586 Experimental Liver Neoplasms IDA D RGD:1598794|PMID:7407223 20061219 RGD 620364 Agps alkylglycerone phosphate synthase gene DOID:9005474 Experimental Sarcoma IDA D RGD:1598794|PMID:7407223 20061219 RGD 620365 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:733451 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 620365 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:4676 uremia treatment IDA D RGD:10042968|PMID:16291838 20150512 RGD 620365 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:630 genetic disease ISO RGD:733451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620365 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma IEP D RGD:10042977|PMID:22318685 20150512 RGD protein:increased expression:liver (rat) 620365 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:733451 D RGD:10042969|PMID:20102719 20150512 RGD protein:increased expression:liver (human) 620365 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620366 Hnrnpf heterogeneous nuclear ribonucleoprotein F gene DOID:630 genetic disease ISO RGD:1349083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620366 Hnrnpf heterogeneous nuclear ribonucleoprotein F gene DOID:9432 renal glycosuria ISS RGD:731709 D RGD:13592920 20200312 MouseDO OMIM:233100 620367 Ran RAN, member RAS oncogene family gene DOID:11446 sciatic neuropathy IDA D RGD:9835000|PMID:18667152 20150319 RGD 620367 Ran RAN, member RAS oncogene family gene DOID:305 carcinoma ISO RGD:1348006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 620367 Ran RAN, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1348006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 620367 Ran RAN, member RAS oncogene family gene DOID:8398 osteoarthritis ISO RGD:1348006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 620367 Ran RAN, member RAS oncogene family gene DOID:9000058 Keloid ISO RGD:1348006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 620367 Ran RAN, member RAS oncogene family gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 620367 Ran RAN, member RAS oncogene family gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348006 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 620367 Ran RAN, member RAS oncogene family gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348006 D RGD:9835390|PMID:22114719 20150323 RGD human gene in a mouse model 620369 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:731710 D RGD:10054273|PMID:24381081 20150803 RGD protein:increased expression:colonic epithelium (human) 620369 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:0080490 mucolipidosis type IV ISO RGD:731710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 620369 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:127 leiomyoma ISO RGD:731710 D RGD:2301090|PMID:18566572 20150803 RGD mRNA:increased expression:uterine myometrium (human) 620369 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:12849 autistic disorder ISO RGD:731710 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620369 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:2843 long QT syndrome ISO RGD:731710 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620369 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:630 genetic disease ISO RGD:731710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:10652 Alzheimer's disease ISO RGD:730952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18503570 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:11832 visual epilepsy IEP D RGD:10395306|PMID:23744421 20150901 RGD 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:3525 middle cerebral artery infarction IEP D RGD:10395314|PMID:22645329 20150901 RGD 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:480 movement disease ISO RGD:730952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:630 genetic disease ISO RGD:730952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:9001733 Tinnitus IEP D RGD:8655535|PMID:18524887 20140514 RGD mRNA:decreased expression:auditory cortex: 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:8655559|PMID:17275194 20140515 RGD 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:9004538 Hearing Loss IEP D RGD:8655535|PMID:18524887 20140514 RGD mRNA:decreased expression:auditory cortex: 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:9004538 Hearing Loss treatment ISO RGD:730952 D RGD:8655538|PMID:18607918 20140514 RGD 62037 Arc activity-regulated cytoskeleton-associated protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18311559 620371 Rax retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:7240710 20130221 OMIM 620371 Rax retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19158959|PMID:19935664|PMID:20494911|PMID:21778431|PMID:22736936|PMID:24033328|PMID:25741868|PMID:26686525|PMID:28492532|PMID:30811539 620371 Rax retina and anterior neural fold homeobox gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606797 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome 620371 Rax retina and anterior neural fold homeobox gene DOID:0111988 immunodeficiency 12 ISO RGD:1606797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 620371 Rax retina and anterior neural fold homeobox gene DOID:1909 melanoma ISO RGD:1606797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 620371 Rax retina and anterior neural fold homeobox gene DOID:630 genetic disease ISO RGD:1606797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620371 Rax retina and anterior neural fold homeobox gene DOID:9002049 Anophthalmia ISO RGD:1606797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 620371 Rax retina and anterior neural fold homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606797 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0060041 autism spectrum disorder ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:7240710 20190315 OMIM 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 PMID:16199547|PMID:17576681|PMID:22678713|PMID:23708187|PMID:25356899|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28166811|PMID:28283832|PMID:28492532|PMID:28815871|PMID:28944577|PMID:29170628|PMID:30866059|PMID:32319732|PMID:32488064|PMID:9536098 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731482 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1059 intellectual disability ISO RGD:731482 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1540 parathyroid carcinoma ISO RGD:731482 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1826 epilepsy ISO RGD:731482 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1826 epilepsy ISO RGD:731482 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326635|PMID:25741868|PMID:28815871 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:630 genetic disease ISO RGD:731482 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26845106|PMID:28393272|PMID:28492532 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9001793 Generalized Epilepsy ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:22678713|PMID:25326635|PMID:25741868|PMID:28283832|PMID:28492532|PMID:28815871 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731482 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:28492532 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:731482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731482 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620372 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9256 colorectal cancer ISO RGD:731482 D RGD:9999439|PMID:21194727 20150420 RGD protein:decreased expression:colonic epithelium, nucleus (human) 620373 Fbxo32 F-box protein 32 gene DOID:0060224 atrial fibrillation ISO RGD:734419 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 620373 Fbxo32 F-box protein 32 gene DOID:14557 primary pulmonary hypertension ISO RGD:734419 D RGD:329812002|PMID:23972212 20230519 RGD mRNA:increased expression:vastus lateralis 620373 Fbxo32 F-box protein 32 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734419 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 620373 Fbxo32 F-box protein 32 gene DOID:630 genetic disease ISO RGD:734419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620373 Fbxo32 F-box protein 32 gene DOID:767 muscular atrophy IDA D RGD:633893|PMID:11679633 19990101 RGD 620373 Fbxo32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:734419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 620374 Pard3 par-3 family cell polarity regulator gene DOID:0060041 autism spectrum disorder ISO RGD:731593 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620374 Pard3 par-3 family cell polarity regulator gene DOID:0080074 neural tube defect ISO RGD:731593 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:27925688 620374 Pard3 par-3 family cell polarity regulator gene DOID:10283 prostate cancer ISO RGD:731593 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620374 Pard3 par-3 family cell polarity regulator gene DOID:5426 primary ovarian insufficiency ISO RGD:731593 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 620374 Pard3 par-3 family cell polarity regulator gene DOID:630 genetic disease ISO RGD:731593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620374 Pard3 par-3 family cell polarity regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:731593 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 620375 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:0050553 JMP syndrome ISO RGD:731722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620375 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:734785|PMID:11717424 20150205 RGD 620375 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISS RGD:735972 D RGD:13592920 20180518 MouseDO 620375 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:630 genetic disease ISO RGD:731722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620376 Tecr trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:7240710 20140911 OMIM 620376 Tecr trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 PMID:11590547|PMID:21212097|PMID:22981120|PMID:24220030|PMID:25741868 620376 Tecr trans-2,3-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 62038 Dctn1 dynactin subunit 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 62038 Dctn1 dynactin subunit 1 gene DOID:0050890 synucleinopathy IEP D RGD:11049591|PMID:19295143 20170726 RGD 62038 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:7240710 20130221 OMIM 62038 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29089398|PMID:29339765|PMID:29525180|PMID:29738522|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:33369814|PMID:33601107|PMID:33973882|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:5534575|PMID:20702129 20111122 RGD 62038 Dctn1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:5535748|PMID:19136952 20111122 RGD 62038 Dctn1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:7240710 20130221 OMIM 62038 Dctn1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:20437543|PMID:20945553|PMID:22777741|PMID:23143281|PMID:23628468|PMID:24343258|PMID:24484619|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882 62038 Dctn1 dynactin subunit 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 62038 Dctn1 dynactin subunit 1 gene DOID:0080855 Parkinsonism ISO RGD:1603060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 62038 Dctn1 dynactin subunit 1 gene DOID:0080855 Parkinsonism ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:28492532|PMID:28518168|PMID:29525180|PMID:32461654 62038 Dctn1 dynactin subunit 1 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:1603060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor PMID:28492532 62038 Dctn1 dynactin subunit 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603060 D RGD:7240710 20130221 OMIM 62038 Dctn1 dynactin subunit 1 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1603060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15326253|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24604904|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 62038 Dctn1 dynactin subunit 1 gene DOID:1289 neurodegenerative disease ISO RGD:62330 D RGD:5539209|PMID:18364389 20111122 RGD 62038 Dctn1 dynactin subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15326253|PMID:16240349|PMID:17824900|PMID:18812314|PMID:19506225|PMID:22777741|PMID:23143281|PMID:25025039|PMID:25382069|PMID:25741868|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28717666 62038 Dctn1 dynactin subunit 1 gene DOID:3324 mood disorder ISO RGD:1603060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 62038 Dctn1 dynactin subunit 1 gene DOID:543 dystonia ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:25741868|PMID:28492532|PMID:30682498 62038 Dctn1 dynactin subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 62038 Dctn1 dynactin subunit 1 gene DOID:630 genetic disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326253|PMID:16199547|PMID:16240349|PMID:17576681|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:29525180|PMID:30270202|PMID:32023010|PMID:32028661|PMID:32397312|PMID:32461654|PMID:33369814|PMID:9536098 62038 Dctn1 dynactin subunit 1 gene DOID:870 neuropathy ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 62038 Dctn1 dynactin subunit 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 62038 Dctn1 dynactin subunit 1 gene DOID:9003671 Hypoventilation ISO RGD:1603060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 62038 Dctn1 dynactin subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1603060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension IEP D RGD:1580741|PMID:15311100 19990101 RGD 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:733001 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:1826 epilepsy ISO RGD:733001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733001 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620380 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:630 genetic disease ISO RGD:733001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:5688745|PMID:15621212 20211118 RGD 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:1485 cystic fibrosis ISO RGD:1349768 D RGD:5135040|PMID:15115915 20211118 RGD 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1349768 D RGD:5490267|PMID:10680782 20211118 RGD DNA:polymorphism:exon: 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:2596 larynx cancer ISO RGD:1349768 D RGD:5135043|PMID:10067818 20211118 RGD 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:5135038|PMID:17550934 20211118 RGD 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:5135039|PMID:11470996 20211118 RGD DNA:polymorphism 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:3070 high grade glioma ISO RGD:1349768 D RGD:5688743|PMID:16598069 20211118 RGD DNA: deletion: intron 6 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:3347 osteosarcoma ISO RGD:1349768 D RGD:5135042|PMID:20577141 20211118 RGD 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:3565 meningioma ISO RGD:1349768 D RGD:5688743|PMID:16598069 20211118 RGD DNA: deletion: intron 6 620381 Gstm3 glutathione S-transferase mu 3 gene DOID:9675 pulmonary emphysema ISO RGD:1349768 D RGD:5135041|PMID:19723343 20211118 RGD 620382 Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 620382 Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:630 genetic disease ISO RGD:1603316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620382 Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:905 Zellweger syndrome ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 620383 Calu calumenin gene DOID:0060224 atrial fibrillation ISO RGD:733017 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 620383 Calu calumenin gene DOID:0080199 colorectal carcinoma ISO RGD:733017 D RGD:2316232|PMID:18776587 20100201 RGD mRNA:increased expression:colon (human) 620383 Calu calumenin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733017 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620383 Calu calumenin gene DOID:630 genetic disease ISO RGD:733017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620383 Calu calumenin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733017 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 620383 Calu calumenin gene DOID:9008582 Developmental Disease ISO RGD:733017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620385 Cabp1 calcium binding protein 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:14399955|PMID:12941472 20190507 RGD protein:altered expression:brain 620385 Cabp1 calcium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:731282 D RGD:14399958|PMID:17719205 20190507 RGD protein:altered expression:brain: 620385 Cabp1 calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:731282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620385 Cabp1 calcium binding protein 1 gene DOID:9002607 Serotonin Syndrome IEP D RGD:14399959|PMID:19224364 20190507 RGD protein:altered expression:postsynaptic density 620385 Cabp1 calcium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7241599|PMID:21138988 20190508 RGD protein:increased expression:liver 620386 Prb3 proline-rich protein BstNI subfamily 3 gene DOID:630 genetic disease ISO RGD:1345078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:11372 megacolon ISO RGD:1351666 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:3454 brain infarction IMP D RGD:2316742|PMID:12834903 20100219 RGD associated with Reperfusion Injury 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:5154 borna disease IEP D RGD:2316738|PMID:18057239 20100219 RGD mRNA:decreased expression:hippocampus 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:5419 schizophrenia ISO RGD:1351666 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:630 genetic disease ISO RGD:1351666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:9002170 Experimental Neoplasms ISO RGD:1351666 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:33044785 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:9004994 Embryo Loss ISO RGD:1351666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15591342 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351666 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25628927|PMID:27003318 620387 Parg poly (ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment IMP D RGD:13514040|PMID:15791006 20180321 RGD 620388 Efna1 ephrin A1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 620388 Efna1 ephrin A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620388 Efna1 ephrin A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620388 Efna1 ephrin A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:730990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620388 Efna1 ephrin A1 gene DOID:1540 parathyroid carcinoma ISO RGD:730990 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620388 Efna1 ephrin A1 gene DOID:5812 MHC class II deficiency ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620388 Efna1 ephrin A1 gene DOID:630 genetic disease ISO RGD:730990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620388 Efna1 ephrin A1 gene DOID:9008939 Breast Neoplasms ISO RGD:730990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 620388 Efna1 ephrin A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730990 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620389 Efna2 ephrin A2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 620389 Efna2 ephrin A2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620389 Efna2 ephrin A2 gene DOID:630 genetic disease ISO RGD:1314277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62039 Plk3 polo-like kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 62039 Plk3 polo-like kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1350781 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 62039 Plk3 polo-like kinase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350781 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 62039 Plk3 polo-like kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 62039 Plk3 polo-like kinase 3 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350781 D RGD:2299941|PMID:14970859 20080821 RGD protein:increased expression:ovary 62039 Plk3 polo-like kinase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1350781 D RGD:2299942|PMID:15785925 20080821 RGD protein:increased expression:breast 62039 Plk3 polo-like kinase 3 gene DOID:630 genetic disease ISO RGD:1350781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620390 Efna3 ephrin A3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 620390 Efna3 ephrin A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620390 Efna3 ephrin A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620390 Efna3 ephrin A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620390 Efna3 ephrin A3 gene DOID:1540 parathyroid carcinoma ISO RGD:1352863 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620390 Efna3 ephrin A3 gene DOID:5812 MHC class II deficiency ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620390 Efna3 ephrin A3 gene DOID:630 genetic disease ISO RGD:1352863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620390 Efna3 ephrin A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352863 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620391 Efna5 ephrin A5 gene DOID:0060668 anencephaly ISS RGD:732052 D RGD:13592920 20180518 MouseDO OMIM:206500 620391 Efna5 ephrin A5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620391 Efna5 ephrin A5 gene DOID:0080600 COVID-19 ISO RGD:1350398 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620391 Efna5 ephrin A5 gene DOID:630 genetic disease ISO RGD:1350398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620391 Efna5 ephrin A5 gene DOID:9004009 Reperfusion Injury ISO RGD:1350398 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 620391 Efna5 ephrin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350398 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620391 Efna5 ephrin A5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:731545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20232449|PMID:23559409|PMID:28492532 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:12246530 D RGD:9068941 20220825 OMIA Pyruvate dehydrogenase deficiency PMID:15049576|PMID:17095275|PMID:516334|PMID:552740|PMID:7361423 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:731545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731545 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:29335542 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:7240710 20130221 OMIM 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:15855260|PMID:19184109|PMID:25741868|PMID:28492532|PMID:31392110 620393 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9970 obesity ISO RGD:731545 D RGD:1642637|PMID:15897476 20071004 RGD 620394 Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:5419 schizophrenia ISO RGD:1603638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 620394 Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:630 genetic disease ISO RGD:1603638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620394 Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1603638 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:11830 myopia ISO RGD:1344062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1344062 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1344062 D RGD:10003135|PMID:23200899 20150504 RGD protein:decreased expression:temporal neocortex (human) 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:630 genetic disease ISO RGD:1344062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9002189 High Myopia ISO RGD:1344062 D RGD:10003136|PMID:24150758 20150504 RGD DNA:snp:intron:IVS1+7218 (human) 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10003129|PMID:19002579 20150504 RGD protein:decreased expression:brain, membrane (rat) 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9007090 Experimental Seizures IEP D RGD:10003135|PMID:23200899 20150504 RGD protein:decreased expression:dentate gyrus, hippocampus CA1, cerebral cortex (rat) 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1344062 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21115823 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9008675 Dyskinesias susceptibility ISO RGD:1551710 D RGD:10003138|PMID:21115823 20150504 RGD 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9256 colorectal cancer ISO RGD:1344062 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620395 Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 gene DOID:9835 refractive error ISO RGD:1344062 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835236 620396 Kl Klotho gene DOID:0050459 hyperphosphatemia ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 620396 Kl Klotho gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:732783 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 620396 Kl Klotho gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISS RGD:732784 D RGD:13592920 20190321 MouseDO OMIM:211900 620396 Kl Klotho gene DOID:10003 sensorineural hearing loss ISO RGD:732784 D RGD:10403058|PMID:21167925 20151105 RGD 620396 Kl Klotho gene DOID:10584 retinitis pigmentosa IEP D RGD:10403060|PMID:23796581 20151106 RGD protein:increased expression:retina,photoreceptor,nucleus: 620396 Kl Klotho gene DOID:10584 retinitis pigmentosa ISO RGD:732784 D RGD:10403060|PMID:23796581 20151106 RGD protein:increased expression:retina,photoreceptor,nucleus: 620396 Kl Klotho gene DOID:10652 Alzheimer's disease treatment ISO RGD:732784 D RGD:10403049|PMID:23973442 20151105 RGD mRNA,protein:decreased expression:cerebral choroid,serum: 620396 Kl Klotho gene DOID:1074 kidney failure IDA D RGD:1581732|PMID:10892340 20061019 RGD 620396 Kl Klotho gene DOID:10763 hypertension IDA D RGD:1581732|PMID:10892340 20061019 RGD 620396 Kl Klotho gene DOID:10763 hypertension treatment IEP D RGD:10403063|PMID:21051829 20151106 RGD mRNA,protein:decreased expression:kidney: 620396 Kl Klotho gene DOID:10763 hypertension treatment ISO RGD:732784 D RGD:10403062|PMID:23225045 20151106 RGD 620396 Kl Klotho gene DOID:11476 osteoporosis ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 620396 Kl Klotho gene DOID:11476 osteoporosis ISO RGD:732784 D RGD:10403047|PMID:9363890 20151105 RGD 620396 Kl Klotho gene DOID:1168 familial hyperlipidemia IDA D RGD:1581732|PMID:10892340 20061019 RGD 620396 Kl Klotho gene DOID:12466 secondary hyperparathyroidism IEP D RGD:10403078|PMID:20631679 20151109 RGD associated with Uremia;mRNA,protein:increased expression:parathyroid gland: 620396 Kl Klotho gene DOID:12678 hypercalcemia ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 620396 Kl Klotho gene DOID:13938 amenorrhea ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:32870266 620396 Kl Klotho gene DOID:182 calcinosis ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 620396 Kl Klotho gene DOID:1936 atherosclerosis ISO RGD:732784 D RGD:10403056|PMID:11027545 20151105 RGD 620396 Kl Klotho gene DOID:2247 spondylosis susceptibility ISO RGD:732783 D RGD:10403053|PMID:12110410 20151105 RGD 620396 Kl Klotho gene DOID:2277 gonadal disease ISO RGD:732784 D RGD:10403047|PMID:9363890 20151105 RGD 620396 Kl Klotho gene DOID:2349 arteriosclerosis ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 620396 Kl Klotho gene DOID:2349 arteriosclerosis ISO RGD:732784 D RGD:10403047|PMID:9363890 20151105 RGD 620396 Kl Klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12669274 620396 Kl Klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:1581721|PMID:16979405 20061019 RGD 620396 Kl Klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:1581723|PMID:16579981 20061019 RGD DNA:SNP:promoter: -G395>A (human) 620396 Kl Klotho gene DOID:37 skin disease ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 620396 Kl Klotho gene DOID:4372 intracranial embolism susceptibility ISO RGD:732783 D RGD:10403059|PMID:16973281 20151105 RGD DNA:polymorphism:promoter:-395G>A(human) 620396 Kl Klotho gene DOID:5223 infertility ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 620396 Kl Klotho gene DOID:557 kidney disease ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 620396 Kl Klotho gene DOID:630 genetic disease ISO RGD:732783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 620396 Kl Klotho gene DOID:783 end stage renal disease IEP D RGD:10403067|PMID:9731228 20151106 RGD mRNA:decreased expression:kidney: 620396 Kl Klotho gene DOID:783 end stage renal disease ISO RGD:732783 D RGD:10403042|PMID:11162628 20151105 RGD mRNA,protein:decreased expression:kidney: 620396 Kl Klotho gene DOID:784 chronic kidney disease IEP D RGD:70544|PMID:11967236 20151106 RGD mRNA,protein:decreased expression:renal tubule, epithelial cell: 620396 Kl Klotho gene DOID:784 chronic kidney disease ISO RGD:732784 D RGD:10403077|PMID:21115613 20151109 RGD protein:decreased expression:urine,plasma,kidney: 620396 Kl Klotho gene DOID:784 chronic kidney disease disease_progression ISO RGD:732783 D RGD:10403077|PMID:21115613 20151109 RGD protein:decreased expression:urine: 620396 Kl Klotho gene DOID:784 chronic kidney disease treatment ISO RGD:732784 D RGD:70544|PMID:11967236 20151106 RGD 620396 Kl Klotho gene DOID:8927 learning disability ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25309793 620396 Kl Klotho gene DOID:9000099 Experimental Colitis ISO RGD:732784 D RGD:10403055|PMID:20004202 20151105 RGD mRNA:decreased expression:kidney: 620396 Kl Klotho gene DOID:9001035 Hypercalciuria, Childhood Idiopathic ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 620396 Kl Klotho gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10403079|PMID:24136780 20151109 RGD protein:decreased expression:kidney: 620396 Kl Klotho gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732783 D RGD:10403041|PMID:18465812 20151105 RGD DNA:SNPs:promoter,exon:395G>A,2998C>T(human) 620396 Kl Klotho gene DOID:9002644 Premature Aging ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9363890|PMID:25550330 620396 Kl Klotho gene DOID:9002644 Premature Aging ISO RGD:732784 D RGD:10403047|PMID:9363890 20151105 RGD 620396 Kl Klotho gene DOID:9002884 Emphysema ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 620396 Kl Klotho gene DOID:9002884 Emphysema ISO RGD:732784 D RGD:10403047|PMID:9363890 20151105 RGD 620396 Kl Klotho gene DOID:9003846 Sinoatrial Block ISO RGD:732784 D RGD:1581730|PMID:15037532 20061019 RGD 620396 Kl Klotho gene DOID:9003936 Cardiomegaly treatment ISO RGD:732784 D RGD:10403062|PMID:23225045 20151106 RGD 620396 Kl Klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:7240710 20190315 OMIM 620396 Kl Klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 PMID:17710231|PMID:25741868|PMID:28492532|PMID:29389098|PMID:32870266 620396 Kl Klotho gene DOID:9006205 Animal Disease Models ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25550330 620396 Kl Klotho gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:10403064|PMID:16204278 20151106 RGD mRNA,protein:decreased expression:renal tubule: 620396 Kl Klotho gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:732784 D RGD:10403064|PMID:16204278 20151106 RGD 620396 Kl Klotho gene DOID:9006332 Vascular Calcification ISO RGD:732784 D RGD:10403077|PMID:21115613 20151109 RGD 620396 Kl Klotho gene DOID:9006646 Metabolic Syndrome IEP D RGD:10403056|PMID:11027545 20151105 RGD mRNA:decreased expression:kidney: 620396 Kl Klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:732784 D RGD:10403056|PMID:11027545 20151105 RGD 620396 Kl Klotho gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 620396 Kl Klotho gene DOID:9007096 Stroke ISO RGD:732783 D RGD:1581727|PMID:15677572 20061019 RGD 620396 Kl Klotho gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:732784 D RGD:10403048|PMID:23364432 20151105 RGD 620396 Kl Klotho gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732783 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:17710231|PMID:25741868|PMID:29389098 620396 Kl Klotho gene DOID:9008023 Memory Disorders ISO RGD:732783 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25309793|PMID:25550330 620396 Kl Klotho gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10044235|PMID:23967103 20151109 RGD mRNA:decreased expression:kidney: 620396 Kl Klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:732783 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 620396 Kl Klotho gene DOID:9675 pulmonary emphysema ISS RGD:732784 D RGD:13592920 20180518 MouseDO OMIM:130700 620397 Cyth1 cytohesin 1 gene DOID:0060224 atrial fibrillation ISO RGD:736054 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 620397 Cyth1 cytohesin 1 gene DOID:630 genetic disease ISO RGD:736054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620398 Cyth2 cytohesin 2 gene DOID:630 genetic disease ISO RGD:737071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620399 Cyth3 cytohesin 3 gene DOID:630 genetic disease ISO RGD:1348510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62040 Hpx hemopexin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737150 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 62040 Hpx hemopexin gene DOID:3021 acute kidney failure ISO RGD:737150 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 62040 Hpx hemopexin gene DOID:417 autoimmune disease ISO RGD:737150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18641331 62040 Hpx hemopexin gene DOID:630 genetic disease ISO RGD:737150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62040 Hpx hemopexin gene DOID:682 compartment syndrome ISO RGD:737150 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14500188 62040 Hpx hemopexin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737150 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 62040 Hpx hemopexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 62040 Hpx hemopexin gene DOID:9352 type 2 diabetes mellitus ISO RGD:737150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16506275 620400 Mlxipl MLX interacting protein-like gene DOID:0060041 autism spectrum disorder ISO RGD:1343873 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 620400 Mlxipl MLX interacting protein-like gene DOID:10923 sickle cell anemia ISO RGD:1343873 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 620400 Mlxipl MLX interacting protein-like gene DOID:12849 autistic disorder ISO RGD:1343873 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620400 Mlxipl MLX interacting protein-like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1343873 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620400 Mlxipl MLX interacting protein-like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868|PMID:28492532 620400 Mlxipl MLX interacting protein-like gene DOID:2661 myoepithelioma ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 620400 Mlxipl MLX interacting protein-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343873 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620400 Mlxipl MLX interacting protein-like gene DOID:5419 schizophrenia ISO RGD:1343873 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620400 Mlxipl MLX interacting protein-like gene DOID:630 genetic disease ISO RGD:1343873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620400 Mlxipl MLX interacting protein-like gene DOID:684 hepatocellular carcinoma ISO RGD:1343873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 620400 Mlxipl MLX interacting protein-like gene DOID:783 end stage renal disease ISO RGD:1343873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 620400 Mlxipl MLX interacting protein-like gene DOID:8445 intestinal volvulus ISO RGD:1343873 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 620400 Mlxipl MLX interacting protein-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343873 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620400 Mlxipl MLX interacting protein-like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343873 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620400 Mlxipl MLX interacting protein-like gene DOID:9778 irritable bowel syndrome ISS RGD:1621550 D RGD:13592920 20190523 MouseDO 620401 Bdkrb1 bradykinin receptor B1 gene DOID:0050855 renal fibrosis ISO RGD:731358 D RGD:7241554|PMID:18809736 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:0070355 overactive bladder syndrome IMP D RGD:1625040|PMID:15576455 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:10247 pleurisy IMP D RGD:5129218|PMID:11853231 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:10763 hypertension IEP D RGD:704378|PMID:12025958 19990101 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:10763 hypertension IMP D RGD:5129214|PMID:17988733 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:730874 D RGD:1625732|PMID:15643125 20070628 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:10952 nephritis ISO RGD:731358 D RGD:7241554|PMID:18809736 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:11446 sciatic neuropathy IMP D RGD:5129227|PMID:18182225 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:11713 diabetic angiopathy IMP D RGD:7241570|PMID:15878326 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731358 D RGD:7175321|PMID:21412216 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:1826 epilepsy IDA D RGD:704381|PMID:12746865 19990101 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:2224 essential thrombocythemia ISO RGD:730874 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 620401 Bdkrb1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:730874|RGD:731358 D RGD:7241551|PMID:20448019 20130308 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:3328 temporal lobe epilepsy ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15196965 620401 Bdkrb1 bradykinin receptor B1 gene DOID:3770 pulmonary fibrosis ISO RGD:730874 D RGD:5129229|PMID:20451601 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:4483 rhinitis ISO RGD:730874 D RGD:5129220|PMID:12165532 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:4971 myelofibrosis ISO RGD:730874 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 620401 Bdkrb1 bradykinin receptor B1 gene DOID:5844 myocardial infarction IEP D RGD:704379|PMID:12489796 19990101 RGD mRNA:increased expression:heart 620401 Bdkrb1 bradykinin receptor B1 gene DOID:630 genetic disease ISO RGD:730874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620401 Bdkrb1 bradykinin receptor B1 gene DOID:783 end stage renal disease ISO RGD:730874 D RGD:7241582|PMID:10604543 20130312 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:783 end stage renal disease no_association ISO RGD:730874 D RGD:7241561|PMID:10809796 20130311 RGD DNA: SNP: G(-699)C 620401 Bdkrb1 bradykinin receptor B1 gene DOID:783 end stage renal disease resistance ISO RGD:730874 D RGD:7241560|PMID:9555662 20130311 RGD DNA: SNP: G-699-->C 620401 Bdkrb1 bradykinin receptor B1 gene DOID:8947 diabetic retinopathy treatment IEP D RGD:2313334|PMID:18311190 20090917 RGD associated with Diabetes Mellitus, Experimental 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9000197 Edema severity IMP D RGD:628496|PMID:12411434 20070629 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9000352 Vascular System Injuries ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9000641 Pain IMP D RGD:5129214|PMID:17988733 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9000784 Fibrosis IMP D RGD:1625759|PMID:15253105 20070628 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia IDA D RGD:1579989|PMID:12927641 19990101 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:731358 D RGD:7241581|PMID:12637034 20130312 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9002457 Experimental Arthritis IMP D RGD:1625760|PMID:15001555 20180404 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9002661 Diabetes Complications ISO RGD:731358 D RGD:7241550|PMID:20479236 20150729 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9002720 Splenomegaly ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20096676 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:704379|PMID:12489796 20101220 RGD mRNA:increased expression:heart 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9005372 Inflammation ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:704380|PMID:12522068 19990101 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:704379|PMID:12489796 20101220 RGD mRNA:increased expression:heart 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21430409 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731358 D RGD:7241569|PMID:20092893 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731358 D RGD:7241559|PMID:18725957 20130311 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9007692 Insulin Resistance IEP D RGD:5129214|PMID:17988733 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9007692 Insulin Resistance IMP D RGD:5129217|PMID:17618300 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9008887 Microvascular Angina ISO RGD:730874 D RGD:4890450|PMID:17852785 20110329 RGD mRNA:increased expression:blood, mononuclear cell 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9119 acute myeloid leukemia ISO RGD:730874 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9743 diabetic neuropathy IMP D RGD:5129222|PMID:20587056 20110329 RGD 620401 Bdkrb1 bradykinin receptor B1 gene DOID:9970 obesity ISO RGD:731358 D RGD:1625733|PMID:17184856 20070628 RGD 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:0080600 COVID-19 ISO RGD:733223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:0111940 immunodeficiency 42 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:1540 parathyroid carcinoma ISO RGD:733223 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:1793 pancreatic cancer ISO RGD:733223 D RGD:2325247|PMID:17465204 20100527 RGD mRNA:increased expression:pancreas, epithelial cell 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:5812 MHC class II deficiency ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:630 genetic disease ISO RGD:733223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:8398 osteoarthritis ISO RGD:733224 D RGD:1559176|PMID:15818704 19990101 RGD 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:9004756 Brain Hypoxia IEP D RGD:13703065|PMID:22230263 20180801 RGD 620402 Adam15 ADAM metallopeptidase domain 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733223 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620403 Ccs copper chaperone for superoxide dismutase gene DOID:1059 intellectual disability ISO RGD:733606 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620403 Ccs copper chaperone for superoxide dismutase gene DOID:1289 neurodegenerative disease ISO RGD:733606 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:22243965|PMID:22508683 620403 Ccs copper chaperone for superoxide dismutase gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:733606 D RGD:13524551|PMID:26826269 20180419 RGD 620403 Ccs copper chaperone for superoxide dismutase gene DOID:5113 nutritional deficiency disease ISO RGD:733606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 620403 Ccs copper chaperone for superoxide dismutase gene DOID:630 genetic disease ISO RGD:733606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620403 Ccs copper chaperone for superoxide dismutase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733606 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620403 Ccs copper chaperone for superoxide dismutase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620403 Ccs copper chaperone for superoxide dismutase gene DOID:9008510 Chronic Hepatitis ISO RGD:733606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:0050855 renal fibrosis ISO RGD:731400 D RGD:13703100|PMID:22015440 20180801 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:0060180 colitis ISO RGD:731400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731400 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease IEP D RGD:13703037|PMID:24792732 20180726 RGD protein:decreased expression:cerebral cortex, hippocampus 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease onset ISO RGD:731400 D RGD:13782143|PMID:29988083 20180822 RGD DNA:missense mutation: :p.R215I (rs142946965) (human) 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:14004 thoracic aortic aneurysm IEP D RGD:5129489|PMID:20621845 20110331 RGD protein:increased expression:aorta 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:3310 atopic dermatitis ISS RGD:731401 D RGD:13592920 20181122 MouseDO OMIM:603165 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:5199 ureteral obstruction ISO RGD:731401 D RGD:13703030|PMID:24103556 20180726 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:6000 congestive heart failure treatment IEP D RGD:13703064|PMID:22628376 20180731 RGD associated with pulmonary hypertension 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:630 genetic disease ISO RGD:731400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:632022|PMID:11884025 20181102 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9000113 Pneumococcal Meningitis treatment IMP D RGD:13703038|PMID:24491581 20180726 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:7240710 20170503 OMIM 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25640679|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:32447396|PMID:9536098 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9002457 Experimental Arthritis IEP D RGD:13703039|PMID:23897050 20180726 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:1559178|PMID:15878627 19990101 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:13703040|PMID:23850346 20180726 RGD associated with hypertension 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9004756 Brain Hypoxia IEP D RGD:13703065|PMID:22230263 20180801 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:13703100|PMID:22015440 20180801 RGD 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9008110 Blister ISO RGD:731400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19167455 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:2312470|PMID:19633828 20090915 RGD protein:increased activity:skeletal muscle tissue 620404 Adam17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:2313250|PMID:19581416 20090915 RGD protein:increased activity:artery smooth muscle 620405 Adam18 ADAM metallopeptidase domain 18 gene DOID:630 genetic disease ISO RGD:1350533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620407 Ajuba ajuba LIM protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 620407 Ajuba ajuba LIM protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1343876 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 620407 Ajuba ajuba LIM protein gene DOID:630 genetic disease ISO RGD:1343876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620407 Ajuba ajuba LIM protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 620407 Ajuba ajuba LIM protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 62041 Syt10 synaptotagmin 10 gene DOID:11832 visual epilepsy IEP D RGD:61761|PMID:9122248 20131030 RGD 62041 Syt10 synaptotagmin 10 gene DOID:630 genetic disease ISO RGD:1346254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620410 Ltb4r leukotriene B4 receptor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 620410 Ltb4r leukotriene B4 receptor gene DOID:10754 otitis media ISO RGD:8702169 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 620410 Ltb4r leukotriene B4 receptor gene DOID:11664 nephrosclerosis ISO RGD:1550123 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 620410 Ltb4r leukotriene B4 receptor gene DOID:2349 arteriosclerosis ISO RGD:1550123 D RGD:1581956|PMID:16043658 20061031 RGD 620410 Ltb4r leukotriene B4 receptor gene DOID:3407 carotid artery disease IDA D RGD:1581954|PMID:16293697 20061031 RGD 620410 Ltb4r leukotriene B4 receptor gene DOID:409 liver disease ISO RGD:1348020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620410 Ltb4r leukotriene B4 receptor gene DOID:630 genetic disease ISO RGD:1348020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620410 Ltb4r leukotriene B4 receptor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 620410 Ltb4r leukotriene B4 receptor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348020 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620410 Ltb4r leukotriene B4 receptor gene DOID:9005372 Inflammation ISO RGD:1348020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 620410 Ltb4r leukotriene B4 receptor gene DOID:9007278 Anaphylaxis ISO RGD:1348020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 620410 Ltb4r leukotriene B4 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550123 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28487374 620410 Ltb4r leukotriene B4 receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:1348020 D RGD:40903061|PMID:18571838 20210107 RGD 620411 Mb myoglobin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 620411 Mb myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:27095965|PMID:32125452 20200519 RGD protein:increased expression:serum (human) 620411 Mb myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:32698682|PMID:32406594 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) 620411 Mb myoglobin gene DOID:3021 acute kidney failure IDA D RGD:7244259|PMID:9822635 20130530 RGD 620411 Mb myoglobin gene DOID:3021 acute kidney failure ISO RGD:1354197 D RGD:7244253|PMID:23497406 20130529 RGD protein: increased expression: serum 620411 Mb myoglobin gene DOID:630 genetic disease ISO RGD:1354197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620411 Mb myoglobin gene DOID:9000528 Coronary Disease severity ISO RGD:1354197 D RGD:1582388|PMID:15976963 20061107 RGD 620411 Mb myoglobin gene DOID:9000921 Crush Syndrome IDA D RGD:1582428|PMID:12558149 20061108 RGD 620411 Mb myoglobin gene DOID:9002669 Hypoxia IDA D RGD:1582429|PMID:12530625 20061108 RGD 620411 Mb myoglobin gene DOID:9004009 Reperfusion Injury ISO RGD:1354197 D RGD:1582427|PMID:12788661 20061108 RGD 620411 Mb myoglobin gene DOID:9007102 Myocardial Ischemia IDA D RGD:1582426|PMID:12935692 20061108 RGD 620411 Mb myoglobin gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1354197 D RGD:1582393|PMID:15762290 20061107 RGD 620411 Mb myoglobin gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1582431|PMID:11972171 20061108 RGD 620411 Mb myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552831 D RGD:1582385|PMID:15132981 20061107 RGD 620411 Mb myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:7240710 20230505 OMIM 620411 Mb myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, sarcoplasmic body PMID:25741868|PMID:30918256|PMID:34679218|PMID:35527200|PMID:6251174 620412 Jup junction plakoglobin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732396 D RGD:11352402|PMID:23178689 20180510 RGD protein:altered expression:ventricle 620412 Jup junction plakoglobin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:24884844|PMID:25741868|PMID:28098346|PMID:28492532|PMID:33673806 620412 Jup junction plakoglobin gene DOID:0050700 cardiomyopathy ISO RGD:732396 D RGD:1600286|PMID:10902626 20070306 RGD Naxos disease, OMIM:601214 620412 Jup junction plakoglobin gene DOID:0050700 cardiomyopathy ISO RGD:732396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16467215|PMID:19863551|PMID:20525856|PMID:20864495|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25363768|PMID:25445213|PMID:25741868|PMID:25765472|PMID:26073755|PMID:27005929|PMID:27532257|PMID:28492532|PMID:29802319|PMID:29892012|PMID:30847666|PMID:31983221|PMID:32268277|PMID:34011629 620412 Jup junction plakoglobin gene DOID:0060480 left ventricular noncompaction ISO RGD:732396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 620412 Jup junction plakoglobin gene DOID:0080365 endometrial hyperplasia ISO RGD:732396 D RGD:2301747|PMID:12635138 20081030 RGD protein:decreased expression:endometrium 620412 Jup junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:7240710 20130221 OMIM 620412 Jup junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28166811|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 620412 Jup junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:33919104|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 620412 Jup junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:7240710 20130221 OMIM 620412 Jup junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29892012|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33919104|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 620412 Jup junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28831623 620412 Jup junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 620412 Jup junction plakoglobin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732396 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:10283 prostate cancer ISO RGD:732396 D RGD:2291864|PMID:15781623 20080401 RGD 620412 Jup junction plakoglobin gene DOID:10283 prostate cancer severity ISO RGD:732396 D RGD:2291876|PMID:10206308 20080402 RGD 620412 Jup junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732396 D RGD:2289818|PMID:17363521 20080401 RGD 620412 Jup junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732397 D RGD:2301748|PMID:11585741 20081030 RGD DNA, protein:mutations, increased expression:urinary bladder 620412 Jup junction plakoglobin gene DOID:11054 urinary bladder cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05) PMID:9783980|REF_RGD_ID:2291880 620412 Jup junction plakoglobin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:12930 dilated cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20031617|PMID:20857253|PMID:21859740|PMID:23861362|PMID:24033266|PMID:25616645|PMID:25741868|PMID:25820315|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28471438|PMID:28492532|PMID:28831623|PMID:31402444|PMID:31983221|PMID:32233023|PMID:34026867|PMID:35581137 620412 Jup junction plakoglobin gene DOID:1380 endometrial cancer ISO RGD:732396 D RGD:2301747|PMID:12635138 20081030 RGD protein:decreased expression:endometrium 620412 Jup junction plakoglobin gene DOID:2154 nephroblastoma disease_progression ISO RGD:732396 D RGD:2301745|PMID:17633921 20081030 RGD 620412 Jup junction plakoglobin gene DOID:2394 ovarian cancer ISO RGD:732396 D RGD:2291881|PMID:7604000 20080402 RGD 620412 Jup junction plakoglobin gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732396 D RGD:2291882|PMID:16610682 20080402 RGD 620412 Jup junction plakoglobin gene DOID:3390 palmoplantar keratosis ISO RGD:732396 D RGD:1600286|PMID:10902626 20070306 RGD Naxos disease, OMIM:601214 620412 Jup junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 620412 Jup junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 620412 Jup junction plakoglobin gene DOID:409 liver disease ISO RGD:732396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620412 Jup junction plakoglobin gene DOID:4440 seminoma ISO RGD:732396 D RGD:2291872|PMID:11956097 20080402 RGD 620412 Jup junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:2291866|PMID:15701841 20080401 RGD 620412 Jup junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:2291890|PMID:9891472 20080403 RGD 620412 Jup junction plakoglobin gene DOID:4603 epidermolytic hyperkeratosis ISS RGD:732397 D RGD:13592920 20180518 MouseDO OMIM:113800 620412 Jup junction plakoglobin gene DOID:630 genetic disease ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732396 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:24033266|PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732396 D RGD:2301235|PMID:14670177 20081030 RGD protein:increased expression:testis 620412 Jup junction plakoglobin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134 620412 Jup junction plakoglobin gene DOID:9000965 Neoplasm Metastasis ISO RGD:732396 D RGD:2301746|PMID:15619205 20081030 RGD associated with Ovarian Neoplasms 620412 Jup junction plakoglobin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 620412 Jup junction plakoglobin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620412 Jup junction plakoglobin gene DOID:9003163 Heart Block ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 620412 Jup junction plakoglobin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:9005527 No-Reflow Phenomenon ISO RGD:732396 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16824628 620412 Jup junction plakoglobin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732396 D RGD:1600286|PMID:10902626 20070306 RGD Naxos disease, OMIM:601214 620412 Jup junction plakoglobin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:732396 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 620412 Jup junction plakoglobin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:20864495|PMID:24033266|PMID:25351510|PMID:25363768|PMID:25741868|PMID:28492532|PMID:29892012|PMID:32268277|PMID:34011629 620412 Jup junction plakoglobin gene DOID:9008939 Breast Neoplasms ISO RGD:732396 D RGD:2291881|PMID:7604000 20080402 RGD 620412 Jup junction plakoglobin gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732396 D RGD:2291883|PMID:17008277 20080402 RGD 620412 Jup junction plakoglobin gene DOID:9008939 Breast Neoplasms severity ISO RGD:732396 D RGD:2291873|PMID:11276001 20080402 RGD 620413 Prmt3 protein arginine methyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1604394 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620413 Prmt3 protein arginine methyltransferase 3 gene DOID:2841 asthma IEP D RGD:9491823|PMID:20423833 20140912 RGD mRNA:increased expression:lung 620413 Prmt3 protein arginine methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620416 Dnm1l dynamin 1-like gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:733618 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 620416 Dnm1l dynamin 1-like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:7240710 20140911 OMIM 620416 Dnm1l dynamin 1-like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:17460227|PMID:18414213|PMID:20696759|PMID:25326635|PMID:25741868|PMID:26604000|PMID:26825290|PMID:26931468|PMID:26992161|PMID:27145208|PMID:27328748|PMID:28492532|PMID:29877124|PMID:30801875|PMID:30850373|PMID:31475481|PMID:31587467 620416 Dnm1l dynamin 1-like gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 620416 Dnm1l dynamin 1-like gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 620416 Dnm1l dynamin 1-like gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:733618 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 620416 Dnm1l dynamin 1-like gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:733618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:25741868|PMID:28492532 620416 Dnm1l dynamin 1-like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:7240710 20190315 OMIM 620416 Dnm1l dynamin 1-like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:15635063|PMID:16199547|PMID:20696759|PMID:25741868|PMID:26604000|PMID:26825290|PMID:27145208|PMID:27328748|PMID:28492532|PMID:28969390|PMID:29110115|PMID:29877124|PMID:30850373 620416 Dnm1l dynamin 1-like gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome PMID:25741868 620416 Dnm1l dynamin 1-like gene DOID:10652 Alzheimer's disease ISO RGD:733618 D RGD:7800727|PMID:19605646 20170131 RGD protein:decreased expression:hippocampus (human) 620416 Dnm1l dynamin 1-like gene DOID:10907 microcephaly ISO RGD:733618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 620416 Dnm1l dynamin 1-like gene DOID:12930 dilated cardiomyopathy ISS RGD:733619 D RGD:13592920 20180518 MouseDO 620416 Dnm1l dynamin 1-like gene DOID:13711 dental fluorosis IEP D RGD:12738230|PMID:23007560 20170131 RGD mRNA, protein:increased expression:frontal cortex (rat) 620416 Dnm1l dynamin 1-like gene DOID:14330 Parkinson's disease ISO RGD:733618 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:28215578 620416 Dnm1l dynamin 1-like gene DOID:3650 lactic acidosis ISO RGD:733618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 620416 Dnm1l dynamin 1-like gene DOID:3770 pulmonary fibrosis IEP D RGD:35673291|PMID:25284615 20200710 RGD mRNA,protein:increased expression:lung,mitochondrion 620416 Dnm1l dynamin 1-like gene DOID:3770 pulmonary fibrosis ISO RGD:733618 D RGD:35673291|PMID:25284615 20200710 RGD protein:increased expression:lung 620416 Dnm1l dynamin 1-like gene DOID:5723 optic atrophy ISO RGD:733618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 620416 Dnm1l dynamin 1-like gene DOID:630 genetic disease ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20696759|PMID:25741868|PMID:26604000|PMID:26931468|PMID:27145208|PMID:28492532|PMID:29877124|PMID:31587467 620416 Dnm1l dynamin 1-like gene DOID:700 mitochondrial metabolism disease ISO RGD:733618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 620416 Dnm1l dynamin 1-like gene DOID:784 chronic kidney disease treatment IEP D RGD:12738369|PMID:27801955 20170201 RGD 620416 Dnm1l dynamin 1-like gene DOID:820 myocarditis ISO RGD:733618 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 620416 Dnm1l dynamin 1-like gene DOID:890 mitochondrial encephalomyopathy ISO RGD:733618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 620416 Dnm1l dynamin 1-like gene DOID:9000220 Coxsackievirus Infections ISO RGD:733618 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 620416 Dnm1l dynamin 1-like gene DOID:9005526 Pulmonary Edema of Mountaineers IEP D RGD:12738217|PMID:23517027 20170130 RGD mRNA:increased expression:lung (rat) 620416 Dnm1l dynamin 1-like gene DOID:9007102 Myocardial Ischemia ISO RGD:733618 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620416 Dnm1l dynamin 1-like gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:733619 D RGD:329337366|PMID:30259997 20230428 RGD 620416 Dnm1l dynamin 1-like gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:11561956|PMID:21820301 20161114 RGD 620416 Dnm1l dynamin 1-like gene DOID:9970 obesity ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:26825290|PMID:27328748|PMID:28492532 620417 Ap3m1 adaptor related protein complex 3 subunit mu 1 gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:734238 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:16236538|PMID:21681106 620417 Ap3m1 adaptor related protein complex 3 subunit mu 1 gene DOID:630 genetic disease ISO RGD:734238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620417 Ap3m1 adaptor related protein complex 3 subunit mu 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 620418 Fbxo6 F-box protein 6 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 620418 Fbxo6 F-box protein 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 620418 Fbxo6 F-box protein 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620418 Fbxo6 F-box protein 6 gene DOID:630 genetic disease ISO RGD:1352122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620418 Fbxo6 F-box protein 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1352122 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 620419 Vamp5 vesicle-associated membrane protein 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 620419 Vamp5 vesicle-associated membrane protein 5 gene DOID:3393 coronary artery disease ISO RGD:1350486 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 620419 Vamp5 vesicle-associated membrane protein 5 gene DOID:630 genetic disease ISO RGD:1350486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62042 Syt11 synaptotagmin 11 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 62042 Syt11 synaptotagmin 11 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 62042 Syt11 synaptotagmin 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 62042 Syt11 synaptotagmin 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 62042 Syt11 synaptotagmin 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 62042 Syt11 synaptotagmin 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1343002 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 62042 Syt11 synaptotagmin 11 gene DOID:5812 MHC class II deficiency ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 62042 Syt11 synaptotagmin 11 gene DOID:630 genetic disease ISO RGD:1343002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62042 Syt11 synaptotagmin 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343002 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620420 Cdhr1 cadherin-related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 620420 Cdhr1 cadherin-related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 620420 Cdhr1 cadherin-related family member 1 gene DOID:0050795 cone dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26766544|PMID:28041643|PMID:28492532|PMID:28765526|PMID:30718709|PMID:33546218|PMID:35627310 620420 Cdhr1 cadherin-related family member 1 gene DOID:0080600 COVID-19 ISO RGD:737398 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620420 Cdhr1 cadherin-related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:7240710 20130221 OMIM 620420 Cdhr1 cadherin-related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 PMID:16199547|PMID:17576681|PMID:20087419|PMID:20805371|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:24154662|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:29785639|PMID:30576320|PMID:30718709|PMID:30992995|PMID:31387115|PMID:32681094|PMID:33546218|PMID:33691693|PMID:33946315|PMID:34926197|PMID:35627310|PMID:9536098 620420 Cdhr1 cadherin-related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 620420 Cdhr1 cadherin-related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 620420 Cdhr1 cadherin-related family member 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:737398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20805371|PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28492532|PMID:30718709 620420 Cdhr1 cadherin-related family member 1 gene DOID:630 genetic disease ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620420 Cdhr1 cadherin-related family member 1 gene DOID:8501 fundus dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20087419|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26350383|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:35627310|PMID:9536098 620421 Vamp8 vesicle-associated membrane protein 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1347649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 620421 Vamp8 vesicle-associated membrane protein 8 gene DOID:305 carcinoma ISO RGD:1347649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620421 Vamp8 vesicle-associated membrane protein 8 gene DOID:3393 coronary artery disease ISO RGD:1347649 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 620421 Vamp8 vesicle-associated membrane protein 8 gene DOID:630 genetic disease ISO RGD:1347649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620421 Vamp8 vesicle-associated membrane protein 8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620421 Vamp8 vesicle-associated membrane protein 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050476 Barth syndrome ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050873 follicular lymphoma ISO RGD:733467 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733467 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:733467 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:7240710 20190315 OMIM 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 47 PMID:25741868|PMID:27231034|PMID:28492532|PMID:28688840|PMID:29192153|PMID:29396028|PMID:32058063|PMID:32216104 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:733467 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:1227 neutropenia ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:12849 autistic disorder ISO RGD:733467 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:13628 favism ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:607 paraplegia ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:630 genetic disease ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:733467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:25741868|PMID:28492532 620423 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:9002720 Splenomegaly ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733751 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:733751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:3905 lung carcinoma ISO RGD:733751 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:20140017 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:630 genetic disease ISO RGD:733751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:733751 D RGD:2298875|PMID:11872041 20080730 RGD mRNA:increased expression:testis 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:1642807|PMID:17316608 20080730 RGD 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:9007023 Prenatal Injuries ISO RGD:733751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 620424 Rock1 Rho-associated coiled-coil containing protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733751 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20140017 620426 Phtf1 putative homeodomain transcription factor 1 gene DOID:0080690 RASopathy ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620426 Phtf1 putative homeodomain transcription factor 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 620426 Phtf1 putative homeodomain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1353546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISS RGD:733817 D RGD:13592920 20180518 MouseDO 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17254821|PMID:24033266|PMID:25741868|PMID:28492532 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:12849 autistic disorder ISO RGD:1351346 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1351346 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:630 genetic disease ISO RGD:1351346 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 620427 Pdlim3 PDZ and LIM domain 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1351346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 620428 Cfh complement factor H gene DOID:0060746 basal laminar drusen ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15761121|PMID:15761122|PMID:15870199|PMID:15895326|PMID:16229850|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:16630992|PMID:16710702|PMID:16787919|PMID:16816528|PMID:16936733|PMID:17018561|PMID:17076561|PMID:17079491|PMID:17198853|PMID:17210858|PMID:17241667|PMID:17293598|PMID:17360715|PMID:17396242|PMID:17398321|PMID:17472578|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20660596|PMID:21317894|PMID:21415311|PMID:21670343|PMID:21909106|PMID:21930971|PMID:21979047|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24333077|PMID:24498017|PMID:24847005|PMID:25006455|PMID:25037630|PMID:25188723|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098|PMID:9811382 620428 Cfh complement factor H gene DOID:0060746 basal laminar drusen susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 620428 Cfh complement factor H gene DOID:0080162 lupus nephritis ISO RGD:1353869 D RGD:5684551|PMID:22171659 20111222 RGD 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome IMP D RGD:7364995|PMID:17517971 20131015 RGD DNA:deletion:Cds: 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:11040768|PMID:20513133 20160322 RGD DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:11041162|PMID:23243267 20160323 RGD 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:11041172|PMID:9811382 20160323 RGD 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14978182|PMID:22019782 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:1599886|PMID:10577907 20070220 RGD DNA:missense mutation 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:7364995|PMID:17517971 20131015 RGD DNA:SNPs,Haplotype:: 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23307876|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24847005|PMID:24906858|PMID:25006455|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29686068|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:733427 D RGD:7364995|PMID:17517971 20131015 RGD DNA:deletion:Cds: 620428 Cfh complement factor H gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 620428 Cfh complement factor H gene DOID:0080600 COVID-19 severity ISO RGD:1353869 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNP: : 620428 Cfh complement factor H gene DOID:0110017 age related macular degeneration 4 ISO RGD:1353869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 4 PMID:10577907|PMID:10762557|PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15761121|PMID:15761122|PMID:15870199|PMID:15895326|PMID:16229850|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16630992|PMID:16710702|PMID:16787919|PMID:16816528|PMID:16936732|PMID:16936733|PMID:17018561|PMID:17076561|PMID:17079491|PMID:17198853|PMID:17210858|PMID:17241667|PMID:17293598|PMID:17360715|PMID:17396242|PMID:17398321|PMID:17472578|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20660596|PMID:21317894|PMID:21415311|PMID:21670343|PMID:21909106|PMID:21930971|PMID:21979047|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098|PMID:9811382 620428 Cfh complement factor H gene DOID:0110017 age related macular degeneration 4 susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 620428 Cfh complement factor H gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1353869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868 620428 Cfh complement factor H gene DOID:10976 membranous glomerulonephritis IEP D RGD:1599888|PMID:12911541 20070220 RGD mRNA, protein:increased expression:glomerulus 620428 Cfh complement factor H gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353869 D RGD:7365014|PMID:23497844 20131015 RGD DNA:SNP:cds:p.Y402H(human) 620428 Cfh complement factor H gene DOID:12030 panuveitis susceptibility ISO RGD:1353869 D RGD:7365014|PMID:23497844 20131015 RGD DNA:SNP:cds:p.Y402H(human) 620428 Cfh complement factor H gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353869 D RGD:11041164|PMID:14583443 20160323 RGD DNA:mutations, polymorphisms:promoter, exon:multiple 620428 Cfh complement factor H gene DOID:12554 hemolytic-uremic syndrome ISS RGD:733427 D RGD:13592920 20180518 MouseDO OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926 620428 Cfh complement factor H gene DOID:12574 posterior uveitis susceptibility ISO RGD:1353869 D RGD:7365014|PMID:23497844 20131015 RGD DNA:SNP:cds:p.Y402H(human) 620428 Cfh complement factor H gene DOID:1287 cardiovascular system disease ISO RGD:1353869 D RGD:7365023|PMID:23296223 20131015 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human) 620428 Cfh complement factor H gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:15870199|PMID:16299065|PMID:17089378|PMID:17947292|PMID:18252712|PMID:19259132|PMID:21909106|PMID:25741868|PMID:28492532|PMID:8072530 620428 Cfh complement factor H gene DOID:13603 obstructive jaundice IEP D RGD:7364952|PMID:20132852 20131014 RGD protein:decreased expression:plasma: 620428 Cfh complement factor H gene DOID:1407 anterior uveitis ISO RGD:1353869 D RGD:7411695|PMID:22714898 20131118 RGD DNA:SNP, haplotype: :rs800292 (human) 620428 Cfh complement factor H gene DOID:1540 parathyroid carcinoma ISO RGD:1353869 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620428 Cfh complement factor H gene DOID:1686 glaucoma ISO RGD:1353869 D RGD:7364950|PMID:20484586 20131014 RGD protein:decreased expression:retina: 620428 Cfh complement factor H gene DOID:1749 squamous cell carcinoma ISO RGD:1353869 D RGD:8662319|PMID:23938460 20140619 RGD mRNA:increased expression:skin 620428 Cfh complement factor H gene DOID:2377 multiple sclerosis no_association ISO RGD:1353869 D RGD:5684555|PMID:21618592 20111222 RGD 620428 Cfh complement factor H gene DOID:2527 nephrosis IEP D RGD:7364901|PMID:22815489 20131008 RGD protein:altered expression:kidney: 620428 Cfh complement factor H gene DOID:2569 retinal drusen ISO RGD:1353869 D RGD:7365010|PMID:22491393 20131015 RGD DNA:mutations:multiple: 620428 Cfh complement factor H gene DOID:2569 retinal drusen susceptibility ISO RGD:1353869 D RGD:7365005|PMID:18936151 20131015 RGD DNA:SNPs: :p.Y402H, rs1410996(human) 620428 Cfh complement factor H gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1353869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14978182 620428 Cfh complement factor H gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1353869 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II PMID:32581362 620428 Cfh complement factor H gene DOID:2921 glomerulonephritis ISO RGD:733427 D RGD:7365002|PMID:17344423 20131015 RGD 620428 Cfh complement factor H gene DOID:3454 brain infarction treatment ISO RGD:1353869 D RGD:5508764|PMID:21695352 20131014 RGD 620428 Cfh complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16518403|PMID:16754848|PMID:17554167|PMID:21909106|PMID:22019782|PMID:26691988 620428 Cfh complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:5684552|PMID:22019782 20111222 RGD 620428 Cfh complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:7364995|PMID:17517971 20131015 RGD DNA:SNPs,Haplotype:: 620428 Cfh complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:7365033|PMID:21909106 20131016 RGD DNA:SNP: :rs800292(human) 620428 Cfh complement factor H gene DOID:4448 macular degeneration ISO RGD:1353869 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Macular degeneration 620428 Cfh complement factor H gene DOID:4448 macular degeneration disease_progression ISO RGD:1353869 D RGD:7364999|PMID:17456821 20131015 RGD DNA:SNP:cds:p.Y402H(human) 620428 Cfh complement factor H gene DOID:4448 macular degeneration no_association ISO RGD:1353869 D RGD:7365035|PMID:16710702 20131016 RGD DNA:SNP: :rs1061170 (Y402H)(human) 620428 Cfh complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:7365021|PMID:23534868 20131015 RGD DNA:SNP: :rs1410996(human) 620428 Cfh complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:7365022|PMID:23362846 20131015 RGD DNA:SNP: :rs1061170(human) 620428 Cfh complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:7365034|PMID:16877387 20131016 RGD DNA:SNP:cds:p.Y402H(human) 620428 Cfh complement factor H gene DOID:4448 macular degeneration susceptibility ISO RGD:1353869 D RGD:7365036|PMID:16379025 20131016 RGD DNA:SNP:cds:p.Y402H(human) 620428 Cfh complement factor H gene DOID:5327 retinal detachment no_association ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y402H (rs1061170) PMID:18515590|REF_RGD_ID:7411726 620428 Cfh complement factor H gene DOID:5327 retinal detachment susceptibility ISO RGD:1353869 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) PMID:18515590|REF_RGD_ID:7411726 620428 Cfh complement factor H gene DOID:557 kidney disease ISO RGD:1353869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:11158219|PMID:12424708|PMID:12697737|PMID:16338962|PMID:16601698|PMID:17018561|PMID:18235085|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:21317894|PMID:22019782|PMID:22410797|PMID:23431077|PMID:24036949|PMID:24498017|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26826462|PMID:28492532|PMID:29410599|PMID:29500241|PMID:29888403|PMID:31447099 620428 Cfh complement factor H gene DOID:576 proteinuria IEP D RGD:7364901|PMID:22815489 20131008 RGD protein:altered expression:kidney: 620428 Cfh complement factor H gene DOID:612 primary immunodeficiency disease ISO RGD:1353869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14978182 620428 Cfh complement factor H gene DOID:630 genetic disease ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620428 Cfh complement factor H gene DOID:670 amphetamine abuse IEP D RGD:7364944|PMID:22871478 20131014 RGD protein:increased expression:serum, hippocampus: 620428 Cfh complement factor H gene DOID:670 amphetamine abuse ISO RGD:1353869 D RGD:7364944|PMID:22871478 20131014 RGD protein:increased expression:serum: 620428 Cfh complement factor H gene DOID:784 chronic kidney disease ISO RGD:1353869 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 620428 Cfh complement factor H gene DOID:8466 retinal degeneration IEP D RGD:7364947|PMID:21467172 20131014 RGD protein:increased expression:retina 620428 Cfh complement factor H gene DOID:8893 psoriasis severity ISO RGD:1353869 D RGD:8662318|PMID:2973157 20140619 RGD protein:increased expression:plasma 620428 Cfh complement factor H gene DOID:8947 diabetic retinopathy ISO RGD:1353869 D RGD:7365019|PMID:23864767 20131015 RGD associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human) 620428 Cfh complement factor H gene DOID:8947 diabetic retinopathy ISO RGD:1353869 D RGD:7365023|PMID:23296223 20131015 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human) 620428 Cfh complement factor H gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1353869 D RGD:5684556|PMID:20351616 20111222 RGD 620428 Cfh complement factor H gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1353869 D RGD:11041165|PMID:18557729 20160323 RGD associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human) 620428 Cfh complement factor H gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1353869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:26283675|PMID:28492532 620428 Cfh complement factor H gene DOID:9000989 Pneumococcal Infections ISO RGD:733427 D RGD:108019050|PMID:26802141 20210316 RGD 620428 Cfh complement factor H gene DOID:9000989 Pneumococcal Infections exacerbates ISO RGD:1353869 D RGD:108019050|PMID:26802141 20210316 RGD 620428 Cfh complement factor H gene DOID:9001044 Choroidal Neovascularization ISO RGD:1353869 D RGD:7365030|PMID:22678500 20131016 RGD associated with myopia;DNA:SNP: :rs1061170(human) 620428 Cfh complement factor H gene DOID:9001044 Choroidal Neovascularization ISO RGD:1353869 D RGD:7365031|PMID:22536038 20131016 RGD DNA:SNPs:cds:p.Y402H,I62V(human) 620428 Cfh complement factor H gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1353869 D RGD:7364943|PMID:23258212 20131014 RGD 620428 Cfh complement factor H gene DOID:9001708 Hemorrhagic Shock IEP D RGD:7364990|PMID:15973109 20131015 RGD 620428 Cfh complement factor H gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1353869 D RGD:11041173|PMID:18496585 20160323 RGD 620428 Cfh complement factor H gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1353869 D RGD:7364987|PMID:18403050 20131015 RGD 620428 Cfh complement factor H gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:7364958|PMID:19212187 20131014 RGD mRNA,protein:decreased expression:liver,plasma: 620428 Cfh complement factor H gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353869 D RGD:7364958|PMID:19212187 20131014 RGD 620428 Cfh complement factor H gene DOID:9002457 Experimental Arthritis ISO RGD:733427 D RGD:5684557|PMID:19828624 20111222 RGD 620428 Cfh complement factor H gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353869 D RGD:5684553|PMID:21871809 20111222 RGD 620428 Cfh complement factor H gene DOID:9003092 Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency ISO RGD:1353869 D RGD:7364995|PMID:17517971 20131015 RGD DNA:SNPs,Haplotype:: 620428 Cfh complement factor H gene DOID:9003092 Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency ISO RGD:733427 D RGD:7364995|PMID:17517971 20131015 RGD 620428 Cfh complement factor H gene DOID:9004009 Reperfusion Injury IEP D RGD:7364988|PMID:17263982 20131015 RGD protein:increased expression:plasma: 620428 Cfh complement factor H gene DOID:9004484 Sepsis IEP D RGD:7364952|PMID:20132852 20131014 RGD protein:decreased expression:plasma: 620428 Cfh complement factor H gene DOID:9004484 Sepsis treatment ISO RGD:1353869 D RGD:7364952|PMID:20132852 20131014 RGD associated with Jaundice,Obstructive; 620428 Cfh complement factor H gene DOID:9004484 Sepsis treatment ISO RGD:1353869 D RGD:7364986|PMID:19009024 20131015 RGD 620428 Cfh complement factor H gene DOID:9004663 Intestinal Ischemia IEP D RGD:7364988|PMID:17263982 20131015 RGD protein:decreased expression:plasma 620428 Cfh complement factor H gene DOID:9005036 Bacteremia ISO RGD:1353869 D RGD:7364945|PMID:22104107 20131014 RGD associated with Meningococcal Infections; 620428 Cfh complement factor H gene DOID:9005377 Complement Factor H Deficiency ISO RGD:1353869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: C3 GLOMERULOPATHY 1 | ClinVar Annotator: match by term: Factor H deficiency PMID:10206995|PMID:10577907|PMID:10762557|PMID:10803850|PMID:10975323|PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17947292|PMID:18235085|PMID:18252712|PMID:19259132|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20301541|PMID:21317894|PMID:21909106|PMID:22019782|PMID:22410797|PMID:23431077|PMID:24036949|PMID:24498017|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26826462|PMID:28492532|PMID:29410599|PMID:29500241|PMID:2950269|PMID:2966809|PMID:29888403|PMID:31447099|PMID:34189567|PMID:7742208|PMID:8072530|PMID:9811382 620428 Cfh complement factor H gene DOID:9005377 Complement Factor H Deficiency susceptibility ISO RGD:1353869 D RGD:7240710 20230517 OMIM 620428 Cfh complement factor H gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7364948|PMID:20538296 20131014 RGD protein:decreased expression:serum: 620428 Cfh complement factor H gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1353869 D RGD:7364948|PMID:20538296 20131014 RGD 620428 Cfh complement factor H gene DOID:9007096 Stroke IEP D RGD:5508764|PMID:21695352 20131014 RGD protein:decreased expression:plasma: 620428 Cfh complement factor H gene DOID:9007189 Multifocal Choroiditis ISO RGD:1353869 D RGD:7411728|PMID:19001225 20131119 RGD DNA:SNPs, missense mutation:introns, cds:multiple 620428 Cfh complement factor H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353869 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 620428 Cfh complement factor H gene DOID:9008366 Meningococcal Infections ISO RGD:1353869 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20694013 620428 Cfh complement factor H gene DOID:9008366 Meningococcal Infections exacerbates ISO RGD:1353869 D RGD:108019051|PMID:19047406 20210316 RGD 620428 Cfh complement factor H gene DOID:9008366 Meningococcal Infections treatment ISO RGD:1353869 D RGD:11041174|PMID:25143339 20160323 RGD 620428 Cfh complement factor H gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:1353869 D RGD:7411726|PMID:18515590 20131119 RGD DNA:missense mutation:cds:p.Y402H (rs1061170) (human) 620428 Cfh complement factor H gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353869 D RGD:7411726|PMID:18515590 20131119 RGD DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human) 620428 Cfh complement factor H gene DOID:9008867 C3 Glomerulopathy 3 ISO RGD:1353869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:8072530|PMID:9536098 620428 Cfh complement factor H gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353869 D RGD:5684554|PMID:21637784 20111222 RGD 620428 Cfh complement factor H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353869 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620429 Cfi complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620429 Cfi complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:7240710 20230517 OMIM 620429 Cfi complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C3 GLOMERULOPATHY 2 | ClinVar Annotator: match by term: Complement factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 620429 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620429 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:6906889|PMID:15173250 20121018 RGD 620429 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:7240710 20230517 OMIM 620429 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31249236|PMID:31517156|PMID:32510551|PMID:849647|PMID:8613545|PMID:9536098 620429 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 620429 Cfi complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620429 Cfi complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:7240710 20230517 OMIM 620429 Cfi complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25986072|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 620429 Cfi complement factor I gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:18825487|PMID:25741868|PMID:28492532 620429 Cfi complement factor I gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736809 D RGD:8662315|PMID:23900096 20140619 RGD DNA:SNPs: :rs10033900, rs13117504 (human) 620429 Cfi complement factor I gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:736809 D RGD:108019049|PMID:9745775 20210315 RGD 620429 Cfi complement factor I gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:18825487|PMID:25741868|PMID:28492532 620429 Cfi complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:18374984|PMID:19065647|PMID:19861685|PMID:20016463|PMID:20106822|PMID:20301541|PMID:22710145|PMID:23421077|PMID:23431077|PMID:24033266|PMID:24036952|PMID:25741868|PMID:25988862|PMID:26826462|PMID:27091480|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:849647|PMID:8613545|PMID:9536098 620429 Cfi complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 620429 Cfi complement factor I gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:732319 D RGD:6906892|PMID:18202746 20121018 RGD 620429 Cfi complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685748|PMID:24036952|PMID:26691988 620429 Cfi complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:8662313|PMID:23685748 20140619 RGD DNA:missense mutation:cds:p.G119R (human) 620429 Cfi complement factor I gene DOID:4448 macular degeneration disease_progression ISO RGD:736809 D RGD:8662321|PMID:22815349 20140619 RGD DNA:SNP:intron:g.110659067T>C (rs10033900) (human) 620429 Cfi complement factor I gene DOID:4448 macular degeneration no_association ISO RGD:736809 D RGD:8662315|PMID:23900096 20140619 RGD DNA:SNP:cds:c.345G>A (rs2285714) (human) 620429 Cfi complement factor I gene DOID:557 kidney disease ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 620429 Cfi complement factor I gene DOID:630 genetic disease ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620429 Cfi complement factor I gene DOID:784 chronic kidney disease ISO RGD:736809 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:17084897|PMID:20301541|PMID:25741868|PMID:28492532 620429 Cfi complement factor I gene DOID:8893 psoriasis severity ISO RGD:736809 D RGD:8662318|PMID:2973157 20140619 RGD protein:increased expression:plasma 620429 Cfi complement factor I gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:736809 D RGD:11041165|PMID:18557729 20160323 RGD associated with Kidney Failure, Chronic;DNA:missense mutations, splice-site mutation:exon:multiple 620429 Cfi complement factor I gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:736809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:28492532 620429 Cfi complement factor I gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:8662317|PMID:23727008 20140619 RGD mRNA:increased expression:spiral organ of cochlea, sensory epithelium 62043 Xdh xanthine dehydrogenase gene DOID:0050700 cardiomyopathy treatment IDA D RGD:13208959|PMID:25889404 20170825 RGD associated with Insulin Resistance 62043 Xdh xanthine dehydrogenase gene DOID:0050700 cardiomyopathy treatment IMP D RGD:7247699|PMID:23751350 20130724 RGD associated with Cachexia 62043 Xdh xanthine dehydrogenase gene DOID:0050855 renal fibrosis treatment IMP D RGD:7247643|PMID:22350467 20130723 RGD associated with Ureteral Obstruction 62043 Xdh xanthine dehydrogenase gene DOID:0060236 xanthinuria ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: XDH deficiency | ClinVar Annotator: match by term: Xanthinuria PMID:11379872|PMID:16199547|PMID:17368066|PMID:17576681|PMID:18300946|PMID:18712049|PMID:20077140|PMID:20814157|PMID:21963464|PMID:22421815|PMID:22981351|PMID:23203137|PMID:24033266|PMID:25370766|PMID:25741868|PMID:25823988|PMID:26110747|PMID:26120850|PMID:26283345|PMID:26443251|PMID:26863601|PMID:27703193|PMID:28492532|PMID:28508967|PMID:30755392|PMID:32071838|PMID:9153281|PMID:9536098 62043 Xdh xanthine dehydrogenase gene DOID:0080000 muscular disease treatment IEP D RGD:13209133|PMID:9789800 20170830 RGD 62043 Xdh xanthine dehydrogenase gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1348452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 62043 Xdh xanthine dehydrogenase gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 62043 Xdh xanthine dehydrogenase gene DOID:10611 protein-losing enteropathy ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein-losing enteropathy PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:1063 interstitial nephritis IMP D RGD:13209024|PMID:15933230 20170829 RGD 62043 Xdh xanthine dehydrogenase gene DOID:1074 kidney failure ISO RGD:62335 D RGD:7247636|PMID:23024809 20130723 RGD DNA:nonsense mutation:CDS 62043 Xdh xanthine dehydrogenase gene DOID:1074 kidney failure ISO RGD:62335 D RGD:7247649|PMID:19667249 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:1074 kidney failure treatment ISO RGD:62335 D RGD:7247633|PMID:23137955 20130723 RGD associated with Hyperuricemia 62043 Xdh xanthine dehydrogenase gene DOID:10762 portal hypertension IEP D RGD:13209137|PMID:10562591 20170830 RGD protein:alternative form:jejunum 62043 Xdh xanthine dehydrogenase gene DOID:10763 hypertension IEP D RGD:13210518|PMID:12826072 20170901 RGD 62043 Xdh xanthine dehydrogenase gene DOID:10763 hypertension ISO RGD:1348452 D RGD:7247654|PMID:18712049 20130723 RGD DNA:SNPs:exon, intron:47686C>T, 69901A>C, 67873A>C (p.N1109T) (human) 62043 Xdh xanthine dehydrogenase gene DOID:10763 hypertension treatment IDA D RGD:7247630|PMID:23746952 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:10763 hypertension treatment ISO RGD:1348452 D RGD:7247653|PMID:18728266 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:11054 urinary bladder cancer ISO RGD:1348452 D RGD:7247647|PMID:20087949 20130723 RGD protein:decreased activity:urinary bladder 62043 Xdh xanthine dehydrogenase gene DOID:11111 hydronephrosis ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:114 heart disease ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17217956 62043 Xdh xanthine dehydrogenase gene DOID:1227 neutropenia ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 62043 Xdh xanthine dehydrogenase gene DOID:1287 cardiovascular system disease treatment ISO RGD:1348452 D RGD:7247631|PMID:23192770 20130723 RGD associated with Hypertensive Nephropathy 62043 Xdh xanthine dehydrogenase gene DOID:13189 gout ISO RGD:1348452 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29071757 62043 Xdh xanthine dehydrogenase gene DOID:13580 cholestasis IEP D RGD:13209135|PMID:10898233 20170830 RGD protein:alternative form:liver 62043 Xdh xanthine dehydrogenase gene DOID:1470 major depressive disorder ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 62043 Xdh xanthine dehydrogenase gene DOID:1588 thrombocytopenia ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2510358 62043 Xdh xanthine dehydrogenase gene DOID:1588 thrombocytopenia ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:1919 Lesch-Nyhan syndrome treatment ISO RGD:1348452 D RGD:7247657|PMID:17697859 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:1920 hyperuricemia ISO RGD:1348452 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29071757 62043 Xdh xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment IDA D RGD:7247639|PMID:22690247 20130723 RGD protein:altered activity:kidney 62043 Xdh xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:1348452 D RGD:7247642|PMID:22436129 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:62335 D RGD:13208955|PMID:26197582 20170825 RGD 62043 Xdh xanthine dehydrogenase gene DOID:1920 hyperuricemia treatment ISO RGD:62335 D RGD:7247638|PMID:22856880 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:1348452 D RGD:152995273|PMID:8138195 20220610 RGD protein:increased activity:larynx 62043 Xdh xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment IDA D RGD:7247641|PMID:22571266 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment IDA D RGD:7247650|PMID:19628223 20130723 RGD associated with Reperfusion Injury 62043 Xdh xanthine dehydrogenase gene DOID:3021 acute kidney failure treatment ISO RGD:62335 D RGD:7247656|PMID:18539378 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:305 carcinoma ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62043 Xdh xanthine dehydrogenase gene DOID:326 ischemia ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22688000 62043 Xdh xanthine dehydrogenase gene DOID:3407 carotid artery disease ISO RGD:1348452 D RGD:7247654|PMID:18712049 20130723 RGD associated with Hypertension;DNA:SNP:intron:69901A>C (human) 62043 Xdh xanthine dehydrogenase gene DOID:3525 middle cerebral artery infarction ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 62043 Xdh xanthine dehydrogenase gene DOID:4989 pancreatitis IEP D RGD:7247701|PMID:14728722 20130724 RGD 62043 Xdh xanthine dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19933411 62043 Xdh xanthine dehydrogenase gene DOID:630 genetic disease ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 62043 Xdh xanthine dehydrogenase gene DOID:684 hepatocellular carcinoma IEP D RGD:5135059|PMID:179860 20110712 RGD protein:decreased activity:tumor (rat) 62043 Xdh xanthine dehydrogenase gene DOID:784 chronic kidney disease ISO RGD:1348452 D RGD:7247654|PMID:18712049 20130723 RGD associated with Hypertension;DNA:SNP: :66292C>G (human) 62043 Xdh xanthine dehydrogenase gene DOID:784 chronic kidney disease treatment IDA D RGD:7247640|PMID:22622455 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:8283 peritonitis IEP D RGD:13210513|PMID:1443884 20170901 RGD 62043 Xdh xanthine dehydrogenase gene DOID:8283 peritonitis IEP D RGD:13210579|PMID:8367813 20170905 RGD 62043 Xdh xanthine dehydrogenase gene DOID:83 cataract ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:83 cataract treatment IEP D RGD:13208958|PMID:25860848 20170825 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13209021|PMID:1649310 20170829 RGD protein:increased expression:spinal cord 62043 Xdh xanthine dehydrogenase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62043 Xdh xanthine dehydrogenase gene DOID:9000656 Penetrating Wounds treatment IEP D RGD:13209015|PMID:8121173 20170828 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9000998 Brain Injuries treatment IEP D RGD:13208950|PMID:26528358 20170825 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9001390 Testis Reperfusion Injury treatment IDA D RGD:7247698|PMID:23769121 20130724 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:1348452 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency PMID:18384427|PMID:28492532 62043 Xdh xanthine dehydrogenase gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:13210515|PMID:3460692 20170901 RGD protein:decreased expression:liver 62043 Xdh xanthine dehydrogenase gene DOID:9001725 Retina Reperfusion Injury treatment IMP D RGD:13210506|PMID:9288448 20170901 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:13209011|PMID:24768926 20170828 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:7247644|PMID:22302365 20130723 RGD associated with Diabetes Mellitus, Experimental 62043 Xdh xanthine dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62335 D RGD:7247651|PMID:19458127 20130723 RGD associated with Diabetes Mellitus, Type 2 62043 Xdh xanthine dehydrogenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:9002457 Experimental Arthritis IEP D RGD:13208957|PMID:25870945 20170825 RGD protein:increased expression:brain, mitochondrion 62043 Xdh xanthine dehydrogenase gene DOID:9002549 Shock treatment IMP D RGD:13210509|PMID:1662198 20170901 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9002906 Multiple Organ Failure ISO RGD:1348452 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26968635 62043 Xdh xanthine dehydrogenase gene DOID:9002928 Colonic Neoplasms IEP D RGD:13210519|PMID:3163916 20170901 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9002955 Nerve Degeneration ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9147382 62043 Xdh xanthine dehydrogenase gene DOID:9003420 Carbon Monoxide Poisoning IEP D RGD:13210748|PMID:8248931 20170906 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9003420 Carbon Monoxide Poisoning IMP D RGD:13209022|PMID:17433579 20170829 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9003646 Arterial Thrombosis treatment IMP D RGD:13208952|PMID:26374946 20170825 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9004009 Reperfusion Injury ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12910483 62043 Xdh xanthine dehydrogenase gene DOID:9004009 Reperfusion Injury treatment IDA D RGD:7247700|PMID:23403765 20130724 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9004237 Hyperoxic Lung Injury IEP D RGD:13209004|PMID:2549869 20170828 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9004283 Transplant Rejection treatment IMP D RGD:13209011|PMID:24768926 20170828 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9004466 Xanthinuria, Type II ISO RGD:1348452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:10844591|PMID:16199547|PMID:17368066|PMID:17576681|PMID:18300946|PMID:18384427|PMID:18712049|PMID:20077140|PMID:21963464|PMID:22981351|PMID:23203137|PMID:24033266|PMID:25370766|PMID:25741868|PMID:26110747|PMID:26120850|PMID:26283345|PMID:26443251|PMID:26521682|PMID:27703193|PMID:28492532|PMID:30755392|PMID:32067994|PMID:32071838|PMID:9153281|PMID:9536098 62043 Xdh xanthine dehydrogenase gene DOID:9004484 Sepsis treatment IDA D RGD:7247648|PMID:19751566 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:13209002|PMID:9655743 20170828 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:1348452 D RGD:7247645|PMID:21719783 20130723 RGD associated with Renal Insufficiency, Chronic 62043 Xdh xanthine dehydrogenase gene DOID:9004912 Hyperoxaluria IEP D RGD:13208954|PMID:26241473 20170825 RGD protein:increased expression:kidney 62043 Xdh xanthine dehydrogenase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62043 Xdh xanthine dehydrogenase gene DOID:9005465 Renal Ischemia IEP D RGD:13209019|PMID:2253787 20170829 RGD protein:decreased expression:kidney 62043 Xdh xanthine dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1304441|PMID:14532905 20170828 RGD protein:increased expression:brain, heart, kidney 62043 Xdh xanthine dehydrogenase gene DOID:9006024 Hypotension IEP D RGD:13209132|PMID:9895379 20170830 RGD protein:alternative form:ileum 62043 Xdh xanthine dehydrogenase gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:7247637|PMID:22995295 20130723 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:7247695|PMID:20616412 20130724 RGD associated with Diabetes Mellitus, Type 2 62043 Xdh xanthine dehydrogenase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis treatment IEP D RGD:13208956|PMID:26121320 20170825 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:7247697|PMID:23843977 20130724 RGD associated with Diabetes Mellitus, Experimental 62043 Xdh xanthine dehydrogenase gene DOID:9007095 Pneumoperitoneum IDA D RGD:7247655|PMID:18629585 20130723 RGD protein:increased activity:kidney 62043 Xdh xanthine dehydrogenase gene DOID:9007356 Eczema ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:9007661 Dwarfism ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:13209016|PMID:23010742 20170828 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13209131|PMID:3162724 20170830 RGD 62043 Xdh xanthine dehydrogenase gene DOID:9008241 Xanthinuria, Type I ISO RGD:1348452 D RGD:1624377|PMID:9153281 20070510 RGD DNA:point mutation, deletion:exon:p.R228X, 2567delC (human) 62043 Xdh xanthine dehydrogenase gene DOID:9008241 Xanthinuria, Type I ISO RGD:1348452 D RGD:7240710 20130221 OMIM 62043 Xdh xanthine dehydrogenase gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1348452 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 62043 Xdh xanthine dehydrogenase gene DOID:9008957 Urachal Cyst ISO RGD:1348452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urachal cyst PMID:25741868|PMID:28492532|PMID:30755392 62043 Xdh xanthine dehydrogenase gene DOID:9477 pulmonary embolism ISO RGD:1348452 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2510358 62043 Xdh xanthine dehydrogenase gene DOID:9970 obesity treatment IEP D RGD:13210504|PMID:7616299 20170901 RGD 620430 Myoc myocilin gene DOID:1067 open-angle glaucoma ISO RGD:737429 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21059646 620430 Myoc myocilin gene DOID:1067 open-angle glaucoma ISO RGD:737429 D RGD:7401194|PMID:12860809 20131107 RGD DNA:missense mutation:cds:p.K423E (human) 620430 Myoc myocilin gene DOID:1067 open-angle glaucoma ISO RGD:737429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Open-angle glaucoma PMID:25741868|PMID:28492532 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7240710 20130221 OMIM 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394787|PMID:23886590 20131105 RGD DNA:snp:cds:pT377R (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394788|PMID:9792882 20131105 RGD DNA:snps:cds:p.P370L, p.Y437H (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394798|PMID:23566828 20131105 RGD DNA:insertion:cds:p.D395_E396insDP (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394800|PMID:23517641 20131105 RGD DNA:snp:cds:p.V251A (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394828|PMID:20806035 20131105 RGD DNA:snp:cds:p.N450Y (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394834|PMID:19784393 20131105 RGD DNA:snp:cds:p.Y371D (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7394848|PMID:19234343 20131105 RGD DNA:snp:cds:p.D384N (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7401186|PMID:12442283 20131107 RGD DNA:missense mutations, nonsense mutation:cds:multiple (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7401247|PMID:16401791 20131112 RGD DNA:snp:cds:pC245Y (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7401248|PMID:17893668 20131112 RGD DNA:snp:cds:pD380A (human) 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders PMID:10196380|PMID:10330365|PMID:10545602|PMID:10644174|PMID:10798654|PMID:10815160|PMID:10819638|PMID:10873982|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11292420|PMID:11298682|PMID:11535458|PMID:11604506|PMID:11774072|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12356829|PMID:12447164|PMID:12522550|PMID:12868033|PMID:12872267|PMID:14193667|PMID:14627955|PMID:14688426|PMID:14767915|PMID:15025728|PMID:15069026|PMID:15723004|PMID:15733270|PMID:15790895|PMID:15851979|PMID:16148883|PMID:16288197|PMID:16297911|PMID:16401791|PMID:16466712|PMID:16636654|PMID:17210859|PMID:17438518|PMID:17499207|PMID:17562996|PMID:17563717|PMID:17615537|PMID:17867509|PMID:17893664|PMID:18728751|PMID:18776955|PMID:19023451|PMID:19145250|PMID:19234343|PMID:20021252|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22194650|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23304066|PMID:23922489|PMID:24033266|PMID:24732711|PMID:24825108|PMID:25741868|PMID:25777973|PMID:26396484|PMID:26633542|PMID:27092720|PMID:27485216|PMID:28492532|PMID:30484747|PMID:35196929|PMID:3756132|PMID:6770678|PMID:8513321|PMID:9005853|PMID:9328473|PMID:9345106|PMID:9361308|PMID:9510647|PMID:9535666|PMID:9556305|PMID:9639450|PMID:9697688|PMID:9754180|PMID:9804137 620430 Myoc myocilin gene DOID:1068 juvenile glaucoma susceptibility ISO RGD:737429 D RGD:7401192|PMID:17893664 20131107 RGD DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:734341 D RGD:7394791|PMID:15623777 20131105 RGD Y437H 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:734341 D RGD:7401251|PMID:22328638 20131112 RGD 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:1600838|PMID:10196380 20070328 RGD DNA:mutations:multiple (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:1600840|PMID:9005853 20070328 RGD DNA:snps:cds:p.G357V, p.Q361X, p.Y430H (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394789|PMID:9535666 20131105 RGD DNA:snps:cds:multiple (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394792|PMID:23876925 20131105 RGD Y437H;human gene in mouse model 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394801|PMID:23453510 20131105 RGD DNA:mutations:multiple (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394814|PMID:22933836 20131105 RGD DNA:snps:cds:p.T209N, p.L215Q (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394816|PMID:22736945 20131105 RGD DNA:mutations:multiple (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394841|PMID:19688280 20131105 RGD DNA:silent mutation, deletion:cds:p.F336F, c.1084delG (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7394843|PMID:12447164 20131105 RGD DNA:snp:cds:p.Q48H (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7401164|PMID:17197538 20131106 RGD DNA:snp:cds:p.G252R (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7401171|PMID:20179615 20140130 RGD protein:increased expression:aqueous humor 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7401175|PMID:15483649 20131106 RGD DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:7401254|PMID:18334962 20131112 RGD DNA:snps:cds:p.A363T (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:737429 D RGD:7401240|PMID:12215093 20131112 RGD DNA:snp:promoter:g.-1000C>G (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:1600842|PMID:11595024 20070328 RGD DNA:snp:promoter:g.-1000C>G (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:7401245|PMID:16431959 20131112 RGD DNA:snp:cds:pT377M (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:7401163|PMID:19145250 20131106 RGD DNA:snps:cds:p.G12R, p.V53A, p.T353I (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:7401168|PMID:22879734 20131106 RGD DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:7401170|PMID:21655360 20131106 RGD DNA:snp:cds:p.G367R (human) 620430 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:7401189|PMID:12189160 20131107 RGD DNA:snps:cds:multiple (human) 620430 Myoc myocilin gene DOID:11211 buphthalmos ISO RGD:737429 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic PMID:12447164|PMID:15025728|PMID:15723004|PMID:15733270|PMID:16288197|PMID:16466712|PMID:17563717|PMID:22194650|PMID:22736945|PMID:25741868|PMID:28492532|PMID:35196929 620430 Myoc myocilin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737429 D RGD:7771548|PMID:16148883 20131219 RGD DNA:Haplotype: : 620430 Myoc myocilin gene DOID:1540 parathyroid carcinoma ISO RGD:737429 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620430 Myoc myocilin gene DOID:1686 glaucoma ISO RGD:737429 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:30389787|PMID:31959993 620430 Myoc myocilin gene DOID:1686 glaucoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:10196380|PMID:10330365|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11298682|PMID:11803488|PMID:12189160|PMID:12356829|PMID:12442283|PMID:12872267|PMID:14688426|PMID:14764620|PMID:14767915|PMID:15790895|PMID:16148883|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17893664|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21850185|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23922489|PMID:24033266|PMID:25741868|PMID:27485216|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9772276|PMID:9804137 620430 Myoc myocilin gene DOID:1686 glaucoma TAS D RGD:633384|PMID:10833334 19990101 RGD 620430 Myoc myocilin gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:7401266|PMID:15610237 20131112 RGD protein:increased expression:renal glomerulus (rat) 620430 Myoc myocilin gene DOID:6000 congestive heart failure ISO RGD:737429 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 620430 Myoc myocilin gene DOID:627 severe combined immunodeficiency ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 620430 Myoc myocilin gene DOID:630 genetic disease ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620430 Myoc myocilin gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 620430 Myoc myocilin gene DOID:9000998 Brain Injuries IEP D RGD:7401267|PMID:12799138 20131112 RGD mRNA:increased expression:cerebral cortex (rat) 620430 Myoc myocilin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737429 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620430 Myoc myocilin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:737429 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E PMID:10196380|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11298682|PMID:11604506|PMID:11774072|PMID:12189160|PMID:12356829|PMID:12872267|PMID:14688426|PMID:15851979|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17615537|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22933836|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9804137 620430 Myoc myocilin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737429 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 620430 Myoc myocilin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737429 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620430 Myoc myocilin gene DOID:9282 ocular hypertension IEP D RGD:1601004|PMID:17102796 20131112 RGD mRNA:increased expression:retina (rat) 620430 Myoc myocilin gene DOID:9282 ocular hypertension ISO RGD:734341 D RGD:7394804|PMID:23322580 20131105 RGD mRNA:decreased expression:eye, trabecular mesh (mouse) 620430 Myoc myocilin gene DOID:9282 ocular hypertension ISO RGD:737429 D RGD:7394831|PMID:20107173 20131105 RGD associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human) 620430 Myoc myocilin gene DOID:9282 ocular hypertension treatment ISO RGD:734341 D RGD:7394804|PMID:23322580 20131105 RGD 620431 Pax3 paired box 3 gene DOID:0080016 spina bifida ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3902948|PMID:6385329|PMID:12854658|PMID:17149730 620431 Pax3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:3293260|PMID:12739027|PMID:12854658 620431 Pax3 paired box 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 620431 Pax3 paired box 3 gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1351352 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:25741868 620431 Pax3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:7240710 20200812 OMIM 620431 Pax3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:12414908|PMID:1303193|PMID:1308353|PMID:1347148|PMID:1347149|PMID:16199547|PMID:18325909|PMID:1887852|PMID:20127975|PMID:20199465|PMID:20301703|PMID:20478267|PMID:21965087|PMID:23512835|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25525159|PMID:25736269|PMID:25741868|PMID:25991456|PMID:26149688|PMID:26275939|PMID:26467025|PMID:27759048|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415|PMID:30311386|PMID:30936914|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7573125|PMID:7726174|PMID:7897628|PMID:8019556|PMID:8423616|PMID:8447316|PMID:8490648|PMID:8533800|PMID:858969|PMID:8589691|PMID:8799378|PMID:8845842|PMID:8863157|PMID:9017978|PMID:9067759|PMID:9232624|PMID:9279758|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 620431 Pax3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:7240710 20180130 OMIM 620431 Pax3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 3 PMID:11683776|PMID:12949970|PMID:1536170|PMID:20127975|PMID:23512835|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:29407415|PMID:30311386|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7091186|PMID:7726174|PMID:8019556|PMID:8447316 620431 Pax3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18553554 620431 Pax3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:7240710 20130221 OMIM 620431 Pax3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:30311386|PMID:6859126|PMID:8589691|PMID:8664898|PMID:8863157|PMID:9584079|PMID:9856573 620431 Pax3 paired box 3 gene DOID:1059 intellectual disability ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18325909|PMID:25741868|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415 620431 Pax3 paired box 3 gene DOID:1115 sarcoma ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 620431 Pax3 paired box 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:8589691|PMID:8863157|PMID:9584079|PMID:9856573 620431 Pax3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:1580944|PMID:15313887 19990101 RGD DNA:translocations: (human) 620431 Pax3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:7240710 20130221 OMIM 620431 Pax3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma PMID:20199465|PMID:20478267|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:8589691|PMID:8799378|PMID:9654197 620431 Pax3 paired box 3 gene DOID:4202 brain stem glioma ISO RGD:1552573 D RGD:13702891|PMID:25330836 20180723 RGD mRNA,protein:increased expression:brain stem: 620431 Pax3 paired box 3 gene DOID:630 genetic disease ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620431 Pax3 paired box 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351352 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620431 Pax3 paired box 3 gene DOID:9004538 Hearing Loss ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 620431 Pax3 paired box 3 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 620431 Pax3 paired box 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7556916 620431 Pax3 paired box 3 gene DOID:9008681 Deafness ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 620431 Pax3 paired box 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 620431 Pax3 paired box 3 gene DOID:9009073 Diaphragmatic Hernia IEP D RGD:1580942|PMID:15616818 19990101 RGD mRNA:decreased expression:heart (rat) 620431 Pax3 paired box 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1351352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18553554 620431 Pax3 paired box 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1351352 D RGD:1580943|PMID:12949970 19990101 RGD DNA:mutations:multiple (human) 620431 Pax3 paired box 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1351352 D RGD:1599944|PMID:8589691 20070221 RGD 620431 Pax3 paired box 3 gene DOID:9258 Waardenburg's syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar Annotator: match by term: White forelock (poliosis) syndrome with multiple congenital malformations PMID:12414908|PMID:1308353|PMID:1349198|PMID:20127975|PMID:20301703|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25736269|PMID:25741868|PMID:26467025|PMID:26512583|PMID:28492532|PMID:29407415|PMID:30311386|PMID:8447316|PMID:8533800|PMID:8589691|PMID:8863157|PMID:9017978|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 620432 Myog myogenin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620432 Myog myogenin gene DOID:1540 parathyroid carcinoma ISO RGD:736712 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620432 Myog myogenin gene DOID:630 genetic disease ISO RGD:736712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620432 Myog myogenin gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:9686078|PMID:23781298 20150129 RGD 620432 Myog myogenin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736712 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620432 Myog myogenin gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:9686077|PMID:1312030 20150129 RGD 620432 Myog myogenin gene DOID:9008444 Skeletal Muscle Injuries IEP D RGD:9686134|PMID:15738284 20150202 RGD mRNA:increased expression:diaphragm 620432 Myog myogenin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736712 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620432 Myog myogenin gene DOID:9970 obesity IEP D RGD:2313320|PMID:18508911 20150202 RGD mRNA:decreased expression:plantaris 620433 Pax4 paired box 4 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11723072|PMID:15509590|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 620433 Pax4 paired box 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 620433 Pax4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620433 Pax4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:7240710 20230517 OMIM 620433 Pax4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9 PMID:15509590|PMID:17426099|PMID:25741868|PMID:28492532 620433 Pax4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:7240710 20230517 OMIM 620433 Pax4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to PMID:15509590|PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 620433 Pax4 paired box 4 gene DOID:1909 melanoma ISO RGD:1347682 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18949370 620433 Pax4 paired box 4 gene DOID:4195 hyperglycemia ISO RGD:1347682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:15509590|PMID:25741868|PMID:28492532 620433 Pax4 paired box 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347682 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620433 Pax4 paired box 4 gene DOID:630 genetic disease ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620433 Pax4 paired box 4 gene DOID:9351 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15509590|PMID:18414213|PMID:25741868|PMID:28492532 620433 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620433 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:2311632|PMID:17426099 20090727 RGD DNA:polymorphism, mutations: :p.R192H, p.R164W, IVS7-1G>A (human) 620433 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:7240710 20230517 OMIM 620433 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 620433 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus onset IMP RGD:1347682 D RGD:2311635|PMID:12604352 20090727 RGD DNA:mutation: :p.R121W (human) 620433 Pax4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:11554173 20180801 CTD CTD Direct Evidence: marker/mechanism 620433 Pax4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:2311634|PMID:15509590 20090727 RGD DNA:polymorphism: :p.R133W (human) 620433 Pax4 paired box 4 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1347682 D RGD:2311633|PMID:15834548 20090727 RGD 620434 Pax8 paired box 8 gene DOID:0050328 congenital hypothyroidism ISO RGD:730849 D RGD:1600298|PMID:9590296 20070306 RGD nongoitrous congenital hypothyroidism 2, OMIM:218700 620434 Pax8 paired box 8 gene DOID:0050328 congenital hypothyroidism ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:16763387|PMID:25146893|PMID:26362610 620434 Pax8 paired box 8 gene DOID:0050328 congenital hypothyroidism ISS RGD:730850 D RGD:13592920 20180518 MouseDO 620434 Pax8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:7240710 20130221 OMIM 620434 Pax8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 PMID:11232006|PMID:11502839|PMID:12116225|PMID:15356023|PMID:15718293|PMID:17437516|PMID:17980011|PMID:20302910|PMID:23647375|PMID:25741868|PMID:28060725|PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900|PMID:9382140|PMID:9523167|PMID:9590296 620434 Pax8 paired box 8 gene DOID:0080600 COVID-19 ISO RGD:730849 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620434 Pax8 paired box 8 gene DOID:630 genetic disease ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900 620434 Pax8 paired box 8 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 620434 Pax8 paired box 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 620434 Pax8 paired box 8 gene DOID:9970 obesity ISO RGD:730849 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1346295 D RGD:8554872 20171031 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:7240710 20160713 OMIM 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:16199547|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:21533187|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25795793|PMID:26173643|PMID:26686981|PMID:27942422|PMID:28166811|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30417923|PMID:30455982|PMID:30707178|PMID:31573083|PMID:32037394|PMID:32788663|PMID:33452774|PMID:9536098 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0080690 RASopathy ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:3490 Noonan syndrome ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:25741868|PMID:26686981|PMID:28492532|PMID:29696744|PMID:9536098 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346295 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620435 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:0060224 atrial fibrillation ISO RGD:1348590 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:10286 prostate carcinoma ISO RGD:1348590 D RGD:2293634|PMID:12180238 20080610 RGD mRNA:increased expression:prostate gland 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:10969 hemiplegia ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:1100 ovarian disease ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20146381 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:14228 oligospermia ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16483355 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:1612 breast cancer disease_progression ISO RGD:1348590 D RGD:2293635|PMID:11687975 20080610 RGD 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:2696 Leydig cell tumor ISO RGD:1348590 D RGD:2293633|PMID:16007123 20080610 RGD 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:345 uterine disease ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20146381 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:9000918 Disease Progression ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348590 D RGD:2293637|PMID:6768680 20080610 RGD associated with Breast Neoplasms;protein:increased expression:serum 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:9005147 Hydatidiform Mole ISO RGD:1348590 D RGD:2293636|PMID:2473429 20080610 RGD protein:increased expression:serum 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 620436 Cga glycoprotein hormones, alpha polypeptide gene DOID:9553 adrenal gland disease ISO RGD:1348590 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20146381 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:243048422|PMID:22444671 20230329 RGD DNA:missense mutation:CDS:c.500T>C (p.L167P) (human) 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:7240710 20141015 OMIM 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:30023290|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:630 genetic disease ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:9002100 Hyperphosphatasia with Mental Retardation Syndrome 1 ISO RGD:1342664 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:9003133 Hypertelorism ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 620437 Pigl phosphatidylinositol glycan anchor biosynthesis, class L gene DOID:9003507 Premature Birth ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature birth PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0050572 cone-rod dystrophy ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30319355 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0050795 cone dystrophy ISO RGD:1343485 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10676808|PMID:10951519|PMID:11115851|PMID:11565546|PMID:12552567|PMID:15175914|PMID:18055820|PMID:18487367|PMID:21602930|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:29178642|PMID:30718709|PMID:33546218|PMID:34048777|PMID:8554074|PMID:9618177 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1343485 D RGD:8554872 20151110 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:24824130 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1343485 D RGD:8554872 20201103 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:15024725 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:7240710 20130221 OMIM 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15175914|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18487367|PMID:20050595|PMID:20683928|PMID:21602930|PMID:23035049|PMID:23484092|PMID:23847139|PMID:24033266|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26626312|PMID:26957854|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31630094|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616|PMID:9888789 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:7240710 20130425 OMIM 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:10636733|PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15123990|PMID:15175914|PMID:15504042|PMID:16123401|PMID:16199547|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18487367|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20517349|PMID:20683928|PMID:21153841|PMID:21602930|PMID:22025579|PMID:22695961|PMID:23035049|PMID:23563732|PMID:23661368|PMID:23734073|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25616661|PMID:25741868|PMID:26047050|PMID:26100624|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26355662|PMID:26626312|PMID:27375279|PMID:27422788|PMID:27703005|PMID:27881908|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29440533|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30653986|PMID:30718709|PMID:31456290|PMID:31630094|PMID:32141364|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1343485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16272259 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1343485 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1343485 D RGD:1599624|PMID:11565546 20070208 RGD DNA:mutation:exon 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:12177 common variable immunodeficiency ISO RGD:1343485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:17964524|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:32165824|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:2729 dyskeratosis congenita ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:4448 macular degeneration ISO RGD:1343485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:630 genetic disease ISO RGD:1343485 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10951519|PMID:11328726|PMID:15024725|PMID:16199547|PMID:17964524|PMID:25741868|PMID:26047050|PMID:28492532 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:8501 fundus dystrophy ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15123990|PMID:15175914|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18487367|PMID:20050595|PMID:21602930|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:33546218|PMID:34008892|PMID:8554074|PMID:9618177 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:9000343 Vision Disorders ISO RGD:1343485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:7240710 20190911 OMIM 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I PMID:10766140|PMID:16505055|PMID:17724218|PMID:20050595|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:32821499|PMID:33109612|PMID:34008892 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:9650 pathologic nystagmus ISO RGD:1343485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17964524|PMID:25741868|PMID:28492532|PMID:33546218 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:7240710 20190315 OMIM 620438 Gucy2d guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15024725|PMID:15175914|PMID:16505055|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18487367|PMID:20050595|PMID:20683928|PMID:22695961|PMID:23035049|PMID:24033266|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:31456290|PMID:32865313|PMID:33546218|PMID:34008892|PMID:8554074|PMID:8733141|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 620439 Gucy2f guanylate cyclase 2F gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 620439 Gucy2f guanylate cyclase 2F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731765 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620439 Gucy2f guanylate cyclase 2F gene DOID:12849 autistic disorder ISO RGD:731765 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620439 Gucy2f guanylate cyclase 2F gene DOID:630 genetic disease ISO RGD:731765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620439 Gucy2f guanylate cyclase 2F gene DOID:8466 retinal degeneration ISO RGD:731766 D RGD:10045823|PMID:15718098 20150617 RGD mRNA:decreased expression:retina: 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:733226 D RGD:1358662|PMID:10624811 19990101 RGD DNA:silent mutation:cds: 267C>T (human) 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:5419 schizophrenia ISO RGD:733226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:630 genetic disease ISO RGD:733226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:670 amphetamine abuse ISO RGD:733226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:8646 substance-induced psychosis ISO RGD:733226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 62044 Htr6 5-hydroxytryptamine receptor 6 gene DOID:9008023 Memory Disorders ISO RGD:733226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19733250 620440 Cpsf4 cleavage and polyadenylation specific factor 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736724 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620440 Cpsf4 cleavage and polyadenylation specific factor 4 gene DOID:630 genetic disease ISO RGD:736724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:0050127 sinusitis ISO RGD:1353278 D RGD:5130914|PMID:19786211 20110414 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1353278 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:0080600 COVID-19 ISO RGD:1353278 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:0080600 COVID-19 severity ISO RGD:1353278 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:0080600 COVID-19 severity ISO RGD:1353278 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:0080855 Parkinsonism ISO RGD:1550761 D RGD:5683893|PMID:17258864 20111205 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:10140 dry eye syndrome ISO RGD:1353278 D RGD:5130907|PMID:20575639 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:10533 viral pneumonia ISO RGD:1353278 D RGD:5130904|PMID:20957032 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:10690 mastitis ISO RGD:1353278 D RGD:5683897|PMID:16250882 20111205 RGD associated with HIV Infections 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:1205 allergic disease ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:21625544 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1353278 D RGD:4143497|PMID:19046553 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1550761 D RGD:4892091|PMID:16988274 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1353278 D RGD:5683898|PMID:15972509 20111205 RGD mRNA, protein:increased expression:blood, 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:1485 cystic fibrosis ISO RGD:1353278 D RGD:5130902|PMID:19386685 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:1485 cystic fibrosis ISO RGD:1353278 D RGD:5130907|PMID:20575639 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:1824 status epilepticus IEP D RGD:5683875|PMID:21731074 20111201 RGD mRNA, protein:increased expression:brain 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:1936 atherosclerosis ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24370436 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:2043 hepatitis B ISO RGD:1353278 D RGD:5683873|PMID:21914058 20111201 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:2316 brain ischemia ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:2841 asthma ISO RGD:1353278 D RGD:5130915|PMID:18774390 20110414 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:2921 glomerulonephritis ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353278 D RGD:5130900|PMID:17868461 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353278 D RGD:5130901|PMID:11475557 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:37 skin disease ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:3770 pulmonary fibrosis ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17720292 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:399 tuberculosis severity HEP D RGD:41404639|PMID:31276515 20210128 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:417 autoimmune disease ISO RGD:1353278 D RGD:5683913|PMID:21169727 20111206 RGD protein:increased expression:serum 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:418 systemic scleroderma ISO RGD:1353278 D RGD:5683876|PMID:21285114 20111202 RGD protein:increased expression:serum 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:4483 rhinitis ISO RGD:1353278 D RGD:5130914|PMID:19786211 20110414 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:2307059|PMID:17898087 20111206 RGD mRNA:increased expression:glomerulus 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1353278 D RGD:5683897|PMID:16250882 20111205 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:552 pneumonia ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:630 genetic disease ISO RGD:1353278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353278 D RGD:5683896|PMID:16773571 20111205 RGD DNA:SNP:3' utr:rs1719153 (human) 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:813 septic arthritis ISO RGD:1353278 D RGD:5683892|PMID:17393419 20111205 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:874 bacterial pneumonia ISO RGD:1550761 D RGD:5130905|PMID:20483921 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9000310 Lung Injury ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9000386 Polyomavirus Infections ISO RGD:1353278 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9001542 Albuminuria ISO RGD:1353278 D RGD:5683918|PMID:21113841 20111206 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1550761 D RGD:5683877|PMID:21273392 20111202 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9002953 Escherichia Coli Infections IEP D RGD:5683919|PMID:16238536 20111206 RGD mRNA:increased expression:brain 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9004484 Sepsis severity ISO RGD:1353278 D RGD:5683911|PMID:21208283 20111206 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9004590 Acute Liver Failure ISO RGD:1353278 D RGD:14995451|PMID:12579535 20191024 RGD protein, mRNA:increased expression:serum, liver 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9004610 Acute Lung Injury IEP D RGD:6480432|PMID:21767135 20120321 RGD mRNA, protein:increased expression:lung 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9004610 Acute Lung Injury IMP D RGD:68880|PMID:10679105 20110413 RGD 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9004610 Acute Lung Injury ISO RGD:1550761 D RGD:5683874|PMID:21906407 20111201 RGD protein:increased expression:respiratory system fluid/secretion 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9005372 Inflammation ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1353278 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9007964 Arsenic Poisoning ISO RGD:1353278 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9008 psoriatic arthritis ISO RGD:1353278 D RGD:5683894|PMID:16936328 20111205 RGD protein:increased expression:serum 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:1353278 D RGD:5683895|PMID:16924394 20111205 RGD protein:increased expression:serum 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9146 visceral leishmaniasis ISO RGD:1353278 D RGD:5683905|PMID:21991751 20111206 RGD protein:increased expression:serum 620441 Ccl4 C-C motif chemokine ligand 4 gene DOID:9970 obesity IEP D RGD:5683906|PMID:21862610 20111206 RGD 620442 Pdap1 PDGFA associated protein 1 gene DOID:3070 high grade glioma severity ISO RGD:733658 D RGD:13702895|PMID:27448842 20180723 RGD 620442 Pdap1 PDGFA associated protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733658 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620442 Pdap1 PDGFA associated protein 1 gene DOID:630 genetic disease ISO RGD:733658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620443 Myo1c myosin 1C gene DOID:0060224 atrial fibrillation ISO RGD:737188 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 620443 Myo1c myosin 1C gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737188 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 620443 Myo1c myosin 1C gene DOID:630 genetic disease ISO RGD:737188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620443 Myo1c myosin 1C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620444 Hbp1 HMG-box transcription factor 1 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:733921 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: COG5-CDG 620444 Hbp1 HMG-box transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:733921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620444 Hbp1 HMG-box transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733921 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620444 Hbp1 HMG-box transcription factor 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:733921 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 620444 Hbp1 HMG-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:733921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620444 Hbp1 HMG-box transcription factor 1 gene DOID:8398 osteoarthritis ISO RGD:733921 D RGD:10402054|PMID:22586168 20151014 RGD 620445 Tgoln2 trans-golgi network protein 2 gene DOID:50 thyroid gland disease ISO RGD:1351226 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 620445 Tgoln2 trans-golgi network protein 2 gene DOID:630 genetic disease ISO RGD:1351226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620445 Tgoln2 trans-golgi network protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1624067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620446 Shc1 SHC adaptor protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 620446 Shc1 SHC adaptor protein 1 gene DOID:0050851 glomerulosclerosis ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD 620446 Shc1 SHC adaptor protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620446 Shc1 SHC adaptor protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620446 Shc1 SHC adaptor protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620446 Shc1 SHC adaptor protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620446 Shc1 SHC adaptor protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551749 D RGD:1643185|PMID:15837797 20071213 RGD protein:increased phosphorylation:neuron 620446 Shc1 SHC adaptor protein 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:1643177|PMID:15044008 20071212 RGD 620446 Shc1 SHC adaptor protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346921 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620446 Shc1 SHC adaptor protein 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551749 D RGD:1643173|PMID:17360381 20071212 RGD associated with Diabetes Mellitus, Insulin-Dependent 620446 Shc1 SHC adaptor protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1346921 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 620446 Shc1 SHC adaptor protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620446 Shc1 SHC adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1346921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620446 Shc1 SHC adaptor protein 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:1643188|PMID:15375560 20071213 RGD protein:increased expression, increased phosphorylation:hepatocyte 620446 Shc1 SHC adaptor protein 1 gene DOID:9001542 Albuminuria ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD 620446 Shc1 SHC adaptor protein 1 gene DOID:9003234 Hypertensive Nephropathy IEP D RGD:12792230|PMID:27270176 20200131 RGD protein:increased expression:kidney 620446 Shc1 SHC adaptor protein 1 gene DOID:9003234 Hypertensive Nephropathy IMP D RGD:12792230|PMID:27270176 20170313 RGD 620446 Shc1 SHC adaptor protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1346921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19168439 620446 Shc1 SHC adaptor protein 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1551749 D RGD:1643176|PMID:15998704 20071212 RGD 620446 Shc1 SHC adaptor protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346921 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:25231249|PMID:32659284 620446 Shc1 SHC adaptor protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1346921 D RGD:1643171|PMID:17986714 20071212 RGD mRNA:increased expression:adipose tissue 620446 Shc1 SHC adaptor protein 1 gene DOID:9008510 Chronic Hepatitis IEP D RGD:1643188|PMID:15375560 20071213 RGD protein:increased expression, increased phosphorylation:hepatocyte 620446 Shc1 SHC adaptor protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346921 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 620446 Shc1 SHC adaptor protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346921 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620446 Shc1 SHC adaptor protein 1 gene DOID:9452 fatty liver disease ISO RGD:1346921 D RGD:1642523|PMID:17596878 20071212 RGD associated with Obesity 620447 Chp1 calcineurin-like EF-hand protein 1 gene DOID:2717 Bloom syndrome ISO RGD:736499 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620447 Chp1 calcineurin-like EF-hand protein 1 gene DOID:9000187 Spastic Ataxia 9, Autosomal Recessive ISO RGD:736499 D RGD:7240710 20190626 OMIM 620447 Chp1 calcineurin-like EF-hand protein 1 gene DOID:9256 colorectal cancer ISO RGD:736499 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:0050465 Muir-Torre syndrome ISS RGD:732571 D RGD:13592920 20180518 MouseDO OMIM:158320 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:2289869|PMID:17548701 20080215 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:2289878|PMID:15705877 20080215 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:2289896|PMID:11839671 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:2289897|PMID:11751381 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:2301233|PMID:15154012 20081002 RGD associated with Schistosomiasis;DNA:hypermethylation:urinary bladder 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:732571 D RGD:2301232|PMID:15591090 20081002 RGD protein:decreased expression:urinary bladder 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11372 megacolon ISO RGD:1344220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:12849 autistic disorder ISO RGD:1344220 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:13938 amenorrhea ISO RGD:1344220 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:1749 squamous cell carcinoma ISO RGD:1344220 D RGD:2289871|PMID:17467893 20080215 RGD cervical squamous cell carcinoma 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:2999 granulosa cell tumor ISO RGD:1344220 D RGD:2298508|PMID:15574200 20081002 RGD DNA:hypermethylation:promoter, ovary 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3008 invasive ductal carcinoma ISO RGD:1344220 D RGD:2289894|PMID:12231533 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:303 substance-related disorder ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:305 carcinoma ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11788890 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:13792770|PMID:9850082 20180926 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:13792815|PMID:9635574 20181001 RGD DNA:loss of heterozygosity:intron: 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:4440 seminoma ISO RGD:1344220 D RGD:2289879|PMID:12379753 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:2289870|PMID:17539022 20080215 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:2289903|PMID:10530564 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:5419 schizophrenia ISO RGD:1344220 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344220 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:630 genetic disease ISO RGD:1344220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:670 amphetamine abuse ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:684 hepatocellular carcinoma IDA D RGD:632723|PMID:12112319 19990101 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9000217 Stomach Neoplasms ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12958204 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1344220 D RGD:2301235|PMID:14670177 20081002 RGD protein:decreased expression:testis 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732571 D RGD:329349307|PMID:30107138 20230504 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17548701 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344220 D RGD:2289905|PMID:9569038 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:2289871|PMID:17467893 20080215 RGD cervical squamous cell carcinoma 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:2289874|PMID:16115913 20080215 RGD associated with smoking 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms no_association ISO RGD:1344220 D RGD:2289906|PMID:9462708 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003566 Mesothelioma ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14569398|PMID:18038314 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9004643 Urologic Neoplasms ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9005172 Lung Neoplasms ISO RGD:1344220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10959838|PMID:16061637 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9005804 Vulvar Neoplasms disease_progression ISO RGD:1344220 D RGD:2301231|PMID:16608079 20081002 RGD protein:decreased expression:vulva, squamous epithelial cell 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9007188 Liver Neoplasms ISO RGD:1344220 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12112319 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344220 D RGD:2289899|PMID:10873085 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms ISO RGD:1344220 D RGD:2289898|PMID:10930803 20080218 RGD 620448 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms severity ISO RGD:1344220 D RGD:2289872|PMID:17164758 20080215 RGD 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1351073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:13792677|PMID:27256506 20180919 RGD 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:13792615|PMID:30195603 20180918 RGD 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351073 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:7240710 20210811 OMIM 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 620449 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9008342 Johnson Munson Syndrome ISO RGD:1351073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations PMID:25741868 62045 Csnk1e casein kinase 1, epsilon gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 62045 Csnk1e casein kinase 1, epsilon gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732829 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 62045 Csnk1e casein kinase 1, epsilon gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 62045 Csnk1e casein kinase 1, epsilon gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 62045 Csnk1e casein kinase 1, epsilon gene DOID:10652 Alzheimer's disease ISO RGD:732829 D RGD:10395229|PMID:10514399 20150826 RGD protein:increased expression:CA1 field of hippocampus: 62045 Csnk1e casein kinase 1, epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 62045 Csnk1e casein kinase 1, epsilon gene DOID:3008 invasive ductal carcinoma ISO RGD:732829 D RGD:2306813|PMID:14871824 20090507 RGD DNA:mutation:CDS:multiple nonsynonymous mutations (human) 62045 Csnk1e casein kinase 1, epsilon gene DOID:630 genetic disease ISO RGD:732829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620450 Spef2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:7240710 20200226 OMIM 620450 Spef2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 43 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31048344|PMID:31151990|PMID:31278745 620450 Spef2 sperm flagellar 2 gene DOID:5419 schizophrenia ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 620450 Spef2 sperm flagellar 2 gene DOID:630 genetic disease ISO RGD:1605340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620450 Spef2 sperm flagellar 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605340 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620450 Spef2 sperm flagellar 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31942643 620450 Spef2 sperm flagellar 2 gene DOID:9562 primary ciliary dyskinesia ISS RGD:1553027 D RGD:13592920 20180518 MouseDO 620451 Rhd Rh blood group, D antigen gene DOID:0050641 Rh deficiency syndrome ISO RGD:736735 D RGD:8554872 20180821 ClinVar ClinVar Annotator: match by term: RhD negative 620451 Rhd Rh blood group, D antigen gene DOID:4175 Rh isoimmunization ISO RGD:736735 D RGD:7240710 20210818 OMIM 620451 Rhd Rh blood group, D antigen gene DOID:4175 Rh isoimmunization ISO RGD:736735 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 620451 Rhd Rh blood group, D antigen gene DOID:589 congenital hemolytic anemia ISO RGD:736735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9657769 620451 Rhd Rh blood group, D antigen gene DOID:630 genetic disease ISO RGD:736735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620452 Xcl1 X-C motif chemokine ligand 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350360 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620452 Xcl1 X-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733993 D RGD:30309221|PMID:15356152 20200619 RGD mRNA:increased expression:lung (mouse) 620452 Xcl1 X-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:8693304|PMID:9717977 20140709 RGD mRNA:increased expression:glomerulus 620452 Xcl1 X-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1350360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620452 Xcl1 X-C motif chemokine ligand 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350360 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620453 Dmgdh dimethylglycine dehydrogenase gene DOID:630 genetic disease ISO RGD:731431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620453 Dmgdh dimethylglycine dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731431 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) 620453 Dmgdh dimethylglycine dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731431 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620453 Dmgdh dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:7240710 20130221 OMIM 620453 Dmgdh dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency PMID:10102904|PMID:10767172|PMID:11231903|PMID:25741868|PMID:28492532 620454 Plpp3 phospholipid phosphatase 3 gene DOID:3393 coronary artery disease ISO RGD:1604845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 620454 Plpp3 phospholipid phosphatase 3 gene DOID:630 genetic disease ISO RGD:1604845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620454 Plpp3 phospholipid phosphatase 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1604845 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 620454 Plpp3 phospholipid phosphatase 3 gene DOID:9003936 Cardiomegaly ISO RGD:1604845 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 620455 Slfn4 schlafen family member 4 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1605673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 620455 Slfn4 schlafen family member 4 gene DOID:630 genetic disease ISO RGD:1605673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620456 Lmna lamin A/C gene DOID:0014667 disease of metabolism ISO RGD:732790 D RGD:8554872 20150210 ClinVar ClinVar Annotator: match by term: Metabolic disease 620456 Lmna lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:11056513|PMID:25837155 20170303 RGD DNA:duplication:cds:c.418_438dup (human) 620456 Lmna lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016 620456 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12844477|PMID:14510863|PMID:16241930|PMID:19793595 620456 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:12791019|PMID:10655060 20170227 RGD DNA:missense mutations:cds:multiple (human) 620456 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917 620456 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mason type diabetes PMID:11102973|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17469202|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31847799|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32456328|PMID:32571898|PMID:32954377|PMID:33673806|PMID:34008892|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:35535697|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354|PMID:30765282 620456 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34638534|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050557 congenital muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:15770669|PMID:25741868|PMID:26467025|PMID:26900797|PMID:28492532|PMID:33293369 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32456328|PMID:32746448|PMID:32793522|PMID:32880476|PMID:33258288|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33422685|PMID:33458588|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:30012837|PMID:30019023|PMID:30137533|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195 620456 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9536098 620456 Lmna lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:10580070 620456 Lmna lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:12791032|PMID:25469153 20170228 RGD DNA:missense mutation:cds:p.G613A (human) 620456 Lmna lamin A/C gene DOID:0060480 left ventricular noncompaction ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:19318026|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25163546|PMID:25741868|PMID:26404900|PMID:27532257|PMID:27585670|PMID:27723096|PMID:28492532|PMID:28663758|PMID:29149195|PMID:29237675|PMID:29970176|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:32041611|PMID:32826072 620456 Lmna lamin A/C gene DOID:0060586 Noonan syndrome 8 ISO RGD:732790 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 620456 Lmna lamin A/C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:17107595|PMID:19524666|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:32041611|PMID:32376792|PMID:32793522|PMID:32880476 620456 Lmna lamin A/C gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:17107595|PMID:19524666|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:32041611|PMID:32376792|PMID:32793522|PMID:32880476 620456 Lmna lamin A/C gene DOID:0060762 restrictive dermopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16440304|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29970176|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:34999423|PMID:9536098 620456 Lmna lamin A/C gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:732790 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:16288874 620456 Lmna lamin A/C gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:23062543|PMID:23183350|PMID:24846508|PMID:25741868|PMID:28492532|PMID:28663758|PMID:30847666 620456 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 620456 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11792811|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12729796|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16636128|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31293201|PMID:31303467 620456 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:732790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:17107595|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:22326558|PMID:23183350|PMID:23328570|PMID:2338570|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:25214167|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30564623|PMID:30847666|PMID:31476771|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34999423|PMID:9536098 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:11062274|PMID:10814726 20170302 RGD DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human) 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:12791020|PMID:10080180 20170227 RGD DNA:missense mutations, nonsense mutation:cds:multiple (human) 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:12791273|PMID:17701980 20170302 RGD DNA:frameshift mutation:cds:c.625_626delA (human) 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32727917 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732791 D RGD:2306094|PMID:17446932 20170306 RGD 620456 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:7240710 20180523 OMIM 620456 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 620456 Lmna lamin A/C gene DOID:0070369 restrictive dermopathy 1 ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1 | ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14615128|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:27332903|PMID:27506821|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29970176|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:34999423|PMID:9536098 620456 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:7240710 20230505 OMIM 620456 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11799477|PMID:11897440|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:16126733|PMID:16181372|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18795223|PMID:18926329|PMID:19172989|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20848652|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32297714|PMID:32376792|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 620456 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 620456 Lmna lamin A/C gene DOID:0080334 aortic valve disease 2 ISO RGD:732790 D RGD:12791292|PMID:24560417 20170306 RGD protein:decreased expression:aorta wall, nucleus (human) 620456 Lmna lamin A/C gene DOID:0081127 mandibuloacral dysplasia ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia PMID:10739764|PMID:11503164|PMID:12075506|PMID:12788894|PMID:14627682|PMID:16364671|PMID:17848409|PMID:18604166|PMID:19764019|PMID:25324471|PMID:25741868|PMID:25823658|PMID:28492532|PMID:32041611|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34680903 620456 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12788894|PMID:17848409|PMID:19764019 620456 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:12791023|PMID:16046620 20170228 RGD DNA:missense mutation:cds:p.R527H (human) 620456 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:7240710 20130221 OMIM 620456 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12075506|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15286156|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24861648|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32456328|PMID:32475984|PMID:32727917 620456 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34680903|PMID:34768595|PMID:34999423|PMID:35535697|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732790 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 620456 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:1358482|PMID:14607793 19990101 RGD DNA:missense mutation:cds:p.R298C (human) 620456 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:7240710 20130221 OMIM 620456 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423 620456 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:21465660|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532|PMID:31263448 620456 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:33673806|PMID:34240052|PMID:8621584 620456 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:7240710 20180919 OMIM 620456 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052 620456 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249 620456 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:17250669|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195 620456 Lmna lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:29237675|PMID:29237690|PMID:29382405|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11897440|PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16715312|PMID:17107595|PMID:17612587|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18585512|PMID:18926329|PMID:19318026|PMID:19524666|PMID:19875404|PMID:21840938|PMID:21846512|PMID:23183350|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24058181|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25448463|PMID:25469153|PMID:25741868|PMID:26467025|PMID:26899768|PMID:27026223|PMID:27373676|PMID:27421120|PMID:27506821|PMID:27532257|PMID:28492532|PMID:28531892|PMID:28759816|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30765282|PMID:30847666|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31737537|PMID:31977013|PMID:31983221|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32376792|PMID:32793522|PMID:32880476|PMID:33673806|PMID:34363016 620456 Lmna lamin A/C gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:11897440|PMID:15219508|PMID:15539782|PMID:16061563|PMID:16537768|PMID:17334235|PMID:18795223|PMID:19589617|PMID:20307303|PMID:22199124|PMID:22918509|PMID:23183350|PMID:23349452|PMID:23701190|PMID:24033266|PMID:24386194|PMID:25741868|PMID:25988045|PMID:26199943|PMID:26332594|PMID:26899768|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 620456 Lmna lamin A/C gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 620456 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:12791283|PMID:24508248 20170303 RGD associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human) 620456 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:7240710 20130221 OMIM 620456 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15622532|PMID:15770669|PMID:15961312|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17881656|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22090424|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24806962|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434 620456 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34768595|PMID:34999423|PMID:35535697|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 620456 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:7240710 20141015 OMIM 620456 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14607793|PMID:14659775|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15219508|PMID:15298354|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15770669|PMID:15965218|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:17150192|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19283854|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22103509|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:0111940 immunodeficiency 42 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620456 Lmna lamin A/C gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:22331516|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30340945|PMID:30420677|PMID:34862408|PMID:35449878 620456 Lmna lamin A/C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620456 Lmna lamin A/C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620456 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31744510|PMID:32456328|PMID:8621584 620456 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31744510|PMID:32376792|PMID:32456328|PMID:32880476|PMID:8621584 620456 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556 620456 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:10754 otitis media ISS RGD:732791 D RGD:13592920 20180518 MouseDO OMIM:166760 620456 Lmna lamin A/C gene DOID:11612 polycystic ovary syndrome ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 620456 Lmna lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:1580516|PMID:12196663 19990101 RGD 620456 Lmna lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32475984|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33916827|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:732790 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:10814726|PMID:12032588|PMID:30055862 620456 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:10814726|PMID:12032588|PMID:30055862 620456 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:1580516|PMID:12196663 19990101 RGD 620456 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10655060|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15998779|PMID:16174718|PMID:16218190|PMID:16386954|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19084400|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19882644|PMID:19933576|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:2280636|PMID:22883396|PMID:22918509|PMID:23183350|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28785654|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29791652|PMID:30055862|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31383942|PMID:31829210|PMID:31857427|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32793522|PMID:34008892|PMID:8619549|PMID:9106535|PMID:9536098 620456 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26752647|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29895224|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32880476|PMID:34008892|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9536098 620456 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304 620456 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23183350|PMID:23328570|PMID:2338570|PMID:24033266|PMID:24503780|PMID:24768879|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26752647|PMID:27532257|PMID:27813223|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28790152|PMID:29693488|PMID:30326651|PMID:30402260|PMID:30564623|PMID:31476771|PMID:32880476 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:11073137|PMID:22224630 20170302 RGD DNA:missense mutations, nonsense mutations:cds:multiple (human) 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:10580070|PMID:15996213|PMID:20019332|PMID:21689390 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:2306091|PMID:18926329 20090319 RGD DNA:mutation 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32880476|PMID:32943904|PMID:33673806|PMID:34213952|PMID:8621584 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:35535697|PMID:8621584 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33673806|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732791 D RGD:2306092|PMID:18182166 20090319 RGD 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732791 D RGD:2306094|PMID:17446932 20090320 RGD associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse) 620456 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy severity ISO RGD:732790 D RGD:1580515|PMID:12628721 19990101 RGD DNA:missense mutations, deletion:cds:multiple (human) 620456 Lmna lamin A/C gene DOID:1389 polyneuropathy ISO RGD:732790 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Polyneuropathy 620456 Lmna lamin A/C gene DOID:1540 parathyroid carcinoma ISO RGD:732790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620456 Lmna lamin A/C gene DOID:224 transient cerebral ischemia IDA D RGD:2293745|PMID:17683050 20150505 RGD 620456 Lmna lamin A/C gene DOID:2349 arteriosclerosis IEP D RGD:2302364|PMID:16620292 20090319 RGD protein:increased expression:aorta 620456 Lmna lamin A/C gene DOID:2843 long QT syndrome ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 620456 Lmna lamin A/C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942 620456 Lmna lamin A/C gene DOID:3910 lung adenocarcinoma ISO RGD:732790 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:10003154|PMID:19875478 20150505 RGD DNA:missense mutations:cds:multiple 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:10003156|PMID:15286156 20150505 RGD DNA:missense mutation:exon:p.K542N (1626G>C) human 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:10003159|PMID:12768443 20150505 RGD DNA:missense mutations, silent mutation:cds:multiple 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:15726408|PMID:17469202|PMID:23217256|PMID:28229933|PMID:29703891 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:12791022|PMID:12702809 20170228 RGD DNA:silent mutation:cds:c.1824C>T (human) 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:7240710 20130221 OMIM 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:11901143|PMID:12057196|PMID:12075506|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15121795|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16965317|PMID:17274801|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22065502|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22419169|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:22918509|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23659872|PMID:23666920|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27334370|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27920058|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:34862408|PMID:34999423|PMID:35449878|PMID:9500556|PMID:9536098 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732791 D RGD:10003158|PMID:15608054 20150505 RGD 620456 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732791 D RGD:737720|PMID:12748643 20150113 RGD 620456 Lmna lamin A/C gene DOID:440 neuromuscular disease ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:15678000|PMID:16199547|PMID:17377071|PMID:18585512|PMID:18926329|PMID:19446900|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 620456 Lmna lamin A/C gene DOID:5688 Werner syndrome ISO RGD:732790 D RGD:12791031|PMID:12927431 20170228 RGD atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) 620456 Lmna lamin A/C gene DOID:574 peripheral nervous system disease ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 620456 Lmna lamin A/C gene DOID:5812 MHC class II deficiency ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620456 Lmna lamin A/C gene DOID:630 genetic disease ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587585|PMID:10655060|PMID:10739751|PMID:10908904|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12524233|PMID:12669268|PMID:12920062|PMID:14510863|PMID:14749366|PMID:15060110|PMID:15531479|PMID:16181372|PMID:16218190|PMID:16459536|PMID:17524034|PMID:18396274|PMID:19169477|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19418082|PMID:19574635|PMID:19622949|PMID:19859838|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21945321|PMID:21989830|PMID:22276265|PMID:22700598|PMID:23427149|PMID:23783098|PMID:23846499|PMID:24002959|PMID:24033266|PMID:24108105|PMID:24375749|PMID:24503780|PMID:25524705|PMID:25741868|PMID:25885670|PMID:26027246|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27504462|PMID:27532257|PMID:27841971|PMID:28492532|PMID:28641778|PMID:28751304|PMID:29438482|PMID:32012908|PMID:9500556 620456 Lmna lamin A/C gene DOID:6713 cerebrovascular disease ISO RGD:732790 D RGD:2306095|PMID:16117820 20090319 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) 620456 Lmna lamin A/C gene DOID:811 lipodystrophy ISO RGD:732790 D RGD:2306123|PMID:12524233 20090320 RGD DNA:missense mutation:cds:p.R482Q, p.R482W (human) 620456 Lmna lamin A/C gene DOID:811 lipodystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:12920062|PMID:15060110|PMID:19095983|PMID:19169477|PMID:19589617|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23666920|PMID:24033266|PMID:25327215|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29047356|PMID:29791652|PMID:30123186|PMID:30696354|PMID:31857427|PMID:32548202|PMID:32954377 620456 Lmna lamin A/C gene DOID:8472 localized scleroderma ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 620456 Lmna lamin A/C gene DOID:870 neuropathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:19589617|PMID:22331516|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:30340945|PMID:30420677|PMID:31857427|PMID:34862408|PMID:35449878 620456 Lmna lamin A/C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732791 D RGD:2306092|PMID:18182166 20090319 RGD 620456 Lmna lamin A/C gene DOID:9000067 Congenital Foot Deformities ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 620456 Lmna lamin A/C gene DOID:9000488 Progeria Syndrome, Childhood-Onset ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset PMID:11015599|PMID:11503164|PMID:11792811|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:26724531|PMID:28492532|PMID:31293201 620456 Lmna lamin A/C gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:732790 D RGD:11066902|PMID:10580070 20170228 RGD DNA:missense mutations:cds:multiple (human) 620456 Lmna lamin A/C gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:17377071|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 620456 Lmna lamin A/C gene DOID:9000808 Hypercholesterolemia ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 620456 Lmna lamin A/C gene DOID:9001502 Congenital Microtia ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microtia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 620456 Lmna lamin A/C gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:732790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 620456 Lmna lamin A/C gene DOID:9002165 Diabetic Nephropathies ISO RGD:732790 D RGD:2306095|PMID:16117820 20090319 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :1908C>T (human) 620456 Lmna lamin A/C gene DOID:9003163 Heart Block ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 620456 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:7240710 20130221 OMIM 620456 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12524233|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:15996213|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18611980|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34768595|PMID:9500556 620456 Lmna lamin A/C gene DOID:9003846 Sinoatrial Block ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 620456 Lmna lamin A/C gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:23703017|PMID:25256213|PMID:25481314|PMID:28492532 620456 Lmna lamin A/C gene DOID:9004795 Congenital Hand Deformities ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 620456 Lmna lamin A/C gene DOID:9005141 Ventricular Tachycardia ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 620456 Lmna lamin A/C gene DOID:9006138 Laminopathies ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laminopathies | ClinVar Annotator: match by term: Laminopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12032588|PMID:12524233|PMID:12647844|PMID:12927424|PMID:14684700|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17893350|PMID:18551513|PMID:18564364|PMID:18728124|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20886652|PMID:21632249|PMID:22224630|PMID:22266370|PMID:22464770|PMID:22700598|PMID:23183350|PMID:23313286|PMID:23427149|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24656463|PMID:24806962|PMID:24846508|PMID:25637381|PMID:25741868|PMID:26098624|PMID:26662654|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:28641778|PMID:28679633|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29893365|PMID:29943882|PMID:30007954|PMID:30165862|PMID:30287275|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31447099|PMID:31829210|PMID:31836692|PMID:32041611|PMID:32155092|PMID:33673806 620456 Lmna lamin A/C gene DOID:9006646 Metabolic Syndrome ISO RGD:732790 D RGD:2306121|PMID:15205219 20090320 RGD DNA:SNP: :c.138747C>T (human) 620456 Lmna lamin A/C gene DOID:9007661 Dwarfism ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29791652|PMID:31857427 620456 Lmna lamin A/C gene DOID:9007692 Insulin Resistance ISO RGD:732790 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 620456 Lmna lamin A/C gene DOID:9007820 Sudden Death ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10814726|PMID:12628721|PMID:12673789|PMID:12920062|PMID:15053843|PMID:16386954|PMID:17136397|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:21632249|PMID:21840938|PMID:23142632|PMID:23183350|PMID:24503780|PMID:24990833|PMID:25741868|PMID:26443318|PMID:27220833|PMID:28492532|PMID:29693488|PMID:29895224|PMID:30055862|PMID:8619549|PMID:9106535 620456 Lmna lamin A/C gene DOID:9007925 Sudden Cardiac Death ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 620456 Lmna lamin A/C gene DOID:9007925 Sudden Cardiac Death ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:17711925|PMID:25741868|PMID:28492532 620456 Lmna lamin A/C gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 620456 Lmna lamin A/C gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:732790 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 620456 Lmna lamin A/C gene DOID:9164 achalasia ISS RGD:732791 D RGD:13592920 20180518 MouseDO OMIM:200400 620456 Lmna lamin A/C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732790 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620456 Lmna lamin A/C gene DOID:9351 diabetes mellitus ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11792809|PMID:12057196|PMID:12524233|PMID:12647844|PMID:12927424|PMID:15060110|PMID:15219508|PMID:15770669|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16585054|PMID:17893350|PMID:18035086|PMID:18478590|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21535365|PMID:21831885|PMID:21980471|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22355414|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23313286|PMID:23349452|PMID:23427149|PMID:23853504|PMID:23861362|PMID:24033266|PMID:24080738|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25873806|PMID:26467025|PMID:26498160|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27532257|PMID:27896284|PMID:28087566|PMID:28492532|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28701371|PMID:28807990|PMID:29237675|PMID:29952368|PMID:30287275|PMID:30420677|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31744510|PMID:31836692|PMID:32041611|PMID:32818388|PMID:33407844 620456 Lmna lamin A/C gene DOID:9352 type 2 diabetes mellitus ISO RGD:732790 D RGD:1624985|PMID:17327437 20070515 RGD DNA:SNPs 620456 Lmna lamin A/C gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732790 D RGD:1624984|PMID:17327461 20070515 RGD DNA:SNPs 620456 Lmna lamin A/C gene DOID:9884 muscular dystrophy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10080180|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11731280|PMID:11792809|PMID:11792810|PMID:12032588|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12920062|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15148145|PMID:15372542|PMID:15744034|PMID:16218190|PMID:16386954|PMID:17136397|PMID:17377071|PMID:17967828|PMID:18035086|PMID:18035816|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18646565|PMID:19070492|PMID:19524666|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21179469|PMID:21520333|PMID:21632249|PMID:21818408|PMID:21840938|PMID:21970986|PMID:22326558|PMID:22883396|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23427149|PMID:23990565|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24990833|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26443318|PMID:26467025|PMID:26575312|PMID:27034135|PMID:27220833|PMID:27461183|PMID:27673727|PMID:27708273|PMID:27854218|PMID:28492532|PMID:29057633|PMID:29693488|PMID:29895224|PMID:29907918|PMID:30055862|PMID:32571898|PMID:34008892|PMID:8619549|PMID:9106535 620457 Stk17b serine/threonine kinase 17b gene DOID:630 genetic disease ISO RGD:732463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620457 Stk17b serine/threonine kinase 17b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732463 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0080745 polymyositis ISO RGD:735910 D RGD:9491763|PMID:22394569 20140910 RGD protein:expression:serum 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0080855 Parkinsonism IEP D RGD:4891964|PMID:19368990 20110125 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10223 dermatomyositis ISO RGD:735910 D RGD:9491763|PMID:22394569 20140910 RGD protein:expression:serum 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:731691 D RGD:4891897|PMID:16113250 20110119 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:735910 D RGD:4140458|PMID:20696083 20110119 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10762 portal hypertension IEP D RGD:9491791|PMID:21347560 20140912 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:735910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:13141 uveitis IEP D RGD:4891945|PMID:19648777 20110124 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1679 cystitis IEP D RGD:4891972|PMID:16651033 20110125 RGD protein:increased expression:urinary bladder urothelium 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1824 status epilepticus treatment IMP D RGD:9491789|PMID:21481949 20140912 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:224 transient cerebral ischemia IEP D RGD:9491776|PMID:24447880 20140911 RGD protein:decreased expression:hippocampus 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2527 nephrosis IEP D RGD:4891946|PMID:19590241 20110124 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:735910 D RGD:4891906|PMID:14657873 20110119 RGD protein:increased expression:plasma 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2913 acute pancreatitis treatment IMP D RGD:9491790|PMID:22213034 20140912 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis IEP D RGD:4891995|PMID:14605272 20110126 RGD mRNA, protein:increased expression:glomerulus, urine 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:326 ischemia IDA D RGD:4892022|PMID:18006432 20110127 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:3310 atopic dermatitis ISO RGD:735910 D RGD:9491761|PMID:15131578 20140910 RGD protein:increased expression:serum 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:418 systemic scleroderma ISO RGD:735910 D RGD:4891898|PMID:15608300 20110119 RGD protein:increased expression:serum 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:735910 D RGD:4891906|PMID:14657873 20110119 RGD protein:increased expression:plasma 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:4891946|PMID:19590241 20110124 RGD mRNA, protein:increased expression:glomerulus 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:5154 borna disease IEP D RGD:4891998|PMID:12053272 20110126 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:735910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:735910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension IEP D RGD:4891889|PMID:18630689 20110119 RGD mRNA, protein:increased expression:lung 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:4891883|PMID:20869263 20110119 RGD associated with Heart Defects, Congenital 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:4891887|PMID:19948918 20110119 RGD protein:increased expression:lung 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:649 prion disease IEP D RGD:4892001|PMID:11870871 20110126 RGD protein:increased expression:astrocyte 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735910 D RGD:4892002|PMID:11465708 20110126 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:820 myocarditis IEP D RGD:4891990|PMID:16018993 20110126 RGD mRNA:increased expression:cardiac muscle cell 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:850 lung disease IEP D RGD:4891892|PMID:17302066 20110119 RGD Acute Lung Injury associated with Endotoxemia;mRNA:increased expression:lung 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:8515 Cor pulmonale ISO RGD:735910 D RGD:4143386|PMID:20669672 20110119 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:735910 D RGD:11538286|PMID:26615570 20191112 RGD protein:decreased expression:plasma: 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:900 hepatopulmonary syndrome IEP D RGD:9491778|PMID:22659346 20140911 RGD protein:increased expression:lung, plasma 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9000598 Cranial Nerve Injuries IEP D RGD:4891994|PMID:15153618 20110126 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia IDA D RGD:2304251|PMID:19249394 20110125 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia treatment IEP D RGD:9491779|PMID:22647647 20140911 RGD associated with Arthritis, Experimental 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:4892002|PMID:11465708 20110126 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002699 Periapical Diseases IEP D RGD:9491793|PMID:23829599 20140912 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4891973|PMID:16053521 20110125 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4891956|PMID:19563789 20110125 RGD mRNA, protein:increased expression:brain 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9004538 Hearing Loss ISO RGD:731691 D RGD:9491762|PMID:24781382 20140910 RGD mRNA, protein:altered expression:cochlea 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005070 Microscopic Polyangiitis severity ISO RGD:735910 D RGD:9491765|PMID:19327232 20140910 RGD protein:increased expression:serum 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4891992|PMID:15153757 20110126 RGD mRNA:increased expression:kidney 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005647 Experimental Autoimmune Uveitis IEP D RGD:9479740|PMID:16030495 20140905 RGD mRNA, protein:increased expression:iris, ciliary body, aqueous humor 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis IEP D RGD:9491783|PMID:12028445 20141015 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia IEP D RGD:4891965|PMID:19282612 20110125 RGD protein:increased expression:atrium endocardium 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9006086 Intervertebral Disc Displacement IEP D RGD:4891907|PMID:21224760 20110119 RGD mRNA, protein:increased expression:spinal cord 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:4891968|PMID:18448252 20110125 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735910 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:731691 D RGD:4891886|PMID:20053825 20110119 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9477 pulmonary embolism treatment IEP D RGD:9491777|PMID:23578461 20140911 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:731691 D RGD:4891888|PMID:18772344 20110119 RGD 620458 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9810 polyarteritis nodosa ISO RGD:735910 D RGD:9068463|PMID:23470165 20140819 RGD protein:increased expression:serum 62046 Thbs4 thrombospondin 4 gene DOID:10487 Hirschsprung's disease ISO RGD:735475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 62046 Thbs4 thrombospondin 4 gene DOID:630 genetic disease ISO RGD:735475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62046 Thbs4 thrombospondin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735475 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737511 D RGD:40902998|PMID:22125642 20201222 RGD 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:0050855 renal fibrosis treatment ISO RGD:737511 D RGD:38599161|PMID:24108235 20200911 RGD associated with primary hyperaldosteronism 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732787 D RGD:737766|PMID:11317351 19990101 RGD DNA:mutations:multiple (human) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1074 kidney failure severity IEP D RGD:38599007|PMID:18346151 20200908 RGD protein:decreased expression:kidney (rat) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:10976 membranous glomerulonephritis IEP D RGD:1598706|PMID:15882266 20061214 RGD 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISO RGD:737511 D RGD:38599005|PMID:22493483 20200908 RGD mRNA,protein:decreased expression:podocyte (mouse) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISS RGD:737511 D RGD:13592920 20180518 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome treatment IEP D RGD:1598707|PMID:15942045 20061214 RGD 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732787 D RGD:15023481|PMID:30900988 20210819 RGD protein:decreased expression:kidney,renal glomerulus (human) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis disease_progression ISO RGD:732787 D RGD:38549367|PMID:21414970 20200831 RGD mRNA:increased expression:urine (human) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:576 proteinuria ISO RGD:737511 D RGD:737765|PMID:12039968 19990101 RGD 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:783 end stage renal disease disease_progression IEP D RGD:38599006|PMID:19389856 20200908 RGD mRNA;increased expression:urine (rat) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:784 chronic kidney disease severity ISO RGD:732787 D RGD:38549368|PMID:30133147 20200831 RGD mRNA:increased expression:urine (human) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:784 chronic kidney disease treatment ISO RGD:732787 D RGD:155631310|PMID:33298161 20221101 RGD human cells in rat model 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies ISO RGD:737511 D RGD:7241083|PMID:21617141 20200908 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:kidney (mouse) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:38596322|PMID:17624267 20200903 RGD associated with Diabetes Mellitus, Experimental 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737511 D RGD:38596325|PMID:30862474 20200903 RGD 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737511 D RGD:38599008|PMID:24173355 20200908 RGD associated with Diabetes Mellitus, Experimental 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9004797 Fetal Nutrition Disorders IEP D RGD:155882570|PMID:23977013 20230130 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:38599163|PMID:21876538 20200911 RGD mRNA, protein:altered expression:glomerulus (rat) 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9008782 AIDS-Associated Nephropathy treatment ISO RGD:737511 D RGD:38596324|PMID:19188342 20200903 RGD 620460 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9008782 AIDS-Associated Nephropathy treatment ISO RGD:737511 D RGD:38599164|PMID:17229913 20200911 RGD 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21171529|PMID:24509478 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:7240710 20160316 OMIM 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11733557|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12608558|PMID:12644922|PMID:12649741|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15015071|PMID:15042551|PMID:15059485|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15322893|PMID:15327385|PMID:15496146|PMID:15504144|PMID:15769810|PMID:15780077|PMID:15817495|PMID:15954915|PMID:15968559|PMID:16199547|PMID:16286890|PMID:16291839|PMID:16354237|PMID:16481888|PMID:16721582|PMID:16810518|PMID:16898497|PMID:16900088|PMID:17109732|PMID:17216259|PMID:17218332|PMID:17371932|PMID:17576681|PMID:17699384|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18380020|PMID:18443213|PMID:18499321|PMID:18596732|PMID:18683072|PMID:18709391|PMID:18726620|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:19812541|PMID:19876656|PMID:20001346|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21125408|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24033266|PMID:24072147|PMID:24089165|PMID:24227627|PMID:24413855|PMID:24500309|PMID:24509478|PMID:24511133|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25060053|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25720465|PMID:25741868|PMID:25852895|PMID:25903641|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:26594346|PMID:26668027|PMID:26820844|PMID:27885584|PMID:28117080|PMID:28204945|PMID:28385484|PMID:28476686|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30013592|PMID:30241959|PMID:30260545|PMID:30295827|PMID:30348286|PMID:30406062|PMID:30450462|PMID:30609409|PMID:30655312|PMID:30721404|PMID:31027891|PMID:31308032|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:32604935|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695|PMID:8606597|PMID:9536098 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:736986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11805168|PMID:12464671|PMID:12644922|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15264208|PMID:15496146|PMID:15769810|PMID:16291839|PMID:16354237|PMID:16721582|PMID:16810518|PMID:16898497|PMID:17109732|PMID:17899208|PMID:18216321|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30609409|PMID:32129207|PMID:32604935|PMID:33532864|PMID:8589695 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:10976 membranous glomerulonephritis IDA D RGD:1598706|PMID:15882266 20061214 RGD 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome ISO RGD:736986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16898497 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12464671|PMID:12649741|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18499321|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:25852895|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:28385484|PMID:28492532|PMID:28529802|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome treatment IEP D RGD:1598707|PMID:15942045 20160302 RGD 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15942677 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12644922|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15954915|PMID:15968559|PMID:16286890|PMID:16291839|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17109732|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18683072|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19406966|PMID:19520069|PMID:19812541|PMID:20333530|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24969201|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:27885584|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1540 parathyroid carcinoma ISO RGD:736986 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:2527 nephrosis ISO RGD:736986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:2590 familial nephrotic syndrome ISO RGD:736986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nephrotic syndrome PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:557 kidney disease ISO RGD:736986 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:576 proteinuria IDA D RGD:1598706|PMID:15882266 20061214 RGD 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:576 proteinuria ISO RGD:736986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:11805166|PMID:11854170|PMID:12464671|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:15504144|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:630 genetic disease ISO RGD:736986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:784 chronic kidney disease ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12649741|PMID:14570703|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:17371932|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18823551|PMID:19371226|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:23242530|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25741868|PMID:25852895|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29982877|PMID:30655312|PMID:32129207|PMID:32581362|PMID:8589695 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9001542 Albuminuria ISO RGD:736986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9004797 Fetal Nutrition Disorders IEP D RGD:155882570|PMID:23977013 20230130 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736986 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 620461 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736986 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1344275 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344275 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1344275 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1344275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1344275 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620462 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1344275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620463 Mcam melanoma cell adhesion molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:0080690 RASopathy ISO RGD:732868 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 620463 Mcam melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma ISO RGD:732868 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 620463 Mcam melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma disease_progression IEP D RGD:7364782|PMID:23621518 20130927 RGD 620463 Mcam melanoma cell adhesion molecule gene DOID:1875 impotence IEP D RGD:7364777|PMID:24023647 20130926 RGD protein:decreased expression:penis erectile tissue 620463 Mcam melanoma cell adhesion molecule gene DOID:2377 multiple sclerosis ISO RGD:732868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23595028 620463 Mcam melanoma cell adhesion molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732868 D RGD:7364780|PMID:23649916 20130927 RGD 620463 Mcam melanoma cell adhesion molecule gene DOID:438 autoimmune disease of the nervous system ISO RGD:732868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23595028 620463 Mcam melanoma cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:732868 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620463 Mcam melanoma cell adhesion molecule gene DOID:6039 uveal melanoma disease_progression ISO RGD:732868 D RGD:7364775|PMID:19958117 20130926 RGD 620463 Mcam melanoma cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620463 Mcam melanoma cell adhesion molecule gene DOID:9001579 Neurogenic Inflammation ISO RGD:732868 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23595028 620463 Mcam melanoma cell adhesion molecule gene DOID:9001834 Peritoneal Neoplasms ISO RGD:732868 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 620463 Mcam melanoma cell adhesion molecule gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:7364787|PMID:10076889 20130927 RGD 620463 Mcam melanoma cell adhesion molecule gene DOID:9002884 Emphysema IEP D RGD:7364780|PMID:23649916 20130927 RGD protein:increased expression:respiratory system fluid/secretion 620463 Mcam melanoma cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732868 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620463 Mcam melanoma cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:732868 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620464 Cep78 centrosomal protein 78 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 620464 Cep78 centrosomal protein 78 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 620464 Cep78 centrosomal protein 78 gene DOID:0080600 COVID-19 ISO RGD:1346976 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620464 Cep78 centrosomal protein 78 gene DOID:10003 sensorineural hearing loss ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 620464 Cep78 centrosomal protein 78 gene DOID:630 genetic disease ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620464 Cep78 centrosomal protein 78 gene DOID:8501 fundus dystrophy ISO RGD:1346976 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 620464 Cep78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:7240710 20220105 OMIM 620464 Cep78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:31999394|PMID:34259627|PMID:9536098 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0050700 cardiomyopathy ISS RGD:732177 D RGD:13592920 20220428 MouseDO 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:732176 D RGD:152023632|PMID:27544389 20220425 RGD protein:increased expression: mucosa-associated lymphoid tissue (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria treatment ISO RGD:732176 D RGD:11352266|PMID:22206707 20160713 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23734232 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:7240710 20130221 OMIM 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:734860|PMID:12692554 19990101 RGD DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:12692554|PMID:15026312|PMID:15536153|PMID:16275383|PMID:16899028|PMID:17803866|PMID:18436740|PMID:19043667|PMID:19476565|PMID:19956569|PMID:20472031|PMID:20736454|PMID:21070597|PMID:22748845|PMID:23009155|PMID:23794067|PMID:25571909|PMID:25662009|PMID:25741868|PMID:28353164|PMID:28492532|PMID:29659363|PMID:30819232|PMID:31313072|PMID:31493092 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:732176 D RGD:11352304|PMID:24711662 20160713 RGD DNA:mutation:cds:1013C>G(p.S338X)(human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732176 D RGD:151893518|PMID:18803056 20220422 RGD mRNA,protein:increased expression:colorectum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0080600 COVID-19 ISO RGD:732176 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0111974 immunodeficiency 59 ISO RGD:732176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality PMID:25741868 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10283 prostate cancer ameliorates ISO RGD:732176 D RGD:152025215|PMID:30537000 20220429 RGD human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:732176 D RGD:152023648|PMID:27007162 20220426 RGD human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:151665321|PMID:28544312 20220318 RGD human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:152023624|PMID:21633638 20220422 RGD mRNA:increased expression:stomach (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer exacerbates ISO RGD:732176 D RGD:152023608|PMID:19148483 20220422 RGD protein:increased expression:stomach (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer exacerbates ISO RGD:732176 D RGD:152023660|PMID:25368239 20220426 RGD protein:increased expression:stomach (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:11476 osteoporosis ISO RGD:732176 D RGD:14700776|PMID:29882473 20190814 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:11664 nephrosclerosis ISO RGD:732176 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:1993 rectum cancer exacerbates ISO RGD:732176 D RGD:152023614|PMID:24375277 20220422 RGD protein:increased expression:rectum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:2596 larynx cancer exacerbates ISO RGD:732176 D RGD:152177474|PMID:23259294 20220511 RGD protein:increased expression: mucosa of larynx (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:732176 D RGD:152025548|PMID:16494043 20220506 RGD protein:increased expression:larynx (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3328 temporal lobe epilepsy IMP D RGD:13463105|PMID:28104461 20171212 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3347 osteosarcoma ameliorates ISO RGD:732176 D RGD:152025557|PMID:31571016 20220506 RGD human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732176 D RGD:152023646|PMID:17171785 20220426 RGD protein:increased expression:esophagus squamous epithelium (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3753 Hermansky-Pudlak syndrome disease_progression ISO RGD:732176 D RGD:11352293|PMID:25347450 20160713 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732176 D RGD:152023747|PMID:22977534 20220427 RGD protein:increased expression:lung (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:152023735|PMID:30103827 20220427 RGD protein:increased expression:lung (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:152177480|PMID:19716197 20220511 RGD mRNA:increased expression:lung (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:732176 D RGD:11352272|PMID:21448932 20160713 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732176 D RGD:155804290|PMID:29218250 20230116 RGD mRNA:increased expression:kidney: 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:732176 D RGD:152023620|PMID:28772134 20220422 RGD protein:increased expression:saliva-secreting gland (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:732176 D RGD:155641257|PMID:27388534 20221107 RGD mRNA,protein:increased expression:temporal lobe : 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:5603 T-cell acute lymphoblastic leukemia treatment ISO RGD:732176 D RGD:11352292|PMID:26931577 20160713 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:6000 congestive heart failure ISS RGD:732177 D RGD:13592920 20220428 MouseDO 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:612 primary immunodeficiency disease ISO RGD:732176 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:615 leukopenia treatment ISO RGD:732176 D RGD:6480654|PMID:21890643 20120329 RGD associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:732176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:6432 pulmonary hypertension treatment IMP D RGD:6480473|PMID:21294880 20200721 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504|PMID:26387944 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732176 D RGD:9068941 20220318 RGD protein:increased expression:liver (human) PMID:30034941|REF_RGD_ID:151665331 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732176 D RGD:151665327|PMID:33574707 20220318 RGD human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:732176 D RGD:6480657|PMID:21087446 20120329 RGD mRNA:increased expression:peripheral blood immature plasma cells (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732176 D RGD:151893515|PMID:16000558 20220422 RGD associated with nasopharynx carcinoma; protein:increased expression:lymph node (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:152177476|PMID:28000861 20220511 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:152177478|PMID:18487224 20220511 RGD associated with Otorhinolaryngologic Neoplasms;mRNA,protein:increased expression:Laryngeal and hypopharyngeal tissue (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:152177479|PMID:16322285 20220511 RGD associated with lung non-small cell carcinoma;mRNA,protein:increased expression:lung (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:151708730|PMID:32037613 20220427 RGD associated with lung cancer; human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:152023741|PMID:25504108 20220427 RGD human cells in mouse model;associated with lung cancer 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:152177475|PMID:17634424 20220511 RGD associated with oral squamous cell carcinoma 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732177 D RGD:152025556|PMID:16230077 20220506 RGD associated with pancreatic cancer 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732176 D RGD:152023745|PMID:24932250 20220427 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732176 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9001004 Chronic Periodontitis ISO RGD:732176 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:increased expression:gingival tissues (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury IMP D RGD:12910551|PMID:27760212 20170620 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia IMP D RGD:13838657|PMID:28638088 20190108 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13838658|PMID:30142543 20190108 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002676 Cerebral Hemorrhage treatment IMP D RGD:11352686|PMID:24955809 20160715 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9004771 Vascular Remodeling treatment IMP D RGD:6480473|PMID:21294880 20210816 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:732176 D RGD:11530617|PMID:26259237 20220422 RGD protein:increased expression:colon (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9005968 Neuralgia ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17292584 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006102 Right Ventricular Hypertrophy treatment IMP D RGD:6480473|PMID:21294880 20210816 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:13825150|PMID:29073721 20181119 RGD protein:increased expression:kidney 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:151893289|PMID:30789971 20220420 RGD associated with colorectal cancer; human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:152023643|PMID:29436696 20220426 RGD human cells in mouse model; associated with colorectal cancer 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006796 Gastrointestinal Neoplasms ameliorates ISO RGD:732176 D RGD:152023654|PMID:15994964 20220426 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9007482 Bone Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:19508713|REF_RGD_ID:152023653 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23743303 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain IEP D RGD:13463594|PMID:28108674 20171220 RGD mRNA,protein:increased expression:spinal cord: 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain IMP D RGD:13838657|PMID:28638088 20190108 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008763 Femoral Fractures IMP D RGD:11352664|PMID:25181476 20160714 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732176 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:151665329|PMID:31938138 20220419 RGD associated with colorectal cancer; human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:151893515|PMID:16000558 20220422 RGD associated with nasopharynx carcinoma; human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:152023752|PMID:26498029 20220428 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:152177473|PMID:18071913 20220511 RGD associated with osteosarcoma and melanoma 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:732176 D RGD:11352273|PMID:24035716 20160713 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732176 D RGD:11352265|PMID:26031918 20160713 RGD 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:151665323|PMID:32110952 20220318 RGD mRNA:increased expression:colonic epithelium (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:151708721|PMID:29481800 20220415 RGD human cells in mouse model; protein:increased expression:colorectum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732176 D RGD:151893498|PMID:33617803 20220422 RGD human cells in mouse model 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:151665332|PMID:33429333 20220318 RGD mRNA:increased expression:colorectum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:151708720|PMID:27330310 20220419 RGD protein:increased expression:blood serum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:151709000|PMID:28739729 20220419 RGD mRNA:increased expression:colorectum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732176 D RGD:151893497|PMID:29719205 20220421 RGD mRNA,protein:increased expression:colon (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:151708726|PMID:28515923 20220415 RGD protein:increased expression:colorectum (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732176 D RGD:152023644|PMID:26611644 20220426 RGD mRNA:increased expression:nasopharynx (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:732176 D RGD:152177484|PMID:15978137 20220512 RGD protein:increased expression:nasopharynx (human) 620465 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9970 obesity ISO RGD:732177 D RGD:13673852|PMID:25016030 20180801 RGD 620466 Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:7240710 20141015 OMIM 620466 Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 PMID:21092922|PMID:23806086|PMID:24088041|PMID:24958424|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30828585|PMID:30924036|PMID:32531460 620466 Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 gene DOID:1289 neurodegenerative disease IEP D RGD:724676|PMID:12429238 19990101 RGD 620466 Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 gene DOID:5844 myocardial infarction IEP D RGD:1580021|PMID:14732363 19990101 RGD 620466 Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 gene DOID:630 genetic disease ISO RGD:1344147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620466 Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344147 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:733917 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:31474318|PMID:33894126|PMID:3812597 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:2785 Dandy-Walker syndrome ISO RGD:733917 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318|PMID:33894126|PMID:3812597 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:630 genetic disease ISO RGD:733917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:7240710 20210728 OMIM 620467 Dpysl5 dihydropyrimidinase-like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868|PMID:31474318|PMID:33894126|PMID:3812597 620469 Septin7 septin 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604654 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620469 Septin7 septin 7 gene DOID:630 genetic disease ISO RGD:1604654 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732339 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:305 carcinoma ISO RGD:732339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:3347 osteosarcoma ISO RGD:732339 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:732339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:630 genetic disease ISO RGD:732339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 62047 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620470 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:11054 urinary bladder cancer ISO RGD:734292 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 620470 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:4450 renal cell carcinoma ISO RGD:734292 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 620470 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:4905 pancreatic carcinoma ISO RGD:734292 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 620470 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:630 genetic disease ISO RGD:734292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620470 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:684 hepatocellular carcinoma ISO RGD:734292 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 620470 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:9119 acute myeloid leukemia ISO RGD:734292 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 620471 Sox5 SRY-box transcription factor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1603322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 620471 Sox5 SRY-box transcription factor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1603322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620471 Sox5 SRY-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1603322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 620471 Sox5 SRY-box transcription factor 5 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1603322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868 620471 Sox5 SRY-box transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1603322 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28708303 620471 Sox5 SRY-box transcription factor 5 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1603322 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tourette syndrome 620471 Sox5 SRY-box transcription factor 5 gene DOID:540 strabismus ISO RGD:1603322 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 620471 Sox5 SRY-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1603322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31578471 620471 Sox5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:7240710 20190315 OMIM 620471 Sox5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lamb-Shaffer syndrome PMID:22290657|PMID:23220431|PMID:23498568|PMID:25741868|PMID:26111154|PMID:28708303|PMID:31578471|PMID:32165824 620471 Sox5 SRY-box transcription factor 5 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603322 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 620471 Sox5 SRY-box transcription factor 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603322 D RGD:8554872 20170221 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 620471 Sox5 SRY-box transcription factor 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1603322 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 620471 Sox5 SRY-box transcription factor 5 gene DOID:9008582 Developmental Disease ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620472 Rwdd3 RWD domain containing 3 gene DOID:630 genetic disease ISO RGD:1314557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620473 Slc9a5 solute carrier family 9 member A5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 620473 Slc9a5 solute carrier family 9 member A5 gene DOID:630 genetic disease ISO RGD:732088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620473 Slc9a5 solute carrier family 9 member A5 gene DOID:684 hepatocellular carcinoma ISO RGD:732088 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 620473 Slc9a5 solute carrier family 9 member A5 gene DOID:783 end stage renal disease resistance ISO RGD:732088 D RGD:1643221|PMID:10642288 20071217 RGD DNA:polymorphism 620474 Sox9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:7240710 20130425 OMIM 620474 Sox9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia PMID:10951468|PMID:11323423|PMID:11371614|PMID:12783851|PMID:12810722|PMID:15300742|PMID:15806394|PMID:16199547|PMID:17576681|PMID:1809232|PMID:19033726|PMID:19449405|PMID:19921652|PMID:20301724|PMID:20513132|PMID:21218044|PMID:21373255|PMID:21412441|PMID:21614988|PMID:23564514|PMID:24038782|PMID:24451061|PMID:25741868|PMID:25983619|PMID:26078652|PMID:26633542|PMID:26740947|PMID:27899157|PMID:28166811|PMID:28492532|PMID:29542186|PMID:31389106|PMID:32381727|PMID:32595695|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675|PMID:9536098 620474 Sox9 SRY-box transcription factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 620474 Sox9 SRY-box transcription factor 9 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322513 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 620474 Sox9 SRY-box transcription factor 9 gene DOID:0111763 46,XX sex reversal 2 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 2 PMID:21208124|PMID:22051515 620474 Sox9 SRY-box transcription factor 9 gene DOID:0111775 46,XY sex reversal 10 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 10 PMID:22051515|PMID:25604083|PMID:567843|PMID:6620326 620474 Sox9 SRY-box transcription factor 9 gene DOID:10283 prostate cancer ISO RGD:1322513 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620474 Sox9 SRY-box transcription factor 9 gene DOID:1324 lung cancer ISO RGD:1322513 D RGD:151665930|PMID:31221478 20220406 RGD mRNA:increased expression:lung 620474 Sox9 SRY-box transcription factor 9 gene DOID:1324 lung cancer disease_progression ISO RGD:1322513 D RGD:151665930|PMID:31221478 20220406 RGD 620474 Sox9 SRY-box transcription factor 9 gene DOID:305 carcinoma ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620474 Sox9 SRY-box transcription factor 9 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1322513 D RGD:151665930|PMID:31221478 20220406 RGD 620474 Sox9 SRY-box transcription factor 9 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19234473 620474 Sox9 SRY-box transcription factor 9 gene DOID:630 genetic disease ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446171|PMID:10951468|PMID:12161603|PMID:12783851|PMID:19033726|PMID:20513132|PMID:23551858|PMID:24038782|PMID:25741868|PMID:28492532|PMID:9066880 620474 Sox9 SRY-box transcription factor 9 gene DOID:65 connective tissue disease ISO RGD:1322513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:15806394|PMID:1809232|PMID:20301724|PMID:25741868|PMID:28492532|PMID:8001137|PMID:9002675 620474 Sox9 SRY-box transcription factor 9 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620474 Sox9 SRY-box transcription factor 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322513 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 620474 Sox9 SRY-box transcription factor 9 gene DOID:9002589 Bone Fractures IEP D RGD:11252151|PMID:21252473 20160627 RGD 620474 Sox9 SRY-box transcription factor 9 gene DOID:9003184 Campomelic Dysplasia with Autosomal Sex Reversal ISO RGD:1322513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal PMID:11076045|PMID:11323423|PMID:12810722|PMID:15806394|PMID:1809232|PMID:20301724|PMID:21412441|PMID:25741868|PMID:26078652|PMID:26633542|PMID:28492532|PMID:31389106|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675 620474 Sox9 SRY-box transcription factor 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322513 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 620474 Sox9 SRY-box transcription factor 9 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 620474 Sox9 SRY-box transcription factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1322513 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 620474 Sox9 SRY-box transcription factor 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 620474 Sox9 SRY-box transcription factor 9 gene DOID:9006314 Bent Bone Dysplasia Syndrome ISO RGD:1322513 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia PMID:25741868 620474 Sox9 SRY-box transcription factor 9 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11807034 620474 Sox9 SRY-box transcription factor 9 gene DOID:9256 colorectal cancer ISO RGD:1322513 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:0050830 peripheral artery disease ISO RGD:1348310 D RGD:10448273|PMID:21468772 20151204 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:0060001 withdrawal disorder ISO RGD:1348310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:11981 morbid obesity ISO RGD:1348310 D RGD:1642381|PMID:15855352 20070913 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:12858 Huntington's disease onset ISO RGD:1348310 D RGD:10431606|PMID:24121255 20151203 RGD DNA:SNP: :rs2234759 (human) 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:1574 alcohol use disorder ISO RGD:1348310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:1596 depressive disorder treatment IMP D RGD:10448284|PMID:21803058 20151207 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:1825 childhood absence epilepsy treatment IDA D RGD:10448963|PMID:17331209 20151209 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:1826 epilepsy ISO RGD:1348310 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8868293 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:1936 atherosclerosis ISO RGD:1551786 D RGD:10448273|PMID:21468772 20151204 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15716408 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:1642609|PMID:15337376 20071003 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:630 genetic disease ISO RGD:1348310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10448967|PMID:18201831 20151209 RGD 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:9970 obesity IEP D RGD:10448938|PMID:17447163 20151208 RGD mRNA:increased expression:hypothalamus 620475 Npy2r neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:1348310 D RGD:1642379|PMID:17019604 20070913 RGD 620476 Rasgrp4 RAS guanyl releasing protein 4 gene DOID:630 genetic disease ISO RGD:733193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620477 Cdc20 cell division cycle 20 gene DOID:0080600 COVID-19 ISO RGD:731833 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620477 Cdc20 cell division cycle 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731833 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620477 Cdc20 cell division cycle 20 gene DOID:630 genetic disease ISO RGD:731833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620477 Cdc20 cell division cycle 20 gene DOID:684 hepatocellular carcinoma ISO RGD:731833 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620477 Cdc20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:7240710 20230505 OMIM 620477 Cdc20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 14 PMID:32666501|PMID:33683667|PMID:33898437|PMID:34218387 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704|PMID:29186038|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26092869|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050777 Joubert syndrome ISO RGD:1343997 D RGD:12911208|PMID:23386033 20170706 RGD DNA:missense mutations, nonsense mutation:exon:multiple 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050777 Joubert syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10577920|PMID:15786477|PMID:16025100|PMID:17576681|PMID:18414213|PMID:19597493|PMID:19668215|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25132448|PMID:25516202|PMID:25741868|PMID:25818971|PMID:25963545|PMID:25999675|PMID:26092869|PMID:26748598|PMID:26820064|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0081097 Rafiq syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668216 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:7240710 20130221 OMIM 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25133751|PMID:25741868|PMID:25818971|PMID:25999675|PMID:26092869|PMID:27081510|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31589614|PMID:33270637|PMID:9536098 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:25741868|PMID:26092869|PMID:27081510|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31506345|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29915382|PMID:30202406|PMID:31506345|PMID:33749171|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:1059 intellectual disability ISO RGD:1343997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:11836 clubfoot ISO RGD:1343997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:14791 Leber congenital amaurosis ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23034536|PMID:23386033|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:1529 penile disease ISO RGD:1343997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:3652 Leigh disease ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:630 genetic disease ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577920|PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382|PMID:33749171|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:8501 fundus dystrophy ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15786477|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:26092869|PMID:28125082|PMID:28492532|PMID:29186038|PMID:29230161|PMID:30202406|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1343997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668215|PMID:19668216 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9005249 Immunodeficiency 103 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:12911209|PMID:19668215 20170706 RGD DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human) 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:7240710 20130221 OMIM 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MORM syndrome PMID:19668215|PMID:19668216|PMID:23034536|PMID:23847139|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29186038|PMID:34188062 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1332343 D RGD:12911211|PMID:23349329 20170706 RGD protein:increased expression:skeletal muscle, white adipose tissue 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1343997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 620478 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity treatment IEP D RGD:12911211|PMID:23349329 20170706 RGD 620479 Cand1 cullin-associated and neddylation-dissociated 1 gene DOID:10283 prostate cancer ISO RGD:733696 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620479 Cand1 cullin-associated and neddylation-dissociated 1 gene DOID:630 genetic disease ISO RGD:733696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62048 Top2a DNA topoisomerase II alpha gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1352729 D RGD:2315133|PMID:11070118 20091221 RGD protein:increased expression:breast 62048 Top2a DNA topoisomerase II alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352729 D RGD:8554872 20180424 ClinVar ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine PMID:1651812 62048 Top2a DNA topoisomerase II alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 62048 Top2a DNA topoisomerase II alpha gene DOID:0080600 COVID-19 ISO RGD:1352729 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 62048 Top2a DNA topoisomerase II alpha gene DOID:10283 prostate cancer ISO RGD:1352729 D RGD:2315130|PMID:18347174 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352729 D RGD:2315121|PMID:19913893 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 62048 Top2a DNA topoisomerase II alpha gene DOID:11624 penile benign neoplasm severity ISO RGD:1352729 D RGD:2315128|PMID:18489530 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:1240 leukemia ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15833037 62048 Top2a DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:2315131|PMID:16556665 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:2315132|PMID:12438255 20091221 RGD mRNA:increased expression:kidney 62048 Top2a DNA topoisomerase II alpha gene DOID:2843 long QT syndrome ISO RGD:1352729 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 62048 Top2a DNA topoisomerase II alpha gene DOID:3070 high grade glioma ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18402387 62048 Top2a DNA topoisomerase II alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352729 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 62048 Top2a DNA topoisomerase II alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23533247 62048 Top2a DNA topoisomerase II alpha gene DOID:630 genetic disease ISO RGD:1352729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62048 Top2a DNA topoisomerase II alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352729 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 62048 Top2a DNA topoisomerase II alpha gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1352729 D RGD:2315126|PMID:19051821 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:9000918 Disease Progression ISO RGD:1352729 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:22204715|PMID:30132517 62048 Top2a DNA topoisomerase II alpha gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:1352729 D RGD:2315122|PMID:19539329 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17363613 62048 Top2a DNA topoisomerase II alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352729 D RGD:2315125|PMID:19270648 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:9002801 Recurrence ISO RGD:1352729 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:22204715|PMID:30132517 62048 Top2a DNA topoisomerase II alpha gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 62048 Top2a DNA topoisomerase II alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352729 D RGD:2315124|PMID:19347305 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:9004484 Sepsis ISO RGD:1352729 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 62048 Top2a DNA topoisomerase II alpha gene DOID:9006205 Animal Disease Models ISO RGD:1352729 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 62048 Top2a DNA topoisomerase II alpha gene DOID:9007188 Liver Neoplasms ISO RGD:1352729 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 62048 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11583189|PMID:12006526|PMID:16234514|PMID:22204715 62048 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:2315120|PMID:19996222 20091221 RGD 62048 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:2315127|PMID:18702822 20091221 RGD DNA:deletion (human) 62048 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:2315129|PMID:18465341 20091221 RGD DNA:amplification, deletion (human) 620480 Cand2 cullin-associated and neddylation-dissociated 2 (putative) gene DOID:0060224 atrial fibrillation ISO RGD:733192 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 620480 Cand2 cullin-associated and neddylation-dissociated 2 (putative) gene DOID:0060224 atrial fibrillation no_association ISO RGD:733192 D RGD:18899563|PMID:29459676 20200123 RGD DNA:SNP:intron:rs4642101 (human) 620480 Cand2 cullin-associated and neddylation-dissociated 2 (putative) gene DOID:630 genetic disease ISO RGD:733192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620480 Cand2 cullin-associated and neddylation-dissociated 2 (putative) gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:1551563 D RGD:18899564|PMID:31426861 20200123 RGD 620480 Cand2 cullin-associated and neddylation-dissociated 2 (putative) gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:733192 D RGD:18899562|PMID:27203392 20200123 RGD DNA:SNP:intron:rs4642101 (human) 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736932 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736932 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:630 genetic disease ISO RGD:736932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620481 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 620482 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:733990 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620482 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 620482 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:630 genetic disease ISO RGD:733990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620482 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:8398 osteoarthritis ISO RGD:733990 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 620484 Nop58 NOP58 ribonucleoprotein gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620484 Nop58 NOP58 ribonucleoprotein gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620484 Nop58 NOP58 ribonucleoprotein gene DOID:14557 primary pulmonary hypertension ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 620484 Nop58 NOP58 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:733462 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620484 Nop58 NOP58 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:733462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620484 Nop58 NOP58 ribonucleoprotein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733462 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620484 Nop58 NOP58 ribonucleoprotein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733462 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620484 Nop58 NOP58 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:733462 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620484 Nop58 NOP58 ribonucleoprotein gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620484 Nop58 NOP58 ribonucleoprotein gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733462 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786 620485 Pi4k2a phosphatidylinositol 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:1605063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:732538 D RGD:126781771|PMID:19691460 20210420 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:126781770|PMID:14595263 20210420 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:732538 D RGD:2289981|PMID:15788662 20080221 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868|PMID:28492532 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:7240710 20140911 OMIM 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 PMID:24119685|PMID:25741868|PMID:28492532|PMID:32579787 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060224 atrial fibrillation ISO RGD:732538 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0111078 tibial muscular dystrophy ISO RGD:732538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:10283 prostate cancer ISO RGD:732538 D RGD:2289978|PMID:17922460 20080221 RGD protein:increased expression:prostate gland 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:2289943|PMID:18006009 20080220 RGD protein:decreased expression:urinary bladder 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:2298502|PMID:16685269 20080703 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy IDA D RGD:10449024|PMID:22158510 20151214 RGD protein:increased phosphorylation:hippocampus 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:1551357 D RGD:10449024|PMID:22158510 20151214 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:1324 lung cancer ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732538 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:1909 melanoma ISO RGD:732538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:1909 melanoma ISO RGD:732538 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:19718025 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:2289980|PMID:16469638 20080221 RGD mRNA:decreased expression:urinary bladder 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:2298506|PMID:14614020 20080703 RGD mRNA:increased expression:urinary bladder 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:126790474|PMID:22549618 20210422 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:732538 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732538 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32065797 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29895397 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:126781765|PMID:18000820 20210420 RGD protein:altered localization:nucleus 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732538 D RGD:126781764|PMID:24916311 20210420 RGD DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732538 D RGD:126790475|PMID:26824984 20210422 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:4306 radiculopathy IEP D RGD:2289993|PMID:17401154 20080221 RGD mRNA:increased expression:spinal cord 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:4362 cervical cancer ISO RGD:732538 D RGD:126790468|PMID:28042953 20210422 RGD protein:increased expression: uterine cervix, cytoplasm 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732538 D RGD:2289987|PMID:15360049 20080221 RGD mRNA, protein:decreased expression:kidney 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5419 schizophrenia IEP D RGD:126790484|PMID:20467458 20210422 RGD protein:increased expression:prefrontal cortex, hippocampus 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5419 schizophrenia ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:732538 D RGD:126781768|PMID:21709195 20210420 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:732538 D RGD:126790467|PMID:20604875 20210422 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:571 median neuropathy IEP D RGD:10449020|PMID:19296522 20151211 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:571 median neuropathy IEP D RGD:126790486|PMID:18845940 20210422 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:574 peripheral nervous system disease ISO RGD:1551357 D RGD:734941|PMID:14555954 19990101 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:6000 congestive heart failure IEP D RGD:1580989|PMID:10421602 20080222 RGD associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732538 D RGD:126781763|PMID:22294845 20210420 RGD DNA:insertion/deletion:3'UTR:rs6147150 (human) 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:732538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732538 D RGD:126781762|PMID:27444519 20210420 RGD associated with oral squamous cell carcinoma 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732538 D RGD:126790471|PMID:21324275 20210422 RGD associated with lung non-small cell carcinoma 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:732538 D RGD:126781766|PMID:16507107 20210420 RGD associated with colorectal adenocarcinoma 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732538 D RGD:151893490|PMID:28756200 20220421 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732538 D RGD:126790470|PMID:26254096 20210422 RGD associated with lung adenocarcinoma 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002514 Neointima IEP D RGD:2289992|PMID:17438359 20080221 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732538 D RGD:2298499|PMID:18575766 20080703 RGD mRNA, protein:increased expression:ovary 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732538 D RGD:2289947|PMID:17465227 20080220 RGD protein:increased expression:uterine cervix 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732538 D RGD:2289951|PMID:11206334 20080220 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732538 D RGD:2289950|PMID:16962163 20080220 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732538 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004464 Skin Neoplasms ISO RGD:732538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732538 D RGD:2289979|PMID:17203220 20080221 RGD 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:10449013|PMID:22285193 20151211 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007096 Stroke IEP D RGD:2289956|PMID:15694257 20080220 RGD protein:increased expression:brain 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732538 D RGD:2298505|PMID:10537356 20080703 RGD protein:increased expression:endometrium 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732538 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732538 D RGD:2289949|PMID:17465220 20080220 RGD mRNA:increased expression:breast 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732538 D RGD:2289942|PMID:18182100 20080220 RGD DNA:amplification 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732538 D RGD:2289977|PMID:18094435 20080221 RGD DNA:polymorphism:promoter:-782G>T (human) 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9255 frontotemporal dementia ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 620486 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732538 D RGD:2289977|PMID:18094435 20080221 RGD DNA:polymorphism:promoter:-782G>T (human) 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1605249 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1605249 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1605249 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605249 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:630 genetic disease ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:9002169 MITOCHONDRIAL DNA DEPLETION SYNDROME 16B ISO RGD:1605249 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 620488 Milr1 mast cell immunoglobulin-like receptor 1 gene DOID:9008345 Mitochondrial DNA Depletion Syndrome 16 ISO RGD:1605249 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 620489 Dnajc14 DnaJ heat shock protein family (Hsp40) member C14 gene DOID:630 genetic disease ISO RGD:1349604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62049 Rpl9 ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:736467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62049 Rpl9 ribosomal protein L9 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:736467 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 62049 Rpl9 ribosomal protein L9 gene DOID:9004484 Sepsis ISO RGD:736467 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 620490 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:7240710 20130814 OMIM 620490 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 PMID:16199547|PMID:17576681|PMID:23746551|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9536098 620490 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 gene DOID:607 paraplegia ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23746551|PMID:24103911|PMID:24283893|PMID:25741868|PMID:28492532|PMID:30521973|PMID:32214227|PMID:9536098 620490 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 gene DOID:630 genetic disease ISO RGD:731293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23746551|PMID:25741868|PMID:28492532|PMID:32214227 620490 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 gene DOID:6846 familial melanoma ISO RGD:731293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:7240710 20130221 OMIM 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659|PMID:28492532 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1354285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:630 genetic disease ISO RGD:1354285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:7240710 20130221 OMIM 620492 Slc36a2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 620493 Cbfb core-binding factor subunit beta gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 620493 Cbfb core-binding factor subunit beta gene DOID:0080006 bone development disease ISO RGD:1320589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 620493 Cbfb core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 620493 Cbfb core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia susceptibility ISO RGD:1320589 D RGD:1599543|PMID:8351518 20070207 RGD DNA:inversion: ;inv(16)(p13q22) 620493 Cbfb core-binding factor subunit beta gene DOID:0110255 cataract 5 multiple types ISO RGD:1320589 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 620493 Cbfb core-binding factor subunit beta gene DOID:1682 congenital heart disease ISO RGD:1320589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 620493 Cbfb core-binding factor subunit beta gene DOID:630 genetic disease ISO RGD:1320589 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620493 Cbfb core-binding factor subunit beta gene DOID:674 cleft palate ISO RGD:1320589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 620493 Cbfb core-binding factor subunit beta gene DOID:684 hepatocellular carcinoma ISO RGD:1320589 D RGD:126775147|PMID:17094378 20210406 RGD mRNA:decreased expression:liver 620493 Cbfb core-binding factor subunit beta gene DOID:9003295 Heterotopic Ossification ISO RGD:1320589 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 620493 Cbfb core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:7240710 20221102 OMIM 620493 Cbfb core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cleidocranial dysplasia 2 PMID:25741868|PMID:36241386 620493 Cbfb core-binding factor subunit beta gene DOID:9119 acute myeloid leukemia ISO RGD:1320589 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 620493 Cbfb core-binding factor subunit beta gene DOID:9119 acute myeloid leukemia ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:36241386 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:0060067 Pearson syndrome ISO RGD:1346946 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Pearson syndrome 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:12930 dilated cardiomyopathy ISO RGD:1346946 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1346946 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:3652 Leigh disease ISO RGD:1346946 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:19394449|PMID:20643099|PMID:29444077 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:700 mitochondrial metabolism disease ISO RGD:1346946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11935318|PMID:20301353|PMID:20301382|PMID:30143805|PMID:32906214|PMID:8680405 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1346946 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1346946 D RGD:5686339|PMID:19394449 20120119 RGD DNA:missense mutation:cds:m.10680G>A (p.A71T) (human) 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1346946 D RGD:5686341|PMID:11935318 20120119 RGD DNA:missense mutation:cds:m.10663T>C (p.V65A) (human) 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1346946 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:11935318|PMID:20301353|PMID:30143805|PMID:32906214|PMID:8680405 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:9256 colorectal cancer ISO RGD:1346946 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:9806551 620494 Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L gene DOID:9351 diabetes mellitus ISO RGD:1346946 D RGD:5686343|PMID:7603516 20120119 RGD DNA:deletion: :m.8213_13992 (human) 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345303 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:8778396 D RGD:9068941 20220825 RGD PMID:23018837|REF_RGD_ID:11554170 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1345303 D RGD:9068941 20200609 RGD PMID:23018837|REF_RGD_ID:11554170 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1345303 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:630 genetic disease ISO RGD:1345303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:9001488 Human Influenza ISO RGD:1345303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:9006205 Animal Disease Models ISO RGD:1345303 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 620495 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620496 Cpz carboxypeptidase Z gene DOID:630 genetic disease ISO RGD:731300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620496 Cpz carboxypeptidase Z gene DOID:9007661 Dwarfism ISO RGD:731300 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 620497 Rpl10a ribosomal protein L10A gene DOID:0050553 JMP syndrome ISO RGD:732410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620497 Rpl10a ribosomal protein L10A gene DOID:3910 lung adenocarcinoma ISO RGD:732410 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620497 Rpl10a ribosomal protein L10A gene DOID:630 genetic disease ISO RGD:732410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620497 Rpl10a ribosomal protein L10A gene DOID:9006205 Animal Disease Models ISO RGD:732410 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1352807 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352807 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:4448 macular degeneration ISO RGD:1352807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643|PMID:28492532|PMID:32581362 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:8501 fundus dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23993198|PMID:28492532|PMID:28644393|PMID:30688845|PMID:9536098 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:7240710 20210929 OMIM 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:14691150|PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:32817297|PMID:4412179 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1352807 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:7240710 20170531 OMIM 620499 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:28644393|PMID:30688845|PMID:32817297 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:1344978 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:12592607|PMID:17101001|PMID:17194691|PMID:25741868 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISS RGD:1344978 D RGD:13592920 20180518 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0080000 muscular disease ISO RGD:1344978 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19628585 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:1344978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:1599481|PMID:12592607 20070206 RGD distal arthrogryposis type 2B, OMIM:601680 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1344978 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:7240710 20130221 OMIM 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:12592607|PMID:17101001|PMID:17194691|PMID:23401156|PMID:23850728|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:1344978 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 62050 Tnni2 troponin I2, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 62050 Tnni2 troponin I2, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344978 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 62050 Tnni2 troponin I2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1344978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62050 Tnni2 troponin I2, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1344978 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 620500 Acacb acetyl-CoA carboxylase beta gene DOID:0060041 autism spectrum disorder ISO RGD:731908 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 620500 Acacb acetyl-CoA carboxylase beta gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:731908 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 PMID:28492532 620500 Acacb acetyl-CoA carboxylase beta gene DOID:630 genetic disease ISO RGD:731908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620500 Acacb acetyl-CoA carboxylase beta gene DOID:9006646 Metabolic Syndrome ISO RGD:1619056 D RGD:329333017|PMID:29684438 20230426 RGD mRNA:increased expression:liver (mouse) 620500 Acacb acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance IDA D RGD:1625727|PMID:16485039 20070628 RGD 620500 Acacb acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:731908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 620500 Acacb acetyl-CoA carboxylase beta gene DOID:9008939 Breast Neoplasms ISO RGD:731908 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 620500 Acacb acetyl-CoA carboxylase beta gene DOID:9452 fatty liver disease IDA D RGD:1625727|PMID:16485039 20070628 RGD 620500 Acacb acetyl-CoA carboxylase beta gene DOID:9970 obesity ISO RGD:731908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 620501 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1024 leprosy ISO RGD:1602111 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 620501 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1602111 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620501 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1602111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620501 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602111 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:731370 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:731370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:10283 prostate cancer ISO RGD:731370 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:11446 sciatic neuropathy IEP D RGD:6218977|PMID:10852218 20120307 RGD mRNA:increased expression:sciatic nerve 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:630 genetic disease ISO RGD:731370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731370 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620502 Gfra3 GDNF family receptor alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620503 Gfra4 GDNF family receptor alpha 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 620503 Gfra4 GDNF family receptor alpha 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343287 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 620503 Gfra4 GDNF family receptor alpha 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 620503 Gfra4 GDNF family receptor alpha 4 gene DOID:630 genetic disease ISO RGD:1343287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620503 Gfra4 GDNF family receptor alpha 4 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1343287 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 620504 Cdhr5 cadherin-related family member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620504 Cdhr5 cadherin-related family member 5 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 620504 Cdhr5 cadherin-related family member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605676 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 620504 Cdhr5 cadherin-related family member 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605676 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 620504 Cdhr5 cadherin-related family member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620504 Cdhr5 cadherin-related family member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605676 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 620504 Cdhr5 cadherin-related family member 5 gene DOID:630 genetic disease ISO RGD:1605676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620504 Cdhr5 cadherin-related family member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1605676 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 620505 Crh corticotropin releasing hormone gene DOID:0050562 West syndrome ISO RGD:730946 D RGD:11554173 20180605 CTD CTD Direct Evidence: marker/mechanism PMID:11341487 620505 Crh corticotropin releasing hormone gene DOID:0060001 withdrawal disorder IEP D RGD:5508177|PMID:12782395 20111006 RGD mRNA:increased expression:amygdala (rat) 620505 Crh corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12968131|PMID:18596687 620505 Crh corticotropin releasing hormone gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 620505 Crh corticotropin releasing hormone gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 620505 Crh corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7477348 620505 Crh corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:5508831|PMID:7477348 20111025 RGD protein:decreased expression:cerebral cortex (human) 620505 Crh corticotropin releasing hormone gene DOID:1129 pituitary apoplexy ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12699433|PMID:12699434 620505 Crh corticotropin releasing hormone gene DOID:11446 sciatic neuropathy IEP D RGD:5490542|PMID:21684787 20110916 RGD mRNA:increased expression:central nucleus of amygdala, bed nucleus of stria terminalis (rat) 620505 Crh corticotropin releasing hormone gene DOID:13375 temporal arteritis no_association ISO RGD:730946 D RGD:1581301|PMID:12051390 20070326 RGD DNA:polymorphism:promoter 620505 Crh corticotropin releasing hormone gene DOID:13619 extrahepatic cholestasis IEP D RGD:5490980|PMID:8387536 20110921 RGD protein:decreased expression:hypothalamus (rat) 620505 Crh corticotropin releasing hormone gene DOID:14330 Parkinson's disease ISO RGD:730946 D RGD:5508835|PMID:3502064 20111025 RGD protein:decreased expression:cerebral cortex (human) 620505 Crh corticotropin releasing hormone gene DOID:1561 cognitive disorder ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16039799 620505 Crh corticotropin releasing hormone gene DOID:1574 alcohol use disorder IEP D RGD:5508173|PMID:20060104 20111006 RGD mRNA:increased expression:central amygdaloid nucleus (rat) 620505 Crh corticotropin releasing hormone gene DOID:1596 depressive disorder IEP D RGD:5147490|PMID:20860876 20111003 RGD mRNA:increased expression:paraventricular nucleus, dorsal raphe nucleus (rat) 620505 Crh corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12438692|PMID:18698320 620505 Crh corticotropin releasing hormone gene DOID:1824 status epilepticus ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7756609 620505 Crh corticotropin releasing hormone gene DOID:2030 anxiety disorder ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7816204|PMID:8736133|PMID:11440811|PMID:11875628|PMID:12424556|PMID:12438692|PMID:14575894|PMID:16495007|PMID:17293045|PMID:21268831|PMID:22231481 620505 Crh corticotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1914160 620505 Crh corticotropin releasing hormone gene DOID:2316 brain ischemia IEP D RGD:1581300|PMID:8541482 19990101 RGD mRNA:increased expression:cerebral cortex (rat) 620505 Crh corticotropin releasing hormone gene DOID:3328 temporal lobe epilepsy IEP D RGD:5508845|PMID:9037416 20111025 RGD mRNA:increased expression:dentate gyrus (rat) 620505 Crh corticotropin releasing hormone gene DOID:3525 middle cerebral artery infarction IEP D RGD:5490538|PMID:21741032 20110916 RGD protein:decreased expression:median eminence of hypothalamus (rat) 620505 Crh corticotropin releasing hormone gene DOID:3612 retinitis ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11384150 620505 Crh corticotropin releasing hormone gene DOID:446 primary hyperaldosteronism ISS RGD:730947 D RGD:13592920 20180518 MouseDO OMIM:605635 | OMIM:613677 620505 Crh corticotropin releasing hormone gene DOID:480 movement disease ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21618986 620505 Crh corticotropin releasing hormone gene DOID:594 panic disorder ISO RGD:730946 D RGD:1358525|PMID:14675801 19990101 RGD 620505 Crh corticotropin releasing hormone gene DOID:630 genetic disease ISO RGD:730946 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22984453|PMID:23086396|PMID:23593457|PMID:24395520|PMID:26467025|PMID:28492532 620505 Crh corticotropin releasing hormone gene DOID:853 polymyalgia rheumatica no_association ISO RGD:730946 D RGD:1581301|PMID:12051390 20070326 RGD DNA:polymorphism:promoter 620505 Crh corticotropin releasing hormone gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5490964|PMID:20458328 20110921 RGD protein:altered expression:spinal cord (rat) 620505 Crh corticotropin releasing hormone gene DOID:9000641 Pain ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16495007 620505 Crh corticotropin releasing hormone gene DOID:9000972 Fever ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 620505 Crh corticotropin releasing hormone gene DOID:9001109 Anorexia IDA D RGD:704394|PMID:12429558 19990101 RGD 620505 Crh corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 620505 Crh corticotropin releasing hormone gene DOID:9001204 Dyspepsia IEP D RGD:5490556|PMID:21589865 20110919 RGD protein:increased expression:central nucleus of amygdala, paraventricular hypothalamic nucleus (rat) 620505 Crh corticotropin releasing hormone gene DOID:9001239 Delayed Puberty ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20002962 620505 Crh corticotropin releasing hormone gene DOID:9001981 Weight Loss ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8986836 620505 Crh corticotropin releasing hormone gene DOID:9003674 Chest Pain ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2563132 620505 Crh corticotropin releasing hormone gene DOID:9004484 Sepsis IEP D RGD:5490558|PMID:21549066 20110919 RGD protein:increased expression:hypothalamus (rat) 620505 Crh corticotropin releasing hormone gene DOID:9005158 Cushing Syndrome ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 620505 Crh corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders IEP D RGD:5508177|PMID:12782395 20111006 RGD mRNA:decreased expression:hypothalamus (rat) 620505 Crh corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7796157|PMID:10516337|PMID:11797056|PMID:18596687|PMID:19349312 620505 Crh corticotropin releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5508166|PMID:9652969 20111005 RGD mRNA:increased expression:paraventricular hypothalamic nucleus (rat) 620505 Crh corticotropin releasing hormone gene DOID:9006024 Hypotension ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1320258|PMID:6093200 620505 Crh corticotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6093200 620505 Crh corticotropin releasing hormone gene DOID:9007877 Fetal Hypoxia IEP D RGD:5491006|PMID:19409200 20110927 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) 620505 Crh corticotropin releasing hormone gene DOID:9008514 Psychomotor Disorders ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1335535 620505 Crh corticotropin releasing hormone gene DOID:987 alopecia ISO RGD:730946 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 620505 Crh corticotropin releasing hormone gene DOID:9970 obesity IDA D RGD:5508830|PMID:11564446 20111025 RGD 620505 Crh corticotropin releasing hormone gene DOID:9993 hypoglycemia IDA D RGD:704397|PMID:12606499 19990101 RGD 620506 Gmfg glia maturation factor, gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 620506 Gmfg glia maturation factor, gamma gene DOID:630 genetic disease ISO RGD:736890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620506 Gmfg glia maturation factor, gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620506 Gmfg glia maturation factor, gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 620507 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:1909 melanoma ISO RGD:733946 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Melanoma PMID:26619011 620507 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:2513 basal cell carcinoma ISO RGD:733946 D RGD:9850250|PMID:23774526 20150401 RGD DNA:missense mutation:cds:p.S128F (human) 620507 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:630 genetic disease ISO RGD:733946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620507 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:8923 skin melanoma ISO RGD:733946 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 62051 Pla2g5 phospholipase A2, group V gene DOID:0060369 Parkinson's disease 6 ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 62051 Pla2g5 phospholipase A2, group V gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 62051 Pla2g5 phospholipase A2, group V gene DOID:0060869 late-onset retinal degeneration ISO RGD:735328 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration 62051 Pla2g5 phospholipase A2, group V gene DOID:0080543 hyperprolinemia type 2 ISO RGD:735328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 62051 Pla2g5 phospholipase A2, group V gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 62051 Pla2g5 phospholipase A2, group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:7240710 20141015 OMIM 62051 Pla2g5 phospholipase A2, group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck retina, familial benign PMID:17502520|PMID:22137173|PMID:25549071|PMID:28492532 62051 Pla2g5 phospholipase A2, group V gene DOID:630 genetic disease ISO RGD:735328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62051 Pla2g5 phospholipase A2, group V gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 620510 Gabarapl2 GABA type A receptor associated protein like 2 gene DOID:0110989 Joubert syndrome 20 ISO RGD:735450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 620510 Gabarapl2 GABA type A receptor associated protein like 2 gene DOID:630 genetic disease ISO RGD:735450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620511 Crx cone-rod homeobox gene DOID:0050439 Usher syndrome ISO RGD:733182 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 620511 Crx cone-rod homeobox gene DOID:0050572 cone-rod dystrophy ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10874321|PMID:11971869|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30718709|PMID:31626798|PMID:32533067|PMID:33691693|PMID:9390563 620511 Crx cone-rod homeobox gene DOID:0050817 Stargardt disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:28492532|PMID:29555955|PMID:30718709|PMID:32533067|PMID:35934205 620511 Crx cone-rod homeobox gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:733182 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25741868|PMID:26355662|PMID:28492532|PMID:29641573|PMID:30718709|PMID:31626798|PMID:31630094|PMID:32865313 620511 Crx cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:7240710 20140911 OMIM 620511 Crx cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:734827|PMID:9537410 19990101 RGD DNA:deletions:cds (human) 620511 Crx cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11910559|PMID:11971869|PMID:12208271|PMID:12359607|PMID:12843339|PMID:15531334|PMID:15994872|PMID:16123401|PMID:16199547|PMID:17576681|PMID:17964524|PMID:18682808|PMID:20301475|PMID:20513135|PMID:21602930|PMID:22960069|PMID:22968130|PMID:23049240|PMID:23806086|PMID:24088041|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25259927|PMID:25270190|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28945142|PMID:28966547|PMID:29068479|PMID:29555955|PMID:29568065|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30029497|PMID:30460480|PMID:30543658|PMID:30557390|PMID:30718709|PMID:30945053|PMID:31047384|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:31743059|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32865313|PMID:32927963|PMID:33090715|PMID:33546218|PMID:33691693|PMID:35934205|PMID:9390563|PMID:9427255|PMID:9536098|PMID:9537410|PMID:9792858|PMID:9931337 620511 Crx cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:7240710 20130221 OMIM 620511 Crx cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11971869|PMID:15531334|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:24265693|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:28492532|PMID:28945142|PMID:29068479|PMID:29785639|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:33546218|PMID:33691693|PMID:9390563|PMID:9427255|PMID:9792858 620511 Crx cone-rod homeobox gene DOID:10283 prostate cancer ISO RGD:733182 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620511 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 620511 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8547535|PMID:23701314 20140217 RGD 620511 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 620511 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 620511 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:31626798|PMID:33090715|PMID:9427255|PMID:9792858 620511 Crx cone-rod homeobox gene DOID:14791 Leber congenital amaurosis ISO RGD:733182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9537410|PMID:9931337 620511 Crx cone-rod homeobox gene DOID:14791 Leber congenital amaurosis ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26872967|PMID:32165824 620511 Crx cone-rod homeobox gene DOID:3529 central core disease ISO RGD:733182 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:11139241|PMID:16123401|PMID:17964524|PMID:23049240|PMID:25741868|PMID:28492532 620511 Crx cone-rod homeobox gene DOID:4448 macular degeneration ISO RGD:733182 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 620511 Crx cone-rod homeobox gene DOID:630 genetic disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620511 Crx cone-rod homeobox gene DOID:8466 retinal degeneration ISO RGD:733182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9792858 620511 Crx cone-rod homeobox gene DOID:8501 fundus dystrophy ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10916183|PMID:11748859|PMID:11971869|PMID:21602930|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25270190|PMID:25326637|PMID:25741868|PMID:26161267|PMID:27624628|PMID:28041643|PMID:28492532|PMID:29068479|PMID:29555955|PMID:29641573|PMID:29785639|PMID:30543658|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32927963|PMID:33090715|PMID:33546218|PMID:9427255|PMID:9792858|PMID:9931337 620511 Crx cone-rod homeobox gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:733182 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:23806086|PMID:24088041|PMID:25259927|PMID:28492532 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:14694831|PMID:24782632 20190617 RGD protein:decreased expression:liver 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080600 COVID-19 ISO RGD:733877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:733877 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:733877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20659813|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27014569|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28515471|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30682426|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:733877 D RGD:10047114|PMID:25260493 20150709 RGD protein:decreased expression:brain 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:630 genetic disease ISO RGD:733877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:30682426|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002231 Fetal Growth Retardation IEP D RGD:1599884|PMID:11124150 20070220 RGD mRNA:decreased expression 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:7240710 20130221 OMIM 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25525159|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30029694|PMID:30626930|PMID:30682426|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552757 D RGD:10047114|PMID:25260493 20150709 RGD protein:decreased expression:brain 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:733877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:7240710 20230505 OMIM 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency type 1 PMID:10352164|PMID:10518281|PMID:11773547|PMID:12237653|PMID:12809642|PMID:14630990|PMID:15902556|PMID:16040264|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25087612|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:26676313|PMID:27117294|PMID:27334895|PMID:27491397|PMID:28245050|PMID:28492532|PMID:28559085|PMID:28798025|PMID:29095929|PMID:30029694|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 620512 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9452 fatty liver disease ISO RGD:733877 D RGD:1599882|PMID:7846063 20070220 RGD DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0050758 metabolic acidosis ISO RGD:736480 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0080600 COVID-19 ISO RGD:736480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:736480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:12754706|PMID:15902556|PMID:16199547|PMID:16423905|PMID:16523289|PMID:17143551|PMID:17576681|PMID:19699128|PMID:19880769|PMID:21549624|PMID:22494545|PMID:23757202|PMID:24033266|PMID:24314034|PMID:24664533|PMID:25741868|PMID:26109258|PMID:27014569|PMID:27491397|PMID:28492532|PMID:28515471|PMID:28871440|PMID:29956646|PMID:30682426|PMID:31130284|PMID:34578803|PMID:8651282|PMID:9259266|PMID:9536098 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:736480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:736480 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24314034 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10652 Alzheimer's disease ISO RGD:736480 D RGD:1600786|PMID:11430884 20070327 RGD 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:114 heart disease ISO RGD:736480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:3146 lipid metabolism disorder ISO RGD:736480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:630 genetic disease ISO RGD:736480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:700 mitochondrial metabolism disease ISO RGD:736480 D RGD:1600779|PMID:8651282 20070327 RGD Mitochondrial trifunctional protein deficiency, OMIM:609015 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:7240710 20230505 OMIM 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy PMID:12754706|PMID:16423905|PMID:19699128|PMID:19880769|PMID:24664533|PMID:25741868|PMID:28492532|PMID:28515471|PMID:29956646|PMID:8163672|PMID:8651282|PMID:9259266 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:736480 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:736480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 620513 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9452 fatty liver disease ISO RGD:736480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:7240710 20130425 OMIM 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16546179|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:185223805|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:20376488|PMID:20389114|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26055667|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28516284|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:31813752|PMID:32710939|PMID:32778825|PMID:32793418|PMID:33391346|PMID:9499414|PMID:9536098|PMID:9582344 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:12736383|PMID:16546179|PMID:18523805|PMID:18676165|PMID:22241096|PMID:23798014|PMID:25741868|PMID:28492532|PMID:32793418|PMID:9499414 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:6000 congestive heart failure ISO RGD:732202 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30827304 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:630 genetic disease ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12736383|PMID:16546179|PMID:1692038|PMID:18054510|PMID:18523805|PMID:18676165|PMID:21170680|PMID:21483766|PMID:22241096|PMID:22424739|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:27051597|PMID:2808706|PMID:28492532|PMID:32793418|PMID:9499414 620514 Acads acyl-CoA dehydrogenase short chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:732202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:731042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16055083 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:10763 hypertension IEP D RGD:633385|PMID:9494115 20061110 RGD mRNA:increased expression:aorta (rat) 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:10763 hypertension ISO RGD:731042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:3393 coronary artery disease ISO RGD:731042 D RGD:1580994|PMID:15562935 19990101 RGD DNA:missense mutation:cds:p.K167N (human) 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:3393 coronary artery disease severity ISO RGD:731042 D RGD:1580995|PMID:12810610 19990101 RGD DNA:snp:3' utr:T>C (human) 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction ISO RGD:731042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12646194|PMID:14684693 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction ISO RGD:731042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12646194|PMID:12810610|PMID:14684693 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:731042 D RGD:1580996|PMID:12646194 19990101 RGD DNA:missense mutation:cds:p.K167N (human) 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:731042 D RGD:7240710 20190502 OMIM 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:6000 congestive heart failure ISO RGD:731042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:731042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731042 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:783 end stage renal disease IEP D RGD:1580992|PMID:12661921 19990101 RGD mRNA, protein:increased expression:kidney (rat) 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:628368|PMID:12384456 19990101 RGD 620515 Olr1 oxidized low density lipoprotein receptor 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:731042 D RGD:1580993|PMID:16328515 19990101 RGD 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344057 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344057 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:7240710 20180725 OMIM 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B PMID:11489285|PMID:12112194|PMID:21820099|PMID:22073189|PMID:22235333|PMID:22978711|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31919451 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:11832 visual epilepsy ISO RGD:1344057 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25741868|PMID:25921748|PMID:26467025|PMID:28492532|PMID:29215089|PMID:30866059|PMID:32412666|PMID:9536098 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32412666|PMID:9536098 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:1826 epilepsy ISO RGD:1344057 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:630 genetic disease ISO RGD:1344057 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 620516 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344057 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 620517 Xpo1 exportin 1 gene DOID:0060224 atrial fibrillation ISO RGD:735365 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 620517 Xpo1 exportin 1 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:735365 D RGD:151665794|PMID:31870117 20220404 RGD protein:increased expression:colorectum (human) 620517 Xpo1 exportin 1 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:735365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 620517 Xpo1 exportin 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735365 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 620517 Xpo1 exportin 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735365 D RGD:151665793|PMID:31569391 20220404 RGD protein:increased expression:stomach (human) 620517 Xpo1 exportin 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:735365 D RGD:151667434|PMID:27714846 20220408 RGD protein:increased expression:stomach (human) 620517 Xpo1 exportin 1 gene DOID:13938 amenorrhea ISO RGD:735365 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620517 Xpo1 exportin 1 gene DOID:1793 pancreatic cancer exacerbates ISO RGD:735365 D RGD:151665797|PMID:20003838 20220404 RGD protein:increased expression:pancreas (human) 620517 Xpo1 exportin 1 gene DOID:1826 epilepsy ISO RGD:735365 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 620517 Xpo1 exportin 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:735365 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 620517 Xpo1 exportin 1 gene DOID:363 uterine cancer ISO RGD:735365 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 620517 Xpo1 exportin 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:735365 D RGD:151665802|PMID:30115935 20220404 RGD human cell line in a mouse model 620517 Xpo1 exportin 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:735365 D RGD:151667432|PMID:28373767 20220408 RGD protein:decreased expression:stomach (human) 620517 Xpo1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735365 D RGD:151667431|PMID:24898882 20220408 RGD mRNA, protein:increased expression:epithelium of esophagus (human) 620517 Xpo1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:735365 D RGD:151667436|PMID:25148895 20220408 RGD protein:increased expression:esophagus (human) 620517 Xpo1 exportin 1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:732925 D RGD:11058563|PMID:25629636 20220408 RGD human cell line in a mouse model 620517 Xpo1 exportin 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735365 D RGD:151665798|PMID:31113936 20220404 RGD human cell line in a mouse model 620517 Xpo1 exportin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735365 D RGD:151667438|PMID:24946002 20220408 RGD human cell line in a mouse model 620517 Xpo1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:151665799|PMID:33268793 20220404 RGD circRNA:increased expression:lung (human) 620517 Xpo1 exportin 1 gene DOID:4682 extrahepatic bile duct carcinoma disease_progression ISO RGD:735365 D RGD:151665800|PMID:27279267 20220404 RGD protein:increased expression:extrahepatic bile duct (human) 620517 Xpo1 exportin 1 gene DOID:5419 schizophrenia ISO RGD:735365 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620517 Xpo1 exportin 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:735365 D RGD:151667437|PMID:24026662 20220408 RGD protein:increased expression:stomach (human) 620517 Xpo1 exportin 1 gene DOID:630 genetic disease ISO RGD:735365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620517 Xpo1 exportin 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735365 D RGD:151665796|PMID:25030088 20220404 RGD human cell line in a mouse model 620517 Xpo1 exportin 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:735365 D RGD:151667441|PMID:31371628 20220408 RGD mRNA:increased expression:liver (human) 620517 Xpo1 exportin 1 gene DOID:684 hepatocellular carcinoma treatment IDA D RGD:151667433|PMID:27013579 20220408 RGD 620517 Xpo1 exportin 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735365 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 620517 Xpo1 exportin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735365 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 620517 Xpo1 exportin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735365 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 620517 Xpo1 exportin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735365 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:26619011 620517 Xpo1 exportin 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:735365 D RGD:151665795|PMID:26603256 20220404 RGD human cell line in a mouse model 620517 Xpo1 exportin 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:735365 D RGD:151667439|PMID:33745946 20220408 RGD human cell line in a mouse model 620518 Doc2a double C2 domain alpha gene DOID:0060019 coronin-1A deficiency ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620518 Doc2a double C2 domain alpha gene DOID:0060041 autism spectrum disorder ISO RGD:731423 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 620518 Doc2a double C2 domain alpha gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:731423 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 620518 Doc2a double C2 domain alpha gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:731423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 620518 Doc2a double C2 domain alpha gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620518 Doc2a double C2 domain alpha gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:731423 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 620518 Doc2a double C2 domain alpha gene DOID:12849 autistic disorder ISO RGD:731423 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620518 Doc2a double C2 domain alpha gene DOID:1882 atrial heart septal defect ISO RGD:731423 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 620518 Doc2a double C2 domain alpha gene DOID:5419 schizophrenia ISO RGD:731423 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620518 Doc2a double C2 domain alpha gene DOID:630 genetic disease ISO RGD:731423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620518 Doc2a double C2 domain alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731423 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620518 Doc2a double C2 domain alpha gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620518 Doc2a double C2 domain alpha gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:731423 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 620519 Doc2b double C2 domain beta gene DOID:630 genetic disease ISO RGD:732162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62052 Tnni3 troponin I3, cardiac type gene DOID:0050638 transthyretin amyloidosis ISO RGD:737204 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17587482 62052 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35535697|PMID:7592712|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35050212|PMID:35535697|PMID:7592712|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20569525|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35535697|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 62052 Tnni3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9241277|PMID:11801593|PMID:11815426 62052 Tnni3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19289050|PMID:19449150|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29176140|PMID:29907873|PMID:30279906|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32686758|PMID:33407484|PMID:33673806|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:7240710 20130425 OMIM 62052 Tnni3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16267253|PMID:16274223|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18423659|PMID:18430738|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19645627|PMID:19651143|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24973218|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31006259|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31983221|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32885985|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34213952|PMID:34286374|PMID:35050212|PMID:36129056|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:7240710 20130425 OMIM 62052 Tnni3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:7240710 20130425 OMIM 62052 Tnni3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18467357|PMID:18533079|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:737204 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:24033266|PMID:25741868|PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:0110936 nemaline myopathy 5 ISO RGD:737204 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:7240710 20130221 OMIM 62052 Tnni3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32182250|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33429969|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:114 heart disease ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19549929 62052 Tnni3 troponin I3, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737204 D RGD:1580420|PMID:15698845 19990101 RGD 62052 Tnni3 troponin I3, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17027633|PMID:17463320|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19033660|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19590045|PMID:19645627|PMID:19651143|PMID:19754353|PMID:19914256|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20215591|PMID:20350521|PMID:20474083|PMID:20530761|PMID:20569525|PMID:20617149|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22112859|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23785128|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24973218|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25771144|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26741492|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28255936|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29710196|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:30953456|PMID:30975432|PMID:31006259|PMID:31112419|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:31983221|PMID:32182250|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:32885985|PMID:33019804|PMID:33407484|PMID:33429969|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35535697|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15070570 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:1580422|PMID:15070570 19990101 RGD 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18414213|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31534214|PMID:31568572|PMID:31877599|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:35050212|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:3191 nemaline myopathy ISO RGD:737204 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:3393 coronary artery disease ISO RGD:737204 D RGD:1580780|PMID:12221049 20161128 RGD 62052 Tnni3 troponin I3, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:18414213|PMID:20474083|PMID:21310275|PMID:21511876|PMID:22876777|PMID:23967088|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:26440512|PMID:28492532|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12531876 62052 Tnni3 troponin I3, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:737204 D RGD:1580419|PMID:16288990 19990101 RGD 62052 Tnni3 troponin I3, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10098965|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12746413|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20161772|PMID:20474083|PMID:20569525|PMID:20617149|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21839045|PMID:22675533|PMID:23283745|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25324519|PMID:25440410|PMID:25611685|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27557662|PMID:27895589|PMID:28255936|PMID:28382084|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29176140|PMID:29255176|PMID:29661763|PMID:29710196|PMID:29907873|PMID:30279906|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31912959|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:5844 myocardial infarction ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 62052 Tnni3 troponin I3, cardiac type gene DOID:630 genetic disease ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:820 myocarditis ISO RGD:737204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34213952|PMID:34286374|PMID:35050212|PMID:36129056|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:9000299 cardiac amyloidosis ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15774859|PMID:17010989|PMID:17872964|PMID:23690394|PMID:24033266|PMID:25741868|PMID:26936621|PMID:27532257|PMID:28492532|PMID:30731207|PMID:34540771|PMID:7592712 62052 Tnni3 troponin I3, cardiac type gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737204 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 62052 Tnni3 troponin I3, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 62052 Tnni3 troponin I3, cardiac type gene DOID:9007 sudden infant death syndrome ISO RGD:737204 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:10098965|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12746413|PMID:15607392|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20161772|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21533915|PMID:21839045|PMID:22301726|PMID:22675533|PMID:23283745|PMID:23906401|PMID:24033266|PMID:24111713|PMID:24474965|PMID:25132132|PMID:25440410|PMID:25611685|PMID:25741868|PMID:26169204|PMID:26741492|PMID:27532257|PMID:27557662|PMID:28382084|PMID:28492532|PMID:29176140|PMID:29661763|PMID:29907873|PMID:30279906|PMID:31912959|PMID:9241277 62052 Tnni3 troponin I3, cardiac type gene DOID:9007096 Stroke ISO RGD:737204 D RGD:1580421|PMID:15604421 19990101 RGD 62052 Tnni3 troponin I3, cardiac type gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62344 D RGD:329337366|PMID:30259997 20230428 RGD 62052 Tnni3 troponin I3, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:737204 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:21839045|PMID:25741868 62052 Tnni3 troponin I3, cardiac type gene DOID:9562 primary ciliary dyskinesia ISO RGD:737204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, somatic PMID:15342699|PMID:15917268 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0050820 atrioventricular block ISO RGD:1606841 D RGD:12914775|PMID:16896344 20170712 RGD DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0050822 second-degree atrioventricular block ISO RGD:1606841 D RGD:8554872 20190423 ClinVar ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree PMID:10587520 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606841 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:7240710 20130221 OMIM 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:12914790|PMID:25438918 20170713 RGD DNA:nonsense mutation:exon:p.K192X (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:12914791|PMID:22179962 20170713 RGD DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:7240710 20130221 OMIM 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:10021345|PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20725931|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33835496|PMID:34214246|PMID:9651244 620520 Nkx2-5 NK2 homeobox 5 gene DOID:0112232 lissencephaly 3 ISO RGD:1606841 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606841 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606841 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28973413 620520 Nkx2-5 NK2 homeobox 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10587520|PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:12914792|PMID:21165553 20170713 RGD DNA:missense mutation:exon:p.P59A (c.175C>G) (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1681 heart septal defect ISO RGD:1606841 D RGD:1581130|PMID:12112663 19990101 RGD 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:12914776|PMID:24880466 20170712 RGD DNA:missense mutation:exon:p.E181H (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:12914787|PMID:26679770 20170713 RGD DNA:deletion:exon 1:c.112delG (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:12914796|PMID:17891520 20170713 RGD DNA:nonsense mutation:exon 1:p.E109X (c.325G>T) (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:1580253|PMID:9651244 19990101 RGD DNA:missense mutation, nonsense mutations: :p.Q170X, p.T178M, p.Q198X (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:1581132|PMID:15342699 19990101 RGD DNA:mutations:multiple (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Malformation of the heart and great vessels PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:14607454|PMID:16418214|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19948535|PMID:20456451|PMID:20807224|PMID:22920929|PMID:24033266|PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:731878 D RGD:12914786|PMID:22647876 20170713 RGD 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:731878 D RGD:12914788|PMID:25028484 20170713 RGD DNA:missense mutation: :p.R52G (mouse) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:731878 D RGD:12914789|PMID:11073884 20170713 RGD 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISS RGD:731878 D RGD:13592920 20190418 MouseDO 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease no_association ISO RGD:1606841 D RGD:7247738|PMID:23285148 20130730 RGD DNA:missense mutation: :p.A119S (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1882 atrial heart septal defect ISO RGD:1606841 D RGD:12914794|PMID:21188375 20170713 RGD DNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1882 atrial heart septal defect ISO RGD:1606841 D RGD:12914795|PMID:25742962 20170713 RGD DNA:frameshift mutation:exon:p.G206Fs*231 (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:1882 atrial heart septal defect ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:10587520|PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:3770 pulmonary fibrosis IEP D RGD:5131637|PMID:19395679 20110506 RGD mRNA:decreased expression:lung, fibroblast 620520 Nkx2-5 NK2 homeobox 5 gene DOID:450 myotonic disease ISO RGD:1606841 D RGD:11554173 20200526 CTD CTD Direct Evidence: marker/mechanism PMID:18084293 620520 Nkx2-5 NK2 homeobox 5 gene DOID:630 genetic disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587520|PMID:11714651|PMID:15689439|PMID:22920929|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34214246 620520 Nkx2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:1581133|PMID:11714651 19990101 RGD DNA:missense mutations:cds:multiple (human) 620520 Nkx2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:7240710 20130221 OMIM 620520 Nkx2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10587520|PMID:25741868|PMID:28492532 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731878 D RGD:12914774|PMID:11457872 20170712 RGD 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:7240710 20140903 OMIM 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 3 PMID:10587520|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:17544441|PMID:18414213|PMID:19933292|PMID:20659440|PMID:21110066|PMID:21165553|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9003735 Splenic Hypoplasia ISO RGD:1606841 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9003936 Cardiomegaly ISO RGD:1606841 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28973413 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:7240710 20140911 OMIM 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:10021345|PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20725931|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33835496|PMID:34214246|PMID:9651244 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9007096 Stroke ISO RGD:1606841 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:7240710 20180530 OMIM 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9008306 Common Ventricle ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Single ventricle PMID:19948535|PMID:23285148|PMID:25742962|PMID:28492532|PMID:29037160|PMID:30611920 620520 Nkx2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606841 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620521 Plscr1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 620521 Plscr1 phospholipid scramblase 1 gene DOID:630 genetic disease ISO RGD:1350472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620521 Plscr1 phospholipid scramblase 1 gene DOID:9001488 Human Influenza ISO RGD:1350472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 620521 Plscr1 phospholipid scramblase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620522 Lmnb1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:10044243|PMID:16951681 20150604 RGD DNA:duplication:cds (human) 620522 Lmnb1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:7240710 20170503 OMIM 620522 Lmnb1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature PMID:16951681|PMID:19151023|PMID:21225301|PMID:21909802|PMID:23649844|PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 620522 Lmnb1 lamin B1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620522 Lmnb1 lamin B1 gene DOID:0080600 COVID-19 ISO RGD:733220 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620522 Lmnb1 lamin B1 gene DOID:10907 microcephaly ISO RGD:733220 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620522 Lmnb1 lamin B1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:733220 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620522 Lmnb1 lamin B1 gene DOID:3910 lung adenocarcinoma ISO RGD:733220 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620522 Lmnb1 lamin B1 gene DOID:630 genetic disease ISO RGD:733220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 620522 Lmnb1 lamin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733220 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620522 Lmnb1 lamin B1 gene DOID:9006205 Animal Disease Models ISO RGD:733220 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620522 Lmnb1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:7240710 20210303 OMIM 620522 Lmnb1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant PMID:25741868|PMID:32910914|PMID:33033404 620522 Lmnb1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 620522 Lmnb1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620523 Tcf21 transcription factor 21 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1351692 D RGD:329337362|PMID:28346832 20230428 RGD DNA:SNPs:3'UTR: (rs12190287) (human) 620523 Tcf21 transcription factor 21 gene DOID:3393 coronary artery disease ISO RGD:1351692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097 620523 Tcf21 transcription factor 21 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351692 D RGD:329337364|PMID:26909569 20230428 RGD DNA:SNP: (rs12190287) (human) 620523 Tcf21 transcription factor 21 gene DOID:630 genetic disease ISO RGD:1351692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620523 Tcf21 transcription factor 21 gene DOID:9007614 Paroxysmal Atrial Fibrillation susceptibility ISO RGD:1351692 D RGD:329337356|PMID:35601004 20230428 RGD DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human) 620524 Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 620524 Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733241 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620524 Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:630 genetic disease ISO RGD:733241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:735513 D RGD:151356909|PMID:32015322 20220216 RGD 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080600 COVID-19 ISO RGD:735512 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0111940 immunodeficiency 42 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer ISO RGD:735512 D RGD:151356999|PMID:28274596 20220222 RGD protein:increased expression:stomach (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer severity ISO RGD:735512 D RGD:151356929|PMID:25482013 20220217 RGD protein:increased expression:stomach (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer severity ISO RGD:735512 D RGD:151356982|PMID:25672320 20220222 RGD protein:increased expression:stomach (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1115 sarcoma ISO RGD:735512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15217956 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:151356930|PMID:28776569 20220217 RGD protein:increased expression:lung (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:151356991|PMID:21887682 20220222 RGD DNA:SNP:promoter:-190indel, -235C>A, (rs3831987,rs3738484) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ameliorates ISO RGD:735512 D RGD:151356915|PMID:31662324 20220216 RGD human cells in mouse model 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1540 parathyroid carcinoma ISO RGD:735512 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:219 colon cancer ameliorates ISO RGD:735512 D RGD:151356919|PMID:29899555 20220216 RGD human cells in mouse model 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ISO RGD:735512 D RGD:9068941 20220825 RGD protein:increased expression:lung, cytoplasm (human) PMID:24469836|REF_RGD_ID:151356906 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735512 D RGD:151357000|PMID:32276600 20220222 RGD human cells in mouse model 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:151356750|PMID:29567880 20220215 RGD protein:increased expression:lung, cytoplasm (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:151356758|PMID:27264345 20220215 RGD DNA:mutations:multiple 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:31662324|PMID:32945371|REF_RGD_ID:151356915|REF_RGD_ID:151356931 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma severity ISO RGD:735512 D RGD:151356911|PMID:31200834 20220216 RGD mRNA:increased expression:lung (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma treatment ISO RGD:735512 D RGD:151356911|PMID:31200834 20220216 RGD human cells in mouse model 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:5812 MHC class II deficiency ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:630 genetic disease ISO RGD:735512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002189 High Myopia ISO RGD:735512 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002245 Intestinal Neoplasms ISO RGD:735513 D RGD:151356755|PMID:32179094 20220215 RGD 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9005172 Lung Neoplasms ISO RGD:735512 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:19903766|PMID:27935865 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9065 leishmaniasis ISO RGD:735512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670606 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9206 Barrett's esophagus ISO RGD:735512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735512 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:151356738|PMID:32619164 20220210 RGD DNA:SNP:promoter: (rs9803935) (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:151356919|PMID:29899555 20220216 RGD mRNA,protein:increased expression:colon (human) 620525 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9538 multiple myeloma ISO RGD:735512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 620526 Kif4a kinesin family member 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342700 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620526 Kif4a kinesin family member 4A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1342700 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 620526 Kif4a kinesin family member 4A gene DOID:0080600 COVID-19 ISO RGD:1342700 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620526 Kif4a kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:7240710 20171011 OMIM 620526 Kif4a kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 100 PMID:25741868|PMID:28492532 620526 Kif4a kinesin family member 4A gene DOID:1059 intellectual disability ISO RGD:1342700 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 620526 Kif4a kinesin family member 4A gene DOID:12849 autistic disorder ISO RGD:1342700 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620526 Kif4a kinesin family member 4A gene DOID:1826 epilepsy ISO RGD:1342700 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 620526 Kif4a kinesin family member 4A gene DOID:630 genetic disease ISO RGD:1342700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620526 Kif4a kinesin family member 4A gene DOID:684 hepatocellular carcinoma ISO RGD:1342700 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620526 Kif4a kinesin family member 4A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1342700 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 620526 Kif4a kinesin family member 4A gene DOID:9970 obesity ISO RGD:1342700 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0050753 cerebellar ataxia ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:17576681|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732036 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0081097 Rafiq syndrome ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:7240710 20180411 OMIM 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K PMID:12515039|PMID:16542579|PMID:19780766|PMID:23829769|PMID:24027061|PMID:25741868|PMID:27896082|PMID:28492532 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:0111180 French Canadian Leigh disease ISO RGD:732036 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:1059 intellectual disability ISO RGD:732036 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732036 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:16765830 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:1599193|PMID:9843204 20070119 RGD 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:9536098|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:15214016|PMID:16199547|PMID:16542579|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:12515039|PMID:15214016|PMID:16199547|PMID:16542579|PMID:17576681|PMID:19780766|PMID:20624914|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:27896082|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:33134083|PMID:35693685|PMID:9536098|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:630 genetic disease ISO RGD:732036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10443880|PMID:25741868|PMID:26944241|PMID:27756633|PMID:28492532|PMID:29933018|PMID:33134083|PMID:9837813|PMID:9843204 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:732036 D RGD:7240710 20201111 OMIM 620527 Surf1 SURF1, cytochrome c oxidase assembly factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732036 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:16765830 620528 Aox1 aldehyde oxidase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733539 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620528 Aox1 aldehyde oxidase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733539 D RGD:734575|PMID:7570184 19990101 RGD 620528 Aox1 aldehyde oxidase 1 gene DOID:630 genetic disease ISO RGD:733539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620528 Aox1 aldehyde oxidase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733539 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620528 Aox1 aldehyde oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733539 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 620528 Aox1 aldehyde oxidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733539 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620529 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:12858 Huntington's disease ISO RGD:731328 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21652713 620529 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:731328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620529 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:731328 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 620529 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737489 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:630 genetic disease ISO RGD:737489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 62053 Csrp1 cysteine and glycine-rich protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737489 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620531 Slc17a6 solute carrier family 17 member 6 gene DOID:1059 intellectual disability ISO RGD:730912 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620531 Slc17a6 solute carrier family 17 member 6 gene DOID:224 transient cerebral ischemia IEP D RGD:9999193|PMID:23458738 20150410 RGD 620531 Slc17a6 solute carrier family 17 member 6 gene DOID:630 genetic disease ISO RGD:730912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620531 Slc17a6 solute carrier family 17 member 6 gene DOID:8927 learning disability ISO RGD:730912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 620531 Slc17a6 solute carrier family 17 member 6 gene DOID:9008023 Memory Disorders ISO RGD:730912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 620532 Gabrp gamma-aminobutyric acid type A receptor subunit pi gene DOID:630 genetic disease ISO RGD:737032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder IEP D RGD:1643202|PMID:15976529 20071214 RGD protein:increased expression:cerebral cortex 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:731475 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14598306 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:7240710 20150722 OMIM 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31176687|PMID:31273778|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33961861|PMID:34006619|PMID:34489640|PMID:9536098 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:1059 intellectual disability ISO RGD:731475 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:1826 epilepsy IEP D RGD:1643214|PMID:12196583 20071214 RGD protein:decreased expression:hippocampus 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:1826 epilepsy ISO RGD:731475 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:1826 epilepsy ISO RGD:731475 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:32581362 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:2316 brain ischemia IMP D RGD:1643209|PMID:15084665 20071214 RGD 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20132478 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:1643206|PMID:15248296 20071214 RGD protein:decreased expression:hippocampus 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:3526 cerebral infarction IEP D RGD:1643205|PMID:15349978 20071214 RGD mRNA:increased expression:cerebral cortex, neuron 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:630 genetic disease ISO RGD:731475 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12451126|PMID:17576681|PMID:22495306|PMID:23020937|PMID:24859339|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:28492532|PMID:29315614|PMID:9536098|PMID:9623887 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9000641 Pain ISO RGD:731476 D RGD:1643217|PMID:17918738 20071214 RGD 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9004012 Nervous System Lead Poisoning, Adult IEP D RGD:1643208|PMID:15149801 20071214 RGD protein:increased expression:brain, synaptosome 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731475 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27541642|PMID:28492532 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731475 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25363768|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30132828|PMID:31332282|PMID:31981491|PMID:32581362 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 620533 Slc6a1 solute carrier family 6 member 1 gene DOID:9970 obesity ISO RGD:731476 D RGD:1643191|PMID:11191352 20071213 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:2377 multiple sclerosis ISO RGD:733798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 620535 Cblb Cbl proto-oncogene B gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733798 D RGD:150540336|PMID:29384143 20220104 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733798 D RGD:126925239|PMID:29707316 20210518 RGD DNA:SNPs: :rs2305035, rs9657904 (human) 620535 Cblb Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:733798 D RGD:126925239|PMID:29707316 20210518 RGD DNA:SNPs: :rs3772534 (human) 620535 Cblb Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733798 D RGD:150540334|PMID:26732495 20220104 RGD DNA:SNP,haplotype: :rs2305035(human) 620535 Cblb Cbl proto-oncogene B gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733798 D RGD:150540337|PMID:28334634 20220104 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:5517 stomach carcinoma severity ISO RGD:733798 D RGD:150540338|PMID:20038312 20220104 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:630 genetic disease ISO RGD:733798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620535 Cblb Cbl proto-oncogene B gene DOID:9000081 Lymphatic Metastasis ISO RGD:733798 D RGD:150540338|PMID:20038312 20220104 RGD associated with stomach carcinoma; 620535 Cblb Cbl proto-oncogene B gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:126925240|PMID:30021515 20210518 RGD mRNA:increased expression:spinal cord 620535 Cblb Cbl proto-oncogene B gene DOID:9002457 Experimental Arthritis IMP D RGD:2306289|PMID:16984225 20090416 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 620535 Cblb Cbl proto-oncogene B gene DOID:9007692 Insulin Resistance ISO RGD:733799 D RGD:2314038|PMID:17601987 20091030 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:733798 D RGD:150540334|PMID:26732495 20220104 RGD associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human) 620535 Cblb Cbl proto-oncogene B gene DOID:9009121 lung metastasis severity ISO RGD:733798 D RGD:150540337|PMID:28334634 20220104 RGD associated with stomach carcinoma; 620535 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus IDA D RGD:625457|PMID:12118252 19990101 RGD 620535 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:2314037|PMID:18201552 20091030 RGD DNA:missense mutations: :multiple (human) 620535 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:2314040|PMID:15629882 20091030 RGD DNA:SNP:exon:rs3772534 (human) 620535 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:2314039|PMID:17209142 20091030 RGD DNA:SNP:exon:rs3772534 (human) 620535 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:2314041|PMID:14961073 20091030 RGD DNA:SNPs: :multiple (human) 620535 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:625457|PMID:12118252 20091030 RGD DNA:nonsense mutation (rat) 620536 Ppp1r14a protein phosphatase 1, regulatory (inhibitor) subunit 14A gene DOID:10534 stomach cancer severity ISO RGD:733523 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 620536 Ppp1r14a protein phosphatase 1, regulatory (inhibitor) subunit 14A gene DOID:630 genetic disease ISO RGD:733523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620536 Ppp1r14a protein phosphatase 1, regulatory (inhibitor) subunit 14A gene DOID:9003566 Mesothelioma ISO RGD:733523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18835652 620536 Ppp1r14a protein phosphatase 1, regulatory (inhibitor) subunit 14A gene DOID:9008443 Colorectal Neoplasms ISO RGD:733523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 620537 C3ar1 complement C3a receptor 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 620537 C3ar1 complement C3a receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353843 D RGD:8554872 20160419 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 620537 C3ar1 complement C3a receptor 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1353843 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 620537 C3ar1 complement C3a receptor 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1353843 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 620537 C3ar1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620537 C3ar1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620537 C3ar1 complement C3a receptor 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 620537 C3ar1 complement C3a receptor 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1353843 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 620537 C3ar1 complement C3a receptor 1 gene DOID:10283 prostate cancer ISO RGD:1353843 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620537 C3ar1 complement C3a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment IMP D RGD:2303017|PMID:16782534 20180926 RGD 620537 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma IEP D RGD:5129560|PMID:17544263 20110404 RGD protein:increased expression:lung, leukocyte 620537 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:5129681|PMID:20802484 20110405 RGD 620537 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:5129686|PMID:20045013 20110405 RGD mRNA:increased expression:lung 620537 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma severity ISO RGD:1353843 D RGD:5129512|PMID:15278436 20110404 RGD 620537 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma severity ISO RGD:1353843 D RGD:5129561|PMID:15940127 20110404 RGD 620537 C3ar1 complement C3a receptor 1 gene DOID:4483 rhinitis severity ISO RGD:1353843 D RGD:5129559|PMID:18538384 20110404 RGD protein:increased expression:nasal cavity 620537 C3ar1 complement C3a receptor 1 gene DOID:552 pneumonia ISO RGD:731620 D RGD:5129688|PMID:17079327 20110405 RGD associated with Respiratory Syncytial Virus Infections 620537 C3ar1 complement C3a receptor 1 gene DOID:630 genetic disease ISO RGD:1353843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620537 C3ar1 complement C3a receptor 1 gene DOID:850 lung disease IEP D RGD:5129560|PMID:17544263 20110405 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte 620537 C3ar1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:5129564|PMID:21421909 20110404 RGD Acute Lung Injury 620537 C3ar1 complement C3a receptor 1 gene DOID:874 bacterial pneumonia ISO RGD:731620 D RGD:5129690|PMID:16461429 20110405 RGD 620537 C3ar1 complement C3a receptor 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:5129702|PMID:15159277 20110405 RGD 620537 C3ar1 complement C3a receptor 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353843 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620537 C3ar1 complement C3a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731620 D RGD:5129560|PMID:17544263 20110405 RGD protein:increased expression:lung, leukocyte 620538 Ppp1r14c protein phosphatase 1, regulatory (inhibitor) subunit 14c gene DOID:0080599 Coronavirus infectious disease ISS RGD:735967 D RGD:13592920 20200730 MouseDO 620538 Ppp1r14c protein phosphatase 1, regulatory (inhibitor) subunit 14c gene DOID:630 genetic disease ISO RGD:735966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344836 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344836 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344836 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620539 Tas1r3 taste 1 receptor member 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620539 Tas1r3 taste 1 receptor member 3 gene DOID:12336 male infertility ISO RGD:1344836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 620539 Tas1r3 taste 1 receptor member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344836 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620539 Tas1r3 taste 1 receptor member 3 gene DOID:630 genetic disease ISO RGD:1344836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620539 Tas1r3 taste 1 receptor member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344836 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620539 Tas1r3 taste 1 receptor member 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344836 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 620539 Tas1r3 taste 1 receptor member 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 62054 Pdyn prodynorphin gene DOID:0050155 sensory system disease ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19200067 62054 Pdyn prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:7240710 20130221 OMIM 62054 Pdyn prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 PMID:21035104|PMID:22243190|PMID:22287014|PMID:23108490|PMID:23355175|PMID:23471613|PMID:25741868|PMID:26467025|PMID:27528516|PMID:28492532 62054 Pdyn prodynorphin gene DOID:0080855 Parkinsonism ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9930741 62054 Pdyn prodynorphin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 62054 Pdyn prodynorphin gene DOID:10914 amnestic disorder ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7768285 62054 Pdyn prodynorphin gene DOID:11162 respiratory failure ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:6662192 62054 Pdyn prodynorphin gene DOID:13580 cholestasis ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16919318 62054 Pdyn prodynorphin gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343954 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 62054 Pdyn prodynorphin gene DOID:1574 alcohol use disorder ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17559549|PMID:18923396 62054 Pdyn prodynorphin gene DOID:3328 temporal lobe epilepsy ISO RGD:1343954 D RGD:1358556|PMID:11835385 19990101 RGD DNA:repeats:promoter: (human) 62054 Pdyn prodynorphin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 62054 Pdyn prodynorphin gene DOID:480 movement disease ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 62054 Pdyn prodynorphin gene DOID:630 genetic disease ISO RGD:1343954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 62054 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16529859 62054 Pdyn prodynorphin gene DOID:9000641 Pain ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17670969|PMID:20068450 62054 Pdyn prodynorphin gene DOID:9001443 Hypercapnia ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 62054 Pdyn prodynorphin gene DOID:9002211 Hyperalgesia ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17670969 62054 Pdyn prodynorphin gene DOID:9002669 Hypoxia ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 62054 Pdyn prodynorphin gene DOID:9004659 Respiration Disorders ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6131355 62054 Pdyn prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16184603|PMID:17559549|PMID:18575850|PMID:18923396 62054 Pdyn prodynorphin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9834947|PMID:16924480 20150310 RGD protein:increased expression:sciatic nerve, peroneal nerve, tibial nerve, footpad skin: 62054 Pdyn prodynorphin gene DOID:9006024 Hypotension ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:6131355 62054 Pdyn prodynorphin gene DOID:9006202 Pruritus ISO RGD:1343954 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 62054 Pdyn prodynorphin gene DOID:9007001 Bradycardia ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:6131355|PMID:6716269 62054 Pdyn prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9767399|PMID:21737418 62054 Pdyn prodynorphin gene DOID:9008675 Dyskinesias ISO RGD:1343954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21984936 620541 Inpp5j inositol polyphosphate-5-phosphatase J gene DOID:630 genetic disease ISO RGD:1349321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620542 Rbm14 RNA binding motif protein 14 gene DOID:1059 intellectual disability ISO RGD:1321805 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620542 Rbm14 RNA binding motif protein 14 gene DOID:630 genetic disease ISO RGD:1321805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620542 Rbm14 RNA binding motif protein 14 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620542 Rbm14 RNA binding motif protein 14 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620543 Dcbld2 discoidin, CUB and LCCL domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 620543 Dcbld2 discoidin, CUB and LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1346250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620543 Dcbld2 discoidin, CUB and LCCL domain containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18314483 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0050748 marginal zone lymphoma ISO RGD:1347575 D RGD:11554173 20180529 CTD CTD Direct Evidence: marker/mechanism 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1347575 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Follicular lymphoma PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:7240710 20180523 OMIM 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: MALT lymphoma PMID:10380920|PMID:10408400|PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347575 D RGD:7240710 20151028 OMIM 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:7240710 20170503 OMIM 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 37 PMID:17576681|PMID:24033266|PMID:25365219|PMID:25741868|PMID:28492532|PMID:32008135|PMID:9536098 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:1520 colon carcinoma ISO RGD:1347575 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:7240710 20131030 OMIM 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic PMID:10380920|PMID:10408400|PMID:25741868|PMID:28492532|PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:2998 testicular cancer ISO RGD:1347575 D RGD:8554872 20200317 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:10582682 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347575 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:630 genetic disease ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:8541 Sezary's disease ISO RGD:1347575 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Sezary syndrome PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:9003566 Mesothelioma ISO RGD:1347575 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:10380920|PMID:10408400|PMID:9989495 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:7240710 20190315 OMIM 620544 Bcl10 BCL10, immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:8554872 20160614 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic PMID:10380920|PMID:10408400|PMID:9989495 620545 Chek1 checkpoint kinase 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 620545 Chek1 checkpoint kinase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732292 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 620545 Chek1 checkpoint kinase 1 gene DOID:10283 prostate cancer ISO RGD:732292 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620545 Chek1 checkpoint kinase 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732292 D RGD:2317234|PMID:18381943 20100322 RGD DNA:SNP: :35G>A (human) 620545 Chek1 checkpoint kinase 1 gene DOID:5419 schizophrenia ISO RGD:732292 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620545 Chek1 checkpoint kinase 1 gene DOID:630 genetic disease ISO RGD:732292 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620545 Chek1 checkpoint kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732292 D RGD:2317235|PMID:15448002 20100322 RGD associated with Pancreatic Neoplasms 620545 Chek1 checkpoint kinase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732292 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620545 Chek1 checkpoint kinase 1 gene DOID:9005779 Polyploidy ISO RGD:732292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 620545 Chek1 checkpoint kinase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104 620545 Chek1 checkpoint kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732292 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620545 Chek1 checkpoint kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25688741 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348942 D RGD:13209009|PMID:17503513 20170828 RGD DNA:nonsense, missense mutations:introns,exons: 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1348942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27782104|PMID:28492532|PMID:31103315 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:19542096|PMID:24319099|PMID:25741868|PMID:26467025|PMID:27086870|PMID:28492532 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:7240710 20180711 OMIM 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23352163|PMID:23959263|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24388756|PMID:24892279|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25741868|PMID:25976027|PMID:26302956|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28750076|PMID:29625556|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30610203|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:9536098 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348942 D RGD:13209012|PMID:19542096 20170828 RGD DNA:mutation:splice junction: 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:7240710 20190814 OMIM 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:19542096|PMID:24319099|PMID:24838835|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27782104|PMID:28492532 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348942 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:13209001|PMID:27086870 20170828 RGD DNA:mutations:multiple: 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:7240710 20130221 OMIM 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:16199547|PMID:17159980|PMID:17503513|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:19944109|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23325900|PMID:23352163|PMID:23959263|PMID:24033266|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24366360|PMID:24388756|PMID:24838835|PMID:24892279|PMID:25091525|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25640679|PMID:25741868|PMID:25843669|PMID:25976027|PMID:26302956|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:27671794|PMID:27782104|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28687974|PMID:28750076|PMID:28798025|PMID:29077258|PMID:29389947|PMID:29482223|PMID:29625556|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30573412|PMID:30610203|PMID:30619065|PMID:31103315|PMID:31127727|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:32348865|PMID:32488064|PMID:32870032|PMID:32889669|PMID:34368859|PMID:34602496|PMID:9536098 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:1059 intellectual disability ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17761684|PMID:23352163|PMID:24123876|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:28492532|PMID:30564623|PMID:31692161 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348942 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733674 D RGD:13209003|PMID:19008300 20170828 RGD DNA:deletion:cds: 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:303 substance-related disorder ISO RGD:1348942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3070 high grade glioma ISO RGD:1348942 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1348942 D RGD:13209005|PMID:28178086 20170828 RGD DNA:SNPs:promoter,intron: 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:630 genetic disease ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27378695|PMID:27782104|PMID:28492532|PMID:31103315 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1348942 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000495 Tremor ISO RGD:1348942 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Tremor 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348942 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 620546 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9884 muscular dystrophy ISO RGD:1348942 D RGD:13209008|PMID:25091525 20170828 RGD DNA:mutation:cds: c.323C>T, p.N108S(human) 620547 Spam1 sperm adhesion molecule 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347791 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620547 Spam1 sperm adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1347791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620548 Cox17 cytochrome c oxidase copper chaperone COX17 gene DOID:630 genetic disease ISO RGD:733581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620548 Cox17 cytochrome c oxidase copper chaperone COX17 gene DOID:9005172 Lung Neoplasms ISO RGD:733581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 620548 Cox17 cytochrome c oxidase copper chaperone COX17 gene DOID:9008510 Chronic Hepatitis ISO RGD:733581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 620549 Ryk receptor-like tyrosine kinase gene DOID:630 genetic disease ISO RGD:1346179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620549 Ryk receptor-like tyrosine kinase gene DOID:674 cleft palate ISO RGD:1346179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 620549 Ryk receptor-like tyrosine kinase gene DOID:9004657 Weight Gain ISO RGD:1346179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 620549 Ryk receptor-like tyrosine kinase gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346179 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 620549 Ryk receptor-like tyrosine kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346179 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 62055 Limk1 LIM domain kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732406 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 62055 Limk1 LIM domain kinase 1 gene DOID:10923 sickle cell anemia ISO RGD:732406 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 62055 Limk1 LIM domain kinase 1 gene DOID:12849 autistic disorder ISO RGD:732406 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62055 Limk1 LIM domain kinase 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 62055 Limk1 LIM domain kinase 1 gene DOID:1928 Williams-Beuren syndrome ISS RGD:62347 D RGD:13592920 20180518 MouseDO OMIM:194050 62055 Limk1 LIM domain kinase 1 gene DOID:1929 supravalvular aortic stenosis ISO RGD:732406 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 62055 Limk1 LIM domain kinase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732406 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 62055 Limk1 LIM domain kinase 1 gene DOID:5419 schizophrenia ISO RGD:732406 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62055 Limk1 LIM domain kinase 1 gene DOID:630 genetic disease ISO RGD:732406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62055 Limk1 LIM domain kinase 1 gene DOID:8445 intestinal volvulus ISO RGD:732406 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 62055 Limk1 LIM domain kinase 1 gene DOID:9002189 High Myopia ISO RGD:732406 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 62055 Limk1 LIM domain kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732406 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62055 Limk1 LIM domain kinase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:732406 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620550 Myt1l myelin transcription factor 1-like gene DOID:0060041 autism spectrum disorder ISO RGD:731726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620550 Myt1l myelin transcription factor 1-like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:7240710 20170201 OMIM 620550 Myt1l myelin transcription factor 1-like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, AND OBESITY PMID:23033978|PMID:25232846|PMID:25741868|PMID:28492532|PMID:28859103|PMID:30055078|PMID:30796847|PMID:33622623 620550 Myt1l myelin transcription factor 1-like gene DOID:1059 intellectual disability ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28859103|PMID:30055078 620550 Myt1l myelin transcription factor 1-like gene DOID:12849 autistic disorder ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 620550 Myt1l myelin transcription factor 1-like gene DOID:630 genetic disease ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620550 Myt1l myelin transcription factor 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731726 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 620550 Myt1l myelin transcription factor 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731726 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620551 Tmf1 TATA element modulatory factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732153 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 620551 Tmf1 TATA element modulatory factor 1 gene DOID:630 genetic disease ISO RGD:732153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620551 Tmf1 TATA element modulatory factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732153 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 620552 Ninj2 ninjurin 2 gene DOID:630 genetic disease ISO RGD:1352493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620552 Ninj2 ninjurin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352493 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620553 Ptprh protein tyrosine phosphatase, receptor type, H gene DOID:0110936 nemaline myopathy 5 ISO RGD:1345629 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:28492532 620553 Ptprh protein tyrosine phosphatase, receptor type, H gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345629 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 620553 Ptprh protein tyrosine phosphatase, receptor type, H gene DOID:630 genetic disease ISO RGD:1345629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733716 D RGD:8554872 20191105 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:630 genetic disease ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15308132|PMID:15752612|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10916782|PMID:14518825|PMID:15122894|PMID:15308132|PMID:16199547|PMID:16330550|PMID:17173698|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:8798725|PMID:9439591|PMID:9463337|PMID:9784232|PMID:9817922 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2326171|PMID:5667251 20100628 RGD protein:increased activity:liver (rat) 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:7240710 20130221 OMIM 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:10916782|PMID:11129331|PMID:11461194|PMID:12746442|PMID:14518825|PMID:15122894|PMID:15308132|PMID:15752612|PMID:16199547|PMID:16330550|PMID:16601870|PMID:17173698|PMID:17576681|PMID:17628222|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:20532825|PMID:23465862|PMID:2443756|PMID:25741868|PMID:25872961|PMID:28220407|PMID:28257639|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:32059735|PMID:6085636|PMID:7479590|PMID:8617516|PMID:8798725|PMID:8978493|PMID:9163320|PMID:9439591|PMID:9463337|PMID:9536098|PMID:9784232|PMID:9817922 620554 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:733716 D RGD:1599500|PMID:8440722 20070206 RGD Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0060260 ptosis ISO RGD:1349540 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Ptosis PMID:25741868 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1349540 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:15972314|PMID:8104867 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15708009|PMID:15841390|PMID:15917167|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:17341440|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22475488|PMID:22879993|PMID:22992668|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:25155176|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:0111751 mitochondrial nonsyndromic sensorineural deafness ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15708009|PMID:15841390|PMID:15917167|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:17341440|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22241583|PMID:22475488|PMID:22879993|PMID:22992668|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:25155176|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:10632 Wolfram syndrome ISO RGD:1349540 D RGD:5490247|PMID:9309689 20110909 RGD DNA:snp:cds:m.4216T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349540 D RGD:5490287|PMID:15075441 20110913 RGD mRNA:decreased expression:frontal cortex, Brodmann area 9 (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349540 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:15972314|PMID:8104867 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:1073 renal hypertension ISO RGD:1349540 D RGD:2300400|PMID:18194667 20080917 RGD DNA:missense mutation 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:12010 anterior ischemic optic neuropathy ISO RGD:1349540 D RGD:5490236|PMID:17454741 20110909 RGD DNA:snp:cds:m.4132G>A (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:12705 Friedreich ataxia ISO RGD:1349540 D RGD:5490251|PMID:18807169 20110909 RGD DNA:missense mutation:cds:m.3696C>T (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:1349540 D RGD:5148017|PMID:19487983 20110901 RGD associated with Burns; DNA:missense mutation:cds:m.4216T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14330 Parkinson's disease ISO RGD:1349540 D RGD:5148018|PMID:11022854 20110901 RGD DNA:missense mutation:cds:m.4216T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14330 Parkinson's disease ISO RGD:1349540 D RGD:8657117|PMID:11506395 20140602 RGD mRNA:decreased expression:substantia nigra, neuron 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1349540 D RGD:5508706|PMID:16784756 20111020 RGD DNA:missense mutation:cds:m.4216T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1349540 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:11854175|PMID:1550131|PMID:16738010|PMID:1674640|PMID:1732158|PMID:1734726|PMID:17620555|PMID:1900003|PMID:1928099|PMID:1959619|PMID:20301353|PMID:25741868|PMID:30143805|PMID:8496715 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:1520 colon carcinoma ISO RGD:1349540 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10519336|PMID:10521313|PMID:13298683|PMID:15972314|PMID:24146900|PMID:26467025|PMID:9299504|PMID:9806551 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:1891 optic nerve disease ISO RGD:1349540 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Optic nerve disorder PMID:20301353|PMID:30143805 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:2377 multiple sclerosis ISO RGD:1349540 D RGD:5490252|PMID:18566918 20110909 RGD DNA:amplification:cds:cerebral gray matter (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3312 bipolar disorder ISO RGD:1349540 D RGD:5490261|PMID:15533721 20110912 RGD DNA:missense mutation:cds:m.3644T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1609862 D RGD:5490286|PMID:10581412 20110913 RGD mRNA:increased expression:brain (mouse) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3652 Leigh disease ISO RGD:1349540 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10519336|PMID:10520236|PMID:10521313|PMID:10704697|PMID:11238687|PMID:11854175|PMID:11938495|PMID:12160969|PMID:12406974|PMID:12610069|PMID:12756609|PMID:13298683|PMID:1417830|PMID:1442494|PMID:14681830|PMID:15465027|PMID:15466014|PMID:1550131|PMID:15896721|PMID:15972314|PMID:15977098|PMID:16050984|PMID:16738010|PMID:1674640|PMID:16807713|PMID:16828917|PMID:16849371|PMID:16895436|PMID:16949108|PMID:1732158|PMID:1734726|PMID:17454741|PMID:17517629|PMID:17535832|PMID:17620555|PMID:17637808|PMID:18216301|PMID:18502698|PMID:18504678|PMID:18691441|PMID:18977334|PMID:1900003|PMID:1928099|PMID:1959619|PMID:20211276|PMID:20301353|PMID:20643099|PMID:20978534|PMID:21129724|PMID:21144833|PMID:21296687|PMID:21364701|PMID:22241583|PMID:22780954|PMID:23246842|PMID:24063851|PMID:24146900|PMID:24153443|PMID:24986921|PMID:25741868|PMID:26262956|PMID:26428318|PMID:26467025|PMID:27177320|PMID:27343181|PMID:28187756|PMID:28708239|PMID:28821228|PMID:29330893|PMID:30143805|PMID:32906214|PMID:8104867|PMID:8496715|PMID:9299504|PMID:9806551 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3687 MELAS syndrome ISO RGD:1349540 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3687 MELAS syndrome ISO RGD:1349540 D RGD:5490235|PMID:15466014 20110909 RGD DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:3687 MELAS syndrome ISO RGD:1349540 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes PMID:15466014|PMID:15972314|PMID:16849371|PMID:16969869|PMID:17535832|PMID:17562939|PMID:18504678|PMID:18590963|PMID:18977334|PMID:20301353|PMID:21364701|PMID:24830958|PMID:25741868|PMID:30143805|PMID:32906214 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15708009|PMID:15841390|PMID:15917167|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:17341440|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22475488|PMID:22879993|PMID:22992668|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:25155176|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:543 dystonia ISO RGD:1349540 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Dystonia, adult-onset PMID:11938495|PMID:12756609|PMID:26467025|PMID:28821228 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1349540 D RGD:5490230|PMID:17684475 20110908 RGD associated with HIV Infections; DNA:missense mutation:cds:m.4216T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1349540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder PMID:10521300|PMID:10577941|PMID:10633132|PMID:10661905|PMID:10788333|PMID:10915767|PMID:11174059|PMID:11230176|PMID:11388757|PMID:11479733|PMID:11857751|PMID:11870684|PMID:12031626|PMID:12054632|PMID:12112111|PMID:12127547|PMID:12372057|PMID:12624722|PMID:12655418|PMID:12920080|PMID:12939650|PMID:12955586|PMID:14699607|PMID:14755216|PMID:15466014|PMID:15505787|PMID:15708009|PMID:15841390|PMID:15917167|PMID:15972314|PMID:1613771|PMID:16152638|PMID:16168391|PMID:16375862|PMID:16458854|PMID:16631122|PMID:16826519|PMID:16935512|PMID:16955413|PMID:16969869|PMID:17341440|PMID:17562939|PMID:17637808|PMID:17723226|PMID:17999439|PMID:18386806|PMID:18790089|PMID:18820594|PMID:18830133|PMID:18983818|PMID:19196684|PMID:19196685|PMID:19376484|PMID:19475720|PMID:19497304|PMID:19555656|PMID:19687236|PMID:19818876|PMID:19835846|PMID:20100600|PMID:20111055|PMID:20172897|PMID:20301353|PMID:20301595|PMID:20353758|PMID:20416460|PMID:21047563|PMID:21162657|PMID:21205314|PMID:21329993|PMID:21495045|PMID:21504270|PMID:21725156|PMID:21777984|PMID:21811586|PMID:21828074|PMID:22223843|PMID:22475488|PMID:22879922|PMID:22879993|PMID:22992668|PMID:23246842|PMID:23256547|PMID:23525847|PMID:24033266|PMID:24252789|PMID:24651602|PMID:24703164|PMID:24830958|PMID:24884847|PMID:25155176|PMID:25194554|PMID:25515069|PMID:25741868|PMID:25744662|PMID:26497601|PMID:26822237|PMID:27427311|PMID:28049726|PMID:28520359|PMID:29805548|PMID:30143805|PMID:32906214|PMID:7689389|PMID:8285309|PMID:8414970|PMID:8687424|PMID:8817331|PMID:9039999|PMID:9111378|PMID:9164619|PMID:9315872|PMID:9391883|PMID:9490575|PMID:9779807|PMID:9831149|PMID:9887373|PMID:9915970|PMID:9950117 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:15342361|PMID:15505787|PMID:24569607|PMID:27449621|PMID:29991444 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:5508187|PMID:20454697 20111006 RGD DNA:transition:CDS:c.3460G>A, p.A52T (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:5508685|PMID:11479733 20110907 RGD DNA:snp:cds:m.3635G>A (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:5508689|PMID:19324017 20111019 RGD DNA:snp:cds:m.3394T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:5508712|PMID:2018041 20111020 RGD DNA:snps:cds:m.4136A>G, m.4160T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy PMID:11479733|PMID:11854175|PMID:12112111|PMID:1417830|PMID:1442494|PMID:15466014|PMID:1550131|PMID:15505787|PMID:15972314|PMID:16738010|PMID:1674640|PMID:16849371|PMID:16969869|PMID:1732158|PMID:1734726|PMID:17562939|PMID:17620555|PMID:18216301|PMID:1900003|PMID:1928099|PMID:19497304|PMID:19555656|PMID:1959619|PMID:20301353|PMID:21364701|PMID:22879922|PMID:24830958|PMID:24884847|PMID:25194554|PMID:25741868|PMID:30143805|PMID:32906214|PMID:8496715 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:8657116|PMID:22577081 20140602 RGD DNA:missense mutation:cds:m.3866T>C (p.I187T) (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1349540 D RGD:8657118|PMID:12112111 20140602 RGD DNA:missense mutation:cds:p.L289M (m.4171C>A) (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349540 D RGD:5490238|PMID:15987486 20110909 RGD DNA:missense mutations:cds:multiple (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1349540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11854175|PMID:1550131|PMID:16738010|PMID:1674640|PMID:1732158|PMID:1734726|PMID:17620555|PMID:17637808|PMID:1900003|PMID:1928099|PMID:1959619|PMID:20301353|PMID:22241583|PMID:25741868|PMID:30143805|PMID:8496715 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1349540 D RGD:5148009|PMID:20301352 20110901 RGD DNA:snps:cds:p.E59K, p.R159Q (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1349540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1349540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:10519336|PMID:10521313|PMID:12160969|PMID:13298683|PMID:15972314|PMID:24146900|PMID:26467025|PMID:9299504|PMID:9806551 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1349540 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT PMID:25741868 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349540 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28027978 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2300410|PMID:14563825 20080918 RGD mRNA, protein:decreased expression:soleus, mitochondrion 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349540 D RGD:2311583|PMID:18679013 20090724 RGD DNA:SNP: :3394T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349540 D RGD:2311592|PMID:15265369 20090724 RGD DNA:polymorphism: :3316G>A, 3394T>C (human) 620555 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 gene DOID:9970 obesity ISO RGD:1349540 D RGD:2300401|PMID:16060290 20080917 RGD DNA:missense mutation: :p.A64V (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:12192017|PMID:15781840|PMID:1857422|PMID:9854792 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350157 D RGD:5507834|PMID:1370613 20111004 RGD DNA:mutation::m.5460G>A (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1350157 D RGD:5507833|PMID:1352971 20111004 RGD DNA:mutation::m.5460G>A (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:11054 urinary bladder cancer ISO RGD:1350157 D RGD:2302294|PMID:15254717 20081211 RGD DNA:deletion: :(human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:14330 Parkinson's disease ISO RGD:1350157 D RGD:2302313|PMID:8723226 20081211 RGD DNA:point mutation: :m.5460G>A (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:14330 Parkinson's disease ISO RGD:1350157 D RGD:5507832|PMID:10737123 20111004 RGD DNA:missense mutation::m.5460G>A 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:1826 epilepsy ISO RGD:1350157 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28027978 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:2377 multiple sclerosis ISO RGD:1350157 D RGD:5490259|PMID:18708297 20111004 RGD DNA:SNP::m.4917A>G (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:3652 Leigh disease ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11479733|PMID:11820805|PMID:12406974|PMID:15286228|PMID:16738010|PMID:18682780|PMID:1900003|PMID:19370763|PMID:20301353|PMID:25741868|PMID:28187756|PMID:29481798|PMID:30143805 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:5844 myocardial infarction ISO RGD:1350157 D RGD:1581054|PMID:15262184 19990101 RGD DNA:missense mutation: :m.5178C>A (p.L237M) (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1350157 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350157 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350157 D RGD:5508187|PMID:20454697 20111006 RGD DNA:transversion:CDS:c.4852T>A, p.L128Q (human) 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:11479733|PMID:1732158|PMID:1900003|PMID:20301353|PMID:30143805 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:9005950 Orthostatic Hypotension ISO RGD:1350157 D RGD:1581056|PMID:10449650 19990101 RGD 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:9007525 Leigh Syndrome Due To Mitochondrial Complex I Deficiency ISO RGD:1350157 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency PMID:16738010 620556 Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1350157 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0060067 Pearson syndrome ISO RGD:1343728 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Pearson syndrome 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343728 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11456298|PMID:14705112|PMID:17535832 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0111755 Leber hereditary optic neuropathy and dystonia ISO RGD:1343728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies PMID:17152068|PMID:17413873|PMID:19458970|PMID:25741868 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID:11456298|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:25741868 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:12858 Huntington's disease IMP D RGD:5687693|PMID:20480544 20120208 RGD 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1343728 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1343728 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:14330 Parkinson's disease IMP D RGD:5687691|PMID:21484267 20120208 RGD protein: decreased activity: striatum: rotenone model of Parkinson disease 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:14330 Parkinson's disease ISO RGD:1343728 D RGD:5491206|PMID:15975594 20111004 RGD DNA:polymorphism:exon:m.10398A>G(human) 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:14330 Parkinson's disease ISO RGD:1343728 D RGD:8554872 20161115 ClinVar ClinVar Annotator: match by term: Parkinson disease, resistance to PMID:17066297|PMID:6343397 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:14330 Parkinson's disease ISO RGD:1609861 D RGD:5687692|PMID:21291942 20120208 RGD protein: decreased activity: brain: MPTP model of Parkinson disease 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:1459 hypothyroidism IEP D RGD:2302314|PMID:7763274 20081211 RGD mRNA:decreased expression:brain, heart 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:3652 Leigh disease ISO RGD:1343728 D RGD:5507824|PMID:14705112 20120208 RGD DNA:mutation 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:3652 Leigh disease ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11456298|PMID:12227465|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17066297|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:20301353|PMID:25118196|PMID:25741868|PMID:30143805|PMID:6343397 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:700 mitochondrial metabolism disease ISO RGD:1343728 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11456298|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:20301382|PMID:25741868 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1343728 D RGD:5508703|PMID:19458970 20120208 RGD DNA: mutation 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1343728 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia PMID:12227465|PMID:17152068|PMID:17413873|PMID:19458970|PMID:20301353|PMID:25741868|PMID:30143805 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:5687694|PMID:20438613 20120208 RGD 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1343728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11456298|PMID:14684687|PMID:14705112|PMID:14764913|PMID:15372108|PMID:17152068|PMID:17413873|PMID:17535832|PMID:19458970|PMID:25741868 620557 Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1343728 D RGD:5507824|PMID:14705112 20111004 RGD DNA:mutations: :m. 10191T>C, 10158T>C(human) 620558 Cyb5a cytochrome b5 type A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736806 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 620558 Cyb5a cytochrome b5 type A gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:7240710 20130221 OMIM 620558 Cyb5a cytochrome b5 type A gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ISOLATED 17,20-LYASE DEFICIENCY, PURE PMID:20080843|PMID:22170710|PMID:25741868|PMID:3951505|PMID:8262522 620558 Cyb5a cytochrome b5 type A gene DOID:10783 methemoglobinemia ISO RGD:736806 D RGD:1599659|PMID:2107882 20070209 RGD DNA:missense mutation:cds:p.S127P (human) 620558 Cyb5a cytochrome b5 type A gene DOID:11394 adult respiratory distress syndrome ISO RGD:736806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 620558 Cyb5a cytochrome b5 type A gene DOID:11400 pyelonephritis IEP D RGD:1599663|PMID:9848217 20070209 RGD 620558 Cyb5a cytochrome b5 type A gene DOID:289 endometriosis ISO RGD:736806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 620558 Cyb5a cytochrome b5 type A gene DOID:630 genetic disease ISO RGD:736806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620558 Cyb5a cytochrome b5 type A gene DOID:6420 pulmonary valve stenosis ISO RGD:736806 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 620558 Cyb5a cytochrome b5 type A gene DOID:8445 intestinal volvulus ISO RGD:736806 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 620558 Cyb5a cytochrome b5 type A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736806 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620558 Cyb5a cytochrome b5 type A gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:11352693|PMID:7451647 20160715 RGD protein:decreased activity:erythrocyte membrane: 620558 Cyb5a cytochrome b5 type A gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:11352695|PMID:18343696 20160715 RGD DNA:missense, nonsense mutations:splice junction,cds:multiple 620558 Cyb5a cytochrome b5 type A gene DOID:9008419 Volvulus Of Midgut ISO RGD:736806 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620558 Cyb5a cytochrome b5 type A gene DOID:9637 stomatitis ISO RGD:736806 D RGD:11352692|PMID:10406239 20160715 RGD 620558 Cyb5a cytochrome b5 type A gene DOID:9970 obesity ISO RGD:736806 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:0060067 Pearson syndrome ISO RGD:1344993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1344993 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:12707444|PMID:16120329|PMID:8644732 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:10652 Alzheimer's disease ISO RGD:1344993 D RGD:5508713|PMID:10447460 20111020 RGD mRNA:decreased expression:brain 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1344993 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1344993 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:14330 Parkinson's disease ISO RGD:1344993 D RGD:5507832|PMID:10737123 20111020 RGD DNA:missense mutations: :11253T>C, 12084C>T (human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:1826 epilepsy ISO RGD:1344993 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28027978 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:3070 high grade glioma ISO RGD:1344993 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:3652 Leigh disease ISO RGD:1344993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12707444|PMID:1323207|PMID:14581685|PMID:1469456|PMID:15972314|PMID:16120329|PMID:17022785|PMID:20301353|PMID:25741868|PMID:28027978|PMID:30143805|PMID:3395302|PMID:8213827|PMID:8644732 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:3687 MELAS syndrome ISO RGD:1344993 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:1323207|PMID:3395302|PMID:8213827 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:4448 macular degeneration ISO RGD:1344993 D RGD:5508704|PMID:19434233 20111019 RGD DNA:SNP, haplotype:cds:m.11812A>G (human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:5419 schizophrenia ISO RGD:1344993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14623372 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:5419 schizophrenia ISO RGD:1344993 D RGD:5508705|PMID:16538224 20111020 RGD DNA:missense mutation:cds:p.L446H (human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:5419 schizophrenia ISO RGD:1344993 D RGD:5508711|PMID:14623372 20111020 RGD DNA:missense mutation:cds:p.I423T (human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:543 dystonia ISO RGD:1344993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28027978 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10976107|PMID:11169561|PMID:11854175|PMID:12402249|PMID:12560876|PMID:12707444|PMID:1346348|PMID:1352537|PMID:1417830|PMID:16120329|PMID:16431939|PMID:16477364|PMID:16532388|PMID:1734726|PMID:1763894|PMID:1770533|PMID:1770665|PMID:1866007|PMID:18771762|PMID:1900003|PMID:19026397|PMID:1937476|PMID:1959619|PMID:1959931|PMID:20301353|PMID:20301382|PMID:2039048|PMID:2286378|PMID:2346190|PMID:2346203|PMID:2390098|PMID:2566021|PMID:2566116|PMID:25741868|PMID:2575667|PMID:2817063|PMID:30143805|PMID:3201231|PMID:7763260|PMID:8101084|PMID:8240101|PMID:8240102|PMID:8448903|PMID:8449667|PMID:8457609|PMID:8474822|PMID:8489402|PMID:8489411|PMID:8644732|PMID:9150158 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342361|PMID:24569607 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:1581057|PMID:3201231 19990101 RGD DNA:mutation:exon:p.R340H(human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:1581058|PMID:16364244 19990101 RGD DNA:mutation: :m.11696G>A(human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:1581059|PMID:12436196 19990101 RGD 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:5491183|PMID:19022198 20110930 RGD DNA:mutation:exon: 11778G>A 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:5507829|PMID:18771762 20111004 RGD 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:5508187|PMID:20454697 20111006 RGD DNA:transition:CDS:c.11778G>A (p.R340H) (human) 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1344993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia PMID:10976107|PMID:11169561|PMID:11854175|PMID:12402249|PMID:12560876|PMID:12707444|PMID:1346348|PMID:1352537|PMID:1417830|PMID:1469456|PMID:16120329|PMID:16431939|PMID:16477364|PMID:16532388|PMID:1734726|PMID:1763894|PMID:1770533|PMID:1770665|PMID:1866007|PMID:18771762|PMID:1900003|PMID:19026397|PMID:1937476|PMID:1959619|PMID:1959931|PMID:20301353|PMID:2039048|PMID:2286378|PMID:2346190|PMID:2346203|PMID:2390098|PMID:2566021|PMID:2566116|PMID:25741868|PMID:2575667|PMID:2817063|PMID:30143805|PMID:3201231|PMID:7763260|PMID:8101084|PMID:8240101|PMID:8240102|PMID:8448903|PMID:8449667|PMID:8457609|PMID:8474822|PMID:8489402|PMID:8489411|PMID:8644732|PMID:9150158 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9000343 Vision Disorders ISO RGD:1344993 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344993 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1344993 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to PMID:10976107|PMID:11169561|PMID:11854175|PMID:12402249|PMID:12560876|PMID:1346348|PMID:1352537|PMID:1417830|PMID:16431939|PMID:16477364|PMID:16532388|PMID:1734726|PMID:1763894|PMID:1770533|PMID:1770665|PMID:1866007|PMID:18771762|PMID:1900003|PMID:19026397|PMID:1937476|PMID:1959619|PMID:1959931|PMID:20301353|PMID:2039048|PMID:2286378|PMID:2346190|PMID:2346203|PMID:2390098|PMID:2566021|PMID:2566116|PMID:25741868|PMID:2575667|PMID:2817063|PMID:30143805|PMID:3201231|PMID:7763260|PMID:8101084|PMID:8240101|PMID:8240102|PMID:8448903|PMID:8449667|PMID:8457609|PMID:8474822|PMID:8489402|PMID:8489411|PMID:9150158 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1344993 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28027978 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1344993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8662757|PMID:11695835 620559 Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1344993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:28027978 62056 Limk2 LIM domain kinase 2 gene DOID:630 genetic disease ISO RGD:733238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62056 Limk2 LIM domain kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733238 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:0060067 Pearson syndrome ISO RGD:1347448 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347448 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:18524835 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347448 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1347448 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1347448 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:20018511|PMID:25741868 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:310 MERRF Syndrome ISO RGD:1347448 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: MERRF syndrome PMID:15767514|PMID:16816025|PMID:17400793|PMID:18332249 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3652 Leigh disease ISO RGD:1347448 D RGD:5491185|PMID:18495510 20110930 RGD DNA:mutation: exon:m.13513 G>A (D393N)(human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3652 Leigh disease ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:9299505 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3652 Leigh disease ISO RGD:1347448 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22022272|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:9299505 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3687 MELAS syndrome ISO RGD:1347448 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3687 MELAS syndrome ISO RGD:1347448 D RGD:5491173|PMID:21850008 20110928 RGD DNA:mutations:exons:p. D393N, M237T (human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3687 MELAS syndrome ISO RGD:1347448 D RGD:5491184|PMID:18587274 20110930 RGD DNA:mutation:exon:m.13849A>C (N505H)(human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3687 MELAS syndrome ISO RGD:1347448 D RGD:5507825|PMID:10589546 20111004 RGD DNA:mutation:exon:m.13513G>A (D393N)(human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:3687 MELAS syndrome ISO RGD:1347448 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes PMID:10589546|PMID:12509858|PMID:12624137|PMID:12796552|PMID:14520659|PMID:14730434|PMID:15767514|PMID:16306525|PMID:16816025|PMID:17400793|PMID:18332249|PMID:18977334|PMID:20018511|PMID:22022272|PMID:22249460|PMID:22577219|PMID:25741868|PMID:26894521|PMID:9299505 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:684 hepatocellular carcinoma IEP D RGD:2302316|PMID:2507335 20081211 RGD mRNA:increased expression:liver 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:700 mitochondrial metabolism disease ISO RGD:1347448 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10589546|PMID:11198278|PMID:11938446|PMID:12624137|PMID:12736867|PMID:14520659|PMID:14730434|PMID:15521990|PMID:15767514|PMID:16306525|PMID:16816025|PMID:17317336|PMID:17400793|PMID:18332249|PMID:18977334|PMID:20301382|PMID:22249460|PMID:22577219|PMID:25741868|PMID:27164671|PMID:9299505 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:31669237 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:1581060|PMID:16240359 19990101 RGD 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:5491172|PMID:21131053 20110928 RGD DNA:mutation:: m.12338 T>C 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:5491183|PMID:19022198 20110930 RGD DNA:mutation:exon:p.Y159H(human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:5491202|PMID:16816025 20111003 RGD DNA:mutation:exon:13042G>A (A236T) (human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:5507826|PMID:1732158 20111004 RGD DNA:mutation: :m.13708G>A (human) 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1347448 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy PMID:11938446|PMID:12509858|PMID:12736867|PMID:1417830|PMID:15767514|PMID:16240359|PMID:16816025|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:18332249|PMID:18977334|PMID:1900003|PMID:20018511|PMID:20301353|PMID:21131053|PMID:22022272|PMID:22249460|PMID:22577219|PMID:25741868|PMID:27164671|PMID:30143805|PMID:8213825 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:9004538 Hearing Loss ISO RGD:1347448 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28027978 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:9007525 Leigh Syndrome Due To Mitochondrial Complex I Deficiency ISO RGD:1347448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency PMID:10589546|PMID:11938446|PMID:12509858|PMID:12624137|PMID:12796552|PMID:14520659|PMID:14730434|PMID:15767514|PMID:16306525|PMID:16816025|PMID:17317336|PMID:17400793|PMID:18332249|PMID:25741868|PMID:9299505 620560 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1347448 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient PMID:20018511|PMID:25741868 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0060067 Pearson syndrome ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:32906214|PMID:33633954 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1348759 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:18524835|PMID:21457906 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1348759 D RGD:8657128|PMID:8016139 20140603 RGD DNA:missense mutation: :m.14459G>A (p.A72V) (human) 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:0080600 COVID-19 ISO RGD:1348759 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348759 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:1432 blindness ISO RGD:1348759 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3650 lactic acidosis ISS RGD:735386 D RGD:13592920 20180518 MouseDO 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3652 Leigh disease ISO RGD:1348759 D RGD:6482231|PMID:20019223 20120419 RGD DNA:missense mutation: :m.14487T>C (p.M63V) (human) 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3652 Leigh disease ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10072046|PMID:10631164|PMID:10894222|PMID:11241853|PMID:11781695|PMID:12205655|PMID:12736867|PMID:12827453|PMID:14520668|PMID:14595656|PMID:1463007|PMID:14735585|PMID:15637703|PMID:15922297|PMID:15954041|PMID:16337195|PMID:1634041|PMID:16380132|PMID:18524835|PMID:18674747|PMID:19555656|PMID:20301353|PMID:21457906|PMID:21504270|PMID:21838605|PMID:24088041|PMID:25741868|PMID:26633545|PMID:29987491|PMID:30143805|PMID:32906214|PMID:35715829|PMID:5511487|PMID:7654063|PMID:8016139|PMID:8470982|PMID:8622678|PMID:8854108|PMID:9012411|PMID:9177303|PMID:9849804 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3687 MELAS syndrome ISO RGD:1348759 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:3687 MELAS syndrome ISO RGD:1348759 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:11781695 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:5389 oxyphilic adenoma ISO RGD:1348759 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Oxyphilic adenoma PMID:21555623 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:543 dystonia ISO RGD:1348759 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24088041|PMID:26633545 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1348759 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10072046|PMID:10631164|PMID:10894222|PMID:11133798|PMID:11781695|PMID:12112086|PMID:12205655|PMID:12736867|PMID:12827453|PMID:14520668|PMID:14595656|PMID:1463007|PMID:14735585|PMID:15954041|PMID:16337195|PMID:1634041|PMID:16380132|PMID:18674747|PMID:20301353|PMID:25741868|PMID:30143805|PMID:32906214|PMID:35715829|PMID:5511487|PMID:7654063|PMID:8016139|PMID:8470982|PMID:8622678|PMID:9012411|PMID:9849804 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1348759 D RGD:11554173 20211012 CTD CTD Direct Evidence: marker/mechanism PMID:15342361|PMID:24569607|PMID:31669237 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia PMID:10072046|PMID:10631164|PMID:10894222|PMID:11133798|PMID:12112086|PMID:12205655|PMID:12736867|PMID:12827453|PMID:14520668|PMID:14595656|PMID:1463007|PMID:14735585|PMID:15922297|PMID:15954041|PMID:16337195|PMID:1634041|PMID:16380132|PMID:18674747|PMID:20301353|PMID:25741868|PMID:29987491|PMID:30143805|PMID:32906214|PMID:35715829|PMID:5511487|PMID:7654063|PMID:8016139|PMID:8470982|PMID:8622678|PMID:8644732|PMID:8854108|PMID:9012411|PMID:9177303|PMID:9849804 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1348759 D RGD:8657119|PMID:23665487 20140603 RGD DNA:SNP, haplotypes: :m.14484T>C (human) 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1348759 D RGD:8657123|PMID:19732751 20140603 RGD DNA:missense mutation:cds:m.14502T>C (p.I58V) (human) 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1348759 D RGD:8657125|PMID:24398099 20140603 RGD DNA:missense mutations, haplotypes:cds:multiple 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:735386 D RGD:8657127|PMID:23129651 20140603 RGD DNA:mutation: :m.13997G>A (p.P25L) (mouse) 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1348759 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9002174 Disease Susceptibility ISO RGD:1348759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348759 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9003594 Mitochondrial Cytopathy ISO RGD:1348759 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Mitochondrial cytopathy PMID:28027978 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1348759 D RGD:6482231|PMID:20019223 20120419 RGD DNA:missense mutation: :m.14487T>C (p.M63V) (human) 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1348759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10072046 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:8657129|PMID:20130021 20140603 RGD mRNA:decreased expression:blood 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9007525 Leigh Syndrome Due To Mitochondrial Complex I Deficiency ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency PMID:10894222|PMID:12205655|PMID:14520668|PMID:14595656|PMID:14735585|PMID:16337195|PMID:16380132|PMID:20301353|PMID:25741868|PMID:30143805|PMID:32906214|PMID:35715829|PMID:7654063|PMID:8016139|PMID:8622678 620561 Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 gene DOID:9008391 Bilateral Striatal Necrosis with Dystonia ISO RGD:1348759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia PMID:12205655|PMID:14520668|PMID:14595656|PMID:16337195|PMID:32906214|PMID:35715829 620562 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 620562 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:25440489|PMID:27175695 20200420 RGD DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) 620562 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:25440500|PMID:19458352 20200421 RGD DNA:SNPs, haplotype: :rs6441286, rs574808(human) 620562 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis treatment ISO RGD:1351047 D RGD:25440498|PMID:23433321 20200421 RGD DNA:SNP: :rs62270414(human) 620562 Il12a interleukin 12A gene DOID:12894 Sjogren's syndrome ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 620562 Il12a interleukin 12A gene DOID:1883 hepatitis C disease_progression ISO RGD:1351047 D RGD:25440502|PMID:30243010 20200421 RGD associated with diabetes mellitus; 620562 Il12a interleukin 12A gene DOID:1883 hepatitis C susceptibility ISO RGD:1351047 D RGD:25440490|PMID:27819525 20200420 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) 620562 Il12a interleukin 12A gene DOID:2377 multiple sclerosis ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 620562 Il12a interleukin 12A gene DOID:2841 asthma ISO RGD:732140 D RGD:4373570|PMID:17548618 20110307 RGD 620562 Il12a interleukin 12A gene DOID:2841 asthma ISO RGD:732140 D RGD:4438438|PMID:17056578 20110307 RGD 620562 Il12a interleukin 12A gene DOID:3070 high grade glioma ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18176109 620562 Il12a interleukin 12A gene DOID:630 genetic disease ISO RGD:1351047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620562 Il12a interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:25440490|PMID:27819525 20200420 RGD associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human) 620562 Il12a interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:25440491|PMID:20521253 20200420 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) 620562 Il12a interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:25440501|PMID:26631030 20200421 RGD associated with hepatitis B; DNA:SNP, haplotype:3′UTR :rs568408(human) 620562 Il12a interleukin 12A gene DOID:9002170 Experimental Neoplasms ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17332360 620562 Il12a interleukin 12A gene DOID:9002395 Hypothermia ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 620562 Il12a interleukin 12A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732140 D RGD:724447|PMID:12471147 19990101 RGD 620562 Il12a interleukin 12A gene DOID:9004009 Reperfusion Injury ISO RGD:1351047 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 620562 Il12a interleukin 12A gene DOID:9007188 Liver Neoplasms ISO RGD:1351047 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:17326190 620562 Il12a interleukin 12A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1351047 D RGD:11097839|PMID:26062743 20200421 RGD mRNA:increased expression:liver 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:2044 drug-induced hepatitis ISO RGD:731582 D RGD:10054288|PMID:12201952 20150803 RGD protein:increased expression:liver (mouse) 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:9850154|PMID:17173873 20150331 RGD 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:630 genetic disease ISO RGD:731581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:684 hepatocellular carcinoma IDA D RGD:2317680|PMID:19000703 20100416 RGD 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:2317696|PMID:17026968 20100416 RGD protein:increased expression:retina 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9001916 Fetal Death ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16809448 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:731581 D RGD:10054291|PMID:18325907 20150803 RGD DNA:snp:promoter:g.-2820G>A (rs10980705) (human) 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9006257 Growth Disorders ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731581 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 620563 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731581 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 620565 Lpar3 lysophosphatidic acid receptor 3 gene DOID:630 genetic disease ISO RGD:1323219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620566 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:0080600 COVID-19 ISO RGD:733271 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620566 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:418 systemic scleroderma ISO RGD:733271 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29033951 620566 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:630 genetic disease ISO RGD:733271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620566 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:12910727|PMID:8831584 20170622 RGD protein:decreased expression:aganglionic colon: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:12910747|PMID:9247236 20170623 RGD protein:decreased expression:intestine smooth muscle" 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:11044 gastroschisis severity IEP D RGD:12910745|PMID:15486901 20170623 RGD protein:decreased expression:intestine: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:731382 D RGD:2292430|PMID:15502806 20080417 RGD urinary bladder small cell carcinoma 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:12336 male infertility IAGP D RGD:1600050|PMID:12932303 20070226 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:12449 aplastic anemia severity IMP D RGD:12910751|PMID:7694680 20170623 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:731382 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:28492532 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:731382 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10224103|PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12697809|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16226710|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:29098070|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28506695|PMID:28710566|PMID:29098070|PMID:33212994|PMID:34338390|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1909 melanoma disease_progression ISO RGD:731382 D RGD:12910725|PMID:9310959 20170622 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:1967 leiomyosarcoma ISO RGD:731382 D RGD:2292170|PMID:17367465 20080417 RGD Uterine 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2154 nephroblastoma disease_progression ISO RGD:731382 D RGD:12910726|PMID:19010635 20170622 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2226 myeloproliferative neoplasm ISO RGD:731382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:11208730|PMID:11505412|PMID:15837988|PMID:17259998|PMID:19175693|PMID:21689725|PMID:23582185|PMID:24847623|PMID:25157968|PMID:28492532 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2361 macrocytic anemia ISS RGD:731383 D RGD:13592920 20180518 MouseDO 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25176472|PMID:25741868|PMID:28492532|PMID:31911633|PMID:32091409 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2531 hematologic cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematological malignancies PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2913 acute pancreatitis IEP D RGD:12910752|PMID:23599644 20170623 RGD mRNA,protein:decreased expression:jejunum 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2998 testicular cancer ISO RGD:731382 D RGD:8554872 20200317 ClinVar ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis PMID:25741868|PMID:28492532 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:2999 granulosa cell tumor ISO RGD:731382 D RGD:2302173|PMID:18028988 20081125 RGD mRNA:decreased expression:ovary 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:731382 D RGD:2292426|PMID:16721362 20080417 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3082 interstitial lung disease ISO RGD:731382 D RGD:12910743|PMID:15887294 20170623 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:12910729|PMID:1370874 20170622 RGD DNA:missense, frameshift mutations:cds: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:1600045|PMID:1717985 20070226 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:7240710 20130221 OMIM 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive PMID:10554798|PMID:11074500|PMID:11174389|PMID:11380399|PMID:1370874|PMID:1376329|PMID:1384325|PMID:15194144|PMID:16081693|PMID:16199547|PMID:16307017|PMID:17065430|PMID:1717985|PMID:1720553|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22670867|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:30019023|PMID:31775759|PMID:338655|PMID:34008892|PMID:7529964|PMID:9450866|PMID:9699740 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3275 thymoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thymoma PMID:10680913|PMID:11276010|PMID:11505412|PMID:12960119|PMID:14977822|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:17699867|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18980976|PMID:19461405|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19996579|PMID:20736294|PMID:20970876|PMID:21159146|PMID:21325067|PMID:21642685|PMID:21690468|PMID:21969494|PMID:22261812|PMID:22357254|PMID:23375402|PMID:23598963|PMID:24755198|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7530509|PMID:9438854 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:349 systemic mastocytosis ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16597595 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:349 systemic mastocytosis ISO RGD:731382 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Systemic mast cell disease PMID:18559612 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:12910724|PMID:9519779 20170622 RGD associated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:1600046|PMID:9029028 20070226 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:7240710 20141015 OMIM 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis PMID:10554798|PMID:11380399|PMID:15790786|PMID:16081693|PMID:16307017|PMID:17065430|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:30019023|PMID:31775759|PMID:7529964|PMID:8589724 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3663 cutaneous mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous mastocytosis PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:12960119|PMID:15173254|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:18024392|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19812602|PMID:19865100|PMID:20736294|PMID:21159146|PMID:21689725|PMID:22357254|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11276010|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:18448188|PMID:18980976|PMID:19671763|PMID:19996579|PMID:21642685|PMID:21690468|PMID:22261812|PMID:22357254|PMID:23598963|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:7530509|PMID:9438854 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4226 endometrial stromal sarcoma ISO RGD:731382 D RGD:2292170|PMID:17367465 20080411 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4440 seminoma ISO RGD:731382 D RGD:2292181|PMID:10362788 20080411 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4441 dysgerminoma ISO RGD:731382 D RGD:2292181|PMID:10362788 20080411 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4441 dysgerminoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:10362788|PMID:11276010|PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18955458|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:2292414|PMID:15780567 20080417 RGD chromophobe RCC only 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:2292421|PMID:15073597 20080417 RGD papillary RCC only 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731382 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:5389 oxyphilic adenoma ISO RGD:731382 D RGD:2292414|PMID:15780567 20080417 RGD renal oncocytomas 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:5409 lung small cell carcinoma ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15499612 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:5557 testicular germ cell cancer ISO RGD:731382 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731382 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:731383 D RGD:12910746|PMID:12354381 20170623 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:6171 uterine carcinosarcoma ISO RGD:731382 D RGD:2292170|PMID:17367465 20080417 RGD Uterine Carcinosarcoma 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:8440 ileus treatment IEP D RGD:151893492|PMID:30852906 20220421 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:850 lung disease ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21471107 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:8923 skin melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:2302174|PMID:18006222 20081125 RGD DNA:mutations:exon (human) 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:2302175|PMID:17768701 20081125 RGD DNA:missense mutations: :multiple (human) 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9001581 Constipation IEP D RGD:152025536|PMID:33792838 20220504 RGD mRNA, protein:decreased expression:colon 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9002566 Gastric Reperfusion Injury IEP D RGD:12911222|PMID:20040059 20170710 RGD mRNA,protein:decreased expression:stomach: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731382 D RGD:2292422|PMID:15033665 20080417 RGD advanced serous ovarian carcinoma 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731383 D RGD:12910744|PMID:25972476 20170623 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:7240710 20130731 OMIM 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731382 D RGD:2292419|PMID:15044924 20080417 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9004283 Transplant Rejection IEP D RGD:12910749|PMID:9862859 20170623 RGD mRNA:increased expression:liver: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:731382 D RGD:12910730|PMID:10385646 20170622 RGD mRNA:increased expression:liver: 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:2302172|PMID:18445266 20081125 RGD DNA:mutation (rat) 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311225|PMID:17235568 20221020 RGD protein:increased expression:pancreas 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9006532 Hematologic Neoplasms ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar Annotator: match by term: Hematological neoplasm PMID:10362788|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11526490|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:17824795|PMID:18024392|PMID:18510589|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:20545949|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:22626674|PMID:23582185|PMID:23648119|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26619011|PMID:26822237|PMID:27777718|PMID:28492532|PMID:29098070|PMID:7479840|PMID:7513208|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9657776|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:731382 D RGD:1600047|PMID:9697690 20070226 RGD Gastrointestinal Stromal Tumors 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007058 Primitive Peripheral Neuroectodermal Tumors ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15618851 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28166811|PMID:28492532|PMID:29146883|PMID:31775759|PMID:7529964 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9007432 Latent Tuberculosis ISO RGD:731382 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human PMID:29602771|REF_RGD_ID:41404732 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:2292423|PMID:14669790 20080417 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:2292424|PMID:17848740 20080417 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731382 D RGD:12910741|PMID:21388062 20170623 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms severity ISO RGD:731382 D RGD:2292425|PMID:17867595 20080417 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:7240710 20130221 OMIM 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11380399|PMID:11493470|PMID:14645423|PMID:14695343|PMID:15685537|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:17699867|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20890793|PMID:21642685|PMID:21689725|PMID:22504184|PMID:22932406|PMID:23149070|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:28506695|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:16740725|PMID:20028860|PMID:27793025 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:151709005|PMID:21132270 20220419 RGD 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:7240710 20130221 OMIM 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:10224103|PMID:10362788|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1384325|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:1720553|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27577211|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:30019023|PMID:30280421|PMID:30374176|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:33212994|PMID:34338390|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:731382 D RGD:151709007|PMID:30983504 20220419 RGD DNA:SNP: :rs17084733 (human) 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:9254 mast-cell leukemia ISO RGD:731382 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Mast cell leukemia PMID:11380399|PMID:11493470|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7691885|PMID:8589724|PMID:9827716|PMID:9990072 620568 Kit KIT proto-oncogene receptor tyrosine kinase gene DOID:962 neurofibroma ISO RGD:731382 D RGD:12910728|PMID:7692836 20170622 RGD mRNA:increased expression:skin: 620569 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:4500 hypokalemia IEP D RGD:13838663|PMID:9729517 20190108 RGD 620569 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:630 genetic disease ISO RGD:734042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620569 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734042 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620569 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9006646 Metabolic Syndrome IEP D RGD:13838660|PMID:23320804 20190108 RGD 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0050690 brachyolmia ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25669657 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0080001 bone disease ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19344874 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:7240710 20151111 OMIM 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:11790802|PMID:16199547|PMID:17576681|PMID:19213025|PMID:19344874|PMID:25640679|PMID:25669657|PMID:25741868|PMID:25899461|PMID:28492532|PMID:29625025|PMID:30887145|PMID:33082559|PMID:35998423|PMID:9536098 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:7240710 20190315 OMIM 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 3 PMID:25741868|PMID:27068007|PMID:28492532|PMID:30887145|PMID:33082559 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:1059 intellectual disability ISO RGD:736405 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:13714 anodontia ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25669657 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:736405 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:35998423 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:2746 glycogen storage disease V ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:3070 high grade glioma ISO RGD:736405 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:4254 osteosclerosis ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:630 genetic disease ISO RGD:736405 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:736405 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease PMID:25741868|PMID:29625025 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9003358 Kyphosis ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11790802 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736405 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9006257 Growth Disorders ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 62057 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:988 mitral valve prolapse ISO RGD:736405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25899461 620570 Ifngr1 interferon gamma receptor 1 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1349807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 620570 Ifngr1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:10192386|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16690980|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:19880857|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:25216720|PMID:25592983|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:27356097|PMID:28492532|PMID:28902581|PMID:8960473|PMID:8960475|PMID:9142806|PMID:9389728|PMID:9497247|PMID:9806040 620570 Ifngr1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A susceptibility ISO RGD:1349807 D RGD:7240710 20230505 OMIM 620570 Ifngr1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B ISO RGD:1349807 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620570 Ifngr1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency PMID:10192386|PMID:11583830|PMID:12712974|PMID:15589309|PMID:16867158|PMID:18171304|PMID:19880337|PMID:20015550|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 620570 Ifngr1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B susceptibility ISO RGD:1349807 D RGD:7240710 20230505 OMIM 620570 Ifngr1 interferon gamma receptor 1 gene DOID:11476 osteoporosis ISS RGD:1551263 D RGD:13592920 20180518 MouseDO OMIM:166710 620570 Ifngr1 interferon gamma receptor 1 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1551263 D RGD:124715469|PMID:22496215 20210325 RGD 620570 Ifngr1 interferon gamma receptor 1 gene DOID:13141 uveitis ISO RGD:1349807 D RGD:14974251|PMID:29534057 20190923 RGD associated with Behcet's disease 620570 Ifngr1 interferon gamma receptor 1 gene DOID:2043 hepatitis B ISO RGD:1349807 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620570 Ifngr1 interferon gamma receptor 1 gene DOID:2043 hepatitis B ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 620570 Ifngr1 interferon gamma receptor 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 620570 Ifngr1 interferon gamma receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1349807 D RGD:6480271|PMID:20655098 20120320 RGD 620570 Ifngr1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1349807 D RGD:6480431|PMID:12851715 20120321 RGD DNA: SNP: Leu467Pro 620570 Ifngr1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1551263 D RGD:6480255|PMID:21737883 20120320 RGD 620570 Ifngr1 interferon gamma receptor 1 gene DOID:289 endometriosis ISO RGD:1349807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620570 Ifngr1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620570 Ifngr1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:4144122|PMID:19575238 20120320 RGD 620570 Ifngr1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:9389728 620570 Ifngr1 interferon gamma receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 620570 Ifngr1 interferon gamma receptor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:12712974|PMID:15589309|PMID:19880337|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:8960473|PMID:9806040 620570 Ifngr1 interferon gamma receptor 1 gene DOID:630 genetic disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620570 Ifngr1 interferon gamma receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349807 D RGD:4892610|PMID:20808962 20120320 RGD mRNA: increased expression 620570 Ifngr1 interferon gamma receptor 1 gene DOID:824 periodontitis ISO RGD:1349807 D RGD:6480271|PMID:20655098 20120320 RGD 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1551263 D RGD:124715468|PMID:25918247 20210325 RGD 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:6480268|PMID:21266457 20120320 RGD DNA: missense mutations: cds: I87T; V63G 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:6480429|PMID:15589309 20120321 RGD DNA: mutation 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1349807 D RGD:6480431|PMID:12851715 20120321 RGD DNA: SNP: Leu467Pro 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency | ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:10192386|PMID:11583830|PMID:12516030|PMID:16199547|PMID:18171304|PMID:18593809|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1349807 D RGD:11554173 20200819 CTD CTD Direct Evidence: marker/mechanism 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1349807 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:10192386|PMID:10480427|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16199547|PMID:16690980|PMID:17251453|PMID:17513528|PMID:17514500|PMID:17576681|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:24220318|PMID:25216720|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:26642243|PMID:27356097|PMID:28492532|PMID:28744922|PMID:28902581|PMID:29572183|PMID:8960473|PMID:9389728|PMID:9536098|PMID:9806040 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1349807 D RGD:1624283|PMID:8960473 20070507 RGD DNA:nonsense mutation 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349807 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9007356 Eczema ISO RGD:1551263 D RGD:6480259|PMID:21458658 20120320 RGD DNA: insertion: exon 5: neo cassette 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9007356 Eczema resistance ISO RGD:1349807 D RGD:6480259|PMID:21458658 20120320 RGD DNA: snps: rs7749390, rs10457655 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1349807 D RGD:6480431|PMID:12851715 20120321 RGD DNA: SNP: Leu467Pro 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349807 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 620570 Ifngr1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1349807 D RGD:7240710 20190502 OMIM 620571 Selenbp1 selenium binding protein 1 gene DOID:0080422 Dravet syndrome ISO RGD:733754 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 620571 Selenbp1 selenium binding protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620571 Selenbp1 selenium binding protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620571 Selenbp1 selenium binding protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620571 Selenbp1 selenium binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733754 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620571 Selenbp1 selenium binding protein 1 gene DOID:1686 glaucoma ISO RGD:733754 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 620571 Selenbp1 selenium binding protein 1 gene DOID:2468 psychotic disorder ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18163446 620571 Selenbp1 selenium binding protein 1 gene DOID:299 adenocarcinoma ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991897|PMID:15378696 620571 Selenbp1 selenium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16223876|PMID:18163446 620571 Selenbp1 selenium binding protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620571 Selenbp1 selenium binding protein 1 gene DOID:630 genetic disease ISO RGD:733754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620571 Selenbp1 selenium binding protein 1 gene DOID:655 inherited metabolic disorder ISO RGD:733754 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 620571 Selenbp1 selenium binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 620571 Selenbp1 selenium binding protein 1 gene DOID:9000977 Halitosis ISO RGD:733754 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 620571 Selenbp1 selenium binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16380993|PMID:18272210 620571 Selenbp1 selenium binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991897 620571 Selenbp1 selenium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 620571 Selenbp1 selenium binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18435490 620571 Selenbp1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:7240710 20211222 OMIM 620571 Selenbp1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:8554872 20190115 ClinVar ClinVar Annotator: match by term: Extraoral halitosis due to methanethiol oxidase deficiency PMID:25741868|PMID:29255262 620571 Selenbp1 selenium binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733754 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620572 Faim Fas apoptotic inhibitory molecule gene DOID:630 genetic disease ISO RGD:1605660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620573 Cyba cytochrome b-245 alpha chain gene DOID:0050589 inflammatory bowel disease ISO RGD:734174 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 620573 Cyba cytochrome b-245 alpha chain gene DOID:0050848 obstructive sleep apnea severity ISO RGD:734174 D RGD:4266589|PMID:20367952 20101116 RGD mRNA, protein:increased expression:sputum, macrophage, neutrophil 620573 Cyba cytochrome b-245 alpha chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:7240710 20130221 OMIM 620573 Cyba cytochrome b-245 alpha chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10440830|PMID:10759707|PMID:10910929|PMID:10914676|PMID:12073015|PMID:1415254|PMID:16199547|PMID:16937026|PMID:17576681|PMID:1763037|PMID:18422995|PMID:18546332|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22562447|PMID:22876374|PMID:22924696|PMID:23002911|PMID:23910690|PMID:25741868|PMID:26185101|PMID:26915675|PMID:26936803|PMID:27537055|PMID:27701760|PMID:27980538|PMID:28341171|PMID:28492532|PMID:28941186|PMID:29454792|PMID:29560547|PMID:30470980|PMID:30709874|PMID:30716179|PMID:31364312|PMID:31375816|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:34547651|PMID:3571224|PMID:4384563|PMID:8168815|PMID:9445163|PMID:9536098 620573 Cyba cytochrome b-245 alpha chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:28492532 620573 Cyba cytochrome b-245 alpha chain gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:734174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 620573 Cyba cytochrome b-245 alpha chain gene DOID:0111922 spermatogenic failure 31 ISO RGD:734174 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: CYBA DEFICIENCY PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 620573 Cyba cytochrome b-245 alpha chain gene DOID:1074 kidney failure ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 620573 Cyba cytochrome b-245 alpha chain gene DOID:10763 hypertension IDA D RGD:4775206|PMID:17109653 20101117 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:10763 hypertension IEP D RGD:2317853|PMID:20018820 20100428 RGD protein:increased expression:kidney cortex 620573 Cyba cytochrome b-245 alpha chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:17324946|PMID:20505675|PMID:32147540 620573 Cyba cytochrome b-245 alpha chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:1580276|PMID:12729892 19990101 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:10825 essential hypertension ISO RGD:734174 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 620573 Cyba cytochrome b-245 alpha chain gene DOID:114 heart disease ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 620573 Cyba cytochrome b-245 alpha chain gene DOID:13406 pulmonary sarcoidosis no_association ISO RGD:734174 D RGD:4780358|PMID:16608528 20101117 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:14780 KBG syndrome ISO RGD:734174 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 620573 Cyba cytochrome b-245 alpha chain gene DOID:1936 atherosclerosis ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 620573 Cyba cytochrome b-245 alpha chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:4311041|PMID:19459419 20101116 RGD DNA:polymorphism: :-930A>G (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:4772770|PMID:18716406 20101117 RGD DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:2957 pulmonary tuberculosis no_association ISO RGD:734174 D RGD:4780358|PMID:16608528 20101117 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:4293707|PMID:20080081 20101116 RGD DNA:polymorphisms: :-930A>G, 242C>T (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:4304108|PMID:19567155 20101116 RGD DNA:polymorphism: :p.H72Y (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:734174 D RGD:4779762|PMID:18422995 20101117 RGD DNA:mutations: :multiple (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:11040541|PMID:10759707 20160310 RGD DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2243141 620573 Cyba cytochrome b-245 alpha chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:1600791|PMID:1415254 20070327 RGD autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:734861|PMID:2243141 19990101 RGD DNA:mutations:multiple (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:10440830|PMID:10759707|PMID:10910929|PMID:1415254|PMID:16199547|PMID:17576681|PMID:1763037|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22876374|PMID:22924696|PMID:25741868|PMID:26185101|PMID:26936803|PMID:27537055|PMID:27701760|PMID:28341171|PMID:28492532|PMID:29454792|PMID:30709874|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:8168815|PMID:9445163|PMID:9536098 620573 Cyba cytochrome b-245 alpha chain gene DOID:3393 coronary artery disease ISO RGD:734174 D RGD:1331525|PMID:15118671 19990101 GAD 620573 Cyba cytochrome b-245 alpha chain gene DOID:3393 coronary artery disease ISO RGD:734174 D RGD:1578443|PMID:14709372 19990101 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:5082 liver cirrhosis ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620573 Cyba cytochrome b-245 alpha chain gene DOID:5844 myocardial infarction IEP D RGD:1599690|PMID:11243862 20160311 RGD mRNA:increase expression:ventricle myocardium: 620573 Cyba cytochrome b-245 alpha chain gene DOID:5844 myocardial infarction IEP D RGD:2317860|PMID:18762777 20100428 RGD mRNA:increased expression:myocardium 620573 Cyba cytochrome b-245 alpha chain gene DOID:630 genetic disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620573 Cyba cytochrome b-245 alpha chain gene DOID:6432 pulmonary hypertension IDA D RGD:4773907|PMID:18424632 20101117 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:6432 pulmonary hypertension ISO RGD:734175 D RGD:4762683|PMID:18952568 20101117 RGD associated with Anoxia;mRNA, protein:increased expression:lung 620573 Cyba cytochrome b-245 alpha chain gene DOID:783 end stage renal disease IEP D RGD:2306994|PMID:19420110 20100428 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:783 end stage renal disease ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 620573 Cyba cytochrome b-245 alpha chain gene DOID:8947 diabetic retinopathy IEP D RGD:2317854|PMID:19685553 20100428 RGD associated with Diabetes Mellitus, Experimental 620573 Cyba cytochrome b-245 alpha chain gene DOID:9000039 Spinal Cord Injuries IEP D RGD:1599510|PMID:16345062 20100428 RGD mRNA:increased expression:spinal cord 620573 Cyba cytochrome b-245 alpha chain gene DOID:9000528 Coronary Disease ISO RGD:734174 D RGD:1580275|PMID:10488959 19990101 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:9001371 Eosinophilia IAGP D RGD:11040542|PMID:19406829 20160310 RGD DNA:deletion:splice junction: 620573 Cyba cytochrome b-245 alpha chain gene DOID:9001371 Eosinophilia IAGP D RGD:5134976|PMID:20660993 20201210 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:9001371 Eosinophilia IAGP D RGD:5134988|PMID:21512270 20201210 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620573 Cyba cytochrome b-245 alpha chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:734174 D RGD:8695982|PMID:14747204 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human) 620573 Cyba cytochrome b-245 alpha chain gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:734174 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 620573 Cyba cytochrome b-245 alpha chain gene DOID:9004009 Reperfusion Injury IEP D RGD:1599683|PMID:15148062 20100428 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:9005369 Hepatomegaly ISO RGD:734174 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 620573 Cyba cytochrome b-245 alpha chain gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11040693|PMID:23905384 20160314 RGD mRNA:increased expression:pancreas: 620573 Cyba cytochrome b-245 alpha chain gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2317852|PMID:20226688 20100428 RGD mRNA, protein:increased expression:aorta 620573 Cyba cytochrome b-245 alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11812764|PMID:12967931 620573 Cyba cytochrome b-245 alpha chain gene DOID:9006646 Metabolic Syndrome IEP D RGD:2317864|PMID:16741160 20100428 RGD 620573 Cyba cytochrome b-245 alpha chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 620573 Cyba cytochrome b-245 alpha chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:734174 D RGD:11040545|PMID:19222940 20160310 RGD mRNA:increased expression:peripheral blood mononuclear cell: 620574 Cybb cytochrome b-245 beta chain gene DOID:0050073 invasive aspergillosis ISO RGD:733265 D RGD:10450528|PMID:24054721 20160311 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:0050855 renal fibrosis ISO RGD:1350492 D RGD:11040697|PMID:22568654 20160314 RGD associated with liver transplant;protein:increased expression:kidney: 620574 Cybb cytochrome b-245 beta chain gene DOID:0050855 renal fibrosis treatment IEP D RGD:11040697|PMID:22568654 20160314 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350492 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620574 Cybb cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:11040560|PMID:10068684 20160311 RGD DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human) 620574 Cybb cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:11040562|PMID:7694872 20160311 RGD DNA:deletion:cds: 620574 Cybb cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:7240710 20130221 OMIM 620574 Cybb cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant PMID:10068684|PMID:10089913|PMID:10627478|PMID:10828042|PMID:10914676|PMID:10980575|PMID:11112388|PMID:11162142|PMID:11413138|PMID:11435314|PMID:11462241|PMID:11566256|PMID:11700292|PMID:11997083|PMID:12094329|PMID:12139950|PMID:12589359|PMID:1347621|PMID:1438069|PMID:14697745|PMID:15082894|PMID:1520880|PMID:15338276|PMID:15454837|PMID:16199547|PMID:1710153|PMID:1719419|PMID:17576211|PMID:17576681|PMID:18322777|PMID:18509647|PMID:18546332|PMID:18708296|PMID:18762975|PMID:18773283|PMID:19410294|PMID:19483051|PMID:20228266|PMID:20540864|PMID:20724480|PMID:20729109|PMID:21190454|PMID:21604087|PMID:21659519|PMID:22125116|PMID:22540226|PMID:22562447|PMID:22876374|PMID:22924696|PMID:22924737|PMID:22929960|PMID:23193493|PMID:23859418|PMID:23910690|PMID:23956436|PMID:24276928|PMID:24943880|PMID:24999735|PMID:2523713|PMID:25252997|PMID:25525159|PMID:2556453|PMID:25666294|PMID:25741868|PMID:26185101|PMID:26453586|PMID:26936803|PMID:27701760|PMID:27853979|PMID:27980538|PMID:28168067|PMID:28251166|PMID:2838754|PMID:28492532|PMID:29018441|PMID:29560547|PMID:29702544|PMID:30237823|PMID:30470980|PMID:30506560|PMID:30633606|PMID:30716179|PMID:31456102|PMID:31813112|PMID:32040803|PMID:33629196|PMID:33717137|PMID:33963972|PMID:34680870|PMID:3600768|PMID:7907031|PMID:8070813|PMID:8101486|PMID:8182143|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:8961628|PMID:9454688|PMID:9536098|PMID:9585602|PMID:9667376|PMID:9774399|PMID:9794433|PMID:9856476 620574 Cybb cytochrome b-245 beta chain gene DOID:0070195 X-linked chronic granulomatous disease treatment ISO RGD:1350492 D RGD:11040567|PMID:12804147 20160311 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350492 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 620574 Cybb cytochrome b-245 beta chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:7240710 20130221 OMIM 620574 Cybb cytochrome b-245 beta chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency PMID:10089913|PMID:10914676|PMID:11435314|PMID:12139950|PMID:17293536|PMID:17576681|PMID:18546332|PMID:19483051|PMID:21278736|PMID:23193493|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:30470980|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:9536098|PMID:9585602 620574 Cybb cytochrome b-245 beta chain gene DOID:10763 hypertension IEP D RGD:1599685|PMID:12472782 20070212 RGD Protein:increased expression:brain 620574 Cybb cytochrome b-245 beta chain gene DOID:10763 hypertension ISO RGD:1350492 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:21593737|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 620574 Cybb cytochrome b-245 beta chain gene DOID:10825 essential hypertension ISO RGD:1350492 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 620574 Cybb cytochrome b-245 beta chain gene DOID:12849 autistic disorder ISO RGD:1350492 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620574 Cybb cytochrome b-245 beta chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:11040566|PMID:11122248 20160311 RGD DNA:mutations:promoter: 620574 Cybb cytochrome b-245 beta chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11045425|PMID:11122248|PMID:11498749 620574 Cybb cytochrome b-245 beta chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:1599664|PMID:8083361 20070209 RGD DNA:point mutations:promoter 620574 Cybb cytochrome b-245 beta chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:1347621|PMID:17293536|PMID:18546332|PMID:20729109|PMID:21190454|PMID:21278736|PMID:22924737|PMID:23859418|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:8634410|PMID:9585602 620574 Cybb cytochrome b-245 beta chain gene DOID:3454 brain infarction ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 620574 Cybb cytochrome b-245 beta chain gene DOID:446 primary hyperaldosteronism IEP D RGD:1599681|PMID:16373592 20070212 RGD Protein:increased expression:heart ventricle 620574 Cybb cytochrome b-245 beta chain gene DOID:557 kidney disease ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 620574 Cybb cytochrome b-245 beta chain gene DOID:576 proteinuria ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 620574 Cybb cytochrome b-245 beta chain gene DOID:5844 myocardial infarction IEP D RGD:1599690|PMID:11243862 20070212 RGD mRNA:increase expression:ventricle myocardium 620574 Cybb cytochrome b-245 beta chain gene DOID:6000 congestive heart failure ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 620574 Cybb cytochrome b-245 beta chain gene DOID:630 genetic disease ISO RGD:1350492 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1320378|PMID:20724480|PMID:20729109 620574 Cybb cytochrome b-245 beta chain gene DOID:6432 pulmonary hypertension ISO RGD:733265 D RGD:4762683|PMID:18952568 20101117 RGD associated with Anoxia 620574 Cybb cytochrome b-245 beta chain gene DOID:6432 pulmonary hypertension treatment IEP D RGD:4773907|PMID:18424632 20160314 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:7148 rheumatoid arthritis ISO RGD:1350492 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:24313545 620574 Cybb cytochrome b-245 beta chain gene DOID:783 end stage renal disease IEP D RGD:1599682|PMID:15550752 20070212 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:783 end stage renal disease ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 620574 Cybb cytochrome b-245 beta chain gene DOID:8354 complement component 3 deficiency ISO RGD:1350492 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Complement component 3 deficiency PMID:25741868 620574 Cybb cytochrome b-245 beta chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:733265 D RGD:11040629|PMID:20679217 20160314 RGD mRNA,protein:increased expression:microglia: 620574 Cybb cytochrome b-245 beta chain gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:11040582|PMID:12142572 20160311 RGD mRNA:increased expression:cerebral vessel: 620574 Cybb cytochrome b-245 beta chain gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:1599680|PMID:16671452 20070212 RGD Protein:increased expression:cerebral cortex 620574 Cybb cytochrome b-245 beta chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620574 Cybb cytochrome b-245 beta chain gene DOID:9002211 Hyperalgesia ISO RGD:733265 D RGD:11040629|PMID:20679217 20160314 RGD associated with Spinal Cord Injuries; 620574 Cybb cytochrome b-245 beta chain gene DOID:9002514 Neointima treatment IMP D RGD:11040762|PMID:20485380 20160315 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:9004009 Reperfusion Injury IEP D RGD:1599677|PMID:16766636 20070212 RGD Protein:increase expression:brain 620574 Cybb cytochrome b-245 beta chain gene DOID:9004009 Reperfusion Injury ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19193722 620574 Cybb cytochrome b-245 beta chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350492 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620574 Cybb cytochrome b-245 beta chain gene DOID:9005372 Inflammation ISO RGD:733265 D RGD:11040576|PMID:19234224 20160311 RGD 620574 Cybb cytochrome b-245 beta chain gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599683|PMID:15148062 20070212 RGD mRNA:increased expression:cerebral cortex;associated with reperfusion injury 620574 Cybb cytochrome b-245 beta chain gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599691|PMID:11157681 20070212 RGD mRNA:increased expression:aorta 620574 Cybb cytochrome b-245 beta chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19478208 620574 Cybb cytochrome b-245 beta chain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19207477 620574 Cybb cytochrome b-245 beta chain gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1350492 D RGD:40924640|PMID:27048452 20210115 RGD mRNA,protein:increased expression:mucosa of stomach (human) 620574 Cybb cytochrome b-245 beta chain gene DOID:9074 systemic lupus erythematosus ISS RGD:733265 D RGD:13592920 20190502 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 620574 Cybb cytochrome b-245 beta chain gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350492 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 620574 Cybb cytochrome b-245 beta chain gene DOID:9351 diabetes mellitus ISO RGD:1350492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 620574 Cybb cytochrome b-245 beta chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:0080074 neural tube defect ISO RGD:733293 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:733294 D RGD:13503334|PMID:11535810 20180111 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:11832 visual epilepsy IDA D RGD:2325750|PMID:11753565 20100608 RGD protein:increased activity:hippocampus 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:14330 Parkinson's disease ISO RGD:733293 D RGD:13503333|PMID:24835407 20180111 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:1793 pancreatic cancer ISO RGD:733293 D RGD:2325739|PMID:17224646 20100608 RGD mRNA:increased expression:pancreas 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:219 colon cancer treatment IEP D RGD:13703116|PMID:22369161 20180802 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:2316 brain ischemia IEP D RGD:2325742|PMID:17640469 20100608 RGD protein:increased expression:striatum 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:3490 Noonan syndrome ISS RGD:733294 D RGD:13592920 20180518 MouseDO 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13703113|PMID:24012531 20180802 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733293 D RGD:13703106|PMID:28982084 20180801 RGD mRNA:decreased expression:lung 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:5327 retinal detachment ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:630 genetic disease ISO RGD:733293 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:767 muscular atrophy IEP D RGD:2325745|PMID:17029665 20100608 RGD mRNA:decreased expression:skeletal muscle tissue 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053608|PMID:21748659 20180802 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9000998 Brain Injuries IEP D RGD:2325751|PMID:11567033 20100608 RGD protein:increased expression:cerebral cortex 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001390 Testis Reperfusion Injury treatment IEP D RGD:13703108|PMID:27748062 20180801 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001725 Retina Reperfusion Injury treatment IDA D RGD:5686888|PMID:22143029 20180802 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001946 Skin Abnormalities ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2292105|PMID:18205898 20100608 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:2325748|PMID:14973070 20100608 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9005465 Renal Ischemia treatment IMP D RGD:13703111|PMID:25330150 20180802 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:13703110|PMID:26362957 20180801 RGD 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 620575 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733293 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9753320|PMID:9753321 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060019 coronin-1A deficiency ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:736670 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:736670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:736670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:12849 autistic disorder ISO RGD:736670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:1882 atrial heart septal defect ISO RGD:736670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:5419 schizophrenia ISO RGD:736670 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:630 genetic disease ISO RGD:736670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736670 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 620576 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:736670 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 620577 Rap1b RAP1B, member of RAS oncogene family gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10041023|PMID:12196513 20150508 RGD protein:increased expression:renal glomerulus (rat) 620578 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:13938 amenorrhea ISO RGD:731323 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620578 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:2717 Bloom syndrome ISO RGD:731323 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620578 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:630 genetic disease ISO RGD:731323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620578 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:9256 colorectal cancer ISO RGD:731323 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:735286 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:25741868|PMID:28492532 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:7240710 20150610 OMIM 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Schuurs-Hoeijmakers syndrome PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:735286 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0110873 holoprosencephaly 9 ISO RGD:735286 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:10487 Hirschsprung's disease ISO RGD:735286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:10892 hypospadias ISO RGD:735286 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:303 substance-related disorder ISO RGD:735286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:3312 bipolar disorder ISO RGD:735286 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:5419 schizophrenia ISO RGD:735286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:630 genetic disease ISO RGD:735286 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735286 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9004108 Fused Kidney ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Horseshoe kidney PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:988 mitral valve prolapse ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 620579 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9970 obesity ISO RGD:735286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:10652 Alzheimer's disease severity ISO RGD:1347849 D RGD:2313919|PMID:17393059 20091027 RGD protein:increased expression:plasma 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:10763 hypertension ISO RGD:1347849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23154672 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:10941 intracranial aneurysm IEP D RGD:2313912|PMID:18312104 20091027 RGD protein:decreased expression:cerebral artery 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:13141 uveitis IMP D RGD:2313914|PMID:18032635 20091027 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:3627 aortic aneurysm IMP D RGD:2313928|PMID:16397885 20091027 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:6000 congestive heart failure severity ISO RGD:1347849 D RGD:2313827|PMID:11052858 20091016 RGD protein:increased expression:plasma 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:630 genetic disease ISO RGD:1347849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:784 chronic kidney disease ISO RGD:1347849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23154672 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:8947 diabetic retinopathy ISO RGD:1347849 D RGD:2313826|PMID:11522499 20091016 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9001044 Choroidal Neovascularization IMP D RGD:2313908|PMID:18436961 20091027 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14977883 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9002457 Experimental Arthritis IMP D RGD:2313925|PMID:16947396 20091027 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9003565 Paratuberculosis ISO RGD:1347849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9004009 Reperfusion Injury IMP D RGD:2313821|PMID:16339390 20091016 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313828|PMID:2218072 20091016 RGD protein:increased expression:kidney, serum 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2313819|PMID:19635478 20091016 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14977883 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62350 D RGD:2313824|PMID:12606817 20091016 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1347849 D RGD:2313919|PMID:17393059 20091027 RGD associated with Alzheimer Disease;protein:increased expression:brain 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9351 diabetes mellitus ISO RGD:1347849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23154672 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2313823|PMID:12663473 20091016 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347849 D RGD:2313820|PMID:19336232 20091016 RGD protein:increased expression:serum 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62350 D RGD:2313822|PMID:14656718 20091016 RGD 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347849 D RGD:2313825|PMID:12466139 20091016 RGD protein:increased expression:serum 62058 Aoc3 amine oxidase, copper containing 3 gene DOID:9970 obesity IMP D RGD:2313916|PMID:17977742 20091027 RGD 620580 Gpm6b glycoprotein m6b gene DOID:12849 autistic disorder ISO RGD:1349867 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620580 Gpm6b glycoprotein m6b gene DOID:630 genetic disease ISO RGD:1349867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620580 Gpm6b glycoprotein m6b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349867 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620583 Elovl5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:7240710 20170419 OMIM 620583 Elovl5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 PMID:25065913|PMID:25741868|PMID:28492532|PMID:31294938 620583 Elovl5 ELOVL fatty acid elongase 5 gene DOID:2661 myoepithelioma ISO RGD:1353049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 620583 Elovl5 ELOVL fatty acid elongase 5 gene DOID:630 genetic disease ISO RGD:1353049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620583 Elovl5 ELOVL fatty acid elongase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620583 Elovl5 ELOVL fatty acid elongase 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353049 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734014 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:734014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:1059 intellectual disability ISO RGD:734014 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:12849 autistic disorder ISO RGD:734014 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:630 genetic disease ISO RGD:734014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620584 Cdk16 cyclin-dependent kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734014 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620585 Elovl6 ELOVL fatty acid elongase 6 gene DOID:6000 congestive heart failure ISO RGD:1345221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 620585 Elovl6 ELOVL fatty acid elongase 6 gene DOID:630 genetic disease ISO RGD:1345221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620585 Elovl6 ELOVL fatty acid elongase 6 gene DOID:9970 obesity ISO RGD:1332205 D RGD:21403676|PMID:31988048 20200309 RGD mRNA,protein:increased expression:liver: 620586 Rnf103 ring finger protein 103 gene DOID:1596 depressive disorder IDA D RGD:634523|PMID:11071867 19990101 RGD 620586 Rnf103 ring finger protein 103 gene DOID:630 genetic disease ISO RGD:1349364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620586 Rnf103 ring finger protein 103 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349364 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620586 Rnf103 ring finger protein 103 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1349364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 620587 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:7240710 20130221 OMIM 620587 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:16385447|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29459493|PMID:30531807|PMID:9536098 620587 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1350319 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:16385447 620587 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620587 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1350319 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:22279524|PMID:25500575|PMID:28492532 620587 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1350319 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620588 Cd14 CD14 molecule gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347263 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620588 Cd14 CD14 molecule gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 620588 Cd14 CD14 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620588 Cd14 CD14 molecule gene DOID:0080642 Middle East respiratory syndrome ISO RGD:733890 D RGD:30309204|PMID:31838832 20200619 RGD mRNA:increased expression:lung 620588 Cd14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1347263 D RGD:7204130|PMID:20555320 20130214 RGD 620588 Cd14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:733890 D RGD:7204130|PMID:20555320 20121214 RGD 620588 Cd14 CD14 molecule gene DOID:10487 Hirschsprung's disease IEP D RGD:7193054|PMID:15117676 20121214 RGD protein:increased expression:intestine: 620588 Cd14 CD14 molecule gene DOID:10608 celiac disease ISO RGD:1347263 D RGD:2314152|PMID:18728522 20091103 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: 620588 Cd14 CD14 molecule gene DOID:10763 hypertension ISO RGD:1347263 D RGD:7204129|PMID:22072187 20121214 RGD associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) 620588 Cd14 CD14 molecule gene DOID:11335 sarcoidosis ISO RGD:1347263 D RGD:4144780|PMID:20430603 20101013 RGD DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:serum 620588 Cd14 CD14 molecule gene DOID:11335 sarcoidosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:20430603|REF_RGD_ID:4144780 620588 Cd14 CD14 molecule gene DOID:1205 allergic disease resistance ISO RGD:1347263 D RGD:4144798|PMID:19222419 20101014 RGD DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:13189 gout ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 620588 Cd14 CD14 molecule gene DOID:13250 diarrhea ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21596674 620588 Cd14 CD14 molecule gene DOID:13580 cholestasis IEP D RGD:7183752|PMID:22511970 20121213 RGD 620588 Cd14 CD14 molecule gene DOID:13603 obstructive jaundice IEP D RGD:9685190|PMID:25093541 20141223 RGD mRNA:increased expression:ileum, liver, lung, spleen 620588 Cd14 CD14 molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:1347263 D RGD:7184431|PMID:21172039 20121213 RGD mRNA, protein:increased expression:liver, plasma: 620588 Cd14 CD14 molecule gene DOID:1485 cystic fibrosis ISO RGD:1347263 D RGD:4144794|PMID:20302606 20101014 RGD protein:increased expression:Macrophages, Alveolar 620588 Cd14 CD14 molecule gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1347263 D RGD:4144796|PMID:19466271 20101014 RGD DNA:polymorphism:promoter:c. -159 C>T 620588 Cd14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17607003 620588 Cd14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:4144228|PMID:19096003 20101013 RGD DNA:SNPs: : 620588 Cd14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:4144813|PMID:16387800 20101015 RGD protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:2841 asthma no_association ISO RGD:1347263 D RGD:4144815|PMID:15741437 20101015 RGD DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:4144814|PMID:15940135 20101015 RGD DNA:polymorphism:promoter:c. -260C>T (human) 620588 Cd14 CD14 molecule gene DOID:2841 asthma susceptibility ISO RGD:1347263 D RGD:4144208|PMID:18312481 20101013 RGD DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 620588 Cd14 CD14 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1347263 D RGD:4144205|PMID:18008256 20101013 RGD DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum 620588 Cd14 CD14 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18008256|REF_RGD_ID:4144205 620588 Cd14 CD14 molecule gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347263 D RGD:7204499|PMID:12566518 20121221 RGD DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:3393 coronary artery disease no_association ISO RGD:1347263 D RGD:2314154|PMID:18157711 20091103 RGD DNA:SNP:promoter 620588 Cd14 CD14 molecule gene DOID:3407 carotid artery disease ISO RGD:1347263 D RGD:2314156|PMID:16873708 20091103 RGD DNA:SNP:promotor 620588 Cd14 CD14 molecule gene DOID:3407 carotid artery disease susceptibility ISO RGD:1347263 D RGD:7204441|PMID:15640605 20121218 RGD associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:4483 rhinitis resistance ISO RGD:1347263 D RGD:4144810|PMID:16950285 20101015 RGD DNA:polymorphism:promoter:c. -159c>T (human) 620588 Cd14 CD14 molecule gene DOID:4483 rhinitis susceptibility ISO RGD:1347263 D RGD:4144795|PMID:20109306 20101014 RGD DNA:polymorphism:promoter:c. -159c>T (human) 620588 Cd14 CD14 molecule gene DOID:4989 pancreatitis ISO RGD:733890 D RGD:4144143|PMID:19201771 20101013 RGD 620588 Cd14 CD14 molecule gene DOID:5082 liver cirrhosis ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 620588 Cd14 CD14 molecule gene DOID:5199 ureteral obstruction ISO RGD:733890 D RGD:7204444|PMID:10966493 20121218 RGD mRNA,protein:increased expression:kidney 620588 Cd14 CD14 molecule gene DOID:552 pneumonia ISO RGD:1347263 D RGD:4144794|PMID:20302606 20101014 RGD protein:increased expression:multiple 620588 Cd14 CD14 molecule gene DOID:5844 myocardial infarction ISO RGD:1347263 D RGD:1580252|PMID:10195920 19990101 RGD 620588 Cd14 CD14 molecule gene DOID:5844 myocardial infarction ISO RGD:1347263 D RGD:1580255|PMID:14587643 19990101 RGD 620588 Cd14 CD14 molecule gene DOID:5844 myocardial infarction no_association ISO RGD:1347263 D RGD:2314155|PMID:17436151 20091103 RGD associated with Coronary Artery Disease;DNA:SNP:promoter 620588 Cd14 CD14 molecule gene DOID:630 genetic disease ISO RGD:1347263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620588 Cd14 CD14 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620588 Cd14 CD14 molecule gene DOID:824 periodontitis IEP D RGD:7191232|PMID:17565820 20121214 RGD protein:increased expression:monocyte, neutrophil: 620588 Cd14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:4144143|PMID:19201771 20101013 RGD lung injury associated with pancreatitis 620588 Cd14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:4144782|PMID:18235097 20101013 RGD lung injury associated with Kidney Failure, Acute; mRNA:increased expression:lung 620588 Cd14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:4144789|PMID:15731076 20101014 RGD acute lung injury 620588 Cd14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1347263 D RGD:4144091|PMID:19824106 20121213 RGD protein:increased expression:small intestine 620588 Cd14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis disease_progression IDA D RGD:4144091|PMID:19824106 20121213 RGD 620588 Cd14 CD14 molecule gene DOID:874 bacterial pneumonia ISO RGD:733890 D RGD:4144197|PMID:16210672 20101012 RGD 620588 Cd14 CD14 molecule gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1347263 D RGD:7204130|PMID:20555320 20121214 RGD protein:altered localization:kidney,urine 620588 Cd14 CD14 molecule gene DOID:9000528 Coronary Disease ISO RGD:1347263 D RGD:2314175|PMID:10831941 20091104 RGD protein:increased expression:monocyte 620588 Cd14 CD14 molecule gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1347263 D RGD:4144784|PMID:17196641 20101013 RGD associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human) 620588 Cd14 CD14 molecule gene DOID:9000998 Brain Injuries ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 620588 Cd14 CD14 molecule gene DOID:9001488 Human Influenza ISO RGD:733890 D RGD:4144809|PMID:17825924 20101015 RGD 620588 Cd14 CD14 molecule gene DOID:9001981 Weight Loss ISO RGD:1347263 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28411859 620588 Cd14 CD14 molecule gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733890 D RGD:4144788|PMID:17185649 20101014 RGD 620588 Cd14 CD14 molecule gene DOID:9002159 Liver Reperfusion Injury IDA D RGD:7183676|PMID:22564590 20121213 RGD 620588 Cd14 CD14 molecule gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:7185660|PMID:19534684 20121213 RGD mRNA:increased expression:lung, intestine: 620588 Cd14 CD14 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347263 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620588 Cd14 CD14 molecule gene DOID:9004590 Acute Liver Failure IEP D RGD:4144156|PMID:18070011 20101013 RGD mRNA:increased expression:liver 620588 Cd14 CD14 molecule gene DOID:9005930 Endotoxemia IEP D RGD:724637|PMID:12046090 20101215 RGD protein:increased expression:liver, endothelial cell of sinusoid 620588 Cd14 CD14 molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733890 D RGD:7204444|PMID:10966493 20121218 RGD mRNA,protein:increased expression:kidney 620588 Cd14 CD14 molecule gene DOID:9006647 Experimental Autoimmune Neuritis severity IEP D RGD:2312712|PMID:19162137 20121213 RGD 620588 Cd14 CD14 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1347263 D RGD:4144210|PMID:17471431 20150729 RGD DNA:polymorphism:promoter:c.-550C>T (human) 620588 Cd14 CD14 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620588 Cd14 CD14 molecule gene DOID:9007356 Eczema ISO RGD:1347263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 620588 Cd14 CD14 molecule gene DOID:9007730 Burns IEP D RGD:2313390|PMID:12435950 20141223 RGD 620588 Cd14 CD14 molecule gene DOID:9007730 Burns IEP D RGD:7204443|PMID:11829837 20121218 RGD mRNA:increased expression:multiple organs: 620588 Cd14 CD14 molecule gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:9685194|PMID:22493902 20141223 RGD protein:increased expression:heart, kidney, liver, lung 620588 Cd14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347263 D RGD:2314175|PMID:10831941 20091104 RGD protein:increased expression:monocyte 620588 Cd14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:733890 D RGD:2314173|PMID:14614560 20091104 RGD 620589 Cst11 cystatin 11 gene DOID:630 genetic disease ISO RGD:735574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:732889 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732889 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:630 genetic disease ISO RGD:732889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732889 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 62059 Tesk1 testis associated actin remodelling kinase 1 gene DOID:9870 galactosemia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 620590 Rap2a RAP2A, member of RAS oncogene family gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348992 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 620590 Rap2a RAP2A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1348992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620590 Rap2a RAP2A, member of RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1348992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 620590 Rap2a RAP2A, member of RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348992 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 620591 Rap2b RAP2B, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:736861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620592 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:630 genetic disease ISO RGD:1604567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620592 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620592 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:9005372 Inflammation treatment ISO RGD:1604567 D RGD:14400306|PMID:25632019 20190508 RGD 620592 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:9007278 Anaphylaxis treatment ISO RGD:1604567 D RGD:14400306|PMID:25632019 20190508 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1345616 D RGD:6892918|PMID:21844117 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:0060189 ileitis ISO RGD:733966 D RGD:6892917|PMID:21945903 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:0060496 respiratory allergy ISO RGD:1345616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20022477 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1345616 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:4145619|PMID:20022477 20101110 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:10247 pleurisy ISO RGD:733966 D RGD:4145643|PMID:17158890 20101111 RGD associated with Mycobacterium Infections 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:11204 allergic conjunctivitis ISO RGD:733966 D RGD:6893389|PMID:18658092 20120824 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:11382 corneal neovascularization ISO RGD:733966 D RGD:6892921|PMID:20610836 20120815 RGD mRNA:increased expression:cornea 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:4145634|PMID:11529927 20101111 RGD protein:increased expression:nasal cavity epithelium 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:6893409|PMID:12716450 20120828 RGD protein:increased expression:blood, T cell 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:13922 eosinophilic esophagitis ISO RGD:733966 D RGD:6893390|PMID:1316818 20120824 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1345616 D RGD:4145632|PMID:19017998 20101111 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:1555 urticaria ISO RGD:1345616 D RGD:6893392|PMID:15721839 20120824 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:1824 status epilepticus ISO RGD:1345616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19490431 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2043 hepatitis B ISO RGD:1345616 D RGD:6893388|PMID:19185001 20120824 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1345616 D RGD:6893445|PMID:20103664 20120828 RGD DNA:silent mutation:cds: (rs4987053) (human) 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2377 multiple sclerosis ISO RGD:1345616 D RGD:6892919|PMID:21427490 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma IMP D RGD:4145646|PMID:16978084 20101111 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:4145632|PMID:19017998 20101111 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:4145638|PMID:20220260 20101111 RGD DNA:SNP:exon:51T>C (human) 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:1601020|PMID:17145927 20101111 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:4145618|PMID:20134116 20101110 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:4145623|PMID:19657453 20101110 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:4145633|PMID:18699933 20101111 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733966 D RGD:30309221|PMID:15356152 20200619 RGD mRNA:altered expression:lung (mouse) 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:3042 allergic contact dermatitis ISO RGD:733966 D RGD:6892916|PMID:22075493 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345616 D RGD:4145632|PMID:19017998 20101111 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:6893391|PMID:16449815 20120824 RGD protein:increased expression:skin 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1345616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16314464 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733966 D RGD:4145395|PMID:16314464 20101111 RGD associated with Lung Injury 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis IEP D RGD:4145454|PMID:20696593 20101111 RGD mRNA:increased expression:nose 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:4145111|PMID:17135764 20101111 RGD DNA:SNP:exon:51T>C (human) 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:4145645|PMID:17156343 20101111 RGD protein:increased expression:blood, T cell 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:4617 periapical granuloma ISO RGD:1345616 D RGD:6893426|PMID:11683586 20120828 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10202824 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733966 D RGD:4145622|PMID:19762220 20101110 RGD mRNA:increased expression:lung 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:5844 myocardial infarction IDA D RGD:4890013|PMID:18954648 20120829 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1345616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345616 D RGD:4145632|PMID:19017998 20101111 RGD protein:increased expression:synovial fluid, neutrophil 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345616 D RGD:4145620|PMID:19842835 20101110 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1345616 D RGD:6892920|PMID:21077277 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733966 D RGD:6893387|PMID:19787232 20120824 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:733966 D RGD:6893454|PMID:19525930 20120829 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9001371 Eosinophilia ISO RGD:1345616 D RGD:4145642|PMID:17983872 20101111 RGD associated with Asthma 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733966 D RGD:6893394|PMID:15034073 20120824 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1345616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9004001 Facial Nerve Injuries ISO RGD:733966 D RGD:6892922|PMID:19922414 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733966 D RGD:6893427|PMID:21621198 20120828 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1345616 D RGD:6893428|PMID:21180278 20120828 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9146 visceral leishmaniasis ISO RGD:1345616 D RGD:6893393|PMID:15379987 20120824 RGD protein:increased expression:blood, T cell 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9471 meningitis ISO RGD:733966 D RGD:6892923|PMID:19887061 20120815 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:733966 D RGD:4145617|PMID:20732990 20101110 RGD 620593 Ccr3 C-C motif chemokine receptor 3 gene DOID:9970 obesity ISO RGD:1345616 D RGD:6483834|PMID:18492752 20120829 RGD mRNA:increased expression:adipose tissue 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:10608 celiac disease ISO RGD:1347259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:1793 pancreatic cancer ISO RGD:1347259 D RGD:2317610|PMID:12761880 20100413 RGD protein:increased expression:pancreas 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:2316 brain ischemia ISO RGD:1347259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:2841 asthma IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:3070 high grade glioma ISO RGD:1347259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17522861 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1347259 D RGD:38455996|PMID:28086903 20200807 RGD 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:3770 pulmonary fibrosis IEP D RGD:2306304|PMID:15993846 20090416 RGD mRNA:increased expression:lung 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1347259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:10054497|PMID:19942450 20150810 RGD protein:increased expression:synovial membrane: 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:10054499|PMID:25430645 20150810 RGD mRNA:increased expression:synovium: 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:8398 osteoarthritis ISO RGD:1347259 D RGD:10054497|PMID:19942450 20150810 RGD protein:increased expression:synovial membrane: 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:8541 Sezary's disease ISO RGD:1347259 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 620594 Ccr4 C-C motif chemokine receptor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:1347259 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 620595 Zfp111 zinc finger protein 111 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1343710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 620595 Zfp111 zinc finger protein 111 gene DOID:5419 schizophrenia ISO RGD:1343710 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620595 Zfp111 zinc finger protein 111 gene DOID:630 genetic disease ISO RGD:1343710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733487 D RGD:8551819|PMID:18798077 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733487 D RGD:8551837|PMID:16476970 20140414 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:14401732|PMID:11543653 20190516 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733487 D RGD:4891446|PMID:19906920 20110201 RGD Respiratory Syndrome, Severe Acute; mRNA:increased expression:lung (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0080599 Coronavirus infectious disease ISS RGD:733487 D RGD:13592920 20200730 MouseDO 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0081267 graft-versus-host disease ISO RGD:733487 D RGD:4892067|PMID:19571824 20110201 RGD mRNA:increased expression:lung, liver, intestine (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0110759 type 1 diabetes mellitus 22 ISO RGD:1351344 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 22 PMID:25741868 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:0110759 type 1 diabetes mellitus 22 susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10140 dry eye syndrome ISO RGD:1351344 D RGD:8549761|PMID:16682594 20140404 RGD mRNA, protein:increased expression:conjunctiva, epithelial cell 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10322 berylliosis disease_progression ISO RGD:1351344 D RGD:4892065|PMID:20075058 20110201 RGD DNA:polymorphisms:5' utr:multiple (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:106 pleural tuberculosis ISO RGD:1351344 D RGD:4145106|PMID:19159432 20110207 RGD protein:increased expression:pleural fluid, natural killer cell (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10652 Alzheimer's disease IMP D RGD:4890446|PMID:15979806 20101220 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10652 Alzheimer's disease ISO RGD:1351344 D RGD:4890447|PMID:9665462 20101220 RGD protein:increased expression:brain, microglia (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10763 hypertension IEP D RGD:4890416|PMID:20044442 20101217 RGD mRNA:increased expression:aorta (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10763 hypertension ISO RGD:1351344 D RGD:1581182|PMID:12680626 19990101 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:10952 nephritis ISO RGD:1351344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055553 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:11263 chlamydia ISO RGD:733487 D RGD:8549760|PMID:16118671 20140404 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:11335 sarcoidosis ISO RGD:1351344 D RGD:4892086|PMID:18311470 20110203 RGD Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:11382 corneal neovascularization ISO RGD:733487 D RGD:734790|PMID:12556387 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1210 optic neuritis ISO RGD:1351344 D RGD:8551840|PMID:11966770 20140414 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1351344 D RGD:4892114|PMID:12858455 20110207 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:12574 posterior uveitis ISO RGD:1351344 D RGD:8551817|PMID:17417600 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:12662 paracoccidioidomycosis ISO RGD:733487 D RGD:4892087|PMID:18292527 20110203 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1351344 D RGD:4892079|PMID:18439876 20110203 RGD protein:increased expression:blood, monocyte (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1351344 D RGD:4892113|PMID:12964123 20110207 RGD DNA:snps:5' utr:g.-2459A>G, g.-2554G>T (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:12894 Sjogren's syndrome ISO RGD:1351344 D RGD:8551796|PMID:12412204 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1351344 D RGD:8551818|PMID:23773920 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1351344 D RGD:8549757|PMID:16159632 20140404 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13141 uveitis IEP D RGD:2306302|PMID:19104678 20090518 RGD mRNA, protein:increased expression:conjunctiva, ciliary body 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease ISO RGD:1351344 D RGD:4892106|PMID:15501397 20110204 RGD protein:increased expression:blood, T cell (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease ISO RGD:1351344 D RGD:8551814|PMID:17067435 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13241 Behcet's disease no_association ISO RGD:1351344 D RGD:8551827|PMID:15009175 20140414 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:733487 D RGD:4892091|PMID:16988274 20110204 RGD protein:increased expression:lung, T-helper cell (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1351344 D RGD:8551811|PMID:17672867 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1351344 D RGD:8551815|PMID:15962231 20140411 RGD DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13378 Kawasaki disease treatment ISO RGD:1351344 D RGD:8551812|PMID:20628649 20140411 RGD DNA:polymorphisms, haplotype:multiple 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1351344 D RGD:4892066|PMID:19679608 20110201 RGD DNA:polymorphisms:5' utr:multiple (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1351344 D RGD:4892099|PMID:11790661 20110204 RGD protein:altered expression:lung, lymphocyte, macrophage (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1407 anterior uveitis IEP D RGD:4890448|PMID:15790900 20101220 RGD mRNA:increased expression:iris, ciliary body (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1555 urticaria ISO RGD:1351344 D RGD:8551831|PMID:23727176 20140414 RGD DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1612 breast cancer ISO RGD:1351344 D RGD:8551816|PMID:24301790 20140411 RGD mRNA:increased expression:breast 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1612 breast cancer disease_progression ISO RGD:1351344 D RGD:8551810|PMID:14597737 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1686 glaucoma ISO RGD:1351344 D RGD:8549757|PMID:16159632 20140404 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1793 pancreatic cancer ISO RGD:733487 D RGD:2317567|PMID:19155524 20100409 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1824 status epilepticus IEP D RGD:8552226|PMID:22248156 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C ISO RGD:1351344 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: HCV, RESISTANCE TO PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C no_association ISO RGD:1351344 D RGD:14401731|PMID:14673528 20190516 RGD DNA:deletion:cds: 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1351344 D RGD:14401735|PMID:27304910 20190520 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1936 atherosclerosis treatment ISO RGD:733487 D RGD:8549763|PMID:16763157 20140404 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:1962 fallopian tube disease ISO RGD:1351344 D RGD:8549760|PMID:16118671 20140404 RGD associated with Chlamydia Infections;DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1351344 D RGD:14401727|PMID:17063508 20190516 RGD DNA:polymorphism:promoter:59029A>G,59353C>T 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1351344 D RGD:14401574|PMID:29239247 20190513 RGD DNA:SNP: : rs1799987(human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1351344 D RGD:14401575|PMID:27892677 20190513 RGD DNA:polymorphism: :DNA:deletion:Cds: 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2316 brain ischemia IEP D RGD:632396|PMID:9670989 19990101 RGD mRNA:increased expression:brain (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2349 arteriosclerosis ISO RGD:733487 D RGD:4890431|PMID:17138939 20101217 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2366 West Nile fever ISO RGD:1351344 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: West Nile virus, susceptibility to PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2366 West Nile fever susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2377 multiple sclerosis ISO RGD:1351344 D RGD:1358460|PMID:12451219 19990101 RGD DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2377 multiple sclerosis ISO RGD:1351344 D RGD:8551829|PMID:12111306 20140414 RGD protein:increased expression:blood, cerebrospinal fluid 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2377 multiple sclerosis ISO RGD:1351344 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:10520641|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9768627 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2518 orchitis severity IEP D RGD:6767571|PMID:22351899 20140414 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:1351344 D RGD:4145638|PMID:20220260 20110207 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:1351344 D RGD:4892108|PMID:15256090 20110204 RGD protein:decreased expression:blood, lymphocyte (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:733487 D RGD:4892088|PMID:18094012 20110203 RGD mRNA:increased expression:lung (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2841 asthma ISO RGD:733487 D RGD:4892093|PMID:16474097 20110204 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2841 asthma no_association ISO RGD:1351344 D RGD:8551842|PMID:23454776 20140414 RGD DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351344 D RGD:4892094|PMID:16379602 20110204 RGD protein:decreased expression:blood, T cell (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3021 acute kidney failure ISO RGD:1351344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26055553 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3042 allergic contact dermatitis IEP D RGD:2325935|PMID:16977379 20101217 RGD mRNA:increased expression:skin, lymph node (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3082 interstitial lung disease ISO RGD:1351344 D RGD:4892085|PMID:18383361 20110203 RGD associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351344 D RGD:4892070|PMID:19229703 20110201 RGD protein:increased expression:blood (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3121 gallbladder cancer onset ISO RGD:1351344 D RGD:2317570|PMID:18405329 20100412 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3310 atopic dermatitis ISO RGD:1351344 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3310 atopic dermatitis ISO RGD:1351344 D RGD:6893391|PMID:16449815 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3393 coronary artery disease IEP D RGD:4890438|PMID:17449418 20101217 RGD mRNA:increased expression:heart (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3482 plague resistance IAGP D RGD:4890425|PMID:18703167 20101217 RGD DNA:polymorphism:cds:p.H184R (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3526 cerebral infarction ISO RGD:733487 D RGD:8552262|PMID:23602964 20140417 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1351344 D RGD:4892101|PMID:15802346 20110204 RGD protein:decreased expression:lung, lymphocyte (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:3770 pulmonary fibrosis ISO RGD:733487 D RGD:4145622|PMID:19762220 20110201 RGD mRNA:increased expression:lung (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:4001 ovarian carcinoma ISO RGD:1351344 D RGD:4892092|PMID:11948121 20110204 RGD protein:increased expression:peritoneal fluid, leukocyte (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:4166 syphilis ISO RGD:1351344 D RGD:8551830|PMID:18008231 20140414 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351344 D RGD:4892094|PMID:16379602 20110204 RGD protein:decreased expression:blood, T cell (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:10520641|PMID:10559343|PMID:10615909|PMID:10803840|PMID:11081537|PMID:11369664|PMID:11403804|PMID:11403814|PMID:11517319|PMID:11781692|PMID:12610055|PMID:12815099|PMID:12874407|PMID:15744032|PMID:15863470|PMID:16216086|PMID:16248677|PMID:16418398|PMID:19017985|PMID:19073967|PMID:28492532|PMID:33116287|PMID:8639485|PMID:8751444|PMID:8756719|PMID:9055842|PMID:9132277|PMID:9140404|PMID:9207783|PMID:9399903|PMID:9433423|PMID:9466996|PMID:9511755|PMID:9585595|PMID:9600249|PMID:9742978|PMID:9768627 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1351344 D RGD:7240710 20230517 OMIM 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:552 pneumonia ISO RGD:733487 D RGD:4892103|PMID:15546955 20110204 RGD Idiopathic Pneumonia Syndrome; mRNA:increased expression:lung (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1351344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1351344 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to PMID:12610055|PMID:12815099|PMID:9742978 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1351344 D RGD:1626284|PMID:16775617 20070730 RGD DNA:polymorphisms: :multiple (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1351344 D RGD:1626283|PMID:17565662 20070730 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1351344 D RGD:1626283|PMID:17565662 20070730 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:7148 rheumatoid arthritis resistance ISO RGD:1351344 D RGD:1626290|PMID:16541097 20070730 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:783 end stage renal disease IEP D RGD:4889989|PMID:19535570 20101213 RGD mRNA:increased expression:kidney cortex (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:8893 psoriasis ISO RGD:1351344 D RGD:8551838|PMID:23954573 20140414 RGD protein:decreased expression:T cell 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:8947 diabetic retinopathy ISO RGD:733487 D RGD:8551828|PMID:22677420 20140414 RGD associated with Diabetes Mellitus, Experimental 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1351344 D RGD:8551816|PMID:24301790 20140411 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000528 Coronary Disease resistance ISO RGD:1351344 D RGD:1581176|PMID:16055130 19990101 RGD DNA:polymorphisms:multiple (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000918 Disease Progression ISO RGD:1351344 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351344 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000972 Fever IMP D RGD:2307192|PMID:15066130 20090520 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000972 Fever ISO RGD:733487 D RGD:8552232|PMID:23999490 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9000998 Brain Injuries IEP D RGD:8552265|PMID:24344922 20140417 RGD mRNA:increased expression:hippocampus 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza ISO RGD:733487 D RGD:4892119|PMID:19039768 20110207 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza ISO RGD:733487 D RGD:4892122|PMID:18617426 20110208 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9001488 Human Influenza severity ISO RGD:1351344 D RGD:4892063|PMID:20875295 20110201 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733487 D RGD:14401743|PMID:19603542 20190520 RGD mRNA,protein:increased expression:liver 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733487 D RGD:14401743|PMID:19603542 20190520 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002056 Arterial Injury IEP D RGD:8552233|PMID:22292067 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351344 D RGD:8549756|PMID:17428349 20140404 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351344 D RGD:2307107|PMID:12610055 20090518 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351344 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia IEP D RGD:4890034|PMID:18076762 20101214 RGD mRNA:increased expression:dorsal root ganglion (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia IMP D RGD:8551795|PMID:24589480 20140411 RGD associated with Spinal Cord Injuries 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:733487 D RGD:8551809|PMID:23147416 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002211 Hyperalgesia ISO RGD:733487 D RGD:8551820|PMID:22033364 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002457 Experimental Arthritis IEP D RGD:1582346|PMID:14674010 20101210 RGD mRNA:increased expression:ankle (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:5687744|PMID:22289897 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002467 Mycoplasma Infections ISO RGD:1351344 D RGD:4892129|PMID:17445875 20110208 RGD DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4890436|PMID:17484785 20101217 RGD mRNA:increased expression:spinal cord, macrophage, microglia (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9003036 Oral Lichen Planus ISO RGD:1351344 D RGD:8551821|PMID:23490419 20140411 RGD protein:increased expression:blood, T cell 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351344 D RGD:4145109|PMID:17982926 20110208 RGD mRNA:increased expression:nasal mucosa (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:4890442|PMID:16516309 20101220 RGD mRNA:increased expression:cerebral hemisphere (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733487 D RGD:8551839|PMID:23391218 20140414 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1351344 D RGD:14401729|PMID:12055576 20190516 RGD DNA:deletion:cds: 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1351344 D RGD:14401737|PMID:12873822 20190520 RGD DNA:deletion:cds: 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9004283 Transplant Rejection IEP D RGD:8552228|PMID:23498802 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9004283 Transplant Rejection treatment IEP D RGD:8552231|PMID:23446583 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9004545 Birth Injuries IEP D RGD:4890426|PMID:18554634 20101217 RGD mRNA:increased expression:multiple organs (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9005175 Ulcer ISO RGD:1351344 D RGD:8551830|PMID:18008231 20140414 RGD associated with Herpes Genitalis 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351344 D RGD:8551810|PMID:14597737 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351344 D RGD:8551813|PMID:22637726 20140411 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9005372 Inflammation IEP D RGD:4144893|PMID:16320322 20101220 RGD associated with Arthritis, Experimental; protein:increased expression:synovial tissue, macrophage (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11533943|PMID:21575160 20160913 RGD protein:increased expression:retina 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:733487 D RGD:14401740|PMID:16175603 20190520 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9006944 Alcoholic Fatty Liver disease_progression ISO RGD:733487 D RGD:14401742|PMID:27859576 20190520 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9007090 Experimental Seizures treatment IMP D RGD:4889880|PMID:20940264 20101209 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:733487 D RGD:14401733|PMID:24770590 20190516 RGD acetaminophen 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351344 D RGD:4892017|PMID:15786508 20110204 RGD protein:decreased expression:blood, monocyte (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:8552227|PMID:23456481 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9008225 Respirovirus Infections ISO RGD:733487 D RGD:4892127|PMID:17641009 20110208 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351344 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9008551 Flaviviridae Infections ISO RGD:1351344 D RGD:14401734|PMID:12824783 20190520 RGD associated with hepatitis G virus infection; protein:decreased expression: T lymphocyte:hepatitis G virus infection 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9008691 Liver Injury IMP D RGD:8552264|PMID:24205332 20140417 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9065 leishmaniasis ISO RGD:1351344 D RGD:8551841|PMID:17457607 20140414 RGD associated with HIV Infections;protein:increased expression:blood, T cell 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9065 leishmaniasis disease_progression ISO RGD:733487 D RGD:8551832|PMID:10553079 20140414 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351344 D RGD:6893428|PMID:21180278 20140414 RGD mRNA:increased expression:blood, mononuclear cell 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1351344 D RGD:8549764|PMID:23632983 20140404 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1351344 D RGD:8549765|PMID:17214851 20140404 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:733487 D RGD:14401738|PMID:24617012 20190520 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351344 D RGD:2307064|PMID:17966842 20090515 RGD protein:increased expression:monocyte 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:8552229|PMID:23063706 20140416 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:1351344 D RGD:4892104|PMID:15526056 20110204 RGD protein:increased expression:lung, lymphocyte (human) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:733487 D RGD:4892090|PMID:17883726 20110203 RGD 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9675 pulmonary emphysema ISO RGD:733487 D RGD:4892098|PMID:16284650 20110204 RGD mRNA, protein:increased expression:lung (mouse) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:4890459|PMID:15240727 20101221 RGD mRNA:increased expression:splenocyte (rat) 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351344 D RGD:2317571|PMID:12145160 20100412 RGD protein:decreased expression:blood, mononuclear cell 620596 Ccr5 C-C motif chemokine receptor 5 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1351344 D RGD:8551818|PMID:23773920 20140411 RGD DNA:frameshift mutation: :p.S185_T195del (rs333) (human) 620597 Plaur plasminogen activator, urokinase receptor gene DOID:0050127 sinusitis ISO RGD:735638 D RGD:6483796|PMID:21711960 20120601 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:735638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 620597 Plaur plasminogen activator, urokinase receptor gene DOID:10591 pre-eclampsia ISO RGD:735638 D RGD:6484119|PMID:21722073 20120608 RGD protein:increased expression:plasma 620597 Plaur plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:733132 D RGD:6483813|PMID:19461880 20120604 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:735638 D RGD:6483813|PMID:19461880 20120604 RGD mRNA:increased expression:skin 620597 Plaur plasminogen activator, urokinase receptor gene DOID:12849 autistic disorder ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19360663|PMID:21328570 620597 Plaur plasminogen activator, urokinase receptor gene DOID:1287 cardiovascular system disease ISO RGD:735638 D RGD:6483791|PMID:22119508 20120531 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:14115 toxic shock syndrome ISO RGD:733132 D RGD:6484122|PMID:20693875 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 620597 Plaur plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:1549414|PMID:14595671 19990101 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:1824 status epilepticus IEP D RGD:6483810|PMID:19527776 20120601 RGD mRNA:increased expression:hippocampus 620597 Plaur plasminogen activator, urokinase receptor gene DOID:2043 hepatitis B severity ISO RGD:735638 D RGD:6483828|PMID:18691743 20120604 RGD protein:increased expression:plasma 620597 Plaur plasminogen activator, urokinase receptor gene DOID:2957 pulmonary tuberculosis severity ISO RGD:735638 D RGD:6483832|PMID:18359089 20120604 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:305 carcinoma ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 620597 Plaur plasminogen activator, urokinase receptor gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:6484146|PMID:17651644 20120612 RGD protein:increased expression:bronchus 620597 Plaur plasminogen activator, urokinase receptor gene DOID:3526 cerebral infarction ISO RGD:733132 D RGD:6483804|PMID:20138161 20120601 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:5052 melioidosis ISO RGD:733132|RGD:735638 D RGD:6484129|PMID:20142364 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735638 D RGD:6484116|PMID:22098627 20120608 RGD protein:increased expression:serum 620597 Plaur plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735638 D RGD:6484120|PMID:21384094 20120608 RGD protein:increased expression:plasma 620597 Plaur plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:735638 D RGD:6484128|PMID:20229356 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:5419 schizophrenia ISO RGD:735638 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620597 Plaur plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction IEP D RGD:6484133|PMID:20952728 20120608 RGD mRNA, protein:increased expression:myocardium 620597 Plaur plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction ISO RGD:735638 D RGD:1580897|PMID:12393744 19990101 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:630 genetic disease ISO RGD:735638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620597 Plaur plasminogen activator, urokinase receptor gene DOID:649 prion disease ISO RGD:733132 D RGD:6483816|PMID:19459212 20120604 RGD mRNA:increased expression:hippocampus 620597 Plaur plasminogen activator, urokinase receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620597 Plaur plasminogen activator, urokinase receptor gene DOID:7148 rheumatoid arthritis ISO RGD:735638 D RGD:6484117|PMID:22011479 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:783 end stage renal disease ISO RGD:735638 D RGD:6483806|PMID:19926968 20120601 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:8283 peritonitis ISO RGD:733132 D RGD:6484122|PMID:20693875 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735638 D RGD:6483787|PMID:1304722 20120531 RGD protein:increased expression:plasma 620597 Plaur plasminogen activator, urokinase receptor gene DOID:8778 Crohn's disease ISO RGD:735638 D RGD:6483800|PMID:21114432 20120601 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:733132 D RGD:6483797|PMID:21573723 20120601 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome disease_progression ISO RGD:735638 D RGD:6484114|PMID:18197443 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9000310 Lung Injury ISO RGD:733132 D RGD:6483820|PMID:19435793 20120604 RGD associated with Hyperoxia 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733132 D RGD:6483788|PMID:22577342 20120531 RGD associated with Ovarian Neoplasms 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15659795 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735638 D RGD:6484116|PMID:22098627 20120608 RGD protein:increased expression:serum 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9001472 Nasal Polyps ISO RGD:735638 D RGD:6483796|PMID:21711960 20120601 RGD associated with Sinusitis 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9004009 Reperfusion Injury ISO RGD:733132 D RGD:6483829|PMID:18606671 20120604 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9004484 Sepsis ISO RGD:735638 D RGD:6483789|PMID:22550400 20120531 RGD protein:increased expression:plasma 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness IDA D RGD:729319|PMID:12198772 19990101 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9005036 Bacteremia severity ISO RGD:735638 D RGD:6483799|PMID:21332843 20120601 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9005372 Inflammation ISO RGD:735638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:735638 D RGD:6483792|PMID:22050462 20120601 RGD protein:increased expression:plasma 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9471 meningitis disease_progression ISO RGD:735638 D RGD:6484118|PMID:21971819 20120608 RGD 620597 Plaur plasminogen activator, urokinase receptor gene DOID:9970 obesity ISO RGD:735638 D RGD:6484121|PMID:21372607 20120608 RGD 620598 Nox1 NADPH oxidase 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:732308 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:28492532|PMID:30709874 620598 Nox1 NADPH oxidase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732308 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620598 Nox1 NADPH oxidase 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 620598 Nox1 NADPH oxidase 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 620598 Nox1 NADPH oxidase 1 gene DOID:12849 autistic disorder ISO RGD:732308 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620598 Nox1 NADPH oxidase 1 gene DOID:6000 congestive heart failure ISO RGD:732308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 620598 Nox1 NADPH oxidase 1 gene DOID:630 genetic disease ISO RGD:732308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620598 Nox1 NADPH oxidase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:732308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20832062 620598 Nox1 NADPH oxidase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 620598 Nox1 NADPH oxidase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:732308 D RGD:1580973|PMID:16380495 19990101 RGD protein:increased expression, increased activity:peripheral blood mononuclear cell (human) 620598 Nox1 NADPH oxidase 1 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 620599 Ifit1 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:0080600 COVID-19 ISO RGD:1344579 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620599 Ifit1 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:14497 Wolman disease ISO RGD:1344579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 620599 Ifit1 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1344579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620599 Ifit1 interferon-induced protein with tetratricopeptide repeats 1 gene DOID:9002189 High Myopia ISO RGD:1344579 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736466 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:7240710 20190315 OMIM 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 PMID:12724313|PMID:18818698|PMID:21240259|PMID:24033266|PMID:25679214|PMID:25741868|PMID:26273451|PMID:27056667|PMID:28302723|PMID:28492532|PMID:28584052|PMID:29769320|PMID:31627256|PMID:9083067 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:12849 autistic disorder ISO RGD:736466 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:1712 aortic valve stenosis ISO RGD:736466 D RGD:9590202|PMID:22128088 20141119 RGD mRNA:increased expression:heart left ventricle (human) 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:6000 congestive heart failure IEP D RGD:9590202|PMID:22128088 20141119 RGD protein:increased expression:heart left ventricle (rat) 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:630 genetic disease ISO RGD:736466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12724313|PMID:21240259|PMID:25741868|PMID:28492532|PMID:29769320|PMID:9083067 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9003936 Cardiomegaly IEP D RGD:9590202|PMID:22128088 20141119 RGD protein:increased expression:heart left ventricle (rat) 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:9590198|PMID:15561949 20141119 RGD 62060 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9008939 Breast Neoplasms severity ISO RGD:62352 D RGD:9590192|PMID:24214978 20141119 RGD 620600 Nox4 NADPH oxidase 4 gene DOID:0080547 non-alcoholic steatohepatitis susceptibility IEP D RGD:21076282|PMID:20606728 20200313 RGD mRNA:increased expression:liver (rat) 620600 Nox4 NADPH oxidase 4 gene DOID:1059 intellectual disability ISO RGD:731542 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620600 Nox4 NADPH oxidase 4 gene DOID:1074 kidney failure ISO RGD:731542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 620600 Nox4 NADPH oxidase 4 gene DOID:10763 hypertension IEP D RGD:2324669|PMID:18418428 20100510 RGD protein:increased expression:aorta, vascular associated smooth muscle cell 620600 Nox4 NADPH oxidase 4 gene DOID:10763 hypertension IMP D RGD:11085830|PMID:26644237 20190103 RGD 620600 Nox4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:731542 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:27847271|PMID:32147540 620600 Nox4 NADPH oxidase 4 gene DOID:2316 brain ischemia ISO RGD:731543 D RGD:1580980|PMID:15802177 19990101 RGD mRNA, protein:increased expression:cerebral cortex (human) 620600 Nox4 NADPH oxidase 4 gene DOID:6000 congestive heart failure ISO RGD:731542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 620600 Nox4 NADPH oxidase 4 gene DOID:630 genetic disease ISO RGD:731542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620600 Nox4 NADPH oxidase 4 gene DOID:6432 pulmonary hypertension ISO RGD:731543 D RGD:4762683|PMID:18952568 20101117 RGD associated with Anoxia;mRNA, protein:increased expression:lung 620600 Nox4 NADPH oxidase 4 gene DOID:783 end stage renal disease ISO RGD:731542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 620600 Nox4 NADPH oxidase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620600 Nox4 NADPH oxidase 4 gene DOID:9001665 Aneurysm IEP D RGD:2324659|PMID:19620512 20100507 RGD 620600 Nox4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2324670|PMID:17511984 20100510 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex 620600 Nox4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies IMP D RGD:2324673|PMID:16135519 20100510 RGD associated with Diabetes Mellitus, Experimental 620600 Nox4 NADPH oxidase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 620600 Nox4 NADPH oxidase 4 gene DOID:9004009 Reperfusion Injury IEP D RGD:2324666|PMID:18438942 20100507 RGD mRNA:increased expression:cerebral cortex 620600 Nox4 NADPH oxidase 4 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:13703040|PMID:23850346 20180726 RGD associated with hypertension 620600 Nox4 NADPH oxidase 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2324658|PMID:19686728 20100507 RGD protein:increased expression:aorta 620600 Nox4 NADPH oxidase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620601 Ackr3 atypical chemokine receptor 3 gene DOID:1059 intellectual disability ISO RGD:1343702 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620601 Ackr3 atypical chemokine receptor 3 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1343702 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34624384 620601 Ackr3 atypical chemokine receptor 3 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1343702 D RGD:152025548|PMID:16494043 20220506 RGD protein:increased expression:larynx (human) 620601 Ackr3 atypical chemokine receptor 3 gene DOID:305 carcinoma ISO RGD:1343702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 620601 Ackr3 atypical chemokine receptor 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343702 D RGD:155804290|PMID:29218250 20230116 RGD mRNA:increased expression:kidney: 620601 Ackr3 atypical chemokine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343702 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 620601 Ackr3 atypical chemokine receptor 3 gene DOID:557 kidney disease ISO RGD:1343702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22880115 620601 Ackr3 atypical chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1343702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620601 Ackr3 atypical chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1343702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620601 Ackr3 atypical chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 620601 Ackr3 atypical chemokine receptor 3 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343702 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 620601 Ackr3 atypical chemokine receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620601 Ackr3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:7240710 20210414 OMIM 620601 Ackr3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: Oculomotor-abducens synkinesis PMID:31211835 620601 Ackr3 atypical chemokine receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 620603 Slc16a3 solute carrier family 16 member 3 gene DOID:630 genetic disease ISO RGD:731750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620603 Slc16a3 solute carrier family 16 member 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731750 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:27224918 620603 Slc16a3 solute carrier family 16 member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:731750 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:22313602 620604 Zp1 zona pellucida glycoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620604 Zp1 zona pellucida glycoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1347809 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620604 Zp1 zona pellucida glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1347809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620604 Zp1 zona pellucida glycoprotein 1 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1347809 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868 620604 Zp1 zona pellucida glycoprotein 1 gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1347809 D RGD:7240710 20140911 OMIM 620604 Zp1 zona pellucida glycoprotein 1 gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1347809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: Oocyte maturation defect 1 PMID:24670168|PMID:25741868|PMID:30810869 620605 Zp2 zona pellucida glycoprotein 2 gene DOID:630 genetic disease ISO RGD:735363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620605 Zp2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte Maturation Defect 6 ISO RGD:735363 D RGD:7240710 20190315 OMIM 620605 Zp2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte Maturation Defect 6 ISO RGD:735363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 6 PMID:25741868|PMID:28971300|PMID:29895852|PMID:30810869|PMID:35211729 620606 Zp3 zona pellucida glycoprotein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352592 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620606 Zp3 zona pellucida glycoprotein 3 gene DOID:630 genetic disease ISO RGD:1352592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620606 Zp3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:7240710 20190315 OMIM 620606 Zp3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868|PMID:28886344|PMID:30810869 620606 Zp3 zona pellucida glycoprotein 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1352592 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:0080600 COVID-19 ISO RGD:732301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:2717 Bloom syndrome ISO RGD:732301 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:5419 schizophrenia ISO RGD:732301 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:630 genetic disease ISO RGD:732301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:9004621 Mitochondrial Complex IV Deficiency, Nuclear Type 20 ISO RGD:732301 D RGD:7240710 20201111 OMIM 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:9004621 Mitochondrial Complex IV Deficiency, Nuclear Type 20 ISO RGD:732301 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 PMID:28247525 620607 Cox5a cytochrome c oxidase subunit 5A gene DOID:9256 colorectal cancer ISO RGD:732301 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620608 Cox5b cytochrome c oxidase subunit 5B gene DOID:10763 hypertension IEP D RGD:2301377|PMID:16132109 20081009 RGD protein:decreased expression:heart left ventricle 620608 Cox5b cytochrome c oxidase subunit 5B gene DOID:630 genetic disease ISO RGD:734145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620608 Cox5b cytochrome c oxidase subunit 5B gene DOID:9003936 Cardiomegaly IEP D RGD:2301377|PMID:16132109 20081009 RGD associated with Hypertension 620608 Cox5b cytochrome c oxidase subunit 5B gene DOID:9007102 Myocardial Ischemia ISO RGD:734145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620609 Hoxa5 homeo box A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734224 D RGD:8554872 20171226 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620609 Hoxa5 homeo box A5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734224 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 620609 Hoxa5 homeo box A5 gene DOID:630 genetic disease ISO RGD:734224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620609 Hoxa5 homeo box A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734224 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 620609 Hoxa5 homeo box A5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734224 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 62061 Insl6 insulin-like 6 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 62061 Insl6 insulin-like 6 gene DOID:0070004 myeloid neoplasm ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:11512 Budd-Chiari syndrome ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:737125 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 62061 Insl6 insulin-like 6 gene DOID:4971 myelofibrosis ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:737125 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:25741868 62061 Insl6 insulin-like 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737125 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 62061 Insl6 insulin-like 6 gene DOID:630 genetic disease ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62061 Insl6 insulin-like 6 gene DOID:8432 polycythemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:8552 chronic myeloid leukemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:8997 polycythemia vera ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737125 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 62061 Insl6 insulin-like 6 gene DOID:9002720 Splenomegaly ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:9004276 Thrombocythemia 3 ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 62061 Insl6 insulin-like 6 gene DOID:9006101 Primary Ovarian Failure ISO RGD:737125 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868 62061 Insl6 insulin-like 6 gene DOID:9119 acute myeloid leukemia ISO RGD:737125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:15781101|PMID:15793561|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 620610 Kmo kynurenine 3-monooxygenase gene DOID:0111261 fumarase deficiency ISO RGD:737300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 620610 Kmo kynurenine 3-monooxygenase gene DOID:1540 parathyroid carcinoma ISO RGD:737300 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620610 Kmo kynurenine 3-monooxygenase gene DOID:1596 depressive disorder IEP D RGD:13703051|PMID:29217494 20180731 RGD protein:decreased activity:plasma 620610 Kmo kynurenine 3-monooxygenase gene DOID:3042 allergic contact dermatitis ISO RGD:737300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 620610 Kmo kynurenine 3-monooxygenase gene DOID:5419 schizophrenia ISO RGD:737300 D RGD:13513905|PMID:21036897 20180308 RGD protein:decreased activity:brain: 620610 Kmo kynurenine 3-monooxygenase gene DOID:5419 schizophrenia treatment IMP D RGD:13703052|PMID:29030243 20180731 RGD 620610 Kmo kynurenine 3-monooxygenase gene DOID:630 genetic disease ISO RGD:737300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620610 Kmo kynurenine 3-monooxygenase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13703043|PMID:26524415 20180730 RGD mRNA,protein:increased expression:spinal cord: 620610 Kmo kynurenine 3-monooxygenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620610 Kmo kynurenine 3-monooxygenase gene DOID:9002211 Hyperalgesia treatment IMP D RGD:13703043|PMID:26524415 20180730 RGD 620610 Kmo kynurenine 3-monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737300 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620610 Kmo kynurenine 3-monooxygenase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:737300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 620610 Kmo kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression IMP D RGD:13703053|PMID:28398044 20180731 RGD 620610 Kmo kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:734253 D RGD:11342439|PMID:26752518 20180730 RGD 620610 Kmo kynurenine 3-monooxygenase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737300 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620611 Slc2a8 solute carrier family 2 member 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620611 Slc2a8 solute carrier family 2 member 8 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:730862 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620611 Slc2a8 solute carrier family 2 member 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620611 Slc2a8 solute carrier family 2 member 8 gene DOID:630 genetic disease ISO RGD:730862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620612 Pth2r parathyroid hormone 2 receptor gene DOID:0050888 syndromic intellectual disability ISO RGD:730965 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 620612 Pth2r parathyroid hormone 2 receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 620612 Pth2r parathyroid hormone 2 receptor gene DOID:630 genetic disease ISO RGD:730965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620612 Pth2r parathyroid hormone 2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730965 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620613 Safb scaffold attachment factor B gene DOID:630 genetic disease ISO RGD:733074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620614 Il17b interleukin 17B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620614 Il17b interleukin 17B gene DOID:630 genetic disease ISO RGD:1352071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620614 Il17b interleukin 17B gene DOID:9003318 Keratoconus 1 ISO RGD:1352071 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Keratoconus 1 620614 Il17b interleukin 17B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352071 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620614 Il17b interleukin 17B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620615 Pou6f1 POU class 6 homeobox 1 gene DOID:630 genetic disease ISO RGD:731653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620616 Cox6c cytochrome c oxidase subunit 6C gene DOID:0111590 Cohen syndrome ISO RGD:736850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 620616 Cox6c cytochrome c oxidase subunit 6C gene DOID:630 genetic disease ISO RGD:736850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620617 Hmga2 high mobility group AT-hook 2 gene DOID:127 leiomyoma ISO RGD:1348013 D RGD:1601568|PMID:8954805 20070424 RGD uterine leiomyoma, OMIM:150699 620617 Hmga2 high mobility group AT-hook 2 gene DOID:13223 uterine fibroid ISO RGD:1348013 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma 620617 Hmga2 high mobility group AT-hook 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1348013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18413806 620617 Hmga2 high mobility group AT-hook 2 gene DOID:2394 ovarian cancer ISO RGD:1348013 D RGD:5147841|PMID:18452175 20110825 RGD 620617 Hmga2 high mobility group AT-hook 2 gene DOID:3315 lipoma ISO RGD:1348013 D RGD:1601567|PMID:7606786 20070424 RGD 620617 Hmga2 high mobility group AT-hook 2 gene DOID:630 genetic disease ISO RGD:1348013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9003996 Birth Weight ISO RGD:1348013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348013 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28830677 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1348013 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9007253 Hamartoma ISO RGD:1348013 D RGD:1601568|PMID:8954805 20070424 RGD pulmonary chondroid hamartoma 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:7240710 20200701 OMIM 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 5 PMID:25741868|PMID:25809938|PMID:28492532|PMID:28796236|PMID:29453418 620617 Hmga2 high mobility group AT-hook 2 gene DOID:9970 obesity ISO RGD:1552855 D RGD:1601569|PMID:10742101 20070424 RGD 620618 Cux1 cut-like homeobox 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1319831 D RGD:152985542|PMID:23255599 20220607 RGD protein:decreased activity:stomach (human) 620618 Cux1 cut-like homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1319831 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620618 Cux1 cut-like homeobox 1 gene DOID:1798 pancreatic endocrine carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220728 RGD protein:increased expression:pancreas (human) PMID:32707646|REF_RGD_ID:153297777 620618 Cux1 cut-like homeobox 1 gene DOID:3892 insulinoma disease_progression ISO RGD:733203 D RGD:152985543|PMID:25248790 20220607 RGD mRNA:increased expression:pancreas (mouse) 620618 Cux1 cut-like homeobox 1 gene DOID:3892 insulinoma exacerbates ISO RGD:1319831 D RGD:152985543|PMID:25248790 20220607 RGD protein:increased expression:pancreas (human) 620618 Cux1 cut-like homeobox 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319831 D RGD:152985544|PMID:28405678 20220607 RGD mRNA:increased expression:lung (human) 620618 Cux1 cut-like homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319831 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620618 Cux1 cut-like homeobox 1 gene DOID:630 genetic disease ISO RGD:1319831 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620618 Cux1 cut-like homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319831 D RGD:152985541|PMID:30561038 20220607 RGD mRNA:increased expression:liver (human) 620618 Cux1 cut-like homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319831 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620618 Cux1 cut-like homeobox 1 gene DOID:9007702 Carcinogenesis ISO RGD:1319831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24316979 620618 Cux1 cut-like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:7240710 20190710 OMIM 620618 Cux1 cut-like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868|PMID:30014507 620618 Cux1 cut-like homeobox 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:33014778|REF_RGD_ID:152985540 620619 Rfc1 replication factor C subunit 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353491 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 620619 Rfc1 replication factor C subunit 1 gene DOID:2366 West Nile fever susceptibility ISO RGD:1353491 D RGD:41410434|PMID:21881118 20210210 RGD DNA:silent mutation:CDS:p.P847P (rs2066786) (human) 620619 Rfc1 replication factor C subunit 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353491 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 620619 Rfc1 replication factor C subunit 1 gene DOID:3347 osteosarcoma ISO RGD:1353491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 620619 Rfc1 replication factor C subunit 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353491 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620619 Rfc1 replication factor C subunit 1 gene DOID:630 genetic disease ISO RGD:1353491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620619 Rfc1 replication factor C subunit 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 620619 Rfc1 replication factor C subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18926688 620619 Rfc1 replication factor C subunit 1 gene DOID:9006473 Bilateral Vestibulopathy ISO RGD:1353491 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 620619 Rfc1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:41404727|PMID:30926972 20210208 RGD DNA:repeat:intron: 620619 Rfc1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:41404728|PMID:32040566 20210208 RGD DNA:repeat:intron: 620619 Rfc1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:7240710 20190515 OMIM 620619 Rfc1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:25741868 62062 Mybbp1a MYB binding protein 1a gene DOID:12849 autistic disorder ISO RGD:69133 D RGD:8554872 20150811 ClinVar ClinVar Annotator: match by term: Autism 62062 Mybbp1a MYB binding protein 1a gene DOID:630 genetic disease ISO RGD:69133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62062 Mybbp1a MYB binding protein 1a gene DOID:9002304 Prostatic Neoplasms ISO RGD:69133 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 620620 Cd48 Cd48 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 620620 Cd48 Cd48 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1352782 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620620 Cd48 Cd48 molecule gene DOID:630 genetic disease ISO RGD:1352782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620620 Cd48 Cd48 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352782 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620620 Cd48 Cd48 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352782 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620621 Bcl2a1 BCL2-related protein A1 gene DOID:0080600 COVID-19 ISO RGD:733985 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 620621 Bcl2a1 BCL2-related protein A1 gene DOID:1205 allergic disease ISO RGD:1621639 D RGD:734640|PMID:11733571 19990101 RGD 620621 Bcl2a1 BCL2-related protein A1 gene DOID:2717 Bloom syndrome ISO RGD:733985 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620621 Bcl2a1 BCL2-related protein A1 gene DOID:630 genetic disease ISO RGD:733985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620621 Bcl2a1 BCL2-related protein A1 gene DOID:7148 rheumatoid arthritis ISO RGD:733985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620621 Bcl2a1 BCL2-related protein A1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 620621 Bcl2a1 BCL2-related protein A1 gene DOID:9008939 Breast Neoplasms ISO RGD:733985 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17659439 620621 Bcl2a1 BCL2-related protein A1 gene DOID:9256 colorectal cancer ISO RGD:733985 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0050581 brachydactyly ISO RGD:732217 D RGD:11072411|PMID:21155763 20170823 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0050648 atelosteogenesis ISO RGD:732217 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Atelosteogenesis 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0060576 3MC syndrome 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSA syndrome PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:13208864|PMID:24598000 20170822 RGD DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human) 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:7240710 20130221 OMIM 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18553123|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0080006 bone development disease ISO RGD:732217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0080043 achondrogenesis ISO RGD:732217 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Achondrogenesis 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:11068488|PMID:8528239 20170823 RGD DNA:mutations:cds: 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:7240710 20130221 OMIM 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:17576681|PMID:18708426|PMID:18925670|PMID:19344236|PMID:19763152|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20307669|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:22406018|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:32295296|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225|PMID:9536098 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:13208932|PMID:10482955 20170823 RGD DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human) 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:7240710 20130221 OMIM 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia PMID:10465113|PMID:10466420|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12220459|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26752647|PMID:27065010|PMID:27848944|PMID:28492532|PMID:28941661|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:702237|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8702490|PMID:8723083|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732218 D RGD:13208867|PMID:15703192 20170822 RGD 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:1600010|PMID:8571951 20070223 RGD DNA:mutation 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:2300 spondylolysis ISO RGD:732217 D RGD:13208868|PMID:26077908 20170822 RGD DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:2742 auditory system disease ISO RGD:732217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:630 genetic disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11565064|PMID:12525546|PMID:15294877|PMID:15316973|PMID:16642506|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:21077202|PMID:21155763|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:8571951|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:65 connective tissue disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:732217 D RGD:13208931|PMID:17393463 20170823 RGD DNA:SNPs: : 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9001435 Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant ISO RGD:732217 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant PMID:10466420|PMID:12220459|PMID:20301524|PMID:702237|PMID:8723083 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732217 D RGD:13208866|PMID:11558903 20170822 RGD DNA:deletion:promoter:-716_-713del4A(human) 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9003358 Kyphosis ISO RGD:732217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732217 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9006836 Contracture ISO RGD:732217 D RGD:11072411|PMID:21155763 20170823 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:7240710 20130221 OMIM 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620622 Slc26a2 solute carrier family 26 member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:7240710 20130221 OMIM 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital chloride diarrhea | ClinVar Annotator: match by term: Darrow-Gamble disease PMID:10671059|PMID:10881594|PMID:11302976|PMID:11524734|PMID:12411484|PMID:12442266|PMID:16199547|PMID:18216024|PMID:18728535|PMID:18847625|PMID:19861545|PMID:21127979|PMID:21150650|PMID:21332001|PMID:21394828|PMID:21853658|PMID:22779076|PMID:23274434|PMID:23361499|PMID:23756661|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25711268|PMID:25741868|PMID:27525615|PMID:28422190|PMID:28492532|PMID:28644346|PMID:29086717|PMID:30775050|PMID:31325522|PMID:31680349|PMID:8896562|PMID:9554749|PMID:9718329 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:13250 diarrhea ISO RGD:1346275 D RGD:1600011|PMID:8896562 20070223 RGD DNA:frameshift mutation, missense mutations 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346275 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:630 genetic disease ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:8437 intestinal obstruction ISO RGD:1346275 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:8488 polyhydramnios ISO RGD:1346275 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:8577 ulcerative colitis ISO RGD:1346275 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19915573 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1346275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:28492532|PMID:8968745|PMID:9934985 620623 Slc26a3 solute carrier family 26 member 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346275 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 620624 Arhgef7 Rho guanine nucleotide exchange factor 7 gene DOID:2222 factor X deficiency ISO RGD:736143 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 620624 Arhgef7 Rho guanine nucleotide exchange factor 7 gene DOID:630 genetic disease ISO RGD:736143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620625 Dusp4 dual specificity phosphatase 4 gene DOID:630 genetic disease ISO RGD:1348525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620625 Dusp4 dual specificity phosphatase 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620626 Hoxc6 homeo box C6 gene DOID:630 genetic disease ISO RGD:1348360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620626 Hoxc6 homeo box C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348360 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620627 Cd52 CD52 molecule gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1348187 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 620627 Cd52 CD52 molecule gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1348187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 620627 Cd52 CD52 molecule gene DOID:630 genetic disease ISO RGD:1348187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620628 Spata19 spermatogenesis associated 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606425 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 620628 Spata19 spermatogenesis associated 19 gene DOID:5419 schizophrenia ISO RGD:1606425 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620628 Spata19 spermatogenesis associated 19 gene DOID:630 genetic disease ISO RGD:1606425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620628 Spata19 spermatogenesis associated 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606425 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0050476 Barth syndrome ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0050800 creatine transporter deficiency ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0070338 cerebellar hypoplasia ISO RGD:736195 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0112003 immunodeficiency 33 ISO RGD:736195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:10588 adrenoleukodystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:1059 intellectual disability ISO RGD:736195 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23092983|PMID:25741868 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder ISO RGD:736195 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:25741868|PMID:30208311 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder susceptibility ISO RGD:736195 D RGD:7240710 20190502 OMIM 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:5419 schizophrenia ISO RGD:736195 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:607 paraplegia ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:630 genetic disease ISO RGD:736195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:736195 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 620629 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:9002720 Splenomegaly ISO RGD:736195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 62063 Zfp148 zinc finger protein 148 gene DOID:0060041 autism spectrum disorder ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 62063 Zfp148 zinc finger protein 148 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 62063 Zfp148 zinc finger protein 148 gene DOID:630 genetic disease ISO RGD:732332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12840224|PMID:27964749|PMID:28492532 62063 Zfp148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:7240710 20190315 OMIM 62063 Zfp148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies PMID:12840224|PMID:25741868|PMID:27964749 62063 Zfp148 zinc finger protein 148 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 62063 Zfp148 zinc finger protein 148 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:732332 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 62063 Zfp148 zinc finger protein 148 gene DOID:9270 alkaptonuria ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 620630 Hrh3 histamine receptor H3 gene DOID:10763 hypertension IDA D RGD:1626409|PMID:9050021 20070806 RGD 620630 Hrh3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:732356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9050021 620630 Hrh3 histamine receptor H3 gene DOID:10808 gastric ulcer IDA D RGD:1626428|PMID:15680274 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:10914 amnestic disorder IDA D RGD:1626421|PMID:17276409 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:732356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11125734 620630 Hrh3 histamine receptor H3 gene DOID:11446 sciatic neuropathy IDA D RGD:1626418|PMID:17350523 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:11832 visual epilepsy IDA D RGD:1626432|PMID:15319804 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:1824 status epilepticus IEP D RGD:1626426|PMID:16137576 20070807 RGD mRNA:increased expression:brain 620630 Hrh3 histamine receptor H3 gene DOID:4195 hyperglycemia IDA D RGD:1626408|PMID:11684344 20070806 RGD 620630 Hrh3 histamine receptor H3 gene DOID:630 genetic disease ISO RGD:732356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620630 Hrh3 histamine receptor H3 gene DOID:9000039 Spinal Cord Injuries IDA D RGD:1626425|PMID:16671478 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:9004009 Reperfusion Injury IDA D RGD:1626416|PMID:17169356 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1626433|PMID:15076218 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:9008023 Memory Disorders ISO RGD:732356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16488453 620630 Hrh3 histamine receptor H3 gene DOID:9009039 Hyperemia IDA D RGD:1626431|PMID:15381834 20070807 RGD 620630 Hrh3 histamine receptor H3 gene DOID:9970 obesity IDA D RGD:1626405|PMID:17189541 20070806 RGD 620631 Hrh4 histamine receptor H4 gene DOID:0080600 COVID-19 ISO RGD:735405 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620631 Hrh4 histamine receptor H4 gene DOID:1059 intellectual disability ISO RGD:735405 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620631 Hrh4 histamine receptor H4 gene DOID:299 adenocarcinoma ISO RGD:735405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 620631 Hrh4 histamine receptor H4 gene DOID:630 genetic disease ISO RGD:735405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620631 Hrh4 histamine receptor H4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 620631 Hrh4 histamine receptor H4 gene DOID:9006202 Pruritus ISO RGD:735405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060254 Robinow syndrome ISO RGD:733042 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733042 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:7240710 20170405 OMIM 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:10319206|PMID:23806086|PMID:24088041|PMID:25045061|PMID:25741868|PMID:25817014|PMID:25817016|PMID:26924530|PMID:28492532|PMID:29276006 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25045061|PMID:25741868|PMID:25817014|PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733042 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733042 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:733042 D RGD:1580898|PMID:8644734 19990101 RGD 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:150 disease of mental health ISO RGD:733043 D RGD:734906|PMID:9298901 19990101 RGD 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733042 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:5844 myocardial infarction IEP D RGD:1580899|PMID:15256074 20100720 RGD 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:630 genetic disease ISO RGD:733042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733042 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733042 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 620632 Dvl1 dishevelled segment polarity protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 620633 Itih3 inter-alpha trypsin inhibitor, heavy chain 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:732422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 620633 Itih3 inter-alpha trypsin inhibitor, heavy chain 3 gene DOID:630 genetic disease ISO RGD:732422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620633 Itih3 inter-alpha trypsin inhibitor, heavy chain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:7240710 20130221 OMIM 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita PMID:11410842|PMID:11641275|PMID:11966690|PMID:12406339|PMID:17609203|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:26680117|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:7240710 20130221 OMIM 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia PMID:10205263|PMID:10469319|PMID:11410842|PMID:11966690|PMID:12271294|PMID:17609203|PMID:17869066|PMID:18164595|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627|PMID:9856480|PMID:9880231|PMID:9892925 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:21919222|PMID:23548463|PMID:25741868|PMID:28492532 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0110701 hypotrichosis 4 ISO RGD:1344984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19122663 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:0110701 hypotrichosis 4 ISO RGD:1344984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 4 PMID:10777357|PMID:10854110|PMID:11069461|PMID:17680008|PMID:19122663|PMID:19897589|PMID:20659777|PMID:20814945 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:1312 focal segmental glomerulosclerosis IMP D RGD:150520024|PMID:21325752 20211021 RGD 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:576 proteinuria IMP D RGD:150520024|PMID:21325752 20211021 RGD 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:9001946 Skin Abnormalities ISO RGD:1344984 D RGD:1599576|PMID:9856480 20070207 RGD atrichia with papular lesions, OMIM:209500 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1344984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16455232 620634 Hr HR, lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:1599575|PMID:9736769 20070207 RGD alopecia universalis congenita, OMIM:203655 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:0111723 Jacobsen Syndrome ISO RGD:731778 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:2394 ovarian cancer ISO RGD:731778 D RGD:7240710 20190213 OMIM 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:5419 schizophrenia ISO RGD:731778 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:630 genetic disease ISO RGD:731778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:9002762 Ovarian Neoplasms ISO RGD:731778 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:9002762 Ovarian Neoplasms ISO RGD:731778 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12819783 620635 Opcml opioid binding protein/cell adhesion molecule-like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731778 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620636 Trpv5 transient receptor potential cation channel, subfamily V, member 5 gene DOID:630 genetic disease ISO RGD:1350143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620638 Cox8a cytochrome c oxidase subunit 8A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620638 Cox8a cytochrome c oxidase subunit 8A gene DOID:1059 intellectual disability ISO RGD:1348555 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620638 Cox8a cytochrome c oxidase subunit 8A gene DOID:3070 high grade glioma ISO RGD:1348555 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 620638 Cox8a cytochrome c oxidase subunit 8A gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25741868|PMID:26685157 620638 Cox8a cytochrome c oxidase subunit 8A gene DOID:9001092 Mitochondrial Complex IV Deficiency, Nuclear Type 15 ISO RGD:1348555 D RGD:7240710 20201111 OMIM 620638 Cox8a cytochrome c oxidase subunit 8A gene DOID:9001092 Mitochondrial Complex IV Deficiency, Nuclear Type 15 ISO RGD:1348555 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1354186 D RGD:151361139|PMID:32359697 20220224 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:151361157|PMID:24762957 20220225 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1354186 D RGD:151361213|PMID:23801167 20220301 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0050872 large cell neuroendocrine carcinoma disease_progression ISO RGD:1354186 D RGD:151361285|PMID:18440724 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:27912058 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0060041 autism spectrum disorder ISS RGD:733672 D RGD:13592920 20190516 MouseDO 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1354186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1354186 D RGD:151361211|PMID:23516127 20220301 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:1354186 D RGD:151361288|PMID:30300664 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1354186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer ISO RGD:1354186 D RGD:151361142|PMID:29367342 20220224 RGD protein:increased expression:stomach 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer severity ISO RGD:1354186 D RGD:151361296|PMID:23809372 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:1107 esophageal carcinoma severity ISO RGD:1354186 D RGD:151361282|PMID:15906366 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:11963 esophagitis ISO RGD:1354186 D RGD:151361286|PMID:28370814 20220302 RGD protein:increased expression:epithelium 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:1996 rectum adenocarcinoma treatment ISO RGD:1354186 D RGD:151361202|PMID:21036745 20220228 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:219 colon cancer treatment ISO RGD:1354186 D RGD:151361295|PMID:19900191 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:2671 transitional cell carcinoma IEP D RGD:151361118|PMID:28339760 20220223 RGD protein:increased expression:bladder 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3042 allergic contact dermatitis ISO RGD:1354186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3068 glioblastoma disease_progression ISO RGD:1354186 D RGD:151361115|PMID:16496379 20220223 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1354186 D RGD:151361115|PMID:16496379 20220223 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3070 high grade glioma ameliorates IMP D RGD:151361115|PMID:16496379 20220223 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:151361210|PMID:24890221 20220301 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3717 gastric adenocarcinoma ISO RGD:1354186 D RGD:151361203|PMID:21501294 20220228 RGD protein:increased expression:mucosa: 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354186 D RGD:151361149|PMID:33609949 20220224 RGD protein:increased expression:esophagus 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:11532833|PMID:26936531 20220228 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:151361144|PMID:31726270 20220224 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1354186 D RGD:151361158|PMID:19068093 20220225 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1354186 D RGD:151361159|PMID:21187458 20220225 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354186 D RGD:151361206|PMID:22110199 20220228 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1354186 D RGD:151361150|PMID:26279756 20220224 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1354186 D RGD:151361151|PMID:19171406 20220225 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:4896 bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:151361287|PMID:24131658 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:4897 bile duct carcinoma disease_progression ISO RGD:1354186 D RGD:151361210|PMID:24890221 20220301 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1354186 D RGD:151361214|PMID:25475870 20220301 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:1354186 D RGD:151361287|PMID:24131658 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:1354186 D RGD:151361294|PMID:28347255 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:630 genetic disease ISO RGD:1354186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma IEP D RGD:634202|PMID:7532544 20220302 RGD mRNA:increased expression:liver 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354186 D RGD:151361140|PMID:26389641 20220224 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1354186 D RGD:151361140|PMID:26389641 20220224 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1354186 D RGD:151361280|PMID:23696029 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354186 D RGD:151660330|PMID:24912849 20220303 RGD protein:increased expression:pleura 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1354186 D RGD:151361201|PMID:22199264 20220228 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:151361131|PMID:19388351 20220225 RGD protein:increased expression:spinal cord 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1354186 D RGD:151361203|PMID:21501294 20220228 RGD associated with gastric adenocarcinoma;protein:increased expression: : 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1354186 D RGD:11052781|PMID:25908107 20220228 RGD associated with stomach carcinoma 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9000918 Disease Progression disease_progression ISO RGD:1354186 D RGD:151361139|PMID:32359697 20220224 RGD associated with Colorectal Neoplasms 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354186 D RGD:151361278|PMID:19018776 20220302 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:151357003|PMID:17498859 20220222 RGD mRNA:increased expression:liver 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1354186 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1354186 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1354186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9005930 Endotoxemia IEP D RGD:151361133|PMID:26337286 20220224 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:151361111|PMID:23794090 20220223 RGD mRNA:increased expression:right and left ventricles 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity IEP D RGD:151361129|PMID:11718450 20220224 RGD associated with colon cancer 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity IEP D RGD:151361130|PMID:11745822 20220224 RGD associated with colon adenocarcinoma 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:151357001|PMID:9200186 20220222 RGD 620639 Slc7a5 solute carrier family 7 member 5 gene DOID:9256 colorectal cancer severity ISO RGD:1354186 D RGD:151361284|PMID:29344181 20220302 RGD 62064 Adra1d adrenoceptor alpha 1D gene DOID:0090103 Huntington's disease-like 1 ISO RGD:734051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 62064 Adra1d adrenoceptor alpha 1D gene DOID:11612 polycystic ovary syndrome IEP D RGD:5508374|PMID:15795180 20111013 RGD mRNA,protein:increased expression:ovary 62064 Adra1d adrenoceptor alpha 1D gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:734051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 62064 Adra1d adrenoceptor alpha 1D gene DOID:630 genetic disease ISO RGD:734051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62064 Adra1d adrenoceptor alpha 1D gene DOID:9775 diastolic heart failure ISO RGD:734051 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:0060041 autism spectrum disorder ISO RGD:736217 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:0060043 sexual health disorder ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12378847|PMID:17541852 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:1059 intellectual disability ISO RGD:736217 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:1063 interstitial nephritis ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:10652 Alzheimer's disease ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7574463 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:14330 Parkinson's disease ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14991823|PMID:15174030 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:1561 cognitive disorder EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:20727252 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736217 D RGD:11353781|PMID:10435724 20160721 RGD protein:increased expression:serum: 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:2841 asthma ISO RGD:736217 D RGD:9068941 20220825 RGD DNA:polymorphism: :1934G>A (human) PMID:19575027|REF_RGD_ID:5143944 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:3021 acute kidney failure ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19814645 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:303 substance-related disorder ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17089107 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:4483 rhinitis ISO RGD:736217 D RGD:5143945|PMID:20088379 20190821 RGD DNA:SNP:3' utr:*1934G>A (human) 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:543 dystonia ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16702617 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:630 genetic disease ISO RGD:736217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:670 amphetamine abuse ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18280655 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:679 basal ganglia disease ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16000684 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835697 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9000304 Manganese Poisoning ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12171760 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9000495 Tremor ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9001480 Muscle Rigidity ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15570195 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9002295 Poor Drug Metabolism, CYP2D6-Related ISO RGD:736217 D RGD:7240710 20140723 OMIM 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9002295 Poor Drug Metabolism, CYP2D6-Related ISO RGD:736217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Codeine, ultrarapid metabolism of | ClinVar Annotator: match by term: Debrisoquine, poor metabolism of PMID:10675100|PMID:12051754|PMID:15128046|PMID:15159443|PMID:15625333|PMID:1673290|PMID:16920476|PMID:17761971|PMID:1782973|PMID:1978251|PMID:1978565|PMID:19809024|PMID:21814747|PMID:2211621|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213|PMID:7574463|PMID:7951238|PMID:8530011|PMID:8634695|PMID:9241659|PMID:9357098 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736217 D RGD:11353781|PMID:10435724 20160721 RGD protein:increased expression:serum: 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9004657 Weight Gain ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19997080 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:736217 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9005463 Occupational Diseases ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9006462 Coma ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18359183 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23609392 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9007001 Bradycardia ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19284319 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736217 D RGD:14700879|PMID:27490558 20190822 RGD DNA:hypermethylation:promoter 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736217 D RGD:1358547|PMID:1673290 20070423 RGD 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19597703 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:736217 D RGD:11352820|PMID:11037802 20160720 RGD DNA:polymorphisms: : 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:736217 D RGD:11352828|PMID:21518482 20160720 RGD DNA:SNP: :(rs16947)(human) 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9538 multiple myeloma no_association ISO RGD:736217 D RGD:11352804|PMID:20684753 20160720 RGD DNA:polymorphisms: : 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736217 D RGD:11252111|PMID:19593802 20160720 RGD DNA:SNP,deletion:splice junction,exon:1934G>A (human) 620640 Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736217 D RGD:11352820|PMID:11037802 20160720 RGD DNA:polymorphisms: : 620641 Dap death-associated protein gene DOID:630 genetic disease ISO RGD:737267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620641 Dap death-associated protein gene DOID:8577 ulcerative colitis ISO RGD:737267 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0050562 West syndrome ISO RGD:731635 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:32004447 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731635 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:32004447 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:2843 long QT syndrome ISO RGD:731635 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731635 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24768767|PMID:26615199 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:7240710 20220216 OMIM 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation PMID:25741868|PMID:32004447 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620642 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:731635 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32004447 620643 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:3753 Hermansky-Pudlak syndrome ISS RGD:731827 D RGD:13592920 20180518 MouseDO 620643 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:731826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620643 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:7240710 20190315 OMIM 620643 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome PMID:25741868|PMID:27547915|PMID:28013294|PMID:28492532|PMID:31070736 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:0050763 ARC syndrome ISO RGD:732726 D RGD:11554173 20190924 CTD CTD Direct Evidence: marker/mechanism 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:0050763 ARC syndrome ISO RGD:732726 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome PMID:25741868|PMID:28492532 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732726 D RGD:1599749|PMID:15052268 20070213 RGD ARC syndrome, OMIM:208085 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:7240710 20190918 OMIM 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:11668108|PMID:15052268|PMID:16896922|PMID:17576681|PMID:17994566|PMID:18853461|PMID:19274792|PMID:21851503|PMID:22753090|PMID:24782640|PMID:24917129|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:31479177|PMID:8151641|PMID:9536098 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:10907 microcephaly ISO RGD:732726 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:13580 cholestasis ISO RGD:732726 D RGD:1599749|PMID:15052268 20070213 RGD ARC syndrome, OMIM:208085 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:2213 hemorrhagic disease ISO RGD:732726 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:557 kidney disease ISO RGD:732726 D RGD:1599749|PMID:15052268 20070213 RGD ARC syndrome, OMIM:208085 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:630 genetic disease ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22753090|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:9536098 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:7240710 20220831 OMIM 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:28017832 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:7240710 20220831 OMIM 620644 Vps33b VPS33B, late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 PMID:18853461|PMID:25741868|PMID:31479177 620645 Sf1 splicing factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620645 Sf1 splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1346504 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620645 Sf1 splicing factor 1 gene DOID:1909 melanoma ISO RGD:1346504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 620645 Sf1 splicing factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620645 Sf1 splicing factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620645 Sf1 splicing factor 1 gene DOID:3070 high grade glioma ISO RGD:1346504 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 620645 Sf1 splicing factor 1 gene DOID:326 ischemia IDA D RGD:727772|PMID:10103072 19990101 RGD 620645 Sf1 splicing factor 1 gene DOID:630 genetic disease ISO RGD:1346504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620645 Sf1 splicing factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346504 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620646 Otof otoferlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10903124|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16226319|PMID:16371502|PMID:17036997|PMID:18381613|PMID:19250381|PMID:19461658|PMID:20146813|PMID:20224275|PMID:20301429|PMID:21117948|PMID:21557232|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27729456|PMID:28492532|PMID:28766844|PMID:29196752|PMID:29484972|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32906206|PMID:33256196|PMID:33426078|PMID:34536124|PMID:34652575 620646 Otof otoferlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:12525542|PMID:14635104|PMID:19250381|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26632695|PMID:27082237|PMID:28492532|PMID:30303587 620646 Otof otoferlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1550733 D RGD:9479154|PMID:17967520 20140827 RGD DNA:missense mutation:cds:p.I318N (mouse) 620646 Otof otoferlin gene DOID:0060744 Pendred syndrome ISO RGD:1344284 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 620646 Otof otoferlin gene DOID:0080600 COVID-19 ISO RGD:1344284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:7240710 20130221 OMIM 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:737640|PMID:10903124 20140827 RGD DNA:snp:intron:IVS8-2A>G (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26188103|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28335750|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29196752|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9479153|PMID:10192385 20140827 RGD DNA:nonsense mutation:cds:p.Y730X (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9479156|PMID:12114484 20140827 RGD DNA:nonsense mutation:cds:p.Q829X (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9479157|PMID:16097006 20140827 RGD DNA:missense mutation:cds:p.L1011P (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9479161|PMID:20230791 20140827 RGD associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9491386|PMID:14635104 20140909 RGD DNA:snps, deletion:cds:multiple (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9491826|PMID:22575033 20140915 RGD DNA:missense mutation:cds:p.R1939Q (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:9585724|PMID:22906306 20140922 RGD DNA:duplication:cds:c.1981dupG (human) 620646 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1550733 D RGD:9491826|PMID:22575033 20140915 RGD DNA:missense mutation:cds:p.D1767G (mouse) 620646 Otof otoferlin gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:1344284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:19461658|PMID:24033266|PMID:25741868|PMID:30311386|PMID:34599368|PMID:34652575 620646 Otof otoferlin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620646 Otof otoferlin gene DOID:10003 sensorineural hearing loss ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:12525542|PMID:16371502|PMID:18381613|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20301429|PMID:21117948|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24746455|PMID:25741868|PMID:26188103|PMID:26445815|PMID:26467025|PMID:27082237|PMID:27729456|PMID:28492532|PMID:29196752|PMID:29484972|PMID:30311386|PMID:31589614|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33256196|PMID:34536124|PMID:34599368|PMID:34652575 620646 Otof otoferlin gene DOID:1459 hypothyroidism IEP D RGD:9491752|PMID:17376979 20140910 RGD mRNA, protein:decreased expression:cochlea (rat) 620646 Otof otoferlin gene DOID:630 genetic disease ISO RGD:1344284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 620646 Otof otoferlin gene DOID:9002687 Arthrogryposis and Ectodermal Dysplasia ISO RGD:1344284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichooculodermovertebral syndrome PMID:35802133|PMID:36633841 620646 Otof otoferlin gene DOID:9004538 Hearing Loss ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18381613|PMID:20146813|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30311386|PMID:31581539 620646 Otof otoferlin gene DOID:9008681 Deafness ISO RGD:1344284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17967520 620646 Otof otoferlin gene DOID:9008681 Deafness ISO RGD:1344284 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 620646 Otof otoferlin gene DOID:9008681 Deafness ISO RGD:1550733 D RGD:9491387|PMID:17055430 20140909 RGD 620647 Atp2c2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732511 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 620647 Atp2c2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:732511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:733588 D RGD:14390165|PMID:28956815 20190225 RGD protein:decreased expression:breast 620648 Barhl1 BarH-like homeobox 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:10652 Alzheimer's disease ISO RGD:733588 D RGD:14390165|PMID:28956815 20190225 RGD protein:decreased expression:brain 620648 Barhl1 BarH-like homeobox 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733588 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:3070 high grade glioma ISO RGD:733588 D RGD:14390165|PMID:28956815 20190225 RGD protein:increased expression:brain: 620648 Barhl1 BarH-like homeobox 1 gene DOID:3652 Leigh disease ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 620648 Barhl1 BarH-like homeobox 1 gene DOID:630 genetic disease ISO RGD:733588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620648 Barhl1 BarH-like homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:733589 D RGD:14390166|PMID:12091321 20190225 RGD 620649 Hmgn2 high mobility group nucleosomal binding domain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISS RGD:1550392 D RGD:13592920 20180518 MouseDO OMIM:180500 620649 Hmgn2 high mobility group nucleosomal binding domain 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 62065 Extl3 exostosin-like glycosyltransferase 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 62065 Extl3 exostosin-like glycosyltransferase 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 62065 Extl3 exostosin-like glycosyltransferase 3 gene DOID:630 genetic disease ISO RGD:735783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 62065 Extl3 exostosin-like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:7240710 20190315 OMIM 62065 Extl3 exostosin-like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities PMID:25741868|PMID:28132690|PMID:28148688|PMID:28492532 620650 Rab3ip RAB3A interacting protein gene DOID:630 genetic disease ISO RGD:732155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:0050589 inflammatory bowel disease ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:10283 prostate cancer ISO RGD:737499 D RGD:2326167|PMID:18288643 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:10283 prostate cancer ISO RGD:737499 D RGD:2326168|PMID:16533428 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:7240710 20190315 OMIM 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein-losing enteropathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28657829|PMID:28657861|PMID:9536098 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:12849 autistic disorder ISO RGD:737499 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:737499 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:1612 breast cancer disease_progression ISO RGD:737499 D RGD:2326166|PMID:18676748 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:1612 breast cancer disease_progression ISO RGD:737499 D RGD:2326170|PMID:15102687 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:2870 endometrial adenocarcinoma ISO RGD:737499 D RGD:2326173|PMID:11506079 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:289 endometriosis ISO RGD:737499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:4362 cervical cancer ISO RGD:737499 D RGD:2293549|PMID:9358772 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:576 proteinuria IMP D RGD:2326179|PMID:12427125 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:630 genetic disease ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:670 amphetamine abuse ISO RGD:737499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:769 neuroblastoma IMP D RGD:2326181|PMID:10850450 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737499 D RGD:13702890|PMID:12533688 20180723 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:9004009 Reperfusion Injury IEP D RGD:2326175|PMID:20403613 20100628 RGD 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620651 Cd55 CD55 molecule (Cromer blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737499 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620652 Espn espin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:731924 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 620652 Espn espin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731924 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620652 Espn espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:7240710 20130221 OMIM 620652 Espn espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant PMID:15286153|PMID:15930085|PMID:18973245|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:30303587|PMID:32747562|PMID:33297549|PMID:35802133|PMID:36633841|PMID:9763424 620652 Espn espin gene DOID:0110826 Usher syndrome type 1 ISO RGD:731924 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:29572253 620652 Espn espin gene DOID:10003 sensorineural hearing loss ISO RGD:731924 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 620652 Espn espin gene DOID:3426 vestibular disease ISO RGD:10825 D RGD:734943|PMID:10975527 19990101 RGD 620652 Espn espin gene DOID:3426 vestibular disease ISO RGD:731924 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15286153 620652 Espn espin gene DOID:630 genetic disease ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25356970|PMID:28492532 620652 Espn espin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731924 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620652 Espn espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:7240710 20191030 OMIM 620652 Espn espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1M PMID:15930085|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:33297549 620652 Espn espin gene DOID:9008681 Deafness ISO RGD:10825 D RGD:734943|PMID:10975527 19990101 RGD 620652 Espn espin gene DOID:9008681 Deafness ISO RGD:731924 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15286153|PMID:15930085 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:732825 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:7240710 20130221 OMIM 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 PMID:19061983|PMID:24583203|PMID:25402622|PMID:25741868|PMID:26467025|PMID:28492532 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:607 paraplegia ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22243965|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:630 genetic disease ISO RGD:732825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:83 cataract ISO RGD:732825 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:9004538 Hearing Loss ISO RGD:732825 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:7240710 20140911 OMIM 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration PMID:15902551|PMID:22243965|PMID:22508683|PMID:25741868|PMID:28492532|PMID:31194315 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 620653 Slc33a1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 620654 Tmprss11d transmembrane serine protease 11D gene DOID:0080599 Coronavirus infectious disease ISO RGD:1606328 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:24227843 620654 Tmprss11d transmembrane serine protease 11D gene DOID:2945 severe acute respiratory syndrome ISO RGD:1606328 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:24227843 620654 Tmprss11d transmembrane serine protease 11D gene DOID:630 genetic disease ISO RGD:1606328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620654 Tmprss11d transmembrane serine protease 11D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606328 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620654 Tmprss11d transmembrane serine protease 11D gene DOID:9001488 Human Influenza ISO RGD:1606328 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20237084|PMID:23072892 620654 Tmprss11d transmembrane serine protease 11D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606328 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620655 Dhrs9 dehydrogenase/reductase 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736293 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 620655 Dhrs9 dehydrogenase/reductase 9 gene DOID:630 genetic disease ISO RGD:736293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620655 Dhrs9 dehydrogenase/reductase 9 gene DOID:9003996 Birth Weight ISO RGD:736293 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34200176 620656 Fat2 FAT atypical cadherin 2 gene DOID:0050952 spastic ataxia ISO RGD:732170 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 620656 Fat2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:7240710 20190315 OMIM 620656 Fat2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 620656 Fat2 FAT atypical cadherin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620656 Fat2 FAT atypical cadherin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732170 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 620656 Fat2 FAT atypical cadherin 2 gene DOID:630 genetic disease ISO RGD:732170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620656 Fat2 FAT atypical cadherin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620657 Fat3 FAT atypical cadherin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620657 Fat3 FAT atypical cadherin 3 gene DOID:1059 intellectual disability ISO RGD:1351260 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620657 Fat3 FAT atypical cadherin 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351260 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 620657 Fat3 FAT atypical cadherin 3 gene DOID:630 genetic disease ISO RGD:1351260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620657 Fat3 FAT atypical cadherin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay 620658 Eloc elongin C gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:733902 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 620658 Eloc elongin C gene DOID:4450 renal cell carcinoma ISO RGD:733902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 620658 Eloc elongin C gene DOID:4450 renal cell carcinoma ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 620658 Eloc elongin C gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 620659 Clic5 chloride intracellular channel 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351761 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 620659 Clic5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:7240710 20170308 OMIM 620659 Clic5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 103 PMID:24033266|PMID:24781754|PMID:25741868|PMID:28492532 620659 Clic5 chloride intracellular channel 5 gene DOID:630 genetic disease ISO RGD:1351761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620659 Clic5 chloride intracellular channel 5 gene DOID:9004538 Hearing Loss ISO RGD:1351761 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0080690 RASopathy ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081329 glycogen storage disease I ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10482962|PMID:10923042|PMID:10940311|PMID:12444104|PMID:15669677|PMID:15757503|PMID:17994282|PMID:20578944|PMID:22899091|PMID:25741868|PMID:26913919|PMID:28492532|PMID:28685844|PMID:9758626 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081329 glycogen storage disease I TAS D RGD:61591|PMID:9822626 19990101 RGD 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:1599000|PMID:9428641 20070111 RGD DNA:missense mutation:cds:p.G339C (human) 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:7240710 20130221 OMIM 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar Annotator: match by term: Glycogen storage disease Ib PMID:10026167|PMID:10323254|PMID:10482875|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10874322|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12409273|PMID:12444104|PMID:15059622|PMID:15260472|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:16199547|PMID:16716283|PMID:17307551|PMID:17576681|PMID:17994282|PMID:18337460|PMID:18437526|PMID:18835800|PMID:18996862|PMID:19454374|PMID:20301489|PMID:20386986|PMID:20578944|PMID:21575371|PMID:21629566|PMID:21659346|PMID:21983240|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:24745989|PMID:25308557|PMID:25741868|PMID:25881301|PMID:25982172|PMID:26913919|PMID:27848944|PMID:28224773|PMID:28394482|PMID:28492532|PMID:28685844|PMID:29119402|PMID:29146883|PMID:29549044|PMID:29581464|PMID:30290665|PMID:31508908|PMID:31617422|PMID:32300528|PMID:32374048|PMID:32884905|PMID:33083013|PMID:33728255|PMID:33731098|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:7240710 20130221 OMIM 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD Ic PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:18996862|PMID:20301489|PMID:20578944|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32374048|PMID:32884905|PMID:33728255|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1351082 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:2747 glycogen storage disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:2749 glycogen storage disease Ia ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:20578944|PMID:25741868|PMID:28492532 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:2749 glycogen storage disease Ia ISS RGD:62358 D RGD:13592920 20180518 MouseDO OMIM:232200 | OMIM:232220 | OMIM:232240 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:5419 schizophrenia ISO RGD:1351082 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:630 genetic disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:7240710 20210929 OMIM 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:20301489|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9675154|PMID:9758626|PMID:9781688 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9002258 Glucose-6-Phosphate Translocase Deficiency ISO RGD:1351082 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate translocase deficiency PMID:10508514|PMID:10940311|PMID:12444104|PMID:15906092|PMID:23810759|PMID:25741868|PMID:28394482|PMID:28492532|PMID:9781688 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351082 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9005369 Hepatomegaly ISO RGD:1351082 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:10923042|PMID:12444104|PMID:15669677|PMID:17994282|PMID:26913919|PMID:28492532|PMID:28685844 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625641|PMID:10567346 20070615 RGD protein:increased expression:liver 62066 Slc37a4 solute carrier family 37 member 4 gene DOID:9007661 Dwarfism ISO RGD:1351082 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0060041 autism spectrum disorder ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0060496 respiratory allergy ISO RGD:734188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18441283 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:734188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:734188 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:0111621 Temtamy syndrome ISO RGD:734188 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:11168 anogenital venereal wart ISO RGD:734188 D RGD:39128248|PMID:18543080 20200929 RGD protein:increased expression:foreskin 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:182 calcinosis ISO RGD:734188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:4079 heart valve disease ISO RGD:734188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:4362 cervical cancer ISO RGD:734188 D RGD:39128248|PMID:18543080 20200929 RGD protein:increased expression:foreskin 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:630 genetic disease ISO RGD:734188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734188 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 620660 Ptpn6 protein tyrosine phosphatase, non-receptor type 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734188 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1342836 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:7240710 20140911 OMIM 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome PMID:21549337|PMID:23720404|PMID:28492532 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:1059 intellectual disability ISO RGD:1342836 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:155791679|PMID:29059470 20230105 RGD mRNA, protein:increased expression:liver (rat) 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342836 D RGD:155791679|PMID:29059470 20230105 RGD mRNA, protein:increased expression:liver (human) 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732240 D RGD:155791679|PMID:29059470 20230105 RGD 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 620662 Banf1 BAF nuclear assembly factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 620663 Igsf6 immunoglobulin superfamily, member 6 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1343123 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 620663 Igsf6 immunoglobulin superfamily, member 6 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1343123 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 620663 Igsf6 immunoglobulin superfamily, member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1343123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 620663 Igsf6 immunoglobulin superfamily, member 6 gene DOID:630 genetic disease ISO RGD:1343123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620663 Igsf6 immunoglobulin superfamily, member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343123 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620664 Hspa2 heat shock protein family A (Hsp70) member 2 gene DOID:630 genetic disease ISO RGD:735843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620664 Hspa2 heat shock protein family A (Hsp70) member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 620664 Hspa2 heat shock protein family A (Hsp70) member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620665 Fasn fatty acid synthase gene DOID:0060041 autism spectrum disorder ISO RGD:1347691 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 620665 Fasn fatty acid synthase gene DOID:1059 intellectual disability ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 620665 Fasn fatty acid synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 620665 Fasn fatty acid synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 620665 Fasn fatty acid synthase gene DOID:14566 disease of cellular proliferation ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20373869 620665 Fasn fatty acid synthase gene DOID:1826 epilepsy ISO RGD:1347691 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 620665 Fasn fatty acid synthase gene DOID:1909 melanoma ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18770866|PMID:20805790|PMID:21213365 620665 Fasn fatty acid synthase gene DOID:3382 liposarcoma ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20372807 620665 Fasn fatty acid synthase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347691 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 620665 Fasn fatty acid synthase gene DOID:3910 lung adenocarcinoma ISO RGD:1347691 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620665 Fasn fatty acid synthase gene DOID:6000 congestive heart failure ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 620665 Fasn fatty acid synthase gene DOID:630 genetic disease ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620665 Fasn fatty acid synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:15543204|PMID:21147110 620665 Fasn fatty acid synthase gene DOID:783 end stage renal disease ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 620665 Fasn fatty acid synthase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347691 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 620665 Fasn fatty acid synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:21937992|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28714951|PMID:30504930|PMID:9536098 620665 Fasn fatty acid synthase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 620665 Fasn fatty acid synthase gene DOID:9006205 Animal Disease Models ISO RGD:1347691 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620665 Fasn fatty acid synthase gene DOID:9006646 Metabolic Syndrome ISO RGD:1615200 D RGD:329333017|PMID:29684438 20230426 RGD mRNA:increased expression:liver (mouse) 620665 Fasn fatty acid synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620665 Fasn fatty acid synthase gene DOID:9008939 Breast Neoplasms ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17089011|PMID:18281512 620665 Fasn fatty acid synthase gene DOID:9009121 lung metastasis ISO RGD:1347691 D RGD:126790467|PMID:20604875 20210422 RGD associated with head and neck squamous cell carcinoma 620665 Fasn fatty acid synthase gene DOID:9256 colorectal cancer ISO RGD:1347691 D RGD:153350127|PMID:32525817 20220908 RGD mRNA,protein:increased expression:colorectum: 620665 Fasn fatty acid synthase gene DOID:9970 obesity ISO RGD:1347691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:11870 Pick's disease ISO RGD:732805 D RGD:7495833|PMID:12392790 20131216 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:1205 allergic disease ISO RGD:732805 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21544193 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:732805 D RGD:1302548|PMID:11593045 20150113 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732805 D RGD:2293338|PMID:16489030 20080528 RGD expression of the human gene inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:4362 cervical cancer ISO RGD:732805 D RGD:7495806|PMID:20980434 20131216 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:630 genetic disease ISO RGD:732805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:678 progressive supranuclear palsy ISO RGD:732805 D RGD:7495833|PMID:12392790 20131216 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:732805 D RGD:2293334|PMID:17577251 20080711 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9000197 Edema ISO RGD:732805 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21544193 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1552419 D RGD:7495832|PMID:17016428 20131216 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9000774 Brain Death IDA D RGD:7495829|PMID:23157661 20131216 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:2293334|PMID:17577251 20080527 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:732805 D RGD:2293337|PMID:16322247 20080528 RGD expression of human gene has no effect on metastatic colonization of secondary sites by cancer cells in the AT6.1 model system 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002928 Colonic Neoplasms ISO RGD:732805 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15037631 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9003936 Cardiomegaly ISO RGD:1552419 D RGD:13782145|PMID:12750397 20180823 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9003936 Cardiomegaly ISO RGD:1552419 D RGD:1582275|PMID:15722372 20061103 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7495813|PMID:11473637 20131217 RGD mRNA:increased expression:kidney, glomerulus 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552419 D RGD:7495840|PMID:14749328 20131217 RGD 620666 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732805 D RGD:1582277|PMID:15492008 20180823 RGD 620667 Dck deoxycytidine kinase gene DOID:630 genetic disease ISO RGD:1344747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620667 Dck deoxycytidine kinase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1344747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620668 Synpo synaptopodin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:735344 D RGD:40902998|PMID:22125642 20201222 RGD 620668 Synpo synaptopodin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620668 Synpo synaptopodin gene DOID:1184 nephrotic syndrome ISO RGD:735343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:33615071 620668 Synpo synaptopodin gene DOID:630 genetic disease ISO RGD:735343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620668 Synpo synaptopodin gene DOID:784 chronic kidney disease treatment ISO RGD:735343 D RGD:155631310|PMID:33298161 20221101 RGD human cells in rat model 620668 Synpo synaptopodin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:733865 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:630 genetic disease ISO RGD:733865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:733865 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733865 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:7240710 20140903 OMIM 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 16 PMID:21692081|PMID:22019780|PMID:24206041|PMID:25741868|PMID:28492532|PMID:30707351 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:733865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733865 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21720004 620669 Dnase1l3 deoxyribonuclease 1-like 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:733865 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22019780 62067 Rpl23 ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:1354324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620670 Dcx doublecortin gene DOID:0050453 lissencephaly ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837 620670 Dcx doublecortin gene DOID:0050453 lissencephaly ISS RGD:731627 D RGD:13592920 20180518 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 620670 Dcx doublecortin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348637 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620670 Dcx doublecortin gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1348637 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 620670 Dcx doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:12904717|PMID:10369164 20170518 RGD DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human) 620670 Dcx doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 620670 Dcx doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:7240710 20210331 OMIM 620670 Dcx doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation PMID:10369164|PMID:10749977|PMID:11071144|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:29706646|PMID:30979500|PMID:32238909|PMID:35213059|PMID:9489699|PMID:9489700 620670 Dcx doublecortin gene DOID:11832 visual epilepsy ISO RGD:731627 D RGD:12904723|PMID:18575605 20170519 RGD 620670 Dcx doublecortin gene DOID:11832 visual epilepsy onset IMP D RGD:12904732|PMID:20164125 20170519 RGD associated with Subcortical Band Heterotopia, X-Linked 620670 Dcx doublecortin gene DOID:12849 autistic disorder ISO RGD:1348637 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620670 Dcx doublecortin gene DOID:14500 fucosidosis ISO RGD:1348637 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868 620670 Dcx doublecortin gene DOID:1459 hypothyroidism IEP D RGD:12904757|PMID:22595232 20170522 RGD protein:altered expression:cerebellum 620670 Dcx doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:17111359|PMID:18414213|PMID:25326635|PMID:25741868 620670 Dcx doublecortin gene DOID:3070 high grade glioma ISO RGD:731627 D RGD:12904748|PMID:17178868 20170522 RGD 620670 Dcx doublecortin gene DOID:3070 high grade glioma disease_progression ISO RGD:1348637 D RGD:12904761|PMID:21477071 20170522 RGD 620670 Dcx doublecortin gene DOID:3070 high grade glioma treatment ISO RGD:731627 D RGD:12904754|PMID:19681167 20170522 RGD 620670 Dcx doublecortin gene DOID:3328 temporal lobe epilepsy ISO RGD:1348637 D RGD:12904713|PMID:20888264 20170518 RGD protein:decreased expression:hippocampus 620670 Dcx doublecortin gene DOID:3454 brain infarction IEP D RGD:155630606|PMID:12161747 20221025 RGD protein:altered expression:brain (rat) 620670 Dcx doublecortin gene DOID:5419 schizophrenia ISO RGD:1348637 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620670 Dcx doublecortin gene DOID:630 genetic disease ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369164|PMID:11071144|PMID:11175293|PMID:11468322|PMID:12552055|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:25868952|PMID:26467025|PMID:28492532|PMID:32238909|PMID:35213059|PMID:9618162 620670 Dcx doublecortin gene DOID:9000660 Choristoma ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:10369164|PMID:10807542|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:17576681|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:31481326|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9536098|PMID:9618162|PMID:9668176|PMID:9989615 620670 Dcx doublecortin gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:28492532|PMID:35213059 620670 Dcx doublecortin gene DOID:9001379 Lissencephaly and Agenesis of Corpus Callosum ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum | ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked PMID:10369164|PMID:10441340|PMID:10749977|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:30979500|PMID:35213059|PMID:9489699|PMID:9489700 620670 Dcx doublecortin gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:12904766|PMID:24144742 20170523 RGD protein:increased expression:dentate gyrus 620670 Dcx doublecortin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348637 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:9489700 620670 Dcx doublecortin gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1348637 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:18414213 620670 Dcx doublecortin gene DOID:9006534 Nervous System Malformations ISO RGD:1348637 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 620670 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism 620670 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:11568595|PMID:27292316 20170519 RGD DNA:missense mutation:exon:p.D262G (c.785A>G) (human) 620670 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:12904728|PMID:12838518 20170519 RGD DNA:missense mutations: :multiple 620670 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:12904735|PMID:11071144 20170519 RGD DNA:missense mutation:exon:p.A71S (211G>T) (human) 620670 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly, X-linked PMID:10369164|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:30979500|PMID:35213059|PMID:9489699|PMID:9489700 620670 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked IMP D RGD:12904725|PMID:19098909 20170519 RGD 620670 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:12904718|PMID:19050731 20170518 RGD DNA:deletions 620670 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:12904762|PMID:9618162 20170522 RGD DNA:nonsense mutation: :p.R186C (971C>T) (human) 620670 Dcx doublecortin gene DOID:9352 type 2 diabetes mellitus IEP D RGD:12904763|PMID:18982449 20170522 RGD protein:decreased expression:dentate gyrus 620671 Deaf1 DEAF1 transcription factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:0050729 neutral lipid storage disease ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:30763456|PMID:30923367 620671 Deaf1 DEAF1 transcription factor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 620671 Deaf1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:7240710 20140911 OMIM 620671 Deaf1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES PMID:11690625|PMID:21076407|PMID:23020937|PMID:24726472|PMID:25326635|PMID:25741868|PMID:26048982|PMID:26467025|PMID:28213671|PMID:28492532|PMID:28940898|PMID:30923367 620671 Deaf1 DEAF1 transcription factor gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:25741868|PMID:28492532|PMID:30923367 620671 Deaf1 DEAF1 transcription factor gene DOID:0080773 delta beta-thalassemia ISO RGD:731970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 620671 Deaf1 DEAF1 transcription factor gene DOID:0111969 immunodeficiency 39 ISO RGD:731970 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:10283 prostate cancer ISO RGD:731970 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620671 Deaf1 DEAF1 transcription factor gene DOID:1059 intellectual disability ISO RGD:731970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 620671 Deaf1 DEAF1 transcription factor gene DOID:1059 intellectual disability ISO RGD:731970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:28714951|PMID:31785789|PMID:31981491 620671 Deaf1 DEAF1 transcription factor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731970 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:630 genetic disease ISO RGD:731970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24668509|PMID:24726472|PMID:25741868|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28213671|PMID:28492532|PMID:28588821|PMID:28714951|PMID:28940898|PMID:30923367|PMID:31785789|PMID:31981491|PMID:33726816|PMID:9697411 620671 Deaf1 DEAF1 transcription factor gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731970 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:7240710 20190315 OMIM 620671 Deaf1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder PMID:11690625|PMID:24668509|PMID:25741868|PMID:26048982|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28492532|PMID:28940898|PMID:30923367|PMID:31688097|PMID:31929336 620671 Deaf1 DEAF1 transcription factor gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:25741868|PMID:28492532 620671 Deaf1 DEAF1 transcription factor gene DOID:9008582 Developmental Disease ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620671 Deaf1 DEAF1 transcription factor gene DOID:9970 obesity ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 620672 Apln apelin gene DOID:0060180 colitis IEP D RGD:1626177|PMID:17391779 20070719 RGD 620672 Apln apelin gene DOID:0060224 atrial fibrillation ISO RGD:1351986 D RGD:1626174|PMID:16278229 20070719 RGD protein:decreased expression:plasma 620672 Apln apelin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351986 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620672 Apln apelin gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 620672 Apln apelin gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 620672 Apln apelin gene DOID:10763 hypertension IEP D RGD:1626176|PMID:15664402 20070719 RGD mRNA:decreased expression:aorta, heart 620672 Apln apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:1600932|PMID:15970339 20070719 RGD protein:increased expression:plasma 620672 Apln apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:2313938|PMID:19756893 20091027 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 620672 Apln apelin gene DOID:12849 autistic disorder ISO RGD:1351986 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620672 Apln apelin gene DOID:1920 hyperuricemia ISO RGD:1351986 D RGD:11554173 20190507 CTD CTD Direct Evidence: therapeutic PMID:30710622 620672 Apln apelin gene DOID:4248 coronary stenosis ISO RGD:1351986 D RGD:2313942|PMID:19015606 20091028 RGD protein:decreased expression:plasma 620672 Apln apelin gene DOID:6000 congestive heart failure IDA D RGD:1626171|PMID:17055480 20070719 RGD associated with Hypertension, Pulmonary 620672 Apln apelin gene DOID:6000 congestive heart failure IEP D RGD:1626186|PMID:17119870 20070720 RGD protein:increased expression:ventricle myocardium 620672 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:1351986 D RGD:1626175|PMID:16263185 20070719 RGD protein:decreased expression:plasma 620672 Apln apelin gene DOID:630 genetic disease ISO RGD:1351986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620672 Apln apelin gene DOID:6432 pulmonary hypertension ISO RGD:1351986 D RGD:1626175|PMID:16263185 20070719 RGD protein:decreased expression:plasma 620672 Apln apelin gene DOID:684 hepatocellular carcinoma ISO RGD:1351986 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620672 Apln apelin gene DOID:8577 ulcerative colitis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 620672 Apln apelin gene DOID:8778 Crohn's disease ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 620672 Apln apelin gene DOID:9000784 Fibrosis ISO RGD:1351986 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 620672 Apln apelin gene DOID:9003936 Cardiomegaly IEP D RGD:1626173|PMID:16674982 20070719 RGD associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium 620672 Apln apelin gene DOID:9003936 Cardiomegaly ISO RGD:1351986 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 620672 Apln apelin gene DOID:9006024 Hypotension ISO RGD:1351986 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 620672 Apln apelin gene DOID:9007692 Insulin Resistance IEP D RGD:1626170|PMID:17594060 20070719 RGD mRNA:increased expression:subcutaneous adipose tissue 620672 Apln apelin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351986 D RGD:2313944|PMID:18484561 20091028 RGD protein:decreased expression:plasma 620672 Apln apelin gene DOID:9775 diastolic heart failure ISO RGD:1351986 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 620672 Apln apelin gene DOID:9970 obesity IEP D RGD:1626170|PMID:17594060 20070719 RGD mRNA:increased expression:subcutaneous adipose tissue 620673 Strbp spermatid perinuclear RNA binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:1352738 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620673 Strbp spermatid perinuclear RNA binding protein gene DOID:630 genetic disease ISO RGD:1352738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620673 Strbp spermatid perinuclear RNA binding protein gene DOID:9006205 Animal Disease Models ISO RGD:1352738 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620674 Taldo1 transaldolase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:733188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:733188 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 620674 Taldo1 transaldolase 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:733188 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:14330 Parkinson's disease ISO RGD:733188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 620674 Taldo1 transaldolase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733188 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:733188 D RGD:1599293|PMID:11283793 20070129 RGD Transaldolase deficiency, OMIM:606003 620674 Taldo1 transaldolase 1 gene DOID:630 genetic disease ISO RGD:733188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 620674 Taldo1 transaldolase 1 gene DOID:83 cataract ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:7240710 20130221 OMIM 620674 Taldo1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EYAID SYNDROME PMID:10869557|PMID:11283793|PMID:15877206|PMID:18331807|PMID:23315216|PMID:24033266|PMID:24497183|PMID:25326635|PMID:25388407|PMID:25741868|PMID:26238251|PMID:28492532|PMID:28776642|PMID:29292491|PMID:29923087|PMID:31769880 620674 Taldo1 transaldolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 620674 Taldo1 transaldolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 620675 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732451 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 620675 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 620675 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:630 genetic disease ISO RGD:732451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620675 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:8541 Sezary's disease ISO RGD:732451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 620676 Rps6ka2 ribosomal protein S6 kinase A2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348784 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 620676 Rps6ka2 ribosomal protein S6 kinase A2 gene DOID:3312 bipolar disorder ISO RGD:1348784 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 620676 Rps6ka2 ribosomal protein S6 kinase A2 gene DOID:630 genetic disease ISO RGD:1348784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620677 Ltc4s leukotriene C4 synthase gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:733491 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 620677 Ltc4s leukotriene C4 synthase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733491 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 620677 Ltc4s leukotriene C4 synthase gene DOID:0060500 drug allergy ISO RGD:733491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 620677 Ltc4s leukotriene C4 synthase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 620677 Ltc4s leukotriene C4 synthase gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9393345|PMID:9466979|PMID:10970818|PMID:20485159 620677 Ltc4s leukotriene C4 synthase gene DOID:0112103 Sotos syndrome 1 ISO RGD:733491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 620677 Ltc4s leukotriene C4 synthase gene DOID:10754 otitis media ISO RGD:10355889 D RGD:9068941 20200609 RGD PMID:20433028|REF_RGD_ID:11553910 620677 Ltc4s leukotriene C4 synthase gene DOID:2921 glomerulonephritis IEP D RGD:2316641|PMID:7827126 20100218 RGD protein:altered activity:kidney, cortex (rat) 620677 Ltc4s leukotriene C4 synthase gene DOID:574 peripheral nervous system disease IEP D RGD:2316612|PMID:19908283 20100218 RGD mRNA:increased expression:spinal cord dorsal horn (rat) 620677 Ltc4s leukotriene C4 synthase gene DOID:630 genetic disease ISO RGD:733491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620677 Ltc4s leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:7240710 20141015 OMIM 620677 Ltc4s leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukotriene c4 synthase deficiency PMID:25741868 620677 Ltc4s leukotriene C4 synthase gene DOID:9004590 Acute Liver Failure IEP D RGD:2302283|PMID:18461660 20100218 RGD mRNA, protein:increased expression:liver (rat) 620679 Osgin1 oxidative stress induced growth inhibitor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1607033 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 620679 Osgin1 oxidative stress induced growth inhibitor 1 gene DOID:630 genetic disease ISO RGD:1607033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620679 Osgin1 oxidative stress induced growth inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620679 Osgin1 oxidative stress induced growth inhibitor 1 gene DOID:9005126 Malonic Aciduria ISO RGD:1607033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 620679 Osgin1 oxidative stress induced growth inhibitor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1607033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:7240710 20140911 OMIM 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 6 PMID:21722858|PMID:25741868|PMID:28492532 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:0080600 COVID-19 ISO RGD:731757 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:1909 melanoma ISO RGD:731757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:630 genetic disease ISO RGD:731757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731757 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 62068 Ptpro protein tyrosine phosphatase, receptor type, O gene DOID:9007188 Liver Neoplasms ISO RGD:731757 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:20163174 620680 Pom121 POM121 transmembrane nucleoporin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605101 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620680 Pom121 POM121 transmembrane nucleoporin gene DOID:630 genetic disease ISO RGD:1605101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620680 Pom121 POM121 transmembrane nucleoporin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605101 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620680 Pom121 POM121 transmembrane nucleoporin gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1605101 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 620681 Tcn2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:7240710 20130221 OMIM 620681 Tcn2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transcobalamin II deficiency PMID:10518276|PMID:12091374|PMID:12194912|PMID:12707225|PMID:14632784|PMID:16199547|PMID:17220211|PMID:17576681|PMID:19373259|PMID:20352340|PMID:20607612|PMID:22188304|PMID:24033266|PMID:2430590|PMID:25741868|PMID:27155006|PMID:28492532|PMID:29631995|PMID:32888943|PMID:7849710|PMID:7980584|PMID:9536098 620681 Tcn2 transcobalamin 2 gene DOID:0080600 COVID-19 ISO RGD:1347590 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620681 Tcn2 transcobalamin 2 gene DOID:12450 pancytopenia ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:16199547|PMID:20352340|PMID:28492532|PMID:7980584 620681 Tcn2 transcobalamin 2 gene DOID:12849 autistic disorder ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16917939 620681 Tcn2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 620681 Tcn2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:1580450|PMID:7849710 19990101 RGD 620681 Tcn2 transcobalamin 2 gene DOID:14330 Parkinson's disease ISO RGD:1347590 D RGD:11060125|PMID:20027219 20160419 RGD 620681 Tcn2 transcobalamin 2 gene DOID:2917 cryoglobulinemia ISO RGD:1347590 D RGD:11060121|PMID:3574578 20160419 RGD associated with Glomerulonephritis;protein:increased expression:serum: 620681 Tcn2 transcobalamin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347590 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 620681 Tcn2 transcobalamin 2 gene DOID:630 genetic disease ISO RGD:1347590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20352340|PMID:25741868|PMID:28492532|PMID:7980584 620681 Tcn2 transcobalamin 2 gene DOID:657 adenoma ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 620681 Tcn2 transcobalamin 2 gene DOID:9000300 Refractory Anemia ISO RGD:1347590 D RGD:11060122|PMID:1059479 20160419 RGD protein:increased expression:: 620681 Tcn2 transcobalamin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620681 Tcn2 transcobalamin 2 gene DOID:9002473 Blast Crisis ISO RGD:1347590 D RGD:11060122|PMID:1059479 20160419 RGD protein:increased expression:: 620681 Tcn2 transcobalamin 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 620681 Tcn2 transcobalamin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 620681 Tcn2 transcobalamin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 620681 Tcn2 transcobalamin 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1347590 D RGD:11060122|PMID:1059479 20160419 RGD protein:increased expression:: 620681 Tcn2 transcobalamin 2 gene DOID:9296 cleft lip ISO RGD:1347590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470748 620681 Tcn2 transcobalamin 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347590 D RGD:11059889|PMID:8754152 20160418 RGD protein:altered activity:plasma: 620682 Tfam transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:7240710 20190315 OMIM 620682 Tfam transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) PMID:25741868|PMID:27448789|PMID:28492532 620682 Tfam transcription factor A, mitochondrial gene DOID:0080855 Parkinsonism ISO RGD:733567 D RGD:6484267|PMID:22040668 20120713 RGD mRNA:increased expression:striatum 620682 Tfam transcription factor A, mitochondrial gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1605718 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 620682 Tfam transcription factor A, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605718 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 620682 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 620682 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:6767575|PMID:21799244 20120713 RGD DNA:SNP: :rs1937 (human) 620682 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1605718 D RGD:6771185|PMID:17537576 20120716 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) 620682 Tfam transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:1605718 D RGD:6770890|PMID:21595933 20120713 RGD 620682 Tfam transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:733567 D RGD:6771173|PMID:20529956 20120713 RGD mRNA:decreased expression:striatum 620682 Tfam transcription factor A, mitochondrial gene DOID:12934 Kearns-Sayre syndrome ISS RGD:733567 D RGD:13592920 20180518 MouseDO OMIM:530000 620682 Tfam transcription factor A, mitochondrial gene DOID:13548 secondary Parkinson disease ISO RGD:1605718 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 620682 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease ISS RGD:733567 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 620682 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:6771184|PMID:18248889 20120716 RGD DNA:missense mutation:exon:p.S12T (rs1937) (human) 620682 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:6771185|PMID:17537576 20120716 RGD DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) 620682 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1605718 D RGD:14389730|PMID:19925850 20120711 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) 620682 Tfam transcription factor A, mitochondrial gene DOID:1824 status epilepticus IEP D RGD:6767574|PMID:21854834 20120713 RGD 620682 Tfam transcription factor A, mitochondrial gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605718 D RGD:6767572|PMID:22354563 20120713 RGD 620682 Tfam transcription factor A, mitochondrial gene DOID:630 genetic disease ISO RGD:1605718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620682 Tfam transcription factor A, mitochondrial gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1605718 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form PMID:27448789 620682 Tfam transcription factor A, mitochondrial gene DOID:9001708 Hemorrhagic Shock IEP D RGD:6767567|PMID:22469910 20120711 RGD 620682 Tfam transcription factor A, mitochondrial gene DOID:9002906 Multiple Organ Failure ISO RGD:1605718 D RGD:6771188|PMID:18997871 20120717 RGD associated with Sepsis;protein:increased expression:skeletal muscle 620682 Tfam transcription factor A, mitochondrial gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2302400|PMID:18723421 20120716 RGD mRNA:increased expression:cerebral cortex 620682 Tfam transcription factor A, mitochondrial gene DOID:9004009 Reperfusion Injury IDA D RGD:6767573|PMID:22266265 20120713 RGD 620682 Tfam transcription factor A, mitochondrial gene DOID:9005372 Inflammation IDA D RGD:6767567|PMID:22469910 20120711 RGD 620682 Tfam transcription factor A, mitochondrial gene DOID:9006205 Animal Disease Models ISO RGD:1605718 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 620682 Tfam transcription factor A, mitochondrial gene DOID:9007170 Bowen's Disease ISO RGD:1605718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 620682 Tfam transcription factor A, mitochondrial gene DOID:9007346 Cachexia ISO RGD:1605718 D RGD:5683621|PMID:17459894 20111129 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle (human) 620682 Tfam transcription factor A, mitochondrial gene DOID:9970 obesity ISO RGD:1605718 D RGD:5683906|PMID:21862610 20120717 RGD 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:0050777 Joubert syndrome ISO RGD:731644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731644 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:10763 hypertension ISO RGD:731644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:12236 primary biliary cholangitis IEP D RGD:1642977|PMID:15769867 20071116 RGD protein:increased expression, increased phosphorylation:liver 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:12930 dilated cardiomyopathy IEP D RGD:1643022|PMID:16043946 20071127 RGD protein:increased activity:heart 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:2018 hyperinsulinism IEP D RGD:1643026|PMID:15692808 20071127 RGD protein:increased phosphorylation:liver, skeletal muscle 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:5844 myocardial infarction IEP D RGD:1642998|PMID:16540832 20071116 RGD protein:increased threonine phosphorylation:heart left ventricle 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:630 genetic disease ISO RGD:731644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:767 muscular atrophy IEP D RGD:1642984|PMID:17885021 20071116 RGD protein:decreased expression, decreased phosphorylation:soleus 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:898 autosomal dominant polycystic kidney disease IEP D RGD:1643017|PMID:16221708 20071127 RGD protein:increased expression, increased activity:kidney 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9002513 Hypoproteinemia IDA D RGD:1643028|PMID:16169275 20071129 RGD associated with Liver Cirrhosis, Experimental 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9003936 Cardiomegaly IEP D RGD:1642998|PMID:16540832 20071116 RGD protein:increased threonine phosphorylation:heart left ventricle 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9004462 Atrophy ISO RGD:731644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9007730 Burns IEP D RGD:1643025|PMID:14695116 20071127 RGD protein:decreased phosphorylation:heart 620683 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9970 obesity IEP D RGD:1642978|PMID:15604215 20071116 RGD protein:increased phosphorylation:skeletal muscle 620684 Synrg synergin, gamma gene DOID:0060041 autism spectrum disorder ISO RGD:1348030 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 620684 Synrg synergin, gamma gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1348030 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 620684 Synrg synergin, gamma gene DOID:12849 autistic disorder ISO RGD:1348030 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620684 Synrg synergin, gamma gene DOID:5419 schizophrenia ISO RGD:1348030 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620684 Synrg synergin, gamma gene DOID:630 genetic disease ISO RGD:1348030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620684 Synrg synergin, gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348030 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620684 Synrg synergin, gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348030 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620684 Synrg synergin, gamma gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1348030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 620685 Aatf apoptosis antagonizing transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:734398 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 620685 Aatf apoptosis antagonizing transcription factor gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:734398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 620685 Aatf apoptosis antagonizing transcription factor gene DOID:12849 autistic disorder ISO RGD:734398 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620685 Aatf apoptosis antagonizing transcription factor gene DOID:5419 schizophrenia ISO RGD:734398 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620685 Aatf apoptosis antagonizing transcription factor gene DOID:630 genetic disease ISO RGD:734398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620685 Aatf apoptosis antagonizing transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734398 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620685 Aatf apoptosis antagonizing transcription factor gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:734398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 620686 Des desmin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1347887 D RGD:13525009|PMID:29212896 20180507 RGD DNA:mutation:cds:c.1203G>C (p.E401D)(human) 620686 Des desmin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10717012|PMID:10905661|PMID:14991347|PMID:15050448|PMID:21262226|PMID:22153487|PMID:23425003|PMID:23575897|PMID:24033266|PMID:25179549|PMID:25741868|PMID:27532257|PMID:27854218|PMID:28492532|PMID:31718026|PMID:33023321 620686 Des desmin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1551179 D RGD:265253172|PMID:27412010 20230418 RGD protein:decreased expression:cardiac ventricle (mouse) 620686 Des desmin gene DOID:0050700 cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10430757|PMID:10717012|PMID:10905661|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18653338|PMID:19181099|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23425003|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:26265630|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27532257|PMID:27697855|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30323756|PMID:30615648|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31371504|PMID:31718026|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32268277|PMID:32403337|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33662488|PMID:34426522|PMID:9536098 620686 Des desmin gene DOID:0050700 cardiomyopathy ISS RGD:1551179 D RGD:13592920 20180518 MouseDO 620686 Des desmin gene DOID:0060224 atrial fibrillation ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20137276 620686 Des desmin gene DOID:0080000 muscular disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 620686 Des desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:20718792|PMID:30055862 620686 Des desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:13542086|PMID:28341603 20180508 RGD protein:altered expression:cardiomyocyte: 620686 Des desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:7240710 20160413 OMIM 620686 Des desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 PMID:10430757|PMID:10545598|PMID:10717012|PMID:10905661|PMID:10970245|PMID:11061256|PMID:11073539|PMID:11310634|PMID:11668632|PMID:11728149|PMID:12410397|PMID:12609507|PMID:12620971|PMID:12766977|PMID:14326018|PMID:14648196|PMID:14711882|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:15759133|PMID:15800015|PMID:16009553|PMID:16199547|PMID:16217025|PMID:16376610|PMID:16449718|PMID:16519886|PMID:16806931|PMID:16828798|PMID:16865695|PMID:16890305|PMID:17105773|PMID:17188893|PMID:17221859|PMID:17325244|PMID:17418574|PMID:17439987|PMID:17576681|PMID:17626518|PMID:17720647|PMID:18061454|PMID:18414213|PMID:18504128|PMID:18539904|PMID:18563598|PMID:18653338|PMID:18765652|PMID:19005210|PMID:19105189|PMID:19151983|PMID:19181099|PMID:19433360|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20301672|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20829228|PMID:20981092|PMID:21135508|PMID:21262226|PMID:21520333|PMID:21676617|PMID:21842594|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22395865|PMID:22403400|PMID:22484823|PMID:23032110|PMID:23051780|PMID:23143191|PMID:23155419|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23349452|PMID:23396983|PMID:23425003|PMID:23575897|PMID:23639843|PMID:23687351|PMID:23785128|PMID:23806086|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24441330|PMID:24503780|PMID:25163546|PMID:25171807|PMID:25179549|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26097489|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26633545|PMID:26676851|PMID:26724190|PMID:26789769|PMID:27393313|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27697855|PMID:27733623|PMID:27810088|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28171858|PMID:28256728|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28566242|PMID:28588093|PMID:28611029|PMID:28703267|PMID:28798025|PMID:29034897|PMID:29212896|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29892087|PMID:29915097|PMID:29915714|PMID:29926427|PMID:29997562|PMID:30023281|PMID:30055862|PMID:30062237|PMID:30190612|PMID:30323756|PMID:30403391|PMID:30531895|PMID:30614851|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:30975432|PMID:31371504|PMID:31609036|PMID:31718026|PMID:31835587|PMID:31912959|PMID:31953240|PMID:31983221|PMID:31998224|PMID:32093415|PMID:32105824|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33290826|PMID:33373648|PMID:33505848|PMID:33546848|PMID:33652119|PMID:33662488|PMID:33673806|PMID:33874732|PMID:34011823|PMID:34315782|PMID:34426522|PMID:36497166|PMID:5828910|PMID:7672786|PMID:8114783|PMID:9382102|PMID:9536098|PMID:9697706|PMID:9736733 620686 Des desmin gene DOID:0080307 myofibrillar myopathy ISO RGD:1347887 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:20718792|PMID:30055862 620686 Des desmin gene DOID:0080307 myofibrillar myopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:10905661|PMID:14711882|PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17626518|PMID:18414213|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22215463|PMID:22337857|PMID:23051780|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26467025|PMID:27618136|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29892087|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32150461|PMID:32880476|PMID:33652119 620686 Des desmin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 620686 Des desmin gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 620686 Des desmin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1347887 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 620686 Des desmin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 620686 Des desmin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1347887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:30847666 620686 Des desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:7240710 20130425 OMIM 620686 Des desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19105189|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31019283|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:33662488|PMID:34011823|PMID:34426522|PMID:36497166|PMID:9536098|PMID:9697706 620686 Des desmin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:19587455|PMID:19716701|PMID:20696008|PMID:22153487|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25590979|PMID:28492532|PMID:33874732 620686 Des desmin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:29253866 620686 Des desmin gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:1347887 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 620686 Des desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:7240710 20130221 OMIM 620686 Des desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14326018|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28171858|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31953240|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:34011823|PMID:34426522|PMID:36497166|PMID:5828910|PMID:9697706 620686 Des desmin gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 620686 Des desmin gene DOID:11372 megacolon ISO RGD:1347887 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620686 Des desmin gene DOID:1148 polydactyly ISO RGD:1347887 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 620686 Des desmin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1347887 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:23687351|PMID:30055862 620686 Des desmin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1551179 D RGD:13525010|PMID:10591032 20180507 RGD 620686 Des desmin gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 620686 Des desmin gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 620686 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:13542087|PMID:29556622 20180508 RGD protein:altered expression:cardiomyocyte: 620686 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:13592594|PMID:28171858 20180509 RGD DNA:mutation:cds:c.679C>T(p.R227C)(human) 620686 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:34426522|PMID:9382102 620686 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23575897|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26097489|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:33874732|PMID:34426522|PMID:9382102|PMID:9536098 620686 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1551179 D RGD:13525010|PMID:10591032 20180507 RGD 620686 Des desmin gene DOID:2527 nephrosis ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 620686 Des desmin gene DOID:2921 glomerulonephritis ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 620686 Des desmin gene DOID:305 carcinoma ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620686 Des desmin gene DOID:3082 interstitial lung disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 620686 Des desmin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347887 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27651373 620686 Des desmin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347887 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17325244|PMID:17626518|PMID:20474083|PMID:21842594|PMID:22215463|PMID:23143191|PMID:23168288|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532 620686 Des desmin gene DOID:397 restrictive cardiomyopathy ISO RGD:1347887 D RGD:1580290|PMID:11298680 19990101 RGD 620686 Des desmin gene DOID:423 myopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 620686 Des desmin gene DOID:440 neuromuscular disease ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 620686 Des desmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 620686 Des desmin gene DOID:630 genetic disease ISO RGD:1347887 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620686 Des desmin gene DOID:9000217 Stomach Neoplasms ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 620686 Des desmin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620686 Des desmin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:27697855|PMID:27930701|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32880476 620686 Des desmin gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 620686 Des desmin gene DOID:9002231 Fetal Growth Retardation ISO RGD:1347887 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 620686 Des desmin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347887 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620686 Des desmin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620686 Des desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532 620686 Des desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 620686 Des desmin gene DOID:9005605 Arteriovenous Fistula IEP D RGD:13525010|PMID:10591032 20180507 RGD 620686 Des desmin gene DOID:9008939 Breast Neoplasms ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 620686 Des desmin gene DOID:9279 hyperhomocysteinemia ISO RGD:1347887 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 620686 Des desmin gene DOID:988 mitral valve prolapse ISO RGD:1347887 D RGD:13542088|PMID:27464577 20180508 RGD protein:altered expression:;eft ventricule 620687 Pygl glycogen phosphorylase L gene DOID:2747 glycogen storage disease ISO RGD:731803 D RGD:1599374|PMID:9536091 20070131 RGD 620687 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI IAGP D RGD:11071447|PMID:17705025 20200219 RGD DNA:mutation:multiple 620687 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI IAGP D RGD:21079734|PMID:21646031 20200219 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple 620687 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9529348|PMID:9536091 620687 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:7240710 20130221 OMIM 620687 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:12809646|PMID:16199547|PMID:17576681|PMID:17705025|PMID:20301760|PMID:21646031|PMID:22899091|PMID:24033266|PMID:25266922|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31508908|PMID:31768638|PMID:32268899|PMID:32892177|PMID:32961316|PMID:33763395|PMID:9529348|PMID:9536091|PMID:9536098 620687 Pygl glycogen phosphorylase L gene DOID:3650 lactic acidosis IAGP D RGD:11071447|PMID:17705025 20200219 RGD DNA:mutation:multiple 620687 Pygl glycogen phosphorylase L gene DOID:630 genetic disease ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620687 Pygl glycogen phosphorylase L gene DOID:684 hepatocellular carcinoma ISO RGD:731803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2885971 620687 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly IAGP D RGD:11071447|PMID:17705025 20200219 RGD associated with glycogen storage disease VI;DNA:mutation:multiple 620687 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly IAGP D RGD:21079734|PMID:21646031 20200219 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple 620687 Pygl glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:21079733|PMID:25336395 20200219 RGD protein:increased expression:serum (rat) 620687 Pygl glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0050438 Frasier syndrome ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:25741868|PMID:28492532 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28166811|PMID:28488083|PMID:28492532|PMID:30351409|PMID:30986657 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:30351409|PMID:34055682|PMID:9536098 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:7240710 20170315 OMIM 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 24 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 PMID:24747641|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30351409|PMID:33822003 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:25741868 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747641 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations IEP D RGD:9686432|PMID:20618401 20150209 RGD protein:decreased expression:neocortex: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:7240710 20190710 OMIM 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29936235|PMID:30351409 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:30351409|PMID:34055682|PMID:9536098 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:1059 intellectual disability ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:11832 visual epilepsy IEP D RGD:9686135|PMID:17988239 20150203 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:13884 sick sinus syndrome ISS RGD:733931 D RGD:13592920 20180518 MouseDO OMIM:163800 | OMIM:608567 | OMIM:614090 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:1824 status epilepticus IEP D RGD:9686365|PMID:21976514 20150204 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:1825 childhood absence epilepsy IEP D RGD:9686420|PMID:15182313 20150206 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:1826 epilepsy ISO RGD:733930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12890777 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:1826 epilepsy ISO RGD:733930 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:2030 anxiety disorder IMP D RGD:9686419|PMID:22884333 20150206 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:3324 mood disorder IMP D RGD:9686419|PMID:22884333 20150206 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:9686145|PMID:12890777 20150203 RGD mRNA:increased expression:hippocampus: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:9686146|PMID:21905079 20150203 RGD protein:decreased expression:hippocampus: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733930 D RGD:9686145|PMID:12890777 20150203 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:630 genetic disease ISO RGD:733930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:27864847|PMID:28488083|PMID:28492532 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:9686397|PMID:22378889 20150206 RGD mRNA,protein:decreased expression:hippocampus: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9000495 Tremor IAGP D RGD:11060746|PMID:25970616 20180103 RGD DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9000930 Dental Pulp Exposure IEP D RGD:9686147|PMID:17645513 20150203 RGD protein:increased expression:neuron: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9000998 Brain Injuries IEP D RGD:9686434|PMID:11726545 20150209 RGD mRNA,protein:decreased expression:hippocampus: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:733930 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:30351409 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9686395|PMID:19892002 20150205 RGD mRNA:decreased expression:hippocampus,cortex: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733930 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9004866 Ataxia ISO RGD:733930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9693680|PMID:19815055 20150210 RGD protein:increased expression:neuron: 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9006205 Animal Disease Models ISO RGD:733930 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9007956 Febrile Seizures IEP D RGD:9686385|PMID:15837575 20150205 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:9686415|PMID:24838625 20150206 RGD 620688 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene DOID:9471 meningitis IEP D RGD:2316615|PMID:19409968 20150209 RGD protein:increased expression:neuron: 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732305 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:25741868 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:7240710 20210915 OMIM 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 2 PMID:22131395|PMID:24324597|PMID:25741868|PMID:29064616 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:11832 visual epilepsy IEP D RGD:9686135|PMID:17988239 20150203 RGD 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:1826 epilepsy ISO RGD:732305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:2723 dermatitis IEP D RGD:9686396|PMID:23236374 20150205 RGD protein:increased expression:dorsal root ganglion: 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:630 genetic disease ISO RGD:732305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9000930 Dental Pulp Exposure IEP D RGD:9686147|PMID:17645513 20150203 RGD protein:increased expression:neuron: 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732305 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9693689|PMID:19471099 20150211 RGD mRNA,protein:increased expression:myocyte: 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9693680|PMID:19815055 20150210 RGD protein:increased expression:neuron: 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007956 Febrile Seizures IEP D RGD:9686385|PMID:15837575 20150205 RGD 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:9686415|PMID:24838625 20150206 RGD 620689 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9471 meningitis IEP D RGD:2316615|PMID:19409968 20150209 RGD protein:increased expression:neuron: 62069 Rpl29 ribosomal protein L29 gene DOID:630 genetic disease ISO RGD:737093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:0050773 paraganglioma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:153323319|PMID:18621506 20220814 RGD protein:increased expression:tongue (human) 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347209 D RGD:152999012|PMID:20967871 20220716 RGD protein:increased expression:oral cavity (human) 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:1059 intellectual disability ISO RGD:1347209 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:1240 leukemia ISO RGD:1347209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1347209 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:1612 breast cancer ISO RGD:1347209 D RGD:1643528|PMID:12218061 20080111 RGD 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:1996 rectum adenocarcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:3275 thymoma ameliorates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1347209 D RGD:1643529|PMID:12208731 20080111 RGD DNA, protein:amplification, increased expression:uterine cervix, nucleus 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1347209 D RGD:152998985|PMID:27737687 20220714 RGD protein:increased expression:lung (human) 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:4362 cervical cancer ISO RGD:1347209 D RGD:1643527|PMID:16504151 20080111 RGD mRNA:decreased expression:uterine cervix 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347209 D RGD:1643526|PMID:17154176 20080111 RGD mRNA:altered expression:kidney 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:630 genetic disease ISO RGD:1347209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:769 neuroblastoma ISO RGD:1347209 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:8923 skin melanoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347209 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:9002846 bowenoid papulosis ISO RGD:1347209 D RGD:152998971|PMID:20346172 20220713 RGD mRNA:increased expression:perianal skin (human) 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347209 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 620690 Birc2 baculoviral IAP repeat-containing 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1347209 D RGD:153344527|PMID:27827395 20220822 RGD mRNA:decreased expression:colonic mucosa (human) 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:1605973 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:14330 Parkinson's disease IEP D RGD:9693679|PMID:19320057 20150210 RGD mRNA:increased expression:neuron: 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605973 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:630 genetic disease ISO RGD:1605973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:9000930 Dental Pulp Exposure IEP D RGD:9686147|PMID:17645513 20150203 RGD protein:increased expression:neuron: 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9693680|PMID:19815055 20150210 RGD protein:increased expression:neuron: 620691 Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605973 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0050117 disease by infectious agent ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353417 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1353417 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder PMID:25741868|PMID:28492532 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868|PMID:28492532 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:7240710 20131030 OMIM 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:1543760|PMID:16199547|PMID:17080092|PMID:17576681|PMID:17989220|PMID:18068526|PMID:20015872|PMID:20517649|PMID:21119115|PMID:21173700|PMID:21281876|PMID:21543760|PMID:21674762|PMID:22228567|PMID:23131490|PMID:23818254|PMID:23944711|PMID:23973892|PMID:24033266|PMID:24084330|PMID:24616127|PMID:25640679|PMID:25666262|PMID:25741868|PMID:25801017|PMID:25943627|PMID:26581487|PMID:27317434|PMID:27537055|PMID:27747465|PMID:27815752|PMID:28492532|PMID:28936583|PMID:29312354|PMID:29501442|PMID:29665027|PMID:30755392|PMID:32542393|PMID:9536098 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:25741868 620692 Xiap X-linked inhibitor of apoptosis gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353417 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620692 Xiap X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer ISO RGD:1353417 D RGD:2315849|PMID:19415464 20100113 RGD 620692 Xiap X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer disease_progression ISO RGD:1353417 D RGD:2315852|PMID:17947468 20100113 RGD protein:increased expression:prostate gland 620692 Xiap X-linked inhibitor of apoptosis gene DOID:12849 autistic disorder ISO RGD:1353417 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620692 Xiap X-linked inhibitor of apoptosis gene DOID:1612 breast cancer ISO RGD:1353417 D RGD:2315848|PMID:19563669 20100113 RGD protein:increased expression:breast 620692 Xiap X-linked inhibitor of apoptosis gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:20517649|PMID:21119115|PMID:23944711|PMID:24033266|PMID:24616127|PMID:25741868|PMID:27537055|PMID:28492532 620692 Xiap X-linked inhibitor of apoptosis gene DOID:3007 breast ductal carcinoma severity ISO RGD:1353417 D RGD:2315853|PMID:17350670 20100113 RGD 620692 Xiap X-linked inhibitor of apoptosis gene DOID:3459 breast carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 620692 Xiap X-linked inhibitor of apoptosis gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 620692 Xiap X-linked inhibitor of apoptosis gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 620692 Xiap X-linked inhibitor of apoptosis gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1353417 D RGD:2315854|PMID:17332931 20100113 RGD protein:increased expression:kidney 620692 Xiap X-linked inhibitor of apoptosis gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 620692 Xiap X-linked inhibitor of apoptosis gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 620692 Xiap X-linked inhibitor of apoptosis gene DOID:630 genetic disease ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620692 Xiap X-linked inhibitor of apoptosis gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1353417 D RGD:153344528|PMID:17253596 20220822 RGD mRNA:increased expression:pleura, lung (human) 620692 Xiap X-linked inhibitor of apoptosis gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1353417 D RGD:2315850|PMID:18325467 20100113 RGD protein:increased expression:uterine cervix 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353417 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17611394 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731857 D RGD:2315851|PMID:18259199 20100113 RGD 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:2315847|PMID:19758744 20100113 RGD 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1353417 D RGD:2315850|PMID:18325467 20100113 RGD protein:increased expression:uterine cervix 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9003566 Mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353417 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9004484 Sepsis ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sepsis PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353417 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12766084 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353417 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 620692 Xiap X-linked inhibitor of apoptosis gene DOID:9256 colorectal cancer ISO RGD:1353417 D RGD:153344527|PMID:27827395 20220822 RGD mRNA, protein:increased expression:colonic mucosa (human) 620693 Nxph3 neurexophilin 3 gene DOID:630 genetic disease ISO RGD:735663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620694 Smu1 SMU1, DNA replication regulator and spliceosomal factor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 620694 Smu1 SMU1, DNA replication regulator and spliceosomal factor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 620694 Smu1 SMU1, DNA replication regulator and spliceosomal factor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 620694 Smu1 SMU1, DNA replication regulator and spliceosomal factor gene DOID:630 genetic disease ISO RGD:1343755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620694 Smu1 SMU1, DNA replication regulator and spliceosomal factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620694 Smu1 SMU1, DNA replication regulator and spliceosomal factor gene DOID:9870 galactosemia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 620695 Vegfd vascular endothelial growth factor D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731830 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620695 Vegfd vascular endothelial growth factor D gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 620695 Vegfd vascular endothelial growth factor D gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731830 D RGD:2315479|PMID:17970053 20091223 RGD 620695 Vegfd vascular endothelial growth factor D gene DOID:12849 autistic disorder ISO RGD:731830 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620695 Vegfd vascular endothelial growth factor D gene DOID:13636 Fanconi anemia ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 620695 Vegfd vascular endothelial growth factor D gene DOID:3319 lymphangioleiomyomatosis ISO RGD:731830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 620695 Vegfd vascular endothelial growth factor D gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:731830 D RGD:155630646|PMID:21410412 20221026 RGD protein:increased expression:blood serum (human) 620695 Vegfd vascular endothelial growth factor D gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731830 D RGD:2315478|PMID:18343598 20091223 RGD 620695 Vegfd vascular endothelial growth factor D gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:731830 D RGD:155630646|PMID:21410412 20221026 RGD protein:increased expression:blood serum (human) 620695 Vegfd vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:2315475|PMID:19589137 20091223 RGD associated with Cervix Neoplasms 620695 Vegfd vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:2315480|PMID:17951197 20091223 RGD associated with Breast Neoplasms 620695 Vegfd vascular endothelial growth factor D gene DOID:9004009 Reperfusion Injury ISO RGD:731830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 620695 Vegfd vascular endothelial growth factor D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731830 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342489 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24998929|PMID:28191889|PMID:30670789 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23160955|PMID:25741868|PMID:28492532|PMID:30504930 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0060261 congenital ptosis ISO RGD:1342489 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital ptosis PMID:25741868|PMID:32267004 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1342489 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 PMID:25741868 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1342489 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:1059 intellectual disability ISO RGD:1342489 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30670789 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:1059 intellectual disability ISO RGD:1342489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:12849 autistic disorder ISO RGD:1342489 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:25961944|PMID:35982159 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:12849 autistic disorder ISO RGD:1342489 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: CHD8-Related Disorder | ClinVar Annotator: match by term: CHD8-Related Disorders PMID:25741868 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:630 genetic disease ISO RGD:1342489 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25741868|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31130284|PMID:31311581|PMID:31721432|PMID:32309624|PMID:32801363|PMID:32951261|PMID:33004838|PMID:33352116|PMID:9536098 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:77 gastrointestinal system disease ISO RGD:1342489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24998929 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:7240710 20220518 OMIM 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 18 PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326635|PMID:25326637|PMID:25363760|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29389947|PMID:30504930|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:34906502 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9001487 Facies ISO RGD:1342489 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30670789 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9003816 Macrocephaly ISO RGD:1342489 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24998929|PMID:30670789 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9003816 Macrocephaly ISO RGD:1342489 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:32267004 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342489 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23160955|PMID:25741868 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1342489 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 620696 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9008582 Developmental Disease ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620697 Elf1 E74 like ETS transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:734281 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620697 Elf1 E74 like ETS transcription factor 1 gene DOID:630 genetic disease ISO RGD:734281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620698 Zyx zyxin gene DOID:630 genetic disease ISO RGD:1347879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620698 Zyx zyxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347879 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:30697742 620699 Rhbdl1 rhomboid like 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 620699 Rhbdl1 rhomboid like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 620699 Rhbdl1 rhomboid like 1 gene DOID:1826 epilepsy ISO RGD:1347230 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 620699 Rhbdl1 rhomboid like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347230 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:731412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:14749 methylmalonic acidemia ISO RGD:731412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731412 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:731412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731412 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:9002801 Recurrence ISO RGD:731412 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8400267 62070 Crabp2 cellular retinoic acid binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731412 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10283 prostate cancer ISO RGD:1354477 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1354477 D RGD:1358749|PMID:11425005 19990101 RGD 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis IDA D RGD:1641936|PMID:7723231 20070824 RGD 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis IEP D RGD:1641937|PMID:7778686 20070824 RGD mRNA, protein:increased expression:glomerulus, epithelial cell 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354477 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:1307 dementia susceptibility ISO RGD:1354477 D RGD:10412053|PMID:18721259 20151113 RGD DNA:insertion,deletion:intron: 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354477 D RGD:1581922|PMID:12394648 20061030 RGD 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:630 genetic disease ISO RGD:1354477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:7240710 20150708 OMIM 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia PMID:23830514|PMID:24033266|PMID:25525168|PMID:25741868|PMID:26271838 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9004332 Osteoarthritis, Experimental IEP D RGD:10412054|PMID:24754147 20151113 RGD mRNA:decreased expression:knee 620700 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354477 D RGD:1581921|PMID:14557872 20070824 RGD associated with Coronary Disease;DNA:SNP:exon 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730905 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:12849 autistic disorder ISO RGD:730905 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:630 genetic disease ISO RGD:730905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620702 Slc38a5 solute carrier family 38, member 5 gene DOID:9005930 Endotoxemia IEP D RGD:9999227|PMID:20036385 20150414 RGD 620705 Homer2 homer scaffold protein 2 gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:7240710 20160113 OMIM 620705 Homer2 homer scaffold protein 2 gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 68 PMID:25741868|PMID:25816005|PMID:30047143 620705 Homer2 homer scaffold protein 2 gene DOID:13938 amenorrhea ISO RGD:1354175 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620705 Homer2 homer scaffold protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1354175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620705 Homer2 homer scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1354175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620705 Homer2 homer scaffold protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15545022 620705 Homer2 homer scaffold protein 2 gene DOID:9256 colorectal cancer ISO RGD:1354175 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620706 Homer3 homer scaffold protein 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:731655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 620706 Homer3 homer scaffold protein 3 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:731655 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 620706 Homer3 homer scaffold protein 3 gene DOID:10126 keratoconus ISO RGD:731655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 620706 Homer3 homer scaffold protein 3 gene DOID:630 genetic disease ISO RGD:731655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620706 Homer3 homer scaffold protein 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 620706 Homer3 homer scaffold protein 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 620707 Tff1 trefoil factor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1344671 D RGD:2292005|PMID:15375487 20080408 RGD 620707 Tff1 trefoil factor 1 gene DOID:0060180 colitis IEP D RGD:625375|PMID:8836141 20080408 RGD 620707 Tff1 trefoil factor 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:1344671 D RGD:2298572|PMID:9221798 20080711 RGD protein:increased expression:endometrium 620707 Tff1 trefoil factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 620707 Tff1 trefoil factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 620707 Tff1 trefoil factor 1 gene DOID:10283 prostate cancer ISO RGD:1344671 D RGD:2298571|PMID:10458410 20080711 RGD mRNA:increased expression:prostate gland 620707 Tff1 trefoil factor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1344671 D RGD:2291999|PMID:16467092 20080408 RGD protein:increased expression:plasma 620707 Tff1 trefoil factor 1 gene DOID:10534 stomach cancer ISS RGD:732017 D RGD:13592920 20180518 MouseDO OMIM:137215 | OMIM:613659 620707 Tff1 trefoil factor 1 gene DOID:10608 celiac disease ISO RGD:1344671 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 620707 Tff1 trefoil factor 1 gene DOID:10808 gastric ulcer IEP D RGD:2292012|PMID:11350545 20080408 RGD mRNA, protein:increased expression:stomach mucosa 620707 Tff1 trefoil factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344671 D RGD:2291996|PMID:18283638 20080711 RGD protein:increased expression:urinary bladder 620707 Tff1 trefoil factor 1 gene DOID:1380 endometrial cancer ISO RGD:1344671 D RGD:2298569|PMID:10835496 20080711 RGD mRNA, protein:increased expression:endometrium 620707 Tff1 trefoil factor 1 gene DOID:2394 ovarian cancer ISO RGD:1344671 D RGD:2292003|PMID:17624412 20080408 RGD 620707 Tff1 trefoil factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1344671 D RGD:2298573|PMID:7965392 20080711 RGD protein:increased expression:urinary bladder urothelium 620707 Tff1 trefoil factor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1344671 D RGD:2298572|PMID:9221798 20080711 RGD protein:increased expression:endometrium 620707 Tff1 trefoil factor 1 gene DOID:3493 signet ring cell adenocarcinoma ISO RGD:1344671 D RGD:2291996|PMID:18283638 20080408 RGD protein:increased expression:urinary bladder 620707 Tff1 trefoil factor 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1344671 D RGD:2298570|PMID:10727981 20080711 RGD mRNA, protein:increased expression:uterine cervix 620707 Tff1 trefoil factor 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344671 D RGD:2292004|PMID:9066601 20080408 RGD 620707 Tff1 trefoil factor 1 gene DOID:630 genetic disease ISO RGD:1344671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620707 Tff1 trefoil factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 620707 Tff1 trefoil factor 1 gene DOID:9001295 Achlorhydria IEP D RGD:2292010|PMID:11903739 20080408 RGD protein:increased secretion:stomach 620707 Tff1 trefoil factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 620707 Tff1 trefoil factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 620707 Tff1 trefoil factor 1 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:732017 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 620707 Tff1 trefoil factor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1344671 D RGD:2292002|PMID:16267614 20080408 RGD protein:increased expression:breast 620707 Tff1 trefoil factor 1 gene DOID:9263 homocystinuria ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 620707 Tff1 trefoil factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620708 Cklf chemokine-like factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 620708 Cklf chemokine-like factor gene DOID:0110255 cataract 5 multiple types ISO RGD:1606001 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 620708 Cklf chemokine-like factor gene DOID:630 genetic disease ISO RGD:1606001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620708 Cklf chemokine-like factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606001 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620709 Tff2 trefoil factor 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 620709 Tff2 trefoil factor 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 620709 Tff2 trefoil factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:731368 D RGD:2291999|PMID:16467092 20080408 RGD protein:increased expression:plasma 620709 Tff2 trefoil factor 2 gene DOID:630 genetic disease ISO RGD:731368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620709 Tff2 trefoil factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 620709 Tff2 trefoil factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 620709 Tff2 trefoil factor 2 gene DOID:9006535 Hookworm Infections ISO RGD:731369 D RGD:39938827|PMID:22329990 20201013 RGD 620709 Tff2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections ISO RGD:731368 D RGD:7364760|PMID:15280409 20130926 RGD protein:increased expression:stomach epithelium 620709 Tff2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:731369 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 620709 Tff2 trefoil factor 2 gene DOID:9263 homocystinuria ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 620709 Tff2 trefoil factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 62071 Gap43 growth associated protein 43 gene DOID:11832 visual epilepsy IEP D RGD:9685329|PMID:11054811 20150325 RGD 62071 Gap43 growth associated protein 43 gene DOID:1824 status epilepticus ISO RGD:730980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10366005 62071 Gap43 growth associated protein 43 gene DOID:630 genetic disease ISO RGD:730980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62071 Gap43 growth associated protein 43 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:40924652|PMID:24968269 20210118 RGD 62071 Gap43 growth associated protein 43 gene DOID:9002928 Colonic Neoplasms ISO RGD:730980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:733575 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:1059 intellectual disability ISO RGD:733575 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:10591 pre-eclampsia disease_progression ISO RGD:733575 D RGD:155260325|PMID:27746364 20220930 RGD mRNA:decreased expression:placenta (human) 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733575 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:20473312 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:630 genetic disease ISO RGD:733575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:733575 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 620710 Ptpn2 protein tyrosine phosphatase, non-receptor type 2 gene DOID:8778 Crohn's disease ISO RGD:733575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17554261 620711 Dhh desert hedgehog signaling molecule gene DOID:0111774 46,XY sex reversal 7 ISO RGD:1345874 D RGD:7240710 20130425 OMIM 620711 Dhh desert hedgehog signaling molecule gene DOID:0111774 46,XY sex reversal 7 ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 7 PMID:15356051|PMID:25741868|PMID:28492532|PMID:30298535 620711 Dhh desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal ISO RGD:1345874 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD 620711 Dhh desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal ISS RGD:1552726 D RGD:13592920 20180518 MouseDO OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067 620711 Dhh desert hedgehog signaling molecule gene DOID:14448 46,XY sex reversal susceptibility ISO RGD:1345874 D RGD:1601053|PMID:11017805 20070404 RGD DNA:missense mutation:exon 620711 Dhh desert hedgehog signaling molecule gene DOID:1923 disorder of sexual development ISO RGD:1345874 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 620711 Dhh desert hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1345874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620711 Dhh desert hedgehog signaling molecule gene DOID:9006824 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ISO RGD:1345874 D RGD:7240710 20130221 OMIM 620711 Dhh desert hedgehog signaling molecule gene DOID:9006824 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy ISO RGD:1345874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy PMID:11017805|PMID:11891836|PMID:25927242|PMID:28589169|PMID:28708305|PMID:29471294 620712 Ptpn4 protein tyrosine phosphatase, non-receptor type 4 gene DOID:1059 intellectual disability ISO RGD:1316480 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620712 Ptpn4 protein tyrosine phosphatase, non-receptor type 4 gene DOID:12849 autistic disorder ISO RGD:1316480 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 620712 Ptpn4 protein tyrosine phosphatase, non-receptor type 4 gene DOID:630 genetic disease ISO RGD:1316480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620712 Ptpn4 protein tyrosine phosphatase, non-receptor type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34527963 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0050852 limb ischemia treatment IEP D RGD:11568031|PMID:25388665 20161206 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0050902 medulloblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0060321 umbilical hernia ISO RGD:732291 D RGD:11567270|PMID:21238647 20161205 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:732290 D RGD:11352668|PMID:15050920 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:11352667|PMID:12969958 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21936542|PMID:22875613 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm treatment ISO RGD:732290 D RGD:11352309|PMID:15448205 20160713 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732290 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:732291 D RGD:25330354|PMID:32195457 20200408 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:732290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732290 D RGD:11352666|PMID:19506298 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:11567242|PMID:16606836 20161202 RGD DNA:missense mutations, nonsense mutation:exon:multiple 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:11567244|PMID:20079901 20161202 RGD DNA:deletion:intron:c.2049-1G>C (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:11567246|PMID:17200176 20161202 RGD DNA:nonsense mutation:exon:pR622X (1864C>T) (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:11567265|PMID:17235395 20161205 RGD DNA:missense mutations:exon:p.L342S (c.1025T>C), p.R470L (c.1409G>T) (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:12627230|PMID:16882753|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:7240710 20171213 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:10629055|PMID:10690855|PMID:10861678|PMID:10942429|PMID:11173846|PMID:12627230|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15365636|PMID:15605412|PMID:15625620|PMID:15793702|PMID:16199547|PMID:16418210|PMID:16470795|PMID:16606836|PMID:16757108|PMID:16764984|PMID:16882753|PMID:16957473|PMID:17154279|PMID:17200176|PMID:17235395|PMID:17360555|PMID:17530415|PMID:17576681|PMID:17963255|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:19489874|PMID:19707180|PMID:19820032|PMID:20696889|PMID:21209029|PMID:21247312|PMID:21700882|PMID:22035731|PMID:22249004|PMID:22319038|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23533228|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24204987|PMID:24497711|PMID:24759409|PMID:25064402|PMID:25077900|PMID:25251565|PMID:25383892|PMID:25394172|PMID:25425165|PMID:25501157|PMID:25636053|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:26942290|PMID:27170295|PMID:27246988|PMID:27363716|PMID:27502037|PMID:27596331|PMID:27884173|PMID:27884859|PMID:28008864|PMID:28492532|PMID:28754744|PMID:28833369|PMID:28915117|PMID:29168297|PMID:31200363|PMID:31475041|PMID:31605817|PMID:31748124|PMID:31837199|PMID:32853167|PMID:33337535|PMID:33442024|PMID:33448156|PMID:33532864|PMID:33548149|PMID:35738466|PMID:6881209|PMID:7795583|PMID:7874169|PMID:8948562|PMID:9536098 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:7240710 20130221 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:11567266|PMID:15625620 20161205 RGD DNA:missense mutation:exon:p.Y372C (1115G>A) (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:7240710 20130221 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fairbank-Keats syndrome | ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:10629055|PMID:12627230|PMID:12952917|PMID:15365636|PMID:15605412|PMID:15625620|PMID:16470795|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:27884173|PMID:28492532|PMID:35738466|PMID:9536098 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:732290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732290 D RGD:13504747|PMID:24027026 20180122 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:732290 D RGD:10402073|PMID:9748519 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:10754 otitis media ISS RGD:732291 D RGD:13592920 20180518 MouseDO OMIM:166760 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:11446 sciatic neuropathy IEP D RGD:10402092|PMID:8971765 20151015 RGD mRNA:increased expression:neuron: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:11832 visual epilepsy IEP D RGD:10402045|PMID:8072686 20151014 RGD protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:12689 acoustic neuroma disease_progression ISO RGD:732290 D RGD:11567268|PMID:15354013 20161205 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:11567243|PMID:7874169 20161202 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:11567271|PMID:25251565 20161205 RGD DNA:missense mutation: :p.P252R (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:13938 amenorrhea ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732290 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:7240710 20130221 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10861678|PMID:10942429|PMID:11173846|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:15793702|PMID:16764984|PMID:16957473|PMID:18034870|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25741868|PMID:26931467|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:1596 depressive disorder ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732290 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:1921 Klinefelter syndrome ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:1924 hypogonadism ISO RGD:732290 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10402044|PMID:8858623 20151014 RGD mRNA:increased expression:cerebral cortex: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:2340 craniosynostosis ISO RGD:732290 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:2340 craniosynostosis ISO RGD:732290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:15605412|PMID:16764984|PMID:23657145|PMID:25064402|PMID:25741868|PMID:26931467|PMID:28492532 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:2340 craniosynostosis ISO RGD:732291 D RGD:11567263|PMID:10942429 20161205 RGD DNA:missense mutation:exon:p.P250R (mouse) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732291 D RGD:13504748|PMID:23576558 20180122 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732291 D RGD:2298702|PMID:18068632 20180122 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3068 glioblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3070 high grade glioma ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3070 high grade glioma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3213 demyelinating disease ISO RGD:732291 D RGD:8655565|PMID:11020217 20140515 RGD protein:increased expression:spinal cord 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3614 Kallmann syndrome ISO RGD:732290 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3614 Kallmann syndrome ISO RGD:732290 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732290 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732290 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732290 D RGD:25330355|PMID:23806793 20200408 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:403 mouth disease treatment IEP D RGD:10402103|PMID:14699553 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:4079 heart valve disease ISO RGD:732290 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30008375 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:732290 D RGD:11352663|PMID:25900027 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:4621 holoprosencephaly ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:17154279|PMID:17530415|PMID:18034870|PMID:23812909|PMID:25741868|PMID:26931467|PMID:26942290|PMID:27363716 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:10402100|PMID:10592054 20151015 RGD mRNA:increased expression:mesangial cell 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:4845 pilomyxoid astrocytoma ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilomyxoid astrocytoma PMID:25705862|PMID:25741868|PMID:26619011|PMID:26942290|PMID:28492532|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:732290 D RGD:11055933|PMID:24925055 20200408 RGD protein:increased expression:liver: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:5223 infertility ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:5327 retinal detachment IEP D RGD:10402077|PMID:10670490 20151015 RGD mRNA,protein:increased expression:layer of retina: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:5419 schizophrenia ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:5844 myocardial infarction ISO RGD:732291 D RGD:10402087|PMID:17439742 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:607 paraplegia ISO RGD:732290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:630 genetic disease ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16882753|PMID:28492532 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:6432 pulmonary hypertension IMP D RGD:2315911|PMID:19197140 20100521 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:674 cleft palate ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732290 D RGD:25330358|PMID:16452204 20200408 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732290 D RGD:25440478|PMID:20155451 20200416 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732290 D RGD:25440476|PMID:21573021 20200416 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:769 neuroblastoma ISO RGD:732290 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:8398 osteoarthritis ISO RGD:732290 D RGD:10402075|PMID:22393163 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732291 D RGD:2298702|PMID:18068632 20180122 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:8692 myeloid leukemia ISO RGD:732290 D RGD:11352666|PMID:19506298 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:8725 vascular dementia treatment IEP D RGD:10402076|PMID:22500404 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:732290 D RGD:11098154|PMID:25394172 20161205 RGD associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9000290 Stargardt Disease 3 ISO RGD:732291 D RGD:10402074|PMID:22199241 20151015 RGD mRNA,protein:increased expression:optic cup: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9000955 Acute Otitis Media ISO RGD:732291 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:decreased expression:middle ear (mouse) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732291 D RGD:13504748|PMID:23576558 20180122 RGD associated with prostate adenocarcinoma 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001036 Penetrating Head Injuries IEP D RGD:10402049|PMID:11168551 20151014 RGD mRNA,protein:increased expression:astrocyte,macrophage,neutrophil: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001239 Delayed Puberty ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:12627230|PMID:16606836|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:25440477|PMID:21543745 20200416 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:11567239|PMID:16882753 20161202 RGD DNA:frameshift mutation, missense mutations: :multiple 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:11567240|PMID:15845591 20161202 RGD DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:11567241|PMID:16764984 20161202 RGD DNA:missense mutations, nonsense mutations:exon:multiple 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:8655640|PMID:9183688 20140520 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732291 D RGD:10402072|PMID:22833219 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9002514 Neointima IDA D RGD:10402089|PMID:15072997 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9004210 Tympanic Membrane Perforation IMP D RGD:10402099|PMID:21590482 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:732291 D RGD:10402072|PMID:22833219 20151015 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9004441 Experimental Leukemia treatment ISO RGD:732290 D RGD:11352669|PMID:22781593 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:7240710 20141015 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hartsfield syndrome PMID:15605412|PMID:16757108|PMID:16764984|PMID:19504604|PMID:20536592|PMID:23657145|PMID:23812909|PMID:24204987|PMID:24888332|PMID:25064402|PMID:25326635|PMID:25741868|PMID:26931467|PMID:28492532|PMID:31474318 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9006618 Liver Metastasis ISO RGD:732290 D RGD:25330357|PMID:19082464 20200408 RGD associated with colorectal cancer;mRNA:increased expression:colorectal mucosa: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:732290 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:7240710 20190315 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:28492532|PMID:33448156 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9007730 Burns IEP D RGD:10402083|PMID:9204964 20151015 RGD protein:increased expression:epidermis: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10629055|PMID:12627230|PMID:15365636|PMID:15605412|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:7240710 20130221 OMIM 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:10629055|PMID:11173846|PMID:12627230|PMID:14513299|PMID:15365636|PMID:15605412|PMID:15793702|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12514106 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732291 D RGD:11251832|PMID:21538817 20161205 RGD DNA:missense mutation:exon:p.P250R (mouse) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008763 Femoral Fractures IEP D RGD:11567258|PMID:11704499 20161205 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20179196|PMID:21936542 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732290 D RGD:11352310|PMID:27005999 20160713 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732290 D RGD:11352670|PMID:23777766 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732290 D RGD:11352665|PMID:22683780 20160714 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:11567264|PMID:24613087 20161205 RGD DNA:SNP: :rs13317 (human) 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732291 D RGD:10401888|PMID:22174314 20151009 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9452 fatty liver disease severity ISO RGD:732290 D RGD:25330354|PMID:32195457 20200408 RGD 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9970 obesity IEP D RGD:10402094|PMID:21430024 20151015 RGD mRNA:increased expression:hypothalamus: 620713 Fgfr1 Fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:732290 D RGD:10402094|PMID:21430024 20151015 RGD mRNA:increased expression:adipose tissue: 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050331 LADD syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16501574|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28483234|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short ribs PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050736 autosomal dominant disease ISS RGD:733045 D RGD:13592920 20180518 MouseDO 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733044 D RGD:38500239|PMID:30563911 20200812 RGD associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050920 tonsil squamous cell carcinoma severity ISO RGD:733044 D RGD:36947883|PMID:30061236 20200805 RGD associated with human papillomavirus;protein:decreased expression:tumor cells (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060249 scoliosis ISS RGD:733045 D RGD:13592920 20181129 MouseDO 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:31976144|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0070004 myeloid neoplasm ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:11429702|PMID:19088846|PMID:19331127|PMID:19381019|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8845844|PMID:9438390|PMID:9843049 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0070309 absence epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0080006 bone development disease ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19215249|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:32981126|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:11568026|PMID:18583390 20161206 RGD DNA:mutation:cds:c.1988 A>C(p.K650T)(human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypochondroplasia PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18000903|PMID:18076102|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18328977|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22622662|PMID:22628360|PMID:22903874|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23726269|PMID:23972473|PMID:24411048|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26754866|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28181399|PMID:28230213|PMID:28492532|PMID:28763161|PMID:28777845|PMID:29595812|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30681580|PMID:30692697|PMID:30753492|PMID:31048079|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:7240710 20180418 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16199547|PMID:16841094|PMID:17033969|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:24864036|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:27139183|PMID:28252636|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23437153 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:11568032|PMID:7493034 20161206 RGD DNA:missense mutation:p.A391E(human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11426459|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17576681|PMID:17875876|PMID:17935505|PMID:18076102|PMID:18583390|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20199409|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7493034|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9536098|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:7240710 20160113 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26467025|PMID:26893459|PMID:28492532 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:19855393|PMID:20348956|PMID:21936542|PMID:24121792|PMID:26853465 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:2289864|PMID:10471491 20080215 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:2301222|PMID:18413799 20081001 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18000903|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:2301224|PMID:18166262 20081001 RGD DNA:mutation 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:2301225|PMID:18072261 20081001 RGD protein:increased expression:urinary bladder 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer severity ISO RGD:733044 D RGD:2301223|PMID:18231634 20081001 RGD DNA:mutations 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1115 sarcoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11166 papillomavirus infectious disease ISO RGD:733044 D RGD:38500237|PMID:25056374 20200812 RGD associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:12960 acrocephalosyndactylia ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:11568030|PMID:9302269 20161206 RGD protein:increased expression:necleus,chondrocyte: 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:2289863|PMID:10073901 20080215 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733045 D RGD:12910972|PMID:11181569 20170630 RGD DNA:missense mutation:exon:p.S365C (mouse) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:14764 Larsen syndrome ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:10360392|PMID:10361991|PMID:10395236|PMID:10777366|PMID:11055896|PMID:11754059|PMID:12707965|PMID:16912704|PMID:18198189|PMID:19088846|PMID:22045636|PMID:23149434|PMID:23165795|PMID:24715719|PMID:25614871|PMID:25741868|PMID:26380986|PMID:28492532|PMID:7670477|PMID:8589686|PMID:9452043|PMID:9672519 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1520 colon carcinoma ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11879084|PMID:11906172|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:21510009|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1612 breast cancer ISO RGD:733044 D RGD:2289867|PMID:11329138 20080215 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1826 epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1856 cherubism ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2339 Crouzon syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2340 craniosynostosis ISO RGD:733044 D RGD:11568028|PMID:11467490 20161206 RGD DNA:missense mutation:cds:p.P250R(human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2340 craniosynostosis ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733044 D RGD:2289866|PMID:11314002 20080215 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:8858131|PMID:9438390|PMID:9677066|PMID:9843049 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2871 endometrial carcinoma ISO RGD:733044 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:2289864|PMID:10471491 20080215 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2998 testicular cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the testes PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:21510009|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:305 carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11426459|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12009017|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15880580|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17935505|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19331127|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20199409|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:21536014|PMID:22869148|PMID:23200862|PMID:23437153|PMID:24075385|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7493034|PMID:7773297|PMID:8589699|PMID:8845844|PMID:8858131|PMID:8880573|PMID:9207791|PMID:9438390|PMID:9677066|PMID:9843049|PMID:9857065 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3138 acanthosis nigricans ISO RGD:733044 D RGD:11568026|PMID:18583390 20161206 RGD DNA:mutation:cds:c.1988 A>C(p.K650T)(human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3138 acanthosis nigricans ISO RGD:733044 D RGD:11568054|PMID:10377013 20161207 RGD DNA:mutation:cds:p.K650M(human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3138 acanthosis nigricans ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:11055896|PMID:11314002|PMID:16912704|PMID:17875876|PMID:18000903|PMID:20453470|PMID:21510009|PMID:25157968|PMID:28492532 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3213 demyelinating disease ISO RGD:733045 D RGD:8655565|PMID:11020217 20140515 RGD protein:increased expression:spinal cord 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3371 chondrosarcoma IEP D RGD:11568634|PMID:17907424 20161208 RGD protein:increased expression:growth plate 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3458 breast adenocarcinoma no_association ISO RGD:733044 D RGD:2289868|PMID:11466624 20080215 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3744 cervical squamous cell carcinoma no_association ISO RGD:733044 D RGD:38500202|PMID:11605053 20200811 RGD DNA:missense mutation:cds: p.S249G (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3965 Merkel cell carcinoma ISO RGD:733044 D RGD:38500206|PMID:28359267 20200811 RGD mRNA:decreased expression:skin (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4006 bladder urothelial carcinoma severity ISO RGD:733044 D RGD:38500205|PMID:28507621 20200811 RGD protein:increased expression:urothelial cells (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4007 bladder carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:10471491|PMID:11038465|PMID:11055896|PMID:11314002|PMID:11429702|PMID:11879084|PMID:12009017|PMID:15772091|PMID:15880580|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18000903|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9790257|PMID:9843049 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4362 cervical cancer ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4440 seminoma ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4465 papillary renal cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:1598937|PMID:8078586 20070104 RGD DNA:missense mutation:cds:p.G380R (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10587515|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10893668|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18076102|PMID:18198189|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22529939|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30692697|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7758520|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8599370|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia severity ISO RGD:733044 D RGD:11568054|PMID:10377013 20161207 RGD DNA:mutation:cds:p.K650M(human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:19381019|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5557 testicular germ cell cancer ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5834 spermatocytoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:10471491|PMID:11055896|PMID:11241532|PMID:11429702|PMID:12624096|PMID:16752380|PMID:16912704|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:21510009|PMID:24075385|PMID:25741868|PMID:28492532|PMID:7773297|PMID:9207791|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:630 genetic disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094188|PMID:10215410|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10607835|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11424131|PMID:11426459|PMID:11746040|PMID:11754059|PMID:12707965|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17552943|PMID:17935505|PMID:18198189|PMID:18266238|PMID:18976668|PMID:19088846|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301331|PMID:20301588|PMID:20301628|PMID:20624921|PMID:21324899|PMID:21536014|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23437153|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25326635|PMID:25614871|PMID:25691418|PMID:25741868|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26740388|PMID:26893459|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7493034|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:6498 seborrheic keratosis ISO RGD:733044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:65 connective tissue disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10607835|PMID:10696568|PMID:10777366|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11529856|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:15517832|PMID:15772091|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20624921|PMID:21324899|PMID:21739570|PMID:22045636|PMID:23056398|PMID:23149434|PMID:23165795|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25741868|PMID:25777271|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26887047|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29593476|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32502767|PMID:33942288|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8673103|PMID:8858131|PMID:9279764|PMID:9452043|PMID:9672519|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:6536 plasma cell neoplasm ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:674 cleft palate ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:687 hepatoblastoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:769 neuroblastoma ISO RGD:733044 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:733044 D RGD:36947884|PMID:14562121 20200805 RGD mRNA:increased expression:peripheral blood (human) 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:28492532|PMID:32934698 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:8649 tongue cancer severity ISO RGD:733044 D RGD:36947883|PMID:30061236 20200805 RGD associated with human papillomavirus;protein:decreased expression:tumor cells 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:733045 D RGD:11568056|PMID:27159076 20161207 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9002835 LADD Syndrome 2 ISO RGD:733044 D RGD:7240710 20230125 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9002862 Craniosynostosis 3 ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003571 Paraproteinemias ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:7240710 20130731 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic | ClinVar Annotator: match by term: Testicular germ cell tumor PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733044 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:7240710 20130221 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12624096|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24075385|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9006257 Growth Disorders ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9006534 Nervous System Malformations ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9007253 Hamartoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9007661 Dwarfism ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10696568|PMID:10777366|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11754059|PMID:12707965|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18198189|PMID:18642369|PMID:1908846|PMID:19088846|PMID:20301540|PMID:22045636|PMID:22903874|PMID:23149434|PMID:23165795|PMID:24411048|PMID:24715719|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26380986|PMID:26619011|PMID:28492532|PMID:29595812|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8858131|PMID:9452043|PMID:9672519|PMID:9677066 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9007661 Dwarfism ISO RGD:733045 D RGD:11568033|PMID:25456072 20161206 RGD 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:733044 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008166 Achondroplastic Dwarfism ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achondroplastic dwarfism PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17526800|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26220993|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26992226|PMID:28492532|PMID:29620724|PMID:30138938|PMID:30355600|PMID:31130284|PMID:32238909|PMID:4697848|PMID:7647778|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11426459|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17935505|PMID:18976668|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301588|PMID:20301628|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25326635|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:7493034|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733044 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008797 Facial Asymmetry ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:7240710 20140813 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22016144|PMID:22622662|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843049|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:733044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10671061|PMID:10696568|PMID:10861678|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15772091|PMID:15915095|PMID:16841094|PMID:17384684|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20453470|PMID:21510009|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:7773297|PMID:8589699|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:7240710 20200226 OMIM 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9296 cleft lip ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9538 multiple myeloma ISO RGD:733044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 620714 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9538 multiple myeloma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10073901|PMID:10471491|PMID:10696568|PMID:11055896|PMID:11241532|PMID:11429702|PMID:11529856|PMID:12624096|PMID:12833394|PMID:15772091|PMID:16752380|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:21510009|PMID:24075385|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8858131|PMID:9207791|PMID:9677066 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0050952 spastic ataxia ISO RGD:731981 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731981 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0080600 COVID-19 ISO RGD:731981 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1059 intellectual disability ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19266219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31152168 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731981 D RGD:10412025|PMID:21480501 20151111 RGD DNA:SNP: :rs16934131 (human) 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:11981 morbid obesity ISO RGD:731981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:12849 autistic disorder ISO RGD:731981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16946189 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1824 status epilepticus ISO RGD:731981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18695509 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1826 epilepsy ISO RGD:731981 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:4450 renal cell carcinoma ISO RGD:731981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:630 genetic disease ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:29330545|PMID:31152168|PMID:32132200 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:731981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28090300 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:893 Wilson disease ISO RGD:731981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:25741868|PMID:26195193|PMID:28492532|PMID:29330545 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9000099 Experimental Colitis IEP D RGD:10412026|PMID:23986198 20151111 RGD mRNA, protein:increased expression:colon 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21695131 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:731981 D RGD:7240710 20230505 OMIM 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002672 Generalized Epilepsy and Paroxysmal Dyskinesia ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:15937479|PMID:16199547|PMID:16946189|PMID:17576681|PMID:18414213|PMID:19266219|PMID:20430843|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29330545|PMID:29356177|PMID:29545233|PMID:29738522|PMID:29933521|PMID:9536098 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:7240710 20230505 OMIM 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29545233|PMID:9536098 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004657 Weight Gain ISO RGD:731981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:7240710 20230505 OMIM 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 PMID:25741868|PMID:28492532 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10412030|PMID:24589593 20151111 RGD mRNA, protein:decreased expression:aorta, smooth muscle 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9006257 Growth Disorders ISO RGD:731981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731981 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Global developmental delay 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008539 Perinatal Death ISO RGD:731981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:7240710 20230505 OMIM 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Liang-Wang syndrome PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:17576681|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:31152168|PMID:32132200|PMID:9536098 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731981 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 620715 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9970 obesity ISO RGD:731981 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 620716 Sfxn3 sideroflexin 3 gene DOID:630 genetic disease ISO RGD:1345797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620716 Sfxn3 sideroflexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345797 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620717 Bcl2l2 Bcl2-like 2 gene DOID:0002116 pterygium IEP D RGD:14394423|PMID:27415790 20190315 RGD RNA:increased expression:conjunctiva 620717 Bcl2l2 Bcl2-like 2 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1352362 D RGD:14394511|PMID:28094768 20190326 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1352362 D RGD:14394422|PMID:10638987 20190315 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 620717 Bcl2l2 Bcl2-like 2 gene DOID:10652 Alzheimer's disease ISO RGD:1352362 D RGD:14394419|PMID:15147516 20190315 RGD protein:increased expression:hippocampus, cortex 620717 Bcl2l2 Bcl2-like 2 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:14394421|PMID:20460763 20190315 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:11994 atrophy of testis ISO RGD:1551699 D RGD:734642|PMID:9500547 20190327 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:14227 azoospermia ISO RGD:1551699 D RGD:14394611|PMID:9770502 20190327 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:1826 epilepsy IEP D RGD:14394514|PMID:11403928 20190326 RGD protein:increased expression: hippocampu 620717 Bcl2l2 Bcl2-like 2 gene DOID:224 transient cerebral ischemia IEP D RGD:14394498|PMID:10724126 20190322 RGD protein:increased expression:cortex and caudate putamen 620717 Bcl2l2 Bcl2-like 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1352362 D RGD:14394500|PMID:12571640 20190322 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:2377 multiple sclerosis ISO RGD:1352362 D RGD:14394512|PMID:24270187 20190326 RGD mRNA:decreased expression:brain: 620717 Bcl2l2 Bcl2-like 2 gene DOID:630 genetic disease ISO RGD:1352362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620717 Bcl2l2 Bcl2-like 2 gene DOID:707 B-cell lymphoma disease_progression ISO RGD:1551699 D RGD:14394511|PMID:28094768 20190326 RGD 620717 Bcl2l2 Bcl2-like 2 gene DOID:8584 Burkitt lymphoma ISO RGD:1352362 D RGD:14394511|PMID:28094768 20190326 RGD mRNA:increased expression:lymph node 620717 Bcl2l2 Bcl2-like 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 620717 Bcl2l2 Bcl2-like 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352362 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620718 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:735723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620718 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735723 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 620718 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620718 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:9005172 Lung Neoplasms ISO RGD:735723 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25678704|PMID:26467025|PMID:28492532|PMID:28589176|PMID:29130122 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348513 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1348513 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:7240710 20131030 OMIM 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:15215304|PMID:16199547|PMID:16616186|PMID:17576681|PMID:17893116|PMID:18414213|PMID:18615734|PMID:21633362|PMID:21731583|PMID:22612257|PMID:23033978|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:27238888|PMID:28492532|PMID:28589176|PMID:28620718|PMID:28708303|PMID:29130122|PMID:30914922|PMID:31054490|PMID:32005694|PMID:32860008|PMID:33860439|PMID:9536098 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348513 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1059 intellectual disability ISO RGD:1348513 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12849 autistic disorder ISO RGD:1348513 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1826 epilepsy ISO RGD:1348513 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Epilepsy 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:630 genetic disease ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16616186|PMID:18414213|PMID:21731583|PMID:22612257|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28620718|PMID:29130122|PMID:30914922 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21807943 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17893116|PMID:18615734|PMID:23033978|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28708303 620719 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008582 Developmental Disease ISO RGD:1348513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:732691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:21948486|PMID:25741868|PMID:28492532 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:7240710 20190315 OMIM 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:62364 D RGD:5686673|PMID:21333939 20120125 RGD mRNA:decreased expression:cerebral cortex 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732691 D RGD:5686430|PMID:21743130 20120124 RGD mRNA, protein:decreased expression:frontal association cortex 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:11372 megacolon ISO RGD:732691 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:62364|RGD:732691 D RGD:5686805|PMID:16987871 20120126 RGD mRNA, protein:decreased expression:brain, spinal cord 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:1824 status epilepticus ISO RGD:62364 D RGD:5686685|PMID:18394802 20120125 RGD 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:2841 asthma IEP D RGD:5686690|PMID:17328924 20120125 RGD 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732691 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:365 bladder disease IEP D RGD:5686699|PMID:17229408 20120125 RGD associated with Spinal Cord Injuries;protein:decreased expression:axon terminus 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:5419 schizophrenia ISO RGD:732691 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:630 genetic disease ISO RGD:732691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:9000998 Brain Injuries IEP D RGD:5686682|PMID:18848922 20120125 RGD protein:decreased expression:brain 62072 Slc18a3 solute carrier family 18 member A3 gene DOID:9005930 Endotoxemia IEP D RGD:5686693|PMID:17306796 20120125 RGD protein:decreased expression:parietal cortex 620720 Gtf2a2 general transcription factor 2A subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:737167 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620720 Gtf2a2 general transcription factor 2A subunit 2 gene DOID:630 genetic disease ISO RGD:737167 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620720 Gtf2a2 general transcription factor 2A subunit 2 gene DOID:9256 colorectal cancer ISO RGD:737167 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620721 Blvra biliverdin reductase A gene DOID:0080600 COVID-19 ISO RGD:733010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620721 Blvra biliverdin reductase A gene DOID:13580 cholestasis ISO RGD:733010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 620721 Blvra biliverdin reductase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733010 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620721 Blvra biliverdin reductase A gene DOID:630 genetic disease ISO RGD:733010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620721 Blvra biliverdin reductase A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620721 Blvra biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:7240710 20140911 OMIM 620721 Blvra biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbiliverdinemia PMID:19580635|PMID:21278388|PMID:25741868 620722 Zfp36 zinc finger protein 36 gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620722 Zfp36 zinc finger protein 36 gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 620722 Zfp36 zinc finger protein 36 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 620722 Zfp36 zinc finger protein 36 gene DOID:1612 breast cancer disease_progression ISO RGD:737182 D RGD:153344515|PMID:32248342 20220818 RGD mRNA:decreased expression:breast (human) 620722 Zfp36 zinc finger protein 36 gene DOID:2723 dermatitis ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 620722 Zfp36 zinc finger protein 36 gene DOID:630 genetic disease ISO RGD:737182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620722 Zfp36 zinc finger protein 36 gene DOID:684 hepatocellular carcinoma ISO RGD:737182 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620722 Zfp36 zinc finger protein 36 gene DOID:7148 rheumatoid arthritis ISS RGD:737183 D RGD:13592920 20180518 MouseDO OMIM:180300 620722 Zfp36 zinc finger protein 36 gene DOID:848 arthritis ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 620722 Zfp36 zinc finger protein 36 gene DOID:9002221 Hyperplasia ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 620722 Zfp36 zinc finger protein 36 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25556371 620722 Zfp36 zinc finger protein 36 gene DOID:9005372 Inflammation ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12756304 620722 Zfp36 zinc finger protein 36 gene DOID:9006827 Lung Reperfusion Injury exacerbates ISO RGD:737183 D RGD:153350155|PMID:34238924 20220914 RGD 620722 Zfp36 zinc finger protein 36 gene DOID:9007102 Myocardial Ischemia ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620722 Zfp36 zinc finger protein 36 gene DOID:9007346 Cachexia ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12756304|PMID:15944294 620722 Zfp36 zinc finger protein 36 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 620722 Zfp36 zinc finger protein 36 gene DOID:987 alopecia ISO RGD:737182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 620723 Zfp37 zinc finger protein 37 gene DOID:630 genetic disease ISO RGD:736935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620723 Zfp37 zinc finger protein 37 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736935 D RGD:11554173 20211221 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620724 Abtb2 ankyrin repeat and BTB domain containing 2 gene DOID:1059 intellectual disability ISO RGD:733617 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620724 Abtb2 ankyrin repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:733617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620725 Pcdhga4 protocadherin gamma subfamily A, 4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1351804 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620725 Pcdhga4 protocadherin gamma subfamily A, 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351804 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620725 Pcdhga4 protocadherin gamma subfamily A, 4 gene DOID:630 genetic disease ISO RGD:1351804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620725 Pcdhga4 protocadherin gamma subfamily A, 4 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1351804 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 620725 Pcdhga4 protocadherin gamma subfamily A, 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351804 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620725 Pcdhga4 protocadherin gamma subfamily A, 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351804 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620726 Barhl2 BarH-like homeobox 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1344726 D RGD:14390167|PMID:27542258 20190225 RGD protein:decreased expression:mouth mucosa 620726 Barhl2 BarH-like homeobox 2 gene DOID:10534 stomach cancer treatment ISO RGD:1344726 D RGD:14392685|PMID:27441821 20190225 RGD 620726 Barhl2 BarH-like homeobox 2 gene DOID:630 genetic disease ISO RGD:1344726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620726 Barhl2 BarH-like homeobox 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344726 D RGD:14390167|PMID:27542258 20190225 RGD associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa 620726 Barhl2 BarH-like homeobox 2 gene DOID:9256 colorectal cancer severity ISO RGD:1344726 D RGD:14392684|PMID:27453340 20190225 RGD 620727 Itm2b integral membrane protein 2B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1353059 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 620727 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:1358403|PMID:11159188 19990101 RGD 620727 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:7240710 20130221 OMIM 620727 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Presenile dementia with spastic ataxia PMID:10391242|PMID:21610757|PMID:25741868|PMID:28492532|PMID:31719132 620727 Itm2b integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:7240710 20130221 OMIM 620727 Itm2b integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica PMID:10781099|PMID:25741868|PMID:28492532|PMID:31719132|PMID:5457846 620727 Itm2b integral membrane protein 2B gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1353059 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 620727 Itm2b integral membrane protein 2B gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1353059 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868 620727 Itm2b integral membrane protein 2B gene DOID:1059 intellectual disability ISO RGD:1353059 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 620727 Itm2b integral membrane protein 2B gene DOID:10763 hypertension ISO RGD:1353059 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 620727 Itm2b integral membrane protein 2B gene DOID:630 genetic disease ISO RGD:1353059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620727 Itm2b integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 620727 Itm2b integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 620727 Itm2b integral membrane protein 2B gene DOID:8725 vascular dementia ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 620727 Itm2b integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:7240710 20170405 OMIM 620727 Itm2b integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities PMID:24026677|PMID:25741868|PMID:28492532|PMID:31719132 620727 Itm2b integral membrane protein 2B gene DOID:9246 cerebral amyloid angiopathy ISS RGD:1557698 D RGD:13592920 20180518 MouseDO 620728 Kcnmb4 potassium calcium-activated channel subfamily M regulatory beta subunit 4 gene DOID:630 genetic disease ISO RGD:1343155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620729 Pcdhga9 protocadherin gamma subfamily A, 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345022 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620729 Pcdhga9 protocadherin gamma subfamily A, 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620729 Pcdhga9 protocadherin gamma subfamily A, 9 gene DOID:630 genetic disease ISO RGD:1345022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620729 Pcdhga9 protocadherin gamma subfamily A, 9 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1345022 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 620729 Pcdhga9 protocadherin gamma subfamily A, 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345022 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620729 Pcdhga9 protocadherin gamma subfamily A, 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62073 P2rx4 purinergic receptor P2X 4 gene DOID:0080600 COVID-19 ISO RGD:732285 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 62073 P2rx4 purinergic receptor P2X 4 gene DOID:1826 epilepsy ISO RGD:732285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 62073 P2rx4 purinergic receptor P2X 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:732285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19084381 62073 P2rx4 purinergic receptor P2X 4 gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum 62073 P2rx4 purinergic receptor P2X 4 gene DOID:630 genetic disease ISO RGD:732285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62073 P2rx4 purinergic receptor P2X 4 gene DOID:9001240 Peripheral Nerve Injuries sexual_dimorphism IEP D RGD:40924654|PMID:29927790 20210119 RGD in male rat; protein:increased expression:microglia 62073 P2rx4 purinergic receptor P2X 4 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:40924654|PMID:29927790 20210119 RGD associated with Peripheral Nerve Injuries; 620730 Lin7b lin-7 homolog B, crumbs cell polarity complex component gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 620730 Lin7b lin-7 homolog B, crumbs cell polarity complex component gene DOID:0111076 progressive familial heart block type IB ISO RGD:734321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 620730 Lin7b lin-7 homolog B, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:734321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620731 Btnl2 butyrophilin-like 2 gene DOID:0050553 JMP syndrome ISO RGD:1353557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620731 Btnl2 butyrophilin-like 2 gene DOID:10322 berylliosis ISO RGD:1353557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17927685 620731 Btnl2 butyrophilin-like 2 gene DOID:10322 berylliosis susceptibility ISO RGD:1353557 D RGD:9685029|PMID:17927685 20141215 RGD DNA:SNP: :rs3117099(human) 620731 Btnl2 butyrophilin-like 2 gene DOID:11335 sarcoidosis ISO RGD:1353557 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620731 Btnl2 butyrophilin-like 2 gene DOID:11335 sarcoidosis ISO RGD:1353557 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2 PMID:15735647 620731 Btnl2 butyrophilin-like 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353557 D RGD:7240710 20190502 OMIM 620731 Btnl2 butyrophilin-like 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353557 D RGD:7365045|PMID:22991420 20141215 RGD DNA:SNP: :rs2076530(human) 620731 Btnl2 butyrophilin-like 2 gene DOID:12361 Graves' disease onset ISO RGD:1353557 D RGD:9685042|PMID:24684463 20141216 RGD DNA:SNP: :rs17577980(human) 620731 Btnl2 butyrophilin-like 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1353557 D RGD:9685030|PMID:19882345 20141215 RGD DNA:SNP: :rs 1555115(human) 620731 Btnl2 butyrophilin-like 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353557 D RGD:9685030|PMID:19882345 20141215 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human) 620731 Btnl2 butyrophilin-like 2 gene DOID:399 tuberculosis no_association ISO RGD:1353557 D RGD:9685036|PMID:17347014 20141215 RGD DNA:SNPs,haplotypes: : 620731 Btnl2 butyrophilin-like 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353557 D RGD:9685035|PMID:20176143 20141215 RGD DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) 620731 Btnl2 butyrophilin-like 2 gene DOID:630 genetic disease ISO RGD:1353557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620731 Btnl2 butyrophilin-like 2 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1353557 D RGD:9685033|PMID:23364395 20141215 RGD DNA:SNPs: : 620731 Btnl2 butyrophilin-like 2 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1353557 D RGD:9685032|PMID:19659809 20141215 RGD DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) 620732 Ephx2 epoxide hydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731054 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:30890645|PMID:35663546 620732 Ephx2 epoxide hydrolase 2 gene DOID:0060319 cardiac arrest ISO RGD:731055 D RGD:5688386|PMID:17728042 20120229 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 620732 Ephx2 epoxide hydrolase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 620732 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension IDA D RGD:1580985|PMID:16157792 19990101 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension IMP D RGD:5688733|PMID:21720266 20120302 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:731055 D RGD:5688730|PMID:19553349 20120302 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension susceptibility ISO RGD:731054 D RGD:5688727|PMID:20065888 20120302 RGD DNA:missense mutation:cds:p.K55R (human) 620732 Ephx2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:7240710 20130221 OMIM 620732 Ephx2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10862610|PMID:12522687|PMID:14673705|PMID:14732757|PMID:15845398|PMID:25741868 620732 Ephx2 epoxide hydrolase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:731054 D RGD:5688390|PMID:11692079 20120229 RGD DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) 620732 Ephx2 epoxide hydrolase 2 gene DOID:1936 atherosclerosis ISO RGD:731055 D RGD:5688357|PMID:20224052 20120228 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:3021 acute kidney failure ISO RGD:731054 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26165641 620732 Ephx2 epoxide hydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:731054 D RGD:1580982|PMID:14732757 19990101 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:3526 cerebral infarction IDA D RGD:1580986|PMID:16306811 19990101 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:5419 schizophrenia ISO RGD:731054 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30890645 620732 Ephx2 epoxide hydrolase 2 gene DOID:5844 myocardial infarction ISO RGD:731055 D RGD:5688358|PMID:19716829 20120228 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:6000 congestive heart failure ISO RGD:731054 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18443590 620732 Ephx2 epoxide hydrolase 2 gene DOID:630 genetic disease ISO RGD:731054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620732 Ephx2 epoxide hydrolase 2 gene DOID:6432 pulmonary hypertension IMP D RGD:5688731|PMID:19226702 20120302 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:783 end stage renal disease disease_progression ISO RGD:731055 D RGD:5688726|PMID:20694143 20120302 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9000146 Plaque, Atherosclerotic susceptibility ISO RGD:731054 D RGD:5688389|PMID:16545818 20120229 RGD DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) (human) 620732 Ephx2 epoxide hydrolase 2 gene DOID:9000528 Coronary Disease ISO RGD:731054 D RGD:1580981|PMID:16595607 19990101 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9000998 Brain Injuries ISO RGD:731055 D RGD:5688356|PMID:21075124 20120228 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731054 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 620732 Ephx2 epoxide hydrolase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731055 D RGD:5688728|PMID:21832210 20120302 RGD associated with Diabetes Mellitus, Experimental 620732 Ephx2 epoxide hydrolase 2 gene DOID:9002211 Hyperalgesia IMP D RGD:5688387|PMID:16962614 20120229 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731055 D RGD:5688359|PMID:19471280 20120228 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9004610 Acute Lung Injury IDA D RGD:5688354|PMID:22051199 20120228 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9005930 Endotoxemia ISO RGD:731055 D RGD:5688360|PMID:19154430 20120228 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9006646 Metabolic Syndrome IMP D RGD:5688391|PMID:22007192 20120229 RGD 620732 Ephx2 epoxide hydrolase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731054 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26165641 620732 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke IAGP D RGD:5688363|PMID:18086949 20120228 RGD DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T (rat) 620732 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:5688362|PMID:18323494 20120228 RGD DNA:SNP:intron:IVS16 (rs2291635) (human) 620732 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:5688727|PMID:20065888 20120302 RGD DNA:missense mutation:cds:p.K55R (human) 620732 Ephx2 epoxide hydrolase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731054 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 620732 Ephx2 epoxide hydrolase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731054 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 620733 Tas2r119 taste receptor, type 2, member 119 gene DOID:630 genetic disease ISO RGD:1352499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620734 Ctnnd2 catenin delta 2 gene DOID:1324 lung cancer ISO RGD:1353744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 620734 Ctnnd2 catenin delta 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1353744 D RGD:40902831|PMID:24256404 20201214 RGD DNA:polymorphism:multiple (human) 620734 Ctnnd2 catenin delta 2 gene DOID:2030 anxiety disorder susceptibility ISO RGD:1353744 D RGD:40902831|PMID:24256404 20201214 RGD DNA:polymorphism:multiple (human) 620734 Ctnnd2 catenin delta 2 gene DOID:3068 glioblastoma ISO RGD:1353744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 620734 Ctnnd2 catenin delta 2 gene DOID:5419 schizophrenia ISO RGD:1353744 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620734 Ctnnd2 catenin delta 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1353744 D RGD:40902831|PMID:24256404 20201214 RGD DNA:polymorphism:multiple (human) 620734 Ctnnd2 catenin delta 2 gene DOID:630 genetic disease ISO RGD:1353744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12835311|PMID:15733271|PMID:25106414|PMID:25473103|PMID:25741868|PMID:25807484|PMID:25839933|PMID:26601658|PMID:29127138 620734 Ctnnd2 catenin delta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620734 Ctnnd2 catenin delta 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 620735 Tas2r118 taste receptor, type 2, member 118 gene DOID:1574 alcohol use disorder ISO RGD:1343606 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16385453|PMID:17250611 620735 Tas2r118 taste receptor, type 2, member 118 gene DOID:1574 alcohol use disorder ISO RGD:1343606 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Alcohol dependence, susceptibility to PMID:10923994|PMID:16051168|PMID:16385453|PMID:17250611|PMID:24177185|PMID:9603606 620735 Tas2r118 taste receptor, type 2, member 118 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1343606 D RGD:7240710 20230517 OMIM 620735 Tas2r118 taste receptor, type 2, member 118 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343606 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620735 Tas2r118 taste receptor, type 2, member 118 gene DOID:630 genetic disease ISO RGD:1343606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620738 Tas2r121 taste receptor, type 2, member 121 gene DOID:630 genetic disease ISO RGD:1344570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620739 Bmp1 bone morphogenetic protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:24033266|PMID:25741868|PMID:28492532 620739 Bmp1 bone morphogenetic protein 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605441 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 620739 Bmp1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:7240710 20140911 OMIM 620739 Bmp1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:15542026|PMID:22052668|PMID:22482805|PMID:24091809|PMID:24648371|PMID:25214535|PMID:25402547|PMID:25741868|PMID:28492532|PMID:29499418 620739 Bmp1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868 620739 Bmp1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24033266|PMID:25741868|PMID:28492532 620739 Bmp1 bone morphogenetic protein 1 gene DOID:630 genetic disease ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620739 Bmp1 bone morphogenetic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:1551822 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:increased expression:middle ear (mouse) 620739 Bmp1 bone morphogenetic protein 1 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1605441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:24033266|PMID:28492532 620739 Bmp1 bone morphogenetic protein 1 gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:24033266|PMID:25741868|PMID:28492532 620739 Bmp1 bone morphogenetic protein 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 62074 Inhba inhibin subunit beta A gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 62074 Inhba inhibin subunit beta A gene DOID:10591 pre-eclampsia ISO RGD:732688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17332518 62074 Inhba inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:2313385|PMID:7852520 20090922 RGD protein:increased expression:serum 62074 Inhba inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:2313391|PMID:14663836 20090922 RGD protein:decreased expression:serum 62074 Inhba inhibin subunit beta A gene DOID:127 leiomyoma ISO RGD:732688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 62074 Inhba inhibin subunit beta A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:732688 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 62074 Inhba inhibin subunit beta A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:732688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 62074 Inhba inhibin subunit beta A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732688 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 62074 Inhba inhibin subunit beta A gene DOID:5844 myocardial infarction IEP D RGD:1580888|PMID:14993131 20230424 RGD mRNA:increased expression:heart (rat) 62074 Inhba inhibin subunit beta A gene DOID:6000 congestive heart failure severity ISO RGD:732688 D RGD:1580888|PMID:14993131 20230424 RGD mRNA, protein:increased expression:PBMC, Tcells, serum (human) 62074 Inhba inhibin subunit beta A gene DOID:630 genetic disease ISO RGD:732688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62074 Inhba inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:329322882|PMID:10415398 20230424 RGD mRNA:increased expression:brain (rat) 62074 Inhba inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732688 D RGD:329322882|PMID:10415398 20230424 RGD human construct in rat model 62074 Inhba inhibin subunit beta A gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732688 D RGD:2301688|PMID:16423381 20081028 RGD protein:decreased expression:endometrium 62074 Inhba inhibin subunit beta A gene DOID:9004268 Uterine Neoplasms ISO RGD:732688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 62074 Inhba inhibin subunit beta A gene DOID:9004590 Acute Liver Failure ISO RGD:732688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 620742 Uck2 uridine-cytidine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602230 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620742 Uck2 uridine-cytidine kinase 2 gene DOID:1793 pancreatic cancer ISO RGD:1602230 D RGD:5133269|PMID:12149149 20110610 RGD protein:increased expression:pancreatic neoplasm (human) 620742 Uck2 uridine-cytidine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1602230 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620742 Uck2 uridine-cytidine kinase 2 gene DOID:630 genetic disease ISO RGD:1602230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620742 Uck2 uridine-cytidine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602230 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 620742 Uck2 uridine-cytidine kinase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2317214|PMID:221781 20100319 RGD protein:decreased activity:heart, skeletal muscle 620742 Uck2 uridine-cytidine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1602230 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620742 Uck2 uridine-cytidine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602230 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620743 Bmp7 bone morphogenetic protein 7 gene DOID:0050848 obstructive sleep apnea ISS RGD:1553810 D RGD:13592920 20210325 MouseDO OMIM:107650 620743 Bmp7 bone morphogenetic protein 7 gene DOID:0080011 bone resorption disease ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17513972 620743 Bmp7 bone morphogenetic protein 7 gene DOID:0080205 CAKUT ISO RGD:1344234 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 620743 Bmp7 bone morphogenetic protein 7 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:1344234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:28492532 620743 Bmp7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer ISO RGD:1344234 D RGD:2289031|PMID:15861517 20080116 RGD protein:decreased expression:prostate gland 620743 Bmp7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer susceptibility ISO RGD:1344234 D RGD:2289030|PMID:17656261 20080116 RGD DNA:amplification:prostate gland 620743 Bmp7 bone morphogenetic protein 7 gene DOID:11400 pyelonephritis IEP D RGD:2289039|PMID:16034630 20080117 RGD protein:decreased expression:kidney 620743 Bmp7 bone morphogenetic protein 7 gene DOID:12556 acute kidney tubular necrosis IEP D RGD:1601494|PMID:16284088 20080117 RGD associated with Kidney Reperfusion Injury;protein:increased expression:kidney 620743 Bmp7 bone morphogenetic protein 7 gene DOID:1612 breast cancer ISO RGD:1344234 D RGD:1643590|PMID:17004110 20080111 RGD mRNA:increased expression:breast 620743 Bmp7 bone morphogenetic protein 7 gene DOID:2154 nephroblastoma IEP D RGD:2289034|PMID:9808158 20080116 RGD mRNA:decreased expression:kidney 620743 Bmp7 bone morphogenetic protein 7 gene DOID:289 endometriosis ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620743 Bmp7 bone morphogenetic protein 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17975199 620743 Bmp7 bone morphogenetic protein 7 gene DOID:4001 ovarian carcinoma ISO RGD:1344234 D RGD:2289032|PMID:15277215 20080116 RGD protein:increased expression:ovary 620743 Bmp7 bone morphogenetic protein 7 gene DOID:4297 scimitar syndrome ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:28492532 620743 Bmp7 bone morphogenetic protein 7 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1344234 D RGD:1643589|PMID:17644140 20080111 RGD 620743 Bmp7 bone morphogenetic protein 7 gene DOID:557 kidney disease IEP D RGD:2289038|PMID:16549155 20080116 RGD protein:decreased expression:kidney 620743 Bmp7 bone morphogenetic protein 7 gene DOID:630 genetic disease ISO RGD:1344234 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19855013 620743 Bmp7 bone morphogenetic protein 7 gene DOID:6419 tetralogy of Fallot ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 620743 Bmp7 bone morphogenetic protein 7 gene DOID:8398 osteoarthritis ISS RGD:1553810 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9000955 Acute Otitis Media ISO RGD:1553810 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:increased expression:middle ear (mouse) 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344234 D RGD:2289033|PMID:12539225 20080116 RGD associated with Prostatic Neoplasms;mRNA:increased expression:bone 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1344234 D RGD:2289029|PMID:17895257 20080115 RGD associated with Breast Neoplasms;protein:increased expression:breast 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9001547 Tibial Fractures IEP D RGD:2289037|PMID:16651391 20080116 RGD protein:increased expression:tibia 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17127702 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9001820 Pulmonary Arterial Hypertension IEP D RGD:155888480|PMID:31542483 20230207 RGD protein:increased expression:lung, pulmonary artery (rat) 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2289036|PMID:17437042 20080116 RGD 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:19283074 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9002589 Bone Fractures ISO RGD:1344234 D RGD:11554173 20170516 CTD CTD Direct Evidence: therapeutic PMID:27394662 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9007402 Gliosis IEP D RGD:1643225|PMID:17696121 20080111 RGD protein:increased expression:spinal cord 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures IEP D RGD:2289041|PMID:9626398 20080117 RGD 620743 Bmp7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:1344234 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16234978 620744 Ift172 intraflagellar transport 172 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731569 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620744 Ift172 intraflagellar transport 172 gene DOID:0050651 atrioventricular septal defect ISS RGD:1552058 D RGD:13592920 20180518 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 620744 Ift172 intraflagellar transport 172 gene DOID:0050777 Joubert syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24140113|PMID:25741868|PMID:26092869 620744 Ift172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:7240710 20210818 OMIM 620744 Ift172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:24290075|PMID:25168386|PMID:25741868|PMID:26763875|PMID:28492532|PMID:31587445|PMID:32451492 620744 Ift172 intraflagellar transport 172 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:24290075|PMID:25741868|PMID:28492532|PMID:31587445|PMID:32451492 620744 Ift172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:7240710 20140911 OMIM 620744 Ift172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24140113|PMID:24290075|PMID:25168386|PMID:25640679|PMID:25664603|PMID:25741868|PMID:26092869|PMID:26893459|PMID:28492532|PMID:28559085|PMID:29068549|PMID:31054281|PMID:31475041|PMID:31587445|PMID:32451492|PMID:32783370|PMID:32939031|PMID:33393400|PMID:34567078|PMID:9536098 620744 Ift172 intraflagellar transport 172 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:731569 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:24140113|PMID:25741868|PMID:28492532|PMID:29068549 620744 Ift172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:7240710 20150624 OMIM 620744 Ift172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:16199547|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532|PMID:32783370 620744 Ift172 intraflagellar transport 172 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 620744 Ift172 intraflagellar transport 172 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620744 Ift172 intraflagellar transport 172 gene DOID:10584 retinitis pigmentosa ISO RGD:731569 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532 620744 Ift172 intraflagellar transport 172 gene DOID:12712 nephronophthisis ISO RGD:731569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868 620744 Ift172 intraflagellar transport 172 gene DOID:14679 VACTERL association ISS RGD:1552058 D RGD:13592920 20180518 MouseDO OMIM:192350 | OMIM:276950 620744 Ift172 intraflagellar transport 172 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 620744 Ift172 intraflagellar transport 172 gene DOID:630 genetic disease ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31475041 620744 Ift172 intraflagellar transport 172 gene DOID:8466 retinal degeneration ISS RGD:1552058 D RGD:13592920 20200116 MouseDO 620744 Ift172 intraflagellar transport 172 gene DOID:8501 fundus dystrophy ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24140113|PMID:25741868|PMID:28492532|PMID:28559085 620744 Ift172 intraflagellar transport 172 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731569 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 620744 Ift172 intraflagellar transport 172 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731569 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 620745 Ubqln1 ubiquilin 1 gene DOID:630 genetic disease ISO RGD:731465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620745 Ubqln1 ubiquilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747970 620746 Pcdhgc3 protocadherin gamma subfamily C, 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349055 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620746 Pcdhgc3 protocadherin gamma subfamily C, 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620746 Pcdhgc3 protocadherin gamma subfamily C, 3 gene DOID:630 genetic disease ISO RGD:1349055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620746 Pcdhgc3 protocadherin gamma subfamily C, 3 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1349055 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 620746 Pcdhgc3 protocadherin gamma subfamily C, 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349055 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620746 Pcdhgc3 protocadherin gamma subfamily C, 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620747 Slc12a9 solute carrier family 12, member 9 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:28492532 620747 Slc12a9 solute carrier family 12, member 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347947 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620747 Slc12a9 solute carrier family 12, member 9 gene DOID:630 genetic disease ISO RGD:1347947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620747 Slc12a9 solute carrier family 12, member 9 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:25741868|PMID:28492532|PMID:28687708 620748 Gpr173 G-protein coupled receptor 173 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347737 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620748 Gpr173 G-protein coupled receptor 173 gene DOID:12849 autistic disorder ISO RGD:1347737 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620748 Gpr173 G-protein coupled receptor 173 gene DOID:630 genetic disease ISO RGD:1347737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620749 Pcdha10 protocadherin alpha 10 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352620 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620749 Pcdha10 protocadherin alpha 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620749 Pcdha10 protocadherin alpha 10 gene DOID:10283 prostate cancer ISO RGD:1352620 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620749 Pcdha10 protocadherin alpha 10 gene DOID:10487 Hirschsprung's disease ISO RGD:1352620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620749 Pcdha10 protocadherin alpha 10 gene DOID:2228 thrombocytosis ISO RGD:1352620 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 620749 Pcdha10 protocadherin alpha 10 gene DOID:630 genetic disease ISO RGD:1352620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620749 Pcdha10 protocadherin alpha 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352620 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620749 Pcdha10 protocadherin alpha 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62075 Rpn2 ribophorin II gene DOID:2234 focal epilepsy ISO RGD:732277 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 62075 Rpn2 ribophorin II gene DOID:5212 congenital disorder of glycosylation ISO RGD:732277 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 62075 Rpn2 ribophorin II gene DOID:630 genetic disease ISO RGD:732277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 62075 Rpn2 ribophorin II gene DOID:9002304 Prostatic Neoplasms ISO RGD:732277 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 62075 Rpn2 ribophorin II gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:732277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 620750 Pcdha12 protocadherin alpha 12 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345752 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620750 Pcdha12 protocadherin alpha 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620750 Pcdha12 protocadherin alpha 12 gene DOID:10487 Hirschsprung's disease ISO RGD:1345752 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620750 Pcdha12 protocadherin alpha 12 gene DOID:630 genetic disease ISO RGD:1345752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620750 Pcdha12 protocadherin alpha 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345752 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620750 Pcdha12 protocadherin alpha 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345752 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 620750 Pcdha12 protocadherin alpha 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620751 Pcdha13 protocadherin alpha 13 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1342552 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620751 Pcdha13 protocadherin alpha 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620751 Pcdha13 protocadherin alpha 13 gene DOID:10487 Hirschsprung's disease ISO RGD:1342552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 620751 Pcdha13 protocadherin alpha 13 gene DOID:630 genetic disease ISO RGD:1342552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620751 Pcdha13 protocadherin alpha 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342552 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620751 Pcdha13 protocadherin alpha 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620751 Pcdha13 protocadherin alpha 13 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1342552 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:736637 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21185810|PMID:25304492 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:7240710 20130221 OMIM 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 PMID:12970144|PMID:15030995|PMID:16199547|PMID:19175828|PMID:20522910|PMID:21185810|PMID:23679950|PMID:25741868|PMID:28492532|PMID:8707100 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:2352 hemochromatosis ISO RGD:736637 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18624455 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736637 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620752 Akr1d1 aldo-keto reductase family 1, member D1 gene DOID:630 genetic disease ISO RGD:736637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620753 Crcp CGRP receptor component gene DOID:11446 sciatic neuropathy IEP D RGD:727768|PMID:12895509 20150206 RGD 620753 Crcp CGRP receptor component gene DOID:14755 argininosuccinic aciduria ISO RGD:1601760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 620753 Crcp CGRP receptor component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601760 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620753 Crcp CGRP receptor component gene DOID:630 genetic disease ISO RGD:1601760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620753 Crcp CGRP receptor component gene DOID:9002211 Hyperalgesia IEP D RGD:727768|PMID:12895509 20150206 RGD 620754 Spata2 spermatogenesis associated 2 gene DOID:630 genetic disease ISO RGD:731260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:0050529 adult spinal muscular atrophy ISO RGD:736439 D RGD:7240710 20140723 OMIM 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:0050529 adult spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, type IV PMID:17576681|PMID:21542063|PMID:24844453|PMID:25741868|PMID:26467025|PMID:27425821|PMID:28492532|PMID:31213135|PMID:9536098 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:0050530 intermediate spinal muscular atrophy ISO RGD:736439 D RGD:7240710 20180802 OMIM 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:0050530 intermediate spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, type II PMID:10205265|PMID:10369311|PMID:11313744|PMID:11704667|PMID:12515823|PMID:14715275|PMID:15580564|PMID:17475491|PMID:17895963|PMID:18492800|PMID:19050931|PMID:20057317|PMID:21118896|PMID:21209906|PMID:21673580|PMID:21811307|PMID:21920940|PMID:22750651|PMID:22813737|PMID:22975760|PMID:23112048|PMID:24498607|PMID:24844453|PMID:25144193|PMID:25716911|PMID:25741868|PMID:26467025|PMID:27425821|PMID:33062891|PMID:33090613|PMID:33892995|PMID:9158159|PMID:9590291|PMID:9818944|PMID:9837824 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:736439 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924536 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:12376 juvenile spinal muscular atrophy ISO RGD:736439 D RGD:7240710 20190227 OMIM 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:12376 juvenile spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kugelberg-Welander disease PMID:10205265|PMID:10339583|PMID:11313744|PMID:11704667|PMID:12515823|PMID:14715275|PMID:15580564|PMID:17475491|PMID:17635841|PMID:17895963|PMID:18492800|PMID:19050931|PMID:20057317|PMID:20301526|PMID:21082361|PMID:21118896|PMID:21209906|PMID:21673580|PMID:21920940|PMID:22323744|PMID:22813737|PMID:23022347|PMID:23073312|PMID:23112048|PMID:24844453|PMID:25144193|PMID:25716911|PMID:25741868|PMID:26467025|PMID:27425821|PMID:33062891|PMID:33090613|PMID:33892995|PMID:36138164|PMID:9158159|PMID:9199562|PMID:9590291|PMID:9668169|PMID:9818944|PMID:9837824 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:12377 spinal muscular atrophy ISO RGD:736439 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:15862279|PMID:19150990|PMID:21350916|PMID:21819082|PMID:27111068 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:12377 spinal muscular atrophy ISO RGD:736439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:10205265|PMID:10500148|PMID:10556301|PMID:10679938|PMID:10732817|PMID:11078511|PMID:11572858|PMID:11839954|PMID:12374765|PMID:12833158|PMID:14715275|PMID:14749338|PMID:15580564|PMID:15975577|PMID:17049859|PMID:17576681|PMID:17635841|PMID:18155522|PMID:18572081|PMID:19050931|PMID:19663601|PMID:20442745|PMID:21362338|PMID:21542063|PMID:21584334|PMID:21673580|PMID:22994313|PMID:23022347|PMID:23615451|PMID:24844453|PMID:25144193|PMID:25572663|PMID:25741868|PMID:25844556|PMID:26419278|PMID:26467025|PMID:26509018|PMID:26606804|PMID:27425821|PMID:27481219|PMID:28492532|PMID:30006696|PMID:31213135|PMID:31301241|PMID:32552676|PMID:32812185|PMID:33892995|PMID:7813012|PMID:9536098|PMID:9590291 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:12377 spinal muscular atrophy ISO RGD:736439 D RGD:9831153|PMID:7813012 19990101 RGD DNA:mutations:multiple (human) 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:736439 D RGD:7240710 20180530 OMIM 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:736439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Werdnig-Hoffmann disease PMID:10205265|PMID:10500148|PMID:10556301|PMID:10679938|PMID:10732817|PMID:11078511|PMID:11313744|PMID:11572858|PMID:12374765|PMID:12833158|PMID:14715275|PMID:14749338|PMID:15249625|PMID:15580564|PMID:15975577|PMID:16301532|PMID:17049859|PMID:17635841|PMID:17998247|PMID:18155522|PMID:18172693|PMID:19050931|PMID:21209906|PMID:21329463|PMID:21584334|PMID:21673580|PMID:22101937|PMID:23136128|PMID:23615451|PMID:25144193|PMID:25525159|PMID:25741868|PMID:25844556|PMID:26467025|PMID:26509018|PMID:26606804|PMID:27425821|PMID:28570645|PMID:29982416|PMID:31156382|PMID:31301241|PMID:7813012|PMID:8922999|PMID:9147655|PMID:9158159|PMID:9590291 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:13938 amenorrhea ISO RGD:736439 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736439 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620755 Smn1 survival of motor neuron 1, telomeric gene DOID:9006030 Infant Death ISO RGD:736439 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27111068 620756 Cirbp cold inducible RNA binding protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 620756 Cirbp cold inducible RNA binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:1343841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 620756 Cirbp cold inducible RNA binding protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620756 Cirbp cold inducible RNA binding protein gene DOID:630 genetic disease ISO RGD:1343841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620756 Cirbp cold inducible RNA binding protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1343841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 620756 Cirbp cold inducible RNA binding protein gene DOID:9007102 Myocardial Ischemia ISO RGD:1343841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620756 Cirbp cold inducible RNA binding protein gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:1343841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0050444 infantile Refsum disease ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:731687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9090384 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:7240710 20141015 OMIM 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:33123925|PMID:9090384|PMID:9354782|PMID:9536098|PMID:9632816|PMID:9792857 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:7240710 20180425 OMIM 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:2122101|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:630 genetic disease ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9090384|PMID:26319495 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9632816|PMID:9792857 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 620757 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 620758 Snai1 snail family transcriptional repressor 1 gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 620758 Snai1 snail family transcriptional repressor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620758 Snai1 snail family transcriptional repressor 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1553692 D RGD:13592920 20180518 MouseDO 620758 Snai1 snail family transcriptional repressor 1 gene DOID:13580 cholestasis ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 620758 Snai1 snail family transcriptional repressor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1347076 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 620758 Snai1 snail family transcriptional repressor 1 gene DOID:4159 skin cancer ISS RGD:1553692 D RGD:13592920 20180913 MouseDO 620758 Snai1 snail family transcriptional repressor 1 gene DOID:5199 ureteral obstruction ISO RGD:1347076 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 620758 Snai1 snail family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1347076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:23219715 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:24014025 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:24014025 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9256 colorectal cancer treatment ISO RGD:1347076 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 620758 Snai1 snail family transcriptional repressor 1 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1347076 D RGD:151356661|PMID:28939076 20220209 RGD 620759 Gnb5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:7240710 20190315 OMIM 620759 Gnb5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome PMID:21766168|PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:28492532|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:32203251|PMID:32280589|PMID:32987464|PMID:33172956|PMID:33176815 620759 Gnb5 G protein subunit beta 5 gene DOID:0111406 Fraser syndrome 3 ISO RGD:731985 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 620759 Gnb5 G protein subunit beta 5 gene DOID:2717 Bloom syndrome ISO RGD:731985 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620759 Gnb5 G protein subunit beta 5 gene DOID:607 paraplegia ISO RGD:731985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 620759 Gnb5 G protein subunit beta 5 gene DOID:630 genetic disease ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21766168|PMID:25741868|PMID:27523599|PMID:27677260|PMID:28492532|PMID:30631341|PMID:31130284|PMID:31631344|PMID:33172956|PMID:33176815 620759 Gnb5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:7240710 20190315 OMIM 620759 Gnb5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815 620759 Gnb5 G protein subunit beta 5 gene DOID:9008086 Developmental Disabilities ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33172956|PMID:33176815 620759 Gnb5 G protein subunit beta 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731985 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 620759 Gnb5 G protein subunit beta 5 gene DOID:9256 colorectal cancer ISO RGD:731985 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 62076 Ptges prostaglandin E synthase gene DOID:0060041 autism spectrum disorder ISO RGD:69032 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 62076 Ptges prostaglandin E synthase gene DOID:0060074 ductal carcinoma in situ ISO RGD:69032 D RGD:2300083|PMID:16353170 20080903 RGD protein:increased expression:breast 62076 Ptges prostaglandin E synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 62076 Ptges prostaglandin E synthase gene DOID:11111 hydronephrosis ISO RGD:69032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22430074|PMID:25015655 62076 Ptges prostaglandin E synthase gene DOID:11624 penile benign neoplasm ISO RGD:69032 D RGD:2300087|PMID:14871981 20080903 RGD protein:increased expression:penis, skin 62076 Ptges prostaglandin E synthase gene DOID:13976 peptic esophagitis IEP D RGD:2300085|PMID:16210398 20080903 RGD protein:increased expression:esophagus 62076 Ptges prostaglandin E synthase gene DOID:2152 ovary epithelial cancer ISO RGD:69032 D RGD:2300080|PMID:17107625 20080903 RGD protein:increased expression:ovary 62076 Ptges prostaglandin E synthase gene DOID:2615 papilloma IEP D RGD:1642457|PMID:16621493 20080903 RGD mRNA:increased expression:urinary bladder 62076 Ptges prostaglandin E synthase gene DOID:2671 transitional cell carcinoma IEP D RGD:1642457|PMID:16621493 20080903 RGD mRNA:increased expression:urinary bladder 62076 Ptges prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:69032 D RGD:2300088|PMID:14499677 20080903 RGD protein:increased expression:urinary bladder 62076 Ptges prostaglandin E synthase gene DOID:2870 endometrial adenocarcinoma ISO RGD:69032 D RGD:2300089|PMID:11592775 20080903 RGD protein:increased expression:endometrium 62076 Ptges prostaglandin E synthase gene DOID:289 endometriosis ISO RGD:69032 D RGD:2300079|PMID:17295901 20080903 RGD mRNA, protein:increased expression:epithelial cell 62076 Ptges prostaglandin E synthase gene DOID:326 ischemia IEP D RGD:2300116|PMID:12431630 20080905 RGD 62076 Ptges prostaglandin E synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69032 D RGD:5135302|PMID:20592629 20110719 RGD protein:increased expression:lung 62076 Ptges prostaglandin E synthase gene DOID:630 genetic disease ISO RGD:69032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62076 Ptges prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:2300087|PMID:14871981 20080903 RGD protein:increased expression:penis, skin 62076 Ptges prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:2300088|PMID:14499677 20080903 RGD protein:increased expression:urinary bladder 62076 Ptges prostaglandin E synthase gene DOID:9000972 Fever ISO RGD:69032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 62076 Ptges prostaglandin E synthase gene DOID:9002331 Knee Osteoarthritis IEP D RGD:2300093|PMID:17530714 20080904 RGD 62076 Ptges prostaglandin E synthase gene DOID:9002457 Experimental Arthritis IEP D RGD:2300108|PMID:12707354 20080904 RGD mRNA, protein:increased expression:paw 62076 Ptges prostaglandin E synthase gene DOID:9004009 Reperfusion Injury IEP D RGD:2300116|PMID:12431630 20080905 RGD 62076 Ptges prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62368 D RGD:2300094|PMID:16864802 20080904 RGD 62076 Ptges prostaglandin E synthase gene DOID:9005274 Polyuria ISO RGD:69032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19692487 62076 Ptges prostaglandin E synthase gene DOID:9005372 Inflammation IEP D RGD:2300106|PMID:15044444 20080904 RGD mRNA:increased expression:brain, paw, spinal cord 62076 Ptges prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:69032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25314295 62076 Ptges prostaglandin E synthase gene DOID:9008939 Breast Neoplasms ISO RGD:69032 D RGD:2300083|PMID:16353170 20080903 RGD protein:increased expression:breast 62076 Ptges prostaglandin E synthase gene DOID:9206 Barrett's esophagus IEP D RGD:2300107|PMID:14684572 20080904 RGD mRNA:increased expression:esophagus 620760 Plk2 polo-like kinase 2 gene DOID:10485 esophageal atresia ISO RGD:1348089 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 620760 Plk2 polo-like kinase 2 gene DOID:305 carcinoma ISO RGD:1348089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620760 Plk2 polo-like kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348089 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620760 Plk2 polo-like kinase 2 gene DOID:630 genetic disease ISO RGD:1348089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620760 Plk2 polo-like kinase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620760 Plk2 polo-like kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620760 Plk2 polo-like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348089 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620760 Plk2 polo-like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292404|PMID:12376462 20220330 RGD mRNA, protein:increased expression:mammary gland (rat) 620760 Plk2 polo-like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620760 Plk2 polo-like kinase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1348089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12897130 620761 Notch3 notch receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732750 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620761 Notch3 notch receptor 3 gene DOID:0060669 cerebral cavernous malformation ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868|PMID:28492532 620761 Notch3 notch receptor 3 gene DOID:0080109 infantile myofibromatosis ISO RGD:732750 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 620761 Notch3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:7240710 20180117 OMIM 620761 Notch3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts PMID:10227618|PMID:10371548|PMID:10712431|PMID:10716263|PMID:10802804|PMID:10854111|PMID:10969905|PMID:11102981|PMID:11486103|PMID:11559313|PMID:11571335|PMID:11706120|PMID:11715067|PMID:11755616|PMID:11757773|PMID:11771160|PMID:11784372|PMID:12136071|PMID:12146805|PMID:12196662|PMID:12395806|PMID:12482954|PMID:12721871|PMID:12754354|PMID:12810003|PMID:12821756|PMID:12821764|PMID:12861102|PMID:14714274|PMID:15229130|PMID:15350543|PMID:15364702|PMID:15378071|PMID:15694192|PMID:15776792|PMID:15827866|PMID:15834039|PMID:15857853|PMID:15981641|PMID:15995828|PMID:16009764|PMID:16193256|PMID:16256149|PMID:16580020|PMID:16717210|PMID:16730748|PMID:16791082|PMID:16864835|PMID:17122431|PMID:17135568|PMID:17218610|PMID:17323840|PMID:17389000|PMID:17390743|PMID:17729386|PMID:17761910|PMID:17879445|PMID:17879447|PMID:18386330|PMID:18386331|PMID:18765654|PMID:18803652|PMID:18948701|PMID:19006080|PMID:19043263|PMID:19080749|PMID:19174371|PMID:19180562|PMID:19242647|PMID:19245392|PMID:19252787|PMID:19293235|PMID:19359623|PMID:19417009|PMID:19488902|PMID:19528524|PMID:19539236|PMID:19542611|PMID:19576955|PMID:19683925|PMID:19825845|PMID:20038773|PMID:20071773|PMID:20167921|PMID:20169447|PMID:20301673|PMID:20851625|PMID:20857162|PMID:20935329|PMID:20981092|PMID:21078731|PMID:21345538|PMID:21387384|PMID:21448560|PMID:21555590|PMID:21616505|PMID:21737310|PMID:21786151|PMID:21852154|PMID:21940951|PMID:22006983|PMID:22019870|PMID:22053260|PMID:22082899|PMID:22153900|PMID:22159056|PMID:22206696|PMID:22218279|PMID:22367839|PMID:22373597|PMID:22623959|PMID:22664156|PMID:22688109|PMID:22795385|PMID:22878905|PMID:22936449|PMID:23025651|PMID:23028706|PMID:23064698|PMID:23412372|PMID:23584202|PMID:23602593|PMID:23623146|PMID:23639391|PMID:23649698|PMID:23844775|PMID:23847153|PMID:24033266|PMID:24086431|PMID:24139282|PMID:24344756|PMID:24425116|PMID:24480794|PMID:24840674|PMID:24844136|PMID:24886907|PMID:24929957|PMID:24936512|PMID:25033846|PMID:25260786|PMID:25326637|PMID:25344745|PMID:25412914|PMID:25578324|PMID:25604251|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25834748|PMID:25870235|PMID:25914166|PMID:25929831|PMID:25959358|PMID:25973016|PMID:25980907|PMID:25982499|PMID:26002683|PMID:26261665|PMID:26270344|PMID:26305465|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26618768|PMID:26646783|PMID:26671140|PMID:26715087|PMID:26806700|PMID:26843489|PMID:26850715|PMID:26856460|PMID:26889213|PMID:26894465|PMID:26912635|PMID:27174004|PMID:27206574|PMID:27293347|PMID:27350778|PMID:27423596|PMID:27770446|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28166811|PMID:28334938|PMID:28341077|PMID:28479817|PMID:28492532|PMID:28534048|PMID:28601945|PMID:28710804|PMID:28815929|PMID:28860774|PMID:28902129|PMID:28991717|PMID:29188607|PMID:29363903|PMID:29449082|PMID:29980472|PMID:30031255|PMID:30032161|PMID:30076350|PMID:30199759|PMID:30279455|PMID:30311053|PMID:30338453|PMID:30355220|PMID:30402942|PMID:30532056|PMID:30656190|PMID:30906334|PMID:30954774|PMID:30956055|PMID:31028544|PMID:31212292|PMID:31418856|PMID:31443546|PMID:31554780|PMID:31792094|PMID:31799216|PMID:31813735|PMID:31915071|PMID:31960911|PMID:31998484|PMID:32055601|PMID:32122318|PMID:32128266|PMID:32172663|PMID:32196841|PMID:32277177|PMID:32387185|PMID:32457593|PMID:32552418|PMID:32573853|PMID:32581362|PMID:32612778|PMID:32732295|PMID:33013620|PMID:33020014|PMID:33091750|PMID:33109952|PMID:33268848|PMID:33310205|PMID:33712516|PMID:33942994|PMID:34008892|PMID:34335700|PMID:34841502|PMID:3484396|PMID:34851492|PMID:8878478|PMID:9388399 620761 Notch3 notch receptor 3 gene DOID:0111036 CADASIL2 ISO RGD:732750 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 PMID:28492532 620761 Notch3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:7240710 20171011 OMIM 620761 Notch3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lateral meningocele syndrome PMID:15666314|PMID:21337686|PMID:21448560|PMID:23696373|PMID:24086431|PMID:25394726|PMID:25741868|PMID:26467025|PMID:26754023|PMID:28492532|PMID:9188658 620761 Notch3 notch receptor 3 gene DOID:10024 migraine with aura ISO RGD:732750 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Migraine with aura PMID:32581362 620761 Notch3 notch receptor 3 gene DOID:10283 prostate cancer ISO RGD:732750 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:15364702|PMID:16328531|PMID:23265383|PMID:25033846|PMID:26308724|PMID:26467025|PMID:7732783 620761 Notch3 notch receptor 3 gene DOID:12783 migraine without aura ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine without aura PMID:12754354|PMID:15229130|PMID:15857853|PMID:20071773|PMID:21940951|PMID:24425116|PMID:24886907|PMID:25412914|PMID:25741868|PMID:26467025|PMID:28334938|PMID:28492532|PMID:31418856|PMID:32277177|PMID:32581362|PMID:34335700|PMID:8878478|PMID:9388399 620761 Notch3 notch receptor 3 gene DOID:13945 CADASIL ISO RGD:732750 D RGD:11554173 20180123 CTD CTD Direct Evidence: marker/mechanism 620761 Notch3 notch receptor 3 gene DOID:13945 CADASIL ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type PMID:10371548|PMID:11102981|PMID:11559313|PMID:14714274|PMID:15229130|PMID:15694192|PMID:15834039|PMID:16009764|PMID:16580020|PMID:16717210|PMID:17135568|PMID:19153638|PMID:19242647|PMID:19252787|PMID:19293235|PMID:20038773|PMID:20301673|PMID:20935329|PMID:20975277|PMID:21852154|PMID:22082899|PMID:22259617|PMID:23602593|PMID:23847153|PMID:24139282|PMID:24344756|PMID:24480794|PMID:24840674|PMID:25033846|PMID:25344745|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25914166|PMID:25959358|PMID:26002683|PMID:26270344|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26671140|PMID:27245348|PMID:27881154|PMID:27890607|PMID:28334938|PMID:28492532|PMID:28555127|PMID:29544907|PMID:29980472|PMID:30199759|PMID:30311053|PMID:30656190|PMID:30906334|PMID:31554780|PMID:31792094|PMID:31836585|PMID:31915071|PMID:32055601|PMID:32122318|PMID:32277177|PMID:32457593|PMID:32573853|PMID:33712516|PMID:34352628|PMID:35300531|PMID:8878478 620761 Notch3 notch receptor 3 gene DOID:1596 depressive disorder ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Depression PMID:15364702|PMID:16009764|PMID:21616505|PMID:28492532|PMID:32581362 620761 Notch3 notch receptor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:732750 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 620761 Notch3 notch receptor 3 gene DOID:1826 epilepsy ISO RGD:732750 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 620761 Notch3 notch receptor 3 gene DOID:3007 breast ductal carcinoma ISO RGD:732750 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 620761 Notch3 notch receptor 3 gene DOID:3068 glioblastoma ISO RGD:732750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 620761 Notch3 notch receptor 3 gene DOID:3526 cerebral infarction ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10371548|PMID:10802804|PMID:10854111|PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:16193256|PMID:17729386|PMID:20301673|PMID:24844136|PMID:25578324|PMID:25623805|PMID:25741868|PMID:25973016|PMID:26308724|PMID:26467025|PMID:26715087|PMID:26843489|PMID:26912635|PMID:27206574|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31915071|PMID:32457593|PMID:32581362|PMID:9388399 620761 Notch3 notch receptor 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 620761 Notch3 notch receptor 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732750 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 620761 Notch3 notch receptor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 620761 Notch3 notch receptor 3 gene DOID:630 genetic disease ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14714274|PMID:19539236|PMID:19855400|PMID:20167921|PMID:22495309|PMID:24000151|PMID:24840674|PMID:24936512|PMID:25394726|PMID:25741868|PMID:25870235|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28166811|PMID:28492532|PMID:30032161|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502 620761 Notch3 notch receptor 3 gene DOID:6364 migraine ISO RGD:732750 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 620761 Notch3 notch receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732750 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 620761 Notch3 notch receptor 3 gene DOID:8725 vascular dementia ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:14714274|PMID:15364702|PMID:16009764|PMID:24840674|PMID:25033846|PMID:25741868|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28492532|PMID:30032161|PMID:30402942|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502 620761 Notch3 notch receptor 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732750 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:22006983|PMID:22153900|PMID:22159056|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26894465|PMID:28492532 620761 Notch3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:7240710 20140911 OMIM 620761 Notch3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 PMID:23731542|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32732295 620761 Notch3 notch receptor 3 gene DOID:9003208 Progressive Psychomotor Deterioration ISO RGD:732750 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Progressive psychomotor deterioration PMID:32581362 620761 Notch3 notch receptor 3 gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732750 D RGD:8554872 20141209 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:23731542 620761 Notch3 notch receptor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:732750 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 620761 Notch3 notch receptor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:732750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 620761 Notch3 notch receptor 3 gene DOID:9005600 Infarction TAS D RGD:632418|PMID:11925448 19990101 RGD 620761 Notch3 notch receptor 3 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:625426|PMID:11971902 19990101 RGD 620761 Notch3 notch receptor 3 gene DOID:9007096 Stroke ISO RGD:732750 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26467025|PMID:27844030|PMID:28492532|PMID:32581362 620761 Notch3 notch receptor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 620761 Notch3 notch receptor 3 gene DOID:9952 acute lymphoblastic leukemia ISS RGD:1552400 D RGD:13592920 20180518 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 620762 Trpm8 transient receptor potential cation channel, subfamily M, member 8 gene DOID:0060476 Perlman syndrome ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 620762 Trpm8 transient receptor potential cation channel, subfamily M, member 8 gene DOID:0110991 Joubert syndrome 22 ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 620762 Trpm8 transient receptor potential cation channel, subfamily M, member 8 gene DOID:12783 migraine without aura ISO RGD:732182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 620762 Trpm8 transient receptor potential cation channel, subfamily M, member 8 gene DOID:630 genetic disease ISO RGD:732182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620762 Trpm8 transient receptor potential cation channel, subfamily M, member 8 gene DOID:6364 migraine ISO RGD:732182 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 620763 Ccn1 cellular communication network factor 1 gene DOID:0050651 atrioventricular septal defect ISS RGD:731721 D RGD:13592920 20180518 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 620763 Ccn1 cellular communication network factor 1 gene DOID:0110106 atrial heart septal defect 1 ISS RGD:731721 D RGD:13592920 20180518 MouseDO OMIM:108800 620763 Ccn1 cellular communication network factor 1 gene DOID:418 systemic scleroderma ISO RGD:731720 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 620763 Ccn1 cellular communication network factor 1 gene DOID:630 genetic disease ISO RGD:731720 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620763 Ccn1 cellular communication network factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17699798 620763 Ccn1 cellular communication network factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620763 Ccn1 cellular communication network factor 1 gene DOID:9002457 Experimental Arthritis ameliorates IMP D RGD:150429754|PMID:27653023 20210924 RGD 620763 Ccn1 cellular communication network factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731720 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 620764 Yme1l1 YME1-like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:7240710 20190315 OMIM 620764 Yme1l1 YME1-like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic atrophy 11 PMID:25741868|PMID:27495975|PMID:28492532 620764 Yme1l1 YME1-like 1 ATPase gene DOID:10907 microcephaly ISO RGD:733459 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620764 Yme1l1 YME1-like 1 ATPase gene DOID:12930 dilated cardiomyopathy ISS RGD:733460 D RGD:13592920 20211125 MouseDO 620764 Yme1l1 YME1-like 1 ATPase gene DOID:2843 long QT syndrome ISO RGD:733459 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620764 Yme1l1 YME1-like 1 ATPase gene DOID:630 genetic disease ISO RGD:733459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620765 Ucn2 urocortin 2 gene DOID:0060180 colitis IEP D RGD:5131259|PMID:17586086 20110926 RGD mRNA:increased expression:colon (rat) 620765 Ucn2 urocortin 2 gene DOID:10763 hypertension ISO RGD:1348669 D RGD:5508437|PMID:19204182 20111018 RGD human protein in rat model 620765 Ucn2 urocortin 2 gene DOID:1936 atherosclerosis ISO RGD:1348669 D RGD:5508308|PMID:16026900 20111012 RGD protein:increased expression:coronary artery, endothelium (human) 620765 Ucn2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16330704 620765 Ucn2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:5508210|PMID:12076554 20111010 RGD mRNA, protein:increased expression:myocardium (human) 620765 Ucn2 urocortin 2 gene DOID:630 genetic disease ISO RGD:1348669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620765 Ucn2 urocortin 2 gene DOID:9001109 Anorexia ISO RGD:1348669 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 620765 Ucn2 urocortin 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1348669 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 620765 Ucn2 urocortin 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 620766 Tmprss2 transmembrane serine protease 2 gene DOID:11132 prostatic hypertrophy ISO RGD:1354092 D RGD:2324904|PMID:18338334 20100514 RGD protein:increased expression:prostate gland 620766 Tmprss2 transmembrane serine protease 2 gene DOID:12849 autistic disorder ISO RGD:1354092 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:21681106|PMID:30208311 620766 Tmprss2 transmembrane serine protease 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1354092 D RGD:2324904|PMID:18338334 20100514 RGD protein:increased expression, altered localization:prostate gland 620766 Tmprss2 transmembrane serine protease 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:733656 D RGD:30309210|PMID:30626688 20200618 RGD 620767 P3h4 prolyl 3-hydroxylase family member 4 gene DOID:630 genetic disease ISO RGD:732924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620768 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:12849 autistic disorder ISO RGD:733163 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:30504930|PMID:35907405 620768 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:630 genetic disease ISO RGD:733163 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620768 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2314400|PMID:12225880 20091112 RGD 620768 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:7240710 20221207 OMIM 620768 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders PMID:25741868|PMID:30504930|PMID:35907405 620768 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9008086 Developmental Disabilities ISO RGD:733163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:35907405 620769 Ubxn11 UBX domain protein 11 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:737092 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 620769 Ubxn11 UBX domain protein 11 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:737092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 620769 Ubxn11 UBX domain protein 11 gene DOID:1324 lung cancer ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 620769 Ubxn11 UBX domain protein 11 gene DOID:5409 lung small cell carcinoma ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 620769 Ubxn11 UBX domain protein 11 gene DOID:630 genetic disease ISO RGD:737092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620769 Ubxn11 UBX domain protein 11 gene DOID:684 hepatocellular carcinoma ISO RGD:737092 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 620770 Gnaq G protein subunit alpha q gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 620770 Gnaq G protein subunit alpha q gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:7240710 20180214 OMIM 620770 Gnaq G protein subunit alpha q gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple PMID:23656586|PMID:25188413|PMID:25741868 620770 Gnaq G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23656586 620770 Gnaq G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:7240710 20141015 OMIM 620770 Gnaq G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Sturge-Weber syndrome PMID:23656586|PMID:25188413|PMID:25741868 620770 Gnaq G protein subunit alpha q gene DOID:1247 blood coagulation disease ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9296496 620770 Gnaq G protein subunit alpha q gene DOID:12930 dilated cardiomyopathy ISO RGD:1550022 D RGD:1598475|PMID:9811897 20061130 RGD 620770 Gnaq G protein subunit alpha q gene DOID:12930 dilated cardiomyopathy ISS RGD:1550022 D RGD:13592920 20180518 MouseDO 620770 Gnaq G protein subunit alpha q gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 620770 Gnaq G protein subunit alpha q gene DOID:1324 lung cancer ISO RGD:731425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 620770 Gnaq G protein subunit alpha q gene DOID:1682 congenital heart disease ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 620770 Gnaq G protein subunit alpha q gene DOID:1909 melanoma ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23432625 620770 Gnaq G protein subunit alpha q gene DOID:1909 melanoma ISO RGD:731425 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25157968|PMID:25188413|PMID:2549426|PMID:25741868 620770 Gnaq G protein subunit alpha q gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:731425 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:23656586|PMID:25188413|PMID:25741868 620770 Gnaq G protein subunit alpha q gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731425 D RGD:126781753|PMID:24518087 20210419 RGD 620770 Gnaq G protein subunit alpha q gene DOID:6000 congestive heart failure ISS RGD:1550022 D RGD:13592920 20180518 MouseDO 620770 Gnaq G protein subunit alpha q gene DOID:6000 congestive heart failure disease_progression ISO RGD:731425 D RGD:126781754|PMID:17720980 20210419 RGD DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) 620770 Gnaq G protein subunit alpha q gene DOID:6000 congestive heart failure no_association ISO RGD:731425 D RGD:126781754|PMID:17720980 20210419 RGD DNA:polymorphisms:promoter:multiple 620770 Gnaq G protein subunit alpha q gene DOID:6039 uveal melanoma ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22733540|PMID:26397223|PMID:27089179 620770 Gnaq G protein subunit alpha q gene DOID:6039 uveal melanoma ISO RGD:731425 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:25157968|PMID:2549426 620770 Gnaq G protein subunit alpha q gene DOID:630 genetic disease ISO RGD:731425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620770 Gnaq G protein subunit alpha q gene DOID:9001542 Albuminuria ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 620770 Gnaq G protein subunit alpha q gene DOID:9001616 Port-Wine Stain ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23656586 620770 Gnaq G protein subunit alpha q gene DOID:9001616 Port-Wine Stain ISO RGD:731425 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: PORT-WINE STAIN PMID:23656586|PMID:25188413|PMID:25741868 620770 Gnaq G protein subunit alpha q gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731425 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:2549426 620770 Gnaq G protein subunit alpha q gene DOID:9003936 Cardiomegaly ISO RGD:1550022 D RGD:1598475|PMID:9811897 20061130 RGD 620770 Gnaq G protein subunit alpha q gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550022 D RGD:737757|PMID:9687499 19990101 RGD 620770 Gnaq G protein subunit alpha q gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731425 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 620771 Ptpre protein tyrosine phosphatase, receptor type, E gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346203 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 620771 Ptpre protein tyrosine phosphatase, receptor type, E gene DOID:630 genetic disease ISO RGD:1346203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620772 Gtf2f2 general transcription factor IIF subunit 2 gene DOID:630 genetic disease ISO RGD:733447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620773 Apom apolipoprotein M gene DOID:0050553 JMP syndrome ISO RGD:1351807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 620773 Apom apolipoprotein M gene DOID:11372 megacolon ISO RGD:1351807 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620773 Apom apolipoprotein M gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351807 D RGD:2314241|PMID:17674965 20091106 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) 620773 Apom apolipoprotein M gene DOID:630 genetic disease ISO RGD:1351807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620773 Apom apolipoprotein M gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551634 D RGD:2314249|PMID:16516154 20091106 RGD protein:decreased secretion:plasma 620773 Apom apolipoprotein M gene DOID:9006646 Metabolic Syndrome ISO RGD:1351807 D RGD:2314236|PMID:19539616 20091106 RGD protein:decreased expression:plasma 620773 Apom apolipoprotein M gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:2314248|PMID:16572495 20091106 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) 620773 Apom apolipoprotein M gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:2314238|PMID:19007767 20091106 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) 620774 Ptprg protein tyrosine phosphatase, receptor type, G gene DOID:630 genetic disease ISO RGD:735532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620774 Ptprg protein tyrosine phosphatase, receptor type, G gene DOID:9000217 Stomach Neoplasms ISO RGD:735532 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963294 620775 Sc5d sterol-C5-desaturase gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:0080690 RASopathy ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:0111971 immunodeficiency 18 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:0111972 immunodeficiency 19 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:0111973 immunodeficiency 17 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:1059 intellectual disability ISO RGD:1351356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 620775 Sc5d sterol-C5-desaturase gene DOID:409 liver disease ISO RGD:1351356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 620775 Sc5d sterol-C5-desaturase gene DOID:5419 schizophrenia ISO RGD:1351356 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620775 Sc5d sterol-C5-desaturase gene DOID:630 genetic disease ISO RGD:1351356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620775 Sc5d sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 620775 Sc5d sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:7240710 20190315 OMIM 620775 Sc5d sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lathosterolosis PMID:12189593|PMID:12812989|PMID:24142275|PMID:25741868|PMID:28492532|PMID:30097991 620775 Sc5d sterol-C5-desaturase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351356 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620775 Sc5d sterol-C5-desaturase gene DOID:9007661 Dwarfism ISO RGD:1351356 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620776 Ptprm protein tyrosine phosphatase, receptor type, M gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347501 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 620776 Ptprm protein tyrosine phosphatase, receptor type, M gene DOID:1059 intellectual disability ISO RGD:1347501 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620776 Ptprm protein tyrosine phosphatase, receptor type, M gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1347501 D RGD:151660329|PMID:32663515 20220303 RGD protein:decreased expression:blood (human) 620776 Ptprm protein tyrosine phosphatase, receptor type, M gene DOID:5419 schizophrenia ISO RGD:1347501 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620776 Ptprm protein tyrosine phosphatase, receptor type, M gene DOID:630 genetic disease ISO RGD:1347501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:734153 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:0111214 distal spinal muscular atrophy type 5 ISO RGD:734153 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy PMID:28492532 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:1148 polydactyly ISO RGD:734153 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:630 genetic disease ISO RGD:734153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734153 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:734154 D RGD:2313594|PMID:19513530 20091002 RGD 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:9744 type 1 diabetes mellitus IDA D RGD:729710|PMID:7568143 19990101 RGD 620777 Ptprn protein tyrosine phosphatase, receptor type, N gene DOID:9744 type 1 diabetes mellitus ISO RGD:734153 D RGD:2313289|PMID:19741189 20091002 RGD 620778 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 620778 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:110 lens disease ISO RGD:734303 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24282676 620778 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:734303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345897 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:7240710 20190315 OMIM 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 PMID:25741868|PMID:26467025|PMID:29309402 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:7240710 20130221 OMIM 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 PMID:20346435|PMID:25741868|PMID:26467025 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1345897 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:28492532 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:10003 sensorineural hearing loss ISO RGD:1345897 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:630 genetic disease ISO RGD:1345897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:9004538 Hearing Loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 620779 Ptprq protein tyrosine phosphatase, receptor type, Q gene DOID:9008681 Deafness ISO RGD:1345897 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 62078 Rps3a ribosomal protein S3a gene DOID:630 genetic disease ISO RGD:1348881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620780 Ptprr protein tyrosine phosphatase, receptor type, R gene DOID:630 genetic disease ISO RGD:1348456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620781 Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344879 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620781 Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 gene DOID:12849 autistic disorder ISO RGD:1344879 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620781 Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 gene DOID:630 genetic disease ISO RGD:1344879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620781 Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734446 D RGD:155631277|PMID:18467665 20221031 RGD mRNA:altered expression:kidney (mouse) 620782 Ptpru protein tyrosine phosphatase, receptor type, U gene DOID:10763 hypertension susceptibility ISO RGD:1331918 D RGD:1642652|PMID:11086029 20071005 RGD 620782 Ptpru protein tyrosine phosphatase, receptor type, U gene DOID:10976 membranous glomerulonephritis IEP D RGD:1642654|PMID:17457373 20071005 RGD mRNA, protein:decreased expression:glomerulus 620782 Ptpru protein tyrosine phosphatase, receptor type, U gene DOID:2527 nephrosis IEP D RGD:1642654|PMID:17457373 20071005 RGD mRNA, protein:decreased expression:glomerulus 620782 Ptpru protein tyrosine phosphatase, receptor type, U gene DOID:630 genetic disease ISO RGD:1353626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620782 Ptpru protein tyrosine phosphatase, receptor type, U gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642656|PMID:16539708 20071005 RGD protein:decreased expression:glomerulus 620782 Ptpru protein tyrosine phosphatase, receptor type, U gene DOID:9007661 Dwarfism ISO RGD:1353626 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 620783 Gtpbp4 GTP binding protein 4 gene DOID:630 genetic disease ISO RGD:732875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620783 Gtpbp4 GTP binding protein 4 gene DOID:783 end stage renal disease IDA D RGD:632611|PMID:11316846 19990101 RGD 620784 Tnfsf11 TNF superfamily member 11 gene DOID:0080011 bone resorption disease ISO RGD:1347343 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:26319416 620784 Tnfsf11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:7240710 20130221 OMIM 620784 Tnfsf11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor PMID:17632511|PMID:20499338|PMID:21541994|PMID:23762088|PMID:25741868|PMID:28492532 620784 Tnfsf11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17882678 620784 Tnfsf11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:1625350|PMID:17002564 20070604 RGD 620784 Tnfsf11 TNF superfamily member 11 gene DOID:12678 hypercalcemia ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15845617 620784 Tnfsf11 TNF superfamily member 11 gene DOID:12800 mucopolysaccharidosis VI treatment IEP D RGD:39131283|PMID:21887218 20201019 RGD 620784 Tnfsf11 TNF superfamily member 11 gene DOID:13533 osteopetrosis ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632511 620784 Tnfsf11 TNF superfamily member 11 gene DOID:13533 osteopetrosis ISO RGD:1347343 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Osteopetrosis 620784 Tnfsf11 TNF superfamily member 11 gene DOID:4254 osteosclerosis ISO RGD:1347343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:20499338|PMID:21541994|PMID:25741868|PMID:28492532 620784 Tnfsf11 TNF superfamily member 11 gene DOID:5844 myocardial infarction ISO RGD:1347343 D RGD:2302363|PMID:18298349 20081215 RGD protein:increased expression:serum 620784 Tnfsf11 TNF superfamily member 11 gene DOID:630 genetic disease ISO RGD:1347343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620784 Tnfsf11 TNF superfamily member 11 gene DOID:820 myocarditis IEP D RGD:2302361|PMID:18417124 20081215 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium 620784 Tnfsf11 TNF superfamily member 11 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19249596 620784 Tnfsf11 TNF superfamily member 11 gene DOID:9001004 Chronic Periodontitis ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 620784 Tnfsf11 TNF superfamily member 11 gene DOID:9001547 Tibial Fractures IEP D RGD:2302324|PMID:18592139 20081215 RGD associated with Diabetes Mellitus, Experimental 620784 Tnfsf11 TNF superfamily member 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 620784 Tnfsf11 TNF superfamily member 11 gene DOID:9006081 Osteolysis ISO RGD:1347343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18606716 620785 Tgm4 transglutaminase 4 gene DOID:4990 essential tremor ISO RGD:1343082 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 620785 Tgm4 transglutaminase 4 gene DOID:630 genetic disease ISO RGD:1343082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620786 Msh2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:7240710 20130221 OMIM 620786 Msh2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10080150|PMID:10323887|PMID:10375096|PMID:10397236|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12624141|PMID:14994245|PMID:15235030|PMID:15655560|PMID:15849733|PMID:15872200|PMID:15942939|PMID:16216036|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17250661|PMID:17312306|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18772310|PMID:19419416|PMID:19731080|PMID:20007843|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22322191|PMID:22480969|PMID:23170986|PMID:23229822|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26289772|PMID:26437257|PMID:26467025|PMID:26878173|PMID:26951660|PMID:27329137|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:33827469|PMID:34426522|PMID:7585065|PMID:7713503|PMID:8566964|PMID:8592341|PMID:9002677|PMID:9217825|PMID:9288790|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:732746 D RGD:126790556|PMID:11604476 20210426 RGD 620786 Msh2 mutS homolog 2 gene DOID:0060180 colitis IEP D RGD:10412318|PMID:23883737 20151116 RGD 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19098912 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:7240710 20160330 OMIM 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33471991|PMID:33630411|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32809219|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090 620786 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:732745 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 620786 Msh2 mutS homolog 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10080150|PMID:10196371|PMID:10323887|PMID:10375096|PMID:10970186|PMID:10978353|PMID:11151427|PMID:11291077|PMID:11601928|PMID:11920650|PMID:12132870|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14580774|PMID:15235030|PMID:15365996|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15872200|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16614121|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16830052|PMID:16929514|PMID:16996571|PMID:17011982|PMID:17312306|PMID:17374836|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18772310|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19698169|PMID:19731080|PMID:20007843|PMID:21056691|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22290698|PMID:22883484|PMID:22977643|PMID:23990280|PMID:24033266|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26878173|PMID:26951660|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29302048|PMID:29489754|PMID:29575718|PMID:29731845|PMID:29887214|PMID:29889250|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31162827|PMID:31237724|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:33848333|PMID:34426522|PMID:36073783|PMID:36988593|PMID:8261515|PMID:8566964|PMID:8592341|PMID:9288790|PMID:9748699 620786 Msh2 mutS homolog 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732745 D RGD:2293513|PMID:16217293 20080602 RGD 620786 Msh2 mutS homolog 2 gene DOID:10534 stomach cancer ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10196371|PMID:10793088|PMID:10874307|PMID:11859205|PMID:11920650|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14970868|PMID:15235030|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:16143124|PMID:16451135|PMID:16639607|PMID:17312306|PMID:17414604|PMID:17453009|PMID:18033691|PMID:18781192|PMID:19459153|PMID:19698169|PMID:20223024|PMID:20587412|PMID:20591884|PMID:21239990|PMID:21590452|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22883484|PMID:23047549|PMID:24240112|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24710284|PMID:25117503|PMID:25430799|PMID:25569433|PMID:25639900|PMID:25648859|PMID:25741868|PMID:26446363|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26824983|PMID:27016151|PMID:27432916|PMID:27449771|PMID:27863258|PMID:28050010|PMID:28127413|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29752822|PMID:30044143|PMID:30376427|PMID:31054147|PMID:31207149|PMID:31857677|PMID:32068069|PMID:33015532|PMID:33357406|PMID:33471991|PMID:36073783|PMID:36988593|PMID:8062247|PMID:8261515|PMID:9288790|PMID:9634524|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:126790557|PMID:22883484 20210426 RGD associated with Lynch syndrome 620786 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:126790580|PMID:26385421 20210427 RGD DNA:mutations: :multiple 620786 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:2293502|PMID:18389386 20080602 RGD DNA:mutation 620786 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732745 D RGD:2293503|PMID:18254781 20080602 RGD protein:decreased expression:urinary bladder 620786 Msh2 mutS homolog 2 gene DOID:1115 sarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:16395668|PMID:18383312|PMID:19389263|PMID:22290698|PMID:24033266|PMID:25741868|PMID:26094658|PMID:26250988|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29458332|PMID:30093976|PMID:30131383|PMID:30998989|PMID:31391288|PMID:31569399|PMID:33357406|PMID:33471991 620786 Msh2 mutS homolog 2 gene DOID:11832 visual epilepsy IEP D RGD:2293528|PMID:10625070 20080603 RGD protein:increased expression:hippocampus, neuron 620786 Msh2 mutS homolog 2 gene DOID:12192 sigmoid colon cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:31162827 620786 Msh2 mutS homolog 2 gene DOID:12858 Huntington's disease onset ISO RGD:732746 D RGD:10412317|PMID:12554681 20151116 RGD 620786 Msh2 mutS homolog 2 gene DOID:1324 lung cancer susceptibility ISO RGD:732745 D RGD:126848798|PMID:25252909 20210503 RGD DNA:SNP: :rs2303425 (human) 620786 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22039344|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053 620786 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33746161|PMID:34347074|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8574961|PMID:8592341|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18460031|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:21879275|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30875412|PMID:30877237 620786 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31332305|PMID:31444830|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32658311|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:33746161|PMID:34178123|PMID:34347074|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8640829|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32986223|PMID:33471991|PMID:8613431|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34755017|PMID:8613431|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732745 D RGD:2293512|PMID:16252083 20080602 RGD DNA:polymorphism:cds:p.G322D 620786 Msh2 mutS homolog 2 gene DOID:1896 sigmoid neoplasm ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:31162827 620786 Msh2 mutS homolog 2 gene DOID:218 ascending colon cancer ISO RGD:732745 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:11208710|PMID:11524701|PMID:11601928|PMID:11769729|PMID:11854906|PMID:12414824|PMID:12547705|PMID:12658575|PMID:15713769|PMID:15849733|PMID:16116158|PMID:16237223|PMID:16616355|PMID:16807412|PMID:17229076|PMID:17312306|PMID:18270343|PMID:18566915|PMID:20215533|PMID:20233461|PMID:20587412|PMID:21598002|PMID:23047549|PMID:24033266|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:27013479|PMID:27601186|PMID:28492532|PMID:30521064|PMID:9311737|PMID:9718327 620786 Msh2 mutS homolog 2 gene DOID:219 colon cancer ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 620786 Msh2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:126790554|PMID:29715107 20210426 RGD DNA, mRNA:loss of heterogeneity, increased expression: :colon 620786 Msh2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:126790577|PMID:28411881 20210427 RGD 620786 Msh2 mutS homolog 2 gene DOID:219 colon cancer no_association ISO RGD:732745 D RGD:126790554|PMID:29715107 20210426 RGD DNA:SNP:intron:IVS10+12G>A (human) 620786 Msh2 mutS homolog 2 gene DOID:2394 ovarian cancer ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017 620786 Msh2 mutS homolog 2 gene DOID:2671 transitional cell carcinoma ISO RGD:732745 D RGD:126790557|PMID:22883484 20210426 RGD associated with Lynch syndrome 620786 Msh2 mutS homolog 2 gene DOID:2871 endometrial carcinoma ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12115348|PMID:12362047|PMID:14504054|PMID:15235034|PMID:15655560|PMID:15713769|PMID:15849733|PMID:1586275|PMID:15862756|PMID:15872200|PMID:16451135|PMID:17192056|PMID:17312306|PMID:17440950|PMID:17531815|PMID:17576681|PMID:17665423|PMID:18383312|PMID:18772310|PMID:18822302|PMID:20305446|PMID:21879275|PMID:23047549|PMID:23729658|PMID:24033266|PMID:24278394|PMID:24362816|PMID:25081409|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25964535|PMID:25987035|PMID:26467025|PMID:26951660|PMID:27449771|PMID:27601186|PMID:28492532|PMID:29212164|PMID:29967336|PMID:30998989|PMID:32295079|PMID:32849802|PMID:33357406|PMID:33471991|PMID:7585065|PMID:8640829|PMID:9222765|PMID:9536098|PMID:9718327|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:126848783|PMID:23787767 20210430 RGD mRNA:decreased expression:larynx 620786 Msh2 mutS homolog 2 gene DOID:3068 glioblastoma ISO RGD:732745 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25741868 620786 Msh2 mutS homolog 2 gene DOID:3070 high grade glioma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:11726306|PMID:15849733|PMID:17101317|PMID:25741868|PMID:28492532|PMID:28785832 620786 Msh2 mutS homolog 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16736289|PMID:16996571|PMID:18270343|PMID:19731080|PMID:21642682|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24549055|PMID:24851142|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27601186|PMID:28492532|PMID:28874130|PMID:30521064|PMID:31054147|PMID:31615790|PMID:33484353|PMID:8592341 620786 Msh2 mutS homolog 2 gene DOID:3347 osteosarcoma disease_progression ISO RGD:732745 D RGD:126848779|PMID:25503122 20210430 RGD 620786 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma ISO RGD:732745 D RGD:2293507|PMID:16996262 20080602 RGD protein:decreased expression:breast 620786 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10023327|PMID:10051005|PMID:10413423|PMID:10446963|PMID:10978353|PMID:11291077|PMID:11601928|PMID:11726306|PMID:11920650|PMID:12112654|PMID:12352241|PMID:12522549|PMID:12624141|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16203774|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18460031|PMID:18566915|PMID:18772310|PMID:18951462|PMID:18951465|PMID:19130300|PMID:19267393|PMID:19419416|PMID:19459153|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20672385|PMID:20682701|PMID:21120944|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23329266|PMID:23760103|PMID:24033266|PMID:24040339|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24362816|PMID:24415873|PMID:24728327|PMID:24933000|PMID:25025451|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26096739|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26951660|PMID:27328445|PMID:27601186|PMID:27606285|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28785832|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29489754|PMID:29575718|PMID:29659569|PMID:29769598|PMID:29889250|PMID:30019097|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30798936|PMID:30875412|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31332305|PMID:31444830|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32075053|PMID:32658311|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:34178123|PMID:34347074|PMID:36073783|PMID:6096739|PMID:8062247|PMID:8566964|PMID:8872463|PMID:8895729|PMID:9036882|PMID:9288790|PMID:9536098 620786 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732745 D RGD:2293524|PMID:10769643 20080603 RGD 620786 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma severity ISO RGD:732745 D RGD:2293505|PMID:17394628 20080602 RGD 620786 Msh2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:126790560|PMID:22265839 20210426 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus 620786 Msh2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:126790573|PMID:24366688 20210427 RGD DNA, protein:hypermethylation, decreased expression:esophagus 620786 Msh2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:126790574|PMID:21674174 20210427 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12702580|PMID:14756672|PMID:22102614|PMID:25701956 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:126790559|PMID:16500024 20210426 RGD DNA:missense mutation:exon:p.M688R (c.2063T>G) (human) 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11854906|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34837403|PMID:34906448|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32844218 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 620786 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome onset ISO RGD:732745 D RGD:11063948|PMID:10404063 20210427 RGD 620786 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:126848780|PMID:32211850 20210430 RGD 620786 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:126848791|PMID:16783774 20210430 RGD protein:decreased expression:lung 620786 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:126848786|PMID:28093084 20210430 RGD DNA:SNP: :rs6544991 (human) 620786 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:126848789|PMID:20145178 20210430 RGD 620786 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:126848800|PMID:20458443 20210503 RGD 620786 Msh2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma ISO RGD:732745 D RGD:11065547|PMID:16614121 20210503 RGD DNA:polymorphisms:introns:IVS10+12A>G, IVS12-6T>C (human) 620786 Msh2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma no_association ISO RGD:732745 D RGD:11065547|PMID:16614121 20210503 RGD DNA:polymorphisms:promoter, intron:-118T>C, IVS1+9G>C (human) 620786 Msh2 mutS homolog 2 gene DOID:4450 renal cell carcinoma ISO RGD:732745 D RGD:2293509|PMID:16426918 20080602 RGD protein:decreased expression:kidney 620786 Msh2 mutS homolog 2 gene DOID:4450 renal cell carcinoma ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34426522 620786 Msh2 mutS homolog 2 gene DOID:4606 bile duct cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:33357406 620786 Msh2 mutS homolog 2 gene DOID:5119 ovarian cyst ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cyst PMID:10564582|PMID:15849733|PMID:15955785|PMID:16216036|PMID:17312306|PMID:17569143|PMID:19419416|PMID:21778331|PMID:24244552|PMID:24362816|PMID:25559809|PMID:25712738|PMID:25741868|PMID:26467025|PMID:26552419|PMID:26845104|PMID:28492532|PMID:29360161|PMID:31615790|PMID:31692600|PMID:31948886|PMID:8872463 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10612827|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21520333|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9536098|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16327991|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:9298827|PMID:9559627|PMID:9611074 620786 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 620786 Msh2 mutS homolog 2 gene DOID:630 genetic disease ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620786 Msh2 mutS homolog 2 gene DOID:687 hepatoblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 620786 Msh2 mutS homolog 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:732745 D RGD:2293515|PMID:15807307 20080602 RGD protein:increased expression:uterine cervix 620786 Msh2 mutS homolog 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732745 D RGD:126848797|PMID:24459922 20210503 RGD associated with laryngeal squamous cell carcinoma 620786 Msh2 mutS homolog 2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732745 D RGD:2293516|PMID:15492498 20080602 RGD 620786 Msh2 mutS homolog 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732745 D RGD:2293506|PMID:17390069 20080602 RGD associated with Breast Neoplasms 620786 Msh2 mutS homolog 2 gene DOID:9001515 Angioma Serpiginosum, Autosomal Dominant ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioma serpiginosum, autosomal dominant PMID:25741868|PMID:28492532 620786 Msh2 mutS homolog 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19032668 620786 Msh2 mutS homolog 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732745 D RGD:2298950|PMID:17983514 20080804 RGD 620786 Msh2 mutS homolog 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10375096|PMID:10413423|PMID:15713769|PMID:15849733|PMID:16216036|PMID:17348456|PMID:19731080|PMID:20215533|PMID:21598002|PMID:24362816|PMID:24710284|PMID:26467025|PMID:26485756|PMID:28492532|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:2293504|PMID:17596548 20080602 RGD protein:decreased expression:uterine cervix 620786 Msh2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:2293515|PMID:15807307 20080602 RGD protein:increased expression:uterine cervix 620786 Msh2 mutS homolog 2 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12624141|PMID:15235030|PMID:15655560|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17312306|PMID:17473388|PMID:17569143|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18772310|PMID:19419416|PMID:19731080|PMID:20007843|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21868491|PMID:21926548|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26878173|PMID:26951660|PMID:27601186|PMID:27606285|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33630411|PMID:34426522|PMID:8566964|PMID:8592341|PMID:9288790 620786 Msh2 mutS homolog 2 gene DOID:9004271 Colonic Polyps ISO RGD:732745 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:15849733|PMID:16341550|PMID:24549055|PMID:24556621|PMID:24728189|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28492532|PMID:30877237 620786 Msh2 mutS homolog 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:732745 D RGD:2293517|PMID:15338238 20080602 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell 620786 Msh2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:7240710 20201202 OMIM 620786 Msh2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2 PMID:10190329|PMID:10196371|PMID:11809679|PMID:11920650|PMID:12549480|PMID:12658575|PMID:15235030|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16372347|PMID:16639607|PMID:18781192|PMID:19459153|PMID:19698169|PMID:21642682|PMID:22883484|PMID:24033266|PMID:24090359|PMID:24362816|PMID:25117503|PMID:25370038|PMID:25430799|PMID:25569433|PMID:25648859|PMID:25673086|PMID:25741868|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28944238|PMID:29887214|PMID:29967336|PMID:30322717|PMID:31054147|PMID:31857677|PMID:36073783|PMID:36988593|PMID:8521394 620786 Msh2 mutS homolog 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732745 D RGD:2293514|PMID:15870899 20080602 RGD protein:increased expression:vulva 620786 Msh2 mutS homolog 2 gene DOID:9006657 Colon Diverticulum ISO RGD:732745 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Colonic diverticula 620786 Msh2 mutS homolog 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34426522 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27628256|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32741062|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32741062|PMID:32849802|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694 620786 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 620786 Msh2 mutS homolog 2 gene DOID:9007150 Urogenital Neoplasms ISO RGD:732745 D RGD:2293511|PMID:16288216 20080602 RGD protein:decreased expression 620786 Msh2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:2293523|PMID:11920468 20080603 RGD 620786 Msh2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:2298951|PMID:17925543 20080805 RGD DNA, protein:mutation, decreased expression:endometrium 620786 Msh2 mutS homolog 2 gene DOID:9007998 Hydatidiform Mole, Invasive ISO RGD:732745 D RGD:2293517|PMID:15338238 20080602 RGD protein:decreased expression:mononuclear cytotrophoblast cell 620786 Msh2 mutS homolog 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 620786 Msh2 mutS homolog 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732745 D RGD:2306714|PMID:11900875 20090504 RGD 620786 Msh2 mutS homolog 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 620786 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:126790558|PMID:9470849 20210426 RGD DNA:transition:intron 620786 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:126790576|PMID:25561800 20210427 RGD DNA:SNP:2783C>A (human) 620786 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:2293519|PMID:14735197 20080602 RGD associated with Breast Neoplasms;DNA:deletion:exon 620786 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31843900|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 620786 Msh2 mutS homolog 2 gene DOID:9460 uterine corpus cancer ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11859205|PMID:21642682|PMID:36988593|PMID:9634524 620787 Slc25a27 solute carrier family 25, member 27 gene DOID:5419 schizophrenia susceptibility ISO RGD:1344458 D RGD:6482844|PMID:17066476 20120507 RGD DNA:SNPs:intron, 3' utr: (rs10807344, rs2270450) 620787 Slc25a27 solute carrier family 25, member 27 gene DOID:630 genetic disease ISO RGD:1344458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620787 Slc25a27 solute carrier family 25, member 27 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732894 D RGD:6482843|PMID:18534681 20120507 RGD protein:increased expression:spinal cord 620788 Slc6a13 solute carrier family 6 member 13 gene DOID:630 genetic disease ISO RGD:733725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620788 Slc6a13 solute carrier family 6 member 13 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733725 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 620789 Kremen1 kringle containing transmembrane protein 1 gene DOID:0111252 neurofibromatosis 2 ISO RGD:733267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 620789 Kremen1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:7240710 20190315 OMIM 620789 Kremen1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:27049303|PMID:28492532 620789 Kremen1 kringle containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:733267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620789 Kremen1 kringle containing transmembrane protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0060224 atrial fibrillation ISO RGD:731739 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:7240710 20140911 OMIM 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:16199547|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:630 genetic disease ISO RGD:731739 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:7240710 20230301 OMIM 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures PMID:16199547|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 62079 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9884 muscular dystrophy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21549339|PMID:23449775|PMID:24458321|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315 620790 Serp1 stress-associated endoplasmic reticulum protein 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1601762 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 620790 Serp1 stress-associated endoplasmic reticulum protein 1 gene DOID:630 genetic disease ISO RGD:1601762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10932188 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:7240710 20130221 OMIM 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome PMID:10932188|PMID:11559849|PMID:11756979|PMID:12893758|PMID:16195396|PMID:16674562|PMID:17089422|PMID:18223281|PMID:19132250|PMID:19715471|PMID:23560673|PMID:24560896|PMID:25741868|PMID:28492532|PMID:3035184 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0080400 orofacial cleft 7 ISO RGD:1350722 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Orofacial cleft 7 PMID:10932188|PMID:11559849 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0080690 RASopathy ISO RGD:1350722 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1350722 D RGD:1599795|PMID:10932188 20070215 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:1350722 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1350722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:674 cleft palate ISO RGD:1350722 D RGD:1599795|PMID:10932188 20070215 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:8566 herpes simplex ISO RGD:1350722 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:10729168 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:9002834 Herpesviridae Infections ISO RGD:1350722 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10932188 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350722 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1350722 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620791 Nectin1 nectin cell adhesion molecule 1 gene DOID:9296 cleft lip ISO RGD:1350722 D RGD:1599795|PMID:10932188 20070215 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 620792 Pnliprp1 pancreatic lipase-related protein 1 gene DOID:10283 prostate cancer ISO RGD:732485 D RGD:2302990|PMID:11384102 20090126 RGD 620792 Pnliprp1 pancreatic lipase-related protein 1 gene DOID:630 genetic disease ISO RGD:732485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620793 Pnliprp2 pancreatic lipase related protein 2 gene DOID:630 genetic disease ISO RGD:733600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620794 Nploc4 NPL4 homolog, ubiquitin recognition factor gene DOID:630 genetic disease ISO RGD:735438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1350530 D RGD:2315078|PMID:17060931 20091216 RGD protein:increased activity:breast 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060180 colitis ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17551092 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080199 colorectal carcinoma severity ISO RGD:1350530 D RGD:150521545|PMID:11443610 20211110 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080855 Parkinsonism IDA D RGD:1581410|PMID:16529858 19990101 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18385429 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10003 sensorineural hearing loss treatment ISO RGD:8870238 D RGD:9068941 20200609 RGD PMID:24472721|REF_RGD_ID:11554193 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:1350530 D RGD:2315077|PMID:19447874 20091216 RGD protein:increased tyrosine phosphorylation:prostate gland, membrane 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10534 stomach cancer treatment ISO RGD:1350530 D RGD:127284846|PMID:29408335 20210610 RGD human cells in mouse model 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10763 hypertension IDA D RGD:1601372|PMID:16157790 20070417 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:17093206 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1350530 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:9988270 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1520 colon carcinoma ISO RGD:1350530 D RGD:150521541|PMID:2436227 20211109 RGD protein:increased phosphorylating activity:colon mucosa 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus IDA D RGD:1581409|PMID:16600505 19990101 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1928 Williams-Beuren syndrome ISS RGD:733401 D RGD:13592920 20180518 MouseDO OMIM:194050 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer ISO RGD:1350530 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Colon cancer, advanced PMID:25157968|PMID:9988270 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:150521542|PMID:7678609 20211109 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:1601371|PMID:9988270 20070417 RGD DNA:nonsense mutation 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2234 focal epilepsy ISO RGD:1350530 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2316 brain ischemia IDA D RGD:1581411|PMID:15854740 19990101 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350530 D RGD:150520218|PMID:21282564 20211108 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1350530 D RGD:150521546|PMID:12826049 20211110 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350530 D RGD:150521546|PMID:12826049 20211110 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:4971 myelofibrosis ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:25741868|PMID:26936507|PMID:32581362 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma disease_progression IEP D RGD:150523792|PMID:8569183 20211122 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1350530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression IEP D RGD:150521543|PMID:9581679 20211109 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350530 D RGD:150521543|PMID:9581679 20211109 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon adenocarcinoma, PMID:21282564|REF_RGD_ID:150520218 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350530 D RGD:150521537|PMID:7687314 20211109 RGD associated with colorectal carcinoma;protein:increased activity:colorectum: 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733401 D RGD:1581401|PMID:15486073 19990101 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:8870238 D RGD:9068941 20200609 RGD PMID:21840347|REF_RGD_ID:11554196 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14569062 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18194989 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury IEP D RGD:2325012|PMID:20197063 20100519 RGD protein:increased phosphorylation:hippocampus CA1 (rat) 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:21291860 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression IEP D RGD:152023731|PMID:22078298 20220427 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:7240710 20190315 OMIM 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 6 PMID:25741868|PMID:26936507|PMID:32581362 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005968 Neuralgia treatment IEP D RGD:150521727|PMID:33746000 20211117 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:1580850|PMID:12819032 20080415 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1350530 D RGD:150521542|PMID:7678609 20211109 RGD associated with colon cancer;protein:increased activity:colon 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007096 Stroke IMP D RGD:2315083|PMID:19741150 20091217 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1350530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350530 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1350530 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21357651 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1350530 D RGD:2315076|PMID:19830888 20091216 RGD protein:altered localization:cytoplasm 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis ameliorates ISO RGD:1350530 D RGD:150521726|PMID:27078847 20211117 RGD associated with nasopharynx carcinoma; 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis treatment ISO RGD:1350530 D RGD:1581400|PMID:15753384 20211110 RGD associated with breast cancer; 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1350530 D RGD:7240710 20200226 OMIM 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350530 D RGD:150521726|PMID:27078847 20211117 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus IMP D RGD:2307340|PMID:19230846 20091217 RGD 620795 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350530 D RGD:1601373|PMID:15542065 20070417 RGD protein:increased tyrosine phosphorylation:platelets 620796 Srm spermidine synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 620796 Srm spermidine synthase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620796 Srm spermidine synthase gene DOID:0111936 immunodeficiency 14 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 620796 Srm spermidine synthase gene DOID:3910 lung adenocarcinoma ISO RGD:732806 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620796 Srm spermidine synthase gene DOID:630 genetic disease ISO RGD:732806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620796 Srm spermidine synthase gene DOID:9006205 Animal Disease Models ISO RGD:732806 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620796 Srm spermidine synthase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732806 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 620797 Mtnr1a melatonin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1352571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 620797 Mtnr1a melatonin receptor 1A gene DOID:12849 autistic disorder ISO RGD:1352571 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620797 Mtnr1a melatonin receptor 1A gene DOID:12858 Huntington's disease ISO RGD:1352571 D RGD:9686058|PMID:21994366 20150128 RGD mRNA:decreased expression:brain 620797 Mtnr1a melatonin receptor 1A gene DOID:12858 Huntington's disease treatment ISO RGD:734169 D RGD:9686058|PMID:21994366 20150128 RGD 620797 Mtnr1a melatonin receptor 1A gene DOID:2229 factor XI deficiency ISO RGD:1352571 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 620797 Mtnr1a melatonin receptor 1A gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:734169 D RGD:13524569|PMID:23537713 20180423 RGD protein:decreased expression:spinal chord 620797 Mtnr1a melatonin receptor 1A gene DOID:5679 retinal disease ISO RGD:1352571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21915336 620797 Mtnr1a melatonin receptor 1A gene DOID:630 genetic disease ISO RGD:1352571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620797 Mtnr1a melatonin receptor 1A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1352571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 620797 Mtnr1a melatonin receptor 1A gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2301037|PMID:16441550 20150128 RGD mRNA:increased expression:pancreas 620798 Mtnr1b melatonin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:736711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 620798 Mtnr1b melatonin receptor 1B gene DOID:1059 intellectual disability ISO RGD:736711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620798 Mtnr1b melatonin receptor 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:736711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20207350 620798 Mtnr1b melatonin receptor 1B gene DOID:2913 acute pancreatitis IMP D RGD:9588676|PMID:12510864 20141104 RGD 620798 Mtnr1b melatonin receptor 1B gene DOID:630 genetic disease ISO RGD:736711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620798 Mtnr1b melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060907|PMID:19060908|PMID:19060909|PMID:22286214|PMID:26551672 620798 Mtnr1b melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736711 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:22286214 620798 Mtnr1b melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736711 D RGD:9588652|PMID:19060908 20141104 RGD 620798 Mtnr1b melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736711 D RGD:7240710 20230505 OMIM 620799 Bnip1 BCL2 interacting protein 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 620799 Bnip1 BCL2 interacting protein 1 gene DOID:14250 Down syndrome ISO RGD:732440 D RGD:14398459|PMID:15716609 20190417 RGD mRNA:decreased expression:amniotic fluid cell: 620799 Bnip1 BCL2 interacting protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:732440 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868 620799 Bnip1 BCL2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:732440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620799 Bnip1 BCL2 interacting protein 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 62080 Cd63 Cd63 molecule gene DOID:11105 fundus albipunctatus ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11675386|PMID:11812441|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22815624|PMID:25741868|PMID:25820994|PMID:28393863|PMID:28492532|PMID:29847639|PMID:32232344 62080 Cd63 Cd63 molecule gene DOID:3407 carotid artery disease disease_progression ISO RGD:735587 D RGD:2314188|PMID:15817881 20091104 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet 62080 Cd63 Cd63 molecule gene DOID:630 genetic disease ISO RGD:735587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62080 Cd63 Cd63 molecule gene DOID:8501 fundus dystrophy ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:28492532|PMID:29847639 62080 Cd63 Cd63 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 62080 Cd63 Cd63 molecule gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 62080 Cd63 Cd63 molecule gene DOID:9007096 Stroke ISO RGD:735587 D RGD:2314182|PMID:19233449 20091104 RGD protein:increased expression:platelet 62080 Cd63 Cd63 molecule gene DOID:9743 diabetic neuropathy ISO RGD:735587 D RGD:2314203|PMID:10547212 20091105 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet 620800 Bnip3 BCL2 interacting protein 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1350913 D RGD:7483575|PMID:14648660 20131202 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350913 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 620800 Bnip3 BCL2 interacting protein 3 gene DOID:224 transient cerebral ischemia IEP D RGD:2314028|PMID:14972662 20140207 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:11561985|PMID:25888379 20161115 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:3525 middle cerebral artery infarction IEP D RGD:9685412|PMID:17379825 20161115 RGD protein:increased expression:brain 620800 Bnip3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment IEP D RGD:11561987|PMID:26093278 20161115 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:5844 myocardial infarction IEP D RGD:11557988|PMID:24427319 20161116 RGD mRNA:increased expression:plantaris 620800 Bnip3 BCL2 interacting protein 3 gene DOID:6000 congestive heart failure treatment IMP D RGD:11561982|PMID:23508759 20161115 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1350913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620800 Bnip3 BCL2 interacting protein 3 gene DOID:783 end stage renal disease IEP D RGD:11561926|PMID:24090408 20161111 RGD protein:increased expression:kidney 620800 Bnip3 BCL2 interacting protein 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350913 D RGD:11561971|PMID:16002567 20161115 RGD protein:increased expression:ileum 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11564330|PMID:23637053 20161116 RGD protein:increased expression:spinal cord 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350913 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11561988|PMID:24990154 20161115 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9000304 Manganese Poisoning ISO RGD:1350913 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19442826 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:11561986|PMID:23850688 20161115 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350913 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18163427 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11561968|PMID:23698117 20161115 RGD mRNA, protein:increased expression:kidney 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9007480 Hyperoxia IEP D RGD:5128796|PMID:20157446 20110316 RGD mRNA:decreased expression:retina 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:155260328|PMID:28661226 20220930 RGD protein:decreased expression:myocardium (human) 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:11561983|PMID:16645637 20161115 RGD 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9008217 Hemorrhage IEP D RGD:11564331|PMID:21193900 20161116 RGD protein:increased expression:heart left ventricle 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9538 multiple myeloma ISO RGD:1350913 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 620800 Bnip3 BCL2 interacting protein 3 gene DOID:9970 obesity IEP D RGD:2292682|PMID:18070754 20161115 RGD 620801 Cgref1 cell growth regulator with EF hand domain 1 gene DOID:0111680 essential fructosuria ISO RGD:1353373 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:28492532 620801 Cgref1 cell growth regulator with EF hand domain 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620801 Cgref1 cell growth regulator with EF hand domain 1 gene DOID:630 genetic disease ISO RGD:1353373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620801 Cgref1 cell growth regulator with EF hand domain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1353373 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 620802 Lat linker for activation of T cells gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1342944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620802 Lat linker for activation of T cells gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1342944 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 620802 Lat linker for activation of T cells gene DOID:0080356 IgG4-related disease ISS RGD:734455 D RGD:13592920 20191205 MouseDO 620802 Lat linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:7240710 20190315 OMIM 620802 Lat linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency PMID:25741868|PMID:27242165|PMID:27522155|PMID:28492532 620802 Lat linker for activation of T cells gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 620802 Lat linker for activation of T cells gene DOID:3602 toxic encephalopathy ISO RGD:1342944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620802 Lat linker for activation of T cells gene DOID:409 liver disease ISO RGD:1342944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620802 Lat linker for activation of T cells gene DOID:5419 schizophrenia ISO RGD:1342944 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620802 Lat linker for activation of T cells gene DOID:630 genetic disease ISO RGD:1342944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620802 Lat linker for activation of T cells gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 620803 Cgrrf1 cell growth regulator with ring finger domain 1 gene DOID:0090043 dystonia 5 ISO RGD:733810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 620803 Cgrrf1 cell growth regulator with ring finger domain 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:733810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 620803 Cgrrf1 cell growth regulator with ring finger domain 1 gene DOID:630 genetic disease ISO RGD:733810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620804 Ssb small RNA binding exonuclease protection factor La gene DOID:0080600 COVID-19 ISO RGD:1348902 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620804 Ssb small RNA binding exonuclease protection factor La gene DOID:630 genetic disease ISO RGD:1348902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620805 Gng3 G protein subunit gamma 3 gene DOID:0050788 proximal symphalangism ISO RGD:1350428 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 620805 Gng3 G protein subunit gamma 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620805 Gng3 G protein subunit gamma 3 gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1350428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 PMID:25741868 620805 Gng3 G protein subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1350428 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620805 Gng3 G protein subunit gamma 3 gene DOID:3459 breast carcinoma ISO RGD:1350428 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Breast carcinoma 620805 Gng3 G protein subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1350428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620805 Gng3 G protein subunit gamma 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350428 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 620805 Gng3 G protein subunit gamma 3 gene DOID:9351 diabetes mellitus ISO RGD:1350428 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:26467025 620806 Gng4 G protein subunit gamma 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1353997 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620806 Gng4 G protein subunit gamma 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353997 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 620806 Gng4 G protein subunit gamma 4 gene DOID:630 genetic disease ISO RGD:1353997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620806 Gng4 G protein subunit gamma 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353997 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620807 Gng5 G protein subunit gamma 5 gene DOID:630 genetic disease ISO RGD:737441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620807 Gng5 G protein subunit gamma 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620808 Gng8 G protein subunit gamma 8 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:735730 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 620808 Gng8 G protein subunit gamma 8 gene DOID:0110644 long QT syndrome 1 ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 620808 Gng8 G protein subunit gamma 8 gene DOID:409 liver disease ISO RGD:735730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620808 Gng8 G protein subunit gamma 8 gene DOID:630 genetic disease ISO RGD:735730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:7240710 20201111 OMIM 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 78 PMID:32294086|PMID:32658972 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:10003 sensorineural hearing loss IEP D RGD:7349365|PMID:23827367 20130923 RGD protein:decreased expression:cochlea: 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:34374074 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:1059 intellectual disability ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:10603 glucose intolerance ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22872759 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:10763 hypertension IDA D RGD:9587757|PMID:21814290 20141016 RGD 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:10763 hypertension IEP D RGD:1580582|PMID:15020309 19990101 RGD mRNA:increased expression:aorta 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17259435 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:11832 visual epilepsy treatment IMP D RGD:1580584|PMID:16227993 19990101 RGD 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:1287 cardiovascular system disease ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:1826 epilepsy ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18550034 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:224 transient cerebral ischemia IEP D RGD:14398833|PMID:27798271 20190503 RGD 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:305 carcinoma ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:732816 D RGD:14398833|PMID:27798271 20190503 RGD protein:increased expression:brain: 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:1580583|PMID:12535773 20150325 RGD 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:480 movement disease ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:630 genetic disease ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28940097|PMID:30740830|PMID:32754646|PMID:33345190 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:732816 D RGD:8554872 20161115 ClinVar ClinVar Annotator: match by term: Infant onset multiple organ failure 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732816 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9004538 Hearing Loss ISO RGD:732816 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:32294086|PMID:32658972 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delpire-McNeill syndrome PMID:25741868|PMID:32658972 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732816 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kilquist syndrome PMID:25741868|PMID:28492532|PMID:30740830|PMID:32658972|PMID:32754646 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 620809 Slc12a2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:62373 D RGD:151347668|PMID:30624777 20220201 RGD protein:increased expression:tongue (mouse) 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:1826 epilepsy treatment IMP D RGD:9685365|PMID:23928226 20150105 RGD 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:264 hemangiopericytoma ISO RGD:1605434 D RGD:155663351|PMID:26951238 20221110 RGD mRNA:increased expression:anterior temporal lobe 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure IEP D RGD:9685383|PMID:24397211 20150106 RGD mRNA:increased expression:kidney collecting duct (rat) 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure IEP D RGD:9685389|PMID:24325066 20150106 RGD protein:increased expression:kidney tubule (rat) 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3068 glioblastoma ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3181 oligodendroglioma ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:62373 D RGD:13524575|PMID:26067594 20180423 RGD protein:increased expression:spinal chord 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3565 meningioma ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:5199 ureteral obstruction ISO RGD:1605434 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1605434 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:8552 chronic myeloid leukemia IMP D RGD:9685380|PMID:19861684 20150106 RGD rat gene in a mouse model 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:62373 D RGD:155663348|PMID:30787185 20221110 RGD mRNA:increased expression:retina: 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:62373 D RGD:155663352|PMID:23188126 20221111 RGD 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20197467|PMID:21036696 62081 Hes1 hes family bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:62373 D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin: 620810 Rtn4r reticulon 4 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:1607007 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 620810 Rtn4r reticulon 4 receptor gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 620810 Rtn4r reticulon 4 receptor gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 620810 Rtn4r reticulon 4 receptor gene DOID:1059 intellectual disability ISO RGD:1607007 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620810 Rtn4r reticulon 4 receptor gene DOID:11198 DiGeorge syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 620810 Rtn4r reticulon 4 receptor gene DOID:11372 megacolon ISO RGD:1607007 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 620810 Rtn4r reticulon 4 receptor gene DOID:12583 velocardiofacial syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 620810 Rtn4r reticulon 4 receptor gene DOID:12849 autistic disorder ISO RGD:1607007 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620810 Rtn4r reticulon 4 receptor gene DOID:1826 epilepsy ISO RGD:1607007 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 620810 Rtn4r reticulon 4 receptor gene DOID:2213 hemorrhagic disease ISO RGD:1607007 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 620810 Rtn4r reticulon 4 receptor gene DOID:5419 schizophrenia ISO RGD:1607007 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620810 Rtn4r reticulon 4 receptor gene DOID:5419 schizophrenia ISO RGD:1607007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:15532024|PMID:21681106|PMID:30208311 620810 Rtn4r reticulon 4 receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:1607007 D RGD:7240710 20230505 OMIM 620810 Rtn4r reticulon 4 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1607007 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 620810 Rtn4r reticulon 4 receptor gene DOID:630 genetic disease ISO RGD:1607007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620810 Rtn4r reticulon 4 receptor gene DOID:9003871 Venous Thrombosis ISO RGD:1607007 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 620810 Rtn4r reticulon 4 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607007 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620810 Rtn4r reticulon 4 receptor gene DOID:9007661 Dwarfism ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 ISO RGD:731044 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 PMID:16199547|PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26333769|PMID:26528127|PMID:27436767|PMID:27535533|PMID:28492532|PMID:30763027|PMID:31104500|PMID:31618474|PMID:9536098 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 susceptibility ISO RGD:731044 D RGD:7240710 20230505 OMIM 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 PMID:24668262|PMID:24928908|PMID:25741868|PMID:26528127|PMID:27535533|PMID:28492532|PMID:31104500 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 susceptibility ISO RGD:731044 D RGD:7240710 20230505 OMIM 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:10907 microcephaly ISO RGD:731044 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:1824 status epilepticus ISO RGD:731044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20600929 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12000122|PMID:18550034 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731044 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:2234 focal epilepsy ISO RGD:731044 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:731044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:630 genetic disease ISO RGD:731044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 620811 Slc12a5 solute carrier family 12 member 5 gene DOID:9002211 Hyperalgesia ISO RGD:731044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20086212 620812 Sec14l3 SEC14-like lipid binding 3 gene DOID:630 genetic disease ISO RGD:1346355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620813 Lbr lamin B receptor gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 620813 Lbr lamin B receptor gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 620813 Lbr lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:7240710 20130221 OMIM 620813 Lbr lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia PMID:14684697|PMID:18382993|PMID:20522425|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:27336722|PMID:27830109|PMID:27875746|PMID:28492532|PMID:30448303|PMID:30518689|PMID:30561119|PMID:32827848|PMID:34567078 620813 Lbr lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:9588626|PMID:21327084 20141103 RGD DNA:mutations:cds:multiple (human) 620813 Lbr lamin B receptor gene DOID:12236 primary biliary cholangitis ISO RGD:736984 D RGD:9588625|PMID:8550049 20141103 RGD 620813 Lbr lamin B receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736984 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620813 Lbr lamin B receptor gene DOID:1702 ichthyosis vulgaris ISS RGD:732448 D RGD:13592920 20180518 MouseDO OMIM:146700 620813 Lbr lamin B receptor gene DOID:614 lymphopenia ISO RGD:732448 D RGD:11062006|PMID:22105998 20160420 RGD DNA:point mutation 620813 Lbr lamin B receptor gene DOID:630 genetic disease ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20522425|PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532 620813 Lbr lamin B receptor gene DOID:65 connective tissue disease ISO RGD:736984 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:32827848 620813 Lbr lamin B receptor gene DOID:9001031 Retrognathia ISO RGD:736984 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Retrognathia PMID:25741868|PMID:26938784 620813 Lbr lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:7240710 20130221 OMIM 620813 Lbr lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome PMID:18382993|PMID:20522425|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32827848 620813 Lbr lamin B receptor gene DOID:9006936 Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia PMID:18382993|PMID:25348816|PMID:25741868|PMID:28492532 620813 Lbr lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:7240710 20190315 OMIM 620813 Lbr lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY PMID:18382993|PMID:23824842|PMID:25348816|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549|PMID:30448303|PMID:32827848|PMID:34567078 620813 Lbr lamin B receptor gene DOID:9074 systemic lupus erythematosus ISS RGD:732448 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 620813 Lbr lamin B receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736984 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620813 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:732448 D RGD:11061939|PMID:12490533 20160420 RGD DNA:nonsense mutation, frameshift mutations 620813 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:11062007|PMID:14617022 20160420 RGD DNA:missense mutation, splice-site mutation:exon, intron:p.P119L, IVS11-9A>G (human) 620813 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:7240710 20130221 OMIM 620813 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly PMID:12118250|PMID:14617022|PMID:18382993|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26938784|PMID:27336722|PMID:27830109|PMID:28492532|PMID:30448303|PMID:32827848|PMID:34567078 620813 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly susceptibility ISO RGD:736984 D RGD:1600215|PMID:12118250 20070302 RGD DNA:splice-site mutations, frameshift mutations, nonsense mutations 620814 Hist1h4b histone cluster 1 H4 family member B gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1342673 D RGD:7240710 20220720 OMIM 620814 Hist1h4b histone cluster 1 H4 family member B gene DOID:9006342 Tessadori-van Haaften Neurodevelopmental Syndrome 4 ISO RGD:1342673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 PMID:35202563 620815 Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:630 genetic disease ISO RGD:735887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620815 Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735887 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620816 Pdcd4 programmed cell death 4 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:732159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 620816 Pdcd4 programmed cell death 4 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 620816 Pdcd4 programmed cell death 4 gene DOID:630 genetic disease ISO RGD:732159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620816 Pdcd4 programmed cell death 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:732159 D RGD:11342032|PMID:26150475 20220629 RGD mRNA:decreased expression:skin (human) 620816 Pdcd4 programmed cell death 4 gene DOID:9001820 Pulmonary Arterial Hypertension treatment IEP D RGD:156430315|PMID:30240970 20230224 RGD 620816 Pdcd4 programmed cell death 4 gene DOID:9002056 Arterial Injury IEP D RGD:9589087|PMID:20357187 20141106 RGD 620816 Pdcd4 programmed cell death 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732159 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23272133 620816 Pdcd4 programmed cell death 4 gene DOID:9005172 Lung Neoplasms ISO RGD:732159 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27323401 620816 Pdcd4 programmed cell death 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732159 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27323401|PMID:27344173|PMID:28881718 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0060536 mitochondrial complex I deficiency ISS RGD:731381 D RGD:13592920 20180518 MouseDO OMIM:252010 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731380 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:7240710 20130731 OMIM 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731380 D RGD:10053590|PMID:19332114 20150715 RGD mRNA:increased expression:left ventricle: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:731380 D RGD:8554872 20220315 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:7240710 20130221 OMIM 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:22019070|PMID:25583628|PMID:25741868|PMID:26173962|PMID:26467025|PMID:28492532 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:7240710 20151209 OMIM 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10003 sensorineural hearing loss ISO RGD:731380 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10283 prostate cancer ISO RGD:731380 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10579 leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10584 retinitis pigmentosa treatment IEP D RGD:10053563|PMID:23951212 20150714 RGD protein:increased expression:nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:1059 intellectual disability ISO RGD:731380 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731380 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731380 D RGD:10053593|PMID:22536549 20150715 RGD protein:increased expression:basal forebrain,amygdala: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731381 D RGD:10053592|PMID:24915960 20150715 RGD protein:increased expression:cortex,nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:12849 autistic disorder ISO RGD:731380 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:12858 Huntington's disease ISO RGD:731380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10047409|PMID:14526224 20150713 RGD mRNA:decreased expression, altered localization:CA1 pyramidal layer, nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:731381 D RGD:10053562|PMID:15087715 20150714 RGD protein:increased expression:nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:10047403|PMID:15181376 20150713 RGD protein:altered localization: : 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:5327 retinal detachment IEP D RGD:10047408|PMID:11290545 20150713 RGD protein:altered localization:photoreceptor,nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:731380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:574 peripheral nervous system disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:630 genetic disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:870 neuropathy ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:7240710 20191211 OMIM 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9000998 Brain Injuries IEP D RGD:10053567|PMID:12091479 20150714 RGD protein:increased expression:nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:731380 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:10053564|PMID:12871572 20150714 RGD protein:increased expression:nucleus: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13524865|PMID:28108258 20180501 RGD 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9004953 Diabetic Cystopathy IDA D RGD:10053565|PMID:20879002 20150714 RGD protein:increased expression:nuclei: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9005749 Necrosis ISO RGD:731380 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16532269 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25743375 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:10053560|PMID:23685150 20150714 RGD protein:decreased expression:mitochondrion: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731381 D RGD:10053560|PMID:23685150 20150714 RGD 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9008824 Sarcopenia severity IEP D RGD:2325745|PMID:17029665 20150715 RGD RNA:increased expression:plantaris muscle: 620817 Aifm1 apoptosis inducing factor, mitochondria associated 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 620818 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 620818 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 620818 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 620818 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733943 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620818 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:630 genetic disease ISO RGD:733943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620818 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733943 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0050777 Joubert syndrome ISO RGD:733321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733321 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:10907 microcephaly ISO RGD:733321 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:11832 visual epilepsy ISO RGD:733321 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Focal seizures 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:1826 epilepsy ISO RGD:733321 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:733321 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:630 genetic disease ISO RGD:733321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9002704 Leukoencephalopathies ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733321 D RGD:7240710 20230505 OMIM 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:733321 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 620819 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9006205 Animal Disease Models ISO RGD:733321 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 62082 Hes2 hes family bHLH transcription factor 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736308 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 62082 Hes2 hes family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:736308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62082 Hes2 hes family bHLH transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736308 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12707859 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:734925|PMID:11704758 19990101 RGD 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:731256 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1059 intellectual disability ISO RGD:731256 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:10787 premature menopause ISO RGD:731256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:29706645 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3883 Lynch syndrome ISO RGD:731256 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:5426 primary ovarian insufficiency ISO RGD:731256 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:29706645 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:630 genetic disease ISO RGD:731256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14566705|PMID:15776425|PMID:18263758|PMID:21560189|PMID:22128017|PMID:22430157|PMID:24033266|PMID:25741868|PMID:27159321|PMID:28492532|PMID:30266093 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002009 Leukoencephalopathy with Vanishing White Matter 2 ISO RGD:731256 D RGD:7240710 20230505 OMIM 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002009 Leukoencephalopathy with Vanishing White Matter 2 ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 PMID:11704758|PMID:12707859|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:20301435|PMID:21484434|PMID:21560189|PMID:22729508|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:31438897|PMID:33432707 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:731256 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25741868|PMID:26740508|PMID:27159321|PMID:28492532|PMID:29632131|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707 620820 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9006534 Nervous System Malformations ISO RGD:731256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21484434|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732190 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:630 genetic disease ISO RGD:732190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23932106|PMID:28492532 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:21484434|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:732190 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9008859 Leukoencephalopathy with Vanishing White Matter 3 ISO RGD:732190 D RGD:7240710 20230505 OMIM 620821 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9008859 Leukoencephalopathy with Vanishing White Matter 3 ISO RGD:732190 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 PMID:11835386|PMID:15776425|PMID:19158808|PMID:20301435|PMID:21484434|PMID:22312164|PMID:25079571|PMID:25761052|PMID:28492532|PMID:31418856 620822 Polr1b RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:7240710 20200722 OMIM 620822 Polr1b RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 4 PMID:25741868|PMID:31649276 620822 Polr1b RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1348858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620823 Lct lactase gene DOID:0060180 colitis IEP D RGD:1600240|PMID:17218984 20070305 RGD protein:decreased expression, increased expression:jejunum 620823 Lct lactase gene DOID:0060591 WHIM syndrome 1 ISO RGD:1344800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 620823 Lct lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:7240710 20130221 OMIM 620823 Lct lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital lactase deficiency PMID:16400612|PMID:17576681|PMID:19161632|PMID:22688420|PMID:23103231|PMID:25741868|PMID:25881162|PMID:28492532|PMID:30813293|PMID:9536098 620823 Lct lactase gene DOID:10604 lactose intolerance ISO RGD:1344800 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Lactose intolerance PMID:25741868|PMID:28492532 620823 Lct lactase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344800 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 620823 Lct lactase gene DOID:13250 diarrhea IDA D RGD:1600253|PMID:15977434 20070306 RGD 620823 Lct lactase gene DOID:630 genetic disease ISO RGD:1344800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620823 Lct lactase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1600251|PMID:16021836 20070306 RGD 620824 Polr1a RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:7240710 20170215 OMIM 620824 Polr1a RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type PMID:25741868|PMID:25913037|PMID:28492532 620824 Polr1a RNA polymerase I subunit A gene DOID:0060470 salt and pepper syndrome ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:28492532 620824 Polr1a RNA polymerase I subunit A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1345694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 620824 Polr1a RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1345694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24153182|PMID:25741868|PMID:28492532|PMID:8910400 620824 Polr1a RNA polymerase I subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1345694 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 620824 Polr1a RNA polymerase I subunit A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 620825 Fxyd3 FXYD domain-containing ion transport regulator 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 620825 Fxyd3 FXYD domain-containing ion transport regulator 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 620825 Fxyd3 FXYD domain-containing ion transport regulator 3 gene DOID:1793 pancreatic cancer ISO RGD:1348403 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16003754 620825 Fxyd3 FXYD domain-containing ion transport regulator 3 gene DOID:543 dystonia ISO RGD:1348403 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 620825 Fxyd3 FXYD domain-containing ion transport regulator 3 gene DOID:630 genetic disease ISO RGD:1348403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620825 Fxyd3 FXYD domain-containing ion transport regulator 3 gene DOID:9775 diastolic heart failure ISO RGD:1348403 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 620826 Akap1 A-kinase anchoring protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1343676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 620826 Akap1 A-kinase anchoring protein 1 gene DOID:10283 prostate cancer ISO RGD:1343676 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620826 Akap1 A-kinase anchoring protein 1 gene DOID:2316 brain ischemia IEP D RGD:2313128|PMID:18323779 20090910 RGD protein:altered expression:parietal cortex, hippocampus (rat) 620826 Akap1 A-kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1343676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620826 Akap1 A-kinase anchoring protein 1 gene DOID:9970 obesity ISO RGD:1343676 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 620827 Fxyd5 FXYD domain-containing ion transport regulator 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 620827 Fxyd5 FXYD domain-containing ion transport regulator 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 620827 Fxyd5 FXYD domain-containing ion transport regulator 5 gene DOID:543 dystonia ISO RGD:1605677 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 620827 Fxyd5 FXYD domain-containing ion transport regulator 5 gene DOID:630 genetic disease ISO RGD:1605677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620827 Fxyd5 FXYD domain-containing ion transport regulator 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605677 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732830 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:732830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 620828 Akap4 A-kinase anchoring protein 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 620828 Akap4 A-kinase anchoring protein 4 gene DOID:12336 male infertility ISO RGD:732831 D RGD:632500|PMID:12167408 19990101 RGD 620828 Akap4 A-kinase anchoring protein 4 gene DOID:12849 autistic disorder ISO RGD:732830 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620828 Akap4 A-kinase anchoring protein 4 gene DOID:630 genetic disease ISO RGD:732830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620829 Akap5 A-kinase anchoring protein 5 gene DOID:0080600 COVID-19 ISO RGD:1345297 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620829 Akap5 A-kinase anchoring protein 5 gene DOID:10652 Alzheimer's disease ISO RGD:1345297 D RGD:2313287|PMID:10460255 20090916 RGD protein:increased expression:cell soma, dendritic arbor (human) 620829 Akap5 A-kinase anchoring protein 5 gene DOID:630 genetic disease ISO RGD:1345297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620829 Akap5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11248077 620829 Akap5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:2313290|PMID:11248077 20090916 RGD human gene, mouse model 620829 Akap5 A-kinase anchoring protein 5 gene DOID:9008023 Memory Disorders ISO RGD:1345297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 620829 Akap5 A-kinase anchoring protein 5 gene DOID:9008449 Tetany IEP D RGD:2313247|PMID:12542670 20090915 RGD mRNA:increased expression:dentate gyrus (rat) 620829 Akap5 A-kinase anchoring protein 5 gene DOID:9923 developmental coordination disorder ISO RGD:1345297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050753 cerebellar ataxia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731012 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:10485 esophageal atresia ISO RGD:731012 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:1826 epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:2234 focal epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:630 genetic disease ISO RGD:731012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9003816 Macrocephaly ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007573 Flatfoot ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731012 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 62083 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9834 hyperopia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperopia PMID:25741868 620830 Fxyd7 FXYD domain-containing ion transport regulator 7 gene DOID:0110222 Brugada syndrome 5 ISO RGD:732780 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 620830 Fxyd7 FXYD domain-containing ion transport regulator 7 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 620830 Fxyd7 FXYD domain-containing ion transport regulator 7 gene DOID:543 dystonia ISO RGD:732780 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 620830 Fxyd7 FXYD domain-containing ion transport regulator 7 gene DOID:630 genetic disease ISO RGD:732780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620831 Epha5 EPH receptor A5 gene DOID:3070 high grade glioma ISO RGD:1605127 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 620831 Epha5 EPH receptor A5 gene DOID:3910 lung adenocarcinoma ISO RGD:1605127 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:16140923 620831 Epha5 EPH receptor A5 gene DOID:630 genetic disease ISO RGD:1605127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620831 Epha5 EPH receptor A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605127 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620832 Akap8 A-kinase anchoring protein 8 gene DOID:2843 long QT syndrome ISO RGD:731444 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 620832 Akap8 A-kinase anchoring protein 8 gene DOID:630 genetic disease ISO RGD:731444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0050700 cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25016126|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0060224 atrial fibrillation ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0060319 cardiac arrest ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1349720 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1349720 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349720 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0110645 long QT syndrome 2 ISO RGD:1349720 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23861362|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:7240710 20130425 OMIM 620833 Akap9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:17576681|PMID:18093912|PMID:22378279|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24467814|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26704558|PMID:27707468|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29247119|PMID:29350269|PMID:29574703|PMID:29641532|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30847666|PMID:31418098|PMID:31534214|PMID:31785789|PMID:31847883|PMID:33084842|PMID:33789662|PMID:34011629|PMID:9536098 620833 Akap9 A-kinase anchoring protein 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:16199547|PMID:17576681|PMID:18093912|PMID:23861362|PMID:24033266|PMID:24123366|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26230511|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27707468|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:29247119|PMID:29574703|PMID:30276209|PMID:30821013|PMID:30847666|PMID:31534214|PMID:32233023|PMID:33084842|PMID:9536098 620833 Akap9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 620833 Akap9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31785789|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 620833 Akap9 A-kinase anchoring protein 9 gene DOID:37 skin disease ISO RGD:1349720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 620833 Akap9 A-kinase anchoring protein 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1349720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:22584458|PMID:28492532|PMID:32233023 620833 Akap9 A-kinase anchoring protein 9 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349720 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620833 Akap9 A-kinase anchoring protein 9 gene DOID:6000 congestive heart failure ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Heart failure PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:630 genetic disease ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1349720 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349720 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:1349720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9120 amyloidosis ISO RGD:1349720 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:23861362|PMID:25741868|PMID:28492532 620833 Akap9 A-kinase anchoring protein 9 gene DOID:9256 colorectal cancer ISO RGD:1349720 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 620834 Arpc1a actin related protein 2/3 complex, subunit 1A gene DOID:1793 pancreatic cancer ISO RGD:1344294 D RGD:2317557|PMID:19145645 20100409 RGD DNA:amplification (human) 620834 Arpc1a actin related protein 2/3 complex, subunit 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344294 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620834 Arpc1a actin related protein 2/3 complex, subunit 1A gene DOID:5419 schizophrenia ISO RGD:1344294 D RGD:11571619|PMID:15098003 20161221 RGD protein:decreased expression:prefrontal cortex (human) 620834 Arpc1a actin related protein 2/3 complex, subunit 1A gene DOID:630 genetic disease ISO RGD:1344294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620835 Adgrl2 adhesion G protein-coupled receptor L2 gene DOID:10907 microcephaly ISO RGD:1331928 D RGD:13838661|PMID:30340542 20190108 RGD 620835 Adgrl2 adhesion G protein-coupled receptor L2 gene DOID:630 genetic disease ISO RGD:732054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620836 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22405201 620836 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:630 genetic disease ISO RGD:1353351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620836 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2314400|PMID:12225880 20091112 RGD 620836 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353351 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620837 Lgals3bp galectin 3 binding protein gene DOID:5082 liver cirrhosis ISO RGD:1352457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 620837 Lgals3bp galectin 3 binding protein gene DOID:630 genetic disease ISO RGD:1352457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620837 Lgals3bp galectin 3 binding protein gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347847 D RGD:8549498|PMID:19065664 20140327 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347847 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:732072 D RGD:8549563|PMID:19951958 20140328 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:1347847 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:24088041|PMID:26633545 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1347847 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347847 D RGD:2298568|PMID:18362439 20110228 RGD protein:increased expression:myocardium 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:1612 breast cancer treatment ISO RGD:1347847 D RGD:8549514|PMID:11748276 20140327 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:1612 breast cancer treatment ISO RGD:1347847 D RGD:8549557|PMID:17438063 20140328 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:1347847 D RGD:8549514|PMID:11748276 20140327 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:732072 D RGD:4146242|PMID:17182591 20110228 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:1347847 D RGD:8549521|PMID:21462799 20140327 RGD protein:increased expression:serum 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:4892646|PMID:20383033 20110228 RGD mRNA:increased expression:bronchus 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:4892649|PMID:17885690 20110228 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:1347847 D RGD:8549521|PMID:21462799 20140327 RGD protein:increased expression:serum 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:732072 D RGD:8549556|PMID:20971924 20140328 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:4481 allergic rhinitis ISO RGD:1347847 D RGD:8549521|PMID:21462799 20140327 RGD protein:increased expression:serum 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:4483 rhinitis ISO RGD:732072 D RGD:4159171|PMID:17088137 20110228 RGD 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1347847 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:552 pneumonia ISO RGD:1347847 D RGD:4890021|PMID:15161635 20110228 RGD mRNA:increased expression:lung, fibroblast 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1347847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347847 D RGD:4892612|PMID:20522789 20110225 RGD mRNA:increased expression:lung 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:9000998 Brain Injuries ISO RGD:1347847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 620838 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:9452 fatty liver disease IMP D RGD:4145478|PMID:18802068 20110228 RGD 620839 Tfpt TCF3 fusion partner gene DOID:10584 retinitis pigmentosa ISO RGD:733579 D RGD:8554872 20170214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant 620839 Tfpt TCF3 fusion partner gene DOID:630 genetic disease ISO RGD:733579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62084 Cblif cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:11049582|PMID:14695536 20160411 RGD DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human) 62084 Cblif cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:7240710 20130221 OMIM 62084 Cblif cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency PMID:14576042|PMID:14695536|PMID:15738392|PMID:16199547|PMID:17576681|PMID:19036097|PMID:20408840|PMID:21867658|PMID:22854512|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:9536098 62084 Cblif cobalamin binding intrinsic factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 62084 Cblif cobalamin binding intrinsic factor gene DOID:1059 intellectual disability ISO RGD:735662 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62084 Cblif cobalamin binding intrinsic factor gene DOID:10808 gastric ulcer ISO RGD:735662 D RGD:11049581|PMID:26485402 20160411 RGD associated with Polycythemia; mRNA:decreased expression:gastric mucosa: 62084 Cblif cobalamin binding intrinsic factor gene DOID:13381 pernicious anemia ISO RGD:735662 D RGD:11049584|PMID:4434116 20160411 RGD 62084 Cblif cobalamin binding intrinsic factor gene DOID:13381 pernicious anemia ISO RGD:735662 D RGD:11049587|PMID:167441 20160411 RGD 62084 Cblif cobalamin binding intrinsic factor gene DOID:4029 gastritis IMP D RGD:11049585|PMID:1097299 20160411 RGD 62084 Cblif cobalamin binding intrinsic factor gene DOID:5419 schizophrenia ISO RGD:735662 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 62084 Cblif cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:11049583|PMID:15738392 20160411 RGD DNA:polymorphisms, missense mutations, splice sites:exon,intron: 62084 Cblif cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:11049586|PMID:10435666 20160411 RGD protein:increased excretion:urine: 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1347066 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1347066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1347066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:12894 Sjogren's syndrome ISO RGD:1347066 D RGD:10054311|PMID:19264855 20150804 RGD 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:630 genetic disease ISO RGD:1347066 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27545675|PMID:29938792|PMID:32335897 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347066 D RGD:9685423|PMID:23633480 20150803 RGD protein:increased expression:liver (human) 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9001205 Experimental Autoimmune Orchitis IDA D RGD:1624236|PMID:16092147 20150804 RGD 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:7240710 20221102 OMIM 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects PMID:25741868|PMID:27545675|PMID:29938792|PMID:32335897 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1347066 D RGD:9999439|PMID:21194727 20150420 RGD protein:decreased expression:colonic epithelium, nucleus (human) 620840 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008950 Syndromic X-Linked Mental Retardation, Bain Type ISO RGD:1347066 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:25741868 620841 Prep prolyl endopeptidase gene DOID:10914 amnestic disorder ISO RGD:732518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8691432 620841 Prep prolyl endopeptidase gene DOID:1596 depressive disorder IEP D RGD:1626457|PMID:17415460 20211222 RGD protein:altered activity:frontal cortex, striatum, hypothalamus (rat) 620841 Prep prolyl endopeptidase gene DOID:4543 retrograde amnesia ISO RGD:732518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18318186 620841 Prep prolyl endopeptidase gene DOID:630 genetic disease ISO RGD:732518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620841 Prep prolyl endopeptidase gene DOID:9000217 Stomach Neoplasms ISO RGD:732518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 620841 Prep prolyl endopeptidase gene DOID:9000918 Disease Progression ISO RGD:732518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 620842 Gemin2 gem (nuclear organelle) associated protein 2 gene DOID:630 genetic disease ISO RGD:1351557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620842 Gemin2 gem (nuclear organelle) associated protein 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1345352 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:10966 lipoid nephrosis ISO RGD:1345352 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Lipoid nephrosis PMID:23687361|PMID:32581362 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:11836 clubfoot ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32791958|PMID:33532864 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:150 disease of mental health ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:557 kidney disease ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:576 proteinuria ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147669|PMID:20199424 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:630 genetic disease ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9000363 Hematuria ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345352 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345352 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:7240710 20201223 OMIM 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail-patella-like renal disease PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32581362|PMID:32791958|PMID:33532864 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19147669|PMID:20199424 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:1599750|PMID:9590287 20070213 RGD 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:1599751|PMID:15498463 20070213 RGD 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:7240710 20130221 OMIM 620843 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:10854116|PMID:15498463|PMID:15774843|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18414507|PMID:23687361|PMID:24042019|PMID:24720768|PMID:25741868|PMID:25898926|PMID:26380986|PMID:26560070|PMID:27450397|PMID:28059119|PMID:28335748|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29869118|PMID:30881852|PMID:32356190|PMID:32791958|PMID:33532864|PMID:9536098|PMID:9590287|PMID:9618165|PMID:9837817 620844 Apba1 amyloid beta precursor protein binding family A member 1 gene DOID:630 genetic disease ISO RGD:732461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:1059 intellectual disability ISO RGD:733396 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:12849 autistic disorder ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:1932 Angelman syndrome ISO RGD:733396 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Angelman syndrome 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:37 skin disease ISO RGD:733396 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:5419 schizophrenia ISO RGD:733396 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620845 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:630 genetic disease ISO RGD:733396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620846 Apba3 amyloid beta precursor protein binding family A member 3 gene DOID:13938 amenorrhea ISO RGD:737449 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620846 Apba3 amyloid beta precursor protein binding family A member 3 gene DOID:630 genetic disease ISO RGD:737449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347509 D RGD:11341695|PMID:22582174 20160630 RGD mRNA,protein:increased expression:lung myofibroblast: 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:11341680|PMID:14562111 20160630 RGD 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16105982 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1347509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15924153 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:1240 leukemia ISO RGD:1347509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:1793 pancreatic cancer ISO RGD:1347509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20876774 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:3770 pulmonary fibrosis ISO RGD:731977 D RGD:11341695|PMID:22582174 20160630 RGD mRNA,protein:increased expression:lung myofibroblast: 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:6000 congestive heart failure ISO RGD:1347509 D RGD:11341730|PMID:11033112 20160705 RGD mRNA,protein:increased expression:cardiomyocyte: 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:630 genetic disease ISO RGD:1347509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:8567 Hodgkin's lymphoma ISO RGD:1347509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659339 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1347509 D RGD:11341688|PMID:10623660 20160630 RGD protein:decreased expression:endothelial cell,macrophage: 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347509 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347509 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9006182 Carotid Artery Injuries disease_progression IEP D RGD:11341688|PMID:10623660 20160630 RGD 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9007480 Hyperoxia IEP D RGD:8662854|PMID:19107989 20140625 RGD protein:increased expression:cerebral cortex (rat) 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:11341714|PMID:18466417 20160701 RGD 620847 Cflar CASP8 and FADD-like apoptosis regulator gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1347509 D RGD:11341679|PMID:23167276 20160630 RGD 620849 Dut deoxyuridine triphosphatase gene DOID:14323 Marfan syndrome ISO RGD:1349758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 620849 Dut deoxyuridine triphosphatase gene DOID:2717 Bloom syndrome ISO RGD:1349758 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620849 Dut deoxyuridine triphosphatase gene DOID:630 genetic disease ISO RGD:1349758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620849 Dut deoxyuridine triphosphatase gene DOID:9002189 High Myopia ISO RGD:1349758 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 620849 Dut deoxyuridine triphosphatase gene DOID:9007502 Brain Neoplasms severity ISO RGD:1349758 D RGD:5133680|PMID:16325515 20110622 RGD protein:increased expression:tumor (human) 620849 Dut deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:7240710 20221116 OMIM 620849 Dut deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome PMID:28073829|PMID:35611808|PMID:35931051|PMID:9548420 620849 Dut deoxyuridine triphosphatase gene DOID:9256 colorectal cancer ISO RGD:1349758 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 62085 Rpl36 ribosomal protein L36 gene DOID:2661 myoepithelioma ISO RGD:736673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 620850 Nppc natriuretic peptide C gene DOID:0060476 Perlman syndrome ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 620850 Nppc natriuretic peptide C gene DOID:0080006 bone development disease ISO RGD:1351265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 620850 Nppc natriuretic peptide C gene DOID:0080006 bone development disease ISO RGD:1351265 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 620850 Nppc natriuretic peptide C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 620850 Nppc natriuretic peptide C gene DOID:10763 hypertension ISO RGD:1351265 D RGD:1580150|PMID:12452325 19990101 RGD 620850 Nppc natriuretic peptide C gene DOID:10763 hypertension severity ISO RGD:1351265 D RGD:1642292|PMID:11775888 20070910 RGD associated with Pregnancy Complications;protein:increased expression:plasma 620850 Nppc natriuretic peptide C gene DOID:114 heart disease IEP D RGD:1642294|PMID:10828832 20070910 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart 620850 Nppc natriuretic peptide C gene DOID:1222 cartilage disease ISO RGD:1351265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 620850 Nppc natriuretic peptide C gene DOID:14115 toxic shock syndrome ISO RGD:1351265 D RGD:1642297|PMID:8117275 20070910 RGD protein:increased expression:plasma 620850 Nppc natriuretic peptide C gene DOID:1712 aortic valve stenosis IEP D RGD:1642267|PMID:17709640 20070910 RGD mRNA:decreased expression:aortic valve 620850 Nppc natriuretic peptide C gene DOID:2256 osteochondrodysplasia ISS RGD:1551929 D RGD:13592920 20220519 MouseDO 620850 Nppc natriuretic peptide C gene DOID:2349 arteriosclerosis ISO RGD:1351265 D RGD:1642296|PMID:8989116 20070910 RGD 620850 Nppc natriuretic peptide C gene DOID:4480 achondroplasia ISS RGD:1551929 D RGD:13592920 20220519 MouseDO OMIM:100800 620850 Nppc natriuretic peptide C gene DOID:5199 ureteral obstruction ISO RGD:1351265 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 620850 Nppc natriuretic peptide C gene DOID:630 genetic disease ISO RGD:1351265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620850 Nppc natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:1580770|PMID:8743538 19990101 RGD protein:increased expression:plasma (human) 620850 Nppc natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:1642297|PMID:8117275 20070910 RGD protein:increased expression:plasma 620850 Nppc natriuretic peptide C gene DOID:9002362 Hyperkinesis ISO RGD:1351265 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11860464 620850 Nppc natriuretic peptide C gene DOID:9002669 Hypoxia IEP D RGD:1642268|PMID:16677483 20070910 RGD protein:increased expression:lung, plasma 620850 Nppc natriuretic peptide C gene DOID:9006257 Growth Disorders ISO RGD:1351265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 620850 Nppc natriuretic peptide C gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1580149|PMID:15337698 19990101 RGD 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:7240710 20170315 OMIM 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome PMID:22870295|PMID:23827346|PMID:24057292|PMID:24259409|PMID:25741868|PMID:30544148|PMID:32282051 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0080006 bone development disease ISS RGD:736630 D RGD:13592920 20180518 MouseDO 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0080049 acromesomelic dysplasia ISO RGD:733765 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:7240710 20130221 OMIM 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:17576681|PMID:18945719|PMID:22691581|PMID:23065701|PMID:24001744|PMID:24471569|PMID:25703509|PMID:25741868|PMID:25959430|PMID:26075495|PMID:26284228|PMID:26567084|PMID:26980729|PMID:27994189|PMID:28492532|PMID:30359775|PMID:30408610|PMID:30602027|PMID:31960617|PMID:31990356|PMID:32506268|PMID:33288834|PMID:34008892|PMID:34217350|PMID:9536098 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:733765 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:733765 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733765 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:1059 intellectual disability ISO RGD:733765 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 620851 Npr2 natriuretic peptide receptor 2 gene DOID:10825 essential hypertension ISO RGD:733765 D RGD:1580772|PMID:10082481 19990101 RGD DNA:repeat:intron:IVS2+150(GT)10-11 (human) 620851 Npr2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:1580771|PMID:15722353 19990101 RGD DNA:missense mutation:cds:p.L885R (mouse) 620851 Npr2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISS RGD:736630 D RGD:13592920 20180518 MouseDO OMIM:100800 620851 Npr2 natriuretic peptide receptor 2 gene DOID:630 genetic disease ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9000342 Familial Focal Epilepsy, with Variable Foci 2 ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:30359775|PMID:30408610|PMID:32720985 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:733765 D RGD:7240710 20170412 OMIM 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9001915 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ISO RGD:733765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:15146390|PMID:15572448|PMID:16384845|PMID:22691581|PMID:24001744|PMID:24471569|PMID:25741868|PMID:26075495|PMID:27994189|PMID:28492532|PMID:30602027|PMID:31960617|PMID:31990356 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:733765 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9007661 Dwarfism ISO RGD:733765 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:35741827 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733765 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620851 Npr2 natriuretic peptide receptor 2 gene DOID:9870 galactosemia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 620852 Klhl41 kelch-like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:7240710 20140911 OMIM 620852 Klhl41 kelch-like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 9 PMID:24268659|PMID:25558065|PMID:25741868|PMID:28492532 620852 Klhl41 kelch-like family member 41 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351992 D RGD:1580798|PMID:11583900 19990101 RGD 620852 Klhl41 kelch-like family member 41 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 620852 Klhl41 kelch-like family member 41 gene DOID:3191 nemaline myopathy ISO RGD:1351992 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:24268659|PMID:25558065 620852 Klhl41 kelch-like family member 41 gene DOID:3191 nemaline myopathy ISS RGD:1332188 D RGD:13592920 20180531 MouseDO 620852 Klhl41 kelch-like family member 41 gene DOID:630 genetic disease ISO RGD:1351992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620853 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 620853 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620853 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:630 genetic disease ISO RGD:733384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620853 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733384 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620853 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620854 Dusp5 dual specificity phosphatase 5 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1345576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 620854 Dusp5 dual specificity phosphatase 5 gene DOID:10763 hypertension ISO RGD:1345576 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25397684 620854 Dusp5 dual specificity phosphatase 5 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1622924 D RGD:243048424|PMID:30529164 20230330 RGD ApoE knockout mice 620854 Dusp5 dual specificity phosphatase 5 gene DOID:630 genetic disease ISO RGD:1345576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620854 Dusp5 dual specificity phosphatase 5 gene DOID:9000998 Brain Injuries IEP D RGD:2317873|PMID:12503083 20100428 RGD mRNA:increased expression:cerebral cortex 620854 Dusp5 dual specificity phosphatase 5 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2317872|PMID:16940436 20100428 RGD 620854 Dusp5 dual specificity phosphatase 5 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:156430318|PMID:27318893 20230224 RGD mRNA,protein:decreased expression:cardiac muscle tissue (rat) 620855 Napa NSF attachment protein alpha gene DOID:630 genetic disease ISO RGD:733353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733836 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:10923 sickle cell anemia ISO RGD:733836 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733836 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:733836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20007321 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:733836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733836 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:5419 schizophrenia ISO RGD:733836 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:733836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:733836 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:733836 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733836 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:733836 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733836 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 620856 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20007321 620857 Pla2g2a phospholipase A2 group IIA gene DOID:0060180 colitis ISO RGD:731017 D RGD:6482729|PMID:17982090 20120427 RGD 620857 Pla2g2a phospholipase A2 group IIA gene DOID:0060369 Parkinson's disease 6 ISO RGD:731016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 620857 Pla2g2a phospholipase A2 group IIA gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731016 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 620857 Pla2g2a phospholipase A2 group IIA gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 620857 Pla2g2a phospholipase A2 group IIA gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 620857 Pla2g2a phospholipase A2 group IIA gene DOID:11151 cholecystolithiasis ISO RGD:731016 D RGD:6482724|PMID:9695991 20120427 RGD 620857 Pla2g2a phospholipase A2 group IIA gene DOID:11204 allergic conjunctivitis ISO RGD:731016 D RGD:6482725|PMID:21042565 20120427 RGD protein:increased expression:body fluid or substance 620857 Pla2g2a phospholipase A2 group IIA gene DOID:11394 adult respiratory distress syndrome ISO RGD:731016 D RGD:6482717|PMID:22173044 20120426 RGD protein:increased expression:respiratory system fluid/secretion 620857 Pla2g2a phospholipase A2 group IIA gene DOID:1596 depressive disorder ISO RGD:731016 D RGD:6482716|PMID:22331023 20120426 RGD mRNA:increased expression:blood 620857 Pla2g2a phospholipase A2 group IIA gene DOID:1936 atherosclerosis ISO RGD:731016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19237014 620857 Pla2g2a phospholipase A2 group IIA gene DOID:289 endometriosis ISO RGD:731016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 620857 Pla2g2a phospholipase A2 group IIA gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731016 D RGD:6482728|PMID:18096355 20120427 RGD 620857 Pla2g2a phospholipase A2 group IIA gene DOID:630 genetic disease ISO RGD:731016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620857 Pla2g2a phospholipase A2 group IIA gene DOID:8534 gastroesophageal reflux disease ISO RGD:731016 D RGD:6482726|PMID:19672667 20120427 RGD 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9000039 Spinal Cord Injuries IEP D RGD:6482721|PMID:19306380 20120426 RGD protein:increased expression:spinal cord 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9000039 Spinal Cord Injuries ISO RGD:731017 D RGD:6482718|PMID:21868473 20120426 RGD protein:increased expression:spinal cord 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9001934 Neonatal Sepsis susceptibility ISO RGD:731016 D RGD:6482720|PMID:20463618 20120426 RGD DNA:SNP:enhancer: (rs1891320) (human) 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9002245 Intestinal Neoplasms ISO RGD:731017 D RGD:6482727|PMID:19037975 20120427 RGD 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9004009 Reperfusion Injury ISO RGD:731016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12967936 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9004610 Acute Lung Injury severity IEP D RGD:6482722|PMID:19235614 20120426 RGD 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:731016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9007102 Myocardial Ischemia ISO RGD:731016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9008443 Colorectal Neoplasms ISO RGD:731016 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:731017 D RGD:619597|PMID:7781071 19990101 RGD DNA:frameshift mutation:cds: (mouse) 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9008622 Adrenal Insufficiency IEP D RGD:6482719|PMID:21161352 20120426 RGD associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland 620857 Pla2g2a phospholipase A2 group IIA gene DOID:9256 colorectal cancer susceptibility ISO RGD:731016 D RGD:7240710 20230505 OMIM 620858 Tpra1 transmembrane protein adipocyte associated 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 620858 Tpra1 transmembrane protein adipocyte associated 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 620858 Tpra1 transmembrane protein adipocyte associated 1 gene DOID:9270 alkaptonuria ISO RGD:1354338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 620859 Axin1 axin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736564 D RGD:150530486|PMID:21393552 20211213 RGD mRNA:increased expression:oral epithelium (human) 620859 Axin1 axin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:150530474|PMID:17143481 20211209 RGD protein:decreased expression:oral epithelium (human) 620859 Axin1 axin 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 620859 Axin1 axin 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736564 D RGD:150527861|PMID:31143301 20211206 RGD DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human) 620859 Axin1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:150527862|PMID:23192643 20211206 RGD DNA:hypermethylation 620859 Axin1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:150530293|PMID:21496867 20211207 RGD protein:decreased expression:lung (human) 620859 Axin1 axin 1 gene DOID:1324 lung cancer treatment ISO RGD:736564 D RGD:150530274|PMID:23915259 20211207 RGD human cells in mouse model 620859 Axin1 axin 1 gene DOID:1324 lung cancer treatment ISO RGD:736564 D RGD:150530284|PMID:32051824 20211207 RGD human cells in mouse model 620859 Axin1 axin 1 gene DOID:1826 epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 620859 Axin1 axin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620859 Axin1 axin 1 gene DOID:219 colon cancer treatment IEP D RGD:150530464|PMID:28032729 20211208 RGD 620859 Axin1 axin 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:150530473|PMID:12771989 20211209 RGD protein:decreased expression:esophagus (human) 620859 Axin1 axin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736564 D RGD:150530290|PMID:19735876 20211207 RGD protein:decreased expression:lung (human) 620859 Axin1 axin 1 gene DOID:5082 liver cirrhosis ISO RGD:736564 D RGD:150530482|PMID:31514071 20211213 RGD protein:decreased expression:liver (human) 620859 Axin1 axin 1 gene DOID:630 genetic disease ISO RGD:736564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1552250 D RGD:150530481|PMID:22960659 20211212 RGD 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:1300371|PMID:10700176 19990101 RGD 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:7240710 20130221 OMIM 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10700176|PMID:25741868|PMID:28492532 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:14402039|PMID:26968103 20211209 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human) 620859 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:150530482|PMID:31514071 20211213 RGD protein:decreased expression:liver (human) 620859 Axin1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:7240710 20130221 OMIM 620859 Axin1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caudal duplication anomaly PMID:25741868|PMID:28492532 620859 Axin1 axin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736564 D RGD:2293188|PMID:18432252 20080520 RGD 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:10763 hypertension IAGP D RGD:61050|PMID:8094726 19990101 RGD 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:10763 hypertension IAGP D RGD:634023|PMID:8507454 19990101 RGD 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:10825 essential hypertension no_association ISO RGD:735798 D RGD:1579978|PMID:11592044 19990101 RGD 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735798 D RGD:7241283|PMID:12484505 20130308 RGD DNA:polymorphism: : 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:630 genetic disease ISO RGD:735798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:8577 ulcerative colitis ISO RGD:735798 D RGD:7241281|PMID:21987487 20130308 RGD mRNA:decreased expression:colonic mucosa 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:9002569 Overweight ISO RGD:735798 D RGD:7241282|PMID:14567496 20130308 RGD associated with Hypertension, Essential;DNA:polymorphism:intron: 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:735798 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735798 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 62086 Acsm3 acyl-CoA synthetase medium-chain family member 3 gene DOID:9282 ocular hypertension IEP D RGD:1601004|PMID:17102796 20070507 RGD mRNA, protein:increased expression:retina, muller cell 620860 Crispld2 cysteine-rich secretory protein LCCL domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605611 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 620860 Crispld2 cysteine-rich secretory protein LCCL domain containing 2 gene DOID:3602 toxic encephalopathy ISO RGD:1605611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620860 Crispld2 cysteine-rich secretory protein LCCL domain containing 2 gene DOID:409 liver disease ISO RGD:1605611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 620860 Crispld2 cysteine-rich secretory protein LCCL domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1605611 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620860 Crispld2 cysteine-rich secretory protein LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1605611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620860 Crispld2 cysteine-rich secretory protein LCCL domain containing 2 gene DOID:850 lung disease ISO RGD:1605611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21069352 620861 Copb1 COPI coat complex subunit beta 1 gene DOID:0080006 bone development disease ISO RGD:731922 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia 620861 Copb1 COPI coat complex subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:731922 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability 620861 Copb1 COPI coat complex subunit beta 1 gene DOID:630 genetic disease ISO RGD:731922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620861 Copb1 COPI coat complex subunit beta 1 gene DOID:83 cataract ISO RGD:731922 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cataract PMID:33632302 620861 Copb1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:7240710 20210414 OMIM 620861 Copb1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Baralle-Macken syndrome PMID:25741868|PMID:33632302 620862 Sycn syncollin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 620862 Sycn syncollin gene DOID:630 genetic disease ISO RGD:1604473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620862 Sycn syncollin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 620863 Tp63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:7240710 20130221 OMIM 620863 Tp63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome PMID:11462173|PMID:11528512|PMID:11929852|PMID:16114047|PMID:16724007|PMID:16740912|PMID:17041931|PMID:17224651|PMID:17431922|PMID:17576681|PMID:18603493|PMID:18626511|PMID:19530185|PMID:19781362|PMID:20543567|PMID:21204238|PMID:24309930|PMID:25741868|PMID:27469932|PMID:28492532|PMID:8456838|PMID:8737655|PMID:9443880|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15748593|PMID:19239083|PMID:19676059 620863 Tp63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:7240710 20130221 OMIM 620863 Tp63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate PMID:10535733|PMID:10839977|PMID:10886756|PMID:11462173|PMID:12525544|PMID:12766194|PMID:12939657|PMID:15200513|PMID:15983386|PMID:16740912|PMID:17576681|PMID:17609671|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19239083|PMID:19353588|PMID:19903181|PMID:20543567|PMID:21078104|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:29956718|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:11070288|PMID:19903181 20161208 RGD DNA:missense mutations: :multiple 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:11568075|PMID:15324320 20161207 RGD DNA:missense mutation:exon:p.R280C (955C>T) (human) 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:11568638|PMID:11462173 20161208 RGD DNA:frameshift mutation, missense mutations:exon:multiple 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:11568639|PMID:25983622 20161208 RGD DNA:missense mutation:exon:p.A346G (c.1037C>G) (human) 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:31050217|PMID:8737655|PMID:9443880|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:736710 D RGD:11568074|PMID:23775923 20161207 RGD DNA:missense mutation:exon:p.R318H (mouse) 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:11532814|PMID:26470833 20161208 RGD DNA:nonsense mutation: :p.Q16X (human) 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12161593 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:11568640|PMID:11903230 20161208 RGD DNA:missense mutation:exon:p.R279H (835G>A) 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:11568642|PMID:12161593 20161208 RGD DNA:missense mutations:exon:p.R280C, p.R304Q (human) 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:7240710 20130221 OMIM 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 PMID:10535733|PMID:10839977|PMID:10936828|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12838557|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:25983622|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:30655312|PMID:31050217|PMID:8737655|PMID:9028452|PMID:9443880|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 susceptibility ISO RGD:1604844 D RGD:1600403|PMID:10535733 20070307 RGD DNA:frameshift mutation, missense mutations: :multiple 620863 Tp63 tumor protein p63 gene DOID:0080006 bone development disease ISO RGD:1604844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 620863 Tp63 tumor protein p63 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1604844 D RGD:11568641|PMID:23284286 20161208 RGD DNA:deletion, insertion, SNPs: :multiple 620863 Tp63 tumor protein p63 gene DOID:0080174 bladder exstrophy ISS RGD:736710 D RGD:13592920 20180518 MouseDO OMIM:600057 620863 Tp63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:7240710 20190315 OMIM 620863 Tp63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:29500247|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:0090020 split hand-foot malformation ISO RGD:1604844 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Ectrodactyly 620863 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16688749 620863 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:11568638|PMID:11462173 20161208 RGD DNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human) 620863 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:11568644|PMID:23736768 20161208 RGD DNA:missense mutations:exon:p.R227Q (c.680G>A) (human) 620863 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:7240710 20130221 OMIM 620863 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4 PMID:10535733|PMID:10839977|PMID:12161593|PMID:12525544|PMID:15736220|PMID:16740912|PMID:17224651|PMID:17576681|PMID:18626511|PMID:18792980|PMID:20543567|PMID:21078104|PMID:21211247|PMID:21652629|PMID:23355676|PMID:23463580|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:31050217|PMID:3366140|PMID:34008892|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19239083|PMID:19676059 620863 Tp63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:11568643|PMID:11159940 20161208 RGD DNA:missense mutations:exon:multiple 620863 Tp63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:7240710 20130221 OMIM 620863 Tp63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome PMID:10886756|PMID:11159940|PMID:15200513|PMID:16740912|PMID:17576681|PMID:19239083|PMID:19353588|PMID:19793345|PMID:21615690|PMID:24309930|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9774969 620863 Tp63 tumor protein p63 gene DOID:10283 prostate cancer ISO RGD:1604844 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620863 Tp63 tumor protein p63 gene DOID:10787 premature menopause ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 620863 Tp63 tumor protein p63 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604844 D RGD:2315430|PMID:19690775 20091221 RGD 620863 Tp63 tumor protein p63 gene DOID:11514 fissured tongue ISO RGD:1604844 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Furrowed tongue PMID:25741868 620863 Tp63 tumor protein p63 gene DOID:1324 lung cancer ISO RGD:1604844 D RGD:153297750|PMID:29193083 20220721 RGD DNA:SNP:intron:rs12696594 (human) 620863 Tp63 tumor protein p63 gene DOID:13938 amenorrhea ISO RGD:1604844 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620863 Tp63 tumor protein p63 gene DOID:1749 squamous cell carcinoma ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 620863 Tp63 tumor protein p63 gene DOID:1793 pancreatic cancer ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 620863 Tp63 tumor protein p63 gene DOID:2121 ectodermal dysplasia ISO RGD:1604844 D RGD:11568633|PMID:22574117 20161208 RGD DNA:missense mutation:exon:p.K193E (577A>G) (human) 620863 Tp63 tumor protein p63 gene DOID:2671 transitional cell carcinoma ISO RGD:1604844 D RGD:2315431|PMID:18955789 20091221 RGD 620863 Tp63 tumor protein p63 gene DOID:299 adenocarcinoma ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20871597 620863 Tp63 tumor protein p63 gene DOID:305 carcinoma ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 620863 Tp63 tumor protein p63 gene DOID:3168 squamous cell neoplasm ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 620863 Tp63 tumor protein p63 gene DOID:3463 breast disease ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 620863 Tp63 tumor protein p63 gene DOID:3910 lung adenocarcinoma ISO RGD:1604844 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 620863 Tp63 tumor protein p63 gene DOID:5419 schizophrenia ISO RGD:1604844 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620863 Tp63 tumor protein p63 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 620863 Tp63 tumor protein p63 gene DOID:630 genetic disease ISO RGD:1604844 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:19353588|PMID:20180707|PMID:21652629|PMID:23355676|PMID:24734328|PMID:25741868|PMID:26882220|PMID:27028492|PMID:28492532|PMID:29130604 620863 Tp63 tumor protein p63 gene DOID:674 cleft palate ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 620863 Tp63 tumor protein p63 gene DOID:8534 gastroesophageal reflux disease ISS RGD:736710 D RGD:13592920 20180518 MouseDO OMIM:109350 620863 Tp63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:1604844 D RGD:2315434|PMID:17189982 20091221 RGD protein:decreased expression:prostate gland 620863 Tp63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 620863 Tp63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:2315433|PMID:17982114 20091221 RGD protein:decreased expression:prostate gland 620863 Tp63 tumor protein p63 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1604844 D RGD:2315435|PMID:16804722 20091221 RGD 620863 Tp63 tumor protein p63 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 620863 Tp63 tumor protein p63 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 620863 Tp63 tumor protein p63 gene DOID:9001946 Skin Abnormalities ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 620863 Tp63 tumor protein p63 gene DOID:9002170 Experimental Neoplasms ISO RGD:736710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 620863 Tp63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604844 D RGD:2315434|PMID:17189982 20091221 RGD protein:decreased expression:prostate gland 620863 Tp63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 620863 Tp63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:2315433|PMID:17982114 20091221 RGD mRNA:decreased expression:prostate gland 620863 Tp63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 620863 Tp63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:11568638|PMID:11462173 20161208 RGD DNA:deletions:exon:1693_1694delTT, 1860_1861delAA (human) 620863 Tp63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:7240710 20130221 OMIM 620863 Tp63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-mammary syndrome | ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies PMID:11462173|PMID:16740912|PMID:17576681|PMID:18627043|PMID:24309930|PMID:25741868|PMID:28492532|PMID:32067224|PMID:9536098|PMID:9774969 620863 Tp63 tumor protein p63 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 620863 Tp63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21266360 620863 Tp63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1604844 D RGD:2315432|PMID:17998283 20091221 RGD mRNA:alternative form (human) 620863 Tp63 tumor protein p63 gene DOID:9004321 Corneal Injuries ISO RGD:736710 D RGD:11568649|PMID:12167247 20161208 RGD 620863 Tp63 tumor protein p63 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1604844 D RGD:2315436|PMID:19402389 20091221 RGD 620863 Tp63 tumor protein p63 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 620863 Tp63 tumor protein p63 gene DOID:9005172 Lung Neoplasms ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20871597|PMID:21725308 620863 Tp63 tumor protein p63 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11568648|PMID:20041964 20161208 RGD protein:increased expression:prostate gland 620863 Tp63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 620863 Tp63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:11568637|PMID:20410354 20161208 RGD DNA:missense mutations:exon:p.R204Q (c.611G>A), p.R227Q (c.680G>A), p.S271T (c.812G>C) (human) 620863 Tp63 tumor protein p63 gene DOID:9006424 Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:9536098 620863 Tp63 tumor protein p63 gene DOID:9007274 Sweat Gland Neoplasms ISO RGD:1604844 D RGD:11554173 20200422 CTD CTD Direct Evidence: marker/mechanism PMID:20740144 620863 Tp63 tumor protein p63 gene DOID:9007285 Primary Ovarian Insufficiency 21 ISO RGD:1604844 D RGD:7240710 20230505 OMIM 620863 Tp63 tumor protein p63 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 620863 Tp63 tumor protein p63 gene DOID:9007653 Multiple Abnormalities ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466819 620863 Tp63 tumor protein p63 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 620863 Tp63 tumor protein p63 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 620863 Tp63 tumor protein p63 gene DOID:9008939 Breast Neoplasms ISO RGD:736710 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 620863 Tp63 tumor protein p63 gene DOID:9296 cleft lip ISO RGD:1604844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16688749 620863 Tp63 tumor protein p63 gene DOID:9296 cleft lip ISO RGD:1604844 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 620863 Tp63 tumor protein p63 gene DOID:9884 muscular dystrophy ISO RGD:1604844 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 620864 Ccnl1 cyclin L1 gene DOID:630 genetic disease ISO RGD:733406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620865 Lif LIF, interleukin 6 family cytokine gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 620865 Lif LIF, interleukin 6 family cytokine gene DOID:11612 polycystic ovary syndrome ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 620865 Lif LIF, interleukin 6 family cytokine gene DOID:219 colon cancer ameliorates ISO RGD:736774 D RGD:151356919|PMID:29899555 20220217 RGD human cells in mouse model 620865 Lif LIF, interleukin 6 family cytokine gene DOID:2316 brain ischemia IEP D RGD:2326053|PMID:20221422 20100618 RGD mRNA:increased expression:brain 620865 Lif LIF, interleukin 6 family cytokine gene DOID:6000 congestive heart failure IEP D RGD:2326058|PMID:20051627 20100618 RGD 620865 Lif LIF, interleukin 6 family cytokine gene DOID:630 genetic disease ISO RGD:736774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9001981 Weight Loss ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291613 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9002739 Female Urogenital Diseases ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9003281 Spontaneous Abortions ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9003936 Cardiomegaly ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15226216 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9004994 Embryo Loss ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23409146 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9007096 Stroke IEP D RGD:2326063|PMID:18042242 20100618 RGD 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9007456 Female Infertility ISO RGD:736774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23407384 620865 Lif LIF, interleukin 6 family cytokine gene DOID:9256 colorectal cancer disease_progression ISO RGD:736774 D RGD:151356919|PMID:29899555 20220217 RGD protein:increased expression:colon (human) 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:0060496 respiratory allergy ISO RGD:733704 D RGD:4892588|PMID:20186875 20110224 RGD 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:733704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:1909 melanoma ISO RGD:733704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:2326 gastroenteritis ISO RGD:733704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12682265 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:2841 asthma ISO RGD:733704 D RGD:4892589|PMID:19864598 20110224 RGD 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733704 D RGD:4892586|PMID:21245013 20110224 RGD 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:630 genetic disease ISO RGD:733704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:850 lung disease IEP D RGD:4892587|PMID:19766246 20110224 RGD 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1553673 D RGD:735010|PMID:12511586 20150921 RGD 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:733704 D RGD:4892590|PMID:17727088 20110224 RGD 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733704 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:9005372 Inflammation ISO RGD:733704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12682265|PMID:24795235 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:9006202 Pruritus ISO RGD:733704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19712758 620866 F2rl1 F2R like trypsin receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620868 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:1074 kidney failure IDA D RGD:13831124|PMID:10966936 20181214 RGD 620868 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:630 genetic disease ISO RGD:732597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620868 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13831126|PMID:19169727 20181214 RGD 620868 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:13831125|PMID:12042425 20181214 RGD 620868 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IDA D RGD:13831123|PMID:16711654 20181214 RGD 62087 Mapk6 mitogen-activated protein kinase 6 gene DOID:0080600 COVID-19 ISO RGD:733646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 62087 Mapk6 mitogen-activated protein kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:733646 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 62087 Mapk6 mitogen-activated protein kinase 6 gene DOID:607 paraplegia ISO RGD:733646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 62087 Mapk6 mitogen-activated protein kinase 6 gene DOID:630 genetic disease ISO RGD:733646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62087 Mapk6 mitogen-activated protein kinase 6 gene DOID:9002221 Hyperplasia ISO RGD:733646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561872 62087 Mapk6 mitogen-activated protein kinase 6 gene DOID:9256 colorectal cancer ISO RGD:733646 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620870 Hspbap1 HSPB1 associated protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1352308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 620870 Hspbap1 HSPB1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1352308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620870 Hspbap1 HSPB1 associated protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1352308 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 620870 Hspbap1 HSPB1 associated protein 1 gene DOID:9270 alkaptonuria ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 620871 F2rl2 coagulation factor II (thrombin) receptor-like 2 gene DOID:630 genetic disease ISO RGD:1348825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620871 F2rl2 coagulation factor II (thrombin) receptor-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348825 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620872 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:13580 cholestasis ISO RGD:1351365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 620872 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:630 genetic disease ISO RGD:1351365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620872 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 620872 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:914 peliosis hepatis ISO RGD:1351365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 620873 Il23a interleukin 23 subunit alpha gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1552166 D RGD:11097134|PMID:26455347 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1552166 D RGD:39457946|PMID:12162874 20201009 RGD mRNA;increased expression:trigeminal ganglion (mouse) 620873 Il23a interleukin 23 subunit alpha gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 620873 Il23a interleukin 23 subunit alpha gene DOID:10808 gastric ulcer treatment ISO RGD:1552166 D RGD:39458037|PMID:23874957 20201010 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:11339 pneumocystosis ISO RGD:1552166 D RGD:39458043|PMID:17403873 20201012 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:11573 listeriosis ISO RGD:1552166 D RGD:39457955|PMID:19923464 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:11573 listeriosis ISO RGD:1552166 D RGD:39457958|PMID:22966045 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:12053 cryptococcosis severity ISO RGD:1552166 D RGD:39457936|PMID:16393998 20201008 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:12053 cryptococcosis severity ISO RGD:1552166 D RGD:39458042|PMID:22342846 20201011 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:12140 Chagas disease susceptibility ISO RGD:1552166 D RGD:39457956|PMID:23182712 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1552166 D RGD:39457940|PMID:16157683 20201008 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:13622 campylobacteriosis ISO RGD:1552166 D RGD:39457954|PMID:27322540 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:13622 campylobacteriosis ISO RGD:1552166 D RGD:39458040|PMID:27385977 20201011 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:14262 oral candidiasis severity ISO RGD:1552166 D RGD:39457957|PMID:19204111 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:2123 tularemia ISO RGD:1552166 D RGD:39458039|PMID:25296161 20201011 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 620873 Il23a interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:39457949|PMID:16002675 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:39457953|PMID:11801672 20201009 RGD mRNA:increased expression:lung (mouse) 620873 Il23a interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:39458036|PMID:20624887 20201010 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:39458038|PMID:21156751 20201011 RGD mRNA:increased expression:lung (mouse) 620873 Il23a interleukin 23 subunit alpha gene DOID:3310 atopic dermatitis ISO RGD:731906 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:33274957 620873 Il23a interleukin 23 subunit alpha gene DOID:630 genetic disease ISO RGD:731906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620873 Il23a interleukin 23 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:731906 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620873 Il23a interleukin 23 subunit alpha gene DOID:8893 psoriasis ISO RGD:731906 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190|PMID:21348542 620873 Il23a interleukin 23 subunit alpha gene DOID:9000099 Experimental Colitis severity ISO RGD:1552166 D RGD:39458035|PMID:24028683 20201010 RGD mRNA:increased expression:colon (mouse) 620873 Il23a interleukin 23 subunit alpha gene DOID:9001011 Bovine Tuberculosis ISO RGD:1552166 D RGD:39457937|PMID:16923792 20201008 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:9001365 Amebic Liver Abscess ISO RGD:1552166 D RGD:39458041|PMID:26809113 20201011 RGD mRNA:increased expression:liver (mouse) 620873 Il23a interleukin 23 subunit alpha gene DOID:9002283 Experimental Allergic Asthma ISO RGD:1552166 D RGD:11251537|PMID:26344076 20201012 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:9002283 Experimental Allergic Asthma ISO RGD:1552166 D RGD:5037240|PMID:19935773 20110303 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1552166 D RGD:39457935|PMID:28356392 20201008 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552166 D RGD:39457943|PMID:15265921 20201009 RGD 620873 Il23a interleukin 23 subunit alpha gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552166 D RGD:39457938|PMID:29078003 20201008 RGD 620874 Chi3l1 chitinase 3 like 1 gene DOID:0050685 small cell carcinoma severity ISO RGD:732419 D RGD:4892640|PMID:15541818 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:732419 D RGD:4892637|PMID:12124825 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:0080600 COVID-19 ISO RGD:732419 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620874 Chi3l1 chitinase 3 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620874 Chi3l1 chitinase 3 like 1 gene DOID:10286 prostate carcinoma severity ISO RGD:732419 D RGD:4892641|PMID:16372331 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:10591 pre-eclampsia ISO RGD:732419 D RGD:4892664|PMID:18054022 20110228 RGD protein:increased secretion:umbilical cord, serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:10763 hypertension IEP D RGD:4892597|PMID:18703386 20110225 RGD mRNA:increased expression:brainstem, solitary tract nucleus (rat) 620874 Chi3l1 chitinase 3 like 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732419 D RGD:4892651|PMID:20558631 20110228 RGD protein:decreased secretion:lung, secretion (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:13375 temporal arteritis ISO RGD:732419 D RGD:5024918|PMID:10616010 20110302 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732419 D RGD:4892634|PMID:15763444 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:1380 endometrial cancer severity ISO RGD:732419 D RGD:4892642|PMID:17023034 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732419 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620874 Chi3l1 chitinase 3 like 1 gene DOID:1612 breast cancer severity ISO RGD:732419 D RGD:4892603|PMID:12889595 20110225 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:1909 melanoma severity ISO RGD:732419 D RGD:4892643|PMID:16456816 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:2349 arteriosclerosis ISO RGD:732419 D RGD:4892604|PMID:10073974 20110225 RGD protein:increased expression:artery, plaque, macrophage (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:2394 ovarian cancer severity ISO RGD:732419 D RGD:4892638|PMID:12883737 20110228 RGD protein:increased secretion:plasma (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 620874 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:4892630|PMID:19568425 20110228 RGD DNA:snp:5' utr:g.-131C>G rs4950928 (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:4892632|PMID:18003958 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:4892663|PMID:19414556 20110228 RGD human gene in mouse model 620874 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 PMID:18403759 620874 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma susceptibility ISO RGD:732419 D RGD:7240710 20190502 OMIM 620874 Chi3l1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 620874 Chi3l1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:4892621|PMID:11161003 20110225 RGD mRNA:increased expression:brain, tumor (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:3070 high grade glioma ISO RGD:732419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20506295 620874 Chi3l1 chitinase 3 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732419 D RGD:4892658|PMID:20656949 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:3371 chondrosarcoma ISO RGD:732419 D RGD:4892624|PMID:12598313 20110228 RGD mRNA:increased expression:tumor (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:3393 coronary artery disease ISO RGD:732419 D RGD:4892665|PMID:17627189 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:3770 pulmonary fibrosis severity ISO RGD:732419 D RGD:4892653|PMID:20888745 20110228 RGD protein:increased secretion:serum, lung (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732419 D RGD:4892660|PMID:20564116 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:418 systemic scleroderma ISO RGD:732419 D RGD:4892666|PMID:16195162 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:5419 schizophrenia ISO RGD:732419 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 620874 Chi3l1 chitinase 3 like 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:732419 D RGD:7240710 20230505 OMIM 620874 Chi3l1 chitinase 3 like 1 gene DOID:5844 myocardial infarction ISO RGD:732419 D RGD:4892633|PMID:18480670 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:6000 congestive heart failure ISO RGD:732419 D RGD:4892629|PMID:19961288 20110228 RGD protein:increased secretion:plasma (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:630 genetic disease ISO RGD:732419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620874 Chi3l1 chitinase 3 like 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:732419 D RGD:4892605|PMID:10461474 20110225 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:8398 osteoarthritis ISO RGD:732419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 620874 Chi3l1 chitinase 3 like 1 gene DOID:850 lung disease ISO RGD:1552317 D RGD:4892651|PMID:20558631 20110228 RGD Acute Lung Injury 620874 Chi3l1 chitinase 3 like 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732419 D RGD:4892626|PMID:10515841 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732419 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620874 Chi3l1 chitinase 3 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732419 D RGD:4892620|PMID:11752453 20110225 RGD mRNA:increased expression:tumor (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732419 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 620874 Chi3l1 chitinase 3 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:732419 D RGD:4892644|PMID:16361549 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732419 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620874 Chi3l1 chitinase 3 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732419 D RGD:4892628|PMID:21143859 20110228 RGD protein:increased secretion:plasma (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:9470 bacterial meningitis severity ISO RGD:732419 D RGD:4892662|PMID:11986266 20110228 RGD protein:increased secretion:cerebrospinal fluid (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:9538 multiple myeloma severity ISO RGD:732419 D RGD:4892645|PMID:16930142 20110228 RGD protein:increased secretion:serum (human) 620874 Chi3l1 chitinase 3 like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1552317 D RGD:4892658|PMID:20656949 20110228 RGD 620874 Chi3l1 chitinase 3 like 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732419 D RGD:4892627|PMID:18957531 20110228 RGD protein:increased secretion:serum (human) 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:7240710 20190315 OMIM 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:15502825|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22990144|PMID:23436467|PMID:24026681|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26649472|PMID:27232954|PMID:28492532|PMID:28726809|PMID:30576498|PMID:32404165|PMID:34906476|PMID:9536098 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1346095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1346095 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1826 epilepsy ISO RGD:1346095 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30576498|PMID:32404165|PMID:34906476 620875 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1603716 D RGD:8661694|PMID:21883707 20140612 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:0060189 ileitis ISO RGD:1552061 D RGD:8661712|PMID:22848538 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1603716 D RGD:14995492|PMID:26591766 20191029 RGD DNA:polymorphism: :190A>G(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080599 Coronavirus infectious disease ISS RGD:1552061 D RGD:13592920 20200730 MouseDO 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080745 polymyositis ISO RGD:1603716 D RGD:8661727|PMID:15772970 20140613 RGD protein:increased expression:limb muscle: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1552061 D RGD:8661637|PMID:19597109 20140611 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1603716 D RGD:8661727|PMID:15772970 20140613 RGD protein:increased expression:limb muscle: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:10303 sialadenitis ISO RGD:1552061 D RGD:8661704|PMID:17284325 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:106 pleural tuberculosis ISO RGD:1603716 D RGD:4145106|PMID:19159432 20101025 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:10871 age related macular degeneration ISS RGD:1552061 D RGD:13592920 20180518 MouseDO 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1603716 D RGD:8661669|PMID:22789920 20140612 RGD protein:increased expression:monocyte: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:11335 sarcoidosis ISO RGD:1603716 D RGD:4144898|PMID:18513341 20101021 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:11382 corneal neovascularization ISO RGD:1552061 D RGD:8657360|PMID:12827053 20140606 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:11382 corneal neovascularization ISO RGD:1552061 D RGD:9491750|PMID:19421039 20140910 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1552061 D RGD:8661781|PMID:24907405 20140616 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:1552061 D RGD:8657358|PMID:19277603 20140606 RGD protein:increased expression:liver,serum: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:11716 prediabetes syndrome ISO RGD:1603716 D RGD:2313557|PMID:18096169 20091001 RGD DNA:polymorphism:promoter:-960T>A (rs3918359) (human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:12574 posterior uveitis ISO RGD:1603716 D RGD:8551817|PMID:17417600 20140609 RGD DNA:polymorphism:cds:p.V64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:12732 intermediate uveitis susceptibility ISO RGD:1603716 D RGD:8551817|PMID:17417600 20140609 RGD DNA:polymorphism:cds:p.V64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1552061 D RGD:8661731|PMID:10946288 20140613 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1603716 D RGD:8551811|PMID:17672867 20140613 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:1603716 D RGD:8661707|PMID:21264360 20140612 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:1555 urticaria susceptibility ISO RGD:1603716 D RGD:8551831|PMID:23727176 20140613 RGD DNA:polymorphism,haplotype::190G>A(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:1564 fungal infectious disease ISO RGD:1603716 D RGD:7483612|PMID:22287435 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:1577 limited scleroderma ISO RGD:1552061 D RGD:8661733|PMID:12925209 20140613 RGD mRNA,protein:increased expression:skin: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:1824 status epilepticus ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:2030 anxiety disorder ISO RGD:1552061 D RGD:8661781|PMID:24907405 20140616 RGD associated with Sciatic Neuropathy; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1552061 D RGD:4145124|PMID:11518728 20101026 RGD mRNA:increased expression:trachea: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1552061 D RGD:8549811|PMID:19917684 20140408 RGD protein:increased expression:lung, dendritic cell (mouse) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1603716 D RGD:8551842|PMID:23454776 20140606 RGD DNA:haplotype:cds:p.V64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1603716 D RGD:4145110|PMID:17298432 20101025 RGD DNA:SNP:cds:p.V64I (human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1552061 D RGD:734715|PMID:11438742 20101022 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1552061 D RGD:8661227|PMID:10899907 20140610 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3082 interstitial lung disease severity ISO RGD:1603716 D RGD:4145064|PMID:16095529 20101022 RGD protein:increased expression: T cell 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease IEP D RGD:4890034|PMID:18076762 20140616 RGD mRNA,protein:increased expression:dorsal root ganglion: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1603716 D RGD:8661734|PMID:15370700 20140613 RGD protein:increased expression:skin,monocyte: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603716 D RGD:8657363|PMID:16857270 20140606 RGD protein:increased expression:plasma: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1603716 D RGD:8657363|PMID:16857270 20140606 RGD protein:decreased expression:monocyte: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3393 coronary artery disease ISO RGD:1603716 D RGD:1581178|PMID:12426226 19990101 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3429 inclusion body myositis ISO RGD:1603716 D RGD:8661727|PMID:15772970 20140613 RGD protein:increased expression:limb muscle: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3612 retinitis ISO RGD:1552061 D RGD:8661224|PMID:24142887 20140610 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1552061 D RGD:4145065|PMID:15743780 20101022 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14609568 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:409 liver disease ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12845637 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:418 systemic scleroderma ISO RGD:1552061 D RGD:9479741|PMID:23142052 20140905 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration ISO RGD:1603716 D RGD:8657363|PMID:16857270 20140606 RGD protein:increased expression:plasma: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration no_association ISO RGD:1603716 D RGD:7794843|PMID:18172114 20140610 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1603716 D RGD:4145111|PMID:17135764 20101025 RGD Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:4617 periapical granuloma ISO RGD:1603716 D RGD:8661719|PMID:16101967 20140612 RGD mRNA:increased expression:gingiva: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1603716 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1603716 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9252328|PMID:9662369 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1603716 D RGD:7240710 20230125 OMIM 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1552061 D RGD:4145068|PMID:14615370 20101022 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1552061 D RGD:8661704|PMID:17284325 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1603716 D RGD:1581174|PMID:12853162 19990101 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1603716 D RGD:1581177|PMID:12719858 19990101 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1603716 D RGD:1581177|PMID:12719858 19990101 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1603716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis IEP D RGD:8661717|PMID:24631631 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:8466 retinal degeneration ISO RGD:1552061 D RGD:8657362|PMID:23022404 20140606 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:4144896|PMID:20152938 20101021 RGD acute lung injury 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:4145002|PMID:17222215 20101021 RGD acute lung injury associated with anoxia 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1603716 D RGD:4144897|PMID:19733456 20101021 RGD lung injury associated with sepsis; protein:increased expression:macrophage alveolar 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:865 vasculitis ISO RGD:1552061 D RGD:8661749|PMID:23074996 20140613 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:8683 myeloid sarcoma ISO RGD:1603716 D RGD:8661751|PMID:20582977 20140613 RGD associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1552061 D RGD:4891443|PMID:20042590 20110113 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:8893 psoriasis ISO RGD:1603716 D RGD:8661734|PMID:15370700 20140613 RGD protein:increased expression:skin,monocyte: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4144888|PMID:18338959 20101020 RGD protein:increased expression:spinal cord 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000226 Periodontal Cyst ISO RGD:1603716 D RGD:8661719|PMID:16101967 20140612 RGD mRNA:increased expression:gingiva: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000585 Intervertebral Disc Disease IEP D RGD:8661788|PMID:24462503 20140616 RGD mRNA,protein:increased expression:neuron,macrophage: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain IMP D RGD:2307043|PMID:18419759 20090515 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:1552061 D RGD:8661785|PMID:23185004 20140616 RGD associated with Osteoarthritis, Knee; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552061 D RGD:4145126|PMID:10438957 20101026 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1552061 D RGD:8661687|PMID:21241302 20140612 RGD associated with Periodontitis; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1603716 D RGD:8661721|PMID:20059422 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552061 D RGD:8657364|PMID:22205983 20140606 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001427 Geographic Atrophy ISO RGD:1603716 D RGD:8661224|PMID:24142887 20140610 RGD protein:increased expression:monocyte 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1603716 D RGD:7483612|PMID:22287435 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001954 Thoracic Injuries IEP D RGD:4144894|PMID:20543668 20101021 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1552061 D RGD:14995460|PMID:27229110 20191025 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1552061 D RGD:2313558|PMID:17631861 20091001 RGD associated with Diabetes Mellitus, Insulin-Dependent 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1603716 D RGD:2313563|PMID:11756347 20091001 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia IEP D RGD:8548831|PMID:22721162 20140616 RGD protein:increased expression:dorsal horn of spinal cord: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia IEP D RGD:8661772|PMID:23511129 20140616 RGD associated with Bone Neoplasms;protein:increased expression:spinal cord: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia IMP D RGD:2307043|PMID:18419759 20090515 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia IMP D RGD:4890034|PMID:18076762 20140616 RGD associated with Demyelinating Diseases; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia IMP D RGD:8661788|PMID:24462503 20140616 RGD associated with Intervertebral disc disease; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1552061 D RGD:8661781|PMID:24907405 20140616 RGD associated with Sciatic Neuropathy; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1552061 D RGD:8661785|PMID:23185004 20140616 RGD mRNA,protein:increased expression:dorsal root ganglion: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:4144893|PMID:16320322 20101021 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002699 Periapical Diseases ISO RGD:1552061 D RGD:8661683|PMID:20113782 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:632391|PMID:9655467 20101215 RGD mRNA:increased expression:spinal cord 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002834 Herpesviridae Infections ISO RGD:1552061 D RGD:4144903|PMID:18187693 20101021 RGD associated with pulmonary fibrosis 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1552061 D RGD:8657356|PMID:17075702 20140606 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1603716 D RGD:4145109|PMID:17982926 20101025 RGD mRNA:increased expression:Nasal Mucosa 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:4144890|PMID:18095591 20101020 RGD mRNA, protein:increased expression:brain 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552061 D RGD:8661752|PMID:22377584 20140613 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003969 Peri-Implantitis ISO RGD:1603716 D RGD:8661721|PMID:20059422 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1552061 D RGD:8657367|PMID:14662900 20140609 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552061 D RGD:8661685|PMID:19741601 20140612 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552061 D RGD:8661636|PMID:20836883 20140611 RGD associated with Vascular System Injuries; 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552061 D RGD:8657357|PMID:24736166 20140606 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis no_association ISO RGD:1552061 D RGD:8657383|PMID:19357362 20140609 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:1552061 D RGD:8661671|PMID:12605265 20140612 RGD mRNA:increased expression:eye: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1552061 D RGD:14995489|PMID:25557254 20191029 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1603716 D RGD:8661698|PMID:21570337 20140612 RGD DNA:polymorphism:cds:pV64I(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603716 D RGD:4892017|PMID:15786508 20140612 RGD protein:decreased expression:monocyte: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1603716 D RGD:8661745|PMID:20153665 20140613 RGD associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9065 leishmaniasis ISO RGD:1552061 D RGD:8661227|PMID:10899907 20140610 RGD 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552061 D RGD:5688168|PMID:12874303 20140616 RGD mRNA:increased expression:foot, lymph node 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1552061 D RGD:8661728|PMID:24818662 20140613 RGD associated with Malnutrition;mRNA:increased expression:lymph node,spleen: 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603716 D RGD:2313561|PMID:16631114 20091001 RGD protein:increased expression:monocyte 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603716 D RGD:2313564|PMID:10400139 20091001 RGD DNA:polymorphism: :p.V64I (human) 620876 Ccr2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1603716 D RGD:2313562|PMID:12770795 20091001 RGD DNA:polymorphism 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0080690 RASopathy ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1354110 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1354110 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1354110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:3070 high grade glioma ISO RGD:1354110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578367 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:630 genetic disease ISO RGD:1354110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354110 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620878 Phldb1 pleckstrin homology-like domain, family B, member 1 gene DOID:9007661 Dwarfism ISO RGD:1354110 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 620879 Rab10 RAB10, member RAS oncogene family gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:735722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 620879 Rab10 RAB10, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62088 P2ry2 purinergic receptor P2Y2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1352486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 62088 P2ry2 purinergic receptor P2Y2 gene DOID:1059 intellectual disability ISO RGD:1352486 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 62088 P2ry2 purinergic receptor P2Y2 gene DOID:1875 impotence IDA D RGD:2315809|PMID:19303093 20100219 RGD associated with Diabetes Mellitus, Experimental 62088 P2ry2 purinergic receptor P2Y2 gene DOID:630 genetic disease ISO RGD:1352486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62088 P2ry2 purinergic receptor P2Y2 gene DOID:9007993 Dehydration IEP D RGD:2316687|PMID:15687250 20100219 RGD mRNA, protein:decreased expression:inner renal medulla 620880 Rab13 RAB13, member RAS oncogene family gene DOID:0070048 GAND syndrome ISO RGD:733233 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 620880 Rab13 RAB13, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:733233 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620880 Rab13 RAB13, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 620880 Rab13 RAB13, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 620880 Rab13 RAB13, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 620880 Rab13 RAB13, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:733233 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620880 Rab13 RAB13, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620880 Rab13 RAB13, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620880 Rab13 RAB13, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733233 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620881 Rab14 RAB14, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:737104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620883 Mia MIA SH3 domain containing gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 620883 Mia MIA SH3 domain containing gene DOID:1342 congenital hypoplastic anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 620883 Mia MIA SH3 domain containing gene DOID:2340 craniosynostosis ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 620883 Mia MIA SH3 domain containing gene DOID:630 genetic disease ISO RGD:732144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620883 Mia MIA SH3 domain containing gene DOID:9000217 Stomach Neoplasms ISO RGD:732144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 620883 Mia MIA SH3 domain containing gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 620883 Mia MIA SH3 domain containing gene DOID:9003049 Femur Head Necrosis IEP D RGD:10046018|PMID:20579363 20150701 RGD mRNA:increased expression:head of femur 620883 Mia MIA SH3 domain containing gene DOID:9269 maple syrup urine disease ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 620886 Txnip thioredoxin interacting protein gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1343574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 620886 Txnip thioredoxin interacting protein gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:732141 D RGD:15090806|PMID:29482933 20191219 RGD 620886 Txnip thioredoxin interacting protein gene DOID:0080600 COVID-19 ISO RGD:1343574 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 620886 Txnip thioredoxin interacting protein gene DOID:0111027 hemochromatosis type 2A ISO RGD:1343574 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 620886 Txnip thioredoxin interacting protein gene DOID:10534 stomach cancer IEP D RGD:1642760|PMID:12553030 20071012 RGD mRNA:decreased expression:stomach 620886 Txnip thioredoxin interacting protein gene DOID:14525 Reye syndrome ISS RGD:732141 D RGD:13592920 20180518 MouseDO 620886 Txnip thioredoxin interacting protein gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1343574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 620886 Txnip thioredoxin interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1343574 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620886 Txnip thioredoxin interacting protein gene DOID:1686 glaucoma IEP D RGD:2306193|PMID:18701913 20090324 RGD protein:increased expression:retinal ganglion cell 620886 Txnip thioredoxin interacting protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:732141 D RGD:1642753|PMID:15047687 20071012 RGD DNA:nonsense mutation 620886 Txnip thioredoxin interacting protein gene DOID:289 endometriosis ISO RGD:1343574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620886 Txnip thioredoxin interacting protein gene DOID:4450 renal cell carcinoma IDA D RGD:1642756|PMID:15834431 20071012 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, kidney 620886 Txnip thioredoxin interacting protein gene DOID:5419 schizophrenia ISO RGD:1343574 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620886 Txnip thioredoxin interacting protein gene DOID:630 genetic disease ISO RGD:1343574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620886 Txnip thioredoxin interacting protein gene DOID:684 hepatocellular carcinoma ISS RGD:732141 D RGD:13592920 20180518 MouseDO OMIM:114550 620886 Txnip thioredoxin interacting protein gene DOID:7148 rheumatoid arthritis ISO RGD:1343574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 620886 Txnip thioredoxin interacting protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1343574 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35246762 620886 Txnip thioredoxin interacting protein gene DOID:9000918 Disease Progression ISO RGD:1343574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 620886 Txnip thioredoxin interacting protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17582205 620886 Txnip thioredoxin interacting protein gene DOID:9005233 Experimental Mammary Neoplasms severity IEP D RGD:1642758|PMID:15170812 20071012 RGD mRNA:decreased expression:mammary gland 620886 Txnip thioredoxin interacting protein gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642749|PMID:17675577 20071012 RGD protein:increased expression:kidney 620886 Txnip thioredoxin interacting protein gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1343574 D RGD:1642750|PMID:17381501 20071012 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr 620886 Txnip thioredoxin interacting protein gene DOID:9007102 Myocardial Ischemia IDA D RGD:1580789|PMID:16172122 19990101 RGD 620886 Txnip thioredoxin interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343574 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620886 Txnip thioredoxin interacting protein gene DOID:9256 colorectal cancer disease_progression IEP D RGD:1642760|PMID:12553030 20071012 RGD mRNA:decreased expression:stomach 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:0060224 atrial fibrillation ISO RGD:736993 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:630 genetic disease ISO RGD:736993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:7240710 20140903 OMIM 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:17576681|PMID:22231303|PMID:24033266|PMID:25741868|PMID:27742395|PMID:28492532|PMID:9536098 620887 Wipf1 WAS/WASL interacting protein family, member 1 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:736993 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 620888 Nucb2 nucleobindin 2 gene DOID:1059 intellectual disability ISO RGD:734220 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620888 Nucb2 nucleobindin 2 gene DOID:630 genetic disease ISO RGD:734220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620888 Nucb2 nucleobindin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620888 Nucb2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:9831177|PMID:20032201 20150302 RGD protein:decreased expression:pancreas: 620888 Nucb2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734220 D RGD:9831161|PMID:22108805 20150227 RGD mRNA:decreased expression:islet of Langerhans: 620888 Nucb2 nucleobindin 2 gene DOID:9970 obesity IEP D RGD:9831187|PMID:22641054 20150302 RGD protein:increased expression:adipose tissue: 620889 Slc34a2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:7240710 20130221 OMIM 620889 Slc34a2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS PMID:11287838|PMID:16960801|PMID:24033266|PMID:25741868|PMID:28492532 620889 Slc34a2 solute carrier family 34 member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22617245|PMID:22919003 620889 Slc34a2 solute carrier family 34 member 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733113 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620889 Slc34a2 solute carrier family 34 member 2 gene DOID:630 genetic disease ISO RGD:733113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620889 Slc34a2 solute carrier family 34 member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 620890 Rab26 RAB26, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 620890 Rab26 RAB26, member RAS oncogene family gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736116 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 620890 Rab26 RAB26, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 620890 Rab26 RAB26, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 620890 Rab26 RAB26, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736116 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 620890 Rab26 RAB26, member RAS oncogene family gene DOID:2871 endometrial carcinoma ISO RGD:736116 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 620890 Rab26 RAB26, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620890 Rab26 RAB26, member RAS oncogene family gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736116 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 620891 Rab28 RAB28, member RAS oncogene family gene DOID:0050572 cone-rod dystrophy ISO RGD:736462 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:23746546 620891 Rab28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:7240710 20140911 OMIM 620891 Rab28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 18 PMID:23746546|PMID:23806086|PMID:24088041|PMID:25356532|PMID:25741868|PMID:28492532 620891 Rab28 RAB28, member RAS oncogene family gene DOID:10584 retinitis pigmentosa ISO RGD:736462 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 620891 Rab28 RAB28, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620891 Rab28 RAB28, member RAS oncogene family gene DOID:8501 fundus dystrophy ISO RGD:736462 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 620892 Rab29 RAB29, member RAS oncogene family gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620892 Rab29 RAB29, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:736472 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620892 Rab29 RAB29, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:736472 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620892 Rab29 RAB29, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620892 Rab29 RAB29, member RAS oncogene family gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736472 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620892 Rab29 RAB29, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736472 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:730888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730889 D RGD:1302556|PMID:12511592 19990101 RGD 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10779 septic myocarditis treatment ISO RGD:730889 D RGD:39456138|PMID:27621180 20201006 RGD 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:14069 cerebral malaria ISO RGD:730889 D RGD:39456137|PMID:29107705 20201005 RGD mRNA:decreased expression:brain (mouse) 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:730888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730888 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29753072 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002189 High Myopia ISO RGD:730888 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:730888 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18812163 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007096 Stroke ISO RGD:730888 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20847317 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:730888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730888 D RGD:1625266|PMID:16567511 20070531 RGD DNA:SNPs 620893 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730888 D RGD:1625266|PMID:16567511 20070531 RGD DNA:SNPs 620894 Ptpn12 protein tyrosine phosphatase, non-receptor type 12 gene DOID:1520 colon carcinoma ISO RGD:1346224 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7509295 620894 Ptpn12 protein tyrosine phosphatase, non-receptor type 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346224 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 620894 Ptpn12 protein tyrosine phosphatase, non-receptor type 12 gene DOID:630 genetic disease ISO RGD:1346224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620894 Ptpn12 protein tyrosine phosphatase, non-receptor type 12 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1346224 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 620894 Ptpn12 protein tyrosine phosphatase, non-receptor type 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346224 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 620894 Ptpn12 protein tyrosine phosphatase, non-receptor type 12 gene DOID:9256 colorectal cancer ISO RGD:1346224 D RGD:7240710 20200226 OMIM 620896 Cd99l2 CD99 molecule-like 2 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:735542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 620896 Cd99l2 CD99 molecule-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 620896 Cd99l2 CD99 molecule-like 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:735542 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 620896 Cd99l2 CD99 molecule-like 2 gene DOID:12849 autistic disorder ISO RGD:735542 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620896 Cd99l2 CD99 molecule-like 2 gene DOID:630 genetic disease ISO RGD:735542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620896 Cd99l2 CD99 molecule-like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735542 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 620897 Dusp1 dual specificity phosphatase 1 gene DOID:0050850 diabetic encephalopathy IEP D RGD:7771546|PMID:17601561 20131218 RGD associated with Diabetes Mellitus, Experimental 620897 Dusp1 dual specificity phosphatase 1 gene DOID:0060180 colitis severity ISO RGD:732955 D RGD:7771532|PMID:22461024 20131218 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:0080600 COVID-19 ISO RGD:732954 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 620897 Dusp1 dual specificity phosphatase 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 620897 Dusp1 dual specificity phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732954 D RGD:2298698|PMID:9010448 20080715 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:10603 glucose intolerance resistance ISO RGD:732955 D RGD:2298673|PMID:16814733 20080715 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:10754 otitis media treatment ISO RGD:732955 D RGD:7771533|PMID:22610099 20131218 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:10762 portal hypertension IEP D RGD:2298677|PMID:11758828 20080715 RGD mRNA, protein:increased expression:stomach mucosa 620897 Dusp1 dual specificity phosphatase 1 gene DOID:10763 hypertension IEP D RGD:2298678|PMID:9231829 20080715 RGD mRNA, protein:increased expression:aorta 620897 Dusp1 dual specificity phosphatase 1 gene DOID:10908 hydrocephalus ISO RGD:732954 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 620897 Dusp1 dual specificity phosphatase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732954 D RGD:2298694|PMID:17690186 20080715 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy IEP D RGD:2298690|PMID:8883936 20080715 RGD protein:increased expression:brain 620897 Dusp1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy IEP D RGD:728656|PMID:8626780 20131223 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:12858 Huntington's disease treatment IMP D RGD:7771544|PMID:23392662 20131218 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:1470 major depressive disorder ISO RGD:732954 D RGD:7771583|PMID:20953200 20131219 RGD mRNA:increased expression:dentated gyrus, hippocampus A1 620897 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:2298697|PMID:9724088 20080715 RGD protein:increased expression:T cell 620897 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:7495809|PMID:12618338 20131218 RGD protein:increased expression:mammary gland 620897 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732954 D RGD:7495851|PMID:19417026 20131217 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer severity ISO RGD:732954 D RGD:7495850|PMID:22333693 20131217 RGD DNA:hypermethylation:promoter 620897 Dusp1 dual specificity phosphatase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732954 D RGD:7771538|PMID:23892499 20131218 RGD mRNA:increased expression:saliva 620897 Dusp1 dual specificity phosphatase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:7771582|PMID:22197701 20131219 RGD protein:increased expression:brain 620897 Dusp1 dual specificity phosphatase 1 gene DOID:2349 arteriosclerosis ISO RGD:732955 D RGD:2298676|PMID:15242861 20080715 RGD protein:increased expression:aorta 620897 Dusp1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis ISO RGD:732954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 620897 Dusp1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis treatment ISO RGD:732955 D RGD:7771535|PMID:23076500 20131218 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:289 endometriosis ISO RGD:732954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620897 Dusp1 dual specificity phosphatase 1 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732954 D RGD:2298695|PMID:12432554 20080715 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:633769|PMID:8587253 20080715 RGD mRNA:increased expression:glomerulus 620897 Dusp1 dual specificity phosphatase 1 gene DOID:4989 pancreatitis IEP D RGD:2301725|PMID:11027531 20081030 RGD mRNA:increased expression:pancreas 620897 Dusp1 dual specificity phosphatase 1 gene DOID:630 genetic disease ISO RGD:732954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620897 Dusp1 dual specificity phosphatase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620897 Dusp1 dual specificity phosphatase 1 gene DOID:8893 psoriasis ISO RGD:732954 D RGD:7495852|PMID:22924482 20131217 RGD mRNA:decreased expression:skin 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:7771572|PMID:18630599 20131219 RGD protein:decreased expression:spinal cord 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:7771580|PMID:19383246 20131219 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9001725 Retina Reperfusion Injury treatment IMP D RGD:7495849|PMID:21094639 20131217 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9002211 Hyperalgesia treatment IDA D RGD:7771574|PMID:22540262 20131219 RGD associated with Sciatic Neuropathy 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9002211 Hyperalgesia treatment IEP D RGD:7771531|PMID:22901764 20131218 RGD associated with Sciatic Neuropathy 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:7771581|PMID:12487923 20131219 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment IEP D RGD:7771584|PMID:19347983 20131219 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:732954 D RGD:5129167|PMID:20837666 20131218 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2298672|PMID:17647144 20080715 RGD mRNA, protein:decreased expression:ventricle myocardium 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7771540|PMID:17063547 20131218 RGD mRNA:increased expression:retina 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9005882 Spine Osteoarthritis ISO RGD:732954 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:7771579|PMID:9546380 20131219 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:732954 D RGD:7771547|PMID:16515552 20131218 RGD mRNA, protein:decreased expression:salivary gland, nerve 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9065 leishmaniasis treatment ISO RGD:732955 D RGD:7771536|PMID:21471446 20131218 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:2298693|PMID:7485483 20080715 RGD 620897 Dusp1 dual specificity phosphatase 1 gene DOID:9970 obesity susceptibility ISO RGD:732955 D RGD:2298673|PMID:16814733 20080715 RGD 620898 Prok1 prokineticin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736057 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620898 Prok1 prokineticin 1 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 620898 Prok1 prokineticin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 620898 Prok1 prokineticin 1 gene DOID:12849 autistic disorder ISO RGD:736057 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620898 Prok1 prokineticin 1 gene DOID:630 genetic disease ISO RGD:736057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620899 Pik3c3 phosphatidylinositol 3-kinase, catalytic subunit type 3 gene DOID:1059 intellectual disability ISO RGD:732994 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620899 Pik3c3 phosphatidylinositol 3-kinase, catalytic subunit type 3 gene DOID:630 genetic disease ISO RGD:732994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:7240710 20130221 OMIM 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D PMID:11901181|PMID:25741868|PMID:28492532|PMID:30653653|PMID:32157688 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1349315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:25741868|PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:28 endocrine system disease ISS RGD:10640 D RGD:13592920 20180518 MouseDO 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:2986 IgA glomerulonephritis ISS RGD:10640 D RGD:13592920 20190613 MouseDO OMIM:161950 | OMIM:616818 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349315 D RGD:1599432|PMID:11901181 20070202 RGD 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation susceptibility ISO RGD:1349315 D RGD:9068941 20200609 RGD DNA:insertion: ;1031insC PMID:11901181|REF_RGD_ID:1599432 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620900 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:9870 galactosemia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 620901 Pcm1 pericentriolar material 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1349730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 620901 Pcm1 pericentriolar material 1 gene DOID:5419 schizophrenia ISO RGD:1349730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19048012 620901 Pcm1 pericentriolar material 1 gene DOID:630 genetic disease ISO RGD:1349730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620901 Pcm1 pericentriolar material 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349730 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:10980597|PMID:25741868 620902 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:7240710 20140911 OMIM 620902 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency PMID:12649063|PMID:22628558|PMID:25741868 620902 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1352706 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 620902 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:303 substance-related disorder ISO RGD:1352706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 620902 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:630 genetic disease ISO RGD:1352706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620903 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348026 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620903 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1348026 D RGD:14390078|PMID:20950796 20190219 RGD DNA:SNP: :rs2460691, rrs1094527(human) 620903 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620903 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1348026 D RGD:14390077|PMID:28011674 20190219 RGD DNA:SNPs: :rs1304029,rs2748331(human) 620903 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:9206 Barrett's esophagus ISO RGD:1348026 D RGD:11552890|PMID:26545406 20190219 RGD DNA:hypermethylation:esophageal squamous epithelium 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732890 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:7240710 20190501 OMIM 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 61 PMID:25741868|PMID:28492532|PMID:29636373 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732890 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:630 genetic disease ISO RGD:732890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 620904 Sh3kbp1 SH3 domain-containing kinase-binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732890 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735943 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:735943 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:735943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:735943 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735943 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:5419 schizophrenia ISO RGD:735943 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:630 genetic disease ISO RGD:735943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735943 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620905 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735943 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620906 Six1 SIX homeobox 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:731648 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 620906 Six1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:7240710 20130221 OMIM 620906 Six1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841 620906 Six1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1550080 D RGD:8554879|PMID:19389353 20140512 RGD DNA:mutation:cds:p.E121G(mouse) 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:11064057|PMID:21280147 20161114 RGD DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human) 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:18330911|PMID:24164807|PMID:25741868 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554876|PMID:15141091 20140512 RGD DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human) 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554880|PMID:17637804 20140512 RGD DNA:mutation:cds:c.364T>A (p.W122R)(human) 620906 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554882|PMID:18330911 20140512 RGD DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human) 620906 Six1 SIX homeobox 1 gene DOID:1612 breast cancer severity ISO RGD:731648 D RGD:11561960|PMID:9770533 20161114 RGD mRNA:increased expression:breast epithelium (human) 620906 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma ISO RGD:731648 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 620906 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:11561953|PMID:25670083 20161114 RGD DNA:missense mutation:cds:p.Q177R (human) 620906 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:11561963|PMID:22180226 20161115 RGD protein:increased expression:kidney, blastema (human) 620906 Six1 SIX homeobox 1 gene DOID:3192 neurilemmoma ISO RGD:731648 D RGD:11561959|PMID:19901965 20161114 RGD mRNA:increased expression:Schwann cell (human) 620906 Six1 SIX homeobox 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:731648 D RGD:11561962|PMID:17409410 20161114 RGD mRNA:increased expression:female gonad (human) 620906 Six1 SIX homeobox 1 gene DOID:630 genetic disease ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 620906 Six1 SIX homeobox 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731648 D RGD:11561961|PMID:17008870 20161114 RGD protein:increased expression:liver (human) 620906 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis IEP D RGD:8554873|PMID:24528972 20140512 RGD mRNA,protein:decreased expression:lung epithelium: 620906 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:1550080 D RGD:11561981|PMID:21385574 20161115 RGD 620906 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:731648 D RGD:8554873|PMID:24528972 20161115 RGD mRNA:decreased expression:lung (rat) 620906 Six1 SIX homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731648 D RGD:11561950|PMID:23435380 20161114 RGD human gene in a mouse model 620906 Six1 SIX homeobox 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1550080 D RGD:11561941|PMID:21364285 20161114 RGD 620906 Six1 SIX homeobox 1 gene DOID:9001767 Unilateral Hearing Loss ISO RGD:731648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Unilateral deafness 620906 Six1 SIX homeobox 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:731648 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:24033266|PMID:25741868 620906 Six1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:1550080 D RGD:8554879|PMID:19389353 20161114 RGD DNA:missense mutation:cds:p.E121G (mouse) 620906 Six1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:731648 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 620906 Six1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:731648 D RGD:8554876|PMID:15141091 20140512 RGD DNA:mutation:cds:c.373G >A(p.E125K)(human) 620906 Six1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1550080 D RGD:8554898|PMID:12834866 20140513 RGD 620906 Six1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:731648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 620906 Six1 SIX homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731648 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27259717 620906 Six1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:7240710 20130221 OMIM 620906 Six1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:17637804|PMID:18330911|PMID:18666230|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:24033266|PMID:24164807|PMID:25326635|PMID:25414181|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:35802133|PMID:36633841 620906 Six1 SIX homeobox 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731648 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 620906 Six1 SIX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731648 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:0050581 brachydactyly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1345219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:7240710 20170201 OMIM 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 PMID:24728327|PMID:25533962|PMID:25741868|PMID:25944380|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:30755392|PMID:31531803|PMID:31687265|PMID:32901917|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:1059 intellectual disability ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:10907 microcephaly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:12347 osteogenesis imperfecta ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:12849 autistic disorder ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:2303 stereotypic movement disorder ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:363 uterine cancer ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:630 genetic disease ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:25944380|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:8398 osteoarthritis ISO RGD:1345219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1345219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:9000918 Disease Progression ISO RGD:1345219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345219 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620907 Ppp2r1a protein phosphatase 2 scaffold subunit A alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 620908 Fbn1 fibrillin 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10766875|PMID:11175294|PMID:16596670|PMID:1729284|PMID:17324963|PMID:21784848|PMID:24199744|PMID:26796135|PMID:27914124|PMID:28492532|PMID:7611299|PMID:8880577|PMID:8882780 620908 Fbn1 fibrillin 1 gene DOID:0050473 Alstrom syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:17657824|PMID:19293843|PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:731577 D RGD:11554173 20180925 CTD CTD Direct Evidence: marker/mechanism 620908 Fbn1 fibrillin 1 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:731577 D RGD:1601144|PMID:12525539 20070409 RGD DNA:deletion 620908 Fbn1 fibrillin 1 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15241795|PMID:15598221|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17701892|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20591885|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21883168|PMID:21895641|PMID:22772377|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28550590|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:29907982|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:3536967|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:0050851 glomerulosclerosis ISO RGD:731578 D RGD:7365080|PMID:16380460 20131025 RGD associated with Hypertension 620908 Fbn1 fibrillin 1 gene DOID:0060218 CREST syndrome ISO RGD:731577 D RGD:12910471|PMID:10395706 20170614 RGD 620908 Fbn1 fibrillin 1 gene DOID:0060249 scoliosis ISO RGD:731577 D RGD:12910484|PMID:24833718 20170615 RGD DNA:missense mutations:exon:multiple 620908 Fbn1 fibrillin 1 gene DOID:0060249 scoliosis ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:26787436|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30311386|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 620908 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34498425|PMID:3495735|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34456093|PMID:34498425|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:0080685 aortic dissection ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection | ClinVar Annotator: match by term: Aortic dissection PMID:10633129|PMID:11143906|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:12203987|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16222657|PMID:16971892|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19089573|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19618372|PMID:19839986|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:23506379|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25907466|PMID:25944730|PMID:26272055|PMID:26621581|PMID:26787436|PMID:27112580|PMID:27153395|PMID:27582083|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31227806|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 620908 Fbn1 fibrillin 1 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19012347|PMID:19159394|PMID:25741868|PMID:27611364|PMID:28973303 620908 Fbn1 fibrillin 1 gene DOID:0111148 isolated ectopia lentis ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial ectopia lentis PMID:11700157|PMID:11826022|PMID:12203987|PMID:12203992|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15980072|PMID:16342915|PMID:16765689|PMID:16971892|PMID:17242066|PMID:17657824|PMID:17679947|PMID:17701892|PMID:18079676|PMID:18087243|PMID:18615205|PMID:19293843|PMID:19353630|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:21895641|PMID:22772377|PMID:22950452|PMID:24033266|PMID:24161884|PMID:25053872|PMID:25741868|PMID:25944730|PMID:27274304|PMID:27611364|PMID:28492532|PMID:29357934|PMID:30675029|PMID:30838813|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32679894|PMID:34281902|PMID:34663891|PMID:34818515|PMID:7802039|PMID:9399842 620908 Fbn1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:7240710 20130221 OMIM 620908 Fbn1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant | ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:10189222|PMID:10198291|PMID:10229672|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33200202|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34140103|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:7240710 20141015 OMIM 620908 Fbn1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24339047|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:26928463|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:731577 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:7240710 20130221 OMIM 620908 Fbn1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:0111724 geleophysic dysplasia ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10694921|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15241795|PMID:15598221|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17701892|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20591885|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21883168|PMID:21895641|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27146836|PMID:27153395|PMID:27245183|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:3536967|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:7240710 20140911 OMIM 620908 Fbn1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25142510|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26559152|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:10573 osteomalacia ISO RGD:731578 D RGD:7794797|PMID:11159866 20140113 RGD protein:increased expression:cortical bone, trabecular bone (mouse) 620908 Fbn1 fibrillin 1 gene DOID:10763 hypertension IEP D RGD:7365080|PMID:16380460 20131017 RGD protein:increased expression:renal glomerulus (rat) 620908 Fbn1 fibrillin 1 gene DOID:11111 hydronephrosis ISO RGD:731578 D RGD:7387264|PMID:15277214 20131025 RGD associated with Ureteral Obstruction; protein:altered expression:kidney (mouse) 620908 Fbn1 fibrillin 1 gene DOID:11364 lens subluxation ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:10633129|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12446365|PMID:12938084|PMID:15054843|PMID:15241795|PMID:16971892|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:28492532|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 620908 Fbn1 fibrillin 1 gene DOID:114 heart disease ISO RGD:731577 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiac disease PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:114 heart disease ISS RGD:731578 D RGD:13592920 20180518 MouseDO 620908 Fbn1 fibrillin 1 gene DOID:11476 osteoporosis ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:11502 mitral valve insufficiency ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:16571647|PMID:16905551|PMID:17657824|PMID:17701892|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:11830 myopia ISO RGD:731577 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21909107 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:1765782|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301500|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21135753|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33436942|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3495735|PMID:3536967|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7738200|PMID:7762551 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30087447|PMID:30115950|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21270786|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11063002|PMID:16971892 20170524 RGD DNA:missense mutation:exon:p.S322C (965C>G) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11063346|PMID:16220557 20170524 RGD DNA:mutations:exon, intron:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11064315|PMID:18435798 20170525 RGD DNA:mutations:exon, intron:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11064946|PMID:11453977 20170524 RGD DNA:deletion, insertion:exon:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11065528|PMID:16222657 20170525 RGD DNA:mutations:exon, intron:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11066421|PMID:8863159 20170524 RGD DNA:missense mutations:exon:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11067414|PMID:21907952 20170615 RGD DNA:missense mutations:exon:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11072084|PMID:19328768 20170614 RGD 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11072483|PMID:22772377 20170614 RGD DNA:missense mutation, nonsense mutations, splice-site mutations:exon, intron:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15235604|PMID:17657824|PMID:18178469|PMID:18212506|PMID:19430350|PMID:21909107|PMID:22772368 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12904894|PMID:11059536 20170524 RGD DNA:deletion, missense mutations:exon:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12904910|PMID:17984934 20170524 RGD DNA:missense mutation:exon:p.C1008R (c.3022T>C) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12904913|PMID:17718856 20170524 RGD DNA:deletion, nonsense mutation, splice-site mutation:exon, intron:p.G835_L838del (c.2502_2513delTGAAAGTACTTT), p.R1596X, c.989-1G>C (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910113|PMID:15221638 20170609 RGD DNA:missense mutation, nonsense mutations: :p.C2663S (c.8121G>C), p.Q136X (c.719C>T), p.Q1366X (c.4229 T>C) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910131|PMID:22876116 20170613 RGD DNA:missense mutation:exon:p.C790S (c.2368T>A) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910133|PMID:21976953 20170613 RGD DNA:missense mutation:exon:p.S1235P (c.3703T>C) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910134|PMID:25729264 20170613 RGD DNA:missense mutation:exon:p.C596G (c.1786T>G) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910139|PMID:9236141 20170613 RGD DNA:missense mutations:exon:p.C1182W (3546C>G), p.C2232Y (6695G>A), p.C2577R (7729T>C) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910459|PMID:8894692 20170614 RGD DNA:splice-site mutations:intron:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910464|PMID:16617303 20170614 RGD DNA:mutations:exon, intron:multiple 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910482|PMID:23592911 20170615 RGD DNA:missense mutation, nonsense mutation:exon:p.C271X (c.813C>A), p.C637Y (c.1910G>A) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:12910486|PMID:20886638 20170615 RGD DNA:missense mutation:exon:p.D2485V (c.7454A>T) (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:1300361|PMID:11702223 19990101 RGD 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:1580378|PMID:8882780 19990101 RGD DNA:mutations:exons:multiple (human) 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:7240710 20130221 OMIM 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29848614|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731578 D RGD:12910470|PMID:17641224 20170614 RGD 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome severity ISO RGD:731577 D RGD:12910485|PMID:26787436 20170615 RGD 620908 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome treatment ISO RGD:731577 D RGD:12910135|PMID:25613431 20170613 RGD 620908 Fbn1 fibrillin 1 gene DOID:1909 melanoma ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 620908 Fbn1 fibrillin 1 gene DOID:2018 hyperinsulinism ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 620908 Fbn1 fibrillin 1 gene DOID:2340 craniosynostosis ISO RGD:731577 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 620908 Fbn1 fibrillin 1 gene DOID:2717 Bloom syndrome ISO RGD:731577 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:289 endometriosis ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 620908 Fbn1 fibrillin 1 gene DOID:2921 glomerulonephritis IEP D RGD:7365077|PMID:16395273 20131017 RGD mRNA:increased expression:renal cortex, renal glomerulus (rat) 620908 Fbn1 fibrillin 1 gene DOID:2921 glomerulonephritis IEP D RGD:7387262|PMID:16282705 20131025 RGD mRNA, protein:increased expression:renal glomerulus (rat) 620908 Fbn1 fibrillin 1 gene DOID:3492 mixed connective tissue disease ISO RGD:731577 D RGD:12910471|PMID:10395706 20170614 RGD 620908 Fbn1 fibrillin 1 gene DOID:3526 cerebral infarction ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 620908 Fbn1 fibrillin 1 gene DOID:3627 aortic aneurysm ISO RGD:731577 D RGD:1300362|PMID:7762551 19990101 RGD DNA:missense mutation:cds:p.G1127S (human) 620908 Fbn1 fibrillin 1 gene DOID:3627 aortic aneurysm ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 620908 Fbn1 fibrillin 1 gene DOID:3627 aortic aneurysm severity ISO RGD:731578 D RGD:7365039|PMID:24071006 20131016 RGD DNA:missense mutation:cds:p.C1039G (mouse) 620908 Fbn1 fibrillin 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731577 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24088041|PMID:25736269 620908 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731577 D RGD:12910471|PMID:10395706 20170614 RGD 620908 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:7387265|PMID:11123012 20131025 RGD 620908 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma ISS RGD:731578 D RGD:13592920 20180518 MouseDO OMIM:181750 620908 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:731577 D RGD:12904889|PMID:12384286 20170524 RGD DNA:insertion:5' utr 620908 Fbn1 fibrillin 1 gene DOID:4195 hyperglycemia ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 620908 Fbn1 fibrillin 1 gene DOID:423 myopathy ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:4480 achondroplasia ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondroplasia PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:28855619 620908 Fbn1 fibrillin 1 gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:12910487|PMID:25482639 20170615 RGD mRNA:increased expression:cortex of kidney 620908 Fbn1 fibrillin 1 gene DOID:5082 liver cirrhosis IEP D RGD:12910489|PMID:14661032 20170615 RGD 620908 Fbn1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 620908 Fbn1 fibrillin 1 gene DOID:5199 ureteral obstruction ISO RGD:731578 D RGD:7365047|PMID:17200203 20131016 RGD protein:increased expression:kidney (mouse) 620908 Fbn1 fibrillin 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:731578 D RGD:7365047|PMID:17200203 20131016 RGD 620908 Fbn1 fibrillin 1 gene DOID:520 aortic disease ISO RGD:731577 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial aortopathy 620908 Fbn1 fibrillin 1 gene DOID:57 aortic valve insufficiency ISO RGD:731577 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Aortic regurgitation PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:630 genetic disease ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10198291|PMID:11139245|PMID:11700157|PMID:12651868|PMID:14598350|PMID:14695540|PMID:15161917|PMID:15241795|PMID:15598221|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16571647|PMID:16905551|PMID:17253931|PMID:17523150|PMID:17576681|PMID:17657824|PMID:17701892|PMID:18435798|PMID:1852206|PMID:19002209|PMID:19059503|PMID:19159394|PMID:19293843|PMID:19349279|PMID:19396033|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20886638|PMID:20979188|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21895641|PMID:21907952|PMID:22772377|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23608731|PMID:23684891|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24199744|PMID:24220124|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26026792|PMID:26380986|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27274304|PMID:27582083|PMID:27935852|PMID:28492532|PMID:28655553|PMID:29357934|PMID:29620724|PMID:31211624|PMID:31227806|PMID:31589614|PMID:31950671|PMID:32679894|PMID:33059708|PMID:3536967|PMID:7738200|PMID:8563763|PMID:8653794|PMID:8941093|PMID:9236141|PMID:9452033|PMID:9536098|PMID:9817919 620908 Fbn1 fibrillin 1 gene DOID:65 connective tissue disease ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10229672|PMID:10464652|PMID:11315929|PMID:11524736|PMID:11826022|PMID:11875032|PMID:11933199|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:16220557|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:19370756|PMID:19533785|PMID:20200614|PMID:20564469|PMID:20979188|PMID:21683322|PMID:21895641|PMID:21907952|PMID:23608731|PMID:23653584|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24311428|PMID:24793577|PMID:24941995|PMID:25637381|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25839328|PMID:25944730|PMID:26269718|PMID:26332594|PMID:26633542|PMID:26684006|PMID:26787436|PMID:27245183|PMID:27647783|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28941062|PMID:29357934|PMID:29848614|PMID:29875124|PMID:31008308|PMID:31098894|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31730815|PMID:32989268|PMID:34150014|PMID:34550612|PMID:35237611|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:83 cataract ISO RGD:731577 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10533071|PMID:24033266|PMID:24740214|PMID:25203624|PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731577 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9001224 Striae Distensae ISO RGD:731577 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:7240710 20180822 OMIM 620908 Fbn1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:4750422|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:9001510 Funnel Chest ISO RGD:731577 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:731577 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9001542 Albuminuria ISO RGD:731578 D RGD:7365080|PMID:16380460 20131025 RGD associated with Hypertension 620908 Fbn1 fibrillin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620908 Fbn1 fibrillin 1 gene DOID:9001665 Aneurysm ISO RGD:731577 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731577 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 620908 Fbn1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731578 D RGD:7365080|PMID:16380460 20131025 RGD associated with Diabetes Mellitus, Experimental 620908 Fbn1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:731578 D RGD:7365077|PMID:16395273 20131017 RGD associated with Diabetes Mellitus, Experimental 620908 Fbn1 fibrillin 1 gene DOID:9002189 High Myopia ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: High myopia PMID:10464652|PMID:10533071|PMID:10874320|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21542060|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26133393|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 620908 Fbn1 fibrillin 1 gene DOID:9002884 Emphysema ISO RGD:731578 D RGD:1300319|PMID:12598898 19990101 RGD associated with Marfan Syndrome 620908 Fbn1 fibrillin 1 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:1601147|PMID:15849235 20170615 RGD associated with Hypertension;protein:increased expression:myocardium 620908 Fbn1 fibrillin 1 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731577 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9004080 Aortic Rupture ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 620908 Fbn1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 620908 Fbn1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:12904906|PMID:26558191 20170524 RGD DNA:missense mutation:exon:p.C102Y (c.305G>A) (human) 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:12910138|PMID:22393277 20170613 RGD DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human) 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:12910140|PMID:15733436 20170613 RGD DNA:missense mutation:exon:p.G214S (G640G>A) (human) 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:12910479|PMID:22950452 20170615 RGD DNA:missense mutation:exon:p.R62C (c.184C>T) (human) 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:12910481|PMID:22219643 20170615 RGD DNA:missense mutation:exon:p.C587R (c.1759T>C) (human) 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:1300363|PMID:8136837 19990101 RGD 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:1580380|PMID:15054843 19990101 RGD DNA:missense mutation:cds:p.R240C (human) 620908 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:10533071|PMID:10633129|PMID:10874320|PMID:11700157|PMID:11992479|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24161884|PMID:24793577|PMID:24941995|PMID:25326635|PMID:25504618|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26133393|PMID:26787436|PMID:26875674|PMID:27906200|PMID:27959697|PMID:28492532|PMID:29357934|PMID:29543232|PMID:31098894|PMID:31211626|PMID:31227806|PMID:32123317|PMID:7611299|PMID:7870075|PMID:8653794|PMID:8723076|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26559152|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9004665 Pectus Carinatum ISO RGD:731577 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9005077 Joint Instability ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 620908 Fbn1 fibrillin 1 gene DOID:9005367 Arachnodactyly ISO RGD:731577 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 620908 Fbn1 fibrillin 1 gene DOID:9005367 Arachnodactyly ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arachnodactyly PMID:10533071|PMID:10633129|PMID:10874320|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:16971892|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24033266|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8040326|PMID:8541880|PMID:8791520|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098 620908 Fbn1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:7240710 20190315 OMIM 620908 Fbn1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24039054|PMID:24161884|PMID:24199744|PMID:24613577|PMID:24665001|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32431097|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7365080|PMID:16380460 20131017 RGD protein:increased expression:renal glomerulus (rat) 620908 Fbn1 fibrillin 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:731577 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:10633129|PMID:11992479|PMID:17418587|PMID:17627385|PMID:17657824|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24941995|PMID:25326635|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26787436|PMID:26875674|PMID:27959697|PMID:28492532|PMID:31211626|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:731577 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome PMID:15241795|PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9007096 Stroke ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 620908 Fbn1 fibrillin 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive PMID:16342915|PMID:17568394|PMID:19293843|PMID:19839986|PMID:23278365|PMID:24033266|PMID:24161884|PMID:24793577|PMID:25652356|PMID:25741868|PMID:26272055|PMID:26787436|PMID:28492532|PMID:30485715|PMID:30739908|PMID:33394117|PMID:33824467|PMID:9477945 620908 Fbn1 fibrillin 1 gene DOID:9007573 Flatfoot ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pes planus PMID:20564469|PMID:24161884|PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9007661 Dwarfism ISO RGD:731577 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Short stature PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9007662 Dwarfism with Tall Vertebrae ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dwarfism with tall vertebrae PMID:25741868 620908 Fbn1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:7240710 20130221 OMIM 620908 Fbn1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:1569206|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:2739055|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 620908 Fbn1 fibrillin 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AAT1 | ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10633129|PMID:11524736|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12938084|PMID:14695540|PMID:16222657|PMID:17418587|PMID:17618372|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19161152|PMID:19293843|PMID:19618372|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:23506379|PMID:23577066|PMID:24033266|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25907466|PMID:25944730|PMID:26272055|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27153395|PMID:27582083|PMID:27959697|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31211626|PMID:31227806|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 620908 Fbn1 fibrillin 1 gene DOID:9008691 Liver Injury IEP D RGD:7794798|PMID:24359594 20140113 RGD mRNA:increased expression:liver (rat) 620908 Fbn1 fibrillin 1 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:731577 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9256 colorectal cancer ISO RGD:731577 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 620908 Fbn1 fibrillin 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7257556|PMID:20836762 20170615 RGD 620908 Fbn1 fibrillin 1 gene DOID:988 mitral valve prolapse ISO RGD:731577 D RGD:1580379|PMID:12918850 19990101 RGD 620908 Fbn1 fibrillin 1 gene DOID:988 mitral valve prolapse ISO RGD:731577 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868 620909 Six3 SIX homeobox 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 620909 Six3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:7240710 20130425 OMIM 620909 Six3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:10369266|PMID:10923031|PMID:11039582|PMID:15221788|PMID:15523651|PMID:17001667|PMID:17584896|PMID:18791198|PMID:18989625|PMID:19346217|PMID:19353631|PMID:20157829|PMID:20531442|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532|PMID:32796691|PMID:34008892 620909 Six3 SIX homeobox 3 gene DOID:0111380 solitary median maxillary central incisor ISO RGD:733474 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:18791198|PMID:19346217|PMID:20157829|PMID:26080100|PMID:26467025|PMID:28492532 620909 Six3 SIX homeobox 3 gene DOID:3883 Lynch syndrome ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 620909 Six3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10369266 620909 Six3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:1599335|PMID:15523651 20070130 RGD 620909 Six3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:1599336|PMID:10369266 20070130 RGD 620909 Six3 SIX homeobox 3 gene DOID:630 genetic disease ISO RGD:733474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620909 Six3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:7240710 20190327 OMIM 620909 Six3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:18791198|PMID:19346217|PMID:20157829|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532 620909 Six3 SIX homeobox 3 gene DOID:9007188 Liver Neoplasms ISO RGD:733474 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 620910 Fbn2 fibrillin 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733428 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:0050646 distal arthrogryposis ISS RGD:733429 D RGD:13592920 20180518 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 620910 Fbn2 fibrillin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733428 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620910 Fbn2 fibrillin 2 gene DOID:0060249 scoliosis ISO RGD:733428 D RGD:12910484|PMID:24833718 20170615 RGD DNA:frameshift mutation, missense mutations:exon:multiple 620910 Fbn2 fibrillin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25558065 620910 Fbn2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:1300364|PMID:11754102 19990101 RGD 620910 Fbn2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:7240710 20130221 OMIM 620910 Fbn2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28166811|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29907982|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32534992|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9737771 620910 Fbn2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:28166811|PMID:28492532|PMID:29926239|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 620910 Fbn2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 620910 Fbn2 fibrillin 2 gene DOID:10283 prostate cancer ISO RGD:733428 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620910 Fbn2 fibrillin 2 gene DOID:10941 intracranial aneurysm ISO RGD:733428 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Brain aneurysm PMID:16835936|PMID:19006240|PMID:25525159|PMID:25741868|PMID:26038974|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:11193 syndactyly ISO RGD:733429 D RGD:1300320|PMID:11285249 19990101 RGD 620910 Fbn2 fibrillin 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26257771|PMID:28492532|PMID:28831199|PMID:31096651|PMID:32534992|PMID:33435129 620910 Fbn2 fibrillin 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098 620910 Fbn2 fibrillin 2 gene DOID:14323 Marfan syndrome ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:29501612 620910 Fbn2 fibrillin 2 gene DOID:2340 craniosynostosis ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:520 aortic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy 620910 Fbn2 fibrillin 2 gene DOID:630 genetic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797416|PMID:11754102|PMID:16531736|PMID:19006240|PMID:24899048|PMID:25741868|PMID:28383543|PMID:28492532|PMID:8653794|PMID:8900230 620910 Fbn2 fibrillin 2 gene DOID:65 connective tissue disease ISO RGD:733428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:28492532|PMID:33435129 620910 Fbn2 fibrillin 2 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:733428 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Arterial dissection 620910 Fbn2 fibrillin 2 gene DOID:9002189 High Myopia ISO RGD:733428 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 620910 Fbn2 fibrillin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:7240710 20150311 OMIM 620910 Fbn2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular degeneration, early-onset PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29926239|PMID:31096651|PMID:9536098 620910 Fbn2 fibrillin 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733428 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 620910 Fbn2 fibrillin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733428 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 620910 Fbn2 fibrillin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 620910 Fbn2 fibrillin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 620910 Fbn2 fibrillin 2 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:733428 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 620911 Nfasc neurofascin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620911 Nfasc neurofascin gene DOID:12849 autistic disorder ISO RGD:733496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620911 Nfasc neurofascin gene DOID:1540 parathyroid carcinoma ISO RGD:733496 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620911 Nfasc neurofascin gene DOID:630 genetic disease ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 620911 Nfasc neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:7240710 20190424 OMIM 620911 Nfasc neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central and peripheral motor dysfunction PMID:25741868|PMID:28940097|PMID:30124836|PMID:30850329|PMID:31501903 620911 Nfasc neurofascin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620911 Nfasc neurofascin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733496 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620912 Nfs1 NFS1 cysteine desulfurase gene DOID:630 genetic disease ISO RGD:1350532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620912 Nfs1 NFS1 cysteine desulfurase gene DOID:9005483 Combined Oxidative Phosphorylation Deficiency 52 ISO RGD:1350532 D RGD:7240710 20210707 OMIM 620912 Nfs1 NFS1 cysteine desulfurase gene DOID:9005483 Combined Oxidative Phosphorylation Deficiency 52 ISO RGD:1350532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 PMID:16199547|PMID:24498631|PMID:25741868|PMID:28492532|PMID:33457206 620913 Hsf1 heat shock transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730995 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24256636 620913 Hsf1 heat shock transcription factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 620913 Hsf1 heat shock transcription factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 620913 Hsf1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease IEP D RGD:10402771|PMID:23665061 20151028 RGD protein:decreased expression:cerebellum (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730996 D RGD:10402385|PMID:24849358 20151022 RGD protein:altered localization:promoter (mouse) 620913 Hsf1 heat shock transcription factor 1 gene DOID:11383 cryptorchidism IEP D RGD:10402945|PMID:21480429 20151103 RGD protein:increased expression:testis, spermatocyte, nucleus (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730995 D RGD:10402372|PMID:16051598 20151021 RGD human gene in a mouse model 620913 Hsf1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730996 D RGD:10402387|PMID:19443488 20151022 RGD protein:decreased expression:liver (mouse) 620913 Hsf1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:730996 D RGD:10402386|PMID:24381308 20151022 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease IEP D RGD:10402753|PMID:24296154 20151028 RGD protein:decreased expression:midbrain (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease treatment IDA D RGD:10402545|PMID:24852355 20151026 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730995 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22885793 620913 Hsf1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10402389|PMID:26070787 20151022 RGD protein:increased expression:brain, nucleus (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:10402772|PMID:23528677 20151028 RGD associated with Heart Arrest 620913 Hsf1 heat shock transcription factor 1 gene DOID:4621 holoprosencephaly ISO RGD:730995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 620913 Hsf1 heat shock transcription factor 1 gene DOID:6000 congestive heart failure IEP D RGD:10402754|PMID:24285117 20151028 RGD protein:altered localization:heart left ventricle (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:630 genetic disease ISO RGD:730995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620913 Hsf1 heat shock transcription factor 1 gene DOID:767 muscular atrophy treatment IDA D RGD:10402941|PMID:21983076 20151103 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:9000099 Experimental Colitis IEP D RGD:10402402|PMID:25608526 20151023 RGD protein:increased acetylation:colon (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:9000972 Fever IEP D RGD:10402781|PMID:22427437 20151029 RGD associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:9002395 Hypothermia IEP D RGD:10402397|PMID:25996932 20151023 RGD mRNA:increased expression:prostate gland ventral lobe (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:9002669 Hypoxia IEP D RGD:10402813|PMID:22156356 20151030 RGD protein:increased expression:gastric mucosa (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:9003936 Cardiomegaly treatment IDA D RGD:10402399|PMID:25804640 20151023 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:9004562 Smoke Inhalation Injury treatment IDA D RGD:10402773|PMID:23499678 20151028 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:9004649 Heat Stroke treatment IDA D RGD:10402774|PMID:23219797 20151028 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:9005930 Endotoxemia treatment IDA D RGD:10402404|PMID:25571843 20151023 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:10402775|PMID:23102208 20151028 RGD protein:increased expression:kidney (rat) 620913 Hsf1 heat shock transcription factor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730996 D RGD:10402789|PMID:22426029 20151029 RGD 620913 Hsf1 heat shock transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730996 D RGD:10402557|PMID:24496227 20151026 RGD protein:increased expression:heart (mouse) 620914 Tcf3 transcription factor 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 620914 Tcf3 transcription factor 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 620914 Tcf3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:7240710 20220831 OMIM 620914 Tcf3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant PMID:17576681|PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048|PMID:9536098 620914 Tcf3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:7240710 20220831 OMIM 620914 Tcf3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive PMID:28532655|PMID:30063982 620914 Tcf3 transcription factor 3 gene DOID:0111152 multicentric Castleman disease ISO RGD:1351290 D RGD:8554872 20190924 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 620914 Tcf3 transcription factor 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 620914 Tcf3 transcription factor 3 gene DOID:10283 prostate cancer severity ISO RGD:1351290 D RGD:13506819|PMID:22564737 20180220 RGD 620914 Tcf3 transcription factor 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1351290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 620914 Tcf3 transcription factor 3 gene DOID:2583 agammaglobulinemia ISO RGD:1351290 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 620914 Tcf3 transcription factor 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 620914 Tcf3 transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048 620914 Tcf3 transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1351290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1967982|PMID:17244677 620914 Tcf3 transcription factor 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1351290 D RGD:11533019|PMID:26212009 20170915 RGD associated with colon cancer 620914 Tcf3 transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351290 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620914 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351290 D RGD:13432061|PMID:19828471 20170915 RGD 620914 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:13432058|PMID:25375219 20170915 RGD DNA, mRNA:hypomethylation, increased expression 620914 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:13432062|PMID:23940558 20170915 RGD DNA:SNP:3' utr:rs1052918 (human) 620914 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:13432063|PMID:24454819 20170915 RGD 620914 Tcf3 transcription factor 3 gene DOID:9538 multiple myeloma ISO RGD:1351290 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 620914 Tcf3 transcription factor 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351290 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 620915 Trak2 trafficking kinesin protein 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620915 Trak2 trafficking kinesin protein 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620915 Trak2 trafficking kinesin protein 2 gene DOID:630 genetic disease ISO RGD:1352646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620915 Trak2 trafficking kinesin protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620915 Trak2 trafficking kinesin protein 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352646 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620915 Trak2 trafficking kinesin protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352646 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620915 Trak2 trafficking kinesin protein 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1352691 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0060075 estrogen-receptor positive breast cancer treatment ISO RGD:1352691 D RGD:14402408|PMID:28881720 20190530 RGD DNA:mutations:plasma: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0060586 Noonan syndrome 8 ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:25741868|PMID:26619011|PMID:27631024 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:17376864|PMID:18829572|PMID:19366826|PMID:21824802|PMID:22120714|PMID:22228622|PMID:22729224|PMID:22949682|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080199 colorectal carcinoma severity ISO RGD:1352691 D RGD:14402406|PMID:17546593 20190530 RGD DNA:mutations:exons: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:15930273|PMID:17376864|PMID:19366826|PMID:22120714|PMID:22658544|PMID:23946963|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:34008892 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:1352691 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:13207409|PMID:22729222 20170727 RGD DNA: missense mutations: exon :p.H1047R, p.H1047L 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:7240710 20141015 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:7240710 20170301 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 5 PMID:17376864|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30197175|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:10040950|PMID:24498161 20150506 RGD protein:increased expression:cholangiocyte 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:7240710 20160113 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22729224|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0111529 familial multiple nevi flammei ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:22658544|PMID:23946963|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34008892 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:0111546 Currarino syndrome ISO RGD:1352691 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:1352691 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:22162582|PMID:22162589|PMID:22271473|PMID:25157968|PMID:25741868|PMID:26619011 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10480 diaphragmatic eventration ISO RGD:1352691 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Diaphragmatic eventration PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:7240710 20220209 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:126790641|PMID:30747208 20210428 RGD protein:increased expression:stomach (human) 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:40818110|PMID:30952761 20201111 RGD associated with Epstein-Barr Virus Infections; DNA,protein:mutations:exon: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:40818111|PMID:26980034 20201111 RGD Epstein-Barr Virus negative patient 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1115 sarcoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1115 sarcoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:11934 head and neck cancer ISO RGD:1352691 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1324 lung cancer ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:19366826|PMID:25157968|PMID:25741868|PMID:26619011 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:14250 Down syndrome ISO RGD:1352691 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Down syndrome PMID:25741868 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:14566 disease of cellular proliferation ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:7240710 20180711 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1749 squamous cell carcinoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:1984 rectal benign neoplasm susceptibility ISO RGD:1352691 D RGD:5685669|PMID:20622004 20120116 RGD DNA:SNP:intron: (rs7651265) (human) 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:234 colon adenocarcinoma ISO RGD:1352691 D RGD:5685670|PMID:17575153 20080313 RGD DNA:mutation 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2394 ovarian cancer ISO RGD:1352691 D RGD:7240710 20190213 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2513 basal cell carcinoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2671 transitional cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2752 glycogen storage disease II ISO RGD:1352691 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:15016963|PMID:21266528|PMID:23334666 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2871 endometrial carcinoma ISO RGD:1352691 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:18829572|PMID:22228622|PMID:22729224|PMID:22949682|PMID:23246288|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30231930|PMID:32595695|PMID:33077954 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:299 adenocarcinoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3068 glioblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:2290476|PMID:16847462 20080313 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3121 gallbladder cancer ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3149 keratoacanthoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:22949682|PMID:23246288|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3450 cutaneous Paget's disease severity ISO RGD:1352691 D RGD:14402410|PMID:22522847 20190530 RGD DNA:mutations:multiple: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3458 breast adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3459 breast carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3571 liver cancer susceptibility ISO RGD:1551142 D RGD:14402407|PMID:20583210 20190530 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:363 uterine cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3905 lung carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352691 D RGD:5133242|PMID:20951313 20110608 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352691 D RGD:5133243|PMID:21277552 20110608 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352691 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22135231 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4465 papillary renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4511 breast angiosarcoma ISO RGD:1352691 D RGD:151665102|PMID:32123305 20220310 RGD DNA:mutation:multiple (human) 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:4948 gallbladder carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5041 esophageal cancer ISO RGD:1352691 D RGD:152995510|PMID:27188433 20220628 RGD protein:increased expression:esophagus (human) 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5411 lung oat cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23873848 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930273|PMID:17376864|PMID:20952405|PMID:22209294|PMID:22729224|PMID:24265155|PMID:24497998|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28492532|PMID:28941273|PMID:29549527 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:6457 Cowden syndrome ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16199547|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17576681|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22430209|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23754335|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28475857|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:31780696|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34402524|PMID:34496175|PMID:9536098 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:7240710 20130221 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:6536 plasma cell neoplasm ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:2290476|PMID:16847462 20080313 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:7240710 20130221 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1352691 D RGD:14402405|PMID:16331247 20190529 RGD DNA:mutation:exon: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352691 D RGD:14402404|PMID:24673525 20190529 RGD DNA:mutations:exons: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1352691 D RGD:11556371|PMID:26823876 20190530 RGD DNA:SNPs: :rs17849071,rs17849079(human) 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:769 neuroblastoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352691 D RGD:13432030|PMID:25550888 20170913 RGD associated with Colorectal Neoplasms 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1352691 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9000918 Disease Progression ISO RGD:1352691 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352691 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352691 D RGD:14402409|PMID:23302486 20190530 RGD associated with colorectal cancer;DNA:mutations:: 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19366826|PMID:22228622|PMID:22729224|PMID:22949682|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:32595695|PMID:33077954 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9001282 Cerebral Cavernous Malformation 4 ISO RGD:1352691 D RGD:7240710 20220629 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352691 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:31025080 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1352691 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1551142 D RGD:13207413|PMID:22214849 20170728 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352691 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29610475 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352691 D RGD:8693397|PMID:23759327 20140715 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:7240710 20141015 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21266528|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26822237|PMID:27126994|PMID:27191687|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28191889|PMID:28425981|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:32733937|PMID:32778138|PMID:33077954|PMID:34008892|PMID:34170046|PMID:34402524|PMID:34496175|PMID:34733958 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28502725|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:33077954|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352691 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352691 D RGD:2290476|PMID:16847462 20080313 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:33077954|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9003133 Hypertelorism ISO RGD:1352691 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9003191 Vascular Malformations ISO RGD:1551142 D RGD:13207411|PMID:25958091 20170727 RGD DNA:missense mutation:exon 20:p.H1047R (mouse) 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9003196 Penile Neoplasms ISO RGD:1352691 D RGD:11554173 20200422 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9003571 Paraproteinemias ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9003816 Macrocephaly ISO RGD:1352691 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Megalencephaly, autosomal dominant PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:15930273|PMID:17376864|PMID:22120714|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9004657 Weight Gain ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1352691 D RGD:2290476|PMID:16847462 20080313 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1352691 D RGD:7240710 20130221 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:7240710 20200304 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrodactyly PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1352691 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006257 Growth Disorders ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:7240710 20200923 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1352691 D RGD:2290476|PMID:16847462 20080313 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1551142 D RGD:156430337|PMID:36044268 20230228 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352691 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9007096 Stroke ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stroke PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9007364 Mouth Neoplasms ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9007364 Mouth Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9007502 Brain Neoplasms ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9007715 Endometrial Neoplasms ISO RGD:1352691 D RGD:4143515|PMID:19078924 20100929 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008237 Hemimegalencephaly ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:25741868|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352691 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008797 Facial Asymmetry ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868|PMID:28492532 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19196980|PMID:19685490|PMID:20479250|PMID:21633166|PMID:22370636|PMID:25267515|PMID:25358515|PMID:26587011 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:2290476|PMID:16847462 20080313 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:2313763|PMID:18955974 20091014 RGD 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:7240710 20200226 OMIM 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 620916 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene DOID:9538 multiple myeloma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:0060903 thrombosis IMP D RGD:1580861|PMID:15834429 19990101 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:10283 prostate cancer disease_progression ISO RGD:732496 D RGD:13506810|PMID:18372911 20180219 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:10283 prostate cancer treatment ISO RGD:732496 D RGD:13506809|PMID:20103642 20180219 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:1380 endometrial cancer onset ISO RGD:732496 D RGD:13674181|PMID:28002804 20180711 RGD mRNA:increased expression:endometrium (human) 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:1984 rectal benign neoplasm disease_progression ISO RGD:732496 D RGD:13432031|PMID:25473181 20170913 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732496 D RGD:13217420|PMID:18755892 20170912 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:3068 glioblastoma ISO RGD:732496 D RGD:13782050|PMID:21188471 20180816 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:3068 glioblastoma disease_progression ISO RGD:732496 D RGD:11343921|PMID:26956052 20180816 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:732496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:630 genetic disease ISO RGD:732496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:732496 D RGD:13432030|PMID:25550888 20170913 RGD associated with Colorectal Neoplasms 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732496 D RGD:151893490|PMID:28756200 20220421 RGD 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:732496 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:732496 D RGD:13441594|PMID:17427168 20171030 RGD mRNA:increased expression:endometrium (human) 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732496 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9256 colorectal cancer ameliorates ISO RGD:732496 D RGD:151893289|PMID:30789971 20220420 RGD human cells in mouse model 620917 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732496 D RGD:13506799|PMID:11812753 20180216 RGD 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:0050120 hemophagocytic lymphohistiocytosis ISS RGD:1551470 D RGD:13592920 20180518 MouseDO 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISS RGD:1551470 D RGD:13592920 20180518 MouseDO OMIM:203300 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:0060831 Griscelli syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome PMID:10835631|PMID:12148598|PMID:16551969|PMID:18350256|PMID:19953648|PMID:23160464|PMID:24033266|PMID:25741868|PMID:26684649|PMID:28492532 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:7240710 20130221 OMIM 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:12058346|PMID:12148598|PMID:12531900|PMID:12648328|PMID:15163896|PMID:15475639|PMID:16199547|PMID:16278825|PMID:16551969|PMID:17085000|PMID:17576681|PMID:18350256|PMID:18397837|PMID:18403584|PMID:19030707|PMID:19953648|PMID:22475297|PMID:23160464|PMID:24033266|PMID:24678334|PMID:25071262|PMID:25312756|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:25901543|PMID:26684649|PMID:26880764|PMID:27016801|PMID:27416802|PMID:27781387|PMID:28353193|PMID:28492532|PMID:28585352|PMID:28936583|PMID:29357941|PMID:29522846|PMID:30104219|PMID:30290665|PMID:30697212|PMID:30899265|PMID:30934652|PMID:31233462|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32860008|PMID:32888943|PMID:32965739|PMID:33225392|PMID:33362801|PMID:34573280|PMID:34796988|PMID:8319705|PMID:9536098 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:10835631|PMID:15163896|PMID:23160464|PMID:25741868|PMID:28492532 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:1354398 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISS RGD:1551470 D RGD:13592920 20180518 MouseDO OMIM:185050 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1354398 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10835631|PMID:15475639|PMID:16199547|PMID:16278825|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:24678334|PMID:25071262|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:26880764|PMID:27016801|PMID:27781387|PMID:28353193|PMID:28492532|PMID:29357941|PMID:29522846|PMID:30290665|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32888943|PMID:32965739|PMID:34573280 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1354398 D RGD:1601587|PMID:12531900 20070425 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10835631|PMID:23160464|PMID:25741868|PMID:28492532|PMID:32375849|PMID:34796988 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:1354398 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354398 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:9005660 Hypopigmentation ISO RGD:1354398 D RGD:1601587|PMID:12531900 20070425 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon: L130P, A152P 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:9005835 Congenital Abnormalities ISO RGD:1354398 D RGD:1600821|PMID:12058346 20070327 RGD Griscelli syndrome type I. OMIM:214450 620918 Rab27a RAB27A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1354398 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 620919 Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620919 Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha gene DOID:630 genetic disease ISO RGD:733714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620919 Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733714 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 620919 Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha gene DOID:9002884 Emphysema ISO RGD:733714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 620919 Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha gene DOID:9003882 Chromosomal Instability ISO RGD:733714 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25772433 620919 Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733714 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25772433 620920 Ppp2r2c protein phosphatase 2, regulatory subunit B, gamma gene DOID:630 genetic disease ISO RGD:732376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620920 Ppp2r2c protein phosphatase 2, regulatory subunit B, gamma gene DOID:9002884 Emphysema ISO RGD:732376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 620921 Khdrbs3 KH RNA binding domain containing, signal transduction associated 3 gene DOID:630 genetic disease ISO RGD:1354239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620922 Rab3b RAB3B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620923 Rab3c RAB3C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620923 Rab3c RAB3C, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732895 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620924 Rab3d RAB3D, member RAS oncogene family gene DOID:0050990 episodic ataxia type 2 ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 620924 Rab3d RAB3D, member RAS oncogene family gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 620924 Rab3d RAB3D, member RAS oncogene family gene DOID:0111254 glutaric acidemia I ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 620924 Rab3d RAB3D, member RAS oncogene family gene DOID:3413 alpha-mannosidosis ISO RGD:736647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 620924 Rab3d RAB3D, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0050328 congenital hypothyroidism IEP D RGD:10059677|PMID:20515651 20150825 RGD mRNA:decreased expression:cerebellum (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0050700 cardiomyopathy ISS RGD:1332548 D RGD:13592920 20180518 MouseDO 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0050855 renal fibrosis IEP D RGD:7242027|PMID:21784897 20130321 RGD associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0060180 colitis IDA D RGD:6484264|PMID:22126533 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0060611 abdominal obesity-metabolic syndrome IEP D RGD:7241841|PMID:23320128 20130318 RGD mRNA:increased expression:gastrocnemius muscle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:6484527|PMID:21373642 20120621 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1342674 D RGD:7241847|PMID:23269818 20130319 RGD associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080855 Parkinsonism ISO RGD:1332548 D RGD:6484262|PMID:22246294 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080855 Parkinsonism ISO RGD:1332548 D RGD:6484267|PMID:22040668 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080855 Parkinsonism ISO RGD:1332548 D RGD:6484271|PMID:21376232 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1342674 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:10376 amblyopia IEP D RGD:10059668|PMID:20438809 20150825 RGD protein:decreased expression:visual cortex (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:10603 glucose intolerance ISO RGD:1332548 D RGD:7242049|PMID:19158402 20130325 RGD mRNA:decreased expression:quadriceps muscle (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease IDA D RGD:7242180|PMID:22510382 20130329 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:1332548 D RGD:6484260|PMID:22540007 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1342674 D RGD:7242017|PMID:19273754 20130320 RGD mRNA, protein:decreased expression:hippocampal formation (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:1074 kidney failure IDA D RGD:7242044|PMID:22076434 20130322 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:10871 age related macular degeneration ISS RGD:1332548 D RGD:13592920 20200220 MouseDO 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:114 heart disease IDA D RGD:7242188|PMID:23533487 20130401 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:11446 sciatic neuropathy IDA D RGD:7242051|PMID:22996345 20130325 RGD associated with Diabetes Mellitus, Experimental 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:11716 prediabetes syndrome IEP D RGD:9586046|PMID:24361842 20150824 RGD protein:decreased expression:testis (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:1184 nephrotic syndrome IEP D RGD:7242024|PMID:22874759 20130321 RGD protein:decreased expression:kidney cortex (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12217 Lewy body dementia ISO RGD:1342674 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12236 primary biliary cholangitis IEP D RGD:6484526 20120621 RGD mRNA, protein:decreased expression:liver 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease IEP D RGD:10395291|PMID:22813864 20150828 RGD protein:increased expression:subthalamic nucleus (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:6484269|PMID:21651979 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:7242018|PMID:17018277 20130320 RGD mRNA:decreased expression:medium spiny neuron (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:6484259|PMID:22589246 20120619 RGD DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:7242018|PMID:17018277 20130320 RGD mRNA:decreased expression:caudate nucleus (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease no_association ISO RGD:1342674 D RGD:10053656|PMID:19133136 20150717 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:10053656|PMID:19133136 20150717 RGD DNA:snps, haplotypes:multiple (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:10053663|PMID:24383721 20150717 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:10395290|PMID:21211002 20150828 RGD DNA:snp:promoter:g.-1437T>C (rs2970870) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:6770890|PMID:21595933 20150717 RGD DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1332548 D RGD:7242018|PMID:17018277 20150717 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1342674 D RGD:10395289|PMID:21757867 20150828 RGD protein:increased expression:brain (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment IDA D RGD:10053650|PMID:21493629 20150717 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:1332548 D RGD:10053648|PMID:20736066 20150717 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1342674 D RGD:7242032|PMID:18162502 20130321 RGD DNA:snps:cds, 3' utr:p.T612M, *2380G>A (rs3736265, rs3774923) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12930 dilated cardiomyopathy treatment IDA D RGD:2311057|PMID:19242323 20150821 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1332548 D RGD:7241824|PMID:23406886 20130315 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:6484271|PMID:21376232 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease onset ISO RGD:1342674 D RGD:6484270|PMID:21595954 20120619 RGD DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:1907 malignant fibrous histiocytoma treatment ISO RGD:1342674 D RGD:7242013|PMID:23166610 20130320 RGD human cell line in mouse model 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:1909 melanoma severity ISO RGD:1342674 D RGD:7241823|PMID:23416000 20130315 RGD mRNA:increased expression:tumor (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:263 kidney cancer ISO RGD:1342674 D RGD:7242016|PMID:23150719 20130320 RGD associated with Birt-Hogg-Dube Syndrome; mRNA:increased expression:kidney (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:3021 acute kidney failure ISO RGD:1332548 D RGD:7242026|PMID:21881206 20130321 RGD associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1342674 D RGD:6484530|PMID:20732852 20120621 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332548 D RGD:7242019|PMID:23147503 20130320 RGD mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:6484265|PMID:22102466 20120619 RGD human gene in mouse model 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:7242019|PMID:23147503 20130320 RGD mRNA:decreased expression:motor cortex, muscle (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:3891 placental insufficiency IEP D RGD:10059693|PMID:18319353 20150825 RGD mRNA, protein:decreased expression:gastrocnemius muscle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia IDA D RGD:7242061|PMID:22922125 20130326 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia IEP D RGD:10059674|PMID:19367030 20150825 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia treatment ISO RGD:1332548 D RGD:7241854|PMID:23499865 20130319 RGD associated with Obesity 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:4448 macular degeneration ISO RGD:1342674 D RGD:7241840|PMID:23335958 20130318 RGD DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:5419 schizophrenia ISO RGD:1332548 D RGD:7241837|PMID:23348010 20130318 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction IEP D RGD:7242181|PMID:22503866 20130329 RGD protein:decreased expression:heart (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:6484266|PMID:22087236 20140129 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1332548 D RGD:7241843|PMID:23297372 20130318 RGD mRNA:decreased expression:heart (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1342674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19808358|PMID:22503866 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure onset ISO RGD:1332548 D RGD:7241838|PMID:23342071 20130318 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:630 genetic disease ISO RGD:1342674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:784 chronic kidney disease ISO RGD:1332548 D RGD:7242023|PMID:22648295 20130320 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:7998 hyperthyroidism IEP D RGD:10059691|PMID:18669938 20150825 RGD protein:increased expression:soleus muscle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy IDA D RGD:6484532|PMID:20566666 20120621 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy IEP D RGD:5686899|PMID:22003111 20130403 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000039 Spinal Cord Injuries IDA D RGD:6484263|PMID:22208735 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000669 Ventricular Dysfunction, Right treatment IEP D RGD:155226858|PMID:22523357 20220916 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1342674 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22795790 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:1332548 D RGD:6484257|PMID:22642418 20120619 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries treatment IEP D RGD:10059630|PMID:24345766 20150820 RGD protein:decreased expression:frontal cortex (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9001542 Albuminuria ISO RGD:1342674 D RGD:7242025|PMID:22684233 20130321 RGD associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:7242027|PMID:21784897 20130321 RGD mRNA:decreased expression:kidney (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:7242045|PMID:19900151 20130322 RGD DNA:polymorphism:exon:p.G482S (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002231 Fetal Growth Retardation IEP D RGD:10059649|PMID:18433551 20150824 RGD mRNA, protein:increased expression:liver (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002399 Takotsubo Cardiomyopathy IEP D RGD:7241846|PMID:23271280 20130319 RGD mRNA:increased expression:myocardium (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly IEP D RGD:7242192|PMID:22105890 20130401 RGD protein:increased expression:myocardium of left ventricle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:1332548 D RGD:10053662|PMID:14726475 20150717 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004484 Sepsis IEP D RGD:6484531|PMID:20647557 20120621 RGD mRNA:decreased expression:skeletal muscle 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1342674 D RGD:6484261|PMID:22392034 20120619 RGD DNA:SNP:cds:p.G482S (rs8192678) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1332548 D RGD:7297042|PMID:18802029 20150821 RGD mRNA:increased expression:heart (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311391|PMID:18270681 20090909 RGD mRNA:decreased expression:pancreatic islet 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332548 D RGD:7242175|PMID:22561641 20130327 RGD protein:decreased expression:dorsal root ganglia (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7241845|PMID:23272147 20130319 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment IMP D RGD:2311445|PMID:19520786 20150824 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:7242015|PMID:23152488 20130320 RGD protein:decreased expression:heart right ventricle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries IDA D RGD:7242065|PMID:22892143 20130326 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1332548 D RGD:2311405|PMID:19553562 20150824 RGD mouse gene in a rat model 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:10059636|PMID:24918615 20150821 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006646 Metabolic Syndrome IEP D RGD:10059661|PMID:20383225 20150824 RGD mRNA:decreased expression:gastrocnemius muscle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007170 Bowen's Disease ISO RGD:1342674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance IEP D RGD:7242170|PMID:22658649 20130327 RGD mRNA:decreased expression:liver (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:1342674 D RGD:7241821|PMID:23449621 20130315 RGD DNA:missense mutation:cds:p.G482S rs8192678 (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007801 Diseases of the Aged IEP D RGD:10401813|PMID:24336883 20151007 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1332548 D RGD:10059669|PMID:19096023 20150825 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9008824 Sarcopenia IEP D RGD:10053649|PMID:16870628 20150717 RGD mRNA:altered expression:gastrocnemius muscle (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10059689|PMID:17158179 20150825 RGD mRNA:decreased expression:soleus muscle:type I muscle fiber (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332548 D RGD:7242175|PMID:22561641 20140129 RGD protein:decreased expression:dorsal root ganglia 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15592662|PMID:17317762 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:2311391|PMID:18270681 20090710 RGD DNA:polymorphism:exon:p.G482S (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:7241849|PMID:23251491 20130319 RGD DNA:hypermethylation:promoter:g.-383 (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:7242009|PMID:23210442 20130320 RGD protein:decreased expression:vastus lateralis (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342674 D RGD:7242043|PMID:12606537 20130322 RGD DNA:polymorphism:exon:p.G482S (human, Pima Indians) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1342674 D RGD:7242032|PMID:18162502 20130321 RGD DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:7242067|PMID:22824914 20130326 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332548 D RGD:7241851|PMID:23250358 20130319 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease IEP D RGD:7242179|PMID:22521344 20130329 RGD protein:decreased methylation:liver (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease ISO RGD:1332548 D RGD:7242012|PMID:23174781 20130320 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9452 fatty liver disease treatment IDA D RGD:7241844|PMID:23274094 20130319 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9675 pulmonary emphysema ISO RGD:1332548 D RGD:7242020|PMID:23144332 20130320 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1332548 D RGD:7242046|PMID:19542201 20130322 RGD mRNA:altered expression:heart, brain, mitochondrion (mouse) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity IEP D RGD:7242183|PMID:22401878 20130329 RGD mRNA:increased expression:retroperitoneal fat pad (rat) 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity treatment IDA D RGD:7241848|PMID:23256146 20130319 RGD 620925 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:1332548 D RGD:7242011|PMID:23180161 20130320 RGD 620926 Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 gene DOID:0080600 COVID-19 ISO RGD:1348552 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 620926 Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 gene DOID:10652 Alzheimer's disease ISO RGD:1348552 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 620926 Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 gene DOID:630 genetic disease ISO RGD:1348552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620926 Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348552 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:10603 glucose intolerance IEP D RGD:1642794|PMID:15281014 20071016 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:1642794|PMID:15281014 20071016 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:2018 hyperinsulinism IEP D RGD:1642794|PMID:15281014 20071016 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:5844 myocardial infarction IEP D RGD:1642800|PMID:17034771 20071017 RGD protein:decreased expression:infarcted heart 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:630 genetic disease ISO RGD:1604940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1553168 D RGD:1642790|PMID:16611988 20071016 RGD 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:9007692 Insulin Resistance IDA D RGD:1642795|PMID:17400720 20071016 RGD protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:9970 obesity IEP D RGD:1642794|PMID:15281014 20071016 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle 620927 Slc27a1 solute carrier family 27 member 1 gene DOID:9970 obesity susceptibility ISO RGD:1553168 D RGD:1642790|PMID:16611988 20071016 RGD 620928 Slc6a7 solute carrier family 6 member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620928 Slc6a7 solute carrier family 6 member 7 gene DOID:630 genetic disease ISO RGD:734004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620928 Slc6a7 solute carrier family 6 member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 620929 Msx1 msh homeobox 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:731562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 620929 Msx1 msh homeobox 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:731562 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 620929 Msx1 msh homeobox 1 gene DOID:0050567 orofacial cleft ISS RGD:731563 D RGD:13592920 20180518 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 620929 Msx1 msh homeobox 1 gene DOID:0050591 tooth agenesis ISO RGD:731562 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:24914010 620929 Msx1 msh homeobox 1 gene DOID:0050591 tooth agenesis ISS RGD:731563 D RGD:13592920 20180518 MouseDO OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926 620929 Msx1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:7240710 20130221 OMIM 620929 Msx1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 5 PMID:12807959|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:25741868|PMID:28492532 620929 Msx1 msh homeobox 1 gene DOID:11383 cryptorchidism IEP D RGD:5132606|PMID:18222913 20110527 RGD 620929 Msx1 msh homeobox 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731562 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 620929 Msx1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 620929 Msx1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:1600484|PMID:8696335 20070309 RGD autosomal dominant hypodontia, HYD1, OMIM:106600 620929 Msx1 msh homeobox 1 gene DOID:630 genetic disease ISO RGD:731562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620929 Msx1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:7240710 20130221 OMIM 620929 Msx1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:11369996|PMID:12807959|PMID:14630905|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:23991204|PMID:25741868|PMID:25874811|PMID:27917906|PMID:28166811|PMID:28492532|PMID:30192788|PMID:9484139|PMID:9742121 620929 Msx1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:12701100|PMID:15301380 620929 Msx1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:5132609|PMID:12807959 20110527 RGD DNA:mutations, SNPs:multiple (human) 620929 Msx1 msh homeobox 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 620929 Msx1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:7240710 20190315 OMIM 620929 Msx1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:10742093|PMID:12097313|PMID:15264286|PMID:16498076|PMID:24914010|PMID:25741868|PMID:28492532|PMID:8696335|PMID:9742121 620929 Msx1 msh homeobox 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731562 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 620929 Msx1 msh homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:14630905|PMID:14654219|PMID:15301380 620929 Msx1 msh homeobox 1 gene DOID:9008763 Femoral Fractures IEP D RGD:5132608|PMID:16451220 20110527 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte 620929 Msx1 msh homeobox 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:731562 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 620929 Msx1 msh homeobox 1 gene DOID:9296 cleft lip ISO RGD:731562 D RGD:5132609|PMID:12807959 20110527 RGD DNA:mutations, SNPs:multiple (human) 620930 Fbp2 fructose-bisphosphatase 2 gene DOID:12642 hiatus hernia ISO RGD:732425 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia 620930 Fbp2 fructose-bisphosphatase 2 gene DOID:630 genetic disease ISO RGD:732425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620930 Fbp2 fructose-bisphosphatase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:732425 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 620930 Fbp2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:7240710 20220518 OMIM 620930 Fbp2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting PMID:33977262 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:1342 congenital hypoplastic anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:2340 craniosynostosis ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:9002304 Prostatic Neoplasms ISO RGD:733928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 620931 Rab4b RAB4B, member RAS oncogene family gene DOID:9269 maple syrup urine disease ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 620933 Dctpp1 dCTP pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1601967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620934 Mylk2 myosin light chain kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11733062|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572 620934 Mylk2 myosin light chain kinase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:7240710 20130425 OMIM 620934 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572|PMID:9536098 620934 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31568572|PMID:9536098 620934 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31376648|PMID:31568572|PMID:34426522|PMID:9536098 620934 Mylk2 myosin light chain kinase 2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:14499 Fabry disease ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:630 genetic disease ISO RGD:737455 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737455 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 620934 Mylk2 myosin light chain kinase 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:1580244|PMID:9005973 20150323 RGD associated with Diabetes Mellitus, Experimental 620934 Mylk2 myosin light chain kinase 2 gene DOID:9007096 Stroke ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stroke PMID:23861362|PMID:25741868|PMID:28492532 620934 Mylk2 myosin light chain kinase 2 gene DOID:9007820 Sudden Death ISO RGD:737455 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 620935 Cry2 cryptochrome circadian regulator 2 gene DOID:0050444 infantile Refsum disease ISO RGD:732507 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 620935 Cry2 cryptochrome circadian regulator 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 620935 Cry2 cryptochrome circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:732507 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620935 Cry2 cryptochrome circadian regulator 2 gene DOID:630 genetic disease ISO RGD:732507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620935 Cry2 cryptochrome circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:732507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 620935 Cry2 cryptochrome circadian regulator 2 gene DOID:905 Zellweger syndrome ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 620936 Rab5a RAB5A, member RAS oncogene family gene DOID:0060417 3p deletion syndrome ISO RGD:1342715 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 620936 Rab5a RAB5A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1342715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620936 Rab5a RAB5A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1342715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620937 Mlh1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:7240710 20130221 OMIM 620937 Mlh1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10037723|PMID:10323887|PMID:10422993|PMID:10471527|PMID:10495924|PMID:10534773|PMID:10573010|PMID:10713887|PMID:10874307|PMID:10970186|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11427529|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11781295|PMID:11793442|PMID:11920650|PMID:11948175|PMID:12095971|PMID:12362047|PMID:12386821|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:14635101|PMID:14699485|PMID:15173238|PMID:15254659|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16199547|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17312306|PMID:17348456|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18205192|PMID:18383312|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18931482|PMID:19072991|PMID:19116412|PMID:19324997|PMID:19419416|PMID:19526325|PMID:19690142|PMID:19698169|PMID:19731080|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21952876|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:24032978|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:25133505|PMID:25477341|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26053027|PMID:26247049|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27064304|PMID:27498913|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27647783|PMID:27978560|PMID:28157215|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:29520894|PMID:29596542|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31697235|PMID:31784484|PMID:32040686|PMID:32295079|PMID:32587781|PMID:32635641|PMID:32659497|PMID:32986223|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33821390|PMID:33868589|PMID:35223509|PMID:36988593|PMID:4063166|PMID:7705822|PMID:8145827|PMID:8198129|PMID:8521398|PMID:8571956|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8872463|PMID:8880570|PMID:8938136|PMID:9234704|PMID:9311737|PMID:9322509|PMID:9377556|PMID:9506527|PMID:9536098|PMID:9697702|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:0060058 lymphoma ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15700306 620937 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619 620937 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25110875|PMID:25117503|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32741062|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:34039291|PMID:34545850|PMID:34680242|PMID:35223509|PMID:35467778|PMID:36073783|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25077178 620937 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:7240710 20130425 OMIM 620937 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:19015241|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21636617 620937 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21785361|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24292105|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25077178|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27295708|PMID:27300758|PMID:27435373|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28259476|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758216|PMID:29785566|PMID:29866690|PMID:29887214|PMID:29922827|PMID:30019097|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30623411|PMID:30720243|PMID:30729418|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31857677|PMID:31867841|PMID:31881334 620937 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32295079|PMID:32363481|PMID:32459922|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33309985|PMID:33471991|PMID:33619096|PMID:33672345|PMID:33693762|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34178123|PMID:34347074|PMID:34359559|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36988593|PMID:7557107|PMID:7584997|PMID:7757073|PMID:8128251|PMID:8145827|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8938136|PMID:8940269|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9806477|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism 620937 Mlh1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722|PMID:30322717|PMID:30362666|PMID:30521064|PMID:30720243|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605 620937 Mlh1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34408140|PMID:35223509|PMID:7757073|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:10534 stomach cancer ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:11151427|PMID:12362047|PMID:12547705|PMID:12624141|PMID:12655568|PMID:14871975|PMID:14961575|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16451135|PMID:17453009|PMID:17569143|PMID:17576681|PMID:18561205|PMID:19690142|PMID:19731080|PMID:20233461|PMID:21034533|PMID:21311894|PMID:21681552|PMID:22886683|PMID:23760103|PMID:24333619|PMID:24362816|PMID:25110875|PMID:25430799|PMID:25525159|PMID:25712765|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26248088|PMID:26300997|PMID:26437257|PMID:26467025|PMID:27435373|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28492532|PMID:28643016|PMID:29212164|PMID:29237405|PMID:29887214|PMID:30256826|PMID:30504929|PMID:30521064|PMID:31942411|PMID:32761968|PMID:36988593|PMID:8571956|PMID:9536098 620937 Mlh1 mutL homolog 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733729 D RGD:2293518|PMID:15296997 20080602 RGD 620937 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer ISO RGD:733729 D RGD:126848792|PMID:21093954 20210430 RGD DNA:SNP:promoter:-93A>G (rs1800734) (human) 620937 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer ISO RGD:733729 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25420488|PMID:26845104|PMID:28492532|PMID:30702970 620937 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer no_association ISO RGD:733729 D RGD:126848792|PMID:21093954 20210430 RGD DNA:SNP: :9452A>T (rs1540354) (human) 620937 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer susceptibility ISO RGD:733729 D RGD:126848798|PMID:25252909 20210503 RGD DNA:SNP: :rs1800734 (human) 620937 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 620937 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 620937 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 620937 Mlh1 mutL homolog 1 gene DOID:1612 breast cancer ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:9506527|PMID:9718327 620937 Mlh1 mutL homolog 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 620937 Mlh1 mutL homolog 1 gene DOID:1791 peritoneal carcinoma ISO RGD:733729 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Primary peritoneal carcinoma PMID:25741868 620937 Mlh1 mutL homolog 1 gene DOID:219 colon cancer ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:08808596|PMID:11112663|PMID:11151427|PMID:11601928|PMID:12547705|PMID:14514376|PMID:14635101|PMID:15571801|PMID:15713769|PMID:15849733|PMID:15996210|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:17453009|PMID:17576681|PMID:18415027|PMID:18561205|PMID:18625694|PMID:18931482|PMID:19669161|PMID:19731080|PMID:20223024|PMID:21387278|PMID:21598002|PMID:21642682|PMID:23702729|PMID:24278394|PMID:24362816|PMID:24456667|PMID:25741868|PMID:26248088|PMID:26300997|PMID:26467025|PMID:26681312|PMID:28445943|PMID:28449805|PMID:28492532|PMID:29506128|PMID:33693762|PMID:8808596|PMID:9311737|PMID:9536098 620937 Mlh1 mutL homolog 1 gene DOID:219 colon cancer disease_progression ISO RGD:733729 D RGD:126790577|PMID:28411881 20210427 RGD 620937 Mlh1 mutL homolog 1 gene DOID:2394 ovarian cancer ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:33471991|PMID:34172528 620937 Mlh1 mutL homolog 1 gene DOID:2871 endometrial carcinoma ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10323887|PMID:10480359|PMID:10732761|PMID:11112663|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11948175|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:12919140|PMID:14871975|PMID:15133479|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16830052|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:18373977|PMID:18383312|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18772310|PMID:19224586|PMID:19267393|PMID:19690142|PMID:19698169|PMID:19863800|PMID:20020535|PMID:20215533|PMID:20233461|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21311894|PMID:21598002|PMID:21681552|PMID:22322191|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22886683|PMID:22949387|PMID:23329266|PMID:23403630|PMID:23695190|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24333619|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25117503|PMID:25430799|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26248088|PMID:26300997|PMID:26332594|PMID:26437257|PMID:26467025|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:27153395|PMID:27435373|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28643016|PMID:28874130|PMID:29212164|PMID:29237405|PMID:29752822|PMID:29887214|PMID:30256826|PMID:30521064|PMID:31054147|PMID:31159747|PMID:31350202|PMID:31491536|PMID:31784484|PMID:31948886|PMID:32295079|PMID:32849802|PMID:33471991|PMID:34039291|PMID:34408140|PMID:34680242|PMID:36988593|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8797773|PMID:8872463|PMID:9322509|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9806477|PMID:9833759 620937 Mlh1 mutL homolog 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:126848783|PMID:23787767 20210430 RGD mRNA:decreased expression:larynx 620937 Mlh1 mutL homolog 1 gene DOID:3070 high grade glioma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:25741868|PMID:28492532 620937 Mlh1 mutL homolog 1 gene DOID:3459 breast carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15713769|PMID:16083711|PMID:17510385|PMID:20020535|PMID:20533529|PMID:21120944|PMID:21404117|PMID:23403630|PMID:24362816|PMID:25741868|PMID:28492532|PMID:28643016 620937 Mlh1 mutL homolog 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733729 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 620937 Mlh1 mutL homolog 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:126790574|PMID:21674174 20210427 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14756672|PMID:20020535|PMID:21064154|PMID:22102614|PMID:25701956 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9482749|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36054288|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781 620937 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:3905 lung carcinoma IDA D RGD:10045659|PMID:21530494 20150615 RGD 620937 Mlh1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733729 D RGD:126848780|PMID:32211850 20210430 RGD 620937 Mlh1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733729 D RGD:126848801|PMID:18370958 20210503 RGD 620937 Mlh1 mutL homolog 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:27993330|PMID:28492532 620937 Mlh1 mutL homolog 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733729 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 620937 Mlh1 mutL homolog 1 gene DOID:4450 renal cell carcinoma ISO RGD:733729 D RGD:2293509|PMID:16426918 20080602 RGD protein:decreased expression:kidney 620937 Mlh1 mutL homolog 1 gene DOID:4606 bile duct cancer ISO RGD:733729 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 620937 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 620937 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:32832836|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 620937 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 620937 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30623411|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 620937 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527 620937 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:630 genetic disease ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620937 Mlh1 mutL homolog 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733729 D RGD:126848799|PMID:23810210 20210503 RGD 620937 Mlh1 mutL homolog 1 gene DOID:8029 sporadic breast cancer ISO RGD:733729 D RGD:2293522|PMID:12173039 20080603 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast 620937 Mlh1 mutL homolog 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733729 D RGD:2293515|PMID:15807307 20080602 RGD protein:increased expression:uterine cervix 620937 Mlh1 mutL homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:733729 D RGD:2293510|PMID:16309235 20080602 RGD DNA, protein:hypermethylation, decreased expression:testis 620937 Mlh1 mutL homolog 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 620937 Mlh1 mutL homolog 1 gene DOID:9001030 Multiple Primary Neoplasms ISO RGD:733729 D RGD:1625108|PMID:8829664 20070521 RGD 620937 Mlh1 mutL homolog 1 gene DOID:9001642 Intestinal Polyps ISO RGD:733729 D RGD:126790576|PMID:25561800 20210427 RGD DNA:SNP:p.V384D (human) 620937 Mlh1 mutL homolog 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 620937 Mlh1 mutL homolog 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19032668 620937 Mlh1 mutL homolog 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 620937 Mlh1 mutL homolog 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms | ClinVar Annotator: match by term: Colonic neoplasm PMID:11524701|PMID:11781295|PMID:12658575|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15955785|PMID:16395668|PMID:17054581|PMID:20937110|PMID:24710284|PMID:25741868|PMID:26467025|PMID:26666765|PMID:26895986|PMID:28492532|PMID:28874130|PMID:32658311|PMID:8797773 620937 Mlh1 mutL homolog 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733729 D RGD:2293515|PMID:15807307 20080602 RGD protein:decreased expression:uterine cervix 620937 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:7240710 20201202 OMIM 620937 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 PMID:10422993|PMID:10713887|PMID:10874307|PMID:11208710|PMID:11343035|PMID:11585727|PMID:11920650|PMID:12658575|PMID:14635101|PMID:15173238|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15996210|PMID:16769400|PMID:17312306|PMID:17889038|PMID:18561205|PMID:18726168|PMID:19116412|PMID:19690142|PMID:19731080|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20924129|PMID:21056691|PMID:21247423|PMID:21636617|PMID:21681552|PMID:21868491|PMID:22776989|PMID:23047549|PMID:24033266|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24456667|PMID:25525159|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:27064304|PMID:27498913|PMID:27601186|PMID:27606285|PMID:27978560|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:30077346|PMID:30262796|PMID:30322717|PMID:30521064|PMID:30982232|PMID:31118792|PMID:31248605|PMID:31391288|PMID:32040686|PMID:32635641|PMID:35223509|PMID:8872463|PMID:9377556|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:733729 D RGD:2293517|PMID:15338238 20080602 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell 620937 Mlh1 mutL homolog 1 gene DOID:9005804 Vulvar Neoplasms ISO RGD:733729 D RGD:2293514|PMID:15870899 20080602 RGD protein:increased expression:vulva 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10734316|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14985405|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28640387|PMID:28687356|PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:35263119|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997 620937 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 620937 Mlh1 mutL homolog 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733729 D RGD:4143515|PMID:19078924 20100929 RGD 620937 Mlh1 mutL homolog 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11948175|PMID:15475387|PMID:16736289|PMID:17135187|PMID:17210669|PMID:17510385|PMID:21404117|PMID:22843852|PMID:23741719|PMID:25741868|PMID:26467025|PMID:26552419|PMID:28492532|PMID:28514183|PMID:28767289|PMID:30504929|PMID:31332305|PMID:33471991|PMID:9311737 620937 Mlh1 mutL homolog 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733729 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497967|PMID:18718023|PMID:18949393 620937 Mlh1 mutL homolog 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733729 D RGD:2306714|PMID:11900875 20090504 RGD 620937 Mlh1 mutL homolog 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 620937 Mlh1 mutL homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10627141|PMID:11555625|PMID:15300854|PMID:17510385|PMID:17576681|PMID:21404117|PMID:21520333|PMID:23741719|PMID:25741868|PMID:27064304|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28514183|PMID:29922827|PMID:31697235|PMID:9536098 620937 Mlh1 mutL homolog 1 gene DOID:9256 colorectal cancer ISO RGD:733729 D RGD:1625107|PMID:10598809 20070521 RGD 620937 Mlh1 mutL homolog 1 gene DOID:9256 colorectal cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:11726306|PMID:12919137|PMID:15849733|PMID:17895478|PMID:18931482|PMID:20587412|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279|PMID:29684080|PMID:31843900 620938 Tnmd tenomodulin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731806 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620938 Tnmd tenomodulin gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 620938 Tnmd tenomodulin gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 620938 Tnmd tenomodulin gene DOID:12849 autistic disorder ISO RGD:731806 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620938 Tnmd tenomodulin gene DOID:630 genetic disease ISO RGD:731806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620939 Timeless timeless circadian regulator gene DOID:630 genetic disease ISO RGD:731567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620939 Timeless timeless circadian regulator gene DOID:9004338 Advanced Sleep Phase Syndrome 4, Familial ISO RGD:731567 D RGD:7240710 20220831 OMIM 620940 Mllt3 MLLT3, super elongation complex subunit gene DOID:630 genetic disease ISO RGD:737507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620940 Mllt3 MLLT3, super elongation complex subunit gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:9686143|PMID:23077601 20150203 RGD associated with Diabetes Mellitus, Experimental 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:403 mouth disease ISO RGD:734413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:630 genetic disease ISO RGD:734413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620942 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9870 galactosemia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 620943 Crym crystallin, mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:7240710 20170308 OMIM 620943 Crym crystallin, mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 40 PMID:12471561|PMID:24033266|PMID:25741868|PMID:28492532 620943 Crym crystallin, mu gene DOID:6000 congestive heart failure ISO RGD:734218 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 620943 Crym crystallin, mu gene DOID:630 genetic disease ISO RGD:734218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620943 Crym crystallin, mu gene DOID:9008681 Deafness ISO RGD:734218 D RGD:734836|PMID:12471561 19990101 RGD DNA:missense mutation:cds:p.K314T (human) 620943 Crym crystallin, mu gene DOID:936 brain disease ISO RGD:734218 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:24033266|PMID:25741868|PMID:28492532 620944 Casp7 caspase 7 gene DOID:0060186 chemical colitis treatment ISO RGD:1553182 D RGD:13782278|PMID:28740344 20180831 RGD 620944 Casp7 caspase 7 gene DOID:1002 endometritis treatment IEP D RGD:13782281|PMID:26920733 20180831 RGD 620944 Casp7 caspase 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1553182 D RGD:8548491|PMID:23470535 20140306 RGD 620944 Casp7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:11344490|PMID:26621834 20180827 RGD DNA:SNPs, haplotype 620944 Casp7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:13782269|PMID:12633148 20180830 RGD 620944 Casp7 caspase 7 gene DOID:11446 sciatic neuropathy IEP D RGD:13782273|PMID:29659443 20180831 RGD mRNA:increased expression:dorsal root ganglion 620944 Casp7 caspase 7 gene DOID:12306 vitiligo ISO RGD:1298347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 620944 Casp7 caspase 7 gene DOID:1612 breast cancer disease_progression ISO RGD:1298347 D RGD:13209143|PMID:23979166 20170830 RGD 620944 Casp7 caspase 7 gene DOID:219 colon cancer disease_progression ISO RGD:1298347 D RGD:13209143|PMID:23979166 20170830 RGD 620944 Casp7 caspase 7 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13782285|PMID:25872160 20180831 RGD 620944 Casp7 caspase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1298347 D RGD:13434908|PMID:20661084 20171004 RGD DNA:SNP: :rs2227310 (human) 620944 Casp7 caspase 7 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782341|PMID:29781318 20180905 RGD 620944 Casp7 caspase 7 gene DOID:630 genetic disease ISO RGD:1298347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620944 Casp7 caspase 7 gene DOID:7148 rheumatoid arthritis ISO RGD:1298347 D RGD:5684540|PMID:18785314 20111221 RGD 620944 Casp7 caspase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1298347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620944 Casp7 caspase 7 gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:5684535|PMID:20702827 20111221 RGD 620944 Casp7 caspase 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1298347 D RGD:5684537|PMID:17646170 20111221 RGD 620944 Casp7 caspase 7 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13782304|PMID:28456626 20180904 RGD associated with type 2 diabetes mellitus 620944 Casp7 caspase 7 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:13782275|PMID:29621761 20180831 RGD 620944 Casp7 caspase 7 gene DOID:9005172 Lung Neoplasms disease_progression ISO RGD:1298347 D RGD:13209143|PMID:23979166 20170830 RGD 620944 Casp7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10053670|PMID:23404339 20150717 RGD 620944 Casp7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:13782283|PMID:26699876 20180831 RGD 620944 Casp7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1298347 D RGD:13209143|PMID:23979166 20170830 RGD 620944 Casp7 caspase 7 gene DOID:9005930 Endotoxemia ISO RGD:1553182 D RGD:5684539|PMID:19168786 20111221 RGD 620944 Casp7 caspase 7 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:5684536|PMID:17596683 20111221 RGD 620944 Casp7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1298347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 620944 Casp7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782276|PMID:29538428 20180831 RGD 620944 Casp7 caspase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1298347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 620944 Casp7 caspase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1298347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 620944 Casp7 caspase 7 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10053698|PMID:23032698 20150720 RGD 620944 Casp7 caspase 7 gene DOID:9408 acute myocardial infarction treatment IEP D RGD:13782284|PMID:26550220 20180831 RGD 620945 Casp8 caspase 8 gene DOID:0060071 pre-malignant neoplasm treatment IDA D RGD:13792594|PMID:29588340 20180914 RGD associated with gastric adenocarcinoma 620945 Casp8 caspase 8 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620945 Casp8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:7240710 20180328 OMIM 620945 Casp8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:15601643|PMID:15998955|PMID:16199547|PMID:17293864|PMID:17576681|PMID:19380800|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25640679|PMID:25741868|PMID:25814141|PMID:26193622|PMID:26556299|PMID:28492532|PMID:29729943|PMID:30267714|PMID:30326257|PMID:32135276|PMID:34362880|PMID:9536098 620945 Casp8 caspase 8 gene DOID:104 bacterial infectious disease ISO RGD:730847 D RGD:2311430|PMID:16443785 20090715 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 620945 Casp8 caspase 8 gene DOID:10652 Alzheimer's disease ISO RGD:730846 D RGD:13782268|PMID:16772874 20180830 RGD 620945 Casp8 caspase 8 gene DOID:10652 Alzheimer's disease ISO RGD:730846 D RGD:13782269|PMID:12633148 20180830 RGD 620945 Casp8 caspase 8 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782291|PMID:29642617 20180904 RGD 620945 Casp8 caspase 8 gene DOID:10763 hypertension IEP D RGD:13782308|PMID:27929425 20180904 RGD 620945 Casp8 caspase 8 gene DOID:10952 nephritis treatment IEP D RGD:13782307|PMID:28039298 20180904 RGD 620945 Casp8 caspase 8 gene DOID:11166 papillomavirus infectious disease ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 620945 Casp8 caspase 8 gene DOID:114 heart disease IEP D RGD:13782301|PMID:28825094 20180904 RGD associated with Multiple Trauma 620945 Casp8 caspase 8 gene DOID:11446 sciatic neuropathy IEP D RGD:13782273|PMID:29659443 20180831 RGD mRNA:increased expression:dorsal root ganglion 620945 Casp8 caspase 8 gene DOID:11650 bronchopulmonary dysplasia IEP D RGD:11537057|PMID:26431790 20180906 RGD 620945 Casp8 caspase 8 gene DOID:12858 Huntington's disease ISO RGD:730846 D RGD:734695|PMID:10197541 20170919 RGD protein:altered localization:cerebellum: 620945 Casp8 caspase 8 gene DOID:12930 dilated cardiomyopathy IEP D RGD:13782348|PMID:26004897 20180906 RGD 620945 Casp8 caspase 8 gene DOID:1324 lung cancer ISO RGD:730846 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against PMID:17450141|PMID:18305469 620945 Casp8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:7240710 20180711 OMIM 620945 Casp8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against PMID:15601643|PMID:15998955|PMID:17293864|PMID:24033266|PMID:28492532 620945 Casp8 caspase 8 gene DOID:1793 pancreatic cancer ISO RGD:730846 D RGD:2317230|PMID:19843670 20100322 RGD DNA:SNP: :rs1045485 (human) 620945 Casp8 caspase 8 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730846 D RGD:2315744|PMID:18483392 20100322 RGD DNA:deletion, insertion:promoter (human) 620945 Casp8 caspase 8 gene DOID:1824 status epilepticus IEP D RGD:2311439|PMID:15036620 20090715 RGD protein:increased activity:hippocampus 620945 Casp8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18571097 620945 Casp8 caspase 8 gene DOID:1909 melanoma ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18563783|PMID:21983787 620945 Casp8 caspase 8 gene DOID:224 transient cerebral ischemia IEP D RGD:4142863|PMID:18096138 20220527 RGD protein:increased expression:cerebral cortex: 620945 Casp8 caspase 8 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13782286|PMID:30148677 20180831 RGD 620945 Casp8 caspase 8 gene DOID:2773 contact dermatitis ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 620945 Casp8 caspase 8 gene DOID:299 adenocarcinoma ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 620945 Casp8 caspase 8 gene DOID:3042 allergic contact dermatitis ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 620945 Casp8 caspase 8 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13782303|PMID:28496315 20180904 RGD 620945 Casp8 caspase 8 gene DOID:3310 atopic dermatitis ISS RGD:730847 D RGD:13592920 20180518 MouseDO OMIM:603165 620945 Casp8 caspase 8 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:730846 D RGD:153300949|PMID:31885720 20220808 RGD mRNA,protein:decreased expression:esophagus squamous epithelium (human) 620945 Casp8 caspase 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 620945 Casp8 caspase 8 gene DOID:417 autoimmune disease ISO RGD:730846 D RGD:2311245|PMID:17880769 20090715 RGD associated with Diabetes Mellitus, Insulin-Dependent 620945 Casp8 caspase 8 gene DOID:4195 hyperglycemia ISO RGD:730847 D RGD:2311428|PMID:19194987 20090715 RGD 620945 Casp8 caspase 8 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730846 D RGD:126925218|PMID:21472143 20210517 RGD DNA:SNP:5'utr: (rs1035142) (human) 620945 Casp8 caspase 8 gene DOID:5082 liver cirrhosis ISO RGD:730847 D RGD:13782297|PMID:29105510 20180904 RGD associated with cholestasis 620945 Casp8 caspase 8 gene DOID:5327 retinal detachment treatment IEP D RGD:13782302|PMID:28633009 20180904 RGD 620945 Casp8 caspase 8 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730846 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 620945 Casp8 caspase 8 gene DOID:557 kidney disease IEP D RGD:13782293|PMID:29257007 20180904 RGD 620945 Casp8 caspase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:730846 D RGD:734696|PMID:12353035 19990101 RGD 620945 Casp8 caspase 8 gene DOID:630 genetic disease ISO RGD:730846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620945 Casp8 caspase 8 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:730846 D RGD:11554173 20180403 CTD CTD Direct Evidence: marker/mechanism 620945 Casp8 caspase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:730846 D RGD:7240710 20130221 OMIM 620945 Casp8 caspase 8 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730846 D RGD:14695027|PMID:28643196 20190703 RGD associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human) 620945 Casp8 caspase 8 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:13782296|PMID:29133031 20180904 RGD 620945 Casp8 caspase 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:730846 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 620945 Casp8 caspase 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17450141|PMID:21472143 620945 Casp8 caspase 8 gene DOID:9000197 Edema ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 620945 Casp8 caspase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 620945 Casp8 caspase 8 gene DOID:9000469 Viral Myocarditis ISO RGD:730847 D RGD:13702877|PMID:21055654 20180720 RGD 620945 Casp8 caspase 8 gene DOID:9000855 Experimental Radiation Injuries treatment IEP D RGD:13782350|PMID:24939579 20180906 RGD 620945 Casp8 caspase 8 gene DOID:9000998 Brain Injuries IEP D RGD:1624191|PMID:15590916 20100312 RGD protein:altered localization 620945 Casp8 caspase 8 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:13782298|PMID:29061477 20180904 RGD associated with Brain Injuries, Traumatic 620945 Casp8 caspase 8 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730846 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 620945 Casp8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:8661760|PMID:23423194 20160707 RGD 620945 Casp8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730847 D RGD:14695087|PMID:15300206 20190703 RGD 620945 Casp8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13782304|PMID:28456626 20180904 RGD associated with type 2 diabetes mellitus 620945 Casp8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13792586|PMID:29606028 20180914 RGD associated with Diabetes Mellitus, Experimental 620945 Casp8 caspase 8 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:730847 D RGD:13702874|PMID:23833961 20180720 RGD 620945 Casp8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 620945 Casp8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage treatment IEP D RGD:13782306|PMID:28096675 20180904 RGD 620945 Casp8 caspase 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2311436|PMID:18521931 20090715 RGD protein:increased activity, increased expression:spinal cord 620945 Casp8 caspase 8 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 620945 Casp8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13782359|PMID:23046993 20180906 RGD 620945 Casp8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:13782292|PMID:29635023 20180904 RGD 620945 Casp8 caspase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 620945 Casp8 caspase 8 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:13782275|PMID:29621761 20180831 RGD 620945 Casp8 caspase 8 gene DOID:9004354 Alcohol-Related Disorders treatment IEP D RGD:13782287|PMID:30118883 20180831 RGD 620945 Casp8 caspase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730846 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620945 Casp8 caspase 8 gene DOID:9004464 Skin Neoplasms ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 620945 Casp8 caspase 8 gene DOID:9004484 Sepsis IEP D RGD:2311435|PMID:18570579 20090715 RGD 620945 Casp8 caspase 8 gene DOID:9004484 Sepsis treatment IEP D RGD:13782295|PMID:29180187 20180904 RGD 620945 Casp8 caspase 8 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730847 D RGD:14695025|PMID:12810955 20190703 RGD 620945 Casp8 caspase 8 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:13782288|PMID:29755641 20180831 RGD 620945 Casp8 caspase 8 gene DOID:9005020 Brain Contusion treatment IEP D RGD:13782305|PMID:28140659 20180904 RGD 620945 Casp8 caspase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 620945 Casp8 caspase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:730846 D RGD:7240710 20130221 OMIM 620945 Casp8 caspase 8 gene DOID:9005233 Experimental Mammary Neoplasms severity IEP D RGD:10053708|PMID:20732338 20150720 RGD 620945 Casp8 caspase 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:730846 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 620945 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311319|PMID:15976052 20090707 RGD protein:increased activity, increased expression:pituitary gland, prolactin secreting cell 620945 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311427|PMID:19540304 20090715 RGD protein:increased expression, increased activity:pituitary gland 620945 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730847 D RGD:2311429|PMID:17563067 20090715 RGD 620945 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:13782300|PMID:28843149 20180904 RGD 620945 Casp8 caspase 8 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:13782299|PMID:28992627 20180904 RGD 620945 Casp8 caspase 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:10053709|PMID:25447754 20160707 RGD 620945 Casp8 caspase 8 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 620945 Casp8 caspase 8 gene DOID:9007692 Insulin Resistance IEP D RGD:13782289|PMID:29748970 20180831 RGD 620945 Casp8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13782263|PMID:11934844 20180830 RGD protein:increased activity:cardiomyocyte 620945 Casp8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 620945 Casp8 caspase 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 620945 Casp8 caspase 8 gene DOID:9008939 Breast Neoplasms ISO RGD:730846 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:15601643|PMID:17293864|PMID:17450141|PMID:29915430 620945 Casp8 caspase 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 620945 Casp8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730846 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 620945 Casp8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730847 D RGD:2311429|PMID:17563067 20090715 RGD 620945 Casp8 caspase 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730847 D RGD:2311431|PMID:12753807 20090715 RGD 620945 Casp8 caspase 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730846 D RGD:11554173 20200326 CTD CTD Direct Evidence: therapeutic PMID:22010212 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:13938 amenorrhea ISO RGD:1350408 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:3068 glioblastoma ISO RGD:1350408 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25875864 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:630 genetic disease ISO RGD:1350408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350408 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23727861 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:7240710 20220504 OMIM 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin PMID:25741868|PMID:31645653|PMID:34515416 620946 Zbtb7a zinc finger and BTB domain containing 7a gene DOID:9119 acute myeloid leukemia ISO RGD:1350408 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0050562 West syndrome treatment IMP D RGD:9588540|PMID:24321005 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:7240710 20130221 OMIM 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:10407778|PMID:15642443|PMID:16199547|PMID:17576681|PMID:20052547|PMID:25640679|PMID:25738457|PMID:25741868|PMID:26467025|PMID:27596361|PMID:27903293|PMID:28411234|PMID:28492532|PMID:30617166|PMID:31133775|PMID:6148708|PMID:9536098 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:732065 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0080855 Parkinsonism treatment IEP D RGD:9588554|PMID:22634324 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 620948 Abat 4-aminobutyrate aminotransferase gene DOID:10652 Alzheimer's disease ISO RGD:732065 D RGD:10046060|PMID:1627256 20150706 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:10763 hypertension IDA D RGD:1598531|PMID:1570022 20061202 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy IDA D RGD:10047056|PMID:2753001 20150707 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy IDA D RGD:10047087|PMID:21935729 20150708 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy treatment IMP D RGD:9588535|PMID:20109543 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:12849 autistic disorder ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 620948 Abat 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease ISO RGD:732065 D RGD:10046047|PMID:6237280 20150710 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease treatment IMP D RGD:10047058|PMID:152600 20150707 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:1596 depressive disorder IMP D RGD:9588556|PMID:21914462 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:1824 status epilepticus IDA D RGD:1598522|PMID:9344635 20061202 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 620948 Abat 4-aminobutyrate aminotransferase gene DOID:2548 reflex epilepsy IDA D RGD:1598520|PMID:9706369 20061202 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:326 ischemia IDA D RGD:1598516|PMID:10375453 20061202 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:5679 retinal disease ISO RGD:1332048 D RGD:9588533|PMID:18412635 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:5812 MHC class II deficiency ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 620948 Abat 4-aminobutyrate aminotransferase gene DOID:630 genetic disease ISO RGD:732065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 620948 Abat 4-aminobutyrate aminotransferase gene DOID:8534 gastroesophageal reflux disease ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9001109 Anorexia IMP D RGD:10047083|PMID:6534893 20150708 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9001733 Tinnitus treatment IMP D RGD:9588534|PMID:17221143 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9002211 Hyperalgesia treatment IMP D RGD:9588557|PMID:24890317 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9005219 Abnormal Reflexes ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9005603 Muscle Hypotonia ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9005632 Cocaine-Related Disorders treatment IMP D RGD:9588542|PMID:22128851 20141030 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1598518|PMID:9846053 20061202 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9008394 Drug-Induced Dyskinesia IMP D RGD:10047091|PMID:6445277 20150708 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9008394 Drug-Induced Dyskinesia IMP D RGD:1598524|PMID:7740056 20061202 RGD 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9008514 Psychomotor Disorders ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9008617 Lethargy ISO RGD:732065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 620948 Abat 4-aminobutyrate aminotransferase gene DOID:9976 heroin dependence IMP D RGD:10046064|PMID:10900239 20150706 RGD 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:0060041 autism spectrum disorder ISO RGD:1349499 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:0060476 Perlman syndrome ISO RGD:1349499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1349499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:2043 hepatitis B susceptibility ISO RGD:1349499 D RGD:14401574|PMID:29239247 20190513 RGD DNA:SNP: : rs2070959(human) 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:2739 Gilbert syndrome ISO RGD:1349499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1349499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:2773 contact dermatitis ISO RGD:1349499 D RGD:11554173 20220419 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1349499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:630 genetic disease ISO RGD:1349499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1349499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1349499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 620949 Ugt1a6 UDP glucuronosyltransferase family 1 member A6 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10769362|PMID:23545594 20160211 RGD mRNA,protein:increased expression,increased activity:intestine, colon: 620950 Ugt1a7c UDP glucuronosyltransferase 1 family, polypeptide A7C gene DOID:1793 pancreatic cancer ISO RGD:1351935 D RGD:2317503|PMID:12806614 20100407 RGD DNA:polymorphisms: :p.N129K, p.R131K, p.W208R (human) 620950 Ugt1a7c UDP glucuronosyltransferase 1 family, polypeptide A7C gene DOID:1793 pancreatic cancer no_association ISO RGD:1351935 D RGD:2317157|PMID:17072959 20100407 RGD DNA:polymorphisms: :multiple (human) 620950 Ugt1a7c UDP glucuronosyltransferase 1 family, polypeptide A7C gene DOID:4988 alcoholic pancreatitis ISO RGD:1351935 D RGD:2317503|PMID:12806614 20100407 RGD DNA:polymorphisms: :p.N129K, p.R131K, p.W208R (human) 620950 Ugt1a7c UDP glucuronosyltransferase 1 family, polypeptide A7C gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10769362|PMID:23545594 20160211 RGD mRNA,protein:increased expression,increased activity:intestine, colon: 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:7240710 20200624 OMIM 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 62 PMID:25741868|PMID:28492532|PMID:30521495 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:2340 craniosynostosis ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:5419 schizophrenia ISO RGD:30307884 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:30307884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 620951 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:9269 maple syrup urine disease ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 620952 Pdzk1ip1 PDZK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:737282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620952 Pdzk1ip1 PDZK1 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737282 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 620953 Ebf1 EBF transcription factor 1 gene DOID:0050873 follicular lymphoma ISO RGD:1349579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 620953 Ebf1 EBF transcription factor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 620953 Ebf1 EBF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620953 Ebf1 EBF transcription factor 1 gene DOID:811 lipodystrophy ISS RGD:732633 D RGD:13592920 20180518 MouseDO OMIM:608709 620953 Ebf1 EBF transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 620954 Ipmk inositol polyphosphate multikinase gene DOID:630 genetic disease ISO RGD:737355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620955 Lss lanosterol synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 620955 Lss lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:7240710 20190315 OMIM 620955 Lss lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis 14 PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697 620955 Lss lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:7240710 20200429 OMIM 620955 Lss lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697|PMID:9536098 620955 Lss lanosterol synthase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736635 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 620955 Lss lanosterol synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 620955 Lss lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:7240710 20170301 OMIM 620955 Lss lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract 44 PMID:25741868|PMID:28492532 620955 Lss lanosterol synthase gene DOID:11100 Q fever ISO RGD:736635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 620955 Lss lanosterol synthase gene DOID:12849 autistic disorder ISO RGD:736635 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620955 Lss lanosterol synthase gene DOID:630 genetic disease ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620955 Lss lanosterol synthase gene DOID:83 cataract ISO RGD:736635 D RGD:126925964|PMID:26200341 20210521 RGD DNA:missense mutations:cds:p.W581R, p.G588S (human) 620955 Lss lanosterol synthase gene DOID:83 cataract ISO RGD:736635 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 620955 Lss lanosterol synthase gene DOID:83 cataract ISS RGD:733768 D RGD:13592920 20220120 MouseDO OMIM:601371 620955 Lss lanosterol synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:736635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 620955 Lss lanosterol synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733768 D RGD:13782271|PMID:25168180 20180831 RGD mRNA:increased expression:liver 620955 Lss lanosterol synthase gene DOID:9263 homocystinuria ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 620955 Lss lanosterol synthase gene DOID:9455 lipid storage disease ISO RGD:736635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 620955 Lss lanosterol synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733077 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:25741868 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:0080600 COVID-19 ISO RGD:733077 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:4621 holoprosencephaly ISO RGD:733077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:630 genetic disease ISO RGD:733077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:7240710 20141015 OMIM 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 5-Oxoprolinase deficiency PMID:16199547|PMID:17576681|PMID:21651516|PMID:23430506|PMID:25741868|PMID:27477828|PMID:28492532|PMID:9536098 620956 Oplah 5-oxoprolinase (ATP-hydrolysing) gene DOID:9006253 Ketosis ISO RGD:733077 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Ketosis PMID:25741868 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISS RGD:733162 D RGD:13592920 20180518 MouseDO OMIM:302950 | OMIM:302960 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1345811 D RGD:2316868|PMID:12668600 20100302 RGD 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345811 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345811 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:7240710 20130221 OMIM 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical PMID:10391218|PMID:10391219|PMID:10710233|PMID:10942423|PMID:11038443|PMID:11493318|PMID:11982764|PMID:12483303|PMID:12503102|PMID:12509714|PMID:1355069|PMID:15368506|PMID:17625999|PMID:18414213|PMID:20949533|PMID:22121851|PMID:22229330|PMID:24726177|PMID:24915996|PMID:25741868|PMID:26075358|PMID:28492532|PMID:29851033|PMID:30098249|PMID:7677157 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345811 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:7240710 20170510 OMIM 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEND syndrome PMID:11038443|PMID:12503101|PMID:12966533|PMID:18414213|PMID:20949533|PMID:23307567|PMID:24459067|PMID:24700572|PMID:25741868|PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345811 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:12849 autistic disorder ISO RGD:1345811 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:18176751 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:734908|PMID:10391218 20070402 RGD CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:630 genetic disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12509714|PMID:25741868|PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:65 connective tissue disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:10391219|PMID:11038443|PMID:12503102|PMID:12509714|PMID:18414213|PMID:25741868|PMID:28492532 620957 Ebp EBP, cholestenol delta-isomerase gene DOID:9008582 Developmental Disease ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 620958 Ntm neurotrimin gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603310 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 620958 Ntm neurotrimin gene DOID:5419 schizophrenia ISO RGD:1603310 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 620958 Ntm neurotrimin gene DOID:630 genetic disease ISO RGD:1603310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620958 Ntm neurotrimin gene DOID:65 connective tissue disease ISO RGD:1603310 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 620958 Ntm neurotrimin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603310 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 620959 Tdg thymine-DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346610 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 620959 Tdg thymine-DNA glycosylase gene DOID:630 genetic disease ISO RGD:1346610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620959 Tdg thymine-DNA glycosylase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1617602 D RGD:2317355|PMID:9794235 20100330 RGD mRNA:increased expression:mammary gland tumor (mouse) 620961 Prkci protein kinase C, iota gene DOID:0060611 abdominal obesity-metabolic syndrome ISS RGD:1331958 D RGD:13592920 20180518 MouseDO 620961 Prkci protein kinase C, iota gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:732937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 620961 Prkci protein kinase C, iota gene DOID:1062 Fanconi syndrome ISO RGD:732937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 620961 Prkci protein kinase C, iota gene DOID:12849 autistic disorder ISO RGD:732937 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 620961 Prkci protein kinase C, iota gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732937 D RGD:2314932|PMID:18538170 20091209 RGD protein:increased expression, altered localization:breast, cytoplasm 620961 Prkci protein kinase C, iota gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732937 D RGD:2292460|PMID:12888898 20080418 RGD 620961 Prkci protein kinase C, iota gene DOID:630 genetic disease ISO RGD:732937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620961 Prkci protein kinase C, iota gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314944|PMID:14691046 20091209 RGD protein:increased expression:ventricle myocardium, membrane fraction 620961 Prkci protein kinase C, iota gene DOID:9352 type 2 diabetes mellitus ISS RGD:1331958 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 620961 Prkci protein kinase C, iota gene DOID:9970 obesity ISS RGD:1331958 D RGD:13592920 20180518 MouseDO OMIM:601665 620962 Hdlbp high density lipoprotein binding protein gene DOID:0080600 COVID-19 ISO RGD:732166 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 620962 Hdlbp high density lipoprotein binding protein gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 620962 Hdlbp high density lipoprotein binding protein gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 620962 Hdlbp high density lipoprotein binding protein gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 620962 Hdlbp high density lipoprotein binding protein gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 620962 Hdlbp high density lipoprotein binding protein gene DOID:1059 intellectual disability ISO RGD:732166 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620962 Hdlbp high density lipoprotein binding protein gene DOID:12849 autistic disorder ISO RGD:732166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 620962 Hdlbp high density lipoprotein binding protein gene DOID:630 genetic disease ISO RGD:732166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620962 Hdlbp high density lipoprotein binding protein gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 620962 Hdlbp high density lipoprotein binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732166 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 620962 Hdlbp high density lipoprotein binding protein gene DOID:9008192 Neoplastic Processes ISO RGD:732166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25129143 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:735608 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:731513 D RGD:10395344|PMID:24315369 20150902 RGD protein:increased phosphorylation:hippocampus 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:10395316|PMID:16691116 20150901 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease severity ISO RGD:735608 D RGD:10395343|PMID:16954686 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:735608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1824 status epilepticus ISO RGD:735608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15003282 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia IEP D RGD:11041881|PMID:10541873 20160331 RGD associated with Heart Arrest 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:731513 D RGD:10395353|PMID:11520898 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3347 osteosarcoma ISO RGD:735608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10395346|PMID:23669639 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:10755569|PMID:19763736 20160202 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:630 genetic disease ISO RGD:735608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9000998 Brain Injuries IDA D RGD:10395358|PMID:11526986 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases IDA D RGD:10395351|PMID:21059295 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:10395352|PMID:8092984 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004009 Reperfusion Injury IDA D RGD:1581062|PMID:15936177 20150902 RGD protein:increased phosphorylation:kidney 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004484 Sepsis IEP D RGD:10395355|PMID:8141277 20150902 RGD 620963 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9008824 Sarcopenia IEP D RGD:10395315|PMID:15187001 20150901 RGD 620964 Prkd1 protein kinase D1 gene DOID:0080820 occupational asthma ISO RGD:1351212 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 620964 Prkd1 protein kinase D1 gene DOID:10283 prostate cancer ISO RGD:1351212 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620964 Prkd1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:11560583|PMID:27479907 20230424 RGD DNA:missense mutations:CDS:p.L299W, p.G592R (human) 620964 Prkd1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:329322879|PMID:33919081 20230424 RGD DNA:SNP:intron:c.265-1G>T (human) 620964 Prkd1 protein kinase D1 gene DOID:299 adenocarcinoma ISO RGD:1351212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 620964 Prkd1 protein kinase D1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1351212 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 620964 Prkd1 protein kinase D1 gene DOID:5844 myocardial infarction treatment IEP D RGD:289474908|PMID:26064267 20230419 RGD 620964 Prkd1 protein kinase D1 gene DOID:630 genetic disease ISO RGD:1351212 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620964 Prkd1 protein kinase D1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1551913 D RGD:290382408|PMID:25889640 20230419 RGD associated with Cardiomegaly 620964 Prkd1 protein kinase D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 620964 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly IEP D RGD:243065275|PMID:16648482 20230418 RGD protein:increased phosphorylation:heart left ventricle (rat) 620964 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1351212 D RGD:243065275|PMID:16648482 20230418 RGD human gene in a mouse model 620964 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1551913 D RGD:243048462|PMID:24161911 20230403 RGD protein:increased activity:heart (mouse) 620964 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1551913 D RGD:307436945|PMID:18287012 20230420 RGD 620964 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1551913 D RGD:329322877|PMID:36172952 20230424 RGD 620964 Prkd1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:7240710 20190315 OMIM 620964 Prkd1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia PMID:25741868|PMID:27479907|PMID:28492532|PMID:32817298 620964 Prkd1 protein kinase D1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351212 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 620964 Prkd1 protein kinase D1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1351212 D RGD:307436943|PMID:25173922 20230420 RGD human gene in a mouse model 620964 Prkd1 protein kinase D1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1551913 D RGD:307727199|PMID:24345679 20230420 RGD 620964 Prkd1 protein kinase D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 620965 Pde2a phosphodiesterase 2A gene DOID:0050700 cardiomyopathy IEP D RGD:10449440|PMID:19003918 20160104 RGD associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: 620965 Pde2a phosphodiesterase 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 620965 Pde2a phosphodiesterase 2A gene DOID:1059 intellectual disability ISO RGD:730957 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32467598 620965 Pde2a phosphodiesterase 2A gene DOID:10652 Alzheimer's disease treatment ISO RGD:737365 D RGD:10449025|PMID:22771768 20151214 RGD 620965 Pde2a phosphodiesterase 2A gene DOID:12859 choreatic disease ISO RGD:730957 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:32467598 620965 Pde2a phosphodiesterase 2A gene DOID:543 dystonia ISO RGD:730957 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:32467598 620965 Pde2a phosphodiesterase 2A gene DOID:630 genetic disease ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 620965 Pde2a phosphodiesterase 2A gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2312523|PMID:12834273 20180517 RGD 620965 Pde2a phosphodiesterase 2A gene DOID:9005603 Muscle Hypotonia ISO RGD:730957 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:32467598 620965 Pde2a phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:7240710 20210217 OMIM 620965 Pde2a phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with paroxysmal dyskinesia or seizures PMID:25741868|PMID:28492532|PMID:29392776|PMID:32196122|PMID:32467598 620965 Pde2a phosphodiesterase 2A gene DOID:9008939 Breast Neoplasms ISO RGD:730957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0080763 diffuse gastric cancer severity ISO RGD:733801 D RGD:150573718|PMID:24759887 20220111 RGD DNA:SNP:enhancer: (rs889312) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:7240710 20140903 OMIM 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 6 PMID:11242112|PMID:12476449|PMID:20301714|PMID:21129722|PMID:24135036|PMID:24497709|PMID:25326637|PMID:25383892|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28504475|PMID:30608580|PMID:30872814|PMID:32985417|PMID:5419329 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733801 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:733801 D RGD:150573716|PMID:31686841 20220111 RGD DNA:SNP:enhancer: (rs889312) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:733801 D RGD:150573715|PMID:23042672 20220111 RGD DNA:SNP:intron:g.56206570C>G (rs16886448) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:2289657|PMID:17529967 20080529 RGD 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:2293356|PMID:18036273 20080529 RGD 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733801 D RGD:2293357|PMID:17997823 20080529 RGD 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1923 disorder of sexual development ISO RGD:733801 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:733801 D RGD:150573807|PMID:23859041 20220112 RGD DNA:SNP:intron: (rs43184) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer treatment ISO RGD:733801 D RGD:13217411|PMID:23027623 20220112 RGD DNA:SNP:intron: (rs2548663) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3748 esophagus squamous cell carcinoma sexual_dimorphism ISO RGD:733801 D RGD:150573717|PMID:32753933 20220111 RGD DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733801 D RGD:150573805|PMID:21636554 20220112 RGD DNA:SNPs:5'-UTR, intron 1: (rs17661089, rs16886403, rs726501) (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28504475 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733801 D RGD:150573714|PMID:31310010 20220111 RGD mRNA:decreased expression:liver (human) 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733801 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733801 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733801 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004538 Hearing Loss ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30872814 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 620966 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9009121 lung metastasis ameliorates ISO RGD:733802 D RGD:150573808|PMID:16568086 20220112 RGD associated with breast carcinoma 620967 Map3k2 mitogen activated protein kinase kinase kinase 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 620967 Map3k2 mitogen activated protein kinase kinase kinase 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 620967 Map3k2 mitogen activated protein kinase kinase kinase 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1354206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 620967 Map3k2 mitogen activated protein kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1354206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620968 Prkcq protein kinase C, theta gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1350580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 620968 Prkcq protein kinase C, theta gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350580 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 620968 Prkcq protein kinase C, theta gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1350580 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 620968 Prkcq protein kinase C, theta gene DOID:2018 hyperinsulinism IEP D RGD:1625605|PMID:8826977 20070615 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus 620968 Prkcq protein kinase C, theta gene DOID:2526 prostate adenocarcinoma IEP D RGD:1625625|PMID:8180127 20070615 RGD mRNA:increased expression:prostate 620968 Prkcq protein kinase C, theta gene DOID:5327 retinal detachment ISO RGD:1350580 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26978024 620968 Prkcq protein kinase C, theta gene DOID:630 genetic disease ISO RGD:1350580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620968 Prkcq protein kinase C, theta gene DOID:7148 rheumatoid arthritis ISO RGD:1350580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 620968 Prkcq protein kinase C, theta gene DOID:8778 Crohn's disease ISO RGD:1350580 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 620968 Prkcq protein kinase C, theta gene DOID:9004484 Sepsis IEP D RGD:1625613|PMID:11735277 20070615 RGD protein:decreased expression:lymphocyte 620968 Prkcq protein kinase C, theta gene DOID:9007692 Insulin Resistance IEP D RGD:1625603|PMID:10923637 20070615 RGD associated with Obesity;protein:decreased expression:skeletal muscle 620968 Prkcq protein kinase C, theta gene DOID:9007692 Insulin Resistance IEP D RGD:1625604|PMID:9000691 20070615 RGD protein:altered localization:skeletal muscle 620968 Prkcq protein kinase C, theta gene DOID:9008972 Hyperammonemia IEP D RGD:1625610|PMID:15606904 20070615 RGD protein:altered localization:neuron 620968 Prkcq protein kinase C, theta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:0050868 hepatocellular adenoma ameliorates ISO RGD:731489 D RGD:11342977|PMID:26560698 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:10534 stomach cancer ameliorates ISO RGD:731488 D RGD:151356998|PMID:23828905 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731488 D RGD:151356966|PMID:28724746 20220221 RGD protein:increased activity:serum: 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13208 background diabetic retinopathy ISO RGD:731488 D RGD:151356966|PMID:28724746 20220221 RGD protein:increased activity:serum: 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1324 lung cancer exacerbates ISO RGD:731489 D RGD:11535492|PMID:26300007 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1612 breast cancer ISO RGD:731488 D RGD:151356925|PMID:10490831 20220216 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731488 D RGD:151356965|PMID:28393206 20220221 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731488 D RGD:151356978|PMID:23533274 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:731489 D RGD:151356978|PMID:23533274 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:731488 D RGD:151356974|PMID:23982215 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731488 D RGD:151356974|PMID:23982215 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:630 genetic disease ISO RGD:731488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:731489 D RGD:11342977|PMID:26560698 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9000371 influenza A exacerbates ISO RGD:731489 D RGD:11055126|PMID:26241898 20220221 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001642 Intestinal Polyps ISO RGD:731489 D RGD:151356977|PMID:22451924 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731489 D RGD:151356997|PMID:23064365 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002869 Schistosomiasis Mansoni exacerbates ISO RGD:731489 D RGD:151356963|PMID:27487182 20220221 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:731488 D RGD:7240710 20130221 OMIM 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:151356966|PMID:28724746 20220221 RGD protein:increased activity:serum: 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731488 D RGD:151356924|PMID:15287022 20220216 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731489 D RGD:151356978|PMID:23533274 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9009121 lung metastasis ameliorates ISO RGD:731488 D RGD:151356974|PMID:23982215 20220222 RGD associated with clear cell renal cell carcinoma 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731488 D RGD:151356994|PMID:23322277 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731488 D RGD:151356995|PMID:29763718 20220222 RGD 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731489 D RGD:151356966|PMID:28724746 20220221 RGD protein:increased activity:serum: 620969 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9452 fatty liver disease ameliorates ISO RGD:731489 D RGD:11342977|PMID:26560698 20220222 RGD 620970 Tmed10 transmembrane p24 trafficking protein 10 gene DOID:1059 intellectual disability ISO RGD:731656 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 620970 Tmed10 transmembrane p24 trafficking protein 10 gene DOID:10652 Alzheimer's disease ISO RGD:731656 D RGD:2317276|PMID:18652896 20100325 RGD protein:decreased expression:brain cortex (human) 620970 Tmed10 transmembrane p24 trafficking protein 10 gene DOID:630 genetic disease ISO RGD:731656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620971 Pros1 protein S gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1342781 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 620971 Pros1 protein S gene DOID:0060903 thrombosis ISO RGD:1342781 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:10706858|PMID:11132655 620971 Pros1 protein S gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1342781 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11127877|PMID:11858485|PMID:20880255|PMID:24014240|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532|PMID:31064749 620971 Pros1 protein S gene DOID:0111003 Joubert syndrome 8 ISO RGD:1342781 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 620971 Pros1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20170726 OMIM 620971 Pros1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant PMID:10447256|PMID:10456456|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11858485|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15978566|PMID:16100035|PMID:16461766|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22261441|PMID:22273984|PMID:22627591|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30669159|PMID:31064749|PMID:34355501|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:8113388|PMID:8298131|PMID:8765219|PMID:8781426|PMID:8943854|PMID:9241758|PMID:9536098|PMID:9651142|PMID:9657428 620971 Pros1 protein S gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1342781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 620971 Pros1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20141015 OMIM 620971 Pros1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:10063989|PMID:10456456|PMID:10613646|PMID:10613647|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11776305|PMID:11858485|PMID:12351389|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15712777|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16363235|PMID:16461766|PMID:16953283|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20181378|PMID:20421270|PMID:20484936|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:22273984|PMID:2231208|PMID:22627591|PMID:22627709|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2521801|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30543986|PMID:30669159|PMID:31064749|PMID:31422373|PMID:32964666|PMID:34355501|PMID:34533296|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:7974339|PMID:8298131|PMID:8616098|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8841302|PMID:8943854|PMID:9031442|PMID:9031443|PMID:9241758|PMID:9536098|PMID:9651142 620971 Pros1 protein S gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 620971 Pros1 protein S gene DOID:1247 blood coagulation disease ISO RGD:1550610 D RGD:11250417|PMID:19729839 20160615 RGD 620971 Pros1 protein S gene DOID:178 vascular disease ISO RGD:1550610 D RGD:11250417|PMID:19729839 20160615 RGD 620971 Pros1 protein S gene DOID:2213 hemorrhagic disease ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20880255|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8943854|PMID:9651142 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:11250415|PMID:7579448 20160615 RGD DNA:missense mutation:exon:p.S460P (human) 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:11250418|PMID:19466456 20160615 RGD DNA:deletions, duplication:exon, intron 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:11250419|PMID:22261441 20160615 RGD DNA:missense, nonsense, deletions: :multiple 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:11251677|PMID:16885060 20160616 RGD DNA:frameshift mutation:exon:c.1113T>G (human) 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:11251679|PMID:11776305 20160616 RGD DNA:missense mutations, deletion: :multiple 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:1578677|PMID:12907438 19990101 RGD 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:1599209|PMID:9657428 20070119 RGD 620971 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:10447256|PMID:10706858|PMID:10790208|PMID:11127877|PMID:11858485|PMID:12351389|PMID:17576681|PMID:18322254|PMID:20880255|PMID:22166512|PMID:22261441|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24055113|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26466767|PMID:27652279|PMID:28492532|PMID:29321366|PMID:29748776|PMID:30543986|PMID:30669159|PMID:31064749|PMID:32581362|PMID:32964666|PMID:34355501|PMID:7579449|PMID:7803790|PMID:8943854|PMID:9241758|PMID:9536098 620971 Pros1 protein S gene DOID:2451 protein S deficiency no_association ISO RGD:1342781 D RGD:11250419|PMID:22261441 20160615 RGD DNA:SNPs: : c.1016T>A, c.1138A>C (human) 620971 Pros1 protein S gene DOID:3526 cerebral infarction ISO RGD:1342781 D RGD:11250416|PMID:21172841 20160615 RGD DNA:missense mutation:exon:p.R355C (1063C>T) (human) 620971 Pros1 protein S gene DOID:3576 sagittal sinus thrombosis ISO RGD:1342781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 620971 Pros1 protein S gene DOID:3875 thrombophlebitis ISO RGD:1342781 D RGD:1578677|PMID:12907438 19990101 RGD 620971 Pros1 protein S gene DOID:630 genetic disease ISO RGD:1342781 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077735|PMID:20880255|PMID:25741868|PMID:28492532 620971 Pros1 protein S gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 620971 Pros1 protein S gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2300011|PMID:16995903 20080829 RGD mRNA, protein:decreased expression:liver, plasma 620971 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies IEP D RGD:13515131|PMID:29511111 20180409 RGD associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus 620971 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342781 D RGD:13515131|PMID:29511111 20180409 RGD protein:increased expression:kidney, glomerulus 620971 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1550610 D RGD:13515131|PMID:29511111 20180409 RGD associated with diabetes mellitus, experimental 620971 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342781 D RGD:13515131|PMID:29511111 20180409 RGD associated with diabetes mellitus, experimental 620971 Pros1 protein S gene DOID:9003121 Thromboembolism ISO RGD:1342781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8052960 620971 Pros1 protein S gene DOID:9003121 Thromboembolism ISO RGD:1342781 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 620971 Pros1 protein S gene DOID:9003505 Venous Thromboembolism ISO RGD:1342781 D RGD:11099984|PMID:11434940 20160610 RGD 620971 Pros1 protein S gene DOID:9003505 Venous Thromboembolism ISO RGD:1342781 D RGD:11251678|PMID:26466767 20160616 RGD 620971 Pros1 protein S gene DOID:9003871 Venous Thrombosis ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12351389|PMID:20880255|PMID:22261441|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32964666|PMID:7803790 620971 Pros1 protein S gene DOID:9003871 Venous Thrombosis ISO RGD:1342781 D RGD:9743896|PMID:9424998 19990101 RGD DNA:missense mutation:cds:p.G295V (human) 620971 Pros1 protein S gene DOID:9477 pulmonary embolism ISO RGD:1342781 D RGD:1578677|PMID:12907438 19990101 RGD 620972 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0050589 inflammatory bowel disease ISS RGD:732632 D RGD:13592920 20180518 MouseDO 620972 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1345604 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 620972 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1345604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 620972 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345604 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 620972 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:630 genetic disease ISO RGD:1345604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620973 Tec tec protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:732236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620974 Usf1 upstream transcription factor 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 620974 Usf1 upstream transcription factor 1 gene DOID:1287 cardiovascular system disease ISO RGD:733910 D RGD:1580805|PMID:16699592 19990101 RGD 620974 Usf1 upstream transcription factor 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733910 D RGD:11554173 20180306 CTD CTD Direct Evidence: marker/mechanism 620974 Usf1 upstream transcription factor 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733910 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to PMID:14991056|PMID:16076849 620974 Usf1 upstream transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733910 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620974 Usf1 upstream transcription factor 1 gene DOID:630 genetic disease ISO RGD:733910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620974 Usf1 upstream transcription factor 1 gene DOID:9005097 Hyperlipidemia, Combined, 1 susceptibility ISO RGD:733910 D RGD:7240710 20190502 OMIM 620974 Usf1 upstream transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733910 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620974 Usf1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733910 D RGD:2313793|PMID:18445538 20091015 RGD DNA:SNP: :rs2073658 (human) 620974 Usf1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733910 D RGD:2313794|PMID:16186412 20091015 RGD DNA:SNPs:intron, 3' utr:multiple (human) 620974 Usf1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733910 D RGD:2313792|PMID:18593823 20091015 RGD DNA:SNP: :rs3737787 (human) 620975 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:0110222 Brugada syndrome 5 ISO RGD:734370 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 620975 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 620975 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:10283 prostate cancer ISO RGD:734370 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620975 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:543 dystonia ISO RGD:734370 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 620975 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:630 genetic disease ISO RGD:734370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620977 Stx12 syntaxin 12 gene DOID:630 genetic disease ISO RGD:737034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0050476 Barth syndrome ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0050679 blue cone monochromacy ISO RGD:1347075 D RGD:7240710 20170524 OMIM 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0050679 blue cone monochromacy ISO RGD:1347075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked PMID:11772996|PMID:1302020|PMID:15094734|PMID:19421413|PMID:20579627|PMID:2788922|PMID:8666378 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0050800 creatine transporter deficiency ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:0112003 immunodeficiency 33 ISO RGD:1347075 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:10588 adrenoleukodystrophy ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:12849 autistic disorder ISO RGD:1347075 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:13628 favism ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:13909 red-green color blindness ISO RGD:1347075 D RGD:7240710 20170524 OMIM 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:13909 red-green color blindness ISO RGD:1347075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deutan defect | ClinVar Annotator: match by term: Deuteranopia PMID:11772996|PMID:12051694|PMID:12626747|PMID:1302020|PMID:15094734|PMID:19421413|PMID:2788922|PMID:8666378 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:13911 achromatopsia ISO RGD:1347075 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:25741868 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:2729 dyskeratosis congenita ISO RGD:1347075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:607 paraplegia ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:630 genetic disease ISO RGD:1347075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:9002720 Splenomegaly ISO RGD:1347075 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 620978 Opn1mw opsin 1, medium wave sensitive gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1347075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9588627|PMID:21532572 20141103 RGD DNA:missensemutations:cds: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1552151 D RGD:126925233|PMID:32051532 20210518 RGD protein:increased expression:heart (mouse) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1354178 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19155313 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1354178 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050952 spastic ataxia ISO RGD:1354178 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:7240710 20141015 OMIM 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy PMID:10210919|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:30165906|PMID:31984424|PMID:7898717|PMID:8747854|PMID:9536098 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354178 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:7240710 20141015 OMIM 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:23365052|PMID:23521649|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30165906|PMID:7898717|PMID:9536098 620979 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:26467025|PMID:27884168|PMID:28334952|PMID:28492532|PMID:30165906|PMID:30342480|PMID:31049076|PMID:31984424|PMID:7898717|PMID:9536098 620979 Dnmt1 DNA methyltransferase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1354178 D RGD:9588628|PMID:24038143 20141103 RGD protein:increased expression:nucleus: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10210919|PMID:21532572|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:7898717 620979 Dnmt1 DNA methyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354178 D RGD:2301220|PMID:14634451 20081001 RGD protein:increased expression (in humans) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354178 D RGD:126925233|PMID:32051532 20210518 RGD protein:increased expression:cardiac muscle tissue of interventricular septum (human) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:12361 Graves' disease treatment ISO RGD:1354178 D RGD:9588624|PMID:23039890 20141103 RGD DNA:polymorphism: :32204 G>A(human) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1354178 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia PMID:27884168|PMID:28492532 620979 Dnmt1 DNA methyltransferase 1 gene DOID:1307 dementia ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 620979 Dnmt1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:150530293|PMID:21496867 20211207 RGD protein:increased expression:lung (human) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9588658|PMID:24548441 20141104 RGD protein:increased expression:lung: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:1682 congenital heart disease IEP D RGD:9588314|PMID:23333085 20141028 RGD associated with Vitamin A Deficiency; mRNA:increased expression:heart: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:2030 anxiety disorder ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23791455 620979 Dnmt1 DNA methyltransferase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:1552151 D RGD:2289681|PMID:17178860 20141107 RGD mRNA,protein:increased expression:prostate gland: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23423710 620979 Dnmt1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1552151 D RGD:9588646|PMID:23196709 20141104 RGD DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:288 endometriosis of uterus ISO RGD:1354178 D RGD:9588664|PMID:22572543 20141104 RGD protein:increased expression:ectopic endometrium: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:289 endometriosis ISO RGD:1354178 D RGD:9588653|PMID:21316665 20141104 RGD mRNA,protein:decreased expression:endometrium: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:299 adenocarcinoma ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17571247 620979 Dnmt1 DNA methyltransferase 1 gene DOID:305 carcinoma ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1552151 D RGD:9588643|PMID:11726790 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3565 meningioma ISO RGD:1354178 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Meningioma 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354178 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354178 D RGD:9588974|PMID:19424621 20141105 RGD protein:increased expression:pancreas 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3905 lung carcinoma disease_progression IDA D RGD:9588222|PMID:21163286 20141022 RGD protein:increased expression:nucleus: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1354178 D RGD:126848780|PMID:32211850 20210430 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354178 D RGD:126848780|PMID:32211850 20210430 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:417 autoimmune disease ISO RGD:1552151 D RGD:9588650|PMID:23444399 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1354178 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 620979 Dnmt1 DNA methyltransferase 1 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:1354178 D RGD:9588574|PMID:15999364 20141031 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma disease_progression ISO RGD:1354178 D RGD:4140940|PMID:19484794 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:5082 liver cirrhosis IEP D RGD:9588224|PMID:24211420 20141022 RGD mRNA,protein:increased expression:liver: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:535 sleep disorder ISO RGD:1354178 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 620979 Dnmt1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1354178 D RGD:9588642|PMID:17264840 20141104 RGD mRNA:increased expression:GABAergic interneuron 620979 Dnmt1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1552151 D RGD:9588973|PMID:22564440 20141105 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:25741868|PMID:28492532|PMID:30165906 620979 Dnmt1 DNA methyltransferase 1 gene DOID:6000 congestive heart failure IEP D RGD:9588286|PMID:23573917 20141024 RGD protein:increased expression:atrium: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21532572|PMID:24727570|PMID:25678562|PMID:25741868|PMID:28492532|PMID:30165906|PMID:31049076|PMID:36394275|PMID:9536098 620979 Dnmt1 DNA methyltransferase 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:2289670|PMID:11844796 20170113 RGD mRNA, protein:increased expression:liver 620979 Dnmt1 DNA methyltransferase 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1354178 D RGD:9588623|PMID:20937307 20141103 RGD mRNA:increased expression:mononuclear cell 620979 Dnmt1 DNA methyltransferase 1 gene DOID:8456 choline deficiency disease IDA D RGD:9588267|PMID:17724018 20141023 RGD DNA:hypermethylation:liver: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:8456 choline deficiency disease IEP D RGD:9588267|PMID:17724018 20141023 RGD mRNA:increased expression:liver: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1354178 D RGD:9588667|PMID:11222358 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17571247|PMID:21458988 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9000998 Brain Injuries IEP D RGD:9588608|PMID:19429151 20141031 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9588242|PMID:16380407 20141023 RGD mRNA,protein:decreased expression:hippocampus: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9588619|PMID:12869365 20141103 RGD mRNA:decreased expression:kidney: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9590296|PMID:24717552 20141124 RGD mRNA:increased expression:adrenal gland: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552151 D RGD:9588671|PMID:20584988 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1552151 D RGD:9588628|PMID:24038143 20141103 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002488 Peritoneal Fibrosis IEP D RGD:9588609|PMID:25256793 20141031 RGD protein:increased expression:peritoneum: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002598 Spastic Paraparesis ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1354178 D RGD:9588645|PMID:23666104 20141104 RGD DNA:SNPs: :rs2228611,rs759920 (human) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19723570 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms treatment IDA D RGD:9588972|PMID:19723570 20141105 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9003036 Oral Lichen Planus ISO RGD:1354178 D RGD:9589075|PMID:22236544 20141106 RGD protein:increased expression:mouth mucosa: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354178 D RGD:2301221|PMID:17196739 20081001 RGD protein:increased expression (in humans) 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354178 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1354178 D RGD:9588974|PMID:19424621 20141105 RGD protein:increased expression:pancreas 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1354178 D RGD:9588596|PMID:15721400 20141031 RGD mRNA,protein:increased expression:uterus: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1354178 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354178 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9004866 Ataxia ISO RGD:1354178 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:28492532 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9006302 Binge Drinking ISO RGD:1552151 D RGD:9588287|PMID:23423140 20141024 RGD protein:increased expression:nucleus accumbens: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1552151 D RGD:9588654|PMID:22905112 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9007702 Carcinogenesis disease_progression IDA D RGD:9588222|PMID:21163286 20141022 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1354178 D RGD:9588596|PMID:15721400 20141031 RGD mRNA,protein:decreased expression:uterus: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9008443 Colorectal Neoplasms treatment IEP D RGD:9588299|PMID:23717604 20141024 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1354178 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:22520950|PMID:28544374 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354178 D RGD:9588656|PMID:21595664 20141104 RGD mRNA:decreased expression:T cell: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1354178 D RGD:9588670|PMID:18194272 20141104 RGD 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1354178 D RGD:9588667|PMID:11222358 20141104 RGD mRNA:increased expression:CD34+ bone marrow cells 620979 Dnmt1 DNA methyltransferase 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7207079|PMID:21818837 20141031 RGD mRNA:increased expression:liver: 620979 Dnmt1 DNA methyltransferase 1 gene DOID:986 alopecia areata ISO RGD:1354178 D RGD:9587460|PMID:21936853 20141112 RGD mRNA:increased expression:mononuclear cell: 620980 Tek TEK receptor tyrosine kinase gene DOID:0001816 angiosarcoma ISO RGD:1342531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 620980 Tek TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19079259 620980 Tek TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:7240710 20130221 OMIM 620980 Tek TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component PMID:10369874|PMID:19888299|PMID:20301733|PMID:25326635|PMID:25741868|PMID:26319232|PMID:27270174|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 620980 Tek TEK receptor tyrosine kinase gene DOID:10808 gastric ulcer IEP D RGD:1601496|PMID:12768384 20070423 RGD protein:increased expression:stomach 620980 Tek TEK receptor tyrosine kinase gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1342531 D RGD:1578533|PMID:8980225 20070423 RGD DNA:missense mutation: :p.R849W 620980 Tek TEK receptor tyrosine kinase gene DOID:12176 goiter IEP D RGD:1601510|PMID:11397875 20070424 RGD mRNA:increased expression:thyroid 620980 Tek TEK receptor tyrosine kinase gene DOID:12556 acute kidney tubular necrosis IEP D RGD:1601494|PMID:16284088 20070423 RGD associated with Kidney Reperfusion Injury 620980 Tek TEK receptor tyrosine kinase gene DOID:2316 brain ischemia IEP D RGD:634324|PMID:11919509 20070424 RGD 620980 Tek TEK receptor tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:1342531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 620980 Tek TEK receptor tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1342531 D RGD:1601489|PMID:12814387 20070423 RGD protein:increased expression:plasma 620980 Tek TEK receptor tyrosine kinase gene DOID:5176 renal Wilms' tumor ISO RGD:1342531 D RGD:155631277|PMID:18467665 20221031 RGD human tumor in mouse model 620980 Tek TEK receptor tyrosine kinase gene DOID:5844 myocardial infarction IEP D RGD:1601493|PMID:16714360 20070423 RGD protein:increased expression:ventricle myocardium 620980 Tek TEK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 620980 Tek TEK receptor tyrosine kinase gene DOID:6432 pulmonary hypertension ISO RGD:1342531 D RGD:1601487|PMID:16917117 20070423 RGD mRNA, protein:increased expression:lung 620980 Tek TEK receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma IEP D RGD:1601490|PMID:16951510 20070423 RGD protein:increased expression 620980 Tek TEK receptor tyrosine kinase gene DOID:9000388 BOCKENHEIMER SYNDROME ISO RGD:1342531 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bockenheimer syndrome PMID:25741868 620980 Tek TEK receptor tyrosine kinase gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1342531 D RGD:155646133|PMID:23870033 20221108 RGD mRNA:decreased expression:liver 620980 Tek TEK receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1342531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 620980 Tek TEK receptor tyrosine kinase gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Blue rubber bleb nevus PMID:10369874|PMID:20301733|PMID:25741868 620980 Tek TEK receptor tyrosine kinase gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10369874|PMID:19888299|PMID:20301733|PMID:25741868|PMID:26319232|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 620980 Tek TEK receptor tyrosine kinase gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1342531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 620980 Tek TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:7240710 20190315 OMIM 620980 Tek TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E PMID:25741868|PMID:27270174|PMID:28492532 620980 Tek TEK receptor tyrosine kinase gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:1342531 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 620980 Tek TEK receptor tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1601505|PMID:12737621 20070424 RGD mRNA, protein:increased expression:ventricle myocardium 620980 Tek TEK receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342531 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:19340004|PMID:28492532 620981 Calb2 calbindin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 620981 Calb2 calbindin 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:731363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 620981 Calb2 calbindin 2 gene DOID:13141 uveitis ISO RGD:731363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578012 620981 Calb2 calbindin 2 gene DOID:1790 malignant mesothelioma ISO RGD:731363 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 620981 Calb2 calbindin 2 gene DOID:630 genetic disease ISO RGD:731363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620981 Calb2 calbindin 2 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:731363 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 620981 Calb2 calbindin 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731363 D RGD:2315881|PMID:18604736 20100114 RGD protein:decreased expression:endometrium 620982 Tspan2 tetraspanin 2 gene DOID:0080690 RASopathy ISO RGD:1344307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 620982 Tspan2 tetraspanin 2 gene DOID:630 genetic disease ISO RGD:1344307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620982 Tspan2 tetraspanin 2 gene DOID:9007096 Stroke ISO RGD:1344307 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 620983 Oprpn opiorphin prepropeptide gene DOID:630 genetic disease ISO RGD:1351065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620983 Oprpn opiorphin prepropeptide gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1351065 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 620984 Lum lumican gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1344357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 620984 Lum lumican gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISS RGD:734193 D RGD:13592920 20180518 MouseDO OMIM:130000 620984 Lum lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:2317230|PMID:19843670 20100416 RGD DNA:SNP: :rs2268578 (human) 620984 Lum lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:2317682|PMID:17671699 20100416 RGD 620984 Lum lumican gene DOID:3393 coronary artery disease ISO RGD:1344357 D RGD:1582121|PMID:11890723 20061101 RGD 620984 Lum lumican gene DOID:3407 carotid artery disease ISO RGD:1344357 D RGD:1582117|PMID:15970583 20061101 RGD 620984 Lum lumican gene DOID:5082 liver cirrhosis ISO RGD:1344357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 620984 Lum lumican gene DOID:5199 ureteral obstruction IEP D RGD:2317694|PMID:12787392 20100416 RGD mRNA:increased expression:kidney 620984 Lum lumican gene DOID:630 genetic disease ISO RGD:1344357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620984 Lum lumican gene DOID:799 varicose veins ISO RGD:1344357 D RGD:1582120|PMID:15871312 20061101 RGD 620984 Lum lumican gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2317692|PMID:18482974 20100416 RGD protein:increased expression:spinal cord 620984 Lum lumican gene DOID:9000784 Fibrosis IEP D RGD:2317695|PMID:1385211 20100416 RGD mRNA:increased expression:liver 620984 Lum lumican gene DOID:9000784 Fibrosis IEP D RGD:724427|PMID:12645630 20100416 RGD associated with Pancreatitis;mRNA, protein:increased expression, altered localization:pancreas 620984 Lum lumican gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344357 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620984 Lum lumican gene DOID:9001600 Wounds and Injuries ISO RGD:1344357 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24367547 620984 Lum lumican gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1582122|PMID:11348051 20061101 RGD 620985 Ust5r integral membrane transport protein UST5r gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606386 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620985 Ust5r integral membrane transport protein UST5r gene DOID:1059 intellectual disability ISO RGD:1606386 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability 620985 Ust5r integral membrane transport protein UST5r gene DOID:5082 liver cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620985 Ust5r integral membrane transport protein UST5r gene DOID:630 genetic disease ISO RGD:1606386 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620985 Ust5r integral membrane transport protein UST5r gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620985 Ust5r integral membrane transport protein UST5r gene DOID:9007383 Chemical and Drug Induced Liver Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 620986 Rtn1 reticulon 1 gene DOID:630 genetic disease ISO RGD:732399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620986 Rtn1 reticulon 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732399 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 620987 Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620987 Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 gene DOID:1059 intellectual disability ISO RGD:732561 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620987 Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620987 Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 gene DOID:2746 glycogen storage disease V ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 620987 Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 gene DOID:3070 high grade glioma ISO RGD:732561 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 620987 Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 gene DOID:630 genetic disease ISO RGD:732561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620988 Rtn3 reticulon 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 620988 Rtn3 reticulon 3 gene DOID:1059 intellectual disability ISO RGD:1349287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620988 Rtn3 reticulon 3 gene DOID:630 genetic disease ISO RGD:1349287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620989 Rtn4 reticulon 4 gene DOID:11832 visual epilepsy IEP D RGD:2314957|PMID:17439704 20091210 RGD 620989 Rtn4 reticulon 4 gene DOID:5419 schizophrenia ISO RGD:730919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20071518 620989 Rtn4 reticulon 4 gene DOID:630 genetic disease ISO RGD:730919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620989 Rtn4 reticulon 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 620990 Nap1l3 nucleosome assembly protein 1-like 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343656 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620990 Nap1l3 nucleosome assembly protein 1-like 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1343656 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 620990 Nap1l3 nucleosome assembly protein 1-like 3 gene DOID:12849 autistic disorder ISO RGD:1343656 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620990 Nap1l3 nucleosome assembly protein 1-like 3 gene DOID:630 genetic disease ISO RGD:1343656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620991 Secisbp2 SECIS binding protein 2 gene DOID:630 genetic disease ISO RGD:1343356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620991 Secisbp2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19602558 620991 Secisbp2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:7240710 20130221 OMIM 620991 Secisbp2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1 PMID:16228000|PMID:24033266|PMID:25741868|PMID:29882503 620991 Secisbp2 SECIS binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1343356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19602558 620991 Secisbp2 SECIS binding protein 2 gene DOID:9252 amino acid metabolic disorder ISO RGD:1343356 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16228000 620992 Mtdh metadherin gene DOID:630 genetic disease ISO RGD:735692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620992 Mtdh metadherin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735692 D RGD:9068941 20210528 RGD human cells in a mouse model PMID:26351209|REF_RGD_ID:11096879 620992 Mtdh metadherin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735692 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19111877 620992 Mtdh metadherin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735692 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 620992 Mtdh metadherin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735692 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 620992 Mtdh metadherin gene DOID:9008939 Breast Neoplasms ISO RGD:735692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19111877 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:0060224 atrial fibrillation ISO RGD:736162 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:12849 autistic disorder ISO RGD:736162 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:630 genetic disease ISO RGD:736162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 620993 Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736162 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 620994 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0050437 Danon disease ISO RGD:736275 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 620994 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736275 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 620994 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 620994 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 620994 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:12849 autistic disorder ISO RGD:736275 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 620994 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:630 genetic disease ISO RGD:736275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620995 Pde5a phosphodiesterase 5A gene DOID:10591 pre-eclampsia IMP D RGD:2314465|PMID:18538317 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:12236 primary biliary cholangitis IMP D RGD:2314466|PMID:17610866 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:1875 impotence IMP D RGD:2314519|PMID:15920460 20091118 RGD associated with Hypercholesterolemia 620995 Pde5a phosphodiesterase 5A gene DOID:1875 impotence IMP D RGD:2314520|PMID:15667904 20091118 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:1875 impotence IMP D RGD:2314521|PMID:15578039 20091118 RGD associated with Diabetes Mellitus, Experimental 620995 Pde5a phosphodiesterase 5A gene DOID:2986 IgA glomerulonephritis ISO RGD:732674 D RGD:7248685|PMID:20563733 20130815 RGD DNA:SNP: :rs13124532(human) 620995 Pde5a phosphodiesterase 5A gene DOID:4762 vasculogenic impotence IMP D RGD:2314469|PMID:17287493 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:5844 myocardial infarction IMP D RGD:2314468|PMID:17339532 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:630 genetic disease ISO RGD:732674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620995 Pde5a phosphodiesterase 5A gene DOID:6432 pulmonary hypertension IMP D RGD:2314460|PMID:19881228 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9000965 Neoplasm Metastasis ISO RGD:732674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 620995 Pde5a phosphodiesterase 5A gene DOID:9003936 Cardiomegaly treatment ISO RGD:737352 D RGD:1581008|PMID:15665834 19990101 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9004009 Reperfusion Injury IMP D RGD:2314462|PMID:19474186 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732674 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 620995 Pde5a phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment IMP D RGD:7775056|PMID:22270721 20131231 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9005372 Inflammation IMP D RGD:2314463|PMID:19129291 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2314461|PMID:19542492 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy IMP D RGD:2314467|PMID:17606845 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732674 D RGD:2314467|PMID:17606845 20091116 RGD mRNA, protein:increased expression:myocardium 620995 Pde5a phosphodiesterase 5A gene DOID:9006599 Hypertriglyceridemia IMP D RGD:2314464|PMID:18787522 20091116 RGD 620995 Pde5a phosphodiesterase 5A gene DOID:9007096 Stroke IMP D RGD:2314459|PMID:19729580 20091116 RGD 620996 Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:732681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620997 Calcb calcitonin-related polypeptide, beta gene DOID:1059 intellectual disability ISO RGD:1350431 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620997 Calcb calcitonin-related polypeptide, beta gene DOID:630 genetic disease ISO RGD:1350431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620997 Calcb calcitonin-related polypeptide, beta gene DOID:6364 migraine ISO RGD:1350431 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 620998 Nell1 neural EGFL like 1 gene DOID:10283 prostate cancer ISO RGD:733264 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 620998 Nell1 neural EGFL like 1 gene DOID:1059 intellectual disability ISO RGD:733264 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 620998 Nell1 neural EGFL like 1 gene DOID:2340 craniosynostosis IMP D RGD:633405|PMID:12235118 19990101 RGD 620998 Nell1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:733264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14672347 620998 Nell1 neural EGFL like 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17452981 620998 Nell1 neural EGFL like 1 gene DOID:630 genetic disease ISO RGD:733264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 620999 Nell2 neural EGFL like 2 gene DOID:630 genetic disease ISO RGD:732316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621000 P4ha1 prolyl 4-hydroxylase subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621001 Calcr calcitonin receptor gene DOID:11476 osteoporosis ISO RGD:731272 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621001 Calcr calcitonin receptor gene DOID:11476 osteoporosis ISO RGD:731272 D RGD:8554872 20181002 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 PMID:9003491|PMID:9571205|PMID:9817931 621001 Calcr calcitonin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:731272 D RGD:10045665|PMID:23137636 20150615 RGD DNA:SNP:cds:g.1340T>C (human) 621001 Calcr calcitonin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:731272 D RGD:7240710 20230505 OMIM 621001 Calcr calcitonin receptor gene DOID:12678 hypercalcemia ISO RGD:731272 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18627265 621001 Calcr calcitonin receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731272 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621001 Calcr calcitonin receptor gene DOID:630 genetic disease ISO RGD:731272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621001 Calcr calcitonin receptor gene DOID:9003870 Herpes Simplex Encephalitis treatment IDA D RGD:7240516|PMID:22761571 20191030 RGD 621002 Rabac1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 621002 Rabac1 Rab acceptor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 621002 Rabac1 Rab acceptor 1 gene DOID:2340 craniosynostosis ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 621002 Rabac1 Rab acceptor 1 gene DOID:5419 schizophrenia ISO RGD:736141 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621002 Rabac1 Rab acceptor 1 gene DOID:630 genetic disease ISO RGD:736141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621002 Rabac1 Rab acceptor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 621002 Rabac1 Rab acceptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 621003 Nacc1 nucleus accumbens associated 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 621003 Nacc1 nucleus accumbens associated 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:732621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 621003 Nacc1 nucleus accumbens associated 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 621003 Nacc1 nucleus accumbens associated 1 gene DOID:0111254 glutaric acidemia I ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 621003 Nacc1 nucleus accumbens associated 1 gene DOID:1059 intellectual disability ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 621003 Nacc1 nucleus accumbens associated 1 gene DOID:10907 microcephaly ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 621003 Nacc1 nucleus accumbens associated 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732621 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31101655 621003 Nacc1 nucleus accumbens associated 1 gene DOID:3413 alpha-mannosidosis ISO RGD:732621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 621003 Nacc1 nucleus accumbens associated 1 gene DOID:630 genetic disease ISO RGD:732621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28132692|PMID:28492532|PMID:31618753 621003 Nacc1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:7240710 20190315 OMIM 621003 Nacc1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination PMID:25741868|PMID:28132692|PMID:28492532 621004 Plcb2 phospholipase C, beta 2 gene DOID:13501 Moebius syndrome ISO RGD:732409 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 621004 Plcb2 phospholipase C, beta 2 gene DOID:2717 Bloom syndrome ISO RGD:732409 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621004 Plcb2 phospholipase C, beta 2 gene DOID:630 genetic disease ISO RGD:732409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621004 Plcb2 phospholipase C, beta 2 gene DOID:9256 colorectal cancer ISO RGD:732409 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621005 Stx3 syntaxin 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732917 D RGD:11532386|PMID:26216965 20170511 RGD 621005 Stx3 syntaxin 3 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:732917 D RGD:11532386|PMID:26216965 20170511 RGD protein:increased expression:photoreceptor outer segment layer 621005 Stx3 syntaxin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621005 Stx3 syntaxin 3 gene DOID:1059 intellectual disability ISO RGD:735349 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621005 Stx3 syntaxin 3 gene DOID:630 genetic disease ISO RGD:735349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621005 Stx3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:7240710 20210728 OMIM 621005 Stx3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy PMID:24726755|PMID:28492532|PMID:29282386 621005 Stx3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:7240710 20210728 OMIM 621005 Stx3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0050777 Joubert syndrome ISO RGD:1320849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0050778 Meckel syndrome ISO RGD:1320849 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1320849 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 PMID:25741868|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:7240710 20130221 OMIM 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:15657616|PMID:18157129|PMID:20301755|PMID:22773132|PMID:24815019|PMID:25741868|PMID:26467025|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:16199547|PMID:17576681|PMID:18157129|PMID:19321599|PMID:23806237|PMID:23963297|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1320849 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:25741868|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18157129 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:7240710 20130221 OMIM 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Wrinkly skin syndrome PMID:18157129|PMID:20301755|PMID:25741868|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:3144 cutis laxa ISO RGD:1320849 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:18157129|PMID:19321599|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:630 genetic disease ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621006 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:26467025|PMID:28492532 621007 Dab2 DAB adaptor protein 2 gene DOID:0050758 metabolic acidosis IEP D RGD:7243154|PMID:22357915 20130509 RGD protein:decreased expression:brush border membrane 621007 Dab2 DAB adaptor protein 2 gene DOID:1324 lung cancer disease_progression ISO RGD:731451 D RGD:150530293|PMID:21496867 20211207 RGD protein:decreased expression:lung (human) 621007 Dab2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction IEP D RGD:7243156|PMID:21762377 20130509 RGD protein:increased expression:cardiomyocyte 621007 Dab2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction IMP D RGD:7243158|PMID:20666606 20130509 RGD 621007 Dab2 DAB adaptor protein 2 gene DOID:630 genetic disease ISO RGD:30302009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621007 Dab2 DAB adaptor protein 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:7243246|PMID:17317100 20130514 RGD protein:increased expression:spinal cord 621007 Dab2 DAB adaptor protein 2 gene DOID:9000998 Brain Injuries IEP D RGD:7243841|PMID:15774263 20130515 RGD 621007 Dab2 DAB adaptor protein 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression IEP D RGD:7243155|PMID:21890121 20130509 RGD 621007 Dab2 DAB adaptor protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30302009 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621008 Abi1 abl-interactor 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1604650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:25741868 621008 Abi1 abl-interactor 1 gene DOID:630 genetic disease ISO RGD:1604650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621008 Abi1 abl-interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604650 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621010 Spata7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:7240710 20130425 OMIM 621010 Spata7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset PMID:16199547|PMID:17576681|PMID:19268277|PMID:20104588|PMID:20301475|PMID:21310915|PMID:21602930|PMID:22136677|PMID:22334370|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26854980|PMID:27208204|PMID:28481129|PMID:28492532|PMID:28714225|PMID:29186038|PMID:29411205|PMID:30054919|PMID:31908400|PMID:32865313|PMID:9536098 621010 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19268277 621010 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:26355662|PMID:28481129|PMID:28492532|PMID:9536098 621010 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25741868|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400 621010 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400|PMID:9536098 621010 Spata7 spermatogenesis associated 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:1345087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19268277 621010 Spata7 spermatogenesis associated 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:1345087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:19268277|PMID:20104588|PMID:21310915|PMID:22334370|PMID:23847139|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26854980|PMID:28492532|PMID:31908400 621010 Spata7 spermatogenesis associated 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345087 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 621010 Spata7 spermatogenesis associated 7 gene DOID:630 genetic disease ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621010 Spata7 spermatogenesis associated 7 gene DOID:8501 fundus dystrophy ISO RGD:1345087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19268277|PMID:21310915|PMID:22136677|PMID:22334370|PMID:23847139|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:27208204|PMID:28492532|PMID:29411205 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:1059 intellectual disability ISO RGD:734100 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:12849 autistic disorder ISO RGD:734100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:2030 anxiety disorder ISO RGD:734100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:734100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:734100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621011 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9923 developmental coordination disorder ISO RGD:734100 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20868654 621012 Hdgfl1 HDGF like 1 gene DOID:630 genetic disease ISO RGD:1344578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621014 Tk1 thymidine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:736473 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621014 Tk1 thymidine kinase 1 gene DOID:1612 breast cancer ISO RGD:736473 D RGD:2317242|PMID:10883887 20100323 RGD protein:increased expression:serum (human) 621014 Tk1 thymidine kinase 1 gene DOID:2893 cervix carcinoma ISO RGD:736473 D RGD:2317243|PMID:11474248 20100323 RGD protein:increased expression:serum (human) 621014 Tk1 thymidine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736473 D RGD:2317237|PMID:15583816 20100322 RGD protein:increased expression:serum (human) 621014 Tk1 thymidine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736473 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621014 Tk1 thymidine kinase 1 gene DOID:630 genetic disease ISO RGD:736473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621014 Tk1 thymidine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736473 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621014 Tk1 thymidine kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 621014 Tk1 thymidine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:736473 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621014 Tk1 thymidine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 621015 Bcl2l10 Bcl2-like 10 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:1353095 D RGD:11058140|PMID:24047476 20190304 RGD DNA:SNP:cds:p.Leu21Arg rs2231292)(human) 621015 Bcl2l10 Bcl2-like 10 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1353095 D RGD:14392809|PMID:21760590 20190304 RGD 621015 Bcl2l10 Bcl2-like 10 gene DOID:2717 Bloom syndrome ISO RGD:1353095 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621015 Bcl2l10 Bcl2-like 10 gene DOID:3459 breast carcinoma treatment ISO RGD:1353095 D RGD:14392810|PMID:22207111 20190304 RGD 621015 Bcl2l10 Bcl2-like 10 gene DOID:5517 stomach carcinoma ISO RGD:1353095 D RGD:14392807|PMID:21171085 20190304 RGD protein:decreased expression:stomach: 621015 Bcl2l10 Bcl2-like 10 gene DOID:5517 stomach carcinoma ISO RGD:731990 D RGD:14392807|PMID:21171085 20190304 RGD 621015 Bcl2l10 Bcl2-like 10 gene DOID:607 paraplegia ISO RGD:1353095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 621015 Bcl2l10 Bcl2-like 10 gene DOID:630 genetic disease ISO RGD:1353095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621015 Bcl2l10 Bcl2-like 10 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia susceptibility ISO RGD:1353095 D RGD:11058140|PMID:24047476 20190304 RGD DNA:SNP:cds:p.Leu21Arg rs2231292)(human) 621015 Bcl2l10 Bcl2-like 10 gene DOID:9256 colorectal cancer ISO RGD:1353095 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621015 Bcl2l10 Bcl2-like 10 gene DOID:9538 multiple myeloma ISO RGD:1353095 D RGD:14392808|PMID:27455953 20190304 RGD protein:increased expression:bone marrow : 621016 Pde7b phosphodiesterase 7B gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:732248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 621016 Pde7b phosphodiesterase 7B gene DOID:0111955 immunodeficiency 27A ISO RGD:732248 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 621016 Pde7b phosphodiesterase 7B gene DOID:10283 prostate cancer ISO RGD:732248 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621016 Pde7b phosphodiesterase 7B gene DOID:630 genetic disease ISO RGD:732248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732668 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080855 Parkinsonism IEP D RGD:1581410|PMID:16529858 20090227 RGD 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:289 endometriosis IEP D RGD:2303708|PMID:17845203 20090227 RGD mRNA:increased expression:uterus 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:9003936 Cardiomegaly IEP D RGD:2303711|PMID:17039281 20090227 RGD 621017 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISS RGD:732669 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 621018 Mta1 metastasis associated 1 gene DOID:14330 Parkinson's disease ISO RGD:731516 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27044752 621018 Mta1 metastasis associated 1 gene DOID:289 endometriosis ISO RGD:731516 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 621018 Mta1 metastasis associated 1 gene DOID:630 genetic disease ISO RGD:731516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621018 Mta1 metastasis associated 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731516 D RGD:9588220|PMID:11804687 20141022 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:increased expression:lung 621019 Stx4 syntaxin 4 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731468 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 621019 Stx4 syntaxin 4 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:731468 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 621019 Stx4 syntaxin 4 gene DOID:10003 sensorineural hearing loss ISO RGD:731468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:30311386 621019 Stx4 syntaxin 4 gene DOID:630 genetic disease ISO RGD:731468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621019 Stx4 syntaxin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621020 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 621020 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 621020 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:630 genetic disease ISO RGD:1343620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621020 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 621020 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9263 homocystinuria ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 621020 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317850 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1317850 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317850 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11584022|PMID:15733854|PMID:28492532 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:7240710 20190315 OMIM 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy PMID:24706940|PMID:25741868|PMID:27426735|PMID:27891590|PMID:28492532 621022 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317850 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Global developmental delay 621023 Lama5 laminin subunit alpha 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 621023 Lama5 laminin subunit alpha 5 gene DOID:0060327 omphalocele ISO RGD:1354079 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868|PMID:32439764 621023 Lama5 laminin subunit alpha 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 621023 Lama5 laminin subunit alpha 5 gene DOID:0080918 polymicrogyria ISO RGD:1354079 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:28492532|PMID:29706646 621023 Lama5 laminin subunit alpha 5 gene DOID:0111365 benign familial hematuria ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hematuria PMID:28492532|PMID:29764427 621023 Lama5 laminin subunit alpha 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 621023 Lama5 laminin subunit alpha 5 gene DOID:10283 prostate cancer ISO RGD:1354079 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621023 Lama5 laminin subunit alpha 5 gene DOID:1184 nephrotic syndrome ISO RGD:1354079 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23999528|PMID:25741868|PMID:26553438|PMID:28492532|PMID:29534211|PMID:31321674 621023 Lama5 laminin subunit alpha 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354079 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 621023 Lama5 laminin subunit alpha 5 gene DOID:2975 cystic kidney disease ISS RGD:1551147 D RGD:13592920 20180518 MouseDO 621023 Lama5 laminin subunit alpha 5 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868|PMID:28544784 621023 Lama5 laminin subunit alpha 5 gene DOID:4621 holoprosencephaly ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532|PMID:28735299|PMID:29534211|PMID:31680349 621023 Lama5 laminin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:25741868|PMID:28492532 621023 Lama5 laminin subunit alpha 5 gene DOID:9000363 Hematuria ISO RGD:1354079 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Macroscopic hematuria PMID:25741868 621023 Lama5 laminin subunit alpha 5 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:1354079 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: distinct bent bone dysplasia PMID:28492532|PMID:33242826 621023 Lama5 laminin subunit alpha 5 gene DOID:9002189 High Myopia ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 621023 Lama5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:7240710 20221012 OMIM 621023 Lama5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 26 PMID:25741868|PMID:28492532|PMID:29534211|PMID:32439764|PMID:35419533 621023 Lama5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:7240710 20221102 OMIM 621023 Lama5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia syndrome 2 PMID:28492532|PMID:33242826 621023 Lama5 laminin subunit alpha 5 gene DOID:9007661 Dwarfism ISO RGD:1354079 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 621023 Lama5 laminin subunit alpha 5 gene DOID:9008582 Developmental Disease ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 621024 Rps10 ribosomal protein S10 gene DOID:0050553 JMP syndrome ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 621024 Rps10 ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:7240710 20130425 OMIM 621024 Rps10 ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 PMID:20116044|PMID:23718193|PMID:25741868|PMID:28492532 621024 Rps10 ribosomal protein S10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:20116044|PMID:20159986|PMID:23718193|PMID:25741868|PMID:28065601|PMID:28132843|PMID:28492532|PMID:9536098 621024 Rps10 ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:733640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20116044|PMID:25741868|PMID:28492532 621024 Rps10 ribosomal protein S10 gene DOID:9007874 Liver Failure IEP D RGD:11040911|PMID:501300 20160316 RGD 621025 Plcd4 phospholipase C, delta 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346447 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 621025 Plcd4 phospholipase C, delta 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 621025 Plcd4 phospholipase C, delta 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 621025 Plcd4 phospholipase C, delta 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 621025 Plcd4 phospholipase C, delta 4 gene DOID:630 genetic disease ISO RGD:1346447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621025 Plcd4 phospholipase C, delta 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346447 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621026 Rps11 ribosomal protein S11 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 621026 Rps11 ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:733888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621027 Rps13 ribosomal protein S13 gene DOID:1059 intellectual disability ISO RGD:737303 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621028 Dad1 defender against cell death 1 gene DOID:630 genetic disease ISO RGD:1350029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621028 Dad1 defender against cell death 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621029 Ltb4r2 leukotriene B4 receptor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 621029 Ltb4r2 leukotriene B4 receptor 2 gene DOID:630 genetic disease ISO RGD:1353949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621029 Ltb4r2 leukotriene B4 receptor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 621029 Ltb4r2 leukotriene B4 receptor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:732977 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 621029 Ltb4r2 leukotriene B4 receptor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621030 Csad cysteine sulfinic acid decarboxylase gene DOID:630 genetic disease ISO RGD:732204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621030 Csad cysteine sulfinic acid decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 621031 Rps16 ribosomal protein S16 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621031 Rps16 ribosomal protein S16 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 621031 Rps16 ribosomal protein S16 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 621031 Rps16 ribosomal protein S16 gene DOID:2340 craniosynostosis ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 621031 Rps16 ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:737248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621031 Rps16 ribosomal protein S16 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 621031 Rps16 ribosomal protein S16 gene DOID:9269 maple syrup urine disease ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 621031 Rps16 ribosomal protein S16 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:1561 cognitive disorder ISO RGD:732873 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:1852 intrahepatic cholestasis IEP D RGD:2311605|PMID:18578998 20090724 RGD mRNA, protein:increased expression:liver 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:630 genetic disease ISO RGD:732873 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811326 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9002661 Diabetes Complications ISO RGD:732873 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732873 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:29943110 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9351 diabetes mellitus IEP D RGD:2311606|PMID:17259388 20090724 RGD mRNA:increased expression:pancreatic islet 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732873 D RGD:2311604|PMID:18781616 20090724 RGD DNA:polymorphisms: :multiple 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9452 fatty liver disease ISO RGD:732873 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9455 lipid storage disease ISO RGD:732873 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:1600912|PMID:11136233 20070330 RGD 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:7240710 20130221 OMIM 621032 Nr0b2 nuclear receptor subfamily 0, group B, member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 621033 Opn1sw opsin 1, short wave sensitive gene DOID:0060224 atrial fibrillation ISO RGD:736424 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 621033 Opn1sw opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:7240710 20130221 OMIM 621033 Opn1sw opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blue color blindness PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:2937147 621033 Opn1sw opsin 1, short wave sensitive gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736424 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621033 Opn1sw opsin 1, short wave sensitive gene DOID:630 genetic disease ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621034 Leprot leptin receptor overlapping transcript gene DOID:1059 intellectual disability ISO RGD:1353937 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 621034 Leprot leptin receptor overlapping transcript gene DOID:630 genetic disease ISO RGD:1353937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621034 Leprot leptin receptor overlapping transcript gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:1353937 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:28492532 621034 Leprot leptin receptor overlapping transcript gene DOID:9970 obesity ISO RGD:1353937 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:28492532 621035 Pde9a phosphodiesterase 9A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 621035 Pde9a phosphodiesterase 9A gene DOID:0110266 cataract 9 multiple types ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 621035 Pde9a phosphodiesterase 9A gene DOID:12858 Huntington's disease treatment IMP D RGD:243048432|PMID:25315303 20230330 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:12930 dilated cardiomyopathy ISO RGD:733534 D RGD:240550109|PMID:25799991 20230324 RGD protein:increased expression:heart 621035 Pde9a phosphodiesterase 9A gene DOID:6000 congestive heart failure severity ISO RGD:733534 D RGD:240191787|PMID:33787083 20230324 RGD mRNA:increased expression:heart, peripheral blood mononuclear cell 621035 Pde9a phosphodiesterase 9A gene DOID:6000 congestive heart failure treatment IMP D RGD:241060360|PMID:28649129 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:630 genetic disease ISO RGD:733534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621035 Pde9a phosphodiesterase 9A gene DOID:8725 vascular dementia treatment ISO RGD:733535 D RGD:242905183|PMID:30916555 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:891 progressive myoclonus epilepsy ISO RGD:733534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 621035 Pde9a phosphodiesterase 9A gene DOID:9000543 Death sexual_dimorphism ISO RGD:733534 D RGD:242905186|PMID:35959094 20230324 RGD associated with coronary artery disease;DNA:SNP: :rs8133010 (human) 621035 Pde9a phosphodiesterase 9A gene DOID:9003197 Vaso-occlusive Crisis treatment ISO RGD:733535 D RGD:242905184|PMID:22833547 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment IMP D RGD:241060360|PMID:28649129 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:733535 D RGD:240550109|PMID:25799991 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:733535 D RGD:242905185|PMID:33464954 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:733535 D RGD:242170038|PMID:34618683 20230324 RGD 621035 Pde9a phosphodiesterase 9A gene DOID:9263 homocystinuria ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 621035 Pde9a phosphodiesterase 9A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621035 Pde9a phosphodiesterase 9A gene DOID:9970 obesity treatment ISO RGD:733535 D RGD:242170038|PMID:34618683 20230324 RGD 621036 Tkt transketolase gene DOID:2384 Wernicke encephalopathy ISO RGD:732645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3762968 621036 Tkt transketolase gene DOID:305 carcinoma ISO RGD:732645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621036 Tkt transketolase gene DOID:630 genetic disease ISO RGD:732645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621036 Tkt transketolase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621036 Tkt transketolase gene DOID:9002669 Hypoxia ISO RGD:732645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 621036 Tkt transketolase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 621036 Tkt transketolase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621036 Tkt transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:7240710 20190315 OMIM 621036 Tkt transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transketolase deficiency PMID:25741868|PMID:27259054|PMID:28492532 621037 Rps20 ribosomal protein S20 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:32790018 621037 Rps20 ribosomal protein S20 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736603 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24941021|PMID:28492532 621039 Rps23 ribosomal protein S23 gene DOID:9003486 Brachycephaly, Trichomegaly, and Developmental Delay ISO RGD:1343302 D RGD:7240710 20190315 OMIM 621039 Rps23 ribosomal protein S23 gene DOID:9003486 Brachycephaly, Trichomegaly, and Developmental Delay ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay PMID:25741868|PMID:28257692 621039 Rps23 ribosomal protein S23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343302 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621040 Rps24 ribosomal protein S24 gene DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:734142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22855961|PMID:25741868|PMID:27029625 621040 Rps24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:7240710 20130221 OMIM 621040 Rps24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:17186470|PMID:20960466|PMID:23812780|PMID:25741868|PMID:26845104|PMID:27329125|PMID:28492532|PMID:29748317|PMID:30228860 621040 Rps24 ribosomal protein S24 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17186470|PMID:17576681|PMID:19689926|PMID:20960466|PMID:22855961|PMID:25741868|PMID:26136524|PMID:27029625|PMID:28492532|PMID:29748317|PMID:9536098 621040 Rps24 ribosomal protein S24 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353925 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1353925 D RGD:13432053|PMID:24632606 20170914 RGD 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:3070 high grade glioma treatment ISO RGD:1353925 D RGD:13782053|PMID:28260020 20180816 RGD 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1353925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353925 D RGD:13432045|PMID:24837077 20170913 RGD associated with Adenocarcinoma, Colon 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353925 D RGD:13432046|PMID:21978709 20170914 RGD 621042 Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1353925 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 621043 Rps25 ribosomal protein s25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621043 Rps25 ribosomal protein s25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 621043 Rps25 ribosomal protein s25 gene DOID:0080690 RASopathy ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 621043 Rps25 ribosomal protein s25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353637 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 621043 Rps25 ribosomal protein s25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353637 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 621043 Rps25 ribosomal protein s25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621043 Rps25 ribosomal protein s25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621043 Rps25 ribosomal protein s25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621043 Rps25 ribosomal protein s25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621043 Rps25 ribosomal protein s25 gene DOID:5419 schizophrenia ISO RGD:1353637 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621043 Rps25 ribosomal protein s25 gene DOID:630 genetic disease ISO RGD:1353637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621043 Rps25 ribosomal protein s25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353637 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621043 Rps25 ribosomal protein s25 gene DOID:9007661 Dwarfism ISO RGD:1353637 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 621044 Rps26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:7240710 20230125 OMIM 621044 Rps26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:16199547|PMID:17483715|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22045982|PMID:22381658|PMID:22689679|PMID:23718193|PMID:23812780|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28102861|PMID:28492532|PMID:29114930|PMID:9536098 621044 Rps26 ribosomal protein S26 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1344988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:17483715|PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 621044 Rps26 ribosomal protein S26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19816270|PMID:20116044|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532 621044 Rps26 ribosomal protein S26 gene DOID:2355 anemia ISO RGD:1344988 D RGD:8554872 20230124 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 621044 Rps26 ribosomal protein S26 gene DOID:4961 bone marrow disease ISO RGD:1344988 D RGD:8554872 20230124 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 621044 Rps26 ribosomal protein S26 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344988 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621044 Rps26 ribosomal protein S26 gene DOID:9000918 Disease Progression ISO RGD:1344988 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621045 Rps27 ribosomal protein S27 gene DOID:0070048 GAND syndrome ISO RGD:732460 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 621045 Rps27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:7240710 20190315 OMIM 621045 Rps27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 PMID:25424902|PMID:25741868 621045 Rps27 ribosomal protein S27 gene DOID:0111940 immunodeficiency 42 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621045 Rps27 ribosomal protein S27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621045 Rps27 ribosomal protein S27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 621045 Rps27 ribosomal protein S27 gene DOID:1540 parathyroid carcinoma ISO RGD:732460 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621045 Rps27 ribosomal protein S27 gene DOID:5812 MHC class II deficiency ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621045 Rps27 ribosomal protein S27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732460 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621046 Rps28 ribosomal protein S28 gene DOID:0080490 mucolipidosis type IV ISO RGD:735338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 621046 Rps28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:7240710 20160907 OMIM 621046 Rps28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:24942156|PMID:25741868 621046 Rps28 ribosomal protein S28 gene DOID:12849 autistic disorder ISO RGD:735338 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621046 Rps28 ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:735338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621046 Rps28 ribosomal protein S28 gene DOID:9004657 Weight Gain ISO RGD:735338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621047 Plrg1 pleiotropic regulator 1 gene DOID:630 genetic disease ISO RGD:733629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621048 Gtf3c1 general transcription factor IIIC subunit 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 621048 Gtf3c1 general transcription factor IIIC subunit 1 gene DOID:630 genetic disease ISO RGD:736274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621048 Gtf3c1 general transcription factor IIIC subunit 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736274 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:1345881 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0111996 immunodeficiency 51 ISO RGD:1345881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1059 intellectual disability ISO RGD:1345881 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:11198 DiGeorge syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:11372 megacolon ISO RGD:1345881 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:1345881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:12583 velocardiofacial syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:12849 autistic disorder ISO RGD:1345881 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1588 thrombocytopenia ISO RGD:1345881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1588 thrombocytopenia ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1682 congenital heart disease ISO RGD:1345881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1826 epilepsy ISO RGD:1345881 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2213 hemorrhagic disease ISO RGD:1345881 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:11040528|PMID:9116284 20160309 RGD DNA:mutations:cds:p.Y88C,A108P(human) 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:11040530|PMID:12945881 20160309 RGD DNA:deletion:cds: 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:7240710 20130221 OMIM 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:732124 D RGD:11040529|PMID:17095718 20160309 RGD 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1345881 D RGD:13464128|PMID:28131619 20171222 RGD DNA:missense mutation:exon:c.281A>G(p.D94G)(human) 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:3410 carotid artery thrombosis ISO RGD:732124 D RGD:11040529|PMID:17095718 20160309 RGD 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:5419 schizophrenia ISO RGD:1345881 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:612 primary immunodeficiency disease ISO RGD:1345881 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:630 genetic disease ISO RGD:1345881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9003121 Thromboembolism ISO RGD:732124 D RGD:11040529|PMID:17095718 20160309 RGD 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9003871 Venous Thrombosis ISO RGD:1345881 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9004082 Mesenteric Ischemia ISO RGD:732124 D RGD:11040529|PMID:17095718 20160309 RGD 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345881 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9007661 Dwarfism ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1345881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 621050 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345881 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 621052 Lamc1 laminin subunit gamma 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 621052 Lamc1 laminin subunit gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1318553 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621052 Lamc1 laminin subunit gamma 1 gene DOID:14323 Marfan syndrome ISO RGD:1318553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 621052 Lamc1 laminin subunit gamma 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318553 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621052 Lamc1 laminin subunit gamma 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318553 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 621052 Lamc1 laminin subunit gamma 1 gene DOID:520 aortic disease ISO RGD:1318553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 621052 Lamc1 laminin subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1318553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621052 Lamc1 laminin subunit gamma 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:1318553 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30476904 621052 Lamc1 laminin subunit gamma 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 621052 Lamc1 laminin subunit gamma 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318553 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30476904 621052 Lamc1 laminin subunit gamma 1 gene DOID:9007402 Gliosis ISO RGD:1318553 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30476904 621052 Lamc1 laminin subunit gamma 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318553 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 621052 Lamc1 laminin subunit gamma 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318553 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621053 Lamc2 laminin subunit gamma 2 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11231327|PMID:11564184|PMID:11907499|PMID:15373767|PMID:16199547|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:27696112|PMID:28492532|PMID:31395954|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 621053 Lamc2 laminin subunit gamma 2 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISS RGD:1315385 D RGD:13592920 20220407 MouseDO OMIM:226700 621053 Lamc2 laminin subunit gamma 2 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1315384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24550734 621053 Lamc2 laminin subunit gamma 2 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1315384 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:11564184|PMID:25741868|PMID:27375110|PMID:28492532 621053 Lamc2 laminin subunit gamma 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 621053 Lamc2 laminin subunit gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1315384 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621053 Lamc2 laminin subunit gamma 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1315384 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:25741868|PMID:28492532 621053 Lamc2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1315384 D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism 621053 Lamc2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1315384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:11231327|PMID:11810295|PMID:11907499|PMID:15370542|PMID:15373767|PMID:15538630|PMID:16473856|PMID:17916201|PMID:21198797|PMID:21801158|PMID:25741868|PMID:26739954|PMID:28492532|PMID:28830826|PMID:31395954|PMID:31980526|PMID:9856849 621053 Lamc2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1315384 D RGD:1600210|PMID:8012393 20070302 RGD DNA:splice-site mutation, deletion-insertion 621053 Lamc2 laminin subunit gamma 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1315384 D RGD:13793371|PMID:23124251 20181003 RGD 621053 Lamc2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 621053 Lamc2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:13793368|PMID:10964684 20181003 RGD mRNA:increased expression:lung: 621053 Lamc2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315384 D RGD:13793367|PMID:26180921 20181003 RGD 621053 Lamc2 laminin subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:1315384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 621053 Lamc2 laminin subunit gamma 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1315384 D RGD:13793369|PMID:12855645 20181003 RGD DNA:hyper-methylation:promoter: 621053 Lamc2 laminin subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1315384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621053 Lamc2 laminin subunit gamma 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315384 D RGD:13793371|PMID:23124251 20181003 RGD associated with lung squamous cell carcinoma; 621053 Lamc2 laminin subunit gamma 2 gene DOID:9000918 Disease Progression ISO RGD:1315384 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 621053 Lamc2 laminin subunit gamma 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315384 D RGD:11075980|PMID:25591736 20181003 RGD associated with lung adenocarcinoma; 621053 Lamc2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:7240710 20220608 OMIM 621053 Lamc2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate PMID:11564184|PMID:11810295|PMID:11907499|PMID:15538630|PMID:16199547|PMID:16473856|PMID:28492532|PMID:28830826 621053 Lamc2 laminin subunit gamma 2 gene DOID:9001600 Wounds and Injuries ISO RGD:1315384 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15541073 621053 Lamc2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:7240710 20220608 OMIM 621053 Lamc2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe PMID:10951251|PMID:11810295|PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:28492532|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 621053 Lamc2 laminin subunit gamma 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315384 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 621053 Lamc2 laminin subunit gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315384 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:732553 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:1059 intellectual disability ISO RGD:732553 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:10652 Alzheimer's disease ISO RGD:732553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19734902|PMID:21460841 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:630 genetic disease ISO RGD:732553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:732553 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732553 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia ISO RGD:732553 D RGD:7240710 20130221 OMIM 621054 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732553 D RGD:1600760|PMID:12461747 20070326 RGD DNA:inversion: :inv(11)(q14q23) 621055 Acot2 acyl-CoA thioesterase 2 gene DOID:1059 intellectual disability ISO RGD:1605691 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 621055 Acot2 acyl-CoA thioesterase 2 gene DOID:630 genetic disease ISO RGD:1605691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621055 Acot2 acyl-CoA thioesterase 2 gene DOID:9003936 Cardiomegaly IEP D RGD:2315862|PMID:15292030 20100114 RGD mRNA:decreased expression:heart (rat) 621055 Acot2 acyl-CoA thioesterase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315861|PMID:17438340 20100114 RGD protein:increased expression:heart, mitochondrion (rat) 621055 Acot2 acyl-CoA thioesterase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621055 Acot2 acyl-CoA thioesterase 2 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:1625728|PMID:16979414 20100114 RGD 621056 Ybx3 Y box binding protein 3 gene DOID:630 genetic disease ISO RGD:733766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621056 Ybx3 Y box binding protein 3 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:2311250|PMID:11750989 20090701 RGD mRNA:increased expression:retinal ganglion cell 621057 Tnc tenascin C gene DOID:0080322 polycystic kidney disease IEP D RGD:4889614|PMID:15565633 20101207 RGD protein:increased expression:kidney 621057 Tnc tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:7240710 20140911 OMIM 621057 Tnc tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:30311386|PMID:31190668 621057 Tnc tenascin C gene DOID:10003 sensorineural hearing loss ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:25741868 621057 Tnc tenascin C gene DOID:10320 asbestosis ISO RGD:1354144 D RGD:4889594|PMID:10950882 20101207 RGD protein:increased expression:pleura 621057 Tnc tenascin C gene DOID:106 pleural tuberculosis ISO RGD:1354144 D RGD:4889594|PMID:10950882 20101207 RGD protein:increased expression:pleura 621057 Tnc tenascin C gene DOID:11204 allergic conjunctivitis ISO RGD:1354144 D RGD:4889589|PMID:18305139 20101207 RGD DNA:SNPs: :multiple (human) 621057 Tnc tenascin C gene DOID:11830 myopia ISO RGD:1354144 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 621057 Tnc tenascin C gene DOID:13100 intracranial vasospasm ISO RGD:1354144 D RGD:4889600|PMID:19589197 20101207 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:serum 621057 Tnc tenascin C gene DOID:1324 lung cancer ISO RGD:1354144 D RGD:4889612|PMID:16928692 20101207 RGD protein:increased expression:lung 621057 Tnc tenascin C gene DOID:13406 pulmonary sarcoidosis ISO RGD:1354144 D RGD:4889595|PMID:9780295 20101207 RGD protein:increased expression:respiratory system fluid/secretion 621057 Tnc tenascin C gene DOID:1532 pleural disease ISO RGD:1354144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10950882 621057 Tnc tenascin C gene DOID:1909 melanoma ISO RGD:1354144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 621057 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16115819 621057 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:4889569|PMID:16115819 20101206 RGD DNA:SNP:exon:p.L1677I (human) 621057 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:4889572|PMID:9310019 20101206 RGD protein:increased expression:bronchus basement membrane 621057 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:4889589|PMID:18305139 20101207 RGD DNA:SNPs: :multiple (human) 621057 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1615156 D RGD:4889565|PMID:17125141 20101206 RGD 621057 Tnc tenascin C gene DOID:289 endometriosis ISO RGD:1354144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 621057 Tnc tenascin C gene DOID:3068 glioblastoma ISO RGD:1354144 D RGD:4889612|PMID:16928692 20101207 RGD 621057 Tnc tenascin C gene DOID:3070 high grade glioma IEP D RGD:4889612|PMID:16928692 20101207 RGD protein:increased expression:brain 621057 Tnc tenascin C gene DOID:3798 pleural empyema ISO RGD:1354144 D RGD:4889594|PMID:10950882 20101207 RGD protein:increased expression:pleura 621057 Tnc tenascin C gene DOID:4947 cholangiocarcinoma severity IEP D RGD:4889598|PMID:20816680 20101207 RGD 621057 Tnc tenascin C gene DOID:552 pneumonia ISO RGD:1354144 D RGD:4889573|PMID:19721293 20101206 RGD protein:increased expression:serum, respiratory system fluid/secretion 621057 Tnc tenascin C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354144 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 621057 Tnc tenascin C gene DOID:5844 myocardial infarction IEP D RGD:4889618|PMID:11454990 20101207 RGD protein:increased expression:heart, fibroblast 621057 Tnc tenascin C gene DOID:630 genetic disease ISO RGD:1354144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30311386 621057 Tnc tenascin C gene DOID:6432 pulmonary hypertension IDA D RGD:4889570|PMID:15879421 20101206 RGD 621057 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:4889562|PMID:20528622 20101206 RGD protein:increased expression:plasma 621057 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:4889567|PMID:16782755 20101206 RGD 621057 Tnc tenascin C gene DOID:6432 pulmonary hypertension severity IEP D RGD:4889564|PMID:19288153 20101206 RGD 621057 Tnc tenascin C gene DOID:799 varicose veins ISO RGD:1354144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 621057 Tnc tenascin C gene DOID:841 extrinsic allergic alveolitis ISO RGD:1354144 D RGD:4889595|PMID:9780295 20101207 RGD protein:increased expression:respiratory system fluid/secretion 621057 Tnc tenascin C gene DOID:850 lung disease ISO RGD:1615156 D RGD:4889561|PMID:20833777 20101206 RGD Acute Lung Injury 621057 Tnc tenascin C gene DOID:850 lung disease ISO RGD:1615156 D RGD:4889568|PMID:16690978 20101206 RGD Acute Lung Injury 621057 Tnc tenascin C gene DOID:9000039 Spinal Cord Injuries IEP D RGD:4889619|PMID:11085900 20101207 RGD mRNA:increased expression:spinal cord 621057 Tnc tenascin C gene DOID:9000310 Lung Injury ISO RGD:1354144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18978301 621057 Tnc tenascin C gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:4889600|PMID:19589197 20101207 RGD protein:increased expression:basilar artery 621057 Tnc tenascin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354144 D RGD:4889612|PMID:16928692 20101207 RGD associated with Carcinoma, Renal Cell;protein:increased expression:lung 621057 Tnc tenascin C gene DOID:9001472 Nasal Polyps ISO RGD:1354144 D RGD:4889591|PMID:12916355 20101207 RGD protein:increased expression:nasal cavity epithelium 621057 Tnc tenascin C gene DOID:9003566 Mesothelioma ISO RGD:1354144 D RGD:4889612|PMID:16928692 20101207 RGD 621057 Tnc tenascin C gene DOID:9003566 Mesothelioma disease_progression ISO RGD:1354144 D RGD:4889571|PMID:12605648 20101206 RGD 621057 Tnc tenascin C gene DOID:9004538 Hearing Loss ISO RGD:1354144 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 621057 Tnc tenascin C gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4889609|PMID:17999372 20101207 RGD 621057 Tnc tenascin C gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1354144 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 621057 Tnc tenascin C gene DOID:9007480 Hyperoxia ISO RGD:1615156 D RGD:4889566|PMID:17001473 20101206 RGD protein:increased expression:lung 621057 Tnc tenascin C gene DOID:9007736 Vertigo ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868 621057 Tnc tenascin C gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:4889599|PMID:20554738 20101207 RGD 621059 Ccna2 cyclin A2 gene DOID:0080600 COVID-19 ISO RGD:1348754 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621059 Ccna2 cyclin A2 gene DOID:1059 intellectual disability ISO RGD:1348754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 621059 Ccna2 cyclin A2 gene DOID:3308 embryonal carcinoma ISO RGD:1348754 D RGD:2293346|PMID:14696091 20080528 RGD protein:increased expression:testis 621059 Ccna2 cyclin A2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348754 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 621059 Ccna2 cyclin A2 gene DOID:5844 myocardial infarction IEP D RGD:10054471|PMID:23634243 20150807 RGD protein:increased expression:cardiomyocyte: 621059 Ccna2 cyclin A2 gene DOID:6000 congestive heart failure ISO RGD:1550849 D RGD:2293348|PMID:16820573 20080528 RGD 621059 Ccna2 cyclin A2 gene DOID:630 genetic disease ISO RGD:1348754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621059 Ccna2 cyclin A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348754 D RGD:2293346|PMID:14696091 20080528 RGD associated with Seminoma;protein:increased expression:testis 621059 Ccna2 cyclin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621059 Ccna2 cyclin A2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:1550849 D RGD:2293344|PMID:16452231 20080528 RGD protein:increased expression:prostate gland 621059 Ccna2 cyclin A2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1348754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 621059 Ccna2 cyclin A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348754 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621059 Ccna2 cyclin A2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550849 D RGD:2293347|PMID:10713672 20080528 RGD protein:increased expression:mammary gland 621059 Ccna2 cyclin A2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316310|PMID:20031167 20150807 RGD 621059 Ccna2 cyclin A2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:10054494|PMID:18667424 20150810 RGD mRNA:increased expression:artery: 621059 Ccna2 cyclin A2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1550849 D RGD:10054468|PMID:17382628 20150807 RGD 621060 Psen2 presenilin 2 gene DOID:0080600 COVID-19 ISO RGD:733569 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621060 Psen2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:7240710 20130221 OMIM 621060 Psen2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10631141|PMID:10732806|PMID:10846187|PMID:11193137|PMID:11723295|PMID:12549925|PMID:12925374|PMID:14623725|PMID:14681895|PMID:14769392|PMID:15055444|PMID:15130954|PMID:15258222|PMID:15389756|PMID:15663477|PMID:15776278|PMID:16155344|PMID:16199547|PMID:16474849|PMID:16533963|PMID:16959576|PMID:17186461|PMID:17345043|PMID:17576681|PMID:17914065|PMID:18350357|PMID:18427071|PMID:18667258|PMID:18727676|PMID:18833506|PMID:18834536|PMID:19073399|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20301414|PMID:20333730|PMID:20375137|PMID:20420489|PMID:20457965|PMID:20458010|PMID:20634584|PMID:21234330|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21559247|PMID:21911706|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22221884|PMID:22249458|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22753229|PMID:22805202|PMID:22834455|PMID:23365231|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24093083|PMID:24559647|PMID:24594196|PMID:24669286|PMID:24704512|PMID:24754482|PMID:24844686|PMID:24880964|PMID:24928124|PMID:25104557|PMID:25323700|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26166204|PMID:26220970|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26522186|PMID:26836416|PMID:26899768|PMID:27293189|PMID:27883225|PMID:28008242|PMID:28166811|PMID:28191889|PMID:28243073|PMID:28350801|PMID:28492532|PMID:29692703|PMID:30021643|PMID:30045758|PMID:30279455|PMID:30412492|PMID:30598257|PMID:30636737|PMID:30822634|PMID:30822648|PMID:30954774|PMID:31020001|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32317127|PMID:32345996|PMID:32917274|PMID:35328387|PMID:7550356|PMID:7638622|PMID:7651536|PMID:8661049|PMID:8939861|PMID:8986743|PMID:9050898|PMID:9384602|PMID:9450781|PMID:9536098|PMID:9813158 621060 Psen2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:7240710 20130425 OMIM 621060 Psen2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1V PMID:14623725|PMID:14769392|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18350357|PMID:18667258|PMID:18727676|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20375137|PMID:20420489|PMID:20458010|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21959359|PMID:22118943|PMID:22221884|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22753229|PMID:22834455|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24559647|PMID:24669286|PMID:24754482|PMID:24844686|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26899768|PMID:28008242|PMID:28191889|PMID:28492532|PMID:30045758|PMID:30279455|PMID:30598257|PMID:30636737|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 621060 Psen2 presenilin 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868 621060 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9050898|PMID:12925374|PMID:16651627 621060 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:1302522|PMID:9246481 19990101 RGD DNA:missense mutations:cds:p.N141I, p.M239V (human) 621060 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:11723295|PMID:14623725|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18667258|PMID:19768372|PMID:20194882|PMID:21409510|PMID:22221884|PMID:22312439|PMID:22475797|PMID:22503161|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26836416|PMID:26899768|PMID:28492532|PMID:30045758|PMID:30279455|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 621060 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:9743900|PMID:10976645 19990101 RGD DNA:missense mutation:cds:p.N141I (human) 621060 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:733569 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N141I (human) PMID:10976645|REF_RGD_ID:9743900 621060 Psen2 presenilin 2 gene DOID:11088 asphyxia neonatorum ISO RGD:733569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 621060 Psen2 presenilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17186461 621060 Psen2 presenilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20458010|PMID:21483645|PMID:22412221|PMID:24754482|PMID:28492532 621060 Psen2 presenilin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733569 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621060 Psen2 presenilin 2 gene DOID:1612 breast cancer susceptibility ISO RGD:733569 D RGD:9068941 20200609 RGD protein:amino acid substitution:R62H, R71W PMID:16474849|REF_RGD_ID:2302525 621060 Psen2 presenilin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:733570 D RGD:1302521|PMID:10518543 19990101 RGD 621060 Psen2 presenilin 2 gene DOID:630 genetic disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621060 Psen2 presenilin 2 gene DOID:8725 vascular dementia ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 621060 Psen2 presenilin 2 gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:733570 D RGD:1302521|PMID:10518543 19990101 RGD 621060 Psen2 presenilin 2 gene DOID:9007282 Huntington's Disease-Like Syndrome ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like syndrome PMID:28492532|PMID:30279455|PMID:30822634 621060 Psen2 presenilin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733569 D RGD:2302525|PMID:16474849 20081223 RGD human gene: protein:amino acid substitution:R62H, R71W 621060 Psen2 presenilin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733569 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621061 Kat5 lysine acetyltransferase 5 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:732354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:25741868 621061 Kat5 lysine acetyltransferase 5 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:732354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:25741868 621061 Kat5 lysine acetyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:732354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621061 Kat5 lysine acetyltransferase 5 gene DOID:11758 iron deficiency anemia IEP D RGD:2301196|PMID:18723004 20141029 RGD mRNA:increased expression:hippocampus (rat) 621061 Kat5 lysine acetyltransferase 5 gene DOID:1612 breast cancer severity ISO RGD:732354 D RGD:9586031|PMID:22199269 20141003 RGD mRNA:altered expression:breast (human) 621061 Kat5 lysine acetyltransferase 5 gene DOID:1790 malignant mesothelioma ISO RGD:732354 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:26780987 621061 Kat5 lysine acetyltransferase 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621061 Kat5 lysine acetyltransferase 5 gene DOID:2746 glycogen storage disease V ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621061 Kat5 lysine acetyltransferase 5 gene DOID:630 genetic disease ISO RGD:732354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621061 Kat5 lysine acetyltransferase 5 gene DOID:707 B-cell lymphoma severity ISO RGD:1550306 D RGD:9588481|PMID:17728759 20141029 RGD 621061 Kat5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:7240710 20210120 OMIM 621061 Kat5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 621061 Kat5 lysine acetyltransferase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732354 D RGD:9588480|PMID:23056207 20141029 RGD protein:increased expression:pancreas, nucleus (human) 621061 Kat5 lysine acetyltransferase 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 621061 Kat5 lysine acetyltransferase 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:25741868|PMID:28492532|PMID:28600438 621062 Clec4f C-type lectin domain family 4, member F gene DOID:543 dystonia ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621062 Clec4f C-type lectin domain family 4, member F gene DOID:630 genetic disease ISO RGD:1354444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621062 Clec4f C-type lectin domain family 4, member F gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621062 Clec4f C-type lectin domain family 4, member F gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621063 Csf1 colony stimulating factor 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:731067 D RGD:7257572|PMID:18981160 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731066 D RGD:7257589|PMID:17659436 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731067 D RGD:7257567|PMID:21885670 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:0080600 COVID-19 ISO RGD:731066 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 621063 Csf1 colony stimulating factor 1 gene DOID:0080600 COVID-19 severity ISO RGD:731066 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 621063 Csf1 colony stimulating factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 621063 Csf1 colony stimulating factor 1 gene DOID:12849 autistic disorder ISO RGD:731066 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621063 Csf1 colony stimulating factor 1 gene DOID:13533 osteopetrosis IAGP D RGD:628338|PMID:12379742 19990101 RGD DNA:insertion:cds (rat) 621063 Csf1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISS RGD:731067 D RGD:13592920 20180518 MouseDO 621063 Csf1 colony stimulating factor 1 gene DOID:13949 interstitial cystitis treatment ISO RGD:731066 D RGD:7241234|PMID:22441309 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:1612 breast cancer ISO RGD:731066 D RGD:2293639|PMID:18172291 20080610 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:1790 malignant mesothelioma ISO RGD:731066 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 621063 Csf1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731066 D RGD:7257575|PMID:16166801 20130826 RGD associated with Kidney Failure, Chronic 621063 Csf1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731067 D RGD:734837|PMID:9637704 19990101 RGD protein:increased expression:plasma (mouse) 621063 Csf1 colony stimulating factor 1 gene DOID:289 endometriosis ISO RGD:731066 D RGD:38500240|PMID:22365076 20200812 RGD protein:increased expression:peritoneal fluid (human) 621063 Csf1 colony stimulating factor 1 gene DOID:2921 glomerulonephritis ISO RGD:731066 D RGD:7257579|PMID:11477167 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:3021 acute kidney failure ISO RGD:731067 D RGD:7257565|PMID:23143303 20130823 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:3070 high grade glioma IMP D RGD:2293641|PMID:15728459 20080610 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:418 systemic scleroderma IEP D RGD:7257593|PMID:22700848 20130827 RGD mRNA:increased expression:skin 621063 Csf1 colony stimulating factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment IDA D RGD:7257569|PMID:19242505 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:7257564|PMID:23628901 20130823 RGD mRNA:increased expression:kidney 621063 Csf1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:7257574|PMID:16951369 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:5408 Paget's disease of bone ISO RGD:731066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20436471 621063 Csf1 colony stimulating factor 1 gene DOID:630 genetic disease ISO RGD:731066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621063 Csf1 colony stimulating factor 1 gene DOID:783 end stage renal disease ISO RGD:731066 D RGD:7257586|PMID:11340249 20130826 RGD protein:increased expression:plasma 621063 Csf1 colony stimulating factor 1 gene DOID:9000808 Hypercholesterolemia IEP D RGD:1641957|PMID:9158105 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731066 D RGD:2293638|PMID:18510570 20080610 RGD associated with Prostatic Neoplasms 621063 Csf1 colony stimulating factor 1 gene DOID:9001542 Albuminuria treatment IDA D RGD:7257591|PMID:8573750 20130827 RGD associated with Hypercholesterolemia and Diabetes Mellitus, Experimental 621063 Csf1 colony stimulating factor 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731066 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 621063 Csf1 colony stimulating factor 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:127338469|PMID:32510872 20210707 RGD protein:increased expression:dorsal root ganglion 621063 Csf1 colony stimulating factor 1 gene DOID:9004001 Facial Nerve Injuries IEP D RGD:5131509|PMID:20831658 20110502 RGD protein:increased expression:facial VII nerve, microglial cell 621063 Csf1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection IEP D RGD:7257590|PMID:11981428 20130827 RGD mRNA:increased expression:kidney 621063 Csf1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:731066 D RGD:7257570|PMID:19196448 20130826 RGD mRNA:increased expression:kidney 621063 Csf1 colony stimulating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731066 D RGD:2293710|PMID:15205327 20080610 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:151665779|PMID:19219684 20220404 RGD mRNA,protein:increased expression:retina (rat) 621063 Csf1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731066 D RGD:7257570|PMID:19196448 20130826 RGD mRNA:increased expression:kidney 621063 Csf1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731067 D RGD:7257565|PMID:23143303 20130823 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:9007083 Edentulous Mouth IAGP D RGD:628338|PMID:12379742 20210218 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 621063 Csf1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731067 D RGD:2293640|PMID:16618760 20080610 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731067 D RGD:7257578|PMID:15383612 20130826 RGD 621063 Csf1 colony stimulating factor 1 gene DOID:9120 amyloidosis ISO RGD:731066 D RGD:7257581|PMID:12038073 20130826 RGD associated with Kidney Failure, Chronic 621063 Csf1 colony stimulating factor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:731066 D RGD:7257580|PMID:12110011 20130826 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22315502 621065 Csf2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia treatment ISO RGD:1354508 D RGD:10449526|PMID:9389708 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:0050852 limb ischemia ISO RGD:1551314 D RGD:10449511|PMID:16648859 20160108 RGD protein:increased expression:plasma: 621065 Csf2 colony stimulating factor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7680712|PMID:11486401|PMID:11732872 621065 Csf2 colony stimulating factor 2 gene DOID:0080074 neural tube defect ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17075842 621065 Csf2 colony stimulating factor 2 gene DOID:0080178 mucositis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 621065 Csf2 colony stimulating factor 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 621065 Csf2 colony stimulating factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621065 Csf2 colony stimulating factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:1354508 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 621065 Csf2 colony stimulating factor 2 gene DOID:0080855 Parkinsonism IDA D RGD:5131508|PMID:21291297 20110502 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:10325 silicosis IEP D RGD:10450467|PMID:21505002 20160113 RGD protein:increased expression:serum: 621065 Csf2 colony stimulating factor 2 gene DOID:10914 amnestic disorder ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8877002 621065 Csf2 colony stimulating factor 2 gene DOID:1115 sarcoma ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11605069 621065 Csf2 colony stimulating factor 2 gene DOID:11339 pneumocystosis IEP D RGD:5131475|PMID:19487471 20110428 RGD protein:increased expression:respiratory system fluid/secretion 621065 Csf2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1354508 D RGD:10449509|PMID:9763547 20160108 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1354508 D RGD:10449522|PMID:11179134 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1354508 D RGD:5131467|PMID:21478218 20110428 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISS RGD:1551314 D RGD:13592920 20180518 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 621065 Csf2 colony stimulating factor 2 gene DOID:1227 neutropenia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7875148|PMID:11264156 621065 Csf2 colony stimulating factor 2 gene DOID:1227 neutropenia treatment ISO RGD:1354508 D RGD:10449510|PMID:10832225 20160108 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9885444|PMID:12221670 621065 Csf2 colony stimulating factor 2 gene DOID:12987 agranulocytosis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8120554|PMID:11732872 621065 Csf2 colony stimulating factor 2 gene DOID:13375 temporal arteritis ISO RGD:1354508 D RGD:11059502|PMID:9844760 20160414 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:13949 interstitial cystitis IEP D RGD:2317284|PMID:18848347 20110502 RGD protein:increased expression:urine 621065 Csf2 colony stimulating factor 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 621065 Csf2 colony stimulating factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1551314 D RGD:5686773|PMID:21537082 20120126 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 621065 Csf2 colony stimulating factor 2 gene DOID:1588 thrombocytopenia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8297739 621065 Csf2 colony stimulating factor 2 gene DOID:1909 melanoma ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11061616 621065 Csf2 colony stimulating factor 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1551314 D RGD:10450245|PMID:10830715 20160112 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:2355 anemia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8297739|PMID:11732872 621065 Csf2 colony stimulating factor 2 gene DOID:2799 bronchiolitis obliterans IEP D RGD:2317286|PMID:18557728 20110502 RGD associated with Respiratory Aspiration;protein:increased expression:serum 621065 Csf2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:10449521|PMID:9717963 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:5131473|PMID:20405019 20110428 RGD protein:increased expression:lung 621065 Csf2 colony stimulating factor 2 gene DOID:2841 asthma severity ISO RGD:1354508 D RGD:5131476|PMID:19213775 20110428 RGD protein:increased expression:sputum 621065 Csf2 colony stimulating factor 2 gene DOID:305 carcinoma ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11605069 621065 Csf2 colony stimulating factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354508 D RGD:5131476|PMID:19213775 20110428 RGD protein:increased expression:sputum 621065 Csf2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis IEP D RGD:10449530|PMID:9881949 20160111 RGD mRNA:increased expression:lung: 621065 Csf2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 621065 Csf2 colony stimulating factor 2 gene DOID:530 eyelid disease ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17075842 621065 Csf2 colony stimulating factor 2 gene DOID:5419 schizophrenia ISO RGD:1354508 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621065 Csf2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 621065 Csf2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1551314 D RGD:4142837|PMID:19633061 20110428 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:5844 myocardial infarction IMP D RGD:5131507|PMID:21326109 20110502 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:6000 congestive heart failure ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 621065 Csf2 colony stimulating factor 2 gene DOID:630 genetic disease ISO RGD:1354508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621065 Csf2 colony stimulating factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551314 D RGD:10450243|PMID:12731087 20160112 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:707 B-cell lymphoma treatment ISO RGD:1551314 D RGD:10450244|PMID:8469286 20160112 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 621065 Csf2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20201001 RGD protein:decreased expression:serum (rat) 621065 Csf2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm severity IEP D RGD:10450246|PMID:15010288 20160112 RGD mRNA:increased expression:aorta: 621065 Csf2 colony stimulating factor 2 gene DOID:8893 psoriasis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 621065 Csf2 colony stimulating factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1354508 D RGD:10449531|PMID:15658127 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9000111 Radiation Injuries ISO RGD:1551314 D RGD:10449513|PMID:7662961 20160108 RGD mRNA:increased expression:bone marrow,spleen: 621065 Csf2 colony stimulating factor 2 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7680712|PMID:9817281 621065 Csf2 colony stimulating factor 2 gene DOID:9000641 Pain ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 621065 Csf2 colony stimulating factor 2 gene DOID:9000998 Brain Injuries disease_progression IDA D RGD:5686795|PMID:21515263 20120126 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1354508 D RGD:5131472|PMID:20427198 20110428 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1551314 D RGD:5131470|PMID:21474645 20110428 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14654953 621065 Csf2 colony stimulating factor 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 621065 Csf2 colony stimulating factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354508 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621065 Csf2 colony stimulating factor 2 gene DOID:9004484 Sepsis ISO RGD:1354508 D RGD:10449523|PMID:10664226 20160111 RGD protein:increased expression:plasma: 621065 Csf2 colony stimulating factor 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 621065 Csf2 colony stimulating factor 2 gene DOID:9005036 Bacteremia treatment ISO RGD:1551314 D RGD:10449532|PMID:2192004 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9005372 Inflammation ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159501 621065 Csf2 colony stimulating factor 2 gene DOID:9005532 Muscle Weakness ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 621065 Csf2 colony stimulating factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7960606 621065 Csf2 colony stimulating factor 2 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1354508 D RGD:4143440|PMID:20088864 20110428 RGD protein:increased expression:nasal mucus 621065 Csf2 colony stimulating factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621065 Csf2 colony stimulating factor 2 gene DOID:9007073 Cough treatment ISO RGD:1354508 D RGD:10449525|PMID:9525446 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1354508 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:17326190 621065 Csf2 colony stimulating factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1551314 D RGD:10449524|PMID:1966550 20160111 RGD associated with Neutropenia; 621065 Csf2 colony stimulating factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15289873 621065 Csf2 colony stimulating factor 2 gene DOID:9008763 Femoral Fractures IEP D RGD:5131471|PMID:21442011 20110428 RGD protein:increased expression:serum 621065 Csf2 colony stimulating factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11325840 621065 Csf2 colony stimulating factor 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 621065 Csf2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 621065 Csf2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1354508 D RGD:10449528|PMID:1826536 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 621065 Csf2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1354508 D RGD:10449527|PMID:8035028 20160111 RGD 621065 Csf2 colony stimulating factor 2 gene DOID:9538 multiple myeloma ISO RGD:1354508 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7540856|PMID:8104070|PMID:8555506 621066 Eml2 EMAP like 2 gene DOID:630 genetic disease ISO RGD:734198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621067 Emb embigin gene DOID:3042 allergic contact dermatitis ISO RGD:1342878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 621067 Emb embigin gene DOID:630 genetic disease ISO RGD:1342878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621067 Emb embigin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621067 Emb embigin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342878 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621068 Asic4 acid sensing ion channel subunit family member 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 621068 Asic4 acid sensing ion channel subunit family member 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 621068 Asic4 acid sensing ion channel subunit family member 4 gene DOID:1148 polydactyly ISO RGD:1604616 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 621068 Asic4 acid sensing ion channel subunit family member 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 621068 Asic4 acid sensing ion channel subunit family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604616 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621069 Rest RE1-silencing transcription factor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1347756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 621069 Rest RE1-silencing transcription factor gene DOID:0080280 gingival fibromatosis 5 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 621069 Rest RE1-silencing transcription factor gene DOID:0080280 gingival fibromatosis 5 ISO RGD:1347756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5 PMID:25741868|PMID:28492532|PMID:28686854|PMID:33719663 621069 Rest RE1-silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621069 Rest RE1-silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 621069 Rest RE1-silencing transcription factor gene DOID:0110556 autosomal dominant nonsyndromic deafness 27 ISO RGD:1347756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 27 PMID:25741868|PMID:28492532|PMID:29961578|PMID:34828371 621069 Rest RE1-silencing transcription factor gene DOID:2154 nephroblastoma ISO RGD:1347756 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551668 621069 Rest RE1-silencing transcription factor gene DOID:630 genetic disease ISO RGD:1347756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621069 Rest RE1-silencing transcription factor gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1347756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 PMID:28492532|PMID:28686854 621069 Rest RE1-silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 621069 Rest RE1-silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:7240710 20230517 OMIM 621069 Rest RE1-silencing transcription factor gene DOID:9007268 Wilms Tumor 6 ISO RGD:1347756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilms tumor 6 PMID:25741868|PMID:26551668|PMID:28492532 621070 Kif6 kinesin family member 6 gene DOID:0080685 aortic dissection ISO RGD:1346574 D RGD:243048448|PMID:28097184 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:10763 hypertension susceptibility ISO RGD:1346574 D RGD:243048456|PMID:34961832 20230331 RGD DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human) 621070 Kif6 kinesin family member 6 gene DOID:1287 cardiovascular system disease no_association ISO RGD:1346574 D RGD:243048453|PMID:21871624 20230331 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease ISO RGD:1346574 D RGD:243048446|PMID:18222354 20230331 RGD DNA:SNP: :rs20455 (human) 621070 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease no_association ISO RGD:1346574 D RGD:243048447|PMID:19371834 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease no_association ISO RGD:1346574 D RGD:243048449|PMID:26997531 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease no_association ISO RGD:1346574 D RGD:243048451|PMID:21458191 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:1346574 D RGD:243048454|PMID:25629058 20230331 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease treatment ISO RGD:1346574 D RGD:11527801|PMID:26443250 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21943003 621070 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:243048446|PMID:18222354 20230331 RGD DNA:SNP: :rs20455 (human) 621070 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction no_association ISO RGD:1346574 D RGD:243048447|PMID:19371834 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction no_association ISO RGD:1346574 D RGD:243048449|PMID:26997531 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction no_association ISO RGD:1346574 D RGD:243048450|PMID:20927332 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction treatment ISO RGD:1346574 D RGD:11097528|PMID:20403483 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:630 genetic disease ISO RGD:1346574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621070 Kif6 kinesin family member 6 gene DOID:9007096 Stroke ISO RGD:1346574 D RGD:2317144|PMID:19752551 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:9352 type 2 diabetes mellitus sexual_dimorphism ISO RGD:1346574 D RGD:243048454|PMID:25629058 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621070 Kif6 kinesin family member 6 gene DOID:9408 acute myocardial infarction ISO RGD:1346574 D RGD:243048455|PMID:20044086 20230331 RGD DNA:SNP: :p.W719R (rs20455) (human) 621071 Kif27 kinesin family member 27 gene DOID:10908 hydrocephalus ISS RGD:1553484 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 621071 Kif27 kinesin family member 27 gene DOID:630 genetic disease ISO RGD:1344489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:10534 stomach cancer ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26720728|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29367421|PMID:29922827|PMID:31036035|PMID:31371347|PMID:31843900|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34196900|PMID:36988593 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1324 lung cancer ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20077502|PMID:25741868|PMID:26467025|PMID:26738429|PMID:28492532 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1520 colon carcinoma ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:20077502|PMID:25741868|PMID:26350354|PMID:26467025|PMID:26738429|PMID:28135145|PMID:28492532|PMID:31371347 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30374176|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34754157|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34196900|PMID:34754157|PMID:34906988|PMID:36988593|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:2315714|PMID:17333333 20100108 RGD DNA:polymorphism: :p.C557S (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:2315715|PMID:17972171 20100108 RGD DNA:polymorphisms: :multiple (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:2315717|PMID:16333312 20100108 RGD DNA:polymorphisms: :p.V507M, p.C557S (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer severity ISO RGD:736238 D RGD:2315727|PMID:16152612 20100111 RGD protein:increased expression, altered localization:breast 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:2315713|PMID:17028982 20100108 RGD DNA:polymorphisms: :p.P24S, p.R378S (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:2315716|PMID:16768547 20100108 RGD DNA:polymorphism: :p.C557S (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:2315729|PMID:14550946 20100111 RGD DNA:polymorphism: :p.V507M (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:7240710 20230505 OMIM 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:1781 thyroid gland cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:25186627|PMID:25741868|PMID:26315354|PMID:26787654|PMID:26976419|PMID:28492532 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:2315727|PMID:16152612 20100111 RGD DNA, mRNA, protein:missense mutation, alternative form, increased expression, altered localization:p.Q406R, ovary (human) 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:15855157|PMID:19139070|PMID:23056176|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26757417|PMID:26787654|PMID:27498913|PMID:28051113|PMID:28492532|PMID:28912018|PMID:29905759|PMID:30093976|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31666926|PMID:31871109|PMID:32008151|PMID:32068069|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33646313|PMID:34754157|PMID:35402282 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:736238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20077502|PMID:21344236|PMID:25330149|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27443514|PMID:28008555|PMID:28492532|PMID:29625052|PMID:30947698|PMID:31036035|PMID:32295079|PMID:33471991 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:3204 neurilemmomatosis ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schwannomatosis 2 PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28717660|PMID:30925164|PMID:32980694|PMID:33471991 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:3459 breast carcinoma ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:20077502|PMID:21344236|PMID:25741868|PMID:28492532|PMID:28724667|PMID:31036035|PMID:32658311|PMID:32832836 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736238 D RGD:127229947|PMID:21815143 20210604 RGD 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:12832489|PMID:15855157|PMID:16199547|PMID:17550235|PMID:17848578|PMID:19139070|PMID:20077502|PMID:21344236|PMID:22006311|PMID:23056176|PMID:23334666|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27443514|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:32295079|PMID:32566746|PMID:32832836 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:630 genetic disease ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:687 hepatoblastoma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26580448|PMID:28492532 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:769 neuroblastoma ISO RGD:736238 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19412175|PMID:23334666 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736238 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25741868|PMID:26315354|PMID:26467025|PMID:26787654|PMID:28135145|PMID:28492532|PMID:30925164|PMID:31371347|PMID:32068069|PMID:33471991 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736238 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733490 D RGD:2293149|PMID:18443292 20100108 RGD 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30680046|PMID:30804502|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32980694|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34359559|PMID:34906988|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30804502|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:36187937|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26076356|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9007346 Cachexia IEP D RGD:2315732|PMID:16685375 20100111 RGD associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20077502|PMID:21344236|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:29566657|PMID:30925164 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11807980|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26076356|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34359559|PMID:34754157|PMID:34789768|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:936 brain disease ISO RGD:736238 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 621072 Bard1 BRCA1 associated RING domain 1 gene DOID:9538 multiple myeloma ISO RGD:736238 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0080690 RASopathy ISO RGD:731337 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:5419 schizophrenia ISO RGD:731337 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:630 genetic disease ISO RGD:731337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731337 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:731337 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Facial hypotonia 621073 Usp2 ubiquitin specific peptidase 2 gene DOID:9007661 Dwarfism ISO RGD:731337 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:735754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:114 heart disease ISO RGD:735754 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:2298808|PMID:15972578 20080725 RGD Uterine leiomyoma 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:735754 D RGD:4107084|PMID:20420713 20100714 RGD mRNA:decreased expression:kidney 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:630 genetic disease ISO RGD:735754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735754 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:8719 in situ carcinoma ISO RGD:735754 D RGD:2301712|PMID:15123780 20081029 RGD testicular CIS; mRNA:increased expression:tumor (human) 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:9000784 Fibrosis ISO RGD:735754 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 621074 Sfrp1 secreted frizzled-related protein 1 gene DOID:9775 diastolic heart failure ISO RGD:735754 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:7240710 20190315 OMIM 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pyle metaphyseal dysplasia PMID:25741868|PMID:27355534|PMID:28492532|PMID:33193738 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350997 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:5119 ovarian cyst ISO RGD:1350997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:630 genetic disease ISO RGD:1350997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1350997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:9007102 Myocardial Ischemia IEP D RGD:4107721|PMID:20528676 20100716 RGD 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 621075 Sfrp4 secreted frizzled-related protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23140642 621076 Pdlim5 PDZ and LIM domain 5 gene DOID:12930 dilated cardiomyopathy ISS RGD:1553828 D RGD:13592920 20180518 MouseDO 621076 Pdlim5 PDZ and LIM domain 5 gene DOID:630 genetic disease ISO RGD:1344700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621076 Pdlim5 PDZ and LIM domain 5 gene DOID:8778 Crohn's disease ISO RGD:1344700 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 621076 Pdlim5 PDZ and LIM domain 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621076 Pdlim5 PDZ and LIM domain 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344700 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621077 Oga O-GlcNAcase gene DOID:630 genetic disease ISO RGD:732641 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621077 Oga O-GlcNAcase gene DOID:9004009 Reperfusion Injury IMP D RGD:2305957|PMID:16899550 20090318 RGD 621078 Crlf2 cytokine receptor-like factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 621078 Crlf2 cytokine receptor-like factor 2 gene DOID:12849 autistic disorder ISO RGD:1352132 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621078 Crlf2 cytokine receptor-like factor 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1352132 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:19907440|PMID:19965641|PMID:20018760|PMID:22368272 621078 Crlf2 cytokine receptor-like factor 2 gene DOID:9002801 Recurrence ISO RGD:1352132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22904298 621078 Crlf2 cytokine receptor-like factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352132 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 621079 Slc20a1 solute carrier family 20 member 1 gene DOID:289 endometriosis ISO RGD:1349725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 621079 Slc20a1 solute carrier family 20 member 1 gene DOID:630 genetic disease ISO RGD:1349725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621079 Slc20a1 solute carrier family 20 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621079 Slc20a1 solute carrier family 20 member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1349725 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 621079 Slc20a1 solute carrier family 20 member 1 gene DOID:9004397 calcification of aortic valve ISO RGD:1349725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 621080 Nudt1 nudix hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:731881 D RGD:10449033|PMID:21538080 20151214 RGD protein:decreased expression:hippocampus 621080 Nudt1 nudix hydrolase 1 gene DOID:10763 hypertension IEP D RGD:10449166|PMID:17280880 20151221 RGD 621080 Nudt1 nudix hydrolase 1 gene DOID:630 genetic disease ISO RGD:731881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621080 Nudt1 nudix hydrolase 1 gene DOID:9001191 Cadmium Poisoning IEP D RGD:633232|PMID:11817101 20151214 RGD 621080 Nudt1 nudix hydrolase 1 gene DOID:9002644 Premature Aging ISO RGD:731882 D RGD:10449033|PMID:21538080 20151214 RGD mRNA, protein:decreased expression:hippocampus 621080 Nudt1 nudix hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:724605|PMID:12036445 20151222 RGD mRNA:increased expression:mammary gland 621080 Nudt1 nudix hydrolase 1 gene DOID:9008691 Liver Injury IEP D RGD:10449034|PMID:9547863 20151214 RGD 621081 Tgm2 transglutaminase 2 gene DOID:0050524 maturity-onset diabetes of the young ISS RGD:732488 D RGD:13592920 20180518 MouseDO OMIM:606391 621081 Tgm2 transglutaminase 2 gene DOID:10608 celiac disease ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17190764 621081 Tgm2 transglutaminase 2 gene DOID:10763 hypertension ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17898543 621081 Tgm2 transglutaminase 2 gene DOID:1793 pancreatic cancer ISO RGD:732487 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:30108682 621081 Tgm2 transglutaminase 2 gene DOID:2234 focal epilepsy ISO RGD:732487 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621081 Tgm2 transglutaminase 2 gene DOID:3068 glioblastoma ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16170020|PMID:17099729 621081 Tgm2 transglutaminase 2 gene DOID:4450 renal cell carcinoma ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 621081 Tgm2 transglutaminase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:732488 D RGD:39938956|PMID:31200771 20201015 RGD associated with Schistosomiasis Japonica 621081 Tgm2 transglutaminase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:732488 D RGD:39938956|PMID:31200771 20201015 RGD associated with Schistosomiasis Japonica 621081 Tgm2 transglutaminase 2 gene DOID:630 genetic disease ISO RGD:732487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621081 Tgm2 transglutaminase 2 gene DOID:8398 osteoarthritis ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621081 Tgm2 transglutaminase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 621081 Tgm2 transglutaminase 2 gene DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:1302539|PMID:12702643 20150204 RGD 621081 Tgm2 transglutaminase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16170020 621081 Tgm2 transglutaminase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732487 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 621083 Ccnd2 cyclin D2 gene DOID:0050912 colon adenoma severity ISO RGD:730903 D RGD:151665121|PMID:11375949 20220311 RGD 621083 Ccnd2 cyclin D2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 621083 Ccnd2 cyclin D2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730903 D RGD:2289156|PMID:14601057 20080124 RGD DNA:hypermethylation:promoter, breast 621083 Ccnd2 cyclin D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 621083 Ccnd2 cyclin D2 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:730903 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 621083 Ccnd2 cyclin D2 gene DOID:10283 prostate cancer ISO RGD:730903 D RGD:2289151|PMID:17016690 20080124 RGD DNA, mRNA:hyperymethylation, decreased expression:promoter, prostate gland 621083 Ccnd2 cyclin D2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730903 D RGD:151665170|PMID:16322291 20220315 RGD 621083 Ccnd2 cyclin D2 gene DOID:10534 stomach cancer ISO RGD:730903 D RGD:151665103|PMID:11552926 20220310 RGD protein:increased expression:stomach 621083 Ccnd2 cyclin D2 gene DOID:10534 stomach cancer disease_progression ISO RGD:730903 D RGD:151665106|PMID:25960238 20220310 RGD 621083 Ccnd2 cyclin D2 gene DOID:10534 stomach cancer severity ISO RGD:730903 D RGD:151665101|PMID:10666388 20220310 RGD 621083 Ccnd2 cyclin D2 gene DOID:10908 hydrocephalus ISO RGD:730903 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 621083 Ccnd2 cyclin D2 gene DOID:10952 nephritis IEP D RGD:2289180|PMID:15654821 20080125 RGD mRNA:increased expression:kidney cortex 621083 Ccnd2 cyclin D2 gene DOID:1591 renovascular hypertension IEP D RGD:151664604|PMID:26300251 20220308 RGD protein:increased expression:left ventricle: 621083 Ccnd2 cyclin D2 gene DOID:1612 breast cancer disease_progression ISO RGD:730903 D RGD:151665105|PMID:30308939 20220310 RGD 621083 Ccnd2 cyclin D2 gene DOID:1686 glaucoma IEP D RGD:2289160|PMID:18055803 20080125 RGD mRNA:increased expression:retina 621083 Ccnd2 cyclin D2 gene DOID:1826 epilepsy ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783 621083 Ccnd2 cyclin D2 gene DOID:1875 impotence IEP D RGD:2289159|PMID:18068478 20080125 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:penis 621083 Ccnd2 cyclin D2 gene DOID:2043 hepatitis B ISO RGD:730903 D RGD:151664743|PMID:33320844 20220309 RGD mRNA:decreased expression:Peripheral Blood Mononuclear Cell 621083 Ccnd2 cyclin D2 gene DOID:2043 hepatitis B disease_progression ISO RGD:730903 D RGD:151664744|PMID:20414251 20220309 RGD DNA:SNP, haplotype:exon :rs1049606(human) 621083 Ccnd2 cyclin D2 gene DOID:2154 nephroblastoma ISO RGD:730903 D RGD:2289153|PMID:15797629 20080124 RGD 621083 Ccnd2 cyclin D2 gene DOID:219 colon cancer IEP D RGD:2289181|PMID:15059925 20080125 RGD mRNA:increased expression:colon 621083 Ccnd2 cyclin D2 gene DOID:2671 transitional cell carcinoma IDA D RGD:2289150|PMID:17017434 20080124 RGD DNA:hypermethylation:urinary bladder, urine 621083 Ccnd2 cyclin D2 gene DOID:2999 granulosa cell tumor ISO RGD:730903 D RGD:2289157|PMID:11994539 20080125 RGD mRNA:increased expression:ovary 621083 Ccnd2 cyclin D2 gene DOID:3304 germinoma ISO RGD:730903 D RGD:2296039|PMID:17167184 20080624 RGD 621083 Ccnd2 cyclin D2 gene DOID:3457 invasive lobular carcinoma ISO RGD:730903 D RGD:2289156|PMID:14601057 20080124 RGD DNA:hypermethylation:promoter, breast 621083 Ccnd2 cyclin D2 gene DOID:3571 liver cancer disease_progression ISO RGD:730903 D RGD:151665105|PMID:30308939 20220310 RGD 621083 Ccnd2 cyclin D2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:730903 D RGD:151665105|PMID:30308939 20220310 RGD DNA:hypermethylation:promoter 621083 Ccnd2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:151665100|PMID:31253987 20220310 RGD mRNA:increased expression:lung 621083 Ccnd2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:151665108|PMID:30227870 20220310 RGD protein:increased expression:lung 621083 Ccnd2 cyclin D2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:730903 D RGD:151665105|PMID:30308939 20220310 RGD 621083 Ccnd2 cyclin D2 gene DOID:4440 seminoma ISO RGD:730903 D RGD:2289154|PMID:15747581 20080124 RGD mRNA, protein:increased expression:testis 621083 Ccnd2 cyclin D2 gene DOID:5082 liver cirrhosis ISO RGD:730903 D RGD:151664743|PMID:33320844 20220309 RGD associated with hepatitis B;mRNA:decreased expression:Peripheral Blood Mononuclear Cell 621083 Ccnd2 cyclin D2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:730903 D RGD:151665142|PMID:14612939 20220311 RGD 621083 Ccnd2 cyclin D2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:730903 D RGD:151665349|PMID:9778110 20220322 RGD 621083 Ccnd2 cyclin D2 gene DOID:5517 stomach carcinoma severity ISO RGD:730903 D RGD:151665142|PMID:14612939 20220311 RGD 621083 Ccnd2 cyclin D2 gene DOID:630 genetic disease ISO RGD:730903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593 621083 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma ISO RGD:730903 D RGD:151665109|PMID:31059558 20220310 RGD DNA:hypermethylation:CpG site 621083 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730903 D RGD:151664743|PMID:33320844 20220309 RGD associated with hepatitis B 621083 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730903 D RGD:151664743|PMID:33320844 20220309 RGD associated with hepatitis B 621083 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730903 D RGD:151665169|PMID:22004425 20220315 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human) 621083 Ccnd2 cyclin D2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730903 D RGD:151665111|PMID:19508551 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum 621083 Ccnd2 cyclin D2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730903 D RGD:2296041|PMID:11358847 20080624 RGD mRNA, protein:increased expression:testis 621083 Ccnd2 cyclin D2 gene DOID:9000784 Fibrosis ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16306446 621083 Ccnd2 cyclin D2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730903 D RGD:2289155|PMID:15131050 20080124 RGD associated with Breast Neoplasms;DNA:hypermethylated:brain 621083 Ccnd2 cyclin D2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17016690 621083 Ccnd2 cyclin D2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:730903 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:24705253|PMID:29642246 621083 Ccnd2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17270028 621083 Ccnd2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730903 D RGD:2296038|PMID:17270028 20080624 RGD DNA:hypermethylation:promoter 621083 Ccnd2 cyclin D2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 621083 Ccnd2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:7240710 20170201 OMIM 621083 Ccnd2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31056854|PMID:33818783 621083 Ccnd2 cyclin D2 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:730903 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 621083 Ccnd2 cyclin D2 gene DOID:9003816 Macrocephaly ISO RGD:730903 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 621083 Ccnd2 cyclin D2 gene DOID:9003936 Cardiomegaly ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15576649 621083 Ccnd2 cyclin D2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:730903 D RGD:32716380|PMID:20189883 20200626 RGD mRNA:increased expression:CD19+Bcell: 621083 Ccnd2 cyclin D2 gene DOID:9004207 Testicular Neoplasms ISO RGD:730903 D RGD:2289152|PMID:15800920 20080124 RGD mRNA:increased expression:testis 621083 Ccnd2 cyclin D2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:151664604|PMID:26300251 20220308 RGD protein:increased expression:left ventricle: 621083 Ccnd2 cyclin D2 gene DOID:9006618 Liver Metastasis ISO RGD:730903 D RGD:151665111|PMID:19508551 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum 621083 Ccnd2 cyclin D2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621083 Ccnd2 cyclin D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:730903 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 621083 Ccnd2 cyclin D2 gene DOID:9008114 Helicobacter Infections ISO RGD:730903 D RGD:151665119|PMID:12133540 20220311 RGD mRNA:increased expression:stomach: 621083 Ccnd2 cyclin D2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:730903 D RGD:151665103|PMID:11552926 20220310 RGD associated with Gastrointestinal Neoplasms or gastritis 621083 Ccnd2 cyclin D2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730903 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 621083 Ccnd2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:2289149|PMID:17549626 20080124 RGD DNA:hypermethylation:breast 621083 Ccnd2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:2289158|PMID:11289162 20080125 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast 621083 Ccnd2 cyclin D2 gene DOID:9119 acute myeloid leukemia ISO RGD:730903 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 621083 Ccnd2 cyclin D2 gene DOID:9256 colorectal cancer ISO RGD:730903 D RGD:151664740|PMID:28933597 20220309 RGD mRNA, protein:increased expression:colorectum 621083 Ccnd2 cyclin D2 gene DOID:9256 colorectal cancer ISO RGD:730903 D RGD:151664741|PMID:31511084 20220309 RGD mRNA, protein:increased expression:colorectum 621083 Ccnd2 cyclin D2 gene DOID:9256 colorectal cancer severity ISO RGD:730903 D RGD:151665111|PMID:19508551 20220310 RGD 621083 Ccnd2 cyclin D2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:730903 D RGD:151665334|PMID:20473882 20220321 RGD 621083 Ccnd2 cyclin D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730903 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24464100 621083 Ccnd2 cyclin D2 gene DOID:9538 multiple myeloma ISO RGD:730903 D RGD:1581171|PMID:15755896 19990101 RGD 621084 Uba3 ubiquitin-like modifier activating enzyme 3 gene DOID:630 genetic disease ISO RGD:737348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621085 Crtac1 cartilage acidic protein 1 gene DOID:630 genetic disease ISO RGD:737274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730833 D RGD:2298909|PMID:12888825 20080731 RGD mRNA:increased expression:breast 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:1824 status epilepticus IEP D RGD:1625688|PMID:14614901 20070621 RGD mRNA:increased expression:hippocampus 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:1936 atherosclerosis ISO RGD:730833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:730833 D RGD:2298909|PMID:12888825 20080731 RGD mRNA:increased expression:breast 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:409 liver disease ISO RGD:730833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:730833 D RGD:11250478|PMID:26485275 20220128 RGD protein:decreased expression:bile duct (human) 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730833 D RGD:2298904|PMID:16878360 20080731 RGD mRNA:decreased expression:uterine cervix 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:630 genetic disease ISO RGD:730833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:684 hepatocellular carcinoma ISO RGD:730833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16831601 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730833 D RGD:2298901|PMID:18097573 20080731 RGD associated with Breast Neoplasms 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9000784 Fibrosis IEP D RGD:1625686|PMID:16012948 20070621 RGD 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:1625684|PMID:16507131 20070620 RGD mRNA:increased expression:mononuclear cell 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9004009 Reperfusion Injury IDA D RGD:632385|PMID:12437578 20070620 RGD associated with Brain Ischemia;mRNA, protein:increased expression:cerebral cortex 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis IEP D RGD:2298924|PMID:12644450 20080801 RGD protein:increased expression:gastrocnemius 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis IEP D RGD:634751|PMID:11312157 20080731 RGD mRNA:increased expression:liver 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730834 D RGD:2298899|PMID:18381452 20080731 RGD mRNA:increased expression:mammary gland 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2298911|PMID:18356406 20080731 RGD mRNA, protein:increased expression:retina 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:730834 D RGD:2313787|PMID:17562326 20091015 RGD 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20070621 RGD 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:730834 D RGD:2298923|PMID:15169905 20080801 RGD mRNA:increased expression:liver, skeletal muscle 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730834 D RGD:1625677|PMID:15240880 20080801 RGD associated with Obesity 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:730833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance ISO RGD:730834 D RGD:1625677|PMID:15240880 20080801 RGD associated with Diabetes Mellitus 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730834 D RGD:2313789|PMID:17295835 20091015 RGD associated with Obesity 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:730833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9007730 Burns IEP D RGD:730264|PMID:12392283 20070621 RGD mRNA, protein:increased expression:hepatocyte 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9008114 Helicobacter Infections IEP D RGD:1625683|PMID:17405912 20070620 RGD mRNA, protein:increased expression 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730833 D RGD:2313790|PMID:15331532 20091015 RGD mRNA:increased expression:skeletal muscle 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730834 D RGD:2313788|PMID:17513737 20091015 RGD 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:13506806|PMID:29110587 20180216 RGD 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9452 fatty liver disease ISO RGD:730834 D RGD:1625677|PMID:15240880 20080801 RGD associated with Obesity 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9970 obesity IEP D RGD:2298920|PMID:11027633 20080731 RGD mRNA, protein:increased expression:white fat 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:1625676|PMID:16920065 20070619 RGD mRNA:decreased expression:subcutaneous adipose tissue 621087 Socs3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:2313790|PMID:15331532 20091015 RGD mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0050144 Kartagener syndrome ISS RGD:1620923 D RGD:13592920 20180518 MouseDO 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348566 D RGD:734893|PMID:12142464 20070405 RGD DNA:nonsense mutation, missense mutation: :R2852X, R3004Q 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0050545 visceral heterotaxy ISS RGD:1620923 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0050651 atrioventricular septal defect ISS RGD:1620923 D RGD:13592920 20180518 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1348566 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1348566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:7240710 20130221 OMIM 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:12142464|PMID:16199547|PMID:17576681|PMID:18022865|PMID:18616530|PMID:19187973|PMID:20301301|PMID:20513915|PMID:21917145|PMID:22102620|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29467202|PMID:29997923|PMID:30067075|PMID:31040315|PMID:31507630|PMID:31607746|PMID:31772028|PMID:31879361|PMID:32502479|PMID:32622824|PMID:32633470|PMID:32860008|PMID:34008892|PMID:34298581|PMID:34513534|PMID:9536098|PMID:9585585 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:12336 male infertility ISO RGD:1348566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Male infertility PMID:22184204|PMID:25741868 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:13088 periventricular leukomalacia ISO RGD:1348566 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:24033266|PMID:25741868|PMID:28492532 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348566 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:5223 infertility ISO RGD:1348566 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:630 genetic disease ISO RGD:1348566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:674 cleft palate ISO RGD:1348566 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:28492532 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:9000528 Coronary Disease ISO RGD:1348566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348566 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:24033266|PMID:25741868|PMID:28492532 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:9003370 Dyslipidemias ISO RGD:1348566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:9004657 Weight Gain ISO RGD:1348566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621088 Dnah11 dynein, axonemal, heavy chain 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348566 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18022865|PMID:20513915|PMID:21911699|PMID:22102620|PMID:22184204|PMID:22499950|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29363216|PMID:29467202|PMID:29997923|PMID:30067075|PMID:30359267|PMID:30919572|PMID:31040315|PMID:31213628|PMID:31507630|PMID:31607746|PMID:31633846|PMID:31772028|PMID:31879361|PMID:32367404|PMID:32502479|PMID:32622824|PMID:33240318|PMID:33577779|PMID:33715250|PMID:34008892|PMID:34210339|PMID:34513534|PMID:9536098 621089 Cdh3 cadherin 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621089 Cdh3 cadherin 3 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1353368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 621089 Cdh3 cadherin 3 gene DOID:0110698 hypotrichosis 1 ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex 621089 Cdh3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:7240710 20130221 OMIM 621089 Cdh3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy PMID:10420194|PMID:11544476|PMID:12445216|PMID:14708629|PMID:15805154|PMID:16199547|PMID:17342797|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:30710256|PMID:31696509|PMID:32581362|PMID:34301208 621089 Cdh3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:7240710 20130221 OMIM 621089 Cdh3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EEM syndrome PMID:10420194|PMID:13372143|PMID:14708629|PMID:15805154|PMID:17576681|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362|PMID:9536098 621089 Cdh3 cadherin 3 gene DOID:10283 prostate cancer ISO RGD:1353368 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 621089 Cdh3 cadherin 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26306921|PMID:28492532|PMID:30718709 621089 Cdh3 cadherin 3 gene DOID:4448 macular degeneration ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10420194|PMID:14708629|PMID:15805154|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362 621089 Cdh3 cadherin 3 gene DOID:5119 ovarian cyst ISO RGD:1353368 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 621089 Cdh3 cadherin 3 gene DOID:630 genetic disease ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621089 Cdh3 cadherin 3 gene DOID:8501 fundus dystrophy ISO RGD:1353368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 621089 Cdh3 cadherin 3 gene DOID:8577 ulcerative colitis ISO RGD:1353368 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 621089 Cdh3 cadherin 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1353368 D RGD:1600801|PMID:15805154 20070327 RGD EEM syndrome, OMIM:225280;DNA:deletion, missense mutation:c.829delG, p.N332I 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0050553 JMP syndrome ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353044 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0060260 ptosis ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ptosis PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:28492532|PMID:30440138|PMID:30541864 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:23161826|PMID:23708187|PMID:25418537|PMID:25741868|PMID:26989088|PMID:28492532 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:23161826|PMID:25741868|PMID:26989088|PMID:28492532 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:7240710 20130425 OMIM 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19196676|PMID:20683986|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23161826|PMID:23687080|PMID:23708187|PMID:24690944|PMID:25167861|PMID:25186178|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25363768|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25852444|PMID:26079862|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27159028|PMID:27334371|PMID:28135719|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28576131|PMID:28600779|PMID:28708303|PMID:29390993|PMID:29778030|PMID:30440138|PMID:30455457|PMID:30541864|PMID:30564305|PMID:30577886|PMID:30901256|PMID:31349857|PMID:31395010|PMID:31554424|PMID:31981491|PMID:32238909|PMID:32730690|PMID:33639450|PMID:34782754|PMID:9536098 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1353044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21237447|PMID:23161826|PMID:23708187|PMID:25167861|PMID:25741868|PMID:26079862|PMID:26989088|PMID:28492532|PMID:28554332|PMID:30541864 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:12849 autistic disorder ISO RGD:1353044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1353044 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:23708187|PMID:29942082 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1353044 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:5419 schizophrenia ISS RGD:1617329 D RGD:13592920 20180518 MouseDO OMIM:181500 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19196676|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23033978|PMID:23161826|PMID:23708187|PMID:24690944|PMID:25326635|PMID:25356970|PMID:25418537|PMID:25741868|PMID:25852444|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27334371|PMID:28492532|PMID:30541864|PMID:31349857|PMID:31395010|PMID:31554424|PMID:32730690|PMID:34782754|PMID:9581761 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353044 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353044 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:16199547|PMID:21237447|PMID:23161826|PMID:23708187|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26989088|PMID:28492532|PMID:28708303|PMID:29778030|PMID:30541864 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353044 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 621090 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 621091 Cdh4 cadherin 4 gene DOID:630 genetic disease ISO RGD:1343938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621091 Cdh4 cadherin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343938 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 621091 Cdh4 cadherin 4 gene DOID:9007097 Microcephaly with Simplified Gyral Pattern ISO RGD:1343938 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Simplified gyral pattern PMID:29706646 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:13938 amenorrhea ISO RGD:733154 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:733154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:630 genetic disease ISO RGD:733154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:8398 osteoarthritis ISO RGD:733154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:7240710 20221221 OMIM 621092 Psmb1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language PMID:32129449 621093 Psmb7 proteasome 20S subunit beta 7 gene DOID:0060224 atrial fibrillation ISO RGD:732115 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 621093 Psmb7 proteasome 20S subunit beta 7 gene DOID:0080600 COVID-19 ISO RGD:732115 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621093 Psmb7 proteasome 20S subunit beta 7 gene DOID:630 genetic disease ISO RGD:732115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621094 Emp3 epithelial membrane protein 3 gene DOID:630 genetic disease ISO RGD:731841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621094 Emp3 epithelial membrane protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 621095 H3f3b H3.3 histone B gene DOID:2649 chondroblastoma ISO RGD:733608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 621095 H3f3b H3.3 histone B gene DOID:305 carcinoma ISO RGD:733609 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621095 H3f3b H3.3 histone B gene DOID:630 genetic disease ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33268356|PMID:34876591 621095 H3f3b H3.3 histone B gene DOID:9000402 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 ISO RGD:733608 D RGD:7240710 20220223 OMIM 621095 H3f3b H3.3 histone B gene DOID:9000402 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 ISO RGD:733608 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 PMID:25741868|PMID:33268356|PMID:34876591 621095 H3f3b H3.3 histone B gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733609 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621095 H3f3b H3.3 histone B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733609 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621095 H3f3b H3.3 histone B gene DOID:9008086 Developmental Disabilities ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33268356|PMID:34876591 621096 Ube2n ubiquitin-conjugating enzyme E2N gene DOID:630 genetic disease ISO RGD:1348630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621096 Ube2n ubiquitin-conjugating enzyme E2N gene DOID:9004994 Embryo Loss ISO RGD:1348630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16738225 621097 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:734425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 621097 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:7240710 20221221 OMIM 621097 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 621097 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:10283 prostate cancer ISO RGD:734425 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621097 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:630 genetic disease ISO RGD:734425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621098 Phaf1 phagosome assembly factor 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621098 Phaf1 phagosome assembly factor 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1604592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 621099 Ppp1r2 protein phosphatase 1, regulatory (inhibitor) subunit 2 gene DOID:630 genetic disease ISO RGD:1343622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621101 Max MYC associated factor X gene DOID:0050771 pheochromocytoma ISO RGD:731306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685915 621101 Max MYC associated factor X gene DOID:0050771 pheochromocytoma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:34130653|PMID:7630640|PMID:9536098 621101 Max MYC associated factor X gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:731306 D RGD:7240710 20230505 OMIM 621101 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:7630640|PMID:9536098 621101 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 621101 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 621101 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 621101 Max MYC associated factor X gene DOID:2154 nephroblastoma ISO RGD:731306 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 621101 Max MYC associated factor X gene DOID:5409 lung small cell carcinoma ISO RGD:731306 D RGD:13793386|PMID:24362264 20181005 RGD DNA:loss of heterozygosity:lung 621101 Max MYC associated factor X gene DOID:768 retinoblastoma ISO RGD:731306 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 621101 Max MYC associated factor X gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:731306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:21685915|PMID:22452945|PMID:25741868|PMID:26070438|PMID:26467025|PMID:28492532|PMID:34130653 621101 Max MYC associated factor X gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 621101 Max MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 621101 Max MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:2340 craniosynostosis ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:332 amyotrophic lateral sclerosis ISS RGD:731557 D RGD:13592920 20180518 MouseDO 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:630 genetic disease ISO RGD:731556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:9269 maple syrup urine disease ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 621102 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621103 Bud31 BUD31 homolog gene DOID:1395 schistosomiasis IEP D RGD:10058982|PMID:22686541 20150811 RGD Protein:increased expression:serum (human) 621103 Bud31 BUD31 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604400 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621103 Bud31 BUD31 homolog gene DOID:630 genetic disease ISO RGD:1604400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621104 Slc22a25 solute carrier family 22, member 25 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621104 Slc22a25 solute carrier family 22, member 25 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1343950 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 621104 Slc22a25 solute carrier family 22, member 25 gene DOID:1059 intellectual disability ISO RGD:1343950 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621104 Slc22a25 solute carrier family 22, member 25 gene DOID:3883 Lynch syndrome ISO RGD:1343950 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 621104 Slc22a25 solute carrier family 22, member 25 gene DOID:630 genetic disease ISO RGD:1343950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621105 C1galt1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 gene DOID:0080600 COVID-19 ISO RGD:732029 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621105 C1galt1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 gene DOID:630 genetic disease ISO RGD:732029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0050777 Joubert syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:7240710 20140911 OMIM 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:17576681|PMID:18414213|PMID:18479385|PMID:20301348|PMID:23086396|PMID:23086397|PMID:24029078|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25590979|PMID:25741868|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26993267|PMID:27064559|PMID:27081515|PMID:27578169|PMID:27652284|PMID:27779742|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29186148|PMID:29196578|PMID:29358611|PMID:29390993|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31216405|PMID:31388363|PMID:31532594|PMID:31618474|PMID:32139178|PMID:32167590|PMID:34114611|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:7240710 20140911 OMIM 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:16025100|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18479385|PMID:19264732|PMID:19597493|PMID:19668216|PMID:20301348|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23086396|PMID:23086397|PMID:23386033|PMID:24029078|PMID:24120652|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25132448|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25516202|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25963545|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26820064|PMID:26993267|PMID:27029629|PMID:27064559|PMID:27081515|PMID:27159321|PMID:27578169|PMID:27652284|PMID:27779742|PMID:27891178|PMID:28125082|PMID:28366665|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29037447|PMID:29100083|PMID:29186148|PMID:29196578|PMID:29196579|PMID:29314583|PMID:29358611|PMID:29390993|PMID:29422393|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31388363|PMID:31532594|PMID:31560846|PMID:31618474|PMID:31872048|PMID:31875159|PMID:32086284|PMID:32167590|PMID:32613771|PMID:33650128|PMID:34114611|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:10908 hydrocephalus ISO RGD:734382 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29100083|PMID:29358611|PMID:29422393|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29358611|PMID:29422393|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29100083|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25482562|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26648591|PMID:26740507|PMID:26993267|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28492532|PMID:28987752|PMID:29100083|PMID:30182418 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:2234 focal epilepsy ISO RGD:734382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23086397 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:2234 focal epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29186148|PMID:34114611 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734382 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:3331 frontal lobe epilepsy ISO RGD:734382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23086396 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:3652 Leigh disease ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:5419 schizophrenia ISO RGD:734382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:630 genetic disease ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:23086397|PMID:24319675|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25640679|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26436452|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29186148|PMID:29358611|PMID:29422393|PMID:30182418|PMID:31388363|PMID:34114611|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:734382 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004991 Holoprosencephaly 12 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 621106 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23086397 621107 Tsn translin gene DOID:630 genetic disease ISO RGD:1351634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621108 Erg ETS transcription factor ERG gene DOID:1240 leukemia ISO RGD:1348469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19108891 621108 Erg ETS transcription factor ERG gene DOID:1826 epilepsy ISO RGD:1348469 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 621108 Erg ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease IEP D RGD:38549370|PMID:32209028 20200901 RGD protein:decreased expression:lung 621108 Erg ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1348469 D RGD:38549370|PMID:32209028 20200901 RGD protein:decreased expression:lung 621108 Erg ETS transcription factor ERG gene DOID:630 genetic disease ISO RGD:1348469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621108 Erg ETS transcription factor ERG gene DOID:8398 osteoarthritis ISS RGD:1550130 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 621108 Erg ETS transcription factor ERG gene DOID:8692 myeloid leukemia ISO RGD:1348469 D RGD:10450751|PMID:23719302 20160120 RGD 621108 Erg ETS transcription factor ERG gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348469 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:18798265|PMID:19396168|PMID:25735316|PMID:27223260|PMID:27783944|PMID:28783165 621108 Erg ETS transcription factor ERG gene DOID:9008192 Neoplastic Processes ISO RGD:1348469 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 621108 Erg ETS transcription factor ERG gene DOID:9119 acute myeloid leukemia ISO RGD:1348469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 621108 Erg ETS transcription factor ERG gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348469 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:27776115 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0080422 Dravet syndrome ISO RGD:734297 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:734297 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:5812 MHC class II deficiency ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:630 genetic disease ISO RGD:734297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621109 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734297 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621110 Psmd9 proteasome 26S subunit, non-ATPase 9 gene DOID:630 genetic disease ISO RGD:737461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:10534 stomach cancer exacerbates ISO RGD:733880 D RGD:151361171|PMID:32534699 20220227 RGD protein:decreased expression:stomach (human) 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:733880 D RGD:151361173|PMID:31523177 20220227 RGD protein:increased expression:stomach (human) 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:3910 lung adenocarcinoma ISO RGD:733880 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733880 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:630 genetic disease ISO RGD:733880 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733880 D RGD:151361172|PMID:31519701 20220227 RGD mRNA, protein:increased expression:liver (human) 621111 Cdk12 cyclin-dependent kinase 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733880 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 621112 Kcnh7 potassium voltage-gated channel subfamily H member 7 gene DOID:12849 autistic disorder ISO RGD:734396 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 621112 Kcnh7 potassium voltage-gated channel subfamily H member 7 gene DOID:630 genetic disease ISO RGD:734396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621113 Ttl tubulin tyrosine ligase gene DOID:630 genetic disease ISO RGD:732112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621114 Ttn titin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:17576681|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25016126|PMID:25448463|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28857138|PMID:30564623|PMID:9536098 621114 Ttn titin gene DOID:0050451 Brugada syndrome ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 621114 Ttn titin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1605120 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868 621114 Ttn titin gene DOID:0050638 transthyretin amyloidosis ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32246154|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:34137518|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:0050823 third-degree atrioventricular block ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31251381|PMID:31470098|PMID:31983221|PMID:34135346 621114 Ttn titin gene DOID:0060224 atrial fibrillation ISO RGD:1605120 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 621114 Ttn titin gene DOID:0060224 atrial fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17344846|PMID:20890277|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24459294|PMID:24503780|PMID:25626705|PMID:25741868|PMID:25979592|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26597493|PMID:26773040|PMID:27066551|PMID:28492532 621114 Ttn titin gene DOID:0060480 left ventricular noncompaction ISO RGD:1605120 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1605120 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868 621114 Ttn titin gene DOID:0080000 muscular disease ISO RGD:1605120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15802564 621114 Ttn titin gene DOID:0080000 muscular disease ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 621114 Ttn titin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:25741868 621114 Ttn titin gene DOID:0080100 congenital myopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27854218|PMID:28492532|PMID:29099038|PMID:31481236 621114 Ttn titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 621114 Ttn titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 621114 Ttn titin gene DOID:0080991 multiminicore disease ISO RGD:1605120 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868 621114 Ttn titin gene DOID:0090048 dystonia 16 ISO RGD:1605120 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 621114 Ttn titin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1605120 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26567375|PMID:26676851|PMID:28492532|PMID:29253866 621114 Ttn titin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27066507|PMID:28492532|PMID:28822653|PMID:31983221|PMID:9536098 621114 Ttn titin gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Calpainopathy PMID:25741868|PMID:27321809|PMID:27854218|PMID:28492532 621114 Ttn titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:7240710 20130425 OMIM 621114 Ttn titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:33333461|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34918981|PMID:35177841|PMID:35207729|PMID:9536098|PMID:9804419 621114 Ttn titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23910462|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28714951|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29029073|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662450|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33060286|PMID:33106378|PMID:33190517|PMID:33226272|PMID:33297573 621114 Ttn titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 621114 Ttn titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 621114 Ttn titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 621114 Ttn titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10462489|PMID:22335739 621114 Ttn titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:7240710 20130425 OMIM 621114 Ttn titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:10462489|PMID:11310621|PMID:16084088|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23514108|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24384345|PMID:24395473|PMID:24444549|PMID:24459294|PMID:24503780|PMID:24575448|PMID:24636144|PMID:24884718|PMID:24980681|PMID:25037085|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25448463|PMID:25500009|PMID:25589632|PMID:25741868|PMID:25825243|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26777568|PMID:27066551|PMID:27302369|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27854218|PMID:27854229|PMID:27930701|PMID:28045975|PMID:28166282|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29961767|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30453078|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31514951|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34540771|PMID:9536098 621114 Ttn titin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:17576681|PMID:21520333|PMID:22335739|PMID:23418287|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:31691645|PMID:32160020|PMID:32277046|PMID:33012304|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21520333|PMID:22335739|PMID:23418287|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:32160020|PMID:32277046|PMID:34782754 621114 Ttn titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:7240710 20130425 OMIM 621114 Ttn titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:10051295|PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11788824|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:16084088|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19763152|PMID:19911250|PMID:20301498|PMID:20307669|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21681106|PMID:21810661|PMID:22335739|PMID:22406018|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23297410|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25326637|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25640679|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26077850|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26315439|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26581302|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27182706|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27544385|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27625338|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27868403|PMID:27869827|PMID:27886618|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28357410|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28449774|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28714951|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29773157|PMID:29792937|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30012837|PMID:30021846|PMID:30025578|PMID:30061524|PMID:30086531|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30269836|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30557390|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662450|PMID:30665247|PMID:30666435|PMID:30681174|PMID:30724488|PMID:30770808|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30858397|PMID:30924900|PMID:30985088|PMID:30993396 621114 Ttn titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:31028938|PMID:31053406|PMID:31112426|PMID:31127727|PMID:31130284|PMID:31215789|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32846814|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33012304|PMID:33019804|PMID:33049752|PMID:33060286|PMID:33106378|PMID:33146414|PMID:33190517|PMID:33226272|PMID:33297573|PMID:33333461|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33481221|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34036930|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098|PMID:9804419 621114 Ttn titin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1605120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11788824 621114 Ttn titin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:12145747|PMID:17444505|PMID:18948003|PMID:21520333|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24395473|PMID:24503780|PMID:25214167|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26735901|PMID:27532257|PMID:27813223|PMID:27886618|PMID:28045975|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29447731|PMID:29540472|PMID:30109841|PMID:30535219|PMID:31112426|PMID:31514951|PMID:32039858|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:33432171|PMID:33500567|PMID:33874732 621114 Ttn titin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28135719|PMID:28492532|PMID:29253866 621114 Ttn titin gene DOID:0110957 Gaucher's disease type I ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile PMID:25741868 621114 Ttn titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:7240710 20180718 OMIM 621114 Ttn titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:7240710 20190703 OMIM 621114 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29997562|PMID:30086531|PMID:30365001|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31983221|PMID:32246154|PMID:32746448|PMID:32934002|PMID:33297573|PMID:33449170|PMID:34137518|PMID:9536098 621114 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145747 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29970176|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:34137518 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29961767|PMID:29970176|PMID:30531895|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:33692775|PMID:34137518 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30564623|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31589614|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32235935|PMID:32246154|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25974703|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 621114 Ttn titin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24892279|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569|PMID:32246154|PMID:32528171|PMID:32778822|PMID:34106991|PMID:34540771 621114 Ttn titin gene DOID:11836 clubfoot ISO RGD:1605120 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Bilateral talipes equinovarus PMID:23861362|PMID:25741868 621114 Ttn titin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1554051 D RGD:1580781|PMID:10462489 19990101 RGD 621114 Ttn titin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17344846|PMID:17576681|PMID:18414213|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24271327|PMID:24440382|PMID:24476948|PMID:24503780|PMID:25163546|PMID:25447171|PMID:25589632|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26676851|PMID:26718681|PMID:27066507|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28822653|PMID:28831623|PMID:29988065|PMID:30847666|PMID:30993396|PMID:31489791|PMID:31983221|PMID:33106378|PMID:33552729|PMID:33692775|PMID:34137518|PMID:9536098 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:11846417|PMID:17444505|PMID:27869827 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:11565821|PMID:27869827 20161128 RGD DNA:variants:cds: 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:1580779|PMID:15345656 19990101 RGD mRNA, protein:altered expression:heart 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30615648|PMID:30681174|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32233023|PMID:32235935|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:9536098 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33874732|PMID:34495297|PMID:34540771|PMID:9536098 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28941705|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33874732|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:9536098 621114 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:9536098 621114 Ttn titin gene DOID:14717 centronuclear myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:30609409 621114 Ttn titin gene DOID:1926 Gaucher's disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency PMID:25741868 621114 Ttn titin gene DOID:1969 cerebral palsy ISO RGD:1605120 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 621114 Ttn titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27930701|PMID:28492532|PMID:29253866 621114 Ttn titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27854218|PMID:27930701|PMID:28492532|PMID:29253866 621114 Ttn titin gene DOID:3393 coronary artery disease ISO RGD:1605120 D RGD:1580780|PMID:12221049 20161128 RGD 621114 Ttn titin gene DOID:3529 central core disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 621114 Ttn titin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31983221|PMID:32233023 621114 Ttn titin gene DOID:397 restrictive cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:17576681|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 621114 Ttn titin gene DOID:422 congenital structural myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotubular myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:30609409 621114 Ttn titin gene DOID:423 myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 621114 Ttn titin gene DOID:440 neuromuscular disease ISO RGD:1605120 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:29691892|PMID:31053406 621114 Ttn titin gene DOID:5844 myocardial infarction IEP D RGD:1580780|PMID:12221049 20161128 RGD 621114 Ttn titin gene DOID:6000 congestive heart failure ISO RGD:1605120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:15802564|PMID:17344846|PMID:23396983|PMID:23486992|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24231549|PMID:24271327|PMID:24503780|PMID:24569025|PMID:24578547|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27194543|PMID:27843123|PMID:28256728|PMID:28492532|PMID:28771489|PMID:29361395 621114 Ttn titin gene DOID:630 genetic disease ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10462489|PMID:11717165|PMID:12145747|PMID:12669942|PMID:17444505|PMID:1745277|PMID:18948003|PMID:21617319|PMID:21810661|PMID:22335739|PMID:23396983|PMID:23418287|PMID:23518707|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24105469|PMID:24395473|PMID:24503780|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26581302|PMID:26701604|PMID:27532257|PMID:27588451|PMID:27869827|PMID:27930701|PMID:28492532|PMID:29540472|PMID:30535219|PMID:30985088|PMID:31795264|PMID:32964742|PMID:33449170|PMID:33874732|PMID:34315225 621114 Ttn titin gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24271327|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28600387|PMID:28606400 621114 Ttn titin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23396983|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 621114 Ttn titin gene DOID:9000299 cardiac amyloidosis ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:23861362|PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:18948003|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26467025|PMID:26735901|PMID:28295036|PMID:28492532|PMID:32528171|PMID:32659924|PMID:32778822|PMID:32880476|PMID:33449170|PMID:33874732|PMID:34106991|PMID:34540771 621114 Ttn titin gene DOID:9000727 Syncope ISO RGD:1605120 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Syncope PMID:24033266|PMID:25741868 621114 Ttn titin gene DOID:9001276 Failure to Thrive ISO RGD:1605120 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:23861362|PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:9002521 Left Ventricular Noncompaction 2 ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 2 PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532 621114 Ttn titin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 621114 Ttn titin gene DOID:9003163 Heart Block ISO RGD:1605120 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 621114 Ttn titin gene DOID:9003631 Diastolic Dysfunction ISO RGD:1605120 D RGD:8554872 20150324 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction 621114 Ttn titin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:26467025|PMID:28492532 621114 Ttn titin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17344846|PMID:18414213|PMID:23396983|PMID:23675308|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26597493|PMID:27066551|PMID:28492532|PMID:28822653|PMID:29221435 621114 Ttn titin gene DOID:9005532 Muscle Weakness ISO RGD:1605120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17444505 621114 Ttn titin gene DOID:9005603 Muscle Hypotonia ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 621114 Ttn titin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1605120 D RGD:7240710 20130425 OMIM 621114 Ttn titin gene DOID:9006785 Congenital Myopathy 5 with Cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22238790|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741882|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098|PMID:9804419 621114 Ttn titin gene DOID:9007 sudden infant death syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17344846|PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28492532 621114 Ttn titin gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28831623 621114 Ttn titin gene DOID:9007102 Myocardial Ischemia IDA D RGD:1580780|PMID:12221049 19990101 RGD 621114 Ttn titin gene DOID:9007661 Dwarfism ISO RGD:1605120 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Short stature PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 621114 Ttn titin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:19608031|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 621114 Ttn titin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 621114 Ttn titin gene DOID:92 speech disorder ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Speech disorder PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 621114 Ttn titin gene DOID:9651 systolic heart failure ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 621114 Ttn titin gene DOID:988 mitral valve prolapse ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:22335739|PMID:23975875|PMID:25589632|PMID:28492532 621114 Ttn titin gene DOID:9884 muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:24033266|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822 621115 Olah oleoyl-ACP hydrolase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352519 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 621115 Olah oleoyl-ACP hydrolase gene DOID:0080600 COVID-19 ISO RGD:1352519 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621115 Olah oleoyl-ACP hydrolase gene DOID:630 genetic disease ISO RGD:1352519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621116 Taf9b TATA-box binding protein associated factor 9b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351331 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621116 Taf9b TATA-box binding protein associated factor 9b gene DOID:1059 intellectual disability ISO RGD:1351331 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Intellectual disability 621116 Taf9b TATA-box binding protein associated factor 9b gene DOID:12849 autistic disorder ISO RGD:1351331 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621116 Taf9b TATA-box binding protein associated factor 9b gene DOID:630 genetic disease ISO RGD:1351331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621117 Nlgn1 neuroligin 1 gene DOID:0060041 autism spectrum disorder ISS RGD:736454 D RGD:13592920 20200402 MouseDO 621117 Nlgn1 neuroligin 1 gene DOID:12849 autistic disorder ISO RGD:736453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 621117 Nlgn1 neuroligin 1 gene DOID:12849 autistic disorder ISO RGD:736453 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 20 PMID:28972980 621117 Nlgn1 neuroligin 1 gene DOID:1824 status epilepticus IEP D RGD:9831126|PMID:22539981 20150225 RGD 621117 Nlgn1 neuroligin 1 gene DOID:630 genetic disease ISO RGD:736453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621118 Nlgn2 neuroligin 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 621118 Nlgn2 neuroligin 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 621118 Nlgn2 neuroligin 2 gene DOID:1059 intellectual disability ISO RGD:732705 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 621118 Nlgn2 neuroligin 2 gene DOID:11446 sciatic neuropathy IEP D RGD:9831149|PMID:17492651 20150226 RGD mRNA:decreased expression:sciatic nerve 621118 Nlgn2 neuroligin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:732705 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 621118 Nlgn2 neuroligin 2 gene DOID:1824 status epilepticus IEP D RGD:9831126|PMID:22539981 20150225 RGD 621118 Nlgn2 neuroligin 2 gene DOID:2729 dyskeratosis congenita ISO RGD:732705 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 621118 Nlgn2 neuroligin 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 621118 Nlgn2 neuroligin 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732705 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 621118 Nlgn2 neuroligin 2 gene DOID:5419 schizophrenia ISS RGD:732706 D RGD:13592920 20190509 MouseDO OMIM:181500 621118 Nlgn2 neuroligin 2 gene DOID:630 genetic disease ISO RGD:732705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621118 Nlgn2 neuroligin 2 gene DOID:9002211 Hyperalgesia IMP D RGD:9831150|PMID:23891900 20150226 RGD 621119 Nlgn3 neuroligin 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 621119 Nlgn3 neuroligin 3 gene DOID:0060041 autism spectrum disorder IMP D RGD:126790492|PMID:28958035 20210423 RGD 621119 Nlgn3 neuroligin 3 gene DOID:0060041 autism spectrum disorder IMP D RGD:9831152|PMID:24773431 20150226 RGD 621119 Nlgn3 neuroligin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621119 Nlgn3 neuroligin 3 gene DOID:0060041 autism spectrum disorder ISS RGD:733572 D RGD:13592920 20190516 MouseDO 621119 Nlgn3 neuroligin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733571 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621119 Nlgn3 neuroligin 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 621119 Nlgn3 neuroligin 3 gene DOID:1059 intellectual disability ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 621119 Nlgn3 neuroligin 3 gene DOID:11446 sciatic neuropathy IEP D RGD:9831149|PMID:17492651 20150226 RGD mRNA:decreased expression:sciatic nerve 621119 Nlgn3 neuroligin 3 gene DOID:12849 autistic disorder ISO RGD:733571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12669065|PMID:18621663 621119 Nlgn3 neuroligin 3 gene DOID:12849 autistic disorder ISO RGD:733571 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621119 Nlgn3 neuroligin 3 gene DOID:12849 autistic disorder ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 1 | ClinVar Annotator: match by term: Autistic behavior PMID:12669065|PMID:15150161|PMID:15152050|PMID:21681106|PMID:25741868|PMID:30208311|PMID:31184401|PMID:35012288 621119 Nlgn3 neuroligin 3 gene DOID:12849 autistic disorder susceptibility ISO RGD:733571 D RGD:7240710 20190502 OMIM 621119 Nlgn3 neuroligin 3 gene DOID:1921 Klinefelter syndrome ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 621119 Nlgn3 neuroligin 3 gene DOID:630 genetic disease ISO RGD:733571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16508939|PMID:23849776|PMID:25741868|PMID:28492532 621119 Nlgn3 neuroligin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:733571 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 621119 Nlgn3 neuroligin 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733571 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:10283 prostate cancer ISO RGD:732061 D RGD:2293560|PMID:16648554 20080605 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:10534 stomach cancer ISO RGD:732061 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:11054 urinary bladder cancer IEP D RGD:2289144|PMID:16896691 20080811 RGD protein:increased expression:urinary bladder 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732061 D RGD:2299056|PMID:11971182 20080811 RGD DNA:amplification 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:11132 prostatic hypertrophy IEP D RGD:2289135|PMID:17962342 20080811 RGD protein:decreased expression:prostate gland 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:732061 D RGD:2293576|PMID:16440198 20080605 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1793 pancreatic cancer IEP D RGD:13452386|PMID:22477723 20171117 RGD protein:increased expression:islet of Langerhans, nucleus (rat) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:732061 D RGD:13452384|PMID:22761470 20171117 RGD protein:increased expression:islet of Langerhans (human) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732062 D RGD:13452385|PMID:11159909 20171117 RGD protein:increased expression:pancreas (mouse) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732062 D RGD:13452387|PMID:24531709 20171117 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1799 islet cell tumor ISO RGD:732061 D RGD:13452384|PMID:22761470 20180912 RGD protein:increased expression:pancreas, islet of Langerhans (human) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:1909 melanoma ISO RGD:732061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:2154 nephroblastoma disease_progression ISO RGD:732061 D RGD:2289153|PMID:15797629 20080605 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:2394 ovarian cancer ISO RGD:732061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732061 D RGD:2293580|PMID:15161057 20080605 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:2696 Leydig cell tumor ISO RGD:732062 D RGD:2293582|PMID:18310289 20080812 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:305 carcinoma ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3068 glioblastoma ISO RGD:732061 D RGD:13702089|PMID:23796897 20180717 RGD DNA:amplication 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3070 high grade glioma ISO RGD:732062 D RGD:13702091|PMID:21844184 20180717 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:732061 D RGD:13702090|PMID:23761023 20180717 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3369 Ewing sarcoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3382 liposarcoma ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20601955|PMID:23569312 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3459 breast carcinoma ISO RGD:732061 D RGD:2293583|PMID:9916925 20080605 RGD DNA:amplification 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732061 D RGD:13781899|PMID:29735403 20180813 RGD protein:increased expression:pancreas, islet of Langerhans (human) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732061 D RGD:13464277|PMID:9751261 20180102 RGD protein:increased expression:lung 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732061 D RGD:13464275|PMID:24959380 20180102 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732061 D RGD:13464276|PMID:24496383 20180102 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:732061 D RGD:13464277|PMID:9751261 20180102 RGD protein:increased expression:lung 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732061 D RGD:13792559|PMID:22509328 20180912 RGD human cells in a mouse model 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732061 D RGD:2293579|PMID:15991006 20080605 RGD protein:increased expression:kidney 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732061 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152998960|PMID:33841550 20220711 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:7240710 20190410 OMIM 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:732061 D RGD:13781946|PMID:29149451 20180814 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:8923 skin melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:732061 D RGD:2293574|PMID:18301453 20080605 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732061 D RGD:2296041|PMID:11358847 20080811 RGD protein:increased expression:testis 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2289284|PMID:16534847 20080604 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9002170 Experimental Neoplasms ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732061 D RGD:2299054|PMID:17692085 20080811 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732061 D RGD:2299057|PMID:11311493 20080811 RGD DNA:amplification 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:732061 D RGD:2293574|PMID:18301453 20080605 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2293581|PMID:14522882 20080605 RGD protein:increased expression:mammary gland 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:25221644 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:732062 D RGD:2293577|PMID:16413469 20080605 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732061 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31118792|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007480 Hyperoxia IEP D RGD:2289663|PMID:18082050 20080605 RGD mRNA:increased expression:lung 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007502 Brain Neoplasms ISO RGD:732061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:732061 D RGD:2299055|PMID:14648178 20080811 RGD protein:increased expression:endometrium 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732061 D RGD:2314611|PMID:18678431 20091120 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732061 D RGD:2314610|PMID:19695727 20091120 RGD DNA:polymorphism:intron:IVS4-40G>A (human) 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9538 multiple myeloma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:2314613|PMID:10319860 20091120 RGD 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISS RGD:732062 D RGD:13592920 20180518 MouseDO OMIM:222100 621120 Cdk4 cyclin-dependent kinase 4 gene DOID:9970 obesity susceptibility ISO RGD:732061 D RGD:2314609|PMID:19634152 20091120 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:0050902 medulloblastoma ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:23138228 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:735400 D RGD:13702096|PMID:16314645 20180717 RGD 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:0060224 atrial fibrillation ISO RGD:735400 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:7240710 20170405 OMIM 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:8554872 20170404 ClinVar ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive PMID:23918663 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:13241 Behcet's disease ISO RGD:735400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Behcet disease 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:1790 malignant mesothelioma ISO RGD:735400 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:2355 anemia ISO RGD:735400 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28255017 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3068 glioblastoma ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20534551 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3068 glioblastoma severity ISO RGD:735400 D RGD:13702095|PMID:10884881 20180717 RGD 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3070 high grade glioma ISO RGD:735400 D RGD:13702094|PMID:9102208 20180717 RGD DNA:amplification: 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3070 high grade glioma severity ISO RGD:735400 D RGD:13702093|PMID:22736304 20180717 RGD 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:735400 D RGD:13782187|PMID:24389175 20180827 RGD human cells in a mouse model 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735400 D RGD:13464321|PMID:27874949 20180103 RGD 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735400 D RGD:13464324|PMID:23591808 20180103 RGD 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:3910 lung adenocarcinoma ISO RGD:735400 D RGD:13464325|PMID:10574260 20180103 RGD protein:increased expression:lung 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:735400 D RGD:13782144|PMID:25050737 20180822 RGD human cells in a mouse model 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735400 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735400 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:630 genetic disease ISO RGD:735400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794853 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:735400 D RGD:13781946|PMID:29149451 20180814 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9001341 Chloracne ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9004814 Chromosome Aberrations ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:735400 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9007096 Stroke ISO RGD:735400 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 621121 Cdk6 cyclin-dependent kinase 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735400 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 621122 Gorasp1 golgi reassembly stacking protein 1 gene DOID:630 genetic disease ISO RGD:1348402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621124 Cdk7 cyclin-dependent kinase 7 gene DOID:10652 Alzheimer's disease ISO RGD:734279 D RGD:10059352|PMID:11124424 20150813 RGD protein:increased expression:neuron: 621124 Cdk7 cyclin-dependent kinase 7 gene DOID:630 genetic disease ISO RGD:734279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621124 Cdk7 cyclin-dependent kinase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734279 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621125 Sardh sarcosine dehydrogenase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 621125 Sardh sarcosine dehydrogenase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:735740 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:0081097 Rafiq syndrome ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:7240710 20130221 OMIM 621125 Sardh sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of PMID:22825317|PMID:25741868|PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:735740 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:3652 Leigh disease ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 621125 Sardh sarcosine dehydrogenase gene DOID:630 genetic disease ISO RGD:735740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621125 Sardh sarcosine dehydrogenase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735740 D RGD:152995286|PMID:30901224 20220614 RGD mRNA:altered expression:liver tumor (human) 621125 Sardh sarcosine dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735740 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 621126 Tob1 transducer of ErbB-2.1 gene DOID:289 endometriosis ISO RGD:1352967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 621126 Tob1 transducer of ErbB-2.1 gene DOID:630 genetic disease ISO RGD:1352967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621126 Tob1 transducer of ErbB-2.1 gene DOID:9001341 Chloracne ISO RGD:1352967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 621126 Tob1 transducer of ErbB-2.1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1352967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12756225 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:1059 intellectual disability ISO RGD:736150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:2746 glycogen storage disease V ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:630 genetic disease ISO RGD:736150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 621127 Dpp3 dipeptidylpeptidase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 621129 Olig1 oligodendrocyte transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 621129 Olig1 oligodendrocyte transcription factor 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1350271 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 621129 Olig1 oligodendrocyte transcription factor 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 621129 Olig1 oligodendrocyte transcription factor 1 gene DOID:630 genetic disease ISO RGD:1350271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621129 Olig1 oligodendrocyte transcription factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1552169 D RGD:40902822|PMID:24941845 20201211 RGD 621129 Olig1 oligodendrocyte transcription factor 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1350271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 621130 Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621130 Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1344148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 621130 Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1344148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621130 Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 gene DOID:9004657 Weight Gain ISO RGD:1344148 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621132 Vax1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:7240710 20140911 OMIM 621132 Vax1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:22095910|PMID:28492532 621132 Vax1 ventral anterior homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1351722 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 621132 Vax1 ventral anterior homeobox 1 gene DOID:630 genetic disease ISO RGD:1351722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621133 Vax2 ventral anterior homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731657 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 621133 Vax2 ventral anterior homeobox 2 gene DOID:543 dystonia ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621133 Vax2 ventral anterior homeobox 2 gene DOID:630 genetic disease ISO RGD:731657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621133 Vax2 ventral anterior homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621134 Ralbp1 ralA binding protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737281 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 621134 Ralbp1 ralA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 621134 Ralbp1 ralA binding protein 1 gene DOID:10629 microphthalmia ISS RGD:732627 D RGD:13592920 20180518 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 621134 Ralbp1 ralA binding protein 1 gene DOID:10763 hypertension ISO RGD:737281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23821548 621134 Ralbp1 ralA binding protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:737281 D RGD:2324917|PMID:17606711 20100514 RGD mRNA, protein:increased expression:urinary bladder 621134 Ralbp1 ralA binding protein 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737281 D RGD:13792559|PMID:22509328 20190313 RGD human cells in a mouse model 621134 Ralbp1 ralA binding protein 1 gene DOID:543 dystonia ISO RGD:737281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 621134 Ralbp1 ralA binding protein 1 gene DOID:630 genetic disease ISO RGD:737281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621134 Ralbp1 ralA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621134 Ralbp1 ralA binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621135 Pdcl phosducin like gene DOID:630 genetic disease ISO RGD:735514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621136 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347532 D RGD:13838662|PMID:22606234 20190108 RGD protein:decreased expression:heart: 621136 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity IEP D RGD:13838665|PMID:23096411 20190108 RGD 621136 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:1347532 D RGD:13838665|PMID:23096411 20190108 RGD 621136 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma treatment ISO RGD:732484 D RGD:13838664|PMID:27416955 20190108 RGD 621136 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:630 genetic disease ISO RGD:1347532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621136 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732484 D RGD:13838662|PMID:22606234 20190108 RGD 621137 Rnpep arginyl aminopeptidase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 621137 Rnpep arginyl aminopeptidase gene DOID:10763 hypertension IEP D RGD:2325942|PMID:9660082 20100615 RGD protein:increased expression:adrenal gland, neurohypophysis 621137 Rnpep arginyl aminopeptidase gene DOID:10763 hypertension IMP D RGD:2325950|PMID:3001599 20100615 RGD 621137 Rnpep arginyl aminopeptidase gene DOID:1540 parathyroid carcinoma ISO RGD:733030 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621137 Rnpep arginyl aminopeptidase gene DOID:630 genetic disease ISO RGD:733030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621137 Rnpep arginyl aminopeptidase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 621137 Rnpep arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1582109|PMID:16619500 20100615 RGD protein:increased expression:serum 621137 Rnpep arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733030 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 621137 Rnpep arginyl aminopeptidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733030 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621138 Dao D-amino-acid oxidase gene DOID:12849 autistic disorder ISO RGD:1350103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17629951 621138 Dao D-amino-acid oxidase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350103 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 621138 Dao D-amino-acid oxidase gene DOID:5419 schizophrenia ISO RGD:1350103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 621138 Dao D-amino-acid oxidase gene DOID:5419 schizophrenia susceptibility ISO RGD:1350103 D RGD:1358627|PMID:14966479 20200803 RGD DNA:SNPs: : 621138 Dao D-amino-acid oxidase gene DOID:630 genetic disease ISO RGD:1350103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621138 Dao D-amino-acid oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:7240710 20130221 OMIM 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24828792|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29942493|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30311386|PMID:30733538|PMID:32608139|PMID:9463315 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:10003 sensorineural hearing loss ISO RGD:1346772 D RGD:1600603|PMID:11687798 20070319 RGD Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:445 Bartter disease ISO RGD:1346772 D RGD:1600603|PMID:11687798 20070319 RGD Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:445 Bartter disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30733538|PMID:32608139|PMID:9463315 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:630 genetic disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:9001996 Sensorineural Deafness with Mild Renal Dysfunction ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction PMID:11687798|PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:9004538 Hearing Loss ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11687798|PMID:19646679|PMID:25741868|PMID:28492532|PMID:30311386 621139 Bsnd barttin CLCNK type accessory subunit beta gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:1346772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:28492532|PMID:30269829 621140 G3bp1 G3BP stress granule assembly factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621140 G3bp1 G3BP stress granule assembly factor 1 gene DOID:3069 malignant astrocytoma ISO RGD:1604397 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 621140 G3bp1 G3BP stress granule assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621140 G3bp1 G3BP stress granule assembly factor 1 gene DOID:9000918 Disease Progression ISO RGD:1604397 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 621140 G3bp1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 621140 G3bp1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:25741868|PMID:26467025|PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:7240710 20131030 OMIM 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:9536098 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22073419|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:31949730|PMID:9536098 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1343905 D RGD:8554872 20180124 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15911806|PMID:16534117|PMID:16636245|PMID:18521183 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:1580829|PMID:16301342 19990101 RGD 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:14398833|PMID:27798271 20190503 RGD 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:327 syringomyelia ISO RGD:1343905 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Morvan disease PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:1580828|PMID:11498583 19990101 RGD 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:2298790|PMID:18547946 20080723 RGD 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:25741868|PMID:26467025|PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:557 kidney disease ISO RGD:1343905 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:630 genetic disease ISO RGD:1343905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15060842|PMID:15911806|PMID:17576681|PMID:21089229|PMID:22910560|PMID:23149595|PMID:25741868|PMID:27671536|PMID:28492532|PMID:31949730|PMID:9536098 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:25741868|PMID:26467025|PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:7240710 20141015 OMIM 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:10869238|PMID:11498583|PMID:16199547|PMID:17344846|PMID:18580052|PMID:21530900|PMID:22073419|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25741868|PMID:26467025|PMID:28492532 621141 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1343905 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 621142 Tsga10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:7240710 20190315 OMIM 621142 Tsga10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 26 PMID:28905369 621142 Tsga10 testis specific 10 gene DOID:630 genetic disease ISO RGD:731470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621143 Ssrp1 structure specific recognition protein 1 gene DOID:1059 intellectual disability ISO RGD:734366 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621143 Ssrp1 structure specific recognition protein 1 gene DOID:630 genetic disease ISO RGD:734366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621144 Rab8a RAB8A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621144 Rab8a RAB8A, member RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1354512 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 621145 Trip10 thyroid hormone receptor interactor 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:732056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 621145 Trip10 thyroid hormone receptor interactor 10 gene DOID:12858 Huntington's disease ISO RGD:732056 D RGD:11535137|PMID:12604778 20160921 RGD protein:increased expression:striatum 621145 Trip10 thyroid hormone receptor interactor 10 gene DOID:630 genetic disease ISO RGD:732056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621145 Trip10 thyroid hormone receptor interactor 10 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:11535148|PMID:26097534 20160921 RGD associated with Diabetes Mellitus, Experimental 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606826 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0080690 RASopathy ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1606826 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606826 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:7240710 20200826 OMIM 621146 Hyou1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality PMID:25741868|PMID:27913302|PMID:28492532 621146 Hyou1 hypoxia up-regulated 1 gene DOID:5419 schizophrenia ISO RGD:1606826 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621146 Hyou1 hypoxia up-regulated 1 gene DOID:630 genetic disease ISO RGD:1606826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621146 Hyou1 hypoxia up-regulated 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606826 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621146 Hyou1 hypoxia up-regulated 1 gene DOID:9007661 Dwarfism ISO RGD:1606826 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:0050686 organ system cancer ISO RGD:1352690 D RGD:152998994|PMID:25158664 20220715 RGD DNA:SNP:CDS:rs4141134 (human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:1205 allergic disease ISO RGD:1352690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1352690 D RGD:152998976|PMID:30895747 20220714 RGD DNA:SNP:CDS:multiple (human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:8662884|PMID:18315432 20140626 RGD associated with Periodontitis; 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:8662885|PMID:24818754 20140626 RGD DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1352690 D RGD:152998982|PMID:31921619 20220714 RGD mRNA:altered expression:lung (human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1352690 D RGD:152998998|PMID:29942094 20220715 RGD mRNA:increased expression:lung (human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:409 liver disease ISO RGD:1352690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1352690 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:5041 esophageal cancer susceptibility ISO RGD:1352690 D RGD:152998961|PMID:31744444 20220712 RGD DNA:SNP:cds:rs11674595|rs2072472 (human) 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:630 genetic disease ISO RGD:1352690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1352690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20062062 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:1352690 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:9000307 Presbycusis ISO RGD:731689 D RGD:8662870|PMID:22652460 20140626 RGD 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1352690 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 621147 Il1r2 interleukin 1 receptor type 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352690 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 621148 Sra1 steroid receptor RNA activator 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353576 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 621148 Sra1 steroid receptor RNA activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621148 Sra1 steroid receptor RNA activator 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353576 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621148 Sra1 steroid receptor RNA activator 1 gene DOID:3614 Kallmann syndrome ISO RGD:1353576 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 621148 Sra1 steroid receptor RNA activator 1 gene DOID:6000 congestive heart failure severity ISO RGD:1353576 D RGD:243048444|PMID:27317124 20230331 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) 621148 Sra1 steroid receptor RNA activator 1 gene DOID:630 genetic disease ISO RGD:1353576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621148 Sra1 steroid receptor RNA activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353576 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621148 Sra1 steroid receptor RNA activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733281 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:630 genetic disease ISO RGD:733281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733281 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733281 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:14608356 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:733281 D RGD:7240710 20190329 OMIM 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:820 myocarditis ISO RGD:733281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733281 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:9004538 Hearing Loss ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:27023905|PMID:28492532 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:9006549 Enterovirus Infections ISO RGD:733281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 621149 Slc22a4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621150 Evl Enah/Vasp-like gene DOID:630 genetic disease ISO RGD:1605079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621150 Evl Enah/Vasp-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 621150 Evl Enah/Vasp-like gene DOID:9008939 Breast Neoplasms ISO RGD:1605079 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 621151 Clstn2 calsyntenin 2 gene DOID:630 genetic disease ISO RGD:1350123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621151 Clstn2 calsyntenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350123 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 621153 Clstn3 calsyntenin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732033 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 621153 Clstn3 calsyntenin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 621153 Clstn3 calsyntenin 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:732033 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 621153 Clstn3 calsyntenin 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:732033 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 621153 Clstn3 calsyntenin 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:732033 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 621153 Clstn3 calsyntenin 3 gene DOID:0111621 Temtamy syndrome ISO RGD:732033 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 621153 Clstn3 calsyntenin 3 gene DOID:630 genetic disease ISO RGD:732033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621153 Clstn3 calsyntenin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732033 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 621155 Nmur2 neuromedin U receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621155 Nmur2 neuromedin U receptor 2 gene DOID:630 genetic disease ISO RGD:1343070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621155 Nmur2 neuromedin U receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621156 Rpl36al1 ribosomal protein L36A like 1 gene DOID:630 genetic disease ISO RGD:733562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621156 Rpl36al1 ribosomal protein L36A like 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621156 Rpl36al1 ribosomal protein L36A like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621157 Txn1 thioredoxin 1 gene DOID:0050700 cardiomyopathy ISO RGD:732442 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12221060 621157 Txn1 thioredoxin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 621157 Txn1 thioredoxin 1 gene DOID:10908 hydrocephalus ISO RGD:732441 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:31310794 621157 Txn1 thioredoxin 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732441 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20812253 621157 Txn1 thioredoxin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:732441 D RGD:1580782|PMID:12870673 19990101 RGD 621157 Txn1 thioredoxin 1 gene DOID:1686 glaucoma IEP D RGD:2306193|PMID:18701913 20090324 RGD protein:decreased expression:retinal ganglion cell 621157 Txn1 thioredoxin 1 gene DOID:1790 malignant mesothelioma ISO RGD:732441 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 621157 Txn1 thioredoxin 1 gene DOID:2773 contact dermatitis ISO RGD:732441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 621157 Txn1 thioredoxin 1 gene DOID:409 liver disease ISO RGD:732441 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16996028 621157 Txn1 thioredoxin 1 gene DOID:5844 myocardial infarction ISO RGD:732441 D RGD:1580785|PMID:14677813 19990101 RGD 621157 Txn1 thioredoxin 1 gene DOID:820 myocarditis ISO RGD:732441 D RGD:1580782|PMID:12870673 19990101 RGD 621157 Txn1 thioredoxin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:732441 D RGD:1580784|PMID:15749180 19990101 RGD 621157 Txn1 thioredoxin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732441 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30396169 621157 Txn1 thioredoxin 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:732441 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 621157 Txn1 thioredoxin 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:5685030|PMID:19128823 20090324 RGD mRNA:decreased expression:cerebral cortex 621157 Txn1 thioredoxin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 621157 Txn1 thioredoxin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:732441 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16298680 621157 Txn1 thioredoxin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5133714|PMID:20571744 20110627 RGD mRNA:altered expression:myocardium (rat) 621157 Txn1 thioredoxin 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:732441 D RGD:11554173 20200114 CTD CTD Direct Evidence: therapeutic PMID:31310794 621157 Txn1 thioredoxin 1 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:732441 D RGD:1580783|PMID:15694802 19990101 RGD 621157 Txn1 thioredoxin 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732442 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11462148 621157 Txn1 thioredoxin 1 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2306159|PMID:18045550 20090325 RGD mRNA:decreased expression:heart 621157 Txn1 thioredoxin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732441 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30396169 621157 Txn1 thioredoxin 1 gene DOID:9452 fatty liver disease IEP D RGD:2306156|PMID:18578693 20090324 RGD 621158 Clec10a C-type lectin domain containing 10A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603407 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 621158 Clec10a C-type lectin domain containing 10A gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603407 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 621158 Clec10a C-type lectin domain containing 10A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 621158 Clec10a C-type lectin domain containing 10A gene DOID:12177 common variable immunodeficiency ISO RGD:1603407 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 621158 Clec10a C-type lectin domain containing 10A gene DOID:2729 dyskeratosis congenita ISO RGD:1603407 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 621158 Clec10a C-type lectin domain containing 10A gene DOID:630 genetic disease ISO RGD:1603407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621158 Clec10a C-type lectin domain containing 10A gene DOID:9007102 Myocardial Ischemia ISO RGD:1603407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344540 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0050486 exanthem ISO RGD:1344540 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:16096327 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1344540 D RGD:10450573|PMID:12184521 20160118 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1344540 D RGD:6906895|PMID:22146561 20121019 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0060496 respiratory allergy ISO RGD:733437 D RGD:4143222|PMID:12663678 20100920 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1344540 D RGD:8549793|PMID:15258192 20140407 RGD human protein in a mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080162 lupus nephritis resistance ISO RGD:1344540 D RGD:6907068|PMID:20538031 20121025 RGD associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080178 mucositis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20844880 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1344540 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:1344540 D RGD:14401582|PMID:22027586 20190513 RGD associated with morbid obesity, protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080600 COVID-19 ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1344540 D RGD:6907128|PMID:17258699 20121030 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1344540 D RGD:8551826|PMID:7736749 20121109 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:1344540 D RGD:7387296|PMID:12186498 20140408 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344540 D RGD:8549808|PMID:19702713 20140408 RGD DNA:snp:exon:11100 C>T (rs315952) (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:0081267 graft-versus-host disease ISO RGD:1344540 D RGD:6909143|PMID:8049450 20121109 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10126 keratoconus susceptibility ISO RGD:1344540 D RGD:8549797|PMID:23462747 20140407 RGD DNA:snp:intron:c.214+242C>T (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10140 dry eye syndrome ISO RGD:1344540 D RGD:8551707|PMID:20508732 20140410 RGD protein:increased expression:tears (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10247 pleurisy ISO RGD:1344540 D RGD:4143233|PMID:8491511 20100920 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10325 silicosis susceptibility ISO RGD:1344540 D RGD:4142816|PMID:11264025 20100915 RGD DNA:SNP (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10325 silicosis treatment IDA D RGD:8551847|PMID:23842733 20140415 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10327 anthracosis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:4143183|PMID:10358201 20100916 RGD protein:increased expression:nasal mucus 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:4143207|PMID:18279051 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10533 viral pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10534 stomach cancer ISO RGD:1344540 D RGD:7240710 20220209 OMIM 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10591 pre-eclampsia ISO RGD:1344540 D RGD:6906962|PMID:21126355 20121023 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:106 pleural tuberculosis ISO RGD:1344540 D RGD:4143226|PMID:10377182 20100920 RGD DNA:repeat (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10763 hypertension IDA D RGD:1626668|PMID:11585563 20070816 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:10763 hypertension susceptibility ISO RGD:1344540 D RGD:1626667|PMID:11840488 20070816 RGD DNA:polymorphisms 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:6907081|PMID:19489682 20121029 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:6907367|PMID:16698387 20121031 RGD DNA:repeats:intron:IVS2+914_1000dup multiple (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1344540 D RGD:6909151|PMID:9186886 20121112 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11204 allergic conjunctivitis treatment ISO RGD:1344540 D RGD:8549802|PMID:10549671 20140407 RGD human protein in a mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:1344540 D RGD:8549790|PMID:10359324 20140407 RGD human protein in mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:733437 D RGD:8549796|PMID:12202509 20140407 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome IDA D RGD:6909177|PMID:22810359 20121114 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344540 D RGD:4143190|PMID:8810593 20100916 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:1344540 D RGD:4143191|PMID:8686976 20100916 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11400 pyelonephritis ISO RGD:1344540 D RGD:6907372|PMID:8640042 20121101 RGD protein:increased expression:urine (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11446 sciatic neuropathy ISO RGD:1344540 D RGD:7175064|PMID:12574433 20121126 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11476 osteoporosis treatment ISO RGD:1344540 D RGD:8551834|PMID:8182127 20140414 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11573 listeriosis susceptibility ISO RGD:1344540 D RGD:11522760|PMID:8855299 20160808 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344540 D RGD:4143172|PMID:15539764 20100915 RGD protein:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:1344540 D RGD:12910846|PMID:22882323 20170627 RGD associated with Premature Birth;DNA:polymorphism:: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11656 cicatricial pemphigoid ISO RGD:1344540 D RGD:8549794|PMID:11448121 20140407 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:7240710 20130221 OMIM 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4 PMID:25741868|PMID:28492532 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1184 nephrotic syndrome ISO RGD:1344540 D RGD:6907374|PMID:14758530 20121101 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:11981 morbid obesity ISO RGD:1344540 D RGD:1626666|PMID:11889184 20070816 RGD protein:increased expression:serum 621159 Il1rn interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:6909134|PMID:9802632 20121109 RGD protein:increased concentration:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:6909171|PMID:12373296 20121113 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:12849 autistic disorder ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11803234 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1287 cardiovascular system disease ISO RGD:1344540 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 621159 Il1rn interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:8549786|PMID:9646842 20140407 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:8549807|PMID:11527941 20140408 RGD protein:increased expression:conjunctiva (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1344540 D RGD:8551712|PMID:7637259 20140410 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:13189 gout ISO RGD:1344540 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:18403674 621159 Il1rn interleukin 1 receptor antagonist gene DOID:13241 Behcet's disease ISO RGD:1344540 D RGD:7401213|PMID:14600787 20131107 RGD protein:increased expression:serum 621159 Il1rn interleukin 1 receptor antagonist gene DOID:13250 diarrhea ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20844880 621159 Il1rn interleukin 1 receptor antagonist gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344540 D RGD:4143198|PMID:8239179 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1407 anterior uveitis ISO RGD:1344540 D RGD:8551704|PMID:19693263 20140410 RGD human gene in rabbit model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:1344540 D RGD:11522756|PMID:23014359 20160808 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344540 D RGD:8551736|PMID:15516267 20140410 RGD human gene in a mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:14654 prostatitis ISO RGD:733437 D RGD:6906929|PMID:21681776 20121022 RGD mRNA:increased expression:prostate gland (mouse) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:4143175|PMID:12547728 20100915 RGD protein:decreased expression:blood, neutrophil 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:4143181|PMID:10515411 20100915 RGD protein:increased expression:sputum 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1532 pleural disease ISO RGD:1344540 D RGD:4143201|PMID:8325116 20100917 RGD protein:increased expression:alveolar macrophage 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1596 depressive disorder ISO RGD:1344540 D RGD:7174694|PMID:22427156 20121115 RGD associated with Status Epilepticus; rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:178 vascular disease ISO RGD:1344540 D RGD:6906924|PMID:22081301 20121022 RGD mouse model treated with human protein; associated with Diabetes Mellitus, Type 2 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1824 status epilepticus ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19010416 621159 Il1rn interleukin 1 receptor antagonist gene DOID:1909 melanoma ISO RGD:1344540 D RGD:6909140|PMID:8168095 20121109 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia IDA D RGD:1626674|PMID:15837124 20070816 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:1344540 D RGD:8551852|PMID:20412072 20140415 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2316 brain ischemia ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9236716 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2377 multiple sclerosis ISO RGD:1344540 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2799 bronchiolitis obliterans ISO RGD:1344540 D RGD:4143176|PMID:11889437 20100915 RGD protein:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:4142802|PMID:18763028 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:4143209|PMID:16724092 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:4143224|PMID:11027520 20100920 RGD DNA, protein:repeat, decreased expression (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma severity ISO RGD:1344540 D RGD:4143225|PMID:10843772 20100920 RGD protein:increased expression:plasma 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:4142864|PMID:18926055 20100914 RGD DNA:polymorphism:intron (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:4143163|PMID:16409203 20100915 RGD DNA:SNPs: :rs447713, rs3087271 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:4143208|PMID:17107994 20100917 RGD DNA:SNP: :rs2234678 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:4143216|PMID:15020290 20100920 RGD DNA:SNPs: :multiple (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:285 hairy cell leukemia treatment ISO RGD:1344540 D RGD:11522762|PMID:9613675 20160808 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:289 endometriosis ISO RGD:1344540 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Endometriosis 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:1344540 D RGD:6906885|PMID:22241891 20121018 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:733437 D RGD:6906960|PMID:21304992 20121023 RGD mRNA:increased expression:kidney (mouse) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1344540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:12837270|PMID:16519819|PMID:19729864|PMID:20842532|PMID:21279638|PMID:22032624|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:28236224|PMID:28492532 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2942 bronchiolitis ISO RGD:1344540 D RGD:4143192|PMID:8608647 20100916 RGD protein:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:4143174|PMID:14619382 20100915 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:4143180|PMID:10543265 20100915 RGD protein:increased expression:lung, serum 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis severity ISO RGD:1344540 D RGD:4143179|PMID:10631206 20100915 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:6906961|PMID:10916103 20121023 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:6907414|PMID:16209246 20121102 RGD protein:decreased expression:serum, urine (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:6909131|PMID:10079261 20121108 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:6909132|PMID:9844059 20121108 RGD response to immunoglobulin therapy 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:6909150|PMID:9370186 20121112 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:733437 D RGD:6907427|PMID:10566895 20121105 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1344540 D RGD:6907082|PMID:19280228 20121029 RGD DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:6907360|PMID:16763508 20121031 RGD associated with Sepsis 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:6907369|PMID:16259926 20121031 RGD associated with Asphyxia; rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:733437 D RGD:6907375|PMID:14610321 20121101 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:4142853|PMID:20404807 20100914 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:4143199|PMID:8342915 20100917 RGD protein:increased expression:alveolar macrophage 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344540 D RGD:4142861|PMID:19291375 20100914 RGD protein:decreased expression:plasma 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344540 D RGD:4142868|PMID:18364273 20100914 RGD DNA:polymorphism (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1344540 D RGD:4142866|PMID:18579366 20100914 RGD DNA:polymorphism:intron (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344540 D RGD:8551708|PMID:7790404 20140410 RGD human gene in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:37 skin disease ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7706905|PMID:16835338 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:18403674 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:4143194|PMID:7767546 20100916 RGD protein:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:1344540 D RGD:4142874|PMID:17056243 20100914 RGD DNA:polymorphism (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:1344540 D RGD:4143177|PMID:10934117 20100915 RGD DNA:polymorphism (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3904 bronchus carcinoma ISO RGD:1344540 D RGD:4143231|PMID:8030748 20100920 RGD protein:increased expression, alternative forms:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1344540 D RGD:4143167|PMID:16126303 20100915 RGD DNA:polymorphism (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4195 hyperglycemia ISO RGD:1344540 D RGD:6907426|PMID:12679866 20121105 RGD associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16096327 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome susceptibility ISO RGD:1344540 D RGD:11522758|PMID:16096327 20160808 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4450 renal cell carcinoma ISO RGD:1344540 D RGD:6907413|PMID:17031403 20121102 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:4143215|PMID:15178892 20100920 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:4143227|PMID:10224452 20100920 RGD associated with Hypersensitivity 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4483 rhinitis susceptibility ISO RGD:1344540 D RGD:4142859|PMID:14533660 20100920 RGD associated with Hypersensitivity;DNA:repeat:intron (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:4780 anti-basement membrane glomerulonephritis IDA D RGD:4145614|PMID:20071465 20121026 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:1344540 D RGD:6906925|PMID:21975862 20121022 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:733437 D RGD:6909121|PMID:11123344 20121107 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia IEP D RGD:8551846|PMID:1385928 20140415 RGD mRNA:increased expression:bronchioalveolar lavage fluid, neutrophil (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:4143213|PMID:16369129 20100920 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:733437 D RGD:4142871|PMID:17569781 20100914 RGD mRNA:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia disease_progression ISO RGD:1344540 D RGD:4142865|PMID:18838927 20100914 RGD DNA:polymorphism:intron (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia no_association ISO RGD:1344540 D RGD:4143204|PMID:19900796 20100917 RGD DNA:polymorphism (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:557 kidney disease ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9370186 621159 Il1rn interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9370186 621159 Il1rn interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:6909118|PMID:12138282 20121107 RGD associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:5844 myocardial infarction ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18474815|PMID:19005744 621159 Il1rn interleukin 1 receptor antagonist gene DOID:630 genetic disease ISO RGD:1344540 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621159 Il1rn interleukin 1 receptor antagonist gene DOID:631 fibromyalgia severity ISO RGD:1344540 D RGD:8549787|PMID:10341365 20140407 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10886238 621159 Il1rn interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:8549795|PMID:18251582 20140407 RGD protein:increased expression:skeletal muscle (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:6432 pulmonary hypertension ISO RGD:1344540 D RGD:4143197|PMID:7946395 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:6713 cerebrovascular disease ISO RGD:1344540 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 621159 Il1rn interleukin 1 receptor antagonist gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621159 Il1rn interleukin 1 receptor antagonist gene DOID:684 hepatocellular carcinoma ISO RGD:1344540 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621159 Il1rn interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:7706905|PMID:19192274 621159 Il1rn interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:7174696|PMID:19447938 20121115 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:733437 D RGD:8549810|PMID:10637275 20140408 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:6907070|PMID:20551628 20121025 RGD DNA:polymorphism:intron:IVS6+327A>G rs452204 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:6907105|PMID:12837270 20121031 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:6907368|PMID:16556139 20121031 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease disease_progression ISO RGD:1344540 D RGD:6907131|PMID:17224277 20121025 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease susceptibility ISO RGD:1344540 D RGD:6907370|PMID:16766392 20121031 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease ISO RGD:1344540 D RGD:6906880|PMID:23024164 20121018 RGD protein:increased expression:plasma (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease susceptibility ISO RGD:1344540 D RGD:6906881|PMID:22795294 20121018 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:824 periodontitis ISO RGD:1344540 D RGD:6906881|PMID:22795294 20121025 RGD mRNA:increased expression:gingiva 621159 Il1rn interleukin 1 receptor antagonist gene DOID:824 periodontitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:22795294|REF_RGD_ID:6906881 621159 Il1rn interleukin 1 receptor antagonist gene DOID:8552 chronic myeloid leukemia severity ISO RGD:1344540 D RGD:10450889|PMID:7949186 20160122 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:8577 ulcerative colitis ISO RGD:1344540 D RGD:6909136|PMID:8119534 20121109 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:874 bacterial pneumonia ISO RGD:733437 D RGD:4143205|PMID:18596024 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:874 bacterial pneumonia ISO RGD:733437 D RGD:4143206|PMID:18322242 20100917 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1344540 D RGD:11528541|PMID:20626741 20160811 RGD DNA:repeats:: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25665855 621159 Il1rn interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:7175060|PMID:10751560 20121121 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1344540 D RGD:6909172|PMID:9090470 20121113 RGD protein:decreased expression:urine (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries IDA D RGD:1626673|PMID:16038625 20070816 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:1344540 D RGD:6907102|PMID:17964877 20121029 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000099 Experimental Colitis treatment ISO RGD:1344540 D RGD:8551835|PMID:8978354 20140414 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1344540 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000325 Abscess severity ISO RGD:1344540 D RGD:8551794|PMID:8872492 20140411 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344540 D RGD:7051590|PMID:22679224 20121115 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000641 Pain ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15317861 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14754758 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:4143217|PMID:14754758 20100920 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000784 Fibrosis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7637259 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:6909178|PMID:22782699 20121114 RGD mRNA:increased expression:lung (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000972 Fever IDA D RGD:1626671|PMID:16455768 20070816 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:1344540 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:16096327 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9000998 Brain Injuries ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25665855 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001020 Eye Manifestations ISO RGD:1344540 D RGD:8549789|PMID:9152064 20140407 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001039 Leukocytosis ISO RGD:1344540 D RGD:11522759|PMID:10085034 20160808 RGD associated with Meningitis, Listeria; 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001109 Anorexia IEP D RGD:8551744|PMID:9688694 20140410 RGD associated with Adenocarcinoma;mRNA:increased expression:cerebral cortex, hypothalamus (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25392278 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001142 Drug-Induced Agranulocytosis ISO RGD:1344540 D RGD:11528539|PMID:8698137 20160811 RGD associated with Leukemia;protein:decreased expression:serum: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001164 Proctocolitis ISO RGD:1344540 D RGD:6909134|PMID:9802632 20121109 RGD protein:increased concentration:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001310 Tobacco Use Disorder treatment ISO RGD:1344540 D RGD:8549806|PMID:10792346 20140408 RGD associated with Graves Ophthalmopathy 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001462 Meibomian Gland Dysfunction ISO RGD:1344540 D RGD:8551707|PMID:20508732 20140820 RGD protein:increased expression:tears (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza ISO RGD:1344540 D RGD:4143228|PMID:9439800 20100920 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza disease_progression ISO RGD:1344540 D RGD:4143203|PMID:20840779 20100917 RGD protein:increased expression:serum 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9001831 Lichen Sclerosus et Atrophicus severity ISO RGD:1344540 D RGD:6909135|PMID:7927338 20121109 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344540 D RGD:6909138|PMID:9000676 20121109 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury treatment IMP D RGD:8551710|PMID:12451245 20140410 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1344540 D RGD:6909120|PMID:17286233 20121107 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1344540 D RGD:6907371|PMID:16174285 20121101 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia IDA D RGD:6909165|PMID:23092240 20121113 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8864563|PMID:15317861|PMID:17174526|PMID:20937348 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:6909175|PMID:22933159 20121114 RGD associated with Arthritis, Experimental; rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia severity IMP D RGD:8549800|PMID:10903985 20140407 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia treatment ISO RGD:1344540 D RGD:7401210|PMID:17959986 20131107 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1344540 D RGD:11522755|PMID:10870116 20160808 RGD protein:decreased expression:plasma: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16106254|PMID:16284379 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:733437 D RGD:8551728|PMID:15795329 20140410 RGD mouse gene in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis IEP D RGD:8551741|PMID:10921508 20140410 RGD mRNA:increased expression:popliteal lymph node (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:1626677|PMID:15270736 20070816 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:6907376|PMID:23006786 20121101 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:733437 D RGD:8549801|PMID:22267332 20140407 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1344540 D RGD:8551745|PMID:12727108 20140410 RGD human gene in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:6997504|PMID:22707991 20121115 RGD mRNA:increased expression:striatum (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1344540 D RGD:8551833|PMID:14753487 20140414 RGD human gene in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1344540 D RGD:8551836|PMID:7593560 20140414 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002847 Serositis susceptibility ISO RGD:1344540 D RGD:5508454|PMID:17596285 20121029 RGD associated with Lupus Erythematosus, Systemic; DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:4143178|PMID:10670873 20100915 RGD associated with Wounds and Injuries;protein:increased expression:plasma 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:6907089|PMID:19241361 20121029 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9002928 Colonic Neoplasms ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9003223 Corneal Graft Rejection ISO RGD:1344540 D RGD:9684950|PMID:23723965 20141210 RGD human gene in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9003311 Urinary Calculi susceptibility ISO RGD:1344540 D RGD:6907399|PMID:18186699 20121102 RGD DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 IL1RN*3 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1344540 D RGD:11528540|PMID:17413037 20160811 RGD DNA:haplotype::rs2232354(human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004283 Transplant Rejection treatment ISO RGD:1344540 D RGD:8549799|PMID:9175817 20140407 RGD cornea transplant; human protein in a mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004462 Atrophy ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7637259 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis IEP D RGD:7175061|PMID:10048466 20121121 RGD mRNA:increased expression:pituitary gland (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:1344540 D RGD:6909139|PMID:8196140 20121109 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:733437 D RGD:4142852|PMID:20454520 20100914 RGD mRNA, protein:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis disease_progression ISO RGD:1344540 D RGD:11528543|PMID:11876758 20160812 RGD DNA:repeats: : 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis severity ISO RGD:1344540 D RGD:6907358|PMID:17014550 20121031 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis susceptibility ISO RGD:1344540 D RGD:12910846|PMID:22882323 20170627 RGD associated with Premature Birth;DNA:polymorphism:: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344540 D RGD:11554173 20170207 CTD CTD Direct Evidence: therapeutic PMID:27567548 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20644519 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:6909176|PMID:22844472 20121114 RGD rat model treated with human gene-expressing stem cells 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury IEP D RGD:4143168|PMID:15970097 20100915 RGD mRNA:increased expression:lung 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury IMP D RGD:4143193|PMID:8613550 20100916 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9004960 Chronic Anterior Uveitis severity ISO RGD:1344540 D RGD:8549792|PMID:17005410 20140407 RGD DNA:snp:exon:g.2018T>C (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1344540 D RGD:6771361|PMID:21890879 20140410 RGD human protein in a mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005372 Inflammation IEP D RGD:1626679|PMID:15050649 20070817 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25665855 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344540 D RGD:8551855|PMID:17221214 20140415 RGD human gene in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733437 D RGD:6907397|PMID:19545727 20121102 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733437 D RGD:6907425|PMID:8037760 20121102 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1344540 D RGD:8549788|PMID:16009838 20140407 RGD human protein in mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005749 Necrosis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1838896|PMID:20644519 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia IEP D RGD:8551846|PMID:1385928 20140415 RGD mRNA:increased expression:lung, spleen, liver (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia treatment ISO RGD:1344540 D RGD:11522760|PMID:8855299 20160808 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006182 Carotid Artery Injuries ISO RGD:1344540 D RGD:2316108|PMID:12754378 20121126 RGD human gene in rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:6907101|PMID:18363573 20121029 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:6909149|PMID:9555664 20121112 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733437 D RGD:6907359|PMID:16849996 20121031 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1344540 D RGD:8551854|PMID:23077050 20140415 RGD human protein in a rat model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006771 Chronic Rhinosinusitis susceptibility ISO RGD:1344540 D RGD:8549791|PMID:16549749 20140407 RGD DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344540 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006890 Chronic Uveitis ISO RGD:1344540 D RGD:8549804|PMID:10694897 20140408 RGD protein:increased expression:aqueous humor (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344540 D RGD:4142862|PMID:19258923 20100914 RGD DNA:SNP: :c.390T>C (rs315952) (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:733437 D RGD:8549805|PMID:9423885 20140408 RGD mRNA:increased expression:cornea (mouse) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:733437 D RGD:7401195|PMID:11895986 20131107 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:6909180|PMID:22781338 20121114 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:7240710 20180606 OMIM 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:12837270|PMID:16519819|PMID:17576681|PMID:19280228|PMID:19494218|PMID:19494219|PMID:19729864|PMID:20213597|PMID:20842532|PMID:21279638|PMID:21792839|PMID:22032624|PMID:22127713|PMID:22940634|PMID:23698098|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:26100510|PMID:28236224|PMID:28492532|PMID:32819369|PMID:9536098 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007346 Cachexia IDA D RGD:1626680|PMID:15005009 20070817 RGD associated with Inflammation 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007417 Pseudomonas Infections ISO RGD:1344540 D RGD:4143202|PMID:8327288 20100917 RGD associated with Cystic Fibrosis 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1344540 D RGD:11051970|PMID:23461376 20160412 RGD DNA:SNP:intron:rs2234663 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1344540 D RGD:7174360|PMID:22649318 20121115 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007896 Sclerosis ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:7637259 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007956 Febrile Seizures ISO RGD:1344540 D RGD:1626672|PMID:16393156 20070816 RGD rat model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9007964 Arsenic Poisoning ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9008413 Oligoanuria ISO RGD:1344540 D RGD:6909130|PMID:10603133 20121108 RGD associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1344540 D RGD:8549803|PMID:16899778 20140408 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1344540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7706905 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis IEP D RGD:8551705|PMID:7928184 20140410 RGD mRNA:increased expression:uvea, retina (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis susceptibility ISO RGD:733437 D RGD:8549801|PMID:22267332 20140407 RGD 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:6906963|PMID:20805419 20121023 RGD protein:increased expression:plasma (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:6907356|PMID:17176440 20121031 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1344540 D RGD:7175255|PMID:21205020 20121128 RGD associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344540 D RGD:6907412|PMID:8786086 20121102 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1344540 D RGD:6907409|PMID:17069782 20121102 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9498 pulmonary eosinophilia ISO RGD:1344540 D RGD:11528542|PMID:24706315 20160811 RGD protein:increased expression:Bronchoalveolar lavage: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma ISO RGD:1344540 D RGD:11051973|PMID:17926179 20160412 RGD DNA:snp: :11100C>T (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma no_association ISO RGD:1344540 D RGD:11522764|PMID:10848780 20160808 RGD DNA:repeats:intron: 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9588 encephalitis IEP D RGD:8551849|PMID:15020061 20140415 RGD protein:increased expression:right hippocampus, plasma (rat) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:6907403|PMID:9112337 20121102 RGD protein:increased expression:serum (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:6907407|PMID:9158104 20121102 RGD mouse model treated with human protein 621159 Il1rn interleukin 1 receptor antagonist gene DOID:986 alopecia areata severity ISO RGD:1344540 D RGD:6909137|PMID:8077705 20121109 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9938 dacryocystitis treatment ISO RGD:1344540 D RGD:8551706|PMID:24068863 20140410 RGD human protein in a mouse model 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:1344540 D RGD:1626665|PMID:12716739 20070816 RGD mRNA, protein:increased expression:adipose tissue 621159 Il1rn interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:733437 D RGD:1626664|PMID:12975454 20070816 RGD 621160 Nup107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:7240710 20190315 OMIM 621160 Nup107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 11 PMID:25741868|PMID:26411495|PMID:28492532|PMID:30179222 621160 Nup107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:7240710 20190315 OMIM 621160 Nup107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:8554872 20180918 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 6 PMID:26485283 621160 Nup107 nucleoporin 107 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732596 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 621160 Nup107 nucleoporin 107 gene DOID:5426 primary ovarian insufficiency ISO RGD:732596 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 621160 Nup107 nucleoporin 107 gene DOID:630 genetic disease ISO RGD:732596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621160 Nup107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:7240710 20190315 OMIM 621160 Nup107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:28492532|PMID:30179222 621160 Nup107 nucleoporin 107 gene DOID:9008086 Developmental Disabilities ISO RGD:732596 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:30179222 621161 Ezr ezrin gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 621161 Ezr ezrin gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 621161 Ezr ezrin gene DOID:305 carcinoma ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621161 Ezr ezrin gene DOID:630 genetic disease ISO RGD:1350208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 621161 Ezr ezrin gene DOID:8398 osteoarthritis ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621161 Ezr ezrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621161 Ezr ezrin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 621161 Ezr ezrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621161 Ezr ezrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17566973|PMID:24763052 621161 Ezr ezrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350208 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621162 Cep350 centrosomal protein 350 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 621162 Cep350 centrosomal protein 350 gene DOID:1540 parathyroid carcinoma ISO RGD:1605105 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621162 Cep350 centrosomal protein 350 gene DOID:630 genetic disease ISO RGD:1605105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621162 Cep350 centrosomal protein 350 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605105 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 621162 Cep350 centrosomal protein 350 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605105 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621163 Mif macrophage migration inhibitory factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9372356 621163 Mif macrophage migration inhibitory factor gene DOID:0050700 cardiomyopathy IDA D RGD:1641991|PMID:15879312 20070828 RGD associated with Endotoxemia 621163 Mif macrophage migration inhibitory factor gene DOID:0060041 autism spectrum disorder ISO RGD:734203 D RGD:11554173 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503813 621163 Mif macrophage migration inhibitory factor gene DOID:0060180 colitis IDA D RGD:1641979|PMID:17324399 20070827 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12105854 621163 Mif macrophage migration inhibitory factor gene DOID:0080998 acute necrotizing pancreatitis IDA D RGD:727512|PMID:12612911 20070828 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:0081135 agammaglobulinemia 2 ISO RGD:734203 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 621163 Mif macrophage migration inhibitory factor gene DOID:10533 viral pneumonia ISO RGD:734204 D RGD:4891005|PMID:19941385 20101230 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:10763 hypertension IDA D RGD:4890974|PMID:19799867 20101228 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:11396 pulmonary edema ISO RGD:734204 D RGD:4891015|PMID:17277045 20110103 RGD associated with hemorrhage 621163 Mif macrophage migration inhibitory factor gene DOID:11650 bronchopulmonary dysplasia ISO RGD:734203 D RGD:4891007|PMID:18097062 20101230 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung 621163 Mif macrophage migration inhibitory factor gene DOID:1205 allergic disease ISO RGD:734203 D RGD:4891046|PMID:14962818 20110104 RGD DNA:polymorphisms:promoter: 621163 Mif macrophage migration inhibitory factor gene DOID:12716 newborn respiratory distress syndrome ISO RGD:734204 D RGD:4891007|PMID:18097062 20101230 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:12849 autistic disorder ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18676531 621163 Mif macrophage migration inhibitory factor gene DOID:14115 toxic shock syndrome IDA D RGD:1641978|PMID:17565848 20070827 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:14115 toxic shock syndrome IMP D RGD:4891013|PMID:17381395 20110103 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:1485 cystic fibrosis severity ISO RGD:734203 D RGD:4891053|PMID:16179637 20110104 RGD DNA:repeats:promoter 621163 Mif macrophage migration inhibitory factor gene DOID:1596 depressive disorder ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 621163 Mif macrophage migration inhibitory factor gene DOID:1679 cystitis IEP D RGD:1642002|PMID:12853844 20070828 RGD mRNA, protein:increased expression:nervous system 621163 Mif macrophage migration inhibitory factor gene DOID:1679 cystitis IEP D RGD:4890977|PMID:19066630 20101228 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:1790 malignant mesothelioma ISO RGD:734203 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 621163 Mif macrophage migration inhibitory factor gene DOID:1826 epilepsy IDA D RGD:4890972|PMID:20626060 20101228 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:1826 epilepsy ISO RGD:734203 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 621163 Mif macrophage migration inhibitory factor gene DOID:2030 anxiety disorder ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 621163 Mif macrophage migration inhibitory factor gene DOID:2349 arteriosclerosis ISO RGD:734204 D RGD:1641949|PMID:17435771 20070824 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:2841 asthma IDA D RGD:1641985|PMID:16455830 20070827 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:4891043|PMID:9637721 20110104 RGD protein:increased expression:bronchoalveolar lavage fluid 621163 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:4891059|PMID:19317738 20110104 RGD DNA:SNP:promoter:rs755622(human) 621163 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734204 D RGD:4891035|PMID:17373669 20110104 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:2841 asthma severity ISO RGD:734203 D RGD:4891052|PMID:16186482 20110104 RGD DNA:repeats:promoter 621163 Mif macrophage migration inhibitory factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:734203 D RGD:4891004|PMID:20439102 20101230 RGD DNA:SNP: :rs755622 (human) 621163 Mif macrophage migration inhibitory factor gene DOID:305 carcinoma ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621163 Mif macrophage migration inhibitory factor gene DOID:3612 retinitis IDA D RGD:1642013|PMID:10617911 20070828 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:734203 D RGD:4891022|PMID:12576459 20110103 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:4483 rhinitis ISO RGD:734204 D RGD:4891056|PMID:15922619 20110104 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:4483 rhinitis severity ISO RGD:734203 D RGD:4891045|PMID:15053202 20110104 RGD protein:increased expression:serum, nasal mucosa 621163 Mif macrophage migration inhibitory factor gene DOID:4780 anti-basement membrane glomerulonephritis IDA D RGD:1642011|PMID:10780884 20070828 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:5154 borna disease IEP D RGD:1642006|PMID:11870869 20070828 RGD protein:increased expression:astrocyte 621163 Mif macrophage migration inhibitory factor gene DOID:5419 schizophrenia ISO RGD:734203 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621163 Mif macrophage migration inhibitory factor gene DOID:552 pneumonia severity ISO RGD:734203 D RGD:4891058|PMID:19346297 20110104 RGD DNA:repeats:promoter 621163 Mif macrophage migration inhibitory factor gene DOID:557 kidney disease IEP D RGD:1641957|PMID:9158105 20070824 RGD associated with Hypercholesterolemia;mRNA:increased expression:glomerulus 621163 Mif macrophage migration inhibitory factor gene DOID:5844 myocardial infarction IEP D RGD:1642003|PMID:12704210 20070828 RGD mRNA, protein:increased expression:myocardium 621163 Mif macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:734203 D RGD:1642008|PMID:11589847 20070828 RGD protein:increased expression:plasma 621163 Mif macrophage migration inhibitory factor gene DOID:630 genetic disease ISO RGD:734203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621163 Mif macrophage migration inhibitory factor gene DOID:6432 pulmonary hypertension ISO RGD:734203 D RGD:4891006|PMID:18618071 20101230 RGD associated with sclerodema, systemic; protein:increased expression:serum 621163 Mif macrophage migration inhibitory factor gene DOID:7148 rheumatoid arthritis ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 621163 Mif macrophage migration inhibitory factor gene DOID:820 myocarditis onset IDA D RGD:1641993|PMID:15276025 20070828 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:850 lung disease IMP D RGD:4891023|PMID:9700137 20110103 RGD acute lung injury 621163 Mif macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734203|RGD:734204 D RGD:4891012|PMID:17585860 20101230 RGD acute lung injury 621163 Mif macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:4891012|PMID:17585860 20101230 RGD acute lung injury; mRNA, protein:increased expression, increased secretion:lung, serum 621163 Mif macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:4891017|PMID:16574946 20110103 RGD acute lung injury; associated with pancreatitis and endotoxemia 621163 Mif macrophage migration inhibitory factor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:1641997|PMID:15067555 20070828 RGD mRNA:increased expression:spinal cord, microglial cell 621163 Mif macrophage migration inhibitory factor gene DOID:9000058 Keloid ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 621163 Mif macrophage migration inhibitory factor gene DOID:9000099 Experimental Colitis severity ISO RGD:734204 D RGD:36947390|PMID:15807847 20200803 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621163 Mif macrophage migration inhibitory factor gene DOID:9000528 Coronary Disease IEP D RGD:4890973|PMID:20367970 20101228 RGD coronary occlusion; mRNA:increased expression:myocardium 621163 Mif macrophage migration inhibitory factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:734204 D RGD:4891035|PMID:17373669 20110104 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9000808 Hypercholesterolemia IEP D RGD:1641957|PMID:9158105 20070824 RGD mRNA:increased expression:glomerulus 621163 Mif macrophage migration inhibitory factor gene DOID:9000918 Disease Progression ISO RGD:734203 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 621163 Mif macrophage migration inhibitory factor gene DOID:9000998 Brain Injuries IEP D RGD:1641989|PMID:15922484 20070828 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:1642007|PMID:11798463 20070828 RGD protein:increased expression:liver 621163 Mif macrophage migration inhibitory factor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1642000|PMID:14706927 20070828 RGD protein:increased expression:hepatocyte 621163 Mif macrophage migration inhibitory factor gene DOID:9002019 Granuloma IEP D RGD:1642009|PMID:11126199 20070828 RGD associated with Kidney Diseases 621163 Mif macrophage migration inhibitory factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17728788 621163 Mif macrophage migration inhibitory factor gene DOID:9002457 Experimental Arthritis IDA D RGD:1642012|PMID:10765927 20070828 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:734203 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621163 Mif macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:734203 D RGD:7240710 20230505 OMIM 621163 Mif macrophage migration inhibitory factor gene DOID:9004009 Reperfusion Injury disease_progression ISO RGD:734204 D RGD:4891010|PMID:18055556 20101230 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9892616 621163 Mif macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:4891012|PMID:17585860 20101230 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621163 Mif macrophage migration inhibitory factor gene DOID:9005372 Inflammation IDA D RGD:1641985|PMID:16455830 20070827 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20127836 621163 Mif macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734204 D RGD:1641949|PMID:17435771 20070824 RGD 621163 Mif macrophage migration inhibitory factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734204 D RGD:1641951|PMID:15790730 20070824 RGD protein:increased expression:pancreatic islet 621163 Mif macrophage migration inhibitory factor gene DOID:9005930 Endotoxemia IEP D RGD:1641983|PMID:16601957 20070827 RGD protein:increased expression:plasma 621163 Mif macrophage migration inhibitory factor gene DOID:9007096 Stroke IEP D RGD:4890976|PMID:19131653 20101228 RGD mRNA,protein:increased expression:brain 621163 Mif macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:734203 D RGD:4890976|PMID:19131653 20101228 RGD mRNA,protein:increased expression:leukocytes, mononuclear, plasma 621163 Mif macrophage migration inhibitory factor gene DOID:9007253 Hamartoma ISO RGD:734203 D RGD:4891009|PMID:18074864 20101230 RGD associated with lung disease; protein:increased expression:lung 621163 Mif macrophage migration inhibitory factor gene DOID:9007692 Insulin Resistance ISO RGD:734203 D RGD:1641955|PMID:12552367 20070824 RGD protein:increased expression:plasma 621163 Mif macrophage migration inhibitory factor gene DOID:9007730 Burns IEP D RGD:1642001|PMID:14625478 20070828 RGD mRNA, protein:increased expression:liver, serum 621163 Mif macrophage migration inhibitory factor gene DOID:9007840 Chylothorax ISO RGD:734203 D RGD:4891014|PMID:17295350 20110103 RGD protein:increased expression:amniotic fluid 621163 Mif macrophage migration inhibitory factor gene DOID:9008023 Memory Disorders ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 621163 Mif macrophage migration inhibitory factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:734203 D RGD:5131286|PMID:20811626 20101230 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human) 621163 Mif macrophage migration inhibitory factor gene DOID:9008939 Breast Neoplasms ISO RGD:734203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 621163 Mif macrophage migration inhibitory factor gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1641984|PMID:16571782 20070827 RGD mRNA, protein:increased expression:kidney cortex, epithelial cell 621163 Mif macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:1641950|PMID:16247506 20070824 RGD DNA:polymorphisms:promoter 621163 Mif macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:1641953|PMID:15472203 20070824 RGD mRNA, protein:increased expression:mononuclear cell, plasma 621164 Lin7c lin-7 homolog C, crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:735828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621166 Lmo1 LIM domain only 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352109 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 621166 Lmo1 LIM domain only 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352109 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:2034676|PMID:3259177 621166 Lmo1 LIM domain only 1 gene DOID:630 genetic disease ISO RGD:1352109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621167 Dars1 aspartyl-tRNA synthetase 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732389 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 621167 Dars1 aspartyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:732389 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621167 Dars1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:7240710 20140911 OMIM 621167 Dars1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity PMID:23643384|PMID:25527264|PMID:25741868|PMID:28492532 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:0002116 pterygium susceptibility ISO RGD:1353911 D RGD:8657375|PMID:14716324 20140606 RGD DNA:missense mutation:exon:p.S326C (1245C>G, rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:0060058 lymphoma ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17441966 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:8657136|PMID:24649009 20140603 RGD DNA:missense mutation:cds:p.S326C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:8657378|PMID:19914098 20140606 RGD DNA:missense mutation:exon:p.S326C (1245C>G) (rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1070 primary open angle glaucoma ISO RGD:1353911 D RGD:8657152|PMID:23499241 20140603 RGD DNA:SNP: :p.S326C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1115 sarcoma ISO RGD:732766 D RGD:8657138|PMID:16024598 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:114 heart disease ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21873502 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:12336 male infertility ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23376476 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:12361 Graves' disease ISO RGD:1353911 D RGD:8657376|PMID:21465496 20140606 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:12858 Huntington's disease ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19857538 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:14115 toxic shock syndrome ISO RGD:732766 D RGD:8657146|PMID:15677345 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:14330 Parkinson's disease ISO RGD:1353911 D RGD:8657142|PMID:15841414 20140603 RGD protein:increased expression:substantia nigra, neuron 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:8657149|PMID:16614128 20140603 RGD DNA:polymorphism: :11657A>G (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:8657371|PMID:11536371 20140606 RGD protein:increased expression:breast 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer disease_progression ISO RGD:1353911 D RGD:8657368|PMID:24395279 20140606 RGD DNA:hypermethylation:promoter 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:8657149|PMID:16614128 20140603 RGD DNA:polymorphisms: :p.S326C, 7143A>G (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:8657157|PMID:16492928 20140603 RGD DNA:missense mutation: :p.S326C (rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:8657370|PMID:20183911 20140606 RGD DNA:polymorphisms: :p.R229Q (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:8657371|PMID:11536371 20140606 RGD DNA:transition:intron:IVS1+22G>A (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:8657373|PMID:21153698 20140606 RGD DNA:SNPs:5' utr:c.-23A>G, c.-45G>A, c.-63G>C, (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:8657139|PMID:24606430 20140603 RGD DNA:SNP: :p.S326C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:8657140|PMID:24076439 20140603 RGD DNA:SNPs: :rs2072668, p.S326C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:8657373|PMID:21153698 20140606 RGD DNA:SNPs:5' utr:c.-18G>T, c.-53G>C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1749 squamous cell carcinoma ISO RGD:732766 D RGD:8657138|PMID:16024598 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer ISO RGD:1353911 D RGD:2317130|PMID:18559563 20100315 RGD DNA:polymorphism: :rs1052133 (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1353911 D RGD:2317132|PMID:17230526 20100315 RGD DNA:polymorphism: :2657G>A (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1824 status epilepticus IEP D RGD:2317139|PMID:18295498 20100315 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2237 hepatitis IEP D RGD:8657400|PMID:14633694 20140609 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:224 transient cerebral ischemia IEP D RGD:8657406|PMID:14600440 20140609 RGD protein:increased expression:cerebral cortex 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353911 D RGD:8657369|PMID:24698998 20140606 RGD DNA:SNP:intron: (rs2304277) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma ISO RGD:1353911 D RGD:8657137|PMID:22436579 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma no_association ISO RGD:1353911 D RGD:8657158|PMID:15466987 20140603 RGD DNA:missense mutation: :p.S326C (rs1052133)(human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353911 D RGD:8657372|PMID:22110223 20140606 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2843 long QT syndrome ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:299 adenocarcinoma ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3042 allergic contact dermatitis ISO RGD:732766 D RGD:8657146|PMID:15677345 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:8657154|PMID:19265534 20140603 RGD associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:8657155|PMID:17932460 20140603 RGD associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma no_association ISO RGD:1353911 D RGD:8657155|PMID:17932460 20140603 RGD associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:8657395|PMID:17920569 20140609 RGD associated with Hypertension 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:37 skin disease ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759981 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3770 pulmonary fibrosis ISO RGD:1353911 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35654123 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3910 lung adenocarcinoma ISO RGD:1353911 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23951099 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4450 renal cell carcinoma IEP D RGD:2317140|PMID:18218111 20100315 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4450 renal cell carcinoma ISO RGD:1353911 D RGD:1600295|PMID:10987279 20070306 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4450 renal cell carcinoma ISO RGD:1353911 D RGD:7240710 20130221 OMIM 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10987279|PMID:12172214|PMID:19537786|PMID:21195604|PMID:25741868|PMID:9681819 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:2317134|PMID:11866974 20100315 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:2317136|PMID:11260864 20100315 RGD DNA:loss of heterozygosity (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353911 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1353911 D RGD:8657144|PMID:22081374 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1353911 D RGD:8657147|PMID:21727658 20140603 RGD DNA:SNP: :rs1052133 (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1353911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:678 progressive supranuclear palsy ISO RGD:1353911 D RGD:8657142|PMID:15841414 20140603 RGD protein:increased expression:pontine nucleus, neuron 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:83 cataract susceptibility ISO RGD:1353911 D RGD:8657151|PMID:22306120 20140603 RGD DNA:SNP: :p.S326C (rs1052133)(human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:2317128|PMID:19266243 20100315 RGD DNA:polymorphism: :p.S326C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:8657150|PMID:20564624 20140603 RGD DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1353911 D RGD:8657156|PMID:18977234 20140603 RGD associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:8657403|PMID:23053977 20140609 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002221 Hyperplasia ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11956079|PMID:14634453 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24599382 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1353911 D RGD:8657374|PMID:24599382 20140606 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002955 Nerve Degeneration ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26629949 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9003507 Premature Birth ISO RGD:1353911 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353911 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9004643 Urologic Neoplasms ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26359225 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9004814 Chromosome Aberrations ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005172 Lung Neoplasms ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17441966|PMID:19336973 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2317137|PMID:18676009 20100315 RGD protein:altered localization:pancreatic islet 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8657153|PMID:18599524 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732766 D RGD:8657146|PMID:15677345 20140603 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005873 Tongue Neoplasms ISO RGD:1353911 D RGD:8657148|PMID:19789535 20140603 RGD protein:decreased expression:saliva 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:2317150|PMID:12531391 20100316 RGD 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1353911 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:33072095 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9007023 Prenatal Injuries ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353911 D RGD:8657377|PMID:22271435 20140606 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:1353911 D RGD:8657379|PMID:22544315 20140606 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1353911 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22652274 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:2317133|PMID:12003641 20100315 RGD protein:increased expression:pancreatic islet, mitochondrion 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:936 brain disease ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9669 senile cataract susceptibility ISO RGD:1353911 D RGD:10401084|PMID:24868140 20150924 RGD DNA:missense mutation:cds:p.S326C (human) 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9923 developmental coordination disorder ISO RGD:1353911 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 621168 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9970 obesity ISO RGD:1353911 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 621169 Syt9 synaptotagmin 9 gene DOID:630 genetic disease ISO RGD:1354462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621170 Anxa2 annexin A2 gene DOID:0080600 COVID-19 ISO RGD:736099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621170 Anxa2 annexin A2 gene DOID:10159 osteonecrosis ISO RGD:736099 D RGD:1578382|PMID:15784727 19990101 RGD 621170 Anxa2 annexin A2 gene DOID:11476 osteoporosis ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 621170 Anxa2 annexin A2 gene DOID:1350 paranasal sinus benign neoplasm disease_progression ISO RGD:736099 D RGD:7421559|PMID:20970165 20131121 RGD 621170 Anxa2 annexin A2 gene DOID:1459 hypothyroidism IEP D RGD:2306952|PMID:9022675 20150721 RGD protein:increased expression:thyroid gland: 621170 Anxa2 annexin A2 gene DOID:1749 squamous cell carcinoma ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 621170 Anxa2 annexin A2 gene DOID:1790 malignant mesothelioma ISO RGD:736099 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 621170 Anxa2 annexin A2 gene DOID:2717 Bloom syndrome ISO RGD:736099 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621170 Anxa2 annexin A2 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:736099 D RGD:7421560|PMID:19171478 20131121 RGD 621170 Anxa2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736099 D RGD:2325731|PMID:16450333 20100608 RGD mRNA, protein:increased expression, altered localization:pancreas, plasma membrane 621170 Anxa2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736099 D RGD:2317307|PMID:19260470 20100608 RGD 621170 Anxa2 annexin A2 gene DOID:4450 renal cell carcinoma IEP D RGD:7421570|PMID:14587099 20131121 RGD 621170 Anxa2 annexin A2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736099 D RGD:2325728|PMID:20493868 20100608 RGD 621170 Anxa2 annexin A2 gene DOID:630 genetic disease ISO RGD:736099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621170 Anxa2 annexin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:736099 D RGD:152999436|PMID:33675609 20220719 RGD mRNA, protein:increased expression:liver (human) 621170 Anxa2 annexin A2 gene DOID:7998 hyperthyroidism IEP D RGD:2306952|PMID:9022675 20150721 RGD protein:decreased expression:thyroid gland: 621170 Anxa2 annexin A2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10053688|PMID:15248295 20150720 RGD mRNA,protein:increased expression:neuron,glial cell 621170 Anxa2 annexin A2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 621170 Anxa2 annexin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621170 Anxa2 annexin A2 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:736099 D RGD:10053727|PMID:10903884 20150721 RGD protein:increased expression:chondrocyte: 621170 Anxa2 annexin A2 gene DOID:9002457 Experimental Arthritis ameliorates IMP D RGD:150519886|PMID:24819400 20211013 RGD 621170 Anxa2 annexin A2 gene DOID:9003936 Cardiomegaly IEP D RGD:10053694|PMID:10603972 20150720 RGD mRNA:increased expression:heart: 621170 Anxa2 annexin A2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 621170 Anxa2 annexin A2 gene DOID:9004657 Weight Gain ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621170 Anxa2 annexin A2 gene DOID:9005172 Lung Neoplasms ISO RGD:736099 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 621170 Anxa2 annexin A2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306888|PMID:11423489 20090511 RGD protein:increased glycation:respiratory system blood vessel endothelium 621170 Anxa2 annexin A2 gene DOID:9007188 Liver Neoplasms ISO RGD:736099 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 621170 Anxa2 annexin A2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 621170 Anxa2 annexin A2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 621170 Anxa2 annexin A2 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:731825 D RGD:38676497|PMID:26371245 20200922 RGD 621170 Anxa2 annexin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:736099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 621170 Anxa2 annexin A2 gene DOID:9256 colorectal cancer ISO RGD:736099 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621171 Anxa4 annexin A4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 621171 Anxa4 annexin A4 gene DOID:305 carcinoma ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621171 Anxa4 annexin A4 gene DOID:4450 renal cell carcinoma ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 621171 Anxa4 annexin A4 gene DOID:630 genetic disease ISO RGD:735938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621171 Anxa4 annexin A4 gene DOID:684 hepatocellular carcinoma ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 621171 Anxa4 annexin A4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621171 Anxa4 annexin A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 621171 Anxa4 annexin A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621171 Anxa4 annexin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621171 Anxa4 annexin A4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621171 Anxa4 annexin A4 gene DOID:9007188 Liver Neoplasms ISO RGD:735938 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 621171 Anxa4 annexin A4 gene DOID:9119 acute myeloid leukemia ISO RGD:735938 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 621172 Anxa6 annexin A6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621172 Anxa6 annexin A6 gene DOID:630 genetic disease ISO RGD:733718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621172 Anxa6 annexin A6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733718 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; protein:decreased expression:liver tumor (human) 621172 Anxa6 annexin A6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621172 Anxa6 annexin A6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733718 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621172 Anxa6 annexin A6 gene DOID:9119 acute myeloid leukemia ISO RGD:733718 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 621173 Anxa7 annexin A7 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731625 D RGD:2292654|PMID:17708571 20080429 RGD protein:decreased expression:lymph node 621173 Anxa7 annexin A7 gene DOID:10283 prostate cancer ISO RGD:731625 D RGD:2292654|PMID:17708571 20080429 RGD protein:decreased expression:prostate gland 621173 Anxa7 annexin A7 gene DOID:1612 breast cancer disease_progression ISO RGD:731625 D RGD:2292655|PMID:15073110 20080430 RGD protein:increased expression:breast 621173 Anxa7 annexin A7 gene DOID:234 colon adenocarcinoma ISO RGD:731625 D RGD:2292654|PMID:17708571 20080429 RGD protein:decreased expression:colon 621173 Anxa7 annexin A7 gene DOID:2394 ovarian cancer ISO RGD:731625 D RGD:2292654|PMID:17708571 20080429 RGD protein:decreased expression:ovary 621173 Anxa7 annexin A7 gene DOID:4159 skin cancer ISO RGD:731625 D RGD:2292654|PMID:17708571 20080429 RGD protein:decreased expression:skin 621173 Anxa7 annexin A7 gene DOID:630 genetic disease ISO RGD:731625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621173 Anxa7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:2292655|PMID:15073110 20080429 RGD associated with Breast Neoplasms;protein:increased expression:breast 621173 Anxa7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:2292656|PMID:11287641 20080429 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate gland 621173 Anxa7 annexin A7 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731625 D RGD:2292654|PMID:17708571 20080429 RGD protein:decreased expression:salivary gland 621173 Anxa7 annexin A7 gene DOID:9007188 Liver Neoplasms ISO RGD:731625 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 621174 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 621174 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 621174 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:1059 intellectual disability ISO RGD:1323465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 621174 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:4621 holoprosencephaly ISO RGD:1323465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 621174 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:630 genetic disease ISO RGD:1323465 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621174 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:30787422 621175 Plekha5 pleckstrin homology domain containing A5 gene DOID:630 genetic disease ISO RGD:1344659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621175 Plekha5 pleckstrin homology domain containing A5 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1344659 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868 621175 Plekha5 pleckstrin homology domain containing A5 gene DOID:9296 cleft lip ISO RGD:1344659 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 621176 Scd stearoyl-CoA desaturase gene DOID:0080600 COVID-19 ISO RGD:735301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621176 Scd stearoyl-CoA desaturase gene DOID:0081120 Graves ophthalmopathy ISO RGD:735301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 621176 Scd stearoyl-CoA desaturase gene DOID:10603 glucose intolerance ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21661758 621176 Scd stearoyl-CoA desaturase gene DOID:2018 hyperinsulinism IEP D RGD:1580005|PMID:16284748 20150324 RGD associated with Obesity 621176 Scd stearoyl-CoA desaturase gene DOID:305 carcinoma IDA D RGD:633981|PMID:12419843 19990101 RGD 621176 Scd stearoyl-CoA desaturase gene DOID:305 carcinoma ISO RGD:735301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 621176 Scd stearoyl-CoA desaturase gene DOID:37 skin disease ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21661758 621176 Scd stearoyl-CoA desaturase gene DOID:5614 eye disease ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21661758 621176 Scd stearoyl-CoA desaturase gene DOID:6000 congestive heart failure ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 621176 Scd stearoyl-CoA desaturase gene DOID:630 genetic disease ISO RGD:735301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621176 Scd stearoyl-CoA desaturase gene DOID:684 hepatocellular carcinoma ISO RGD:735301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 621176 Scd stearoyl-CoA desaturase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 621176 Scd stearoyl-CoA desaturase gene DOID:9004657 Weight Gain ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21661758 621176 Scd stearoyl-CoA desaturase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 621176 Scd stearoyl-CoA desaturase gene DOID:9007188 Liver Neoplasms ISO RGD:735301 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:12419843 621176 Scd stearoyl-CoA desaturase gene DOID:9007692 Insulin Resistance ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21661758 621176 Scd stearoyl-CoA desaturase gene DOID:9452 fatty liver disease ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21661758 621176 Scd stearoyl-CoA desaturase gene DOID:9455 lipid storage disease ISO RGD:735301 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 621176 Scd stearoyl-CoA desaturase gene DOID:9970 obesity ISO RGD:736587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 621177 Scd2 stearoyl-Coenzyme A desaturase 2 gene DOID:3213 demyelinating disease ISO RGD:1331867 D RGD:633983|PMID:9751207 19990101 RGD 621177 Scd2 stearoyl-Coenzyme A desaturase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1331867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621177 Scd2 stearoyl-Coenzyme A desaturase 2 gene DOID:9004657 Weight Gain ISO RGD:1331867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621178 Rpl10 ribosomal protein L10 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621178 Rpl10 ribosomal protein L10 gene DOID:0050476 Barth syndrome ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621178 Rpl10 ribosomal protein L10 gene DOID:0050800 creatine transporter deficiency ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621178 Rpl10 ribosomal protein L10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350175 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 621178 Rpl10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 ISO RGD:1350175 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 PMID:18258260|PMID:25316788|PMID:25741868|PMID:25846674|PMID:26290468|PMID:7626060 621178 Rpl10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 susceptibility ISO RGD:1350175 D RGD:7240710 20230517 OMIM 621178 Rpl10 ribosomal protein L10 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 621178 Rpl10 ribosomal protein L10 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350175 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 621178 Rpl10 ribosomal protein L10 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621178 Rpl10 ribosomal protein L10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621178 Rpl10 ribosomal protein L10 gene DOID:12849 autistic disorder ISO RGD:1350175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16940977 621178 Rpl10 ribosomal protein L10 gene DOID:12849 autistic disorder ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 5 PMID:16940977|PMID:21567917|PMID:21681106|PMID:25316788|PMID:30208311 621178 Rpl10 ribosomal protein L10 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350175 D RGD:7240710 20230517 OMIM 621178 Rpl10 ribosomal protein L10 gene DOID:13628 favism ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 621178 Rpl10 ribosomal protein L10 gene DOID:2729 dyskeratosis congenita ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 621178 Rpl10 ribosomal protein L10 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1350175 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 621178 Rpl10 ribosomal protein L10 gene DOID:607 paraplegia ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621178 Rpl10 ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1350175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621178 Rpl10 ribosomal protein L10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621178 Rpl10 ribosomal protein L10 gene DOID:9002720 Splenomegaly ISO RGD:1350175 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 621179 Rpl13 ribosomal protein L13 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 621179 Rpl13 ribosomal protein L13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:732066 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia PMID:23956136|PMID:25741868|PMID:31630789 621179 Rpl13 ribosomal protein L13 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:732066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 621179 Rpl13 ribosomal protein L13 gene DOID:13636 Fanconi anemia ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 621179 Rpl13 ribosomal protein L13 gene DOID:14780 KBG syndrome ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 621179 Rpl13 ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:732066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621179 Rpl13 ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:732066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621179 Rpl13 ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:732066 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621179 Rpl13 ribosomal protein L13 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:732066 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 621179 Rpl13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:7240710 20200226 OMIM 621179 Rpl13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type PMID:23956136|PMID:25741868|PMID:28492532|PMID:31630789 621180 Rpl14 ribosomal protein L14 gene DOID:14330 Parkinson's disease ISO RGD:733020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 621180 Rpl14 ribosomal protein L14 gene DOID:4450 renal cell carcinoma ISO RGD:733020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 621180 Rpl14 ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:733020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621180 Rpl14 ribosomal protein L14 gene DOID:9074 systemic lupus erythematosus ISO RGD:733020 D RGD:11036103|PMID:12051391 20160217 RGD 621181 Rpl15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:7240710 20140911 OMIM 621181 Rpl15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 PMID:23812780|PMID:25741868|PMID:28492532 621181 Rpl15 ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:736821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621181 Rpl15 ribosomal protein L15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621181 Rpl15 ribosomal protein L15 gene DOID:9000918 Disease Progression ISO RGD:736821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621182 Rpl18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:7240710 20190315 OMIM 621182 Rpl18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 PMID:28280134 621182 Rpl18 ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:733647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621182 Rpl18 ribosomal protein L18 gene DOID:9000217 Stomach Neoplasms ISO RGD:733647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621182 Rpl18 ribosomal protein L18 gene DOID:9000918 Disease Progression ISO RGD:733647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621183 Rpl19 ribosomal protein L19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 621185 Cds1 CDP-diacylglycerol synthase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:734044 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 621185 Cds1 CDP-diacylglycerol synthase 1 gene DOID:305 carcinoma ISO RGD:734044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621185 Cds1 CDP-diacylglycerol synthase 1 gene DOID:630 genetic disease ISO RGD:734044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621185 Cds1 CDP-diacylglycerol synthase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621185 Cds1 CDP-diacylglycerol synthase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621185 Cds1 CDP-diacylglycerol synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734044 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 621186 Cds2 CDP-diacylglycerol synthase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:731362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 621186 Cds2 CDP-diacylglycerol synthase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:731362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 621186 Cds2 CDP-diacylglycerol synthase 2 gene DOID:630 genetic disease ISO RGD:731362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621188 Megf6 multiple EGF-like-domains 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621188 Megf6 multiple EGF-like-domains 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736662 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621188 Megf6 multiple EGF-like-domains 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621188 Megf6 multiple EGF-like-domains 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621188 Megf6 multiple EGF-like-domains 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621188 Megf6 multiple EGF-like-domains 6 gene DOID:630 genetic disease ISO RGD:736662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621188 Megf6 multiple EGF-like-domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736662 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621188 Megf6 multiple EGF-like-domains 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621189 Rpl22 ribosomal protein L22 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621189 Rpl22 ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:733560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621189 Rpl22 ribosomal protein L22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733560 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621190 Megf8 multiple EGF-like-domains 8 gene DOID:0050545 visceral heterotaxy ISS RGD:737435 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 621190 Megf8 multiple EGF-like-domains 8 gene DOID:0060234 Carpenter syndrome ISO RGD:737434 D RGD:11554173 20190205 CTD CTD Direct Evidence: marker/mechanism 621190 Megf8 multiple EGF-like-domains 8 gene DOID:0060234 Carpenter syndrome ISO RGD:737434 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 621190 Megf8 multiple EGF-like-domains 8 gene DOID:1148 polydactyly ISO RGD:737434 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:23063620|PMID:25741868|PMID:28914635|PMID:29168297 621190 Megf8 multiple EGF-like-domains 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 621190 Megf8 multiple EGF-like-domains 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 621190 Megf8 multiple EGF-like-domains 8 gene DOID:2340 craniosynostosis ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 621190 Megf8 multiple EGF-like-domains 8 gene DOID:5419 schizophrenia ISO RGD:737434 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621190 Megf8 multiple EGF-like-domains 8 gene DOID:630 genetic disease ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621190 Megf8 multiple EGF-like-domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:7240710 20140911 OMIM 621190 Megf8 multiple EGF-like-domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:16199547|PMID:17576681|PMID:23063620|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29168297|PMID:9536098 621190 Megf8 multiple EGF-like-domains 8 gene DOID:9269 maple syrup urine disease ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 621191 Rpl24 ribosomal protein L24 gene DOID:5723 optic atrophy ISS RGD:731427 D RGD:13592920 20180518 MouseDO OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 621191 Rpl24 ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:731426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621191 Rpl24 ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731426 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 621192 Rpl27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:7240710 20190315 OMIM 621192 Rpl27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 PMID:25424902|PMID:25741868|PMID:28492532 621192 Rpl27 ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621193 Rpl28 ribosomal protein L28 gene DOID:3525 middle cerebral artery infarction IEP D RGD:6480229|PMID:16805800 20160225 RGD 621193 Rpl28 ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:733961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621193 Rpl28 ribosomal protein L28 gene DOID:9004657 Weight Gain ISO RGD:733961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621194 Inhbc inhibin subunit beta C gene DOID:630 genetic disease ISO RGD:733811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621194 Inhbc inhibin subunit beta C gene DOID:6846 familial melanoma ISO RGD:733811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 621194 Inhbc inhibin subunit beta C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621195 Ptgr1 prostaglandin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732819 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621195 Ptgr1 prostaglandin reductase 1 gene DOID:630 genetic disease ISO RGD:732819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621195 Ptgr1 prostaglandin reductase 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:14401713|PMID:24853774 20190515 RGD protein:increased expression:liver 621196 Inhbe inhibin subunit beta E gene DOID:630 genetic disease ISO RGD:737308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621196 Inhbe inhibin subunit beta E gene DOID:6846 familial melanoma ISO RGD:737308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 621196 Inhbe inhibin subunit beta E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 621196 Inhbe inhibin subunit beta E gene DOID:9455 lipid storage disease ISO RGD:737308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 621197 Marcksl1 MARCKS-like 1 gene DOID:11832 visual epilepsy IEP D RGD:9685329|PMID:11054811 20150325 RGD 621197 Marcksl1 MARCKS-like 1 gene DOID:630 genetic disease ISO RGD:1352052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621198 Rfc2 replication factor C subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348076 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 621198 Rfc2 replication factor C subunit 2 gene DOID:10923 sickle cell anemia ISO RGD:1348076 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 621198 Rfc2 replication factor C subunit 2 gene DOID:12849 autistic disorder ISO RGD:1348076 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621198 Rfc2 replication factor C subunit 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 621198 Rfc2 replication factor C subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348076 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621198 Rfc2 replication factor C subunit 2 gene DOID:5419 schizophrenia ISO RGD:1348076 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621198 Rfc2 replication factor C subunit 2 gene DOID:630 genetic disease ISO RGD:1348076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621198 Rfc2 replication factor C subunit 2 gene DOID:8445 intestinal volvulus ISO RGD:1348076 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 621198 Rfc2 replication factor C subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348076 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621198 Rfc2 replication factor C subunit 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348076 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 621199 Nup155 nucleoporin 155 gene DOID:0060224 atrial fibrillation ISO RGD:734441 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 621199 Nup155 nucleoporin 155 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 621199 Nup155 nucleoporin 155 gene DOID:5426 primary ovarian insufficiency ISO RGD:734441 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 621199 Nup155 nucleoporin 155 gene DOID:630 genetic disease ISO RGD:734441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621199 Nup155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:7240710 20140911 OMIM 621199 Nup155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 PMID:15596564|PMID:19070573|PMID:25741868 621199 Nup155 nucleoporin 155 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734441 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621199 Nup155 nucleoporin 155 gene DOID:9008086 Developmental Disabilities ISO RGD:734441 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621200 Elob elongin B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 621200 Elob elongin B gene DOID:1826 epilepsy ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 621200 Elob elongin B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 621200 Elob elongin B gene DOID:630 genetic disease ISO RGD:734149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621201 Rpl30 ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:731558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621201 Rpl30 ribosomal protein L30 gene DOID:8566 herpes simplex ISO RGD:731558 D RGD:11039399|PMID:7588575 20160302 RGD protein:increased serine phosphorylation:ribosome 621202 Rpl31 ribosomal protein L31 gene DOID:630 genetic disease ISO RGD:734080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621202 Rpl31 ribosomal protein L31 gene DOID:9008939 Breast Neoplasms ISO RGD:734080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 621205 Zfp260 zinc finger protein 260 gene DOID:630 genetic disease ISO RGD:1606913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:630 genetic disease ISO RGD:737010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9000046 Poisoning ISO RGD:737010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly IEP D RGD:727442|PMID:12359233 20050217 RGD mRNA:decreased expression:heart ventricle 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:737011 D RGD:727442|PMID:12359233 20150305 RGD mRNA:decreased expression:heart left ventricle 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:737010 D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:28492532 621206 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737010 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:0060224 atrial fibrillation ISO RGD:731603 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731603 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:26676105 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:1682 congenital heart disease ISO RGD:731603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:6000 congestive heart failure ISO RGD:731603 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:630 genetic disease ISO RGD:731603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:6419 tetralogy of Fallot ISO RGD:731603 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:769 neuroblastoma ISO RGD:731603 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly IEP D RGD:727442|PMID:12359233 20050217 RGD mRNA:altered expression:cardiac ventricle 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731603 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731604 D RGD:727442|PMID:12359233 20150305 RGD mRNA:decreased expression:heart right ventricle 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731603 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:5132894|PMID:12955401 20110607 RGD protein:increased expression:heart right ventricle 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9006205 Animal Disease Models ISO RGD:731603 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 621207 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731603 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 621208 Slc4a7 solute carrier family 4 member 7 gene DOID:0110839 Usher syndrome type 2C ISS RGD:736860 D RGD:13592920 20180518 MouseDO OMIM:605472 621208 Slc4a7 solute carrier family 4 member 7 gene DOID:3910 lung adenocarcinoma ISO RGD:730989 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621208 Slc4a7 solute carrier family 4 member 7 gene DOID:630 genetic disease ISO RGD:730989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621208 Slc4a7 solute carrier family 4 member 7 gene DOID:9006205 Animal Disease Models ISO RGD:730989 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621209 Scg3 secretogranin III gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:732003 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 621209 Scg3 secretogranin III gene DOID:2717 Bloom syndrome ISO RGD:732003 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621209 Scg3 secretogranin III gene DOID:5419 schizophrenia ISO RGD:732003 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 621209 Scg3 secretogranin III gene DOID:607 paraplegia ISO RGD:732003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 621209 Scg3 secretogranin III gene DOID:630 genetic disease ISO RGD:732003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621209 Scg3 secretogranin III gene DOID:9256 colorectal cancer ISO RGD:732003 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621211 Fgfbp1 fibroblast growth factor binding protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1350352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 621211 Fgfbp1 fibroblast growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1350352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060337 CEDNIK syndrome ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:25741868|PMID:26467025|PMID:28492532 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0111901 heparin cofactor II deficiency ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:7240710 20211201 OMIM 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive PMID:25741868|PMID:28492532|PMID:34415322 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:1059 intellectual disability ISO RGD:736810 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:11198 DiGeorge syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:11372 megacolon ISO RGD:736810 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:12583 velocardiofacial syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:12849 autistic disorder ISO RGD:736810 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:1826 epilepsy ISO RGD:736810 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:2213 hemorrhagic disease ISO RGD:736810 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:2843 long QT syndrome ISO RGD:736810 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:5419 schizophrenia ISO RGD:736810 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:612 primary immunodeficiency disease ISO RGD:736810 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:630 genetic disease ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:7240710 20220202 OMIM 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 2 PMID:34415310 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9003871 Venous Thrombosis ISO RGD:736810 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736810 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9007661 Dwarfism ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:7240710 20170405 OMIM 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:25741868|PMID:25855803|PMID:26752647|PMID:28492532|PMID:34415310|PMID:34415322 621213 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9281 phenylketonuria ISO RGD:736810 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0080422 Dravet syndrome ISO RGD:732673 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0080599 Coronavirus infectious disease ISO RGD:732673 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0111940 immunodeficiency 42 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:1540 parathyroid carcinoma ISO RGD:732673 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732673 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:5812 MHC class II deficiency ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:630 genetic disease ISO RGD:732673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:7240710 20230505 OMIM 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 87 PMID:33358777 621214 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732673 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621215 Vsx2 visual system homeobox 2 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1348218 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC 621215 Vsx2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 621215 Vsx2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:10932181|PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:26995144|PMID:27013732|PMID:28121235|PMID:28492532|PMID:30181649|PMID:3378363 621215 Vsx2 visual system homeobox 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1348218 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 621215 Vsx2 visual system homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21976963|PMID:24033328|PMID:26893459|PMID:28492532|PMID:30181649 621215 Vsx2 visual system homeobox 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348218 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 621215 Vsx2 visual system homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1348218 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 621215 Vsx2 visual system homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:15257456|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:28492532|PMID:30181649 621215 Vsx2 visual system homeobox 2 gene DOID:1432 blindness susceptibility ISO RGD:1348218 D RGD:734779|PMID:10932181 20070328 RGD microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P 621215 Vsx2 visual system homeobox 2 gene DOID:630 genetic disease ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621215 Vsx2 visual system homeobox 2 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities PMID:10932181|PMID:11341888|PMID:17661825|PMID:23028343|PMID:25741868|PMID:27013732|PMID:28492532 621215 Vsx2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 621215 Vsx2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:25606400|PMID:25741868|PMID:28121235|PMID:28492532 621216 Chst10 carbohydrate sulfotransferase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353236 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621216 Chst10 carbohydrate sulfotransferase 10 gene DOID:630 genetic disease ISO RGD:1353236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621217 Xab2 XPA binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 621217 Xab2 XPA binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1342496 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 621217 Xab2 XPA binding protein 2 gene DOID:630 genetic disease ISO RGD:1342496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:0060041 autism spectrum disorder ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:731730 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:10283 prostate cancer ISO RGD:731730 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:10487 Hirschsprung's disease ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:1059 intellectual disability ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:1227 neutropenia ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12562666 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21114665 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9816193|PMID:16151913 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:7240710 20130221 OMIM 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 5-fluorouracil toxicity | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar Annotator: match by term: Pyrimidinemia familial PMID:10071185|PMID:10657402|PMID:10671643|PMID:10803677|PMID:11156223|PMID:11179210|PMID:11350878|PMID:11555601|PMID:11783493|PMID:11875367|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12164772|PMID:12209976|PMID:12360106|PMID:12562666|PMID:12851836|PMID:12885330|PMID:12912951|PMID:14635116|PMID:15017333|PMID:15102667|PMID:15132136|PMID:15571261|PMID:15591715|PMID:15858133|PMID:15890268|PMID:15899693|PMID:16033824|PMID:16115930|PMID:16151913|PMID:16361556|PMID:1648430|PMID:16719540|PMID:17000684|PMID:17000685|PMID:17046731|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17417073|PMID:17563256|PMID:17700593|PMID:17828463|PMID:17848752|PMID:17876700|PMID:17905396|PMID:18006695|PMID:18299612|PMID:18443386|PMID:18452418|PMID:18600527|PMID:18600544|PMID:18619742|PMID:18937829|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19822137|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20530282|PMID:20647221|PMID:20803296|PMID:20809970|PMID:20819423|PMID:20920994|PMID:20981092|PMID:21077799|PMID:21114665|PMID:21228398|PMID:21410976|PMID:21412232|PMID:21420945|PMID:21498394|PMID:21590448|PMID:21723269|PMID:21833589|PMID:21878539|PMID:21919607|PMID:22339448|PMID:22353294|PMID:22490566|PMID:22992668|PMID:22995991|PMID:23042115|PMID:23139054|PMID:23199091|PMID:23238479|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23517808|PMID:23585145|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23781135|PMID:23930673|PMID:23942539|PMID:23960437|PMID:23988873|PMID:24037119|PMID:24107927|PMID:24167597|PMID:24310106|PMID:24326041|PMID:24388031|PMID:24434920|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:24943064|PMID:25087612|PMID:25110414|PMID:25117664|PMID:25381393|PMID:25410891|PMID:25420024|PMID:25565930|PMID:25590979|PMID:25677447|PMID:25741868|PMID:25782327|PMID:25826134|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26330892|PMID:26467025|PMID:26505400|PMID:26551538|PMID:26603945|PMID:26621101|PMID:26623034|PMID:26651493|PMID:26658227|PMID:26716401|PMID:26792652|PMID:26794347|PMID:26804235|PMID:26804652|PMID:26846104|PMID:26894782|PMID:26967565|PMID:27122156|PMID:27248859|PMID:27281625|PMID:27454530|PMID:27544765|PMID:27701067|PMID:27727460|PMID:27738344|PMID:27752409|PMID:27864592|PMID:27884173|PMID:27995989|PMID:28024938|PMID:28027897|PMID:28112993|PMID:28128059|PMID:28237406|PMID:28262261|PMID:28295243|PMID:28395758|PMID:28427087|PMID:28481884|PMID:28492532|PMID:28572524|PMID:28614820|PMID:28745575|PMID:28929491|PMID:28950804|PMID:29045550|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29236957|PMID:29239269|PMID:29327356|PMID:29769267|PMID:29778030|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30349988|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30775324|PMID:30858516|PMID:30898145|PMID:30945278|PMID:31382864|PMID:31486738|PMID:31589614|PMID:31745289|PMID:32378051|PMID:32529295|PMID:32595208|PMID:32619063|PMID:32707991|PMID:32899374|PMID:32973300|PMID:33232506|PMID:33410339|PMID:33620159|PMID:33965356|PMID:34055682|PMID:34916829|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9010022|PMID:9254861|PMID:9266349|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374|PMID:9721209|PMID:9865912 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17443278|PMID:19020767 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:2317630|PMID:18309485 20100413 RGD 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731730 D RGD:2317629|PMID:20072795 20100413 RGD protein:increased expression:pancreas 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:1826 epilepsy ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Seizure PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:3121 gallbladder cancer disease_progression ISO RGD:731730 D RGD:2317631|PMID:16619549 20100413 RGD 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:409 liver disease IEP D RGD:1599789|PMID:10348793 20070215 RGD mRNA, Protein:increased expression 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:5419 schizophrenia ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731730 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:630 genetic disease ISO RGD:731730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11156223|PMID:11988088|PMID:12912951|PMID:14635116|PMID:16033824|PMID:16115930|PMID:17064846|PMID:17121937|PMID:17700593|PMID:17828463|PMID:17876700|PMID:18299612|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19795123|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21420945|PMID:21498394|PMID:21833589|PMID:21919607|PMID:22992668|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23930673|PMID:23960437|PMID:23988873|PMID:24167597|PMID:24326041|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:27122156|PMID:27454530|PMID:27727460|PMID:27995989|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:29065426|PMID:29152729|PMID:29327356|PMID:29769267|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:31486738|PMID:31745289|PMID:32529295|PMID:32595208|PMID:32707991|PMID:33232506 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3335642|PMID:15571261 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18019677 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:863 nervous system disease ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16435204 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9000217 Stomach Neoplasms ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:17089033|PMID:18652704 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17611699 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731730 D RGD:11251755|PMID:11383214 20160621 RGD associated with Colonic Neoplasms 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9002704 Leukoencephalopathies ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11148247 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9002775 Cognitive Dysfunction ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9002928 Colonic Neoplasms ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004278 Sarcoma, Yoshida treatment IMP D RGD:11251753|PMID:8138551 20160621 RGD 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:731730 D RGD:11098817|PMID:19473056 20160621 RGD associated with Neoplasms;DNA:missense mutations: :multiple 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:11098817|PMID:19473056 20160621 RGD associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:11251736|PMID:12209976 20160621 RGD associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:11251737|PMID:23942539 20160621 RGD associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:11251738|PMID:11156223 20160621 RGD DNA:splice-site mutation, missense mutations: :multiple 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:11098817|PMID:19473056 20160621 RGD associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:11251740|PMID:23064955 20160621 RGD associated with Stomach Neoplasms 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9005078 Congenital Macroglossia ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9005172 Lung Neoplasms ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9005466 Language Development Disorders ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21114665 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731730 D RGD:152995291|PMID:28347776 20220614 RGD DNA:SNP:cds:rs12119882 (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9007817 Macroglossia ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008086 Developmental Disabilities ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15814641|PMID:17047489|PMID:17611699|PMID:19020767 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008589 Hallux Valgus ISO RGD:731730 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hallux valgus PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9256 colorectal cancer IDA D RGD:11251746|PMID:23197286 20160621 RGD protein:increased activity:liver 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731730 D RGD:11098453|PMID:26846104 20160621 RGD DNA:SNP: :85T>C (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731730 D RGD:11098453|PMID:26846104 20160621 RGD DNA:splice-site mutation:intron:IVS14+1G>A (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731730 D RGD:11098453|PMID:26846104 20160621 RGD DNA:SNPs: :2194G>A, 1156G>T (human) 621218 Dpyd dihydropyrimidine dehydrogenase gene DOID:9970 obesity ISO RGD:731730 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISS RGD:730987 D RGD:13592920 20180518 MouseDO OMIM:204200 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:10003 sensorineural hearing loss ISO RGD:730986 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730987 D RGD:734783|PMID:12059962 20140219 RGD 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:3070 high grade glioma ISO RGD:730986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:630 genetic disease ISO RGD:730986 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17652080|PMID:26342074 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:730986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:9000918 Disease Progression ISO RGD:730986 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:9001042 Neurodevelopmental Disorder with Seizures and Brain Abnormalities ISO RGD:730986 D RGD:7240710 20221123 OMIM 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:34186028 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:7240710 20211027 OMIM 621219 Clcn3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities PMID:24033266|PMID:25741868|PMID:34186028 621220 Serpina10 serpin family A member 10 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 621220 Serpina10 serpin family A member 10 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:1353693 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:15461625|PMID:18710385|PMID:22039093|PMID:23352160|PMID:25741868 621220 Serpina10 serpin family A member 10 gene DOID:0081063 DICER1 syndrome ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 621220 Serpina10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15461625 621220 Serpina10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:1580104|PMID:15461625 19990101 RGD DNA:nonsense mutations, missense mutations:cds:multiple (human) 621220 Serpina10 serpin family A member 10 gene DOID:630 genetic disease ISO RGD:1353693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621220 Serpina10 serpin family A member 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1353693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15461625 621220 Serpina10 serpin family A member 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1353693 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:15461625 621222 Fcnb ficolin B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 621222 Fcnb ficolin B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 621222 Fcnb ficolin B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 621222 Fcnb ficolin B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 621222 Fcnb ficolin B gene DOID:0081097 Rafiq syndrome ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 621222 Fcnb ficolin B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 621222 Fcnb ficolin B gene DOID:3652 Leigh disease ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 621222 Fcnb ficolin B gene DOID:630 genetic disease ISO RGD:1351597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621222 Fcnb ficolin B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621222 Fcnb ficolin B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 621222 Fcnb ficolin B gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1351597 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:2717 Bloom syndrome ISO RGD:733249 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:630 genetic disease ISO RGD:733249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:9002189 High Myopia ISO RGD:733249 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:7240710 20190626 OMIM 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Uridine-cytidineuria PMID:14978229|PMID:21998139|PMID:30847922 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733249 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16837820 621223 Slc28a1 solute carrier family 28 member 1 gene DOID:9256 colorectal cancer ISO RGD:733249 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621224 Slc28a3 solute carrier family 28 member 3 gene DOID:630 genetic disease ISO RGD:731872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621224 Slc28a3 solute carrier family 28 member 3 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2317455|PMID:16014043 20100406 RGD 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1352781 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1352781 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1352781 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0070311 oligoasthenoteratozoospermia ISS RGD:1551024 D RGD:13592920 20220616 MouseDO 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1352781 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1352781 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:1882 atrial heart septal defect ISO RGD:1352781 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:5419 schizophrenia ISO RGD:1352781 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352781 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 621225 Ppp4c protein phosphatase 4, catalytic subunit gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1352781 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 621226 Golph3 golgi phosphoprotein 3 gene DOID:630 genetic disease ISO RGD:1349293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621226 Golph3 golgi phosphoprotein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349293 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621226 Golph3 golgi phosphoprotein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349293 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621227 Daxx death-domain associated protein gene DOID:0050553 JMP syndrome ISO RGD:1345950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 621227 Daxx death-domain associated protein gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1345950 D RGD:152025200|PMID:26205068 20220428 RGD human cell line in a mouse model 621227 Daxx death-domain associated protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1345950 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 621227 Daxx death-domain associated protein gene DOID:0080521 lung non-squamous non-small cell carcinoma exacerbates ISO RGD:1345950 D RGD:152025202|PMID:28004751 20220428 RGD protein:decreased expression:lung (human) 621227 Daxx death-domain associated protein gene DOID:10283 prostate cancer disease_progression ISO RGD:1345950 D RGD:9587815|PMID:23642739 20141021 RGD 621227 Daxx death-domain associated protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1345950 D RGD:152025201|PMID:32203224 20220428 RGD protein:decreased expression:stomach (human) 621227 Daxx death-domain associated protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1345950 D RGD:152025197|PMID:28812328 20220428 RGD protein:decreased expression:cytoplasm (human) 621227 Daxx death-domain associated protein gene DOID:10534 stomach cancer severity ISO RGD:1345950 D RGD:152025196|PMID:32641734 20220428 RGD protein:altered expression:nucleus, cytoplasm (human) 621227 Daxx death-domain associated protein gene DOID:11240 appendiceal neoplasm ISO RGD:1345950 D RGD:152025217|PMID:30962504 20220429 RGD DNA:CNV: (human) 621227 Daxx death-domain associated protein gene DOID:1240 leukemia ISO RGD:1345950 D RGD:9587840|PMID:17306074 20141021 RGD protein:increased expression:bone marrow: 621227 Daxx death-domain associated protein gene DOID:169 neuroendocrine tumor ISO RGD:1345950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 621227 Daxx death-domain associated protein gene DOID:169 neuroendocrine tumor severity ISO RGD:1345950 D RGD:9587816|PMID:23954140 20141021 RGD 621227 Daxx death-domain associated protein gene DOID:1793 pancreatic cancer ISO RGD:1345950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 621227 Daxx death-domain associated protein gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1345950 D RGD:152025205|PMID:29212165 20220428 RGD DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) 621227 Daxx death-domain associated protein gene DOID:1799 islet cell tumor disease_progression ISO RGD:1345950 D RGD:9587819|PMID:21252315 20141021 RGD 621227 Daxx death-domain associated protein gene DOID:2152 ovary epithelial cancer ISO RGD:1345950 D RGD:9587820|PMID:23539629 20141021 RGD 621227 Daxx death-domain associated protein gene DOID:224 transient cerebral ischemia IEP D RGD:4142863|PMID:18096138 20220527 RGD mRNA,protein:increased expression:cerebral cortex: 621227 Daxx death-domain associated protein gene DOID:224 transient cerebral ischemia treatment IDA D RGD:9587802|PMID:17967739 20141020 RGD 621227 Daxx death-domain associated protein gene DOID:234 colon adenocarcinoma ISO RGD:1345950 D RGD:9587838|PMID:16569639 20141021 RGD protein:decreased expression:colon: 621227 Daxx death-domain associated protein gene DOID:2671 transitional cell carcinoma ISO RGD:1345950 D RGD:9587843|PMID:23819605 20141021 RGD 621227 Daxx death-domain associated protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1345950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 621227 Daxx death-domain associated protein gene DOID:4468 clear cell adenocarcinoma ISO RGD:1345950 D RGD:9587820|PMID:23539629 20141021 RGD protein:increased expression:ovary: 621227 Daxx death-domain associated protein gene DOID:630 genetic disease ISO RGD:1345950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621227 Daxx death-domain associated protein gene DOID:9000558 Mucinous Cystadenoma ISO RGD:1345950 D RGD:9587820|PMID:23539629 20141021 RGD protein:increased expression:ovary: 621227 Daxx death-domain associated protein gene DOID:9000659 Heavy Metal Toxicity IEP D RGD:9587799|PMID:17692352 20141020 RGD mRNA:increased expression:liver: 621227 Daxx death-domain associated protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345950 D RGD:9587820|PMID:23539629 20141021 RGD 621227 Daxx death-domain associated protein gene DOID:9003676 Brain Hypoxia-Ischemia IMP D RGD:9587791|PMID:21843499 20141020 RGD 621227 Daxx death-domain associated protein gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345950 D RGD:9587820|PMID:23539629 20141021 RGD protein:increased expression:ovary: 621227 Daxx death-domain associated protein gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1345950 D RGD:127285385|PMID:26026117 20210618 RGD 621227 Daxx death-domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1345950 D RGD:9587836|PMID:18480747 20141021 RGD protein:increased expression:kidney: 621227 Daxx death-domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732822 D RGD:9587836|PMID:18480747 20141021 RGD protein:increased expression:kidney: 621227 Daxx death-domain associated protein gene DOID:9006618 Liver Metastasis ISO RGD:1345950 D RGD:152025203|PMID:30339629 20220428 RGD associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human) 621227 Daxx death-domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:152025194|PMID:31942198 20220428 RGD associated with colon cancer; mRNA:decreased expression:liver (human) 621227 Daxx death-domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:152025199|PMID:30342802 20220428 RGD associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human) 621227 Daxx death-domain associated protein gene DOID:9008844 Serous Cystadenoma ISO RGD:1345950 D RGD:9587820|PMID:23539629 20141021 RGD protein:increased expression:ovary: 621228 Enpep glutamyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621228 Enpep glutamyl aminopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732266 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621228 Enpep glutamyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732266 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 621229 Glra3 glycine receptor, alpha 3 gene DOID:4001 ovarian carcinoma ISO RGD:732840 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 621229 Glra3 glycine receptor, alpha 3 gene DOID:630 genetic disease ISO RGD:732840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621229 Glra3 glycine receptor, alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732840 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621230 Pnma1 PNMA family member 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:737176 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 621230 Pnma1 PNMA family member 1 gene DOID:1059 intellectual disability ISO RGD:737176 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1349006 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:630 genetic disease ISO RGD:1349006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1349006 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349006 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349006 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 621232 Pcdhga11 protocadherin gamma subfamily A, 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621233 Cdx1 caudal type homeo box 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621233 Cdx1 caudal type homeo box 1 gene DOID:630 genetic disease ISO RGD:1321203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621233 Cdx1 caudal type homeo box 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621234 Cdx2 caudal type homeo box 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730914 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 621234 Cdx2 caudal type homeo box 2 gene DOID:0080700 caudal regression syndrome ISO RGD:730914 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 621234 Cdx2 caudal type homeo box 2 gene DOID:630 genetic disease ISO RGD:730914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621234 Cdx2 caudal type homeo box 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730914 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35674868 621234 Cdx2 caudal type homeo box 2 gene DOID:9000545 Ectromelia ISO RGD:730914 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 621234 Cdx2 caudal type homeo box 2 gene DOID:9001441 Adenomatous Polyps ISO RGD:730915 D RGD:734757|PMID:9052785 19990101 RGD 621234 Cdx2 caudal type homeo box 2 gene DOID:9001471 Anorectal Malformations ISO RGD:730914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anorectal malformation PMID:25741868 621234 Cdx2 caudal type homeo box 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730914 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 621234 Cdx2 caudal type homeo box 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:730914 D RGD:7349348|PMID:23011828 20130920 RGD 621235 Ndel1 nudE neurodevelopment protein 1-like 1 gene DOID:5419 schizophrenia ISO RGD:1352165 D RGD:12790585|PMID:16510495 20170216 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: 621235 Ndel1 nudE neurodevelopment protein 1-like 1 gene DOID:630 genetic disease ISO RGD:1352165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621235 Ndel1 nudE neurodevelopment protein 1-like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:0111590 Cohen syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605385 D RGD:151665189|PMID:32934672 20220315 RGD mRNA:increased expression:stomach (human) 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:1612 breast cancer exacerbates ISO RGD:1605385 D RGD:151665194|PMID:28330927 20220315 RGD human gene in a mouse cell line and mouse model 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:219 colon cancer exacerbates ISO RGD:1605385 D RGD:151665201|PMID:29441938 20220315 RGD mRNA:increased expression:colon (human) 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1605385 D RGD:151665195|PMID:29296225 20220315 RGD human cell line in a mouse model 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma severity ISO RGD:1605385 D RGD:151665199|PMID:28856538 20220315 RGD human cell line in a mouse model 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2600 laryngeal carcinoma exacerbates ISO RGD:1605385 D RGD:151665191|PMID:32468011 20220315 RGD mRNA, protein:increased expression:larynx (human) 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2843 long QT syndrome ISO RGD:1605385 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1605385 D RGD:9068941 20220825 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1605385 D RGD:151665193|PMID:27590582 20220315 RGD human cell line in a mouse model 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1605385 D RGD:151665198|PMID:29944885 20220315 RGD circRNA:decreased expression:lung (human) 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605385 D RGD:151665200|PMID:32867711 20220315 RGD human cell line in a mouse model 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:4948 gallbladder carcinoma ameliorates ISO RGD:1605385 D RGD:151665192|PMID:30775814 20220315 RGD human cell line in a mouse model 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:630 genetic disease ISO RGD:1605385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621236 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552737 D RGD:151665344|PMID:32087767 20220328 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:737288 D RGD:5131112|PMID:21144722 20110420 RGD protein:increased expression:lung, macrophage (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050834 CHARGE syndrome ISO RGD:737288 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: CHARGE association 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050848 obstructive sleep apnea ISO RGD:737288 D RGD:5131433|PMID:19148690 20110427 RGD protein:increased expression:serum (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050855 renal fibrosis ISO RGD:734247 D RGD:7245536|PMID:10564241 20130610 RGD associated with Ureteral Obstruction 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050860 colorectal adenoma ISO RGD:737288 D RGD:13217413|PMID:23082052 20170912 RGD protein:increased expression:serum, colorectal mucosa, epithelial cell 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734247 D RGD:7394808|PMID:17389501 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis ISO RGD:737288 D RGD:7245572|PMID:10906156 20130611 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis severity ISO RGD:734247 D RGD:7245569|PMID:19201910 20130611 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080526 bronchiectasis 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080600 COVID-19 ISO RGD:737288 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737288 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080745 polymyositis severity ISO RGD:737288 D RGD:8661747|PMID:11055823 20140613 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:10199409|PMID:10902757|PMID:11175303|PMID:1144354|PMID:11443543|PMID:11700162|PMID:11722598|PMID:11817598|PMID:12209523|PMID:12352631|PMID:12520003|PMID:12905494|PMID:13130484|PMID:1402641|PMID:14610673|PMID:15216558|PMID:15228183|PMID:15280569|PMID:15312137|PMID:15492850|PMID:16199547|PMID:16508982|PMID:16635178|PMID:16684962|PMID:16707534|PMID:17576681|PMID:18180277|PMID:18408954|PMID:18512793|PMID:19541728|PMID:19917181|PMID:20457915|PMID:20532935|PMID:20576331|PMID:21029567|PMID:21113948|PMID:21420073|PMID:22311714|PMID:22343913|PMID:22566169|PMID:22801493|PMID:22918594|PMID:23117241|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24064022|PMID:24251727|PMID:24295430|PMID:24393624|PMID:25326637|PMID:25387410|PMID:25640679|PMID:25741868|PMID:25936627|PMID:26598380|PMID:27332769|PMID:28427379|PMID:28492532|PMID:29047407|PMID:31562507|PMID:32248184|PMID:32380704|PMID:32831641|PMID:7156325|PMID:9529351|PMID:9536098|PMID:9585614 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever susceptibility ISO RGD:737288 D RGD:7240710 20230517 OMIM 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0111621 Temtamy syndrome ISO RGD:737288 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10325 silicosis ISO RGD:734247 D RGD:5131150|PMID:11208652 20110420 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10457 Legionnaires' disease ISO RGD:734247 D RGD:5131445|PMID:18838275 20110427 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:734247 D RGD:13825267|PMID:17724122 20181205 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:13825249|PMID:20110607 20181203 RGD protein:increased expression:brain: 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:13825268|PMID:21978728 20181205 RGD protein:increased expression:cerebrospinal fluid: 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease no_association ISO RGD:737288 D RGD:13825266|PMID:17267158 20181205 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:5131206|PMID:21512145 20110425 RGD protein:increased expression:lung (mouse) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:734247 D RGD:5131145|PMID:21070800 20110420 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:737288 D RGD:5131096|PMID:21283009 20110420 RGD protein:increased expression:plasma (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy IEP D RGD:5130963|PMID:11240015 20110418 RGD protein:increased expression:dorsal root ganglia (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:734247 D RGD:5130898|PMID:9582261 20110413 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11832 visual epilepsy IDA D RGD:7245573|PMID:23333565 20130611 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1205 allergic disease ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:12236 primary biliary cholangitis ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:734247 D RGD:7245511|PMID:21221075 20130607 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13141 uveitis IMP D RGD:5131249|PMID:12824249 20110426 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:737288 D RGD:8661746|PMID:15746567 20140613 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13141 uveitis treatment ISO RGD:737288 D RGD:13825264|PMID:19440225 20181205 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:737288 D RGD:5131174|PMID:20646338 20110421 RGD DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13241 Behcet's disease ISO RGD:737288 D RGD:7401213|PMID:14600787 20131107 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13241 Behcet's disease ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1380 endometrial cancer ISO RGD:737288 D RGD:5131439|PMID:8920779 20110427 RGD protein:increased expression:serum (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:14550 root resorption IEP D RGD:13825431|PMID:22372265 20181205 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1485 cystic fibrosis ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1520 colon carcinoma ISO RGD:737288 D RGD:5131434|PMID:1655258 20110427 RGD protein:increased expression:serum (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1749 squamous cell carcinoma ISO RGD:734247 D RGD:8661739|PMID:15044707 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia IEP D RGD:13825263|PMID:11412877 20181205 RGD mRNA:increased expression:striatum,hippocampus: 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia treatment IEP D RGD:8661762|PMID:21868309 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2316 brain ischemia IDA D RGD:1624184|PMID:16442237 20070503 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2349 arteriosclerosis susceptibility ISO RGD:734247 D RGD:1624181|PMID:17442899 20070503 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2355 anemia ISO RGD:737288 D RGD:10450570|PMID:14613268 20160118 RGD associated with Arthritis, Rheumatoid 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19525953|PMID:24076602 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis ISO RGD:737288 D RGD:8661741|PMID:22801493 20140613 RGD DNA:SNP:intron: (rs1800693) (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737288 D RGD:7240710 20230517 OMIM 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2394 ovarian cancer disease_progression ISO RGD:737288 D RGD:2315115|PMID:19825522 20091218 RGD protein:increased expression:plasma 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2841 asthma ISO RGD:734247 D RGD:5131201|PMID:20484920 20110425 RGD protein:increased expression:lung (mouse) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis disease_progression ISO RGD:737288 D RGD:7245516|PMID:20525973 20130610 RGD protein:increased expression:urine 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis treatment ISO RGD:737288 D RGD:7245540|PMID:23400706 20130610 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis ISO RGD:737288 D RGD:6907414|PMID:16209246 20130611 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:737288 D RGD:6909132|PMID:9844059 20160118 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2987 familial Mediterranean fever ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:734247 D RGD:7245535|PMID:12023385 20130610 RGD associated with Endotoxemia 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:5128661|PMID:18074478 20130610 RGD associated with Acute Lung Injury 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:7245534|PMID:12500222 20130610 RGD associated with Shock, Septic;protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure susceptibility ISO RGD:734247 D RGD:7245548|PMID:21150875 20130610 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737288 D RGD:5131203|PMID:19643942 20110425 RGD protein:increased expression:plasma (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:326 ischemia IDA D RGD:1624195|PMID:14970118 20070503 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3355 fibrosarcoma ISO RGD:737288 D RGD:5131435|PMID:10753499 20110427 RGD human gene in mouse model 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3393 coronary artery disease severity ISO RGD:737288 D RGD:5131425|PMID:19845893 20110427 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3525 middle cerebral artery infarction IMP D RGD:13825261|PMID:15647744 20181205 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737288 D RGD:5131156|PMID:20824709 20110420 RGD protein:increased expression:serum (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737288 D RGD:5131202|PMID:20422457 20110425 RGD DNA:snp:5' utr:g.-329G>T rs4149570 (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:417 autoimmune disease ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21074606 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:4450 renal cell carcinoma ISO RGD:737288 D RGD:5131437|PMID:7912320 20110427 RGD protein:increased expression:serum (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5199 ureteral obstruction IEP D RGD:7245519|PMID:19541932 20130610 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5327 retinal detachment ISO RGD:734247 D RGD:5131257|PMID:21402953 20130711 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:552 pneumonia ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:557 kidney disease ISO RGD:737288 D RGD:10450570|PMID:14613268 20160118 RGD associated with Arthritis, Rheumatoid 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction IDA D RGD:1624194|PMID:15117889 20070503 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction IEP D RGD:5130892|PMID:21362018 20110413 RGD mRNA, protein:increased expression:left ventricle myocardium (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction IMP D RGD:5130975|PMID:20651834 20110418 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:6000 congestive heart failure ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:630 genetic disease ISO RGD:737288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443543|PMID:16508982|PMID:18512793|PMID:19917181|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24393624|PMID:25741868|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737288 D RGD:12904035|PMID:8548330 20170515 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:6543 acne ISO RGD:737288 D RGD:8661742|PMID:20556591 20140613 RGD DNA:SNP: :p,M196R (676T>G) (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737288 D RGD:12904065|PMID:25311255 20170516 RGD DNA:SNP:promoter:36G>A (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:783 end stage renal disease ISO RGD:737288 D RGD:7245510|PMID:22266663 20130607 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:841 extrinsic allergic alveolitis ISO RGD:737288 D RGD:5131148|PMID:15929959 20110420 RGD protein:increased expression:alveolar macrophage (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:874 bacterial pneumonia ISO RGD:734247 D RGD:5131429|PMID:19842848 20110427 RGD protein:increased expression:serum (mouse) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease IEP D RGD:5130893|PMID:21359923 20110413 RGD protein:increased expression:large intestine mucosa (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease treatment IEP D RGD:8661753|PMID:22531889 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:8893 psoriasis treatment ISO RGD:737288 D RGD:8661740|PMID:15998370 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000039 Spinal Cord Injuries IEP D RGD:1624185|PMID:16083358 20070503 RGD protein:increased expression:cerebrospinal fluid 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000099 Experimental Colitis treatment IMP D RGD:8661763|PMID:21296062 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000310 Lung Injury ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000641 Pain IEP D RGD:5130897|PMID:21248590 20110413 RGD protein:increased expression:dorsal root ganglion (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000972 Fever ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11175303 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000972 Fever ISO RGD:737288 D RGD:1624177|PMID:10902757 20070503 RGD autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000972 Fever susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S PMID:10902757|REF_RGD_ID:1624177 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries IEP D RGD:1624183|PMID:17074049 20070503 RGD protein:increased expression:brain 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001109 Anorexia ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18801959 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001472 Nasal Polyps ISO RGD:737288 D RGD:5131442|PMID:19095579 20110427 RGD mRNA:decreased expression:nasal polyp (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:734247 D RGD:5131157|PMID:17182684 20110420 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:737288 D RGD:5131432|PMID:19497758 20110427 RGD protein:increased expression:serum (human) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001553 Spinal Cord Compression IEP D RGD:5130917|PMID:21224756 20110414 RGD protein:increased expression:spinal cord (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001579 Neurogenic Inflammation IDA D RGD:7245573|PMID:23333565 20130611 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:8661760|PMID:23423194 20140613 RGD protein:increased localization:mitochondrion 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:2311357|PMID:19073786 20130611 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:7245547|PMID:22042131 20130610 RGD associated with Diabetes Mellitus, Type 2 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia IMP D RGD:5130913|PMID:12752784 20110414 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia IMP D RGD:8661750|PMID:22652595 20140613 RGD associated with Sciatic Neuropathy 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:734247 D RGD:5130939|PMID:21145890 20110415 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:734247 D RGD:8661726|PMID:20417692 20140612 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment IEP D RGD:8661737|PMID:24257399 20140613 RGD associated with Sciatic Neuropathy 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment IMP D RGD:8548873|PMID:21712071 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:7245941|PMID:23052485 20130612 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:8661761|PMID:21690068 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:734247 D RGD:8661729|PMID:20370892 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002992 Nematode Infections IEP D RGD:5130965|PMID:20695884 20110418 RGD mRNA:increased expression:liver (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:737288 D RGD:7245518|PMID:19690440 20130610 RGD protein:increased expression:serum, granulocyte 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9004009 Reperfusion Injury IEP D RGD:1624182|PMID:17109621 20070503 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737288 D RGD:8661764|PMID:21152182 20140616 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9004994 Embryo Loss ISO RGD:734247 D RGD:155663421|PMID:22972987 20221116 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9005532 Muscle Weakness ISO RGD:734247 D RGD:5130943|PMID:21097524 20110415 RGD Diaphragm Weakness 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5131250|PMID:21481476 20110426 RGD protein:increased expression:liver (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12193562 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734247 D RGD:7245543|PMID:22728466 20130610 RGD mRNA:increased expression:lung 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006549 Enterovirus Infections ISO RGD:734247 D RGD:5131210|PMID:19864593 20110425 RGD Rhinovirus Infections 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:734247 D RGD:8661744|PMID:19635911 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006646 Metabolic Syndrome ISO RGD:737288 D RGD:1624178|PMID:17200772 20070503 RGD associated with obesity;protein:increased expression:plasma 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007346 Cachexia IEP D RGD:1624190|PMID:16077938 20070503 RGD associated with Carcinoma, Hepatocellular;protein, mRNA:increased expression:skeletal muscle, adipose tissue 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18801959 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007417 Pseudomonas Infections ISO RGD:734247 D RGD:5131427|PMID:20448050 20110427 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007480 Hyperoxia ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:1580295|PMID:15164724 20181029 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007692 Insulin Resistance ISO RGD:737288 D RGD:1624180|PMID:11882518 20070503 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007956 Febrile Seizures ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737288 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007996 End Stage Liver Disease treatment IMP D RGD:8661754|PMID:23874752 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries IEP D RGD:7794683|PMID:18552980 20140612 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:734247 D RGD:8661743|PMID:14697498 20140613 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9008604 Radiation Pneumonitis ISO RGD:734247 D RGD:5131153|PMID:18347190 20110420 RGD 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9074 systemic lupus erythematosus severity ISO RGD:737288 D RGD:7245539|PMID:8393677 20130610 RGD protein:increased expression:serum 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9120 amyloidosis ISO RGD:737288 D RGD:10450570|PMID:14613268 20160118 RGD associated with Arthritis, Rheumatoid 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus IEP D RGD:5130987|PMID:20559450 20110419 RGD mRNA:increased expression:coronary artery (rat) 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737288 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 621237 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9970 obesity ISO RGD:737288 D RGD:1624179|PMID:12935365 20070503 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:1298224 D RGD:5131112|PMID:21144722 20110420 RGD protein:increased expression:lung, lymphocyte (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1298224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050851 glomerulosclerosis ISO RGD:731571 D RGD:7245475|PMID:23389459 20130605 RGD associated with Hypertension 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1298224 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:1298224 D RGD:7245541|PMID:22846145 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:731571 D RGD:7245544|PMID:22674120 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080745 polymyositis severity ISO RGD:1298224 D RGD:8661747|PMID:11055823 20140613 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080855 Parkinsonism treatment ISO RGD:1298224 D RGD:7247422|PMID:21831964 20130711 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10325 silicosis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10457 Legionnaires' disease ISO RGD:731571 D RGD:5131445|PMID:18838275 20110427 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10591 pre-eclampsia ISO RGD:1298224 D RGD:5131211|PMID:21505354 20110425 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:13825249|PMID:20110607 20181203 RGD protein:decreased expression:brain: 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:13825268|PMID:21978728 20181205 RGD protein:increased expression:cerebrospinal fluid: 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1074 kidney failure severity ISO RGD:1298224 D RGD:7245537|PMID:9650354 20130610 RGD associated with Neoplasms, Plasma Cell 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:1298224 D RGD:5131423|PMID:19916860 20110427 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:731571 D RGD:5131206|PMID:21512145 20110425 RGD protein:increased expression:lung (mouse) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:731571 D RGD:5131147|PMID:11159038 20110420 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11446 sciatic neuropathy IEP D RGD:5130963|PMID:11240015 20110418 RGD protein:increased expression:dorsal root ganglia (rat) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11476 osteoporosis ISO RGD:1298224 D RGD:1625350|PMID:17002564 20070604 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11832 visual epilepsy IDA D RGD:7245573|PMID:23333565 20130611 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1205 allergic disease ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:12849 autistic disorder ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16139734 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731571 D RGD:7245511|PMID:21221075 20130607 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:13406 pulmonary sarcoidosis ISO RGD:1298224 D RGD:5131275|PMID:21508170 20110426 RGD protein:increased expression:serum (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1380 endometrial cancer ISO RGD:1298224 D RGD:5131439|PMID:8920779 20110427 RGD protein:increased expression:serum (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:14069 cerebral malaria ISO RGD:731571 D RGD:5131158|PMID:12228317 20110421 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:14330 Parkinson's disease ISO RGD:731571 D RGD:5130931|PMID:19780901 20110414 RGD mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1520 colon carcinoma ISO RGD:1298224 D RGD:5131434|PMID:1655258 20110427 RGD protein:increased expression:serum (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2316 brain ischemia ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2394 ovarian cancer disease_progression ISO RGD:1298224 D RGD:2315115|PMID:19825522 20091218 RGD protein:increased expression:plasma 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:289 endometriosis ISO RGD:1298224 D RGD:5131251|PMID:21481092 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:289 endometriosis treatment ISO RGD:1298224 D RGD:7247423|PMID:21741153 20130711 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis ISO RGD:731571 D RGD:7245530|PMID:15841213 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis ISO RGD:731571 D RGD:7245546|PMID:22449555 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis treatment ISO RGD:1298224 D RGD:7245540|PMID:23400706 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis ISO RGD:1298224 D RGD:6907414|PMID:16209246 20130611 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1298224 D RGD:6909132|PMID:9844059 20160118 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:5128661|PMID:18074478 20130610 RGD associated with Acute Lung Injury 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:7245534|PMID:12500222 20130610 RGD associated with Shock, Septic;protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:731571 D RGD:7245532|PMID:12865254 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1298224 D RGD:5131154|PMID:21037022 20110420 RGD protein:increased expression:sputum (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:399 tuberculosis ISO RGD:1298224 D RGD:5131209|PMID:20007930 20110425 RGD DNA:snp:3' utr:g.*215C>T rs3397 (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:4450 renal cell carcinoma ISO RGD:1298224 D RGD:7245512|PMID:20566746 20130607 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5082 liver cirrhosis ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction IEP D RGD:7245519|PMID:19541932 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:731571 D RGD:7245536|PMID:10564241 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5327 retinal detachment ISO RGD:731571 D RGD:5131257|PMID:21402953 20110426 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:5131448|PMID:18664626 20110427 RGD Idiopathic Pneumonia Syndrome 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:552 pneumonia susceptibility ISO RGD:1298224 D RGD:5131286|PMID:20811626 20110426 RGD associated with Carcinoma, Non-Small-Cell Lung; DNA:snp:cds:p.M196R rs1061622 (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5844 myocardial infarction IEP D RGD:5130892|PMID:21362018 20110413 RGD mRNA, protein:decreased expression:left ventricle myocardium (rat) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:6000 congestive heart failure ISO RGD:1298224 D RGD:5131262|PMID:21135513 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:630 genetic disease ISO RGD:1298224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1298224 D RGD:12904035|PMID:8548330 20170515 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:6543 acne susceptibility ISO RGD:1298224 D RGD:8553023|PMID:20861605 20140505 RGD DNA:polymorphism:cds:p.M196R(human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:7147 ankylosing spondylitis ISO RGD:1298224 D RGD:5131280|PMID:21317434 20110426 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:783 end stage renal disease ISO RGD:1298224 D RGD:7245510|PMID:22266663 20130607 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:841 extrinsic allergic alveolitis ISO RGD:1298224 D RGD:5131148|PMID:15929959 20110420 RGD protein:increased expression:alveolar macrophage (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:8541 Sezary's disease ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:8691 mycosis fungoides ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:874 bacterial pneumonia ISO RGD:731571 D RGD:5131429|PMID:19842848 20110427 RGD protein:increased expression:serum (mouse) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:8778 Crohn's disease IEP D RGD:5130893|PMID:21359923 20110413 RGD protein:increased expression:large intestine mucosa (rat) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9000053 Headache ISO RGD:1298224 D RGD:5131274|PMID:21036476 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9000169 Systemic Inflammatory Response Syndrome IEP D RGD:5130879|PMID:21195213 20110426 RGD mRNA, protein:increased expression:carotid body, jugular ganglion, nodose ganglion (rat) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001472 Nasal Polyps ISO RGD:1298224 D RGD:5131442|PMID:19095579 20110427 RGD mRNA:decreased expression:nasal polyp (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression IEP D RGD:5130917|PMID:21224756 20110414 RGD protein:increased expression:spinal cord (rat) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:1298224 D RGD:5130917|PMID:21224756 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001579 Neurogenic Inflammation IDA D RGD:7245573|PMID:23333565 20130611 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001916 Fetal Death ISO RGD:1298224 D RGD:5131261|PMID:21187445 20110426 RGD associated with Endotoxemia; human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:2311357|PMID:19073786 20130611 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:7245529|PMID:16408124 20130610 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:1298224 D RGD:7245476|PMID:22266664 20130605 RGD associated with Diabetes Mellitus, Type 1 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia IMP D RGD:8661750|PMID:22652595 20140613 RGD associated with Sciatic Neuropathy 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:731571 D RGD:5130960|PMID:18463260 20110418 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis ISO RGD:1298224 D RGD:5131255|PMID:21463515 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:7245941|PMID:23052485 20130612 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:8661761|PMID:21690068 20140613 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002589 Bone Fractures ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15071724 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1298224 D RGD:7245518|PMID:19690440 20130610 RGD protein:increased expression:serum, granulocyte 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection IEP D RGD:7245520|PMID:19298452 20130610 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9005372 Inflammation ISO RGD:1298224 D RGD:5131265|PMID:21081778 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1298224 D RGD:5131250|PMID:21481476 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1298224 D RGD:5131270|PMID:21057386 20110426 RGD human protein in rat model 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9006617 Fatigue ISO RGD:1298224 D RGD:8661748|PMID:12140350 20140613 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9007194 Sciatica treatment IDA D RGD:7245944|PMID:22425187 20130612 RGD 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9007271 Hypoalbuminemia ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:1580295|PMID:15164724 20181029 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9008569 Bronchial Spasm ISO RGD:1298224 D RGD:5131441|PMID:19340514 20110427 RGD associated with Arthritis, Rheumatoid 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1298224 D RGD:7245571|PMID:11607787 20130611 RGD DNA:missense mutation:cds:p.M196R (human) 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1298224 D RGD:7245539|PMID:8393677 20130610 RGD protein:increased expression:serum 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 621238 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9970 obesity ISO RGD:1298224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1350040 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0050753 cerebellar ataxia ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:24986921|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32581362|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0060067 Pearson syndrome ISO RGD:1350040 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Pearson syndrome 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1350040 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:19188198|PMID:26803244 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1350040 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:18495510 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 ISO RGD:1350040 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 PMID:25037980|PMID:27812026|PMID:29350304 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111273 NARP syndrome ISO RGD:1350040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27129022 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111273 NARP syndrome ISO RGD:1350040 D RGD:13825442|PMID:11843698 20110912 RGD DNA:missense mutation:cds:m.8993T>G, p.L156R (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111273 NARP syndrome ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NARP syndrome PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:17452590|PMID:18055910|PMID:19124644|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:3612192|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9568930|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 ISO RGD:1350040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111750 adult-onset ataxia and polyneuropathy ISO RGD:1350040 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset PMID:11916326|PMID:16049925|PMID:18055910|PMID:25741868|PMID:32906214|PMID:3612192|PMID:8190310|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9568930|PMID:9762610 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:0111753 infantile hypertrophic cardiomyopathy ISO RGD:1350040 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic PMID:19188198|PMID:26803244 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1350040 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16217706|PMID:17352390|PMID:18461509|PMID:22933740|PMID:25741868 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:10603 glucose intolerance ISO RGD:1350040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18273840 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350040 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1350040 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1350040 D RGD:5490292|PMID:12618962 20110913 RGD DNA:SNP:cds:m.9055A>G (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:1350040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22577227|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22577227|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:1891 optic nerve disease ISO RGD:1350040 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:28027978 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:2377 multiple sclerosis ISO RGD:1350040 D RGD:5490259|PMID:18708297 20110909 RGD DNA:transition:cds:m.9055A>G (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:2377 multiple sclerosis ISO RGD:1350040 D RGD:5490263|PMID:17619138 20110912 RGD DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3650 lactic acidosis ISO RGD:1350040 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Seizures and lactic acidosis PMID:12915481|PMID:8739943 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3652 Leigh disease ISO RGD:1350040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14697245|PMID:14998933|PMID:15120634|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16050984|PMID:16217706|PMID:17123466|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18216301|PMID:18461509|PMID:18495510|PMID:18682780|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20211276|PMID:20301353|PMID:2137962|PMID:22110754|PMID:22231385|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:23266623|PMID:23304069|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24986921|PMID:25489354|PMID:25741868|PMID:26633545|PMID:26993169|PMID:28027978|PMID:29307858|PMID:30143805|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:3612192|PMID:7668837|PMID:7726182|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8630495|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3652 Leigh disease ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14697245|PMID:14998933|PMID:15120634|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16050984|PMID:16217706|PMID:17123466|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18216301|PMID:18461509|PMID:18495510|PMID:18682780|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:20211276|PMID:20301353|PMID:2137962|PMID:22110754|PMID:22231385|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:23266623|PMID:23304069|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24316278|PMID:24986921|PMID:25489354|PMID:25741868|PMID:26633545|PMID:26993169|PMID:28027978|PMID:29307858|PMID:30143805|PMID:31181185|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:7726182|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8630495|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:3687 MELAS syndrome ISO RGD:1350040 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25037980|PMID:27812026|PMID:29350304 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1350040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19667215|PMID:20301382|PMID:2137962|PMID:22789932|PMID:22933740|PMID:23206802|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24316278|PMID:24986921|PMID:25489354|PMID:25741868|PMID:26633545|PMID:28027978|PMID:31181185|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:3612192|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9568930|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:12915481|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19188198|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:20301382|PMID:2137962|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:24002810|PMID:24088041|PMID:24104924|PMID:24118886|PMID:24316278|PMID:24986921|PMID:25037980|PMID:25489354|PMID:25741868|PMID:26633545|PMID:26803244|PMID:27812026|PMID:28027978|PMID:29350304|PMID:31181185|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32461654|PMID:32581362|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8644724|PMID:8739943|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350040 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350040 D RGD:5508187|PMID:20454697 20111006 RGD DNA:transition:CDS:c.8668T>C, p.W48R (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:12915481|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:17663470|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:20301353|PMID:2137962|PMID:22577227|PMID:22789932|PMID:22933740|PMID:23206802|PMID:24002810|PMID:24088041|PMID:25037980|PMID:25741868|PMID:26633545|PMID:27812026|PMID:29350304|PMID:30143805|PMID:31181185|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:7726182|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8554662|PMID:8602753|PMID:8644724|PMID:8739943|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:705 Leber hereditary optic neuropathy susceptibility ISO RGD:1350040 D RGD:5490293|PMID:19026397 20110913 RGD DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000040 Hypertrophy ISO RGD:1350040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18273840 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11119722|PMID:11245730|PMID:11371515|PMID:11382202|PMID:11730668|PMID:11731285|PMID:11751691|PMID:11843698|PMID:11916326|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:16049925|PMID:16217706|PMID:17352390|PMID:17452590|PMID:18055910|PMID:18461509|PMID:19160410|PMID:19454486|PMID:19626676|PMID:19667215|PMID:20056103|PMID:2137962|PMID:22577227|PMID:22933740|PMID:24088041|PMID:25741868|PMID:26633545|PMID:31187502|PMID:31379041|PMID:31461494|PMID:32042921|PMID:32313153|PMID:32906214|PMID:35159298|PMID:3612192|PMID:7668837|PMID:8042671|PMID:8095070|PMID:8190310|PMID:8250532|PMID:8395787|PMID:8602753|PMID:8644724|PMID:8750605|PMID:9199572|PMID:9270604|PMID:9329425|PMID:9501263|PMID:9556461|PMID:9568930|PMID:9631394|PMID:9762610|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27129022 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:5490262|PMID:18461509 20110912 RGD DNA:point mutation: :m.9185T>C (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:5490270|PMID:15709156 20110913 RGD DNA:point mutation: :m.9176T>C (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9000973 Maternally Inherited Leigh Syndrome ISO RGD:1350040 D RGD:5490291|PMID:14598233 20110913 RGD DNA:transversion: :m.8993T>G (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9001276 Failure to Thrive ISO RGD:1350040 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9003133 Hypertelorism ISO RGD:1350040 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9003507 Premature Birth ISO RGD:1350040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Premature birth PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:11076946|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:1436530|PMID:14998933|PMID:1539598|PMID:1550128|PMID:17452590|PMID:19667215|PMID:2137962|PMID:24088041|PMID:25741868|PMID:26633545|PMID:32313153|PMID:32906214|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:9199572|PMID:9329425|PMID:9556461|PMID:9883875 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:5490294|PMID:20450733 20110913 RGD 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9004866 Ataxia ISO RGD:1350040 D RGD:5490257|PMID:19626676 20110909 RGD DNA:point mutation: :m.9035T>C (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9007503 Striatonigral Degeneration, Infantile, Mitochondrial ISO RGD:1350040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial PMID:17663470|PMID:19160410|PMID:20056103|PMID:22789932|PMID:23206802|PMID:24002810|PMID:25741868|PMID:31181185|PMID:7668837|PMID:8554662|PMID:9270604|PMID:9501263|PMID:9631394 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1350040 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9008137 Apical Hypertrophic Cardiomyopathy and Neuropathy ISO RGD:1350040 D RGD:8554872 20161206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy PMID:21686774 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1350040 D RGD:5490259|PMID:18708297 20110909 RGD DNA:transition:cds:m.9055A>G (human) 621239 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 gene DOID:9351 diabetes mellitus ISO RGD:1350040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18273840 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0060067 Pearson syndrome ISO RGD:1344922 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Pearson syndrome 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1344922 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:19188198|PMID:26803244 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1344922 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:0111753 infantile hypertrophic cardiomyopathy ISO RGD:1344922 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic PMID:19188198|PMID:26803244 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:10952 nephritis susceptibility ISO RGD:735408 D RGD:5490297|PMID:19759059 20110913 RGD DNA:transversion: :m.7778G>T (mouse) 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:11054 urinary bladder cancer ISO RGD:1344922 D RGD:2302294|PMID:15254717 20081210 RGD DNA:deletion: :(human) 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:1344922 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1344922 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:1891 optic nerve disease ISO RGD:1344922 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:28027978 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:2377 multiple sclerosis ISO RGD:1344922 D RGD:5490263|PMID:17619138 20110912 RGD DNA:point mutation: :m.8406C>T (human) 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:3652 Leigh disease ISO RGD:1344922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11062027|PMID:14697245|PMID:17101920|PMID:1757091|PMID:18682780|PMID:20207608|PMID:24153443|PMID:25741868|PMID:25941154|PMID:26993169|PMID:7633428|PMID:9243242 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:4989 pancreatitis susceptibility ISO RGD:735408 D RGD:5490297|PMID:19759059 20110913 RGD DNA:transversion: :m.7778G>T (mouse) 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344922 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:19188198|PMID:20301382|PMID:26803244 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9001276 Failure to Thrive ISO RGD:1344922 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9002457 Experimental Arthritis susceptibility ISO RGD:735408 D RGD:5490297|PMID:19759059 20110913 RGD DNA:transversion: :m.7778G>T (mouse) 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9004009 Reperfusion Injury IEP D RGD:5490294|PMID:20450733 20110913 RGD 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9004590 Acute Liver Failure disease_progression ISO RGD:735408 D RGD:5490296|PMID:21167184 20110913 RGD associated with Endotoxemia 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344922 D RGD:8554872 20151110 ClinVar ClinVar Annotator: match by term: Brain pseudoatrophy, reversible, valproate-induced, susceptibility to PMID:17101920|PMID:9243242 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9008137 Apical Hypertrophic Cardiomyopathy and Neuropathy ISO RGD:1344922 D RGD:8554872 20161206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy PMID:21686774 621240 Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:735408 D RGD:5490297|PMID:19759059 20110913 RGD DNA:transversion: :m.7778G>T (mouse) 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:0080600 COVID-19 ISO RGD:736845 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:10652 Alzheimer's disease ISO RGD:736845 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:10652 Alzheimer's disease ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:11832 visual epilepsy IEP D RGD:1566572|PMID:12379262 20141209 RGD mRNA:increased expression:hippocampus, temporal lobe 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:224 transient cerebral ischemia IEP D RGD:9681747|PMID:16630594 20141208 RGD mRNA, protein:increased expression:brain 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:2316 brain ischemia IEP D RGD:9681750|PMID:17073862 20141208 RGD mRNA:increased expression:brain 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19027488 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:5199 ureteral obstruction IEP D RGD:9681748|PMID:17583485 20141208 RGD 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:5200 urinary tract obstruction ISS RGD:733905 D RGD:13592920 20180518 MouseDO 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:736845 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:5844 myocardial infarction IEP D RGD:9681751|PMID:15625312 20141208 RGD 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:630 genetic disease ISO RGD:736845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:5037239|PMID:11311987 20141208 RGD mRNA:increased expression:hypoglossal nerve 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736845 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:9005930 Endotoxemia IEP D RGD:9681752|PMID:23025351 20141208 RGD protein:increased expression:plasma, spleen 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9684850|PMID:18272597 20141209 RGD 621241 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1346398 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:224 transient cerebral ischemia IEP D RGD:9681747|PMID:16630594 20150514 RGD 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:630 genetic disease ISO RGD:1346398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346398 D RGD:10043106|PMID:11801682 20150513 RGD mRNA:increased expression:synovium 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:8398 osteoarthritis treatment ISO RGD:1550099 D RGD:10043110|PMID:22432033 20150513 RGD associated with Bone Diseases, Metabolic 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:90 degenerative disc disease IEP D RGD:10043115|PMID:22394620 20150514 RGD 621242 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346398 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732096 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:10283 prostate cancer ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:630 genetic disease ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:670 amphetamine abuse ISO RGD:732096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17582620 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:7240710 20190315 OMIM 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine PMID:16199547|PMID:17576681|PMID:23265383|PMID:25741868|PMID:27481395|PMID:27773429|PMID:28492532|PMID:29190063|PMID:32712301|PMID:9536098 621243 Slc6a9 solute carrier family 6 member 9 gene DOID:9268 glycine encephalopathy ISS RGD:732097 D RGD:13592920 20180518 MouseDO OMIM:605899 621244 Ubc ubiquitin C gene DOID:0080600 COVID-19 ISO RGD:1346853 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 621244 Ubc ubiquitin C gene DOID:630 genetic disease ISO RGD:1346853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621245 Plaa phospholipase A2, activating protein gene DOID:0090020 split hand-foot malformation ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 621245 Plaa phospholipase A2, activating protein gene DOID:630 genetic disease ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 621245 Plaa phospholipase A2, activating protein gene DOID:9005372 Inflammation ISO RGD:737277 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11094054 621245 Plaa phospholipase A2, activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:7240710 20190315 OMIM 621245 Plaa phospholipase A2, activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:28007986|PMID:28413018|PMID:28492532|PMID:31322726 621246 Top1 DNA topoisomerase I gene DOID:0060041 autism spectrum disorder ISO RGD:733198 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 621246 Top1 DNA topoisomerase I gene DOID:14566 disease of cellular proliferation ISO RGD:733198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11598410 621246 Top1 DNA topoisomerase I gene DOID:2234 focal epilepsy ISO RGD:733198 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621246 Top1 DNA topoisomerase I gene DOID:630 genetic disease ISO RGD:733198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621246 Top1 DNA topoisomerase I gene DOID:9000918 Disease Progression ISO RGD:733198 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 621246 Top1 DNA topoisomerase I gene DOID:9002801 Recurrence ISO RGD:733198 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 621246 Top1 DNA topoisomerase I gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 621246 Top1 DNA topoisomerase I gene DOID:9007188 Liver Neoplasms ISO RGD:733198 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 621247 Rplp0 ribosomal protein lateral stalk subunit P0 gene DOID:14250 Down syndrome IEP D RGD:11039463|PMID:25261685 20160304 RGD protein:increased expression:brain 621247 Rplp0 ribosomal protein lateral stalk subunit P0 gene DOID:630 genetic disease ISO RGD:1344368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736015 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:736015 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:12849 autistic disorder ISO RGD:736015 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:5419 schizophrenia ISO RGD:736015 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736015 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:6000 congestive heart failure ISO RGD:736015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:630 genetic disease ISO RGD:736015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:7240710 20141015 OMIM 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency PMID:25741868|PMID:28492532 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736015 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:1552388 D RGD:329333017|PMID:29684438 20230426 RGD mRNA:increased expression:liver (mouse) 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:736015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9007692 Insulin Resistance IDA D RGD:1625727|PMID:16485039 20070628 RGD 621248 Acaca acetyl-CoA carboxylase alpha gene DOID:9452 fatty liver disease IDA D RGD:1625727|PMID:16485039 20070628 RGD 621249 Gripap1 GRIP1 associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732724 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621249 Gripap1 GRIP1 associated protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732724 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 621249 Gripap1 GRIP1 associated protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 621249 Gripap1 GRIP1 associated protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732724 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 621249 Gripap1 GRIP1 associated protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 621249 Gripap1 GRIP1 associated protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 621249 Gripap1 GRIP1 associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732724 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621249 Gripap1 GRIP1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 621249 Gripap1 GRIP1 associated protein 1 gene DOID:630 genetic disease ISO RGD:732724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 621249 Gripap1 GRIP1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732724 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621250 Gata3 GATA binding protein 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 621250 Gata3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20006695 621250 Gata3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:7240710 20130221 OMIM 621250 Gata3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:10935639|PMID:11389161|PMID:14985365|PMID:15705923|PMID:16199547|PMID:16912130|PMID:17210674|PMID:17309062|PMID:17576681|PMID:18621058|PMID:19057839|PMID:19248180|PMID:19253381|PMID:21120445|PMID:21242646|PMID:21834031|PMID:23052618|PMID:23142663|PMID:23435732|PMID:24033266|PMID:24728327|PMID:25137426|PMID:25741868|PMID:25741912|PMID:26282285|PMID:26316437|PMID:26467025|PMID:26514990|PMID:27387476|PMID:28492532|PMID:28566604|PMID:30143558|PMID:30311386|PMID:30396722|PMID:30534854|PMID:31433868|PMID:32442337|PMID:33120464|PMID:35802133|PMID:36633841|PMID:9536098 621250 Gata3 GATA binding protein 3 gene DOID:0080205 CAKUT ISO RGD:733638 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 621250 Gata3 GATA binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:733638 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621250 Gata3 GATA binding protein 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 621250 Gata3 GATA binding protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:733638 D RGD:1358706|PMID:10935639 20070201 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 621250 Gata3 GATA binding protein 3 gene DOID:11199 hypoparathyroidism ISO RGD:733638 D RGD:1358706|PMID:10935639 20070201 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 621250 Gata3 GATA binding protein 3 gene DOID:2527 nephrosis ISO RGD:733638 D RGD:1358706|PMID:10935639 20070201 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 621250 Gata3 GATA binding protein 3 gene DOID:2841 asthma IEP D RGD:5128803|PMID:18186587 20110317 RGD 621250 Gata3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:733638 D RGD:5128802|PMID:9949310 20110317 RGD 621250 Gata3 GATA binding protein 3 gene DOID:305 carcinoma ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621250 Gata3 GATA binding protein 3 gene DOID:630 genetic disease ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26514990|PMID:27387476|PMID:28492532 621250 Gata3 GATA binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 621250 Gata3 GATA binding protein 3 gene DOID:769 neuroblastoma ISO RGD:733638 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 621250 Gata3 GATA binding protein 3 gene DOID:783 end stage renal disease ISO RGD:733638 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:26970513 621250 Gata3 GATA binding protein 3 gene DOID:783 end stage renal disease ISO RGD:733638 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 621250 Gata3 GATA binding protein 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 621250 Gata3 GATA binding protein 3 gene DOID:9000156 Metaplasia ISO RGD:733638 D RGD:11554173 20171114 CTD CTD Direct Evidence: therapeutic PMID:27315767 621250 Gata3 GATA binding protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621250 Gata3 GATA binding protein 3 gene DOID:9000772 Bronchial Hyperreactivity IEP D RGD:5128801|PMID:20118299 20110317 RGD 621250 Gata3 GATA binding protein 3 gene DOID:9001371 Eosinophilia ISO RGD:733638 D RGD:11554173 20171114 CTD CTD Direct Evidence: therapeutic PMID:27315767 621250 Gata3 GATA binding protein 3 gene DOID:9002605 Delayed Hypersensitivity IEP D RGD:2314191|PMID:16336837 20091104 RGD mRNA, protein:increased expression:spleen 621250 Gata3 GATA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733638 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741912 621250 Gata3 GATA binding protein 3 gene DOID:9004484 Sepsis severity ISO RGD:733638 D RGD:38455982|PMID:25403265 20200806 RGD 621250 Gata3 GATA binding protein 3 gene DOID:9004538 Hearing Loss ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 621250 Gata3 GATA binding protein 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621250 Gata3 GATA binding protein 3 gene DOID:9005372 Inflammation ISO RGD:733638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 621250 Gata3 GATA binding protein 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733638 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 621250 Gata3 GATA binding protein 3 gene DOID:9007702 Carcinogenesis ISO RGD:733638 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 621250 Gata3 GATA binding protein 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733638 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 621251 Cd93 CD93 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1351917 D RGD:151665104|PMID:32626543 20220310 RGD 621251 Cd93 CD93 molecule gene DOID:630 genetic disease ISO RGD:1351917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621252 Mt3 metallothionein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621252 Mt3 metallothionein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621252 Mt3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:1553329 D RGD:6480619|PMID:16444595 20120328 RGD 621252 Mt3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:6480485|PMID:1464312 20120326 RGD mRNA:decreased expression:brain 621252 Mt3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:6480534|PMID:19619132 20120327 RGD 621252 Mt3 metallothionein 3 gene DOID:10652 Alzheimer's disease ISO RGD:730879 D RGD:9685805|PMID:10595827 20150127 RGD mRNA:increased expression:brain 621252 Mt3 metallothionein 3 gene DOID:11054 urinary bladder cancer ISO RGD:730879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16854967 621252 Mt3 metallothionein 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 621252 Mt3 metallothionein 3 gene DOID:11832 visual epilepsy treatment IEP D RGD:9685809|PMID:23266720 20150127 RGD 621252 Mt3 metallothionein 3 gene DOID:1459 hypothyroidism IEP D RGD:9685800|PMID:10407136 20150127 RGD mRNA:increased expression:brain 621252 Mt3 metallothionein 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621252 Mt3 metallothionein 3 gene DOID:224 transient cerebral ischemia IEP D RGD:9685804|PMID:10069533 20150127 RGD mRNA, protein:increased expression:brain 621252 Mt3 metallothionein 3 gene DOID:231 motor neuron disease IMP D RGD:6480623|PMID:16382788 20120328 RGD 621252 Mt3 metallothionein 3 gene DOID:2468 psychotic disorder ISO RGD:730879 D RGD:6480540|PMID:18992145 20120327 RGD mRNA: increased expression: brain 621252 Mt3 metallothionein 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1553329 D RGD:6480495|PMID:17097207 20120326 RGD 621252 Mt3 metallothionein 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1553329 D RGD:6480627|PMID:12388585 20120328 RGD 621252 Mt3 metallothionein 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730879 D RGD:6480625|PMID:12417341 20120328 RGD 621252 Mt3 metallothionein 3 gene DOID:3525 middle cerebral artery infarction IEP D RGD:9685807|PMID:8869568 20150127 RGD protein:decreased expression:brain 621252 Mt3 metallothionein 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 621252 Mt3 metallothionein 3 gene DOID:4752 multiple system atrophy ISO RGD:730879 D RGD:6480516|PMID:20039155 20120327 RGD protein: increased expression: visual cortex 621252 Mt3 metallothionein 3 gene DOID:5154 borna disease IEP D RGD:2289373|PMID:16612977 20120328 RGD 621252 Mt3 metallothionein 3 gene DOID:571 median neuropathy treatment IEP D RGD:6483815|PMID:22253198 20151118 RGD 621252 Mt3 metallothionein 3 gene DOID:630 genetic disease ISO RGD:730879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621252 Mt3 metallothionein 3 gene DOID:8466 retinal degeneration ISO RGD:1553329 D RGD:10412646|PMID:23132798 20151118 RGD mRNA:increased expression:retina 621252 Mt3 metallothionein 3 gene DOID:9000998 Brain Injuries IEP D RGD:9685803|PMID:10218634 20150127 RGD 621252 Mt3 metallothionein 3 gene DOID:9000998 Brain Injuries IEP D RGD:9685805|PMID:10595827 20151117 RGD 621252 Mt3 metallothionein 3 gene DOID:9000998 Brain Injuries treatment IDA D RGD:6480628|PMID:16314047 20120328 RGD 621252 Mt3 metallothionein 3 gene DOID:9001191 Cadmium Poisoning ISO RGD:1553329 D RGD:6480494|PMID:20371971 20120326 RGD 621252 Mt3 metallothionein 3 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1553329 D RGD:6480520|PMID:19799968 20120327 RGD 621252 Mt3 metallothionein 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553329 D RGD:6484112|PMID:19619133 20120606 RGD mRNA:increased expression:brain (mouse) 621252 Mt3 metallothionein 3 gene DOID:9004001 Facial Nerve Injuries treatment IDA D RGD:9685806|PMID:14625437 20150127 RGD 621252 Mt3 metallothionein 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1553329 D RGD:6480529|PMID:19635467 20120327 RGD 621252 Mt3 metallothionein 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23794209 621252 Mt3 metallothionein 3 gene DOID:9005930 Endotoxemia IEP D RGD:10412330|PMID:12135776 20151117 RGD 621252 Mt3 metallothionein 3 gene DOID:9007480 Hyperoxia IEP D RGD:9686051|PMID:15680347 20150128 RGD 621252 Mt3 metallothionein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:730879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21170156 621252 Mt3 metallothionein 3 gene DOID:9970 obesity ISO RGD:1553329 D RGD:6480475|PMID:21726645 20120323 RGD 621253 Fap fibroblast activation protein, alpha gene DOID:12849 autistic disorder ISO RGD:732069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 621253 Fap fibroblast activation protein, alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732069 D RGD:152600903|PMID:24789592 20220525 RGD protein:increased expression: esophagus 621253 Fap fibroblast activation protein, alpha gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:732069 D RGD:152600901|PMID:26252379 20220525 RGD 621253 Fap fibroblast activation protein, alpha gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732069 D RGD:152600902|PMID:29415055 20220525 RGD 621253 Fap fibroblast activation protein, alpha gene DOID:630 genetic disease ISO RGD:732069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621254 Fat1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732532 D RGD:151347668|PMID:30624777 20220131 RGD protein:increased expression:tongue (mouse) 621254 Fat1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma onset ISO RGD:732531 D RGD:151347687|PMID:28435450 20220201 RGD DNA:mutations:multiple 621254 Fat1 FAT atypical cadherin 1 gene DOID:0060673 Peters anomaly ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 621254 Fat1 FAT atypical cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 621254 Fat1 FAT atypical cadherin 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732531 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome 621254 Fat1 FAT atypical cadherin 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISS RGD:732532 D RGD:13592920 20180518 MouseDO OMIM:158900 | OMIM:158901 621254 Fat1 FAT atypical cadherin 1 gene DOID:1184 nephrotic syndrome ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26905694|PMID:28492532 621254 Fat1 FAT atypical cadherin 1 gene DOID:1184 nephrotic syndrome ISS RGD:732532 D RGD:13592920 20180628 MouseDO 621254 Fat1 FAT atypical cadherin 1 gene DOID:12849 autistic disorder ISO RGD:732531 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621254 Fat1 FAT atypical cadherin 1 gene DOID:1324 lung cancer ISO RGD:732531 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 621254 Fat1 FAT atypical cadherin 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532 621254 Fat1 FAT atypical cadherin 1 gene DOID:2229 factor XI deficiency ISO RGD:732531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 621254 Fat1 FAT atypical cadherin 1 gene DOID:3068 glioblastoma ISO RGD:732531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 621254 Fat1 FAT atypical cadherin 1 gene DOID:3151 skin squamous cell carcinoma disease_progression ISO RGD:732532 D RGD:151347447|PMID:33328637 20220125 RGD associated with Neoplasm Metastasis 621254 Fat1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 621254 Fat1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:151347630|PMID:24590895 20220131 RGD 621254 Fat1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:151347646|PMID:29365412 20220131 RGD protein:decreased expression:esophagus squamous epithelium (human) 621254 Fat1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732531 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34390292 621254 Fat1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732531 D RGD:151347689|PMID:31085721 20220201 RGD 621254 Fat1 FAT atypical cadherin 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732531 D RGD:150429733|PMID:31199602 20220201 RGD DNA:mutations:multiple (human) 621254 Fat1 FAT atypical cadherin 1 gene DOID:630 genetic disease ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621254 Fat1 FAT atypical cadherin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732531 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:24590895|REF_RGD_ID:151347630 621254 Fat1 FAT atypical cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:732531 D RGD:11554173 20220405 CTD CTD Direct Evidence: therapeutic PMID:34390292 621254 Fat1 FAT atypical cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621254 Fat1 FAT atypical cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 621254 Fat1 FAT atypical cadherin 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 621254 Fat1 FAT atypical cadherin 1 gene DOID:9006836 Contracture ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:26489027|PMID:28492532 621254 Fat1 FAT atypical cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 621254 Fat1 FAT atypical cadherin 1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 621254 Fat1 FAT atypical cadherin 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732531 D RGD:150539450|PMID:33106877 20220201 RGD left-sided colorectal cancer;DNA:mutations:multiple (human) 621254 Fat1 FAT atypical cadherin 1 gene DOID:9538 multiple myeloma ISO RGD:732531 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:1790 malignant mesothelioma ISO RGD:732767 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:630 genetic disease ISO RGD:732767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33199684 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:8692 myeloid leukemia ISO RGD:732767 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:7240710 20210217 OMIM 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lessel-Kreienkamp syndrome PMID:25741868|PMID:33199684 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621255 Ago2 argonaute RISC catalytic component 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732767 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 621256 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:305 carcinoma ISO RGD:731642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621256 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:731642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621256 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621256 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621256 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731642 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:0050439 Usher syndrome ISO RGD:1606267 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606267 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606267 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606267 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:670 amphetamine abuse ISO RGD:1606267 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1606267 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 621257 Mtarc2 mitochondrial amidoxime reducing component 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606267 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621258 Kif11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:7240710 20171011 OMIM 621258 Kif11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphedema, microcephaly and chorioretinopathy syndrome | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:15930898|PMID:17576681|PMID:22284827|PMID:22653704|PMID:24281367|PMID:25115524|PMID:25124931|PMID:25741868|PMID:25934493|PMID:26472404|PMID:26566857|PMID:27212378|PMID:28492532|PMID:30452590|PMID:30792901|PMID:31077665|PMID:31130284|PMID:32214227|PMID:33137195|PMID:33619735|PMID:34128965|PMID:9536098 621258 Kif11 kinesin family member 11 gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:1346274 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 621258 Kif11 kinesin family member 11 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1346274 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 PMID:25741868 621258 Kif11 kinesin family member 11 gene DOID:0080600 COVID-19 ISO RGD:1346274 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621258 Kif11 kinesin family member 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:25741868|PMID:32214227 621258 Kif11 kinesin family member 11 gene DOID:1059 intellectual disability ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 621258 Kif11 kinesin family member 11 gene DOID:10907 microcephaly ISO RGD:1346274 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 621258 Kif11 kinesin family member 11 gene DOID:1227 neutropenia ISO RGD:1346274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532 621258 Kif11 kinesin family member 11 gene DOID:2843 long QT syndrome ISO RGD:1346274 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 621258 Kif11 kinesin family member 11 gene DOID:630 genetic disease ISO RGD:1346274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930898|PMID:17576681|PMID:22284827|PMID:25741868|PMID:25934493|PMID:28492532|PMID:9536098 621258 Kif11 kinesin family member 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1346274 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621258 Kif11 kinesin family member 11 gene DOID:8501 fundus dystrophy ISO RGD:1346274 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30452590 621258 Kif11 kinesin family member 11 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 621258 Kif11 kinesin family member 11 gene DOID:9003882 Chromosomal Instability ISO RGD:1346274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 621258 Kif11 kinesin family member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621258 Kif11 kinesin family member 11 gene DOID:9008582 Developmental Disease ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 621258 Kif11 kinesin family member 11 gene DOID:9008692 Aneuploidy ISO RGD:1346274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 621259 Clk3 CDC-like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 621259 Clk3 CDC-like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:733625 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621259 Clk3 CDC-like kinase 3 gene DOID:5419 schizophrenia ISO RGD:733625 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621259 Clk3 CDC-like kinase 3 gene DOID:630 genetic disease ISO RGD:733625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621259 Clk3 CDC-like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:733625 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621260 Msn moesin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732547 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621260 Msn moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:7240710 20190315 OMIM 621260 Msn moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency PMID:24033266|PMID:25741868|PMID:27405666|PMID:28378256|PMID:28492532|PMID:29556235 621260 Msn moesin gene DOID:12849 autistic disorder ISO RGD:732547 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621260 Msn moesin gene DOID:630 genetic disease ISO RGD:732547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621260 Msn moesin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621260 Msn moesin gene DOID:8398 osteoarthritis ISO RGD:732547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621260 Msn moesin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621260 Msn moesin gene DOID:9007102 Myocardial Ischemia ISO RGD:732547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621261 Pla1a phospholipase A1 member A gene DOID:630 genetic disease ISO RGD:1343434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621263 Pbld1 phenazine biosynthesis-like protein domain containing 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 621263 Pbld1 phenazine biosynthesis-like protein domain containing 1 gene DOID:630 genetic disease ISO RGD:1606247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621264 Kcnv1 potassium voltage-gated channel modifier subfamily V member 1 gene DOID:630 genetic disease ISO RGD:731335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:7240710 20140911 OMIM 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:17576681|PMID:23599270|PMID:23738510|PMID:25640679|PMID:25741868|PMID:26358756|PMID:28492532|PMID:30294941|PMID:32037586|PMID:9536098 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23599270 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:732754 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:5812 MHC class II deficiency ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:630 genetic disease ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:9006561 Familial Myelofibrosis ISO RGD:732754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23599270 621267 Vps45 vacuolar protein sorting 45 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732754 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621269 Lgals2 galectin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621269 Lgals2 galectin 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735390 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 621269 Lgals2 galectin 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 621269 Lgals2 galectin 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 621269 Lgals2 galectin 2 gene DOID:5844 myocardial infarction ISO RGD:735390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15129282 621269 Lgals2 galectin 2 gene DOID:5844 myocardial infarction ISO RGD:735390 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:15129282 621269 Lgals2 galectin 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735390 D RGD:1581852|PMID:15129282 20061027 RGD 621269 Lgals2 galectin 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735390 D RGD:7240710 20190502 OMIM 621269 Lgals2 galectin 2 gene DOID:630 genetic disease ISO RGD:735390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621269 Lgals2 galectin 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 621269 Lgals2 galectin 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:735390 D RGD:1581853|PMID:17040205 20061027 RGD 621269 Lgals2 galectin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621270 Arf1 ADP-ribosylation factor 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 621270 Arf1 ADP-ribosylation factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12566280|PMID:24078732 621270 Arf1 ADP-ribosylation factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353880 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621270 Arf1 ADP-ribosylation factor 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:1553445 D RGD:9684857|PMID:22570480 20141209 RGD 621270 Arf1 ADP-ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:7240710 20190315 OMIM 621270 Arf1 ADP-ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 PMID:25741868|PMID:28868155 621270 Arf1 ADP-ribosylation factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353880 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 621270 Arf1 ADP-ribosylation factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353880 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 621270 Arf1 ADP-ribosylation factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353880 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621271 Arf2 ADP-ribosylation factor 2 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605146 D RGD:8554872 20201201 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:25741868 621271 Arf2 ADP-ribosylation factor 2 gene DOID:630 genetic disease ISO RGD:1605146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621272 Lgals8 galectin 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1354427 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621272 Lgals8 galectin 8 gene DOID:630 genetic disease ISO RGD:1354427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621272 Lgals8 galectin 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354427 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621273 Arf3 ADP-ribosylation factor 3 gene DOID:1059 intellectual disability ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621273 Arf3 ADP-ribosylation factor 3 gene DOID:1682 congenital heart disease ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 621273 Arf3 ADP-ribosylation factor 3 gene DOID:1826 epilepsy ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 621273 Arf3 ADP-ribosylation factor 3 gene DOID:543 dystonia ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 621273 Arf3 ADP-ribosylation factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 621274 Xpnpep1 X-prolyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:733430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621275 Arf4 ADP-ribosylation factor 4 gene DOID:630 genetic disease ISO RGD:1352328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621275 Arf4 ADP-ribosylation factor 4 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1352328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 621276 Trpc4 transient receptor potential cation channel, subfamily C, member 4 gene DOID:10283 prostate cancer ISO RGD:733150 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621276 Trpc4 transient receptor potential cation channel, subfamily C, member 4 gene DOID:1324 lung cancer susceptibility ISO RGD:733150 D RGD:152995362|PMID:27617218 20220615 RGD DNA:SNPs:: (rs9547991, rs978156) (human) 621276 Trpc4 transient receptor potential cation channel, subfamily C, member 4 gene DOID:630 genetic disease ISO RGD:733150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621276 Trpc4 transient receptor potential cation channel, subfamily C, member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates IMP XCO:0000010|XCO:0000922 D RGD:150429956|PMID:24113457 20220210 RGD 621276 Trpc4 transient receptor potential cation channel, subfamily C, member 4 gene DOID:9008820 Visceral Pain IMP D RGD:13825245|PMID:24388923 20181130 RGD 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734376 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema ISO RGD:734376 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema ISO RGD:734376 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:16175507|PMID:20625347|PMID:21898657 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema susceptibility ISO RGD:734376 D RGD:7240710 20190502 OMIM 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:12849 autistic disorder ISO RGD:734376 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:1558 angioedema ISO RGD:734376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16175507 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25568306 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734376 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:734376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621277 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621278 Arf5 ADP-ribosylation factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732462 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621278 Arf5 ADP-ribosylation factor 5 gene DOID:630 genetic disease ISO RGD:732462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621279 Arf6 ADP-ribosylation factor 6 gene DOID:630 genetic disease ISO RGD:734181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621279 Arf6 ADP-ribosylation factor 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621280 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:1682 congenital heart disease ISO RGD:732595 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Heart, malformation of 621280 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3070 high grade glioma ISO RGD:732595 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 621280 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3883 Lynch syndrome ISO RGD:732595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 621280 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:732595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621280 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732595 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621280 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9006281 Temporomandibular Joint Disorders IEP D RGD:10041017|PMID:23386193 20161111 RGD protein:decreased expression:cartilage tissue 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:0050773 paraganglioma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1343112 D RGD:152999012|PMID:20967871 20220716 RGD protein:increased expression:oral cavity (human) 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:0060108 brain glioma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:0080600 COVID-19 ISO RGD:1343112 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:13938 amenorrhea ISO RGD:1343112 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:2316 brain ischemia IEP D RGD:2317254|PMID:9288726 20100324 RGD protein:increased expression:thalamus (rat) 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:colon (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:3275 thymoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:decreased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:630 genetic disease ISO RGD:1343112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:8923 skin melanoma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 621281 Naip6 NLR family, apoptosis inhibitory protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343112 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:152999009|PMID:29286141 20220715 RGD mRNA:increased expression:oral cavity (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:152999012|PMID:20967871 20220716 RGD protein:increased expression:oral cavity (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:152998987|PMID:21952624 20220714 RGD protein:decreased expression:oral cavity (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732624 D RGD:152998980|PMID:23852810 20220714 RGD protein:increased expression:oral cavity (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue treatment ISO RGD:732624 D RGD:153305955|PMID:21465313 20220810 RGD DNA:gene fusion: (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0060108 brain glioma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732624 D RGD:152999008|PMID:30630498 20220715 RGD human cell line in a mouse model 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:732624 D RGD:153297819|PMID:29307797 20220727 RGD protein:increased expression:liver (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:1059 intellectual disability ISO RGD:732624 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:732624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12926068 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:1240 leukemia ISO RGD:732624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:732624 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:1996 rectum adenocarcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:219 colon cancer disease_progression ISO RGD:732624 D RGD:152998979|PMID:22751125 20220714 RGD protein:increased expression:colon (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3068 glioblastoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3459 breast carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732624 D RGD:153297804|PMID:32905523 20220727 RGD DNA:SNP:intron: (rs11225211) (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732624 D RGD:152998985|PMID:27737687 20220714 RGD protein:increased expression:lung (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732624 D RGD:152999005|PMID:20959404 20220715 RGD protein:increased expression:lung (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:B cell (human) PMID:33098370|REF_RGD_ID:153323293 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:4450 renal cell carcinoma ISO RGD:732624 D RGD:1643526|PMID:17154176 20100113 RGD mRNA:altered expression:kidney 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:732624 D RGD:152999007|PMID:26291056 20220715 RGD 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:732624 D RGD:153297817|PMID:28295868 20220727 RGD mRNA:increased expression:gall bladder (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:ovary (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:630 genetic disease ISO RGD:732624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732624 D RGD:152998937|PMID:30368883 20220707 RGD human cell line in a mouse model 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732624 D RGD:152998988|PMID:33310033 20220714 RGD human cell line in a mouse model 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:152998984|PMID:22682366 20220714 RGD associated with hepatitis B;mRNA, protein:increased expression:liver (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:152998986|PMID:22820591 20220714 RGD mRNA, protein:increased expression:liver (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732624 D RGD:152999010|PMID:30210622 20220715 RGD human cell line in a mouse model 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:769 neuroblastoma ISO RGD:732624 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:733266 D RGD:11537970|PMID:26037070 20220727 RGD 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9000918 Disease Progression ISO RGD:732624 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9002846 bowenoid papulosis ISO RGD:732624 D RGD:152998971|PMID:20346172 20220713 RGD mRNA:increased expression:perianal skin (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9003566 Mesothelioma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:733266 D RGD:11537970|PMID:26037070 20220727 RGD 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9004831 Colitis-Associated Neoplasms disease_progression ISO RGD:732624 D RGD:153323294|PMID:23388545 20220811 RGD mRNA:increased expression:colonic mucosa (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:732624 D RGD:153297819|PMID:29307797 20220727 RGD protein:increased expression:liver (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:153297818|PMID:27282269 20220727 RGD associated with stomach cancer 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:153305954|PMID:11398794 20220810 RGD associated with MALT lymphoma;DNA:gene fusion: (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9008163 Chronic Hepatitis B ameliorates ISO RGD:733266 D RGD:152998939|PMID:25902529 20220707 RGD 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9256 colorectal cancer ISO RGD:732624 D RGD:152999015|PMID:30653121 20220716 RGD protein:increased expression:colorectal mucosa, cytoplasm (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:153344527|PMID:27827395 20220822 RGD mRNA:decreased expression:colonic mucosa (human) 621282 Birc3 baculoviral IAP repeat-containing 3 gene DOID:9452 fatty liver disease ISO RGD:732624 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050731 vitamin B12 deficiency IEP D RGD:8694080|PMID:14646334 20140723 RGD protein:decreased expression,decreased activity:liver: 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:7240710 20230510 OMIM 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050873 follicular lymphoma ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:731933 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060058 lymphoma ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731933 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0080016 spina bifida ISO RGD:731933 D RGD:1302512|PMID:12375236 19990101 RGD DNA:polymorphism: :2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:731933 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0112256 homocystinuria-megaloblastic anemia cblG type ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1059 intellectual disability ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:10763 hypertension ISO RGD:731933 D RGD:1581050|PMID:15148588 19990101 RGD 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731933 D RGD:6893521|PMID:19837268 20130121 RGD DNA:polymorphism: :2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:114 heart disease ISO RGD:731933 D RGD:1581049|PMID:15202865 19990101 RGD 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12336 male infertility ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12849 autistic disorder susceptibility ISO RGD:731933 D RGD:5508202|PMID:19440165 20111007 RGD DNA:polymorphism: :66A>G (human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:731933 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer no_association ISO RGD:731933 D RGD:2317120|PMID:16737574 20100604 RGD DNA:Polymorphism: :rs1805087 (human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731933 D RGD:2317118|PMID:18843018 20100604 RGD DNA:Polymorphism: :rs1805087 (human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1826 epilepsy ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:2986 IgA glomerulonephritis ISO RGD:731933 D RGD:7207085|PMID:21737517 20130121 RGD DNA:polymorphism:Cds :2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:630 genetic disease ISO RGD:731933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:655 inherited metabolic disorder ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:20890936|PMID:21615938|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:674 cleft palate ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:74 hematopoietic system disease ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:768 retinoblastoma susceptibility ISO RGD:731933 D RGD:8694083|PMID:20310006 20140723 RGD DNA:SNP::2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:77 gastrointestinal system disease ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:7240710 20230510 OMIM 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9002704 Leukoencephalopathies ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:731933 D RGD:8694081|PMID:16778415 20140723 RGD DNA:SNP::2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:731933 D RGD:7387225|PMID:21385350 20131023 RGD DNA:SNP::2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7207081|PMID:18936199 20130121 RGD protein:decreased activity:liver 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005695 Malnutrition ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:19159907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731933 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9263 homocystinuria ISO RGD:731933 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:731933 D RGD:1601425|PMID:12068375 20070419 RGD 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9296 cleft lip ISO RGD:731933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7207079|PMID:21818837 20130121 RGD 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9538 multiple myeloma susceptibility ISO RGD:731933 D RGD:11075095|PMID:17655928 20160829 RGD DNA:polymorphism: :2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:11531136|PMID:26605150 20160829 RGD DNA:SNP::rs10925235(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:11531141|PMID:21618417 20160829 RGD DNA:polymorphism: :66A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731933 D RGD:11531137|PMID:22453148 20160829 RGD DNA:polymorphism: :2756A>G(human) 621283 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:731933 D RGD:11531140|PMID:15159311 20160829 RGD DNA:polymorphism: :2756A>G(human) 621284 Polr2g RNA polymerase II subunit G gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621284 Polr2g RNA polymerase II subunit G gene DOID:1059 intellectual disability ISO RGD:733856 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621284 Polr2g RNA polymerase II subunit G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733856 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:1059 intellectual disability ISO RGD:731659 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:12712 nephronophthisis ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:14004 thoracic aortic aneurysm ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:20813212|PMID:28492532 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:630 genetic disease ISO RGD:731659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10401137|PMID:25034417 20150928 RGD 621285 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:9001793 Generalized Epilepsy ISO RGD:731659 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:7240710 20171011 OMIM 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barber-Say syndrome PMID:16650233|PMID:1867254|PMID:19760652|PMID:20799330|PMID:20830793|PMID:25741868|PMID:26119818|PMID:27092433|PMID:28680619|PMID:8368246|PMID:9674915 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:7240710 20171011 OMIM 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ablepharon macrostomia syndrome PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:735468 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:735468 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:7240710 20141015 OMIM 621286 Twist2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type PMID:14069095|PMID:20691403|PMID:21931173|PMID:8818454 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:733815 D RGD:40818252|PMID:21887255 20201115 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:0050211 swine influenza ISO RGD:733815 D RGD:40818269|PMID:20130050 20201117 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:0050211 swine influenza severity ISO RGD:733815 D RGD:40818268|PMID:23602571 20201116 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:0060704 lymphoproliferative syndrome disease_progression ISO RGD:1348186 D RGD:39128180|PMID:22105417 20201103 RGD associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:11168 anogenital venereal wart ISO RGD:1348186 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:decreased expression:multiple (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:733815 D RGD:40818298|PMID:30995287 20201117 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:1508 candidiasis disease_progression ISO RGD:733815 D RGD:40818241|PMID:27736647 20201113 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1348186 D RGD:40400745|PMID:17553896 20201109 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:630 genetic disease ISO RGD:1348186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1348186 D RGD:40818276|PMID:27382604 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9003284 HIV Seropositivity ISO RGD:1348186 D RGD:40818300|PMID:27091211 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1348186 D RGD:40818277|PMID:18724804 20201117 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9003652 Hydatidiform Mole, Recurrent, 1 ISO RGD:1348186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 PMID:11598368|PMID:14756744|PMID:16199547|PMID:16239310|PMID:16462743|PMID:18039680|PMID:19054016|PMID:19066229|PMID:19246479|PMID:19309689|PMID:19650864|PMID:21507883|PMID:21659348|PMID:21948117|PMID:22315435|PMID:22361007|PMID:22646272|PMID:23201303|PMID:23354651|PMID:24033266|PMID:24105752|PMID:25082979|PMID:25097207|PMID:25741868|PMID:26956250|PMID:28492532 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348186 D RGD:40818079|PMID:20550548 20201110 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348186 D RGD:40818297|PMID:23813131 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348186 D RGD:40400738|PMID:21168454 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1348186 D RGD:40813739|PMID:25148254 20201109 RGD protein:decreased expression:liver, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348186 D RGD:40400920|PMID:31218578 20201106 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348186 D RGD:40818295|PMID:21695691 20201117 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1348186 D RGD:40818296|PMID:16322112 20201117 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:1348186 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Hydatidiform mole PMID:24033266|PMID:25741868 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733815 D RGD:40818246|PMID:26371250 20201113 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections disease_progression ISO RGD:733815 D RGD:40818245|PMID:28643847 20201113 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:733815 D RGD:40818249|PMID:29440507 20201113 RGD DNA:SNP:cds: p.C14R (mouse) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:733815 D RGD:40818251|PMID:22267813 20201113 RGD 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348186 D RGD:39128177|PMID:29625837 20201104 RGD protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1348186 D RGD:40818237|PMID:26291078 20201113 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 621288 Ncr1 natural cytotoxicity triggering receptor 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1348186 D RGD:40400737|PMID:28328926 20201103 RGD protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:0080773 delta beta-thalassemia ISO RGD:733300 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:0111969 immunodeficiency 39 ISO RGD:733300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:630 genetic disease ISO RGD:733300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733300 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:7240710 20141022 OMIM 621290 Cd151 CD151 molecule (Raph blood group) gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS | ClinVar Annotator: match by term: Nephropathy with pretibial epidermolysis bullosa and deafness PMID:15265795|PMID:25741868|PMID:25741871|PMID:28492532 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:23910690|PMID:28492532 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:736074 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:14780 KBG syndrome ISO RGD:736074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:3805 porokeratosis ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:30942823|PMID:33005717 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:630 genetic disease ISO RGD:736074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:7240710 20170405 OMIM 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 7, multiple types PMID:21161278|PMID:25741868|PMID:26202976 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:9000808 Hypercholesterolemia ISO RGD:736075 D RGD:13782271|PMID:25168180 20180831 RGD mRNA:increased expression:liver 621292 Mvd mevalonate diphosphate decarboxylase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:736074 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:7240710 20130731 OMIM 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:734618|PMID:8841193 19990101 RGD 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:10914677|PMID:15083169|PMID:16199547|PMID:17576681|PMID:17882224|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23757202|PMID:23911890|PMID:24033266|PMID:24707176|PMID:25614869|PMID:25741868|PMID:26248958|PMID:26467025|PMID:28492532|PMID:30688039|PMID:30996034|PMID:32040565|PMID:8841193|PMID:9367679|PMID:9536098 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:731640 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731640 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:5419 schizophrenia ISO RGD:731640 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:6000 congestive heart failure ISO RGD:731640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:731640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13782071|PMID:21930674 20180817 RGD protein:decreased expression:tail, skeletal muscle 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9004484 Sepsis IEP D RGD:13782063|PMID:28446393 20180817 RGD 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:12910731|PMID:28483572 20180817 RGD 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007346 Cachexia IEP D RGD:13782066|PMID:23200745 20180817 RGD associated with hepatocellular carcinoma 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:13782075|PMID:17630344 20180817 RGD 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9009207 Alcohol Myopathy IEP D RGD:1581765|PMID:14506614 20180817 RGD 621293 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:6771327|PMID:22009485 20180817 RGD 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606025 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:13580 cholestasis treatment IEP D RGD:15045612|PMID:30223280 20191218 RGD 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:630 genetic disease ISO RGD:1606025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:9002189 High Myopia ISO RGD:1606025 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:9002669 Hypoxia ISO RGD:1606025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606025 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:9270 alkaptonuria ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 621294 Aldh1l1 aldehyde dehydrogenase 1 family, member L1 gene DOID:9970 obesity ISO RGD:1606025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 621295 Mvk mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:10369261|PMID:12477733|PMID:17596604|PMID:18008182|PMID:24073415|PMID:27377765 621295 Mvk mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:7240710 20130731 OMIM 621295 Mvk mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15457465|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16255052|PMID:16435210|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17171314|PMID:17576681|PMID:18414213|PMID:18839211|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21225694|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22271696|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23707710|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:30148429|PMID:31096039|PMID:31278138|PMID:31325964|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:34751146|PMID:35387795|PMID:8386351|PMID:9334262|PMID:9536098 621295 Mvk mevalonate kinase gene DOID:0050486 exanthem ISO RGD:732031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 621295 Mvk mevalonate kinase gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:15781192|PMID:16199547|PMID:16410054|PMID:20556797|PMID:23707710|PMID:24033266|PMID:25741868|PMID:27591164|PMID:28492532|PMID:30022420|PMID:34796408 621295 Mvk mevalonate kinase gene DOID:0110936 nemaline myopathy 5 ISO RGD:732031 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:16835861|PMID:22246419|PMID:23006543|PMID:24411001|PMID:25741868|PMID:28492532 621295 Mvk mevalonate kinase gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:25741868 621295 Mvk mevalonate kinase gene DOID:14749 methylmalonic acidemia ISO RGD:732031 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:24033266|PMID:25741868|PMID:28492532 621295 Mvk mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:32822427|PMID:33917151|PMID:35387795 621295 Mvk mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 621295 Mvk mevalonate kinase gene DOID:3146 lipid metabolism disorder ISO RGD:732031 D RGD:1600528|PMID:1377680 20070312 RGD mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T 621295 Mvk mevalonate kinase gene DOID:630 genetic disease ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11313769|PMID:12444096|PMID:12634869|PMID:15149516|PMID:15536479|PMID:17105862|PMID:18839211|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28814775|PMID:29290516|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 621295 Mvk mevalonate kinase gene DOID:684 hepatocellular carcinoma ISO RGD:732031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 621295 Mvk mevalonate kinase gene DOID:8501 fundus dystrophy ISO RGD:732031 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15457465 621295 Mvk mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22983302 621295 Mvk mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:7240710 20130731 OMIM 621295 Mvk mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16255052|PMID:16435210|PMID:16835861|PMID:17105862|PMID:17171314|PMID:18414213|PMID:18839211|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:24781643|PMID:24794831|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:31096039|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:35387795|PMID:8386351|PMID:9334262 621295 Mvk mevalonate kinase gene DOID:9000972 Fever ISO RGD:732031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 621295 Mvk mevalonate kinase gene DOID:9005372 Inflammation ISO RGD:732031 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:24073415 621295 Mvk mevalonate kinase gene DOID:9006065 Arthralgia ISO RGD:732031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:7240710 20140205 OMIM 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 PMID:10330339|PMID:10862088|PMID:11339651|PMID:12376936|PMID:15520412|PMID:16199547|PMID:17576681|PMID:18684116|PMID:20340139|PMID:21990111|PMID:22612257|PMID:22752289|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25356970|PMID:25741868|PMID:26224725|PMID:26467025|PMID:28335910|PMID:28492532|PMID:30771299|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32855042|PMID:34126256|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:7240710 20130221 OMIM 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1603717 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1603717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10320038 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10320038|PMID:11589009 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:33348105|PMID:33377563|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:31283065 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:1932 Angelman syndrome ISO RGD:1603717 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10330339|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30792901 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330339|PMID:10356316|PMID:10665500|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25356970|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27604308|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28717666|PMID:30541466|PMID:31283065|PMID:31489614|PMID:32329550|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1603717 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621296 Tpp1 tripeptidyl peptidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10330339|PMID:11017954|PMID:11071145|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16782851|PMID:16814585|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:9295267|PMID:9788728 621297 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 621297 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:7240710 20190315 OMIM 621297 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6 | ClinVar Annotator: match by term: PMPCB-related mitochondrial disorder PMID:25741868|PMID:28492532|PMID:29576218 621297 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733027 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621297 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:630 genetic disease ISO RGD:733027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29576218 621299 Thbd thrombomodulin gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1349382 D RGD:5685036|PMID:20418386 20120109 RGD 621299 Thbd thrombomodulin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 621299 Thbd thrombomodulin gene DOID:0060903 thrombosis ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11132655|PMID:11518727 621299 Thbd thrombomodulin gene DOID:0060903 thrombosis ISO RGD:1349382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:11038691|PMID:19625716 20160219 RGD DNA:missense mutations:CDS:multiple 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19625716 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:7240710 20230517 OMIM 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:7811989|PMID:9157575|PMID:9236408 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9236408 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31064749|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9198186|PMID:9236408 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome no_association ISO RGD:1349382 D RGD:11038691|PMID:19625716 20160219 RGD DNA:SNPs:5' utr, 3' utr:multiple 621299 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1349382 D RGD:11038684|PMID:20595690 20160219 RGD 621299 Thbd thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621299 Thbd thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:7240710 20230517 OMIM 621299 Thbd thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombomodulin-related bleeding disorder | ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect PMID:10195941|PMID:10460600|PMID:10627464|PMID:11078228|PMID:11986219|PMID:12139752|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9198186|PMID:9236408|PMID:9364978|PMID:9843165 621299 Thbd thrombomodulin gene DOID:0112313 brain small vessel disease severity ISO RGD:1349382 D RGD:5684978|PMID:22170884 20120105 RGD protein:increased expression:artery endothelium 621299 Thbd thrombomodulin gene DOID:10223 dermatomyositis ISO RGD:1349382 D RGD:5685006|PMID:17899683 20120106 RGD 621299 Thbd thrombomodulin gene DOID:10652 Alzheimer's disease ISO RGD:1349382 D RGD:5685018|PMID:15760641 20120106 RGD 621299 Thbd thrombomodulin gene DOID:10763 hypertension IEP D RGD:1601652|PMID:12611420 20070427 RGD protein:decreased expression:plasma 621299 Thbd thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:1601636|PMID:17401180 20070426 RGD protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:5685017|PMID:16095049 20120106 RGD 621299 Thbd thrombomodulin gene DOID:10763 hypertension treatment IEP D RGD:1601646|PMID:14737039 20070426 RGD associated with Experimental Diabetes Mellitus 621299 Thbd thrombomodulin gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 621299 Thbd thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9134660 621299 Thbd thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:5685034|PMID:21569368 20120109 RGD 621299 Thbd thrombomodulin gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1349382 D RGD:11038686|PMID:23952647 20160219 RGD 621299 Thbd thrombomodulin gene DOID:11394 adult respiratory distress syndrome IEP D RGD:1601651|PMID:12707536 20070427 RGD protein:decreased expression:lung 621299 Thbd thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12707536 621299 Thbd thrombomodulin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1349382 D RGD:5684985|PMID:20156770 20120105 RGD protein:increased expression:serum 621299 Thbd thrombomodulin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1553030 D RGD:11038690|PMID:22942429 20160219 RGD 621299 Thbd thrombomodulin gene DOID:13809 familial combined hyperlipidemia ISO RGD:1349382 D RGD:1601645|PMID:15262191 20070426 RGD 621299 Thbd thrombomodulin gene DOID:1459 hypothyroidism ISO RGD:1349382 D RGD:11038688|PMID:22985614 20160219 RGD 621299 Thbd thrombomodulin gene DOID:1588 thrombocytopenia ISO RGD:1349382 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 621299 Thbd thrombomodulin gene DOID:1875 impotence ISO RGD:1349382 D RGD:2312459|PMID:11596671 20090818 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:2213 hemorrhagic disease ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 621299 Thbd thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12139752 621299 Thbd thrombomodulin gene DOID:2841 asthma ISO RGD:1349382 D RGD:5684984|PMID:20709825 20120105 RGD 621299 Thbd thrombomodulin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349382 D RGD:30309949|PMID:16274108 20200622 RGD protein:increased expression:plasma (human) 621299 Thbd thrombomodulin gene DOID:2987 familial Mediterranean fever ISO RGD:1349382 D RGD:5685013|PMID:17067436 20120106 RGD protein:increased expression:blood 621299 Thbd thrombomodulin gene DOID:3021 acute kidney failure ISO RGD:1349382 D RGD:5685010|PMID:17804460 20120106 RGD 621299 Thbd thrombomodulin gene DOID:3021 acute kidney failure treatment IDA D RGD:5684994|PMID:19176699 20120106 RGD 621299 Thbd thrombomodulin gene DOID:326 ischemia IEP D RGD:2312461|PMID:19461288 20090818 RGD 621299 Thbd thrombomodulin gene DOID:3393 coronary artery disease severity ISO RGD:1349382 D RGD:1601638|PMID:17012137 20070426 RGD 621299 Thbd thrombomodulin gene DOID:3410 carotid artery thrombosis ISO RGD:1349382 D RGD:5684980|PMID:21885846 20120105 RGD 621299 Thbd thrombomodulin gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349382 D RGD:5685021|PMID:15574195 20120106 RGD DNA:missense mutation:cds:p.A455V (human) 621299 Thbd thrombomodulin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349382 D RGD:5685035|PMID:20607726 20120109 RGD 621299 Thbd thrombomodulin gene DOID:409 liver disease ISO RGD:1349382 D RGD:5684988|PMID:19487933 20120110 RGD associated with Endotoxemia 621299 Thbd thrombomodulin gene DOID:557 kidney disease ISO RGD:1349382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10460600|PMID:11986219|PMID:12139752|PMID:25741868|PMID:28492532|PMID:7811989 621299 Thbd thrombomodulin gene DOID:5844 myocardial infarction ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9843165|PMID:10627464 621299 Thbd thrombomodulin gene DOID:630 genetic disease ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621299 Thbd thrombomodulin gene DOID:6432 pulmonary hypertension ISO RGD:1349382 D RGD:1601639|PMID:16784493 20070426 RGD associated with Mixed Connective Tissue Disease 621299 Thbd thrombomodulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349382 D RGD:5685023|PMID:15209962 20120109 RGD protein:increased expression:serum 621299 Thbd thrombomodulin gene DOID:7147 ankylosing spondylitis ISO RGD:1349382 D RGD:5684983|PMID:21556780 20120105 RGD protein:increased expression:serum 621299 Thbd thrombomodulin gene DOID:7148 rheumatoid arthritis ISO RGD:1349382 D RGD:5685020|PMID:15700117 20120106 RGD 621299 Thbd thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1349382 D RGD:5684981|PMID:21873362 20120105 RGD protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1553030 D RGD:5684979|PMID:22129968 20120105 RGD 621299 Thbd thrombomodulin gene DOID:8577 ulcerative colitis ISO RGD:1349382 D RGD:5685011|PMID:17557119 20120106 RGD protein:decreased expression:colon, blood vessel 621299 Thbd thrombomodulin gene DOID:8778 Crohn's disease ISO RGD:1349382 D RGD:5685011|PMID:17557119 20120106 RGD protein:decreased expression:colon, blood vessel 621299 Thbd thrombomodulin gene DOID:9000039 Spinal Cord Injuries ISO RGD:1349382 D RGD:1580060|PMID:15307903 20120106 RGD 621299 Thbd thrombomodulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1349382 D RGD:5685024|PMID:15187749 20120109 RGD protein:increased expression:blood 621299 Thbd thrombomodulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 621299 Thbd thrombomodulin gene DOID:9000528 Coronary Disease ISO RGD:1349382 D RGD:2312456|PMID:17200788 20090818 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:9000998 Brain Injuries onset ISO RGD:1349382 D RGD:5685007|PMID:17895610 20120106 RGD 621299 Thbd thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:5685038|PMID:21112949 20120109 RGD protein:increased expression:liver 621299 Thbd thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621299 Thbd thrombomodulin gene DOID:9002211 Hyperalgesia ISO RGD:1349382 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:27474498 621299 Thbd thrombomodulin gene DOID:9002211 Hyperalgesia treatment ISO RGD:1349382 D RGD:11038687|PMID:24004409 20160219 RGD associated with Inflammation 621299 Thbd thrombomodulin gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349382 D RGD:5685033|PMID:21812019 20120109 RGD 621299 Thbd thrombomodulin gene DOID:9002457 Experimental Arthritis ISO RGD:1553030 D RGD:5685015|PMID:16879225 20120106 RGD 621299 Thbd thrombomodulin gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:1349382 D RGD:11038715|PMID:8665042 20160222 RGD associated with Endotoxemia 621299 Thbd thrombomodulin gene DOID:9003121 Thromboembolism treatment ISO RGD:1349382 D RGD:11038685|PMID:24098750 20160219 RGD 621299 Thbd thrombomodulin gene DOID:9004009 Reperfusion Injury ISO RGD:1553030 D RGD:5131887|PMID:19342415 20120105 RGD 621299 Thbd thrombomodulin gene DOID:9004484 Sepsis IEP D RGD:2312462|PMID:17577447 20090818 RGD 621299 Thbd thrombomodulin gene DOID:9004590 Acute Liver Failure IEP D RGD:1601654|PMID:11882417 20070427 RGD protein:increased expression:serum 621299 Thbd thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1349382 D RGD:5685372|PMID:19536047 20120110 RGD associated with Endotoxemia 621299 Thbd thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1553030 D RGD:5131887|PMID:19342415 20120105 RGD 621299 Thbd thrombomodulin gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:13515130|PMID:20095324 20180409 RGD 621299 Thbd thrombomodulin gene DOID:9004649 Heat Stroke ISO RGD:1349382 D RGD:5684987|PMID:20160670 20120105 RGD 621299 Thbd thrombomodulin gene DOID:9004974 Painful Neuropathy ISO RGD:1349382 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:27474498 621299 Thbd thrombomodulin gene DOID:9005372 Inflammation treatment ISO RGD:1349382 D RGD:11038687|PMID:24004409 20160219 RGD 621299 Thbd thrombomodulin gene DOID:9005930 Endotoxemia IEP D RGD:1601652|PMID:12611420 20070427 RGD mRNA:decreased expression:endothelial cell 621299 Thbd thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1349382 D RGD:5684988|PMID:19487933 20120105 RGD 621299 Thbd thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1553030 D RGD:5685037|PMID:20348393 20120109 RGD 621299 Thbd thrombomodulin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349382 D RGD:1601641|PMID:16567841 20070426 RGD associated with Diabetic Nephropathies;protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349382 D RGD:11554173 20170110 CTD CTD Direct Evidence: therapeutic PMID:27474498 621299 Thbd thrombomodulin gene DOID:9007096 Stroke ISO RGD:1349382 D RGD:5684982|PMID:21645225 20120105 RGD 621299 Thbd thrombomodulin gene DOID:9007096 Stroke ISO RGD:1349382 D RGD:5684986|PMID:20581778 20120105 RGD 621299 Thbd thrombomodulin gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1349382 D RGD:11038683|PMID:23954867 20160219 RGD DNA:SNP: :1418C>T (human) 621299 Thbd thrombomodulin gene DOID:9007692 Insulin Resistance ISO RGD:1349382 D RGD:2312460|PMID:11453033 20090818 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 621299 Thbd thrombomodulin gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:1349382 D RGD:11038716|PMID:22001200 20160222 RGD 621299 Thbd thrombomodulin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349382 D RGD:5684995|PMID:18484695 20120106 RGD protein:increased expression:serum 621299 Thbd thrombomodulin gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1601648|PMID:17090405 20090818 RGD mRNA:decreased expression:blood vessel endothelial cell 621299 Thbd thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349382 D RGD:2312457|PMID:17195062 20090818 RGD 621299 Thbd thrombomodulin gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:2312458|PMID:11738074 20090818 RGD protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:9477 pulmonary embolism ISO RGD:1349382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7811989 621299 Thbd thrombomodulin gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:2312458|PMID:11738074 20090818 RGD protein:increased expression:plasma 621299 Thbd thrombomodulin gene DOID:9970 obesity severity ISO RGD:1349382 D RGD:1601640|PMID:16651309 20070426 RGD protein:increased expression:plasma 621300 Cntn1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:7240710 20130221 OMIM 621300 Cntn1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Compton-North congenital myopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19026398|PMID:22242131|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 621300 Cntn1 contactin 1 gene DOID:630 genetic disease ISO RGD:732231 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621300 Cntn1 contactin 1 gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:5685697|PMID:22044737 20141217 RGD 621300 Cntn1 contactin 1 gene DOID:9004866 Ataxia ISO RGD:732232 D RGD:734798|PMID:10595523 19990101 RGD 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:155641254|PMID:26971886 20221107 RGD DNA:missense mutations:CDS:multiple (human) 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:7240710 20171011 OMIM 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome PMID:25047197|PMID:25504470|PMID:25741868|PMID:26240113|PMID:26971886 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:1059 intellectual disability ISO RGD:733493 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: intellectual disabilities 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3492 mixed connective tissue disease ISO RGD:733493 D RGD:10448928|PMID:2968364 20151208 RGD 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:733493 D RGD:10768834|PMID:22876301 20160209 RGD mRNA:increased expression:lung (human) 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733493 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pierre Robin Syndrome 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:630 genetic disease ISO RGD:733493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621301 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000918 Disease Progression ISO RGD:733493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621302 Cntn5 contactin 5 gene DOID:10487 Hirschsprung's disease ISO RGD:734326 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 621302 Cntn5 contactin 5 gene DOID:1059 intellectual disability ISO RGD:734326 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621302 Cntn5 contactin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:734326 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621302 Cntn5 contactin 5 gene DOID:12849 autistic disorder ISO RGD:734326 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621302 Cntn5 contactin 5 gene DOID:630 genetic disease ISO RGD:734326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension IEP D RGD:2317726|PMID:20137670 20100419 RGD mRNA:increased expression:vascular associated smooth muscle cell 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:732984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430479 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:11836 clubfoot ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:3393 coronary artery disease ISO RGD:732984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:732984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:83 cataract ISO RGD:732984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15003327 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:7240710 20220629 OMIM 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66 PMID:25741868|PMID:35358416 621303 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35358416 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050476 Barth syndrome ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050891 adrenal cortical adenoma ISO RGD:731628 D RGD:8554872 20150211 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050952 spastic ataxia ISO RGD:731628 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731628 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:7240710 20130731 OMIM 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia PMID:10797423|PMID:22912398|PMID:25326635|PMID:25741868|PMID:26633542|PMID:27435318|PMID:27632770|PMID:27653636|PMID:28492532 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111861 Meester-Loeys syndrome ISO RGD:731628 D RGD:8554872 20200619 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:27632686 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:731628 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:731628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:12849 autistic disorder ISO RGD:731628 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:13628 favism ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731628 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27632686 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:2729 dyskeratosis congenita ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:446 primary hyperaldosteronism ISO RGD:731628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:607 paraplegia ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797423|PMID:22912398|PMID:25741868|PMID:27632770|PMID:27653636|PMID:28492532 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:731628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9000495 Tremor IAGP D RGD:13825260|PMID:27013529 20181204 RGD 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9002720 Splenomegaly ISO RGD:731628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:731628 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 621304 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9008086 Developmental Disabilities ISO RGD:731628 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:10283 prostate cancer ISO RGD:1348952 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348952 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:543 dystonia IEP D RGD:1599351|PMID:17092653 20121018 RGD mRNA:increased expression:cerebellar cortex 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:630 genetic disease ISO RGD:1348952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 621305 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348952 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:0060041 autism spectrum disorder ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome ISO RGD:1343749 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome ISS RGD:735464 D RGD:13592920 20220811 MouseDO OMIM:176270 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome susceptibility ISO RGD:1343749 D RGD:1601354|PMID:8723064 20070417 RGD DNA:deletion 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:12849 autistic disorder ISO RGD:1343749 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:12849 autistic disorder ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:1932 Angelman syndrome ISO RGD:1343749 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:1932 Angelman syndrome ISO RGD:1343749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:5419 schizophrenia ISO RGD:1343749 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:630 genetic disease ISO RGD:1343749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621306 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343749 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621308 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:731281 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 621308 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 621308 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731281 D RGD:2301729|PMID:18336616 20081030 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) (human) 621308 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:731281 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 621308 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:731281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621308 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731281 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21750348 621309 Rhob ras homolog family member B gene DOID:0080600 COVID-19 ISO RGD:1351195 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 621309 Rhob ras homolog family member B gene DOID:1612 breast cancer severity ISO RGD:1351195 D RGD:2298874|PMID:12237774 20080730 RGD protein:increased expression:breast 621309 Rhob ras homolog family member B gene DOID:1909 melanoma IDA D RGD:704376|PMID:12606940 19990101 RGD 621309 Rhob ras homolog family member B gene DOID:1969 cerebral palsy ISO RGD:1351195 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RHOB-related disorder PMID:25741868|PMID:32989326 621309 Rhob ras homolog family member B gene DOID:418 systemic scleroderma ISO RGD:1351195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 621309 Rhob ras homolog family member B gene DOID:4989 pancreatitis ISO RGD:1351195 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Recurrent pancreatitis PMID:25741868|PMID:32989326 621309 Rhob ras homolog family member B gene DOID:630 genetic disease ISO RGD:1351195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32989326 621309 Rhob ras homolog family member B gene DOID:9001962 Avian Sarcoma IDA D RGD:704375|PMID:1710770 19990101 RGD 621310 Rhog ras homolog family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621310 Rhog ras homolog family member G gene DOID:0060354 Stormorken syndrome ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 621310 Rhog ras homolog family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1316030 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 621310 Rhog ras homolog family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621310 Rhog ras homolog family member G gene DOID:630 genetic disease ISO RGD:1316030 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9614181 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11450592|PMID:16621454|PMID:20338123 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:7240710 20130221 OMIM 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial benign pemphigus PMID:10615129|PMID:10767338|PMID:11874499|PMID:15545997|PMID:21883398|PMID:25741868|PMID:28492532|PMID:3978039 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:733912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 621311 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9270 alkaptonuria ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 621312 St13 ST13, Hsp70 interacting protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621312 St13 ST13, Hsp70 interacting protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 621312 St13 ST13, Hsp70 interacting protein gene DOID:630 genetic disease ISO RGD:733794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621313 Tradd TNFRSF1A-associated via death domain gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621313 Tradd TNFRSF1A-associated via death domain gene DOID:0110255 cataract 5 multiple types ISO RGD:1350695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 621313 Tradd TNFRSF1A-associated via death domain gene DOID:630 genetic disease ISO RGD:1350695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621313 Tradd TNFRSF1A-associated via death domain gene DOID:684 hepatocellular carcinoma ISO RGD:1350695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 621313 Tradd TNFRSF1A-associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:8661760|PMID:23423194 20160707 RGD 621313 Tradd TNFRSF1A-associated via death domain gene DOID:9008091 Optic Nerve Injuries IEP D RGD:7794683|PMID:18552980 20140108 RGD protein:increased expression: retina 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0050700 cardiomyopathy ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12967636 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:18571143 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:12910473|PMID:18571143 20170615 RGD DNA:mutation:exon: g.1512A>G(p.D29G)(human) 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:7240710 20130221 OMIM 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:18571143|PMID:24033266|PMID:25741868|PMID:27405012|PMID:28492532 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:733895 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:18571143 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:7240710 20130221 OMIM 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 PMID:10677329|PMID:12483302|PMID:17420924|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733896 D RGD:10402832|PMID:23466696 20151102 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10603 glucose intolerance disease_progression ISO RGD:733895 D RGD:12910474|PMID:11591125 20170615 RGD associated with Cystic Fibrosis; 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease IDA D RGD:1624243|PMID:15802185 20070507 RGD protein:increased modification:brain 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733895 D RGD:10402831|PMID:22753410 20151102 RGD protein:increased expression:mitochondrion: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733896 D RGD:10402831|PMID:22753410 20151102 RGD protein:increased expression:cytosol, mitochondrion: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension IEP D RGD:10402862|PMID:18948349 20151103 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension IEP D RGD:1624213|PMID:15729290 20070503 RGD mRNA:increased expression:brain, blood vessel 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10908 hydrocephalus IEP D RGD:1624238|PMID:15964663 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:12337 varicocele IEP D RGD:1624240|PMID:15804863 20070504 RGD mRNA:increased expression:spermatid 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:12849 autistic disorder ISO RGD:733895 D RGD:12910475|PMID:15138176 20170615 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:13544 low tension glaucoma IDA D RGD:10402863|PMID:20858111 20170619 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:14250 Down syndrome ISO RGD:733895 D RGD:10402838|PMID:12515899 20151102 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:14330 Parkinson's disease IEP D RGD:10402846|PMID:23943523 20151102 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:1485 cystic fibrosis ISO RGD:733895 D RGD:12910480|PMID:8255671 20170615 RGD protein:increased expression:serum: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2349 arteriosclerosis ISO RGD:733895 D RGD:1624204|PMID:17070529 20070503 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:1624200|PMID:11898127 20070503 RGD DNA:missense mutation: :p.V72I 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28166811|PMID:28492532|PMID:28832565 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:733895 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V72I PMID:11898127|REF_RGD_ID:1624200 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:299 adenocarcinoma ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3393 coronary artery disease severity ISO RGD:733895 D RGD:1624218|PMID:11222468 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3407 carotid artery disease ISO RGD:733895 D RGD:1581882|PMID:16579988 20070503 RGD protein:increased expression:serum 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:12910545|PMID:11746186 20170619 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:4195 hyperglycemia IEP D RGD:1624212|PMID:15961182 20070503 RGD protein:increased expression 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:5844 myocardial infarction IEP D RGD:1624230|PMID:17202668 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:607 paraplegia ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17420924|PMID:17576681|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565|PMID:9536098 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733895 D RGD:12910480|PMID:8255671 20170615 RGD protein:increased expression:serum,synovial fluid: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:733895 D RGD:10402843|PMID:21417552 20151102 RGD mRNA:increased expression:peripheral blood leukocyte: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:1624246|PMID:14753490 20070507 RGD mRNA:increased expression:brain stem 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000528 Coronary Disease ISO RGD:733895 D RGD:1624217|PMID:12059985 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:733895 D RGD:1624216|PMID:12921987 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9001205 Experimental Autoimmune Orchitis IDA D RGD:1624236|PMID:16092147 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9001916 Fetal Death ISO RGD:733896 D RGD:12910472|PMID:20393889 20170615 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9002457 Experimental Arthritis IDA D RGD:12910542|PMID:10882416 20170619 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9002457 Experimental Arthritis IDA D RGD:1624244|PMID:15529360 20070507 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9002669 Hypoxia IEP D RGD:1624228|PMID:17439344 20070504 RGD associated with Brain Injuries;mRNA:increased expression:brain 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004283 Transplant Rejection IEP D RGD:12910541|PMID:23953577 20170619 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004397 calcification of aortic valve severity ISO RGD:733895 D RGD:12910476|PMID:15120829 20170615 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733895 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis IEP D RGD:10402864|PMID:23143056 20151103 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis IEP D RGD:1624233|PMID:16483253 20070504 RGD associated with burns;protein:decreased expression:skeletal muscle 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005005 Oral Ulcer ISO RGD:733895 D RGD:12910477|PMID:20580281 20170615 RGD associated with Behcet Syndrome;protein:increased expression:muccal mucosa: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:733896 D RGD:12910478|PMID:8881756 20170615 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1624229|PMID:17280490 20070504 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia IEP D RGD:1624232|PMID:16675490 20070504 RGD mRNA, protein:increased expression:medulla oblongata 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:733895 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9007102 Myocardial Ischemia IEP D RGD:1624250|PMID:12872233 20070507 RGD protein:increased expression:heart 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9007355 Hashimoto Disease ISO RGD:733895 D RGD:12910543|PMID:9161695 20170619 RGD protein:increased expression:throcyte: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9007692 Insulin Resistance IEP D RGD:10402862|PMID:18948349 20151103 RGD 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9008217 Hemorrhage IEP D RGD:1624234|PMID:16288780 20070504 RGD associated with Wounds and Injuries;mRNA, protein:decreased expression:heart 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733895 D RGD:12910480|PMID:8255671 20170615 RGD protein:increased expression:serum: 621314 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9663 aphthous stomatitis ISO RGD:733895 D RGD:12910477|PMID:20580281 20170615 RGD protein:increased expression:muccal mucosa: 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350223 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:630 genetic disease ISO RGD:1350223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:700 mitochondrial metabolism disease ISO RGD:1350223 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1350223 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1350223 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:9005587 Starvation ISO RGD:1350223 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:9007102 Myocardial Ischemia IDA D RGD:629541|PMID:12371906 19990101 RGD 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 621315 Map1lc3b microtubule-associated protein 1 light chain 3 beta gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0002116 pterygium disease_progression ISO RGD:730821 D RGD:8657043|PMID:19420332 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730821 D RGD:1581215|PMID:16681691 19990101 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0050777 Joubert syndrome ISO RGD:730821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:28492532 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730821 D RGD:2290392|PMID:17642161 20080311 RGD protein:increased expression:breast 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0060224 atrial fibrillation ISO RGD:730821 D RGD:8547896|PMID:18194448 20140227 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080001 bone disease ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080162 lupus nephritis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080334 aortic valve disease 2 ISO RGD:730821 D RGD:13204802|PMID:23615040 20170719 RGD protein:increased expression:serum 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080600 COVID-19 ISO RGD:730821 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080685 aortic dissection treatment ISO RGD:730822 D RGD:156420156|PMID:33403385 20230219 RGD Apolipoprotein E knockout 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080696 Winchester syndrome ISO RGD:730821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080746 Sweet syndrome ISO RGD:730821 D RGD:8657060|PMID:21658319 20140528 RGD protein:increased expression:skin 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:730821 D RGD:7207084|PMID:16164636 20130121 RGD protein:increased expression:renal glomeruli (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:7207204|PMID:11590325 20130123 RGD mRNA:increased expression:pancreas (rat) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:730821 D RGD:13204823|PMID:23720035 20170720 RGD protein:increased expression:urine 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10126 keratoconus ISO RGD:730821 D RGD:8657033|PMID:22580443 20140528 RGD protein:decreased expression:plasma 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10159 osteonecrosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730821 D RGD:2290389|PMID:18329693 20080311 RGD protein:increased expression:prostate gland 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730821 D RGD:13204814|PMID:23185624 20170720 RGD protein:increased expression:cerebrospinal fluid 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10591 pre-eclampsia ISO RGD:730821 D RGD:2290399|PMID:17083831 20080311 RGD mRNA, protein:decreased expression:placenta 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730821 D RGD:10059680|PMID:21875409 20150825 RGD protein:decreased expression:platelet 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1073 renal hypertension IDA D RGD:1302333|PMID:12923405 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10763 hypertension IEP D RGD:2290351|PMID:17977875 20080310 RGD mRNA, protein:increased expression:kidney 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18836702 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:1582612|PMID:16840178 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10808 gastric ulcer IEP D RGD:10043177|PMID:15375341 20150518 RGD mRNA:increased expression:stomach 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm IEP D RGD:2290352|PMID:17569872 20080310 RGD mRNA:increased expression:blood vessel 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:730821 D RGD:1582590|PMID:9724118 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:730821 D RGD:1582646|PMID:16961137 20061116 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:730821 D RGD:8547870|PMID:15620146 20140226 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 621316 Mmp2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:2290395|PMID:17466450 20080311 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:11612 polycystic ovary syndrome IEP D RGD:9999396|PMID:21910062 20150416 RGD protein:decreased expression:ovary 621316 Mmp2 matrix metallopeptidase 2 gene DOID:11830 myopia ISO RGD:730821 D RGD:8549731|PMID:20484597 20140402 RGD DNA:SNPs:cds, introns:multiple 621316 Mmp2 matrix metallopeptidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:730821 D RGD:5130889|PMID:18585501 20110413 RGD protein:increased expression:plasma 621316 Mmp2 matrix metallopeptidase 2 gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:8552731|PMID:20056896 20140724 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:12662 paracoccidioidomycosis ISO RGD:730822 D RGD:8657058|PMID:19765107 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:127 leiomyoma ISO RGD:730821 D RGD:2290362|PMID:17943549 20080310 RGD protein:increased expression:myometrium 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730822 D RGD:5130726|PMID:17254480 20110411 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid 621316 Mmp2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730822 D RGD:1582576|PMID:16037568 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:13001 carotid stenosis ISO RGD:730822 D RGD:1582575|PMID:16147977 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:2325738|PMID:19357873 20100608 RGD mRNA, protein:increased expression, increased activity:kidney 621316 Mmp2 matrix metallopeptidase 2 gene DOID:13241 Behcet's disease ISO RGD:730821 D RGD:8657044|PMID:17949555 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:13375 temporal arteritis ISO RGD:730821 D RGD:8657040|PMID:17502363 20140528 RGD protein:increased activity:temporal artery 621316 Mmp2 matrix metallopeptidase 2 gene DOID:13580 cholestasis treatment IEP D RGD:8552699|PMID:21274875 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730821 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm IEP D RGD:5129489|PMID:20621845 20110331 RGD mRNA, protein:increased expression:aorta 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730822 D RGD:1582608|PMID:16159824 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:1582351|PMID:16820601 20190122 RGD associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome treatment ISO RGD:730822 D RGD:13204796|PMID:18178469 20170719 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1574 alcohol use disorder IEP D RGD:13207311|PMID:24966898 20170725 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1727 retinal vein occlusion ISO RGD:730821 D RGD:8657048|PMID:23791966 20140528 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730821 D RGD:8657057|PMID:21624249 20140528 RGD protein:increased expression:nasal mucosa 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:2325752|PMID:11961486 20100608 RGD protein:increased activity:pancreatic juice 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:2325766|PMID:7635566 20100609 RGD mRNA:increased expression:pancreas 621316 Mmp2 matrix metallopeptidase 2 gene DOID:182 calcinosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis IEP D RGD:1582628|PMID:16317521 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ameliorates ISO RGD:730822 D RGD:242905202|PMID:31757932 20230328 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis treatment ISO RGD:730822 D RGD:8657031|PMID:20370796 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia IDA D RGD:8547930|PMID:11592852 20140228 RGD protein:increased activity, increased expression:brain 621316 Mmp2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:8657086|PMID:24828425 20140529 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:2316 brain ischemia IEP D RGD:1582577|PMID:15963646 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730821 D RGD:153344572|PMID:22419013 20220826 RGD protein:increased expression:colon (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:2349 arteriosclerosis ISO RGD:730821 D RGD:1582580|PMID:12526080 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:255 hemangioma ISO RGD:730821 D RGD:8657063|PMID:19821096 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:2615 papilloma treatment ISO RGD:730822 D RGD:8657035|PMID:20619141 20140528 RGD associated with Skin Neoplasms 621316 Mmp2 matrix metallopeptidase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:730821 D RGD:2290349|PMID:16901349 20080311 RGD protein:increased expression:plasma 621316 Mmp2 matrix metallopeptidase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:730821 D RGD:8657064|PMID:20541540 20140528 RGD DNA:SNPs, haplotype:promoter:multiple 621316 Mmp2 matrix metallopeptidase 2 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:730821 D RGD:5130203|PMID:17786346 20110408 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:289 endometriosis IEP D RGD:2325695|PMID:20056200 20100607 RGD mRNA:increased expression:endometrium 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma severity ISO RGD:730821 D RGD:7207145|PMID:7616276 20130122 RGD protein:increased expression:brain (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3070 high grade glioma treatment IEP D RGD:8657080|PMID:19292920 20140529 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:321 tropical spastic paraparesis ISO RGD:730821 D RGD:8657078|PMID:10464559 20140529 RGD associated with Sjogren's Syndrome 621316 Mmp2 matrix metallopeptidase 2 gene DOID:326 ischemia ISO RGD:730822 D RGD:1582562|PMID:12842442 20061113 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730822 D RGD:13204793|PMID:20441996 20170719 RGD protein:increased expression:skin of body, spinal cord 621316 Mmp2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:730821 D RGD:7207054|PMID:19796283 20130117 RGD protein:increased expression:serum, cerebrospinal fluid (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3347 osteosarcoma ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25605016 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3407 carotid artery disease ISO RGD:730821 D RGD:1582626|PMID:16339461 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3526 cerebral infarction ISO RGD:730821 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:730821 D RGD:2325746|PMID:17377415 20100608 RGD protein:increased expression:pancreas 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730821 D RGD:152600903|PMID:24789592 20220525 RGD protein:increased activity: esophagus 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 621316 Mmp2 matrix metallopeptidase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730821 D RGD:5130739|PMID:17143501 20110412 RGD protein:increased expression, increased activity:lung 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4079 heart valve disease ISO RGD:730821 D RGD:13204818|PMID:24093773 20170720 RGD protein:increased expression:serum 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration no_association ISO RGD:730821 D RGD:8657041|PMID:23536957 20140528 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration susceptibility ISO RGD:730821 D RGD:8657039|PMID:18359774 20140528 RGD DNA:silent mutation:cds:c.1380G>A (rs2287074) (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730821 D RGD:2290358|PMID:18035688 20080310 RGD mRNA:decreased expression:kidney 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730821 D RGD:2290359|PMID:17572184 20080310 RGD protein:increased expression:kidney 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma IEP D RGD:2324667|PMID:15213623 20100609 RGD protein:increased expression:bile duct 621316 Mmp2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730821 D RGD:2325769|PMID:19629755 20100609 RGD protein:increased expression:bile duct 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15763341|PMID:26396155 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis treatment IEP D RGD:8657103|PMID:23411180 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:520 aortic disease ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5517 stomach carcinoma IEP D RGD:2325777|PMID:20434464 20100609 RGD mRNA, protein:increased expression, increased activity:stomach 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730821 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction IDA D RGD:7207136|PMID:11179039 20130122 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction IEP D RGD:1582587|PMID:10773235 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 621316 Mmp2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure IEP D RGD:2290467|PMID:10773234 20080313 RGD mRNA:increased expression:heart left ventricle 621316 Mmp2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:730821 D RGD:8694112|PMID:20606426 20140724 RGD protein:increased expression:heart left ventricle, plasma 621316 Mmp2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure severity ISO RGD:730821 D RGD:1582574|PMID:16169329 20140224 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:6195 conjunctivitis treatment IDA D RGD:8657047|PMID:23378729 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:730821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621316 Mmp2 matrix metallopeptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm IDA D RGD:1582579|PMID:15300177 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20080313 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:2325698|PMID:20016209 20100607 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:730821 D RGD:1582621|PMID:16458924 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm treatment IDA D RGD:13207313|PMID:21256058 20170725 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm treatment IEP D RGD:8657104|PMID:24484904 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:783 end stage renal disease ISO RGD:730821 D RGD:7207051|PMID:19886850 20130117 RGD associated with Hypertension; protein:increased expression:plasma (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:820 myocarditis ISO RGD:730822 D RGD:1582352|PMID:16533694 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:824 periodontitis IEP D RGD:2325939|PMID:16845949 20100615 RGD protein:increased expression: periodontal ligament 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8398 osteoarthritis ISO RGD:730821 D RGD:7207131|PMID:15194590 20130122 RGD protein:increased expression:synovial fluid (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:730821 D RGD:8657060|PMID:21658319 20140528 RGD protein:increased expression:skin 621316 Mmp2 matrix metallopeptidase 2 gene DOID:869 cholesteatoma ISO RGD:730821 D RGD:8657059|PMID:19484988 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8725 vascular dementia IEP D RGD:1582624|PMID:16385583 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma ISO RGD:730821 D RGD:13204786|PMID:12404291 20170719 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma ISO RGD:730821 D RGD:8657055|PMID:20966734 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma severity ISO RGD:730821 D RGD:8657075|PMID:18251742 20140529 RGD mRNA:increased expression:skin 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:1582582|PMID:12714657 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:8547849|PMID:18552985 20140226 RGD protein:increased expression:plasma 621316 Mmp2 matrix metallopeptidase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:730821 D RGD:2290402|PMID:16619570 20080311 RGD protein:increased expression:uterine cervix 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:730821 D RGD:2325743|PMID:18665467 20100608 RGD protein:increased expression:gallbladder 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:8657106|PMID:24436993 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730821 D RGD:8655998|PMID:23280016 20140527 RGD associated with Carcinoma, Ductal, Breast 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730821 D RGD:8547824|PMID:23107277 20140225 RGD associated with Tongue Neoplasms 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:13207328|PMID:23323009 20170725 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000113 Pneumococcal Meningitis treatment IMP D RGD:8657111|PMID:24419461 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000438 Subarachnoid Hemorrhage IDA D RGD:8657107|PMID:22475348 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000784 Fibrosis IEP D RGD:2325790|PMID:20108118 20100610 RGD protein:increased expression:liver 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000918 Disease Progression ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000955 Acute Otitis Media ISO RGD:730822 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:increased expression:middle ear (mouse) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:8547884|PMID:16158251 20140227 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:2325743|PMID:18665467 20100608 RGD associated with Gallbladder Neoplasms; protein:increased expression:gallbladder 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:2325749|PMID:12173379 20100608 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:730821 D RGD:6480655|PMID:21382035 20120329 RGD mRNA:increased expression:gingival tissues (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis treatment IDA D RGD:13207324|PMID:24820783 20170725 RGD associated with Atherosclerosis 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment IDA D RGD:13207327|PMID:25314292 20170725 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730822 D RGD:8657062|PMID:21666238 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730821 D RGD:8549735|PMID:23064462 20140402 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps treatment ISO RGD:730821 D RGD:8656001|PMID:21305560 20140527 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:25380136 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2325734|PMID:19539802 20100608 RGD mRNA, protein:increased expression, increased activity:liver 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2325736|PMID:19528495 20100608 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730821 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13204971|PMID:23384615 20170724 RGD associated with Diabetes Mellitus, Experimental 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002221 Hyperplasia IEP D RGD:2325718|PMID:19726059 20100607 RGD protein:increased expression:serum 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:13204803|PMID:17367869 20170719 RGD DNA:SNP:promoter:-1306C>T (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002484 Maxillary Diseases ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002514 Neointima ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002514 Neointima treatment IEP D RGD:13207403|PMID:23344254 20170727 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002522 Embolism ISO RGD:730821 D RGD:1582578|PMID:15920147 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10698078 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:730821 D RGD:2298519|PMID:18424416 20080707 RGD DNA:SNP:promoter:-735C>T 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:2325703|PMID:19922364 20100607 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:730822 D RGD:7207133|PMID:15259001 20130122 RGD protein:increased activity:liver, spleen (mouse) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730821 D RGD:8656000|PMID:22554030 20140527 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:730822 D RGD:7207202|PMID:20598569 20130123 RGD associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730821 D RGD:2290402|PMID:16619570 20080311 RGD protein:increased expression:uterine cervix 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730821 D RGD:5130872|PMID:19786210 20110413 RGD protein:increased expression:nasal mucosa: 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:730821 D RGD:7207083|PMID:17898039 20130121 RGD protein:increased activity:urine (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:730822 D RGD:8547868|PMID:15364410 20140226 RGD protein:increased activity:brain 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003871 Venous Thrombosis IDA D RGD:1582570|PMID:16171603 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003871 Venous Thrombosis IEP D RGD:2325775|PMID:20515599 20100609 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9003936 Cardiomegaly IEP D RGD:1582627|PMID:16327176 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004080 Aortic Rupture ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004484 Sepsis treatment IMP D RGD:8657110|PMID:23479197 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730821 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004610 Acute Lung Injury IEP D RGD:13207316|PMID:23040778 20170725 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:8657108|PMID:23073243 20140602 RGD associated with Hypertension, Renovascular 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9004657 Weight Gain ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:730821 D RGD:2290363|PMID:16884384 20080310 RGD protein:increased expression:syncytiotrophoblast cell 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer IEP D RGD:1582595|PMID:16934674 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:730821 D RGD:1582583|PMID:12452868 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17607721 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2325823|PMID:19725228 20100610 RGD protein:increased expression:mammary gland 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730821 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:730822 D RGD:8657038|PMID:23359979 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005372 Inflammation ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24795235 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:1642040|PMID:17398390 20080313 RGD protein:increased expression:ileal vein 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:730822 D RGD:13204800|PMID:23924957 20170719 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006081 Osteolysis ISO RGD:730821 D RGD:1601416|PMID:16542393 20070419 RGD OMIM:277950, Winchester syndrome 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:5130174|PMID:17913382 20110407 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:8547910|PMID:9327785 20140227 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006309 Mandibular Diseases ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17400654 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:7240710 20131030 OMIM 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis IEP D RGD:4144855|PMID:9175058 20130123 RGD mRNA:increased expression:renal glomerulus (rat) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007096 Stroke IEP D RGD:2325713|PMID:19840223 20100607 RGD protein:increased expression: : 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:730821 D RGD:1582617|PMID:16599837 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15763341 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007480 Hyperoxia IEP D RGD:8547972|PMID:15128910 20140304 RGD protein:decreased expression, decreased activity:lung 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007590 Gouty Arthritis severity ISO RGD:730821 D RGD:8547877|PMID:14687896 20140227 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:730821 D RGD:2290360|PMID:17009991 20080310 RGD protein:increased expression:endometrium 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730822 D RGD:1582614|PMID:16699069 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:8657084|PMID:23889688 20140529 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:730821 D RGD:5130711|PMID:17611666 20110411 RGD associated with pleurisy; protein:decreased activity:pleura 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:730821 D RGD:7207047|PMID:20708474 20130117 RGD protein:increased expression:skin (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9007971 Nose Neoplasms ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16178123 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms treatment IEP D RGD:8657112|PMID:23149858 20140602 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008527 Chlamydophila Infections ISO RGD:730821 D RGD:1582580|PMID:12526080 20061114 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:730821 D RGD:8547885|PMID:23559867 20140227 RGD protein:increased expression:serum 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17400654|PMID:17440987 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:18507500 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:2290392|PMID:17642161 20080311 RGD protein:increased expression:breast 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:8655999|PMID:17851253 20140527 RGD DNA:SNP:promoter:-1306C>T (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:2290401|PMID:16949931 20080311 RGD protein:decreased expression:serum 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:8547818|PMID:15538048 20140224 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21091666 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:730821 D RGD:8657030|PMID:21091666 20140528 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9256 colorectal cancer ISO RGD:730821 D RGD:151893289|PMID:30789971 20220420 RGD human cells in mouse model 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9282 ocular hypertension IEP D RGD:2325732|PMID:19575923 20100608 RGD mRNA, protein:increased expression:eye 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730821 D RGD:7207195|PMID:17320450 20130123 RGD protein:increased expression:plasma (human) 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9477 pulmonary embolism IDA D RGD:1582630|PMID:16304337 20061115 RGD 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema IEP D RGD:4892307|PMID:19897563 20110413 RGD protein:increased activity:lung 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 621316 Mmp2 matrix metallopeptidase 2 gene DOID:9743 diabetic neuropathy ISO RGD:730821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345848 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:28434932 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345848 D RGD:8694097|PMID:21871427 20140724 RGD mRNA, protein:increased expression:lung 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0060224 atrial fibrillation ISO RGD:1345848 D RGD:8693675|PMID:20935575 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0060903 thrombosis ISO RGD:1345848 D RGD:7207048|PMID:20616161 20180108 RGD associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1612insA (rs35068180) (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0080855 Parkinsonism treatment IEP D RGD:8693688|PMID:22498097 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:1345848 D RGD:7207084|PMID:16164636 20130121 RGD protein:increased expression:renal glomeruli (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:10140 dry eye syndrome ISO RGD:733756 D RGD:8662938|PMID:22590618 20140627 RGD protein:increased expression:corneal epithelium 621317 Mmp3 matrix metallopeptidase 3 gene DOID:1059 intellectual disability ISO RGD:1345848 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621317 Mmp3 matrix metallopeptidase 3 gene DOID:10608 celiac disease ISO RGD:1345848 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 621317 Mmp3 matrix metallopeptidase 3 gene DOID:10808 gastric ulcer IEP D RGD:10043177|PMID:15375341 20150518 RGD mRNA:increased expression:stomach 621317 Mmp3 matrix metallopeptidase 3 gene DOID:10983 Alport syndrome ISO RGD:1345848|RGD:733756 D RGD:7241252|PMID:16509766 20130306 RGD protein:increased expression:kidney 621317 Mmp3 matrix metallopeptidase 3 gene DOID:1222 cartilage disease IEP D RGD:2325860|PMID:20153826 20100614 RGD mRNA:increased expression:articular cartilage 621317 Mmp3 matrix metallopeptidase 3 gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:8552731|PMID:20056896 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1345848 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621317 Mmp3 matrix metallopeptidase 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1345848 D RGD:8693671|PMID:19332626 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:13001 carotid stenosis ISO RGD:1345848 D RGD:1580553|PMID:12364729 19990101 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:13139 crescentic glomerulonephritis IEP D RGD:7241255|PMID:11095647 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:1324 lung cancer ISO RGD:1345848 D RGD:5129491|PMID:20216542 20110331 RGD protein:decreased expression:pleural fluid 621317 Mmp3 matrix metallopeptidase 3 gene DOID:14175 von Hippel-Lindau disease onset ISO RGD:1345848 D RGD:7241233|PMID:19551141 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:1561 cognitive disorder IEP D RGD:8694114|PMID:22363061 20140724 RGD protein:increased expression:brain 621317 Mmp3 matrix metallopeptidase 3 gene DOID:1612 breast cancer ISO RGD:1345848 D RGD:8693321|PMID:17058024 20140709 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:219 colon cancer treatment IEP D RGD:2316492|PMID:20043115 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:2349 arteriosclerosis ISO RGD:1345848 D RGD:1580550|PMID:15823277 20110711 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:2508 Takayasu's arteritis treatment ISO RGD:1345848 D RGD:8693315|PMID:23100088 20140709 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:2921 glomerulonephritis IEP D RGD:8694105|PMID:23224597 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:2921 glomerulonephritis ISO RGD:1345848 D RGD:7241253|PMID:15034162 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:1345848 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3042 allergic contact dermatitis IEP D RGD:2325935|PMID:16977379 20100615 RGD mRNA:increased expression:skin, lymph node 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3042 allergic contact dermatitis ISO RGD:733756 D RGD:8693317|PMID:10359808 20140709 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3069 malignant astrocytoma ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3319 lymphangioleiomyomatosis treatment ISO RGD:733756 D RGD:8693678|PMID:23035046 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8662692 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:7207049|PMID:17893005 20130117 RGD DNA:insertion, haplotype:promoter:g.-1613insA rs3025058 (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3393 coronary artery disease ISO RGD:1345848 D RGD:8693322|PMID:16100452 20140709 RGD associated with Mucocutaneous Lymph Node Syndrome 621317 Mmp3 matrix metallopeptidase 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733756 D RGD:8694097|PMID:21871427 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:418 systemic scleroderma ISO RGD:1345848 D RGD:8693674|PMID:15498049 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:418 systemic scleroderma severity ISO RGD:1345848 D RGD:8693663|PMID:12051403 20140717 RGD protein:increased expression:serum 621317 Mmp3 matrix metallopeptidase 3 gene DOID:4247 coronary restenosis ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8662692 621317 Mmp3 matrix metallopeptidase 3 gene DOID:4250 conjunctivochalasis ISO RGD:1345848 D RGD:8693314|PMID:20019361 20140709 RGD protein:increased expression:conjunctiva 621317 Mmp3 matrix metallopeptidase 3 gene DOID:4450 renal cell carcinoma ISO RGD:1345848 D RGD:7207067|PMID:15319295 20130118 RGD DNA:missense mutation:cds:p.E45K rs679620 (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:4450 renal cell carcinoma ISO RGD:1345848 D RGD:7241233|PMID:19551141 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1345848 D RGD:7207058|PMID:19321798 20130117 RGD DNA:insertion:promoter:g.-1613insA rs3025058 (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:574 peripheral nervous system disease ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18754875 621317 Mmp3 matrix metallopeptidase 3 gene DOID:5844 myocardial infarction ISO RGD:1345848 D RGD:1580551|PMID:15467919 19990101 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:6000 congestive heart failure ISO RGD:1345848 D RGD:8694112|PMID:20606426 20140724 RGD protein:increased expression:heart left ventricle, plasma 621317 Mmp3 matrix metallopeptidase 3 gene DOID:630 genetic disease ISO RGD:1345848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621317 Mmp3 matrix metallopeptidase 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345848 D RGD:7207128|PMID:7639798 20130122 RGD protein:increased expression:serum (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345848 D RGD:7241254|PMID:11796404 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1345848 D RGD:8693673|PMID:22314025 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20080313 RGD protein:increased expression:aorta (rat) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:783 end stage renal disease severity ISO RGD:1345848 D RGD:7207064|PMID:19221176 20130118 RGD DNA:insertion, haplotype:promoter:g.-1613insA (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:824 periodontitis IEP D RGD:2325862|PMID:19961752 20100614 RGD protein:increased expression:serum 621317 Mmp3 matrix metallopeptidase 3 gene DOID:83 cataract ISO RGD:1345848 D RGD:8693669|PMID:17062942 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:8398 osteoarthritis ISO RGD:1345848 D RGD:7207089|PMID:16128596 20130121 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:8398 osteoarthritis ISO RGD:1345848 D RGD:7207131|PMID:15194590 20130122 RGD protein:increased expression:synovial fluid (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:853 polymyalgia rheumatica ISO RGD:1345848 D RGD:7241254|PMID:11796404 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:90 degenerative disc disease IEP D RGD:8661231|PMID:20948465 20140724 RGD mRNA:increased expression:intervertebral disc 621317 Mmp3 matrix metallopeptidase 3 gene DOID:90 degenerative disc disease treatment IEP D RGD:2325859|PMID:20472983 20100614 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345848 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human) PMID:15161710|REF_RGD_ID:8662937 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1345848 D RGD:8662937|PMID:15161710 20140627 RGD associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000528 Coronary Disease ISO RGD:1345848 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000528 Coronary Disease ISO RGD:1345848 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 6 PMID:10190398|PMID:10351963|PMID:12477941|PMID:12485468|PMID:7727178|PMID:8662692|PMID:9699891 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1345848 D RGD:7240710 20190502 OMIM 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000656 Penetrating Wounds IEP D RGD:8694117|PMID:21649785 20140724 RGD associated with Diabetes Mellitus, Type 2 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000955 Acute Otitis Media ISO RGD:733756 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:increased expression:middle ear (mouse) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:8547884|PMID:16158251 20140227 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:2325934|PMID:17027671 20100615 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2325929|PMID:17094476 20100615 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:1345848 D RGD:7241226|PMID:22845765 20130305 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345848 D RGD:7241249|PMID:9211353 20130306 RGD protein: decreased expression: glomerulus 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002211 Hyperalgesia IMP D RGD:8693664|PMID:22056600 20140717 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002211 Hyperalgesia ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18754875 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002331 Knee Osteoarthritis treatment IMP D RGD:8694098|PMID:22114772 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:8694124|PMID:24244039 20140724 RGD mRNA:increased expression:ankle joint 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:733756 D RGD:7241231|PMID:20703013 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:8549748|PMID:24011916 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:8693318|PMID:21679445 20140709 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733756 D RGD:8694124|PMID:24244039 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:8694100|PMID:21038694 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9003871 Venous Thrombosis IEP D RGD:2325775|PMID:20515599 20100611 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2325962|PMID:15099024 20100615 RGD protein:increased protein, activity:brain 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9004283 Transplant Rejection ISO RGD:1345848 D RGD:7241226|PMID:22845765 20130305 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20188714|PMID:26284488 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9005175 Ulcer ISO RGD:1345848 D RGD:8693676|PMID:15750195 20140717 RGD associated with Melanoma 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:8662909|PMID:10428026 20140626 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9005930 Endotoxemia IEP D RGD:2290426|PMID:17083784 20080312 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:8547910|PMID:9327785 20140227 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9007096 Stroke treatment IEP D RGD:8694111|PMID:24194350 20140724 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9007590 Gouty Arthritis ISO RGD:1345848 D RGD:7241254|PMID:11796404 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9008 psoriatic arthritis ISO RGD:1345848 D RGD:7241254|PMID:11796404 20130306 RGD 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9008331 Tendon Injuries IEP D RGD:8694102|PMID:23042903 20140724 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:tendon 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1345848 D RGD:7207065|PMID:17125518 20130118 RGD DNA:insertion, haplotype:promoter:g.-1612insA (human) 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345848 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9351 diabetes mellitus ISO RGD:1345848 D RGD:8693313|PMID:11159210 20140709 RGD mRNA:increased expression:retina 621317 Mmp3 matrix metallopeptidase 3 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:8694120|PMID:23204894 20140724 RGD 621318 Mterf1 mitochondrial transcription termination factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736231 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621318 Mterf1 mitochondrial transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:736231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621319 Fgr FGR proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:733253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621319 Fgr FGR proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733253 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0002116 pterygium disease_progression ISO RGD:1348437 D RGD:8657043|PMID:19420332 20140528 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050127 sinusitis ISO RGD:1348437 D RGD:5130763|PMID:20392482 20110412 RGD protein:increased expression:: 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050697 chorioamnionitis severity ISO RGD:1348437 D RGD:13204828|PMID:12712078 20170720 RGD protein:increased expression:respiratory system fluid/secretion 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy ISO RGD:1348437 D RGD:1581215|PMID:16681691 19990101 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy treatment ISO RGD:731911 D RGD:13204757|PMID:21810612 20170718 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348437 D RGD:13204808|PMID:14504963 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050827 rheumatic heart disease ISO RGD:1348437 D RGD:1582623|PMID:16406300 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea ISO RGD:1348437 D RGD:5130877|PMID:19652426 20110413 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea disease_progression ISO RGD:1348437 D RGD:5129212|PMID:20836084 20110329 RGD protein:increased expression:palatopharyngeal muscle 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis IDA D RGD:7207203|PMID:20406136 20130123 RGD associated with Hyperhomocysteinemia 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis IEP D RGD:8547929|PMID:9300240 20140228 RGD associated with Obesity;mRNA:decreased expression:glomerulus 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050855 renal fibrosis IEP D RGD:13204847|PMID:23006043 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1348437 D RGD:11535375|PMID:26581505 20220825 RGD protein:increased expression:tongue (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060001 withdrawal disorder ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348437 D RGD:13204755|PMID:25466251 20170718 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:731911 D RGD:13204755|PMID:25466251 20170718 RGD protein:increased expression:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1348437 D RGD:2290436|PMID:14744773 20080312 RGD protein:increased expression:breast 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:8547896|PMID:18194448 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:8549736|PMID:19734590 20140402 RGD protein:increased expression:papillary muscle of left ventricle 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0060903 thrombosis ISO RGD:1348437 D RGD:7207048|PMID:20616161 20180108 RGD associated with Arteriovenous Fistula;DNA:snp:promoter:g.-1562C>A (rs34016235) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080162 lupus nephritis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080176 meningococcal meningitis IEP D RGD:8547971|PMID:10430840 20140304 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080177 hepatic veno-occlusive disease IEP D RGD:13204885|PMID:23303633 20170724 RGD protein:increased expression:blood, liver, lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080207 CAKUT2 treatment ISO RGD:1348437 D RGD:13204792|PMID:27448803 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080685 aortic dissection treatment ISO RGD:731911 D RGD:156420156|PMID:33403385 20230219 RGD Apolipoprotein E knockout 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080745 polymyositis ISO RGD:1348437 D RGD:8547876|PMID:11157561 20140227 RGD mRNA:increased expression:skeletal muscle 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080746 Sweet syndrome ISO RGD:1348437 D RGD:8657060|PMID:21658319 20140528 RGD protein:increased expression:skin 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:731911 D RGD:13204850|PMID:15075439 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18554282 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0081292 traumatic brain injury ISO RGD:1348437 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 621320 Mmp9 matrix metallopeptidase 9 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:1348437 D RGD:13204823|PMID:23720035 20170720 RGD protein:increased expression:urine 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10223 dermatomyositis ISO RGD:1348437 D RGD:8547876|PMID:11157561 20140227 RGD mRNA:increased expression:skeletal muscle 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10534 stomach cancer ameliorates ISO RGD:1348437 D RGD:150520156|PMID:26432329 20211026 RGD human cells in mouse model 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348437 D RGD:13204814|PMID:23185624 20170720 RGD protein:increased expression:cerebrospinal fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:1348437 D RGD:2290399|PMID:17083831 20080311 RGD mRNA, protein:decreased expression:placenta 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:731911 D RGD:13204787|PMID:23776237 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:106 pleural tuberculosis ISO RGD:1348437 D RGD:5129700|PMID:18715875 20110405 RGD protein:increased expression:pleura: 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10652 Alzheimer's disease ISO RGD:1348437 D RGD:7207052|PMID:17697439 20130117 RGD protein:increased expression:plasma (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1348437 D RGD:8549725|PMID:20808730 20140402 RGD DNA:insertion: :p.Q279R (rs17576) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1073 renal hypertension IDA D RGD:1302333|PMID:12923405 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension IEP D RGD:2290351|PMID:17977875 20080310 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:1582532|PMID:15363819 20080311 RGD protein:decreased expression:internal mammary artery 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:1582612|PMID:16840178 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension susceptibility ISO RGD:1348437 D RGD:1642029|PMID:16780738 20070829 RGD associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer IEP D RGD:1642033|PMID:17603938 20070829 RGD protein:increased expression:stomach secretion 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603938 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:1348437 D RGD:13204849|PMID:24633733 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm IEP D RGD:1642055|PMID:17122420 20070830 RGD mRNA, protein:increased expression:artery 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm IEP D RGD:2290352|PMID:17569872 20080310 RGD mRNA:increased expression:blood vessel 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm IEP D RGD:8547935|PMID:23844137 20140228 RGD associated with Diabetes Mellitus, Experimental 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:13204853|PMID:9310982 20170724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:155882593|PMID:32602008 20230201 RGD protein:increased expression:artery 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1348437 D RGD:1582646|PMID:16961137 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm treatment IDA D RGD:13204858|PMID:21937941 20170724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:1348437 D RGD:8547870|PMID:15620146 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:10976 membranous glomerulonephritis IEP D RGD:8547919|PMID:8613533 20140228 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:2290395|PMID:17466450 20080311 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11294 arteriovenous malformation ISO RGD:1348437 D RGD:1582655|PMID:16720380 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348437 D RGD:5129208|PMID:21211006 20110329 RGD protein:increased expression:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11446 sciatic neuropathy treatment IEP D RGD:13207330|PMID:25172308 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11476 osteoporosis ISO RGD:1348437 D RGD:5129553|PMID:19411568 20110404 RGD associated with osteoporosis; protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:731911 D RGD:5129685|PMID:19097983 20110405 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1348437 D RGD:1642030|PMID:16490430 20070829 RGD associated with Diabetes Mellitus, Type 2 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:731911 D RGD:13204809|PMID:23977226 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348437 D RGD:5130889|PMID:18585501 20110413 RGD protein:increased expression:plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:8552731|PMID:20056896 20140724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:12510 retinal ischemia treatment IEP D RGD:10755711|PMID:23537149 20170724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:12662 paracoccidioidomycosis ISO RGD:731911 D RGD:8657058|PMID:19765107 20140528 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:731911 D RGD:5130726|PMID:17254480 20110411 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:12858 Huntington's disease IEP D RGD:13204827|PMID:21175737 20170720 RGD protein:increased expression:striatum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:8547814|PMID:15316122 20140224 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:8547858|PMID:9923658 20140226 RGD protein:increased activity:saliva 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:2325738|PMID:19357873 20100608 RGD mRNA, protein:increased expression, increased activity:kidney 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13139 crescentic glomerulonephritis IEP D RGD:2313720|PMID:16046515 20130122 RGD protein:increased expression:renal cortex (rat) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:8547820|PMID:22116092 20140224 RGD protein:increased expression:plasma, platelets 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:8657044|PMID:17949555 20140528 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:1580575|PMID:15998676 19990101 RGD protein:increased expression:temporal artery (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:8547826|PMID:8843867 20140225 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:8547902|PMID:18512818 20140227 RGD DNA:SNP:CDS:rs2250889 (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:8657040|PMID:17502363 20140528 RGD protein:increased activity:temporal artery 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis no_association ISO RGD:1348437 D RGD:8547902|PMID:18512818 20140227 RGD DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:1348437 D RGD:1580170|PMID:12626459 20140225 RGD protein:increased expression:blood 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:731911 D RGD:8547899|PMID:18311803 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13515 tuberous sclerosis ISO RGD:1348437 D RGD:8547829|PMID:22459050 20140225 RGD protein:increased expression:cerebral cortex 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:8547816|PMID:17110919 20140224 RGD DNA:SNP: :rs2664538 (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:8547830|PMID:21655354 20140225 RGD DNA:SNPs: :rs17576, rs3918249 (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:8549724|PMID:23441116 20140402 RGD DNA:SNP: :c.836A>G (rs17576) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1348437 D RGD:8549724|PMID:23441116 20140402 RGD DNA:SNP:promoter:-1562C>T (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:1348437 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1348437 D RGD:8549725|PMID:20808730 20140402 RGD DNA:insertion: :p.Q279R (rs17576) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13714 anodontia ISO RGD:1348437 D RGD:13204812|PMID:24351915 20170720 RGD DNA:SNP: :rs17576 (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:13934 facial paralysis ISO RGD:731911 D RGD:8547852|PMID:23817985 20140226 RGD associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm IEP D RGD:5129489|PMID:20621845 20110331 RGD mRNA, protein:increased expression:aorta 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:1580554|PMID:16678588 19990101 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased activity:aorta (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14250 Down syndrome ISO RGD:1348437 D RGD:13204810|PMID:24519975 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome ISO RGD:1348437 D RGD:13204755|PMID:25466251 20170718 RGD protein:increased expression:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome treatment ISO RGD:731911 D RGD:11572344|PMID:26850918 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 621320 Mmp9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome treatment ISO RGD:731911 D RGD:13204796|PMID:18178469 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:13204794|PMID:25545245 20170719 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:5130723|PMID:17526676 20110411 RGD protein:increased expression:bronchoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1561 cognitive disorder IEP D RGD:8694114|PMID:22363061 20140724 RGD protein:increased expression:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1574 alcohol use disorder IEP D RGD:13207311|PMID:24966898 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1657 ventricular septal defect severity ISO RGD:1348437 D RGD:13204804|PMID:21238444 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1686 glaucoma ISO RGD:1348437 D RGD:8547817|PMID:16185954 20140224 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:8547836|PMID:22178867 20140226 RGD protein:increased expression:middle ear 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:8547895|PMID:18254958 20140227 RGD mRNA:increased expression:tongue 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:8657057|PMID:21624249 20140528 RGD protein:increased expression:nasal mucosa 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:731911 D RGD:8547854|PMID:11081634 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:2325766|PMID:7635566 20100609 RGD mRNA:increased expression:pancreas 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:731911 D RGD:2325849|PMID:18445772 20100611 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:731911 D RGD:2325854|PMID:18030366 20100611 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1348437 D RGD:2325831|PMID:19629003 20100611 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:182 calcinosis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1824 status epilepticus IEP D RGD:8547922|PMID:17928157 20140228 RGD mRNA:increased expression:hippocampus, astrocyte, dendrite 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1825 childhood absence epilepsy IEP D RGD:8547934|PMID:20303372 20140228 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:1826 epilepsy ISO RGD:1348437 D RGD:13204763|PMID:23182966 20170718 RGD protein:increased expression:cerebral cortex, hippocampus 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2123 tularemia ISO RGD:731911 D RGD:5130727|PMID:17202364 20110411 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2234 focal epilepsy IEP D RGD:8547934|PMID:20303372 20140228 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2234 focal epilepsy ISO RGD:1348437 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621320 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia IDA D RGD:8547930|PMID:11592852 20140228 RGD protein:increased activity, increased expression:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:731911 D RGD:8547921|PMID:16197500 20140228 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13207320|PMID:24773551 20170727 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13207323|PMID:23046750 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia IDA D RGD:1582611|PMID:16846501 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15060315 621320 Mmp9 matrix metallopeptidase 9 gene DOID:234 colon adenocarcinoma ISO RGD:1348437 D RGD:153344572|PMID:22419013 20220826 RGD protein:increased expression:colon (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis IDA D RGD:1582628|PMID:16317521 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:1348437 D RGD:1580550|PMID:15823277 20110711 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:13204754|PMID:23401127 20170718 RGD mRNA:increased expression:blood, mononuclear cell 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:13204848|PMID:20471697 20170721 RGD DNA:SNP, repeat:promoter:-1562C>T (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis no_association ISO RGD:1348437 D RGD:13204826|PMID:10713364 20170720 RGD DNA:repeat, SNP:promoter 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348437 D RGD:13204795|PMID:19628284 20170719 RGD DNA:SNP:promoter:-1562C>T (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1348437 D RGD:13204825|PMID:16412833 20170720 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:1348437 D RGD:8693315|PMID:23100088 20140709 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2560 morphine dependence ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348437 D RGD:5130759|PMID:20417130 20110412 RGD protein:increased expression, increased activity:bronchoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma IEP D RGD:2325953|PMID:16191269 20100615 RGD mRNA, protein:increased expression:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11742282|PMID:15131573 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:5129204|PMID:21439806 20110329 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:5129522|PMID:19940022 20110401 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:5129687|PMID:19361849 20110405 RGD protein:increased expression:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:5130859|PMID:20181264 20110413 RGD DNA:SNP: : rs2664538(human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1348437 D RGD:2298523|PMID:12487935 20080707 RGD protein:increased expression:endometrium 621320 Mmp9 matrix metallopeptidase 9 gene DOID:289 endometriosis IEP D RGD:2325792|PMID:20085636 20100610 RGD mRNA:increased expression:endometrium 621320 Mmp9 matrix metallopeptidase 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:731911 D RGD:5130746|PMID:16982845 20110412 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis IEP D RGD:2325935|PMID:16977379 20100615 RGD mRNA:increased expression:skin, lymph node 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:731911 D RGD:8547869|PMID:10415717 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:731911 D RGD:8693317|PMID:10359808 20140709 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma severity ISO RGD:1348437 D RGD:7207145|PMID:7616276 20130122 RGD protein:increased expression:brain (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma treatment ISO RGD:1348437 D RGD:8547973|PMID:12439751 20140304 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3069 malignant astrocytoma ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:5130207|PMID:17643278 20110408 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:5130857|PMID:20185904 20110413 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19299917 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:5129553|PMID:19411568 20110404 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1348437 D RGD:5130149|PMID:18619044 20110406 RGD DNA:polymorphism:promoter:-1562C-->T (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1348437 D RGD:5129494|PMID:20160424 20110331 RGD DNA:polymorphism: :-1562C-->T (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13207319|PMID:25842729 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:326 ischemia ISO RGD:731911 D RGD:1582640|PMID:15047130 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3310 atopic dermatitis treatment ISO RGD:731911 D RGD:13204759|PMID:27776525 20170718 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1348437 D RGD:5129697|PMID:18760908 20110405 RGD protein:increased expression:serum, plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731911 D RGD:13204793|PMID:20441996 20170719 RGD protein:increased expression:skin of body, spinal cord 621320 Mmp9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1348437 D RGD:7207054|PMID:19796283 20130117 RGD protein:increased expression:serum, cerebrospinal fluid (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348437 D RGD:8547829|PMID:22459050 20140225 RGD protein:increased expression:cerebral cortex 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1348437 D RGD:1582644|PMID:15191941 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease treatment IEP D RGD:11344965|PMID:26261622 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3407 carotid artery disease ISO RGD:1348437 D RGD:1582626|PMID:16339461 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3454 brain infarction ISO RGD:1348437 D RGD:1582617|PMID:16599837 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13204729|PMID:24842554 20170724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3526 cerebral infarction ISO RGD:1348437 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:2325830|PMID:20332475 20100611 RGD protein:increased expression:blood 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:2325844|PMID:18706098 20100611 RGD protein:increased expression:pancreas, serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3627 aortic aneurysm ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10231640 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348437 D RGD:152600903|PMID:24789592 20220525 RGD protein:increased activity: esophagus 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis IEP D RGD:1642054|PMID:17121240 20070830 RGD protein:increased expression:lung, plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:13204970|PMID:23318412 20170724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21789004 621320 Mmp9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348437 D RGD:5129215|PMID:20704821 20110329 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4079 heart valve disease ISO RGD:1348437 D RGD:13204818|PMID:24093773 20170720 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:409 liver disease ISO RGD:1348437 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 621320 Mmp9 matrix metallopeptidase 9 gene DOID:418 systemic scleroderma ISO RGD:1348437 D RGD:1580577|PMID:15642145 19990101 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4195 hyperglycemia IEP D RGD:1642027|PMID:17272778 20070829 RGD associated with Brain Ischemia 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4250 conjunctivochalasis ISO RGD:1348437 D RGD:8693314|PMID:20019361 20140709 RGD protein:increased expression:conjunctiva 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration ISO RGD:1348437 D RGD:7829793|PMID:22490043 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration severity ISO RGD:1348437 D RGD:10053644|PMID:22773904 20150716 RGD protein:increased expression:vitreous humor 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1348437 D RGD:2290358|PMID:18035688 20080310 RGD mRNA:increased expression:kidney 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1348437 D RGD:13204851|PMID:23894602 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4724 brain edema IEP D RGD:5490126|PMID:20541575 20120321 RGD associated with Cerebral Hemorrhage 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15529013 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1348437 D RGD:13204790|PMID:25562781 20170719 RGD protein:increased expression:esophagus 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma IEP D RGD:2324667|PMID:15213623 20100609 RGD protein:increased expression:bile duct 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:2324667|PMID:15213623 20100609 RGD protein:increased expression:bile duct 621320 Mmp9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:2325856|PMID:16463672 20100611 RGD mRNA:increased expression:bile duct 621320 Mmp9 matrix metallopeptidase 9 gene DOID:520 aortic disease ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1348437 D RGD:13204856|PMID:10408538 20170724 RGD protein:increased expression:sural nerve 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5517 stomach carcinoma IEP D RGD:2325777|PMID:20434464 20100609 RGD mRNA, protein:increased expression, increased activity:stomach 621320 Mmp9 matrix metallopeptidase 9 gene DOID:552 pneumonia ISO RGD:731911 D RGD:5130157|PMID:18007984 20110406 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:557 kidney disease IEP D RGD:1642041|PMID:17392157 20070829 RGD protein:decreased expression:kidney 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5679 retinal disease ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5773 oral submucous fibrosis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction IDA D RGD:1582653|PMID:16845718 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction IEP D RGD:7207198|PMID:8531210 20130123 RGD protein:increased expression, increased activity:heart left ventricle (rat) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:1582645|PMID:15118287 20061116 RGD protein:increased expression:coronary artery, plasma (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:13204799|PMID:25520329 20170719 RGD protein:increased expression:heart left ventricle 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:1582639|PMID:14729404 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348437 D RGD:7207049|PMID:17893005 20130117 RGD DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure IDA D RGD:7207137|PMID:11342481 20130122 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure IEP D RGD:5130174|PMID:17913382 20110407 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:1582647|PMID:16952784 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:8694112|PMID:20606426 20140724 RGD protein:increased expression:heart left ventricle, plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:630 genetic disease ISO RGD:1348437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension IDA D RGD:7207217|PMID:23087098 20130124 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension IEP D RGD:1642053|PMID:17133179 20070830 RGD associated with Pulmonary Embolism;protein:increased expression:lung, plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:1642028|PMID:16867026 20070829 RGD associated with Heart Failure, Congestive;protein:decreased expression:monocyte 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:5129210|PMID:21063214 20110329 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension severity ISO RGD:1348437 D RGD:5130155|PMID:18355767 20110406 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:646 viral encephalitis ISO RGD:1348437 D RGD:5130920|PMID:17529876 20110414 RGD associated with influenza; protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:6688 autoimmune lymphoproliferative syndrome disease_progression ISO RGD:731911 D RGD:13204846|PMID:21376533 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 621320 Mmp9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:731911 D RGD:8547864|PMID:21681821 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1348437 D RGD:1582623|PMID:16406300 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:769 neuroblastoma ISO RGD:1348437 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 621320 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 621320 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348437 D RGD:1582641|PMID:16432074 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 621320 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm treatment IDA D RGD:13207313|PMID:21256058 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:799 varicose veins ISO RGD:1348437 D RGD:1582620|PMID:16465063 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:820 myocarditis ISO RGD:731911 D RGD:1582352|PMID:16533694 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:824 periodontitis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22808498|PMID:24640096 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8398 osteoarthritis ISO RGD:1348437 D RGD:7207131|PMID:15194590 20130122 RGD protein:increased expression:synovial fluid, serum (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8440 ileus IEP D RGD:8547906|PMID:23079570 20140227 RGD mRNA, protein:increased expression:jejunum, colon, peritoneal fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease IMP D RGD:5129531|PMID:19545667 20110401 RGD lung injury; mRNA, protein:increased expression:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease IMP D RGD:5129548|PMID:19494493 20110404 RGD lung injury associated with pancreatitis, acute necrotizing 621320 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:1348437 D RGD:5129490|PMID:20335295 20110331 RGD protein:increased expression:bronchoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8506 bullous pemphigoid ISO RGD:731911 D RGD:8547843|PMID:9687525 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8549 chronic ulcer of skin susceptibility ISO RGD:1348437 D RGD:8547865|PMID:21455563 20140226 RGD associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8553 pyoderma gangrenosum ISO RGD:1348437 D RGD:8657060|PMID:21658319 20140528 RGD protein:increased expression:skin 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8577 ulcerative colitis ISO RGD:1348437 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:22119283 621320 Mmp9 matrix metallopeptidase 9 gene DOID:869 cholesteatoma ISO RGD:1348437 D RGD:8657059|PMID:19484988 20140528 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:1348437 D RGD:5129533|PMID:19535150 20110401 RGD protein:increased expression:bronchoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:731911 D RGD:5130727|PMID:17202364 20110411 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8869 neuromyelitis optica ISO RGD:1348437 D RGD:8547883|PMID:21621856 20140227 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8881 rosacea ISO RGD:1348437 D RGD:8547821|PMID:10509643 20140224 RGD protein:increased expression:tear 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma ISO RGD:1348437 D RGD:13204786|PMID:12404291 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma disease progression ISO RGD:1348437 D RGD:8547886|PMID:17346338 20140227 RGD DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:1348437 D RGD:1582616|PMID:16643893 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:731911 D RGD:8547857|PMID:21933988 20140226 RGD associated with Diabetes Mellitus, Experimental 621320 Mmp9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1348437 D RGD:8547815|PMID:10374894 20140224 RGD associated with Diabetes Mellitus, Type 2 621320 Mmp9 matrix metallopeptidase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348437 D RGD:7207194|PMID:10644865 20130123 RGD protein:increased expression:plasma (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12791993|PMID:25763638 20170307 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348437 D RGD:2298523|PMID:12487935 20080707 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:5129215|PMID:20704821 20110329 RGD associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:8547824|PMID:23107277 20140225 RGD associated with Tongue Neoplasms 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:13207328|PMID:23323009 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:1642043|PMID:17371820 20070829 RGD protein:increased expression:cerebrospinal fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis treatment IMP D RGD:8657111|PMID:24419461 20140602 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1348437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:731911 D RGD:8547831|PMID:23714264 20140225 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:1642039|PMID:17410600 20070829 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1348437 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348437 D RGD:5129522|PMID:19940022 20110401 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000784 Fibrosis IEP D RGD:2325790|PMID:20108118 20100610 RGD protein:increased expression:liver 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000787 Tachycardia, Atrioventricular Nodal Reentry treatment ISO RGD:1348437 D RGD:13204852|PMID:15175065 20170721 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:7240710 20130221 OMIM 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 PMID:16631427|PMID:18035073|PMID:19615667|PMID:20605480|PMID:22942228|PMID:25741868|PMID:26207422|PMID:26489027|PMID:28492532|PMID:34407464 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000918 Disease Progression ISO RGD:1348437 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:731911 D RGD:5130156|PMID:18223162 20110406 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000955 Acute Otitis Media ISO RGD:731911 D RGD:127284853|PMID:21889218 20210610 RGD mRNA:increased expression:middle ear (mouse) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:8547884|PMID:16158251 20140227 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:8547928|PMID:8912869 20140228 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:16475674|PMID:18930813|PMID:21209944|PMID:21942447|PMID:34626302 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:2325749|PMID:12173379 20100608 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:8547861|PMID:16033831 20140226 RGD associated with Melanoma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:8547886|PMID:17346338 20140227 RGD associated with skin melanoma;DNA:missense mutation:cds:p.Q279R (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:5510000|PMID:21859454 20140224 RGD associated with Mammary Neoplasms, Animal; associated with Arthritis, Experimental 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:8547878|PMID:18676849 20140227 RGD associated with Mammary Neoplasms, Animal 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:2325855|PMID:17378244 20100611 RGD associated with carcinoma, pancreatic ductal; protein:increased expression:pancreas 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1348437 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries IDA D RGD:1582656|PMID:16671440 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19631748 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries treatment IMP D RGD:13207312|PMID:24661104 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001004 Chronic Periodontitis treatment IDA D RGD:13207324|PMID:24820783 20170725 RGD associated with Atherosclerosis 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1348437 D RGD:8657061|PMID:17304258 20140528 RGD protein:increased expression:plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:731911 D RGD:8547840|PMID:12368198 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization treatment IDA D RGD:13207327|PMID:25314292 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1348437 D RGD:13204811|PMID:19615667 20170719 RGD DNA:missense mutations: :p.M1K (c.21T>A)(human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:1642042|PMID:17374579 20070829 RGD protein:increased expression:liver 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps ISO RGD:1348437 D RGD:8549735|PMID:23064462 20140402 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps disease_progression ISO RGD:1348437 D RGD:8657056|PMID:23987197 20140528 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1348437 D RGD:5130861|PMID:19958602 20110413 RGD associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001488 Human Influenza ISO RGD:731911 D RGD:5130855|PMID:20299740 20110413 RGD protein:increased activity:lung, heart, brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001542 Albuminuria onset ISO RGD:1348437 D RGD:7207214|PMID:9774113 20130124 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15095483 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2325734|PMID:19539802 20100608 RGD mRNA, protein:increased expression, increased activity:liver 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2325736|PMID:19528495 20100608 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001627 Pathologic Constriction susceptibility ISO RGD:1348437 D RGD:1582642|PMID:16159601 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002056 Arterial Injury treatment IDA D RGD:6484736|PMID:22552115 20140408 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:8547976|PMID:17255325 20140304 RGD associated with Fatty Liver;mRNA, protein:decreased expression, decreased activity:liver 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1348437 D RGD:8547866|PMID:11576356 20140226 RGD associated with Diabetes Mellitus, Type 2;DNA:repeat:promoter 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:13204971|PMID:23384615 20170724 RGD associated with Diabetes Mellitus, Experimental 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002221 Hyperplasia ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15728660 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002457 Experimental Arthritis IEP D RGD:1642035|PMID:17463159 20070829 RGD protein:increased expression:cartilage, serum, synovial fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002467 Mycoplasma Infections IEP D RGD:1642046|PMID:17217365 20070829 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002514 Neointima ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002514 Neointima treatment IEP D RGD:13207403|PMID:23344254 20170727 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002522 Embolism ISO RGD:1348437 D RGD:1582655|PMID:16720380 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14630814|PMID:15488484|PMID:15529013|PMID:16190367|PMID:19095969 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731911 D RGD:1582637|PMID:17021183 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:8547909|PMID:9549496 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731911 D RGD:13204762|PMID:20810258 20170718 RGD protein:increased expression:multiple tissues 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IEP D RGD:8547936|PMID:22800566 20140228 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:731911 D RGD:13204801|PMID:24797785 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002884 Emphysema treatment IEP D RGD:13207325|PMID:22633097 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure IEP D RGD:8547897|PMID:21964536 20140227 RGD protein:increased expression:multiple tissues 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15259001 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:731911 D RGD:7207133|PMID:15259001 20130122 RGD protein:increased activity:liver, lung, spleen (mouse) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms IDA D RGD:5135051|PMID:21268133 20120322 RGD protein:increased expression, increased activity:large intestine mucosa 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15725655 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms disease_progression IEP D RGD:2325778|PMID:20428773 20100609 RGD mRNA:increased expression:colon 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:13204857|PMID:23905389 20170724 RGD associated with Arthritis, Experimental 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:731911 D RGD:13204817|PMID:23144938 20170720 RGD associated with Cardiomegaly;mRNA:increased expression:heart 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1348437 D RGD:5130916|PMID:18391843 20110414 RGD protein:increased expression:brochoalveolar lavage fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003386 Sunburn susceptibility ISO RGD:1348437 D RGD:8547886|PMID:17346338 20140227 RGD associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003507 Premature Birth ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24429678 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:1348437 D RGD:5130203|PMID:17786346 20110408 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1348437 D RGD:5130872|PMID:19786210 20110412 RGD protein:increased expression:nasal mucosa: 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1348437 D RGD:7207083|PMID:17898039 20130121 RGD protein:increased activity:urine (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:731911 D RGD:8547868|PMID:15364410 20140226 RGD protein:increased activity:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:731911 D RGD:8547867|PMID:20483026 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis HEP D RGD:2325775|PMID:20515599 20100609 RGD mRNA:increased expression:femoral vein (rat) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:731911 D RGD:1582648|PMID:16920980 20061116 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9003936 Cardiomegaly IEP D RGD:1642047|PMID:17207419 20070829 RGD mRNA:increased expression:heart left ventricle 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury IMP D RGD:5129531|PMID:19545667 20110401 RGD associated with lung injury; mRNA, protein:increased expression:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:1582618|PMID:16551680 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:1582631|PMID:16251419 20061115 RGD protein:increased expression:limb muscle (mouse) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004080 Aortic Rupture ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:731911 D RGD:13204816|PMID:25760549 20170720 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004389 Bone Neoplasms ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004464 Skin Neoplasms ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis treatment IMP D RGD:8657110|PMID:23479197 20140602 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19617202|PMID:19700239|PMID:20188714|PMID:21187089|PMID:22503731|PMID:23867902|PMID:24333868 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004610 Acute Lung Injury IEP D RGD:13207316|PMID:23040778 20170725 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9004739 Cicatrix treatment IDA D RGD:13207326|PMID:23076999 20170725 RGD associated with Wounds, Penetrating 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:5129491|PMID:20216542 20110331 RGD associated with lung disease; protein:decreased expression:pleural fluid 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:5130173|PMID:17914564 20110407 RGD Pulmonary Sclerosing Hemangioma; mRNA, protein:increased expression:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2325823|PMID:19725228 20100610 RGD mRNA, protein:increased expression:mammary gland 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731911 D RGD:8657038|PMID:23359979 20140528 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005269 Stable Angina ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24429678|PMID:24795235 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:731911 D RGD:8547835|PMID:16489579 20140226 RGD mRNA:increased expression:skin 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1348437 D RGD:1642031|PMID:16280123 20070829 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:1642040|PMID:17398390 20070829 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:731911 D RGD:13204800|PMID:23924957 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2290354|PMID:17569353 20080310 RGD protein:increased expression:kidney 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8547881|PMID:23423566 20140227 RGD mRNA:increased expression:retina 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21963884|PMID:22191573 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:8547974|PMID:23089644 20140304 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9005941 Rhinosinusitis ISO RGD:1348437 D RGD:8547880|PMID:23401274 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:5130174|PMID:17913382 20110407 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:8547910|PMID:9327785 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9006205 Animal Disease Models ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:9685357|PMID:9546322 20150105 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9006827 Lung Reperfusion Injury IEP D RGD:5129703|PMID:18694576 20110405 RGD protein:increased activity:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:731911 D RGD:8547891|PMID:16384971 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007096 Stroke IEP D RGD:1582635|PMID:16051896 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007096 Stroke IEP D RGD:2325825|PMID:19556529 20100610 RGD protein:increased expression, increased activity:brain, plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:1348437 D RGD:1582615|PMID:16690896 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348437 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia IEP D RGD:8547972|PMID:15128910 20140304 RGD mRNA, protein:decreased expression, decreased activity:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:731911 D RGD:5130148|PMID:18658276 20110406 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007590 Gouty Arthritis severity ISO RGD:1348437 D RGD:8547877|PMID:14687896 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348437 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:14700523|PMID:19617202|PMID:22011395|PMID:30090327 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007730 Burns IEP D RGD:1642051|PMID:17156757 20070829 RGD mRNA, protein:increased expression:brain 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:1348437 D RGD:5130711|PMID:17611666 20110411 RGD associated with pleurisy; protein:decreased activity:pleura 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348437 D RGD:7207047|PMID:20708474 20130117 RGD protein:increased expression:skin (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9007956 Febrile Seizures ISO RGD:1348437 D RGD:5130920|PMID:17529876 20110414 RGD associated with influenza; protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1348437 D RGD:8547819|PMID:22237587 20140224 RGD DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008212 Diabetic Foot severity ISO RGD:1348437 D RGD:8547813|PMID:22688339 20140224 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008225 Respirovirus Infections IEP D RGD:5130923|PMID:16816895 20110414 RGD mRNA, protein:increased expression, increased activity:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:1348437 D RGD:8547829|PMID:22459050 20140225 RGD protein:increased expression:cerebral cortex 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008443 Colorectal Neoplasms treatment IEP D RGD:8657112|PMID:23149858 20140602 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:1348437 D RGD:8547885|PMID:23559867 20140227 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008691 Liver Injury IEP D RGD:7207088|PMID:10933221 20130121 RGD protein:increased expression:liver (rat) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008914 Lead Poisoning ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16700817 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:8547827|PMID:23570558 20140225 RGD DNA:SNPs, haplotype:rs17577, rs3787268 (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:8547837|PMID:21159820 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:2290343|PMID:18172859 20080310 RGD protein:increased expression:serum 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:8547818|PMID:15538048 20140224 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:8547839|PMID:21151179 20140226 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1348437 D RGD:8547893|PMID:20725776 20140227 RGD DNA:SNPs:promoter, CDS:rs3918241, rs2274756 (p.R668Q) (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer ISO RGD:1348437 D RGD:152985531|PMID:21839130 20220607 RGD mRNA:increased expresion:colorectum (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:1348437 D RGD:153297782|PMID:32682784 20220726 RGD human cells in mouse model 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731911 D RGD:13204791|PMID:24739303 20170719 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9282 ocular hypertension IEP D RGD:2325732|PMID:19575923 20100608 RGD mRNA, protein:increased expression:eye 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:7207195|PMID:17320450 20130123 RGD protein:increased expression:plasma (human) 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:8547849|PMID:18552985 20140226 RGD protein:increased expression:plasma 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:8694120|PMID:23204894 20140724 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9470 bacterial meningitis ISO RGD:1348437 D RGD:8547971|PMID:10430840 20140304 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9477 pulmonary embolism IDA D RGD:1582630|PMID:16304337 20061115 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9563 bronchiectasis ISO RGD:1348437 D RGD:5129526|PMID:19725099 20110401 RGD protein:increased expression: : 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema IEP D RGD:4892307|PMID:19897563 20110413 RGD protein:increased activity:lung 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:5130151|PMID:18408070 20110406 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1348437 D RGD:8547887|PMID:14605041 20140227 RGD 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9743 diabetic neuropathy ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731911 D RGD:13204760|PMID:23632630 20170718 RGD protein:increased expression:kidney 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 621320 Mmp9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:1642026|PMID:17512313 20070829 RGD protein:increased expression:plasma 621321 Myo1d myosin ID gene DOID:12849 autistic disorder ISO RGD:1349117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 621321 Myo1d myosin ID gene DOID:630 genetic disease ISO RGD:1349117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621322 Rfng RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1345692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621322 Rfng RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9004657 Weight Gain ISO RGD:1345692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621323 Phox2a paired-like homeobox 2a gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:733682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 621323 Phox2a paired-like homeobox 2a gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:7240710 20130221 OMIM 621323 Phox2a paired-like homeobox 2a gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 PMID:11600883|PMID:25741868 621323 Phox2a paired-like homeobox 2a gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 621323 Phox2a paired-like homeobox 2a gene DOID:1059 intellectual disability ISO RGD:733682 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621323 Phox2a paired-like homeobox 2a gene DOID:630 genetic disease ISO RGD:733682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621323 Phox2a paired-like homeobox 2a gene DOID:9000784 Fibrosis ISO RGD:733682 D RGD:1599902|PMID:11600883 20070220 RGD 621323 Phox2a paired-like homeobox 2a gene DOID:9352 type 2 diabetes mellitus ISS RGD:733683 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 621324 Pdxk pyridoxal kinase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2303021|PMID:3225873 20090127 RGD protein:decreased expression:brain 621325 As3mt arsenite methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25461954 621325 As3mt arsenite methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:1350697 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:22747749|PMID:29669044|PMID:29859237|PMID:32539094 621325 As3mt arsenite methyltransferase gene DOID:5419 schizophrenia ISO RGD:1350697 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 621325 As3mt arsenite methyltransferase gene DOID:630 genetic disease ISO RGD:1350697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621325 As3mt arsenite methyltransferase gene DOID:9003996 Birth Weight ISO RGD:1350697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26928318 621325 As3mt arsenite methyltransferase gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1350697 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 621325 As3mt arsenite methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1350697 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:24361376 621325 As3mt arsenite methyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1350697 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 621325 As3mt arsenite methyltransferase gene DOID:9007964 Arsenic Poisoning ISO RGD:1350697 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21447609|PMID:26366667|PMID:35226250 621325 As3mt arsenite methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1350697 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28235556 621326 Arl1 ADP-ribosylation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:732961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621327 Arl5a ADP-ribosylation factor like GTPase 5A gene DOID:0110928 nemaline myopathy 2 ISO RGD:1346010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 621327 Arl5a ADP-ribosylation factor like GTPase 5A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346010 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 621327 Arl5a ADP-ribosylation factor like GTPase 5A gene DOID:630 genetic disease ISO RGD:1346010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:7240710 20220831 OMIM 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA PMID:25741868|PMID:28492532|PMID:32313153|PMID:34140661 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:7240710 20220831 OMIM 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:16199547|PMID:17576681|PMID:25595726|PMID:25597510|PMID:25597511|PMID:25650066|PMID:25741868|PMID:26916670|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28554332|PMID:28687938|PMID:32219827|PMID:32313153|PMID:32573439|PMID:34115842|PMID:34140661|PMID:34782754|PMID:35616898|PMID:9536098 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:1059 intellectual disability ISO RGD:731315 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:11252 microcytic anemia ISO RGD:731315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:34140661 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:1227 neutropenia ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25597510|PMID:25597511|PMID:25741868|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28687938|PMID:34782754 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:630 genetic disease ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25597510|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28554332|PMID:28687938 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:7240710 20220427 OMIM 621328 Clpb ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant PMID:28492532|PMID:34115842 621329 Rassf9 Ras association domain family member 9 gene DOID:630 genetic disease ISO RGD:731307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:0080074 neural tube defect ISO RGD:1604349 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neural tube defect 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:10485 esophageal atresia ISO RGD:1604349 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604349 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551408 D RGD:14390071|PMID:23910655 20190218 RGD 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:4752 multiple system atrophy ISO RGD:1604349 D RGD:14390070|PMID:27875637 20190218 RGD protein:increased expression:brain 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:630 genetic disease ISO RGD:1604349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1604349 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 621330 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604349 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 621331 Muc4 mucin 4, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:735893 D RGD:2324916|PMID:18475301 20100514 RGD protein:increased expression:bile,biliary tract 621331 Muc4 mucin 4, cell surface associated gene DOID:0080178 mucositis IEP D RGD:2303603|PMID:18998135 20130923 RGD protein:decreased expression:intestine 621331 Muc4 mucin 4, cell surface associated gene DOID:0080599 Coronavirus infectious disease ISS RGD:735894 D RGD:13592920 20200730 MouseDO 621331 Muc4 mucin 4, cell surface associated gene DOID:10754 otitis media IEP D RGD:2303743|PMID:11576628 20090224 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear 621331 Muc4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:735893 D RGD:7349395|PMID:14690056 20130924 RGD mRNA:increased expression:middle ear 621331 Muc4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis ISO RGD:735894 D RGD:7349400|PMID:11581187 20130924 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:735893 D RGD:7349351|PMID:17177679 20130920 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:11382 corneal neovascularization IEP D RGD:7349391|PMID:17169838 20130924 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:12895 keratoconjunctivitis sicca ISO RGD:735894 D RGD:7349377|PMID:14507865 20130923 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:1324 lung cancer ISO RGD:735893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 621331 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:2324891|PMID:11751498 20100514 RGD mRNA:increased expression:pancreas 621331 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:2324914|PMID:20303649 20100514 RGD protein:increased expression:pancreas 621331 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:2324922|PMID:17595659 20100517 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:2324931|PMID:16274046 20100517 RGD mRNA:increased expression:peripheral blood mononuclear cell 621331 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735893 D RGD:2324923|PMID:17406026 20100517 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:3030 mucinous adenocarcinoma severity ISO RGD:735893 D RGD:2324927|PMID:17079945 20100517 RGD associated with pancreatic disease;protein:increased expression:pancreas 621331 Muc4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735893 D RGD:2324946|PMID:12657964 20100526 RGD mRNA:increased expression:pancreas 621331 Muc4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735893 D RGD:2324942|PMID:16049287 20100517 RGD protein:increased expression:pancreas 621331 Muc4 mucin 4, cell surface associated gene DOID:3905 lung carcinoma ISO RGD:735893 D RGD:5131258|PMID:11596032 20110426 RGD protein:altered expression:lung 621331 Muc4 mucin 4, cell surface associated gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735893 D RGD:5131208|PMID:17126950 20110425 RGD protein:increased expression:trachea 621331 Muc4 mucin 4, cell surface associated gene DOID:4450 renal cell carcinoma ISO RGD:735893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 621331 Muc4 mucin 4, cell surface associated gene DOID:4608 common bile duct neoplasm ISO RGD:735893 D RGD:2324890|PMID:8143972 20100514 RGD protein:increased expression:pancreas 621331 Muc4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma IEP D RGD:2303602|PMID:19082442 20090219 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735893 D RGD:2324944|PMID:14752841 20100517 RGD protein:increased expression:bile duct 621331 Muc4 mucin 4, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:735893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 621331 Muc4 mucin 4, cell surface associated gene DOID:684 hepatocellular carcinoma ISO RGD:735893 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 621331 Muc4 mucin 4, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735893 D RGD:2324921|PMID:18397823 20100517 RGD mRNA,protein:increased expression:gallbladder 621331 Muc4 mucin 4, cell surface associated gene DOID:9000965 Neoplasm Metastasis IMP D RGD:2303746|PMID:10918186 20090224 RGD associated with Melanoma 621331 Muc4 mucin 4, cell surface associated gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:7364757|PMID:21775928 20130926 RGD mRNA:decreased expression:bile duct 621331 Muc4 mucin 4, cell surface associated gene DOID:9002231 Fetal Growth Retardation IEP D RGD:7349369|PMID:19287349 20130923 RGD 621331 Muc4 mucin 4, cell surface associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:735893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621331 Muc4 mucin 4, cell surface associated gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:735893 D RGD:2324929|PMID:16857800 20100517 RGD protein:increased expression:bile duct 621331 Muc4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections IEP D RGD:2303607|PMID:16689826 20090219 RGD mRNA:increased expression:intestine 621331 Muc4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:735894 D RGD:7364766|PMID:21155842 20130926 RGD protein:increased expression:cecum, glycocalyx 621331 Muc4 mucin 4, cell surface associated gene DOID:9003281 Spontaneous Abortions ISO RGD:735893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 621331 Muc4 mucin 4, cell surface associated gene DOID:9004283 Transplant Rejection IEP D RGD:7349372|PMID:12717211 20130923 RGD 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732444 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:732444 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732444 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9001911 Craniosynostosis and Dental Anomalies ISO RGD:732444 D RGD:7240710 20140911 OMIM 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9001911 Craniosynostosis and Dental Anomalies ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis and dental anomalies PMID:21741611|PMID:25741868|PMID:34906502 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732444 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9004649 Heat Stroke ISO RGD:1553290 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732444 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621332 Il11ra1 interleukin 11 receptor subunit alpha 1 gene DOID:9870 galactosemia ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:11286505|PMID:15841485|PMID:17079880|PMID:22944367|PMID:28492532 621333 Stag3 STAG3 cohesin complex component gene DOID:0070168 spermatogenic failure 3 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31682730|PMID:35176428 621333 Stag3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:7240710 20140911 OMIM 621333 Stag3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 8 PMID:24597867|PMID:25741868|PMID:28393351|PMID:30006057 621333 Stag3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:7240710 20211222 OMIM 621333 Stag3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 61 PMID:25741868|PMID:31125047|PMID:31682730 621333 Stag3 STAG3 cohesin complex component gene DOID:10787 premature menopause ISO RGD:737601 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868 621333 Stag3 STAG3 cohesin complex component gene DOID:1924 hypogonadism ISO RGD:737601 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 621333 Stag3 STAG3 cohesin complex component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737601 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621333 Stag3 STAG3 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:737601 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:35176428 621333 Stag3 STAG3 cohesin complex component gene DOID:630 genetic disease ISO RGD:737601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621333 Stag3 STAG3 cohesin complex component gene DOID:9007456 Female Infertility ISO RGD:737601 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Female infertility PMID:25741868 621334 Syngr2 synaptogyrin 2 gene DOID:630 genetic disease ISO RGD:732040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621335 Nsa2 NSA2 ribosome biogenesis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1607078 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 621335 Nsa2 NSA2 ribosome biogenesis factor gene DOID:3323 Sandhoff disease ISO RGD:1607078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 621335 Nsa2 NSA2 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1607078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621335 Nsa2 NSA2 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607078 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621337 Sult2a1 sulfotransferase family 2A member 1 gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:1344997 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:28492532|PMID:30557390 621337 Sult2a1 sulfotransferase family 2A member 1 gene DOID:10283 prostate cancer no_association ISO RGD:1344997 D RGD:6893649|PMID:16617014 20120914 RGD DNA:missense mutations:cds:p.A63P (187G>C), p.A261T (781G>A) (human) 621337 Sult2a1 sulfotransferase family 2A member 1 gene DOID:10283 prostate cancer severity ISO RGD:1344997 D RGD:6893648|PMID:22542949 20120914 RGD DNA:SNP:intron: (rs2547238) (human) 621337 Sult2a1 sulfotransferase family 2A member 1 gene DOID:630 genetic disease ISO RGD:1344997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621337 Sult2a1 sulfotransferase family 2A member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 621337 Sult2a1 sulfotransferase family 2A member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 621338 Ctbs chitobiase gene DOID:630 genetic disease ISO RGD:1351227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621339 Hes3 hes family bHLH transcription factor 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621339 Hes3 hes family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1604433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621339 Hes3 hes family bHLH transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604433 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353774 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353774 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353774 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:630 genetic disease ISO RGD:1353774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:863 nervous system disease ISO RGD:1353774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353774 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353774 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:9007502 Brain Neoplasms ISO RGD:1353774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621340 Hes5 hes family bHLH transcription factor 5 gene DOID:9351 diabetes mellitus IEP D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin: 621341 Nrg1 neuregulin 1 gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:39128257|PMID:16526041 20200929 RGD DNA:SNP:enhancer, haplotype: 621341 Nrg1 neuregulin 1 gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:39456086|PMID:15704228 20201001 RGD DNA:SNP:enhancer, haplotype: 621341 Nrg1 neuregulin 1 gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:7240710 20230505 OMIM 621341 Nrg1 neuregulin 1 gene DOID:0070355 overactive bladder syndrome treatment IEP D RGD:10449030|PMID:24152577 20151214 RGD 621341 Nrg1 neuregulin 1 gene DOID:0080600 COVID-19 ISO RGD:731515 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621341 Nrg1 neuregulin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22974608 621341 Nrg1 neuregulin 1 gene DOID:10595 Charcot-Marie-Tooth disease treatment ISO RGD:731515 D RGD:10449027|PMID:25150498 20151214 RGD 621341 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735609|RGD:731515 D RGD:10449002|PMID:12528817 20151211 RGD 621341 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:731515 D RGD:41404730|PMID:29295823 20210208 RGD 621341 Nrg1 neuregulin 1 gene DOID:10808 gastric ulcer ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16357062 621341 Nrg1 neuregulin 1 gene DOID:11446 sciatic neuropathy treatment IMP D RGD:10449012|PMID:20957456 20151211 RGD 621341 Nrg1 neuregulin 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 621341 Nrg1 neuregulin 1 gene DOID:11832 visual epilepsy IEP D RGD:10449024|PMID:22158510 20151214 RGD 621341 Nrg1 neuregulin 1 gene DOID:1307 dementia treatment ISO RGD:731515 D RGD:10054040|PMID:21473886 20151211 RGD 621341 Nrg1 neuregulin 1 gene DOID:14069 cerebral malaria ISO RGD:735609 D RGD:39456084|PMID:29636063 20201001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) 621341 Nrg1 neuregulin 1 gene DOID:14069 cerebral malaria treatment ISO RGD:731515 D RGD:39456102|PMID:24433482 20201002 RGD human protein in a mouse model 621341 Nrg1 neuregulin 1 gene DOID:1470 major depressive disorder ISO RGD:731515 D RGD:41404730|PMID:29295823 20210208 RGD mRNA:increased expression:prefrontal cortex 621341 Nrg1 neuregulin 1 gene DOID:2394 ovarian cancer treatment ISO RGD:731515 D RGD:39456103|PMID:27998236 20201002 RGD mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human) 621341 Nrg1 neuregulin 1 gene DOID:2468 psychotic disorder no_association ISO RGD:731515 D RGD:10449000|PMID:20182055 20151211 RGD associated with Alzheimer Disease;DNA:missense mutation, SNP:cds, enhancer: (rs3924999, rs35753505) (human) 621341 Nrg1 neuregulin 1 gene DOID:2468 psychotic disorder susceptibility ISO RGD:731515 D RGD:10449035|PMID:16082692 20151215 RGD associated with Alzheimer's disease;DNA:missense mutation, haplotype:cds: (rs3924999) (human) 621341 Nrg1 neuregulin 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:731515 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 621341 Nrg1 neuregulin 1 gene DOID:2773 contact dermatitis ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 621341 Nrg1 neuregulin 1 gene DOID:3178 skin papilloma ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:hypermethylation: PMID:31892232|REF_RGD_ID:39456089 621341 Nrg1 neuregulin 1 gene DOID:3312 bipolar disorder ISO RGD:731515 D RGD:39131291|PMID:18585932 20200930 RGD DNA:SNP:enhancer: (rs35753505) 621341 Nrg1 neuregulin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:731515 D RGD:10449015|PMID:20691195 20151211 RGD 621341 Nrg1 neuregulin 1 gene DOID:399 tuberculosis susceptibility ISO RGD:731515 D RGD:39456091|PMID:25919455 20201001 RGD DNA:SNP, haplotype: (rs16879814) 621341 Nrg1 neuregulin 1 gene DOID:480 movement disease ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22226049 621341 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia IEP D RGD:126790484|PMID:20467458 20210422 RGD protein:increased expression:prefrontal cortex, hippocampus 621341 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12145742|PMID:17333138|PMID:17460065|PMID:17905522|PMID:20561508|PMID:20582876|PMID:20701826 621341 Nrg1 neuregulin 1 gene DOID:571 median neuropathy IEP D RGD:10449020|PMID:19296522 20151211 RGD 621341 Nrg1 neuregulin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:731515 D RGD:10449026|PMID:24200746 20151214 RGD 621341 Nrg1 neuregulin 1 gene DOID:6000 congestive heart failure ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19801490 621341 Nrg1 neuregulin 1 gene DOID:630 genetic disease ISO RGD:731515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621341 Nrg1 neuregulin 1 gene DOID:670 amphetamine abuse ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 621341 Nrg1 neuregulin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621341 Nrg1 neuregulin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731515 D RGD:39456110|PMID:27514687 20201002 RGD mRNA:increased expression:liver (human) 621341 Nrg1 neuregulin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731515 D RGD:39456104|PMID:17393520 20201002 RGD associated with hepatitis C;mRNA:altered expression:liver (human 621341 Nrg1 neuregulin 1 gene DOID:8469 influenza ISO RGD:735609 D RGD:39456087|PMID:19362585 20201001 RGD neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse) 621341 Nrg1 neuregulin 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:731515 D RGD:151893490|PMID:28756200 20220421 RGD 621341 Nrg1 neuregulin 1 gene DOID:9000469 Viral Myocarditis ISO RGD:735609 D RGD:39131284|PMID:31396490 20200930 RGD associated with Coxsackievirus Infections;protein:increased expression:heart (mouse) 621341 Nrg1 neuregulin 1 gene DOID:9000641 Pain ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 621341 Nrg1 neuregulin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621341 Nrg1 neuregulin 1 gene DOID:9002211 Hyperalgesia IEP D RGD:10449019|PMID:22212401 20151211 RGD associated with Sciatic Neuropathy 621341 Nrg1 neuregulin 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731515 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:29305325 621341 Nrg1 neuregulin 1 gene DOID:9002514 Neointima IEP D RGD:2289992|PMID:17438359 20151214 RGD 621341 Nrg1 neuregulin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 621341 Nrg1 neuregulin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731515 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 621341 Nrg1 neuregulin 1 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:10449013|PMID:22285193 20151211 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium 621341 Nrg1 neuregulin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 621341 Nrg1 neuregulin 1 gene DOID:9007956 Febrile Seizures ISO RGD:731515 D RGD:39456106|PMID:16690933 20201002 RGD associated with influenza;mRNA:increased expression:blood (human) 621341 Nrg1 neuregulin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 621341 Nrg1 neuregulin 1 gene DOID:9743 diabetic neuropathy treatment IEP D RGD:10053667|PMID:24288572 20151214 RGD associated with Diabetes Mellitus, Experimental 621342 Sctr secretin receptor gene DOID:630 genetic disease ISO RGD:736213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621342 Sctr secretin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736213 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 621343 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349786 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621343 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:1349786 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621343 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:12849 autistic disorder ISO RGD:1349786 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621343 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:630 genetic disease ISO RGD:1349786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621344 Ctcf CCCTC-binding factor gene DOID:0050671 female breast cancer disease_progression ISO RGD:733105 D RGD:151356743|PMID:32435142 20220211 RGD DNA:missense mutation, silent mutation:Q216H, S1455S, breast (human) 621344 Ctcf CCCTC-binding factor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:733105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 621344 Ctcf CCCTC-binding factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:733105 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 621344 Ctcf CCCTC-binding factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621344 Ctcf CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:7240710 20140911 OMIM 621344 Ctcf CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:29076501|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989|PMID:34657170 621344 Ctcf CCCTC-binding factor gene DOID:0080144 childhood acute lymphocytic leukemia disease_progression ISO RGD:733105 D RGD:151356757|PMID:24393203 20220215 RGD mRNA, protein:increased expression:bone marrow, blood (human) 621344 Ctcf CCCTC-binding factor gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:733105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 621344 Ctcf CCCTC-binding factor gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:733105 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 621344 Ctcf CCCTC-binding factor gene DOID:1059 intellectual disability ISO RGD:733105 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621344 Ctcf CCCTC-binding factor gene DOID:1612 breast cancer severity ISO RGD:733105 D RGD:151356756|PMID:19737964 20220215 RGD protein:alternative form, increased expression:breast tumor (human) 621344 Ctcf CCCTC-binding factor gene DOID:2513 basal cell carcinoma ISO RGD:733105 D RGD:151356739|PMID:27974201 20220210 RGD DNA:mutations:multiple (human) 621344 Ctcf CCCTC-binding factor gene DOID:3151 skin squamous cell carcinoma ISO RGD:733105 D RGD:151356739|PMID:27974201 20220210 RGD DNA:mutations:multiple (human) 621344 Ctcf CCCTC-binding factor gene DOID:3459 breast carcinoma ISO RGD:733105 D RGD:151356910|PMID:15354217 20220216 RGD protein:altered expression:breast tumor (human) 621344 Ctcf CCCTC-binding factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733105 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 621344 Ctcf CCCTC-binding factor gene DOID:630 genetic disease ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989 621344 Ctcf CCCTC-binding factor gene DOID:8923 skin melanoma ISO RGD:733105 D RGD:151356739|PMID:27974201 20220210 RGD DNA:mutations:multiple (human) 621344 Ctcf CCCTC-binding factor gene DOID:9002170 Experimental Neoplasms ISO RGD:733105 D RGD:151356745|PMID:21896759 20220214 RGD human breast cancer cells in mouse model 621344 Ctcf CCCTC-binding factor gene DOID:9007748 Retinal Neovascularization ISO RGD:733106 D RGD:151356745|PMID:21896759 20220214 RGD 621345 Nova1 NOVA alternative splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1346053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621345 Nova1 NOVA alternative splicing regulator 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346053 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621346 Wnt2 Wnt family member 2 gene DOID:10283 prostate cancer ISO RGD:736431 D RGD:727214|PMID:14517837 20080402 RGD mRNA:decreased expression:prostate gland 621346 Wnt2 Wnt family member 2 gene DOID:11832 visual epilepsy IEP D RGD:2326231|PMID:14625142 20080402 RGD mRNA:increased expression:hippocampus 621346 Wnt2 Wnt family member 2 gene DOID:12849 autistic disorder ISO RGD:736431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11449391|PMID:19895723 621346 Wnt2 Wnt family member 2 gene DOID:1612 breast cancer ISO RGD:736431 D RGD:2291874|PMID:15736421 20080402 RGD mRNA:increased expression:breast 621346 Wnt2 Wnt family member 2 gene DOID:2871 endometrial carcinoma ISO RGD:736431 D RGD:2291875|PMID:9099960 20080402 RGD mRNA:decreased expression:endometrium 621346 Wnt2 Wnt family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736431 D RGD:2291879|PMID:7903963 20080402 RGD DNA:amplification:breast 621346 Wnt2 Wnt family member 2 gene DOID:3996 urinary system cancer ISO RGD:736431 D RGD:2291877|PMID:8064891 20080402 RGD DNA:amplification 621346 Wnt2 Wnt family member 2 gene DOID:4450 renal cell carcinoma ISO RGD:736431 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 621346 Wnt2 Wnt family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736431 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621346 Wnt2 Wnt family member 2 gene DOID:630 genetic disease ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621346 Wnt2 Wnt family member 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736431 D RGD:14402040|PMID:28328801 20190524 RGD associated with hepatitis B;DNA:SNP: :rs4730775(human) 621346 Wnt2 Wnt family member 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 621346 Wnt2 Wnt family member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736431 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 621346 Wnt2 Wnt family member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736431 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 621346 Wnt2 Wnt family member 2 gene DOID:9006947 Fibroadenoma ISO RGD:736431 D RGD:2291878|PMID:8168088 20080402 RGD mRNA:increased expression:breast 621346 Wnt2 Wnt family member 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 621347 Myo5b myosin Vb gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:7240710 20130425 OMIM 621347 Myo5b myosin Vb gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy PMID:16199547|PMID:17576681|PMID:18724368|PMID:19006234|PMID:20186687|PMID:21206382|PMID:21282656|PMID:24014347|PMID:24033266|PMID:25111220|PMID:25741868|PMID:26553929|PMID:27242896|PMID:27532546|PMID:28027573|PMID:28492532|PMID:28899465|PMID:29266534|PMID:32304554|PMID:32888943|PMID:33525641|PMID:9536098 621347 Myo5b myosin Vb gene DOID:1059 intellectual disability ISO RGD:736652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 621347 Myo5b myosin Vb gene DOID:13250 diarrhea ISO RGD:736652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 621347 Myo5b myosin Vb gene DOID:5295 intestinal disease ISO RGD:736652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 621347 Myo5b myosin Vb gene DOID:630 genetic disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621347 Myo5b myosin Vb gene DOID:655 inherited metabolic disorder ISO RGD:736652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 621347 Myo5b myosin Vb gene DOID:670 amphetamine abuse ISO RGD:736652 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 621347 Myo5b myosin Vb gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:7240710 20220518 OMIM 621347 Myo5b myosin Vb gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 PMID:18724368|PMID:20186687|PMID:25741868|PMID:27532546|PMID:28027573|PMID:28492532|PMID:32304554|PMID:33525641 621347 Myo5b myosin Vb gene DOID:9007188 Liver Neoplasms ISO RGD:736652 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 621348 Wnt4 Wnt family member 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 621348 Wnt4 Wnt family member 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 621348 Wnt4 Wnt family member 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 621348 Wnt4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:7240710 20130221 OMIM 621348 Wnt4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism PMID:12016514|PMID:15317892|PMID:16959810|PMID:18182450|PMID:18987495|PMID:25741868|PMID:28492532 621348 Wnt4 Wnt family member 4 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:733867 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868 621348 Wnt4 Wnt family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:733867 D RGD:2291875|PMID:9099960 20080725 RGD 621348 Wnt4 Wnt family member 4 gene DOID:3021 acute kidney failure IDA D RGD:727218|PMID:12707392 19990101 RGD 621348 Wnt4 Wnt family member 4 gene DOID:4001 ovarian carcinoma ISO RGD:733867 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 621348 Wnt4 Wnt family member 4 gene DOID:557 kidney disease ISO RGD:733867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11832423 621348 Wnt4 Wnt family member 4 gene DOID:630 genetic disease ISO RGD:733867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621348 Wnt4 Wnt family member 4 gene DOID:9001611 Urogenital Abnormalities ISO RGD:733867 D RGD:1599857|PMID:15317892 20070219 RGD utero-vaginal atresia (MRKH), OMIM:277000 621348 Wnt4 Wnt family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621348 Wnt4 Wnt family member 4 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 621348 Wnt4 Wnt family member 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 621348 Wnt4 Wnt family member 4 gene DOID:9006947 Fibroadenoma ISO RGD:733867 D RGD:2291878|PMID:8168088 20080821 RGD breast fibroadenoma 621348 Wnt4 Wnt family member 4 gene DOID:9007661 Dwarfism ISO RGD:733867 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17505543 621348 Wnt4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:7240710 20130221 OMIM 621348 Wnt4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SERKAL syndrome PMID:18179883|PMID:25741868 621349 Kcnb2 potassium voltage-gated channel subfamily B member 2 gene DOID:630 genetic disease ISO RGD:732631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621349 Kcnb2 potassium voltage-gated channel subfamily B member 2 gene DOID:9256 colorectal cancer ISO RGD:732631 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 621350 Fnbp1 formin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 621350 Fnbp1 formin binding protein 1 gene DOID:630 genetic disease ISO RGD:1350700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080006 bone development disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:17078022|PMID:19344236|PMID:25741868|PMID:27519266|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A PMID:25441681|PMID:28492532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:31414283|PMID:31794058|PMID:7695699|PMID:8218237|PMID:9016532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:7240710 20200318 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:10976985|PMID:11288717|PMID:11317364|PMID:15077201|PMID:15172002|PMID:1556139|PMID:1577745|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990839|PMID:21520333|PMID:21530898|PMID:21801164|PMID:21884818|PMID:22589248|PMID:23158907|PMID:23869235|PMID:24033266|PMID:2454224|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27519266|PMID:2777808|PMID:28017821|PMID:28346524|PMID:28492532|PMID:28725987|PMID:29150909|PMID:2985635|PMID:2993307|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30984112|PMID:31319225|PMID:31414283|PMID:31447884|PMID:32659730|PMID:34422331|PMID:3621666|PMID:3680255|PMID:3733683|PMID:4742738|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7864655|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077201 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:7240710 20130221 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:15077201|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27519266|PMID:28492532|PMID:29150909|PMID:3049731|PMID:30821104|PMID:31414283|PMID:31794058|PMID:32659730|PMID:3383844|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098|PMID:9594376 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0090034 myoclonic dystonia 11 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:12821748|PMID:15389977|PMID:17853490|PMID:23677909|PMID:24297365|PMID:28492532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29656858|PMID:29669177|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30311386|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32770541|PMID:33070251|PMID:3372533|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10627137|PMID:10807697|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1634225|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18798308|PMID:18996919|PMID:19317096|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:2052622|PMID:21239989|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24296239|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:24863959|PMID:25086671|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25436829|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29669177|PMID:29807018|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30311386|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32123938|PMID:32659730|PMID:32667677|PMID:32770541|PMID:32920552|PMID:33070251|PMID:3372533|PMID:33939306|PMID:34025714|PMID:34306033|PMID:34422331|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7891382|PMID:7959683|PMID:8071956|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8456808|PMID:8800927|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:7240710 20130221 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:10807697|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19208385|PMID:19344236|PMID:2052622|PMID:2064612|PMID:21488294|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23934635|PMID:24033266|PMID:24501682|PMID:24668929|PMID:25326635|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28492532|PMID:28498836|PMID:28810924|PMID:29150909|PMID:3023615|PMID:30715774|PMID:30821104|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32770541|PMID:3995789|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7881420|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8728690|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9143923|PMID:9272740|PMID:9594376 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:7240710 20130221 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19344236|PMID:20301472|PMID:2064612|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23934635|PMID:24033266|PMID:24501682|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28492532|PMID:28498836|PMID:28810924|PMID:2897363|PMID:29150909|PMID:29595812|PMID:29669177|PMID:30152103|PMID:30715774|PMID:30821104|PMID:30886339|PMID:32659730|PMID:32667677|PMID:7695699|PMID:7860070|PMID:7881420|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8786065|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9143923|PMID:9240878|PMID:9268111|PMID:9272740|PMID:9594376 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:7240710 20130221 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10027910|PMID:11288717|PMID:11317364|PMID:12362985|PMID:1301191|PMID:1385413|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1711048|PMID:17576681|PMID:1874719|PMID:18996919|PMID:19344236|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21829228|PMID:22589248|PMID:22753364|PMID:24033266|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26938784|PMID:27509835|PMID:27519266|PMID:27748872|PMID:2777764|PMID:2839839|PMID:28492532|PMID:2914942|PMID:29150909|PMID:2952379|PMID:29656858|PMID:30715774|PMID:30821104|PMID:32659730|PMID:3372533|PMID:3383844|PMID:6191221|PMID:7695699|PMID:7860070|PMID:7959683|PMID:8094076|PMID:8218237|PMID:8482361|PMID:9016532|PMID:9272740|PMID:9536098|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:10941 intracranial aneurysm ISO RGD:730984 D RGD:1581199|PMID:14739420 19990101 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:7240710 20130221 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:15172002|PMID:16705691|PMID:16786509|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:29150909|PMID:2985635|PMID:30283887|PMID:30821104|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:11667066|PMID:21341209 20170113 RGD DNA:mutation:exon:c.87T > C(human) 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:1581197|PMID:16705691 19990101 RGD DNA:snp:cds:p.G328S (human) 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:734804|PMID:2567784 20150112 RGD DNA:mutations, haplotype (human) 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16705691|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3403536|PMID:458828|PMID:6092353|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730985 D RGD:7248772|PMID:8446583 20130819 RGD DNA:deletion:exon:3983del (mouse) 621351 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISS RGD:730985 D RGD:13592920 20180518 MouseDO 621351 Col1a2 collagen type I alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730984 D RGD:1581198|PMID:15077201 19990101 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11288717|PMID:15077201|PMID:1577745|PMID:16199547|PMID:1634225|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18996919|PMID:19344236|PMID:1990839|PMID:21239989|PMID:21520333|PMID:21801164|PMID:24033266|PMID:25741868|PMID:25944380|PMID:26402641|PMID:26467025|PMID:27056980|PMID:28492532|PMID:3049731|PMID:3383844|PMID:34025714|PMID:3621666|PMID:3733683|PMID:7695699|PMID:7864655|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098 621351 Col1a2 collagen type I alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:15172002|PMID:18028452|PMID:1978725|PMID:25741868|PMID:26264438|PMID:26432670|PMID:27011056|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:9399846|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:1459 hypothyroidism IEP D RGD:7257542|PMID:8745212 20130822 RGD mRNA:increased expression:heart ventricle 621351 Col1a2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10027910|PMID:11288717|PMID:11317364|PMID:11359465|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2052622|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:27056980|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29807018|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31363794|PMID:31414283|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3680255|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7693712|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7891382|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:2010058|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21912751|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:34422331|PMID:458828|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:3770 pulmonary fibrosis IEP D RGD:7257543|PMID:7511187 20130822 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15077201 621351 Col1a2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:1581196|PMID:16816023 19990101 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:1581198|PMID:15077201 19990101 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:16705691|PMID:17078022|PMID:19344236|PMID:23227268|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26788535|PMID:27510842|PMID:28492532|PMID:30152103|PMID:30715774|PMID:30886339|PMID:31429852|PMID:7695699|PMID:8218237|PMID:9016532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:418 systemic scleroderma ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 621351 Col1a2 collagen type I alpha 2 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730984 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621351 Col1a2 collagen type I alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 621351 Col1a2 collagen type I alpha 2 chain gene DOID:5199 ureteral obstruction IEP D RGD:5688341|PMID:20660018 20130819 RGD mRNA:increased expression:kidney 621351 Col1a2 collagen type I alpha 2 chain gene DOID:5773 oral submucous fibrosis ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 621351 Col1a2 collagen type I alpha 2 chain gene DOID:630 genetic disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10027910|PMID:11288717|PMID:11317364|PMID:15077201|PMID:16199547|PMID:17078022|PMID:18996919|PMID:19344236|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21912751|PMID:24140640|PMID:24668929|PMID:25741868|PMID:25944380|PMID:2824475|PMID:28492532|PMID:28625337|PMID:28916840|PMID:458828|PMID:7695699|PMID:8071956|PMID:8218237|PMID:9016532|PMID:9268111|PMID:9295084|PMID:9557891 621351 Col1a2 collagen type I alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15172002|PMID:17576681|PMID:18028452|PMID:1978725|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26432670|PMID:26467025|PMID:27011056|PMID:27056980|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:31363794|PMID:9399846|PMID:9536098|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:767 muscular atrophy IEP D RGD:7257536|PMID:17916675 20130822 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9000784 Fibrosis ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:730984 D RGD:8554872 20200225 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:7257544|PMID:7512265 20130822 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:730984 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9004283 Transplant Rejection ISO RGD:730984 D RGD:7248773|PMID:20150539 20130819 RGD mRNA:increased expression:kidney 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9004590 Acute Liver Failure IEP D RGD:7257539|PMID:11786959 20130822 RGD 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9004797 Fetal Nutrition Disorders IEP D RGD:155882570|PMID:23977013 20230130 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:1463018|PMID:15172002|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:2052622|PMID:21520333|PMID:22589248|PMID:22753364|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26432670|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:8786074|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9005950 Orthostatic Hypotension ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9007227 Bruck Syndrome 1 ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:7240710 20201223 OMIM 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 PMID:10027910|PMID:10982177|PMID:11288717|PMID:11317364|PMID:16705691|PMID:17078022|PMID:18311573|PMID:18996919|PMID:19344236|PMID:21520333|PMID:21667357|PMID:22589248|PMID:23692737|PMID:25146735|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26371943|PMID:26432670|PMID:26467025|PMID:27510842|PMID:28378289|PMID:28492532|PMID:29150909|PMID:30715774|PMID:30821104|PMID:34422331|PMID:7695699|PMID:8218237|PMID:9016532 621351 Col1a2 collagen type I alpha 2 chain gene DOID:9008086 Developmental Disabilities ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:30311386 621352 Cep19 centrosomal protein 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 621352 Cep19 centrosomal protein 19 gene DOID:12849 autistic disorder ISO RGD:1602846 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621352 Cep19 centrosomal protein 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602846 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 621352 Cep19 centrosomal protein 19 gene DOID:5419 schizophrenia ISO RGD:1602846 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621352 Cep19 centrosomal protein 19 gene DOID:630 genetic disease ISO RGD:1602846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621352 Cep19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:7240710 20150708 OMIM 621352 Cep19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure PMID:24268657|PMID:25741868|PMID:28492532 621353 Cltb clathrin, light chain B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 621353 Cltb clathrin, light chain B gene DOID:0112103 Sotos syndrome 1 ISO RGD:733395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 621353 Cltb clathrin, light chain B gene DOID:630 genetic disease ISO RGD:733395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621353 Cltb clathrin, light chain B gene DOID:9005172 Lung Neoplasms ISO RGD:733395 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:11714 gestational diabetes IEP D RGD:11564338|PMID:26512955 20161116 RGD 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1549974 D RGD:13506949|PMID:29440992 20180226 RGD 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:3525 middle cerebral artery infarction IEP D RGD:2314138|PMID:15902200 20161116 RGD 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:3525 middle cerebral artery infarction IEP D RGD:9068917|PMID:21029239 20161116 RGD 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:4989 pancreatitis IEP D RGD:7483579|PMID:14530762 20131202 RGD mRNA, protein:increased expression:lung 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:630 genetic disease ISO RGD:1350585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11564330|PMID:23637053 20161116 RGD protein:increased expression:spinal cord 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:7483577|PMID:23771482 20131202 RGD 621354 Bnip3l BCL2 interacting protein 3 like gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:10402542|PMID:24072673 20161116 RGD mRNA:increased expression:hippocampus 621355 Nudt4 nudix hydrolase 4 gene DOID:630 genetic disease ISO RGD:1320353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621356 Nudt6 nudix hydrolase 6 gene DOID:630 genetic disease ISO RGD:735257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621356 Nudt6 nudix hydrolase 6 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:735257 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 621356 Nudt6 nudix hydrolase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735257 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621357 E2f5 E2F transcription factor 5 gene DOID:10283 prostate cancer ISO RGD:731057 D RGD:155641232|PMID:33390186 20221103 RGD mRNA,protein:increased expression:prostate: 621357 E2f5 E2F transcription factor 5 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:731057 D RGD:155641232|PMID:33390186 20221103 RGD 621357 E2f5 E2F transcription factor 5 gene DOID:10908 hydrocephalus ISS RGD:731058 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 621357 E2f5 E2F transcription factor 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731057 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 621357 E2f5 E2F transcription factor 5 gene DOID:630 genetic disease ISO RGD:731057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621357 E2f5 E2F transcription factor 5 gene DOID:9000918 Disease Progression ISO RGD:731057 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 621358 Kcnc3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:7240710 20130221 OMIM 621358 Kcnc3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 PMID:10820125|PMID:16135769|PMID:16501573|PMID:18592334|PMID:19953606|PMID:20712895|PMID:21479265|PMID:21543613|PMID:22289912|PMID:22736459|PMID:22933745|PMID:23215817|PMID:23734863|PMID:23912307|PMID:24116147|PMID:25152487|PMID:25497598|PMID:25741868|PMID:25756792|PMID:25981959|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 621358 Kcnc3 potassium voltage-gated channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19953606|PMID:21479265|PMID:21543613|PMID:22289912|PMID:23734863|PMID:25741868|PMID:25756792|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:11382 corneal neovascularization treatment ISO RGD:1345645 D RGD:7777186|PMID:20837529 20140107 RGD 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1345645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404|PMID:17374397 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:3310 atopic dermatitis ISO RGD:1345645 D RGD:7777183|PMID:16650051 20140107 RGD mRNA:altered expression:fibroblast 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1345645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:37 skin disease ISO RGD:1345645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:4251 conjunctival disease ISO RGD:1345645 D RGD:7777184|PMID:22297496 20140107 RGD 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:630 genetic disease ISO RGD:1345645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:9001488 Human Influenza ISO RGD:1345645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:9002488 Peritoneal Fibrosis treatment IMP D RGD:7777188|PMID:22912904 20140107 RGD 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1345645 D RGD:11554173 20170613 CTD CTD Direct Evidence: therapeutic PMID:26313688 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:9005372 Inflammation treatment ISO RGD:1345645 D RGD:7777185|PMID:21837654 20140107 RGD associated with Corneal Diseases 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345645 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621359 Tnfaip6 TNF alpha induced protein 6 gene DOID:9008606 Corneal Opacity treatment ISO RGD:1345645 D RGD:7777186|PMID:20837529 20140107 RGD 621360 Aco2 aconitase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621360 Aco2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:7240710 20140911 OMIM 621360 Aco2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:17576681|PMID:22405087|PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:28545339|PMID:28559085|PMID:29564393|PMID:29577077|PMID:30689204|PMID:31130284|PMID:32214227|PMID:32449285|PMID:32519519|PMID:34056600|PMID:9536098 621360 Aco2 aconitase 2 gene DOID:0080600 COVID-19 ISO RGD:733187 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621360 Aco2 aconitase 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:733187 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 621360 Aco2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:7240710 20151209 OMIM 621360 Aco2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32449285|PMID:32519519|PMID:34056600 621360 Aco2 aconitase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 621360 Aco2 aconitase 2 gene DOID:630 genetic disease ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600|PMID:9536098 621360 Aco2 aconitase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733187 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 621360 Aco2 aconitase 2 gene DOID:8501 fundus dystrophy ISO RGD:733187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:34056600 621360 Aco2 aconitase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733187 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621361 Cntn4 contactin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1349263 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 621361 Cntn4 contactin 4 gene DOID:12849 autistic disorder ISO RGD:1349263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18349135 621361 Cntn4 contactin 4 gene DOID:12849 autistic disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18349135|PMID:18551756|PMID:21681106|PMID:30208311 621361 Cntn4 contactin 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349263 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 621361 Cntn4 contactin 4 gene DOID:630 genetic disease ISO RGD:1349263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621361 Cntn4 contactin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349263 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621361 Cntn4 contactin 4 gene DOID:9006257 Growth Disorders ISO RGD:1349263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 621361 Cntn4 contactin 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1349263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 621361 Cntn4 contactin 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 621362 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0080690 RASopathy ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 621362 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 621362 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605836 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 621362 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:630 genetic disease ISO RGD:1605836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621363 Gpc2 glypican 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731703 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621363 Gpc2 glypican 2 gene DOID:630 genetic disease ISO RGD:731703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347714 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347714 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347714 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1347714 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1347714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621364 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:9007661 Dwarfism ISO RGD:1347714 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 621365 Epcam epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:7240710 20130221 OMIM 621365 Epcam epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy PMID:15849733|PMID:16199547|PMID:18572020|PMID:19098912|PMID:19455606|PMID:19820410|PMID:20034091|PMID:20981223|PMID:21315192|PMID:23264089|PMID:23462293|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24337010|PMID:25637381|PMID:25741868|PMID:28361844|PMID:28492532|PMID:28701297|PMID:36988593 621365 Epcam epithelial cell adhesion molecule gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 621365 Epcam epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:7240710 20130221 OMIM 621365 Epcam epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 PMID:16951683|PMID:19098912|PMID:25741868|PMID:28492532 621365 Epcam epithelial cell adhesion molecule gene DOID:0070271 Lynch syndrome 1 ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19098912 621365 Epcam epithelial cell adhesion molecule gene DOID:0070271 Lynch syndrome 1 ISO RGD:1345999 D RGD:8554872 20190514 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:24033266|PMID:25741868|PMID:28492532 621365 Epcam epithelial cell adhesion molecule gene DOID:10534 stomach cancer ISO RGD:1345999 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:18572020|PMID:20034091|PMID:23462293|PMID:36988593 621365 Epcam epithelial cell adhesion molecule gene DOID:1520 colon carcinoma ISO RGD:1345999 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 621365 Epcam epithelial cell adhesion molecule gene DOID:1793 pancreatic cancer ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 621365 Epcam epithelial cell adhesion molecule gene DOID:2394 ovarian cancer ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 621365 Epcam epithelial cell adhesion molecule gene DOID:305 carcinoma ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621365 Epcam epithelial cell adhesion molecule gene DOID:3525 middle cerebral artery infarction IEP D RGD:11038820|PMID:15950761 20160226 RGD 621365 Epcam epithelial cell adhesion molecule gene DOID:3883 Lynch syndrome ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 621365 Epcam epithelial cell adhesion molecule gene DOID:3883 Lynch syndrome ISO RGD:1345999 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11830542|PMID:11857745|PMID:12373605|PMID:14729822|PMID:14871915|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15942939|PMID:16086322|PMID:16142001|PMID:16143124|PMID:16199547|PMID:16736289|PMID:16941473|PMID:17250661|PMID:17576681|PMID:18307539|PMID:18572020|PMID:19098912|PMID:19177550|PMID:19250818|PMID:19455606|PMID:19526325|PMID:19930554|PMID:20034091|PMID:20587412|PMID:20591884|PMID:20864635|PMID:20981223|PMID:21145788|PMID:21227399|PMID:21309036|PMID:21315192|PMID:21642682|PMID:21791569|PMID:22243433|PMID:22283331|PMID:22658618|PMID:22883484|PMID:23264089|PMID:23454724|PMID:23462293|PMID:23801599|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24244552|PMID:24323032|PMID:24337010|PMID:24362816|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25759555|PMID:25980754|PMID:26530882|PMID:27064304|PMID:27144940|PMID:28361844|PMID:28492532|PMID:28701297|PMID:30374176|PMID:9536098|PMID:9843200 621365 Epcam epithelial cell adhesion molecule gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1345999 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 621365 Epcam epithelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1345999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621365 Epcam epithelial cell adhesion molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345999 D RGD:14695007|PMID:24616575 20190627 RGD protein:increased expression:liver 621365 Epcam epithelial cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621365 Epcam epithelial cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis IMP D RGD:9685143|PMID:23390083 20141217 RGD 621365 Epcam epithelial cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621365 Epcam epithelial cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621365 Epcam epithelial cell adhesion molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20870202 621365 Epcam epithelial cell adhesion molecule gene DOID:9002928 Colonic Neoplasms ISO RGD:1345999 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Colonic neoplasm 621365 Epcam epithelial cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 621365 Epcam epithelial cell adhesion molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 621366 Mug1 murinoglobulin 1 gene DOID:3021 acute kidney failure ISO RGD:1557027 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 621366 Mug1 murinoglobulin 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1557027 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 621367 Gab2 GRB2-associated binding protein 2 gene DOID:1059 intellectual disability ISO RGD:737428 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621367 Gab2 GRB2-associated binding protein 2 gene DOID:1909 melanoma ISO RGD:737428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 621367 Gab2 GRB2-associated binding protein 2 gene DOID:630 genetic disease ISO RGD:737428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621367 Gab2 GRB2-associated binding protein 2 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:737428 D RGD:13699433|PMID:22858987 20180713 RGD protein:increased expression:bone marrow 621367 Gab2 GRB2-associated binding protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 621367 Gab2 GRB2-associated binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:0050700 cardiomyopathy treatment IEP D RGD:13792652|PMID:17229387 20180919 RGD mRNA:increased expression:heart (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1344847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1557957 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:0080600 COVID-19 ISO RGD:1344847 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:11612 polycystic ovary syndrome IEP D RGD:13703107|PMID:28397049 20180801 RGD mRNA, protein:decreased expression:pancreas (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:224 transient cerebral ischemia IEP D RGD:13792582|PMID:21950801 20180913 RGD protein:increased expression:cerebrum (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1344847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1557957 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:630 genetic disease ISO RGD:1344847 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:7240710 20221123 OMIM 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 PMID:36239646 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:13792578|PMID:22591908 20180913 RGD mRNA:decreased expression:renal glomerulus (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9002231 Fetal Growth Retardation IEP D RGD:13782135|PMID:26342040 20180822 RGD protein:decreased expression:liver (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9002669 Hypoxia ISO RGD:1344847 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13703107|PMID:28397049 20180801 RGD associated with polycystic ovary syndrome;mRNA, protein:decreased expression:pancreas (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9007591 Hypermetabolism due to Defect in Mitochondria ISO RGD:1344847 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to Defect in Mitochondrial Coupling PMID:36239646 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9008691 Liver Injury IEP D RGD:13800895|PMID:25772430 20181019 RGD protein:increased expression:liver (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9352 type 2 diabetes mellitus IEP D RGD:13792619|PMID:21117707 20180919 RGD protein:decreased expression:islet of Langerhans (rat) 621368 Atp5f1b ATP synthase F1 subunit beta gene DOID:9970 obesity treatment IDA D RGD:13782133|PMID:26880535 20180822 RGD 621369 Uox urate oxidase gene DOID:1920 hyperuricemia IMP D RGD:150521544|PMID:32368418 20211109 RGD 621370 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:630 genetic disease ISO RGD:1351431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621370 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621370 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351431 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15882971 621370 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:632804|PMID:7560067 20100426 RGD mRNA:increased expression:heart 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:0060180 colitis treatment IEP D RGD:13792680|PMID:23840258 20180919 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1353040 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex PMID:29478781 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:10652 Alzheimer's disease ISO RGD:1353040 D RGD:13792588|PMID:28474567 20190827 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:11054 urinary bladder cancer ISO RGD:1353040 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:5339 cyclic hematopoiesis ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction IEP D RGD:13792656|PMID:29300489 20180919 RGD protein:decreased expression:myocardium (rat) 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction treatment IEP D RGD:13792681|PMID:23809007 20180919 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:630 genetic disease ISO RGD:1353040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:700 mitochondrial metabolism disease ISO RGD:1353040 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29478781 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9000815 Aortic Calcification treatment IEP D RGD:11057945|PMID:26047104 20180919 RGD associated with Hypercholesterolemia 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9003936 Cardiomegaly treatment IEP D RGD:13792672|PMID:25880160 20180919 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9004616 Left Ventricular Hypertrophy treatment IEP D RGD:13792675|PMID:25738576 20180919 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9005595 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5 ISO RGD:1353040 D RGD:7240710 20190315 OMIM 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9005595 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5 ISO RGD:1353040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 PMID:25741868|PMID:28492532|PMID:29478781 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:13792678|PMID:24232000 20180919 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:13792676|PMID:25305180 20180919 RGD protein:decreased expression:myocardium (rat) 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13792666|PMID:26109848 20180919 RGD 621372 Atp5f1d ATP synthase F1 subunit delta gene DOID:9970 obesity treatment IDA D RGD:13792665|PMID:27874268 20180919 RGD 621373 Tex101 testis expressed 101 gene DOID:5419 schizophrenia ISO RGD:1354475 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621373 Tex101 testis expressed 101 gene DOID:630 genetic disease ISO RGD:1354475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621374 Atp5f1e ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:7240710 20140911 OMIM 621374 Atp5f1e ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 PMID:20566710 621374 Atp5f1e ATP synthase F1 subunit epsilon gene DOID:9000392 Fluoride Poisoning IEP D RGD:5131501|PMID:21251948 20181207 RGD mRNA:decreased expression:heart, mitochondrion (rat) 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:733969 D RGD:7495770|PMID:22018461 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0060180 colitis treatment IEP D RGD:2298659|PMID:17543437 20131120 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0090039 torsion dystonia 6 ISO RGD:733968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:7240710 20140911 OMIM 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:7240710 20190315 OMIM 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15a PMID:24033266|PMID:25741868|PMID:28492532|PMID:30337470 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10283 prostate cancer ISO RGD:733968 D RGD:13504773|PMID:26435478 20180123 RGD protein:increased serine phosphorylation:prostate gland 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10487 Hirschsprung's disease ISO RGD:733968 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10603 glucose intolerance ISO RGD:733968 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:31095431 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10045941|PMID:24380241 20150624 RGD protein:increased expression:hippocampus: 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension ISO RGD:733968 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension treatment IEP D RGD:7495780|PMID:19246475 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:1612 breast cancer susceptibility ISO RGD:733968 D RGD:6484541|PMID:22562547 20131211 RGD DNA:SNPs: :multiple 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:178 vascular disease ISO RGD:733968 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:219 colon cancer IEP D RGD:7495781|PMID:20143392 20131212 RGD associated with Obesity;protein:increased expression:large intestine mucosa 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:224 transient cerebral ischemia treatment IEP D RGD:7495766|PMID:24261295 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:733968 D RGD:13504772|PMID:27196761 20180123 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733968 D RGD:7495759|PMID:20200541 20131211 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733969 D RGD:7495756|PMID:12075355 20131211 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3498 pancreatic ductal adenocarcinoma susceptibility ISO RGD:733969 D RGD:13838741|PMID:22264792 20190114 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:733969 D RGD:10045955|PMID:16286924 20150625 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3571 liver cancer ISO RGD:733968 D RGD:153305911|PMID:27367027 20220809 RGD human cells in mouse model 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:4989 pancreatitis treatment ISO RGD:733969 D RGD:10045954|PMID:17525799 20150625 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia ISO RGD:733968 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31095431 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia treatment IMP D RGD:7495767|PMID:20080200 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:627 severe combined immunodeficiency ISO RGD:733968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:630 genetic disease ISO RGD:733968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:767 muscular atrophy treatment IMP D RGD:7495773|PMID:18827022 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:8893 psoriasis ISO RGD:733969 D RGD:7495754|PMID:16397523 20131211 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:733969 D RGD:10045942|PMID:24489934 20150624 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002221 Hyperplasia IMP D RGD:7495757|PMID:15939736 20131211 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis IMP D RGD:7495778|PMID:19652024 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733969 D RGD:7495772|PMID:21087862 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:733968 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:733969 D RGD:13838742|PMID:22056382 20190114 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia severity ISO RGD:733969 D RGD:13838740|PMID:22406536 20190114 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004118 Experimental Melanoma ISO RGD:733968 D RGD:7495758|PMID:19276165 20131211 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection IEP D RGD:7495769|PMID:19249479 20131212 RGD mRNA:increased expression:kidney 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection treatment IMP D RGD:4892204|PMID:20500684 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005372 Inflammation ISO RGD:733968 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:7495777|PMID:20362663 20131212 RGD protein:increased phosphorylation:liver 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9006223 Kidney Reperfusion Injury treatment IMP D RGD:7495779|PMID:19546526 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733968 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance treatment IEP D RGD:7495768|PMID:19073766 20131212 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733968 D RGD:10045952|PMID:15685173 20150625 RGD 621375 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9970 obesity ISO RGD:733969 D RGD:10045952|PMID:15685173 20150625 RGD protein:increased expression:liver: 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:10652 Alzheimer's disease ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:10825 essential hypertension ISO RGD:735304 D RGD:13800915|PMID:14654753 20181022 RGD protein:increased expression:plasma (human) 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:114 heart disease ISO RGD:735304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:630 genetic disease ISO RGD:735304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension IEP D RGD:13800892|PMID:27916219 20181019 RGD mRNA, protein:increased expression:lung, plasma (rat) 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension treatment IMP D RGD:13800894|PMID:27491388 20181019 RGD 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735304 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:11085539|PMID:25900768 20181019 RGD associated with hypertension;protein:increased expression:heart left ventricle (rat) 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:13800891|PMID:28731155 20181019 RGD 621376 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9008691 Liver Injury IEP D RGD:13800895|PMID:25772430 20181019 RGD protein:increased expression:liver (rat) 621377 Atp5me ATP synthase membrane subunit e gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1350783 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 621377 Atp5me ATP synthase membrane subunit e gene DOID:114 heart disease ISO RGD:733939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 621377 Atp5me ATP synthase membrane subunit e gene DOID:1856 cherubism ISO RGD:1350783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 621377 Atp5me ATP synthase membrane subunit e gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1350783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0060898 Parkinson's disease 20 ISO RGD:1348097 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease ISO RGD:1348097 D RGD:14696823|PMID:30266287 20190730 RGD 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease treatment ISO RGD:734072 D RGD:14696823|PMID:30266287 20190730 RGD 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism IEP D RGD:13838730|PMID:9733093 20190111 RGD protein:decreased expression:liver, mitochondrion (rat) 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism treatment IEP D RGD:13830874|PMID:19878644 20181207 RGD 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:1826 epilepsy ISO RGD:1348097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:3652 Leigh disease ISO RGD:1348097 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348097 D RGD:14696810|PMID:28672194 20190730 RGD 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:5844 myocardial infarction treatment ISO RGD:734072 D RGD:13801194|PMID:24692845 20181207 RGD 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:630 genetic disease ISO RGD:1348097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9000392 Fluoride Poisoning IEP D RGD:5131501|PMID:21251948 20181207 RGD mRNA:decreased expression:heart, mitochondrion (rat) 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348097 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9002101 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 7 ISO RGD:1348097 D RGD:7240710 20230505 OMIM 621379 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9005698 ZTTK Syndrome ISO RGD:1348097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 621380 Prim1 DNA primase subunit 1 gene DOID:0050569 Seckel syndrome ISO RGD:1348091 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephalic primordial dwarfism PMID:33060134 621380 Prim1 DNA primase subunit 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1348091 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 621380 Prim1 DNA primase subunit 1 gene DOID:630 genetic disease ISO RGD:1348091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621380 Prim1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:7240710 20221221 OMIM 621380 Prim1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome PMID:33060134 621381 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621381 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:7240710 20140911 OMIM 621381 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile PMID:22226083|PMID:24549054|PMID:25741868|PMID:28492532 621381 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733156 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:28492532 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353726 D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0060321 umbilical hernia ISO RGD:1353726 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0060327 omphalocele ISO RGD:1353726 D RGD:8554872 20171031 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1353726 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15666309 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:7240710 20130221 OMIM 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome PMID:10329027|PMID:10502784|PMID:10686424|PMID:10874315|PMID:11001813|PMID:1345174|PMID:14565595|PMID:15666309|PMID:15979919|PMID:16199547|PMID:16758144|PMID:17576681|PMID:19320026|PMID:21699693|PMID:22001912|PMID:222849|PMID:25277362|PMID:25326635|PMID:25637337|PMID:25640679|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:3110540|PMID:32174067|PMID:32381727|PMID:32746767|PMID:34265140|PMID:35252061|PMID:3931636|PMID:416188|PMID:4373475|PMID:5016372|PMID:6089551|PMID:7977351|PMID:8163671|PMID:8449506|PMID:8533783|PMID:8574422|PMID:8981946|PMID:9152832|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9617436|PMID:9893157 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:10908 hydrocephalus ISO RGD:1353726 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:11383 cryptorchidism ISO RGD:1353726 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:25741868 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16758144|PMID:17576681|PMID:21699693|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28492532|PMID:32746767|PMID:9220536|PMID:9536098|PMID:9893157 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:13359 Ehlers-Danlos syndrome ISS RGD:733675 D RGD:13592920 20180518 MouseDO OMIM:225400 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:34265140|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:32381727|PMID:34265140|PMID:35252061|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:1459 hypothyroidism IEP D RGD:2314536|PMID:15817667 20091119 RGD mRNA:decreased expression:multiple organs 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353726 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:423 myopathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:9003358 Kyphosis ISO RGD:1353726 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15666309 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:9005077 Joint Instability ISO RGD:1353726 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353726 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 621382 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1353726 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060224 atrial fibrillation ISO RGD:731917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15368194 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060224 atrial fibrillation ISO RGD:731917 D RGD:1580501|PMID:15368194 19990101 RGD 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060224 atrial fibrillation ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15368194|PMID:16487223|PMID:18006559|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:731917 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:731917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15368194|PMID:16487223|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:7240710 20130425 OMIM 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to PMID:10219239|PMID:10220144|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:11468227|PMID:12185453|PMID:12402336|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16000071|PMID:16414944|PMID:16487223|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20817017|PMID:20981092|PMID:21626672|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23890619|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26284702|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27884173|PMID:27920829|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29544605|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31690835|PMID:31737537|PMID:32078429|PMID:32268277|PMID:33626434 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10220144|PMID:15368194|PMID:15840476|PMID:18006462|PMID:20817017|PMID:22166675|PMID:22581653|PMID:22677073|PMID:23631430|PMID:24033266|PMID:24403551|PMID:24796621|PMID:25741868|PMID:26123744|PMID:26633542|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29805884|PMID:32268277 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:731917 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:1588 thrombocytopenia ISO RGD:731917 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10219239|PMID:10984545|PMID:14510655 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:1580502|PMID:15840476 19990101 RGD 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:15840476|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24403551|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26633542|PMID:27435932|PMID:27650965|PMID:27920829|PMID:28166811|PMID:28492532|PMID:28600387|PMID:28794082|PMID:30986657|PMID:31535183 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31447099|PMID:31535183|PMID:31589614|PMID:32268277 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31737537|PMID:32268277|PMID:33626434 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:3393 coronary artery disease ISO RGD:731917 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000064 Cardiac Arrhythmias IEP D RGD:7242918|PMID:20381460 20130521 RGD associated with Myocardial Infarction 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:14760488|PMID:16922724|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24055113|PMID:24144883|PMID:24569893|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26284702|PMID:26859003|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29661707|PMID:31235733|PMID:31447099|PMID:31737537|PMID:33626434 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731917 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10219239 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731917 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:16922724|PMID:22581653 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:731917 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:18478040|PMID:18487507|PMID:19357396|PMID:19679353|PMID:21626672|PMID:28492532 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:7240710 20130221 OMIM 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:16000071|PMID:16487223|PMID:16922724|PMID:17210839|PMID:17275752|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20981092|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:24055113|PMID:24144883|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26284702|PMID:27435932|PMID:27465075|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29544605|PMID:30847666|PMID:30986657|PMID:31535183 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7243942|PMID:19267230 20130521 RGD mRNA:decreased expression:left heart ventricle 621383 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:731917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1347000 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:7240710 20130425 OMIM 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16313760|PMID:16449802|PMID:17395131|PMID:18209471|PMID:19122847|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28855170|PMID:29247119|PMID:30847666 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1347000 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:1347000 D RGD:1600040|PMID:11207363 20070226 RGD 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1347000 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1347000 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000727 Syncope ISO RGD:1347000 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 621384 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 621385 Arr3 arrestin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350252 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621385 Arr3 arrestin 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 621385 Arr3 arrestin 3 gene DOID:12849 autistic disorder ISO RGD:1350252 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621385 Arr3 arrestin 3 gene DOID:1826 epilepsy ISO RGD:1350252 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 621385 Arr3 arrestin 3 gene DOID:630 genetic disease ISO RGD:1350252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621385 Arr3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:7240710 20190315 OMIM 621385 Arr3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited PMID:27829781|PMID:33482870 621388 Ptcra pre T-cell antigen receptor alpha gene DOID:0050444 infantile Refsum disease ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 621388 Ptcra pre T-cell antigen receptor alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1342695 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 621388 Ptcra pre T-cell antigen receptor alpha gene DOID:630 genetic disease ISO RGD:1342695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621388 Ptcra pre T-cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:28492532 621388 Ptcra pre T-cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 621389 Slco1a4 solute carrier organic anion transporter family, member 1a4 gene DOID:12308 Dubin-Johnson syndrome IEP D RGD:1598620|PMID:14731123 20061208 RGD 621389 Slco1a4 solute carrier organic anion transporter family, member 1a4 gene DOID:13580 cholestasis ISO RGD:735963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 621389 Slco1a4 solute carrier organic anion transporter family, member 1a4 gene DOID:13580 cholestasis treatment IEP D RGD:15090804|PMID:27090119 20200103 RGD mRNA:altered expression:liver (rat) 621389 Slco1a4 solute carrier organic anion transporter family, member 1a4 gene DOID:3571 liver cancer ISO RGD:735963 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (mouse) PMID:25319454|REF_RGD_ID:152995431 621389 Slco1a4 solute carrier organic anion transporter family, member 1a4 gene DOID:630 genetic disease ISO RGD:1607085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621389 Slco1a4 solute carrier organic anion transporter family, member 1a4 gene DOID:9452 fatty liver disease IEP D RGD:1598602|PMID:16139386 20061206 RGD 621390 Srp54a signal recognition particle 54A gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1350478 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 621390 Srp54a signal recognition particle 54A gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1350478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977 621390 Srp54a signal recognition particle 54A gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1350478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 621390 Srp54a signal recognition particle 54A gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:7240710 20200226 OMIM 621390 Srp54a signal recognition particle 54A gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant PMID:28492532|PMID:28972538|PMID:29914977 621390 Srp54a signal recognition particle 54A gene DOID:630 genetic disease ISO RGD:1350478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977|PMID:34549814 621390 Srp54a signal recognition particle 54A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621391 Slco2b1 solute carrier organic anion transporter family, member 2b1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 621391 Slco2b1 solute carrier organic anion transporter family, member 2b1 gene DOID:1059 intellectual disability ISO RGD:736486 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 621391 Slco2b1 solute carrier organic anion transporter family, member 2b1 gene DOID:1793 pancreatic cancer ISO RGD:736486 D RGD:152995425|PMID:21625523 20220621 RGD mRNA:decreased expression:pancreas (human) 621391 Slco2b1 solute carrier organic anion transporter family, member 2b1 gene DOID:3571 liver cancer disease_progression ISO RGD:736486 D RGD:152995425|PMID:21625523 20220621 RGD mRNA:decreased expression:liver (human) 621391 Slco2b1 solute carrier organic anion transporter family, member 2b1 gene DOID:630 genetic disease ISO RGD:736486 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621392 Ccn2 cellular communication network factor 2 gene DOID:0080001 bone disease IEP D RGD:632527|PMID:10679821 20091120 RGD mRNA:increased expression:long bone (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24154679 621392 Ccn2 cellular communication network factor 2 gene DOID:10763 hypertension ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 621392 Ccn2 cellular communication network factor 2 gene DOID:11714 gestational diabetes ISO RGD:731013 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34175429 621392 Ccn2 cellular communication network factor 2 gene DOID:12236 primary biliary cholangitis IEP D RGD:2314517|PMID:19371232 20091118 RGD mRNA:increased expression:liver (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis IDA D RGD:2314357|PMID:19902320 20091112 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis IEP D RGD:2314529|PMID:19293040 20091119 RGD protein:increased expression:myocardium, cardiomyocyte (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 621392 Ccn2 cellular communication network factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:731013 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 621392 Ccn2 cellular communication network factor 2 gene DOID:14330 Parkinson's disease IEP D RGD:2314505|PMID:19463894 20091118 RGD protein:increased expression:substantia nigra (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:2394 ovarian cancer ISO RGD:731013 D RGD:2314512|PMID:19382180 20091118 RGD mRNA:decreased expression:ovarian carcinoma (human) 621392 Ccn2 cellular communication network factor 2 gene DOID:2773 contact dermatitis ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 621392 Ccn2 cellular communication network factor 2 gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:1601118|PMID:15172885 20091123 RGD protein:increased expression:kidney, glomerulus (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:299 adenocarcinoma ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 621392 Ccn2 cellular communication network factor 2 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:2314483|PMID:19659652 20091120 RGD mRNA, protein:increased expression:lung (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731013 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:15298857|PMID:15677772|PMID:25815693|PMID:26817844 621392 Ccn2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:2314537|PMID:19154443 20091119 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 621392 Ccn2 cellular communication network factor 2 gene DOID:397 restrictive cardiomyopathy IEP D RGD:2314513|PMID:19381071 20091118 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:4001 ovarian carcinoma ISO RGD:731013 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 621392 Ccn2 cellular communication network factor 2 gene DOID:418 systemic scleroderma ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 621392 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16652398|PMID:17657819|PMID:26396155 621392 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates IMP D RGD:243048439|PMID:36469291 20230331 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:731014 D RGD:243048439|PMID:36469291 20230331 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:731014 D RGD:40925947|PMID:26946098 20210126 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:5199 ureteral obstruction IEP D RGD:2314607|PMID:18987110 20091120 RGD mRNA:increased expression:kidney (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency IEP D RGD:2314539|PMID:19112094 20091119 RGD mRNA:increased expression:left ventricle (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 621392 Ccn2 cellular communication network factor 2 gene DOID:5844 myocardial infarction IEP D RGD:2314623|PMID:18167060 20091120 RGD mRNA:increased expression:left ventricle (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:5844 myocardial infarction treatment IEP D RGD:35673318|PMID:29849775 20200713 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:6000 congestive heart failure ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17229371 621392 Ccn2 cellular communication network factor 2 gene DOID:630 genetic disease ISO RGD:731013 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621392 Ccn2 cellular communication network factor 2 gene DOID:6432 pulmonary hypertension IEP D RGD:2314535|PMID:19234054 20091119 RGD protein:increased expression:pulmonary artery (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 621392 Ccn2 cellular communication network factor 2 gene DOID:850 lung disease ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 621392 Ccn2 cellular communication network factor 2 gene DOID:8947 diabetic retinopathy IEP D RGD:2314507|PMID:19450451 20091118 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9000784 Fibrosis IMP D RGD:2314612|PMID:18790236 20091120 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:2314603|PMID:19080126 20091120 RGD protein:increased expression:kidney (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9000972 Fever IEP D RGD:2314489|PMID:19582783 20091118 RGD mRNA:increased expression:meninges (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258935 621392 Ccn2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2314367|PMID:19856102 20091120 RGD mRNA:increased expression:liver (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621392 Ccn2 cellular communication network factor 2 gene DOID:9002055 Chronic Allograft Nephropathy disease_progression IEP D RGD:150517553|PMID:19921985 20091230 RGD mRNA, protein:increased expression:kidney (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2314366|PMID:19895808 20091120 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2314604|PMID:19065061 20091120 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9003291 Aggressive Fibromatosis ISO RGD:731013 D RGD:2314525|PMID:19366727 20091119 RGD mRNA:increased expression:tumor (human) 621392 Ccn2 cellular communication network factor 2 gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:2314476|PMID:19707545 20091117 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 621392 Ccn2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314021|PMID:19820199 20091112 RGD mRNA, protein:increased expression:heart, myocardium (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2314487|PMID:19625611 20230301 RGD mRNA:increased expression:heart left ventricle (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9005749 Necrosis IEP D RGD:2314511|PMID:19395590 20091118 RGD mRNA:increased expression:brain (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:2314490|PMID:19570811 20091118 RGD protein:increased expression:arterial wall (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9006709 Primary Graft Dysfunction exacerbates IEP D RGD:150517553|PMID:19921985 20211120 RGD protein:increased expression:urine (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:731013 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 621392 Ccn2 cellular communication network factor 2 gene DOID:9007456 Female Infertility ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21868453 621392 Ccn2 cellular communication network factor 2 gene DOID:9007661 Dwarfism ISO RGD:731014 D RGD:734846|PMID:11237711 19990101 RGD 621392 Ccn2 cellular communication network factor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731013 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17657819 621392 Ccn2 cellular communication network factor 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2314357|PMID:19902320 20091112 RGD mRNA, protein:increased expression:left ventricle (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:9477 pulmonary embolism IEP D RGD:2314488|PMID:19602618 20091117 RGD mRNA:increased expression:right ventricle (rat) 621392 Ccn2 cellular communication network factor 2 gene DOID:971 tendinitis IEP D RGD:2314473|PMID:19743505 20091117 RGD protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat) 621393 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 621393 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:10652 Alzheimer's disease ISO RGD:1553358 D RGD:10401913|PMID:23211594 20190808 RGD 621393 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 621394 Atp6v0c ATPase H+ transporting V0 subunit C gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 621394 Atp6v0c ATPase H+ transporting V0 subunit C gene DOID:1826 epilepsy ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 621394 Atp6v0c ATPase H+ transporting V0 subunit C gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731892 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 621394 Atp6v0c ATPase H+ transporting V0 subunit C gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:731892 D RGD:14696825|PMID:30884810 20190806 RGD DNA:hypermethylation:promoter 621394 Atp6v0c ATPase H+ transporting V0 subunit C gene DOID:630 genetic disease ISO RGD:731892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621395 Myo9a myosin IXA gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:33412162 621395 Myo9a myosin IXA gene DOID:1312 focal segmental glomerulosclerosis ISS RGD:1551281 D RGD:13592920 20210422 MouseDO 621395 Myo9a myosin IXA gene DOID:14159 obstructive hydrocephalus ISS RGD:1551281 D RGD:13592920 20180518 MouseDO 621395 Myo9a myosin IXA gene DOID:2717 Bloom syndrome ISO RGD:732261 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621395 Myo9a myosin IXA gene DOID:3320 Tay-Sachs disease ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 621395 Myo9a myosin IXA gene DOID:3635 congenital myasthenic syndrome ISO RGD:732261 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868 621395 Myo9a myosin IXA gene DOID:630 genetic disease ISO RGD:732261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621395 Myo9a myosin IXA gene DOID:9006836 Contracture ISO RGD:732261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:26752647 621395 Myo9a myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:7240710 20190315 OMIM 621395 Myo9a myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic PMID:25741868|PMID:26752647|PMID:27259756|PMID:28492532|PMID:30237576|PMID:33412162 621395 Myo9a myosin IXA gene DOID:9256 colorectal cancer ISO RGD:732261 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621395 Myo9a myosin IXA gene DOID:9563 bronchiectasis ISO RGD:732261 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Bronchiectasis 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0050572 cone-rod dystrophy ISO RGD:732416 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:18632300|PMID:25741868|PMID:28492532|PMID:30576320|PMID:31273949|PMID:31630094|PMID:9326941|PMID:9501220|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:7240710 20130425 OMIM 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11295838|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14962443|PMID:14971589|PMID:15024725|PMID:15512997|PMID:15557452|PMID:15837919|PMID:16096063|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18484312|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20043869|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21654732|PMID:21911650|PMID:22164218|PMID:22334370|PMID:22509104|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23878505|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25356976|PMID:25383945|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26147992|PMID:26306921|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26667666|PMID:26906952|PMID:27102010|PMID:27208204|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28393863|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28838317|PMID:28945494|PMID:29033008|PMID:29068479|PMID:29178642|PMID:29186038|PMID:29332120|PMID:29641573|PMID:29659842|PMID:29681726|PMID:29785639|PMID:29947567|PMID:30025081|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31054281|PMID:31174678|PMID:31273949|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31878136|PMID:31957135|PMID:31960602|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32367544|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33308271|PMID:33472769|PMID:33494148|PMID:33576794|PMID:33952291|PMID:34492281|PMID:35129589|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732417 D RGD:737730|PMID:14517541 19990101 RGD 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732417 D RGD:9495917|PMID:24644049 20140917 RGD DNA:nonsense mutation:cds:p.R44X (mouse) 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732417 D RGD:9495932|PMID:17933883 20140917 RGD DNA:missense mutation:cds:p.R91W (mouse) 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 treatment ISO RGD:732416 D RGD:9495919|PMID:16505056 20140917 RGD human gene in mouse model 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:7240710 20141015 OMIM 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 20 PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17576681|PMID:17724218|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:20079931|PMID:20683928|PMID:21153841|PMID:21211845|PMID:21654732|PMID:24066033|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25741868|PMID:25752820|PMID:26355662|PMID:26605849|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29332120|PMID:29659842|PMID:29681726|PMID:29947567|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30718709|PMID:31273949|PMID:31379919|PMID:31630094|PMID:31878136|PMID:31957135|PMID:32037395|PMID:32367544|PMID:35129589|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0111004 Joubert syndrome 9 ISO RGD:732416 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:10766140|PMID:16123440|PMID:19431183|PMID:24265693|PMID:25741868|PMID:28492532 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868|PMID:28492532 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:7240710 20200101 OMIM 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9501220|PMID:16272259|PMID:16968212 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:8547535|PMID:23701314 20140217 RGD 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10090910|PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14971589|PMID:15024725|PMID:15557452|PMID:16123440|PMID:16150724|PMID:16754667|PMID:17197551|PMID:17964524|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19920137|PMID:20079931|PMID:20683928|PMID:20811047|PMID:21153841|PMID:21602930|PMID:23105016|PMID:23591405|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26047050|PMID:26306921|PMID:26355662|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30268864|PMID:30576320|PMID:30718709|PMID:30870047|PMID:31273949|PMID:31630094|PMID:31725702|PMID:32581362|PMID:33576794|PMID:9326941|PMID:9501220|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:9585650|PMID:21654732 20140918 RGD DNA:missense mutation:cds:p.D477G (human) 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:732417 D RGD:9585645|PMID:20164818 20140918 RGD 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:1059 intellectual disability ISO RGD:732416 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:12849 autistic disorder ISO RGD:732416 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autism PMID:32581362 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:1432 blindness ISO RGD:732416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16150724|PMID:16226919 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:14791 Leber congenital amaurosis ISO RGD:732416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9326927|PMID:9501220|PMID:19339306 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:14791 Leber congenital amaurosis ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21911650|PMID:22334370|PMID:23591405|PMID:23661369|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25356976|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28714225|PMID:29033008|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30025081|PMID:30268864|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31273949|PMID:31456290|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32581362|PMID:32865313|PMID:33308271|PMID:33472769|PMID:33494148|PMID:34492281|PMID:35129589|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:1749 squamous cell carcinoma ISO RGD:732416 D RGD:9495923|PMID:16181461 20140917 RGD mRNA:decreased expression:skin (human) 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:2513 basal cell carcinoma ISO RGD:732416 D RGD:9495923|PMID:16181461 20140917 RGD mRNA:increased expression:skin (human) 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:630 genetic disease ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:732416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16828753|PMID:17011878 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:8466 retinal degeneration ISO RGD:732416 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:24849605|PMID:32971638 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:8466 retinal degeneration ISO RGD:732416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:16199547|PMID:18632300|PMID:25741868|PMID:28492532|PMID:32367544|PMID:9326941|PMID:9501220|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:8501 fundus dystrophy ISO RGD:732416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9326941 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:8501 fundus dystrophy ISO RGD:732416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:15024725|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19854499|PMID:19959640|PMID:20043869|PMID:20604683|PMID:20683928|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21654732|PMID:21911650|PMID:24849605|PMID:24997176|PMID:25257057|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26427455|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:29332120|PMID:29659842|PMID:29785639|PMID:29947567|PMID:30268864|PMID:30628748|PMID:30718709|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32581362|PMID:33494148|PMID:35129589|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732416 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16968212 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9585653|PMID:21862641 20140918 RGD mRNA:decreased expression:retina (rat) 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:732416 D RGD:9585652|PMID:16109648 20140918 RGD human peptides in a rat model 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9008296 Eye Abnormalities ISO RGD:732416 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10766140|PMID:10937591|PMID:11095629|PMID:16754667|PMID:18682808|PMID:19117922|PMID:19431183|PMID:21153841|PMID:25741868|PMID:25752820|PMID:26626312|PMID:27874104|PMID:28492532|PMID:30718709|PMID:9501220 621396 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9649 congenital nystagmus ISO RGD:732416 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:32971638 621397 Ghsr growth hormone secretagogue receptor gene DOID:0050848 obstructive sleep apnea IEP D RGD:11573409|PMID:26943473 20170530 RGD protein:decreased expression:growth plate: 621397 Ghsr growth hormone secretagogue receptor gene DOID:0060870 isolated growth hormone deficiency IEP D RGD:12904721|PMID:9822798 20170519 RGD mRNA:increased expression:pituitary: 621397 Ghsr growth hormone secretagogue receptor gene DOID:1062 Fanconi syndrome ISO RGD:730941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 621397 Ghsr growth hormone secretagogue receptor gene DOID:10763 hypertension ISO RGD:737310 D RGD:12910115|PMID:24760503 20170609 RGD associated with Obesity 621397 Ghsr growth hormone secretagogue receptor gene DOID:1574 alcohol use disorder ISO RGD:730941 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23977009 621397 Ghsr growth hormone secretagogue receptor gene DOID:1824 status epilepticus IEP D RGD:12907502|PMID:23129314 20170606 RGD mRNA:decreased expression:hippocampus: 621397 Ghsr growth hormone secretagogue receptor gene DOID:224 transient cerebral ischemia IEP D RGD:12907500|PMID:17560544 20170606 RGD mRNA,protein:decreased expression:brain: 621397 Ghsr growth hormone secretagogue receptor gene DOID:3125 multiple endocrine neoplasia IEP D RGD:12904888|PMID:26512025 20170524 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:3525 middle cerebral artery infarction IMP D RGD:9850083|PMID:19352052 20150326 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:630 genetic disease ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532 621397 Ghsr growth hormone secretagogue receptor gene DOID:9000039 Spinal Cord Injuries IMP D RGD:12907564|PMID:25261791 20170607 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:9002231 Fetal Growth Retardation disease_progression IEP D RGD:12904883|PMID:20637157 20170524 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment IMP D RGD:12904963|PMID:21642627 20170530 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:9003139 Cardiac Fibrosis IEP D RGD:12907503|PMID:16626506 20170606 RGD mRNA,protein:increased expression,increased activity:myocardia: 621397 Ghsr growth hormone secretagogue receptor gene DOID:9004351 Digestive System Neoplasms ISO RGD:730941 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18064392 621397 Ghsr growth hormone secretagogue receptor gene DOID:9004484 Sepsis disease_progression IEP D RGD:12905047|PMID:15155262 20170605 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:12905048|PMID:23965296 20170605 RGD mRNA:increased expression:Arcuate nucleus : 621397 Ghsr growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:7240710 20200122 OMIM 621397 Ghsr growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:21646290|PMID:24651458|PMID:25557026|PMID:25741868|PMID:26094658|PMID:28492532|PMID:31726455 621397 Ghsr growth hormone secretagogue receptor gene DOID:9007102 Myocardial Ischemia IEP D RGD:12907503|PMID:16626506 20170606 RGD mRNA,protein:increased expression,increased activity:myocardia: 621397 Ghsr growth hormone secretagogue receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:730941 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Short stature, idiopathic, autosomal 621397 Ghsr growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:12904884|PMID:21084395 20170524 RGD DNA:mutations: : 621397 Ghsr growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:12910126|PMID:7968381 20170613 RGD 621397 Ghsr growth hormone secretagogue receptor gene DOID:9970 obesity ISO RGD:730941 D RGD:1625270|PMID:16511600 20070531 RGD DNA:point mutation:exon:F279L 621398 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621398 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:735371 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 621398 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 621398 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621398 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:630 genetic disease ISO RGD:735371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621399 Skil SKI-like proto-oncogene gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 621399 Skil SKI-like proto-oncogene gene DOID:10283 prostate cancer ISO RGD:1314830 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621399 Skil SKI-like proto-oncogene gene DOID:1062 Fanconi syndrome ISO RGD:1314830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 621399 Skil SKI-like proto-oncogene gene DOID:37 skin disease ISO RGD:1314830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621399 Skil SKI-like proto-oncogene gene DOID:3770 pulmonary fibrosis ISO RGD:1314830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23590892 621399 Skil SKI-like proto-oncogene gene DOID:5199 ureteral obstruction IEP D RGD:2308888|PMID:19382458 20090617 RGD protein:decreased expression:kidney 621399 Skil SKI-like proto-oncogene gene DOID:630 genetic disease ISO RGD:1314830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621399 Skil SKI-like proto-oncogene gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2308901|PMID:19189315 20090617 RGD 621399 Skil SKI-like proto-oncogene gene DOID:9004018 Paraquat Lung ISO RGD:1314830 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23590892 621399 Skil SKI-like proto-oncogene gene DOID:9007964 Arsenic Poisoning ISO RGD:1314830 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:0050868 hepatocellular adenoma ISO RGD:1344163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25656644 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:25656644 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344163 D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22726846 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:13580 cholestasis disease_progression IEP D RGD:13782189|PMID:29204052 20180828 RGD 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344163 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:630 genetic disease ISO RGD:1344163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17172636|PMID:24769335|PMID:25656644 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1344163 D RGD:11554173 20200908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23607986|PMID:23721867|PMID:25656644|PMID:32320717|PMID:32435917 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9835393|PMID:20636876 20150323 RGD 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1344163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344163 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:19482888|PMID:22293087|PMID:24449422|PMID:28218408 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344163 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14742670|PMID:25656644|PMID:28058446 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344163 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9351 diabetes mellitus ISO RGD:1344163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 621400 Nr1i3 nuclear receptor subfamily 1, group I, member 3 gene DOID:9970 obesity ISO RGD:1344163 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 621401 Reg3a regenerating islet-derived 3 alpha gene DOID:2913 acute pancreatitis severity IMP D RGD:9850139|PMID:19129610 20150330 RGD 621402 Slc32a1 solute carrier family 32 member 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1346344 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 621402 Slc32a1 solute carrier family 32 member 1 gene DOID:1826 epilepsy ISO RGD:1346344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 621402 Slc32a1 solute carrier family 32 member 1 gene DOID:2234 focal epilepsy ISO RGD:1346344 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621402 Slc32a1 solute carrier family 32 member 1 gene DOID:3328 temporal lobe epilepsy ISS RGD:1553492 D RGD:13592920 20210826 MouseDO 621402 Slc32a1 solute carrier family 32 member 1 gene DOID:630 genetic disease ISO RGD:1346344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:1936 atherosclerosis treatment ISO RGD:735763 D RGD:155663380|PMID:30909142 20221115 RGD 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:264 hemangiopericytoma ISO RGD:735762 D RGD:155663351|PMID:26951238 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:3068 glioblastoma ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:3069 malignant astrocytoma ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:3181 oligodendroglioma ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735763 D RGD:13524575|PMID:26067594 20180423 RGD protein:increased expression:spinal chord 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:5199 ureteral obstruction ISO RGD:735762 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:5241 hemangioblastoma ISO RGD:735762 D RGD:155641257|PMID:27388534 20221107 RGD mRNA,protein:increased expression:temporal lobe : 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:630 genetic disease ISO RGD:735762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:6432 pulmonary hypertension ISO RGD:735763 D RGD:155646132|PMID:34739767 20221108 RGD mRNA:decreased expression:lung: 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:625426|PMID:11971902 20150324 RGD 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus IEP D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin: 621403 Hey1 hes-related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:735763 D RGD:155646129|PMID:30886104 20221108 RGD protein:increased expression:skin: 621404 Csnk1g1 casein kinase 1, gamma 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:733469 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 621404 Csnk1g1 casein kinase 1, gamma 1 gene DOID:2717 Bloom syndrome ISO RGD:733469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621404 Csnk1g1 casein kinase 1, gamma 1 gene DOID:630 genetic disease ISO RGD:733469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621404 Csnk1g1 casein kinase 1, gamma 1 gene DOID:9256 colorectal cancer ISO RGD:733469 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:0050451 Brugada syndrome ISO RGD:1354369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23872634 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354369 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20001863 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:264 hemangiopericytoma ISO RGD:1354369 D RGD:155663351|PMID:26951238 20221110 RGD mRNA:increased expression:anterior temporal lobe 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:3069 malignant astrocytoma ISO RGD:1354369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:5199 ureteral obstruction ISO RGD:1354369 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:62 aortic valve disease ISS RGD:1553745 D RGD:13592920 20180518 MouseDO 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:630 genetic disease ISO RGD:1354369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:6419 tetralogy of Fallot ISS RGD:1553745 D RGD:13592920 20180518 MouseDO OMIM:187500 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:799 varicose veins ISO RGD:1354369 D RGD:11529441|PMID:26808710 20221107 RGD mRNA,protein:increased expression:nucleus, vein: 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:8947 diabetic retinopathy ISO RGD:1553745 D RGD:155663348|PMID:30787185 20221110 RGD mRNA:increased expression:retina: 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:625426|PMID:11971902 20150324 RGD 621405 Hey2 hes-related family bHLH transcription factor with YRPW motif 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354369 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 621406 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1351605 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 PMID:24164873 621406 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:0080600 COVID-19 ISO RGD:1351605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621406 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1351605 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621406 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:630 genetic disease ISO RGD:1351605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621406 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351605 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621407 Csnk1g2 casein kinase 1, gamma 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 621407 Csnk1g2 casein kinase 1, gamma 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 621407 Csnk1g2 casein kinase 1, gamma 2 gene DOID:630 genetic disease ISO RGD:734368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621407 Csnk1g2 casein kinase 1, gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734368 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621408 Csnk1g3 casein kinase 1, gamma 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621408 Csnk1g3 casein kinase 1, gamma 3 gene DOID:630 genetic disease ISO RGD:731819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621408 Csnk1g3 casein kinase 1, gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731819 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621408 Csnk1g3 casein kinase 1, gamma 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621409 Pls3 plastin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731591 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621409 Pls3 plastin 3 gene DOID:11476 osteoporosis ISO RGD:731591 D RGD:7240710 20181003 OMIM 621409 Pls3 plastin 3 gene DOID:11476 osteoporosis ISO RGD:731591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 PMID:16199547|PMID:17576681|PMID:24088041|PMID:24088043|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30405713|PMID:33166085|PMID:9536098 621409 Pls3 plastin 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:731591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24088043|PMID:25741868|PMID:28492532 621409 Pls3 plastin 3 gene DOID:12849 autistic disorder ISO RGD:731591 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621409 Pls3 plastin 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731591 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 621409 Pls3 plastin 3 gene DOID:630 genetic disease ISO RGD:731591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621409 Pls3 plastin 3 gene DOID:8398 osteoarthritis ISO RGD:731591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621409 Pls3 plastin 3 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:731591 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868 621409 Pls3 plastin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731591 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621410 Slc5a11 solute carrier family 5 member 11 gene DOID:630 genetic disease ISO RGD:1347645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621411 Klc1 kinesin light chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 621411 Klc1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:5683908|PMID:19911314 20111206 RGD DNA:SNPs: :rs8007903, rs3212079 (human) 621411 Klc1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:5684007|PMID:15364413 20111212 RGD DNA:SNP:intron:56836G>C (human) 621411 Klc1 kinesin light chain 1 gene DOID:1612 breast cancer ISO RGD:1352040 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 621411 Klc1 kinesin light chain 1 gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1352040 D RGD:5684008|PMID:17999208 20111212 RGD DNA:SNP:intron:56836G>C (rs8702) (human) 621411 Klc1 kinesin light chain 1 gene DOID:2394 ovarian cancer ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 621411 Klc1 kinesin light chain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 621411 Klc1 kinesin light chain 1 gene DOID:630 genetic disease ISO RGD:1352040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621411 Klc1 kinesin light chain 1 gene DOID:6846 familial melanoma ISO RGD:1352040 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748 621411 Klc1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:5683912|PMID:17917076 20111206 RGD associated with hypertension;DNA:polymorphism:intron:5836G>C(human) 621411 Klc1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:5683914|PMID:17977659 20111206 RGD associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human) 621412 Utp11 UTP11, small subunit processome component gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731994 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621412 Utp11 UTP11, small subunit processome component gene DOID:630 genetic disease ISO RGD:731994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621413 Bod1l1 biorientation of chromosomes in cell division 1-like 1 gene DOID:630 genetic disease ISO RGD:1344806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732101 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050451 Brugada syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050793 short QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11173780|PMID:12925462|PMID:14676148|PMID:15828882|PMID:18692916|PMID:19088443|PMID:19174314|PMID:19340359|PMID:19413965|PMID:19439805|PMID:19501051|PMID:19926013|PMID:21130771|PMID:21798421|PMID:22194679|PMID:22581653|PMID:23300672|PMID:23471968|PMID:24291113|PMID:25741868|PMID:25974115|PMID:28491588|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050793 short QT syndrome ISS RGD:732102 D RGD:13592920 20180518 MouseDO OMIM:609620 | OMIM:609621 | OMIM:609622 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060224 atrial fibrillation ISO RGD:732101 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060224 atrial fibrillation ISO RGD:732101 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11997281|PMID:12402336|PMID:12829173|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16116052|PMID:16132053|PMID:16487223|PMID:17161064|PMID:17210839|PMID:18060054|PMID:18222980|PMID:18808722|PMID:19841300|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732101 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11222472|PMID:11468227|PMID:11668638|PMID:14998624|PMID:22581653|PMID:24606995|PMID:25417810|PMID:25741868|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110218 Brugada syndrome 1 ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19716085|PMID:22581653|PMID:23861362|PMID:25417810|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:29247119|PMID:29255176|PMID:29752375|PMID:31696929|PMID:32048431 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16166152|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:36203036|PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:7240710 20130425 OMIM 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15466642|PMID:15522280|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576861|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21779290|PMID:21806934|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22876326|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23935525|PMID:23936059|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25119684|PMID:25348405|PMID:25417810|PMID:25447171|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25914329|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28704380|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:34008892|PMID:34135346|PMID:34906502|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:8995352|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30847666|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:28472724|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110650 long QT syndrome 9 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic PMID:14661677|PMID:15840476|PMID:17060380|PMID:19716085|PMID:19862833|PMID:22245016|PMID:22581653|PMID:23139254|PMID:23174487|PMID:23631430|PMID:23936059|PMID:24021552|PMID:24606995|PMID:25417810|PMID:25741868|PMID:25967940|PMID:26213684|PMID:26383259|PMID:26746457|PMID:27231019|PMID:28492532|PMID:30327538|PMID:30369311|PMID:30704477|PMID:31737537|PMID:32048431 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732101 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:7889573|PMID:8635257|PMID:11741928|PMID:12070109|PMID:14510655|PMID:15043509|PMID:15213294|PMID:17467628|PMID:18329740|PMID:18848812|PMID:19057127|PMID:19583963|PMID:20211602|PMID:20513597|PMID:21650221|PMID:22396785|PMID:23103450|PMID:25107562|PMID:28768059 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:1580502|PMID:15840476 19990101 RGD 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18774102|PMID:18776039|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185499|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21769575|PMID:21779290|PMID:21806934|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22617876|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23631430|PMID:23721480|PMID:23861362|PMID:23935525|PMID:23936059|PMID:23980196|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26189708|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29214556|PMID:29247119|PMID:29330128|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:33258288|PMID:34135346|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9806971|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30530868|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32383558|PMID:32475984|PMID:33258288|PMID:33517668|PMID:34135346|PMID:34309407|PMID:34502138|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23470493 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34841674|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12771194|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15181157|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18692916|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19139152|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19174314|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19340359|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20133899|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20950623|PMID:20960616|PMID:20960620|PMID:20975234|PMID:20979233|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22382559|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22407026|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:36203036|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732101 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10753933|PMID:20301308|PMID:21777565|PMID:25741868|PMID:28280240|PMID:28492532|PMID:31696929|PMID:32233023|PMID:32383558 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:630 genetic disease ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220144|PMID:10753933|PMID:10973849|PMID:11170080|PMID:11222472|PMID:11854117|PMID:12354768|PMID:12566525|PMID:14714110|PMID:14998624|PMID:15120823|PMID:15280442|PMID:15840476|PMID:16253912|PMID:16379539|PMID:16432067|PMID:17088455|PMID:17171344|PMID:17560885|PMID:18386051|PMID:18441445|PMID:18593567|PMID:18808722|PMID:19324319|PMID:19716085|PMID:19841300|PMID:19843919|PMID:19862833|PMID:20197117|PMID:20975234|PMID:21185501|PMID:21367833|PMID:22402334|PMID:22515331|PMID:22581653|PMID:22821100|PMID:22949429|PMID:23158531|PMID:23303164|PMID:23470493|PMID:24606995|PMID:24623279|PMID:25417810|PMID:25741868|PMID:26669661|PMID:27251404|PMID:28492532|PMID:28855170|PMID:30276209|PMID:7889573|PMID:8877771 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:767 muscular atrophy ISO RGD:732101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16723379 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10973849|PMID:11854117|PMID:15051636|PMID:22581653|PMID:25417810|PMID:25741868 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14678746|PMID:15673388|PMID:18250272 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32893267|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34712263|PMID:35688147|PMID:36197721|PMID:36203036|PMID:9536098|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:22581653|PMID:25741868|PMID:27000522|PMID:28492532|PMID:32383558 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:732101 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:25417810 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16086867 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9003163 Heart Block ISO RGD:732101 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22402334|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31557540|PMID:32048431|PMID:32475984|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15670565|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19419905|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21536673|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22396785|PMID:22402334|PMID:22573844|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31557540|PMID:31737537|PMID:32048431|PMID:32475984|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18752142|PMID:18791070|PMID:18808722|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21185501|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:34002542|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34712263|PMID:36203036 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732101 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005444 Torsades de Pointes ISO RGD:732101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15043509|PMID:15213294|PMID:20034863 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005444 Torsades de Pointes ISO RGD:732101 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:18724381|PMID:29574456 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:7240710 20130221 OMIM 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11173780|PMID:11222472|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11854117|PMID:11997281|PMID:12402336|PMID:12566525|PMID:12808265|PMID:12829173|PMID:12925462|PMID:14661677|PMID:14676148|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15176425|PMID:15466642|PMID:15599693|PMID:15670565|PMID:15828882|PMID:15840476|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16244680|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16754261|PMID:16818214|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17576681|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18441445|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19088443|PMID:19160088|PMID:19419905|PMID:19439805|PMID:19490267|PMID:19501051|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20301308|PMID:20541041|PMID:20659946|PMID:20850565|PMID:20851114|PMID:21350584|PMID:21536673|PMID:21777565|PMID:21911102|PMID:21956039|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22194679|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22677073|PMID:22764740|PMID:22882672|PMID:2294929|PMID:22949429|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23338923|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24388587|PMID:24606995|PMID:24631775|PMID:24973560|PMID:25140878|PMID:25348405|PMID:25417810|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26164358|PMID:26187847|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27650965|PMID:27711072|PMID:27816319|PMID:27920829|PMID:28003625|PMID:28255936|PMID:28280240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30086531|PMID:30246897|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32048431|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34712263|PMID:34841674|PMID:35688147|PMID:9536098|PMID:9544837 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:17210839|PMID:18222468|PMID:18596570|PMID:18675227|PMID:20674198|PMID:21215473|PMID:22581653|PMID:22995991|PMID:23304551|PMID:24223155|PMID:25417810|PMID:25741868|PMID:26129877|PMID:26332594|PMID:27026747|PMID:27930701|PMID:28492532|PMID:29752375|PMID:30369311 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732101 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007820 Sudden Death ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:15840476|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:18508782|PMID:19716085|PMID:22581653|PMID:25417810|PMID:25741868|PMID:26704558|PMID:28492532|PMID:29725305|PMID:32475984 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 621414 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9970 obesity ISO RGD:732101 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Obesity PMID:10753933|PMID:10973849|PMID:11113008|PMID:11468227|PMID:11668638|PMID:11854117|PMID:12354768|PMID:15051636|PMID:15840476|PMID:16432067|PMID:17160940|PMID:17445409|PMID:18441445|PMID:18593567|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23303164|PMID:24606995|PMID:24623279|PMID:25741868|PMID:26847485|PMID:28492532|PMID:29672598|PMID:30246897|PMID:7889573|PMID:9024139|PMID:9927399 621415 Kcnh4 potassium voltage-gated channel subfamily H member 4 gene DOID:630 genetic disease ISO RGD:733889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0050692 Brody myopathy ISO RGD:1344154 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:28492532 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1344154 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344154 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:2661 myoepithelioma ISO RGD:1344154 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:5419 schizophrenia ISO RGD:1344154 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:630 genetic disease ISO RGD:1344154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621416 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 621417 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 621417 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 621417 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 621417 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:1826 epilepsy ISO RGD:731415 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 621417 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:630 genetic disease ISO RGD:731415 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23647072|PMID:24133262|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226 621418 Adap1 ArfGAP with dual PH domains 1 gene DOID:630 genetic disease ISO RGD:733651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621419 Kpna2 karyopherin subunit alpha 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344039 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621419 Kpna2 karyopherin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621419 Kpna2 karyopherin subunit alpha 2 gene DOID:9006205 Animal Disease Models ISO RGD:1344039 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621420 Nbn nibrin gene DOID:0014667 disease of metabolism ISO RGD:1348611 D RGD:1600219|PMID:9590180 20070305 RGD Nijmegen breakage syndrome, OMIM:251260, DNA:deletion:exon:nt657del5 621420 Nbn nibrin gene DOID:0050453 lissencephaly ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:0080600 COVID-19 ISO RGD:1348611 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621420 Nbn nibrin gene DOID:10283 prostate cancer ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:23555315|PMID:25741868|PMID:26467025|PMID:26976419|PMID:27148588|PMID:27443514|PMID:28492532|PMID:29522266|PMID:30287823 621420 Nbn nibrin gene DOID:10283 prostate cancer susceptibility ISO RGD:1348611 D RGD:2298995|PMID:14973119 20080808 RGD DNA:deletion, loss of heterozygosity 621420 Nbn nibrin gene DOID:10534 stomach cancer ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:11279524|PMID:12433983|PMID:12708449|PMID:15048089|PMID:15758953|PMID:15964794|PMID:16199547|PMID:16415040|PMID:19105185|PMID:21035407|PMID:24033266|PMID:24763289|PMID:24894818|PMID:25741868|PMID:26689913|PMID:26786923|PMID:26976419|PMID:28492532|PMID:29625052|PMID:30287823|PMID:31214711|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32963463|PMID:33471991|PMID:36988593|PMID:9590180 621420 Nbn nibrin gene DOID:10652 Alzheimer's disease ISO RGD:1348611 D RGD:2317734|PMID:15337312 20151118 RGD 621420 Nbn nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:7240710 20160113 OMIM 621420 Nbn nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26976419|PMID:27109316|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28726808|PMID:29335925|PMID:29522266|PMID:29596542|PMID:29678143|PMID:29785153|PMID:30256826|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:32566746|PMID:33471991 621420 Nbn nibrin gene DOID:1520 colon carcinoma ISO RGD:1348611 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746 621420 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33095795|PMID:33471991|PMID:9590180|PMID:9620777 621420 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32885271|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:1612 breast cancer disease_progression ISO RGD:1348611 D RGD:2298993|PMID:17337132 20080808 RGD protein:decreased expression:breast 621420 Nbn nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:2298991|PMID:17932350 20080808 RGD DNA:SNP 621420 Nbn nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:2298992|PMID:17899368 20080808 RGD DNA:missense mutation:exon:p.I171V 621420 Nbn nibrin gene DOID:1993 rectum cancer susceptibility ISO RGD:1348611 D RGD:151361212|PMID:26735576 20220301 RGD DNA:SNP:3'utr: (rs14448) (human) 621420 Nbn nibrin gene DOID:2394 ovarian cancer ISO RGD:1348611 D RGD:2298994|PMID:16424057 20080808 RGD 621420 Nbn nibrin gene DOID:2394 ovarian cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24349281|PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:30982232|PMID:32885271|PMID:33471991 621420 Nbn nibrin gene DOID:3459 breast carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25485873|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30980208|PMID:31159747|PMID:31173646|PMID:32295079|PMID:32566746|PMID:32658311|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:4001 ovarian carcinoma ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16415040|PMID:28492532|PMID:9590180 621420 Nbn nibrin gene DOID:4905 pancreatic carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:5426 primary ovarian insufficiency ISO RGD:1348611 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16415040|PMID:28492532|PMID:29706645|PMID:9590180 621420 Nbn nibrin gene DOID:5603 T-cell acute lymphoblastic leukemia ISS RGD:732723 D RGD:13592920 20211021 MouseDO 621420 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22941933|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25186627|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29522266|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 621420 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 621420 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33800431|PMID:34072463|PMID:9536098|PMID:9590180|PMID:9620777 621420 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:630 genetic disease ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621420 Nbn nibrin gene DOID:684 hepatocellular carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16521404|PMID:17395558|PMID:18186968 621420 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:7240710 20160113 OMIM 621420 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:10398434|PMID:10792024|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12419185|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279770|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17384674|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19763152|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20307669|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22406018|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23265383|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28076792|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29706645|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30875412|PMID:30942098|PMID:30952868|PMID:30980208|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524 621420 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14973119|PMID:25415046 621420 Nbn nibrin gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17429352|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33800431|PMID:34072463|PMID:3802554|PMID:9536098|PMID:9590180|PMID:9620777 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32906206|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34169133|PMID:34204722|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9620777 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395 621420 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16415040|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:20805886|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24113799|PMID:25186627|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28135145|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29419426|PMID:30374176|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 621420 Nbn nibrin gene DOID:9637 stomatitis ISO RGD:1348611 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 621420 Nbn nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:7240710 20230505 OMIM 621420 Nbn nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:11325820|PMID:14559852|PMID:15338273|PMID:16415040|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746|PMID:34072463|PMID:9590180 621421 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:0060747 Duane-radial ray syndrome ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:15342710 621421 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:630 genetic disease ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621421 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:7240710 20230505 OMIM 621421 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities PMID:25741868|PMID:34379057|PMID:34764295|PMID:36604604 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:735245 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:20018576|PMID:23825041|PMID:25641190|PMID:29031482 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:7240710 20130221 OMIM 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:10633133|PMID:11243727|PMID:11544478|PMID:11901270|PMID:12208142|PMID:12507422|PMID:1301198|PMID:14523039|PMID:14635103|PMID:16115930|PMID:16199547|PMID:16442322|PMID:16542398|PMID:16545979|PMID:17438226|PMID:17576681|PMID:19484191|PMID:20304328|PMID:21612881|PMID:22437753|PMID:23430864|PMID:23825041|PMID:23926001|PMID:24033266|PMID:25122112|PMID:25246302|PMID:25363768|PMID:25431891|PMID:25558043|PMID:25741868|PMID:26220405|PMID:26268900|PMID:26964512|PMID:27056292|PMID:27104484|PMID:27117035|PMID:27815844|PMID:27824329|PMID:27896081|PMID:28186584|PMID:28191889|PMID:28407358|PMID:28492532|PMID:28664505|PMID:29895405|PMID:30091983|PMID:30829465|PMID:31117962|PMID:31267348|PMID:32005694|PMID:32093054|PMID:32223457|PMID:32238909|PMID:32348839|PMID:32395407|PMID:32402538|PMID:32887777|PMID:32907636|PMID:33203024|PMID:34882073|PMID:9536098|PMID:9683595 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735245 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:10283 prostate cancer ISO RGD:735245 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:1059 intellectual disability ISO RGD:735245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23825041 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:1059 intellectual disability ISO RGD:735245 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:1826 epilepsy ISO RGD:735245 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:1826 epilepsy ISS RGD:1623821 D RGD:13592920 20180518 MouseDO 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:543 dystonia ISO RGD:735245 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:630 genetic disease ISO RGD:735245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11243727|PMID:11544478|PMID:14635103|PMID:16199547|PMID:19484191|PMID:25431891|PMID:25741868|PMID:27104484|PMID:27896081|PMID:28492532|PMID:30091983|PMID:32402538|PMID:33203024|PMID:34882073 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:9003814 Neurologic Manifestations ISO RGD:735245 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:735245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 621422 Aldh5a1 aldehyde dehydrogenase 5 family, member A1 gene DOID:9006205 Animal Disease Models ISO RGD:735245 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 621423 Frk fyn-related Src family tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:734122 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 621423 Frk fyn-related Src family tyrosine kinase gene DOID:10603 glucose intolerance ISO RGD:734122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17179392 621423 Frk fyn-related Src family tyrosine kinase gene DOID:2907 Goldenhar syndrome ISO RGD:734122 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome 621423 Frk fyn-related Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:734122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621424 Lig1 DNA ligase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 621424 Lig1 DNA ligase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731763 D RGD:1600089|PMID:1351188 20070228 RGD DNA ligase I deficiency 621424 Lig1 DNA ligase 1 gene DOID:630 genetic disease ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621424 Lig1 DNA ligase 1 gene DOID:655 inherited metabolic disorder ISO RGD:731763 D RGD:1600089|PMID:1351188 20070228 RGD DNA ligase I deficiency 621424 Lig1 DNA ligase 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures IMP D RGD:14995940|PMID:30813600 20200130 RGD 621424 Lig1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:7240710 20220316 OMIM 621424 Lig1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 96 PMID:1581963|PMID:17576681|PMID:19223467|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799|PMID:9536098 621425 Ptch1 patched 1 gene DOID:0050860 colorectal adenoma ISO RGD:1319156 D RGD:150523840|PMID:24612059 20211123 RGD 621425 Ptch1 patched 1 gene DOID:0050902 medulloblastoma ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18347096|PMID:19155313|PMID:19213072 621425 Ptch1 patched 1 gene DOID:0050902 medulloblastoma ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16301862|PMID:16419085|PMID:22952776|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:0050902 medulloblastoma ISO RGD:1319157 D RGD:150523834|PMID:19321799 20211123 RGD 621425 Ptch1 patched 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:0060327 omphalocele ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 621425 Ptch1 patched 1 gene DOID:0060673 Peters anomaly ISO RGD:1319156 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:1347096|PMID:26893459|PMID:28492532 621425 Ptch1 patched 1 gene DOID:0080016 spina bifida ISO RGD:1319156 D RGD:12801432|PMID:26446020 20170330 RGD protein:decreased expression:brain 621425 Ptch1 patched 1 gene DOID:0080600 COVID-19 ISO RGD:1319156 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621425 Ptch1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:7240710 20130425 OMIM 621425 Ptch1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:11941477|PMID:12204003|PMID:12925203|PMID:1347096|PMID:15712338|PMID:16231297|PMID:16301862|PMID:17001668|PMID:17096318|PMID:17985375|PMID:18502968|PMID:19346217|PMID:20485063|PMID:21188540|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24368541|PMID:24728327|PMID:24942795|PMID:25260786|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26893459|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28733979|PMID:28873162|PMID:29498494|PMID:29575684|PMID:30262796|PMID:31180159|PMID:31655866|PMID:32074614|PMID:32321774|PMID:32409749|PMID:32906206|PMID:33209614|PMID:33466296|PMID:33729574|PMID:34831015|PMID:8302318|PMID:9463336 621425 Ptch1 patched 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1319156 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 621425 Ptch1 patched 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319156 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:16231297|PMID:23334667|PMID:24728327|PMID:25567908|PMID:25741868|PMID:26467025|PMID:26559152|PMID:26802149|PMID:26893459|PMID:28492532|PMID:33729574 621425 Ptch1 patched 1 gene DOID:10460 nasopharyngitis ISO RGD:1319156 D RGD:150523839|PMID:23001130 20211123 RGD mRNA:decreased expression:epithelium of nasopharynx 621425 Ptch1 patched 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:16231297|PMID:23334667|PMID:24728327|PMID:26467025|PMID:26559152|PMID:26893459|PMID:28492532|PMID:33729574 621425 Ptch1 patched 1 gene DOID:10534 stomach cancer ISO RGD:1319156 D RGD:150523838|PMID:19673023 20211123 RGD DNA:hypermethylation:promoter 621425 Ptch1 patched 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319156 D RGD:150523836|PMID:23371028 20211123 RGD 621425 Ptch1 patched 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319156 D RGD:150523844|PMID:22456124 20211123 RGD 621425 Ptch1 patched 1 gene DOID:10534 stomach cancer severity ISO RGD:1319156 D RGD:150523843|PMID:23440386 20211123 RGD 621425 Ptch1 patched 1 gene DOID:1059 intellectual disability ISO RGD:1319156 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621425 Ptch1 patched 1 gene DOID:10908 hydrocephalus ISO RGD:1319156 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:28492532|PMID:29983323 621425 Ptch1 patched 1 gene DOID:11830 myopia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:13223 uterine fibroid ISO RGD:1319156 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 621425 Ptch1 patched 1 gene DOID:13636 Fanconi anemia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17924555|PMID:23613520|PMID:28492532|PMID:31558676 621425 Ptch1 patched 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1319156 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 621425 Ptch1 patched 1 gene DOID:1682 congenital heart disease ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25637381|PMID:28492532 621425 Ptch1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19077462 621425 Ptch1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:2324910|PMID:19396459 20100514 RGD protein:increased expression:pancreas 621425 Ptch1 patched 1 gene DOID:2120 focal dermal hypoplasia ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:11457640|PMID:12204003|PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:2394 ovarian cancer ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16931872|PMID:24204797|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29205322|PMID:30093976|PMID:31645765 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16405370|PMID:16936257|PMID:18539553|PMID:19287498|PMID:25559776|PMID:25876211 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:12798568|PMID:12925203 20170328 RGD DNA:mutations:exon, intron:multiple 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:12801422|PMID:21514272 20170329 RGD DNA:missense mutation:exon:p.E237EK (897G>A) (human) 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:12801443|PMID:15308259 20170331 RGD 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:13207421|PMID:19557015 20170728 RGD DNA: nonsense mutation:exon:p.W399* (human) 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12900905|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17328283|PMID:17349603|PMID:17576681|PMID:17703323|PMID:17924555|PMID:18302678|PMID:18373848|PMID:18477452|PMID:1850296|PMID:18502968|PMID:18510667|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:20068110|PMID:20301330|PMID:20485063|PMID:20690502|PMID:21188540|PMID:21368767|PMID:21490102|PMID:21514272|PMID:21567912|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22829011|PMID:22844361|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24369017|PMID:24529220|PMID:24651015|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24942795|PMID:25117323|PMID:25131638|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29277811|PMID:29381605|PMID:29446198|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29983323|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30368514|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31644632|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32741058|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33418956|PMID:33441926|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34008892|PMID:34426522|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9341860|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 621425 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319157 D RGD:13207424|PMID:23897749 20170728 RGD DNA: splice-site mutation :exon 621425 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815|PMID:18854826|PMID:26950094 621425 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:7240710 20230505 OMIM 621425 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8782823|PMID:9620294 621425 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:11941477|PMID:15712338|PMID:16301862|PMID:16419085|PMID:17096318|PMID:22703879|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29205322|PMID:30411536|PMID:31645765|PMID:32409749|PMID:33332384|PMID:8782823|PMID:9620294 621425 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319157 D RGD:704355|PMID:9422511 19990101 RGD 621425 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:1319156 D RGD:12801453|PMID:10504535 20170331 RGD mRNA:increased expression:skin of body 621425 Ptch1 patched 1 gene DOID:3213 demyelinating disease treatment ISO RGD:1319157 D RGD:12801445|PMID:15128833 20170331 RGD 621425 Ptch1 patched 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19155313 621425 Ptch1 patched 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:33372952 621425 Ptch1 patched 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:1319157 D RGD:150523834|PMID:19321799 20211123 RGD 621425 Ptch1 patched 1 gene DOID:3304 germinoma ISO RGD:1319156 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Germinoma PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:3459 breast carcinoma ISO RGD:1319156 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:150523841|PMID:16475698 20211123 RGD 621425 Ptch1 patched 1 gene DOID:3840 craniopharyngioma ISO RGD:1319156 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:29230040 621425 Ptch1 patched 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:150524337|PMID:21889114 20211129 RGD DNA:CNVs 621425 Ptch1 patched 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1319156 D RGD:150524339|PMID:33359005 20211129 RGD 621425 Ptch1 patched 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330|PMID:28492532 621425 Ptch1 patched 1 gene DOID:4195 hyperglycemia ISO RGD:1319156 D RGD:2324911|PMID:16804411 20100514 RGD associated with Pancreatic Neoplasms 621425 Ptch1 patched 1 gene DOID:4621 holoprosencephaly ISO RGD:1319156 D RGD:12798567|PMID:11941477 20170328 RGD DNA:missense mutations:exon:multiple 621425 Ptch1 patched 1 gene DOID:4621 holoprosencephaly ISO RGD:1319156 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:11941477|PMID:17001668|PMID:21188540|PMID:22703879|PMID:22820256|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26893459|PMID:27153395|PMID:28492532|PMID:8302318 621425 Ptch1 patched 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1319156 D RGD:150523794|PMID:22407314 20211122 RGD 621425 Ptch1 patched 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 621425 Ptch1 patched 1 gene DOID:5522 basaloid squamous cell carcinoma ISO RGD:1319156 D RGD:150523793|PMID:25395299 20211122 RGD DNA:missense mutations, nonsense mutations 621425 Ptch1 patched 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:630 genetic disease ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941477|PMID:12879481|PMID:15545745|PMID:16301862|PMID:16419085|PMID:17001668|PMID:22313357|PMID:22703879|PMID:24204797|PMID:24529220|PMID:25403219|PMID:26356331|PMID:26604511|PMID:28492532|PMID:29212164|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911 621425 Ptch1 patched 1 gene DOID:674 cleft palate ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 621425 Ptch1 patched 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319156 D RGD:150523842|PMID:22911366 20211123 RGD 621425 Ptch1 patched 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319156 D RGD:150523837|PMID:18538319 20211123 RGD 621425 Ptch1 patched 1 gene DOID:768 retinoblastoma ISO RGD:1319156 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:24728327|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:769 neuroblastoma ISO RGD:1319156 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:12859044|PMID:23933201 20170411 RGD mRNA, protein:increased expression:brain 621425 Ptch1 patched 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319156 D RGD:150523835|PMID:20230186 20211123 RGD associated with colorectal cancer 621425 Ptch1 patched 1 gene DOID:9001044 Choroidal Neovascularization IEP D RGD:12859045|PMID:21063852 20221130 RGD mRNA,protein:increased expression:choroid: 621425 Ptch1 patched 1 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:12879456|PMID:25821409 20170420 RGD 621425 Ptch1 patched 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10564585|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 621425 Ptch1 patched 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME PMID:12204003|PMID:24728327|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:9004237 Hyperoxic Lung Injury IEP D RGD:12859031|PMID:22641469 20170411 RGD mRNA, protein:increased expression:lung 621425 Ptch1 patched 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 621425 Ptch1 patched 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:1319156 D RGD:150520176|PMID:22945423 20211101 RGD DNA:hypermethylation:colon 621425 Ptch1 patched 1 gene DOID:9005729 Chronic Experimental Pancreatitis IEP D RGD:12879405|PMID:24782623 20170418 RGD 621425 Ptch1 patched 1 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1319156 D RGD:7240710 20230505 OMIM 621425 Ptch1 patched 1 gene DOID:9005987 Basal Cell Nevus Syndrome 1 ISO RGD:1319156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:11457640|PMID:12204003|PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1319157 D RGD:150523834|PMID:19321799 20211123 RGD 621425 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 621425 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 621425 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:33077954|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33609447|PMID:33729574|PMID:34426522|PMID:34698632|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 621425 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 621425 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 621425 Ptch1 patched 1 gene DOID:9007284 Precocious Puberty ISO RGD:1319156 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Precocious puberty 621425 Ptch1 patched 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 621425 Ptch1 patched 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1319156 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:12204003|PMID:24728327|PMID:25741868|PMID:28492532 621425 Ptch1 patched 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:31837199|PMID:9536098 621425 Ptch1 patched 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16405370|PMID:18539553 621425 Ptch1 patched 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319156 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32321774 621425 Ptch1 patched 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319156 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 621425 Ptch1 patched 1 gene DOID:9296 cleft lip ISO RGD:1319156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 621426 Slc44a1 solute carrier family 44 member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1352703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 621426 Slc44a1 solute carrier family 44 member 1 gene DOID:3070 high grade glioma ISO RGD:1352703 D RGD:11087038|PMID:26671581 20180817 RGD DNA:gene fusion: : 621426 Slc44a1 solute carrier family 44 member 1 gene DOID:630 genetic disease ISO RGD:1352703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621426 Slc44a1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:7240710 20200805 OMIM 621426 Slc44a1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline PMID:25741868|PMID:28097321|PMID:31855247 621426 Slc44a1 solute carrier family 44 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352703 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621427 Artn artemin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 621427 Artn artemin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347630 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621427 Artn artemin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 621427 Artn artemin gene DOID:12689 acoustic neuroma ISO RGD:1347630 D RGD:8655552|PMID:19937367 20140515 RGD mRNA:increased expression:peripheral nerve: 621427 Artn artemin gene DOID:1793 pancreatic cancer ISO RGD:1347630 D RGD:2325815|PMID:20395845 20100610 RGD 621427 Artn artemin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1347630 D RGD:2325817|PMID:19304517 20100610 RGD mRNA:increased expression:pancreas 621427 Artn artemin gene DOID:3310 atopic dermatitis ISO RGD:1347630 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 621427 Artn artemin gene DOID:574 peripheral nervous system disease IEP D RGD:2325819|PMID:20302919 20100610 RGD 621427 Artn artemin gene DOID:574 peripheral nervous system disease IMP D RGD:2325821|PMID:18344995 20100610 RGD 621427 Artn artemin gene DOID:630 genetic disease ISO RGD:1347630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621427 Artn artemin gene DOID:9006202 Pruritus ISO RGD:1347630 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 621427 Artn artemin gene DOID:9006205 Animal Disease Models ISO RGD:1347630 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 621427 Artn artemin gene DOID:9008939 Breast Neoplasms ISO RGD:1347630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20305694 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1350349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1350349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350349 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:13223 uterine fibroid severity ISO RGD:1350349 D RGD:14394614|PMID:23892540 20190329 RGD DNA:SNP: :rs12484776(human) 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:13560 subserous uterine fibroid severity ISO RGD:1350349 D RGD:14394614|PMID:23892540 20190329 RGD DNA:SNP: :rs12484776(human) 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:630 genetic disease ISO RGD:1350349 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350349 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32152250 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:7240710 20210519 OMIM 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities PMID:25741868|PMID:29463886|PMID:32152250|PMID:33004838 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1350349 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621428 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9009097 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 621429 Pglyrp1 peptidoglycan recognition protein 1 gene DOID:630 genetic disease ISO RGD:1351704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621429 Pglyrp1 peptidoglycan recognition protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1351704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350550 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:29211846 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:305 carcinoma ISO RGD:1350550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:630 genetic disease ISO RGD:1350550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:9006004 Mitochondrial DNA Depletion Syndrome 19 ISO RGD:1350550 D RGD:7240710 20200812 OMIM 621430 Slc25a10 solute carrier family 25 member 10 gene DOID:9006004 Mitochondrial DNA Depletion Syndrome 19 ISO RGD:1350550 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 PMID:25741868|PMID:29211846 621431 Lifr LIF receptor subunit alpha gene DOID:0080205 CAKUT ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:26627873|PMID:28334964|PMID:28492532|PMID:34063511|PMID:34426522 621431 Lifr LIF receptor subunit alpha gene DOID:0080205 CAKUT ISS RGD:732565 D RGD:13592920 20180809 MouseDO 621431 Lifr LIF receptor subunit alpha gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1354198 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:14740318|PMID:28492532 621431 Lifr LIF receptor subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1354198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 621431 Lifr LIF receptor subunit alpha gene DOID:2256 osteochondrodysplasia ISO RGD:1354198 D RGD:1600614|PMID:14740318 20070320 RGD Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, OMIM:151443 621431 Lifr LIF receptor subunit alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 621431 Lifr LIF receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621431 Lifr LIF receptor subunit alpha gene DOID:65 connective tissue disease ISO RGD:1354198 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28334964|PMID:28492532 621431 Lifr LIF receptor subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1354198 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621431 Lifr LIF receptor subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 621431 Lifr LIF receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354198 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621431 Lifr LIF receptor subunit alpha gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:14740318|PMID:16199547|PMID:17576681|PMID:20447141|PMID:24033266|PMID:24477277|PMID:24988918|PMID:25326635|PMID:25540807|PMID:25741868|PMID:25868946|PMID:26627873|PMID:26752647|PMID:28334964|PMID:28492532|PMID:30614825|PMID:34063511|PMID:34426522|PMID:9536098 621431 Lifr LIF receptor subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1581858|PMID:15786720 20061027 RGD 621431 Lifr LIF receptor subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1354198 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 621431 Lifr LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19603067 621431 Lifr LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:7240710 20130221 OMIM 621431 Lifr LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:14740318|PMID:16199547|PMID:24477277|PMID:25741868|PMID:25868946|PMID:26627873|PMID:28334964|PMID:28492532|PMID:30919572|PMID:34063511|PMID:34426522 621432 Klc3 kinesin light chain 3 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1604744 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum 621432 Klc3 kinesin light chain 3 gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1604744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:25741868 621432 Klc3 kinesin light chain 3 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1604744 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868 621432 Klc3 kinesin light chain 3 gene DOID:630 genetic disease ISO RGD:1604744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621433 Slc25a14 solute carrier family 25 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736693 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621433 Slc25a14 solute carrier family 25 member 14 gene DOID:12849 autistic disorder ISO RGD:736693 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621435 Prom2 prominin 2 gene DOID:630 genetic disease ISO RGD:1353767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:733316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:10283 prostate cancer ISO RGD:733316 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:14330 Parkinson's disease ISO RGD:733316 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18619942 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:733316 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:30512237 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:630 genetic disease ISO RGD:733316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621436 Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733316 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18619942 621437 H2ac25 H2A clustered histone 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1320935 D RGD:8554872 20220111 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621437 H2ac25 H2A clustered histone 25 gene DOID:630 genetic disease ISO RGD:1320935 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621437 H2ac25 H2A clustered histone 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320935 D RGD:8554872 20220111 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621438 Thpo thrombopoietin gene DOID:0050700 cardiomyopathy ISO RGD:1351706 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16651473 621438 Thpo thrombopoietin gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1351706 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 621438 Thpo thrombopoietin gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1351706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 621438 Thpo thrombopoietin gene DOID:0111546 Currarino syndrome ISO RGD:1351706 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 621438 Thpo thrombopoietin gene DOID:12449 aplastic anemia ISO RGD:1351706 D RGD:11073680|PMID:24085763 20160503 RGD DNA:mutation:cds:c.112C>T(human) 621438 Thpo thrombopoietin gene DOID:12449 aplastic anemia no_association ISO RGD:1351706 D RGD:11073679|PMID:22686250 20160503 RGD DNA:SNPs:exons: 621438 Thpo thrombopoietin gene DOID:14115 toxic shock syndrome ISO RGD:1351706 D RGD:10449021|PMID:20467749 20160503 RGD protein:increased expression:serum: 621438 Thpo thrombopoietin gene DOID:1588 thrombocytopenia ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28466964|PMID:31064749|PMID:32150607 621438 Thpo thrombopoietin gene DOID:2213 hemorrhagic disease ISO RGD:1351706 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 621438 Thpo thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:1580083|PMID:9425899 20160503 RGD DNA:mutation:splice junction: 621438 Thpo thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:7240710 20130221 OMIM 621438 Thpo thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:10583217|PMID:19553636|PMID:22194398|PMID:25741868|PMID:28492532|PMID:28955303|PMID:32430933|PMID:7772529|PMID:9425899|PMID:9694695 621438 Thpo thrombopoietin gene DOID:2228 thrombocytosis ISO RGD:1351706 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:33122006 621438 Thpo thrombopoietin gene DOID:2228 thrombocytosis susceptibility ISO RGD:1351706 D RGD:1601655|PMID:9694695 20070427 RGD DNA:deletion:5' utr 621438 Thpo thrombopoietin gene DOID:5082 liver cirrhosis ISO RGD:1351706 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9794189|REF_RGD_ID:1580082 621438 Thpo thrombopoietin gene DOID:5160 arteriosclerosis obliterans ISO RGD:1351706 D RGD:1601656|PMID:10822072 20070427 RGD 621438 Thpo thrombopoietin gene DOID:630 genetic disease ISO RGD:1351706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24085763|PMID:28492532|PMID:29191945 621438 Thpo thrombopoietin gene DOID:6432 pulmonary hypertension ISO RGD:1351706 D RGD:1580087|PMID:12487786 20070427 RGD protein:increased expression:pulmonary artery, plasma 621438 Thpo thrombopoietin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1580082|PMID:9794189 20070427 RGD mRNA:decreased expression:liver 621438 Thpo thrombopoietin gene DOID:9007096 Stroke ISO RGD:1351706 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:18367486|PMID:25741868 621438 Thpo thrombopoietin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351706 D RGD:11554173 20210413 CTD CTD Direct Evidence: therapeutic PMID:33122006 621440 Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1343442 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 621440 Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 gene DOID:0060484 EAST syndrome ISO RGD:1343442 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 621440 Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 621440 Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1343442 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621440 Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 gene DOID:630 genetic disease ISO RGD:1343442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621440 Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343442 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:1349142 D RGD:8554872 20190402 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 PMID:25741868 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080759 Fanconi renotubular syndrome 3 ISO RGD:1349142 D RGD:7240710 20190327 OMIM 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0080759 Fanconi renotubular syndrome 3 ISO RGD:1349142 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 PMID:1627757|PMID:24401050|PMID:25741868|PMID:35738466 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:0111546 Currarino syndrome ISO RGD:1349142 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:1062 Fanconi syndrome ISO RGD:1349142 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:303 substance-related disorder ISO RGD:1349142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1349142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:784 chronic kidney disease ISO RGD:1349142 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 621441 Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349142 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 621442 Nrp2 neuropilin 2 gene DOID:0060041 autism spectrum disorder ISS RGD:1551257 D RGD:13592920 20190516 MouseDO 621442 Nrp2 neuropilin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:732191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 621442 Nrp2 neuropilin 2 gene DOID:12849 autistic disorder ISO RGD:732191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17427189 621442 Nrp2 neuropilin 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 621442 Nrp2 neuropilin 2 gene DOID:630 genetic disease ISO RGD:732191 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621442 Nrp2 neuropilin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732191 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621443 Slc25a20 solute carrier family 25 member 20 gene DOID:0060041 autism spectrum disorder ISO RGD:732535 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621443 Slc25a20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:7240710 20130221 OMIM 621443 Slc25a20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:10384384|PMID:10697964|PMID:11162577|PMID:11350184|PMID:11592821|PMID:12559850|PMID:12801121|PMID:12859414|PMID:15057979|PMID:15365988|PMID:1598097|PMID:16199547|PMID:16919490|PMID:17277394|PMID:17576681|PMID:21605995|PMID:22020112|PMID:24088670|PMID:25032985|PMID:25459972|PMID:25614308|PMID:25741868|PMID:26238931|PMID:27066551|PMID:28492532|PMID:31319225|PMID:31589614|PMID:32340404|PMID:33634872|PMID:5365988|PMID:9399886|PMID:9536098|PMID:9686371 621443 Slc25a20 solute carrier family 25 member 20 gene DOID:630 genetic disease ISO RGD:732535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621443 Slc25a20 solute carrier family 25 member 20 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732535 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 621443 Slc25a20 solute carrier family 25 member 20 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:0050591 tooth agenesis ISO RGD:1350119 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:12859 choreatic disease ISO RGD:1350119 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:13714 anodontia ISO RGD:1350119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:28492532 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:630 genetic disease ISO RGD:1350119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:9006116 Mitochondrial DNA Depletion Syndrome 18 ISO RGD:1350119 D RGD:7240710 20200408 OMIM 621444 Slc25a21 solute carrier family 25 member 21 gene DOID:9006116 Mitochondrial DNA Depletion Syndrome 18 ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 PMID:25741868|PMID:28492532|PMID:29517768 621445 Klf4 KLF transcription factor 4 gene DOID:0060903 thrombosis ISO RGD:1342656 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25339356 621445 Klf4 KLF transcription factor 4 gene DOID:0080600 COVID-19 ISO RGD:1342656 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 621445 Klf4 KLF transcription factor 4 gene DOID:1682 congenital heart disease ISO RGD:1342656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 621445 Klf4 KLF transcription factor 4 gene DOID:630 genetic disease ISO RGD:1342656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621445 Klf4 KLF transcription factor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621445 Klf4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342656 D RGD:14402023|PMID:22677193 20190522 RGD 621445 Klf4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1342656 D RGD:14402023|PMID:22677193 20190522 RGD 621445 Klf4 KLF transcription factor 4 gene DOID:9005835 Congenital Abnormalities ISO RGD:1342656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 621445 Klf4 KLF transcription factor 4 gene DOID:9006182 Carotid Artery Injuries ameliorates IMP D RGD:155230825|PMID:29127880 20220922 RGD 621445 Klf4 KLF transcription factor 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342656 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621446 Klf5 KLF transcription factor 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345927 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 621446 Klf5 KLF transcription factor 5 gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:1345927 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF 621446 Klf5 KLF transcription factor 5 gene DOID:10941 intracranial aneurysm ISO RGD:1345927 D RGD:155883158|PMID:30201338 20230201 RGD protein:increased expression:artery 621446 Klf5 KLF transcription factor 5 gene DOID:11054 urinary bladder cancer ISO RGD:1345927 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27514407 621446 Klf5 KLF transcription factor 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1345927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 621446 Klf5 KLF transcription factor 5 gene DOID:1793 pancreatic cancer ISO RGD:1345927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 621446 Klf5 KLF transcription factor 5 gene DOID:224 transient cerebral ischemia ameliorates IMP D RGD:45073134|PMID:32272873 20210715 RGD 621446 Klf5 KLF transcription factor 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345927 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30639269 621446 Klf5 KLF transcription factor 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1345927 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 621446 Klf5 KLF transcription factor 5 gene DOID:5082 liver cirrhosis ISO RGD:1345927 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 621446 Klf5 KLF transcription factor 5 gene DOID:630 genetic disease ISO RGD:1345927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621446 Klf5 KLF transcription factor 5 gene DOID:657 adenoma ISO RGD:1551083 D RGD:1304288|PMID:14726538 20061024 RGD 621446 Klf5 KLF transcription factor 5 gene DOID:9000784 Fibrosis severity ISO RGD:1551083 D RGD:1304323|PMID:15098654 20061024 RGD 621446 Klf5 KLF transcription factor 5 gene DOID:9002514 Neointima IEP D RGD:1581746|PMID:10417400 20061024 RGD 621446 Klf5 KLF transcription factor 5 gene DOID:9002514 Neointima ISO RGD:1345927 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16224062 621446 Klf5 KLF transcription factor 5 gene DOID:9003936 Cardiomegaly ISO RGD:1551083 D RGD:1304323|PMID:15098654 20061024 RGD 621446 Klf5 KLF transcription factor 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1345927 D RGD:11554173 20200805 CTD CTD Direct Evidence: therapeutic PMID:32173973 621446 Klf5 KLF transcription factor 5 gene DOID:9005396 Intimal Hyperplasia IEP D RGD:1581748|PMID:11120052 20061024 RGD 621446 Klf5 KLF transcription factor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345927 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 621447 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731790 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621447 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:630 genetic disease ISO RGD:731790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621447 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9002221 Hyperplasia ISO RGD:731790 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23291559 621447 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9008681 Deafness IEP D RGD:2316516|PMID:17884299 20100215 RGD mRNA:decreased expression:brain, neuron 621447 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731790 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1354126 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354126 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder ISO RGD:1354126 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21871532 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder susceptibility ISO RGD:732064 D RGD:9831184|PMID:16906152 20150302 RGD 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:732064 D RGD:9831121|PMID:15175651 20150225 RGD 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia IEP D RGD:9831122|PMID:25062759 20150225 RGD protein:increased expression:cerebral cortex (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia severity ISO RGD:732064 D RGD:9831121|PMID:15175651 20150225 RGD 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia treatment IDA D RGD:9831178|PMID:24154701 20150302 RGD 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:2316 brain ischemia IEP D RGD:9831127|PMID:14741413 20150225 RGD mRNA:increased expression:hippocampus (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:5844 myocardial infarction IEP D RGD:9831182|PMID:21683547 20150302 RGD mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:6000 congestive heart failure IEP D RGD:9831185|PMID:25016242 20150302 RGD associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1354126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:9831183|PMID:22425721 20150302 RGD 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9002211 Hyperalgesia ISO RGD:732064 D RGD:9831112|PMID:16675954 20150225 RGD 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9831114|PMID:23232841 20150225 RGD protein:increased expression:endocardium of left ventricle (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9005372 Inflammation IEP D RGD:9831113|PMID:22273507 20150225 RGD mRNA:decreased expression:dorsal root ganglia (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9007102 Myocardial Ischemia IEP D RGD:9831164|PMID:24705172 20150227 RGD mRNA:increased expression:heart left ventricle, epicardium, endocardium (rat) 621448 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354126 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:1059 intellectual disability ISO RGD:733987 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:1826 epilepsy ISO RGD:733987 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30290154 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:3070 high grade glioma ISO RGD:733987 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:630 genetic disease ISO RGD:733987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:7240710 20190424 OMIM 621449 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome PMID:25741868|PMID:28492532|PMID:30290154 621450 Kcnk6 potassium two pore domain channel subfamily K member 6 gene DOID:630 genetic disease ISO RGD:735903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621451 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:7240710 20130221 OMIM 621451 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome PMID:18678320|PMID:23236211|PMID:25326635|PMID:25741868|PMID:27151206|PMID:28333430|PMID:28882594|PMID:29165669|PMID:30690205|PMID:35698242 621451 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734260 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 621451 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:1825 childhood absence epilepsy ISO RGD:734260 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15781965 621451 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:630 genetic disease ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10734076|PMID:25326635|PMID:25741868|PMID:29165669|PMID:35698242 621451 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:9008582 Developmental Disease ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 621453 Tpbg trophoblast glycoprotein gene DOID:0111953 immunodeficiency 23 ISO RGD:1345613 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 621453 Tpbg trophoblast glycoprotein gene DOID:630 genetic disease ISO RGD:1345613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621453 Tpbg trophoblast glycoprotein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:7240710 20190315 OMIM 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SWEENEY-COX SYNDROME | ClinVar Annotator: match by term: Sweeney-Cox syndrome PMID:10649491|PMID:15923834|PMID:18391498|PMID:21876555|PMID:25271085|PMID:25741868|PMID:27884935|PMID:28369379|PMID:28492532|PMID:29304373|PMID:30450715|PMID:31754721|PMID:8988166|PMID:9259286 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15923834|PMID:23354436 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:1349130 D RGD:1624353|PMID:8988166 20070510 RGD SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11474656 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:7240710 20180725 OMIM 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11854168|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15099347|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17651129|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:22995991|PMID:23527594|PMID:24127277|PMID:25271085|PMID:25741868|PMID:25741869|PMID:26114524|PMID:26416026|PMID:28369379|PMID:28492532|PMID:28617965|PMID:29037998|PMID:29304373|PMID:29597095|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856|PMID:9934984 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1349130 D RGD:151665821|PMID:27524420 20220405 RGD 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12221714 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:7240710 20130731 OMIM 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:20643727|PMID:21520333|PMID:22382802|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:30651579|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:17343269|PMID:19373776|PMID:20643727|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9585583|PMID:9792856 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:15923834|PMID:17343269|PMID:18391498|PMID:19373776|PMID:20643727|PMID:21876555|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:30450715|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:3393 coronary artery disease ISO RGD:1349130 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:3459 breast carcinoma exacerbates ISO RGD:1349130 D RGD:151665821|PMID:27524420 20220405 RGD 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349130 D RGD:5131599|PMID:19893041 20110504 RGD mRNA:increased expression:lung 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349130 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11248247|PMID:11854168|PMID:15099347|PMID:16251895|PMID:19952666|PMID:22995991|PMID:23527594|PMID:25741868|PMID:28492532|PMID:29304373|PMID:9259286 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:6432 pulmonary hypertension treatment IEP D RGD:38500244|PMID:25593290 20200924 RGD 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:7240710 20141015 OMIM 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome PMID:10465122|PMID:10749989|PMID:1240778|PMID:12791045|PMID:16251895|PMID:18391498|PMID:25741868|PMID:28492532 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349130 D RGD:38500244|PMID:25593290 20200924 RGD mRNA, protein:increased expression: pulmonary artery,lung: 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9002862 Craniosynostosis 3 ISO RGD:1349130 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9004771 Vascular Remodeling IEP D RGD:38500244|PMID:25593290 20200924 RGD protein:increased expression:lung 621455 Twist1 twist family bHLH transcription factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment IEP D RGD:38500244|PMID:25593290 20200924 RGD 621456 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:0111204 distal hereditary motor neuronopathy type 5A ISO RGD:1352951 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532 621456 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:7240710 20130731 OMIM 621456 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures PMID:15182361|PMID:15772097|PMID:16199547|PMID:17216302|PMID:17576681|PMID:18296573|PMID:18485777|PMID:19759001|PMID:20370816|PMID:21292558|PMID:22858719|PMID:23419474|PMID:23708187|PMID:24266778|PMID:24297574|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:26535729|PMID:27014579|PMID:27419045|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28929476|PMID:28985901|PMID:29588952|PMID:29610166|PMID:31440721|PMID:32788630|PMID:33087887|PMID:34177756|PMID:34769443|PMID:9536098 621456 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:1824 status epilepticus ISO RGD:1352951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19356691 621456 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:1826 epilepsy ISO RGD:1352951 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:26467025|PMID:28492532 621456 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:630 genetic disease ISO RGD:1352951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15182361|PMID:17216302|PMID:20370816|PMID:23419474|PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:27781031|PMID:28492532|PMID:31440721|PMID:33087887 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:0111254 glutaric acidemia I ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:3413 alpha-mannosidosis ISO RGD:1343662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:630 genetic disease ISO RGD:1343662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:7148 rheumatoid arthritis ISS RGD:733013 D RGD:13592920 20220915 MouseDO OMIM:180300 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:7240710 20220615 OMIM 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome PMID:24242851|PMID:25741868|PMID:28492532|PMID:29259162|PMID:31775019 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9002457 Experimental Arthritis ISO RGD:733013 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9002720 Splenomegaly ISO RGD:733013 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 621457 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9074 systemic lupus erythematosus ISO RGD:1343662 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 621458 Nefl neurofilament light chain gene DOID:0050328 congenital hypothyroidism IDA D RGD:9693732|PMID:18845185 20150212 RGD protein:decreased expression, increased phosphorylation 621458 Nefl neurofilament light chain gene DOID:0050433 fatal familial insomnia ISO RGD:1344238 D RGD:127285394|PMID:30048013 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1344238 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12566280|PMID:22765307|PMID:25741868|PMID:26467025|PMID:28492532 621458 Nefl neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:7240710 20190315 OMIM 621458 Nefl neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G PMID:12477167|PMID:12566280|PMID:14733962|PMID:17052987|PMID:19158810|PMID:20301384|PMID:21493625|PMID:21840889|PMID:22206013|PMID:22288874|PMID:24887401|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:32376792 621458 Nefl neurofilament light chain gene DOID:0080600 COVID-19 ISO RGD:1344238 D RGD:127284892|PMID:33743046 20210615 RGD protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:127284882|PMID:32546655 20210615 RGD protein:increased expression:plasma (human) 621458 Nefl neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:127284893|PMID:33369818 20210615 RGD associated with central neurological symptoms;protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:127285022|PMID:33377539 20210616 RGD protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:0080832 mild cognitive impairment ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:7240710 20130221 OMIM 621458 Nefl neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f PMID:12477167|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:19123978|PMID:19158810|PMID:19286384|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:21840889|PMID:2288874|PMID:23230147|PMID:24078732|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26645395|PMID:27206872|PMID:28492532|PMID:28501821|PMID:31574566|PMID:31673878|PMID:32376792 621458 Nefl neurofilament light chain gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 621458 Nefl neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:7240710 20130221 OMIM 621458 Nefl neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E PMID:10841809|PMID:11220745|PMID:12393795|PMID:12477167|PMID:12481988|PMID:12566280|PMID:14733962|PMID:15111691|PMID:15241803|PMID:16199547|PMID:16452125|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17576681|PMID:17620486|PMID:17881652|PMID:19123978|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25583183|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26392352|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:29888333|PMID:30373780|PMID:30393079|PMID:31574566|PMID:31788662|PMID:31827005|PMID:32376792|PMID:33201363|PMID:9536098 621458 Nefl neurofilament light chain gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1344238 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy 621458 Nefl neurofilament light chain gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25741868|PMID:26467025|PMID:28492532 621458 Nefl neurofilament light chain gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1344238 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:25741868 621458 Nefl neurofilament light chain gene DOID:10003 sensorineural hearing loss ISO RGD:1344238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12477167|PMID:12566280|PMID:19158810|PMID:20301384|PMID:21840889|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26645395|PMID:27206872|PMID:28492532|PMID:32376792 621458 Nefl neurofilament light chain gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344238 D RGD:1358514|PMID:14733962 20070125 RGD 621458 Nefl neurofilament light chain gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11220745|PMID:12477167|PMID:12566280|PMID:14733962|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19458545|PMID:20039262|PMID:20301384|PMID:21149811|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:23618875|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:31788662|PMID:32376792|PMID:33201363 621458 Nefl neurofilament light chain gene DOID:10652 Alzheimer's disease ISO RGD:1344238 D RGD:127284889|PMID:29368621 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:10652 Alzheimer's disease ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:11446 sciatic neuropathy IEP D RGD:9693730|PMID:3135913 20201207 RGD 621458 Nefl neurofilament light chain gene DOID:11446 sciatic neuropathy IEP D RGD:9743941|PMID:12445968 20150223 RGD 621458 Nefl neurofilament light chain gene DOID:11446 sciatic neuropathy IEP D RGD:9743948|PMID:12638730 20150223 RGD associated with Diabetes Mellitus, Type 1 621458 Nefl neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:21168446|PMID:25741868|PMID:28492532 621458 Nefl neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 621458 Nefl neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:127284880|PMID:31541342 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:127284881|PMID:30309804 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF, serum (human) 621458 Nefl neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:127284889|PMID:29368621 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:12217 Lewy body dementia ISO RGD:1344238 D RGD:127284889|PMID:29368621 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:12217 Lewy body dementia ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:12377 spinal muscular atrophy ISO RGD:1344238 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 621458 Nefl neurofilament light chain gene DOID:12894 Sjogren's syndrome ISO RGD:1344238 D RGD:127284890|PMID:32423153 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:14330 Parkinson's disease ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:1459 hypothyroidism treatment IEP D RGD:9743942|PMID:10439464 20150223 RGD 621458 Nefl neurofilament light chain gene DOID:1596 depressive disorder IEP D RGD:2299053|PMID:17683840 20080811 RGD protein:decreased expression:dentate gyrus, hippocampus CA3 621458 Nefl neurofilament light chain gene DOID:224 transient cerebral ischemia IEP D RGD:9743938|PMID:8726968 20150223 RGD protein:decreased expression:hippocampus 621458 Nefl neurofilament light chain gene DOID:2377 multiple sclerosis ISO RGD:1344238 D RGD:127285024|PMID:33317883 20210616 RGD protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344238 D RGD:127284875|PMID:31383792 20210614 RGD protein:increased expresssion:serum (human) 621458 Nefl neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:127285025|PMID:30761586 20210616 RGD associated with relapse;protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:127285027|PMID:33658322 20210616 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:3008 invasive ductal carcinoma ISO RGD:1344238 D RGD:2298999|PMID:8814452 20080808 RGD DNA:loss of heterozygosity 621458 Nefl neurofilament light chain gene DOID:3213 demyelinating disease disease_progression ISO RGD:1344238 D RGD:127284875|PMID:31383792 20210614 RGD protein:increased expresssion:serum (human) 621458 Nefl neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1344238 D RGD:13525006|PMID:26273687 20180503 RGD protein:increased expression:serum, csf 621458 Nefl neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1344238 D RGD:127284877|PMID:30309882 20210614 RGD protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552280 D RGD:13525000|PMID:10686419 20180502 RGD 621458 Nefl neurofilament light chain gene DOID:3525 middle cerebral artery infarction ISO RGD:1552280 D RGD:27226878|PMID:29967576 20201208 RGD protein:increased expression:brain 621458 Nefl neurofilament light chain gene DOID:4166 syphilis ISO RGD:1344238 D RGD:127285386|PMID:32117023 20210618 RGD associated with age;protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1344238 D RGD:127285390|PMID:30005007 20210618 RGD 621458 Nefl neurofilament light chain gene DOID:574 peripheral nervous system disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 621458 Nefl neurofilament light chain gene DOID:630 genetic disease ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11220745|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:22155564|PMID:22206013|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:25741868|PMID:25802885|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:33201363 621458 Nefl neurofilament light chain gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:1344238 D RGD:127284875|PMID:31383792 20210614 RGD protein:increased expresssion:serum (human) 621458 Nefl neurofilament light chain gene DOID:643 progressive multifocal leukoencephalopathy ISO RGD:1344238 D RGD:127284888|PMID:33903203 20210615 RGD associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:643 progressive multifocal leukoencephalopathy ISO RGD:1344238 D RGD:127285025|PMID:30761586 20210616 RGD associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:870 neuropathy ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 621458 Nefl neurofilament light chain gene DOID:8725 vascular dementia ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:8869 neuromyelitis optica ISO RGD:1344238 D RGD:127285024|PMID:33317883 20210616 RGD protein:increased expression:serum (human) 621458 Nefl neurofilament light chain gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:9698443|PMID:18772508 20150216 RGD 621458 Nefl neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1344238 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF, serum (human) 621458 Nefl neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease severity ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1344238 D RGD:127285386|PMID:32117023 20210618 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1344238 D RGD:127284889|PMID:29368621 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:9002498 Wallerian Degeneration IEP D RGD:9698439|PMID:10646539 20150216 RGD protein:decreased expression:neuron 621458 Nefl neurofilament light chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2299007|PMID:16182933 20080808 RGD protein:increased expression:cerebrospinal fluid, spinal cord 621458 Nefl neurofilament light chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:1344238 D RGD:27226816|PMID:31313506 20200527 RGD 621458 Nefl neurofilament light chain gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1344238 D RGD:127284876|PMID:30105502 20210614 RGD 621458 Nefl neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:127284876|PMID:30105502 20210614 RGD associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) 621458 Nefl neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:127284885|PMID:27400930 20210615 RGD protein:increased expression:CSF (human) 621458 Nefl neurofilament light chain gene DOID:9004484 Sepsis disease_progression ISO RGD:1344238 D RGD:27226881|PMID:30677080 20200527 RGD 621458 Nefl neurofilament light chain gene DOID:9005695 Malnutrition IEP D RGD:40902817|PMID:1908892 20201210 RGD protein:increased expression:cerebral cortex 621458 Nefl neurofilament light chain gene DOID:9007096 Stroke ISO RGD:1344238 D RGD:27226878|PMID:29967576 20200527 RGD 621458 Nefl neurofilament light chain gene DOID:9007842 Sepsis-Associated Encephalopathy disease_progression ISO RGD:1344238 D RGD:27226881|PMID:30677080 20200527 RGD 621458 Nefl neurofilament light chain gene DOID:9008305 Talipes Cavus ISO RGD:1344238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:28492532|PMID:31574566 621458 Nefl neurofilament light chain gene DOID:9255 frontotemporal dementia ISO RGD:1344238 D RGD:127285384|PMID:29391125 20210618 RGD protein:increased expression:CSF (human) 621459 Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:734417 D RGD:243048424|PMID:30529164 20230330 RGD ApoE knockout mice 621459 Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734416 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 621459 Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:630 genetic disease ISO RGD:734416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621460 Mfn1 mitofusin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731663 D RGD:11554173 20171128 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 621460 Mfn1 mitofusin 1 gene DOID:0111546 Currarino syndrome ISO RGD:731663 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 621460 Mfn1 mitofusin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731663 D RGD:7800727|PMID:19605646 20170131 RGD protein:decreased expression:hippocampus (human) 621460 Mfn1 mitofusin 1 gene DOID:11394 adult respiratory distress syndrome treatment IEP D RGD:12910765|PMID:27830717 20170623 RGD 621460 Mfn1 mitofusin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731664 D RGD:11251967|PMID:22052916 20170622 RGD with Mfn2 knockout 621460 Mfn1 mitofusin 1 gene DOID:13711 dental fluorosis IEP D RGD:12738230|PMID:23007560 20170131 RGD mRNA, protein:decreased expression:frontal cortex (rat) 621460 Mfn1 mitofusin 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:731663 D RGD:329812002|PMID:23972212 20230519 RGD protein:decreased expression:vastus lateralis 621460 Mfn1 mitofusin 1 gene DOID:1596 depressive disorder treatment ISO RGD:731664 D RGD:13204844|PMID:22244747 20170721 RGD 621460 Mfn1 mitofusin 1 gene DOID:1824 status epilepticus IEP D RGD:12436727|PMID:27045873 20170626 RGD mRNA:decreased expression:hippocampus (rat) 621460 Mfn1 mitofusin 1 gene DOID:3021 acute kidney failure IEP D RGD:12910862|PMID:26480480 20170627 RGD protein:decreased expression:kidney (rat) 621460 Mfn1 mitofusin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731663 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 621460 Mfn1 mitofusin 1 gene DOID:4483 rhinitis IEP D RGD:13204839|PMID:28146064 20170721 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) 621460 Mfn1 mitofusin 1 gene DOID:630 genetic disease ISO RGD:731663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621460 Mfn1 mitofusin 1 gene DOID:6364 migraine IEP D RGD:12910755|PMID:27984195 20170623 RGD protein:decreased expression:trigeminal ganglion (rat) 621460 Mfn1 mitofusin 1 gene DOID:6432 pulmonary hypertension IEP D RGD:12910832|PMID:27422986 20170626 RGD protein:decreased expression:heart right ventricle (rat) 621460 Mfn1 mitofusin 1 gene DOID:6457 Cowden syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 621460 Mfn1 mitofusin 1 gene DOID:784 chronic kidney disease treatment IEP D RGD:12738369|PMID:27801955 20170201 RGD 621460 Mfn1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:12910837|PMID:26981103 20170626 RGD protein:altered expression:spinal cord, mitochondrion (rat) 621460 Mfn1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12437066|PMID:26079325 20170718 RGD 621460 Mfn1 mitofusin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:731664 D RGD:12910714|PMID:28503736 20170621 RGD 621460 Mfn1 mitofusin 1 gene DOID:9004610 Acute Lung Injury IEP D RGD:12437080|PMID:25560372 20170718 RGD mRNA, protein:altered expression:lung (rat) 621460 Mfn1 mitofusin 1 gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:12910831|PMID:27491814 20170626 RGD 621460 Mfn1 mitofusin 1 gene DOID:9009105 HIV Encephalitis ISO RGD:731663 D RGD:12910851|PMID:26611103 20170627 RGD associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) 621460 Mfn1 mitofusin 1 gene DOID:9009106 Acute Heart Injury IEP D RGD:12437078|PMID:25677476 20170718 RGD mRNA, protein:increased expression:heart (rat) 621461 Ngb neuroglobin gene DOID:10652 Alzheimer's disease treatment IEP D RGD:9743955|PMID:23428737 20150223 RGD 621461 Ngb neuroglobin gene DOID:12510 retinal ischemia IEP D RGD:9854634|PMID:22553688 20150407 RGD associated with Ocular Hypertension;protein:increased expression:retina 621461 Ngb neuroglobin gene DOID:224 transient cerebral ischemia IEP D RGD:9743952|PMID:16647691 20150223 RGD associated with Hypertension;mRNA, protein:decreased expression:brain 621461 Ngb neuroglobin gene DOID:224 transient cerebral ischemia IMP D RGD:9743964|PMID:12621155 20150224 RGD 621461 Ngb neuroglobin gene DOID:224 transient cerebral ischemia treatment IEP D RGD:9743965|PMID:23342777 20150224 RGD 621461 Ngb neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:1553611 D RGD:9743964|PMID:12621155 20150224 RGD 621461 Ngb neuroglobin gene DOID:630 genetic disease ISO RGD:1352460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621461 Ngb neuroglobin gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:9743950|PMID:24281943 20150223 RGD protein:increased expression:cerebral cortex 621461 Ngb neuroglobin gene DOID:9000998 Brain Injuries severity IEP D RGD:9743963|PMID:21915648 20150224 RGD 621461 Ngb neuroglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1352460 D RGD:11554173 20200324 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 621461 Ngb neuroglobin gene DOID:9007980 Sleep Deprivation IEP D RGD:9743966|PMID:23262504 20150224 RGD protein:decreased expression:brain 621461 Ngb neuroglobin gene DOID:9588 encephalitis IEP D RGD:9743961|PMID:19842562 20150224 RGD protein:increased expression:cerebrospinal fluid, frontal cortex, serum 621462 Macroh2a1 macroH2A.1 histone gene DOID:0050908 myelodysplastic syndrome ISS RGD:736206 D RGD:13592920 20210812 MouseDO OMIM:614286 621462 Macroh2a1 macroH2A.1 histone gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621462 Macroh2a1 macroH2A.1 histone gene DOID:630 genetic disease ISO RGD:731902 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621462 Macroh2a1 macroH2A.1 histone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731902 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621462 Macroh2a1 macroH2A.1 histone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 621462 Macroh2a1 macroH2A.1 histone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621463 Wnt11 Wnt family member 11 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1344477 D RGD:150530486|PMID:21393552 20211213 RGD DNA:SNP:exon: A>G (rs1533767) (human) 621463 Wnt11 Wnt family member 11 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1344477 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 621463 Wnt11 Wnt family member 11 gene DOID:1059 intellectual disability ISO RGD:1344477 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621463 Wnt11 Wnt family member 11 gene DOID:10892 hypospadias ISO RGD:1344477 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 621463 Wnt11 Wnt family member 11 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1344477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 621463 Wnt11 Wnt family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1344477 D RGD:2299947|PMID:11712081 20080821 RGD 621463 Wnt11 Wnt family member 11 gene DOID:630 genetic disease ISO RGD:1344477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621463 Wnt11 Wnt family member 11 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1344477 D RGD:2299946|PMID:15520198 20080821 RGD 621463 Wnt11 Wnt family member 11 gene DOID:9006205 Animal Disease Models ISO RGD:1344477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 621463 Wnt11 Wnt family member 11 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1344477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 621465 Ica1 islet cell autoantigen 1 gene DOID:630 genetic disease ISO RGD:733652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621465 Ica1 islet cell autoantigen 1 gene DOID:9351 diabetes mellitus IDA D RGD:633043|PMID:7918678 20090720 RGD 621465 Ica1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:2311486|PMID:14679103 20090720 RGD mRNA, protein:decreased expression:thymus gland 621465 Ica1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:2311487|PMID:11751995 20090720 RGD 621465 Ica1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:733652 D RGD:2311488|PMID:8647206 20090720 RGD 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency IMP D RGD:2316325|PMID:20111598 20201210 RGD 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:7240710 20190306 OMIM 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:10444186|PMID:10784449|PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:11213805|PMID:11260071|PMID:11874464|PMID:11961146|PMID:12070011|PMID:12126929|PMID:14722921|PMID:14966353|PMID:16199547|PMID:16227049|PMID:16293754|PMID:16760466|PMID:17576681|PMID:17598841|PMID:18615703|PMID:18641513|PMID:18728247|PMID:18941169|PMID:19398866|PMID:20301584|PMID:21184155|PMID:21732012|PMID:21865537|PMID:22039266|PMID:23374275|PMID:23683512|PMID:24534054|PMID:24612091|PMID:25042067|PMID:25326637|PMID:25741868|PMID:25843602|PMID:25869287|PMID:26525228|PMID:26547715|PMID:27484032|PMID:27566612|PMID:28109013|PMID:28359783|PMID:28492532|PMID:28747913|PMID:29658452|PMID:2984567|PMID:29948574|PMID:30622570|PMID:30778380|PMID:30850927|PMID:31024866|PMID:31799703|PMID:31965297|PMID:32265911|PMID:32499645|PMID:32888943|PMID:33412294|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7860773|PMID:7883965|PMID:7973658|PMID:8027558|PMID:8088810|PMID:8298124|PMID:8299698|PMID:8401490|PMID:8462096|PMID:8522327|PMID:8541866|PMID:8557662|PMID:8605324|PMID:8712778|PMID:8781427|PMID:8900089|PMID:8961626|PMID:9049783|PMID:9058718|PMID:9150730|PMID:9150740|PMID:9399950|PMID:9536098|PMID:9633906|PMID:9885222 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731533 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:0080600 COVID-19 severity ISO RGD:731533 D RGD:32716368|PMID:32297828 20200625 RGD protein:increased expression:serum (human) 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:12849 autistic disorder ISO RGD:731533 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:627 severe combined immunodeficiency ISO RGD:731533 D RGD:1600009|PMID:7557965 20070223 RGD X-linked SCID, OMIM:300400 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency IMP D RGD:2316325|PMID:20111598 20170327 RGD 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:7240710 20130221 OMIM 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency, X-linked PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:12126929|PMID:14966353|PMID:16199547|PMID:16227049|PMID:18641513|PMID:20301584|PMID:21184155|PMID:22039266|PMID:23683512|PMID:24534054|PMID:25042067|PMID:25741868|PMID:25869287|PMID:28492532|PMID:28747913|PMID:29948574|PMID:30622570|PMID:30778380|PMID:31799703|PMID:31965297|PMID:32499645|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7883965|PMID:7973658|PMID:8088810|PMID:9049783|PMID:9058718|PMID:9399950|PMID:9633906 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:630 genetic disease ISO RGD:731533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10794431|PMID:16227049|PMID:20301584|PMID:23683512|PMID:25042067|PMID:25741868|PMID:28492532|PMID:29948574|PMID:31965297|PMID:7557965|PMID:7668284|PMID:9399950 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:8541 Sezary's disease ISO RGD:731533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:9004654 Immune Deficiency Disease IMP D RGD:13628403|PMID:29688994 20180620 RGD 621466 Il2rg interleukin 2 receptor subunit gamma gene DOID:9007898 FG Syndrome 1 ISO RGD:731533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 621468 Commd5 COMM domain containing 5 gene DOID:630 genetic disease ISO RGD:1348607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621469 Adam3a ADAM metallopeptidase domain 3A gene DOID:0060108 brain glioma ISO RGD:1350597 D RGD:13831351|PMID:21138945 20190107 RGD DNA:deletion 621469 Adam3a ADAM metallopeptidase domain 3A gene DOID:1748 conjunctival squamous cell carcinoma ISO RGD:1350597 D RGD:13831354|PMID:25491297 20190107 RGD DNA, mRNA:amplification, increase expression 621469 Adam3a ADAM metallopeptidase domain 3A gene DOID:9005369 Hepatomegaly ISO RGD:1350597 D RGD:11554173 20190108 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19409519|PMID:25741868|PMID:28492532 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0080600 COVID-19 ISO RGD:1321127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:12354473 D RGD:9068941 20210604 OMIA Cone-rod dystrophy 3 PMID:20691256|PMID:20806078|PMID:22065099 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:7240710 20130221 OMIM 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:11581183|PMID:17576681|PMID:19409519|PMID:25091951|PMID:25741868|PMID:28492532|PMID:9536098 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26261414|PMID:28492532|PMID:31456290 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:10652 Alzheimer's disease IEP D RGD:13703037|PMID:24792732 20180726 RGD protein:decreased expression:hippocampus 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:1793 pancreatic cancer ISO RGD:1321127 D RGD:2325247|PMID:17465204 20100527 RGD mRNA:increased expression:pancreas, epithelial cell 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:1824 status epilepticus IEP D RGD:1559151|PMID:15950787 20100527 RGD mRNA:increased expression:dentate gyrus 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1321127 D RGD:2325249|PMID:14997207 20100527 RGD protein:altered localization:cytoplasm 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:607 paraplegia ISO RGD:1321127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:630 genetic disease ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1321127 D RGD:2325246|PMID:19473694 20100527 RGD protein:increased expression:uterine cervix 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17018608 621473 Adam9 ADAM metallopeptidase domain 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1321127 D RGD:2325246|PMID:19473694 20100527 RGD protein:increased expression:uterine cervix 621475 Il11 interleukin 11 gene DOID:1679 cystitis ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17980069 621475 Il11 interleukin 11 gene DOID:3525 middle cerebral artery infarction ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 621475 Il11 interleukin 11 gene DOID:409 liver disease ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16964402 621475 Il11 interleukin 11 gene DOID:630 genetic disease ISO RGD:736550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621475 Il11 interleukin 11 gene DOID:9000197 Edema ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17980069 621475 Il11 interleukin 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 621475 Il11 interleukin 11 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736550 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30374069|PMID:30664745 621475 Il11 interleukin 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11421492 621475 Il11 interleukin 11 gene DOID:9008217 Hemorrhage ISO RGD:736550 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17980069 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111575 dehydrated hereditary stomatocytosis ISO RGD:732698 D RGD:11554173 20190305 CTD CTD Direct Evidence: marker/mechanism 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:732698 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema PMID:25741868 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:7240710 20170308 OMIM 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 PMID:25741868|PMID:26148990|PMID:26178367|PMID:26198474|PMID:28492532|PMID:4851153|PMID:6473461|PMID:652816|PMID:687829 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:5419 schizophrenia ISO RGD:732698 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:630 genetic disease ISO RGD:732698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:732699 D RGD:150521609|PMID:25131209 20211111 RGD 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9004927 Stomatocytosis II ISO RGD:732698 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:25741868 621476 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10412030|PMID:24589593 20151111 RGD mRNA, protein:increased expression:aorta, smooth muscle 621478 Pllp plasmolipin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621478 Pllp plasmolipin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621478 Pllp plasmolipin gene DOID:1790 malignant mesothelioma ISO RGD:736785 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 621478 Pllp plasmolipin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621478 Pllp plasmolipin gene DOID:5419 schizophrenia ISO RGD:736785 D RGD:9068941 20200609 RGD PMID:15334603|REF_RGD_ID:1358792 621478 Pllp plasmolipin gene DOID:630 genetic disease ISO RGD:736785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621479 Stau2 staufen double-stranded RNA binding protein 2 gene DOID:10629 microphthalmia IMP D RGD:10043154|PMID:22940085 20150515 RGD 621479 Stau2 staufen double-stranded RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1351558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621479 Stau2 staufen double-stranded RNA binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0060236 xanthinuria ISO RGD:737503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: XDH deficiency 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:737503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer ISO RGD:737503 D RGD:2302560|PMID:12949937 20081230 RGD mRNA:decreased expression:prostate gland 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:737503 D RGD:4891929|PMID:10501358 20110121 RGD DNA:missense mutation:cds:p.A49T (human) 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:10892 hypospadias susceptibility ISO RGD:737503 D RGD:1600059|PMID:10514539 20070226 RGD protein:missense mutations:cds:p.R227Q, p.F186L (human) 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:737503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20823678 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:12700 hyperprolactinemia IEP D RGD:4891877|PMID:18379994 20110119 RGD mRNA:increased expression:prostate (rat) 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:1924 hypogonadism ISO RGD:737503 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868|PMID:28492532 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:289 endometriosis ISO RGD:737503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21232532 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:3459 breast carcinoma ISO RGD:737503 D RGD:2302558|PMID:15212687 20081230 RGD mRNA:increased expression:breast 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:630 genetic disease ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7554313 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:7240710 20130221 OMIM 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:10501358|PMID:10718838|PMID:10898110|PMID:10999800|PMID:11869378|PMID:12576851|PMID:12699446|PMID:12843198|PMID:1406794|PMID:14560315|PMID:14594182|PMID:15064320|PMID:1522235|PMID:15266301|PMID:15528927|PMID:15770495|PMID:18097518|PMID:18314109|PMID:18384427|PMID:18391525|PMID:18469342|PMID:18717241|PMID:19342739|PMID:1944596|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:20736251|PMID:21147889|PMID:21402750|PMID:2154055|PMID:21540559|PMID:21631525|PMID:22272144|PMID:22453073|PMID:22876553|PMID:23329752|PMID:24665940|PMID:24737579|PMID:25248670|PMID:25605705|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27070133|PMID:27854360|PMID:27899157|PMID:28110336|PMID:28492532|PMID:28544750|PMID:28663096|PMID:30132287|PMID:31186340|PMID:32346305|PMID:32371413|PMID:32713132|PMID:33516834|PMID:33742552|PMID:431680|PMID:7554313|PMID:7608269|PMID:8110760|PMID:8262007|PMID:835597|PMID:8626825|PMID:8706317|PMID:8723114|PMID:8768837|PMID:9066886|PMID:9135696|PMID:9208814|PMID:9467575|PMID:9745434|PMID:9843052 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16998812|PMID:17136762|PMID:17823934|PMID:18306354|PMID:18500220 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737503 D RGD:1331525|PMID:15118671 19990101 GAD 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9003503 Penis Agenesis ISO RGD:737503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Micropenis PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:32713132 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9004466 Xanthinuria, Type II ISO RGD:737503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:18384427|PMID:28492532 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:737503 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9351 diabetes mellitus IEP D RGD:1600067|PMID:12749121 20070227 RGD 621480 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:987 alopecia ISO RGD:737503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17136762 621481 Sirt2 sirtuin 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IDA D RGD:9586049|PMID:22327056 20140925 RGD associated with Obesity 621481 Sirt2 sirtuin 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621481 Sirt2 sirtuin 2 gene DOID:3070 high grade glioma treatment IMP D RGD:9586035|PMID:23522375 20140925 RGD 621481 Sirt2 sirtuin 2 gene DOID:3669 intermittent claudication IEP D RGD:9586024|PMID:23658678 20140924 RGD associated with Spinal Stenosis;protein:decreased expression:dorsal horn of spinal cord, ventral horn of spinal cord 621481 Sirt2 sirtuin 2 gene DOID:630 genetic disease ISO RGD:733995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621481 Sirt2 sirtuin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:0080600 COVID-19 ISO RGD:1342579 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:7240710 20150701 OMIM 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 19 multiple types PMID:11917274|PMID:18596884|PMID:21386927|PMID:25741868|PMID:28492532|PMID:32202185|PMID:33078099 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:630 genetic disease ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:83 cataract ISO RGD:1342579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11917274 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:83 cataract ISO RGD:1342579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cortical pulverulent cataract PMID:28492532|PMID:32202185|PMID:33078099 621482 Lim2 lens intrinsic membrane protein 2 gene DOID:83 cataract onset ISO RGD:1342579 D RGD:1600309|PMID:11917274 20070307 RGD DNA:missense mutation:cds: p.F105V (human) 621484 Il24 interleukin 24 gene DOID:0050589 inflammatory bowel disease ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 621484 Il24 interleukin 24 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 621484 Il24 interleukin 24 gene DOID:12849 autistic disorder ISO RGD:1605405 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621484 Il24 interleukin 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1605405 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621484 Il24 interleukin 24 gene DOID:1793 pancreatic cancer ISO RGD:1605405 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15580305 621484 Il24 interleukin 24 gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20110804 RGD mRNA:increased expression:lymph node, T cell 621484 Il24 interleukin 24 gene DOID:630 genetic disease ISO RGD:1605405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621484 Il24 interleukin 24 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605405 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14678967|PMID:21671747 621484 Il24 interleukin 24 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 621484 Il24 interleukin 24 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 621484 Il24 interleukin 24 gene DOID:9005172 Lung Neoplasms ISO RGD:1605405 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12830052|PMID:15713900 621484 Il24 interleukin 24 gene DOID:9007417 Pseudomonas Infections ISO RGD:1605405 D RGD:5147421|PMID:19399182 20110804 RGD associated with Cystic Fibrosis 621484 Il24 interleukin 24 gene DOID:9008939 Breast Neoplasms ISO RGD:1605405 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16298037|PMID:21671747 621484 Il24 interleukin 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605405 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621485 Rnf138 ring finger protein 138 gene DOID:0080600 COVID-19 ISO RGD:1605080 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621485 Rnf138 ring finger protein 138 gene DOID:1059 intellectual disability ISO RGD:1605080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 621485 Rnf138 ring finger protein 138 gene DOID:630 genetic disease ISO RGD:1605080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621486 Sdc3 syndecan 3 gene DOID:630 genetic disease ISO RGD:1343030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621486 Sdc3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:7240710 20130221 OMIM 621486 Sdc3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Obesity, association with PMID:17018662 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:7240710 20140911 OMIM 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY PMID:18414213|PMID:21937992|PMID:22633631|PMID:24084144|PMID:25741868|PMID:26757139|PMID:28492532|PMID:34474177 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:1059 intellectual disability ISO RGD:1353856 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:10907 microcephaly ISO RGD:1353856 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353856 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1353856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 621487 Taf2 TATA-box binding protein associated factor 2 gene DOID:630 genetic disease ISO RGD:1353856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621488 Camkv CaM kinase-like vesicle-associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 621488 Camkv CaM kinase-like vesicle-associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 621488 Camkv CaM kinase-like vesicle-associated gene DOID:630 genetic disease ISO RGD:1604302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621488 Camkv CaM kinase-like vesicle-associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1604302 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 621488 Camkv CaM kinase-like vesicle-associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621489 Mef2d myocyte enhancer factor 2D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 621489 Mef2d myocyte enhancer factor 2D gene DOID:0111940 immunodeficiency 42 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621489 Mef2d myocyte enhancer factor 2D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621489 Mef2d myocyte enhancer factor 2D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 621489 Mef2d myocyte enhancer factor 2D gene DOID:12783 migraine without aura ISO RGD:733415 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 621489 Mef2d myocyte enhancer factor 2D gene DOID:1324 lung cancer treatment ISO RGD:733415 D RGD:151361106|PMID:25472877 20220223 RGD human cells in mouse model 621489 Mef2d myocyte enhancer factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:733415 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621489 Mef2d myocyte enhancer factor 2D gene DOID:5812 MHC class II deficiency ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621489 Mef2d myocyte enhancer factor 2D gene DOID:630 genetic disease ISO RGD:733415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621489 Mef2d myocyte enhancer factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733415 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621490 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:299 adenocarcinoma ISO RGD:736863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 621490 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736863 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 621490 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:630 genetic disease ISO RGD:736863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621490 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:736863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 621491 Basp1 brain abundant, membrane attached signal protein 1 gene DOID:305 carcinoma ISO RGD:1347703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621491 Basp1 brain abundant, membrane attached signal protein 1 gene DOID:630 genetic disease ISO RGD:1347703 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621491 Basp1 brain abundant, membrane attached signal protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621491 Basp1 brain abundant, membrane attached signal protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347703 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621491 Basp1 brain abundant, membrane attached signal protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347703 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621493 Gale UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:7240710 20191106 OMIM 621493 Gale UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:10086948|PMID:11117433|PMID:11279193|PMID:15639193|PMID:16199547|PMID:16301867|PMID:16302980|PMID:16385452|PMID:17576681|PMID:18188677|PMID:19250319|PMID:21703329|PMID:23430501|PMID:23644136|PMID:23732289|PMID:24033266|PMID:24578239|PMID:25150110|PMID:25741868|PMID:26565537|PMID:27604308|PMID:28173647|PMID:28247339|PMID:28492532|PMID:30247636|PMID:33510604|PMID:6408303|PMID:7305435|PMID:9326324|PMID:9536098|PMID:9538513|PMID:9973283 621493 Gale UDP-galactose-4-epimerase gene DOID:630 genetic disease ISO RGD:733015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10086948|PMID:11117433|PMID:11279193|PMID:18188677|PMID:23644136|PMID:23732289|PMID:25741868|PMID:27604308|PMID:28247339|PMID:28492532|PMID:6408303|PMID:7305435|PMID:9973283 621493 Gale UDP-galactose-4-epimerase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 621493 Gale UDP-galactose-4-epimerase gene DOID:9870 galactosemia ISO RGD:733015 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 621494 Nrtn neurturin gene DOID:10487 Hirschsprung's disease ISO RGD:731950 D RGD:1600267|PMID:9700200 20070306 RGD 621494 Nrtn neurturin gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:7349377|PMID:14507865 20130923 RGD 621494 Nrtn neurturin gene DOID:630 genetic disease ISO RGD:731950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621495 F13a1 coagulation factor XIII A1 chain gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:732286 D RGD:11041855|PMID:16894461 20160330 RGD protein:increased expression:B lymphoblast: 621495 F13a1 coagulation factor XIII A1 chain gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 621495 F13a1 coagulation factor XIII A1 chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:7240710 20200729 OMIM 621495 F13a1 coagulation factor XIII A1 chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:22995991|PMID:9531026 621495 F13a1 coagulation factor XIII A1 chain gene DOID:10808 gastric ulcer IEP D RGD:708325|PMID:11435721 20160120 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:732286 D RGD:1581020|PMID:16642548 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:10450726|PMID:21512576 20160120 RGD DNA:nonsense mutation:intron: 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:10450727|PMID:19438481 20160120 RGD DNA:mutation:cds:p.R703W(human) 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:10450729|PMID:20179087 20160120 RGD DNA:nonsense mutations, missense mutations:cds: 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:10450730|PMID:19937244 20160120 RGD DNA:insertion, missense mutation:cds: 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:11041869|PMID:23508224 20160330 RGD DNA:polymorphism:intron:IVS1+12C>A(human) 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1644910 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:31136071 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2213 hemorrhagic disease ISO RGD:732286 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2349 arteriosclerosis ISO RGD:732286 D RGD:1581023|PMID:11941274 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:2452 thrombophilia ISO RGD:732286 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 621495 F13a1 coagulation factor XIII A1 chain gene DOID:3042 allergic contact dermatitis ISO RGD:732286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 621495 F13a1 coagulation factor XIII A1 chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17393027 621495 F13a1 coagulation factor XIII A1 chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:1581022|PMID:12480694 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:7240710 20230505 OMIM 621495 F13a1 coagulation factor XIII A1 chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myocardial infarction, protection against PMID:10365735|PMID:10910914|PMID:12072871|PMID:12456499|PMID:17393027|PMID:25741868|PMID:8025280|PMID:9459313|PMID:9550516 621495 F13a1 coagulation factor XIII A1 chain gene DOID:630 genetic disease ISO RGD:732286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621495 F13a1 coagulation factor XIII A1 chain gene DOID:8778 Crohn's disease ISO RGD:732286 D RGD:10450739|PMID:7611208 20160120 RGD associated with Fistula;protein:decreased activity:plasma: 621495 F13a1 coagulation factor XIII A1 chain gene DOID:8947 diabetic retinopathy ISO RGD:732286 D RGD:8693344|PMID:11375345 20140711 RGD protein:increased expression:optic choroid vascular plexus: 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9000528 Coronary Disease ISO RGD:732286 D RGD:1581030|PMID:11391716 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732286 D RGD:1581027|PMID:9550516 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1550288 D RGD:10450744|PMID:12933578 20160120 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10365735 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:1581032|PMID:9920839 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:732286 D RGD:10450745|PMID:12358922 20160120 RGD DNA:polymorphism:cds:p.V34L(human) 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:11041811|PMID:8025280 20160329 RGD DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human) 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:11041856|PMID:24118344 20160330 RGD DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA) 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:7240710 20131030 OMIM 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of PMID:10027709|PMID:10365735|PMID:10910914|PMID:11167856|PMID:11380452|PMID:11692020|PMID:12072871|PMID:12100162|PMID:12456499|PMID:12801297|PMID:1353995|PMID:14695539|PMID:16543965|PMID:16763156|PMID:17393027|PMID:17549292|PMID:17880458|PMID:19438481|PMID:20179087|PMID:21512576|PMID:21633364|PMID:21812861|PMID:22995991|PMID:24118344|PMID:24194833|PMID:25741868|PMID:26503545|PMID:26852661|PMID:28492532|PMID:28520207|PMID:31064749|PMID:33114181|PMID:7236530|PMID:7727776|PMID:7918041|PMID:8025280|PMID:8130686|PMID:8547636|PMID:8584988|PMID:9459313|PMID:9531026|PMID:9531593|PMID:9550516|PMID:9657440|PMID:9712293|PMID:9827915|PMID:9920838 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9006889 Uterine Hemorrhage ISO RGD:1550288 D RGD:10450744|PMID:12933578 20160120 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9007096 Stroke ISO RGD:732286 D RGD:1581026|PMID:11692020 19990101 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550288 D RGD:11041813|PMID:22019897 20160329 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9008217 Hemorrhage ISO RGD:1550288 D RGD:11041809|PMID:12529747 20160329 RGD 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9286 priapism susceptibility ISO RGD:732286 D RGD:10450728|PMID:17408468 20160120 RGD associated with sickle cell anemia;DNA:SNPs::multiple(human) 621495 F13a1 coagulation factor XIII A1 chain gene DOID:9477 pulmonary embolism ISO RGD:732286 D RGD:1581021|PMID:12958612 19990101 RGD 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:0080074 neural tube defect ISO RGD:1346951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17035141 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1346951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346951 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:893 Wilson disease ISO RGD:1346951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346951 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 621496 Bhmt betaine-homocysteine S-methyltransferase gene DOID:9667 placental abruption ISO RGD:1346951 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17376725 621497 Sdcbp syndecan binding protein gene DOID:630 genetic disease ISO RGD:1343667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621497 Sdcbp syndecan binding protein gene DOID:8398 osteoarthritis ISO RGD:1343667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621498 Cdc25a cell division cycle 25A gene DOID:0050770 polycystic liver disease ISO RGD:731492 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 621498 Cdc25a cell division cycle 25A gene DOID:0050770 polycystic liver disease treatment ISO RGD:731493 D RGD:14700990|PMID:22155366 20190903 RGD 621498 Cdc25a cell division cycle 25A gene DOID:0080600 COVID-19 ISO RGD:731492 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621498 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:14700990|PMID:22155366 20190903 RGD protein:increased expression:cholangiocyte: 621498 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731492 D RGD:14700990|PMID:22155366 20190903 RGD protein:increased expression:cholangiocyte: 621498 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731493 D RGD:14700990|PMID:22155366 20190903 RGD protein:increased expression:cholangiocyte: 621498 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease treatment IMP D RGD:14700990|PMID:22155366 20190903 RGD 621498 Cdc25a cell division cycle 25A gene DOID:10283 prostate cancer ISO RGD:731492 D RGD:2743964|PMID:18974148 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:11054 urinary bladder cancer ISO RGD:731492 D RGD:2715645|PMID:17145867 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:2101 vulva squamous cell carcinoma ISO RGD:731492 D RGD:2729590|PMID:20500813 20100702 RGD protein:increased expression:vulva 621498 Cdc25a cell division cycle 25A gene DOID:3459 breast carcinoma disease_progression ISO RGD:731492 D RGD:2734052|PMID:19555767 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:4362 cervical cancer ISO RGD:731492 D RGD:2296067|PMID:18299147 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:630 genetic disease ISO RGD:731492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621498 Cdc25a cell division cycle 25A gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731492 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease 621498 Cdc25a cell division cycle 25A gene DOID:9002221 Hyperplasia ISO RGD:731492 D RGD:2764000|PMID:17283130 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 621498 Cdc25a cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731492 D RGD:2764000|PMID:17283130 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731493 D RGD:2754551|PMID:17638870 20100702 RGD 621498 Cdc25a cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731493 D RGD:2771824|PMID:16951165 20100702 RGD 621500 Cdc25b cell division cycle 25B gene DOID:0080365 endometrial hyperplasia ISO RGD:1604653 D RGD:4105451|PMID:14559803 20100706 RGD protein:increased expression:endometrium 621500 Cdc25b cell division cycle 25B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604653 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 621500 Cdc25b cell division cycle 25B gene DOID:10283 prostate cancer ISO RGD:1604653 D RGD:4105454|PMID:12569365 20100706 RGD protein:increased expression:prostate gland 621500 Cdc25b cell division cycle 25B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604653 D RGD:2739695|PMID:19383904 20100702 RGD 621500 Cdc25b cell division cycle 25B gene DOID:1380 endometrial cancer ISO RGD:1604653 D RGD:4105451|PMID:14559803 20100706 RGD 621500 Cdc25b cell division cycle 25B gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1604653 D RGD:2729590|PMID:20500813 20100702 RGD protein:increased expression:vulva 621500 Cdc25b cell division cycle 25B gene DOID:3459 breast carcinoma disease_progression ISO RGD:1604653 D RGD:4105449|PMID:15550849 20100706 RGD 621500 Cdc25b cell division cycle 25B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 621500 Cdc25b cell division cycle 25B gene DOID:630 genetic disease ISO RGD:1604653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621500 Cdc25b cell division cycle 25B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1604653 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 621500 Cdc25b cell division cycle 25B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 621500 Cdc25b cell division cycle 25B gene DOID:9775 diastolic heart failure ISO RGD:1604653 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 621501 Ctrl chymotrypsin-like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621501 Ctrl chymotrypsin-like gene DOID:2843 long QT syndrome ISO RGD:1346038 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 621501 Ctrl chymotrypsin-like gene DOID:630 genetic disease ISO RGD:1346038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621502 Ssbp3 single stranded DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:731988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621502 Ssbp3 single stranded DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731988 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621502 Ssbp3 single stranded DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:731988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050451 Brugada syndrome ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:27871843|PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050650 familial atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:34398675|PMID:9536098 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353354 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:14661677|PMID:14678125|PMID:16556865|PMID:17161064|PMID:17210839|PMID:17470695|PMID:19841300|PMID:19862833|PMID:21185501|PMID:22581653|PMID:22677073|PMID:22949429|PMID:23571586|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050793 short QT syndrome ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11278406|PMID:15051636|PMID:15159330|PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:20436212|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:34398675|PMID:9536098 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1353354 D RGD:1580507|PMID:12522251 19990101 RGD 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:12522251|PMID:15368194|PMID:16109388|PMID:17467630|PMID:17997361|PMID:17999538|PMID:18599533|PMID:19632626|PMID:20421371|PMID:21224508|PMID:22250012|PMID:22508963|PMID:22581653|PMID:23375927|PMID:24006450|PMID:24818999|PMID:25444851|PMID:25974115|PMID:28383569|PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0070297 primary microcephaly ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080600 COVID-19 ISO RGD:1353354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18596570|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25634836|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30291343|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32048431|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1353354 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10477533|PMID:10973849|PMID:17576681|PMID:19716085|PMID:21810471|PMID:22629021|PMID:25741868|PMID:27485560|PMID:28492532|PMID:29255176|PMID:29857160|PMID:31589614|PMID:31737537|PMID:9536098|PMID:9570196|PMID:9654228 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:25326637|PMID:25741868|PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10763 hypertension IAGP D RGD:1581602|PMID:16368876 20110617 RGD DNA:deletion:exon (rat) 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10907 microcephaly ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:23396983|PMID:24033266|PMID:24055113|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28794082|PMID:29197658|PMID:30571187 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14323 Marfan syndrome ISO RGD:1353354 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:21459285|PMID:22581653|PMID:25741868 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353354 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:1580508|PMID:12051962 19990101 RGD 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:7240710 20230517 OMIM 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:10024302|PMID:10077519|PMID:10090886|PMID:10367071|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20044973|PMID:20167303|PMID:20226272|PMID:20348026|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27920829|PMID:28212739|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29097701|PMID:29197658|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30122538|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome IAGP D RGD:1581602|PMID:16368876 20200124 RGD DNA:deletion:exon (rat) 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10868744|PMID:14510655|PMID:15028050|PMID:17467628|PMID:18329740|PMID:20513597|PMID:22910039 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:1580502|PMID:15840476 19990101 RGD 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23728945|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25494010|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30079003|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20975234|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28166811|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:35535697|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35535697|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome severity ISO RGD:1353354 D RGD:7247613|PMID:22199116 20130718 RGD DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human) 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:299 adenocarcinoma ISO RGD:1353354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:12388934|PMID:15840476|PMID:17470695|PMID:19490272|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:23631430|PMID:24033266|PMID:24190995|PMID:25637381|PMID:25705178|PMID:25741868|PMID:25985138|PMID:26159999|PMID:27041096|PMID:28492532|PMID:28739325|PMID:28988457|PMID:29167462|PMID:29197658|PMID:30615648|PMID:31737537|PMID:32048431|PMID:32233023|PMID:34398675|PMID:9799083 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:4440 seminoma ISO RGD:1353354 D RGD:1580497|PMID:15389592 20130425 RGD 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10704188|PMID:10973849|PMID:11530100|PMID:11997281|PMID:12566525|PMID:14510661|PMID:14678125|PMID:14760488|PMID:15051636|PMID:15840476|PMID:15935335|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22629021|PMID:23174487|PMID:23392653|PMID:24033266|PMID:24055113|PMID:24190995|PMID:24357532|PMID:24606995|PMID:24912595|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25854863|PMID:26077850|PMID:26318259|PMID:26669661|PMID:27159321|PMID:27650965|PMID:27884173|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28944242|PMID:29197658|PMID:31696929 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant KCNQ1-related disease | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10024302|PMID:10367071|PMID:10477533|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11530100|PMID:11668638|PMID:11997281|PMID:12051962|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:1346223|PMID:14510661|PMID:1467812|PMID:14678125|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15935335|PMID:16199547|PMID:16414944|PMID:16556866|PMID:16818214|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18426444|PMID:18452873|PMID:18752142|PMID:19124472|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21779290|PMID:21810471|PMID:21956039|PMID:22199116|PMID:22293141|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23174487|PMID:23251633|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24861447|PMID:24912595|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25294783|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:26077850|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26546361|PMID:26669661|PMID:26743238|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27470144|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27920829|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28606196|PMID:28704380|PMID:28944242|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29677589|PMID:29740400|PMID:29857160|PMID:29876285|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9570196|PMID:9654228|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12702160|PMID:15840476|PMID:16414944|PMID:19862833|PMID:22581653|PMID:24033266|PMID:24388587|PMID:25441029|PMID:25741868|PMID:26669661|PMID:28364778|PMID:28492532|PMID:29097701|PMID:29197658|PMID:9323054 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:8488 polyhydramnios ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28532774|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30302399|PMID:30311386|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30935642|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31696929 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32917565|PMID:34333030|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21270786|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25974703|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34930020|PMID:35442947|PMID:36102233|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000156 Metaplasia IAGP D RGD:2317967|PMID:18587108 20100503 RGD associated with Stomach Diseases 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353354 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:14661677|PMID:15913580|PMID:17210839|PMID:18752142|PMID:19646991|PMID:19841300|PMID:22818067|PMID:22947121|PMID:24033266|PMID:24687331|PMID:25741868|PMID:28438721|PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11278406|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25974115|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26168993|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001295 Achlorhydria IAGP D RGD:1581602|PMID:16368876 20110617 RGD DNA:deletion:exon (rat) 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10376919|PMID:10973849|PMID:12702160|PMID:14678125|PMID:15028050|PMID:15498462|PMID:16627448|PMID:16922724|PMID:17470695|PMID:17984373|PMID:19490272|PMID:19716085|PMID:19841300|PMID:20368164|PMID:22095730|PMID:22581653|PMID:22949429|PMID:24217263|PMID:24861447|PMID:25192979|PMID:25741868|PMID:28492532|PMID:8528244 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1353354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9003163 Heart Block ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004538 Hearing Loss ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15004216 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:1580509|PMID:9312006 19990101 RGD 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10868744|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15528464|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16253915|PMID:16414944|PMID:16556865|PMID:16556866|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18400097|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19160088|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20981092|PMID:21059661|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24552659|PMID:24606995|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:26077850|PMID:26132555|PMID:26159999|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28619993|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30122538|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32048431|PMID:32168391|PMID:32238909|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9693036|PMID:9781056|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005444 Torsades de Pointes ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:28492532|PMID:29532034|PMID:30571187 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:15781747|PMID:15840476|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:16534005|PMID:17210839|PMID:17222736|PMID:17470695|PMID:17999538|PMID:18222468|PMID:18596570|PMID:18611041|PMID:19490272|PMID:19716085|PMID:19815527|PMID:21185501|PMID:21215473|PMID:21778721|PMID:22581653|PMID:22677073|PMID:23304551|PMID:23465283|PMID:24033266|PMID:24920132|PMID:25637381|PMID:25741868|PMID:26066609|PMID:26332594|PMID:27884173|PMID:28492532|PMID:29197658|PMID:30302399|PMID:30615648|PMID:31043699|PMID:31337358|PMID:31737537 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1353354 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353354 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion PMID:16414944|PMID:22581653|PMID:25741868|PMID:34398675 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1353354 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:7240710 20230517 OMIM 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15368194|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17329207|PMID:17329209|PMID:17467630|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21224508|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22508963|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22818067|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31043699|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008681 Deafness IAGP D RGD:1581602|PMID:16368876 20110617 RGD DNA:deletion:exon (rat) 621503 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353354 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18711366|PMID:18711367|PMID:26551672 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596469|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26148514|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27441201|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30478917|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31780880|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:19453707|PMID:23708187|PMID:24375629|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28733343|PMID:29390993|PMID:29455050|PMID:29852413|PMID:31780880|PMID:32139178|PMID:32917465|PMID:34055682|PMID:34120799|PMID:9425895 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:7240710 20130221 OMIM 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11572947|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:15030501|PMID:15249611|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17435769|PMID:17475800|PMID:17576681|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19453707|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23291709|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25092550|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25473036|PMID:25566516|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26594844|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27734276|PMID:27779742|PMID:27781029|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29190809|PMID:29263209|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30515704|PMID:30552426|PMID:30776697|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32585800|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:33659638|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:14534157|PMID:23692823|PMID:25741868|PMID:27779742|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736657 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:736657 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:25741868|PMID:27535030|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:34354098|PMID:34395220 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:12849 autistic disorder ISO RGD:736657 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14264 benign neonatal seizures ISO RGD:736657 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:19380078|PMID:26910900 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14264 benign neonatal seizures ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:16464983|PMID:29942082 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizures PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25982755|PMID:26795593|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:32860008|PMID:3360469|PMID:34711204|PMID:9536098 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736657 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Benign Rolandic epilepsy PMID:18625963 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:543 dystonia ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:630 genetic disease ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10684873|PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:26993267|PMID:27334371|PMID:27466704|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28717674|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29263209|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29760947|PMID:30185235|PMID:30440138|PMID:30552426|PMID:31105003|PMID:31152295|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32362866|PMID:32573669|PMID:32581362|PMID:32770121|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33754465|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9425895|PMID:9836639|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:863 nervous system disease ISO RGD:736657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:7240710 20130425 OMIM 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia PMID:10323247|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14669214|PMID:14985406|PMID:15030501|PMID:15178210|PMID:15249611|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18006581|PMID:18246739|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:19818940|PMID:20119593|PMID:20437616|PMID:21913284|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23290024|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:4055306|PMID:7980108|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20437616|PMID:23621294|PMID:23692823|PMID:23934111|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26007637|PMID:27535030|PMID:27602407|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29655203|PMID:31418850|PMID:32179837|PMID:32581362 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:12742592|PMID:15249611|PMID:17129708|PMID:18625963|PMID:19464834|PMID:28492532|PMID:29314763|PMID:31199083 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736657 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9006888 Benign Neonatal Epilepsy, 1 ISO RGD:736657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:20119593|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35557555|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736657 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:20805988|PMID:27602407 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008347 Benign Neonatal Epilepsy 1, and/or Myokymia ISO RGD:736657 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia PMID:24375629|PMID:25741868 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:936 brain disease ISO RGD:736657 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:27602407 621504 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:936 brain disease ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868|PMID:28492532 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:0050777 Joubert syndrome ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1345735 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:28714182 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345735 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:10283 prostate cancer ISO RGD:1345735 D RGD:2298796|PMID:18071319 20080724 RGD 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:12849 autistic disorder ISO RGD:1345735 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:630 genetic disease ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:9002170 Experimental Neoplasms ISO RGD:1345735 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 621505 Mapk7 mitogen-activated protein kinase 7 gene DOID:9002211 Hyperalgesia ISO RGD:1345735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17237256 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:0050860 colorectal adenoma ISO RGD:732271 D RGD:13217408|PMID:21122381 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:0050860 colorectal adenoma ISO RGD:732271 D RGD:13217413|PMID:23082052 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732271 D RGD:13217408|PMID:21122381 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:150340686|PMID:27909723 20210826 RGD protein:increased phosphorylation:adipose tissue, liver (rat) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:13506784|PMID:24404139 20180214 RGD associated with Diabetes Mellitus, Type 2; 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732271 D RGD:10412676|PMID:11208906 20151119 RGD protein:increased expression:brain,CA1 field of hippocampus: 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:10763 hypertension IDA D RGD:1582315|PMID:15302844 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732272 D RGD:10412675|PMID:23341606 20151119 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:11168 anogenital venereal wart treatment ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:11372 megacolon ISO RGD:732271 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:12098 trigeminal neuralgia ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:12205 dengue disease ISO RGD:732272 D RGD:150340680|PMID:28188818 20210826 RGD protein:increased phosphorylation:liver (mouse) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:13619 extrahepatic cholestasis ISO RGD:732271 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:1508 candidiasis ameliorates ISO RGD:732272 D RGD:150340684|PMID:28112734 20210826 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:13217410|PMID:22199996 20170912 RGD DNA:SNP: :rs10508901 (human) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:13217411|PMID:23027623 20170912 RGD DNA:SNP: :rs10857561 (human) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732271 D RGD:150340677|PMID:31784499 20210826 RGD associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:2237 hepatitis ISO RGD:732272 D RGD:153305943|PMID:25173965 20220810 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:2316 brain ischemia IDA D RGD:1582325|PMID:15797868 20061106 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:289 endometriosis ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:peritoneum (human) PMID:25207642|REF_RGD_ID:150340690 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732272 D RGD:155663371|PMID:34331613 20221114 RGD mRNA, protein:increased expression:lung (mouse) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:732271 D RGD:5490968|PMID:20699612 20110921 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:3310 atopic dermatitis ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24046278 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:732272 D RGD:14348975|PMID:23237571 20190205 RGD protein:increased phosphorylation:pancreas (mouse) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732272 D RGD:14348974|PMID:28837246 20190205 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:3944 Arenaviridae infectious disease ISO RGD:732272 D RGD:150340679|PMID:11927625 20210826 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732271 D RGD:150340683|PMID:24395444 20210826 RGD protein:increased phosphorylation:pancreas (human) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:6218988|PMID:21894146 20130304 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:5419 schizophrenia ISO RGD:732271 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:5844 myocardial infarction ameliorates IEP D RGD:329333030|PMID:28622474 20230426 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732271 D RGD:150340688|PMID:33875785 20210826 RGD protein:decreased phosphorylation:liver (human) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732272 D RGD:1582313|PMID:16311603 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:874 bacterial pneumonia severity ISO RGD:732272 D RGD:150340681|PMID:22514650 20210826 RGD associated with Escherichia Coli Infections 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18593901 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9000371 influenza A ameliorates ISO RGD:732272 D RGD:150340681|PMID:22514650 20210826 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9000955 Acute Otitis Media ISO RGD:732272 D RGD:150340689|PMID:21307808 20210826 RGD mRNA:decreased expression:middle ear (mouse) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002137 Infectious Ectromelia exacerbates ISO RGD:732272 D RGD:150340678|PMID:24673683 20210826 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10412680|PMID:11679968 20151119 RGD protein:increased activity:liver: 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002211 Hyperalgesia ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:732272 D RGD:13217412|PMID:17591974 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:732272 D RGD:13217409|PMID:23327547 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:732272 D RGD:10412674|PMID:19433784 20151119 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:732271 D RGD:13217412|PMID:17591974 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:732271 D RGD:13217414|PMID:18460448 20170912 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9003936 Cardiomegaly ISO RGD:732272 D RGD:1582316|PMID:12668503 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury IDA D RGD:1582310|PMID:16699462 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20302854 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004484 Sepsis treatment IDA D RGD:126928138|PMID:14662889 20210826 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004590 Acute Liver Failure ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17185352 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9005666 Contrast-Induced Nephropathy treatment IDA D RGD:13782262|PMID:27781957 20180829 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9005930 Endotoxemia IEP D RGD:150340687|PMID:12207162 20210826 RGD protein:increased phophorylation:hippocampus (rat) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9006205 Animal Disease Models ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007096 Stroke IDA D RGD:1582317|PMID:10773432 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:732272 D RGD:150340682|PMID:27506464 20210826 RGD associated with Pneumonia, Ventilator-Associated 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732271 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21726611 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1582311|PMID:15309413 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1582312|PMID:12883833 20061104 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220923 RGD 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9008114 Helicobacter Infections ISO RGD:732271 D RGD:150340691|PMID:17643099 20210826 RGD protein:increased expression:pyloric antrum (human) 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13506785|PMID:21911753 20180214 RGD protein:hyperphosphorylation:pancreatic islet: 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732271 D RGD:13506785|PMID:21911753 20180214 RGD protein:hyperphosphorylation:pancreatic islet: 621506 Mapk8 mitogen-activated protein kinase 8 gene DOID:9452 fatty liver disease ISO RGD:732272 D RGD:9585751|PMID:21540183 20151120 RGD 621507 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:0080600 COVID-19 ISO RGD:731291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621507 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:731291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 621507 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731291 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621507 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731291 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621507 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:630 genetic disease ISO RGD:731291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621507 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:9006205 Animal Disease Models ISO RGD:731291 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621509 Ctsb cathepsin B gene DOID:0060180 colitis ISO RGD:1558619 D RGD:5686873|PMID:21802389 20120130 RGD protein:increased activity:cecum, colon, spinal cord 621509 Ctsb cathepsin B gene DOID:0080000 muscular disease ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7099197 621509 Ctsb cathepsin B gene DOID:0080322 polycystic kidney disease IEP D RGD:5686402|PMID:8840269 20120120 RGD protein:increased expression:kidney proximal tubule 621509 Ctsb cathepsin B gene DOID:0080600 COVID-19 ISO RGD:734437 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621509 Ctsb cathepsin B gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2315517|PMID:17723883 20091230 RGD protein:increased activity:pancreas (rat) 621509 Ctsb cathepsin B gene DOID:10754 otitis media IEP D RGD:1342442|PMID:15179208 20100106 RGD mRNA:increased expression:middle ear mucosa (rat) 621509 Ctsb cathepsin B gene DOID:10941 intracranial aneurysm IEP D RGD:2306495|PMID:18635848 20091230 RGD mRNA, protein:increased expression, increased activity:Circle of Willis (rat) 621509 Ctsb cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:734437 D RGD:2306495|PMID:18635848 20091230 RGD protein:increased expression:cerebral aneurysm (human) 621509 Ctsb cathepsin B gene DOID:11054 urinary bladder cancer ISO RGD:734437 D RGD:2315615|PMID:15183956 20100106 RGD protein:increased activity:transitional cell carcinoma (human) 621509 Ctsb cathepsin B gene DOID:12842 Guillain-Barre syndrome ISO RGD:734437 D RGD:5686395|PMID:11134381 20120120 RGD protein:increased expression:cerebrospinal fluid 621509 Ctsb cathepsin B gene DOID:14004 thoracic aortic aneurysm ISO RGD:734437 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 621509 Ctsb cathepsin B gene DOID:14219 renal tubular acidosis IEP D RGD:2315534|PMID:7873730 20100104 RGD protein:decreased activity:renal proximal tubule (rat) 621509 Ctsb cathepsin B gene DOID:1612 breast cancer ISO RGD:734437 D RGD:2315523|PMID:9508185 20091231 RGD protein:increased expression:breast carcinoma, cytosol (human) 621509 Ctsb cathepsin B gene DOID:1936 atherosclerosis ISO RGD:1558619 D RGD:5687152|PMID:12213722 20120201 RGD 621509 Ctsb cathepsin B gene DOID:2316 brain ischemia IEP D RGD:2315571|PMID:18404379 20100105 RGD protein:increased activity:cerebrum (rat) 621509 Ctsb cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:1558619 D RGD:5686392|PMID:17086443 20120120 RGD 621509 Ctsb cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:734437 D RGD:5686395|PMID:11134381 20120120 RGD protein:increased expression:cerebrospinal fluid 621509 Ctsb cathepsin B gene DOID:2671 transitional cell carcinoma ISO RGD:734437 D RGD:2315615|PMID:15183956 20120120 RGD protein:increased expression:urinary bladder 621509 Ctsb cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 621509 Ctsb cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:2315515|PMID:17898873 20091230 RGD protein:increased expression:glioma cell (human) 621509 Ctsb cathepsin B gene DOID:3070 high grade glioma IDA D RGD:2315520|PMID:17287256 20091231 RGD 621509 Ctsb cathepsin B gene DOID:3454 brain infarction IEP D RGD:2315502|PMID:19941836 20091229 RGD protein:increased expression:cerebral cortical segment, cytoplasm (rat) 621509 Ctsb cathepsin B gene DOID:4450 renal cell carcinoma ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 621509 Ctsb cathepsin B gene DOID:4914 esophagus adenocarcinoma ISO RGD:734437 D RGD:734853|PMID:9770500 19990101 RGD 621509 Ctsb cathepsin B gene DOID:576 proteinuria ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 621509 Ctsb cathepsin B gene DOID:5844 myocardial infarction IEP D RGD:2315501|PMID:19958779 20091229 RGD protein:increased activity:serum, heart (rat) 621509 Ctsb cathepsin B gene DOID:630 genetic disease ISO RGD:734437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621509 Ctsb cathepsin B gene DOID:684 hepatocellular carcinoma IDA D RGD:2315605|PMID:15641152 20100105 RGD 621509 Ctsb cathepsin B gene DOID:885 fascioliasis IEP D RGD:2315504|PMID:19696938 20091229 RGD protein:decreased activity:liver (rat) 621509 Ctsb cathepsin B gene DOID:9000918 Disease Progression ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 621509 Ctsb cathepsin B gene DOID:9000965 Neoplasm Metastasis ISO RGD:734437 D RGD:5686394|PMID:12589965 20120120 RGD protein:increased expression:cerebrospinal fluid 621509 Ctsb cathepsin B gene DOID:9001542 Albuminuria IDA D RGD:2315726|PMID:19023196 20100111 RGD associated with Hypertension 621509 Ctsb cathepsin B gene DOID:9002304 Prostatic Neoplasms ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 621509 Ctsb cathepsin B gene DOID:9002457 Experimental Arthritis IEP D RGD:2315521|PMID:17195213 20091231 RGD mRNA:increased expression:knee joint, synovium (rat) 621509 Ctsb cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:7240710 20190315 OMIM 621509 Ctsb cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Keratolytic winter erythema PMID:25741868|PMID:28492532 621509 Ctsb cathepsin B gene DOID:9004009 Reperfusion Injury IEP D RGD:2315506|PMID:18938146 20091230 RGD protein:increased expression:cerebral cortex, mitochondrion (rat) 621509 Ctsb cathepsin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734437 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621509 Ctsb cathepsin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:19747051 621509 Ctsb cathepsin B gene DOID:9004871 Mercury Poisoning, Nervous System IMP D RGD:2315510|PMID:18638529 20091230 RGD 621509 Ctsb cathepsin B gene DOID:9005166 Contusions IEP D RGD:631244|PMID:11788364 20211223 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) 621509 Ctsb cathepsin B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315531|PMID:10393385 20100104 RGD protein:decreased activity:glomerulus (rat) 621509 Ctsb cathepsin B gene DOID:9005749 Necrosis ISO RGD:734437 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 621509 Ctsb cathepsin B gene DOID:9006487 Reoviridae Infections ISO RGD:1558619 D RGD:5686877|PMID:19640986 20120130 RGD 621509 Ctsb cathepsin B gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:734437 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 621509 Ctsb cathepsin B gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:2315516|PMID:17850215 20091230 RGD protein:increased activity:liver, cytosol (rat) 621509 Ctsb cathepsin B gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:734437 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962 621509 Ctsb cathepsin B gene DOID:9008091 Optic Nerve Injuries IEP D RGD:2315508|PMID:18775855 20091230 RGD protein:increased expression:retina (rat) 621509 Ctsb cathepsin B gene DOID:9008444 Skeletal Muscle Injuries IEP D RGD:631244|PMID:11788364 20211215 RGD protein:increased activity:gastrocnemius (rat) 621509 Ctsb cathepsin B gene DOID:9351 diabetes mellitus onset ISO RGD:734437 D RGD:2315528|PMID:18706099 20100104 RGD DNA:transversion:cds:p.L26V (human) 621509 Ctsb cathepsin B gene DOID:9352 type 2 diabetes mellitus ISO RGD:734437 D RGD:2315527|PMID:19367387 20100104 RGD mRNA:decreased expression:pancreatic islet (human) 621509 Ctsb cathepsin B gene DOID:9452 fatty liver disease IEP D RGD:2315513|PMID:18452148 20091230 RGD mRNA, protein:increased expression, increased activity:liver, cytosol (rat) 621509 Ctsb cathepsin B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1558619 D RGD:2315524|PMID:19664906 20100107 RGD 621511 Ctsd cathepsin D gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621511 Ctsd cathepsin D gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 621511 Ctsd cathepsin D gene DOID:0080600 COVID-19 ISO RGD:1351014 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621511 Ctsd cathepsin D gene DOID:0080773 delta beta-thalassemia ISO RGD:1351014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 621511 Ctsd cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:7240710 20130221 OMIM 621511 Ctsd cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 PMID:10218883|PMID:16670177|PMID:16685649|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:33681191 621511 Ctsd cathepsin D gene DOID:0111969 immunodeficiency 39 ISO RGD:1351014 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 621511 Ctsd cathepsin D gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621511 Ctsd cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:1358532|PMID:11304834 19990101 RGD 621511 Ctsd cathepsin D gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10218883|PMID:16199547|PMID:16670177|PMID:16685649|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26059544|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:29373990|PMID:32421885|PMID:33681191|PMID:34331747|PMID:9536098 621511 Ctsd cathepsin D gene DOID:1612 breast cancer ISO RGD:1351014 D RGD:1547890|PMID:12140763 19990101 RGD human gene in a mouse model 621511 Ctsd cathepsin D gene DOID:1826 epilepsy ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 621511 Ctsd cathepsin D gene DOID:1936 atherosclerosis ISO RGD:732637 D RGD:5687152|PMID:12213722 20120201 RGD 621511 Ctsd cathepsin D gene DOID:4450 renal cell carcinoma ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 621511 Ctsd cathepsin D gene DOID:557 kidney disease ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 621511 Ctsd cathepsin D gene DOID:630 genetic disease ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10218883|PMID:16670177|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 621511 Ctsd cathepsin D gene DOID:684 hepatocellular carcinoma ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 621511 Ctsd cathepsin D gene DOID:7148 rheumatoid arthritis ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 621511 Ctsd cathepsin D gene DOID:8398 osteoarthritis ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621511 Ctsd cathepsin D gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351014 D RGD:1547892|PMID:10562684 19990101 RGD protein:increased expression:oral cavity, oropharynx, hypopharynx (human) 621511 Ctsd cathepsin D gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351014 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 621511 Ctsd cathepsin D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621511 Ctsd cathepsin D gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1351014 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 621511 Ctsd cathepsin D gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 621511 Ctsd cathepsin D gene DOID:9004657 Weight Gain ISO RGD:1351014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621512 Gdf10 growth differentiation factor 10 gene DOID:10283 prostate cancer ISO RGD:1342570 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621512 Gdf10 growth differentiation factor 10 gene DOID:5419 schizophrenia ISO RGD:1342570 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621512 Gdf10 growth differentiation factor 10 gene DOID:630 genetic disease ISO RGD:1342570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621512 Gdf10 growth differentiation factor 10 gene DOID:9003566 Mesothelioma ISO RGD:1342570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18949431 621512 Gdf10 growth differentiation factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1342570 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 621513 Ctss cathepsin S gene DOID:0060180 colitis ISO RGD:731651 D RGD:5686873|PMID:21802389 20120130 RGD protein:increased activity:cecum, colon, spinal cord 621513 Ctss cathepsin S gene DOID:0111940 immunodeficiency 42 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621513 Ctss cathepsin S gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621513 Ctss cathepsin S gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 621513 Ctss cathepsin S gene DOID:10652 Alzheimer's disease ISO RGD:1350928 D RGD:5686914|PMID:7717452 20120131 RGD 621513 Ctss cathepsin S gene DOID:10941 intracranial aneurysm IEP D RGD:2306495|PMID:18635848 20120131 RGD mRNA:increased expression:brain, artery 621513 Ctss cathepsin S gene DOID:11723 Duchenne muscular dystrophy ISS RGD:731651 D RGD:13592920 20180518 MouseDO OMIM:310200 621513 Ctss cathepsin S gene DOID:11832 visual epilepsy ISO RGD:731651 D RGD:5686910|PMID:17997037 20120131 RGD protein:increased expression:hippocampus CA1, microglial cell 621513 Ctss cathepsin S gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731651 D RGD:5686913|PMID:12368333 20120131 RGD 621513 Ctss cathepsin S gene DOID:14250 Down syndrome ISO RGD:1350928 D RGD:5686914|PMID:7717452 20120131 RGD 621513 Ctss cathepsin S gene DOID:1540 parathyroid carcinoma ISO RGD:1350928 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621513 Ctss cathepsin S gene DOID:1936 atherosclerosis ISO RGD:731651 D RGD:5687152|PMID:12213722 20120201 RGD 621513 Ctss cathepsin S gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1350928 D RGD:5687146|PMID:21143385 20120201 RGD mRNA, protein:increased expression:blood, leukocyte 621513 Ctss cathepsin S gene DOID:2773 contact dermatitis ISO RGD:1350928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 621513 Ctss cathepsin S gene DOID:3407 carotid artery disease ISO RGD:1350928 D RGD:5687151|PMID:9691094 20120201 RGD 621513 Ctss cathepsin S gene DOID:5812 MHC class II deficiency ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621513 Ctss cathepsin S gene DOID:630 genetic disease ISO RGD:1350928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621513 Ctss cathepsin S gene DOID:870 neuropathy onset ISO RGD:1350928 D RGD:5686916|PMID:21228734 20120131 RGD associated with multiple myeloma;DNA:SNP:intron:c.249+541C>T (rs12568757) (human) 621513 Ctss cathepsin S gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2303423|PMID:16344894 20120131 RGD 621513 Ctss cathepsin S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621513 Ctss cathepsin S gene DOID:9002211 Hyperalgesia IMP D RGD:5686870|PMID:22213084 20120130 RGD associated with Arthritis, Experimental 621513 Ctss cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:731651 D RGD:5686873|PMID:21802389 20120130 RGD associated with Colitis 621513 Ctss cathepsin S gene DOID:9002457 Experimental Arthritis ISO RGD:731651 D RGD:5686915|PMID:21439785 20120131 RGD 621513 Ctss cathepsin S gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350928 D RGD:5687149|PMID:16631730 20120201 RGD 621513 Ctss cathepsin S gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731651 D RGD:5686915|PMID:21439785 20120131 RGD 621513 Ctss cathepsin S gene DOID:9004001 Facial Nerve Injuries ISO RGD:731651 D RGD:5686912|PMID:17539023 20120131 RGD 621513 Ctss cathepsin S gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 621513 Ctss cathepsin S gene DOID:9005968 Neuralgia IEP D RGD:5686878|PMID:18700000 20120130 RGD 621513 Ctss cathepsin S gene DOID:9005968 Neuralgia IMP D RGD:5686911|PMID:17551020 20120131 RGD 621513 Ctss cathepsin S gene DOID:9006487 Reoviridae Infections ISO RGD:731651 D RGD:5686877|PMID:19640986 20120130 RGD 621513 Ctss cathepsin S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350928 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621513 Ctss cathepsin S gene DOID:9970 obesity ISO RGD:1350928 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 621515 Gng11 G protein subunit gamma 11 gene DOID:3910 lung adenocarcinoma ISO RGD:735931 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 621515 Gng11 G protein subunit gamma 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735931 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621515 Gng11 G protein subunit gamma 11 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621516 Gng12 G protein subunit gamma 12 gene DOID:1059 intellectual disability ISO RGD:1319444 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 621517 Crlf3 cytokine receptor-like factor 3 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1342810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 621517 Crlf3 cytokine receptor-like factor 3 gene DOID:1969 cerebral palsy ISO RGD:1342810 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 621517 Crlf3 cytokine receptor-like factor 3 gene DOID:630 genetic disease ISO RGD:1342810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621517 Crlf3 cytokine receptor-like factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1342810 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 621518 Nln neurolysin gene DOID:0080600 COVID-19 ISO RGD:731408 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621518 Nln neurolysin gene DOID:630 genetic disease ISO RGD:731408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621518 Nln neurolysin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731408 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621519 Adarb2 adenosine deaminase, RNA-specific, B2 gene DOID:13938 amenorrhea ISO RGD:736199 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 621519 Adarb2 adenosine deaminase, RNA-specific, B2 gene DOID:14330 Parkinson's disease ISO RGD:736199 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 621519 Adarb2 adenosine deaminase, RNA-specific, B2 gene DOID:303 substance-related disorder ISO RGD:736199 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 621519 Adarb2 adenosine deaminase, RNA-specific, B2 gene DOID:630 genetic disease ISO RGD:736199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621520 Kif1b kinesin family member 1B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732615 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 621520 Kif1b kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:25025039|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 621520 Kif1b kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:9536098 621520 Kif1b kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:34169998|PMID:9536098 621520 Kif1b kinesin family member 1B gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732615 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 621520 Kif1b kinesin family member 1B gene DOID:0050771 pheochromocytoma ISO RGD:732615 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621520 Kif1b kinesin family member 1B gene DOID:0050771 pheochromocytoma ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:25741868|PMID:26392352|PMID:28492532|PMID:28637693|PMID:32376792 621520 Kif1b kinesin family member 1B gene DOID:0050890 synucleinopathy IEP D RGD:11049591|PMID:19295143 20170203 RGD protein:decreased expression:striatum, membrane (rat) 621520 Kif1b kinesin family member 1B gene DOID:0050892 adrenal gland pheochromocytoma ISO RGD:732615 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adrenal gland pheochromocytoma PMID:25741868 621520 Kif1b kinesin family member 1B gene DOID:0060249 scoliosis ISO RGD:732615 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 621520 Kif1b kinesin family member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732615 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621520 Kif1b kinesin family member 1B gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732615 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:25741868 621520 Kif1b kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:732615 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621520 Kif1b kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:732615 D RGD:12738406|PMID:11389829 20170203 RGD DNA:missense mutation:cds:p.Q98L (human) 621520 Kif1b kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 PMID:11389829|PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9409358|PMID:9536098 621520 Kif1b kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 susceptibility ISO RGD:732615 D RGD:7240710 20230505 OMIM 621520 Kif1b kinesin family member 1B gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:732615 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:25741868|PMID:28492532 621520 Kif1b kinesin family member 1B gene DOID:0111936 immunodeficiency 14 ISO RGD:732615 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 621520 Kif1b kinesin family member 1B gene DOID:1059 intellectual disability ISO RGD:732615 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621520 Kif1b kinesin family member 1B gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 621520 Kif1b kinesin family member 1B gene DOID:12306 vitiligo ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo PMID:25741868|PMID:28492532 621520 Kif1b kinesin family member 1B gene DOID:1612 breast cancer ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18334619|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532 621520 Kif1b kinesin family member 1B gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:732615 D RGD:12738465|PMID:25854172 20170206 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) 621520 Kif1b kinesin family member 1B gene DOID:2377 multiple sclerosis ISO RGD:732615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18997785 621520 Kif1b kinesin family member 1B gene DOID:2377 multiple sclerosis no_association ISO RGD:732615 D RGD:12738463|PMID:20502484 20170206 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) 621520 Kif1b kinesin family member 1B gene DOID:2377 multiple sclerosis susceptibility ISO RGD:732615 D RGD:12738462|PMID:18997785 20170206 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) 621520 Kif1b kinesin family member 1B gene DOID:2394 ovarian cancer ISO RGD:732615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 621520 Kif1b kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:12738468|PMID:17418584 20170206 RGD mRNA:decreased expression:precentral gyrus (human) 621520 Kif1b kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1317949 D RGD:12738469|PMID:24904291 20170206 RGD mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse) 621520 Kif1b kinesin family member 1B gene DOID:630 genetic disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621520 Kif1b kinesin family member 1B gene DOID:684 hepatocellular carcinoma severity ISO RGD:732615 D RGD:11052488|PMID:26217094 20170206 RGD mRNA, protein:decreased expression:liver (human) 621520 Kif1b kinesin family member 1B gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732615 D RGD:12738461|PMID:27122668 20170206 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) 621520 Kif1b kinesin family member 1B gene DOID:769 neuroblastoma ISO RGD:732615 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 621520 Kif1b kinesin family member 1B gene DOID:769 neuroblastoma ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532|PMID:28637693|PMID:30126838|PMID:30487145|PMID:32376792|PMID:33362715 621520 Kif1b kinesin family member 1B gene DOID:769 neuroblastoma susceptibility ISO RGD:732615 D RGD:7240710 20190502 OMIM 621520 Kif1b kinesin family member 1B gene DOID:9005077 Joint Instability ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:26392352|PMID:28492532 621520 Kif1b kinesin family member 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:28637693|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:32565791|PMID:33362715|PMID:34169998|PMID:9536098 621520 Kif1b kinesin family member 1B gene DOID:9008086 Developmental Disabilities ISO RGD:732615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 621521 Sdf4 stromal cell derived factor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621521 Sdf4 stromal cell derived factor 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 621521 Sdf4 stromal cell derived factor 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731601 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 621521 Sdf4 stromal cell derived factor 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731601 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 621521 Sdf4 stromal cell derived factor 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:731601 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 621521 Sdf4 stromal cell derived factor 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621521 Sdf4 stromal cell derived factor 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621521 Sdf4 stromal cell derived factor 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621521 Sdf4 stromal cell derived factor 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:731601 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 621521 Sdf4 stromal cell derived factor 4 gene DOID:5419 schizophrenia ISO RGD:731601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 621521 Sdf4 stromal cell derived factor 4 gene DOID:630 genetic disease ISO RGD:731601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621521 Sdf4 stromal cell derived factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731601 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621521 Sdf4 stromal cell derived factor 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731601 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 621521 Sdf4 stromal cell derived factor 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733215 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048|PMID:25741868 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:733215 D RGD:7240710 20130221 OMIM 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXd ISO RGD:733215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:12825073|PMID:15637709|PMID:16199547|PMID:17576681|PMID:18401027|PMID:22238410|PMID:2252364|PMID:25640679|PMID:25741868|PMID:26242992|PMID:28492532|PMID:29667327|PMID:32528171|PMID:7874115|PMID:8145916|PMID:9536098|PMID:9731190 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:733215 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:1459 hypothyroidism IDA D RGD:70269|PMID:2774570 20070220 RGD 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:2747 glycogen storage disease ISO RGD:733215 D RGD:1599893|PMID:12825073 20070220 RGD DNA:missense mutation 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:574 peripheral nervous system disease ISO RGD:733215 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:8445 intestinal volvulus ISO RGD:733215 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:870 neuropathy ISO RGD:733215 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1599897|PMID:11692172 20070220 RGD 621522 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733215 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 621523 Nkg7 natural killer cell granule protein 7 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 621523 Nkg7 natural killer cell granule protein 7 gene DOID:630 genetic disease ISO RGD:1347836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621524 Kcns1 potassium voltage-gated channel, modifier subfamily S, member 1 gene DOID:2234 focal epilepsy ISO RGD:735720 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621524 Kcns1 potassium voltage-gated channel, modifier subfamily S, member 1 gene DOID:630 genetic disease ISO RGD:735720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621524 Kcns1 potassium voltage-gated channel, modifier subfamily S, member 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:735720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 621525 Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 621525 Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 gene DOID:630 genetic disease ISO RGD:1342899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:0060478 Zika fever ISO RGD:732704 D RGD:32733625|PMID:30241539 20200701 RGD mRNA:increased expression:brain 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:10241 thalassemia ISS RGD:732704 D RGD:13592920 20180518 MouseDO 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:224 transient cerebral ischemia IEP D RGD:9999154|PMID:15255948 20150408 RGD protein:increased expression:cerebral cortex (rat) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:2316 brain ischemia IEP D RGD:9999408|PMID:15713259 20150417 RGD protein:increased expression:cerebral cortex, caudate nucleus (rat) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:3213 demyelinating disease severity ISO RGD:732704 D RGD:9999156|PMID:18818381 20150408 RGD 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732704 D RGD:9999418|PMID:23118353 20150417 RGD protein:increased expression:spinal cord, astrocyte, microglia (mouse) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:630 genetic disease ISO RGD:1342864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9999410|PMID:17578450 20150417 RGD mRNA:increased expression:spinal cord (rat) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1342864 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1342864 D RGD:32716425|PMID:26234401 20200630 RGD mRNA,protein:increased expression:liver 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9002804 Amaurosis Fugax ISO RGD:732704 D RGD:9999160|PMID:17975099 20150408 RGD mRNA:increased expression:neuroretina (mouse) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9002884 Emphysema IEP D RGD:9999407|PMID:22675432 20150417 RGD mRNA:increased expression:lung (rat) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9007096 Stroke treatment IDA D RGD:9999417|PMID:24573692 20150417 RGD 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1342864 D RGD:9999150|PMID:20965186 20150408 RGD mRNA:increased expression:jejunum (human) 621526 Ppp1r15a protein phosphatase 1, regulatory subunit 15A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1342864 D RGD:32716425|PMID:26234401 20200630 RGD mRNA,protein:increased expression:liver 621527 Kcns3 potassium voltage-gated channel, modifier subfamily S, member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:731286 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 621527 Kcns3 potassium voltage-gated channel, modifier subfamily S, member 3 gene DOID:630 genetic disease ISO RGD:731286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1350447 D RGD:5135501|PMID:17298426 20110725 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350447 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733057 D RGD:8551819|PMID:18798077 20140411 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0081267 graft-versus-host disease ISO RGD:733057 D RGD:5135435|PMID:19218194 20110720 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1205 allergic disease ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733057 D RGD:5135483|PMID:18624292 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:12849 autistic disorder ISO RGD:1350447 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:12930 dilated cardiomyopathy IDA D RGD:1598502|PMID:15322218 20061201 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1350447 D RGD:5135492|PMID:9834133 20110722 RGD protein:increased expression:respiratory system fluid/secretion, T cell 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1350447 D RGD:5135442|PMID:16014397 20110720 RGD mRNA:increased expression:aorta 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1350447 D RGD:4145632|PMID:19017998 20110722 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1532 pleural disease ISO RGD:1350447 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1591 renovascular hypertension IDA D RGD:2311383|PMID:17062848 20090709 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2773 contact dermatitis ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:733057 D RGD:5135441|PMID:16709871 20110720 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:733057 D RGD:5135451|PMID:12097412 20110720 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1350447 D RGD:5135484|PMID:17641057 20110722 RGD protein:decreased expression:respiratory system fluid/secretion, T cell 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733057 D RGD:4892088|PMID:18094012 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma severity ISO RGD:1350447 D RGD:5143932|PMID:16548899 20110727 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma susceptibility ISO RGD:1350447 D RGD:5143934|PMID:16043121 20110727 RGD DNA:SNP:intron:IVS1+234G>A (human) 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2921 glomerulonephritis ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733057 D RGD:30309221|PMID:15356152 20200619 RGD mRNA:altered expression:lung (mouse) 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3070 high grade glioma IMP D RGD:5135509|PMID:16434036 20110725 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350447 D RGD:4145632|PMID:19017998 20110722 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1350447 D RGD:5135435|PMID:19218194 20110720 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:326 ischemia ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3525 middle cerebral artery infarction IEP D RGD:632989|PMID:10825390 20150304 RGD mRNA:increased expression:cerebral cortex 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733057 D RGD:5135446|PMID:15254596 20110720 RGD associated with Lung Injury 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:417 autoimmune disease ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:418 systemic scleroderma ISO RGD:1350447 D RGD:5135279|PMID:21303517 20110719 RGD protein:decreased expression:skin, endothelial cell 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:4247 coronary restenosis ISO RGD:1350447 D RGD:1598500|PMID:14578618 20061201 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:437 myasthenia gravis ISO RGD:1350447 D RGD:1598501|PMID:15843529 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:5135445|PMID:15265940 20110720 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:5135491|PMID:14979941 20110722 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1350447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1350447 D RGD:4145632|PMID:19017998 20110722 RGD protein:increased expression:synovial fluid, neutrophil 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:820 myocarditis IDA D RGD:1598502|PMID:15322218 20061201 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1350447 D RGD:4145620|PMID:19842835 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:733057 D RGD:5135448|PMID:14991597 20110720 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1350447 D RGD:6480657|PMID:21087446 20120329 RGD mRNA:increased expression:peripheral blood immature plasma cells (human) 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:874 bacterial pneumonia ISO RGD:733057 D RGD:5135459|PMID:15618188 20110721 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9000310 Lung Injury ISO RGD:733057 D RGD:5135486|PMID:17086735 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733057 D RGD:5135487|PMID:16885372 20110722 RGD associated with Mammary Neoplasms, Experimental 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9002605 Delayed Hypersensitivity IMP D RGD:5143937|PMID:15884054 20110727 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5135506|PMID:21038468 20110725 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2311381|PMID:17549754 20090709 RGD mRNA:increased expression:brain 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:2311376|PMID:18589091 20090709 RGD mRNA:increased expression:liver 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9005372 Inflammation ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1350447 D RGD:5135493|PMID:20561238 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9007096 Stroke ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:1598501|PMID:15843529 20061201 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IMP D RGD:2311364|PMID:19232748 20090708 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:733057 D RGD:4892119|PMID:19039768 20110725 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9675 pulmonary emphysema ISO RGD:1350447 D RGD:4892104|PMID:15526056 20110722 RGD 621528 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:986 alopecia areata ISO RGD:1350447 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 621529 Ptms parathymosin gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 621529 Ptms parathymosin gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734337 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 621529 Ptms parathymosin gene DOID:0111621 Temtamy syndrome ISO RGD:734337 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 621529 Ptms parathymosin gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734337 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:0060898 Parkinson's disease 20 ISO RGD:734339 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:1588 thrombocytopenia ISO RGD:734339 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:3312 bipolar disorder ISO RGD:734339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16420717 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:3393 coronary artery disease ISO RGD:734339 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:4450 renal cell carcinoma ISO RGD:734339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:630 genetic disease ISO RGD:734339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621530 Slc5a3 solute carrier family 5 member 3 gene DOID:9005698 ZTTK Syndrome ISO RGD:734339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:30504930|PMID:35675825 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060001 withdrawal disorder ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11404432|PMID:12511956 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930|PMID:35675825 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060043 sexual health disorder ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:7240710 20220720 OMIM 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 76 PMID:35675825 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:35675825 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:11832 visual epilepsy IEP D RGD:4107726|PMID:19666089 20100719 RGD mRNA:increased expression:hippocampus (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:13413 hepatic encephalopathy IEP D RGD:4108489|PMID:19450629 20100726 RGD protein:decreased expression:hippocampus, synaptosome (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus IEP D RGD:13792697|PMID:25457025 20180920 RGD 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus IEP D RGD:4107719|PMID:19914343 20100716 RGD protein:decreased expression:hippocampus (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1826 epilepsy IEP D RGD:2326034|PMID:19154779 20100617 RGD protein:increased expression:hippocampus (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:2560 morphine dependence ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11404432 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:4481 allergic rhinitis ISO RGD:731547 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:5418 schizoaffective disorder ISS RGD:735685 D RGD:13592920 20180518 MouseDO 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:630 genetic disease ISO RGD:731547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:8927 learning disability ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16495937 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4107070|PMID:20398734 20100712 RGD protein:decreased expression:cerebral cortical neuron (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18171924|PMID:19036973 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9003736 Central Nervous System Viral Diseases IEP D RGD:2325963|PMID:19660546 20100615 RGD mRNA:increased expression:hippocampus (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:4107069|PMID:20408958 20100712 RGD mRNA:decreased expression:hippocampus (rat) 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731547 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731547 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28628100 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14684464|PMID:15764012|PMID:16495937|PMID:18430032|PMID:18486119 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9006024 Hypotension ISO RGD:731547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:7240710 20220720 OMIM 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67 PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:30504930|PMID:35675825 621531 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9279 hyperhomocysteinemia treatment IDA D RGD:13792697|PMID:25457025 20180920 RGD 621532 Gps1 G protein pathway suppressor 1 gene DOID:630 genetic disease ISO RGD:732073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19383498 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:7240710 20130221 OMIM 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 PMID:16222669|PMID:16826524|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25770198|PMID:26467025|PMID:28492532|PMID:9536098 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:7240710 20220727 OMIM 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1059 intellectual disability ISO RGD:735907 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:24950454|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:630 genetic disease ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29930392|PMID:9536098 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 621533 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735907 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 621534 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733287 D RGD:151347453|PMID:22280835 20220125 RGD DNA:SNPs:multiples: 621534 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:630 genetic disease ISO RGD:733287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621534 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 621534 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733287 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30259641 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness IAGP D RGD:13782370|PMID:18246026 20180910 RGD DNA:mutation:cds: c.2941C>T (rat) 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness ISO RGD:731992 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness ISO RGD:731992 D RGD:734671|PMID:12111638 19990101 RGD 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28041643|PMID:28492532|PMID:30825406|PMID:9662399|PMID:9662400 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532|PMID:30718709 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30718709 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:13782379|PMID:17525176 20180910 RGD DNA:deletion:exon: 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:7240710 20130221 OMIM 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:11281458|PMID:14230113|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:28838317|PMID:30718709|PMID:30825406|PMID:9662399 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731992 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731992 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731992 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:7240710 20130221 OMIM 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 PMID:10900517|PMID:11281458|PMID:12111638|PMID:12187427|PMID:12719097|PMID:15807819|PMID:15897456|PMID:17525176|PMID:17949918|PMID:19578023|PMID:22194652|PMID:23714322|PMID:24033266|PMID:24051672|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30576320|PMID:30718709|PMID:30825406|PMID:33037074|PMID:9529339|PMID:9662399|PMID:9662400 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:13782380|PMID:16505158 20180910 RGD DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human) 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:7240710 20130221 OMIM 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 PMID:11281458|PMID:15897456|PMID:17525176|PMID:22194652|PMID:23776498|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:29127258|PMID:29854783|PMID:30718709|PMID:30825406|PMID:31651202|PMID:9662399 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30718709 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:11830 myopia ISO RGD:731992 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:12849 autistic disorder ISO RGD:731992 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:4448 macular degeneration ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28492532|PMID:30718709|PMID:9536098 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:630 genetic disease ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:8501 fundus dystrophy ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11281458|PMID:12552565|PMID:17525176|PMID:19578023|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9662399 621535 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:9008296 Eye Abnormalities ISO RGD:731992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868|PMID:28041643 621536 Kif3a kinesin family member 3a gene DOID:0080006 bone development disease ISO RGD:1352051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 621536 Kif3a kinesin family member 3a gene DOID:0080322 polycystic kidney disease ISS RGD:1552608 D RGD:13592920 20210204 MouseDO 621536 Kif3a kinesin family member 3a gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621536 Kif3a kinesin family member 3a gene DOID:0080600 COVID-19 ISO RGD:1352051 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621536 Kif3a kinesin family member 3a gene DOID:10325 silicosis IEP D RGD:155791682|PMID:32042332 20230105 RGD protein:decreased expression:lung 621536 Kif3a kinesin family member 3a gene DOID:10325 silicosis ISO RGD:1352051 D RGD:155791682|PMID:32042332 20230105 RGD protein:increased expression:respiratory system fluid/secretion: 621536 Kif3a kinesin family member 3a gene DOID:1148 polydactyly ISO RGD:1352051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 621536 Kif3a kinesin family member 3a gene DOID:1934 dysostosis ISS RGD:1552608 D RGD:13592920 20180518 MouseDO 621536 Kif3a kinesin family member 3a gene DOID:2841 asthma ISO RGD:1352051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 621536 Kif3a kinesin family member 3a gene DOID:630 genetic disease ISO RGD:1352051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621536 Kif3a kinesin family member 3a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352051 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621536 Kif3a kinesin family member 3a gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621536 Kif3a kinesin family member 3a gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 621536 Kif3a kinesin family member 3a gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352051 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:10763 hypertension IEP D RGD:2315462|PMID:18338268 20091223 RGD mRNA:increased expression:brain 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11372 megacolon ISO RGD:734108 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy IDA D RGD:2315492|PMID:15153780 20091228 RGD 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy IEP D RGD:2315437|PMID:19054408 20091222 RGD protein:altered location:forebrain 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:12849 autistic disorder ISO RGD:734108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16770606|PMID:19002745 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:734108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:630 genetic disease ISO RGD:734108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:734108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16990508 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734108 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315971|PMID:2849069 20100119 RGD 621537 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36103875 621538 Kif3c kinesin family member 3C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 621538 Kif3c kinesin family member 3C gene DOID:0060224 atrial fibrillation ISO RGD:731540 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 621538 Kif3c kinesin family member 3C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 621538 Kif3c kinesin family member 3C gene DOID:630 genetic disease ISO RGD:731540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621539 Ireb2 iron responsive element binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:733858 D RGD:6893299|PMID:16914832 20120822 RGD DNA:SNPs: :rs2656070, rs13180(human) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia IEP D RGD:12904038|PMID:18549630 20170516 RGD mRNA:increased expression:duodenal mucosa (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia IEP D RGD:12910699|PMID:10095770 20170621 RGD protein:altered activity:intestinal villus of duodenum (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:736754 D RGD:6893298|PMID:18685102 20120822 RGD 621539 Ireb2 iron responsive element binding protein 2 gene DOID:2018 hyperinsulinism IEP D RGD:12903966|PMID:25385842 20170511 RGD protein:increased expression:liver (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:2355 anemia IEP D RGD:12903962|PMID:27602087 20170511 RGD mRNA:decreased expression:brain (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:2355 anemia treatment IDA D RGD:12903965|PMID:26584806 20170511 RGD 621539 Ireb2 iron responsive element binding protein 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736754 D RGD:11344088|PMID:26506412 20170511 RGD protein:increased expression:brain (mouse) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:2717 Bloom syndrome ISO RGD:733858 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621539 Ireb2 iron responsive element binding protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733858 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 621539 Ireb2 iron responsive element binding protein 2 gene DOID:630 genetic disease ISO RGD:733858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:12903962|PMID:27602087 20170511 RGD mRNA:increased expression:brain (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9004756 Brain Hypoxia IEP D RGD:6893269|PMID:22159112 20170515 RGD protein:increased expression:periventricular white matter (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9005725 Iron Overload IEP D RGD:6893272|PMID:19943190 20170515 RGD mRNA:decreased expression:cerebral cortex (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9006358 Postoperative Cognitive Dysfunction IEP D RGD:12904023|PMID:23229539 20170515 RGD protein:increased expression:hippocampus (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9008550 Vitamin A Deficiency IEP D RGD:12904026|PMID:22154532 20170515 RGD mRNA:increased expression:liver (rat) 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:7240710 20190918 OMIM 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia PMID:25741868|PMID:28492532|PMID:30915432|PMID:31243445 621539 Ireb2 iron responsive element binding protein 2 gene DOID:9256 colorectal cancer ISO RGD:733858 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621540 Trim9 tripartite motif-containing 9 gene DOID:630 genetic disease ISO RGD:736868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621542 Rad50 RAD50 double strand break repair protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621542 Rad50 RAD50 double strand break repair protein gene DOID:10283 prostate cancer ISO RGD:733899 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 621542 Rad50 RAD50 double strand break repair protein gene DOID:2394 ovarian cancer ISO RGD:733899 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:27783279|PMID:28102005|PMID:28492532|PMID:28550065|PMID:28961279|PMID:29338689|PMID:29891727|PMID:30306255|PMID:30441849|PMID:30982232|PMID:31159747|PMID:31742824|PMID:32566746|PMID:33471991 621542 Rad50 RAD50 double strand break repair protein gene DOID:2661 myoepithelioma ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 621542 Rad50 RAD50 double strand break repair protein gene DOID:2671 transitional cell carcinoma ISO RGD:733899 D RGD:2293511|PMID:16288216 20080909 RGD 621542 Rad50 RAD50 double strand break repair protein gene DOID:2841 asthma ISO RGD:733899 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 621542 Rad50 RAD50 double strand break repair protein gene DOID:3008 invasive ductal carcinoma ISO RGD:733899 D RGD:2300250|PMID:14511253 20080909 RGD 621542 Rad50 RAD50 double strand break repair protein gene DOID:3459 breast carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:19409520|PMID:25741868|PMID:26023681|PMID:28123851|PMID:28492532|PMID:31794323|PMID:31980526|PMID:32658311|PMID:33471991 621542 Rad50 RAD50 double strand break repair protein gene DOID:5082 liver cirrhosis treatment IDA D RGD:9831391|PMID:21893185 20150304 RGD 621542 Rad50 RAD50 double strand break repair protein gene DOID:5426 primary ovarian insufficiency ISO RGD:733899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16385572|PMID:25503501|PMID:25741868|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991 621542 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 621542 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 621542 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29752822|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 621542 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 621542 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991|PMID:34567246 621542 Rad50 RAD50 double strand break repair protein gene DOID:5844 myocardial infarction treatment IDA D RGD:9831390|PMID:15623426 20150304 RGD 621542 Rad50 RAD50 double strand break repair protein gene DOID:630 genetic disease ISO RGD:733899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621542 Rad50 RAD50 double strand break repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:28492532|PMID:29961768|PMID:31159747|PMID:32295079 621542 Rad50 RAD50 double strand break repair protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733899 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621542 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10415333|PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19092773|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25828805|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 621542 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32187176|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 621542 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34572942|PMID:9536098 621542 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:35187501|PMID:35626031|PMID:36035419|PMID:9536098 621542 Rad50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:7240710 20130221 OMIM 621542 Rad50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder PMID:10892749|PMID:14684699|PMID:15855896|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:1887849|PMID:19190165|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19904603|PMID:19917125|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21757780|PMID:21778326|PMID:21811815|PMID:22216297|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27498913|PMID:27782108|PMID:27783279|PMID:27884173|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:29961768|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30680046|PMID:30755392|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32019284|PMID:32077636|PMID:32212377|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:34371384|PMID:9536098 621542 Rad50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms ISO RGD:733899 D RGD:2300220|PMID:16474176 20080909 RGD 621542 Rad50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms treatment ISO RGD:733899 D RGD:9831192|PMID:11373271 20150302 RGD human gene in a rat model 621542 Rad50 RAD50 double strand break repair protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:733899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:24894818|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:28550065|PMID:30306255|PMID:30441849|PMID:31159747|PMID:32566746|PMID:33471991 621543 Chek2 checkpoint kinase 2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:732861 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 621543 Chek2 checkpoint kinase 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26506619 621543 Chek2 checkpoint kinase 2 gene DOID:0060180 colitis ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colitis PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 621543 Chek2 checkpoint kinase 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 621543 Chek2 checkpoint kinase 2 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:24356096|PMID:25318351|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28577310|PMID:30851065|PMID:31206626|PMID:33471991 621543 Chek2 checkpoint kinase 2 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30344923|PMID:32658311|PMID:33471991 621543 Chek2 checkpoint kinase 2 gene DOID:0111252 neurofibromatosis 2 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 621543 Chek2 checkpoint kinase 2 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:732861 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 621543 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621543 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:7240710 20230517 OMIM 621543 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571 621543 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36988593|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 621543 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:734756|PMID:12533788 19990101 RGD DNA:mutations: : 621543 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29700698|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32183364|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346 621543 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34072659|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 621543 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:732861 D RGD:2289707|PMID:17085682 20080207 RGD DNA:mutations: :multiple 621543 Chek2 checkpoint kinase 2 gene DOID:10534 stomach cancer ISO RGD:732861 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12610780|PMID:12909615|PMID:15239132|PMID:15535844|PMID:16199547|PMID:16982735|PMID:17721994|PMID:18004398|PMID:18725978|PMID:21244692|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24506336|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27067391|PMID:27708748|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:28783718|PMID:28888541|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29356917|PMID:29470806|PMID:29479983|PMID:29520813|PMID:29684080|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30680046|PMID:30851065|PMID:30967556|PMID:31056428|PMID:31214711|PMID:31263054|PMID:31360903|PMID:31497750|PMID:31650100|PMID:32029870|PMID:32091409|PMID:32295079|PMID:32427313|PMID:32658311|PMID:32761968|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33558524|PMID:33789101|PMID:34299313|PMID:35643632|PMID:36988593 621543 Chek2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732861 D RGD:2289704|PMID:17918154 20080207 RGD DNA:mutations: :multiple 621543 Chek2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer treatment IEP D RGD:10401655|PMID:21396995 20151006 RGD 621543 Chek2 checkpoint kinase 2 gene DOID:1115 sarcoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15145354|PMID:21876083|PMID:24713400|PMID:25741868|PMID:28492532 621543 Chek2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasms PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22058216|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31409080|PMID:31447099|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33670479|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182 621543 Chek2 checkpoint kinase 2 gene DOID:1520 colon carcinoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14612911|PMID:15087378|PMID:17721994|PMID:18571837|PMID:21244692|PMID:23960188|PMID:24390236|PMID:25186627|PMID:25231023|PMID:25741868|PMID:26467025|PMID:26787654|PMID:27153395|PMID:27443514|PMID:27595995|PMID:27779110|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29335925|PMID:29484706|PMID:29522266|PMID:29875428|PMID:29987844|PMID:30303537|PMID:30322893|PMID:30613976|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31214250|PMID:31220302|PMID:31409080|PMID:31512090|PMID:31811167|PMID:33134171|PMID:33558524 621543 Chek2 checkpoint kinase 2 gene DOID:1588 thrombocytopenia ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32830346|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34903604|PMID:35264596|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:2289703|PMID:18085035 20080207 RGD DNA:missense mutations:p.I157T and p.S428F 621543 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:2289706|PMID:17145815 20080207 RGD DNA:loss of heterozygosity 621543 Chek2 checkpoint kinase 2 gene DOID:1614 male breast cancer no_association ISO RGD:732861 D RGD:2289705|PMID:17661168 20080207 RGD DNA:deletion: :1100delC 621543 Chek2 checkpoint kinase 2 gene DOID:1614 male breast cancer susceptibility ISO RGD:732861 D RGD:1599601|PMID:11967536 20080207 RGD DNA:deletion: :1100delC 621543 Chek2 checkpoint kinase 2 gene DOID:1909 melanoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:19030985|PMID:21876083|PMID:22058216|PMID:23296741|PMID:24713400|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30927251|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33726816|PMID:34308366|PMID:34570182 621543 Chek2 checkpoint kinase 2 gene DOID:1967 leiomyosarcoma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leiomyosarcoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 621543 Chek2 checkpoint kinase 2 gene DOID:2154 nephroblastoma ISO RGD:732861 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10617473|PMID:11719428|PMID:11967536|PMID:15492928|PMID:18759107|PMID:19030985|PMID:20722467|PMID:21244692|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22520019|PMID:22691310|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23409019|PMID:23415889|PMID:24723567|PMID:26822237 621543 Chek2 checkpoint kinase 2 gene DOID:219 colon cancer ISO RGD:732861 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:15095295|PMID:21244692|PMID:22114986|PMID:22419737|PMID:22862163|PMID:23552953|PMID:24595525|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26787654|PMID:26845104|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28495237|PMID:28944238|PMID:29368341|PMID:29520813|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31341520|PMID:31398194|PMID:31784482|PMID:32227564|PMID:32830346|PMID:33471991|PMID:36136322 621543 Chek2 checkpoint kinase 2 gene DOID:2394 ovarian cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:17145815|PMID:21153778|PMID:21681852|PMID:21876083|PMID:24713400|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:27039729|PMID:27510020|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:30851065|PMID:31398194|PMID:31589614|PMID:32658311|PMID:32885271|PMID:32923906|PMID:33471991|PMID:34371384|PMID:34903604 621543 Chek2 checkpoint kinase 2 gene DOID:2871 endometrial carcinoma ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:17576681|PMID:19030985|PMID:21876083|PMID:22058216|PMID:22114986|PMID:23296741|PMID:24713400|PMID:25186627|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26094658|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29785007|PMID:29902706|PMID:29958926|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31422574|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32885271|PMID:32906215|PMID:33050356|PMID:33077847|PMID:33726816|PMID:34308366|PMID:34570182|PMID:35155181|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10617473|PMID:11719428 621543 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:19338683|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32906215 621543 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:33471991 621543 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:35643632|PMID:36988593 621543 Chek2 checkpoint kinase 2 gene DOID:3070 high grade glioma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 621543 Chek2 checkpoint kinase 2 gene DOID:3168 squamous cell neoplasm ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 621543 Chek2 checkpoint kinase 2 gene DOID:3308 embryonal carcinoma ISO RGD:732861 D RGD:2298484|PMID:11593395 20080701 RGD protein:decreased expression:testis 621543 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11746983 621543 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:7240710 20230517 OMIM 621543 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34299313|PMID:34308366 621543 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 621543 Chek2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816 621543 Chek2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:33986034|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36988593 621543 Chek2 checkpoint kinase 2 gene DOID:3459 breast carcinoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15810020|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25452411|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26084796|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27039729|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27443514|PMID:27510020|PMID:27616075|PMID:27621404|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30580288|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30980208|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31843900|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32885271|PMID:32900738|PMID:32906215|PMID:33077847|PMID:33471991|PMID:33558524|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34308366|PMID:34433815|PMID:34570182|PMID:34903604|PMID:35220195|PMID:36136322|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732861 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21876083|PMID:24713400|PMID:28492532 621543 Chek2 checkpoint kinase 2 gene DOID:4440 seminoma ISO RGD:732861 D RGD:2298484|PMID:11593395 20080701 RGD protein:decreased expression:testis 621543 Chek2 checkpoint kinase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16794575|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29785007|PMID:29909568|PMID:30128536|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:31300551|PMID:31422574|PMID:31843900|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32860008|PMID:32906215|PMID:33050356|PMID:33471991|PMID:35155181|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20713355|PMID:22114986|PMID:25503501|PMID:25619829|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27553368|PMID:27751358|PMID:28492532|PMID:29522266|PMID:29922827|PMID:30441849|PMID:30613976|PMID:30851065|PMID:31398194|PMID:32183364|PMID:32957588|PMID:33471991|PMID:33919281|PMID:33925588|PMID:34072659|PMID:34903604 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30851065|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:35155181|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:35264596|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34404389|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823 621543 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 621543 Chek2 checkpoint kinase 2 gene DOID:6000 congestive heart failure ISO RGD:732861 D RGD:2289708|PMID:12702777 20080207 RGD protein:increased phosphorylation:heart myocardium 621543 Chek2 checkpoint kinase 2 gene DOID:630 genetic disease ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12052256|PMID:16199547|PMID:21876083|PMID:22419737|PMID:24713400|PMID:25741868|PMID:26206375|PMID:26467025|PMID:28492532|PMID:28779002 621543 Chek2 checkpoint kinase 2 gene DOID:769 neuroblastoma ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 621543 Chek2 checkpoint kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621543 Chek2 checkpoint kinase 2 gene DOID:9000357 Male Breast Neoplasms ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11967536 621543 Chek2 checkpoint kinase 2 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:12454775|PMID:12533788|PMID:15095295|PMID:15239132|PMID:15818573|PMID:16835864|PMID:16941491|PMID:16982735|PMID:18058223|PMID:18996005|PMID:19782031|PMID:21059199|PMID:21244692|PMID:21744992|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24713400|PMID:25186627|PMID:25318351|PMID:25525159|PMID:25629968|PMID:25741868|PMID:26467025|PMID:26506619|PMID:26580448|PMID:26787654|PMID:26976419|PMID:27595995|PMID:27616075|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29520813|PMID:29522266|PMID:29752822|PMID:30086788|PMID:30287823|PMID:30303537|PMID:30826992|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31614935|PMID:31780696|PMID:32566746|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33692755|PMID:34711244|PMID:34903604|PMID:35980532 621543 Chek2 checkpoint kinase 2 gene DOID:9000918 Disease Progression ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621543 Chek2 checkpoint kinase 2 gene DOID:9002265 Kidney Neoplasms onset IEP D RGD:10401643|PMID:22411272 20151006 RGD protein:increased phosphorylation:kidney outer medulla outer stripe (rat) 621543 Chek2 checkpoint kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12533788 621543 Chek2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:2289706|PMID:17145815 20080207 RGD DNA:loss of heterozygosity 621543 Chek2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:2298482|PMID:16828850 20080701 RGD DNA:missense mutation:cds:p.I157T 621543 Chek2 checkpoint kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16794575|PMID:21244692|PMID:22419737|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27751358|PMID:28486781|PMID:28492532|PMID:28580595|PMID:30128536|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:32068069|PMID:32658311|PMID:32860008|PMID:33050356|PMID:33471991 621543 Chek2 checkpoint kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732861 D RGD:2296067|PMID:18299147 20080627 RGD 621543 Chek2 checkpoint kinase 2 gene DOID:9004265 Endometrioid Carcinomas susceptibility ISO RGD:732861 D RGD:2293868|PMID:17164260 20080701 RGD 621543 Chek2 checkpoint kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 621543 Chek2 checkpoint kinase 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12533788 621543 Chek2 checkpoint kinase 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:27083775|PMID:28492532|PMID:30128536|PMID:31844177|PMID:32805687|PMID:33471991 621543 Chek2 checkpoint kinase 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732861 D RGD:2298483|PMID:11875739 20080701 RGD DNA:polymorphism:cds:252A>G 621543 Chek2 checkpoint kinase 2 gene DOID:9006646 Metabolic Syndrome IEP D RGD:10400905|PMID:25129990 20151006 RGD mRNA:increased expression:heart left ventricle (rat) 621543 Chek2 checkpoint kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243|PMID:28492532 621543 Chek2 checkpoint kinase 2 gene DOID:9006911 Congenital Heart Defects, Multiple Types, 3 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:29922827|PMID:30287823|PMID:30303537|PMID:32658311|PMID:33558524|PMID:34299313|PMID:36988593 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33986034|PMID:34008015|PMID:34371384|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940 621543 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy PMID:28492532 621543 Chek2 checkpoint kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12690581 621543 Chek2 checkpoint kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732861 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11967536|PMID:12690581|PMID:15122511|PMID:18297428 621543 Chek2 checkpoint kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732861 D RGD:1599601|PMID:11967536 20070208 RGD DNA:deletion: ;1100delC 621543 Chek2 checkpoint kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16880452|PMID:16883537|PMID:16914568|PMID:17085682|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23318652|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24506336|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27806230|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29667044|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31472684|PMID:31742824|PMID:31784482|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32805687|PMID:32830346|PMID:32885271|PMID:33471974|PMID:33471991|PMID:34308366|PMID:34622392|PMID:35264596|PMID:36136322 621543 Chek2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11733767|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20307669|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22406018|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237 621543 Chek2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33260537|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 621543 Chek2 checkpoint kinase 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:7240710 20230517 OMIM 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30976395|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 621543 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732861 D RGD:2289706|PMID:17145815 20080207 RGD DNA:loss of heterozygosity 621543 Chek2 checkpoint kinase 2 gene DOID:9460 uterine corpus cancer ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:21876083|PMID:24713400|PMID:28492532 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:1347400 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:1347400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:1347400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1470 major depressive disorder ISO RGD:1347400 D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder IEP D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:1347400 D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:630 genetic disease ISO RGD:1347400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:1347400 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1347400 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 621544 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1347400 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 621545 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736668 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 621545 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:3883 Lynch syndrome ISO RGD:736668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 621545 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:630 genetic disease ISO RGD:736668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621545 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:7240710 20161019 OMIM 621545 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:24389050|PMID:25558065|PMID:25741868|PMID:27250922|PMID:31101064 621546 Tpm3 tropomyosin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 621546 Tpm3 tropomyosin 3 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:7240710 20200619 OMIM 621546 Tpm3 tropomyosin 3 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:30768849 621546 Tpm3 tropomyosin 3 gene DOID:0080102 congenital fiber-type disproportion ISO RGD:1605427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:30768849|PMID:35688744 621546 Tpm3 tropomyosin 3 gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:7240710 20130425 OMIM 621546 Tpm3 tropomyosin 3 gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive PMID:10587521|PMID:10619715|PMID:11106625|PMID:11964245|PMID:12163017|PMID:12163190|PMID:12196661|PMID:1221488|PMID:12467750|PMID:15562513|PMID:16199547|PMID:17376686|PMID:17576681|PMID:18300303|PMID:18382475|PMID:18716557|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20012312|PMID:20179953|PMID:20301436|PMID:20301465|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24239060|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25326635|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:27858751|PMID:28492532|PMID:30768849|PMID:32860008|PMID:33124102|PMID:35688744|PMID:7663526|PMID:7704029|PMID:9536098 621546 Tpm3 tropomyosin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621546 Tpm3 tropomyosin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621546 Tpm3 tropomyosin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 621546 Tpm3 tropomyosin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605427 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621546 Tpm3 tropomyosin 3 gene DOID:299 adenocarcinoma ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 621546 Tpm3 tropomyosin 3 gene DOID:305 carcinoma ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 621546 Tpm3 tropomyosin 3 gene DOID:3191 nemaline myopathy ISO RGD:1605427 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 621546 Tpm3 tropomyosin 3 gene DOID:3191 nemaline myopathy susceptibility ISO RGD:1554150 D RGD:1600404|PMID:7704029 20070307 RGD DNA:missense mutation 621546 Tpm3 tropomyosin 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605427 D RGD:13792605|PMID:28677753 20180917 RGD mRNA:increased expression:thyroid 621546 Tpm3 tropomyosin 3 gene DOID:422 congenital structural myopathy ISO RGD:1605427 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism 621546 Tpm3 tropomyosin 3 gene DOID:422 congenital structural myopathy ISO RGD:1605427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:28492532|PMID:35688744 621546 Tpm3 tropomyosin 3 gene DOID:423 myopathy ISO RGD:1605427 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 621546 Tpm3 tropomyosin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621546 Tpm3 tropomyosin 3 gene DOID:630 genetic disease ISO RGD:1605427 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:27363342|PMID:28492532 621546 Tpm3 tropomyosin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 621546 Tpm3 tropomyosin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 621546 Tpm3 tropomyosin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621546 Tpm3 tropomyosin 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19369484 621546 Tpm3 tropomyosin 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 621546 Tpm3 tropomyosin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1605427 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 621546 Tpm3 tropomyosin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605427 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621547 Bik BCL2-interacting killer gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347683 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 621547 Bik BCL2-interacting killer gene DOID:10283 prostate cancer ISO RGD:1347683 D RGD:14394816|PMID:14633680 20190401 RGD 621547 Bik BCL2-interacting killer gene DOID:1059 intellectual disability ISO RGD:1347683 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621547 Bik BCL2-interacting killer gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:1347683 D RGD:14394817|PMID:19898928 20190401 RGD DNA:deletion:intron:IVS4-12delTC(human) 621547 Bik BCL2-interacting killer gene DOID:1612 breast cancer ISO RGD:1347683 D RGD:14394816|PMID:14633680 20190401 RGD 621547 Bik BCL2-interacting killer gene DOID:219 colon cancer treatment ISO RGD:1347683 D RGD:14394819|PMID:17636408 20190401 RGD 621547 Bik BCL2-interacting killer gene DOID:4450 renal cell carcinoma ISO RGD:1347683 D RGD:14394818|PMID:16322756 20190401 RGD protein:decreased expression:kidney 621547 Bik BCL2-interacting killer gene DOID:630 genetic disease ISO RGD:1347683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621547 Bik BCL2-interacting killer gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347683 D RGD:14394820|PMID:16865775 20190402 RGD associated with cholangiocarcinoma;DNA:CNV:: 621547 Bik BCL2-interacting killer gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1347683 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISS RGD:1551787 D RGD:13592920 20180518 MouseDO 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:7240710 20141015 OMIM 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder PMID:24193349|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532|PMID:29158550|PMID:29573576 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346592 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:1346592 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27598823|PMID:28135719|PMID:28283832|PMID:29573576 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1346592 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:1346592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346592 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346592 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9008086 Developmental Disabilities ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 621548 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346592 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621549 Gas5 growth arrest specific 5 gene DOID:0060319 cardiac arrest IEP D RGD:155882547|PMID:30824348 20230130 RGD RNA:increased expression:hippocampus, cortex; 621549 Gas5 growth arrest specific 5 gene DOID:0060319 cardiac arrest ameliorates IMP D RGD:155882547|PMID:30824348 20230130 RGD 621549 Gas5 growth arrest specific 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1346877 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621549 Gas5 growth arrest specific 5 gene DOID:3755 antithrombin III deficiency ISO RGD:1346877 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 621549 Gas5 growth arrest specific 5 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 621549 Gas5 growth arrest specific 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:1346877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621549 Gas5 growth arrest specific 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 621549 Gas5 growth arrest specific 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346877 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621550 Gas7 growth arrest specific 7 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1349821 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 621550 Gas7 growth arrest specific 7 gene DOID:630 genetic disease ISO RGD:1349821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621550 Gas7 growth arrest specific 7 gene DOID:9970 obesity ISO RGD:1349821 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 621551 Cyb5b cytochrome b5 type B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 621551 Cyb5b cytochrome b5 type B gene DOID:630 genetic disease ISO RGD:735287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621552 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 621552 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:0080600 COVID-19 ISO RGD:1351850 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621552 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 621552 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351850 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621552 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:630 genetic disease ISO RGD:1351850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621553 Ccn3 cellular communication network factor 3 gene DOID:0080600 COVID-19 ISO RGD:732996 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621553 Ccn3 cellular communication network factor 3 gene DOID:10534 stomach cancer severity ISO RGD:732996 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 621553 Ccn3 cellular communication network factor 3 gene DOID:10591 pre-eclampsia ISO RGD:732996 D RGD:1580971|PMID:16675545 19990101 RGD protein:decreased expression:placenta (human) 621553 Ccn3 cellular communication network factor 3 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732996 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 621553 Ccn3 cellular communication network factor 3 gene DOID:206 hereditary multiple exostoses ISO RGD:732996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 621553 Ccn3 cellular communication network factor 3 gene DOID:2843 long QT syndrome ISO RGD:732996 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 621554 Hspb6 heat shock protein family B (small) member 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 621554 Hspb6 heat shock protein family B (small) member 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 621554 Hspb6 heat shock protein family B (small) member 6 gene DOID:114 heart disease ISO RGD:1343256 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18948619 621554 Hspb6 heat shock protein family B (small) member 6 gene DOID:543 dystonia ISO RGD:1343256 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 621554 Hspb6 heat shock protein family B (small) member 6 gene DOID:630 genetic disease ISO RGD:1343256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621554 Hspb6 heat shock protein family B (small) member 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343256 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18948619 621555 Phf5a PHD finger protein 5A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621555 Phf5a PHD finger protein 5A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348043 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344188 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1344188 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:1059 intellectual disability ISO RGD:1344188 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:630 genetic disease ISO RGD:1344188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:7240710 20171011 OMIM 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1344188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10947204 621556 Aldh6a1 aldehyde dehydrogenase 6 family, member A1 gene DOID:9970 obesity ISO RGD:1344188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733521 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050771 pheochromocytoma ISO RGD:733521 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:16199547|PMID:22974104|PMID:24781757|PMID:25741868|PMID:26556299|PMID:28492532|PMID:29177515|PMID:30877234 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050773 paraganglioma ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28724664|PMID:28873162|PMID:30201732|PMID:30680959|PMID:31527833 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050773 paraganglioma ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:733521 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:11423010|PMID:15989954|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23109135|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25741868|PMID:26198225|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0080000 muscular disease ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:28384794|PMID:28492532 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy ISO RGD:733521 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy PMID:25741868|PMID:28492532 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0110435 dilated cardiomyopathy 1GG ISO RGD:733521 D RGD:7240710 20180418 OMIM 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0110435 dilated cardiomyopathy 1GG ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG PMID:10976639|PMID:12794685|PMID:15989954|PMID:16798039|PMID:20551992|PMID:22904323|PMID:24033266|PMID:25741868|PMID:26198225|PMID:26467025|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:10283 prostate cancer ISO RGD:733521 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:28492532 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:733521 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:14330 Parkinson's disease ISO RGD:733521 D RGD:13504667|PMID:26605748 20180116 RGD protein:decreased expression:substantia nigra, neuron 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3247 rhabdomyosarcoma ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10746566|PMID:15989954|PMID:20484225|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:26722403|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:724604|PMID:7550341 19990101 RGD DNA:missense mutation:cds:p.R554W (human) 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:7550341 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:35059314|PMID:7550341 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31666924|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733521 D RGD:150340558|PMID:25576295 20210815 RGD DNA:SNP: 3'utr (rs13173911) (human) 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:423 myopathy ISO RGD:733521 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:28384794|PMID:28492532 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:4455 hereditary renal cell carcinoma ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:28546994|PMID:30680959|PMID:31527833 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:4851 pilocytic astrocytoma ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:630 genetic disease ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10976639|PMID:15989954|PMID:22904323|PMID:23612575|PMID:25741868|PMID:26198225|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515|PMID:33397040 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:8398 osteoarthritis ISO RGD:733521 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:24033266|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome PMID:22955521|PMID:22974104|PMID:24781757|PMID:25720320|PMID:25741868|PMID:28492532|PMID:29177515|PMID:29978154|PMID:30854332|PMID:30877234|PMID:31589614|PMID:31981491|PMID:32581362|PMID:33854214 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9002091 Paragangliomas 5 ISO RGD:733521 D RGD:7240710 20140911 OMIM 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9002091 Paragangliomas 5 ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paragangliomas 5 PMID:10746566|PMID:11423010|PMID:15989954|PMID:17298551|PMID:17376234|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25405498|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26689913|PMID:26722403|PMID:27011036|PMID:27390349|PMID:27493882|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28750076|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30680959|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32461654|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34711244|PMID:35014173|PMID:35059314 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:733521 D RGD:7240710 20210203 OMIM 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32461654|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34711244|PMID:35014173|PMID:35059314|PMID:36315513|PMID:7550341|PMID:8967754|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:733521 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:30201732|PMID:30680959|PMID:31527833|PMID:32462735|PMID:34014604|PMID:35059314 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9006014 Peritoneal Adhesions IEP D RGD:13825244|PMID:22569713 20181130 RGD mRNA:increased expression:peritoneum 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29872718|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31413764|PMID:31527833|PMID:32971818|PMID:7550341|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32581362|PMID:32741965|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34711244|PMID:7550341|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32326906|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33854214|PMID:33960148|PMID:34711244|PMID:35059314|PMID:7550341|PMID:8967754|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32326906|PMID:32461654|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34711244|PMID:35014173|PMID:35059314|PMID:36315513|PMID:7550341|PMID:8967754|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007098 Pulmonary Atresia ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007167 Carney Triad ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carney triad PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007959 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy ISO RGD:733521 D RGD:7240710 20210414 OMIM 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007959 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy PMID:10976639|PMID:16199547|PMID:21752896|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25394176|PMID:25720320|PMID:25741868|PMID:26198225|PMID:26467025|PMID:27011036|PMID:27683074|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:29177515|PMID:30050099|PMID:30877234|PMID:33397043|PMID:8967754 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098 621557 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33397040|PMID:33674644|PMID:33960148|PMID:35059314|PMID:8967754|PMID:9536098 621558 Vamp7 vesicle-associated membrane protein 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 621558 Vamp7 vesicle-associated membrane protein 7 gene DOID:11166 papillomavirus infectious disease ISO RGD:1350434 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 621558 Vamp7 vesicle-associated membrane protein 7 gene DOID:12849 autistic disorder ISO RGD:1350434 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621558 Vamp7 vesicle-associated membrane protein 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350434 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 621558 Vamp7 vesicle-associated membrane protein 7 gene DOID:9002720 Splenomegaly ISO RGD:1350434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 621559 Kif5b kinesin family member 5B gene DOID:1059 intellectual disability ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 621559 Kif5b kinesin family member 5B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21757253 621559 Kif5b kinesin family member 5B gene DOID:630 genetic disease ISO RGD:1344841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621559 Kif5b kinesin family member 5B gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11059542|PMID:23776493 20160415 RGD mRNA:increased expression:hippocampus 621559 Kif5b kinesin family member 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621559 Kif5b kinesin family member 5B gene DOID:9351 diabetes mellitus ISO RGD:1344841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 621561 Myo16 myosin XVI gene DOID:10283 prostate cancer ISO RGD:1604637 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621561 Myo16 myosin XVI gene DOID:2222 factor X deficiency ISO RGD:1604637 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 621561 Myo16 myosin XVI gene DOID:630 genetic disease ISO RGD:1604637 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621561 Myo16 myosin XVI gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604637 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 621562 Ubb ubiquitin B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344008 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22994484 621562 Ubb ubiquitin B gene DOID:630 genetic disease ISO RGD:1344008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621564 Gabrr3 gamma-aminobutyric acid type A receptor subunit rho3 gene DOID:630 genetic disease ISO RGD:1352541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621565 Plb1 phospholipase B1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 621565 Plb1 phospholipase B1 gene DOID:10283 prostate cancer ISO RGD:1346755 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621565 Plb1 phospholipase B1 gene DOID:630 genetic disease ISO RGD:1346755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621565 Plb1 phospholipase B1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24520335 621566 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:7240710 20141015 OMIM 621566 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scalp-ear-nipple syndrome PMID:10517259|PMID:16411189|PMID:1799422|PMID:23541344|PMID:25741868|PMID:28492532|PMID:8042668|PMID:9383029 621566 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 621566 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1352985 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621567 Atxn3 ataxin 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1606333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:31378764 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:11557998|PMID:9804376 20161104 RGD protein:increased degradation, altered localization:neuron, nucleus 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:11558010|PMID:18841197 20161107 RGD 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:5131159|PMID:18385100 20161107 RGD 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:7240710 20130221 OMIM 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:8554872 20151110 ClinVar ClinVar Annotator: match by term: Azorean disease 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease susceptibility ISO RGD:1606333 D RGD:1599419|PMID:7874163 20070201 RGD 621567 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease treatment ISO RGD:1606333 D RGD:11557997|PMID:20308049 20161104 RGD 621567 Atxn3 ataxin 3 gene DOID:630 genetic disease ISO RGD:1606333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621567 Atxn3 ataxin 3 gene DOID:9002695 Cataplexy ISO RGD:1606333 D RGD:1358427|PMID:15128861 20150305 RGD 621567 Atxn3 ataxin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1606333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9635424 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:7240710 20130221 OMIM 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency PMID:10610716|PMID:11241842|PMID:12638942|PMID:16199547|PMID:16951918|PMID:17576681|PMID:20560208|PMID:21893389|PMID:22565078|PMID:23681708|PMID:23707712|PMID:24033266|PMID:24164096|PMID:24355074|PMID:24614645|PMID:25741868|PMID:26075876|PMID:26467025|PMID:26945816|PMID:27411168|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29140481|PMID:29358611|PMID:29379059|PMID:29692406|PMID:3037247|PMID:30525581|PMID:30815900|PMID:31680123|PMID:32449975|PMID:32627310|PMID:32706452|PMID:32875576|PMID:34240417|PMID:8955159|PMID:9128814|PMID:9536098 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0060224 atrial fibrillation ISO RGD:734135 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:734135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734135 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:7240710 20141015 OMIM 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY PMID:16199547|PMID:22703880|PMID:24033266|PMID:24164096|PMID:24355074|PMID:25326635|PMID:25578555|PMID:25741868|PMID:25847462|PMID:26467025|PMID:26526000|PMID:27026573|PMID:27723502|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29169047|PMID:29358611|PMID:30291339|PMID:32449975|PMID:34240417 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:10316 pneumoconiosis ISO RGD:734135 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:1927 sphingolipidosis susceptibility ISO RGD:734135 D RGD:734977|PMID:11241842 20070123 RGD 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:630 genetic disease ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22565078|PMID:24355074|PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406|PMID:3037247|PMID:30525581 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9000058 Keloid ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28492532|PMID:28905881 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:734135 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 621568 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9455 lipid storage disease ISO RGD:734135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 621569 Hemgn hemogen gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 621569 Hemgn hemogen gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 621569 Hemgn hemogen gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 621569 Hemgn hemogen gene DOID:1059 intellectual disability ISO RGD:1351335 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621569 Hemgn hemogen gene DOID:12712 nephronophthisis ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 621569 Hemgn hemogen gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 621569 Hemgn hemogen gene DOID:630 genetic disease ISO RGD:1351335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621569 Hemgn hemogen gene DOID:9001793 Generalized Epilepsy ISO RGD:1351335 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 621570 Npffr1 neuropeptide FF receptor 1 gene DOID:630 genetic disease ISO RGD:1351737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621571 Serinc5 serine incorporator 5 gene DOID:630 genetic disease ISO RGD:1604715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621571 Serinc5 serine incorporator 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604715 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621572 Foxq1 forkhead box Q1 gene DOID:630 genetic disease ISO RGD:732997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621572 Foxq1 forkhead box Q1 gene DOID:9008939 Breast Neoplasms ISO RGD:732997 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27129776 621573 Pga5 pepsinogen A5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621573 Pga5 pepsinogen A5 gene DOID:1059 intellectual disability ISO RGD:1350538 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621573 Pga5 pepsinogen A5 gene DOID:11963 esophagitis ISO RGD:1350538 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12928072 621573 Pga5 pepsinogen A5 gene DOID:630 genetic disease ISO RGD:1350538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621574 Tsnax translin-associated factor X gene DOID:1540 parathyroid carcinoma ISO RGD:1346427 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621574 Tsnax translin-associated factor X gene DOID:630 genetic disease ISO RGD:1346427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621574 Tsnax translin-associated factor X gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 621574 Tsnax translin-associated factor X gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346427 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:0080600 COVID-19 ISO RGD:732557 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:0080855 Parkinsonism ISO RGD:732557 D RGD:13504672|PMID:24825319 20180116 RGD 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:10283 prostate cancer ISO RGD:732557 D RGD:13504673|PMID:28977864 20180116 RGD DNA:SNP: :rs7250897 (human) 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:11832 visual epilepsy treatment IDA D RGD:10003051|PMID:17893921 20150430 RGD 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:14330 Parkinson's disease ISO RGD:732557 D RGD:13504672|PMID:24825319 20180116 RGD 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:1826 epilepsy ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:5844 myocardial infarction ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:630 genetic disease ISO RGD:732557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:699 mitochondrial myopathy ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732557 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:10003054|PMID:19634143 20150430 RGD protein:increased expression:kidney 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 621575 Vdac1 voltage-dependent anion channel 1 gene DOID:9008514 Psychomotor Disorders ISO RGD:732557 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:11832 visual epilepsy treatment IDA D RGD:10003051|PMID:17893921 20150430 RGD 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:1826 epilepsy ISO RGD:731822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:3328 temporal lobe epilepsy IEP D RGD:10003053|PMID:18186018 20150430 RGD protein:increased expression:hippocampus 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:5844 myocardial infarction treatment IDA D RGD:10003049|PMID:20601275 20150430 RGD 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:630 genetic disease ISO RGD:731822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:8398 osteoarthritis ISO RGD:731822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 621576 Vdac2 voltage-dependent anion channel 2 gene DOID:9007730 Burns IEP D RGD:10003047|PMID:23863682 20150430 RGD 621577 Vdac3 voltage-dependent anion channel 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:733844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 621577 Vdac3 voltage-dependent anion channel 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:733844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 621577 Vdac3 voltage-dependent anion channel 3 gene DOID:630 genetic disease ISO RGD:733844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621577 Vdac3 voltage-dependent anion channel 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733844 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 621578 Nolc1 nucleolar and coiled-body phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621579 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1348719 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 621579 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348719 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621579 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:630 genetic disease ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621579 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348719 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621579 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 621580 Rnase3 ribonuclease A family member 3 gene DOID:0080600 COVID-19 ISO RGD:1352667 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621580 Rnase3 ribonuclease A family member 3 gene DOID:2841 asthma ISO RGD:1352667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8874658|PMID:12153692|PMID:12587966 621580 Rnase3 ribonuclease A family member 3 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1352667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 621580 Rnase3 ribonuclease A family member 3 gene DOID:630 genetic disease ISO RGD:1352667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621580 Rnase3 ribonuclease A family member 3 gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:1352667 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21696142 621580 Rnase3 ribonuclease A family member 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352667 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621580 Rnase3 ribonuclease A family member 3 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:1352667 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21696142 621581 Per3 period circadian regulator 3 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1352533 D RGD:1358557|PMID:11306557 19990101 RGD DNA:missense mutations:cds:multiple (human) 621581 Per3 period circadian regulator 3 gene DOID:0060001 withdrawal disorder ISO RGD:1352533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 621581 Per3 period circadian regulator 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621581 Per3 period circadian regulator 3 gene DOID:0080600 COVID-19 ISO RGD:1352533 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621581 Per3 period circadian regulator 3 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:1352533 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 621581 Per3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:7240710 20190315 OMIM 621581 Per3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:8554872 20170815 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 PMID:25741868|PMID:26903630 621581 Per3 period circadian regulator 3 gene DOID:630 genetic disease ISO RGD:1352533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621581 Per3 period circadian regulator 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 621581 Per3 period circadian regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352533 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621581 Per3 period circadian regulator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1352533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20625127 621582 Sub1 SUB1 regulator of transcription gene DOID:630 genetic disease ISO RGD:1605698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621582 Sub1 SUB1 regulator of transcription gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605698 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:1059 intellectual disability ISO RGD:734223 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:4257 Caffey disease ISO RGD:734223 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:20971946 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:630 genetic disease ISO RGD:734223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:8584 Burkitt lymphoma ISO RGD:734223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11482875 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:734223 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:9005170 polyagglutination ISO RGD:734223 D RGD:7240710 20230505 OMIM 621583 A4galt alpha 1,4-galactosyltransferase (P blood group) gene DOID:9005651 NOR POLYAGGLUTINATION SYNDROME ISO RGD:734223 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOR polyagglutination syndrome PMID:22965229|PMID:7072192|PMID:9920164 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:734318 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:14701 propionic acidemia ISO RGD:734318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:630 genetic disease ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:7240710 20210324 OMIM 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay PMID:25414442|PMID:25525876|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33586135 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:734318 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:9004484 Sepsis IEP D RGD:634435|PMID:12147224 20211214 RGD mRNA, protein:increased expression, increased activity:extensor digitorum longus (rat) 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734318 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:33586135 621584 Tpp2 tripeptidyl peptidase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:16199547|PMID:17576681|PMID:25414442|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33583942|PMID:33586135|PMID:9536098 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:0050572 cone-rod dystrophy ISO RGD:1345518 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28794130 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:10584 retinitis pigmentosa ISO RGD:1345518 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:28794130|PMID:32214227 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:1059 intellectual disability ISO RGD:1345518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:1059 intellectual disability ISO RGD:1345518 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:28794130 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:2717 Bloom syndrome ISO RGD:1345518 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:5419 schizophrenia ISO RGD:1345518 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:630 genetic disease ISO RGD:1345518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:7240710 20200115 OMIM 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA PMID:25741868|PMID:28492532|PMID:28794130|PMID:32214227 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:9256 colorectal cancer ISO RGD:1345518 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621585 Scaper S-phase cyclin A-associated protein in the ER gene DOID:9970 obesity ISO RGD:1345518 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:30723319 621586 Nrn1 neuritin 1 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1351872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 621586 Nrn1 neuritin 1 gene DOID:630 genetic disease ISO RGD:1351872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621587 Trim23 tripartite motif-containing 23 gene DOID:630 genetic disease ISO RGD:1606340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621587 Trim23 tripartite motif-containing 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606340 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621588 Nrp1 neuropilin 1 gene DOID:1727 retinal vein occlusion ISS RGD:1552955 D RGD:13592920 20180518 MouseDO 621588 Nrp1 neuropilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15956974 621588 Nrp1 neuropilin 1 gene DOID:289 endometriosis ISO RGD:733081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 621588 Nrp1 neuropilin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733081 D RGD:126925188|PMID:25561764 20210513 RGD DNA, protein:CNVs, increased expression:lung 621588 Nrp1 neuropilin 1 gene DOID:409 liver disease ISO RGD:733081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 621588 Nrp1 neuropilin 1 gene DOID:630 genetic disease ISO RGD:733081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621588 Nrp1 neuropilin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733081 D RGD:126848812|PMID:25333267 20210504 RGD protein:decreased expression:liver 621588 Nrp1 neuropilin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733081 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621588 Nrp1 neuropilin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552955 D RGD:2313725|PMID:16816123 20091012 RGD mRNA:decreased expression:skeletal muscle 621589 Gak cyclin G associated kinase gene DOID:14330 Parkinson's disease ISO RGD:731643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 621589 Gak cyclin G associated kinase gene DOID:1856 cherubism ISO RGD:731643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 621589 Gak cyclin G associated kinase gene DOID:630 genetic disease ISO RGD:731643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621589 Gak cyclin G associated kinase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:731643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 621590 Taok2 TAO kinase 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 621590 Taok2 TAO kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351729 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 621590 Taok2 TAO kinase 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1351729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 621590 Taok2 TAO kinase 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1351729 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 621590 Taok2 TAO kinase 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 621590 Taok2 TAO kinase 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1351729 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 621590 Taok2 TAO kinase 2 gene DOID:12849 autistic disorder ISO RGD:1351729 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 621590 Taok2 TAO kinase 2 gene DOID:1882 atrial heart septal defect ISO RGD:1351729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 621590 Taok2 TAO kinase 2 gene DOID:5419 schizophrenia ISO RGD:1351729 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621590 Taok2 TAO kinase 2 gene DOID:630 genetic disease ISO RGD:1351729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621590 Taok2 TAO kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 621590 Taok2 TAO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351729 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621590 Taok2 TAO kinase 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 621590 Taok2 TAO kinase 2 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1351729 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 621591 Coro7 coronin 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 621591 Coro7 coronin 7 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1351326 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 621591 Coro7 coronin 7 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1351326 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868 621591 Coro7 coronin 7 gene DOID:1682 congenital heart disease ISO RGD:1351326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 621591 Coro7 coronin 7 gene DOID:1826 epilepsy ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 621591 Coro7 coronin 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351326 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 621591 Coro7 coronin 7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 621591 Coro7 coronin 7 gene DOID:630 genetic disease ISO RGD:1351326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621591 Coro7 coronin 7 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1351326 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 621592 Syf2 SYF2 pre-mRNA-splicing factor gene DOID:630 genetic disease ISO RGD:1603674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621592 Syf2 SYF2 pre-mRNA-splicing factor gene DOID:9588 encephalitis IEP D RGD:10059414|PMID:24301298 20150817 RGD 621593 Ndrg4 NDRG family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621593 Ndrg4 NDRG family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621593 Ndrg4 NDRG family member 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621593 Ndrg4 NDRG family member 4 gene DOID:224 transient cerebral ischemia ISO RGD:1332043 D RGD:7247728|PMID:21636852 20130729 RGD 621593 Ndrg4 NDRG family member 4 gene DOID:3068 glioblastoma ISO RGD:1353588 D RGD:7247726|PMID:22489821 20130729 RGD mRNA, protein:decreased expression:brain 621593 Ndrg4 NDRG family member 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:1353588 D RGD:7247727|PMID:22399192 20130729 RGD protein:decreased expression:brain 621593 Ndrg4 NDRG family member 4 gene DOID:630 genetic disease ISO RGD:1353588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621593 Ndrg4 NDRG family member 4 gene DOID:687 hepatoblastoma ISO RGD:1353588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 621594 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:increased expression:forebrain, postsynaptic density 621594 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:630 genetic disease ISO RGD:733160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621594 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:9000688 Developmental and Epileptic Encephalopathy 96 ISO RGD:733160 D RGD:7240710 20210616 OMIM 621594 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:9000688 Developmental and Epileptic Encephalopathy 96 ISO RGD:733160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 96 PMID:25741868|PMID:31675180 621595 Vcp valosin-containing protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 621595 Vcp valosin-containing protein gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:731621 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 621595 Vcp valosin-containing protein gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29754758|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:33144514|PMID:7182974 621595 Vcp valosin-containing protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 621595 Vcp valosin-containing protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:731621 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:30103325 621595 Vcp valosin-containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:7240710 20140903 OMIM 621595 Vcp valosin-containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17622780|PMID:17763460|PMID:17889967|PMID:18341608|PMID:18845250|PMID:19208399|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21249466|PMID:21320982|PMID:21387114|PMID:21816654|PMID:21822278|PMID:21880997|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22572540|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23000505|PMID:23029473|PMID:23056506|PMID:23152587|PMID:23169451|PMID:23333620|PMID:23498975|PMID:23868359|PMID:24123792|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:25878907|PMID:26105173|PMID:26467025|PMID:26511028|PMID:26549226|PMID:26555887|PMID:26627873|PMID:26809617|PMID:26853221|PMID:27165006|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28542158|PMID:28692196|PMID:28709720|PMID:29033165|PMID:29127544|PMID:29754758|PMID:30005904|PMID:30103325|PMID:30103957|PMID:30270202|PMID:30279455|PMID:30293881|PMID:30488450|PMID:30955949|PMID:31687228|PMID:31848255|PMID:31914217|PMID:32036797|PMID:32481679|PMID:33144514|PMID:7182974|PMID:9536098 621595 Vcp valosin-containing protein gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:731621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 621595 Vcp valosin-containing protein gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 621595 Vcp valosin-containing protein gene DOID:0080942 anauxetic dysplasia ISO RGD:731621 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 621595 Vcp valosin-containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:7240710 20160113 OMIM 621595 Vcp valosin-containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y PMID:15034582|PMID:19237541|PMID:21145000|PMID:21984748|PMID:22270372|PMID:22900631|PMID:23000505|PMID:23333620|PMID:23498975|PMID:24196964|PMID:25125609|PMID:25741868|PMID:25878907|PMID:26105173|PMID:26467025|PMID:27226613|PMID:27708273|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29127544|PMID:30279455|PMID:32481679 621595 Vcp valosin-containing protein gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:731621 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 621595 Vcp valosin-containing protein gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 621595 Vcp valosin-containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:7240710 20190320 OMIM 621595 Vcp valosin-containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28692196|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:33144514|PMID:7182974 621595 Vcp valosin-containing protein gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 621595 Vcp valosin-containing protein gene DOID:1059 intellectual disability ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21387114|PMID:21920633|PMID:25617006|PMID:25741868|PMID:26467025|PMID:28492532 621595 Vcp valosin-containing protein gene DOID:10652 Alzheimer's disease ISO RGD:731621 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 621595 Vcp valosin-containing protein gene DOID:12217 Lewy body dementia ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:28492532 621595 Vcp valosin-containing protein gene DOID:1307 dementia ISO RGD:731621 D RGD:1599735|PMID:15034582 20070213 RGD IBMPFD, OMIM:167320 621595 Vcp valosin-containing protein gene DOID:13636 Fanconi anemia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 621595 Vcp valosin-containing protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:18845250|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 621595 Vcp valosin-containing protein gene DOID:3429 inclusion body myositis ISO RGD:731621 D RGD:1599735|PMID:15034582 20070213 RGD IBMPFD, OMIM:167320 621595 Vcp valosin-containing protein gene DOID:5408 Paget's disease of bone ISO RGD:731621 D RGD:1599735|PMID:15034582 20070213 RGD IBMPFD, OMIM:167320 621595 Vcp valosin-containing protein gene DOID:607 paraplegia ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18845250|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 621595 Vcp valosin-containing protein gene DOID:630 genetic disease ISO RGD:731621 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15034582|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:18341608|PMID:18845250|PMID:19237541|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21822278|PMID:21920633|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:23029473|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24838343|PMID:25125609|PMID:25388089|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26467025|PMID:27790088|PMID:28130640|PMID:28492532|PMID:30270202|PMID:30293881|PMID:31687228|PMID:33144514|PMID:9536098 621595 Vcp valosin-containing protein gene DOID:9000918 Disease Progression ISO RGD:731621 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 621595 Vcp valosin-containing protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:731621 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 621595 Vcp valosin-containing protein gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:731621 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 621595 Vcp valosin-containing protein gene DOID:9005532 Muscle Weakness ISO RGD:731621 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 621595 Vcp valosin-containing protein gene DOID:9006205 Animal Disease Models ISO RGD:731621 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 621595 Vcp valosin-containing protein gene DOID:9006262 Cytomegalovirus Infections ISO RGD:731621 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:28494016 621595 Vcp valosin-containing protein gene DOID:9008086 Developmental Disabilities ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621595 Vcp valosin-containing protein gene DOID:9255 frontotemporal dementia ISS RGD:731622 D RGD:13592920 20220616 MouseDO OMIM:600274 621595 Vcp valosin-containing protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621595 Vcp valosin-containing protein gene DOID:9870 galactosemia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 621596 Trib1 tribbles pseudokinase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354037 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 621596 Trib1 tribbles pseudokinase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354037 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 621596 Trib1 tribbles pseudokinase 1 gene DOID:3393 coronary artery disease ISO RGD:1354037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 621596 Trib1 tribbles pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1354037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:7240710 20171011 OMIM 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CODAS syndrome PMID:1887855|PMID:25574826|PMID:25741868|PMID:25741869|PMID:25808063|PMID:27878435|PMID:28492532|PMID:30304514|PMID:31636596|PMID:5574826 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:2316 brain ischemia IDA D RGD:633879|PMID:12082077 19990101 RGD 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:326 ischemia IDA D RGD:633879|PMID:12082077 19990101 RGD 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:630 genetic disease ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:5574826 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:83 cataract ISO RGD:734453 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1887855|PMID:25574826|PMID:25741868|PMID:28492532 621598 Lonp1 lon peptidase 1, mitochondrial gene DOID:9007661 Dwarfism ISO RGD:734453 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 621599 Stip1 stress-induced phosphoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621599 Stip1 stress-induced phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:733337 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621599 Stip1 stress-induced phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:733337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 621599 Stip1 stress-induced phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:733337 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 621599 Stip1 stress-induced phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:733337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621599 Stip1 stress-induced phosphoprotein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733337 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33766539 621600 Ppp1r3b protein phosphatase 1, regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1344962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621600 Ppp1r3b protein phosphatase 1, regulatory subunit 3B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621600 Ppp1r3b protein phosphatase 1, regulatory subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344962 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:7240710 20130731 OMIM 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A PMID:17576681|PMID:23000146|PMID:23064416|PMID:23563198|PMID:23633024|PMID:24390136|PMID:25741868|PMID:26608363|PMID:28492532|PMID:9536098 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:9681734|PMID:24390136 20141205 RGD DNA:mutations:cds: 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:21778426|PMID:24804794|PMID:28492532 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:2717 Bloom syndrome ISO RGD:1605954 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:3390 palmoplantar keratosis ISO RGD:1605954 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23064416 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:3390 palmoplantar keratosis ISO RGD:1605954 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25741868 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:630 genetic disease ISO RGD:1605954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621601 Aagab alpha- and gamma-adaptin binding protein gene DOID:9256 colorectal cancer ISO RGD:1605954 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621603 Hint3 histidine triad nucleotide binding protein 3 gene DOID:630 genetic disease ISO RGD:1347010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621604 Uso1 USO1 vesicle transport factor gene DOID:37 skin disease ISO RGD:733099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621604 Uso1 USO1 vesicle transport factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:733099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 621604 Uso1 USO1 vesicle transport factor gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:733099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 621604 Uso1 USO1 vesicle transport factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:733099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621604 Uso1 USO1 vesicle transport factor gene DOID:9007964 Arsenic Poisoning ISO RGD:733099 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 621605 Nat8b N-acetyltransferase 8B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1605078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 621605 Nat8b N-acetyltransferase 8B gene DOID:543 dystonia ISO RGD:1605078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621605 Nat8b N-acetyltransferase 8B gene DOID:630 genetic disease ISO RGD:1605078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621605 Nat8b N-acetyltransferase 8B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621608 Egr2 early growth response 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:30889162|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32528171|PMID:32896048|PMID:34169998|PMID:9537424 621608 Egr2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:7240710 20180425 OMIM 621608 Egr2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant PMID:10369870|PMID:10371530|PMID:11523566|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:22546699|PMID:25741868|PMID:27013732|PMID:27159987|PMID:28492532|PMID:30843326 621608 Egr2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:7240710 20130221 OMIM 621608 Egr2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: HMSN 1D PMID:10369870|PMID:10371530|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27159987|PMID:28492532|PMID:31673878|PMID:32376792 621608 Egr2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:7240710 20130425 OMIM 621608 Egr2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E PMID:10369870|PMID:17717711|PMID:20301384|PMID:20301641|PMID:25741868|PMID:28492532|PMID:9537424 621608 Egr2 early growth response 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:21149811|PMID:22271166|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32896048|PMID:34169998 621608 Egr2 early growth response 2 gene DOID:1206 Rett syndrome ISO RGD:1352442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 621608 Egr2 early growth response 2 gene DOID:12849 autistic disorder ISO RGD:1352442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 621608 Egr2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:11554173 20180807 CTD CTD Direct Evidence: marker/mechanism 621608 Egr2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:1601012|PMID:10369870 20070404 RGD congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N 621608 Egr2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:734922|PMID:11523566 20070404 RGD Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W 621608 Egr2 early growth response 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1352442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 621608 Egr2 early growth response 2 gene DOID:3369 Ewing sarcoma ISO RGD:1352442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26214589 621608 Egr2 early growth response 2 gene DOID:3525 middle cerebral artery infarction IEP D RGD:10395314|PMID:22645329 20150901 RGD 621608 Egr2 early growth response 2 gene DOID:607 paraplegia ISO RGD:1352442 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 621608 Egr2 early growth response 2 gene DOID:630 genetic disease ISO RGD:1352442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762521|PMID:12471219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30889162|PMID:32376792|PMID:34323022 621608 Egr2 early growth response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352442 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621608 Egr2 early growth response 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352442 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621608 Egr2 early growth response 2 gene DOID:9008331 Tendon Injuries treatment IDA D RGD:10395300|PMID:23519232 20150901 RGD 621609 Nat8 N-acetyltransferase 8 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1350744 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 621609 Nat8 N-acetyltransferase 8 gene DOID:543 dystonia ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621609 Nat8 N-acetyltransferase 8 gene DOID:630 genetic disease ISO RGD:1350744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621609 Nat8 N-acetyltransferase 8 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 621609 Nat8 N-acetyltransferase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621611 Jdp2 Jun dimerization protein 2 gene DOID:1059 intellectual disability ISO RGD:1602305 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 621611 Jdp2 Jun dimerization protein 2 gene DOID:630 genetic disease ISO RGD:1602305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621611 Jdp2 Jun dimerization protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1602305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 621611 Jdp2 Jun dimerization protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621612 Nts neurotensin gene DOID:11446 sciatic neuropathy IEP D RGD:9743903|PMID:8518953 20150218 RGD 621612 Nts neurotensin gene DOID:3007 breast ductal carcinoma ISO RGD:1319092 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 621612 Nts neurotensin gene DOID:630 genetic disease ISO RGD:1319092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621612 Nts neurotensin gene DOID:9000332 Hypovolemia IEP D RGD:9727453|PMID:7721997 20150217 RGD mRNA:increased expression:neuron: 621612 Nts neurotensin gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:9743915|PMID:8866516 20150219 RGD mRNA,protein:increased expression:neuron: 621612 Nts neurotensin gene DOID:9001480 Muscle Rigidity ISO RGD:1319092 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8036282 621612 Nts neurotensin gene DOID:9002362 Hyperkinesis ISO RGD:1319092 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:3748325|PMID:6682440 621612 Nts neurotensin gene DOID:9002457 Experimental Arthritis IEP D RGD:9743903|PMID:8518953 20150218 RGD 621612 Nts neurotensin gene DOID:9003805 Catalepsy ISO RGD:1319092 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20882060 621612 Nts neurotensin gene DOID:9007001 Bradycardia ISO RGD:1319092 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:2326505 621614 Plekhb1 pleckstrin homology domain containing B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1343334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 621614 Plekhb1 pleckstrin homology domain containing B1 gene DOID:1059 intellectual disability ISO RGD:1343334 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621614 Plekhb1 pleckstrin homology domain containing B1 gene DOID:630 genetic disease ISO RGD:1343334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621614 Plekhb1 pleckstrin homology domain containing B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621615 Hip1r huntingtin interacting protein 1 related gene DOID:0060224 atrial fibrillation ISO RGD:733372 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 621615 Hip1r huntingtin interacting protein 1 related gene DOID:630 genetic disease ISO RGD:733372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1347828 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:11054 urinary bladder cancer ISO RGD:1347828 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:13515121|PMID:15820226 20180409 RGD mRNA:decreased expression:brain 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:1358563|PMID:12851458 19990101 RGD DNA:snps, haplotype:multiple (human) 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1347828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1347828 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 621616 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1347828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 621617 Gda guanine deaminase gene DOID:10534 stomach cancer ISO RGD:734048 D RGD:152995290|PMID:8076377 20220614 RGD protein:increased expression:stomach: 621617 Gda guanine deaminase gene DOID:305 carcinoma ISO RGD:734048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621617 Gda guanine deaminase gene DOID:630 genetic disease ISO RGD:734048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621617 Gda guanine deaminase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621617 Gda guanine deaminase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734048 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621617 Gda guanine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734048 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621618 Icmt isoprenylcysteine carboxyl methyltransferase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603405 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621618 Icmt isoprenylcysteine carboxyl methyltransferase gene DOID:630 genetic disease ISO RGD:1603405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621618 Icmt isoprenylcysteine carboxyl methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603405 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1605110 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:1324 lung cancer ISO RGD:1605110 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605110 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:161 keratosis ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:2237 hepatitis ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:733529 D RGD:6893270|PMID:21075092 20121022 RGD protein:decreased expression:brain (mouse) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1605110 D RGD:6893300|PMID:20718723 20120822 RGD protein:increased expression:hyperplastic lung epithelium, alveolus (human) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:3121 gallbladder cancer ISO RGD:1605110 D RGD:6893398|PMID:18692501 20120827 RGD DNA:missense mutations, frameshift mutations:cds:multiple (human) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605110 D RGD:6893397|PMID:18957896 20120827 RGD mRNA:increased expression:primary motor cortex (human) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22684020 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:5199 ureteral obstruction IEP D RGD:5133246|PMID:20734248 20120920 RGD protein:altered expression:kidney cortex (rat) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605110 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:630 genetic disease ISO RGD:1605110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:77 gastrointestinal system disease ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:783 end stage renal disease IEP D RGD:6892947|PMID:20007347 20120821 RGD protein:increased expression:renal cortex, cytosol (rat) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:8947 diabetic retinopathy IEP D RGD:10412733|PMID:23633659 20151124 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18692501 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1605110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20124447 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1605110 D RGD:6892954|PMID:22459801 20120821 RGD mRNA:decreased expression:liver (human) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9002165 Diabetic Nephropathies IDA D RGD:6893386|PMID:21439372 20120824 RGD 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605110 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:6902919|PMID:18078953 20120924 RGD protein:decreased expression:left coronary artery (rat) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733529 D RGD:6893270|PMID:21075092 20120822 RGD protein:decreased expression:brain, neuron, cytoplasm (mouse) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1605110 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9004484 Sepsis ISO RGD:733529 D RGD:6892955|PMID:21799073 20120821 RGD 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9005369 Hepatomegaly ISO RGD:1605110 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9005930 Endotoxemia ISO RGD:733529 D RGD:6892951|PMID:22609006 20120821 RGD 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733529 D RGD:6893370|PMID:18417483 20120824 RGD 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605110 D RGD:6892954|PMID:22459801 20120821 RGD mRNA:decreased expression:liver (human) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9452 fatty liver disease ISO RGD:733529 D RGD:6893372|PMID:22367278 20120824 RGD 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1605110 D RGD:5134973|PMID:18559366 20120821 RGD protein:increased expression:lung (human) 621619 Keap1 Kelch-like ECH-associated protein 1 gene DOID:9675 pulmonary emphysema onset ISO RGD:733529 D RGD:6893395|PMID:19520915 20120827 RGD 621621 Taar1 trace-amine-associated receptor 1 gene DOID:5419 schizophrenia ISS RGD:1553140 D RGD:13592920 20180518 MouseDO OMIM:181500 621621 Taar1 trace-amine-associated receptor 1 gene DOID:630 genetic disease ISO RGD:1346236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621622 Tmsb4x thymosin beta 4, X-linked gene DOID:0050777 Joubert syndrome ISO RGD:736781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 621622 Tmsb4x thymosin beta 4, X-linked gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 621622 Tmsb4x thymosin beta 4, X-linked gene DOID:12849 autistic disorder ISO RGD:736781 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621622 Tmsb4x thymosin beta 4, X-linked gene DOID:9002304 Prostatic Neoplasms ISO RGD:736781 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17916567 621622 Tmsb4x thymosin beta 4, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736781 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621623 Tpt1 tumor protein, translationally-controlled 1 gene DOID:630 genetic disease ISO RGD:735250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621623 Tpt1 tumor protein, translationally-controlled 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735250 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 621623 Tpt1 tumor protein, translationally-controlled 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735250 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 621625 Aurkb aurora kinase B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 621625 Aurkb aurora kinase B gene DOID:0080600 COVID-19 ISO RGD:731309 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621625 Aurkb aurora kinase B gene DOID:12177 common variable immunodeficiency ISO RGD:731309 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 621625 Aurkb aurora kinase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 621625 Aurkb aurora kinase B gene DOID:2729 dyskeratosis congenita ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 621625 Aurkb aurora kinase B gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731309 D RGD:2293878|PMID:16311121 20080619 RGD mRNA, protein:increased expression:endometrium 621625 Aurkb aurora kinase B gene DOID:2986 IgA glomerulonephritis ISO RGD:731309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 621625 Aurkb aurora kinase B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 621625 Aurkb aurora kinase B gene DOID:630 genetic disease ISO RGD:731309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621625 Aurkb aurora kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:731309 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621625 Aurkb aurora kinase B gene DOID:8634 prostate carcinoma in situ ISO RGD:731309 D RGD:2293877|PMID:16707419 20080619 RGD 621625 Aurkb aurora kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:731309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 621625 Aurkb aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731309 D RGD:2293877|PMID:16707419 20080619 RGD 621625 Aurkb aurora kinase B gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:731309 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 621626 Rhoq ras homolog family member Q gene DOID:3883 Lynch syndrome ISO RGD:1345983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 621626 Rhoq ras homolog family member Q gene DOID:630 genetic disease ISO RGD:1345983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621626 Rhoq ras homolog family member Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345983 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621627 Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1322651 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621627 Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621627 Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:1059 intellectual disability ISO RGD:1323543 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:3021 acute kidney failure ISO RGD:1323543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14655203 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:3070 high grade glioma ISO RGD:1323543 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:630 genetic disease ISO RGD:1323543 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21148271|PMID:25741868|PMID:28492532|PMID:30920107 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9005835 Congenital Abnormalities ISO RGD:1323543 D RGD:1599244|PMID:15634722 20070122 RGD Mutations in the human homolog cause hypouricemia, a deficiency of uric acid in the blood. 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9005835 Congenital Abnormalities ISO RGD:1323543 D RGD:1599245|PMID:12024214 20070122 RGD Mutations in the human homolog cause hypouricemia, a deficiency of uric acid in the blood. 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14655203|PMID:14694169|PMID:22132990 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:7240710 20130221 OMIM 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia PMID:12024214|PMID:14655203|PMID:14694169|PMID:15054642|PMID:15327384|PMID:15634722|PMID:15741204|PMID:15912381|PMID:16199547|PMID:16385546|PMID:16703794|PMID:17103332|PMID:17362586|PMID:18492088|PMID:18760270|PMID:19019168|PMID:19092327|PMID:21148271|PMID:21211204|PMID:21366895|PMID:21614936|PMID:22045201|PMID:22194875|PMID:22257548|PMID:23043931|PMID:23386035|PMID:23525542|PMID:23652934|PMID:24033266|PMID:24827988|PMID:25264011|PMID:25658588|PMID:25741868|PMID:26500098|PMID:26603249|PMID:28492532|PMID:29486147|PMID:29659532|PMID:30097038|PMID:30315176|PMID:31591475|PMID:32271837|PMID:33821957 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9007733 Familial Renal Hypouricemia due to Tubular Hypersecretion ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial renal hypouricemia PMID:14694169|PMID:15327384|PMID:15741204|PMID:15912381|PMID:16703794|PMID:17362586|PMID:18492088|PMID:19019168|PMID:22045201|PMID:22194875|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29659532|PMID:30097038|PMID:33821957 621628 Slc22a12 solute carrier family 22 member 12 gene DOID:9351 diabetes mellitus IEP D RGD:13439745|PMID:28679589 20171017 RGD protein:decreased expression:kidney 621629 Or1n1 olfactory receptor family 1 subfamily N member 1 gene DOID:630 genetic disease ISO RGD:1351301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621630 Ssr3 signal sequence receptor subunit 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349375 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:30945312 621630 Ssr3 signal sequence receptor subunit 3 gene DOID:630 genetic disease ISO RGD:1349375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621631 Ascl3 achaete-scute family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1315779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621632 Itga2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 no_association ISO RGD:1348738 D RGD:11530070|PMID:14652648 20160824 RGD DNA:SNP: :807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1348738 D RGD:10766468|PMID:15226188 20160824 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:0060574 von Willebrand's disease 2 severity ISO RGD:1348738 D RGD:10766469|PMID:16409463 20160208 RGD DNA:haplotype:promoter: 621632 Itga2 integrin subunit alpha 2 gene DOID:0060903 thrombosis ISO RGD:1348738 D RGD:9068941 20220825 RGD PMID:14563646|REF_RGD_ID:1582298 621632 Itga2 integrin subunit alpha 2 gene DOID:0060903 thrombosis susceptibility ISO RGD:1348738 D RGD:1582300|PMID:12412731 20140708 RGD associated with Behcet Syndrome;DNA:snp:cds:c.807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1553829 D RGD:8693305|PMID:11489992 20140709 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 PMID:19500323|PMID:22862885|PMID:23368983|PMID:25741868|PMID:28492532 621632 Itga2 integrin subunit alpha 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1348738 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B 621632 Itga2 integrin subunit alpha 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1348738 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 621632 Itga2 integrin subunit alpha 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1348738 D RGD:8686432|PMID:22948415 20140707 RGD DNA:snp:cds:c.807C>T (rs1126643) (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:11758 iron deficiency anemia ISO RGD:1348738 D RGD:11530068|PMID:12225391 20160824 RGD DNA:SNP: :807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1348738 D RGD:1582300|PMID:12412731 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:13514 venous tributary occlusion of retina no_association ISO RGD:1348738 D RGD:1582301|PMID:16157382 20061104 RGD DNA:snp:cds:g.807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:1588 thrombocytopenia ISO RGD:1348738 D RGD:11530072|PMID:22133274 20160824 RGD associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion ISO RGD:1348738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12928694 621632 Itga2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1348738 D RGD:8686430|PMID:12928694 20140707 RGD DNA:snp, haplotype:cds:g.807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:2219 Glanzmann's thrombasthenia severity ISO RGD:1348738 D RGD:1582297|PMID:14687991 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1348738 D RGD:1582304|PMID:11978651 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:289 endometriosis ISO RGD:1348738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 621632 Itga2 integrin subunit alpha 2 gene DOID:3393 coronary artery disease no_association ISO RGD:1348738 D RGD:1582294|PMID:15227729 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1553829 D RGD:8693207|PMID:19387084 20140708 RGD protein:increased expression:eye anterior segment, natural killer cell (mouse) 621632 Itga2 integrin subunit alpha 2 gene DOID:3891 placental insufficiency IEP D RGD:5147460|PMID:20621762 20140708 RGD mRNA:decreased expression:placenta (rat) 621632 Itga2 integrin subunit alpha 2 gene DOID:552 pneumonia treatment ISO RGD:1553829 D RGD:8693217|PMID:11207307 20140708 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction ISO RGD:1348738 D RGD:1581029|PMID:10194421 19990101 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction no_association ISO RGD:1348738 D RGD:1582294|PMID:15227729 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348738 D RGD:1582296|PMID:16697311 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1348738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621632 Itga2 integrin subunit alpha 2 gene DOID:8805 intermediate coronary syndrome susceptibility ISO RGD:1348738 D RGD:1582303|PMID:15104219 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:2313281|PMID:18806884 20140707 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:8686431|PMID:21632096 20140707 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy severity ISO RGD:1348738 D RGD:2307419|PMID:12540964 20090602 RGD associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1348738 D RGD:7777103|PMID:23776381 20140707 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:9000064 Cardiac Arrhythmias no_association ISO RGD:1348738 D RGD:1582305|PMID:10822074 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1553829 D RGD:11530069|PMID:16534417 20160824 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:9000528 Coronary Disease no_association ISO RGD:1348738 D RGD:1582306|PMID:9684730 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1348738 D RGD:2307420|PMID:8989742 20090602 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:9002211 Hyperalgesia ISO RGD:1348738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 621632 Itga2 integrin subunit alpha 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1553829 D RGD:2307421|PMID:19321657 20090602 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) 621632 Itga2 integrin subunit alpha 2 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1348738 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia PMID:23368983|PMID:25741868 621632 Itga2 integrin subunit alpha 2 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1348738 D RGD:1582302|PMID:16525573 20061104 RGD DNA:SNP: :807C>T (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:1348738 D RGD:1582295|PMID:16380674 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348738 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621632 Itga2 integrin subunit alpha 2 gene DOID:9007096 Stroke no_association ISO RGD:1348738 D RGD:1582299|PMID:12871362 20061104 RGD 621632 Itga2 integrin subunit alpha 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1348738 D RGD:13592606|PMID:25207168 20180514 RGD DNA:SNP::807C>T(human) 621632 Itga2 integrin subunit alpha 2 gene DOID:9007402 Gliosis ISO RGD:1348738 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 621632 Itga2 integrin subunit alpha 2 gene DOID:9007456 Female Infertility ISO RGD:1553829 D RGD:2307422|PMID:19146775 20090602 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) 621632 Itga2 integrin subunit alpha 2 gene DOID:9351 diabetes mellitus ISO RGD:1348738 D RGD:2307424|PMID:17466965 20090602 RGD protein:increased expression:monocyte (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348738 D RGD:2307425|PMID:15025679 20090602 RGD protein:increased expression:platelet (human) 621632 Itga2 integrin subunit alpha 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553829 D RGD:2307423|PMID:18567821 20090602 RGD protein:altered expression:thymocyte (mouse) 621633 Itga6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:7240710 20131030 OMIM 621633 Itga6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:14675179|PMID:23496044|PMID:25741868|PMID:27607025|PMID:28492532|PMID:9185503 621633 Itga6 integrin subunit alpha 6 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISS RGD:731430 D RGD:13592920 20180518 MouseDO OMIM:226700 621633 Itga6 integrin subunit alpha 6 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:731429 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 621633 Itga6 integrin subunit alpha 6 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:731429 D RGD:1600016|PMID:9185503 20070226 RGD epidermolysis bullosa with pyloric atresia, OMIM:226730 621633 Itga6 integrin subunit alpha 6 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:731429 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:21357940|PMID:25741868 621633 Itga6 integrin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:731429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621633 Itga6 integrin subunit alpha 6 gene DOID:7148 rheumatoid arthritis ISO RGD:731429 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 621633 Itga6 integrin subunit alpha 6 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:1302259|PMID:13130099 20070226 RGD 621634 Itga8 integrin subunit alpha 8 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736147 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 621634 Itga8 integrin subunit alpha 8 gene DOID:14766 renal agenesis ISO RGD:736147 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism 621634 Itga8 integrin subunit alpha 8 gene DOID:2394 ovarian cancer ISO RGD:736147 D RGD:2302241|PMID:17303177 20081205 RGD DNA:hypermethylation:promoter 621634 Itga8 integrin subunit alpha 8 gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:12910487|PMID:25482639 20170615 RGD mRNA:increased expression:cortex of kidney 621634 Itga8 integrin subunit alpha 8 gene DOID:5419 schizophrenia treatment ISO RGD:736147 D RGD:13601982|PMID:23153507 20180525 RGD DNA:SNP:cds: rs2298033(human) 621634 Itga8 integrin subunit alpha 8 gene DOID:630 genetic disease ISO RGD:736147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621634 Itga8 integrin subunit alpha 8 gene DOID:783 end stage renal disease ISO RGD:736147 D RGD:7257723|PMID:18277079 20130903 RGD associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human) 621634 Itga8 integrin subunit alpha 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736147 D RGD:7257723|PMID:18277079 20130903 RGD mRNA:increased expression:kidney 621634 Itga8 integrin subunit alpha 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 621634 Itga8 integrin subunit alpha 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 621634 Itga8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:7240710 20180711 OMIM 621634 Itga8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:24439109|PMID:25741868|PMID:28492532|PMID:33532864 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:0050553 JMP syndrome ISO RGD:1353034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353034 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:10652 Alzheimer's disease ISO RGD:1353034 D RGD:10053642|PMID:9507158 20150716 RGD protein:increased expression:temporal cortex, membrane 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:127 leiomyoma ISO RGD:1353034 D RGD:1643479|PMID:16962107 20080507 RGD associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1353034 D RGD:14394817|PMID:19898928 20190401 RGD DNA:mutation:exon:c.342C>T(human) 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:2893 cervix carcinoma ISO RGD:1353034 D RGD:2315701|PMID:12771926 20100108 RGD DNA:missense mutations:exon:multiple (human) 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552456 D RGD:13506803|PMID:20890041 20180216 RGD 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:3669 intermittent claudication IEP D RGD:9586024|PMID:23658678 20150720 RGD 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1353034 D RGD:2315703|PMID:9894249 20100108 RGD 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:5844 myocardial infarction ISO RGD:1353034 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:630 genetic disease ISO RGD:1353034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2315709|PMID:11232245 20100108 RGD mRNA:increased expression:liver 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353034 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18349538 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1353034 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19740541 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:2316133|PMID:18993028 20100126 RGD 621635 Bak1 BCL2-antagonist/killer 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552456 D RGD:2315700|PMID:19222350 20100108 RGD 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1352714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10942428 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1352714 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:10958759|PMID:10968777|PMID:25741868|PMID:7562283 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:7240710 20140911 OMIM 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) PMID:10942428|PMID:10958759|PMID:10968777|PMID:21031596|PMID:25741868|PMID:28492532|PMID:7562283 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1352714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:630 genetic disease ISO RGD:1352714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:7240710 20190315 OMIM 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B PMID:25741868|PMID:27557811|PMID:28492532 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:905 Zellweger syndrome ISO RGD:1352714 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10942428 621636 Pex3 peroxisomal biogenesis factor 3 gene DOID:905 Zellweger syndrome ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:31831025|PMID:31980526|PMID:8670792|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31980526|PMID:33003980|PMID:33776059|PMID:8670792|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:8670792|PMID:8940266|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:734166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8940266|PMID:10408779 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:7240710 20141015 OMIM 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:10408779|PMID:11004248|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080623 Heimler syndrome 1 ISO RGD:734166 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:7240710 20151111 OMIM 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:11873320|PMID:15542397|PMID:16530715|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:8670792 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:734166 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:15542397|PMID:19105186|PMID:19877282|PMID:24016303|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:10003 sensorineural hearing loss ISO RGD:734166 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:19877282|PMID:25079577|PMID:25741868 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:10579 leukodystrophy ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:1059 intellectual disability ISO RGD:734166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:630 genetic disease ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:19105186|PMID:19877282|PMID:21031596|PMID:24016303|PMID:24459294|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678|PMID:34055681|PMID:8670792 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:8501 fundus dystrophy ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:31216405|PMID:31831025|PMID:33003980|PMID:33776059 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:7240710 20140911 OMIM 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:21937992|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:905 Zellweger syndrome ISO RGD:734166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8940266|PMID:10408779 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:905 Zellweger syndrome ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 621637 Pex6 peroxisomal biogenesis factor 6 gene DOID:906 peroxisomal disease IMP D RGD:729462|PMID:7493019 19990101 RGD 621638 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:14330 Parkinson's disease ISS RGD:732808 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 621638 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:630 genetic disease ISO RGD:737541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621638 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:737541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 621638 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9002346 Pharyngeal Neoplasms ISO RGD:737541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 621638 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9003613 Laryngeal Neoplasms ISO RGD:737541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 621638 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9007364 Mouth Neoplasms ISO RGD:737541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:732173 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24934491|PMID:25741868|PMID:28492532|PMID:31479588 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0111771 46,XY sex reversal 4 ISO RGD:732173 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 4 PMID:25741868 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:14448 46,XY sex reversal ISO RGD:732173 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:630 genetic disease ISO RGD:732173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 621640 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:732173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 621641 Soat1 sterol O-acyltransferase 1 gene DOID:10230 aortic atherosclerosis ameliorates ISO RGD:731039 D RGD:126925208|PMID:30282838 20210514 RGD associated with Hypercholesterolemia 621641 Soat1 sterol O-acyltransferase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:731039 D RGD:126925202|PMID:22022387 20210514 RGD DNA:Missense mutations, haplotype:CDS:multiple (mouse) 621641 Soat1 sterol O-acyltransferase 1 gene DOID:12140 Chagas disease ameliorates ISO RGD:731038 D RGD:126925205|PMID:31236660 20210514 RGD DNA:SNP:exon: rs1044925 (human) 621641 Soat1 sterol O-acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731038 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621641 Soat1 sterol O-acyltransferase 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731039 D RGD:126925203|PMID:31495784 20210514 RGD myeloid knockout 621641 Soat1 sterol O-acyltransferase 1 gene DOID:3345 xanthomatosis ISO RGD:731039 D RGD:126925206|PMID:30354239 20210514 RGD associated with atherosclerosis 621641 Soat1 sterol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621641 Soat1 sterol O-acyltransferase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731038 D RGD:9068941 20210514 RGD associated with hepatitis B;protein:increased expression:liver (human) PMID:30814741|REF_RGD_ID:126925204 621641 Soat1 sterol O-acyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621641 Soat1 sterol O-acyltransferase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731038 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 621641 Soat1 sterol O-acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731038 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621641 Soat1 sterol O-acyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731039 D RGD:126925207|PMID:26606676 20210514 RGD mRNA:increased expression:peritoneal macrophage (mouse) 621642 Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346429 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621642 Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 gene DOID:630 genetic disease ISO RGD:1346429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621642 Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:7240710 20210707 OMIM 621642 Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 11 PMID:32947856 621643 Stk39 serine threonine kinase 39 gene DOID:0050450 Gitelman syndrome ISS RGD:734215 D RGD:13592920 20180518 MouseDO OMIM:263800 621643 Stk39 serine threonine kinase 39 gene DOID:10763 hypertension ISO RGD:734214 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22949526 621643 Stk39 serine threonine kinase 39 gene DOID:12849 autistic disorder ISO RGD:734214 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 621643 Stk39 serine threonine kinase 39 gene DOID:3910 lung adenocarcinoma ISO RGD:734214 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621643 Stk39 serine threonine kinase 39 gene DOID:4479 pseudohypoaldosteronism ISS RGD:734215 D RGD:13592920 20200604 MouseDO 621643 Stk39 serine threonine kinase 39 gene DOID:630 genetic disease ISO RGD:734214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621643 Stk39 serine threonine kinase 39 gene DOID:9006205 Animal Disease Models ISO RGD:734214 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621644 Itgae integrin subunit alpha E gene DOID:3613 Canavan disease ISO RGD:1346113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 621644 Itgae integrin subunit alpha E gene DOID:630 genetic disease ISO RGD:1346113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621645 Aplnr apelin receptor gene DOID:1059 intellectual disability ISO RGD:733537 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621645 Aplnr apelin receptor gene DOID:630 genetic disease ISO RGD:733537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621645 Aplnr apelin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:733538 D RGD:2313945|PMID:17692936 20091028 RGD protein:decreased expression:renal artery 621646 Vim vimentin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 621646 Vim vimentin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733128 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 621646 Vim vimentin gene DOID:0080600 COVID-19 ISO RGD:733128 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 621646 Vim vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:7240710 20130724 OMIM 621646 Vim vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30 PMID:19126778|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 621646 Vim vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733128 D RGD:6480519|PMID:19728994 20120327 RGD protein:increased expression:brain 621646 Vim vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733129 D RGD:6480519|PMID:19728994 20120327 RGD protein:increased expression:brain 621646 Vim vimentin gene DOID:12140 Chagas disease IEP D RGD:6480538|PMID:22199233 20120327 RGD protein:increased expression:plasma 621646 Vim vimentin gene DOID:12140 Chagas disease severity ISO RGD:733128 D RGD:6480538|PMID:22199233 20120327 RGD protein:increased expression:plasma 621646 Vim vimentin gene DOID:1289 neurodegenerative disease ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 621646 Vim vimentin gene DOID:12894 Sjogren's syndrome ISO RGD:733128 D RGD:6480477|PMID:6352937 20120323 RGD 621646 Vim vimentin gene DOID:13241 Behcet's disease ISO RGD:733128 D RGD:6480476|PMID:3780056 20120323 RGD 621646 Vim vimentin gene DOID:1790 malignant mesothelioma ISO RGD:733128 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 621646 Vim vimentin gene DOID:1936 atherosclerosis ISO RGD:733128 D RGD:6480618|PMID:21362765 20120328 RGD associated with arthritis,rheumatoid 621646 Vim vimentin gene DOID:231 motor neuron disease ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 621646 Vim vimentin gene DOID:2527 nephrosis IEP D RGD:6480447|PMID:16418842 20120322 RGD mRNA,protein:increased expression:podocyte 621646 Vim vimentin gene DOID:2527 nephrosis ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 621646 Vim vimentin gene DOID:2945 severe acute respiratory syndrome ISO RGD:733128 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26801988 621646 Vim vimentin gene DOID:3393 coronary artery disease ISO RGD:733128 D RGD:6480617|PMID:21938407 20120328 RGD protein:increased expression:monocyte 621646 Vim vimentin gene DOID:3526 cerebral infarction IEP D RGD:6480442|PMID:18802758 20120322 RGD 621646 Vim vimentin gene DOID:4236 carcinosarcoma ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 621646 Vim vimentin gene DOID:5082 liver cirrhosis ISO RGD:733128 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155|PMID:32659284 621646 Vim vimentin gene DOID:5485 synovial sarcoma ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15043115 621646 Vim vimentin gene DOID:557 kidney disease ISO RGD:733128 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 621646 Vim vimentin gene DOID:5679 retinal disease ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 621646 Vim vimentin gene DOID:630 genetic disease ISO RGD:733128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621646 Vim vimentin gene DOID:6432 pulmonary hypertension IEP D RGD:38500244|PMID:25593290 20200924 RGD protein:increased expression, increased phosphorylation:lung 621646 Vim vimentin gene DOID:7148 rheumatoid arthritis ISO RGD:733128 D RGD:6480508|PMID:21792832 20120323 RGD 621646 Vim vimentin gene DOID:799 varicose veins ISO RGD:733128 D RGD:11529441|PMID:26808710 20221107 RGD mRNA,protein:increased expression:vein: 621646 Vim vimentin gene DOID:7998 hyperthyroidism IEP D RGD:6480446|PMID:17306450 20120322 RGD protein:increased expression, hyperphosphorylation:testis 621646 Vim vimentin gene DOID:83 cataract ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19126778 621646 Vim vimentin gene DOID:83 cataract ISO RGD:733128 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 621646 Vim vimentin gene DOID:8398 osteoarthritis ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16876394|PMID:18784066 621646 Vim vimentin gene DOID:9000039 Spinal Cord Injuries IEP D RGD:6480511|PMID:21250919 20120327 RGD protein:increased expression:spinal cord 621646 Vim vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:733129 D RGD:6480471|PMID:10225952 20120323 RGD 621646 Vim vimentin gene DOID:9000784 Fibrosis ISO RGD:733128 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 621646 Vim vimentin gene DOID:9000965 Neoplasm Metastasis ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 621646 Vim vimentin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:733128 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 621646 Vim vimentin gene DOID:9000972 Fever IEP D RGD:1304397|PMID:12834255 20120322 RGD protein:increased expression:glial cell 621646 Vim vimentin gene DOID:9000998 Brain Injuries IEP D RGD:6480527|PMID:15527750 20120327 RGD 621646 Vim vimentin gene DOID:9000998 Brain Injuries ISO RGD:733129 D RGD:6480519|PMID:19728994 20120327 RGD protein:increased expression:brain 621646 Vim vimentin gene DOID:9001036 Penetrating Head Injuries ISO RGD:733129 D RGD:6480471|PMID:10225952 20120323 RGD 621646 Vim vimentin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:38599216|PMID:29323718 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) 621646 Vim vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621646 Vim vimentin gene DOID:9001586 Experimental Liver Neoplasms IDA D RGD:6480440|PMID:19199359 20120322 RGD 621646 Vim vimentin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 621646 Vim vimentin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733128 D RGD:38500244|PMID:25593290 20200924 RGD protein:increased phosphorylation:lung 621646 Vim vimentin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733128 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 621646 Vim vimentin gene DOID:9002304 Prostatic Neoplasms ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973|PMID:24763052 621646 Vim vimentin gene DOID:9002457 Experimental Arthritis IDA D RGD:6480480|PMID:7516431 20120323 RGD 621646 Vim vimentin gene DOID:9003919 Urination Disorders IMP D RGD:6480511|PMID:21250919 20120327 RGD associated with spinal cord injuries 621646 Vim vimentin gene DOID:9004009 Reperfusion Injury ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 621646 Vim vimentin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733128 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 621646 Vim vimentin gene DOID:9004657 Weight Gain ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621646 Vim vimentin gene DOID:9004771 Vascular Remodeling IEP D RGD:38500244|PMID:25593290 20200924 RGD protein:increased phosphorylation:lung 621646 Vim vimentin gene DOID:9006008 Closed Head Injuries IEP D RGD:6480531|PMID:8833197 20120327 RGD 621646 Vim vimentin gene DOID:9006205 Animal Disease Models ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 621646 Vim vimentin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 621646 Vim vimentin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 621646 Vim vimentin gene DOID:9007402 Gliosis IEP D RGD:6480622|PMID:21958862 20120328 RGD associated with alcohol-induced disorders, nervous system;protein:increased expression:astrocyte 621646 Vim vimentin gene DOID:9007402 Gliosis IMP D RGD:6480626|PMID:15684657 20120328 RGD associated with head injuries, penetrating 621646 Vim vimentin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733128 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 621646 Vim vimentin gene DOID:9008939 Breast Neoplasms ISO RGD:733128 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:24014025|PMID:25330770|PMID:27811057 621646 Vim vimentin gene DOID:9074 systemic lupus erythematosus ISO RGD:733128 D RGD:6480476|PMID:3780056 20120323 RGD 621646 Vim vimentin gene DOID:9351 diabetes mellitus ISO RGD:733128 D RGD:152975631|PMID:27411924 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) 621647 Vip vasoactive intestinal peptide gene DOID:0060180 colitis ISO RGD:732375 D RGD:5685605|PMID:19661153 20120112 RGD associated with Gram-Negative Bacterial Infections 621647 Vip vasoactive intestinal peptide gene DOID:0080855 Parkinsonism IMP D RGD:5685601|PMID:15808913 20120111 RGD 621647 Vip vasoactive intestinal peptide gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348931 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 621647 Vip vasoactive intestinal peptide gene DOID:1059 intellectual disability ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 621647 Vip vasoactive intestinal peptide gene DOID:11832 visual epilepsy IEP D RGD:5685634|PMID:20369387 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:12849 autistic disorder ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17521630 621647 Vip vasoactive intestinal peptide gene DOID:12894 Sjogren's syndrome ISO RGD:732375 D RGD:5685375|PMID:22059987 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:13141 uveitis IDA D RGD:4889998|PMID:19232006 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348931 D RGD:5685623|PMID:20442436 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 621647 Vip vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:732375 D RGD:5685613|PMID:19037032 20120112 RGD mRNA:increased expression:brain 621647 Vip vasoactive intestinal peptide gene DOID:14330 Parkinson's disease ISO RGD:1348931 D RGD:5685606|PMID:19476518 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:14557 primary pulmonary hypertension ISS RGD:732375 D RGD:13592920 20180518 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 621647 Vip vasoactive intestinal peptide gene DOID:1561 cognitive disorder ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8208360 621647 Vip vasoactive intestinal peptide gene DOID:1875 impotence ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10233493 621647 Vip vasoactive intestinal peptide gene DOID:2316 brain ischemia IDA D RGD:5685617|PMID:18158987 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:2841 asthma IDA D RGD:5685381|PMID:21419198 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:732375 D RGD:5685620|PMID:16782752 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:289 endometriosis ISO RGD:1348931 D RGD:5685615|PMID:18928861 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:365 bladder disease ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18299998 621647 Vip vasoactive intestinal peptide gene DOID:4483 rhinitis ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12746121|PMID:14680090 621647 Vip vasoactive intestinal peptide gene DOID:4677 keratitis ISO RGD:732375 D RGD:5685380|PMID:21666233 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:630 genetic disease ISO RGD:1348931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621647 Vip vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension IDA D RGD:5685374|PMID:22140628 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:7147 ankylosing spondylitis ISO RGD:1348931 D RGD:5685387|PMID:20340024 20120110 RGD protein:increased expression:plasma 621647 Vip vasoactive intestinal peptide gene DOID:824 periodontitis IDA D RGD:5685624|PMID:19792856 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:8577 ulcerative colitis severity ISO RGD:1348931 D RGD:5685619|PMID:22143367 20120112 RGD mRNA:decreased expression:colon 621647 Vip vasoactive intestinal peptide gene DOID:9000197 Edema ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 621647 Vip vasoactive intestinal peptide gene DOID:9000641 Pain ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9920454 621647 Vip vasoactive intestinal peptide gene DOID:9000722 Animal Hepatitis ISO RGD:732375 D RGD:5685610|PMID:19222997 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:15144609 621647 Vip vasoactive intestinal peptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 621647 Vip vasoactive intestinal peptide gene DOID:9001048 Nociceptive Pain IDA D RGD:5685608|PMID:19467283 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9002211 Hyperalgesia ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 621647 Vip vasoactive intestinal peptide gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 621647 Vip vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis IDA D RGD:5685612|PMID:19055696 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:732375 D RGD:5685376|PMID:21998117 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9002554 Tachycardia ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3261545 621647 Vip vasoactive intestinal peptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732375 D RGD:5685386|PMID:20978211 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9004009 Reperfusion Injury ISO RGD:732375 D RGD:5685379|PMID:21693218 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury IDA D RGD:4145303|PMID:20441697 20120110 RGD associated with Endotoxemia 621647 Vip vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8643465 621647 Vip vasoactive intestinal peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732375 D RGD:5685622|PMID:21129425 20120112 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9006024 Hypotension ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9881641 621647 Vip vasoactive intestinal peptide gene DOID:9007402 Gliosis ISO RGD:732375 D RGD:5685382|PMID:21281617 20120110 RGD 621647 Vip vasoactive intestinal peptide gene DOID:9007763 Flushing ISO RGD:1348931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10233493 621647 Vip vasoactive intestinal peptide gene DOID:9008114 Helicobacter Infections ISO RGD:732375 D RGD:5685602|PMID:19906107 20120111 RGD protein:increased expression:spinal cord, stomach 621647 Vip vasoactive intestinal peptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:732375 D RGD:5685388|PMID:20309012 20120110 RGD 621648 Fdxr ferredoxin reductase gene DOID:630 genetic disease ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 621648 Fdxr ferredoxin reductase gene DOID:9000729 OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome PMID:25741868|PMID:30250212 621648 Fdxr ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:7240710 20190315 OMIM 621648 Fdxr ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 621649 Plec plectin gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731690 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621649 Plec plectin gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731690 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia 621649 Plec plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:7240710 20130221 OMIM 621649 Plec plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:11851880|PMID:15206692|PMID:15810881|PMID:18414213|PMID:20016501|PMID:20301336|PMID:22854623|PMID:22864774|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28400893|PMID:28492532|PMID:29334134|PMID:29453417|PMID:32017015 621649 Plec plectin gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 621649 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:7240710 20130221 OMIM 621649 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30293987|PMID:30919572|PMID:31319225|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 621649 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 621649 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 621649 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:30293987|PMID:30691450|PMID:30919572|PMID:31001817|PMID:31066050|PMID:31230720|PMID:31319225|PMID:31509265|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32576226|PMID:32707200|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098|PMID:9886273 621649 Plec plectin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:731690 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 PMID:25741868|PMID:26467025|PMID:28492532 621649 Plec plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:7240710 20130221 OMIM 621649 Plec plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:10652002|PMID:11851880|PMID:15206692|PMID:15810881|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22854623|PMID:23289980|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28447722|PMID:28492532|PMID:28824526|PMID:29453417|PMID:30919572|PMID:31230720|PMID:31319225|PMID:32017015|PMID:34572129|PMID:9536098 621649 Plec plectin gene DOID:423 myopathy ISO RGD:731690 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28400893 621649 Plec plectin gene DOID:4621 holoprosencephaly ISO RGD:731690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 621649 Plec plectin gene DOID:4644 epidermolysis bullosa simplex ISO RGD:731690 D RGD:1599911|PMID:8894687 20070221 RGD DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies 621649 Plec plectin gene DOID:4644 epidermolysis bullosa simplex ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:11851880|PMID:23289980|PMID:25741868|PMID:28492532 621649 Plec plectin gene DOID:630 genetic disease ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 621649 Plec plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:7240710 20170308 OMIM 621649 Plec plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:11851880|PMID:15206692|PMID:15659326|PMID:15810881|PMID:20301336|PMID:20447487|PMID:21109228|PMID:21263134|PMID:22854623|PMID:23289980|PMID:23757202|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29453417|PMID:32017015|PMID:32725257 621649 Plec plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:7240710 20130221 OMIM 621649 Plec plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:11851880|PMID:14675180|PMID:15206692|PMID:15654962|PMID:15681471|PMID:15810881|PMID:20301336|PMID:22854623|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29453417|PMID:32017015 621649 Plec plectin gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:731690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 621650 Akp3 alkaline phosphatase 3, intestine, not Mn requiring gene DOID:1485 cystic fibrosis ISO RGD:10148 D RGD:14349050|PMID:21970994 20190211 RGD mRNA,protein:decreased expression:intestine: 621650 Akp3 alkaline phosphatase 3, intestine, not Mn requiring gene DOID:9005930 Endotoxemia ISO RGD:10148 D RGD:14349049|PMID:23569246 20190211 RGD 621650 Akp3 alkaline phosphatase 3, intestine, not Mn requiring gene DOID:9006646 Metabolic Syndrome ISO RGD:10148 D RGD:14349049|PMID:23569246 20190211 RGD 621650 Akp3 alkaline phosphatase 3, intestine, not Mn requiring gene DOID:9452 fatty liver disease ISO RGD:10148 D RGD:14349048|PMID:17332477 20190211 RGD 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:0112265 iminoglycinuria ISO RGD:1603308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:1059 intellectual disability ISO RGD:1603308 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:630 genetic disease ISO RGD:1603308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:9002304 Prostatic Neoplasms ISO RGD:736373 D RGD:11554173 20220913 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:9003566 Mesothelioma ISO RGD:1603308 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 621651 Slc6a20a solute carrier family 6 member 20a gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1603308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 621652 Klf10 KLF transcription factor 10 gene DOID:0111590 Cohen syndrome ISO RGD:1348365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 621652 Klf10 KLF transcription factor 10 gene DOID:630 genetic disease ISO RGD:1348365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621653 Crisp2 cysteine-rich secretory protein 2 gene DOID:11372 megacolon ISO RGD:1315322 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 621653 Crisp2 cysteine-rich secretory protein 2 gene DOID:630 genetic disease ISO RGD:1315322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605734 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:0080600 COVID-19 ISO RGD:1605734 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:12336 male infertility ISO RGD:1605734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:12849 autistic disorder ISO RGD:1605734 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:2018 hyperinsulinism ISO RGD:1605734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:2519 testicular disease ISO RGD:1605734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:630 genetic disease ISO RGD:1605734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621654 Tsc22d3 TSC22 domain family, member 3 gene DOID:9001981 Weight Loss ISO RGD:1605734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 621655 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:732908 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621655 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:12704 ataxia telangiectasia ISO RGD:732908 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621655 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:630 genetic disease ISO RGD:732908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621655 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732908 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621655 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 621655 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732908 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 621656 Timm9 translocase of inner mitochondrial membrane 9 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1352655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1350710 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:7240710 20130425 OMIM 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 PMID:16199547|PMID:17576681|PMID:20031595|PMID:20042427|PMID:20226894|PMID:20558140|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24529773|PMID:25650408|PMID:25741868|PMID:25757662|PMID:26179811|PMID:27435932|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31019283|PMID:31043699|PMID:9536098 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:5419 schizophrenia ISO RGD:1350710 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:27435932|PMID:28492532 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350710 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9006030 Infant Death ISO RGD:1350710 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9007661 Dwarfism ISO RGD:1350710 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 621657 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1350710 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 621658 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:1540 parathyroid carcinoma ISO RGD:737396 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621658 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:737396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621658 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007633 Body Weight ISO RGD:737396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 621658 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737396 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 621658 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737396 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621659 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 621659 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1344636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621659 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344636 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 621659 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:9270 alkaptonuria ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 621660 Kcnj12 potassium inwardly-rectifying channel, subfamily J, member 12 gene DOID:11054 urinary bladder cancer ISO RGD:733298 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 621660 Kcnj12 potassium inwardly-rectifying channel, subfamily J, member 12 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733298 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 621660 Kcnj12 potassium inwardly-rectifying channel, subfamily J, member 12 gene DOID:9000918 Disease Progression ISO RGD:733298 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:0060476 Perlman syndrome ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:7240710 20140911 OMIM 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:7240710 20130221 OMIM 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:14791 Leber congenital amaurosis ISO RGD:734216 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:630 genetic disease ISO RGD:734216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621661 Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 gene DOID:8501 fundus dystrophy ISO RGD:734216 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 621662 Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 gene DOID:1826 epilepsy ISO RGD:731050 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 621662 Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 gene DOID:630 genetic disease ISO RGD:731050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621662 Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:1059 intellectual disability ISO RGD:733323 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:1612 breast cancer ISO RGD:733323 D RGD:727632|PMID:11827167 20161121 RGD 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:5844 myocardial infarction IEP D RGD:11565830|PMID:15090263 20161128 RGD 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:630 genetic disease ISO RGD:733323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:7240710 20190315 OMIM 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:28725024|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809|PMID:34038195 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:733324 D RGD:11565123|PMID:16651637 20161121 RGD 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733323 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733323 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:727632|PMID:11827167 20161121 RGD 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733324 D RGD:727632|PMID:11827167 20161121 RGD 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:733323 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:733323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:25741868 621663 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9008582 Developmental Disease ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:11574463|PMID:24395637|PMID:25741868|PMID:27048600|PMID:28135719|PMID:29383814 621664 Zfp423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:7240710 20140911 OMIM 621664 Zfp423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 PMID:17576681|PMID:22863007|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30868567|PMID:32723786|PMID:32925911|PMID:9536098 621664 Zfp423 zinc finger protein 423 gene DOID:2785 Dandy-Walker syndrome ISS RGD:734395 D RGD:13592920 20180518 MouseDO OMIM:220200 621664 Zfp423 zinc finger protein 423 gene DOID:2786 cerebellar disease ISS RGD:734395 D RGD:13592920 20180518 MouseDO 621664 Zfp423 zinc finger protein 423 gene DOID:630 genetic disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621664 Zfp423 zinc finger protein 423 gene DOID:670 amphetamine abuse ISO RGD:1344492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 621664 Zfp423 zinc finger protein 423 gene DOID:784 chronic kidney disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532|PMID:32723786 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:0050851 glomerulosclerosis susceptibility IEP D RGD:13524570|PMID:26606876 20180423 RGD associated with Hypertension 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:10763 hypertension IEP D RGD:2289116|PMID:17986358 20180423 RGD 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:10763 hypertension ISO RGD:732360 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1798635 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:10763 hypertension ISO RGD:732361 D RGD:13524579|PMID:14608379 20180424 RGD 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:11206 opioid abuse IEP D RGD:13524573|PMID:19664213 20180423 RGD 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18347610 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732360 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:365 bladder disease treatment IEP D RGD:9684972|PMID:19689474 20180416 RGD associated with hypertension 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:5082 liver cirrhosis IEP D RGD:10449440|PMID:19003918 20180423 RGD 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:630 genetic disease ISO RGD:732360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:724 female stress incontinence IEP D RGD:13524574|PMID:18372098 20180423 RGD 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:732360 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 621665 Rgs2 regulator of G-protein signaling 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732360 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621666 Blcap BLCAP, apoptosis inducing factor gene DOID:2234 focal epilepsy ISO RGD:1347383 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621666 Blcap BLCAP, apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1347383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621666 Blcap BLCAP, apoptosis inducing factor gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1347383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISS RGD:733446 D RGD:13592920 20180518 MouseDO OMIM:226600 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:0090001 Fraser syndrome ISS RGD:733446 D RGD:13592920 20181122 MouseDO OMIM:219000 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:7240710 20190315 OMIM 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:21383172|PMID:22510445|PMID:24033266|PMID:25741868|PMID:26539891|PMID:28492532 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1345662 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21383172|PMID:24033266|PMID:25741868|PMID:28492532 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:11836 clubfoot ISS RGD:733446 D RGD:13592920 20180518 MouseDO OMIM:119800 621667 Grip1 glutamate receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621668 Grip2 glutamate receptor interacting protein 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1354510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 621668 Grip2 glutamate receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1354510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621669 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0060476 Perlman syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 621669 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 621669 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734088 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 621669 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:630 genetic disease ISO RGD:734088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621670 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 621670 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:6480253|PMID:20066485 20120320 RGD 621670 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:6480254|PMID:16770606 20120320 RGD DNA:SNPs: :rs17599165, rs1912960,rs17599416,rs7660336, rs2280073,rs16859788 (human) 621670 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 gene DOID:630 genetic disease ISO RGD:734147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621670 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 gene DOID:9004866 Ataxia ISO RGD:734147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 621671 Ptbp3 polypyrimidine tract binding protein 3 gene DOID:630 genetic disease ISO RGD:732344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621672 Slc7a10 solute carrier family 7 member 10 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:731925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 621672 Slc7a10 solute carrier family 7 member 10 gene DOID:630 genetic disease ISO RGD:731925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621672 Slc7a10 solute carrier family 7 member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:731925 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 621673 Gli1 GLI family zinc finger 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1344225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 621673 Gli1 GLI family zinc finger 1 gene DOID:0060071 pre-malignant neoplasm IEP D RGD:150520178|PMID:30537251 20211101 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 621673 Gli1 GLI family zinc finger 1 gene DOID:0080016 spina bifida ISO RGD:1344225 D RGD:12801432|PMID:26446020 20170330 RGD protein:increased expression:brain 621673 Gli1 GLI family zinc finger 1 gene DOID:0080600 COVID-19 ISO RGD:1344225 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621673 Gli1 GLI family zinc finger 1 gene DOID:10283 prostate cancer ISO RGD:1344225 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621673 Gli1 GLI family zinc finger 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20179202 621673 Gli1 GLI family zinc finger 1 gene DOID:1793 pancreatic cancer ISO RGD:1344225 D RGD:5490966|PMID:18772397 20110926 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:1793 pancreatic cancer ISO RGD:1344225 D RGD:5491005|PMID:21186299 20110926 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344225 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 621673 Gli1 GLI family zinc finger 1 gene DOID:2377 multiple sclerosis ISO RGD:1344225 D RGD:12801440|PMID:18991353 20170331 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1344225 D RGD:12801443|PMID:15308259 20170331 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1344225 D RGD:151356500|PMID:26715268 20220208 RGD DNA:SNP::rs2228226(human) 621673 Gli1 GLI family zinc finger 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1344225 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 621673 Gli1 GLI family zinc finger 1 gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:1344225 D RGD:150340552|PMID:17259107 20210812 RGD protein:increased expression:stomach 621673 Gli1 GLI family zinc finger 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 621673 Gli1 GLI family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1344225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621673 Gli1 GLI family zinc finger 1 gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:1344225 D RGD:150340552|PMID:17259107 20210812 RGD protein:increased expression:stomach 621673 Gli1 GLI family zinc finger 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 621673 Gli1 GLI family zinc finger 1 gene DOID:6846 familial melanoma ISO RGD:1344225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 621673 Gli1 GLI family zinc finger 1 gene DOID:9000392 Fluoride Poisoning IEP D RGD:12879410|PMID:25623978 20170418 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:12859044|PMID:23933201 20170411 RGD mRNA, protein:increased expression:brain 621673 Gli1 GLI family zinc finger 1 gene DOID:9001044 Choroidal Neovascularization treatment IEP D RGD:12859045|PMID:21063852 20221130 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:12879456|PMID:25821409 20170420 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1550011 D RGD:12801440|PMID:18991353 20170331 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:7240710 20190529 OMIM 621673 Gli1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I PMID:25741868|PMID:30620395 621673 Gli1 GLI family zinc finger 1 gene DOID:9005329 Preaxial Polydactyly ISO RGD:1344225 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: POLYDACTYLY, PREAXIAL PMID:25741868|PMID:30620395 621673 Gli1 GLI family zinc finger 1 gene DOID:9005729 Chronic Experimental Pancreatitis IEP D RGD:12879405|PMID:24782623 20170418 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:7240710 20190315 OMIM 621673 Gli1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 PMID:25741868|PMID:28973407 621673 Gli1 GLI family zinc finger 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344225 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 621673 Gli1 GLI family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1344225 D RGD:150520174|PMID:22901214 20211101 RGD 621673 Gli1 GLI family zinc finger 1 gene DOID:9282 ocular hypertension IEP D RGD:2324982|PMID:20071678 20170410 RGD mRNA, protein:increased expression:retinal ganglion cell 621674 Puf60 poly-U binding splicing factor 60 gene DOID:0050834 CHARGE syndrome ISO RGD:731253 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:29300383 621674 Puf60 poly-U binding splicing factor 60 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 621674 Puf60 poly-U binding splicing factor 60 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 621674 Puf60 poly-U binding splicing factor 60 gene DOID:4621 holoprosencephaly ISO RGD:731253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 621674 Puf60 poly-U binding splicing factor 60 gene DOID:630 genetic disease ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:731253 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:25741868 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9002170 Experimental Neoplasms ISO RGD:731253 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21435101 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9003566 Mesothelioma ISO RGD:731253 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21435101 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:7240710 20140911 OMIM 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Verheij syndrome PMID:18414213|PMID:24140112|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:28492532|PMID:29300383|PMID:30352594 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:731253 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:29300383 621674 Puf60 poly-U binding splicing factor 60 gene DOID:9005749 Necrosis ISO RGD:731253 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21435101 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347215 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0080207 CAKUT2 treatment ISO RGD:1347215 D RGD:13204792|PMID:27448803 20170719 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1347215 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347215 D RGD:13204814|PMID:23185624 20170720 RGD protein:increased expression:cerebrospinal fluid 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10591 pre-eclampsia ISO RGD:1347215 D RGD:2290399|PMID:17083831 20080311 RGD mRNA, protein:increased expression:placenta 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension IEP D RGD:2290351|PMID:17977875 20080310 RGD mRNA, protein:increased expression:kidney 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:2312464|PMID:19506087 20090818 RGD protein:decreased expression:glomerulus 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10808 gastric ulcer IEP D RGD:10043177|PMID:15375341 20150518 RGD mRNA:increased expression:stomach 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10941 intracranial aneurysm IEP D RGD:2290352|PMID:17569872 20080310 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease IEP D RGD:2312465|PMID:19134282 20090818 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:1347215 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:13378 Kawasaki disease ISO RGD:1347215 D RGD:1580170|PMID:12626459 20140225 RGD protein:increased expression:blood 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:13580 cholestasis IEP D RGD:2290364|PMID:8707259 20080310 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1347215 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1347215 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased expression:aorta (human) 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:14250 Down syndrome ISO RGD:1347215 D RGD:13204810|PMID:24519975 20170719 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1485 cystic fibrosis ISO RGD:1347215 D RGD:13204794|PMID:25545245 20170719 RGD protein:increased expression:serum 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:2290343|PMID:18172859 20080310 RGD protein:increased expression:serum 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:2290345|PMID:17478562 20080310 RGD mRNA, protein:increased expression:breast 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:2290348|PMID:17114213 20080310 RGD mRNA, protein:increased expression:breast 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease IEP D RGD:2290353|PMID:17569694 20080310 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:182 calcinosis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731433 D RGD:242905202|PMID:31757932 20230328 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2006 preretinal fibrosis ISO RGD:1347215 D RGD:2312481|PMID:11004090 20090819 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1347215 D RGD:13204825|PMID:16412833 20170720 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1347215 D RGD:2298520|PMID:17695443 20080707 RGD protein:increased expression:serum 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1347215 D RGD:2290349|PMID:16901349 20080310 RGD protein:decreased expression:plasma 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1347215 D RGD:2298523|PMID:12487935 20080707 RGD protein:increased expression:endometrium 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13207319|PMID:25842729 20170725 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:13204970|PMID:23318412 20170724 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:4079 heart valve disease ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:417 autoimmune disease ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347215 D RGD:2290350|PMID:11595703 20080310 RGD protein:increased expression:kidney 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:57 aortic valve insufficiency ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:6000 congestive heart failure IEP D RGD:2290467|PMID:10773234 20080313 RGD protein:increased expression:heart left ventricle 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1347215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:799 varicose veins ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:893 Wilson disease ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26241054 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:90 degenerative disc disease treatment IDA D RGD:10043178|PMID:19063844 20150518 RGD associated with Renal Insufficiency 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347215 D RGD:2298523|PMID:12487935 20080707 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347215 D RGD:2290346|PMID:17407159 20080310 RGD associated with Breast Neoplasms;protein:increased expression:plasma 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9000998 Brain Injuries IEP D RGD:2290468|PMID:10719361 20080313 RGD mRNA:increased expression:brain, astrocytes 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2290364|PMID:8707259 20080310 RGD mRNA:increased expression:liver 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16507762|PMID:16718785|PMID:16762003|PMID:21163135|PMID:25380136 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001600 Wounds and Injuries IEP D RGD:1600154|PMID:16683235 20080312 RGD mRNA, protein:increased expression:dorsal root ganglion 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9002884 Emphysema treatment IEP D RGD:13207325|PMID:22633097 20170725 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:1318976 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005372 Inflammation ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2290354|PMID:17569353 20080310 RGD protein:increased expression:kidney 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:2312467|PMID:17192464 20090818 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9007096 Stroke IEP D RGD:2290356|PMID:9472898 20080310 RGD mRNA:increased expression:cerebral cortex 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9007480 Hyperoxia IEP D RGD:8547972|PMID:15128910 20140304 RGD protein:increased expression:lung 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731433 D RGD:13204791|PMID:24739303 20170719 RGD 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9351 diabetes mellitus ISO RGD:1347215 D RGD:2312464|PMID:19506087 20090818 RGD protein:decreased expression:glomerulus 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16023759 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:1580148|PMID:16005367 20090818 RGD protein:increased expression:plasma 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9446 cholangitis ISO RGD:1347215 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347215 D RGD:2312468|PMID:17020653 20090818 RGD protein:increased expression:serum 621675 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9970 obesity ISO RGD:1347215 D RGD:1642026|PMID:17512313 20090818 RGD protein:increased expression:plasma 621676 Acta2 actin alpha 2, smooth muscle gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1348351 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 621676 Acta2 actin alpha 2, smooth muscle gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA, protein:increases expression:mitral valve, heart (rat) 621676 Acta2 actin alpha 2, smooth muscle gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 621676 Acta2 actin alpha 2, smooth muscle gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1616012 D RGD:127285675|PMID:28100771 20210628 RGD mRNA:increased expression:liver (mouse) 621676 Acta2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ISO RGD:1348351 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Descending aortic dissection PMID:25741868 621676 Acta2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ameliorates ISO RGD:1616012 D RGD:156420156|PMID:33403385 20230219 RGD Apolipoprotein E knockout 621676 Acta2 actin alpha 2, smooth muscle gene DOID:11664 nephrosclerosis ISO RGD:1348351 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 621676 Acta2 actin alpha 2, smooth muscle gene DOID:13099 Moyamoya disease ISO RGD:1348351 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome PMID:25741868|PMID:28492532 621676 Acta2 actin alpha 2, smooth muscle gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20493835 621676 Acta2 actin alpha 2, smooth muscle gene DOID:13619 extrahepatic cholestasis ISO RGD:1348351 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:11069461|PMID:19639654 20170419 RGD DNA:missense mutation, deletion:cds: 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17994018 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:12879440|PMID:21212136 20170419 RGD DNA:missense mutation, insertion:cds: 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:31911919|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:36053285|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:289 endometriosis ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 621676 Acta2 actin alpha 2, smooth muscle gene DOID:326 ischemia ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 621676 Acta2 actin alpha 2, smooth muscle gene DOID:3770 pulmonary fibrosis ISO RGD:1348351 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30639579 621676 Acta2 actin alpha 2, smooth muscle gene DOID:409 liver disease ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 621676 Acta2 actin alpha 2, smooth muscle gene DOID:418 systemic scleroderma ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 621676 Acta2 actin alpha 2, smooth muscle gene DOID:4977 lymphedema ISO RGD:1348351 D RGD:12879442|PMID:21510802 20170419 RGD mRNA:increased expression:adipose tissue: 621676 Acta2 actin alpha 2, smooth muscle gene DOID:5082 liver cirrhosis ISO RGD:1348351 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:24239723|PMID:24321339|PMID:30097701|PMID:32659284 621676 Acta2 actin alpha 2, smooth muscle gene DOID:5199 ureteral obstruction ISO RGD:1348351 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 621676 Acta2 actin alpha 2, smooth muscle gene DOID:520 aortic disease ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:19409525|PMID:20734336|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:22752479|PMID:22946110|PMID:23613326|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26034244|PMID:26153420|PMID:27481187|PMID:27567161|PMID:27611364|PMID:28492532|PMID:29300374|PMID:29907982 621676 Acta2 actin alpha 2, smooth muscle gene DOID:557 kidney disease ISO RGD:1348351 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:19913069|PMID:31697999 621676 Acta2 actin alpha 2, smooth muscle gene DOID:5844 myocardial infarction ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 621676 Acta2 actin alpha 2, smooth muscle gene DOID:630 genetic disease ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621676 Acta2 actin alpha 2, smooth muscle gene DOID:65 connective tissue disease ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:19409525|PMID:20734336|PMID:20970362|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:29300374|PMID:31911919 621676 Acta2 actin alpha 2, smooth muscle gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1348351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:16199547|PMID:22237435|PMID:28492532 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9000784 Fibrosis ISO RGD:1348351 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:7240710 20140911 OMIM 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 5 PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:30341550|PMID:31911919|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:7240710 20140205 OMIM 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:16199547|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30056620|PMID:30341550|PMID:30975232|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:38599216|PMID:29323718 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26435214|PMID:26739621 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348351 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9006182 Carotid Artery Injuries ISO RGD:1616012 D RGD:329328927|PMID:25751394 20230425 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:7240710 20140911 OMIM 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:31911919|PMID:9536098 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9008510 Chronic Hepatitis ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348351 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9008691 Liver Injury IEP D RGD:12879446|PMID:24204762 20170419 RGD protein:increased expression:hepatic stellate cell:: 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9008939 Breast Neoplasms ISO RGD:1348351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 621676 Acta2 actin alpha 2, smooth muscle gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:17994018|PMID:19409525|PMID:19639654|PMID:21212136|PMID:21248741|PMID:24020716|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982 621677 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:7240710 20190315 OMIM 621677 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 31 PMID:25741868|PMID:30032984|PMID:30298696 621677 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:12336 male infertility ISS RGD:732904 D RGD:13592920 20181220 MouseDO 621677 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1345041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621678 Fads1 fatty acid desaturase 1 gene DOID:0080600 COVID-19 ISO RGD:1344024 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621678 Fads1 fatty acid desaturase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621678 Fads1 fatty acid desaturase 1 gene DOID:1059 intellectual disability ISO RGD:1344024 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621678 Fads1 fatty acid desaturase 1 gene DOID:10763 hypertension IEP D RGD:1625415|PMID:12144877 20070607 RGD 621678 Fads1 fatty acid desaturase 1 gene DOID:630 genetic disease ISO RGD:1344024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621678 Fads1 fatty acid desaturase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 621678 Fads1 fatty acid desaturase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625413|PMID:16099631 20070607 RGD 621678 Fads1 fatty acid desaturase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 621678 Fads1 fatty acid desaturase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344024 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 621678 Fads1 fatty acid desaturase 1 gene DOID:9970 obesity IEP D RGD:1625421|PMID:8446010 20070607 RGD protein:decreased expression:microsomes, liver 621679 Adgrf5 adhesion G protein-coupled receptor F5 gene DOID:630 genetic disease ISO RGD:1347693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621680 Mipep mitochondrial intermediate peptidase gene DOID:0050700 cardiomyopathy ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27799064|PMID:28492532 621680 Mipep mitochondrial intermediate peptidase gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 621680 Mipep mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:7240710 20190315 OMIM 621680 Mipep mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123 621680 Mipep mitochondrial intermediate peptidase gene DOID:10907 microcephaly ISO RGD:1344343 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 621680 Mipep mitochondrial intermediate peptidase gene DOID:1826 epilepsy ISO RGD:1344343 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 621680 Mipep mitochondrial intermediate peptidase gene DOID:5419 schizophrenia ISO RGD:1344343 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621680 Mipep mitochondrial intermediate peptidase gene DOID:607 paraplegia ISO RGD:1344343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 621680 Mipep mitochondrial intermediate peptidase gene DOID:630 genetic disease ISO RGD:1344343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26762739|PMID:28492532|PMID:33587123 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0050579 glycogen storage disease XV ISO RGD:1354000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0050830 peripheral artery disease ISO RGD:1354000 D RGD:1580188|PMID:14662702 19990101 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:7240710 20130221 OMIM 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis IMP D RGD:6480647|PMID:19692114 20120328 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:1354000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 621681 P2ry12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:733568 D RGD:1580187|PMID:12897207 19990101 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:1059 intellectual disability ISO RGD:1354000 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 621681 P2ry12 purinergic receptor P2Y12 gene DOID:1588 thrombocytopenia ISO RGD:733568 D RGD:6480523|PMID:21652673 20120327 RGD associated with Thrombosis 621681 P2ry12 purinergic receptor P2Y12 gene DOID:2213 hemorrhagic disease ISO RGD:1354000 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 621681 P2ry12 purinergic receptor P2Y12 gene DOID:2349 arteriosclerosis ISO RGD:733568 D RGD:6480535|PMID:19295309 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:1354000 D RGD:6480532|PMID:22010907 19990101 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:733568 D RGD:6480533|PMID:19822647 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:5844 myocardial infarction ISO RGD:1354000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19334620 621681 P2ry12 purinergic receptor P2Y12 gene DOID:630 genetic disease ISO RGD:1354000 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621681 P2ry12 purinergic receptor P2Y12 gene DOID:6713 cerebrovascular disease ISO RGD:1354000 D RGD:1580189|PMID:15933261 19990101 RGD associated with Peripheral Arterial Disease;DNA:polymorphism:exon:34C>T (human) 621681 P2ry12 purinergic receptor P2Y12 gene DOID:7693 abdominal aortic aneurysm IMP D RGD:6480528|PMID:19028049 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1354000 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia IMP D RGD:6480526|PMID:20136836 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:733568 D RGD:6480525|PMID:20398327 19990101 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9002457 Experimental Arthritis IMP D RGD:6480518|PMID:22028806 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354000 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9004610 Acute Lung Injury IMP D RGD:6480522|PMID:21841533 20120327 RGD associated with Shock, Hemorrhagic 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9005968 Neuralgia IMP D RGD:6480524|PMID:20665560 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1354000 D RGD:6480645|PMID:20431845 20120328 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9008217 Hemorrhage ISO RGD:1354000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11196645 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9008582 Developmental Disease ISO RGD:1354000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:6480537|PMID:15304052 20120327 RGD 621681 P2ry12 purinergic receptor P2Y12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354000 D RGD:6480536|PMID:15483100 20120327 RGD 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:7240710 20140911 OMIM 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:18414213|PMID:24462372|PMID:25326637|PMID:25741868|PMID:25741869|PMID:25741879|PMID:26138355|PMID:26350515|PMID:26986877|PMID:28492532|PMID:28963436|PMID:29410510|PMID:30755392|PMID:31393201|PMID:31729143|PMID:32275123|PMID:32407885|PMID:32712214 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:1826 epilepsy ISO RGD:732429 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:5119 ovarian cyst ISO RGD:732429 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:630 genetic disease ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26986877|PMID:28492532|PMID:32275123 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732429 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732429 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 621682 Nr2f1 nuclear receptor subfamily 2, group F, member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732429 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732355 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:732355 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:732355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732355 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 621683 Arfrp1 ADP-ribosylation factor related protein 1 gene DOID:630 genetic disease ISO RGD:732355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621684 Atox1 antioxidant 1 copper chaperone gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621684 Atox1 antioxidant 1 copper chaperone gene DOID:10763 hypertension ISO RGD:737338 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22753205 621684 Atox1 antioxidant 1 copper chaperone gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:732672 D RGD:13524567|PMID:19656261 20180423 RGD protein:increased expression:spinal chord 621684 Atox1 antioxidant 1 copper chaperone gene DOID:630 genetic disease ISO RGD:737338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621684 Atox1 antioxidant 1 copper chaperone gene DOID:9005172 Lung Neoplasms ISO RGD:737338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 621684 Atox1 antioxidant 1 copper chaperone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621684 Atox1 antioxidant 1 copper chaperone gene DOID:9008443 Colorectal Neoplasms ISO RGD:737338 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31961892 621684 Atox1 antioxidant 1 copper chaperone gene DOID:9008510 Chronic Hepatitis ISO RGD:737338 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 621685 Nr2f6 nuclear receptor subfamily 2, group F, member 6 gene DOID:289 endometriosis ISO RGD:733507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 621685 Nr2f6 nuclear receptor subfamily 2, group F, member 6 gene DOID:630 genetic disease ISO RGD:733507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621685 Nr2f6 nuclear receptor subfamily 2, group F, member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:733507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 621686 Dab2ip DAB2 interacting protein gene DOID:10126 keratoconus ISO RGD:732352 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 621686 Dab2ip DAB2 interacting protein gene DOID:10534 stomach cancer severity ISO RGD:732352 D RGD:151665151|PMID:31713929 20220311 RGD mRNA,protein:decreased expression:stomach (human) 621686 Dab2ip DAB2 interacting protein gene DOID:10534 stomach cancer susceptibility ISO RGD:732352 D RGD:151665146|PMID:23246699 20220311 RGD DNA:SNPs,haplotype:intron: (rs2243421) (human) 621686 Dab2ip DAB2 interacting protein gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:732352 D RGD:151665197|PMID:22046421 20220315 RGD DNA:SNP:intron 1:97906C>A (rs1571801) (human) 621686 Dab2ip DAB2 interacting protein gene DOID:341 peripheral vascular disease ISO RGD:732352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 621686 Dab2ip DAB2 interacting protein gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:732352 D RGD:151665168|PMID:30464518 20220315 RGD protein:decreased expression:esophagus (human) 621686 Dab2ip DAB2 interacting protein gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732352 D RGD:151665206|PMID:31849482 20220316 RGD protein:decreased expression:lung (human) 621686 Dab2ip DAB2 interacting protein gene DOID:5844 myocardial infarction ISO RGD:732352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 621686 Dab2ip DAB2 interacting protein gene DOID:630 genetic disease ISO RGD:732352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621686 Dab2ip DAB2 interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732352 D RGD:151665110|PMID:31176165 20220311 RGD mRNA:decreased expression:liver (human) 621686 Dab2ip DAB2 interacting protein gene DOID:684 hepatocellular carcinoma severity ISO RGD:732352 D RGD:151665148|PMID:22168621 20220311 RGD protein:decreased expression:liver (human) 621686 Dab2ip DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:732352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 621686 Dab2ip DAB2 interacting protein gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732352 D RGD:11531913|PMID:26336990 20220314 RGD associated with colorectal cancer;protein:decreased expression:colorectum (human) 621686 Dab2ip DAB2 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:732352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18073375 621686 Dab2ip DAB2 interacting protein gene DOID:9005172 Lung Neoplasms ISO RGD:732352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22046421 621686 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:1331914 D RGD:11556182|PMID:26564738 20220311 RGD 621686 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:732352 D RGD:11556182|PMID:26564738 20220311 RGD protein:decreased expression:colorectum (human) 621686 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:732352 D RGD:151665164|PMID:31081086 20220314 RGD protein:decreased expression:colorectum (human) 621686 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer treatment ISO RGD:732352 D RGD:151665166|PMID:30974224 20220314 RGD human cells in mouse model 621686 Dab2ip DAB2 interacting protein gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732352 D RGD:151665144|PMID:28586035 20220311 RGD mRNA,protein:decreased expression:epithelium of nasopharynx (human) 621686 Dab2ip DAB2 interacting protein gene DOID:9477 pulmonary embolism ISO RGD:732352 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 621688 Renbp renin binding protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621688 Renbp renin binding protein gene DOID:0050476 Barth syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621688 Renbp renin binding protein gene DOID:0050800 creatine transporter deficiency ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 621688 Renbp renin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 621688 Renbp renin binding protein gene DOID:0080600 COVID-19 ISO RGD:732186 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621688 Renbp renin binding protein gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 621688 Renbp renin binding protein gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 621688 Renbp renin binding protein gene DOID:0111788 Melnick-Needles syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 621688 Renbp renin binding protein gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 621688 Renbp renin binding protein gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:732186 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 621688 Renbp renin binding protein gene DOID:0112003 immunodeficiency 33 ISO RGD:732186 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 621688 Renbp renin binding protein gene DOID:10588 adrenoleukodystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621688 Renbp renin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621688 Renbp renin binding protein gene DOID:12849 autistic disorder ISO RGD:732186 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621688 Renbp renin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:732186 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12612874 621688 Renbp renin binding protein gene DOID:13628 favism ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 621688 Renbp renin binding protein gene DOID:2729 dyskeratosis congenita ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 621688 Renbp renin binding protein gene DOID:607 paraplegia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621688 Renbp renin binding protein gene DOID:630 genetic disease ISO RGD:732186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621688 Renbp renin binding protein gene DOID:9002720 Splenomegaly ISO RGD:732186 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 621688 Renbp renin binding protein gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 621688 Renbp renin binding protein gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 621689 Pou2f1 POU class 2 homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344654 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621689 Pou2f1 POU class 2 homeobox 1 gene DOID:630 genetic disease ISO RGD:1344654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621689 Pou2f1 POU class 2 homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344654 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1347223 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1347223 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1347223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347223 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1347223 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 621690 Pou2f2 POU class 2 homeobox 2 gene DOID:9269 maple syrup urine disease ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0080690 RASopathy ISO RGD:1351293 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:5419 schizophrenia ISO RGD:1351293 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1351293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351293 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621691 Pou2f3 POU class 2 homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1351293 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 621692 Tmem14c transmembrane protein 14C gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1313920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 621692 Tmem14c transmembrane protein 14C gene DOID:630 genetic disease ISO RGD:1313920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621693 Aspa aspartoacylase gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350952 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 621693 Aspa aspartoacylase gene DOID:1059 intellectual disability ISO RGD:1350952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 621693 Aspa aspartoacylase gene DOID:3613 Canavan disease IAGP D RGD:1599298|PMID:15857674 20070129 RGD 621693 Aspa aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17027983|PMID:17194761 621693 Aspa aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:7240710 20130221 OMIM 621693 Aspa aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18978679|PMID:19685155|PMID:19932039|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27102039|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9537412|PMID:9887384 621693 Aspa aspartoacylase gene DOID:3613 Canavan disease susceptibility ISO RGD:1350952 D RGD:1599291|PMID:8252036 20070129 RGD 621693 Aspa aspartoacylase gene DOID:630 genetic disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27102039|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9537412|PMID:9887384 621693 Aspa aspartoacylase gene DOID:9000495 Tremor IMP D RGD:13464274|PMID:27026062 20180103 RGD associated with Hcn1A354V allele 621693 Aspa aspartoacylase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1350952 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 621693 Aspa aspartoacylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733059 D RGD:1601247|PMID:16707098 20070411 RGD protein:increased expression:duodenum, brain 621693 Aspa aspartoacylase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1350952 D RGD:8554872 20210622 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 621694 Rassf5 Ras association domain family member 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 621694 Rassf5 Ras association domain family member 5 gene DOID:12849 autistic disorder ISO RGD:1606212 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621694 Rassf5 Ras association domain family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606212 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621694 Rassf5 Ras association domain family member 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606212 D RGD:13503325|PMID:20434789 20180110 RGD 621694 Rassf5 Ras association domain family member 5 gene DOID:630 genetic disease ISO RGD:1606212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621694 Rassf5 Ras association domain family member 5 gene DOID:769 neuroblastoma ISO RGD:1606212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18452173 621694 Rassf5 Ras association domain family member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:1606212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217643 621694 Rassf5 Ras association domain family member 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 621694 Rassf5 Ras association domain family member 5 gene DOID:9074 systemic lupus erythematosus ISS RGD:733134 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 621694 Rassf5 Ras association domain family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606212 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621695 Gp2 glycoprotein 2 gene DOID:630 genetic disease ISO RGD:737446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621695 Gp2 glycoprotein 2 gene DOID:9007633 Body Weight ISO RGD:737446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 621695 Gp2 glycoprotein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737446 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 621696 Srek1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:1352789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621696 Srek1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352789 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621697 Rabggta Rab geranylgeranyltransferase subunit alpha gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 621697 Rabggta Rab geranylgeranyltransferase subunit alpha gene DOID:3753 Hermansky-Pudlak syndrome ISS RGD:735604 D RGD:13592920 20180518 MouseDO 621697 Rabggta Rab geranylgeranyltransferase subunit alpha gene DOID:630 genetic disease ISO RGD:1345525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621697 Rabggta Rab geranylgeranyltransferase subunit alpha gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 621697 Rabggta Rab geranylgeranyltransferase subunit alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345525 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621699 Slc22a7 solute carrier family 22 member 7 gene DOID:0050444 infantile Refsum disease ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 621699 Slc22a7 solute carrier family 22 member 7 gene DOID:630 genetic disease ISO RGD:732686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621699 Slc22a7 solute carrier family 22 member 7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732686 D RGD:152995291|PMID:28347776 20220614 RGD DNA:SNP:cds:rs2270860|rs4149178 (human) 621699 Slc22a7 solute carrier family 22 member 7 gene DOID:905 Zellweger syndrome ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 621700 Sftpb surfactant protein B gene DOID:0050848 obstructive sleep apnea ISO RGD:737197 D RGD:151667446|PMID:25953386 20220411 RGD protein:decreased expression:serum: 621700 Sftpb surfactant protein B gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 621700 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:1624152|PMID:8163685 20070503 RGD associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human) 621700 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:4143414|PMID:12515908 20100923 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human) 621700 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737198 D RGD:4143410|PMID:12639841 20100923 RGD 621700 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737198 D RGD:4143460|PMID:1622844 20100923 RGD 621700 Sftpb surfactant protein B gene DOID:11339 pneumocystosis ISO RGD:737198 D RGD:4143431|PMID:11385364 20100923 RGD protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:4143379|PMID:17662121 20100922 RGD protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:4143404|PMID:15190959 20100922 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) 621700 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:4143447|PMID:9351625 20100923 RGD protein:increased expression:plasma 621700 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:4143408|PMID:14718442 20100923 RGD associated with Lung Injury;DNA:polymorphism:intron (human) 621700 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:4143384|PMID:17264398 20100922 RGD 621700 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:4143405|PMID:15102713 20100922 RGD DNA:deletion:intron (human) 621700 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:11085373|PMID:26045806 20220411 RGD DNA:SNPs:5'UTR,exon: 621700 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:4143418|PMID:12424586 20100923 RGD DNA:polymorphism:intron (human) 621700 Sftpb surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:4143392|PMID:16042774 20100922 RGD protein:altered processing:lung 621700 Sftpb surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:4143411|PMID:12612307 20100923 RGD protein:increased expression:blood 621700 Sftpb surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737198 D RGD:4143454|PMID:7654386 20100923 RGD protein:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome IEP D RGD:4143428|PMID:11504697 20100923 RGD mRNA, protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:4143376|PMID:18353230 20100922 RGD 621700 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:4143416|PMID:12490037 20100923 RGD 621700 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:4143455|PMID:7832777 20100923 RGD DNA:polymorphism:intron (human) 621700 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:4143418|PMID:12424586 20100923 RGD DNA:polymorphism:intron (human) 621700 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:4143433|PMID:11063734 20100923 RGD DNA:polymorphism: :p.T131I (human) 621700 Sftpb surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737197 D RGD:4143439|PMID:10194154 20100923 RGD protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:737197 D RGD:4143382|PMID:17498296 20100922 RGD DNA:SNPs:promoter, cds, intron:-32G>T (rs2077079), p.T131I (rs1130866), 5781A>C (rs2040349) (human) 621700 Sftpb surfactant protein B gene DOID:1324 lung cancer ISO RGD:737197 D RGD:151667422|PMID:24248694 20220407 RGD 621700 Sftpb surfactant protein B gene DOID:1324 lung cancer disease_progression ISO RGD:737197 D RGD:151667423|PMID:28743125 20220407 RGD 621700 Sftpb surfactant protein B gene DOID:14115 toxic shock syndrome ISO RGD:737197 D RGD:4143404|PMID:15190959 20100922 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) 621700 Sftpb surfactant protein B gene DOID:1485 cystic fibrosis ISO RGD:737197 D RGD:4143381|PMID:17507829 20100922 RGD mRNA:increased expression:respiratory system mucosa 621700 Sftpb surfactant protein B gene DOID:2841 asthma IEP D RGD:4143398|PMID:15816355 20100922 RGD protein:decreased expression:lung, Clara cell 621700 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:737197 D RGD:4143462|PMID:16629790 20100924 RGD protein:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:4143289|PMID:18926058 20100921 RGD 621700 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:4143465|PMID:11472974 20100924 RGD mRNA, protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:2914 immune system disease ISO RGD:737198 D RGD:4143286|PMID:19201882 20100921 RGD associated with Pneumonia, Pneumocystis carinii;protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:4143377|PMID:18263595 20100922 RGD associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human) 621700 Sftpb surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:4143430|PMID:11445799 20100923 RGD protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737197 D RGD:4143396|PMID:15817713 20100922 RGD DNA:SNP: :p.T131I (rs1130866) (human) 621700 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737197 D RGD:4143290|PMID:18550614 20100921 RGD DNA:SNPs: :multiple (human) 621700 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737197 D RGD:4143402|PMID:15315329 20100922 RGD DNA:polymorphism: :1580C>T (human) 621700 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737197 D RGD:4143423|PMID:11589345 20100923 RGD DNA:polymorphism: :1580C>T (human) 621700 Sftpb surfactant protein B gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:737197 D RGD:4143409|PMID:13680361 20100923 RGD DNA:polymorphism (human) 621700 Sftpb surfactant protein B gene DOID:3827 congenital diaphragmatic hernia treatment IEP D RGD:151667435|PMID:11051153 20220408 RGD 621700 Sftpb surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:151667424|PMID:12107845 20220407 RGD DNA:variants:intron: 621700 Sftpb surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:4143389|PMID:16570259 20100922 RGD DNA:polymorphism:intron (human) 621700 Sftpb surfactant protein B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:737197 D RGD:151667418|PMID:31016788 20220407 RGD DNA:SNPs: :rs7316, rs9752 (human) 621700 Sftpb surfactant protein B gene DOID:552 pneumonia ISO RGD:737197 D RGD:4143393|PMID:16024721 20100922 RGD 621700 Sftpb surfactant protein B gene DOID:552 pneumonia ISO RGD:737198 D RGD:4143394|PMID:15967375 20100922 RGD 621700 Sftpb surfactant protein B gene DOID:552 pneumonia ISO RGD:737198 D RGD:4143412|PMID:12594064 20100923 RGD 621700 Sftpb surfactant protein B gene DOID:630 genetic disease ISO RGD:737197 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621700 Sftpb surfactant protein B gene DOID:630 genetic disease ISO RGD:737198 D RGD:4143399|PMID:15790974 20100922 RGD Hermansky-Pudlak syndrome;protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:850 lung disease IEP D RGD:4143287|PMID:19099817 20100921 RGD associated with Hyperoxia;mRNA:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:850 lung disease IEP D RGD:4143446|PMID:9374572 20100923 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 621700 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:4143392|PMID:16042774 20100922 RGD protein:altered processing:lung 621700 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:4143451|PMID:8569184 20100923 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte 621700 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:4143463|PMID:16274485 20100924 RGD associated with Cystic Fibrosis;protein:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737198 D RGD:4143390|PMID:16309574 20100922 RGD Acute Lung Injury 621700 Sftpb surfactant protein B gene DOID:874 bacterial pneumonia IEP D RGD:4143464|PMID:12169586 20100924 RGD protein:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:737197 D RGD:4143403|PMID:15271694 20100922 RGD associated with Cystic Fibrosis;protein:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737198 D RGD:4143407|PMID:14748931 20100922 RGD protein:decreased expression:lung 621700 Sftpb surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:7240710 20130221 OMIM 621700 Sftpb surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:10378403|PMID:10571948|PMID:10712351|PMID:10960490|PMID:21965505|PMID:23625987|PMID:24033266|PMID:25741868|PMID:26199800|PMID:28492532|PMID:28888561|PMID:7491219|PMID:8163685|PMID:9506635|PMID:9682215|PMID:9973546 621700 Sftpb surfactant protein B gene DOID:9001049 Staphylococcal Pneumonia ameliorates ISO RGD:737197 D RGD:151667448|PMID:20007532 20220411 RGD 621700 Sftpb surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ISO RGD:737197 D RGD:151667447|PMID:10378403 20220411 RGD DNA:mutations: : 621700 Sftpb surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ameliorates ISO RGD:737197 D RGD:151667445|PMID:28581337 20220411 RGD 621700 Sftpb surfactant protein B gene DOID:9003953 Surfactant Dysfunction ISO RGD:737197 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:10571948|PMID:10712351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28888561|PMID:7491219|PMID:9506635|PMID:9973546 621700 Sftpb surfactant protein B gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:151667443|PMID:22295533 20220408 RGD 621700 Sftpb surfactant protein B gene DOID:9005172 Lung Neoplasms ISO RGD:737197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16570259 621700 Sftpb surfactant protein B gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:737197 D RGD:151667448|PMID:20007532 20220411 RGD 621700 Sftpb surfactant protein B gene DOID:9007480 Hyperoxia IEP D RGD:4143429|PMID:11472975 20100923 RGD mRNA:increased expression:lung 621700 Sftpb surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:737198 D RGD:4143438|PMID:10502556 20100923 RGD 621700 Sftpb surfactant protein B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 621700 Sftpb surfactant protein B gene DOID:9970 obesity IEP D RGD:4143472|PMID:15136884 20100924 RGD protein:increased expression:lung 621701 Opn4 opsin 4 gene DOID:630 genetic disease ISO RGD:1349299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621703 Foxc2 forkhead box C2 gene DOID:0060260 ptosis ISO RGD:1347315 D RGD:1601216|PMID:11371511 20070411 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA 621703 Foxc2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11078474 621703 Foxc2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:7240710 20130425 OMIM 621703 Foxc2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome PMID:10417285|PMID:11078474|PMID:11371511|PMID:11499682|PMID:12114478|PMID:12485195|PMID:16081467|PMID:18197197|PMID:19760751|PMID:20301630|PMID:22768468|PMID:24278289|PMID:25252123|PMID:25741868|PMID:27276711|PMID:28492532 621703 Foxc2 forkhead box C2 gene DOID:0111985 immunodeficiency 32B ISO RGD:1347315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 621703 Foxc2 forkhead box C2 gene DOID:10952 nephritis ISO RGD:1347315 D RGD:1601217|PMID:15523639 20070411 RGD DNA:insertion:1006insA 621703 Foxc2 forkhead box C2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347315 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 621703 Foxc2 forkhead box C2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347315 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 621703 Foxc2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:1601216|PMID:11371511 20070411 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA 621703 Foxc2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:1601217|PMID:15523639 20070411 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA 621703 Foxc2 forkhead box C2 gene DOID:530 eyelid disease ISO RGD:1347315 D RGD:1601217|PMID:15523639 20070411 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA 621703 Foxc2 forkhead box C2 gene DOID:6000 congestive heart failure ISO RGD:1347315 D RGD:1582564|PMID:16952980 20061113 RGD 621703 Foxc2 forkhead box C2 gene DOID:630 genetic disease ISO RGD:1347315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621703 Foxc2 forkhead box C2 gene DOID:6419 tetralogy of Fallot ISO RGD:1347315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 621703 Foxc2 forkhead box C2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9409679 621703 Foxc2 forkhead box C2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1347315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9106663 621703 Foxc2 forkhead box C2 gene DOID:9007294 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus ISO RGD:1347315 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus PMID:15523639 621703 Foxc2 forkhead box C2 gene DOID:9007692 Insulin Resistance ISO RGD:1347315 D RGD:1601219|PMID:12453913 20070411 RGD DNA:polymorphism:5'ut:-512C>T 621703 Foxc2 forkhead box C2 gene DOID:9008386 Hydrops Fetalis ISO RGD:1347315 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 621703 Foxc2 forkhead box C2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9106663|PMID:9409679 621703 Foxc2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347315 D RGD:1601217|PMID:15523639 20070411 RGD DNA:insertion:1006insA 621703 Foxc2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347315 D RGD:1601220|PMID:12540636 20070411 RGD DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T 621703 Foxc2 forkhead box C2 gene DOID:9970 obesity ISO RGD:1347315 D RGD:1601218|PMID:15601967 20070411 RGD DNA:polymorphism:5'ut:-512C>T(human) 621704 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1059 intellectual disability ISO RGD:733376 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621704 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1875 impotence ISO RGD:733376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 621704 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:2661 myoepithelioma ISO RGD:733376 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 621704 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 621704 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:630 genetic disease ISO RGD:733376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621704 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 621705 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353575 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 621705 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1353575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 621705 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:5339 cyclic hematopoiesis ISO RGD:1353575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 621705 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:630 genetic disease ISO RGD:1353575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621705 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353575 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621706 Ythdc1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:630 genetic disease ISO RGD:732940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621706 Ythdc1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732940 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 621708 Pip4k2a phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:1909 melanoma ISO RGD:734348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 621708 Pip4k2a phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:734348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:0050877 pancreatic agenesis ISO RGD:1346483 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:22158542|PMID:24212882 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:25741868|PMID:28492532 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:2786 cerebellar disease ISO RGD:1346483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:19650412 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:630 genetic disease ISO RGD:1346483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:19650412 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:7240710 20130425 OMIM 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS PMID:10507728|PMID:15543146|PMID:18591390|PMID:20065546|PMID:21749365|PMID:25741868|PMID:25775927|PMID:28492532 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346483 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21182459 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:7240710 20200226 OMIM 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868|PMID:25775927|PMID:28492532 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9351 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:25775927|PMID:28492532 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 621709 Ptf1a pancreas associated transcription factor 1a gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:18591390|PMID:28492532 621710 Pip4k2b phosphatidylinositol-5-phosphate 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:736672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621711 Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:607 paraplegia ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 621711 Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:630 genetic disease ISO RGD:733243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621711 Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:6846 familial melanoma ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 621712 Foxd1 forkhead box D1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343882 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 621712 Foxd1 forkhead box D1 gene DOID:630 genetic disease ISO RGD:1343882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621712 Foxd1 forkhead box D1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343882 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621713 Ero1a endoplasmic reticulum oxidoreductase 1 alpha gene DOID:630 genetic disease ISO RGD:1317870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621713 Ero1a endoplasmic reticulum oxidoreductase 1 alpha gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:632668|PMID:12694393 20150928 RGD mRNA:increased expression:hippocampus 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0050562 West syndrome ISO RGD:733239 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733239 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:24183451|PMID:28492532|PMID:29068549 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28166811|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:35150594|PMID:9536098 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0050952 spastic ataxia ISO RGD:733239 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:733239 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29050398|PMID:31474318|PMID:32963807 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:7240710 20130221 OMIM 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 PMID:11911890|PMID:17576681|PMID:18414213|PMID:20228407|PMID:20493457|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:30548380|PMID:31474318|PMID:32811770|PMID:32963807|PMID:36331550|PMID:9536098 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:29068549|PMID:33578420 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:35150594|PMID:9536098 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:1059 intellectual disability ISO RGD:733239 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:10907 microcephaly ISO RGD:733239 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:12377 spinal muscular atrophy ISO RGD:733239 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:28492532|PMID:30548380|PMID:31332438|PMID:32811770|PMID:33578420|PMID:34590414 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:1289 neurodegenerative disease ISO RGD:733239 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25015659 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611|PMID:33818783 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33818783 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733239 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25224718|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:574 peripheral nervous system disease ISO RGD:733239 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:733239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11911890|PMID:17331725|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19348700|PMID:20228407|PMID:20493457|PMID:22159418|PMID:22258530|PMID:22429196|PMID:22632975|PMID:22656320|PMID:23390136|PMID:24896178|PMID:25108116|PMID:25224718|PMID:25477152|PMID:25613900|PMID:25631096|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:28567303|PMID:29050398|PMID:29358611|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733239 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:870 neuropathy ISO RGD:733239 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733239 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:733239 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:25741868|PMID:28492532 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:29050398 621714 Sptan1 spectrin, alpha, non-erythrocytic 1 gene DOID:9008582 Developmental Disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 621715 Foxd3 forkhead box D3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1347778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 621715 Foxd3 forkhead box D3 gene DOID:1059 intellectual disability ISO RGD:1347778 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 621715 Foxd3 forkhead box D3 gene DOID:12306 vitiligo ISO RGD:1347778 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 621715 Foxd3 forkhead box D3 gene DOID:12306 vitiligo ISO RGD:1347778 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 PMID:16098053 621715 Foxd3 forkhead box D3 gene DOID:12306 vitiligo susceptibility ISO RGD:1347778 D RGD:7240710 20190502 OMIM 621715 Foxd3 forkhead box D3 gene DOID:1686 glaucoma ISO RGD:1347778 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 621715 Foxd3 forkhead box D3 gene DOID:630 genetic disease ISO RGD:1347778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621716 Foxd4 forkhead box D4 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1346778 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 621716 Foxd4 forkhead box D4 gene DOID:5419 schizophrenia ISO RGD:1346778 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621716 Foxd4 forkhead box D4 gene DOID:630 genetic disease ISO RGD:1346778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621717 Txnl1 thioredoxin-like 1 gene DOID:630 genetic disease ISO RGD:1354026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621718 Gpr176 G protein-coupled receptor 176 gene DOID:2717 Bloom syndrome ISO RGD:737562 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621718 Gpr176 G protein-coupled receptor 176 gene DOID:630 genetic disease ISO RGD:737562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621718 Gpr176 G protein-coupled receptor 176 gene DOID:9256 colorectal cancer ISO RGD:737562 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621719 Caly calcyon neuron-specific vesicular protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1601759 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 621719 Caly calcyon neuron-specific vesicular protein gene DOID:10825 essential hypertension ISO RGD:1601759 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 621719 Caly calcyon neuron-specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder IEP D RGD:15092092|PMID:19690230 20200106 RGD 621719 Caly calcyon neuron-specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 621719 Caly calcyon neuron-specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:15092091|PMID:16172615 20200106 RGD DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human) 621719 Caly calcyon neuron-specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:15092089|PMID:12622665 20200106 RGD protein:increased expression:prefrontal cortex 621719 Caly calcyon neuron-specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:15097510|PMID:16786528 20200106 RGD mRNA:increased expression:brain 621719 Caly calcyon neuron-specific vesicular protein gene DOID:630 genetic disease ISO RGD:1601759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621719 Caly calcyon neuron-specific vesicular protein gene DOID:9006205 Animal Disease Models ISO RGD:1601759 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 621719 Caly calcyon neuron-specific vesicular protein gene DOID:9008023 Memory Disorders ISO RGD:1601759 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 621720 Gpt glutamic--pyruvic transaminase gene DOID:0050654 Baller-Gerold syndrome ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 621720 Gpt glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734191 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 621720 Gpt glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734191 D RGD:14975251|PMID:22922605 20191003 RGD protein:increased activity:plasma 621720 Gpt glutamic--pyruvic transaminase gene DOID:0080208 non-alcoholic fatty liver disease severity ISO RGD:734191 D RGD:14975160|PMID:24768200 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:0080546 non-alcoholic fatty liver ISO RGD:734192 D RGD:14975250|PMID:18710424 20191003 RGD protein:increased expression:liver,serum 621720 Gpt glutamic--pyruvic transaminase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 621720 Gpt glutamic--pyruvic transaminase gene DOID:0111670 primary hyperoxaluria type 1 treatment ISO RGD:734192 D RGD:13782155|PMID:27239044 20180823 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:3571 liver cancer treatment ISO RGD:734191 D RGD:14975251|PMID:22922605 20191003 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:409 liver disease ISO RGD:734191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25455894 621720 Gpt glutamic--pyruvic transaminase gene DOID:4621 holoprosencephaly ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 621720 Gpt glutamic--pyruvic transaminase gene DOID:5082 liver cirrhosis severity ISO RGD:734191 D RGD:14975252|PMID:30665287 20191003 RGD associated with Hepatitis B, Chronic; 621720 Gpt glutamic--pyruvic transaminase gene DOID:630 genetic disease ISO RGD:734191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621720 Gpt glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 621720 Gpt glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:8552768|PMID:22706148 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9003018 Halothane Hepatitis treatment IEP D RGD:14975164|PMID:28921207 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9004009 Reperfusion Injury ISO RGD:734191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8215636 621720 Gpt glutamic--pyruvic transaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:734191 D RGD:14975251|PMID:22922605 20191003 RGD protein:increased activity:plasma 621720 Gpt glutamic--pyruvic transaminase gene DOID:9004484 Sepsis treatment IEP D RGD:14975161|PMID:26814114 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9004590 Acute Liver Failure ISO RGD:734191 D RGD:14975169|PMID:28513770 20191001 RGD protein:increased expression:blood 621720 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:14975249|PMID:19085960 20191003 RGD protein:increased expression, activity:serum: 621720 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:145039|PMID:19481104 621720 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734192 D RGD:14975249|PMID:19085960 20191003 RGD protein:increased expression, activity:serum: 621720 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:14975166|PMID:21772750 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:14975168|PMID:27293452 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734192 D RGD:14975162|PMID:28487901 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:734191 D RGD:14975240|PMID:28007350 20191002 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:734191 D RGD:14975159|PMID:29279233 20191001 RGD 621720 Gpt glutamic--pyruvic transaminase gene DOID:9352 type 2 diabetes mellitus IEP D RGD:11342811|PMID:25865565 20191003 RGD protein:increased expression, activity:liver: 621720 Gpt glutamic--pyruvic transaminase gene DOID:9452 fatty liver disease ISO RGD:734191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19481104 621720 Gpt glutamic--pyruvic transaminase gene DOID:9452 fatty liver disease ISO RGD:734191 D RGD:14975167|PMID:30185098 20191001 RGD protein:increased expression:serum 621721 Avpi1 arginine vasopressin-induced 1 gene DOID:630 genetic disease ISO RGD:1353971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621721 Avpi1 arginine vasopressin-induced 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353971 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 621722 Fbxl20 F-box and leucine-rich repeat protein 20 gene DOID:630 genetic disease ISO RGD:1345687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621723 Foxe1 forkhead box E1 gene DOID:0050328 congenital hypothyroidism ISS RGD:735500 D RGD:13592920 20180518 MouseDO 621723 Foxe1 forkhead box E1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 621723 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16884476 621723 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:7240710 20130221 OMIM 621723 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bamforth-Lazarus syndrome PMID:12165566|PMID:16882747|PMID:21177256|PMID:25381600|PMID:25741868|PMID:28492532|PMID:2918525|PMID:35963604|PMID:9697705 621723 Foxe1 forkhead box E1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 621723 Foxe1 forkhead box E1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 621723 Foxe1 forkhead box E1 gene DOID:1059 intellectual disability ISO RGD:735499 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621723 Foxe1 forkhead box E1 gene DOID:12712 nephronophthisis ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 621723 Foxe1 forkhead box E1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 621723 Foxe1 forkhead box E1 gene DOID:630 genetic disease ISO RGD:735499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621723 Foxe1 forkhead box E1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735499 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 621723 Foxe1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:7240710 20180418 OMIM 621723 Foxe1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 PMID:25381600 621724 Oat ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:1600292|PMID:3339136 20070306 RGD 621724 Oat ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:7240710 20131030 OMIM 621724 Oat ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:10617919|PMID:11297489|PMID:12221166|PMID:1301936|PMID:1427882|PMID:1487247|PMID:15750329|PMID:1609808|PMID:1612597|PMID:16151897|PMID:1618792|PMID:16199547|PMID:1737786|PMID:17576681|PMID:1992472|PMID:22182799|PMID:2220818|PMID:22674428|PMID:2276738|PMID:23076989|PMID:24082780|PMID:24429551|PMID:2492100|PMID:25640679|PMID:2565038|PMID:25741868|PMID:26259030|PMID:27037922|PMID:2793865|PMID:27978498|PMID:28181551|PMID:28388263|PMID:28468868|PMID:28492532|PMID:2916581|PMID:29654911|PMID:29757052|PMID:30366948|PMID:30957963|PMID:31456290|PMID:3170546|PMID:33090715|PMID:3339136|PMID:3375240|PMID:3417397|PMID:34395527|PMID:7668253|PMID:7887415|PMID:8125717|PMID:8281144|PMID:8430317|PMID:8670789|PMID:9536098 621724 Oat ornithine aminotransferase gene DOID:5723 optic atrophy ISO RGD:1350711 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 621724 Oat ornithine aminotransferase gene DOID:630 genetic disease ISO RGD:1350711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621724 Oat ornithine aminotransferase gene DOID:8501 fundus dystrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:1609808|PMID:16199547|PMID:1737786|PMID:22674428|PMID:23076989|PMID:25741868|PMID:28492532|PMID:3339136 621724 Oat ornithine aminotransferase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 621724 Oat ornithine aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621724 Oat ornithine aminotransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1350711 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0014667 disease of metabolism IEP D RGD:4142786|PMID:10469394 20130419 RGD Acute Lysosomal Thesaurismosis;protein: increased expression:kidney proximal tubule epithelial cell, lysosome (rat) 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:10733 D RGD:6218980|PMID:21135124 20120307 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0081267 graft-versus-host disease IEP D RGD:7242787|PMID:9557158 20130423 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:1073 renal hypertension ISO RGD:736219 D RGD:7242785|PMID:21475814 20130423 RGD DNA: snp: 5'utr: -110A>C 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:10763 hypertension ISO RGD:736219 D RGD:6480224|PMID:17341625 20120316 RGD mRNA: increased expression: leukocyte 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:12858 Huntington's disease ISO RGD:10733 D RGD:5688778|PMID:22171050 20120306 RGD protein: increased expression 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease IEP D RGD:6480228|PMID:17241115 20120316 RGD protein: increased expression: brain 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:6218982|PMID:20697033 20120307 RGD protein: decreased expression 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:6480203|PMID:18704197 20120314 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:1749 squamous cell carcinoma ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:224 transient cerebral ischemia IEP D RGD:10059344|PMID:9425004 20150813 RGD protein:increased expression:brain, postsynaptic density (rat) 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:2316 brain ischemia IEP D RGD:6480229|PMID:16805800 20120316 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:2377 multiple sclerosis ISO RGD:736219 D RGD:6480236|PMID:16303141 20120319 RGD protein: increased expression: cerebrospinal fluid 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736219 D RGD:5688780|PMID:21824468 20120306 RGD protein: increased expression 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:299 adenocarcinoma ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:3021 acute kidney failure IEP D RGD:7242786|PMID:14966137 20130423 RGD protein:increased expression:kidney, lysosome (rat) 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736219 D RGD:151660329|PMID:32663515 20220303 RGD protein:decreased expression:blood (human) 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:4362 cervical cancer ISO RGD:736219 D RGD:6218976|PMID:21137014 20120307 RGD Protein: increased expression 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:4448 macular degeneration ISO RGD:736219 D RGD:6478714|PMID:19684010 20120308 RGD mRNA: increased expression: white blood cells 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:5419 schizophrenia ISO RGD:736219 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:630 genetic disease ISO RGD:736219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736219 D RGD:7242762|PMID:17330940 20130419 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10216529 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736219 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004590 Acute Liver Failure IEP D RGD:4891447|PMID:15270078 20150818 RGD mRNA:increased expression:liver (rat) 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004626 Ocular Paraneoplastic Syndromes IDA D RGD:10059329|PMID:10586938 20150812 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7242788|PMID:7569112 20130423 RGD 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9007364 Mouth Neoplasms ISO RGD:736219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:10059389|PMID:12376827 20150814 RGD protein:altered localization:liver (rat) 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9007661 Dwarfism ISO RGD:736219 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 621725 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:736219 D RGD:6480104|PMID:19578980 20120313 RGD protein: increased expression: serum 621727 Foxe3 forkhead box E3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316815 D RGD:1598957|PMID:11159941 20070108 RGD DNA:insertion:cds:c.943_944insG (human) 621727 Foxe3 forkhead box E3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:11159941|PMID:16826526|PMID:20140963|PMID:20361012|PMID:24689660|PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435|PMID:32499604|PMID:34046667 621727 Foxe3 forkhead box E3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:28492532 621727 Foxe3 forkhead box E3 gene DOID:0080607 anterior segment dysgenesis 2 ISO RGD:1316815 D RGD:7240710 20230517 OMIM 621727 Foxe3 forkhead box E3 gene DOID:0080607 anterior segment dysgenesis 2 ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 PMID:11159941|PMID:20140963|PMID:24689660|PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435|PMID:34046667 621727 Foxe3 forkhead box E3 gene DOID:0080685 aortic dissection ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:26854927|PMID:28492532|PMID:29314435 621727 Foxe3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621727 Foxe3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:7240710 20230517 OMIM 621727 Foxe3 forkhead box E3 gene DOID:0110230 cataract 34 multiple types ISO RGD:1316815 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types PMID:17893665|PMID:25741868|PMID:27218149|PMID:28492532|PMID:34046667 621727 Foxe3 forkhead box E3 gene DOID:11367 congenital aphakia ISO RGD:1316815 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism 621727 Foxe3 forkhead box E3 gene DOID:11367 congenital aphakia ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:11159941|PMID:11980846|PMID:16826526|PMID:17893665|PMID:19708017|PMID:20140963|PMID:20361012|PMID:20806047|PMID:21150893|PMID:24033266|PMID:24033328|PMID:24689660|PMID:25148791|PMID:25504734|PMID:25741868|PMID:26854927|PMID:26995144|PMID:27218149|PMID:28492532|PMID:29136273|PMID:29314435|PMID:29878917|PMID:32499604|PMID:32976546|PMID:34046667|PMID:3550563 621727 Foxe3 forkhead box E3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26854927|PMID:28492532|PMID:29314435 621727 Foxe3 forkhead box E3 gene DOID:630 genetic disease ISO RGD:1316815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29136273|PMID:34046667 621727 Foxe3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 621727 Foxe3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:7240710 20230517 OMIM 621727 Foxe3 forkhead box E3 gene DOID:9005838 Familial Thoracic Aortic Aneurysm 11 ISO RGD:1316815 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to PMID:25741868|PMID:26854927|PMID:28492532 621727 Foxe3 forkhead box E3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1316815 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:26854927|PMID:28492532|PMID:29314435 621727 Foxe3 forkhead box E3 gene DOID:9008804 Aphakia ISO RGD:1316815 D RGD:1598956|PMID:16826526 20070108 RGD DNA:nonsense mutation:cds:p.C240X (human) 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050685 small cell carcinoma ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24658001|PMID:24658002|PMID:24658004|PMID:26343384 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050902 medulloblastoma ISO RGD:1348890 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features PMID:17576681|PMID:18414213|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:27701467|PMID:28166811|PMID:28492532|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29758562|PMID:33680622 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:7240710 20140911 OMIM 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy PMID:10601012|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:21280140|PMID:22426308|PMID:23637025|PMID:23929686|PMID:24658001|PMID:24658002|PMID:24728327|PMID:25058500|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25326635|PMID:25741868|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26580448|PMID:26744134|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28973083|PMID:29095814|PMID:29641532|PMID:29758562|PMID:30029678|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31470906|PMID:31530938|PMID:31785789|PMID:32376391|PMID:32686290|PMID:33680622|PMID:35047860|PMID:36474027|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0111254 glutaric acidemia I ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25741868 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer no_association ISO RGD:1348890 D RGD:2302528|PMID:12684665 20081226 RGD human gene: absence of somatic mutations in the samples used 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1059 intellectual disability ISO RGD:1348890 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10907 microcephaly ISO RGD:1348890 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1115 sarcoma ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:12849 autistic disorder ISO RGD:1348890 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autistic behavior 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1324 lung cancer ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:13810 familial hypercholesterolemia ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:1998642|PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1612 breast cancer ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1612 breast cancer ISS RGD:1550820 D RGD:13592920 20180518 MouseDO OMIM:114480 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1657 ventricular septal defect ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1793 pancreatic cancer ISO RGD:1348890 D RGD:8694154|PMID:23355908 20140725 RGD 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1826 epilepsy ISO RGD:1348890 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1882 atrial heart septal defect ISO RGD:1348890 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348890 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348890 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29758562|PMID:33680622 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1969 cerebral palsy ISO RGD:1348890 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348890 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3413 alpha-mannosidosis ISO RGD:1348890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348890 D RGD:2302526|PMID:15287030 20081226 RGD 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3948 adrenocortical carcinoma ISO RGD:1348890 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:540 strabismus ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1348890 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:630 genetic disease ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601012|PMID:22426308|PMID:23637025|PMID:23929686|PMID:25741868|PMID:27479843|PMID:27866340|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:674 cleft palate ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:22426308|PMID:25741868|PMID:28973083 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:6741 bilateral breast cancer ISO RGD:1348890 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348890 D RGD:127285650|PMID:24556940 20210624 RGD DNA:SNPs: :rs11879293, rs2072382 (human) 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:769 neuroblastoma ISO RGD:1348890 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8541 Sezary's disease ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8584 Burkitt lymphoma ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:7240710 20130221 OMIM 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:19621450|PMID:20137775|PMID:21280140|PMID:21566516|PMID:22424359|PMID:22426308|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25640679|PMID:25741868|PMID:25918285|PMID:26230154|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28973083|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31530938|PMID:31785789|PMID:32376391|PMID:32686290|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348890 D RGD:2302527|PMID:17075831 20081226 RGD 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24658001|PMID:24658002|PMID:24658004|PMID:26343384 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9586349|PMID:23702776 20140929 RGD associated with Hypertension;protein:increased expression:heart left ventricle 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348890 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9586347|PMID:23853776 20140929 RGD 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27866340|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:30973214|PMID:31097095|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:31097095|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:29446248|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31954538|PMID:32575483|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1348890 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008797 Facial Asymmetry ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868 621728 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9970 obesity ISO RGD:1348890 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:734039 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:630 genetic disease ISO RGD:734039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28062395|PMID:28492532|PMID:29700810 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9001510 Funnel Chest ISO RGD:734039 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734039 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:734039 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited bone marrow failure syndrome PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:7240710 20190315 OMIM 621729 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883|PMID:29700810 621730 Spdya speedy/RINGO cell cycle regulator family member A gene DOID:630 genetic disease ISO RGD:1352707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:0080600 COVID-19 ISO RGD:1346554 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:1240 leukemia ISO RGD:1346554 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17379067 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:14330 Parkinson's disease ISO RGD:1346554 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17005863 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:403 mouth disease ISO RGD:1346554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:630 genetic disease ISO RGD:1346554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 621731 Ddit4 DNA-damage-inducible transcript 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1346554 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17005863 621732 Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 gene DOID:10283 prostate cancer ISO RGD:732733 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621732 Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 gene DOID:12098 trigeminal neuralgia ISS RGD:737444 D RGD:13592920 20210304 MouseDO OMIM:190400 621732 Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 gene DOID:630 genetic disease ISO RGD:732733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0050700 cardiomyopathy ISO RGD:734286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734286 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:734286 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532|PMID:9570948 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:734286 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:9570948 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:7240710 20190315 OMIM 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:26008862|PMID:28492532|PMID:30369941|PMID:9570948 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:1059 intellectual disability ISO RGD:734286 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:734286 D RGD:2302386|PMID:9570948 20081215 RGD DNA:polymorphism: :p.A29V 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:3312 bipolar disorder ISO RGD:734286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:5419 schizophrenia ISO RGD:734286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:543 dystonia ISO RGD:734286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:630 genetic disease ISO RGD:734286 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:734286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 621733 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:734286 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Parkinson disease, mitochondrial PMID:25741868|PMID:28492532|PMID:9570948 621734 Ncdn neurochondrin gene DOID:0050753 cerebellar ataxia ISO RGD:734133 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33711248 621734 Ncdn neurochondrin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734133 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621734 Ncdn neurochondrin gene DOID:1059 intellectual disability ISO RGD:734133 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33711248 621734 Ncdn neurochondrin gene DOID:1826 epilepsy ISO RGD:734133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33711248 621734 Ncdn neurochondrin gene DOID:630 genetic disease ISO RGD:734133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621734 Ncdn neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:7240710 20220216 OMIM 621734 Ncdn neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733632 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:733632 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:12849 autistic disorder ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:1932 Angelman syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:25741868|PMID:26633545 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:5419 schizophrenia ISO RGD:733632 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:630 genetic disease ISO RGD:733632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:9000998 Brain Injuries ISO RGD:733632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733632 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:733632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 621735 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:733632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 621736 Slc15a1 solute carrier family 15 member 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:730868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 621736 Slc15a1 solute carrier family 15 member 1 gene DOID:4621 holoprosencephaly ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 621736 Slc15a1 solute carrier family 15 member 1 gene DOID:630 genetic disease ISO RGD:730868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621736 Slc15a1 solute carrier family 15 member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:730868 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:0050580 hereditary lymphedema ISS RGD:733489 D RGD:13592920 20180518 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:7240710 20180912 OMIM 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:0070212 hereditary lymphedema I ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:733488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:1475 lymphangioma ISO RGD:733488 D RGD:8552338|PMID:17584927 20140421 RGD protein:increased expression:;lymphatic endothelial cell: 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:1520 colon carcinoma ISO RGD:733488 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11807987|PMID:25741868|PMID:28492532 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:733488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:733488 D RGD:151665104|PMID:32626543 20220310 RGD 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:418 systemic scleroderma ISO RGD:733488 D RGD:8552335|PMID:21865112 20140421 RGD protein:increased expression:skin: 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:4977 lymphedema ISO RGD:733488 D RGD:11554173 20180918 CTD CTD Direct Evidence: marker/mechanism 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:733488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19002718|PMID:24167460|PMID:25741868|PMID:28492532 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:6419 tetralogy of Fallot ISO RGD:733488 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28991257 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:7240710 20200226 OMIM 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 PMID:23074044|PMID:24033266|PMID:25741868|PMID:28991257|PMID:30232381|PMID:30582441 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:7240710 20130731 OMIM 621737 Flt4 Fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:11807987|PMID:25741868|PMID:28492532 621738 Khdrbs2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:1909 melanoma ISO RGD:1349535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 621738 Khdrbs2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:630 genetic disease ISO RGD:1349535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621739 Foxi2 forkhead box I2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602262 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 621739 Foxi2 forkhead box I2 gene DOID:630 genetic disease ISO RGD:1602262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621740 Grp gastrin releasing peptide gene DOID:0060842 isolated microphthalmia 3 ISO RGD:737598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 621740 Grp gastrin releasing peptide gene DOID:0111988 immunodeficiency 12 ISO RGD:737598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 621740 Grp gastrin releasing peptide gene DOID:10914 amnestic disorder ISO RGD:737598 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11564462 621740 Grp gastrin releasing peptide gene DOID:630 genetic disease ISO RGD:737598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621740 Grp gastrin releasing peptide gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 621740 Grp gastrin releasing peptide gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 621740 Grp gastrin releasing peptide gene DOID:9006202 Pruritus ISO RGD:737598 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 621741 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:1059 intellectual disability ISO RGD:734114 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621741 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:3247 rhabdomyosarcoma ISO RGD:734114 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 621741 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734114 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621741 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:630 genetic disease ISO RGD:734114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621741 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:9006205 Animal Disease Models ISO RGD:734114 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621742 Cul5 cullin 5 gene DOID:1059 intellectual disability ISO RGD:733947 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621742 Cul5 cullin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:733947 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621742 Cul5 cullin 5 gene DOID:630 genetic disease ISO RGD:733947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621742 Cul5 cullin 5 gene DOID:9000998 Brain Injuries IEP D RGD:2301432|PMID:17010517 20081014 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus 621742 Cul5 cullin 5 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2301433|PMID:12635525 20081014 RGD mRNA:altered expression:brain 621742 Cul5 cullin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733947 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621742 Cul5 cullin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:733947 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20949323 621743 Ddx52 DExD-box helicase 52 gene DOID:0060041 autism spectrum disorder ISO RGD:1349454 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 621743 Ddx52 DExD-box helicase 52 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1349454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 621743 Ddx52 DExD-box helicase 52 gene DOID:12849 autistic disorder ISO RGD:1349454 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621743 Ddx52 DExD-box helicase 52 gene DOID:5419 schizophrenia ISO RGD:1349454 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621743 Ddx52 DExD-box helicase 52 gene DOID:630 genetic disease ISO RGD:1349454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621743 Ddx52 DExD-box helicase 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349454 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621743 Ddx52 DExD-box helicase 52 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1349454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 621744 Ddx20 DEAD-box helicase 20 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320818 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 621744 Ddx20 DEAD-box helicase 20 gene DOID:630 genetic disease ISO RGD:1320818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621745 Septin3 septin 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621745 Septin3 septin 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736597 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 621745 Septin3 septin 3 gene DOID:1059 intellectual disability ISO RGD:736597 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621745 Septin3 septin 3 gene DOID:630 genetic disease ISO RGD:736597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621746 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:2717 Bloom syndrome ISO RGD:1349515 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621746 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:630 genetic disease ISO RGD:1349515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621746 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621746 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:9256 colorectal cancer ISO RGD:1349515 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621747 Gsr glutathione-disulfide reductase gene DOID:0050859 hemorrhagic cystitis IEP D RGD:7257548|PMID:19107871 20130823 RGD protein:increased activity:urinary bladder: 621747 Gsr glutathione-disulfide reductase gene DOID:0080108 myoglobinuria IEP D RGD:7257577|PMID:15452363 20130826 RGD protein:decreased activity:kidney: 621747 Gsr glutathione-disulfide reductase gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:10401873|PMID:24622831 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:0080855 Parkinsonism ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22721943 621747 Gsr glutathione-disulfide reductase gene DOID:0080855 Parkinsonism treatment IEP D RGD:5128840|PMID:20951685 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:0111363 Heinz body anemia treatment ISO RGD:732221 D RGD:11059501|PMID:20692194 20160414 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:1037 lymphoid leukemia ISO RGD:732221 D RGD:11059504|PMID:8569275 20160414 RGD protein:increased activity:erythrocyte: 621747 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:10401827|PMID:17721818 20151007 RGD protein:decreased expression:blood 621747 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:10401847|PMID:10096042 20151008 RGD mRNA:increased expression:hippocampus 621747 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10401849|PMID:19374888 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:732222 D RGD:10401857|PMID:21376020 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:10763 hypertension ISO RGD:732221 D RGD:1600704|PMID:17198913 20070323 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:10923 sickle cell anemia ISO RGD:732222 D RGD:11059503|PMID:14717789 20160414 RGD protein:increased activity:erythrocyte: 621747 Gsr glutathione-disulfide reductase gene DOID:11476 osteoporosis ISO RGD:732221 D RGD:10401828|PMID:19464221 20151007 RGD protein:decreased expression:blood 621747 Gsr glutathione-disulfide reductase gene DOID:11713 diabetic angiopathy ISO RGD:732221 D RGD:1600708|PMID:16338763 20070323 RGD cardiovascular complications in type 2 diabetics 621747 Gsr glutathione-disulfide reductase gene DOID:11758 iron deficiency anemia ISO RGD:732221 D RGD:11059505|PMID:25097522 20160414 RGD protein:increased activity:plasma: 621747 Gsr glutathione-disulfide reductase gene DOID:12241 beta thalassemia ISO RGD:732221 D RGD:11052141|PMID:20126808 20160414 RGD protein:decreased activity:erythrocyte: 621747 Gsr glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis IEP D RGD:7257573|PMID:12885594 20130826 RGD protein:decreased activity:renal cortex: 621747 Gsr glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:732222 D RGD:7257555|PMID:17078987 20130823 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:12858 Huntington's disease treatment IEP D RGD:10401927|PMID:11490092 20151012 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:1289 neurodegenerative disease ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 621747 Gsr glutathione-disulfide reductase gene DOID:1307 dementia ISO RGD:732221 D RGD:10401864|PMID:19242659 20151008 RGD associated with Uremia 621747 Gsr glutathione-disulfide reductase gene DOID:13328 diabetic cataract ISO RGD:732221 D RGD:10401829|PMID:12518238 20151012 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:224 transient cerebral ischemia treatment IDA D RGD:10401855|PMID:15525350 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:2355 anemia ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:5984971 621747 Gsr glutathione-disulfide reductase gene DOID:251 alcohol-induced mental disorder treatment IEP D RGD:10401897|PMID:24972622 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:2773 contact dermatitis ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 621747 Gsr glutathione-disulfide reductase gene DOID:3021 acute kidney failure IEP D RGD:7257559|PMID:1870354 20130823 RGD glycerol-induced 621747 Gsr glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:732222 D RGD:7257585|PMID:22286819 20130826 RGD protein:decreased activity:kidney: 621747 Gsr glutathione-disulfide reductase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16681429 621747 Gsr glutathione-disulfide reductase gene DOID:3393 coronary artery disease ISO RGD:732221 D RGD:1600708|PMID:16338763 20070323 RGD cardiovascular complications in type 2 diabetics 621747 Gsr glutathione-disulfide reductase gene DOID:4448 macular degeneration ISO RGD:732221 D RGD:10401825|PMID:7803358 20151007 RGD protein:decreased expression:blood 621747 Gsr glutathione-disulfide reductase gene DOID:4450 renal cell carcinoma ISO RGD:732221 D RGD:7257550|PMID:18312938 20130823 RGD protein:decreased expression:kidney: 621747 Gsr glutathione-disulfide reductase gene DOID:583 hemolytic anemia ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:13931269 621747 Gsr glutathione-disulfide reductase gene DOID:5844 myocardial infarction treatment IEP D RGD:10401898|PMID:25119867 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:585 nephrolithiasis IEP D RGD:7257558|PMID:16670437 20130823 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:589 congenital hemolytic anemia ISO RGD:732221 D RGD:1600697|PMID:947404 20070323 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:630 genetic disease ISO RGD:732221 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621747 Gsr glutathione-disulfide reductase gene DOID:750 peptic ulcer disease treatment IEP D RGD:10401900|PMID:24480520 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:7257547|PMID:20181004 20130823 RGD protein:increased activity:blood: 621747 Gsr glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:7257560|PMID:6463365 20130823 RGD protein:increased activity:lymphocyte: 621747 Gsr glutathione-disulfide reductase gene DOID:7998 hyperthyroidism ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 621747 Gsr glutathione-disulfide reductase gene DOID:7998 hyperthyroidism treatment IEP D RGD:10401891|PMID:25242845 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:83 cataract ISO RGD:732221 D RGD:1600697|PMID:947404 20070323 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:83 cataract treatment IDA D RGD:10401885|PMID:24530554 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:8997 polycythemia vera ISO RGD:732221 D RGD:11059504|PMID:8569275 20160414 RGD protein:increased activity:erythrocyte: 621747 Gsr glutathione-disulfide reductase gene DOID:9000197 Edema ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 621747 Gsr glutathione-disulfide reductase gene DOID:9000310 Lung Injury treatment IEP D RGD:10401875|PMID:24479952 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9000808 Hypercholesterolemia treatment IDA D RGD:10401896|PMID:24120393 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9000808 Hypercholesterolemia treatment IEP D RGD:10401874|PMID:24770475 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9001191 Cadmium Poisoning treatment IEP D RGD:10401881|PMID:24200859 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732221 D RGD:7257582|PMID:23626958 20130826 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney 621747 Gsr glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10401899|PMID:24947049 20151009 RGD associated with Diabetes Mellitus, Experimental 621747 Gsr glutathione-disulfide reductase gene DOID:9002331 Knee Osteoarthritis ISO RGD:732221 D RGD:10401830|PMID:16289733 20151007 RGD protein:increased expression:synovial fluid 621747 Gsr glutathione-disulfide reductase gene DOID:9002644 Premature Aging ISO RGD:732222 D RGD:10401826|PMID:16542809 20151007 RGD protein:decreased expression:cerebral cortex 621747 Gsr glutathione-disulfide reductase gene DOID:9002644 Premature Aging treatment ISO RGD:732222 D RGD:10401863|PMID:21903878 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:732221 D RGD:10401853|PMID:18320305 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9004009 Reperfusion Injury treatment IEP D RGD:10401882|PMID:24904723 20151009 RGD associated with Diabetes Mellitus, Experimental 621747 Gsr glutathione-disulfide reductase gene DOID:9004610 Acute Lung Injury IEP D RGD:7257562|PMID:7896613 20130823 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9004989 Protein Deficiency ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 621747 Gsr glutathione-disulfide reductase gene DOID:9005292 Organophosphate Poisoning treatment IEP D RGD:10401876|PMID:24188896 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9005452 Ureteral Calculi ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 621747 Gsr glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7257587|PMID:20187988 20130826 RGD protein:decreased activity:plasma: 621747 Gsr glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 621747 Gsr glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:10401889|PMID:25050809 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9005930 Endotoxemia treatment IEP D RGD:10401928|PMID:25469663 20151012 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:10401866|PMID:24630969 20151008 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9006411 Testicular Injury treatment IEP D RGD:10401887|PMID:25446862 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:7240710 20191211 OMIM 621747 Gsr glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency PMID:25741868|PMID:28492532 621747 Gsr glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7257532|PMID:23554813 20130822 RGD mRNA, protein:increased expression:liver 621747 Gsr glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732221 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:28069987 621747 Gsr glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:10401878|PMID:24154663 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:10401892|PMID:24769323 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9007964 Arsenic Poisoning IEP D RGD:10401880|PMID:25209654 20151009 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9007980 Sleep Deprivation IEP D RGD:11059509|PMID:21621560 20160414 RGD protein:increased expression:hippocampus, cortex, amygdala: 621747 Gsr glutathione-disulfide reductase gene DOID:9008691 Liver Injury IEP D RGD:10401865|PMID:22120977 20151008 RGD protein:decreased expression:liver 621747 Gsr glutathione-disulfide reductase gene DOID:9119 acute myeloid leukemia ISO RGD:732221 D RGD:11059506|PMID:24191316 20160414 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9351 diabetes mellitus ISO RGD:732221 D RGD:7257584|PMID:22540111 20130826 RGD protein:decreased activity:blood: 621747 Gsr glutathione-disulfide reductase gene DOID:9669 senile cataract ISO RGD:732221 D RGD:10401829|PMID:12518238 20151007 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732221 D RGD:11059506|PMID:24191316 20160414 RGD 621747 Gsr glutathione-disulfide reductase gene DOID:9993 hypoglycemia ISO RGD:732221 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1346484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:1909 melanoma ISO RGD:1346484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:2746 glycogen storage disease V ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:3070 high grade glioma ISO RGD:1346484 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 621748 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1346484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621749 Unc50 unc-50 inner nuclear membrane RNA binding protein gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343022 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 621749 Unc50 unc-50 inner nuclear membrane RNA binding protein gene DOID:630 genetic disease ISO RGD:1343022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621750 Drp2 dystrophin related protein 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X PMID:23999528|PMID:25741868|PMID:26227883|PMID:29473052|PMID:31217940 621750 Drp2 dystrophin related protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732671 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621750 Drp2 dystrophin related protein 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 621750 Drp2 dystrophin related protein 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 621750 Drp2 dystrophin related protein 2 gene DOID:12849 autistic disorder ISO RGD:732671 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621750 Drp2 dystrophin related protein 2 gene DOID:14499 Fabry disease ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 621750 Drp2 dystrophin related protein 2 gene DOID:630 genetic disease ISO RGD:732671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621750 Drp2 dystrophin related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 621750 Drp2 dystrophin related protein 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 621751 Fbxo2 F-box protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 621751 Fbxo2 F-box protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732900 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621751 Fbxo2 F-box protein 2 gene DOID:630 genetic disease ISO RGD:732900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621751 Fbxo2 F-box protein 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732900 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:127 leiomyoma disease_progression ISO RGD:732137 D RGD:2314924|PMID:7446622 20091208 RGD associated with Uterine Neoplasms;protein:increased expression:serum 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:1612 breast cancer ISO RGD:732137 D RGD:2314923|PMID:10508127 20091208 RGD protein:increased expression:breast 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:4450 renal cell carcinoma ISO RGD:732137 D RGD:2314919|PMID:17692401 20091208 RGD 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:8488 polyhydramnios ISO RGD:732137 D RGD:2311543|PMID:1789335 20090723 RGD associated with Diabetes Mellitus 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732137 D RGD:2311543|PMID:1789335 20090723 RGD 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732137 D RGD:2314920|PMID:15907336 20091208 RGD protein:increased expression:ovary 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:732137 D RGD:2314924|PMID:7446622 20091208 RGD 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732137 D RGD:2314922|PMID:15218296 20091208 RGD associated with Endometrial Neoplasms 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732137 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1582109|PMID:16619500 20091208 RGD protein:increased expression:serum 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9007715 Endometrial Neoplasms ISO RGD:732137 D RGD:2314921|PMID:15491750 20091208 RGD 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9008023 Memory Disorders ISO RGD:732137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11730987 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2306436|PMID:16967782 20090723 RGD 621752 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732137 D RGD:2311542|PMID:11701721 20090723 RGD 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:32031333 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:630 genetic disease ISO RGD:1351337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351337 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDC42BPB-related neurodevelopmental syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32031333 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:7240710 20220615 OMIM 621753 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Chilton-Okur-Chung neurodevelopmental syndrome PMID:25741868|PMID:32031333 621754 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621754 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:12849 autistic disorder ISO RGD:734288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621754 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:630 genetic disease ISO RGD:734288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621754 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734288 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621754 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:9005172 Lung Neoplasms ISO RGD:734288 D RGD:11554173 20171010 CTD CTD Direct Evidence: therapeutic PMID:22028818 621754 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621755 Unc5a unc-5 netrin receptor A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 621755 Unc5a unc-5 netrin receptor A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 621755 Unc5a unc-5 netrin receptor A gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 621755 Unc5a unc-5 netrin receptor A gene DOID:630 genetic disease ISO RGD:1344019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621755 Unc5a unc-5 netrin receptor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344019 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 621755 Unc5a unc-5 netrin receptor A gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 621756 Unc5b unc-5 netrin receptor B gene DOID:0060041 autism spectrum disorder ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621756 Unc5b unc-5 netrin receptor B gene DOID:630 genetic disease ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 621756 Unc5b unc-5 netrin receptor B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736493 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 621757 Casp4 caspase 4 gene DOID:0080600 COVID-19 ISO RGD:1343162 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621757 Casp4 caspase 4 gene DOID:1059 intellectual disability ISO RGD:1343162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621757 Casp4 caspase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1343162 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621757 Casp4 caspase 4 gene DOID:5419 schizophrenia ISO RGD:1343162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 621757 Casp4 caspase 4 gene DOID:630 genetic disease ISO RGD:1343162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621757 Casp4 caspase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621757 Casp4 caspase 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343162 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621758 Casp12 caspase 12 gene DOID:1059 intellectual disability ISO RGD:1348077 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621758 Casp12 caspase 12 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13782165|PMID:29126976 20180824 RGD 621758 Casp12 caspase 12 gene DOID:114 heart disease IEP D RGD:13782301|PMID:28825094 20180904 RGD associated with Multiple Trauma 621758 Casp12 caspase 12 gene DOID:11446 sciatic neuropathy IDA D RGD:13782273|PMID:29659443 20180831 RGD mRNA, protein:increased expression:dorsal root ganglion 621758 Casp12 caspase 12 gene DOID:12704 ataxia telangiectasia ISO RGD:1348077 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621758 Casp12 caspase 12 gene DOID:2055 post-traumatic stress disorder IEP D RGD:13782181|PMID:25331812 20180827 RGD 621758 Casp12 caspase 12 gene DOID:2316 brain ischemia IEP D RGD:1299333|PMID:12598725 20090720 RGD mRNA, protein:increased expresssion:brain 621758 Casp12 caspase 12 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13782182|PMID:24694971 20180827 RGD 621758 Casp12 caspase 12 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:2311466|PMID:16847061 20090717 RGD protein:increased activity:spinal cord 621758 Casp12 caspase 12 gene DOID:4989 pancreatitis IEP D RGD:2311467|PMID:16574987 20090717 RGD 621758 Casp12 caspase 12 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782175|PMID:25707520 20180827 RGD 621758 Casp12 caspase 12 gene DOID:6000 congestive heart failure IEP D RGD:2311453|PMID:18787714 20090717 RGD associated with Hypertension 621758 Casp12 caspase 12 gene DOID:6000 congestive heart failure treatment IEP D RGD:13782169|PMID:27346262 20180827 RGD associated with myocardial infarction 621758 Casp12 caspase 12 gene DOID:630 genetic disease ISO RGD:1348077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621758 Casp12 caspase 12 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2311450|PMID:19215662 20090716 RGD associated with Diabetes Mellitus, Experimental 621758 Casp12 caspase 12 gene DOID:9000039 Spinal Cord Injuries treatment IDA D RGD:11560925|PMID:26884858 20180827 RGD 621758 Casp12 caspase 12 gene DOID:9000998 Brain Injuries severity IEP D RGD:2311485|PMID:14675152 20090720 RGD mRNA, protein:increased expression, increased activity:cerebral cortex, hippocampus, neuron, astrocyte 621758 Casp12 caspase 12 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2311470|PMID:16092975 20090717 RGD protein:increased expression:liver 621758 Casp12 caspase 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621758 Casp12 caspase 12 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:13782166|PMID:29428101 20180824 RGD 621758 Casp12 caspase 12 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2311449|PMID:19301230 20090716 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney 621758 Casp12 caspase 12 gene DOID:9002676 Cerebral Hemorrhage treatment IEP D RGD:13782167|PMID:28544790 20180824 RGD 621758 Casp12 caspase 12 gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:2311455|PMID:18603371 20090717 RGD protein:increased activity:cerebral cortex, hippocampus 621758 Casp12 caspase 12 gene DOID:9004009 Reperfusion Injury IEP D RGD:2311461|PMID:18273070 20090717 RGD 621758 Casp12 caspase 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348077 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 621758 Casp12 caspase 12 gene DOID:9004590 Acute Liver Failure treatment IEP D RGD:13782174|PMID:26238033 20180827 RGD 621758 Casp12 caspase 12 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:34901874|PMID:30465396 20200707 RGD associated with Crush Injuries 621758 Casp12 caspase 12 gene DOID:9004953 Diabetic Cystopathy IEP D RGD:13782173|PMID:26370333 20180827 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle 621758 Casp12 caspase 12 gene DOID:9005666 Contrast-Induced Nephropathy treatment IEP D RGD:13782262|PMID:27781957 20180829 RGD 621758 Casp12 caspase 12 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:13782171|PMID:26869403 20180827 RGD associated with Experimental Diabetes Mellitus 621758 Casp12 caspase 12 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2311458|PMID:19406177 20090717 RGD protein:increased activity:myocardium 621758 Casp12 caspase 12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 621758 Casp12 caspase 12 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13782178|PMID:25547710 20180827 RGD 621758 Casp12 caspase 12 gene DOID:9007956 Febrile Seizures IEP D RGD:2311454|PMID:18675883 20090717 RGD 621758 Casp12 caspase 12 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD mRNA,protein:increased expression:chondrocyte 621758 Casp12 caspase 12 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10053698|PMID:23032698 20150720 RGD 621758 Casp12 caspase 12 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:2311451|PMID:15855338 20090716 RGD protein:increased expression:hippocampus 621758 Casp12 caspase 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348077 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 621759 Vwf von Willebrand factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347936 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 621759 Vwf von Willebrand factor gene DOID:0050486 exanthem ISO RGD:1347936 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 621759 Vwf von Willebrand factor gene DOID:0050989 episodic ataxia type 1 ISO RGD:1347936 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 621759 Vwf von Willebrand factor gene DOID:0060041 autism spectrum disorder ISO RGD:1347936 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621759 Vwf von Willebrand factor gene DOID:0060224 atrial fibrillation ISO RGD:1347936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 621759 Vwf von Willebrand factor gene DOID:0060224 atrial fibrillation treatment ISO RGD:1347936 D RGD:7205648|PMID:21497043 20130109 RGD 621759 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:10766468|PMID:15226188 20180124 RGD protein:decreased expression:plasma 621759 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:11079205|PMID:8839833 20160517 RGD DNA:mutation:exon:p.C386R(human) 621759 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:7240710 20130221 OMIM 621759 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to PMID:10669167|PMID:10845912|PMID:10959712|PMID:11057846|PMID:11159522|PMID:11325649|PMID:11686103|PMID:11698279|PMID:11756169|PMID:11776047|PMID:12043692|PMID:12176890|PMID:12211196|PMID:12551832|PMID:12588349|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1415226|PMID:14525793|PMID:14613933|PMID:15461624|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:19060241|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19624459|PMID:19687512|PMID:19943880|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20838735|PMID:20851871|PMID:20981092|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22431572|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24337418|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:24954083|PMID:25103891|PMID:25185554|PMID:25564403|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25741868|PMID:25741869|PMID:25753785|PMID:25779970|PMID:25780857|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26270243|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27785872|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29220693|PMID:29388750|PMID:29423401|PMID:29590070|PMID:29742318|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30361419|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31605304|PMID:31887760|PMID:31968368|PMID:32108991|PMID:3257148|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34758185|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35505650|PMID:6696046|PMID:7620154|PMID:7734373|PMID:8088787|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8456430|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8839833|PMID:8865544|PMID:9198195|PMID:9253800|PMID:9473222|PMID:9684781|PMID:9723578 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:10766469|PMID:16409463 20180124 RGD protein:decreased expression:plasma 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:11079200|PMID:26019279 20160517 RGD DNA:missense mutation:cds:p.M1304R(human) 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:11079202|PMID:8839848 20160517 RGD DNA:deletion:cds: 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:11079206|PMID:10959688 20160517 RGD DNA:deletion:cds:del K 1405-1408(human) 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:7240710 20130221 OMIM 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:10845912|PMID:10959712|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11698279|PMID:11776047|PMID:11843298|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12393698|PMID:12406074|PMID:12588349|PMID:12588351|PMID:12649144|PMID:12737944|PMID:1324533|PMID:1380739|PMID:1409710|PMID:1419803|PMID:1419804|PMID:14525793|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17090649|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17296575|PMID:1729889|PMID:17408416|PMID:17598021|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18647226|PMID:18712522|PMID:18725999|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19431182|PMID:19453940|PMID:19506354|PMID:19506361|PMID:19506362|PMID:19566550|PMID:19624459|PMID:19630771|PMID:19687512|PMID:19740526|PMID:19943880|PMID:19951969|PMID:2010538|PMID:2011604|PMID:20118404|PMID:2018834|PMID:20200350|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20335223|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20713003|PMID:20838735|PMID:20851871|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23322777|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23819767|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24337418|PMID:24351655|PMID:24385719|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:2557900|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25728415|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26270243|PMID:26345337|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29220693|PMID:29388750|PMID:29590070|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:3132965|PMID:31349985|PMID:31423628|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34758185|PMID:34828413|PMID:3487353|PMID:3488775|PMID:6426499|PMID:6696046|PMID:6767976|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7789955|PMID:7906590|PMID:8088787|PMID:8134377|PMID:8435341|PMID:8456431|PMID:8456432|PMID:8486782 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:8500791|PMID:8562925|PMID:8621553|PMID:8622978|PMID:8630394|PMID:8839833|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9108394|PMID:9198195|PMID:9308766|PMID:9569179|PMID:9684781|PMID:9723578 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1553644 D RGD:11079201|PMID:20200350 20160517 RGD p. R1306Q,V1316M(mouse) 621759 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 treatment ISO RGD:1347936 D RGD:11079203|PMID:20589313 20160517 RGD 621759 Vwf von Willebrand factor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 621759 Vwf von Willebrand factor gene DOID:0060903 thrombosis ISO RGD:1347936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3875694|PMID:22352330 621759 Vwf von Willebrand factor gene DOID:0060903 thrombosis ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombus PMID:12649144|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:19506354|PMID:20409624|PMID:20682599|PMID:21346256|PMID:22197721|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27380589|PMID:27596108|PMID:28091443|PMID:28971901|PMID:30722078|PMID:30817071|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413 621759 Vwf von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:11079204|PMID:7831648 20160517 RGD DNA:deletions:exons: 621759 Vwf von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:7240710 20130221 OMIM 621759 Vwf von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:10959712|PMID:11057846|PMID:12588349|PMID:1301136|PMID:1302613|PMID:1415226|PMID:16115133|PMID:16321553|PMID:16643449|PMID:16894469|PMID:16985174|PMID:17080221|PMID:17190853|PMID:17296575|PMID:18315546|PMID:18344424|PMID:18485763|PMID:18805962|PMID:18841300|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19506361|PMID:19566550|PMID:19624459|PMID:20147343|PMID:20231421|PMID:20492463|PMID:20851871|PMID:21251206|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21534937|PMID:21711445|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22431572|PMID:22871923|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23340442|PMID:23354996|PMID:23407766|PMID:23636243|PMID:23647798|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24033266|PMID:24675615|PMID:24712919|PMID:24954083|PMID:25741868|PMID:25779970|PMID:26270243|PMID:26467025|PMID:26986123|PMID:26988807|PMID:27007659|PMID:28492532|PMID:28971901|PMID:29220693|PMID:29423401|PMID:29590070|PMID:30488424|PMID:30690834|PMID:31026269|PMID:31064749|PMID:32581362|PMID:32722784|PMID:33550700|PMID:33556167|PMID:34298581|PMID:34355501|PMID:34758185|PMID:35505650|PMID:7989040|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8562925|PMID:9569178 621759 Vwf von Willebrand factor gene DOID:10159 osteonecrosis ISO RGD:1347936 D RGD:30309948|PMID:16547717 20200624 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) 621759 Vwf von Willebrand factor gene DOID:10763 hypertension ISO RGD:1347936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201|PMID:22352330 621759 Vwf von Willebrand factor gene DOID:10763 hypertension treatment IEP D RGD:1601646|PMID:14737039 20180627 RGD associated with Experimental Diabetes Mellitus 621759 Vwf von Willebrand factor gene DOID:10941 intracranial aneurysm ISO RGD:1347936 D RGD:155882593|PMID:32602008 20230201 RGD protein:increased expression:serum, artery 621759 Vwf von Willebrand factor gene DOID:12134 factor VIII deficiency ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:25741868 621759 Vwf von Willebrand factor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1553644 D RGD:11073776|PMID:25955153 20160516 RGD 621759 Vwf von Willebrand factor gene DOID:1247 blood coagulation disease ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:11686103|PMID:12176890|PMID:12211196|PMID:1419803|PMID:15041272|PMID:15461624|PMID:1557393|PMID:15670054|PMID:1581215|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16953269|PMID:16985174|PMID:17190853|PMID:1832934|PMID:18712522|PMID:1906877|PMID:1918030|PMID:19506353|PMID:19740526|PMID:2010538|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:21371195|PMID:21534937|PMID:22077376|PMID:22197721|PMID:22507569|PMID:22875612|PMID:23426949|PMID:23636243|PMID:23648131|PMID:23819767|PMID:24029428|PMID:24033266|PMID:24928861|PMID:25662333|PMID:25741868|PMID:26207643|PMID:26467025|PMID:26764160|PMID:27029718|PMID:27320760|PMID:27913545|PMID:28581694|PMID:28916584|PMID:28971901|PMID:29590070|PMID:29924855|PMID:30046704|PMID:30565388|PMID:30690834|PMID:30722078|PMID:31064749|PMID:31249928|PMID:31349985|PMID:33556167|PMID:34355501|PMID:6773982|PMID:8456432|PMID:8500791|PMID:8630394|PMID:8865544|PMID:9684781|PMID:9723578 621759 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:1331525|PMID:15118671 19990101 GAD 621759 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: von Willebrand disorder | ClinVar Annotator: match by term: von Willebrand's disease PMID:10669167|PMID:10845912|PMID:10959712|PMID:11057846|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11756169|PMID:11776047|PMID:11843298|PMID:12043692|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12551832|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1324533|PMID:1380739|PMID:1415226|PMID:1419803|PMID:14525793|PMID:14613933|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:17408416|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18449422|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19470641|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19630771|PMID:19630772|PMID:19687512|PMID:19740526|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:2018834|PMID:20230424|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20590881|PMID:20682599|PMID:20713003|PMID:20838735|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21393328|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22537243|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23322777|PMID:23335371|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23647798|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23819767|PMID:23834637|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24351655|PMID:24385719|PMID:24482836|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24800796|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:25662333|PMID:25689060|PMID:25690668|PMID:25696906|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26345337|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29388750|PMID:29423401|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30358069|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:3257148|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33618961|PMID:33807613|PMID:34272389|PMID:34355501|PMID:34596727|PMID:34662354|PMID:34708896|PMID:34714369|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35505650|PMID:6696046|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7906590|PMID:8088787|PMID:8134377 621759 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: von Willebrand disorder | ClinVar Annotator: match by term: von Willebrand's disease PMID:8165603|PMID:8367445|PMID:8456430|PMID:8456431|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8621553|PMID:8630394|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9198195|PMID:9253800|PMID:9308766|PMID:9473222|PMID:9684781|PMID:9723578 621759 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease ISS RGD:1553644 D RGD:13592920 20201210 MouseDO 621759 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease treatment ISO RGD:1347936 D RGD:11079196|PMID:26239086 20160516 RGD 621759 Vwf von Willebrand factor gene DOID:1287 cardiovascular system disease ISO RGD:1347936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 621759 Vwf von Willebrand factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347936 D RGD:7207031|PMID:22295953 20130116 RGD 621759 Vwf von Willebrand factor gene DOID:13241 Behcet's disease ISO RGD:1347936 D RGD:1580642|PMID:15849757 19990101 RGD 621759 Vwf von Willebrand factor gene DOID:13809 familial combined hyperlipidemia ISO RGD:1347936 D RGD:13207412|PMID:18417194 20170728 RGD protein:increased expression:plasma: 621759 Vwf von Willebrand factor gene DOID:1588 thrombocytopenia ISO RGD:1347936 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:16985174|PMID:18315556|PMID:19506361|PMID:25741868|PMID:31064749 621759 Vwf von Willebrand factor gene DOID:2213 hemorrhagic disease ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10845912|PMID:11686103|PMID:11776047|PMID:12176890|PMID:12211196|PMID:1301136|PMID:1302613|PMID:15461624|PMID:15670054|PMID:1581215|PMID:16706266|PMID:16953269|PMID:16985174|PMID:17087728|PMID:17190853|PMID:17200787|PMID:17681836|PMID:18230755|PMID:18315556|PMID:1832934|PMID:18384353|PMID:18712522|PMID:18805962|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19566550|PMID:19951969|PMID:2018834|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:2104761|PMID:21371195|PMID:21429375|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22578129|PMID:22875612|PMID:23340442|PMID:23349392|PMID:23426949|PMID:23636243|PMID:23648131|PMID:24029428|PMID:24033266|PMID:24700780|PMID:24928861|PMID:25185554|PMID:25696906|PMID:25741868|PMID:26200876|PMID:26207643|PMID:26467025|PMID:26764160|PMID:26879396|PMID:26986123|PMID:26988807|PMID:27320760|PMID:27443694|PMID:27483487|PMID:28581694|PMID:28971901|PMID:29924855|PMID:30358069|PMID:31064749|PMID:31249928|PMID:31349985|PMID:32935436|PMID:34272389|PMID:34355501|PMID:34662354|PMID:7620154|PMID:7734373|PMID:8165603|PMID:8367445|PMID:8500791|PMID:8865544|PMID:9684781 621759 Vwf von Willebrand factor gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1347936 D RGD:1580643|PMID:14717981 19990101 RGD 621759 Vwf von Willebrand factor gene DOID:2224 essential thrombocythemia ISO RGD:1347936 D RGD:11073823|PMID:25876231 20160517 RGD 621759 Vwf von Willebrand factor gene DOID:224 transient cerebral ischemia treatment IDA D RGD:7207039|PMID:22771326 20130116 RGD 621759 Vwf von Willebrand factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1553644 D RGD:30310231|PMID:23919993 20200624 RGD protein:increased expression:lung (mouse) 621759 Vwf von Willebrand factor gene DOID:3312 bipolar disorder ISO RGD:1347936 D RGD:7207027|PMID:19839997 20130116 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:3407 carotid artery disease ISO RGD:1347936 D RGD:7207026|PMID:20439183 20130116 RGD associated with Kidney Failure, Chronic 621759 Vwf von Willebrand factor gene DOID:3770 pulmonary fibrosis IEP D RGD:11079207|PMID:8811296 20160517 RGD associated with Radiation Injuries;protein:increased expression:lung parenchyma 621759 Vwf von Willebrand factor gene DOID:418 systemic scleroderma severity ISO RGD:1347936 D RGD:7205639|PMID:22596213 20130109 RGD 621759 Vwf von Willebrand factor gene DOID:4193 intracranial thrombosis ISO RGD:1347936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:3111251 621759 Vwf von Willebrand factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347936 D RGD:7207032|PMID:21953673 20130116 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:11079208|PMID:10450036 20160517 RGD protein:increased expression:glomerulus: 621759 Vwf von Willebrand factor gene DOID:5419 schizophrenia ISO RGD:1347936 D RGD:7207027|PMID:19839997 20130116 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:5844 myocardial infarction IEP D RGD:11080745|PMID:19435557 20160519 RGD protein:increased expression:heart: 621759 Vwf von Willebrand factor gene DOID:6000 congestive heart failure ISO RGD:1347936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 621759 Vwf von Willebrand factor gene DOID:630 genetic disease ISO RGD:1347936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12649144|PMID:1324533|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16322474|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:18986390|PMID:19277422|PMID:19506354|PMID:20409624|PMID:20492463|PMID:20682599|PMID:21346256|PMID:22197721|PMID:22372972|PMID:22871923|PMID:23322777|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27214365|PMID:27380589|PMID:27596108|PMID:27766062|PMID:2786201|PMID:28091443|PMID:28971901|PMID:29186156|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413|PMID:8456431 621759 Vwf von Willebrand factor gene DOID:6432 pulmonary hypertension ISO RGD:1347936 D RGD:1580645|PMID:14507115 19990101 RGD 621759 Vwf von Willebrand factor gene DOID:783 end stage renal disease ISO RGD:1347936 D RGD:7205646|PMID:22091998 20130109 RGD protein:increased oxidation:plasma 621759 Vwf von Willebrand factor gene DOID:783 end stage renal disease disease_progression ISO RGD:1347936 D RGD:7205641|PMID:22189209 20130109 RGD 621759 Vwf von Willebrand factor gene DOID:783 end stage renal disease treatment ISO RGD:1347936 D RGD:7205649|PMID:21378155 20130109 RGD 621759 Vwf von Willebrand factor gene DOID:8947 diabetic retinopathy ISO RGD:1347936 D RGD:1580648|PMID:10077454 19990101 RGD 621759 Vwf von Willebrand factor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:13673888|PMID:25771801 20180627 RGD 621759 Vwf von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1553644 D RGD:7207026|PMID:20439183 20130116 RGD 621759 Vwf von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies disease_progression ISO RGD:1347936 D RGD:7205650|PMID:21153061 20130109 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:9000528 Coronary Disease ISO RGD:1347936 D RGD:1580647|PMID:11864703 19990101 RGD 621759 Vwf von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:11079232|PMID:7531171 20160518 RGD protein:increased expression:liver: 621759 Vwf von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347936 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 621759 Vwf von Willebrand factor gene DOID:9001708 Hemorrhagic Shock IEP D RGD:10450768|PMID:15748447 20160121 RGD protein:decreased expression:plasma 621759 Vwf von Willebrand factor gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1347936 D RGD:11079195|PMID:26863353 20160516 RGD 621759 Vwf von Willebrand factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1347936 D RGD:7207031|PMID:22295953 20130116 RGD associated with Glomerulosclerosis, Focal Segmental 621759 Vwf von Willebrand factor gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:1347936 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 PMID:25741868|PMID:26467025 621759 Vwf von Willebrand factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625712|PMID:17546272 20070622 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1347936 D RGD:1580644|PMID:14727254 19990101 RGD 621759 Vwf von Willebrand factor gene DOID:9005930 Endotoxemia IEP D RGD:11079230|PMID:2650559 20160518 RGD protein:increased expression:endothelial cell: 621759 Vwf von Willebrand factor gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11080744|PMID:12684225 20160519 RGD protein:increased expression:serum: 621759 Vwf von Willebrand factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1347936 D RGD:38508895|PMID:23593305 20200819 RGD protein:increased expression:plasma (human) 621759 Vwf von Willebrand factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1347936 D RGD:1625709|PMID:16764036 20070622 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:9007096 Stroke ISO RGD:1347936 D RGD:1331525|PMID:15118671 19990101 GAD 621759 Vwf von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:11079232|PMID:7531171 20160518 RGD protein:increased expression:liver: 621759 Vwf von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347936 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 621759 Vwf von Willebrand factor gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:11079229|PMID:17708840 20160518 RGD protein:increased expression:plasma: 621759 Vwf von Willebrand factor gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1347936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:10669167|PMID:11756169|PMID:12043692|PMID:14613933|PMID:16870550|PMID:16889557|PMID:16925796|PMID:17080221|PMID:18230755|PMID:21346256|PMID:23647798|PMID:25741868|PMID:26467025|PMID:26986123|PMID:31064749|PMID:3257148|PMID:32581362|PMID:34355501|PMID:8456430|PMID:9253800 621759 Vwf von Willebrand factor gene DOID:9007692 Insulin Resistance ISO RGD:1347936 D RGD:1625711|PMID:16631442 20070622 RGD protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:11080742|PMID:10365842 20160519 RGD protein:increased expression:plasma: 621759 Vwf von Willebrand factor gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347936 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 621759 Vwf von Willebrand factor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347936 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 621759 Vwf von Willebrand factor gene DOID:9008752 Aortic Injuries IEP D RGD:11079230|PMID:2650559 20160518 RGD protein:increased expression:endothelial cell: 621759 Vwf von Willebrand factor gene DOID:9008975 Gastrointestinal Hemorrhage IEP D RGD:11080743|PMID:9790822 20160519 RGD protein:increased expression: : 621759 Vwf von Willebrand factor gene DOID:9351 diabetes mellitus treatment ISO RGD:1553644 D RGD:7207029|PMID:19722571 20130116 RGD 621759 Vwf von Willebrand factor gene DOID:9744 type 1 diabetes mellitus IEP D RGD:13673887|PMID:10729383 20180627 RGD 621759 Vwf von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:1625710|PMID:16739871 20070622 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma 621759 Vwf von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:1625711|PMID:16631442 20070622 RGD protein:increased expression:plasma 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:0080600 COVID-19 ISO RGD:1345660 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35835913 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:0080600 COVID-19 ISO RGD:1345660 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: OAS1 polymorphism PMID:16014697|PMID:28492532 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:630 genetic disease ISO RGD:1345660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29455859|PMID:34145065 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:9001488 Human Influenza ISO RGD:1345660 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:9002124 IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA ISO RGD:1345660 D RGD:7240710 20220713 OMIM 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:9002124 IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA ISO RGD:1345660 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia PMID:25741868|PMID:28492532|PMID:29185156|PMID:29455859|PMID:34145065 621760 Oas1a 2'-5' oligoadenylate synthetase 1A gene DOID:934 viral infectious disease ISO RGD:1345660 D RGD:11554173 20171226 CTD CTD Direct Evidence: marker/mechanism PMID:15732009 621762 Ehd3 EH-domain containing 3 gene DOID:630 genetic disease ISO RGD:1346639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621762 Ehd3 EH-domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346639 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621762 Ehd3 EH-domain containing 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1346639 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 621763 Septin5 septin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:30304160 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 621763 Septin5 septin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:30304160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 621763 Septin5 septin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:30304160 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 621763 Septin5 septin 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:30304160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 621763 Septin5 septin 5 gene DOID:1059 intellectual disability ISO RGD:30304160 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621763 Septin5 septin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:30304160 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 621763 Septin5 septin 5 gene DOID:11372 megacolon ISO RGD:30304160 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 621763 Septin5 septin 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:30304160 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 621763 Septin5 septin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:30304160 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 621763 Septin5 septin 5 gene DOID:12849 autistic disorder ISO RGD:30304160 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621763 Septin5 septin 5 gene DOID:1826 epilepsy ISO RGD:30304160 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 621763 Septin5 septin 5 gene DOID:2213 hemorrhagic disease ISO RGD:30304160 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 621763 Septin5 septin 5 gene DOID:5419 schizophrenia ISO RGD:30304160 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621763 Septin5 septin 5 gene DOID:612 primary immunodeficiency disease ISO RGD:30304160 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 621763 Septin5 septin 5 gene DOID:630 genetic disease ISO RGD:30304160 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621763 Septin5 septin 5 gene DOID:9003871 Venous Thrombosis ISO RGD:30304160 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 621763 Septin5 septin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30304160 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621763 Septin5 septin 5 gene DOID:9007661 Dwarfism ISO RGD:30304160 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 621763 Septin5 septin 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:30304160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 621764 Foxj1 forkhead box J1 gene DOID:0050144 Kartagener syndrome ISS RGD:732359 D RGD:13592920 20180518 MouseDO 621764 Foxj1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:7240710 20200101 OMIM 621764 Foxj1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 PMID:25741868|PMID:31630787|PMID:33077954 621764 Foxj1 forkhead box J1 gene DOID:630 genetic disease ISO RGD:732358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621764 Foxj1 forkhead box J1 gene DOID:9562 primary ciliary dyskinesia ISS RGD:732359 D RGD:13592920 20180518 MouseDO 621765 Tnni1 troponin I1, slow skeletal type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 621765 Tnni1 troponin I1, slow skeletal type gene DOID:1540 parathyroid carcinoma ISO RGD:732918 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621765 Tnni1 troponin I1, slow skeletal type gene DOID:630 genetic disease ISO RGD:732918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621765 Tnni1 troponin I1, slow skeletal type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732918 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 621765 Tnni1 troponin I1, slow skeletal type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732918 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621766 Dapk3 death-associated protein kinase 3 gene DOID:13938 amenorrhea ISO RGD:731385 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 621766 Dapk3 death-associated protein kinase 3 gene DOID:630 genetic disease ISO RGD:731385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621767 Agxt2 alanine-glyoxylate aminotransferase 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 621767 Agxt2 alanine-glyoxylate aminotransferase 2 gene DOID:630 genetic disease ISO RGD:1352542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621767 Agxt2 alanine-glyoxylate aminotransferase 2 gene DOID:655 inherited metabolic disorder ISO RGD:1352542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 621767 Agxt2 alanine-glyoxylate aminotransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352542 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621767 Agxt2 alanine-glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:7240710 20200304 OMIM 621767 Agxt2 alanine-glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of PMID:21572414 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:11612 polycystic ovary syndrome IEP D RGD:9999396|PMID:21910062 20150416 RGD protein:increased expression:ovary 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:2234 focal epilepsy ISO RGD:1350976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350976 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:9999419|PMID:18375249 20150417 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:9999390|PMID:14500739 20150416 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:4692 endophthalmitis IEP D RGD:9999421|PMID:18274645 20150417 RGD associated with Staphylococcal Infections;protein:increased expression:cornea, retina, vitreous humor 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:5844 myocardial infarction treatment IEP D RGD:9999400|PMID:23361363 20150416 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:630 genetic disease ISO RGD:1350976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9000656 Penetrating Wounds IEP D RGD:9999424|PMID:22020578 20150417 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:2314952|PMID:19595018 20150420 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9002457 Experimental Arthritis IEP D RGD:9999431|PMID:9744360 20150420 RGD protein:decreased expression:articular cartilage of joint 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:634208|PMID:10449524 20150416 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:9999395|PMID:22436018 20150416 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9004009 Reperfusion Injury ISO RGD:1350976 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:8215636 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9004610 Acute Lung Injury severity IMP D RGD:9999422|PMID:10092827 20150417 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:9999425|PMID:25466948 20150417 RGD associated with Endotoxemia 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9005930 Endotoxemia IEP D RGD:9999425|PMID:25466948 20150417 RGD 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 621768 Slpi secretory leukocyte peptidase inhibitor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350976 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731755 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731755 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:0070297 primary microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:10677299|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:16497572|PMID:17965227|PMID:19390132|PMID:20301322|PMID:20556518|PMID:23293579|PMID:24033266|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731755 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:1059 intellectual disability ISO RGD:731755 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:10907 microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:10602371|PMID:10677299|PMID:10814720|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:15952211|PMID:16044199|PMID:16207203|PMID:16497572|PMID:16983147|PMID:17441222|PMID:17965227|PMID:18006960|PMID:19390132|PMID:20301322|PMID:20556518|PMID:21696385|PMID:23042628|PMID:23293579|PMID:24033266|PMID:25040602|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:12849 autistic disorder ISO RGD:731755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14659996 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:11254748|PMID:12818773|PMID:12906934|PMID:14659996|PMID:15896653|PMID:16446309|PMID:16814115|PMID:17994283|PMID:19365639|PMID:27097157|PMID:29698737 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:1600899|PMID:9683613 20070330 RGD DNA:insertion 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:7240710 20130221 OMIM 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10405455|PMID:10602371|PMID:10677299|PMID:10710236|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11001807|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11453964|PMID:11471166|PMID:11562938|PMID:11745994|PMID:11767235|PMID:11857552|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:15979035|PMID:16044199|PMID:16181459|PMID:16199547|PMID:16207203|PMID:16392899|PMID:16435228|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18006960|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21696385|PMID:21706511|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23790112|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25533962|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26539891|PMID:26887953|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28397838|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:2945519|PMID:29455191|PMID:29907799|PMID:30925529|PMID:31178897|PMID:31395954|PMID:31840946|PMID:33204589|PMID:33223529|PMID:33270637|PMID:33890232|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714006|PMID:9714007 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731756 D RGD:734884|PMID:11230174 19990101 RGD 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:5082 liver cirrhosis ISO RGD:731755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:731755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405455|PMID:10677299|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11471166|PMID:11562938|PMID:11745994|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:16044199|PMID:16181459|PMID:16207203|PMID:16392899|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:29455191|PMID:29907799|PMID:31178897|PMID:31395954|PMID:33223529|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714007 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:687 hepatoblastoma ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12270273|PMID:15670717|PMID:16207203|PMID:16392899|PMID:23042628|PMID:24813812|PMID:25741868|PMID:27401223|PMID:28250423|PMID:28492532|PMID:29300326 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:731755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:10677299|PMID:10896306|PMID:11175299|PMID:12270273|PMID:12818773|PMID:15464432|PMID:15521979|PMID:15776424|PMID:16983147|PMID:18249054|PMID:24500076|PMID:25040602|PMID:25741868|PMID:27513191|PMID:28492532 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:9005603 Muscle Hypotonia ISO RGD:731756 D RGD:734884|PMID:11230174 19990101 RGD 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:9006205 Animal Disease Models ISO RGD:731755 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29698737 621769 Dhcr7 7-dehydrocholesterol reductase gene DOID:9008086 Developmental Disabilities ISO RGD:731755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10677299|PMID:10807690|PMID:10814720|PMID:10995508|PMID:11161831|PMID:11175299|PMID:11241839|PMID:11427181|PMID:11562938|PMID:12794707|PMID:15286151|PMID:15464432|PMID:15776424|PMID:15805162|PMID:15952211|PMID:16761297|PMID:16906538|PMID:17576681|PMID:17965227|PMID:18285838|PMID:19365639|PMID:20301322|PMID:20635399|PMID:21777499|PMID:22211794|PMID:22226660|PMID:22438180|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23918729|PMID:24033266|PMID:24824134|PMID:25108116|PMID:25741868|PMID:25807282|PMID:26467025|PMID:28166604|PMID:28492532|PMID:29455191|PMID:35305950|PMID:8259166|PMID:8737829|PMID:9024557|PMID:9536098|PMID:9653161|PMID:9683613 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0060224 atrial fibrillation ISO RGD:1351428 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISS RGD:1558001 D RGD:13592920 20210930 MouseDO 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:7240710 20180704 OMIM 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11101850|PMID:11279527|PMID:11941538|PMID:16199547|PMID:16927315|PMID:17213231|PMID:20080505|PMID:20542149|PMID:20644199|PMID:21228398|PMID:23836246|PMID:24088041|PMID:24781210|PMID:24912484|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:27268795|PMID:27521129|PMID:27766954|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29302074|PMID:29901129|PMID:30362252 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11279527 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:7240710 20130425 OMIM 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan PMID:25741868|PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:10763 hypertension IEP D RGD:1624258|PMID:8225534 20070507 RGD mRNA:increased expression:aorta 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:10907 microcephaly ISO RGD:1351428 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:13481 thanatophoric dysplasia ISS RGD:1558001 D RGD:13592920 20180518 MouseDO OMIM:187600 | OMIM:187601 | OMIM:273680 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1351428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545953|PMID:11279527 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities PMID:25741868|PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1351428 D RGD:1624267|PMID:11101850 20070507 RGD Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:3407 carotid artery disease ISO RGD:1351428 D RGD:1624254|PMID:16620836 20070507 RGD mRNA, protein:decreased expression:carotid artery 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:4195 hyperglycemia ISO RGD:1351428 D RGD:1624255|PMID:15056491 20070507 RGD protein:decreased expression:endothelial cell 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30362252|PMID:30871259|PMID:9536098 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:65 connective tissue disease ISO RGD:1351428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16927315|PMID:17576681|PMID:21228398|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29271572|PMID:9536098 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:11279527|PMID:17576681|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25741881|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29620724|PMID:29901129|PMID:30362252|PMID:34244600|PMID:34906502|PMID:9536098 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1624265|PMID:9068943 20070507 RGD mRNA:decreased expression:retina 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1351428 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10545953 621770 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome PMID:25741868|PMID:28492532 621771 Naa35 N(alpha)-acetyltransferase 35, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1347911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621774 Rplp1 ribosomal protein lateral stalk subunit P1 gene DOID:2717 Bloom syndrome ISO RGD:736952 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621774 Rplp1 ribosomal protein lateral stalk subunit P1 gene DOID:630 genetic disease ISO RGD:736952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621774 Rplp1 ribosomal protein lateral stalk subunit P1 gene DOID:9256 colorectal cancer ISO RGD:736952 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0050729 neutral lipid storage disease ISO RGD:735289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735289 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735289 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735289 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:630 genetic disease ISO RGD:735289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 621775 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:9008939 Breast Neoplasms ISO RGD:735289 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 621776 Stc1 stanniocalcin 1 gene DOID:630 genetic disease ISO RGD:730961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621776 Stc1 stanniocalcin 1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2324700|PMID:15485913 20100512 RGD mRNA:increased expression:cerebral cortex 621777 Stc2 stanniocalcin 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1352877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 621777 Stc2 stanniocalcin 2 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 621777 Stc2 stanniocalcin 2 gene DOID:289 endometriosis ISO RGD:1352877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 621777 Stc2 stanniocalcin 2 gene DOID:630 genetic disease ISO RGD:1352877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621777 Stc2 stanniocalcin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352877 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 621777 Stc2 stanniocalcin 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2324700|PMID:15485913 20100512 RGD mRNA, protein:increased expression:cerebral cortex 621777 Stc2 stanniocalcin 2 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2313895|PMID:18959458 20100512 RGD mRNA:increased expression:mammary gland 621777 Stc2 stanniocalcin 2 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 621777 Stc2 stanniocalcin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352877 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18492817 621778 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:734025 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 621778 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:1936 atherosclerosis ISO RGD:734025 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 621778 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:450 myotonic disease ISO RGD:734025 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:27030674 621778 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621779 Sec14l2 SEC14-like lipid binding 2 gene DOID:630 genetic disease ISO RGD:736725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349510 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0050476 Barth syndrome ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:7240710 20180502 OMIM 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:10364516|PMID:10438713|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:12437656|PMID:1361371|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:18627054|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:21931702|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:23946118|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29483670|PMID:29625052|PMID:29921932|PMID:3009302|PMID:31027506|PMID:31268371|PMID:31474318|PMID:32126783|PMID:7607282|PMID:9042917|PMID:9590285 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1349510 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21931702|PMID:25741868|PMID:31474318 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349510 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:12449 aplastic anemia ISO RGD:1349510 D RGD:11251733|PMID:26360549 20160620 RGD DNA:missense mutations:exon:p.V105G, p.S121A (human) 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:12849 autistic disorder ISO RGD:1349510 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:13628 favism ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1615626 D RGD:11251731|PMID:12522253 20160620 RGD 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2355 anemia ISO RGD:1615626 D RGD:11251731|PMID:12522253 20160620 RGD 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:10755414|PMID:10364516 20160127 RGD DNA:missense mutations, splice-site mutaion:exon, intron:multiple 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:11251732|PMID:23946118 20160620 RGD DNA:missense mutation:exon: p.P409A (c.1226C>G) (human) 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:11251734|PMID:10583221 20160620 RGD DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human) 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785587|PMID:22299032 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:734888|PMID:9590285 20160127 RGD DNA:missense mutations, deletion: :multiple 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10364516|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:17576681|PMID:18177777|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25455995|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29625052|PMID:29921932|PMID:31027506|PMID:31268371|PMID:32126783|PMID:7607282|PMID:9536098|PMID:9590285 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1615626 D RGD:11251731|PMID:12522253 20160620 RGD 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:607 paraplegia ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349510 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:614 lymphopenia ISO RGD:1615626 D RGD:11251731|PMID:12522253 20160620 RGD 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:10583221|PMID:12437656|PMID:19734544|PMID:20301779|PMID:28492532|PMID:31027506|PMID:7607282 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349510 D RGD:11251735|PMID:18077792 20160620 RGD 621780 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9002720 Splenomegaly ISO RGD:1349510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 621781 Mapre1 microtubule-associated protein, RP/EB family, member 1 gene DOID:630 genetic disease ISO RGD:1353139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621781 Mapre1 microtubule-associated protein, RP/EB family, member 1 gene DOID:9004657 Weight Gain ISO RGD:1353139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 621781 Mapre1 microtubule-associated protein, RP/EB family, member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353139 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621782 Il1rl2 interleukin 1 receptor-like 2 gene DOID:0080685 aortic dissection ISO RGD:1353187 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 621782 Il1rl2 interleukin 1 receptor-like 2 gene DOID:630 genetic disease ISO RGD:1353187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621782 Il1rl2 interleukin 1 receptor-like 2 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210513 RGD compared to Wild Type in cardiopulmonary bypass model 621783 Tspan8 tetraspanin 8 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 621783 Tspan8 tetraspanin 8 gene DOID:3007 breast ductal carcinoma ISO RGD:736010 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 621783 Tspan8 tetraspanin 8 gene DOID:630 genetic disease ISO RGD:736010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621783 Tspan8 tetraspanin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621784 Tm4sf4 transmembrane 4 L six family member 4 gene DOID:0050579 glycogen storage disease XV ISO RGD:731779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 621784 Tm4sf4 transmembrane 4 L six family member 4 gene DOID:409 liver disease ISO RGD:731779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17069928 621784 Tm4sf4 transmembrane 4 L six family member 4 gene DOID:630 genetic disease ISO RGD:731779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621785 Gyg1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:7240710 20130221 OMIM 621785 Gyg1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:16199547|PMID:17576681|PMID:20357282|PMID:22198226|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27544502|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:32528171|PMID:9536098 621785 Gyg1 glycogenin 1 gene DOID:2747 glycogen storage disease ISO RGD:1348748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 621785 Gyg1 glycogenin 1 gene DOID:630 genetic disease ISO RGD:1348748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621785 Gyg1 glycogenin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1348748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 621785 Gyg1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:7240710 20170208 OMIM 621785 Gyg1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy type 2 PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:32528171|PMID:9536098 621785 Gyg1 glycogenin 1 gene DOID:9005532 Muscle Weakness ISO RGD:1348748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 621785 Gyg1 glycogenin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621786 Bin1 bridging integrator 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:732350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 621786 Bin1 bridging integrator 1 gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:732350 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism 621786 Bin1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:7240710 20180117 OMIM 621786 Bin1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:16199547|PMID:17576681|PMID:17676042|PMID:18414213|PMID:20142620|PMID:22912834|PMID:22960267|PMID:24033266|PMID:24755653|PMID:25262827|PMID:25640679|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:29103045|PMID:29950440|PMID:31127772|PMID:9536098 621786 Bin1 bridging integrator 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 621786 Bin1 bridging integrator 1 gene DOID:10652 Alzheimer's disease ISO RGD:732350 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:21460841|PMID:33589840 621786 Bin1 bridging integrator 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732350 D RGD:1580047|PMID:12532338 19990101 RGD 621786 Bin1 bridging integrator 1 gene DOID:3459 breast carcinoma ISO RGD:732350 D RGD:1580043|PMID:10652430 19990101 RGD 621786 Bin1 bridging integrator 1 gene DOID:422 congenital structural myopathy ISO RGD:732350 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism PMID:17676042 621786 Bin1 bridging integrator 1 gene DOID:630 genetic disease ISO RGD:732350 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621786 Bin1 bridging integrator 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732350 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1342685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:25590979|PMID:25741868|PMID:30257206 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342685 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:630 genetic disease ISO RGD:1342685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1342685 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342685 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 621787 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 621788 Gde1 glycerophosphodiester phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:734410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621789 Acvr1c activin A receptor type 1C gene DOID:0060041 autism spectrum disorder ISO RGD:734123 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 621789 Acvr1c activin A receptor type 1C gene DOID:630 genetic disease ISO RGD:734123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621790 Exoc3 exocyst complex component 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344149 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 621790 Exoc3 exocyst complex component 3 gene DOID:630 genetic disease ISO RGD:1344149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621790 Exoc3 exocyst complex component 3 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1344149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 621791 Exoc4 exocyst complex component 4 gene DOID:0050778 Meckel syndrome ISO RGD:1353036 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 621791 Exoc4 exocyst complex component 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353036 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621791 Exoc4 exocyst complex component 4 gene DOID:630 genetic disease ISO RGD:1353036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621792 Actn3 actinin alpha 3 gene DOID:1059 intellectual disability ISO RGD:734136 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621792 Actn3 actinin alpha 3 gene DOID:630 genetic disease ISO RGD:734136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621792 Actn3 actinin alpha 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734136 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 621792 Actn3 actinin alpha 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 621793 Pde11a phosphodiesterase 11A gene DOID:0090022 split hand-foot malformation 5 ISO RGD:737612 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 621793 Pde11a phosphodiesterase 11A gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:737612 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 621793 Pde11a phosphodiesterase 11A gene DOID:5419 schizophrenia ISO RGD:737612 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621793 Pde11a phosphodiesterase 11A gene DOID:630 genetic disease ISO RGD:737612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621793 Pde11a phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:7240710 20130221 OMIM 621793 Pde11a phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:21681106|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 621794 Or2b2 olfactory receptor family 2 subfamily B member 2 gene DOID:630 genetic disease ISO RGD:733998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1343402 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25927852 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24360805|PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532|PMID:28577616|PMID:29449551|PMID:30686508|PMID:30811583|PMID:31507630|PMID:31765523|PMID:33968654|PMID:34867808|PMID:9536098 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1343402 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:28492532 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 PMID:16199547|PMID:24033266|PMID:24360805|PMID:25741868|PMID:25927852|PMID:27573432|PMID:27798045|PMID:28492532 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1343402 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder PMID:24033266 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343402 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:630 genetic disease ISO RGD:1343402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1343402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:21874000|PMID:23684012|PMID:28492532 621795 Dnah1 dynein, axonemal, heavy chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532 621797 Dnah6 dynein, axonemal, heavy chain 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1347757 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Situs ambiguus 621797 Dnah6 dynein, axonemal, heavy chain 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1551162 D RGD:13432158|PMID:24282028 20170921 RGD 621797 Dnah6 dynein, axonemal, heavy chain 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347757 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 621797 Dnah6 dynein, axonemal, heavy chain 6 gene DOID:630 genetic disease ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621797 Dnah6 dynein, axonemal, heavy chain 6 gene DOID:758 situs inversus ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1317528 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:12849 autistic disorder ISO RGD:1317528 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autism 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:1826 epilepsy ISO RGD:1317528 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:630 genetic disease ISO RGD:1317528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:7240710 20230505 OMIM 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317528 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621798 Dnah7 dynein, axonemal, heavy chain 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:7240710 20190315 OMIM 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30471717|PMID:30471718|PMID:9536098 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:10283 prostate cancer ISO RGD:1313302 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:10908 hydrocephalus ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532|PMID:30471718 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:5419 schizophrenia ISO RGD:1313302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:630 genetic disease ISO RGD:1313302 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:28492532|PMID:30471718 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:9008386 Hydrops Fetalis ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:30471718|PMID:33027564 621799 Dnah9 dynein, axonemal, heavy chain 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532|PMID:30471718 621800 Camk1g calcium/calmodulin-dependent protein kinase IG gene DOID:1540 parathyroid carcinoma ISO RGD:732495 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621800 Camk1g calcium/calmodulin-dependent protein kinase IG gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732495 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:23624525 621800 Camk1g calcium/calmodulin-dependent protein kinase IG gene DOID:630 genetic disease ISO RGD:732495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621800 Camk1g calcium/calmodulin-dependent protein kinase IG gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732495 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:11554173 20180710 CTD CTD Direct Evidence: marker/mechanism PMID:11803487 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:13209130|PMID:15710860 20170830 RGD DNA:mutation:intron:IVS1-23A>C(human) 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:13209134|PMID:11601506 20170830 RGD DNA:deletion:cds:108delG(human) 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:13209136|PMID:17471106 20170830 RGD DNA:mutation:exon:116delT(Q38fsX64)(human) 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:7240710 20180613 OMIM 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome PMID:10878669|PMID:11405816|PMID:11601506|PMID:11803487|PMID:15037720|PMID:15710860|PMID:16411215|PMID:17851739|PMID:17936919|PMID:17999202|PMID:20301395|PMID:24033266|PMID:25741868|PMID:8841189 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350353 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350353 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:11956200|PMID:21984432|PMID:22736418|PMID:28492532|PMID:7711734|PMID:9445504|PMID:9545398 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:12849 autistic disorder ISO RGD:1350353 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:14499 Fabry disease ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1551300 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:543 dystonia ISO RGD:1350353 D RGD:13209134|PMID:11601506 20170830 RGD DNA:deletion:cds:108delG(human) 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:543 dystonia susceptibility ISO RGD:1350353 D RGD:1600152|PMID:11405816 20070228 RGD DNA:mutation:exon; associated with deafness 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:630 genetic disease ISO RGD:1350353 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:9006205 Animal Disease Models ISO RGD:1551300 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 621801 Timm8a1 translocase of inner mitochondrial membrane 8A1 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 621802 Camk2g calcium/calmodulin-dependent protein kinase II gamma gene DOID:1059 intellectual disability ISO RGD:1604851 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:30184290 621802 Camk2g calcium/calmodulin-dependent protein kinase II gamma gene DOID:12849 autistic disorder ISO RGD:1604851 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Autism PMID:23033978|PMID:25741868|PMID:30184290 621802 Camk2g calcium/calmodulin-dependent protein kinase II gamma gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1604851 D RGD:13702480|PMID:12937144 20180718 RGD 621802 Camk2g calcium/calmodulin-dependent protein kinase II gamma gene DOID:630 genetic disease ISO RGD:1604851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621802 Camk2g calcium/calmodulin-dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:7240710 20200129 OMIM 621802 Camk2g calcium/calmodulin-dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 59 PMID:23033978|PMID:25741868|PMID:30184290 621803 Hsd17b2 hydroxysteroid (17-beta) dehydrogenase 2 gene DOID:289 endometriosis ISO RGD:1353008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21232532 621803 Hsd17b2 hydroxysteroid (17-beta) dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621803 Hsd17b2 hydroxysteroid (17-beta) dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 621803 Hsd17b2 hydroxysteroid (17-beta) dehydrogenase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 621804 Allc allantoicase gene DOID:630 genetic disease ISO RGD:736731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:7240710 20130425 OMIM 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency PMID:10599740|PMID:11158067|PMID:12429500|PMID:16199547|PMID:17466011|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:28739554|PMID:2918056|PMID:3066852|PMID:30668521|PMID:32297288|PMID:36606580|PMID:598011|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9467575|PMID:9536098|PMID:9709959|PMID:9758445 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:1059 intellectual disability ISO RGD:1344400 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344400 D RGD:4889108|PMID:18180323 20101124 RGD mRNA:altered expression:cerebellum, hippocampus (human) 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:1923 disorder of sexual development ISO RGD:1344400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17071532 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:1923 disorder of sexual development ISO RGD:1344400 D RGD:1599964|PMID:8075637 20070222 RGD 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:1923 disorder of sexual development ISO RGD:1344400 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:3765 pseudohermaphroditism ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism PMID:10599740|PMID:12429500|PMID:16199547|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:2918056|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9536098|PMID:9758445 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:630 genetic disease ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10599740|PMID:16199547|PMID:17509588|PMID:17576681|PMID:23295294|PMID:23796702|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:28492532|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:9536098 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344400 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12210481 621805 Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4889107|PMID:18481435 20101124 RGD mRNA:decreased expression:testis, Leydig cell (rat) 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0050562 West syndrome ISO RGD:731284 D RGD:11554173 20180605 CTD CTD Direct Evidence: marker/mechanism PMID:16919904 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0050857 Perrault syndrome ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:20673864|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31455392|PMID:4061497|PMID:9482850|PMID:9915948 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0080600 COVID-19 ISO RGD:731284 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:1599968|PMID:9345094 20070222 RGD 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:7240710 20130221 OMIM 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency PMID:10400999|PMID:10419023|PMID:10497229|PMID:10671535|PMID:10748062|PMID:11330053|PMID:11743515|PMID:11810648|PMID:11992265|PMID:12562856|PMID:16199547|PMID:16385454|PMID:17576681|PMID:20673864|PMID:20681997|PMID:22507161|PMID:22864515|PMID:23100014|PMID:23181892|PMID:23308274|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:24602372|PMID:25741868|PMID:25882080|PMID:25954003|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27243974|PMID:27290639|PMID:27528516|PMID:27618451|PMID:27650058|PMID:27790638|PMID:28017249|PMID:28490743|PMID:28492532|PMID:28649525|PMID:2868085|PMID:28708278|PMID:2882519|PMID:28830375|PMID:28973083|PMID:2921319|PMID:30396834|PMID:30561787|PMID:31230720|PMID:31455392|PMID:32042923|PMID:33510602|PMID:33539324|PMID:34440436|PMID:34660840|PMID:8279468|PMID:9345094|PMID:9482850|PMID:9536098|PMID:9915948 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency severity ISO RGD:731284 D RGD:10411884|PMID:16385454 20151110 RGD DNA:mutations:multiple (human) 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:10763 hypertension IEP D RGD:2292646|PMID:18430809 20151110 RGD mRNA:decreased expression:renal cortex (rat) 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:13366 Stiff-Person syndrome ISO RGD:731284 D RGD:10411898|PMID:12225901 20151110 RGD 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:630 genetic disease ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810648|PMID:16385454|PMID:22864515|PMID:24033266|PMID:25741868|PMID:25954003|PMID:25967389|PMID:27618451|PMID:27790638|PMID:28490743|PMID:28492532|PMID:28649525|PMID:31230720 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:7240710 20141015 OMIM 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:17576681|PMID:20673864|PMID:22864515|PMID:23181892|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31230720|PMID:31455392|PMID:32747562|PMID:33539324|PMID:34906502|PMID:4061497|PMID:9482850|PMID:9536098|PMID:9915948 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731284 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9006534 Nervous System Malformations ISO RGD:731284 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:731284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:10419023|PMID:10497229|PMID:16385454|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26970254|PMID:28492532|PMID:28708278|PMID:9482850|PMID:9915948 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:905 Zellweger syndrome ISO RGD:731284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10343282 621806 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 gene DOID:906 peroxisomal disease ISO RGD:731284 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9345094|PMID:16385454 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:7240710 20190315 OMIM 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:8554872 20211019 ClinVar ClinVar Annotator: match by term: Myotonic dystrophy type 2 PMID:25741868 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:0111947 immunodeficiency 21 ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:28492532 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:450 myotonic disease ISO RGD:733498 D RGD:11554173 20200526 CTD CTD Direct Evidence: marker/mechanism 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:630 genetic disease ISO RGD:733498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 621807 Cnbp CCHC-type zinc finger, nucleic acid binding protein gene DOID:9270 alkaptonuria ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 621808 Park7 Parkinsonism associated deglycase gene DOID:0060368 Parkinson's disease 2 ISO RGD:1344212 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:25741868 621808 Park7 Parkinsonism associated deglycase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344212 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:16632486 621808 Park7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28348719 621808 Park7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:7240710 20130221 OMIM 621808 Park7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7 PMID:12446870|PMID:12891675|PMID:12891685|PMID:12953260|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15254937|PMID:15365989|PMID:15790532|PMID:15944198|PMID:16997464|PMID:17576681|PMID:18181649|PMID:1818649|PMID:18436956|PMID:18436965|PMID:18973254|PMID:19405094|PMID:19429112|PMID:20639397|PMID:20806408|PMID:20981092|PMID:21532868|PMID:22173095|PMID:22428580|PMID:22492997|PMID:22960331|PMID:22995991|PMID:23183826|PMID:23241025|PMID:23792957|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27085187|PMID:27294386|PMID:27592010|PMID:27884173|PMID:28492532|PMID:28993701|PMID:29599708|PMID:31028127|PMID:32144268|PMID:33795807|PMID:9536098 621808 Park7 Parkinsonism associated deglycase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344212 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 621808 Park7 Parkinsonism associated deglycase gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344212 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism IEP D RGD:13463458|PMID:22710069 20171214 RGD protein:decreased expression:brain 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism IMP D RGD:13210569|PMID:24969022 20171211 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism ISO RGD:1344212 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:23046578|PMID:26558463 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism ISO RGD:1344212 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment IDA D RGD:13462067|PMID:22041943 20171211 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment IMP D RGD:13463452|PMID:18373560 20171213 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:1344212 D RGD:1601076|PMID:16860563 20070405 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1344212 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:12891685|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15790532|PMID:16997464|PMID:19429112|PMID:22173095|PMID:22428580|PMID:22960331|PMID:22995991|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27294386|PMID:27592010|PMID:28492532 621808 Park7 Parkinsonism associated deglycase gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1344212 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868 621808 Park7 Parkinsonism associated deglycase gene DOID:11476 osteoporosis ISO RGD:1344212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 621808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease IMP D RGD:12880446|PMID:24157858 20170508 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease ISO RGD:1344212 D RGD:10450523|PMID:23766857 20160115 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease ISO RGD:1344212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15784737|PMID:17010972|PMID:20423725|PMID:20800516|PMID:22043175|PMID:22898350|PMID:23037695|PMID:23792957|PMID:25149416 621808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease ISO RGD:1344212 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:12953260|PMID:20981092|PMID:26467025|PMID:27884173|PMID:28492532 621808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease onset ISO RGD:1344212 D RGD:1601073|PMID:12851414 20070405 RGD DNA:missense mutation, deletion: :L166P 621808 Park7 Parkinsonism associated deglycase gene DOID:231 motor neuron disease ISO RGD:1344212 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 621808 Park7 Parkinsonism associated deglycase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344212 D RGD:13463450|PMID:17882163 20171213 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction ISO RGD:1552781 D RGD:13462069|PMID:18003894 20171211 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction treatment ISO RGD:1344212 D RGD:13462069|PMID:18003894 20171211 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:630 genetic disease ISO RGD:1344212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621808 Park7 Parkinsonism associated deglycase gene DOID:684 hepatocellular carcinoma ISO RGD:1344212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 621808 Park7 Parkinsonism associated deglycase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 621808 Park7 Parkinsonism associated deglycase gene DOID:9000582 Reticulocytosis ISO RGD:1344212 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 621808 Park7 Parkinsonism associated deglycase gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP D RGD:151347449|PMID:29069575 20220125 RGD 621808 Park7 Parkinsonism associated deglycase gene DOID:9002955 Nerve Degeneration ISO RGD:1344212 D RGD:11554173 20201106 CTD CTD Direct Evidence: therapeutic PMID:29649621 621808 Park7 Parkinsonism associated deglycase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344212 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621808 Park7 Parkinsonism associated deglycase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344212 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:732601 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:23661369|PMID:24938718|PMID:25741868|PMID:28492532 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:7240710 20140911 OMIM 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25412400|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29800053|PMID:29912909|PMID:30718709|PMID:31054281|PMID:31931872|PMID:31960602|PMID:31980526|PMID:32037395|PMID:33546218|PMID:33847019|PMID:33946315|PMID:9536098 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11379879 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:734793|PMID:11379879 19990101 RGD 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8547535|PMID:23701314 20140217 RGD 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:32037395|PMID:33546218|PMID:9536098 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:9536098 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:630 genetic disease ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621809 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:8501 fundus dystrophy ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15557452|PMID:16199547|PMID:21147909|PMID:21987686|PMID:23105016|PMID:24043777|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:31456290|PMID:33465333|PMID:33576794|PMID:33847019 621810 Gbp2 guanylate binding protein 2 gene DOID:630 genetic disease ISO RGD:736152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621810 Gbp2 guanylate binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621810 Gbp2 guanylate binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:736152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621811 Fstl3 follistatin like 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348302 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 621811 Fstl3 follistatin like 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 621811 Fstl3 follistatin like 3 gene DOID:630 genetic disease ISO RGD:1348302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:0060496 respiratory allergy ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23056391 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:0080599 Coronavirus infectious disease IEP D RGD:5135236|PMID:17804032 20110714 RGD 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:0080600 COVID-19 ISO RGD:1343759 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:10459 common cold ISO RGD:1343759 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell PMID:20395558|REF_RGD_ID:4145446 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:1205 allergic disease ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:1485 cystic fibrosis ISO RGD:1343759 D RGD:5135456|PMID:19597126 20110721 RGD 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:2841 asthma severity ISO RGD:1343759 D RGD:9068941 20200609 RGD PMID:20371397|REF_RGD_ID:5134983 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1614055 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343759 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:552 pneumonia ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:630 genetic disease ISO RGD:1343759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:874 bacterial pneumonia IEP D RGD:5135234|PMID:11052817 20110714 RGD 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12388339 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1343759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9001472 Nasal Polyps ISO RGD:1343759 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:respiratory system mucosa PMID:19178793|REF_RGD_ID:5134986 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9005372 Inflammation IEP D RGD:5135240|PMID:8833037 20110714 RGD 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1343759 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16118408 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9007730 Burns IEP D RGD:5135231|PMID:18391855 20110714 RGD protein:increased expression:serum 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9279 hyperhomocysteinemia ISO RGD:1343759 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11950713|REF_RGD_ID:5135249 621812 Cxcl3 C-X-C motif chemokine ligand 3 gene DOID:9675 pulmonary emphysema ISO RGD:1614055 D RGD:5135245|PMID:17023518 20110715 RGD mRNA:increased expression:lung 621813 Atxn10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:7240710 20130425 OMIM 621813 Atxn10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 PMID:25741868 621813 Atxn10 ataxin 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351525 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 621813 Atxn10 ataxin 10 gene DOID:1059 intellectual disability ISO RGD:1351525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621813 Atxn10 ataxin 10 gene DOID:630 genetic disease ISO RGD:1351525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621813 Atxn10 ataxin 10 gene DOID:9002121 Spinocerebellar Ataxias susceptibility ISO RGD:1351525 D RGD:1599410|PMID:11017075 20070201 RGD 621814 Slc2a13 solute carrier family 2 member 13 gene DOID:303 substance-related disorder ISO RGD:731999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 621814 Slc2a13 solute carrier family 2 member 13 gene DOID:630 genetic disease ISO RGD:731999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:730948 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:7479749 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:7240710 20140911 OMIM 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:12362048|PMID:15570217|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30652268|PMID:30718709|PMID:36115851|PMID:7479749 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:730948 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7479749 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:1300380|PMID:7479749 19990101 RGD 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8547535|PMID:23701314 20140217 RGD 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:4448 macular degeneration ISO RGD:730948 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:7479749 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621815 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:730948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12362048|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30543658|PMID:30718709|PMID:32037395|PMID:7479749 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732365 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:7240710 20190315 OMIM 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder PMID:25741868|PMID:27019227|PMID:28492532 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:7240710 20190821 OMIM 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type PMID:17576681|PMID:25741868|PMID:27019227|PMID:28492532|PMID:31006512|PMID:9536098 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732365 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:732365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621816 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732365 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1059 intellectual disability ISO RGD:731623 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:2746 glycogen storage disease V ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:3070 high grade glioma ISO RGD:731623 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:630 genetic disease ISO RGD:731623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 621817 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 621818 Omd osteomodulin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736115 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 621818 Omd osteomodulin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 621818 Omd osteomodulin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 621818 Omd osteomodulin gene DOID:630 genetic disease ISO RGD:736115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621820 Gja3 gap junction protein, alpha 3 gene DOID:0110231 cataract 1 multiple types ISO RGD:1349664 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Zonular Pulverulent Cataract 621820 Gja3 gap junction protein, alpha 3 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349664 D RGD:7240710 20130221 OMIM 621820 Gja3 gap junction protein, alpha 3 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3 PMID:10205266|PMID:10746562|PMID:15208569|PMID:15286166|PMID:15448617|PMID:16204255|PMID:16885921|PMID:19182255|PMID:20431721|PMID:21681855|PMID:21897748|PMID:22312188|PMID:22550389|PMID:22843197|PMID:22876138|PMID:23734083|PMID:25148791|PMID:25741868|PMID:26694549|PMID:27275416|PMID:27609163|PMID:28492532|PMID:28877251|PMID:29321356|PMID:29934635 621820 Gja3 gap junction protein, alpha 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349664 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 621820 Gja3 gap junction protein, alpha 3 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 621820 Gja3 gap junction protein, alpha 3 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 621820 Gja3 gap junction protein, alpha 3 gene DOID:14693 Clouston syndrome ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 621820 Gja3 gap junction protein, alpha 3 gene DOID:2121 ectodermal dysplasia ISO RGD:1349664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 621820 Gja3 gap junction protein, alpha 3 gene DOID:630 genetic disease ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621820 Gja3 gap junction protein, alpha 3 gene DOID:83 cataract IAGP D RGD:1599824|PMID:16271086 20070216 RGD DNA:missense mutation 621820 Gja3 gap junction protein, alpha 3 gene DOID:83 cataract ISO RGD:1349664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15208569|PMID:16885921|PMID:19182255|PMID:22843197|PMID:25741868|PMID:26694549|PMID:27609163|PMID:28492532|PMID:29934635 621820 Gja3 gap junction protein, alpha 3 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1349664 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:25741868 621820 Gja3 gap junction protein, alpha 3 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:1349664 D RGD:1578473|PMID:15448617 19990101 RGD DNA:missense mutation:cds:p.N188T (human) 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:1059 intellectual disability ISO RGD:732679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732679 D RGD:6484520|PMID:19010819 20120620 RGD DNA,mRNA:hypomethylation,increased expression:promoter,breast 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:732680 D RGD:737746|PMID:12119409 19990101 RGD 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:417 autoimmune disease ISO RGD:732680 D RGD:6484213|PMID:17589521 20120613 RGD DNA:missense mutation:cds:p.E160D 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732679 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:732679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:9002245 Intestinal Neoplasms disease_progression ISO RGD:732680 D RGD:737746|PMID:12119409 20120613 RGD DNA:haploinsufficiency: : 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732679 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:28371273 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732680 D RGD:6484213|PMID:17589521 20120613 RGD DNA:missense mutation:cds:p.E160D 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 621821 Fen1 flap structure-specific endonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732679 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:10273 heart conduction disease ISS RGD:731948 D RGD:13592920 20180518 MouseDO 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22533655 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:1624279|PMID:17124432 20070507 RGD DNA:polymorphism:1287G>A 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:11569 neurocirculatory asthenia ISO RGD:731947 D RGD:1624278|PMID:10684912 20070507 RGD orthostatic intolerance,OMIM:604715;DNA:point mutation:exon:A457P 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:11569 neurocirculatory asthenia ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurocirculatory asthenia PMID:10684912|PMID:11875370 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:1596 depressive disorder IEP D RGD:6218960|PMID:18800064 20120307 RGD 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:630 genetic disease ISO RGD:731947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11458707 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:7240710 20130221 OMIM 621822 Slc6a2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SLC6A2-related disorder 621823 Serpinb2 serpin family B member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 621823 Serpinb2 serpin family B member 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 621823 Serpinb2 serpin family B member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1343432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 621823 Serpinb2 serpin family B member 2 gene DOID:574 peripheral nervous system disease ISO RGD:1343432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 621823 Serpinb2 serpin family B member 2 gene DOID:630 genetic disease ISO RGD:1343432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621823 Serpinb2 serpin family B member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 621823 Serpinb2 serpin family B member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:0060695 hyperekplexia ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia PMID:16884688|PMID:24033266|PMID:25741868|PMID:28492532 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:7240710 20140911 OMIM 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:14622583|PMID:16199547|PMID:16751771|PMID:16884688|PMID:17576681|PMID:18707791|PMID:20301437|PMID:21515498|PMID:22114948|PMID:22700964|PMID:22753417|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29859229|PMID:31370103|PMID:31604777|PMID:32714574|PMID:33310157|PMID:33794243|PMID:9536098 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:1059 intellectual disability ISO RGD:732915 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:13366 Stiff-Person syndrome ISO RGD:732915 D RGD:11554173 20191231 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:630 genetic disease ISO RGD:732915 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700964|PMID:25741868|PMID:28492532|PMID:33794243 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:9004992 Apnea ISO RGD:732915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:12158665 D RGD:9068941 20211105 OMIA Hyperekplexia (Startle disease) PMID:21420493|PMID:30847549|PMID:33769611|PMID:6524730 621824 Slc6a5 solute carrier family 6 member 5 gene DOID:936 brain disease ISO RGD:732915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 621825 Pfn1 profilin 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:733332 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 621825 Pfn1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:7240710 20140903 OMIM 621825 Pfn1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 PMID:22801503|PMID:25741868|PMID:26908597|PMID:28492532|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 621825 Pfn1 profilin 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:733332 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 621825 Pfn1 profilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868|PMID:26908597|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 621825 Pfn1 profilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733332 D RGD:2317552|PMID:16215274 20100513 RGD 621825 Pfn1 profilin 1 gene DOID:2920 membranoproliferative glomerulonephritis IDA D RGD:729497|PMID:8651905 19990101 RGD 621825 Pfn1 profilin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 621825 Pfn1 profilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733332 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 621825 Pfn1 profilin 1 gene DOID:630 genetic disease ISO RGD:733332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621825 Pfn1 profilin 1 gene DOID:9000058 Keloid ISO RGD:733332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 621825 Pfn1 profilin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621826 Pfn2 profilin 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 621826 Pfn2 profilin 2 gene DOID:630 genetic disease ISO RGD:734176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621826 Pfn2 profilin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:734176 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 621827 Strn3 striatin 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:737101 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 621827 Strn3 striatin 3 gene DOID:630 genetic disease ISO RGD:737101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621827 Strn3 striatin 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621828 Khsrp KH-type splicing regulatory protein gene DOID:0080490 mucolipidosis type IV ISO RGD:1346672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 621828 Khsrp KH-type splicing regulatory protein gene DOID:5409 lung small cell carcinoma ISO RGD:1346672 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 621828 Khsrp KH-type splicing regulatory protein gene DOID:630 genetic disease ISO RGD:1346672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621829 Gjb4 gap junction protein, beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:12437072|PMID:23037955 20170126 RGD DNA:missense mutation:exon:p.C86S (c.256T>A) (human) 621829 Gjb4 gap junction protein, beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:1598970|PMID:12648223 20070109 RGD DNA:missense mutations:exon:multiple 621829 Gjb4 gap junction protein, beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:1598971|PMID:11017804 20070109 RGD DNA:missense mutation: :p.F137L (human) 621829 Gjb4 gap junction protein, beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:7240710 20190315 OMIM 621829 Gjb4 gap junction protein, beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 PMID:11017804|PMID:11933201|PMID:12648223|PMID:148984|PMID:25741868|PMID:28492532|PMID:6437964 621829 Gjb4 gap junction protein, beta 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352157 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 621829 Gjb4 gap junction protein, beta 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 621829 Gjb4 gap junction protein, beta 4 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 621829 Gjb4 gap junction protein, beta 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1352157 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:25741868 621829 Gjb4 gap junction protein, beta 4 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1352157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 621829 Gjb4 gap junction protein, beta 4 gene DOID:630 genetic disease ISO RGD:1352157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621830 Gjb6 gap junction protein, beta 6 gene DOID:0050563 nonsyndromic deafness ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:25741868|PMID:28823936|PMID:30311386 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349249 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:7240710 20130221 OMIM 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:7240710 20130221 OMIM 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:7240710 20130221 OMIM 621830 Gjb6 gap junction protein, beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:10471490|PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:20858605|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 621830 Gjb6 gap junction protein, beta 6 gene DOID:0111737 X-linked deafness 2 ISO RGD:1349249 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621830 Gjb6 gap junction protein, beta 6 gene DOID:0111737 X-linked deafness 2 ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:11017065|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:20536673|PMID:22106692|PMID:23219093|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27817781|PMID:28492532 621830 Gjb6 gap junction protein, beta 6 gene DOID:11832 visual epilepsy IEP D RGD:7364770|PMID:23149765 20130926 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:7240710 20191127 OMIM 621830 Gjb6 gap junction protein, beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome PMID:10610709|PMID:11017065|PMID:11807148|PMID:11874494|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 621830 Gjb6 gap junction protein, beta 6 gene DOID:1824 status epilepticus IEP D RGD:632751|PMID:12359154 20130926 RGD mRNA:increased expression:brain 621830 Gjb6 gap junction protein, beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:11554173 20191203 CTD CTD Direct Evidence: marker/mechanism 621830 Gjb6 gap junction protein, beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:1599828|PMID:11017065 20070216 RGD DNA:missense mutations 621830 Gjb6 gap junction protein, beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532 621830 Gjb6 gap junction protein, beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532|PMID:31589614 621830 Gjb6 gap junction protein, beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 621830 Gjb6 gap junction protein, beta 6 gene DOID:224 transient cerebral ischemia IEP D RGD:6480433|PMID:21718970 20130926 RGD protein:increased expression:hippocampus: 621830 Gjb6 gap junction protein, beta 6 gene DOID:5154 borna disease IEP D RGD:7364785|PMID:18538309 20130927 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:5199 ureteral obstruction IEP D RGD:7207847|PMID:12644912 20130927 RGD mRNA:increased expression:kidney: 621830 Gjb6 gap junction protein, beta 6 gene DOID:630 genetic disease ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18717672|PMID:28492532 621830 Gjb6 gap junction protein, beta 6 gene DOID:9004538 Hearing Loss ISO RGD:1349249 D RGD:7364893|PMID:19173109 20131008 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:9004538 Hearing Loss ISO RGD:1349249 D RGD:7364895|PMID:20858605 20131008 RGD p.T5M(human) 621830 Gjb6 gap junction protein, beta 6 gene DOID:9004538 Hearing Loss ISO RGD:1349249 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 621830 Gjb6 gap junction protein, beta 6 gene DOID:9004538 Hearing Loss ISO RGD:551751 D RGD:7364899|PMID:12490528 20131008 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:9004756 Brain Hypoxia IEP D RGD:7364784|PMID:20034754 20130927 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7364783|PMID:21567444 20130927 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:7364803|PMID:23554706 20130930 RGD DNA:mutations:multiple: 621830 Gjb6 gap junction protein, beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:7364812|PMID:20022641 20131001 RGD DNA:del:cds:del(GJB6-D13S1830) 621830 Gjb6 gap junction protein, beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:7364817|PMID:23668481 20131001 RGD DNA:del::GJB6-D13S1854(human) 621830 Gjb6 gap junction protein, beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1349249 D RGD:7364891|PMID:22186156 20131008 RGD 621830 Gjb6 gap junction protein, beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1349249 D RGD:7364892|PMID:21227513 20131008 RGD 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:10534 stomach cancer disease_progression ISO RGD:1346993 D RGD:14390158|PMID:24752577 20190221 RGD 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:14654 prostatitis ISO RGD:1346993 D RGD:14390161|PMID:27243216 20190222 RGD associated with prostatic hypertrophy;mRNA,protein:decreased expression:prostate: 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:1712 aortic valve stenosis ISO RGD:1346993 D RGD:14390160|PMID:23168040 20190222 RGD protein:increased expression:myocardium: 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1346993 D RGD:14390164|PMID:27549738 20190222 RGD mRNA:increased expression:CD4+ T : 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346993 D RGD:14390157|PMID:20716422 20190221 RGD mRNA,protein:increased expression:lung: 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1346993 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:6000 congestive heart failure ISO RGD:1346993 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:630 genetic disease ISO RGD:1346993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:14390163|PMID:28035406 20190222 RGD mRNA,protein:decreased expression:spinal cord: 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346993 D RGD:14390158|PMID:24752577 20190221 RGD associated with stomach cancer; protein:increased expression: : 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9003936 Cardiomegaly ISO RGD:1346993 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:736709 D RGD:14390160|PMID:23168040 20190222 RGD protein:increased expression:myocardium: 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9256 colorectal cancer ISO RGD:1346993 D RGD:14390156|PMID:29085481 20190221 RGD 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346993 D RGD:14390154|PMID:18756595 20190221 RGD 621831 Bambi BMP and activin membrane-bound inhibitor gene DOID:9970 obesity ISO RGD:736709 D RGD:14390162|PMID:22187378 20190222 RGD mRNA:decreased expression:adipose tissue 621832 Plpp1 phospholipid phosphatase 1 gene DOID:630 genetic disease ISO RGD:1344834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621832 Plpp1 phospholipid phosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621832 Plpp1 phospholipid phosphatase 1 gene DOID:9000918 Disease Progression ISO RGD:1344834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621832 Plpp1 phospholipid phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344834 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350405 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1350405 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350405 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1350405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1350405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350405 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621833 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350405 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621834 Cyb5r4 cytochrome b5 reductase 4 gene DOID:630 genetic disease ISO RGD:733318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621834 Cyb5r4 cytochrome b5 reductase 4 gene DOID:9351 diabetes mellitus ISO RGD:1622875 D RGD:2315644|PMID:15247412 20100107 RGD 621834 Cyb5r4 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733318 D RGD:2315647|PMID:15504981 20100107 RGD DNA:deletion:intron:IVSV+7TC (human) 621834 Cyb5r4 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISS RGD:1622875 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 621835 Idi1 isopentenyl-diphosphate delta isomerase 1 gene DOID:630 genetic disease ISO RGD:735459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621836 Slc38a4 solute carrier family 38, member 4 gene DOID:630 genetic disease ISO RGD:1347009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621837 Lyst lysosomal trafficking regulator gene DOID:0050117 disease by infectious agent ISO RGD:1604070 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Recurrent infections 621837 Lyst lysosomal trafficking regulator gene DOID:0050952 spastic ataxia ISO RGD:1604070 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 621837 Lyst lysosomal trafficking regulator gene DOID:0081013 severe COVID-19 ISO RGD:1604070 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 621837 Lyst lysosomal trafficking regulator gene DOID:13641 exfoliation syndrome ISS RGD:731450 D RGD:13592920 20180518 MouseDO OMIM:177650 621837 Lyst lysosomal trafficking regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1604070 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621837 Lyst lysosomal trafficking regulator gene DOID:1826 epilepsy ISO RGD:1604070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 621837 Lyst lysosomal trafficking regulator gene DOID:1891 optic nerve disease ISO RGD:1604070 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:25741868|PMID:28492532 621837 Lyst lysosomal trafficking regulator gene DOID:2213 hemorrhagic disease ISO RGD:1604070 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 621837 Lyst lysosomal trafficking regulator gene DOID:2223 platelet storage pool deficiency ISS RGD:731450 D RGD:13592920 20180518 MouseDO OMIM:185050 621837 Lyst lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome IAGP D RGD:633300|PMID:10384041 19990101 RGD 621837 Lyst lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:7240710 20130221 OMIM 621837 Lyst lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10482950|PMID:10648412|PMID:11857544|PMID:15896657|PMID:16199547|PMID:17554367|PMID:17576681|PMID:18485661|PMID:20301751|PMID:21878672|PMID:22883044|PMID:23436631|PMID:24033266|PMID:24072239|PMID:24112114|PMID:25047945|PMID:25312756|PMID:25640679|PMID:25741868|PMID:26193622|PMID:26597256|PMID:26684649|PMID:26915675|PMID:27669550|PMID:27781387|PMID:27872624|PMID:28145517|PMID:28193763|PMID:28458669|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30383631|PMID:30815890|PMID:30819905|PMID:30899265|PMID:31245861|PMID:31906877|PMID:32099069|PMID:32531373|PMID:32542393|PMID:32638196|PMID:33217554|PMID:34083498|PMID:8717042|PMID:8751863|PMID:8896560|PMID:9215679|PMID:9215680|PMID:9536098 621837 Lyst lysosomal trafficking regulator gene DOID:630 genetic disease ISO RGD:1604070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11857544|PMID:17576681|PMID:18485661|PMID:25741868|PMID:26684649|PMID:27872624|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30819905|PMID:32099069|PMID:9215679|PMID:9536098 621837 Lyst lysosomal trafficking regulator gene DOID:9001488 Human Influenza ISO RGD:1604070 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 621837 Lyst lysosomal trafficking regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604070 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621838 Laptm5 lysosomal protein transmembrane 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 621838 Laptm5 lysosomal protein transmembrane 5 gene DOID:630 genetic disease ISO RGD:1354375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621838 Laptm5 lysosomal protein transmembrane 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:734076 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:25741868|PMID:26467025|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:734076 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:734076 D RGD:151347643|PMID:32567205 20220812 RGD protein:decreased expression:colorectum (human) 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:734076 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual disability 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:15322521|PMID:15766587|PMID:19966286|PMID:25032700|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26467025|PMID:26648449|PMID:26811195|PMID:27435373|PMID:28125075|PMID:28492532|PMID:29120461|PMID:30680046|PMID:30827058|PMID:33144657|PMID:33193653|PMID:33332384 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1612 breast cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23376243|PMID:24033266|PMID:24123366|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27535533|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1924 hypogonadism ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:219 colon cancer ISO RGD:734076 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:26467025|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:734076 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12376507|PMID:17145065|PMID:25741868|PMID:26467025|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:33442399|REF_RGD_ID:153323317 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:4606 bile duct cancer ISO RGD:734076 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:734076 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:811 lipodystrophy ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9000066 Jaw Abnormalities ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome ISO RGD:734076 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome ISO RGD:734076 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome PMID:17576681|PMID:23770608|PMID:24033266|PMID:25583476|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31780696|PMID:32885271|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome susceptibility ISO RGD:734076 D RGD:7240710 20230505 OMIM 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:734076 D RGD:153323316|PMID:28924235 20220812 RGD associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28166811|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007653 Multiple Abnormalities ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:151347647|PMID:30086056 20220812 RGD DNA:nonsense mutation, missense mutation:CDS:p.195*, p.V759I (human) 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9008681 Deafness ISO RGD:734076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q | ClinVar Annotator: match by term: Colorectal cancer 10 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 PMID:10074927|PMID:10541966|PMID:12376507|PMID:14767555|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17121822|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19718023|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21258395|PMID:21636617|PMID:23065663|PMID:23245697|PMID:23263490|PMID:23283971|PMID:23376243|PMID:23447401|PMID:23528559|PMID:23770608|PMID:24033266|PMID:24123366|PMID:24501277|PMID:24861832|PMID:25032700|PMID:25131834|PMID:25202305|PMID:25217194|PMID:25228659|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25625332|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25827231|PMID:25938944|PMID:26133394|PMID:26172944|PMID:26206375|PMID:26344056|PMID:26438511|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27320729|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28202063|PMID:28306219|PMID:28368425|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28717660|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29406563|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30093976|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:31629014|PMID:31750734|PMID:31780696|PMID:31866764|PMID:31944473|PMID:32255556|PMID:32265515|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 susceptibility ISO RGD:734076 D RGD:7240710 20190502 OMIM 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30827058|PMID:31285513|PMID:31449058 621839 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:33193653|PMID:33332384 621840 Rheb Ras homolog, mTORC1 binding gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 621840 Rheb Ras homolog, mTORC1 binding gene DOID:1826 epilepsy ISO RGD:1353122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 621840 Rheb Ras homolog, mTORC1 binding gene DOID:2671 transitional cell carcinoma ISO RGD:1353122 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 621840 Rheb Ras homolog, mTORC1 binding gene DOID:2843 long QT syndrome ISO RGD:1353122 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 621840 Rheb Ras homolog, mTORC1 binding gene DOID:363 uterine cancer ISO RGD:1353122 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 621840 Rheb Ras homolog, mTORC1 binding gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20554106 621840 Rheb Ras homolog, mTORC1 binding gene DOID:4450 renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 621840 Rheb Ras homolog, mTORC1 binding gene DOID:4465 papillary renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 621840 Rheb Ras homolog, mTORC1 binding gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 621840 Rheb Ras homolog, mTORC1 binding gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1353122 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 621840 Rheb Ras homolog, mTORC1 binding gene DOID:9008237 Hemimegalencephaly ISO RGD:1353122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:30414531 621841 Hopx HOP homeobox gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1603377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 621841 Hopx HOP homeobox gene DOID:630 genetic disease ISO RGD:1603377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621841 Hopx HOP homeobox gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603377 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621842 F11r F11 receptor gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 621842 F11r F11 receptor gene DOID:10763 hypertension IEP D RGD:7488939|PMID:17420334 20131206 RGD 621842 F11r F11 receptor gene DOID:10763 hypertension susceptibility ISO RGD:1348345 D RGD:7488938|PMID:18067551 20131206 RGD DNA:SNPs: :rs790056, rs2774276 (human) 621842 F11r F11 receptor gene DOID:13976 peptic esophagitis treatment IEP D RGD:7488941|PMID:19478094 20131206 RGD 621842 F11r F11 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1348345 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621842 F11r F11 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:1348345 D RGD:7488915|PMID:19533747 20131205 RGD 621842 F11r F11 receptor gene DOID:1936 atherosclerosis ISO RGD:1553576 D RGD:7488921|PMID:15681301 20131205 RGD mRNA:increased expression:carotid artery 621842 F11r F11 receptor gene DOID:224 transient cerebral ischemia treatment IEP D RGD:7488943|PMID:22868201 20131206 RGD 621842 F11r F11 receptor gene DOID:2773 contact dermatitis ISO RGD:1553576 D RGD:7488917|PMID:15343392 20131205 RGD 621842 F11r F11 receptor gene DOID:418 systemic scleroderma ISO RGD:1348345 D RGD:7488918|PMID:19153103 20131205 RGD 621842 F11r F11 receptor gene DOID:630 genetic disease ISO RGD:1348345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621842 F11r F11 receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553576 D RGD:7488916|PMID:21695058 20131205 RGD 621842 F11r F11 receptor gene DOID:9000564 Prehypertension IEP D RGD:7488939|PMID:17420334 20131206 RGD 621842 F11r F11 receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348345 D RGD:7488922|PMID:22120722 20131205 RGD 621842 F11r F11 receptor gene DOID:9005372 Inflammation IEP D RGD:7488934|PMID:17007822 20131206 RGD 621842 F11r F11 receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7488940|PMID:18506084 20131206 RGD 621842 F11r F11 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348345 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621843 St8sia2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1351358 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 621843 St8sia2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621844 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1345623 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 621844 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1345623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621844 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:9005126 Malonic Aciduria ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 621844 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621845 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621845 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1603321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621845 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603321 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621845 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 621846 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:0050770 polycystic liver disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 621846 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:1059 intellectual disability ISO RGD:1353433 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621846 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:630 genetic disease ISO RGD:1353433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621846 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 621846 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 621846 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353433 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 621847 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345361 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 621847 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345361 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 621847 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1345361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621849 Isl2 ISL LIM homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:732662 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 621849 Isl2 ISL LIM homeobox 2 gene DOID:5419 schizophrenia ISO RGD:732662 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 621849 Isl2 ISL LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:732662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621849 Isl2 ISL LIM homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:732662 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 621850 Zc3h14 zinc finger CCCH type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:7240710 20190315 OMIM 621850 Zc3h14 zinc finger CCCH type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 PMID:21734151|PMID:25741868|PMID:28492532 621850 Zc3h14 zinc finger CCCH type containing 14 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 621850 Zc3h14 zinc finger CCCH type containing 14 gene DOID:1059 intellectual disability ISO RGD:732811 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 621850 Zc3h14 zinc finger CCCH type containing 14 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732811 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 621850 Zc3h14 zinc finger CCCH type containing 14 gene DOID:630 genetic disease ISO RGD:732811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0050700 cardiomyopathy ISO RGD:733051 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:733051 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:733051 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:7240710 20130221 OMIM 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:737736|PMID:10952871 19990101 RGD DNA:nonsense mutation:exon:p.E180X (human) 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5 ISO RGD:733051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:10952871|PMID:12732643|PMID:15665378|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301465|PMID:24033266|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:26467025|PMID:27429059|PMID:27790152|PMID:28492532|PMID:29178646|PMID:9536098 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:733051 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:12930 dilated cardiomyopathy ISO RGD:733051 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:3191 nemaline myopathy ISO RGD:733051 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733051 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:397 restrictive cardiomyopathy ISO RGD:733051 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:423 myopathy ISO RGD:733051 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myopathy 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:630 genetic disease ISO RGD:733051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10952871|PMID:12732643|PMID:17576681|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:27790152|PMID:28492532|PMID:9536098 621852 Tnnt1 troponin T1, slow skeletal type gene DOID:9562 primary ciliary dyskinesia ISO RGD:733051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351001 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:630 genetic disease ISO RGD:1351001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621854 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351001 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:7240710 20190315 OMIM 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:18414213|PMID:25741868|PMID:26467025|PMID:27932480|PMID:28492532|PMID:30986657 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:10283 prostate cancer ISO RGD:735850 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:2030 anxiety disorder ISO RGD:735850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735850 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:735850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:735850 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 621855 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9008023 Memory Disorders ISO RGD:735850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 621856 Rnf38 ring finger protein 38 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 621856 Rnf38 ring finger protein 38 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:737292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 621856 Rnf38 ring finger protein 38 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 621856 Rnf38 ring finger protein 38 gene DOID:630 genetic disease ISO RGD:737292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621856 Rnf38 ring finger protein 38 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 621856 Rnf38 ring finger protein 38 gene DOID:9870 galactosemia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 621857 Oxr1 oxidation resistance 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:736990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31785787 621857 Oxr1 oxidation resistance 1 gene DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ISO RGD:736990 D RGD:7240710 20200325 OMIM 621857 Oxr1 oxidation resistance 1 gene DOID:1826 epilepsy ISO RGD:736990 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31785787 621857 Oxr1 oxidation resistance 1 gene DOID:630 genetic disease ISO RGD:736990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621857 Oxr1 oxidation resistance 1 gene DOID:9004538 Hearing Loss ISO RGD:736990 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:0060001 withdrawal disorder treatment IDA D RGD:13514096|PMID:25604667 20180328 RGD associated with Morphine Dependence 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:12858 Huntington's disease IEP D RGD:13515080|PMID:18502785 20180402 RGD 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:1596 depressive disorder treatment IDA D RGD:13514054|PMID:27457507 20180327 RGD 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:1824 status epilepticus IDA D RGD:13515071|PMID:25219249 20180402 RGD protein:increased phosphorylation:brain 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:3312 bipolar disorder ISO RGD:1347073 D RGD:13515076|PMID:23295814 20180402 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:3454 brain infarction IEP D RGD:155630606|PMID:12161747 20221025 RGD protein:altered expression:brain (rat) 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:5419 schizophrenia IDA D RGD:13515078|PMID:22820052 20180402 RGD protein:increased threonine phosphorylation:nucleus accumbens 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:5419 schizophrenia ISO RGD:1347073 D RGD:13515076|PMID:23295814 20180402 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:630 genetic disease ISO RGD:1347073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:9003104 Intracranial Hemorrhages IEP D RGD:13515075|PMID:23543809 20180402 RGD 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:13515077|PMID:23153068 20180402 RGD 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:9003805 Catalepsy ISO RGD:1347073 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20682746 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:9008394 Drug-Induced Dyskinesia treatment IDA D RGD:13514053|PMID:27771532 20180327 RGD associated with Parkinsonian Disorders 621859 Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B gene DOID:9008675 Dyskinesias ISO RGD:1347073 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20682746 621861 Angpt2 angiopoietin 2 gene DOID:0001816 angiosarcoma ISO RGD:730844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 621861 Angpt2 angiopoietin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730844 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 621861 Angpt2 angiopoietin 2 gene DOID:0050876 Caroli disease IEP D RGD:2314213|PMID:16628643 20091105 RGD protein:increased expression:bile duct (rat) 621861 Angpt2 angiopoietin 2 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 621861 Angpt2 angiopoietin 2 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 621861 Angpt2 angiopoietin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730844 D RGD:32716385|PMID:32458111 20200626 RGD protein:increased expression:plasma (human) 621861 Angpt2 angiopoietin 2 gene DOID:1059 intellectual disability ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 621861 Angpt2 angiopoietin 2 gene DOID:10762 portal hypertension IDA D RGD:2314171|PMID:19070926 20091104 RGD 621861 Angpt2 angiopoietin 2 gene DOID:10808 gastric ulcer IEP D RGD:1601496|PMID:12768384 20091109 RGD protein:increased expression:stomach (rat) 621861 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity IEP D RGD:2314205|PMID:17692314 20091105 RGD protein:increased expression:retina (rat) 621861 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:1550503 D RGD:2314207|PMID:17065527 20091105 RGD mRNA:increased expression:retina (mouse) 621861 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity susceptibility IDA D RGD:2314205|PMID:17692314 20091105 RGD 621861 Angpt2 angiopoietin 2 gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:2314213|PMID:16628643 20091105 RGD mRNA, protein:increased expression:glomerulus (rat) 621861 Angpt2 angiopoietin 2 gene DOID:2316 brain ischemia IDA D RGD:2314206|PMID:17494864 20091105 RGD 621861 Angpt2 angiopoietin 2 gene DOID:2527 nephrosis IDA D RGD:2314177|PMID:18929866 20091104 RGD 621861 Angpt2 angiopoietin 2 gene DOID:2527 nephrosis IEP D RGD:2314178|PMID:18929864 20091104 RGD mRNA:increased expression:kidney (rat) 621861 Angpt2 angiopoietin 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:730844 D RGD:2293853|PMID:15705099 20080616 RGD 621861 Angpt2 angiopoietin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:730844 D RGD:2293852|PMID:17295646 20080616 RGD protein:increased expression:endometrium epithelium 621861 Angpt2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis IDA D RGD:2314222|PMID:16014048 20091106 RGD 621861 Angpt2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:2314193|PMID:18272601 20091104 RGD protein:increased expression:glomerulus (rat) 621861 Angpt2 angiopoietin 2 gene DOID:299 adenocarcinoma IEP D RGD:2314294|PMID:10373119 20091110 RGD protein:increased expression:cerebrum, blood vessels (rat) 621861 Angpt2 angiopoietin 2 gene DOID:3070 high grade glioma IEP D RGD:2314189|PMID:18615861 20091104 RGD protein:increased expression:brain (rat) 621861 Angpt2 angiopoietin 2 gene DOID:3247 rhabdomyosarcoma IEP D RGD:2314204|PMID:17849463 20091105 RGD protein:increased expression:blood vessel (rat) 621861 Angpt2 angiopoietin 2 gene DOID:326 ischemia IDA D RGD:2313934|PMID:19672036 20091028 RGD 621861 Angpt2 angiopoietin 2 gene DOID:4676 uremia IDA D RGD:2314180|PMID:18751736 20091104 RGD 621861 Angpt2 angiopoietin 2 gene DOID:4676 uremia IEP D RGD:2314180|PMID:18751736 20091104 RGD mRNA:increased expression:omentum (rat) 621861 Angpt2 angiopoietin 2 gene DOID:4762 vasculogenic impotence IEP D RGD:2314210|PMID:16750245 20091105 RGD associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat) 621861 Angpt2 angiopoietin 2 gene DOID:5844 myocardial infarction IEP D RGD:1601493|PMID:16714360 20091105 RGD protein:increased expression:left ventricular wall, heart septum (rat) 621861 Angpt2 angiopoietin 2 gene DOID:630 genetic disease ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 621861 Angpt2 angiopoietin 2 gene DOID:6432 pulmonary hypertension IEP D RGD:2314185|PMID:19712575 20091104 RGD protein:increased expression:pulmonary artery (rat) 621861 Angpt2 angiopoietin 2 gene DOID:8947 diabetic retinopathy IDA D RGD:2314216|PMID:16520919 20091105 RGD 621861 Angpt2 angiopoietin 2 gene DOID:8947 diabetic retinopathy IEP D RGD:2314216|PMID:16520919 20091105 RGD protein:increased expression:retina (rat) 621861 Angpt2 angiopoietin 2 gene DOID:898 autosomal dominant polycystic kidney disease IEP D RGD:2314213|PMID:16628643 20091105 RGD protein:increased expression:bile duct (rat) 621861 Angpt2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:7240710 20210616 OMIM 621861 Angpt2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 621861 Angpt2 angiopoietin 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730844 D RGD:2313816|PMID:15209761 20091016 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma 621861 Angpt2 angiopoietin 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:730844 D RGD:15014784|PMID:24959006 20191108 RGD 621861 Angpt2 angiopoietin 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2314174|PMID:18978178 20091104 RGD mRNA, protein:increased expression:multiple organs (rat) 621861 Angpt2 angiopoietin 2 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:2314184|PMID:18692629 20091104 RGD mRNA:increased expression:lung (rat) 621861 Angpt2 angiopoietin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313817|PMID:15047628 20091016 RGD protein:increased expression:retina 621861 Angpt2 angiopoietin 2 gene DOID:9005749 Necrosis IEP D RGD:2314239|PMID:15135347 20091106 RGD mRNA:increased expression:liver, stellate cell, macrophage (rat) 621861 Angpt2 angiopoietin 2 gene DOID:9007096 Stroke IEP D RGD:1626166|PMID:15637314 20091106 RGD mRNA:increased expression:brain (rat) 621861 Angpt2 angiopoietin 2 gene DOID:9007661 Dwarfism ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 621861 Angpt2 angiopoietin 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1601505|PMID:12737621 20091109 RGD mRNA, protein:increased expression:myocardium (rat) 621861 Angpt2 angiopoietin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730844 D RGD:2313815|PMID:15823283 20091016 RGD protein:increased expression:plasma 621862 Atf2 activating transcription factor 2 gene DOID:0050702 neonatal period electroclinical syndrome ISO RGD:12390251 D RGD:9068941 20220630 OMIA Neonatal encephalopathy with seizures PMID:18074159|PMID:33244473 621862 Atf2 activating transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732287 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 621862 Atf2 activating transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:732287 D RGD:10047399|PMID:9138733 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:732287 D RGD:10047400|PMID:15878807 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:10763 hypertension IDA D RGD:10047414|PMID:11358932 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:11049 meconium aspiration syndrome ISS RGD:736761 D RGD:13592920 20180518 MouseDO 621862 Atf2 activating transcription factor 2 gene DOID:11870 Pick's disease ISO RGD:732287 D RGD:10047401|PMID:16496165 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:732287 D RGD:10047400|PMID:15878807 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732287 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 621862 Atf2 activating transcription factor 2 gene DOID:1686 glaucoma IEP D RGD:10047416|PMID:17586494 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:224 transient cerebral ischemia IDA D RGD:10047405|PMID:10077326 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:224 transient cerebral ischemia IEP D RGD:10047413|PMID:9813301 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:2256 osteochondrodysplasia ISS RGD:736761 D RGD:13592920 20180518 MouseDO OMIM:215050 621862 Atf2 activating transcription factor 2 gene DOID:5419 schizophrenia ISO RGD:732287 D RGD:10047412|PMID:10891039 20150713 RGD protein:increased expression:cerebellar vermis 621862 Atf2 activating transcription factor 2 gene DOID:630 genetic disease ISO RGD:732287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621862 Atf2 activating transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:732287 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 621862 Atf2 activating transcription factor 2 gene DOID:9004001 Facial Nerve Injuries IEP D RGD:10047413|PMID:9813301 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:9005930 Endotoxemia IEP D RGD:5135029|PMID:21641970 20120322 RGD protein:increased expression, increased activity:small intestine mucosa 621862 Atf2 activating transcription factor 2 gene DOID:9005930 Endotoxemia treatment IDA D RGD:10047418|PMID:24312512 20150713 RGD 621862 Atf2 activating transcription factor 2 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:10047417|PMID:10366744 20150713 RGD 621863 Atf4 activating transcription factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 621863 Atf4 activating transcription factor 4 gene DOID:0060478 Zika fever ISO RGD:733713 D RGD:32733625|PMID:30241539 20200701 RGD mRNA:increased expression:brain 621863 Atf4 activating transcription factor 4 gene DOID:10286 prostate carcinoma treatment ISO RGD:733712 D RGD:13504680|PMID:25680860 20180116 RGD 621863 Atf4 activating transcription factor 4 gene DOID:11132 prostatic hypertrophy ISO RGD:733713 D RGD:13504679|PMID:28988820 20180116 RGD 621863 Atf4 activating transcription factor 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:733712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 621863 Atf4 activating transcription factor 4 gene DOID:5154 borna disease IEP D RGD:32733622|PMID:16912310 20200701 RGD protein:increased expression:cerebellum 621863 Atf4 activating transcription factor 4 gene DOID:5453 pulmonary venoocclusive disease IEP D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung 621863 Atf4 activating transcription factor 4 gene DOID:630 genetic disease ISO RGD:733712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621863 Atf4 activating transcription factor 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733712 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 621863 Atf4 activating transcription factor 4 gene DOID:9002669 Hypoxia ISO RGD:733712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 621863 Atf4 activating transcription factor 4 gene DOID:9005749 Necrosis ISO RGD:733712 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 621863 Atf4 activating transcription factor 4 gene DOID:9452 fatty liver disease ISO RGD:733712 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 621864 Gbx1 gastrulation brain homeobox 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 621864 Gbx1 gastrulation brain homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1352199 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 621864 Gbx1 gastrulation brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1352199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621865 Kalrn kalirin, RhoGEF kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 621865 Kalrn kalirin, RhoGEF kinase gene DOID:630 genetic disease ISO RGD:1601887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621865 Kalrn kalirin, RhoGEF kinase gene DOID:9000528 Coronary Disease ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 5 PMID:17357071|PMID:25741868 621865 Kalrn kalirin, RhoGEF kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 621865 Kalrn kalirin, RhoGEF kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601887 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 621865 Kalrn kalirin, RhoGEF kinase gene DOID:9270 alkaptonuria ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 621866 Gbx2 gastrulation brain homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348762 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 621866 Gbx2 gastrulation brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1348762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621866 Gbx2 gastrulation brain homeobox 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 621867 Ccn5 cellular communication network factor 5 gene DOID:2234 focal epilepsy ISO RGD:1351496 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 621867 Ccn5 cellular communication network factor 5 gene DOID:630 genetic disease ISO RGD:1351496 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621867 Ccn5 cellular communication network factor 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 621868 Cep170 centrosomal protein 170 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605104 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 621868 Cep170 centrosomal protein 170 gene DOID:1540 parathyroid carcinoma ISO RGD:1605104 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 621868 Cep170 centrosomal protein 170 gene DOID:630 genetic disease ISO RGD:1605104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621868 Cep170 centrosomal protein 170 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1605104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 621868 Cep170 centrosomal protein 170 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:22190896|PMID:28492532 621868 Cep170 centrosomal protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605104 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 621868 Cep170 centrosomal protein 170 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605104 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:10603 glucose intolerance ISO RGD:1351216 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27381457 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:3021 acute kidney failure ISO RGD:1351216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21745194 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22363678 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:6000 congestive heart failure ISO RGD:1351216 D RGD:9835356|PMID:18323524 20150319 RGD mRNA, protein:increased expression:left ventricle myocardium (human) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1351216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1351216 D RGD:9835361|PMID:15274052 20150319 RGD DNA:snps:introns: (rs2072115), (rs2074533) (human) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9002056 Arterial Injury IEP D RGD:9835375|PMID:18689492 20150320 RGD mRNA:increased expression:femoral artery (rat) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9002098 Tick-Borne Diseases ISO RGD:1351216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly IEP D RGD:9835356|PMID:18323524 20150319 RGD protein:increased expression:left ventricle myocardium (rat) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly susceptibility ISO RGD:732974 D RGD:9850089|PMID:25411381 20150326 RGD 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9004283 Transplant Rejection treatment IDA D RGD:9835362|PMID:18178058 20150319 RGD 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1351216 D RGD:9835389|PMID:25372777 20150323 RGD protein:altered expression:thyroid gland (human) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732974 D RGD:9835365|PMID:24721545 20150319 RGD protein:increased expression:heart (mouse) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9007347 Rickettsia Infections ISO RGD:1351216 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9007730 Burns treatment IDA D RGD:9850087|PMID:24973766 20150326 RGD 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9120 amyloidosis ISO RGD:732974 D RGD:9835365|PMID:24721545 20150319 RGD protein:increased expression:heart (mouse) 621869 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9970 obesity ISO RGD:1351216 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 621870 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma PMID:29417556 621870 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349188 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 621870 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:630 genetic disease ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621870 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9001488 Human Influenza ISO RGD:1349188 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 621870 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621870 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:1349188 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:0050700 cardiomyopathy ISO RGD:1343025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14568902 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:0080855 Parkinsonism IEP D RGD:2302296|PMID:17148469 20081210 RGD mRNA:decreased expression:thalamus 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:11069477|PMID:11175301|PMID:127819|PMID:20301595|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8572257|PMID:9450881|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1343025 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111751 mitochondrial nonsyndromic sensorineural deafness ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial PMID:10577941|PMID:11069477|PMID:11175301|PMID:127819|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:18639500|PMID:20301595|PMID:25741868|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8060346|PMID:8240356|PMID:8572257|PMID:8680405|PMID:9450881|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:0111752 autosomal-mitochondrial sensorineural deafness ISO RGD:1343025 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:12930 dilated cardiomyopathy ISO RGD:1343025 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:14791 Leber congenital amaurosis ISO RGD:1343025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:305 carcinoma ISO RGD:1343025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:3652 Leigh disease ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10577941|PMID:11349229|PMID:12140182|PMID:1322638|PMID:13298683|PMID:15647368|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:19460299|PMID:20301595|PMID:21419139|PMID:22130971|PMID:22949535|PMID:24498190|PMID:24713204|PMID:25701779|PMID:25741868|PMID:26011537|PMID:26428318|PMID:26467025|PMID:30950284|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104|PMID:9806551|PMID:9832034 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:3687 MELAS syndrome ISO RGD:1343025 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:3687 MELAS syndrome ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes PMID:11069477|PMID:11175301|PMID:127819|PMID:20301595|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8572257|PMID:9450881|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome c oxidase I deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10441567|PMID:12140182|PMID:16284789|PMID:9832034 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:539 ophthalmoplegia ISO RGD:1343025 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: External ophthalmoplegia 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:5723 optic atrophy ISO RGD:1343025 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:28027978 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:6419 tetralogy of Fallot ISO RGD:1343025 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:684 hepatocellular carcinoma IAGP D RGD:2302301|PMID:2548155 20081210 RGD 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:700 mitochondrial metabolism disease ISO RGD:1343025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:11069477|PMID:11175301|PMID:127819|PMID:20301595|PMID:31965079|PMID:32906214|PMID:6213205|PMID:7219534|PMID:7987332|PMID:8019558|PMID:8572257|PMID:9450881|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1343025 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Leber's optic atrophy PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:8955 sideroblastic anemia ISO RGD:1343025 D RGD:8554872 20161115 ClinVar ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia PMID:9389715 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9000040 Hypertrophy ISO RGD:1343025 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20582486 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1343025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10577941|PMID:1322638|PMID:16152638|PMID:1634041|PMID:1732158|PMID:17659260|PMID:20301595|PMID:25741868|PMID:8060346|PMID:8240356|PMID:8680405|PMID:9742104 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343025 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1343025 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9008091 Optic Nerve Injuries ISO RGD:736621 D RGD:8662362|PMID:12076086 20140620 RGD mRNA:increased expression:retina 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9008229 Recurrent Myoglobinuria ISO RGD:1343025 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myoglobinuria, recurrent PMID:10980727 621871 Mt-co1 mitochondrially encoded cytochrome c oxidase I gene DOID:9256 colorectal cancer ISO RGD:1343025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:16407113|PMID:19218458|PMID:9806551 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:127284843|PMID:29229353 20210609 RGD 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:10534 stomach cancer ISO RGD:1605433 D RGD:126908003|PMID:31396300 20210524 RGD human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (mouse) 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:12858 Huntington's disease severity ISO RGD:1605433 D RGD:13506651|PMID:20660112 20180206 RGD 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:12930 dilated cardiomyopathy ISO RGD:1605433 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:1596 depressive disorder ISO RGD:736071 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased expression:blood serum, hippocampus (mouse) 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:3526 cerebral infarction ISO RGD:1605433 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Ischemic stroke 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:3652 Leigh disease ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11799391|PMID:12612282|PMID:17637808|PMID:18337306|PMID:19398658|PMID:22241583|PMID:24931671|PMID:25741868|PMID:26467025|PMID:32313153 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:3687 MELAS syndrome ISO RGD:1605433 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1605433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10205264|PMID:10486321|PMID:11471180|PMID:11558799 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:6419 tetralogy of Fallot ISO RGD:1605433 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:700 mitochondrial metabolism disease ISO RGD:1605433 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:769 neuroblastoma ISO RGD:1605433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15492235 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1605433 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:32313153 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9000998 Brain Injuries IEP D RGD:2302298|PMID:11686499 20081210 RGD mRNA, protein:increased expression:hippocampus 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1605433 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1605433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT PMID:25741868 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9256 colorectal cancer ISO RGD:1605433 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:13298683|PMID:9806551 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2300410|PMID:14563825 20081210 RGD mRNA:decreased expression:soleus 621872 Mt-co2 mitochondrially encoded cytochrome c oxidase II gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:0050753 cerebellar ataxia ISO RGD:1350980 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:0060067 Pearson syndrome ISO RGD:1350980 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Pearson syndrome 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:12930 dilated cardiomyopathy ISO RGD:1350980 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088041|PMID:26633545 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1350980 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Kearns-Sayre syndrome PMID:20301382 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:1826 epilepsy ISO RGD:1350980 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28027978 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3328 temporal lobe epilepsy ISO RGD:1350980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17092649 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3650 lactic acidosis ISO RGD:1350980 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Seizures and lactic acidosis PMID:12915481|PMID:8739943 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3652 Leigh disease ISO RGD:1350980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11063732|PMID:15823923|PMID:16358358|PMID:17403843|PMID:18587274|PMID:20301353|PMID:23645088|PMID:25741868|PMID:30143805|PMID:7496173|PMID:7573056|PMID:7804416|PMID:8037217|PMID:8240356 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3687 MELAS syndrome ISO RGD:1350980 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3687 MELAS syndrome ISO RGD:1350980 D RGD:5491184|PMID:18587274 20110930 RGD DNA:mutation:exon:m.9957T>C (F251L)(human) 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3687 MELAS syndrome ISO RGD:1350980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25741868 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1350980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:11063732|PMID:12414820|PMID:25741868|PMID:8630495|PMID:9634511 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:585 nephrolithiasis ISO RGD:1350980 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:25741868 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:6419 tetralogy of Fallot ISO RGD:1350980 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:700 mitochondrial metabolism disease ISO RGD:1350980 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder PMID:12414820|PMID:12915481|PMID:20301382|PMID:8739943 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350980 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350980 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:12915481|PMID:20301353|PMID:25741868|PMID:28027978|PMID:30143805|PMID:7573056|PMID:7804416|PMID:8037217|PMID:8240356|PMID:8739943 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:9007344 Mitochondrial Complex IV Deficiency, Nuclear Type 1 ISO RGD:1350980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12414820|PMID:8630495 621873 Mt-co3 mitochondrially encoded cytochrome c oxidase III gene DOID:9007527 Mitochondrial Myopathy, Infantile, Transient ISO RGD:1350980 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient PMID:12414820 621874 Ndrg2 NDRG family member 2 gene DOID:224 transient cerebral ischemia ISO RGD:732058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23451161 621874 Ndrg2 NDRG family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:732058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 621874 Ndrg2 NDRG family member 2 gene DOID:630 genetic disease ISO RGD:732058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621874 Ndrg2 NDRG family member 2 gene DOID:83 cataract ISO RGD:732058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22043305 621874 Ndrg2 NDRG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 621874 Ndrg2 NDRG family member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732058 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 621874 Ndrg2 NDRG family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 621876 Syt12 synaptotagmin 12 gene DOID:1059 intellectual disability ISO RGD:737534 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621876 Syt12 synaptotagmin 12 gene DOID:630 genetic disease ISO RGD:737534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621876 Syt12 synaptotagmin 12 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 621876 Syt12 synaptotagmin 12 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 621877 Syt13 synaptotagmin 13 gene DOID:1059 intellectual disability ISO RGD:735243 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621877 Syt13 synaptotagmin 13 gene DOID:630 genetic disease ISO RGD:735243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621877 Syt13 synaptotagmin 13 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 621878 Podxl podocalyxin-like gene DOID:0060368 Parkinson's disease 2 ISO RGD:736843 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:26864383 621878 Podxl podocalyxin-like gene DOID:0060892 late onset Parkinson's disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:26864383|PMID:28492532 621878 Podxl podocalyxin-like gene DOID:0060903 thrombosis ISO RGD:736843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 621878 Podxl podocalyxin-like gene DOID:3407 carotid artery disease ISO RGD:736843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 621878 Podxl podocalyxin-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736843 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 621878 Podxl podocalyxin-like gene DOID:630 genetic disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621878 Podxl podocalyxin-like gene DOID:9002304 Prostatic Neoplasms ISO RGD:736843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16434482 621878 Podxl podocalyxin-like gene DOID:9008217 Hemorrhage ISO RGD:736843 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 621879 Ugdh UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:7240710 20200318 OMIM 621879 Ugdh UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84 PMID:25741868|PMID:32001716|PMID:32860008 621879 Ugdh UDP-glucose 6-dehydrogenase gene DOID:630 genetic disease ISO RGD:734073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621879 Ugdh UDP-glucose 6-dehydrogenase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:734073 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 621879 Ugdh UDP-glucose 6-dehydrogenase gene DOID:9001793 Generalized Epilepsy ISO RGD:734073 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32001716|PMID:32860008 621879 Ugdh UDP-glucose 6-dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:734073 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 621880 Pdgfd platelet derived growth factor D gene DOID:0080600 COVID-19 ISO RGD:1604286 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621880 Pdgfd platelet derived growth factor D gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1604286 D RGD:13506773|PMID:21098708 20180213 RGD 621880 Pdgfd platelet derived growth factor D gene DOID:1059 intellectual disability ISO RGD:1604286 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621880 Pdgfd platelet derived growth factor D gene DOID:11132 prostatic hypertrophy disease_progression ISO RGD:1604286 D RGD:13506770|PMID:22689130 20180212 RGD 621880 Pdgfd platelet derived growth factor D gene DOID:12704 ataxia telangiectasia ISO RGD:1604286 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 621880 Pdgfd platelet derived growth factor D gene DOID:1936 atherosclerosis ISO RGD:1604286 D RGD:155882464|PMID:33381146 20230123 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) 621880 Pdgfd platelet derived growth factor D gene DOID:2921 glomerulonephritis IMP D RGD:9854633|PMID:21866094 20150407 RGD 621880 Pdgfd platelet derived growth factor D gene DOID:3393 coronary artery disease ISO RGD:1604286 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328 621880 Pdgfd platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis IEP D RGD:9854637|PMID:12937299 20150407 RGD mRNA,protein:increased expression:glomerulus,serum: 621880 Pdgfd platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis treatment IMP D RGD:9854629|PMID:17308324 20150407 RGD 621880 Pdgfd platelet derived growth factor D gene DOID:5082 liver cirrhosis IEP D RGD:9854631|PMID:17397961 20150407 RGD mRNA,protein:increased expression:liver: 621880 Pdgfd platelet derived growth factor D gene DOID:5426 primary ovarian insufficiency ISO RGD:1604286 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 621880 Pdgfd platelet derived growth factor D gene DOID:5844 myocardial infarction IEP D RGD:9854703|PMID:21767547 20150408 RGD mRNA,protein:altered expression:myocardium: 621880 Pdgfd platelet derived growth factor D gene DOID:630 genetic disease ISO RGD:1604286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621880 Pdgfd platelet derived growth factor D gene DOID:9000310 Lung Injury ISO RGD:1604286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 621880 Pdgfd platelet derived growth factor D gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:1604286 D RGD:9854642|PMID:19213942 20150407 RGD 621880 Pdgfd platelet derived growth factor D gene DOID:9000784 Fibrosis ISO RGD:1604286 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 621880 Pdgfd platelet derived growth factor D gene DOID:9004283 Transplant Rejection IEP D RGD:9854642|PMID:19213942 20150407 RGD 621880 Pdgfd platelet derived growth factor D gene DOID:9005396 Intimal Hyperplasia IEP D RGD:9854640|PMID:15752751 20150407 RGD protein:increased expression:smooth muscle cell: 621880 Pdgfd platelet derived growth factor D gene DOID:9006182 Carotid Artery Injuries IEP D RGD:9854624|PMID:18258854 20150407 RGD protein:increased expression:carotid artery: 621880 Pdgfd platelet derived growth factor D gene DOID:9007482 Bone Metastasis ISO RGD:1604286 D RGD:13506772|PMID:22158043 20180213 RGD associated with prostate carcinoma 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:7240710 20141015 OMIM 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 46 PMID:18806796|PMID:25741868|PMID:28492532|PMID:31736247 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:10584 retinitis pigmentosa ISO RGD:1349945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806796 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:10584 retinitis pigmentosa ISO RGD:1349945 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1349945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1349945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621881 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000918 Disease Progression ISO RGD:1349945 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:0080600 COVID-19 ISO RGD:732465 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:7240710 20130221 OMIM 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:18424452|PMID:19454373|PMID:19597094|PMID:19847901|PMID:21670406|PMID:21796727|PMID:22032306|PMID:22767442|PMID:23225201|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732465 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:1826 epilepsy ISO RGD:732465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732465 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:630 genetic disease ISO RGD:732465 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18308289|PMID:19847901|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:21670406|PMID:22767442|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:891 progressive myoclonus epilepsy ISS RGD:732466 D RGD:13592920 20180518 MouseDO OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:732465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 621882 Scarb2 scavenger receptor class B, member 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732465 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:28492532|PMID:29358611 621883 Cnn1 calponin 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 621883 Cnn1 calponin 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 621883 Cnn1 calponin 1 gene DOID:0111254 glutaric acidemia I ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 621883 Cnn1 calponin 1 gene DOID:3413 alpha-mannosidosis ISO RGD:731921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 621883 Cnn1 calponin 1 gene DOID:630 genetic disease ISO RGD:731921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621884 Uts2r urotensin 2 receptor gene DOID:0050700 cardiomyopathy IEP D RGD:2306796|PMID:18280445 20090506 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium 621884 Uts2r urotensin 2 receptor gene DOID:10763 hypertension IDA D RGD:1580812|PMID:14621188 19990101 RGD 621884 Uts2r urotensin 2 receptor gene DOID:12932 endomyocardial fibrosis IMP D RGD:2306833|PMID:16919371 20090507 RGD 621884 Uts2r urotensin 2 receptor gene DOID:3021 acute kidney failure IMP D RGD:2306847|PMID:15146030 20090508 RGD 621884 Uts2r urotensin 2 receptor gene DOID:5844 myocardial infarction IEP D RGD:2306846|PMID:15549273 20090508 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle 621884 Uts2r urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2306786|PMID:18796544 20090506 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney 621884 Uts2r urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342744 D RGD:2306805|PMID:15492948 20090506 RGD mRNA:increased expression:kidney 621884 Uts2r urotensin 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2306839|PMID:16267137 20090508 RGD 621884 Uts2r urotensin 2 receptor gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:2306836|PMID:17900760 20090507 RGD 621884 Uts2r urotensin 2 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332177 D RGD:2306785|PMID:19323985 20090506 RGD mRNA:increased expression:skeletal muscle 621885 Psmc3ip PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:7240710 20140911 OMIM 621885 Psmc3ip PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:25741868|PMID:28492532|PMID:31042289 621885 Psmc3ip PSMC3 interacting protein gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:730859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 621885 Psmc3ip PSMC3 interacting protein gene DOID:630 genetic disease ISO RGD:730859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 621885 Psmc3ip PSMC3 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:730859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621886 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351048 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 621886 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:12849 autistic disorder ISO RGD:1351048 D RGD:9835387|PMID:14593429 20150323 RGD DNA:missense mutations:cds:multiple (human) 621886 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1351048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621886 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:9007730 Burns treatment IDA D RGD:9850087|PMID:24973766 20150326 RGD 621887 Nfkbib NFKB inhibitor beta gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621887 Nfkbib NFKB inhibitor beta gene DOID:630 genetic disease ISO RGD:732611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621887 Nfkbib NFKB inhibitor beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 621888 Prkch protein kinase C, eta gene DOID:303 substance-related disorder ISO RGD:735345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 621888 Prkch protein kinase C, eta gene DOID:3526 cerebral infarction ISO RGD:735345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral infarction, susceptibility to | ClinVar Annotator: match by term: Ischemic stroke PMID:12958323|PMID:17206144|PMID:25741868 621888 Prkch protein kinase C, eta gene DOID:3526 cerebral infarction susceptibility ISO RGD:735345 D RGD:7240710 20230505 OMIM 621888 Prkch protein kinase C, eta gene DOID:630 genetic disease ISO RGD:735345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 621888 Prkch protein kinase C, eta gene DOID:9970 obesity ISO RGD:735345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:0050427 xeroderma pigmentosum ISO RGD:734016 D RGD:7246919|PMID:22824526 20130626 RGD 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:734016 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:33743206 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:734016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:734016 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:14764 Larsen syndrome ISO RGD:734016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:25741868 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:734016 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33743206 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:734016 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:7240710 20210901 OMIM 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: White-Kernohan syndrome PMID:25741868|PMID:33743206 621889 Ddb1 damage-specific DNA binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734016 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 621890 Dag1 dystroglycan 1 gene DOID:0050453 lissencephaly ISS RGD:1552006 D RGD:13592920 20180518 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 621890 Dag1 dystroglycan 1 gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1344302 D RGD:11537476|PMID:11445638 20161005 RGD protein:decreased expression:brain, heart, skeletal muscle 621890 Dag1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1344302 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 621890 Dag1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1552006 D RGD:11537405|PMID:18923033 20161004 RGD 621890 Dag1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1552006 D RGD:11537406|PMID:24824861 20161004 RGD 621890 Dag1 dystroglycan 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:0060852 Pierson syndrome ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1344302 D RGD:11073211|PMID:15833425 20161005 RGD protein:increased degradation:skeletal muscle 621890 Dag1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:7240710 20140911 OMIM 621890 Dag1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:10875918|PMID:14678799|PMID:17576681|PMID:21388311|PMID:22237435|PMID:24033266|PMID:24052401|PMID:25503980|PMID:25671699|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29036200|PMID:29134705|PMID:29337005|PMID:30450679|PMID:30919572|PMID:31066050|PMID:31097590|PMID:9536098 621890 Dag1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:7240710 20170315 OMIM 621890 Dag1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:24033266|PMID:24052401|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29134705 621890 Dag1 dystroglycan 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1344302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:25741868|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344302 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 621890 Dag1 dystroglycan 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:1059 intellectual disability ISO RGD:1344302 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 621890 Dag1 dystroglycan 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344302 D RGD:11537474|PMID:17196572 20161005 RGD DNA:SNP: :p.N494H (human) 621890 Dag1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:11073211|PMID:15833425 20161005 RGD protein:increased degradation:skeletal muscle 621890 Dag1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:11537476|PMID:11445638 20161005 RGD protein:decreased expression:skeletal muscle 621890 Dag1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:11552581|PMID:7630355 20161011 RGD 621890 Dag1 dystroglycan 1 gene DOID:12236 primary biliary cholangitis IEP D RGD:2314895|PMID:12177244 20091207 RGD mRNA:increased expression:liver 621890 Dag1 dystroglycan 1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1552006 D RGD:13592920 20180518 MouseDO 621890 Dag1 dystroglycan 1 gene DOID:3429 inclusion body myositis ISO RGD:1344302 D RGD:11537409|PMID:14972325 20161004 RGD 621890 Dag1 dystroglycan 1 gene DOID:423 myopathy ISO RGD:1344302 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:5844 myocardial infarction treatment IDA D RGD:11541047|PMID:12034665 20161006 RGD 621890 Dag1 dystroglycan 1 gene DOID:630 genetic disease ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:767 muscular atrophy IEP D RGD:625642|PMID:12107060 20161006 RGD protein:decreased expression:gastrocnemius 621890 Dag1 dystroglycan 1 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:11541065|PMID:16254495 20161006 RGD 621890 Dag1 dystroglycan 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344302 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 621890 Dag1 dystroglycan 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2314895|PMID:12177244 20091207 RGD mRNA:increased expression:liver 621890 Dag1 dystroglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 621890 Dag1 dystroglycan 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:11541062|PMID:25545558 20161006 RGD 621890 Dag1 dystroglycan 1 gene DOID:9002955 Nerve Degeneration IEP D RGD:11537480|PMID:16228655 20161005 RGD 621890 Dag1 dystroglycan 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:11541061|PMID:21192954 20161006 RGD 621890 Dag1 dystroglycan 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1581689|PMID:16323284 20161005 RGD protein:decreased expression:skeletal muscle 621890 Dag1 dystroglycan 1 gene DOID:9537 Lassa fever ISO RGD:1344302 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17287727 621890 Dag1 dystroglycan 1 gene DOID:9884 muscular dystrophy ISO RGD:1552006 D RGD:1358757|PMID:11381262 20161005 RGD protein:decreased glycosylation:skeletal muscle 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:736367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20621032|PMID:21569088|PMID:23331010|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0050524 maturity-onset diabetes of the young ISS RGD:736368 D RGD:13592920 20180518 MouseDO OMIM:606391 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0050877 pancreatic agenesis ISO RGD:736367 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22158542 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0050877 pancreatic agenesis ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic hypoplasia PMID:10720084|PMID:11270685|PMID:11772903|PMID:11978663|PMID:14764823|PMID:15001545|PMID:15883474|PMID:15885879|PMID:19228875|PMID:19817786|PMID:19855005|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25741868|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:28436541|PMID:28492532|PMID:29396371|PMID:29439679|PMID:31366392|PMID:34988346 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2311232|PMID:12210084 20090630 RGD protein:increased expression:epithelial cell of pancreas (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115832 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:7240710 20190315 OMIM 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4 PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20009086|PMID:20621032|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:32041611|PMID:34135026|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:11716 prediabetes syndrome ISO RGD:736368 D RGD:2311230|PMID:17673521 20090630 RGD mRNA, protein:decreased expression:pancreas, pancreatic islet (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:11717 neonatal diabetes ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868|PMID:28492532 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:1793 pancreatic cancer ISO RGD:736367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19077462|PMID:25086665|PMID:26098869 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:3526 cerebral infarction ISO RGD:736367 D RGD:2311309|PMID:18506375 20090707 RGD associated with Metabolic Syndrome; DNA:duplication:5' utr:-108 3G>4G (human) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:3891 placental insufficiency IEP D RGD:2311215|PMID:17893880 20090630 RGD mRNA:increased expression:placenta (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia IEP D RGD:1600277|PMID:12438314 20090630 RGD mRNA:decreased expression:pancreatic islet (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia IEP D RGD:2311207|PMID:10512364 20090701 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736367 D RGD:2308899|PMID:17131142 20090630 RGD associated with Diabetes Mellitus, Insulin-Dependent; (human) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:2311204|PMID:19245309 20090629 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:2311206|PMID:16983179 20090630 RGD associated with Diabetes Mellitus, Experimental; (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9000156 Metaplasia IEP D RGD:2311231|PMID:17003479 20090630 RGD mRNA, protein:increased expression:pancreatic acinus (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation IDA D RGD:2311214|PMID:18464933 20090630 RGD mRNA:decreased expression:pancreatic islet 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2311220|PMID:12606515 20090701 RGD mRNA:decreased expression:pancreas (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:7240710 20200226 OMIM 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1 PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20301620|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1357906|PMID:14988244 20090707 RGD protein:increased expression:pancreatic delta cell (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311225|PMID:17235568 20090630 RGD protein:increased expression:pancreas (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:2311224|PMID:17460716 20090630 RGD 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:2311311|PMID:17226789 20090707 RGD 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736368 D RGD:2311226|PMID:15561947 20090630 RGD 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance IEP D RGD:2311223|PMID:16046294 20090701 RGD protein:increased expression:pancreatic duct (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:736368 D RGD:2311222|PMID:18288891 20090630 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9351 diabetes mellitus ISO RGD:736367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126|PMID:34988346 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9351 diabetes mellitus ISO RGD:736368 D RGD:2308812|PMID:18682608 20090630 RGD mRNA, decreased expression:pancreatic islet (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2311219|PMID:17764693 20090701 RGD protein:decreased expression:pancreas (rat) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:24464100 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:2311306|PMID:15734849 20090707 RGD mRNA:increased expression:pancreatic islet (human) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:2311307|PMID:10545531 20090707 RGD DNA:insertion, polymorphism:cds:InsCCG243, Q59L, D76N (human) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:2311308|PMID:15170499 20090707 RGD DNA:polymorphism:cds:D76N (human) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:7240710 20190315 OMIM 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:20301620|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736368 D RGD:2311217|PMID:9637677 20090630 RGD DNA:deletion:exon 2 (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736368 D RGD:2311221|PMID:9075799 20090630 RGD protein:increased expression:pancreatic duct (mouse) 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736368 D RGD:2311305|PMID:19371350 20090707 RGD 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736367 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:D76N (human) PMID:15170499|REF_RGD_ID:2311308 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:2311310|PMID:17383157 20090707 RGD 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISS RGD:736368 D RGD:13592920 20180518 MouseDO OMIM:222100 62387 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9970 obesity ISO RGD:736367 D RGD:1625044|PMID:15979049 20090707 RGD mRNA:increased expression:exocrine pancreas (human) 62389 Klf6 KLF transcription factor 6 gene DOID:0080600 COVID-19 ISO RGD:1349381 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 62389 Klf6 KLF transcription factor 6 gene DOID:10283 prostate cancer ISO RGD:1349381 D RGD:7240710 20180418 OMIM 62389 Klf6 KLF transcription factor 6 gene DOID:10283 prostate cancer ISO RGD:1349381 D RGD:734811|PMID:11752579 20150113 RGD DNA:loss of heterozygosity, missense mutations:multiple 62389 Klf6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:7240710 20220209 OMIM 62389 Klf6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Gastric cancer 62389 Klf6 KLF transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1349381 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 62389 Klf6 KLF transcription factor 6 gene DOID:630 genetic disease ISO RGD:1349381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62389 Klf6 KLF transcription factor 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349381 D RGD:11554173 20220215 CTD CTD Direct Evidence: marker/mechanism 62389 Klf6 KLF transcription factor 6 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1349381 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11752579 62389 Klf6 KLF transcription factor 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 62389 Klf6 KLF transcription factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349381 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 62389 Klf6 KLF transcription factor 6 gene DOID:9006024 Hypotension ISO RGD:1349381 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hypotension PMID:28492532 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:0050576 Senior-Loken syndrome ISO RGD:735623 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:735623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:735623 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735623 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:735623 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:28492532 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:10283 prostate cancer severity ISO RGD:735623 D RGD:13504678|PMID:22546513 20180116 RGD DNA:SNP: :rs2125230 (human) 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:11372 megacolon ISO RGD:735623 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735623 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735623 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:219 colon cancer treatment ISO RGD:735623 D RGD:13209140|PMID:20811704 20170830 RGD 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:735623 D RGD:13504677|PMID:20638364 20180116 RGD 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:735623 D RGD:13674164|PMID:27422127 20180710 RGD 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:3069 malignant astrocytoma severity ISO RGD:735623 D RGD:13674163|PMID:20167810 20180710 RGD 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735623 D RGD:13432583|PMID:19846969 20171003 RGD 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:735623 D RGD:13451128|PMID:27919956 20171115 RGD mRNA:increased expression:pancreas (human) 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735623 D RGD:13503319|PMID:23378641 20180110 RGD DNA:missense mutation:exon, intron:multiple 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:735623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:33176815 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:7240710 20160810 OMIM 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:17576681|PMID:18813315|PMID:22500628|PMID:22729223|PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:25416470|PMID:25523067|PMID:25741868|PMID:28086757|PMID:28492532|PMID:28969385|PMID:29286531|PMID:31471318|PMID:33176815|PMID:34170046|PMID:9536098 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:735623 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:735623 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome PMID:22729224|PMID:23745724|PMID:25416470|PMID:25523067|PMID:28086757 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:735623 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:17576681|PMID:20835237|PMID:22190896|PMID:25640679|PMID:25741868|PMID:28492532|PMID:9536098 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735623 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:33176815 62390 Akt3 AKT serine/threonine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735623 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:0060478 Zika fever ISO RGD:62396 D RGD:32733625|PMID:30241539 20200701 RGD mRNA:increased expression:brain 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:10320 asbestosis ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:2316 brain ischemia IEP D RGD:1599731|PMID:15921666 20070213 RGD Protein:increased expression:brain 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:2527 nephrosis IEP D RGD:1599729|PMID:16400006 20070213 RGD Protein:increased expression:glomerulus, podocyte 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16400006 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:2773 contact dermatitis ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:69165 D RGD:34888225|PMID:20856677 20200702 RGD mRNA,protein:increased expression:lung 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:3021 acute kidney failure IEP D RGD:1599736|PMID:15476864 20070213 RGD Protein:increased expression:renal tubule epithelium 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:3083 chronic obstructive pulmonary disease treatment IEP D RGD:13782182|PMID:24694971 20180827 RGD 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5154 borna disease IEP D RGD:32733622|PMID:16912310 20200701 RGD mRNA,protein:increased expression:cerebellum, hippocampus 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5199 ureteral obstruction treatment IEP D RGD:13782175|PMID:25707520 20180827 RGD 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5295 intestinal disease ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1283316|PMID:7503811|PMID:8510758 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:1599726|PMID:1283316 20070213 RGD DNA:translocation: ;t(12;16)(q13;p11) 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease IEP D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:69165 D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung, endothelial cell 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:5844 myocardial infarction ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:607 paraplegia ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:630 genetic disease ISO RGD:69165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:6846 familial melanoma ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69165 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment IEP D RGD:35316073|PMID:30226536 20200708 RGD 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:34901874|PMID:30465396 20200707 RGD associated with Crush Injuries 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9004713 Acute-Phase Reaction IEP D RGD:1599745|PMID:8051100 20070213 RGD mRNA:increased expression:liver 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9005175 Ulcer ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment IEP D RGD:13782262|PMID:27781957 20180829 RGD 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:62396 D RGD:156430337|PMID:36044268 20230228 RGD 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD mRNA,protein:increased expression:chondrocyte 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9008939 Breast Neoplasms ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9282 ocular hypertension ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24691439 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9452 fatty liver disease ISO RGD:69165 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9870 galactosemia IEP D RGD:1599728|PMID:16936110 20070213 RGD Protein:increased expression:lens epithelium 62391 Ddit3 DNA-damage inducible transcript 3 gene DOID:9970 obesity ISO RGD:69165 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 628372 ACI.FHH-(D1Mit34-D1Rat156)/Eur strain DOID:576 proteinuria induced IAGP XCO:0000112, XCO:0000121 D RGD:625641|PMID:11875190 19990101 RGD compared to ACI/Eur 628372 ACI.FHH-(D1Mit34-D1Rat156)/Eur strain DOID:9001542 Albuminuria induced IAGP XCO:0000112, XCO:0000121 D RGD:625641|PMID:11875190 19990101 RGD compared to ACI/Eur 628486 NER/Kyo Noda epileptic rat, GMS strain DOID:7725 epilepsy with generalized tonic-clonic seizures penetrance IAGP D RGD:2313241|PMID:19713079 20200530 RGD 628486 NER/Kyo Noda epileptic rat, GMS strain DOID:7725 epilepsy with generalized tonic-clonic seizures susceptibility IAGP D RGD:628480|PMID:9578020 20200530 RGD 628525 Ni/Hin strain DOID:2975 cystic kidney disease IAGP D RGD:628433|PMID:11092972 19990101 RGD 628525 Ni/Hin strain DOID:4450 renal cell carcinoma MODEL: spontaneous IAGP D RGD:628433|PMID:11092972 19990101 RGD 628592 Unc13c unc-13 homolog C gene DOID:11836 clubfoot ISO RGD:1354378 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 628592 Unc13c unc-13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1354378 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628592 Unc13c unc-13 homolog C gene DOID:630 genetic disease ISO RGD:1354378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628592 Unc13c unc-13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1354378 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628593 Unc13d unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:7240710 20130221 OMIM 628593 Unc13d unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 PMID:10459864|PMID:14622600|PMID:15466010|PMID:15548590|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:19903216|PMID:20015888|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21182842|PMID:21248318|PMID:21600143|PMID:21653941|PMID:21674762|PMID:21755595|PMID:21881043|PMID:21931115|PMID:22508512|PMID:23180437|PMID:23560006|PMID:23669735|PMID:23672263|PMID:23840885|PMID:24033266|PMID:24043286|PMID:24139496|PMID:24309606|PMID:24459464|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24916509|PMID:24935083|PMID:25502423|PMID:25553300|PMID:25573973|PMID:25741868|PMID:25901543|PMID:26342526|PMID:26419432|PMID:26684649|PMID:27123661|PMID:27164702|PMID:27209435|PMID:27781387|PMID:27872624|PMID:27896523|PMID:27914778|PMID:28353193|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28848550|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29409136|PMID:29415165|PMID:29549174|PMID:29665027|PMID:29783935|PMID:2978935|PMID:29864493|PMID:29930202|PMID:30220951|PMID:30899265|PMID:31388699|PMID:31681265|PMID:32135276|PMID:32245292|PMID:32327331|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32888943|PMID:33658321|PMID:33746956|PMID:34083498|PMID:34170459|PMID:34339548|PMID:9536098 628593 Unc13d unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 susceptibility ISO RGD:1604204 D RGD:1600451|PMID:14622600 20070308 RGD DNA:deletions, insertion, snps:exons, intron:multiple (human) 628593 Unc13d unc-13 homolog D gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10459864|PMID:14622600|PMID:15466010|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21248318|PMID:21600143|PMID:21674762|PMID:21755595|PMID:21881043|PMID:23180437|PMID:23840885|PMID:24033266|PMID:24139496|PMID:24459464|PMID:24470399|PMID:24916509|PMID:25502423|PMID:25573973|PMID:25741868|PMID:26342526|PMID:28399723|PMID:28492532|PMID:28748566|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29415165|PMID:29549174|PMID:30899265|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34339548|PMID:9536098 628593 Unc13d unc-13 homolog D gene DOID:630 genetic disease ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628593 Unc13d unc-13 homolog D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604204 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 628593 Unc13d unc-13 homolog D gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:14622600|PMID:16778144|PMID:16825436|PMID:20823128|PMID:21248318|PMID:21931115|PMID:23180437|PMID:23560006|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24935083|PMID:25553300|PMID:25573973|PMID:25741868|PMID:27123661|PMID:27896523|PMID:28492532|PMID:28848550|PMID:29262924|PMID:29312353|PMID:29549174|PMID:31388699|PMID:32327331|PMID:32542393|PMID:33746956 628594 Rasd2 RASD family, member 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1346276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 628594 Rasd2 RASD family, member 2 gene DOID:630 genetic disease ISO RGD:1346276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628595 Tubb3 tubulin, beta 3 class III gene DOID:0050453 lissencephaly ISO RGD:1347965 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:29671837 628595 Tubb3 tubulin, beta 3 class III gene DOID:0050952 spastic ataxia ISO RGD:1347965 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 628595 Tubb3 tubulin, beta 3 class III gene DOID:0060246 MASA syndrome ISO RGD:1347965 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25741868 628595 Tubb3 tubulin, beta 3 class III gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1347965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 628595 Tubb3 tubulin, beta 3 class III gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1347965 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 628595 Tubb3 tubulin, beta 3 class III gene DOID:0080143 congenital fibrosis of the extraocular muscles ISS RGD:1550181 D RGD:13592920 20180518 MouseDO OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 628595 Tubb3 tubulin, beta 3 class III gene DOID:0081017 congenital fibrosis of the extraocular muscles 3A ISO RGD:1347965 D RGD:7240710 20130221 OMIM 628595 Tubb3 tubulin, beta 3 class III gene DOID:0081017 congenital fibrosis of the extraocular muscles 3A ISO RGD:1347965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FEOM3 LOCUS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy PMID:10393037|PMID:12073023|PMID:15223798|PMID:18414213|PMID:20074521|PMID:20301522|PMID:20829227|PMID:2133536|PMID:23378218|PMID:24257358|PMID:24612975|PMID:25131622|PMID:25482575|PMID:25741868|PMID:26639658|PMID:26775887|PMID:27046833|PMID:28492532|PMID:28677066|PMID:29269699|PMID:29382549|PMID:29453417|PMID:29706646|PMID:31219644|PMID:31226147|PMID:32573066|PMID:34652576|PMID:34863918|PMID:7724178 628595 Tubb3 tubulin, beta 3 class III gene DOID:0090137 complex cortical dysplasia with other brain malformations 1 ISO RGD:1347965 D RGD:7240710 20140911 OMIM 628595 Tubb3 tubulin, beta 3 class III gene DOID:0090137 complex cortical dysplasia with other brain malformations 1 ISO RGD:1347965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1 PMID:18414213|PMID:20074521|PMID:20301522|PMID:20829227|PMID:23378218|PMID:25059107|PMID:25131622|PMID:25741868|PMID:26130693|PMID:26639658|PMID:26739025|PMID:28492532|PMID:28677066|PMID:28726809|PMID:29261186|PMID:29269699|PMID:29382549|PMID:29706646|PMID:30667171|PMID:31219644|PMID:31226147|PMID:31269740|PMID:32570172|PMID:32901917|PMID:33921132|PMID:34863918|PMID:34869359 628595 Tubb3 tubulin, beta 3 class III gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1347965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 628595 Tubb3 tubulin, beta 3 class III gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1347965 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 628595 Tubb3 tubulin, beta 3 class III gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1347965 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 628595 Tubb3 tubulin, beta 3 class III gene DOID:10283 prostate cancer ISO RGD:1347965 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 628595 Tubb3 tubulin, beta 3 class III gene DOID:13636 Fanconi anemia ISO RGD:1347965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 628595 Tubb3 tubulin, beta 3 class III gene DOID:630 genetic disease ISO RGD:1347965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20074521|PMID:20301522|PMID:20829227|PMID:25131622|PMID:25741868|PMID:28492532|PMID:28677066|PMID:28726809|PMID:29261186|PMID:29382549|PMID:31219644|PMID:34869359 628595 Tubb3 tubulin, beta 3 class III gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1347965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:18414213|PMID:25741868|PMID:26130693|PMID:28492532|PMID:28677066|PMID:29261186|PMID:30667171|PMID:32570172|PMID:32901917 628595 Tubb3 tubulin, beta 3 class III gene DOID:9002762 Ovarian Neoplasms ISO RGD:1347965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497984 628595 Tubb3 tubulin, beta 3 class III gene DOID:9008582 Developmental Disease ISO RGD:1347965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:29269699|PMID:29706646 628595 Tubb3 tubulin, beta 3 class III gene DOID:9008939 Breast Neoplasms ISO RGD:1347965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21781528 628596 Tubb5 tubulin, beta 5 class I gene DOID:0050453 lissencephaly ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:29671837|PMID:29706646 628596 Tubb5 tubulin, beta 5 class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:7240710 20140911 OMIM 628596 Tubb5 tubulin, beta 5 class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 PMID:23246003|PMID:24833723|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646|PMID:32085672|PMID:34211110 628596 Tubb5 tubulin, beta 5 class I gene DOID:0112241 multiple benign circumferential skin creases on limbs ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome PMID:12239728|PMID:23246003|PMID:23324645|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646 628596 Tubb5 tubulin, beta 5 class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:7240710 20160217 OMIM 628596 Tubb5 tubulin, beta 5 class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 PMID:12239728|PMID:23246003|PMID:23324645|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646 628596 Tubb5 tubulin, beta 5 class I gene DOID:10907 microcephaly ISS RGD:1624063 D RGD:13592920 20180518 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 628596 Tubb5 tubulin, beta 5 class I gene DOID:10908 hydrocephalus ISO RGD:1606428 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 628596 Tubb5 tubulin, beta 5 class I gene DOID:11372 megacolon ISO RGD:1606428 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 628596 Tubb5 tubulin, beta 5 class I gene DOID:12930 dilated cardiomyopathy ISO RGD:1624063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 628596 Tubb5 tubulin, beta 5 class I gene DOID:6000 congestive heart failure ISO RGD:1624063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 628596 Tubb5 tubulin, beta 5 class I gene DOID:630 genetic disease ISO RGD:1606428 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23246003|PMID:24833723|PMID:25741868 628596 Tubb5 tubulin, beta 5 class I gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1624063 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 628596 Tubb5 tubulin, beta 5 class I gene DOID:9009131 Ventriculomegaly ISO RGD:1606428 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 628597 Filip1 filamin A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628597 Filip1 filamin A interacting protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 628597 Filip1 filamin A interacting protein 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1347231 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 628598 Rab31 RAB31, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734458 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 628598 Rab31 RAB31, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628598 Rab31 RAB31, member RAS oncogene family gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:734458 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 628598 Rab31 RAB31, member RAS oncogene family gene DOID:543 dystonia ISO RGD:734458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 628598 Rab31 RAB31, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628598 Rab31 RAB31, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734458 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628599 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:7240710 20190315 OMIM 628599 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 14 PMID:23232022|PMID:24777844|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28181337|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 628599 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:1184 nephrotic syndrome ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23232022|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 628599 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:630 genetic disease ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628600 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733627 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628600 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733627 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628600 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:289 endometriosis ISO RGD:733627 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 628600 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:630 genetic disease ISO RGD:733627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628600 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733627 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 628600 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733627 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628601 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:731768 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628601 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:731768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628601 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:630 genetic disease ISO RGD:731768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628601 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731768 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 628601 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731768 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733168 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:733168 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:733168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:733168 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:1540 parathyroid carcinoma ISO RGD:733168 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:5419 schizophrenia ISO RGD:733168 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:630 genetic disease ISO RGD:733168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733168 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628602 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733168 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628603 Gzmf granzyme F gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 628603 Gzmf granzyme F gene DOID:630 genetic disease ISO RGD:1348061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628603 Gzmf granzyme F gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348061 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 628603 Gzmf granzyme F gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604656 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604656 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604656 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0111934 immunodeficiency 38 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:0111935 immunodeficiency 16 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:1826 epilepsy ISO RGD:1604656 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604656 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:630 genetic disease ISO RGD:1604656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604656 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604656 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 628604 Cdk11b cyclin-dependent kinase 11B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628606 Tubg1 tubulin, gamma 1 gene DOID:0050453 lissencephaly ISO RGD:732715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:28492532|PMID:29671837|PMID:29706637|PMID:31086189 628606 Tubg1 tubulin, gamma 1 gene DOID:0080000 muscular disease ISO RGD:732715 D RGD:1626306|PMID:15912881 20070731 RGD 628606 Tubg1 tubulin, gamma 1 gene DOID:0080600 COVID-19 ISO RGD:732715 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628606 Tubg1 tubulin, gamma 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 628606 Tubg1 tubulin, gamma 1 gene DOID:0090138 complex cortical dysplasia with other brain malformations 4 ISO RGD:732715 D RGD:7240710 20140911 OMIM 628606 Tubg1 tubulin, gamma 1 gene DOID:0090138 complex cortical dysplasia with other brain malformations 4 ISO RGD:732715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4 PMID:23603762|PMID:25741868|PMID:28492532 628606 Tubg1 tubulin, gamma 1 gene DOID:10907 microcephaly ISO RGD:732715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 628606 Tubg1 tubulin, gamma 1 gene DOID:3429 inclusion body myositis ISO RGD:732715 D RGD:1626306|PMID:15912881 20070731 RGD 628606 Tubg1 tubulin, gamma 1 gene DOID:630 genetic disease ISO RGD:732715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628607 Lrit1 leucine-rich repeat, Ig-like and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:736558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:7240710 20130221 OMIM 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy PMID:12871948|PMID:14661163|PMID:15488219|PMID:15889350|PMID:15980113|PMID:1605231|PMID:16417886|PMID:17356046|PMID:18187543|PMID:18398436|PMID:18414213|PMID:18636565|PMID:20083155|PMID:20301789|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25167861|PMID:25517855|PMID:25527620|PMID:25741868|PMID:27081503|PMID:27212794|PMID:27805744|PMID:28492532|PMID:30369548|PMID:31410843|PMID:31690835|PMID:32277047|PMID:32559475|PMID:33847015|PMID:8484404 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737451 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:10283 prostate cancer ISO RGD:737451 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:1059 intellectual disability ISO RGD:737451 D RGD:1599329|PMID:15980113 20070130 RGD Allan-Herndon-Dudley syndrome (AHDS), OMIM:300095 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:1059 intellectual disability ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:12849 autistic disorder ISO RGD:737451 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:13580 cholestasis ISO RGD:737451 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:1459 hypothyroidism ISO RGD:737451 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:31121238 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737451 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:20301789|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:28492532|PMID:28832565 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:607 paraplegia ISO RGD:737451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15488219|PMID:15889350|PMID:15980113|PMID:16199547|PMID:16957765|PMID:17576681|PMID:18187543|PMID:18398436|PMID:18414213|PMID:19648159|PMID:20083155|PMID:20301789|PMID:21835051|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25222753|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:27977298|PMID:28492532|PMID:29714107|PMID:30369548|PMID:31410843|PMID:32559475|PMID:9536098 628608 Slc16a2 solute carrier family 16 member 2 gene DOID:630 genetic disease ISO RGD:737451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15980113|PMID:16974106|PMID:18398436|PMID:18414213|PMID:18636565|PMID:19194886|PMID:20301789|PMID:21835051|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:28492532 628610 Cpq carboxypeptidase Q gene DOID:4450 renal cell carcinoma ISO RGD:736012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 628610 Cpq carboxypeptidase Q gene DOID:630 genetic disease ISO RGD:736012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628610 Cpq carboxypeptidase Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628611 Elavl2 ELAV like RNA binding protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1314763 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 628611 Elavl2 ELAV like RNA binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1314763 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628611 Elavl2 ELAV like RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1314763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628611 Elavl2 ELAV like RNA binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1314763 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1602858 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:1059 intellectual disability ISO RGD:1602858 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:1909 melanoma ISO RGD:1602858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:2746 glycogen storage disease V ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 628612 Bles03 basophilic leukemia expressed protein BLES03 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628613 Ffar1 free fatty acid receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 628613 Ffar1 free fatty acid receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 628613 Ffar1 free fatty acid receptor 1 gene DOID:543 dystonia ISO RGD:736481 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 628613 Ffar1 free fatty acid receptor 1 gene DOID:630 genetic disease ISO RGD:736481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628613 Ffar1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736481 D RGD:2315761|PMID:19758793 20100112 RGD 628613 Ffar1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ameliorates ISO RGD:736481 D RGD:150517551|PMID:19401434 20100121 RGD 628614 Afm afamin gene DOID:3021 acute kidney failure ISO RGD:1352528 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 628614 Afm afamin gene DOID:630 genetic disease ISO RGD:1352528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628614 Afm afamin gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1352528 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 628614 Afm afamin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628614 Afm afamin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352528 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:1059 intellectual disability ISO RGD:1605061 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:11476 osteoporosis ISO RGD:1605061 D RGD:8554872 20181002 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17 PMID:23644456 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1605061 D RGD:7240710 20230517 OMIM 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:1686 glaucoma ISS RGD:1616653 D RGD:13592920 20180518 MouseDO 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1605061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty ISO RGD:1605061 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DELAYED PUBERTY, SELF-LIMITED PMID:32493844 628615 Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty susceptibility ISO RGD:1605061 D RGD:7240710 20230517 OMIM 628616 Drgx dorsal root ganglia homeobox gene DOID:11372 megacolon ISO RGD:1353814 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 628616 Drgx dorsal root ganglia homeobox gene DOID:5419 schizophrenia ISO RGD:1353814 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria PMID:15044805|PMID:18414213|PMID:19016831|PMID:20929962|PMID:21349848|PMID:22238662|PMID:24033266|PMID:24949629|PMID:25642806|PMID:25741868|PMID:25922261|PMID:26467025|PMID:27657451|PMID:28097321|PMID:28424266|PMID:28492532|PMID:29707406|PMID:34513772 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive PMID:25741868 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:1826 epilepsy ISO RGD:1352005 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:630 genetic disease ISO RGD:1352005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15044805|PMID:16240336|PMID:17576745|PMID:18042463|PMID:18414213|PMID:20929962|PMID:21349848|PMID:21723461|PMID:24949629|PMID:25741868|PMID:26467025|PMID:27818281|PMID:28424266|PMID:28492532 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352005 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352005 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352005 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15044805|PMID:25741868 628617 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352005 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735317 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:11554173 20200619 CTD CTD Direct Evidence: marker/mechanism 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:7240710 20200619 OMIM 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked PMID:25741868|PMID:27476656 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:25741868|PMID:27476656 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:12849 autistic disorder ISO RGD:735317 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:630 genetic disease ISO RGD:735317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:8398 osteoarthritis ISO RGD:735317 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:735317 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 628618 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735317 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:7240710 20200826 OMIM 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES PMID:16728643|PMID:17341560|PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:1059 intellectual disability ISO RGD:1354071 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1354071 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:24050928|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17299063|PMID:17341560|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:630 genetic disease ISO RGD:1354071 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:657 adenoma ISO RGD:1354071 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22975028 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1354071 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9001520 Symmetric Acroleukopathy ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acroleukopathy, symmetric PMID:22319033|PMID:23038625|PMID:25741868|PMID:26792934|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354071 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28166811|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:33029249|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:12810716|PMID:16199547|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1354071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:16728643|PMID:17242703|PMID:17244780|PMID:17609395|PMID:18484068|PMID:19474519|PMID:20506337|PMID:21348957|PMID:21753072|PMID:22319033|PMID:22720333|PMID:22915287|PMID:24050928|PMID:25184284|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:28255869|PMID:28492532|PMID:29074612 628619 Aip aryl-hydrocarbon receptor-interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:0050758 metabolic acidosis treatment IEP D RGD:9999224|PMID:16954343 20150414 RGD 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:11832 visual epilepsy IEP D RGD:9999229|PMID:21138736 20150414 RGD mRNA:increased expression:hippocampus 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:630 genetic disease ISO RGD:730997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730997 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:9004423 Developmental and Epileptic Encephalopathy 102 ISO RGD:730997 D RGD:7240710 20220608 OMIM 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:9004423 Developmental and Epileptic Encephalopathy 102 ISO RGD:730997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 PMID:25741868|PMID:31130284|PMID:34605855 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:9005930 Endotoxemia IEP D RGD:9999227|PMID:20036385 20150414 RGD 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:9007661 Dwarfism ISO RGD:730997 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 628620 Slc38a3 solute carrier family 38, member 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 628621 Gjd4 gap junction protein, delta 4 gene DOID:630 genetic disease ISO RGD:1603351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628622 Alk ALK receptor tyrosine kinase gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16151469|PMID:19503098|PMID:21345110|PMID:22155737|PMID:22920921|PMID:22968692 628622 Alk ALK receptor tyrosine kinase gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1353820 D RGD:1600902|PMID:15659732 20070330 RGD 628622 Alk ALK receptor tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 628622 Alk ALK receptor tyrosine kinase gene DOID:1324 lung cancer ISO RGD:1353820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20979473|PMID:21575866|PMID:22277784|PMID:24327273|PMID:24670165|PMID:28492532 628622 Alk ALK receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:18923524|PMID:23104988|PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 628622 Alk ALK receptor tyrosine kinase gene DOID:2769 tic disorder ISO RGD:1353820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Phonic tics PMID:32989326 628622 Alk ALK receptor tyrosine kinase gene DOID:3247 rhabdomyosarcoma ISO RGD:1353820 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:22184391 628622 Alk ALK receptor tyrosine kinase gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 628622 Alk ALK receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1353820 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 628622 Alk ALK receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:20979469|PMID:20979473|PMID:21102269|PMID:21336183|PMID:21587085|PMID:21757253|PMID:21767331|PMID:21791641|PMID:21823889|PMID:21904575|PMID:21933749|PMID:22215748|PMID:22277784|PMID:22282074|PMID:22286583|PMID:22508824|PMID:22568572|PMID:22617245|PMID:22713522|PMID:22787409|PMID:22887466|PMID:22920921|PMID:22954507|PMID:22968692|PMID:22986231|PMID:23020724|PMID:23686600 628622 Alk ALK receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165 628622 Alk ALK receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1353820 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:20979469|PMID:21823889|PMID:22071784|PMID:22135231|PMID:22153831|PMID:22743652|PMID:22980554|PMID:22999080 628622 Alk ALK receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165|PMID:26619011|PMID:27993330 628622 Alk ALK receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22743654 628622 Alk ALK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628622 Alk ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20576349|PMID:21823617|PMID:21859094|PMID:22072639|PMID:22286764|PMID:22588779|PMID:22789543|PMID:22920921|PMID:22932897|PMID:22968692|PMID:23104988|PMID:23334666 628622 Alk ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:24205241|PMID:24327273|PMID:24675991|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:27132509|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 628622 Alk ALK receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 628622 Alk ALK receptor tyrosine kinase gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20979472|PMID:21030459|PMID:22920921 628622 Alk ALK receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 628622 Alk ALK receptor tyrosine kinase gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22215853 628622 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26503946|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 628622 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 628622 Alk ALK receptor tyrosine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986231 628622 Alk ALK receptor tyrosine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:24205241|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 628622 Alk ALK receptor tyrosine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22286764|PMID:23104988 628622 Alk ALK receptor tyrosine kinase gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:17576681|PMID:21838707|PMID:22072639|PMID:23104988|PMID:25741868|PMID:28492532|PMID:32984025|PMID:9536098 628622 Alk ALK receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1353820 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 628622 Alk ALK receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 628622 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24326041|PMID:24327273|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26689913|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29684080|PMID:30004444|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33372952|PMID:33486679|PMID:33898318|PMID:9536098 628622 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 susceptibility ISO RGD:1353820 D RGD:7240710 20190502 OMIM 628624 Mxd3 Max dimerization protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 628624 Mxd3 Max dimerization protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:734323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 628624 Mxd3 Max dimerization protein 3 gene DOID:0112103 Sotos syndrome 1 ISO RGD:734323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 628624 Mxd3 Max dimerization protein 3 gene DOID:630 genetic disease ISO RGD:734323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628624 Mxd3 Max dimerization protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:734323 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 628624 Mxd3 Max dimerization protein 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:734323 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 628625 Tmprss5 transmembrane serine protease 5 gene DOID:1059 intellectual disability ISO RGD:732836 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628625 Tmprss5 transmembrane serine protease 5 gene DOID:630 genetic disease ISO RGD:732836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628625 Tmprss5 transmembrane serine protease 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732836 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:0050868 hepatocellular adenoma EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:10959800 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:13580 cholestasis disease_progression IEP D RGD:13782189|PMID:29204052 20180828 RGD 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:1596 depressive disorder IEP D RGD:4892242|PMID:20595028 20120322 RGD 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:3021 acute kidney failure EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:9005372 Inflammation EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21467745 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:9005372 Inflammation IEP D RGD:1625398|PMID:15771231 20070606 RGD mRNA:decreased expression:liver 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 628626 Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 gene DOID:9352 type 2 diabetes mellitus EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:0050742 nicotine dependence ISO RGD:1346751 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346751 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:2340 craniosynostosis ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:3071 gliosarcoma ISO RGD:1346751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9766669|PMID:11389073 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:399 tuberculosis treatment ISO RGD:1346751 D RGD:41410886|PMID:28389387 20210217 RGD DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:399 tuberculosis treatment ISO RGD:1346751 D RGD:41412160|PMID:30239753 20210218 RGD associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human) 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1346751 D RGD:11097175|PMID:18281305 20210218 RGD DNA:SNPs: :516G>T,983T>C (human) 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1346751 D RGD:11098366|PMID:21862974 20210218 RGD DNA:haplotype: :CYP2B6*6(human) 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:630 genetic disease ISO RGD:1346751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346751 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:783 end stage renal disease ISO RGD:1346751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15248218 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9001273 Efavirenz, Poor Metabolism of ISO RGD:1346751 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9001273 Efavirenz, Poor Metabolism of ISO RGD:1346751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Efavirenz, poor metabolism of PMID:15194512|PMID:15622315|PMID:15668854|PMID:15825040|PMID:15864119|PMID:16267764|PMID:16392089|PMID:16495778|PMID:16857630|PMID:17047492|PMID:17235330|PMID:17356468|PMID:17918089|PMID:17968817|PMID:18057928|PMID:18281305|PMID:18503405|PMID:18655316|PMID:18728241|PMID:18784455|PMID:18839779|PMID:19124658|PMID:19218571|PMID:19228205|PMID:19371316|PMID:19433561|PMID:19474465|PMID:19531981|PMID:19659438|PMID:19704172|PMID:19779319|PMID:20338069|PMID:20441246|PMID:20625352|PMID:20639527|PMID:20720517|PMID:20723261|PMID:20841522|PMID:20860463|PMID:20952418|PMID:21393201|PMID:21441248|PMID:21633320|PMID:21715435|PMID:21860339|PMID:22057858|PMID:22111602|PMID:22354160|PMID:22471906|PMID:22481606|PMID:22680342|PMID:22927450|PMID:22950382|PMID:22992668|PMID:23080225|PMID:23172109|PMID:23254426|PMID:23399569|PMID:23418033|PMID:23640958|PMID:23734829|PMID:23763943|PMID:23859571|PMID:23970651|PMID:23982262|PMID:24080498|PMID:24145522|PMID:24217698|PMID:24299220|PMID:24316028|PMID:24517233|PMID:24521642|PMID:24551111|PMID:24831655|PMID:24956253|PMID:25303294|PMID:25501988|PMID:25611810|PMID:25669165|PMID:25831219|PMID:25882300|PMID:25889207|PMID:25974723|PMID:26107645|PMID:26196596|PMID:26348712|PMID:26774523|PMID:26779253|PMID:26831894|PMID:27195527|PMID:27299708|PMID:27655857|PMID:28145050|PMID:28187506|PMID:28492729|PMID:28692529|PMID:28718515|PMID:28816644|PMID:28886044|PMID:28947469|PMID:29624706|PMID:31628422|PMID:32106141|PMID:32209837 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9001273 Efavirenz, Poor Metabolism of susceptibility ISO RGD:1346751 D RGD:7240710 20230505 OMIM 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features susceptibility ISO RGD:1346751 D RGD:9068941 20200609 RGD DNA:polymorphism:G15631T PMID:19144407|REF_RGD_ID:6480472 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1624098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1624098 D RGD:2315743|PMID:11465407 20100112 RGD mRNA:increased expression:liver 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346751 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:28762043|PMID:33814510 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346751 D RGD:9068941 20200609 RGD DNA:polymorphism:G15631T PMID:19144407|REF_RGD_ID:6480472 628627 Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 gene DOID:9269 maple syrup urine disease ISO RGD:1346751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:1793 pancreatic cancer ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16965396 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:1909 melanoma ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736798 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:736798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736798 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:17464989|PMID:28284560 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:17379860 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:8398 osteoarthritis ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:8466 retinal degeneration ISO RGD:736798 D RGD:11060273|PMID:15184935 20160420 RGD 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:736798 D RGD:150527841|PMID:25009298 20211202 RGD associated with stomach carcinoma;DNA:hypermethylation 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736798 D RGD:11060269|PMID:11687973 20160420 RGD 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:11060271|PMID:20537494 20160420 RGD mRNA,protein:increased expression:carotid artery: 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19435926 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736798 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 628629 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736798 D RGD:11060127|PMID:22052167 20160419 RGD DNA:hypermethylation:promoter: 628631 Mrfap1 Morf4 family associated protein 1 gene DOID:630 genetic disease ISO RGD:1606988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628632 Hsbp1 heat shock factor binding protein 1 gene DOID:630 genetic disease ISO RGD:736685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628633 Mafk MAF bZIP transcription factor K gene DOID:630 genetic disease ISO RGD:1350091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628634 Prlh prolactin releasing hormone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 628634 Prlh prolactin releasing hormone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 628634 Prlh prolactin releasing hormone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 628634 Prlh prolactin releasing hormone gene DOID:1059 intellectual disability ISO RGD:1352450 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628634 Prlh prolactin releasing hormone gene DOID:630 genetic disease ISO RGD:1352450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628634 Prlh prolactin releasing hormone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 628634 Prlh prolactin releasing hormone gene DOID:9970 obesity IDA D RGD:1641829|PMID:15854142 20070823 RGD 628634 Prlh prolactin releasing hormone gene DOID:9970 obesity ISS RGD:1617091 D RGD:13592920 20180518 MouseDO OMIM:601665 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:733693 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733693 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:630 genetic disease ISO RGD:733693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:9005369 Hepatomegaly ISO RGD:733693 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 628635 Akr7a3 aldo-keto reductase family 7 member A3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 628636 Rnf34 ring finger protein 34 gene DOID:630 genetic disease ISO RGD:1352323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628636 Rnf34 ring finger protein 34 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352323 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16270526 628637 Pycard PYD and CARD domain containing gene DOID:0050685 small cell carcinoma ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 628637 Pycard PYD and CARD domain containing gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602723 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 628637 Pycard PYD and CARD domain containing gene DOID:1749 squamous cell carcinoma ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 628637 Pycard PYD and CARD domain containing gene DOID:1790 malignant mesothelioma ISO RGD:1602723 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26935421 628637 Pycard PYD and CARD domain containing gene DOID:182 calcinosis ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 628637 Pycard PYD and CARD domain containing gene DOID:299 adenocarcinoma ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 628637 Pycard PYD and CARD domain containing gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 628637 Pycard PYD and CARD domain containing gene DOID:4079 heart valve disease ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 628637 Pycard PYD and CARD domain containing gene DOID:4552 large cell carcinoma ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 628637 Pycard PYD and CARD domain containing gene DOID:557 kidney disease ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22647887|PMID:24508291 628637 Pycard PYD and CARD domain containing gene DOID:630 genetic disease ISO RGD:1602723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628637 Pycard PYD and CARD domain containing gene DOID:684 hepatocellular carcinoma ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17471463 628637 Pycard PYD and CARD domain containing gene DOID:9000217 Stomach Neoplasms ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 628637 Pycard PYD and CARD domain containing gene DOID:9001542 Albuminuria ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 628637 Pycard PYD and CARD domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628637 Pycard PYD and CARD domain containing gene DOID:9004657 Weight Gain ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24508291 628637 Pycard PYD and CARD domain containing gene DOID:9005172 Lung Neoplasms ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16778195 628637 Pycard PYD and CARD domain containing gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17986858 628637 Pycard PYD and CARD domain containing gene DOID:9279 hyperhomocysteinemia ISO RGD:1602723 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22647887 628638 Rnf40 ring finger protein 40 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732458 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 628638 Rnf40 ring finger protein 40 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 628638 Rnf40 ring finger protein 40 gene DOID:12387 nephrogenic diabetes insipidus IEP D RGD:9587431|PMID:21734099 20150304 RGD protein:increased expression:kidney (rat) 628638 Rnf40 ring finger protein 40 gene DOID:630 genetic disease ISO RGD:732458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0050450 Gitelman syndrome ISO RGD:736095 D RGD:1300379|PMID:11102542 19990101 RGD 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736095 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:21415153|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:7240710 20140723 OMIM 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:10831588|PMID:10906158|PMID:11102542|PMID:11734858|PMID:15531551|PMID:15875219|PMID:16902263|PMID:17185149|PMID:17622951|PMID:21415153|PMID:21631963|PMID:21865213|PMID:23703872|PMID:23991001|PMID:24033266|PMID:24058621|PMID:24271511|PMID:24830959|PMID:24965226|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25810436|PMID:26467025|PMID:26920127|PMID:28288174|PMID:28381550|PMID:28492532|PMID:28555925|PMID:29254190|PMID:30773290|PMID:31115572|PMID:31672324|PMID:31690835|PMID:31803959|PMID:31834604|PMID:32576985|PMID:32857947|PMID:33532864|PMID:9326936 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:7240710 20140723 OMIM 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bartter disease type 4B PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:10763 hypertension ISO RGD:736095 D RGD:1600684|PMID:15148291 20070322 RGD DNA:polymorphism:T481S 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:10763 hypertension no_association ISO RGD:736095 D RGD:1600683|PMID:16003175 20070322 RGD DNA:polymorphism:T481S 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:445 Bartter disease ISO RGD:736095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10561751 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:576 proteinuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:24830959|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:630 genetic disease ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:9001601 Familial Focal Epilepsy, with Variable Foci 1 ISO RGD:736095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:25741868|PMID:30773290 628639 Clcnkb chloride voltage-gated channel Kb gene DOID:9007758 Bartter Syndrome Type 3, with Hypocalciuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria PMID:15531551|PMID:16902263|PMID:17622951|PMID:24830959|PMID:24965226|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190 628640 Gzma granzyme A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348122 D RGD:5135520|PMID:20047264 20110726 RGD 628640 Gzma granzyme A gene DOID:630 genetic disease ISO RGD:1348122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628640 Gzma granzyme A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628640 Gzma granzyme A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348122 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628641 Ptger4 prostaglandin E receptor 4 gene DOID:0060058 lymphoma ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19075289 628641 Ptger4 prostaglandin E receptor 4 gene DOID:0060180 colitis ISO RGD:732089 D RGD:6483551|PMID:20833794 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:732089 D RGD:6483525|PMID:22044482 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:11476 osteoporosis treatment IMP D RGD:10043381|PMID:16442794 20150526 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:12387 nephrogenic diabetes insipidus treatment ISO RGD:732089 D RGD:10003043|PMID:19729836 20150430 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:12510 retinal ischemia IEP D RGD:9850261|PMID:12821538 20150429 RGD protein:decreased expression:retina (rat) 628641 Ptger4 prostaglandin E receptor 4 gene DOID:12930 dilated cardiomyopathy ISS RGD:732089 D RGD:13592920 20180518 MouseDO 628641 Ptger4 prostaglandin E receptor 4 gene DOID:13832 patent ductus arteriosus ISO RGD:732089 D RGD:10003086|PMID:9600059 20150430 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:1679 cystitis IDA D RGD:5147913|PMID:20860016 20120321 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:1876 sexual dysfunction ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18726914 628641 Ptger4 prostaglandin E receptor 4 gene DOID:224 transient cerebral ischemia IEP D RGD:10043375|PMID:16437207 20150526 RGD protein:increased expression:hippocampus (rat) 628641 Ptger4 prostaglandin E receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:736498 D RGD:1581284|PMID:16020747 19990101 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:289 endometriosis ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 628641 Ptger4 prostaglandin E receptor 4 gene DOID:3021 acute kidney failure treatment IMP D RGD:10003092|PMID:16871242 20150501 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:732089 D RGD:6483518|PMID:22570740 20120523 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:736498 D RGD:6483518|PMID:22570740 20120523 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:5119 ovarian cyst ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 628641 Ptger4 prostaglandin E receptor 4 gene DOID:630 genetic disease ISO RGD:736498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628641 Ptger4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 628641 Ptger4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:6483530|PMID:21743469 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:783 end stage renal disease treatment IMP D RGD:10003092|PMID:16871242 20150501 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:820 myocarditis resistance IMP D RGD:6483535|PMID:21383594 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:736498 D RGD:6483532|PMID:21818367 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9000099 Experimental Colitis treatment IMP D RGD:727388|PMID:12100473 20150526 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9001048 Nociceptive Pain IMP D RGD:6483537|PMID:21371033 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9001341 Chloracne ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:10003041|PMID:20423341 20150430 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis disease_progression IEP D RGD:10043377|PMID:11207665 20150601 RGD mRNA:increased expression:tarsal joint, synovium (rat) 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:10003052|PMID:18287210 20150430 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:732089 D RGD:10003041|PMID:20423341 20150430 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9002910 Hearing Loss, Noise-Induced resistance ISO RGD:732089 D RGD:6483524|PMID:22198478 20120524 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9004914 Postmenopausal Osteoporosis treatment IMP D RGD:10003045|PMID:11917107 20150430 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation ISO RGD:736498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation treatment IMP D RGD:10043613|PMID:18498708 20150527 RGD associated with Arthritis, Experimental 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9005930 Endotoxemia IEP D RGD:10043329|PMID:11058222 20150521 RGD protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat) 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9006024 Hypotension IDA D RGD:1581283|PMID:15201706 19990101 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9006937 NSAID-Enteropathy treatment IMP D RGD:10003093|PMID:11991626 20150610 RGD 628641 Ptger4 prostaglandin E receptor 4 gene DOID:9007096 Stroke ISO RGD:732089 D RGD:6483526|PMID:21965326 20120524 RGD 628642 Nmt1 N-myristoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1352076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628644 Bcas1 brain enriched myelin associated protein 1 gene DOID:630 genetic disease ISO RGD:1351231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628644 Bcas1 brain enriched myelin associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 628644 Bcas1 brain enriched myelin associated protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1351231 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 628645 Brs3 bombesin receptor subtype 3 gene DOID:0060022 CD40 ligand deficiency ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 628645 Brs3 bombesin receptor subtype 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733512 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 628645 Brs3 bombesin receptor subtype 3 gene DOID:0060825 Christianson syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 628645 Brs3 bombesin receptor subtype 3 gene DOID:10763 hypertension ISO RGD:733513 D RGD:734661|PMID:9367152 19990101 RGD 628645 Brs3 bombesin receptor subtype 3 gene DOID:12849 autistic disorder ISO RGD:733512 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628645 Brs3 bombesin receptor subtype 3 gene DOID:630 genetic disease ISO RGD:733512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628645 Brs3 bombesin receptor subtype 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 628645 Brs3 bombesin receptor subtype 3 gene DOID:9002916 Hyperphagia ISO RGD:733513 D RGD:734661|PMID:9367152 19990101 RGD 628645 Brs3 bombesin receptor subtype 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 628645 Brs3 bombesin receptor subtype 3 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:733512 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 628645 Brs3 bombesin receptor subtype 3 gene DOID:9970 obesity ISO RGD:733513 D RGD:734661|PMID:9367152 19990101 RGD 628646 Krt20 keratin 20 gene DOID:299 adenocarcinoma ISO RGD:1347381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 628646 Krt20 keratin 20 gene DOID:630 genetic disease ISO RGD:1347381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628646 Krt20 keratin 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 628646 Krt20 keratin 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347381 D RGD:2317676|PMID:10931219 20100415 RGD associated with Colorectal Neoplasms 628646 Krt20 keratin 20 gene DOID:9003694 Cecal Neoplasms ISO RGD:1347381 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 628646 Krt20 keratin 20 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347381 D RGD:151356994|PMID:23322277 20220222 RGD 628647 Ppp1r17 protein phosphatase 1, regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia ISO RGD:1344493 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 628647 Ppp1r17 protein phosphatase 1, regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia susceptibility ISO RGD:1344493 D RGD:7240710 20230505 OMIM 628647 Ppp1r17 protein phosphatase 1, regulatory subunit 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344493 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628647 Ppp1r17 protein phosphatase 1, regulatory subunit 17 gene DOID:630 genetic disease ISO RGD:1344493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628647 Ppp1r17 protein phosphatase 1, regulatory subunit 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1344493 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:12955585 628649 Mc2r melanocortin 2 receptor gene DOID:0050562 West syndrome ISO RGD:1348934 D RGD:6484693|PMID:19024088 20120702 RGD DNA:snps:promoter:multiple (human) 628649 Mc2r melanocortin 2 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348934 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 628649 Mc2r melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:7240710 20131030 OMIM 628649 Mc2r melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:10443676|PMID:12213892|PMID:14960026|PMID:16271481|PMID:17128565|PMID:17223989|PMID:18059087|PMID:18407210|PMID:18492762|PMID:18504396|PMID:18840636|PMID:19170705|PMID:19558534|PMID:21932602|PMID:25741868|PMID:26650942|PMID:28492532|PMID:34258490|PMID:7829641|PMID:8069303|PMID:8094489|PMID:8227361|PMID:8250922|PMID:8636348|PMID:9758716 628649 Mc2r melanocortin 2 receptor gene DOID:1059 intellectual disability ISO RGD:1348934 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628649 Mc2r melanocortin 2 receptor gene DOID:10763 hypertension ISO RGD:1348934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11082157 628649 Mc2r melanocortin 2 receptor gene DOID:14115 toxic shock syndrome IEP D RGD:6484558|PMID:2822467 20120626 RGD protein:increased expression:liver (rat) 628649 Mc2r melanocortin 2 receptor gene DOID:630 genetic disease ISO RGD:1348934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628649 Mc2r melanocortin 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 628649 Mc2r melanocortin 2 receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:6484138|PMID:22183812 20120612 RGD mRNA:increased expression:liver (rat) 628649 Mc2r melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:1600745|PMID:8094489 20070326 RGD Familial glucocoritcoid deficiency (ACTH resistance), OMIM:202200 628649 Mc2r melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:1600747|PMID:12213892 20070326 RGD Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200 628649 Mc2r melanocortin 2 receptor gene DOID:9007480 Hyperoxia ISO RGD:1553230 D RGD:6484136|PMID:8110467 20120626 RGD mRNA:increased expression:lung (mouse) 628650 Slc24a2 solute carrier family 24 member 2 gene DOID:630 genetic disease ISO RGD:730928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628651 Gm2a ganglioside GM2 activator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628651 Gm2a ganglioside GM2 activator gene DOID:1289 neurodegenerative disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy PMID:25558065|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446 628651 Gm2a ganglioside GM2 activator gene DOID:3320 Tay-Sachs disease ISO RGD:1353976 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease 628651 Gm2a ganglioside GM2 activator gene DOID:3321 GM2 gangliosidosis ISO RGD:1353976 D RGD:1598993|PMID:10364519 20070110 RGD Tay-Sachs Disease, AB Variant 628651 Gm2a ganglioside GM2 activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:7240710 20130221 OMIM 628651 Gm2a ganglioside GM2 activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10364519|PMID:1570834|PMID:174379|PMID:17576681|PMID:1915858|PMID:24767253|PMID:25558065|PMID:25741868|PMID:26082327|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446|PMID:8244332|PMID:8900233|PMID:9536098 628651 Gm2a ganglioside GM2 activator gene DOID:630 genetic disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628651 Gm2a ganglioside GM2 activator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628652 Pcyox1 prenylcysteine oxidase 1 gene DOID:630 genetic disease ISO RGD:1350972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628652 Pcyox1 prenylcysteine oxidase 1 gene DOID:9004657 Weight Gain ISO RGD:1350972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 628654 Zfp394 zinc finger protein 394 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354133 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628654 Zfp394 zinc finger protein 394 gene DOID:630 genetic disease ISO RGD:1354133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628655 S100a10 S100 calcium binding protein A10 gene DOID:0050902 medulloblastoma ISO RGD:733247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 628655 S100a10 S100 calcium binding protein A10 gene DOID:0111940 immunodeficiency 42 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 628655 S100a10 S100 calcium binding protein A10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 628655 S100a10 S100 calcium binding protein A10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 628655 S100a10 S100 calcium binding protein A10 gene DOID:1540 parathyroid carcinoma ISO RGD:733247 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628655 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder IDA D RGD:9588311|PMID:21682946 20141028 RGD DNA:hypermethylated:promoter: 628655 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder IEP D RGD:9588311|PMID:21682946 20141028 RGD mRNA,protein:decreased expression:prefrontal cortex: 628655 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:733247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 628655 S100a10 S100 calcium binding protein A10 gene DOID:5812 MHC class II deficiency ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 628655 S100a10 S100 calcium binding protein A10 gene DOID:630 genetic disease ISO RGD:733247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628655 S100a10 S100 calcium binding protein A10 gene DOID:9000058 Keloid ISO RGD:733247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 628655 S100a10 S100 calcium binding protein A10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628655 S100a10 S100 calcium binding protein A10 gene DOID:9006205 Animal Disease Models ISO RGD:733247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 628655 S100a10 S100 calcium binding protein A10 gene DOID:9119 acute myeloid leukemia ISO RGD:733247 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 628655 S100a10 S100 calcium binding protein A10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733247 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628656 Has3 hyaluronan synthase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 628656 Has3 hyaluronan synthase 3 gene DOID:630 genetic disease ISO RGD:1350380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628656 Has3 hyaluronan synthase 3 gene DOID:6432 pulmonary hypertension IEP D RGD:9588633|PMID:19915162 20141103 RGD mRNA:decreased expression:lung 628656 Has3 hyaluronan synthase 3 gene DOID:9452 fatty liver disease ISO RGD:1350380 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27042213 628657 Spata6 spermatogenesis associated 6 gene DOID:630 genetic disease ISO RGD:732866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628658 Bmf Bcl2 modifying factor gene DOID:2717 Bloom syndrome ISO RGD:1342866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628658 Bmf Bcl2 modifying factor gene DOID:630 genetic disease ISO RGD:1342866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628658 Bmf Bcl2 modifying factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628658 Bmf Bcl2 modifying factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 628658 Bmf Bcl2 modifying factor gene DOID:9256 colorectal cancer ISO RGD:1342866 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628659 Nrxn1 neurexin 1 gene DOID:0060041 autism spectrum disorder IMP D RGD:12914797|PMID:25420124 20170713 RGD 628659 Nrxn1 neurexin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 628659 Nrxn1 neurexin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734185 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 628659 Nrxn1 neurexin 1 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19896112 628659 Nrxn1 neurexin 1 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:734185 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:28492532|PMID:29924869 628659 Nrxn1 neurexin 1 gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:28492532 628659 Nrxn1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:16199547|PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20347009|PMID:20468056|PMID:20848651|PMID:21288692|PMID:21424692|PMID:21681106|PMID:21827697|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22617343|PMID:23207424|PMID:23472757|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24832020|PMID:2504536|PMID:25149956|PMID:25326635|PMID:25408897|PMID:25418537|PMID:25533962|PMID:25614873|PMID:25640679|PMID:25661985|PMID:25741868|PMID:26185613|PMID:26325558|PMID:26350204|PMID:26467025|PMID:26742492|PMID:27195815|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:30709877|PMID:32942984|PMID:33004838|PMID:9536098 628659 Nrxn1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 susceptibility ISO RGD:734185 D RGD:7240710 20230517 OMIM 628659 Nrxn1 neurexin 1 gene DOID:1059 intellectual disability ISO RGD:734185 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:18057082|PMID:28191889 628659 Nrxn1 neurexin 1 gene DOID:1059 intellectual disability ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532 628659 Nrxn1 neurexin 1 gene DOID:12849 autistic disorder ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17322880|PMID:18057082|PMID:18621663|PMID:20157312 628659 Nrxn1 neurexin 1 gene DOID:12849 autistic disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 628659 Nrxn1 neurexin 1 gene DOID:224 transient cerebral ischemia IEP D RGD:632385|PMID:12437578 20091116 RGD associated with Hypertension;mRNA:decreased expression:cerebral cortex 628659 Nrxn1 neurexin 1 gene DOID:5419 schizophrenia ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20157312|PMID:21285140|PMID:21424692 628659 Nrxn1 neurexin 1 gene DOID:5419 schizophrenia ISO RGD:734185 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628659 Nrxn1 neurexin 1 gene DOID:630 genetic disease ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20468056|PMID:21288692|PMID:21424692|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22892527|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24064682|PMID:24832020|PMID:25149956|PMID:25418537|PMID:25533962|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:32942984|PMID:33004838|PMID:9536098 628659 Nrxn1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome PMID:18179900|PMID:18945720|PMID:21681106|PMID:23495017|PMID:25741868|PMID:28492532 628659 Nrxn1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME susceptibility ISO RGD:734185 D RGD:7240710 20230517 OMIM 628659 Nrxn1 neurexin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734185 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628659 Nrxn1 neurexin 1 gene DOID:9005466 Language Development Disorders ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20157312 628659 Nrxn1 neurexin 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 628659 Nrxn1 neurexin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734185 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 628659 Nrxn1 neurexin 1 gene DOID:9009160 SCHIZOPHRENIA 17 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 17 PMID:21424692 628659 Nrxn1 neurexin 1 gene DOID:9970 obesity ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 628660 Slco1c1 solute carrier organic anion transporter family, member 1c1 gene DOID:0060041 autism spectrum disorder ISO RGD:731528 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628660 Slco1c1 solute carrier organic anion transporter family, member 1c1 gene DOID:12236 primary biliary cholangitis IEP D RGD:14700810|PMID:15770136 20190820 RGD protein:decreased expression:liver 628660 Slco1c1 solute carrier organic anion transporter family, member 1c1 gene DOID:630 genetic disease ISO RGD:731528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628661 Abca5 ATP binding cassette subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1300038 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24831815 628661 Abca5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:7240710 20190315 OMIM 628661 Abca5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis PMID:24831815|PMID:25741868 628661 Abca5 ATP binding cassette subfamily A member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1300038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353558 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1353558 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:7240710 20140911 OMIM 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 8 PMID:23312594|PMID:23591992|PMID:24777706|PMID:25741868|PMID:26995144|PMID:27717089|PMID:28492532 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome PMID:25741868|PMID:28590501 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:10629 microphthalmia ISO RGD:1353558 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:12849 autistic disorder ISO RGD:1353558 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Autism 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:1909 melanoma ISO RGD:1353558 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:630 genetic disease ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 628662 Aldh1a3 aldehyde dehydrogenase 1 family, member A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353558 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628663 Slc15a3 solute carrier family 15 member 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 628663 Slc15a3 solute carrier family 15 member 3 gene DOID:1059 intellectual disability ISO RGD:1348958 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628663 Slc15a3 solute carrier family 15 member 3 gene DOID:630 genetic disease ISO RGD:1348958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628663 Slc15a3 solute carrier family 15 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628664 Slc6a15 solute carrier family 6 member 15 gene DOID:630 genetic disease ISO RGD:735866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628665 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1348413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 628665 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0111988 immunodeficiency 12 ISO RGD:1348413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 628665 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1348413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:0060041 autism spectrum disorder ISO RGD:1351086 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:1351086 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:585 nephrolithiasis ISO RGD:1351086 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:630 genetic disease ISO RGD:1351086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628666 Slc25a25 solute carrier family 25 member 25 gene DOID:9002189 High Myopia ISO RGD:1351086 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 628667 Cenpf centromere protein F gene DOID:0080600 COVID-19 ISO RGD:1352971 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628667 Cenpf centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:7240710 20190315 OMIM 628667 Cenpf centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868|PMID:25741878|PMID:26820108|PMID:28407396|PMID:28492532|PMID:8261651 628667 Cenpf centromere protein F gene DOID:10907 microcephaly ISO RGD:1352971 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 628667 Cenpf centromere protein F gene DOID:12930 dilated cardiomyopathy ISS RGD:1623040 D RGD:13592920 20180518 MouseDO 628667 Cenpf centromere protein F gene DOID:1540 parathyroid carcinoma ISO RGD:1352971 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628667 Cenpf centromere protein F gene DOID:630 genetic disease ISO RGD:1352971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628667 Cenpf centromere protein F gene DOID:684 hepatocellular carcinoma ISO RGD:1352971 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 628667 Cenpf centromere protein F gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352971 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 628667 Cenpf centromere protein F gene DOID:9008939 Breast Neoplasms ISO RGD:1352971 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 628667 Cenpf centromere protein F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352971 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628667 Cenpf centromere protein F gene DOID:9266 cystinuria ISO RGD:1352971 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 628668 Mbnl1 muscleblind-like splicing regulator 1 gene DOID:450 myotonic disease ISS RGD:1552938 D RGD:13592920 20180518 MouseDO 628668 Mbnl1 muscleblind-like splicing regulator 1 gene DOID:5419 schizophrenia ISO RGD:1606580 D RGD:10041058|PMID:17464717 20150511 RGD mRNA:increased expression:Brodmann (1909) area 46 628668 Mbnl1 muscleblind-like splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1606580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628668 Mbnl1 muscleblind-like splicing regulator 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606580 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 628668 Mbnl1 muscleblind-like splicing regulator 1 gene DOID:9008993 Myotonia ISO RGD:1606580 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:24039817 628670 Ppif peptidylprolyl isomerase F gene DOID:0080600 COVID-19 ISO RGD:1354243 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 628670 Ppif peptidylprolyl isomerase F gene DOID:5295 intestinal disease ISO RGD:1354243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 628670 Ppif peptidylprolyl isomerase F gene DOID:630 genetic disease ISO RGD:1354243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628670 Ppif peptidylprolyl isomerase F gene DOID:9005175 Ulcer ISO RGD:1354243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 628671 Zwint ZW10 interacting kinetochore protein gene DOID:0080600 COVID-19 ISO RGD:1347195 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628671 Zwint ZW10 interacting kinetochore protein gene DOID:630 genetic disease ISO RGD:1347195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628671 Zwint ZW10 interacting kinetochore protein gene DOID:684 hepatocellular carcinoma ISO RGD:1347195 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 628672 Olfm3 olfactomedin 3 gene DOID:1826 epilepsy ISO RGD:735294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 628672 Olfm3 olfactomedin 3 gene DOID:540 strabismus ISO RGD:735294 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Strabismus, susceptibility to 628672 Olfm3 olfactomedin 3 gene DOID:630 genetic disease ISO RGD:735294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:731052 D RGD:10400890|PMID:21220706 20150922 RGD 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:7240710 20190904 OMIM 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy PMID:16199547|PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28373485|PMID:28492532|PMID:29604290|PMID:30237576|PMID:31778854|PMID:33607125 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:1184 nephrotic syndrome IEP D RGD:10400845|PMID:15200432 20150917 RGD mRNA,protein:increased expression:liver: 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:13250 diarrhea ISO RGD:731052 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:4621 holoprosencephaly ISO RGD:731052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:731053 D RGD:10400849|PMID:18000880 20150918 RGD associated with Non-alcoholic Fatty Liver Disease; 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28492532 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:784 chronic kidney disease IEP D RGD:10400847|PMID:23045433 20150917 RGD protein:decreased expression:liver: 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:731053 D RGD:10401058|PMID:18183944 20150923 RGD 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:731053 D RGD:10401057|PMID:21990351 20150923 RGD 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9008550 Vitamin A Deficiency IEP D RGD:13782261|PMID:17047345 20180829 RGD mRNA:increased expression:aorta 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity ISO RGD:731053 D RGD:734536|PMID:10802663 19990101 RGD 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity no_association ISO RGD:731052 D RGD:1625597|PMID:14569040 20070614 RGD 628673 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity treatment ISO RGD:731053 D RGD:10401058|PMID:18183944 20150923 RGD 628674 Zfp597 zinc finger protein 597 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 628674 Zfp597 zinc finger protein 597 gene DOID:1826 epilepsy ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 628674 Zfp597 zinc finger protein 597 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351139 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 628674 Zfp597 zinc finger protein 597 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 628674 Zfp597 zinc finger protein 597 gene DOID:630 genetic disease ISO RGD:1351139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628675 Mapk15 mitogen-activated protein kinase 15 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 628675 Mapk15 mitogen-activated protein kinase 15 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 628675 Mapk15 mitogen-activated protein kinase 15 gene DOID:11054 urinary bladder cancer ISO RGD:1604966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 628675 Mapk15 mitogen-activated protein kinase 15 gene DOID:1612 breast cancer disease_progression ISO RGD:1604966 D RGD:2304230|PMID:12917323 20110720 RGD protein:decreased expression:tumor (human) 628675 Mapk15 mitogen-activated protein kinase 15 gene DOID:4621 holoprosencephaly ISO RGD:1604966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 628675 Mapk15 mitogen-activated protein kinase 15 gene DOID:630 genetic disease ISO RGD:1604966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628676 Ppm1g protein phosphatase, Mg2+/Mn2+ dependent, 1G gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 628676 Ppm1g protein phosphatase, Mg2+/Mn2+ dependent, 1G gene DOID:5419 schizophrenia ISS RGD:732735 D RGD:13592920 20180518 MouseDO OMIM:181500 628676 Ppm1g protein phosphatase, Mg2+/Mn2+ dependent, 1G gene DOID:630 genetic disease ISO RGD:732734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628677 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:630 genetic disease ISO RGD:734029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628678 F7 coagulation factor VII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345586 D RGD:11565081|PMID:9129025 20161118 RGD 628678 F7 coagulation factor VII gene DOID:10763 hypertension IEP D RGD:2312323|PMID:812575 20090805 RGD protein:increased activity:plasma (rat) 628678 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:2312402|PMID:10450539 20090811 RGD 628678 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:2312412|PMID:8123879 20090811 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:11247 disseminated intravascular coagulation ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16159073 628678 F7 coagulation factor VII gene DOID:1168 familial hyperlipidemia IEP D RGD:2312300|PMID:11776312 20090805 RGD protein:increased expression:plasma (rat) 628678 F7 coagulation factor VII gene DOID:1247 blood coagulation disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:25741868|PMID:28492532|PMID:31064749|PMID:8844208 628678 F7 coagulation factor VII gene DOID:1459 hypothyroidism IEP D RGD:2312322|PMID:989968 20090805 RGD protein:increased expression:plasma (rat) 628678 F7 coagulation factor VII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345586 D RGD:11565081|PMID:9129025 20161118 RGD 628678 F7 coagulation factor VII gene DOID:1588 thrombocytopenia treatment ISO RGD:1345586 D RGD:11049531|PMID:19175492 20160407 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:1612 breast cancer ISO RGD:1345586 D RGD:11049547|PMID:19996301 20160121 RGD mRNA:increased expression:breast (human) 628678 F7 coagulation factor VII gene DOID:2213 hemorrhagic disease ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16706976 628678 F7 coagulation factor VII gene DOID:2213 hemorrhagic disease ISO RGD:1345586 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10862079|PMID:11092214|PMID:11931672|PMID:14521598|PMID:15456489|PMID:15735798|PMID:15741795|PMID:18282149|PMID:18976247|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:7919338|PMID:7981691 628678 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:11049524|PMID:26083983 20160407 RGD DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human) 628678 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20885134 628678 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:1601133|PMID:1634227 20070409 RGD DNA:missense:R304Q, C310F 628678 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency PMID:10554827|PMID:10739380|PMID:10862079|PMID:10959697|PMID:10984565|PMID:11091194|PMID:11092214|PMID:11110717|PMID:11129332|PMID:11139238|PMID:11225604|PMID:11260055|PMID:11313743|PMID:11529858|PMID:11931672|PMID:12181036|PMID:12472587|PMID:12632035|PMID:12903033|PMID:12935978|PMID:14521598|PMID:14717781|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:19751712|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21287501|PMID:21902896|PMID:22180436|PMID:22327826|PMID:22873696|PMID:23358202|PMID:24033266|PMID:24533960|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25863091|PMID:25952977|PMID:26105150|PMID:27227566|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29246447|PMID:29618153|PMID:30208845|PMID:31064749|PMID:31273093|PMID:32333443|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7974346|PMID:7981691|PMID:8242057|PMID:8244334|PMID:8364544|PMID:8652821|PMID:8883260|PMID:8940045|PMID:8978290|PMID:9414278|PMID:9576180|PMID:9716591 628678 F7 coagulation factor VII gene DOID:2215 factor VII deficiency susceptibility ISO RGD:1345586 D RGD:7240710 20230505 OMIM 628678 F7 coagulation factor VII gene DOID:2222 factor X deficiency ISO RGD:1345586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:10984565|PMID:12181036|PMID:25741868|PMID:34355501 628678 F7 coagulation factor VII gene DOID:2235 prothrombin deficiency IEP D RGD:2312318|PMID:2810399 20090805 RGD protein:decreased expression:plasma (rat) 628678 F7 coagulation factor VII gene DOID:2349 arteriosclerosis severity ISO RGD:1345586 D RGD:2312403|PMID:9569183 20090811 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:2394 ovarian cancer ISO RGD:1345586 D RGD:11049516|PMID:19904262 20160407 RGD protein:increased expression:ovarian surface epithelium (human) 628678 F7 coagulation factor VII gene DOID:2741 bilirubin metabolic disorder IEP D RGD:1304286|PMID:14724430 20090805 RGD protein:decreased expression:serum (rat) 628678 F7 coagulation factor VII gene DOID:2841 asthma treatment IDA D RGD:11040539|PMID:24523826 20160325 RGD 628678 F7 coagulation factor VII gene DOID:2913 acute pancreatitis treatment ISO RGD:1345586 D RGD:11049543|PMID:17506000 20160408 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:2312397|PMID:11334615 20090811 RGD DNA:polymorphisms:cds:R353Q (human) 628678 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:2312400|PMID:10599031 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:2312408|PMID:8522401 20090811 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:3526 cerebral infarction ISO RGD:1345586 D RGD:11049518|PMID:14733777 20160407 RGD protein:increased expression, increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:3526 cerebral infarction treatment ISO RGD:1345586 D RGD:11049520|PMID:21998055 20160407 RGD human protein in a mouse model 628678 F7 coagulation factor VII gene DOID:4195 hyperglycemia ISO RGD:1345586 D RGD:2312413|PMID:3240844 20090811 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:557 kidney disease ISO RGD:1345586 D RGD:2312390|PMID:15608477 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:576 proteinuria ISO RGD:1345586 D RGD:2312414|PMID:509177 20090811 RGD associated with Diabetes Mellitus; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 628678 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:1580374|PMID:16116695 19990101 RGD 628678 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:2312409|PMID:7495060 20090811 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10554827|PMID:10862079|PMID:10984565|PMID:11092214|PMID:11129332|PMID:11931672|PMID:12181036|PMID:12903033|PMID:12935978|PMID:14521598|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21902896|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25952977|PMID:26105150|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7981691|PMID:8242057|PMID:8883260 628678 F7 coagulation factor VII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345586 D RGD:11049521|PMID:9420338 20160407 RGD DNA:missense mutation, repeat:cds, intron:p.R353Q, (human) 628678 F7 coagulation factor VII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345586 D RGD:7240710 20190502 OMIM 628678 F7 coagulation factor VII gene DOID:630 genetic disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 628678 F7 coagulation factor VII gene DOID:8805 intermediate coronary syndrome ISO RGD:1345586 D RGD:2312399|PMID:10653827 20090811 RGD protein:increased expression:plasma (human) 628678 F7 coagulation factor VII gene DOID:8947 diabetic retinopathy ISO RGD:1345586 D RGD:2312398|PMID:10837382 20090811 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9000363 Hematuria ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17133240 628678 F7 coagulation factor VII gene DOID:9000790 Postoperative Complications ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12707733 628678 F7 coagulation factor VII gene DOID:9001044 Choroidal Neovascularization ISO RGD:731512 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:19357351|REF_RGD_ID:2312299 628678 F7 coagulation factor VII gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731512 D RGD:2312299|PMID:19357351 20090805 RGD mouse protein in a rat model 628678 F7 coagulation factor VII gene DOID:9001542 Albuminuria ISO RGD:1345586 D RGD:2312410|PMID:8458188 20090811 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9001542 Albuminuria no_association ISO RGD:1345586 D RGD:2312407|PMID:8250495 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9001542 Albuminuria severity ISO RGD:1345586 D RGD:2312406|PMID:9187410 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:1345586 D RGD:11049508|PMID:12095034 20160407 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:9002557 Inherited Blood Coagulation Disease treatment ISO RGD:1345586 D RGD:11041654|PMID:10469179 20160325 RGD 628678 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16671457|PMID:21127298 628678 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1345586 D RGD:11049545|PMID:16671457 20160408 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15595332|PMID:16159073|PMID:18617125|PMID:20172985|PMID:20522813 628678 F7 coagulation factor VII gene DOID:9003121 Thromboembolism ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20172985 628678 F7 coagulation factor VII gene DOID:9003356 Extrahepatic Portal Vein Obstruction IEP D RGD:2312312|PMID:17660074 20090805 RGD mRNA:altered expression:liver (rat) 628678 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment IMP D RGD:11041657|PMID:12714830 20160325 RGD 628678 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1345586 D RGD:11049507|PMID:11167855 20160407 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 628678 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis treatment IMP D RGD:11041650|PMID:16378835 20160325 RGD 628678 F7 coagulation factor VII gene DOID:9004484 Sepsis IEP D RGD:2312320|PMID:3660344 20090805 RGD protein:decreased activity:plasma (rat) 628678 F7 coagulation factor VII gene DOID:9004484 Sepsis treatment IDA D RGD:1598921|PMID:12000738 20090805 RGD 628678 F7 coagulation factor VII gene DOID:9004562 Smoke Inhalation Injury IEP D RGD:2312315|PMID:15204765 20090805 RGD protein:decreased expression:serum (rat) 628678 F7 coagulation factor VII gene DOID:9004590 Acute Liver Failure ISO RGD:1345586 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 628678 F7 coagulation factor VII gene DOID:9005269 Stable Angina ISO RGD:1345586 D RGD:11049525|PMID:17357481 20160407 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2312396|PMID:11474472 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312313|PMID:16779662 20090805 RGD protein:decreased activity:plasma (rat) 628678 F7 coagulation factor VII gene DOID:9005930 Endotoxemia IEP D RGD:7394782|PMID:11092686 20160121 RGD 628678 F7 coagulation factor VII gene DOID:9005930 Endotoxemia treatment ISO RGD:731512 D RGD:11041650|PMID:16378835 20160325 RGD 628678 F7 coagulation factor VII gene DOID:9006205 Animal Disease Models ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21127298 628678 F7 coagulation factor VII gene DOID:9006493 Glandular and Epithelial Neoplasms IEP D RGD:2312392|PMID:2716922 20090811 RGD protein:altered activity:plasma (rat) 628678 F7 coagulation factor VII gene DOID:9006599 Hypertriglyceridemia ISO RGD:1345586 D RGD:2312379|PMID:19329212 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9007622 Acute Subdural Hematoma ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12503044 628678 F7 coagulation factor VII gene DOID:9007692 Insulin Resistance severity ISO RGD:1345586 D RGD:2312406|PMID:9187410 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1345586 D RGD:11041662|PMID:22920553 20160325 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:9008217 Hemorrhage ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12707733|PMID:12851533|PMID:16553518 628678 F7 coagulation factor VII gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1345586 D RGD:11049522|PMID:22166631 20160407 RGD protein:increased expression:colorectal mucosa (human) 628678 F7 coagulation factor VII gene DOID:9008598 Traumatic Intracranial Hemorrhage ISO RGD:1345586 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20370756 628678 F7 coagulation factor VII gene DOID:9256 colorectal cancer ISO RGD:1345586 D RGD:11049532|PMID:19062044 20160407 RGD human protein in a rat model 628678 F7 coagulation factor VII gene DOID:9351 diabetes mellitus IDA D RGD:2312393|PMID:10910004 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9351 diabetes mellitus IEP D RGD:1598920|PMID:10899350 20090811 RGD protein:increased activity:plasma (rat) 628678 F7 coagulation factor VII gene DOID:9351 diabetes mellitus no_association ISO RGD:1345586 D RGD:2312391|PMID:15258325 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus IDA D RGD:2312394|PMID:14614217 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:2312380|PMID:18000605 20090811 RGD associated with Brain Infarction; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:2312381|PMID:17785358 20090811 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:2312382|PMID:11689270 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:2312383|PMID:15860378 20090811 RGD associated with Kidney Failure; protein:increased expression:plasma (human) 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345586 D RGD:2312386|PMID:11137328 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345586 D RGD:2312388|PMID:10332679 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9743 diabetic neuropathy ISO RGD:1345586 D RGD:2312401|PMID:10468085 20090811 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human) 628678 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:2312383|PMID:15860378 20090811 RGD associated with Kidney Failure; protein:increased expression:plasma (human) 628678 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:2312384|PMID:11297753 20090811 RGD protein:increased activity, expression:plasma (human) 628678 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:2312385|PMID:11146704 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:2312389|PMID:9686915 20090811 RGD DNA:polymorphism:cds:R353Q (human) 628678 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:1625710|PMID:16739871 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:2312379|PMID:19329212 20090811 RGD protein:increased activity:plasma (human) 628678 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:2312395|PMID:14513073 20090811 RGD 628678 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:2312404|PMID:9258277 20090811 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 628680 Uxs1 UDP-glucuronate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:735996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628680 Uxs1 UDP-glucuronate decarboxylase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735996 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 628681 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 628681 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628681 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628681 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9004657 Weight Gain ISO RGD:736613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 628681 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:736613 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:3652 Leigh disease ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1348855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348855 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15091342 628682 Gpsm1 G-protein signaling modulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 628684 Acox2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:7240710 20190315 OMIM 628684 Acox2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 PMID:25741868|PMID:27647924|PMID:27884763|PMID:28492532 628684 Acox2 acyl-CoA oxidase 2 gene DOID:630 genetic disease ISO RGD:735528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628684 Acox2 acyl-CoA oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735528 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628684 Acox2 acyl-CoA oxidase 2 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:735528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 628685 Fbln2 fibulin 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1345931 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 628685 Fbln2 fibulin 2 gene DOID:630 genetic disease ISO RGD:1345931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628685 Fbln2 fibulin 2 gene DOID:9004657 Weight Gain ISO RGD:1345931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 628685 Fbln2 fibulin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345931 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 628686 Gpr3 G protein-coupled receptor 3 gene DOID:630 genetic disease ISO RGD:1350754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628688 Pdia6 protein disulfide isomerase family A, member 6 gene DOID:630 genetic disease ISO RGD:1354298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628689 Tmem37 transmembrane protein 37 gene DOID:305 carcinoma ISO RGD:1606154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 628689 Tmem37 transmembrane protein 37 gene DOID:630 genetic disease ISO RGD:1606154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628689 Tmem37 transmembrane protein 37 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1606154 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:14671 multiple intestinal atresia ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:24292712|PMID:25741868|PMID:28492532 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:1588 thrombocytopenia ISO RGD:1350244 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:2213 hemorrhagic disease ISO RGD:1350244 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:224 transient cerebral ischemia IEP D RGD:11062141|PMID:17610559 20160427 RGD mRNA:increased expression:hippocampus 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:3883 Lynch syndrome ISO RGD:1350244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1350244 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:630 genetic disease ISO RGD:1350244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:1350244 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: FMFD I PMID:12717434|PMID:13229969|PMID:25741868|PMID:31064749 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1350244 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:32581362 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:11062141|PMID:17610559 20160427 RGD DNA:missense mutation: :p.D122V (human) 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:7240710 20130221 OMIM 628690 Mcfd2 multiple coagulation factor deficiency 2 gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 PMID:12717434|PMID:13229969|PMID:18391077|PMID:25741868|PMID:31064749 628691 Cttnbp2 cortactin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353355 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 628691 Cttnbp2 cortactin binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1353355 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 628691 Cttnbp2 cortactin binding protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353355 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628691 Cttnbp2 cortactin binding protein 2 gene DOID:630 genetic disease ISO RGD:1353355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628691 Cttnbp2 cortactin binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353355 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 628692 Impa2 inositol monophosphatase 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347157 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 628692 Impa2 inositol monophosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1347157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628692 Impa2 inositol monophosphatase 2 gene DOID:289 endometriosis ISO RGD:1347157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 628692 Impa2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder ISO RGD:1347157 D RGD:6480265|PMID:9322233 20120320 RGD 628692 Impa2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder ISO RGD:1347157 D RGD:6480269|PMID:11673796 20120320 RGD 628692 Impa2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1347157 D RGD:6480267|PMID:14699425 20120320 RGD DNA:SNPs:promoter:-461C>T, -207T>C(human) 628692 Impa2 inositol monophosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1347157 D RGD:6480266|PMID:11317223 20120320 RGD DNA:polymorphisms:intron,exons:-15G>A, 58G>A, 800C>T (human) 628692 Impa2 inositol monophosphatase 2 gene DOID:543 dystonia ISO RGD:1347157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 628692 Impa2 inositol monophosphatase 2 gene DOID:630 genetic disease ISO RGD:1347157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628692 Impa2 inositol monophosphatase 2 gene DOID:9007956 Febrile Seizures ISO RGD:1347157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15557493 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1318462 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1318462 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9802331|PMID:22216111 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:7240710 20130221 OMIM 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19900398|PMID:20301473|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32482919|PMID:32488064|PMID:32709131|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33099109|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34303826|PMID:35892469|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1318462 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:25741868 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1318462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:11479732|PMID:25741868|PMID:28492532|PMID:30820861 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1059 intellectual disability ISO RGD:1318462 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:11077 brucellosis ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12183525 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:14504 Niemann-Pick disease ISS RGD:1553002 D RGD:13592920 20180518 MouseDO 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1826 epilepsy ISO RGD:1318462 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1936 atherosclerosis ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18483620 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:2725 capillary hemangioma ISO RGD:1318462 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:25741868 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:409 liver disease ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24901380 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:5082 liver cirrhosis ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22216111 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:539 ophthalmoplegia ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:543 dystonia ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26981555|PMID:28492532 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10480349|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12408188|PMID:12955717|PMID:14639697|PMID:15465421|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17044092|PMID:17160617|PMID:17576681|PMID:17989072|PMID:18216017|PMID:19252935|PMID:19563754|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:21245028|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23773996|PMID:23791518|PMID:24033266|PMID:24386122|PMID:24928400|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26255038|PMID:26666848|PMID:26790753|PMID:26939636|PMID:26981555|PMID:27193329|PMID:27238017|PMID:27250337|PMID:27923633|PMID:27928380|PMID:28105569|PMID:28130309|PMID:28193631|PMID:28222799|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30019023|PMID:30153451|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30665703|PMID:30820861|PMID:31130284|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32222928|PMID:32248828|PMID:32709131|PMID:32745579|PMID:32860008|PMID:33099109|PMID:33990640|PMID:9211849|PMID:9211850|PMID:9536098 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9001722 Dysarthria ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9002695 Cataplexy ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataplexy PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type D PMID:11333381|PMID:11545687|PMID:12401890|PMID:16126423|PMID:16778374|PMID:20301473|PMID:20718790|PMID:25741868|PMID:26666848|PMID:26984608|PMID:28222799|PMID:28492532|PMID:9245994|PMID:9634529 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9004866 Ataxia ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318462 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 628693 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9970 obesity ISO RGD:1318462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151714 628694 Zc3hav1 zinc finger CCCH-type containing, antiviral 1 gene DOID:0080690 RASopathy ISO RGD:736106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 628694 Zc3hav1 zinc finger CCCH-type containing, antiviral 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736106 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628694 Zc3hav1 zinc finger CCCH-type containing, antiviral 1 gene DOID:630 genetic disease ISO RGD:736106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628695 Rims4 regulating synaptic membrane exocytosis 4 gene DOID:2234 focal epilepsy ISO RGD:1350639 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 628695 Rims4 regulating synaptic membrane exocytosis 4 gene DOID:630 genetic disease ISO RGD:1350639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628695 Rims4 regulating synaptic membrane exocytosis 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 628696 Zfp689 zinc finger protein 689 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603925 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 628696 Zfp689 zinc finger protein 689 gene DOID:630 genetic disease ISO RGD:1603925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628697 Rpl13a ribosomal protein L13A gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1351312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 628697 Rpl13a ribosomal protein L13A gene DOID:3910 lung adenocarcinoma ISO RGD:1351312 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 628697 Rpl13a ribosomal protein L13A gene DOID:630 genetic disease ISO RGD:1351312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628697 Rpl13a ribosomal protein L13A gene DOID:9006205 Animal Disease Models ISO RGD:1351312 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 628698 Zfp709 zinc finger protein 709 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1345334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 628698 Zfp709 zinc finger protein 709 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1345334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 628698 Zfp709 zinc finger protein 709 gene DOID:0111254 glutaric acidemia I ISO RGD:1345334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 628698 Zfp709 zinc finger protein 709 gene DOID:3413 alpha-mannosidosis ISO RGD:1345334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 628698 Zfp709 zinc finger protein 709 gene DOID:630 genetic disease ISO RGD:1345334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628699 Hmga1 high mobility group AT-hook 1 gene DOID:0050553 JMP syndrome ISO RGD:1345409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 628699 Hmga1 high mobility group AT-hook 1 gene DOID:0060058 lymphoma ISS RGD:1553686 D RGD:13592920 20190221 MouseDO 628699 Hmga1 high mobility group AT-hook 1 gene DOID:1967 leiomyosarcoma ISO RGD:1345409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 628699 Hmga1 high mobility group AT-hook 1 gene DOID:363 uterine cancer ISS RGD:1553686 D RGD:13592920 20190221 MouseDO 628699 Hmga1 high mobility group AT-hook 1 gene DOID:4195 hyperglycemia ISO RGD:1345409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 628699 Hmga1 high mobility group AT-hook 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISS RGD:1553686 D RGD:13592920 20220616 MouseDO 628699 Hmga1 high mobility group AT-hook 1 gene DOID:630 genetic disease ISO RGD:1345409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628699 Hmga1 high mobility group AT-hook 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 628699 Hmga1 high mobility group AT-hook 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 628699 Hmga1 high mobility group AT-hook 1 gene DOID:9007692 Insulin Resistance ISO RGD:1345409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 628699 Hmga1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 628699 Hmga1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345409 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:15924147|PMID:21364139 628699 Hmga1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345409 D RGD:7240710 20230505 OMIM 628700 Fadd Fas associated via death domain gene DOID:0060108 brain glioma treatment IEP D RGD:13792502|PMID:27255231 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:0060482 oculoauricular syndrome ISO RGD:1345195 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 628700 Fadd Fas associated via death domain gene DOID:10003 sensorineural hearing loss ISO RGD:1345195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 628700 Fadd Fas associated via death domain gene DOID:1059 intellectual disability ISO RGD:1345195 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628700 Fadd Fas associated via death domain gene DOID:10652 Alzheimer's disease ISO RGD:1345195 D RGD:13782385|PMID:16085017 20180910 RGD 628700 Fadd Fas associated via death domain gene DOID:10763 hypertension treatment IEP D RGD:11344883|PMID:24355328 20160707 RGD 628700 Fadd Fas associated via death domain gene DOID:11132 prostatic hypertrophy treatment IDA D RGD:13792501|PMID:27441629 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:1240 leukemia ISO RGD:1345195 D RGD:11341800|PMID:22244917 20160706 RGD DNA:SNP: :rs7939734 (human) 628700 Fadd Fas associated via death domain gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment IEP D RGD:13792503|PMID:27131981 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:1596 depressive disorder treatment IEP D RGD:13792497|PMID:30138765 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:224 transient cerebral ischemia IEP D RGD:4142863|PMID:18096138 20220527 RGD mRNA,protein:increased expression:cerebral cortex: 628700 Fadd Fas associated via death domain gene DOID:2560 morphine dependence severity IDA D RGD:11341805|PMID:21088039 20160706 RGD 628700 Fadd Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:11344885|PMID:23378241 20160707 RGD 628700 Fadd Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:732106 D RGD:11341807|PMID:18950622 20160706 RGD 628700 Fadd Fas associated via death domain gene DOID:630 genetic disease ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628700 Fadd Fas associated via death domain gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:11344882|PMID:23574812 20160707 RGD 628700 Fadd Fas associated via death domain gene DOID:9000288 Chronic Intermittent Hypoxia treatment IEP D RGD:13792505|PMID:26769958 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16450001 628700 Fadd Fas associated via death domain gene DOID:9001349 Stomatognathic Diseases ISO RGD:1345195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 628700 Fadd Fas associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:8661760|PMID:23423194 20160707 RGD 628700 Fadd Fas associated via death domain gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:13782292|PMID:29635023 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:7240710 20140911 OMIM 628700 Fadd Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FADD DEFICIENCY | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:21109225|PMID:25326637|PMID:25794656|PMID:28492532|PMID:32350755 628700 Fadd Fas associated via death domain gene DOID:9004610 Acute Lung Injury treatment IEP D RGD:11341811|PMID:24122010 20160706 RGD associated with Shock, Hemorrhagic 628700 Fadd Fas associated via death domain gene DOID:9004786 Carbon Tetrachloride Poisoning treatment IEP D RGD:11341810|PMID:25687490 20160706 RGD 628700 Fadd Fas associated via death domain gene DOID:9006646 Metabolic Syndrome IEP D RGD:11344884|PMID:23657904 20160707 RGD protein:increased expression:heart left ventricle 628700 Fadd Fas associated via death domain gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:10053709|PMID:25447754 20160707 RGD 628700 Fadd Fas associated via death domain gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:11341803|PMID:26062544 20160706 RGD 628700 Fadd Fas associated via death domain gene DOID:9007480 Hyperoxia IDA D RGD:8662854|PMID:19107989 20160706 RGD protein:increased expression:thalamus 628700 Fadd Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732106 D RGD:11341801|PMID:26038570 20160706 RGD 628700 Fadd Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13792504|PMID:26948086 20180911 RGD 628700 Fadd Fas associated via death domain gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628700 Fadd Fas associated via death domain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 628700 Fadd Fas associated via death domain gene DOID:9009219 Diabetic Embryopathy ISO RGD:732106 D RGD:13792560|PMID:26419589 20180912 RGD 628700 Fadd Fas associated via death domain gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345195 D RGD:11341799|PMID:15520222 20160706 RGD 628700 Fadd Fas associated via death domain gene DOID:9970 obesity IEP D RGD:2293027|PMID:18202171 20160706 RGD protein:increased expression:heart left ventricle 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1603052 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603052 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:3070 high grade glioma ISO RGD:1603052 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603052 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:630 genetic disease ISO RGD:1603052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628701 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:870 neuropathy ISO RGD:1603052 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 628702 Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 628702 Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B gene DOID:1059 intellectual disability ISO RGD:1344402 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628702 Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B gene DOID:1909 melanoma ISO RGD:1344402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 628702 Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B gene DOID:3070 high grade glioma ISO RGD:1344402 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 628702 Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B gene DOID:630 genetic disease ISO RGD:1344402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628703 Baalc BAALC binder of MAP3K1 and KLF4 gene DOID:0111590 Cohen syndrome ISO RGD:736795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 628703 Baalc BAALC binder of MAP3K1 and KLF4 gene DOID:630 genetic disease ISO RGD:736795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628703 Baalc BAALC binder of MAP3K1 and KLF4 gene DOID:9119 acute myeloid leukemia ISO RGD:736795 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 628704 Il12b interleukin 12B gene DOID:0060859 salmonellosis susceptibility ISO RGD:1353629 D RGD:1600042|PMID:9854038 20070226 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 628704 Il12b interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:7240710 20170503 OMIM 628704 Il12b interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency PMID:11704807|PMID:11753820|PMID:17236132|PMID:17576681|PMID:18449199|PMID:22739501|PMID:23429356|PMID:23575353|PMID:24127073|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9854038 628704 Il12b interleukin 12B gene DOID:11168 anogenital venereal wart ISO RGD:1353629 D RGD:40400714|PMID:23754510 20201103 RGD protein:decreased expression:peripheral blood mononuclear cells (human) 628704 Il12b interleukin 12B gene DOID:11168 anogenital venereal wart treatment ISO RGD:1353629 D RGD:7829774|PMID:16114559 20140124 RGD 628704 Il12b interleukin 12B gene DOID:12236 primary biliary cholangitis ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 628704 Il12b interleukin 12B gene DOID:12385 shigellosis treatment ISO RGD:732857 D RGD:39938959|PMID:30615126 20201022 RGD 628704 Il12b interleukin 12B gene DOID:14453 farmer's lung ISO RGD:732857 D RGD:4145430|PMID:12084045 20101103 RGD 628704 Il12b interleukin 12B gene DOID:1790 malignant mesothelioma ISO RGD:1353629 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 628704 Il12b interleukin 12B gene DOID:2841 asthma ISO RGD:1353629 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:15322986 628704 Il12b interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:1600043|PMID:15322986 20070226 RGD DNA:polymorphisms:introns: 628704 Il12b interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:4145428|PMID:12241719 20101103 RGD DNA:polymorphism:promoter 628704 Il12b interleukin 12B gene DOID:2841 asthma susceptibility ISO RGD:1353629 D RGD:4145438|PMID:16210052 20101104 RGD DNA:polymorphisms:promoter, 3'utr: 628704 Il12b interleukin 12B gene DOID:3070 high grade glioma ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18176109 628704 Il12b interleukin 12B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353629 D RGD:4145423|PMID:19279357 20101103 RGD DNA:polymorphism: : 628704 Il12b interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12193738 628704 Il12b interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:4888529|PMID:20176803 20101123 RGD 628704 Il12b interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:4889581|PMID:18598692 20101207 RGD protein:increased expression:lung 628704 Il12b interleukin 12B gene DOID:630 genetic disease ISO RGD:1353629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628704 Il12b interleukin 12B gene DOID:7147 ankylosing spondylitis ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 628704 Il12b interleukin 12B gene DOID:8577 ulcerative colitis ISO RGD:1353629 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799|PMID:21297633 628704 Il12b interleukin 12B gene DOID:8778 Crohn's disease ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 628704 Il12b interleukin 12B gene DOID:8893 psoriasis ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:19169255|PMID:20953190 628704 Il12b interleukin 12B gene DOID:9001488 Human Influenza ISO RGD:732857 D RGD:4145426|PMID:16389596 20101103 RGD 628704 Il12b interleukin 12B gene DOID:9002170 Experimental Neoplasms ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17332360 628704 Il12b interleukin 12B gene DOID:9002395 Hypothermia ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 628704 Il12b interleukin 12B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:4831840|PMID:19233473 20101118 RGD mRNA, protein:increased expression:lymph node 628704 Il12b interleukin 12B gene DOID:9003281 Spontaneous Abortions ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 628704 Il12b interleukin 12B gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1353629 D RGD:14401721|PMID:15871664 20190515 RGD DNA:SNP:3' utr:+1188A>C (human) 628704 Il12b interleukin 12B gene DOID:9004484 Sepsis IDA D RGD:4888507|PMID:15776385 20101119 RGD protein:increased expression:peritoneal fluid, plasma 628704 Il12b interleukin 12B gene DOID:9004547 Thyroid Neoplasms ISO RGD:732857 D RGD:4145421|PMID:10848872 20101103 RGD 628704 Il12b interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1353629 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive 628704 Il12b interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1353629 D RGD:1600042|PMID:9854038 20070226 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 628704 Il12b interleukin 12B gene DOID:9005968 Neuralgia ISO RGD:1353629 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 628704 Il12b interleukin 12B gene DOID:9007188 Liver Neoplasms ISO RGD:1353629 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:17326190 628704 Il12b interleukin 12B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353629 D RGD:11554173 20230516 CTD CTD Direct Evidence: therapeutic PMID:36520315 628704 Il12b interleukin 12B gene DOID:9008 psoriatic arthritis ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953186 628704 Il12b interleukin 12B gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353629 D RGD:11074616|PMID:25469587 20190515 RGD DNA:SNP:3'utr: (rs3212227) 628704 Il12b interleukin 12B gene DOID:9074 systemic lupus erythematosus ISO RGD:1353629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:26808113 628705 Snx27 sorting nexin 27 gene DOID:0080422 Dravet syndrome ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098 628705 Snx27 sorting nexin 27 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 628705 Snx27 sorting nexin 27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 628705 Snx27 sorting nexin 27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 628705 Snx27 sorting nexin 27 gene DOID:1540 parathyroid carcinoma ISO RGD:1349647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628705 Snx27 sorting nexin 27 gene DOID:5812 MHC class II deficiency ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 628705 Snx27 sorting nexin 27 gene DOID:630 genetic disease ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628705 Snx27 sorting nexin 27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349647 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628706 Sfxn5 sideroflexin 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1343188 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 628706 Sfxn5 sideroflexin 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1343188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 628706 Sfxn5 sideroflexin 5 gene DOID:543 dystonia ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 628706 Sfxn5 sideroflexin 5 gene DOID:630 genetic disease ISO RGD:1343188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628706 Sfxn5 sideroflexin 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 628707 Zfand4 zinc finger AN1-type containing 4 gene DOID:630 genetic disease ISO RGD:1347960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628708 Zp4 zona pellucida glycoprotein 4 gene DOID:10283 prostate cancer ISO RGD:1345250 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 628708 Zp4 zona pellucida glycoprotein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345250 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628708 Zp4 zona pellucida glycoprotein 4 gene DOID:630 genetic disease ISO RGD:1345250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628708 Zp4 zona pellucida glycoprotein 4 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 628708 Zp4 zona pellucida glycoprotein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345250 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628709 Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 gene DOID:0060041 autism spectrum disorder ISO RGD:1350489 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628709 Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 gene DOID:2527 nephrosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:18725544 628709 Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350489 D RGD:8554872 20200901 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628709 Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 gene DOID:630 genetic disease ISO RGD:1350489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628709 Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350489 D RGD:11554173 20200901 CTD CTD Direct Evidence: marker/mechanism PMID:15894682 628710 Nalcn sodium leak channel, non-selective gene DOID:0060041 autism spectrum disorder ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 628710 Nalcn sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:7240710 20160720 OMIM 628710 Nalcn sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:26938784|PMID:27473021|PMID:27633718|PMID:27681385|PMID:28327206|PMID:28333917|PMID:28454995|PMID:28492532|PMID:30167850|PMID:32698188 628710 Nalcn sodium leak channel, non-selective gene DOID:0110878 holoprosencephaly 5 ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 628710 Nalcn sodium leak channel, non-selective gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733715 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:27214504|PMID:31680123 628710 Nalcn sodium leak channel, non-selective gene DOID:1059 intellectual disability ISO RGD:733715 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 628710 Nalcn sodium leak channel, non-selective gene DOID:14701 propionic acidemia ISO RGD:733715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 628710 Nalcn sodium leak channel, non-selective gene DOID:1826 epilepsy ISO RGD:733715 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26923739 628710 Nalcn sodium leak channel, non-selective gene DOID:630 genetic disease ISO RGD:733715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:27214504|PMID:27473021|PMID:28133733|PMID:28327206|PMID:28454995|PMID:28492532|PMID:29610177 628710 Nalcn sodium leak channel, non-selective gene DOID:9001769 Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis ISO RGD:733715 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 628710 Nalcn sodium leak channel, non-selective gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:733715 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 628710 Nalcn sodium leak channel, non-selective gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733715 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628710 Nalcn sodium leak channel, non-selective gene DOID:9006534 Nervous System Malformations ISO RGD:733715 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 628710 Nalcn sodium leak channel, non-selective gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:733715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:25741868 628710 Nalcn sodium leak channel, non-selective gene DOID:9008582 Developmental Disease ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 628710 Nalcn sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:12911215|PMID:23749988 20170712 RGD DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) 628710 Nalcn sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:12914762|PMID:24075186 20170712 RGD DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) 628710 Nalcn sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:7240710 20140911 OMIM 628710 Nalcn sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:23749988|PMID:24075186|PMID:25741868|PMID:28492532|PMID:29168298|PMID:29610177|PMID:30167850|PMID:30293248 628712 Zfp161 zinc finger protein 161 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345499 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 628712 Zfp161 zinc finger protein 161 gene DOID:1059 intellectual disability ISO RGD:1345499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628712 Zfp161 zinc finger protein 161 gene DOID:630 genetic disease ISO RGD:1345499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628713 Sbk1 SH3 domain binding kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 628713 Sbk1 SH3 domain binding kinase 1 gene DOID:630 genetic disease ISO RGD:1344532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628714 Cd86 CD86 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma IMP D RGD:6902938|PMID:10590132 20120925 RGD 628714 Cd86 CD86 molecule gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 628714 Cd86 CD86 molecule gene DOID:10124 corneal disease IEP D RGD:4892211|PMID:19907296 20110210 RGD protein:increased expression:corneal epithelium, Langerhans cell (rat) 628714 Cd86 CD86 molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604658 D RGD:11354975|PMID:23154584 20160801 RGD DNA:hypermethylation (human) 628714 Cd86 CD86 molecule gene DOID:11123 Henoch-Schoenlein purpura treatment ISO RGD:1604658 D RGD:11354986|PMID:27030970 20160802 RGD protein:increased expression:venous blood, B cell (human) 628714 Cd86 CD86 molecule gene DOID:12053 cryptococcosis ISO RGD:734336 D RGD:4892554|PMID:16790753 20110223 RGD protein:increased expression:lung, dendritic cell (mouse) 628714 Cd86 CD86 molecule gene DOID:12449 aplastic anemia ISO RGD:1604658 D RGD:11354968|PMID:21234821 20160801 RGD protein:increased expression:blood, dendritic cell (human) 628714 Cd86 CD86 molecule gene DOID:12842 Guillain-Barre syndrome ISS RGD:734336 D RGD:13592920 20180518 MouseDO OMIM:139393 628714 Cd86 CD86 molecule gene DOID:2123 tularemia ISO RGD:734336 D RGD:4892560|PMID:16272336 20110223 RGD protein:increased expression:lung, dendritic cell (mouse) 628714 Cd86 CD86 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604658 D RGD:11354964|PMID:26531698 20160801 RGD DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) 628714 Cd86 CD86 molecule gene DOID:2518 orchitis IEP D RGD:4892229|PMID:18381617 20110215 RGD protein:increased expression:testis, macrophage (rat) 628714 Cd86 CD86 molecule gene DOID:2773 contact dermatitis ISO RGD:1604658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 628714 Cd86 CD86 molecule gene DOID:2799 bronchiolitis obliterans IMP D RGD:2307206|PMID:11266944 20090521 RGD 628714 Cd86 CD86 molecule gene DOID:2841 asthma IEP D RGD:4892199|PMID:20668438 20110210 RGD protein:increased expression:lung, dendritic cell (rat) 628714 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:4892280|PMID:17513529 20110217 RGD DNA:snp:exon:p.I179V rs2681417 (human) 628714 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:4892555|PMID:9449507 20110223 RGD protein:increased expression:blood, B cell (human) 628714 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:4892202|PMID:9551945 20110210 RGD 628714 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:4892277|PMID:20941750 20110216 RGD protein:increased expression:lung, alveolar macrophage (mouse) 628714 Cd86 CD86 molecule gene DOID:2841 asthma treatment ISO RGD:734336 D RGD:11354965|PMID:25344652 20160801 RGD 628714 Cd86 CD86 molecule gene DOID:2917 cryoglobulinemia ISO RGD:1604658 D RGD:11354974|PMID:23840845 20160801 RGD associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) 628714 Cd86 CD86 molecule gene DOID:2942 bronchiolitis ISO RGD:734336 D RGD:4892291|PMID:20046053 20110217 RGD protein:decreased expression:myeloid dendritic cell (mouse) 628714 Cd86 CD86 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1604658 D RGD:4892339|PMID:17713660 20110222 RGD protein:decreased expression:sputum, macrophage (human) 628714 Cd86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604658 D RGD:4892292|PMID:19729666 20110217 RGD protein:increased expression:lung, myeloid dendritic cell (human) 628714 Cd86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1604658 D RGD:4891504|PMID:20732370 20110217 RGD DNA:polymorphism:cds:g.1057G>A rs1129055 (human) 628714 Cd86 CD86 molecule gene DOID:3525 middle cerebral artery infarction IEP D RGD:2313025|PMID:19053043 20110210 RGD protein:increased expression:brain subventricular zone, microglial cell (rat) 628714 Cd86 CD86 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:734336 D RGD:4892281|PMID:20395561 20110217 RGD protein:increased expression:lung, dendritic cell (mouse) 628714 Cd86 CD86 molecule gene DOID:399 tuberculosis ISO RGD:734336 D RGD:4892329|PMID:18292558 20110222 RGD protein:increased expression:lung (mouse) 628714 Cd86 CD86 molecule gene DOID:409 liver disease ISO RGD:1604658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 628714 Cd86 CD86 molecule gene DOID:418 systemic scleroderma ISO RGD:1604658 D RGD:4892554|PMID:16790753 20110223 RGD DNA:snp:5' utr:g.-3479T>G (human) 628714 Cd86 CD86 molecule gene DOID:630 genetic disease ISO RGD:1604658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628714 Cd86 CD86 molecule gene DOID:6432 pulmonary hypertension ISO RGD:1604658 D RGD:4892293|PMID:19693657 20110217 RGD protein:decreased expression:blood, myeloid dendritic cell (human) 628714 Cd86 CD86 molecule gene DOID:841 extrinsic allergic alveolitis ISO RGD:734336 D RGD:4892294|PMID:19282343 20110218 RGD associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) 628714 Cd86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604658 D RGD:11354966|PMID:19379594 20160801 RGD protein:increased expression:peripheral blood mononuclear cell (human) 628714 Cd86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1604658 D RGD:11520785|PMID:20581660 20160803 RGD 628714 Cd86 CD86 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:734336 D RGD:13702899|PMID:10398149 20180723 RGD 628714 Cd86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure IEP D RGD:4892210|PMID:20113783 20110210 RGD mRNA:increased expression:periodontal ligament (rat) 628714 Cd86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure IEP D RGD:4892246|PMID:20171363 20110215 RGD mRNA:increased expression:thalamus (rat) 628714 Cd86 CD86 molecule gene DOID:9000965 Neoplasm Metastasis IEP D RGD:4892237|PMID:18360875 20110215 RGD mRNA:decreased expression:mediastinal lymph node (rat) 628714 Cd86 CD86 molecule gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:734336 D RGD:4892562|PMID:20949109 20110223 RGD protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) 628714 Cd86 CD86 molecule gene DOID:9001488 Human Influenza ISO RGD:734336 D RGD:4892570|PMID:19933871 20110224 RGD protein:increased expression:mediastinal lymph node, B cell (mouse) 628714 Cd86 CD86 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628714 Cd86 CD86 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1604658 D RGD:11354969|PMID:25179679 20160801 RGD protein:increased expression:peripheral blood mononuclear cell (human) 628714 Cd86 CD86 molecule gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:734336 D RGD:11354965|PMID:25344652 20160829 RGD 628714 Cd86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression IEP D RGD:4892207|PMID:20451260 20110210 RGD protein:increased expression:spinal cord, blood vessel (rat) 628714 Cd86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:734336 D RGD:4892227|PMID:10477557 20110215 RGD 628714 Cd86 CD86 molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1604658 D RGD:11354987|PMID:17308795 20160802 RGD protein:increased expression:peripheral blood, eosinophil (human) 628714 Cd86 CD86 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604658 D RGD:4892343|PMID:17088138 20110222 RGD protein:increased expression:nasal mucosa, dendritic cell (human) 628714 Cd86 CD86 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734336 D RGD:2313930|PMID:8993020 20091028 RGD 628714 Cd86 CD86 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1604658 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 628714 Cd86 CD86 molecule gene DOID:9006844 Streptococcal Infections ISO RGD:734336 D RGD:4892553|PMID:16861672 20110223 RGD associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) 628714 Cd86 CD86 molecule gene DOID:9007730 Burns IEP D RGD:4892209|PMID:20233162 20110210 RGD protein:increased expression:spleen, dendritic cell (rat) 628714 Cd86 CD86 molecule gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604658 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 628714 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:734336 D RGD:4892295|PMID:19197726 20110218 RGD 628714 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia severity ISO RGD:1604658 D RGD:11354960|PMID:16115907 20160801 RGD protein:increased expression:mononuclear cell of bone marrow (human) 628714 Cd86 CD86 molecule gene DOID:9270 alkaptonuria ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 628714 Cd86 CD86 molecule gene DOID:9538 multiple myeloma ISO RGD:1604658 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16611307 628714 Cd86 CD86 molecule gene DOID:9538 multiple myeloma severity ISO RGD:1604658 D RGD:11354971|PMID:22705596 20160801 RGD protein:increased expression:bone marrow, plasma cell (human) 628714 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:2313911|PMID:16232222 20091027 RGD protein:decreased expression:dendritic cell 628714 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:2313920|PMID:12742378 20091027 RGD protein:increased expression:dendritic cell 628714 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:4892258|PMID:17947667 20110216 RGD human gene in mouse model 628714 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:2313917|PMID:15356107 20091027 RGD 628714 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:2313927|PMID:10679081 20091027 RGD protein:decreased expression:macrophage,dendritic cell,T cell 628714 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734336 D RGD:2313906|PMID:18316361 20091027 RGD protein:decreased expression:dendritic cells 628714 Cd86 CD86 molecule gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1604658 D RGD:11354967|PMID:24283754 20160801 RGD protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) 628715 Fibp FGF1 intracellular binding protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353732 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 628715 Fibp FGF1 intracellular binding protein gene DOID:1059 intellectual disability ISO RGD:1353732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628715 Fibp FGF1 intracellular binding protein gene DOID:12270 coloboma ISO RGD:1353732 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:26660953 628715 Fibp FGF1 intracellular binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628715 Fibp FGF1 intracellular binding protein gene DOID:2746 glycogen storage disease V ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628715 Fibp FGF1 intracellular binding protein gene DOID:630 genetic disease ISO RGD:1353732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628715 Fibp FGF1 intracellular binding protein gene DOID:8927 learning disability ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Learning disability PMID:26660953 628715 Fibp FGF1 intracellular binding protein gene DOID:9001487 Facies ISO RGD:1353732 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism PMID:26660953 628715 Fibp FGF1 intracellular binding protein gene DOID:9003816 Macrocephaly ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:26660953 628715 Fibp FGF1 intracellular binding protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 628715 Fibp FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:7240710 20190315 OMIM 628715 Fibp FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome PMID:25741868|PMID:26660953|PMID:27183861 628715 Fibp FGF1 intracellular binding protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628716 Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ichthyosis of skin PMID:25741868|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31671075|PMID:33422619 628716 Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:7240710 20190315 OMIM 628716 Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 PMID:25741868|PMID:28173123|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31671075|PMID:33422619 628716 Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 gene DOID:630 genetic disease ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628717 Klhl12 kelch-like family member 12 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 628717 Klhl12 kelch-like family member 12 gene DOID:1540 parathyroid carcinoma ISO RGD:1346633 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628717 Klhl12 kelch-like family member 12 gene DOID:630 genetic disease ISO RGD:1346633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628717 Klhl12 kelch-like family member 12 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 628717 Klhl12 kelch-like family member 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346633 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628718 Vps54 VPS54 subunit of GARP complex gene DOID:0050591 tooth agenesis ISO RGD:1350552 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Tooth agenesis 628718 Vps54 VPS54 subunit of GARP complex gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISS RGD:1553179 D RGD:13592920 20180518 MouseDO OMIM:105400 628718 Vps54 VPS54 subunit of GARP complex gene DOID:13137 Werdnig-Hoffmann disease ISS RGD:1553179 D RGD:13592920 20180518 MouseDO OMIM:253300 628718 Vps54 VPS54 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350552 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 628718 Vps54 VPS54 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1350552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628718 Vps54 VPS54 subunit of GARP complex gene DOID:9002955 Nerve Degeneration ISO RGD:1350552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19693665 628719 Cyp4x1 cytochrome P450, family 4, subfamily x, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731278 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628719 Cyp4x1 cytochrome P450, family 4, subfamily x, polypeptide 1 gene DOID:630 genetic disease ISO RGD:731278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:0060340 ciliopathy ISS RGD:1617550 D RGD:13592920 20180518 MouseDO 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:0060382 orofaciodigital syndrome IX ISO RGD:731355 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome IX 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:25741868|PMID:28492532 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:1617550 D RGD:13592920 20180518 MouseDO OMIM:263200 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:11782 astigmatism ISO RGD:731355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:630 genetic disease ISO RGD:731355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628721 Sclt1 sodium channel and clathrin linker 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:25741868|PMID:28492532 628722 Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1604564 D RGD:8554872 20161115 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 628722 Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1604564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628723 Nxph4 neurexophilin 4 gene DOID:630 genetic disease ISO RGD:736634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628723 Nxph4 neurexophilin 4 gene DOID:6846 familial melanoma ISO RGD:736634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 628725 Homer1 homer scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1354218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628725 Homer1 homer scaffold protein 1 gene DOID:9003126 Hallucinations ISO RGD:1354218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 628725 Homer1 homer scaffold protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354218 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628725 Homer1 homer scaffold protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16160706|PMID:16314758 628725 Homer1 homer scaffold protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 628725 Homer1 homer scaffold protein 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1354218 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 628726 Ptpn9 protein tyrosine phosphatase, non-receptor type 9 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353327 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 628726 Ptpn9 protein tyrosine phosphatase, non-receptor type 9 gene DOID:1826 epilepsy ISO RGD:1353327 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 628726 Ptpn9 protein tyrosine phosphatase, non-receptor type 9 gene DOID:2717 Bloom syndrome ISO RGD:1353327 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628726 Ptpn9 protein tyrosine phosphatase, non-receptor type 9 gene DOID:5419 schizophrenia ISO RGD:1353327 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628726 Ptpn9 protein tyrosine phosphatase, non-receptor type 9 gene DOID:630 genetic disease ISO RGD:1353327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628726 Ptpn9 protein tyrosine phosphatase, non-receptor type 9 gene DOID:9256 colorectal cancer ISO RGD:1353327 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:734010 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:7240710 20130221 OMIM 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 PMID:11067870|PMID:12679481|PMID:25741868|PMID:26712441|PMID:28492532|PMID:3470305 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:734010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532|PMID:31273778 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:13580 cholestasis ISO RGD:734010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:1852 intrahepatic cholestasis ISO RGD:734010 D RGD:1599971|PMID:12679481 20070222 RGD CBAS1, OMIM:607765 628727 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:630 genetic disease ISO RGD:734010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628728 Il3ra interleukin 3 receptor subunit alpha gene DOID:12849 autistic disorder ISO RGD:1348134 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628729 Fkbp4 FKBP prolyl isomerase 4 gene DOID:4674 androgen insensitivity syndrome ISS RGD:1551632 D RGD:13592920 20180518 MouseDO OMIM:300068 628729 Fkbp4 FKBP prolyl isomerase 4 gene DOID:630 genetic disease ISO RGD:733402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628729 Fkbp4 FKBP prolyl isomerase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733402 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 628730 Slc12a8 solute carrier family 12, member 8 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 628730 Slc12a8 solute carrier family 12, member 8 gene DOID:630 genetic disease ISO RGD:1345509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628730 Slc12a8 solute carrier family 12, member 8 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 628730 Slc12a8 solute carrier family 12, member 8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345509 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 628730 Slc12a8 solute carrier family 12, member 8 gene DOID:9270 alkaptonuria ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 628731 Fut11 fucosyltransferase 11 gene DOID:630 genetic disease ISO RGD:735764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628732 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25944380|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:16199547|PMID:17576681|PMID:18434540|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:0060001 withdrawal disorder ISO RGD:731076 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 628732 Gnao1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:7240710 20140911 OMIM 628732 Gnao1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 17 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 PMID:17576681|PMID:18414213|PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28503590|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29761117|PMID:29935962|PMID:29961512|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731076 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 628732 Gnao1 G protein subunit alpha o1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:7240710 20190315 OMIM 628732 Gnao1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:29389947|PMID:29761117|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616 628732 Gnao1 G protein subunit alpha o1 gene DOID:1059 intellectual disability ISO RGD:731076 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26595808|PMID:28492532 628732 Gnao1 G protein subunit alpha o1 gene DOID:10907 microcephaly ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23993195|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28747448 628732 Gnao1 G protein subunit alpha o1 gene DOID:12859 choreatic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 628732 Gnao1 G protein subunit alpha o1 gene DOID:1826 epilepsy ISO RGD:731076 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 628732 Gnao1 G protein subunit alpha o1 gene DOID:1826 epilepsy ISO RGD:731076 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 628732 Gnao1 G protein subunit alpha o1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 628732 Gnao1 G protein subunit alpha o1 gene DOID:480 movement disease ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:23993195|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28357411|PMID:28492532|PMID:28688840|PMID:32581362 628732 Gnao1 G protein subunit alpha o1 gene DOID:630 genetic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15313569|PMID:16199547|PMID:18434540|PMID:23993195|PMID:24700286|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:30682224|PMID:31130284|PMID:31406558|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480 628732 Gnao1 G protein subunit alpha o1 gene DOID:684 hepatocellular carcinoma ISO RGD:731076 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 628732 Gnao1 G protein subunit alpha o1 gene DOID:9001793 Generalized Epilepsy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25741868|PMID:26485252|PMID:28357411|PMID:28492532|PMID:28747448|PMID:28817111|PMID:30682224|PMID:32581362|PMID:9536098 628732 Gnao1 G protein subunit alpha o1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731076 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 628732 Gnao1 G protein subunit alpha o1 gene DOID:9006534 Nervous System Malformations ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23993195|PMID:25356970|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26795593|PMID:27068059|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 628732 Gnao1 G protein subunit alpha o1 gene DOID:9008086 Developmental Disabilities ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25356970|PMID:25741868|PMID:25966631|PMID:26795593|PMID:27068059|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 628732 Gnao1 G protein subunit alpha o1 gene DOID:9008675 Dyskinesias ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 628733 Erc1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:630 genetic disease ISO RGD:1604628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628733 Erc1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1604628 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 628733 Erc1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604628 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 628734 Tnfsf10 TNF superfamily member 10 gene DOID:0050685 small cell carcinoma ISO RGD:1344832 D RGD:2312747|PMID:16313792 20090901 RGD 628734 Tnfsf10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 628734 Tnfsf10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628734 Tnfsf10 TNF superfamily member 10 gene DOID:1062 Fanconi syndrome ISO RGD:1344832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 628734 Tnfsf10 TNF superfamily member 10 gene DOID:11612 polycystic ovary syndrome IEP D RGD:2312746|PMID:17641850 20090901 RGD protein:increased expression:ovary follicle, granulosa cell 628734 Tnfsf10 TNF superfamily member 10 gene DOID:1240 leukemia ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17204177 628734 Tnfsf10 TNF superfamily member 10 gene DOID:1793 pancreatic cancer ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11234897 628734 Tnfsf10 TNF superfamily member 10 gene DOID:2349 arteriosclerosis ISO RGD:1344832 D RGD:2312742|PMID:17000905 20090901 RGD associated with Diabetes Mellitus, Experimental 628734 Tnfsf10 TNF superfamily member 10 gene DOID:3068 glioblastoma ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21877938 628734 Tnfsf10 TNF superfamily member 10 gene DOID:3070 high grade glioma ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16820965|PMID:19229339 628734 Tnfsf10 TNF superfamily member 10 gene DOID:3910 lung adenocarcinoma ISO RGD:1344832 D RGD:11554173 20200407 CTD CTD Direct Evidence: therapeutic PMID:24345465 628734 Tnfsf10 TNF superfamily member 10 gene DOID:4450 renal cell carcinoma ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20403343 628734 Tnfsf10 TNF superfamily member 10 gene DOID:630 genetic disease ISO RGD:1344832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628734 Tnfsf10 TNF superfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17326159 628734 Tnfsf10 TNF superfamily member 10 gene DOID:769 neuroblastoma ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16820965 628734 Tnfsf10 TNF superfamily member 10 gene DOID:8398 osteoarthritis IEP D RGD:2290500|PMID:14872496 20090901 RGD 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21209944 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9000998 Brain Injuries ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9001488 Human Influenza ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344832 D RGD:2312739|PMID:18287563 20090901 RGD protein:increased expression:kidney 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17767197|PMID:24345465 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9002265 Kidney Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16985049 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16368536|PMID:17636462|PMID:17718901|PMID:21209944 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21616060 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15993848 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19509267|PMID:21209944 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21252285 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312738|PMID:18649770 20090901 RGD 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344832 D RGD:2312737|PMID:19572802 20090901 RGD 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732827 D RGD:2312744|PMID:12577054 20090901 RGD 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1344832 D RGD:11554173 20191029 CTD CTD Direct Evidence: therapeutic PMID:18980244 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20071162 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17273769 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18483385 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:1344832 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12780785 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344832 D RGD:2312740|PMID:18057577 20090901 RGD 628734 Tnfsf10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732827 D RGD:2312743|PMID:12882912 20090901 RGD 628735 Tnfsf15 TNF superfamily member 15 gene DOID:0050589 inflammatory bowel disease ISO RGD:737096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 628735 Tnfsf15 TNF superfamily member 15 gene DOID:0110896 inflammatory bowel disease 16 ISS RGD:737097 D RGD:13592920 20180518 MouseDO OMIM:612259 628735 Tnfsf15 TNF superfamily member 15 gene DOID:1024 leprosy ISO RGD:737096 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 628735 Tnfsf15 TNF superfamily member 15 gene DOID:630 genetic disease ISO RGD:737096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628735 Tnfsf15 TNF superfamily member 15 gene DOID:8398 osteoarthritis ISO RGD:737096 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 628735 Tnfsf15 TNF superfamily member 15 gene DOID:8577 ulcerative colitis ISO RGD:737096 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 628735 Tnfsf15 TNF superfamily member 15 gene DOID:9005372 Inflammation ISO RGD:737096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 628735 Tnfsf15 TNF superfamily member 15 gene DOID:9007156 Enteritis ISO RGD:737096 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 628736 Zfp91 zinc finger protein 91 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:151665744|PMID:31046116 20220330 RGD 628736 Zfp91 zinc finger protein 91 gene DOID:1059 intellectual disability ISO RGD:1354161 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628736 Zfp91 zinc finger protein 91 gene DOID:630 genetic disease ISO RGD:1354161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628736 Zfp91 zinc finger protein 91 gene DOID:9002395 Hypothermia ISO RGD:1354161 D RGD:11554173 20220705 CTD CTD Direct Evidence: therapeutic PMID:34942311 628736 Zfp91 zinc finger protein 91 gene DOID:9119 acute myeloid leukemia IDA D RGD:727221|PMID:12738986 19990101 RGD 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:11832 visual epilepsy IEP D RGD:1643196|PMID:17408599 20100305 RGD protein:decreased expression:hippocampus 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:1909 melanoma ISO RGD:732372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:630 genetic disease ISO RGD:732372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:9004009 Reperfusion Injury IEP D RGD:1299345|PMID:13678673 20100305 RGD 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732372 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628737 Slc6a11 solute carrier family 6 member 11 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 628738 Zscan12 zinc finger and SCAN domain containing 12 gene DOID:11372 megacolon ISO RGD:1346257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 628738 Zscan12 zinc finger and SCAN domain containing 12 gene DOID:630 genetic disease ISO RGD:1346257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628739 Miox myo-inositol oxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 628739 Miox myo-inositol oxygenase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:737368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 628739 Miox myo-inositol oxygenase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737368 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 628739 Miox myo-inositol oxygenase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:737368 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 628739 Miox myo-inositol oxygenase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:737368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 628739 Miox myo-inositol oxygenase gene DOID:10581 metachromatic leukodystrophy ISO RGD:737368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 628739 Miox myo-inositol oxygenase gene DOID:1059 intellectual disability ISO RGD:737368 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628739 Miox myo-inositol oxygenase gene DOID:630 genetic disease ISO RGD:737368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628740 Aptx aprataxin gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 628740 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:10054300|PMID:17572444 20150804 RGD DNA:missense mutation:cds:p.V320G(human) 628740 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:10054301|PMID:21465257 20150804 RGD DNA:mutations:multiple: 628740 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:7240710 20130221 OMIM 628740 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12196655|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15365154|PMID:15596775|PMID:15699391|PMID:15719174|PMID:15790557|PMID:15852392|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18004640|PMID:18403580|PMID:21228398|PMID:21465257|PMID:21486904|PMID:21984210|PMID:23183622|PMID:23659632|PMID:24033266|PMID:24362567|PMID:25637650|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:28516743|PMID:28652255|PMID:28881617|PMID:29356829|PMID:29482223|PMID:29934293|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061|PMID:33624863 628740 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 susceptibility ISO RGD:1606553 D RGD:1599207|PMID:12196655 20150728 RGD DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) 628740 Aptx aprataxin gene DOID:0050755 ataxia with oculomotor apraxia type 2 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 628740 Aptx aprataxin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 628740 Aptx aprataxin gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1606553 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 628740 Aptx aprataxin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1606553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 628740 Aptx aprataxin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 628740 Aptx aprataxin gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1606553 D RGD:10054301|PMID:21465257 20150804 RGD DNA:missense mutations:cds:725G>A,457A>G(human) 628740 Aptx aprataxin gene DOID:630 genetic disease ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15699391|PMID:15790557|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18403580|PMID:21465257|PMID:21486904|PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:29356829|PMID:29482223|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061 628740 Aptx aprataxin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 628740 Aptx aprataxin gene DOID:9870 galactosemia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347132 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1347132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:1347132 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:732736 D RGD:4146242|PMID:17182591 20110228 RGD 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:1347132 D RGD:4892639|PMID:17006604 20110228 RGD DNA:polymorphism: :1398A>G (human) 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:4892646|PMID:20383033 20110228 RGD mRNA:increased expression:bronchus 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:4892647|PMID:18480254 20110228 RGD 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:4892654|PMID:11714828 20110228 RGD 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:4892650|PMID:17392323 20110228 RGD DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:4892655|PMID:10686479 20110228 RGD DNA:polymorphism: :1050C>T (human) 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347132 D RGD:4145601|PMID:19796199 20110225 RGD DNA:SNP: :rs2250747 (human) 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:3310 atopic dermatitis ISO RGD:1347132 D RGD:8549525|PMID:14527737 20140327 RGD mRNA:increased expression:skin 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:418 systemic scleroderma no_association ISO RGD:1347132 D RGD:8549502|PMID:22045834 20140327 RGD DNA:SNP:intron:43163G>A (rs6646259) (human) 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:1347132 D RGD:4892610|PMID:20808962 20110225 RGD 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:732736 D RGD:4892611|PMID:20671265 20110225 RGD 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:8893 psoriasis ISO RGD:1347132 D RGD:8549525|PMID:14527737 20140327 RGD mRNA:increased expression:skin 628741 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347132 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:7240710 20130221 OMIM 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:11810107|PMID:11978770|PMID:12205652|PMID:12601709|PMID:12771268|PMID:14510822|PMID:15079010|PMID:15079011|PMID:15349881|PMID:15660777|PMID:15857855|PMID:17296837|PMID:17562837|PMID:17576681|PMID:18625862|PMID:18711109|PMID:20659151|PMID:20863412|PMID:21444903|PMID:21504429|PMID:22496201|PMID:24206907|PMID:25485908|PMID:25741868|PMID:26467025|PMID:26773249|PMID:26993267|PMID:27760137|PMID:28492532|PMID:29133209|PMID:29924869|PMID:30284771|PMID:32086284|PMID:9536098 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:1059 intellectual disability ISO RGD:733103 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:1826 epilepsy IMP D RGD:12792971|PMID:22589250 20170317 RGD DNA:missense mutation:cds:p.L385R (c.1154T>G)(rat) 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:21504429|PMID:25741868|PMID:26773249|PMID:28492532 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:630 genetic disease ISO RGD:733103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810107|PMID:15079010|PMID:15079011|PMID:15857855|PMID:17576681|PMID:18711109|PMID:20659151|PMID:21504429|PMID:25741868|PMID:26467025|PMID:26773249|PMID:28492532|PMID:29924869|PMID:9536098 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures IMP D RGD:14995940|PMID:30813600 20191105 RGD 628742 Lgi1 leucine-rich, glioma inactivated 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:733103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 628743 Cant1 calcium activated nucleotidase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:1348972 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 628743 Cant1 calcium activated nucleotidase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:1348972 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Desbuquois syndrome 628743 Cant1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:7240710 20190315 OMIM 628743 Cant1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 PMID:20358597|PMID:21037275|PMID:21412251|PMID:25741868|PMID:28492532|PMID:28742282 628743 Cant1 calcium activated nucleotidase 1 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348972 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 628743 Cant1 calcium activated nucleotidase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1348972 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 628743 Cant1 calcium activated nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1348972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19853239|PMID:21037275|PMID:21654728|PMID:22539336|PMID:28492532 628743 Cant1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:7240710 20190327 OMIM 628743 Cant1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:17576681|PMID:19853239|PMID:20358597|PMID:20358610|PMID:21037275|PMID:21412251|PMID:21654728|PMID:22539336|PMID:25741868|PMID:28492532|PMID:28742282|PMID:31988067|PMID:32907608|PMID:34270679|PMID:9536098 628743 Cant1 calcium activated nucleotidase 1 gene DOID:9007661 Dwarfism ISO RGD:1348972 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Short stature 628743 Cant1 calcium activated nucleotidase 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 628744 Faim2 Fas apoptotic inhibitory molecule 2 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:13792601|PMID:29208459 20180917 RGD 628744 Faim2 Fas apoptotic inhibitory molecule 2 gene DOID:630 genetic disease ISO RGD:1348169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628745 Rln3 relaxin 3 gene DOID:630 genetic disease ISO RGD:1345239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628745 Rln3 relaxin 3 gene DOID:9002221 Hyperplasia ISO RGD:1345239 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16112403 628745 Rln3 relaxin 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345239 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16112403 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:7240710 20190315 OMIM 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive PMID:25741868|PMID:28492532|PMID:29036432|PMID:34450031 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732794 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:10907 microcephaly ISS RGD:1550457 D RGD:13592920 20180518 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:732794 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:630 genetic disease ISO RGD:732794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:7240710 20220608 OMIM 628746 Copb2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868|PMID:34450031 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:7240710 20130221 OMIM 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ETFA deficiency | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12486872|PMID:12815589|PMID:1430199|PMID:16199547|PMID:16510302|PMID:16546179|PMID:17576681|PMID:18289905|PMID:1882842|PMID:20674745|PMID:20736750|PMID:23785301|PMID:23867278|PMID:25741868|PMID:26409463|PMID:28492532|PMID:29096039|PMID:30510944|PMID:31268564|PMID:33450351|PMID:33768790|PMID:9334218|PMID:9536098 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1342675 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:5419 schizophrenia ISO RGD:1342675 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:630 genetic disease ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16510302|PMID:23785301|PMID:28492532 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1342675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:8398 osteoarthritis ISO RGD:1342675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:9001253 Glutaric Aciduria 2 ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type 2A PMID:16510302|PMID:17576681|PMID:18289905|PMID:23785301|PMID:25741868|PMID:28492532|PMID:29096039|PMID:31268564|PMID:9536098 628747 Etfa electron transfer flavoprotein subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1342675 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050589 inflammatory bowel disease ISO RGD:1351472 D RGD:5686819|PMID:18849144 20120127 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy ISO RGD:1552054 D RGD:8695930|PMID:23723143 20140806 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy disease_progression ISO RGD:1351472 D RGD:5686895|PMID:21278397 20120131 RGD associated with inflammation; mRNA, protein:increased expression:heart, plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy treatment ISO RGD:1351472 D RGD:8695930|PMID:23723143 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050830 peripheral artery disease ISO RGD:1351472 D RGD:5686716|PMID:16321391 20120125 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050847 sleep apnea ISO RGD:1351472 D RGD:5686853|PMID:19913847 20120127 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1351472 D RGD:8694469|PMID:23181352 20140805 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis IEP D RGD:5686754|PMID:17604368 20120125 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:1552054 D RGD:5686898|PMID:21479819 20120131 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0060575 3MC syndrome 1 ISO RGD:1351472 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:5685373|PMID:22152320 20120110 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:5686355|PMID:21255792 20120119 RGD associated with obesity;protein:decreased expression:serum: 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20415685 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1351472 D RGD:5686660|PMID:15239085 20120125 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1552054 D RGD:5686841|PMID:19606393 20120127 RGD mRNA, protein:decreased expression:liver 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease disease_progression ISO RGD:1351472 D RGD:5686810|PMID:18713296 20120126 RGD associated with Obesity, Morbid; 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1351472 D RGD:11076260|PMID:26042596 20190515 RGD associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:1351472 D RGD:14401719|PMID:22269154 20190515 RGD DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:1351472 D RGD:14401717|PMID:27860427 20190515 RGD DNA:hypermethylation 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0081267 graft-versus-host disease severity ISO RGD:1351472 D RGD:5686893|PMID:21258011 20120131 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10140 dry eye syndrome treatment ISO RGD:1552054 D RGD:8694422|PMID:23211823 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:5686377|PMID:22213409 20120120 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:5686881|PMID:20727007 20120131 RGD protein:increased expression:cerebrospinal fluid, plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1070 primary open angle glaucoma ISO RGD:1351472 D RGD:8547563|PMID:22553514 20140805 RGD DNA:SNP: :rs2241766 (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10763 hypertension ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11396 pulmonary edema ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25945502 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11612 polycystic ovary syndrome ISO RGD:1351472 D RGD:8694433|PMID:16868149 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1168 familial hyperlipidemia treatment IEP D RGD:8695929|PMID:24308182 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15126557 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:2313236|PMID:19626510 20090914 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes treatment IEP D RGD:8695950|PMID:23608331 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11832 visual epilepsy ISO RGD:1552054 D RGD:5686407|PMID:21976521 20120123 RGD associated with metabolic syndrome X; 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1206 Rett syndrome ISO RGD:1351472 D RGD:5686812|PMID:18710461 20120126 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease ISO RGD:1351472 D RGD:5686857|PMID:20583542 20120127 RGD associated with thyroid diseases; protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease severity ISO RGD:1351472 D RGD:5686818|PMID:18997483 20120127 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:12858 Huntington's disease ISO RGD:1552054 D RGD:5686822|PMID:19124532 20120127 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:5686750|PMID:16644713 20120125 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs: :-11365C>G, 276G>T (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:5686752|PMID:16822679 20120125 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:5686800|PMID:17893004 20120126 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1351472 D RGD:5686379|PMID:22207678 20120120 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1307 dementia ISO RGD:1351472 D RGD:5686377|PMID:22213409 20120120 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1351472 D RGD:8694466|PMID:22563689 20140805 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13241 Behcet's disease ISO RGD:1351472 D RGD:8694430|PMID:21044750 20140805 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13378 Kawasaki disease ISO RGD:1351472 D RGD:5686751|PMID:16982510 20120125 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13608 biliary atresia ISO RGD:1351472 D RGD:5686894|PMID:21356120 20120131 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1580 diffuse scleroderma severity ISO RGD:1351472 D RGD:8694418|PMID:21615510 20140805 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:8694415|PMID:18451143 20140805 RGD DNA:SNPs: :rs1501299, rs2241766 (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:8694425|PMID:16019138 20140805 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:8694447|PMID:17192291 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer no_association ISO RGD:1351472 D RGD:8694417|PMID:19723917 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:178 vascular disease ISO RGD:1351472 D RGD:5686800|PMID:17893004 20120126 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18931039 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis treatment ISO RGD:1351472 D RGD:8694473|PMID:12451000 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2018 hyperinsulinism IEP D RGD:1599145|PMID:16414018 20070117 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2048 autoimmune hepatitis ISO RGD:1351472 D RGD:5686833|PMID:19301087 20120127 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2377 multiple sclerosis ISO RGD:1351472 D RGD:5686885|PMID:20714168 20120131 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1351472 D RGD:8694410|PMID:21397927 20140805 RGD DNA:SNPs, haplotypes:5' utr, introns, exon:multiple 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1351472 D RGD:5686838|PMID:19641295 20120127 RGD associated with pulmonary diseases; protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2841 asthma ISO RGD:1552054 D RGD:5686821|PMID:19168697 20120127 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2957 pulmonary tuberculosis ISO RGD:1351472 D RGD:5686405|PMID:22022605 20120123 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2987 familial Mediterranean fever ISO RGD:1351472 D RGD:5686880|PMID:20518740 20120131 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351472 D RGD:5686825|PMID:21179920 20120127 RGD associated with Metabolic Syndrome X;protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1351472 D RGD:5686379|PMID:22207678 20120120 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3312 bipolar disorder ISO RGD:1351472 D RGD:5686381|PMID:22137759 20120120 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3362 coronary aneurysm ISO RGD:1351472 D RGD:8694456|PMID:22683371 20140805 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3393 coronary artery disease ISO RGD:1351472 D RGD:5686802|PMID:17878891 20120126 RGD protein:decreased expression:adipose tissue 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3454 brain infarction IDA D RGD:5686830|PMID:19362080 20120127 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3770 pulmonary fibrosis ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25945502 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:4195 hyperglycemia ISO RGD:1351472 D RGD:11554173 20181225 CTD CTD Direct Evidence: therapeutic PMID:29991592 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:4247 coronary restenosis ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12138120 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1351472 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29723618 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:5082 liver cirrhosis severity ISO RGD:1351472 D RGD:5686674|PMID:16115302 20120125 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:5844 myocardial infarction disease_progression IEP D RGD:5686351|PMID:21326342 20120119 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19367012|PMID:26670611 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:5686388|PMID:22032915 20120120 RGD associated with cardiovascular disease; protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:5686806|PMID:18192035 20120126 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:630 genetic disease ISO RGD:1351472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6432 pulmonary hypertension ISO RGD:1552054 D RGD:5686821|PMID:19168697 20120127 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351472 D RGD:14401720|PMID:23740135 20190515 RGD DNA:SNP:intron:+276T>G (rs1501299) (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7147 ankylosing spondylitis ISO RGD:1351472 D RGD:5686891|PMID:21122270 20120131 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:5686424|PMID:21789720 20120124 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease IEP D RGD:8695941|PMID:24028144 20140806 RGD protein:increased expression:serum, urine 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7998 hyperthyroidism IEP D RGD:1599133|PMID:17161219 20070117 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:820 myocarditis ISO RGD:1552054 D RGD:5686895|PMID:21278397 20120131 RGD mRNA, protein:increased expression:heart, plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8577 ulcerative colitis ISO RGD:1351472 D RGD:5686726|PMID:16432373 20120125 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:5686726|PMID:16432373 20120125 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy ISO RGD:1351472 D RGD:8694412|PMID:24655058 20140805 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1351472 D RGD:8694475|PMID:17970779 20140805 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000039 Spinal Cord Injuries ISO RGD:1351472 D RGD:5686719|PMID:16213239 20120125 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1351472 D RGD:8695949|PMID:22230897 20140806 RGD protein:increased expression:cerebrospinal fluid 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease ISO RGD:1351472 D RGD:5686406|PMID:22019747 20120123 RGD associated with Diabetes mellitus, Type2; 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease disease_progression ISO RGD:1351472 D RGD:5686379|PMID:22207678 20120120 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization IEP D RGD:2289282|PMID:16689928 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment IDA D RGD:8695931|PMID:22633972 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1552054 D RGD:8694464|PMID:17466298 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:14724832 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001981 Weight Loss ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18230824 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:8695935|PMID:23762489 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:5686409|PMID:21945031 20120123 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:8694443|PMID:23260797 20140805 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1351472 D RGD:8694475|PMID:17970779 20140805 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1351472 D RGD:8694443|PMID:23260797 20140805 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:8695947|PMID:23533720 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:1552054 D RGD:8695925|PMID:23674516 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis IEP D RGD:5685385|PMID:21681567 20120110 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:5686814|PMID:19026984 20120126 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002775 Cognitive Dysfunction ISO RGD:1351472 D RGD:5686881|PMID:20727007 20120131 RGD protein:increased expression:cerebrospinal fluid, plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1552054 D RGD:7394795|PMID:19342600 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351472 D RGD:5686851|PMID:19725899 20120127 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004009 Reperfusion Injury IMP D RGD:5686804|PMID:18098300 20120126 RGD associated with Non-alcoholic Fatty Liver Disease; 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004017 Chronic Hepatitis C ISO RGD:1351472 D RGD:14401718|PMID:26293833 20190515 RGD protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis IEP D RGD:1599144|PMID:16488436 20070117 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:5686408|PMID:21962804 20120123 RGD mRNA, protein:decreasedexpression:serum, omental fat pad: 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:5686835|PMID:19481767 20120127 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury ISO RGD:1552054 D RGD:5686380|PMID:22156343 20120120 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1552054 D RGD:8695940|PMID:23522481 20140806 RGD associated with Sepsis 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351472 D RGD:5686385|PMID:22053557 20120120 RGD associated with hypertension, overweight;protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004657 Weight Gain ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004898 Jaundice ISO RGD:1351472 D RGD:5686894|PMID:21356120 20120131 RGD associated with Biliary Atresia; protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1552054 D RGD:8694414|PMID:19447866 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms treatment IEP D RGD:8694468|PMID:22246620 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005372 Inflammation ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12860835 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599146|PMID:16201273 20070117 RGD mRNA, protein:decreased expression:adipose tissue, serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552054 D RGD:8694416|PMID:23174569 20140805 RGD protein:increased expression:retina 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005930 Endotoxemia IEP D RGD:8695926|PMID:23838384 20140806 RGD associated with Obesity 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:7240710 20171011 OMIM 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | ClinVar Annotator: match by term: Hypoadiponectinemia PMID:10918532|PMID:12878598 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006218 Masked Hypertension ISO RGD:1351472 D RGD:5686820|PMID:19222669 20120127 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1351472 D RGD:8695946|PMID:21412771 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006599 Hypertriglyceridemia ISO RGD:1351472 D RGD:8694463|PMID:21595566 20140805 RGD associated with HIV Infections 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:17618945|PMID:18162013|PMID:20833989 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:2313234|PMID:19690575 20090914 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:5686428|PMID:21625822 20120124 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:5686800|PMID:17893004 20120126 RGD associated with vascular diseases; protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1552054 D RGD:5686407|PMID:21976521 20120123 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1351472 D RGD:5686674|PMID:16115302 20120125 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:8695938|PMID:24669271 20140806 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1351472 D RGD:5686856|PMID:20047566 20120127 RGD protein:decreased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1552054 D RGD:5686837|PMID:19699724 20120127 RGD protein:increased expression:plasma,brain 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007102 Myocardial Ischemia ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16155579 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007329 Human Viral Hepatitis ISO RGD:1351472 D RGD:5686674|PMID:16115302 20120125 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20709802 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance IEP D RGD:1599150|PMID:16041833 20070117 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18931039|PMID:21484566 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment IEP D RGD:8695928|PMID:21872431 20140806 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment IEP D RGD:8695951|PMID:23089228 20140806 RGD associated with Hypertension 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16155579 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9008212 Diabetic Foot ISO RGD:1351472 D RGD:5686889|PMID:20836881 20120131 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1351472 D RGD:8694470|PMID:12876073 20140805 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9009039 Hyperemia ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9074 systemic lupus erythematosus ISO RGD:1552054 D RGD:5686827|PMID:19109165 20120127 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9120 amyloidosis ISO RGD:1351472 D RGD:8694455|PMID:22935190 20140805 RGD associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9351 diabetes mellitus ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus IEP D RGD:5686359|PMID:21155820 20120119 RGD protein:decreased expression:plasma, myocardium: 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12114044|PMID:12354786|PMID:15734870 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:14975146|PMID:28843383 20191001 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:2313238|PMID:19622782 20090914 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:5686752|PMID:16822679 20120125 RGD protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:5686807|PMID:18472407 20120126 RGD associated with myocardial infarction;protein:decreased expression: : 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:8694412|PMID:24655058 20140805 RGD DNA:SNP: :g.45T>G (human) 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552054 D RGD:2313230|PMID:19708766 20090914 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease IEP D RGD:1599139|PMID:17006986 20070117 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:1351472 D RGD:5686674|PMID:16115302 20120125 RGD protein:increased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9452 fatty liver disease ISO RGD:1351472 D RGD:5686883|PMID:20714777 20120131 RGD associated with hepatitis C;protein:increased expression:serum 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9675 pulmonary emphysema ISO RGD:1552054 D RGD:5686887|PMID:20935231 20120131 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351472 D RGD:2313235|PMID:19640330 20090914 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity IEP D RGD:1599149|PMID:16092047 20070117 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10092513|PMID:14617771 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:11554173 20181002 CTD CTD Direct Evidence: marker/mechanism PMID:11549668 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:14975146|PMID:28843383 20191001 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:2313239|PMID:19606374 20090914 RGD 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:5686809|PMID:18303100 20120126 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:5686813|PMID:18651432 20120126 RGD associated with myocardial infarction; protein:decreased expression:plasma 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity treatment IEP D RGD:8695927|PMID:23731386 20140806 RGD associated with Diabetes Mellitus, Type 2 628748 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9976 heroin dependence ISO RGD:1351472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:732225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732225 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1059 intellectual disability ISO RGD:732225 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:2746 glycogen storage disease V ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:732225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9007188 Liver Neoplasms ISO RGD:732225 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 628749 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:0080600 COVID-19 ISO RGD:1352272 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:10487 Hirschsprung's disease ISO RGD:1352272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:1205 allergic disease ISO RGD:1352272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:1824 status epilepticus ISO RGD:1352272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:2841 asthma ISO RGD:1352272 D RGD:5130925|PMID:16210593 20110414 RGD mRNA, protein:increased expression:blood, mature NK T cell 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:552 pneumonia ISO RGD:1352272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:630 genetic disease ISO RGD:1352272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628750 Ccr9 C-C motif chemokine receptor 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 628751 Zfp335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:7240710 20140911 OMIM 628751 Zfp335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 PMID:19131338|PMID:23178126|PMID:25741868|PMID:27540107|PMID:28327206|PMID:28492532|PMID:29652087|PMID:33216650 628751 Zfp335 zinc finger protein 335 gene DOID:2234 focal epilepsy ISO RGD:732123 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 628751 Zfp335 zinc finger protein 335 gene DOID:630 genetic disease ISO RGD:732123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19131338|PMID:22495306|PMID:23178126|PMID:25741868|PMID:26795593|PMID:27540107|PMID:28492532 628751 Zfp335 zinc finger protein 335 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:732123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 628751 Zfp335 zinc finger protein 335 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:732123 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme 628752 Rab38 RAB38, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628752 Rab38 RAB38, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency IAGP D RGD:1302447|PMID:9250486 20201210 RGD 628752 Rab38 RAB38, member RAS oncogene family gene DOID:3753 Hermansky-Pudlak syndrome IAGP D RGD:2324690|PMID:19897744 20180501 RGD 628752 Rab38 RAB38, member RAS oncogene family gene DOID:576 proteinuria IAGP D RGD:1357409|PMID:15758045 20070212 RGD 628752 Rab38 RAB38, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628752 Rab38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria IAGP D RGD:1357409|PMID:15758045 20070212 RGD 628752 Rab38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria IAGP D RGD:13782139|PMID:23291471 20201210 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi 628753 Pnrc1 proline-rich nuclear receptor coactivator 1 gene DOID:0080600 COVID-19 ISO RGD:1354036 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 628753 Pnrc1 proline-rich nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1354036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628753 Pnrc1 proline-rich nuclear receptor coactivator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354036 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 628755 Cavin3 caveolae associated protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353748 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 628755 Cavin3 caveolae associated protein 3 gene DOID:630 genetic disease ISO RGD:1353748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16757520|PMID:17470133|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24386122|PMID:24767253|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26666848|PMID:26981555|PMID:27792009|PMID:28095804|PMID:28492532|PMID:28808920|PMID:29928259|PMID:30548430|PMID:32138288 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:7240710 20130221 OMIM 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12447927|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16167124|PMID:16757520|PMID:17470133|PMID:17576681|PMID:18081003|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:22676771|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24082139|PMID:24386122|PMID:24767253|PMID:24915861|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26206375|PMID:26338816|PMID:26666848|PMID:26981555|PMID:27271431|PMID:27792009|PMID:28095804|PMID:28105569|PMID:28492532|PMID:28808920|PMID:29928259|PMID:30548430|PMID:32138288|PMID:9536098 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:1059 intellectual disability ISO RGD:1353089 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1353089 D RGD:1601483|PMID:11567215 20070423 RGD 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISS RGD:1553506 D RGD:13592920 20180518 MouseDO 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:630 genetic disease ISO RGD:1353089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15937921|PMID:20301473|PMID:24386122|PMID:25145893|PMID:25741868|PMID:26338816|PMID:28095804|PMID:28492532 628756 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1353089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 628757 Wfdc2 WAP four-disulfide core domain 2 gene DOID:2234 focal epilepsy ISO RGD:1344525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 628757 Wfdc2 WAP four-disulfide core domain 2 gene DOID:630 genetic disease ISO RGD:1344525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628757 Wfdc2 WAP four-disulfide core domain 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1344525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 628757 Wfdc2 WAP four-disulfide core domain 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:10283 prostate cancer severity ISO RGD:1346204 D RGD:2292571|PMID:11204274 20080424 RGD protein:decreased expression:prostate gland 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:10652 Alzheimer's disease ISO RGD:1346204 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:10763 hypertension IEP D RGD:10041072|PMID:21068519 20150511 RGD protein:increased expression:aorta 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:10763 hypertension susceptibility ISO RGD:1346204 D RGD:2292575|PMID:18075463 20080424 RGD DNA:polymorphism:promoter:-22A>G 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:10952 nephritis treatment IDA D RGD:10041073|PMID:25176084 20150511 RGD 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:11713 diabetic angiopathy treatment IDA D RGD:10041069|PMID:21926342 20150511 RGD associated with Diabetes Mellitus, Type 2 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:1612 breast cancer ISO RGD:1346204 D RGD:2292558|PMID:16457699 20080424 RGD DNA:deletion 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus IEP D RGD:1581409|PMID:16600505 20071003 RGD protein:increased phosphorylation:hippocampus, postsynaptic density 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:1346204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:1909 melanoma ISO RGD:1346204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:2316 brain ischemia IDA D RGD:1642647|PMID:10964954 20071005 RGD protein:increased tyrosine phosphorylation:cerebral cortex 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:2921 glomerulonephritis ISO RGD:1346204 D RGD:729912|PMID:11774117 20071005 RGD protein:increased expression:glomerulus 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:729912|PMID:11774117 20071005 RGD protein:increased expression:glomerulus 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:630 genetic disease ISO RGD:1346204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:9002514 Neointima IMP D RGD:10041068|PMID:22922962 20150511 RGD associated with Carotid Artery Injuries 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004009 Reperfusion Injury IDA D RGD:1642621|PMID:15970382 20071004 RGD protein:increased phosphorylation:hippocampus 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1346204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1642607|PMID:12124218 20071003 RGD associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004914 Postmenopausal Osteoporosis IMP D RGD:1642610|PMID:17537919 20071003 RGD 628758 Ptk2b protein tyrosine kinase 2 beta gene DOID:9007692 Insulin Resistance ISO RGD:733599 D RGD:1642605|PMID:16039993 20071003 RGD associated with Obesity 628759 Prop1 PROP paired-like homeobox 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 628759 Prop1 PROP paired-like homeobox 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 628759 Prop1 PROP paired-like homeobox 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1344010 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 628759 Prop1 PROP paired-like homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1344010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 628759 Prop1 PROP paired-like homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1344010 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 628759 Prop1 PROP paired-like homeobox 1 gene DOID:1924 hypogonadism ISO RGD:1344010 D RGD:1601504|PMID:15941866 20070424 RGD DNA:point mutation:exon:W194X 628759 Prop1 PROP paired-like homeobox 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1344010 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 628759 Prop1 PROP paired-like homeobox 1 gene DOID:630 genetic disease ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12519826|PMID:18157385|PMID:25741868|PMID:28492532 628759 Prop1 PROP paired-like homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:15963055|PMID:18157385|PMID:25741868|PMID:26467025|PMID:27756091|PMID:28492532|PMID:9462743|PMID:9745452 628759 Prop1 PROP paired-like homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1344010 D RGD:7240710 20130221 OMIM 628759 Prop1 PROP paired-like homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:10323394|PMID:10599689|PMID:10946881|PMID:11134108|PMID:11549674|PMID:11549703|PMID:12153609|PMID:12519826|PMID:12859410|PMID:14614227|PMID:15126542|PMID:15472232|PMID:15531542|PMID:15670191|PMID:15941866|PMID:15963055|PMID:16131601|PMID:16544023|PMID:16735499|PMID:16759034|PMID:16984240|PMID:17526936|PMID:17526949|PMID:18157385|PMID:19128366|PMID:20381582|PMID:20981092|PMID:21132537|PMID:21863341|PMID:22024773|PMID:22111336|PMID:23624138|PMID:24033266|PMID:25557026|PMID:25741868|PMID:26059845|PMID:26467025|PMID:26608600|PMID:26886902|PMID:27756091|PMID:28492532|PMID:28734020|PMID:30266296|PMID:32870266|PMID:9462743|PMID:9661653|PMID:9745452|PMID:9768691|PMID:9824293 628759 Prop1 PROP paired-like homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:1344010 D RGD:1601503|PMID:9768691 20070424 RGD combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C 628759 Prop1 PROP paired-like homeobox 1 gene DOID:9406 hypopituitarism ISS RGD:733046 D RGD:13592920 20180518 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 628759 Prop1 PROP paired-like homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:1344010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Panhypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:11549674|PMID:15126542|PMID:15472232|PMID:15963055|PMID:16735499|PMID:17526936|PMID:18157385|PMID:21863341|PMID:22024773|PMID:25741868|PMID:26059845|PMID:26467025|PMID:26608600|PMID:26886902|PMID:27756091|PMID:28492532|PMID:28734020|PMID:30266296|PMID:9462743|PMID:9745452|PMID:9768691 628760 Duox1 dual oxidase 1 gene DOID:0050712 AGAT deficiency ISO RGD:1345114 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 628760 Duox1 dual oxidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345114 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628760 Duox1 dual oxidase 1 gene DOID:630 genetic disease ISO RGD:1345114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628760 Duox1 dual oxidase 1 gene DOID:9000371 influenza A ISO RGD:1345114 D RGD:40903071|PMID:24888898 20210107 RGD protein:decreased expression:blood plasma (human) 628760 Duox1 dual oxidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345114 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628761 Duox2 dual oxidase 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353863 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16134168|PMID:16322276 628761 Duox2 dual oxidase 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353863 D RGD:734905|PMID:12110737 20061219 RGD 628761 Duox2 dual oxidase 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:12110737|PMID:16322276|PMID:16608528|PMID:17121535|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 628761 Duox2 dual oxidase 2 gene DOID:0050712 AGAT deficiency ISO RGD:1353863 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 628761 Duox2 dual oxidase 2 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 628761 Duox2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:7240710 20130221 OMIM 628761 Duox2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 PMID:12110737|PMID:16134168|PMID:16199547|PMID:16322276|PMID:16608528|PMID:17121535|PMID:17374849|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20187165|PMID:20972728|PMID:21565790|PMID:21900383|PMID:22336364|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25616291|PMID:25741868|PMID:25928756|PMID:26301257|PMID:26334177|PMID:26349762|PMID:26565538|PMID:26709262|PMID:26742565|PMID:26990548|PMID:27108200|PMID:27166716|PMID:27349010|PMID:27498126|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28444304|PMID:28492532|PMID:28541007|PMID:28648510|PMID:28666341|PMID:28683258|PMID:29092890|PMID:29546359|PMID:29650690|PMID:30022773|PMID:30084132|PMID:30154845|PMID:30240412|PMID:30487145|PMID:30512158|PMID:30894704|PMID:31030636|PMID:31044655|PMID:32319661|PMID:32425884|PMID:32459320|PMID:32765423|PMID:33631011|PMID:34248839|PMID:34276565|PMID:34564849|PMID:9536098 628761 Duox2 dual oxidase 2 gene DOID:1498 cholera treatment ISO RGD:1353863 D RGD:40925924|PMID:29133347 20210121 RGD 628761 Duox2 dual oxidase 2 gene DOID:2717 Bloom syndrome ISO RGD:1353863 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628761 Duox2 dual oxidase 2 gene DOID:50 thyroid gland disease ISO RGD:1353863 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration PMID:25741868 628761 Duox2 dual oxidase 2 gene DOID:630 genetic disease ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12110737|PMID:16322276|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30375286|PMID:30487145|PMID:31044655|PMID:31867598|PMID:32319661|PMID:32765423|PMID:9536098 628761 Duox2 dual oxidase 2 gene DOID:8577 ulcerative colitis ISO RGD:1353863 D RGD:40924645|PMID:19759286 20210115 RGD mRNA:increased expression:colon (human) 628761 Duox2 dual oxidase 2 gene DOID:8778 Crohn's disease ISO RGD:1353863 D RGD:40924645|PMID:19759286 20210115 RGD mRNA:increased expression:colon (human) 628761 Duox2 dual oxidase 2 gene DOID:9000371 influenza A severity ISO RGD:1332300 D RGD:40924644|PMID:28936773 20210115 RGD 628761 Duox2 dual oxidase 2 gene DOID:9000371 influenza A severity ISO RGD:1332300 D RGD:40925921|PMID:29556357 20210121 RGD 628761 Duox2 dual oxidase 2 gene DOID:9000371 influenza A severity ISO RGD:1332300 D RGD:40925925|PMID:25751630 20210121 RGD 628761 Duox2 dual oxidase 2 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:1353863 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:21565790|PMID:25741868|PMID:28492532 628761 Duox2 dual oxidase 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1353863 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 628761 Duox2 dual oxidase 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1353863 D RGD:40924640|PMID:27048452 20210114 RGD mRNA,protein:decreased expression:mucosa of stomach (human) 628761 Duox2 dual oxidase 2 gene DOID:9256 colorectal cancer ISO RGD:1353863 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628762 Rims3 regulating synaptic membrane exocytosis 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347880 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 628762 Rims3 regulating synaptic membrane exocytosis 3 gene DOID:630 genetic disease ISO RGD:1347880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628763 Aqp11 aquaporin 11 gene DOID:1059 intellectual disability ISO RGD:736750 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628763 Aqp11 aquaporin 11 gene DOID:630 genetic disease ISO RGD:736750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628764 Rab8b RAB8B, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350755 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 628764 Rab8b RAB8B, member RAS oncogene family gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350755 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 628764 Rab8b RAB8B, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1350755 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628764 Rab8b RAB8B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628764 Rab8b RAB8B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628764 Rab8b RAB8B, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1350755 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628765 Gimap4 GTPase, IMAP family member 4 gene DOID:0080600 COVID-19 ISO RGD:1351937 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 628765 Gimap4 GTPase, IMAP family member 4 gene DOID:2843 long QT syndrome ISO RGD:1351937 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 628765 Gimap4 GTPase, IMAP family member 4 gene DOID:630 genetic disease ISO RGD:1351937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628766 Casc3 CASC3 exon junction complex subunit gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1353876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 628766 Casc3 CASC3 exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1353876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628767 Arhgap17 Rho GTPase activating protein 17 gene DOID:630 genetic disease ISO RGD:1343283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628767 Arhgap17 Rho GTPase activating protein 17 gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 628768 Cryba2 crystallin, beta A2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343426 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 628768 Cryba2 crystallin, beta A2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 628768 Cryba2 crystallin, beta A2 gene DOID:0110237 cataract 42 ISO RGD:1343426 D RGD:7240710 20170920 OMIM 628768 Cryba2 crystallin, beta A2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 628768 Cryba2 crystallin, beta A2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 628768 Cryba2 crystallin, beta A2 gene DOID:630 genetic disease ISO RGD:1343426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628768 Cryba2 crystallin, beta A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343426 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628769 Pdlim7 PDZ and LIM domain 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 628769 Pdlim7 PDZ and LIM domain 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 628769 Pdlim7 PDZ and LIM domain 7 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1606830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 628769 Pdlim7 PDZ and LIM domain 7 gene DOID:630 genetic disease ISO RGD:1606830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628769 Pdlim7 PDZ and LIM domain 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606830 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 628770 Dab1 DAB adaptor protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1353804 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 628770 Dab1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:7240710 20190315 OMIM 628770 Dab1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 PMID:23700170|PMID:25741868|PMID:28686858|PMID:29939198 628770 Dab1 DAB adaptor protein 1 gene DOID:0060673 Peters anomaly ISO RGD:1353804 D RGD:8554872 20170221 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 628770 Dab1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 628770 Dab1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:2317973|PMID:15820235 20100510 RGD mRNA:decreased expression:cerebellum, Brodmann area 9 (human) 628770 Dab1 DAB adaptor protein 1 gene DOID:1824 status epilepticus IEP D RGD:2317783|PMID:17314278 20100511 RGD protein:increased expression:dentate gyrus (rat) 628770 Dab1 DAB adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1353804 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 628771 Abi2 abl-interactor 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 628771 Abi2 abl-interactor 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 628771 Abi2 abl-interactor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 628771 Abi2 abl-interactor 2 gene DOID:630 genetic disease ISO RGD:1353143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628771 Abi2 abl-interactor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353143 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 628771 Abi2 abl-interactor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353143 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628771 Abi2 abl-interactor 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:0060041 autism spectrum disorder IMP D RGD:126790534|PMID:29970986 20210426 RGD 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:22346768|PMID:25741868|PMID:27569545|PMID:30763456 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:0060041 autism spectrum disorder ISS RGD:736233 D RGD:13592920 20190516 MouseDO 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:1059 intellectual disability ISO RGD:736232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20473310 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:1059 intellectual disability ISO RGD:736232 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder ISO RGD:736232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20473310|PMID:20531469 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder ISO RGD:736232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 PMID:20473310|PMID:21994763|PMID:22346768|PMID:25560758|PMID:25741868|PMID:26467025|PMID:27001614|PMID:28492532|PMID:29991577|PMID:30072871|PMID:30911184 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:736232 D RGD:7240710 20190502 OMIM 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:3312 bipolar disorder ISO RGD:736232 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:736232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20473310|PMID:25741868|PMID:30911184 628772 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 628773 Hdgfl3 HDGF like 3 gene DOID:630 genetic disease ISO RGD:1606795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628774 Bcl2l11 Bcl2-like 11 gene DOID:14268 sclerosing cholangitis ISO RGD:734299 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 628774 Bcl2l11 Bcl2-like 11 gene DOID:2921 glomerulonephritis ISO RGD:734300 D RGD:734641|PMID:10576740 19990101 RGD 628774 Bcl2l11 Bcl2-like 11 gene DOID:630 genetic disease ISO RGD:734299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628774 Bcl2l11 Bcl2-like 11 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734299 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 628774 Bcl2l11 Bcl2-like 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734299 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 628775 Pkig cAMP-dependent protein kinase inhibitor gamma gene DOID:2234 focal epilepsy ISO RGD:1350390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 628775 Pkig cAMP-dependent protein kinase inhibitor gamma gene DOID:630 genetic disease ISO RGD:1350390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628775 Pkig cAMP-dependent protein kinase inhibitor gamma gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 628776 Lama3 laminin subunit alpha 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345784 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 628776 Lama3 laminin subunit alpha 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10366601|PMID:11810295|PMID:12915477|PMID:12943669|PMID:15373767|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25525159|PMID:25741868|PMID:26635394|PMID:27375110|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 628776 Lama3 laminin subunit alpha 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 628776 Lama3 laminin subunit alpha 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISS RGD:1615178 D RGD:13592920 20220512 MouseDO OMIM:226650 628776 Lama3 laminin subunit alpha 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1345784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 628776 Lama3 laminin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1345784 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628776 Lama3 laminin subunit alpha 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1345784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 628776 Lama3 laminin subunit alpha 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1345784 D RGD:1600080|PMID:8586427 20070227 RGD 628776 Lama3 laminin subunit alpha 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1345784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17916201|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 628776 Lama3 laminin subunit alpha 3 gene DOID:4123 nail disease ISO RGD:1345784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 628776 Lama3 laminin subunit alpha 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1345784 D RGD:13793369|PMID:12855645 20181003 RGD DNA:hyper-methylation:promoter: 628776 Lama3 laminin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1345784 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628776 Lama3 laminin subunit alpha 3 gene DOID:8549 chronic ulcer of skin ISO RGD:1345784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 628776 Lama3 laminin subunit alpha 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1345784 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25525159|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474 628776 Lama3 laminin subunit alpha 3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:7240710 20220608 OMIM 628776 Lama3 laminin subunit alpha 3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate PMID:11810295|PMID:25741868 628776 Lama3 laminin subunit alpha 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1345784 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15541073 628776 Lama3 laminin subunit alpha 3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:7240710 20220608 OMIM 628776 Lama3 laminin subunit alpha 3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:7633458|PMID:8530087|PMID:8586427|PMID:8618022|PMID:8824879|PMID:8983017 628776 Lama3 laminin subunit alpha 3 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1345784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532 628776 Lama3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 628776 Lama3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:7240710 20130221 OMIM 628776 Lama3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:26635394|PMID:27827380|PMID:28087116|PMID:28492532|PMID:35314946|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8547535|PMID:23701314 20140217 RGD 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32188678|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:34130719|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34426522|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:34638692|PMID:35457016|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:33749171|PMID:34130719|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34948090|PMID:35457016|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0050439 Usher syndrome susceptibility ISO RGD:736503 D RGD:8547956|PMID:18452394 20140303 RGD DNA:snps, insertion:exon, intron:multiple (human) 628777 Ush2a usherin gene DOID:0050534 congenital stationary night blindness ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:0050563 nonsyndromic deafness ISO RGD:736503 D RGD:8548458|PMID:23767834 20140305 RGD DNA:missense mutations, frameshift mutation, snp:cds, intron:multiple (human) 628777 Ush2a usherin gene DOID:0050563 nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10729113|PMID:10909849|PMID:12525556|PMID:15823922|PMID:16199547|PMID:17085681|PMID:17405132|PMID:18641288|PMID:19683999|PMID:19737284|PMID:20497194|PMID:20507924|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24875298|PMID:24944099|PMID:25252889|PMID:2525289|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:27460420|PMID:27596865|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:29986705|PMID:30311386|PMID:31231422|PMID:32036094|PMID:32531858|PMID:32747562|PMID:34008892 628777 Ush2a usherin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532|PMID:30303587 628777 Ush2a usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:9624053 628777 Ush2a usherin gene DOID:0050646 distal arthrogryposis ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:0050777 Joubert syndrome ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16963483|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29767709|PMID:30245029|PMID:31429209 628777 Ush2a usherin gene DOID:0060041 autism spectrum disorder ISO RGD:736503 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 628777 Ush2a usherin gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:736503 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 628777 Ush2a usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:7240710 20140911 OMIM 628777 Ush2a usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29142287|PMID:29178603|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203967|PMID:34426522|PMID:34781295|PMID:34837038|PMID:34948090|PMID:36314366|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 628777 Ush2a usherin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:20301442|PMID:21569298|PMID:24033266|PMID:25741868|PMID:26667666|PMID:26927203|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30245029 628777 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:12525556|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15823922|PMID:16199547|PMID:16963483|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20052763|PMID:20497194|PMID:20507924|PMID:20513143|PMID:21487335|PMID:21569298|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22135276|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24367894|PMID:24498627|PMID:24875298|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25356976|PMID:25404053|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26629787|PMID:26927203|PMID:27032803|PMID:27160483|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29293505|PMID:29490346|PMID:29625443|PMID:29899460|PMID:29986705|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30948794|PMID:31213501|PMID:31231422|PMID:31456290|PMID:31589614|PMID:32036094|PMID:32037395|PMID:32176120|PMID:32531858|PMID:32552793|PMID:32893482|PMID:33576794|PMID:34426522|PMID:35076463|PMID:36314366|PMID:9536098 628777 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 ISO RGD:736503 D RGD:8694137|PMID:12112664 20140724 RGD DNA:mutations: :multiple 628777 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:8547952|PMID:15025721 20140303 RGD DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) 628777 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:8547962|PMID:17405132 20140303 RGD DNA:mutations:multiple (human) 628777 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:8547965|PMID:18665195 20140304 RGD DNA:insertion, deletions, snps:multiple (human) 628777 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:8547985|PMID:22009552 20140304 RGD DNA:snp:intron:c.7595-2144A>G (human) 628777 Ush2a usherin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736503 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9624053|PMID:15025721 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:7240710 20130221 OMIM 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32093671|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32893482|PMID:33089500 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34203883|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34837038|PMID:35106950|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34837038|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35802133|PMID:36314366|PMID:36633841|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:8547961|PMID:10729113 20140303 RGD DNA:mutations:multiple (human) 628777 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:8547987|PMID:9624053 20140304 RGD DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 628777 Ush2a usherin gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:25741868|PMID:26261414|PMID:26306921|PMID:27032803|PMID:28492532|PMID:28981474|PMID:31213501|PMID:32098976 628777 Ush2a usherin gene DOID:10003 sensorineural hearing loss ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10729113|PMID:10909849|PMID:15015129|PMID:16963483|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25262649|PMID:25333064|PMID:25575603|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28944237|PMID:29293505|PMID:30718709 628777 Ush2a usherin gene DOID:10283 prostate cancer ISO RGD:736503 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9624053|PMID:10775529|PMID:15025721 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8547535|PMID:23701314 20140217 RGD 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31998945|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32646269|PMID:33105608|PMID:33111992|PMID:34031601|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:36314366|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:8547963|PMID:20309401 20140303 RGD DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:8547966|PMID:20507924 20140304 RGD DNA:snps, deletions, insertion:multiple (human) 628777 Ush2a usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:8547967|PMID:10775529 20140304 RGD DNA:missense mutation:cds:p.C759F (human) 628777 Ush2a usherin gene DOID:1432 blindness ISO RGD:736503 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Blindness PMID:15015129|PMID:15043528|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:20513143|PMID:21569298|PMID:24033266|PMID:24498627|PMID:24944099|PMID:25575603|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28492532 628777 Ush2a usherin gene DOID:14791 Leber congenital amaurosis ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10729113|PMID:10909849|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:33105608|PMID:33691693 628777 Ush2a usherin gene DOID:1540 parathyroid carcinoma ISO RGD:736503 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628777 Ush2a usherin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 628777 Ush2a usherin gene DOID:2030 anxiety disorder ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anxiety PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:4448 macular degeneration ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:630 genetic disease ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16098008|PMID:17085681|PMID:17296898|PMID:17405132|PMID:18273898|PMID:18641288|PMID:19023448|PMID:1968399|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:21151602|PMID:21738395|PMID:22004887|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:23591405|PMID:23661369|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25261458|PMID:25262649|PMID:25326637|PMID:25333064|PMID:25375654|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:26355662|PMID:26633545|PMID:26764160|PMID:26872967|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28653555|PMID:28944237|PMID:29283788|PMID:29588463|PMID:29912909|PMID:29953849|PMID:30718709|PMID:31836858|PMID:32188678|PMID:35076463|PMID:9624053 628777 Ush2a usherin gene DOID:8466 retinal degeneration ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:10729113|PMID:10909849|PMID:11311042|PMID:14970843|PMID:15025721|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:18641288|PMID:19683999|PMID:20507924|PMID:23940504|PMID:24033266|PMID:24944099|PMID:25649381|PMID:25741868|PMID:26806561|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33089500|PMID:34948090 628777 Ush2a usherin gene DOID:8501 fundus dystrophy ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33576794|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34599368|PMID:34837038|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 628777 Ush2a usherin gene DOID:9002775 Cognitive Dysfunction ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:9003171 Primary Dysautonomias ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:9004538 Hearing Loss ISO RGD:733684 D RGD:8547954|PMID:17360538 19990101 RGD 628777 Ush2a usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858|PMID:33089500 628777 Ush2a usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858 628777 Ush2a usherin gene DOID:9007661 Dwarfism ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:9008520 Chronic Pain ISO RGD:736503 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 628777 Ush2a usherin gene DOID:9008681 Deafness ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532|PMID:30303587 628777 Ush2a usherin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736503 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628778 Msi1 musashi RNA-binding protein 1 gene DOID:2316 brain ischemia IEP D RGD:633285|PMID:12205668 20061116 RGD 628778 Msi1 musashi RNA-binding protein 1 gene DOID:3454 brain infarction IEP D RGD:1582664|PMID:15250238 20061116 RGD 628778 Msi1 musashi RNA-binding protein 1 gene DOID:630 genetic disease ISO RGD:731816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628779 Clrn1 clarin 1 gene DOID:0050439 Usher syndrome ISO RGD:737108 D RGD:8547535|PMID:23701314 20140217 RGD 628779 Clrn1 clarin 1 gene DOID:0050439 Usher syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:35481838|PMID:7407589 628779 Clrn1 clarin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 628779 Clrn1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:7240710 20140911 OMIM 628779 Clrn1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 61 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28492532|PMID:30311386 628779 Clrn1 clarin 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:737108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17576681|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:21675857|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:35481838|PMID:7407589|PMID:9536098 628779 Clrn1 clarin 1 gene DOID:0110828 Usher syndrome type 3 ISS RGD:734105 D RGD:13592920 20220811 MouseDO 628779 Clrn1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:634439|PMID:12145752 19990101 RGD 628779 Clrn1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:7240710 20130221 OMIM 628779 Clrn1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:26467025|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:35481838|PMID:7407589 628779 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa IAGP D RGD:634439|PMID:12145752 19990101 RGD 628779 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 628779 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8547535|PMID:23701314 20140217 RGD 628779 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22787034|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 628779 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 628779 Clrn1 clarin 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:28492532|PMID:30311386 628779 Clrn1 clarin 1 gene DOID:630 genetic disease ISO RGD:737108 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628779 Clrn1 clarin 1 gene DOID:8501 fundus dystrophy ISO RGD:737108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31836858|PMID:31963381|PMID:35481838 628779 Clrn1 clarin 1 gene DOID:9004538 Hearing Loss ISO RGD:737108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11524702|PMID:12145752|PMID:19753315|PMID:20717163|PMID:22681893|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 628780 Csdc2 cold shock domain containing C2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 628780 Csdc2 cold shock domain containing C2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603657 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 628780 Csdc2 cold shock domain containing C2 gene DOID:630 genetic disease ISO RGD:1603657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628781 Retn resistin gene DOID:0060180 colitis treatment IDA D RGD:7207222|PMID:22630819 20130124 RGD 628781 Retn resistin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349693 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 628781 Retn resistin gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:7207249|PMID:20560816 20130125 RGD protein:increased expression:serum 628781 Retn resistin gene DOID:0080490 mucolipidosis type IV ISO RGD:1349693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 628781 Retn resistin gene DOID:0080600 COVID-19 ISO RGD:1349693 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 628781 Retn resistin gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1349693 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 628781 Retn resistin gene DOID:10763 hypertension ISO RGD:1349693 D RGD:1624968|PMID:12629116 20070515 RGD DNA:SNP:3' utr:*62A>G (human) 628781 Retn resistin gene DOID:11054 urinary bladder cancer ISO RGD:1349693 D RGD:7207154|PMID:18373357 20130122 RGD protein:increased expression:urine 628781 Retn resistin gene DOID:114 heart disease ISO RGD:1349693 D RGD:7207157|PMID:15670203 20130122 RGD associated with Kidney Failure, Chronic;protein:increased expression:serum 628781 Retn resistin gene DOID:11400 pyelonephritis ISO RGD:1349693 D RGD:7207160|PMID:20178460 20130122 RGD protein:increased expression:plasma 628781 Retn resistin gene DOID:11714 gestational diabetes ISO RGD:1349693 D RGD:2307186|PMID:19408175 20090929 RGD protein:increased expression:serum 628781 Retn resistin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349693 D RGD:7207251|PMID:20171599 20130125 RGD DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) 628781 Retn resistin gene DOID:4676 uremia ISO RGD:1349693 D RGD:7207071|PMID:23058473 20130118 RGD protein:increased expression:adipose tissue 628781 Retn resistin gene DOID:5844 myocardial infarction ISO RGD:1349693 D RGD:7207152|PMID:18997620 20130122 RGD protein:increased expression:plasma 628781 Retn resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 628781 Retn resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:7207075|PMID:22240747 20130118 RGD associated with Coronary Disease 628781 Retn resistin gene DOID:630 genetic disease ISO RGD:1349693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628781 Retn resistin gene DOID:783 end stage renal disease ISO RGD:1349693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 628781 Retn resistin gene DOID:783 end stage renal disease severity ISO RGD:1349693 D RGD:7207074|PMID:22421264 20130118 RGD protein:increased expression:serum 628781 Retn resistin gene DOID:784 chronic kidney disease ISO RGD:1349693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22421264 628781 Retn resistin gene DOID:8947 diabetic retinopathy ISO RGD:1349693 D RGD:7207162|PMID:17303077 20130122 RGD associated with Diabetes Mellitus, Type 2 628781 Retn resistin gene DOID:9000528 Coronary Disease ISO RGD:1349693 D RGD:7207156|PMID:17175295 20130122 RGD protein:increased expression:blood 628781 Retn resistin gene DOID:9001542 Albuminuria ISO RGD:1349693 D RGD:7207150|PMID:20203628 20130122 RGD associated with Hypertension;protein:increased expression:blood 628781 Retn resistin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349693 D RGD:7207159|PMID:21425555 20130122 RGD 628781 Retn resistin gene DOID:9004484 Sepsis ISO RGD:1349693 D RGD:7207151|PMID:19545363 20130122 RGD protein:increased expression:serum 628781 Retn resistin gene DOID:9006359 Vitamin D Deficiency IEP D RGD:7207230|PMID:21994008 20130125 RGD mRNA:increased expression:liver 628781 Retn resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18328350 628781 Retn resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:7207155|PMID:17598818 20130122 RGD DNA:SNP:promoter:-420G>C (rs1862513) (human) 628781 Retn resistin gene DOID:9007096 Stroke ISO RGD:1349693 D RGD:2313497|PMID:19269054 20090929 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:promoter:-420G>C (rs1862513) (human) 628781 Retn resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16493877 628781 Retn resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:2313499|PMID:18789551 20090929 RGD 628781 Retn resistin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349693 D RGD:7207148|PMID:21885493 20130122 RGD 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:1624968|PMID:12629116 20070515 RGD DNA:SNP:3' utr:*62A>G (human) 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:2313494|PMID:19738363 20090929 RGD DNA:SNP:promoter:-420G>C (rs1862513) (human) 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:2313497|PMID:19269054 20090929 RGD protein:increased expression:serum 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:2313498|PMID:19177195 20090929 RGD DNA:polymorphism: :299G>A (human) 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:7207163|PMID:15523596 20130122 RGD protein:decreased expression:serum 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO PMID:11558907|PMID:12629116 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349693 D RGD:2313495|PMID:19381781 20090929 RGD DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) 628781 Retn resistin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1349693 D RGD:7240710 20230505 OMIM 628781 Retn resistin gene DOID:9743 diabetic neuropathy ISO RGD:1349693 D RGD:7207161|PMID:17919381 20130122 RGD associated with Diabetes Mellitus, Type 2 628781 Retn resistin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349693 D RGD:7207163|PMID:15523596 20130122 RGD protein:decreased expression:serum 628781 Retn resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:7207072|PMID:22816026 20130118 RGD mRNA, protein:increased expression:subcutaneous adipose tissue, serum 628781 Retn resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:7207155|PMID:17598818 20130122 RGD DNA:SNP:promoter:-420G>C (rs1862513) (human) 628781 Retn resistin gene DOID:9970 obesity ISO RGD:730829 D RGD:7207158|PMID:11201732 20130122 RGD 628781 Retn resistin gene DOID:9976 heroin dependence ISO RGD:1349693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 628782 Pxmp4 peroxisomal membrane protein 4 gene DOID:2843 long QT syndrome ISO RGD:1348847 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 628782 Pxmp4 peroxisomal membrane protein 4 gene DOID:630 genetic disease ISO RGD:1348847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628785 Krt9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:7240710 20130221 OMIM 628785 Krt9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:12072061|PMID:12838553|PMID:1385292|PMID:152116|PMID:17074468|PMID:19106041|PMID:20964665|PMID:22262370|PMID:24862219|PMID:2531643|PMID:25741868|PMID:28492532|PMID:2960371|PMID:30666268|PMID:7511021|PMID:7512862|PMID:7516304|PMID:7523529|PMID:7532199|PMID:8647270|PMID:9204965|PMID:9856842 628785 Krt9 keratin 9 gene DOID:10283 prostate cancer ISO RGD:736715 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 628785 Krt9 keratin 9 gene DOID:3390 palmoplantar keratosis ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7523529 628785 Krt9 keratin 9 gene DOID:630 genetic disease ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12838553|PMID:24862219|PMID:25741868|PMID:28492532|PMID:7512862|PMID:8647270|PMID:9856842 628785 Krt9 keratin 9 gene DOID:9002223 Diffuse Palmoplantar Keratoderma ISO RGD:736715 D RGD:1600065|PMID:7512862 20070227 RGD EPPK, OMIM:144200 628785 Krt9 keratin 9 gene DOID:9007353 Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads ISO RGD:736715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads PMID:12192490|PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7523529 628786 Slc13a3 solute carrier family 13 member 3 gene DOID:10283 prostate cancer ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 628786 Slc13a3 solute carrier family 13 member 3 gene DOID:2234 focal epilepsy ISO RGD:69657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 628786 Slc13a3 solute carrier family 13 member 3 gene DOID:630 genetic disease ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628786 Slc13a3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:7240710 20200415 OMIM 628786 Slc13a3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate PMID:17576681|PMID:23265383|PMID:25741868|PMID:28492532|PMID:30635937|PMID:9536098 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:733679 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:1826 epilepsy ISO RGD:733679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:2717 Bloom syndrome ISO RGD:733679 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:5419 schizophrenia ISO RGD:733679 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:630 genetic disease ISO RGD:733679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:7240710 20220427 OMIM 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:733679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733679 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 628787 Man2c1 mannosidase, alpha, class 2C, member 1 gene DOID:9256 colorectal cancer ISO RGD:733679 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628789 Gpx6 glutathione peroxidase 6 gene DOID:0060041 autism spectrum disorder ISO RGD:735998 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628789 Gpx6 glutathione peroxidase 6 gene DOID:11372 megacolon ISO RGD:735998 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 628789 Gpx6 glutathione peroxidase 6 gene DOID:12858 Huntington's disease ISO RGD:735998 D RGD:13432193|PMID:18588971 20170925 RGD 628789 Gpx6 glutathione peroxidase 6 gene DOID:4001 ovarian carcinoma ISO RGD:735998 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 628789 Gpx6 glutathione peroxidase 6 gene DOID:630 genetic disease ISO RGD:735998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628791 Cops2 COP9 signalosome subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1353959 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628791 Cops2 COP9 signalosome subunit 2 gene DOID:289 endometriosis ISO RGD:1353959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 628791 Cops2 COP9 signalosome subunit 2 gene DOID:630 genetic disease ISO RGD:1353959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628791 Cops2 COP9 signalosome subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1353959 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628792 Slc35a4 solute carrier family 35, member A4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348037 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 628792 Slc35a4 solute carrier family 35, member A4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628792 Slc35a4 solute carrier family 35, member A4 gene DOID:630 genetic disease ISO RGD:1348037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628792 Slc35a4 solute carrier family 35, member A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348037 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628792 Slc35a4 solute carrier family 35, member A4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628795 Usp15 ubiquitin specific peptidase 15 gene DOID:630 genetic disease ISO RGD:733296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628795 Usp15 ubiquitin specific peptidase 15 gene DOID:8552 chronic myeloid leukemia ISO RGD:733296 D RGD:151667904|PMID:31952546 20220412 RGD mRNA, protein:decreased expression:PBMC (human) 628795 Usp15 ubiquitin specific peptidase 15 gene DOID:9743 diabetic neuropathy ISO RGD:733296 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35478295 628796 Prb1 proline-rich protein BstNI subfamily 1 gene DOID:630 genetic disease ISO RGD:1348170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1332044 D RGD:5135283|PMID:21124994 20110719 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 ISO RGD:1348195 D RGD:30296676|PMID:32416070 20200616 RGD protein:increased expression:serum: 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 ISO RGD:1348195 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 severity ISO RGD:1348195 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1332044 D RGD:30309198|PMID:30626685 20200618 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0081267 graft-versus-host disease ISO RGD:1332044 D RGD:5135435|PMID:19218194 20110720 RGD mRNA, protein:increased expression:intestine, liver, lung 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:10247 pleurisy ISO RGD:1332044 D RGD:5135449|PMID:14527170 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:10533 viral pneumonia ISO RGD:1332044 D RGD:5135437|PMID:17655904 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:10608 celiac disease ISO RGD:1348195 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1205 allergic disease ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1332044 D RGD:5135444|PMID:15916706 20110720 RGD protein:increased expression:respiratory system fluid/secretion 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:13001 carotid stenosis ISO RGD:1348195 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348195 D RGD:5135438|PMID:17550373 20110720 RGD protein:increased expression:serum, respiratory system fluid/secretion 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:13949 interstitial cystitis ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1348195 D RGD:5135442|PMID:16014397 20110720 RGD mRNA:increased expression:aorta 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:14095 boutonneuse fever ISO RGD:1332044 D RGD:5135450|PMID:14507644 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1485 cystic fibrosis ISO RGD:1348195 D RGD:5135456|PMID:19597126 20110721 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1790 malignant mesothelioma ISO RGD:1348195 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1332044 D RGD:5135441|PMID:16709871 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1332044 D RGD:5135451|PMID:12097412 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348195 D RGD:5135451|PMID:12097412 20110720 RGD protein:increased expression:respiratory system fluid/secretion 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2841 asthma ISO RGD:1332044 D RGD:5135447|PMID:15210824 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:289 endometriosis ISO RGD:1348195 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1332044 D RGD:4891446|PMID:19906920 20110719 RGD mRNA, protein:increased expression:lung 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:30309221|PMID:15356152 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:32716399|PMID:15602737 20200629 RGD protein:increased expression:serum (human) 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:34201108|PMID:15888207 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1348195 D RGD:30309218|PMID:16195357 20200702 RGD protein:increased expression:plasma (human) 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1348195 D RGD:30309220|PMID:15781938 20200619 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3082 interstitial lung disease ISO RGD:1348195 D RGD:5135305|PMID:19816001 20110719 RGD protein:increased expression:alveolar macrophage 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3082 interstitial lung disease ISO RGD:1348195 D RGD:5135306|PMID:19565490 20110719 RGD protein:increased expression:serum 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348195 D RGD:4892070|PMID:19229703 20110719 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348195 D RGD:5135436|PMID:17925429 20110720 RGD protein:increased expression:sputum 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:399 tuberculosis ISO RGD:1348195 D RGD:5135308|PMID:19281538 20110719 RGD protein:increased expression:serum 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:418 systemic scleroderma ISO RGD:1348195 D RGD:5135279|PMID:21303517 20110719 RGD protein:increased expression:serum 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:418 systemic scleroderma ISO RGD:1348195 D RGD:5135284|PMID:21049277 20140129 RGD protein:increased expression:serum 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1332044 D RGD:5135445|PMID:15265940 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1348195 D RGD:5135440|PMID:17052299 20110720 RGD protein:increased expression:serum 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:630 genetic disease ISO RGD:1348195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1332044 D RGD:5135448|PMID:14991597 20110720 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1348195 D RGD:5135490|PMID:15725351 20110722 RGD mRNA:increased expression:alveolar macrophage 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:8544 chronic fatigue syndrome ISO RGD:1348195 D RGD:11538286|PMID:26615570 20191112 RGD protein:decreased expression:plasma: 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:874 bacterial pneumonia ISO RGD:1332044 D RGD:5135459|PMID:15618188 20110721 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1348195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1348195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1332044 D RGD:5135285|PMID:20381636 20110719 RGD protein:increased expression:lung 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1332044 D RGD:5683877|PMID:21273392 20110719 RGD protein:increased expression:respiratory system fluid/secretion 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9003617 Carrington Syndrome ISO RGD:1348195 D RGD:5135443|PMID:15956791 20110720 RGD protein:increased expression:respiratory system fluid/secretion 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1332044 D RGD:5135307|PMID:19433855 20110719 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1348195 D RGD:4891406|PMID:20182399 20110719 RGD protein:increased expression:nasal mucus 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis IEP D RGD:1598501|PMID:15843529 20110722 RGD 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348195 D RGD:4892104|PMID:15526056 20110722 RGD protein:increased expression:lung, lymphocyte 628798 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:986 alopecia areata ISO RGD:1348195 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 628799 Cst6 cystatin E/M gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISS RGD:733622 D RGD:13592920 20180518 MouseDO OMIM:242500 628799 Cst6 cystatin E/M gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352727 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 628799 Cst6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:7240710 20190904 OMIM 628799 Cst6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type PMID:25741868|PMID:30425301 628799 Cst6 cystatin E/M gene DOID:1059 intellectual disability ISO RGD:1352727 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628799 Cst6 cystatin E/M gene DOID:1909 melanoma ISO RGD:1352727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 628799 Cst6 cystatin E/M gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628799 Cst6 cystatin E/M gene DOID:2746 glycogen storage disease V ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628799 Cst6 cystatin E/M gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 628799 Cst6 cystatin E/M gene DOID:630 genetic disease ISO RGD:1352727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628799 Cst6 cystatin E/M gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 628799 Cst6 cystatin E/M gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 628799 Cst6 cystatin E/M gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628799 Cst6 cystatin E/M gene DOID:9008939 Breast Neoplasms ISO RGD:1352727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043665 628801 Cthrc1 collagen triple helix repeat containing 1 gene DOID:0111590 Cohen syndrome ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 628801 Cthrc1 collagen triple helix repeat containing 1 gene DOID:630 genetic disease ISO RGD:1352911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628801 Cthrc1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:7240710 20141015 OMIM 628801 Cthrc1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690 628802 Retsat retinol saturase gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:731874 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19139408 628802 Retsat retinol saturase gene DOID:630 genetic disease ISO RGD:731874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628803 Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:1825 childhood absence epilepsy ISO RGD:736548 D RGD:728397|PMID:11904235 19990101 RGD 628803 Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:4448 macular degeneration susceptibility ISO RGD:736548 D RGD:13524556|PMID:21169531 20180419 RGD DNA:SNPs: : 628803 Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:630 genetic disease ISO RGD:736548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628804 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:630 genetic disease ISO RGD:735495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628804 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13524560|PMID:27096430 20180419 RGD mRNA:decreased expression:sinoatrial node: 628804 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9408 acute myocardial infarction ISO RGD:735495 D RGD:13524557|PMID:27746059 20180419 RGD mRNA:decreased expression:blood: 628805 Cacng5 calcium voltage-gated channel auxiliary subunit gamma 5 gene DOID:630 genetic disease ISO RGD:734378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628806 Cacng6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735845 D RGD:13524562|PMID:20860846 20180420 RGD DNA:SNP,haplotype:rs192808(human) 628806 Cacng6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:630 genetic disease ISO RGD:735845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628807 Cacng7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:1059 intellectual disability ISO RGD:732586 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 628807 Cacng7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:630 genetic disease ISO RGD:732586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628808 Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:10939 antisocial personality disorder ISS RGD:732323 D RGD:13592920 20220407 MouseDO 628808 Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:732322 D RGD:11353143|PMID:26710323 20180420 RGD mRNA,protein:decreased expression:left ventricule: 628808 Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:630 genetic disease ISO RGD:732322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:0060041 autism spectrum disorder ISO RGD:731629 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:0080600 COVID-19 ISO RGD:731629 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:731629 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:12177 common variable immunodeficiency ISO RGD:731629 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:2729 dyskeratosis congenita ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 628809 Alox15b arachidonate 15-lipoxygenase, type B gene DOID:630 genetic disease ISO RGD:731629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628810 Vps4a vacuolar protein sorting 4 homolog A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 628810 Vps4a vacuolar protein sorting 4 homolog A gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:732193 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 628810 Vps4a vacuolar protein sorting 4 homolog A gene DOID:630 genetic disease ISO RGD:732193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628810 Vps4a vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:7240710 20210519 OMIM 628810 Vps4a vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 628811 Slc4a9 solute carrier family 4 member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:730837 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 628811 Slc4a9 solute carrier family 4 member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628811 Slc4a9 solute carrier family 4 member 9 gene DOID:630 genetic disease ISO RGD:730837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628811 Slc4a9 solute carrier family 4 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730837 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628811 Slc4a9 solute carrier family 4 member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628812 Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 628812 Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 628812 Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:10283 prostate cancer ISO RGD:1603017 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 628812 Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1603017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628812 Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1582364|PMID:12765946 20210219 RGD 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348583 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:10286 prostate carcinoma ISO RGD:1348583 D RGD:41410436|PMID:26317032 20210210 RGD mRNA:decreased expression:prostate gland (human) 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1348583 D RGD:41410435|PMID:28236339 20210210 RGD protein:missense mutation:CDS:p.D172N (human) 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:12849 autistic disorder ISO RGD:1348583 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:3393 coronary artery disease ISO RGD:1552505 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:7240710 20190315 OMIM 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures PMID:25741868|PMID:28236339|PMID:34570399|PMID:35790048 628813 Sars1 seryl-tRNA synthetase 1 gene DOID:9005811 HUPRA Syndrome ISO RGD:1348583 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:25741868|PMID:28492532 628814 Fzd3 frizzled class receptor 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 628814 Fzd3 frizzled class receptor 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732935 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 628814 Fzd3 frizzled class receptor 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 628814 Fzd3 frizzled class receptor 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732935 D RGD:1582654|PMID:9147651 20061116 RGD 628814 Fzd3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:1582649|PMID:14642436 20061116 RGD 628814 Fzd3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:1582650|PMID:15274031 20061116 RGD 628814 Fzd3 frizzled class receptor 3 gene DOID:5419 schizophrenia no_association ISO RGD:732935 D RGD:1582651|PMID:15657645 20061116 RGD 628814 Fzd3 frizzled class receptor 3 gene DOID:630 genetic disease ISO RGD:732935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628814 Fzd3 frizzled class receptor 3 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:732935 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 628814 Fzd3 frizzled class receptor 3 gene DOID:9256 colorectal cancer ISO RGD:732935 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 628815 Slc17a3 solute carrier family 17 member 3 gene DOID:13189 gout ISO RGD:1344101 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 628815 Slc17a3 solute carrier family 17 member 3 gene DOID:13189 gout ISO RGD:1344101 D RGD:8554872 20181002 ClinVar ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 PMID:20810651 628815 Slc17a3 solute carrier family 17 member 3 gene DOID:13189 gout susceptibility ISO RGD:1344101 D RGD:7240710 20230505 OMIM 628815 Slc17a3 solute carrier family 17 member 3 gene DOID:630 genetic disease ISO RGD:1344101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628816 Fzd6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:7240710 20200408 OMIM 628816 Fzd6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1 PMID:21665003|PMID:22211385|PMID:23374899|PMID:25741868|PMID:26036949 628816 Fzd6 frizzled class receptor 6 gene DOID:0111590 Cohen syndrome ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 628816 Fzd6 frizzled class receptor 6 gene DOID:13938 amenorrhea ISO RGD:1343855 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 628816 Fzd6 frizzled class receptor 6 gene DOID:2154 nephroblastoma ISO RGD:1343855 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 628816 Fzd6 frizzled class receptor 6 gene DOID:4123 nail disease ISO RGD:1343855 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Nail disease PMID:21665003|PMID:22211385 628816 Fzd6 frizzled class receptor 6 gene DOID:630 genetic disease ISO RGD:1343855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628816 Fzd6 frizzled class receptor 6 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343855 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 628817 Fzd9 frizzled class receptor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734067 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 628817 Fzd9 frizzled class receptor 9 gene DOID:10923 sickle cell anemia ISO RGD:734067 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 628817 Fzd9 frizzled class receptor 9 gene DOID:12849 autistic disorder ISO RGD:734067 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628817 Fzd9 frizzled class receptor 9 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 628817 Fzd9 frizzled class receptor 9 gene DOID:1928 Williams-Beuren syndrome ISS RGD:734068 D RGD:13592920 20180518 MouseDO OMIM:194050 628817 Fzd9 frizzled class receptor 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734067 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628817 Fzd9 frizzled class receptor 9 gene DOID:5419 schizophrenia ISO RGD:734067 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628817 Fzd9 frizzled class receptor 9 gene DOID:630 genetic disease ISO RGD:734067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628817 Fzd9 frizzled class receptor 9 gene DOID:8445 intestinal volvulus ISO RGD:734067 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 628817 Fzd9 frizzled class receptor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734067 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628817 Fzd9 frizzled class receptor 9 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734067 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 628820 Trpc7 transient receptor potential cation channel, subfamily C, member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628820 Trpc7 transient receptor potential cation channel, subfamily C, member 7 gene DOID:1324 lung cancer susceptibility ISO RGD:1349355 D RGD:152995362|PMID:27617218 20220615 RGD DNA:SNPs:: (rs11748198) (human) 628820 Trpc7 transient receptor potential cation channel, subfamily C, member 7 gene DOID:630 genetic disease ISO RGD:1349355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628820 Trpc7 transient receptor potential cation channel, subfamily C, member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349355 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628820 Trpc7 transient receptor potential cation channel, subfamily C, member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628821 Mx2 MX dynamin like GTPase 2 gene DOID:12849 autistic disorder ISO RGD:1351068 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628821 Mx2 MX dynamin like GTPase 2 gene DOID:1909 melanoma ISO RGD:1351068 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 628821 Mx2 MX dynamin like GTPase 2 gene DOID:630 genetic disease ISO RGD:1351068 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628821 Mx2 MX dynamin like GTPase 2 gene DOID:9001488 Human Influenza ISO RGD:1351068 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 628821 Mx2 MX dynamin like GTPase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351068 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628822 Stab2 stabilin 2 gene DOID:630 genetic disease ISO RGD:1349105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628822 Stab2 stabilin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349105 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 628822 Stab2 stabilin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349105 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602868 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:7240710 20130221 OMIM 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:21667357|PMID:22281939|PMID:22615817|PMID:23613367|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:27545679|PMID:27864101|PMID:28492532|PMID:29150909|PMID:29499418|PMID:29620724|PMID:32123938|PMID:32770541|PMID:3545499|PMID:9536098 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:22615817|PMID:25741868|PMID:27864101|PMID:28492532|PMID:32770541 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18566967 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:28492532|PMID:31319225|PMID:9536098 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28492532|PMID:29150909|PMID:31319225|PMID:9536098 628823 P3h1 prolyl 3-hydroxylase 1 gene DOID:630 genetic disease ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628824 Rhov ras homolog family member V gene DOID:2717 Bloom syndrome ISO RGD:1604729 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628824 Rhov ras homolog family member V gene DOID:630 genetic disease ISO RGD:1604729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628824 Rhov ras homolog family member V gene DOID:9256 colorectal cancer ISO RGD:1604729 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:1601044|PMID:15940697 20070405 RGD DNA:missense mutations:cds:p.G342V, p.Y371F (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:6906932|PMID:20016754 20121022 RGD DNA:mutations:multiple (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:731203|PMID:12881724 19990101 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Idiopathic infantile arterial calcification PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:733393 D RGD:13204734|PMID:23798568 20170717 RGD DNA:missense mutation:cds:p.V246D (mouse) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:1351327 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive PMID:10453738|PMID:11771660|PMID:16025115|PMID:16609882|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9662402 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine ISS RGD:733393 D RGD:13592920 20190321 MouseDO OMIM:602475 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine severity ISO RGD:1351327 D RGD:13204732|PMID:15834329 20170717 RGD DNA:deletion:intron:IVS20-11delT (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0080333 aortic valve disease 1 IEP D RGD:12914785|PMID:22659116 20170712 RGD mRNA:increased expression:aorta (rat) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:10754 otitis media ISS RGD:733393 D RGD:13592920 20191003 MouseDO OMIM:166760 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1123 spondyloarthropathy ISS RGD:733393 D RGD:13592920 20180518 MouseDO OMIM:106300 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1214 tympanosclerosis ISS RGD:733393 D RGD:13592920 20191003 MouseDO 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1351327 D RGD:6906933|PMID:21282363 20121022 RGD 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:289 endometriosis ISO RGD:1351327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:3068 glioblastoma severity ISO RGD:1351327 D RGD:13204719|PMID:21195542 20170714 RGD protein:increased expression:brain (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:783 end stage renal disease ISO RGD:1351327 D RGD:6906927|PMID:18184924 20121022 RGD Associated with Type 2 diabetes 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:8398 osteoarthritis ISS RGD:733393 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000815 Aortic Calcification ISO RGD:733393 D RGD:13204716|PMID:15625282 20170714 RGD 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:7240710 20230510 OMIM 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cole disease PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19380683|PMID:20981035|PMID:24033266|PMID:24075184|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:6906930|PMID:20137773 20121022 RGD 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:6906931|PMID:20137772 20121022 RGD DNA:missense mutation:cds:p.Y901S (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:7240710 20230510 OMIM 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:16025115|PMID:16315058|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19229237|PMID:20016754|PMID:20137772|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28492532|PMID:28973083|PMID:29244957|PMID:29979387|PMID:31826312|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9662402 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351327 D RGD:6906926|PMID:19506043 20121022 RGD 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1351327 D RGD:6906933|PMID:21282363 20121022 RGD Associated with obesity 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9003781 Ossification of Posterior Longitudinal Ligament ISO RGD:1351327 D RGD:1601041|PMID:10453738 20070405 RGD OPLL,OMIM:602475;DNA:polymorphism 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351327 D RGD:6906934|PMID:21602183 20121022 RGD Associated with end stage renal disease 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:7240710 20230510 OMIM 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:10453738|PMID:10480624|PMID:11159191|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:15940697|PMID:16025115|PMID:16315058|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:17576681|PMID:18950909|PMID:19206175|PMID:19229237|PMID:20016754|PMID:20137773|PMID:20981035|PMID:22209248|PMID:22539483|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28492532|PMID:28973083|PMID:29141319|PMID:29244957|PMID:29979387|PMID:31444901|PMID:31805212|PMID:31826312|PMID:32573669|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9536098|PMID:9662402 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1351327 D RGD:13204735|PMID:23422753 20170717 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:p.K173Q (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1351327 D RGD:13204736|PMID:23861746 20170717 RGD associated with Breast Neoplasms;mRNA:increased expression:bone element (human) 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1351327 D RGD:1601043|PMID:10480624 20070405 RGD DNA:polymorphism:K121Q 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10480624|PMID:11739459|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9008221 Medial Coronary Sclerosis of Infancy ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy PMID:15940697|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9278 hyperargininemia ISO RGD:1351327 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:1601042|PMID:16025115 20070405 RGD NIDDM,OMIM:125853;DNA:polymorphism 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:7240710 20230510 OMIM 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466|PMID:9662402 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:1601042|PMID:16025115 20070405 RGD Obesity, OMIM:601665;DNA:polymorphism 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:7240710 20230510 OMIM 628825 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Obesity PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15677494|PMID:16025115|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1353445 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1353445 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:10283 prostate cancer ISO RGD:1353445 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment IDA D RGD:7364759|PMID:16240224 20130926 RGD 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:1324 lung cancer ISO RGD:1353445 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353445 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1552161 D RGD:7364748|PMID:20309575 20130925 RGD 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:1353445 D RGD:2325167|PMID:10209489 20100521 RGD protein:increased expression: : 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:1353445 D RGD:2325166|PMID:15998373 20100521 RGD associated with bile duct neoplasms; protein:increased expression:bile duct 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1353445 D RGD:2325167|PMID:10209489 20100521 RGD protein:increased expression: : 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:5409 lung small cell carcinoma ISO RGD:1353445 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1353445 D RGD:2324651|PMID:15260848 20100521 RGD protein:decreased expression:gallbladder 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000217 Stomach Neoplasms ISO RGD:1353445 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1353445 D RGD:2325159|PMID:18410610 20100521 RGD associated with cholangiocarcinoma 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353445 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 628826 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9008114 Helicobacter Infections ISO RGD:1353445 D RGD:7364760|PMID:15280409 20130926 RGD protein:increased expression:stomach epithelium 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:731848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:25741868|PMID:34008892 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:731848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:0112313 brain small vessel disease ISO RGD:731848 D RGD:10448981|PMID:23083441 20151210 RGD DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human) 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:10762 portal hypertension treatment IEP D RGD:10448995|PMID:24497272 20151210 RGD associated with Cholestasis 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:13580 cholestasis ISO RGD:736119 D RGD:10448995|PMID:24497272 20151210 RGD 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731848 D RGD:10448995|PMID:24497272 20151210 RGD 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:1459 hypothyroidism IEP D RGD:10448989|PMID:1315530 20151210 RGD 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:630 genetic disease ISO RGD:731848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:7998 hyperthyroidism IEP D RGD:10448989|PMID:1315530 20151210 RGD 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736119 D RGD:10448995|PMID:24497272 20151210 RGD 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:10448992|PMID:23637135 20151210 RGD 628827 Nr1d1 nuclear receptor subfamily 1, group D, member 1 gene DOID:9452 fatty liver disease ISO RGD:731848 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 628828 Nr1d2 nuclear receptor subfamily 1, group D, member 2 gene DOID:0050651 atrioventricular septal defect ISO RGD:737421 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:27058611 628828 Nr1d2 nuclear receptor subfamily 1, group D, member 2 gene DOID:0050651 atrioventricular septal defect ISS RGD:737422 D RGD:13592920 20180518 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 628828 Nr1d2 nuclear receptor subfamily 1, group D, member 2 gene DOID:289 endometriosis ISO RGD:737421 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 628828 Nr1d2 nuclear receptor subfamily 1, group D, member 2 gene DOID:630 genetic disease ISO RGD:737421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:736951 D RGD:9831375|PMID:11124984 20150304 RGD 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:3068 glioblastoma ISO RGD:736950 D RGD:9686067|PMID:18474104 20150129 RGD mRNA:splice variant (human) 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:630 genetic disease ISO RGD:736950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:9005278 Developmental and Epileptic Encephalopathy 103 ISO RGD:736950 D RGD:7240710 20220629 OMIM 628829 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:9005278 Developmental and Epileptic Encephalopathy 103 ISO RGD:736950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 103 PMID:25741868|PMID:28492532|PMID:31972370|PMID:32392612|PMID:34448338|PMID:35314505 628830 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15965244 628830 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8547536|PMID:20212494 20140217 RGD 628830 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 628830 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 628830 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 628830 Myo7a myosin VIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10094549|PMID:10930322|PMID:15300860|PMID:15823922|PMID:16199547|PMID:22135276|PMID:23770805|PMID:23804846|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26445815|PMID:26969326|PMID:27460420|PMID:27573290|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32097363|PMID:8900236 628830 Myo7a myosin VIIA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:18181211|PMID:19074810|PMID:20052763|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22898263|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24194196|PMID:25404053|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25798947|PMID:26226137|PMID:26791358|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29692870|PMID:30303587|PMID:30718709|PMID:31479088|PMID:33187236|PMID:33269433|PMID:8900236 628830 Myo7a myosin VIIA gene DOID:0060744 Pendred syndrome ISO RGD:732206 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:24033266|PMID:28492532|PMID:30311386|PMID:30718709 628830 Myo7a myosin VIIA gene DOID:0080600 COVID-19 ISO RGD:732206 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628830 Myo7a myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:7240710 20130221 OMIM 628830 Myo7a myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 628830 Myo7a myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:7240710 20130221 OMIM 628830 Myo7a myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 11 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16449806|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19461658|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21873662|PMID:22135276|PMID:22681893|PMID:22690115|PMID:22785243|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:25080338|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27610647|PMID:27729122|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28041643|PMID:28472130|PMID:28492532|PMID:28802369|PMID:28944237|PMID:29048421|PMID:29196752|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30718709|PMID:30881389|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32681043|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33363762|PMID:33576163|PMID:33576794|PMID:34652575|PMID:35802133|PMID:36633841|PMID:8900236|PMID:9002678|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356 628830 Myo7a myosin VIIA gene DOID:0110826 Usher syndrome type 1 ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10094549|PMID:10364543|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12080385|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16786533|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22593002|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26469752|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 628830 Myo7a myosin VIIA gene DOID:0110826 Usher syndrome type 1 ISO RGD:732206 D RGD:8694152|PMID:15592175 20140725 RGD DNA:insertion:CDS:c.2663_2664insA (human) 628830 Myo7a myosin VIIA gene DOID:0110826 Usher syndrome type 1 ISS RGD:732207 D RGD:13592920 20180518 MouseDO OMIM:276900 628830 Myo7a myosin VIIA gene DOID:0110827 Usher syndrome type 2 ISO RGD:732206 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 628830 Myo7a myosin VIIA gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:28492532 628830 Myo7a myosin VIIA gene DOID:0111590 Cohen syndrome ISO RGD:732206 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 628830 Myo7a myosin VIIA gene DOID:10003 sensorineural hearing loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:16449806|PMID:19461658|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28802369|PMID:30311386|PMID:34652575 628830 Myo7a myosin VIIA gene DOID:10003 sensorineural hearing loss ISO RGD:732206 D RGD:8694138|PMID:24194196 20140724 RGD DNA:missense mutation:exon:c.5660C>T (p.P1887L) (human) 628830 Myo7a myosin VIIA gene DOID:10584 retinitis pigmentosa ISO RGD:732206 D RGD:8547536|PMID:20212494 20140217 RGD 628830 Myo7a myosin VIIA gene DOID:10584 retinitis pigmentosa ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10094549|PMID:19074810|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27957503|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30718709|PMID:8900236 628830 Myo7a myosin VIIA gene DOID:1059 intellectual disability ISO RGD:732206 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628830 Myo7a myosin VIIA gene DOID:14791 Leber congenital amaurosis ISO RGD:732206 D RGD:11537385|PMID:21901789 20170712 RGD DNA:missense mutation:cds:c.578C>T (p.T193I)(human) 628830 Myo7a myosin VIIA gene DOID:1909 melanoma ISO RGD:732206 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 628830 Myo7a myosin VIIA gene DOID:3426 vestibular disease ISO RGD:732207 D RGD:4892285|PMID:9680294 19990101 RGD DNA:mutations:cds:multiple (mouse) 628830 Myo7a myosin VIIA gene DOID:630 genetic disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094549|PMID:10930322|PMID:15043528|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:17361009|PMID:17576681|PMID:18463160|PMID:18484607|PMID:19683999|PMID:20052763|PMID:20513143|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24199935|PMID:25404053|PMID:25525159|PMID:25741868|PMID:26226137|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28944237|PMID:30303587|PMID:30311386|PMID:30459346|PMID:31479088|PMID:8900236|PMID:9536098 628830 Myo7a myosin VIIA gene DOID:8501 fundus dystrophy ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20497194|PMID:20513143|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23148716|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24199935|PMID:24831256|PMID:25080338|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25575603|PMID:25741868|PMID:25788563|PMID:26338283|PMID:26486028|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29490346|PMID:30303587|PMID:30390570|PMID:30459346|PMID:31266775|PMID:31479088|PMID:31836858|PMID:32747562|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9259201|PMID:9382091|PMID:9536098 628830 Myo7a myosin VIIA gene DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B IAGP D RGD:1581470|PMID:15965244 20140725 RGD DNA:nonsense mutation 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:7240710 20130731 OMIM 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30029497|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33269433|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8694135|PMID:8900236 20140724 RGD DNA:mutations: :multiple 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8694137|PMID:12112664 20140724 RGD DNA:mutations: :multiple 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732207 D RGD:8694151|PMID:23991031 20140725 RGD 628830 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B treatment ISO RGD:732206 D RGD:8694151|PMID:23991031 20140725 RGD 628830 Myo7a myosin VIIA gene DOID:9004538 Hearing Loss ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:21436283|PMID:21873662|PMID:22135276|PMID:23208854|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26486028|PMID:26969326|PMID:27068579|PMID:27160483|PMID:28492532|PMID:30311386|PMID:30872814|PMID:8900236|PMID:9259201 628830 Myo7a myosin VIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 628830 Myo7a myosin VIIA gene DOID:9008681 Deafness IAGP D RGD:1581470|PMID:15965244 20170713 RGD DNA:nonsense mutation:cds 628830 Myo7a myosin VIIA gene DOID:9008681 Deafness ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:22135276|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 628830 Myo7a myosin VIIA gene DOID:9008681 Deafness ISO RGD:732207 D RGD:4892285|PMID:9680294 19990101 RGD DNA:mutations:cds:multiple (mouse) 628830 Myo7a myosin VIIA gene DOID:9008681 Deafness ISO RGD:732207 D RGD:8694136|PMID:22381527 20140724 RGD DNA:deletions:exons 628830 Myo7a myosin VIIA gene DOID:9649 congenital nystagmus ISO RGD:732206 D RGD:11537385|PMID:21901789 20170712 RGD associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) 628830 Myo7a myosin VIIA gene DOID:9849 Meniere's disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:15221449|PMID:16470552|PMID:20146813|PMID:21487335|PMID:22681893|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28000701|PMID:28492532|PMID:30303587|PMID:30459346|PMID:33363762 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0050868 hepatocellular adenoma ISO RGD:734104 D RGD:14696794|PMID:17183066 20190725 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:7240710 20190315 OMIM 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 PMID:11030617|PMID:17681172|PMID:21633855|PMID:24806754|PMID:25741868|PMID:26888176|PMID:28492532|PMID:31201556 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease PMID:11030617|PMID:21633855|PMID:26888176|PMID:28492532 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734103 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:734104 D RGD:14696797|PMID:29743187 20190725 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression IEP D RGD:15045604|PMID:23117815 20191218 RGD mRNA:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:734104 D RGD:14701033|PMID:23700488 20190917 RGD DNA:deletion:cds:exon 9 (mouse) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:15090799|PMID:30257410 20200102 RGD mRNA:increased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:734104 D RGD:15045573|PMID:12971955 20191218 RGD cholic acid fed FXR-/- mouse 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:734103 D RGD:15045601|PMID:28774887 20191218 RGD mRNA:increased expression:liver (human) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:15092090|PMID:30038487 20200106 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:10762 portal hypertension treatment IMP D RGD:15042868|PMID:19418582 20191213 RGD associated with liver cirrhosis;mRNA:altered expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:734103 D RGD:14928336|PMID:29968724 20190917 RGD mRNA,protein:decreased expression:liver (human) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:12336 male infertility ISO RGD:734103 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30245210 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis IEP D RGD:15045597|PMID:30077711 20191218 RGD mRNA:increased expression:ileum (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:23178280 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis severity ISO RGD:734104 D RGD:14701031|PMID:12949728 20190904 RGD mutant FXR-/- mouse 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis treatment IEP D RGD:15042872|PMID:29235094 20191213 RGD mRNA, protein:altered expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis treatment IEP D RGD:15045612|PMID:30223280 20191218 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis treatment IEP D RGD:15090804|PMID:27090119 20200103 RGD mRNA:altered expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13580 cholestasis treatment IEP D RGD:15092071|PMID:30061734 20200103 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13619 extrahepatic cholestasis IDA D RGD:1625205|PMID:14623915 20070529 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:734103 D RGD:14928333|PMID:22057115 20190917 RGD human gene in mouse model 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13619 extrahepatic cholestasis disease_progression IEP D RGD:15042871|PMID:29138817 20191213 RGD protein:increased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:13619 extrahepatic cholestasis treatment IEP D RGD:14995480|PMID:29360226 20191213 RGD mRNA:increased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:1852 intrahepatic cholestasis IDA D RGD:1625202|PMID:15644430 20070529 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:1936 atherosclerosis ISO RGD:734103 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:30996006 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:409 liver disease ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22130247 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:4947 cholangiocarcinoma disease_progression IEP D RGD:15090822|PMID:24255171 20200102 RGD mRNA:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:734104 D RGD:15042868|PMID:19418582 20191213 RGD mRNA:altered expression:liver (mouse) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:5082 liver cirrhosis treatment IEP D RGD:15042865|PMID:30308196 20191212 RGD mRNA:altered expression:liver, kidney (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:630 genetic disease ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811326|PMID:25496033 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:14928330|PMID:23213087 20190917 RGD mRNA:splice variant(s):liver (human) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:14928334|PMID:24954587 20190917 RGD intestinally expressed human gene in mouse model 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:14696796|PMID:23811326 20190725 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:8778 Crohn's disease ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:734103 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:30996006 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:15045598|PMID:24259407 20191218 RGD associated with portal hypertension;mRNA;decreased expression;liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:14701034|PMID:27993716 20190904 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment IMP D RGD:1625201|PMID:15980055 20191218 RGD mRNA:altered expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9001586 Experimental Liver Neoplasms susceptibility ISO RGD:734104 D RGD:14701032|PMID:17283114 20190904 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9002245 Intestinal Neoplasms ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23178280 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9005369 Hepatomegaly ISO RGD:734103 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9005372 Inflammation ISO RGD:734103 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625080|PMID:15047603 20070518 RGD mRNA:decreased expression:liver 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9005749 Necrosis ISO RGD:734103 D RGD:11554173 20190910 CTD CTD Direct Evidence: therapeutic PMID:30996006 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9006205 Animal Disease Models ISO RGD:734103 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007188 Liver Neoplasms ISO RGD:734103 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:23178280|PMID:24091600|PMID:24189133|PMID:29142166|PMID:30556042 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:15045609|PMID:28827769 20191218 RGD mRNA:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12875239 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity IEP D RGD:15042870|PMID:30068870 20191213 RGD protein:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:734104 D RGD:14701036|PMID:22711662 20190904 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734104 D RGD:14701035|PMID:20573685 20190904 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:734104 D RGD:1625076|PMID:16557297 20070518 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9007755 Intestinal Reperfusion Injury disease_progression IEP D RGD:15042883|PMID:23331901 20191213 RGD mRNA:decreased expression:liver (rat) 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:734103 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22135065 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9452 fatty liver disease ISO RGD:734103 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9452 fatty liver disease severity ISO RGD:734104 D RGD:14696795|PMID:23104131 20190725 RGD knockout eliminates treatment effectiveness 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9452 fatty liver disease treatment ISO RGD:734104 D RGD:15045573|PMID:12971955 20191218 RGD 628831 Nr1h4 nuclear receptor subfamily 1, group H, member 4 gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 628832 Kcng3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:3883 Lynch syndrome ISO RGD:735863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 628832 Kcng3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:630 genetic disease ISO RGD:735863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628833 Art3 ADP-ribosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1320437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628833 Art3 ADP-ribosyltransferase 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 628833 Art3 ADP-ribosyltransferase 3 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1320437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 628834 Art5 ADP-ribosyltransferase 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 628834 Art5 ADP-ribosyltransferase 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347628 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 628834 Art5 ADP-ribosyltransferase 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 628834 Art5 ADP-ribosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628835 Gpr37l1 G protein-coupled receptor 37-like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 628835 Gpr37l1 G protein-coupled receptor 37-like 1 gene DOID:13938 amenorrhea ISO RGD:1606828 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 628835 Gpr37l1 G protein-coupled receptor 37-like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628835 Gpr37l1 G protein-coupled receptor 37-like 1 gene DOID:630 genetic disease ISO RGD:1606828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628835 Gpr37l1 G protein-coupled receptor 37-like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 628835 Gpr37l1 G protein-coupled receptor 37-like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606828 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628836 Wrnip1 WRN helicase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1346094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628837 Actb actin, beta gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome PMID:10327243|PMID:12325076|PMID:1415343|PMID:16685646|PMID:19252504|PMID:22366783|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9714430 628837 Actb actin, beta gene DOID:0080208 non-alcoholic fatty liver disease IDA D RGD:11541097|PMID:25282656 20161007 RGD protein:increased carbonylation:liver 628837 Actb actin, beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:7240710 20141015 OMIM 628837 Actb actin, beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation PMID:10327243|PMID:10411937|PMID:10928857|PMID:11311002|PMID:12325076|PMID:1415343|PMID:16685646|PMID:17576681|PMID:18414213|PMID:19252504|PMID:22366783|PMID:23649928|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25156961|PMID:25255767|PMID:25640679|PMID:25741868|PMID:25979418|PMID:26275891|PMID:26467025|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:30733661|PMID:31625567|PMID:31970217|PMID:32860008|PMID:32901917|PMID:33446253|PMID:9536098|PMID:9714430 628837 Actb actin, beta gene DOID:10003 sensorineural hearing loss ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 628837 Actb actin, beta gene DOID:1059 intellectual disability ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25052316|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29220674|PMID:30733661|PMID:31625567 628837 Actb actin, beta gene DOID:10881 hand, foot and mouth disease ISO RGD:735801 D RGD:36947391|PMID:30817906 20200803 RGD protein:increased expression:serum 628837 Actb actin, beta gene DOID:12270 coloboma ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 628837 Actb actin, beta gene DOID:1588 thrombocytopenia ISO RGD:735801 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10411937|PMID:25741868 628837 Actb actin, beta gene DOID:1934 dysostosis ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 628837 Actb actin, beta gene DOID:305 carcinoma ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 628837 Actb actin, beta gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:decreased expression:forebrain, postsynaptic density 628837 Actb actin, beta gene DOID:543 dystonia ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 628837 Actb actin, beta gene DOID:630 genetic disease ISO RGD:735801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12325076|PMID:16685646|PMID:17576681|PMID:22366544|PMID:22366783|PMID:25255767|PMID:25741868|PMID:25979418|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9536098|PMID:9714430 628837 Actb actin, beta gene DOID:684 hepatocellular carcinoma ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:21472284 628837 Actb actin, beta gene DOID:8398 osteoarthritis ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 628837 Actb actin, beta gene DOID:9000117 Esophageal Neoplasms ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 628837 Actb actin, beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 628837 Actb actin, beta gene DOID:9002669 Hypoxia ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 628837 Actb actin, beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735801 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628837 Actb actin, beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 628837 Actb actin, beta gene DOID:9005172 Lung Neoplasms ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 628837 Actb actin, beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 628837 Actb actin, beta gene DOID:9006221 smooth muscle hamartoma ISO RGD:735801 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Congenital smooth muscle hamartoma PMID:32170967 628837 Actb actin, beta gene DOID:9006534 Nervous System Malformations ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 628837 Actb actin, beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:7240710 20130221 OMIM 628837 Actb actin, beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile-onset dystonia PMID:12325076|PMID:16685646|PMID:19252504|PMID:22366783|PMID:24033266|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:9714430 628837 Actb actin, beta gene DOID:9007102 Myocardial Ischemia ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 628837 Actb actin, beta gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:9587759|PMID:22563491 20141016 RGD mRNA:increased expression:liver 628837 Actb actin, beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735801 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 628837 Actb actin, beta gene DOID:9007661 Dwarfism ISO RGD:735801 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 628837 Actb actin, beta gene DOID:9007956 Febrile Seizures IEP D RGD:9587751|PMID:23237195 20141016 RGD 628837 Actb actin, beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350936 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:31883641 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:14701 propionic acidemia ISO RGD:1350936 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:31883641 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:3650 lactic acidosis ISO RGD:1350936 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:31883641 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:630 genetic disease ISO RGD:1350936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:700 mitochondrial metabolism disease ISS RGD:1557988 D RGD:13592920 20180518 MouseDO 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:7240710 20200226 OMIM 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 PMID:25741868|PMID:31883641 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9007090 Experimental Seizures IEP D RGD:2303356|PMID:15730530 20181226 RGD protein:increased expression:hippocampus 628838 Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1350936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 628840 Mtmr9 myotubularin related protein 9 gene DOID:630 genetic disease ISO RGD:735915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628840 Mtmr9 myotubularin related protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735915 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:1064 cystinosis ISO RGD:733197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27734949|PMID:9537412|PMID:9792862 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:11054 urinary bladder cancer ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19502594 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:11963 esophagitis ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16091555 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21349818 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:1936 atherosclerosis ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21908651 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:2548 reflex epilepsy treatment IMP D RGD:13450923|PMID:29105300 20200617 RGD 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20144892 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:3613 Canavan disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:4989 pancreatitis ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17698068 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:5844 myocardial infarction IMP D RGD:13792689|PMID:27671317 20180921 RGD 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:6050 esophageal disease ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:630 genetic disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:6364 migraine ISO RGD:733197 D RGD:7175557|PMID:22162417 20121212 RGD DNA:snp:intron:g.IVS2+2841C>T rs222741 (human) 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9000133 Sneezing ISO RGD:733197 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9000641 Pain ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16996476|PMID:17575321|PMID:20422007|PMID:23006841 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9002211 Hyperalgesia IEP D RGD:8657122|PMID:21958434 20140603 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9002211 Hyperalgesia ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151517|PMID:18234885|PMID:18774343|PMID:23006841 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:733197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9003181 Heartburn ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:733197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:27734949|PMID:9537412|PMID:9792862 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9005372 Inflammation IEP D RGD:8657122|PMID:21958434 20140603 RGD protein:increased expression:hindpaw: 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9005372 Inflammation ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17575321|PMID:20712533 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9007073 Cough ISO RGD:733197 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733197 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:733197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 628841 Trpv1 transient receptor potential cation channel, subfamily V, member 1 gene DOID:9970 obesity ISO RGD:733197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17347480 628842 Tac4 tachykinin precursor 4 gene DOID:630 genetic disease ISO RGD:735700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628843 Mfn2 mitofusin 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732569 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 628843 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:15549395|PMID:16437557|PMID:16762064|PMID:16835246|PMID:20301684|PMID:20350294|PMID:20587496|PMID:21508331|PMID:21707411|PMID:22206013|PMID:22492563|PMID:22762946|PMID:24604904|PMID:24819634|PMID:25448007|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26467025|PMID:27549087|PMID:28063088|PMID:28492532|PMID:29898954|PMID:31673878|PMID:32376792 628843 Mfn2 mitofusin 2 gene DOID:0050753 cerebellar ataxia ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:15064763|PMID:16043786|PMID:16835246|PMID:17296794|PMID:17959936|PMID:18316077|PMID:19812251|PMID:20008656|PMID:21508331|PMID:22492563|PMID:24126688|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:27100445|PMID:28492532|PMID:28660751|PMID:29898954 628843 Mfn2 mitofusin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732569 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 628843 Mfn2 mitofusin 2 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:732569 D RGD:11554173 20190917 CTD CTD Direct Evidence: marker/mechanism 628843 Mfn2 mitofusin 2 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:732569 D RGD:1601409|PMID:16437557 20070419 RGD DNA:missense mutations, nonsense mutation:cds:multiple 628843 Mfn2 mitofusin 2 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 628843 Mfn2 mitofusin 2 gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:13204743|PMID:26401075 20170718 RGD 628843 Mfn2 mitofusin 2 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 628843 Mfn2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:7240710 20190703 OMIM 628843 Mfn2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 628843 Mfn2 mitofusin 2 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16199547|PMID:16714318|PMID:18425620|PMID:21715711|PMID:22206013|PMID:26955893|PMID:28492532 628843 Mfn2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:7240710 20190315 OMIM 628843 Mfn2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency PMID:15064763|PMID:16043786|PMID:16199547|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20482598|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21840889|PMID:22492563|PMID:22494076|PMID:23147504|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24803844|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26801520|PMID:26955893|PMID:28215760|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29625556|PMID:29790872|PMID:29858556|PMID:30158064|PMID:30649465|PMID:31673878|PMID:31701603|PMID:32214227|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34193129|PMID:8406488 628843 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33415332|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:10652 Alzheimer's disease IEP D RGD:12910737|PMID:28302704 20170622 RGD protein:increased expression:hippocampus (rat) 628843 Mfn2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:732569 D RGD:7800727|PMID:19605646 20170131 RGD protein:decreased expression:hippocampus (human) 628843 Mfn2 mitofusin 2 gene DOID:10763 hypertension IEP D RGD:13204764|PMID:25464244 20170718 RGD protein:decreased expression:aorta (rat) 628843 Mfn2 mitofusin 2 gene DOID:10763 hypertension treatment IEP D RGD:12910764|PMID:27847271 20170623 RGD 628843 Mfn2 mitofusin 2 gene DOID:10907 microcephaly ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 628843 Mfn2 mitofusin 2 gene DOID:11716 prediabetes syndrome IEP D RGD:12910830|PMID:27521417 20170626 RGD protein:increased expression:heart left ventricle (rat) 628843 Mfn2 mitofusin 2 gene DOID:11720 distal myopathy ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 628843 Mfn2 mitofusin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732570 D RGD:11251967|PMID:22052916 20170622 RGD with Mfn1 knockout 628843 Mfn2 mitofusin 2 gene DOID:13001 carotid stenosis treatment IMP D RGD:1304351|PMID:15322553 20170719 RGD 628843 Mfn2 mitofusin 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732569 D RGD:329812002|PMID:23972212 20230519 RGD protein:decreased expression:vastus lateralis 628843 Mfn2 mitofusin 2 gene DOID:1596 depressive disorder treatment IEP D RGD:13204844|PMID:22244747 20170721 RGD 628843 Mfn2 mitofusin 2 gene DOID:1969 cerebral palsy ISO RGD:732569 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 628843 Mfn2 mitofusin 2 gene DOID:224 transient cerebral ischemia IEP D RGD:13204807|PMID:25147362 20170719 RGD protein:decreased expression:brain (rat) 628843 Mfn2 mitofusin 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:732569 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:26467025|PMID:28492532 628843 Mfn2 mitofusin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732569 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 628843 Mfn2 mitofusin 2 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:13204824|PMID:24912636 20170720 RGD 628843 Mfn2 mitofusin 2 gene DOID:4752 multiple system atrophy ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type PMID:25741868 628843 Mfn2 mitofusin 2 gene DOID:574 peripheral nervous system disease ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:34193129 628843 Mfn2 mitofusin 2 gene DOID:5844 myocardial infarction treatment IEP D RGD:12738232|PMID:20886221 20170131 RGD 628843 Mfn2 mitofusin 2 gene DOID:630 genetic disease ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15064763|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29453956|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9536098 628843 Mfn2 mitofusin 2 gene DOID:7319 axonal neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 628843 Mfn2 mitofusin 2 gene DOID:870 neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:34193129 628843 Mfn2 mitofusin 2 gene DOID:8947 diabetic retinopathy IEP D RGD:12910715|PMID:28487236 20170621 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) 628843 Mfn2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:12437066|PMID:26079325 20170718 RGD protein:increased expression:spinal cord (rat) 628843 Mfn2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:12910735|PMID:28404953 20170622 RGD 628843 Mfn2 mitofusin 2 gene DOID:9000304 Manganese Poisoning IEP D RGD:12910738|PMID:28232070 20170622 RGD protein:decreased expression:striatum (rat) 628843 Mfn2 mitofusin 2 gene DOID:9001276 Failure to Thrive ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 628843 Mfn2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:13204798|PMID:25369251 20170719 RGD mRNA, protein:decreased expression:liver (rat) 628843 Mfn2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:12910839|PMID:26882442 20170626 RGD 628843 Mfn2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:13204829|PMID:24898700 20170721 RGD mRNA, protein:decreased expression:liver (rat) 628843 Mfn2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:12910833|PMID:27363631 20170626 RGD 628843 Mfn2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732569 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:27997345 628843 Mfn2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:11053290|PMID:26123583 20170718 RGD associated with Diabetes Mellitus, Experimental 628843 Mfn2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies treatment IMP D RGD:12910740|PMID:27997345 20170623 RGD associated with Diabetes Mellitus, Experimental 628843 Mfn2 mitofusin 2 gene DOID:9002211 Hyperalgesia IEP D RGD:12910704|PMID:28587902 20170621 RGD mRNA:decreased expression:spinal cord (rat) 628843 Mfn2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:732569 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28587902 628843 Mfn2 mitofusin 2 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:11557238|PMID:26692091 20170627 RGD protein:decreased expression:heart (rat) 628843 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly IEP D RGD:12910835|PMID:27085127 20170626 RGD associated with Hypertension:protein:decreased expression:heart (rat) 628843 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17499311 628843 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732570 D RGD:12910768|PMID:27565029 20170623 RGD mRNA, protein:decreased expression:heart (mouse) 628843 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment IEP D RGD:12910764|PMID:27847271 20170623 RGD 628843 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:732570 D RGD:12910714|PMID:28503736 20170621 RGD 628843 Mfn2 mitofusin 2 gene DOID:9003984 Hyperpigmentation ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 628843 Mfn2 mitofusin 2 gene DOID:9004484 Sepsis IEP D RGD:13204837|PMID:24720571 20170721 RGD mRNA:decreased expression:liver (rat) 628843 Mfn2 mitofusin 2 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:732569 D RGD:11554173 20190709 CTD CTD Direct Evidence: marker/mechanism 628843 Mfn2 mitofusin 2 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:732569 D RGD:12738379|PMID:22206013 20070419 RGD DNA: missense mutations, snp:cds, intron:multiple (human) 628843 Mfn2 mitofusin 2 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15136675|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:26968460|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358 628843 Mfn2 mitofusin 2 gene DOID:9004610 Acute Lung Injury IEP D RGD:12437080|PMID:25560372 20170718 RGD mRNA, protein:increased expression:lung (rat) 628843 Mfn2 mitofusin 2 gene DOID:9004739 Cicatrix ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Scarring PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 628843 Mfn2 mitofusin 2 gene DOID:9005526 Pulmonary Edema of Mountaineers IEP D RGD:12738217|PMID:23517027 20170130 RGD mRNA:decreased expression:lung (rat) 628843 Mfn2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:12910739|PMID:27998959 20170622 RGD protein:increased expression:heart, mitochondrion (rat) 628843 Mfn2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:12910731|PMID:28483572 20170622 RGD 628843 Mfn2 mitofusin 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:12910856|PMID:26485208 20170627 RGD mRNA, protein:decreased expression:lung (rat) 628843 Mfn2 mitofusin 2 gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:12910831|PMID:27491814 20170626 RGD 628843 Mfn2 mitofusin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:732569 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 628843 Mfn2 mitofusin 2 gene DOID:9007661 Dwarfism ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short stature PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 628843 Mfn2 mitofusin 2 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:13204838|PMID:24715199 20170721 RGD 628843 Mfn2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:7240710 20190911 OMIM 628843 Mfn2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY PMID:10732809|PMID:15064763|PMID:16043786|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:18458227|PMID:18602827|PMID:19889647|PMID:20008656|PMID:20350294|PMID:20482598|PMID:21149811|PMID:21576112|PMID:21772703|PMID:22492563|PMID:22494076|PMID:23456260|PMID:24033266|PMID:24126688|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26316991|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29358271|PMID:30158064|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:33415332|PMID:33502018 628843 Mfn2 mitofusin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13204835|PMID:24721408 20170721 RGD 628843 Mfn2 mitofusin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732569 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16714318|PMID:21715711|PMID:26955893|PMID:28492532 628843 Mfn2 mitofusin 2 gene DOID:9008563 Charcot-Marie-Tooth Disease, Type 2A ISO RGD:732569 D RGD:1601408|PMID:15064763 20070419 RGD DNA:missense mutations:cds:multiple (human) 628843 Mfn2 mitofusin 2 gene DOID:9008563 Charcot-Marie-Tooth Disease, Type 2A ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HMSN IIA PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 628843 Mfn2 mitofusin 2 gene DOID:9008824 Sarcopenia IEP D RGD:12738219|PMID:23220115 20170130 RGD protein:increased expression:extensor digitorum longus (rat) 628843 Mfn2 mitofusin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732569 D RGD:13204820|PMID:16123358 20170720 RGD mRNA:decreased expression:skeletal muscle tissue (human) 628843 Mfn2 mitofusin 2 gene DOID:9452 fatty liver disease IEP D RGD:12453042|PMID:24663492 20170830 RGD protein:decreased expression:liver (rat) 628843 Mfn2 mitofusin 2 gene DOID:9970 obesity IEP D RGD:12880438|PMID:25336449 20180207 RGD mRNA:decreased expression:liver (rat) 628843 Mfn2 mitofusin 2 gene DOID:9970 obesity ISO RGD:732569 D RGD:1601412|PMID:12598526 20170720 RGD mRNA:decreased expression:skeletal muscle tissue (human) 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349110 D RGD:11526681|PMID:26464646 20190111 RGD 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:10283 prostate cancer ISO RGD:1349110 D RGD:13838848|PMID:19176382 20190121 RGD protein:increased expression:prostate 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1349110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:6846 familial melanoma ISO RGD:1349110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9007090 Experimental Seizures ISO RGD:1619007 D RGD:13838850|PMID:21925531 20190122 RGD 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9008023 Memory Disorders ISO RGD:1619007 D RGD:13838852|PMID:21632930 20190122 RGD 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1619007 D RGD:13838849|PMID:20068140 20190122 RGD 628844 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9970 obesity ISO RGD:1619007 D RGD:13838849|PMID:20068140 20190122 RGD 628845 Timm13 translocase of inner mitochondrial membrane 13 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 628845 Timm13 translocase of inner mitochondrial membrane 13 gene DOID:630 genetic disease ISO RGD:1352849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628845 Timm13 translocase of inner mitochondrial membrane 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352849 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628846 Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2303380|PMID:19129252 20090210 RGD mRNA:increased expression:kidney 628846 Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 gene DOID:10763 hypertension IEP D RGD:2303381|PMID:18952718 20090210 RGD 628846 Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 gene DOID:10763 hypertension IEP D RGD:2303383|PMID:16339392 20090210 RGD mRNA:decreased expression:kidney cortex 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm IEP D RGD:2304231|PMID:18081878 20090312 RGD associated with Liver Neoplasms, Experimental;protein:decreased expression:liver 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:10652 Alzheimer's disease ISO RGD:736023 D RGD:10412676|PMID:11208906 20151120 RGD protein:increased expression:brain,CA1 field of hippocampus: 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:12098 trigeminal neuralgia ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:736023 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:2237 hepatitis ISO RGD:736024 D RGD:153305943|PMID:25173965 20220810 RGD 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:2349 arteriosclerosis ISO RGD:736024 D RGD:1582314|PMID:15567863 20061104 RGD 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:326 ischemia ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19667931 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736023 D RGD:14348976|PMID:22517435 20190205 RGD 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:630 genetic disease ISO RGD:736023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21779479 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:13217416|PMID:25205654 20170912 RGD associated with Colorectal Neoplasms 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9002211 Hyperalgesia ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736023 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19667931|PMID:20302854 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9006205 Animal Disease Models ISO RGD:736023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:736023 D RGD:13217416|PMID:25205654 20170912 RGD 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13506785|PMID:21911753 20180214 RGD protein:hyperphosphorylation:pancreatic islet: 628847 Mapk9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736023 D RGD:13506785|PMID:21911753 20180214 RGD protein:hyperphosphorylation:pancreatic islet: 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:7240710 20190315 OMIM 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 PMID:25741868|PMID:28492532|PMID:28669405 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:10283 prostate cancer ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1059 intellectual disability ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:11830 myopia ISO RGD:1351630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1826 epilepsy ISO RGD:1351630 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3659 sialuria ISO RGD:1351630 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351630 D RGD:11554173 20190115 CTD CTD Direct Evidence: marker/mechanism PMID:28189443 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:630 genetic disease ISO RGD:1351630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18004376|PMID:25741868|PMID:25741879|PMID:27602407|PMID:28492532|PMID:28669405 628848 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351630 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741879 628849 Ostf1 osteoclast stimulating factor 1 gene DOID:630 genetic disease ISO RGD:733236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628850 Wnt5b Wnt family member 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 628850 Wnt5b Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 628850 Wnt5b Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:2298808|PMID:15972578 20080725 RGD Uterine leiomyoma 628850 Wnt5b Wnt family member 5B gene DOID:630 genetic disease ISO RGD:1346792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628850 Wnt5b Wnt family member 5B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1346792 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 628850 Wnt5b Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551592 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 628850 Wnt5b Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1551592 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 628850 Wnt5b Wnt family member 5B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346792 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:7240710 20190315 OMIM 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:16199547|PMID:17576681|PMID:24856141|PMID:25193337|PMID:25741868|PMID:26436962|PMID:27342937|PMID:28492532|PMID:32055997|PMID:32190976|PMID:4856141|PMID:9536098 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607052 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1607052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1607052 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 628851 Tor1aip1 torsin 1A interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607052 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:1347795 D RGD:1626312|PMID:16289869 20070731 RGD 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0050777 Joubert syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:28492532|PMID:30982612|PMID:31209758 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0081097 Rafiq syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0090051 dystonia 23 ISO RGD:1347795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 23 PMID:21370267|PMID:25296916|PMID:25741868|PMID:26157024|PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:1826 epilepsy ISO RGD:1347795 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:2377 multiple sclerosis ISO RGD:1347795 D RGD:1580151|PMID:11353727 19990101 RGD 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:574 peripheral nervous system disease ISO RGD:1347795 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22891239 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:630 genetic disease ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:7240710 20190918 OMIM 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements PMID:17576681|PMID:25741868|PMID:28492532|PMID:30982612|PMID:9536098 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735793 D RGD:13506726|PMID:27273361 20180207 RGD 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9002211 Hyperalgesia IDA D RGD:1626313|PMID:17567797 20070731 RGD 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:1580151|PMID:11353727 19990101 RGD 628852 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 628853 Serpinb10 serpin family B member 10 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 628853 Serpinb10 serpin family B member 10 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 628853 Serpinb10 serpin family B member 10 gene DOID:0080600 COVID-19 ISO RGD:733342 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628853 Serpinb10 serpin family B member 10 gene DOID:630 genetic disease ISO RGD:733342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628853 Serpinb10 serpin family B member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733342 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 628854 Rnf39 ring finger protein 39 gene DOID:11372 megacolon ISO RGD:1604283 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 628854 Rnf39 ring finger protein 39 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1604283 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 628854 Rnf39 ring finger protein 39 gene DOID:630 genetic disease ISO RGD:1604283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628854 Rnf39 ring finger protein 39 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628855 Myl12b myosin light chain 12B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601728 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 628855 Myl12b myosin light chain 12B gene DOID:0110880 holoprosencephaly 4 ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 628855 Myl12b myosin light chain 12B gene DOID:1059 intellectual disability ISO RGD:1601728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628855 Myl12b myosin light chain 12B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 628855 Myl12b myosin light chain 12B gene DOID:630 genetic disease ISO RGD:1601728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628855 Myl12b myosin light chain 12B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601728 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628855 Myl12b myosin light chain 12B gene DOID:9005523 Majeed Syndrome ISO RGD:1601728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 628856 Acot7 acyl-CoA thioesterase 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 628856 Acot7 acyl-CoA thioesterase 7 gene DOID:630 genetic disease ISO RGD:733878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628856 Acot7 acyl-CoA thioesterase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733878 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628857 Pank4 pantothenate kinase 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628857 Pank4 pantothenate kinase 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731329 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 628857 Pank4 pantothenate kinase 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731329 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 628857 Pank4 pantothenate kinase 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731329 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 628857 Pank4 pantothenate kinase 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628857 Pank4 pantothenate kinase 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628857 Pank4 pantothenate kinase 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628857 Pank4 pantothenate kinase 4 gene DOID:630 genetic disease ISO RGD:731329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628857 Pank4 pantothenate kinase 4 gene DOID:83 cataract ISS RGD:1550985 D RGD:13592920 20210318 MouseDO OMIM:601371 628857 Pank4 pantothenate kinase 4 gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:7240710 20211110 OMIM 628857 Pank4 pantothenate kinase 4 gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:30585370 628857 Pank4 pantothenate kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731329 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628857 Pank4 pantothenate kinase 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731329 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 628857 Pank4 pantothenate kinase 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 628858 Olr59 olfactory receptor 59 gene DOID:0080773 delta beta-thalassemia ISO RGD:736827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 628858 Olr59 olfactory receptor 59 gene DOID:630 genetic disease ISO RGD:736827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628858 Olr59 olfactory receptor 59 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628858 Olr59 olfactory receptor 59 gene DOID:9007383 Chemical and Drug Induced Liver Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 628859 Tank TRAF family member-associated NFKB activator gene DOID:0080600 COVID-19 ISO RGD:734196 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 628859 Tank TRAF family member-associated NFKB activator gene DOID:12849 autistic disorder ISO RGD:734196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 628859 Tank TRAF family member-associated NFKB activator gene DOID:630 genetic disease ISO RGD:734196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628859 Tank TRAF family member-associated NFKB activator gene DOID:9008939 Breast Neoplasms ISO RGD:734196 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 628860 Fev FEV transcription factor, ETS family member gene DOID:0060041 autism spectrum disorder ISO RGD:1351543 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 628860 Fev FEV transcription factor, ETS family member gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1351543 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 628860 Fev FEV transcription factor, ETS family member gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 628860 Fev FEV transcription factor, ETS family member gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 628860 Fev FEV transcription factor, ETS family member gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 628860 Fev FEV transcription factor, ETS family member gene DOID:630 genetic disease ISO RGD:1351543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628860 Fev FEV transcription factor, ETS family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351543 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628860 Fev FEV transcription factor, ETS family member gene DOID:9007102 Myocardial Ischemia ISO RGD:1351543 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:732363 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:12849 autistic disorder ISO RGD:732363 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:732363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732363 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:9263 homocystinuria ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 628861 Lrrc3 leucine rich repeat containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 628862 Rbm45 RNA binding motif protein 45 gene DOID:630 genetic disease ISO RGD:730942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628863 Tor1a torsin family 1, member A gene DOID:0050836 focal dystonia ISS RGD:1615931 D RGD:13592920 20190131 MouseDO 628863 Tor1a torsin family 1, member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:7240710 20130619 OMIM 628863 Tor1a torsin family 1, member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28492532|PMID:30244176|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096 628863 Tor1a torsin family 1, member A gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1345813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:25741868|PMID:30244176|PMID:34008892 628863 Tor1a torsin family 1, member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 628863 Tor1a torsin family 1, member A gene DOID:0080047 pseudoachondroplasia ISO RGD:1345813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:25741868 628863 Tor1a torsin family 1, member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:7240710 20200812 OMIM 628863 Tor1a torsin family 1, member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 PMID:11523564|PMID:17503336|PMID:18519876|PMID:18827015|PMID:25741868|PMID:28492532|PMID:28516161|PMID:29053766|PMID:30244176|PMID:34008892|PMID:9288096 628863 Tor1a torsin family 1, member A gene DOID:543 dystonia ISO RGD:1345813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20227500|PMID:21078339|PMID:23222958 628863 Tor1a torsin family 1, member A gene DOID:543 dystonia ISO RGD:1345813 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism PMID:23222958 628863 Tor1a torsin family 1, member A gene DOID:543 dystonia ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:17576681|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28166811|PMID:28492532|PMID:30244176|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096|PMID:9536098 628863 Tor1a torsin family 1, member A gene DOID:630 genetic disease ISO RGD:1345813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18827015|PMID:28166811|PMID:28492532|PMID:28516161|PMID:9536098 628863 Tor1a torsin family 1, member A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345813 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 628863 Tor1a torsin family 1, member A gene DOID:9006836 Contracture ISO RGD:1345813 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures 628863 Tor1a torsin family 1, member A gene DOID:9008057 Dystonia Musculorum Deformans TAS D RGD:634735|PMID:12671990 19990101 RGD 628864 Smim3 small integral membrane protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628864 Smim3 small integral membrane protein 3 gene DOID:630 genetic disease ISO RGD:1605605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628864 Smim3 small integral membrane protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628865 Soat2 sterol O-acyltransferase 2 gene DOID:10211 cholelithiasis susceptibility ISO RGD:730964 D RGD:1556516|PMID:11100118 20070531 RGD 628865 Soat2 sterol O-acyltransferase 2 gene DOID:10608 celiac disease ISO RGD:730963 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 628865 Soat2 sterol O-acyltransferase 2 gene DOID:1184 nephrotic syndrome IEP D RGD:730139|PMID:11967026 19990101 RGD mRNA, protein:increased expression:liver 628865 Soat2 sterol O-acyltransferase 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730964 D RGD:1625282|PMID:17431188 20070531 RGD 628865 Soat2 sterol O-acyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730963 D RGD:1601112|PMID:16195894 20070531 RGD DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human) 628865 Soat2 sterol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:730963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628865 Soat2 sterol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730963 D RGD:1581190|PMID:16274362 19990101 RGD 628865 Soat2 sterol O-acyltransferase 2 gene DOID:783 end stage renal disease IDA D RGD:625687|PMID:12217884 19990101 RGD 628865 Soat2 sterol O-acyltransferase 2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:730964 D RGD:1556516|PMID:11100118 20070531 RGD 628865 Soat2 sterol O-acyltransferase 2 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:1581191|PMID:15242859 19990101 RGD 628865 Soat2 sterol O-acyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:730963 D RGD:1581921|PMID:14557872 20070531 RGD DNA:SNPs 628866 Npas4 neuronal PAS domain protein 4 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 628866 Npas4 neuronal PAS domain protein 4 gene DOID:1059 intellectual disability ISO RGD:734007 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628866 Npas4 neuronal PAS domain protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628866 Npas4 neuronal PAS domain protein 4 gene DOID:2746 glycogen storage disease V ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 628866 Npas4 neuronal PAS domain protein 4 gene DOID:630 genetic disease ISO RGD:734007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628866 Npas4 neuronal PAS domain protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 628866 Npas4 neuronal PAS domain protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 628867 Pla2g6 phospholipase A2 group VI gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 628867 Pla2g6 phospholipase A2 group VI gene DOID:0050952 spastic ataxia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 628867 Pla2g6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:7240710 20151216 OMIM 628867 Pla2g6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 PMID:16783378|PMID:18570303|PMID:18799783|PMID:18981035|PMID:20186954|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:21368765|PMID:21700586|PMID:21812034|PMID:22213678|PMID:23182313|PMID:24088041|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26633545|PMID:26668131|PMID:26755131|PMID:27268037|PMID:27942883|PMID:28492532|PMID:29395073|PMID:29859652|PMID:29913018|PMID:30065071|PMID:30232368|PMID:30302010|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33279242|PMID:34622992 628867 Pla2g6 phospholipase A2 group VI gene DOID:0070338 cerebellar hypoplasia ISO RGD:732454 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16783378|PMID:32581362 628867 Pla2g6 phospholipase A2 group VI gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732454 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 628867 Pla2g6 phospholipase A2 group VI gene DOID:0090056 dystonia 12 ISO RGD:732454 D RGD:6482737|PMID:19087156 20120430 RGD DNA:missense mutation:p.R632W (human) 628867 Pla2g6 phospholipase A2 group VI gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23685560|PMID:24033266|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25326637|PMID:25558065|PMID:25741868|PMID:26196026|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28714225|PMID:28716262|PMID:29108286|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29915382|PMID:30120687|PMID:30340910|PMID:30619057|PMID:31496990|PMID:31516627|PMID:32183746|PMID:32357911|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33050356|PMID:33550528|PMID:34168672|PMID:35122944|PMID:35247231 628867 Pla2g6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:12910703|PMID:22934738 20170621 RGD DNA:deletions, missense mutations, nonsense mutation: exon:multiple 628867 Pla2g6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:7240710 20130221 OMIM 628867 Pla2g6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration PMID:16199547|PMID:16783378|PMID:17033970|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20186954|PMID:20226704|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:20947703|PMID:21368765|PMID:21520282|PMID:21700586|PMID:21812034|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23182313|PMID:23685560|PMID:24033266|PMID:24088041|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25174650|PMID:25326635|PMID:25326637|PMID:25348461|PMID:25601130|PMID:25634434|PMID:25640679|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26633545|PMID:26668131|PMID:2668131|PMID:26755131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27294386|PMID:27378808|PMID:27395053|PMID:27516098|PMID:27709683|PMID:27882168|PMID:27942883|PMID:28150298|PMID:28295203|PMID:28492532|PMID:28549837|PMID:28714225|PMID:28716262|PMID:28821231|PMID:29108286|PMID:29124790|PMID:29159939|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29913018|PMID:29915382|PMID:30042723|PMID:30065071|PMID:30120687|PMID:30169597|PMID:30232368|PMID:30302010|PMID:30340910|PMID:30537300|PMID:30619057|PMID:30772976|PMID:31493945|PMID:31496990|PMID:31506141|PMID:31516627|PMID:31548400|PMID:31689548|PMID:32183746|PMID:32357911|PMID:32404165|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33098801|PMID:33279242|PMID:33361639|PMID:33547378|PMID:33550528|PMID:34168672|PMID:34272103|PMID:34622992|PMID:35122944|PMID:35247231|PMID:6783378|PMID:9536098 628867 Pla2g6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:7240710 20150821 OMIM 628867 Pla2g6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19138334|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:22213678|PMID:22934738|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25741868|PMID:26196026|PMID:26668131|PMID:2668131|PMID:26755131|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28716262|PMID:29472584|PMID:29915382|PMID:30340910|PMID:30619057|PMID:30772976|PMID:31516627|PMID:31548400|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:34168672|PMID:34622992|PMID:35122944 628867 Pla2g6 phospholipase A2 group VI gene DOID:10247 pleurisy IEP D RGD:6482741|PMID:15003994 20120430 RGD 628867 Pla2g6 phospholipase A2 group VI gene DOID:11723 Duchenne muscular dystrophy ISO RGD:732454 D RGD:12910703|PMID:22934738 20170621 RGD 628867 Pla2g6 phospholipase A2 group VI gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 628867 Pla2g6 phospholipase A2 group VI gene DOID:12849 autistic disorder ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autism PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 628867 Pla2g6 phospholipase A2 group VI gene DOID:1289 neurodegenerative disease ISO RGD:732455 D RGD:12910702|PMID:24919816 20170621 RGD 628867 Pla2g6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease no_association ISO RGD:732454 D RGD:6482734|PMID:21368765 20120430 RGD DNA:missense mutation:cds:p.P806R (c.2417C>G) (human) 628867 Pla2g6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease onset ISO RGD:732454 D RGD:6482733|PMID:20938027 20120430 RGD DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human) 628867 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:6482736|PMID:19138334 20120430 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple 628867 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:6482740|PMID:17033970 20120430 RGD DNA:deletion:cds:p.V691del (human) 628867 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:6482732|PMID:22442204 20120430 RGD DNA:insertion:intron (mouse) 628867 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:6482735|PMID:19893029 20120430 RGD DNA:point mutation:cds 628867 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:6482739|PMID:18305254 20120430 RGD 628867 Pla2g6 phospholipase A2 group VI gene DOID:630 genetic disease ISO RGD:732454 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16783378|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20619503|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:24745848|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:27127721|PMID:27378808|PMID:28295203|PMID:28492532|PMID:28716262|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29554876|PMID:29859652|PMID:29915382|PMID:30042723|PMID:30120687|PMID:30169597|PMID:30340910|PMID:30619057|PMID:31493945|PMID:33547378|PMID:34168672|PMID:34272103|PMID:35247231|PMID:9536098 628867 Pla2g6 phospholipase A2 group VI gene DOID:9000039 Spinal Cord Injuries ISO RGD:732455 D RGD:6482718|PMID:21868473 20120430 RGD protein:increased expression:spinal cord 628867 Pla2g6 phospholipase A2 group VI gene DOID:9002498 Wallerian Degeneration ISO RGD:732455 D RGD:6482738|PMID:18718965 20120430 RGD 628867 Pla2g6 phospholipase A2 group VI gene DOID:9002969 Nevus ISO RGD:732454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 628867 Pla2g6 phospholipase A2 group VI gene DOID:9004320 Karak Syndrome ISO RGD:732454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Karak syndrome PMID:16783378|PMID:19087156|PMID:20619503|PMID:20886109|PMID:25741868|PMID:27127721|PMID:27196560|PMID:29108286|PMID:30619057|PMID:31496990|PMID:32183746|PMID:33550528 628867 Pla2g6 phospholipase A2 group VI gene DOID:9006534 Nervous System Malformations ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 628867 Pla2g6 phospholipase A2 group VI gene DOID:9006646 Metabolic Syndrome IEP D RGD:6482748|PMID:21172452 20120501 RGD mRNA:decreased expression:liver 628868 Itgb3 integrin subunit beta 3 gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:1345363 D RGD:8693343|PMID:20162297 20140711 RGD DNA:polymorphism: : 628868 Itgb3 integrin subunit beta 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345363 D RGD:10755468|PMID:16121636 20160128 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21254450 628868 Itgb3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:10755462|PMID:19691478 20160128 RGD DNA:missense mutations, deletions, insertion:exon:multiple 628868 Itgb3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:10755466|PMID:22250950 20160128 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:10755470|PMID:23912132 20160128 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:1371279|PMID:19570064|PMID:19821948|PMID:20804530|PMID:21287507|PMID:22490273|PMID:22862885|PMID:24617330|PMID:25741868|PMID:28492532|PMID:9351872 628868 Itgb3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISS RGD:737483 D RGD:13592920 20210513 MouseDO OMIM:187800 628868 Itgb3 integrin subunit beta 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1345363 D RGD:5112894|PMID:11299820 20110304 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1345363 D RGD:6907404|PMID:18419255 20121102 RGD protein:increased expression:platelet 628868 Itgb3 integrin subunit beta 3 gene DOID:11847 coronary thrombosis ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8598867 628868 Itgb3 integrin subunit beta 3 gene DOID:12361 Graves' disease ISO RGD:1345363 D RGD:8693341|PMID:23109646 20140711 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:16724005|PMID:17203304 628868 Itgb3 integrin subunit beta 3 gene DOID:13001 carotid stenosis ISO RGD:737483 D RGD:1582450|PMID:15007005 20061108 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737483 D RGD:6907385|PMID:21804539 20121101 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:1588 thrombocytopenia ISO RGD:1345363 D RGD:10755449|PMID:19336737 20160128 RGD DNA:splice-site mutation:intron:c.2134+1G>C (human) 628868 Itgb3 integrin subunit beta 3 gene DOID:1588 thrombocytopenia ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15225244 628868 Itgb3 integrin subunit beta 3 gene DOID:1588 thrombocytopenia ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362 628868 Itgb3 integrin subunit beta 3 gene DOID:2213 hemorrhagic disease ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 628868 Itgb3 integrin subunit beta 3 gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1345363 D RGD:10755474|PMID:1967954 20160129 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1371279|PMID:1602006 628868 Itgb3 integrin subunit beta 3 gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1345363 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A PMID:10233432|PMID:10583927|PMID:10727448|PMID:10891446|PMID:11507099|PMID:11723016|PMID:11776310|PMID:11806996|PMID:12083483|PMID:12152649|PMID:12353082|PMID:1371279|PMID:1430225|PMID:1438206|PMID:14516468|PMID:14629479|PMID:14690453|PMID:15583747|PMID:15634267|PMID:1602006|PMID:16199547|PMID:16463284|PMID:16722529|PMID:16879215|PMID:17264806|PMID:18832906|PMID:19570064|PMID:19691478|PMID:19821948|PMID:20020534|PMID:2014236|PMID:20438394|PMID:20514620|PMID:20804530|PMID:21113249|PMID:21287507|PMID:21658138|PMID:21917754|PMID:22190468|PMID:22250950|PMID:22490273|PMID:22862885|PMID:2392682|PMID:24236036|PMID:2428841|PMID:24617330|PMID:24685245|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:26829726|PMID:27469266|PMID:28492532|PMID:28748566|PMID:28983057|PMID:30138987|PMID:30792900|PMID:30828542|PMID:31064749|PMID:31088191|PMID:31565851|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:34355501|PMID:7570918|PMID:7694683|PMID:8080992|PMID:8132570|PMID:8457479|PMID:8598867|PMID:8667943|PMID:8781422|PMID:8838346|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9450787|PMID:9700201|PMID:9787162|PMID:9845537 628868 Itgb3 integrin subunit beta 3 gene DOID:224 transient cerebral ischemia IEP D RGD:6907424|PMID:18638458 20121102 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:2349 arteriosclerosis ISO RGD:737483 D RGD:5100478|PMID:12746502 20110304 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:2841 asthma ISO RGD:1345363 D RGD:5037230|PMID:17556058 20110303 RGD DNA:SNPs: : 628868 Itgb3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis IEP D RGD:6907420|PMID:8083378 20121102 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:1345363 D RGD:6907411|PMID:11051455 20121102 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:3410 carotid artery thrombosis ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 628868 Itgb3 integrin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345363 D RGD:5037228|PMID:19386436 20110303 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:552 pneumonia disease_progression ISO RGD:737483 D RGD:5100478|PMID:12746502 20110304 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8598867 628868 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction ISO RGD:1345363 D RGD:5128476|PMID:20846430 20110304 RGD associated with arteriosclerosis; DNA:polymorphism:exon 628868 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10583927|PMID:10727448|PMID:11723016|PMID:17264806|PMID:2014236|PMID:25728920|PMID:25741868|PMID:28492532|PMID:7570918|PMID:8598867|PMID:8667943|PMID:8838346|PMID:9700201 628868 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction no_association ISO RGD:1345363 D RGD:5128498|PMID:9716140 20110304 RGD DNA:polymorphism:exon: 628868 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345363 D RGD:5128481|PMID:10531147 20110304 RGD DNA:polymorphism:exon 628868 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 628868 Itgb3 integrin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628868 Itgb3 integrin subunit beta 3 gene DOID:783 end stage renal disease ISO RGD:1345363 D RGD:6907396|PMID:19368146 20121101 RGD associated with Hypertension;DNA:polymorphism 628868 Itgb3 integrin subunit beta 3 gene DOID:850 lung disease ISO RGD:737483 D RGD:5037229|PMID:19272161 20110303 RGD acute lung injury 628868 Itgb3 integrin subunit beta 3 gene DOID:874 bacterial pneumonia IEP D RGD:4993468|PMID:15114484 20110301 RGD protein:increased expression:lung, neutrophil 628868 Itgb3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1345363 D RGD:10755473|PMID:10936026 20160128 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:737483 D RGD:10755475|PMID:24258817 20160129 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:1345363 D RGD:8693344|PMID:11375345 20140711 RGD protein:increased expression:optic choroid vascular plexus: 628868 Itgb3 integrin subunit beta 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1345363 D RGD:13602095|PMID:21353223 20180530 RGD DNA:SNP: :rs5918(human) 628868 Itgb3 integrin subunit beta 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1345363 D RGD:10755463|PMID:18234279 20160128 RGD associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole 628868 Itgb3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 ISO RGD:1345363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 PMID:15583747|PMID:18065693|PMID:19336737|PMID:20081061|PMID:20804530|PMID:23253071|PMID:25741868|PMID:27469266|PMID:28492532|PMID:33276370 628868 Itgb3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 628868 Itgb3 integrin subunit beta 3 gene DOID:9000528 Coronary Disease ISO RGD:1345363 D RGD:5128478|PMID:10583927 20110304 RGD DNA:polymorphism:exon 628868 Itgb3 integrin subunit beta 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1345363 D RGD:5037231|PMID:15817799 20110303 RGD DNA:SNPs: : 628868 Itgb3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345363 D RGD:6907406|PMID:16831169 20121102 RGD associated with renal cell carcinoma;DNA:missense mutation:cds:p.L33P (human) 628868 Itgb3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737483 D RGD:5037225|PMID:21107114 20110303 RGD mRNA, protein:increased expression:lung 628868 Itgb3 integrin subunit beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628868 Itgb3 integrin subunit beta 3 gene DOID:9001627 Pathologic Constriction ISO RGD:1345363 D RGD:5128501|PMID:9315527 20110304 RGD DNA:polymorphism:exon 628868 Itgb3 integrin subunit beta 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15840736 628868 Itgb3 integrin subunit beta 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16158739 628868 Itgb3 integrin subunit beta 3 gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:11776310|PMID:1371279|PMID:15583747|PMID:1602006|PMID:25728920|PMID:25741868|PMID:28492532|PMID:30138987|PMID:32757236|PMID:9215749|PMID:9351872 628868 Itgb3 integrin subunit beta 3 gene DOID:9002457 Experimental Arthritis IMP D RGD:2317300|PMID:16869003 20110301 RGD protein:increased expression:endothelial cell 628868 Itgb3 integrin subunit beta 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 628868 Itgb3 integrin subunit beta 3 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2257303|PMID:7694683 628868 Itgb3 integrin subunit beta 3 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:2257303|PMID:25741868|PMID:25827233|PMID:28370162|PMID:28492532|PMID:7694683|PMID:8093349|PMID:8457479|PMID:9787162 628868 Itgb3 integrin subunit beta 3 gene DOID:9003758 Banti's Syndrome ISO RGD:1345363 D RGD:10755472|PMID:18685811 20160128 RGD DNA:missense mutation: :p.L33P (human) 628868 Itgb3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura ISO RGD:1345363 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:25741868|PMID:28492532|PMID:9787162 628868 Itgb3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 628868 Itgb3 integrin subunit beta 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345363 D RGD:8693342|PMID:21813062 20140711 RGD associated with Behcet Syndrome; DNA:polymorphism: : 628868 Itgb3 integrin subunit beta 3 gene DOID:9004009 Reperfusion Injury IMP D RGD:2316361|PMID:11705748 20100209 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:9005175 Ulcer susceptibility ISO RGD:1345363 D RGD:8693342|PMID:21813062 20140711 RGD associated with Behcet Syndrome; DNA:polymorphism: : 628868 Itgb3 integrin subunit beta 3 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:8693386|PMID:22022542 20140714 RGD protein:increased expression:mammary gland: 628868 Itgb3 integrin subunit beta 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8693385|PMID:12606526 20140714 RGD protein:increased expression:aorta: 628868 Itgb3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1345363 D RGD:10755471|PMID:8565280 20160128 RGD associated with HIV Infections 628868 Itgb3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:737483 D RGD:2316362|PMID:11493456 20100209 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:9005930 Endotoxemia IMP D RGD:2316360|PMID:15280099 20100209 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:4892652|PMID:17868879 20110228 RGD protein:increased expression:carotid artery 628868 Itgb3 integrin subunit beta 3 gene DOID:9006474 Arterial Occlusive Diseases IMP D RGD:4990460|PMID:16793666 20110301 RGD neointima 628868 Itgb3 integrin subunit beta 3 gene DOID:9007096 Stroke IMP D RGD:2316358|PMID:15678115 20100209 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 628868 Itgb3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:5128476|PMID:20846430 20110304 RGD associated with hypertension; DNA:polymorphism:exon 628868 Itgb3 integrin subunit beta 3 gene DOID:9007265 Hip Fractures ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17264806 628868 Itgb3 integrin subunit beta 3 gene DOID:9007402 Gliosis ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 628868 Itgb3 integrin subunit beta 3 gene DOID:9007533 Hantavirus Infections ISO RGD:737483 D RGD:6907410|PMID:15886525 20121102 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345363 D RGD:5128476|PMID:20846430 20110304 RGD associated with arteriosclerosis; DNA:polymorphism:exon 628868 Itgb3 integrin subunit beta 3 gene DOID:9008217 Hemorrhage ISO RGD:1345363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16153930 628868 Itgb3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 ISO RGD:1345363 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 PMID:11806996|PMID:1371279|PMID:1438206|PMID:15583747|PMID:1602006|PMID:16199547|PMID:16463284|PMID:20020534|PMID:2014236|PMID:21917754|PMID:2392682|PMID:2428841|PMID:25539746|PMID:25728920|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30138987|PMID:30828542|PMID:32757236|PMID:34355501|PMID:8080992|PMID:8471765|PMID:8781422|PMID:9160670|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9845537 628868 Itgb3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 susceptibility ISO RGD:1345363 D RGD:7240710 20230517 OMIM 628868 Itgb3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737483 D RGD:10755448|PMID:23770013 20160128 RGD 628868 Itgb3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1345363 D RGD:10755448|PMID:23770013 20160128 RGD 628869 Itgb5 integrin subunit beta 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 628869 Itgb5 integrin subunit beta 5 gene DOID:50 thyroid gland disease ISO RGD:1349145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 628869 Itgb5 integrin subunit beta 5 gene DOID:630 genetic disease ISO RGD:1349145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628869 Itgb5 integrin subunit beta 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349145 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 628869 Itgb5 integrin subunit beta 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 628869 Itgb5 integrin subunit beta 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349145 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 628869 Itgb5 integrin subunit beta 5 gene DOID:9270 alkaptonuria ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:0080855 Parkinsonism IEP D RGD:9999153|PMID:17435391 20150408 RGD protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:7240710 20130221 OMIM 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 25 PMID:11115382|PMID:18674745|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26797701|PMID:28492532|PMID:33229591 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:11446 sciatic neuropathy IEP D RGD:9999206|PMID:23835161 20150413 RGD protein:decreased expression:nucleus accumbens 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:224 transient cerebral ischemia IEP D RGD:9999193|PMID:23458738 20150410 RGD 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:5463 cochlear disease IEP D RGD:9999192|PMID:21215254 20150410 RGD 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:630 genetic disease ISO RGD:733222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:9002211 Hyperalgesia IEP D RGD:9999169|PMID:22160634 20150408 RGD protein:increased expression:dorsal horn of spinal cord, neuron 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733222 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 628870 Slc17a8 solute carrier family 17 member 8 gene DOID:9784 trichinosis IEP D RGD:9999169|PMID:22160634 20150408 RGD protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:10762 portal hypertension ISO RGD:1349853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Portal hypertension PMID:29382851|PMID:33956074 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:2843 long QT syndrome ISO RGD:1349853 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:614 lymphopenia IAGP D RGD:619544|PMID:12097339 20090213 RGD DNA:frameshift deletion 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:630 genetic disease ISO RGD:1349853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:9004499 Noncirrhotic Portal Hypertension 2 ISO RGD:1349853 D RGD:7240710 20210818 OMIM 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:9004499 Noncirrhotic Portal Hypertension 2 ISO RGD:1349853 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 2 PMID:29382851|PMID:33956074 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:619544|PMID:12097339 20090213 RGD DNA:frameshift deletion 628871 Gimap5 GTPase, IMAP family member 5 gene DOID:9744 type 1 diabetes mellitus IAGP D RGD:633092|PMID:12031988 19990101 RGD 628873 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 628873 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 628873 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 628873 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1606337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628874 Mnat1 MNAT1 component of CDK activating kinase gene DOID:630 genetic disease ISO RGD:733503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628874 Mnat1 MNAT1 component of CDK activating kinase gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:733503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:299 adenocarcinoma ISO RGD:1343245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:630 genetic disease ISO RGD:1343245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 628875 Gmpr2 guanosine monophosphate reductase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343245 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 628876 Fads3 fatty acid desaturase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1352711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 628876 Fads3 fatty acid desaturase 3 gene DOID:1059 intellectual disability ISO RGD:1352711 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628876 Fads3 fatty acid desaturase 3 gene DOID:630 genetic disease ISO RGD:1352711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628877 Sostdc1 sclerostin domain containing 1 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1343094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:23288328|PMID:28492532 628877 Sostdc1 sclerostin domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343094 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 628877 Sostdc1 sclerostin domain containing 1 gene DOID:630 genetic disease ISO RGD:1343094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:10140 dry eye syndrome ISO RGD:733191 D RGD:6218964|PMID:22355243 20120307 RGD protein:increased expression:corneal epithelium (mouse) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:11394 adult respiratory distress syndrome IDA D RGD:5688755|PMID:12235111 20120306 RGD 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:733190 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:12140 Chagas disease ISO RGD:733190 D RGD:6218957|PMID:21801456 20120307 RGD 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:1289 neurodegenerative disease ISO RGD:733191 D RGD:6218995|PMID:18601936 20120308 RGD protein:increased expression:dentate gyrus (mouse) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:14330 Parkinson's disease IEP D RGD:5686884|PMID:22186119 20120131 RGD protein:decreased expression:striatum (rat) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733190 D RGD:5688779|PMID:19350847 20120306 RGD protein:increased expression:serum (human) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733190 D RGD:5688781|PMID:22140545 20120306 RGD protein:increased expression:bronchial mucosa (human) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction IMP D RGD:5688754|PMID:17473852 20120305 RGD rat gene in mouse model 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:733191 D RGD:6218961|PMID:21709150 20120307 RGD 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:630 genetic disease ISO RGD:733190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733190 D RGD:5688784|PMID:22047640 20120306 RGD protein:increased expression:peripheral blood lymphocyte (human) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:8577 ulcerative colitis ISO RGD:733190 D RGD:5688753|PMID:22297444 20120305 RGD protein:increased expression:colon mucosa, epithelium (human) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9000998 Brain Injuries IEP D RGD:5688785|PMID:22067617 20120306 RGD protein:increased expression:cerebral white matter (rat) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9001553 Spinal Cord Compression ISO RGD:733191 D RGD:6218959|PMID:21787762 20120307 RGD protein:increased expression:spinal cord (mouse) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733190 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9004649 Heat Stroke IMP D RGD:5686871|PMID:22245947 20120130 RGD 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:916 liver benign neoplasm IEP D RGD:5686872|PMID:22213170 20120130 RGD protein:increased expression:liver (rat) 628878 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733190 D RGD:6218966|PMID:22349026 20120307 RGD protein:increased expression:serum (human) 628879 Eaf2 ELL associated factor 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 628879 Eaf2 ELL associated factor 2 gene DOID:0080600 COVID-19 ISO RGD:736664 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628879 Eaf2 ELL associated factor 2 gene DOID:10283 prostate cancer ISO RGD:736664 D RGD:634486|PMID:12907652 20130807 RGD protein:decreased expression:prostate gland 628879 Eaf2 ELL associated factor 2 gene DOID:630 genetic disease ISO RGD:736664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628879 Eaf2 ELL associated factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 628879 Eaf2 ELL associated factor 2 gene DOID:707 B-cell lymphoma ISO RGD:736664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 628879 Eaf2 ELL associated factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 628879 Eaf2 ELL associated factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 628879 Eaf2 ELL associated factor 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736664 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 628879 Eaf2 ELL associated factor 2 gene DOID:9270 alkaptonuria ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 628881 Chst15 carbohydrate sulfotransferase 15 gene DOID:630 genetic disease ISO RGD:1602484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628881 Chst15 carbohydrate sulfotransferase 15 gene DOID:9005172 Lung Neoplasms ISO RGD:1602484 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 628882 Elac2 elaC ribonuclease Z 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342597 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 628882 Elac2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 PMID:10986046|PMID:11175785|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:16199547|PMID:17576681|PMID:23849775|PMID:24033266|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28441660|PMID:28454995|PMID:28492532|PMID:30094188|PMID:30217939|PMID:31045291|PMID:32685970|PMID:32870709|PMID:34056100|PMID:34732400|PMID:9536098 628882 Elac2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 susceptibility ISO RGD:1342597 D RGD:7240710 20230517 OMIM 628882 Elac2 elaC ribonuclease Z 2 gene DOID:10907 microcephaly ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 628882 Elac2 elaC ribonuclease Z 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 628882 Elac2 elaC ribonuclease Z 2 gene DOID:2394 ovarian cancer ISO RGD:1342597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 628882 Elac2 elaC ribonuclease Z 2 gene DOID:630 genetic disease ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11175785|PMID:15863270|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291|PMID:32685970|PMID:34056100|PMID:34732400 628882 Elac2 elaC ribonuclease Z 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342597 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16114055 628882 Elac2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 2 PMID:10986046|PMID:11175785|PMID:11254448|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31045291 628882 Elac2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 susceptibility ISO RGD:1342597 D RGD:7240710 20230517 OMIM 628883 Ehd4 EH-domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:734140 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628883 Ehd4 EH-domain containing 4 gene DOID:630 genetic disease ISO RGD:734140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628883 Ehd4 EH-domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:734140 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628884 Prrx1 paired related homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 628884 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23444262 628884 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:7240710 20130221 OMIM 628884 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agnathia-otocephaly complex PMID:12244557|PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868 628884 Prrx1 paired related homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606834 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628884 Prrx1 paired related homeobox 1 gene DOID:3213 demyelinating disease ISO RGD:1606834 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30566868 628884 Prrx1 paired related homeobox 1 gene DOID:630 genetic disease ISO RGD:1606834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628884 Prrx1 paired related homeobox 1 gene DOID:9001031 Retrognathia ISO RGD:1606834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23444262 628884 Prrx1 paired related homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 628884 Prrx1 paired related homeobox 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606834 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 628884 Prrx1 paired related homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606834 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628885 Slc22a24 solute carrier family 22, member 24 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 628885 Slc22a24 solute carrier family 22, member 24 gene DOID:1059 intellectual disability ISO RGD:1603866 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 628885 Slc22a24 solute carrier family 22, member 24 gene DOID:3021 acute kidney failure ISO RGD:1603866 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:23649842|PMID:26230185 628885 Slc22a24 solute carrier family 22, member 24 gene DOID:630 genetic disease ISO RGD:1603866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628886 Optn optineurin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:20428114|PMID:21802176|PMID:21852022|PMID:25741868|PMID:26203661|PMID:28492532 628886 Optn optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:7240710 20130425 OMIM 628886 Optn optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21550138|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22892313|PMID:22995991|PMID:23062601|PMID:25333069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:27485216|PMID:28492532|PMID:29411640|PMID:29650794|PMID:31108397|PMID:31198474|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042 628886 Optn optineurin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736202 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 628886 Optn optineurin gene DOID:0080600 COVID-19 ISO RGD:736202 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 628886 Optn optineurin gene DOID:0081294 neuronal intranuclear inclusion disease ISO RGD:736202 D RGD:6480499|PMID:22318854 20120327 RGD protein:increased expression:neuron, nucleus 628886 Optn optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21059646|PMID:25096716 628886 Optn optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:1600995|PMID:11834836 20070402 RGD 628886 Optn optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:6480510|PMID:14627677 20120327 RGD DNA:polymorphism: :p.M98K (human) 628886 Optn optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:6480509|PMID:16020311 20120327 RGD DNA:polymorphism: :p.M98K (human) 628886 Optn optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:6480513|PMID:19096531 20120327 RGD DNA:missense mutations, SNP: :multiple 628886 Optn optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:7240710 20130221 OMIM 628886 Optn optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:16972651|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:19710941|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21550138|PMID:21613650|PMID:21802176|PMID:21852022|PMID:22366792|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:23357852|PMID:24683533|PMID:24983867|PMID:25333069|PMID:25382069|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25943890|PMID:26203661|PMID:26303227|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29558868|PMID:29650794|PMID:29895397|PMID:30519240|PMID:30739198|PMID:31000212|PMID:31108397|PMID:31198474|PMID:31759189|PMID:31788332|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042|PMID:9536098 628886 Optn optineurin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736202 D RGD:7775049|PMID:19172505 20131231 RGD DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG, 628886 Optn optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:7775041|PMID:15557444 20131231 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) 628886 Optn optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:7775043|PMID:15226658 20131231 RGD DNA:polymorphism:exon:p.M98K(human) 628886 Optn optineurin gene DOID:12858 Huntington's disease ISO RGD:736202 D RGD:6480499|PMID:22318854 20120327 RGD protein:increased expression:neuron, nucleus 628886 Optn optineurin gene DOID:13544 low tension glaucoma ISS RGD:733470 D RGD:13592920 20220602 MouseDO 628886 Optn optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:7771548|PMID:16148883 20131219 RGD DNA:SNPs:exon,introns: 628886 Optn optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:7775041|PMID:15557444 20131231 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) 628886 Optn optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:7775043|PMID:15226658 20131231 RGD DNA:polymorphism:exon:p.M98K(human) 628886 Optn optineurin gene DOID:13641 exfoliation syndrome no_association ISO RGD:736202 D RGD:6480509|PMID:16020311 20120327 RGD DNA:polymorphism: :p.M98K (human) 628886 Optn optineurin gene DOID:13948 bladder neck obstruction IEP D RGD:7775024|PMID:16361812 20131230 RGD protein:increased expression:urinary bladder: 628886 Optn optineurin gene DOID:14330 Parkinson's disease IEP D RGD:13432580|PMID:27473339 20171002 RGD protein:increased expression:substantia nigra (rat) 628886 Optn optineurin gene DOID:1686 glaucoma susceptibility ISO RGD:736202 D RGD:7771548|PMID:16148883 20131219 RGD DNA:SNP:intron: 628886 Optn optineurin gene DOID:224 transient cerebral ischemia IEP D RGD:13434905|PMID:24235151 20171004 RGD protein:decreased expression:cerebral cortex (rat) 628886 Optn optineurin gene DOID:231 motor neuron disease ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21613650|PMID:28089114|PMID:28492532|PMID:31000212|PMID:32028661 628886 Optn optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21059646|PMID:25096716 628886 Optn optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:6480502|PMID:21825243 20120327 RGD protein:increased expression:spinal cord, neuron 628886 Optn optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:6480504|PMID:21613650 20120327 RGD DNA:missense mutations, nonsense mutation:cds, intron:multiple 628886 Optn optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:6480506|PMID:20428114 20120327 RGD DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human) 628886 Optn optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 628886 Optn optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:20436471|PMID:21059646 628886 Optn optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:6480512|PMID:20436471 20140205 RGD DNA:SNP: :rs1561570 (human) 628886 Optn optineurin gene DOID:576 proteinuria IEP D RGD:13434904|PMID:25096716 20171004 RGD associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) 628886 Optn optineurin gene DOID:630 genetic disease ISO RGD:736202 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11834836|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15326130|PMID:16205626|PMID:16358725|PMID:17293779|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19672125|PMID:20388642|PMID:20428114|PMID:21074290|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22722621|PMID:22892313|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29525178|PMID:29558868|PMID:30739198|PMID:31000212|PMID:32028661|PMID:32579787|PMID:9536098 628886 Optn optineurin gene DOID:8466 retinal degeneration ISO RGD:733470 D RGD:6480507|PMID:20388642 20120327 RGD 628886 Optn optineurin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736202 D RGD:6480499|PMID:22318854 20140129 RGD protein:increased expression:neuron, nucleus 628886 Optn optineurin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736202 D RGD:724387|PMID:12379221 19990101 RGD protein:increased expression:neuron, nucleus 628886 Optn optineurin gene DOID:9000930 Dental Pulp Exposure IEP D RGD:7775038|PMID:16109995 20171002 RGD mRNA:increased expression:dental pulp (rat) 628886 Optn optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:7240710 20230505 OMIM 628886 Optn optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to PMID:11834836|PMID:11978762|PMID:12208142|PMID:15761120|PMID:16619239|PMID:25741868|PMID:28492532 628886 Optn optineurin gene DOID:9001600 Wounds and Injuries IEP D RGD:7775038|PMID:16109995 20131231 RGD 628886 Optn optineurin gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:736202 D RGD:6480505|PMID:21360076 20120327 RGD 628886 Optn optineurin gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736202 D RGD:6480499|PMID:22318854 19990101 RGD protein:increased expression:neuron, nucleus 628886 Optn optineurin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e PMID:11834836|PMID:11978762|PMID:12208142|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:17293779|PMID:17359525|PMID:17389490|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21217154|PMID:21220178|PMID:22402017|PMID:22708870|PMID:22995991|PMID:23062601|PMID:24683533|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26566915|PMID:26740678|PMID:27485216|PMID:28492532|PMID:29411640|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474 628886 Optn optineurin gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:736202 D RGD:8554872 20170117 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive 628886 Optn optineurin gene DOID:9255 frontotemporal dementia ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 628887 Dcps decapping enzyme, scavenger gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 628887 Dcps decapping enzyme, scavenger gene DOID:5419 schizophrenia ISO RGD:1344529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628887 Dcps decapping enzyme, scavenger gene DOID:630 genetic disease ISO RGD:1344529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 628887 Dcps decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:7240710 20170215 OMIM 628887 Dcps decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Al-Raqad syndrome PMID:25701870|PMID:25712129|PMID:25741868|PMID:28492532|PMID:30289615 628887 Dcps decapping enzyme, scavenger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344529 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 628887 Dcps decapping enzyme, scavenger gene DOID:9007661 Dwarfism ISO RGD:1344529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 628888 Osbpl1a oxysterol binding protein-like 1A gene DOID:1059 intellectual disability ISO RGD:731675 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 628888 Osbpl1a oxysterol binding protein-like 1A gene DOID:630 genetic disease ISO RGD:731675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628889 Gjc1 gap junction protein, gamma 1 gene DOID:10763 hypertension ISO RGD:1350984 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19109587 628889 Gjc1 gap junction protein, gamma 1 gene DOID:630 genetic disease ISO RGD:1350984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628890 Gja8 gap junction protein, alpha 8 gene DOID:0060041 autism spectrum disorder ISO RGD:732563 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 628890 Gja8 gap junction protein, alpha 8 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:732563 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 628890 Gja8 gap junction protein, alpha 8 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:26694549|PMID:28492532 628890 Gja8 gap junction protein, alpha 8 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:732563 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 628890 Gja8 gap junction protein, alpha 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732563 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:32499604 628890 Gja8 gap junction protein, alpha 8 gene DOID:0110231 cataract 1 multiple types IAGP D RGD:2293186|PMID:18470322 20170412 RGD DNA:missense mutation:cds:p.L7Q(rat) 628890 Gja8 gap junction protein, alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:7240710 20130731 OMIM 628890 Gja8 gap junction protein, alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract PMID:10362609|PMID:10480374|PMID:11846744|PMID:12800976|PMID:14059288|PMID:14627691|PMID:16397066|PMID:16604058|PMID:16611690|PMID:17601931|PMID:17724170|PMID:18003700|PMID:18006672|PMID:18334946|PMID:18334966|PMID:18587493|PMID:19073179|PMID:19126675|PMID:19331825|PMID:19684000|PMID:21174522|PMID:21228318|PMID:21686328|PMID:23508780|PMID:23555834|PMID:23720739|PMID:23734083|PMID:23772370|PMID:24281366|PMID:24535056|PMID:24968223|PMID:25003127|PMID:25260631|PMID:25517998|PMID:25741868|PMID:26694549|PMID:27216975|PMID:27990357|PMID:28392901|PMID:28492532|PMID:29461512|PMID:29464339|PMID:30078984|PMID:30498267|PMID:30928190|PMID:33218330|PMID:33494148|PMID:34101287|PMID:35531093|PMID:9497259 628890 Gja8 gap junction protein, alpha 8 gene DOID:0110233 cataract 27 ISO RGD:732563 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:14627691 628890 Gja8 gap junction protein, alpha 8 gene DOID:10629 microphthalmia IAGP D RGD:2293186|PMID:18470322 20170412 RGD DNA:missense mutation:cds:p.L7Q(rat) 628890 Gja8 gap junction protein, alpha 8 gene DOID:10629 microphthalmia ISO RGD:732563 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 628890 Gja8 gap junction protein, alpha 8 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:26694549|PMID:28492532 628890 Gja8 gap junction protein, alpha 8 gene DOID:1540 parathyroid carcinoma ISO RGD:732563 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 628890 Gja8 gap junction protein, alpha 8 gene DOID:5419 schizophrenia ISO RGD:732563 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 628890 Gja8 gap junction protein, alpha 8 gene DOID:630 genetic disease ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19684000|PMID:21686328|PMID:26694549|PMID:27785597|PMID:28455998|PMID:28492532 628890 Gja8 gap junction protein, alpha 8 gene DOID:83 cataract IAGP D RGD:629571|PMID:12356818 19990101 RGD 628890 Gja8 gap junction protein, alpha 8 gene DOID:83 cataract ISO RGD:732563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9497259 628890 Gja8 gap junction protein, alpha 8 gene DOID:83 cataract ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:18334946|PMID:21228318|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 628890 Gja8 gap junction protein, alpha 8 gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:732563 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16604058 628890 Gja8 gap junction protein, alpha 8 gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract microcornea syndrome PMID:18334946|PMID:21228318|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 628890 Gja8 gap junction protein, alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732563 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 628890 Gja8 gap junction protein, alpha 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732563 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 628891 Ppp1r14d protein phosphatase 1, regulatory (inhibitor) subunit 14D gene DOID:2717 Bloom syndrome ISO RGD:1350290 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 628891 Ppp1r14d protein phosphatase 1, regulatory (inhibitor) subunit 14D gene DOID:630 genetic disease ISO RGD:1350290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628891 Ppp1r14d protein phosphatase 1, regulatory (inhibitor) subunit 14D gene DOID:9256 colorectal cancer ISO RGD:1350290 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 628892 Elavl3 ELAV like RNA binding protein 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 628892 Elavl3 ELAV like RNA binding protein 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 628892 Elavl3 ELAV like RNA binding protein 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 628892 Elavl3 ELAV like RNA binding protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 628892 Elavl3 ELAV like RNA binding protein 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1343972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 628892 Elavl3 ELAV like RNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1343972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628893 Plpp2 phospholipid phosphatase 2 gene DOID:630 genetic disease ISO RGD:734254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628893 Plpp2 phospholipid phosphatase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734254 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 628894 Nptx1 neuronal pentraxin 1 gene DOID:630 genetic disease ISO RGD:1321571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628894 Nptx1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:7240710 20230104 OMIM 628894 Nptx1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 50 PMID:25741868|PMID:34788392|PMID:35285082|PMID:35560436 628895 Aurka aurora kinase A gene DOID:0080600 COVID-19 ISO RGD:1353168 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 628895 Aurka aurora kinase A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1353168 D RGD:2293871|PMID:18485461 20080618 RGD mRNA, protein:increased expression:urinary bladder 628895 Aurka aurora kinase A gene DOID:1909 melanoma ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 628895 Aurka aurora kinase A gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353168 D RGD:2293872|PMID:18314619 20080618 RGD mRNA, protein:increased expression:ovary 628895 Aurka aurora kinase A gene DOID:219 colon cancer ISO RGD:1353168 D RGD:8554872 20210216 ClinVar ClinVar Annotator: match by term: Colon cancer, susceptibility to PMID:10511710|PMID:12881723|PMID:9771714 628895 Aurka aurora kinase A gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353168 D RGD:2293884|PMID:15466974 20080620 RGD DNA:SNP:cds:p.F31I 628895 Aurka aurora kinase A gene DOID:2871 endometrial carcinoma ISO RGD:1353168 D RGD:2293878|PMID:16311121 20080619 RGD mRNA, protein:increased expression:endometrium 628895 Aurka aurora kinase A gene DOID:3008 invasive ductal carcinoma ISO RGD:1353168 D RGD:1643348|PMID:14693746 20071231 RGD protein:altered expression 628895 Aurka aurora kinase A gene DOID:363 uterine cancer susceptibility ISO RGD:1353168 D RGD:2293873|PMID:17599395 20080618 RGD DNA:SNP:cds:p.F31I 628895 Aurka aurora kinase A gene DOID:4450 renal cell carcinoma ISO RGD:1353168 D RGD:1643346|PMID:17349527 20071231 RGD mRNA, protein:increased expression:kidney 628895 Aurka aurora kinase A gene DOID:574 peripheral nervous system disease ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 628895 Aurka aurora kinase A gene DOID:630 genetic disease ISO RGD:1353168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628895 Aurka aurora kinase A gene DOID:684 hepatocellular carcinoma ISO RGD:1353168 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 628895 Aurka aurora kinase A gene DOID:769 neuroblastoma ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22588779 628895 Aurka aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:2293877|PMID:16707419 20080619 RGD 628895 Aurka aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:2293883|PMID:15754349 20080620 RGD protein:increased expression:prostate gland 628895 Aurka aurora kinase A gene DOID:9002265 Kidney Neoplasms ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 628895 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17898866 628895 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:2293877|PMID:16707419 20080619 RGD 628895 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:2293883|PMID:15754349 20080620 RGD protein:increased expression:prostate gland 628895 Aurka aurora kinase A gene DOID:9003882 Chromosomal Instability ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 628895 Aurka aurora kinase A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353168 D RGD:32716380|PMID:20189883 20200626 RGD mRNA:increased expression:CD19+Bcell: 628895 Aurka aurora kinase A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1353168 D RGD:2293874|PMID:17465238 20080618 RGD 628895 Aurka aurora kinase A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12124350 628895 Aurka aurora kinase A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 628895 Aurka aurora kinase A gene DOID:9008692 Aneuploidy ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 628895 Aurka aurora kinase A gene DOID:9008939 Breast Neoplasms ISO RGD:1353168 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 628895 Aurka aurora kinase A gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353168 D RGD:7240710 20230505 OMIM 628895 Aurka aurora kinase A gene DOID:9538 multiple myeloma ISO RGD:1353168 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 628896 Angpt1 angiopoietin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733136 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 628896 Angpt1 angiopoietin 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733136 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:25741868|PMID:28492532 628896 Angpt1 angiopoietin 1 gene DOID:10286 prostate carcinoma ISO RGD:733136 D RGD:1643336|PMID:11326698 20071231 RGD protein:increased expression:prostate gland 628896 Angpt1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:1626157|PMID:16942942 20070716 RGD protein:increased expression:plasma, platelet 628896 Angpt1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:2316068|PMID:18285514 20100122 RGD 628896 Angpt1 angiopoietin 1 gene DOID:10808 gastric ulcer IEP D RGD:1601496|PMID:12768384 20070719 RGD protein:increased expression:stomach 628896 Angpt1 angiopoietin 1 gene DOID:2316 brain ischemia ISO RGD:733136 D RGD:1643339|PMID:17637706 20071231 RGD 628896 Angpt1 angiopoietin 1 gene DOID:2394 ovarian cancer ISO RGD:733136 D RGD:2293864|PMID:12138242 20080618 RGD mRNA:decreased expression:ovary 628896 Angpt1 angiopoietin 1 gene DOID:2527 nephrosis IEP D RGD:1626164|PMID:16626513 20070716 RGD mRNA, protein:decreased expression:glomerulus 628896 Angpt1 angiopoietin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733136 D RGD:2293863|PMID:15517881 20080618 RGD 628896 Angpt1 angiopoietin 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733136 D RGD:2293852|PMID:17295646 20080616 RGD protein:increased expression:endometrium epithelium 628896 Angpt1 angiopoietin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:733136 D RGD:1643335|PMID:17505508 20071231 RGD mRNA:altered expression:kidney 628896 Angpt1 angiopoietin 1 gene DOID:5844 myocardial infarction IEP D RGD:1626168|PMID:15364619 20070719 RGD mRNA, protein:decreased expression:myocardium 628896 Angpt1 angiopoietin 1 gene DOID:630 genetic disease ISO RGD:733136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628896 Angpt1 angiopoietin 1 gene DOID:6432 pulmonary hypertension IEP D RGD:2316069|PMID:18073453 20100122 RGD protein:decreased expression:pulmonary artery 628896 Angpt1 angiopoietin 1 gene DOID:8719 in situ carcinoma IEP D RGD:1626167|PMID:15459484 20070717 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland 628896 Angpt1 angiopoietin 1 gene DOID:8947 diabetic retinopathy ISO RGD:733136 D RGD:2313818|PMID:12000720 20091016 RGD associated with Diabetes Mellitus, Experimental 628896 Angpt1 angiopoietin 1 gene DOID:9000040 Hypertrophy ISO RGD:733136 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18502941 628896 Angpt1 angiopoietin 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:733136 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30476904 628896 Angpt1 angiopoietin 1 gene DOID:9000784 Fibrosis ISO RGD:733136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18480750|PMID:18626492 628896 Angpt1 angiopoietin 1 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression IEP D RGD:1643338|PMID:17935226 20071231 RGD protein:increased expression:liver 628896 Angpt1 angiopoietin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:733136 D RGD:2316067|PMID:18344375 20100122 RGD 628896 Angpt1 angiopoietin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733136 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30476904 628896 Angpt1 angiopoietin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733136 D RGD:2316041|PMID:19885826 20100122 RGD 628896 Angpt1 angiopoietin 1 gene DOID:9004484 Sepsis ISO RGD:733136 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16005988 628896 Angpt1 angiopoietin 1 gene DOID:9004575 Neoplasm Invasiveness IEP D RGD:1626167|PMID:15459484 20070717 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland 628896 Angpt1 angiopoietin 1 gene DOID:9005372 Inflammation ISO RGD:733136 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18480750 628896 Angpt1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1626163|PMID:17294737 20070716 RGD 628896 Angpt1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313817|PMID:15047628 20091016 RGD protein:increased expression:retina 628896 Angpt1 angiopoietin 1 gene DOID:9007096 Stroke IEP D RGD:1626162|PMID:17356562 20070716 RGD 628896 Angpt1 angiopoietin 1 gene DOID:9007096 Stroke IEP D RGD:704373|PMID:11822892 19990101 RGD 628896 Angpt1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:7240710 20210616 OMIM 628896 Angpt1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 5 PMID:28492532|PMID:28601681|PMID:30689269 628896 Angpt1 angiopoietin 1 gene DOID:9007402 Gliosis ISO RGD:733136 D RGD:11554173 20210510 CTD CTD Direct Evidence: therapeutic PMID:30476904 628897 Selenos selenoprotein S gene DOID:0050860 colorectal adenoma ISO RGD:1601754 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:decreased expression:colorectum (human) 628897 Selenos selenoprotein S gene DOID:0080199 colorectal carcinoma ISO RGD:1601754 D RGD:151665806|PMID:30469315 20220405 RGD mRNA:decreased expression:colorectum (human) 628897 Selenos selenoprotein S gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 628897 Selenos selenoprotein S gene DOID:630 genetic disease ISO RGD:1601754 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628897 Selenos selenoprotein S gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 628897 Selenos selenoprotein S gene DOID:9005372 Inflammation ISO RGD:1601754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16227999 628898 Nptxr neuronal pentraxin receptor gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 628898 Nptxr neuronal pentraxin receptor gene DOID:2316 brain ischemia IEP D RGD:1642302|PMID:12242102 20070911 RGD mRNA:decreased expression:neocortex 628898 Nptxr neuronal pentraxin receptor gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20070910 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum 628898 Nptxr neuronal pentraxin receptor gene DOID:630 genetic disease ISO RGD:1607068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:734463 D RGD:127229925|PMID:33625952 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734463 D RGD:127229940|PMID:29853772 20210604 RGD protein:increased expression:optic cup, retina (mouse) 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342902 D RGD:127229938|PMID:21425308 20210604 RGD mRNA:increased expression:liver (human) 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734463 D RGD:7777166|PMID:22908283 20140106 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:10844 Japanese encephalitis ameliorates ISO RGD:734463 D RGD:127229907|PMID:32265853 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342902 D RGD:127229928|PMID:31080811 20210603 RGD associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human) 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:11573 listeriosis exacerbates ISO RGD:734463 D RGD:127229912|PMID:30975711 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:734463 D RGD:127229923|PMID:33303545 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:1508 candidiasis exacerbates ISO RGD:734463 D RGD:127229913|PMID:30944411 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:182 calcinosis ISO RGD:1342902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:2723 dermatitis ISO RGD:734463 D RGD:7777169|PMID:22000287 20140106 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:3298 vaccinia exacerbates ISO RGD:734463 D RGD:127229939|PMID:19524513 20210604 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:399 tuberculosis exacerbates ISO RGD:734463 D RGD:127229926|PMID:29892302 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:4079 heart valve disease ISO RGD:1342902 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:4492 avian influenza ameliorates ISO RGD:734463 D RGD:127229942|PMID:28423682 20210604 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1342902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:824 periodontitis treatment ISO RGD:734463 D RGD:127229920|PMID:31758083 20210603 RGD associated with Gram-Negative Bacterial Infections 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:8466 retinal degeneration ISO RGD:734463 D RGD:7777167|PMID:23954861 20140106 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:8566 herpes simplex exacerbates ISO RGD:734463 D RGD:127229943|PMID:25316792 20210604 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:8566 herpes simplex exacerbates ISO RGD:734463 D RGD:40902865|PMID:30050136 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:874 bacterial pneumonia ameliorates ISO RGD:734463 D RGD:127229944|PMID:28387756 20210604 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1342902 D RGD:127229914|PMID:30996211 20210603 RGD associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human) 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9000371 influenza A exacerbates ISO RGD:734463 D RGD:127229911|PMID:27321907 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9000371 influenza A exacerbates ISO RGD:734463 D RGD:127229922|PMID:32200799 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9000371 influenza A susceptibility ISO RGD:734463 D RGD:127229918|PMID:28410401 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9001004 Chronic Periodontitis ISO RGD:1342902 D RGD:127229937|PMID:30814594 20210604 RGD protein:increased expression,'increased phosphorylation:gingiva (human) 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:734463 D RGD:127229910|PMID:25445964 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9001415 Mycobacterium Infections ameliorates ISO RGD:734463 D RGD:127229921|PMID:28401933 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9002834 Herpesviridae Infections ISO RGD:734463 D RGD:127229917|PMID:31985117 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9004379 Vesicular Stomatitis ameliorates ISO RGD:734463 D RGD:127229916|PMID:25326752 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:734463 D RGD:127229909|PMID:22195746 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:734463 D RGD:127229919|PMID:32152555 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9004484 Sepsis no_association ISO RGD:734463 D RGD:127229908|PMID:23835476 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9005966 Staphylococcal Skin Infections ameliorates ISO RGD:734463 D RGD:127229915|PMID:27524612 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:734463 D RGD:127229927|PMID:29847649 20210603 RGD 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342902 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:26769846 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734463 D RGD:127229945|PMID:28205631 20210604 RGD protein:increased expression:liver (mouse) 628899 Ripk3 receptor-interacting serine-threonine kinase 3 gene DOID:9452 fatty liver disease ISO RGD:1342902 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:26769846 628900 Sorbs3 sorbin and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1604395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628900 Sorbs3 sorbin and SH3 domain containing 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:0050476 Barth syndrome ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343373 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:12849 autistic disorder ISO RGD:1343373 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:13628 favism ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:607 paraplegia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:630 genetic disease ISO RGD:1343373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628901 Arhgap4 Rho GTPase activating protein 4 gene DOID:9002720 Splenomegaly ISO RGD:1343373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 628902 Atf5 activating transcription factor 5 gene DOID:12858 Huntington's disease ISO RGD:1350993 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 628902 Atf5 activating transcription factor 5 gene DOID:3070 high grade glioma ISO RGD:1350993 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 628902 Atf5 activating transcription factor 5 gene DOID:630 genetic disease ISO RGD:1350993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628904 Homez homeobox and leucine zipper encoding gene DOID:0060439 lysinuric protein intolerance ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 628904 Homez homeobox and leucine zipper encoding gene DOID:630 genetic disease ISO RGD:735425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 628904 Homez homeobox and leucine zipper encoding gene DOID:9000265 Specific Granule Deficiency ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 628904 Homez homeobox and leucine zipper encoding gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735425 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 629459 ZUC-LeprfaSteJrpz-/- strain DOID:1168 familial hyperlipidemia susceptibility IAGP D RGD:628436|PMID:11135055 19990101 RGD compared to heterozygous controls +/fa 629459 ZUC-LeprfaSteJrpz-/- strain DOID:557 kidney disease susceptibility IAGP D RGD:628436|PMID:11135055 20200430 RGD compared to heterozygous +/fa rats 629459 ZUC-LeprfaSteJrpz-/- strain DOID:9002916 Hyperphagia susceptibility IAGP D RGD:24922198|PMID:10719837 20200430 RGD compared to heterozygous controls +/fa 629459 ZUC-LeprfaSteJrpz-/- strain DOID:9970 obesity MODEL:spontaneous IAGP D RGD:24922198|PMID:10719837 20200430 RGD compared to heterozygous controls +/fa 629459 ZUC-LeprfaSteJrpz-/- strain DOID:9970 obesity MODEL:spontaneous IAGP D RGD:628436|PMID:11135055 19990101 RGD compared to heterozygous +/fa 629462 ZUC-LeprfaSte-/- strain DOID:576 proteinuria sexual_dimorphism IAGP D RGD:7365117|PMID:20159938 20131023 RGD compared to BN 629462 ZUC-LeprfaSte-/- strain DOID:9002916 Hyperphagia MODEL: spontaneous IAGP D RGD:628910|PMID:9843879 20200430 RGD compared to age-matched lean +/fa rats 629462 ZUC-LeprfaSte-/- strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:628910|PMID:9843879 20200430 RGD compared to age-matched lean +/fa rats 629462 ZUC-LeprfaSte-/- strain DOID:9970 obesity MODEL:spontaneous IAGP D RGD:628581|PMID:11500530 19990101 RGD compared to heterozygous controls +/fa 629462 ZUC-LeprfaSte-/- strain DOID:9970 obesity sexual_dimorphism IAGP D RGD:7365117|PMID:20159938 20131023 RGD compared to BN 629463 ZUC-Lepr+Ste strain DOID:9002916 Hyperphagia MODEL: control IAGP D RGD:628581|PMID:11500530 20200430 RGD compared to homozygous fa/fa or -/- rats 629463 ZUC-Lepr+Ste strain DOID:9002916 Hyperphagia MODEL: control IAGP D RGD:628910|PMID:9843879 20200430 RGD compared to age-matched obese fa/fa rats 629463 ZUC-Lepr+Ste strain DOID:9970 obesity MODEL: control IAGP D RGD:628581|PMID:11500530 20200430 RGD compared to homozygous fa/fa or -/- rats 629463 ZUC-Lepr+Ste strain DOID:9970 obesity MODEL: control IAGP D RGD:628910|PMID:9843879 20200430 RGD compared to age-matched obese fa/fa rats 629465 SHR/NCrlCrlj strain DOID:10763 hypertension IAGP D RGD:629460|PMID:10391208 20201005 RGD compared to WKY 629471 Rgs19 regulator of G-protein signaling 19 gene DOID:630 genetic disease ISO RGD:1353904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553698 D RGD:13782363|PMID:24725413 20180907 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:13782362|PMID:28578378 20180907 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:13782364|PMID:19154537 20180907 RGD DNA:SNP:3' UTR:rs735555 (human) 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:1553698 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:12098 trigeminal neuralgia IEP D RGD:13782378|PMID:21161138 20180910 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:1459 hypothyroidism IEP D RGD:13782376|PMID:22987596 20180907 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:1561 cognitive disorder ISO RGD:733787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:1596 depressive disorder NOT IEP D RGD:13782377|PMID:21682945 20180907 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:733787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IEP D RGD:13782374|PMID:25301568 20180907 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IMP D RGD:13782373|PMID:25665755 20180907 RGD 629472 Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 gene DOID:936 brain disease ISO RGD:733787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15665076 629473 Camk1 calcium/calmodulin-dependent protein kinase I gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731618 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 629473 Camk1 calcium/calmodulin-dependent protein kinase I gene DOID:2843 long QT syndrome ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 629473 Camk1 calcium/calmodulin-dependent protein kinase I gene DOID:630 genetic disease ISO RGD:731618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 629473 Camk1 calcium/calmodulin-dependent protein kinase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731618 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 629473 Camk1 calcium/calmodulin-dependent protein kinase I gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731618 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 629474 Stk16 serine/threonine kinase 16 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1342506 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 629474 Stk16 serine/threonine kinase 16 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 629474 Stk16 serine/threonine kinase 16 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 629474 Stk16 serine/threonine kinase 16 gene DOID:1148 polydactyly ISO RGD:1342506 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 629474 Stk16 serine/threonine kinase 16 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 629474 Stk16 serine/threonine kinase 16 gene DOID:630 genetic disease ISO RGD:1342506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 629474 Stk16 serine/threonine kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342506 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:0060041 autism spectrum disorder ISO RGD:1344336 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:12849 autistic disorder ISO RGD:1344336 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:630 genetic disease ISO RGD:1344336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344336 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:7240710 20190315 OMIM 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532|PMID:29330883 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344336 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515|PMID:27087320 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:9008086 Developmental Disabilities ISO RGD:1344336 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 629475 Rere arginine-glutamic acid dipeptide repeats gene DOID:9008582 Developmental Disease ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 629476 Ggta1 glycoprotein alpha-galactosyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350501 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 629484 LEW-tl strain DOID:9007083 Edentulous Mouth IAGP D RGD:70875|PMID:12074592 20180430 RGD 629485 LE/Stm strain DOID:0080916 erythroleukemia induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD 629488 SI-Tg(Ednrb)Ywa transgenic spotting lethal strain DOID:10763 hypertension IMP D RGD:628518|PMID:10749572 20171204 RGD 629490 DA.F344-Aia1/1 strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000266 D RGD:625379|PMID:11953987 19990101 RGD compared to F344/NHsd 629491 DA.F344-Aia1/2 strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000266 D RGD:625379|PMID:11953987 19990101 RGD compared to F344/NHsd 629492 Sl strain DOID:10487 Hirschsprung's disease MODEL IAGP D RGD:1342447|PMID:8589685 20061030 RGD 629492 Sl strain DOID:8437 intestinal obstruction IMP D RGD:628516|PMID:9739043 19990101 RGD 629492 Sl strain DOID:9008539 Perinatal Death IAGP D RGD:628515|PMID:8570650 20210408 RGD 629493 DA.F344-Aia1/3 strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000266 D RGD:625379|PMID:11953987 19990101 RGD compared to F344/NHsd 629494 DA.F344-Aia1/4 strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000266 D RGD:625379|PMID:11953987 19990101 RGD compared to F344/NHsd 629501 SD-Tg(Ren2)27 strain DOID:10763 hypertension MODEL: spontaneous IMP D RGD:13513906|PMID:16882881 20191202 RGD compared with SD-Tg(Ren2)27-/- 629501 SD-Tg(Ren2)27 strain DOID:10763 hypertension MODEL: spontaneous IMP D RGD:628589|PMID:2181319 20200213 RGD compared with SD-Tg(Ren2)27-/- 629501 SD-Tg(Ren2)27 strain DOID:10763 hypertension treatment IMP XCO:0000270 D RGD:628589|PMID:2181319 19990101 RGD 629501 SD-Tg(Ren2)27 strain DOID:9004616 Left Ventricular Hypertrophy IMP D RGD:13513906|PMID:16882881 20191202 RGD compared with SD-Tg(Ren2)27-/- 629509 FHH/EurMcwi strain DOID:0050851 glomerulosclerosis IAGP D RGD:1579884|PMID:16303858 20200117 RGD 629509 FHH/EurMcwi strain DOID:576 proteinuria IAGP D RGD:1303373|PMID:14988259 20070220 RGD 629509 FHH/EurMcwi strain DOID:576 proteinuria MODEL: spontaneous IAGP D RGD:1357409|PMID:15758045 20201030 RGD compared to BN 629509 FHH/EurMcwi strain DOID:576 proteinuria induces IMP XCO:0000329 D RGD:150340736|PMID:32029431 20210913 RGD Associated with hypertension, compared to FHH-Tg(CAG-Add3)McwiRoman 629509 FHH/EurMcwi strain DOID:9001542 Albuminuria IAGP D RGD:13782139|PMID:23291471 20191212 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi 629509 FHH/EurMcwi strain DOID:9001542 Albuminuria MODEL: spontaneous IAGP D RGD:1357409|PMID:15758045 20201030 RGD compared to BN 629510 SS.BN-(D12Arb13-D12Rat79)/Mcwi strain DOID:9001542 Albuminuria sexual_dimorphism IAGP XCO:0000022 D RGD:2300225|PMID:18653478 20200122 RGD compared to male SS/JrHsdMcwi�� 629511 SS-Chr 2BN/Mcwi strain DOID:0050851 glomerulosclerosis ameliorates IAGP D RGD:12792230|PMID:27270176 20210409 RGD compared to SS/JrHsdMcwi 629511 SS-Chr 2BN/Mcwi strain DOID:9001542 Albuminuria ameliorates IAGP D RGD:12792230|PMID:27270176 20210409 RGD 629511 SS-Chr 2BN/Mcwi strain DOID:9003311 Urinary Calculi induced IAGP XCO:0000649 D RGD:2313354|PMID:19493966 20090918 RGD compared to SS/JrHsdMcwi 629524 SS-Chr 16BN/Mcwi strain DOID:11984 hypertrophic cardiomyopathy MODEL IAGP D RGD:1598977|PMID:17204904 20070117 RGD 629524 SS-Chr 16BN/Mcwi strain DOID:9003936 Cardiomegaly MODEL IAGP D RGD:1598977|PMID:17204904 20070117 RGD 629525 SS-Chr 18BN/Mcwi strain DOID:9003311 Urinary Calculi induced IAGP XCO:0000649 D RGD:2313354|PMID:19493966 20090918 RGD compared to SS/JrHsdMcwi 629617 Dock9 dedicator of cytokinesis 9 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 629617 Dock9 dedicator of cytokinesis 9 gene DOID:4621 holoprosencephaly ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 629617 Dock9 dedicator of cytokinesis 9 gene DOID:630 genetic disease ISO RGD:1348065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 629617 Dock9 dedicator of cytokinesis 9 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348065 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 631158 DXE1/Ztm strain DOID:7148 rheumatoid arthritis severity IAGP XCO:0000263 D RGD:629570|PMID:11090241 20191121 RGD compared to control strain E3/ZtmRhd 631158 DXE1/Ztm strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000263 D RGD:61088|PMID:8909256 20200720 RGD 631160 DXE2/Ztm strain DOID:7148 rheumatoid arthritis severity IAGP XCO:0000263 D RGD:629570|PMID:11090241 20191121 RGD compared to control strain E3/ZtmRhd 631160 DXE2/Ztm strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000263 D RGD:61088|PMID:8909256 20200720 RGD 631182 DA/BklArbN strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000281 D RGD:629569|PMID:12209529 20200730 RGD compared to F344/NHsd 631182 DA/BklArbN strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000263 D RGD:629569|PMID:12209529 20200730 RGD compared to F344/NHsd 631182 DA/BklArbN strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281 D RGD:631168|PMID:11003387 20200720 RGD 631182 DA/BklArbN strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263|XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD 631182 DA/BklArbN strain DOID:9002457 Experimental Arthritis sexual_dimorphism IAGP XCO:0000281 D RGD:629569|PMID:12209529 20200730 RGD compared to male 631198 Cm22 Cardiac mass QTL 22 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:61484|PMID:9495256 19990101 RGD 631199 Cm23 Cardiac mass QTL 23 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:61484|PMID:9495256 19990101 RGD 631200 Cm25 Cardiac mass QTL 25 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:69706|PMID:10205229 19990101 RGD 631201 Panci1 Pancreas inflammation QTL 1 qtl DOID:4989 pancreatitis IDA D RGD:619682|PMID:11414764 19990101 RGD 631202 Gluco13 Glucose level QTL 13 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:631173|PMID:12705906 19990101 RGD 631203 Gluco14 Glucose level QTL 14 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:631173|PMID:12705906 19990101 RGD 631204 Gluco15 Glucose level QTL 15 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:631173|PMID:12705906 19990101 RGD 631205 Bp196 Blood pressure QTL 196 qtl DOID:10763 hypertension IDA D RGD:61484|PMID:9495256 19990101 RGD 631206 Niddm40 Non-insulin dependent diabetes mellitus QTL 40 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619671|PMID:10902185 19990101 RGD 631207 Niddm41 Non-insulin dependent diabetes mellitus QTL 41 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:619671|PMID:10902185 20121001 RGD 631208 Bw1 Body weight QTL1 qtl DOID:9970 obesity IDA D RGD:619690|PMID:11087657 19990101 RGD 631209 Bw2 Body weight QTL2 qtl DOID:9970 obesity IDA D RGD:619690|PMID:11087657 19990101 RGD 631210 Bw3 Body weight QTL3 qtl DOID:9970 obesity IDA D RGD:619690|PMID:11087657 19990101 RGD 631211 Bw4 Body weight QTL4 qtl DOID:9970 obesity IDA D RGD:619690|PMID:11087657 19990101 RGD 631212 Bw5 Body weight QTL5 qtl DOID:9970 obesity IDA D RGD:619690|PMID:11087657 19990101 RGD 631213 Bw60 Body weight QTL60 qtl DOID:9970 obesity IDA D RGD:619690|PMID:11087657 19990101 RGD 631214 Bw61 Body weight QTL61 qtl DOID:9970 obesity IDA D RGD:619672|PMID:11853145 19990101 RGD 631215 Stl8 Serum triglyceride level QTL 8 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:70852|PMID:10644432 19990101 RGD 631216 Stl9 Serum triglyceride level QTL 9 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:70852|PMID:10644432 19990101 RGD 631217 Activ1 Activity QTL 1 qtl DOID:9002362 Hyperkinesis IDA D RGD:631170|PMID:8944030 19990101 RGD 631219 SDT/Jcl strain DOID:4195 hyperglycemia IAGP D RGD:631173|PMID:12705906 19990101 RGD 631219 SDT/Jcl strain DOID:5327 retinal detachment IAGP D RGD:628479|PMID:11469401 20180125 RGD 631219 SDT/Jcl strain DOID:83 cataract IAGP D RGD:628479|PMID:11469401 19990101 RGD compared to Crj:CD(SD) controls 631219 SDT/Jcl strain DOID:8947 diabetic retinopathy MODEL: spontaneous IAGP D RGD:19165123|PMID:16572493 20200130 RGD develops with age; sexual dimorphism 631219 SDT/Jcl strain DOID:8947 diabetic retinopathy MODEL: spontaneous IAGP D RGD:2312348|PMID:16054135 20140917 RGD develops with age; sexual dimorphism 631219 SDT/Jcl strain DOID:8947 diabetic retinopathy MODEL: spontaneous IAGP D RGD:628479|PMID:11469401 19990101 RGD compared to Crj:CD(SD) controls; age dependent, sexual dimorphism more severe in males 631219 SDT/Jcl strain DOID:9000815 Aortic Calcification induced IAGP XCO:0000018 D RGD:12914778|PMID:28674323 20170712 RGD 631219 SDT/Jcl strain DOID:9351 diabetes mellitus MODEL: spontaneous IAGP D RGD:2298688|PMID:18612083 20081208 RGD compared to F344/NSlc, non-obese 631219 SDT/Jcl strain DOID:9351 diabetes mellitus MODEL: spontaneous IAGP D RGD:628479|PMID:11469401 19990101 RGD compared to Crj:CD(SD) controls; age dependent, sexual dimorphism more severe in males 631219 SDT/Jcl strain DOID:9351 diabetes mellitus MODEL: spontaneous IAGP D RGD:631173|PMID:12705906 19990101 RGD compared to BN/Seac 631260 Tcas2 Tongue tumor susceptibility QTL 2 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:631169|PMID:12448007 19990101 RGD 631261 Tcas3 Tongue tumor susceptibility QTL 3 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:631169|PMID:12448007 19990101 RGD 631262 Tcas4 Tongue tumor susceptibility QTL 4 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:631169|PMID:12448007 19990101 RGD 631263 Cm24 Cardiac mass QTL 24 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:619659|PMID:11157676 19990101 RGD 631264 Scl22 Serum cholesterol level QTL 22 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:61055|PMID:9199194 19990101 RGD 631265 Iresp1 Immunoglobin response QTL1 qtl DOID:1205 allergic disease IDA D RGD:619646|PMID:10898507 19990101 RGD 631266 Bp132 Blood pressure QTL 132 qtl DOID:10763 hypertension IDA D RGD:68910|PMID:10642295 19990101 RGD 631267 Cia20 Collagen induced arthritis QTL 20 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631168|PMID:11003387 19990101 RGD 631268 Cia21 Collagen induced arthritis QTL 21 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631168|PMID:11003387 19990101 RGD 631269 Cia22 Collagen induced arthritis QTL 22 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631168|PMID:11003387 19990101 RGD 631270 Cia23 Collagen induced arthritis QTL 23 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631168|PMID:11003387 19990101 RGD 631271 Lecl1 Lens clarity QTL 1 qtl DOID:83 cataract IDA D RGD:68701|PMID:11252169 20130618 RGD 631271 Lecl1 Lens clarity QTL 1 qtl DOID:9008606 Corneal Opacity IDA D RGD:68701|PMID:11252169 19990101 RGD 631272 Lanf1 Left ventricular atrial natriuretic factor QTL 1 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:619659|PMID:11157676 19990101 RGD 631273 Lecl2 Lens clarity QTL 2 qtl DOID:83 cataract IDA D RGD:68701|PMID:11252169 20130618 RGD 631273 Lecl2 Lens clarity QTL 2 qtl DOID:9008606 Corneal Opacity IDA D RGD:68701|PMID:11252169 19990101 RGD 631274 Sprol1 Serum protein level QTL 1 qtl DOID:0014667 disease of metabolism IAGP D RGD:61055|PMID:9199194 19990101 RGD 631278 SHRSP.WKY-(D2Rat13-D2Rat157)/Gcrc strain DOID:10763 hypertension sexual_dimorphism IAGP D RGD:68910|PMID:10642295 20200415 RGD compared to WKY/Gcrc 631279 SHRSP.WKY-(D2Rat13-D2Mit5)/Gcrc strain DOID:10763 hypertension sexual_dimorphism IAGP D RGD:68910|PMID:10642295 20200415 RGD 631279 SHRSP.WKY-(D2Rat13-D2Mit5)/Gcrc strain DOID:10763 hypertension susceptibility IAGP D RGD:68910|PMID:10642295 20191205 RGD compared to control strain WKY/Gcrc 631280 WKY.SHRSP-(D2Mit5-D2Mgh12)/Gcrc strain DOID:10763 hypertension susceptibility IAGP D RGD:68910|PMID:10642295 20191205 RGD compared to control strain WKY/Gcrc 631282 DA.F344-(D10Arb20-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281 D RGD:631168|PMID:11003387 20200720 RGD 631282 DA.F344-(D10Arb20-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD 631282 DA.F344-(D10Arb20-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD 631283 DA.F344-(D10Arb21-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281 D RGD:631168|PMID:11003387 20200720 RGD 631285 IER/Ihr strain DOID:83 cataract IAGP D RGD:68701|PMID:11252169 19990101 RGD 631286 WKY/Izm Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:1578503|PMID:16239369 20191209 RGD compared to hypertensive strain SHRSP/Izm 631286 WKY/Izm Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:2296063|PMID:16445571 20200107 RGD compared to SHRSP/Izm 631286 WKY/Izm Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:730283|PMID:14623828 20191206 RGD compared to spontaneously hypertensive strain SHRSP/Izm 631286 WKY/Izm Wistar-Kyoto strain DOID:11465 autonomic nervous system disease MODEL: control IAGP XCO:0000307|XCO:0000158 D RGD:4889147|PMID:21063213 20191216 RGD compared to SHRSP/Izm 631286 WKY/Izm Wistar-Kyoto strain DOID:9003968 Stress-Induced Hypertension MODEL: control IAGP XCO:0000307|XCO:0000158 D RGD:4889147|PMID:21063213 20191216 RGD compared to SHRSP/Izm 631294 F344.GK-(D1Arb42a-D1Rat90)/Swe strain DOID:10603 glucose intolerance IAGP D RGD:619677|PMID:10580437 20200429 RGD 631294 F344.GK-(D1Arb42a-D1Rat90)/Swe strain DOID:4195 hyperglycemia IAGP D RGD:619677|PMID:10580437 19990101 RGD 631294 F344.GK-(D1Arb42a-D1Rat90)/Swe strain DOID:9007692 Insulin Resistance IAGP D RGD:619677|PMID:10580437 20200429 RGD 631326 Entpd3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:10283 prostate cancer ISO RGD:1346927 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 631326 Entpd3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:630 genetic disease ISO RGD:1346927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631327 Lzts3 leucine zipper tumor suppressor family member 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 631327 Lzts3 leucine zipper tumor suppressor family member 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 631327 Lzts3 leucine zipper tumor suppressor family member 3 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 631328 Tbkbp1 TBK1 binding protein 1 gene DOID:630 genetic disease ISO RGD:731934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631328 Tbkbp1 TBK1 binding protein 1 gene DOID:7147 ankylosing spondylitis ISO RGD:731934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:1826 epilepsy ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343569 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:3021 acute kidney failure ISO RGD:1343569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:5844 myocardial infarction ISO RGD:1343569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20082609 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:630 genetic disease ISO RGD:1343569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631329 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631330 Whrn whirlin gene DOID:0050439 Usher syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 631330 Whrn whirlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1349509 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 631330 Whrn whirlin gene DOID:0050630 Aland Island eye disease ISO RGD:1349509 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:28492532|PMID:30718709 631330 Whrn whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:7240710 20130221 OMIM 631330 Whrn whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF PMID:11973626|PMID:12833159|PMID:15841483|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31541171|PMID:9536098 631330 Whrn whirlin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 631330 Whrn whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:7240710 20130221 OMIM 631330 Whrn whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D PMID:12833159|PMID:15841483|PMID:17171570|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:9536098 631330 Whrn whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1553310 D RGD:1580603|PMID:12833159 19990101 RGD 631330 Whrn whirlin gene DOID:630 genetic disease ISO RGD:1349509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 631330 Whrn whirlin gene DOID:8501 fundus dystrophy ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:27208204|PMID:28492532 631330 Whrn whirlin gene DOID:9004538 Hearing Loss ISO RGD:1349509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:20352026|PMID:22135276|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 631330 Whrn whirlin gene DOID:9008681 Deafness ISO RGD:1349509 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 631331 Fcgr2b Fc gamma receptor 2B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 631331 Fcgr2b Fc gamma receptor 2B gene DOID:0080162 lupus nephritis ISO RGD:1332447 D RGD:7240529|PMID:15681388 20130213 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 631331 Fcgr2b Fc gamma receptor 2B gene DOID:1037 lymphoid leukemia treatment ISO RGD:1346227 D RGD:11344969|PMID:20705761 20160711 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:1227 neutropenia ISO RGD:1346227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 631331 Fcgr2b Fc gamma receptor 2B gene DOID:12365 malaria ISO RGD:1346227 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 631331 Fcgr2b Fc gamma receptor 2B gene DOID:12365 malaria ISO RGD:1346227 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:12115230|PMID:15459183|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 631331 Fcgr2b Fc gamma receptor 2B gene DOID:12365 malaria susceptibility ISO RGD:1346227 D RGD:7240710 20190502 OMIM 631331 Fcgr2b Fc gamma receptor 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1346227 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631331 Fcgr2b Fc gamma receptor 2B gene DOID:1936 atherosclerosis ISO RGD:1332447 D RGD:7240526|PMID:17053192 20130213 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:2237 hepatitis severity ISO RGD:1332447 D RGD:11344954|PMID:17322382 20160711 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:2841 asthma ISO RGD:1332447 D RGD:11344929|PMID:20179765 20160708 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:2921 glomerulonephritis ISO RGD:1346227 D RGD:5508403|PMID:19640933 20130215 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:417 autoimmune disease ISO RGD:1332447 D RGD:7240525|PMID:18390752 20130213 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:417 autoimmune disease ISO RGD:1346227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 631331 Fcgr2b Fc gamma receptor 2B gene DOID:630 genetic disease ISO RGD:1346227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631331 Fcgr2b Fc gamma receptor 2B gene DOID:783 end stage renal disease ISO RGD:1346227 D RGD:7240530|PMID:15266033 20130214 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346227 D RGD:11344927|PMID:19549396 20160708 RGD DNA:SNP: :p.I232T (human) 631331 Fcgr2b Fc gamma receptor 2B gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:1346227 D RGD:11344928|PMID:15566359 20160708 RGD DNA:SNP: :p.I232T (human) 631331 Fcgr2b Fc gamma receptor 2B gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:11344931|PMID:22257295 20160708 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:11344955|PMID:21045192 20160711 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1346227 D RGD:11040933|PMID:21131591 20160317 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9002457 Experimental Arthritis ISO RGD:1332447 D RGD:11344930|PMID:23341540 20160708 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9004610 Acute Lung Injury treatment IMP D RGD:5147925|PMID:19106808 20141031 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9007398 Phospholipidosis IEP D RGD:11344961|PMID:25580480 20160711 RGD mRNA:increased expression:heart, blood 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus ISO RGD:1346227 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus ISO RGD:1346227 D RGD:7240540|PMID:19502269 20130215 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:12115230|PMID:15459183|PMID:15895258|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1346227 D RGD:11056171|PMID:26084639 20160711 RGD DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human) 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346227 D RGD:11056171|PMID:26084639 20160711 RGD DNA:SNP:intron:11045G>T (rs12117530) (human) 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346227 D RGD:1547879|PMID:15153543 19990101 RGD DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human) 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346227 D RGD:1547880|PMID:15895258 19990101 RGD DNA:snp:promoter:g.-386G>C (rs3219018) (human) 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346227 D RGD:7240710 20230505 OMIM 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1332447 D RGD:9588566|PMID:18156625 20141030 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1332447 D RGD:9588603|PMID:20530521 20141031 RGD 631331 Fcgr2b Fc gamma receptor 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346227 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736716 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency PMID:15167691|PMID:16378243|PMID:17905754|PMID:18181017|PMID:18339632|PMID:18347598|PMID:18444257|PMID:19319927|PMID:19588223|PMID:22915309|PMID:25741868|PMID:28492532 631332 Tph2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15768392 631332 Tph2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:5686360|PMID:15768392 20120119 RGD DNA:SNPs:introns 631332 Tph2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder no_association ISO RGD:736716 D RGD:5686361|PMID:16958027 20120119 RGD DNA:SNPs: :rs4341581, rs11179000 (human) 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder ISO RGD:736716 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Major depressive disorder PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:736716 D RGD:7240710 20230505 OMIM 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1595 melancholic depression ISS RGD:736716 D RGD:13592920 20180518 MouseDO OMIM:608516 631332 Tph2 tryptophan hydroxylase 2 gene DOID:1596 depressive disorder ISO RGD:736716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17950541 631332 Tph2 tryptophan hydroxylase 2 gene DOID:3312 bipolar disorder ISO RGD:736716 D RGD:5686358|PMID:16240163 20120119 RGD mRNA:increased expression:frontal association cortex 631332 Tph2 tryptophan hydroxylase 2 gene DOID:3312 bipolar disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder, susceptibility to PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 631332 Tph2 tryptophan hydroxylase 2 gene DOID:594 panic disorder susceptibility ISO RGD:736716 D RGD:5686356|PMID:17123728 20120119 RGD DNA:SNP:intron: (rs1386494) (human) 631332 Tph2 tryptophan hydroxylase 2 gene DOID:630 genetic disease ISO RGD:736716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631332 Tph2 tryptophan hydroxylase 2 gene DOID:6432 pulmonary hypertension severity ISO RGD:1332580 D RGD:5686352|PMID:17675372 20120119 RGD DNA:SNP: :1473C>G (mouse) 631332 Tph2 tryptophan hydroxylase 2 gene DOID:9000972 Fever ISO RGD:736716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20722968 631332 Tph2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 ISO RGD:736716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder, susceptibility to, 7 PMID:19319927|PMID:25741868 631332 Tph2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 susceptibility ISO RGD:736716 D RGD:7240710 20220720 OMIM 631333 Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:2717 Bloom syndrome ISO RGD:1344597 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 631333 Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:630 genetic disease ISO RGD:1344597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631333 Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:9256 colorectal cancer ISO RGD:1344597 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 631334 Nup58 nucleoporin 58 gene DOID:630 genetic disease ISO RGD:1353907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:12930 dilated cardiomyopathy ISO RGD:737583 D RGD:1580779|PMID:15345656 20161128 RGD 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:1540 parathyroid carcinoma ISO RGD:737583 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:630 genetic disease ISO RGD:737583 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:28492532 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 1 PMID:16199547|PMID:28492532|PMID:34957489 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis susceptibility ISO RGD:737583 D RGD:7240710 20230215 OMIM 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9007661 Dwarfism ISO RGD:737583 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 631335 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737583 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:13378 Kawasaki disease ISO RGD:1345351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:2340 craniosynostosis ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:3362 coronary aneurysm ISO RGD:1345351 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:630 genetic disease ISO RGD:1345351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345351 D RGD:152995405|PMID:33470690 20220617 RGD DNA:SNP:intron: (rs2607420) (human) 631336 Itpkc inositol-trisphosphate 3-kinase C gene DOID:9269 maple syrup urine disease ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 631337 Rwdd1 RWD domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:732573 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 631337 Rwdd1 RWD domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:732573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 631337 Rwdd1 RWD domain containing 1 gene DOID:1059 intellectual disability ISO RGD:732573 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 631337 Rwdd1 RWD domain containing 1 gene DOID:10907 microcephaly ISO RGD:732573 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 631337 Rwdd1 RWD domain containing 1 gene DOID:1826 epilepsy ISO RGD:732573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 631337 Rwdd1 RWD domain containing 1 gene DOID:630 genetic disease ISO RGD:732573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631337 Rwdd1 RWD domain containing 1 gene DOID:9000495 Tremor ISO RGD:732573 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 631338 Rcan1 regulator of calcineurin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 631338 Rcan1 regulator of calcineurin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735348 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 631338 Rcan1 regulator of calcineurin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 631338 Rcan1 regulator of calcineurin 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:735348 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 631338 Rcan1 regulator of calcineurin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735348 D RGD:1580889|PMID:11483593 19990101 RGD 631338 Rcan1 regulator of calcineurin 1 gene DOID:12858 Huntington's disease ISO RGD:735348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270310 631338 Rcan1 regulator of calcineurin 1 gene DOID:14250 Down syndrome ISO RGD:735348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 631338 Rcan1 regulator of calcineurin 1 gene DOID:1588 thrombocytopenia ISO RGD:735348 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 631338 Rcan1 regulator of calcineurin 1 gene DOID:1682 congenital heart disease ISO RGD:735348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 631338 Rcan1 regulator of calcineurin 1 gene DOID:630 genetic disease ISO RGD:735348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631338 Rcan1 regulator of calcineurin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735348 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 631338 Rcan1 regulator of calcineurin 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 631338 Rcan1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly IDA D RGD:625605|PMID:12124198 19990101 RGD 631338 Rcan1 regulator of calcineurin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735348 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:1459 hypothyroidism IEP D RGD:2314536|PMID:15817667 20091119 RGD mRNA:decreased expression:multiple organs 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346467 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:630 genetic disease ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346467 D RGD:155791679|PMID:29059470 20230105 RGD mRNA, protein:increased expression:liver (human) 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1553789 D RGD:155791679|PMID:29059470 20230105 RGD 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1346467 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868|PMID:28492532 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:7240710 20130221 OMIM 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder PMID:18834968|PMID:25741868|PMID:28492532|PMID:30089812 631339 Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1346467 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:10892 hypospadias ISO RGD:733231 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20442744 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733231 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autistic behavior 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:733231 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:3307 teratoma ISO RGD:733231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733231 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:733231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631340 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25940438 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:7240710 20140911 OMIM 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 PMID:12548288|PMID:17041891|PMID:19843503|PMID:20158590|PMID:24033266|PMID:25741868|PMID:25949529|PMID:27225848|PMID:28492532|PMID:29345414|PMID:30369044|PMID:30387913|PMID:31064749|PMID:31898847|PMID:32581362|PMID:32725903|PMID:32830442|PMID:33878481|PMID:35054407 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27593200|PMID:28492532|PMID:30387913 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2213 hemorrhagic disease ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2223 platelet storage pool deficiency ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868|PMID:28492532|PMID:31064749 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:11073544|PMID:19843503 20160728 RGD DNA:mutations:multiple: 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:632833|PMID:12548288 20070207 RGD 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:17041891|PMID:19843503|PMID:24033266|PMID:25741868|PMID:26575419|PMID:27225848|PMID:28492532|PMID:29345414|PMID:31064749|PMID:35054407 631341 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:630 genetic disease ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 631342 Sytl5 synaptotagmin-like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736279 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 631342 Sytl5 synaptotagmin-like 5 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:736279 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 631342 Sytl5 synaptotagmin-like 5 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:736279 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 631342 Sytl5 synaptotagmin-like 5 gene DOID:12849 autistic disorder ISO RGD:736279 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631342 Sytl5 synaptotagmin-like 5 gene DOID:630 genetic disease ISO RGD:736279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631342 Sytl5 synaptotagmin-like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736279 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631342 Sytl5 synaptotagmin-like 5 gene DOID:9007661 Dwarfism ISO RGD:736279 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 631342 Sytl5 synaptotagmin-like 5 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736279 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 631342 Sytl5 synaptotagmin-like 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:736157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0050788 proximal symphalangism ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736157 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1332354 D RGD:19165131|PMID:29505790 20200131 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10431236|PMID:11476965 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:1298571|PMID:10431236 20150113 RGD DNA:mutations: : 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:7240710 20180802 OMIM 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476965|PMID:11940086|PMID:12009425|PMID:12054535|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23087442|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:34906502|PMID:35460704|PMID:7945562 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:736157 D RGD:1300323|PMID:15024730 19990101 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10787 premature menopause IEP D RGD:19165129|PMID:24619822 20200131 RGD mRNA:increased expression:liver, jejunum (rat) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10976 membranous glomerulonephritis IEP D RGD:1598547|PMID:12507911 20061204 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:1598533|PMID:17026988 20061202 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia treatment IEP D RGD:21408557|PMID:23185768 20200313 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736157 D RGD:21203516|PMID:28660384 20200304 RGD mRNA:increased expression:liver (human) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:13619 extrahepatic cholestasis IEP D RGD:21203516|PMID:28660384 20200304 RGD mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1387 hypolipoproteinemia ISO RGD:736157 D RGD:1600951|PMID:11086027 20070402 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:1332354 D RGD:19165130|PMID:15841208 20200131 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10431236|PMID:11476965|PMID:17710129 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:1298571|PMID:10431236 19990101 RGD DNA:mutations: : 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:1600951|PMID:11086027 20070402 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:7240710 20130221 OMIM 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease PMID:10431236|PMID:10431237|PMID:10535983|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476961|PMID:11476965|PMID:11940086|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12702168|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:35460704 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1936 atherosclerosis ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3393 coronary artery disease ISO RGD:736157 D RGD:1331525|PMID:15118671 19990101 GAD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3393 coronary artery disease ISO RGD:736157 D RGD:1600951|PMID:11086027 20070402 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3459 breast carcinoma ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3571 liver cancer severity ISO RGD:1332354 D RGD:24922199|PMID:30580964 20200326 RGD mRNA:decreased expression:liver (mouse) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:574 peripheral nervous system disease ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:630 genetic disease ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:1598532|PMID:16941710 20061202 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1332354|RGD:736157 D RGD:24922199|PMID:30580964 20200326 RGD mRNA:decreased expression:liver (human) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000528 Coronary Disease ISO RGD:736157 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Coronary heart disease in familial hypercholesterolemia, protection against | ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:11238261|PMID:12624133|PMID:16372134|PMID:16429166|PMID:25741868|PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia IEP D RGD:19165129|PMID:24619822 20200131 RGD mRNA:increased expression:liver, jejunum (rat) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:736157 D RGD:1331525|PMID:15118671 19990101 GAD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:11554173 20180807 CTD CTD Direct Evidence: marker/mechanism 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002189 High Myopia ISO RGD:736157 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:28492532 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736157 D RGD:21066337|PMID:28164591 20200313 RGD DNA:SNP:introns:(rs3890182, rs1883025) (human) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9005369 Hepatomegaly ISO RGD:1332354 D RGD:21408550|PMID:25217640 20200312 RGD protein:increased expression:hippocampus (mouse) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736157 D RGD:1601092|PMID:17287470 20070405 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736157 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:736157 D RGD:2312576|PMID:18003760 20090821 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease IEP D RGD:1598534|PMID:15995177 20061202 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease treatment ISO RGD:1332354 D RGD:18936993|PMID:30130150 20200312 RGD associated with adult growth hormone deficiency 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9452 fatty liver disease treatment ISO RGD:1332354 D RGD:21408552|PMID:26362727 20200312 RGD 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity disease_progression IEP D RGD:15045599|PMID:25612518 20191218 RGD mRNA:increased expression:liver (rat) 631344 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity susceptibility ISO RGD:736157 D RGD:1601092|PMID:17287470 20070405 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:0050700 cardiomyopathy ISO RGD:1352615 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352615 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:12466 secondary hyperparathyroidism treatment IEP D RGD:13450940|PMID:27988213 20171114 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout ISO RGD:1352615 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:21821808|PMID:31578528 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout ISO RGD:1352615 D RGD:7240710 20181003 OMIM 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout ISO RGD:1352615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1 PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22246505|PMID:22246507|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:25741868|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:13189 gout susceptibility ISO RGD:1352615 D RGD:13439747|PMID:19506252 20171017 RGD DNA:SNP:exon:rs2231142(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:13250 diarrhea ISO RGD:1352615 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:13270 erythropoietic protoporphyria ISS RGD:1551496 D RGD:13592920 20180518 MouseDO OMIM:177000 | OMIM:300752 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:1824 status epilepticus IEP D RGD:2315587|PMID:16190927 20100105 RGD protein:increased expression:brain, astrocyte 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:1920 hyperuricemia ISO RGD:1352615 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:21821808 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:3459 breast carcinoma ISO RGD:1352615 D RGD:2315568|PMID:11948115 20100104 RGD protein:decreased expression:breast 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:1352615 D RGD:11081146|PMID:17938643 20160526 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :421C>A(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1352615 D RGD:2315569|PMID:15906349 20100104 RGD DNA:polymorphism: :p.Q141K (human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352615 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352615 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:20019844 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352615 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:6000 congestive heart failure ISO RGD:1352615 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1352615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:657 adenoma ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21544799 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:707 B-cell lymphoma susceptibility ISO RGD:1352615 D RGD:11080977|PMID:21918980 20160520 RGD DNA:SNP: :rs6857600(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1352615 D RGD:11081180|PMID:26250462 20160531 RGD DNA:SNP,haplotype: :C>A421(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:11081178|PMID:24581936 20160531 RGD DNA:SNP: :421C>A(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:11081181|PMID:24123600 20160531 RGD DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:863 nervous system disease ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1352615 D RGD:11081147|PMID:21640380 20160526 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352615 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:1352615 D RGD:11080977|PMID:21918980 20160520 RGD DNA:SNPs,haplotype: :rs1481012,rs2231142(human) 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:2315573|PMID:19152228 20100105 RGD mRNA:decreased expression:small intestine 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352615 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2315580|PMID:18451542 20100105 RGD mRNA, protein:increased expression, altered localization:small intestine 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22767648 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2315584|PMID:17915193 20100105 RGD protein:decreased expression:cerebral cortex 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352615 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:32387182 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21544799|PMID:22294766 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9008691 Liver Injury IEP D RGD:1304394|PMID:12819005 20160609 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10930538 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352615 D RGD:11081145|PMID:26512967 20160526 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352615 D RGD:11099971|PMID:12145683 20160609 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9351 diabetes mellitus IEP D RGD:13439745|PMID:28679589 20171017 RGD protein:increased expression:kidney 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:14700811|PMID:25152023 20190820 RGD mRNA:decreased expression:liver 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9538 multiple myeloma treatment ISO RGD:1352615 D RGD:11081075|PMID:26314844 20160525 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9538 multiple myeloma treatment ISO RGD:1352615 D RGD:11081144|PMID:16917002 20160526 RGD 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352615 D RGD:11081143|PMID:12100141 20160526 RGD mRNA:increased expression:mononuclear cell: 631345 Abcg2 ATP binding cassette subfamily G member 2 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1352615 D RGD:11081076|PMID:15521915 20160525 RGD 631346 Trim50 tripartite motif-containing 50 gene DOID:0060041 autism spectrum disorder ISO RGD:735660 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 631346 Trim50 tripartite motif-containing 50 gene DOID:10923 sickle cell anemia ISO RGD:735660 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 631346 Trim50 tripartite motif-containing 50 gene DOID:12849 autistic disorder ISO RGD:735660 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631346 Trim50 tripartite motif-containing 50 gene DOID:1928 Williams-Beuren syndrome ISO RGD:735660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 631346 Trim50 tripartite motif-containing 50 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735660 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 631346 Trim50 tripartite motif-containing 50 gene DOID:5419 schizophrenia ISO RGD:735660 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 631346 Trim50 tripartite motif-containing 50 gene DOID:630 genetic disease ISO RGD:735660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631346 Trim50 tripartite motif-containing 50 gene DOID:8445 intestinal volvulus ISO RGD:735660 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 631346 Trim50 tripartite motif-containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735660 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631346 Trim50 tripartite motif-containing 50 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735660 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 631347 Myocd myocardin gene DOID:0060224 atrial fibrillation ISO RGD:1344327 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 631347 Myocd myocardin gene DOID:0060889 prune belly syndrome ISO RGD:1344327 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:31513549 631347 Myocd myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:7240710 20200101 OMIM 631347 Myocd myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megabladder, congenital PMID:25741868|PMID:31513549 631347 Myocd myocardin gene DOID:10283 prostate cancer ISO RGD:1344327 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 631347 Myocd myocardin gene DOID:12930 dilated cardiomyopathy ISS RGD:1614957 D RGD:13592920 20180518 MouseDO 631347 Myocd myocardin gene DOID:13832 patent ductus arteriosus ISS RGD:1614957 D RGD:13592920 20180518 MouseDO OMIM:607411 631347 Myocd myocardin gene DOID:1826 epilepsy ISO RGD:1344327 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 631347 Myocd myocardin gene DOID:630 genetic disease ISO RGD:1344327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 631347 Myocd myocardin gene DOID:9003936 Cardiomegaly ISO RGD:1344327 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16556869 631348 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:630 genetic disease ISO RGD:736504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16757948|PMID:26795593|PMID:28492532|PMID:31079900|PMID:9421497 631348 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:7240710 20221214 OMIM 631348 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities PMID:16757948|PMID:26795593|PMID:31079900|PMID:9421497 631348 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 631348 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9008939 Breast Neoplasms ISO RGD:736504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 631349 Eddm3b epididymal protein 3B gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 631349 Eddm3b epididymal protein 3B gene DOID:630 genetic disease ISO RGD:1344731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631349 Eddm3b epididymal protein 3B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 631350 Neurog3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:7240710 20130221 OMIM 631350 Neurog3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 PMID:16855267|PMID:24033266|PMID:25741868|PMID:26541772|PMID:28492532|PMID:31178402|PMID:31805014 631350 Neurog3 neurogenin 3 gene DOID:10603 glucose intolerance susceptibility ISO RGD:1344822 D RGD:1601481|PMID:15277395 20070831 RGD DNA:polymorphism:cds:p.S199F 631350 Neurog3 neurogenin 3 gene DOID:4195 hyperglycemia ISO RGD:1344822 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:16855267|PMID:21378176|PMID:21490072|PMID:27533310|PMID:28940958|PMID:31178402|PMID:31805014 631350 Neurog3 neurogenin 3 gene DOID:4195 hyperglycemia ISO RGD:1552201 D RGD:1642077|PMID:17239820 20070831 RGD associated with Diabetes Mellitus, Experimental 631350 Neurog3 neurogenin 3 gene DOID:630 genetic disease ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631350 Neurog3 neurogenin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552201 D RGD:2313774|PMID:19819964 20091014 RGD 631350 Neurog3 neurogenin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344822 D RGD:2313775|PMID:17146417 20091014 RGD 631351 Tlr5 toll-like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1331979 D RGD:5129510|PMID:17982089 20110401 RGD 631351 Tlr5 toll-like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 631351 Tlr5 toll-like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:5129477|PMID:14623910 20110330 RGD DNA:nonsense mutation:cds:p.R392X (human) 631351 Tlr5 toll-like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:7240710 20230517 OMIM 631351 Tlr5 toll-like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Legionnaire disease, susceptibility to PMID:14623910|PMID:16027372|PMID:23447684 631351 Tlr5 toll-like receptor 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1331979 D RGD:5129557|PMID:12763043 20110404 RGD mRNA:decreased expression:lung (mouse) 631351 Tlr5 toll-like receptor 5 gene DOID:1485 cystic fibrosis ISO RGD:1348706 D RGD:5129506|PMID:18684966 20110401 RGD protein:increased expression:lung, sputum, neutrophil (human) 631351 Tlr5 toll-like receptor 5 gene DOID:1485 cystic fibrosis resistance ISO RGD:1348706 D RGD:5129499|PMID:21068401 20110401 RGD DNA:snp:cds:c.1174C>T rs5744168 (human) 631351 Tlr5 toll-like receptor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1348706 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631351 Tlr5 toll-like receptor 5 gene DOID:1679 cystitis severity ISO RGD:1348706 D RGD:7246906|PMID:19543401 20130621 RGD DNA:nonsense mutation:cds:p.R392X (human) 631351 Tlr5 toll-like receptor 5 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1331979 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 631351 Tlr5 toll-like receptor 5 gene DOID:3265 chronic granulomatous disease ISO RGD:1348706 D RGD:5130865|PMID:18155283 20110413 RGD protein:decreased expression:blood, neutrophil (human) 631351 Tlr5 toll-like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 631351 Tlr5 toll-like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:5129511|PMID:17676990 20110401 RGD mRNA:increased expression:blood, monocyte, granulocyte (human) 631351 Tlr5 toll-like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:7240710 20230517 OMIM 631351 Tlr5 toll-like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Melioidosis, resistance to PMID:14623910|PMID:16027372|PMID:23447684 631351 Tlr5 toll-like receptor 5 gene DOID:630 genetic disease ISO RGD:1348706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631351 Tlr5 toll-like receptor 5 gene DOID:7147 ankylosing spondylitis ISO RGD:1348706 D RGD:7794744|PMID:20952467 20140109 RGD mRNA:increased expression:blood cell: 631351 Tlr5 toll-like receptor 5 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20110331 RGD mRNA:decreased expression:ileum (rat) 631351 Tlr5 toll-like receptor 5 gene DOID:874 bacterial pneumonia ISO RGD:1331979 D RGD:5129503|PMID:19801452 20110401 RGD 631351 Tlr5 toll-like receptor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348706 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 631351 Tlr5 toll-like receptor 5 gene DOID:9003321 Bacterial Keratitis ISO RGD:1331979 D RGD:8662876|PMID:23033384 20140626 RGD associated with Serratia Infections; 631351 Tlr5 toll-like receptor 5 gene DOID:9005099 Salmonella Infections, Animal IEP D RGD:5129497|PMID:20529359 20110331 RGD mRNA, protein:increased expression:jejunum, colon (rat) 631351 Tlr5 toll-like receptor 5 gene DOID:9005873 Tongue Neoplasms ISO RGD:1348706 D RGD:7814374|PMID:23287987 20140121 RGD protein:increased expression:tongue: 631351 Tlr5 toll-like receptor 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1348706 D RGD:4142862|PMID:19258923 20110401 RGD DNA:snp:cds:p.F616L rs5744174 (human) 631351 Tlr5 toll-like receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348706 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 631351 Tlr5 toll-like receptor 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:1331979 D RGD:5129679|PMID:20566829 20110405 RGD 631351 Tlr5 toll-like receptor 5 gene DOID:9008972 Hyperammonemia ISO RGD:1348706 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 631351 Tlr5 toll-like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 631351 Tlr5 toll-like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:7240710 20230517 OMIM 631351 Tlr5 toll-like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 PMID:14623910|PMID:16027372|PMID:23447684 631351 Tlr5 toll-like receptor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348706 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631352 Tlr9 toll-like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:5130708|PMID:18416964 20110411 RGD Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:5130870|PMID:17283572 20110413 RGD Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1549988 D RGD:7794851|PMID:17686871 20140114 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:7246884|PMID:20497632 20130619 RGD DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) 631352 Tlr9 toll-like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:7246896|PMID:19578108 20130620 RGD protein:increased expression:renal glomerulus (human) 631352 Tlr9 toll-like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1549988 D RGD:7245987|PMID:23467932 20130618 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:0080162 lupus nephritis no_association ISO RGD:1346715 D RGD:7245989|PMID:22787315 20130619 RGD associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) 631352 Tlr9 toll-like receptor 9 gene DOID:0080162 lupus nephritis severity ISO RGD:1549988 D RGD:7246911|PMID:17469139 20130621 RGD mRNA, protein:increased expression:kidney (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:0080162 lupus nephritis treatment ISO RGD:1549988 D RGD:7246897|PMID:21127878 20130620 RGD associated with Graft vs Host Disease 631352 Tlr9 toll-like receptor 9 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1549988|RGD:1346715 D RGD:18337289|PMID:28687713 20200122 RGD mRNA:increased expression:liver (human, mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:0080547 non-alcoholic steatohepatitis disease_progression ISO RGD:1549988 D RGD:18337469|PMID:24650018 20200122 RGD mRNA, protein:increased expression:serum, liver (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 631352 Tlr9 toll-like receptor 9 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:5130184|PMID:18376319 20110407 RGD mRNA, protein:increased expression:pancreas (rat) 631352 Tlr9 toll-like receptor 9 gene DOID:10113 trypanosomiasis ISO RGD:1549988 D RGD:18337478|PMID:18565585 20200122 RGD mRNA:increased expression:liver (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:10223 dermatomyositis ISO RGD:1346715 D RGD:7794747|PMID:19953283 20140109 RGD mRNA,protein:increased expression:muscle 631352 Tlr9 toll-like receptor 9 gene DOID:10457 Legionnaires' disease ISO RGD:1549988 D RGD:5130707|PMID:18426877 20110411 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:10533 viral pneumonia ISO RGD:1346715 D RGD:5130766|PMID:19539691 20110412 RGD DNA:snp:promoter:g.-1237T>C rs5743836 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:10690 mastitis resistance IEP D RGD:5130197|PMID:17321466 20110407 RGD mRNA:increased expression:mammary gland (rat) 631352 Tlr9 toll-like receptor 9 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1346715 D RGD:5129102|PMID:20473890 20110323 RGD mRNA:increased expression:cervix epithelium (human) 631352 Tlr9 toll-like receptor 9 gene DOID:11168 anogenital venereal wart ISO RGD:1346715 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 631352 Tlr9 toll-like receptor 9 gene DOID:11204 allergic conjunctivitis ISO RGD:1346715 D RGD:7794849|PMID:16023216 20140114 RGD mRNA,protein:decreased expression:conjunctiva: 631352 Tlr9 toll-like receptor 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1549988 D RGD:5130709|PMID:17925007 20110411 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1346715 D RGD:18337477|PMID:23026026 20200122 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:1287 cardiovascular system disease ISO RGD:1346715 D RGD:7246901|PMID:20604744 20130620 RGD associated with kidney transplant; DNA:snp:promoter:g.-1237C>T rs5743836 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:13139 crescentic glomerulonephritis severity ISO RGD:1549988 D RGD:7246899|PMID:20847283 20130620 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1549988 D RGD:5130858|PMID:18936185 20110413 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1346715 D RGD:5130863|PMID:18275280 20110413 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346715 D RGD:5130706|PMID:18433921 20110411 RGD protein:increased expression:blood, neutrophil (human) 631352 Tlr9 toll-like receptor 9 gene DOID:1485 cystic fibrosis ISO RGD:1346715 D RGD:5130208|PMID:20837493 20110408 RGD DNA:snps:multiple (human) 631352 Tlr9 toll-like receptor 9 gene DOID:1612 breast cancer ISO RGD:1346715 D RGD:7246913|PMID:18922969 20130621 RGD protein:increased expression:breast, epithelial cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1346715 D RGD:2301099|PMID:17440926 20080926 RGD invasive squamous cell carcinoma of the cervix 631352 Tlr9 toll-like receptor 9 gene DOID:1883 hepatitis C ISO RGD:1346715 D RGD:18337479|PMID:27184185 20200122 RGD associated with psoriasis;mRNA:increased expession:skin (human) 631352 Tlr9 toll-like receptor 9 gene DOID:1883 hepatitis C susceptibility ISO RGD:1346715 D RGD:18337466|PMID:28062211 20200122 RGD associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2043 hepatitis B susceptibility ISO RGD:1346715 D RGD:18337480|PMID:25388852 20200122 RGD DNA:SNP:exon:2848G>A (rs352140) (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1346715 D RGD:5130722|PMID:20227302 20110411 RGD DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2841 asthma ISO RGD:1549988 D RGD:5129104|PMID:20016192 20110323 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:2841 asthma no_association ISO RGD:1346715 D RGD:5130712|PMID:21324137 20110411 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2841 asthma severity ISO RGD:1346715 D RGD:4889523|PMID:20072849 20110323 RGD protein:increased expression:peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2841 asthma susceptibility ISO RGD:1346715 D RGD:4144208|PMID:18312481 20110405 RGD DNA:snp:promoter:g.-1237T>C rs5743836 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1549988 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:1346715 D RGD:5130704|PMID:19771452 20110408 RGD DNA:snps:multiple (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:1549988 D RGD:7246893|PMID:21621468 20130620 RGD associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1346715 D RGD:7246889|PMID:18776126 20130619 RGD DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) 631352 Tlr9 toll-like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1549988 D RGD:7246889|PMID:18776126 20130619 RGD DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1549988 D RGD:7246893|PMID:21621468 20130620 RGD associated with Graft vs Host Disease 631352 Tlr9 toll-like receptor 9 gene DOID:3021 acute kidney failure ISO RGD:1549988 D RGD:7245966|PMID:23548820 20130617 RGD associated with Sepsis 631352 Tlr9 toll-like receptor 9 gene DOID:3082 interstitial lung disease ISO RGD:1346715 D RGD:5130206|PMID:18633634 20110408 RGD mRNA, protein:increased expression:lung (human) 631352 Tlr9 toll-like receptor 9 gene DOID:3265 chronic granulomatous disease ISO RGD:1346715 D RGD:5130865|PMID:18155283 20110413 RGD protein:decreased expression:blood, neutrophil (human) 631352 Tlr9 toll-like receptor 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1346715 D RGD:5130206|PMID:18633634 20110408 RGD mRNA:increased expression:lung (human) 631352 Tlr9 toll-like receptor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346715 D RGD:5130185|PMID:15631627 20110407 RGD mRNA, protein:increased expression:tumor (human) 631352 Tlr9 toll-like receptor 9 gene DOID:4450 renal cell carcinoma severity ISO RGD:1346715 D RGD:7246915|PMID:21929816 20130621 RGD protein:decreased expression:tumor, cytoplasm (human) 631352 Tlr9 toll-like receptor 9 gene DOID:4481 allergic rhinitis ISO RGD:1346715 D RGD:7800740|PMID:22577387 20140121 RGD protein:decreased expression:nasal mucosa: 631352 Tlr9 toll-like receptor 9 gene DOID:5199 ureteral obstruction ISO RGD:1549988 D RGD:7246895|PMID:21544241 20130620 RGD mRNA:increased expression:kidney (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:576 proteinuria ISO RGD:1346715 D RGD:7245989|PMID:22787315 20130618 RGD associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:576 proteinuria ISO RGD:1549988 D RGD:7245987|PMID:23467932 20130618 RGD associated with Lupus Erythematosus, Systemic 631352 Tlr9 toll-like receptor 9 gene DOID:630 genetic disease ISO RGD:1346715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631352 Tlr9 toll-like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 631352 Tlr9 toll-like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:18337472|PMID:18215354 20200122 RGD protein: increased expression:peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346715 D RGD:18337468|PMID:24452201 20200122 RGD human cells in a mouse model 631352 Tlr9 toll-like receptor 9 gene DOID:784 chronic kidney disease susceptibility ISS RGD:1346715 D RGD:7246887|PMID:21908957 20130619 RGD DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese) 631352 Tlr9 toll-like receptor 9 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20110331 RGD mRNA:increased expression:ileum (rat) 631352 Tlr9 toll-like receptor 9 gene DOID:874 bacterial pneumonia ISO RGD:1549988 D RGD:5130719|PMID:20360853 20110411 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:8778 Crohn's disease ISO RGD:1346715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15236225|PMID:17914947 631352 Tlr9 toll-like receptor 9 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1346715 D RGD:2301099|PMID:17440926 20080926 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1549988 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 631352 Tlr9 toll-like receptor 9 gene DOID:9000989 Pneumococcal Infections ISO RGD:1549988 D RGD:5130710|PMID:17004992 20110411 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9000998 Brain Injuries ISO RGD:1346715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 631352 Tlr9 toll-like receptor 9 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1346715 D RGD:7794852|PMID:21848608 20140114 RGD protein:increased expression:gingiva: 631352 Tlr9 toll-like receptor 9 gene DOID:9001295 Achlorhydria ISO RGD:1346715 D RGD:5130741|PMID:20038537 20110412 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1346715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 631352 Tlr9 toll-like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1549988 D RGD:5130186|PMID:17853411 20110407 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1346715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 631352 Tlr9 toll-like receptor 9 gene DOID:9003036 Oral Lichen Planus ISO RGD:1346715 D RGD:7777153|PMID:22672741 20140106 RGD protein:increased expression:oral epithelium: 631352 Tlr9 toll-like receptor 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1346715 D RGD:5130731|PMID:20085599 20110411 RGD DNA:snp:promoter:g.-1486C>T rs187084 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9003615 Granuloma, Foreign-Body ISO RGD:1346715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 631352 Tlr9 toll-like receptor 9 gene DOID:9003828 Klebsiella Infections ISO RGD:1549988 D RGD:5130866|PMID:17785831 20110413 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9003870 Herpes Simplex Encephalitis resistance IEP D RGD:5130178|PMID:20806060 20110407 RGD mRNA:increased expression:cheek (rat) 631352 Tlr9 toll-like receptor 9 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346715 D RGD:18337477|PMID:23026026 20200122 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1346715 D RGD:18337470|PMID:19513613 20200122 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1346715 D RGD:7246885|PMID:22251233 20130619 RGD kidney; DNA:snp:exon:g.+2848G>A rs352140 (human, North Indian) 631352 Tlr9 toll-like receptor 9 gene DOID:9004538 Hearing Loss ISO RGD:1346715 D RGD:7800663|PMID:22662111 20140115 RGD associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) 631352 Tlr9 toll-like receptor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1346715 D RGD:5130705|PMID:18763053 20110408 RGD mRNA, protein:increased expression:tumor (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9005358 Hypergammaglobulinemia ISO RGD:1549988 D RGD:7245987|PMID:23467932 20130618 RGD associated with Lupus Erythematosus, Systemic 631352 Tlr9 toll-like receptor 9 gene DOID:9005372 Inflammation ISO RGD:1346715 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 631352 Tlr9 toll-like receptor 9 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:2312677|PMID:18434754 20090828 RGD mRNA:increased expression:multiple tissues 631352 Tlr9 toll-like receptor 9 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1346715 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:24273604 631352 Tlr9 toll-like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1346715 D RGD:18337465|PMID:26457748 20200122 RGD protein:increased expression: blood, neutrophil (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1549988 D RGD:18337473|PMID:23509352 20200122 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1549988 D RGD:18337476|PMID:19164858 20200122 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:18337464|PMID:24622882 20200122 RGD mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:18337472|PMID:18215354 20200122 RGD protein: increased expression:peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:18337474|PMID:27126946 20200122 RGD protein:increased expression:peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:18337467|PMID:30453064 20200122 RGD DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:18337470|PMID:19513613 20200122 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1346715 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 631352 Tlr9 toll-like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:18337471|PMID:26361210 20200122 RGD associated with Kidney Reperfusion Injury 631352 Tlr9 toll-like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:18337475|PMID:20577143 20200122 RGD associated with Hemorrhagic Shock 631352 Tlr9 toll-like receptor 9 gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:1346715 D RGD:11344971|PMID:23045477 20160711 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9074 systemic lupus erythematosus ISO RGD:1549988 D RGD:7246894|PMID:21592581 20130620 RGD mRNA:increased expression:B lymphocyte (mouse) 631352 Tlr9 toll-like receptor 9 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1549988 D RGD:7245988|PMID:16973389 20130618 RGD 631352 Tlr9 toll-like receptor 9 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346715 D RGD:5130767|PMID:19130296 20110412 RGD DNA:snp:exon:c.1635C>T rs352140 (human) 631352 Tlr9 toll-like receptor 9 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1346715 D RGD:7794748|PMID:20493664 20140109 RGD protein:decreased expression:skin: 631353 Sharpin SHANK-associated RH domain interactor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 631353 Sharpin SHANK-associated RH domain interactor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 631353 Sharpin SHANK-associated RH domain interactor gene DOID:2723 dermatitis ISO RGD:1603608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 631353 Sharpin SHANK-associated RH domain interactor gene DOID:3310 atopic dermatitis ISS RGD:1549996 D RGD:13592920 20180518 MouseDO OMIM:603165 631353 Sharpin SHANK-associated RH domain interactor gene DOID:4621 holoprosencephaly ISO RGD:1603608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 631353 Sharpin SHANK-associated RH domain interactor gene DOID:630 genetic disease ISO RGD:1603608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631353 Sharpin SHANK-associated RH domain interactor gene DOID:9001371 Eosinophilia ISO RGD:1603608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 631354 Gnl3 G protein nucleolar 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1606313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 631354 Gnl3 G protein nucleolar 3 gene DOID:630 genetic disease ISO RGD:1606313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631355 Tpsg1 tryptase gamma 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 631355 Tpsg1 tryptase gamma 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 631355 Tpsg1 tryptase gamma 1 gene DOID:1826 epilepsy ISO RGD:1344751 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 631355 Tpsg1 tryptase gamma 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344751 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 631355 Tpsg1 tryptase gamma 1 gene DOID:630 genetic disease ISO RGD:1344751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631356 Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2303380|PMID:19129252 20090210 RGD mRNA:increased expression:kidney 631356 Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 gene DOID:9003936 Cardiomegaly EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 631356 Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury EXP D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 631358 Olr1271 olfactory receptor 1271 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 631358 Olr1271 olfactory receptor 1271 gene DOID:5419 schizophrenia ISO RGD:1350153 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 631358 Olr1271 olfactory receptor 1271 gene DOID:630 genetic disease ISO RGD:1350153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631358 Olr1271 olfactory receptor 1271 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350153 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 631358 Olr1271 olfactory receptor 1271 gene DOID:9007661 Dwarfism ISO RGD:1350153 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 631359 Disc1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome ISO RGD:736704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17579608 631359 Disc1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:736704 D RGD:5509836|PMID:18317464 20111108 RGD DNA:SNPs: : 631359 Disc1 DISC1 scaffold protein gene DOID:0070085 schizophrenia 9 susceptibility ISO RGD:736704 D RGD:7240710 20190502 OMIM 631359 Disc1 DISC1 scaffold protein gene DOID:1059 intellectual disability ISO RGD:736704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20002455 631359 Disc1 DISC1 scaffold protein gene DOID:12849 autistic disorder ISO RGD:736704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17579608|PMID:20002455 631359 Disc1 DISC1 scaffold protein gene DOID:12849 autistic disorder ISO RGD:736704 D RGD:5509826|PMID:21569632 20111107 RGD DNA:SNPs: :rs4366301, rs11585959, rs6668845(human) 631359 Disc1 DISC1 scaffold protein gene DOID:12849 autistic disorder ISO RGD:736704 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631359 Disc1 DISC1 scaffold protein gene DOID:12849 autistic disorder susceptibility ISO RGD:736704 D RGD:5509836|PMID:18317464 20111108 RGD DNA:polymorphism:microsatellite: 631359 Disc1 DISC1 scaffold protein gene DOID:1470 major depressive disorder ISO RGD:736704 D RGD:5509834|PMID:15657124 20111107 RGD protein:altered expression:orbitofrontal cortex 631359 Disc1 DISC1 scaffold protein gene DOID:1470 major depressive disorder susceptibility ISO RGD:736704 D RGD:5509832|PMID:16959794 20111107 RGD DNA:SNP:Cds:p.S704C(human) 631359 Disc1 DISC1 scaffold protein gene DOID:1540 parathyroid carcinoma ISO RGD:736704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631359 Disc1 DISC1 scaffold protein gene DOID:1595 melancholic depression ISS RGD:1332081 D RGD:13592920 20180518 MouseDO OMIM:608516 631359 Disc1 DISC1 scaffold protein gene DOID:1596 depressive disorder ISO RGD:736704 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 631359 Disc1 DISC1 scaffold protein gene DOID:2030 anxiety disorder ISO RGD:736704 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 631359 Disc1 DISC1 scaffold protein gene DOID:2468 psychotic disorder ISO RGD:736704 D RGD:5509828|PMID:10814723 20111107 RGD 631359 Disc1 DISC1 scaffold protein gene DOID:2468 psychotic disorder susceptibility ISO RGD:736704 D RGD:5509833|PMID:15386212 20111107 RGD DNA:SNPs: :multiple 631359 Disc1 DISC1 scaffold protein gene DOID:303 substance-related disorder severity ISO RGD:736704 D RGD:5509834|PMID:15657124 20111107 RGD protein:altered expression:orbitofrontal cortex 631359 Disc1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:5509829|PMID:21222298 20111107 RGD DNA;SNPs: :rs2738864,rs16841582 (human) 631359 Disc1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:5509836|PMID:18317464 20111108 RGD DNA:SNPs: :rs1538979, rs821577, rs821633 (human) 631359 Disc1 DISC1 scaffold protein gene DOID:3312 bipolar disorder susceptibility ISO RGD:736704 D RGD:5509833|PMID:15386212 20111107 RGD DNA:SNPs: :multiple 631359 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20531374|PMID:20561508 631359 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:5509828|PMID:10814723 20111107 RGD 631359 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:5509830|PMID:20505556 20111107 RGD DNA:SNP:cds:rs6675281(human) 631359 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:5509834|PMID:15657124 20111107 RGD protein:altered expression:orbitofrontal cortex 631359 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:5509836|PMID:18317464 20111108 RGD DNA:SNPs: :rs1538979, rs821577, rs821633(human) 631359 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia susceptibility ISO RGD:736704 D RGD:5509833|PMID:15386212 20111107 RGD DNA:SNPs: :multiple 631359 Disc1 DISC1 scaffold protein gene DOID:630 genetic disease ISO RGD:736704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631359 Disc1 DISC1 scaffold protein gene DOID:8544 chronic fatigue syndrome susceptibility ISO RGD:736704 D RGD:5509831|PMID:20227423 20111107 RGD DNA:SNP:Cds:p.S704C(human) 631359 Disc1 DISC1 scaffold protein gene DOID:9000641 Pain ISO RGD:736704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 631359 Disc1 DISC1 scaffold protein gene DOID:9002362 Hyperkinesis ISO RGD:736704 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 631359 Disc1 DISC1 scaffold protein gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:736704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 631359 Disc1 DISC1 scaffold protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736704 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631359 Disc1 DISC1 scaffold protein gene DOID:9923 developmental coordination disorder ISO RGD:736704 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0080600 COVID-19 ISO RGD:737609 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:12859 choreatic disease ISO RGD:737609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1825 childhood absence epilepsy ISO RGD:737609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1826 epilepsy ISO RGD:737609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1826 epilepsy ISS RGD:1332210 D RGD:13592920 20180518 MouseDO 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:630 genetic disease ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30410802|PMID:9536098 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9000064 Cardiac Arrhythmias IMP D RGD:13513983|PMID:28469787 20180316 RGD 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:737609 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004538 Hearing Loss ISO RGD:737609 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27798183 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004866 Ataxia ISO RGD:737609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia IEP D RGD:13513983|PMID:28469787 20180316 RGD protein:decreased expression:heart 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007456 Female Infertility ISO RGD:737609 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:7240710 20190814 OMIM 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:17576681|PMID:18487195|PMID:23339110|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29997391|PMID:30410802|PMID:31402629|PMID:9536098 631360 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 631361 Cacna2d3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:630 genetic disease ISO RGD:1349571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631361 Cacna2d3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349571 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606829 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606829 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1606829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606829 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631362 Mapkapk2 MAPK activated protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606829 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631363 Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 631363 Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F gene DOID:11198 DiGeorge syndrome ISO RGD:737169 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 631363 Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F gene DOID:630 genetic disease ISO RGD:737169 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:0060180 colitis ISO RGD:1351636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:0080208 non-alcoholic fatty liver disease treatment IEP D RGD:153352323|PMID:27982256 20220915 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:1074 kidney failure treatment IEP D RGD:13781896|PMID:25594614 20180813 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment IMP D RGD:13781879|PMID:28528966 20180809 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:1351636 D RGD:13781895|PMID:25603815 20180813 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:3042 allergic contact dermatitis ISO RGD:1351636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:3393 coronary artery disease ISO RGD:1351636 D RGD:1642340|PMID:17283255 20070912 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:3407 carotid artery disease ISO RGD:1351636 D RGD:1642340|PMID:17283255 20070912 RGD mRNA:increased expression:carotid artery 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:13781880|PMID:28495827 20180810 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351636 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351636 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1351636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension IEP D RGD:13781882|PMID:28202489 20180810 RGD protein:increased expression:lung: 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1351636 D RGD:13781882|PMID:28202489 20180810 RGD mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:1332214 D RGD:13781882|PMID:28202489 20180810 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:824 periodontitis IEP D RGD:13781894|PMID:26456152 20180813 RGD associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue: 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2311099|PMID:18410550 20090624 RGD protein:decreased expression:fat cell 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome IAGP D RGD:1642345|PMID:15922301 20070912 RGD DNA:repeats:intron 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:1351636 D RGD:1642337|PMID:17556870 20070912 RGD protein:increased expression:plasma 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:1351636 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1351636 D RGD:1642341|PMID:17582143 20070912 RGD associated with Polycystic Ovary Syndrome;protein:increased expression:serum 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9007980 Sleep Deprivation IEP D RGD:13781877|PMID:28860003 20180809 RGD RNA:increased expression:liver: 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9008091 Optic Nerve Injuries treatment IMP D RGD:13781885|PMID:28032230 20180810 RGD 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351636 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:23922874|PMID:32005247 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:2311099|PMID:18410550 20110503 RGD protein:increased expression:serum 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 631365 Nampt nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:1642336|PMID:17618961 20070912 RGD protein:increased expression:serum 631366 Rbm10 RNA binding motif protein 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732878 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 631366 Rbm10 RNA binding motif protein 10 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 631366 Rbm10 RNA binding motif protein 10 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 631366 Rbm10 RNA binding motif protein 10 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 631366 Rbm10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:7240710 20130221 OMIM 631366 Rbm10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TARP syndrome PMID:20451169|PMID:21910224|PMID:24259342|PMID:25741868|PMID:28492532|PMID:30462380|PMID:32812661|PMID:5410571 631366 Rbm10 RNA binding motif protein 10 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 631366 Rbm10 RNA binding motif protein 10 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 631366 Rbm10 RNA binding motif protein 10 gene DOID:1059 intellectual disability ISO RGD:732878 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 631366 Rbm10 RNA binding motif protein 10 gene DOID:12849 autistic disorder ISO RGD:732878 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631366 Rbm10 RNA binding motif protein 10 gene DOID:1324 lung cancer onset ISO RGD:732878 D RGD:150429789|PMID:33219256 20220222 RGD 631366 Rbm10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:11097386|PMID:22980975 20220222 RGD DNA:missense mutations, protein-truncating variants: :multiple 631366 Rbm10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:151356983|PMID:29085465 20220222 RGD mRNA, protein:decreased expression:lung 631366 Rbm10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:151356984|PMID:30955253 20220222 RGD 631366 Rbm10 RNA binding motif protein 10 gene DOID:6000 congestive heart failure IEP D RGD:151667449|PMID:30257214 20220411 RGD protein:decreased expression:heart 631366 Rbm10 RNA binding motif protein 10 gene DOID:630 genetic disease ISO RGD:732878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15853797|PMID:28492532 631366 Rbm10 RNA binding motif protein 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732878 D RGD:151356975|PMID:32572914 20220222 RGD mRNA:decreased expression:liver 631366 Rbm10 RNA binding motif protein 10 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732878 D RGD:151356993|PMID:30405763 20220222 RGD associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human) 631366 Rbm10 RNA binding motif protein 10 gene DOID:9003936 Cardiomegaly IEP D RGD:151667449|PMID:30257214 20220411 RGD protein:decreased expression:heart 631366 Rbm10 RNA binding motif protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732878 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631366 Rbm10 RNA binding motif protein 10 gene DOID:9256 colorectal cancer onset ISO RGD:732878 D RGD:151356979|PMID:33194656 20220222 RGD 631367 Spats1 spermatogenesis associated, serine-rich 1 gene DOID:630 genetic disease ISO RGD:736705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631368 Gpm6a glycoprotein m6a gene DOID:630 genetic disease ISO RGD:736321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631368 Gpm6a glycoprotein m6a gene DOID:684 hepatocellular carcinoma ISO RGD:736321 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 631368 Gpm6a glycoprotein m6a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736321 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631369 Serpinf1 serpin family F member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 631369 Serpinf1 serpin family F member 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1342519 D RGD:27226705|PMID:26121037 20200522 RGD protein:increased expression:serum (human) 631369 Serpinf1 serpin family F member 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1342519 D RGD:27226700|PMID:28365916 20200522 RGD human gene in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:32770541 631369 Serpinf1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:7240710 20151105 OMIM 631369 Serpinf1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 PMID:17576681|PMID:21353196|PMID:21826736|PMID:23054245|PMID:25565926|PMID:25741868|PMID:27056980|PMID:27796462|PMID:28116328|PMID:28492532|PMID:29150909|PMID:30968248|PMID:9536098 631369 Serpinf1 serpin family F member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1342519 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 631369 Serpinf1 serpin family F member 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:1342519 D RGD:8554900|PMID:18837062 20140513 RGD human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:10652 Alzheimer's disease IDA D RGD:2312353|PMID:17073149 20090807 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342519 D RGD:27226702|PMID:28320113 20200522 RGD protein:increased expression:cerebrospinal fluid, serum (human) 631369 Serpinf1 serpin family F member 1 gene DOID:1074 kidney failure ISO RGD:1342519 D RGD:36174008|PMID:16828495 20200723 RGD protein:increased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:10762 portal hypertension IEP D RGD:8655539|PMID:22024088 20140514 RGD protein:increased expression:gastric wall (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:11168 anogenital venereal wart disease_progression ISO RGD:1342519 D RGD:27226706|PMID:23569025 20200522 RGD mRNA, protein:decreased expression:skin of body (human) 631369 Serpinf1 serpin family F member 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:1342519 D RGD:8554890|PMID:19596319 20140512 RGD human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1342519 D RGD:8554886|PMID:10441236 20140512 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:11476 osteoporosis ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532|PMID:29150909|PMID:30968248 631369 Serpinf1 serpin family F member 1 gene DOID:11713 diabetic angiopathy ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 631369 Serpinf1 serpin family F member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28116328|PMID:28492532|PMID:29150909|PMID:29807018|PMID:30968248|PMID:32413570|PMID:33093841 631369 Serpinf1 serpin family F member 1 gene DOID:12986 leukostasis treatment ISO RGD:1342519 D RGD:8554884|PMID:16797605 20140512 RGD associated with Diabetic Retinopathy; human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:13025 retinopathy of prematurity IEP D RGD:8655555|PMID:21738387 20140515 RGD mRNA, protein:increased expression:retina (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19553628 631369 Serpinf1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:8554887|PMID:16973658 20140512 RGD protein:increased expression:aqueous humor (human) 631369 Serpinf1 serpin family F member 1 gene DOID:13141 uveitis treatment ISO RGD:1342519 D RGD:8554902|PMID:19553628 20140513 RGD associated with Keratitis; human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342519 D RGD:1580135|PMID:15059706 20140813 RGD protein:increased expression:vitreous fluid (human) 631369 Serpinf1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy treatment ISO RGD:1342519 D RGD:8554895|PMID:11723044 20140512 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:13514 venous tributary occlusion of retina ISO RGD:1342519 D RGD:8554903|PMID:20714746 20141211 RGD protein:decreased expression:vitreous humor (human) 631369 Serpinf1 serpin family F member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1342519 D RGD:27226704|PMID:27748324 20200522 RGD protein:increased expression:serum (human) 631369 Serpinf1 serpin family F member 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1342519 D RGD:36174004|PMID:6158114 20200723 RGD protein:decreased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:14330 Parkinson's disease severity ISO RGD:1342519 D RGD:27226691|PMID:31593110 20200521 RGD protein:increased expression:serum, extracellular exosome (human) 631369 Serpinf1 serpin family F member 1 gene DOID:1727 retinal vein occlusion ISO RGD:1342519 D RGD:8554901|PMID:21275514 20140513 RGD protein:decreased expression:vitreous humor (human) 631369 Serpinf1 serpin family F member 1 gene DOID:2154 nephroblastoma ISO RGD:1342519 D RGD:2312354|PMID:16863836 20090807 RGD protein:decreased expression:kidney 631369 Serpinf1 serpin family F member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1342519 D RGD:8613878|PMID:18624913 20140513 RGD human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:2450 central retinal vein occlusion IEP D RGD:5490120|PMID:21487926 20120321 RGD protein:increased expression:neuroretina (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:289 endometriosis IEP D RGD:8638001|PMID:22975116 20140513 RGD protein:decreased expression:endometrium (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:289 endometriosis treatment ISO RGD:1342519 D RGD:8590225|PMID:23466670 20140513 RGD human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342519 D RGD:8554892|PMID:12067231 20140512 RGD protein:increased expression:cerebrospinal fluid (human) 631369 Serpinf1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:8633656|PMID:17479108 20140513 RGD human gene in rat model 631369 Serpinf1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:8655561|PMID:17458711 20140515 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:8655545|PMID:22714093 20140514 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1342519 D RGD:27226710|PMID:20230924 20200522 RGD protein:increased expression:serum, pleural effusion (human) 631369 Serpinf1 serpin family F member 1 gene DOID:4448 macular degeneration IEP D RGD:8655542|PMID:21191149 20140514 RGD mRNA:altered expression:retina (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:1342519 D RGD:8554867|PMID:16019000 20140509 RGD protein:decreased expression:optic choroid (human) 631369 Serpinf1 serpin family F member 1 gene DOID:4449 macular retinal edema ISO RGD:1342519 D RGD:8554903|PMID:20714746 20140513 RGD associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human) 631369 Serpinf1 serpin family F member 1 gene DOID:4449 macular retinal edema treatment ISO RGD:1342519 D RGD:8655546|PMID:21139695 20140514 RGD associated with Diabetes Mellitus, Experimental; human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:4724 brain edema treatment ISO RGD:1342519 D RGD:8554891|PMID:17692294 20140512 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:5052 melioidosis ISO RGD:1342519 D RGD:36174010|PMID:23992406 20200723 RGD protein:increased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:5052 melioidosis ISO RGD:1342519 D RGD:36174011|PMID:25370187 20200723 RGD protein:increased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:5052 melioidosis severity ISO RGD:1332124 D RGD:36174010|PMID:23992406 20200723 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:1342519 D RGD:8635395|PMID:23295464 20140513 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:6039 uveal melanoma severity ISO RGD:1332124 D RGD:8554893|PMID:23793989 20140512 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:630 genetic disease ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631369 Serpinf1 serpin family F member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342519 D RGD:27226704|PMID:27748324 20200522 RGD associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human) 631369 Serpinf1 serpin family F member 1 gene DOID:768 retinoblastoma treatment ISO RGD:1342519 D RGD:8554870|PMID:19832843 20140509 RGD human protein and tumor xenograft in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:8463 corneal ulcer ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19553628 631369 Serpinf1 serpin family F member 1 gene DOID:8466 retinal degeneration treatment ISO RGD:1342519 D RGD:8554889|PMID:10600408 20140512 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1342519 D RGD:28867246|PMID:16321154 20200608 RGD protein:increased expression:cerebrospinal fluid (human) 631369 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy IEP D RGD:2312348|PMID:16054135 20090807 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina 631369 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1332124 D RGD:2312344|PMID:18025835 20090807 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor 631369 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:2312337|PMID:19365032 20090806 RGD protein:alternative form:vitreous humor 631369 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:2312341|PMID:18455830 20090807 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum 631369 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:2312346|PMID:17658465 20090807 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human) 631369 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy severity ISO RGD:1342519 D RGD:1580135|PMID:15059706 19990101 RGD protein:increased expression:vitreous humor 631369 Serpinf1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 631369 Serpinf1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:27226709|PMID:20128793 20200522 RGD protein:increased expression:skin of body (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:2312355|PMID:15313905 20090807 RGD associated with Prostatic Neoplasms 631369 Serpinf1 serpin family F member 1 gene DOID:9000998 Brain Injuries IEP D RGD:8622925|PMID:17709187 20140513 RGD protein:altered expression:cerebellum (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1342519 D RGD:8612994|PMID:20142768 20140513 RGD human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization IEP D RGD:2312356|PMID:15312607 20090807 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1342519 D RGD:8554883|PMID:16490490 20140512 RGD protein:increased expression:aqueous humor (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:27226711|PMID:19778186 20200522 RGD human gene in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:28867245|PMID:12037010 20200608 RGD human gene in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:8554866|PMID:11424092 20140509 RGD human gene in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:8655557|PMID:19850839 20140515 RGD human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:7241556|PMID:22300381 20140514 RGD mRNA:increased expression:pelvic ganglion (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9001542 Albuminuria treatment ISO RGD:1342519 D RGD:8554875|PMID:16731830 20140512 RGD associated with Diabetes Mellitus, Experimental; human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1342519 D RGD:8554871|PMID:16822505 20140509 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1359799|PMID:15616035 19990101 RGD mRNA, protein:decreased expression:renal cortex, renal medulla (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342519 D RGD:8554896|PMID:18523656 20140512 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342519 D RGD:8554865|PMID:23884140 20140509 RGD human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21671747 631369 Serpinf1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1342519 D RGD:8593319|PMID:20360944 20140513 RGD human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9002669 Hypoxia IEP D RGD:8655558|PMID:18331686 20140515 RGD mRNA, protein:decreased expression:retina (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy susceptibility IEP D RGD:8655544|PMID:11916948 20140514 RGD mRNA, protein:decreased expression:retina (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1342519 D RGD:8554878|PMID:21281801 20140512 RGD human gene in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 631369 Serpinf1 serpin family F member 1 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1342519 D RGD:8655540|PMID:17850801 20140514 RGD human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9004042 Olfaction Disorders IEP D RGD:8655547|PMID:23825416 20141020 RGD mRNA:decreased expression:olfactory bulb (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9004332 Osteoarthritis, Experimental severity ISO RGD:1332124 D RGD:27226703|PMID:28122611 20200522 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9005372 Inflammation ISO RGD:1342519 D RGD:2312342|PMID:18322021 20090807 RGD associated with Diabetic Nephropathy 631369 Serpinf1 serpin family F member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312338|PMID:19237211 20090806 RGD protein:decreased expression:platelet 631369 Serpinf1 serpin family F member 1 gene DOID:9005930 Endotoxemia ISO RGD:1342519 D RGD:36174005|PMID:12386642 20200723 RGD protein:increased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9005966 Staphylococcal Skin Infections severity ISO RGD:1332124 D RGD:36174009|PMID:25515118 20200723 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1342519 D RGD:8618841|PMID:17525281 20140513 RGD human gene in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1342519 D RGD:30296660|PMID:9038736 20200612 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:2312349|PMID:18996124 20090807 RGD protein:decreased expression:liver 631369 Serpinf1 serpin family F member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342519 D RGD:30296653|PMID:11045282 20200611 RGD associated with chronic kidney disease;protein:increased expression:blood (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9007367 Septic Peritonitis ISO RGD:1342519 D RGD:30296661|PMID:8869327 20200612 RGD protein:increased expression:peritoneal fluid (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:2312339|PMID:19073347 20090806 RGD associated with Hypertension 631369 Serpinf1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:8655563|PMID:22714715 20140515 RGD human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9007692 Insulin Resistance treatment IDA D RGD:8642993|PMID:24288442 20140513 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:1342519 D RGD:8554881|PMID:11867604 20140512 RGD associated with Oxygen-Induced Retinopathy; human protein in a mouse model 631369 Serpinf1 serpin family F member 1 gene DOID:9007835 Sickle Cell Retinopathy ISO RGD:1342519 D RGD:8554869|PMID:12957143 20140509 RGD protein:increased expression:retinal blood vessels (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9008609 Endotoxin-Induced Uveitis IEP D RGD:1580133|PMID:16368716 20140512 RGD protein:decreased expression:retina, plasma (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342519 D RGD:153350137|PMID:23393224 20220909 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:8554888|PMID:17653050 20140512 RGD protein:increased expression:plasma (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342519 D RGD:2312340|PMID:18715664 20090807 RGD protein:increased expression:serum 631369 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus severity IMP D RGD:8655541|PMID:24530621 20140514 RGD 631369 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1342519 D RGD:8655541|PMID:24530621 20140514 RGD human protein in a rat model 631369 Serpinf1 serpin family F member 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1342519 D RGD:36174007|PMID:18939350 20200723 RGD protein:increased expression:plasma (human) 631369 Serpinf1 serpin family F member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342519 D RGD:2312345|PMID:17971181 20090807 RGD protein:increased expression:serum 631369 Serpinf1 serpin family F member 1 gene DOID:9970 obesity IEP D RGD:8633067|PMID:24424059 20140513 RGD protein:increased expression:serum (rat) 631369 Serpinf1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:1342519 D RGD:2312347|PMID:17491674 20090807 RGD 631371 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1606585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:14635103|PMID:17438226|PMID:23430864|PMID:25246302|PMID:25741868|PMID:27104484|PMID:28492532|PMID:30091983|PMID:31267348|PMID:32402538|PMID:33203024|PMID:34882073 631371 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1059 intellectual disability ISO RGD:1606585 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 631371 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1826 epilepsy ISO RGD:1606585 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 631371 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:630 genetic disease ISO RGD:1606585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30091983 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1354102 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human) 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:7240710 20190417 OMIM 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations PMID:25741868|PMID:28492532|PMID:30449657|PMID:32198973 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12614677|PMID:25741868|PMID:28492532 631372 MAST1 microtubule associated serine/threonine kinase 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 631373 Sla src-like adaptor gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 631373 Sla src-like adaptor gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:1351693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:25741868|PMID:28492532 631373 Sla src-like adaptor gene DOID:12306 vitiligo ISO RGD:1351693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 631373 Sla src-like adaptor gene DOID:14264 benign neonatal seizures ISO RGD:1351693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 631373 Sla src-like adaptor gene DOID:630 genetic disease ISO RGD:1351693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631373 Sla src-like adaptor gene DOID:7188 autoimmune thyroiditis ISO RGD:1351693 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:25741868 631373 Sla src-like adaptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:27261973|PMID:27600704|PMID:28492532|PMID:28673551|PMID:33040525 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1351292 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:7240710 20170315 OMIM 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551|PMID:30054523|PMID:31780880|PMID:32551328|PMID:33040525|PMID:33258288|PMID:34489640|PMID:9536098 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1351292 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1351292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:10907 microcephaly ISO RGD:1351292 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1351292 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1351292 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:630 genetic disease ISO RGD:1351292 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351292 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351292 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 631374 Slc13a5 solute carrier family 13 member 5 gene DOID:9452 fatty liver disease ISO RGD:1351292 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26303333 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:7240710 20130221 OMIM 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 3 PMID:16407130|PMID:17576681|PMID:17579185|PMID:19092153|PMID:24115288|PMID:24482100|PMID:25741868|PMID:28492532|PMID:29741264|PMID:29790589|PMID:9536098 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:10763 hypertension IMP D RGD:11252087|PMID:22686466 20160623 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:10780 primary polycythemia ISO RGD:735297 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1332220 D RGD:11251770|PMID:18096761 20160622 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735297 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:1332220 D RGD:11251766|PMID:26848160 20160622 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:3021 acute kidney failure IEP D RGD:11252083|PMID:19349364 20160623 RGD mRNA, protein:decreased expression:kidney 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:3602 toxic encephalopathy ISO RGD:735297 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:735297 D RGD:13504705|PMID:20978146 20180117 RGD protein:increased expression:kidney 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:5844 myocardial infarction IEP D RGD:11252084|PMID:16765982 20160623 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:630 genetic disease ISO RGD:735297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:8432 polycythemia ISO RGD:1332220 D RGD:11251767|PMID:24121508 20160622 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:11073369|PMID:23859443 20160622 RGD DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human) 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:11251768|PMID:21828119 20160622 RGD DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human) 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:11251769|PMID:21933857 20160622 RGD DNA:missense mutations, nonsense mutation: :multiple 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:11251771|PMID:16407130 20160622 RGD DNA:missense mutation: :p.P317R (950C>G) (human) 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:11252085|PMID:16761101 20160623 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11252083|PMID:19349364 20160623 RGD mRNA, protein:decreased expression:kidney 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21933857|PMID:24115288|PMID:27774468|PMID:28492532|PMID:29790589 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21933857|PMID:24115288|PMID:25741868|PMID:27774468|PMID:28492532|PMID:29790589 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:1332220 D RGD:11251775|PMID:20185832 20160622 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9009039 Hyperemia ISO RGD:1332220 D RGD:11251770|PMID:18096761 20160622 RGD 631375 Egln1 egl-9 family hypoxia-inducible factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735297 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:0050742 nicotine dependence ISO RGD:736328 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:2340 craniosynostosis ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:736328 D RGD:13504705|PMID:20978146 20180117 RGD protein:increased expression:kidney 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:630 genetic disease ISO RGD:736328 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 631376 Egln2 egl-9 family hypoxia-inducible factor 2 gene DOID:9269 maple syrup urine disease ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 631377 Sp7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:7240710 20140911 OMIM 631377 Sp7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20579626|PMID:25741868|PMID:28492532|PMID:29382611 631377 Sp7 Sp7 transcription factor gene DOID:12347 osteogenesis imperfecta ISO RGD:736995 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 631377 Sp7 Sp7 transcription factor gene DOID:1712 aortic valve stenosis severity ISO RGD:736995 D RGD:267010069|PMID:23578508 20230418 RGD 631377 Sp7 Sp7 transcription factor gene DOID:630 genetic disease ISO RGD:736995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 631378 Aard alanine and arginine rich domain containing protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2311262 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 631378 Aard alanine and arginine rich domain containing protein gene DOID:206 hereditary multiple exostoses ISO RGD:2311262 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 631378 Aard alanine and arginine rich domain containing protein gene DOID:630 genetic disease ISO RGD:2311262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736189 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:736189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736189 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:403 mouth disease ISO RGD:736189 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:543 dystonia ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:630 genetic disease ISO RGD:736189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736189 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:7240710 20140911 OMIM 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies PMID:22019272|PMID:25741868 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736189 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 631379 Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 gene DOID:9970 obesity ISO RGD:736189 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 631380 Zfp180 zinc finger protein 180 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 631380 Zfp180 zinc finger protein 180 gene DOID:630 genetic disease ISO RGD:1348239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1343554 D RGD:25330347|PMID:22153618 20200408 RGD 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1343554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:219 colon cancer ISO RGD:1343554 D RGD:2317016|PMID:19956880 20100310 RGD mRNA, protein:decreased expression:colon (human) 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:3459 breast carcinoma ISO RGD:1343554 D RGD:2317017|PMID:19794912 20100310 RGD mRNA, protein:decreased expression:breast carcinoma (human) 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:1343554 D RGD:2317019|PMID:16270321 20100310 RGD mRNA:decreased expression:ovarian carcinoma (human) 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:4866 salivary gland adenoid cystic carcinoma disease_progression ISO RGD:1343554 D RGD:25330345|PMID:25885343 20200408 RGD 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1343554 D RGD:25330344|PMID:31882471 20200408 RGD 631381 Mtus1 microtubule associated scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1343554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631383 Taar9 trace amine-associated receptor 9 gene DOID:630 genetic disease ISO RGD:1352345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631384 Taar6 trace amine-associated receptor 6 gene DOID:630 genetic disease ISO RGD:1348964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631386 Taar8b trace amine-associated receptor 8b gene DOID:630 genetic disease ISO RGD:1345308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631389 Otop1 otopetrin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:735811 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 631389 Otop1 otopetrin 1 gene DOID:630 genetic disease ISO RGD:735811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631396 Gfm1 G elongation factor, mitochondrial 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:21119709|PMID:25741868|PMID:28216230|PMID:28492532|PMID:31683770 631396 Gfm1 G elongation factor, mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:7240710 20130221 OMIM 631396 Gfm1 G elongation factor, mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:15537906|PMID:16199547|PMID:16632485|PMID:17160893|PMID:17576681|PMID:20843780|PMID:21119709|PMID:21364917|PMID:21986555|PMID:22277967|PMID:24033266|PMID:25741868|PMID:25852744|PMID:28216230|PMID:28492532|PMID:31680380|PMID:32313153|PMID:32746448|PMID:32776492|PMID:9536098 631396 Gfm1 G elongation factor, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1604558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1342914 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1342914 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:10923 sickle cell anemia ISO RGD:1342914 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:12849 autistic disorder ISO RGD:1342914 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1342914 D RGD:1549872|PMID:11003705 19990101 RGD 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1342914 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342914 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:5419 schizophrenia ISO RGD:1342914 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:630 genetic disease ISO RGD:1342914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:8445 intestinal volvulus ISO RGD:1342914 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:9000918 Disease Progression ISO RGD:1342914 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342914 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:9004441 Experimental Leukemia ISO RGD:1342914 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 631397 Lat2 linker for activation of T cells family, member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1342914 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 631398 Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:0111546 Currarino syndrome ISO RGD:1343870 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 631398 Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1343870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631399 Pafah2 platelet-activating factor acetylhydrolase 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1349698 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 631399 Pafah2 platelet-activating factor acetylhydrolase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 631399 Pafah2 platelet-activating factor acetylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1349698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease ISO RGD:1331948 D RGD:14700993|PMID:28543567 20190903 RGD protein:increased expression: cholangiocyte 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease treatment ISO RGD:1331948 D RGD:14700993|PMID:28543567 20190903 RGD 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0080322 polycystic kidney disease IEP D RGD:14700993|PMID:28543567 20190903 RGD mRNA,protein:increased expression: cholangiocyte 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:15092090|PMID:30038487 20200106 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736919 D RGD:14700993|PMID:28543567 20190903 RGD mRNA,protein:increased expression: cholangiocyte 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:630 genetic disease ISO RGD:736919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:8778 Crohn's disease ISO RGD:736919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23566200 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736919 D RGD:14700993|PMID:28543567 20190903 RGD mRNA,protein:increased expression: cholangiocyte 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:9001581 Constipation ISO RGD:736919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23041323 631400 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736919 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:0050450 Gitelman syndrome ISS RGD:1557765 D RGD:13592920 20180518 MouseDO OMIM:263800 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension ISO RGD:1353270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension ISO RGD:1353270 D RGD:1580830|PMID:15110905 19990101 RGD 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension no_association IAGP D RGD:629611|PMID:12642508 20070510 RGD 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:224 transient cerebral ischemia IEP D RGD:14398833|PMID:27798271 20190503 RGD 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:1580828|PMID:11498583 19990101 RGD 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:2298790|PMID:18547946 20080723 RGD 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:630 genetic disease ISO RGD:1353270 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28915228 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1353270 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:7240710 20141015 OMIM 631401 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B PMID:11498583|PMID:12107233|PMID:15110905|PMID:15292344|PMID:18547946|PMID:21236712|PMID:25741868|PMID:25741916|PMID:28492532|PMID:30773290|PMID:718348|PMID:9171836 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353839 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868|PMID:28492532 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:7240710 20140911 OMIM 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:23143598|PMID:23966245|PMID:25741868|PMID:27310681|PMID:28492532|PMID:30086211 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:12849 autistic disorder ISO RGD:1353839 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:2519 testicular disease ISO RGD:1353839 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:630 genetic disease ISO RGD:1353839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 631402 Igsf1 immunoglobulin superfamily, member 1 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868|PMID:28492532 631403 Smug1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:10283 prostate cancer ISO RGD:1606814 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 631403 Smug1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1606814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631403 Smug1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606814 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0080690 RASopathy ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:735494 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:7240710 20130425 OMIM 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:16199547|PMID:17576681|PMID:17592081|PMID:20226894|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30821358|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536098 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:1059 intellectual disability ISO RGD:735494 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:735494 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:2843 long QT syndrome ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9002990 Familial Atrial Fibrillation 17 ISO RGD:735494 D RGD:8554872 20190319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 PMID:23604097 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735494 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699 631404 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9007661 Dwarfism ISO RGD:735494 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 631405 Slc22a17 solute carrier family 22, member 17 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 631405 Slc22a17 solute carrier family 22, member 17 gene DOID:630 genetic disease ISO RGD:1348088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631405 Slc22a17 solute carrier family 22, member 17 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 631405 Slc22a17 solute carrier family 22, member 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348088 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 631406 Fzd5 frizzled class receptor 5 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1345907 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 631406 Fzd5 frizzled class receptor 5 gene DOID:0080600 COVID-19 ISO RGD:1345907 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 631406 Fzd5 frizzled class receptor 5 gene DOID:12270 coloboma ISO RGD:1345907 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868|PMID:26908622 631406 Fzd5 frizzled class receptor 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 631406 Fzd5 frizzled class receptor 5 gene DOID:630 genetic disease ISO RGD:1345907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631406 Fzd5 frizzled class receptor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345907 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:1059 intellectual disability ISO RGD:1348028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:12849 autistic disorder ISO RGD:1348028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:1561 cognitive disorder ISO RGD:1348028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:1826 epilepsy ISO RGD:1348028 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18165320 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:3331 frontal lobe epilepsy ISO RGD:1348028 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:630 genetic disease ISO RGD:1348028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631407 Slc4a10 solute carrier family 4 member 10 gene DOID:9428 intracranial hypertension ISO RGD:1348028 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18165320 631408 Mmp8 matrix metallopeptidase 8 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 631408 Mmp8 matrix metallopeptidase 8 gene DOID:0080600 COVID-19 ISO RGD:1351878 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 631408 Mmp8 matrix metallopeptidase 8 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1351878 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:15367487 631408 Mmp8 matrix metallopeptidase 8 gene DOID:1059 intellectual disability ISO RGD:1351878 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 631408 Mmp8 matrix metallopeptidase 8 gene DOID:12704 ataxia telangiectasia ISO RGD:1351878 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 631408 Mmp8 matrix metallopeptidase 8 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351878 D RGD:1582351|PMID:16820601 20190122 RGD protein:decreased expression:aorta (human) 631408 Mmp8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:2298552|PMID:18366705 20080710 RGD 631408 Mmp8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:2298553|PMID:17974962 20080710 RGD 631408 Mmp8 matrix metallopeptidase 8 gene DOID:1909 melanoma ISO RGD:1351878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19330028 631408 Mmp8 matrix metallopeptidase 8 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351878 D RGD:2306084|PMID:14602136 20090319 RGD 631408 Mmp8 matrix metallopeptidase 8 gene DOID:2773 contact dermatitis ISO RGD:1351878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 631408 Mmp8 matrix metallopeptidase 8 gene DOID:2871 endometrial carcinoma ISO RGD:1351878 D RGD:2306086|PMID:10502722 20090319 RGD 631408 Mmp8 matrix metallopeptidase 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351878 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 631408 Mmp8 matrix metallopeptidase 8 gene DOID:3407 carotid artery disease ISO RGD:1351878 D RGD:1582626|PMID:16339461 20061115 RGD 631408 Mmp8 matrix metallopeptidase 8 gene DOID:6000 congestive heart failure disease_progression IEP D RGD:1582587|PMID:10773235 20130122 RGD protein:increased expression:left ventricle (rat) 631408 Mmp8 matrix metallopeptidase 8 gene DOID:630 genetic disease ISO RGD:1351878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631408 Mmp8 matrix metallopeptidase 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351878 D RGD:7207131|PMID:15194590 20130122 RGD protein:increased expression:synovial fluid, serum (human) 631408 Mmp8 matrix metallopeptidase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1351878 D RGD:1582641|PMID:16432074 20061115 RGD 631408 Mmp8 matrix metallopeptidase 8 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 631408 Mmp8 matrix metallopeptidase 8 gene DOID:8398 osteoarthritis ISO RGD:1351878 D RGD:7207131|PMID:15194590 20130122 RGD protein:increased expression:synovial fluid, serum (human) 631408 Mmp8 matrix metallopeptidase 8 gene DOID:850 lung disease ISO RGD:1351878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 631408 Mmp8 matrix metallopeptidase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15057751 631408 Mmp8 matrix metallopeptidase 8 gene DOID:9001600 Wounds and Injuries ISO RGD:1351878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11172683 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1347335 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157164 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347335 D RGD:10413860|PMID:23948885 20151125 RGD protein:decreased expression:serum (human) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:10762 portal hypertension IEP D RGD:5686823|PMID:19383083 20120127 RGD mRNA:decreased expression:stomach (rat) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:219 colon cancer ISO RGD:1347335 D RGD:153305944|PMID:16774932 20220810 RGD protein:increased expression:colon (human) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:2773 contact dermatitis ISO RGD:1347335 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1347335 D RGD:152177907|PMID:24796583 20220519 RGD protein:increased expression:liver (human) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347335 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:630 genetic disease ISO RGD:1347335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347335 D RGD:10402843|PMID:21417552 20151102 RGD mRNA:increased expression:peripheral blood leukocyte: 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347335 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1347335 D RGD:10412651|PMID:20886841 20151118 RGD protein:decreased phosphorylation:frontal cortex (human) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1347335 D RGD:10429075|PMID:16139532 20151203 RGD mRNA:decreased expression:blood (human) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1553279 D RGD:10412655|PMID:9497939 20151118 RGD mRNA:increased expression:tibial plateaux (mouse) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347335 D RGD:10413860|PMID:23948885 20151125 RGD protein:decreased expression:serum (human) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347335 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5686396|PMID:21104931 20120120 RGD mRNA:decreased expression:brain (rat) 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9008138 Ductal Carcinoma IDA D RGD:5686847|PMID:19322027 20120127 RGD 631409 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347335 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:28492532|PMID:28635952 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:1289 neurodegenerative disease ISO RGD:1347283 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:2661 myoepithelioma ISO RGD:1347283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:630 genetic disease ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27292112|PMID:28492532|PMID:9536098 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:7240710 20190315 OMIM 631410 Vac14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset PMID:25741868|PMID:27292112|PMID:28492532 631411 Nrep neuronal regeneration related protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 631411 Nrep neuronal regeneration related protein gene DOID:0080600 COVID-19 ISO RGD:1351571 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 631411 Nrep neuronal regeneration related protein gene DOID:630 genetic disease ISO RGD:1351571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631411 Nrep neuronal regeneration related protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631411 Nrep neuronal regeneration related protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351571 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631411 Nrep neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 631411 Nrep neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 631411 Nrep neuronal regeneration related protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 631411 Nrep neuronal regeneration related protein gene DOID:9452 fatty liver disease ISO RGD:1351571 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 631412 E2f6 E2F transcription factor 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605732 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 631412 E2f6 E2F transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1605732 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 631412 E2f6 E2F transcription factor 6 gene DOID:630 genetic disease ISO RGD:1605732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631412 E2f6 E2F transcription factor 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605732 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35225430 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:11446 sciatic neuropathy IEP D RGD:14390159|PMID:23613963 20190222 RGD protein:increased expression:dorsal root ganglion (rat) 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:630 genetic disease ISO RGD:735629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735629 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:9001553 Spinal Cord Compression IEP D RGD:14390159|PMID:23613963 20190222 RGD mRNA, protein:increased expression:dorsal root ganglion (rat) 631413 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:9008091 Optic Nerve Injuries treatment IEP D RGD:14390159|PMID:23613963 20190222 RGD 631414 Kcnf1 potassium voltage-gated channel modifier subfamily F member 1 gene DOID:10283 prostate cancer ISO RGD:735852 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 631414 Kcnf1 potassium voltage-gated channel modifier subfamily F member 1 gene DOID:630 genetic disease ISO RGD:735852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631415 Ppil3 peptidylprolyl isomerase like 3 gene DOID:630 genetic disease ISO RGD:1350391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631415 Ppil3 peptidylprolyl isomerase like 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350391 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 631415 Ppil3 peptidylprolyl isomerase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350391 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631416 Kcng1 potassium voltage-gated channel modifier subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1604067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631417 Insig2 insulin induced gene 2 gene DOID:630 genetic disease ISO RGD:735428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631417 Insig2 insulin induced gene 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631417 Insig2 insulin induced gene 2 gene DOID:9004657 Weight Gain ISO RGD:735428 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18195716|PMID:20373477 631417 Insig2 insulin induced gene 2 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:735429 D RGD:2308857|PMID:15096598 20090611 RGD associated with Obesity 631417 Insig2 insulin induced gene 2 gene DOID:9452 fatty liver disease severity ISO RGD:735429 D RGD:2308857|PMID:15096598 20090611 RGD associated with Obesity 631418 Ncstn nicastrin gene DOID:0060178 familial hemiplegic migraine ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 631418 Ncstn nicastrin gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 631418 Ncstn nicastrin gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 631418 Ncstn nicastrin gene DOID:0081292 traumatic brain injury ISO RGD:1551174 D RGD:13801189|PMID:18240300 20181101 RGD 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:13801048|PMID:19840113 20181030 RGD DNA:SNP:promoter:-922G>T (rs10752637) (human) 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:13801050|PMID:19394408 20181030 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:13801051|PMID:22404891 20181030 RGD protein:increased modification:brain 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:13801187|PMID:23595812 20181101 RGD 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:13801049|PMID:15157994 20181030 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:13801050|PMID:19394408 20181030 RGD DNA:SNP:promoter:-436C>T (human) 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:13801052|PMID:11992262 20181030 RGD DNA:missense mutation: :417N>Y (human) 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:13801188|PMID:14642438 20181101 RGD DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple 631418 Ncstn nicastrin gene DOID:10652 Alzheimer's disease onset ISO RGD:1351739 D RGD:13801052|PMID:11992262 20181030 RGD DNA:SNPs, haplotype:introns:multiple 631418 Ncstn nicastrin gene DOID:11054 urinary bladder cancer ISS RGD:1551174 D RGD:13592920 20180518 MouseDO OMIM:109800 631418 Ncstn nicastrin gene DOID:1540 parathyroid carcinoma ISO RGD:1351739 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 631418 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:11536124|PMID:27008863 20181030 RGD DNA:SNP:5' utr:rs1802778 (human) 631418 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:13801053|PMID:21364883 20181030 RGD DNA:missense mutation: :417N>Y (human) 631418 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:11536124|PMID:27008863 20181030 RGD 631418 Ncstn nicastrin gene DOID:5419 schizophrenia ISS RGD:1551174 D RGD:13592920 20180518 MouseDO OMIM:181500 631418 Ncstn nicastrin gene DOID:5419 schizophrenia no_association ISO RGD:1351739 D RGD:11536124|PMID:27008863 20181030 RGD DNA:SNPs: :multiple 631418 Ncstn nicastrin gene DOID:5419 schizophrenia no_association ISO RGD:1351739 D RGD:13801053|PMID:21364883 20181030 RGD DNA:SNPs: :multiple 631418 Ncstn nicastrin gene DOID:630 genetic disease ISO RGD:1351739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631418 Ncstn nicastrin gene DOID:8552 chronic myeloid leukemia ISS RGD:1551174 D RGD:13592920 20180518 MouseDO OMIM:608232 631418 Ncstn nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:7240710 20210721 OMIM 631418 Ncstn nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 1 PMID:20929727|PMID:21412258|PMID:22358060|PMID:25693063|PMID:25741868|PMID:28492532|PMID:32926179 631418 Ncstn nicastrin gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1351739 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 631418 Ncstn nicastrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351739 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 631419 Ric8b RIC8 guanine nucleotide exchange factor B gene DOID:630 genetic disease ISO RGD:1605657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631423 Tp53inp1 tumor protein p53 inducible nuclear protein 1 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISS RGD:1332277 D RGD:13592920 20180518 MouseDO OMIM:605552 631423 Tp53inp1 tumor protein p53 inducible nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1349699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631424 Itgal integrin subunit alpha L gene DOID:0050589 inflammatory bowel disease ISO RGD:1352170 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 631424 Itgal integrin subunit alpha L gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 631424 Itgal integrin subunit alpha L gene DOID:10952 nephritis treatment IMP D RGD:8547716|PMID:8773354 20140220 RGD 631424 Itgal integrin subunit alpha L gene DOID:13241 Behcet's disease ISO RGD:1352170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 631424 Itgal integrin subunit alpha L gene DOID:2661 myoepithelioma ISO RGD:1352170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 631424 Itgal integrin subunit alpha L gene DOID:630 genetic disease ISO RGD:1352170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631424 Itgal integrin subunit alpha L gene DOID:9001472 Nasal Polyps ISO RGD:1352170 D RGD:8547687|PMID:11593541 20140219 RGD protein:increased expression:nasal cavity epithelium 631424 Itgal integrin subunit alpha L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352170 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631424 Itgal integrin subunit alpha L gene DOID:9005372 Inflammation ISO RGD:1550382 D RGD:8547696|PMID:15037117 20140219 RGD associated with Sjogren's Syndrome 631425 Gsc goosecoid homeobox gene DOID:0081063 DICER1 syndrome ISO RGD:736937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 631425 Gsc goosecoid homeobox gene DOID:630 genetic disease ISO RGD:736937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631425 Gsc goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:7240710 20141015 OMIM 631425 Gsc goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities PMID:24290375|PMID:25741868|PMID:28492532|PMID:9475592 631425 Gsc goosecoid homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10433910 631426 Atp5mk ATP synthase membrane subunit K gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:7240710 20191211 OMIM 631426 Atp5mk ATP synthase membrane subunit K gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 PMID:25741868|PMID:29917077 631427 Cryl1 crystallin, lambda 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:28823936|PMID:30311386 631427 Cryl1 crystallin, lambda 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:735568 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:27480936|PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:27480936|PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:27480936|PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:14693 Clouston syndrome ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:2121 ectodermal dysplasia ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 631427 Cryl1 crystallin, lambda 1 gene DOID:630 genetic disease ISO RGD:735568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631427 Cryl1 crystallin, lambda 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 631427 Cryl1 crystallin, lambda 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735568 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 631428 Id4 inhibitor of DNA binding 4 gene DOID:11476 osteoporosis ISS RGD:1550640 D RGD:13592920 20180518 MouseDO OMIM:166710 631428 Id4 inhibitor of DNA binding 4 gene DOID:13580 cholestasis ISO RGD:736051 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 631428 Id4 inhibitor of DNA binding 4 gene DOID:305 carcinoma ISO RGD:736051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 631428 Id4 inhibitor of DNA binding 4 gene DOID:630 genetic disease ISO RGD:736051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631428 Id4 inhibitor of DNA binding 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:736051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 631428 Id4 inhibitor of DNA binding 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 631428 Id4 inhibitor of DNA binding 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631428 Id4 inhibitor of DNA binding 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 631428 Id4 inhibitor of DNA binding 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736051 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 631429 Myod1 myogenic differentiation 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 631429 Myod1 myogenic differentiation 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1353183 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 631429 Myod1 myogenic differentiation 1 gene DOID:1059 intellectual disability ISO RGD:1353183 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 631429 Myod1 myogenic differentiation 1 gene DOID:10763 hypertension IEP D RGD:9686076|PMID:22076133 20150129 RGD mRNA:decreased expression:gastrocnemius 631429 Myod1 myogenic differentiation 1 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1353183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24793135 631429 Myod1 myogenic differentiation 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1353183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 631429 Myod1 myogenic differentiation 1 gene DOID:422 congenital structural myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 631429 Myod1 myogenic differentiation 1 gene DOID:6000 congestive heart failure treatment IDA D RGD:9686081|PMID:20060348 20150129 RGD associated with Aortic Valve Stenosis 631429 Myod1 myogenic differentiation 1 gene DOID:630 genetic disease ISO RGD:1353183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631429 Myod1 myogenic differentiation 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 631429 Myod1 myogenic differentiation 1 gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:9686078|PMID:23781298 20150129 RGD 631429 Myod1 myogenic differentiation 1 gene DOID:9008444 Skeletal Muscle Injuries treatment IDA D RGD:9686075|PMID:19754672 20150129 RGD 631429 Myod1 myogenic differentiation 1 gene DOID:9009026 Congenital Myopathy 17 ISO RGD:1353183 D RGD:7240710 20201216 OMIM 631429 Myod1 myogenic differentiation 1 gene DOID:9009026 Congenital Myopathy 17 ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies PMID:25741868|PMID:26733463|PMID:30403323|PMID:31260566 631429 Myod1 myogenic differentiation 1 gene DOID:9009073 Diaphragmatic Hernia IEP D RGD:9686080|PMID:21258934 20150129 RGD mRNA:decreased expression:diaphragm 631429 Myod1 myogenic differentiation 1 gene DOID:9970 obesity IEP D RGD:2313320|PMID:18508911 20150202 RGD mRNA:decreased expression:plantaris 631429 Myod1 myogenic differentiation 1 gene DOID:9970 obesity IEP D RGD:9686079|PMID:22349736 20150129 RGD 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:736641 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:1059 intellectual disability ISO RGD:736641 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9000345 Periventricular Laminar Heterotopia ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular laminar heterotopia PMID:28492532 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:1300288|PMID:14647276 20140218 RGD DNA:missense mutations, deletion:exon:multiple 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:7240710 20130221 OMIM 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive PMID:12682315|PMID:14647276|PMID:17576681|PMID:18414213|PMID:23812912|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:9536098 631430 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736641 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 631431 Zhx3 zinc fingers and homeoboxes 3 gene DOID:2234 focal epilepsy ISO RGD:1342474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 631431 Zhx3 zinc fingers and homeoboxes 3 gene DOID:630 genetic disease ISO RGD:1342474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631432 Slu7 SLU7 homolog, splicing factor gene DOID:630 genetic disease ISO RGD:1606825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631432 Slu7 SLU7 homolog, splicing factor gene DOID:9004657 Weight Gain ISO RGD:1606825 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 631434 Bbc3 Bcl-2 binding component 3 gene DOID:224 transient cerebral ischemia IEP D RGD:634629|PMID:12913114 20130806 RGD protein:increased expression:hippocampus CA1, pyramidal cell 631434 Bbc3 Bcl-2 binding component 3 gene DOID:2316 brain ischemia ISO RGD:735389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 631434 Bbc3 Bcl-2 binding component 3 gene DOID:3669 intermittent claudication IEP D RGD:9586024|PMID:23658678 20150720 RGD 631434 Bbc3 Bcl-2 binding component 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735389 D RGD:150404268|PMID:23632475 20210903 RGD human cells in mouse model 631434 Bbc3 Bcl-2 binding component 3 gene DOID:630 genetic disease ISO RGD:735389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631434 Bbc3 Bcl-2 binding component 3 gene DOID:8584 Burkitt lymphoma ISO RGD:735389 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18573879 631434 Bbc3 Bcl-2 binding component 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735389 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16481741 631434 Bbc3 Bcl-2 binding component 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735389 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 631435 Orc1 origin recognition complex, subunit 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358632 631435 Orc1 origin recognition complex, subunit 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350406 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14564153|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:819054 631435 Orc1 origin recognition complex, subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:7240710 20190424 OMIM 631435 Orc1 origin recognition complex, subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:11477602|PMID:14564153|PMID:18414213|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22689986|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28112645|PMID:28492532|PMID:31274184|PMID:33482836|PMID:819054 631435 Orc1 origin recognition complex, subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1350406 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 631435 Orc1 origin recognition complex, subunit 1 gene DOID:10907 microcephaly ISO RGD:1350406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 631435 Orc1 origin recognition complex, subunit 1 gene DOID:630 genetic disease ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 631435 Orc1 origin recognition complex, subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350406 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 631435 Orc1 origin recognition complex, subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 631435 Orc1 origin recognition complex, subunit 1 gene DOID:9007661 Dwarfism ISO RGD:1350406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 631436 Myom1 myomesin 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1346217 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 631436 Myom1 myomesin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 631436 Myom1 myomesin 1 gene DOID:0060319 cardiac arrest ISO RGD:1346217 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Cardiac arrest 631436 Myom1 myomesin 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346217 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 631436 Myom1 myomesin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 631436 Myom1 myomesin 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 631436 Myom1 myomesin 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1346217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 631436 Myom1 myomesin 1 gene DOID:1059 intellectual disability ISO RGD:1346217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 631436 Myom1 myomesin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17576681|PMID:21256114|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26036949|PMID:26656175|PMID:27600940|PMID:27662471|PMID:28323875|PMID:28492532|PMID:28986455|PMID:28991257|PMID:31130284|PMID:32368696|PMID:33658040|PMID:9536098 631436 Myom1 myomesin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346217 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:28492532 631436 Myom1 myomesin 1 gene DOID:630 genetic disease ISO RGD:1346217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 631436 Myom1 myomesin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346217 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631436 Myom1 myomesin 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 631436 Myom1 myomesin 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346217 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:24033266|PMID:28492532 631436 Myom1 myomesin 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28492532|PMID:31130284 631436 Myom1 myomesin 1 gene DOID:9993 hypoglycemia ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:28492532 631437 Myom2 myomesin 2 gene DOID:630 genetic disease ISO RGD:1343651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631437 Myom2 myomesin 2 gene DOID:9006836 Contracture ISO RGD:1343651 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Contractures 631439 Psip1 PC4 and SRSF1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1350264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631439 Psip1 PC4 and SRSF1 interacting protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350264 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 631440 Aadac arylacetamide deacetylase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A PMID:21681106|PMID:25666259|PMID:27854218 631440 Aadac arylacetamide deacetylase gene DOID:5426 primary ovarian insufficiency ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary Ovarian Insufficiency PMID:21681106|PMID:25666259|PMID:27854218 631440 Aadac arylacetamide deacetylase gene DOID:630 genetic disease ISO RGD:737554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631440 Aadac arylacetamide deacetylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 631440 Aadac arylacetamide deacetylase gene DOID:9006101 Primary Ovarian Failure ISO RGD:737554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:21681106|PMID:25666259|PMID:27854218 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:7240710 20130425 OMIM 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 PMID:25741868 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:10652 Alzheimer's disease ISO RGD:1352838 D RGD:5686295|PMID:21029765 20120118 RGD DNA:repeat 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:1612 breast cancer disease_progression ISO RGD:1352838 D RGD:5686296|PMID:20669227 20120118 RGD DNA:SNP: :rs319217 (human) 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:630 genetic disease ISO RGD:1352838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18940801 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:5686297|PMID:20629122 20120118 RGD DNA:repeat, SNPs, haplotype:multiple 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352838 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:9008086 Developmental Disabilities ISO RGD:1352838 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:9074 systemic lupus erythematosus ISO RGD:1352838 D RGD:5686291|PMID:21746932 20120118 RGD 631441 Ppp2r2b protein phosphatase 2, regulatory subunit B, beta gene DOID:936 brain disease ISO RGD:1352838 D RGD:5686294|PMID:21471219 20120118 RGD 631494 Bp95 Blood pressure QTL 95 qtl DOID:10763 hypertension IDA D RGD:68885|PMID:11160999 19990101 RGD 631495 Bp96 Blood pressure QTL 96 qtl DOID:10763 hypertension IDA D RGD:619642|PMID:9449402 19990101 RGD 631496 Bp97 Blood pressure QTL 97 qtl DOID:10763 hypertension IDA D RGD:619642|PMID:9449402 19990101 RGD 631497 Bp98 Blood pressure QTL 98 qtl DOID:10763 hypertension IDA D RGD:619642|PMID:9449402 19990101 RGD 631498 Bp100 Blood pressure QTL 100 qtl DOID:10763 hypertension IAGP D RGD:619655|PMID:9171954 19990101 RGD 631499 Stl1 Serum triglyceride level QTL 1 qtl DOID:2349 arteriosclerosis IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631499 Stl1 Serum triglyceride level QTL 1 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631500 Bp99 Blood pressure QTL 99 qtl DOID:10763 hypertension IDA D RGD:619650|PMID:7852741 19990101 RGD 631501 Bp101 Blood pressure QTL 101 qtl DOID:10763 hypertension IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631502 Cm26 Cardiac mass QTL 26 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:619658|PMID:11045938 19990101 RGD 631503 Bp102 Blood pressure QTL 102 qtl DOID:10763 hypertension IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631504 Cm27 Cardiac mass QTL 27 qtl DOID:10763 hypertension IDA D RGD:619658|PMID:11045938 19990101 RGD 631504 Cm27 Cardiac mass QTL 27 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:619658|PMID:11045938 19990101 RGD 631505 Bp103 Blood pressure QTL 103 qtl DOID:10763 hypertension IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631506 Bp104 Blood pressure QTL 104 qtl DOID:10763 hypertension IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631507 Bp105 Blood pressure QTL 105 qtl DOID:10763 hypertension IDA D RGD:619651|PMID:11403354 19990101 RGD 631507 Bp105 Blood pressure QTL 105 qtl DOID:9003936 Cardiomegaly IDA D RGD:619651|PMID:11403354 19990101 RGD 631508 Sald1 Serum aldosterone level QTL 1 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631509 Sald2 Serum aldosterone level QTL 2 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631510 Spl2 Serum phospholipid level QTL 2 qtl DOID:1168 familial hyperlipidemia IDA D RGD:629577|PMID:12482837 19990101 RGD 631510 Spl2 Serum phospholipid level QTL 2 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631511 Pia7 Pristane induced arthritis QTL 7 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:629570|PMID:11090241 19990101 RGD 631512 Scl6 Serum cholesterol level QTL 6 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631512 Scl6 Serum cholesterol level QTL 6 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:629577|PMID:12482837 19990101 RGD 631513 Scl7 Serum cholesterol level QTL 7 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631513 Scl7 Serum cholesterol level QTL 7 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:629577|PMID:12482837 19990101 RGD 631514 Scl8 Serum cholesterol level QTL8 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631514 Scl8 Serum cholesterol level QTL8 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:629577|PMID:12482837 19990101 RGD 631515 Bw10 Body weight QTL 10 qtl DOID:9970 obesity IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631516 Gluco31 Glucose level QTL 31 qtl DOID:4195 hyperglycemia IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631517 Scl9 Serum cholesterol level QTL 9 qtl DOID:2349 arteriosclerosis IDA D RGD:629577|PMID:12482837 19990101 RGD 631517 Scl9 Serum cholesterol level QTL 9 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:629577|PMID:12482837 19990101 RGD 631518 Bw11 Body weight QTL 11 qtl DOID:9970 obesity IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631519 Pia11 Pristane induced arthritis QTL 11 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:631225|PMID:12111642 19990101 RGD 631520 Bp73 Blood pressure QTL 73 qtl DOID:10763 hypertension IDA D RGD:631320|PMID:12661916 19990101 RGD 631520 Bp73 Blood pressure QTL 73 qtl DOID:10763 hypertension IDA D RGD:70380|PMID:11773968 19990101 RGD 631521 Pia12 Pristane induced arthritis QTL 12 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:631225|PMID:12111642 19990101 RGD 631522 Bp74 Blood pressure QTL 74 qtl DOID:10763 hypertension IDA D RGD:70380|PMID:11773968 19990101 RGD 631523 Pia13 Pristane induced arthritis QTL 13 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:631225|PMID:12111642 19990101 RGD 631524 Bp75 Blood pressure QTL 75 qtl DOID:10763 hypertension IDA D RGD:70460|PMID:11919686 19990101 RGD 631525 Pia14 Pristane induced arthritis QTL 14 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:631225|PMID:12111642 19990101 RGD 631526 Bp76 Blood pressure QTL 76 qtl DOID:10763 hypertension IDA D RGD:619625|PMID:9607182 19990101 RGD 631527 Tls1 T-lymphoma susceptibility QTL 1 qtl DOID:0081312 T-cell non-Hodgkin lymphoma IAGP D RGD:619600|PMID:10360666 19990101 RGD 631528 Scl11 Serum cholesterol level QTL 11 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:619656|PMID:11414700 19990101 RGD compared to Wild/K strain 631529 Tls2 T-lymphoma susceptibility QTL 2 qtl DOID:0081312 T-cell non-Hodgkin lymphoma IAGP D RGD:619600|PMID:10360666 19990101 RGD 631530 Tls3 T-lymphoma susceptibility QTL 3 qtl DOID:0081312 T-cell non-Hodgkin lymphoma IAGP D RGD:619600|PMID:10360666 19990101 RGD 631531 Iresp2 Immunoglobin response QTL2 qtl DOID:1205 allergic disease IDA D RGD:619646|PMID:10898507 19990101 RGD 631532 Cm50 Cardiac mass QTL 50 qtl DOID:10763 hypertension IDA D RGD:619631|PMID:10051321 19990101 RGD 631533 Iresp3 Immunoglobin response QTL3 qtl DOID:1205 allergic disease IDA D RGD:619646|PMID:10898507 19990101 RGD 631534 Lnnr1 Liver neoplastic nodule remodeling QTL 1 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629574|PMID:12672032 19990101 RGD 631535 Cm51 Cardiac mass QTL 51 qtl DOID:10763 hypertension IDA D RGD:619631|PMID:10051321 19990101 RGD 631536 Lnnr2 Liver neoplastic nodule remodeling QTL 2 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629574|PMID:12672032 19990101 RGD 631537 Oia4 Oil induced arthritis QTL 4 qtl DOID:9002457 Experimental Arthritis IDA D RGD:62404|PMID:11230175 19990101 RGD 631538 Oia5 Oil induced arthritis QTL 5 qtl DOID:9002457 Experimental Arthritis IDA D RGD:62404|PMID:11230175 19990101 RGD 631539 Oia6 Oil induced arthritis QTL 6 qtl DOID:9002457 Experimental Arthritis IDA D RGD:62404|PMID:11230175 19990101 RGD 631540 Bw9 Body weight QTL 9 qtl DOID:9970 obesity IAGP D RGD:619631|PMID:10051321 19990101 RGD 631541 Bp81 Blood pressure QTL 81 qtl DOID:10763 hypertension IDA D RGD:619631|PMID:10051321 19990101 RGD 631542 Bp82 Blood pressure QTL 82 qtl DOID:10763 hypertension IDA D RGD:619631|PMID:10051321 19990101 RGD 631543 Bp83 Blood pressure QTL 83 qtl DOID:10763 hypertension IDA D RGD:619631|PMID:10051321 19990101 RGD 631544 Bp84 Blood pressure QTL 84 qtl DOID:10763 hypertension IDA D RGD:619634|PMID:10604486 19990101 RGD 631545 Bp85 Blood pressure QTL 85 qtl DOID:10763 hypertension IDA D RGD:619634|PMID:10604486 19990101 RGD 631546 Bp86 Blood pressure QTL 86 qtl DOID:10763 hypertension IDA D RGD:619634|PMID:10604486 19990101 RGD 631547 Bp87 Blood pressure QTL 87 qtl DOID:10763 hypertension IDA D RGD:619634|PMID:10604486 19990101 RGD 631548 Bp88 Blood pressure QTL 88 qtl DOID:10763 hypertension IDA D RGD:619643|PMID:10523340 19990101 RGD 631549 Bp89 Blood pressure QTL 89 qtl DOID:10763 hypertension IDA D RGD:619635|PMID:10779121 19990101 RGD 631550 Bw7 Body weight QTL 7 qtl DOID:9970 obesity IAGP D RGD:629577|PMID:12482837 19990101 RGD 631551 Vetf1 Vascular elastic tissue fragility QTL 1 qtl DOID:1936 atherosclerosis IDA D RGD:619605|PMID:11526202 19990101 RGD 631552 Vetf2 Vascular elastic tissue fragility QTL 2 qtl DOID:1936 atherosclerosis IDA D RGD:619605|PMID:11526202 19990101 RGD 631554 Bp133 Blood pressure QTL 133 qtl DOID:10763 hypertension IAGP D RGD:619633|PMID:7568016 19990101 RGD 631555 Bp134 Blood pressure QTL 134 qtl DOID:10763 hypertension IAGP D RGD:619633|PMID:7568016 19990101 RGD 631556 Bp135 Blood pressure QTL 135 qtl DOID:10763 hypertension IDA D RGD:631181|PMID:8476428 19990101 RGD 631557 Bp136 Blood pressure QTL 136 qtl DOID:10763 hypertension IDA D RGD:628510|PMID:11641286 19990101 RGD 631558 Bp137 Blood pressure QTL 137 qtl DOID:10763 hypertension IDA D RGD:628510|PMID:11641286 19990101 RGD 631559 Hcuc1 Hepatic copper content QTL 1 qtl DOID:409 liver disease IAGP D RGD:619607|PMID:11741328 19990101 RGD 631559 Hcuc1 Hepatic copper content QTL 1 qtl DOID:893 Wilson disease IAGP D RGD:619607|PMID:11741328 19990101 RGD 631560 Apr1 Acute phase response QTL 1 qtl DOID:7148 rheumatoid arthritis IDA D RGD:629561|PMID:11817600 19990101 RGD 631561 Hcuc2 Hepatic copper content QTL 2 qtl DOID:409 liver disease IAGP D RGD:619607|PMID:11741328 19990101 RGD 631561 Hcuc2 Hepatic copper content QTL 2 qtl DOID:893 Wilson disease IAGP D RGD:619607|PMID:11741328 19990101 RGD 631562 Apr2 Acute phase response QTL 2 qtl DOID:7148 rheumatoid arthritis IDA D RGD:629561|PMID:11817600 19990101 RGD 631563 Hcuc3 Hepatic copper content QTL 3 qtl DOID:409 liver disease IAGP D RGD:629572|PMID:12094018 19990101 RGD 631563 Hcuc3 Hepatic copper content QTL 3 qtl DOID:893 Wilson disease IAGP D RGD:629572|PMID:12094018 19990101 RGD 631564 Apr3 Acute phase response QTL 3 qtl DOID:7148 rheumatoid arthritis IDA D RGD:629561|PMID:11817600 19990101 RGD 631565 Hcuc4 Hepatic copper content QTL 4 qtl DOID:409 liver disease IAGP D RGD:629572|PMID:12094018 19990101 RGD 631565 Hcuc4 Hepatic copper content QTL 4 qtl DOID:893 Wilson disease IAGP D RGD:629572|PMID:12094018 19990101 RGD 631566 Bp90 Blood pressure QTL 90 qtl DOID:10763 hypertension IDA D RGD:619640|PMID:9541488 19990101 RGD 631567 Bp91 Blood pressure QTL 91 qtl DOID:10763 hypertension IDA D RGD:619640|PMID:9541488 19990101 RGD 631568 Bp92 Blood pressure QTL 92 qtl DOID:10763 hypertension IDA D RGD:61516|PMID:11015598 19990101 RGD 631569 Bp93 Blood pressure QTL 93 qtl DOID:10763 hypertension IDA D RGD:68885|PMID:11160999 19990101 RGD 631570 Bp94 Blood pressure QTL 94 qtl DOID:10763 hypertension IDA D RGD:68885|PMID:11160999 19990101 RGD 631572 SBH/Ygl Sabra hypertension prone strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:629619|PMID:12045297 20200813 RGD in males, compared to SBH/Ygl control, salt-loaded SBN/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:629619|PMID:12045297 20101208 RGD compared to SBN/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:1312 focal segmental glomerulosclerosis severity IAGP XCO:0000112 D RGD:629619|PMID:12045297 20200410 RGD compared to uninephrectomized SBN/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:576 proteinuria IAGP XCO:0000112 D RGD:629619|PMID:12045297 20200813 RGD compared to SBH/Ygl control 631572 SBH/Ygl Sabra hypertension prone strain DOID:576 proteinuria MODEL: control IAGP D RGD:629619|PMID:12045297 20200813 RGD compared to salt-loaded SBH/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:576 proteinuria MODEL: induced IAGP XCO:0000022 D RGD:625550|PMID:8906515 20200813 RGD in males, compared to SBH/Ygl control, salt-loaded SBN/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:576 proteinuria MODEL: induced IAGP XCO:0000022 D RGD:629619|PMID:12045297 20200813 RGD in males, compared to SBH/Ygl control, salt-loaded SBN/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:576 proteinuria severity IAGP D RGD:629619|PMID:12045297 20101208 RGD compared to SBN/Ygl 631572 SBH/Ygl Sabra hypertension prone strain DOID:576 proteinuria severity IAGP XCO:0000112 D RGD:629619|PMID:12045297 20200813 RGD in females, compared to SBH/Ygl control 631573 SBN/Ygl Sabra hypertension resistant strain DOID:1312 focal segmental glomerulosclerosis sexual_dimorphism IAGP XCO:0000112 D RGD:629619|PMID:12045297 20200813 RGD in males, compared to SBN/Ygl control 631573 SBN/Ygl Sabra hypertension resistant strain DOID:576 proteinuria IAGP D RGD:629619|PMID:12045297 20200813 RGD 631573 SBN/Ygl Sabra hypertension resistant strain DOID:576 proteinuria MODEL: control IAGP XCO:0000022 D RGD:629619|PMID:12045297 20200813 RGD compared to salt-loaded SBH/Ygl 631573 SBN/Ygl Sabra hypertension resistant strain DOID:576 proteinuria severity IAGP XCO:0000112 D RGD:629619|PMID:12045297 20200813 RGD compared to SBN/Ygl control 631573 SBN/Ygl Sabra hypertension resistant strain DOID:9351 diabetes mellitus MODEL: control IAGP XCO:0000014 D RGD:8552897|PMID:24192394 20200205 RGD compared to CDS/Ygl 631577 SHR/Izm strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:619658|PMID:11045938 19990101 RGD compared to LEW/CrlCrlj strain 631577 SHR/Izm strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:619658|PMID:11045938 20200108 RGD compared to LEW/CrlCrlj strain 631579 LEW/OlaHsd strain DOID:1168 familial hyperlipidemia induced IAGP XCO:0000246,XCO:0000025 D RGD:629577|PMID:12482837 20200408 RGD 631579 LEW/OlaHsd strain DOID:9000808 Hypercholesterolemia induced IAGP XCO:0000246,XCO:0000025 D RGD:629577|PMID:12482837 20200408 RGD 631581 LEW.1F strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000263 D RGD:631225|PMID:12111642 20191122 RGD compared to control strain E3 631581 LEW.1F strain DOID:848 arthritis MODEL: induced IAGP XCO:0000263 D RGD:629561|PMID:11817600 20191122 RGD compared to control strain E3 and inducible strain DA/ZtmRhd 631581 LEW.1F strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000263 D RGD:61088|PMID:8909256 20200720 RGD 631581 LEW.1F strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292 D RGD:2306736|PMID:15342198 20200603 RGD 631581 LEW.1F strain DOID:9006647 Experimental Autoimmune Neuritis penetrance IAGP XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 631593 LEW/Rj strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000688 D RGD:7241236|PMID:20368159 20200505 RGD 631594 BN/Rj strain DOID:11111 hydronephrosis MODEL: spontaneous IAGP D RGD:2293631|PMID:18523158 20080616 RGD 631594 BN/Rj strain DOID:2920 membranoproliferative glomerulonephritis induced IAGP XCO:0000369 D RGD:619646|PMID:10898507 19990101 RGD compared to LEW/Rj 631595 LEW.1AV1.DA-(D10Rat92-D10Rat135)/Ubc strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000265 D RGD:61087|PMID:9600974 19990101 RGD compared to LEW.1AV1/Kini 631596 LEW.1AV1.DA-(D10Rat92-D10Wox17)/Ubc strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000280 D RGD:62404|PMID:11230175 19990101 RGD 631597 LEW.1AV1.DA-(D10Wox17-D10Rat135)/Ubc strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000280 D RGD:62404|PMID:11230175 19990101 RGD 631598 LEW.1AV1.DA-(D10Got154-D10Rat135)/Ubc strain DOID:7148 rheumatoid arthritis induced IAGP XCO:0000280 D RGD:62404|PMID:11230175 19990101 RGD 631599 SHRSP/Izm strain DOID:0050851 glomerulosclerosis MODEL: induced IAGP XCO:0000164 D RGD:2302104|PMID:18971556 20200110 RGD compared to SHRSP.WKY/Izm congenics; MMO:0000496 631599 SHRSP/Izm strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000164 D RGD:2302104|PMID:18971556 20200110 RGD compared to SHRSP.WKY/Izm congenics; MMO:0000031 631599 SHRSP/Izm strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1578503|PMID:16239369 20191209 RGD compared to control strain WKY/Izm 631599 SHRSP/Izm strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2296063|PMID:16445571 20080627 RGD as compared to WKY/Izm after sham denervation 631599 SHRSP/Izm strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to Slc:ZUC-Leprfa 631599 SHRSP/Izm strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:730283|PMID:14623828 20191206 RGD compared to control strain WKY/Izm, greater in male, increased with aging 631599 SHRSP/Izm strain DOID:11465 autonomic nervous system disease MODEL: induced IAGP XCO:0000307|XCO:0000158 D RGD:4889147|PMID:21063213 20191216 RGD compared to WKY/Izm 631599 SHRSP/Izm strain DOID:3525 middle cerebral artery infarction MODEL: induced IAGP XCO:0000348 D RGD:1600255|PMID:17327494 20191210 RGD compared to congenic SHRSP.WKY-(D1Wox29-D1Arb21)/Izm, with age 631599 SHRSP/Izm strain DOID:9003968 Stress-Induced Hypertension MODEL: induced IAGP XCO:0000307|XCO:0000158 D RGD:4889147|PMID:21063213 20191216 RGD compared to WKY/Izm 631599 SHRSP/Izm strain DOID:9003968 Stress-Induced Hypertension induced IAGP XCO:0000337 D RGD:1578503|PMID:16239369 20191209 RGD compared to control strain WKY/Izm 631599 SHRSP/Izm strain DOID:9007096 Stroke MODEL: induced IAGP XCO:0000164 D RGD:2302104|PMID:18971556 20200110 RGD compared to SHRSP.WKY/Izm congenics; MMO:0000496 631604 SHR/Snk strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1599588|PMID:17261463 20200120 RGD compared to F344/Snk control strain 631604 SHR/Snk strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:631181|PMID:8476428 20200129 RGD compared to WKY/Snk control strain 631642 Stl2 Serum triglyceride level QTL 2 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:619667|PMID:9633608 19990101 RGD 631643 Bp120 Blood pressure QTL 120 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631645 Bp121 Blood pressure QTL 121 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631646 Stl4 Serum triglyceride level QTL 4 qtl DOID:2018 hyperinsulinism IDA D RGD:631174|PMID:12687333 19990101 RGD 631646 Stl4 Serum triglyceride level QTL 4 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:631174|PMID:12687333 19990101 RGD 631647 Bp122 Blood pressure QTL 122 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631648 Stl5 Serum triglyceride level QTL 5 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:631174|PMID:12687333 19990101 RGD 631649 Bp123 Blood pressure QTL 123 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631650 Stl6 Serum triglyceride level QTL 6 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:631174|PMID:12687333 19990101 RGD 631651 Bp124 Blood pressure QTL 124 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631652 Bp106 Blood pressure QTL 106 qtl DOID:10763 hypertension IDA D RGD:629620|PMID:12566390 19990101 RGD 631653 Bp125 Blood pressure QTL 125 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631654 Bp107 Blood pressure QTL 107 qtl DOID:10763 hypertension IDA D RGD:629620|PMID:12566390 19990101 RGD 631655 Bp126 Blood pressure QTL 126 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631656 Bp108 Blood pressure QTL 108 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631658 Cm7 Cardiac mass QTL 7 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631658 Cm7 Cardiac mass QTL 7 qtl DOID:114 heart disease IDA D RGD:629621|PMID:12775577 19990101 RGD 631660 Hcar1 Hepatocarcinoma resistance QTL 1 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619598|PMID:10493520 19990101 RGD 631662 Hcar2 Hepatocarcinoma resistance QTL 2 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619598|PMID:10493520 19990101 RGD 631663 Bw6 Body weight QTL 6 qtl DOID:9970 obesity IAGP D RGD:629577|PMID:12482837 19990101 RGD 631664 Hcar3 Hepatocarcinoma resistance QTL 3 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619598|PMID:10493520 19990101 RGD 631665 Bw8 Body weight QTL 8 qtl DOID:9970 obesity IAGP D RGD:619631|PMID:10051321 19990101 RGD 631666 Iddm5 Insulin dependent diabetes mellitus QTL 5 qtl DOID:9744 type 1 diabetes mellitus QTM D RGD:625443|PMID:8586150 19990101 RGD 631667 Iddm6 Insulin dependent diabetes mellitus QTL 6 qtl DOID:9744 type 1 diabetes mellitus QTM D RGD:625443|PMID:8586150 19990101 RGD 631668 Iddm7 Insulin dependent diabetes mellitus QTL 7 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:631165|PMID:9080298 19990101 RGD 631669 Iddm9 Insulin dependent diabetes mellitus QTL 9 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:6903877|PMID:9858659 19990101 RGD 631670 Iddm10 Insulin dependent diabetes mellitus QTL 10 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:6903877|PMID:9858659 19990101 RGD 631671 Iddm11 Insulin dependent diabetes mellitus QTL 11 qtl DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:61480|PMID:9892222 20120918 RGD 631671 Iddm11 Insulin dependent diabetes mellitus QTL 11 qtl DOID:9006190 Chronic Pancreatitis IDA D RGD:61480|PMID:9892222 20120918 RGD 631672 Iddm12 Insulin dependent diabetes mellitus QTL 12 qtl DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:61480|PMID:9892222 20120918 RGD 631673 Iddm13 Insulin dependent diabetes mellitus QTL 13 qtl DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:61480|PMID:9892222 19990101 RGD 631674 Iddm14 Insulin dependent diabetes mellitus QTL 14 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:61479|PMID:10535446 19990101 RGD 631675 Iddm15 Insulin dependent diabetes mellitus QTL 15 qtl DOID:9351 diabetes mellitus IAGP D RGD:619685|PMID:11327715 19990101 RGD 631676 Cm8 Cardiac mass QTL 8 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631676 Cm8 Cardiac mass QTL 8 qtl DOID:114 heart disease IDA D RGD:629621|PMID:12775577 19990101 RGD 631678 Cm9 Cardiac mass QTL 9 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631678 Cm9 Cardiac mass QTL 9 qtl DOID:114 heart disease IDA D RGD:629621|PMID:12775577 19990101 RGD 631679 Cm10 Cardiac mass QTL 10 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631679 Cm10 Cardiac mass QTL 10 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:629621|PMID:12775577 19990101 RGD 631680 Cm11 Cardiac mass QTL 11 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631680 Cm11 Cardiac mass QTL 11 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:629621|PMID:12775577 19990101 RGD 631681 Cm12 Cardiac mass QTL 12 qtl DOID:10763 hypertension IDA D RGD:629621|PMID:12775577 19990101 RGD 631681 Cm12 Cardiac mass QTL 12 qtl DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:629621|PMID:12775577 19990101 RGD 631682 Bp115 Blood pressure QTL 115 qtl DOID:10763 hypertension IDA D RGD:629622|PMID:12473864 19990101 RGD 631683 Bp116 Blood pressure QTL 116 qtl DOID:10763 hypertension IDA D RGD:629622|PMID:12473864 19990101 RGD 631684 Bp117 Blood pressure QTL 117 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631685 Bp118 Blood pressure QTL 118 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631686 Bp119 Blood pressure QTL 119 qtl DOID:10763 hypertension IDA D RGD:629623|PMID:12569259 19990101 RGD 631687 Hcas1 Hepatocarcinoma susceptibility QTL 1 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619598|PMID:10493520 19990101 RGD 631688 Hcas2 Hepatocarcinoma susceptibility QTL 2 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619598|PMID:10493520 19990101 RGD 631689 Scl4 Serum cholesterol level QTL 4 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:619667|PMID:9633608 19990101 RGD 631690 Scl5 Serum cholesterol level QTL 5 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:619667|PMID:9633608 19990101 RGD 631690 Scl5 Serum cholesterol level QTL 5 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:619667|PMID:9633608 19990101 RGD 631695 SS/JrRkb strain DOID:9003139 Cardiac Fibrosis IAGP D RGD:629621|PMID:12775577 20201117 RGD on 4% NaCl diet 631696 SHR/FubRkb strain DOID:10763 hypertension sexual_dimorphism IAGP D RGD:1642911|PMID:17953514 20080311 RGD compared to female SHR/FubRkb 631697 BBDP/Hri strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:631165|PMID:9080298 20200302 RGD 631700 BB.SHR-(Gnal-D18Mit9)/K strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:619685|PMID:11327715 19990101 RGD 631827 Alc4 Alcohol consumption QTL 4 qtl DOID:1574 alcohol use disorder IDA D RGD:631230|PMID:10979603 19990101 RGD 631828 Alc5 Alcohol consumption QTL 5 qtl DOID:1574 alcohol use disorder IDA D RGD:724636|PMID:12960747 19990101 RGD 631829 Alc6 Alcohol consumption QTL 6 qtl DOID:1574 alcohol use disorder IDA D RGD:631230|PMID:10979603 19990101 RGD 631830 Alc7 Alcohol consumption QTL 7 qtl DOID:1574 alcohol use disorder IDA D RGD:724636|PMID:12960747 19990101 RGD 631831 Alc8 Alcohol consumption QTL 8 qtl DOID:1574 alcohol use disorder IDA D RGD:631229|PMID:11958543 19990101 RGD 631832 Sach1 Saccharin preference QTL 1 qtl DOID:1574 alcohol use disorder IAGP D RGD:631229|PMID:11958543 19990101 RGD 631835 Scl67 Serum cholesterol level QTL 67 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:619669|PMID:11071303 19990101 RGD 631835 Scl67 Serum cholesterol level QTL 67 qtl DOID:9970 obesity IDA D RGD:619669|PMID:11071303 19990101 RGD 631836 Stl31 Serum triglyceride level QTL 31 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:619669|PMID:11071303 19990101 RGD 631837 Niddm35 Non-insulin dependent diabetes mellitus QTL 35 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:619688|PMID:11723056 19990101 RGD 631838 Niddm36 Non-insulin dependent diabetes mellitus QTL 36 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:619688|PMID:11723056 19990101 RGD 631839 Niddm37 Non-insulin dependent diabetes mellitus QTL 37 qtl DOID:4195 hyperglycemia QTM D RGD:619676|PMID:10218444 19990101 RGD 631839 Niddm37 Non-insulin dependent diabetes mellitus QTL 37 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619676|PMID:10218444 19990101 RGD 631840 Niddm38 Non-insulin dependent diabetes mellitus QTL 38 qtl DOID:4195 hyperglycemia QTM D RGD:619676|PMID:10218444 19990101 RGD 631840 Niddm38 Non-insulin dependent diabetes mellitus QTL 38 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619676|PMID:10218444 19990101 RGD 631841 Niddm39 Non-insulin dependent diabetes mellitus QTL 39 qtl DOID:4195 hyperglycemia QTM D RGD:619676|PMID:10218444 19990101 RGD 631841 Niddm39 Non-insulin dependent diabetes mellitus QTL 39 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619676|PMID:10218444 19990101 RGD 631842 Inf1 Infertility severity QTL 1 qtl DOID:12336 male infertility IAGP D RGD:631224|PMID:10615258 19990101 RGD 631843 Bw116 Body weight QTL 116 qtl DOID:4195 hyperglycemia QTM D RGD:619678|PMID:10373320 19990101 RGD 631843 Bw116 Body weight QTL 116 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619678|PMID:10373320 19990101 RGD 631848 SHR/OlaIpcv strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:619651|PMID:11403354 19990101 RGD compared to SHR.BN-(D2Rat171-D2Arb24)/Ipcv strain 631848 SHR/OlaIpcv strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:631851|PMID:12790759 20200108 RGD compared to SHR.BN-(D5Wox12-D5Wox20)/Ipcv strain 631848 SHR/OlaIpcv strain DOID:10825 essential hypertension MODEL: spontaneous IAGP D RGD:2312571|PMID:19620519 20200423 RGD compared to SHR.BN-(D18Rat113-D18Rat82)/Ipcv strain 631848 SHR/OlaIpcv strain DOID:4195 hyperglycemia MODEL: spontaneous IAGP D RGD:728088|PMID:10925780 20200409 RGD 631848 SHR/OlaIpcv strain DOID:9007692 Insulin Resistance induced IAGP XCO:0000245, XCO:0000244 D RGD:68930|PMID:11175782 20081121 RGD compared to SHR-Tg(Ef1a-Cd36)19Ipcv and SHR-Tg(Ef1a-Cd36)10Ipcv 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:11832 visual epilepsy susceptibility ISO RGD:1552999 D RGD:10043800|PMID:22357852 20150528 RGD 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1350094 D RGD:10043799|PMID:20089533 20180213 RGD mRNA:decreased expression:caudate nucleus 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1552999 D RGD:10043799|PMID:20089533 20150528 RGD mRNA:decreased expression:striatum(mouse) 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:224 transient cerebral ischemia treatment IDA D RGD:10043805|PMID:21278085 20150528 RGD 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350094 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:630 genetic disease ISO RGD:1350094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:684 hepatocellular carcinoma onset IEP D RGD:10002734|PMID:20935162 20150422 RGD protein:increased expression:liver (rat) 632280 Ppp1r9a protein phosphatase 1, regulatory subunit 9A gene DOID:9000641 Pain treatment IDA D RGD:10002735|PMID:20359166 20150422 RGD 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:0050127 sinusitis ISO RGD:733635 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:0060058 lymphoma susceptibility ISO RGD:1552611 D RGD:10043812|PMID:21670604 20150528 RGD 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:733635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:10652 Alzheimer's disease ISO RGD:1552611 D RGD:10043802|PMID:23764848 20150528 RGD protein:decreased expression:cerebral cortex (mouse) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:10652 Alzheimer's disease severity ISO RGD:733635 D RGD:10043802|PMID:23764848 20150528 RGD protein:decreased expression:brain, synaptosome (human) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:14330 Parkinson's disease IEP D RGD:10043801|PMID:18372251 20150528 RGD protein:altered localization:striate nucleus (rat) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:5419 schizophrenia ISO RGD:733635 D RGD:9999381|PMID:15465982 20150416 RGD mRNA:decreased expression:hippocampal formation (human) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:630 genetic disease ISO RGD:733635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:684 hepatocellular carcinoma severity ISO RGD:733635 D RGD:10043803|PMID:23591196 20150528 RGD mRNA, protein:decreased expression:liver (human) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:9001472 Nasal Polyps ISO RGD:733635 D RGD:9999402|PMID:18391768 20150417 RGD associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:9002775 Cognitive Dysfunction IEP D RGD:9999367|PMID:24069387 20150415 RGD protein:decreased expression:hippocampus, insoluble fraction (rat) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:9005172 Lung Neoplasms severity ISO RGD:733635 D RGD:10043809|PMID:21598252 20150528 RGD protein:decreased expression:lung (human) 632281 Ppp1r9b protein phosphatase 1, regulatory subunit 9B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:733635 D RGD:9999401|PMID:23729363 20150417 RGD mRNA, protein:decreased expression:colorectal carcinoma (human) 632282 Mrgprx3 MAS related GPR family member X3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603279 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 632282 Mrgprx3 MAS related GPR family member X3 gene DOID:1059 intellectual disability ISO RGD:1603279 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 632282 Mrgprx3 MAS related GPR family member X3 gene DOID:630 genetic disease ISO RGD:1603279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:0050848 obstructive sleep apnea IEP D RGD:11573409|PMID:26943473 20170530 RGD protein:decreased expression:growth plate: 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:0060180 colitis ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19617644 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:730950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:0080011 bone resorption disease ISO RGD:730950 D RGD:11554173 20180828 CTD CTD Direct Evidence: therapeutic PMID:29477364 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:0080074 neural tube defect ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17400914 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:10808 gastric ulcer ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15177919|PMID:16259727 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:11981 morbid obesity ISO RGD:730950 D RGD:2313745|PMID:19188925 20091013 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:11983 Prader-Willi syndrome ISO RGD:730950 D RGD:12905043|PMID:15057669 20170602 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:11983 Prader-Willi syndrome ISO RGD:730950 D RGD:1642818|PMID:15788704 20071018 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:1287 cardiovascular system disease ISO RGD:730950 D RGD:7242429|PMID:20930430 20130409 RGD In dialysis patients 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:1596 depressive disorder ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:299 adenocarcinoma ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:3021 acute kidney failure ISO RGD:732655 D RGD:7242430|PMID:19625378 20130409 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:3125 multiple endocrine neoplasia IEP D RGD:12904888|PMID:26512025 20170524 RGD protein:increased expression:pancreas,serum: 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:9850083|PMID:19352052 20150326 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730950 D RGD:126925218|PMID:21472143 20210517 RGD DNA:SNP:5'utr: (rs696217) (human) 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:6000 congestive heart failure ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20572026 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:630 genetic disease ISO RGD:730950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:783 end stage renal disease ISO RGD:730950 D RGD:7242553|PMID:18809976 20130410 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:8577 ulcerative colitis ISO RGD:730950 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19617644 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730950 D RGD:2313747|PMID:19046237 20091013 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9001109 Anorexia ISO RGD:730950 D RGD:1642818|PMID:15788704 20071018 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002231 Fetal Growth Retardation disease_progression IEP D RGD:12904883|PMID:20637157 20170524 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002661 Diabetes Complications ISO RGD:730950 D RGD:7242563|PMID:18025762 20130411 RGD protein: decreased expression: serum 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:12905041|PMID:19620309 20170601 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002909 Oxygen-Induced Retinopathy IEP D RGD:12904963|PMID:21642627 20170530 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002955 Nerve Degeneration ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19429016 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis disease_progression IEP D RGD:12907503|PMID:16626506 20170606 RGD mRNA,protein:increased expression:plasma,myocardia: 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:730950 D RGD:12907503|PMID:16626506 20170606 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004009 Reperfusion Injury ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16581065 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004099 Bulimia ISO RGD:730950 D RGD:1642818|PMID:15788704 20071018 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730950 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004484 Sepsis IEP D RGD:12905047|PMID:15155262 20170605 RGD mRNA,protein:decreased expression:aorta,heart, intestine, plasma: 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004657 Weight Gain ISO RGD:730950 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:33301842 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17407494 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732655 D RGD:2313750|PMID:18657539 20091013 RGD protein:increased expression:plasma 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus disease_progression IEP D RGD:12905048|PMID:23965296 20170605 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:1625021|PMID:16204371 20070517 RGD DNA:polymorphisms 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:2313748|PMID:18996292 20091013 RGD associated with Kidney Diseases;protein:decreased expression:serum 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:7242555|PMID:18552255 20130410 RGD In peritoneal dialysis patients 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia disease_progression IEP D RGD:12907503|PMID:16626506 20170606 RGD mRNA,protein:increased expression:plasma,myocardia: 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:730950 D RGD:12907503|PMID:16626506 20170606 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17347304 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:7242556|PMID:12576449 20130410 RGD 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007661 Dwarfism ISO RGD:730950 D RGD:12904881|PMID:20861603 20170524 RGD protein:increased expression:serum: 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730950 D RGD:2313749|PMID:18848536 20091013 RGD DNA:polymorphism: :p.L72M (human) 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9743 diabetic neuropathy ISO RGD:730950 D RGD:2313744|PMID:19733151 20091013 RGD associated with Diabetes Mellitus, Experimental 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9970 obesity ISO RGD:730950 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9970 obesity ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 632283 Ghrl ghrelin and obestatin prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:730950 D RGD:7240710 20230505 OMIM 632284 Mrgprx1 MAS related GPR family member X1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603278 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 632284 Mrgprx1 MAS related GPR family member X1 gene DOID:1059 intellectual disability ISO RGD:1603278 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 632284 Mrgprx1 MAS related GPR family member X1 gene DOID:630 genetic disease ISO RGD:1603278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:1059 intellectual disability ISO RGD:732952 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:5082 liver cirrhosis ISO RGD:732952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:630 genetic disease ISO RGD:732952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:9001488 Human Influenza ISO RGD:732952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23129053 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 632286 Slc22a8 solute carrier family 22 member 8 gene DOID:9452 fatty liver disease ISO RGD:732952 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 634305 Mamtr1 Mammary tumor resistance QTL 1 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:631852|PMID:12844486 19990101 RGD 634306 Bp140 Blood pressure QTL 140 qtl DOID:10763 hypertension IDA D RGD:631322|PMID:11924719 19990101 RGD 634307 Bp141 Blood pressure QTL 141 qtl DOID:10763 hypertension IAGP D RGD:631324|PMID:10523818 19990101 RGD 634310 Bp142 Blood pressure QTL 142 qtl DOID:10763 hypertension IAGP D RGD:631324|PMID:10523818 19990101 RGD 634312 Bp143 Blood pressure QTL 143 qtl DOID:10763 hypertension IDA D RGD:631325|PMID:11984003 19990101 RGD 634313 Niddm43 Non-insulin dependent diabetes mellitus QTL 43 qtl DOID:10603 glucose intolerance IDA D RGD:619677|PMID:10580437 19990101 RGD 634314 Niddm44 Non-insulin dependent diabetes mellitus QTL 44 qtl DOID:10603 glucose intolerance IDA D RGD:619677|PMID:10580437 19990101 RGD 634315 Niddm45 Non-insulin dependent diabetes mellitus QTL 45 qtl DOID:4195 hyperglycemia QTM D RGD:619678|PMID:10373320 19990101 RGD 634315 Niddm45 Non-insulin dependent diabetes mellitus QTL 45 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619678|PMID:10373320 19990101 RGD 634317 Bw117 Body weight QTL 117 qtl DOID:9970 obesity IDA D RGD:619678|PMID:10373320 19990101 RGD 634318 Bw118 Body weight QTL 118 qtl DOID:9970 obesity IAGP D RGD:619678|PMID:10373320 19990101 RGD 634319 Bw119 Body weight QTL 119 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:619678|PMID:10373320 19990101 RGD 634319 Bw119 Body weight QTL 119 qtl DOID:9970 obesity IAGP D RGD:619678|PMID:10373320 19990101 RGD 634320 Niddm49 Non-insulin dependent diabetes mellitus QTL 49 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:619678|PMID:10373320 19990101 RGD 634321 Hc1 Hypercalciuria QTL 1 qtl DOID:9002315 Kidney Calculi IDA D RGD:631855|PMID:12819244 19990101 RGD 634322 Bw12 Body weight QTL 12 qtl DOID:9970 obesity IAGP D RGD:619682|PMID:11414764 19990101 RGD 634323 Hc2 Hypercalciuria QTL 2 qtl DOID:9002315 Kidney Calculi IDA D RGD:631855|PMID:12819244 19990101 RGD 634325 Bw13 Body weight QTL 13 qtl DOID:2018 hyperinsulinism IDA D RGD:619682|PMID:11414764 19990101 RGD 634325 Bw13 Body weight QTL 13 qtl DOID:4989 pancreatitis IDA D RGD:619682|PMID:11414764 19990101 RGD 634326 Hc3 Hypercalciuria QTL 3 qtl DOID:9002315 Kidney Calculi IDA D RGD:631855|PMID:12819244 19990101 RGD 634327 Hc4 Hypercalciuria QTL 4 qtl DOID:9002315 Kidney Calculi IDA D RGD:631855|PMID:12819244 19990101 RGD 634328 Hc5 Hypercalciuria QTL 5 qtl DOID:9002315 Kidney Calculi IDA D RGD:631855|PMID:12819244 19990101 RGD 634329 Pia15 Pristane induced arthritis QTL 15 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 634330 Pia16 Pristane induced arthritis QTL 16 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 634331 Pia17 Pristane induced arthritis QTL 17 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 634332 Pia18 Pristane induced arthritis QTL 18 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 634333 Pia19 Pristane induced arthritis QTL 19 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 634334 Xhs3 X-ray hypersensitivity QTL 3 qtl DOID:9000855 Experimental Radiation Injuries IDA D RGD:631318|PMID:11381618 20130725 RGD 634335 Anxrr16 Anxiety related response QTL 16 qtl DOID:2030 anxiety disorder IAGP D RGD:631324|PMID:10523818 19990101 RGD 634336 Anxrr17 Anxiety related response QTL 17 qtl DOID:2030 anxiety disorder IAGP D RGD:631324|PMID:10523818 19990101 RGD 634338 Hcar4 Hepatocarcinoma resistance QTL 4 qtl DOID:684 hepatocellular carcinoma IDA D RGD:619609|PMID:10850431 19990101 RGD 634338 Hcar4 Hepatocarcinoma resistance QTL 4 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619609|PMID:10850431 20121015 RGD 634339 Niddm50 Non-insulin dependent diabetes mellitus QTL 50 qtl DOID:4195 hyperglycemia QTM D RGD:619678|PMID:10373320 19990101 RGD 634339 Niddm50 Non-insulin dependent diabetes mellitus QTL 50 qtl DOID:9352 type 2 diabetes mellitus QTM D RGD:619678|PMID:10373320 19990101 RGD 634340 Hcar5 Hepatocarcinoma resistance QTL 5 qtl DOID:684 hepatocellular carcinoma IDA D RGD:619609|PMID:10850431 19990101 RGD 634340 Hcar5 Hepatocarcinoma resistance QTL 5 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619609|PMID:10850431 20121015 RGD 634341 Bw121 Body weight QTL 121 qtl DOID:9970 obesity IDA D RGD:619678|PMID:10373320 19990101 RGD 634342 Cia24 Collagen induced arthritis QTL 24 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61066|PMID:10857786 19990101 RGD 634343 Hcar6 Hepatocarcinoma resistance QTL 6 qtl DOID:684 hepatocellular carcinoma IDA D RGD:619609|PMID:10850431 19990101 RGD 634343 Hcar6 Hepatocarcinoma resistance QTL 6 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619609|PMID:10850431 20121015 RGD 634344 Hcar7 Hepatocarcinoma resistance QTL 7 qtl DOID:684 hepatocellular carcinoma IDA D RGD:619609|PMID:10850431 19990101 RGD 634344 Hcar7 Hepatocarcinoma resistance QTL 7 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619609|PMID:10850431 20121015 RGD 634346 Insul4 Insulin level QTL 4 qtl DOID:2018 hyperinsulinism IDA D RGD:619682|PMID:11414764 19990101 RGD 634346 Insul4 Insulin level QTL 4 qtl DOID:4989 pancreatitis IDA D RGD:619682|PMID:11414764 19990101 RGD 634347 Hcar8 Hepatocarcinoma resistance QTL 8 qtl DOID:684 hepatocellular carcinoma IDA D RGD:619609|PMID:10850431 19990101 RGD 634347 Hcar8 Hepatocarcinoma resistance QTL 8 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:619609|PMID:10850431 20121015 RGD 634348 Bp138 Blood pressure QTL 138 qtl DOID:10763 hypertension IDA D RGD:631321|PMID:12358148 19990101 RGD 634349 Bp139 Blood pressure QTL 139 qtl DOID:10763 hypertension IAGP D RGD:631851|PMID:12790759 19990101 RGD 634350 Apr4 Acute phase response QTL 4 qtl DOID:7148 rheumatoid arthritis IDA D RGD:629561|PMID:11817600 19990101 RGD 634351 Apr5 Acute phase response QTL 5 qtl DOID:7148 rheumatoid arthritis IDA D RGD:629561|PMID:11817600 19990101 RGD 634352 Apr6 Acute phase response QTL 6 qtl DOID:7148 rheumatoid arthritis IDA D RGD:629561|PMID:11817600 19990101 RGD 634353 Rends2 Renal damage susceptibility QTL 2 qtl DOID:783 end stage renal disease IDA D RGD:631854|PMID:12874092 19990101 RGD 634354 Rends3 Renal damage susceptibility QTL 3 qtl DOID:783 end stage renal disease IDA D RGD:631854|PMID:12874092 19990101 RGD 634355 Rends4 Renal damage susceptibility QTL 4 qtl DOID:783 end stage renal disease IDA D RGD:631854|PMID:12874092 19990101 RGD 634363 LEW/NIcoCrlf strain DOID:1574 alcohol use disorder resistance IAGP D RGD:1598390|PMID:16923148 20061121 RGD 634363 LEW/NIcoCrlf strain DOID:2030 anxiety disorder MODEL: spontaneous IAGP D RGD:4109649|PMID:9821556 20200414 RGD sexual_dimorphism;compared to SHR/NIcoCrlf strain 634363 LEW/NIcoCrlf strain DOID:2030 anxiety disorder MODEL: spontaneous IAGP D RGD:631324|PMID:10523818 20200414 RGD sexual_dimorphism;compared to SHR/NIcoCrlf strain 634364 SHR/NIcoCrlf strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:4109649|PMID:9821556 20200414 RGD compared to LEW/NIcoCrlf strain 634364 SHR/NIcoCrlf strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:631324|PMID:10523818 20200414 RGD compared to LEW/NIcoCrlf strain 634365 SS/Hsd strain DOID:9000808 Hypercholesterolemia MODEL: spontaneous IAGP D RGD:737694|PMID:14739155 19990101 RGD compared to SR/Hsd 634365 SS/Hsd strain DOID:9006599 Hypertriglyceridemia MODEL: spontaneous IAGP D RGD:737694|PMID:14739155 19990101 RGD compared to SR/Hsd 634366 SR/Hsd strain DOID:9000808 Hypercholesterolemia MODEL: control IAGP D RGD:737694|PMID:14739155 19990101 RGD compared to SS/Hsd 634366 SR/Hsd strain DOID:9006599 Hypertriglyceridemia MODEL: control IAGP D RGD:737694|PMID:14739155 19990101 RGD compared to SS/Hsd 634373 DA/ZtmRhd strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000263 D RGD:629561|PMID:11817600 20191122 RGD compared to control strain E3 634373 DA/ZtmRhd strain DOID:7148 rheumatoid arthritis susceptibility IAGP D RGD:2302026|PMID:14674011 20081117 RGD pristane induced 634374 E3/ZtmRhd strain DOID:7148 rheumatoid arthritis MODEL: control IAGP D RGD:628543|PMID:12461526 20220531 RGD compared to DA strain 634374 E3/ZtmRhd strain DOID:7148 rheumatoid arthritis MODEL: control IAGP XCO:0000263 D RGD:629570|PMID:11090241 20191121 RGD compared to induced strain DA/ZtmRhd 634374 E3/ZtmRhd strain DOID:7148 rheumatoid arthritis resistance IAGP XCO:0000263 D RGD:2302026|PMID:14674011 20081117 RGD compared to DA/ZtmRhd 6478680 Anxrr29 Anxiety related response QTL 29 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478684 Anxrr30 Anxiety related response QTL 30 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478686 Anxrr31 Anxiety related response QTL 31 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478693 Anxrr32 Anxiety related response QTL 32 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478700 Anxrr33 Anxiety related response QTL 33 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478718 Anxrr34 Anxiety related response QTL 34 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478720 Alc23 Alcohol consumption QTL 23 qtl DOID:1574 alcohol use disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478724 Anxrr35 Anxiety related response QTL 35 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478728 Anxrr36 Anxiety related response QTL 36 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478733 Anxrr37 Anxiety related response QTL 37 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478737 Anxrr38 Anxiety related response QTL 38 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478740 Anxrr39 Anxiety related response QTL 39 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478743 Anxrr40 Anxiety related response QTL 40 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478745 Anxrr41 Anxiety related response QTL 41 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478748 Anxrr42 Anxiety related response QTL 42 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478754 Anxrr43 Anxiety related response QTL 43 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478757 Anxrr44 Anxiety related response QTL 44 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478760 Anxrr45 Anxiety related response QTL 45 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478763 Anxrr46 Anxiety related response QTL 46 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478766 Anxrr47 Anxiety related response QTL 47 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478769 Anxrr48 Anxiety related response QTL 48 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478772 Anxrr49 Anxiety related response QTL 49 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478775 Anxrr50 Anxiety related response QTL 50 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478778 Anxrr51 Anxiety related response QTL 51 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478782 Anxrr52 Anxiety related response QTL 52 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478785 Anxrr53 Anxiety related response QTL 53 qtl DOID:2030 anxiety disorder IAGP D RGD:6218999|PMID:21516450 20120312 RGD 6478788 STOCK-Tp53tm1(EGFP-Pac)Qly/Rrrc p53 knockout rat strain DOID:9000965 Neoplasm Metastasis IMP D RGD:12792958|PMID:22791818 20170316 RGD 6480210 SHR-Chr 8MWF/Rkb strain DOID:0050851 glomerulosclerosis induced IAGP XCO:0000113 D RGD:6480206|PMID:22108208 20200421 RGD 6480210 SHR-Chr 8MWF/Rkb strain DOID:9001542 Albuminuria induced IAGP XCO:0000100 D RGD:6480206|PMID:22108208 20200421 RGD 6480210 SHR-Chr 8MWF/Rkb strain DOID:9001542 Albuminuria induced IAGP XCO:0000113 D RGD:6480206|PMID:22108208 20200421 RGD 6480218 AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:10003 sensorineural hearing loss IAGP D RGD:6480217|PMID:21915282 20171206 RGD 6480218 AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:10487 Hirschsprung's disease MODEL IAGP D RGD:6480215|PMID:22132166 20120315 RGD 6480218 AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:614 lymphopenia IAGP D RGD:7207471|PMID:22975636 20171206 RGD 6480218 AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:9003546 Total Intestinal Aganglionosis MODEL IAGP D RGD:6480217|PMID:21915282 20120315 RGD 6480218 AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:9005027 Waardenburg Syndrome Type 4 MODEL IAGP D RGD:6480217|PMID:21915282 20120316 RGD 6480218 AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:9005660 Hypopigmentation MODEL IAGP D RGD:10755346|PMID:26796131 20160127 RGD compared to LE/Hkv.AR-Ednrbsl 6480220 LE/Hkv.AR-Ednrbsl Aganglionosis rat strain DOID:10003 sensorineural hearing loss IAGP D RGD:6480217|PMID:21915282 20171206 RGD 6480220 LE/Hkv.AR-Ednrbsl Aganglionosis rat strain DOID:10487 Hirschsprung's disease IAGP D RGD:6480217|PMID:21915282 20120315 RGD 6480220 LE/Hkv.AR-Ednrbsl Aganglionosis rat strain DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480215|PMID:22132166 20120315 RGD 6480220 LE/Hkv.AR-Ednrbsl Aganglionosis rat strain DOID:9005660 Hypopigmentation MODEL: control IAGP D RGD:10755346|PMID:26796131 20160127 RGD compared to AR-Ednrbsl/Hkv 6480223 F344.AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:10003 sensorineural hearing loss IAGP D RGD:6480217|PMID:21915282 20171206 RGD 6480223 F344.AR-Ednrbsl/Hkv Aganglionosis rat strain DOID:10487 Hirschsprung's disease penetrance IAGP D RGD:6480217|PMID:21915282 20120315 RGD 6480225 Gdil1 Gastrointestinal dilation QTL 1 qtl DOID:10487 Hirschsprung's disease IAGP D RGD:6480217|PMID:21915282 20120316 RGD 6480225 Gdil1 Gastrointestinal dilation QTL 1 qtl DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480217|PMID:21915282 20120316 RGD 6480225 Gdil1 Gastrointestinal dilation QTL 1 qtl DOID:9005027 Waardenburg Syndrome Type 4 IAGP D RGD:6480217|PMID:21915282 20120316 RGD 6480773 Gluco64 Glucose level QTL 64 qtl DOID:10603 glucose intolerance IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480777 Insul17 Insulin level QTL 17 qtl DOID:2018 hyperinsulinism IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480777 Insul17 Insulin level QTL 17 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480780 Insul18 Insulin level QTL 18 qtl DOID:2018 hyperinsulinism IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480780 Insul18 Insulin level QTL 18 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480783 Insul19 Insulin level QTL 19 qtl DOID:2018 hyperinsulinism IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480783 Insul19 Insulin level QTL 19 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6480786 Bw97 Body weight QTL 97 qtl DOID:9004657 Weight Gain IAGP D RGD:6893578|PMID:22947656 20131022 RGD 6482243 WI-CitfhJjlo/Rrrc flathead rat strain DOID:10907 microcephaly IAGP D RGD:13204836|PMID:10219263 20170721 RGD 6482243 WI-CitfhJjlo/Rrrc flathead rat strain DOID:1826 epilepsy IAGP D RGD:13204836|PMID:10219263 20170721 RGD 6482247 FDIO/Rrrc strain DOID:9970 obesity MODEL: induced IAGP XCO:0000015,XCO:0000025 D RGD:24922212|PMID:15879056 20200330 RGD compared to standard diet fed rats 6482247 FDIO/Rrrc strain DOID:9970 obesity MODEL: induced IAGP XCO:0000015,XCO:0000025 D RGD:6482246|PMID:12855420 20120420 RGD diet, sexual dimorphism 6482247 FDIO/Rrrc strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:24922212|PMID:15879056 20200330 RGD compared to F344 rats 6482298 MWF/ZtmRrrc Munich Wistar Fromter strain DOID:576 proteinuria treatment IAGP XCO:0000542 D RGD:12910758|PMID:1688888 20210709 RGD 6482680 SD-Tg(MMTV-Erbb2)1UwmRrrc strain DOID:3459 breast carcinoma sexual_dimorphism IMP D RGD:6482679|PMID:12150826 20200310 RGD in males only 6484476 LOC682352 Ig lambda chain V-VI region AR-like gene DOID:0080600 COVID-19 ISO RGD:1345923 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 6484476 LOC682352 Ig lambda chain V-VI region AR-like gene DOID:12849 autistic disorder ISO RGD:1345923 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6484476 LOC682352 Ig lambda chain V-VI region AR-like gene DOID:5419 schizophrenia ISO RGD:1345923 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6484581 SS-Resp18em2Mcwi strain DOID:0050855 renal fibrosis IMP D RGD:14348960|PMID:29570433 20190201 RGD 6484581 SS-Resp18em2Mcwi strain DOID:10763 hypertension IMP D RGD:14348960|PMID:29570433 20190201 RGD 6484583 SS-Nr2f2em1Mcwi strain DOID:10763 hypertension IMP D RGD:10401852|PMID:25687237 20171102 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:0050855 renal fibrosis disease_progression IMP D RGD:12911217|PMID:27465994 20200706 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:10603 glucose intolerance IMP D RGD:12911217|PMID:27465994 20200702 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:10763 hypertension disease_progression IMP D RGD:12911217|PMID:27465994 20200702 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:576 proteinuria IMP D RGD:12911217|PMID:27465994 20201210 RGD compared to SS/JrHsdMcwi 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:784 chronic kidney disease IMP D RGD:12911217|PMID:27465994 20201210 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:784 chronic kidney disease IMP D RGD:34888223|PMID:32390513 20201210 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:9970 obesity IMP D RGD:12911217|PMID:27465994 20200702 RGD 6484701 Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:9970 obesity disease_progression IMP D RGD:12911217|PMID:27465994 20201210 RGD 6484719 SS-Leprem2Mcwi strain DOID:0050855 renal fibrosis disease_progression IMP D RGD:12911217|PMID:27465994 20191216 RGD 6484719 SS-Leprem2Mcwi strain DOID:10763 hypertension disease_progression IMP D RGD:12911217|PMID:27465994 20170707 RGD 6484719 SS-Leprem2Mcwi strain DOID:576 proteinuria IMP D RGD:12911217|PMID:27465994 20170707 RGD compared to SS/JrHsdMcwi 6484719 SS-Leprem2Mcwi strain DOID:784 chronic kidney disease MODEL: spontaneous IMP D RGD:12911217|PMID:27465994 20200706 RGD 6484719 SS-Leprem2Mcwi strain DOID:784 chronic kidney disease MODEL: spontaneous IMP D RGD:34888223|PMID:32390513 20200706 RGD 6484719 SS-Leprem2Mcwi strain DOID:9970 obesity disease_progression IMP D RGD:12911217|PMID:27465994 20170707 RGD 6484896 Cd79a CD79a molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346600 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 6484896 Cd79a CD79a molecule gene DOID:0080600 COVID-19 ISO RGD:1346600 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 6484896 Cd79a CD79a molecule gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:25741868|PMID:28492532 6484896 Cd79a CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:7240710 20190327 OMIM 6484896 Cd79a CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:10525050|PMID:11920841|PMID:16199547|PMID:17576681|PMID:24481606|PMID:24728327|PMID:25741868|PMID:28492532|PMID:33046446|PMID:9536098 6484896 Cd79a CD79a molecule gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 6484896 Cd79a CD79a molecule gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 6484896 Cd79a CD79a molecule gene DOID:2340 craniosynostosis ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 6484896 Cd79a CD79a molecule gene DOID:2583 agammaglobulinemia ISO RGD:1346600 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 6484896 Cd79a CD79a molecule gene DOID:5419 schizophrenia ISO RGD:1346600 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6484896 Cd79a CD79a molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1346600 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 6484896 Cd79a CD79a molecule gene DOID:630 genetic disease ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 6484896 Cd79a CD79a molecule gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 6484896 Cd79a CD79a molecule gene DOID:9269 maple syrup urine disease ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 6485223 MUC3A mucin 3A, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736898 D RGD:9068941 20230518 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 6485223 MUC3A mucin 3A, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:736898 D RGD:9068941 20230518 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 6485223 Muc3a mucin 3A, cell surface associated gene DOID:1324 lung cancer ISO RGD:736898 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Lung cancer 6485223 Muc3a mucin 3A, cell surface associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736898 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 6485223 Muc3a mucin 3A, cell surface associated gene DOID:5409 lung small cell carcinoma ISO RGD:736898 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma 6485345 Cimip3 ciliary microtubule inner protein 3 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1318644 D RGD:8554872 20200721 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 6485345 Cimip3 ciliary microtubule inner protein 3 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1318644 D RGD:9068941 20200716 RGD autosomal dominant cone dystrophy 3, OMIM:602093 DNA:point mutation:exon:A319G -> amino acid Y99C PMID:9425234|REF_RGD_ID:1599353 6486258 Insm1 INSM transcriptional repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319934 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 6486258 Insm1 INSM transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1319934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6486589 LOC100912483 uncharacterized LOC100912483 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:2299982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 6486589 LOC100912483 uncharacterized LOC100912483 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:2299982 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 6486589 LOC100912483 uncharacterized LOC100912483 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:2299982 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 6486589 LOC100912483 uncharacterized LOC100912483 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:2299982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 6486649 H4c3 H4 clustered histone 3 gene DOID:1059 intellectual disability ISO RGD:1352928 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:28920961 6486649 H4c3 H4 clustered histone 3 gene DOID:10907 microcephaly ISO RGD:1352928 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:28920961 6486649 H4c3 H4 clustered histone 3 gene DOID:9005356 Tessadori-van Haaften Neurodevelopmental Syndrome 1 ISO RGD:1352928 D RGD:7240710 20220330 OMIM 6486649 H4c3 H4 clustered histone 3 gene DOID:9005356 Tessadori-van Haaften Neurodevelopmental Syndrome 1 ISO RGD:1352928 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1 PMID:15808514|PMID:19818714|PMID:25741868|PMID:28920961 6486649 H4c3 H4 clustered histone 3 gene DOID:9006257 Growth Disorders ISO RGD:1352928 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:28920961 6486649 H4c3 H4 clustered histone 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352928 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:28920961 6486791 Nmrk2 nicotinamide riboside kinase 2 gene DOID:13938 amenorrhea ISO RGD:1344874 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 6486791 Nmrk2 nicotinamide riboside kinase 2 gene DOID:630 genetic disease ISO RGD:1344874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6486824 Rtl9 retrotransposon Gag like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352806 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6486824 Rtl9 retrotransposon Gag like 9 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1352806 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 6486824 Rtl9 retrotransposon Gag like 9 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1352806 D RGD:8554872 20171212 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 6486824 Rtl9 retrotransposon Gag like 9 gene DOID:12849 autistic disorder ISO RGD:1352806 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6486824 Rtl9 retrotransposon Gag like 9 gene DOID:5419 schizophrenia ISO RGD:1352806 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6486824 Rtl9 retrotransposon Gag like 9 gene DOID:630 genetic disease ISO RGD:1352806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6486974 Nynrin NYN domain and retroviral integrase containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 6486974 Nynrin NYN domain and retroviral integrase containing gene DOID:630 genetic disease ISO RGD:1345252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6486974 Nynrin NYN domain and retroviral integrase containing gene DOID:687 hepatoblastoma ISO RGD:1345252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 6486974 Nynrin NYN domain and retroviral integrase containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 6486974 Nynrin NYN domain and retroviral integrase containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345252 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 6487214 LOC100912356 interferon alpha-1-like gene DOID:1793 pancreatic cancer ISO RGD:1352508 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:15320962 6487214 LOC100912356 interferon alpha-1-like gene DOID:1909 melanoma ISO RGD:1352508 D RGD:11554173 20211214 CTD CTD Direct Evidence: therapeutic PMID:16809738 6487214 LOC100912356 interferon alpha-1-like gene DOID:5419 schizophrenia ISO RGD:1352508 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6487214 LOC100912356 interferon alpha-1-like gene DOID:630 genetic disease ISO RGD:1352508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6487218 Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1350721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 6487218 Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:630 genetic disease ISO RGD:1350721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6487302 Tcaf2 TRPM8 channel-associated factor 2 gene DOID:630 genetic disease ISO RGD:1603511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6487551 LOC100912290 histone H4-like gene DOID:1540 parathyroid carcinoma ISO RGD:1605451 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 6487551 LOC100912290 histone H4-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605451 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1603336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1603336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:0080942 anauxetic dysplasia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:1603336 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:1603336 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 6487582 Enho energy homeostasis associated gene DOID:9870 galactosemia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 6487604 LOC100912294 zinc finger protein 709-like gene DOID:0050990 episodic ataxia type 2 ISO RGD:1350882 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 6487604 LOC100912294 zinc finger protein 709-like gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1350882 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 6487604 LOC100912294 zinc finger protein 709-like gene DOID:0111254 glutaric acidemia I ISO RGD:1350882 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 6487604 LOC100912294 zinc finger protein 709-like gene DOID:3413 alpha-mannosidosis ISO RGD:1350882 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 6487604 LOC100912294 zinc finger protein 709-like gene DOID:630 genetic disease ISO RGD:1350882 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6487636 Sox1 SRY-box transcription factor 1 gene DOID:2222 factor X deficiency ISO RGD:1348976 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 6487636 Sox1 SRY-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6487821 H2bc18 H2B clustered histone 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1603451 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 6487821 H2bc18 H2B clustered histone 18 gene DOID:630 genetic disease ISO RGD:1603451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6487821 H2bc18 H2B clustered histone 18 gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1603451 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 6487821 H2bc18 H2B clustered histone 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603451 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 6488215 Leng9 leukocyte receptor cluster member 9 gene DOID:2661 myoepithelioma ISO RGD:1317999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 6488215 Leng9 leukocyte receptor cluster member 9 gene DOID:630 genetic disease ISO RGD:1317999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6488256 Tro trophinin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605121 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6488256 Tro trophinin gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1605121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 6488256 Tro trophinin gene DOID:12849 autistic disorder ISO RGD:1605121 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6488256 Tro trophinin gene DOID:630 genetic disease ISO RGD:1605121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6488322 LOC100912195 protein BEX1-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348519 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6488322 LOC100912195 protein BEX1-like gene DOID:12849 autistic disorder ISO RGD:1348519 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6488322 LOC100912195 protein BEX1-like gene DOID:630 genetic disease ISO RGD:1348519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6488422 Prcd photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:7240710 20141015 OMIM 6488422 Prcd photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 6488422 Prcd photoreceptor disc component gene DOID:10584 retinitis pigmentosa ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 6488422 Prcd photoreceptor disc component gene DOID:630 genetic disease ISO RGD:1603415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 6488422 Prcd photoreceptor disc component gene DOID:8501 fundus dystrophy ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 6488464 Itprip inositol 1,4,5-trisphosphate receptor interacting protein gene DOID:630 genetic disease ISO RGD:1344498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6488546 Mia2 MIA SH3 domain ER export factor 2 gene DOID:630 genetic disease ISO RGD:1351524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6488546 Mia2 MIA SH3 domain ER export factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 6489147 Zfp113 zinc finger protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348770 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 6489147 Zfp113 zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1348770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6489440 Hoxd8 homeobox D8 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 6489440 Hoxd8 homeobox D8 gene DOID:630 genetic disease ISO RGD:1351859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6489478 Rps27a ribosomal protein S27a gene DOID:630 genetic disease ISO RGD:736388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6489478 Rps27a ribosomal protein S27a gene DOID:9000998 Brain Injuries IEP D RGD:11041870|PMID:17936732 20160330 RGD mRNA:decreased expression:cerebral cortex, hippocampus 6489816 Odaph odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:7240710 20140903 OMIM 6489816 Odaph odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 PMID:22901946 6489816 Odaph odontogenesis associated phosphoprotein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 6489816 Odaph odontogenesis associated phosphoprotein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 6489933 Spata31e1 SPATA31 subfamily E, member 1 gene DOID:630 genetic disease ISO RGD:1351279 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6489991 Hoxc11 homeobox C11 gene DOID:630 genetic disease ISO RGD:1313485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6489991 Hoxc11 homeobox C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313485 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 6490353 Seh1l SEH1-like nucleoporin gene DOID:0050591 tooth agenesis ISO RGD:1352568 D RGD:8554872 20200324 ClinVar ClinVar Annotator: match by term: Tooth agenesis 6490353 Seh1l SEH1-like nucleoporin gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352568 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 6490353 Seh1l SEH1-like nucleoporin gene DOID:1059 intellectual disability ISO RGD:1352568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 6490353 Seh1l SEH1-like nucleoporin gene DOID:630 genetic disease ISO RGD:1352568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6490575 Rtl5 retrotransposon Gag like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350874 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6490575 Rtl5 retrotransposon Gag like 5 gene DOID:12849 autistic disorder ISO RGD:1350874 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6490575 Rtl5 retrotransposon Gag like 5 gene DOID:630 genetic disease ISO RGD:1350874 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6490591 Zfp182 zinc finger protein 182 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342789 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6490591 Zfp182 zinc finger protein 182 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 6490591 Zfp182 zinc finger protein 182 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 6490591 Zfp182 zinc finger protein 182 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 6490591 Zfp182 zinc finger protein 182 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 6490591 Zfp182 zinc finger protein 182 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1342789 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 6490591 Zfp182 zinc finger protein 182 gene DOID:12849 autistic disorder ISO RGD:1342789 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6490591 Zfp182 zinc finger protein 182 gene DOID:630 genetic disease ISO RGD:1342789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6490675 C1h9orf57 similar to human chromosome 9 open reading frame 57 gene DOID:630 genetic disease ISO RGD:1342941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6490867 Tshz2 teashirt zinc finger homeobox 2 gene DOID:0080600 COVID-19 ISO RGD:1353516 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 6490867 Tshz2 teashirt zinc finger homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1353516 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 6490867 Tshz2 teashirt zinc finger homeobox 2 gene DOID:13938 amenorrhea ISO RGD:1353516 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 6490867 Tshz2 teashirt zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1353516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6491099 Erich6b glutamate-rich 6B gene DOID:630 genetic disease ISO RGD:1606127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6491130 Actl10 actin-like 10 gene DOID:2843 long QT syndrome ISO RGD:1346529 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 6491130 Actl10 actin-like 10 gene DOID:630 genetic disease ISO RGD:1346529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6491226 Zfp664 zinc finger protein 664 gene DOID:630 genetic disease ISO RGD:1606961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6491729 C17h6orf62 similar to human chromosome 6 open reading frame 62 gene DOID:630 genetic disease ISO RGD:1347069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6492187 Xist X inactive specific transcript gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353468 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6492187 Xist X inactive specific transcript gene DOID:12849 autistic disorder ISO RGD:1353468 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6492187 Xist X inactive specific transcript gene DOID:9001488 Human Influenza ISO RGD:1353468 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 6492187 Xist X inactive specific transcript gene DOID:9002416 X Inactivation, Familial Skewed, 1 ISO RGD:1353468 D RGD:7240710 20220615 OMIM 6492187 Xist X inactive specific transcript gene DOID:9002416 X Inactivation, Familial Skewed, 1 ISO RGD:1353468 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: X inactivation, familial skewed, 1 PMID:8825575|PMID:9354806 6492735 Txnl4a thioredoxin-like 4A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1347193 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 6492735 Txnl4a thioredoxin-like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:11531484|PMID:25434003 20230119 RGD DNA:missense mutations,deletions:promoter, cds: 6492735 Txnl4a thioredoxin-like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:155882456|PMID:28905882 20230119 RGD DNA:deletions:promoter: 6492735 Txnl4a thioredoxin-like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:7240710 20171011 OMIM 6492735 Txnl4a thioredoxin-like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:28492532|PMID:34713892 6492735 Txnl4a thioredoxin-like 4A gene DOID:630 genetic disease ISO RGD:1347193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6492735 Txnl4a thioredoxin-like 4A gene DOID:6420 pulmonary valve stenosis ISO RGD:1347193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 6492735 Txnl4a thioredoxin-like 4A gene DOID:8445 intestinal volvulus ISO RGD:1347193 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 6492735 Txnl4a thioredoxin-like 4A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1347193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:28492532|PMID:34713892 6492735 Txnl4a thioredoxin-like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347193 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 6492735 Txnl4a thioredoxin-like 4A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347193 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1606289 D RGD:8554872 20161025 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25901006 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:7240710 20190315 OMIM 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 PMID:25741868|PMID:25901006 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:14330 Parkinson's disease ISO RGD:1606289 D RGD:13504667|PMID:26605748 20180116 RGD 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3652 Leigh disease ISO RGD:1606289 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:630 genetic disease ISO RGD:1606289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:7240710 20161012 OMIM 6492821 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid PMID:15841082|PMID:25741868 6493177 Agbl4 AGBL carboxypeptidase 4 gene DOID:0060224 atrial fibrillation ISO RGD:1606202 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 6493177 Agbl4 AGBL carboxypeptidase 4 gene DOID:10283 prostate cancer ISO RGD:1606202 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 6493177 Agbl4 AGBL carboxypeptidase 4 gene DOID:303 substance-related disorder ISO RGD:1606202 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 6493177 Agbl4 AGBL carboxypeptidase 4 gene DOID:630 genetic disease ISO RGD:1606202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6493177 Agbl4 AGBL carboxypeptidase 4 gene DOID:9008582 Developmental Disease ISO RGD:1606202 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental disorder 6493372 LOC100911320 zinc finger protein 709-like gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 6493372 LOC100911320 zinc finger protein 709-like gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 6493372 LOC100911320 zinc finger protein 709-like gene DOID:0111254 glutaric acidemia I ISO RGD:1605565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 6493372 LOC100911320 zinc finger protein 709-like gene DOID:3413 alpha-mannosidosis ISO RGD:1605565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 6493372 LOC100911320 zinc finger protein 709-like gene DOID:630 genetic disease ISO RGD:1605565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6493676 LOC100911252 peptidyl-prolyl cis-trans isomerase A-like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:13708576 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 6493676 LOC100911252 peptidyl-prolyl cis-trans isomerase A-like gene DOID:5419 schizophrenia ISO RGD:13708576 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6493686 Ifnl1 interferon, lambda 1 gene DOID:0080600 COVID-19 ameliorates ISO RGD:1347142 D RGD:126848773|PMID:32854108 20210430 RGD human protein in a mouse model 6493686 Ifnl1 interferon, lambda 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 6493686 Ifnl1 interferon, lambda 1 gene DOID:12205 dengue disease ameliorates ISO RGD:1347142 D RGD:126848771|PMID:28238051 20210430 RGD protein:increased expression:blood serum (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:12206 dengue hemorrhagic fever ameliorates ISO RGD:1347142 D RGD:126848742|PMID:31981768 20210428 RGD DNA:SNP:enhancer:-1043C>T (rs7247086) (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:1883 hepatitis C ISO RGD:1347142 D RGD:126848746|PMID:24269996 20210428 RGD DNA:missense mutation, haplotype:exon (rs30461) (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:126848770|PMID:25784275 20210430 RGD associated with common cold;mRNA:decreased expression:sputum (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:126848775|PMID:22135341 20210430 RGD associated with common cold;protein:increased expression: nasal cavity (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:321 tropical spastic paraparesis ISO RGD:1347142 D RGD:126848769|PMID:29990995 20210430 RGD associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:630 genetic disease ISO RGD:1347142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6493686 Ifnl1 interferon, lambda 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1347142 D RGD:126848750|PMID:24769671 20210428 RGD human protein and cells in mouse model 6493686 Ifnl1 interferon, lambda 1 gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:1347142 D RGD:126848745|PMID:30077763 20210428 RGD protein:increased expression:blood serum (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347142 D RGD:126848749|PMID:23071503 20210428 RGD mRNA,protein:increased expression:liver, blood serum (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:126848741|PMID:30926417 20210428 RGD protein:increased expression:blood serum (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:126848747|PMID:21145813 20210428 RGD protein:altered expression:blood serum (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:9006081 Osteolysis ameliorates ISO RGD:1347142 D RGD:126848774|PMID:32488049 20210430 RGD associated with Inflammation; human protein in a mouse model 6493686 Ifnl1 interferon, lambda 1 gene DOID:9006928 Viral Bronchiolitis exacerbates ISO RGD:1347142 D RGD:126848743|PMID:24389019 20210428 RGD associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347142 D RGD:126848748|PMID:21957142 20210428 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) 6493686 Ifnl1 interferon, lambda 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 6494165 Znf865 zinc finger protein 865 gene DOID:630 genetic disease ISO RGD:4109409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6494479 LOC100911237 zinc finger protein 420-like gene DOID:630 genetic disease ISO RGD:1343425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6494481 Med7 mediator complex subunit 7 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1321085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 6494481 Med7 mediator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1321085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6494757 Mylk4 myosin light chain kinase family, member 4 gene DOID:2843 long QT syndrome ISO RGD:1604705 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 6494757 Mylk4 myosin light chain kinase family, member 4 gene DOID:630 genetic disease ISO RGD:1604705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6494870 Robo4 roundabout guidance receptor 4 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1345935 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:30455415 6494870 Robo4 roundabout guidance receptor 4 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1345935 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:30455415 6494870 Robo4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:7240710 20210728 OMIM 6494870 Robo4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Aortic valve disease 3 PMID:25741868|PMID:30455415 6494870 Robo4 roundabout guidance receptor 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 6494870 Robo4 roundabout guidance receptor 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345935 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 6494870 Robo4 roundabout guidance receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:1345935 D RGD:243048428|PMID:22262697 20230330 RGD mRNA,protein:increased expression:placenta 6494870 Robo4 roundabout guidance receptor 4 gene DOID:12849 autistic disorder ISO RGD:1345935 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 6494870 Robo4 roundabout guidance receptor 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1345935 D RGD:11554173 20210811 CTD CTD Direct Evidence: marker/mechanism PMID:30455415 6494870 Robo4 roundabout guidance receptor 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 6494870 Robo4 roundabout guidance receptor 4 gene DOID:224 transient cerebral ischemia IEP D RGD:11573340|PMID:26764532 20230330 RGD protein:increased expression:hippocampus 6494870 Robo4 roundabout guidance receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:25741868|PMID:30455415 6494870 Robo4 roundabout guidance receptor 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345935 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 6494870 Robo4 roundabout guidance receptor 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1345935 D RGD:151665104|PMID:32626543 20220310 RGD 6494870 Robo4 roundabout guidance receptor 4 gene DOID:5419 schizophrenia ISO RGD:1345935 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6494870 Robo4 roundabout guidance receptor 4 gene DOID:630 genetic disease ISO RGD:1345935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30455415 6494870 Robo4 roundabout guidance receptor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345935 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 6494870 Robo4 roundabout guidance receptor 4 gene DOID:9007661 Dwarfism ISO RGD:1345935 D RGD:8554872 20210803 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 6494892 Mtfr2 mitochondrial fission regulator 2 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1344625 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 6494892 Mtfr2 mitochondrial fission regulator 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1344625 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 6494892 Mtfr2 mitochondrial fission regulator 2 gene DOID:630 genetic disease ISO RGD:1344625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6495353 Tmem45a transmembrane protein 45A gene DOID:0080600 COVID-19 ISO RGD:1344791 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 6495353 Tmem45a transmembrane protein 45A gene DOID:630 genetic disease ISO RGD:1344791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6495353 Tmem45a transmembrane protein 45A gene DOID:9005172 Lung Neoplasms ISO RGD:1344791 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 6495714 LOC100910996 uncharacterized LOC100910996 gene DOID:630 genetic disease ISO RGD:2303668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6495961 Evi2b ecotropic viral integration site 2B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1347396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:25741868|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 6495961 Evi2b ecotropic viral integration site 2B gene DOID:1969 cerebral palsy ISO RGD:1347396 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 6495961 Evi2b ecotropic viral integration site 2B gene DOID:630 genetic disease ISO RGD:1347396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6495961 Evi2b ecotropic viral integration site 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1347396 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 6496095 Fndc4 fibronectin type III domain containing 4 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1345842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 6496095 Fndc4 fibronectin type III domain containing 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 6496095 Fndc4 fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1345842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496095 Fndc4 fibronectin type III domain containing 4 gene DOID:9455 lipid storage disease ISO RGD:1345842 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 6496100 Derl2 derlin 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1344289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 6496100 Derl2 derlin 2 gene DOID:630 genetic disease ISO RGD:1344289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496122 Oip5-as1 OIP5 antisense RNA 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:5552939 D RGD:151356990|PMID:33760168 20220222 RGD mRNA:increased expression:ovary (human) 6496122 Oip5-as1 OIP5 antisense RNA 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:5552939 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35044041 6496122 Oip5-as1 OIP5 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:5552939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496163 Luzp2 leucine zipper protein 2 gene DOID:1059 intellectual disability ISO RGD:1347178 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 6496163 Luzp2 leucine zipper protein 2 gene DOID:630 genetic disease ISO RGD:1347178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496360 Cfap69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:7240710 20190315 OMIM 6496360 Cfap69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 24 PMID:25741868|PMID:29606301|PMID:30415212 6496360 Cfap69 cilia and flagella associated protein 69 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605631 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 6496360 Cfap69 cilia and flagella associated protein 69 gene DOID:630 genetic disease ISO RGD:1605631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496422 Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 6496422 Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 6496422 Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit gene DOID:630 genetic disease ISO RGD:1350941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496422 Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350941 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 6496422 Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 6496527 Cox7a1 cytochrome c oxidase subunit 7A1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 6496527 Cox7a1 cytochrome c oxidase subunit 7A1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 6496527 Cox7a1 cytochrome c oxidase subunit 7A1 gene DOID:12930 dilated cardiomyopathy ISS RGD:1615204 D RGD:13592920 20180518 MouseDO 6496527 Cox7a1 cytochrome c oxidase subunit 7A1 gene DOID:630 genetic disease ISO RGD:1348243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0050724 PSPH deficiency ISO RGD:1320361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:7240710 20230308 OMIM 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant PMID:25662902|PMID:25741868|PMID:26067110|PMID:26067113|PMID:26561290|PMID:28492532|PMID:32068847 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1320361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1320361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 6496638 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:630 genetic disease ISO RGD:1320361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 6496716 Pvt1 Pvt1 oncogene gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1348372 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27723758 6496716 Pvt1 Pvt1 oncogene gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1348372 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 6496716 Pvt1 Pvt1 oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:1348372 D RGD:153344577|PMID:30205391 20220829 RGD mRNA:increased expression:liver (human) 6496716 Pvt1 Pvt1 oncogene gene DOID:8567 Hodgkin's lymphoma ISO RGD:1348372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 6496716 Pvt1 Pvt1 oncogene gene DOID:9004484 Sepsis IEP D RGD:155883166|PMID:30546393 20230202 RGD RNA:increased expression:myocardium 6496716 Pvt1 Pvt1 oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348372 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35213076 6496746 Trim15 tripartite motif containing 15 gene DOID:11372 megacolon ISO RGD:1322537 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 6496746 Trim15 tripartite motif containing 15 gene DOID:630 genetic disease ISO RGD:1322537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496784 Tmem249 transmembrane protein 249 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 6496784 Tmem249 transmembrane protein 249 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 6496784 Tmem249 transmembrane protein 249 gene DOID:4621 holoprosencephaly ISO RGD:6767351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 6496784 Tmem249 transmembrane protein 249 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:6767351 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 6496811 Lyg2 lysozyme G2 gene DOID:630 genetic disease ISO RGD:1603530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496829 LOC100910814 keratin-associated protein 9-1-like gene DOID:630 genetic disease ISO RGD:1350529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6496829 LOC100910814 keratin-associated protein 9-1-like gene DOID:9002189 High Myopia ISO RGD:1350529 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: High myopia 6497037 Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 6497037 Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 gene DOID:2717 Bloom syndrome ISO RGD:1605977 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 6497037 Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 gene DOID:5419 schizophrenia ISO RGD:1605977 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6497037 Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 gene DOID:630 genetic disease ISO RGD:1605977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497037 Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 gene DOID:9256 colorectal cancer ISO RGD:1605977 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 6497155 Mtg1 mitochondrial ribosome-associated GTPase 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603933 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 6497155 Mtg1 mitochondrial ribosome-associated GTPase 1 gene DOID:630 genetic disease ISO RGD:1603933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497192 Dnttip2 deoxynucleotidyltransferase, terminal, interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497409 Pilra paired immunoglobin-like type 2 receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:1318381 D RGD:11554173 20211116 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 6497409 Pilra paired immunoglobin-like type 2 receptor alpha gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318381 D RGD:8554872 20211116 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 6497409 Pilra paired immunoglobin-like type 2 receptor alpha gene DOID:630 genetic disease ISO RGD:1318381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497573 LOC100910577 zinc finger protein 709-like gene DOID:630 genetic disease ISO RGD:1346753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497573 LOC100910577 zinc finger protein 709-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346753 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 6497608 Spata31c2 SPATA31 subfamily C member 2 gene DOID:630 genetic disease ISO RGD:4109369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497652 Rpl26l1 ribosomal protein L26 like 1 gene DOID:0080600 COVID-19 ISO RGD:1352940 D RGD:9068941 20230413 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 6497652 Rpl26l1 ribosomal protein L26 like 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352940 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 6497652 Rpl26l1 ribosomal protein L26 like 1 gene DOID:630 genetic disease ISO RGD:1352940 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497652 Rpl26l1 ribosomal protein L26 like 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352940 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1318685 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:11054 urinary bladder cancer ISO RGD:1318685 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:12849 autistic disorder ISO RGD:1318685 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:3070 high grade glioma ISO RGD:1318685 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318685 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28914995 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:630 genetic disease ISO RGD:1318685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6497694 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318685 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 6498132 Ccdc180 coiled-coil domain containing 180 gene DOID:10316 pneumoconiosis ISO RGD:4110705 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 6498132 Ccdc180 coiled-coil domain containing 180 gene DOID:1059 intellectual disability ISO RGD:4110705 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 6498132 Ccdc180 coiled-coil domain containing 180 gene DOID:3007 breast ductal carcinoma ISO RGD:4110705 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 6498132 Ccdc180 coiled-coil domain containing 180 gene DOID:630 genetic disease ISO RGD:4110705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6498506 Prss51 serine protease 51 gene DOID:630 genetic disease ISO RGD:6895556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6498506 Prss51 serine protease 51 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6895556 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 6498801 Bbip1 BBSome interacting protein 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:2300355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 6498801 Bbip1 BBSome interacting protein 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:2300355 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia 6498801 Bbip1 BBSome interacting protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:2300355 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:24026985 6498801 Bbip1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:7240710 20141126 OMIM 6498801 Bbip1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 PMID:17576681|PMID:24026985|PMID:25741868|PMID:28492532|PMID:32055034|PMID:32552793|PMID:9536098 6498801 Bbip1 BBSome interacting protein 1 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 6498801 Bbip1 BBSome interacting protein 1 gene DOID:630 genetic disease ISO RGD:2300355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 6499092 Cdr1 cerebellar degeneration related 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345930 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6499092 Cdr1 cerebellar degeneration related 1 gene DOID:12849 autistic disorder ISO RGD:1345930 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6499092 Cdr1 cerebellar degeneration related 1 gene DOID:630 genetic disease ISO RGD:1345930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6499275 Larp4 La ribonucleoprotein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 6499275 Larp4 La ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1603283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6499280 Zim3 zinc finger imprinted 3 gene DOID:630 genetic disease ISO RGD:1352082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6499372 Prss50 serine protease 50 gene DOID:630 genetic disease ISO RGD:1605685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6499372 Prss50 serine protease 50 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 6499485 Zfp82 zinc finger protein 82 gene DOID:630 genetic disease ISO RGD:1345340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6499588 Znf599l-ps1 zinc finger protein 599 like, pseudogene 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 6499588 Znf599l-ps1 zinc finger protein 599 like, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1603572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6499724 Tcim transcriptional and immune response regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1346279 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 6499950 Adam21 ADAM metallopeptidase domain 21 gene DOID:630 genetic disease ISO RGD:1314846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6500065 Catsperb cation channel sperm associated auxiliary subunit beta gene DOID:0080054 achondrogenesis type IA ISO RGD:1345422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 6500065 Catsperb cation channel sperm associated auxiliary subunit beta gene DOID:630 genetic disease ISO RGD:1345422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6500254 S100a2 S100 calcium binding protein A2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 6500254 S100a2 S100 calcium binding protein A2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 6500254 S100a2 S100 calcium binding protein A2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 6500254 S100a2 S100 calcium binding protein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1353498 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 6500254 S100a2 S100 calcium binding protein A2 gene DOID:5812 MHC class II deficiency ISO RGD:1353498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 6500254 S100a2 S100 calcium binding protein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353498 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:2340 craniosynostosis ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:630 genetic disease ISO RGD:1602429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6500398 Znf780b zinc finger protein 780B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:9269 maple syrup urine disease ISO RGD:1602429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 6500398 Znf780b zinc finger protein 780B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 6500406 Gfy golgi-associated, olfactory signaling regulator gene DOID:630 genetic disease ISO RGD:7818825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6500424 Nkrf NFKB repressing factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343355 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6500424 Nkrf NFKB repressing factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 6500424 Nkrf NFKB repressing factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 6500424 Nkrf NFKB repressing factor gene DOID:12849 autistic disorder ISO RGD:1343355 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6500424 Nkrf NFKB repressing factor gene DOID:630 genetic disease ISO RGD:1343355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6500748 LOC100909998 zinc finger protein 2-like gene DOID:630 genetic disease ISO RGD:1320138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6501064 LOC100909954 uncharacterized LOC100909954 gene DOID:2224 essential thrombocythemia ISO RGD:1350098 D RGD:8554872 20151215 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 6501064 LOC100909954 uncharacterized LOC100909954 gene DOID:4971 myelofibrosis ISO RGD:1350098 D RGD:8554872 20151215 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 6501064 LOC100909954 uncharacterized LOC100909954 gene DOID:9119 acute myeloid leukemia ISO RGD:1350098 D RGD:8554872 20151215 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 6501537 Smim18 small integral membrane protein 18 gene DOID:630 genetic disease ISO RGD:7204607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6501695 Kbtbd7 kelch repeat and BTB domain containing 7 gene DOID:13501 Moebius syndrome ISO RGD:1312909 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 6501695 Kbtbd7 kelch repeat and BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1312909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6502210 Zfp239 zinc finger protein 239 gene DOID:630 genetic disease ISO RGD:1351594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6502391 Or10h28 olfactory receptor family 10 subfamily H member 28 gene DOID:630 genetic disease ISO RGD:1344881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6502425 LOC100909688 zinc finger protein 43-like gene DOID:630 genetic disease ISO RGD:1350332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:0050741 alcohol dependence IEP D RGD:14700679|PMID:21309953 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619562 D RGD:14700652|PMID:27920663 20210701 RGD DNA:SNP: :rs28632197, rs35369693 (human) 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:619562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:12849 autistic disorder ISO RGD:619562 D RGD:8554872 20210713 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:1540 parathyroid carcinoma ISO RGD:619562 D RGD:8554872 20210713 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:1596 depressive disorder no_association ISO RGD:619562 D RGD:14700671|PMID:23068076 20210701 RGD associated with bipolar disorder;DNA:SNP: :multiple 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment IMP D RGD:14700666|PMID:24654684 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:62179 D RGD:14700672|PMID:26700241 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment IMP D RGD:14700666|PMID:24654684 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:62179 D RGD:14700676|PMID:21956463 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:3312 bipolar disorder ISO RGD:619562 D RGD:14700651|PMID:24012103 20210701 RGD DNA:SNP: :rs28536160 (human) 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:3324 mood disorder ISO RGD:619562 D RGD:11528373|PMID:23962971 20210701 RGD DNA:SNP: :rs28536160 (human) 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:3324 mood disorder no_association ISO RGD:619562 D RGD:11528373|PMID:23962971 20210701 RGD DNA:SNP: :rs28373064, 35369693, rs28632197 (human) 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:3829 pituitary adenoma ISO RGD:619562 D RGD:14700668|PMID:28692683 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:630 genetic disease ISO RGD:619562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:619562 D RGD:14700670|PMID:23884782 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:619562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:9005158 Cushing Syndrome ISO RGD:619562 D RGD:14700670|PMID:23884782 20210701 RGD 6502812 Avpr1b arginine vasopressin receptor 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619562 D RGD:8554872 20210713 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 6502881 Iqck IQ motif containing K gene DOID:10652 Alzheimer's disease ISO RGD:1605300 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 6502881 Iqck IQ motif containing K gene DOID:630 genetic disease ISO RGD:1605300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6503044 Znf624l zinc finger protein 624 like gene DOID:630 genetic disease ISO RGD:1342948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6503255 Trpc5os TRPC5 opposite strand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5144676 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 6503255 Trpc5os TRPC5 opposite strand gene DOID:12849 autistic disorder ISO RGD:5144676 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6503255 Trpc5os TRPC5 opposite strand gene DOID:5419 schizophrenia ISO RGD:5144676 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6503255 Trpc5os TRPC5 opposite strand gene DOID:630 genetic disease ISO RGD:5144676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6503435 Nhlrc4 NHL repeat containing 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 6503435 Nhlrc4 NHL repeat containing 4 gene DOID:1826 epilepsy ISO RGD:1602637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 6503435 Nhlrc4 NHL repeat containing 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 6503435 Nhlrc4 NHL repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602637 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6503620 Ube2w ubiquitin-conjugating enzyme E2W gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1605362 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 6504274 Fam181a family with sequence similarity 181, member A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 6504274 Fam181a family with sequence similarity 181, member A gene DOID:0081063 DICER1 syndrome ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 6504274 Fam181a family with sequence similarity 181, member A gene DOID:630 genetic disease ISO RGD:1319141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6504280 Zfp397 zinc finger protein 397 gene DOID:1059 intellectual disability ISO RGD:1314512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 6504280 Zfp397 zinc finger protein 397 gene DOID:630 genetic disease ISO RGD:1314512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6504299 Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:5688458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 6504299 Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:12849 autistic disorder ISO RGD:5688458 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 6504299 Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:5419 schizophrenia ISO RGD:5688458 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 6504353 Chadl chondroadherin-like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:2292054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 6504353 Chadl chondroadherin-like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 6504353 Chadl chondroadherin-like gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:2292054 D RGD:8554872 20180116 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 6504353 Chadl chondroadherin-like gene DOID:630 genetic disease ISO RGD:2292054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6504353 Chadl chondroadherin-like gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2292054 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28319091|PMID:30374069 6504372 Mipol1 mirror-image polydactyly 1 gene DOID:1148 polydactyly ISO RGD:1344580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11954550 6504372 Mipol1 mirror-image polydactyly 1 gene DOID:12859 choreatic disease ISO RGD:1344580 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 6504372 Mipol1 mirror-image polydactyly 1 gene DOID:630 genetic disease ISO RGD:1344580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 6504372 Mipol1 mirror-image polydactyly 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 67366 Pla2g4a phospholipase A2 group IVA gene DOID:0080322 polycystic kidney disease IEP D RGD:1642471|PMID:12490538 20070918 RGD protein:increased expression:kidney 67366 Pla2g4a phospholipase A2 group IVA gene DOID:0080820 occupational asthma ISO RGD:735872 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 67366 Pla2g4a phospholipase A2 group IVA gene DOID:11394 adult respiratory distress syndrome ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10881173 67366 Pla2g4a phospholipase A2 group IVA gene DOID:12849 autistic disorder ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15301788 67366 Pla2g4a phospholipase A2 group IVA gene DOID:1540 parathyroid carcinoma ISO RGD:735872 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 67366 Pla2g4a phospholipase A2 group IVA gene DOID:1724 duodenal ulcer ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 67366 Pla2g4a phospholipase A2 group IVA gene DOID:2218 blood platelet disease ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 67366 Pla2g4a phospholipase A2 group IVA gene DOID:2316 brain ischemia IEP D RGD:1642465|PMID:15306117 20070918 RGD mRNA:increased expression:hippocampus 67366 Pla2g4a phospholipase A2 group IVA gene DOID:2615 papilloma IEP D RGD:1642457|PMID:16621493 20070918 RGD associated with Bladder Neoplasms;mRNA:increased expression:bladder 67366 Pla2g4a phospholipase A2 group IVA gene DOID:2671 transitional cell carcinoma IEP D RGD:1642457|PMID:16621493 20070918 RGD mRNA:increased expression:bladder 67366 Pla2g4a phospholipase A2 group IVA gene DOID:2723 dermatitis ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18287786 67366 Pla2g4a phospholipase A2 group IVA gene DOID:2841 asthma IEP D RGD:1642462|PMID:15557087 20070918 RGD 67366 Pla2g4a phospholipase A2 group IVA gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15816863 67366 Pla2g4a phospholipase A2 group IVA gene DOID:4195 hyperglycemia IDA D RGD:1642443|PMID:7635966 20070917 RGD protein:increased activity:vascular associated smooth muscle cell 67366 Pla2g4a phospholipase A2 group IVA gene DOID:630 genetic disease ISO RGD:735872 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 67366 Pla2g4a phospholipase A2 group IVA gene DOID:655 inherited metabolic disorder ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:7240710 20190424 OMIM 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS | ClinVar Annotator: match by term: PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF PMID:18451993|PMID:23268370|PMID:25102815|PMID:25741868|PMID:28492532 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9000972 Fever IEP D RGD:1642453|PMID:16933973 20070918 RGD protein:increased phosphorylation:lung 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1642445|PMID:17459512 20070917 RGD protein:increased activity:liver 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9002211 Hyperalgesia IMP D RGD:1642461|PMID:16203828 20070918 RGD 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration IEP D RGD:1642469|PMID:14664823 20070918 RGD 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:11116 D RGD:6482738|PMID:18718965 20120430 RGD 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9004009 Reperfusion Injury IDA D RGD:1642456|PMID:1642455 20070918 RGD protein:increased activity:alveolar macrophage 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9004484 Sepsis IDA D RGD:1642481|PMID:9879654 20070918 RGD protein:increased activity:liver 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9005372 Inflammation IMP D RGD:1642446|PMID:17305324 20070917 RGD 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9006646 Metabolic Syndrome IEP D RGD:6482748|PMID:21172452 20120501 RGD mRNA:decreased expression:liver 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9007730 Burns IEP D RGD:1642444|PMID:17483741 20070917 RGD protein:increased expression:heart 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9008939 Breast Neoplasms ISO RGD:735872 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21119660 67366 Pla2g4a phospholipase A2 group IVA gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735872 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 67376 Sds serine dehydratase gene DOID:630 genetic disease ISO RGD:734053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67376 Sds serine dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252794 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10973654|PMID:11196452|PMID:12050213|PMID:12050224|PMID:15585552|PMID:18252794|PMID:21340167|PMID:22579964|PMID:24033266|PMID:25211449|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31950145|PMID:34055358|PMID:34628416|PMID:7633460|PMID:7651769|PMID:8004103|PMID:8060486 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318588 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10763 hypertension IEP D RGD:1599701|PMID:16116051 20101206 RGD mRNA:increased expression:hypothalamus (rat) 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14764821 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11383 cryptorchidism ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:12700 hyperprolactinemia IEP D RGD:4889559|PMID:8027581 20101206 RGD mRNA:increased expression:skin (rat) 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:3070 high grade glioma ISO RGD:1318588 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:630 genetic disease ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17823934 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22356824 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:7240710 20160615 OMIM 67377 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency PMID:10486704|PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10843183|PMID:10973654|PMID:11196452|PMID:11287026|PMID:1196451|PMID:12050213|PMID:12050224|PMID:1363812|PMID:14966389|PMID:16648810|PMID:17689071|PMID:1825279|PMID:18252794|PMID:22343390|PMID:22579964|PMID:24033266|PMID:25741868|PMID:26021573|PMID:26288759|PMID:26467025|PMID:2755580|PMID:27626911|PMID:27796263|PMID:27899157|PMID:28207417|PMID:28492532|PMID:28870780|PMID:295036|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31611844|PMID:31950145|PMID:34055358|PMID:4539073|PMID:7633460|PMID:8060486|PMID:8185809|PMID:8316254|PMID:9719627 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:0050700 cardiomyopathy ISO RGD:734022 D RGD:40924663|PMID:23462508 20210119 RGD mRNA, protein:alternative form, increased expression:heart 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:0050933 ovarian serous carcinoma disease_progression ISO RGD:734022 D RGD:40907066|PMID:25455994 20210112 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:734022 D RGD:40907062|PMID:24296270 20210112 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:734022 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:10652 Alzheimer's disease IEP D RGD:40925918|PMID:31028587 20210121 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:11260 rabies ISO RGD:736988 D RGD:40907065|PMID:9696812 20210112 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:1459 hypothyroidism IEP D RGD:2326028|PMID:20412599 20100617 RGD protein:increased expression:hippocampus 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:1596 depressive disorder treatment IEP D RGD:13703051|PMID:29217494 20210121 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734022 D RGD:2326074|PMID:11249065 20100621 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734022 D RGD:2326075|PMID:10374842 20100621 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:3073 brain glioblastoma multiforme disease_progression ISO RGD:734022 D RGD:40924672|PMID:20219118 20210119 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:3312 bipolar disorder ISO RGD:734022 D RGD:1358750|PMID:15050861 19990101 RGD DNA:snps:introns:IVS6+32T>C, IVS7+11G>C, IVS12+21C>A (human) 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment IMP D RGD:40925919|PMID:29497380 20210121 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:734022 D RGD:40924633|PMID:32962079 20210114 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:3892 insulinoma ISO RGD:734022 D RGD:2326080|PMID:8972754 20100621 RGD protein:increased expression:pancreas 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:4947 cholangiocarcinoma ISO RGD:734022 D RGD:2326079|PMID:12031086 20100621 RGD associated with hepatitis 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:734022 D RGD:40925920|PMID:30664618 20210121 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734022 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction IEP D RGD:40924663|PMID:23462508 20210119 RGD protein:alternative form, increased expression:myocardium 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:736988 D RGD:2325979|PMID:19853610 20100616 RGD mRNA, protein:increased expression:heart 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:6000 congestive heart failure IEP D RGD:2325979|PMID:19853610 20100616 RGD mRNA, protein:increased expression:heart 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:734022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:657 adenoma ISO RGD:734022 D RGD:2326070|PMID:15100237 20100621 RGD protein:increased expression:gallbladder 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:734022 D RGD:2326070|PMID:15100237 20100621 RGD protein:increased expression:epithelial cell 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:734022 D RGD:40924632|PMID:28529158 20210114 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736988 D RGD:2326067|PMID:10086383 20100621 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:40924670|PMID:17064783 20210119 RGD protein:decreased expression:hippocampus 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:734022 D RGD:2326076|PMID:9851639 20100621 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:734022 D RGD:2326077|PMID:8501910 20100621 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:734022 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734022 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9004332 Osteoarthritis, Experimental IEP D RGD:40924673|PMID:31742919 20210119 RGD protein:decreased expression:skeletal joint 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734022 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:736988 D RGD:2326023|PMID:18757519 20230223 RGD 67378 Ncam1 neural cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734022 D RGD:2326066|PMID:15714132 20100621 RGD protein:increased expression:pancreatic islet 67379 Acaa1a acetyl-CoA acyltransferase 1A gene DOID:0050451 Brugada syndrome ISO RGD:69012 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 67379 Acaa1a acetyl-CoA acyltransferase 1A gene DOID:630 genetic disease ISO RGD:69012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67379 Acaa1a acetyl-CoA acyltransferase 1A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313044|PMID:17632588 20090908 RGD mRNA:increased expression:heart 67379 Acaa1a acetyl-CoA acyltransferase 1A gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:69012 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 67380 Mbl2 mannose binding lectin 2 gene DOID:0050073 invasive aspergillosis ISO RGD:735547 D RGD:8693758|PMID:17311505 20140722 RGD DNA:SNP:exon:rs5030737(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7707811 67380 Mbl2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:8693694|PMID:22444663 20140718 RGD DNA:haplotype,SNP:promoter: 67380 Mbl2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent no_association ISO RGD:735547 D RGD:11530059|PMID:16494622 20160823 RGD associated with Precursor T-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:0050144 Kartagener syndrome severity ISO RGD:735547 D RGD:11250592|PMID:24753481 20170626 RGD DNA:haplotype:promoter: 67380 Mbl2 mannose binding lectin 2 gene DOID:0050697 chorioamnionitis susceptibility ISO RGD:735547 D RGD:12910932|PMID:15723707 20170628 RGD DNA:polymorphism:exon:p.G54D(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:735547 D RGD:8693711|PMID:16487239 20140718 RGD DNA:SNP:intron:1011G>A(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:0080159 cryptococcal meningitis susceptibility ISO RGD:735547 D RGD:12910861|PMID:21592999 20170627 RGD associated with HIV Infections;DNA:polymorphism:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:735547 D RGD:12910847|PMID:24850777 20170627 RGD DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:735547 D RGD:4889467|PMID:15838797 20101202 RGD Severe Acute Respiratory Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:735547 D RGD:8693695|PMID:23246423 20140718 RGD DNA:SNP:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:10223 dermatomyositis susceptibility ISO RGD:735547 D RGD:8693750|PMID:12485445 20140722 RGD DNA:polymorphisms:cds:p.G54D,G57E(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:735547 D RGD:11530056|PMID:24453114 20160823 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:10457 Legionnaires' disease susceptibility ISO RGD:735547 D RGD:12910934|PMID:19073229 20170628 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:10652 Alzheimer's disease ISO RGD:735547 D RGD:4889155|PMID:9631454 20101130 RGD protein:decreased expression:cerebrospinal fluid (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735547 D RGD:12910848|PMID:23348713 20170627 RGD DNA:haplotype:promoter: 67380 Mbl2 mannose binding lectin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:735547 D RGD:8693705|PMID:22335808 20140718 RGD protein:increased expression:serum: 67380 Mbl2 mannose binding lectin 2 gene DOID:10754 otitis media ISO RGD:735547 D RGD:8693692|PMID:16750996 20140718 RGD DNA:haplotype,SNP:promoter,exons: 67380 Mbl2 mannose binding lectin 2 gene DOID:10887 lepromatous leprosy susceptibility ISO RGD:735547 D RGD:8694069|PMID:20650301 20140723 RGD DNA:SNP:cds:161G>A (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:11162 respiratory failure ISO RGD:735547 D RGD:4889496|PMID:18582923 20101203 RGD DNA:mutations:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:735547 D RGD:4889476|PMID:17133182 20101202 RGD DNA:missense mutation:exon:p.G54N (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:735547 D RGD:12910846|PMID:22882323 20170627 RGD associated with Premature Birth;DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:11714 gestational diabetes ISO RGD:735547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15472209 67380 Mbl2 mannose binding lectin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735547 D RGD:4889436|PMID:10652157 20101201 RGD DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:12306 vitiligo no_association ISO RGD:735547 D RGD:8693724|PMID:19416237 20140721 RGD DNA:polymorphisms:promoter, exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:12306 vitiligo susceptibility ISO RGD:735547 D RGD:8693723|PMID:17337399 20140721 RGD DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:12375 bronchopneumonia ISO RGD:735547 D RGD:4889483|PMID:19804807 20101202 RGD associated with Down Syndrome; protein:decreased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:12554 hemolytic-uremic syndrome treatment ISO RGD:735547 D RGD:11530050|PMID:27378476 20160823 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:12716 newborn respiratory distress syndrome disease_progression ISO RGD:735547 D RGD:12910849|PMID:25879044 20170627 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:735547 D RGD:4889577|PMID:11474427 20101207 RGD Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:735547 D RGD:8693711|PMID:16487239 20140718 RGD DNA:SNP:intron:1011G>A(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:735547 D RGD:4889433|PMID:19959685 20101201 RGD DNA:polymorphisms:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:13241 Behcet's disease severity ISO RGD:735547 D RGD:1582155|PMID:15693089 20061102 RGD protein:decreased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735547 D RGD:1582154|PMID:15730518 20061102 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:13375 temporal arteritis ISO RGD:735547 D RGD:8693752|PMID:12375325 20140722 RGD DNA:polymorphism:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:13378 Kawasaki disease ISO RGD:731472 D RGD:8693744|PMID:24721319 20140722 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:735547 D RGD:8693748|PMID:15144709 20140722 RGD DNA:polymorphism:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:13450 coccidioidomycosis ISO RGD:735547 D RGD:4889458|PMID:19083122 20101202 RGD protein:decreased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:13564 aspergillosis susceptibility ISO RGD:731472 D RGD:8694071|PMID:20064561 20140723 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:735547 D RGD:11530064|PMID:18396436 20160824 RGD DNA:haplotype:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:14115 toxic shock syndrome ISO RGD:735547 D RGD:6903268|PMID:17202308 20120928 RGD associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple 67380 Mbl2 mannose binding lectin 2 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple PMID:17202308|REF_RGD_ID:6903268 67380 Mbl2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10071515|PMID:10449435|PMID:15674393|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22377282|PMID:22940091|PMID:24753481|PMID:25178872|PMID:28492532|PMID:7707811|PMID:8206524 67380 Mbl2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:4889443|PMID:16879250 20101201 RGD protein:decreased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:4889447|PMID:10449435 20101202 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:1564 fungal infectious disease treatment ISO RGD:735547 D RGD:11530048|PMID:24886325 20160823 RGD associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:1588 thrombocytopenia susceptibility ISO RGD:735547 D RGD:11530042|PMID:18361938 20160822 RGD associated with Dengue;DNA:SNP:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:1733 cryptosporidiosis susceptibility ISO RGD:735547 D RGD:12910843|PMID:19827946 20170627 RGD DNA:polymorphisms, haplotype:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:14696815|PMID:19703233 20190729 RGD DNA:SNP:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:14696832|PMID:20570631 20190731 RGD DNA:SNPs, haplotype:promoter, exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:735547 D RGD:14696834|PMID:16231358 20190731 RGD DNA:haplotype:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:2272 vulvovaginal candidiasis ISO RGD:735547 D RGD:8693700|PMID:17470593 20140718 RGD DNA:SNP:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:2297 leptospirosis severity ISO RGD:735547 D RGD:6903260|PMID:19330263 20120928 RGD protein:increased expression:serum 67380 Mbl2 mannose binding lectin 2 gene DOID:2394 ovarian cancer ISO RGD:735547 D RGD:12910855|PMID:25038892 20170627 RGD mRNA:increased expression:ovary: 67380 Mbl2 mannose binding lectin 2 gene DOID:2394 ovarian cancer susceptibility ISO RGD:735547 D RGD:12910855|PMID:25038892 20170627 RGD DNA:polymorphisms,haplotype:exon,promoter: 67380 Mbl2 mannose binding lectin 2 gene DOID:2799 bronchiolitis obliterans resistance ISO RGD:735547 D RGD:4889456|PMID:19104434 20101202 RGD DNA:transversion:5' utr:-290C>G rs7096206 (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:2841 asthma ISO RGD:735547 D RGD:8693709|PMID:22512728 20140718 RGD associated with Bronchiolitis;DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:2841 asthma susceptibility ISO RGD:735547 D RGD:12910828|PMID:22674410 20170626 RGD DNA:SNP:cds:p.G54D(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:735547 D RGD:4889452|PMID:19199550 20101202 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:4889421|PMID:20688922 20101201 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:4889448|PMID:19411612 20101202 RGD protein:decreased secretion:lung (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735547 D RGD:8693720|PMID:20642202 20140721 RGD DNA:polymorphisms:promoter, exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:735547 D RGD:12910826|PMID:24856568 20170626 RGD DNA:haplotype: : 67380 Mbl2 mannose binding lectin 2 gene DOID:3385 bacterial vaginosis ISO RGD:735547 D RGD:8693700|PMID:17470593 20140718 RGD DNA:SNP:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:341 peripheral vascular disease susceptibility ISO RGD:735547 D RGD:1582151|PMID:15295097 20061102 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735547 D RGD:4889479|PMID:18637104 20101202 RGD associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:409 liver disease ISO RGD:735547 D RGD:4889446|PMID:19467940 20101202 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:4247 coronary restenosis susceptibility ISO RGD:735547 D RGD:1582150|PMID:15790942 20061102 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:735547 D RGD:8693717|PMID:18831943 20140721 RGD DNA:polymorphism: : 67380 Mbl2 mannose binding lectin 2 gene DOID:5082 liver cirrhosis severity ISO RGD:735547 D RGD:14696832|PMID:20570631 20190731 RGD associated with hepatitis C; DNA:haplotype:promoter, exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:735547 D RGD:14696836|PMID:26857650 20190731 RGD associated with hepatitis B;DNA:SNP:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16960176 67380 Mbl2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease no_association ISO RGD:735547 D RGD:12910931|PMID:26348711 20170628 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:735547 D RGD:12910857|PMID:19796822 20170627 RGD DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:552 pneumonia ISO RGD:735547 D RGD:4889459|PMID:18988662 20101202 RGD protein:increased secretion:lung (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:552 pneumonia ISO RGD:735547 D RGD:8693755|PMID:15249448 20140722 RGD protein:increased expression:Bronchoalveolar lavage: 67380 Mbl2 mannose binding lectin 2 gene DOID:57 aortic valve insufficiency susceptibility ISO RGD:735547 D RGD:12910860|PMID:18400978 20170627 RGD associated with Rheumatic Fever;DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:574 peripheral nervous system disease ISO RGD:735547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 67380 Mbl2 mannose binding lectin 2 gene DOID:594 panic disorder susceptibility ISO RGD:735547 D RGD:12910826|PMID:24856568 20170626 RGD DNA:polymorphism: : 67380 Mbl2 mannose binding lectin 2 gene DOID:630 genetic disease ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67380 Mbl2 mannose binding lectin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735547 D RGD:12910845|PMID:18334024 20170627 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:735547 D RGD:14696835|PMID:27557564 20190731 RGD protein:decreased expression:plasma 67380 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:735547 D RGD:14696829|PMID:18221301 20190731 RGD associated with viral hepatitis;DNA:polymorphisms:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735547 D RGD:14696813|PMID:21733090 20190729 RGD associated with hepatitis C;DNA:SNP: :221C>G(rs709620)(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:14696814|PMID:27298104 20190729 RGD associated with hepatitis B-related cirrhosis;DNA:SNP: :rs11003123(G>A)(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:14696833|PMID:25787238 20190731 RGD DNA:SNPs:promoter:rs7096206(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:14696836|PMID:26857650 20190731 RGD associated with hepatitis B;DNA:SNP:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:14696815|PMID:19703233 20190729 RGD associated with hepatitis C;DNA:SNP:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:8693703|PMID:22360648 20140718 RGD DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:783 end stage renal disease ISO RGD:735547 D RGD:6903261|PMID:16801331 20120928 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphisms 67380 Mbl2 mannose binding lectin 2 gene DOID:853 polymyalgia rheumatica ISO RGD:735547 D RGD:8693752|PMID:12375325 20140722 RGD DNA:polymorphism:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:8566 herpes simplex ISO RGD:735547 D RGD:8693727|PMID:15498041 20140721 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:8566 herpes simplex disease_progression ISO RGD:735547 D RGD:8693727|PMID:15498041 20140721 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:8566 herpes simplex susceptibility ISO RGD:735547 D RGD:8693725|PMID:19480845 20140721 RGD DNA:polymorphism:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:874 bacterial pneumonia ISO RGD:735547 D RGD:4889477|PMID:18641104 20101202 RGD Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:735547 D RGD:12910842|PMID:21702710 20170627 RGD DNA:polymorphisms:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:8893 psoriasis susceptibility ISO RGD:735547 D RGD:8693722|PMID:23113841 20140721 RGD DNA:polymorphism:cds: 67380 Mbl2 mannose binding lectin 2 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:7240710 20171011 OMIM 67380 Mbl2 mannose binding lectin 2 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mannose-binding lectin deficiency PMID:10071515|PMID:10449435|PMID:10888598|PMID:1303250|PMID:1304173|PMID:14568388|PMID:1458688|PMID:15472209|PMID:15674393|PMID:15829288|PMID:16395391|PMID:1675710|PMID:16885193|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22363494|PMID:22377282|PMID:22940091|PMID:24033266|PMID:24753481|PMID:25178872|PMID:25741868|PMID:28492532|PMID:29210071|PMID:33116287|PMID:7707811|PMID:8206524 67380 Mbl2 mannose binding lectin 2 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:731472 D RGD:12910935|PMID:18183030 20170628 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9001472 Nasal Polyps ISO RGD:735547 D RGD:4889484|PMID:19593977 20101202 RGD associated with Sinusitis; protein:increased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9001665 Aneurysm ISO RGD:735547 D RGD:1582153|PMID:16385529 20061102 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735547 D RGD:4889478|PMID:12047967 20101202 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9002106 Pneumococcal Pneumonia no_association ISO RGD:735547 D RGD:4889477|PMID:18641104 20101202 RGD DNA:mutations:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia disease progression ISO RGD:735547 D RGD:11530056|PMID:24453114 20160823 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:11530041|PMID:24819208 20160822 RGD associated with leukemia; 67380 Mbl2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:11530043|PMID:20930093 20160822 RGD associated with Neoplasms;DNA:SNP,haplotyep:promoter: 67380 Mbl2 mannose binding lectin 2 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735547 D RGD:11530044|PMID:20172753 20160822 RGD associated with Anemia, Sickle Cell;DNA:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:735547 D RGD:8693746|PMID:17335555 20140722 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:735547 D RGD:12910825|PMID:18927129 20170626 RGD DNA:polymorphisms:multiple: 67380 Mbl2 mannose binding lectin 2 gene DOID:9003507 Premature Birth ISO RGD:735547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16912583 67380 Mbl2 mannose binding lectin 2 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:735547 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 67380 Mbl2 mannose binding lectin 2 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:735547 D RGD:11530049|PMID:25482922 20160823 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9003996 Birth Weight ISO RGD:735547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20923744 67380 Mbl2 mannose binding lectin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731472 D RGD:6903263|PMID:15509537 20120928 RGD protein:increased expression:serum 67380 Mbl2 mannose binding lectin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735547 D RGD:6903262|PMID:15882434 20120928 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:11076743|PMID:25956563 20190801 RGD DNA:haplotype:promoter, exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:14696820|PMID:18336595 20190729 RGD DNA:SNPs:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9004272 Varicose Ulcer ISO RGD:735547 D RGD:8694068|PMID:19997692 20140723 RGD protein:decreased expression:serum: 67380 Mbl2 mannose binding lectin 2 gene DOID:9004422 Chagas Cardiomyopathy severity ISO RGD:735547 D RGD:11076757|PMID:26745156 20170626 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:735547 D RGD:12910846|PMID:22882323 20170627 RGD associated with Premature Birth;DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9004562 Smoke Inhalation Injury ISO RGD:735547 D RGD:4889448|PMID:19411612 20101202 RGD mouse model 67380 Mbl2 mannose binding lectin 2 gene DOID:9004968 Yin Deficiency treatment IEP D RGD:153350148|PMID:29729385 20220913 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9005036 Bacteremia treatment ISO RGD:735547 D RGD:11530047|PMID:16953214 20160823 RGD associated with Multiple Myeloma:DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735547 D RGD:4889482|PMID:20712489 20140721 RGD DNA:polymorphism: : 67380 Mbl2 mannose binding lectin 2 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735547 D RGD:6903267|PMID:19715891 20120928 RGD DNA:SNP:exon 67380 Mbl2 mannose binding lectin 2 gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735547 D RGD:8693716|PMID:23144819 20140721 RGD protein:decreased activity:serum: 67380 Mbl2 mannose binding lectin 2 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:735547 D RGD:8693703|PMID:22360648 20140718 RGD DNA:polymorphism:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9007417 Pseudomonas Infections onset ISO RGD:735547 D RGD:4889579|PMID:20068595 20101207 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:735547 D RGD:8693755|PMID:15249448 20140722 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9007755 Intestinal Reperfusion Injury severity ISO RGD:735547 D RGD:12910933|PMID:19477015 20170628 RGD DNA:polymorphisms:exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735547 D RGD:11530049|PMID:25482922 20160823 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735547 D RGD:14696831|PMID:27824315 20190731 RGD DNA:haplotype: : 67380 Mbl2 mannose binding lectin 2 gene DOID:9008212 Diabetic Foot ISO RGD:735547 D RGD:8694068|PMID:19997692 20140723 RGD protein:increased expression:serum: 67380 Mbl2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections ISO RGD:735547 D RGD:4889439|PMID:19767106 20101201 RGD DNA:polymorphisms:5' utr, exon:multiple (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:4889453|PMID:19169708 20101202 RGD protein:decreased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:8693755|PMID:15249448 20140722 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:735547 D RGD:6903266|PMID:21510992 20120928 RGD DNA:SNP:exon 67380 Mbl2 mannose binding lectin 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:735547 D RGD:5147979|PMID:11561111 20140722 RGD DNA:SNP,haplotype:cds:p.G54D,G57E(human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:11522692|PMID:26297290 20190731 RGD protein:increased expression:serum: 67380 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:8693721|PMID:17357060 20140721 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:735547 D RGD:8693721|PMID:17357060 20140721 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:11522692|PMID:26297290 20190731 RGD DNA:SNPs,haplotype:promoter,exon: 67380 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:8693726|PMID:22995279 20140721 RGD DNA:polymorphism:promoter: 67380 Mbl2 mannose binding lectin 2 gene DOID:9182 pemphigus ISO RGD:735547 D RGD:8693728|PMID:21327568 20140721 RGD protein:increased expression:skin: 67380 Mbl2 mannose binding lectin 2 gene DOID:9563 bronchiectasis ISO RGD:735547 D RGD:4889425|PMID:20568383 20101201 RGD associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human) 67380 Mbl2 mannose binding lectin 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:735547 D RGD:12910829|PMID:18361935 20170626 RGD 67380 Mbl2 mannose binding lectin 2 gene DOID:9970 obesity ISO RGD:735547 D RGD:4889156|PMID:16955210 20101130 RGD DNA:missense mutations:cds:p.R52C, p.G57E (human) 67382 Klkb1 kallikrein B1 gene DOID:0050589 inflammatory bowel disease IMP D RGD:7327139|PMID:8625762 20130911 RGD 67382 Klkb1 kallikrein B1 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:17962476 67382 Klkb1 kallikrein B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736915 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 67382 Klkb1 kallikrein B1 gene DOID:0060903 thrombosis ISO RGD:736915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 67382 Klkb1 kallikrein B1 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:736915 D RGD:7327150|PMID:19307730 20130912 RGD DNA:SNPs:promoter: 67382 Klkb1 kallikrein B1 gene DOID:10763 hypertension ISO RGD:736915 D RGD:7327151|PMID:12716755 20130912 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: 67382 Klkb1 kallikrein B1 gene DOID:12849 autistic disorder ISO RGD:736915 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 67382 Klkb1 kallikrein B1 gene DOID:2213 hemorrhagic disease ISO RGD:736915 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 67382 Klkb1 kallikrein B1 gene DOID:2229 factor XI deficiency ISO RGD:736915 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 67382 Klkb1 kallikrein B1 gene DOID:2566 corneal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy 67382 Klkb1 kallikrein B1 gene DOID:2921 glomerulonephritis ISO RGD:736915 D RGD:7327152|PMID:2173275 20130912 RGD protein:increased expression:plasma: 67382 Klkb1 kallikrein B1 gene DOID:3410 carotid artery thrombosis ISO RGD:736915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 67382 Klkb1 kallikrein B1 gene DOID:5082 liver cirrhosis IEP D RGD:7297050|PMID:14986822 20130910 RGD 67382 Klkb1 kallikrein B1 gene DOID:630 genetic disease ISO RGD:736915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67382 Klkb1 kallikrein B1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736915 D RGD:7327151|PMID:12716755 20130912 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: 67382 Klkb1 kallikrein B1 gene DOID:9002457 Experimental Arthritis IEP D RGD:7327138|PMID:9783057 20130911 RGD 67382 Klkb1 kallikrein B1 gene DOID:9002457 Experimental Arthritis IMP D RGD:7297047|PMID:22739815 20130910 RGD 67382 Klkb1 kallikrein B1 gene DOID:9002805 Enterocolitis IEP D RGD:7327138|PMID:9783057 20130911 RGD 67382 Klkb1 kallikrein B1 gene DOID:9002805 Enterocolitis IMP D RGD:7327138|PMID:9783057 20130911 RGD 67382 Klkb1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:7240710 20130221 OMIM 67382 Klkb1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: Prekallikrein deficiency PMID:12871337|PMID:14652634|PMID:15461630|PMID:17598838|PMID:19404525|PMID:25741868|PMID:28492532|PMID:32202057|PMID:33073460|PMID:33116287|PMID:34847617 67382 Klkb1 kallikrein B1 gene DOID:9004484 Sepsis IMP D RGD:7297048|PMID:22352684 20130910 RGD 67382 Klkb1 kallikrein B1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:736915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 67382 Klkb1 kallikrein B1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736915 D RGD:7327150|PMID:19307730 20130912 RGD DNA:SNPs:promoter: 67382 Klkb1 kallikrein B1 gene DOID:9477 pulmonary embolism ISO RGD:736915 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 67383 Prkcd protein kinase C, delta gene DOID:0080000 muscular disease IEP D RGD:1642535|PMID:9458880 20070928 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle 67383 Prkcd protein kinase C, delta gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69026 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 67383 Prkcd protein kinase C, delta gene DOID:0080855 Parkinsonism ISO RGD:69026 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15681813 67383 Prkcd protein kinase C, delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:7240710 20170215 OMIM 67383 Prkcd protein kinase C, delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:16199547|PMID:17576681|PMID:23319571|PMID:23430113|PMID:24033266|PMID:25741868|PMID:26546672|PMID:28492532|PMID:30257684|PMID:34264265|PMID:9536098 67383 Prkcd protein kinase C, delta gene DOID:10762 portal hypertension ISO RGD:69026 D RGD:1642521|PMID:17659678 20070925 RGD mRNA:decreased expression:spleen, macrophage 67383 Prkcd protein kinase C, delta gene DOID:10763 hypertension IAGP D RGD:1581271|PMID:15792354 19990101 RGD 67383 Prkcd protein kinase C, delta gene DOID:10763 hypertension IEP D RGD:1642534|PMID:10756122 20070928 RGD protein:increased expression:heart, fibroblast 67383 Prkcd protein kinase C, delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23973649 67383 Prkcd protein kinase C, delta gene DOID:2018 hyperinsulinism IEP D RGD:1625605|PMID:8826977 20070928 RGD 67383 Prkcd protein kinase C, delta gene DOID:2316 brain ischemia IMP D RGD:1642524|PMID:17350602 20070925 RGD 67383 Prkcd protein kinase C, delta gene DOID:3602 toxic encephalopathy ISO RGD:69026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22512859 67383 Prkcd protein kinase C, delta gene DOID:397 restrictive cardiomyopathy IEP D RGD:1642535|PMID:9458880 20070928 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:heart ventricle 67383 Prkcd protein kinase C, delta gene DOID:630 genetic disease ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 67383 Prkcd protein kinase C, delta gene DOID:9000972 Fever ISO RGD:69026 D RGD:11554173 20200908 CTD CTD Direct Evidence: therapeutic PMID:31422080|PMID:32437895 67383 Prkcd protein kinase C, delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 67383 Prkcd protein kinase C, delta gene DOID:9002245 Intestinal Neoplasms ISO RGD:69026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 67383 Prkcd protein kinase C, delta gene DOID:9002395 Hypothermia ISO RGD:69026 D RGD:11554173 20190212 CTD CTD Direct Evidence: therapeutic PMID:30366073 67383 Prkcd protein kinase C, delta gene DOID:9003936 Cardiomegaly IAGP D RGD:1581271|PMID:15792354 19990101 RGD 67383 Prkcd protein kinase C, delta gene DOID:9003936 Cardiomegaly IEP D RGD:1581271|PMID:15792354 20070925 RGD associated with Hypertension 67383 Prkcd protein kinase C, delta gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1581272|PMID:15532718 19990101 RGD 67383 Prkcd protein kinase C, delta gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642532|PMID:11576956 20070928 RGD protein:increased expression:kidney 67383 Prkcd protein kinase C, delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69026 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 67383 Prkcd protein kinase C, delta gene DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:1581272|PMID:15532718 19990101 RGD 67383 Prkcd protein kinase C, delta gene DOID:9007096 Stroke IMP D RGD:1642524|PMID:17350602 20070925 RGD 67383 Prkcd protein kinase C, delta gene DOID:9007102 Myocardial Ischemia IEP D RGD:1642550|PMID:16924416 20070928 RGD mRNA, protein:increased expression, altered phosphorylation:heart 67383 Prkcd protein kinase C, delta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69026 D RGD:11554173 20190115 CTD CTD Direct Evidence: therapeutic PMID:30393195 67383 Prkcd protein kinase C, delta gene DOID:9007692 Insulin Resistance IEP D RGD:729667|PMID:12217885 20070928 RGD protein:altered localization:nucleus 67383 Prkcd protein kinase C, delta gene DOID:9007692 Insulin Resistance ISO RGD:69027 D RGD:1642527|PMID:15507533 20070927 RGD associated with Obesity;protein:increased activity:adipocyte 67383 Prkcd protein kinase C, delta gene DOID:9007730 Burns IEP D RGD:1642547|PMID:16990486 20070928 RGD protein:altered localization:cardiac muscle cell 67383 Prkcd protein kinase C, delta gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1642542|PMID:17322024 20070928 RGD protein:decreased expression:heart 67383 Prkcd protein kinase C, delta gene DOID:9452 fatty liver disease ISO RGD:69026 D RGD:1642523|PMID:17596878 20070925 RGD 67383 Prkcd protein kinase C, delta gene DOID:9970 obesity IEP D RGD:1642533|PMID:11478406 20070928 RGD protein:decreased expression:heart ventricle 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050451 Brugada syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050793 short QT syndrome ISO RGD:732576 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 5 PMID:25741868|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732576 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060319 cardiac arrest ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732576 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:7240710 20130425 OMIM 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:17224476|PMID:17576681|PMID:19358333|PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26220970|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:29016939|PMID:30027834|PMID:30415094|PMID:30847666|PMID:30975432|PMID:9536098 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10273 heart conduction disease ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:732576 D RGD:13513987|PMID:24338417 20180319 RGD DNA:SNP: :rs4373814(human) 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732576 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:732576 D RGD:13513985|PMID:28614222 20180319 RGD DNA:missense mutation:cds:c.1598C>T (p.S533L)(human) 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732576 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:2843 long QT syndrome ISO RGD:732576 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:630 genetic disease ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732576 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732576 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Early repolarization associated with ventricular fibrillation | ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:22840528|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:26707467|PMID:27650965|PMID:28492532|PMID:30027834 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9003740 Nerve Injuries IEP D RGD:13514092|PMID:22187436 20180328 RGD mRNA:decreased expression:dorsal root ganglion,spindal cord: 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732576 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 67385 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9007820 Sudden Death ISO RGD:732576 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:0080600 COVID-19 ISO RGD:68966 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:305 carcinoma ISO RGD:68966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:3659 sialuria ISO RGD:68966 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9002331 Knee Osteoarthritis IEP D RGD:13506963|PMID:25435813 20180227 RGD 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68966 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 67387 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9007730 Burns IEP D RGD:10401126|PMID:23041468 20150928 RGD protein:decreased expression:heart,mitochondrion: 67390 Orm1 orosomucoid 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351569 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 67390 Orm1 orosomucoid 1 gene DOID:3021 acute kidney failure ISO RGD:1351569 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 67390 Orm1 orosomucoid 1 gene DOID:630 genetic disease ISO RGD:1351569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67390 Orm1 orosomucoid 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:2316639|PMID:16166348 20100218 RGD protein:increased expression:liver 67390 Orm1 orosomucoid 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1351569 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 67390 Orm1 orosomucoid 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1351569 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 67390 Orm1 orosomucoid 1 gene DOID:9007874 Liver Failure ISO RGD:1351569 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18256743 67394 Eln elastin gene DOID:0002116 pterygium ISO RGD:736469 D RGD:9585733|PMID:11021831 20140922 RGD protein:increased expression:conjunctiva: 67394 Eln elastin gene DOID:0050651 atrioventricular septal defect ISO RGD:736469 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:0050922 gastrointestinal carcinoma ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:0060041 autism spectrum disorder ISO RGD:736469 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 67394 Eln elastin gene DOID:0060320 inguinal hernia ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:7240710 20180418 OMIM 67394 Eln elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 PMID:10942104|PMID:11175284|PMID:12555228|PMID:15955094|PMID:16085695|PMID:16199547|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:20600892|PMID:21309044|PMID:23049958|PMID:23401415|PMID:24033266|PMID:25741868|PMID:26483232|PMID:28391405|PMID:28492532|PMID:29501665|PMID:29555671|PMID:29907982|PMID:31577255|PMID:31589614|PMID:5046633|PMID:7884000|PMID:8091333|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 67394 Eln elastin gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736469 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 67394 Eln elastin gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant PMID:11175284|PMID:12555228|PMID:16894468|PMID:19029017|PMID:24033266|PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:0080745 polymyositis ISO RGD:736469 D RGD:9585739|PMID:12643515 20140923 RGD 67394 Eln elastin gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:7207865|PMID:21478483 20130211 RGD 67394 Eln elastin gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:736469 D RGD:9585749|PMID:1629625 20140923 RGD 67394 Eln elastin gene DOID:10325 silicosis IEP D RGD:9585691|PMID:7573374 20140919 RGD protein:increased expression:lung connective tissue: 67394 Eln elastin gene DOID:1070 primary open angle glaucoma ISO RGD:736469 D RGD:9585735|PMID:1526740 20140922 RGD 67394 Eln elastin gene DOID:10763 hypertension ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17039479 67394 Eln elastin gene DOID:10825 essential hypertension ISS RGD:733666 D RGD:13592920 20180518 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 67394 Eln elastin gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736469 D RGD:7387224|PMID:22065928 20140922 RGD DNA:SNPintron: rs2301995(human) 67394 Eln elastin gene DOID:10873 Kuhnt-Junius degeneration no_association ISO RGD:736469 D RGD:9585729|PMID:18326737 20140922 RGD 67394 Eln elastin gene DOID:10923 sickle cell anemia ISO RGD:736469 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 67394 Eln elastin gene DOID:10941 intracranial aneurysm ISO RGD:736469 D RGD:1580328|PMID:15218274 19990101 RGD 67394 Eln elastin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 67394 Eln elastin gene DOID:12849 autistic disorder ISO RGD:736469 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 67394 Eln elastin gene DOID:12918 thromboangiitis obliterans ISO RGD:736469 D RGD:9585753|PMID:8763587 20140923 RGD protein:increased expression:blood: 67394 Eln elastin gene DOID:13375 temporal arteritis ISO RGD:736469 D RGD:9585754|PMID:9101501 20140923 RGD 67394 Eln elastin gene DOID:13378 Kawasaki disease ISO RGD:733666 D RGD:9585741|PMID:21356372 20140923 RGD 67394 Eln elastin gene DOID:13641 exfoliation syndrome ISO RGD:736469 D RGD:9585736|PMID:7777294 20140922 RGD 67394 Eln elastin gene DOID:13948 bladder neck obstruction treatment IEP D RGD:7257549|PMID:23313213 20150105 RGD 67394 Eln elastin gene DOID:14004 thoracic aortic aneurysm ISO RGD:736469 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:1712 aortic valve stenosis ISO RGD:736469 D RGD:1580327|PMID:11175284 19990101 RGD 67394 Eln elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9585752|PMID:11979070 20140923 RGD 67394 Eln elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9585768|PMID:19032378 20140923 RGD associated with Nevus, Pigmented; 67394 Eln elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 67394 Eln elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:7207897|PMID:7545578 20130212 RGD 67394 Eln elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210 67394 Eln elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:9585755|PMID:10533027 20140923 RGD 67394 Eln elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8096434|PMID:20007321 67394 Eln elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:1601026|PMID:8132745 20070404 RGD SVAS,OMIM:185500;DNA:deletion 67394 Eln elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:7240710 20130221 OMIM 67394 Eln elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis | ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:10190324|PMID:10190538|PMID:10627943|PMID:10942104|PMID:11175284|PMID:12555228|PMID:16085695|PMID:16199547|PMID:16374472|PMID:16894468|PMID:17037986|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:22740173|PMID:23049958|PMID:23401415|PMID:23442826|PMID:24033266|PMID:25205790|PMID:25741868|PMID:26014430|PMID:26483232|PMID:27866049|PMID:28166811|PMID:28277377|PMID:28391405|PMID:28492532|PMID:29332214|PMID:29501665|PMID:29555671|PMID:29907982|PMID:30228022|PMID:31577255|PMID:31589614|PMID:31829210|PMID:34422331|PMID:7557968|PMID:7611295|PMID:7726172|PMID:7884000|PMID:8132745|PMID:8362925|PMID:8364568|PMID:8541862|PMID:8968740|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 67394 Eln elastin gene DOID:2738 pseudoxanthoma elasticum ISO RGD:736469 D RGD:9585748|PMID:7524808 20140923 RGD 67394 Eln elastin gene DOID:2738 pseudoxanthoma elasticum ISO RGD:736469 D RGD:9585763|PMID:1936214 20140923 RGD 67394 Eln elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 67394 Eln elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:1580326|PMID:16081882 19990101 RGD 67394 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 67394 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:1580330|PMID:15381555 19990101 RGD 67394 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9585732|PMID:2745999 20140922 RGD 67394 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9585738|PMID:9873040 20140923 RGD DNA:deletions:exon:2012del,2039del(human) 67394 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9585740|PMID:15955094 20140923 RGD associated with lung diseases; DNA:duplication: : 67394 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9585761|PMID:23442826 20140923 RGD DNA:deletion mutations:cds: 67394 Eln elastin gene DOID:3159 photosensitivity disease ISO RGD:736469 D RGD:9585765|PMID:18753059 20140923 RGD protein:decreased expression:skin: 67394 Eln elastin gene DOID:3627 aortic aneurysm ISO RGD:736469 D RGD:9585744|PMID:16085695 20140923 RGD associated with Cutis Laxa; 67394 Eln elastin gene DOID:3770 pulmonary fibrosis ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10761639|PMID:26817844 67394 Eln elastin gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:9585688|PMID:12194112 20140919 RGD mRNA,protein:increased expression:lung: 67394 Eln elastin gene DOID:418 systemic scleroderma ISO RGD:736469 D RGD:9585742|PMID:22563211 20140923 RGD 67394 Eln elastin gene DOID:4448 macular degeneration ISO RGD:736469 D RGD:9585737|PMID:16123400 20140922 RGD protein:increased expression:serum: 67394 Eln elastin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736469 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 67394 Eln elastin gene DOID:5082 liver cirrhosis severity IEP D RGD:9585666|PMID:22223197 20140919 RGD protein:increased expression:liver: 67394 Eln elastin gene DOID:5419 schizophrenia ISO RGD:736469 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 67394 Eln elastin gene DOID:62 aortic valve disease ISS RGD:733666 D RGD:13592920 20180518 MouseDO 67394 Eln elastin gene DOID:630 genetic disease ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190324|PMID:10190538|PMID:10942104|PMID:11175284|PMID:17037986|PMID:17576681|PMID:19844261|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29501665|PMID:31577255|PMID:34422331|PMID:9215670|PMID:9215671|PMID:9536098 67394 Eln elastin gene DOID:7148 rheumatoid arthritis ISO RGD:736469 D RGD:9585739|PMID:12643515 20140923 RGD 67394 Eln elastin gene DOID:7693 abdominal aortic aneurysm ISO RGD:736469 D RGD:1580157|PMID:15944607 19990101 RGD 67394 Eln elastin gene DOID:7693 abdominal aortic aneurysm treatment IDA D RGD:9585668|PMID:18585885 20140919 RGD 67394 Eln elastin gene DOID:799 varicose veins ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Varicose veins PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:8445 intestinal volvulus ISO RGD:736469 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 67394 Eln elastin gene DOID:8505 dermatitis herpetiformis ISO RGD:736469 D RGD:9585750|PMID:8256113 20140923 RGD 67394 Eln elastin gene DOID:8893 psoriasis treatment ISO RGD:736469 D RGD:9585764|PMID:6893335 20140923 RGD 67394 Eln elastin gene DOID:8947 diabetic retinopathy ISO RGD:736469 D RGD:9585734|PMID:11707314 20140922 RGD 67394 Eln elastin gene DOID:9001330 Urinary Incontinence, Stress IEP D RGD:7207866|PMID:19878076 20130212 RGD 67394 Eln elastin gene DOID:9001831 Lichen Sclerosus et Atrophicus ISO RGD:736469 D RGD:9585756|PMID:11683283 20140923 RGD protein:altered expression:vulva: 67394 Eln elastin gene DOID:9002377 Supravalvar Aortic Stenosis, Eisenberg Type ISO RGD:736469 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:9003133 Hypertelorism ISO RGD:736469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11175284|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29555671|PMID:29907982|PMID:31589614 67394 Eln elastin gene DOID:9003386 Sunburn ISO RGD:736469 D RGD:9585745|PMID:8040608 20140923 RGD mRNA:increased expression:skin: 67394 Eln elastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736469 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 67394 Eln elastin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9585725|PMID:18279932 20140922 RGD mRNA:increased expression:bladder: 67394 Eln elastin gene DOID:9006392 Anetoderma ISO RGD:736469 D RGD:9585766|PMID:6736354 20140923 RGD protein:decreased expression:skin: 67394 Eln elastin gene DOID:9007096 Stroke ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 67394 Eln elastin gene DOID:9007102 Myocardial Ischemia ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 67394 Eln elastin gene DOID:9008419 Volvulus Of Midgut ISO RGD:736469 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 67394 Eln elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:736469 D RGD:9585730|PMID:21391811 20140922 RGD DNA:SNP: :rs2301995(human) 67394 Eln elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:736469 D RGD:9585729|PMID:18326737 20140922 RGD DNA:SNP,haplotype: :rs2301995(human) 67394 Eln elastin gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10359170 67394 Eln elastin gene DOID:9074 systemic lupus erythematosus ISO RGD:736469 D RGD:9585739|PMID:12643515 20140923 RGD 67394 Eln elastin gene DOID:9675 pulmonary emphysema ISO RGD:736469 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 67394 Eln elastin gene DOID:9810 polyarteritis nodosa ISO RGD:736469 D RGD:9585739|PMID:12643515 20140923 RGD 67396 Ceacam1 CEA cell adhesion molecule 1 gene DOID:299 adenocarcinoma ISO RGD:10241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 67396 Ceacam1 CEA cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:10241 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 67396 Ceacam1 CEA cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:10241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67396 Ceacam1 CEA cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:10241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 67396 Ceacam1 CEA cell adhesion molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:10241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 67398 Tbp TATA box binding protein gene DOID:0050847 sleep apnea ISO RGD:68980 D RGD:5684350|PMID:14693397 20111214 RGD associated with Sudden Infant Death; protein:altered expression:brainstem (human) 67398 Tbp TATA box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 67398 Tbp TATA box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:7240710 20230517 OMIM 67398 Tbp TATA box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 PMID:25741868 67398 Tbp TATA box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:9681730|PMID:23699518 20141204 RGD 67398 Tbp TATA box binding protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:68980 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 67398 Tbp TATA box binding protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:68980 D RGD:7240710 20230517 OMIM 67398 Tbp TATA box binding protein gene DOID:10652 Alzheimer's disease ISO RGD:68980 D RGD:5684338|PMID:15193429 20111214 RGD protein:increased expression:hippocampus, entorhinal cortex (human) 67398 Tbp TATA box binding protein gene DOID:12858 Huntington's disease severity ISO RGD:68980 D RGD:5684339|PMID:12531510 20111214 RGD protein:increased expression:middle frontal gyrus (human) 67398 Tbp TATA box binding protein gene DOID:13938 amenorrhea ISO RGD:68980 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 67398 Tbp TATA box binding protein gene DOID:5419 schizophrenia ISO RGD:68980 D RGD:5684344|PMID:16054804 20111214 RGD DNA:repeat:cds:g.172(CAG/CAA)36 (human) 67398 Tbp TATA box binding protein gene DOID:630 genetic disease ISO RGD:68980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67398 Tbp TATA box binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:68980 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266 67398 Tbp TATA box binding protein gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9681729|PMID:24710803 20141204 RGD protein:increased expression:spinal cord, astrocyte, microglial cell 67398 Tbp TATA box binding protein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68981 D RGD:5684014|PMID:21705419 20111213 RGD 67398 Tbp TATA box binding protein gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:68980 D RGD:5684015|PMID:11448935 20111213 RGD DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) 67398 Tbp TATA box binding protein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:68980 D RGD:5684349|PMID:15850778 20111214 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) 67398 Tbp TATA box binding protein gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68980 D RGD:5684348|PMID:15381080 20111214 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) 67399 Insrr insulin receptor-related receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 67399 Insrr insulin receptor-related receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:1346961 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary 67399 Insrr insulin receptor-related receptor gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1346961 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV 67399 Insrr insulin receptor-related receptor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 67399 Insrr insulin receptor-related receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 67399 Insrr insulin receptor-related receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 67399 Insrr insulin receptor-related receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 67399 Insrr insulin receptor-related receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1346961 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 67399 Insrr insulin receptor-related receptor gene DOID:5812 MHC class II deficiency ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 67399 Insrr insulin receptor-related receptor gene DOID:630 genetic disease ISO RGD:1346961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67399 Insrr insulin receptor-related receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346961 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 67401 Ccnf cyclin F gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736837 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 67401 Ccnf cyclin F gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:736837 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:1389 polyneuropathy ISO RGD:736837 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 67401 Ccnf cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 67401 Ccnf cyclin F gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736837 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 67401 Ccnf cyclin F gene DOID:308 early myoclonic encephalopathy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 67401 Ccnf cyclin F gene DOID:630 genetic disease ISO RGD:736837 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:684 hepatocellular carcinoma ISO RGD:736837 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 67401 Ccnf cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:7240710 20210113 OMIM 67401 Ccnf cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 PMID:25741868|PMID:27080313|PMID:28281833|PMID:31577344 67401 Ccnf cyclin F gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:736837 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 67401 Ccnf cyclin F gene DOID:9255 frontotemporal dementia ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 67402 Hmox2 heme oxygenase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 67402 Hmox2 heme oxygenase 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:68991 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 67402 Hmox2 heme oxygenase 2 gene DOID:10024 migraine with aura ISO RGD:68991 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 67402 Hmox2 heme oxygenase 2 gene DOID:1826 epilepsy ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 67402 Hmox2 heme oxygenase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68991 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 67402 Hmox2 heme oxygenase 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 67402 Hmox2 heme oxygenase 2 gene DOID:630 genetic disease ISO RGD:68991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 67402 Hmox2 heme oxygenase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:68991 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16459095 67404 Clip1 CAP-GLY domain containing linker protein 1 gene DOID:1059 intellectual disability ISO RGD:69221 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: CLIP1-related intellectual disability 67404 Clip1 CAP-GLY domain containing linker protein 1 gene DOID:630 genetic disease ISO RGD:69221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 67404 Clip1 CAP-GLY domain containing linker protein 1 gene DOID:9007661 Dwarfism ISO RGD:69221 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 67404 Clip1 CAP-GLY domain containing linker protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69221 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay 67935 WOKW strain DOID:1168 familial hyperlipidemia IAGP D RGD:1624313|PMID:17473932 20200316 RGD compared to DA/K 67935 WOKW strain DOID:2018 hyperinsulinism IAGP D RGD:1357168|PMID:11374884 19990101 RGD compared to DA/K 67935 WOKW strain DOID:2018 hyperinsulinism IAGP D RGD:619689|PMID:10720472 20191212 RGD compared to DA/K 67935 WOKW strain DOID:576 proteinuria IAGP D RGD:1624313|PMID:17473932 20200316 RGD compared to DA/K 67935 WOKW strain DOID:9003370 Dyslipidemias IAGP D RGD:619689|PMID:10720472 20191212 RGD compared to DA/K 67935 WOKW strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:1357168|PMID:11374884 19990101 RGD compared to DA/K 67935 WOKW strain DOID:9007692 Insulin Resistance IAGP D RGD:1624313|PMID:17473932 20200316 RGD compared to DA/K 67935 WOKW strain DOID:9970 obesity IAGP D RGD:1357168|PMID:11374884 19990101 RGD compared to DA/K 67935 WOKW strain DOID:9970 obesity IAGP D RGD:1624313|PMID:17473932 20200316 RGD compared to DA/K 67935 WOKW strain DOID:9970 obesity IAGP D RGD:619689|PMID:10720472 20191212 RGD compared to DA/K 67936 WR strain DOID:3571 liver cancer induces IDA D RGD:151356973|PMID:11797828 20220222 RGD 67958 AS Albino Surgery strain DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:704436|PMID:4715260 19990101 RGD 67978 BDIV strain DOID:0050890 synucleinopathy MODEL: control IAGP D RGD:41412185|PMID:27771352 20210302 RGD compared to BDIV-Myo5a/StcRrrc 68013 CAR/N Hunt-Hoppert caries resistant; CA/R strain DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:632069|PMID:1097514 20201222 RGD 68014 CAS strain DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:632069|PMID:1097514 20201222 RGD 68019 CRDH Cohen Rosenthal Diabetic Hypertensive strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1354689|PMID:14643580 19990101 RGD compared to WKY and CD 68019 CRDH Cohen Rosenthal Diabetic Hypertensive strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:724741|PMID:8136099 20200129 RGD compared to CD and SHR 68019 CRDH Cohen Rosenthal Diabetic Hypertensive strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:1354689|PMID:14643580 19990101 RGD compared to WKY and SHR 68019 CRDH Cohen Rosenthal Diabetic Hypertensive strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:724741|PMID:8136099 20200129 RGD compared to CD and SHR 68023 DEBR Dundee experimental bald rat strain DOID:986 alopecia areata IAGP D RGD:13513205|PMID:1911310 20180314 RGD 68047 HMT strain DOID:0050866 oral squamous cell carcinoma susceptibility IAGP D RGD:724737|PMID:7370169 20200810 RGD compared to outbred parents 68067 LEJ/Hok strain DOID:9006642 Experimental Autoimmune Uveoretinitis induced IAGP XCO:0000288 D RGD:724740|PMID:7851121 19990101 RGD 68073 LETL strain DOID:9744 type 1 diabetes mellitus IAGP D RGD:724731|PMID:1682194 20201222 RGD 68074 LETO strain DOID:9007692 Insulin Resistance MODEL: control IAGP D RGD:21406435|PMID:30225267 20200313 RGD compared to OLETF rats 68074 LETO strain DOID:9452 fatty liver disease MODEL: control IAGP D RGD:21406435|PMID:30225267 20200313 RGD compared to OLETF rats 68074 LETO strain DOID:9970 obesity MODEL: control IAGP D RGD:21406435|PMID:30225267 20200313 RGD compared to OLETF rats 68087 MAXX strain DOID:4780 anti-basement membrane glomerulonephritis induced IAGP D RGD:724729|PMID:3168332 20210125 RGD 68099 MWF strain DOID:10763 hypertension ameliorates IAGP XCO:0000677 D RGD:25314266|PMID:25680709 20210708 RGD compared to untreated 68099 MWF strain DOID:576 proteinuria ameliorates IAGP XCO:0000677 D RGD:25314266|PMID:25680709 20210708 RGD compared to untreated 68099 MWF strain DOID:576 proteinuria exacerbates IAGP XCO:0000539 D RGD:25314258|PMID:7539538 20210510 RGD compared with SD and untreated 68099 MWF strain DOID:576 proteinuria treatment IAGP XCO:0000535 D RGD:2325229|PMID:19164508 20210723 RGD compared to WKY, MWF 40 and 50 weeks and untreated 68114 OXYS/Nov strain DOID:10652 Alzheimer's disease IAGP D RGD:13503332|PMID:24047616 20180111 RGD 68114 OXYS/Nov strain DOID:11476 osteoporosis treatment IAGP D RGD:13503351|PMID:22446865 20180115 RGD 68114 OXYS/Nov strain DOID:4448 macular degeneration MODEL: age-related IAGP D RGD:13503350|PMID:25483086 20180115 RGD 68114 OXYS/Nov strain DOID:4448 macular degeneration MODEL:age-related IAGP D RGD:7794750|PMID:22300709 20140521 RGD 68114 OXYS/Nov strain DOID:83 cataract MODEL: age-related IAGP D RGD:13503352|PMID:19120020 20180115 RGD 68114 OXYS/Nov strain DOID:83 cataract MODEL:age-related IAGP D RGD:4140427|PMID:15500819 20140917 RGD 68114 OXYS/Nov strain DOID:83 cataract MODEL:age-related IAGP D RGD:7794750|PMID:22300709 20140521 RGD 68149 TM Tester Moriyama rat strain DOID:2223 platelet storage pool deficiency IAGP D RGD:1302447|PMID:9250486 19990101 RGD 68189 HTX/Hcj strain DOID:10908 hydrocephalus IAGP D RGD:68693|PMID:11178739 19990101 RGD 68320 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 68320 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:12849 autistic disorder ISO RGD:68441 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68320 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:630 genetic disease ISO RGD:68441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68320 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:684 hepatocellular carcinoma ISO RGD:68441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 68320 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:9007661 Dwarfism ISO RGD:68441 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:0050770 polycystic liver disease ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1351813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:7240710 20190315 OMIM 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27392076|PMID:28492532|PMID:28782633 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351813 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 68321 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 68322 Apcs amyloid P component, serum gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68444 D RGD:11554173 20211109 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 68322 Apcs amyloid P component, serum gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 68322 Apcs amyloid P component, serum gene DOID:1540 parathyroid carcinoma ISO RGD:68444 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68322 Apcs amyloid P component, serum gene DOID:3393 coronary artery disease ISO RGD:68444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12714198 68322 Apcs amyloid P component, serum gene DOID:6000 congestive heart failure ISO RGD:68444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16129801 68322 Apcs amyloid P component, serum gene DOID:630 genetic disease ISO RGD:68444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68322 Apcs amyloid P component, serum gene DOID:684 hepatocellular carcinoma ISO RGD:68444 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 68322 Apcs amyloid P component, serum gene DOID:9007188 Liver Neoplasms ISO RGD:68444 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 68322 Apcs amyloid P component, serum gene DOID:9120 amyloidosis ISO RGD:736001|RGD:68444 D RGD:1300286|PMID:12015594 20110616 RGD 68322 Apcs amyloid P component, serum gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68444 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68323 Rab2a RAB2A, member RAS oncogene family gene DOID:0050834 CHARGE syndrome ISO RGD:68446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 68323 Rab2a RAB2A, member RAS oncogene family gene DOID:11612 polycystic ovary syndrome ISO RGD:68446 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 68323 Rab2a RAB2A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68324 Pdlim1 PDZ and LIM domain 1 gene DOID:630 genetic disease ISO RGD:68448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25439726|PMID:26922252|PMID:28492532 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532|PMID:32376792 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:7240710 20151111 OMIM 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30598237|PMID:31020813|PMID:31178897|PMID:34190362 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:7240710 20130221 OMIM 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:737748|PMID:11528396 19990101 RGD DNA:mutations:multiple (human) 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 distal spinal muscular atrophy 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:15503272|PMID:15599641|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24088041|PMID:24388491|PMID:25280635|PMID:25326635|PMID:25326637|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26709713|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28403181|PMID:28492532|PMID:28765793|PMID:28902413|PMID:29761130|PMID:29858556|PMID:30373780|PMID:30598237|PMID:30755392|PMID:30863264|PMID:31019026|PMID:31020813|PMID:31178897|PMID:31211173|PMID:32376792|PMID:32488064|PMID:32573669|PMID:33258288|PMID:33369814|PMID:34190362|PMID:9536098 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:11528396|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20859832|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26467025|PMID:26709713|PMID:27450922|PMID:28403181|PMID:28492532|PMID:29761130|PMID:30598237|PMID:31020813|PMID:31211173 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1 PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68450 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:12377 spinal muscular atrophy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:24033266|PMID:24388491|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:28065684|PMID:28397221|PMID:28492532|PMID:31178897|PMID:32376792 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506069|PMID:14681881|PMID:15108294|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24088041|PMID:24388491|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28251916|PMID:28403181|PMID:28492532|PMID:28902413|PMID:30373780|PMID:30598237|PMID:31178897|PMID:32376792|PMID:33258288|PMID:33369814|PMID:9536098 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:870 neuropathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68450 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:14506069|PMID:14681881|PMID:15108294|PMID:19157874|PMID:23449687|PMID:23806086|PMID:24088041|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26709713|PMID:28492532|PMID:30598237 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:68450 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005532 Muscle Weakness ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9007114 Mobility Limitation ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 68325 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 68326 Vapb VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:7240710 20130425 OMIM 68326 Vapb VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:20940299|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532|PMID:9536098 68326 Vapb VAMP associated protein B and C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68452 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 68326 Vapb VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:7240710 20130221 OMIM 68326 Vapb VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:15372378|PMID:16187141|PMID:16967488|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24681403|PMID:25741868|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532 68326 Vapb VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant 68326 Vapb VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy onset ISO RGD:68452 D RGD:5688230|PMID:15372378 20120221 RGD DNA:missense mutation:cds:p.P56S (human) 68326 Vapb VAMP associated protein B and C gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68452 D RGD:5688230|PMID:15372378 20120221 RGD DNA:missense mutation:cds:p.P56S (human) 68326 Vapb VAMP associated protein B and C gene DOID:630 genetic disease ISO RGD:68452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:21275991|PMID:22878164|PMID:23771029|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28492532|PMID:9536098 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease ISO RGD:68455 D RGD:10401859|PMID:24324398 20171002 RGD 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease ISO RGD:68455 D RGD:13432577|PMID:22402331 20171002 RGD 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:13432575|PMID:18192679 20171002 RGD DNA:SNP:multiple 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:13432576|PMID:22698993 20171002 RGD DNA:SNP: :p.T441M (human) 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease no_association ISO RGD:68454 D RGD:13432579|PMID:26000918 20171002 RGD DNA:SNP: :rs4523977 (human) 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease onset ISO RGD:68454 D RGD:13432575|PMID:18192679 20171002 RGD DNA:SNP: :p.T441M (human) 68327 Hap1 huntingtin-associated protein 1 gene DOID:12858 Huntington's disease onset ISO RGD:68454 D RGD:13432578|PMID:20512606 20171002 RGD DNA:SNP: :p.T441M (human) 68327 Hap1 huntingtin-associated protein 1 gene DOID:1595 melancholic depression ISS RGD:68455 D RGD:13592920 20180518 MouseDO OMIM:608516 68327 Hap1 huntingtin-associated protein 1 gene DOID:374 nutrition disease ISO RGD:68455 D RGD:1302538|PMID:11971876 19990101 RGD 68327 Hap1 huntingtin-associated protein 1 gene DOID:630 genetic disease ISO RGD:68454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68327 Hap1 huntingtin-associated protein 1 gene DOID:9007993 Dehydration ISO RGD:68455 D RGD:1302538|PMID:11971876 19990101 RGD 68328 Slc2a5 solute carrier family 2 member 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 68328 Slc2a5 solute carrier family 2 member 5 gene DOID:2843 long QT syndrome ISO RGD:68456 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 68328 Slc2a5 solute carrier family 2 member 5 gene DOID:630 genetic disease ISO RGD:68456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68328 Slc2a5 solute carrier family 2 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68456 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68328 Slc2a5 solute carrier family 2 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:68456 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15449313 68329 Pde1a phosphodiesterase 1A gene DOID:630 genetic disease ISO RGD:68458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68329 Pde1a phosphodiesterase 1A gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2312523|PMID:12834273 20180517 RGD 68330 Thop1 thimet oligopeptidase 1 gene DOID:630 genetic disease ISO RGD:68460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68330 Thop1 thimet oligopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68460 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68331 Gabrq gamma-aminobutyric acid type A receptor subunit theta gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 68331 Gabrq gamma-aminobutyric acid type A receptor subunit theta gene DOID:12849 autistic disorder ISO RGD:731793 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68331 Gabrq gamma-aminobutyric acid type A receptor subunit theta gene DOID:630 genetic disease ISO RGD:731793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68332 Pde1c phosphodiesterase 1C gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:68463 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:29860631 68332 Pde1c phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:7240710 20190315 OMIM 68332 Pde1c phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 74 PMID:25741868|PMID:28492532|PMID:29860631 68332 Pde1c phosphodiesterase 1C gene DOID:10283 prostate cancer ISO RGD:68463 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 68332 Pde1c phosphodiesterase 1C gene DOID:303 substance-related disorder ISO RGD:68463 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 68332 Pde1c phosphodiesterase 1C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68463 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 68332 Pde1c phosphodiesterase 1C gene DOID:630 genetic disease ISO RGD:68463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68333 Gpr12 G protein-coupled receptor 12 gene DOID:630 genetic disease ISO RGD:68465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68333 Gpr12 G protein-coupled receptor 12 gene DOID:9970 obesity ISS RGD:68466 D RGD:13592920 20180518 MouseDO OMIM:601665 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:0060060 non-Hodgkin lymphoma ISS RGD:68467 D RGD:13592920 20180518 MouseDO OMIM:605027 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:7240710 20190315 OMIM 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 68 PMID:16703383|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26805784|PMID:28492532 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:114 heart disease ISO RGD:1343937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:630 genetic disease ISO RGD:1343937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26518876 68334 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1343937 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 68335 Por cytochrome p450 oxidoreductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:7240710 20130221 OMIM 68335 Por cytochrome p450 oxidoreductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14513299|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16470797|PMID:17576681|PMID:18230729|PMID:18551037|PMID:18559916|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20410220|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21741353|PMID:22162478|PMID:22252407|PMID:22547083|PMID:23878291|PMID:24847272|PMID:25741868|PMID:26670660|PMID:27068427|PMID:28492532|PMID:28841001|PMID:31598952|PMID:31837199|PMID:32242900|PMID:33666875|PMID:33864926|PMID:34009138|PMID:9360545|PMID:9536098 68335 Por cytochrome p450 oxidoreductase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18559916 68335 Por cytochrome p450 oxidoreductase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68468 D RGD:4889128|PMID:17505056 20101129 RGD DNA:missense mutations:cds:p.A287P, p.H628P (human) 68335 Por cytochrome p450 oxidoreductase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:14758361|PMID:15220035|PMID:15350602|PMID:15793702|PMID:17635179|PMID:18551037|PMID:18930113|PMID:19837910|PMID:20410220|PMID:20732302|PMID:21741353|PMID:22162478|PMID:22462747|PMID:23365120|PMID:25741868|PMID:27068427|PMID:28492532|PMID:33864926 68335 Por cytochrome p450 oxidoreductase gene DOID:0080074 neural tube defect ISO RGD:68469 D RGD:4889811|PMID:11742006 20101208 RGD 68335 Por cytochrome p450 oxidoreductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:7240710 20210505 OMIM 68335 Por cytochrome p450 oxidoreductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15350602|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16467261|PMID:16470797|PMID:17576681|PMID:17635179|PMID:17827787|PMID:18230729|PMID:18433346|PMID:18551037|PMID:18559916|PMID:18930113|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21084761|PMID:21741353|PMID:21843508|PMID:22162478|PMID:22252407|PMID:22462747|PMID:22547083|PMID:22719896|PMID:23353702|PMID:23365120|PMID:23878291|PMID:24847272|PMID:25712184|PMID:25741868|PMID:26670660|PMID:27068427|PMID:27376429|PMID:28492532|PMID:28731962|PMID:28841001|PMID:29168297|PMID:31598952|PMID:31669572|PMID:32242900|PMID:33666875|PMID:34009138|PMID:9360545|PMID:9536098 68335 Por cytochrome p450 oxidoreductase gene DOID:0081289 Antley-Bixler syndrome ISO RGD:68468 D RGD:11554173 20170207 CTD CTD Direct Evidence: marker/mechanism PMID:14758361|PMID:15220035|PMID:16906539|PMID:27496950 68335 Por cytochrome p450 oxidoreductase gene DOID:0081289 Antley-Bixler syndrome ISO RGD:68468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15793702|PMID:18551037|PMID:20188793|PMID:20940534|PMID:21741353|PMID:22162478|PMID:25741868|PMID:27068427|PMID:28492532 68335 Por cytochrome p450 oxidoreductase gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:68468 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 68335 Por cytochrome p450 oxidoreductase gene DOID:10487 Hirschsprung's disease ISO RGD:68468 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 68335 Por cytochrome p450 oxidoreductase gene DOID:11054 urinary bladder cancer ISO RGD:68468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 68335 Por cytochrome p450 oxidoreductase gene DOID:13938 amenorrhea ISO RGD:68468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14758361 68335 Por cytochrome p450 oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 68335 Por cytochrome p450 oxidoreductase gene DOID:3071 gliosarcoma ISO RGD:68468 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:9766669 68335 Por cytochrome p450 oxidoreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68468 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 68335 Por cytochrome p450 oxidoreductase gene DOID:5426 primary ovarian insufficiency ISO RGD:68468 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 68335 Por cytochrome p450 oxidoreductase gene DOID:6000 congestive heart failure ISO RGD:68468 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 68335 Por cytochrome p450 oxidoreductase gene DOID:630 genetic disease ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68335 Por cytochrome p450 oxidoreductase gene DOID:8927 learning disability ISO RGD:68468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21987461 68335 Por cytochrome p450 oxidoreductase gene DOID:9000310 Lung Injury ISO RGD:68468 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:33033841 68335 Por cytochrome p450 oxidoreductase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:21070833|PMID:24847272|PMID:25741868|PMID:27068427|PMID:27376429|PMID:28492532|PMID:33666875 68335 Por cytochrome p450 oxidoreductase gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 68335 Por cytochrome p450 oxidoreductase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68468 D RGD:1599697|PMID:15793702 20070212 RGD Antley-Bixler syndrome, OMIM:124015; DNA:mutations:cds:multiple (human) 68335 Por cytochrome p450 oxidoreductase gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:68468 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 68335 Por cytochrome p450 oxidoreductase gene DOID:9006024 Hypotension IEP D RGD:1625563|PMID:15942020 20101209 RGD mRNA:increased expression:kidney (rat) 68335 Por cytochrome p450 oxidoreductase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68470 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:68470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423|PMID:20647552 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:68470 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:7240710 20180425 OMIM 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) PMID:15146459|PMID:18285423|PMID:25741868|PMID:28492532 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:0111936 immunodeficiency 14 ISO RGD:68470 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:5119 ovarian cyst ISO RGD:68470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:630 genetic disease ISO RGD:68470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:68470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:15146459|PMID:16199547|PMID:17576681|PMID:18285423|PMID:25640679|PMID:25741868|PMID:26627464|PMID:28492532|PMID:33547378|PMID:9536098 68336 Pex14 peroxisomal biogenesis factor 14 gene DOID:905 Zellweger syndrome ISO RGD:68470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423 68337 Htt huntingtin gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:68472 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 68337 Htt huntingtin gene DOID:12858 Huntington's disease IMP D RGD:13452381|PMID:12620967 20171117 RGD 68337 Htt huntingtin gene DOID:12858 Huntington's disease IMP D RGD:6902915|PMID:22731249 20120921 RGD 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:10402938|PMID:25062733 20151103 RGD mRNA:altered expression:cortex, striatum: 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:11062152|PMID:26938440 20160428 RGD 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:11062153|PMID:21163446 20160428 RGD 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:15218539|PMID:15312898|PMID:16137562|PMID:17018277|PMID:17925440|PMID:18831068|PMID:19094060|PMID:19476553|PMID:20929960|PMID:21867705|PMID:28111121 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:1302537|PMID:8898202 19990101 RGD 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:7240710 20130221 OMIM 68337 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Huntington disease PMID:25741868|PMID:28492532 68337 Htt huntingtin gene DOID:12858 Huntington's disease onset ISO RGD:68472 D RGD:10403029|PMID:8242074 20151104 RGD DNA:repeats:cds:CAG (human) 68337 Htt huntingtin gene DOID:12858 Huntington's disease treatment ISO RGD:68472 D RGD:10403026|PMID:17940007 20151104 RGD 68337 Htt huntingtin gene DOID:14330 Parkinson's disease ISO RGD:68472 D RGD:13452383|PMID:26192120 20171117 RGD 68337 Htt huntingtin gene DOID:1856 cherubism ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 68337 Htt huntingtin gene DOID:1969 cerebral palsy ISO RGD:68472 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 68337 Htt huntingtin gene DOID:224 transient cerebral ischemia IEP D RGD:1304431|PMID:12957494 19990101 RGD protein:increased degradation:brain 68337 Htt huntingtin gene DOID:480 movement disease ISO RGD:68472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 68337 Htt huntingtin gene DOID:630 genetic disease ISO RGD:68472 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68337 Htt huntingtin gene DOID:9000304 Manganese Poisoning ISO RGD:68472 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19845833 68337 Htt huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:7240710 20190315 OMIM 68337 Htt huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lopes-Maciel-Rodan syndrome PMID:25741868|PMID:26740508|PMID:27329733|PMID:28492532|PMID:33116287 68337 Htt huntingtin gene DOID:9001191 Cadmium Poisoning ISO RGD:68472 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19845833 68338 Gipc1 GIPC PDZ domain containing family, member 1 gene DOID:0081298 oculopharyngodistal myopathy 2 ISO RGD:733913 D RGD:7240710 20200722 OMIM 68338 Gipc1 GIPC PDZ domain containing family, member 1 gene DOID:630 genetic disease ISO RGD:733913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68339 Fads2 fatty acid desaturase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 68339 Fads2 fatty acid desaturase 2 gene DOID:1059 intellectual disability ISO RGD:68475 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68339 Fads2 fatty acid desaturase 2 gene DOID:3312 bipolar disorder ISO RGD:68475 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 68339 Fads2 fatty acid desaturase 2 gene DOID:630 genetic disease ISO RGD:68475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68339 Fads2 fatty acid desaturase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 68339 Fads2 fatty acid desaturase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 68339 Fads2 fatty acid desaturase 2 gene DOID:9455 lipid storage disease ISO RGD:68475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 68340 Or6a2 olfactory receptor family 6 subfamily A member 2 gene DOID:630 genetic disease ISO RGD:1605112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:68478 D RGD:11561757|PMID:26677064 20180219 RGD 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1826 epilepsy ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:219 colon cancer ISO RGD:68478 D RGD:13432043|PMID:18663744 20170913 RGD 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68478 D RGD:14390084|PMID:15591514 20190219 RGD human cells in a mouse model 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68478 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:68478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:68479 D RGD:13432042|PMID:22733740 20170913 RGD 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:68478 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:21984976|PMID:25741868 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68478 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:7240710 20190327 OMIM 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:16357568|PMID:17576681|PMID:17675034|PMID:21984976|PMID:22729224|PMID:23745724|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28166811|PMID:28492532|PMID:28502725|PMID:33818783|PMID:34170046|PMID:9536098 68341 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9538 multiple myeloma ISO RGD:68478 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 68342 Slc7a3 solute carrier family 7 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733970 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 68342 Slc7a3 solute carrier family 7 member 3 gene DOID:1059 intellectual disability ISO RGD:733970 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 68342 Slc7a3 solute carrier family 7 member 3 gene DOID:12849 autistic disorder ISO RGD:733970 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68342 Slc7a3 solute carrier family 7 member 3 gene DOID:630 genetic disease ISO RGD:733970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68342 Slc7a3 solute carrier family 7 member 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0080773 delta beta-thalassemia ISO RGD:68481 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0111969 immunodeficiency 39 ISO RGD:68481 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:68481 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:68481 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:18836444 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:68481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:68481 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 68343 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:9008576 Wilms Tumor 2 ISO RGD:68481 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: Wilms tumor 2 PMID:18836444 68344 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:1520 colon carcinoma ISO RGD:68482 D RGD:11352739|PMID:8541345 20160718 RGD mRNA:increased expression:colonic mucosa (human) 68344 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:630 genetic disease ISO RGD:68482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68344 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9000998 Brain Injuries IEP D RGD:11041870|PMID:17936732 20160718 RGD mRNA:decreased expression:cerebral cortex, hippocampus (rat) 68344 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68482 D RGD:2311211|PMID:17634209 20160718 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human) 68344 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68483 D RGD:11352735|PMID:12171997 20160718 RGD mRNA:increased expression:kidney (mouse) 68344 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 68345 Hspb3 heat shock protein family B (small) member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68484 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32323160 68345 Hspb3 heat shock protein family B (small) member 3 gene DOID:0111200 distal hereditary motor neuronopathy type 1 ISO RGD:68484 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor 68345 Hspb3 heat shock protein family B (small) member 3 gene DOID:0111209 distal hereditary motor neuronopathy type 2C ISO RGD:68484 D RGD:7240710 20130221 OMIM 68345 Hspb3 heat shock protein family B (small) member 3 gene DOID:0111209 distal hereditary motor neuronopathy type 2C ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C PMID:20142617|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32397312 68345 Hspb3 heat shock protein family B (small) member 3 gene DOID:630 genetic disease ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68345 Hspb3 heat shock protein family B (small) member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68484 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:68486 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:68486 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:1612 breast cancer ISO RGD:68486 D RGD:27226689|PMID:25526449 20200521 RGD mRNA:increased expression:breast 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68486 D RGD:27226687|PMID:30727821 20200521 RGD 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:630 genetic disease ISO RGD:68486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:684 hepatocellular carcinoma ISO RGD:68486 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:68486 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1331936 D RGD:27226686|PMID:31089212 20200521 RGD 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1331936 D RGD:27226688|PMID:29763686 20200521 RGD 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68486 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 68346 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9007702 Carcinogenesis ISO RGD:68486 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68488 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:5419 schizophrenia ISO RGD:68488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:630 genetic disease ISO RGD:68488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:9000553 Developmental and Epileptic Encephalopathy 97 ISO RGD:68488 D RGD:7240710 20211020 OMIM 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:9000553 Developmental and Epileptic Encephalopathy 97 ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 97 PMID:25741868|PMID:33131106 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68347 Celf2 CUGBP, Elav-like family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68488 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 68348 Scamp2 secretory carrier membrane protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 68348 Scamp2 secretory carrier membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:68490 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68348 Scamp2 secretory carrier membrane protein 2 gene DOID:5419 schizophrenia ISO RGD:68490 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68348 Scamp2 secretory carrier membrane protein 2 gene DOID:630 genetic disease ISO RGD:68490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68348 Scamp2 secretory carrier membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:68490 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:18414213|PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:7240710 20140903 OMIM 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 8 PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:10369247|PMID:11038323|PMID:12907682|PMID:16199547|PMID:17576681|PMID:17694559|PMID:17940071|PMID:19246354|PMID:19269353|PMID:20887963|PMID:22028768|PMID:22474171|PMID:22907560|PMID:23543655|PMID:23729601|PMID:24434652|PMID:25122490|PMID:25741868|PMID:25989977|PMID:26139438|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28130116|PMID:28326187|PMID:28492532|PMID:28938747|PMID:29027299|PMID:29582157|PMID:29935645|PMID:30067310|PMID:30406445|PMID:30425642|PMID:31831369|PMID:32655042|PMID:32738419|PMID:32985417|PMID:33351340|PMID:34095689|PMID:9536098 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:7240710 20130425 OMIM 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7 PMID:11038323|PMID:11932325|PMID:17940071|PMID:19246354|PMID:25741868|PMID:26523528|PMID:27855412|PMID:28492532|PMID:30067310|PMID:32655042|PMID:34008892 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0090070 hypogonadotropic hypogonadism ISS RGD:68494 D RGD:13592920 20180518 MouseDO 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:7240710 20200408 OMIM 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 4 PMID:11932325|PMID:25741868|PMID:26523528|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:28033660|PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:7240710 20200408 OMIM 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 PMID:11932325|PMID:15070943|PMID:15472171|PMID:15579739|PMID:17200175|PMID:17694559|PMID:18414213|PMID:19246354|PMID:21691958|PMID:22028768|PMID:22474171|PMID:22549935|PMID:24434652|PMID:25122490|PMID:25326637|PMID:25741868|PMID:26523528|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:27899157|PMID:28033660|PMID:28492532|PMID:29095814|PMID:29935645|PMID:30425642|PMID:31513305|PMID:31745530|PMID:32738419|PMID:33202802 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:10892 hypospadias ISO RGD:68493 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:12336 male infertility ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20887963 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:14447 gonadal dysgenesis treatment IMP D RGD:12904919|PMID:16467257 20170620 RGD 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:14448 46,XY sex reversal ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10369247|PMID:11932325|PMID:15070943 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:1923 disorder of sexual development ISO RGD:68493 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:289 endometriosis ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17519303 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22028768|PMID:22907560|PMID:23154282|PMID:25122490|PMID:25383892|PMID:25741868|PMID:27169744|PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:630 genetic disease ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291911 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68493 D RGD:11554173 20200414 CTD CTD Direct Evidence: marker/mechanism 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:68493 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10369247 68350 Nr5a1 nuclear receptor subfamily 5, group A, member 1 gene DOID:905 Zellweger syndrome ISO RGD:68493 D RGD:11062374|PMID:16141001 20170620 RGD DNA:deletions, missense mutations, nonsense mutation: exon:multiple 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:68495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:68495 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:630 genetic disease ISO RGD:68495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68351 Scamp3 secretory carrier membrane protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68495 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:68497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0080916 erythroleukemia ISO RGD:68497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:7240710 20141015 OMIM 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Miller syndrome PMID:19915526|PMID:20220176|PMID:21346561|PMID:22692683|PMID:22967083|PMID:24033266|PMID:25741868|PMID:28492532 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:10923 sickle cell anemia ISO RGD:68497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:12241 beta thalassemia ISO RGD:68497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:12971 hereditary spherocytosis ISO RGD:68497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:38827 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:630 genetic disease ISO RGD:68497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:5132618|PMID:6331524 20110527 RGD protein:increased activity:liver (rat) 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9002457 Experimental Arthritis IMP D RGD:2316231|PMID:15182735 20100201 RGD 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9002850 Immediate Hypersensitivity IMP D RGD:2316235|PMID:9918599 20100201 RGD 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9004283 Transplant Rejection treatment IMP D RGD:11040447|PMID:8443191 20160308 RGD 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11040445|PMID:1723607 20160308 RGD 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5132591|PMID:1476792 20110526 RGD protein:decreased activity:mammary gland (rat) 68352 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9006647 Experimental Autoimmune Neuritis treatment IMP D RGD:11040446|PMID:11522581 20160308 RGD 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:68499 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:68499 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:10603 glucose intolerance ISO RGD:68499 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:68499 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:1793 pancreatic cancer ISO RGD:68499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20101243|PMID:26098869 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:219 colon cancer ISO RGD:68499 D RGD:9068941 20220901 RGD RNA:increased expression:colon (human) PMID:28710032|REF_RGD_ID:153344627 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:2237 hepatitis treatment ISO RGD:68500 D RGD:14401591|PMID:28406481 20190514 RGD 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:2843 long QT syndrome ISO RGD:68499 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:3781 anovulation ISO RGD:68499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18628394 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:68499 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:630 genetic disease ISO RGD:68499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:9003370 Dyslipidemias ISO RGD:68499 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:9005369 Hepatomegaly ISO RGD:68499 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68499 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:9007456 Female Infertility ISO RGD:68499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17409375 68353 Nr5a2 nuclear receptor subfamily 5, group A, member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68499 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ISO RGD:1345872 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome PMID:23620220|PMID:25558065|PMID:25741868|PMID:26842963|PMID:29796286|PMID:30296593|PMID:32214227|PMID:32860008 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1345872 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:10907 microcephaly ISO RGD:1345872 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:630 genetic disease ISO RGD:1345872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68354 Scamp4 secretory carrier membrane protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345872 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68355 Cubn cubilin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68502 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 68355 Cubn cubilin gene DOID:13382 megaloblastic anemia ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 68355 Cubn cubilin gene DOID:1909 melanoma ISO RGD:68502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 68355 Cubn cubilin gene DOID:630 genetic disease ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 68355 Cubn cubilin gene DOID:670 amphetamine abuse ISO RGD:68502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 68355 Cubn cubilin gene DOID:9002165 Diabetic Nephropathies IEP D RGD:1599655|PMID:17037740 20070209 RGD 68355 Cubn cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:7240710 20200819 OMIM 68355 Cubn cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, chronic benign PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29801666|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 68355 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:61796|PMID:10080186 19990101 RGD DNA:missense mutation:cds:p.P1297L (human) 68355 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:7240710 20130425 OMIM 68355 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 68355 Cubn cubilin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26040326|PMID:26467025|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:12849 autistic disorder ISO RGD:1343509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:1826 epilepsy ISS RGD:68504 D RGD:13592920 20200730 MouseDO 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1343509 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:5419 schizophrenia ISO RGD:1343509 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:630 genetic disease ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31439720|PMID:32020363|PMID:33390987 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:31439720|PMID:33390987 68356 Scamp5 secretory carrier membrane protein 5 gene DOID:9256 colorectal cancer ISO RGD:1343509 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 68357 Pdcd6ip programmed cell death 6 interacting protein gene DOID:630 genetic disease ISO RGD:68505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68357 Pdcd6ip programmed cell death 6 interacting protein gene DOID:8398 osteoarthritis ISO RGD:68505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 68357 Pdcd6ip programmed cell death 6 interacting protein gene DOID:9003562 Primary Autosomal Recessive Microcephaly 29 ISO RGD:68505 D RGD:7240710 20221012 OMIM 68358 Acan aggrecan gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:68507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 68358 Acan aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:11570524|PMID:16080123 20161216 RGD DNA:frameshift mutation:exon 68358 Acan aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:7240710 20130221 OMIM 68358 Acan aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type PMID:16080123|PMID:25741868|PMID:28492532 68358 Acan aggrecan gene DOID:10316 pneumoconiosis ISO RGD:68507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 68358 Acan aggrecan gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735902 D RGD:11570529|PMID:25646031 20161219 RGD 68358 Acan aggrecan gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:68507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 68358 Acan aggrecan gene DOID:1824 status epilepticus IEP D RGD:11570543|PMID:22934955 20161219 RGD 68358 Acan aggrecan gene DOID:2256 osteochondrodysplasia ISO RGD:735902 D RGD:11570525|PMID:7920633 20161216 RGD DNA:deletion:exon 68358 Acan aggrecan gene DOID:2377 multiple sclerosis ISO RGD:68507 D RGD:2315836|PMID:11764092 20100113 RGD protein:altered expression:central nervous system, plaque (human) 68358 Acan aggrecan gene DOID:2717 Bloom syndrome ISO RGD:68507 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68358 Acan aggrecan gene DOID:4480 achondroplasia ISS RGD:735902 D RGD:13592920 20180518 MouseDO OMIM:100800 68358 Acan aggrecan gene DOID:6000 congestive heart failure IEP D RGD:11570548|PMID:24595230 20161220 RGD mRNA:increased expression:myocardium 68358 Acan aggrecan gene DOID:630 genetic disease ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27870580|PMID:28492532 68358 Acan aggrecan gene DOID:7148 rheumatoid arthritis ISO RGD:68507 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 68358 Acan aggrecan gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:68507 D RGD:11570537|PMID:16507130 20161219 RGD protein:increased degradation:cartilage 68358 Acan aggrecan gene DOID:8398 osteoarthritis treatment IEP D RGD:11570544|PMID:21853458 20161219 RGD 68358 Acan aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:735902 D RGD:11570535|PMID:22833446 20161219 RGD 68358 Acan aggrecan gene DOID:84 osteochondritis dissecans ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteochondritis dissecans PMID:16080123|PMID:20137779|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532 68358 Acan aggrecan gene DOID:90 degenerative disc disease IEP D RGD:11570539|PMID:24285589 20161219 RGD mRNA:decreased expression:intervertebral disk 68358 Acan aggrecan gene DOID:90 degenerative disc disease treatment IDA D RGD:10043178|PMID:19063844 20150518 RGD associated with Renal Insufficiency 68358 Acan aggrecan gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2315837|PMID:14769391 20100113 RGD protein:altered expression:spinal cord (rat) 68358 Acan aggrecan gene DOID:9000998 Brain Injuries IEP D RGD:2315807|PMID:18511192 20100112 RGD mRNA:increased expression:fascia dentata (rat) 68358 Acan aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:7240710 20130221 OMIM 68358 Acan aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type PMID:19110214|PMID:25741868|PMID:28492532|PMID:30124491 68358 Acan aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:7240710 20160420 OMIM 68358 Acan aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans PMID:14216462|PMID:16080123|PMID:19110214|PMID:20137779|PMID:24762113|PMID:25741789|PMID:25741868|PMID:27710243|PMID:27870580|PMID:28331218|PMID:28492532|PMID:29769040|PMID:31841439|PMID:34922359 68358 Acan aggrecan gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:12879456|PMID:25821409 20170420 RGD 68358 Acan aggrecan gene DOID:9006496 Lordosis ISO RGD:735902 D RGD:1300269|PMID:9192671 19990101 RGD 68358 Acan aggrecan gene DOID:9007096 Stroke treatment IDA D RGD:11570545|PMID:24664200 20161219 RGD 68358 Acan aggrecan gene DOID:9007661 Dwarfism IEP D RGD:11570533|PMID:25736479 20161219 RGD protein:altered localization:cartilage 68358 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:68507 D RGD:11061419|PMID:25741789 20161216 RGD DNA:frameshift mutation:exon:c.5391delG (human) 68358 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:68507 D RGD:11570526|PMID:24762113 20161216 RGD DNA:frameshift mutation, missense mutation, splice-site mutation:exon:c.272delA, c.2026+1G>A, c.7064T>C (p.L2355P) (human) 68358 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:68507 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Short stature 68358 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:735902 D RGD:11570531|PMID:18678883 20161219 RGD mRNA:decreased expression:costal cartilage 68358 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:735902 D RGD:1300269|PMID:9192671 19990101 RGD 68358 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:735902 D RGD:734826|PMID:9988279 20161219 RGD protein:decreased expression:cartilage 68358 Acan aggrecan gene DOID:9008331 Tendon Injuries IEP D RGD:2315073|PMID:19955224 20100112 RGD mRNA:increased expression:patellar ligament (rat) 68358 Acan aggrecan gene DOID:9256 colorectal cancer ISO RGD:68507 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 68358 Acan aggrecan gene DOID:9277 primary cerebellar degeneration ISO RGD:735902 D RGD:1300269|PMID:9192671 19990101 RGD 68359 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:12894 Sjogren's syndrome ISO RGD:68511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 68359 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:630 genetic disease ISO RGD:68511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68359 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:684 hepatocellular carcinoma ISO RGD:68511 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 68359 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:8893 psoriasis ISO RGD:68511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 68359 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:9002234 Pituitary Neoplasms IMP D RGD:68295|PMID:9092795 20090226 RGD 68361 Lxn latexin gene DOID:1909 melanoma ISO RGD:737325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 68361 Lxn latexin gene DOID:630 genetic disease ISO RGD:737325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68361 Lxn latexin gene DOID:9003882 Chromosomal Instability ISO RGD:737325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 68362 Lrat lecithin retinol acyltransferase gene DOID:0050572 cone-rod dystrophy ISO RGD:68515 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 68362 Lrat lecithin retinol acyltransferase gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25324289|PMID:25472526|PMID:25741868|PMID:28492532|PMID:29186038|PMID:29844330|PMID:30190494|PMID:32865313 68362 Lrat lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:7240710 20130425 OMIM 68362 Lrat lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED PMID:11381255|PMID:17011878|PMID:18055821|PMID:22025579|PMID:22559933|PMID:22570351|PMID:24265693|PMID:25741868|PMID:28492532|PMID:29186038|PMID:32865313 68362 Lrat lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 68362 Lrat lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:1599754|PMID:11381255 20070213 RGD early-onset severe retinal dystrophy, OMIM:604863 68362 Lrat lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:8547535|PMID:23701314 20140217 RGD 68362 Lrat lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22025579|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:30718709 68362 Lrat lecithin retinol acyltransferase gene DOID:10608 celiac disease ISO RGD:68515 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 68362 Lrat lecithin retinol acyltransferase gene DOID:14791 Leber congenital amaurosis ISO RGD:68515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19339306 68362 Lrat lecithin retinol acyltransferase gene DOID:14791 Leber congenital amaurosis ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:24033266|PMID:25741868|PMID:28492532 68362 Lrat lecithin retinol acyltransferase gene DOID:3007 breast ductal carcinoma ISO RGD:68515 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 68362 Lrat lecithin retinol acyltransferase gene DOID:630 genetic disease ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68362 Lrat lecithin retinol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:68515 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 68362 Lrat lecithin retinol acyltransferase gene DOID:705 Leber hereditary optic neuropathy ISO RGD:68515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16250670|PMID:17011878 68362 Lrat lecithin retinol acyltransferase gene DOID:8501 fundus dystrophy ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 68362 Lrat lecithin retinol acyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68362 Lrat lecithin retinol acyltransferase gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 68362 Lrat lecithin retinol acyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 68362 Lrat lecithin retinol acyltransferase gene DOID:9008296 Eye Abnormalities ISO RGD:68515 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 68362 Lrat lecithin retinol acyltransferase gene DOID:9008550 Vitamin A Deficiency ISO RGD:68515 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16174770 68363 Hal histidine ammonia lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:7240710 20130221 OMIM 68363 Hal histidine ammonia lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine PMID:15173056|PMID:15806399|PMID:23361591|PMID:23806086|PMID:24088041|PMID:24725463|PMID:25575548|PMID:25741868|PMID:27453504|PMID:28492532 68363 Hal histidine ammonia lyase gene DOID:630 genetic disease ISO RGD:68517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68363 Hal histidine ammonia lyase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68517 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68519 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:7240710 20140903 OMIM 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16 PMID:21842496|PMID:24088041|PMID:25175561|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:30079398|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33618928 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:68519 D RGD:7240710 20151028 OMIM 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:16199547|PMID:21031579|PMID:21842496|PMID:24088041|PMID:25175561|PMID:25261976|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26366463|PMID:26467025|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28160950|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:29411640|PMID:30079398|PMID:30266269|PMID:30311446|PMID:31324122|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33369814|PMID:33618928 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:10914 amnestic disorder ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12028363 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16204638 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:630 genetic disease ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21842496|PMID:25175561|PMID:25704016|PMID:26078401|PMID:26467025|PMID:27042935|PMID:27402882|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:31696229|PMID:32055286|PMID:33020464|PMID:33369814 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:8927 learning disability ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15451042 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15451042 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:68519 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:68519 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12736327|PMID:16132061 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:68519 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15451042 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 68364 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9870 galactosemia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 68365 Cox7a2 cytochrome c oxidase subunit 7A2 gene DOID:630 genetic disease ISO RGD:1342607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68366 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:10283 prostate cancer ISO RGD:68523 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 68366 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:630 genetic disease ISO RGD:68523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68366 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68523 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:0014667 disease of metabolism ISO RGD:68525 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Metabolic disease 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:7240710 20130425 OMIM 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10089284|PMID:10220141|PMID:10319579|PMID:10585341|PMID:10874306|PMID:11388593|PMID:11438997|PMID:11694255|PMID:11916314|PMID:16199547|PMID:16850690|PMID:16917893|PMID:17001642|PMID:17160954|PMID:17576681|PMID:18060820|PMID:18505119|PMID:19280650|PMID:19350512|PMID:19823873|PMID:19830588|PMID:20059486|PMID:21542064|PMID:21933604|PMID:22237589|PMID:23138986|PMID:23942198|PMID:25087612|PMID:25304915|PMID:25418970|PMID:25456745|PMID:25525159|PMID:25741868|PMID:25758715|PMID:26830550|PMID:27243974|PMID:27246466|PMID:27629047|PMID:28057123|PMID:28378820|PMID:28492532|PMID:28915855|PMID:29499199|PMID:29577258|PMID:29685341|PMID:30001213|PMID:30109838|PMID:30626930|PMID:30853107|PMID:30926181|PMID:31332730|PMID:32651154|PMID:32905092|PMID:3297709|PMID:33234470|PMID:33822819|PMID:35140743|PMID:7493990|PMID:7563095|PMID:7698774|PMID:8178819|PMID:8707300|PMID:9159737|PMID:9222757|PMID:9450907|PMID:9536098 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:1059 intellectual disability ISO RGD:68525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:1826 epilepsy ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:28492532|PMID:9536098 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:630 genetic disease ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11388593|PMID:16917893|PMID:17576681|PMID:18505119|PMID:22237589|PMID:23138986|PMID:25741868|PMID:27243974|PMID:28492532|PMID:29499199|PMID:29577258|PMID:32651154|PMID:33234470|PMID:9536098 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:68525 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:9008812 Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency PMID:10220141|PMID:22237589|PMID:25741868|PMID:26830550|PMID:7493990|PMID:8178819 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:9281 phenylketonuria ISO RGD:68525 D RGD:1601576|PMID:8178819 20070425 RGD DNA:point mutation:exon:R25Q, R16C 68367 Pts 6-pyruvoyl-tetrahydropterin synthase gene DOID:9281 phenylketonuria ISO RGD:68525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:10319579|PMID:11388593|PMID:11694255|PMID:19350512|PMID:21933604|PMID:22237589|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7493990|PMID:8707300|PMID:9450907 68368 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0050886 Troyer syndrome ISO RGD:68527 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:24122788 68368 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:7240710 20170419 OMIM 68368 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 PMID:23611888|PMID:24078737|PMID:25741868|PMID:27980096|PMID:28492532 68368 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:5419 schizophrenia ISO RGD:68527 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68368 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:630 genetic disease ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10725919|PMID:15970596|PMID:28492532|PMID:9285588 68368 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68527 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 68369 Rab11b RAB11B, member RAS oncogene family gene DOID:0080490 mucolipidosis type IV ISO RGD:68529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 68369 Rab11b RAB11B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:68529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68369 Rab11b RAB11B, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 68369 Rab11b RAB11B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68529 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29106825 68369 Rab11b RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:7240710 20190315 OMIM 68369 Rab11b RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter PMID:17576681|PMID:25741868|PMID:28492532|PMID:29106825|PMID:9536098 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68531 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:7240710 20200311 OMIM 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Familial hypertryptophanemia PMID:28285122 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:10652 Alzheimer's disease treatment ISO RGD:68532 D RGD:13601984|PMID:27190010 20180525 RGD 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:68531 D RGD:1358595|PMID:8873217 19990101 RGD 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:12849 autistic disorder ISO RGD:68531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14755447 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:630 genetic disease ISO RGD:68531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:9005587 Starvation ISO RGD:68531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7306070 68370 Tdo2 tryptophan 2,3-dioxygenase gene DOID:9005930 Endotoxemia severity ISO RGD:68532 D RGD:39939032|PMID:24930766 20201021 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0050685 small cell carcinoma ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20946520 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0060041 autism spectrum disorder ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0080162 lupus nephritis ISO RGD:68534 D RGD:7245502|PMID:17283580 20130607 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0080322 polycystic kidney disease IEP D RGD:7245545|PMID:22160773 20130610 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:25741868 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0080855 Parkinsonism treatment ISO RGD:68534 D RGD:10040992|PMID:20089925 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0110861 autosomal recessive polycystic kidney disease IDA D RGD:10040950|PMID:24498161 20150506 RGD protein:increased serine phosphorylation:cholangiocyte 68371 Mtor mechanistic target of rapamycin kinase gene DOID:0111936 immunodeficiency 14 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 68371 Mtor mechanistic target of rapamycin kinase gene DOID:10283 prostate cancer treatment ISO RGD:68533 D RGD:10041034|PMID:23094058 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1059 intellectual disability ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 68371 Mtor mechanistic target of rapamycin kinase gene DOID:10762 portal hypertension treatment IMP D RGD:10041031|PMID:24404143 20150508 RGD associated with Liver Cirrhosis 68371 Mtor mechanistic target of rapamycin kinase gene DOID:10763 hypertension IDA D RGD:10041025|PMID:23323219 20150508 RGD protein:increased serine phosphorylation:kidney 68371 Mtor mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 68371 Mtor mechanistic target of rapamycin kinase gene DOID:10952 nephritis ISO RGD:68534 D RGD:7245508|PMID:22696604 20130607 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer ISO RGD:68533 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 68371 Mtor mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:68534 D RGD:10040979|PMID:19261747 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:11446 sciatic neuropathy IMP D RGD:10041037|PMID:20452291 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:12118 pulmonary hemosiderosis ISO RGD:68533 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary hemosiderosis PMID:25741868 68371 Mtor mechanistic target of rapamycin kinase gene DOID:13139 crescentic glomerulonephritis IMP D RGD:7245940|PMID:21403644 20130612 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:68533 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 68371 Mtor mechanistic target of rapamycin kinase gene DOID:13949 interstitial cystitis ISO RGD:68533 D RGD:7245526|PMID:22738385 20130610 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1793 pancreatic cancer IMP D RGD:10040959|PMID:23149918 20150506 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus IDA D RGD:7175521|PMID:23211629 20150508 RGD protein:increased serine phosphorylation:hippocampus 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus IMP D RGD:10041026|PMID:23724051 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1826 epilepsy ISO RGD:68533 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:27830187|PMID:28492532 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1909 melanoma ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:1936 atherosclerosis ameliorates ISO RGD:68534 D RGD:243048424|PMID:30529164 20230330 RGD ApoE knockout mice 68371 Mtor mechanistic target of rapamycin kinase gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:224 transient cerebral ischemia treatment IEP D RGD:155791663|PMID:30712471 20230104 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:2671 transitional cell carcinoma ISO RGD:68533 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:24625776 68371 Mtor mechanistic target of rapamycin kinase gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:68533 D RGD:7245946|PMID:21444868 20130613 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:28 endocrine system disease ISO RGD:68533 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 68371 Mtor mechanistic target of rapamycin kinase gene DOID:299 adenocarcinoma ISO RGD:68533 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:18058806|PMID:33129824 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3021 acute kidney failure IMP D RGD:7245507|PMID:23022334 20130607 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3068 glioblastoma ISO RGD:68533 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3068 glioblastoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3070 high grade glioma severity ISO RGD:68533 D RGD:13702868|PMID:20878445 20180720 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3328 temporal lobe epilepsy IMP D RGD:10041000|PMID:19474323 20150507 RGD associated with Status Epilepticus 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3371 chondrosarcoma disease_progression IMP D RGD:10040952|PMID:22761648 20150506 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction IEP D RGD:10040971|PMID:24583056 20150506 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:10041016|PMID:21185267 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:10040974|PMID:23777415 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3602 toxic encephalopathy ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16955484 68371 Mtor mechanistic target of rapamycin kinase gene DOID:363 uterine cancer ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:68533 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3770 pulmonary fibrosis ISO RGD:68533 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:28936961 68371 Mtor mechanistic target of rapamycin kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:68533 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 68371 Mtor mechanistic target of rapamycin kinase gene DOID:4450 renal cell carcinoma ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 68371 Mtor mechanistic target of rapamycin kinase gene DOID:4450 renal cell carcinoma ISO RGD:68533 D RGD:7207420|PMID:21881486 20130611 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:4450 renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 68371 Mtor mechanistic target of rapamycin kinase gene DOID:4451 renal carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:17360675|PMID:20190810|PMID:24622468|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27830187|PMID:29281825 68371 Mtor mechanistic target of rapamycin kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:4905 pancreatic carcinoma treatment ISO RGD:68534 D RGD:11570510|PMID:25425965 20161215 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5199 ureteral obstruction IEP D RGD:10041001|PMID:22085202 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68533 D RGD:13825123|PMID:28280736 20181114 RGD DNA:SNP: :rs2536(human) 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia treatment IMP D RGD:10041022|PMID:23027611 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:68533 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction IDA D RGD:10041035|PMID:20352476 20150508 RGD protein:decreased serine phosphorylation:heart 68371 Mtor mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction treatment IDA D RGD:10041040|PMID:23773982 20150508 RGD associated with Diabetes Mellitus, Experimental 68371 Mtor mechanistic target of rapamycin kinase gene DOID:6000 congestive heart failure ISO RGD:68533 D RGD:10003169|PMID:20861467 20150505 RGD mRNA, protein:increased expression:heart 68371 Mtor mechanistic target of rapamycin kinase gene DOID:630 genetic disease ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 68371 Mtor mechanistic target of rapamycin kinase gene DOID:6432 pulmonary hypertension IMP D RGD:10041039|PMID:23470622 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 68371 Mtor mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:68533 D RGD:152995471|PMID:25371154 20220623 RGD mRNA, protein:increased expression:liver (human) 68371 Mtor mechanistic target of rapamycin kinase gene DOID:767 muscular atrophy treatment IMP D RGD:10041027|PMID:19260063 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:783 end stage renal disease treatment IMP D RGD:10040968|PMID:22427849 20150506 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis ISO RGD:68534 D RGD:10003163|PMID:24651621 20150505 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis treatment ISO RGD:68534 D RGD:10003165|PMID:22084394 20150505 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:8411 kidney angiomyolipoma treatment ISO RGD:68533 D RGD:7245506|PMID:23054313 20130607 RGD associated with Tuberous Sclerosis 68371 Mtor mechanistic target of rapamycin kinase gene DOID:8725 vascular dementia IEP D RGD:10401142|PMID:23053837 20150929 RGD protein:decreased expression:hippocampus 68371 Mtor mechanistic target of rapamycin kinase gene DOID:8923 skin melanoma ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68533 D RGD:7245504|PMID:23195001 20130607 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9000039 Spinal Cord Injuries treatment IMP D RGD:10040962|PMID:20678995 20150506 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:68533 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9000310 Lung Injury ISO RGD:68533 D RGD:7245567|PMID:22483544 20130611 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9000547 CEBALID Syndrome ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22729223|PMID:23636326|PMID:24625776|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29051493|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:68534 D RGD:10040985|PMID:20008564 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9000965 Neoplasm Metastasis IMP D RGD:10040959|PMID:23149918 20150506 RGD associated with Pancreatic Neoplasms 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:10040998|PMID:25454463 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9001708 Hemorrhagic Shock treatment IDA D RGD:10041042|PMID:24204984 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002153 Chronic Allograft Dysfunction treatment IDA D RGD:10041002|PMID:23985719 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies IDA D RGD:10003168|PMID:23827786 20150505 RGD associated with Diabetes Mellitus, Experimental 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68534 D RGD:7245564|PMID:21606597 20130611 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:68533 D RGD:13506787|PMID:28536139 20180214 RGD DNA:SNP,haplotype: :rs7212142(human) 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002211 Hyperalgesia IMP D RGD:10040983|PMID:24382350 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:68533 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002457 Experimental Arthritis treatment IEP D RGD:10041007|PMID:22391142 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002676 Cerebral Hemorrhage treatment IMP D RGD:10041041|PMID:24602288 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:68533 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:20138251|PMID:30705370 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:68533 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18058806 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9003566 Mesothelioma ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358348 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9003816 Macrocephaly ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:28492532|PMID:33077954|PMID:34197453 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9003936 Cardiomegaly IMP D RGD:10003169|PMID:20861467 20150505 RGD associated with Aortic Valve Stenosis 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:7240710 20151209 OMIM 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MINDS SYNDROME | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Smith-Kingsmore syndrome PMID:17576681|PMID:21210909|PMID:23322780|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27279227|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28554332|PMID:28892148|PMID:29051493|PMID:29281825|PMID:31441589|PMID:31444548|PMID:32581362|PMID:33077954|PMID:9536098 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68533 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9004484 Sepsis IDA D RGD:10041013|PMID:20577146 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy IDA D RGD:1582609|PMID:15367823 20061115 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68533 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:68534 D RGD:11568678|PMID:19966866 20161215 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9005233 Experimental Mammary Neoplasms IMP D RGD:10040957|PMID:22349822 20150506 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9005290 Diabetes Mellitus, New-Onset after Transplantation ISO RGD:68533 D RGD:10040997|PMID:22645144 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9005369 Hepatomegaly ISO RGD:68533 D RGD:11554173 20210308 CTD CTD Direct Evidence: therapeutic PMID:30641053 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9005372 Inflammation treatment IMP D RGD:7175521|PMID:23211629 20150508 RGD associated with Status Epilepticus 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:13506787|PMID:28536139 20180214 RGD protein:hyperphosphorylation:muscle 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9006102 Right Ventricular Hypertrophy treatment IMP D RGD:10041003|PMID:21357504 20150507 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9006281 Temporomandibular Joint Disorders IDA D RGD:10041017|PMID:23386193 20150508 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9006599 Hypertriglyceridemia IMP D RGD:10040984|PMID:20566415 20150507 RGD associated with Insulin Resistance 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:68534 D RGD:156430337|PMID:36044268 20230228 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:68533 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9007730 Burns IDA D RGD:10041043|PMID:20594757 20150508 RGD protein:increased serine phosphorylation:skeletal muscle 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9007748 Retinal Neovascularization ISO RGD:68534 D RGD:10003164|PMID:25366488 20150505 RGD associated with Oxygen-Induced Retinopathy 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008237 Hemimegalencephaly ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:24631838|PMID:25799227|PMID:26619011|PMID:28864461|PMID:29281825 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008394 Drug-Induced Dyskinesia treatment IMP D RGD:10040953|PMID:23938307 20150506 RGD associated with Parkinsonian Disorders 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:7240710 20190315 OMIM 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:17360675|PMID:17576681|PMID:20190810|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:25878179|PMID:26018084|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29281825|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954|PMID:9536098 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:68533 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20190810|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68533 D RGD:7245474|PMID:23678040 20130605 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68534 D RGD:7245474|PMID:23678040 20130605 RGD 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008939 Breast Neoplasms ISO RGD:68533 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9008939 Breast Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26619011|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus IEP D RGD:13506788|PMID:23165862 20180214 RGD mRNA,protein:increased expression:hippocampus 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:68533 D RGD:13506787|PMID:28536139 20180214 RGD DNA:SNP: :rs7212142(human) 68371 Mtor mechanistic target of rapamycin kinase gene DOID:9970 obesity IEP D RGD:11570513|PMID:25807795 20161215 RGD mRNA, protein:decreased expression:hypothalamus 68372 Ctbp2 C-terminal binding protein 2 gene DOID:630 genetic disease ISO RGD:68535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68372 Ctbp2 C-terminal binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68535 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 68372 Ctbp2 C-terminal binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68535 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 68372 Ctbp2 C-terminal binding protein 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:68535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia PMID:25741868 68372 Ctbp2 C-terminal binding protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68535 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:0050770 polycystic liver disease ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:68537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:68537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:68537 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:28492532 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 68373 Ruvbl1 RuvB-like AAA ATPase 1 gene DOID:9270 alkaptonuria ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 68374 Cox4i1 cytochrome c oxidase subunit 4i1 gene DOID:11801 protein-energy malnutrition IEP D RGD:2301376|PMID:18725894 20081009 RGD mRNA:increased expression:skeletal muscle 68374 Cox4i1 cytochrome c oxidase subunit 4i1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68539 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 68374 Cox4i1 cytochrome c oxidase subunit 4i1 gene DOID:630 genetic disease ISO RGD:68539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68374 Cox4i1 cytochrome c oxidase subunit 4i1 gene DOID:9001257 Mitochondrial Complex IV Deficiency, Nuclear Type 16 ISO RGD:68539 D RGD:7240710 20201111 OMIM 68374 Cox4i1 cytochrome c oxidase subunit 4i1 gene DOID:9001257 Mitochondrial Complex IV Deficiency, Nuclear Type 16 ISO RGD:68539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 PMID:25741868|PMID:28492532|PMID:31290619 68375 Dusp12 dual specificity phosphatase 12 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:731810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 68375 Dusp12 dual specificity phosphatase 12 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 68375 Dusp12 dual specificity phosphatase 12 gene DOID:1540 parathyroid carcinoma ISO RGD:731810 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68375 Dusp12 dual specificity phosphatase 12 gene DOID:630 genetic disease ISO RGD:731810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68375 Dusp12 dual specificity phosphatase 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731810 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68376 Dpys dihydropyrimidinase gene DOID:0111590 Cohen syndrome ISO RGD:68541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 68376 Dpys dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:7240710 20130221 OMIM 68376 Dpys dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dihydropyrimidinase deficiency PMID:17383919|PMID:17576681|PMID:18075467|PMID:20362666|PMID:23732435|PMID:25741868|PMID:25915935|PMID:28492532|PMID:28642038|PMID:29054612|PMID:30384990|PMID:33179229|PMID:9266350|PMID:9536098|PMID:9718352 68376 Dpys dihydropyrimidinase gene DOID:630 genetic disease ISO RGD:68541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20362666|PMID:25741868|PMID:26244261|PMID:28492532|PMID:28642038 68376 Dpys dihydropyrimidinase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:68541 D RGD:1599001|PMID:9718352 20070111 RGD dihydropyrimidinuria 68376 Dpys dihydropyrimidinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68541 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68377 Scrg1 stimulator of chondrogenesis 1 gene DOID:630 genetic disease ISO RGD:68543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68377 Scrg1 stimulator of chondrogenesis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68543 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68378 Bcam basal cell adhesion molecule (Lutheran blood group) gene DOID:630 genetic disease ISO RGD:68545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:68547 D RGD:8554872 20160209 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:68547 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital heart disease 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:10412057|PMID:11720783 20151113 RGD 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:2921 glomerulonephritis IEP D RGD:7387262|PMID:16282705 20151113 RGD 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:630 genetic disease ISO RGD:68547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68547 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68547 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:7240710 20210728 OMIM 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE PMID:25741868|PMID:33991472 68379 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302087|PMID:17574405 20151116 RGD 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:19656777|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050593 primary congenital glaucoma ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:25741868 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0060305 megalocornea ISO RGD:68549 D RGD:156451371|PMID:22025892 20230307 RGD associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:68549 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:23218701|PMID:23401661|PMID:28492532 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68549 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1068 juvenile glaucoma ISO RGD:68549 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:24033266 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1070 primary open angle glaucoma ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:11211 buphthalmos ISO RGD:68549 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:19656777 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:12930 dilated cardiomyopathy treatment IMP D RGD:156431214|PMID:31512380 20230306 RGD 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:13641 exfoliation syndrome ISO RGD:68549 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudoexfoliation glaucoma PMID:23401661|PMID:25741868|PMID:28492532 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:14199 posterior dislocation of lens ISO RGD:68550 D RGD:156451375|PMID:24908666 20230307 RGD 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:14323 Marfan syndrome ISO RGD:68549 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Marfan syndrome 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1686 glaucoma ISO RGD:68549 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19361779|PMID:27149523 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:156451376|PMID:22587491 20230307 RGD associated with dyspnea;protein:increased expression:plasma (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:213230162|PMID:32478206 20230323 RGD mRNA:increased expression:heart (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:630 genetic disease ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9000669 Ventricular Dysfunction, Right IEP D RGD:156451373|PMID:30213070 20230307 RGD associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9001251 Microspherophakia ISO RGD:68549 D RGD:156451653|PMID:20617341 20230308 RGD DNA:frameshift mutation:CDS:p.H1816PfsX28 (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9001251 Microspherophakia ISO RGD:68549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microspherophakia PMID:19361779|PMID:20179738|PMID:20617341|PMID:21081970|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:68549 D RGD:8554872 20191231 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:22539340 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:68550 D RGD:156451654|PMID:29950403 20230308 RGD mRNA:increased expression:heart (mouse) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:156431212|PMID:19656777 20230306 RGD DNA:frameshift mutations:CDS:p.S472fsX3, p.Y1793fsX55 (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:156431215|PMID:32165823 20230307 RGD DNA:missense mutations, frameshift mutation:CDS:p.D1010N, p.C1757Y, p.Q1143fs*35 (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:156451372|PMID:28384041 20230307 RGD DNA:nonsense mutation:CDS:p.W807X (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:156451378|PMID:19361779 20230307 RGD DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:7240710 20130221 OMIM 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D PMID:17576681|PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:27409795|PMID:28492532|PMID:9536098 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:68550 D RGD:213230163|PMID:29510080 20230323 RGD mRNA:increased expression:heart (mouse) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9004201 Ectopia Lentis ISO RGD:68550 D RGD:156431213|PMID:33039488 20230306 RGD 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:7240710 20140911 OMIM 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:68549 D RGD:156451374|PMID:17343875 20230307 RGD mRNA:increased expression:myocardium (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:68549 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B PMID:16199547|PMID:17576681|PMID:19361779|PMID:22025892|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:68550 D RGD:213230159|PMID:31364721 20230323 RGD mRNA:increased expression:heart (mouse) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:243049250|PMID:22539340 20230406 RGD DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) (human) 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:7240710 20140903 OMIM 68380 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 PMID:22539340|PMID:23401661|PMID:25741868|PMID:28492532 68381 Ddx25 DEAD-box helicase 25 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 68381 Ddx25 DEAD-box helicase 25 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353633 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 68381 Ddx25 DEAD-box helicase 25 gene DOID:14227 azoospermia ISO RGD:1353633 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia 68381 Ddx25 DEAD-box helicase 25 gene DOID:5419 schizophrenia ISO RGD:1353633 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68381 Ddx25 DEAD-box helicase 25 gene DOID:630 genetic disease ISO RGD:1353633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68381 Ddx25 DEAD-box helicase 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353633 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 68381 Ddx25 DEAD-box helicase 25 gene DOID:9007661 Dwarfism ISO RGD:1353633 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 68382 Cacnb1 calcium voltage-gated channel auxiliary subunit beta 1 gene DOID:630 genetic disease ISO RGD:68552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis IEP D RGD:11040514|PMID:9471053 20160309 RGD protein:increased activity:kidney: 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68554 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:9471053 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:68554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:11040510|PMID:15287948 20160309 RGD DNA:mutations:splice site,exon: 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:11040511|PMID:16720838 20160309 RGD DNA:missense mutations:cds:P.D31N,W157R,T157K(human) 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:7240710 20130221 OMIM 68383 Ggcx gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT PMID:10934213|PMID:11071668|PMID:15287948|PMID:16720838|PMID:17144668|PMID:18800149|PMID:20075945|PMID:2145029|PMID:25264593|PMID:25741868|PMID:28125048|PMID:28492532|PMID:31727138|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9845520 68383 Ggcx gamma-glutamyl carboxylase gene DOID:11249 vitamin K deficiency bleeding no_association ISO RGD:68554 D RGD:11040513|PMID:11154138 20160309 RGD 68383 Ggcx gamma-glutamyl carboxylase gene DOID:1247 blood coagulation disease ISO RGD:68554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 68383 Ggcx gamma-glutamyl carboxylase gene DOID:1588 thrombocytopenia ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 68383 Ggcx gamma-glutamyl carboxylase gene DOID:2213 hemorrhagic disease ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 68383 Ggcx gamma-glutamyl carboxylase gene DOID:2213 hemorrhagic disease ISO RGD:68555 D RGD:11040512|PMID:24520408 20160309 RGD 68383 Ggcx gamma-glutamyl carboxylase gene DOID:3393 coronary artery disease ISO RGD:68554 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 68383 Ggcx gamma-glutamyl carboxylase gene DOID:630 genetic disease ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68383 Ggcx gamma-glutamyl carboxylase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:68554 D RGD:1598791|PMID:9845520 20061219 RGD 68383 Ggcx gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:11040509|PMID:17110937 20160309 RGD DNA:mutations: : 68383 Ggcx gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:7240710 20130221 OMIM 68383 Ggcx gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency PMID:17110937|PMID:17576681|PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:29175035|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9536098|PMID:9615107 68383 Ggcx gamma-glutamyl carboxylase gene DOID:9004931 Coagulation Protein Disorders ISO RGD:68554 D RGD:1598791|PMID:9845520 20061219 RGD 68384 Ccnd1 cyclin D1 gene DOID:0001816 angiosarcoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 68384 Ccnd1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:11352827|PMID:24060591 20160720 RGD mRNA:increased expression:bone marrow, peripheral blood (human) 68384 Ccnd1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:22383795|PMID:26174628 68384 Ccnd1 cyclin D1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:68556 D RGD:11535375|PMID:26581505 20220825 RGD protein:increased expression:tongue (human) 68384 Ccnd1 cyclin D1 gene DOID:0050902 medulloblastoma ISO RGD:68557 D RGD:13681932|PMID:16943274 20180712 RGD 68384 Ccnd1 cyclin D1 gene DOID:0050912 colon adenoma severity ISO RGD:68556 D RGD:151665121|PMID:11375949 20220311 RGD 68384 Ccnd1 cyclin D1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:68556 D RGD:11353786|PMID:25169547 20160721 RGD DNA:snp:exon:c.870G>A (human) 68384 Ccnd1 cyclin D1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 68384 Ccnd1 cyclin D1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:68556 D RGD:2289132|PMID:14612904 20080123 RGD protein:decreased expression:breast 68384 Ccnd1 cyclin D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 68384 Ccnd1 cyclin D1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68557 D RGD:11353783|PMID:23169640 20160721 RGD mRNA:increased expression:B cell (mouse) 68384 Ccnd1 cyclin D1 gene DOID:10283 prostate cancer IMP D RGD:2289128|PMID:17908994 20080123 RGD 68384 Ccnd1 cyclin D1 gene DOID:1059 intellectual disability ISO RGD:68556 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68384 Ccnd1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 68384 Ccnd1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:13602096|PMID:12372886 20180531 RGD protein:increased expression:bladder 68384 Ccnd1 cyclin D1 gene DOID:11624 penile benign neoplasm ISO RGD:68556 D RGD:2289129|PMID:17695500 20080123 RGD protein:increased expression:nucleus 68384 Ccnd1 cyclin D1 gene DOID:11832 visual epilepsy IEP D RGD:2289147|PMID:16696308 20080124 RGD protein:increased expression:hippocampus, cerebral cortex 68384 Ccnd1 cyclin D1 gene DOID:1240 leukemia ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10602166 68384 Ccnd1 cyclin D1 gene DOID:13543 hyperparathyroidism ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21541686 68384 Ccnd1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68556 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 68384 Ccnd1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68556 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 68384 Ccnd1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 68384 Ccnd1 cyclin D1 gene DOID:1749 squamous cell carcinoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 68384 Ccnd1 cyclin D1 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:68556 D RGD:2296032|PMID:18548202 20080624 RGD associated with Cervix Neoplasms;DNA:polymorphism: :870A>G 68384 Ccnd1 cyclin D1 gene DOID:1793 pancreatic cancer ISO RGD:68556 D RGD:13451541|PMID:22722256 20171116 RGD human cells in a mouse model 68384 Ccnd1 cyclin D1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:68557 D RGD:13452385|PMID:11159909 20171208 RGD mRNA, protein:increased expression:pancreas (mouse) 68384 Ccnd1 cyclin D1 gene DOID:1793 pancreatic cancer treatment ISO RGD:68556 D RGD:13462059|PMID:17541034 20171208 RGD human cells in a mouse model 68384 Ccnd1 cyclin D1 gene DOID:1824 status epilepticus treatment IDA D RGD:11352818|PMID:24051278 20160720 RGD 68384 Ccnd1 cyclin D1 gene DOID:1875 impotence IEP D RGD:1625408|PMID:17137605 20080124 RGD mRNA:decreased expression:penis erectile tissue 68384 Ccnd1 cyclin D1 gene DOID:2615 papilloma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 68384 Ccnd1 cyclin D1 gene DOID:2671 transitional cell carcinoma IEP D RGD:2289144|PMID:16896691 20080124 RGD mRNA, protein:increased expression:urinary bladder 68384 Ccnd1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 68384 Ccnd1 cyclin D1 gene DOID:299 adenocarcinoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 68384 Ccnd1 cyclin D1 gene DOID:305 carcinoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 68384 Ccnd1 cyclin D1 gene DOID:3069 malignant astrocytoma severity ISO RGD:68556 D RGD:13681931|PMID:10419598 20180712 RGD 68384 Ccnd1 cyclin D1 gene DOID:3070 high grade glioma ISO RGD:68557 D RGD:13702091|PMID:21844184 20180717 RGD 68384 Ccnd1 cyclin D1 gene DOID:3070 high grade glioma disease_progression ISO RGD:68556 D RGD:13702091|PMID:21844184 20180717 RGD 68384 Ccnd1 cyclin D1 gene DOID:3070 high grade glioma susceptibility ISO RGD:68556 D RGD:13681930|PMID:22304571 20180712 RGD 68384 Ccnd1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:11353788|PMID:12448002 20160721 RGD DNA:amplification:cds (human) 68384 Ccnd1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:2289133|PMID:12203362 20080123 RGD protein:increased expression:breast 68384 Ccnd1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:68556 D RGD:13462062|PMID:22939953 20171208 RGD protein:increased expression:pancreas (human) 68384 Ccnd1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68556 D RGD:13462050|PMID:25470788 20171207 RGD DNA:snp:exon:c.870G>A (human) 68384 Ccnd1 cyclin D1 gene DOID:3571 liver cancer disease_progression IEP D RGD:151356973|PMID:11797828 20220222 RGD protein:increased expression:liver (rat) 68384 Ccnd1 cyclin D1 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:68556 D RGD:13462063|PMID:17420962 20171208 RGD protein:increased expression:pancreas (human) 68384 Ccnd1 cyclin D1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:68556 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 68384 Ccnd1 cyclin D1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:13434929|PMID:27498289 20171009 RGD protein:increased expression:lung 68384 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:11052612|PMID:26055143 20171004 RGD 68384 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:13434926|PMID:18715616 20171009 RGD mRNA:splice variant 68384 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:13434928|PMID:9462706 20171009 RGD DNA:amplification 68384 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68556 D RGD:13434924|PMID:16406195 20171009 RGD DNA:SNP: :870A>G (human) 68384 Ccnd1 cyclin D1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68556 D RGD:11536846|PMID:26681199 20171009 RGD 68384 Ccnd1 cyclin D1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:68556 D RGD:13434927|PMID:19355812 20171009 RGD 68384 Ccnd1 cyclin D1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68556 D RGD:13792605|PMID:28677753 20180917 RGD mRNA:increased expression:thyroid 68384 Ccnd1 cyclin D1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:68556 D RGD:2296036|PMID:18025280 20080624 RGD 68384 Ccnd1 cyclin D1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:68556 D RGD:13462053|PMID:25053516 20171208 RGD protein:increased expression:pancreas (human) 68384 Ccnd1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:2289127|PMID:17924468 20080123 RGD 68384 Ccnd1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:2289130|PMID:15538282 20080123 RGD DNA:polymorphism 68384 Ccnd1 cyclin D1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:68556 D RGD:13434930|PMID:14674039 20171009 RGD protein:increased expression:lung 68384 Ccnd1 cyclin D1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68556 D RGD:13673912|PMID:29739297 20180705 RGD DNA:snp:exon:c.870G>A (human) 68384 Ccnd1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68556 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:26909611|PMID:29464035 68384 Ccnd1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:13434911|PMID:9796972 20171004 RGD 68384 Ccnd1 cyclin D1 gene DOID:630 genetic disease ISO RGD:68556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68384 Ccnd1 cyclin D1 gene DOID:6827 pancreatic solid pseudopapillary carcinoma severity ISO RGD:68556 D RGD:13462054|PMID:19248223 20171208 RGD protein:increased expression:pancreas (human) 68384 Ccnd1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:19919837|PMID:22649188|PMID:25822088|PMID:26189965 68384 Ccnd1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68557 D RGD:127285675|PMID:28100771 20210627 RGD mRNA:increased expression:liver (mouse) 68384 Ccnd1 cyclin D1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68556 D RGD:14401586|PMID:25851350 20190513 RGD associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A (human) 68384 Ccnd1 cyclin D1 gene DOID:8634 prostate carcinoma in situ ISO RGD:68557 D RGD:2289283|PMID:14968434 20080128 RGD mRNA, protein:decreased expression:prostate gland 68384 Ccnd1 cyclin D1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:68556 D RGD:2293574|PMID:18301453 20080624 RGD protein:increased expression:uterine cervix 68384 Ccnd1 cyclin D1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12235107 68384 Ccnd1 cyclin D1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 68384 Ccnd1 cyclin D1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 68384 Ccnd1 cyclin D1 gene DOID:9000918 Disease Progression ISO RGD:68556 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 68384 Ccnd1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68556 D RGD:13434926|PMID:18715616 20171009 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:splice variant 68384 Ccnd1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:68556 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 68384 Ccnd1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2289139|PMID:17055752 20080124 RGD 68384 Ccnd1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68556 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 68384 Ccnd1 cyclin D1 gene DOID:9001642 Intestinal Polyps ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 68384 Ccnd1 cyclin D1 gene DOID:9002170 Experimental Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 68384 Ccnd1 cyclin D1 gene DOID:9002221 Hyperplasia ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:21541686 68384 Ccnd1 cyclin D1 gene DOID:9002265 Kidney Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 68384 Ccnd1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17606477 68384 Ccnd1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:68557 D RGD:2289283|PMID:14968434 20080128 RGD mRNA, protein:decreased expression:prostate gland 68384 Ccnd1 cyclin D1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283038|PMID:19147571|PMID:21081470|PMID:21188121 68384 Ccnd1 cyclin D1 gene DOID:9002981 Genomic Instability ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8548770 68384 Ccnd1 cyclin D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 68384 Ccnd1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 68384 Ccnd1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms onset ISO RGD:68556 D RGD:2296033|PMID:18355450 20080624 RGD DNA:polymorphism: :870A>G 68384 Ccnd1 cyclin D1 gene DOID:9003694 Cecal Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 68384 Ccnd1 cyclin D1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 68384 Ccnd1 cyclin D1 gene DOID:9004009 Reperfusion Injury IEP D RGD:2289145|PMID:16718823 20080124 RGD 68384 Ccnd1 cyclin D1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68556 D RGD:32716380|PMID:20189883 20200626 RGD mRNA:increased expression:CD19+Bcell: 68384 Ccnd1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:68556 D RGD:13462061|PMID:12882690 20171208 RGD protein:increased expression:pancreas (human) 68384 Ccnd1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:68556 D RGD:13464129|PMID:11751405 20171222 RGD protein:increased expression:pancreas (human) 68384 Ccnd1 cyclin D1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 68384 Ccnd1 cyclin D1 gene DOID:9004643 Urologic Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21040761 68384 Ccnd1 cyclin D1 gene DOID:9005172 Lung Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11307925|PMID:16289808 68384 Ccnd1 cyclin D1 gene DOID:9005207 Nasopharyngeal Neoplasms onset ISO RGD:68556 D RGD:2296033|PMID:18355450 20080624 RGD DNA:polymorphism: :870A>G 68384 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2289336|PMID:12649181 20080129 RGD protein:decreased expression:mammary gland 68384 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2289337|PMID:12602925 20080129 RGD 68384 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2292404|PMID:12376462 20220330 RGD mRNA, protein:increased expression:mammary gland (rat) 68384 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2306898|PMID:16316942 20220324 RGD mRNA:increased expression:mammary gland (rat) 68384 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942 68384 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68557 D RGD:2296037|PMID:17440082 20080624 RGD 68384 Ccnd1 cyclin D1 gene DOID:9007102 Myocardial Ischemia ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 68384 Ccnd1 cyclin D1 gene DOID:9007170 Bowen's Disease ISO RGD:68556 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 68384 Ccnd1 cyclin D1 gene DOID:9007188 Liver Neoplasms ISO RGD:68556 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 68384 Ccnd1 cyclin D1 gene DOID:9007502 Brain Neoplasms ISO RGD:68556 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:20932960|PMID:27935819 68384 Ccnd1 cyclin D1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21726611|PMID:24362009 68384 Ccnd1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:29232554 68384 Ccnd1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:2296034|PMID:18306533 20080624 RGD protein:increased expression:endometrium 68384 Ccnd1 cyclin D1 gene DOID:9007730 Burns IEP D RGD:2289134|PMID:17996899 20080123 RGD 68384 Ccnd1 cyclin D1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 68384 Ccnd1 cyclin D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68556 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 68384 Ccnd1 cyclin D1 gene DOID:9008939 Breast Neoplasms ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12839951|PMID:17255770|PMID:19636701|PMID:20948315|PMID:23839043|PMID:25267515 68384 Ccnd1 cyclin D1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:68556 D RGD:2289131|PMID:15647071 20080123 RGD protein:increased expression:breast 68384 Ccnd1 cyclin D1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:68556 D RGD:2289126|PMID:18194538 20080123 RGD DNA:polymorphism 68384 Ccnd1 cyclin D1 gene DOID:9119 acute myeloid leukemia ISO RGD:68556 D RGD:11352824|PMID:22391157 20160720 RGD mRNA:increased expression:bone marrow (human) 68384 Ccnd1 cyclin D1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:68556 D RGD:11353789|PMID:21928377 20160721 RGD human tumor in a mouse model 68384 Ccnd1 cyclin D1 gene DOID:9256 colorectal cancer ISO RGD:68556 D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 68384 Ccnd1 cyclin D1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 68384 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23502783 68384 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:1581171|PMID:15755896 19990101 RGD 68384 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 68384 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:68556 D RGD:11353784|PMID:23502783 20160721 RGD DNA:snp:exon:c.870G>A (rs603965) (human) 68384 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:68556 D RGD:7240710 20230505 OMIM 68384 Ccnd1 cyclin D1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:68556 D RGD:11352824|PMID:22391157 20160720 RGD mRNA:increased expression:bone marrow (human) 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050952 spastic ataxia ISO RGD:68558 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 ISO RGD:68558 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 5 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 susceptibility ISO RGD:68558 D RGD:7240710 20230505 OMIM 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0110928 nemaline myopathy 2 ISO RGD:68558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 susceptibility ISO RGD:68558 D RGD:7240710 20190904 OMIM 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:68558 D RGD:13515053|PMID:29495422 20180330 RGD DNA:SNPs:introns: 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68558 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:10762541|PMID:17576681|PMID:18755274|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:630 genetic disease ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:734674|PMID:10762541 19990101 RGD 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9004866 Ataxia ISO RGD:68558 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:963 episodic ataxia ISO RGD:68558 D RGD:734674|PMID:10762541 19990101 RGD 68385 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:963 episodic ataxia ISO RGD:68558 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 68386 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:68560 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:15849264|PMID:21931702|PMID:25741868 68386 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:1059 intellectual disability ISO RGD:68560 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 68386 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:1059 intellectual disability ISO RGD:68560 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Intellectual disability 68386 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:630 genetic disease ISO RGD:68560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68387 Slc7a2 solute carrier family 7 member 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:68562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 68387 Slc7a2 solute carrier family 7 member 2 gene DOID:2661 myoepithelioma ISO RGD:68562 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 68387 Slc7a2 solute carrier family 7 member 2 gene DOID:630 genetic disease ISO RGD:68562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68388 Nmu neuromedin U gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:68564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 68388 Nmu neuromedin U gene DOID:630 genetic disease ISO RGD:68564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68388 Nmu neuromedin U gene DOID:9970 obesity IDA D RGD:1642093|PMID:17706946 20070831 RGD 68388 Nmu neuromedin U gene DOID:9970 obesity ISO RGD:68565 D RGD:1642095|PMID:15448684 20070831 RGD 68388 Nmu neuromedin U gene DOID:9970 obesity susceptibility ISO RGD:68564 D RGD:1642094|PMID:16984985 20070831 RGD DNA:polymorphisms:cds:p.R165W,p.A19E 68389 Epha3 Eph receptor A3 gene DOID:0060224 atrial fibrillation ISO RGD:68566 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 68389 Epha3 Eph receptor A3 gene DOID:1793 pancreatic cancer ISO RGD:68566 D RGD:2317720|PMID:14670182 20100419 RGD 68389 Epha3 Eph receptor A3 gene DOID:630 genetic disease ISO RGD:68566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68389 Epha3 Eph receptor A3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2301766|PMID:16083359 20081031 RGD 68389 Epha3 Eph receptor A3 gene DOID:9000972 Fever IEP D RGD:1581943|PMID:15671251 20081031 RGD mRNA, protein:decreased expression:lung, liver 68390 Rpl21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:7240710 20170503 OMIM 68390 Rpl21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis 12 PMID:19751230|PMID:21412954|PMID:25741868 68390 Rpl21 ribosomal protein L21 gene DOID:4535 hypotrichosis ISO RGD:68568 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 68390 Rpl21 ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:68568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68391 Pde7a phosphodiesterase 7A gene DOID:630 genetic disease ISO RGD:68570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:68572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria IEP D RGD:4145274|PMID:7547054 20101027 RGD protein:increased activity:liver (rat) 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9222176 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:630 genetic disease ISO RGD:68572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:4144185|PMID:16181105 20101011 RGD mRNA:increased expression:lung (rat) 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:9000884 Rhabdomyolysis IEP D RGD:4144834|PMID:16846079 20101018 RGD protein:increased activity:liver (rat) 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:9004484 Sepsis IEP D RGD:4144178|PMID:12627002 20101011 RGD mRNA:increased expression:duodenum, jejunum, ileum (rat) 68392 Alas1 5'-aminolevulinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4144808|PMID:6688350 20101015 RGD protein:decreased activity:liver (rat) 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:9536098 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68574 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:4947 cholangiocarcinoma ISO RGD:68574 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:630 genetic disease ISO RGD:68574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68574 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 68393 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68574 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050451 Brugada syndrome ISO RGD:68576 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Brugada syndrome 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:7240710 20131016 OMIM 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:11284128|PMID:17576681|PMID:17581856|PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22402074|PMID:22457051|PMID:22584458|PMID:22840528|PMID:23280837|PMID:23280838|PMID:23400760|PMID:23414114|PMID:23834499|PMID:23838598|PMID:24762397|PMID:25175087|PMID:25214526|PMID:25401298|PMID:25410959|PMID:25741868|PMID:25741869|PMID:26016905|PMID:26220970|PMID:26467025|PMID:26633542|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28362824|PMID:28444220|PMID:28492532|PMID:29053796|PMID:29062094|PMID:29482223|PMID:29527639|PMID:29953624|PMID:30662450|PMID:30776697|PMID:30847666|PMID:31017293|PMID:31130284|PMID:31195250|PMID:31293010|PMID:31695177|PMID:31737537|PMID:32709127|PMID:32818936|PMID:34087979|PMID:34361012|PMID:9536098 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0060224 atrial fibrillation ISO RGD:68576 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:7240710 20170301 OMIM 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22457051|PMID:22840528|PMID:23400760|PMID:23414114|PMID:24762397|PMID:25214526|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28492532|PMID:29053796|PMID:30662450|PMID:30776697|PMID:31017293|PMID:31130284|PMID:31737537|PMID:32709127 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:68576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:68576 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:1826 epilepsy ISO RGD:68576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:630 genetic disease ISO RGD:68576 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22402074|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28341588|PMID:28444220|PMID:28492532|PMID:30847666|PMID:31195250|PMID:31695177 68394 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:9003936 Cardiomegaly ISO RGD:68577 D RGD:8847123|PMID:23747723 20140814 RGD protein:decreased expression:heart: 68395 Hsf2 heat shock transcription factor 2 gene DOID:0060224 atrial fibrillation ISO RGD:68578 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 68395 Hsf2 heat shock transcription factor 2 gene DOID:1826 epilepsy ISO RGD:68578 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 68395 Hsf2 heat shock transcription factor 2 gene DOID:630 genetic disease ISO RGD:68578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:68580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:1059 intellectual disability ISO RGD:68580 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:1626127|PMID:15220217 20070713 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:630 genetic disease ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:7240710 20141015 OMIM 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:17952091|PMID:23273567|PMID:23273569|PMID:25741868|PMID:25997753|PMID:27708270|PMID:28492532|PMID:28869677|PMID:29276006 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:1626127|PMID:15220217 20070713 RGD DNA:SNPs: :rs2276047,snp8(human) 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9007692 Insulin Resistance IMP D RGD:2312440|PMID:17327370 20090817 RGD associated with Metabolic Syndrome X 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9007692 Insulin Resistance IMP D RGD:2312442|PMID:12453826 20090817 RGD 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12086927|PMID:25635986 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:1626127|PMID:15220217 20070713 RGD DNA:SNPs: :rs2276047,snp8(human) 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:633161|PMID:12086927 20090817 RGD DNA:deletion:3' utr (human) 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9970 obesity ISO RGD:68580 D RGD:1626127|PMID:15220217 20070713 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) 68396 Inppl1 inositol polyphosphate phosphatase-like 1 gene DOID:9993 hypoglycemia ISO RGD:68581 D RGD:737755|PMID:11343120 19990101 RGD 68397 Syt4 synaptotagmin 4 gene DOID:1059 intellectual disability ISO RGD:68582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 68397 Syt4 synaptotagmin 4 gene DOID:11832 visual epilepsy IEP D RGD:730127|PMID:8872307 19990101 RGD 68397 Syt4 synaptotagmin 4 gene DOID:1909 melanoma ISO RGD:68582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 68397 Syt4 synaptotagmin 4 gene DOID:630 genetic disease ISO RGD:68582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:68584 D RGD:9693694|PMID:17289873 20150211 RGD DNA:amplification: (human) 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:32860008 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:68584 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1826 epilepsy ISO RGD:68584 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:25420144|PMID:29942082 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1826 epilepsy ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:3347 osteosarcoma ISO RGD:68584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248279 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:4450 renal cell carcinoma ISO RGD:68584 D RGD:9693695|PMID:18777199 20150211 RGD protein:increased expression:kidney (human) 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:630 genetic disease ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27516594|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68584 D RGD:9693723|PMID:17022810 20150212 RGD protein:increased expression:liver (human) 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:7240710 20191113 OMIM 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:20683999|PMID:23020937|PMID:23994350|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27267311|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:68584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25915598 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laband syndrome PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68584 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68584 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25420144 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:7240710 20171011 OMIM 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndrome PMID:18203178|PMID:20683999|PMID:23020937|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008582 Developmental Disease ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68584 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520698 68398 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68584 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68399 Syt8 synaptotagmin 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 68399 Syt8 synaptotagmin 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347431 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 68399 Syt8 synaptotagmin 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1347431 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 68399 Syt8 synaptotagmin 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 68399 Syt8 synaptotagmin 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347431 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 68399 Syt8 synaptotagmin 8 gene DOID:630 genetic disease ISO RGD:1347431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68399 Syt8 synaptotagmin 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347431 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 68400 Cd244 CD244 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 68400 Cd244 CD244 molecule gene DOID:10283 prostate cancer ISO RGD:736436 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 68400 Cd244 CD244 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736436 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68400 Cd244 CD244 molecule gene DOID:630 genetic disease ISO RGD:736436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68400 Cd244 CD244 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736436 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18794858 68400 Cd244 CD244 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736436 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:18794858 68400 Cd244 CD244 molecule gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736436 D RGD:7240710 20190329 OMIM 68400 Cd244 CD244 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736436 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68401 Gzmk granzyme K gene DOID:630 genetic disease ISO RGD:68588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68401 Gzmk granzyme K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68588 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:0060041 autism spectrum disorder ISO RGD:68590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:0060319 cardiac arrest ISO RGD:68590 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Cardiac arrest 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:7240710 20170510 OMIM 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33 PMID:23832105|PMID:25741868|PMID:34008892 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:1059 intellectual disability ISO RGD:68590 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Intellectual disability 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:12377 spinal muscular atrophy susceptibility ISO RGD:68590 D RGD:5687182|PMID:19332697 20120203 RGD DNA:SNP:intron: (rs10260404) (human) 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:12849 autistic disorder ISO RGD:68590 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:68590 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18084291 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:5687188|PMID:18708572 20120203 RGD DNA:SNP:intron:rs10260404 (human) 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:68590 D RGD:5687181|PMID:20137488 20120203 RGD DNA:SNP:intron:rs10260404 (human) 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:68590 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:5419 schizophrenia ISO RGD:68590 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:7240710 20170405 OMIM 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, 2 PMID:19285295|PMID:25741868 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:5687186|PMID:19285295 20120203 RGD 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68590 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:68590 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:68590 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 68402 Dpp6 dipeptidyl peptidase like 6 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:68590 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868 68403 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:630 genetic disease ISO RGD:68592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 68403 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9005672 Maple Syrup Urine Disease, Type 2 ISO RGD:68592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II PMID:14508502|PMID:14517957|PMID:14742428|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:1943690|PMID:19823873|PMID:1990841|PMID:2010537|PMID:20639189|PMID:24772966|PMID:25741868|PMID:26257134|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32812330|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 68403 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68592 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 68403 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:7240710 20130221 OMIM 68403 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 68403 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 68404 Epas1 endothelial PAS domain protein 1 gene DOID:0050855 renal fibrosis ISO RGD:68595 D RGD:11041600|PMID:22299048 20160324 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:0080322 polycystic kidney disease IEP D RGD:10395372|PMID:17322369 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:7240710 20130221 OMIM 68404 Epas1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 4 PMID:18184961|PMID:18378852|PMID:18508787|PMID:18650473|PMID:19208626|PMID:21389259|PMID:22367913|PMID:23716564|PMID:25741868|PMID:27292716|PMID:27651169|PMID:28492532|PMID:29790589 68404 Epas1 endothelial PAS domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:68594 D RGD:1580974|PMID:11159352 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:10780 primary polycythemia ISO RGD:68594 D RGD:8554872 20171017 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 68404 Epas1 endothelial PAS domain protein 1 gene DOID:11650 bronchopulmonary dysplasia treatment IEP D RGD:10395385|PMID:23065129 20150904 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:12450 pancytopenia ISO RGD:68595 D RGD:11041567|PMID:12750163 20160324 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:12716 newborn respiratory distress syndrome ISS RGD:68595 D RGD:13592920 20180518 MouseDO OMIM:267450 68404 Epas1 endothelial PAS domain protein 1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68594 D RGD:11041600|PMID:22299048 20160324 RGD protein:increased expression:kidney: 68404 Epas1 endothelial PAS domain protein 1 gene DOID:14227 azoospermia ISO RGD:68595 D RGD:734934|PMID:14608355 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:3021 acute kidney failure treatment IDA D RGD:10395386|PMID:16762988 20150904 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:3307 teratoma ISO RGD:68594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 68404 Epas1 endothelial PAS domain protein 1 gene DOID:3669 intermittent claudication treatment IDA D RGD:10395378|PMID:21771896 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:3883 Lynch syndrome ISO RGD:68594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 68404 Epas1 endothelial PAS domain protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68594 D RGD:10395382|PMID:21812995 20150904 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:4195 hyperglycemia IEP D RGD:10395377|PMID:17914354 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma IEP D RGD:10395373|PMID:12750296 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 68404 Epas1 endothelial PAS domain protein 1 gene DOID:5679 retinal disease ISO RGD:68595 D RGD:734934|PMID:14608355 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:5844 myocardial infarction IEP D RGD:1580977|PMID:15247145 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:5844 myocardial infarction IEP D RGD:5147886|PMID:18484163 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:68594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68404 Epas1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension IEP D RGD:10395375|PMID:16215633 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68594 D RGD:11041573|PMID:18650473 20160324 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) 68404 Epas1 endothelial PAS domain protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68594 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 68404 Epas1 endothelial PAS domain protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:68594 D RGD:10395366|PMID:12823854 20150903 RGD protein:increased expression:layer of synovial tissue, stromal cell 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:10395365|PMID:20495569 20150903 RGD mRNA:increased expression:cartilage 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:10395366|PMID:12823854 20150903 RGD protein:increased expression:layer of synovial tissue, stromal cell 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68595 D RGD:10395364|PMID:21869830 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68595 D RGD:10395365|PMID:20495569 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia ISO RGD:68594 D RGD:11041573|PMID:18650473 20160324 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia susceptibility ISO RGD:68594 D RGD:11041568|PMID:25792003 20160324 RGD DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human) 68404 Epas1 endothelial PAS domain protein 1 gene DOID:8893 psoriasis ISO RGD:68594 D RGD:10395383|PMID:17495954 20150904 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:68594 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9000998 Brain Injuries treatment IDA D RGD:10395371|PMID:22960363 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:10395374|PMID:17967803 20150903 RGD associated with Diabetes Mellitus, Type 2 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:10395377|PMID:17914354 20150903 RGD associated with Diabetes Mellitus, Experimental 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68594 D RGD:10395368|PMID:20495570 20150903 RGD DNA:SNP:5' utr: (rs17039192) (human) 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis no_association ISO RGD:68594 D RGD:10395367|PMID:22247019 20150903 RGD DNA:SNP:5' utr: (rs17039192) (human) 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:68595 D RGD:734934|PMID:14608355 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68594 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26735578|PMID:30090327 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:68594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23333640 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68595 D RGD:734934|PMID:14608355 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9005600 Infarction IEP D RGD:10395384|PMID:12911537 20150904 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9005725 Iron Overload treatment ISO RGD:68595 D RGD:11041571|PMID:24282296 20160324 RGD associated with Beta-Thalassemia; 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:10395381|PMID:23603807 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9007461 Chronic Lung Allograft Dysfunction IEP D RGD:10395369|PMID:22305384 20150903 RGD mRNA:increased expression:lung 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68594 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:23333640|PMID:26735578|PMID:30090327 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9007702 Carcinogenesis ISO RGD:68594 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:10395377|PMID:17914354 20150903 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9452 fatty liver disease ISO RGD:68595 D RGD:734934|PMID:14608355 19990101 RGD 68404 Epas1 endothelial PAS domain protein 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:68595 D RGD:11041569|PMID:24218148 20160324 RGD 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:10283 prostate cancer ISO RGD:1605737 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:10485 esophageal atresia ISO RGD:1605737 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:12849 autistic disorder ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:630 genetic disease ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9001426 Developmental and Epileptic Encephalopathy 104 ISO RGD:1605737 D RGD:7240710 20220810 OMIM 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9001426 Developmental and Epileptic Encephalopathy 104 ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 104 PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:7240710 20221214 OMIM 68405 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy PMID:15742102|PMID:33833240|PMID:34909687 68406 Timm22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:7240710 20200429 OMIM 68406 Timm22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 PMID:22638997|PMID:25741868|PMID:30452684 68406 Timm22 translocase of inner mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1345582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68407 Lrp2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:7240710 20130221 OMIM 68407 Lrp2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:12923867|PMID:16199547|PMID:17576681|PMID:17632512|PMID:18414213|PMID:20301732|PMID:20359920|PMID:23033978|PMID:24319098|PMID:24406863|PMID:24876117|PMID:25158045|PMID:25326635|PMID:25682901|PMID:25741868|PMID:26118977|PMID:26350204|PMID:26529358|PMID:28492532|PMID:29992659|PMID:30167849|PMID:32238909|PMID:33103447|PMID:34979047|PMID:8266995|PMID:9475100|PMID:9536098 68407 Lrp2 LDL receptor related protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 68407 Lrp2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25107291|PMID:25741868|PMID:26529358|PMID:28492532|PMID:30167849 68407 Lrp2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25741868|PMID:26350204|PMID:26529358|PMID:28492532|PMID:30167849 68407 Lrp2 LDL receptor related protein 2 gene DOID:1062 Fanconi syndrome ISS RGD:68600 D RGD:13592920 20180518 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 68407 Lrp2 LDL receptor related protein 2 gene DOID:10763 hypertension IDA D RGD:1641827|PMID:10919857 20070823 RGD protein:altered localization:apical plasma membrane 68407 Lrp2 LDL receptor related protein 2 gene DOID:10976 membranous glomerulonephritis IEP D RGD:1641827|PMID:10919857 20070823 RGD mRNA:decreased expression:glomerulus 68407 Lrp2 LDL receptor related protein 2 gene DOID:11193 syndactyly ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868|PMID:28492532 68407 Lrp2 LDL receptor related protein 2 gene DOID:11829 degenerative myopia ISS RGD:68600 D RGD:13592920 20181011 MouseDO 68407 Lrp2 LDL receptor related protein 2 gene DOID:1793 pancreatic cancer ISO RGD:68599 D RGD:5490966|PMID:18772397 20110926 RGD 68407 Lrp2 LDL receptor related protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 68407 Lrp2 LDL receptor related protein 2 gene DOID:2527 nephrosis IEP D RGD:1641827|PMID:10919857 20070823 RGD mRNA:decreased expression:glomerulus 68407 Lrp2 LDL receptor related protein 2 gene DOID:3021 acute kidney failure ISO RGD:68599 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 68407 Lrp2 LDL receptor related protein 2 gene DOID:5394 prolactinoma ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolactinoma, familial PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 68407 Lrp2 LDL receptor related protein 2 gene DOID:557 kidney disease ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 68407 Lrp2 LDL receptor related protein 2 gene DOID:630 genetic disease ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17632512|PMID:20359920|PMID:24406863|PMID:25158045|PMID:25682901|PMID:25741868|PMID:26350204|PMID:28492532|PMID:29992659|PMID:34979047|PMID:9536098 68407 Lrp2 LDL receptor related protein 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:68599 D RGD:1641847|PMID:10404822 20070823 RGD 68407 Lrp2 LDL receptor related protein 2 gene DOID:783 end stage renal disease IEP D RGD:1641836|PMID:15266031 20070823 RGD mRNA:decreased expression:kidney 68407 Lrp2 LDL receptor related protein 2 gene DOID:8501 fundus dystrophy ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 68407 Lrp2 LDL receptor related protein 2 gene DOID:898 autosomal dominant polycystic kidney disease IEP D RGD:1641842|PMID:11841627 20070823 RGD 68407 Lrp2 LDL receptor related protein 2 gene DOID:9001542 Albuminuria IDA D RGD:1641839|PMID:12121845 20070823 RGD 68407 Lrp2 LDL receptor related protein 2 gene DOID:9002189 High Myopia ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 68407 Lrp2 LDL receptor related protein 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 68407 Lrp2 LDL receptor related protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 68407 Lrp2 LDL receptor related protein 2 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 68407 Lrp2 LDL receptor related protein 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68599 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DSD incomplete virilization PMID:20359920|PMID:25741868|PMID:28492532|PMID:34979047 68407 Lrp2 LDL receptor related protein 2 gene DOID:9004538 Hearing Loss ISO RGD:68599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 68407 Lrp2 LDL receptor related protein 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1641843|PMID:11685557 20070823 RGD protein:decreased expression:kidney, proximal convoluted tubule, apical plasma membrane 68407 Lrp2 LDL receptor related protein 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 68407 Lrp2 LDL receptor related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 68407 Lrp2 LDL receptor related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68599 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 68407 Lrp2 LDL receptor related protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 68407 Lrp2 LDL receptor related protein 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:68599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 68408 Lasp1 LIM and SH3 protein 1 gene DOID:12849 autistic disorder ISO RGD:68601 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 68408 Lasp1 LIM and SH3 protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68601 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 68408 Lasp1 LIM and SH3 protein 1 gene DOID:630 genetic disease ISO RGD:68601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68408 Lasp1 LIM and SH3 protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68601 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28232485 68409 Aldh9a1 aldehyde dehydrogenase 9 family, member A1 gene DOID:0080600 COVID-19 ISO RGD:68603 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 68409 Aldh9a1 aldehyde dehydrogenase 9 family, member A1 gene DOID:10283 prostate cancer ISO RGD:68603 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 68409 Aldh9a1 aldehyde dehydrogenase 9 family, member A1 gene DOID:1540 parathyroid carcinoma ISO RGD:68603 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68409 Aldh9a1 aldehyde dehydrogenase 9 family, member A1 gene DOID:630 genetic disease ISO RGD:68603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68409 Aldh9a1 aldehyde dehydrogenase 9 family, member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68603 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 68409 Aldh9a1 aldehyde dehydrogenase 9 family, member A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68603 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68410 Pdgfc platelet derived growth factor C gene DOID:0080600 COVID-19 ISO RGD:68605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 68410 Pdgfc platelet derived growth factor C gene DOID:630 genetic disease ISO RGD:68605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68410 Pdgfc platelet derived growth factor C gene DOID:9003566 Mesothelioma ISO RGD:68605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:68607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:7240710 20130731 OMIM 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:68607 D RGD:153297781|PMID:31706103 20220726 RGD protein:decreased expression:colorectum (human) 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:25741868 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:10763 hypertension IMP D RGD:13442483|PMID:25776069 20171103 RGD 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:12306 vitiligo ISO RGD:68607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:7240710 20130731 OMIM 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:15705783|PMID:20404132|PMID:23812944|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31298594 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:2228 thrombocytosis ISO RGD:68607 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:3393 coronary artery disease ISO RGD:68607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:7240710 20130731 OMIM 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:5844 myocardial infarction ISO RGD:68607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:630 genetic disease ISO RGD:68607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:687 hepatoblastoma ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:8432 polycythemia ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:8552 chronic myeloid leukemia ISS RGD:68608 D RGD:13592920 20180518 MouseDO OMIM:608232 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9001542 Albuminuria IMP D RGD:13442483|PMID:25776069 20171103 RGD 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9005372 Inflammation ISO RGD:68607 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21496118 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9006561 Familial Myelofibrosis ISO RGD:68607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial myelofibrosis PMID:25741868 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23908464|PMID:25741868|PMID:26457647|PMID:31102422|PMID:31173385 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9007096 Stroke ISO RGD:68607 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:12904914|PMID:25628389 20170526 RGD 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:68607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68607 D RGD:11041896|PMID:26553438 20220726 RGD DNA:missense mutation:CDS:p.W263R (rs3184504) (human) 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9538 multiple myeloma ISO RGD:68607 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:68607 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224649 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:153297780|PMID:21829393 20220726 RGD DNA:missense mutation:exon: (rs3184504) (human) 68411 Sh2b3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:6484692|PMID:21873553 20220726 RGD DNA:SNP: : (rs3184504) (human) 68412 Stk3 serine/threonine kinase 3 gene DOID:0111590 Cohen syndrome ISO RGD:732933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 68412 Stk3 serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:732933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68413 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348054 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 68413 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 68413 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 68413 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:7240710 20140911 OMIM 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke PMID:16199547|PMID:18414213|PMID:23252400|PMID:25741868|PMID:28492532|PMID:30089820|PMID:31584066 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603708 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:7240710 20130731 OMIM 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 PMID:17120046|PMID:18414213|PMID:21907012|PMID:25741868|PMID:28492532|PMID:31584066|PMID:32666583 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603708 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:32666583 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:2383 neonatal jaundice ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal jaundice PMID:25741868|PMID:32666583 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603708 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1603708 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:28492532 68414 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9007114 Mobility Limitation ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:32666583 68415 Ppp5c protein phosphatase 5, catalytic subunit gene DOID:630 genetic disease ISO RGD:68614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68415 Ppp5c protein phosphatase 5, catalytic subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68615 D RGD:8693745|PMID:20875921 20140722 RGD 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0080074 neural tube defect ISO RGD:68616 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:13938 amenorrhea ISO RGD:68616 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:14566 disease of cellular proliferation ISO RGD:68616 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21455586 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:1520 colon carcinoma ISO RGD:68616 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10649492 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:630 genetic disease ISO RGD:68616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9000217 Stomach Neoplasms ISO RGD:68616 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:26401016 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9002762 Ovarian Neoplasms ISO RGD:68616 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15674352 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:68616 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:7240710 20200226 OMIM 68416 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 68417 Ncs1 neuronal calcium sensor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:68618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 68417 Ncs1 neuronal calcium sensor 1 gene DOID:630 genetic disease ISO RGD:68618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68418 Dio2 iodothyronine deiodinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 68418 Dio2 iodothyronine deiodinase 2 gene DOID:10763 hypertension susceptibility ISO RGD:735779 D RGD:1626437|PMID:17224473 20070807 RGD 68418 Dio2 iodothyronine deiodinase 2 gene DOID:289 endometriosis ISO RGD:735779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 68418 Dio2 iodothyronine deiodinase 2 gene DOID:50 thyroid gland disease ISO RGD:735779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 68418 Dio2 iodothyronine deiodinase 2 gene DOID:630 genetic disease ISO RGD:735779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68418 Dio2 iodothyronine deiodinase 2 gene DOID:9003566 Mesothelioma ISO RGD:735779 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11425850 68418 Dio2 iodothyronine deiodinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735779 D RGD:2313696|PMID:18198294 20091009 RGD DNA:polymorphism: :p.T92A (human) 68418 Dio2 iodothyronine deiodinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:735779 D RGD:2313698|PMID:11872697 20091009 RGD DNA:SNP: :rs225014, p.T92A (human) 68418 Dio2 iodothyronine deiodinase 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735779 D RGD:1626439|PMID:17077128 20070807 RGD DNA:SNP: :rs225014, p.T92A (human) 68418 Dio2 iodothyronine deiodinase 2 gene DOID:9970 obesity no_association ISO RGD:735779 D RGD:1626439|PMID:17077128 20070807 RGD 68419 Pfkm phosphofructokinase, muscle gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:68621 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b PMID:9792857 68419 Pfkm phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2140573|PMID:8444874 68419 Pfkm phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:1599108|PMID:1533013 20070116 RGD 68419 Pfkm phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:7240710 20130221 OMIM 68419 Pfkm phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VII PMID:14339001|PMID:16199547|PMID:17576681|PMID:1833270|PMID:2140573|PMID:22364848|PMID:22995305|PMID:24011984|PMID:24033266|PMID:25741868|PMID:27066546|PMID:28492532|PMID:28779239|PMID:7479776|PMID:7513946|PMID:7603526|PMID:7825568|PMID:8037209|PMID:8444874|PMID:8659544|PMID:8880699|PMID:8889589|PMID:9389749|PMID:9443500|PMID:9536098 68419 Pfkm phosphofructokinase, muscle gene DOID:2747 glycogen storage disease ISO RGD:68621 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:24033266|PMID:28492532|PMID:7825568|PMID:8037209|PMID:8880699|PMID:9389749 68419 Pfkm phosphofructokinase, muscle gene DOID:630 genetic disease ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 68419 Pfkm phosphofructokinase, muscle gene DOID:9000884 Rhabdomyolysis ISO RGD:68621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:8037209|PMID:8444874|PMID:8880699|PMID:9389749 68419 Pfkm phosphofructokinase, muscle gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 68419 Pfkm phosphofructokinase, muscle gene DOID:9007102 Myocardial Ischemia ISO RGD:68621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 68420 Dio3 iodothyronine deiodinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68623 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 68420 Dio3 iodothyronine deiodinase 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68623 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 68420 Dio3 iodothyronine deiodinase 3 gene DOID:6000 congestive heart failure IEP D RGD:2303417|PMID:18259611 20090212 RGD associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle 68420 Dio3 iodothyronine deiodinase 3 gene DOID:630 genetic disease ISO RGD:68623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68420 Dio3 iodothyronine deiodinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68623 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:26825960 68420 Dio3 iodothyronine deiodinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:68623 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 68422 Cldn1 claudin 1 gene DOID:0080547 non-alcoholic steatohepatitis IEP D RGD:26884351|PMID:31189495 20200508 RGD mRNA:increased expression:distal colon (rat) 68422 Cldn1 claudin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:68626 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 68422 Cldn1 claudin 1 gene DOID:2773 contact dermatitis ISO RGD:68626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23136956 68422 Cldn1 claudin 1 gene DOID:289 endometriosis ISO RGD:68626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 68422 Cldn1 claudin 1 gene DOID:3310 atopic dermatitis ISO RGD:68626 D RGD:11344875|PMID:21163515 20160707 RGD mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) 68422 Cldn1 claudin 1 gene DOID:5082 liver cirrhosis severity IEP D RGD:26884347|PMID:21620107 20200508 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) 68422 Cldn1 claudin 1 gene DOID:5419 schizophrenia ISO RGD:68626 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68422 Cldn1 claudin 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68626 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 68422 Cldn1 claudin 1 gene DOID:630 genetic disease ISO RGD:68626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68422 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:26884352|PMID:24696415 20200508 RGD associated with liver cirrhosis;protein:increased expression:liver (human) 68422 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:26884345|PMID:24815833 20200508 RGD protein:increased expression:liver (human) 68422 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity IEP D RGD:26884348|PMID:17270214 20200508 RGD protein:decreased expression:liver (human) 68422 Cldn1 claudin 1 gene DOID:687 hepatoblastoma severity IEP D RGD:26884349|PMID:16647953 20200508 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) 68422 Cldn1 claudin 1 gene DOID:824 periodontitis IEP D RGD:11344891|PMID:22092031 20160707 RGD mRNA,protein:decreased expression:epithelium: 68422 Cldn1 claudin 1 gene DOID:8778 Crohn's disease ISO RGD:68626 D RGD:11341809|PMID:21748286 20160706 RGD 68422 Cldn1 claudin 1 gene DOID:8947 diabetic retinopathy treatment IEP D RGD:11341734|PMID:25685822 20160705 RGD 68422 Cldn1 claudin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:68626 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 68422 Cldn1 claudin 1 gene DOID:9001620 Leukoaraiosis ISO RGD:68626 D RGD:11344876|PMID:25956626 20160707 RGD DNA:SNPs: :rs17501010, rs893051,rs9290927(human) 68422 Cldn1 claudin 1 gene DOID:9004017 Chronic Hepatitis C IEP D RGD:26884350|PMID:21412800 20200508 RGD mRNA:decreased expression:liver (human) 68422 Cldn1 claudin 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:68626 D RGD:25330352|PMID:19674288 20200408 RGD associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations 68422 Cldn1 claudin 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:68626 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 68422 Cldn1 claudin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 68422 Cldn1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:11341732|PMID:15521008 20160705 RGD DNA:deletion, nonsense mutation:exon:200_201delTT(human) 68422 Cldn1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:7240710 20130221 OMIM 68422 Cldn1 claudin 1 gene DOID:9007711 Nisch syndrome ISO RGD:68626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 68422 Cldn1 claudin 1 gene DOID:9007730 Burns IEP D RGD:8655996|PMID:22001439 20160706 RGD associated with Binge Drinking;protein: decreased tyrosine phosphorylation:intestine mucosa" 68422 Cldn1 claudin 1 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:2325127|PMID:19929946 20160705 RGD protein:decreased expression:colon: 68422 Cldn1 claudin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579870|PMID:24014025 68422 Cldn1 claudin 1 gene DOID:9778 irritable bowel syndrome ISO RGD:68626 D RGD:11344877|PMID:25277410 20160707 RGD protein:decreased expression:intestine: 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISS RGD:68629 D RGD:13592920 20180518 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68628 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:7240710 20140911 OMIM 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLG3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 PMID:15185169|PMID:23020937|PMID:24721225|PMID:25741868|PMID:28554332 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:1059 intellectual disability ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31690835 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:12849 autistic disorder ISO RGD:68628 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:1826 epilepsy ISO RGD:68628 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:630 genetic disease ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532|PMID:28554332 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15185169 68423 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:1300392|PMID:15185169 19990101 RGD DNA:mutations:multiple (human) 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:68630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20952458 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:68630 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:16199547|PMID:23169530|PMID:23480858|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9973285 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:68630 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:68630 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68630 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:68630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 PMID:25741868 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:1059 intellectual disability ISO RGD:68630 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability PMID:25741868 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:68630 D RGD:13792688|PMID:24156266 20180920 RGD 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:68630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:12177 common variable immunodeficiency ISO RGD:68630 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:13432154|PMID:25568121 20170921 RGD protein:decreased expression:cerebral cortex, synapse 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:13432155|PMID:24728190 20170921 RGD protein:decreased expression:prefrontal cortex 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:14330 Parkinson's disease IEP D RGD:2306834|PMID:15703272 20090507 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68630 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20952458 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:68630 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5147998|PMID:11226670 20120322 RGD protein:decreased expression:forebrain, postsynaptic density 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:630 genetic disease ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30504930|PMID:33597769 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:68630 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:32581362 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9002211 Hyperalgesia IDA D RGD:7257680|PMID:20531396 20130829 RGD associated with Diabetic neuropathies; 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:7240710 20200318 OMIM 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:16199547|PMID:25741868|PMID:26350515|PMID:27479843|PMID:27618451|PMID:28492532|PMID:29460436|PMID:33597769 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68630 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:68630 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25741868|PMID:26350515|PMID:27479843|PMID:33597769 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:68630 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:29460436|PMID:33597769 68424 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9008104 Cancer Pain ameliorates IMP D RGD:243048441|PMID:26738857 20230331 RGD 68425 Cldn3 claudin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68632 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 68425 Cldn3 claudin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68632 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 68425 Cldn3 claudin 3 gene DOID:10923 sickle cell anemia ISO RGD:68632 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 68425 Cldn3 claudin 3 gene DOID:12849 autistic disorder ISO RGD:68632 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68425 Cldn3 claudin 3 gene DOID:13976 peptic esophagitis IEP D RGD:11344880|PMID:21373849 20160707 RGD protein:altered expression:epithelial cell, esophagus: 68425 Cldn3 claudin 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 68425 Cldn3 claudin 3 gene DOID:1929 supravalvular aortic stenosis ISO RGD:68632 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 68425 Cldn3 claudin 3 gene DOID:4481 allergic rhinitis ISO RGD:68632 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 68425 Cldn3 claudin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68632 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 68425 Cldn3 claudin 3 gene DOID:5419 schizophrenia ISO RGD:68632 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68425 Cldn3 claudin 3 gene DOID:630 genetic disease ISO RGD:68632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68425 Cldn3 claudin 3 gene DOID:8445 intestinal volvulus ISO RGD:68632 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 68425 Cldn3 claudin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:68632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 68425 Cldn3 claudin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68632 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 68425 Cldn3 claudin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68632 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68425 Cldn3 claudin 3 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:2325127|PMID:19929946 20160705 RGD protein:decreased expression:colon: 68425 Cldn3 claudin 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:68632 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 68426 Stx5 syntaxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 68426 Stx5 syntaxin 5 gene DOID:1059 intellectual disability ISO RGD:68634 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68426 Stx5 syntaxin 5 gene DOID:630 genetic disease ISO RGD:68634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68427 Tns1 tensin 1 gene DOID:630 genetic disease ISO RGD:68636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68427 Tns1 tensin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68636 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:11054 urinary bladder cancer ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:12387 nephrogenic diabetes insipidus ISS RGD:68639 D RGD:13592920 20180518 MouseDO OMIM:125800 | OMIM:304800 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:1459 hypothyroidism IEP D RGD:704374|PMID:12595491 19990101 RGD 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:1749 squamous cell carcinoma ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:2316 brain ischemia IEP D RGD:5490152|PMID:19616516 20110906 RGD 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:630 genetic disease ISO RGD:68638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9000081 Lymphatic Metastasis ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9000117 Esophageal Neoplasms ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18214481 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9004464 Skin Neoplasms ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9005873 Tongue Neoplasms ISO RGD:68638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9562 primary ciliary dyskinesia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 68428 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9870 galactosemia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:0060870 isolated growth hormone deficiency ISO RGD:68640 D RGD:12910859|PMID:11248743 20170627 RGD protein:decreased expression:serum 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:68640 D RGD:12910858|PMID:19207313 20170627 RGD 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:1184 nephrotic syndrome ISO RGD:68640 D RGD:12910863|PMID:11248742 20170627 RGD 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:1826 epilepsy ISO RGD:68640 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68640 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:3490 Noonan syndrome ISO RGD:68640 D RGD:11063837|PMID:16263833 20170627 RGD 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:630 genetic disease ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:684 hepatocellular carcinoma ISO RGD:68640 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:8689 anorexia nervosa ISO RGD:68640 D RGD:12910859|PMID:11248743 20170627 RGD protein:decreased expression:serum 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9000528 Coronary Disease ISO RGD:68640 D RGD:1626121|PMID:15521962 20070712 RGD 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9001239 Delayed Puberty ISO RGD:68640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68640 D RGD:12910854|PMID:21636299 20170627 RGD protein:decreased expression:serum 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9005930 Endotoxemia IEP D RGD:625688|PMID:12217886 20170627 RGD 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9006257 Growth Disorders ISO RGD:68640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:68640 D RGD:12910853|PMID:23488611 20170627 RGD DNA:missense mutation:exon:p.L127P (c.380T>C) (human) 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9007692 Insulin Resistance ISO RGD:68640 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17726072 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9007730 Burns IEP D RGD:12910869|PMID:10827012 20170627 RGD mRNA:decreased expression:liver 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:7240710 20170215 OMIM 68429 Igfals insulin-like growth factor binding protein, acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature due to primary acid-labile subunit deficiency PMID:14762184|PMID:17726072|PMID:18303074|PMID:20591980|PMID:22678306|PMID:22991227|PMID:23488611|PMID:24335034|PMID:25741868|PMID:26418010|PMID:27018247|PMID:28492532 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1606336 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:1059 intellectual disability ISO RGD:1606336 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Intellectual disability 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:11088 asphyxia neonatorum IEP D RGD:9999183|PMID:15453273 20150410 RGD protein:increased expression:hippocampus: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1606336 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17353921 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:2048 autoimmune hepatitis IDA D RGD:9999172|PMID:20208391 20150409 RGD 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1606336 D RGD:9999172|PMID:20208391 20150409 RGD 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:2055 post-traumatic stress disorder IEP D RGD:13782181|PMID:25331812 20180827 RGD 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:2717 Bloom syndrome ISO RGD:1606336 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:5082 liver cirrhosis IEP D RGD:9999176|PMID:24562544 20150409 RGD protein:decreased expression:liver: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1606336 D RGD:9999176|PMID:24562544 20150409 RGD protein:decreased expression:liver: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:5434 scrapie ISO RGD:1553192 D RGD:9999196|PMID:15772339 20150413 RGD protein:increased expression:brain: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:630 genetic disease ISO RGD:1606336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:6432 pulmonary hypertension IEP D RGD:9999167|PMID:23315792 20150408 RGD protein:increased expression:lung: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1606336 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1624250|PMID:12872233 20150410 RGD 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9007993 Dehydration IEP D RGD:1642352|PMID:17412804 20150414 RGD protein:increased expression:brain: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9256 colorectal cancer ISO RGD:1606336 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9778 irritable bowel syndrome IEP D RGD:9999158|PMID:20367971 20150408 RGD protein:increased expression:colonic mucosa: 68430 Pdia3 protein disulfide isomerase family A, member 3 gene DOID:9778 irritable bowel syndrome severity IMP D RGD:13838729|PMID:26221224 20190719 RGD 68431 Cldn5 claudin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:68644 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 68431 Cldn5 claudin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 68431 Cldn5 claudin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 68431 Cldn5 claudin 5 gene DOID:0060496 respiratory allergy ISO RGD:68644 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 68431 Cldn5 claudin 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:68644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 68431 Cldn5 claudin 5 gene DOID:1059 intellectual disability ISO RGD:68644 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 68431 Cldn5 claudin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 68431 Cldn5 claudin 5 gene DOID:11372 megacolon ISO RGD:68644 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 68431 Cldn5 claudin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 68431 Cldn5 claudin 5 gene DOID:12849 autistic disorder ISO RGD:68644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 68431 Cldn5 claudin 5 gene DOID:1790 malignant mesothelioma ISO RGD:68644 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 68431 Cldn5 claudin 5 gene DOID:1826 epilepsy ISO RGD:68644 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 68431 Cldn5 claudin 5 gene DOID:3525 middle cerebral artery infarction treatment IEP D RGD:13204729|PMID:24842554 20170724 RGD 68431 Cldn5 claudin 5 gene DOID:5419 schizophrenia ISO RGD:68644 D RGD:1358511|PMID:15363474 19990101 RGD 68431 Cldn5 claudin 5 gene DOID:5419 schizophrenia ISO RGD:68644 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68431 Cldn5 claudin 5 gene DOID:612 primary immunodeficiency disease ISO RGD:68644 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 68431 Cldn5 claudin 5 gene DOID:630 genetic disease ISO RGD:68644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68431 Cldn5 claudin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68644 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68431 Cldn5 claudin 5 gene DOID:9007661 Dwarfism ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 68431 Cldn5 claudin 5 gene DOID:9007755 Intestinal Reperfusion Injury IEP D RGD:2325127|PMID:19929946 20160705 RGD protein:decreased expression:colon: 68431 Cldn5 claudin 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:68644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 68432 Cldn7 claudin 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 68432 Cldn7 claudin 7 gene DOID:0080600 COVID-19 ISO RGD:68646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 68432 Cldn7 claudin 7 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 68432 Cldn7 claudin 7 gene DOID:1059 intellectual disability ISO RGD:68646 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 68432 Cldn7 claudin 7 gene DOID:12177 common variable immunodeficiency ISO RGD:68646 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 68432 Cldn7 claudin 7 gene DOID:2729 dyskeratosis congenita ISO RGD:68646 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 68432 Cldn7 claudin 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 68432 Cldn7 claudin 7 gene DOID:4001 ovarian carcinoma ISO RGD:68646 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:21134740 68432 Cldn7 claudin 7 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:68646 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 68432 Cldn7 claudin 7 gene DOID:4481 allergic rhinitis ISO RGD:68646 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 68432 Cldn7 claudin 7 gene DOID:630 genetic disease ISO RGD:68646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68432 Cldn7 claudin 7 gene DOID:9000965 Neoplasm Metastasis IMP D RGD:9685143|PMID:23390083 20141217 RGD 68432 Cldn7 claudin 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 68433 Aqp9 aquaporin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:735505 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 68433 Aqp9 aquaporin 9 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23563754 68433 Aqp9 aquaporin 9 gene DOID:1240 leukemia ISO RGD:735505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15336539 68433 Aqp9 aquaporin 9 gene DOID:2717 Bloom syndrome ISO RGD:735505 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68433 Aqp9 aquaporin 9 gene DOID:630 genetic disease ISO RGD:735505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68433 Aqp9 aquaporin 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 68433 Aqp9 aquaporin 9 gene DOID:9005968 Neuralgia ameliorates IMP D RGD:152995474|PMID:31746418 20220623 RGD 68433 Aqp9 aquaporin 9 gene DOID:9006854 MPTP Poisoning ISO RGD:735505 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:29566083 68433 Aqp9 aquaporin 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:735505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19805235 68433 Aqp9 aquaporin 9 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:2326035|PMID:20216911 20110901 RGD 68433 Aqp9 aquaporin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:735505 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16968895 68433 Aqp9 aquaporin 9 gene DOID:9256 colorectal cancer ISO RGD:735505 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 68434 Pde10a phosphodiesterase 10A gene DOID:0081292 traumatic brain injury IEP D RGD:13513923|PMID:29215295 20180312 RGD 68434 Pde10a phosphodiesterase 10A gene DOID:630 genetic disease ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68434 Pde10a phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:7240710 20190315 OMIM 68434 Pde10a phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset PMID:25741868|PMID:27058446|PMID:28492532|PMID:29159890|PMID:32581362 68434 Pde10a phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:7240710 20190315 OMIM 68434 Pde10a phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2 PMID:25741868|PMID:27058447|PMID:28492532|PMID:29159890|PMID:29165877 68434 Pde10a phosphodiesterase 10A gene DOID:9005603 Muscle Hypotonia ISO RGD:68649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:27058446|PMID:32581362 68434 Pde10a phosphodiesterase 10A gene DOID:9008086 Developmental Disabilities ISO RGD:68649 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27058446|PMID:32581362 68435 Clcnka chloride voltage-gated channel Ka gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:68651 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 68435 Clcnka chloride voltage-gated channel Ka gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68651 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 68435 Clcnka chloride voltage-gated channel Ka gene DOID:0110144 Bartter disease type 3 ISO RGD:68651 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:25741868 68435 Clcnka chloride voltage-gated channel Ka gene DOID:0110146 Bartter disease type 4b ISO RGD:68651 D RGD:7240710 20150225 OMIM 68435 Clcnka chloride voltage-gated channel Ka gene DOID:0110146 Bartter disease type 4b ISO RGD:68651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartter disease type 4B PMID:15044642|PMID:18310267|PMID:25741868|PMID:26467025|PMID:28492532 68435 Clcnka chloride voltage-gated channel Ka gene DOID:10003 sensorineural hearing loss ISO RGD:68651 D RGD:1300378|PMID:15044642 20070322 RGD Bartter syndrome type 4, OMIM:602522, C80W 68435 Clcnka chloride voltage-gated channel Ka gene DOID:10003 sensorineural hearing loss ISO RGD:68651 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 68435 Clcnka chloride voltage-gated channel Ka gene DOID:10763 hypertension ISO RGD:68651 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18480177 68435 Clcnka chloride voltage-gated channel Ka gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68652 D RGD:1300296|PMID:9916798 19990101 RGD 68435 Clcnka chloride voltage-gated channel Ka gene DOID:12387 nephrogenic diabetes insipidus ISS RGD:68652 D RGD:13592920 20180518 MouseDO OMIM:125800 | OMIM:304800 68435 Clcnka chloride voltage-gated channel Ka gene DOID:630 genetic disease ISO RGD:68651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68435 Clcnka chloride voltage-gated channel Ka gene DOID:9008681 Deafness ISO RGD:68651 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0060903 thrombosis ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24213632 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:1070 primary open angle glaucoma ISS RGD:68654 D RGD:13592920 20180518 MouseDO OMIM:137760 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:10763 hypertension ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18339647 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:3393 coronary artery disease ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:68653 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:630 genetic disease ISO RGD:68653 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:68653 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25373139 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005580 Moyamoya Disease 1 ISO RGD:68653 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: MYMY1 PMID:26777256 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:7240710 20150708 OMIM 68436 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia PMID:24581742|PMID:25741868|PMID:26777256|PMID:28492532 68437 Dclk1 doublecortin-like kinase 1 gene DOID:630 genetic disease ISO RGD:68655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68437 Dclk1 doublecortin-like kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68655 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23202126 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:68657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:11446 sciatic neuropathy IEP D RGD:9835022|PMID:15862535 20150316 RGD mRNA:increased expression:brain: 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:1574 alcohol use disorder IMP D RGD:9835016|PMID:11814626 20150313 RGD 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:2560 morphine dependence ISO RGD:68657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:630 genetic disease ISO RGD:68657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68657 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16995444 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9000831 Hypokinesia ISO RGD:68657 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20950413 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9001109 Anorexia treatment IDA D RGD:9835031|PMID:11981590 20150316 RGD 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9001600 Wounds and Injuries IEP D RGD:9835019|PMID:11931711 20150313 RGD protein:decreased expression:hypothalamus: 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9002211 Hyperalgesia IEP D RGD:9835017|PMID:12106803 20150313 RGD associated with Sciatic Neuropathy;mRNA:increased expression:spinal cord lumbar segment,dorsal root ganglion: 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9002916 Hyperphagia IMP D RGD:9831410|PMID:9808678 20150305 RGD 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9002916 Hyperphagia IMP D RGD:9835033|PMID:9669488 20150316 RGD 68438 Oprl1 opioid related nociceptin receptor 1 gene DOID:9006302 Binge Drinking ISO RGD:68657 D RGD:14348965|PMID:29197086 20190204 RGD 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:68659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:0080600 COVID-19 ISO RGD:68659 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:3068 glioblastoma ISO RGD:68659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:3312 bipolar disorder ISO RGD:68659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:630 genetic disease ISO RGD:68659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68659 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68439 Bhlhe40 basic helix-loop-helix family, member e40 gene DOID:9007102 Myocardial Ischemia ISO RGD:68659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 68440 Rps19 ribosomal protein S19 gene DOID:0081137 agammaglobulinemia 3 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:28492532 68440 Rps19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:7240710 20211006 OMIM 68440 Rps19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:18768533|PMID:20378560|PMID:20395159|PMID:20606162|PMID:20960466|PMID:23812780|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25741868|PMID:27329125|PMID:28102861|PMID:28376382|PMID:28492532|PMID:31574871|PMID:33718801|PMID:9988267 68440 Rps19 ribosomal protein S19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:68661 D RGD:11554173 20211005 CTD CTD Direct Evidence: marker/mechanism 68440 Rps19 ribosomal protein S19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:68661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15059149|PMID:15075082|PMID:15384984|PMID:15523650|PMID:16159874|PMID:16199547|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17576681|PMID:17726054|PMID:18217898|PMID:18412286|PMID:18768533|PMID:19689926|PMID:20378560|PMID:20395159|PMID:20603584|PMID:20606162|PMID:20960466|PMID:22045982|PMID:22262766|PMID:22381658|PMID:22783360|PMID:23349008|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25042156|PMID:25132370|PMID:25381059|PMID:25703294|PMID:25741868|PMID:25946618|PMID:26136524|PMID:26604301|PMID:27329125|PMID:27882484|PMID:28102861|PMID:28376382|PMID:28492532|PMID:29114930|PMID:29766597|PMID:30503522|PMID:31574871|PMID:33718801|PMID:35923690|PMID:36321656|PMID:3769971|PMID:9536098|PMID:9988267 68440 Rps19 ribosomal protein S19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 68440 Rps19 ribosomal protein S19 gene DOID:2340 craniosynostosis ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 68440 Rps19 ribosomal protein S19 gene DOID:5419 schizophrenia ISO RGD:68661 D RGD:8554872 20211005 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 68440 Rps19 ribosomal protein S19 gene DOID:687 hepatoblastoma ISO RGD:68661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12586610|PMID:25741868|PMID:28492532 68440 Rps19 ribosomal protein S19 gene DOID:9000217 Stomach Neoplasms ISO RGD:68661 D RGD:11554173 20211005 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 68440 Rps19 ribosomal protein S19 gene DOID:9000918 Disease Progression ISO RGD:68661 D RGD:11554173 20211005 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 68440 Rps19 ribosomal protein S19 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68661 D RGD:11554173 20211005 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 68440 Rps19 ribosomal protein S19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 68440 Rps19 ribosomal protein S19 gene DOID:9269 maple syrup urine disease ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 6893332 Cm74 Cardiac mass QTL 74 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893336 Cm75 Cardiac mass QTL 75 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893338 Cm76 Cardiac mass QTL 76 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893340 Cm77 Cardiac mass QTL 77 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893342 Cm78 Cardiac mass QTL 78 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893344 Cm79 Cardiac mass QTL 79 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893347 Bw98 Body weight QTL 98 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893350 Bw99 Body weight QTL 99 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893352 Bw100 Body weight QTL 100 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893355 Bw101 Body weight QTL 101 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893357 Bw102 Body weight QTL 102 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893359 Bw103 Body weight QTL 103 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893361 Bw104 Body weight QTL 104 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893363 Bw105 Body weight QTL 105 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893366 Bw106 Body weight QTL 106 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893368 Bw107 Body weight QTL 107 qtl DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:1554311|PMID:16097372 20120824 RGD 6893419 Hvcn1em2Mcwi hydrogen voltage-gated channel 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:3525 middle cerebral artery infarction IMP D RGD:14985213|PMID:31250553 20201210 RGD 6893423 Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:0050758 metabolic acidosis IMP D RGD:38500203|PMID:30605394 20201210 RGD compared to SS/JrHsdMcwi 6893423 Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:4500 hypokalemia IMP D RGD:38500204|PMID:28931751 20201210 RGD compared to SS/JrHsdMcwi 6893423 Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin gene DOID:9008852 Respiratory Underresponsiveness to Hypoxia and Hypercapnia IMP D RGD:38500203|PMID:30605394 20201210 RGD compared to SS/JrHsdMcwi 6893434 SS-Kcnj16em1Mcwi-/- strain DOID:0050758 metabolic acidosis IMP D RGD:38500203|PMID:30605394 20200813 RGD compared to SS/JrHsdMcwi 6893434 SS-Kcnj16em1Mcwi-/- strain DOID:4500 hypokalemia IMP D RGD:38500204|PMID:28931751 20200813 RGD compared to SS/JrHsdMcwi 6893434 SS-Kcnj16em1Mcwi-/- strain DOID:9008852 Respiratory Underresponsiveness to Hypoxia and Hypercapnia IMP D RGD:38500203|PMID:30605394 20200813 RGD compared to SS/JrHsdMcwi 6893439 SS-Hvcn1em2Mcwi-/- strain DOID:3525 middle cerebral artery infarction IMP D RGD:14985213|PMID:31250553 20191107 RGD 68935 Snx1 sorting nexin 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:68962 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 68935 Snx1 sorting nexin 1 gene DOID:2717 Bloom syndrome ISO RGD:68962 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68935 Snx1 sorting nexin 1 gene DOID:630 genetic disease ISO RGD:68962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68935 Snx1 sorting nexin 1 gene DOID:9256 colorectal cancer ISO RGD:68962 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 6893530 BBDR.LA-(D5Rat98-D5Rat233)/Rhw strain DOID:4195 hyperglycemia NOT IAGP D RGD:6893459|PMID:19996157 20120905 RGD 6893530 BBDR.LA-(D5Rat98-D5Rat233)/Rhw strain DOID:9352 type 2 diabetes mellitus IAGP D RGD:6893459|PMID:19996157 20120905 RGD only obese males 6893530 BBDR.LA-(D5Rat98-D5Rat233)/Rhw strain DOID:9970 obesity IAGP D RGD:6893459|PMID:19996157 20200304 RGD compared to BBDR/Rhw 6893535 BBDR.LA-(D5Rat98-D5Rat233), BBDP-(D4Mit6-D4Mit7)/Rhw strain DOID:614 lymphopenia IAGP D RGD:6893459|PMID:19996157 20200304 RGD compared to BBDR/Rhw 6893535 BBDR.LA-(D5Rat98-D5Rat233), BBDP-(D4Mit6-D4Mit7)/Rhw strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:6893459|PMID:19996157 20120905 RGD delayed and reduced in females 6893535 BBDR.LA-(D5Rat98-D5Rat233), BBDP-(D4Mit6-D4Mit7)/Rhw strain DOID:9970 obesity IAGP D RGD:6893459|PMID:19996157 20200304 RGD compared to BBDR/Rhw 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:0080600 COVID-19 ISO RGD:68964 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:10763 hypertension IEP D RGD:1600028|PMID:15340004 20070226 RGD protein:increased expression:kidney cortex 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:12387 nephrogenic diabetes insipidus IDA D RGD:1600034|PMID:12944321 20070226 RGD protein:increased expression:kidney cortex 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:68964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:68964 D RGD:61794|PMID:10545938 20070226 RGD DNA:point mutations: ; 1043A>C, 1678G>A 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:1686 glaucoma ISO RGD:68964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:68964 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:68964 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:630 genetic disease ISO RGD:68964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:83 cataract ISO RGD:68964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:68964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9006205 Animal Disease Models ISO RGD:68964 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:7240710 20130221 OMIM 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE PMID:10545938|PMID:11274232|PMID:18658147|PMID:20197274|PMID:21234596|PMID:23362273|PMID:25741868|PMID:28492532 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 68936 Slc4a4 solute carrier family 4 member 4 gene DOID:9008606 Corneal Opacity ISO RGD:68964 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 6893678 Bw108 Body weight QTL 108 qtl DOID:10763 hypertension IAGP D RGD:61516|PMID:11015598 20120918 RGD 6893681 Bw109 Body weight QTL 109 qtl DOID:10763 hypertension IAGP D RGD:61516|PMID:11015598 20120918 RGD 6893683 Bw110 Body weight QTL 110 qtl DOID:10763 hypertension IAGP D RGD:61516|PMID:11015598 20120918 RGD 6893685 Bw111 Body weight QTL 111 qtl DOID:10763 hypertension IAGP D RGD:61516|PMID:11015598 20120918 RGD 68938 Wfdc1 WAP four-disulfide core domain 1 gene DOID:0080600 COVID-19 ISO RGD:68974 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 68938 Wfdc1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer ISO RGD:68974 D RGD:2291859|PMID:15305342 20080401 RGD mRNA:decreased expression:prostate gland 68938 Wfdc1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:68974 D RGD:2291860|PMID:15305341 20080401 RGD protein:decreased expression, increased expression:connective tissue, epithelium 68938 Wfdc1 WAP four-disulfide core domain 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68974 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 68938 Wfdc1 WAP four-disulfide core domain 1 gene DOID:1909 melanoma ISO RGD:68974 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 68938 Wfdc1 WAP four-disulfide core domain 1 gene DOID:630 genetic disease ISO RGD:68974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68940 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:0070271 Lynch syndrome 1 ISO RGD:68984 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 68940 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:68984 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 68940 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:3883 Lynch syndrome ISO RGD:68984 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:18269114|PMID:24323032|PMID:24362816|PMID:28135145|PMID:28492532 68940 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:630 genetic disease ISO RGD:68984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68940 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68984 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24728327|PMID:25741868 68941 Kcnk13 potassium two pore domain channel subfamily K member 13 gene DOID:0080054 achondrogenesis type IA ISO RGD:68985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 68941 Kcnk13 potassium two pore domain channel subfamily K member 13 gene DOID:0080600 COVID-19 ISO RGD:68985 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 68941 Kcnk13 potassium two pore domain channel subfamily K member 13 gene DOID:630 genetic disease ISO RGD:68985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0050753 cerebellar ataxia ISO RGD:68989 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0050952 spastic ataxia ISO RGD:68989 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:7240710 20190315 OMIM 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 PMID:25741868|PMID:26456284|PMID:26715324|PMID:28490766|PMID:28492532|PMID:29629410|PMID:29878067|PMID:32736238|PMID:32860008|PMID:32878331 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:1059 intellectual disability ISO RGD:68989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:1059 intellectual disability ISO RGD:68989 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:1826 epilepsy ISO RGD:68989 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:68989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68989 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:630 genetic disease ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29878067|PMID:32736238|PMID:32878331 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68989 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68989 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:29878067 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2316207|PMID:14615287 20100129 RGD mRNA:increased expression:ventricle (rat) 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9008582 Developmental Disease ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:7240710 20190315 OMIM 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits PMID:25741868|PMID:28492532|PMID:29878067|PMID:30792901|PMID:31217264|PMID:31836334 68942 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:936 brain disease ISO RGD:68989 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:68993 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:11446 sciatic neuropathy IEP D RGD:15042903|PMID:22972512 20191217 RGD mRNA:increased expression:dorsal root ganglion 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:12241 beta thalassemia ISO RGD:68993 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31542421 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:12849 autistic disorder ISO RGD:68993 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16754686 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1825 childhood absence epilepsy ISO RGD:68993 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1825 childhood absence epilepsy ISO RGD:68993 D RGD:1358447|PMID:12891677 19990101 RGD 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1825 childhood absence epilepsy ISO RGD:68993 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: CACNA1H-related disorder PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1826 epilepsy ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:23757202|PMID:24277868|PMID:24972929|PMID:25640679|PMID:25741868|PMID:25773295|PMID:25907736|PMID:26467025|PMID:26587300|PMID:26706850|PMID:27066544|PMID:27148582|PMID:27331657|PMID:27729216|PMID:28166811|PMID:28488083|PMID:28492532|PMID:28842445|PMID:30860130|PMID:31070086|PMID:31130284|PMID:31139143|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:2234 focal epilepsy ISO RGD:68993 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:3007 breast ductal carcinoma ISO RGD:68993 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:26467025|PMID:27148582|PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:446 primary hyperaldosteronism ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism PMID:25741868|PMID:25907736|PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:574 peripheral nervous system disease ISO RGD:68993 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:630 genetic disease ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:24277868|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26587300|PMID:27331657|PMID:28488083|PMID:28492532|PMID:30860130|PMID:31130284|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 susceptibility ISO RGD:68993 D RGD:7240710 20230510 OMIM 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9002211 Hyperalgesia ISO RGD:68993 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism PMID:19577366|PMID:30552955|PMID:34286406 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV ISO RGD:68993 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV ISO RGD:68993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV PMID:17696120|PMID:25741868|PMID:25907736|PMID:26467025|PMID:27331657|PMID:27729216|PMID:28492532 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV susceptibility ISO RGD:68993 D RGD:7240710 20230510 OMIM 68943 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68993 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:0060001 withdrawal disorder treatment ISO RGD:1621299 D RGD:14995950|PMID:25871318 20191104 RGD 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:68996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:25741868 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:10908 hydrocephalus ISO RGD:68996 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:11446 sciatic neuropathy IEP D RGD:15042903|PMID:22972512 20191217 RGD mRNA:increased expression:dorsal root ganglion 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:15042891|PMID:29308060 20191216 RGD DNA:SNP: :rs4522708 (human) 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:15042892|PMID:28725167 20191216 RGD DNA:SNPs: :multiple 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:630 genetic disease ISO RGD:68996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:7240710 20221123 OMIM 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures PMID:33704440 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9002211 Hyperalgesia IMP D RGD:15003199|PMID:17112407 20191107 RGD 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9008086 Developmental Disabilities ISO RGD:68996 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Global developmental delay 68944 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9009131 Ventriculomegaly ISO RGD:68996 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1603864 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:2303380|PMID:19129252 20090210 RGD mRNA:increased expression:kidney 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:10763 hypertension IEP D RGD:2303381|PMID:18952718 20090210 RGD 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:10763 hypertension IEP D RGD:2303383|PMID:16339392 20090210 RGD mRNA:decreased expression:kidney cortex 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:10763 hypertension ISO RGD:730831 D RGD:1625567|PMID:16144986 20070614 RGD 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1603864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 68945 Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1603864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68946 Penk proenkephalin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 68946 Penk proenkephalin gene DOID:0060564 spinal disease IEP D RGD:10003114|PMID:11501038 20150504 RGD mRNA:increased expression:hypothalamus: 68946 Penk proenkephalin gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:68998 D RGD:10003040|PMID:23316929 20150430 RGD 68946 Penk proenkephalin gene DOID:14330 Parkinson's disease IEP D RGD:10003114|PMID:11501038 20150504 RGD mRNA:increased expression:striatum: 68946 Penk proenkephalin gene DOID:1574 alcohol use disorder IEP D RGD:10003152|PMID:22703995 20150505 RGD mRNA:increased expression:frontal lobe: 68946 Penk proenkephalin gene DOID:2559 opiate dependence ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10321497 68946 Penk proenkephalin gene DOID:543 dystonia IEP D RGD:10003100|PMID:22595488 20150501 RGD mRNA:decreased expression:striatum: 68946 Penk proenkephalin gene DOID:630 genetic disease ISO RGD:68998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68946 Penk proenkephalin gene DOID:863 nervous system disease ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12030189 68946 Penk proenkephalin gene DOID:8986 narcolepsy ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 68946 Penk proenkephalin gene DOID:9000641 Pain ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15833551 68946 Penk proenkephalin gene DOID:9002211 Hyperalgesia treatment ISO RGD:68998 D RGD:10003116|PMID:23235561 20150504 RGD associated with Diabetes Mellitus, Experimental; 68946 Penk proenkephalin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 68946 Penk proenkephalin gene DOID:9002331 Knee Osteoarthritis treatment IEP D RGD:10003115|PMID:21928671 20150504 RGD 68946 Penk proenkephalin gene DOID:9002916 Hyperphagia IDA D RGD:10003144|PMID:20603139 20150505 RGD 68946 Penk proenkephalin gene DOID:9006604 Anhedonia IEP D RGD:10003087|PMID:24090157 20150430 RGD 68946 Penk proenkephalin gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:10003103|PMID:21247719 20150501 RGD 68946 Penk proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia IEP D RGD:10003039|PMID:20456008 20150430 RGD mRNA:increased expression:brain:striatum: 68946 Penk proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 68946 Penk proenkephalin gene DOID:9008820 Visceral Pain treatment ISO RGD:68998 D RGD:10003040|PMID:23316929 20150430 RGD 68946 Penk proenkephalin gene DOID:9976 heroin dependence IMP D RGD:10003025|PMID:22683090 20150429 RGD 68947 Stmn2 stathmin 2 gene DOID:630 genetic disease ISO RGD:69000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68948 Bcat2 branched chain amino acid transaminase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 68948 Bcat2 branched chain amino acid transaminase 2 gene DOID:630 genetic disease ISO RGD:69002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 68948 Bcat2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:7240710 20200715 OMIM 68948 Bcat2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia PMID:25653144 68948 Bcat2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14755340 68948 Bcat2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:1300291|PMID:14755340 19990101 RGD 68949 Il13 interleukin 13 gene DOID:0050127 sinusitis ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20358028 68949 Il13 interleukin 13 gene DOID:0050127 sinusitis susceptibility ISO RGD:69008 D RGD:4145767|PMID:20358028 20101115 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) 68949 Il13 interleukin 13 gene DOID:0060496 respiratory allergy ISO RGD:69009 D RGD:4145637|PMID:19564030 20101111 RGD mRNA:increased expression:lung 68949 Il13 interleukin 13 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:1347132 D RGD:8549507|PMID:18849614 20140327 RGD DNA:SNP, missense mutation:promoter, exon:-1112C>T, p.R130Q (human) 68949 Il13 interleukin 13 gene DOID:0060500 drug allergy ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 68949 Il13 interleukin 13 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69008 D RGD:4145478|PMID:18802068 20101105 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 68949 Il13 interleukin 13 gene DOID:0080600 COVID-19 severity ISO RGD:69008 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human) 68949 Il13 interleukin 13 gene DOID:0080600 COVID-19 severity ISO RGD:69008 D RGD:30309212|PMID:31986264 20200619 RGD protein:increased expression:plasma (human) 68949 Il13 interleukin 13 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69009 D RGD:8549563|PMID:19951958 20140328 RGD 68949 Il13 interleukin 13 gene DOID:10966 lipoid nephrosis IMP D RGD:2290347|PMID:17429054 20100415 RGD 68949 Il13 interleukin 13 gene DOID:11132 prostatic hypertrophy IEP D RGD:5684375|PMID:20945403 20111216 RGD mRNA:increased expression:prostate gland 68949 Il13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:8549533|PMID:9191598 20140327 RGD 68949 Il13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:8549595|PMID:22023794 20140331 RGD associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) 68949 Il13 interleukin 13 gene DOID:11263 chlamydia ISO RGD:69009 D RGD:5684365|PMID:21573182 20111216 RGD 68949 Il13 interleukin 13 gene DOID:11396 pulmonary edema ISO RGD:69008 D RGD:4145737|PMID:15635619 20101112 RGD aosciated with Enterovirus Infections 68949 Il13 interleukin 13 gene DOID:11678 onchocerciasis severity ISO RGD:69008 D RGD:8549600|PMID:22805723 20140401 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:11963 esophagitis ISO RGD:69009 D RGD:4145528|PMID:20543112 20101109 RGD 68949 Il13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 68949 Il13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:4765128|PMID:11588017 20140327 RGD DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) 68949 Il13 interleukin 13 gene DOID:12306 vitiligo treatment ISO RGD:69008 D RGD:8549591|PMID:23680073 20140331 RGD 68949 Il13 interleukin 13 gene DOID:12351 alcoholic hepatitis IEP D RGD:1581860|PMID:16698589 20101108 RGD mRNA:increased expression:liver 68949 Il13 interleukin 13 gene DOID:12361 Graves' disease disease_progression ISO RGD:69008 D RGD:7829719|PMID:21235536 20140327 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) 68949 Il13 interleukin 13 gene DOID:12361 Graves' disease susceptibility ISO RGD:69008 D RGD:8549544|PMID:15483090 20140327 RGD DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) 68949 Il13 interleukin 13 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69009 D RGD:4145641|PMID:18250447 20101111 RGD 68949 Il13 interleukin 13 gene DOID:12849 autistic disorder ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 68949 Il13 interleukin 13 gene DOID:12894 Sjogren's syndrome ISO RGD:69008 D RGD:8549582|PMID:12051401 20140331 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:13141 uveitis ISO RGD:69008 D RGD:4145496|PMID:17392164 20101105 RGD 68949 Il13 interleukin 13 gene DOID:13141 uveitis treatment ISO RGD:69008 D RGD:8549551|PMID:11481267 20140328 RGD 68949 Il13 interleukin 13 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69008 D RGD:4145765|PMID:20416219 20101115 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:13378 Kawasaki disease ISO RGD:69009 D RGD:5684363|PMID:21958311 20111216 RGD 68949 Il13 interleukin 13 gene DOID:13976 peptic esophagitis IEP D RGD:2307110|PMID:18222984 20101105 RGD associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid 68949 Il13 interleukin 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:69008 D RGD:5684362|PMID:21985368 20111216 RGD protein:increased expression:plasma 68949 Il13 interleukin 13 gene DOID:1485 cystic fibrosis ISO RGD:69008 D RGD:4312589|PMID:15463872 20101116 RGD mRNA:increased expression:bronchoalveolar lavage fluid 68949 Il13 interleukin 13 gene DOID:1580 diffuse scleroderma ISO RGD:69008 D RGD:5684369|PMID:16832637 20111216 RGD DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) 68949 Il13 interleukin 13 gene DOID:1793 pancreatic cancer ISO RGD:69008 D RGD:2317670|PMID:12808442 20100415 RGD 68949 Il13 interleukin 13 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69008 D RGD:2317669|PMID:18758789 20100415 RGD protein:increased expression:pancreas 68949 Il13 interleukin 13 gene DOID:1883 hepatitis C ISO RGD:69008 D RGD:40400745|PMID:17553896 20201109 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 68949 Il13 interleukin 13 gene DOID:1883 hepatitis C disease_progression ISO RGD:69008 D RGD:40400745|PMID:17553896 20201109 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) 68949 Il13 interleukin 13 gene DOID:2048 autoimmune hepatitis ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 68949 Il13 interleukin 13 gene DOID:2377 multiple sclerosis ISO RGD:69008 D RGD:5684368|PMID:22031307 20111216 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:2377 multiple sclerosis severity ISO RGD:69008 D RGD:8549589|PMID:21677024 20140331 RGD protein:increased expression:cerebrospinal fluid 68949 Il13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 68949 Il13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:8549505|PMID:23171465 20140327 RGD DNA:SNP:promoter:rs20541 (human) 68949 Il13 interleukin 13 gene DOID:2773 contact dermatitis treatment ISO RGD:69009 D RGD:8549563|PMID:19951958 20140328 RGD 68949 Il13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69008|RGD:69009 D RGD:4146242|PMID:17182591 20101116 RGD protein:increased expression:bronchoalveolar lavage fluid 68949 Il13 interleukin 13 gene DOID:2841 asthma IDA D RGD:4145453|PMID:20819635 20101104 RGD 68949 Il13 interleukin 13 gene DOID:2841 asthma IEP D RGD:2307110|PMID:18222984 20101105 RGD mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid 68949 Il13 interleukin 13 gene DOID:2841 asthma IMP D RGD:2301686|PMID:12604708 20081028 RGD 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:4145776|PMID:18341619 20101115 RGD DNA:polymorphism: :c. 2044G>A (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:4146241|PMID:17303794 20101116 RGD DNA:SNP: :c. -646A>G (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:4892639|PMID:17006604 20110228 RGD DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:8549509|PMID:23317483 20140327 RGD associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10699178|PMID:11588017|PMID:11709756|PMID:12847555|PMID:12928861|PMID:15356556|PMID:15483090|PMID:15711639|PMID:15879126 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69009 D RGD:4145508|PMID:16393274 20101108 RGD 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69009 D RGD:4145664|PMID:12091879 20101112 RGD 68949 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69009 D RGD:4206706|PMID:16120094 20101116 RGD 68949 Il13 interleukin 13 gene DOID:2841 asthma no_association ISO RGD:69008 D RGD:4763761|PMID:11678850 20101117 RGD DNA:polymorphism:cds:p.R130Q (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:4145593|PMID:20198887 20101110 RGD DNA:polymorphism: :c.-1055C>T (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:4145777|PMID:18328894 20101115 RGD protein:increased expression:sputum 68949 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:4763153|PMID:11758895 20101117 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69009 D RGD:4145639|PMID:18258919 20101111 RGD 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:4145534|PMID:20484924 20101110 RGD DNA:polymorphisms: :rs20541, rs1295685(human) 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:4145601|PMID:19796199 20101110 RGD DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:4145775|PMID:19575932 20101115 RGD DNA:polymorphism: :c. 1923C>T (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:4220633|PMID:16024972 20101116 RGD DNA:polymorphism:promoter:c. -1055C>T (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:4321828|PMID:15315330 20101116 RGD DNA:polymorphism: :p. R110Q (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:4765128|PMID:11588017 20101117 RGD DNA:polymorphism:3'utr:c.4738G>A (human) 68949 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 68949 Il13 interleukin 13 gene DOID:2957 pulmonary tuberculosis ISO RGD:69008 D RGD:4145649|PMID:10608794 20101111 RGD mRNA:increased expression:Leukocytes, Mononuclear 68949 Il13 interleukin 13 gene DOID:3008 invasive ductal carcinoma ISO RGD:69008 D RGD:8549515|PMID:22135852 20140327 RGD protein:increased expression:breast 68949 Il13 interleukin 13 gene DOID:3044 food allergy ISO RGD:69009 D RGD:5684372|PMID:22038918 20111216 RGD mRNA:increased expression:small intestine 68949 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69008 D RGD:4145714|PMID:15820084 20101112 RGD DNA:SNP:promoter:c.-1055 C>T (human) 68949 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:4145596|PMID:19995275 20101110 RGD DNA:polymorphism:promoter:c.-1055C>T (human) 68949 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:4145601|PMID:19796199 20101110 RGD DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) 68949 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:4145668|PMID:15308043 20101112 RGD DNA:polymorphism: :c. 1103C>T (human) 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22355542 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:5684364|PMID:21913997 20111216 RGD DNA:SNPs: :rs3091307, rs20541 (human) 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:8549529|PMID:10887320 20140327 RGD DNA:SNP:exon:4257G>A (human) 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:8549583|PMID:16672002 20140331 RGD 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69008 D RGD:8549509|PMID:23317483 20140327 RGD DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69009 D RGD:8549539|PMID:17313488 20140327 RGD 68949 Il13 interleukin 13 gene DOID:3310 atopic dermatitis treatment ISO RGD:69009 D RGD:8549531|PMID:19006098 20140327 RGD 68949 Il13 interleukin 13 gene DOID:3326 purpura susceptibility ISO RGD:69008 D RGD:11528572|PMID:16166103 20160816 RGD associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) 68949 Il13 interleukin 13 gene DOID:350 mastocytosis ISO RGD:69008 D RGD:8549523|PMID:19178408 20140327 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) 68949 Il13 interleukin 13 gene DOID:3525 middle cerebral artery infarction IEP D RGD:7204480|PMID:23028794 20140401 RGD protein:increased expression:cerebral cortex 68949 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15322207 68949 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:4145627|PMID:19654941 20101110 RGD idiopathic pulmonary fibrosis 68949 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69009 D RGD:4888529|PMID:20176803 20101123 RGD 68949 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:2314537|PMID:19154443 20101105 RGD 68949 Il13 interleukin 13 gene DOID:4001 ovarian carcinoma ISO RGD:69008 D RGD:2290344|PMID:14984938 20080310 RGD 68949 Il13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69008 D RGD:5684371|PMID:9034992 20111216 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69009 D RGD:5684370|PMID:15564778 20111216 RGD mRNA, protein:increased expression:skin 68949 Il13 interleukin 13 gene DOID:418 systemic scleroderma no_association ISO RGD:69008 D RGD:8549502|PMID:22045834 20140327 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) 68949 Il13 interleukin 13 gene DOID:4376 milk allergy ISO RGD:69008 D RGD:8549541|PMID:19220774 20140327 RGD associated with Dermatitis, Atopic; DNA:missense mutation:cds:p.R130Q (c.389G>A) (rs20541) (human) 68949 Il13 interleukin 13 gene DOID:4377 egg allergy ISO RGD:69008 D RGD:8549541|PMID:19220774 20140327 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) 68949 Il13 interleukin 13 gene DOID:4378 peanut allergy ISO RGD:69008 D RGD:8549541|PMID:19220774 20140327 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) 68949 Il13 interleukin 13 gene DOID:4404 occupational dermatitis ISO RGD:69009 D RGD:8549579|PMID:19254288 20140331 RGD 68949 Il13 interleukin 13 gene DOID:4450 renal cell carcinoma ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22317767 68949 Il13 interleukin 13 gene DOID:4481 allergic rhinitis ISO RGD:69008 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 68949 Il13 interleukin 13 gene DOID:4481 allergic rhinitis no_association ISO RGD:69008 D RGD:8549516|PMID:12928861 20140327 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) 68949 Il13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:4152796|PMID:17091279 20101116 RGD DNA:polymorphism:exon:c. 2044G>A (human) 68949 Il13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 68949 Il13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:8549501|PMID:23996716 20140327 RGD DNA:SNP:promoter:-1512A>C (rs1881457) (human) 68949 Il13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:8549518|PMID:22852128 20140327 RGD DNA:missense mutation:cds:p.R130Q (rs20541) (human) 68949 Il13 interleukin 13 gene DOID:4483 rhinitis IEP D RGD:4145454|PMID:20696593 20101104 RGD mRNA:increased expression:nose 68949 Il13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:69009 D RGD:4206706|PMID:16120094 20101116 RGD 68949 Il13 interleukin 13 gene DOID:4483 rhinitis disease_progression ISO RGD:69009 D RGD:4159171|PMID:17088137 20101116 RGD 68949 Il13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:4145534|PMID:20484924 20101110 RGD DNA:polymorphism: :rs1800925 (human) 68949 Il13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:4145767|PMID:20358028 20101115 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) 68949 Il13 interleukin 13 gene DOID:4989 pancreatitis IEP D RGD:4145466|PMID:20100461 20101104 RGD protein:increased expression:pancreas 68949 Il13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:69008 D RGD:4145466|PMID:20100461 20101104 RGD protein:increased expression:pancreas 68949 Il13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 68949 Il13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:4145774|PMID:19695190 20101115 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:bronchoalveolar lavage fluid 68949 Il13 interleukin 13 gene DOID:630 genetic disease ISO RGD:69008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68949 Il13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:4145600|PMID:19799786 20101110 RGD associated with sclerosis; protein:increased expression:plasma (human) 68949 Il13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:8549528|PMID:21425123 20140327 RGD associated with Scleroderma, Limited;protein:increased expression:plasma 68949 Il13 interleukin 13 gene DOID:7148 rheumatoid arthritis ISO RGD:69008 D RGD:8549582|PMID:12051401 20140331 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis IMP D RGD:4145650|PMID:9916735 20101111 RGD 68949 Il13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69009 D RGD:5128548|PMID:20861649 20101109 RGD mRNA:increased expression:lung 68949 Il13 interleukin 13 gene DOID:8472 localized scleroderma ISO RGD:69008 D RGD:8549537|PMID:12920362 20140327 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22355542 68949 Il13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:4145526|PMID:20716936 20101109 RGD associated with Behcet Syndrome; protein:increased expression:Bronchoalveolar lavage fluid 68949 Il13 interleukin 13 gene DOID:850 lung disease ISO RGD:69009 D RGD:4145647|PMID:17404281 20101111 RGD acute lung injury 68949 Il13 interleukin 13 gene DOID:8893 psoriasis ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 68949 Il13 interleukin 13 gene DOID:8893 psoriasis no_association ISO RGD:69008 D RGD:8549517|PMID:21349879 20140327 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human 68949 Il13 interleukin 13 gene DOID:8893 psoriasis susceptibility ISO RGD:69008 D RGD:8549593|PMID:23617596 20140331 RGD DNA:missense mutation:cds: (rs20541) (human) 68949 Il13 interleukin 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69008 D RGD:8549587|PMID:17545514 20140331 RGD associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node 68949 Il13 interleukin 13 gene DOID:9000156 Metaplasia ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21203431 68949 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12654629|PMID:23434795 68949 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:4145432|PMID:15236177 20140402 RGD associated with Eosinophilic enteropathy 68949 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:4761594|PMID:12669034 20101117 RGD 68949 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:69008 D RGD:4765128|PMID:11588017 20101117 RGD DNA:SNP:promoter:-1055C>T (human) 68949 Il13 interleukin 13 gene DOID:9000784 Fibrosis treatment IEP D RGD:8549644|PMID:12947342 20140401 RGD associated with Venous Thrombosis 68949 Il13 interleukin 13 gene DOID:9001472 Nasal Polyps ISO RGD:69008 D RGD:8549540|PMID:23969075 20140327 RGD associated with Rhinosinusitis;protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:9001488 Human Influenza ISO RGD:69008 D RGD:4888530|PMID:20003352 20101123 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69008 D RGD:8549555|PMID:11399514 20140328 RGD 68949 Il13 interleukin 13 gene DOID:9002221 Hyperplasia ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 68949 Il13 interleukin 13 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:69009 D RGD:8549624|PMID:10857756 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment IMP D RGD:8549607|PMID:15902684 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10444273 68949 Il13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:4889497|PMID:17665443 20101203 RGD 68949 Il13 interleukin 13 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:8549606|PMID:11860705 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9002605 Delayed Hypersensitivity treatment ISO RGD:69009 D RGD:8549563|PMID:19951958 20140328 RGD 68949 Il13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69008 D RGD:5684367|PMID:7523520 20111216 RGD 68949 Il13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:69009 D RGD:5684366|PMID:18250480 20111216 RGD 68949 Il13 interleukin 13 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159|PMID:22967010 68949 Il13 interleukin 13 gene DOID:9002869 Schistosomiasis Mansoni treatment IMP D RGD:8549615|PMID:10903803 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9003157 Respiratory Sounds ISO RGD:69008 D RGD:4145779|PMID:18312531 20101115 RGD associated with Bronchiolitis; protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:9003470 Picornaviridae Infections ISO RGD:69009 D RGD:4145626|PMID:19748999 20101110 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung 68949 Il13 interleukin 13 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69008 D RGD:4782826|PMID:8520776 20101117 RGD mRNA, protein:increased expression:nasal mucosa 68949 Il13 interleukin 13 gene DOID:9004009 Reperfusion Injury IEP D RGD:2301685|PMID:18354382 20101105 RGD protein:decreased expression:plasma 68949 Il13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:69008 D RGD:2301685|PMID:18354382 20081028 RGD 68949 Il13 interleukin 13 gene DOID:9004283 Transplant Rejection IEP D RGD:10402939|PMID:17532783 20151103 RGD mRNA:increased expression:liver 68949 Il13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment IDA D RGD:8549647|PMID:17331844 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:69008 D RGD:8549629|PMID:17902182 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69008 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 68949 Il13 interleukin 13 gene DOID:9004484 Sepsis IEP D RGD:8549643|PMID:21159497 20140401 RGD protein:decreased expression:ileum 68949 Il13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:69009 D RGD:4145654|PMID:10679115 20101111 RGD 68949 Il13 interleukin 13 gene DOID:9004610 Acute Lung Injury IEP D RGD:4145512|PMID:15461830 20101108 RGD mRNA:increased expression:lung 68949 Il13 interleukin 13 gene DOID:9005372 Inflammation ISO RGD:69008 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 68949 Il13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases IEP D RGD:4145506|PMID:16544260 20101108 RGD protein:increased expression:lung 68949 Il13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:69009 D RGD:4145474|PMID:19752036 20101105 RGD protein:increased expression:lung 68949 Il13 interleukin 13 gene DOID:9005930 Endotoxemia treatment ISO RGD:69008 D RGD:8549626|PMID:10674721 20140401 RGD 68949 Il13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 68949 Il13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 68949 Il13 interleukin 13 gene DOID:9007356 Eczema ISO RGD:69008 D RGD:8549530|PMID:23815671 20140327 RGD DNA:SNP:CDS:p.R130Q (rs20541) (human) 68949 Il13 interleukin 13 gene DOID:9007356 Eczema no_association ISO RGD:69008 D RGD:8549512|PMID:18410415 20140327 RGD DNA:polymorphisms: :multiple 68949 Il13 interleukin 13 gene DOID:9007417 Pseudomonas Infections ISO RGD:69008 D RGD:4145500|PMID:16387607 20101112 RGD associated with Cystic Fibrosis 68949 Il13 interleukin 13 gene DOID:9007651 Chronic Bronchitis ISO RGD:69008 D RGD:4759835|PMID:14582911 20101117 RGD protein:increased expression:Respiratory Mucosa 68949 Il13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:8549517|PMID:21349879 20140327 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human 68949 Il13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:8549552|PMID:19554022 20140328 RGD DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human) 68949 Il13 interleukin 13 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69008 D RGD:5131286|PMID:20811626 20101109 RGD associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human) 68949 Il13 interleukin 13 gene DOID:9008680 Respiratory Tract Infections ISO RGD:69008 D RGD:4145665|PMID:14633438 20101112 RGD Severe Acute Respiratory Syndrome 68949 Il13 interleukin 13 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:69008 D RGD:8549503|PMID:18989750 20140327 RGD DNA:SNPs, haplotypes:promoter, exon:-1512A>C, -1055C>T, 2044G>A (human) 68949 Il13 interleukin 13 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69008 D RGD:8549557|PMID:17438063 20140328 RGD 68949 Il13 interleukin 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:69008 D RGD:8549582|PMID:12051401 20140331 RGD protein:increased expression:serum 68949 Il13 interleukin 13 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:69009 D RGD:8549536|PMID:12739821 20140327 RGD 68949 Il13 interleukin 13 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:69009 D RGD:8549561|PMID:18924210 20140328 RGD 68949 Il13 interleukin 13 gene DOID:9498 pulmonary eosinophilia ISO RGD:69009 D RGD:8549597|PMID:12574374 20140401 RGD associated with Respiratory Syncytial Virus Infections 68949 Il13 interleukin 13 gene DOID:9675 pulmonary emphysema ISO RGD:69009 D RGD:4145652|PMID:11067861 20101111 RGD 68952 Ryr3 ryanodine receptor 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:69015 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:69015 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 68952 Ryr3 ryanodine receptor 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69015 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:13938 amenorrhea ISO RGD:69015 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 68952 Ryr3 ryanodine receptor 3 gene DOID:1826 epilepsy ISO RGD:69015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:2717 Bloom syndrome ISO RGD:69015 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:69015 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:630 genetic disease ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:25741868|PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69015 D RGD:155882454|PMID:26309413 20230119 RGD DNA:SNP:3'UTR:rs1044129(human) 68952 Ryr3 ryanodine receptor 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25262651|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29498452|PMID:31230720|PMID:9536098 68952 Ryr3 ryanodine receptor 3 gene DOID:9006540 Congenital Myopathy 20 ISO RGD:69015 D RGD:7240710 20230505 OMIM 68952 Ryr3 ryanodine receptor 3 gene DOID:9006540 Congenital Myopathy 20 ISO RGD:69015 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myopathy 20 PMID:28492532|PMID:29498452|PMID:31230720 68952 Ryr3 ryanodine receptor 3 gene DOID:9006836 Contracture ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:28492532|PMID:29498452|PMID:31230720 68952 Ryr3 ryanodine receptor 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 68952 Ryr3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 68952 Ryr3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 68953 Fdps farnesyl diphosphate synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 68953 Fdps farnesyl diphosphate synthase gene DOID:0111940 immunodeficiency 42 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 68953 Fdps farnesyl diphosphate synthase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 68953 Fdps farnesyl diphosphate synthase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 68953 Fdps farnesyl diphosphate synthase gene DOID:1540 parathyroid carcinoma ISO RGD:69022 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68953 Fdps farnesyl diphosphate synthase gene DOID:5812 MHC class II deficiency ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 68953 Fdps farnesyl diphosphate synthase gene DOID:630 genetic disease ISO RGD:69022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68953 Fdps farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:7240710 20151209 OMIM 68953 Fdps farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:8554872 20151215 ClinVar ClinVar Annotator: match by term: Porokeratosis 9, multiple types PMID:26202976 68953 Fdps farnesyl diphosphate synthase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69022 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31774873 68953 Fdps farnesyl diphosphate synthase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69022 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0050563 nonsyndromic deafness ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:16648378|PMID:17492394|PMID:18544103|PMID:20301750|PMID:21917145|PMID:24033266|PMID:25741868|PMID:26346818|PMID:28492532|PMID:29529044|PMID:30311386|PMID:32567228 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0050952 spastic ataxia ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12955714|PMID:15605410|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33879153 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:7240710 20141015 OMIM 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant PMID:10521293|PMID:10679252|PMID:11244483|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20069065|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25133958|PMID:25211237|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27217304|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32219690|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:7240710 20141015 OMIM 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41 PMID:10521293|PMID:10679252|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12707373|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21356526|PMID:21446023|PMID:21538838|PMID:21564155|PMID:21602428|PMID:23429432|PMID:23531866|PMID:23981289|PMID:24033266|PMID:24088041|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25542043|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28271504|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30311386|PMID:30663027|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31638168|PMID:32179840|PMID:32700054|PMID:32883240|PMID:33046911|PMID:33297549|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:7240710 20130221 OMIM 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12181639|PMID:12490066|PMID:12565131|PMID:12782971|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16408729|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:22938506|PMID:23257691|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28974383|PMID:28993341|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31600780|PMID:31765440|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34737607|PMID:34746052|PMID:34803393|PMID:35469785|PMID:35472603|PMID:8595423|PMID:9536098|PMID:9817917 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:7240710 20180919 OMIM 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11317350|PMID:1161832|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16195229|PMID:16199547|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18660851|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19344068|PMID:19877185|PMID:20028947|PMID:20160352|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21454619|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22226368|PMID:22238590|PMID:22662265|PMID:22797899|PMID:22938506|PMID:23257691|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23596069|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24088041|PMID:24117146|PMID:24227685|PMID:24424032|PMID:24497219|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25250959|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26773575|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27434582|PMID:27468121|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28502252|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28993341|PMID:29048421|PMID:29183106|PMID:29207974|PMID:29447883|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31266054|PMID:31313226|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31765440|PMID:31850070|PMID:32141364|PMID:32179840|PMID:32382995|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33538814|PMID:33841295|PMID:3387915|PMID:33879153|PMID:34258273|PMID:34737607|PMID:34746052|PMID:34803393|PMID:34970515|PMID:8808601|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32141364|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111441 optic atrophy 1 ISO RGD:731649 D RGD:7800683|PMID:21538838 20140115 RGD DNA:missense mutations, deletion:multiple 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss PMID:12107816|PMID:22238590|PMID:24033266|PMID:25741868|PMID:28492532 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8694398|PMID:11709537 20140804 RGD DNA:missense mutations: :multiple 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8694401|PMID:12107816 20140804 RGD associated with Diabetes Mellitus, Type 2 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8694404|PMID:23595122 20140804 RGD DNA:missense mutation:cds:p.R456H (rs1801206) (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10603 glucose intolerance treatment IMP XCO:0000907 D RGD:150519890|PMID:29976929 20211021 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10632 Wolfram syndrome ISO RGD:731649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24705017 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10632 Wolfram syndrome ISO RGD:731649 D RGD:1599813|PMID:9771706 20070215 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10632 Wolfram syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome PMID:10521293|PMID:11161832|PMID:11244483|PMID:1161832|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15277431|PMID:16806192|PMID:17568405|PMID:17603484|PMID:18060660|PMID:19344068|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23429432|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:26875006|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30773290|PMID:30957632|PMID:31567480|PMID:32141364|PMID:33879153 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:11832 visual epilepsy treatment IEP D RGD:8694408|PMID:19799711 20140804 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:12849 autistic disorder ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26435059|PMID:26969326|PMID:28492532|PMID:29529044|PMID:32883240|PMID:33879153 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:2055 post-traumatic stress disorder treatment IEP D RGD:8694407|PMID:17968352 20140804 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:2785 Dandy-Walker syndrome ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:10521293|PMID:17568405|PMID:18700423|PMID:20888932|PMID:25741868 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:5723 optic atrophy ISO RGD:731649 D RGD:8694404|PMID:23595122 20140804 RGD DNA:missense mutation:cds:p.R456H (rs1801206) (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:630 genetic disease ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521293|PMID:11161832|PMID:11295831|PMID:11317350|PMID:11709537|PMID:11811080|PMID:11920861|PMID:12073007|PMID:12707373|PMID:12913071|PMID:12955714|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18700423|PMID:19042979|PMID:19877185|PMID:20301750|PMID:20738327|PMID:20875904|PMID:20888932|PMID:21067485|PMID:21143470|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23429432|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25714468|PMID:25741868|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27395765|PMID:27468121|PMID:28432734|PMID:28492532|PMID:29048421|PMID:29529044|PMID:29563951|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31600780|PMID:31765440|PMID:31850070|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34404380|PMID:35469785|PMID:35472603|PMID:9856492 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:6678 tooth and nail syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract ISO RGD:731649 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract onset IMP D RGD:149735331|PMID:28860598 20210805 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9000053 Headache ISO RGD:731649 D RGD:8694403|PMID:17719176 20140804 RGD DNA:missense mutation: :p.H611R (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9004538 Hearing Loss ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11161832|PMID:11317350|PMID:12073007|PMID:15605410|PMID:22238590|PMID:23429432|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25211237|PMID:25741868|PMID:27395765|PMID:28492532|PMID:29563951|PMID:30311386|PMID:31343797|PMID:31391115|PMID:31765440|PMID:31850070 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:24033266|PMID:28492532|PMID:33879153 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10521293|PMID:10624825|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12707373|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:22797899|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23981289|PMID:24033266|PMID:24497219|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25262649|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27395765|PMID:27468121|PMID:27617222|PMID:28432734|PMID:28492532|PMID:28502252|PMID:28559085|PMID:29207974|PMID:29529044|PMID:29563951|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31391115|PMID:31567480|PMID:31600780|PMID:31638168|PMID:31765440|PMID:31850070|PMID:32179840|PMID:33046911|PMID:33538814|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:35469785|PMID:35472603 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus ISO RGD:731649 D RGD:8694404|PMID:23595122 20140804 RGD DNA:missense mutations:cds:p.R456H, p.R611H (rs1801206, rs1801214) (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus onset IMP D RGD:149735331|PMID:28860598 20210805 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17603484 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:7240710 20130221 OMIM 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25326637|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29632382|PMID:29988211|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:33116287|PMID:33879153|PMID:34746052|PMID:9856492 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8694394|PMID:18040659 20140804 RGD DNA:SNP: :rs752854 (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8694401|PMID:12107816 20140804 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8694405|PMID:11916957 20140804 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731649 D RGD:8694399|PMID:18060660 20140804 RGD DNA:SNPs: :rs734312, rs752854, rs10010131 (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731649 D RGD:8694400|PMID:21713316 20140804 RGD DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731649 D RGD:8694402|PMID:10679252 20140804 RGD DNA:missense mutation: :p.R456H (human) 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731650 D RGD:8694393|PMID:15056606 20140804 RGD 68954 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731649 D RGD:8694396|PMID:15008830 20140804 RGD DNA:mutations:exons, 5' utr, 3' utr:multiple 68955 Fstl1 follistatin-like 1 gene DOID:3021 acute kidney failure ISO RGD:69033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20861081 68955 Fstl1 follistatin-like 1 gene DOID:418 systemic scleroderma ISO RGD:69033 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 68955 Fstl1 follistatin-like 1 gene DOID:57 aortic valve insufficiency ISO RGD:69033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 68955 Fstl1 follistatin-like 1 gene DOID:630 genetic disease ISO RGD:69033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68955 Fstl1 follistatin-like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 68955 Fstl1 follistatin-like 1 gene DOID:9004657 Weight Gain ISO RGD:69033 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 68955 Fstl1 follistatin-like 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69033 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 68955 Fstl1 follistatin-like 1 gene DOID:9675 pulmonary emphysema ISS RGD:1332393 D RGD:13592920 20220407 MouseDO OMIM:130700 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:14679 VACTERL association ISS RGD:69036 D RGD:13592920 20180518 MouseDO OMIM:192350 | OMIM:276950 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:69035 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:303 substance-related disorder ISO RGD:69035 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:630 genetic disease ISO RGD:69035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:69035 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 68957 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69035 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 6902893 BB.SHR-(Acsm3-Igf2)/K strain DOID:9001981 Weight Loss sexual_dimorphism IAGP D RGD:69701|PMID:9530625 20120919 RGD only males; as compared to BB/OK males 6903294 Stl30 Serum triglyceride level QTL 30 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903294 Stl30 Serum triglyceride level QTL 30 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903300 Scl33 Serum cholesterol QTL 33 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903300 Scl33 Serum cholesterol QTL 33 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903303 Scl34 Serum cholesterol QTL 34 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903303 Scl34 Serum cholesterol QTL 34 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903306 Scl35 Serum cholesterol QTL 35 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903306 Scl35 Serum cholesterol QTL 35 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903308 Scl36 Serum cholesterol QTL 36 qtl DOID:9000808 Hypercholesterolemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903308 Scl36 Serum cholesterol QTL 36 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903312 Bw112 Body weight QTL 112 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903312 Bw112 Body weight QTL 112 qtl DOID:9970 obesity IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903316 Bw113 Body weight QTL 113 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903316 Bw113 Body weight QTL 113 qtl DOID:9970 obesity IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903319 Bw114 Body weight QTL 114 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903319 Bw114 Body weight QTL 114 qtl DOID:9970 obesity IAGP D RGD:1299960|PMID:14709677 20121002 RGD 6903345 Bp349 Blood pressure QTL 349 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903347 Bp350 Blood pressure QTL 350 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903349 Bp351 Blood pressure QTL 351 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903351 Bp352 Blood pressure QTL 352 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903353 Bp353 Blood pressure QTL 353 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903356 Bp354 Blood pressure QTL 354 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903359 Bp355 Blood pressure QTL 355 qtl DOID:10763 hypertension IAGP D RGD:69700|PMID:11015589 20121002 RGD 6903937 Bp356 Blood pressure QTL 356 qtl DOID:9006024 Hypotension IAGP D RGD:6903249|PMID:21814219 20121008 RGD 6903941 Pur31 Proteinuria QTL 31 qtl DOID:576 proteinuria IAGP D RGD:6903249|PMID:21814219 20121008 RGD 69048 Fabp3 fatty acid binding protein 3 gene DOID:0080000 muscular disease ISO RGD:69087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 69048 Fabp3 fatty acid binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:69087 D RGD:1578460|PMID:15068254 19990101 RGD protein:decreased expression:cerebral cortex (human) 69048 Fabp3 fatty acid binding protein 3 gene DOID:10763 hypertension susceptibility ISO RGD:69087 D RGD:2307331|PMID:18437121 20090527 RGD DNA:SNPs 69048 Fabp3 fatty acid binding protein 3 gene DOID:14250 Down syndrome ISO RGD:69087 D RGD:1578460|PMID:15068254 19990101 RGD protein:decreased expression:cerebral cortex (human) 69048 Fabp3 fatty acid binding protein 3 gene DOID:5844 myocardial infarction ISO RGD:69087 D RGD:1582401|PMID:8326460 20061107 RGD 69048 Fabp3 fatty acid binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2307330|PMID:7744030 20090527 RGD mRNA, protein:decreased expression:aorta 69048 Fabp3 fatty acid binding protein 3 gene DOID:9005749 Necrosis ISO RGD:69087 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 69048 Fabp3 fatty acid binding protein 3 gene DOID:9007692 Insulin Resistance severity ISO RGD:69088 D RGD:1578459|PMID:16249436 19990101 RGD 69048 Fabp3 fatty acid binding protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69087 D RGD:1578461|PMID:12872269 19990101 RGD DNA:deletion:3' utr:c.634+483delT (human) 69048 Fabp3 fatty acid binding protein 3 gene DOID:9970 obesity ISO RGD:69087 D RGD:2307328|PMID:17515913 20090527 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69095 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:69095 D RGD:14995457|PMID:28891831 20191025 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0050697 chorioamnionitis severity ISO RGD:69095 D RGD:4145137|PMID:19332995 20101026 RGD protein:increased expression:amniotic fluid 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0050777 Joubert syndrome ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0060224 atrial fibrillation ISO RGD:69095 D RGD:242905189|PMID:33236535 20230327 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0080000 muscular disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21152098 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69095 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:21664615|PMID:32613381 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0080820 occupational asthma ISO RGD:69095 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0081292 traumatic brain injury treatment IEP D RGD:14995478|PMID:28433746 20191025 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:0111243 acromicric dysplasia ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10140 dry eye syndrome ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22194977 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10283 prostate cancer ISO RGD:69095 D RGD:7394822|PMID:1289674 20131105 RGD protein:increased expression:prostate gland 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10322 berylliosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15750822|PMID:17785866 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10322 berylliosis severity ISO RGD:69095 D RGD:4145294|PMID:17785866 20101029 RGD DNA:polymorphisms: :-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10763 hypertension IAGP D RGD:30296650|PMID:11682445 20200831 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10763 hypertension IEP D RGD:12879474|PMID:12771048 20170421 RGD protein:increased expression:renal glomerulus 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10763 hypertension IEP D RGD:1601552|PMID:17364610 20070424 RGD protein:increased expression:vascular associated smooth muscle cell 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10763 hypertension IEP D RGD:28912746|PMID:11907153 20200902 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10763 hypertension ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:19018797 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10763 hypertension ISO RGD:69095 D RGD:1331525|PMID:15118671 19990101 GAD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:10923 sickle cell anemia ISO RGD:69095 D RGD:11062147|PMID:26928604 20160427 RGD protein:increased expression:plasma: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11168 anogenital venereal wart ISO RGD:69095 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10785|RGD:69096 D RGD:11041889|PMID:16914468 20160401 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11263 chlamydia treatment ISO RGD:69095 D RGD:38455984|PMID:30832593 20200807 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11335 sarcoidosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785866 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:114 heart disease ISO RGD:69095 D RGD:1601581|PMID:15938827 20070425 RGD associated with pulmonary hypertension;mRNA:increased expression:lung, arteriole 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11476 osteoporosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12706579 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11476 osteoporosis treatment IEP D RGD:10003128|PMID:17647196 20150504 RGD associated with Uremia;protein:increased expression:osteoblast, osteoclast 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11664 nephrosclerosis ISO RGD:69095 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1168 familial hyperlipidemia IEP D RGD:2306735|PMID:19001732 20090504 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1168 familial hyperlipidemia treatment IDA D RGD:1601559|PMID:16834981 20070424 RGD associated with Chronic Kidney Failure;mRNA:increased expression:kidney 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1184 nephrotic syndrome ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1281619|PMID:8023968|PMID:10515446 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:69096 D RGD:11073617|PMID:22134166 20160429 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1205 allergic disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138248|PMID:21625544 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:69095 D RGD:11055683|PMID:25930091 20160427 RGD DNA:polymorphism: :869T>C(rs1982037)(human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69095 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12306 vitiligo ISO RGD:69095 D RGD:8663475|PMID:22342018 20140703 RGD protein:decreased expression:serum: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12361 Graves' disease ISO RGD:69095 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12449 aplastic anemia severity ISO RGD:69095 D RGD:11073606|PMID:24028718 20160429 RGD protein:decreased expression: : 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:69095 D RGD:11073601|PMID:24362456 20160428 RGD DNA:polymorphism: :509C>T(human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12577 urethral obstruction treatment IEP D RGD:7394856|PMID:24066596 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:7394829|PMID:9358754 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12894 Sjogren's syndrome ISS RGD:69096 D RGD:13592920 20180518 MouseDO OMIM:270150 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12894 Sjogren's syndrome severity ISO RGD:69096 D RGD:7394845|PMID:7554451 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491|PMID:20493835 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13141 uveitis treatment ISO RGD:69095 D RGD:7394815|PMID:9008650 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13241 Behcet's disease ISO RGD:69095 D RGD:5147902|PMID:21640045 20110826 RGD DNA:polymorphism:promoter:exon (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:69095 D RGD:11073604|PMID:24399159 20160429 RGD protein:increased expression:plasma: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:69095 D RGD:4145294|PMID:17785866 20101029 RGD DNA:polymorphisms: :-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:69096 D RGD:14995440|PMID:30940161 20191024 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13608 biliary atresia treatment ISO RGD:69095 D RGD:14985228|PMID:30686515 20191014 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:69095 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087|PMID:31932644 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:69095 D RGD:11073602|PMID:24486052 20160428 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:4145125|PMID:19830844 20101026 RGD protein:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:7240710 20130221 OMIM 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:69095 D RGD:13432074|PMID:11166150 20170918 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1532 pleural disease ISO RGD:69095 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1555 urticaria ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19138248 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1588 thrombocytopenia ISO RGD:69096 D RGD:11073617|PMID:22134166 20160429 RGD protein:decreased expression:plasma: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer ISO RGD:69095 D RGD:7394794|PMID:7543740 20131105 RGD protein:increased expression:plasma 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer disease_progression ISO RGD:69095 D RGD:7394832|PMID:18075785 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:7394853|PMID:17848193 20131105 RGD DNA:polymorphism: :p.L10P (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:7394854|PMID:20157775 20131105 RGD DNA:polymorphism: :29T>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer severity ISO RGD:69095 D RGD:7394846|PMID:20640597 20131105 RGD DNA:SNP: :rs1982073 (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer susceptibility ISO RGD:69095 D RGD:7394850|PMID:20232138 20131105 RGD DNA:SNP:promoter:-509 C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1612 breast cancer treatment ISO RGD:69095 D RGD:7394824|PMID:2021547 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1724 duodenal ulcer ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12868675 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852150 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1793 pancreatic cancer ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23992306 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:2325015|PMID:18787407 20100519 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:2325018|PMID:16933058 20100519 RGD protein:increased expression:serum 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:182 calcinosis ISO RGD:69095 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1826 epilepsy ISO RGD:69095 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1875 impotence IEP D RGD:14995446|PMID:27051243 20191024 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:1875 impotence IEP D RGD:2306738|PMID:18778311 20090504 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2048 autoimmune hepatitis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:219 colon cancer treatment IEP D RGD:127229954|PMID:33360052 20210607 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2224 essential thrombocythemia ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:69095 D RGD:1601550|PMID:10973241 20070424 RGD Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2316 brain ischemia IEP D RGD:2302105|PMID:14997937 20081119 RGD mRNA:increased expression:brain 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:69095 D RGD:13432089|PMID:9019169 20170919 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2340 craniosynostosis ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2349 arteriosclerosis ISO RGD:69095 D RGD:1580959|PMID:16733295 20070424 RGD protein:increased expression:aorta 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2615 papilloma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2615 papilloma disease_progression ISO RGD:69096 D RGD:7394796|PMID:7954410 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma IEP D RGD:4145280|PMID:18366906 19990101 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:19138248 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:4143443|PMID:18711258 20101027 RGD DNA:polymorphism: :-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:4145139|PMID:19317336 20101026 RGD protein:increased expression:serum 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:4145142|PMID:19046298 20101026 RGD DNA:SNP:cds:915G>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:4145143|PMID:19096005 20101026 RGD DNA:SNPs:promoter, exon:multiple (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:4145299|PMID:19222424 20101029 RGD DNA:polymorphism: :-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69096 D RGD:4145113|PMID:20485865 20101025 RGD mRNA:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma ISO RGD:69096 D RGD:4145132|PMID:19620629 20101026 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:4145144|PMID:19136038 20101026 RGD DNA:polymorphisms: :multiple (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:4145297|PMID:19533439 20101029 RGD DNA:SNP:cds:915G>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2841 asthma onset ISO RGD:69095 D RGD:4145295|PMID:17673695 20101029 RGD DNA:SNP: :-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2945 severe acute respiratory syndrome IEP D RGD:32726073|PMID:16409721 20200701 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69095 D RGD:32716401|PMID:15271897 20200629 RGD protein:increased expression:serum (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11728950 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:299 adenocarcinoma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17418594 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3021 acute kidney failure ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10469268 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:305 carcinoma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12417722 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3082 interstitial lung disease ISO RGD:69095 D RGD:4145270|PMID:18846962 20101027 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3083 chronic obstructive pulmonary disease IMP D RGD:4145292|PMID:18269849 20101029 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:31349846 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69095 D RGD:4145140|PMID:19186046 20101026 RGD DNA:polymorphisms: :509C>T, 869T>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69095 D RGD:4145115|PMID:20193474 20101025 RGD DNA:SNP:exon:869T>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3227 tracheal stenosis susceptibility ISO RGD:69095 D RGD:4145116|PMID:20172396 20101025 RGD associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3310 atopic dermatitis ISO RGD:69095 D RGD:1331525|PMID:15118671 19990101 GAD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3310 atopic dermatitis ISO RGD:69095 D RGD:7394812|PMID:11496247 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3393 coronary artery disease ISO RGD:69095 D RGD:1331525|PMID:15118671 19990101 GAD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3407 carotid artery disease ISO RGD:69095 D RGD:1601556|PMID:17119348 20070424 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:69095 D RGD:155630628|PMID:8253361 20221026 RGD protein:decreased expression:pancreas (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:14995477|PMID:31409163 20191025 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:69096 D RGD:242905192|PMID:28630232 20230327 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69095 D RGD:2325019|PMID:16101174 20100519 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis IMP D RGD:2307220|PMID:19439069 20101026 RGD associated with Silicosis 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:15286001|PMID:16324872|PMID:16365456|PMID:17266442|PMID:19817698|PMID:24762191|PMID:26817844 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:4145279|PMID:18403781 20101027 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:30309204|PMID:31838832 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:4145112|PMID:20833968 20101025 RGD protein:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:4145133|PMID:19542246 20101026 RGD associated with Asthma 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3770 pulmonary fibrosis treatment IEP D RGD:14995444|PMID:26822530 20191024 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:3892 insulinoma ISO RGD:69095 D RGD:2325017|PMID:18058603 20100519 RGD mRNA, protein:decreased expression:pancreatic islet 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4236 carcinosarcoma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:11560966|PMID:26749573 20180131 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:13506175|PMID:25499257 20180131 RGD protein:increased expression:peripheral blood 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69095 D RGD:13506173|PMID:26631499 20180131 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4481 allergic rhinitis treatment IEP D RGD:14995445|PMID:31368266 20191024 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4483 rhinitis ISO RGD:69095 D RGD:4145277|PMID:18423831 20101027 RGD associated with Sinusitis 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4676 uremia ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4947 cholangiocarcinoma IEP D RGD:1299231|PMID:12632524 20100519 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:69095 D RGD:2325020|PMID:16083599 20100519 RGD protein:increased expression:pancreas 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4971 myelofibrosis ISO RGD:69095 D RGD:11073609|PMID:23462118 20160429 RGD protein:increased expression:plasma,bone marrow: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4971 myelofibrosis ISO RGD:69096 D RGD:11073609|PMID:23462118 20160429 RGD mRNA:increased expression:spleen,bone marrow: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4971 myelofibrosis treatment ISO RGD:69096 D RGD:11073609|PMID:23462118 20160429 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:7240710 20130221 OMIM 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:10973241|PMID:11062463|PMID:11278244|PMID:12843182|PMID:15103729|PMID:15326622|PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:19584867|PMID:20308061|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:21037076|PMID:35101388|PMID:36368619 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:14985228|PMID:30686515 20191014 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5199 ureteral obstruction ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:552 pneumonia ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:552 pneumonia ISO RGD:69096 D RGD:4145120|PMID:19965809 20101026 RGD protein:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:552 pneumonia severity ISO RGD:69095 D RGD:4145141|PMID:19181604 20101026 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:557 kidney disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11682445|PMID:14675041|PMID:18390891 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:57 aortic valve insufficiency ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:576 proteinuria ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12937228 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:576 proteinuria ameliorates IMP D RGD:13446413|PMID:23249995 20171114 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:7394849|PMID:10680515 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5844 myocardial infarction IEP D RGD:11073666|PMID:27121011 20160502 RGD mRNA,protein:increased expression:heart: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5844 myocardial infarction ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16310260 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5844 myocardial infarction ISO RGD:69095 D RGD:1331525|PMID:15118671 19990101 GAD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69095 D RGD:1601560|PMID:16543493 20070424 RGD associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:585 nephrolithiasis treatment IEP D RGD:11073675|PMID:24712822 20160503 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:630 genetic disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:6432 pulmonary hypertension ISO RGD:69095 D RGD:4145138|PMID:19324949 20101026 RGD protein:increased expression:blood 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:6432 pulmonary hypertension onset ISO RGD:69095 D RGD:4145273|PMID:18496036 20101027 RGD DNA:SNPs: :multiple (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:674 cleft palate ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69096 D RGD:127285675|PMID:28100771 20210627 RGD mRNA:increased expression:liver (mouse) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:783 end stage renal disease IEP D RGD:7394838|PMID:10919844 20131105 RGD mRNA, protein:increased expression:kidney 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:783 end stage renal disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8398 osteoarthritis ISO RGD:69095 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8472 localized scleroderma ISO RGD:69095 D RGD:7394847|PMID:7510487 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:850 lung disease IEP D RGD:4145122|PMID:19941153 20101026 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:850 lung disease IEP D RGD:4145127|PMID:19639047 20101026 RGD Acute Lung Injury;mRNA, protein:increased expression:lung, plasma 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:850 lung disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:850 lung disease ISO RGD:69095 D RGD:4145276|PMID:18424453 20101027 RGD associated with Cystic Fibrosis;DNA:SNPs: :rs1800469, rs1982073, rs8179181 (human 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:850 lung disease severity ISO RGD:69095 D RGD:4144796|PMID:19466271 20101026 RGD associated with Cystic Fibrosis;DNA:SNP:exon:869T>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:69095 D RGD:13782079|PMID:29951173 20180820 RGD protein:increased expression:serum 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8616 Peyronie's disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14996430 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:874 bacterial pneumonia severity ISO RGD:69096 D RGD:38501102|PMID:25398094 20200818 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8866 actinic keratosis ISO RGD:69095 D RGD:7394827|PMID:9274625 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8893 psoriasis severity ISO RGD:69095 D RGD:7394851|PMID:15072741 20131105 RGD protein:increased expression:serum 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:11073600|PMID:24801815 20160428 RGD protein:decreased expression:plasma: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:11073603|PMID:24763013 20160429 RGD mRNA:increased expression: : 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:69095 D RGD:11073598|PMID:11886393 20160428 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:90 degenerative disc disease ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21351055 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:69095 D RGD:2317641|PMID:18571008 20100519 RGD DNA:polymorphism: : -509C>T (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2302103|PMID:15145083 20081119 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000784 Fibrosis IMP D RGD:11073665|PMID:26923362 20160502 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:10469268|PMID:16306446|PMID:17947678|PMID:18705752|PMID:24142982|PMID:26054450|PMID:27870162|PMID:30809271 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:737732|PMID:9389733 19990101 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:7394820|PMID:2054795 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69095 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:23146760|PMID:23992306|PMID:26896736|PMID:31381904 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001074 Posterior Leukoencephalopathy Syndrome ISO RGD:69095 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:4145277|PMID:18423831 20101027 RGD associated with Rhinitis 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:7394830|PMID:12761968 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:7394852|PMID:23406597 20131105 RGD mRNA:decreased expression:nasal cavity epithelium 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1601595|PMID:16009107 20081117 RGD protein:increased expression:liver 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69095 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12586293|PMID:15772939|PMID:16579972|PMID:26806094|PMID:27605418 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69096 D RGD:39939037|PMID:28465467 20201022 RGD mRNA:increased expression:liver (mouse) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis onset IEP D RGD:14985234|PMID:30243650 20191014 RGD associated with extrahepatic cholestasis 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:14985231|PMID:30092114 20191014 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:14985232|PMID:28390311 20191014 RGD associated with Chemical and Drug Induced Liver Injury 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:14995475|PMID:27528511 20191025 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69095 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001600 Wounds and Injuries IEP D RGD:2292211|PMID:12533868 20080415 RGD protein:increased expression:skin 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9001600 Wounds and Injuries IMP D RGD:2302090|PMID:17117936 20081118 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:19960420 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69096 D RGD:2306734|PMID:19211686 20090504 RGD mRNA:increased expression:glomerulus 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002165 Diabetic Nephropathies treatment IEP D RGD:7394855|PMID:24074026 20131105 RGD associated with Diabetes Mellitus, Experimental 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002221 Hyperplasia ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:69095 D RGD:1601551|PMID:17429295 20070424 RGD associated with Coronary Arteriosclerosis;protein:increased expression:plasma 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15159307|PMID:18082198 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:69095 D RGD:11041166|PMID:15907823 20160323 RGD protein:decreased expression:plasma: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:15036801|PMID:29763498 20191115 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199790 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002488 Peritoneal Fibrosis treatment IEP D RGD:14985233|PMID:28190234 20191014 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002498 Wallerian Degeneration IEP D RGD:2302105|PMID:14997937 20081119 RGD mRNA:increased expression:optic (II) nerve, sciatic nerve 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:69095 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2302088|PMID:17204936 20081118 RGD mRNA, protein:increased expression:central nervous system 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:11073667|PMID:27108788 20160502 RGD protein:increased expression:heart: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003139 Cardiac Fibrosis IEP D RGD:156430318|PMID:27318893 20230224 RGD protein:increased expression:blood serum (rat) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69096 D RGD:11073617|PMID:22134166 20160429 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:69096 D RGD:242905189|PMID:33236535 20230327 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:69095 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:69095 D RGD:11554173 20200512 CTD CTD Direct Evidence: therapeutic PMID:11594583 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9003936 Cardiomegaly IEP D RGD:1581939|PMID:15542404 20140321 RGD mRNA, protein:increased expression:heart 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004018 Paraquat Lung ISO RGD:69095 D RGD:11073678|PMID:24535699 20160503 RGD mRNA,protein:increased expression:lung,serum: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:69095 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis IEP D RGD:1304308|PMID:15007308 20180404 RGD mRNA:increased expression:kidney 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates IMP D RGD:13446413|PMID:23249995 20171114 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:69095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8148055 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004484 Sepsis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69095 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:23992306|PMID:24727557|PMID:24793912|PMID:25884904|PMID:26896736|PMID:32745479 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16100012 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:69096 D RGD:39939031|PMID:25278421 20201021 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10750555 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11074608|PMID:11641043|PMID:17418594 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69096 D RGD:7394797|PMID:8466857 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005369 Hepatomegaly ISO RGD:69095 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005372 Inflammation ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19138248|PMID:20172950 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005463 Occupational Diseases ISO RGD:69095 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1601583|PMID:15855808 20070425 RGD protein:increased expression:urine 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17177138|PMID:23090186 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005729 Chronic Experimental Pancreatitis IEP D RGD:14995470|PMID:26645248 20191025 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9005968 Neuralgia treatment IEP D RGD:11073677|PMID:24979268 20160503 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:1601553|PMID:17213961 20070424 RGD protein:increased expression:pulmonary artery 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9006392 Anetoderma ISO RGD:69095 D RGD:7394827|PMID:9274625 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9006646 Metabolic Syndrome IEP D RGD:2306739|PMID:18692559 20090504 RGD mRNA:increased expression:left heart ventricle 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007096 Stroke ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007332 Progressive Diaphyseal Dysplasia 1 ISO RGD:69095 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007346 Cachexia ISO RGD:69095 D RGD:7394820|PMID:2054795 20131105 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69096 D RGD:14995464|PMID:27516150 20191025 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007480 Hyperoxia IEP D RGD:4145291|PMID:18353229 20101029 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69095 D RGD:4145293|PMID:18245268 20101029 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69096 D RGD:4145114|PMID:20220550 20101025 RGD protein:decreased activity:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:69096 D RGD:242905211|PMID:32084395 20230329 RGD associated with obesity 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:12903950|PMID:22913380 20170511 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:69095 D RGD:14995436|PMID:28700046 20191024 RGD DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:69095 D RGD:14995436|PMID:28700046 20191024 RGD DNA:SNPs:promoter:-509C>T (rs1800469) (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008604 Radiation Pneumonitis IMP D RGD:4145278|PMID:18411002 20101027 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69095 D RGD:4145121|PMID:19943923 20101026 RGD protein:increased expression:blood 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69095 D RGD:4145136|PMID:19380441 20101026 RGD DNA:SNP:exon:869T>C (rs1982073) (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9009073 Diaphragmatic Hernia IEP D RGD:4145129|PMID:19635314 20101026 RGD protein:increased expression:lung 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:7240710 20190315 OMIM 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532|PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9256 colorectal cancer ISO RGD:69095 D RGD:13432088|PMID:12778073 20170919 RGD protein:decreased expression:plasma 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69095 D RGD:13432086|PMID:15057430 20170919 RGD 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9351 diabetes mellitus ISO RGD:69095 D RGD:152975631|PMID:27411924 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:11073674|PMID:24613393 20160503 RGD mRNA,protein:increased expression:heart: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:2306740|PMID:18646321 20090504 RGD protein:increased expression:urine 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:936 brain disease ISO RGD:69095 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:936 brain disease ISO RGD:69095 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:29483653 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9538 multiple myeloma ISO RGD:69095 D RGD:11073614|PMID:22560388 20160429 RGD protein:decreased expression:serum: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:69095 D RGD:11073605|PMID:23699600 20160429 RGD DNA:hypermethylation:: 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9663 aphthous stomatitis ISO RGD:69095 D RGD:14975145|PMID:27266194 20191001 RGD DNA:SNP:promoter:-509T>C (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9675 pulmonary emphysema ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12634787 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9675 pulmonary emphysema severity ISO RGD:69095 D RGD:4145272|PMID:18670143 20101027 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9743 diabetic neuropathy IEP D RGD:2302086|PMID:18406405 20081118 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9743 diabetic neuropathy ISO RGD:69095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69095 D RGD:2306737|PMID:18979373 20090504 RGD protein:increased expression:urine 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9970 obesity IEP D RGD:1601561|PMID:16477387 20070424 RGD protein:increased expression:platelet 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9970 obesity ISO RGD:69095 D RGD:1601579|PMID:15944724 20070425 RGD associated with hypertension;protein:increased expression:blood 69051 Tgfb1 transforming growth factor, beta 1 gene DOID:9970 obesity severity ISO RGD:69095 D RGD:1601563|PMID:16253647 20070424 RGD protein:increased expression:adipose tissue 69053 Lypd3 Ly6/Plaur domain containing 3 gene DOID:5419 schizophrenia ISO RGD:70834 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69053 Lypd3 Ly6/Plaur domain containing 3 gene DOID:630 genetic disease ISO RGD:70834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69056 Jak1 Janus kinase 1 gene DOID:0080162 lupus nephritis ISO RGD:69102 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 69056 Jak1 Janus kinase 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:69102 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 69056 Jak1 Janus kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:69102 D RGD:150524355|PMID:29121062 20211130 RGD DNA:frameshift mutations 69056 Jak1 Janus kinase 1 gene DOID:10534 stomach cancer ISO RGD:69102 D RGD:14975290|PMID:27049718 20211130 RGD DNA:SNP: :rs2230587A (human) 69056 Jak1 Janus kinase 1 gene DOID:10534 stomach cancer severity ISO RGD:69102 D RGD:150524355|PMID:29121062 20211130 RGD DNA:frameshift mutations 69056 Jak1 Janus kinase 1 gene DOID:1059 intellectual disability ISO RGD:69102 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 69056 Jak1 Janus kinase 1 gene DOID:11446 sciatic neuropathy IEP D RGD:150527842|PMID:32012267 20211202 RGD mRNA:increased expression:spinal cord 69056 Jak1 Janus kinase 1 gene DOID:1380 endometrial cancer severity ISO RGD:69102 D RGD:150524355|PMID:29121062 20211130 RGD DNA:frameshift mutations 69056 Jak1 Janus kinase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:19165138|PMID:10756075 20200203 RGD 69056 Jak1 Janus kinase 1 gene DOID:2394 ovarian cancer treatment ISO RGD:69102 D RGD:19165135|PMID:25319391 20200131 RGD 69056 Jak1 Janus kinase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:69102 D RGD:13838745|PMID:28677798 20190115 RGD mRNA:decreased expression:pancreatic ductal cell (human) 69056 Jak1 Janus kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69102 D RGD:150524360|PMID:28989534 20211130 RGD protein:increased phosphorylation:lung 69056 Jak1 Janus kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:69102 D RGD:13838743|PMID:29328487 20190115 RGD human cell line in a mouse model 69056 Jak1 Janus kinase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:69103 D RGD:19165137|PMID:27439782 20200203 RGD associated with Schistosomiasis Japonica 69056 Jak1 Janus kinase 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:69102 D RGD:18936996|PMID:18559588 20200127 RGD DNA:missense mutation: :c.1972G>T (p.V658F) (human) 69056 Jak1 Janus kinase 1 gene DOID:630 genetic disease ISO RGD:69102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20167706|PMID:25356970|PMID:28111307|PMID:28492532 69056 Jak1 Janus kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69102 D RGD:150524353|PMID:23788652 20211130 RGD 69056 Jak1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:18936995|PMID:26825585 20200127 RGD 69056 Jak1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:18936997|PMID:23333931 20200127 RGD associated with Diabetes Mellitus, Experimental 69056 Jak1 Janus kinase 1 gene DOID:8997 polycythemia vera ISO RGD:69102 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 69056 Jak1 Janus kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69102 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 69056 Jak1 Janus kinase 1 gene DOID:9002457 Experimental Arthritis treatment IMP D RGD:19165139|PMID:29452839 20200203 RGD 69056 Jak1 Janus kinase 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:20167706|PMID:21436584|PMID:21680795|PMID:22955920|PMID:25356970|PMID:28111307 69056 Jak1 Janus kinase 1 gene DOID:9002669 Hypoxia IEP D RGD:150527843|PMID:14703438 20211202 RGD mRNA, protein:increased expression:lung 69056 Jak1 Janus kinase 1 gene DOID:9005382 X-Linked Acute Leukemia ISO RGD:69102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukemia, acute, X-linked PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 69056 Jak1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:7240710 20200930 OMIM 69056 Jak1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immunde Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA PMID:20167706|PMID:24728327|PMID:25356970|PMID:25741868|PMID:28111307|PMID:28492532|PMID:32750333|PMID:35046931 69056 Jak1 Janus kinase 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment IEP D RGD:19165136|PMID:21369693 20200131 RGD 69056 Jak1 Janus kinase 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:69102 D RGD:19165132|PMID:22901011 20200131 RGD DNA:SNPs: :rs4244165, rs17127024 (human) 69056 Jak1 Janus kinase 1 gene DOID:9074 systemic lupus erythematosus ISS RGD:69103 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 69056 Jak1 Janus kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69102 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 69056 Jak1 Janus kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69102 D RGD:18936998|PMID:28539123 20200127 RGD DNA:frameshift mutations 69056 Jak1 Janus kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:69102 D RGD:150524355|PMID:29121062 20211130 RGD DNA:frameshift mutations 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:0050336 hypophosphatemia ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19898264 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:13580 cholestasis disease_progression IEP D RGD:13782189|PMID:29204052 20180828 RGD 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:182 calcinosis ISO RGD:69105 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:1826 epilepsy treatment IEP D RGD:13524859|PMID:28303499 20180501 RGD 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:2383 neonatal jaundice ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22371261 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:299 adenocarcinoma ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:3347 osteosarcoma ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:630 genetic disease ISO RGD:69105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:69105 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:29425287 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9005369 Hepatomegaly ISO RGD:69105 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:23607986|PMID:32320717|PMID:36030841 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69105 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19797606|PMID:28058446 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69105 D RGD:40902984|PMID:31490979 20201219 RGD associated with tuberculosis ;DNA:SNP,haplotypes:promoter: (rs3814055) (human) 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9007456 Female Infertility ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9206 Barrett's esophagus ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9351 diabetes mellitus ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9452 fatty liver disease ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25182422 69057 Nr1i2 nuclear receptor subfamily 1, group I, member 2 gene DOID:9970 obesity ISO RGD:69105 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 69058 Matk megakaryocyte-associated tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:69108 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69058 Matk megakaryocyte-associated tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:69108 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 69058 Matk megakaryocyte-associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:69108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69113 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:10283 prostate cancer ISO RGD:69113 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69113 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:630 genetic disease ISO RGD:69113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:69113 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28003426 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:69113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 69061 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69113 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21182459|PMID:31809757 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0050771 pheochromocytoma IAGP D RGD:619590|PMID:12036912 20201210 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0050773 paraganglioma IAGP D RGD:619590|PMID:12036912 20201210 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0050868 hepatocellular adenoma ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17620307 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0050908 myelodysplastic syndrome ISO RGD:69115 D RGD:10450601|PMID:9171997 20160119 RGD DNA:deletion: : 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:69115 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:7240710 20130221 OMIM 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:11986963|PMID:15026335|PMID:15607373|PMID:16199547|PMID:17030811|PMID:17372254|PMID:17519308|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20530095|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:23555276|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26829051|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:69115 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:10976 membranous glomerulonephritis treatment IEP D RGD:10045363|PMID:24583340 20150609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69115 D RGD:2293592|PMID:18334837 20080605 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69116 D RGD:2293595|PMID:18027869 20080605 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:11202 primary hyperparathyroidism ISO RGD:69115 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:21289244|PMID:25741868|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:28492532|PMID:30990521|PMID:3328816 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:11446 sciatic neuropathy IEP D RGD:10045367|PMID:21959983 20150609 RGD protein:decreased expression:sciatic nerve 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:1324 lung cancer disease_progression IEP D RGD:152998913|PMID:20512841 20220705 RGD protein:decreased expression:lung (rat) 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:2289652|PMID:18174243 20080605 RGD DNA:SNP 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:2293594|PMID:18030569 20080605 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:734746|PMID:12244302 19990101 RGD protein:increased localization:cytoplasm 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:1686 glaucoma IEP D RGD:2293623|PMID:16707124 20080610 RGD mRNA, protein:decreased expression:retina, Muller cell 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:169 neuroendocrine tumor ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185511 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:169 neuroendocrine tumor ISO RGD:69115 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Neuroendocrine neoplasm 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:1984 rectal benign neoplasm ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15525823 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:2154 nephroblastoma disease_progression ISO RGD:69115 D RGD:2293605|PMID:14760081 20080609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:2394 ovarian cancer ISO RGD:69115 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17372254|PMID:25741868|PMID:28492532 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:69115 D RGD:2293608|PMID:10886076 20080609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:2696 Leydig cell tumor ISO RGD:69116 D RGD:2293582|PMID:18310289 20080812 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:2293620|PMID:16787597 20080609 RGD protein:decreased expression:kidney 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3021 acute kidney failure IEP D RGD:2293624|PMID:16557226 20080610 RGD protein:decreased expression:kidney 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia IAGP D RGD:2293616|PMID:17030811 20210416 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia IAGP D RGD:619590|PMID:12036912 20201210 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia ISO RGD:69115 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:28492532 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia susceptibility IAGP D RGD:2293616|PMID:17030811 20080609 RGD DNA, protein:frameshift mutation, decreased expression 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3829 pituitary adenoma IAGP D RGD:619590|PMID:12036912 20201210 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69115 D RGD:13673920|PMID:9500468 20180709 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:4448 macular degeneration ISO RGD:69115 D RGD:10043353|PMID:20054800 20150522 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma ISO RGD:69115 D RGD:2293590|PMID:18425369 20080605 RGD mRNA, protein:increased expression:kidney 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69115 D RGD:2289127|PMID:17924468 20080605 RGD protein:decreased expression:kidney 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69115 D RGD:2293589|PMID:18495610 20080605 RGD protein:decreased expression:kidney 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210610 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:5409 lung small cell carcinoma ISO RGD:69115 D RGD:13673920|PMID:9500468 20180709 RGD protein:increased expression:lung 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction ISO RGD:69116 D RGD:10045366|PMID:22492676 20150609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction treatment IMP D RGD:10045366|PMID:22492676 20150609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:630 genetic disease ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:6432 pulmonary hypertension treatment IEP D RGD:10045357|PMID:22383500 20150609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:684 hepatocellular carcinoma ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:83 cataract IAGP D RGD:2293616|PMID:17030811 20210416 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:83 cataract IAGP D RGD:619590|PMID:12036912 20201210 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210510 RGD in KO rat 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:8469 influenza ISO RGD:69116 D RGD:155641261|PMID:20081832 20221107 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:8541 Sezary's disease ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:8552 chronic myeloid leukemia ISO RGD:69115 D RGD:13673878|PMID:20200561 20180626 RGD Protein:increased expression:Blood, common myeloid progenitor, CD34-positive 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20932324 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:2299085|PMID:18691549 20080812 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:69115 D RGD:2293574|PMID:18301453 20080605 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000039 Spinal Cord Injuries IDA D RGD:2293615|PMID:18319192 20080609 RGD protein:decreased expression, altered localization:spinal cord, neuron, microglial cell 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:13673921|PMID:28601655 20180709 RGD associated with non-small cell lung carcinoma 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:2293607|PMID:12015771 20080609 RGD associated with Breast Neoplasms 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000189 Fallopian Tube Neoplasms ISO RGD:69115 D RGD:2299088|PMID:17927588 20080812 RGD protein:decreased expression:fallopian tube 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000217 Stomach Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000784 Fibrosis IEP D RGD:2293625|PMID:16137007 20080610 RGD protein:decreased expression:renal tubule 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9000998 Brain Injuries IEP D RGD:10045359|PMID:21728064 20150609 RGD protein:decreased expression:cerebral cortex 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9001341 Chloracne ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9001586 Experimental Liver Neoplasms disease_progression IEP D RGD:2315050|PMID:19533683 20220706 RGD mRNA:increased expression:liver (rat) 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2293619|PMID:16805985 20080609 RGD protein:increased expression:kidney 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2293628|PMID:15698433 20080610 RGD mRNA, protein:increased expression:kidney, glomerulus 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002234 Pituitary Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002245 Intestinal Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24185511 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002265 Kidney Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69115 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12727815|PMID:20932324|PMID:29610475 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69116 D RGD:2293596|PMID:18006855 20080605 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:69115 D RGD:2293591|PMID:18415709 20080605 RGD protein:decreased expression:prostate gland 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002704 Leukoencephalopathies treatment IDA D RGD:10045369|PMID:24322053 20150609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69116 D RGD:2293610|PMID:11376116 20080609 RGD protein:decreased expression:ovary 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:69115 D RGD:2299089|PMID:15701850 20080812 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69115 D RGD:2293574|PMID:18301453 20080605 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9003566 Mesothelioma ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18301454 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9004009 Reperfusion Injury IEP D RGD:2293627|PMID:15799773 20080610 RGD protein:increased expression:skeletal muscle 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9004207 Testicular Neoplasms ISO RGD:69116 D RGD:2293610|PMID:11376116 20080609 RGD protein:decreased expression:testis 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69115 D RGD:2299091|PMID:17985331 20080812 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9004268 Uterine Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2293630|PMID:9321826 20080610 RGD protein:decreased expression:heart 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9005172 Lung Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:16391232|PMID:20512841 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:2293626|PMID:15844214 20080610 RGD protein:increased expression:mammary gland 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:10045559|PMID:22651929 20150610 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9005539 Familial Prostate Cancer ISO RGD:69115 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69115 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15026335|PMID:15607373|PMID:17030811|PMID:17372254|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9007188 Liver Neoplasms ISO RGD:69115 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9007715 Endometrial Neoplasms ISO RGD:69115 D RGD:2299090|PMID:15188025 20080812 RGD protein:decreased expression:endometrium 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9008114 Helicobacter Infections ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9008939 Breast Neoplasms ISO RGD:69115 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17092400 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9119 acute myeloid leukemia ISO RGD:69115 D RGD:10450601|PMID:9171997 20160119 RGD DNA:deletion: : 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9669 senile cataract ISO RGD:69115 D RGD:10045354|PMID:21501079 20150609 RGD 69062 Cdkn1b cyclin-dependent kinase inhibitor 1B gene DOID:9970 obesity IEP D RGD:10045356|PMID:23357529 20150609 RGD protein:decreased expression:liver 69063 Atrn attractin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:69117 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 69063 Atrn attractin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:69117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 69063 Atrn attractin gene DOID:630 genetic disease ISO RGD:69117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69063 Atrn attractin gene DOID:9000495 Tremor IAGP D RGD:1299186|PMID:12379762 20070731 RGD DNA:deletion:exon 69063 Atrn attractin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69063 Atrn attractin gene DOID:9002955 Nerve Degeneration ISO RGD:69117 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:16860906 69063 Atrn attractin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:69117 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 69063 Atrn attractin gene DOID:9970 obesity ISO RGD:69118 D RGD:734623|PMID:10086355 19990101 RGD 69065 Pawr pro-apoptotic WT1 regulator gene DOID:10652 Alzheimer's disease ISO RGD:69120 D RGD:9835364|PMID:9701251 20150319 RGD mRNA,protein:increased expression:brain: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:11832 visual epilepsy IEP D RGD:9835366|PMID:10349840 20150319 RGD protein:increased expression:hippocampus: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:1470 major depressive disorder ISO RGD:69120 D RGD:9835359|PMID:20067857 20150319 RGD protein:decreased expression:brain: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:1596 depressive disorder IEP D RGD:6907449|PMID:21596067 20150320 RGD mRNA:decreased expression:striatum 69065 Pawr pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia IEP D RGD:1302269|PMID:14705148 20150320 RGD mRNA:increased expression:brain: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:737403 D RGD:9835381|PMID:11323519 20150323 RGD protein:increased expression:cortex,striatum: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:299 adenocarcinoma ISO RGD:69120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 69065 Pawr pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction IEP D RGD:9850083|PMID:19352052 20150326 RGD protein:increased expression:brain: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RDO:0007374 D RGD:9835380|PMID:16403464 20150323 RGD protein:increased expression:brain: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:737403 D RGD:9835381|PMID:11323519 20150323 RGD 69065 Pawr pro-apoptotic WT1 regulator gene DOID:4947 cholangiocarcinoma ISO RGD:69120 D RGD:9835357|PMID:20724592 20150319 RGD mRNA,protein:decreased expression:cholangiocyte: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:630 genetic disease ISO RGD:69120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9000998 Brain Injuries IEP D RGD:9835358|PMID:11421591 20150319 RGD mRNA,protein:increased expression:brain: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9002211 Hyperalgesia treatment IDA D RGD:9835416|PMID:17179954 20150325 RGD 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:69120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9004610 Acute Lung Injury IEP D RGD:9835397|PMID:17136598 20150324 RGD mRNA,protein:increased expression:lung,blood vessel: 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9007715 Endometrial Neoplasms ISO RGD:69120 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment IMP D RGD:9835369|PMID:18055876 20150320 RGD 69065 Pawr pro-apoptotic WT1 regulator gene DOID:9008091 Optic Nerve Injuries IEP D RGD:1299297|PMID:12836167 20150320 RGD mRNA:increased expression:retina: 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:1604061 D RGD:4891917|PMID:20847078 20110120 RGD mRNA:increased expression:faucial pillar, muscle (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0060319 cardiac arrest IEP D RGD:4889980|PMID:19756023 20101210 RGD protein:increased expression:hippocampus (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080208 non-alcoholic fatty liver disease disease_progression IEP D RGD:14995335|PMID:27639593 20191021 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080208 non-alcoholic fatty liver disease treatment IMP D RGD:14995335|PMID:27639593 20191021 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1604061 D RGD:14995335|PMID:27639593 20191021 RGD protein:increased expression:serum: 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1604061 D RGD:14995335|PMID:27639593 20191021 RGD protein:increased expression:serum: 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080600 COVID-19 severity ISO RGD:1604061 D RGD:30309200|PMID:32427582 20200618 RGD protein:increased expression:serum (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:1604061 D RGD:4892021|PMID:19996575 20110127 RGD protein:increased secretion:lung, secretion (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:10247 pleurisy ISO RGD:69127 D RGD:4890016|PMID:18672096 20101213 RGD protein:increased secretion:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:10534 stomach cancer disease_progression ISO RGD:1604061 D RGD:151893464|PMID:29069277 20220420 RGD mRNA:altered expression:stomach, tumor (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:10591 pre-eclampsia IEP D RGD:2317272|PMID:19617880 20101210 RGD protein:increased secretion:serum (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:10603 glucose intolerance ISO RGD:1604061 D RGD:2307103|PMID:16306328 20090518 RGD protein:increased secretion:serum (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:10652 Alzheimer's disease ISO RGD:1604061 D RGD:4890025|PMID:18440671 20101214 RGD mRNA:increased expression:cerebrum, blood vessels (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:10763 hypertension ISO RGD:1604061 D RGD:2307105|PMID:15668187 20090518 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:11204 allergic conjunctivitis IEP D RGD:2307196|PMID:12682842 20090520 RGD mRNA:increased expression:conjunctiva 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:11446 sciatic neuropathy IEP D RGD:4890004|PMID:19152028 20101213 RGD mRNA:increased expression:sciatic nerve (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12140 Chagas disease IMP D RGD:4889906|PMID:20452453 20101210 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12126966 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:14995336|PMID:15770052 20191021 RGD mRNA:increased expression:liver: 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:14995304|PMID:31258651 20191018 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12375 bronchopneumonia ISO RGD:1604061 D RGD:4892019|PMID:20350425 20110127 RGD protein:increased secretion:serum (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:12574 posterior uveitis IEP D RGD:4889998|PMID:19232006 20101213 RGD mRNA:increased expression:aqueous humor, vitreous body (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69127 D RGD:4891880|PMID:19124761 20110119 RGD protein:altered expression:lung, T cell (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:13141 uveitis IEP D RGD:2306302|PMID:19104678 20090518 RGD mRNA, protein:increased expression:conjunctiva, ciliary body 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69127 D RGD:4891914|PMID:18717637 20110120 RGD protein:increased secretion:lung, secretion (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1604061 D RGD:4891436|PMID:10384061 20110113 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:13976 peptic esophagitis IEP D RGD:2307110|PMID:18222984 20090519 RGD associated with Asthma;mRNA:increased expression:esophagus 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:1790 malignant mesothelioma ISO RGD:1604061 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:1793 pancreatic cancer ISO RGD:69127 D RGD:2317567|PMID:19155524 20100409 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1604061 D RGD:14401735|PMID:27304910 20190520 RGD associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1604061 D RGD:14995327|PMID:19017985 20191021 RGD DNA:polymorphisms: : 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:69127 D RGD:14401739|PMID:30536991 20190520 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1604061 D RGD:14995330|PMID:22576913 20191021 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1604061 D RGD:14995331|PMID:23336202 20191021 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2048 autoimmune hepatitis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis IEP D RGD:2307165|PMID:16259780 20090520 RGD protein:increased expression:plasma 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:4890030|PMID:14656931 20101214 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:4891452|PMID:19752857 20110113 RGD protein:increased secretion:serum (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2377 multiple sclerosis ISO RGD:1604061 D RGD:4890028|PMID:11091283 20101214 RGD mRNA:increased expression:brain, frontal cortex (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2518 orchitis IDA D RGD:704384|PMID:11897701 19990101 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans IEP D RGD:4889978|PMID:19840961 20101210 RGD mRNA:increased expression:lung (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans IMP D RGD:2307195|PMID:14611812 20090520 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma IEP D RGD:2307112|PMID:18208670 20090519 RGD protein:increased expression:smooth muscle cell 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8534483 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69127 D RGD:4891430|PMID:20092989 20110113 RGD protein:increased expression:lung, secretion (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma susceptibility ISO RGD:1604061 D RGD:4891381|PMID:20430255 20110112 RGD DNA:transition:5' utr:-403G>A (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:289 endometriosis IEP D RGD:2307108|PMID:18595729 20090518 RGD mRNA:increased expression:endometrium (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2921 glomerulonephritis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1604061 D RGD:34201108|PMID:15888207 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:30309221|PMID:15356152 20200619 RGD mRNA, protein: increased expression, altered expression:lung, brain (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:30309218|PMID:16195357 20200619 RGD protein:increased expression:plasma (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:4891448|PMID:19258635 20110113 RGD Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:69127 D RGD:30309207|PMID:32365944 20200618 RGD mRNA:increased expression:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1604061 D RGD:30309220|PMID:15781938 20200619 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1604061 D RGD:33769580|PMID:15865221 20200702 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:69127 D RGD:32716426|PMID:32553273 20200630 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1604061 D RGD:4892112|PMID:15128813 20110204 RGD mRNA:increased expression:lung (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1604061 D RGD:4891879|PMID:19335954 20110119 RGD DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1604061 D RGD:4891911|PMID:18790652 20110120 RGD protein:increased expression:breast, ductal carcinoma (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3021 acute kidney failure ISO RGD:69127 D RGD:4889990|PMID:19508392 20101213 RGD protein:increased secretion:serum (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3042 allergic contact dermatitis ISO RGD:69127 D RGD:1626251|PMID:15491423 20070727 RGD protein:increased expression:ear (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3082 interstitial lung disease ISO RGD:69127 D RGD:4891431|PMID:20089076 20110113 RGD mRNA:increased expression:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604061 D RGD:4891477|PMID:19703829 20110117 RGD mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3310 atopic dermatitis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1604061 D RGD:4891476|PMID:19729668 20110117 RGD protein:increased secretion:lung, alveolar macrophage (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:69127 D RGD:4145112|PMID:20833968 20110112 RGD protein:increased expression:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:2307059|PMID:17898087 20090519 RGD mRNA:increased expression:glomerulus 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis IEP D RGD:2307146|PMID:16843865 20090519 RGD protein:increased expression:pancreas (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:1604061 D RGD:2317568|PMID:16614115 20100409 RGD associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:14995306|PMID:28011329 20191018 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:14995328|PMID:20978355 20191021 RGD DNA:SNAP, haplotype: :rs11652536(human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis treatment ISO RGD:69127 D RGD:14995306|PMID:28011329 20191018 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:69127 D RGD:4890012|PMID:19050296 20101213 RGD mRNA:increased expression:sciatic nerve (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:7240710 20230505 OMIM 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by PMID:10200305|PMID:12114533|PMID:12610055 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:5434 scrapie ISO RGD:69127 D RGD:13782158|PMID:22787236 20180824 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:557 kidney disease IMP D RGD:2307176|PMID:15882261 20090520 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:5844 myocardial infarction IEP D RGD:4890013|PMID:18954648 20101213 RGD mRNA:increased expression:heart (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:630 genetic disease ISO RGD:1604061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604061 D RGD:4891440|PMID:19932032 20110113 RGD protein:increased secretion:serum (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:14995333|PMID:22374185 20191021 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:14995338|PMID:21610221 20191021 RGD associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:69127 D RGD:14995306|PMID:28011329 20191018 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:783 end stage renal disease IEP D RGD:4889989|PMID:19535570 20101213 RGD mRNA:increased expression:kidney cortex (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1604061 D RGD:4891436|PMID:10384061 20110113 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69127 D RGD:4891434|PMID:16387809 20110113 RGD protein:increased secretion:lung, secretion (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:850 lung disease IEP D RGD:2307141|PMID:17304115 20090519 RGD mRNA:increased expression:lung 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:8704 genital herpes ISO RGD:69127 D RGD:4890015|PMID:12502811 20101213 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy ISO RGD:1604061 D RGD:2307061|PMID:18978347 20090515 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604061 D RGD:2307104|PMID:16249511 20090518 RGD protein:increased expression:serum 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69127 D RGD:4889905|PMID:20478301 20101210 RGD mRNA:increased expression:spinal cord segment (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000641 Pain IMP D RGD:2306307|PMID:11438578 20090416 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:69127 D RGD:14995455|PMID:15692764 20191024 RGD associated with Animal Mammary Neoplasms; 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000972 Fever IDA D RGD:2307192|PMID:15066130 20090520 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza ISO RGD:69127 D RGD:4145452|PMID:20656925 20110112 RGD protein:increased expression:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza susceptibility ISO RGD:69127 D RGD:4892131|PMID:16208318 20110208 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69127 D RGD:14995328|PMID:20978355 20191021 RGD mRNA,protein:increased expression:liver 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:69127 D RGD:14995329|PMID:25617348 20191021 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:69127 D RGD:14995328|PMID:20978355 20191021 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69127 D RGD:14995337|PMID:22574195 20191021 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002106 Pneumococcal Pneumonia susceptibility ISO RGD:69127 D RGD:4892130|PMID:16455992 20110208 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:69127 D RGD:14995305|PMID:28623253 20191018 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69127 D RGD:14995305|PMID:28623253 20191018 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604061 D RGD:2307063|PMID:18326229 20090515 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1604061 D RGD:2307107|PMID:12610055 20090518 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia IDA D RGD:2303121|PMID:18656466 20090203 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia IEP D RGD:4890034|PMID:18076762 20101214 RGD mRNA:increased expression:dorsal root ganglion (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis IEP D RGD:2307143|PMID:17052673 20090519 RGD mRNA, protein:increased expression:synovium, monocytes 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis IMP D RGD:4889940|PMID:9637726 20101210 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69127 D RGD:4891397|PMID:20400704 20110112 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2307114|PMID:17666800 20090519 RGD mRNA:increased expression:spinal cord 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69127 D RGD:4890027|PMID:15833367 20101214 RGD protein:increased expression:brain (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002834 Herpesviridae Infections ISO RGD:69127 D RGD:4891912|PMID:18768196 20110120 RGD mRNA:increased expression:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002850 Immediate Hypersensitivity IEP D RGD:2307177|PMID:15823807 20090520 RGD mRNA:increased expression:nasal cavity epithelium 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:1604061 D RGD:2307065|PMID:17924206 20090515 RGD associated with Pregnancy in Diabetics;protein:decreased expression:serum 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9003671 Hypoventilation ISO RGD:1604061 D RGD:4892041|PMID:19701463 20110128 RGD associated with Obesity; protein:increased secretion:serum (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury IEP D RGD:2307184|PMID:15542513 20090520 RGD protein:increased expression:gut 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69127 D RGD:4891479|PMID:19558673 20110117 RGD protein:increased secretion:lung, secretion (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1604061 D RGD:14995336|PMID:15770052 20191021 RGD mRNA:increased expression:liver: 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1604061 D RGD:14995334|PMID:29703961 20191021 RGD DNA:SNP: :rs3817656(human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1604061 D RGD:14995332|PMID:12557141 20191021 RGD DNA:polymorphism:promoter:-403G>A(human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1604061 D RGD:14995340|PMID:15368437 20191021 RGD DNA:SNPs,haplotype: : 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004484 Sepsis IEP D RGD:4890036|PMID:18290317 20101214 RGD protein:increased secretion:plasma (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985009 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004590 Acute Liver Failure ISO RGD:1604061 D RGD:14995451|PMID:12579535 20191024 RGD protein, mRNA:increased expression:liver 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004659 Respiration Disorders ISO RGD:69127 D RGD:4891446|PMID:19906920 20110113 RGD Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria IEP D RGD:2307164|PMID:16284884 20090520 RGD protein:increased expression:renal tubule, epithelial cell (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:1604061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005106 Animal Toxoplasmosis IEP D RGD:2307183|PMID:15710456 20090520 RGD mRNA, protein:increased expression:blood vessel endothelial cell 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation IEP D RGD:2307142|PMID:17164972 20090519 RGD mRNA, protein:increased expression:subcutaneous tissue, granuloma (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69127 D RGD:4891481|PMID:19486528 20110117 RGD protein:increased secretion:lung, secretion (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005930 Endotoxemia IEP D RGD:2307171|PMID:16215387 20090520 RGD protein:increased expression:plasma 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1604061 D RGD:4891916|PMID:18513272 20110120 RGD protein:increased secretion:lung, secretion (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006618 Liver Metastasis treatment ISO RGD:69127 D RGD:14995455|PMID:15692764 20191024 RGD associated with Animal Mammary Neoplasms; 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006646 Metabolic Syndrome IEP D RGD:4889977|PMID:19905967 20101210 RGD protein:increased secretion:plasma (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1604061 D RGD:4891884|PMID:19005677 20110119 RGD protein:increased secretion:serum (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1604061 D RGD:4891881|PMID:19099677 20110119 RGD DNA:snp:5' utr:g.-28C>G (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007090 Experimental Seizures IEP D RGD:4889880|PMID:20940264 20101209 RGD protein:increased expression:hippocampus, vasculature (rat) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1604061 D RGD:4891406|PMID:20182399 20110112 RGD protein:increased expression:nasal mucus (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:69127 D RGD:4891951|PMID:20720199 20110124 RGD protein:increased expression:lung, secretion (mouse) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69127 D RGD:32733623|PMID:27175332 20200701 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1604061 D RGD:4891379|PMID:20459697 20110112 RGD protein:increased expression:inferior turbinate, epithelium (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008113 Tissue Adhesions IMP D RGD:4890014|PMID:18707039 20101213 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1604061 D RGD:14995339|PMID:17711627 20191021 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69127 D RGD:4891915|PMID:18708360 20110120 RGD 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9351 diabetes mellitus ISO RGD:1604061 D RGD:2307062|PMID:18385799 20090515 RGD protein:increased expression:serum 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604061 D RGD:2307064|PMID:17966842 20090515 RGD protein:increased expression:serum 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9452 fatty liver disease ISO RGD:1604061 D RGD:14995306|PMID:28011329 20191018 RGD mRNA:increased expression:liver 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9452 fatty liver disease ISO RGD:69127 D RGD:14995306|PMID:28011329 20191018 RGD mRNA:increased expression:liver 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9743 diabetic neuropathy ISO RGD:1604061 D RGD:2307060|PMID:19276232 20090515 RGD associated with Diabetes Mellitus;protein:increased expression:serum 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1604061 D RGD:2307102|PMID:16855620 20090518 RGD DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) 69069 Ccl5 C-C motif chemokine ligand 5 gene DOID:9970 obesity IEP D RGD:2307038|PMID:18469848 20090515 RGD protein:increased expression:serum 69070 Cd82 Cd82 molecule gene DOID:10283 prostate cancer disease_progression ISO RGD:1604068 D RGD:2289404|PMID:12497033 20080201 RGD protein:decreased expression:prostate gland 69070 Cd82 Cd82 molecule gene DOID:1059 intellectual disability ISO RGD:1604068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69070 Cd82 Cd82 molecule gene DOID:10763 hypertension IEP D RGD:2289422|PMID:10321446 20080201 RGD mRNA:increased expression:thymus 69070 Cd82 Cd82 molecule gene DOID:11054 urinary bladder cancer ISO RGD:1604068 D RGD:2289391|PMID:17290345 20080131 RGD 69070 Cd82 Cd82 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604068 D RGD:2289401|PMID:14706010 20080201 RGD protein:decreased expression:urinary bladder 69070 Cd82 Cd82 molecule gene DOID:2394 ovarian cancer disease_progression IEP D RGD:2289405|PMID:12079303 20080201 RGD protein:altered localization, decreased expression:ovary 69070 Cd82 Cd82 molecule gene DOID:2671 transitional cell carcinoma ISO RGD:1604068 D RGD:2289390|PMID:17393117 20080131 RGD 69070 Cd82 Cd82 molecule gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1604068 D RGD:2289403|PMID:12684410 20080201 RGD 69070 Cd82 Cd82 molecule gene DOID:3459 breast carcinoma ISO RGD:1604068 D RGD:2289398|PMID:15958618 20080201 RGD protein:decreased expression:breast 69070 Cd82 Cd82 molecule gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1604068 D RGD:2289399|PMID:15642213 20080201 RGD protein:decreased expression:uterine cervix 69070 Cd82 Cd82 molecule gene DOID:630 genetic disease ISO RGD:1604068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69070 Cd82 Cd82 molecule gene DOID:9000965 Neoplasm Metastasis IEP D RGD:2289407|PMID:11275982 20080201 RGD associated with Carcinoma, Hepatocellular;mRNA:decreased expression 69070 Cd82 Cd82 molecule gene DOID:9000965 Neoplasm Metastasis IEP D RGD:68869|PMID:9831222 20080201 RGD associated with Prostatic Neoplasms;mRNA:decreased expression 69070 Cd82 Cd82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20075392 69070 Cd82 Cd82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:2289400|PMID:15592684 20080201 RGD associated with Carcinoma, Infiltrating Duct;mRNA:decreased expression:brain 69070 Cd82 Cd82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:2289402|PMID:12806379 20080201 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:bone 69070 Cd82 Cd82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:2289425|PMID:9254900 20080201 RGD associated with Prostatic Neoplasms;DNA:loss of heterozygosity 69070 Cd82 Cd82 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1604068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20075392 69070 Cd82 Cd82 molecule gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604068 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20075392 69070 Cd82 Cd82 molecule gene DOID:9007402 Gliosis IEP D RGD:2289406|PMID:15277499 20080201 RGD mRNA:increased expression:retina 6907054 WF.WKY-(D5Uwm67-D5Uwm98)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907057 WF.WKY-(D5Uwm76-D5Uwm61)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907059 WF.WKY-(D5Uwm76-D5Uwm98)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907061 WF.WKY-(D5Uwm67-D5Uwm78)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907063 WF.WKY-(D5Uwm76-D5Got18)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907076 WF.WKY-(D5Uwm78-D5Uwm98)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907078 WF.WKY-(D5Uwm95-D5Uwm98)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907080 WF.WKY-(D5Uwm67-D5Uwm81)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20121030 RGD DMBA induced 6907084 WF.WKY-(D5Uwm76-D5Uwm92)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090|XCO:0000675 D RGD:5684388|PMID:21205740 20200318 RGD 6907087 WF.WKY-(D5Uwm78-D5Uwm84)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907090 WF.WKY-(D5Uwm78-D5Uwm93)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907092 WF.WKY-(D5Uwm88-D5Uwm92)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907094 WF.WKY-(D5Uwm87-D5Uwm92)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907096 WF.WKY-(D5Uwm85-D5Uwm92)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907098 WF.WKY-(D5Uwm82-D5Uwm92)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907100 WF.WKY-(D5Uwm82-D5Uwm91)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907104 WF.WKY-(D5Uwm77-D5Uwm91)/Uwm strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000090 D RGD:5684388|PMID:21205740 20200318 RGD 6907110 Mcs28 Mammary carcinoma susceptibility QTL 28 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:5684388|PMID:21205740 20121030 RGD 6907115 Mcs29 Mammary carcinoma susceptibility QTL 29 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:5684388|PMID:21205740 20121030 RGD 69073 Mdk midkine gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:69142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 69073 Mdk midkine gene DOID:1059 intellectual disability ISO RGD:69142 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69073 Mdk midkine gene DOID:1790 malignant mesothelioma ISO RGD:69142 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 69073 Mdk midkine gene DOID:2030 anxiety disorder ISO RGD:69142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 69073 Mdk midkine gene DOID:2316 brain ischemia ISO RGD:69142 D RGD:1582476|PMID:12127679 20061110 RGD 69073 Mdk midkine gene DOID:289 endometriosis ISO RGD:69142 D RGD:1581202|PMID:15734764 19990101 RGD 69073 Mdk midkine gene DOID:3070 high grade glioma ISO RGD:69142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21233844 69073 Mdk midkine gene DOID:3454 brain infarction IDA D RGD:1582478|PMID:15450683 20061110 RGD 69073 Mdk midkine gene DOID:4248 coronary stenosis IDA D RGD:1299187|PMID:10683378 20061110 RGD 69073 Mdk midkine gene DOID:5419 schizophrenia ISS RGD:69143 D RGD:13592920 20180518 MouseDO OMIM:181500 69073 Mdk midkine gene DOID:5844 myocardial infarction IEP D RGD:1582488|PMID:9568069 20061110 RGD 69073 Mdk midkine gene DOID:630 genetic disease ISO RGD:69142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69073 Mdk midkine gene DOID:7148 rheumatoid arthritis ISO RGD:69143 D RGD:1581200|PMID:15146411 19990101 RGD 69073 Mdk midkine gene DOID:9002165 Diabetic Nephropathies ISO RGD:69142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17607302 69073 Mdk midkine gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:9831448|PMID:9814819 20161202 RGD 69073 Mdk midkine gene DOID:9004009 Reperfusion Injury ISO RGD:69143 D RGD:1582475|PMID:15780085 20061110 RGD 69073 Mdk midkine gene DOID:9008023 Memory Disorders ISO RGD:69142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 69073 Mdk midkine gene DOID:9008086 Developmental Disabilities ISO RGD:69142 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 6907363 Bp357 Blood pressure QTL 357 qtl DOID:10763 hypertension IDA D RGD:61058|PMID:9329963 20121031 RGD 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:69155 D RGD:2290436|PMID:14744773 20080312 RGD protein:increased expression:breast 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:0080600 COVID-19 ISO RGD:69155 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:1073 renal hypertension IEP D RGD:1302333|PMID:12923405 20080313 RGD protein:increased expression:kidney medulla 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:1380 endometrial cancer ISO RGD:69155 D RGD:2290435|PMID:15273280 20080312 RGD mRNA:decreased expression:endometrium 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:2154 nephroblastoma ISO RGD:69155 D RGD:2290439|PMID:11466614 20080312 RGD 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:69155 D RGD:2290420|PMID:12798711 20080312 RGD protein:increased expression:endometrium 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:69155 D RGD:2290414|PMID:17009974 20080312 RGD protein:increased expression:ovary 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:4362 cervical cancer disease_progression ISO RGD:69155 D RGD:2290434|PMID:15816637 20080312 RGD mRNA:increased expression:uterine cervix 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:4450 renal cell carcinoma ISO RGD:69155 D RGD:2290421|PMID:11576837 20080312 RGD mRNA:decreased expression:kidney 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:6000 congestive heart failure IEP D RGD:2290467|PMID:10773234 20080313 RGD protein:decreased expression:heart left ventricle 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:630 genetic disease ISO RGD:69155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:7693 abdominal aortic aneurysm IEP D RGD:1302825|PMID:15238617 20080313 RGD protein:decreased expression:aorta (rat) 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:69155 D RGD:2290433|PMID:16940965 20080312 RGD 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69155 D RGD:2290437|PMID:12828172 20080312 RGD associated with Breast Neoplasms;mRNA:increased expression:breast 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9001600 Wounds and Injuries IEP D RGD:2290470|PMID:10082471 20080313 RGD mRNA, protein:increased expression:carotid artery 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:2290433|PMID:16940965 20080312 RGD 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9002457 Experimental Arthritis IMP D RGD:2290463|PMID:12483743 20080313 RGD 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9003936 Cardiomegaly IEP D RGD:2290471|PMID:10067796 20080313 RGD 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9005605 Arteriovenous Fistula IEP D RGD:1642040|PMID:17398390 20080313 RGD protein:decreased expression:ileal vein 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2290461|PMID:12707244 20080313 RGD protein:increased expression:blood 69077 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:69155 D RGD:2290455|PMID:9190892 20080313 RGD 69079 Wnt7a Wnt family member 7A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69159 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 69079 Wnt7a Wnt family member 7A gene DOID:0060417 3p deletion syndrome ISO RGD:69159 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 69079 Wnt7a Wnt family member 7A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:69159 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 69079 Wnt7a Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:7240710 20131030 OMIM 69079 Wnt7a Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fuhrmann syndrome PMID:16826533|PMID:25741868|PMID:28492532|PMID:9128926 69079 Wnt7a Wnt family member 7A gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:69159 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 69079 Wnt7a Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:7240710 20130221 OMIM 69079 Wnt7a Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Schinzel phocomelia syndrome PMID:16826533|PMID:20949531|PMID:21271649|PMID:21344627|PMID:25741868 69079 Wnt7a Wnt family member 7A gene DOID:127 leiomyoma ISO RGD:69159 D RGD:2298847|PMID:11232041 20080728 RGD 69079 Wnt7a Wnt family member 7A gene DOID:630 genetic disease ISO RGD:69159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69079 Wnt7a Wnt family member 7A gene DOID:9002739 Female Urogenital Diseases ISO RGD:69159 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 69079 Wnt7a Wnt family member 7A gene DOID:9002762 Ovarian Neoplasms ISO RGD:69159 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 69079 Wnt7a Wnt family member 7A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69160 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 69079 Wnt7a Wnt family member 7A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69160 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line 69079 Wnt7a Wnt family member 7A gene DOID:9007150 Urogenital Neoplasms ISO RGD:69159 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15751030 69080 Nfix nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:7240710 20141015 OMIM 69080 Nfix nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:16086394|PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22301465|PMID:23495138|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25640679|PMID:25736188|PMID:25741868|PMID:26193383|PMID:26200704|PMID:26927468|PMID:27688808|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29184170|PMID:29897170|PMID:31036916|PMID:33767182|PMID:8910820|PMID:9536098|PMID:9717599 69080 Nfix nuclear factor I X gene DOID:0050990 episodic ataxia type 2 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 69080 Nfix nuclear factor I X gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 PMID:25741868 69080 Nfix nuclear factor I X gene DOID:0080833 laryngomalacia ISO RGD:69161 D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 69080 Nfix nuclear factor I X gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 69080 Nfix nuclear factor I X gene DOID:0111254 glutaric acidemia I ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 69080 Nfix nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:7240710 20140911 OMIM 69080 Nfix nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malan overgrowth syndrome PMID:20673863|PMID:20949508|PMID:22301465|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25590979|PMID:25741868|PMID:26193383|PMID:26633545|PMID:28475857|PMID:28492532|PMID:28708303|PMID:29897170|PMID:31036916|PMID:8910820 69080 Nfix nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 69080 Nfix nuclear factor I X gene DOID:13300 Scheuermann's disease ISS RGD:69162 D RGD:13592920 20180518 MouseDO OMIM:181440 69080 Nfix nuclear factor I X gene DOID:3413 alpha-mannosidosis ISO RGD:69161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 69080 Nfix nuclear factor I X gene DOID:630 genetic disease ISO RGD:69161 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28492532|PMID:29897170|PMID:33767182|PMID:8910820 69080 Nfix nuclear factor I X gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:69161 D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 69081 Rem2 RRAD and GEM like GTPase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 69081 Rem2 RRAD and GEM like GTPase 2 gene DOID:630 genetic disease ISO RGD:733550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69081 Rem2 RRAD and GEM like GTPase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733550 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 69081 Rem2 RRAD and GEM like GTPase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733550 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:69201 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:736283 D RGD:25671411|PMID:29710028 20200427 RGD protein:decreased expression:liver (mouse) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0080745 polymyositis ISO RGD:69201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0080883 vitamin D-dependent rickets ISO RGD:69201 D RGD:8554872 20201103 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:7240710 20130731 OMIM 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A PMID:10518789|PMID:10566658|PMID:11737215|PMID:12050193|PMID:17488797|PMID:18394115|PMID:20926527|PMID:21700898|PMID:22190362|PMID:22443290|PMID:22588163|PMID:23423976|PMID:23444327|PMID:23483640|PMID:24197768|PMID:25284246|PMID:25741868|PMID:27287609|PMID:28492532|PMID:30282619|PMID:31261480|PMID:35738466|PMID:9415400|PMID:9486994|PMID:9837822 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0080886 vitamin D-dependent rickets type 1A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:736283 D RGD:734871|PMID:11416220 19990101 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:10609 rickets ISO RGD:69201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16494812 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:10609 rickets ISO RGD:69201 D RGD:1600874|PMID:9486994 20070329 RGD vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:10609 rickets ISO RGD:736283 D RGD:734871|PMID:11416220 19990101 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:12678 hypercalcemia ISO RGD:69201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:13543 hyperparathyroidism ISO RGD:736283 D RGD:734871|PMID:11416220 19990101 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:2043 hepatitis B severity ISO RGD:69201 D RGD:25671410|PMID:22963605 20200427 RGD DNA:SNP:promoter: -1260C>A (rs10877012) (human) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:2527 nephrosis IDA D RGD:2307321|PMID:1328752 20090527 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:3021 acute kidney failure IDA D RGD:2307326|PMID:6223803 20090527 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:630 genetic disease ISO RGD:69201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20926527|PMID:25363760|PMID:25741868|PMID:28492532|PMID:9536098 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:6846 familial melanoma ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:893 Wilson disease IDA D RGD:2307322|PMID:3348368 20090527 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9002802 Acidoses IDA D RGD:2307324|PMID:6282936 20090527 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:69201 D RGD:25671413|PMID:21145801 20200427 RGD DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2307313|PMID:3295473 20090526 RGD 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:69201 D RGD:2307310|PMID:18476984 20090526 RGD associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736283 D RGD:25671412|PMID:26476181 20200427 RGD mRNA, protein:decreased expression:kidney (mouse) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9452 fatty liver disease ISO RGD:736283 D RGD:25671414|PMID:31175967 20200427 RGD mRNA:increased expression:liver (mouse) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:2307311|PMID:17606874 20090526 RGD DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:2307312|PMID:17223345 20090526 RGD DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) 69192 Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 gene DOID:9970 obesity susceptibility ISO RGD:69201 D RGD:2307312|PMID:17223345 20090526 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1605436 D RGD:11354899|PMID:16185271 20160728 RGD associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:1625056|PMID:8896559 20070517 RGD DNA:duplication:exon 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:7240710 20130425 OMIM 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:10971344|PMID:12442288|PMID:14510955|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:17576681|PMID:18326704|PMID:19334085|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:21833017|PMID:24033266|PMID:24583434|PMID:25741868|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30634918|PMID:31064749|PMID:31141302|PMID:32581362|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9536098|PMID:9562579|PMID:9705234 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1605436 D RGD:8554872 20220322 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis PMID:12442288|PMID:16185271|PMID:25741868|PMID:28492532 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:2223 platelet storage pool deficiency ISS RGD:69205 D RGD:13592920 20180518 MouseDO OMIM:185050 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12442288|PMID:14510955|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:19334085|PMID:19398212|PMID:19665357|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:23103514|PMID:24033266|PMID:25741868|PMID:26575419|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30387913|PMID:30985222|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579|PMID:9705234 69193 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:630 genetic disease ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12442288|PMID:16185271|PMID:20662851|PMID:24033266|PMID:25741868|PMID:27593200|PMID:28492532|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579 69194 Gphn gephyrin gene DOID:0050572 cone-rod dystrophy ISO RGD:69477 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858 69194 Gphn gephyrin gene DOID:0050817 Stargardt disease ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 69194 Gphn gephyrin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69477 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 69194 Gphn gephyrin gene DOID:0060695 hyperekplexia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kok disease PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 69194 Gphn gephyrin gene DOID:0060696 hyperekplexia 1 ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 69194 Gphn gephyrin gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:32014858|PMID:34001834 69194 Gphn gephyrin gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26868535|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:9536098 69194 Gphn gephyrin gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:25741868|PMID:28492532 69194 Gphn gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:7240710 20171011 OMIM 69194 Gphn gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C PMID:11095995|PMID:12684523|PMID:12754701|PMID:16199547|PMID:17576681|PMID:22040219|PMID:23184456|PMID:23393157|PMID:24561070|PMID:25640679|PMID:25741868|PMID:26613940|PMID:27652284|PMID:28492532|PMID:29948376|PMID:31780880|PMID:33532714|PMID:9536098 69194 Gphn gephyrin gene DOID:10283 prostate cancer ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69194 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 69194 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858|PMID:34448047 69194 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 69194 Gphn gephyrin gene DOID:1242 globe disease ISO RGD:69477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 69194 Gphn gephyrin gene DOID:13366 Stiff-Person syndrome ISO RGD:69477 D RGD:11554173 20191231 CTD CTD Direct Evidence: marker/mechanism 69194 Gphn gephyrin gene DOID:13366 Stiff-Person syndrome ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff-person syndrome, congenital PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 69194 Gphn gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31054281|PMID:31814694|PMID:32014858|PMID:32865313|PMID:9536098 69194 Gphn gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 69194 Gphn gephyrin gene DOID:1574 alcohol use disorder ISO RGD:69477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 69194 Gphn gephyrin gene DOID:1826 epilepsy ISO RGD:69477 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 69194 Gphn gephyrin gene DOID:1969 cerebral palsy ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 69194 Gphn gephyrin gene DOID:4448 macular degeneration ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834 69194 Gphn gephyrin gene DOID:5419 schizophrenia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 69194 Gphn gephyrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69477 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 69194 Gphn gephyrin gene DOID:630 genetic disease ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12684523|PMID:25741868|PMID:28492532|PMID:33156547|PMID:35445667 69194 Gphn gephyrin gene DOID:655 inherited metabolic disorder ISO RGD:69477 D RGD:1558665|PMID:12754701 20070511 RGD molybdenum cofactor deficiency, complementation group B, OMIM:252150 69194 Gphn gephyrin gene DOID:8501 fundus dystrophy ISO RGD:69477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:34001834|PMID:34448047|PMID:9536098 69194 Gphn gephyrin gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 69194 Gphn gephyrin gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 69194 Gphn gephyrin gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 69194 Gphn gephyrin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69477 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 69194 Gphn gephyrin gene DOID:9008296 Eye Abnormalities ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 69195 Nbr1 NBR1, autophagy cargo receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322877 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 69195 Nbr1 NBR1, autophagy cargo receptor gene DOID:630 genetic disease ISO RGD:1322877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69197 Slc16a10 solute carrier family 16 member 10 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731538 D RGD:151361149|PMID:33609949 20220224 RGD protein:increased expression:esophagus 69197 Slc16a10 solute carrier family 16 member 10 gene DOID:630 genetic disease ISO RGD:731538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69198 Rcan2 regulator of calcineurin 2 gene DOID:630 genetic disease ISO RGD:69211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0050741 alcohol dependence ISO RGD:69220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0060041 autism spectrum disorder ISO RGD:69220 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0060071 pre-malignant neoplasm ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69220 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease susceptibility ISO RGD:69220 D RGD:11536476|PMID:27214654 20191212 RGD DNA:missense mutation:cds: (rs671) (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:69218 D RGD:15036808|PMID:31026768 20191119 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:69218 D RGD:15042863|PMID:25392542 20191212 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080952 AMED syndrome ISO RGD:69220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:10652 Alzheimer's disease onset ISO RGD:69220 D RGD:1599042|PMID:15126281 20070112 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension no_association ISO RGD:69220 D RGD:1601163|PMID:12484509 20070409 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension susceptibility ISO RGD:69220 D RGD:1601164|PMID:11510748 20070409 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:114 heart disease IEP D RGD:7241590|PMID:20957334 20130312 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:heart: 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:12336 male infertility ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24448831 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:14696777|PMID:29779728 20190724 RGD DNA:missense mutation:cds:p.E504K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:15042858|PMID:11051375 20191212 RGD associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:15042864|PMID:23550892 20191212 RGD DNA:missense mutation:cds: (rs671) (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14330 Parkinson's disease ISO RGD:69220 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:24491970 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:734551|PMID:10780266 19990101 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:178 vascular disease ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:2325313|PMID:19068087 20100607 RGD DNA:polymorphism: :p.E504K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:2325694|PMID:15714130 20100607 RGD DNA:polymorphism (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:251 alcohol-induced mental disorder ISO RGD:69220 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26711020 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:2841 asthma ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9600491|PMID:11506308 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:2841 asthma ISO RGD:69220 D RGD:1331525|PMID:15118671 19990101 GAD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:3454 brain infarction susceptibility ISO RGD:69220 D RGD:1601161|PMID:17388993 20070409 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:3571 liver cancer ISO RGD:69218 D RGD:14696779|PMID:26150517 20190724 RGD DNA:missense mutation:cds:p.E487K (mouse) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69220 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:16639733|PMID:22960999 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:409 liver disease susceptibility ISO RGD:69220 D RGD:1601162|PMID:16408483 20070409 RGD associated with metabolic syndrome;DNA:polymorphism 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:4404 occupational dermatitis ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16758956 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:5041 esophageal cancer ISO RGD:69220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:5844 myocardial infarction ISO RGD:69220 D RGD:2311152|PMID:12452318 20090626 RGD DNA:missense mutation: :p.E487K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:630 genetic disease ISO RGD:69220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma no_association ISO RGD:69220 D RGD:15042859|PMID:10737710 20191212 RGD DNA:missense mutation:exon 12: (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma severity ISO RGD:69220 D RGD:15036809|PMID:28027570 20191119 RGD mRNA, protein:decreased expression:liver (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:11054822|PMID:25778454 20190724 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:cds:p.E487K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:14696699|PMID:1916152 20190724 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:14696778|PMID:12940444 20190724 RGD associated with hepatitis C:DNA:SNP:exon 12 (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:14696779|PMID:26150517 20190724 RGD protein:decreased expression: liver (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:14700899|PMID:29765251 20191119 RGD DNA:missense mutation:cds: (rs671) (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:15042857|PMID:26827895 20191212 RGD associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:15042862|PMID:18439068 20191212 RGD associated with alcohol use disorder;DNA:missense mutation:cds: (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9000117 Esophageal Neoplasms ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8850269 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:69220 D RGD:14981580|PMID:12198368 20191212 RGD DNA:polymorphism:exon 12: (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:69218 D RGD:11076022|PMID:26173414 20191212 RGD DNA:deletion:cds: (mouse) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:14696699|PMID:1916152 20190724 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:14696790|PMID:3189338 20190725 RGD DNA:polymorphism 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001583 Melanosis ISO RGD:69220 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:30721697 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:14975297|PMID:29589772 20191119 RGD protein:altered expression:liver (rat) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69218 D RGD:15036807|PMID:30671488 20191119 RGD protein:altered expression:liver (mouse) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9002661 Diabetes Complications ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23500772 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9004484 Sepsis treatment IEP D RGD:15036802|PMID:17607160 20191115 RGD associated with heat shock treatment;protein:altered expression, altered phosphorylation:liver, mitochondria (rat) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69218 D RGD:7241603|PMID:22022451 20130312 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006912 Acute Alcohol Sensitivity ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10627091 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006912 Acute Alcohol Sensitivity ISO RGD:69220 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alcohol sensitivity, acute | ClinVar Annotator: match by term: Susceptibility to hangover PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:25741868|PMID:28492532|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver IDA D RGD:1599041|PMID:17058263 20070112 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:69220 D RGD:15036811|PMID:25457208 20191119 RGD human transgene in mouse model 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:69220 D RGD:14696776|PMID:29063269 20190724 RGD DNA:missense mutation:cds:p.E504K (human) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:69218 D RGD:15036805|PMID:29156373 20191118 RGD protein:altered processing:liver (mouse) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007039 Ventricular Dysfunction ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23500772 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007102 Myocardial Ischemia IDA D RGD:7241592|PMID:18787169 20130312 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7241599|PMID:21138988 20130312 RGD protein:increased expression:liver 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:69218 D RGD:15036810|PMID:30121625 20191119 RGD DNA:deletion:exon 3 (mouse) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69218 D RGD:14975148|PMID:24492981 20191119 RGD DNA:deletion:exon 3 (mouse) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007588 Heart Injuries ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23500772 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007692 Insulin Resistance treatment IEP D RGD:14981582|PMID:28688179 20191212 RGD protein:altered expression, altered activity:liver (rat) 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007763 Flushing ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8903321 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:7241598|PMID:23468836 20130312 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9008443 Colorectal Neoplasms ISO RGD:69220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16332725 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9352 type 2 diabetes mellitus ISO RGD:69220 D RGD:2311149|PMID:15563966 20090626 RGD 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69220 D RGD:2311150|PMID:15318096 20090626 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent 69219 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9744 type 1 diabetes mellitus ISO RGD:69220 D RGD:2311151|PMID:12706323 20090626 RGD 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735595 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735595 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:735595 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:10283 prostate cancer ISO RGD:735595 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:11832 visual epilepsy ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:16235065|PMID:17765802|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23596459|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:12849 autistic disorder ISO RGD:735595 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:12849 autistic disorder ISO RGD:735595 D RGD:9686430|PMID:23596459 20150209 RGD DNA:missense mutation:cds:p.574S (rs74582884) (human) 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14264 benign neonatal seizures ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:32086284|PMID:32613771|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14264 benign neonatal seizures ISS RGD:735596 D RGD:13592920 20180518 MouseDO OMIM:121200 | OMIM:121201 | OMIM:269720 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:29383681|PMID:29852413|PMID:31440727 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18625963|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14534157|PMID:16235065|PMID:17576681|PMID:17765802|PMID:18354422|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25194482|PMID:25740509|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29778030|PMID:29808309|PMID:30348901|PMID:30578330|PMID:32086284|PMID:33004838|PMID:9536098 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9002211 Hyperalgesia IEP D RGD:9686417|PMID:23352759 20150206 RGD associated with Bone Neoplasms;protein:decreased expression:dorsal root ganglia (rat) 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:7240710 20130425 OMIM 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:10852552|PMID:14534157|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18425618|PMID:1859177|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31785789|PMID:32086284|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:9686418|PMID:9425900 20150206 RGD DNA:missense mutation:cds:p.G263V (human) 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:9686433|PMID:10852552 20150209 RGD DNA:missense mutation:cds:p.W309R (human) 69222 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9008582 Developmental Disease ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 69223 Sacm1l SAC1 like phosphatidylinositide phosphatase gene DOID:630 genetic disease ISO RGD:733012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69223 Sacm1l SAC1 like phosphatidylinositide phosphatase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 69224 Gpx3 glutathione peroxidase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1343858 D RGD:151665806|PMID:30469315 20220404 RGD mRNA:decreased expression:colorectum (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1343858 D RGD:151665806|PMID:30469315 20220404 RGD mRNA:decreased expression:colorectum (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69224 Gpx3 glutathione peroxidase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma treatment ISO RGD:1343858 D RGD:151708712|PMID:29496492 20220414 RGD associated with ethmoid sinus cancer and Neoplasm Metastasis 69224 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer ISO RGD:1343858 D RGD:9068941 20220825 RGD protein:decreased expression:stomach (human) PMID:20043075|REF_RGD_ID:151665486 69224 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 69224 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer onset ISO RGD:1343858 D RGD:151665514|PMID:30924352 20220330 RGD DNA:hypermethylation 69224 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer susceptibility ISO RGD:1343858 D RGD:151665489|PMID:20576521 20220324 RGD DNA:SNPs:intron 1,3'utr: (rs3805435, rs3828599, rs2070593) (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer treatment ISO RGD:1343858 D RGD:151665512|PMID:30114685 20220329 RGD 69224 Gpx3 glutathione peroxidase 3 gene DOID:1062 Fanconi syndrome ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9851889 69224 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:1625122|PMID:12824952 20070522 RGD protein:decreased expression:plasma 69224 Gpx3 glutathione peroxidase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 69224 Gpx3 glutathione peroxidase 3 gene DOID:1324 lung cancer treatment ISO RGD:1343858 D RGD:151708705|PMID:33255360 20220414 RGD 69224 Gpx3 glutathione peroxidase 3 gene DOID:1324 lung cancer treatment ISO RGD:1343858 D RGD:151708707|PMID:26767034 20220414 RGD 69224 Gpx3 glutathione peroxidase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21684681 69224 Gpx3 glutathione peroxidase 3 gene DOID:1993 rectum cancer susceptibility ISO RGD:1343858 D RGD:151665750|PMID:22371331 20220330 RGD DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:219 colon cancer disease_progression ISO RGD:737382 D RGD:151665510|PMID:23221387 20220328 RGD associated with Experimental Colitis 69224 Gpx3 glutathione peroxidase 3 gene DOID:2870 endometrial adenocarcinoma IEP D RGD:2312621|PMID:19426485 20090826 RGD mRNA:decreased expression:endometrium (rat) 69224 Gpx3 glutathione peroxidase 3 gene DOID:289 endometriosis ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 69224 Gpx3 glutathione peroxidase 3 gene DOID:299 adenocarcinoma ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 69224 Gpx3 glutathione peroxidase 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1343858 D RGD:151665494|PMID:30018730 20220325 RGD DNA:hypermethylation 69224 Gpx3 glutathione peroxidase 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1343858 D RGD:151665741|PMID:25050929 20220330 RGD DNA:hypermethylation 69224 Gpx3 glutathione peroxidase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343858 D RGD:151708716|PMID:23374247 20220414 RGD mRNA:decreased expression:lung (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1343858 D RGD:152995500|PMID:22715394 20220627 RGD DNA:SNPs:intron: (rs4958872, rs3792797) (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1343858 D RGD:151665515|PMID:24167362 20220329 RGD protein:decreased expression:gallbladder (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:5041 esophageal cancer treatment ISO RGD:1343858 D RGD:151665781|PMID:33292587 20220404 RGD DNA:hypermethylation 69224 Gpx3 glutathione peroxidase 3 gene DOID:630 genetic disease ISO RGD:1343858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69224 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:151665509|PMID:25445749 20220329 RGD DNA:hypermethylation 69224 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343858 D RGD:151665355|PMID:25333265 20220323 RGD mRNA,protein:decreased expression:liver, blood plasma (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:151665354|PMID:16229808 20220322 RGD DNA:hypermethylation 69224 Gpx3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:151665749|PMID:18664505 20220630 RGD DNA:hypermethylation:promoter 69224 Gpx3 glutathione peroxidase 3 gene DOID:850 lung disease IEP D RGD:2312626|PMID:16049373 20090826 RGD mRNA:decreased expression:pneumocyte (rat) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343858 D RGD:151665353|PMID:23071548 20220322 RGD associated with stomach carcinoma; DNA:hypermethylation:promoter 69224 Gpx3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343858 D RGD:2312635|PMID:17269729 20090826 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17804715 69224 Gpx3 glutathione peroxidase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:21552421 69224 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2312629|PMID:12753302 20090826 RGD 69224 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312629|PMID:12753302 20090826 RGD protein, mRNA:decreased expression:kidney (rat) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737382 D RGD:2312631|PMID:16651743 20090826 RGD mRNA:increased expression:heart (mouse) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69224 Gpx3 glutathione peroxidase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1343858 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 69224 Gpx3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 69224 Gpx3 glutathione peroxidase 3 gene DOID:9206 Barrett's esophagus ISO RGD:1343858 D RGD:151665749|PMID:18664505 20220630 RGD DNA:hypermethylation:promoter 69224 Gpx3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:2312632|PMID:18936159 20090826 RGD mRNA:decreased expression:skeletal muscle (mouse) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:2312633|PMID:18562625 20090826 RGD 69224 Gpx3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343858 D RGD:2312632|PMID:18936159 20090826 RGD protein:decreased expression:plasma (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343858 D RGD:2312634|PMID:16489975 20090826 RGD protein:decreased activity:plasma (human) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity IEP D RGD:2307430|PMID:19212806 20090826 RGD mRNA:decreased expression:adipose tissue (rat) 69224 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:1343858 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:19270708 69224 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:737382 D RGD:2312633|PMID:18562625 20090826 RGD protein:decreased expression, activity:plasma (mouse) 69225 Hgs hepatocyte growth factor-regulated tyrosine kinase substrate gene DOID:630 genetic disease ISO RGD:733649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69226 Gpx4 glutathione peroxidase 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736049 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 69226 Gpx4 glutathione peroxidase 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:736049 D RGD:152998895|PMID:18850177 20220630 RGD DNA:SNP:3' utr:c.718T>C (human) 69226 Gpx4 glutathione peroxidase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736049 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 69226 Gpx4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:7240710 20190315 OMIM 69226 Gpx4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type PMID:22529034|PMID:24706940|PMID:25741868|PMID:28492532 69226 Gpx4 glutathione peroxidase 4 gene DOID:10603 glucose intolerance ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 69226 Gpx4 glutathione peroxidase 4 gene DOID:11383 cryptorchidism ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 69226 Gpx4 glutathione peroxidase 4 gene DOID:12336 male infertility ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19417079|PMID:19744930 69226 Gpx4 glutathione peroxidase 4 gene DOID:219 colon cancer disease_progression ISO RGD:736049 D RGD:152995496|PMID:21868509 20220627 RGD mRNA, protein:increased expression:colon (human) 69226 Gpx4 glutathione peroxidase 4 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:736049 D RGD:152998894|PMID:27957666 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) 69226 Gpx4 glutathione peroxidase 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 69226 Gpx4 glutathione peroxidase 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:736049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 69226 Gpx4 glutathione peroxidase 4 gene DOID:6000 congestive heart failure ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 69226 Gpx4 glutathione peroxidase 4 gene DOID:630 genetic disease ISO RGD:736049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69226 Gpx4 glutathione peroxidase 4 gene DOID:9000784 Fibrosis ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 69226 Gpx4 glutathione peroxidase 4 gene DOID:9001191 Cadmium Poisoning ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 69226 Gpx4 glutathione peroxidase 4 gene DOID:9004994 Embryo Loss ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12566075 69226 Gpx4 glutathione peroxidase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18850177 69226 Gpx4 glutathione peroxidase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634480 69226 Gpx4 glutathione peroxidase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:736049 D RGD:152995451|PMID:20378690 20220622 RGD DNA:silent mutation:CDS: (rs713041) (human) 69226 Gpx4 glutathione peroxidase 4 gene DOID:9452 fatty liver disease ISO RGD:736049 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 69227 Gpx5 glutathione peroxidase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1352844 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69227 Gpx5 glutathione peroxidase 5 gene DOID:11372 megacolon ISO RGD:1352844 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 69227 Gpx5 glutathione peroxidase 5 gene DOID:630 genetic disease ISO RGD:1352844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69228 Cxxc4 CXXC finger protein 4 gene DOID:630 genetic disease ISO RGD:1354389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69229 Rack1 receptor for activated C kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 69229 Rack1 receptor for activated C kinase 1 gene DOID:224 transient cerebral ischemia IDA D RGD:9588303|PMID:24007266 20150511 RGD 69229 Rack1 receptor for activated C kinase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:733289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:0081292 traumatic brain injury IEP D RGD:13830881|PMID:20713027 20181207 RGD 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease ISO RGD:735592 D RGD:13830879|PMID:21223993 20181207 RGD 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1350432 D RGD:13830878|PMID:23727081 20181207 RGD DNA:SNP: :rs1868402 (human) 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1350432 D RGD:1580709|PMID:15012912 19990101 RGD 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISS RGD:735592 D RGD:13592920 20210121 MouseDO 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:5419 schizophrenia ISS RGD:735592 D RGD:13592920 20180518 MouseDO OMIM:181500 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:1580706|PMID:16688406 19990101 RGD 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:1580708|PMID:16209992 19990101 RGD 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia IDA D RGD:1580707|PMID:16214533 19990101 RGD 69230 Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:1350432 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0050771 pheochromocytoma ISO RGD:732223 D RGD:13792787|PMID:25879199 20180928 RGD 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732223 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:7240710 20130221 OMIM 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder PMID:10521307|PMID:11102558|PMID:12112118|PMID:12555940|PMID:12696021|PMID:12872843|PMID:15059617|PMID:15342248|PMID:16148061|PMID:16176262|PMID:17236142|PMID:17618155|PMID:18996107|PMID:20077426|PMID:22132097|PMID:23266819|PMID:24549042|PMID:25741868|PMID:26950678|PMID:28333917|PMID:28492532|PMID:31654490|PMID:34765396 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0080600 COVID-19 ISO RGD:732223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:1332361 D RGD:632866|PMID:11869808 20180927 RGD protein:increased expression:hippocampus, neuron, mitochondria 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:732223 D RGD:1358426|PMID:9338779 19990101 RGD protein:increased expression:brain (human) 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332361 D RGD:13792781|PMID:21307267 20180927 RGD 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:12849 autistic disorder ISO RGD:732223 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:14227 azoospermia ISO RGD:1332361 D RGD:13792783|PMID:9851691 20180927 RGD mRNA:increased expression:testis 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:3347 osteosarcoma treatment ISO RGD:732223 D RGD:13792789|PMID:19449377 20180928 RGD 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732223 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:607 paraplegia ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15342248|PMID:25741868|PMID:28492532 69231 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 gene DOID:9004603 Atkin Syndrome ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 69232 Ppp3r2 protein phosphatase 3, regulatory subunit B, beta gene DOID:0081292 traumatic brain injury IEP D RGD:13830881|PMID:20713027 20181207 RGD 69232 Ppp3r2 protein phosphatase 3, regulatory subunit B, beta gene DOID:1059 intellectual disability ISO RGD:1346251 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69232 Ppp3r2 protein phosphatase 3, regulatory subunit B, beta gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 69232 Ppp3r2 protein phosphatase 3, regulatory subunit B, beta gene DOID:630 genetic disease ISO RGD:1346251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69232 Ppp3r2 protein phosphatase 3, regulatory subunit B, beta gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 69233 Smpx small muscle protein, X-linked gene DOID:0050566 X-linked nonsyndromic deafness ISO RGD:736270 D RGD:8554872 20180619 ClinVar ClinVar Annotator: match by term: X-linked deafness 69233 Smpx small muscle protein, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736270 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 69233 Smpx small muscle protein, X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:7240710 20130731 OMIM 69233 Smpx small muscle protein, X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 PMID:21549336|PMID:21549342|PMID:22911656|PMID:25741868|PMID:28492532|PMID:8872482 69233 Smpx small muscle protein, X-linked gene DOID:12849 autistic disorder ISO RGD:736270 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69233 Smpx small muscle protein, X-linked gene DOID:630 genetic disease ISO RGD:736270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69233 Smpx small muscle protein, X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:7240710 20220427 OMIM 69233 Smpx small muscle protein, X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked PMID:28492532|PMID:33974137 69233 Smpx small muscle protein, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736270 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69233 Smpx small muscle protein, X-linked gene DOID:9004538 Hearing Loss ISO RGD:736270 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050783 secondary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1348965 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:7240710 20150701 OMIM 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 PMID:23455423|PMID:25741868 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:7240710 20150701 OMIM 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 PMID:20116073|PMID:23455423|PMID:25616961|PMID:25741868 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:10652 Alzheimer's disease ISO RGD:1348965 D RGD:9999191|PMID:22628224 20150410 RGD protein:decreased expression:entorhinal cortex (human) 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1348965 D RGD:8554872 20141009 ClinVar ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:305 carcinoma ISO RGD:1348965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:321 tropical spastic paraparesis ISO RGD:1348965 D RGD:10045967|PMID:11984596 20150626 RGD 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348965 D RGD:9999189|PMID:20716340 20150410 RGD protein:increased expression:lung (human) 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1348965 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:630 genetic disease ISO RGD:1348965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348965 D RGD:9685423|PMID:23633480 20150611 RGD protein:increased expression:liver (human) 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348965 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348965 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9006205 Animal Disease Models ISO RGD:1348965 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69234 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348965 D RGD:9999439|PMID:21194727 20150420 RGD protein:altered expression:colonic epithelium, nucleus, cytoplasm (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0050661 vitelliform macular dystrophy susceptibility ISO RGD:732659 D RGD:7394745|PMID:22893068 20131101 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0060863 patterned macular dystrophy susceptibility ISO RGD:732659 D RGD:7394745|PMID:22893068 20131101 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0080600 COVID-19 ISO RGD:732659 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:7240710 20130425 OMIM 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:7387295|PMID:20157352 20131028 RGD DNA:polymorphisms:multiple (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration PMID:17053108|PMID:17053109|PMID:17568988|PMID:18511946|PMID:19259132|PMID:30068478|PMID:31719132|PMID:34510819|PMID:34626176 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 severity ISO RGD:732659 D RGD:7394719|PMID:19796758 20131031 RGD DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:7394713|PMID:19933195 20131031 RGD DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:7394721|PMID:18436811 20131031 RGD DNA:snp:promoter:g.-497C>T (rs2672598) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:7394722|PMID:18207215 20131031 RGD DNA:polymorphisms:multiple (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:7240710 20190315 OMIM 69235 Htra1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 PMID:19387015|PMID:25712943|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27164673|PMID:28402226|PMID:28492532|PMID:29561953|PMID:29895533|PMID:30447605|PMID:30981321|PMID:31316458|PMID:32101834|PMID:32581362|PMID:34220097 69235 Htra1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer ISO RGD:732659 D RGD:11058317|PMID:25761858 20220607 RGD protein:decreased expression:stomach (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer treatment ISO RGD:732659 D RGD:152977763|PMID:21447133 20220606 RGD 69235 Htra1 HtrA serine peptidase 1 gene DOID:10763 hypertension ISO RGD:732659 D RGD:7394697|PMID:21682878 20131030 RGD associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:10871 age related macular degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1894G>A (rs3793917) (human) PMID:22618592|REF_RGD_ID:7394695 69235 Htra1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:7387322|PMID:22800422 20131029 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:7394724|PMID:18164066 20131031 RGD DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:732659 D RGD:152985525|PMID:22935172 20220607 RGD mRNA,protein:decreased expression:esophagus (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:13945 CADASIL ISO RGD:732659 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 69235 Htra1 HtrA serine peptidase 1 gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:732659 D RGD:152975625|PMID:18681782 20220527 RGD protein:increased expression:mesothelium (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:1826 epilepsy ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 69235 Htra1 HtrA serine peptidase 1 gene DOID:2152 ovary epithelial cancer treatment ISO RGD:732659 D RGD:9068941 20220603 RGD PMID:16767218|REF_RGD_ID:152977756 69235 Htra1 HtrA serine peptidase 1 gene DOID:219 colon cancer disease_progression ISO RGD:732659 D RGD:152985527|PMID:32218415 20220607 RGD DNA:SNP:cds: (rs1049331) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:2340 craniosynostosis ISO RGD:732659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 69235 Htra1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:732659 D RGD:152975633|PMID:23079781 20220603 RGD human gene and cells in mouse model 69235 Htra1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:732659 D RGD:152975633|PMID:23079781 20220603 RGD mRNA,protein:decreased expression:epithelium of esophagus (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732659 D RGD:152975629|PMID:32878625 20220527 RGD protein:decreased expression:lung (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732659 D RGD:152975621|PMID:24356998 20220526 RGD human cells in mouse model 69235 Htra1 HtrA serine peptidase 1 gene DOID:4448 macular degeneration ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18164066|PMID:18316707|PMID:20437615|PMID:25741868|PMID:26467025|PMID:27338780|PMID:28492532|PMID:28782182|PMID:32017060 69235 Htra1 HtrA serine peptidase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:732659 D RGD:7394695|PMID:22618592 20131030 RGD DNA:snp:promoter:g.-1894G>A (rs3793917) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:630 genetic disease ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 69235 Htra1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732659 D RGD:152985529|PMID:26403966 20220607 RGD mRNA:decreased expression:liver (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732659 D RGD:152985524|PMID:20943460 20220607 RGD protein:decreased expression:liver (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:732659 D RGD:152985530|PMID:28586045 20220607 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:8725 vascular dementia ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:24500651|PMID:25741868|PMID:33268848|PMID:35307828 69235 Htra1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:7394694|PMID:18682806 20131030 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:7394749|PMID:21844367 20131104 RGD human gene in mouse model 69235 Htra1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization no_association ISO RGD:732659 D RGD:7394720|PMID:19680273 20131031 RGD associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:7240710 20141015 OMIM 69235 Htra1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease PMID:11889251|PMID:18316707|PMID:19387015|PMID:20437615|PMID:21115960|PMID:21482952|PMID:22900900|PMID:23963851|PMID:24500651|PMID:24535794|PMID:25741868|PMID:25770224|PMID:25772074|PMID:25957642|PMID:26063658|PMID:26467025|PMID:27164673|PMID:27353043|PMID:28492532|PMID:28782182|PMID:29561953|PMID:29895533|PMID:30859180|PMID:31316458|PMID:32101834|PMID:32581362|PMID:33268848|PMID:34220097 69235 Htra1 HtrA serine peptidase 1 gene DOID:9001427 Geographic Atrophy ISO RGD:732659 D RGD:7394693|PMID:17426452 20131030 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 69235 Htra1 HtrA serine peptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732659 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 69235 Htra1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:732659 D RGD:7394749|PMID:21844367 20131104 RGD human gene in mouse model 69235 Htra1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:732659 D RGD:7394751|PMID:23326481 20131104 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer ISO RGD:732659 D RGD:152985530|PMID:28586045 20220607 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732659 D RGD:152977762|PMID:32486357 20220606 RGD mRNA, protein:increased expression,decreased expression:colorectal mucosa (human) 69235 Htra1 HtrA serine peptidase 1 gene DOID:9351 diabetes mellitus ISO RGD:732659 D RGD:152975631|PMID:27411924 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:0110222 Brugada syndrome 5 ISO RGD:736744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:305 carcinoma ISO RGD:736744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:543 dystonia ISO RGD:736744 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:630 genetic disease ISO RGD:736744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 69236 Lsr lipolysis stimulated lipoprotein receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736744 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:0060250 idiopathic scoliosis ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic scoliosis PMID:28492532|PMID:29240829 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:733345 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:733345 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:733345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:10908 hydrocephalus ISS RGD:736028 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:12849 autistic disorder ISO RGD:733345 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:3393 coronary artery disease ISO RGD:733345 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:630 genetic disease ISO RGD:733345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733345 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 69237 Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733345 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 69238 Prss12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:7240710 20130221 OMIM 69238 Prss12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 PMID:12459588|PMID:18414213|PMID:25741868|PMID:28492532 69238 Prss12 serine protease 12 gene DOID:1059 intellectual disability ISO RGD:733403 D RGD:737771|PMID:12459588 19990101 RGD DNA:deletion:exon:1350-1353delACGT (human) 69238 Prss12 serine protease 12 gene DOID:1059 intellectual disability ISO RGD:733403 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213 69238 Prss12 serine protease 12 gene DOID:2843 long QT syndrome ISO RGD:733403 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 69238 Prss12 serine protease 12 gene DOID:630 genetic disease ISO RGD:733403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69238 Prss12 serine protease 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733403 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080102 congenital fiber-type disproportion ISO RGD:732554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:14972325|PMID:16503651|PMID:17698786|PMID:25617006|PMID:25741868|PMID:28492532|PMID:29480215|PMID:33250842 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11916006 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:11554173 20180801 CTD CTD Direct Evidence: marker/mechanism PMID:12473780 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:7240710 20130221 OMIM 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:11916006|PMID:12177386|PMID:12325084|PMID:12409274|PMID:12473753|PMID:12473769|PMID:12473780|PMID:12497639|PMID:12743242|PMID:12811782|PMID:12913203|PMID:14678807|PMID:14707127|PMID:14733962|PMID:14733963|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15330759|PMID:15670773|PMID:15793292|PMID:15834044|PMID:15987957|PMID:16112887|PMID:16199547|PMID:16372135|PMID:16503389|PMID:16503651|PMID:16810679|PMID:17098358|PMID:17164266|PMID:17261181|PMID:17576681|PMID:17698786|PMID:17704511|PMID:17706199|PMID:17718674|PMID:18383535|PMID:18555875|PMID:19078806|PMID:19596068|PMID:19841673|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:20346669|PMID:21131200|PMID:21294420|PMID:21307865|PMID:21436238|PMID:21517694|PMID:21708040|PMID:21873062|PMID:21910480|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:22507750|PMID:22855677|PMID:22883483|PMID:23127962|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23558691|PMID:23806237|PMID:24005727|PMID:24027297|PMID:2402797|PMID:24033266|PMID:24136589|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24737350|PMID:2473753|PMID:24796702|PMID:25046369|PMID:25061177|PMID:25123033|PMID:25182749|PMID:25257349|PMID:25303967|PMID:25422667|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25741868|PMID:25966635|PMID:25978849|PMID:25986339|PMID:26053703|PMID:26161358|PMID:26231298|PMID:26467025|PMID:26627873|PMID:26968811|PMID:26980148|PMID:27363342|PMID:27457812|PMID:27479822|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:27966821|PMID:2808337|PMID:28099567|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29305133|PMID:29307446|PMID:29406958|PMID:29480215|PMID:29941673|PMID:29997562|PMID:30112071|PMID:30160005|PMID:30390020|PMID:30467490|PMID:30842975|PMID:30990900|PMID:31064749|PMID:31167812|PMID:31286697|PMID:32053088|PMID:32505938|PMID:32935436|PMID:33031330|PMID:33214394|PMID:33250842|PMID:5182749|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080942 anauxetic dysplasia ISO RGD:732554 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:732554 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1588 thrombocytopenia ISO RGD:732554 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1826 epilepsy ISO RGD:732554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17261181 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Inclusion body myositis PMID:25741868 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:7240710 20130221 OMIM 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:630 genetic disease ISO RGD:732554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330343|PMID:11326336|PMID:17576681|PMID:19917666|PMID:20301343|PMID:2443758|PMID:28492532|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9001727 French Type Sialuria ISO RGD:732554 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sialuria, French type PMID:11528398|PMID:12497639|PMID:17576681|PMID:20175955|PMID:21708040|PMID:24005727|PMID:25182749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:732554 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 69239 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9870 galactosemia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 69240 Mogs mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:7240710 20140430 OMIM 69240 Mogs mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:10788335|PMID:12145188|PMID:16199547|PMID:24716661|PMID:25531304|PMID:25741868|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532|PMID:29235540|PMID:30587846|PMID:31925597|PMID:32246563|PMID:32860008|PMID:33058492|PMID:33261925 69240 Mogs mannosyl-oligosaccharide glucosidase gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:24716661 69240 Mogs mannosyl-oligosaccharide glucosidase gene DOID:543 dystonia ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 69240 Mogs mannosyl-oligosaccharide glucosidase gene DOID:630 genetic disease ISO RGD:732423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 69240 Mogs mannosyl-oligosaccharide glucosidase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736229 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736229 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:1826 epilepsy ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736229 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:2871 endometrial carcinoma ISO RGD:736229 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:630 genetic disease ISO RGD:736229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69242 Mlst8 MTOR associated protein, LST8 homolog gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736229 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 69243 Tmed2 transmembrane p24 trafficking protein 2 gene DOID:630 genetic disease ISO RGD:735876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69243 Tmed2 transmembrane p24 trafficking protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735876 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 69244 Abcd2 ATP binding cassette subfamily D member 2 gene DOID:1459 hypothyroidism treatment ISO RGD:730968 D RGD:13673918|PMID:28200172 20180706 RGD 69244 Abcd2 ATP binding cassette subfamily D member 2 gene DOID:630 genetic disease ISO RGD:730967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69244 Abcd2 ATP binding cassette subfamily D member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730967 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 69245 Acox3 acyl-CoA oxidase 3, pristanoyl gene DOID:630 genetic disease ISO RGD:736892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69245 Acox3 acyl-CoA oxidase 3, pristanoyl gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736892 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 69246 Gtf2a1 general transcription factor 2A subunit 1 gene DOID:630 genetic disease ISO RGD:733620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10338089|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:15886397|PMID:15998776|PMID:16123337|PMID:16166157|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17490422|PMID:17491708|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18556340|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20642364|PMID:20685672|PMID:20686794|PMID:20694718|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21544516|PMID:21812132|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24434300|PMID:2462236|PMID:24622368|PMID:25201519|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26545876|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27188453|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29439679|PMID:29893194|PMID:30297969|PMID:30377186|PMID:30386300|PMID:30663027|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:34737607|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448107|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16123337|PMID:16455067|PMID:16670688|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17823772|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:24068186|PMID:24150202|PMID:25555642|PMID:25678012|PMID:25739471|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28083968|PMID:28492532|PMID:29893194|PMID:32279225|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33816067|PMID:34566892|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:69098 D RGD:11067932|PMID:15115830 20170210 RGD DNA:missense mutations: :multiple 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:69098 D RGD:12743642|PMID:16670688 20170213 RGD DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10049691|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12213829|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14551916|PMID:14692646|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17296510|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:17901525|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18556340|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20642364|PMID:20685672|PMID:20686794|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21352428|PMID:21422196|PMID:21544516|PMID:21765448|PMID:21812132|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22749773|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24150202|PMID:24421282|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25201519|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28083968|PMID:28123437|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29361385|PMID:29893194|PMID:30286572|PMID:30377186|PMID:30663027|PMID:31218401|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32279225|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33409956|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:9831713|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISS RGD:69099 D RGD:13592920 20210211 MouseDO OMIM:606176 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:7240710 20180912 OMIM 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:10338089|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17316607|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20032456|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20694718|PMID:20980454|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23700433|PMID:24434300|PMID:24698822|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26740944|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28938416|PMID:29216354|PMID:29893194|PMID:30026763|PMID:30297969|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0080855 Parkinsonism IEP D RGD:1598645|PMID:15857625 20061209 RGD mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:24401662|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:28173619|PMID:28262438|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:31195986|PMID:32935446|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:7240710 20150513 OMIM 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:10338089|PMID:11318841|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:21054355|PMID:21115269|PMID:21119644|PMID:21210267|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23667671|PMID:2462236|PMID:24622368|PMID:24698822|PMID:25247988|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:27033559|PMID:27118464|PMID:28347637|PMID:28352326|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:31291970|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:1059 intellectual disability ISO RGD:69098 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:10763 hypertension IEP D RGD:1598644|PMID:15964031 20061209 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:11446 sciatic neuropathy IEP D RGD:7297043|PMID:17108688 20130910 RGD mRNA:increased expression:dorsal root ganglion 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:11716 prediabetes syndrome IEP D RGD:2311538|PMID:18001323 20090722 RGD associated with Obesity;protein:decreased expression:hypothalamus 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:11717 neonatal diabetes ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:10049691|PMID:10338089|PMID:12213829|PMID:12524280|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17296510|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17901525|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18767144|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21352428|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22749773|PMID:22768671|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25308342|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:33409956|PMID:33816067|PMID:33987715|PMID:34566892|PMID:8897013|PMID:9831713 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:11832 visual epilepsy IEP D RGD:2301911|PMID:18021373 20090722 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:69098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Nesidioblastosis PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:1824 status epilepticus IEP D RGD:5686281|PMID:22050960 20170307 RGD mRNA:increased expression:hippocampus 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:2018 hyperinsulinism ISO RGD:69098 D RGD:1625277|PMID:15998776 20070531 RGD protein:substitution: :p.H259R (human) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:2018 hyperinsulinism ISO RGD:69098 D RGD:1625279|PMID:16416420 20070531 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:2018 hyperinsulinism ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17823772|PMID:17901525|PMID:18414213|PMID:18596924|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20022885|PMID:20032456|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20980454|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:23700433|PMID:24068186|PMID:24434300|PMID:24622368|PMID:24698822|PMID:25308342|PMID:25639667|PMID:25741868|PMID:25871929|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27173951|PMID:27181376|PMID:27681997|PMID:28480665|PMID:28492532|PMID:28938416|PMID:29893194|PMID:32027066|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33987715|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:3310 atopic dermatitis ISO RGD:69098 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Atopic eczema 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:630 genetic disease ISO RGD:69098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15580558|PMID:15718250|PMID:18414213|PMID:18767144|PMID:21119644|PMID:22512215|PMID:22701567|PMID:23345197|PMID:24068186|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27173951|PMID:27181376|PMID:28492532|PMID:31291970|PMID:32935446|PMID:33046911 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:7240710 20130221 OMIM 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:10338089|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17823772|PMID:17901525|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24421282|PMID:24434300|PMID:2462236|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28347637|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33853507|PMID:33987715|PMID:34566892|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69099 D RGD:7297042|PMID:18802029 20140130 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7296920|PMID:23785408 20130904 RGD protein:decreased expression:brain 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:16609879|PMID:16885549|PMID:17446535|PMID:17466004|PMID:17635943|PMID:18073297|PMID:18414213|PMID:20301620|PMID:21340152|PMID:23226037|PMID:25741868|PMID:26388896|PMID:27223594|PMID:28492532|PMID:30286572 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7297045|PMID:21250976 20130910 RGD protein:decreased expression:kidney 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:7240710 20200520 OMIM 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2 PMID:11872696|PMID:12475776|PMID:12524280|PMID:14871556|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17327377|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17728498|PMID:17901525|PMID:18073297|PMID:18414213|PMID:18662362|PMID:19065048|PMID:19139106|PMID:20022885|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21340152|PMID:21765448|PMID:22512215|PMID:22768671|PMID:22958899|PMID:24622368|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28352326|PMID:28480665|PMID:28492532|PMID:30286572|PMID:32027066|PMID:32792356|PMID:32893419|PMID:33324081|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:11069847|PMID:23652837 20170221 RGD DNA:missense mutations, frameshift mutations:CDS:multiple 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15579781 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:12743624|PMID:24421282 20170210 RGD DNA:missense mutation:exon:p.R34H (c.101G>A) (human) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:12743643|PMID:17316607 20170213 RGD DNA:deletion, insertion:exon 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:12790587|PMID:24401662 20170216 RGD DNA:deletion, frameshift mutation, missense mutations:exon:multiple 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:12790723|PMID:23506826 20170221 RGD DNA:SNPs:exon:c.151G>T, c.1017G>T (human) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9007102 Myocardial Ischemia IEP D RGD:12790977|PMID:26591689 20170223 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9007447 Developmental Delay, Epilepsy, and Neonatal Diabetes ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEND syndrome PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9007692 Insulin Resistance ISO RGD:69098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9032110 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69099 D RGD:7297046|PMID:17906066 20130910 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9351 diabetes mellitus ISO RGD:69098 D RGD:1625256|PMID:15292329 20070531 RGD Diabetes Mellitus, permanent neonatal, OMIM:606176 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9351 diabetes mellitus ISO RGD:69098 D RGD:1625279|PMID:16416420 20070531 RGD 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9351 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10338089|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15807877|PMID:16123337|PMID:16357843|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:18250167|PMID:18414213|PMID:18767144|PMID:20301620|PMID:20685672|PMID:21115269|PMID:21119644|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:23275527|PMID:23345197|PMID:23667671|PMID:24421282|PMID:2462236|PMID:24622368|PMID:24686051|PMID:25247988|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:27908292|PMID:28270372|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28787272|PMID:28925365|PMID:31218401|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:8897013 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9351 diabetes mellitus ISO RGD:69099 D RGD:2311536|PMID:19065048 20090722 RGD DNA:mutation: :p.V59M (mouse) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:12790969|PMID:24681897 20170223 RGD mRNA:increased expression:heart 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:22209866 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:2311533|PMID:19502414 20090722 RGD DNA:SNP 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:2311534|PMID:19498446 20090722 RGD DNA:polymorphism: :p.E23K (human) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:2313610|PMID:15565284 20091006 RGD polymorphisms in the human gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:2313628|PMID:17259403 20091006 RGD DNA:missense mutation::p.E23K (human) 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:7240710 20130221 OMIM 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15998776|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:24401662|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:28173619|PMID:28262438|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:31195986|PMID:32935446|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69098 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18025464 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:12524280|PMID:15115830|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17901525|PMID:18414213|PMID:18662362|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:22768671|PMID:24622368|PMID:25308342|PMID:25741868|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28480665|PMID:28492532|PMID:29361385|PMID:32792356|PMID:32893419|PMID:33816067|PMID:33987715 69247 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 gene DOID:9993 hypoglycemia ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:18596924|PMID:20032456|PMID:23700433|PMID:27908292|PMID:31464105 69248 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 69248 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 69248 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 69248 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:10283 prostate cancer ISO RGD:736707 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69248 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736707 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 69248 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:630 genetic disease ISO RGD:736707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050476 Barth syndrome ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050800 creatine transporter deficiency ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0112003 immunodeficiency 33 ISO RGD:1605290 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:10588 adrenoleukodystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:12849 autistic disorder ISO RGD:1605290 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:13628 favism ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:2729 dyskeratosis congenita ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:607 paraplegia ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:630 genetic disease ISO RGD:1605290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69249 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:9002720 Splenomegaly ISO RGD:1605290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 69250 Wnt5a Wnt family member 5A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353257 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28726637 69250 Wnt5a Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:1353257 D RGD:11554173 20180206 CTD CTD Direct Evidence: marker/mechanism 69250 Wnt5a Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:7240710 20180131 OMIM 69250 Wnt5a Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:16602827|PMID:18414213|PMID:19918918|PMID:24716670|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29276006|PMID:30760477|PMID:5771504 69250 Wnt5a Wnt family member 5A gene DOID:219 colon cancer treatment IEP D RGD:150530464|PMID:28032729 20211208 RGD 69250 Wnt5a Wnt family member 5A gene DOID:2871 endometrial carcinoma ISO RGD:1353257 D RGD:2291875|PMID:9099960 20080725 RGD 69250 Wnt5a Wnt family member 5A gene DOID:630 genetic disease ISO RGD:1353257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69250 Wnt5a Wnt family member 5A gene DOID:9002739 Female Urogenital Diseases ISO RGD:1353257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 69250 Wnt5a Wnt family member 5A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 69250 Wnt5a Wnt family member 5A gene DOID:9005172 Lung Neoplasms ISO RGD:1353257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349696 69250 Wnt5a Wnt family member 5A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353257 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19061910 69251 Hpgds hematopoietic prostaglandin D synthase gene DOID:409 liver disease ISO RGD:732845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 69251 Hpgds hematopoietic prostaglandin D synthase gene DOID:630 genetic disease ISO RGD:732845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69251 Hpgds hematopoietic prostaglandin D synthase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69251 Hpgds hematopoietic prostaglandin D synthase gene DOID:9002265 Kidney Neoplasms ISO RGD:732845 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 69251 Hpgds hematopoietic prostaglandin D synthase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732845 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 69252 Ier5 immediate early response 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 69252 Ier5 immediate early response 5 gene DOID:1540 parathyroid carcinoma ISO RGD:737469 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 69252 Ier5 immediate early response 5 gene DOID:630 genetic disease ISO RGD:737469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69252 Ier5 immediate early response 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737469 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 69252 Ier5 immediate early response 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737469 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 69253 Pitx1 paired-like homeodomain 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69253 Pitx1 paired-like homeodomain 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:733838 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:25741868 69253 Pitx1 paired-like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:7240710 20130221 OMIM 69253 Pitx1 paired-like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot PMID:18950742|PMID:22258522|PMID:25741868|PMID:28492532 69253 Pitx1 paired-like homeodomain 1 gene DOID:12849 autistic disorder ISO RGD:733838 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18053270 69253 Pitx1 paired-like homeodomain 1 gene DOID:630 genetic disease ISO RGD:733838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69253 Pitx1 paired-like homeodomain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733838 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 69253 Pitx1 paired-like homeodomain 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733838 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 69253 Pitx1 paired-like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:7240710 20141015 OMIM 69253 Pitx1 paired-like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liebenberg syndrome PMID:25741868|PMID:28492532 69253 Pitx1 paired-like homeodomain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733838 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69253 Pitx1 paired-like homeodomain 1 gene DOID:9005616 Micrognathism ISO RGD:733838 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 69253 Pitx1 paired-like homeodomain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69254 Impa1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:7240710 20190315 OMIM 69254 Impa1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59 PMID:25741868|PMID:26416544|PMID:32839513 69254 Impa1 inositol monophosphatase 1 gene DOID:1059 intellectual disability ISO RGD:737559 D RGD:126781710|PMID:26416544 20210416 RGD DNA:frameshift mutation:CDS:c.489_493dupGGGCT (human) 69254 Impa1 inositol monophosphatase 1 gene DOID:630 genetic disease ISO RGD:737559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69254 Impa1 inositol monophosphatase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737560 D RGD:126781711|PMID:30604625 20210416 RGD 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:0112103 Sotos syndrome 1 ISO RGD:730896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:224 transient cerebral ischemia treatment IDA D RGD:9999181|PMID:22366221 20150409 RGD 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:630 genetic disease ISO RGD:730896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:684 hepatocellular carcinoma severity ISO RGD:730896 D RGD:10059322|PMID:24638979 20150812 RGD mRNA:increased expression:liver (human) 69255 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15538050 69256 Slc24a3 solute carrier family 24 member 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 69256 Slc24a3 solute carrier family 24 member 3 gene DOID:630 genetic disease ISO RGD:735914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69256 Slc24a3 solute carrier family 24 member 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735914 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 69257 Aplp1 amyloid beta precursor like protein 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 69257 Aplp1 amyloid beta precursor like protein 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 69257 Aplp1 amyloid beta precursor like protein 1 gene DOID:630 genetic disease ISO RGD:736696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050073 invasive aspergillosis ISO RGD:737313 D RGD:5508765|PMID:21423669 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050553 JMP syndrome ISO RGD:737312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737312 D RGD:6767556|PMID:21939913 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050697 chorioamnionitis ISO RGD:737312 D RGD:6767308|PMID:22578261 20120709 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050850 diabetic encephalopathy treatment IEP D RGD:7244255|PMID:23529380 20130530 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050850 diabetic encephalopathy treatment IEP D RGD:8553040|PMID:24291733 20140808 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050851 glomerulosclerosis ISO RGD:737313 D RGD:7243247|PMID:23046363 20130514 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737313 D RGD:7244139|PMID:20554645 20130522 RGD associated with Diabetic Nephropathies 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737312 D RGD:7245533|PMID:22669512 20130610 RGD mRNA:decreased expression:lung (kidney) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737313 D RGD:7243851|PMID:22698914 20130515 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0050855 renal fibrosis treatment IDA D RGD:7244186|PMID:21704028 20130528 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0060224 atrial fibrillation ISO RGD:737312 D RGD:6767560|PMID:21652096 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0080162 lupus nephritis ISO RGD:737312 D RGD:6767309|PMID:22513366 20120709 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0080199 colorectal carcinoma treatment IEP D RGD:7245559|PMID:22467055 20130611 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0080322 polycystic kidney disease ISO RGD:737313 D RGD:7244164|PMID:20606421 20130523 RGD protein:increased expression:kidney (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0080820 occupational asthma ISO RGD:737312 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 69258 Ager advanced glycosylation end product-specific receptor gene DOID:0080832 mild cognitive impairment ISO RGD:737312 D RGD:7245561|PMID:22415896 20230404 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10283 prostate cancer ISO RGD:737312 D RGD:7243251|PMID:15666359 20130514 RGD mRNA:increased expression:prostate gland (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10646 schizotypal personality disorder susceptibility ISO RGD:737312 D RGD:6767315|PMID:22146151 20120710 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease IEP D RGD:7244266|PMID:23396166 20130530 RGD protein:increased expression:hippocampus (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:1300365|PMID:8751438 19990101 RGD protein:increased expression:brain (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:7245561|PMID:22415896 20230404 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:6784502|PMID:22745485 20120801 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:7244287|PMID:23164356 20130531 RGD mRNA:increased expression:hippocampus, cerebral cortex (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease treatment IDA D RGD:7244266|PMID:23396166 20130530 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:737313 D RGD:7245965|PMID:21593432 20130617 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10763 hypertension IEP D RGD:2325653|PMID:19018797 20100604 RGD protein:increased expression:kidney 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10763 hypertension ISO RGD:737312 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 69258 Ager advanced glycosylation end product-specific receptor gene DOID:10941 intracranial aneurysm IEP D RGD:8547935|PMID:23844137 20140808 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:11394 adult respiratory distress syndrome IEP D RGD:1625343|PMID:16456142 20070604 RGD protein:increased expression:lung 69258 Ager advanced glycosylation end product-specific receptor gene DOID:11476 osteoporosis IEP D RGD:7245948|PMID:22036861 20130613 RGD mRNA:increased expression:proximal end of left femur (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:11476 osteoporosis ISO RGD:737313 D RGD:6767561|PMID:21542009 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:11713 diabetic angiopathy ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20372816 69258 Ager advanced glycosylation end product-specific receptor gene DOID:11981 morbid obesity treatment ISO RGD:737312 D RGD:7243249|PMID:22828946 20130514 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:12217 Lewy body dementia ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1287 cardiovascular system disease IEP D RGD:7244145|PMID:20056977 20130522 RGD associated with Kidney Failure, Chronic; protein:increased expression:myocardium, aorta (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:1566451|PMID:12606536 19990101 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:7244158|PMID:20040351 20130523 RGD associated with Diabetic Nephropathies; DNA:deletion, polymorphisms, haplotype:promoter:g.-407_-345del, g.-374T>A, g.-429T>C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:12918 thromboangiitis obliterans IEP D RGD:7207785|PMID:23069071 20130604 RGD mRNA, protein:increased expression:femoral artery (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:12918 thromboangiitis obliterans treatment IDA D RGD:7207785|PMID:23069071 20130604 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737312 D RGD:8695978|PMID:16364297 20140807 RGD protein:increased expression:vitreous humor 69258 Ager advanced glycosylation end product-specific receptor gene DOID:13378 Kawasaki disease severity ISO RGD:737312 D RGD:8695960|PMID:22337222 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:13564 aspergillosis ISO RGD:737312 D RGD:8695981|PMID:22114731 20140807 RGD DNA:SNP:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1395 schistosomiasis ISO RGD:737313 D RGD:7243187|PMID:23369670 20130513 RGD protein:decreased expression:lung (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:14115 toxic shock syndrome ISO RGD:737313 D RGD:6767566|PMID:21270403 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737313|RGD:737312 D RGD:8695959|PMID:24127697 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1485 cystic fibrosis severity ISO RGD:737312 D RGD:6767553|PMID:21993476 20120711 RGD DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1793 pancreatic cancer ISO RGD:737312 D RGD:2325643|PMID:20398646 20100604 RGD protein:decreased expression:serum 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1875 impotence treatment IDA D RGD:7244246|PMID:23698784 20130529 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1891 optic nerve disease ISO RGD:737312 D RGD:8695971|PMID:19277685 20140807 RGD associated with Alzheimer Disease;protein:increased expression:optic nerve 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1909 melanoma treatment ISO RGD:737312 D RGD:8695970|PMID:15009731 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis IEP D RGD:6784516|PMID:20835270 20120801 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19939336|PMID:20372816 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:6767557|PMID:21906738 20130516 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis ISO RGD:737313 D RGD:6784514|PMID:22552116 20120801 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis ISO RGD:737313 D RGD:6784515|PMID:21418204 20120801 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis treatment ISO RGD:737313 D RGD:7245947|PMID:22038096 20130613 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:1936 atherosclerosis treatment ISO RGD:737313 D RGD:8695994|PMID:23936343 20140808 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:224 transient cerebral ischemia IEP D RGD:7245542|PMID:22528836 20130610 RGD protein:altered expression:cerebral cortex, striatum (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:737313 D RGD:8696004|PMID:23288172 20140808 RGD protein:increased expression:brain, plasma 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2316 brain ischemia IEP D RGD:1625348|PMID:12618340 20070604 RGD mRNA:increased expression:pyramidal cell, hippocampus 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737312 D RGD:6767562|PMID:21511691 20120711 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2508 Takayasu's arteritis ISO RGD:737312 D RGD:8695992|PMID:20579752 20140807 RGD protein:decreased expression:serum 69258 Ager advanced glycosylation end product-specific receptor gene DOID:26 pancreas disease ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2773 contact dermatitis ISO RGD:737313 D RGD:8695987|PMID:23594597 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:6767554|PMID:21920897 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2841 asthma onset IEP D RGD:7244279|PMID:23304218 20130530 RGD protein:decreased expression:lung (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:2841 asthma treatment IDA D RGD:7244279|PMID:23304218 20130530 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3008 invasive ductal carcinoma ISO RGD:737312 D RGD:8695990|PMID:22366088 20140807 RGD protein:increased expression:breast 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3021 acute kidney failure ISO RGD:737312 D RGD:7243868|PMID:21811803 20130520 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737312 D RGD:6767312|PMID:20133931 20120710 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3393 coronary artery disease ISO RGD:737312 D RGD:8695960|PMID:22337222 20140807 RGD associated with Mucocutaneous Lymph Node Syndrome 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:737312 D RGD:6767569|PMID:20668462 20120712 RGD DNA:polymorphism:cds:p.G82S (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3407 carotid artery disease IEP D RGD:7245955|PMID:21813211 20130617 RGD protein:increased expression:hippocampus, cerebral cortex (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3407 carotid artery disease ISO RGD:737312 D RGD:6767557|PMID:21906738 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3525 middle cerebral artery infarction IEP D RGD:8696008|PMID:24211797 20140808 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:737312 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25446913 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3526 cerebral infarction ISO RGD:737312 D RGD:8696004|PMID:23288172 20140808 RGD protein:increased expression:plasma 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3770 pulmonary fibrosis IEP D RGD:8695997|PMID:24226635 20140808 RGD mRNA, protein:decreased expression:lung 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:737312 D RGD:7245533|PMID:22669512 20130610 RGD mRNA:decreased expression:lung (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737312 D RGD:7245515|PMID:15539404 20130610 RGD mRNA, protein:decreased expression:lung (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:399 tuberculosis severity ISO RGD:737313 D RGD:6767307|PMID:22698798 20120709 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:4001 ovarian carcinoma ISO RGD:737312 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 69258 Ager advanced glycosylation end product-specific receptor gene DOID:418 systemic scleroderma ISO RGD:737312 D RGD:8695973|PMID:18825489 20140807 RGD protein:increased expression:serum 69258 Ager advanced glycosylation end product-specific receptor gene DOID:418 systemic scleroderma ISO RGD:737313 D RGD:8695973|PMID:18825489 20140807 RGD protein:increased expression:serum 69258 Ager advanced glycosylation end product-specific receptor gene DOID:4195 hyperglycemia ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 69258 Ager advanced glycosylation end product-specific receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737312 D RGD:7244181|PMID:21947243 20130528 RGD mRNA:increased expression:renal cortex (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:4676 uremia IEP D RGD:1625341|PMID:16757496 20070604 RGD protein:increased expression:peritoneal cavity lining 69258 Ager advanced glycosylation end product-specific receptor gene DOID:5082 liver cirrhosis ISO RGD:737312 D RGD:7245533|PMID:22669512 20130610 RGD mRNA:decreased expression:lung (liver) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:5199 ureteral obstruction ISO RGD:737313 D RGD:7243949|PMID:23677242 20130521 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:520 aortic disease treatment IEP D RGD:7245538|PMID:22644855 20130610 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:737312 D RGD:6767315|PMID:22146151 20120710 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:557 kidney disease ISO RGD:737313 D RGD:7243938|PMID:21412218 20130521 RGD associated with Obesity 69258 Ager advanced glycosylation end product-specific receptor gene DOID:576 proteinuria susceptibility ISO RGD:737312 D RGD:1566451|PMID:12606536 19990101 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:5844 myocardial infarction IEP D RGD:2325647|PMID:19910580 20100604 RGD mRNA:increased expression:left ventricle myocardium (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:5844 myocardial infarction susceptibility ISO RGD:737312 D RGD:1625333|PMID:16728681 20070604 RGD DNA:polymorphism:promoter:-429T>C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:6000 congestive heart failure severity ISO RGD:737312 D RGD:7244134|PMID:20685687 20130522 RGD protein:increased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:630 genetic disease ISO RGD:737312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69258 Ager advanced glycosylation end product-specific receptor gene DOID:6432 pulmonary hypertension ISO RGD:737312 D RGD:7244258|PMID:21041689 20130530 RGD protein:increased expression:lung (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16385501 69258 Ager advanced glycosylation end product-specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:7244141|PMID:20541603 20130522 RGD protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:77 gastrointestinal system disease IEP D RGD:7244385|PMID:23002359 20130604 RGD Diabetic Gastrointestinal Disorder, associated with Diabetes Mellitus, Experimental; mRNA:increased expression:jejunum (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:77 gastrointestinal system disease treatment IDA D RGD:7244385|PMID:23002359 20130604 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:783 end stage renal disease ISO RGD:737312 D RGD:7243867|PMID:21822023 20130520 RGD protein:increased expression:serum (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:7243867|PMID:21822023 20130520 RGD protein:increased expression:serum (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:7243958|PMID:21432860 20130521 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:784 chronic kidney disease disease_progression ISO RGD:737312 D RGD:7243185|PMID:23593165 20130513 RGD DNA:polymorphism:promoter:g.-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:784 chronic kidney disease severity ISO RGD:737312 D RGD:7242570|PMID:20185929 20130522 RGD DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:784 chronic kidney disease susceptibility ISO RGD:737312 D RGD:7244142|PMID:20353610 20130522 RGD associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:824 periodontitis IEP D RGD:7245487|PMID:22924807 20130606 RGD protein:increased expression:periodontium (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:824 periodontitis ISO RGD:737312 D RGD:6784499|PMID:22795565 20120801 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8398 osteoarthritis ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8398 osteoarthritis treatment IEP D RGD:8695985|PMID:23894457 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8515 Cor pulmonale ISO RGD:737312 D RGD:6767563|PMID:21450080 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:874 bacterial pneumonia severity ISO RGD:737313 D RGD:6767559|PMID:21629785 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8881 rosacea ISO RGD:737313 D RGD:6767564|PMID:21347371 20120711 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8893 psoriasis ISO RGD:737312 D RGD:8695975|PMID:12029499 20140807 RGD DNA:SNP: :2184A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8893 psoriasis no_association ISO RGD:737312 D RGD:8695975|PMID:12029499 20140807 RGD DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy IEP D RGD:7244248|PMID:23587252 20130529 RGD protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:1331525|PMID:15118671 19990101 GAD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:7244174|PMID:23091285 20130524 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:8695958|PMID:16969646 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:8695966|PMID:11375354 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:8695967|PMID:22116960 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:7244176|PMID:22475522 20130524 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:8695965|PMID:14704946 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:8695983|PMID:22427038 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy severity ISO RGD:737312 D RGD:8695958|PMID:16969646 20140807 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737312 D RGD:7244175|PMID:19542745 20130524 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy treatment IDA D RGD:7244369|PMID:23146804 20130604 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:737313 D RGD:8695979|PMID:22171162 20140807 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2325645|PMID:20195207 20100604 RGD protein:increased expression:spinal cord (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000040 Hypertrophy ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19553346 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000310 Lung Injury IEP D RGD:7245945|PMID:22093994 20130613 RGD associated with Hyperoxia; mRNA, protein:increased expression:lung (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000438 Subarachnoid Hemorrhage IEP D RGD:8696000|PMID:24291745 20140808 RGD mRNA, protein:increased expression:brain 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000528 Coronary Disease ISO RGD:737312 D RGD:7244134|PMID:20685687 20130522 RGD associated with Heart Failure; protein:increased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737312 D RGD:7243186|PMID:23396398 20130513 RGD protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000784 Fibrosis IDA D RGD:1625346|PMID:12874465 20070604 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000815 Aortic Calcification IEP D RGD:7244260|PMID:23497312 20130530 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000998 Brain Injuries IEP D RGD:7245557|PMID:22491548 20130611 RGD protein:increased expression:brain (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000998 Brain Injuries ISO RGD:737313 D RGD:7245513|PMID:22915134 20130610 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9000998 Brain Injuries ISO RGD:737313 D RGD:8696001|PMID:24859607 20140808 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9001542 Albuminuria ISO RGD:737312 D RGD:7243944|PMID:21607631 20130521 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9001542 Albuminuria ISO RGD:737313 D RGD:7244135|PMID:20627935 20130522 RGD associated with Diabetic Nephropathies 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9001542 Albuminuria treatment IDA D RGD:7244184|PMID:21796806 20130528 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737312 D RGD:5508825|PMID:21663912 20120711 RGD protein:increased expression:serum (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002153 Chronic Allograft Dysfunction treatment IEP D RGD:7245568|PMID:22217518 20140408 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002153 Chronic Allograft Dysfunction treatment IEP D RGD:8695995|PMID:23769041 20140808 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002159 Liver Reperfusion Injury IEP D RGD:10402078|PMID:21431875 20151015 RGD mRNA:increased expression:liver 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2325651|PMID:19142024 20100604 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:7244174|PMID:23091285 20130524 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:8695982|PMID:14747204 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737313 D RGD:7243248|PMID:12651605 20180125 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:renal cortex (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737312 D RGD:7244187|PMID:21533139 20130528 RGD associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:7243852|PMID:21856399 20130516 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737313 D RGD:7243248|PMID:12651605 20130514 RGD associated with Diabetes Mellitus, Type 2 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002211 Hyperalgesia ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002211 Hyperalgesia treatment IEP D RGD:7364865|PMID:24077211 20140808 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002211 Hyperalgesia treatment IMP D RGD:8695980|PMID:25014009 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:8696002|PMID:24599045 20140808 RGD protein:increased expression:heart 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002488 Peritoneal Fibrosis treatment IDA D RGD:7244162|PMID:19759273 20130523 RGD associated with Diabetic Nephropathies 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9002514 Neointima treatment ISO RGD:737312 D RGD:8695998|PMID:24132651 20140808 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9003139 Cardiac Fibrosis IEP D RGD:7245957|PMID:21802905 20130617 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9003139 Cardiac Fibrosis treatment IEP D RGD:8696003|PMID:24630381 20140808 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9004464 Skin Neoplasms ISO RGD:737313 D RGD:8695988|PMID:18208974 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9004484 Sepsis treatment IMP D RGD:10402067|PMID:19623040 20151014 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9004610 Acute Lung Injury IEP D RGD:7244254|PMID:23576805 20130530 RGD associated with Hyperoxia; protein:decreased expression:bronchoalveolar lavage fluid (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737312 D RGD:7243956|PMID:21470837 20130521 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005172 Lung Neoplasms ISO RGD:737312 D RGD:1331525|PMID:15118671 19990101 GAD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:11554173 20210707 CTD CTD Direct Evidence: marker/mechanism PMID:22178603|PMID:33075463 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:6767557|PMID:21906738 20130516 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625335|PMID:16283249 20070604 RGD protein:increased expression:lacrimal gland 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737313 D RGD:7243964|PMID:20801062 20130521 RGD mRNA:increased expression:renal cortex (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:7245558|PMID:22476978 20130611 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737313 D RGD:7244188|PMID:21458563 20130528 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005873 Tongue Neoplasms treatment IDA D RGD:1625338|PMID:17374970 20070604 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9005968 Neuralgia ISO RGD:737312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006182 Carotid Artery Injuries IMP D RGD:7245963|PMID:21680901 20130617 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006285 Epidermal Hyperplasia ISO RGD:737313 D RGD:8695988|PMID:18208974 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737312 D RGD:7243940|PMID:21643645 20130521 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737313 D RGD:7243959|PMID:21099228 20130521 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:737313 D RGD:7245562|PMID:22305260 20130611 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:7244283|PMID:23251674 20130531 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:7244283|PMID:23251674 20130531 RGD associated with Diabetes Mellitus, Experimental; 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9007096 Stroke susceptibility ISO RGD:737312 D RGD:1625333|PMID:16728681 20070604 RGD DNA:polymorphism:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9007096 Stroke treatment IDA D RGD:7245961|PMID:21683770 20130617 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:737312 D RGD:8695969|PMID:15896660 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9007480 Hyperoxia IEP D RGD:1625339|PMID:17343756 20070604 RGD protein:decreased expression:lung 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9007480 Hyperoxia treatment IEP D RGD:7245514|PMID:22883037 20130610 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:1625342|PMID:16505177 20070604 RGD protein:increased expression:heart (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9008212 Diabetic Foot ISO RGD:737312 D RGD:6767555|PMID:21941211 20120711 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:8695964|PMID:18058469 20140807 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:8695984|PMID:24619131 20140807 RGD DNA:SNP, haplotype: :rs184003 (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9008939 Breast Neoplasms no_association ISO RGD:737312 D RGD:8695989|PMID:22497255 20140807 RGD DNA:SNPs, insertion/deletion:promoter, :-374T>A, -429T/C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9065 leishmaniasis ISO RGD:737313 D RGD:8695986|PMID:25014011 20140807 RGD protein:increased expression:brain 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:737312 D RGD:6767309|PMID:22513366 20120709 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9351 diabetes mellitus susceptibility ISO RGD:737312 D RGD:7243186|PMID:23396398 20130513 RGD protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus IDA D RGD:7244245|PMID:19735169 20130529 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7244262|PMID:23403079 20130530 RGD protein:increased expression:jejunum, intestinal villi (rat) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:8548676|PMID:21067572 20140807 RGD DNA:SNP: :557G>A (rs2070600, p.G82S) (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:8695991|PMID:11884895 20140807 RGD DNA:SNP: :2245A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:8695962|PMID:22154374 20140807 RGD DNA:SNPs:promoter:-374T>A, -429T/C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:8695969|PMID:15896660 20140807 RGD DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:8695991|PMID:11884895 20140807 RGD DNA:SNP: :1704G>T, 2184A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737313 D RGD:7243184|PMID:23630304 20130513 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9540 vascular skin disease no_association ISO RGD:737312 D RGD:8695968|PMID:11457670 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms, insertion, deletion:multiple (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9540 vascular skin disease susceptibility ISO RGD:737312 D RGD:8695968|PMID:11457670 20140807 RGD associated with Diabetes Mellitus, Type 2;DNA:mutation, SNPs:exon, intron:pG82S, 1704G>T, 2184A>G (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9675 pulmonary emphysema ISO RGD:737312 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30659203 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737312 D RGD:8695978|PMID:16364297 20140807 RGD protein:increased expression:vitreous humor 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9743 diabetic neuropathy treatment ISO RGD:737313 D RGD:8695979|PMID:22171162 20140807 RGD associated with Diabetes Mellitus, Experimental 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:7244183|PMID:21870072 20130528 RGD protein:decreased expression:serum (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:8695958|PMID:16969646 20140807 RGD DNA:SNP:promoter:-374T>A (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:8695961|PMID:10553500 20140807 RGD DNA:SNP, haplotype: :557G>A (p.G82S) (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:2325657|PMID:18420491 20100604 RGD 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:7243937|PMID:21738623 20130521 RGD protein:increased expression:renal cortex (mouse) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9970 obesity ISO RGD:737312 D RGD:7243250|PMID:22761461 20130514 RGD protein:decreased expression:plasma (human) 69258 Ager advanced glycosylation end product-specific receptor gene DOID:9970 obesity ISO RGD:737313 D RGD:7243247|PMID:23046363 20130514 RGD 69259 Axin2 axin 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349667 D RGD:151356508|PMID:11809809 20220208 RGD protein:increased expression:mucosa: 69259 Axin2 axin 2 gene DOID:0050567 orofacial cleft ISO RGD:1349667 D RGD:151356509|PMID:19119171 20220208 RGD DNA:SNP:cds:rs2240308(p.P50S)(human) 69259 Axin2 axin 2 gene DOID:0050591 tooth agenesis ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:15042511|PMID:21416598|PMID:21626677|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:28492532|PMID:28944238|PMID:29371908|PMID:30374176 69259 Axin2 axin 2 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1349667 D RGD:151356656|PMID:33046030 20220209 RGD 69259 Axin2 axin 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349667 D RGD:151356656|PMID:33046030 20220209 RGD 69259 Axin2 axin 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1349667 D RGD:150530486|PMID:21393552 20211213 RGD DNA:SNP:intron: C>T (rs3923087)(human) 69259 Axin2 axin 2 gene DOID:0050912 colon adenoma ISO RGD:1349667 D RGD:151356508|PMID:11809809 20220208 RGD protein:increased expression:: 69259 Axin2 axin 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1349667 D RGD:151356501|PMID:23702820 20220208 RGD protein,RNA:increased expression:colorectum: 69259 Axin2 axin 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1349667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15042511|PMID:16199547|PMID:21416598|PMID:25741868|PMID:28492532 69259 Axin2 axin 2 gene DOID:0111349 hereditary desmoid disease ISO RGD:1349667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibromatosis, familial infiltrative PMID:25741868|PMID:28492532 69259 Axin2 axin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:27696107|PMID:28492532|PMID:29641532 69259 Axin2 axin 2 gene DOID:12930 dilated cardiomyopathy IEP D RGD:151356921|PMID:33092439 20220216 RGD protein:decreased expression:lung 69259 Axin2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349667 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 69259 Axin2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:151356504|PMID:28378643 20220208 RGD DNA:SNPs:exons,introns: 69259 Axin2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:151356659|PMID:25091576 20220209 RGD DNA:SNP:exon:148T>C(rs2240308)(human) 69259 Axin2 axin 2 gene DOID:13714 anodontia ISO RGD:1349667 D RGD:8554872 20151117 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:26406231 69259 Axin2 axin 2 gene DOID:14330 Parkinson's disease ameliorates IMP D RGD:151356747|PMID:31078578 20220215 RGD 69259 Axin2 axin 2 gene DOID:1520 colon carcinoma ISO RGD:1349667 D RGD:151356508|PMID:11809809 20220208 RGD protein:increased expression:colon mucosa: 69259 Axin2 axin 2 gene DOID:1520 colon carcinoma ISO RGD:1349667 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11017067|PMID:15042511|PMID:21416598|PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29641532 69259 Axin2 axin 2 gene DOID:1612 breast cancer ISO RGD:1349667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:21541676|PMID:25236910|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524 69259 Axin2 axin 2 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:151356749|PMID:31650542 20220215 RGD 69259 Axin2 axin 2 gene DOID:2340 craniosynostosis ISO RGD:1349667 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 69259 Axin2 axin 2 gene DOID:2340 craniosynostosis ISS RGD:735540 D RGD:13592920 20180518 MouseDO OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 69259 Axin2 axin 2 gene DOID:2394 ovarian cancer ISO RGD:1349667 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:29641532|PMID:30262796 69259 Axin2 axin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1349667 D RGD:13432156|PMID:11940574 20170921 RGD 69259 Axin2 axin 2 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1349667 D RGD:151356500|PMID:26715268 20220208 RGD DNA:SNP::s4791171(human) 69259 Axin2 axin 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1349667 D RGD:151356655|PMID:30346805 20220211 RGD DNA:SNPs::1712 +19 G>A,148 C>T(human) 69259 Axin2 axin 2 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349667 D RGD:151356657|PMID:16820935 20220209 RGD DNA:SNP:cds:p.P50S(human) 69259 Axin2 axin 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1349667 D RGD:151356655|PMID:30346805 20220211 RGD DNA:SNP::1386 C>T(human) 69259 Axin2 axin 2 gene DOID:630 genetic disease ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69259 Axin2 axin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349667 D RGD:151356508|PMID:11809809 20220208 RGD protein:increased expression:liver: 69259 Axin2 axin 2 gene DOID:687 hepatoblastoma ISO RGD:1349667 D RGD:151356508|PMID:11809809 20220208 RGD protein:increased expression:liver: 69259 Axin2 axin 2 gene DOID:9000156 Metaplasia ISO RGD:735540 D RGD:1643593|PMID:16488995 20080729 RGD associated with Granulosa Cell Tumor;mRNA:increased expression:ovary 69259 Axin2 axin 2 gene DOID:9000945 Ventilator-Induced Lung Injury IEP D RGD:9685370|PMID:21935365 20220216 RGD 69259 Axin2 axin 2 gene DOID:9001642 Intestinal Polyps ISO RGD:735540 D RGD:151356508|PMID:11809809 20220208 RGD protein:increased expression:small intestinal polyps: 69259 Axin2 axin 2 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP D RGD:151356920|PMID:28694128 20220216 RGD 69259 Axin2 axin 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349667 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 69259 Axin2 axin 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349667 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 69259 Axin2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:9536098 69259 Axin2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:9536098 69259 Axin2 axin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349667 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 69259 Axin2 axin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1349667 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 69259 Axin2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:7240710 20130221 OMIM 69259 Axin2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:9536098 69259 Axin2 axin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1349667 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 69259 Axin2 axin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349667 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 69259 Axin2 axin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349667 D RGD:2293188|PMID:18432252 20080520 RGD 69259 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:7240710 20200226 OMIM 69259 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27696107|PMID:28492532|PMID:29371908|PMID:29641532 69259 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15042511|PMID:21416598|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33558524|PMID:33725141|PMID:34817745 69259 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28717660|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653|PMID:33558524|PMID:33725141|PMID:34817745 69259 Axin2 axin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349667 D RGD:151356510|PMID:31632692 20220208 RGD DNA:SNP::rs2240308, c.148G>A(human) 69259 Axin2 axin 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1349667 D RGD:151356662|PMID:29534875 20220209 RGD 69259 Axin2 axin 2 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1349667 D RGD:151356661|PMID:28939076 20220209 RGD 69260 Ahcy adenosylhomocysteinase gene DOID:0050544 hypermethioninemia ISO RGD:731745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26974671 69260 Ahcy adenosylhomocysteinase gene DOID:0050544 hypermethioninemia ISO RGD:731745 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hypermethioninemia PMID:25741868 69260 Ahcy adenosylhomocysteinase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:731745 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29127188 69260 Ahcy adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:7240710 20180103 OMIM 69260 Ahcy adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:16736098|PMID:16872278|PMID:17576681|PMID:18211827|PMID:19177456|PMID:19619139|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517|PMID:9536098 69260 Ahcy adenosylhomocysteinase gene DOID:10763 hypertension ISO RGD:736014 D RGD:1601153|PMID:16815886 20070409 RGD associated with hyperhomocysteinemia 69260 Ahcy adenosylhomocysteinase gene DOID:2843 long QT syndrome ISO RGD:731745 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 69260 Ahcy adenosylhomocysteinase gene DOID:3910 lung adenocarcinoma ISO RGD:731745 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69260 Ahcy adenosylhomocysteinase gene DOID:630 genetic disease ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15024124|PMID:16736098|PMID:16872278|PMID:18211827|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517 69260 Ahcy adenosylhomocysteinase gene DOID:8455 pyridoxine deficiency anemia IDA D RGD:1598897|PMID:11575573 20061220 RGD 69260 Ahcy adenosylhomocysteinase gene DOID:893 Wilson disease ISO RGD:731745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 69260 Ahcy adenosylhomocysteinase gene DOID:9000884 Rhabdomyolysis ISO RGD:731745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:15024124|PMID:16736098|PMID:16872278|PMID:18211827|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517 69260 Ahcy adenosylhomocysteinase gene DOID:9002457 Experimental Arthritis IDA D RGD:1598898|PMID:11123369 20061220 RGD 69260 Ahcy adenosylhomocysteinase gene DOID:9002669 Hypoxia ISO RGD:731745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 69260 Ahcy adenosylhomocysteinase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:731745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM PMID:28492532 69260 Ahcy adenosylhomocysteinase gene DOID:9006205 Animal Disease Models ISO RGD:731745 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69260 Ahcy adenosylhomocysteinase gene DOID:9008294 Skin/Hair/Eye Pigmentation, Variation In, 9 ISO RGD:731745 D RGD:8554872 20150407 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 69260 Ahcy adenosylhomocysteinase gene DOID:9252 amino acid metabolic disorder ISO RGD:731745 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15024124 69260 Ahcy adenosylhomocysteinase gene DOID:9279 hyperhomocysteinemia IDA D RGD:1598896|PMID:12208805 20061220 RGD 69261 Cish cytokine inducible SH2-containing protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 69261 Cish cytokine inducible SH2-containing protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:735426 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 69261 Cish cytokine inducible SH2-containing protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 69261 Cish cytokine inducible SH2-containing protein gene DOID:12365 malaria ISO RGD:735426 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 69261 Cish cytokine inducible SH2-containing protein gene DOID:12365 malaria ISO RGD:735426 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 69261 Cish cytokine inducible SH2-containing protein gene DOID:12365 malaria susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 69261 Cish cytokine inducible SH2-containing protein gene DOID:3042 allergic contact dermatitis ISO RGD:735426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 69261 Cish cytokine inducible SH2-containing protein gene DOID:399 tuberculosis ISO RGD:735426 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 69261 Cish cytokine inducible SH2-containing protein gene DOID:399 tuberculosis ISO RGD:735426 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 69261 Cish cytokine inducible SH2-containing protein gene DOID:399 tuberculosis susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 69261 Cish cytokine inducible SH2-containing protein gene DOID:630 genetic disease ISO RGD:735426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69261 Cish cytokine inducible SH2-containing protein gene DOID:9005036 Bacteremia ISO RGD:735426 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 69261 Cish cytokine inducible SH2-containing protein gene DOID:9005036 Bacteremia ISO RGD:735426 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 69261 Cish cytokine inducible SH2-containing protein gene DOID:9005036 Bacteremia susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:10763 hypertension IEP D RGD:2301363|PMID:6726227 20081008 RGD protein:decreased expression:brain 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:12849 autistic disorder ISO RGD:737394 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:630 genetic disease ISO RGD:737394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737394 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 69262 Cdo1 cysteine dioxygenase type 1 gene DOID:9970 obesity ISO RGD:737395 D RGD:2301355|PMID:16627576 20081008 RGD 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:1059 intellectual disability ISO RGD:1344886 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:10652 Alzheimer's disease ISO RGD:1344886 D RGD:2317734|PMID:15337312 20100420 RGD protein:decreased expression:cerebral cortex (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer ISO RGD:1344886 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:28492532 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344886 D RGD:2317733|PMID:18638378 20100420 RGD DNA:snp:3' utr:c.2501A>G rs2155209 (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:12704 ataxia telangiectasia ISO RGD:1344886 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:1380 endometrial cancer ISO RGD:1344886 D RGD:2317737|PMID:15048091 20100420 RGD DNA:deletions:intron:IVS4_delT (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:1993 rectum cancer susceptibility ISO RGD:1344886 D RGD:151361212|PMID:26735576 20220301 RGD DNA:SNP:3'utr: (rs2155209) (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:219 colon cancer susceptibility ISO RGD:1344886 D RGD:151361212|PMID:26735576 20220301 RGD DNA:SNP:3'utr: (rs2155209) (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:2394 ovarian cancer ISO RGD:1344886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:3069 malignant astrocytoma severity ISO RGD:1344886 D RGD:2317736|PMID:17034947 20100420 RGD mRNA:decreased expression:brain tumor (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:3459 breast carcinoma ISO RGD:1344886 D RGD:2300250|PMID:14511253 20100420 RGD protein:decreased expression:tumor (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:3459 breast carcinoma ISO RGD:1344886 D RGD:2317721|PMID:19383352 20100419 RGD DNA:polymorphisms:intron, exon:multiple (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:3459 breast carcinoma ISO RGD:1344886 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:23080121|PMID:23912341|PMID:28492532 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:3883 Lynch syndrome ISO RGD:1344886 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:3910 lung adenocarcinoma ISO RGD:735478 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5426 primary ovarian insufficiency ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532|PMID:30924587 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:543 dystonia ISO RGD:1344886 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5517 stomach carcinoma ISO RGD:1344886 D RGD:2317738|PMID:15319296 20100420 RGD DNA:deletions:intron:IVS4_delT (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:11196167|PMID:23912341|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26898890|PMID:28492532|PMID:32566746|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24763289|PMID:24894818|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:29478780|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33471991|PMID:33479248|PMID:36091175|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:630 genetic disease ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1344886 D RGD:2317722|PMID:15574463 20100419 RGD DNA:missense mutation:cds:W210C (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9002304 Prostatic Neoplasms ISO RGD:735478 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9002928 Colonic Neoplasms ISO RGD:1344886 D RGD:2317740|PMID:11850399 20100420 RGD DNA:deletions:intron:IVS4_delT (human) 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9002928 Colonic Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23080121|PMID:23912341|PMID:25452441|PMID:25741868|PMID:26556299|PMID:27329137|PMID:28492532|PMID:31033087 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:1344886 D RGD:11554173 20170822 CTD CTD Direct Evidence: marker/mechanism 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:18854157|PMID:19383352|PMID:19732584|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20805886|PMID:21227757|PMID:21252998|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22406018|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9006205 Animal Disease Models ISO RGD:735478 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1344886 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:31159747|PMID:31273614|PMID:32566746|PMID:32658311|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:31159747|PMID:31273614|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33134171|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007720 Ataxia-Telangiectasia-Like Disorder 1 ISO RGD:1344886 D RGD:7240710 20130221 OMIM 69263 Mre11 MRE11 homolog, double strand break repair nuclease gene DOID:9007720 Ataxia-Telangiectasia-Like Disorder 1 ISO RGD:1344886 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:15574463|PMID:16199547|PMID:16858402|PMID:18652530|PMID:18854157|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:21252998|PMID:21324166|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25326635|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27124789|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28559769|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30306255|PMID:30441849|PMID:30613976|PMID:31033087|PMID:31159747|PMID:31780696|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33098801|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9845372 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17173049|PMID:18252227 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:17173049|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:732251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:7240710 20140911 OMIM 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED | ClinVar Annotator: match by term: SHANK3-Related Disorder | ClinVar Annotator: match by term: Schizophrenia 15 PMID:20385823|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:30763456 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome IMP D RGD:41404704|PMID:28139198 20210204 RGD 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284256 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:7240710 20130731 OMIM 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:17173049|PMID:20301377|PMID:21062623|PMID:22892527|PMID:23758743|PMID:24033266|PMID:24759409|PMID:25188300|PMID:25356970|PMID:25724810|PMID:25741868|PMID:27554343|PMID:28135719|PMID:29719671|PMID:30537371|PMID:30763456|PMID:32015180|PMID:32382396 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:1059 intellectual disability ISO RGD:732251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284256 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:1059 intellectual disability ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20385823|PMID:25167861|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:31690835|PMID:32581362 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:732251 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:18621663|PMID:26027926|PMID:35982159 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:732251 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:13938 amenorrhea ISO RGD:732251 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2468 psychotic disorder ISO RGD:732251 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Psychotic disorder PMID:24759409|PMID:25741868 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2843 long QT syndrome ISO RGD:732251 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732251 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:732251 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431708|PMID:11733747|PMID:12920066|PMID:15458844|PMID:16439662|PMID:17173049|PMID:17999366|PMID:18414213|PMID:18615476|PMID:20385823|PMID:21378602|PMID:22670140|PMID:22892527|PMID:23472757|PMID:23495017|PMID:23533028|PMID:24033266|PMID:25188300|PMID:25356970|PMID:25621899|PMID:25724810|PMID:25741868|PMID:26045941|PMID:26185613|PMID:26467025|PMID:26544041|PMID:27118998|PMID:27554343|PMID:28135719|PMID:28371232|PMID:29719671|PMID:30763456|PMID:32581362 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732251 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17173049|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9005466 Language Development Disorders ISO RGD:732251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284256|PMID:17173049 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732251 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284256 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 69264 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008165 Chromosome Deletion ISO RGD:732251 D RGD:1599213|PMID:12920066 20070119 RGD 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:733329 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:733329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:28492532 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:7240710 20141022 OMIM 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29691679|PMID:30652007|PMID:35471564|PMID:9536098 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:733329 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:733329 D RGD:9685457|PMID:17469012 20150109 RGD protein:decreased expression:abdominal fascia: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1459 hypothyroidism IEP D RGD:9685476|PMID:15811553 20150113 RGD mRNA,protein:increased expression,increased activity:hippocampus: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1852 intrahepatic cholestasis IEP D RGD:9685454|PMID:11383876 20150109 RGD protein:decreased activity,altered location:liver: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:224 transient cerebral ischemia IEP D RGD:9685492|PMID:9634555 20150113 RGD mRNA:increased expression:brain: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:3213 demyelinating disease IEP D RGD:9685485|PMID:17239402 20150113 RGD 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:733329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9001036 Penetrating Head Injuries IEP D RGD:9685448|PMID:16672190 20150109 RGD protein:increased expression,increased activity:cerebral cortex: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002514 Neointima treatment ISO RGD:733329 D RGD:9685444|PMID:18485080 20150109 RGD 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression IEP D RGD:9685491|PMID:19524108 20150113 RGD 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004283 Transplant Rejection ISO RGD:733330 D RGD:9685445|PMID:10656876 20150109 RGD 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004484 Sepsis IEP D RGD:9685487|PMID:22645477 20150113 RGD protein:increased activity:lymphocyte: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9685473|PMID:18687327 20150113 RGD protein,mRNA:increased expression:glial cell, retina: 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9685486|PMID:17119848 20150113 RGD protein:enzyme activity:platelet 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005725 Iron Overload IEP D RGD:9685486|PMID:17119848 20150113 RGD protein:enzyme activity:platelet 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733329 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 69265 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008217 Hemorrhage ISO RGD:733330 D RGD:735004|PMID:10470077 19990101 RGD 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0050777 Joubert syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:10763 hypertension IEP D RGD:9685529|PMID:20655932 20150114 RGD 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15651265 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9685530|PMID:15651265 20150114 RGD 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:1826 epilepsy ISO RGD:733255 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3070 high grade glioma ISO RGD:733255 D RGD:9685528|PMID:19558578 20150114 RGD 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3652 Leigh disease ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:5082 liver cirrhosis ISO RGD:733255 D RGD:9685530|PMID:15651265 20150114 RGD associated with hepatitis C 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:630 genetic disease ISO RGD:733255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:9685530|PMID:15651265 20150114 RGD 69266 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:731751 D RGD:1624273|PMID:9171822 20070507 RGD iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:731751 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10487695|PMID:3998954 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:731751 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:7240710 20130221 OMIM 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 PMID:10487695|PMID:10902780|PMID:12161518|PMID:21565787|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32805706|PMID:3451231|PMID:3998954|PMID:9171822|PMID:9388506|PMID:9398697|PMID:9486973|PMID:9657379|PMID:9709973|PMID:9745458|PMID:9814502 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:13938 amenorrhea ISO RGD:731751 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:14566 disease of cellular proliferation ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15522214 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:1909 melanoma ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12489024 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:3070 high grade glioma ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12489024 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:4947 cholangiocarcinoma ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17408651 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:630 genetic disease ISO RGD:731751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15347726|PMID:15520214 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12489024 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12489024|PMID:14633711 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12489024 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:731751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16954431|PMID:17045167 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:731751 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12489024 69267 Slc5a5 solute carrier family 5 member 5 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 69269 Snurf SNRPN upstream open reading frame gene DOID:0060041 autism spectrum disorder ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 69269 Snurf SNRPN upstream open reading frame gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 69269 Snurf SNRPN upstream open reading frame gene DOID:11983 Prader-Willi syndrome ISO RGD:736038 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 69269 Snurf SNRPN upstream open reading frame gene DOID:12849 autistic disorder ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 69269 Snurf SNRPN upstream open reading frame gene DOID:1932 Angelman syndrome ISO RGD:736038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 69269 Snurf SNRPN upstream open reading frame gene DOID:5419 schizophrenia ISO RGD:736038 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69269 Snurf SNRPN upstream open reading frame gene DOID:630 genetic disease ISO RGD:736038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69269 Snurf SNRPN upstream open reading frame gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736038 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:30192042 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:7240710 20190315 OMIM 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 PMID:25741868|PMID:27569547|PMID:28492532 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1348839 D RGD:7240710 20131030 OMIM 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:0111201 distal hereditary motor neuronopathy type 7A ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:11294660|PMID:16199547|PMID:17576681|PMID:23141292|PMID:25741868|PMID:27569547|PMID:28492532|PMID:7420092|PMID:9536098 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1348839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:10283 prostate cancer ISO RGD:1348839 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348839 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11294660|PMID:23141292|PMID:7420092 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:12377 spinal muscular atrophy ISO RGD:1348839 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:1470 major depressive disorder ISO RGD:1348839 D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:1596 depressive disorder ISO RGD:1348839 D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula: 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:2841 asthma IEP D RGD:5686690|PMID:17328924 20150416 RGD mRNA:decreased expression:lung 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1348839 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:630 genetic disease ISO RGD:1348839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:9536098 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1348839 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 69270 Slc5a7 solute carrier family 5 member 7 gene DOID:9004283 Transplant Rejection IEP D RGD:9999387|PMID:19201987 20150416 RGD protein:increased expression:kidney, mononuclear cell 69271 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436254|PMID:18728071 69271 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:7240710 20130221 OMIM 69271 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:28166811|PMID:28492532|PMID:28554332|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28807867|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 69271 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 69271 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 69271 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22678594|PMID:22777675|PMID:22934316|PMID:23020937|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25693842|PMID:25741868|PMID:25780760|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29158550|PMID:29318938|PMID:29322350|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:31785789|PMID:31981491|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:33767182|PMID:34128147|PMID:34837432|PMID:9536098 69271 Tcf4 transcription factor 4 gene DOID:0110241 cataract 41 ISO RGD:732921 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 41 PMID:25741868 69271 Tcf4 transcription factor 4 gene DOID:10485 esophageal atresia ISO RGD:732921 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:28492532 69271 Tcf4 transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:12032737|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18728071|PMID:19235238|PMID:22045651|PMID:22460224|PMID:22777675|PMID:25167861|PMID:25741868|PMID:26621827|PMID:26993267|PMID:28492532|PMID:29318938|PMID:33624935 69271 Tcf4 transcription factor 4 gene DOID:10907 microcephaly ISO RGD:732921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18728071 69271 Tcf4 transcription factor 4 gene DOID:10907 microcephaly ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18728071|PMID:21671391|PMID:22045651|PMID:22460224|PMID:25741868|PMID:28492532|PMID:28708303|PMID:29655203|PMID:29695756|PMID:32581362 69271 Tcf4 transcription factor 4 gene DOID:114 heart disease ISO RGD:732921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 69271 Tcf4 transcription factor 4 gene DOID:1826 epilepsy ISO RGD:732921 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 69271 Tcf4 transcription factor 4 gene DOID:2303 stereotypic movement disorder ISO RGD:732921 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868 69271 Tcf4 transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:732921 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 69271 Tcf4 transcription factor 4 gene DOID:5419 schizophrenia ISS RGD:735359 D RGD:13592920 20180518 MouseDO OMIM:181500 69271 Tcf4 transcription factor 4 gene DOID:574 peripheral nervous system disease ISO RGD:732921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 69271 Tcf4 transcription factor 4 gene DOID:630 genetic disease ISO RGD:732921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032737|PMID:12848929|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18414213|PMID:18728071|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22040220|PMID:22045651|PMID:22460224|PMID:22777675|PMID:23033978|PMID:24126932|PMID:25167861|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:27179618|PMID:28492532|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:32581362|PMID:33624935 69271 Tcf4 transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69271 Tcf4 transcription factor 4 gene DOID:9003132 Sialorrhea ISO RGD:732921 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Drooling PMID:25741868 69271 Tcf4 transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732921 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 69271 Tcf4 transcription factor 4 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732921 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 69271 Tcf4 transcription factor 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732921 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 69271 Tcf4 transcription factor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:732921 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 69271 Tcf4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:7240710 20150805 OMIM 69271 Tcf4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 PMID:18414213|PMID:18728071|PMID:25741868|PMID:26467025|PMID:28492532 69271 Tcf4 transcription factor 4 gene DOID:9008086 Developmental Disabilities ISO RGD:732921 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22678594|PMID:25741868|PMID:25741890|PMID:34128147|PMID:34837432 69271 Tcf4 transcription factor 4 gene DOID:9008582 Developmental Disease ISO RGD:732921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 69271 Tcf4 transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436254 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:0050827 rheumatic heart disease treatment IEP D RGD:151347417|PMID:31894293 20220120 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:0050861 colorectal adenocarcinoma no_association ISO RGD:1347441 D RGD:150573690|PMID:25339048 20220106 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1347441 D RGD:2298909|PMID:12888825 20080731 RGD mRNA:increased expression:breast 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:0060180 colitis ISO RGD:732457 D RGD:150573704|PMID:16717119 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:0080199 colorectal carcinoma ISO RGD:732457 D RGD:150573704|PMID:16717119 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:10283 prostate cancer ISO RGD:1347441 D RGD:2290486|PMID:16458425 20080731 RGD DNA:hypermethylation 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer ISO RGD:1347441 D RGD:2298903|PMID:17522834 20080731 RGD DNA:hypermethylation 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347441 D RGD:2298906|PMID:16242928 20080731 RGD DNA:hypermethylation:promoter 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:12351 alcoholic hepatitis IEP D RGD:151347420|PMID:32317960 20220120 RGD mRNA:decreased expression:liver 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:732457 D RGD:150573701|PMID:19469017 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:1909 melanoma ameliorates ISO RGD:732457 D RGD:150573701|PMID:19469017 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:219 colon cancer ameliorates ISO RGD:732457 D RGD:150573701|PMID:19469017 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:151347423|PMID:33081480 20220120 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:2600 laryngeal carcinoma severity ISO RGD:1347441 D RGD:150573814|PMID:20164024 20220112 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1347441 D RGD:2298909|PMID:12888825 20080731 RGD mRNA:increased expression:breast 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1347441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347441 D RGD:150573815|PMID:31728180 20220112 RGD mRNA:decreased expression:esophagus 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1347441 D RGD:150573691|PMID:21385099 20220106 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732457 D RGD:150573812|PMID:28233302 20220112 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347441 D RGD:150573699|PMID:31910343 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:4001 ovarian carcinoma ISO RGD:1347441 D RGD:2298907|PMID:15361843 20080731 RGD DNA:hypermethylation 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:409 liver disease ISO RGD:1347441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:5041 esophageal cancer ISO RGD:1347441 D RGD:151232285|PMID:33862112 20220113 RGD mRNA,protein:decreased expression:esophagus: 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:732457 D RGD:150573810|PMID:30097285 20220112 RGD associated with Chemical and Drug Induced Liver Injury; 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347441 D RGD:2298904|PMID:16878360 20080731 RGD mRNA:decreased expression:uterine cervix 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:5812 MHC class II deficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:5844 myocardial infarction IEP D RGD:2298918|PMID:16377761 20080731 RGD protein:increased expression:heart 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:630 genetic disease ISO RGD:1347441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma IEP D RGD:150573689|PMID:18843197 20220106 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:150573687|PMID:14614012 20220106 RGD associated with liver cirrhosis;DNA:altered methylation:liver: 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:150573700|PMID:15235874 20220110 RGD DNA:hypermethylation:CpG island, 5'untranslated region: 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1347441 D RGD:150573703|PMID:22318090 20220110 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1347441 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia PMID:32853638|PMID:33087723 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura | ClinVar Annotator: match by term: Idiopathic thrombocytopenic purpura PMID:32853638|PMID:33087723 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347441 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:7240710 20210707 OMIM 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY PMID:25741868|PMID:32499645|PMID:32853638|PMID:33087723 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9002165 Diabetic Nephropathies treatment IDA D RGD:151347182|PMID:31599432 20220118 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1347441 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25780291 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis IEP D RGD:2298924|PMID:12644450 20080801 RGD protein:increased expression:gastrocnemius 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis IEP D RGD:634751|PMID:11312157 20080731 RGD mRNA:increased expression:liver 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347441 D RGD:21079418|PMID:20354188 20200214 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732457 D RGD:2298899|PMID:18381452 20080731 RGD mRNA:increased expression:mammary gland 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9005647 Experimental Autoimmune Uveitis ameliorates ISO RGD:732457 D RGD:151232288|PMID:24993154 20220113 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9005930 Endotoxemia ISO RGD:732457 D RGD:2298923|PMID:15169905 20080801 RGD mRNA:increased expression:liver, skeletal muscle 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9005968 Neuralgia treatment IEP D RGD:151347419|PMID:27059231 20220120 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732457 D RGD:1625677|PMID:15240880 20080801 RGD associated with Obesity 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9007204 Dysbiosis ISO RGD:732457 D RGD:150573685|PMID:30820436 20220106 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9007692 Insulin Resistance ISO RGD:732457 D RGD:1625677|PMID:15240880 20080801 RGD associated with Diabetes Mellitus 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment IEP D RGD:151347179|PMID:27538408 20220118 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9008907 Immuno-Hemolytic Anemia ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Immuno-hemolytic anemia PMID:32853638|PMID:33087723 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347441 D RGD:2298907|PMID:15361843 20080731 RGD DNA:hypermethylation 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347441 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:33087723 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:732457 D RGD:150573686|PMID:14499118 20220106 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1347441 D RGD:150573811|PMID:12759928 20220112 RGD DNA:hypermethylation: : 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347441 D RGD:150573688|PMID:27133036 20220106 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:732457 D RGD:151232286|PMID:15100317 20220113 RGD 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9452 fatty liver disease ISO RGD:732457 D RGD:1625677|PMID:15240880 20080801 RGD associated with Obesity 69272 Socs1 suppressor of cytokine signaling 1 gene DOID:9970 obesity IEP D RGD:2298920|PMID:11027633 20080731 RGD mRNA, protein:increased expression:white fat 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352815 D RGD:2298909|PMID:12888825 20080731 RGD mRNA:increased expression:breast 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:1380 endometrial cancer ISO RGD:1352815 D RGD:2298926|PMID:15159323 20080801 RGD DNA:hypermethylated 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352815 D RGD:2298909|PMID:12888825 20080731 RGD mRNA:increased expression:breast 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1352815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352815 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35305058 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:4001 ovarian carcinoma ISO RGD:1352815 D RGD:2298907|PMID:15361843 20080731 RGD DNA:hypermethylation 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:630 genetic disease ISO RGD:1352815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352815 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:8986 narcolepsy ISO RGD:1352815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2298928|PMID:11723173 20080801 RGD 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352815 D RGD:2298925|PMID:16707422 20080801 RGD associated with Prostatic Neoplasms 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352815 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:9004484 Sepsis IEP D RGD:2298924|PMID:12644450 20080801 RGD protein:increased expression:gastrocnemius 69273 Socs2 suppressor of cytokine signaling 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352815 D RGD:2298902|PMID:17651480 20080731 RGD 69274 Casp2 caspase 2 gene DOID:1059 intellectual disability ISO RGD:1604850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 69274 Casp2 caspase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1604850 D RGD:13782269|PMID:12633148 20180830 RGD 69274 Casp2 caspase 2 gene DOID:1824 status epilepticus disease_progression IEP D RGD:4107076|PMID:17627033 20100714 RGD 69274 Casp2 caspase 2 gene DOID:3328 temporal lobe epilepsy disease_progression ISO RGD:1604850 D RGD:4107076|PMID:17627033 20100714 RGD 69274 Casp2 caspase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1604850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 69274 Casp2 caspase 2 gene DOID:630 genetic disease ISO RGD:1604850 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69274 Casp2 caspase 2 gene DOID:9007096 Stroke IEP D RGD:4107080|PMID:12067235 20100714 RGD 69275 Mpeg1 macrophage expressed 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 69275 Mpeg1 macrophage expressed 1 gene DOID:0111152 multicentric Castleman disease ISO RGD:736355 D RGD:8554872 20190924 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 69275 Mpeg1 macrophage expressed 1 gene DOID:0111954 immunodeficiency 60 ISO RGD:736355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868 69275 Mpeg1 macrophage expressed 1 gene DOID:1059 intellectual disability ISO RGD:736355 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69275 Mpeg1 macrophage expressed 1 gene DOID:630 genetic disease ISO RGD:736355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69275 Mpeg1 macrophage expressed 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736355 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 69275 Mpeg1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:7240710 20210324 OMIM 69275 Mpeg1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 77 PMID:25741868|PMID:28422754|PMID:33224153 69276 Snap91 synaptosome associated protein 91 gene DOID:0111953 immunodeficiency 23 ISO RGD:731271 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 69276 Snap91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:731271 D RGD:13506238|PMID:20847448 20180205 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: 69276 Snap91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:735275 D RGD:13506238|PMID:20847448 20180205 RGD denntate gyrus, hippocampus, entorhinal cortex 69276 Snap91 synaptosome associated protein 91 gene DOID:3525 middle cerebral artery infarction IEP D RGD:13461853|PMID:19240038 20171129 RGD protein:increased degradation:brain 69276 Snap91 synaptosome associated protein 91 gene DOID:630 genetic disease ISO RGD:731271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732599 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732599 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:7240710 20180214 OMIM 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:10195214|PMID:12588888|PMID:15079006|PMID:18806275|PMID:25741868|PMID:28492532|PMID:7254233 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:7240710 20130221 OMIM 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A PMID:16685696|PMID:22406191|PMID:22678886|PMID:25741868|PMID:28492532|PMID:29054425|PMID:3651795|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:12849 autistic disorder ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:24121633|PMID:25741868|PMID:26467025|PMID:27748205|PMID:28492532 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:1826 epilepsy ISO RGD:732599 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:24033266|PMID:25450229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33216040|PMID:9221765 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:28492532 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:630 genetic disease ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:9221765 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9000784 Fibrosis ISO RGD:732599 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19690163 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:28492532 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005883 Pleural Effusion ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532|PMID:30177536|PMID:31680349 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:7240710 20130221 OMIM 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:10195214|PMID:14719537|PMID:15907919|PMID:16199547|PMID:17576681|PMID:18252226|PMID:18806275|PMID:22406191|PMID:22728938|PMID:23037934|PMID:24121633|PMID:25348405|PMID:25450229|PMID:25741868|PMID:25741885|PMID:26467025|PMID:27748205|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30177536|PMID:31680349|PMID:33216040|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765|PMID:9536098 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:732599 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:732599 D RGD:704386|PMID:10606626 19990101 RGD 69277 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:732599 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 69278 Sema6b semaphorin 6B gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731900 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868 69278 Sema6b semaphorin 6B gene DOID:0070338 cerebellar hypoplasia ISO RGD:731900 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 69278 Sema6b semaphorin 6B gene DOID:0080600 COVID-19 ISO RGD:731900 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69278 Sema6b semaphorin 6B gene DOID:1059 intellectual disability ISO RGD:731900 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 69278 Sema6b semaphorin 6B gene DOID:12849 autistic disorder ISO RGD:731900 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autism 69278 Sema6b semaphorin 6B gene DOID:13938 amenorrhea ISO RGD:731900 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 69278 Sema6b semaphorin 6B gene DOID:630 genetic disease ISO RGD:731900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69278 Sema6b semaphorin 6B gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:731900 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage PMID:31474318 69278 Sema6b semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:7240710 20200520 OMIM 69278 Sema6b semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 PMID:25741868|PMID:28492532|PMID:32169168|PMID:35604360 69279 Cdh1 cadherin 1 gene DOID:0050567 orofacial cleft ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft PMID:12800196|PMID:20921021|PMID:22470475|PMID:23197654|PMID:24033266|PMID:2449335|PMID:24493355|PMID:24728327|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26467025|PMID:26483394|PMID:26759166|PMID:27146957|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28640387|PMID:28944238|PMID:29348693|PMID:32260281 69279 Cdh1 cadherin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:737413 D RGD:11526681|PMID:26464646 20190111 RGD 69279 Cdh1 cadherin 1 gene DOID:0050938 breast lobular carcinoma ISO RGD:737413 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:8557030|PMID:17660459 69279 Cdh1 cadherin 1 gene DOID:0050938 breast lobular carcinoma ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast lobular carcinoma PMID:15235021|PMID:17660459|PMID:20373070|PMID:24763289|PMID:25186627|PMID:25741868|PMID:26270727|PMID:26467025|PMID:28492532|PMID:36988593|PMID:8557030|PMID:9744472 69279 Cdh1 cadherin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 69279 Cdh1 cadherin 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 69279 Cdh1 cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 69279 Cdh1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:7240710 20190315 OMIM 69279 Cdh1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28301459|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8033105|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:7240710 20200826 OMIM 69279 Cdh1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10439038|PMID:10477433|PMID:10830618|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11443625|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:11996968|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14961571|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16189707|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:17955726|PMID:17979184|PMID:18035404|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18491227|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19268662|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20471195|PMID:20616022|PMID:20624523|PMID:20719348|PMID:20824432|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21432908|PMID:21459793|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21876083|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22118538|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22799331|PMID:22850631|PMID:22875147|PMID:22901170|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23713947|PMID:23752020|PMID:23812922|PMID:24033266|PMID:24037103|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25640679|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26643573|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26901067|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27192129|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27512640|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27624909|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635 69279 Cdh1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28577310|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29231860|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29511593|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30007404|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34299313|PMID:34359559|PMID:34426522|PMID:34503169|PMID:34537906|PMID:34690920|PMID:35089076|PMID:35172483|PMID:35327954|PMID:35418818|PMID:36436516|PMID:36988593|PMID:8033105|PMID:8075649|PMID:8127895|PMID:8557030|PMID:8598933|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 69279 Cdh1 cadherin 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737413 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375 69279 Cdh1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:2289479|PMID:18183597 20080201 RGD 69279 Cdh1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:7240710 20180418 OMIM 69279 Cdh1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:14961571|PMID:15235021|PMID:16061854|PMID:16189707|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737413 D RGD:2289487|PMID:18056176 20080201 RGD protein:decreased expression:prostate gland 69279 Cdh1 cadherin 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:737413 D RGD:2289493|PMID:17656222 20080201 RGD DNA:polymorphism:promoter:-160C>A (human) 69279 Cdh1 cadherin 1 gene DOID:10534 stomach cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate | ClinVar Annotator: match by term: Stomach cancer PMID:11948460|PMID:15235021|PMID:15831593|PMID:16061854|PMID:17221870|PMID:17522512|PMID:17545690|PMID:17576681|PMID:18427545|PMID:18442100|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20373070|PMID:20719348|PMID:21424370|PMID:21681551|PMID:22723466|PMID:23264079|PMID:23709761|PMID:25741868|PMID:26025002|PMID:26072394|PMID:26467025|PMID:27682646|PMID:27880784|PMID:27995193|PMID:28492532|PMID:29025585|PMID:29769627|PMID:30287823|PMID:30426508|PMID:30745422|PMID:31514334|PMID:31589614|PMID:32362280|PMID:36988593|PMID:8557030|PMID:9536098|PMID:9744472 69279 Cdh1 cadherin 1 gene DOID:10629 microphthalmia ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375 69279 Cdh1 cadherin 1 gene DOID:11054 urinary bladder cancer IEP D RGD:1599549|PMID:17167984 20070207 RGD Protein:increased expression:cytoplasm 69279 Cdh1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:26901067 69279 Cdh1 cadherin 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737413 D RGD:2289491|PMID:17760743 20080204 RGD protein:decreased expression:urinary bladder 69279 Cdh1 cadherin 1 gene DOID:1380 endometrial cancer ISO RGD:737413 D RGD:7240710 20190213 OMIM 69279 Cdh1 cadherin 1 gene DOID:1520 colon carcinoma ISO RGD:737413 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:25741868|PMID:28492532|PMID:30287823 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:7240710 20180711 OMIM 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:30745422|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030|PMID:9744472 69279 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 69279 Cdh1 cadherin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 69279 Cdh1 cadherin 1 gene DOID:1793 pancreatic cancer ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 69279 Cdh1 cadherin 1 gene DOID:219 colon cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of colon PMID:15235021|PMID:16924464|PMID:17545690|PMID:19268661|PMID:20233471|PMID:22470475|PMID:22703879|PMID:24204729|PMID:24373500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28767289|PMID:29131691|PMID:29926297|PMID:30311375|PMID:32906206|PMID:33471991 69279 Cdh1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:7240710 20190213 OMIM 69279 Cdh1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17126523|PMID:17434710|PMID:19268661|PMID:23435907|PMID:24493355|PMID:25741868|PMID:25927356|PMID:26467025|PMID:27276934|PMID:27582386|PMID:28135048|PMID:28492532|PMID:28580595|PMID:28649662|PMID:28767289|PMID:28873162|PMID:30287823|PMID:31642931|PMID:31815095|PMID:32091409|PMID:32521533 69279 Cdh1 cadherin 1 gene DOID:2841 asthma ISO RGD:737413 D RGD:5132878|PMID:21540309 20110603 RGD 69279 Cdh1 cadherin 1 gene DOID:2871 endometrial carcinoma ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28352678|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8557030|PMID:17660459 69279 Cdh1 cadherin 1 gene DOID:305 carcinoma ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8075649|PMID:16316942|PMID:17520682 69279 Cdh1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:2289450|PMID:18213475 20080201 RGD 69279 Cdh1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:2289492|PMID:17660459 20080201 RGD DNA:nonsense mutation: :517insA (human) 69279 Cdh1 cadherin 1 gene DOID:3459 breast carcinoma ISO RGD:737413 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:25741868|PMID:28492532|PMID:29805042 69279 Cdh1 cadherin 1 gene DOID:3571 liver cancer ISO RGD:737414 D RGD:152995431|PMID:25319454 20220621 RGD mRNA:increased expression:liver (mouse) 69279 Cdh1 cadherin 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:737413 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10896919|PMID:11968083|PMID:12588804|PMID:12944922|PMID:14500541|PMID:14562278|PMID:16112667|PMID:16527687|PMID:16929514|PMID:17510211|PMID:19247957|PMID:19268661|PMID:19269290|PMID:21989054|PMID:22850631|PMID:24690483|PMID:24784840|PMID:25180051|PMID:25187893|PMID:25388006|PMID:25741868|PMID:25856671|PMID:26072394|PMID:26467025|PMID:26822949|PMID:27121310|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28580595|PMID:29752822|PMID:30287823 69279 Cdh1 cadherin 1 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:737413 D RGD:9068941 20210409 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 69279 Cdh1 cadherin 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:5132892|PMID:20495078 20110607 RGD 69279 Cdh1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737414 D RGD:5132890|PMID:16924102 20110607 RGD 69279 Cdh1 cadherin 1 gene DOID:3910 lung adenocarcinoma IDA D RGD:1599556|PMID:16329148 20070207 RGD DNA:increased methylation 69279 Cdh1 cadherin 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:737413 D RGD:13792554|PMID:25520863 20180912 RGD DNA:hypermethylation:promoter 69279 Cdh1 cadherin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737413 D RGD:2289489|PMID:17906660 20080201 RGD protein:decreased expression, altered localization:kidney, nucleus 69279 Cdh1 cadherin 1 gene DOID:4450 renal cell carcinoma onset ISO RGD:737413 D RGD:7242059|PMID:15203750 20130326 RGD DNA:LOH: : 69279 Cdh1 cadherin 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:737413 D RGD:9588574|PMID:15999364 20141031 RGD DNA:hypermethylation:promoter: 69279 Cdh1 cadherin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:25741868|PMID:28492532|PMID:28590052|PMID:30287823|PMID:32885271|PMID:33309985 69279 Cdh1 cadherin 1 gene DOID:5082 liver cirrhosis ISO RGD:737413 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 69279 Cdh1 cadherin 1 gene DOID:5199 ureteral obstruction ISO RGD:737413 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 69279 Cdh1 cadherin 1 gene DOID:557 kidney disease ISO RGD:737413 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 69279 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31600923|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:33471991|PMID:8075649|PMID:9537325|PMID:9744472 69279 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:630 genetic disease ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32260281 69279 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma IDA D RGD:2289638|PMID:17295234 20080204 RGD DNA:hypermethylation 69279 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737413 D RGD:14402045|PMID:30697077 20190528 RGD DNA:hypermethylation 69279 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:14402045|PMID:30697077 20190528 RGD mRNA:increased expression:liver 69279 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:14402047|PMID:18837082 20190528 RGD protein:decreased expression:liver 69279 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737414 D RGD:14402046|PMID:24840851 20190528 RGD 69279 Cdh1 cadherin 1 gene DOID:687 hepatoblastoma ISO RGD:737413 D RGD:14402053|PMID:16465411 20190528 RGD protein:increased expression:liver 69279 Cdh1 cadherin 1 gene DOID:8577 ulcerative colitis ISO RGD:737413 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 69279 Cdh1 cadherin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 69279 Cdh1 cadherin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737413 D RGD:2289490|PMID:17894941 20080201 RGD DNA:hypermethylation:uterine cervix 69279 Cdh1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:2289498|PMID:17649807 20080201 RGD associated with Breast Neoplasms 69279 Cdh1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:2296046|PMID:18097581 20080624 RGD associated with Cervix Neoplasms 69279 Cdh1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9537325|PMID:10072428|PMID:12588804|PMID:19168852|PMID:19184424|PMID:24816253 69279 Cdh1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23425907|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26182300|PMID:26467025|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:32566746|PMID:33471991 69279 Cdh1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17545690|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20233471|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31642931|PMID:32521533|PMID:32566746|PMID:32906206|PMID:33471991 69279 Cdh1 cadherin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69279 Cdh1 cadherin 1 gene DOID:9000784 Fibrosis ISO RGD:737413 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 69279 Cdh1 cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 69279 Cdh1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:22580338 69279 Cdh1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:2289488|PMID:18008331 20080201 RGD associated with Prostatic Neoplasms 69279 Cdh1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737413 D RGD:152995400|PMID:27431311 20220616 RGD associated with stomach cancer; human cells in mouse model 69279 Cdh1 cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:38599216|PMID:29323718 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) 69279 Cdh1 cadherin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:25319454 69279 Cdh1 cadherin 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:737413 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 69279 Cdh1 cadherin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737413 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:16813949|PMID:22581815|PMID:29295717|PMID:29610475 69279 Cdh1 cadherin 1 gene DOID:9002467 Mycoplasma Infections ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 69279 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8075649 69279 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:2289497|PMID:15785075 20080201 RGD 69279 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11747475|PMID:15235021|PMID:19139070|PMID:20373070|PMID:22470475|PMID:23709761|PMID:24728327|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26467025|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28166811|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28961279|PMID:28993866|PMID:29522266|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:31159747|PMID:31871109|PMID:32566746|PMID:8075649 69279 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:737413 D RGD:2289494|PMID:18035404 20080201 RGD DNA:polymorphism:3' utr:*54C>T (human) 69279 Cdh1 cadherin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 69279 Cdh1 cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 69279 Cdh1 cadherin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737413 D RGD:2289490|PMID:17894941 20080201 RGD DNA:hypermethylation:uterine cervix 69279 Cdh1 cadherin 1 gene DOID:9003566 Mesothelioma ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 69279 Cdh1 cadherin 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737413 D RGD:2296045|PMID:18295959 20080624 RGD protein:decreased expression:endometrium 69279 Cdh1 cadherin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:22580338 69279 Cdh1 cadherin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69279 Cdh1 cadherin 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14961571|PMID:16189707 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23425907|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32318955|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32957588|PMID:32980694|PMID:33471991|PMID:34299313|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32885271|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:33809393|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22850631|PMID:22875147|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28577310|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341 69279 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34299313|PMID:34359559|PMID:34426522|PMID:34503169|PMID:34537906|PMID:34690920|PMID:35089076|PMID:35172483|PMID:35327954|PMID:35418818|PMID:36436516|PMID:36988593|PMID:8075649|PMID:8127895|PMID:8557030|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 69279 Cdh1 cadherin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 69279 Cdh1 cadherin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8075649 69279 Cdh1 cadherin 1 gene DOID:9007809 Neoplasm Seeding ISO RGD:737413 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 69279 Cdh1 cadherin 1 gene DOID:9008114 Helicobacter Infections ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 69279 Cdh1 cadherin 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737413 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 69279 Cdh1 cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10072428|PMID:19011631 69279 Cdh1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17520682|PMID:19839049|PMID:23921149|PMID:24014025 69279 Cdh1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:2289447|PMID:18225549 20080201 RGD protein:decreased expression:breast 69279 Cdh1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:2289457|PMID:18210882 20080201 RGD DNA:hypermethylation:promoter, breast, serum 69279 Cdh1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Breast tumor PMID:11305955|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 69279 Cdh1 cadherin 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15173255|PMID:15235021|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:18046629|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18788075|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:22006311|PMID:22225527|PMID:22470475|PMID:22703879|PMID:22723466|PMID:22850631|PMID:22911296|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25275298|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27064202|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28135145|PMID:28166811|PMID:28202063|PMID:28301460|PMID:28492532|PMID:28590052|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29295527|PMID:29348693|PMID:29431110|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30239046|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:30745422|PMID:31159747|PMID:31422574|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31742824|PMID:31843900|PMID:31871109|PMID:32068069|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32842532|PMID:32885271|PMID:33193653|PMID:33309985|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:36988593|PMID:8075649|PMID:9268661|PMID:9536098|PMID:9537325 69279 Cdh1 cadherin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737413 D RGD:11252161|PMID:15863205 20160627 RGD DNA:hypermethylation:promoter: 69279 Cdh1 cadherin 1 gene DOID:9256 colorectal cancer ISO RGD:737413 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 69279 Cdh1 cadherin 1 gene DOID:9296 cleft lip ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:26123647|PMID:28492532|PMID:29348693|PMID:29805042 69279 Cdh1 cadherin 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737413 D RGD:1599548|PMID:15831593 20070207 RGD DNA:splice-site mutation: :531+2T>A (human) 69279 Cdh1 cadherin 1 gene DOID:9351 diabetes mellitus ISO RGD:737413 D RGD:152975631|PMID:27411924 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) 69280 Cdh2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:13524622|PMID:28280076 20180425 RGD DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human) 69280 Cdh2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:13524623|PMID:28326674 20180425 RGD DNA:mutation:cds:c.1219G>A(p.D407N)(human) 69280 Cdh2 cadherin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731821 D RGD:734737|PMID:7502046 19990101 RGD 69280 Cdh2 cadherin 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731820 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 69280 Cdh2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:7240710 20200910 OMIM 69280 Cdh2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome PMID:18798333|PMID:25741868|PMID:31585109|PMID:31650526 69280 Cdh2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:7240710 20200701 OMIM 69280 Cdh2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 PMID:25741868|PMID:28280076|PMID:28326674|PMID:28492532 69280 Cdh2 cadherin 2 gene DOID:1059 intellectual disability ISO RGD:731820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 69280 Cdh2 cadherin 2 gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:731821 D RGD:13592920 20230302 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 69280 Cdh2 cadherin 2 gene DOID:1824 status epilepticus ISO RGD:731820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12125071 69280 Cdh2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69280 Cdh2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30847666|PMID:31585109 69280 Cdh2 cadherin 2 gene DOID:9000019 Attention Deficit-Hyperactivity Disorder 8 ISO RGD:731820 D RGD:7240710 20220720 OMIM 69280 Cdh2 cadherin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 69280 Cdh2 cadherin 2 gene DOID:9000918 Disease Progression ISO RGD:731820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 69280 Cdh2 cadherin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 69280 Cdh2 cadherin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731820 D RGD:38500244|PMID:25593290 20200924 RGD mRNA:increased expression:lung 69280 Cdh2 cadherin 2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731820 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:31585109 69280 Cdh2 cadherin 2 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731821 D RGD:734737|PMID:7502046 19990101 RGD 69280 Cdh2 cadherin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 69280 Cdh2 cadherin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731820 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 69280 Cdh2 cadherin 2 gene DOID:9006205 Animal Disease Models ISO RGD:731820 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 69280 Cdh2 cadherin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731820 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 69280 Cdh2 cadherin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731820 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0050742 nicotine dependence ISO RGD:733511 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733511 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19644040 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:733511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:733511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:630 genetic disease ISO RGD:733511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:733511 D RGD:11554173 20200310 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733511 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 69281 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733511 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:0080600 COVID-19 ISO RGD:736227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:4448 macular degeneration ISO RGD:736227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 69282 Slc16a8 solute carrier family 16 member 8 gene DOID:630 genetic disease ISO RGD:736227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15130911 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731632 D RGD:1582496|PMID:15130911 20061110 RGD 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:731631 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:7240710 20140911 OMIM 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:20300561|PMID:21677792|PMID:22180149|PMID:22939401|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26872967|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30718709|PMID:30851773|PMID:32036094|PMID:33353011|PMID:9536098 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11062461 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:11592982|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31725702|PMID:9536098 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31725702|PMID:32036094|PMID:33353011|PMID:9536098 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:2986 IgA glomerulonephritis ISO RGD:731631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:305 carcinoma ISO RGD:731631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028587 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:731631 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17301963|PMID:24265693|PMID:26355662|PMID:28492532|PMID:29659094 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration IAGP D RGD:69668|PMID:11592982 20201214 RGD 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration treatment IDA D RGD:69668|PMID:11592982 20190802 RGD 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:8501 fundus dystrophy ISO RGD:731631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:17301963|PMID:17576681|PMID:24265693|PMID:24625443|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29074561|PMID:29659094|PMID:30718709|PMID:33353011|PMID:33921607|PMID:9536098 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:9003121 Thromboembolism ISO RGD:731631 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17047157 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731631 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19028587 69283 Mertk MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731632 D RGD:1582496|PMID:15130911 20061110 RGD 69284 Sh2b2 SH2B adaptor protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736917 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69284 Sh2b2 SH2B adaptor protein 2 gene DOID:630 genetic disease ISO RGD:736917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69285 Cfl1 cofilin 1 gene DOID:0050562 West syndrome IEP D RGD:11570411|PMID:24994451 20161214 RGD protein:decreased expression:brain (rat) 69285 Cfl1 cofilin 1 gene DOID:0050731 vitamin B12 deficiency IEP D RGD:11352764|PMID:25982389 20161213 RGD protein:increased expression:kidney (rat) 69285 Cfl1 cofilin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 69285 Cfl1 cofilin 1 gene DOID:0080016 spina bifida ISO RGD:732970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17352815 69285 Cfl1 cofilin 1 gene DOID:1059 intellectual disability ISO RGD:732970 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69285 Cfl1 cofilin 1 gene DOID:11457 brain compression treatment ISO RGD:732970 D RGD:12738361|PMID:25708984 20170201 RGD 69285 Cfl1 cofilin 1 gene DOID:1184 nephrotic syndrome treatment IEP D RGD:11570418|PMID:24737737 20161214 RGD 69285 Cfl1 cofilin 1 gene DOID:1824 status epilepticus treatment IEP D RGD:11568691|PMID:27642592 20161213 RGD 69285 Cfl1 cofilin 1 gene DOID:1875 impotence IEP D RGD:11568706|PMID:25923835 20161213 RGD protein:increased phosphorylation:corpus cavernosum penis (rat) 69285 Cfl1 cofilin 1 gene DOID:1875 impotence treatment IEP D RGD:11570410|PMID:25444982 20161214 RGD 69285 Cfl1 cofilin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 69285 Cfl1 cofilin 1 gene DOID:2746 glycogen storage disease V ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 69285 Cfl1 cofilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732970 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 69285 Cfl1 cofilin 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:732970 D RGD:11571623|PMID:23320827 20161221 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) 69285 Cfl1 cofilin 1 gene DOID:5199 ureteral obstruction IEP D RGD:11570413|PMID:24761003 20161214 RGD protein:increased expression:inner medulla of kidney (rat) 69285 Cfl1 cofilin 1 gene DOID:5844 myocardial infarction treatment IDA D RGD:11570534|PMID:24292258 20161219 RGD 69285 Cfl1 cofilin 1 gene DOID:630 genetic disease ISO RGD:732970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69285 Cfl1 cofilin 1 gene DOID:767 muscular atrophy IEP D RGD:11570530|PMID:24711688 20161219 RGD protein:decreased phosphorylation:gastrocnemius (rat) 69285 Cfl1 cofilin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 69285 Cfl1 cofilin 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:11570419|PMID:24726496 20161214 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat) 69285 Cfl1 cofilin 1 gene DOID:9002211 Hyperalgesia IEP D RGD:11570412|PMID:24962708 20161214 RGD protein:increased phosphorylation:dorsal root ganglion (rat) 69285 Cfl1 cofilin 1 gene DOID:9003234 Hypertensive Nephropathy IEP D RGD:11520804|PMID:26450610 20161213 RGD protein:increased phosphorylation:kidney (rat) 69285 Cfl1 cofilin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 69285 Cfl1 cofilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 69285 Cfl1 cofilin 1 gene DOID:9005632 Cocaine-Related Disorders IEP D RGD:11568696|PMID:27018876 20161213 RGD protein:altered expression:striatum (rat) 69285 Cfl1 cofilin 1 gene DOID:9005968 Neuralgia treatment IEP D RGD:11568694|PMID:27216618 20161213 RGD associated with Sciatic Neuropathy 69285 Cfl1 cofilin 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:11568692|PMID:27576917 20161213 RGD associated with Diabetes Mellitus, Experimental 69285 Cfl1 cofilin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 69285 Cfl1 cofilin 1 gene DOID:9008091 Optic Nerve Injuries treatment IDA D RGD:11568693|PMID:27443501 20161213 RGD 69285 Cfl1 cofilin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732970 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 69286 Cdh8 cadherin 8 gene DOID:630 genetic disease ISO RGD:735375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69287 Sqstm1 sequestosome 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:11473345|PMID:11992264|PMID:12374763|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17181397|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:18543015|PMID:18765443|PMID:19049332|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23117207|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25664955|PMID:25681989|PMID:25708934|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26412716|PMID:26467025|PMID:26601740|PMID:26627873|PMID:26713335|PMID:26836416|PMID:26925868|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27554286|PMID:27594680|PMID:27631370|PMID:28003435|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28709720|PMID:29411640|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29959261|PMID:30120248|PMID:30154079|PMID:30638816|PMID:30679323|PMID:30842500|PMID:31434890|PMID:31859009|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32385536|PMID:32579787|PMID:33973882|PMID:34020145|PMID:34307757|PMID:9536098 69287 Sqstm1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:7240710 20190315 OMIM 69287 Sqstm1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles PMID:12374763|PMID:17129171|PMID:23417734|PMID:25741868|PMID:26208961|PMID:26467025|PMID:26627873|PMID:28492532 69287 Sqstm1 sequestosome 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:22972638|PMID:23417734|PMID:23942205|PMID:25741868|PMID:25796131|PMID:28492532|PMID:29895397|PMID:31859009 69287 Sqstm1 sequestosome 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 69287 Sqstm1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:7240710 20150812 OMIM 69287 Sqstm1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 PMID:11473345|PMID:11992264|PMID:14584883|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16691492|PMID:16813535|PMID:17181397|PMID:17229007|PMID:17229008|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25741868|PMID:25796131|PMID:26412716|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29525180|PMID:29599744|PMID:30154079|PMID:30842500 69287 Sqstm1 sequestosome 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:736484 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 69287 Sqstm1 sequestosome 1 gene DOID:10763 hypertension IEP D RGD:11561939|PMID:23499735 20161111 RGD protein:decreased expression:brain 69287 Sqstm1 sequestosome 1 gene DOID:1686 glaucoma IEP D RGD:13782046|PMID:24136224 20180815 RGD protein:increased expression:optic nerve 69287 Sqstm1 sequestosome 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19765191 69287 Sqstm1 sequestosome 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:32579787 69287 Sqstm1 sequestosome 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736485 D RGD:11561951|PMID:23851366 20161114 RGD mRNA:increased expression:spinal cord 69287 Sqstm1 sequestosome 1 gene DOID:4448 macular degeneration ISO RGD:736484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23922739 69287 Sqstm1 sequestosome 1 gene DOID:5408 Paget's disease of bone ISO RGD:736484 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 69287 Sqstm1 sequestosome 1 gene DOID:5408 Paget's disease of bone ISO RGD:736484 D RGD:1599121|PMID:11992264 20070117 RGD DNA:point mutation: :p.P392L (human) 69287 Sqstm1 sequestosome 1 gene DOID:5408 Paget's disease of bone ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079 69287 Sqstm1 sequestosome 1 gene DOID:630 genetic disease ISO RGD:736484 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17129171|PMID:17188686|PMID:19049332|PMID:22084127|PMID:23812289|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25741868|PMID:26467025|PMID:26601740|PMID:28492532|PMID:31434890 69287 Sqstm1 sequestosome 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736484 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 69287 Sqstm1 sequestosome 1 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:11561935|PMID:23884876 20161111 RGD protein:decreased expression:basal ganglion 69287 Sqstm1 sequestosome 1 gene DOID:9003060 Paget Disease of Bone 2, Early-Onset ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25681989|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:30679323 69287 Sqstm1 sequestosome 1 gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:736484 D RGD:7240710 20190315 OMIM 69287 Sqstm1 sequestosome 1 gene DOID:9005240 Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ISO RGD:736484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:15146436|PMID:21073987|PMID:22491873|PMID:23117207|PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532|PMID:29959261 69287 Sqstm1 sequestosome 1 gene DOID:9005587 Starvation ISO RGD:736484 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 69287 Sqstm1 sequestosome 1 gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:736484 D RGD:7240710 20190327 OMIM 69287 Sqstm1 sequestosome 1 gene DOID:9007946 Paget Disease of Bone 3 ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 PMID:11473345|PMID:11992264|PMID:12374763|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17129171|PMID:17188686|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25681989|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26467025|PMID:26627873|PMID:26713335|PMID:26836416|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29959261|PMID:30154079|PMID:30679323|PMID:31859009|PMID:32385536 69287 Sqstm1 sequestosome 1 gene DOID:9923 developmental coordination disorder ISO RGD:736484 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:32773031 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733374 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26599507 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0050474 Netherton syndrome ISO RGD:733374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657595 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:733374 D RGD:2315089|PMID:17163404 20091218 RGD protein:increased expression:breast 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17273967|PMID:18445049 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:7240710 20160113 OMIM 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 PMID:12207612|PMID:17273967|PMID:18445049|PMID:18843291|PMID:25741868|PMID:28492532|PMID:29611532|PMID:9450882 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0080600 COVID-19 ISO RGD:733374 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:0111723 Jacobsen Syndrome ISO RGD:733374 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:12894 Sjogren's syndrome ISS RGD:733375 D RGD:13592920 20180518 MouseDO OMIM:270150 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:2999 granulosa cell tumor ISO RGD:733374 D RGD:2315091|PMID:16439987 20091218 RGD protein:increased expression:ovary 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:4441 dysgerminoma ISO RGD:733374 D RGD:2315091|PMID:16439987 20091218 RGD protein:increased expression:ovary 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:4450 renal cell carcinoma ISO RGD:733374 D RGD:2315090|PMID:16501837 20091218 RGD protein:increased expression:kidney 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:5419 schizophrenia ISO RGD:733374 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:630 genetic disease ISO RGD:733374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:8634 prostate carcinoma in situ ISO RGD:733374 D RGD:2315088|PMID:18813126 20091217 RGD protein:increased expression:prostate gland 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9000081 Lymphatic Metastasis ISO RGD:733374 D RGD:2315087|PMID:19443387 20091217 RGD associated with Endometrial Neoplasms 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:2315088|PMID:18813126 20091217 RGD associated with Prostatic Neoplasms 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:2315092|PMID:17456594 20091218 RGD associated with Breast Neoplasms 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9002189 High Myopia ISO RGD:733374 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:2315088|PMID:18813126 20091217 RGD protein:increased expression:prostate gland 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:733374 D RGD:2315091|PMID:16439987 20091218 RGD protein:increased expression:ovary 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:733374 D RGD:2315093|PMID:16021568 20091218 RGD mRNA, protein:increased expression:uterine cervix 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733374 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733374 D RGD:2315091|PMID:16439987 20091218 RGD associated with Ovarian Neoplasms;protein:increased expression:ovary 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9007661 Dwarfism ISO RGD:733374 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733374 D RGD:2315087|PMID:19443387 20091217 RGD protein:increased expression:endometrium 69288 St14 ST14 transmembrane serine protease matriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733374 D RGD:2315089|PMID:17163404 20091218 RGD protein:increased expression:breast 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:1227 neutropenia ISO RGD:734113 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33025377 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:630 genetic disease ISO RGD:734113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:8692 myeloid leukemia ISO RGD:734113 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734113 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28369034|PMID:28369036 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:7240710 20190327 OMIM 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 2 PMID:25741868|PMID:28369036|PMID:28492532|PMID:33025377|PMID:35320004 69289 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:734113 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:28369036 69290 Trim17 tripartite motif-containing 17 gene DOID:1540 parathyroid carcinoma ISO RGD:736909 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 69290 Trim17 tripartite motif-containing 17 gene DOID:630 genetic disease ISO RGD:736909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69290 Trim17 tripartite motif-containing 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736909 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 69291 Hmgb2 high mobility group box 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1605728 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24366584|PMID:27602772 69291 Hmgb2 high mobility group box 2 gene DOID:630 genetic disease ISO RGD:1605728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69291 Hmgb2 high mobility group box 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1605728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20851854 69291 Hmgb2 high mobility group box 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605728 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29877212 69291 Hmgb2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605728 D RGD:10402184|PMID:19139395 20151019 RGD mRNA:decreased expression:articular cartilage 69291 Hmgb2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:736524 D RGD:10402184|PMID:19139395 20151019 RGD 69291 Hmgb2 high mobility group box 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605728 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69291 Hmgb2 high mobility group box 2 gene DOID:9006205 Animal Disease Models ISO RGD:1605728 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69291 Hmgb2 high mobility group box 2 gene DOID:9970 obesity ISO RGD:1605728 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 69292 Sult4a1 sulfotransferase family 4A, member 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736677 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 69292 Sult4a1 sulfotransferase family 4A, member 1 gene DOID:1059 intellectual disability ISO RGD:736677 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69292 Sult4a1 sulfotransferase family 4A, member 1 gene DOID:630 genetic disease ISO RGD:736677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69293 Fetub fetuin B gene DOID:0060575 3MC syndrome 1 ISO RGD:1348659 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 69293 Fetub fetuin B gene DOID:630 genetic disease ISO RGD:1348659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69293 Fetub fetuin B gene DOID:9003281 Spontaneous Abortions ISO RGD:1348659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:735583 D RGD:8554872 20180703 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:7240710 20130221 OMIM 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16118794|PMID:16373087|PMID:16787513|PMID:17576681|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23359569|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25614874|PMID:25741868|PMID:25963657|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:12377 spinal muscular atrophy ISO RGD:735583 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:2538 Landau-Kleffner syndrome ISO RGD:735583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:5419 schizophrenia ISO RGD:735583 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:5812 MHC class II deficiency ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:630 genetic disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:17576681|PMID:20301384|PMID:2239969|PMID:22765307|PMID:23319192|PMID:23576546|PMID:24604904|PMID:25058650|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735583 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:29845714 69294 Litaf lipopolysaccharide-induced TNF factor gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11533943|PMID:21575160 20160913 RGD protein:increased expression:retina 69295 Asic5 acid sensing ion channel subunit family member 5 gene DOID:630 genetic disease ISO RGD:736018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69295 Asic5 acid sensing ion channel subunit family member 5 gene DOID:9007479 Habitual Abortions ISO RGD:736018 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:1059 intellectual disability ISO RGD:733577 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:2746 glycogen storage disease V ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:630 genetic disease ISO RGD:733577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733577 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 69296 Slc29a2 solute carrier family 29 member 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 69297 Camlg calcium modulating ligand gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69297 Camlg calcium modulating ligand gene DOID:630 genetic disease ISO RGD:1347931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69297 Camlg calcium modulating ligand gene DOID:8692 myeloid leukemia ISO RGD:1347931 D RGD:2316229|PMID:12031912 20100201 RGD mRNA:increased expression:bone marrow (human) 69297 Camlg calcium modulating ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347931 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69297 Camlg calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:7240710 20230125 OMIM 69297 Camlg calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz PMID:35262690 69297 Camlg calcium modulating ligand gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:734409 D RGD:9685437|PMID:22864860 20150109 RGD protein:decreased expression:vitreous: 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734409 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:734409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:2237 hepatitis ISO RGD:734409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17850827 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:734409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001191 Cadmium Poisoning IEP D RGD:9685430|PMID:24361405 20150108 RGD protein:increased activity:plasma: 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:9685426|PMID:17850827 20150108 RGD protein:increased activity:serum: 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:9685427|PMID:20957682 20150108 RGD 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:9685429|PMID:20392816 20150108 RGD 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9003996 Birth Weight ISO RGD:734409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23866971 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:734409 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9685437|PMID:22864860 20150109 RGD protein:decreased expression:retina: 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:9685426|PMID:17850827 20150108 RGD protein:increased activity:serum: 69298 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9008691 Liver Injury IEP D RGD:9685426|PMID:17850827 20150108 RGD protein:increased activity:serum: 69299 Adam2 ADAM metallopeptidase domain 2 gene DOID:10652 Alzheimer's disease ISO RGD:69085 D RGD:10047127|PMID:10686596 20150710 RGD protein:increased expression:brain 69299 Adam2 ADAM metallopeptidase domain 2 gene DOID:630 genetic disease ISO RGD:69085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69299 Adam2 ADAM metallopeptidase domain 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:10047130|PMID:11967014 20150710 RGD 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1350750 D RGD:152995425|PMID:21625523 20220621 RGD mRNA,protein:increased expression:prostate (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:1324 lung cancer ISO RGD:1350750 D RGD:152995427|PMID:25625007 20220621 RGD mRNA:increased expression:lung (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:13580 cholestasis IEP D RGD:2303109|PMID:17916651 20090203 RGD mRNA, protein:increased expression:hepatocyte 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:1520 colon carcinoma ISO RGD:1350750 D RGD:152995419|PMID:19074900 20220621 RGD mRNA,protein:increased expression:colon (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:219 colon cancer disease_progression ISO RGD:1350750 D RGD:152995427|PMID:25625007 20220621 RGD mRNA:increased expression:colon (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:2394 ovarian cancer ISO RGD:1350750 D RGD:152995440|PMID:29577869 20220622 RGD mRNA:increased expression:overy (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:2739 Gilbert syndrome ISO RGD:1350750 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Gilbert syndrome 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:732053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18296417 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:2998 testicular cancer ISO RGD:1350750 D RGD:152995425|PMID:21625523 20220621 RGD mRNA:decreased expression:testis (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:1350750 D RGD:152995410|PMID:17760952 20220617 RGD protein:decreased expression:breast (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:3571 liver cancer ISO RGD:732053 D RGD:152995431|PMID:25319454 20220621 RGD mRNA:decreased expression:liver (mouse) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:630 genetic disease ISO RGD:1350750 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350750 D RGD:152995417|PMID:21626360 20220621 RGD protein:decreased expression:liver (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1350750 D RGD:152995423|PMID:32534581 20220621 RGD mRNA,protein:decreased expression:liver (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9000722 Animal Hepatitis IEP D RGD:2303132|PMID:12127424 20090203 RGD 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9000965 Neoplasm Metastasis IEP D RGD:2302565|PMID:16895976 20090203 RGD associated with Colonic Neoplasms;protein:decreased expression:liver 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350750 D RGD:11554173 20170606 CTD CTD Direct Evidence: marker/mechanism PMID:22326869|PMID:25625007 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2303111|PMID:16858290 20090203 RGD mRNA:decreased expression:liver 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9004351 Digestive System Neoplasms severity ISO RGD:1350750 D RGD:152995429|PMID:25611302 20220621 RGD protein:increased expression:colon,rectum,pancreas (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9004484 Sepsis IEP D RGD:631887|PMID:10500057 20090204 RGD mRNA:decreased expression:liver 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:1350750 D RGD:11080999|PMID:23188068 20160621 RGD associated with neoplasm;DNA:SNP: rs11045585(human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1350750 D RGD:11080980|PMID:18294295 20160520 RGD associated with neoplasm;DNA:SNP:rs11045585(human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9005094 Hereditary Hyperbilirubinemia IMP D RGD:150521535|PMID:32528832 20211109 RGD 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1350750 D RGD:7240710 20180131 OMIM 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9005094 Hereditary Hyperbilirubinemia ISO RGD:1350750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rotor syndrome PMID:21278621|PMID:22232210|PMID:25546334|PMID:25741868|PMID:27040692|PMID:27296017|PMID:27582484|PMID:28492532|PMID:30366773|PMID:32082363 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9005172 Lung Neoplasms ISO RGD:1350750 D RGD:11554173 20170606 CTD CTD Direct Evidence: marker/mechanism PMID:22326869|PMID:25625007 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350750 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29491222 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9253 gastrointestinal stromal tumor treatment ISO RGD:1350750 D RGD:152995424|PMID:29054076 20220621 RGD DNA:SNP:: (rs4149117) (human) 69300 Slco1b2 solute carrier organic anion transporter family member 1B2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350750 D RGD:9068941 20220623 RGD protein:increased expression:colorectum (human) PMID:21677819|REF_RGD_ID:152995437 69301 Tagln3 transgelin 3 gene DOID:630 genetic disease ISO RGD:1348892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69302 Serpinh1 serpin family H member 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732731 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 69302 Serpinh1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 69302 Serpinh1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:7240710 20230517 OMIM 69302 Serpinh1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:20188343|PMID:25510505|PMID:25741868|PMID:28492532 69302 Serpinh1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 69302 Serpinh1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:7240710 20230517 OMIM 69302 Serpinh1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:16938879|PMID:25741868|PMID:28492532 69302 Serpinh1 serpin family H member 1 gene DOID:1059 intellectual disability ISO RGD:732731 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69302 Serpinh1 serpin family H member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 69302 Serpinh1 serpin family H member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:732731 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 69302 Serpinh1 serpin family H member 1 gene DOID:326 ischemia ISO RGD:732731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 69302 Serpinh1 serpin family H member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:732731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 69302 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis ISO RGD:732731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24321339 69302 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:41410780|PMID:25111595 20210212 RGD associated with schistosomiasis;mRNA:increased expression:liver (human) 69302 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:41410784|PMID:24295791 20210212 RGD associated with Schistosomiasis Japonica;mRNA:increased expression:liver (human) 69302 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:737440 D RGD:41412161|PMID:31612672 20210218 RGD associated with Schistosomiasis Japonica 69302 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:737440 D RGD:41410784|PMID:24295791 20210212 RGD associated with Schistosomiasis Japonica 69302 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:737440 D RGD:41410785|PMID:32410640 20210212 RGD associated with Schistosomiasis Japonica 69302 Serpinh1 serpin family H member 1 gene DOID:630 genetic disease ISO RGD:732731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 69302 Serpinh1 serpin family H member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732731 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18376398|PMID:25380136 69302 Serpinh1 serpin family H member 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:737440 D RGD:41412161|PMID:31612672 20210218 RGD mRNA,protein:increased expression:liver, serum (mouse) 69302 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis disease_progression IEP D RGD:41410779|PMID:12691502 20210212 RGD protein:increased expression:peritoneum (rat) 69302 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment IEP D RGD:41410783|PMID:32585450 20210212 RGD 69302 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment IMP D RGD:41410781|PMID:12911538 20210212 RGD 69302 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:737440 D RGD:41410782|PMID:15458466 20210212 RGD 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:7240710 20150311 OMIM 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46 PMID:21937992|PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:733822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:733822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:733822 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:11198 DiGeorge syndrome ISS RGD:736720 D RGD:13592920 20180518 MouseDO OMIM:188400 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:12716 newborn respiratory distress syndrome ISS RGD:736720 D RGD:13592920 20180518 MouseDO OMIM:267450 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:736720 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28211985|PMID:28492532|PMID:9536098 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733822 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 69303 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733822 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:7240710 20200701 OMIM 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,xx sex reversal 5 PMID:25741868|PMID:27363585|PMID:29478779 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:10763 hypertension IMP D RGD:10401852|PMID:25687237 20171102 RGD 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:12930 dilated cardiomyopathy ISS RGD:735362 D RGD:13592920 20180518 MouseDO 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:289 endometriosis ISO RGD:735361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:735362 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:630 genetic disease ISO RGD:735361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29222010|PMID:32719394 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:7240710 20170301 OMIM 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 PMID:10215630|PMID:24702954|PMID:25741868|PMID:27363585|PMID:28492532|PMID:29222010|PMID:29478779|PMID:29570242|PMID:29663647 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9003735 Splenic Hypoplasia ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asplenia PMID:24702954|PMID:25741868 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735361 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9007456 Female Infertility ISO RGD:735361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17590085 69305 Nr2f2 nuclear receptor subfamily 2, group F, member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:734187 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:543 dystonia ISO RGD:734187 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:6000 congestive heart failure IEP D RGD:11526267|PMID:26668322 20180327 RGD protein:increased serine phosphorylation:heart, membrane 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:630 genetic disease ISO RGD:734187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:737203 D RGD:9685471|PMID:24218169 20150112 RGD 69306 Fxyd1 FXYD domain-containing ion transport regulator 1 gene DOID:9007102 Myocardial Ischemia IDA D RGD:9685466|PMID:14597563 20150112 RGD 69307 Slit1 slit guidance ligand 1 gene DOID:630 genetic disease ISO RGD:733848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69307 Slit1 slit guidance ligand 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736743 D RGD:2316136|PMID:16262652 20100126 RGD 69307 Slit1 slit guidance ligand 1 gene DOID:9000998 Brain Injuries IEP D RGD:2316136|PMID:16262652 20100126 RGD mRNA:increased expression:brain 69307 Slit1 slit guidance ligand 1 gene DOID:9007330 Monomelic Amyotrophy ISO RGD:733848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monomelic amyotrophy 69308 Pkn1 protein kinase N1 gene DOID:630 genetic disease ISO RGD:1352784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69308 Pkn1 protein kinase N1 gene DOID:9002514 Neointima ameliorates IMP D RGD:243065233|PMID:22893700 20230413 RGD 69309 Fabp4 fatty acid binding protein 4 gene DOID:1875 impotence IEP D RGD:1625408|PMID:17137605 20070607 RGD associated with hypercholesterolemia;mRNA:increased expression:penis erectile tissue 69309 Fabp4 fatty acid binding protein 4 gene DOID:2773 contact dermatitis ISO RGD:733453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 69309 Fabp4 fatty acid binding protein 4 gene DOID:305 carcinoma ISO RGD:733453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69309 Fabp4 fatty acid binding protein 4 gene DOID:557 kidney disease ISO RGD:733453 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30215792 69309 Fabp4 fatty acid binding protein 4 gene DOID:630 genetic disease ISO RGD:733453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69309 Fabp4 fatty acid binding protein 4 gene DOID:767 muscular atrophy IEP D RGD:151361116|PMID:14638460 20220223 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) 69309 Fabp4 fatty acid binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69309 Fabp4 fatty acid binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 69309 Fabp4 fatty acid binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1625411|PMID:9059981 20070607 RGD protein:decreased expresssion:fat cell 69309 Fabp4 fatty acid binding protein 4 gene DOID:9006646 Metabolic Syndrome ISO RGD:733453 D RGD:1625406|PMID:16919044 20070606 RGD protein:increased expression:serum 69309 Fabp4 fatty acid binding protein 4 gene DOID:9007692 Insulin Resistance IEP D RGD:1625407|PMID:17391165 20070607 RGD 69309 Fabp4 fatty acid binding protein 4 gene DOID:9970 obesity ISO RGD:733454 D RGD:737747|PMID:8910278 19990101 RGD 69310 Slit2 slit guidance ligand 2 gene DOID:0050144 Kartagener syndrome ISS RGD:735484 D RGD:13592920 20180518 MouseDO 69310 Slit2 slit guidance ligand 2 gene DOID:0050545 visceral heterotaxy ISS RGD:735484 D RGD:13592920 20180518 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 69310 Slit2 slit guidance ligand 2 gene DOID:0060224 atrial fibrillation ISO RGD:733021 D RGD:242905189|PMID:33236535 20230327 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium 69310 Slit2 slit guidance ligand 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733021 D RGD:11554173 20220208 CTD CTD Direct Evidence: therapeutic PMID:33120864 69310 Slit2 slit guidance ligand 2 gene DOID:0080205 CAKUT ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:28492532 69310 Slit2 slit guidance ligand 2 gene DOID:0080745 polymyositis ISO RGD:733021 D RGD:243048425|PMID:32213157 20230330 RGD mRNA,protein:increased expression:muscle 69310 Slit2 slit guidance ligand 2 gene DOID:10223 dermatomyositis ISO RGD:733021 D RGD:243048425|PMID:32213157 20230330 RGD mRNA,protein:increased expression:muscle 69310 Slit2 slit guidance ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:733021 D RGD:243048421|PMID:28973045 20230329 RGD associated with eye disease; protein:increased expression:vitreous 69310 Slit2 slit guidance ligand 2 gene DOID:1657 ventricular septal defect ISO RGD:735484 D RGD:243048427|PMID:25691540 20230330 RGD 69310 Slit2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia IEP D RGD:11573340|PMID:26764532 20230330 RGD protein:increased expression:hippocampus 69310 Slit2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia IEP D RGD:243048429|PMID:27686659 20230330 RGD protein:increased expression:brain, astrocyte 69310 Slit2 slit guidance ligand 2 gene DOID:2975 cystic kidney disease ISS RGD:735484 D RGD:13592920 20180518 MouseDO 69310 Slit2 slit guidance ligand 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:733021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20153733 69310 Slit2 slit guidance ligand 2 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:243048459|PMID:19944214 20230403 RGD mRNA:increased expression:lung 69310 Slit2 slit guidance ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:2316132|PMID:15215188 20100126 RGD mRNA:decreased expression:kidney, glomerulus 69310 Slit2 slit guidance ligand 2 gene DOID:5409 lung small cell carcinoma ISO RGD:733021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 69310 Slit2 slit guidance ligand 2 gene DOID:630 genetic disease ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69310 Slit2 slit guidance ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733021 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19100240 69310 Slit2 slit guidance ligand 2 gene DOID:8947 diabetic retinopathy IEP D RGD:243048421|PMID:28973045 20230329 RGD mRNA,protein:increased expression:retina 69310 Slit2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316127|PMID:19783284 20100126 RGD mRNA, protein:increased expression:spinal cord 69310 Slit2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:243048440|PMID:27893610 20230331 RGD mRNA,protein:decreased expression:spinal cord: 69310 Slit2 slit guidance ligand 2 gene DOID:9000998 Brain Injuries exacerbates IMP D RGD:243048437|PMID:26550694 20230331 RGD 69310 Slit2 slit guidance ligand 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:735484 D RGD:242905189|PMID:33236535 20230327 RGD protein:increased expression:left ventricle 69310 Slit2 slit guidance ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia treatment IEP D RGD:242905191|PMID:31356825 20230327 RGD 69310 Slit2 slit guidance ligand 2 gene DOID:9006182 Carotid Artery Injuries IEP D RGD:243048443|PMID:26841069 20230331 RGD mRNA:increased expression:carotid artery 69310 Slit2 slit guidance ligand 2 gene DOID:9008104 Cancer Pain ameliorates IMP D RGD:243048441|PMID:26738857 20230331 RGD 69310 Slit2 slit guidance ligand 2 gene DOID:9562 primary ciliary dyskinesia ISS RGD:735484 D RGD:13592920 20180518 MouseDO 69311 Slit3 slit guidance ligand 3 gene DOID:0060224 atrial fibrillation ISO RGD:733245 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 69311 Slit3 slit guidance ligand 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:733245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 69311 Slit3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:243048459|PMID:19944214 20230403 RGD mRNA:increased expression:lung 69311 Slit3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISS RGD:735860 D RGD:13592920 20180719 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 69311 Slit3 slit guidance ligand 3 gene DOID:630 genetic disease ISO RGD:733245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69311 Slit3 slit guidance ligand 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735860 D RGD:2316136|PMID:16262652 20100126 RGD 69311 Slit3 slit guidance ligand 3 gene DOID:9000998 Brain Injuries IEP D RGD:2316136|PMID:16262652 20100126 RGD mRNA:increased expression:brain 69311 Slit3 slit guidance ligand 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 69312 Fabp7 fatty acid binding protein 7 gene DOID:1826 epilepsy ISO RGD:1353760 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 69312 Fabp7 fatty acid binding protein 7 gene DOID:3068 glioblastoma severity ISO RGD:1353760 D RGD:1578468|PMID:15827123 19990101 RGD mRNA, protein:increased expression:brain (human) 69312 Fabp7 fatty acid binding protein 7 gene DOID:630 genetic disease ISO RGD:1353760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69312 Fabp7 fatty acid binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 69312 Fabp7 fatty acid binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1353760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 69313 Ache acetylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:735878 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69313 Ache acetylcholinesterase gene DOID:10487 Hirschsprung's disease ISO RGD:735878 D RGD:5509847|PMID:21991983 20111108 RGD 69313 Ache acetylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22944069|PMID:23047022 69313 Ache acetylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:5509844|PMID:16581404 20111108 RGD 69313 Ache acetylcholinesterase gene DOID:11054 urinary bladder cancer ISO RGD:735878 D RGD:11554173 20190312 CTD CTD Direct Evidence: marker/mechanism PMID:29644616 69313 Ache acetylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:735878 D RGD:5688127|PMID:2953866 20120217 RGD protein:decreased expression:cerebrospinal fluid 69313 Ache acetylcholinesterase gene DOID:14330 Parkinson's disease ISO RGD:735878 D RGD:5509846|PMID:19474411 20111108 RGD 69313 Ache acetylcholinesterase gene DOID:1826 epilepsy ISO RGD:735878 D RGD:5688133|PMID:7634486 20120217 RGD 69313 Ache acetylcholinesterase gene DOID:2297 leptospirosis IEP D RGD:5688128|PMID:21921108 20120217 RGD 69313 Ache acetylcholinesterase gene DOID:2355 anemia ISO RGD:735878 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31170385 69313 Ache acetylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:735878 D RGD:5688127|PMID:2953866 20120217 RGD protein:decreased expression:cerebrospinal fluid 69313 Ache acetylcholinesterase gene DOID:437 myasthenia gravis ISO RGD:735878 D RGD:5509842|PMID:17986328 20111108 RGD 69313 Ache acetylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 69313 Ache acetylcholinesterase gene DOID:480 movement disease ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19628251 69313 Ache acetylcholinesterase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735878 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69313 Ache acetylcholinesterase gene DOID:6088 acute stress disorder IEP D RGD:5509849|PMID:20645790 20111108 RGD 69313 Ache acetylcholinesterase gene DOID:630 genetic disease ISO RGD:735878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69313 Ache acetylcholinesterase gene DOID:670 amphetamine abuse ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16470869 69313 Ache acetylcholinesterase gene DOID:863 nervous system disease ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22240983 69313 Ache acetylcholinesterase gene DOID:8927 learning disability ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18533140 69313 Ache acetylcholinesterase gene DOID:9000046 Poisoning IDA D RGD:5688054|PMID:19453088 20120217 RGD 69313 Ache acetylcholinesterase gene DOID:9000046 Poisoning ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17098105 69313 Ache acetylcholinesterase gene DOID:9000495 Tremor ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27083141 69313 Ache acetylcholinesterase gene DOID:9001191 Cadmium Poisoning treatment IEP D RGD:152995409|PMID:27491636 20220617 RGD 69313 Ache acetylcholinesterase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16496349 69313 Ache acetylcholinesterase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20356562 69313 Ache acetylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:3669600|PMID:8359835|PMID:23000449 69313 Ache acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312430|PMID:19303406 20090812 RGD protein:increased expression:blood 69313 Ache acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312432|PMID:19296211 20090813 RGD 69313 Ache acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312437|PMID:1385785 20090817 RGD 69313 Ache acetylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:150517552|PMID:19347982 20090819 RGD 69313 Ache acetylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:735878 D RGD:5688055|PMID:17657467 20120217 RGD 69313 Ache acetylcholinesterase gene DOID:9006257 Growth Disorders ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22898132 69313 Ache acetylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27083141 69313 Ache acetylcholinesterase gene DOID:9007023 Prenatal Injuries ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14657522 69313 Ache acetylcholinesterase gene DOID:9007096 Stroke disease_progression ISO RGD:735878 D RGD:5688131|PMID:20464061 20120217 RGD protein:decreased expression:serum 69313 Ache acetylcholinesterase gene DOID:9008023 Memory Disorders ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18599028 69313 Ache acetylcholinesterase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735878 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 69313 Ache acetylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 69313 Ache acetylcholinesterase gene DOID:9120 amyloidosis ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23047022 69313 Ache acetylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:735878 D RGD:5688130|PMID:21303225 20120217 RGD 69313 Ache acetylcholinesterase gene DOID:9744 type 1 diabetes mellitus ISO RGD:735878 D RGD:2312438|PMID:2658981 20090817 RGD 69313 Ache acetylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:735878 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 69313 Ache acetylcholinesterase gene DOID:9970 obesity ISO RGD:735878 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 69314 Smad7 SMAD family member 7 gene DOID:0060224 atrial fibrillation ISO RGD:1344957 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 69314 Smad7 SMAD family member 7 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:25741868 69314 Smad7 SMAD family member 7 gene DOID:1059 intellectual disability ISO RGD:1344957 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 69314 Smad7 SMAD family member 7 gene DOID:10952 nephritis IEP D RGD:2315074|PMID:11170839 20091216 RGD mRNA:decreased expression:kidney 69314 Smad7 SMAD family member 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:1344957 D RGD:2299963|PMID:15661223 20080822 RGD mRNA:increased expression:endometrium 69314 Smad7 SMAD family member 7 gene DOID:1793 pancreatic cancer ISO RGD:1344957 D RGD:14394510|PMID:10498890 20190325 RGD mRNA:increased expression:pancreas (human) 69314 Smad7 SMAD family member 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344957 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23590892 69314 Smad7 SMAD family member 7 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:1344957 D RGD:14394510|PMID:10498890 20190325 RGD human cell and construct in a mouse model 69314 Smad7 SMAD family member 7 gene DOID:5082 liver cirrhosis ISO RGD:1344957 D RGD:14401589|PMID:25602745 20190513 RGD associated with hepatocellular carcinoma; mRNA:increased expression:liver (human) 69314 Smad7 SMAD family member 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344957 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 69314 Smad7 SMAD family member 7 gene DOID:630 genetic disease ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69314 Smad7 SMAD family member 7 gene DOID:6432 pulmonary hypertension IEP D RGD:1643222|PMID:17347486 20090204 RGD 69314 Smad7 SMAD family member 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1344957 D RGD:14401589|PMID:25602745 20190513 RGD mRNA:increased expression:liver (human) 69314 Smad7 SMAD family member 7 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:1643227|PMID:17166487 20170502 RGD mRNA:increased expression:hypoglossal nucleus 69314 Smad7 SMAD family member 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344957 D RGD:2300008|PMID:11078792 20080829 RGD DNA:polymorphism:cds 69314 Smad7 SMAD family member 7 gene DOID:9004018 Paraquat Lung ISO RGD:1344957 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23590892 69314 Smad7 SMAD family member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17934461 69314 Smad7 SMAD family member 7 gene DOID:9256 colorectal cancer ISO RGD:1344957 D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 PMID:17934461|PMID:18372901|PMID:18372905 69314 Smad7 SMAD family member 7 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1344957 D RGD:7240710 20200226 OMIM 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0080690 RASopathy ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0111123 nephronophthisis 15 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:1059 intellectual disability ISO RGD:735925 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735926|RGD:735925 D RGD:13801191|PMID:19760337 20181102 RGD 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:630 genetic disease ISO RGD:735925 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735925 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:9007661 Dwarfism ISO RGD:735925 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 69315 Fxyd6 FXYD domain-containing ion transport regulator 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735925 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 69316 Irs2 insulin receptor substrate 2 gene DOID:0050902 medulloblastoma ISO RGD:736204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 69316 Irs2 insulin receptor substrate 2 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:6483014|PMID:20846698 20120509 RGD 69316 Irs2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:10045878|PMID:19487308 20150619 RGD 69316 Irs2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:10045934|PMID:24887203 20150624 RGD mRNA:decreased expression:hippocampus: 69316 Irs2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:736204 D RGD:10045894|PMID:18479783 20150623 RGD protein:decreased expression:temporal cortex: 69316 Irs2 insulin receptor substrate 2 gene DOID:11476 osteoporosis IEP D RGD:7207063|PMID:22820932 20130830 RGD associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: 69316 Irs2 insulin receptor substrate 2 gene DOID:2222 factor X deficiency ISO RGD:736204 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 69316 Irs2 insulin receptor substrate 2 gene DOID:4195 hyperglycemia ISO RGD:736204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20028942|PMID:25808216 69316 Irs2 insulin receptor substrate 2 gene DOID:630 genetic disease ISO RGD:736204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69316 Irs2 insulin receptor substrate 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16127164 69316 Irs2 insulin receptor substrate 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 69316 Irs2 insulin receptor substrate 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736204 D RGD:7257702|PMID:23617393 20140129 RGD mRNA:increased expression:kidney tubule 69316 Irs2 insulin receptor substrate 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:7257699|PMID:20720385 20130830 RGD 69316 Irs2 insulin receptor substrate 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736204 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 69316 Irs2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4142788|PMID:20555424 20130830 RGD protein:decreased phosphorylation:heart 69316 Irs2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 69316 Irs2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 69316 Irs2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:1625025|PMID:15811564 20070517 RGD DNA:polymorphism:exon:G1057D 69316 Irs2 insulin receptor substrate 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736204 D RGD:1625023|PMID:11030756 20070517 RGD DNA:polymorphism:exon:G1057D 69316 Irs2 insulin receptor substrate 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736204 D RGD:7240710 20130221 OMIM 69316 Irs2 insulin receptor substrate 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736205 D RGD:10045938|PMID:14617753 20150624 RGD 69316 Irs2 insulin receptor substrate 2 gene DOID:9970 obesity ISO RGD:736204 D RGD:1331525|PMID:15118671 19990101 GAD 69318 Nkx6-1 NK6 homeobox 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1346979 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 69318 Nkx6-1 NK6 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69318 Nkx6-1 NK6 homeobox 1 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2311166|PMID:18687784 20100617 RGD 69318 Nkx6-1 NK6 homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 69318 Nkx6-1 NK6 homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 69319 Gnb2 G protein subunit beta 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733685 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69319 Gnb2 G protein subunit beta 2 gene DOID:630 genetic disease ISO RGD:733685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69319 Gnb2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:7240710 20211027 OMIM 69319 Gnb2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358 69319 Gnb2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:7240710 20210818 OMIM 69319 Gnb2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 PMID:25741868|PMID:28219978|PMID:31698099|PMID:34183358 69319 Gnb2 G protein subunit beta 2 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:733685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868 69319 Gnb2 G protein subunit beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733685 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33971351 69319 Gnb2 G protein subunit beta 2 gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:733685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism PMID:25741868 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:7240710 20190315 OMIM 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:904979 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408|PMID:904979 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:1351201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:16725361|PMID:21347589|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:2018 hyperinsulinism ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:5844 myocardial infarction IEP D RGD:2302229|PMID:11481570 20081204 RGD 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:7240710 20190315 OMIM 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:16725361|PMID:18414213|PMID:21347589|PMID:22579592|PMID:22662265|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302232|PMID:7050060 20081204 RGD 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351201 D RGD:2306664|PMID:14693719 20090429 RGD DNA:deletion:cds (human) 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22662265|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity IEP D RGD:2302228|PMID:16088331 20081204 RGD protein:increased expression:skeletal muscle 69321 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:1351201 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:733426 D RGD:126781766|PMID:16507107 20210420 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:126781771|PMID:19691460 20210420 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733426 D RGD:2289952|PMID:9470844 20080220 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:7240710 20130221 OMIM 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 PMID:17701904|PMID:25741868 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:733426 D RGD:11554173 20210907 CTD CTD Direct Evidence: marker/mechanism 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:7240710 20210818 OMIM 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive PMID:25741868|PMID:33497358 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:733426 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:733426 D RGD:2289946|PMID:17532856 20080220 RGD protein:altered localization:nucleus 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733426 D RGD:2298502|PMID:16685269 20080703 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:733426 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:23680147 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733426 D RGD:2289980|PMID:16469638 20080221 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733426 D RGD:2298506|PMID:14614020 20080703 RGD mRNA:increased expression:urinary bladder 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733426 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:126790474|PMID:22549618 20210422 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3083 chronic obstructive pulmonary disease IEP D RGD:2289953|PMID:17908459 20080220 RGD protein:increased expression:lung 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:363 uterine cancer ISO RGD:733426 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:733426 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733426 D RGD:126790479|PMID:11789762 20210422 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733426 D RGD:126790478|PMID:20364069 20210422 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:733426 D RGD:126790475|PMID:26824984 20210422 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:4948 gallbladder carcinoma ISO RGD:733426 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733426 D RGD:126781768|PMID:21709195 20210420 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:571 median neuropathy IEP D RGD:10449020|PMID:19296522 20151211 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:571 median neuropathy IEP D RGD:126790486|PMID:18845940 20210422 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:733426 D RGD:8554872 20171024 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:733426 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733426 D RGD:126781769|PMID:11355950 20210420 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:126781772|PMID:24997986 20210420 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2289967|PMID:11797086 20080221 RGD mRNA, protein:increased expression:spinal cord 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:126790467|PMID:20604875 20210422 RGD associated with head and neck squamous cell carcinoma 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:2289944|PMID:17634423 20080220 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:733426 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:23680147 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000473 Familial Visceral Neuropathy ISO RGD:733426 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial PMID:25741868 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000918 Disease Progression ISO RGD:733426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:2289944|PMID:17634423 20080220 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:bone, nucleus 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:2298500|PMID:18559590 20080703 RGD associated with Prostatic Neoplasms;protein:alternative form 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:733426 D RGD:126790470|PMID:26254096 20210422 RGD associated with lung adenocarcinoma 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634423 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002498 Wallerian Degeneration IEP D RGD:68774|PMID:9030624 20080221 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733426 D RGD:2298499|PMID:18575766 20080703 RGD mRNA, protein:increased expression:ovary 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733426 D RGD:2298501|PMID:16896008 20080703 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002801 Recurrence ISO RGD:733426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:733426 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23680147 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733426 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:733426 D RGD:2289947|PMID:17465227 20080220 RGD protein:increased expression:uterine cervix 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:733426 D RGD:2289951|PMID:11206334 20080220 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733426 D RGD:2289950|PMID:16962163 20080220 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733426 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12483526 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733426 D RGD:2289979|PMID:17203220 20080221 RGD 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007364 Mouth Neoplasms IEP D RGD:2289941|PMID:17704947 20080220 RGD protein:increased expression:oral epithelium 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733426 D RGD:2298505|PMID:10537356 20080703 RGD protein:increased expression:endometrium 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:7240710 20230505 OMIM 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: DI GUGLIELMO DISEASE, FAMILIAL PMID:27416908 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733426 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:733426 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:21638049|PMID:28114269 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:733426 D RGD:2289949|PMID:17465220 20080220 RGD mRNA:increased expression:breast 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:733426 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733426 D RGD:2289942|PMID:18182100 20080220 RGD DNA:amplification 69323 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733426 D RGD:126781774|PMID:24825912 20210420 RGD 69324 Ogfr opioid growth factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 69324 Ogfr opioid growth factor receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 69324 Ogfr opioid growth factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 69324 Ogfr opioid growth factor receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737296 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 69324 Ogfr opioid growth factor receptor gene DOID:1826 epilepsy ISO RGD:737296 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 69324 Ogfr opioid growth factor receptor gene DOID:630 genetic disease ISO RGD:737296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:7240710 20141015 OMIM 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY PMID:11502818|PMID:12161514|PMID:15507506|PMID:16705068|PMID:18182448|PMID:19116240|PMID:21159840|PMID:21880796|PMID:23337730|PMID:24033266|PMID:25741868|PMID:26300845|PMID:27008691|PMID:28492532|PMID:29178636|PMID:30233493|PMID:30299480|PMID:30620006 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735631 D RGD:1599693|PMID:12161514 20070212 RGD DNA:splice-site mutation 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735631 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:10763 hypertension IEP D RGD:1599701|PMID:16116051 20070212 RGD mRNA:increased expression:hypothalamus 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:11446 sciatic neuropathy IEP D RGD:4889134|PMID:16632873 20101129 RGD protein:increased expression:spinal cord dorsal horn (rat) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:1824 status epilepticus IEP D RGD:1599696|PMID:16780839 20070212 RGD Protein:increased expression:brain 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:1924 hypogonadism IEP D RGD:4833436|PMID:17880366 20101118 RGD mRNA:decreased expression:testis (rat) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:2527 nephrosis IEP D RGD:1599698|PMID:16574160 20070212 RGD mRNA:decreased expression 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:2717 Bloom syndrome ISO RGD:735631 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:4195 hyperglycemia IEP D RGD:4785271|PMID:18353182 20101118 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:5419 schizophrenia ISO RGD:735631 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9000998 Brain Injuries IEP D RGD:1599699|PMID:16329132 20070212 RGD mRNA:increased expression:hindbrain 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:4832477|PMID:17881205 20101118 RGD mRNA:increased expression:adrenal gland, maternal (rat) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:735631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9003936 Cardiomegaly IEP D RGD:4145630|PMID:19349910 20101110 RGD mRNA:increased expression:cardiac muscle tissue (rat) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9003936 Cardiomegaly ISO RGD:735632 D RGD:4145630|PMID:19349910 20101110 RGD mRNA:increased expression:cardiac muscle tissue (mouse) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:4145530|PMID:20826654 20101109 RGD mRNA:decreased expression:sciatic nerve (rat) 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:735631 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9256 colorectal cancer ISO RGD:735631 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 69325 Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:4889107|PMID:18481435 20101124 RGD mRNA:decreased expression:testis, Leydig cell (rat) 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:1059 intellectual disability ISO RGD:735885 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:1909 melanoma ISO RGD:735885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:2746 glycogen storage disease V ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:3070 high grade glioma ISO RGD:735885 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:630 genetic disease ISO RGD:735885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:7240710 20201111 OMIM 69326 Arl2 ADP-ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 PMID:30945270 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0110415 retinitis pigmentosa 2 ISS RGD:737247 D RGD:13592920 20180518 MouseDO OMIM:312600 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISS RGD:737247 D RGD:13592920 20180518 MouseDO OMIM:263200 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:7240710 20190315 OMIM 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 83 PMID:25741868|PMID:26964041|PMID:28492532|PMID:30932721 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:33748123 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:630 genetic disease ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:7240710 20190315 OMIM 69327 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 35 PMID:25741868|PMID:28492532|PMID:30269812 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0050553 JMP syndrome ISO RGD:735341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:8662376|PMID:12162767 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735341 D RGD:8662371|PMID:10873097 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:8662374|PMID:15817070 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma no_association ISO RGD:735341 D RGD:8662395|PMID:18251939 20140623 RGD DNA:polymorphism: :98C>A(human) 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735341 D RGD:8662371|PMID:10873097 20140620 RGD DNA:polymorphism:exon:149A>G(human) 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0060071 pre-malignant neoplasm treatment IEP D RGD:10043364|PMID:23857431 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:735341 D RGD:2289659|PMID:12628841 20080205 RGD protein:increased expression:breast 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:8662360|PMID:16043935 20140620 RGD mRNA,protein:increased expression:atriim 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732911 D RGD:8662844|PMID:16462758 20140625 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:735341 D RGD:8547768|PMID:20369488 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:10283 prostate cancer ISO RGD:735341 D RGD:2289639|PMID:18237448 20080204 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735341 D RGD:8661806|PMID:15807891 20140617 RGD DNA:polymorphism:cds:p.S31R(human) 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735341 D RGD:8661807|PMID:14738489 20140617 RGD DNA:polymorphism:cds:p.S31R(human) 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1073 renal hypertension IEP D RGD:2289672|PMID:17439406 20080205 RGD protein:decreased expression:vascular associated smooth muscle cell 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:10964 cholesteatoma of middle ear ISO RGD:735341 D RGD:8661795|PMID:23324739 20140617 RGD protein:increased expression: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:10966 lipoid nephrosis treatment IEP D RGD:10043363|PMID:24119646 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:11054 urinary bladder cancer ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18640142 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:11335 sarcoidosis ISO RGD:735341 D RGD:8662819|PMID:12885947 20140625 RGD mRNA:increased expression:skin: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:732911 D RGD:8661808|PMID:22956607 20140617 RGD mRNA,protein:increased expression:cornea,nucleus: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735341 D RGD:8661808|PMID:22956607 20140617 RGD protein:increased expression:nucleus: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:12236 primary biliary cholangitis ISO RGD:735341 D RGD:8662434|PMID:18456456 20140624 RGD protein:increased expression:epithelial cell: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:12689 acoustic neuroma ISO RGD:735341 D RGD:8661792|PMID:20600642 20140617 RGD mRNA,protein:decreased expression:myelinated nerve: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma ISO RGD:735341 D RGD:8662856|PMID:11028856 20140625 RGD associated with Varicose Ulcer;protein:increased expression:skin: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:8662356|PMID:9655223 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1790 malignant mesothelioma ISO RGD:735341 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:11453316 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:8662421|PMID:22311377 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:8662817|PMID:9194578 20140625 RGD protein:increased expression:skin 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:732911 D RGD:8662432|PMID:10430900 20140624 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:8662351|PMID:11684723 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:2671 transitional cell carcinoma ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:18640142 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:735341 D RGD:8662837|PMID:15646812 20140625 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:305 carcinoma ISO RGD:732911 D RGD:8662432|PMID:10430900 20140624 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:730870 D RGD:13702125|PMID:20844987 20180717 RGD DNA:hypermethylation:promoter: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:13702128|PMID:18791688 20180717 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3070 high grade glioma treatment ISO RGD:735341 D RGD:13702129|PMID:9144534 20180717 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735341 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:735341 D RGD:8662305|PMID:16012716 20140619 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3179 inverted papilloma ISO RGD:735341 D RGD:8662353|PMID:19863319 20140620 RGD protein:increased expression:nucleus: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3179 inverted papilloma ISO RGD:735341 D RGD:8662357|PMID:21608063 20140620 RGD protein:increased expression:nucleus: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735341 D RGD:8662851|PMID:17671118 20140625 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735341 D RGD:11554173 20200407 CTD CTD Direct Evidence: therapeutic PMID:15375580 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735341 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:4448 macular degeneration ISO RGD:735341 D RGD:10043353|PMID:20054800 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:4905 pancreatic carcinoma ISO RGD:735341 D RGD:8662427|PMID:9252195 20140624 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735341 D RGD:8662389|PMID:11745255 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:557 kidney disease ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:5759 sebaceous gland neoplasm ISO RGD:735341 D RGD:8662839|PMID:12354803 20140625 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:735341 D RGD:8662821|PMID:18981426 20140625 RGD protein:increased expression:pituitary gland: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:630 genetic disease ISO RGD:735341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment IEP D RGD:10043361|PMID:24412385 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:732911 D RGD:10043360|PMID:24334871 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:684 hepatocellular carcinoma ISS RGD:732911 D RGD:13592920 20180518 MouseDO OMIM:114550 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:7910 maxillary sinus squamous cell carcinoma ISO RGD:735341 D RGD:8662355|PMID:15040115 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:8472 localized scleroderma ISO RGD:732911 D RGD:8662838|PMID:15803328 20140625 RGD mRNA,protein:increased expression:skin: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:8577 ulcerative colitis disease_progression ISO RGD:735341 D RGD:8662406|PMID:15743319 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:8893 psoriasis ISO RGD:735341 D RGD:8662825|PMID:7636313 20140625 RGD mRNA,protein:increased expression:skin: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease IEP D RGD:2289666|PMID:17714589 20080205 RGD protein:decreased expression:kidney 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735341 D RGD:8662446|PMID:9546362 20140624 RGD protein:increased expression:epithelial cell: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000040 Hypertrophy ISO RGD:735341 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:8661799|PMID:19628749 20140617 RGD associated with Eyelid Neoplasms; 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:8662374|PMID:15817070 20140620 RGD associated with Oral Squamous Cell Carcinoma; 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000117 Esophageal Neoplasms disease_progression ISO RGD:735341 D RGD:8662379|PMID:11903577 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms IEP D RGD:13792775|PMID:23890812 20150522 RGD protein:increased expression:stomach 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000332 Hypovolemia IEP D RGD:10043817|PMID:10451498 20150528 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000403 Animal Mammary Neoplasms onset ISO RGD:732911 D RGD:8662404|PMID:11103935 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000965 Neoplasm Metastasis ISO RGD:735341 D RGD:8662817|PMID:9194578 20140625 RGD associated with Melanoma; 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9000998 Brain Injuries IEP D RGD:8662346|PMID:9914434 20140620 RGD protein:increased expression:nucleus: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:8662309|PMID:8640740 20140619 RGD protein:decreased expression:liver: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002085 Congenital Cholesteatoma ISO RGD:735341 D RGD:8661795|PMID:23324739 20140617 RGD protein:increased expression: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:735341 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002221 Hyperplasia IEP D RGD:13792775|PMID:23890812 20150522 RGD protein:increased expression 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002234 Pituitary Neoplasms ISO RGD:732911 D RGD:8662821|PMID:18981426 20140625 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:732911 D RGD:8662377|PMID:11212250 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11535846|PMID:12468628 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12727815|PMID:15598783 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002644 Premature Aging ISO RGD:732911 D RGD:10043192|PMID:23207764 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002762 Ovarian Neoplasms ISO RGD:735341 D RGD:2289661|PMID:9006333 20080205 RGD protein:decreased expression:ovary 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:732911 D RGD:8661793|PMID:21187137 20140617 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9003036 Oral Lichen Planus ISO RGD:735341 D RGD:8662419|PMID:12076323 20140623 RGD protein:increased expression:mucosa: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9003216 Salivary Gland Neoplasms onset ISO RGD:732911 D RGD:8662404|PMID:11103935 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735341 D RGD:2289651|PMID:18203777 20080204 RGD protein:decreased expression:uterine cervix 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury IEP D RGD:10043817|PMID:10451498 20150528 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004240 Phyllodes Tumor severity ISO RGD:735341 D RGD:2289654|PMID:17090194 20080204 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004464 Skin Neoplasms ISO RGD:732911 D RGD:8662813|PMID:9264409 20140625 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004484 Sepsis IEP D RGD:10043817|PMID:10451498 20150528 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004547 Thyroid Neoplasms IEP D RGD:13792775|PMID:23890812 20150522 RGD protein:decreased expression:thyroid gland 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9004994 Embryo Loss ISO RGD:735341 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9005172 Lung Neoplasms ISO RGD:735341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:18508827 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:8662307|PMID:24828139 20140619 RGD protein:increased expression:testes: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:735341 D RGD:8662423|PMID:11488071 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007170 Bowen's Disease ISO RGD:735341 D RGD:8662826|PMID:10583111 20140625 RGD protein:increased expression:skin: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007188 Liver Neoplasms ISO RGD:735341 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007400 Lip Neoplasms ISO RGD:735341 D RGD:8662391|PMID:17238970 20140623 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007479 Habitual Abortions ISO RGD:735341 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia IEP D RGD:2289663|PMID:18082050 20080205 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:732911 D RGD:10043823|PMID:9476904 20150528 RGD protein:increased expression:lung 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007558 Acute Experimental Pancreatitis IEP D RGD:10043817|PMID:10451498 20150528 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:735341 D RGD:2289683|PMID:16837908 20080625 RGD protein:increased expression:endometrium 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:735341 D RGD:2296047|PMID:15099969 20080625 RGD DNA:polymorphism:cds:p.S31R 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9007964 Arsenic Poisoning ISO RGD:735341 D RGD:8662429|PMID:11860939 20140624 RGD protein:increased expression:skin: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9008824 Sarcopenia treatment ISO RGD:732911 D RGD:10043356|PMID:20022929 20150522 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735341 D RGD:2289652|PMID:18174243 20080204 RGD DNA:snp: :rs3176336 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735341 D RGD:2289656|PMID:16537179 20080204 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9074 systemic lupus erythematosus ISS RGD:732911 D RGD:13592920 20180518 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:916 liver benign neoplasm IEP D RGD:13792775|PMID:23890812 20150522 RGD protein:increased expression:liver 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9206 Barrett's esophagus ISO RGD:735341 D RGD:8662398|PMID:11753681 20140623 RGD protein:increased expression:nucleus of esophagus mucosa: 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9282 ocular hypertension ISO RGD:735341 D RGD:8661805|PMID:14985792 20140617 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia ISO RGD:735341 D RGD:8662371|PMID:10873097 20140620 RGD 69328 Cdkn1a cyclin-dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:735341 D RGD:8662371|PMID:10873097 20140620 RGD DNA:polymorphism:exon:149A>G(human) 69329 Mapt microtubule-associated protein tau gene DOID:0050700 cardiomyopathy ISO RGD:736496 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 69329 Mapt microtubule-associated protein tau gene DOID:0050880 Koolen de Vries syndrome ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:25741868|PMID:26467025|PMID:28492532 69329 Mapt microtubule-associated protein tau gene DOID:0050888 syndromic intellectual disability ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 69329 Mapt microtubule-associated protein tau gene DOID:0060224 atrial fibrillation ISO RGD:736496 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 69329 Mapt microtubule-associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:7240710 20130221 OMIM 69329 Mapt microtubule-associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:26467025|PMID:28492532 69329 Mapt microtubule-associated protein tau gene DOID:0080855 Parkinsonism ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10802785|PMID:19458322 69329 Mapt microtubule-associated protein tau gene DOID:0080855 Parkinsonism treatment IDA D RGD:13801017|PMID:27228974 20181026 RGD 69329 Mapt microtubule-associated protein tau gene DOID:0081292 traumatic brain injury IDA D RGD:13800902|PMID:28412141 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:0081292 traumatic brain injury IDA D RGD:13800909|PMID:26729399 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:0081292 traumatic brain injury IEP D RGD:13800912|PMID:26484783 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:0081292 traumatic brain injury treatment IDA D RGD:13800917|PMID:25771151 20181023 RGD 69329 Mapt microtubule-associated protein tau gene DOID:10283 prostate cancer ISO RGD:736496 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69329 Mapt microtubule-associated protein tau gene DOID:1059 intellectual disability ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26467025|PMID:28492532 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease IDA D RGD:13782165|PMID:29126976 20181019 RGD 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:734496 D RGD:1302530|PMID:11520987 19990101 RGD 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:10412709|PMID:8226987 20151123 RGD protein:hyperphosphorylation:brain: 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12852432|PMID:14517953|PMID:15750215|PMID:20157255|PMID:21715663|PMID:25352456|PMID:27117003 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:127284889|PMID:29368621 20210615 RGD protein:increased expression:CSF (human) 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease no_association ISO RGD:736496 D RGD:8158097|PMID:19308965 20140207 RGD DNA:SNPs, haplotypes:promoter:rs242557 (human) 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:10412701|PMID:18587238 20151120 RGD DNA:mutation:cds:p.R406W(human) 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:8158105|PMID:23116876 20140210 RGD DNA:SNP, haplotypes:promoter:rs242557 (human) 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease treatment IDA D RGD:13800904|PMID:28342971 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease treatment IDA D RGD:13800908|PMID:27060945 20181026 RGD 69329 Mapt microtubule-associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:736496 D RGD:10412704|PMID:19252918 20151123 RGD 69329 Mapt microtubule-associated protein tau gene DOID:11162 respiratory failure ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14595660 69329 Mapt microtubule-associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9641683|PMID:10604746|PMID:11117542|PMID:11601501 69329 Mapt microtubule-associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:7240710 20130221 OMIM 69329 Mapt microtubule-associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:10604746|PMID:11032905|PMID:11117542|PMID:11601501|PMID:11891833|PMID:18067537|PMID:23043292|PMID:25741868|PMID:26467025|PMID:27582388|PMID:27641626|PMID:27802239|PMID:28492532|PMID:30090657 69329 Mapt microtubule-associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:127284880|PMID:31541342 20210615 RGD protein:increased expression:CSF (human) 69329 Mapt microtubule-associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:127284881|PMID:30309804 20210615 RGD protein:increased expression:CSF (human) 69329 Mapt microtubule-associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF, serum (human) 69329 Mapt microtubule-associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:127284889|PMID:29368621 20210615 RGD protein:increased expression:CSF (human) 69329 Mapt microtubule-associated protein tau gene DOID:1289 neurodegenerative disease ISO RGD:736496 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:9789048 69329 Mapt microtubule-associated protein tau gene DOID:1307 dementia ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11889249|PMID:22300406 69329 Mapt microtubule-associated protein tau gene DOID:1307 dementia ISO RGD:736496 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dementia PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11402146|PMID:11641718|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:14755449|PMID:15372253|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:27594586|PMID:28097206|PMID:28492532|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683 69329 Mapt microtubule-associated protein tau gene DOID:1307 dementia disease_progression ISO RGD:736496 D RGD:10412700|PMID:20930301 20151120 RGD DNA:haplotype: : 69329 Mapt microtubule-associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19915575|PMID:20711177 69329 Mapt microtubule-associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8158095|PMID:19879020 20140207 RGD DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) 69329 Mapt microtubule-associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8158096|PMID:18162161 20140207 RGD DNA:SNPs, haplotypes: :multiple 69329 Mapt microtubule-associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8158106|PMID:18785640 20140210 RGD DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human) 69329 Mapt microtubule-associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:26467025|PMID:28492532 69329 Mapt microtubule-associated protein tau gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736496 D RGD:8158107|PMID:22221882 20140210 RGD DNA:SNP:intron: (rs8070723) (human) 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder IDA D RGD:13800916|PMID:25782579 20181023 RGD associated with Hypothermia 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder IDA D RGD:13800922|PMID:24978200 20181023 RGD associated with hypothyroidism 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder IDA D RGD:13800925|PMID:24335173 20181023 RGD associated with Insulin Resistance 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder IDA D RGD:13801008|PMID:25683673 20181023 RGD associated with obesity 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder IDA D RGD:13801018|PMID:24993525 20181026 RGD associated with Hypoxia 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder ISO RGD:736496 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:24556215|PMID:26945731 69329 Mapt microtubule-associated protein tau gene DOID:1561 cognitive disorder treatment IDA D RGD:13800924|PMID:24484683 20181023 RGD 69329 Mapt microtubule-associated protein tau gene DOID:1612 breast cancer disease_progression ISO RGD:736496 D RGD:8158093|PMID:18668363 20140207 RGD 69329 Mapt microtubule-associated protein tau gene DOID:1826 epilepsy treatment IDA D RGD:13800901|PMID:28595035 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:2030 anxiety disorder ISO RGD:736496 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:29860433 69329 Mapt microtubule-associated protein tau gene DOID:2316 brain ischemia IDA D RGD:1599927|PMID:15353210 20070221 RGD protein:increased phosphorylation 69329 Mapt microtubule-associated protein tau gene DOID:3328 temporal lobe epilepsy ISO RGD:736496 D RGD:13800901|PMID:28595035 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:3525 middle cerebral artery infarction IEP D RGD:13800886|PMID:28886009 20181019 RGD 69329 Mapt microtubule-associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:736497 D RGD:13800886|PMID:28886009 20181019 RGD 69329 Mapt microtubule-associated protein tau gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:13800913|PMID:25903928 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:4752 multiple system atrophy ISO RGD:736496 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:25741868 69329 Mapt microtubule-associated protein tau gene DOID:4990 essential tremor no_association ISO RGD:736496 D RGD:8158098|PMID:22911817 20140207 RGD DNA:SNP: :rs1052553 (human) 69329 Mapt microtubule-associated protein tau gene DOID:630 genetic disease ISO RGD:736496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10318930|PMID:10624829|PMID:12615641|PMID:15376481|PMID:17071927|PMID:19659892|PMID:25741868|PMID:25937274|PMID:26467025|PMID:27975259|PMID:28492532|PMID:30279455 69329 Mapt microtubule-associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:12325083|PMID:19458322|PMID:21685912|PMID:25402454 69329 Mapt microtubule-associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:7240710 20130221 OMIM 69329 Mapt microtubule-associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:8158095|PMID:19879020 20140207 RGD DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) 69329 Mapt microtubule-associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:8158100|PMID:15792962 20140207 RGD DNA:SNPs, haplotypes:: 69329 Mapt microtubule-associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:14595660|PMID:15489396|PMID:15831501|PMID:16157753|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 69329 Mapt microtubule-associated protein tau gene DOID:678 progressive supranuclear palsy onset ISO RGD:736496 D RGD:8158099|PMID:16839689 20140207 RGD 69329 Mapt microtubule-associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:10604746|PMID:11889249|PMID:14595660|PMID:24556215|PMID:27569447 69329 Mapt microtubule-associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:13800888|PMID:28721361 20181019 RGD 69329 Mapt microtubule-associated protein tau gene DOID:680 tauopathy treatment IDA D RGD:13800905|PMID:27998769 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:680 tauopathy treatment ISO RGD:736496 D RGD:8158094|PMID:22874558 20140207 RGD 69329 Mapt microtubule-associated protein tau gene DOID:684 hepatocellular carcinoma ISO RGD:736496 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 69329 Mapt microtubule-associated protein tau gene DOID:8725 vascular dementia treatment IDA D RGD:13792766|PMID:27118553 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:8927 learning disability ISO RGD:736496 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 69329 Mapt microtubule-associated protein tau gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:8158113|PMID:22052241 20140211 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736496 D RGD:127284887|PMID:27929120 20210615 RGD protein:increased expression:CSF, serum (human) 69329 Mapt microtubule-associated protein tau gene DOID:9001366 Psychomotor Agitation ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 69329 Mapt microtubule-associated protein tau gene DOID:9001981 Weight Loss ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 69329 Mapt microtubule-associated protein tau gene DOID:9002644 Premature Aging ISO RGD:736497 D RGD:10412708|PMID:16171847 20151123 RGD protein:hyperphosphorylation:brain: 69329 Mapt microtubule-associated protein tau gene DOID:9002720 Splenomegaly ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 69329 Mapt microtubule-associated protein tau gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment IDA D RGD:1358431|PMID:15494405 19990101 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9003676 Brain Hypoxia-Ischemia treatment IDA D RGD:13782373|PMID:25665755 20181023 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9004657 Weight Gain ISO RGD:736496 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29203278 69329 Mapt microtubule-associated protein tau gene DOID:9004866 Ataxia ISO RGD:736496 D RGD:11554173 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 69329 Mapt microtubule-associated protein tau gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:13800903|PMID:28400135 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9005725 Iron Overload treatment IDA D RGD:13800907|PMID:27403880 20181022 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736496 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 69329 Mapt microtubule-associated protein tau gene DOID:9006205 Animal Disease Models ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 69329 Mapt microtubule-associated protein tau gene DOID:9007402 Gliosis ISO RGD:736496 D RGD:8158112|PMID:19155101 20140210 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9008023 Memory Disorders IDA D RGD:1358432|PMID:15524282 19990101 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9008023 Memory Disorders ISO RGD:736496 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:12368474|PMID:24556215|PMID:29203278|PMID:29860433 69329 Mapt microtubule-associated protein tau gene DOID:9008394 Drug-Induced Dyskinesia treatment IDA D RGD:13800920|PMID:25511986 20181023 RGD associated with Parkinsonian Disorders 69329 Mapt microtubule-associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:7240710 20130221 OMIM 69329 Mapt microtubule-associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical PSP PMID:25741868|PMID:26467025|PMID:28492532 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:10412699|PMID:19766248 20151120 RGD DNA:mutation:splice junction: IVS10+16C>T(human) 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:10412702|PMID:16407562 20151120 RGD 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9641683|PMID:9789048|PMID:10802785|PMID:11117542|PMID:11912108|PMID:16495328 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:1302531|PMID:9641683 19990101 RGD DNA:missense mutations, splice site mutations:exon, intron:multiple 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:7240710 20130221 OMIM 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:10076890|PMID:10100642|PMID:10202939|PMID:10208578|PMID:10214944|PMID:10219785|PMID:10318930|PMID:10329720|PMID:10374757|PMID:10412802|PMID:10443890|PMID:10446810|PMID:10489057|PMID:10514099|PMID:10553987|PMID:10604746|PMID:10624829|PMID:10627302|PMID:10767321|PMID:10775534|PMID:10797541|PMID:10802785|PMID:10820221|PMID:10821687|PMID:10822460|PMID:10932182|PMID:11013246|PMID:11032905|PMID:11071507|PMID:11102510|PMID:11115852|PMID:11117541|PMID:11117542|PMID:11117553|PMID:11159174|PMID:11255441|PMID:11278002|PMID:11402146|PMID:11456301|PMID:11641718|PMID:11708988|PMID:11756436|PMID:11756496|PMID:11889249|PMID:11891833|PMID:11912108|PMID:11921059|PMID:11971081|PMID:11971082|PMID:12325083|PMID:12368474|PMID:12473404|PMID:12473774|PMID:12509859|PMID:12615641|PMID:12722177|PMID:12796837|PMID:12847166|PMID:12876142|PMID:1416801|PMID:14517953|PMID:14568818|PMID:14755449|PMID:15178938|PMID:15178940|PMID:15365985|PMID:15372253|PMID:15376481|PMID:15489396|PMID:15831501|PMID:15883319|PMID:16219306|PMID:16240366|PMID:16416390|PMID:16477083|PMID:16495230|PMID:16503405|PMID:17071927|PMID:17526496|PMID:17576681|PMID:17923640|PMID:18067537|PMID:18093153|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18628315|PMID:18803694|PMID:18851693|PMID:18854867|PMID:18992292|PMID:19091059|PMID:19263483|PMID:19304664|PMID:19365643|PMID:19458322|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20561037|PMID:20598713|PMID:20634584|PMID:21094706|PMID:21176711|PMID:21339331|PMID:21343707|PMID:21344240|PMID:21849646|PMID:22022446|PMID:22118943|PMID:22312439|PMID:22556362|PMID:22595371|PMID:22723997|PMID:2273997|PMID:22787795|PMID:22818528|PMID:22906081|PMID:23043292|PMID:23047372|PMID:23053136|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23518664|PMID:23680655|PMID:23692670|PMID:23727082|PMID:23752245|PMID:23881933|PMID:23885714|PMID:23990795|PMID:24018212|PMID:24081456|PMID:24150109|PMID:25319522|PMID:25466404|PMID:25592136|PMID:25604855|PMID:25617006|PMID:25671699|PMID:25683866|PMID:25741868|PMID:25937274|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26200045|PMID:26220942|PMID:26269332|PMID:26295349|PMID:26297556|PMID:26333800|PMID:26426266|PMID:26467025|PMID:26519432|PMID:26601740|PMID:26931567|PMID:27082848|PMID:27094865|PMID:27439681|PMID:27582388|PMID:27594586|PMID:27606344|PMID:27641626|PMID:27776828|PMID:27802239|PMID:27975259|PMID:28097206|PMID:28130473|PMID:28268100|PMID:28334843|PMID:28462717|PMID:28492532|PMID:28923025|PMID:29091718|PMID:29253099|PMID:29525180|PMID:30090657|PMID:30279455|PMID:30528841|PMID:31059154|PMID:31404212|PMID:31542321|PMID:31836585|PMID:32171587|PMID:32843152|PMID:33580635|PMID:34274155|PMID:7783864|PMID:7936288|PMID:7977375|PMID:8673924|PMID:8926492|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9536098|PMID:9629852|PMID:9636220|PMID:9641683|PMID:9736786|PMID:9789048|PMID:9824291|PMID:9973279 69329 Mapt microtubule-associated protein tau gene DOID:9255 frontotemporal dementia no_association ISO RGD:736496 D RGD:8158108|PMID:17386961 20140210 RGD DNA:haplotype 69329 Mapt microtubule-associated protein tau gene DOID:9970 obesity IDA D RGD:13800921|PMID:25257559 20181023 RGD 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:734312 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:3652 Leigh disease ISO RGD:734312 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25125611|PMID:26099313 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:3652 Leigh disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25393721|PMID:25741868|PMID:28492532|PMID:32677908|PMID:33139125|PMID:33163364 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:630 genetic disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26467025|PMID:27090768|PMID:28039521|PMID:28492532|PMID:30008475|PMID:31216405|PMID:31219693|PMID:32677093|PMID:32677908|PMID:32858208 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:7240710 20170510 OMIM 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency PMID:17576681|PMID:25125611|PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26251176|PMID:26467025|PMID:26938784|PMID:27090768|PMID:27905109|PMID:28039521|PMID:28202214|PMID:28409271|PMID:28429146|PMID:28492532|PMID:29575569|PMID:30008475|PMID:30029642|PMID:30634555|PMID:31216405|PMID:31219693|PMID:32013919|PMID:32313153|PMID:32642440|PMID:32677093|PMID:32677908|PMID:32858208|PMID:33112498|PMID:33139125|PMID:33163364|PMID:9536098 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734312 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 69330 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9970 obesity ISO RGD:734312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 69331 Git1 GIT ArfGAP 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 69331 Git1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:11344918|PMID:21499268 20160708 RGD DNA:polymorphism:intron 69331 Git1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 69331 Git1 GIT ArfGAP 1 gene DOID:12858 Huntington's disease ISO RGD:732720 D RGD:1549448|PMID:15383276 19990101 RGD protein:decreased expression:cerebral cortex (human) 69331 Git1 GIT ArfGAP 1 gene DOID:630 genetic disease ISO RGD:732720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69331 Git1 GIT ArfGAP 1 gene DOID:9002362 Hyperkinesis ISO RGD:732720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 69331 Git1 GIT ArfGAP 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732720 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 69331 Git1 GIT ArfGAP 1 gene DOID:9008023 Memory Disorders ISO RGD:732720 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 69331 Git1 GIT ArfGAP 1 gene DOID:9008582 Developmental Disease ISO RGD:732720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 69332 Ifitm2 interferon induced transmembrane protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352409 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 69332 Ifitm2 interferon induced transmembrane protein 2 gene DOID:0080600 COVID-19 ISO RGD:1352409 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 69332 Ifitm2 interferon induced transmembrane protein 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1352409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 69332 Ifitm2 interferon induced transmembrane protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352409 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 69332 Ifitm2 interferon induced transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1352409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69333 Msln mesothelin gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 69333 Msln mesothelin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 69333 Msln mesothelin gene DOID:14566 disease of cellular proliferation ISO RGD:1349818 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:23277285 69333 Msln mesothelin gene DOID:1532 pleural disease ISO RGD:1349818 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:23277285 69333 Msln mesothelin gene DOID:1790 malignant mesothelioma ISO RGD:1349818 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:19190155|PMID:27032653 69333 Msln mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 69333 Msln mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:2326052|PMID:19843662 20100618 RGD 69333 Msln mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:2326056|PMID:18281514 20100618 RGD 69333 Msln mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:2326060|PMID:17019794 20100618 RGD associated with Pancreatic Disease; protein:increased expression:pancreas 69333 Msln mesothelin gene DOID:1793 pancreatic cancer ISO RGD:1349818 D RGD:2326062|PMID:17785569 20100618 RGD 69333 Msln mesothelin gene DOID:1826 epilepsy ISO RGD:1349818 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 69333 Msln mesothelin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349818 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 69333 Msln mesothelin gene DOID:2394 ovarian cancer ISO RGD:1349818 D RGD:2326057|PMID:17581599 20100618 RGD 69333 Msln mesothelin gene DOID:2394 ovarian cancer ISO RGD:1349818 D RGD:2326062|PMID:17785569 20100618 RGD 69333 Msln mesothelin gene DOID:26 pancreas disease ISO RGD:1349818 D RGD:2326052|PMID:19843662 20100618 RGD protein:increased expression:serum 69333 Msln mesothelin gene DOID:299 adenocarcinoma ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 69333 Msln mesothelin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14576474|PMID:21775916|PMID:25347530 69333 Msln mesothelin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349818 D RGD:2326065|PMID:12874021 20100618 RGD DNA:hypomethylation:5'UTR 69333 Msln mesothelin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1349818 D RGD:2326055|PMID:19818733 20100618 RGD protein:increased secretion:serum 69333 Msln mesothelin gene DOID:4608 common bile duct neoplasm ISO RGD:1349818 D RGD:2326064|PMID:16416732 20100618 RGD protein:increased expression:common bile duct, ampulla of vater 69333 Msln mesothelin gene DOID:4897 bile duct carcinoma ISO RGD:1349818 D RGD:2326059|PMID:17276942 20100618 RGD protein:increased expression:bile duct 69333 Msln mesothelin gene DOID:4947 cholangiocarcinoma ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14576474 69333 Msln mesothelin gene DOID:630 genetic disease ISO RGD:1349818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69333 Msln mesothelin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22644300 69333 Msln mesothelin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349818 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:22644300|PMID:35396937 69333 Msln mesothelin gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349818 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35396937 69333 Msln mesothelin gene DOID:9000918 Disease Progression ISO RGD:1349818 D RGD:11554173 20230117 CTD CTD Direct Evidence: marker/mechanism PMID:35396937 69333 Msln mesothelin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751476 69333 Msln mesothelin gene DOID:9002899 Mesothelial Neoplasms ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20371980|PMID:21984916 69333 Msln mesothelin gene DOID:9003566 Mesothelioma IEP D RGD:2326046|PMID:18505465 20100618 RGD protein:increased secretion:body fluid 69333 Msln mesothelin gene DOID:9003566 Mesothelioma ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11751476|PMID:18394747|PMID:20933535 69333 Msln mesothelin gene DOID:9003566 Mesothelioma ISO RGD:1349818 D RGD:2326062|PMID:17785569 20100618 RGD 69333 Msln mesothelin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1349818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14576474 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:7240710 20140911 OMIM 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 61 PMID:12719379|PMID:16086836|PMID:24033266|PMID:24164807|PMID:25262649|PMID:25741868|PMID:26467025|PMID:28492532 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1621439 D RGD:9585667|PMID:19363478 20140919 RGD mRNA:decreased expression:organ of Corti (mouse) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism IEP D RGD:9585686|PMID:17520268 20140919 RGD protein:altered expression:cochlear outer hair cell (rat) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:1621439 D RGD:9585687|PMID:19176829 20140919 RGD Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603482 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:630 genetic disease ISO RGD:1603482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9000307 Presbycusis IEP D RGD:9585690|PMID:19111601 20140919 RGD protein:altered expression:cochlear outer hair cell (rat) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1621439 D RGD:9585684|PMID:24376553 20140919 RGD mRNA, protein:increased expression:cochlea (mouse) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1603482 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34273409 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1603482 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:30311386 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1603482 D RGD:9479050|PMID:12719379 20140826 RGD DNA:snp:intron:IVS2-2A>G (human) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1621439 D RGD:9479049|PMID:15319415 20140826 RGD 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss no_association ISO RGD:1603482 D RGD:9479051|PMID:16086836 20140826 RGD DNA:snp:intron:IVS2-2A>G (human) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1603482 D RGD:7364803|PMID:23554706 20140918 RGD DNA:snp:intron:IVS2-2A>G (human) 69334 Slc26a5 solute carrier family 26 member 5 gene DOID:9008681 Deafness ISO RGD:1603482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12719379 69335 Trpv6 transient receptor potential cation channel, subfamily V, member 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:731367 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 69335 Trpv6 transient receptor potential cation channel, subfamily V, member 6 gene DOID:13543 hyperparathyroidism ISO RGD:731367 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:30144375 69335 Trpv6 transient receptor potential cation channel, subfamily V, member 6 gene DOID:630 genetic disease ISO RGD:731367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69335 Trpv6 transient receptor potential cation channel, subfamily V, member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:7240710 20190315 OMIM 69335 Trpv6 transient receptor potential cation channel, subfamily V, member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal PMID:25741868|PMID:25741888|PMID:27296226|PMID:28492532|PMID:28878326|PMID:29258289|PMID:29861107|PMID:30820485 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:0060041 autism spectrum disorder ISO RGD:737332 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:1059 intellectual disability ISO RGD:737332 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:1080 filariasis ISO RGD:737333 D RGD:40903014|PMID:24626328 20210106 RGD 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:12140 Chagas disease ISO RGD:737332 D RGD:40902989|PMID:29545200 20210106 RGD mRNA:increased expression:plancenta (human) 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:1725 peritoneum cancer severity ISO RGD:737332 D RGD:40902993|PMID:28439450 20201221 RGD associated with colorectal cancer;protein:decreased expression:colorectum, eosinophil (human) 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma ISO RGD:737332 D RGD:13506944|PMID:22022864 20180226 RGD associated with cough;protein:increased expression:sputum: 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma disease_progression ISO RGD:737332 D RGD:13506943|PMID:24450586 20180226 RGD associated with viral infection;mRNA:increased expression:sputum: 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma no_association ISO RGD:737333 D RGD:13506942|PMID:11067904 20180226 RGD 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:2841 asthma severity ISO RGD:737332 D RGD:13506941|PMID:16982448 20180226 RGD mRNA:increased expression:eosinophil: 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:630 genetic disease ISO RGD:737332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:9006771 Chronic Rhinosinusitis disease_progression ISO RGD:737332 D RGD:13506943|PMID:24450586 20180226 RGD associated with Nasal Polyps; 69336 Prg2 proteoglycan 2, pro eosinophil major basic protein gene DOID:9970 obesity ISO RGD:737332 D RGD:9068941 20210108 RGD mRNA:decreased expression:placenta (human) PMID:28125591|REF_RGD_ID:40902990 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604803 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532|PMID:32376792 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0050690 brachyolmia ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0080001 bone disease ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21964574|PMID:22187434 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0080006 bone development disease ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10463355|PMID:12884428|PMID:14755468|PMID:17879966|PMID:18587396|PMID:19232556|PMID:20037588|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21573172|PMID:21658220|PMID:21964829|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22702953|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:25703509|PMID:25741868|PMID:25802885|PMID:26048687|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26467025|PMID:26948711|PMID:27530454|PMID:28492532|PMID:28687525|PMID:29776788|PMID:32381727|PMID:34008892|PMID:6628444 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:1604803 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20037586|PMID:20037587|PMID:20037588 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:7240710 20180711 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C PMID:10463355|PMID:11891693|PMID:12884428|PMID:14755468|PMID:1520078|PMID:15668982|PMID:16199547|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:23306656|PMID:24319099|PMID:24342753|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26046366|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27066566|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29770609|PMID:29776788|PMID:29858556|PMID:30214761|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31407473|PMID:31468327|PMID:31475037|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISS RGD:735797 D RGD:13592920 20180518 MouseDO OMIM:605583 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:10463355|PMID:1520078|PMID:15668982|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21115951|PMID:21288981|PMID:21454511|PMID:22065612|PMID:22291064|PMID:22526352|PMID:22702953|PMID:24319099|PMID:24789864|PMID:25741868|PMID:26048687|PMID:26467025|PMID:26948711|PMID:28492532|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111202 distal hereditary motor neuronopathy type 7B ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:20037588 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:7240710 20130731 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111215 distal hereditary motor neuronopathy type 8 ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII PMID:10463355|PMID:15668982|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31475037|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA PMID:25326637|PMID:25741868|PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20425821 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:7240710 20130221 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia PMID:14755468|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27530454|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:7240710 20130221 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parastremmatic dwarfism PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20037587|PMID:20037588 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:7240710 20130221 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:1520078|PMID:15668982|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22065612|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:31475037|PMID:32376792|PMID:32579787|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:7240710 20130221 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2 | ClinVar Annotator: match by term: SED, Maroteaux type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:6628444|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:7240710 20130221 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:10463355|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:1604803 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22187434 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21270786|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:25974703|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:11836 clubfoot ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:20037587|PMID:20037588|PMID:21288981|PMID:21454511|PMID:24319099|PMID:24789864|PMID:25741868|PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22187434 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:2256 osteochondrodysplasia ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18587396 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:2661 myoepithelioma ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:3070 high grade glioma ISO RGD:1604803 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:33629929 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21245013 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:440 neuromuscular disease ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:12884428|PMID:1520078|PMID:15668982|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22065612|PMID:22419508|PMID:22675077|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:630 genetic disease ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11891693|PMID:14755468|PMID:15152081|PMID:1520078|PMID:15668982|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25741868|PMID:25900305|PMID:26046366|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:65 connective tissue disease ISO RGD:1604803 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:19666518|PMID:22419508|PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:8398 osteoarthritis ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21964574 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9000655 Hereditary Motor Neuropathy with Myopathic Features ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuromyopathy PMID:12884428|PMID:1520078|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22419508|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31468327|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:7240710 20190315 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:7240710 20130221 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9003919 Urination Disorders ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20956320 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9004825 Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal ISO RGD:1604803 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal PMID:20425821|PMID:20577006|PMID:25741868 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19666518 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:7240710 20181003 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sodium serum level quantitative trait locus 1 PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:7240710 20141015 OMIM 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly PMID:11891693|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21964574|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 69337 Trpv4 transient receptor potential cation channel, subfamily V, member 4 gene DOID:9008855 Brachyolmia Type 2 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:6628444|PMID:8179305 69338 Slc22a6 solute carrier family 22 member 6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:619572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 69338 Slc22a6 solute carrier family 22 member 6 gene DOID:1059 intellectual disability ISO RGD:619572 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69338 Slc22a6 solute carrier family 22 member 6 gene DOID:182 calcinosis ISO RGD:619572 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12803500 69338 Slc22a6 solute carrier family 22 member 6 gene DOID:630 genetic disease ISO RGD:619572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69339 Nup210 nucleoporin 210 gene DOID:0060417 3p deletion syndrome ISO RGD:1346505 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 69339 Nup210 nucleoporin 210 gene DOID:630 genetic disease ISO RGD:1346505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69340 Calb1 calbindin 1 gene DOID:2741 bilirubin metabolic disorder IEP D RGD:633843|PMID:12204357 19990101 RGD 69340 Calb1 calbindin 1 gene DOID:557 kidney disease ISO RGD:732083 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21865292 69340 Calb1 calbindin 1 gene DOID:630 genetic disease ISO RGD:732083 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69342 Serpinb5 serpin family B member 5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:69089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 69342 Serpinb5 serpin family B member 5 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:69089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 69342 Serpinb5 serpin family B member 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:69089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19944674 69342 Serpinb5 serpin family B member 5 gene DOID:630 genetic disease ISO RGD:69089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69342 Serpinb5 serpin family B member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69089 D RGD:11520929|PMID:26296971 20191007 RGD associated with hepatitis B; 69342 Serpinb5 serpin family B member 5 gene DOID:9000058 Keloid ISO RGD:69089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 69342 Serpinb5 serpin family B member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 69342 Serpinb5 serpin family B member 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:69089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 69342 Serpinb5 serpin family B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16331619 69342 Serpinb5 serpin family B member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69089 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 69345 Glg1 golgi glycoprotein 1 gene DOID:607 paraplegia ISO RGD:734388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 69345 Glg1 golgi glycoprotein 1 gene DOID:630 genetic disease ISO RGD:734388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69345 Glg1 golgi glycoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734388 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69346 Wnt2b Wnt family member 2B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:733303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 69346 Wnt2b Wnt family member 2B gene DOID:1911 endodermal sinus tumor ISO RGD:733303 D RGD:2298800|PMID:16822086 20080725 RGD 69346 Wnt2b Wnt family member 2B gene DOID:3307 teratoma ISO RGD:733303 D RGD:2298800|PMID:16822086 20080725 RGD 69346 Wnt2b Wnt family member 2B gene DOID:630 genetic disease ISO RGD:733303 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69346 Wnt2b Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:7240710 20190315 OMIM 69346 Wnt2b Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:8554872 20181211 ClinVar ClinVar Annotator: match by term: Diarrhea 9 PMID:29909964 69346 Wnt2b Wnt family member 2B gene DOID:9001276 Failure to Thrive ISO RGD:733303 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:29909964 69346 Wnt2b Wnt family member 2B gene DOID:9007096 Stroke ISO RGD:733303 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 69348 Shc3 SHC adaptor protein 3 gene DOID:630 genetic disease ISO RGD:737159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69348 Shc3 SHC adaptor protein 3 gene DOID:9005834 Ependymomas ISO RGD:737159 D RGD:13782069|PMID:19748727 20180817 RGD DNA:amplification:brain: 69349 Stmn4 stathmin 4 gene DOID:630 genetic disease ISO RGD:733859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69350 Pcdh8 protocadherin 8 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:735353 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 69350 Pcdh8 protocadherin 8 gene DOID:1059 intellectual disability ISO RGD:735353 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 69350 Pcdh8 protocadherin 8 gene DOID:630 genetic disease ISO RGD:735353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69350 Pcdh8 protocadherin 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 69351 Sox11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:7240710 20170510 OMIM 69351 Sox11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532|PMID:28787104|PMID:31292255|PMID:32860008|PMID:33086258|PMID:33785884|PMID:35341651|PMID:35642566|PMID:35938035 69351 Sox11 SRY-box transcription factor 11 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 69351 Sox11 SRY-box transcription factor 11 gene DOID:1925 Coffin-Siris syndrome ISO RGD:735734 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism 69351 Sox11 SRY-box transcription factor 11 gene DOID:1925 Coffin-Siris syndrome ISO RGD:735734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868|PMID:26543203 69351 Sox11 SRY-box transcription factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISS RGD:735735 D RGD:13592920 20180518 MouseDO OMIM:261800 69351 Sox11 SRY-box transcription factor 11 gene DOID:630 genetic disease ISO RGD:735734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15254231|PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532 69351 Sox11 SRY-box transcription factor 11 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 69351 Sox11 SRY-box transcription factor 11 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735734 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 69351 Sox11 SRY-box transcription factor 11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 69351 Sox11 SRY-box transcription factor 11 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 69352 Slc6a18 solute carrier family 6 member 18 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1346320 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 69352 Slc6a18 solute carrier family 6 member 18 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1346320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 69352 Slc6a18 solute carrier family 6 member 18 gene DOID:10763 hypertension ISO RGD:1346320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15121838 69352 Slc6a18 solute carrier family 6 member 18 gene DOID:630 genetic disease ISO RGD:1346320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69352 Slc6a18 solute carrier family 6 member 18 gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1346320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:0080208 non-alcoholic fatty liver disease treatment ISO RGD:732279 D RGD:21408561|PMID:31961704 20200316 RGD 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:10603 glucose intolerance treatment ISO RGD:732279 D RGD:21408561|PMID:31961704 20200316 RGD 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:630 genetic disease ISO RGD:732278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:732279 D RGD:21408561|PMID:31961704 20200316 RGD 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 69353 Ech1 enoyl-CoA hydratase 1 gene DOID:9970 obesity treatment ISO RGD:732279 D RGD:21408561|PMID:31961704 20200316 RGD 69354 Capn10 calpain 10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 69354 Capn10 calpain 10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 69354 Capn10 calpain 10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:732443 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 69354 Capn10 calpain 10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 69354 Capn10 calpain 10 gene DOID:1059 intellectual disability ISO RGD:732443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 69354 Capn10 calpain 10 gene DOID:1059 intellectual disability ISO RGD:732443 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69354 Capn10 calpain 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:732443 D RGD:1625046|PMID:17106059 20070517 RGD DNA:SNPs 69354 Capn10 calpain 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:732443 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to PMID:11017071|PMID:11481585|PMID:12161543|PMID:14574648|PMID:14602801 69354 Capn10 calpain 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732443 D RGD:4107073|PMID:20178008 20100714 RGD DNA:SNP:intron:rs3792267 (human) 69354 Capn10 calpain 10 gene DOID:630 genetic disease ISO RGD:732443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69354 Capn10 calpain 10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 69354 Capn10 calpain 10 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7247733|PMID:22012129 20130730 RGD associated with Diabetes Mellitus, Experimental 69354 Capn10 calpain 10 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7247732|PMID:22568896 20130730 RGD mRNA, protein:decreased expression:kidney cortex 69354 Capn10 calpain 10 gene DOID:9006646 Metabolic Syndrome ISO RGD:732443 D RGD:1625050|PMID:16546286 20070517 RGD DNA:polymorphism 69354 Capn10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:7240710 20130731 OMIM 69354 Capn10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus 1, susceptibility to PMID:11017071|PMID:11481585|PMID:12107250|PMID:12161543|PMID:14574648|PMID:14602801|PMID:15240652|PMID:16721485|PMID:25741868|PMID:25773692 69354 Capn10 calpain 10 gene DOID:9007692 Insulin Resistance ISO RGD:732443 D RGD:7247736|PMID:11018080 20130730 RGD DNA:SNP:intron:rs3792267 (human) 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus IAGP D RGD:737693|PMID:14658759 20070518 RGD DNA:SNP 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1625063|PMID:14646187 20070518 RGD mRNA:decreased expression 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23349674 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:1625049|PMID:16721485 20070517 RGD DNA:polymorphism 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:4107074|PMID:19688040 20100714 RGD mRNA:increased expression:pancreas 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:7247734|PMID:20406624 20130730 RGD associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:7247735|PMID:18554168 20130730 RGD DNA:SNP:intron:rs2975760 (human) 69354 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736979 D RGD:7247733|PMID:22012129 20130730 RGD 69354 Capn10 calpain 10 gene DOID:9970 obesity ISO RGD:732443 D RGD:1625047|PMID:16752174 20070517 RGD DNA:SNPs 69355 Lgals1 galectin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 69355 Lgals1 galectin 1 gene DOID:0080600 COVID-19 ISO RGD:1347735 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69355 Lgals1 galectin 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1347735 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69355 Lgals1 galectin 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69355 Lgals1 galectin 1 gene DOID:10952 nephritis ISO RGD:1347735 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11044214 69355 Lgals1 galectin 1 gene DOID:10966 lipoid nephrosis IEP D RGD:2316526|PMID:19079321 20100216 RGD protein:decreased expression:glomerulus, podocytes (rat) 69355 Lgals1 galectin 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69355 Lgals1 galectin 1 gene DOID:13619 extrahepatic cholestasis IEP D RGD:2316551|PMID:18225978 20100223 RGD mRNA:increased expression:liver (rat) 69355 Lgals1 galectin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 69355 Lgals1 galectin 1 gene DOID:5082 liver cirrhosis ISO RGD:1347735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 69355 Lgals1 galectin 1 gene DOID:630 genetic disease ISO RGD:1347735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69355 Lgals1 galectin 1 gene DOID:707 B-cell lymphoma IEP D RGD:2316550|PMID:16733672 20100216 RGD protein:increased expression:primary tumor (rat) 69355 Lgals1 galectin 1 gene DOID:9000058 Keloid ISO RGD:1347735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 69355 Lgals1 galectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69356 Lgals3 galectin 3 gene DOID:0080600 COVID-19 ISO RGD:736304 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69356 Lgals3 galectin 3 gene DOID:0080600 COVID-19 severity ISO RGD:736304 D RGD:151356744|PMID:35115644 20220214 RGD 69356 Lgals3 galectin 3 gene DOID:10763 hypertension treatment IEP D RGD:9685203|PMID:23117656 20141229 RGD 69356 Lgals3 galectin 3 gene DOID:1094 attention deficit hyperactivity disorder IEP D RGD:9685226|PMID:20557304 20141230 RGD protein:decreased expression:brain 69356 Lgals3 galectin 3 gene DOID:10952 nephritis ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11044214 69356 Lgals3 galectin 3 gene DOID:1712 aortic valve stenosis ISO RGD:736304 D RGD:9685214|PMID:15520318 20141229 RGD 69356 Lgals3 galectin 3 gene DOID:178 vascular disease ISO RGD:736304 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 69356 Lgals3 galectin 3 gene DOID:1909 melanoma ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23994248 69356 Lgals3 galectin 3 gene DOID:219 colon cancer treatment IEP D RGD:150530464|PMID:28032729 20211208 RGD 69356 Lgals3 galectin 3 gene DOID:2316 brain ischemia IEP D RGD:9685227|PMID:10931529 20141230 RGD 69356 Lgals3 galectin 3 gene DOID:2841 asthma treatment ISO RGD:736304 D RGD:9685213|PMID:16424226 20141229 RGD 69356 Lgals3 galectin 3 gene DOID:3021 acute kidney failure IEP D RGD:9685228|PMID:10980121 20141230 RGD mRNA:increased expression:kidney 69356 Lgals3 galectin 3 gene DOID:3070 high grade glioma disease_progression IEP D RGD:9685225|PMID:23179497 20141230 RGD 69356 Lgals3 galectin 3 gene DOID:5082 liver cirrhosis ISO RGD:736304 D RGD:9685224|PMID:16549783 20141230 RGD 69356 Lgals3 galectin 3 gene DOID:5844 myocardial infarction ISO RGD:736304 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 69356 Lgals3 galectin 3 gene DOID:6000 congestive heart failure IEP D RGD:9685214|PMID:15520318 20141229 RGD 69356 Lgals3 galectin 3 gene DOID:630 genetic disease ISO RGD:736304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69356 Lgals3 galectin 3 gene DOID:8398 osteoarthritis ISO RGD:736304 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:34894372 69356 Lgals3 galectin 3 gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:9685206|PMID:17706429 20141229 RGD mRNA, protein:increased expression:brain 69356 Lgals3 galectin 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 69356 Lgals3 galectin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21750908 69356 Lgals3 galectin 3 gene DOID:9000740 ST Elevation Myocardial Infarction ISO RGD:736304 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 69356 Lgals3 galectin 3 gene DOID:9000784 Fibrosis ISO RGD:736304 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 69356 Lgals3 galectin 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25882088 69356 Lgals3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:9685223|PMID:12646584 20141230 RGD 69356 Lgals3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549783|PMID:25380136 69356 Lgals3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736305 D RGD:9685224|PMID:16549783 20141230 RGD 69356 Lgals3 galectin 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:1625684|PMID:16507131 20141230 RGD 69356 Lgals3 galectin 3 gene DOID:9002514 Neointima IEP D RGD:9685205|PMID:9688561 20141229 RGD mRNA:increased expression:thoracic aorta 69356 Lgals3 galectin 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 69356 Lgals3 galectin 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736304 D RGD:32716380|PMID:20189883 20200626 RGD mRNA:increased expression:CD19+Bcell: 69356 Lgals3 galectin 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:9685210|PMID:21249158 20141229 RGD 69356 Lgals3 galectin 3 gene DOID:9005749 Necrosis ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 69356 Lgals3 galectin 3 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9685228|PMID:10980121 20141230 RGD mRNA:increased expression:kidney 69356 Lgals3 galectin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 69356 Lgals3 galectin 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736304 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16322222 69356 Lgals3 galectin 3 gene DOID:9452 fatty liver disease ISS RGD:736305 D RGD:13592920 20180518 MouseDO OMIM:228100 69356 Lgals3 galectin 3 gene DOID:9744 type 1 diabetes mellitus IEP D RGD:9685204|PMID:16600178 20141229 RGD 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0110255 cataract 5 multiple types ISO RGD:736416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:736416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:6000 congestive heart failure ISO RGD:736416 D RGD:2311701|PMID:18056528 20090730 RGD mRNA, protein:decreased expression:heart 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:630 genetic disease ISO RGD:736416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736417 D RGD:2311702|PMID:17525370 20090730 RGD 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056528 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736417 D RGD:2311701|PMID:18056528 20090730 RGD 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9007692 Insulin Resistance ISO RGD:736416 D RGD:2311703|PMID:16537411 20090730 RGD 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9008939 Breast Neoplasms ISO RGD:736416 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:2311704|PMID:15161552 20090730 RGD associated with Obesity;DNA:polymorphism:intron:4681C>T (human) 69357 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:2311705|PMID:10024077 20090731 RGD DNA:repeat:intron (human) 69358 Sost sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:11554173 20180320 CTD CTD Direct Evidence: marker/mechanism 69358 Sost sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:68858|PMID:11179006 20070116 RGD DNA:transition: :69C>T (human) 69358 Sost sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:7240710 20180314 OMIM 69358 Sost sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sclerosteosis 1 PMID:11179006|PMID:11181578|PMID:19072561|PMID:25741868|PMID:25984533|PMID:28492532 69358 Sost sclerostin gene DOID:0080006 bone development disease ISO RGD:737334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerosing Bone Dysplasias PMID:28492532 69358 Sost sclerostin gene DOID:0080036 SOST-related sclerosing bone dysplasia ISS RGD:737335 D RGD:13592920 20230511 MouseDO OMIM:239100 69358 Sost sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:7240710 20141015 OMIM 69358 Sost sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:8554872 20141021 ClinVar ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant PMID:17853455|PMID:21221996 69358 Sost sclerostin gene DOID:630 genetic disease ISO RGD:737334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69359 Cmklr1 chemerin chemokine-like receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:1348723 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 69359 Cmklr1 chemerin chemokine-like receptor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1348723 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 69359 Cmklr1 chemerin chemokine-like receptor 1 gene DOID:630 genetic disease ISO RGD:1348723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69360 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:0080600 COVID-19 ISO RGD:1344783 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69360 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:2717 Bloom syndrome ISO RGD:1344783 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 69360 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1344783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69360 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:9256 colorectal cancer ISO RGD:1344783 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 69361 Uncx UNC homeobox gene DOID:630 genetic disease ISO RGD:1626690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349485 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:10595 Charcot-Marie-Tooth disease severity IEP D RGD:9686084|PMID:22189569 20150130 RGD 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:10595 Charcot-Marie-Tooth disease severity ISO RGD:1349485 D RGD:9686084|PMID:22189569 20150130 RGD 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:10763 hypertension ISO RGD:1349485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1349485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:1826 epilepsy ISO RGD:1349485 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:5419 schizophrenia ISO RGD:1349485 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69362 Gstt2 glutathione S-transferase theta 2 gene DOID:630 genetic disease ISO RGD:1349485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:0050457 Sertoli cell-only syndrome ISS RGD:732432 D RGD:13592920 20180518 MouseDO OMIM:305700 | OMIM:400042 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736958 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:4989 pancreatitis ISO RGD:736958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16822955 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:5419 schizophrenia ISO RGD:736958 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:630 genetic disease ISO RGD:736958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736958 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:9455 lipid storage disease ISO RGD:736958 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 69363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:9775 diastolic heart failure ISO RGD:736958 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:17347258|PMID:19589774|PMID:26633542|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050562 West syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:14504318|PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572417 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:735777 D RGD:1358571|PMID:11823106 19990101 RGD DNA:missense mutation:cds:p.V1417A (human) 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:24337656|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28492532|PMID:32090326|PMID:32427350 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISS RGD:735778 D RGD:13592920 20180518 MouseDO OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:18621678|PMID:19220312|PMID:20301562|PMID:25741868|PMID:26467025|PMID:28012175|PMID:28492532|PMID:31880072 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:18930999|PMID:20100831|PMID:20522430|PMID:21844054|PMID:21864321|PMID:22151702|PMID:23195492|PMID:23808377|PMID:24277604|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27267376|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28842445|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:31782251 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32238909 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32238909|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0070309 absence epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:7240710 20180228 OMIM 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17000989|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18680191|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20431604|PMID:20452746|PMID:20491869|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21753172|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23773995|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30142967|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30735520|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31102827|PMID:31139143|PMID:31164858|PMID:31439038|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32488064|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:32056211 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080718 GNE myopathy ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE PMID:12083760|PMID:15277629|PMID:17054685|PMID:18076640|PMID:21248271|PMID:25741868|PMID:28102150|PMID:28492532|PMID:28708303 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735777 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:7240710 20130221 OMIM 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:11254444|PMID:11254445|PMID:11359211|PMID:11940708|PMID:12083760|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14738421|PMID:15277634|PMID:16054936|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17054685|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19332696|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19589774|PMID:19809937|PMID:20431604|PMID:20522430|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21396429|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24328833|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25401298|PMID:25525159|PMID:25669891|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26232052|PMID:26236192|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:27113213|PMID:27231140|PMID:27236449|PMID:27465585|PMID:27864847|PMID:28079314|PMID:28148630|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28544625|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29145747|PMID:29186148|PMID:29358611|PMID:29739726|PMID:29745119|PMID:29852413|PMID:30258939|PMID:30321769|PMID:30498473|PMID:30619928|PMID:30868114|PMID:31730442|PMID:31765958|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32090326|PMID:32581362|PMID:34489640|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:7240710 20130221 OMIM 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:727292|PMID:10742094 19990101 RGD DNA:missense mutations:cds:p.T875M, p.R1648H (human) 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16326807|PMID:16458823|PMID:16505326|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19236456|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20194124|PMID:20301494|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25525159|PMID:25576396|PMID:25741868|PMID:25754450|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28735751|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29358611|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30034362|PMID:30142967|PMID:30321769|PMID:30525188|PMID:30619928|PMID:30659983|PMID:31031587|PMID:31164858|PMID:31755124|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32581362|PMID:33391346|PMID:33895391|PMID:34489640|PMID:35082603|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12919402|PMID:14672992|PMID:14702334|PMID:16075041|PMID:16525050|PMID:17507202|PMID:17561957|PMID:18076640|PMID:18413471|PMID:18804930|PMID:18930999|PMID:19464195|PMID:20117752|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:21719429|PMID:21864321|PMID:22525008|PMID:22780858|PMID:23195492|PMID:23945787|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26990884|PMID:27066544|PMID:28084635|PMID:28192756|PMID:28202706|PMID:28492532|PMID:29141311|PMID:9126059 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:735777 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: FEB1 PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25754450|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518218|PMID:28525652|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1059 intellectual disability ISO RGD:735777 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1059 intellectual disability ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:11254445|PMID:11359211|PMID:12610651|PMID:12821740|PMID:14738421|PMID:17054684|PMID:17347258|PMID:17561957|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:20879882|PMID:21868258|PMID:22150645|PMID:22612257|PMID:22848613|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26990884|PMID:28084635|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29948376|PMID:32538476 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:10907 microcephaly ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:14672992|PMID:17347258|PMID:25741868|PMID:28492532|PMID:32581362 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:12712 nephronophthisis ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:12849 autistic disorder ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:11254445|PMID:12566275|PMID:12610651|PMID:14672992|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19200853|PMID:19522081|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23195492|PMID:23934111|PMID:25741868|PMID:26990884|PMID:28148630|PMID:28492532|PMID:29358611|PMID:32581362 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1826 epilepsy ISO RGD:735777 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:15805193|PMID:19694741|PMID:23708187|PMID:29942082 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1826 epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure Disorders PMID:11254444|PMID:11254445|PMID:12083760|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29358611|PMID:29852413|PMID:30735520|PMID:31302675|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:2234 focal epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar Annotator: match by term: Focal-onset seizure PMID:12566275|PMID:14672992|PMID:16199547|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:22071555|PMID:22156295|PMID:22409937|PMID:23527921|PMID:23917401|PMID:23934111|PMID:24328833|PMID:25741868|PMID:26188943|PMID:26467025|PMID:27465585|PMID:27781031|PMID:28148630|PMID:28492532|PMID:32238909|PMID:32581362 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25525159|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29358611|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:31031587|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581362|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:11254445|PMID:12610651|PMID:18021921|PMID:19200853|PMID:19522081|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23195492|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:480 movement disease ISO RGD:735777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12907273 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:630 genetic disease ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12821740|PMID:14504318|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:20196795|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22150645|PMID:22151702|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24679980|PMID:24848745|PMID:25459968|PMID:25525159|PMID:25741868|PMID:25754450|PMID:25795284|PMID:26096185|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26845707|PMID:26934580|PMID:26990884|PMID:27029629|PMID:27231140|PMID:27236449|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28150151|PMID:28183995|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28735751|PMID:28842445|PMID:28951233|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29429461|PMID:29601086|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29852413|PMID:29948376|PMID:30182498|PMID:31009440|PMID:31164858|PMID:31302675|PMID:31765958|PMID:31864146|PMID:32056211|PMID:32461654|PMID:33391346|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9000343 Vision Disorders ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9001716 Hip Contracture ISO RGD:735777 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Hip contracture PMID:17561957|PMID:30311386 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21480876 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy PMID:11359211|PMID:14504318|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:21719429|PMID:22848613|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9002914 Familial Sudden Death ISO RGD:735777 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9003133 Hypertelorism ISO RGD:735777 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735777 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19763161|PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735777 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:12907273|PMID:19099883|PMID:21480876|PMID:29929108|PMID:30123852 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735777 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735777 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9006942 Familial Febrile Seizures 3A ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3a PMID:15805193|PMID:16326807|PMID:17001291|PMID:17436242|PMID:19289736|PMID:19949041|PMID:22188362|PMID:22292851|PMID:22591328|PMID:22992668|PMID:26314341|PMID:26555147|PMID:28492532 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:29601086 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20210218 RGD 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:735777 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21480876|PMID:25344690|PMID:25362483 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:735777 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Febrile seizures 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures susceptibility IMP D RGD:12792282|PMID:20410126 20170315 RGD DNA:missense mutations:cds:p.E539A,p.N1417H(rat) 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:20522430|PMID:22071555|PMID:22409937|PMID:22848613|PMID:23895530|PMID:23934111|PMID:24656210|PMID:25401298|PMID:25741868|PMID:28012175|PMID:28148630|PMID:28492532|PMID:28794249|PMID:31791873|PMID:32581362 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9008265 Developmental and Epileptic Encephalopathy 6B ISO RGD:735777 D RGD:7240710 20210526 OMIM 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9008265 Developmental and Epileptic Encephalopathy 6B ISO RGD:735777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet PMID:11940708|PMID:12083760|PMID:12566275|PMID:12821740|PMID:16199547|PMID:17054684|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18804930|PMID:18930999|PMID:19350499|PMID:19563349|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:21248271|PMID:21868258|PMID:21906962|PMID:22071555|PMID:22092154|PMID:22409937|PMID:22848613|PMID:23195492|PMID:23708187|PMID:23821540|PMID:23895530|PMID:23934111|PMID:24656210|PMID:24776920|PMID:25401298|PMID:25525159|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:26990884|PMID:26993267|PMID:27465585|PMID:28148630|PMID:28202706|PMID:28492532|PMID:28794249|PMID:29056246|PMID:29745119|PMID:29852413|PMID:30034362|PMID:30321769|PMID:30619928|PMID:31791873|PMID:32581362|PMID:9536098 69364 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9009021 Plagiocephaly ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 69365 Rasa3 RAS p21 protein activator 3 gene DOID:12449 aplastic anemia ISS RGD:737295 D RGD:13592920 20191212 MouseDO OMIM:609135 69365 Rasa3 RAS p21 protein activator 3 gene DOID:2222 factor X deficiency ISO RGD:1343935 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 69365 Rasa3 RAS p21 protein activator 3 gene DOID:630 genetic disease ISO RGD:1343935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69365 Rasa3 RAS p21 protein activator 3 gene DOID:9007661 Dwarfism ISO RGD:1343935 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 69366 Ldhc lactate dehydrogenase C gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 69366 Ldhc lactate dehydrogenase C gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349750 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 69366 Ldhc lactate dehydrogenase C gene DOID:1059 intellectual disability ISO RGD:1349750 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69366 Ldhc lactate dehydrogenase C gene DOID:12336 male infertility ISO RGD:1349750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21565994|PMID:23486916 69366 Ldhc lactate dehydrogenase C gene DOID:630 genetic disease ISO RGD:1349750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69366 Ldhc lactate dehydrogenase C gene DOID:850 lung disease ISO RGD:1349750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 69367 Prom1 prominin 1 gene DOID:0050439 Usher syndrome ISO RGD:1345263 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Usher syndrome 69367 Prom1 prominin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10205271|PMID:16199547|PMID:17605048|PMID:19718270|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24474277|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538|PMID:31199449 69367 Prom1 prominin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1345263 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 69367 Prom1 prominin 1 gene DOID:0050817 Stargardt disease ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10205271|PMID:12657606|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:9536098 69367 Prom1 prominin 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17605048|PMID:19718270|PMID:24154662|PMID:24938718|PMID:25474345|PMID:25741868|PMID:28492532|PMID:31054281 69367 Prom1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:7240710 20130425 OMIM 69367 Prom1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 41 PMID:10205271|PMID:10587575|PMID:16199547|PMID:17605048|PMID:19718270|PMID:20042663|PMID:24154662|PMID:24516651|PMID:24938718|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:29343940|PMID:29555955|PMID:30578500|PMID:30588538|PMID:31054281|PMID:31129250|PMID:31199449 69367 Prom1 prominin 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 69367 Prom1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:7240710 20130221 OMIM 69367 Prom1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23591405|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:31199449|PMID:32820593|PMID:33546218 69367 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30718709 69367 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30588538|PMID:30718709 69367 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362 69367 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593 69367 Prom1 prominin 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1345263 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32673656 69367 Prom1 prominin 1 gene DOID:3068 glioblastoma ISO RGD:1345263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18679414|PMID:18829568|PMID:19718438 69367 Prom1 prominin 1 gene DOID:4448 macular degeneration ISO RGD:1345263 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10205271|PMID:12657606|PMID:18654668|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:25356976|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30718709 69367 Prom1 prominin 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 69367 Prom1 prominin 1 gene DOID:630 genetic disease ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69367 Prom1 prominin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1331934 D RGD:11344640|PMID:26569409 20210421 RGD mRNA:increased expression:liver (mouse) 69367 Prom1 prominin 1 gene DOID:8501 fundus dystrophy ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:24154662|PMID:24265693|PMID:24547909|PMID:24763286|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:26872967|PMID:27208204|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30029497|PMID:30576320|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:32581362|PMID:33546218 69367 Prom1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:7240710 20130221 OMIM 69367 Prom1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29416601|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31576780|PMID:32820593|PMID:33546218 69367 Prom1 prominin 1 gene DOID:9002240 Retinal Macular Dystrophy 2 ISO RGD:1345263 D RGD:7240710 20130221 OMIM 69367 Prom1 prominin 1 gene DOID:9002240 Retinal Macular Dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30215852|PMID:30718709|PMID:32820593 69367 Prom1 prominin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 69367 Prom1 prominin 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 69367 Prom1 prominin 1 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 69367 Prom1 prominin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345263 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 69367 Prom1 prominin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18829568 69367 Prom1 prominin 1 gene DOID:9351 diabetes mellitus IDA D RGD:68837|PMID:11237753 19990101 RGD 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:20478850|PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25348405|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28842445|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:374104|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20358599|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070309 absence epilepsy ISO RGD:737151 D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0080422 Dravet syndrome ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111112 nephronophthisis 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111297 familial febrile seizures ISO RGD:737151 D RGD:8554872 20190903 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111307 familial febrile seizures 1 ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:25741868|PMID:28492532|PMID:31394368 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17145499|PMID:17679678 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:7240710 20190315 OMIM 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:15955112|PMID:17145499|PMID:18414213|PMID:18518989|PMID:18599537|PMID:19369487|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20478850|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737151 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21698661|PMID:28492532 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:10907 microcephaly ISO RGD:737151 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:12712 nephronophthisis ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:1826 epilepsy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:308 early myoclonic encephalopathy ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar Annotator: match by term: Morvan disease PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18414213|PMID:20478850|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:28492532|PMID:29358611 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25401298|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29933521|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25316021|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9002272 Small Fiber Neuropathy ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:18414213|PMID:19763161|PMID:21698661|PMID:22035805|PMID:22539570|PMID:22826602|PMID:23280954|PMID:23850641|PMID:23895530|PMID:24088041|PMID:24817410|PMID:24820863|PMID:25250524|PMID:25316021|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26633545|PMID:27301361|PMID:27525141|PMID:27608006|PMID:27843123|PMID:28073787|PMID:28235406|PMID:28492532|PMID:29176367|PMID:29358611|PMID:29961513|PMID:30478917|PMID:30569495|PMID:31193310 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:737151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9002834 Herpesviridae Infections ISO RGD:737151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9005968 Neuralgia ISO RGD:737151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19557861 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9006202 Pruritus ISO RGD:737151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24820863 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008001 Familial Febrile Seizures 3B ISO RGD:737151 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3b PMID:19763161|PMID:25741868|PMID:28492532|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008086 Developmental Disabilities ISO RGD:737151 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:16385454|PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:7240710 20130221 OMIM 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:15955112|PMID:16385454|PMID:17167479|PMID:17470132|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Indifference to Pain | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated | ClinVar Annotator: match by term: Pain insensitivity PMID:15955112|PMID:16385454|PMID:17167479|PMID:17470132|PMID:17576681|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28914264|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936|PMID:374104|PMID:9536098 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008520 Chronic Pain ISO RGD:737151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21634377 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145499|PMID:19549232|PMID:19557861 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:1599515|PMID:14985375 20070206 RGD 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:1599517|PMID:16216943 20070206 RGD 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:7240710 20130221 OMIM 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:1536168|PMID:15385606|PMID:15955112|PMID:15958509|PMID:16216943|PMID:16392115|PMID:16702558|PMID:16988069|PMID:17101882|PMID:17135418|PMID:17294067|PMID:17985268|PMID:18171466|PMID:18347287|PMID:18414213|PMID:18518989|PMID:19369487|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23149731|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28658526|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30702961|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296 69368 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9993 hypoglycemia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 69398 G6pc2 glucose-6-phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1344189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69398 G6pc2 glucose-6-phosphatase catalytic subunit 2 gene DOID:9744 type 1 diabetes mellitus ISS RGD:69438 D RGD:13592920 20180518 MouseDO OMIM:222100 69399 Vgf VGF nerve growth factor inducible gene DOID:10808 gastric ulcer ISO RGD:69439 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20805684 69399 Vgf VGF nerve growth factor inducible gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69439 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69399 Vgf VGF nerve growth factor inducible gene DOID:630 genetic disease ISO RGD:69439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69399 Vgf VGF nerve growth factor inducible gene DOID:9002916 Hyperphagia ISO RGD:69439 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:12177191 69399 Vgf VGF nerve growth factor inducible gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69439 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 69399 Vgf VGF nerve growth factor inducible gene DOID:9970 obesity ISO RGD:69439 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:12177191 69400 Synj2bp synaptojanin 2 binding protein gene DOID:630 genetic disease ISO RGD:736800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1344693 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1344693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344693 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:7240710 20130425 OMIM 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 PMID:11889465|PMID:12525535|PMID:25741868 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:1059 intellectual disability ISO RGD:1344693 D RGD:1300358|PMID:11889465 19990101 RGD 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:1059 intellectual disability ISO RGD:1344693 D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:12849 autistic disorder ISO RGD:1344693 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:1596 depressive disorder ISO RGD:1344693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1344693 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:630 genetic disease ISO RGD:1344693 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1344693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1344693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:9005372 Inflammation IEP D RGD:2315920|PMID:14622223 20181220 RGD mRNA:increased expression:spinal cord 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:9006205 Animal Disease Models ISO RGD:1344693 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 69401 Acsl4 acyl-CoA synthetase long-chain family member 4 gene DOID:9006976 Erythema ISO RGD:1344693 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 69402 Acsl5 acyl-CoA synthetase long-chain family member 5 gene DOID:630 genetic disease ISO RGD:1604361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69402 Acsl5 acyl-CoA synthetase long-chain family member 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1604361 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 69402 Acsl5 acyl-CoA synthetase long-chain family member 5 gene DOID:9005374 Diarrhea 13 ISO RGD:1604361 D RGD:7240710 20230505 OMIM 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:1240 leukemia ISO RGD:1349836 D RGD:1599805|PMID:10502316 20070215 RGD DNA:translocation: :t(5;12)(q31;p13) (human) 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:5419 schizophrenia ISO RGD:1349836 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:630 genetic disease ISO RGD:1349836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:670 amphetamine abuse ISO RGD:1349836 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349836 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:9005372 Inflammation IEP D RGD:2315920|PMID:14622223 20100115 RGD mRNA:increased expression:lumbar spinal cord (rat) 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1599808|PMID:16428347 20070215 RGD mRNA:decreased expression:heart 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69403 Acsl6 acyl-CoA synthetase long-chain family member 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349836 D RGD:1599805|PMID:10502316 20160119 RGD DNA:translocation: :t(5;12)(q31;p13) (human) 69404 Ifi27 interferon, alpha-inducible protein 27 gene DOID:0080054 achondrogenesis type IA ISO RGD:1351661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 69404 Ifi27 interferon, alpha-inducible protein 27 gene DOID:0081063 DICER1 syndrome ISO RGD:1351661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 69404 Ifi27 interferon, alpha-inducible protein 27 gene DOID:10608 celiac disease ISO RGD:1351661 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 69404 Ifi27 interferon, alpha-inducible protein 27 gene DOID:630 genetic disease ISO RGD:1351661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69404 Ifi27 interferon, alpha-inducible protein 27 gene DOID:9001488 Human Influenza ISO RGD:1351661 D RGD:11554173 20170711 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 69405 Zfp354c zinc finger protein 354C gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 69405 Zfp354c zinc finger protein 354C gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 69405 Zfp354c zinc finger protein 354C gene DOID:0112103 Sotos syndrome 1 ISO RGD:736972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 69405 Zfp354c zinc finger protein 354C gene DOID:630 genetic disease ISO RGD:736972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:0050834 CHARGE syndrome ISO RGD:69449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:7240710 20150702 OMIM 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3 PMID:12771259|PMID:25741868|PMID:25832664|PMID:28492532 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:10907 microcephaly ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:1826 epilepsy ISO RGD:69449 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69449 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:5419 schizophrenia ISO RGD:69449 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:630 genetic disease ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31785789 69406 Pclo piccolo (presynaptic cytomatrix protein) gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:69449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:28492532 69407 Sik1 salt-inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:7240710 20170329 OMIM 69407 Sik1 salt-inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:15511237|PMID:17576681|PMID:25741868|PMID:25839329|PMID:26467025|PMID:26567857|PMID:27966542|PMID:28492532|PMID:31780880|PMID:8596935|PMID:9536098 69407 Sik1 salt-inducible kinase 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 69407 Sik1 salt-inducible kinase 1 gene DOID:12849 autistic disorder ISO RGD:69451 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69407 Sik1 salt-inducible kinase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:69451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 69407 Sik1 salt-inducible kinase 1 gene DOID:1826 epilepsy ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 69407 Sik1 salt-inducible kinase 1 gene DOID:630 genetic disease ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15511237|PMID:25741868|PMID:26467025|PMID:26567857|PMID:28492532 69407 Sik1 salt-inducible kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69451 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 69407 Sik1 salt-inducible kinase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:69451 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 69407 Sik1 salt-inducible kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 69407 Sik1 salt-inducible kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69451 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69407 Sik1 salt-inducible kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69451 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 69407 Sik1 salt-inducible kinase 1 gene DOID:9263 homocystinuria ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 69407 Sik1 salt-inducible kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:69451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 69408 Lcn2 lipocalin 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 69408 Lcn2 lipocalin 2 gene DOID:0050855 renal fibrosis ISO RGD:69454 D RGD:7245951|PMID:22342673 20130614 RGD mRNA:increased expression:kidney cortex: 69408 Lcn2 lipocalin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 69408 Lcn2 lipocalin 2 gene DOID:0080322 polycystic kidney disease ISO RGD:69454 D RGD:126790531|PMID:22258321 20210426 RGD mRNA:increased expression:kidney, epithelial cell 69408 Lcn2 lipocalin 2 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:69453 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 69408 Lcn2 lipocalin 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:69453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 69408 Lcn2 lipocalin 2 gene DOID:0080600 COVID-19 ISO RGD:69453 D RGD:38501088|PMID:32696007 20200817 RGD protein:increased expression:plasma (human) 69408 Lcn2 lipocalin 2 gene DOID:0080784 urinary tract infection ISO RGD:69453 D RGD:126779579|PMID:24937428 20210409 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:0080784 urinary tract infection ameliorates ISO RGD:69454 D RGD:126779579|PMID:24937428 20210409 RGD 69408 Lcn2 lipocalin 2 gene DOID:0080784 urinary tract infection disease_progression ISO RGD:69454 D RGD:126779559|PMID:25398327 20210408 RGD 69408 Lcn2 lipocalin 2 gene DOID:0080784 urinary tract infection treatment ISO RGD:69453 D RGD:126779579|PMID:24937428 20210409 RGD 69408 Lcn2 lipocalin 2 gene DOID:0081292 traumatic brain injury IEP D RGD:126781751|PMID:31539545 20210419 RGD 69408 Lcn2 lipocalin 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 69408 Lcn2 lipocalin 2 gene DOID:10591 pre-eclampsia ISO RGD:69453 D RGD:126781721|PMID:23957217 20210416 RGD protein:increased expression:serum,urine 69408 Lcn2 lipocalin 2 gene DOID:10608 celiac disease ISO RGD:69453 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 69408 Lcn2 lipocalin 2 gene DOID:10825 essential hypertension ISO RGD:69453 D RGD:7245500|PMID:22923545 20130606 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:11111 hydronephrosis ISO RGD:69453 D RGD:7245985|PMID:21279810 20130618 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 69408 Lcn2 lipocalin 2 gene DOID:12241 beta thalassemia ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 69408 Lcn2 lipocalin 2 gene DOID:13141 uveitis IEP D RGD:126781759|PMID:29590655 20210420 RGD protein:increased expression:retina, M��ller cell 69408 Lcn2 lipocalin 2 gene DOID:13148 acute cystitis disease_progression ISO RGD:69453 D RGD:126779559|PMID:25398327 20210408 RGD associated with urinary tract infection; 69408 Lcn2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ISO RGD:69454 D RGD:126725084|PMID:25234944 20210405 RGD protein:increased expression:serum 69408 Lcn2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ISO RGD:69454 D RGD:126725085|PMID:19342674 20210405 RGD protein:increased expression:lung 69408 Lcn2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia ameliorates ISO RGD:69454 D RGD:126725085|PMID:19342674 20210405 RGD 69408 Lcn2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia exacerbates ISO RGD:69454 D RGD:126725082|PMID:29633303 20210405 RGD 69408 Lcn2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia exacerbates ISO RGD:69454 D RGD:126725084|PMID:25234944 20210405 RGD 69408 Lcn2 lipocalin 2 gene DOID:13272 Klebsiella pneumonia exacerbates ISO RGD:69454 D RGD:126725085|PMID:19342674 20210405 RGD 69408 Lcn2 lipocalin 2 gene DOID:14262 oral candidiasis ISO RGD:69454 D RGD:126725083|PMID:24343647 20210405 RGD mRNA:increased expression:tongues: 69408 Lcn2 lipocalin 2 gene DOID:14262 oral candidiasis no_association ISO RGD:69454 D RGD:126725083|PMID:24343647 20210405 RGD 69408 Lcn2 lipocalin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17114340 69408 Lcn2 lipocalin 2 gene DOID:1591 renovascular hypertension ISO RGD:69453 D RGD:7245500|PMID:22923545 20130606 RGD protein:increased expression:urine,plasma 69408 Lcn2 lipocalin 2 gene DOID:182 calcinosis ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 69408 Lcn2 lipocalin 2 gene DOID:1920 hyperuricemia ISO RGD:69453 D RGD:7244371|PMID:23673972 20130604 RGD 69408 Lcn2 lipocalin 2 gene DOID:219 colon cancer treatment IEP D RGD:2316492|PMID:20043115 20140724 RGD 69408 Lcn2 lipocalin 2 gene DOID:224 transient cerebral ischemia IEP D RGD:126781757|PMID:29122651 20210420 RGD protein:increased expression:brain 69408 Lcn2 lipocalin 2 gene DOID:224 transient cerebral ischemia IEP D RGD:126790489|PMID:24916903 20210423 RGD 69408 Lcn2 lipocalin 2 gene DOID:2280 hidradenitis suppurativa disease_progression ISO RGD:69453 D RGD:126781708|PMID:28256718 20210416 RGD 69408 Lcn2 lipocalin 2 gene DOID:2365 West Nile encephalitis ISO RGD:69454 D RGD:126781836|PMID:24173226 20210421 RGD mRNA,protein:increased expression:brain 69408 Lcn2 lipocalin 2 gene DOID:2773 contact dermatitis ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 69408 Lcn2 lipocalin 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69454 D RGD:126779565|PMID:30534124 20210408 RGD 69408 Lcn2 lipocalin 2 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:69454 D RGD:126779558|PMID:19050270 20210408 RGD 69408 Lcn2 lipocalin 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:69453 D RGD:7245983|PMID:21467131 20130618 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:3021 acute kidney failure IEP D RGD:7244370|PMID:23683031 20130604 RGD protein:increased expression:urine 69408 Lcn2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:22005293|PMID:23052191|PMID:27888128|PMID:28885000 69408 Lcn2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:125973912|PMID:28411423 20210405 RGD associated with open cardiac surgeries;protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:3021 acute kidney failure ISO RGD:69453 D RGD:126781714|PMID:23336369 20210416 RGD protein:increased expression:urine 69408 Lcn2 lipocalin 2 gene DOID:332 amyotrophic lateral sclerosis IEP D RGD:126781758|PMID:23431168 20210420 RGD protein:increased expression:spinal cord 69408 Lcn2 lipocalin 2 gene DOID:3827 congenital diaphragmatic hernia IEP D RGD:126790533|PMID:27592368 20210426 RGD mRNA:decreased expression:lung 69408 Lcn2 lipocalin 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69453 D RGD:126790533|PMID:27592368 20210426 RGD protein:decreased expression:amniotic fluid 69408 Lcn2 lipocalin 2 gene DOID:4079 heart valve disease ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 69408 Lcn2 lipocalin 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:69453 D RGD:126790491|PMID:24939880 20210423 RGD Protein:increased expression:bile duct 69408 Lcn2 lipocalin 2 gene DOID:4928 intrahepatic cholangiocarcinoma treatment IDA D RGD:126790491|PMID:24939880 20210423 RGD 69408 Lcn2 lipocalin 2 gene DOID:552 pneumonia exacerbates ISO RGD:69454 D RGD:126779583|PMID:20633248 20210409 RGD associated with Escherichia Coli Infections 69408 Lcn2 lipocalin 2 gene DOID:557 kidney disease ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:27026710 69408 Lcn2 lipocalin 2 gene DOID:557 kidney disease disease_progression ISO RGD:69453 D RGD:7244373|PMID:23547217 20130604 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; 69408 Lcn2 lipocalin 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:69454 D RGD:126790572|PMID:27800610 20210427 RGD 69408 Lcn2 lipocalin 2 gene DOID:630 genetic disease ISO RGD:69453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69408 Lcn2 lipocalin 2 gene DOID:6432 pulmonary hypertension IEP D RGD:126781744|PMID:25076856 20210419 RGD mRNA,protein:increased expression:lung 69408 Lcn2 lipocalin 2 gene DOID:6432 pulmonary hypertension ISO RGD:69453 D RGD:126781744|PMID:25076856 20210419 RGD associated with congenital heart disease; protein:increased expression:plasma 69408 Lcn2 lipocalin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7554268 69408 Lcn2 lipocalin 2 gene DOID:783 end stage renal disease onset ISO RGD:69453 D RGD:7245503|PMID:22542304 20130607 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:784 chronic kidney disease ISO RGD:69453 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:24714768|PMID:33052911 69408 Lcn2 lipocalin 2 gene DOID:784 chronic kidney disease disease_progression ISO RGD:69454 D RGD:126781837|PMID:20921623 20210421 RGD 69408 Lcn2 lipocalin 2 gene DOID:820 myocarditis IEP D RGD:2316490|PMID:20057160 20100215 RGD mRNA:increased expression:heart (rat) 69408 Lcn2 lipocalin 2 gene DOID:8466 retinal degeneration ameliorates IMP D RGD:126781752|PMID:30574656 20210419 RGD 69408 Lcn2 lipocalin 2 gene DOID:8466 retinal degeneration exacerbates IDA D RGD:126781752|PMID:30574656 20210419 RGD 69408 Lcn2 lipocalin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69453 D RGD:126790531|PMID:22258321 20210426 RGD protein:increased expression:serum, urine 69408 Lcn2 lipocalin 2 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:69453 D RGD:126781837|PMID:20921623 20210421 RGD 69408 Lcn2 lipocalin 2 gene DOID:9000109 Haemophilus Infections ISO RGD:69454 D RGD:126781709|PMID:16153241 20210416 RGD mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium 69408 Lcn2 lipocalin 2 gene DOID:9000325 Abscess IEP D RGD:126781756|PMID:22249220 20210420 RGD mRNA,Protein:increased expression:kidney, liver, serum 69408 Lcn2 lipocalin 2 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:69454 D RGD:126781835|PMID:26463936 20210421 RGD 69408 Lcn2 lipocalin 2 gene DOID:9000722 Animal Hepatitis ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 69408 Lcn2 lipocalin 2 gene DOID:9000855 Experimental Radiation Injuries IEP D RGD:126790570|PMID:23331620 20210427 RGD mRNA,protein:increased expression:liver, heart, kidney,spleen, serum, 69408 Lcn2 lipocalin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24570342 69408 Lcn2 lipocalin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 69408 Lcn2 lipocalin 2 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7245497|PMID:22997966 20130606 RGD protein:increased expression:urine 69408 Lcn2 lipocalin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69453 D RGD:7245960|PMID:22015481 20130617 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:126790480|PMID:23416150 20210422 RGD 69408 Lcn2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections ISO RGD:69454 D RGD:126725084|PMID:25234944 20210405 RGD protein:increased expression:serum 69408 Lcn2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections exacerbates ISO RGD:69454 D RGD:126725084|PMID:25234944 20210405 RGD 69408 Lcn2 lipocalin 2 gene DOID:9002953 Escherichia Coli Infections exacerbates ISO RGD:69454 D RGD:126779557|PMID:16446425 20210408 RGD 69408 Lcn2 lipocalin 2 gene DOID:9004484 Sepsis exacerbates ISO RGD:69454 D RGD:126781712|PMID:22786765 20210416 RGD 69408 Lcn2 lipocalin 2 gene DOID:9005372 Inflammation ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118187 69408 Lcn2 lipocalin 2 gene DOID:9005465 Renal Ischemia ISO RGD:69454 D RGD:126790572|PMID:27800610 20210427 RGD protein:increased expression:urine 69408 Lcn2 lipocalin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316515|PMID:15623795 20100215 RGD mRNA:increased expression:retina (rat) 69408 Lcn2 lipocalin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7245484|PMID:23085980 20130606 RGD protein:increased expression:urine 69408 Lcn2 lipocalin 2 gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:7245471|PMID:23335628 20130605 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:7245484|PMID:23085980 20130606 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:urine 69408 Lcn2 lipocalin 2 gene DOID:9005930 Endotoxemia ISO RGD:69454 D RGD:126779582|PMID:21943033 20210409 RGD mRNA:increased expression:brain,liver 69408 Lcn2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7245469|PMID:23364806 20130605 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69453 D RGD:7245489|PMID:23085062 20130606 RGD protein:increased expression:urine: 69408 Lcn2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69454 D RGD:126779563|PMID:20181666 20210408 RGD mRNA,protein:increased expression:kidney: 69408 Lcn2 lipocalin 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69454 D RGD:126790572|PMID:27800610 20210427 RGD mRNA,protein:increased expression:kidney,urine 69408 Lcn2 lipocalin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69453 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 69408 Lcn2 lipocalin 2 gene DOID:9006844 Streptococcal Infections ISO RGD:69454 D RGD:126781709|PMID:16153241 20210416 RGD mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium 69408 Lcn2 lipocalin 2 gene DOID:9007096 Stroke ISO RGD:69453 D RGD:126790489|PMID:24916903 20210423 RGD protein:increased expression:brain, neuron 69408 Lcn2 lipocalin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69453 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:20623750 69408 Lcn2 lipocalin 2 gene DOID:9008114 Helicobacter Infections ISO RGD:69453 D RGD:126781713|PMID:19727808 20210416 RGD protein:increased expression:gastric mucosa 69408 Lcn2 lipocalin 2 gene DOID:9008527 Chlamydophila Infections exacerbates ISO RGD:69454 D RGD:126781720|PMID:23317919 20210416 RGD 69408 Lcn2 lipocalin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69453 D RGD:126779589|PMID:19949414 20210412 RGD protein:increased expression:serum: 69408 Lcn2 lipocalin 2 gene DOID:9970 obesity IEP D RGD:126790490|PMID:32627017 20210423 RGD mRNA:decreased expression:ovary, testicle 69408 Lcn2 lipocalin 2 gene DOID:9970 obesity IEP D RGD:2316514|PMID:18292240 20100215 RGD mRNA:increased expression:epididymal fat pad, adipose cell (rat) 69408 Lcn2 lipocalin 2 gene DOID:9970 obesity ISO RGD:69453 D RGD:126790530|PMID:21143924 20210426 RGD protein:increased expression:serum 69409 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69409 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:630 genetic disease ISO RGD:1348778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69409 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 69409 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69410 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:10608 celiac disease ISO RGD:1605058 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 69410 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:11372 megacolon ISO RGD:1605058 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 69410 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:409 liver disease ISO RGD:1605058 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15946935 69410 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:630 genetic disease ISO RGD:1605058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69411 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:1059 intellectual disability ISO RGD:69456 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 69411 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:2661 myoepithelioma ISO RGD:69456 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 69411 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:630 genetic disease ISO RGD:69456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69411 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69456 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 69411 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69456 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 69412 Akap6 A-kinase anchoring protein 6 gene DOID:0060224 atrial fibrillation ISO RGD:69458 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 69412 Akap6 A-kinase anchoring protein 6 gene DOID:1059 intellectual disability ISO RGD:69458 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Intellectual disability 69412 Akap6 A-kinase anchoring protein 6 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1550845 D RGD:14349026|PMID:14511675 20190206 RGD mRNA:decreased expression:heart 69412 Akap6 A-kinase anchoring protein 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1550845 D RGD:11251930|PMID:24812305 20190204 RGD 69412 Akap6 A-kinase anchoring protein 6 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:69458 D RGD:14348955|PMID:29979793 20190201 RGD DNA:SNPs: :rs1955513,rs927062(human) 69412 Akap6 A-kinase anchoring protein 6 gene DOID:6000 congestive heart failure ISO RGD:1550845 D RGD:11251930|PMID:24812305 20190204 RGD 69412 Akap6 A-kinase anchoring protein 6 gene DOID:630 genetic disease ISO RGD:69458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69412 Akap6 A-kinase anchoring protein 6 gene DOID:8689 anorexia nervosa susceptibility ISO RGD:69458 D RGD:14349024|PMID:21079607 20190206 RGD DNA:SNP: :rs2383378(human) 69412 Akap6 A-kinase anchoring protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:69458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 69413 Rasgrf2 RAS protein-specific guanine nucleotide-releasing factor 2 gene DOID:305 carcinoma ISO RGD:69460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 69413 Rasgrf2 RAS protein-specific guanine nucleotide-releasing factor 2 gene DOID:630 genetic disease ISO RGD:69460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69413 Rasgrf2 RAS protein-specific guanine nucleotide-releasing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 69413 Rasgrf2 RAS protein-specific guanine nucleotide-releasing factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69460 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69413 Rasgrf2 RAS protein-specific guanine nucleotide-releasing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69460 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 69414 Glrx3 glutaredoxin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:69462 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 69414 Glrx3 glutaredoxin 3 gene DOID:12859 choreatic disease ISO RGD:69462 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 69414 Glrx3 glutaredoxin 3 gene DOID:630 genetic disease ISO RGD:69462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69414 Glrx3 glutaredoxin 3 gene DOID:9003936 Cardiomegaly ISO RGD:69462 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16809552 69415 Cygb cytoglobin gene DOID:0050855 renal fibrosis treatment IMP D RGD:9685174|PMID:20719976 20141222 RGD 69415 Cygb cytoglobin gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 69415 Cygb cytoglobin gene DOID:10584 retinitis pigmentosa ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 69415 Cygb cytoglobin gene DOID:12236 primary biliary cholangitis ISO RGD:1345183 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69415 Cygb cytoglobin gene DOID:13619 extrahepatic cholestasis ISO RGD:1345183 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69415 Cygb cytoglobin gene DOID:5082 liver cirrhosis IEP D RGD:68672|PMID:11320098 20141222 RGD 69415 Cygb cytoglobin gene DOID:5082 liver cirrhosis IMP D RGD:9685176|PMID:16581302 20141222 RGD 69415 Cygb cytoglobin gene DOID:557 kidney disease IEP D RGD:9685173|PMID:14647402 20141222 RGD 69415 Cygb cytoglobin gene DOID:630 genetic disease ISO RGD:1345183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69415 Cygb cytoglobin gene DOID:8501 fundus dystrophy ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 69415 Cygb cytoglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1345183 D RGD:11554173 20200324 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 69415 Cygb cytoglobin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345183 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16581302 69415 Cygb cytoglobin gene DOID:9004250 Hepatic Insufficiency ISO RGD:1345183 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69415 Cygb cytoglobin gene DOID:9005369 Hepatomegaly ISO RGD:1345183 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 69415 Cygb cytoglobin gene DOID:9006190 Chronic Pancreatitis IEP D RGD:9685173|PMID:14647402 20141222 RGD 69416 Lancl1 LanC like glutathione S-transferase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 69416 Lancl1 LanC like glutathione S-transferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:69464 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 69416 Lancl1 LanC like glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:69464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69416 Lancl1 LanC like glutathione S-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69464 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69417 A1bg alpha-1-B glycoprotein gene DOID:5419 schizophrenia ISO RGD:69466 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 69417 A1bg alpha-1-B glycoprotein gene DOID:630 genetic disease ISO RGD:69466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69417 A1bg alpha-1-B glycoprotein gene DOID:9005369 Hepatomegaly ISO RGD:69466 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 69418 Ubd ubiquitin D gene DOID:10608 celiac disease ISO RGD:69468 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 69418 Ubd ubiquitin D gene DOID:11372 megacolon ISO RGD:69468 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 69418 Ubd ubiquitin D gene DOID:12236 primary biliary cholangitis ISO RGD:69468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 69418 Ubd ubiquitin D gene DOID:5844 myocardial infarction IEP D RGD:126925221|PMID:29438664 20210517 RGD mRNA, protein; increased expression; myocardium (rat) 69418 Ubd ubiquitin D gene DOID:5844 myocardial infarction IMP D RGD:126925221|PMID:29438664 20210520 RGD associated with induced myocardial infarction 69418 Ubd ubiquitin D gene DOID:630 genetic disease ISO RGD:69468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69418 Ubd ubiquitin D gene DOID:684 hepatocellular carcinoma ISO RGD:69468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 69418 Ubd ubiquitin D gene DOID:9000722 Animal Hepatitis ISO RGD:69468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 69418 Ubd ubiquitin D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69468 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69418 Ubd ubiquitin D gene DOID:9008939 Breast Neoplasms ISO RGD:69468 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 69419 Ccnh cyclin H gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69419 Ccnh cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 69419 Ccnh cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:24038909|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 69419 Ccnh cyclin H gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 69419 Ccnh cyclin H gene DOID:224 transient cerebral ischemia IEP D RGD:69371|PMID:10501206 20141121 RGD mRNA, protein:increased expression:hippocampus 69419 Ccnh cyclin H gene DOID:2513 basal cell carcinoma ISO RGD:69470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 69419 Ccnh cyclin H gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:69470 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 69419 Ccnh cyclin H gene DOID:305 carcinoma ISO RGD:69470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 69419 Ccnh cyclin H gene DOID:3068 glioblastoma ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:3908 lung non-small cell carcinoma ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:630 genetic disease ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 69419 Ccnh cyclin H gene DOID:9000039 Spinal Cord Injuries IEP D RGD:9590263|PMID:21710280 20141121 RGD mRNA, protein:increased expression:spinal cord 69419 Ccnh cyclin H gene DOID:9000081 Lymphatic Metastasis ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:9000117 Esophageal Neoplasms ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 69419 Ccnh cyclin H gene DOID:9002304 Prostatic Neoplasms ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:9002762 Ovarian Neoplasms ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:9002928 Colonic Neoplasms ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69470 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69419 Ccnh cyclin H gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:9590264|PMID:12606953 20141121 RGD mRNA:increased expression:mammary gland 69419 Ccnh cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69470 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 69419 Ccnh cyclin H gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:24038909|PMID:24139535|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29120072|PMID:29891884|PMID:30120215|PMID:9536098 69419 Ccnh cyclin H gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:69470 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 69419 Ccnh cyclin H gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 69419 Ccnh cyclin H gene DOID:9007188 Liver Neoplasms ISO RGD:69470 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69419 Ccnh cyclin H gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:24038909|PMID:25741868|PMID:28492532 69419 Ccnh cyclin H gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:23164092|PMID:24038909|PMID:25040287|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 69419 Ccnh cyclin H gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY PMID:25741868 69419 Ccnh cyclin H gene DOID:9008939 Breast Neoplasms ISO RGD:69470 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 69420 Slc38a2 solute carrier family 38, member 2 gene DOID:11832 visual epilepsy IEP D RGD:9999229|PMID:21138736 20150414 RGD mRNA:increased expression:hippocampus 69420 Slc38a2 solute carrier family 38, member 2 gene DOID:630 genetic disease ISO RGD:736694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69420 Slc38a2 solute carrier family 38, member 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9999212|PMID:21812961 20150414 RGD mRNA, protein:decreased expression:placenta 69420 Slc38a2 solute carrier family 38, member 2 gene DOID:9004484 Sepsis IEP D RGD:9999218|PMID:20338592 20150414 RGD 69420 Slc38a2 solute carrier family 38, member 2 gene DOID:9005166 Contusions IEP D RGD:9999219|PMID:24045877 20150414 RGD 69420 Slc38a2 solute carrier family 38, member 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9999213|PMID:11798158 20150414 RGD 69421 Ccdc80 coiled-coil domain containing 80 gene DOID:0080600 COVID-19 ISO RGD:736330 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 69421 Ccdc80 coiled-coil domain containing 80 gene DOID:3310 atopic dermatitis ISO RGD:736330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 69421 Ccdc80 coiled-coil domain containing 80 gene DOID:630 genetic disease ISO RGD:736330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69421 Ccdc80 coiled-coil domain containing 80 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736330 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 69422 Cox4i2 cytochrome c oxidase subunit 4i2 gene DOID:630 genetic disease ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69422 Cox4i2 cytochrome c oxidase subunit 4i2 gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:11344905|PMID:19268275 20160708 RGD DNA:mutation:cds:c.412G>A (p.E138K)(human) 69422 Cox4i2 cytochrome c oxidase subunit 4i2 gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:7240710 20130221 OMIM 69422 Cox4i2 cytochrome c oxidase subunit 4i2 gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis PMID:19268275|PMID:25741868|PMID:28492532 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism ISO RGD:69474 D RGD:1581420|PMID:10600799 20090609 RGD mRNA, protein:decreased expression:liver 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:69473 D RGD:2308809|PMID:18692268 20090609 RGD DNA:SNPs 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:69473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome PMID:20188345|PMID:28492532 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0050777 Joubert syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:69473 D RGD:8554872 20160809 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:69473 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603006|PMID:24633463 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:15092090|PMID:30038487 20200106 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:69473 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:557 kidney disease IEP D RGD:1625196|PMID:15944339 20090610 RGD protein:altered localization:kidney 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:630 genetic disease ISO RGD:69473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:21147110 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:783 end stage renal disease ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:7240710 20201111 OMIM 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000808 Hypercholesterolemia IEP D RGD:1581819|PMID:16741953 20090610 RGD protein:altered localization:liver 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:2308806|PMID:18613221 20090608 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69473 D RGD:2308811|PMID:17961514 20090609 RGD 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:1581418|PMID:16046298 20090609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:2308811|PMID:17961514 20090609 RGD associated with Diabetes Mellitus, Experimental 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:2308815|PMID:16936198 20090609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2308805|PMID:19017816 20090608 RGD 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:7240710 20200930 OMIM 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome 2 PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2308804|PMID:19048273 20090608 RGD mRNA, protein:increased expression:renal proximal tubule, epithelial cell 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10900012|PMID:23090186 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance IEP D RGD:2308807|PMID:17241878 20090609 RGD associated with Fatty Liver;mRNA:increased expression:liver 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:69473 D RGD:2308809|PMID:18692268 20090609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2308802|PMID:19357831 20090608 RGD mRNA:increased expression:liver 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69473 D RGD:2308809|PMID:18692268 20090609 RGD DNA:SNPs 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9452 fatty liver disease ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9455 lipid storage disease IEP D RGD:2308821|PMID:17524234 20090609 RGD 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9743 diabetic neuropathy IEP D RGD:2308808|PMID:19423844 20090609 RGD associated with Diabetes Mellitus, Insulin-Dependent 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9970 obesity ISO RGD:69473 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10900012 69423 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9970 obesity ISO RGD:69473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1606000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:17086182|PMID:25741868 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868|PMID:28492532 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1606000 D RGD:7257521|PMID:20591883 20130821 RGD DNA:mutations: : 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:7240710 20130221 OMIM 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:17086182|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:23595123|PMID:24130771|PMID:24247120|PMID:24500309|PMID:24902943|PMID:25060053|PMID:25741868|PMID:26467025|PMID:26668027|PMID:27766458|PMID:28492532|PMID:28780565|PMID:31319225 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 69424 Plce1 phospholipase C, epsilon 1 gene DOID:0111365 benign familial hematuria ISO RGD:1606000 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 69424 Plce1 phospholipase C, epsilon 1 gene DOID:1184 nephrotic syndrome ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 69424 Plce1 phospholipase C, epsilon 1 gene DOID:1184 nephrotic syndrome onset ISO RGD:1606000 D RGD:7257519|PMID:17086182 20130821 RGD DNA:mutations: : 69424 Plce1 phospholipase C, epsilon 1 gene DOID:12206 dengue hemorrhagic fever ISO RGD:1606000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 69424 Plce1 phospholipase C, epsilon 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:18975016|PMID:20507940|PMID:25060053|PMID:25741868|PMID:26467025|PMID:28492532 69424 Plce1 phospholipase C, epsilon 1 gene DOID:2921 glomerulonephritis ISO RGD:1606000 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 69424 Plce1 phospholipase C, epsilon 1 gene DOID:299 adenocarcinoma ISO RGD:1606000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 69424 Plce1 phospholipase C, epsilon 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:735936 D RGD:151708719|PMID:24796667 20220415 RGD human cells in a mouse model 69424 Plce1 phospholipase C, epsilon 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606000 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:20729852|PMID:20729853 69424 Plce1 phospholipase C, epsilon 1 gene DOID:557 kidney disease ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532 69424 Plce1 phospholipase C, epsilon 1 gene DOID:576 proteinuria ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 69424 Plce1 phospholipase C, epsilon 1 gene DOID:630 genetic disease ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 69424 Plce1 phospholipase C, epsilon 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606000 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 69424 Plce1 phospholipase C, epsilon 1 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1606000 D RGD:7257520|PMID:18065803 20130821 RGD DNA:mutations: : 69425 Ube2d2b ubiquitin-conjugating enzyme E2D 2B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347506 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69425 Ube2d2b ubiquitin-conjugating enzyme E2D 2B gene DOID:630 genetic disease ISO RGD:1347506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69426 Oprk1 opioid receptor, kappa 1 gene DOID:0060001 withdrawal disorder ISO RGD:69478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9463367|PMID:20232057 69426 Oprk1 opioid receptor, kappa 1 gene DOID:0060001 withdrawal disorder treatment IMP D RGD:9834942|PMID:22515275 20150310 RGD 69426 Oprk1 opioid receptor, kappa 1 gene DOID:5419 schizophrenia ISO RGD:69478 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69426 Oprk1 opioid receptor, kappa 1 gene DOID:5844 myocardial infarction IMP D RGD:9831425|PMID:15076225 20150306 RGD 69426 Oprk1 opioid receptor, kappa 1 gene DOID:630 genetic disease ISO RGD:69478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9000064 Cardiac Arrhythmias IEP D RGD:9831425|PMID:15076225 20150306 RGD 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69478 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16995444 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9000641 Pain ISO RGD:69478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9463367 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9002211 Hyperalgesia treatment IMP D RGD:9834947|PMID:16924480 20150310 RGD associated with Diabetes Mellitus, Experimental; 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9002916 Hyperphagia IMP D RGD:9831410|PMID:9808678 20150305 RGD 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18575850|PMID:20232055 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9834947|PMID:16924480 20150310 RGD protein:increased expression:sciatic nerve, peroneal nerve: 69426 Oprk1 opioid receptor, kappa 1 gene DOID:9976 heroin dependence IMP D RGD:9831447|PMID:24725195 20150309 RGD 69427 Pdk1 pyruvate dehydrogenase kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:69480 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 69427 Pdk1 pyruvate dehydrogenase kinase 1 gene DOID:630 genetic disease ISO RGD:69480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69428 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:69481 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 69428 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:69481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 69428 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:630 genetic disease ISO RGD:69481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69429 Sycp2 synaptonemal complex protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:69483 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31866047 69429 Sycp2 synaptonemal complex protein 2 gene DOID:0070176 spermatogenic failure 4 ISO RGD:69483 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Early spermatogenesis maturation arrest PMID:25741868|PMID:31866047 69429 Sycp2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:7240710 20200318 OMIM 69429 Sycp2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:31866047 69429 Sycp2 synaptonemal complex protein 2 gene DOID:10283 prostate cancer ISO RGD:69483 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 69429 Sycp2 synaptonemal complex protein 2 gene DOID:630 genetic disease ISO RGD:69483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69429 Sycp2 synaptonemal complex protein 2 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:69483 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:31866047 69430 Stx1a syntaxin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:69485 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 69430 Stx1a syntaxin 1A gene DOID:10487 Hirschsprung's disease ISO RGD:69485 D RGD:1581432|PMID:11345516 19990101 RGD 69430 Stx1a syntaxin 1A gene DOID:10923 sickle cell anemia ISO RGD:69485 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 69430 Stx1a syntaxin 1A gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:69485 D RGD:1581434|PMID:10842016 19990101 RGD 69430 Stx1a syntaxin 1A gene DOID:12849 autistic disorder ISO RGD:69485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18593506 69430 Stx1a syntaxin 1A gene DOID:12849 autistic disorder ISO RGD:69485 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 69430 Stx1a syntaxin 1A gene DOID:150 disease of mental health ISS RGD:69486 D RGD:13592920 20180518 MouseDO 69430 Stx1a syntaxin 1A gene DOID:1826 epilepsy ISO RGD:69485 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 69430 Stx1a syntaxin 1A gene DOID:1928 Williams-Beuren syndrome ISO RGD:69485 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 69430 Stx1a syntaxin 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69485 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 69430 Stx1a syntaxin 1A gene DOID:5419 schizophrenia ISO RGD:69485 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 69430 Stx1a syntaxin 1A gene DOID:630 genetic disease ISO RGD:69485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69430 Stx1a syntaxin 1A gene DOID:8445 intestinal volvulus ISO RGD:69485 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 69430 Stx1a syntaxin 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69485 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 69430 Stx1a syntaxin 1A gene DOID:9008419 Volvulus Of Midgut ISO RGD:69485 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 69431 Ccn4 cellular communication network factor 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:69487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 69431 Ccn4 cellular communication network factor 4 gene DOID:14264 benign neonatal seizures ISO RGD:69487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 69431 Ccn4 cellular communication network factor 4 gene DOID:630 genetic disease ISO RGD:69487 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69431 Ccn4 cellular communication network factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69487 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:30723155 69431 Ccn4 cellular communication network factor 4 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:10003105|PMID:24600972 20150501 RGD 69431 Ccn4 cellular communication network factor 4 gene DOID:9004656 Airway Remodeling treatment IMP D RGD:10003106|PMID:23845395 20150501 RGD associated with Asthma 69431 Ccn4 cellular communication network factor 4 gene DOID:9007480 Hyperoxia treatment IEP D RGD:10003108|PMID:23481549 20150501 RGD 69432 Ugt2a1 UDP glucuronosyltransferase family 2 member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:69489 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 69432 Ugt2a1 UDP glucuronosyltransferase family 2 member A1 gene DOID:630 genetic disease ISO RGD:69489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69432 Ugt2a1 UDP glucuronosyltransferase family 2 member A1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:69489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 69433 Lenep lens epithelial protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 69433 Lenep lens epithelial protein gene DOID:0111940 immunodeficiency 42 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 69433 Lenep lens epithelial protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 69433 Lenep lens epithelial protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 69433 Lenep lens epithelial protein gene DOID:1540 parathyroid carcinoma ISO RGD:69166 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 69433 Lenep lens epithelial protein gene DOID:5812 MHC class II deficiency ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 69433 Lenep lens epithelial protein gene DOID:630 genetic disease ISO RGD:69166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69433 Lenep lens epithelial protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69166 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 69434 Synj1 synaptojanin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 69434 Synj1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:7240710 20140911 OMIM 69434 Synj1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:11413010|PMID:16199547|PMID:17576681|PMID:23804563|PMID:23804577|PMID:24609975|PMID:24816432|PMID:25316601|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27393345|PMID:27435091|PMID:27496670|PMID:27869329|PMID:28135719|PMID:28421333|PMID:28492532|PMID:29163333|PMID:32707456|PMID:9536098 69434 Synj1 synaptojanin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 69434 Synj1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:7240710 20190315 OMIM 69434 Synj1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 PMID:25741868|PMID:26467025|PMID:27435091|PMID:28492532|PMID:32214227 69434 Synj1 synaptojanin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:69491 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 69434 Synj1 synaptojanin 1 gene DOID:14330 Parkinson's disease ISO RGD:69491 D RGD:10450521|PMID:25639775 20160115 RGD 69434 Synj1 synaptojanin 1 gene DOID:630 genetic disease ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11413010|PMID:25741868|PMID:26467025|PMID:27435091|PMID:28421333|PMID:28492532 69434 Synj1 synaptojanin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:69491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 69436 Synj2 synaptojanin 2 gene DOID:630 genetic disease ISO RGD:69494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69436 Synj2 synaptojanin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 69437 Pick1 protein interacting with PRKCA 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 69437 Pick1 protein interacting with PRKCA 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:69496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69437 Pick1 protein interacting with PRKCA 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69437 Pick1 protein interacting with PRKCA 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 69437 Pick1 protein interacting with PRKCA 1 gene DOID:630 genetic disease ISO RGD:69496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69437 Pick1 protein interacting with PRKCA 1 gene DOID:670 amphetamine abuse ISO RGD:69496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 69437 Pick1 protein interacting with PRKCA 1 gene DOID:8646 substance-induced psychosis ISO RGD:69496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 69638 BN/Ka Brown Norway Katholiek (kininogen or kinin deficient) strain DOID:7693 abdominal aortic aneurysm induced IAGP XCO:0000246|XCO:0000025 D RGD:1302825|PMID:15238617 20201001 RGD 69638 BN/Ka Brown Norway Katholiek (kininogen or kinin deficient) strain DOID:9007477 Kininogen Deficiency, High Molecular Weight and Low Molecular Weight IAGP D RGD:68697|PMID:11208766 20200211 RGD 69645 Slc38a1 solute carrier family 38, member 1 gene DOID:11832 visual epilepsy IEP D RGD:9999229|PMID:21138736 20150414 RGD mRNA:increased expression:hippocampus 69645 Slc38a1 solute carrier family 38, member 1 gene DOID:630 genetic disease ISO RGD:735316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69645 Slc38a1 solute carrier family 38, member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735316 D RGD:151361140|PMID:26389641 20220224 RGD 69645 Slc38a1 solute carrier family 38, member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735316 D RGD:151361140|PMID:26389641 20220224 RGD 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:0050746 mantle cell lymphoma ISO RGD:732833 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:0060041 autism spectrum disorder ISS RGD:732834 D RGD:13592920 20190516 MouseDO 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder ISO RGD:732833 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder ISO RGD:732833 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 19 PMID:19556253 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder susceptibility ISO RGD:732833 D RGD:7240710 20190502 OMIM 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:630 genetic disease ISO RGD:732833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:8725 vascular dementia IEP D RGD:10401142|PMID:23053837 20150929 RGD protein:decreased expression:hippocampus 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:9004484 Sepsis IDA D RGD:10401144|PMID:17709445 20150929 RGD 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732833 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 69647 Eif4e eukaryotic translation initiation factor 4E gene DOID:9007102 Myocardial Ischemia IDA D RGD:10401145|PMID:16439989 20150929 RGD 69648 Slc5a6 solute carrier family 5 member 6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 69648 Slc5a6 solute carrier family 5 member 6 gene DOID:630 genetic disease ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69648 Slc5a6 solute carrier family 5 member 6 gene DOID:9001105 NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:7240710 20201216 OMIM 69648 Slc5a6 solute carrier family 5 member 6 gene DOID:9001105 NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, infantile-onset, biotin-responsive PMID:25741868|PMID:27904971|PMID:28492532|PMID:31392107|PMID:31754459|PMID:35013551|PMID:35217562 69648 Slc5a6 solute carrier family 5 member 6 gene DOID:9003994 PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:7240710 20220810 OMIM 69648 Slc5a6 solute carrier family 5 member 6 gene DOID:9003994 PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE ISO RGD:69654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral motor neuropathy, childhood-onset, biotin-responsive PMID:25741868|PMID:27904971|PMID:28492532|PMID:31754459|PMID:35013551 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:7240710 20170215 OMIM 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands PMID:25329695|PMID:25741868|PMID:28492532 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:1059 intellectual disability ISO RGD:734228 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:734228 D RGD:6482791|PMID:17827064 20120503 RGD DNA:snp:intron:g.26636386A>G rs2306677 (human) 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:630 genetic disease ISO RGD:734228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:9003936 Cardiomegaly ISO RGD:734228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20616315 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:734228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 69649 Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:737250 D RGD:6482794|PMID:17285299 20120503 RGD mRNA, protein:increased expression:cerebellum (mouse) 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15235604|PMID:18084123|PMID:19006214|PMID:20358619|PMID:22772368 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28991257|PMID:29168297|PMID:29543232|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0060320 inguinal hernia ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:25326637|PMID:25741868 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:7240710 20140611 OMIM 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:34008892|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:31769227|PMID:32528524|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:16251899|PMID:16928994|PMID:18781618|PMID:18852674|PMID:19006214|PMID:21484991|PMID:22095581|PMID:22113417|PMID:22259224|PMID:23884466|PMID:24792536|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30739908|PMID:32152251 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:7240710 20141015 OMIM 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | ClinVar Annotator: match by term: Colon cancer, hereditary nonpolyposis, type 6 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 6 PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:19533785|PMID:19996017|PMID:20956634|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:22488992|PMID:23103230|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25116393|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:32528524|PMID:32897753|PMID:9536098|PMID:9590282|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0080001 bone disease ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0110214 cleft soft palate ISS RGD:734333 D RGD:13592920 20180518 MouseDO OMIM:119570 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:734332 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:10283 prostate cancer ISS RGD:734333 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:11198 DiGeorge syndrome ISS RGD:734333 D RGD:13592920 20180518 MouseDO OMIM:188400 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11212236|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21251594|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16027248 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:2299005|PMID:18313409 20080808 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21324918|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:30675029|PMID:31769227|PMID:32560555|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15235604 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25786579|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:14323 Marfan syndrome susceptibility ISO RGD:734332 D RGD:1579928|PMID:15235604 20070425 RGD DNA:point mutation, missense mutations: :multiple 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:2317499|PMID:11866987 20100407 RGD protein:increased expresssion:pancreas 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:2317501|PMID:9850059 20100407 RGD DNA:deletion, frameshift mutations (human) 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:5490966|PMID:18772397 20140130 RGD DNA:mutations:exon 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734332 D RGD:2317502|PMID:9365135 20100407 RGD mRNA:increased expresssion:pancreas 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:219 colon cancer ISO RGD:734332 D RGD:2301065|PMID:14988818 20080924 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:2349 arteriosclerosis ISO RGD:734332 D RGD:1580959|PMID:16733295 20070426 RGD protein:increased expression:aorta 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis IDA D RGD:1601601|PMID:11703592 20070425 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:305 carcinoma ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734333 D RGD:2317498|PMID:17114585 20100407 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:734332 D RGD:2317500|PMID:10547197 20100407 RGD mRNA:increased expresssion:pancreas 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3627 aortic aneurysm ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3627 aortic aneurysm ISO RGD:734332 D RGD:2299005|PMID:18313409 20080808 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3627 aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:16791849|PMID:17061023|PMID:18781618|PMID:24033266|PMID:24793577|PMID:25741868|PMID:28492532|PMID:32560555 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3770 pulmonary fibrosis IEP D RGD:1601591|PMID:17077588 20070425 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18781618|PMID:27879313|PMID:28492532 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3883 Lynch syndrome ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9590282 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3883 Lynch syndrome ISO RGD:734332 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:3883 Lynch syndrome ISO RGD:734332 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532|PMID:28659821 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:4762 vasculogenic impotence ISO RGD:734332 D RGD:1601627|PMID:14718046 20070426 RGD protein:increased expression:penis erectile tissue 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:4947 cholangiocarcinoma IEP D RGD:1299231|PMID:12632524 20070425 RGD mRNA:increased expression:bile duct 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:7240710 20180418 OMIM 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:10789724|PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:19533785|PMID:20358619|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:32528524|PMID:32897753|PMID:7664267|PMID:9536098 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:557 kidney disease IEP D RGD:1601593|PMID:16980036 20070425 RGD chronic nephrotoxicity;mRNA, protein:increased expression:kidney 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:5844 myocardial infarction IEP D RGD:1601617|PMID:10198196 20070426 RGD protein:increased expression:myocardium 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:630 genetic disease ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15731757|PMID:16928994|PMID:18852674|PMID:20628007|PMID:22772377|PMID:23884466|PMID:25741868|PMID:27139629|PMID:27879313|PMID:28182693|PMID:28344185|PMID:28492532|PMID:28991257 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:6364 migraine ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:6432 pulmonary hypertension IEP D RGD:1601116|PMID:17392319 20070425 RGD mRNA:decreased expression:lung 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:65 connective tissue disease ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:15235604|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17344846|PMID:18781618|PMID:19996017|PMID:24033266|PMID:24793577|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26133393|PMID:27100340|PMID:27879313|PMID:28225382|PMID:28492532|PMID:29543232|PMID:8246946|PMID:9395234 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:684 hepatocellular carcinoma IEP D RGD:1601598|PMID:14585397 20070425 RGD mRNA, protein:decreased expression:liver 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:687 hepatoblastoma ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9000027 Microsatellite Instability ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7761852|PMID:25701956 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9000111 Radiation Injuries IDA D RGD:1601599|PMID:12957270 20070425 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16489006 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:737735|PMID:12808151 20131105 RGD associated with Mammary Neoplasms, Experimental 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis IDA D RGD:1579923|PMID:16627068 20070425 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15942678|PMID:16627068 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:151665755|PMID:30346985 20220331 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496156 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9002221 Hyperplasia IEP D RGD:1299231|PMID:12632524 20100407 RGD mRNA:increased expression:bile duct, duct epithelial cell 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18381416 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:1601623|PMID:9010265 20070426 RGD protein:increased expression:synovium 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9002589 Bone Fractures ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7761852 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:1579926|PMID:15613744 20070425 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9004039 Marfan Syndrome Type 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome type 2 | ClinVar Annotator: match by term: Marfan like connective tissue disorder PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:35535697|PMID:8246946|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9004389 Bone Neoplasms ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16489006 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11074608 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734332 D RGD:737735|PMID:12808151 20131105 RGD 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16027248|PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9006193 Loeys-Dietz Syndrome, Type 1b ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:35535697|PMID:8246946|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9006617 Fatigue ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:734332 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AAT1 PMID:11212236|PMID:16791849|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21270064|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:8246946 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734332 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16368934|PMID:16885183 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734332 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9256 colorectal cancer ISO RGD:734332 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532|PMID:9590282 69651 Tgfbr2 transforming growth factor, beta receptor 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:1601600|PMID:11947899 20070425 RGD protein:increased expression:aorta 69653 Snrk SNF related kinase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 69653 Snrk SNF related kinase gene DOID:630 genetic disease ISO RGD:735399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:0050152 aspiration pneumonia IEP D RGD:4891456|PMID:19515386 20110707 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:0080011 bone resorption disease ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21507677 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:0080599 Coronavirus infectious disease IEP D RGD:5135236|PMID:17804032 20110714 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:735621 D RGD:30296676|PMID:32416070 20200616 RGD protein:increased expression:serum: 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis severity IEP D RGD:2307010|PMID:18642776 20110712 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:10247 pleurisy IEP D RGD:5135064|PMID:21549112 20110712 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:10247 pleurisy ISO RGD:733118 D RGD:5135449|PMID:14527170 20110720 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:10457 Legionnaires' disease ISO RGD:733118 D RGD:5135252|PMID:11254553 20110715 RGD mRNA, protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:10533 viral pneumonia IEP D RGD:5134975|PMID:19671179 20110707 RGD protein:increased expression:respiratory system fluid/secretion 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:13580 cholestasis ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:733118 D RGD:5135034|PMID:20818377 20110711 RGD protein:increased expression:respiratory system fluid/secretion 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:735621 D RGD:5135034|PMID:20818377 20110711 RGD protein:increased expression:sputum 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:1852 intrahepatic cholestasis IEP D RGD:5135233|PMID:18364083 20110714 RGD mRNA:increased expression:liver 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:2123 tularemia ISO RGD:733118 D RGD:5135025|PMID:21277990 20110708 RGD protein:increased expression:respiratory system fluid/secretion 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:733118 D RGD:5129686|PMID:20045013 20110712 RGD mRNA:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:733118 D RGD:5135037|PMID:20454613 20110711 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:3042 allergic contact dermatitis ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23178550 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735621 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:37 skin disease ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:4724 brain edema IEP D RGD:5135068|PMID:18830379 20110712 RGD associated with Cerebral Hemorrhage;protein:increased expression:cerebral cortex 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:552 pneumonia IEP D RGD:5134959|PMID:20728373 20110706 RGD mRNA, protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:733118 D RGD:5135235|PMID:18367723 20110714 RGD mRNA:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:630 genetic disease ISO RGD:735621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:7148 rheumatoid arthritis ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:824 periodontitis IEP D RGD:5135002|PMID:20096665 20110708 RGD protein:increased expression:gingival epithelium 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:8398 osteoarthritis ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:4891456|PMID:19515386 20110707 RGD Lung Injury 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:5134960|PMID:20724665 20110706 RGD associated with Sepsis;protein:increased expression:plasma, respiratory system fluid/secretion 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:5134961|PMID:20709317 20110706 RGD associated with Pancreatitis;protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:5135023|PMID:21618001 20110708 RGD Ventilator-Induced Lung Injury;protein:increased expression:respiratory system fluid/secretion 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease IEP D RGD:5135036|PMID:20472255 20110711 RGD associated with Reperfusion Injury;protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:4891479|PMID:19558673 20110707 RGD associated with Reperfusion Injury 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:5135024|PMID:21301926 20110708 RGD Acute Lung Injury;mRNA:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:5135056|PMID:19794970 20110712 RGD Acute Lung Injury;protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:733118 D RGD:5135060|PMID:21743025 20110712 RGD associated with Pneumonia, Viral;protein:increased expression:respiratory system fluid/secretion, neutrophil 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia IEP D RGD:5135234|PMID:11052817 20110714 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:733118 D RGD:5135062|PMID:21723409 20110712 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia severity ISO RGD:733118 D RGD:5135065|PMID:19239431 20110712 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21509778 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9000722 Animal Hepatitis IEP D RGD:2307010|PMID:18642776 20110712 RGD mRNA:increased expression:liver 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries IEP D RGD:2306999|PMID:19210118 20110712 RGD protein:increased expression:brain, neuron 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:735621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:5135271|PMID:10498645 20110718 RGD mRNA:increased expression:liver 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:733118 D RGD:4891425|PMID:20967263 20110711 RGD mRNA:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:733118 D RGD:5135026|PMID:21251691 20110708 RGD mRNA:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9001600 Wounds and Injuries ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5134974|PMID:19691980 20110707 RGD mRNA:increased expression:jejunum, lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5135251|PMID:11580116 20110715 RGD protein:increased expression:liver 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5135270|PMID:10655268 20110718 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:733118 D RGD:5134970|PMID:20160675 20110707 RGD mRNA:increased expression:liver 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004484 Sepsis ISO RGD:733118 D RGD:5135255|PMID:9284162 20110715 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury IEP D RGD:5147925|PMID:19106808 20120322 RGD protein:increased expression:respiratory system fluid/secretion 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:733118 D RGD:5135247|PMID:15557650 20110715 RGD mRNA, protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:733118 D RGD:5135253|PMID:10069420 20110715 RGD associated with Sepsis;mRNA:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:735621 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27525872 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9005930 Endotoxemia ISO RGD:733118 D RGD:5135254|PMID:9766630 20110715 RGD mRNA:increased expression:multiple organs 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9007021 Bordetella Infections ISO RGD:733118 D RGD:5134984|PMID:20065113 20110707 RGD associated with Influenza 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9007480 Hyperoxia ISO RGD:733118 D RGD:4145114|PMID:20220550 20110712 RGD mRNA, protein:increased expression:lung 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9007730 Burns IEP D RGD:5135231|PMID:18391855 20110714 RGD protein:increased expression:serum 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:5135269|PMID:11342480 20110718 RGD 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9008217 Hemorrhage IEP D RGD:5135230|PMID:18434445 20110714 RGD associated with Wounds, Penetrating 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 70069 Cxcl2 C-X-C motif chemokine ligand 2 gene DOID:9446 cholangitis treatment IEP D RGD:14995925|PMID:17102917 20191031 RGD 70074 Trim3 tripartite motif-containing 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731725 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 70074 Trim3 tripartite motif-containing 3 gene DOID:630 genetic disease ISO RGD:731725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70153 Bp59 Blood pressure QTL 59 qtl DOID:10763 hypertension IDA D RGD:69692|PMID:11082136 19990101 RGD 70154 Insul2 Insulin level QTL 2 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69703|PMID:9819774 19990101 RGD 70155 Gcs1 Gastric cancer susceptibility QTL1 qtl DOID:9000217 Stomach Neoplasms IDA D RGD:69698|PMID:10706129 19990101 RGD 70157 Niddm32 Non-insulin dependent diabetes mellitus QTL 32 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70158 Bp60 Blood pressure QTL 60 qtl DOID:10763 hypertension IDA D RGD:69692|PMID:11082136 19990101 RGD 70159 Bp61 Blood pressure QTL 61 qtl DOID:10763 hypertension IDA D RGD:69711|PMID:11247666 19990101 RGD 70160 Bw18 Body weight QTL 18 qtl DOID:9003287 Body Weight Changes IDA D RGD:69701|PMID:9530625 19990101 RGD 70161 Bp62 Blood pressure QTL 62 qtl DOID:10763 hypertension IDA D RGD:61516|PMID:11015598 19990101 RGD 70162 Bp63 Blood pressure QTL 63 qtl DOID:10763 hypertension IDA D RGD:61043|PMID:8952608 19990101 RGD 70163 Bw20 Body weight QTL 20 qtl DOID:9003287 Body Weight Changes IDA D RGD:69701|PMID:9530625 19990101 RGD 70164 Bw21 Body weight QTL 21 qtl DOID:9003287 Body Weight Changes IDA D RGD:69691|PMID:9824537 19990101 RGD 70165 Bp64 Blood pressure QTL 64 qtl DOID:10763 hypertension IDA D RGD:69713|PMID:9931114 19990101 RGD 70166 Bp65 Blood pressure QTL 65 qtl DOID:10763 hypertension IDA D RGD:69713|PMID:9931114 19990101 RGD 70167 Bw22 Body weight QTL 22 qtl DOID:9003287 Body Weight Changes IDA D RGD:69707|PMID:9530522 19990101 RGD 70168 Eae12 Experimental allergic encephalomyelitis QTL 12 qtl DOID:2377 multiple sclerosis IDA D RGD:69695|PMID:10545597 19990101 RGD 70168 Eae12 Experimental allergic encephalomyelitis QTL 12 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69695|PMID:10545597 19990101 RGD 70169 Eae13 Experimental allergic encephalomyelitis QTL 13 qtl DOID:2377 multiple sclerosis IDA D RGD:69695|PMID:10545597 19990101 RGD 70169 Eae13 Experimental allergic encephalomyelitis QTL 13 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69695|PMID:10545597 19990101 RGD 70170 Eae14 Experimental allergic encephalomyelitis QTL 14 qtl DOID:2377 multiple sclerosis IDA D RGD:69695|PMID:10545597 19990101 RGD 70170 Eae14 Experimental allergic encephalomyelitis QTL 14 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69695|PMID:10545597 19990101 RGD 70171 Cari1 Carrageenan-induced inflammation QTL 1 qtl DOID:9004713 Acute-Phase Reaction IDA D RGD:69693|PMID:10087293 19990101 RGD 70171 Cari1 Carrageenan-induced inflammation QTL 1 qtl DOID:9005372 Inflammation IDA D RGD:69693|PMID:10087293 20130430 RGD 70172 Eae15 Experimental allergic encephalomyelitis QTL 15 qtl DOID:2377 multiple sclerosis IDA D RGD:69695|PMID:10545597 19990101 RGD 70172 Eae15 Experimental allergic encephalomyelitis QTL 15 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69695|PMID:10545597 19990101 RGD 70173 Niddm19 Non-insulin dependent diabetes mellitus QTL 19 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69691|PMID:9824537 19990101 RGD 70174 BpQTLCluster2 Blood pressure QTL cluster 2 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70175 BpQTLCluster3 Blood pressure QTL cluster 3 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70176 Mcsm1 Mammary carcinoma susceptibility modifier QTL 1 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:62417|PMID:11139513 19990101 RGD 70177 Xhs1 X-ray hypersensitivity QTL 1 qtl DOID:9000855 Experimental Radiation Injuries IDA D RGD:69702|PMID:11003700 20130627 RGD 70178 Eaez Experimental allergic encephalomyelitis QTL z qtl DOID:2377 multiple sclerosis IDA D RGD:61031|PMID:10640775 19990101 RGD 70178 Eaez Experimental allergic encephalomyelitis QTL z qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:61031|PMID:10640775 19990101 RGD 70179 Xhs2 X-ray hypersensitivity QTL 2 qtl DOID:9000855 Experimental Radiation Injuries IDA D RGD:69702|PMID:11003700 20130627 RGD 70180 BpQTLcluster10 Blood pressure QTL cluster 10 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70181 BpQTLcluster11 Blood pressure QTL cluster 11 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70182 BpQTLcluster12 Blood pressure QTL cluster 12 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70183 BpQTLcluster13 Blood pressure QTL cluster 13 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70184 BpQTLcluster14 Blood pressure QTL cluster 14 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70185 BpQTLcluster15 Blood pressure QTL cluster 15 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70186 Niddm26 Non-insulin dependent diabetes mellitus QTL 26 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70187 Pancm5 Pancreatic morphology QTL 5 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69697|PMID:9745032 19990101 RGD 70188 BpQTLcluster1 Blood pressure QTL cluster 1 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70189 Mcs5 Mammary carcinoma susceptibility QTL 5 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:62417|PMID:11139513 19990101 RGD 70190 Mcs6 Mammary carcinoma susceptibility QTL 6 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:62417|PMID:11139513 19990101 RGD 70191 BpQTLcluster4 Blood pressure QTL cluster 4 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70192 BpQTLcluster5 Blood pressure QTL cluster 5 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70193 Mcs7 Mammary carcinoma susceptibility QTL 7 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:62417|PMID:11139513 19990101 RGD 70194 BpQTLcluster6 Blood pressure QTL cluster 6 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70195 Mcs8 Mammary carcinoma susceptibility QTL 8 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:62417|PMID:11139513 19990101 RGD 70196 BpQTLcluster7 Blood pressure QTL cluster 7 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70197 BpQTLcluster8 Blood pressure QTL cluster 8 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70198 BpQTLcluster9 Blood pressure QTL cluster 9 qtl DOID:10763 hypertension IDA D RGD:68932|PMID:10779487 19990101 RGD 70200 Alc18 Alcohol consumption QTL 18 qtl DOID:1574 alcohol use disorder IDA D RGD:69704|PMID:9880658 19990101 RGD 70201 Gcr1 Gastric cancer resistance QTL 1 qtl DOID:9000217 Stomach Neoplasms IDA D RGD:69698|PMID:10706129 19990101 RGD 70202 Alc19 Alcohol consumption QTL 19 qtl DOID:1574 alcohol use disorder IDA D RGD:69704|PMID:9880658 19990101 RGD 70203 Gcr2 Gastric cancer resistance QTL 2 qtl DOID:9000217 Stomach Neoplasms IDA D RGD:69698|PMID:10706129 19990101 RGD 70204 Niddm20 Non-insulin dependent diabetes mellitus QTL 20 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:69691|PMID:9824537 19990101 RGD 70205 Gcr3 Gastric cancer resistance QTL 3 qtl DOID:9000217 Stomach Neoplasms IDA D RGD:69698|PMID:10706129 19990101 RGD 70206 Alc20 Alcohol consumption QTL 20 qtl DOID:1574 alcohol use disorder IDA D RGD:69704|PMID:9880658 19990101 RGD 70207 Niddm31 Non-insulin dependent diabetes mellitus QTL 31 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70208 Niddm22 Non-insulin dependent diabetes mellitus QTL 22 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70209 Niddm23 Non-insulin dependent diabetes mellitus QTL 23 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70210 Cm15 Cardiac mass QTL 15 qtl DOID:6432 pulmonary hypertension IDA D RGD:69699|PMID:11157698 19990101 RGD 70210 Cm15 Cardiac mass QTL 15 qtl DOID:9002221 Hyperplasia IDA D RGD:10401832|PMID:26258299 20151014 RGD 70210 Cm15 Cardiac mass QTL 15 qtl DOID:9006102 Right Ventricular Hypertrophy IDA D RGD:10401832|PMID:26258299 20151014 RGD 70210 Cm15 Cardiac mass QTL 15 qtl DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IDA D RGD:10401832|PMID:26258299 20151014 RGD 70211 Niddm24 Non-insulin dependent diabetes mellitus QTL 24 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:69696|PMID:10594234 19990101 RGD 70212 Niddm25 Non-insulin dependent diabetes mellitus QTL 25 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70213 Niddm27 Non-insulin dependent diabetes mellitus QTL 27 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70214 Niddm28 Non-insulin dependent diabetes mellitus QTL 28 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70215 Niddm29 Non-insulin dependent diabetes mellitus QTL 29 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:69696|PMID:10594234 19990101 RGD 70216 Cm14 Cardiac mass QTL 14 qtl DOID:10763 hypertension IAGP D RGD:68910|PMID:10642295 19990101 RGD 70218 Cm28 Cardiac mass QTL 28 qtl DOID:10763 hypertension IAGP D RGD:61516|PMID:11015598 19990101 RGD 70220 Bp55 Blood pressure QTL 55 qtl DOID:10763 hypertension IDA D RGD:61043|PMID:8952608 19990101 RGD 70221 Bp56 Blood pressure QTL 56 qtl DOID:10763 hypertension IDA D RGD:69713|PMID:9931114 19990101 RGD 70222 Eae2 Experimental allergic encephalomyelitis QTL 2 qtl DOID:2377 multiple sclerosis IDA D RGD:69694|PMID:9973459 19990101 RGD 70222 Eae2 Experimental allergic encephalomyelitis QTL 2 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69694|PMID:9973459 19990101 RGD 70223 Bp57 Blood pressure QTL 57 qtl DOID:10763 hypertension IDA D RGD:69692|PMID:11082136 19990101 RGD 70224 Eae3 Experimental allergic encephalomyelitis QTL 3 qtl DOID:2377 multiple sclerosis IDA D RGD:69694|PMID:9973459 20100217 RGD 70224 Eae3 Experimental allergic encephalomyelitis QTL 3 qtl DOID:9002079 Paresis IDA D RGD:69694|PMID:9973459 20100217 RGD 70224 Eae3 Experimental allergic encephalomyelitis QTL 3 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69694|PMID:9973459 20100217 RGD 70225 Bp58 Blood pressure QTL 58 qtl DOID:10763 hypertension IDA D RGD:69692|PMID:11082136 19990101 RGD 70226 Eae4 Experimental allergic encephalomyelitis QTL 4 qtl DOID:2377 multiple sclerosis IDA D RGD:69712|PMID:10072499 19990101 RGD 70226 Eae4 Experimental allergic encephalomyelitis QTL 4 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:69712|PMID:10072499 19990101 RGD 70332 Hif3a hypoxia inducible factor 3 subunit alpha gene DOID:630 genetic disease ISO RGD:1605351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70332 Hif3a hypoxia inducible factor 3 subunit alpha gene DOID:6432 pulmonary hypertension IEP D RGD:10395375|PMID:16215633 20150903 RGD 70363 Bp71 Blood pressure QTL 71 qtl DOID:9006024 Hypotension IDA D RGD:69734|PMID:11471055 19990101 RGD 70364 Bp72 Blood pressure QTL 72 qtl DOID:9006024 Hypotension IDA D RGD:69734|PMID:11471055 19990101 RGD 70367 Vmp1 vacuole membrane protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:731420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 70367 Vmp1 vacuole membrane protein 1 gene DOID:630 genetic disease ISO RGD:731420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70367 Vmp1 vacuole membrane protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731420 D RGD:8554872 20160322 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 70368 Acot8 acyl-CoA thioesterase 8 gene DOID:2234 focal epilepsy ISO RGD:70372 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 70368 Acot8 acyl-CoA thioesterase 8 gene DOID:630 genetic disease ISO RGD:70372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70368 Acot8 acyl-CoA thioesterase 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:70372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 70429 AO strain DOID:0080158 herpes simplex virus keratitis susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to PVG rat strain; HSV-1 McKrae virus strain 70429 AO strain DOID:10124 corneal disease susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD associated with herpes simplex virus; compared to PVG rat strain 70429 AO strain DOID:13141 uveitis susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD associated with herpes simplex virus; compared to PVG rat strain 70429 AO strain DOID:9003870 Herpes Simplex Encephalitis susceptibility IAGP D RGD:40903004|PMID:8045717 20201222 RGD compared to PVG rat strain; HSV-1 McKrae virus strain 70454 WKY/N strain DOID:10763 hypertension MODEL: control IAGP D RGD:28912746|PMID:11907153 20200902 RGD compared to SHRSP/A3N 70454 WKY/N strain DOID:10763 hypertension MODEL: control IAGP D RGD:30296650|PMID:11682445 20200831 RGD compared to SHRSP/A3N 70454 WKY/N strain DOID:10763 hypertension MODEL: control IAGP D RGD:36049805|PMID:3611778 20200902 RGD compared to SHRSP/A3N 70454 WKY/N strain DOID:10763 hypertension MODEL: control IAGP D RGD:731210|PMID:14678232 20200326 RGD compared to SHR/N strain 70459 ZDF Vancouver diabetic fatty Zucker strain DOID:10603 glucose intolerance IAGP D RGD:68929|PMID:11334402 19990101 RGD 70459 ZDF Vancouver diabetic fatty Zucker strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:68929|PMID:11334402 20200205 RGD compared to lean littermates without recessive mutation in leptin receptor gene 70486 Cdk2 cyclin dependent kinase 2 gene DOID:10283 prostate cancer ISO RGD:1352010 D RGD:2293560|PMID:16648554 20080604 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1352010 D RGD:2293557|PMID:18236071 20080604 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:1909 melanoma ISO RGD:1352010 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 70486 Cdk2 cyclin dependent kinase 2 gene DOID:2920 membranoproliferative glomerulonephritis IMP D RGD:2293563|PMID:17893107 20080604 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1352010 D RGD:2293561|PMID:16740772 20080604 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352010 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 70486 Cdk2 cyclin dependent kinase 2 gene DOID:630 genetic disease ISO RGD:1352010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2289284|PMID:16534847 20080604 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352010 D RGD:2298989|PMID:9426687 20080808 RGD DNA, mRNA:amplification, increased expression:ovary 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352010 D RGD:2298988|PMID:11585414 20080808 RGD protein:increased expression:ovary 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352010 D RGD:2296067|PMID:18299147 20080808 RGD mRNA:decreased expression:uterine cervix 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:1352010 D RGD:2298990|PMID:9673386 20080808 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:1352010 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70501 D RGD:2293558|PMID:16924466 20080604 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:70501 D RGD:10448975|PMID:8104336 20151210 RGD 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1352010 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9007479 Habitual Abortions ISO RGD:1352010 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1352010 D RGD:2289230|PMID:17483252 20080604 RGD protein:increased expression:endometrium 70486 Cdk2 cyclin dependent kinase 2 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:2293567|PMID:16723461 20080604 RGD mRNA:increased expression:retina 70487 Ctnnb1 catenin beta 1 gene DOID:0001816 angiosarcoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:13678655 70487 Ctnnb1 catenin beta 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 70487 Ctnnb1 catenin beta 1 gene DOID:0050535 exudative vitreoretinopathy ISS RGD:1550466 D RGD:13592920 20230511 MouseDO 70487 Ctnnb1 catenin beta 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 70487 Ctnnb1 catenin beta 1 gene DOID:0050770 polycystic liver disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 70487 Ctnnb1 catenin beta 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 70487 Ctnnb1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:7240710 20190315 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23033978|PMID:23265383|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1550466 D RGD:13592920 20190516 MouseDO 70487 Ctnnb1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:7240710 20140911 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS PMID:10966653|PMID:18414213|PMID:23033978|PMID:24033266|PMID:24614104|PMID:24668549|PMID:25326635|PMID:25326637|PMID:25326669|PMID:25741868|PMID:2614104|PMID:26350204|PMID:26502894|PMID:27848944|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28333917|PMID:28492532|PMID:28514307|PMID:28575650|PMID:28856709|PMID:32369273|PMID:33004838|PMID:33350591|PMID:33475177|PMID:35099645 70487 Ctnnb1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:7240710 20190315 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 PMID:23033978|PMID:24614104|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:733705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28191889|PMID:28492532|PMID:28575650|PMID:33004838 70487 Ctnnb1 catenin beta 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 70487 Ctnnb1 catenin beta 1 gene DOID:0111349 hereditary desmoid disease ISO RGD:733705 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10398436|PMID:10435629|PMID:10655994|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:733705 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 70487 Ctnnb1 catenin beta 1 gene DOID:10283 prostate cancer ISO RGD:733705 D RGD:11531513|PMID:27067790 20180124 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:10283 prostate cancer ISO RGD:733705 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25157968|PMID:26619011|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:10283 prostate cancer ISS RGD:1550466 D RGD:13592920 20180518 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 70487 Ctnnb1 catenin beta 1 gene DOID:10488 imperforate anus ISO RGD:733705 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 70487 Ctnnb1 catenin beta 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:733705 D RGD:151893464|PMID:29069277 20220420 RGD mRNA:altered expression:stomach, tumor (human) 70487 Ctnnb1 catenin beta 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:25741868 70487 Ctnnb1 catenin beta 1 gene DOID:1059 intellectual disability ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:1550466 D RGD:1302533|PMID:11226152 20150827 RGD protein:decreased expression:nucleus: 70487 Ctnnb1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733705 D RGD:10395258|PMID:15781969 20150827 RGD protein:increased expression:neuron,cytoplasm: 70487 Ctnnb1 catenin beta 1 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:10395276|PMID:12610652 20150827 RGD protein:decreased expression:hippocampus 70487 Ctnnb1 catenin beta 1 gene DOID:11054 urinary bladder cancer ISS RGD:1550466 D RGD:13592920 20180518 MouseDO OMIM:109800 70487 Ctnnb1 catenin beta 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733705 D RGD:2289829|PMID:17175927 20080213 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:1107 esophageal carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210 70487 Ctnnb1 catenin beta 1 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1550466 D RGD:1598718|PMID:14993121 20150827 RGD protein:increased phosphorylation:myocyte: 70487 Ctnnb1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550466 D RGD:13524857|PMID:20376467 20180430 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:1324 lung cancer ISO RGD:733705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10027390|PMID:10192393|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 70487 Ctnnb1 catenin beta 1 gene DOID:1324 lung cancer treatment ISO RGD:733705 D RGD:150530284|PMID:32051824 20211207 RGD human cells in mouse model 70487 Ctnnb1 catenin beta 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733705 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 70487 Ctnnb1 catenin beta 1 gene DOID:1520 colon carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10192393|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9294210 70487 Ctnnb1 catenin beta 1 gene DOID:1790 malignant mesothelioma ISO RGD:733705 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 70487 Ctnnb1 catenin beta 1 gene DOID:1793 pancreatic cancer ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 70487 Ctnnb1 catenin beta 1 gene DOID:182 calcinosis ISO RGD:733705 D RGD:9068449|PMID:18422975 20140819 RGD protein:increased expression:dermis: 70487 Ctnnb1 catenin beta 1 gene DOID:1909 melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:1911 endodermal sinus tumor ISO RGD:733705 D RGD:2298800|PMID:16822086 20080725 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550466 D RGD:242905195|PMID:35854140 20230328 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:2043 hepatitis B ISO RGD:733705 D RGD:150429591|PMID:25536643 20210907 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) 70487 Ctnnb1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:21237236|PMID:28825729 70487 Ctnnb1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:2289833|PMID:12890743 20080213 RGD protein:increased expression:kidney 70487 Ctnnb1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:2289834|PMID:12239584 20080213 RGD DNA:mutations: :multiple 70487 Ctnnb1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403 70487 Ctnnb1 catenin beta 1 gene DOID:234 colon adenocarcinoma IAGP D RGD:1599637|PMID:16886601 20070209 RGD DNA:mutation 70487 Ctnnb1 catenin beta 1 gene DOID:2394 ovarian cancer ISO RGD:733705 D RGD:7240710 20190213 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10027390|PMID:10192393|PMID:10391090|PMID:10435629|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733705 D RGD:2289818|PMID:17363521 20080212 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733705 D RGD:2298486|PMID:16426728 20080701 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:289 endometriosis ISO RGD:733705 D RGD:150429593|PMID:29462326 20210907 RGD protein:increased expression:endometrium, epithelium, stroma (human) 70487 Ctnnb1 catenin beta 1 gene DOID:299 adenocarcinoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:14507667|PMID:15459021 70487 Ctnnb1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:1643593|PMID:16488995 20080213 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISS RGD:1550466 D RGD:13592920 20180518 MouseDO 70487 Ctnnb1 catenin beta 1 gene DOID:3121 gallbladder cancer ISO RGD:733705 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 70487 Ctnnb1 catenin beta 1 gene DOID:3307 teratoma ISO RGD:733705 D RGD:2298800|PMID:16822086 20080725 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:733705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GLB1 deficiency PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28191889|PMID:28492532|PMID:28575650|PMID:33004838 70487 Ctnnb1 catenin beta 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:733705 D RGD:2289814|PMID:17721269 20080212 RGD protein:decreased expression:breast 70487 Ctnnb1 catenin beta 1 gene DOID:363 uterine cancer ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:25157968|PMID:25741868|PMID:26619011 70487 Ctnnb1 catenin beta 1 gene DOID:3840 craniopharyngioma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413733 70487 Ctnnb1 catenin beta 1 gene DOID:3840 craniopharyngioma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:3905 lung carcinoma disease_progression IAGP D RGD:2289843|PMID:17639448 20080213 RGD DNA, protein:mutations, increased expression:cytoplasm, nucleus:multiple 70487 Ctnnb1 catenin beta 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733705 D RGD:13434929|PMID:27498289 20171009 RGD protein:increased expression:lung 70487 Ctnnb1 catenin beta 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 70487 Ctnnb1 catenin beta 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733705 D RGD:13792605|PMID:28677753 20180917 RGD mRNA:increased expression:thyroid 70487 Ctnnb1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma disease_progression ISO RGD:733705 D RGD:13792558|PMID:29498921 20180914 RGD mRNA:increased expression:thyroid 70487 Ctnnb1 catenin beta 1 gene DOID:4 disease ISO RGD:733705 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Disease PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 70487 Ctnnb1 catenin beta 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26822237 70487 Ctnnb1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:2289794|PMID:15330191 20080213 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:2289835|PMID:11831984 20080213 RGD protein:increased expression:kidney 70487 Ctnnb1 catenin beta 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:733705 D RGD:14402052|PMID:19101982 20190528 RGD protein:increased tyrosine phosphorylation:exon: 70487 Ctnnb1 catenin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21047994 70487 Ctnnb1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:7240710 20130221 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733705 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34019859 70487 Ctnnb1 catenin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:630 genetic disease ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21903672|PMID:23033978|PMID:24614104|PMID:24728327|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28492532|PMID:28575650|PMID:28856709|PMID:30640974|PMID:33004838|PMID:33350591 70487 Ctnnb1 catenin beta 1 gene DOID:657 adenoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10965019 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764|PMID:25822088|PMID:27738331|PMID:28284560 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:14402052|PMID:19101982 20190528 RGD protein:increased expression:liver: 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:7240710 20130221 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:734850|PMID:10435629 20070209 RGD DNA:mutation:exon 3 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733705 D RGD:150429592|PMID:27276713 20210907 RGD DNA:missense mutations:exon 3:multiple (human) 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:733705 D RGD:14402052|PMID:19101982 20190528 RGD DNA:Mutations:exon: 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:14402039|PMID:26968103 20190524 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human) 70487 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:14402040|PMID:28328801 20190524 RGD associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human) 70487 Ctnnb1 catenin beta 1 gene DOID:687 hepatoblastoma ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21237236 70487 Ctnnb1 catenin beta 1 gene DOID:687 hepatoblastoma ISO RGD:733705 D RGD:14402054|PMID:10398436 20190528 RGD protein:increased expression:cytoplasm,nucleus: 70487 Ctnnb1 catenin beta 1 gene DOID:687 hepatoblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:767 muscular atrophy ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18467435 70487 Ctnnb1 catenin beta 1 gene DOID:8719 in situ carcinoma ISO RGD:733705 D RGD:2289836|PMID:9496256 20080213 RGD protein:decreased expression:breast 70487 Ctnnb1 catenin beta 1 gene DOID:8923 skin melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733705 D RGD:2289813|PMID:17908479 20080212 RGD associated with Breast Neoplasms;protein:decreased expression 70487 Ctnnb1 catenin beta 1 gene DOID:9000156 Metaplasia exacerbates ISO RGD:733705 D RGD:150429594|PMID:19369517 20210907 RGD associated with Helicobacter Infections;protein:increased expression:body stomach, stomach pyloric antrum, nucleus (human) 70487 Ctnnb1 catenin beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733705 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:10027390|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 70487 Ctnnb1 catenin beta 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 70487 Ctnnb1 catenin beta 1 gene DOID:9000784 Fibrosis ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:9000918 Disease Progression ISO RGD:733705 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:27738331|PMID:29106415|PMID:34019859 70487 Ctnnb1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 70487 Ctnnb1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:2289488|PMID:18008331 20080212 RGD associated with Prostatic Neoplasms 70487 Ctnnb1 catenin beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:20118494|PMID:21147764 70487 Ctnnb1 catenin beta 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 70487 Ctnnb1 catenin beta 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733705 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 70487 Ctnnb1 catenin beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:733705 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 70487 Ctnnb1 catenin beta 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 70487 Ctnnb1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550466 D RGD:2289815|PMID:17638904 20080212 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733705 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 70487 Ctnnb1 catenin beta 1 gene DOID:9002331 Knee Osteoarthritis IEP D RGD:10395278|PMID:22702043 20150827 RGD protein:increased expression:cartilage: 70487 Ctnnb1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22000491 70487 Ctnnb1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065403 70487 Ctnnb1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733705 D RGD:2298487|PMID:15381903 20080701 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:9002801 Recurrence ISO RGD:733705 D RGD:11554173 20211207 CTD CTD Direct Evidence: marker/mechanism PMID:34019859 70487 Ctnnb1 catenin beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9515794|PMID:12628520|PMID:12800193|PMID:14507667|PMID:15459021|PMID:17404573|PMID:18283038|PMID:21081470|PMID:22323126 70487 Ctnnb1 catenin beta 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 70487 Ctnnb1 catenin beta 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 70487 Ctnnb1 catenin beta 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733705 D RGD:2298488|PMID:15863126 20080701 RGD protein:altered localization:cytoplasm 70487 Ctnnb1 catenin beta 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:9003694 Cecal Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 70487 Ctnnb1 catenin beta 1 gene DOID:9004240 Phyllodes Tumor ISO RGD:733705 D RGD:2289832|PMID:12898599 20080213 RGD protein:increased expression:nucleus 70487 Ctnnb1 catenin beta 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733705 D RGD:2289817|PMID:17418409 20080212 RGD DNA:mutations 70487 Ctnnb1 catenin beta 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1550466 D RGD:2289830|PMID:17072826 20080213 RGD protein:decreased phosphorylation, increased expression:uterus, nucleus 70487 Ctnnb1 catenin beta 1 gene DOID:9004307 Alazami Syndrome ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:733705 D RGD:8554872 20180821 ClinVar ClinVar Annotator: match by term: Parathyroid gland neoplasm PMID:25157968|PMID:26619011|PMID:26822237 70487 Ctnnb1 catenin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733705 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 70487 Ctnnb1 catenin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1550466 D RGD:10395257|PMID:11517342 20150827 RGD protein:increased expression:cytosol: 70487 Ctnnb1 catenin beta 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733705 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 70487 Ctnnb1 catenin beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733705 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:23707762|PMID:26990689 70487 Ctnnb1 catenin beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:12351151|PMID:14507667 70487 Ctnnb1 catenin beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18372914 70487 Ctnnb1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:2289674|PMID:18060046 20080212 RGD DNA:missense mutations: :p.S33Y, p.S45F 70487 Ctnnb1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:2289816|PMID:17510243 20080212 RGD protein:increased expression:mammary gland 70487 Ctnnb1 catenin beta 1 gene DOID:9005446 Mandibular Neoplasms IEP D RGD:1599632|PMID:17259108 20070209 RGD mRNA:increased expression:small intestine 70487 Ctnnb1 catenin beta 1 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16824628 70487 Ctnnb1 catenin beta 1 gene DOID:9006205 Animal Disease Models ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:9006332 Vascular Calcification ISO RGD:733705 D RGD:11554173 20170725 CTD CTD Direct Evidence: therapeutic PMID:23223575 70487 Ctnnb1 catenin beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:733705 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 70487 Ctnnb1 catenin beta 1 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:13524855|PMID:25586361 20180430 RGD mRNA,protein:increased expression:heart 70487 Ctnnb1 catenin beta 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26822237 70487 Ctnnb1 catenin beta 1 gene DOID:9007096 Stroke ISO RGD:733705 D RGD:2289837|PMID:18241848 20080213 RGD protein:increased phosphorylation, decreased expression:brain 70487 Ctnnb1 catenin beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:733705 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 70487 Ctnnb1 catenin beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733705 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:10467420|PMID:21047994 70487 Ctnnb1 catenin beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19679878 70487 Ctnnb1 catenin beta 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733705 D RGD:8554872 20171219 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:25157968|PMID:26619011|PMID:26822237 70487 Ctnnb1 catenin beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733705 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 70487 Ctnnb1 catenin beta 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 70487 Ctnnb1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733705 D RGD:2289828|PMID:17349568 20080213 RGD protein:increased expression:nucleus 70487 Ctnnb1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733705 D RGD:4143515|PMID:19078924 20100930 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10192393|PMID:25157968|PMID:25741868|PMID:26619011|PMID:9065402|PMID:9294210 70487 Ctnnb1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733705 D RGD:2298485|PMID:16803534 20080701 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27848944|PMID:27915094|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:12907644|PMID:21291235|PMID:25280562 70487 Ctnnb1 catenin beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733705 D RGD:2293188|PMID:18432252 20080520 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 70487 Ctnnb1 catenin beta 1 gene DOID:9008582 Developmental Disease ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11262227 70487 Ctnnb1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12165863|PMID:25330770 70487 Ctnnb1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:2289792|PMID:17223851 20080213 RGD protein:decreased expression:breast 70487 Ctnnb1 catenin beta 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733705 D RGD:2289831|PMID:16707478 20080213 RGD 70487 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:7240710 20200226 OMIM 70487 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650 70487 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer disease_progression IEP D RGD:2289840|PMID:17893236 20080213 RGD protein:increased expression:cytoplasm, nucleus 70487 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer treatment ISO RGD:733705 D RGD:153297782|PMID:32682784 20220726 RGD Human cells in mouse model 70488 Tfrc transferrin receptor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:70503 D RGD:11062089|PMID:18552213 20160425 RGD mRNA,protein:decreased expression: erythrocyte: 70488 Tfrc transferrin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:733275 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 70488 Tfrc transferrin receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 70488 Tfrc transferrin receptor gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:733275 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 70488 Tfrc transferrin receptor gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:11541090|PMID:23805238 20161007 RGD protein:increased expression:liver 70488 Tfrc transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:7240710 20160210 OMIM 70488 Tfrc transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TFRC-related combined immunodeficiency PMID:17576681|PMID:25741868|PMID:26642240|PMID:28492532|PMID:9536098 70488 Tfrc transferrin receptor gene DOID:0111962 combined immunodeficiency ISO RGD:733275 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:26642240 70488 Tfrc transferrin receptor gene DOID:10283 prostate cancer ISO RGD:733275 D RGD:2292017|PMID:15514585 20080409 RGD protein:increased expression:serum 70488 Tfrc transferrin receptor gene DOID:10608 celiac disease ISO RGD:70503 D RGD:11062102|PMID:15054143 20160426 RGD mRNA,protein:increased expression:duodenum: 70488 Tfrc transferrin receptor gene DOID:11054 urinary bladder cancer ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 70488 Tfrc transferrin receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 70488 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:70503 D RGD:11062104|PMID:26303393 20160426 RGD 70488 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:11062096|PMID:15104997 20160426 RGD protein:increased expression:serum: 70488 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:11062105|PMID:17877204 20160426 RGD mRNA:increased expression:placenta: 70488 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17162259|PMID:17163184 70488 Tfrc transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:70503 D RGD:11062138|PMID:16755567 20160427 RGD mRNA:increased expression:liver: 70488 Tfrc transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 70488 Tfrc transferrin receptor gene DOID:12849 autistic disorder ISO RGD:733275 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70488 Tfrc transferrin receptor gene DOID:1612 breast cancer ISO RGD:733275 D RGD:2292018|PMID:14965443 20080409 RGD protein:increased expression:breast 70488 Tfrc transferrin receptor gene DOID:1612 breast cancer severity ISO RGD:733275 D RGD:2292021|PMID:11299801 20080409 RGD mRNA:increased expression:breast 70488 Tfrc transferrin receptor gene DOID:1724 duodenal ulcer IEP D RGD:11541091|PMID:19342511 20161007 RGD protein:increased expression:duodenal mucosa 70488 Tfrc transferrin receptor gene DOID:2351 iron metabolism disease ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17163184|PMID:17254562 70488 Tfrc transferrin receptor gene DOID:2394 ovarian cancer ISO RGD:733275 D RGD:2298574|PMID:3493065 20080711 RGD 70488 Tfrc transferrin receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733275 D RGD:2292023|PMID:9373912 20080409 RGD 70488 Tfrc transferrin receptor gene DOID:3070 high grade glioma ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 70488 Tfrc transferrin receptor gene DOID:3459 breast carcinoma ISO RGD:733275 D RGD:2292020|PMID:11497259 20080409 RGD 70488 Tfrc transferrin receptor gene DOID:3702 cervical adenocarcinoma ISO RGD:733275 D RGD:2292022|PMID:9739406 20080409 RGD protein:increased expression:uterine cervix 70488 Tfrc transferrin receptor gene DOID:374 nutrition disease IEP D RGD:2292028|PMID:18373698 20080409 RGD protein:decreased expression:T cell 70488 Tfrc transferrin receptor gene DOID:3944 Arenaviridae infectious disease ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17287727 70488 Tfrc transferrin receptor gene DOID:4258 Weissenbacher-Zweymuller syndrome ISS RGD:70503 D RGD:13592920 20221006 MouseDO OMIM:261800 70488 Tfrc transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:2292024|PMID:12394762 20080409 RGD protein:increased expression:kidney, T cell 70488 Tfrc transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:2292025|PMID:8050820 20080409 RGD mRNA:decreased expression:kidney, T cell 70488 Tfrc transferrin receptor gene DOID:5419 schizophrenia ISO RGD:733275 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70488 Tfrc transferrin receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733275 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 70488 Tfrc transferrin receptor gene DOID:627 severe combined immunodeficiency ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26642240 70488 Tfrc transferrin receptor gene DOID:630 genetic disease ISO RGD:733275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70488 Tfrc transferrin receptor gene DOID:684 hepatocellular carcinoma IEP D RGD:2292036|PMID:16953838 20080409 RGD mRNA:increased expression:liver 70488 Tfrc transferrin receptor gene DOID:767 muscular atrophy IEP D RGD:2292027|PMID:18395385 20080409 RGD mRNA:decreased expression:gastrocnemius 70488 Tfrc transferrin receptor gene DOID:8955 sideroblastic anemia ISO RGD:70503 D RGD:11062136|PMID:21326867 20160427 RGD mRNA,protein:increased expression:erythroblast: 70488 Tfrc transferrin receptor gene DOID:9000242 Lymphoma, AIDS-Related treatment ISO RGD:733275 D RGD:11062098|PMID:26325374 20160426 RGD 70488 Tfrc transferrin receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 70488 Tfrc transferrin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 70488 Tfrc transferrin receptor gene DOID:9004240 Phyllodes Tumor ISO RGD:733275 D RGD:2292026|PMID:2174150 20080409 RGD protein:increased expression:myoepithelial cell 70488 Tfrc transferrin receptor gene DOID:9004713 Acute-Phase Reaction IEP D RGD:1601529|PMID:17417667 20080409 RGD 70488 Tfrc transferrin receptor gene DOID:9005172 Lung Neoplasms ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 70488 Tfrc transferrin receptor gene DOID:9005372 Inflammation ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16603144 70488 Tfrc transferrin receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 70488 Tfrc transferrin receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 70488 Tfrc transferrin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 70488 Tfrc transferrin receptor gene DOID:9007970 Chronic Cerebral Hypoperfusion IEP D RGD:11541085|PMID:22639386 20161007 RGD protein:increased expression:hippocampus 70488 Tfrc transferrin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17163184 70488 Tfrc transferrin receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16111806 70488 Tfrc transferrin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16904380|PMID:19238537 70488 Tfrc transferrin receptor gene DOID:9538 multiple myeloma treatment ISO RGD:733275 D RGD:11062101|PMID:21654517 20160426 RGD 70488 Tfrc transferrin receptor gene DOID:9970 obesity ISO RGD:733275 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17062801|PMID:20882379 70490 Nat1 N-acetyltransferase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1344668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 70490 Nat1 N-acetyltransferase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1344668 D RGD:2303760|PMID:12355549 20090225 RGD DNA:polymorphism 70490 Nat1 N-acetyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16003747 70490 Nat1 N-acetyltransferase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11505221 70490 Nat1 N-acetyltransferase 1 gene DOID:1793 pancreatic cancer ISO RGD:1344668 D RGD:2317170|PMID:18006927 20100317 RGD DNA:polymorphism (human) 70490 Nat1 N-acetyltransferase 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1344668 D RGD:2317168|PMID:18499698 20100317 RGD DNA:polymorphism (human) 70490 Nat1 N-acetyltransferase 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1344668 D RGD:2317170|PMID:18006927 20140428 RGD DNA:polymorphisms,haplotype: : 70490 Nat1 N-acetyltransferase 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:1344668 D RGD:5131865|PMID:11266080 20110512 RGD associated with lung neoplasm; DNA:polymorphis: : 70490 Nat1 N-acetyltransferase 1 gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1344668 D RGD:8552666|PMID:19663877 20140424 RGD DNA:polymorphism: : 70490 Nat1 N-acetyltransferase 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1344668 D RGD:4140950|PMID:18258609 20110504 RGD DNA:polymorphism: : 70490 Nat1 N-acetyltransferase 1 gene DOID:4404 occupational dermatitis ISO RGD:1344668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19834256 70490 Nat1 N-acetyltransferase 1 gene DOID:4404 occupational dermatitis susceptibility ISO RGD:1344668 D RGD:8552685|PMID:19834256 20140425 RGD DNA:polymorphisms:: 70490 Nat1 N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1344668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70490 Nat1 N-acetyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12618593 70490 Nat1 N-acetyltransferase 1 gene DOID:9003613 Laryngeal Neoplasms susceptibility ISO RGD:1344668 D RGD:5131864|PMID:12037388 20110512 RGD DNA:polymorphism: : 70490 Nat1 N-acetyltransferase 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 70490 Nat1 N-acetyltransferase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1344668 D RGD:5131866|PMID:9626964 20110512 RGD DNA:polymorphism: : 70490 Nat1 N-acetyltransferase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11505221 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0050439 Usher syndrome ISO RGD:730953 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:730953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0060468 Holt-Oram syndrome ISO RGD:730953 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:24465802|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:7240710 20140911 OMIM 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24033266|PMID:24193348|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25049390|PMID:25640679|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28544325|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:34008892|PMID:3476488|PMID:7737999|PMID:9536098|PMID:9599222 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0080006 bone development disease ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:730953 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:10487 Hirschsprung's disease ISO RGD:730953 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26017485|PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730953 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22772371|PMID:24465802|PMID:25741868|PMID:26017485|PMID:28139901|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29543232 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772368|PMID:22772371 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:1520 colon carcinoma ISO RGD:730954 D RGD:13432084|PMID:10416598 20170919 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:1520 colon carcinoma disease_progression ISO RGD:730953 D RGD:13432074|PMID:11166150 20170918 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:730953 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:1682 congenital heart disease ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:1686 glaucoma ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:1790 malignant mesothelioma ISO RGD:730953 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:2256 osteochondrodysplasia IEP D RGD:2302024|PMID:17366323 20081118 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:289 endometriosis ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:730953 D RGD:155630628|PMID:8253361 20221026 RGD protein:decreased expression:pancreas (human) 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:3627 aortic aneurysm ISO RGD:730953 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22772371|PMID:25741868|PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:417 autoimmune disease ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:5082 liver cirrhosis ISO RGD:730953 D RGD:14985228|PMID:30686515 20191014 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:5199 ureteral obstruction ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:520 aortic disease ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:22772368|PMID:23102774|PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29907982|PMID:31191903 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:5637 pancreatic adenosquamous carcinoma ameliorates ISO RGD:730953 D RGD:155630611|PMID:21366804 20221025 RGD human cells in a mouse model 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:57 aortic valve insufficiency ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:5844 myocardial infarction IEP D RGD:2302107|PMID:14575314 20081119 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:630 genetic disease ISO RGD:730953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:3476488 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:65 connective tissue disease ISO RGD:730953 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:674 cleft palate ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730953 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2302103|PMID:15145083 20081119 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9000781 Cyanosis ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9001600 Wounds and Injuries IEP D RGD:2292158|PMID:18205704 20081118 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9001600 Wounds and Injuries IMP D RGD:2302090|PMID:17117936 20081118 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9002498 Wallerian Degeneration IEP D RGD:2302105|PMID:14997937 20081119 RGD protein:decreased expression:sciatic nerve 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2302088|PMID:17204936 20081118 RGD mRNA, protein:decreased expression:central nervous system 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:730953 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26017485|PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9005100 Aberrant Crypt Foci treatment IEP D RGD:13432080|PMID:17293967 20170918 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302087|PMID:17574405 20081118 RGD protein:increased expression:parotid gland 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9008296 Eye Abnormalities ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730953 D RGD:13432077|PMID:22532293 20170918 RGD associated with Inflammatory Bowel Diseases;DNA:hypermethylation 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730953 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:730953 D RGD:13432086|PMID:15057430 20170919 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9256 colorectal cancer treatment ISO RGD:730953 D RGD:13432081|PMID:19661324 20170918 RGD 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9446 cholangitis ISO RGD:730953 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 70491 Tgfb2 transforming growth factor, beta 2 gene DOID:9743 diabetic neuropathy IEP D RGD:2302086|PMID:18406405 20081118 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion 70492 Nat2 N-acetyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732527 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 70492 Nat2 N-acetyltransferase 2 gene DOID:0060500 drug allergy ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159|PMID:20602614|PMID:21572414 70492 Nat2 N-acetyltransferase 2 gene DOID:0080074 neural tube defect ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20641098 70492 Nat2 N-acetyltransferase 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:732527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 70492 Nat2 N-acetyltransferase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:732527 D RGD:2303760|PMID:12355549 20090225 RGD DNA:polymorphism 70492 Nat2 N-acetyltransferase 2 gene DOID:11054 urinary bladder cancer ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10022756|PMID:15717312|PMID:18505952|PMID:20972438|PMID:24221535 70492 Nat2 N-acetyltransferase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732527 D RGD:8552670|PMID:16327307 20140424 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:1240 leukemia no_association ISO RGD:732527 D RGD:10755329|PMID:10383893 20160907 RGD DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:1240 leukemia susceptibility ISO RGD:732527 D RGD:11532768|PMID:20884738 20160907 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:1324 lung cancer no_association ISO RGD:732527 D RGD:5131861|PMID:15808403 20110512 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:1324 lung cancer susceptibility ISO RGD:732527 D RGD:5131605|PMID:19558213 20110504 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:732527 D RGD:8552650|PMID:15663505 20140423 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:732527 D RGD:2303766|PMID:9343502 20090225 RGD DNA:polymorphism 70492 Nat2 N-acetyltransferase 2 gene DOID:1790 malignant mesothelioma ISO RGD:732527 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 70492 Nat2 N-acetyltransferase 2 gene DOID:1790 malignant mesothelioma susceptibility ISO RGD:732527 D RGD:5131858|PMID:15993904 20110511 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732527 D RGD:2317169|PMID:18027363 20100317 RGD DNA:polymorphism (human) 70492 Nat2 N-acetyltransferase 2 gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:732527 D RGD:2303765|PMID:12402313 20090225 RGD DNA:polymorphism 70492 Nat2 N-acetyltransferase 2 gene DOID:2841 asthma ISO RGD:732527 D RGD:5131600|PMID:20602614 20110504 RGD Asthma, Aspirin-Induced; DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:2841 asthma susceptibility ISO RGD:732527 D RGD:5131606|PMID:16924569 20110504 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:2876 laryngeal squamous cell carcinoma susceptibility ISO RGD:732527 D RGD:5131602|PMID:19922706 20110504 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:2876 laryngeal squamous cell carcinoma susceptibility ISO RGD:732527 D RGD:5131856|PMID:16155914 20110511 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732527 D RGD:4140932|PMID:20297661 20110504 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:732527 D RGD:8552663|PMID:16533241 20140424 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732527 D RGD:4892219|PMID:17442289 20110504 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732527 D RGD:5131863|PMID:12884528 20110512 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:3310 atopic dermatitis no_association ISO RGD:732527 D RGD:8552668|PMID:14528063 20140424 RGD DNA:polymorphisms: :481C>T,590G>A,857G>A(human) 70492 Nat2 N-acetyltransferase 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:732527 D RGD:8552664|PMID:16224574 20140424 RGD DNA:polymorphisms: :481C>T, 590G>A(human) 70492 Nat2 N-acetyltransferase 2 gene DOID:3393 coronary artery disease ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 70492 Nat2 N-acetyltransferase 2 gene DOID:418 systemic scleroderma susceptibility ISO RGD:732527 D RGD:5147680|PMID:10599336 20140425 RGD DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:4404 occupational dermatitis ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19834256 70492 Nat2 N-acetyltransferase 2 gene DOID:4404 occupational dermatitis susceptibility ISO RGD:732527 D RGD:8552685|PMID:19834256 20140425 RGD DNA:polymorphisms:: 70492 Nat2 N-acetyltransferase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:732527 D RGD:2317172|PMID:15901993 20100317 RGD DNA:polymorphisms (human) 70492 Nat2 N-acetyltransferase 2 gene DOID:5614 eye disease ISO RGD:732528 D RGD:8552648|PMID:17487534 20140423 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:615 leukopenia ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12795783 70492 Nat2 N-acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:732527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70492 Nat2 N-acetyltransferase 2 gene DOID:678 progressive supranuclear palsy ISO RGD:732527 D RGD:8552652|PMID:22424094 20140423 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732527 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 70492 Nat2 N-acetyltransferase 2 gene DOID:783 end stage renal disease IEP D RGD:11533637|PMID:20007296 20160908 RGD mRNA,protein:decreased expression:liver: 70492 Nat2 N-acetyltransferase 2 gene DOID:850 lung disease ISO RGD:732527 D RGD:1581053|PMID:8961976 19990101 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:8893 psoriasis susceptibility ISO RGD:732527 D RGD:8552687|PMID:19334527 20140425 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:732527 D RGD:11056814|PMID:20972438 20160907 RGD DNA:SNP: :rs1495741(human) 70492 Nat2 N-acetyltransferase 2 gene DOID:9000307 Presbycusis susceptibility ISO RGD:732527 D RGD:8552649|PMID:16369173 20140423 RGD DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9001142 Drug-Induced Agranulocytosis ISO RGD:732527 D RGD:11532771|PMID:10739170 20160907 RGD associated with Inflammation; 70492 Nat2 N-acetyltransferase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732527 D RGD:2311598|PMID:10591543 20090724 RGD associated with Diabetes Mellitus, Insulin-Dependent 70492 Nat2 N-acetyltransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12618593|PMID:12622714|PMID:15717312|PMID:16083506 70492 Nat2 N-acetyltransferase 2 gene DOID:9006779 Discoid Lupus Erythematosus treatment ISO RGD:732527 D RGD:8552671|PMID:9170150 20140424 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17377643|PMID:17502830 70492 Nat2 N-acetyltransferase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions susceptibility ISO RGD:732527 D RGD:8552667|PMID:12786839 20140424 RGD DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:732527 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19666988 70492 Nat2 N-acetyltransferase 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:732527 D RGD:8552678|PMID:17290401 20140425 RGD DNA:polymorphisms,haplotype:exon: 70492 Nat2 N-acetyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11915035|PMID:16799928|PMID:17950035|PMID:25693865 70492 Nat2 N-acetyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:732527 D RGD:8552665|PMID:18023090 20140424 RGD associated with Tuberculosis;DNA:haplotype: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732527 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19692670 70492 Nat2 N-acetyltransferase 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:732527 D RGD:5147680|PMID:10599336 20140425 RGD DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:732527 D RGD:11532773|PMID:11352872 20160907 RGD DNA:polymorphism: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732527 D RGD:11532769|PMID:21888617 20160907 RGD DNA:polymorphisms,haplotype: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9351 diabetes mellitus ISO RGD:732527 D RGD:2311597|PMID:16397907 20090724 RGD DNA:polymorphism 70492 Nat2 N-acetyltransferase 2 gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:732527 D RGD:8552678|PMID:17290401 20140425 RGD DNA:polymorphisms,haplotype:exon: 70492 Nat2 N-acetyltransferase 2 gene DOID:9669 senile cataract ISO RGD:732527 D RGD:8552653|PMID:16251120 20140423 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732527 D RGD:11554173 20200326 CTD CTD Direct Evidence: marker/mechanism PMID:22200898 70492 Nat2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732527 D RGD:11353805|PMID:22215203 20160907 RGD 70492 Nat2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732527 D RGD:11532767|PMID:25804798 20160907 RGD DNA:polymorphisms: : 70492 Nat2 N-acetyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732527 D RGD:11532769|PMID:21888617 20160907 RGD DNA:polymorphisms,haplotype: : 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:1352372 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733626 D RGD:5509622|PMID:20967760 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1352372 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:17959182|PMID:21558275|PMID:30643255 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:1352372 D RGD:5509620|PMID:15111312 20111101 RGD protein:increased expression:brain 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:733626 D RGD:5509595|PMID:20570249 20111031 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:10763 hypertension ISO RGD:1352372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22467300 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:1352372 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16303615 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:733626 D RGD:5509610|PMID:18206890 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:2316 brain ischemia IEP D RGD:5509598|PMID:20167207 20111031 RGD mRNA, protein:increased expression:brain 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:5509605|PMID:19628725 20111101 RGD protein:increased expression:lung 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:5509784|PMID:18692885 20111103 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:2921 glomerulonephritis IEP D RGD:5128564|PMID:7967345 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:733626 D RGD:5509627|PMID:19546247 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:630 genetic disease ISO RGD:1352372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:8283 peritonitis ISO RGD:733626 D RGD:5509607|PMID:18941242 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1352372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11406566 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30643255 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:5509597|PMID:20554417 20111031 RGD mRNA:increased expression:nasal cavity epithelium 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9001600 Wounds and Injuries ISO RGD:733626 D RGD:5509615|PMID:15708862 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:733626 D RGD:5509599|PMID:19675173 20111031 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733626 D RGD:5509618|PMID:15328042 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:733626 D RGD:5509608|PMID:18635843 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9004610 Acute Lung Injury ISO RGD:733626 D RGD:5509626|PMID:19752233 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:5509613|PMID:17384141 20111101 RGD associated with Wounds and Injuries 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:5509625|PMID:19787041 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9007692 Insulin Resistance ISO RGD:733626 D RGD:5509625|PMID:19787041 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9743 diabetic neuropathy ISO RGD:733626 D RGD:5509623|PMID:20724598 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733626 D RGD:5509611|PMID:17940120 20111101 RGD 70493 Alox15 arachidonate 15-lipoxygenase gene DOID:9775 diastolic heart failure ISO RGD:1352372 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 70494 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:11038666|PMID:17392301 20160218 RGD DNA:deletion, missense mutations, splice-site mutations:multiple 70494 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:17392301|PMID:17460043|PMID:23535734|PMID:23583980|PMID:30203795 70494 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31265491|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:9536098 70494 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:27854218|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 70494 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial idiopathic pulmonary fibrosis | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 70494 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17785587|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20301779|PMID:20502709|PMID:21436073|PMID:21520174|PMID:21543794|PMID:22364217|PMID:22853774|PMID:22863003|PMID:23335200|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25271372|PMID:25365545|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26365799|PMID:27540018|PMID:27622320|PMID:27836952|PMID:28102861|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30603600|PMID:31268371 70494 Tert telomerase reverse transcriptase gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:1353510 D RGD:150530628|PMID:24761905 20211216 RGD DNA:SNP: :rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:150530487|PMID:28025427 20211213 RGD DNA:SNPs: :rs2736100,rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353510 D RGD:11038659|PMID:24844605 20160218 RGD mRNA:splice variants:cds 70494 Tert telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532|PMID:29463756|PMID:33718801 70494 Tert telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1353510 D RGD:11038661|PMID:19270495 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1353510 D RGD:2291992|PMID:15010825 20080408 RGD mRNA:decreased expression:breast 70494 Tert telomerase reverse transcriptase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis PMID:16890917|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:0070004 myeloid neoplasm ISO RGD:1353510 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 70494 Tert telomerase reverse transcriptase gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:12167716|PMID:15885610|PMID:16247010|PMID:18042801|PMID:18635888|PMID:18931339|PMID:20301779|PMID:21602826|PMID:23901009|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26360549|PMID:27418648|PMID:28154186|PMID:28492532|PMID:30523342 70494 Tert telomerase reverse transcriptase gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532|PMID:30603600 70494 Tert telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:7240710 20180919 OMIM 70494 Tert telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12167716|PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25244922|PMID:25271372|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26360549|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27192671|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27622320|PMID:27824607|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28767289|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29146883|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30203795|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31268371|PMID:31395865|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:34890115|PMID:9536098 70494 Tert telomerase reverse transcriptase gene DOID:0070021 autosomal recessive dyskeratosis congenita 4 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 PMID:15814878|PMID:17785587|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:20301779|PMID:20502709|PMID:21258621|PMID:21602826|PMID:23901009|PMID:23905534|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26887940|PMID:27418648|PMID:28192371|PMID:28492532|PMID:30523342|PMID:30603600|PMID:34890115 70494 Tert telomerase reverse transcriptase gene DOID:10283 prostate cancer ISO RGD:1353510 D RGD:2291990|PMID:17108213 20080408 RGD mRNA:increased expression:plasma 70494 Tert telomerase reverse transcriptase gene DOID:10325 silicosis IEP D RGD:152977761|PMID:29230030 20220606 RGD mRNA:increased expression:lung (rat) 70494 Tert telomerase reverse transcriptase gene DOID:1037 lymphoid leukemia ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 70494 Tert telomerase reverse transcriptase gene DOID:10485 esophageal atresia ISO RGD:1353510 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 70494 Tert telomerase reverse transcriptase gene DOID:10534 stomach cancer ISO RGD:1353510 D RGD:152977754|PMID:16696344 20220602 RGD mRNA:increased expression:mucosa of stomach 70494 Tert telomerase reverse transcriptase gene DOID:10907 microcephaly ISO RGD:1353510 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 70494 Tert telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 70494 Tert telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:2291986|PMID:17644139 20080408 RGD protein:increased expression:urine 70494 Tert telomerase reverse transcriptase gene DOID:12241 beta thalassemia ISO RGD:1353510 D RGD:11038664|PMID:18466174 20160218 RGD mRNA:increased expression:bone marrow 70494 Tert telomerase reverse transcriptase gene DOID:12449 aplastic anemia ISO RGD:1353510 D RGD:11038668|PMID:23336163 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:12449 aplastic anemia ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814878 70494 Tert telomerase reverse transcriptase gene DOID:12449 aplastic anemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:12167716|PMID:15814878|PMID:15885610|PMID:16332973|PMID:16627250|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22424236|PMID:22476886|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26360549|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27848944|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29625052|PMID:30523342 70494 Tert telomerase reverse transcriptase gene DOID:12580 Cri-du-Chat syndrome ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12629597 70494 Tert telomerase reverse transcriptase gene DOID:1319 brain cancer ameliorates ISO RGD:1353510 D RGD:152985535|PMID:26014354 20220607 RGD DNA:SNP:cds:rs2736100 (human) 70494 Tert telomerase reverse transcriptase gene DOID:1324 lung cancer ISO RGD:1353510 D RGD:152977758|PMID:10969652 20220603 RGD mRNA:increased expression:lung 70494 Tert telomerase reverse transcriptase gene DOID:14566 disease of cellular proliferation ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 70494 Tert telomerase reverse transcriptase gene DOID:1612 breast cancer ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:1793 pancreatic cancer ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 70494 Tert telomerase reverse transcriptase gene DOID:1883 hepatitis C disease_progression ISO RGD:1353510 D RGD:14696782|PMID:24634940 20190725 RGD 70494 Tert telomerase reverse transcriptase gene DOID:1884 viral hepatitis disease_progression ISO RGD:1353510 D RGD:14696781|PMID:17212643 20190725 RGD 70494 Tert telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20856939 70494 Tert telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:152995261|PMID:25231748 20220610 RGD DNA:SNP:cds:rs455433|rs2736100 (human) 70494 Tert telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:2291969|PMID:14654933 20080408 RGD mRNA:increased expression:plasma 70494 Tert telomerase reverse transcriptase gene DOID:1967 leiomyosarcoma ISO RGD:1353510 D RGD:2298564|PMID:10652422 20080711 RGD mRNA:increased expression:myometrium 70494 Tert telomerase reverse transcriptase gene DOID:2154 nephroblastoma disease_progression ISO RGD:1353510 D RGD:2291966|PMID:16172460 20080408 RGD 70494 Tert telomerase reverse transcriptase gene DOID:224 transient cerebral ischemia treatment IDA D RGD:11038669|PMID:21914402 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:234 colon adenocarcinoma treatment ISO RGD:70505 D RGD:11038656|PMID:19903903 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:2361 macrocytic anemia ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Macrocytic anemia PMID:25741868|PMID:28099038|PMID:28492532|PMID:33035329 70494 Tert telomerase reverse transcriptase gene DOID:2513 basal cell carcinoma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 70494 Tert telomerase reverse transcriptase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:70505 D RGD:11038656|PMID:19903903 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1353510 D RGD:2291982|PMID:17961306 20080408 RGD mRNA:increased expression:urine, urothelial cell 70494 Tert telomerase reverse transcriptase gene DOID:2729 dyskeratosis congenita ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16247010|PMID:17785587|PMID:18042801 70494 Tert telomerase reverse transcriptase gene DOID:2729 dyskeratosis congenita ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21520174|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22853774|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26433962|PMID:26580448|PMID:26859482|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28818973|PMID:28873162|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31395865|PMID:33035329|PMID:33718801|PMID:34019641|PMID:9536098 70494 Tert telomerase reverse transcriptase gene DOID:3070 high grade glioma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18021753|PMID:19578367 70494 Tert telomerase reverse transcriptase gene DOID:3082 interstitial lung disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868|PMID:28492532|PMID:31268371 70494 Tert telomerase reverse transcriptase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease PMID:25741868|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:3307 teratoma ISO RGD:1353510 D RGD:2298558|PMID:12168080 20080711 RGD mRNA:decreased expression 70494 Tert telomerase reverse transcriptase gene DOID:3355 fibrosarcoma treatment ISO RGD:70505 D RGD:11038656|PMID:19903903 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:3393 coronary artery disease ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16890917 70494 Tert telomerase reverse transcriptase gene DOID:3459 breast carcinoma ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15814878|PMID:17460043|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:28154186|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353510 D RGD:152977757|PMID:15112252 20220603 RGD mRNA:increased expression:esophagus squamous epithelium: 70494 Tert telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1353510 D RGD:150530488|PMID:25007268 20211213 RGD DNA:SNP: :rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:11572962|PMID:26716642 20211213 RGD DNA:SNPs: : rs2853691,rs2736100(human) 70494 Tert telomerase reverse transcriptase gene DOID:3770 pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:12167716|PMID:15814878|PMID:15885610|PMID:16247010|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18931339|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:21349926|PMID:21483807|PMID:21543794|PMID:21602826|PMID:21931702|PMID:22364217|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23538340|PMID:23901009|PMID:24033266|PMID:25271372|PMID:25365545|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26360549|PMID:26859482|PMID:27418648|PMID:27540018|PMID:28099038|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:29483670|PMID:30523342|PMID:30995915|PMID:31268371|PMID:33035329|PMID:33718801|PMID:34890115 70494 Tert telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:150530498|PMID:23908149 20211214 RGD DNA:SNP:: rs2853669(human) 70494 Tert telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:150530635|PMID:31935503 20211220 RGD DNA:SNP::rs33963617(human) 70494 Tert telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 70494 Tert telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:150530632|PMID:27982019 20211220 RGD DNA:SNPs, haplotype: :rs2853669,rs2736108(human) 70494 Tert telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:150530644|PMID:24679952 20211220 RGD DNA:SNP: :rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:150530485|PMID:23738012 20211213 RGD DNA:SNP: :rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:150530498|PMID:23908149 20211214 RGD DNA:SNPs:: rs2853669,rs2736108(human) 70494 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:150530502|PMID:19955392 20211214 RGD DNA:SNP:: rs2736100(human) 70494 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:150530628|PMID:24761905 20211216 RGD DNA:SNP: :rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:150530635|PMID:31935503 20211220 RGD DNA:SNP::rs33963617(human) 70494 Tert telomerase reverse transcriptase gene DOID:3948 adrenocortical carcinoma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 70494 Tert telomerase reverse transcriptase gene DOID:4450 renal cell carcinoma ISO RGD:1353510 D RGD:2291980|PMID:18250061 20080408 RGD mRNA, protein:increased expression:kidney 70494 Tert telomerase reverse transcriptase gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1353510 D RGD:150530629|PMID:29450669 20211216 RGD DNA:SNP, haplotype: :rs2736100(human) 70494 Tert telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:1353510 D RGD:14696785|PMID:20723213 20190725 RGD mRNA:increased expression:liver: 70494 Tert telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1353510 D RGD:14696783|PMID:28460432 20190725 RGD 70494 Tert telomerase reverse transcriptase gene DOID:557 kidney disease ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 70494 Tert telomerase reverse transcriptase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353510 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:612 primary immunodeficiency disease ISO RGD:1353510 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 70494 Tert telomerase reverse transcriptase gene DOID:630 genetic disease ISO RGD:1353510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension ISO RGD:1353510 D RGD:11038675|PMID:24376652 20160219 RGD 70494 Tert telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension treatment IEP D RGD:11038675|PMID:24376652 20160219 RGD 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma IEP D RGD:11038673|PMID:20353272 20160218 RGD protein:increased expression, increased localization:nucleus 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma ISO RGD:1353510 D RGD:11530743|PMID:25683523 20190724 RGD DNA:hypermethylation:promoter 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16651430|PMID:22634754|PMID:25362482|PMID:25822088 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23000435|PMID:25741868|PMID:28492532|PMID:28677271 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:11564803|PMID:26575952 20190724 RGD DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:14696767|PMID:25123086 20190724 RGD DNA:mutations:promoter: 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:152975963|PMID:23907815 20220601 RGD associated with hepatitis B;DNA:SNP: :rs13167280 (human) 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1353510 D RGD:14696769|PMID:19184104 20190724 RGD 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:14696770|PMID:28416747 20190724 RGD DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:150530496|PMID:25339005 20211214 RGD DNA:SNPs::rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353510 D RGD:14696768|PMID:17175353 20190724 RGD 70494 Tert telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:7240710 20150610 OMIM 70494 Tert telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:20871597|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:31395865 70494 Tert telomerase reverse transcriptase gene DOID:769 neuroblastoma ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26523776 70494 Tert telomerase reverse transcriptase gene DOID:784 chronic kidney disease treatment IDA D RGD:11038770|PMID:23013219 20160224 RGD 70494 Tert telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:11038663|PMID:15068898 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 70494 Tert telomerase reverse transcriptase gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1353510 D RGD:2291985|PMID:17644806 20080408 RGD protein:increased expression:uterine cervix 70494 Tert telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11038671|PMID:23793903 20160218 RGD mRNA, protein:increased expression:spinal cord 70494 Tert telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353510 D RGD:2291993|PMID:15798365 20080408 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1353510 D RGD:152977755|PMID:11679180 20220603 RGD associated with lung non-small cell carcinoma; 70494 Tert telomerase reverse transcriptase gene DOID:9000300 Refractory Anemia ISO RGD:1353510 D RGD:11038658|PMID:18426652 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353510 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 70494 Tert telomerase reverse transcriptase gene DOID:9000528 Coronary Disease ISO RGD:1353510 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:16890917 70494 Tert telomerase reverse transcriptase gene DOID:9000881 Cutaneous Malignant Melanoma, Susceptibility To, 1 ISO RGD:1353510 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 70494 Tert telomerase reverse transcriptase gene DOID:9000918 Disease Progression ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 70494 Tert telomerase reverse transcriptase gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism 70494 Tert telomerase reverse transcriptase gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785587 70494 Tert telomerase reverse transcriptase gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:20502709|PMID:25741868|PMID:28492532|PMID:34890115 70494 Tert telomerase reverse transcriptase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:70505 D RGD:11574970|PMID:26725521 20190724 RGD mRNA,protein,activity:increased expression, increased activity:kupffer cell: 70494 Tert telomerase reverse transcriptase gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:11038673|PMID:20353272 20160218 RGD protein:increased expression, increased localization:nucleus 70494 Tert telomerase reverse transcriptase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353510 D RGD:11038676|PMID:19545665 20160219 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1353510 D RGD:11038662|PMID:17344921 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717|PMID:21743467 70494 Tert telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 70494 Tert telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:2291989|PMID:17273731 20080408 RGD mRNA:increased expression:serum 70494 Tert telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:2298564|PMID:10652422 20080711 RGD protein:increased activity:ovary 70494 Tert telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 70494 Tert telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:2291985|PMID:17644806 20080408 RGD protein:increased expression:uterine cervix 70494 Tert telomerase reverse transcriptase gene DOID:9003676 Brain Hypoxia-Ischemia treatment IDA D RGD:11038672|PMID:21940960 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9004009 Reperfusion Injury ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 70494 Tert telomerase reverse transcriptase gene DOID:9004118 Experimental Melanoma treatment ISO RGD:70505 D RGD:11038656|PMID:19903903 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9004268 Uterine Neoplasms ISO RGD:1353510 D RGD:2291989|PMID:17273731 20080408 RGD mRNA:increased expression:serum 70494 Tert telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25383969 70494 Tert telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:2291969|PMID:14654933 20080408 RGD mRNA:increased expression:plasma 70494 Tert telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:2291994|PMID:12915632 20080408 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9005014 Parkinsonism-Dystonia, Infantile ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms ISO RGD:1353510 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:11323394|PMID:19151717|PMID:23433592 70494 Tert telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:70505 D RGD:11038656|PMID:19903903 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:7240710 20150617 OMIM 70494 Tert telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:23335200|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27622320|PMID:27836952|PMID:27848944|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30203795|PMID:30523342|PMID:31268371 70494 Tert telomerase reverse transcriptase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2316310|PMID:20031167 20160219 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:1353510 D RGD:11038658|PMID:18426652 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9006945 Diabetic Cardiomyopathies treatment IEP D RGD:11038677|PMID:21264070 20160219 RGD associated with Diabetes Mellitus, Type 2 70494 Tert telomerase reverse transcriptase gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:1353510 D RGD:11038657|PMID:22133767 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15814878|PMID:19561322|PMID:20301779|PMID:23901009|PMID:25741868|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500 70494 Tert telomerase reverse transcriptase gene DOID:9007188 Liver Neoplasms ISO RGD:1353510 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 70494 Tert telomerase reverse transcriptase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353510 D RGD:2298562|PMID:11078809 20080711 RGD mRNA:increased expression:endometrium 70494 Tert telomerase reverse transcriptase gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353510 D RGD:14696786|PMID:29507683 20190725 RGD DNA:SNP, haplotype: :rs10069690,rs2242652(human) 70494 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 70494 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:2291969|PMID:14654933 20080408 RGD mRNA:increased expression:plasma 70494 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:2291981|PMID:17974999 20080408 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:2291987|PMID:17616810 20080408 RGD mRNA:increased expression:breast 70494 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1353510 D RGD:2291983|PMID:17848914 20080408 RGD DNA:SNPs:promoter:-1381C>T,-659G>A,-244C>T (human) 70494 Tert telomerase reverse transcriptase gene DOID:9074 systemic lupus erythematosus ISO RGD:1353510 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 70494 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:7240710 20130221 OMIM 70494 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532 70494 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1353510 D RGD:11038655|PMID:23826993 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9253 gastrointestinal stromal tumor susceptibility ISO RGD:1353510 D RGD:11531869|PMID:26372813 20211217 RGD DNA:SNP: :rs2736098(human) 70494 Tert telomerase reverse transcriptase gene DOID:9261 nasopharynx carcinoma ISO RGD:1353510 D RGD:11564613|PMID:26621837 20211213 RGD protein:increased expression:nasopharynx 70494 Tert telomerase reverse transcriptase gene DOID:9513 plasma cell leukemia ISO RGD:1353510 D RGD:11038665|PMID:11237381 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9538 multiple myeloma ISO RGD:1353510 D RGD:11038665|PMID:11237381 20160218 RGD 70494 Tert telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:11038654|PMID:23066086 20160218 RGD DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) 70494 Tert telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:11038667|PMID:15621763 20160218 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0050469 Costello syndrome ISO RGD:732023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:20301365|PMID:22327936|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732023 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23444215|PMID:25157968|PMID:26619011 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:732023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16439621|PMID:17703371 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29643386|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33482860 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:22177953|PMID:22848035|PMID:23093928|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:30087384|PMID:31942422 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:32005694|PMID:32978145|PMID:33502061|PMID:34006472|PMID:9536098 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:7240710 20170301 OMIM 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33128510|PMID:33482860|PMID:34006472 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:19915144|PMID:23614898|PMID:28492532 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:732023 D RGD:2292627|PMID:10216485 20080428 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:1909 melanoma ISO RGD:732023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:1909 melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17366577|PMID:17551924|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21107320|PMID:21383288|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22622578|PMID:23444215|PMID:23569304|PMID:23614898|PMID:24033266|PMID:24448821|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:32005694|PMID:32978145|PMID:7651428 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:1550208 D RGD:1582169|PMID:10536014 20061102 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:732023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732023 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma disease_progression IDA D RGD:2292631|PMID:12688676 20080428 RGD metastasis; inhibition reduced invasiveness of prostate tumor cells 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:732023 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:285 hairy cell leukemia ISO RGD:732023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24241536 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3070 high grade glioma ISO RGD:732023 D RGD:13702863|PMID:21057530 20180719 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3490 Noonan syndrome ISO RGD:732023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3490 Noonan syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:17366577|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22197931|PMID:22327936|PMID:22588879|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502|PMID:32978145 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:363 uterine cancer ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732023 D RGD:8554872 20170613 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:5133242|PMID:20951313 20110608 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:5133243|PMID:21277552 20110608 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29643386|PMID:30763456|PMID:7651428 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:7651428 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1550208 D RGD:150530476|PMID:21514245 20211210 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732023 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22135231 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732023 D RGD:151665107|PMID:29254206 20220310 RGD mRNA:increased expression:lung (human) 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18632602|PMID:21383288|PMID:22197931|PMID:22588879|PMID:23444215|PMID:24448821|PMID:25157968|PMID:25741868|PMID:26619011|PMID:29643386 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4001 ovarian carcinoma ISO RGD:732023 D RGD:2306053|PMID:12644821 20090319 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732023 D RGD:13838840|PMID:19513748 20190117 RGD protein:increased expression:pancreas (human) 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732023 D RGD:13838804|PMID:28849200 20190116 RGD human tissue in a mouse model 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:7240710 20200701 OMIM 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22177953|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:7651428 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:2292629|PMID:7664295 20080428 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:2292630|PMID:18172299 20080428 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4906 small intestine adenocarcinoma ISO RGD:732023 D RGD:13464351|PMID:19014680 20180104 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:4989 pancreatitis severity ISO RGD:1550208 D RGD:13838805|PMID:28090569 20190116 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:23444215|PMID:25157968|PMID:26619011 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732023 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:19915144|PMID:22177953|PMID:22197931|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29493581|PMID:30087384|PMID:31942422 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:83 cataract IMP D RGD:12801446|PMID:11222509 20170331 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:8923 skin melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2306052|PMID:15520221 20090318 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:liver 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732023 D RGD:11554173 20201012 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9002682 Cardiovascular Abnormalities susceptibility ISO RGD:732023 D RGD:1580093|PMID:16439621 20061102 RGD 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732023 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 70495 Map2k1 mitogen activated protein kinase kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732023 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:0050553 JMP syndrome ISO RGD:619564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:0050700 cardiomyopathy ISO RGD:619564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10620750 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:619564 D RGD:151665507|PMID:27286263 20220328 RGD human cell line in a mouse model 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:619564 D RGD:151665508|PMID:25548290 20220328 RGD human cell line in a mouse model 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:619564 D RGD:151665352|PMID:23624232 20220322 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:10652 Alzheimer's disease IEP D RGD:10047076|PMID:20529587 20150708 RGD mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619565 D RGD:10047104|PMID:17784957 20150709 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:114 heart disease ISO RGD:619565 D RGD:2311565|PMID:19617408 20090723 RGD associated with Diabetes Mellitus, Experimental 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:11476 osteoporosis treatment IMP D RGD:10045965|PMID:18442314 20150626 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:619564 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:13580 cholestasis ISO RGD:619564 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:13619 extrahepatic cholestasis ISO RGD:619564 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:1561 cognitive disorder ISO RGD:619565 D RGD:10412307|PMID:24371084 20151116 RGD associated with Chronic Cerebral Hypoperfusion; 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:1909 melanoma ameliorates ISO RGD:619565 D RGD:151665504|PMID:29907597 20220328 RGD mouse cell line in a mouse model 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:1993 rectum cancer susceptibility ISO RGD:619564 D RGD:150573807|PMID:23859041 20220404 RGD DNA:SNPs:introns: (rs851011, rs851006) (human) 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:13217411|PMID:23027623 20220404 RGD DNA:SNP:intron: (rs851016) (human) 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:150573807|PMID:23859041 20220404 RGD DNA:SNP:intron: (rs10807156) (human) 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619565 D RGD:10412312|PMID:15910777 20151116 RGD protein:hyperphosphorylation:motor neuron: 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:3571 liver cancer exacerbates ISO RGD:619565 D RGD:151665350|PMID:17468757 20220322 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:619564 D RGD:151665345|PMID:32243890 20220322 RGD mRNA:increased expression:stomach (human) 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:619564 D RGD:9068941 20220407 RGD mRNA:increased expression:stomach (human) PMID:30238991|REF_RGD_ID:151665792 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD mRNA:increased expression:lung (human) PMID:31969449|REF_RGD_ID:151665505 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:397 restrictive cardiomyopathy ISO RGD:619565 D RGD:1302548|PMID:11593045 20150113 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:4780 anti-basement membrane glomerulonephritis IEP D RGD:6218988|PMID:21894146 20130304 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:619565 D RGD:151665348|PMID:23271722 20220322 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:630 genetic disease ISO RGD:619564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:619565 D RGD:151665348|PMID:23271722 20220322 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619565 D RGD:151665347|PMID:25216638 20220322 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:8552 chronic myeloid leukemia ISO RGD:619564 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16818652 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619565 D RGD:2311566|PMID:19066844 20090723 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activity:kidney 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:619565 D RGD:151665504|PMID:29907597 20220328 RGD mouse cell line in a mouse model 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9004250 Hepatic Insufficiency ISO RGD:619564 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:619565 D RGD:151665503|PMID:30541887 20220328 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:619565 D RGD:151665504|PMID:29907597 20220328 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:619565 D RGD:151665506|PMID:24684847 20220328 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ISO RGD:619564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17468755 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ameliorates ISO RGD:619565 D RGD:151665505|PMID:31969449 20220328 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9005369 Hepatomegaly ISO RGD:619564 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9005930 Endotoxemia IEP D RGD:5135029|PMID:21641970 20120322 RGD protein:increased activity:small intestine mucosa 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9005930 Endotoxemia treatment IDA D RGD:10047418|PMID:24312512 20150713 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions susceptibility ISO RGD:619564 D RGD:151665351|PMID:26993769 20220322 RGD associated with lung non-small cell carcinoma;DNA:SNP:3' utr, intron: (rs3804451) (human) 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9007102 Myocardial Ischemia ISO RGD:619564 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:619564 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:17468757 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619565 D RGD:7495840|PMID:14749328 20131217 RGD 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:619565 D RGD:10412307|PMID:24371084 20151116 RGD protein:hyperphosphorylation:corpus callosum, endothelial cell, astrocyte: 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9256 colorectal cancer exacerbates ISO RGD:619565 D RGD:151665346|PMID:22828150 20220322 RGD associated with experimental colitis 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:619564 D RGD:151665502|PMID:32449282 20220328 RGD human cell line in a mouse model 70496 Mapk14 mitogen activated protein kinase 14 gene DOID:9743 diabetic neuropathy IDA D RGD:2311567|PMID:18579738 20090723 RGD associated with Diabetes Mellitus, Experimental 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:0080600 COVID-19 ISO RGD:735393 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:735393 D RGD:2299063|PMID:8618340 20080811 RGD 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:735393 D RGD:2299071|PMID:7614395 20080811 RGD mRNA:increased expression:urinary bladder 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:735393 D RGD:2299064|PMID:8605098 20080811 RGD 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:1749 squamous cell carcinoma severity ISO RGD:735393 D RGD:5133245|PMID:8978595 20110608 RGD protein:decreased expression:tumor (human) 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:2152 ovary epithelial cancer ISO RGD:735393 D RGD:2299069|PMID:7622307 20080811 RGD DNA:deletion 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:2394 ovarian cancer ISO RGD:735393 D RGD:2299066|PMID:8519661 20080811 RGD protein:increased expression:endometrium 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735393 D RGD:2299065|PMID:8636741 20080811 RGD 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:3307 teratoma ISO RGD:735393 D RGD:2299072|PMID:7518576 20080811 RGD DNA:deletion 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:3459 breast carcinoma ISO RGD:735393 D RGD:2299061|PMID:9036878 20080811 RGD 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735393 D RGD:5132867|PMID:17492507 20110602 RGD protein:increased expression:pancreas (human) 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735393 D RGD:2299059|PMID:9663430 20080811 RGD 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:735393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:769 neuroblastoma ISO RGD:735393 D RGD:1600229|PMID:8047138 20070305 RGD 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:2299061|PMID:9036878 20080811 RGD associated with Breast Neoplasms 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:2299062|PMID:8855975 20080811 RGD associated with Cervix Neoplasms; associated with Endometrial Neoplasms 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735393 D RGD:2299077|PMID:8102131 20080811 RGD associated with Breast Neoplasms 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15928304 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735393 D RGD:2299069|PMID:7622307 20080811 RGD associated with Ovarian Neoplasms 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9002669 Hypoxia ISO RGD:735393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9003936 Cardiomegaly IEP D RGD:5132887|PMID:14559858 20110606 RGD protein:increased expression:heart, plasma membrane (rat) 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 70497 Nme1 NME/NM23 nucleoside diphosphate kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0080547 non-alcoholic steatohepatitis treatment IEP D RGD:15092090|PMID:30038487 20200106 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:7240710 20170503 OMIM 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 PMID:11583829|PMID:16199547|PMID:16639407|PMID:25741868|PMID:26279205|PMID:27365489|PMID:28492532|PMID:29077208|PMID:29477724|PMID:31803180|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165|PMID:34447408|PMID:9383370 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:11054182|PMID:26068031 20180212 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:11554936|PMID:26788504 20180212 RGD DNA:indel:promoter 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer treatment ISO RGD:730892 D RGD:13506729|PMID:28797847 20180212 RGD DNA:SNPs, haplotype: :multiple 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10534 stomach cancer ISO RGD:730892 D RGD:126908003|PMID:31396300 20210524 RGD human cells in mouse model; associated with mental depression; protein:increased phosphorylation:stomach (human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:730893 D RGD:40902858|PMID:20565293 20201214 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:730892 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868|PMID:26279205|PMID:28492532|PMID:29477724|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12236 primary biliary cholangitis ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12351 alcoholic hepatitis treatment IEP D RGD:15036816|PMID:27939985 20200102 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12858 Huntington's disease severity ISO RGD:730893 D RGD:10045663|PMID:11211235 20150615 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer disease_progression ISO RGD:730892 D RGD:11535492|PMID:26300007 20220222 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer exacerbates ISO RGD:730893 D RGD:11535492|PMID:26300007 20220222 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1596 depressive disorder ISO RGD:730893 D RGD:126908003|PMID:31396300 20210524 RGD protein:increased phosphorylation:hippocampus (mouse) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1612 breast cancer treatment ISO RGD:730892 D RGD:13506729|PMID:28797847 20180212 RGD DNA:SNPs, haplotype: :multiple 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1909 melanoma ISO RGD:730892 D RGD:2298900|PMID:17492467 20080731 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10045943|PMID:9158652 20150624 RGD protein:increased expression:hippocampal pyramidal neuron, nucleus (rat) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:2316 brain ischemia ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18628779 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:299 adenocarcinoma ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3021 acute kidney failure ISO RGD:730892 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:730892 D RGD:39018559|PMID:22170554 20201214 RGD DNA:SNP:5'utr: (rs3138045) (human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3633 beta-mannosidosis ISO RGD:730892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730892 D RGD:13793391|PMID:17899287 20181005 RGD protein:increased expression:nucleus 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730892 D RGD:13793390|PMID:26221384 20181005 RGD DNA:polymorphism:rs28362491(human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:730892 D RGD:13451128|PMID:27919956 20190205 RGD mRNA:increased expression:pancreas (human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:409 liver disease ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15743782 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:5119 ovarian cyst ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26279205|PMID:28492532|PMID:29077208|PMID:29403474|PMID:29477724|PMID:31803180|PMID:32499645|PMID:32581362|PMID:32918165 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:630 genetic disease ISO RGD:730892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:649 prion disease severity ISO RGD:730893 D RGD:40902830|PMID:17573907 20201214 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730892 D RGD:40400751|PMID:19797428 20201211 RGD associated with Chronic Hepatitis B;DNA:insertion/deletion:3'utr: -94ins/delATTG (rs28720239) (human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:152177911|PMID:25999787 20220520 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:783 end stage renal disease ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:8929 atrophic gastritis severity ISO RGD:730893 D RGD:40902973|PMID:23975431 20201217 RGD associated with Helicobacter Infections 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730892 D RGD:13506764|PMID:17974971 20180212 RGD associated with prostate cancer 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9001455 Intestinal Helminthiasis disease_progression ISO RGD:730893 D RGD:40902988|PMID:12370384 20201221 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9001479 Cerebral Toxoplasmosis severity ISO RGD:730893 D RGD:40902838|PMID:20156658 20201214 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9002189 High Myopia ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9002676 Cerebral Hemorrhage IDA D RGD:2302394|PMID:17250675 20081216 RGD protein:increased activity:striatum 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:20715105 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730892 D RGD:11572306|PMID:26827631 20201220 RGD DNA:insertion:promoter: -94insATTG (rs28362491) (human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9004649 Heat Stroke ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9004912 Hyperoxaluria ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:730892 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730892 D RGD:40902984|PMID:31490979 20201219 RGD associated with tuberculosis ;DNA:SNPs,haplotypes: 3'utr,5'utr: (rs78872571,rs4647992) (human) 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment IEP D RGD:15090820|PMID:29091898 20200106 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730892 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:28823542 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9008865 Entamoebiasis severity ISO RGD:730893 D RGD:40902842|PMID:20086086 20201214 RGD 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9256 colorectal cancer ISO RGD:730893 D RGD:40902978|PMID:25727407 20201218 RGD associated with Experimental Colitis 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17107852 70498 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9452 fatty liver disease IDA D RGD:5135028|PMID:21643627 20120322 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16497974 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0050685 small cell carcinoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15981204 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737482 D RGD:152999012|PMID:20967871 20220716 RGD protein:increased expression:oral cavity (human) 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:737482 D RGD:2293106|PMID:16421596 20080509 RGD protein:increased expression:breast 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0060108 brain glioma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737482 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27770503 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0080365 endometrial hyperplasia ISO RGD:737482 D RGD:2298940|PMID:16803539 20080804 RGD protein:increased expression:endometrium 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0080600 COVID-19 ISO RGD:737482 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2293139|PMID:12604914 20080514 RGD mRNA:increased expression:pancreas 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:10283 prostate cancer ISO RGD:737482 D RGD:2293100|PMID:17804712 20080509 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:10283 prostate cancer severity ISO RGD:737482 D RGD:2293091|PMID:18336887 20080509 RGD mRNA:increased expression:prostate gland 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:11054 urinary bladder cancer ISO RGD:732772 D RGD:2293094|PMID:18089718 20080509 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737482 D RGD:2293096|PMID:17905101 20080509 RGD protein:increased expression:urinary bladder 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:2671 transitional cell carcinoma ISO RGD:737482 D RGD:2293093|PMID:18172282 20080509 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:2671 transitional cell carcinoma ISO RGD:737482 D RGD:2298937|PMID:17559031 20080804 RGD mRNA:increased expression:urine 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:737482 D RGD:2293099|PMID:17828507 20080509 RGD protein:increased expression:urinary bladder 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:289 endometriosis IMP D RGD:2293122|PMID:18386577 20080513 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:2913 acute pancreatitis IEP D RGD:9586043|PMID:19726343 20140925 RGD mRNA,protein:increased expression:pancreas 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:299 adenocarcinoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3070 high grade glioma IEP D RGD:2293131|PMID:17701349 20080513 RGD protein:increased expression:brain 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3275 thymoma ameliorates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3459 breast carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16382892 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:3963 thyroid gland carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4450 renal cell carcinoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16188142 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4450 renal cell carcinoma ISO RGD:737482 D RGD:2293108|PMID:12115583 20080509 RGD mRNA:splice variant 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737482 D RGD:2293102|PMID:17363528 20080509 RGD protein:increased expression:kidney 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4465 papillary renal cell carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4467 clear cell renal cell carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:4471 chromophobe renal cell carcinoma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:5517 stomach carcinoma IEP D RGD:2293138|PMID:12854136 20080514 RGD protein:increased expression:stomach 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:5844 myocardial infarction IEP D RGD:2293137|PMID:15081314 20080514 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:6000 congestive heart failure IEP D RGD:2293134|PMID:16257070 20080514 RGD associated with Hypertension;protein:decreased expression:cardiac muscle cell 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:630 genetic disease ISO RGD:737482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:6432 pulmonary hypertension IEP D RGD:2293135|PMID:15931388 20080514 RGD protein:increased expression:pulmonary artery 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:6432 pulmonary hypertension IMP D RGD:2293135|PMID:15931388 20080514 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16086872|PMID:20514400 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:737482 D RGD:153344528|PMID:17253596 20220822 RGD mRNA:increased expression:pleura, lung (human) 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16254145 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16166298 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737482 D RGD:2293098|PMID:17877643 20080509 RGD associated with Cervix Neoplasms;mRNA:splice variant 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737482 D RGD:2293103|PMID:17285241 20080509 RGD associated with Breast Neoplasms 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9000300 Refractory Anemia ISO RGD:737482 D RGD:11038658|PMID:18426652 20160218 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737482 D RGD:2298939|PMID:17441339 20080804 RGD protein:increased expression:ovary 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9000998 Brain Injuries IEP D RGD:2293136|PMID:15453988 20080514 RGD mRNA, protein:increased expression:brain, astrocyte, neuron 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2293129|PMID:17938867 20080513 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:2293125|PMID:18246794 20080513 RGD mRNA, protein:increased expression:liver 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:737482 D RGD:2293109|PMID:11150435 20080509 RGD mRNA, protein:increased expression:kidney 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737482 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29541389 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15970709|PMID:16202317|PMID:16211241|PMID:18567002 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737482 D RGD:2298935|PMID:18567002 20080804 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:737482 D RGD:2298936|PMID:18171606 20080804 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16224667|PMID:19147571 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:2293098|PMID:17877643 20080509 RGD mRNA:increased expression:uterine cervix 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737482 D RGD:2293101|PMID:17364499 20080509 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737482 D RGD:2293097|PMID:17890889 20080509 RGD protein:increased expression:uterine cervix 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9003566 Mesothelioma exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:737482 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9004009 Reperfusion Injury IEP D RGD:2293126|PMID:18159002 20080513 RGD protein:increased expression:brain 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9004009 Reperfusion Injury IMP D RGD:2293127|PMID:18053646 20080513 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737482 D RGD:2298940|PMID:16803539 20080804 RGD protein:increased expression:endometrium 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:737482 D RGD:2293095|PMID:18055328 20080509 RGD mRNA:increased expression:urine 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9005172 Lung Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15981204|PMID:16108013 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:737482 D RGD:11038658|PMID:18426652 20160218 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363521 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16364925 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:737482 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16322251|PMID:16818634 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:2293090|PMID:18451232 20080509 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:2293092|PMID:18227733 20080509 RGD protein:increased expression:breast 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:2293104|PMID:17240580 20080509 RGD 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:737482 D RGD:2293105|PMID:17086357 20080509 RGD mRNA:increased expression:blood 70499 Birc5 baculoviral IAP repeat-containing 5 gene DOID:9256 colorectal cancer ISO RGD:737482 D RGD:153344527|PMID:27827395 20220822 RGD mRNA, protein:increased expression:colonic mucosa (human) 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:10620750 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0050855 renal fibrosis IEP D RGD:7244171|PMID:23698112 20130524 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732502 D RGD:13210782|PMID:25405740 20170908 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0060001 withdrawal disorder ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0060041 autism spectrum disorder ISS RGD:732503 D RGD:13592920 20190516 MouseDO 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:732502 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:7240710 20201111 OMIM 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 13 PMID:25741868|PMID:28492532|PMID:32721402 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:32721402 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732502 D RGD:13800868|PMID:24334724 20181018 RGD mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:732503 D RGD:13800563|PMID:28079060 20181016 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:10808 gastric ulcer IDA D RGD:13800896|PMID:25518106 20181019 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732502 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:12098 trigeminal neuralgia ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:12577 urethral obstruction IEP D RGD:7244171|PMID:23698112 20130524 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:12583 velocardiofacial syndrome ISS RGD:732503 D RGD:13592920 20180518 MouseDO OMIM:192430 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:732502 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:1612 breast cancer ISO RGD:732502 D RGD:2314939|PMID:15928662 20091209 RGD protein:increased expression, increased phosphorylation:breast 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868|PMID:32721402 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532|PMID:32721402 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:1781 thyroid gland cancer disease_progression ISO RGD:732502 D RGD:13792721|PMID:28992617 20180924 RGD mRNA, protein:increased expression 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732503 D RGD:1582281|PMID:15669185 20061103 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:234 colon adenocarcinoma ISO RGD:732502 D RGD:13210775|PMID:24691442 20170907 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732502 D RGD:13504818|PMID:28492138 20180125 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732503 D RGD:13504820|PMID:22139534 20180125 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732502 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:732502 D RGD:13703137|PMID:14760076 20180806 RGD protein:decreased phosphorylation:endometrium (human) 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:732502 D RGD:13703125|PMID:23402905 20180803 RGD human tumor in a mouse model 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2871 endometrial carcinoma ISO RGD:732502 D RGD:13702082|PMID:29081408 20180716 RGD protein:increased expression:endometrium (human) 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2871 endometrial carcinoma severity ISO RGD:732502 D RGD:13441552|PMID:22459351 20180803 RGD protein:increased phosphorylation:endometrium (human) 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2921 glomerulonephritis ISO RGD:732503 D RGD:7243972|PMID:20203158 20130521 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732502 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:3213 demyelinating disease ISO RGD:732503 D RGD:13800879|PMID:27596241 20181018 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:13800881|PMID:27152455 20181018 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732502 D RGD:13451128|PMID:27919956 20190117 RGD mRNA:increased expression:pancreas (human) 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:4247 coronary restenosis IDA D RGD:1582284|PMID:15583728 20061103 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISS RGD:732503 D RGD:13592920 20180518 MouseDO OMIM:261800 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732502 D RGD:13504815|PMID:22517515 20180124 RGD DNA:missense mutation: :multiple 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:5199 ureteral obstruction treatment IDA D RGD:13800569|PMID:28063381 20181016 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732502 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:557 kidney disease ISO RGD:732502 D RGD:7243971|PMID:15213271 20130521 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:5844 myocardial infarction IDA D RGD:1582282|PMID:15653762 20061103 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:630 genetic disease ISO RGD:732502 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:732502 D RGD:13800893|PMID:25907942 20181019 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:6812 childhood pilocytic astrocytoma ISO RGD:732502 D RGD:13702864|PMID:21466243 20180720 RGD protein:increased expression:brain: 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:8541 Sezary's disease ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732502 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7545087 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9000040 Hypertrophy ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9000099 Experimental Colitis treatment IEP D RGD:13800882|PMID:27028006 20181018 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22247605 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:732503 D RGD:13504820|PMID:22139534 20180125 RGD associated with prostate adenocarcinoma 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9001390 Testis Reperfusion Injury treatment IMP D RGD:13800876|PMID:15944243 20181018 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment IEP D RGD:13800880|PMID:27396351 20181018 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732502 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9001708 Hemorrhagic Shock IEP D RGD:7244173|PMID:22392145 20130524 RGD protein: increased expression: lung and liver 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732502 D RGD:7243957|PMID:19923143 20130521 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002549 Shock treatment IDA D RGD:13800566|PMID:29110153 20181016 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002906 Multiple Organ Failure IEP D RGD:7244173|PMID:22392145 20130524 RGD protein: increased expression: lung and liver 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732502 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9003936 Cardiomegaly IDA D RGD:1582283|PMID:15607907 20061103 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:732502 D RGD:13441559|PMID:24917306 20171027 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9004484 Sepsis ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732502 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:732502 D RGD:13210776|PMID:23467982 20170907 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12376484 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:13800872|PMID:29435821 20181018 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16407894|PMID:20692647 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:5131482|PMID:21330660 20150717 RGD protein:decreased phosphorylation:cornea 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7243969|PMID:22045654 20130521 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9006880 Urinary Incontinence IEP D RGD:7244159|PMID:22950999 20130523 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:13800893|PMID:25907942 20181019 RGD associated with Diabetes Mellitus, Experimental 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9007402 Gliosis ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9007456 Female Infertility ISO RGD:732502 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732502 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:32721402 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1582282|PMID:15653762 20061103 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13800900|PMID:25345742 20181022 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732502 D RGD:13210794|PMID:10323886 20170911 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13506776|PMID:27259299 20180213 RGD protein:hyperphosphorylation:pancreas: 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus IDA D RGD:13506785|PMID:21911753 20180214 RGD protein:hypophosphorylation:pancreatic islet: 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732503 D RGD:13506777|PMID:28757391 20180213 RGD protein:increased expression:dorsal horn: 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:13506786|PMID:19164460 20180214 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732503 D RGD:13506775|PMID:26860984 20180213 RGD 70500 Mapk1 mitogen activated protein kinase 1 gene DOID:9970 obesity ISO RGD:732502 D RGD:13782055|PMID:20074784 20180816 RGD protein:increased phosphorylation:endometrium (human) 70508 SD Sprague-Dawley strain DOID:9007692 Insulin Resistance induced IAGP XCO:0000022, XCO:0000245 D RGD:68927|PMID:11246877 19990101 RGD compared to Controls 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:737339 D RGD:14928320|PMID:28502477 20190916 RGD mRNA:increased expression:liver: 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:737339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:11297587|PMID:12107234|PMID:12890567|PMID:19449676|PMID:22035731|PMID:25741868|PMID:28492532 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:737339 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:737339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:11397871|PMID:12364481|PMID:12606630|PMID:15240592|PMID:15728205|PMID:16213849|PMID:17161329|PMID:20389088|PMID:20696889|PMID:22745237|PMID:22766261|PMID:23295295|PMID:23341491|PMID:23643382|PMID:25016926|PMID:28492532|PMID:9371856 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:11567265|PMID:17235395 20161205 RGD DNA:missense mutations: :p.Q106R, p.R262Q (human) 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:7240710 20131030 OMIM 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:737339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10523035|PMID:10690855|PMID:10772899|PMID:10999776|PMID:11318785|PMID:11397842|PMID:11397871|PMID:11994356|PMID:12050282|PMID:12057744|PMID:12107234|PMID:12364481|PMID:12477532|PMID:12568864|PMID:12574221|PMID:12606630|PMID:12679486|PMID:15240592|PMID:15728205|PMID:16213849|PMID:16359986|PMID:16968799|PMID:17235395|PMID:20389088|PMID:20696889|PMID:21645587|PMID:21736917|PMID:22031817|PMID:22405597|PMID:22679506|PMID:22724017|PMID:22745237|PMID:22766261|PMID:22918878|PMID:23155690|PMID:23295295|PMID:23341491|PMID:23643382|PMID:23650335|PMID:24033266|PMID:24732674|PMID:25016926|PMID:25636053|PMID:25741868|PMID:26207952|PMID:26467025|PMID:26708526|PMID:27094476|PMID:27544332|PMID:27884859|PMID:28492532|PMID:28611058|PMID:29182666|PMID:30415482|PMID:30476149|PMID:32870266|PMID:33223529|PMID:7557974|PMID:9371856|PMID:9425890 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:13938 amenorrhea ISO RGD:737339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:10022417|PMID:10084584|PMID:10523035|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:1921 Klinefelter syndrome ISO RGD:737339 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:10022417|PMID:10084584|PMID:10690855|PMID:12574221|PMID:16968799|PMID:22724017|PMID:22745237|PMID:24732674|PMID:25741868|PMID:26207952|PMID:28492532|PMID:28611058|PMID:29182666|PMID:32870266|PMID:33223529|PMID:9371856|PMID:9425890 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:1924 hypogonadism ISO RGD:737339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15625238 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:5223 infertility ISO RGD:737339 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:10022417|PMID:10690855|PMID:10999776|PMID:11397842|PMID:11397871|PMID:12057744|PMID:12364481|PMID:12574221|PMID:12679486|PMID:15728205|PMID:17235395|PMID:20389088|PMID:20696889|PMID:21645587|PMID:22745237|PMID:23155690|PMID:23643382|PMID:23650335|PMID:24033266|PMID:25016926|PMID:25741868|PMID:26207952|PMID:28492532|PMID:29182666|PMID:30476149|PMID:33223529|PMID:7557974|PMID:9371856 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:9001239 Delayed Puberty ISO RGD:737339 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 70513 Gnrhr gonadotropin releasing hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737339 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:0080600 COVID-19 ISO RGD:70825 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:7240710 20170503 OMIM 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:8554872 20170509 ClinVar ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia PMID:25560765 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:70825 D RGD:13782365|PMID:15917097 20180907 RGD DNA:SNP:intron:g.149800G>C (human) 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment IEP D RGD:13508590|PMID:28269780 20180301 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70826 D RGD:13792587|PMID:28085018 20180914 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:12098 trigeminal neuralgia IDA D RGD:13782378|PMID:21161138 20180910 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:1596 depressive disorder treatment IDA D RGD:13782377|PMID:21682945 20180907 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:13506925|PMID:28254431 20180223 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:2316 brain ischemia IMP D RGD:734740|PMID:14502288 19990101 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:2843 long QT syndrome ISO RGD:70825 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70826 D RGD:734741|PMID:11343650 19990101 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:70826 D RGD:13782375|PMID:24920629 20180907 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:630 genetic disease ISO RGD:70825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:680 tauopathy ISO RGD:70825 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:8725 vascular dementia treatment IEP D RGD:13792766|PMID:27118553 20180926 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment IDA D RGD:13782374|PMID:25301568 20180907 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:9005372 Inflammation IDA D RGD:13782383|PMID:16407116 20180910 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70826 D RGD:734739|PMID:11268215 19990101 RGD 70514 Cdk5 cyclin-dependent kinase 5 gene DOID:9009105 HIV Encephalitis IDA D RGD:13506927|PMID:28107387 20180223 RGD protein:increased tyrosine phosphorylation:hippocampus 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:737380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0080016 spina bifida ISO RGD:737380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:7240710 20141015 OMIM 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome PMID:15326626|PMID:21412974|PMID:24387990|PMID:24387991|PMID:25741868|PMID:28272537|PMID:28492532|PMID:30559292 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:12849 autistic disorder ISO RGD:737380 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:14791 Leber congenital amaurosis ISO RGD:737380 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:5419 schizophrenia ISO RGD:737380 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:630 genetic disease ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326626|PMID:24387990|PMID:28492532|PMID:30559292 70515 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 70516 Car6 carbonic anhydrase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 70516 Car6 carbonic anhydrase 6 gene DOID:630 genetic disease ISO RGD:1323700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70516 Car6 carbonic anhydrase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323700 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis IEP D RGD:5131259|PMID:17586086 20110426 RGD mRNA, protein:decreased expression:intestine, myenteric nerve plexus 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis IMP D RGD:5490987|PMID:21330446 20110922 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:10763 hypertension ISO RGD:733138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10742107 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:1596 depressive disorder IEP D RGD:5147490|PMID:20860876 20110808 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:2030 anxiety disorder ISO RGD:733138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10742108 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:2841 asthma ISO RGD:733138 D RGD:5130938|PMID:18408560 20110415 RGD DNA:SNPs: :multiple (human) 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:326 ischemia IDA D RGD:5130953|PMID:19429103 20110415 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:3877 functional colonic disease IEP D RGD:5130948|PMID:20096320 20110415 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:4483 rhinitis ISO RGD:733138 D RGD:5130940|PMID:17597629 20110415 RGD mRNA, protein:increased expression:nasal cavity epithelium 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733138 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:552 pneumonia ISO RGD:733139 D RGD:5130933|PMID:16855006 20110414 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:630 genetic disease ISO RGD:733138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:767 muscular atrophy IDA D RGD:5130936|PMID:21235761 20110415 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:850 lung disease ISO RGD:733138 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16855006 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia IDA D RGD:5131264|PMID:17050037 20110426 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:733138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733139 D RGD:5147472|PMID:21774994 20110805 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1642796|PMID:11087261 20111018 RGD mRNA:decreased expression:left ventricle (rat) 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9005372 Inflammation ISO RGD:733138 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16855006 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733138 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9006024 Hypotension IDA D RGD:1581302|PMID:11036160 19990101 RGD 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9007877 Fetal Hypoxia IEP D RGD:5491006|PMID:19409200 20110926 RGD protein:decreased expression:paraventricular nucleus of hypothalamus (rat) 70547 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9778 irritable bowel syndrome IEP D RGD:5130948|PMID:20096320 20111006 RGD associated with Anxiety Disorders; protein:decreased expression:distal colon (rat) 70548 Ppbp pro-platelet basic protein gene DOID:0080600 COVID-19 ISO RGD:736390 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 70548 Ppbp pro-platelet basic protein gene DOID:10763 hypertension ISO RGD:736390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:6192689|PMID:15513305 70548 Ppbp pro-platelet basic protein gene DOID:1205 allergic disease ISO RGD:736390 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 70548 Ppbp pro-platelet basic protein gene DOID:630 genetic disease ISO RGD:736390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70548 Ppbp pro-platelet basic protein gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:736390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 70548 Ppbp pro-platelet basic protein gene DOID:9005172 Lung Neoplasms ISO RGD:736390 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 70548 Ppbp pro-platelet basic protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736390 D RGD:1625598|PMID:14730686 20070614 RGD 70549 Hrk harakiri, BCL2 interacting protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620927 D RGD:13506949|PMID:29440992 20180226 RGD 70549 Hrk harakiri, BCL2 interacting protein gene DOID:630 genetic disease ISO RGD:731025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70551 Lrrc15 leucine rich repeat containing 15 gene DOID:630 genetic disease ISO RGD:733250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602231 D RGD:13831303|PMID:27270436 20181220 RGD 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:10283 prostate cancer treatment ISO RGD:1602231 D RGD:13831303|PMID:27270436 20181220 RGD 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:1324 lung cancer ISO RGD:1602231 D RGD:13831302|PMID:23936004 20181220 RGD 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:1612 breast cancer ISO RGD:1602231 D RGD:13831301|PMID:23512947 20181220 RGD mRNA:increased expression:breast 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:1612 breast cancer disease_progression ISO RGD:1602231 D RGD:13831299|PMID:28977883 20181220 RGD DNA:deletion 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:2841 asthma ISO RGD:1602231 D RGD:13831295|PMID:19221603 20181220 RGD DNA:hypermethylation:promoter 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:630 genetic disease ISO RGD:1602231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:9002283 Experimental Allergic Asthma ISO RGD:733171 D RGD:13831300|PMID:23526225 20181220 RGD 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602231 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:9005372 Inflammation IEP D RGD:2315920|PMID:14622223 20181220 RGD mRNA:increased expression:spinal cord 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13831298|PMID:21136146 20181220 RGD 70552 Acsl3 acyl-CoA synthetase long-chain family member 3 gene DOID:9007925 Sudden Cardiac Death disease_progression ISO RGD:1602231 D RGD:13831296|PMID:22661490 20181220 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:0060903 thrombosis IMP D RGD:1600652|PMID:11422211 20070322 RGD associated with Anti-Glomerular Basement Membrane Disease 70553 C5ar1 complement C5a receptor 1 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:733148 D RGD:30309958|PMID:30634407 20200623 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:733148 D RGD:5130168|PMID:11292607 20110406 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1350810 D RGD:5130177|PMID:12759460 20110407 RGD protein:decreased expression:brain 70553 C5ar1 complement C5a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment IMP D RGD:2303017|PMID:16782534 20180926 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:1227 neutropenia IDA D RGD:5130180|PMID:10516626 20110407 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:14115 toxic shock syndrome ISO RGD:1350810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18063050 70553 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma IEP D RGD:5129560|PMID:17544263 20110405 RGD protein:increased expression:lung, leukocyte 70553 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:5129681|PMID:20802484 20110405 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:5130166|PMID:16511606 20110406 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma severity ISO RGD:1350810 D RGD:5129561|PMID:15940127 20110405 RGD protein:increased expression:respiratory tract 70553 C5ar1 complement C5a receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350810 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 70553 C5ar1 complement C5a receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350810 D RGD:5130165|PMID:19926870 20110406 RGD protein:increased expression:lung, mast cell 70553 C5ar1 complement C5a receptor 1 gene DOID:332 amyotrophic lateral sclerosis IMP D RGD:5130169|PMID:19050293 20110406 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:4483 rhinitis ISO RGD:1350810 D RGD:5129559|PMID:18538384 20110405 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:630 genetic disease ISO RGD:1350810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70553 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease IEP D RGD:5129560|PMID:17544263 20110405 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte 70553 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:5129564|PMID:21421909 20110404 RGD Acute Lung Injury 70553 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:5130168|PMID:11292607 20110406 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing 70553 C5ar1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350810 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70553 C5ar1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733148 D RGD:1600592|PMID:15995705 20180205 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:9002906 Multiple Organ Failure IMP D RGD:5130167|PMID:14718840 20110406 RGD associated with Aortic Aneurysm, Abdominal 70553 C5ar1 complement C5a receptor 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:1600597|PMID:15158333 20110406 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:9004009 Reperfusion Injury IMP D RGD:5129702|PMID:15159277 20110405 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:9004484 Sepsis IMP D RGD:5130170|PMID:18648551 20110406 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:9004484 Sepsis disease_progression IEP D RGD:5130176|PMID:12897064 20110407 RGD 70553 C5ar1 complement C5a receptor 1 gene DOID:9005930 Endotoxemia IEP D RGD:70679|PMID:9272704 20180404 RGD mRNA:increased expression:lung 70553 C5ar1 complement C5a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733148 D RGD:5129560|PMID:17544263 20110405 RGD protein:increased expression:lung, leukocyte 70553 C5ar1 complement C5a receptor 1 gene DOID:9970 obesity treatment IDA D RGD:7411625|PMID:23118029 20131114 RGD 70554 Tamalin trafficking regulator and scaffold protein tamalin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733545 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 70554 Tamalin trafficking regulator and scaffold protein tamalin gene DOID:630 genetic disease ISO RGD:733545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708342 Parm1 prostate androgen-regulated mucin-like protein 1 gene DOID:630 genetic disease ISO RGD:1604031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708342 Parm1 prostate androgen-regulated mucin-like protein 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1604031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 708343 Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6 gene DOID:630 genetic disease ISO RGD:1602229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708343 Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602229 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 708344 Gnb3 G protein subunit beta 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346162 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 708344 Gnb3 G protein subunit beta 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 708344 Gnb3 G protein subunit beta 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 708344 Gnb3 G protein subunit beta 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346162 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 708344 Gnb3 G protein subunit beta 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346162 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 708344 Gnb3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:7240710 20230517 OMIM 708344 Gnb3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 708344 Gnb3 G protein subunit beta 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1346162 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 708344 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension ISO RGD:1346162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 708344 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension no_association ISO RGD:1346162 D RGD:2313206|PMID:16908025 20090914 RGD DNA:polymorphism: :multiple (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:1580408|PMID:11230982 19990101 RGD DNA:SNP:cds: 825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:1580410|PMID:10526907 19990101 RGD DNA:SNP:cds:825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 708344 Gnb3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:7240710 20230517 OMIM 708344 Gnb3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 708344 Gnb3 G protein subunit beta 3 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1346162 D RGD:2313205|PMID:17161225 20090914 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:1596 depressive disorder susceptibility ISO RGD:1346162 D RGD:1358639|PMID:12634518 19990101 RGD DNA:SNP:cds: 825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:3393 coronary artery disease ISO RGD:1346162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 708344 Gnb3 G protein subunit beta 3 gene DOID:3407 carotid artery disease ISO RGD:1346162 D RGD:1580411|PMID:12624279 19990101 RGD 708344 Gnb3 G protein subunit beta 3 gene DOID:630 genetic disease ISO RGD:1346162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708344 Gnb3 G protein subunit beta 3 gene DOID:9004657 Weight Gain ISO RGD:1346162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 708344 Gnb3 G protein subunit beta 3 gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:1346162 D RGD:1580406|PMID:11910300 20180212 RGD DNA:SNP: : 825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:1346162 D RGD:1580411|PMID:12624279 20110705 RGD DNA:polymorphism: :825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346162 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 708344 Gnb3 G protein subunit beta 3 gene DOID:9351 diabetes mellitus no_association ISO RGD:1346162 D RGD:2313206|PMID:16908025 20090914 RGD DNA:polymorphism: :multiple (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12511541 708344 Gnb3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:2313204|PMID:18656447 20090914 RGD DNA:polymorphism: :825C>T (human) 708344 Gnb3 G protein subunit beta 3 gene DOID:9970 obesity ISO RGD:1346162 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 708345 Ube2b ubiquitin-conjugating enzyme E2B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708345 Ube2b ubiquitin-conjugating enzyme E2B gene DOID:630 genetic disease ISO RGD:1349526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708345 Ube2b ubiquitin-conjugating enzyme E2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349526 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708345 Ube2b ubiquitin-conjugating enzyme E2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 708345 Ube2b ubiquitin-conjugating enzyme E2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708346 Zfp384 zinc finger protein 384 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 708346 Zfp384 zinc finger protein 384 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345674 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 708346 Zfp384 zinc finger protein 384 gene DOID:0111621 Temtamy syndrome ISO RGD:1345674 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 708346 Zfp384 zinc finger protein 384 gene DOID:630 genetic disease ISO RGD:1345674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708346 Zfp384 zinc finger protein 384 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345674 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 708347 Begain brain-enriched guanylate kinase-associated gene DOID:0080600 COVID-19 ISO RGD:731845 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708347 Begain brain-enriched guanylate kinase-associated gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:731845 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 708347 Begain brain-enriched guanylate kinase-associated gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731845 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 708347 Begain brain-enriched guanylate kinase-associated gene DOID:630 genetic disease ISO RGD:731845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708347 Begain brain-enriched guanylate kinase-associated gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731845 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 708349 Dlgap3 DLG associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347439 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 708350 Dlgap4 DLG associated protein 4 gene DOID:0060041 autism spectrum disorder ISS RGD:1331940 D RGD:13592920 20190919 MouseDO 708350 Dlgap4 DLG associated protein 4 gene DOID:2234 focal epilepsy ISO RGD:1605091 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 708350 Dlgap4 DLG associated protein 4 gene DOID:630 genetic disease ISO RGD:1605091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708351 Kdm3a lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9586733|PMID:22120715 20141003 RGD mRNA:increased expression:prostate (human) 708351 Kdm3a lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9587486|PMID:20127736 20141120 RGD mRNA:increased expression:prostate gland (human) 708351 Kdm3a lysine demethylase 3A gene DOID:219 colon cancer severity ISO RGD:1346048 D RGD:9590225|PMID:19858293 20141120 RGD human gene in a mouse model 708351 Kdm3a lysine demethylase 3A gene DOID:3369 Ewing sarcoma ISO RGD:1346048 D RGD:9590218|PMID:24362521 20141120 RGD mRNA:increased expression:bone marrow (human) 708351 Kdm3a lysine demethylase 3A gene DOID:4362 cervical cancer severity ISO RGD:1346048 D RGD:9590219|PMID:23492365 20141120 RGD human gene in a mouse model 708351 Kdm3a lysine demethylase 3A gene DOID:630 genetic disease ISO RGD:1346048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708351 Kdm3a lysine demethylase 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1346048 D RGD:9590222|PMID:21607773 20141120 RGD mRNA:increased expression:liver (human) 708351 Kdm3a lysine demethylase 3A gene DOID:9002669 Hypoxia IEP D RGD:9586363|PMID:18538129 20140930 RGD mRNA:increased expression:multiple (rat) 708351 Kdm3a lysine demethylase 3A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 708351 Kdm3a lysine demethylase 3A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1346048 D RGD:9590228|PMID:21541331 20141120 RGD protein:decreased expression:nasopharyngeal epithelium (human) 708351 Kdm3a lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9590220|PMID:19875498 20141120 RGD 708351 Kdm3a lysine demethylase 3A gene DOID:9970 obesity ISS RGD:737255 D RGD:13592920 20180518 MouseDO OMIM:601665 708352 Defb22 defensin beta 22 gene DOID:630 genetic disease ISO RGD:1352735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708354 Nexn nexilin (F actin binding protein) gene DOID:0050700 cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:26383259|PMID:27332903|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776|PMID:34363016|PMID:9536098 708354 Nexn nexilin (F actin binding protein) gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:20970104|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31514951|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 708354 Nexn nexilin (F actin binding protein) gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:27486136|PMID:28492532|PMID:28798025 708354 Nexn nexilin (F actin binding protein) gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:7240710 20140911 OMIM 708354 Nexn nexilin (F actin binding protein) gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:9536098 708354 Nexn nexilin (F actin binding protein) gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:7240710 20130425 OMIM 708354 Nexn nexilin (F actin binding protein) gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:16199547|PMID:17576681|PMID:19763152|PMID:19881492|PMID:20307669|PMID:20970104|PMID:22406018|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:24866383|PMID:25163546|PMID:25640679|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27066507|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28704380|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:9536098 708354 Nexn nexilin (F actin binding protein) gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1354261 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 708354 Nexn nexilin (F actin binding protein) gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532 708354 Nexn nexilin (F actin binding protein) gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 708354 Nexn nexilin (F actin binding protein) gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30847666|PMID:31028938|PMID:34363016 708354 Nexn nexilin (F actin binding protein) gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19881492|PMID:24033266|PMID:25163546|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33949776 708354 Nexn nexilin (F actin binding protein) gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 708354 Nexn nexilin (F actin binding protein) gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:27532257|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 708354 Nexn nexilin (F actin binding protein) gene DOID:2843 long QT syndrome ISO RGD:1354261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868 708354 Nexn nexilin (F actin binding protein) gene DOID:630 genetic disease ISO RGD:1354261 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:33500567 708354 Nexn nexilin (F actin binding protein) gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1354261 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 708354 Nexn nexilin (F actin binding protein) gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354261 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:28492532 708354 Nexn nexilin (F actin binding protein) gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1354261 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:19881492|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:28492532 708355 Txndc9 thioredoxin domain containing 9 gene DOID:630 genetic disease ISO RGD:1352767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708356 Ppp2r2d protein phosphatase 2, regulatory subunit B, delta gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351294 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 708356 Ppp2r2d protein phosphatase 2, regulatory subunit B, delta gene DOID:630 genetic disease ISO RGD:1351294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:20301641|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28847448|PMID:28902413|PMID:31152969|PMID:32376792|PMID:9536098 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732078 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:7240710 20130221 OMIM 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H PMID:15744041|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:19332693|PMID:20301641|PMID:22734899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:15744041|PMID:17564959|PMID:17564972|PMID:19332693|PMID:20301641|PMID:22734899|PMID:23466821|PMID:23550889|PMID:24078732|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 708357 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:630 genetic disease ISO RGD:732078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1348827 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:7240710 20130425 OMIM 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 56 PMID:20673862|PMID:24876279|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31736247 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:10283 prostate cancer ISO RGD:1348827 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20673862|PMID:22277662|PMID:24876279|PMID:24938718|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30054919|PMID:30718709|PMID:31264916|PMID:9536098 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:4448 macular degeneration ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:20673862|PMID:24876279|PMID:28492532|PMID:30718709 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:28492532 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:8501 fundus dystrophy ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20673862|PMID:24876279|PMID:25472526|PMID:25741868|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28644393|PMID:28771251|PMID:31264916|PMID:9536098 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1348827 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868|PMID:28492532 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:7240710 20170510 OMIM 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:20673862|PMID:24876279|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28492532|PMID:28644393|PMID:31264916 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:1348827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 708358 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1348827 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:20673862|PMID:28041643 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:7240710 20200722 OMIM 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 32 PMID:16189710|PMID:28492532|PMID:30157172 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:12849 autistic disorder ISO RGD:1604384 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:630 genetic disease ISO RGD:1604384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1604384 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome PMID:24033266|PMID:25741868|PMID:28492532 708359 Clcc1 chloride channel CLIC-like 1 gene DOID:9004538 Hearing Loss ISO RGD:1604384 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 708360 Phrf1 PHD and ring finger domains 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 708360 Phrf1 PHD and ring finger domains 1 gene DOID:0050729 neutral lipid storage disease ISO RGD:1605972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 708360 Phrf1 PHD and ring finger domains 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605972 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 708360 Phrf1 PHD and ring finger domains 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 708360 Phrf1 PHD and ring finger domains 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 708360 Phrf1 PHD and ring finger domains 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1605972 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 708360 Phrf1 PHD and ring finger domains 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605972 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 708360 Phrf1 PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1605972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708360 Phrf1 PHD and ring finger domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1605972 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 708362 Scaf8 SR-related CTD-associated factor 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 708362 Scaf8 SR-related CTD-associated factor 8 gene DOID:630 genetic disease ISO RGD:1342919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708364 Cyp4f5 cytochrome P450, family 4, subfamily f, polypeptide 5 gene DOID:6000 congestive heart failure IEP D RGD:1642301|PMID:16497176 20111012 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum 708365 Cyp4f6 cytochrome P450, family 4, subfamily f, polypeptide 6 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1353889 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2283606) T>C (human) PMID:27354594|REF_RGD_ID:152177496 708365 Cyp4f6 cytochrome P450, family 4, subfamily f, polypeptide 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1353889 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708365 Cyp4f6 cytochrome P450, family 4, subfamily f, polypeptide 6 gene DOID:630 genetic disease ISO RGD:1353889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708366 Synpr synaptoporin gene DOID:630 genetic disease ISO RGD:731737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708367 Hsd17b12 hydroxysteroid (17-beta) dehydrogenase 12 gene DOID:1059 intellectual disability ISO RGD:1346748 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708367 Hsd17b12 hydroxysteroid (17-beta) dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1346748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708369 Ptar1 protein prenyltransferase alpha subunit repeat containing 1 gene DOID:630 genetic disease ISO RGD:1313649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0050589 inflammatory bowel disease ISO RGD:732385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0050777 Joubert syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:0081097 Rafiq syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 708370 Card9 caspase recruitment domain family, member 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 708370 Card9 caspase recruitment domain family, member 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:732385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 708370 Card9 caspase recruitment domain family, member 9 gene DOID:3652 Leigh disease ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:612 primary immunodeficiency disease ISO RGD:732385 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 708370 Card9 caspase recruitment domain family, member 9 gene DOID:630 genetic disease ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708370 Card9 caspase recruitment domain family, member 9 gene DOID:7147 ankylosing spondylitis ISO RGD:732385 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 708370 Card9 caspase recruitment domain family, member 9 gene DOID:8577 ulcerative colitis ISO RGD:732385 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 708370 Card9 caspase recruitment domain family, member 9 gene DOID:9005249 Immunodeficiency 103 ISO RGD:732385 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism 708370 Card9 caspase recruitment domain family, member 9 gene DOID:9005249 Immunodeficiency 103 ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:16199547|PMID:17576681|PMID:19864672|PMID:21983784|PMID:22730530|PMID:23335372|PMID:24033266|PMID:24068945|PMID:24131138|PMID:24231284|PMID:24704721|PMID:25702837|PMID:25731871|PMID:25741868|PMID:25933095|PMID:26038974|PMID:26521038|PMID:26679537|PMID:26961233|PMID:27490946|PMID:27777981|PMID:28252032|PMID:28492532|PMID:28842327|PMID:29080677|PMID:29307770|PMID:29890237|PMID:30136218|PMID:30429846|PMID:30537277|PMID:30809743|PMID:30837984|PMID:31102464|PMID:31414217|PMID:31469433|PMID:32888943|PMID:33414972|PMID:33558980|PMID:33872781|PMID:34234782|PMID:35628702|PMID:9536098|PMID:9835960 708370 Card9 caspase recruitment domain family, member 9 gene DOID:9005249 Immunodeficiency 103 susceptibility ISO RGD:732385 D RGD:7240710 20220629 OMIM 708370 Card9 caspase recruitment domain family, member 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 708371 Tmem33 transmembrane protein 33 gene DOID:630 genetic disease ISO RGD:1353146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708372 Erc2 ELKS/RAB6-interacting/CAST family member 2 gene DOID:630 genetic disease ISO RGD:1607056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708373 Tmsb15b2 thymosin beta 15B2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602496 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 708373 Tmsb15b2 thymosin beta 15B2 gene DOID:12849 autistic disorder ISO RGD:1602496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708374 Obp2b odorant binding protein 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 708374 Obp2b odorant binding protein 2B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347589 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 708374 Obp2b odorant binding protein 2B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 708374 Obp2b odorant binding protein 2B gene DOID:0081097 Rafiq syndrome ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 708374 Obp2b odorant binding protein 2B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347589 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 708374 Obp2b odorant binding protein 2B gene DOID:3652 Leigh disease ISO RGD:1347589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 708374 Obp2b odorant binding protein 2B gene DOID:630 genetic disease ISO RGD:1347589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708375 Hpcal1 hippocalcin-like 1 gene DOID:630 genetic disease ISO RGD:1348150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708375 Hpcal1 hippocalcin-like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348150 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708376 Psmc5 proteasome 26S subunit, ATPase 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:732741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 708376 Psmc5 proteasome 26S subunit, ATPase 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732741 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 708376 Psmc5 proteasome 26S subunit, ATPase 5 gene DOID:630 genetic disease ISO RGD:732741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708377 Zbtb10 zinc finger and BTB domain containing 10 gene DOID:11782 astigmatism ISO RGD:1348951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 708377 Zbtb10 zinc finger and BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1348951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708378 Senp2 SUMO specific peptidase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1351152 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 708378 Senp2 SUMO specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1351152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708378 Senp2 SUMO specific peptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351152 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:29535048 708378 Senp2 SUMO specific peptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351152 D RGD:11554173 20181016 CTD CTD Direct Evidence: therapeutic PMID:29535048 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:13580 cholestasis disease_progression IEP D RGD:13782189|PMID:29204052 20180828 RGD 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:1612 breast cancer no_association ISO RGD:1352962 D RGD:9068941 20210827 RGD PMID:15180491|REF_RGD_ID:5685600 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:1883 hepatitis C ISO RGD:1352962 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism PMID:8864187 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:2030 anxiety disorder IMP D RGD:5685599|PMID:17376576 20120111 RGD protein:altered activity::treatment 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:2987 familial Mediterranean fever sexual_dimorphism ISO RGD:1352962 D RGD:9068941 20210827 RGD DNA:SNPs: :15713T>C,15615T>C (human) PMID:23408444|REF_RGD_ID:39456097 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:3347 osteosarcoma ISO RGD:1352962 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:4001 ovarian carcinoma ISO RGD:1352962 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352962 D RGD:8554872 20210831 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:630 genetic disease ISO RGD:1352962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:783 end stage renal disease IEP D RGD:7296923|PMID:12039987 20130904 RGD mRNA, protein:decreased expression:intestine 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352962 D RGD:9068941 20210827 RGD DNA:snp:cds:p.I118V (human) PMID:18566305|REF_RGD_ID:5685415 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352962 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism PMID:15496535 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9004506 VITAMIN D-DEPENDENT RICKETS, TYPE 3 ISO RGD:1352962 D RGD:7240710 20210825 OMIM 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9004506 VITAMIN D-DEPENDENT RICKETS, TYPE 3 ISO RGD:1352962 D RGD:8554872 20210831 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3 PMID:29461981 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9005372 Inflammation EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:21467745 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9005444 Torsades de Pointes ISO RGD:1352962 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism PMID:15875343 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9005539 Familial Prostate Cancer no_association ISO RGD:1352962 D RGD:5685600|PMID:15180491 20120111 RGD 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352962 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352962 D RGD:11554173 20210831 CTD CTD Direct Evidence: marker/mechanism PMID:15496535 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1352962 D RGD:5685600|PMID:15180491 20120111 RGD 708379 Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 gene DOID:9352 type 2 diabetes mellitus EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12707859 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:734925|PMID:11704758 19990101 RGD 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:731553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:731553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0111546 Currarino syndrome ISO RGD:731553 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:10579 leukodystrophy ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:3910 lung adenocarcinoma ISO RGD:731553 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:543 dystonia ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:28492532|PMID:30755392 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:630 genetic disease ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704758|PMID:12707859|PMID:14993275|PMID:22699478|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9002704 Leukoencephalopathies ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9004484 Sepsis IDA D RGD:11041880|PMID:12376332 20160331 RGD protein:increased serine phosphorylation:gastrocnemius 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005314 Leukoencephalopathy with Vanishing White Matter 5 ISO RGD:731553 D RGD:7240710 20230505 OMIM 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005314 Leukoencephalopathy with Vanishing White Matter 5 ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14694060|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15136690|PMID:15507143|PMID:15723074|PMID:15776425|PMID:16041584|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18266750|PMID:18294360|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19170749|PMID:19531691|PMID:19625339|PMID:20301435|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22238342|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:28492532|PMID:28914269|PMID:33432707 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9005348 Leukoencephalopathy with Vanishing White Matter 1 ISO RGD:731553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 708380 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9008824 Sarcopenia IDA D RGD:10395315|PMID:15187001 20150901 RGD 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:0080600 COVID-19 ISO RGD:1342594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:7240710 20170823 OMIM 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME PMID:17576681|PMID:23647072|PMID:25644381|PMID:25741868|PMID:25741869|PMID:26633542|PMID:27550844|PMID:28492532|PMID:29314583|PMID:31452935|PMID:31690835|PMID:31780880|PMID:33880059|PMID:8826458|PMID:9415477|PMID:9536098 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:1059 intellectual disability ISO RGD:1342594 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:10907 microcephaly ISO RGD:1342594 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:12849 autistic disorder ISO RGD:1342594 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:1826 epilepsy ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:630 genetic disease ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27550844|PMID:28492532|PMID:29314583 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342594 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708381 Clcn4 chloride voltage-gated channel 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1342594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 708383 Acsm2 acyl-CoA synthetase medium-chain family member 2 gene DOID:630 genetic disease ISO RGD:1606171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708385 Zfp382 zinc finger protein 382 gene DOID:630 genetic disease ISO RGD:1352355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708385 Zfp382 zinc finger protein 382 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1352355 D RGD:150527841|PMID:25009298 20211202 RGD associated with stomach carcinoma;DNA:hypermethylation 708387 Cdk5rap1 CDK5 regulatory subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1602114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708388 Aspg asparaginase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1344860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 708388 Aspg asparaginase gene DOID:10211 cholelithiasis ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 708388 Aspg asparaginase gene DOID:11755 choledocholithiasis ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 708388 Aspg asparaginase gene DOID:1588 thrombocytopenia ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 708388 Aspg asparaginase gene DOID:2355 anemia ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 708388 Aspg asparaginase gene DOID:615 leukopenia ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 708388 Aspg asparaginase gene DOID:630 genetic disease ISO RGD:1344860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708388 Aspg asparaginase gene DOID:684 hepatocellular carcinoma ISO RGD:1344860 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 708388 Aspg asparaginase gene DOID:9000363 Hematuria ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 708388 Aspg asparaginase gene DOID:9000972 Fever ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 708388 Aspg asparaginase gene DOID:9007278 Anaphylaxis ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:65671 708388 Aspg asparaginase gene DOID:9008385 Vomiting ISO RGD:1344860 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 708389 Dus1l dihydrouridine synthase 1-like gene DOID:630 genetic disease ISO RGD:1605962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708389 Dus1l dihydrouridine synthase 1-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605962 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348646 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:0060903 thrombosis ISO RGD:1348646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16754899 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1348646 D RGD:11353807|PMID:21225912 20160722 RGD DNA:polymorphisms: : 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:10825 essential hypertension ISO RGD:1348646 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:10825 essential hypertension ISO RGD:1348646 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:10825 essential hypertension susceptibility ISO RGD:1348646 D RGD:7240710 20230505 OMIM 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:2527 nephrosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:18725544 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:3602 toxic encephalopathy ISO RGD:1348646 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21225912 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:437 myasthenia gravis ISO RGD:1348646 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348646 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:557 kidney disease ISO RGD:1348646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18408564|PMID:20526235 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:630 genetic disease ISO RGD:1348646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1348646 D RGD:11353798|PMID:21039054 20160722 RGD DNA:polymorphism:intron :6986A>G(human) 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1348646 D RGD:11353810|PMID:19584153 20160722 RGD DNA:SNP::rs776746(human) 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18306354 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9002867 Myeloid Leukemia, Chronic-Phase treatment ISO RGD:1348646 D RGD:11353797|PMID:23394475 20160722 RGD DNA:polymorphism:intron :6986A>G(human) 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1348646 D RGD:11353804|PMID:19332043 20160722 RGD associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9004009 Reperfusion Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:1348646 D RGD:11353800|PMID:21702053 20160722 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1348646 D RGD:11353800|PMID:21702053 20160722 RGD associated with Ovarian Neoplasms: DNA:polymorphism: : 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1348646 D RGD:11353804|PMID:19332043 20160722 RGD associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1348646 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum:non-inflamed tissue PMID:16917230|REF_RGD_ID:5685614 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1348646 D RGD:11353796|PMID:19650988 20160722 RGD 708392 Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1348646 D RGD:11353805|PMID:22215203 20160722 RGD DNA:polymorphism: : 708394 Slc7a6os solute carrier family 7, member 6 opposite strand gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 708394 Slc7a6os solute carrier family 7, member 6 opposite strand gene DOID:630 genetic disease ISO RGD:1602091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708394 Slc7a6os solute carrier family 7, member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:7240710 20210303 OMIM 708394 Slc7a6os solute carrier family 7, member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 708394 Slc7a6os solute carrier family 7, member 6 opposite strand gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1602091 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 708399 Hibadh 3-hydroxyisobutyrate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732658 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 708399 Hibadh 3-hydroxyisobutyrate dehydrogenase gene DOID:630 genetic disease ISO RGD:732658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708400 Bspry B-box and SPRY domain containing gene DOID:630 genetic disease ISO RGD:1347567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708401 Arfip1 ADP-ribosylation factor interacting protein 1 gene DOID:630 genetic disease ISO RGD:732747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708403 Tmem176b transmembrane protein 176B gene DOID:2843 long QT syndrome ISO RGD:1606306 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 708403 Tmem176b transmembrane protein 176B gene DOID:630 genetic disease ISO RGD:1606306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:2750 glycogen storage disease IV ISO RGD:731853 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:630 genetic disease ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33413275 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:731853 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731853 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:7240710 20170405 OMIM 708404 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency PMID:16199547|PMID:17576681|PMID:18691923|PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29260357|PMID:31127727|PMID:31407473|PMID:32187699|PMID:33413275|PMID:9536098 708405 Scaf1 SR-related CTD-associated factor 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 708405 Scaf1 SR-related CTD-associated factor 1 gene DOID:12849 autistic disorder ISO RGD:733391 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 708405 Scaf1 SR-related CTD-associated factor 1 gene DOID:630 genetic disease ISO RGD:733391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708407 Pex5l peroxisomal biogenesis factor 5-like gene DOID:0111546 Currarino syndrome ISO RGD:1345397 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 708407 Pex5l peroxisomal biogenesis factor 5-like gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1345397 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 708407 Pex5l peroxisomal biogenesis factor 5-like gene DOID:630 genetic disease ISO RGD:1345397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708408 Exoc5 exocyst complex component 5 gene DOID:0070314 obstructive nephropathy ISS RGD:1622168 D RGD:13592920 20190718 MouseDO 708408 Exoc5 exocyst complex component 5 gene DOID:630 genetic disease ISO RGD:731494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708410 Pde4dip phosphodiesterase 4D interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1352019 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708410 Pde4dip phosphodiesterase 4D interacting protein gene DOID:5419 schizophrenia ISO RGD:1352019 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708410 Pde4dip phosphodiesterase 4D interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1352019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 708410 Pde4dip phosphodiesterase 4D interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352019 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708411 Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:732268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 708411 Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:732268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 708411 Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 gene DOID:0111546 Currarino syndrome ISO RGD:732268 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 708413 Pias3 protein inhibitor of activated STAT, 3 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1344818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 708413 Pias3 protein inhibitor of activated STAT, 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344818 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708413 Pias3 protein inhibitor of activated STAT, 3 gene DOID:5419 schizophrenia ISO RGD:1344818 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708413 Pias3 protein inhibitor of activated STAT, 3 gene DOID:630 genetic disease ISO RGD:1344818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708413 Pias3 protein inhibitor of activated STAT, 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344818 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 708413 Pias3 protein inhibitor of activated STAT, 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344818 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708415 Carhsp1 calcium regulated heat stable protein 1 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:733909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 708415 Carhsp1 calcium regulated heat stable protein 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:733909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 708415 Carhsp1 calcium regulated heat stable protein 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 708415 Carhsp1 calcium regulated heat stable protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 708415 Carhsp1 calcium regulated heat stable protein 1 gene DOID:630 genetic disease ISO RGD:733909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708415 Carhsp1 calcium regulated heat stable protein 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment IEP D RGD:39128203|PMID:19997081 20200925 RGD 708416 Negr1 neuronal growth regulator 1 gene DOID:1059 intellectual disability ISO RGD:1348692 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 708416 Negr1 neuronal growth regulator 1 gene DOID:5434 scrapie ISO RGD:1332157 D RGD:40886276|PMID:29087046 20201203 RGD 708416 Negr1 neuronal growth regulator 1 gene DOID:630 genetic disease ISO RGD:1348692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708416 Negr1 neuronal growth regulator 1 gene DOID:9970 obesity ISO RGD:1348692 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 708417 Ugt2b7 UDP glucuronosyltransferase family 2 member B7 gene DOID:0060041 autism spectrum disorder ISO RGD:1351542 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708417 Ugt2b7 UDP glucuronosyltransferase family 2 member B7 gene DOID:11054 urinary bladder cancer ISO RGD:1351542 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15615884 708417 Ugt2b7 UDP glucuronosyltransferase family 2 member B7 gene DOID:630 genetic disease ISO RGD:1351542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708417 Ugt2b7 UDP glucuronosyltransferase family 2 member B7 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1351542 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 708418 Cd40lg CD40 ligand gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1352959 D RGD:8547765|PMID:18050371 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:0050175 tick-borne encephalitis ISO RGD:1352959 D RGD:11352252|PMID:16463218 20160712 RGD protein:increased expression:cerebrospinal fluid (human) 708418 Cd40lg CD40 ligand gene DOID:0050185 erythema multiforme ISO RGD:1352959 D RGD:8547765|PMID:18050371 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:0050589 inflammatory bowel disease ISS RGD:1615151 D RGD:13592920 20180518 MouseDO 708418 Cd40lg CD40 ligand gene DOID:0050731 vitamin B12 deficiency treatment IDA D RGD:2313422|PMID:16716410 20160826 RGD 708418 Cd40lg CD40 ligand gene DOID:0050873 follicular lymphoma ISO RGD:1352959 D RGD:11344981|PMID:25582824 20160711 RGD human gene in a mouse model 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:11039457|PMID:17553565 20160712 RGD DNA:mutations:multiple (human) 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:15611226 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:7240710 20131030 OMIM 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:8547779|PMID:16508335 20140221 RGD DNA:missense mutation:exon:p.T169N (526T>A) (human) 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:8547781|PMID:15358621 20140221 RGD DNA:mutations:exon, intron:multiple 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35572607|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1615151|RGD:1352959 D RGD:5490298|PMID:21841160 20110913 RGD 708418 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21841160|REF_RGD_ID:5490298 708418 Cd40lg CD40 ligand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352959 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 708418 Cd40lg CD40 ligand gene DOID:0060825 Christianson syndrome ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 708418 Cd40lg CD40 ligand gene DOID:0060903 thrombosis ISO RGD:1615151 D RGD:5490522|PMID:21914625 20110915 RGD associated with Endotoxemia 708418 Cd40lg CD40 ligand gene DOID:0060903 thrombosis susceptibility ISO RGD:1352959 D RGD:11352250|PMID:15306157 20160712 RGD protein:increased expression:plasma (human) 708418 Cd40lg CD40 ligand gene DOID:0060903 thrombosis treatment IDA D RGD:11344959|PMID:27085896 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:0070355 overactive bladder syndrome ISO RGD:1352959 D RGD:7248423|PMID:19784793 20130801 RGD protein:increased expression:urine 708418 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1352959 D RGD:7248426|PMID:20726330 20130802 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1615151 D RGD:7248714|PMID:11751940 20130816 RGD 708418 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1352959 D RGD:7248439|PMID:15693003 20130805 RGD 708418 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1352959 D RGD:7248710|PMID:12632425 20130815 RGD 708418 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1615151 D RGD:7248600|PMID:13130474 20130809 RGD 708418 Cd40lg CD40 ligand gene DOID:0080544 hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM PMID:10484640|PMID:15358621|PMID:17351759|PMID:19575287|PMID:20301576|PMID:24402618|PMID:25541662|PMID:28492532|PMID:9746782 708418 Cd40lg CD40 ligand gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:1615151 D RGD:32716379|PMID:30911758 20200626 RGD 708418 Cd40lg CD40 ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1615151 D RGD:11352269|PMID:12970789 20160713 RGD 708418 Cd40lg CD40 ligand gene DOID:10223 dermatomyositis ISO RGD:1352959 D RGD:8547765|PMID:18050371 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1352959 D RGD:11522717|PMID:9450802 20160804 RGD protein:increased expression:serum (human) 708418 Cd40lg CD40 ligand gene DOID:10591 pre-eclampsia ISO RGD:1352959 D RGD:11522719|PMID:23241952 20160804 RGD protein:increased expression:blood platelet (human) 708418 Cd40lg CD40 ligand gene DOID:10591 pre-eclampsia treatment IMP D RGD:11056772|PMID:26310940 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1352959 D RGD:8547803|PMID:11755016 20140224 RGD protein:increased expression:frontal cortex, astrocyte 708418 Cd40lg CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1615151 D RGD:8547803|PMID:11755016 20140224 RGD 708418 Cd40lg CD40 ligand gene DOID:10923 sickle cell anemia ISO RGD:1352959 D RGD:11352270|PMID:24368019 20160713 RGD protein:increased expression:plasma (human) 708418 Cd40lg CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:7248430|PMID:17911451 20130802 RGD associated with Lupus Erythematosus, Systemic 708418 Cd40lg CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:7248720|PMID:7564113 20130816 RGD 708418 Cd40lg CD40 ligand gene DOID:1100 ovarian disease treatment ISO RGD:1615151 D RGD:11531132|PMID:12574329 20160826 RGD associated with Autoimmune Diseases 708418 Cd40lg CD40 ligand gene DOID:11054 urinary bladder cancer treatment ISO RGD:1615151 D RGD:7248437|PMID:16361570 20130805 RGD 708418 Cd40lg CD40 ligand gene DOID:1168 familial hyperlipidemia ISO RGD:1352959 D RGD:5490594|PMID:21485068 20110920 RGD 708418 Cd40lg CD40 ligand gene DOID:11702 dysgammaglobulinemia ISO RGD:1352959 D RGD:1599480|PMID:7678782 20070206 RGD Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 708418 Cd40lg CD40 ligand gene DOID:11713 diabetic angiopathy ISO RGD:1352959 D RGD:2314223|PMID:14963650 20091106 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:1205 allergic disease ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 708418 Cd40lg CD40 ligand gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1352959 D RGD:5490596|PMID:21411717 20110920 RGD 708418 Cd40lg CD40 ligand gene DOID:12134 factor VIII deficiency treatment ISO RGD:1615151 D RGD:11352263|PMID:11776297 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:12177 common variable immunodeficiency ISO RGD:1352959 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:25741868 708418 Cd40lg CD40 ligand gene DOID:12361 Graves' disease treatment ISO RGD:1352959 D RGD:8547747|PMID:8875745 20140220 RGD 708418 Cd40lg CD40 ligand gene DOID:12365 malaria severity ISO RGD:1615151 D RGD:11352239|PMID:11485931 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:12449 aplastic anemia ISO RGD:1352959 D RGD:11352267|PMID:22537155 20160713 RGD protein:decreased expression:serum (human) 708418 Cd40lg CD40 ligand gene DOID:12849 autistic disorder ISO RGD:1352959 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708418 Cd40lg CD40 ligand gene DOID:1287 cardiovascular system disease ISO RGD:1352959 D RGD:7248433|PMID:17314326 20130805 RGD associated with Kidney Failure, Chronic 708418 Cd40lg CD40 ligand gene DOID:1287 cardiovascular system disease severity ISO RGD:1352959 D RGD:7248722|PMID:21303961 20130816 RGD associated with Kidney Failure, Chronic;protein:increased expression:plasma 708418 Cd40lg CD40 ligand gene DOID:12894 Sjogren's syndrome ISO RGD:1352959 D RGD:11520791|PMID:12472667 20160712 RGD protein:increased expression:salivary ductal epithelium (human) 708418 Cd40lg CD40 ligand gene DOID:13133 HELLP syndrome ISO RGD:1352959 D RGD:11522719|PMID:23241952 20160804 RGD protein:increased expression:blood platelet (human) 708418 Cd40lg CD40 ligand gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1615151 D RGD:7248599|PMID:14569091 20130809 RGD 708418 Cd40lg CD40 ligand gene DOID:13241 Behcet's disease ISO RGD:1352959 D RGD:8547820|PMID:22116092 20140224 RGD protein:increased expression:plasma 708418 Cd40lg CD40 ligand gene DOID:13378 Kawasaki disease treatment ISO RGD:1352959 D RGD:11352236|PMID:12563087 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:13922 eosinophilic esophagitis ISO RGD:1352959 D RGD:5490306|PMID:21211656 20110913 RGD protein:decreased expression:plasma 708418 Cd40lg CD40 ligand gene DOID:1485 cystic fibrosis ISO RGD:1352959 D RGD:7248443|PMID:15102009 20130805 RGD protein:increased expression:blood 708418 Cd40lg CD40 ligand gene DOID:1588 thrombocytopenia treatment ISO RGD:1615151 D RGD:11352243|PMID:11865192 20160712 RGD associated with Malaria 708418 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis IEP D RGD:1582628|PMID:16317521 20140224 RGD 708418 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1352959 D RGD:7248421|PMID:21817131 20130801 RGD protein:increased expression:plasma 708418 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1615151 D RGD:5490529|PMID:20705757 20110915 RGD 708418 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis treatment IDA D RGD:11344965|PMID:26261622 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis treatment IEP D RGD:8547801|PMID:23984971 20140224 RGD associated with Hypercholesterolemia 708418 Cd40lg CD40 ligand gene DOID:2224 essential thrombocythemia ISO RGD:1352959 D RGD:11344979|PMID:22196954 20160711 RGD protein:increased expression:serum (human) 708418 Cd40lg CD40 ligand gene DOID:224 transient cerebral ischemia severity ISO RGD:1615151 D RGD:11352234|PMID:15795333 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:2527 nephrosis ISO RGD:1615151 D RGD:7248422|PMID:19889873 20130801 RGD 708418 Cd40lg CD40 ligand gene DOID:2841 asthma severity ISO RGD:1615151 D RGD:11352238|PMID:9502776 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:2988 antiphospholipid syndrome ISO RGD:1352959 D RGD:11344980|PMID:16188945 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20348957 708418 Cd40lg CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1615151 D RGD:5490547|PMID:20348957 20110916 RGD 708418 Cd40lg CD40 ligand gene DOID:3388 periodontal disease IEP D RGD:5024938|PMID:20618701 20110915 RGD mRNA:increased expression:lymph node, B cell, T cell 708418 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease IEP D RGD:7248750|PMID:23819214 20130816 RGD protein:increased expression:coronary artery, serum 708418 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16368305 708418 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:2314209|PMID:17635572 20091105 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:7248436|PMID:16494885 20130805 RGD associated with Kidney Failure, Chronic 708418 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:8547776|PMID:22645426 20140221 RGD associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human) 708418 Cd40lg CD40 ligand gene DOID:3407 carotid artery disease ISO RGD:1352959 D RGD:2314211|PMID:16752185 20091105 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:3407 carotid artery disease disease_progression ISO RGD:1352959 D RGD:2314188|PMID:15817881 20091106 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet 708418 Cd40lg CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15494542 708418 Cd40lg CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1615151 D RGD:5490595|PMID:21414847 20110920 RGD 708418 Cd40lg CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1615151 D RGD:8547751|PMID:11535630 20140220 RGD 708418 Cd40lg CD40 ligand gene DOID:4481 allergic rhinitis ISO RGD:1352959 D RGD:8547782|PMID:19086656 20140221 RGD protein:increased expression:lymphocyte 708418 Cd40lg CD40 ligand gene DOID:4780 anti-basement membrane glomerulonephritis IMP D RGD:5508170|PMID:15458437 20111005 RGD 708418 Cd40lg CD40 ligand gene DOID:5050 Ehrlich tumor carcinoma treatment IDA D RGD:11352683|PMID:19269163 20160714 RGD 708418 Cd40lg CD40 ligand gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352959 D RGD:5490598|PMID:21177803 20110920 RGD 708418 Cd40lg CD40 ligand gene DOID:552 pneumonia ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 708418 Cd40lg CD40 ligand gene DOID:557 kidney disease treatment ISO RGD:1615151 D RGD:7248601|PMID:12969144 20130809 RGD 708418 Cd40lg CD40 ligand gene DOID:5844 myocardial infarction ISO RGD:1352959 D RGD:2314209|PMID:17635572 20091105 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:6000 congestive heart failure ISO RGD:1352959 D RGD:2314219|PMID:15716285 20091106 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1352959 D RGD:5490593|PMID:21543760 20110920 RGD DNA:polymorphism: :p.G219R (human) 708418 Cd40lg CD40 ligand gene DOID:630 genetic disease ISO RGD:1352959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15358621|PMID:28492532|PMID:8094231 708418 Cd40lg CD40 ligand gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:1615151 D RGD:11344976|PMID:9499800 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:6364 migraine ISO RGD:1352959 D RGD:5490597|PMID:21331754 20110920 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:6432 pulmonary hypertension IEP D RGD:11344970|PMID:25998782 20160711 RGD protein:increased expression:serum (rat) 708418 Cd40lg CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 708418 Cd40lg CD40 ligand gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35572607|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 708418 Cd40lg CD40 ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1615151 D RGD:2313413|PMID:19016771 20110929 RGD 708418 Cd40lg CD40 ligand gene DOID:783 end stage renal disease ISO RGD:1352959 D RGD:7248427|PMID:19019166 20130802 RGD protein:increased expression:plasma 708418 Cd40lg CD40 ligand gene DOID:824 periodontitis ISO RGD:1352959 D RGD:11352302|PMID:22523383 20160713 RGD protein:increased expression:serum (human) 708418 Cd40lg CD40 ligand gene DOID:8283 peritonitis ISO RGD:1615151 D RGD:7248438|PMID:15780086 20130805 RGD 708418 Cd40lg CD40 ligand gene DOID:8566 herpes simplex ISO RGD:1615151 D RGD:8547770|PMID:11134274 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352959 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 708418 Cd40lg CD40 ligand gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5490305|PMID:21240009 20110913 RGD protein:decreased expression:ileum 708418 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:11344977|PMID:17654056 20160711 RGD protein:increased expression:peripheral blood, T lymphocyte (human) 708418 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:11344980|PMID:16188945 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1615151 D RGD:11352267|PMID:22537155 20160713 RGD protein:decreased expression:serum (mouse) 708418 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1352959 D RGD:11352237|PMID:18341638 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:8986 narcolepsy ISO RGD:1352959 D RGD:11352261|PMID:21669245 20160712 RGD protein:decreased expression:serum (human) 708418 Cd40lg CD40 ligand gene DOID:9000469 Viral Myocarditis treatment IMP D RGD:13702886|PMID:11945021 20180723 RGD 708418 Cd40lg CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1615151 D RGD:13702885|PMID:19914091 20180723 RGD 708418 Cd40lg CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1615151 D RGD:13702888|PMID:9721703 20180723 RGD 708418 Cd40lg CD40 ligand gene DOID:9000528 Coronary Disease treatment IDA D RGD:7248750|PMID:23819214 20160713 RGD 708418 Cd40lg CD40 ligand gene DOID:9000656 Penetrating Wounds treatment IDA D RGD:11352274|PMID:25153915 20160713 RGD 708418 Cd40lg CD40 ligand gene DOID:9000784 Fibrosis treatment ISO RGD:1615151 D RGD:8547759|PMID:17823201 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:9000808 Hypercholesterolemia IEP D RGD:7248754|PMID:21574786 20160714 RGD protein:increased expression:platelet (rat) 708418 Cd40lg CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment IDA D RGD:11344960|PMID:26950185 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1352959 D RGD:7248428|PMID:18787388 20130802 RGD associated with Diabetes Mellitus, Type 2 708418 Cd40lg CD40 ligand gene DOID:9000998 Brain Injuries IEP D RGD:8547803|PMID:11755016 20140224 RGD 708418 Cd40lg CD40 ligand gene DOID:9000998 Brain Injuries treatment IDA D RGD:11344972|PMID:25972624 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1615151 D RGD:5491179|PMID:19035311 20110929 RGD 708418 Cd40lg CD40 ligand gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352959 D RGD:5490548|PMID:20170788 20110916 RGD associated with Anxiety Disorders;protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:1352959 D RGD:21081509|PMID:31624788 20200221 RGD 708418 Cd40lg CD40 ligand gene DOID:9002153 Chronic Allograft Dysfunction treatment IDA D RGD:11352297|PMID:22826618 20160713 RGD liver 708418 Cd40lg CD40 ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352959 D RGD:2314208|PMID:18756582 20091105 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352959 D RGD:11352235|PMID:20882050 20160712 RGD mouse-human chimeric gene in human 708418 Cd40lg CD40 ligand gene DOID:9002457 Experimental Arthritis IEP D RGD:11352298|PMID:22611405 20160713 RGD protein:increased expression:plasma (rat) 708418 Cd40lg CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:1615151 D RGD:11352696|PMID:7689748 20160715 RGD 708418 Cd40lg CD40 ligand gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:11344958|PMID:27218142 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:9002549 Shock ISO RGD:1352959 D RGD:5490973|PMID:20490890 20110921 RGD protein:increased expression:plasma 708418 Cd40lg CD40 ligand gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1615151 D RGD:4891397|PMID:20400704 20110916 RGD 708418 Cd40lg CD40 ligand gene DOID:9002928 Colonic Neoplasms ISO RGD:1615151 D RGD:5490978|PMID:20378141 20110921 RGD 708418 Cd40lg CD40 ligand gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Visceral heterotaxia PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 708418 Cd40lg CD40 ligand gene DOID:9004009 Reperfusion Injury IMP D RGD:5508171|PMID:12388354 20111005 RGD 708418 Cd40lg CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:1615151 D RGD:5490531|PMID:20659085 20110915 RGD 708418 Cd40lg CD40 ligand gene DOID:9004203 Chromosome Breakage ISO RGD:1352959 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 708418 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:7248420|PMID:22948742 20130801 RGD 708418 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:7248719|PMID:10949194 20130816 RGD protein:increased expression:blood, T cell 708418 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection treatment IMP D RGD:7248598|PMID:15016184 20130809 RGD associated with Diabetes Mellitus 708418 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:1615151 D RGD:8547783|PMID:15808676 20140224 RGD 708418 Cd40lg CD40 ligand gene DOID:9004397 calcification of aortic valve treatment IDA D RGD:11352276|PMID:24374105 20160713 RGD 708418 Cd40lg CD40 ligand gene DOID:9004484 Sepsis IEP D RGD:11352671|PMID:20933523 20160714 RGD mRNA:increased expression:heart (rat) 708418 Cd40lg CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312338|PMID:19237211 20160714 RGD protein:increased expression:platelet (rat) 708418 Cd40lg CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1615151 D RGD:11352661|PMID:21831422 20160714 RGD 708418 Cd40lg CD40 ligand gene DOID:9005749 Necrosis ISO RGD:1352959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22295117 708418 Cd40lg CD40 ligand gene DOID:9005837 Cholangiofibrosis treatment IDA D RGD:11352285|PMID:23820408 20160713 RGD 708418 Cd40lg CD40 ligand gene DOID:9006332 Vascular Calcification ISO RGD:1352959 D RGD:7248436|PMID:16494885 20130805 RGD associated with Coronary Artery Disease 708418 Cd40lg CD40 ligand gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome treatment ISO RGD:1615151 D RGD:11520796|PMID:8642687 20160803 RGD 708418 Cd40lg CD40 ligand gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1615151 D RGD:8547777|PMID:15972638 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:2314214|PMID:16423632 20091105 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:5490591|PMID:20006362 20110920 RGD 708418 Cd40lg CD40 ligand gene DOID:9006647 Experimental Autoimmune Neuritis IEP D RGD:5491181|PMID:17188497 20110929 RGD 708418 Cd40lg CD40 ligand gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:1615151 D RGD:7248713|PMID:12244161 20130816 RGD 708418 Cd40lg CD40 ligand gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1352959 D RGD:8547765|PMID:18050371 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1352959 D RGD:11352252|PMID:16463218 20160712 RGD protein:increased expression:cerebrospinal fluid (human) 708418 Cd40lg CD40 ligand gene DOID:9007102 Myocardial Ischemia IEP D RGD:11352684|PMID:19204010 20160714 RGD protein:increased expression:myocardium (rat) 708418 Cd40lg CD40 ligand gene DOID:9007102 Myocardial Ischemia treatment IDA D RGD:11352677|PMID:19565716 20160714 RGD 708418 Cd40lg CD40 ligand gene DOID:9007110 Subacute Combined Degeneration IEP D RGD:2313422|PMID:16716410 20110929 RGD protein:increased expression:cerebrospinal fluid 708418 Cd40lg CD40 ligand gene DOID:9007110 Subacute Combined Degeneration treatment IDA D RGD:2313422|PMID:16716410 20160804 RGD 708418 Cd40lg CD40 ligand gene DOID:9007355 Hashimoto Disease ISO RGD:1352959 D RGD:8547767|PMID:17558708 20140221 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 708418 Cd40lg CD40 ligand gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment IMP D RGD:8547800|PMID:11359850 20140224 RGD 708418 Cd40lg CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:28793932 708418 Cd40lg CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:7248426|PMID:20726330 20130802 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1615151 D RGD:11352248|PMID:9036998 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:9146 visceral leishmaniasis ISO RGD:1615151 D RGD:8547750|PMID:14573667 20140220 RGD 708418 Cd40lg CD40 ligand gene DOID:9182 pemphigus ISO RGD:1352959 D RGD:8547773|PMID:17531537 20140221 RGD mRNA, protein:increased expression:skin, serum 708418 Cd40lg CD40 ligand gene DOID:9201 lichen planus ISO RGD:1352959 D RGD:8547765|PMID:18050371 20140221 RGD 708418 Cd40lg CD40 ligand gene DOID:9351 diabetes mellitus ISO RGD:1352959 D RGD:2314209|PMID:17635572 20091105 RGD associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:2314214|PMID:16423632 20091105 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:5688143|PMID:19280268 20200221 RGD associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue 708418 Cd40lg CD40 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1352959 D RGD:11352268|PMID:27243341 20160713 RGD protein:increased expression:serum (human) 708418 Cd40lg CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1352959 D RGD:11352251|PMID:22403003 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1615151 D RGD:11352240|PMID:15565183 20160712 RGD 708418 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus IMP D RGD:5491182|PMID:16611325 20110929 RGD 708418 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352959 D RGD:2314212|PMID:16505242 20091105 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1615151 D RGD:2314220|PMID:15448088 20091106 RGD 708418 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment IMP D RGD:8547798|PMID:12419284 20140224 RGD 708418 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1615151 D RGD:11344963|PMID:26716812 20160711 RGD 708418 Cd40lg CD40 ligand gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1615151 D RGD:11352271|PMID:9292526 20160713 RGD 708418 Cd40lg CD40 ligand gene DOID:9970 obesity ISO RGD:1352959 D RGD:5490970|PMID:20660932 20110921 RGD protein:increased expression:serum 708418 Cd40lg CD40 ligand gene DOID:9970 obesity ISO RGD:1615151 D RGD:5490592|PMID:21817098 20110920 RGD 708419 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1605645 D RGD:14398483|PMID:21334929 20190419 RGD DNA:amplication:oral epithelium 708419 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605645 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708419 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:630 genetic disease ISO RGD:1605645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708419 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605645 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 708419 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605645 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708420 Plcl1 phospholipase C-like 1 gene DOID:630 genetic disease ISO RGD:733121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708420 Plcl1 phospholipase C-like 1 gene DOID:9001586 Experimental Liver Neoplasms disease_progression IEP D RGD:2315050|PMID:19533683 20220706 RGD mRNA:increased expression:liver (rat) 708420 Plcl1 phospholipase C-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733121 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1606655 D RGD:14398487|PMID:19787213 20190422 RGD mRNA:decreased expression:tongue: 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:1474 aggressive periodontitis ISO RGD:1606655 D RGD:14398489|PMID:20383335 20190422 RGD mRNA:increased expression:saliva 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1606655 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:3388 periodontal disease ISO RGD:1606655 D RGD:14398485|PMID:25887438 20190419 RGD mRNA:increased expressin:gingiva 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:3393 coronary artery disease ISO RGD:1606655 D RGD:14398490|PMID:27461004 20190422 RGD DNA:SNP: :rs12732361(human), associated with male. 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:3526 cerebral infarction ISO RGD:1606655 D RGD:14398486|PMID:26717922 20190419 RGD associated with diabetes mellitus;mRNA:protein:increased expression:blood mononuclear cell: 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1606655 D RGD:14398488|PMID:18430236 20190422 RGD DNA:SNPs:3' end: 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:630 genetic disease ISO RGD:1606655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:8577 ulcerative colitis ISO RGD:1606655 D RGD:14398484|PMID:25171508 20190419 RGD mRNA,protein:decreased expression:intestine 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:1606655 D RGD:14398485|PMID:25887438 20190419 RGD DNA:SNP: :rs1935881(human) 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:9003969 Peri-Implantitis susceptibility ISO RGD:1606655 D RGD:14398485|PMID:25887438 20190419 RGD DNA:SNP: :rs1935881(human) 708421 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606655 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0050700 cardiomyopathy onset ISO RGD:1551416 D RGD:7800701|PMID:23316298 20140116 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0060260 ptosis ISO RGD:1344166 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ptosis PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:33546218|PMID:9490303|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:25741868 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344166 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17167772|PMID:17188070|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18195150|PMID:18204809|PMID:18222991|PMID:18496845|PMID:19029523|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21112924|PMID:21636302|PMID:21646330|PMID:21745197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23401657|PMID:23916084|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25564500|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:26867657|PMID:27290639|PMID:27858935|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28848318|PMID:28926202|PMID:28981474|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19900585|PMID:23409176 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7800699|PMID:16617242 20140116 RGD DNA:SNPs, deletions:exons:multiple 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7800704|PMID:17306754 20140116 RGD DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7800706|PMID:19112530 20140116 RGD DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7800708|PMID:16513463 20140116 RGD DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7800709|PMID:20546606 20140116 RGD DNA:duplication:exons, introns:g.194832822_194840568dup (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7800715|PMID:23401657 20140116 RGD DNA:mutations:multiple 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11735024|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:12842213|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:15948788|PMID:16158427|PMID:16199547|PMID:16240368|PMID:16513463|PMID:16617242|PMID:16785854|PMID:17167772|PMID:17188070|PMID:17251483|PMID:17576681|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18222991|PMID:18360822|PMID:18496845|PMID:19029523|PMID:19319978|PMID:19581274|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21203403|PMID:21538838|PMID:21636302|PMID:21646330|PMID:21745197|PMID:21828197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23384603|PMID:23387428|PMID:23401657|PMID:23916084|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25137924|PMID:25146915|PMID:25146916|PMID:25205859|PMID:25326637|PMID:25564500|PMID:25641387|PMID:25699009|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26467025|PMID:26624494|PMID:26867657|PMID:27290639|PMID:27656661|PMID:27858935|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28926202|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31500643|PMID:31589614|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32025183|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:32855858|PMID:33084218|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9536098|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1551416 D RGD:7800686|PMID:17428816 20140115 RGD DNA:nonsense mutation:exon:p.Q285X (mouse) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1551416 D RGD:7800716|PMID:17314202 20140116 RGD DNA:splice-site mutation:intron:c.1065+5G>A (mouse) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17576681|PMID:17722006|PMID:18222991|PMID:18496845|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25641387|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26467025|PMID:27290639|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33546218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:9490303|PMID:9536098|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:10652 Alzheimer's disease ISO RGD:1344166 D RGD:7800727|PMID:19605646 20140116 RGD protein:decreased expression:brain 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma ISO RGD:1344166 D RGD:7800718|PMID:21552501 20140116 RGD mRNA:decreased expression:blood, leukocyte 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:7800685|PMID:17188046 20140115 RGD DNA:polymorphism:intron:IVS8+4C>T (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:7800713|PMID:16785854 20140116 RGD DNA:SNPs:exons, introns:multiple 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:7800721|PMID:18079692 20140116 RGD DNA:SNPs: :rs166850, rs10451941 (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:10763 hypertension IEP D RGD:7800726|PMID:24388463 20170824 RGD protein:increased expression:heart left ventricle (rat) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:11476 osteoporosis ISO RGD:1344166 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:1686 glaucoma treatment ISO RGD:1551416 D RGD:7800698|PMID:18936150 20140116 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:1686 glaucoma treatment ISO RGD:1551416 D RGD:7800720|PMID:20664796 20140116 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia ISO RGD:1551416 D RGD:7800722|PMID:22345048 20140116 RGD protein:altered expression:brain 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia treatment IDA D RGD:13208946|PMID:24633199 20170824 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:4483 rhinitis IEP D RGD:13204839|PMID:28146064 20170721 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:5419 schizophrenia ISO RGD:1344166 D RGD:13204843|PMID:21397211 20170721 RGD protein:decreased expression: prefrontal cortex (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:5419 schizophrenia ISO RGD:1344166 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:5723 optic atrophy ISO RGD:1344166 D RGD:7800714|PMID:16735988 20140116 RGD DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:5723 optic atrophy ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11440988|PMID:12036970|PMID:19112530|PMID:20157015|PMID:20952381|PMID:25012220|PMID:25741868|PMID:28492532|PMID:34242285 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:5723 optic atrophy ISS RGD:1551416 D RGD:13592920 20180518 MouseDO OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:5844 myocardial infarction treatment IEP D RGD:12738232|PMID:20886221 20170131 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure IEP D RGD:7800717|PMID:19493956 20140116 RGD protein:decreased expression:heart 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:630 genetic disease ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11440988|PMID:11440989|PMID:14961560|PMID:16158427|PMID:17576681|PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20952381|PMID:21636302|PMID:23384603|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33084218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:9536098 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:700 mitochondrial metabolism disease ISO RGD:1344166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17722006|PMID:18065439|PMID:18158317|PMID:18222991|PMID:19029523|PMID:19319978|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22382025|PMID:22433900|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28378518|PMID:28492532|PMID:28812649|PMID:28926202|PMID:30293569|PMID:31609081|PMID:31673222|PMID:33546218|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:784 chronic kidney disease treatment IEP D RGD:12738369|PMID:27801955 20170201 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:8398 osteoarthritis ISO RGD:1344166 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:8501 fundus dystrophy ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17251483|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25205859|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32025183|PMID:32855858|PMID:33546218|PMID:33884488|PMID:34242285|PMID:9490303|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:7800685|PMID:17188046 20140115 RGD DNA:polymorphism:intron:IVS8+32T>C (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:7800687|PMID:12073024 20140115 RGD DNA:SNPs, haplotype:intron:IVS8+4C>T, IVS8+32T>C (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:7800710|PMID:11810296 20140116 RGD DNA:polymorphism:intron:IVS8+4C>T (human) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:7800712|PMID:19969356 20140116 RGD DNA:splice-site mutations, deletion, missense mutation:introns, exon:multiple 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:33546218|PMID:9490303|PMID:9917792 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma susceptibility ISO RGD:1344166 D RGD:7240710 20230517 OMIM 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9001725 Retina Reperfusion Injury IEP D RGD:13208943|PMID:19122832 20170824 RGD protein:increased expression:retina, cytosol (rat) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly IEP D RGD:7800726|PMID:24388463 20140116 RGD associated with Hypertension 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:1551416 D RGD:7800697|PMID:22406748 20140116 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly treatment ISO RGD:1551416 D RGD:12910714|PMID:28503736 20170621 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344166 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9004610 Acute Lung Injury IEP D RGD:12437080|PMID:25560372 20170718 RGD mRNA, protein:altered expression:lung (rat) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:21636302|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9004991 Holoprosencephaly 12 ISO RGD:1344166 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9005532 Muscle Weakness ISO RGD:1344166 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19303950|PMID:20157015|PMID:22857269|PMID:25741868|PMID:26467025|PMID:27890673|PMID:28492532 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9007102 Myocardial Ischemia treatment IEP D RGD:12910831|PMID:27491814 20170626 RGD 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9007174 Ventricular Remodeling ISO RGD:1344166 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9007588 Heart Injuries IEP D RGD:12437078|PMID:25677476 20170718 RGD mRNA, protein:increased expression:heart (rat) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9008824 Sarcopenia IEP D RGD:12738219|PMID:23220115 20170130 RGD protein:increased expression:extensor digitorum longus (rat) 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9282 ocular hypertension IEP D RGD:7800684|PMID:21220562 20140115 RGD mRNA, protein:increased expression:retina 708423 Opa1 OPA1, mitochondrial dynamin like GTPase gene DOID:9452 fatty liver disease IEP D RGD:12453042|PMID:24663492 20170830 RGD protein:increased expression:liver (rat) 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:0050855 renal fibrosis ISO RGD:1553522 D RGD:7245951|PMID:22342673 20130614 RGD mRNA:increased expression:kidney cortex: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:0060180 colitis IEP D RGD:7245473|PMID:23307618 20130605 RGD mRNA:increased expression:kidney: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1352552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:10763 hypertension IEP D RGD:7245484|PMID:23085980 20130606 RGD protein:increased expression:urine 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:10825 essential hypertension ISO RGD:1352552 D RGD:7245500|PMID:22923545 20130606 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:11111 hydronephrosis ISO RGD:1352552 D RGD:7245985|PMID:21279810 20130618 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352552 D RGD:7245970|PMID:12081583 20130617 RGD protein:increased expression:kidney tubule, urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1352552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:1591 renovascular hypertension ISO RGD:1352552 D RGD:7245500|PMID:22923545 20130606 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:1920 hyperuricemia ISO RGD:1352552 D RGD:7244371|PMID:23673972 20130604 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1352552 D RGD:5128853|PMID:15153541 20110321 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2527 nephrosis IEP D RGD:7246891|PMID:17213874 20130620 RGD mRNA,protein:increased expression:kidney: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2841 asthma ISO RGD:1352552 D RGD:5128851|PMID:20628202 20110321 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:7245479|PMID:23135864 20130606 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:7245983|PMID:21467131 20130618 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure IEP D RGD:7244370|PMID:23683031 20130604 RGD protein:increased expression:urine 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:21259293|PMID:21835770|PMID:22005293|PMID:23052191|PMID:23845967|PMID:24189134|PMID:24361871|PMID:24958931|PMID:28885000 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:7245472|PMID:23319831 20130605 RGD associated with Pyelonephritis;protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1553522 D RGD:7245495|PMID:23019274 20130606 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352552 D RGD:5128852|PMID:16159638 20110321 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1352552 D RGD:7245470|PMID:23352434 20130605 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:1553522 D RGD:7245953|PMID:22257277 20130617 RGD mRNA:increased expression:kidney tubule: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease ISO RGD:1352552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:21888673|PMID:23019274|PMID:24863737|PMID:24880025 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease disease_progression ISO RGD:1352552 D RGD:7244373|PMID:23547217 20130604 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria IEP D RGD:7245980|PMID:16467126 20130618 RGD mRNA,protein:increased expression:kidney,urine 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:1352552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:630 genetic disease ISO RGD:1352552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352552 D RGD:153344586|PMID:35693827 20220829 RGD mRNA:increased expression:liver (human) 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease IEP D RGD:7245952|PMID:22269876 20130614 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease ISO RGD:1352552 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:33052911 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1553522 D RGD:7245969|PMID:12388382 20130617 RGD protein:increased expression:kidney: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9000884 Rhabdomyolysis IEP D RGD:7245499|PMID:22937747 20130606 RGD protein:increased expression:urine 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9001542 Albuminuria ISO RGD:1352552 D RGD:7245982|PMID:21630304 20130618 RGD associated with Anemia, Sickle Cell;protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies IEP D RGD:7245497|PMID:22997966 20130606 RGD protein:increased expression:plasma 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352552 D RGD:7245960|PMID:22015481 20130617 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1352552 D RGD:7246890|PMID:20980978 20130620 RGD associated with Diabetes mellitus, Type 1; 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1352552 D RGD:7244382|PMID:23435265 20130604 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1352552 D RGD:7245480|PMID:23131280 20130606 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9004912 Hyperoxaluria IEP D RGD:7245498|PMID:22984472 20130606 RGD mRNA,protein:increased expression:kidney, urine 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9005666 Contrast-Induced Nephropathy IEP D RGD:7245471|PMID:23335628 20130605 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9005749 Necrosis ISO RGD:1352552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:7244372|PMID:23552495 20130604 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1352552 D RGD:7245489|PMID:23085062 20130606 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1553522 D RGD:7245495|PMID:23019274 20130606 RGD protein:increased expression:urine: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352552 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:15805072|PMID:24361871|PMID:28885000 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome IEP D RGD:7245950|PMID:22367506 20130614 RGD protein:increased expression:kidney tubule: 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome susceptibility ISO RGD:1352552 D RGD:7245477|PMID:23220287 20130606 RGD 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352552 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1352552 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:14534576|PMID:21339644 708425 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:1352552 D RGD:7245478|PMID:23200959 20130606 RGD 708427 Cyp2d1 cytochrome P450, family 2, subfamily d, polypeptide 1 gene DOID:1596 depressive disorder IEP D RGD:4892242|PMID:20595028 20120322 RGD 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0060041 autism spectrum disorder ISO RGD:1352888 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352888 D RGD:10053629|PMID:16735089 20150716 RGD protein:increased expression:myoepithelial cells: 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352888 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0070004 myeloid neoplasm ISO RGD:733290 D RGD:11552589|PMID:1665987 20161011 RGD 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0080600 COVID-19 ISO RGD:1352888 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1352888 D RGD:11541128|PMID:26116659 20161010 RGD 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1352888 D RGD:10053626|PMID:23196782 20150716 RGD mRNA,protein:increased expression:epithelial cell: 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25555457 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:10283 prostate cancer ISO RGD:1352888 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1352888 D RGD:10053627|PMID:24571686 20150716 RGD protein:increased expression:epithelium: 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:10591 pre-eclampsia ISO RGD:1352888 D RGD:10053633|PMID:19681734 20150716 RGD mRNA:decreased expression:blood: 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:10591 pre-eclampsia treatment IEP D RGD:11541124|PMID:25876805 20161010 RGD 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:11612 polycystic ovary syndrome IEP D RGD:11541125|PMID:8402388 20161010 RGD 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16263811|PMID:21262361|PMID:22381227 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:1240 leukemia ISO RGD:1352888 D RGD:11541126|PMID:18339682 20161010 RGD DNA:SNP:intron:rs10508293 (human) 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:1923 disorder of sexual development ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:289 endometriosis ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21232532|PMID:25446850 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:5419 schizophrenia ISO RGD:1352888 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:5603 T-cell acute lymphoblastic leukemia treatment ISO RGD:1352888 D RGD:11541128|PMID:26116659 20161010 RGD 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:630 genetic disease ISO RGD:1352888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17507624|PMID:18306354 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19696165 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16338060 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9008046 Neoplasms, Hormone-Dependent ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25304492 708428 Akr1c3 aldo-keto reductase family 1, member C3 gene DOID:9970 obesity ISO RGD:1352888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 708429 Golgb1 golgin B1 gene DOID:12712 nephronophthisis ISO RGD:1351894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:20881296|PMID:28492532 708429 Golgb1 golgin B1 gene DOID:2256 osteochondrodysplasia IAGP D RGD:40902994|PMID:21851869 20210121 RGD DNA:frameshift mutation:exon 13: (rat) 708429 Golgb1 golgin B1 gene DOID:630 genetic disease ISO RGD:1351894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708429 Golgb1 golgin B1 gene DOID:674 cleft palate ISS RGD:1557666 D RGD:13592920 20180518 MouseDO 708429 Golgb1 golgin B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351894 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 708429 Golgb1 golgin B1 gene DOID:9270 alkaptonuria ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1602218 D RGD:18337270|PMID:30205384 20200117 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602218 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1602218 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer ISO RGD:1602218 D RGD:18337280|PMID:25003983 20200121 RGD mRNA, protein:decreased expression:prostate gland 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602218 D RGD:18337271|PMID:31762801 20200117 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:10844 Japanese encephalitis ISO RGD:1614375 D RGD:18337278|PMID:17010311 20200120 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:11260 rabies ISO RGD:1614375 D RGD:18337278|PMID:17010311 20200120 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:1574 alcohol use disorder ISO RGD:1614375 D RGD:18337277|PMID:28714806 20200120 RGD mRNA:increased expression:prefrontal cortex 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1602218 D RGD:18337279|PMID:26175272 20200120 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1602218 D RGD:18337280|PMID:25003983 20200121 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1602218 D RGD:18337285|PMID:23569218 20200121 RGD mRNA:increased expression:thyroid gland 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:1602218 D RGD:18337281|PMID:26910918 20200121 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1602218 D RGD:18337283|PMID:23651211 20200121 RGD 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 708430 Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1602218 D RGD:15097511|PMID:22020760 20200106 RGD associated with colon cancer 708432 Trib3 tribbles pseudokinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345491 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 708432 Trib3 tribbles pseudokinase 3 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1345491 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 708432 Trib3 tribbles pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1345491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708432 Trib3 tribbles pseudokinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708432 Trib3 tribbles pseudokinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345491 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708432 Trib3 tribbles pseudokinase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18497449 708432 Trib3 tribbles pseudokinase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1345491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20461355 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:0060857 septooptic dysplasia ISO RGD:733697 D RGD:12801420|PMID:27935818 20170329 RGD 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:7240710 20140911 OMIM 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:16199547|PMID:17576681|PMID:20301702|PMID:21802063|PMID:25741868|PMID:26529631|PMID:26728615|PMID:28492532|PMID:31502381|PMID:9536098 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345886 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345886 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:10907 microcephaly ISO RGD:1345886 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:12270 coloboma ISO RGD:1345886 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1345886 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder PMID:20301702|PMID:26728615|PMID:28492532 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:5419 schizophrenia ISO RGD:1345886 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1345886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1345886 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:26529631 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345886 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:9007284 Precocious Puberty ISO RGD:1345886 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:9007661 Dwarfism ISO RGD:1345886 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 708433 Cdon cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345886 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 708434 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348765 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 708434 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 708434 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:12849 autistic disorder ISO RGD:1348765 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708434 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:630 genetic disease ISO RGD:1348765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708434 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348765 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 708434 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348765 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:2340 craniosynostosis ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1347882 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1347882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 708435 Ceacam4 CEA cell adhesion molecule 4 gene DOID:9269 maple syrup urine disease ISO RGD:1347882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 708436 Skap1 src kinase associated phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708436 Skap1 src kinase associated phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 708438 Gpr156 G protein-coupled receptor 156 gene DOID:630 genetic disease ISO RGD:736790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708439 Srcin1 SRC kinase signaling inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708439 Srcin1 SRC kinase signaling inhibitor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1606779 D RGD:11554173 20180220 CTD CTD Direct Evidence: therapeutic PMID:27506785 708441 Lipf lipase F, gastric type gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1343616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 708441 Lipf lipase F, gastric type gene DOID:630 genetic disease ISO RGD:1343616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708443 Prokr1 prokineticin receptor 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733659 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 708443 Prokr1 prokineticin receptor 1 gene DOID:2843 long QT syndrome ISO RGD:733659 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 708443 Prokr1 prokineticin receptor 1 gene DOID:630 genetic disease ISO RGD:733659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 708443 Prokr1 prokineticin receptor 1 gene DOID:9000641 Pain ISO RGD:733659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 708443 Prokr1 prokineticin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733659 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 708444 Klhl17 kelch-like family member 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708444 Klhl17 kelch-like family member 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 708444 Klhl17 kelch-like family member 17 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708444 Klhl17 kelch-like family member 17 gene DOID:0111934 immunodeficiency 38 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708444 Klhl17 kelch-like family member 17 gene DOID:0111935 immunodeficiency 16 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708444 Klhl17 kelch-like family member 17 gene DOID:630 genetic disease ISO RGD:1348319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708444 Klhl17 kelch-like family member 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348319 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708444 Klhl17 kelch-like family member 17 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708444 Klhl17 kelch-like family member 17 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1348319 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 708445 Prokr2 prokineticin receptor 2 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:18559922|PMID:24830383|PMID:25636053|PMID:25741868|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:31781422|PMID:33587123 708445 Prokr2 prokineticin receptor 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 708445 Prokr2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:7240710 20190102 OMIM 708445 Prokr2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia PMID:11259612|PMID:16537498|PMID:17054399|PMID:1855992|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:18985070|PMID:20022991|PMID:20502053|PMID:20696889|PMID:20981092|PMID:21209029|PMID:21247312|PMID:21858136|PMID:22035731|PMID:22319038|PMID:22399515|PMID:22466334|PMID:22745195|PMID:22773735|PMID:22927827|PMID:22995991|PMID:23082007|PMID:23200691|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:2403109|PMID:24031091|PMID:24204987|PMID:24276467|PMID:24753254|PMID:24830383|PMID:25531638|PMID:25636053|PMID:25678757|PMID:25741868|PMID:25759380|PMID:26031747|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:30311386|PMID:30430143|PMID:30576231|PMID:30773290|PMID:31093944|PMID:31781422|PMID:32763379|PMID:32870266|PMID:33227799|PMID:33587123|PMID:4276467|PMID:8954047 708445 Prokr2 prokineticin receptor 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 708445 Prokr2 prokineticin receptor 2 gene DOID:13938 amenorrhea ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:30773290|PMID:31093944|PMID:32870266 708445 Prokr2 prokineticin receptor 2 gene DOID:1826 epilepsy ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17054399|PMID:18826963|PMID:20022991|PMID:21247312|PMID:21858136|PMID:22319038|PMID:22399515|PMID:22745195|PMID:23386640|PMID:23596439|PMID:24830383|PMID:25759380|PMID:28492532|PMID:29161432 708445 Prokr2 prokineticin receptor 2 gene DOID:3614 Kallmann syndrome ISO RGD:1353227 D RGD:11554173 20190108 CTD CTD Direct Evidence: marker/mechanism 708445 Prokr2 prokineticin receptor 2 gene DOID:3614 Kallmann syndrome ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:31093944|PMID:32870266 708445 Prokr2 prokineticin receptor 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 708445 Prokr2 prokineticin receptor 2 gene DOID:5223 infertility ISO RGD:1353227 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infertility PMID:16537498|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21209029|PMID:21247312|PMID:22035731|PMID:22466334|PMID:22773735|PMID:23386640|PMID:23643382|PMID:24031091|PMID:24276467|PMID:24830383|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161432 708445 Prokr2 prokineticin receptor 2 gene DOID:630 genetic disease ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 708445 Prokr2 prokineticin receptor 2 gene DOID:670 amphetamine abuse ISO RGD:1353227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20576534 708445 Prokr2 prokineticin receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353227 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:0060180 colitis IMP D RGD:2307162|PMID:16399111 20090520 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:732280 D RGD:5688164|PMID:15153561 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:0080599 Coronavirus infectious disease ISS RGD:732280 D RGD:13592920 20200730 MouseDO 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1349625 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:732280 D RGD:5688177|PMID:17641205 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:732280 D RGD:5688157|PMID:15716328 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:10533 viral pneumonia ISO RGD:732280 D RGD:5688163|PMID:15254170 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1349625 D RGD:5688166|PMID:14595653 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:1205 allergic disease ISO RGD:1349625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:12217 Lewy body dementia ISO RGD:1349625 D RGD:5688166|PMID:14595653 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:732280 D RGD:5688155|PMID:15951834 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1349625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:1407 anterior uveitis IEP D RGD:5688173|PMID:11687534 20120220 RGD associated with Encephalomyelitis, Autoimmune, Experimental 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:2773 contact dermatitis ISO RGD:1349625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:732280 D RGD:5688158|PMID:15654816 20120220 RGD mRNA:increased expression:lung 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:2841 asthma severity ISO RGD:732280 D RGD:5688159|PMID:15593301 20120220 RGD associated with Respiratory Syncytial Virus Infections 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732280 D RGD:30309221|PMID:15356152 20200619 RGD mRNA:increased expression:lung (mouse) 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1349625 D RGD:5688176|PMID:18844696 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:3393 coronary artery disease ISO RGD:1349625 D RGD:5508477|PMID:12742282 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:409 liver disease ISO RGD:1349625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:1349625 D RGD:5688143|PMID:19280268 20120217 RGD associated with Fatty Liver 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:5434 scrapie ISO RGD:732280 D RGD:5688145|PMID:18396336 20120217 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:552 pneumonia ISO RGD:1349625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:552 pneumonia ISO RGD:732280 D RGD:5688175|PMID:20870892 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1349625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:646 viral encephalitis ISO RGD:732280 D RGD:5688146|PMID:18158733 20120217 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349625 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16284949 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349625 D RGD:5688170|PMID:12860725 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:783 end stage renal disease ISO RGD:732280 D RGD:7241817|PMID:22916017 20130315 RGD associated with Candidiasis, Invasive; 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:824 periodontitis ISO RGD:732280 D RGD:5688142|PMID:20053385 20120217 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5688138|PMID:21332278 20120217 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9000722 Animal Hepatitis ISO RGD:732280 D RGD:5688161|PMID:15368307 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis IEP D RGD:1582346|PMID:14674010 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732280 D RGD:5688144|PMID:18608173 20120217 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1349625 D RGD:5688154|PMID:16493073 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:5688165|PMID:14655765 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IMP D RGD:5688167|PMID:14512166 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1349625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732280 D RGD:5688141|PMID:20410256 20120217 RGD mRNA:increased expression:kidney 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:732280 D RGD:5688151|PMID:17312463 20120220 RGD associated with Pancreatitis 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:732280 D RGD:5688150|PMID:18088392 20120220 RGD associated with Myocardial Infarction 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:732280 D RGD:5688152|PMID:17234893 20120220 RGD associated with Sepsis 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9005930 Endotoxemia ISO RGD:732280 D RGD:5688178|PMID:17016504 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:732280 D RGD:5688140|PMID:20500551 20120217 RGD protein:increased expression:sciatic nerve, macrophage, T cell 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9007156 Enteritis ISO RGD:732280 D RGD:5688172|PMID:11875005 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:732280 D RGD:5688168|PMID:12874303 20120220 RGD 708446 Ccr1 C-C motif chemokine receptor 1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1349625 D RGD:5688166|PMID:14595653 20120220 RGD 708448 Phax phosphorylated adaptor for RNA export gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1346002 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 708448 Phax phosphorylated adaptor for RNA export gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708448 Phax phosphorylated adaptor for RNA export gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1346002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy 708448 Phax phosphorylated adaptor for RNA export gene DOID:10487 Hirschsprung's disease ISO RGD:1346002 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 708448 Phax phosphorylated adaptor for RNA export gene DOID:630 genetic disease ISO RGD:1346002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708448 Phax phosphorylated adaptor for RNA export gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346002 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708448 Phax phosphorylated adaptor for RNA export gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708449 Tox4 TOX high mobility group box family member 4 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1350277 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 708449 Tox4 TOX high mobility group box family member 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1350277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 708449 Tox4 TOX high mobility group box family member 4 gene DOID:630 genetic disease ISO RGD:1350277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708449 Tox4 TOX high mobility group box family member 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 708450 Adcy10 adenylate cyclase 10 gene DOID:0111942 immunodeficiency 25 ISO RGD:737484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 708450 Adcy10 adenylate cyclase 10 gene DOID:12336 male infertility ISO RGD:737484 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Male infertility 708450 Adcy10 adenylate cyclase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:737484 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708450 Adcy10 adenylate cyclase 10 gene DOID:630 genetic disease ISO RGD:737484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708450 Adcy10 adenylate cyclase 10 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:737485 D RGD:329337358|PMID:29466442 20230428 RGD 708450 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 708450 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 708450 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 susceptibility ISO RGD:737484 D RGD:7240710 20190502 OMIM 708450 Adcy10 adenylate cyclase 10 gene DOID:9008091 Optic Nerve Injuries IEP D RGD:329347828|PMID:22649251 20230503 RGD protein:decreased expression:retina 708450 Adcy10 adenylate cyclase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737484 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0050569 Seckel syndrome ISO RGD:1347674 D RGD:13450906|PMID:26436113 20171108 RGD DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:11057920|PMID:23587236 20171108 RGD DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human) 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:13450905|PMID:17764569 20171108 RGD DNA:nonsense mutation:exon:243T>A(p.S81X)(human) 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:7240710 20141015 OMIM 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive PMID:10677332|PMID:15793586|PMID:17764569|PMID:18414213|PMID:20301772|PMID:20460369|PMID:22887808|PMID:23726037|PMID:23995685|PMID:25326637|PMID:25741868|PMID:26436113|PMID:27391121|PMID:27761245|PMID:28004182|PMID:28492532|PMID:30392784|PMID:31316545 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1347674 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:10907 microcephaly ISO RGD:1347674 D RGD:13450906|PMID:26436113 20171108 RGD DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:10907 microcephaly ISO RGD:1347674 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:20301772|PMID:25741868|PMID:28492532|PMID:32581362 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:10907 microcephaly ISS RGD:1552560 D RGD:13592920 20180518 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:12270 coloboma ISO RGD:1347674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:28492532 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:630 genetic disease ISO RGD:1347674 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15793586|PMID:17576681|PMID:18414213|PMID:25741868|PMID:27761245|PMID:28492532|PMID:30392784|PMID:9536098 708451 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352175 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352175 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1352175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1352175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:863 nervous system disease ISO RGD:1352175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 708452 Arfgap1 ADP-ribosylation factor GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352175 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350323 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:7240710 20190315 OMIM 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE PMID:25223753|PMID:25644381|PMID:25741868|PMID:28098945|PMID:28492532 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:1059 intellectual disability ISO RGD:1350323 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:12849 autistic disorder ISO RGD:1350323 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:630 genetic disease ISO RGD:1350323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350323 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708454 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350323 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 708455 Taok1 TAO kinase 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1351422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 708455 Taok1 TAO kinase 1 gene DOID:630 genetic disease ISO RGD:1351422 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31230721|PMID:33565190|PMID:7768349 708455 Taok1 TAO kinase 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1351422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 708455 Taok1 TAO kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351422 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31230721 708455 Taok1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:7240710 20211215 OMIM 708455 Taok1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities PMID:25741868|PMID:31230721|PMID:33565190|PMID:7768349 708455 Taok1 TAO kinase 1 gene DOID:9007817 Macroglossia ISO RGD:1351422 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 708455 Taok1 TAO kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33565190 708455 Taok1 TAO kinase 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1351422 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:13938 amenorrhea ISO RGD:1351797 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression IDA D RGD:13463483|PMID:23050879 20171218 RGD 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:1351797 D RGD:13463483|PMID:23050879 20171218 RGD 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma severity ISO RGD:1351797 D RGD:13463483|PMID:23050879 20171218 RGD protein:increased expression:cytoplasm,white matter: 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:630 genetic disease ISO RGD:1351797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351797 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:33838155 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:7240710 20130731 OMIM 708456 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 708457 Insig1 insulin induced gene 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1347615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 708457 Insig1 insulin induced gene 1 gene DOID:12849 autistic disorder ISO RGD:1347615 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708457 Insig1 insulin induced gene 1 gene DOID:305 carcinoma ISO RGD:1347615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 708457 Insig1 insulin induced gene 1 gene DOID:630 genetic disease ISO RGD:1347615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708457 Insig1 insulin induced gene 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 708457 Insig1 insulin induced gene 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347615 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 708457 Insig1 insulin induced gene 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332305 D RGD:2308858|PMID:16327801 20090611 RGD 708457 Insig1 insulin induced gene 1 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:1332305 D RGD:2308857|PMID:15096598 20090611 RGD associated with Obesity 708457 Insig1 insulin induced gene 1 gene DOID:9452 fatty liver disease IEP D RGD:2308857|PMID:15096598 20090611 RGD associated with Obesity;mRNA:increased expression:liver 708457 Insig1 insulin induced gene 1 gene DOID:9452 fatty liver disease severity ISO RGD:1332305 D RGD:2308857|PMID:15096598 20090611 RGD associated with Obesity 708458 Jmjd1c jumonji domain containing 1C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 708458 Jmjd1c jumonji domain containing 1C gene DOID:0060041 autism spectrum disorder ISO RGD:1320591 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 708458 Jmjd1c jumonji domain containing 1C gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy PMID:25741868|PMID:28492532 708458 Jmjd1c jumonji domain containing 1C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 708458 Jmjd1c jumonji domain containing 1C gene DOID:12849 autistic disorder ISO RGD:1320591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 708458 Jmjd1c jumonji domain containing 1C gene DOID:308 early myoclonic encephalopathy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:22495311|PMID:25741868|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31954878|PMID:9536098 708458 Jmjd1c jumonji domain containing 1C gene DOID:630 genetic disease ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708458 Jmjd1c jumonji domain containing 1C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 708458 Jmjd1c jumonji domain containing 1C gene DOID:687 hepatoblastoma ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 708458 Jmjd1c jumonji domain containing 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: JMJD1C-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: JMJD1C-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26181491|PMID:28492532|PMID:31954878 708458 Jmjd1c jumonji domain containing 1C gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1320591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:25741868|PMID:31954878 708459 Scgb1d2 secretoglobin, family 1D, member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 708459 Scgb1d2 secretoglobin, family 1D, member 2 gene DOID:1059 intellectual disability ISO RGD:1345787 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708459 Scgb1d2 secretoglobin, family 1D, member 2 gene DOID:630 genetic disease ISO RGD:1345787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708460 Ppp6c protein phosphatase 6, catalytic subunit gene DOID:1909 melanoma ISO RGD:734407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 708460 Ppp6c protein phosphatase 6, catalytic subunit gene DOID:2513 basal cell carcinoma ISO RGD:734407 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 708460 Ppp6c protein phosphatase 6, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734407 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 708460 Ppp6c protein phosphatase 6, catalytic subunit gene DOID:630 genetic disease ISO RGD:734407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708460 Ppp6c protein phosphatase 6, catalytic subunit gene DOID:8923 skin melanoma ISO RGD:734407 D RGD:8554872 20200114 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 708461 Plbd2 phospholipase B domain containing 2 gene DOID:630 genetic disease ISO RGD:1606689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708462 Nifk nucleolar protein interacting with the FHA domain of MKI67 gene DOID:630 genetic disease ISO RGD:1345364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708463 Prf1 perforin 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1553597 D RGD:6482810|PMID:20049711 20120503 RGD associated with Lymphocytic Choriomeningitis 708463 Prf1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:7240710 20130717 OMIM 708463 Prf1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial PMID:25741868 708463 Prf1 perforin 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1350272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 708463 Prf1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:6482809|PMID:12060139 20120503 RGD DNA:missense mutations, nonsense mutations: :multiple 708463 Prf1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:7240710 20130221 OMIM 708463 Prf1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15205266|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15609274|PMID:15632205|PMID:15659737|PMID:15718147|PMID:15728124|PMID:15755277|PMID:15755897|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17311987|PMID:17328077|PMID:17356398|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18496551|PMID:18710388|PMID:18799942|PMID:18927437|PMID:19487666|PMID:19595804|PMID:19639728|PMID:20015888|PMID:20019066|PMID:20092789|PMID:20197201|PMID:20638125|PMID:21152410|PMID:21157294|PMID:21234777|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23073044|PMID:23073290|PMID:23160464|PMID:23180437|PMID:23255033|PMID:23264592|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24215106|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24744671|PMID:24916509|PMID:25047945|PMID:25215106|PMID:25233452|PMID:25297583|PMID:25326635|PMID:25326637|PMID:25354579|PMID:25577959|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27290639|PMID:27391055|PMID:27535533|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28353193|PMID:28492532|PMID:28750028|PMID:29095814|PMID:29113160|PMID:29152263|PMID:29239076|PMID:29263817|PMID:29357941|PMID:29665027|PMID:30104219|PMID:30539918|PMID:30697212|PMID:30849948|PMID:30899265|PMID:31388699|PMID:31395954|PMID:31664448|PMID:31789783|PMID:32150605|PMID:32356861|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32963807|PMID:33225392|PMID:33365035|PMID:33658321|PMID:33746956|PMID:33869605|PMID:34170459|PMID:34938098|PMID:7851014|PMID:9536098 708463 Prf1 perforin 1 gene DOID:10113 trypanosomiasis ISO RGD:1553597 D RGD:6482814|PMID:19651871 20120504 RGD 708463 Prf1 perforin 1 gene DOID:12365 malaria ISO RGD:1553597 D RGD:6482803|PMID:21525386 20120503 RGD 708463 Prf1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:7240710 20150729 OMIM 708463 Prf1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:10583959|PMID:11179007|PMID:1156555|PMID:11756153|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17266056|PMID:17311987|PMID:17477373|PMID:17525286|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:21674762|PMID:21881043|PMID:21959744|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24744671|PMID:24916509|PMID:25233452|PMID:25741868|PMID:26184781|PMID:26221353|PMID:27033761|PMID:27577878|PMID:27622035|PMID:28492532|PMID:29113160|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30899265|PMID:31395954|PMID:32375849|PMID:33225392|PMID:34170459 708463 Prf1 perforin 1 gene DOID:12849 autistic disorder ISO RGD:1350272 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 708463 Prf1 perforin 1 gene DOID:13636 Fanconi anemia ISO RGD:1350272 D RGD:6482802|PMID:21542827 20120503 RGD 708463 Prf1 perforin 1 gene DOID:1520 colon carcinoma IDA D RGD:6482822|PMID:22420317 20120504 RGD 708463 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:6482817|PMID:22001684 20120504 RGD protein:increased expression:blood, T cell 708463 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:6482820|PMID:20921521 20120504 RGD DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) 708463 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:6482805|PMID:19680139 20120503 RGD 708463 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISS RGD:1553597 D RGD:13592920 20180518 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 708463 Prf1 perforin 1 gene DOID:2841 asthma IDA D RGD:6482818|PMID:21426642 20120504 RGD 708463 Prf1 perforin 1 gene DOID:2841 asthma ISO RGD:1553597 D RGD:6482815|PMID:22250087 20120504 RGD 708463 Prf1 perforin 1 gene DOID:2920 membranoproliferative glomerulonephritis IEP D RGD:1599935|PMID:10886554 20070221 RGD mRNA:increased expression:glomerulus 708463 Prf1 perforin 1 gene DOID:2921 glomerulonephritis IMP D RGD:6482824|PMID:17622272 20120504 RGD 708463 Prf1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26450956|PMID:26684649|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 708463 Prf1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 708463 Prf1 perforin 1 gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1350272 D RGD:1599929|PMID:11179007 20070221 RGD DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 708463 Prf1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:6482808|PMID:20523897 20120503 RGD 708463 Prf1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:6482819|PMID:21157294 20120504 RGD DNA:SNP: :rs885822 (human) 708463 Prf1 perforin 1 gene DOID:630 genetic disease ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583959|PMID:11179007|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12229880|PMID:14757862|PMID:15365097|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:17164654|PMID:17674359|PMID:17873118|PMID:19487666|PMID:20197201|PMID:21234777|PMID:21881043|PMID:21959744|PMID:23073290|PMID:23443029|PMID:23592409|PMID:24916509|PMID:25741868|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26684649|PMID:27271812|PMID:27577878|PMID:28492532|PMID:29263817|PMID:29357941|PMID:32638196|PMID:34938098 708463 Prf1 perforin 1 gene DOID:820 myocarditis ISO RGD:1553597 D RGD:6482790|PMID:21993400 20120502 RGD 708463 Prf1 perforin 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1350272 D RGD:6482801|PMID:21619669 20120503 RGD 708463 Prf1 perforin 1 gene DOID:8729 milker's nodule ISO RGD:1553597 D RGD:6482788|PMID:22396645 20120502 RGD 708463 Prf1 perforin 1 gene DOID:8778 Crohn's disease ISO RGD:1350272 D RGD:6482789|PMID:22021194 20120502 RGD DNA:hypermethylation 708463 Prf1 perforin 1 gene DOID:9000998 Brain Injuries ISO RGD:1350272 D RGD:6482807|PMID:20537642 20120503 RGD 708463 Prf1 perforin 1 gene DOID:9001488 Human Influenza ISO RGD:1350272 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 708463 Prf1 perforin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553597 D RGD:6482806|PMID:20708278 20120503 RGD 708463 Prf1 perforin 1 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1350272 D RGD:6482811|PMID:20019066 20120503 RGD associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) 708463 Prf1 perforin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1553597 D RGD:6482812|PMID:19785028 20120503 RGD associated with Colitis 708463 Prf1 perforin 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1350272 D RGD:40813739|PMID:25148254 20201109 RGD protein:increased expression:peripheral blood mononuclear cell (human) 708463 Prf1 perforin 1 gene DOID:9004146 Flavivirus Infections ISO RGD:1553597 D RGD:6482795|PMID:21908734 20120503 RGD mRNA:increased expression:brain, spleen 708463 Prf1 perforin 1 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1350272 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12716377|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17525286|PMID:17674359|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:19639728|PMID:21234777|PMID:21881043|PMID:21959744|PMID:22186995|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24390453|PMID:24744671|PMID:24916509|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26684649|PMID:27209435|PMID:27271812|PMID:27577878|PMID:27622035|PMID:28492532|PMID:28757574|PMID:29095814|PMID:29152263|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30849948|PMID:31388699|PMID:31395954|PMID:31789783|PMID:32375849|PMID:32638196|PMID:33365035|PMID:33658321|PMID:33746956 708463 Prf1 perforin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1350272 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 708463 Prf1 perforin 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1350272 D RGD:6482798|PMID:21906646 20120503 RGD 708463 Prf1 perforin 1 gene DOID:9744 type 1 diabetes mellitus ISS RGD:1553597 D RGD:13592920 20180518 MouseDO OMIM:222100 708464 Atg3 autophagy related 3 gene DOID:630 genetic disease ISO RGD:1353416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708465 Otos otospiralin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 708465 Otos otospiralin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 708465 Otos otospiralin gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1349689 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 708465 Otos otospiralin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349689 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 708465 Otos otospiralin gene DOID:1059 intellectual disability ISO RGD:1349689 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708465 Otos otospiralin gene DOID:630 genetic disease ISO RGD:1349689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708465 Otos otospiralin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0050436 mulibrey nanism ISO RGD:1353397 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353397 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:1826 epilepsy ISO RGD:1353397 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353397 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1353397 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:25741868 708466 Pnpla7 patatin-like phospholipase domain containing 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708467 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:1540 parathyroid carcinoma ISO RGD:735635 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708467 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:630 genetic disease ISO RGD:735635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708467 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:767 muscular atrophy IEP D RGD:13463487|PMID:20943961 20171219 RGD 708467 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735635 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708469 Slc15a4 solute carrier family 15 member 4 gene DOID:630 genetic disease ISO RGD:733038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708469 Slc15a4 solute carrier family 15 member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:733038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:7240710 20130221 OMIM 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:16199547|PMID:17576681|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25047945|PMID:25741868|PMID:26997947|PMID:28492532|PMID:9536098 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:733977 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:19136951|PMID:25741868|PMID:28492532 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:630 genetic disease ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 708471 Lmbrd1 LMBR1 domain containing 1 gene DOID:655 inherited metabolic disorder ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 708472 Asmt acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17505466 708472 Asmt acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708472 Asmt acetylserotonin O-methyltransferase gene DOID:893 Wilson disease ISO RGD:1353638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 708473 Tmem158 transmembrane protein 158 gene DOID:630 genetic disease ISO RGD:733049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342708 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:0060476 Perlman syndrome ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:2739 Gilbert syndrome ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31145902|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:6480579|PMID:7715297|PMID:7906695|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31145902|PMID:31737051|PMID:9630669 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:3803 Crigler-Najjar syndrome ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:11013440|PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25822733|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8706880|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9639672 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:630 genetic disease ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11182932|PMID:15712364|PMID:16269258|PMID:18058623|PMID:18414213|PMID:19830808|PMID:22325916|PMID:23290513|PMID:23875061|PMID:25200497|PMID:25741868|PMID:26039129|PMID:26697581|PMID:26716871|PMID:28492532|PMID:31145902|PMID:8514037|PMID:9621515|PMID:9639672 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:10412811|PMID:10472535|PMID:11061796|PMID:11182932|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:12502904|PMID:14550264|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:31737051|PMID:8706880|PMID:9630669|PMID:9784835|PMID:9929972 708474 Ugt1a8 UDP glucuronosyltransferase family 1 member A8 gene DOID:9001862 Crigler Najjar Syndrome, Type 2 ISO RGD:1342708 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:11370628|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:1692835|PMID:17229650|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19390945|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:22169899|PMID:23014115|PMID:23099197|PMID:23290513|PMID:23875061|PMID:24033266|PMID:24033692|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25822733|PMID:25993113|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:30544479|PMID:31467903|PMID:31737051|PMID:6480579|PMID:7715297|PMID:7989595|PMID:805737|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972 708475 Akr1b8 aldo-keto reductase family 1, member B8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3516654 D RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 708475 Akr1b8 aldo-keto reductase family 1, member B8 gene DOID:630 genetic disease ISO RGD:3516654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708476 Slc25a11 solute carrier family 25 member 11 gene DOID:0050941 spastic ataxia 2 ISO RGD:732504 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 708476 Slc25a11 solute carrier family 25 member 11 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732504 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 708476 Slc25a11 solute carrier family 25 member 11 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732504 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 708476 Slc25a11 solute carrier family 25 member 11 gene DOID:630 genetic disease ISO RGD:732504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 708476 Slc25a11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:7240710 20190710 OMIM 708476 Slc25a11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 6 PMID:25741868|PMID:29431636 708477 Stox2 storkhead box 2 gene DOID:630 genetic disease ISO RGD:1601982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708478 Mrgprf MAS related GPR family member F gene DOID:1059 intellectual disability ISO RGD:1346995 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708478 Mrgprf MAS related GPR family member F gene DOID:630 genetic disease ISO RGD:1346995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708478 Mrgprf MAS related GPR family member F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 708478 Mrgprf MAS related GPR family member F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 708479 Ctsz cathepsin Z gene DOID:0080600 COVID-19 ISO RGD:1352898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708479 Ctsz cathepsin Z gene DOID:630 genetic disease ISO RGD:1352898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708479 Ctsz cathepsin Z gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708479 Ctsz cathepsin Z gene DOID:9005968 Neuralgia IEP D RGD:5686878|PMID:18700000 20120130 RGD 708479 Ctsz cathepsin Z gene DOID:9119 acute myeloid leukemia ISO RGD:1352898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 708480 Ddx46 DEAD-box helicase 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708480 Ddx46 DEAD-box helicase 46 gene DOID:12849 autistic disorder ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 708480 Ddx46 DEAD-box helicase 46 gene DOID:630 genetic disease ISO RGD:734266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708480 Ddx46 DEAD-box helicase 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734266 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708480 Ddx46 DEAD-box helicase 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:0050777 Joubert syndrome ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:33131181 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343969 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:10283 prostate cancer ISO RGD:1343969 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:10754 otitis media ISS RGD:1616726 D RGD:13592920 20180518 MouseDO OMIM:166760 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:630 genetic disease ISO RGD:1343969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708481 Cby1 chibby family member 1, beta catenin antagonist gene DOID:9562 primary ciliary dyskinesia ISS RGD:1616726 D RGD:13592920 20180518 MouseDO 708482 Dhrs4 dehydrogenase/reductase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:732149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 708482 Dhrs4 dehydrogenase/reductase 4 gene DOID:0080600 COVID-19 ISO RGD:732149 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708482 Dhrs4 dehydrogenase/reductase 4 gene DOID:630 genetic disease ISO RGD:732149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708482 Dhrs4 dehydrogenase/reductase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:732149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 708482 Dhrs4 dehydrogenase/reductase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:1059 intellectual disability ISO RGD:1344457 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1344457 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:3070 high grade glioma ISO RGD:1344457 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:630 genetic disease ISO RGD:1344457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1344457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 708483 Mark2 microtubule affinity regulating kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 708484 Slc35e4 solute carrier family 35, member E4 gene DOID:630 genetic disease ISO RGD:1602959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708485 Serpina12 serpin family A member 12 gene DOID:0081063 DICER1 syndrome ISO RGD:1348482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 708485 Serpina12 serpin family A member 12 gene DOID:630 genetic disease ISO RGD:1348482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708485 Serpina12 serpin family A member 12 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1348482 D RGD:1547845|PMID:16030142 19990101 RGD human protein in a mouse model 708485 Serpina12 serpin family A member 12 gene DOID:9352 type 2 diabetes mellitus treatment IDA D RGD:1547845|PMID:16030142 19990101 RGD 708485 Serpina12 serpin family A member 12 gene DOID:9970 obesity treatment IDA D RGD:1547845|PMID:16030142 19990101 RGD 708486 Cym chymosin gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606055 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 708486 Cym chymosin gene DOID:1059 intellectual disability ISO RGD:1606055 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Intellectual disability 708486 Cym chymosin gene DOID:630 genetic disease ISO RGD:1606055 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708487 Adap2 ArfGAP with dual PH domains 2 gene DOID:0080600 COVID-19 ISO RGD:734306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708487 Adap2 ArfGAP with dual PH domains 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:734306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 708487 Adap2 ArfGAP with dual PH domains 2 gene DOID:1969 cerebral palsy ISO RGD:734306 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 708487 Adap2 ArfGAP with dual PH domains 2 gene DOID:630 genetic disease ISO RGD:734306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708487 Adap2 ArfGAP with dual PH domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734306 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 708488 Spp2 secreted phosphoprotein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 708488 Spp2 secreted phosphoprotein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 708488 Spp2 secreted phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1344565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708489 Cltrn collectrin, amino acid transport regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354044 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 708489 Cltrn collectrin, amino acid transport regulator gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 708489 Cltrn collectrin, amino acid transport regulator gene DOID:12849 autistic disorder ISO RGD:1354044 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708489 Cltrn collectrin, amino acid transport regulator gene DOID:13636 Fanconi anemia ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 708489 Cltrn collectrin, amino acid transport regulator gene DOID:5199 ureteral obstruction ISO RGD:1354044 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:12887829 708489 Cltrn collectrin, amino acid transport regulator gene DOID:630 genetic disease ISO RGD:1354044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708489 Cltrn collectrin, amino acid transport regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1354044 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 708489 Cltrn collectrin, amino acid transport regulator gene DOID:9002207 Renal Aminoacidurias ISO RGD:1354044 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: Aminoaciduria 708489 Cltrn collectrin, amino acid transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354044 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708490 Ssx2ip SSX family member 2 interacting protein gene DOID:630 genetic disease ISO RGD:736522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708491 Hpcal4 hippocalcin-like 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348718 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 708491 Hpcal4 hippocalcin-like 4 gene DOID:630 genetic disease ISO RGD:1348718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708492 Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606217 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 708492 Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing gene DOID:630 genetic disease ISO RGD:1606217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708492 Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:7240710 20211201 OMIM 708492 Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669|PMID:34545459 708493 Abra actin-binding Rho activating protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1603582 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 708493 Abra actin-binding Rho activating protein gene DOID:630 genetic disease ISO RGD:1603582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708494 Tpcn1 two pore segment channel 1 gene DOID:14228 oligospermia ISO RGD:1344084 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24451262 708494 Tpcn1 two pore segment channel 1 gene DOID:630 genetic disease ISO RGD:1344084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348830 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080205 CAKUT ISS RGD:1552833 D RGD:13592920 20220714 MouseDO 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080545 hyper IgE syndrome ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:33290277 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:33290277 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080600 COVID-19 ISO RGD:1348830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:5419 schizophrenia ISO RGD:1348830 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708495 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:630 genetic disease ISO RGD:1348830 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708496 Prpf19 pre-mRNA processing factor 19 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 708496 Prpf19 pre-mRNA processing factor 19 gene DOID:1059 intellectual disability ISO RGD:1353674 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708496 Prpf19 pre-mRNA processing factor 19 gene DOID:630 genetic disease ISO RGD:1353674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708496 Prpf19 pre-mRNA processing factor 19 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 708496 Prpf19 pre-mRNA processing factor 19 gene DOID:9000918 Disease Progression ISO RGD:1353674 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 708496 Prpf19 pre-mRNA processing factor 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 708497 Sipa1l1 signal-induced proliferation-associated 1 like 1 gene DOID:630 genetic disease ISO RGD:733053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708497 Sipa1l1 signal-induced proliferation-associated 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 708497 Sipa1l1 signal-induced proliferation-associated 1 like 1 gene DOID:9004657 Weight Gain ISO RGD:733053 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 708497 Sipa1l1 signal-induced proliferation-associated 1 like 1 gene DOID:9775 diastolic heart failure ISO RGD:733053 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 708499 Stx17 syntaxin 17 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 708499 Stx17 syntaxin 17 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 708499 Stx17 syntaxin 17 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 708499 Stx17 syntaxin 17 gene DOID:1059 intellectual disability ISO RGD:1352651 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708499 Stx17 syntaxin 17 gene DOID:12712 nephronophthisis ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 708499 Stx17 syntaxin 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 708499 Stx17 syntaxin 17 gene DOID:1909 melanoma ISO RGD:1352651 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18641652 708499 Stx17 syntaxin 17 gene DOID:630 genetic disease ISO RGD:1352651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708499 Stx17 syntaxin 17 gene DOID:986 alopecia areata ISO RGD:1352651 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 708500 Alg10 ALG10, alpha-1,2-glucosyltransferase gene DOID:0110645 long QT syndrome 2 ISO RGD:1345350 D RGD:8554872 20151215 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:15280551 708500 Alg10 ALG10, alpha-1,2-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1345350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708502 Slc45a1 solute carrier family 45, member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731828 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 708502 Slc45a1 solute carrier family 45, member 1 gene DOID:1826 epilepsy ISO RGD:731828 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 708502 Slc45a1 solute carrier family 45, member 1 gene DOID:630 genetic disease ISO RGD:731828 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 708502 Slc45a1 solute carrier family 45, member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:7240710 20190315 OMIM 708502 Slc45a1 solute carrier family 45, member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with neuropsychiatric features PMID:25741868|PMID:28434495 708502 Slc45a1 solute carrier family 45, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731828 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:0050840 cervical dystonia ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:0050902 medulloblastoma ISO RGD:1316702 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:26822237 708504 Arid1b AT-rich interaction domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1316702 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 708504 Arid1b AT-rich interaction domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1316703 D RGD:13439722|PMID:28867767 20171012 RGD 708504 Arid1b AT-rich interaction domain 1B gene DOID:0060041 autism spectrum disorder ISS RGD:1316703 D RGD:13592920 20180621 MouseDO 708504 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:7240710 20180725 OMIM 708504 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347 708504 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25249037|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347|PMID:33768696 708504 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 708504 Arid1b AT-rich interaction domain 1B gene DOID:0070338 cerebellar hypoplasia ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:10348 blepharophimosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:23806086|PMID:24088041|PMID:24674232|PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1316702 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 708504 Arid1b AT-rich interaction domain 1B gene DOID:1059 intellectual disability ISO RGD:1316702 D RGD:11526783|PMID:24674232 20171012 RGD DNA:frameshift,nonsense mutations, haploinsufficiency:cds: 708504 Arid1b AT-rich interaction domain 1B gene DOID:1059 intellectual disability ISO RGD:1316702 D RGD:13439723|PMID:22405089 20171012 RGD DNA:haploinsufficiency :: 708504 Arid1b AT-rich interaction domain 1B gene DOID:1059 intellectual disability ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 708504 Arid1b AT-rich interaction domain 1B gene DOID:10763 hypertension treatment IEP D RGD:9587762|PMID:17489020 20141016 RGD 708504 Arid1b AT-rich interaction domain 1B gene DOID:10907 microcephaly ISO RGD:1316702 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:10908 hydrocephalus ISO RGD:1316703 D RGD:13439722|PMID:28867767 20171012 RGD 708504 Arid1b AT-rich interaction domain 1B gene DOID:1793 pancreatic cancer ISO RGD:1316702 D RGD:8694154|PMID:23355908 20140725 RGD 708504 Arid1b AT-rich interaction domain 1B gene DOID:1826 epilepsy ISO RGD:1316702 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 708504 Arid1b AT-rich interaction domain 1B gene DOID:1826 epilepsy ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15057123|PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:9536098 708504 Arid1b AT-rich interaction domain 1B gene DOID:1925 Coffin-Siris syndrome ISO RGD:1316702 D RGD:11526783|PMID:24674232 20171012 RGD DNA:frameshift,nonsense mutations, haploinsufficiency:cds: 708504 Arid1b AT-rich interaction domain 1B gene DOID:1925 Coffin-Siris syndrome ISO RGD:1316702 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308|PMID:22426309 708504 Arid1b AT-rich interaction domain 1B gene DOID:1925 Coffin-Siris syndrome ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 708504 Arid1b AT-rich interaction domain 1B gene DOID:3070 high grade glioma ISO RGD:1316702 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:326 ischemia IDA D RGD:1302474|PMID:14633620 20061017 RGD 708504 Arid1b AT-rich interaction domain 1B gene DOID:326 ischemia IEP D RGD:1302474|PMID:14633620 20171013 RGD mRNA,protein:increased expression:renal medulla, cortex of kidney 708504 Arid1b AT-rich interaction domain 1B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316702 D RGD:126848874|PMID:32791957 20210505 RGD DNA:mutations 708504 Arid1b AT-rich interaction domain 1B gene DOID:3948 adrenocortical carcinoma ISO RGD:1316702 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:25674384|PMID:28492532|PMID:30349098 708504 Arid1b AT-rich interaction domain 1B gene DOID:420 hypertrichosis ISO RGD:1316702 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:557 kidney disease ISO RGD:1316702 D RGD:1302474|PMID:14633620 20171013 RGD 708504 Arid1b AT-rich interaction domain 1B gene DOID:630 genetic disease ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25326635|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26376624|PMID:27391121|PMID:27474218|PMID:27824329|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:31164752|PMID:34706719|PMID:9536098 708504 Arid1b AT-rich interaction domain 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1316702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 708504 Arid1b AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 708504 Arid1b AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:13439724|PMID:23202128 20171012 RGD DNA:deletion,haploinsufficiency: : 708504 Arid1b AT-rich interaction domain 1B gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:30349098|PMID:34706719 708504 Arid1b AT-rich interaction domain 1B gene DOID:9002112 Growth Deficiency and Mental Retardation with Facial Dysmorphism ISO RGD:1316702 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 708504 Arid1b AT-rich interaction domain 1B gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1316702 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1316702 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316702 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 708504 Arid1b AT-rich interaction domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316702 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:9004507 Hirsutism ISO RGD:1316702 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hirsutism 708504 Arid1b AT-rich interaction domain 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316702 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 708504 Arid1b AT-rich interaction domain 1B gene DOID:9008086 Developmental Disabilities ISO RGD:1316702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741885 708504 Arid1b AT-rich interaction domain 1B gene DOID:9008582 Developmental Disease ISO RGD:1316702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 708505 Cep104 centrosomal protein 104 gene DOID:0050753 cerebellar ataxia ISO RGD:1605416 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:32581362 708505 Cep104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 708505 Cep104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:26477546|PMID:28492532|PMID:35372954 708505 Cep104 centrosomal protein 104 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708505 Cep104 centrosomal protein 104 gene DOID:0060041 autism spectrum disorder ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 708505 Cep104 centrosomal protein 104 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605416 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 708505 Cep104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:7240710 20220831 OMIM 708505 Cep104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 77 PMID:34196201|PMID:35359234 708505 Cep104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:7240710 20190315 OMIM 708505 Cep104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:35372954|PMID:9536098|PMID:9683594 708505 Cep104 centrosomal protein 104 gene DOID:0111934 immunodeficiency 38 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708505 Cep104 centrosomal protein 104 gene DOID:0111935 immunodeficiency 16 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708505 Cep104 centrosomal protein 104 gene DOID:630 genetic disease ISO RGD:1605416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 708505 Cep104 centrosomal protein 104 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605416 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708505 Cep104 centrosomal protein 104 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0050777 Joubert syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:1826 epilepsy ISO RGD:1602888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:3652 Leigh disease ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:630 genetic disease ISO RGD:1602888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708507 Egfl7 EGF-like-domain, multiple 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708508 Obp3 alpha-2u globulin PGCL4 gene DOID:409 liver disease EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:1715830 708508 Obp3 alpha-2u globulin PGCL4 gene DOID:5082 liver cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 708508 Obp3 alpha-2u globulin PGCL4 gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 708508 Obp3 alpha-2u globulin PGCL4 gene DOID:9007383 Chemical and Drug Induced Liver Injury EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 708510 Akap14 A-kinase anchoring protein 14 gene DOID:0050437 Danon disease ISO RGD:1353822 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 708510 Akap14 A-kinase anchoring protein 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353822 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 708510 Akap14 A-kinase anchoring protein 14 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 708510 Akap14 A-kinase anchoring protein 14 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 708510 Akap14 A-kinase anchoring protein 14 gene DOID:12849 autistic disorder ISO RGD:1353822 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708510 Akap14 A-kinase anchoring protein 14 gene DOID:630 genetic disease ISO RGD:1353822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708511 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:0080600 COVID-19 ISO RGD:1344691 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708511 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1344691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708511 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1344691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 708511 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9278 hyperargininemia ISO RGD:1344691 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:151361157|PMID:24762957 20220225 RGD 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:0080600 COVID-19 ISO RGD:1347799 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347799 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347799 D RGD:151361149|PMID:33609949 20220224 RGD protein:increased expression:esophagus 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:11532833|PMID:26936531 20220228 RGD 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347799 D RGD:151361150|PMID:26279756 20220224 RGD 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:630 genetic disease ISO RGD:1347799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:6432 pulmonary hypertension ISO RGD:1347799 D RGD:151361111|PMID:23794090 20220223 RGD protein:increased expression:myocytes plasma membrane, right ventricle 708512 Slc1a5 solute carrier family 1 member 5 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:151361111|PMID:23794090 20220223 RGD mRNA:increased expression:right ventricle 708513 Npb neuropeptide B gene DOID:11612 polycystic ovary syndrome ISO RGD:736156 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 708513 Npb neuropeptide B gene DOID:630 genetic disease ISO RGD:736156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708516 Ptpn7 protein tyrosine phosphatase, non-receptor type 7 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 708516 Ptpn7 protein tyrosine phosphatase, non-receptor type 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1605720 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 708516 Ptpn7 protein tyrosine phosphatase, non-receptor type 7 gene DOID:630 genetic disease ISO RGD:1605720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708516 Ptpn7 protein tyrosine phosphatase, non-receptor type 7 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 708516 Ptpn7 protein tyrosine phosphatase, non-receptor type 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605720 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 708517 Stxbp5 syntaxin binding protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1347913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 708517 Stxbp5 syntaxin binding protein 5 gene DOID:630 genetic disease ISO RGD:1347913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1347817 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:10283 prostate cancer ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25466870|PMID:28940199 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:630 genetic disease ISO RGD:1347817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:7240710 20171011 OMIM 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25466870|PMID:25741868|PMID:28940199|PMID:32738013|PMID:33486469 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347817 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 708518 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1347817 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 708519 Brinp1 BMP/retinoic acid inducible neural specific 1 gene DOID:0060041 autism spectrum disorder ISS RGD:734244 D RGD:13592920 20190516 MouseDO 708519 Brinp1 BMP/retinoic acid inducible neural specific 1 gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:734244 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 708519 Brinp1 BMP/retinoic acid inducible neural specific 1 gene DOID:630 genetic disease ISO RGD:1352710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708520 Vcpip1 valosin containing protein interacting protein 1 gene DOID:3911 progeria ISS RGD:1552825 D RGD:13592920 20210422 MouseDO OMIM:176670 708520 Vcpip1 valosin containing protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708521 Riox2 ribosomal oxygenase 2 gene DOID:630 genetic disease ISO RGD:1602998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708521 Riox2 ribosomal oxygenase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1602998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15897898 708522 Aacs acetoacetyl-CoA synthetase gene DOID:630 genetic disease ISO RGD:732340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708522 Aacs acetoacetyl-CoA synthetase gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2301022|PMID:12034369 20080922 RGD protein:decreased activity:liver 708522 Aacs acetoacetyl-CoA synthetase gene DOID:9970 obesity IEP D RGD:2326191|PMID:19219059 20100629 RGD mRNA:altered expression:thalamus, hypothalamus (rat) 708523 Septin9 septin 9 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532|PMID:32122354 708523 Septin9 septin 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349459 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 708523 Septin9 septin 9 gene DOID:10383 amyotrophic neuralgia ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 708523 Septin9 septin 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25025039|PMID:28492532 708523 Septin9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17546647 708523 Septin9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:1599349|PMID:16186812 20070130 RGD hereditary neuralgic amyotrophy, OMIM:604061 708523 Septin9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:7240710 20131030 OMIM 708523 Septin9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 708523 Septin9 septin 9 gene DOID:630 genetic disease ISO RGD:1349459 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708523 Septin9 septin 9 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1349459 D RGD:153344541|PMID:20140221 20220824 RGD DNA:altered methylation:plasma: 708523 Septin9 septin 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349459 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 708523 Septin9 septin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1349459 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:10339604 708523 Septin9 septin 9 gene DOID:9240 erythromelalgia ISO RGD:1349459 D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 708523 Septin9 septin 9 gene DOID:9256 colorectal cancer ISO RGD:1349459 D RGD:153344542|PMID:33504902 20220824 RGD DNA:hypermethylation:urine: 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348160 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:10763 hypertension ISO RGD:1348160 D RGD:11554173 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:12932 endomyocardial fibrosis ISO RGD:1348160 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:30703374 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1348160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1348160 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:30703374 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:9003936 Cardiomegaly ISO RGD:1348160 D RGD:11554173 20190312 CTD CTD Direct Evidence: therapeutic PMID:30703374 708525 Fndc5 fibronectin type III domain containing 5 gene DOID:9005372 Inflammation ISO RGD:1348160 D RGD:11554173 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 708526 Asrgl1 asparaginase and isoaspartyl peptidase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 708526 Asrgl1 asparaginase and isoaspartyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1343525 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708526 Asrgl1 asparaginase and isoaspartyl peptidase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1343525 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 708526 Asrgl1 asparaginase and isoaspartyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1343525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708527 Lrrc7 leucine rich repeat containing 7 gene DOID:1059 intellectual disability ISO RGD:1349743 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 708527 Lrrc7 leucine rich repeat containing 7 gene DOID:630 genetic disease ISO RGD:1349743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708527 Lrrc7 leucine rich repeat containing 7 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 708528 Has1 hyaluronan synthase 1 gene DOID:2661 myoepithelioma ISO RGD:1343910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 708528 Has1 hyaluronan synthase 1 gene DOID:399 tuberculosis ISO RGD:1552209 D RGD:9588638|PMID:19876387 20141103 RGD 708528 Has1 hyaluronan synthase 1 gene DOID:630 genetic disease ISO RGD:1343910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708528 Has1 hyaluronan synthase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:9588633|PMID:19915162 20141103 RGD 708528 Has1 hyaluronan synthase 1 gene DOID:9003936 Cardiomegaly IEP D RGD:2289364|PMID:18196276 20141103 RGD mRNA:increased expression:heart 708528 Has1 hyaluronan synthase 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9588636|PMID:22529164 20141103 RGD 708529 Mrs2 magnesium transporter MRS2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:732788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 708529 Mrs2 magnesium transporter MRS2 gene DOID:3213 demyelinating disease IAGP D RGD:12793070|PMID:21253565 20170320 RGD DNA:missense mutation:intron(rat) 708529 Mrs2 magnesium transporter MRS2 gene DOID:630 genetic disease ISO RGD:732788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:7240710 20130221 OMIM 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:15042513|PMID:15937078|PMID:16088246|PMID:16179904|PMID:16199547|PMID:17962476|PMID:18398705|PMID:21385027|PMID:21565171|PMID:22087103|PMID:22497028|PMID:22693542|PMID:22772592|PMID:23221965|PMID:23538635|PMID:23661369|PMID:24033266|PMID:24480711|PMID:24739949|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:27658286|PMID:28051075|PMID:28492532|PMID:28512305|PMID:28698241|PMID:28763560|PMID:28848678|PMID:29691984|PMID:29785639|PMID:30429639|PMID:31512983|PMID:31960602|PMID:33090715|PMID:33546218 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312886 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28492532 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28051075|PMID:28492532|PMID:33090715 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:12849 autistic disorder ISO RGD:1312886 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:2229 factor XI deficiency ISO RGD:1312886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:2566 corneal dystrophy ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:15042513|PMID:15937078|PMID:23221965|PMID:24480711|PMID:25741868|PMID:28492532 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:630 genetic disease ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:8501 fundus dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15042513|PMID:15937078|PMID:22772592|PMID:23221965|PMID:24033266|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:28051075|PMID:28492532|PMID:28848678 708530 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1312886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080016 spina bifida ISO RGD:732147 D RGD:1600190|PMID:9611072 20070302 RGD 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12384833|PMID:16552426 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:1600189|PMID:16315005 20070302 RGD 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:732147 D RGD:11086705|PMID:25524527 20170630 RGD DNA:SNP:cds:1958G>A (rs2236225)(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080633 developmental cardiac valvular defect susceptibility ISO RGD:732147 D RGD:12910957|PMID:18767138 20170630 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome ISO RGD:732147 D RGD:12914150|PMID:15068241 20170711 RGD protein:increased expression:brain: 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome no_association ISO RGD:732147 D RGD:12910960|PMID:22339736 20170630 RGD DNA:SNP:cds:1958G>A(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome susceptibility ISO RGD:732147 D RGD:12910959|PMID:25671679 20170630 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:627 severe combined immunodeficiency ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:21813566|PMID:23296427|PMID:23402911|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:630 genetic disease ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:732147 D RGD:12910957|PMID:18767138 20170630 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:674 cleft palate susceptibility ISO RGD:732147 D RGD:12914151|PMID:18661527 20170711 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:732147 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to | ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to PMID:15633187|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:24033266|PMID:25741868|PMID:28492532 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:732147 D RGD:7240710 20230517 OMIM 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732148 D RGD:12910955|PMID:22378735 20170630 RGD 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:12910958|PMID:25118499 20170630 RGD DNA:SNP: :401A>G(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:12914148|PMID:18771981 20170711 RGD DNA:SNP:cds:1958G>A(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia PMID:11004530|PMID:15633187|PMID:16199547|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:21813566|PMID:23296427|PMID:23402911|PMID:24033266|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia susceptibility ISO RGD:732147 D RGD:7240710 20230517 OMIM 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip no_association ISO RGD:732147 D RGD:12910962|PMID:18261183 20170630 RGD DNA:SNP:cds:1958G>A(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip susceptibility ISO RGD:732147 D RGD:12910961|PMID:25129243 20170630 RGD DNA:SNP:cds:1958G>A(human) 708531 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9667 placental abruption ISO RGD:732147 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15633187 708532 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:0050773 paraganglioma ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 708532 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 708532 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:1059 intellectual disability ISO RGD:735928 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 708532 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:630 genetic disease ISO RGD:735928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708532 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 708533 Rimbp2 RIMS binding protein 2 gene DOID:630 genetic disease ISO RGD:1606822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708534 Sult1b1 sulfotransferase family 1B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354463 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708534 Sult1b1 sulfotransferase family 1B member 1 gene DOID:630 genetic disease ISO RGD:1354463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708534 Sult1b1 sulfotransferase family 1B member 1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 708535 Slc27a5 solute carrier family 27 member 5 gene DOID:2661 myoepithelioma ISO RGD:1349953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 708535 Slc27a5 solute carrier family 27 member 5 gene DOID:630 genetic disease ISO RGD:1349953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:7240710 20130221 OMIM 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 PMID:18784102|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28893421 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:10763 hypertension IEP D RGD:1580741|PMID:15311100 20150325 RGD 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1342625 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:585 nephrolithiasis ISO RGD:1342625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:18784102|PMID:24033266|PMID:28492532|PMID:28893421 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1342625 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708538 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:784 chronic kidney disease ISO RGD:1342625 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:18784102|PMID:25741868|PMID:28492532 708539 Kcnip4 potassium voltage-gated channel interacting protein 4 gene DOID:630 genetic disease ISO RGD:733209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:0050127 sinusitis ISO RGD:1345336 D RGD:5135257|PMID:19153309 20110715 RGD associated with Rhinitis;mRNA:increased expression:paranasal sinus 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345336 D RGD:5135241|PMID:20137269 20110714 RGD DNA:polymorphism:promoter:-156G>C (human) 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345336 D RGD:5135250|PMID:11751193 20110715 RGD protein:increased expression:lung, macrophage, type II pneumocyte 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:0050848 obstructive sleep apnea ISO RGD:1345336 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15988615|REF_RGD_ID:4892031 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:0060496 respiratory allergy ISO RGD:1552792 D RGD:5135242|PMID:18417511 20110714 RGD mRNA:increased expression:lung 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:0080600 COVID-19 ISO RGD:1345336 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:10457 Legionnaires' disease ISO RGD:1552792 D RGD:5135252|PMID:11254553 20110715 RGD mRNA, protein:increased expression:lung 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:10459 common cold ISO RGD:1345336 D RGD:5135264|PMID:12751040 20110718 RGD associated with Asthma 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1345336 D RGD:4143190|PMID:8810593 20110715 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1345336 D RGD:5135244|PMID:17052298 20110715 RGD protein:increased expression:respiratory system fluid/secretion 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:14654 prostatitis IEP D RGD:5134993|PMID:21254154 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:1520 colon carcinoma disease_progression IMP D RGD:5135268|PMID:18413816 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:1580 diffuse scleroderma ISO RGD:1345336 D RGD:5135258|PMID:18432520 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1345336 D RGD:5135258|PMID:18432520 20110718 RGD associated with Scleroderma, Diffuse 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1345336 D RGD:5135260|PMID:16085216 20110718 RGD protein:increased expression:serum 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:2841 asthma ISO RGD:1345336 D RGD:5135243|PMID:17234659 20110715 RGD mRNA:increased expression:bronchus epithelium 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:2841 asthma ISO RGD:1552792 D RGD:5135265|PMID:9620668 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:2945 severe acute respiratory syndrome IEP D RGD:4143520|PMID:19741068 20110718 RGD protein:increased expression:respiratory fluid/secretion 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1552792 D RGD:5135246|PMID:16790804 20140130 RGD mRNA:increased expression:lung 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1345336 D RGD:5135248|PMID:12857718 20110715 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:4483 rhinitis ISO RGD:1345336 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20659080|REF_RGD_ID:4892030 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:552 pneumonia ISO RGD:1345336 D RGD:5135259|PMID:18410262 20110718 RGD protein:increased expression:sputum 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:630 genetic disease ISO RGD:1345336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1345336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:8398 osteoarthritis ISO RGD:1345336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:874 bacterial pneumonia ISO RGD:1552792 D RGD:4145490|PMID:19846873 20110714 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345336 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:5135271|PMID:10498645 20110718 RGD mRNA:increased expression:liver 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9002457 Experimental Arthritis severity IMP D RGD:5135272|PMID:10358204 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9003871 Venous Thrombosis IEP D RGD:5135275|PMID:7749835 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:5135251|PMID:11580116 20110715 RGD protein:increased expression:liver 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:5135270|PMID:10655268 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9004484 Sepsis ISO RGD:1552792 D RGD:5135255|PMID:9284162 20110715 RGD protein:increased expression:multiple tissues 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9004610 Acute Lung Injury IMP D RGD:5135256|PMID:7814607 20110715 RGD associated with Reperfusion Injury 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1552792 D RGD:5135247|PMID:15557650 20110715 RGD mRNA, protein:increased expression:lung 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9005930 Endotoxemia ISO RGD:1552792 D RGD:5135254|PMID:9766630 20110715 RGD mRNA:increased expression:multiple organs 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:5135269|PMID:11342480 20110718 RGD 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1552792 D RGD:38549349|PMID:29085807 20200828 RGD mRNA:altered expression:gastric antrum (mouse) 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9279 hyperhomocysteinemia ISO RGD:1345336 D RGD:5135249|PMID:11950713 20110715 RGD protein:increased expression:plasma 708540 Cxcl6 C-X-C motif chemokine ligand 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552792 D RGD:5135245|PMID:17023518 20110715 RGD mRNA:increased expression:lung 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:0081267 graft-versus-host disease ISO RGD:1350006 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:19935662 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:11476 osteoporosis ISO RGD:1350006 D RGD:7240710 20181003 OMIM 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:11476 osteoporosis ISO RGD:1350006 D RGD:8554872 20181002 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 PMID:18992858 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:299 adenocarcinoma ISO RGD:1350006 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:17416778 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:630 genetic disease ISO RGD:1350006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350006 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:17826523 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:9005172 Lung Neoplasms ISO RGD:1350006 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:17416778 708541 Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11541075|PMID:20487213 20161006 RGD mRNA:increased expression:liver 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:10763 hypertension ISO RGD:732566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:13678427 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:13241 Behcet's disease ISO RGD:732566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:2843 long QT syndrome ISO RGD:732566 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:732566 D RGD:2315693|PMID:15741767 20100108 RGD 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:2893 cervix carcinoma ISO RGD:732566 D RGD:2315691|PMID:19202550 20100108 RGD DNA:SNPs (human) 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:732566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:7147 ankylosing spondylitis ISO RGD:732566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062|PMID:21743469|PMID:23291587 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:8893 psoriasis ISO RGD:732566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:20953190|PMID:23291587|PMID:24212883 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732566 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732566 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9005287 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ISO RGD:732566 D RGD:8554872 20150623 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:3527073 708542 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 708543 Epha8 Eph receptor A8 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 708543 Epha8 Eph receptor A8 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 708543 Epha8 Eph receptor A8 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 708543 Epha8 Eph receptor A8 gene DOID:630 genetic disease ISO RGD:1350663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708543 Epha8 Eph receptor A8 gene DOID:9002189 High Myopia ISO RGD:1350663 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 708543 Epha8 Eph receptor A8 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 708544 Samd13 sterile alpha motif domain containing 13 gene DOID:630 genetic disease ISO RGD:1606448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19463981|PMID:24033266|PMID:25741868 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0080600 COVID-19 ISO RGD:1601767 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:7240710 20190315 OMIM 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 PMID:19463981|PMID:25741868|PMID:27986404|PMID:28492532|PMID:34656053 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1601767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34656053 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601767 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 708545 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1601767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 708547 Muc13 mucin 13, cell surface associated gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 708547 Muc13 mucin 13, cell surface associated gene DOID:326 ischemia IEP D RGD:7349363|PMID:22768227 20130920 RGD protein:increased degradation:jejunum 708547 Muc13 mucin 13, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:1553384 D RGD:7364766|PMID:21155842 20130926 RGD protein:increased expression:cecum, glycocalyx 708547 Muc13 mucin 13, cell surface associated gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 708547 Muc13 mucin 13, cell surface associated gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1350619 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 708547 Muc13 mucin 13, cell surface associated gene DOID:9270 alkaptonuria ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 708548 Necab1 N-terminal EF-hand calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:1342968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708549 Nlrp6 NLR family, pyrin domain containing 6 gene DOID:0111969 immunodeficiency 39 ISO RGD:1350327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 708549 Nlrp6 NLR family, pyrin domain containing 6 gene DOID:630 genetic disease ISO RGD:1350327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708550 Prpf18 pre-mRNA processing factor 18 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731692 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 708550 Prpf18 pre-mRNA processing factor 18 gene DOID:630 genetic disease ISO RGD:731692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0050777 Joubert syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:7240710 20130221 OMIM 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria PMID:16199547|PMID:16358214|PMID:16358215|PMID:16849419|PMID:17576681|PMID:18523928|PMID:18996815|PMID:19820004|PMID:20074341|PMID:21344632|PMID:22159077|PMID:22387237|PMID:24033266|PMID:24176905|PMID:24246249|PMID:25741868|PMID:26399350|PMID:26789268|PMID:28492532|PMID:29505567|PMID:29809158|PMID:2983203|PMID:31440709|PMID:31672324|PMID:33223529|PMID:33226606|PMID:33532864|PMID:9536098 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348656 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25741868|PMID:28492532|PMID:31672324 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:1826 epilepsy ISO RGD:1348656 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:630 genetic disease ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:9001738 Hypercalciuria ISO RGD:1348656 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypercalciuria 708551 Slc34a3 solute carrier family 34 member 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708552 Steap3 STEAP3 metalloreductase gene DOID:0080600 COVID-19 ISO RGD:1605372 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708552 Steap3 STEAP3 metalloreductase gene DOID:630 genetic disease ISO RGD:1605372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708552 Steap3 STEAP3 metalloreductase gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:1605372 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism 708552 Steap3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:7240710 20140911 OMIM 708552 Steap3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 PMID:22031863 708553 Thoc6 THO complex subunit 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 708553 Thoc6 THO complex subunit 6 gene DOID:1826 epilepsy ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 708553 Thoc6 THO complex subunit 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601739 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 708553 Thoc6 THO complex subunit 6 gene DOID:630 genetic disease ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31421288|PMID:32790266 708553 Thoc6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:7240710 20131002 OMIM 708553 Thoc6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations PMID:18414213|PMID:23621916|PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30238602|PMID:30476144|PMID:31421288|PMID:32790266 708554 Sulf1 sulfatase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733350 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708554 Sulf1 sulfatase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733350 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30127996 708554 Sulf1 sulfatase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733350 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 708554 Sulf1 sulfatase 1 gene DOID:630 genetic disease ISO RGD:733350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708554 Sulf1 sulfatase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733350 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17310998 708556 Chmp3 charged multivesicular body protein 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1351348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 708557 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733957 D RGD:11065111|PMID:15800013 20181217 RGD 708557 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:2717 Bloom syndrome ISO RGD:733957 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 708557 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:3213 demyelinating disease ISO RGD:1557638 D RGD:13831132|PMID:17722065 20181217 RGD 708557 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:630 genetic disease ISO RGD:733957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708557 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733957 D RGD:13831131|PMID:29067245 20181217 RGD associated with pheochromocytoma 708557 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9256 colorectal cancer ISO RGD:733957 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 708558 Nol3 nucleolar protein 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 708558 Nol3 nucleolar protein 3 gene DOID:0080600 COVID-19 ISO RGD:1352407 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708558 Nol3 nucleolar protein 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 708558 Nol3 nucleolar protein 3 gene DOID:630 genetic disease ISO RGD:1352407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708558 Nol3 nucleolar protein 3 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352407 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19139834 708558 Nol3 nucleolar protein 3 gene DOID:9009015 Familial Myoclonus 1 ISO RGD:1352407 D RGD:7240710 20140911 OMIM 708558 Nol3 nucleolar protein 3 gene DOID:9009015 Familial Myoclonus 1 ISO RGD:1352407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 1 PMID:22926851|PMID:25741868 708559 Wipf3 WAS/WASL interacting protein family, member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605143 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 708559 Wipf3 WAS/WASL interacting protein family, member 3 gene DOID:630 genetic disease ISO RGD:1605143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708560 Coro6 coronin 6 gene DOID:0080600 COVID-19 ISO RGD:1354094 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708560 Coro6 coronin 6 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1354094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 708560 Coro6 coronin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1354094 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 708560 Coro6 coronin 6 gene DOID:630 genetic disease ISO RGD:1354094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708561 Afdn afadin, adherens junction formation factor gene DOID:0060041 autism spectrum disorder ISO RGD:731514 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 708561 Afdn afadin, adherens junction formation factor gene DOID:14330 Parkinson's disease ISO RGD:731514 D RGD:13838733|PMID:23393160 20190111 RGD protein:decreased expression: caudate-putamen, substantia nigra 708561 Afdn afadin, adherens junction formation factor gene DOID:3459 breast carcinoma disease_progression ISO RGD:731514 D RGD:13838725|PMID:16819513 20190109 RGD 708561 Afdn afadin, adherens junction formation factor gene DOID:630 genetic disease ISO RGD:731514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708563 Tspoap1 TSPO associated protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1346920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 708563 Tspoap1 TSPO associated protein 1 gene DOID:0080600 COVID-19 ISO RGD:1346920 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 708563 Tspoap1 TSPO associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1346920 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33539324 708563 Tspoap1 TSPO associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 708563 Tspoap1 TSPO associated protein 1 gene DOID:630 genetic disease ISO RGD:1346920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708563 Tspoap1 TSPO associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346920 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33539324 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736900 D RGD:1600104|PMID:10097140 20070228 RGD esophageal squamous cell carcinoma, OMIM:133239 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:3459 breast carcinoma ISO RGD:736900 D RGD:151893465|PMID:18686028 20220420 RGD mRNA, protein:decreased exoression:breast, tumor (human) 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736900 D RGD:8554872 20160901 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:10097140 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:5041 esophageal cancer ISO RGD:736900 D RGD:1600104|PMID:10097140 20070228 RGD esophageal squamous cell carcinoma, OMIM:133239 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:5041 esophageal cancer ISO RGD:736900 D RGD:7240710 20180418 OMIM 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:630 genetic disease ISO RGD:736900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736900 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 708565 Lzts1 leucine zipper tumor suppressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736900 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12377406 708566 St18 ST18 C2H2C-type zinc finger transcription factor gene DOID:630 genetic disease ISO RGD:736954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:734063 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0090111 PCWH syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:734063 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:734063 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:734063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34599368|PMID:9462749 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:734063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:10487 Hirschsprung's disease ISO RGD:734063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:1059 intellectual disability ISO RGD:734063 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:3614 Kallmann syndrome ISO RGD:734063 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:630 genetic disease ISO RGD:734063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:9004042 Olfaction Disorders ISO RGD:734063 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:9004147 Anosmia ISO RGD:734063 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:9004538 Hearing Loss ISO RGD:734063 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:9008681 Deafness ISO RGD:734063 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 708567 Polr2f RNA polymerase II, I and III subunit F gene DOID:9258 Waardenburg's syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 708568 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:1346664 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868 708568 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:3307 teratoma ISO RGD:1346664 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 708568 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:630 genetic disease ISO RGD:1346664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708569 Clmp CXADR-like membrane protein gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1602686 D RGD:11554173 20220322 CTD CTD Direct Evidence: marker/mechanism 708569 Clmp CXADR-like membrane protein gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal pseudo-obstruction PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 708569 Clmp CXADR-like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:7240710 20220316 OMIM 708569 Clmp CXADR-like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome 1 PMID:16707984|PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 708569 Clmp CXADR-like membrane protein gene DOID:5419 schizophrenia ISO RGD:1602686 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 708569 Clmp CXADR-like membrane protein gene DOID:630 genetic disease ISO RGD:1602686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708569 Clmp CXADR-like membrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602686 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 708569 Clmp CXADR-like membrane protein gene DOID:9007661 Dwarfism ISO RGD:1602686 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 708572 Arl6ip5 ADP-ribosylation factor like GTPase 6 interacting protein 5 gene DOID:0060001 withdrawal disorder ISO RGD:1344465 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21600884 708572 Arl6ip5 ADP-ribosylation factor like GTPase 6 interacting protein 5 gene DOID:630 genetic disease ISO RGD:1344465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708572 Arl6ip5 ADP-ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344465 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 708572 Arl6ip5 ADP-ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344465 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 708572 Arl6ip5 ADP-ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344465 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 708573 Cadps calcium dependent secretion activator gene DOID:10283 prostate cancer ISO RGD:1344966 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 708573 Cadps calcium dependent secretion activator gene DOID:630 genetic disease ISO RGD:1344966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708574 Dclre1c DNA cross-link repair 1C gene DOID:0060010 Omenn syndrome ISO RGD:1348428 D RGD:7240710 20130221 OMIM 708574 Dclre1c DNA cross-link repair 1C gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348428 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 708574 Dclre1c DNA cross-link repair 1C gene DOID:0080915 histiocytic sarcoma ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:11336668|PMID:15071507|PMID:15731174|PMID:17576681|PMID:18223550|PMID:19953608|PMID:21664875|PMID:24033266|PMID:24144642|PMID:25741868|PMID:25917813|PMID:26122175|PMID:26123418|PMID:26822949|PMID:28492532|PMID:34426522|PMID:9536098 708574 Dclre1c DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:7240710 20130221 OMIM 708574 Dclre1c DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial PMID:11336668|PMID:12055248|PMID:12569164|PMID:12592555|PMID:14744996|PMID:15071507|PMID:15242402|PMID:15731174|PMID:15770702|PMID:16199547|PMID:17169382|PMID:17576681|PMID:18034425|PMID:18223550|PMID:19763152|PMID:19912631|PMID:19953608|PMID:19967552|PMID:20307669|PMID:20674517|PMID:21147755|PMID:21390052|PMID:21664875|PMID:22406018|PMID:22527898|PMID:23701501|PMID:24033266|PMID:24144642|PMID:24230999|PMID:25640679|PMID:25741868|PMID:25762520|PMID:25917813|PMID:25981738|PMID:26122175|PMID:26123418|PMID:26476407|PMID:26822949|PMID:27611239|PMID:28492532|PMID:28747913|PMID:29167666|PMID:32888943|PMID:34220820|PMID:34426522|PMID:9536098 708574 Dclre1c DNA cross-link repair 1C gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:14033838 D RGD:9068941 20221006 OMIA Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation PMID:17998435|PMID:22903400|PMID:23514746|PMID:25454085|PMID:26320255|PMID:27269786|PMID:27988511|PMID:28747915|PMID:29152615|PMID:30560086|PMID:30723704|PMID:30843296|PMID:32117254|PMID:32296428|PMID:34004455 708574 Dclre1c DNA cross-link repair 1C gene DOID:12177 common variable immunodeficiency ISO RGD:1348428 D RGD:11251730|PMID:26476407 20160620 RGD DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) 708574 Dclre1c DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:20674517|PMID:22527898|PMID:24033266|PMID:25741868|PMID:25917813|PMID:28492532|PMID:29167666 708574 Dclre1c DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency susceptibility ISO RGD:1348428 D RGD:1601049|PMID:11336668 20070404 RGD DNA:deletion:exon 708574 Dclre1c DNA cross-link repair 1C gene DOID:630 genetic disease ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 708575 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1603291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 708575 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:28492532 708575 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:607 paraplegia ISO RGD:1603291 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 708575 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1603291 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 708576 Syt17 synaptotagmin 17 gene DOID:630 genetic disease ISO RGD:734045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708578 Asic3 acid sensing ion channel subunit 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 708578 Asic3 acid sensing ion channel subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1353665 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 708578 Asic3 acid sensing ion channel subunit 3 gene DOID:630 genetic disease ISO RGD:1353665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708578 Asic3 acid sensing ion channel subunit 3 gene DOID:9005372 Inflammation ISO RGD:1353665 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 708579 Tax1bp1 Tax1 binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348047 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 708579 Tax1bp1 Tax1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1348047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708580 Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 gene DOID:0050912 colon adenoma ISO RGD:1623845 D RGD:11086893|PMID:26194191 20201215 RGD 708580 Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708580 Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606571 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 708580 Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 gene DOID:8566 herpes simplex ISO RGD:1623845 D RGD:40902865|PMID:30050136 20201215 RGD 708580 Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1606571 D RGD:11554173 20220607 CTD CTD Direct Evidence: therapeutic PMID:34974052 708581 Serpina4 serpin family A member 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1348774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 708581 Serpina4 serpin family A member 4 gene DOID:1790 malignant mesothelioma ISO RGD:1348774 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 708581 Serpina4 serpin family A member 4 gene DOID:630 genetic disease ISO RGD:1348774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708581 Serpina4 serpin family A member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348774 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19709125 708581 Serpina4 serpin family A member 4 gene DOID:8947 diabetic retinopathy ISO RGD:1348774 D RGD:1580289|PMID:8950506 19990101 RGD protein:decreased expression:vitreous fluid (human) 708581 Serpina4 serpin family A member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348774 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 708583 Mamdc4 MAM domain containing 4 gene DOID:0050777 Joubert syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 708583 Mamdc4 MAM domain containing 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 708583 Mamdc4 MAM domain containing 4 gene DOID:3652 Leigh disease ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 708583 Mamdc4 MAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708583 Mamdc4 MAM domain containing 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 708584 Spon2 spondin 2 gene DOID:1856 cherubism ISO RGD:1352786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 708584 Spon2 spondin 2 gene DOID:630 genetic disease ISO RGD:1352786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 708584 Spon2 spondin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352786 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 708584 Spon2 spondin 2 gene DOID:9002514 Neointima IMP D RGD:329328927|PMID:25751394 20230427 RGD 708584 Spon2 spondin 2 gene DOID:9002514 Neointima ISO RGD:731918 D RGD:329328927|PMID:25751394 20230425 RGD 708584 Spon2 spondin 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:731918 D RGD:329328927|PMID:25751394 20230425 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:7240710 20190315 OMIM 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive PMID:25741868|PMID:27453578|PMID:27453579|PMID:27503289|PMID:27519304|PMID:28492532 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:731048 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:27453579|PMID:27503289 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:731048 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:731048 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:10907 microcephaly IAGP D RGD:13204836|PMID:10219263 20180501 RGD 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy IAGP D RGD:13204836|PMID:10219263 20180501 RGD 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:731049 D RGD:734780|PMID:11086988 19990101 RGD 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:1826 epilepsy IAGP D RGD:13204836|PMID:10219263 20201210 RGD 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:731048 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:630 genetic disease ISO RGD:731048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27453579|PMID:28492532 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:9004866 Ataxia ISO RGD:731049 D RGD:734780|PMID:11086988 19990101 RGD 70878 Cit citron rho-interacting serine/threonine kinase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731048 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:25741868|PMID:28492532 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1059 intellectual disability ISO RGD:731594 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11372 megacolon ISO RGD:731594 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11476 osteoporosis ISO RGD:731594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1184 nephrotic syndrome ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1432 blindness ISO RGD:731594 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:15114530 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:4448 macular degeneration ISO RGD:731594 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:630 genetic disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:653 purine-pyrimidine metabolic disorder susceptibility ISO RGD:731594 D RGD:1599355|PMID:15114530 20070130 RGD 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:731594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19193698 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:784 chronic kidney disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9002457 Experimental Arthritis IMP D RGD:5144054|PMID:17408934 20110728 RGD 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731594 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:15114530 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:7240710 20171011 OMIM 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar Annotator: match by term: ATIC DEFICIENCY PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:25741868|PMID:28492532 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731594 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16947783 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731594 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 70879 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:936 brain disease ISO RGD:731594 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:733365 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:733365 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:733365 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:14390076|PMID:24127863 20190219 RGD protein:increased expression:lung 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:733365 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:733365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733365 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 70880 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:733365 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0050424 familial adenomatous polyposis ISO RGD:737492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:737492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737492 D RGD:40903003|PMID:29636444 20201222 RGD protein:increased expression:urine 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:737492 D RGD:40907060|PMID:23436019 20210112 RGD protein:increased processing:serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis disease_progression IEP D RGD:40907060|PMID:23436019 20210112 RGD protein:increased expression, increased processing:serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5082 liver cirrhosis ISO RGD:737492 D RGD:40903002|PMID:24836184 20201222 RGD associated with hepatitis B;protein:increased expression:serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5844 myocardial infarction ISO RGD:737492 D RGD:1582334|PMID:10486281 20061106 RGD 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:630 genetic disease ISO RGD:737492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737492 D RGD:40903002|PMID:24836184 20201222 RGD associated with hepatitis B;protein:decreased expression:serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737492 D RGD:1582334|PMID:10486281 20061106 RGD 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000039 Spinal Cord Injuries severity IEP D RGD:40907059|PMID:21559420 20210112 RGD protein:decreased expression:cerebrospinal fluid 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia ISO RGD:737492 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:14661079 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:737492 D RGD:1627650|PMID:14661079 20070821 RGD 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms IEP D RGD:10449102|PMID:25200834 20210112 RGD protein:increased expression:serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:737492 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9003219 Invasive Pulmonary Aspergillosis IEP D RGD:40903005|PMID:24360996 20201222 RGD protein:increased expression:respiratory system fluid/secretion, serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9005036 Bacteremia ISO RGD:737493 D RGD:40907057|PMID:33348064 20210112 RGD protein:increased expression:liver, serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737492 D RGD:40903002|PMID:24836184 20201222 RGD protein:increased expression:serum 70881 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9970 obesity IEP D RGD:11352709|PMID:22134356 20210112 RGD 70882 Nab1 Ngfi-A binding protein 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:736700 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 70882 Nab1 Ngfi-A binding protein 1 gene DOID:630 genetic disease ISO RGD:736700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70882 Nab1 Ngfi-A binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736700 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1354333 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1354333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:3883 Lynch syndrome ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1354333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1354333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1354333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:7240710 20200715 OMIM 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome PMID:25741868|PMID:32197074 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354333 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 70883 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9009183 Hypomyelinating Leukodystrophy 17 ISO RGD:1354333 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:7240710 20130221 OMIM 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:734923|PMID:10932183 20070404 RGD DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human) 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolcott-Rallison dysplasia PMID:10932183|PMID:11997520|PMID:12960215|PMID:16813601|PMID:19837917|PMID:25741868|PMID:26380986|PMID:28492532|PMID:31183082|PMID:31264968|PMID:7551159 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1838 Menkes disease ISO RGD:1354090 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:25741868 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:5453 pulmonary venoocclusive disease IEP D RGD:38549370|PMID:32209028 20200901 RGD protein:increased expression:lung 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:65 connective tissue disease ISO RGD:1354090 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:678 progressive supranuclear palsy ISO RGD:1354090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1354090 D RGD:32716425|PMID:26234401 20200630 RGD protein:hypophosphorylation:liver: 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9004009 Reperfusion Injury IDA D RGD:1581062|PMID:15936177 20150902 RGD protein:increased phosphorylation:kidney 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1354090 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis IEP D RGD:34888237|PMID:31007149 20200706 RGD mRNA,protein:increased expression:chondrocyte 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1354090 D RGD:32716425|PMID:26234401 20200630 RGD 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9351 diabetes mellitus ISO RGD:1354090 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 70884 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354090 D RGD:1601017|PMID:15483661 20070404 RGD DNA:polymorphism 70885 Dbn1 drebrin 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 70885 Dbn1 drebrin 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 70885 Dbn1 drebrin 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 70885 Dbn1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:732725 D RGD:10395286|PMID:8838578 20150828 RGD protein:decreased expression:hippocampal formation: 70885 Dbn1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:737436 D RGD:10398820|PMID:17912741 20150911 RGD protein:decreased expression:hippocampus,neuronal spine: 70885 Dbn1 drebrin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732725 D RGD:10398821|PMID:18338803 20150911 RGD mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: 70885 Dbn1 drebrin 1 gene DOID:11446 sciatic neuropathy IEP D RGD:10398813|PMID:11578820 20150910 RGD protein:increased expression:neuron: 70885 Dbn1 drebrin 1 gene DOID:14250 Down syndrome ISO RGD:732725 D RGD:10398822|PMID:12009525 20150911 RGD protein:decreased expression:frontal cortex, temporal cortex: 70885 Dbn1 drebrin 1 gene DOID:14330 Parkinson's disease treatment IEP D RGD:10398811|PMID:23241013 20150910 RGD levodopainduced; protein:increased expression:striatum: 70885 Dbn1 drebrin 1 gene DOID:1561 cognitive disorder IEP D RGD:10398818|PMID:21440628 20150910 RGD protein:increased expression:brain: 70885 Dbn1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:732725 D RGD:10398823|PMID:16783169 20150911 RGD protein:altered expression:superior temporal cortex, superior temporal cortex: 70885 Dbn1 drebrin 1 gene DOID:224 transient cerebral ischemia IEP D RGD:10398814|PMID:8583659 20150910 RGD 70885 Dbn1 drebrin 1 gene DOID:3328 temporal lobe epilepsy IEP D RGD:10398806|PMID:21240918 20150909 RGD mRNA,protein:altered expression:hippocampus: 70885 Dbn1 drebrin 1 gene DOID:630 genetic disease ISO RGD:732725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70885 Dbn1 drebrin 1 gene DOID:8927 learning disability ISO RGD:737436 D RGD:10398819|PMID:19837137 20150911 RGD 70885 Dbn1 drebrin 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732725 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 70885 Dbn1 drebrin 1 gene DOID:9008394 Drug-Induced Dyskinesia IEP D RGD:10398811|PMID:23241013 20150910 RGD levodopainduced; protein:increased expression:striatum: 70886 Kcnip1 potassium voltage-gated channel interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732298 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 70886 Kcnip1 potassium voltage-gated channel interacting protein 1 gene DOID:630 genetic disease ISO RGD:732298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70886 Kcnip1 potassium voltage-gated channel interacting protein 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:732298 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 70887 Kcnip2 potassium voltage-gated channel interacting protein 2 gene DOID:630 genetic disease ISO RGD:734096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70887 Kcnip2 potassium voltage-gated channel interacting protein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737095 D RGD:737786|PMID:11747815 19990101 RGD 70888 Kcnip3 potassium voltage-gated channel interacting protein 3 gene DOID:630 genetic disease ISO RGD:735835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:7240710 20200930 OMIM 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 90 PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:30058936|PMID:31012789|PMID:31456290 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:10584 retinitis pigmentosa ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:31456290 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:733177 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:733177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 70889 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:733177 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733484 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:733484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0080208 non-alcoholic fatty liver disease ISS RGD:736221 D RGD:13592920 20190124 MouseDO OMIM:613282 | OMIM:613387 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733484 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:10652 Alzheimer's disease ISO RGD:733484 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:25390692 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:12849 autistic disorder ISO RGD:733484 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733484 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:630 genetic disease ISO RGD:733484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:83 cataract ISO RGD:733484 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 70890 Pgrmc1 progesterone receptor membrane component 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733484 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 70891 Fgf8 fibroblast growth factor 8 gene DOID:0080201 Peters plus syndrome ISO RGD:733956 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:25741868|PMID:29584859 70891 Fgf8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:7240710 20190904 OMIM 70891 Fgf8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia PMID:17360555|PMID:18596921|PMID:20463092|PMID:21045958|PMID:21832120|PMID:23533228|PMID:25741868|PMID:26931467|PMID:28492532|PMID:29584859 70891 Fgf8 fibroblast growth factor 8 gene DOID:0110881 holoprosencephaly 1 ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:18596921|PMID:21045958|PMID:28492532 70891 Fgf8 fibroblast growth factor 8 gene DOID:10629 microphthalmia ISO RGD:733956 D RGD:11554173 20201217 CTD CTD Direct Evidence: therapeutic PMID:32472575 70891 Fgf8 fibroblast growth factor 8 gene DOID:10892 hypospadias IEP D RGD:2314151|PMID:19464577 20091103 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:10907 microcephaly ISO RGD:733956 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 70891 Fgf8 fibroblast growth factor 8 gene DOID:11132 prostatic hypertrophy ISO RGD:733956 D RGD:2289343|PMID:10343609 20080129 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:733956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16399080 70891 Fgf8 fibroblast growth factor 8 gene DOID:1612 breast cancer ISO RGD:733956 D RGD:2289344|PMID:10023681 20080129 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:1911 endodermal sinus tumor ISO RGD:733956 D RGD:2289339|PMID:11764380 20080129 RGD testicular germ cell neoplasms 70891 Fgf8 fibroblast growth factor 8 gene DOID:3308 embryonal carcinoma ISO RGD:733956 D RGD:2289339|PMID:11764380 20080129 RGD testicular germ cell neoplasms 70891 Fgf8 fibroblast growth factor 8 gene DOID:3594 choriocarcinoma ISO RGD:733956 D RGD:2289339|PMID:11764380 20080129 RGD testicular germ cell neoplasms 70891 Fgf8 fibroblast growth factor 8 gene DOID:3614 Kallmann syndrome ISO RGD:733956 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism 70891 Fgf8 fibroblast growth factor 8 gene DOID:4621 holoprosencephaly ISO RGD:733956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:20463092|PMID:22399515|PMID:25131394|PMID:25741868|PMID:26467025|PMID:26857713|PMID:26931467|PMID:27363716|PMID:28492532|PMID:29584859 70891 Fgf8 fibroblast growth factor 8 gene DOID:630 genetic disease ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70891 Fgf8 fibroblast growth factor 8 gene DOID:6419 tetralogy of Fallot ISS RGD:1553752 D RGD:13592920 20180518 MouseDO OMIM:187500 70891 Fgf8 fibroblast growth factor 8 gene DOID:674 cleft palate ISO RGD:733956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 70891 Fgf8 fibroblast growth factor 8 gene DOID:8634 prostate carcinoma in situ ISO RGD:733956 D RGD:2301097|PMID:12208767 20080926 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:733956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12223415 70891 Fgf8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733956 D RGD:2289340|PMID:11406643 20080129 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:2289338|PMID:12778074 20080129 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:2289343|PMID:10343609 20080129 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9002457 Experimental Arthritis IMP D RGD:2314157|PMID:18699993 20091103 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:733956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 70891 Fgf8 fibroblast growth factor 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733956 D RGD:2289342|PMID:11072239 20080129 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1553752 D RGD:2301098|PMID:9840935 20080926 RGD associated with Mammary Neoplasms, Experimental 70891 Fgf8 fibroblast growth factor 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553752 D RGD:2301098|PMID:9840935 20080926 RGD 70891 Fgf8 fibroblast growth factor 8 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 70891 Fgf8 fibroblast growth factor 8 gene DOID:9296 cleft lip ISO RGD:733956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 70892 Cdc5l cell division cycle 5-like gene DOID:0080205 CAKUT ISO RGD:731949 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 70892 Cdc5l cell division cycle 5-like gene DOID:3347 osteosarcoma ISO RGD:731949 D RGD:10047050|PMID:18567798 20150707 RGD DNA:amplification:cds (human) 70892 Cdc5l cell division cycle 5-like gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731949 D RGD:10047052|PMID:15725809 20150707 RGD protein:increased expression:esophageal mucosa (human) 70892 Cdc5l cell division cycle 5-like gene DOID:630 genetic disease ISO RGD:731949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70892 Cdc5l cell division cycle 5-like gene DOID:9005172 Lung Neoplasms ISO RGD:736292 D RGD:10047051|PMID:14647414 20150707 RGD mRNA:increased expression:lung (mouse) 70893 Gk glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:1601343|PMID:9719371 20070417 RGD DNA:deletion 70893 Gk glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:7240710 20150617 OMIM 70893 Gk glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of glycerol kinase PMID:10736265|PMID:10737976|PMID:25741868|PMID:8651297|PMID:9719371 70893 Gk glycerol kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344759 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70893 Gk glycerol kinase gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 70893 Gk glycerol kinase gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 70893 Gk glycerol kinase gene DOID:12849 autistic disorder ISO RGD:1344759 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70893 Gk glycerol kinase gene DOID:13810 familial hypercholesterolemia IDA D RGD:13702898|PMID:10642898 20180723 RGD 70893 Gk glycerol kinase gene DOID:630 genetic disease ISO RGD:1344759 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70893 Gk glycerol kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70893 Gk glycerol kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344759 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70893 Gk glycerol kinase gene DOID:9007102 Myocardial Ischemia ISO RGD:1344759 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 70893 Gk glycerol kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1344759 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 70893 Gk glycerol kinase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344759 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:1605748 D RGD:8554872 20181211 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:630 genetic disease ISO RGD:1605748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:9005369 Hepatomegaly ISO RGD:1605748 D RGD:11554173 20181211 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1605748 D RGD:8554872 20181211 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1605748 D RGD:11554173 20181211 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:9006599 Hypertriglyceridemia treatment IDA D RGD:13831127|PMID:23994635 20181217 RGD 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1617592 D RGD:13831128|PMID:23226270 20181217 RGD associated with type 2 diabetes mellitus 70894 Acot1 acyl-CoA thioesterase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1605748 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 70896 Ces1d carboxylesterase 1D gene DOID:0080600 COVID-19 ISO RGD:1352960 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70896 Ces1d carboxylesterase 1D gene DOID:10534 stomach cancer severity ISO RGD:1352960 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human) 70896 Ces1d carboxylesterase 1D gene DOID:2559 opiate dependence ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12679808 70896 Ces1d carboxylesterase 1D gene DOID:3119 gastrointestinal system cancer disease_progression ISO RGD:1352960 D RGD:152995283|PMID:33586000 20220613 RGD DNA:SNP:cds:rs7187684|rs2244613 (human) 70896 Ces1d carboxylesterase 1D gene DOID:3571 liver cancer treatment IEP D RGD:152995275|PMID:27523631 20220613 RGD 70896 Ces1d carboxylesterase 1D gene DOID:630 genetic disease ISO RGD:1352960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70896 Ces1d carboxylesterase 1D gene DOID:655 inherited metabolic disorder ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18485328 70896 Ces1d carboxylesterase 1D gene DOID:684 hepatocellular carcinoma ISO RGD:1352960 D RGD:152995276|PMID:24259486 20220613 RGD protein:decreased expression:liver (human) 70896 Ces1d carboxylesterase 1D gene DOID:684 hepatocellular carcinoma ISO RGD:1352960 D RGD:152995279|PMID:19658107 20220613 RGD mRNA, protein:decreased expression:liver tumor (human) 70896 Ces1d carboxylesterase 1D gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352960 D RGD:152995286|PMID:30901224 20220614 RGD associated with tumor vascularization; protein:decreased expression:liver tumor (human) 70896 Ces1d carboxylesterase 1D gene DOID:9000808 Hypercholesterolemia ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12773168 70896 Ces1d carboxylesterase 1D gene DOID:9000998 Brain Injuries ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 70896 Ces1d carboxylesterase 1D gene DOID:9002282 Monocyte Esterase Deficiency ISO RGD:1352960 D RGD:7240710 20141015 OMIM 70896 Ces1d carboxylesterase 1D gene DOID:9002282 Monocyte Esterase Deficiency ISO RGD:1352960 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED PMID:18485328|PMID:23111421|PMID:26817948|PMID:27614009 70896 Ces1d carboxylesterase 1D gene DOID:9005172 Lung Neoplasms ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802 70896 Ces1d carboxylesterase 1D gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:12679808|PMID:12773168 70896 Ces1d carboxylesterase 1D gene DOID:9256 colorectal cancer severity ISO RGD:1352960 D RGD:152995285|PMID:33878036 20220613 RGD associated with obesity;mRNA:increased expression:tumor (human) 70896 Ces1d carboxylesterase 1D gene DOID:9256 colorectal cancer treatment ISO RGD:1352960 D RGD:152995285|PMID:33878036 20220613 RGD human cells in mouse model 70896 Ces1d carboxylesterase 1D gene DOID:9970 obesity ISO RGD:1352960 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 70897 Ykt6 YKT6 v-SNARE homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735770 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 70897 Ykt6 YKT6 v-SNARE homolog gene DOID:630 genetic disease ISO RGD:735770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70898 Maged1 MAGE family member D1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736331 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70898 Maged1 MAGE family member D1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:736331 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 70898 Maged1 MAGE family member D1 gene DOID:12849 autistic disorder ISO RGD:736331 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70898 Maged1 MAGE family member D1 gene DOID:630 genetic disease ISO RGD:736331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70899 Maged2 MAGE family member D2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734427 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70899 Maged2 MAGE family member D2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:734427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 70899 Maged2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:7240710 20190315 OMIM 70899 Maged2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bartter disease type 5 PMID:25741868|PMID:27120771|PMID:28492532|PMID:29146702 70899 Maged2 MAGE family member D2 gene DOID:12849 autistic disorder ISO RGD:734427 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70899 Maged2 MAGE family member D2 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734427 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 70899 Maged2 MAGE family member D2 gene DOID:630 genetic disease ISO RGD:734427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:731061 D RGD:151665310|PMID:27602964 20220316 RGD Human cells in mouse model 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:3910 lung adenocarcinoma ISO RGD:731061 D RGD:151665316|PMID:18223678 20220317 RGD mRNA:decreased expression:lung (human) 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:5041 esophageal cancer ISO RGD:731061 D RGD:151665308|PMID:29890466 20220316 RGD protein:increased expression:esophagus(human) 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:535 sleep disorder ISO RGD:731061 D RGD:11554173 20191231 CTD CTD Direct Evidence: marker/mechanism 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:630 genetic disease ISO RGD:731061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:9005172 Lung Neoplasms ISO RGD:731061 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:7240710 20191225 OMIM 70900 Bhlhe41 basic helix-loop-helix family, member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 70901 Dnase2b deoxyribonuclease 2 beta gene DOID:630 genetic disease ISO RGD:1607010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70901 Dnase2b deoxyribonuclease 2 beta gene DOID:83 cataract ISS RGD:1332002 D RGD:13592920 20180518 MouseDO OMIM:601371 70902 Cntnap1 contactin associated protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734159 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 70902 Cntnap1 contactin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734159 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25326635|PMID:25741868|PMID:28374019|PMID:32214227 70902 Cntnap1 contactin associated protein 1 gene DOID:630 genetic disease ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27668699|PMID:28492532|PMID:29882456|PMID:31395954 70902 Cntnap1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:7240710 20170503 OMIM 70902 Cntnap1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:24319099|PMID:25741868|PMID:27668699|PMID:27818385|PMID:28254648|PMID:28374019|PMID:28492532|PMID:29882456|PMID:31395954|PMID:31397905 70902 Cntnap1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:7240710 20190315 OMIM 70902 Cntnap1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3 PMID:24319099|PMID:25326635|PMID:25741868|PMID:27668699|PMID:27782105|PMID:27818385|PMID:28374019|PMID:28492532|PMID:29511323|PMID:29882456|PMID:31395954|PMID:31397905|PMID:32214227 70903 Apoa5 apolipoprotein A5 gene DOID:0111123 nephronophthisis 15 ISO RGD:736192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 70903 Apoa5 apolipoprotein A5 gene DOID:0111421 familial apolipoprotein A5 deficiency ISO RGD:736192 D RGD:7240710 20230517 OMIM 70903 Apoa5 apolipoprotein A5 gene DOID:1059 intellectual disability ISO RGD:736192 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70903 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 70903 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:7240710 20230517 OMIM 70903 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia PMID:12417524|PMID:12417525|PMID:16200213|PMID:16806135|PMID:18324930|PMID:19447388|PMID:21993410|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:27578109|PMID:27678447|PMID:28492532|PMID:28951076|PMID:29954705|PMID:31619059|PMID:31980526|PMID:32041611|PMID:33111339|PMID:33462484 70903 Apoa5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:11554173 20190716 CTD CTD Direct Evidence: marker/mechanism 70903 Apoa5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:7240710 20230517 OMIM 70903 Apoa5 apolipoprotein A5 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:736192 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 70903 Apoa5 apolipoprotein A5 gene DOID:1459 hypothyroidism IEP D RGD:1601661|PMID:15941710 20090917 RGD protein:decreased expression:liver 70903 Apoa5 apolipoprotein A5 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16143024 70903 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 70903 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:2313322|PMID:15177130 20090917 RGD DNA:polymorphism:promoter:-1131T>C (human) 70903 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease no_association ISO RGD:736192 D RGD:1578412|PMID:15306190 19990101 RGD DNA:polymorphism:promoter:-1131T>C, c.56C>G (human) 70903 Apoa5 apolipoprotein A5 gene DOID:3526 cerebral infarction ISO RGD:736192 D RGD:2313314|PMID:19107359 20090917 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human) 70903 Apoa5 apolipoprotein A5 gene DOID:630 genetic disease ISO RGD:736192 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806135|PMID:28492532|PMID:30420299 70903 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:7240710 20230517 OMIM 70903 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia, familial PMID:11588264|PMID:12417524|PMID:12417525|PMID:12915450|PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24387992|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:33462484 70903 Apoa5 apolipoprotein A5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736192 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 70903 Apoa5 apolipoprotein A5 gene DOID:9004581 Pediatric Obesity ISO RGD:736192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 70903 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia IEP D RGD:2313328|PMID:16238453 20090917 RGD 70903 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20657596 70903 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:1578414|PMID:12818421 19990101 RGD 70903 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:2313317|PMID:18468520 20090917 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human) 70903 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611 70903 Apoa5 apolipoprotein A5 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736192 D RGD:2313315|PMID:18789138 20090917 RGD DNA:polymorphism: :p.S19W (human) 70903 Apoa5 apolipoprotein A5 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736192 D RGD:2313317|PMID:18468520 20090917 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) 70903 Apoa5 apolipoprotein A5 gene DOID:9007661 Dwarfism ISO RGD:736192 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 70903 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:2313318|PMID:17548321 20090917 RGD DNA:polymorphism: :-1131T>C (human) 70903 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:2313321|PMID:16039297 20090917 RGD 70903 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736192 D RGD:2313319|PMID:17087641 20090917 RGD DNA:polymorphism: :c.553G>T (human) 70903 Apoa5 apolipoprotein A5 gene DOID:9970 obesity ISO RGD:736192 D RGD:1331525|PMID:15118671 19990101 GAD 70904 Dgka diacylglycerol kinase, alpha gene DOID:630 genetic disease ISO RGD:732760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70905 Ccnc cyclin C gene DOID:630 genetic disease ISO RGD:736281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70905 Ccnc cyclin C gene DOID:9007730 Burns IEP D RGD:2315993|PMID:16271231 20141121 RGD protein:increased expression:skin 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735610 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10873396|PMID:14555765|PMID:15249368|PMID:15347646|PMID:16123401|PMID:18055820|PMID:20301475|PMID:22412862|PMID:23737531|PMID:25741868|PMID:26626312|PMID:28492532|PMID:29068479 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:7240710 20130425 OMIM 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:10873396|PMID:10927016|PMID:11139241|PMID:12573663|PMID:12881340|PMID:14555765|PMID:14611946|PMID:15024725|PMID:15249368|PMID:15347646|PMID:15469903|PMID:16052170|PMID:16123401|PMID:16199547|PMID:16205573|PMID:17576681|PMID:17964524|PMID:18055820|PMID:18408180|PMID:18682808|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20702822|PMID:21474771|PMID:21900377|PMID:22347407|PMID:22412862|PMID:23737531|PMID:24093488|PMID:24426771|PMID:25148430|PMID:25356976|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26047050|PMID:26306921|PMID:26626312|PMID:26650897|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29068479|PMID:29178642|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:30910914|PMID:32531858|PMID:33067476|PMID:33623043|PMID:9536098 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735610 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:735610 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 PMID:25741868 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:24426771|PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:0112232 lissencephaly 3 ISO RGD:735610 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:10873396|PMID:22412862|PMID:25741868|PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:735610 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16272259 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10873396|PMID:11139241|PMID:12881340|PMID:14611946|PMID:15249368|PMID:15469903|PMID:16052170|PMID:18408180|PMID:18682808|PMID:20301475|PMID:20683928|PMID:22412862|PMID:23737531|PMID:25741868|PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:733112|RGD:735610 D RGD:8696011|PMID:19710705 20140808 RGD 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:1432 blindness susceptibility ISO RGD:7356110 D RGD:1599003|PMID:10873396 20070111 RGD 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:733112 D RGD:8696012|PMID:24736053 20140808 RGD 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:735610 D RGD:70801|PMID:10615133 19990101 RGD DNA:nonsense mutation, deletion:exon:p.W278X (human) 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10615133|PMID:10873396|PMID:15024725|PMID:15249368|PMID:15347646|PMID:18408180|PMID:20079931|PMID:20301475|PMID:20702822|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26306921|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29641573|PMID:30718709|PMID:32531858|PMID:33067476 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:735610 D RGD:8696011|PMID:19710705 20140808 RGD 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:630 genetic disease ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:8501 fundus dystrophy ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10615133|PMID:10873396|PMID:15249368|PMID:15347646|PMID:20301475|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33067476 70906 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 gene DOID:9008296 Eye Abnormalities ISO RGD:735610 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 70907 Actn1 actinin, alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:7240710 20140903 OMIM 70907 Actn1 actinin, alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:26453073|PMID:26879394|PMID:28492532|PMID:28562514|PMID:30351444|PMID:31064749|PMID:31237726|PMID:31365757|PMID:32478077|PMID:32581362|PMID:34355501 70907 Actn1 actinin, alpha 1 gene DOID:1588 thrombocytopenia ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:28492532|PMID:30351444|PMID:31064749|PMID:31237726|PMID:32581362 70907 Actn1 actinin, alpha 1 gene DOID:2213 hemorrhagic disease ISO RGD:736411 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 70907 Actn1 actinin, alpha 1 gene DOID:630 genetic disease ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:28492532|PMID:30351444|PMID:31064749|PMID:32581362 70907 Actn1 actinin, alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70908 Crot carnitine O-octanoyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732197 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 70908 Crot carnitine O-octanoyltransferase gene DOID:630 genetic disease ISO RGD:732197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70908 Crot carnitine O-octanoyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732197 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70908 Crot carnitine O-octanoyltransferase gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:1599987|PMID:14618266 20081013 RGD mRNA:increased expression:heart left ventricle, cardiac muscle cell 70909 Hgfac HGF activator gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1350664 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 70909 Hgfac HGF activator gene DOID:1856 cherubism ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 70909 Hgfac HGF activator gene DOID:630 genetic disease ISO RGD:1350664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70909 Hgfac HGF activator gene DOID:684 hepatocellular carcinoma ISO RGD:1350664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 70909 Hgfac HGF activator gene DOID:8778 Crohn's disease ISO RGD:1350664 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 70910 Gmfb glia maturation factor, beta gene DOID:0090043 dystonia 5 ISO RGD:735553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 70910 Gmfb glia maturation factor, beta gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:735553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 70910 Gmfb glia maturation factor, beta gene DOID:630 genetic disease ISO RGD:735553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70911 Acvr2a activin A receptor type 2A gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:731811 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 70911 Acvr2a activin A receptor type 2A gene DOID:1793 pancreatic cancer ISO RGD:731811 D RGD:2317217|PMID:9714055 20100527 RGD 70911 Acvr2a activin A receptor type 2A gene DOID:219 colon cancer ISO RGD:731811 D RGD:2301065|PMID:14988818 20080924 RGD 70911 Acvr2a activin A receptor type 2A gene DOID:3883 Lynch syndrome ISO RGD:731811 D RGD:153297765|PMID:28218421 20220721 RGD DNA:mutations:cds: (human) 70911 Acvr2a activin A receptor type 2A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISS RGD:1550139 D RGD:13592920 20180518 MouseDO OMIM:261800 70911 Acvr2a activin A receptor type 2A gene DOID:630 genetic disease ISO RGD:731811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70911 Acvr2a activin A receptor type 2A gene DOID:9000027 Microsatellite Instability ISO RGD:731811 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 70911 Acvr2a activin A receptor type 2A gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:731811 D RGD:151361136|PMID:30310521 20220224 RGD associated with colon cancer;mRNA,protein:decreased expression:colon (human) 70911 Acvr2a activin A receptor type 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731811 D RGD:2301061|PMID:16337854 20080924 RGD 70911 Acvr2a activin A receptor type 2A gene DOID:9008763 Femoral Fractures IEP D RGD:2325239|PMID:9076583 20100527 RGD 70912 P2ry14 purinergic receptor P2Y14 gene DOID:0050579 glycogen storage disease XV ISO RGD:1347256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 70912 P2ry14 purinergic receptor P2Y14 gene DOID:0080600 COVID-19 ISO RGD:1347256 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 70912 P2ry14 purinergic receptor P2Y14 gene DOID:630 genetic disease ISO RGD:1347256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:734363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:734363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:0111546 Currarino syndrome ISO RGD:734363 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:1793 pancreatic cancer ISO RGD:734363 D RGD:2325200|PMID:15688370 20100525 RGD mRNA:increased expression:pancreas 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:630 genetic disease ISO RGD:734363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:734363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:9004009 Reperfusion Injury IEP D RGD:2301088|PMID:16997484 20080925 RGD mRNA, protein:increased expression:brain, neuron 70913 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:731772 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:1059 intellectual disability ISO RGD:731772 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:12704 ataxia telangiectasia ISO RGD:731772 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:630 genetic disease ISO RGD:731772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731772 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 70914 Hspb2 heat shock protein family B (small) member 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0050663 Bethlem myopathy ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:733688 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0110266 cataract 9 multiple types ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:7240710 20130221 OMIM 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:12815595|PMID:17576681|PMID:18414213|PMID:23757202|PMID:24801232|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726|PMID:31589614|PMID:9536098 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:1059 intellectual disability ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633545|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:12849 autistic disorder ISO RGD:733688 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:2661 myoepithelioma ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:630 genetic disease ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12815595|PMID:23757202|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:8584 Burkitt lymphoma ISO RGD:733688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:891 progressive myoclonus epilepsy ISO RGD:733688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:733688 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9263 homocystinuria ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 70915 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9562 primary ciliary dyskinesia ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:10579 leukodystrophy ISO RGD:1605117 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:30620337|PMID:31186544 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605117 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:630 genetic disease ISO RGD:1605117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30620337 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:9000521 Hypomyelinating Leukodystrophy 18 ISO RGD:1605117 D RGD:7240710 20190515 OMIM 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:9000521 Hypomyelinating Leukodystrophy 18 ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 PMID:25741868|PMID:30620337|PMID:30620338|PMID:31186544 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 70917 Degs1 delta(4)-desaturase, sphingolipid 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605117 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 70918 Klf15 KLF transcription factor 15 gene DOID:12932 endomyocardial fibrosis ISO RGD:737261 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34310909 70918 Klf15 KLF transcription factor 15 gene DOID:3627 aortic aneurysm ISS RGD:737262 D RGD:13592920 20180518 MouseDO 70918 Klf15 KLF transcription factor 15 gene DOID:630 genetic disease ISO RGD:737261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70918 Klf15 KLF transcription factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 70918 Klf15 KLF transcription factor 15 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737261 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 70918 Klf15 KLF transcription factor 15 gene DOID:9270 alkaptonuria ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 70919 Clta clathrin, light chain A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 70919 Clta clathrin, light chain A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 70919 Clta clathrin, light chain A gene DOID:0080600 COVID-19 ISO RGD:733774 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70919 Clta clathrin, light chain A gene DOID:0080942 anauxetic dysplasia ISO RGD:733774 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 70919 Clta clathrin, light chain A gene DOID:0111065 distal spinal muscular atrophy 2 ISO RGD:733774 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 70919 Clta clathrin, light chain A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733774 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 70919 Clta clathrin, light chain A gene DOID:630 genetic disease ISO RGD:733774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70919 Clta clathrin, light chain A gene DOID:9003727 Hyperphosphatasia with Mental Retardation Syndrome 2 ISO RGD:733774 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 70919 Clta clathrin, light chain A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 70919 Clta clathrin, light chain A gene DOID:9870 galactosemia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0050451 Brugada syndrome ISO RGD:733435 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0060320 inguinal hernia ISO RGD:733435 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM PMID:25326637|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080006 bone development disease ISO RGD:733435 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080333 aortic valve disease 1 ISO RGD:733435 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868|PMID:28492532|PMID:30858776|PMID:31903434 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8752669|PMID:9042913 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:25741868|PMID:28492532|PMID:32720758|PMID:32938213|PMID:33161638 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0081097 Rafiq syndrome ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type PMID:25326637|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis PMID:25326637|PMID:25741868|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:733435 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 70920 Col5a1 collagen type V alpha 1 chain gene DOID:11836 clubfoot ISO RGD:733435 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 70920 Col5a1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:1581210|PMID:12145749 19990101 RGD 70920 Col5a1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:1581211|PMID:11278977 19990101 RGD 70920 Col5a1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:1581212|PMID:10777716 19990101 RGD 70920 Col5a1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:734808|PMID:8752669 19990101 RGD DNA:repeat:intron:IVS17 (human) 70920 Col5a1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10471441|PMID:10602121|PMID:10777716|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16199547|PMID:16431952|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:32938213|PMID:33206719 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8752669|PMID:9042913|PMID:20635400 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:7240710 20180711 OMIM 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 70920 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16431952|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:21611149|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26188975|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28485813|PMID:28492532|PMID:28550590|PMID:28714197|PMID:28748566|PMID:29578302|PMID:29907982|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31625567|PMID:31660461|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32766464|PMID:32938213|PMID:33161638|PMID:33206719|PMID:33656776|PMID:33834621|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 70920 Col5a1 collagen type V alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:29924831|PMID:31064749|PMID:32938213 70920 Col5a1 collagen type V alpha 1 chain gene DOID:305 carcinoma ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 70920 Col5a1 collagen type V alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:733435 D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Aortic dilatation 70920 Col5a1 collagen type V alpha 1 chain gene DOID:3652 Leigh disease ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:630 genetic disease ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10602121|PMID:10946364|PMID:11992482|PMID:15580559|PMID:17576681|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:25741868|PMID:27975164|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31903434|PMID:9536098 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9000058 Keloid ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9000348 Confusion ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Confusion PMID:25741868|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9001752 Shoulder Dislocation ISO RGD:733435 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Shoulder subluxation 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:733435 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:733435 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:7240710 20210526 OMIM 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24951259|PMID:25741868|PMID:26608033|PMID:27975164|PMID:28492532|PMID:29578302|PMID:32938213 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:733435 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9007096 Stroke ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:19344236|PMID:22696272|PMID:23587214|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237 70920 Col5a1 collagen type V alpha 1 chain gene DOID:9008810 Spontaneous Rupture ISO RGD:733435 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20635400 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:736788 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:7240710 20190315 OMIM 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:11940702|PMID:17576681|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:30467950|PMID:31829210|PMID:31903434|PMID:33161638|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25326637|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:736788 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 70921 Col5a2 collagen type V alpha 2 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:736788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736788 D RGD:734809|PMID:9425231 20070323 RGD EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions 70921 Col5a2 collagen type V alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11940702|PMID:17576681|PMID:25741868|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:28132693|PMID:28166811|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:31903434|PMID:9425231|PMID:9536098|PMID:9783710 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 70921 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISS RGD:736789 D RGD:13592920 20190321 MouseDO OMIM:130000 70921 Col5a2 collagen type V alpha 2 chain gene DOID:1588 thrombocytopenia ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:1882 atrial heart septal defect ISO RGD:736788 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 70921 Col5a2 collagen type V alpha 2 chain gene DOID:2213 hemorrhagic disease ISO RGD:736788 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:736788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 70921 Col5a2 collagen type V alpha 2 chain gene DOID:520 aortic disease ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:630 genetic disease ISO RGD:736788 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:25741868|PMID:28087566|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:736788 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9003591 Telecanthus ISO RGD:736788 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736788 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:736788 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 70921 Col5a2 collagen type V alpha 2 chain gene DOID:9008296 Eye Abnormalities ISO RGD:736788 D RGD:1600694|PMID:16431952 20070323 RGD DNA:splicing error 70922 Col5a3 collagen type V alpha 3 chain gene DOID:10126 keratoconus ISO RGD:736080 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus 70922 Col5a3 collagen type V alpha 3 chain gene DOID:12849 autistic disorder ISO RGD:736080 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70922 Col5a3 collagen type V alpha 3 chain gene DOID:630 genetic disease ISO RGD:736080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70922 Col5a3 collagen type V alpha 3 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:736080 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 70923 Ddx39b DExD-box helicase 39B gene DOID:0050553 JMP syndrome ISO RGD:737407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 70923 Ddx39b DExD-box helicase 39B gene DOID:11372 megacolon ISO RGD:737407 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 70923 Ddx39b DExD-box helicase 39B gene DOID:630 genetic disease ISO RGD:737407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70923 Ddx39b DExD-box helicase 39B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70923 Ddx39b DExD-box helicase 39B gene DOID:9744 type 1 diabetes mellitus ISO RGD:737407 D RGD:13702905|PMID:11756005 20150513 RGD 70924 Pdzk1 PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 70924 Pdzk1 PDZ domain containing 1 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732823 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 70924 Pdzk1 PDZ domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732823 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 70924 Pdzk1 PDZ domain containing 1 gene DOID:5419 schizophrenia ISO RGD:732823 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70924 Pdzk1 PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:732823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70924 Pdzk1 PDZ domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 70924 Pdzk1 PDZ domain containing 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 70924 Pdzk1 PDZ domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732823 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 70924 Pdzk1 PDZ domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732823 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 70925 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:1059 intellectual disability ISO RGD:1603637 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 70925 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:1603637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70925 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603637 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70926 Cyp4f1 cytochrome P450, family 4, subfamily f, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351749 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 70926 Cyp4f1 cytochrome P450, family 4, subfamily f, polypeptide 1 gene DOID:10763 hypertension IEP D RGD:2301709|PMID:16182239 20081029 RGD mRNA:increased expression:kidney 70926 Cyp4f1 cytochrome P450, family 4, subfamily f, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1351749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70926 Cyp4f1 cytochrome P450, family 4, subfamily f, polypeptide 1 gene DOID:9000998 Brain Injuries IEP D RGD:2301705|PMID:18847377 20081029 RGD 70927 Mgst1 microsomal glutathione S-transferase 1 gene DOID:0080600 COVID-19 ISO RGD:737343 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70927 Mgst1 microsomal glutathione S-transferase 1 gene DOID:1289 neurodegenerative disease ISO RGD:737343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 70927 Mgst1 microsomal glutathione S-transferase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 70927 Mgst1 microsomal glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70928 Kif1c kinesin family member 1C gene DOID:0050753 cerebellar ataxia ISO RGD:731799 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:32581362 70928 Kif1c kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:7240710 20141216 OMIM 70928 Kif1c kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:17273843|PMID:17576681|PMID:24319291|PMID:24482476|PMID:24808017|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28687974|PMID:28832565|PMID:29482223|PMID:30067756|PMID:32501971|PMID:9536098 70928 Kif1c kinesin family member 1C gene DOID:0050952 spastic ataxia ISO RGD:731799 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Spastic ataxia 70928 Kif1c kinesin family member 1C gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:731799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 70928 Kif1c kinesin family member 1C gene DOID:1059 intellectual disability ISO RGD:731799 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 70928 Kif1c kinesin family member 1C gene DOID:10907 microcephaly ISO RGD:731799 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 70928 Kif1c kinesin family member 1C gene DOID:2476 hereditary spastic paraplegia ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:24482476|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29482223|PMID:9536098 70928 Kif1c kinesin family member 1C gene DOID:630 genetic disease ISO RGD:731799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70929 Dgkz diacylglycerol kinase zeta gene DOID:0050444 infantile Refsum disease ISO RGD:733860 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 70929 Dgkz diacylglycerol kinase zeta gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 70929 Dgkz diacylglycerol kinase zeta gene DOID:1059 intellectual disability ISO RGD:733860 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70929 Dgkz diacylglycerol kinase zeta gene DOID:5844 myocardial infarction ISO RGD:733860 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17071729 70929 Dgkz diacylglycerol kinase zeta gene DOID:630 genetic disease ISO RGD:733860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70929 Dgkz diacylglycerol kinase zeta gene DOID:9002669 Hypoxia IEP D RGD:9590077|PMID:24893663 20141112 RGD protein:decreased dimerization:hippocampus (rat) 70929 Dgkz diacylglycerol kinase zeta gene DOID:9008086 Developmental Disabilities ISO RGD:733860 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay 70929 Dgkz diacylglycerol kinase zeta gene DOID:905 Zellweger syndrome ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 70930 Kiss1r KISS1 receptor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731975 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 70930 Kiss1r KISS1 receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 70930 Kiss1r KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:7240710 20140903 OMIM 70930 Kiss1r KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia PMID:12788881|PMID:12944565|PMID:14573733|PMID:17164310|PMID:18772143|PMID:20371656|PMID:23349759|PMID:23643382|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31073722 70930 Kiss1r KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:7240710 20130221 OMIM 70930 Kiss1r KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 1 PMID:17164310|PMID:18272894|PMID:23349759|PMID:25741868|PMID:26467025|PMID:28492532 70930 Kiss1r KISS1 receptor gene DOID:11383 cryptorchidism ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:15598687|PMID:28492532|PMID:29452377 70930 Kiss1r KISS1 receptor gene DOID:1612 breast cancer severity ISO RGD:731975 D RGD:2292123|PMID:17914099 20080410 RGD 70930 Kiss1r KISS1 receptor gene DOID:1921 Klinefelter syndrome ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 70930 Kiss1r KISS1 receptor gene DOID:1924 hypogonadism ISO RGD:731975 D RGD:1599279|PMID:12944565 20070129 RGD Hypogonadotropic hypogonadism, OMIM:146110 70930 Kiss1r KISS1 receptor gene DOID:2671 transitional cell carcinoma severity ISO RGD:731975 D RGD:2292127|PMID:17164231 20080410 RGD 70930 Kiss1r KISS1 receptor gene DOID:3113 papillary carcinoma ISO RGD:731975 D RGD:1599280|PMID:11994395 20070129 RGD 70930 Kiss1r KISS1 receptor gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:731975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 70930 Kiss1r KISS1 receptor gene DOID:5339 cyclic hematopoiesis ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 70930 Kiss1r KISS1 receptor gene DOID:630 genetic disease ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70930 Kiss1r KISS1 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 70930 Kiss1r KISS1 receptor gene DOID:9001239 Delayed Puberty ISO RGD:731975 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 70930 Kiss1r KISS1 receptor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:731975 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 70930 Kiss1r KISS1 receptor gene DOID:9007284 Precocious Puberty ISO RGD:731975 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism 70931 Cpn1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:7240710 20130731 OMIM 70931 Cpn1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency PMID:12560874|PMID:24033266|PMID:7437116 70931 Cpn1 carboxypeptidase N subunit 1 gene DOID:630 genetic disease ISO RGD:734334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70932 Mvp major vault protein gene DOID:0060019 coronin-1A deficiency ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 70932 Mvp major vault protein gene DOID:0060041 autism spectrum disorder ISO RGD:732476 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 70932 Mvp major vault protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:732476 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 70932 Mvp major vault protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732476 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 70932 Mvp major vault protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 70932 Mvp major vault protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732476 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 70932 Mvp major vault protein gene DOID:12849 autistic disorder ISO RGD:732476 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70932 Mvp major vault protein gene DOID:1882 atrial heart septal defect ISO RGD:732476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 70932 Mvp major vault protein gene DOID:5419 schizophrenia ISO RGD:732476 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70932 Mvp major vault protein gene DOID:630 genetic disease ISO RGD:732476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70932 Mvp major vault protein gene DOID:8398 osteoarthritis ISO RGD:732476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 70932 Mvp major vault protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732476 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70932 Mvp major vault protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732476 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70932 Mvp major vault protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 70932 Mvp major vault protein gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:732476 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 70932 Mvp major vault protein gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:732476 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial PMID:25741868 70933 Pde6h phosphodiesterase 6H gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 70933 Pde6h phosphodiesterase 6H gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1353241 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 70933 Pde6h phosphodiesterase 6H gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 70933 Pde6h phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:7240710 20130221 OMIM 70933 Pde6h phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837|PMID:22901948|PMID:25741868|PMID:27472364|PMID:28492532 70933 Pde6h phosphodiesterase 6H gene DOID:13399 color blindness ISO RGD:1353241 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25739440 70933 Pde6h phosphodiesterase 6H gene DOID:630 genetic disease ISO RGD:1353241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70934 Klf9 KLF transcription factor 9 gene DOID:289 endometriosis ISO RGD:1350312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 70934 Klf9 KLF transcription factor 9 gene DOID:50 thyroid gland disease ISO RGD:1350312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 70934 Klf9 KLF transcription factor 9 gene DOID:630 genetic disease ISO RGD:1350312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70934 Klf9 KLF transcription factor 9 gene DOID:9007633 Body Weight ISO RGD:1350312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 70934 Klf9 KLF transcription factor 9 gene DOID:9775 diastolic heart failure ISO RGD:1350312 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:0060250 idiopathic scoliosis ISS RGD:737210 D RGD:13592920 20220609 MouseDO 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:7240710 20190911 OMIM 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type PMID:25741868|PMID:28492532|PMID:30046013|PMID:30099045|PMID:32064983 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732575 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:630 genetic disease ISO RGD:732575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732575 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 70935 Mbtps1 membrane-bound transcription factor peptidase, site 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0001816 angiosarcoma ISO RGD:736032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0060680 pigment dispersion syndrome ISS RGD:736033 D RGD:13592920 20180518 MouseDO OMIM:600510 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0080600 COVID-19 ISO RGD:736032 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736032 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:10584 retinitis pigmentosa ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:736032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:10808 gastric ulcer IEP D RGD:1600910|PMID:11353854 20070330 RGD Protein:decreased expression:serum 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:736032 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1289 neurodegenerative disease ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31623504 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1405 primary angle-closure glaucoma ISO RGD:736032 D RGD:7240710 20200715 OMIM 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:182 calcinosis ISO RGD:736032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1826 epilepsy ISO RGD:736032 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:736032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:4448 macular degeneration ISO RGD:736032 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28714951|PMID:29738522|PMID:9536098 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:684 hepatocellular carcinoma severity IDA D RGD:1600906|PMID:15739185 20070330 RGD Protein:increased expression 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:83 cataract ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:16199547|PMID:19390655|PMID:25456301|PMID:28492532 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32581362 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:8577 ulcerative colitis IEP D RGD:1600887|PMID:17011522 20070329 RGD Protein:increased expression:large intestine mucosa 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:736032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9000784 Fibrosis IEP D RGD:632362|PMID:11592600 20070330 RGD mRNA:increased expression:liver 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002033 Knobloch Syndrome ISO RGD:736032 D RGD:11554173 20220802 CTD CTD Direct Evidence: marker/mechanism 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002033 Knobloch Syndrome ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:10942434|PMID:12415512|PMID:14695535|PMID:1554013|PMID:16199547|PMID:17546652|PMID:17576681|PMID:17975799|PMID:19160445|PMID:19390655|PMID:20799329|PMID:20979194|PMID:21862674|PMID:21937992|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31415705|PMID:32581362|PMID:32860008|PMID:9536098 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:736032 D RGD:1600885|PMID:12415512 20070329 RGD Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:7240710 20220727 OMIM 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:23667181|PMID:25456301|PMID:25741868|PMID:27259167|PMID:28144890|PMID:28492532|PMID:31415705 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002928 Colonic Neoplasms severity IDA D RGD:1600901|PMID:16437622 20070330 RGD 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736032 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms severity IDA D RGD:70690|PMID:10766159 20070330 RGD 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 70936 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:733615 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:733615 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:630 genetic disease ISO RGD:733615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:905 Zellweger syndrome ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:7240710 20130221 OMIM 70937 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:10700186 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:1205 allergic disease ISO RGD:735921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735921 D RGD:5128618|PMID:16734609 20110314 RGD protein:decreased expression:blood, eosinophil 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:5128614|PMID:20592918 20110314 RGD DNA:SNP: :c.25091G>A (human) 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:5128623|PMID:10224351 20110314 RGD 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:5128625|PMID:20513521 20110314 RGD 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:5128626|PMID:16217591 20110314 RGD DNA:SNPs (human) 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735922 D RGD:5128617|PMID:17276963 20110314 RGD 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735922 D RGD:5128627|PMID:10848907 20110314 RGD 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735921 D RGD:5128619|PMID:15286446 20110314 RGD protein:increased expression:serum 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:350 mastocytosis ISO RGD:735921 D RGD:11354970|PMID:21762978 20160801 RGD 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:552 pneumonia ISO RGD:735921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:9001371 Eosinophilia ISO RGD:735921 D RGD:11354970|PMID:21762978 20160801 RGD 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:9001472 Nasal Polyps ISO RGD:735921 D RGD:5128621|PMID:12752323 20110314 RGD protein:increased expression:nasal mucus, serum 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 70938 Il5ra interleukin 5 receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735921 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70939 Gpr6 G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:737528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70940 Rida reactive intermediate imine deaminase A homolog gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:9685568|PMID:23075396 20150120 RGD 70940 Rida reactive intermediate imine deaminase A homolog gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:9685719|PMID:12939504 20150122 RGD protein:increased expression:liver (rat) 70940 Rida reactive intermediate imine deaminase A homolog gene DOID:9004590 Acute Liver Failure ISO RGD:1343199 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 70941 Dbnl drebrin-like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606301 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 70941 Dbnl drebrin-like gene DOID:630 genetic disease ISO RGD:1606301 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70941 Dbnl drebrin-like gene DOID:9000884 Rhabdomyolysis ISO RGD:1606301 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 70941 Dbnl drebrin-like gene DOID:9005787 Dimauro Disease ISO RGD:1606301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:6308514|PMID:8447317|PMID:9536098 70942 Cd164 CD164 molecule gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:736961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 70942 Cd164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:7240710 20190315 OMIM 70942 Cd164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 66 PMID:26197441 70942 Cd164 CD164 molecule gene DOID:1324 lung cancer exacerbates ISO RGD:736961 D RGD:11555304|PMID:28903328 20211120 RGD protein:increased expression:lung (human) 70942 Cd164 CD164 molecule gene DOID:630 genetic disease ISO RGD:736961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70942 Cd164 CD164 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:736961 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 70943 Mrpl17 mitochondrial ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1351017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70944 Cplx1 complexin 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:735999 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 70944 Cplx1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:7240710 20190315 OMIM 70944 Cplx1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63 PMID:25741868|PMID:26539891|PMID:28422131|PMID:28492532 70944 Cplx1 complexin 1 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:735999 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868 70944 Cplx1 complexin 1 gene DOID:11832 visual epilepsy ISO RGD:733328 D RGD:734813|PMID:11163241 19990101 RGD 70944 Cplx1 complexin 1 gene DOID:1856 cherubism ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 70944 Cplx1 complexin 1 gene DOID:2468 psychotic disorder ISO RGD:735999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 70944 Cplx1 complexin 1 gene DOID:3312 bipolar disorder ISO RGD:735999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 70944 Cplx1 complexin 1 gene DOID:5419 schizophrenia ISO RGD:735999 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 70944 Cplx1 complexin 1 gene DOID:630 genetic disease ISO RGD:735999 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70944 Cplx1 complexin 1 gene DOID:9000495 Tremor IMP D RGD:127285808|PMID:31875236 20210701 RGD 70944 Cplx1 complexin 1 gene DOID:9004866 Ataxia IMP D RGD:127285808|PMID:31875236 20210701 RGD 70944 Cplx1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:733328 D RGD:734813|PMID:11163241 19990101 RGD 70944 Cplx1 complexin 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:735999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 70945 Cplx2 complexin 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 70945 Cplx2 complexin 2 gene DOID:0112103 Sotos syndrome 1 ISO RGD:732283 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 70945 Cplx2 complexin 2 gene DOID:2468 psychotic disorder ISO RGD:732283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 70945 Cplx2 complexin 2 gene DOID:3312 bipolar disorder ISO RGD:732283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 70945 Cplx2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732283 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11483314|PMID:14708030 70946 Pip prolactin induced protein gene DOID:0050127 sinusitis ISO RGD:1351325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 70946 Pip prolactin induced protein gene DOID:630 genetic disease ISO RGD:1351325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70947 Grpel1 GrpE-like 1, mitochondrial gene DOID:3525 middle cerebral artery infarction IEP D RGD:632868|PMID:12505684 20171130 RGD mRNA:increased expression:cerebral cortex 70947 Grpel1 GrpE-like 1, mitochondrial gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345534 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 70947 Grpel1 GrpE-like 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1345534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:733295 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11536077|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30289319 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050795 cone dystrophy ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:18521937|PMID:25741868|PMID:26493561|PMID:28041643|PMID:28492532|PMID:30289319 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:7240710 20130221 OMIM 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2 PMID:11536077|PMID:14715947|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16199547|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21268679|PMID:21778272|PMID:21901789|PMID:21912902|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25052312|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26106334|PMID:26355662|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29099798|PMID:29165669|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32783370|PMID:32913385|PMID:33546218|PMID:9536098|PMID:9662398 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13399 color blindness ISO RGD:733295 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30418171 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13399 color blindness ISO RGD:733295 D RGD:734792|PMID:11536077 19990101 RGD 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13399 color blindness ISO RGD:733295 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:11536077|PMID:17693388|PMID:20238023|PMID:25741868|PMID:26992781|PMID:28492532 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13911 achromatopsia ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:11536077|PMID:14757870|PMID:15712225|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21778272|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24903488|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26992781|PMID:27820752|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29618791|PMID:30418171|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32913385|PMID:9536098|PMID:9662398 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:4448 macular degeneration ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11536077|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:630 genetic disease ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11536077|PMID:17265047|PMID:17693388|PMID:18521937|PMID:23972307|PMID:24033266|PMID:24504161|PMID:24903488|PMID:25616768|PMID:28492532|PMID:29618791|PMID:31456290|PMID:9662398 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:8501 fundus dystrophy ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20088482|PMID:20238023|PMID:20506298|PMID:21268679|PMID:21778272|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25168900|PMID:25283059|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:33546218|PMID:9662398 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:733295 D RGD:9068452|PMID:18521937 20140819 RGD DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) 70948 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9008296 Eye Abnormalities ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536077|PMID:15743887|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733842 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:10283 prostate cancer ISO RGD:733842 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:733842 D RGD:6482238|PMID:21220737 20120420 RGD mRNA:increased expression:temporal artery 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:4621 holoprosencephaly ISO RGD:733842 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:733842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31353024 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:7240710 20200115 OMIM 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures PMID:16718694|PMID:21714819|PMID:25741868|PMID:28492532|PMID:31353024 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733843 D RGD:6482235|PMID:17947672 20120420 RGD 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733842 D RGD:6482236|PMID:17114010 20120420 RGD mRNA,protein:increased expression:pancreas 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 70949 Dll1 delta like canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733842 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733583 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:733583 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:733583 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:12849 autistic disorder ISO RGD:733583 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:630 genetic disease ISO RGD:733583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:684 hepatocellular carcinoma ISO RGD:733583 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733583 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:9007661 Dwarfism ISO RGD:733583 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:733583 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 70950 Srpx sushi-repeat-containing protein, X-linked gene DOID:9562 primary ciliary dyskinesia ISO RGD:733583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 70951 Glrx glutaredoxin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 70951 Glrx glutaredoxin gene DOID:0080600 COVID-19 ISO RGD:736383 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70951 Glrx glutaredoxin gene DOID:224 transient cerebral ischemia IEP D RGD:9686043|PMID:10329397 20150128 RGD mRNA,protein:decreased expression:brain: 70951 Glrx glutaredoxin gene DOID:630 genetic disease ISO RGD:736383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70951 Glrx glutaredoxin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736383 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70951 Glrx glutaredoxin gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:9686046|PMID:17324929 20150128 RGD protein:increase activity:retina: 70951 Glrx glutaredoxin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 70951 Glrx glutaredoxin gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2306160|PMID:18163565 20150129 RGD mRNA:decreased expression:heart: 70951 Glrx glutaredoxin gene DOID:9970 obesity IEP D RGD:9686064|PMID:23404913 20150129 RGD protein:increased expression:renal visceral adipose: 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345331 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:0080600 COVID-19 ISO RGD:1345331 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1345331 D RGD:5490514|PMID:15917099 20110914 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1345331 D RGD:1358651|PMID:14570706 19990101 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345331 D RGD:5490521|PMID:20818931 20110915 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:1240 leukemia ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22293942 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:1289 neurodegenerative disease ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:14330 Parkinson's disease onset ISO RGD:1345331 D RGD:1358651|PMID:14570706 19990101 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345331 D RGD:5490299|PMID:17194543 20110913 RGD DNA:polymorphism:exon:p. A140D (rs4925) (human) 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21899313 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:37 skin disease ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345331 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:630 genetic disease ISO RGD:1345331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:850 lung disease ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22293942 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345331 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 70952 Gsto1 glutathione S-transferase omega 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1345331 D RGD:5491008|PMID:21410266 20110927 RGD protein:decreased expression;T lymphocyte: 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:0050568 spondylocostal dysostosis ISO RGD:735462 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:0050568 spondylocostal dysostosis ISS RGD:735462 D RGD:13592920 20180518 MouseDO OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:0060249 scoliosis ISO RGD:735462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:7240710 20180704 OMIM 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:10742114|PMID:12746394|PMID:12791036|PMID:15200511|PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:2805381|PMID:28492532|PMID:29459493 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:11193 syndactyly ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:28492532|PMID:29459493 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:1934 dysostosis ISO RGD:735462 D RGD:1599775|PMID:10742114 20070214 RGD DNA:nonsense mutations, missense mutation 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:2256 osteochondrodysplasia ISO RGD:735462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11146471 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:2340 craniosynostosis ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:3069 malignant astrocytoma ISO RGD:735462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:630 genetic disease ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9005835 Congenital Abnormalities ISO RGD:735462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:735462 D RGD:11554173 20180710 CTD CTD Direct Evidence: marker/mechanism 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:735462 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9269 maple syrup urine disease ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 70953 Dll3 delta like canonical Notch ligand 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 70954 Ceacam9 CEA cell adhesion molecule 9 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 70954 Ceacam9 CEA cell adhesion molecule 9 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 70954 Ceacam9 CEA cell adhesion molecule 9 gene DOID:2340 craniosynostosis ISO RGD:1605603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 70954 Ceacam9 CEA cell adhesion molecule 9 gene DOID:630 genetic disease ISO RGD:1605603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70954 Ceacam9 CEA cell adhesion molecule 9 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 70954 Ceacam9 CEA cell adhesion molecule 9 gene DOID:9269 maple syrup urine disease ISO RGD:1605603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 70955 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:735674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 70955 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:735674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 70955 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0111546 Currarino syndrome ISO RGD:735674 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 70955 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:735674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70956 Tinagl1 tubulointerstitial nephritis antigen-like 1 gene DOID:630 genetic disease ISO RGD:1352792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70957 Epha7 Eph receptor A7 gene DOID:5409 lung small cell carcinoma ISO RGD:732959 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 70957 Epha7 Eph receptor A7 gene DOID:630 genetic disease ISO RGD:732959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70957 Epha7 Eph receptor A7 gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2301957|PMID:16983667 20081112 RGD mRNA:increased expression:spinal cord 70957 Epha7 Eph receptor A7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732959 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 70957 Epha7 Eph receptor A7 gene DOID:9008217 Hemorrhage ISO RGD:732959 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060043 sexual health disorder ISO RGD:737336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737336 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15264227 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:737336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737336 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:7240710 20130425 OMIM 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 PMID:17989220|PMID:19022251|PMID:20716669|PMID:24721225|PMID:25326635|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:28708303|PMID:29016847|PMID:32977175|PMID:35031858 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1059 intellectual disability ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:32581362|PMID:33818783 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:12849 autistic disorder ISO RGD:737336 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1826 epilepsy ISO RGD:737336 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33818783 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:543 dystonia ISO RGD:737336 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:630 genetic disease ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20716669|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:29016847|PMID:31209962|PMID:9536098 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:737336 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:737336 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737336 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868 70958 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:737336 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741907 70959 Apoc4 apolipoprotein C4 gene DOID:630 genetic disease ISO RGD:736043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70959 Apoc4 apolipoprotein C4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736043 D RGD:153350082|PMID:31211449 20220906 RGD associated with hepatitis B; 70960 Capn6 calpain 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734276 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70960 Capn6 calpain 6 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:734276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 70960 Capn6 calpain 6 gene DOID:10283 prostate cancer ISO RGD:734276 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 70960 Capn6 calpain 6 gene DOID:12849 autistic disorder ISO RGD:734276 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70960 Capn6 calpain 6 gene DOID:5419 schizophrenia ISO RGD:734276 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70960 Capn6 calpain 6 gene DOID:630 genetic disease ISO RGD:734276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70961 Hdgf heparin binding growth factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 70961 Hdgf heparin binding growth factor gene DOID:0111940 immunodeficiency 42 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 70961 Hdgf heparin binding growth factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 70961 Hdgf heparin binding growth factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 70961 Hdgf heparin binding growth factor gene DOID:1540 parathyroid carcinoma ISO RGD:735331 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 70961 Hdgf heparin binding growth factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735331 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 70961 Hdgf heparin binding growth factor gene DOID:5812 MHC class II deficiency ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 70961 Hdgf heparin binding growth factor gene DOID:630 genetic disease ISO RGD:735331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70961 Hdgf heparin binding growth factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735331 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 70962 Ntsr2 neurotensin receptor 2 gene DOID:5419 schizophrenia ISO RGD:733351 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70962 Ntsr2 neurotensin receptor 2 gene DOID:630 genetic disease ISO RGD:733351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70963 Folh1 folate hydrolase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 treatment ISO RGD:737025 D RGD:737756|PMID:12876198 20150305 RGD 70963 Folh1 folate hydrolase 1 gene DOID:1059 intellectual disability ISO RGD:734060 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70963 Folh1 folate hydrolase 1 gene DOID:630 genetic disease ISO RGD:734060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70963 Folh1 folate hydrolase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734060 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18247401|PMID:21923190 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:7240710 20130221 OMIM 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II PMID:11549681|PMID:19457927|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31291191|PMID:7493017|PMID:8872466 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733276 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:1967 leiomyosarcoma ISO RGD:733276 D RGD:2315651|PMID:17988723 20100107 RGD protein:increased expression:myometrium 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:2519 testicular disease ISO RGD:733276 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Disorder of testis PMID:19457927|PMID:25741868|PMID:28528332|PMID:30668521 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:4441 dysgerminoma ISO RGD:733276 D RGD:2315651|PMID:17988723 20100107 RGD protein:increased expression:ovary 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733276 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733276 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:630 genetic disease ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733276 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733276 D RGD:2315638|PMID:19424576 20100107 RGD mRNA, protein:increased expression:ovary 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733276 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Male pseudohermaphroditism PMID:25741868 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733276 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70964 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733276 D RGD:2315651|PMID:17988723 20100107 RGD protein:increased expression:endometrium 70965 Capn9 calpain 9 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 70965 Capn9 calpain 9 gene DOID:10534 stomach cancer ISO RGD:731611 D RGD:734688|PMID:10835488 19990101 RGD 70965 Capn9 calpain 9 gene DOID:1540 parathyroid carcinoma ISO RGD:731611 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 70965 Capn9 calpain 9 gene DOID:630 genetic disease ISO RGD:731611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70965 Capn9 calpain 9 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 70965 Capn9 calpain 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731611 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 70966 Dmtf1 cyclin D binding myb-like transcription factor 1 gene DOID:1826 epilepsy ISO RGD:736177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 70966 Dmtf1 cyclin D binding myb-like transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736177 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 70966 Dmtf1 cyclin D binding myb-like transcription factor 1 gene DOID:630 genetic disease ISO RGD:736177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70967 Casp6 caspase 6 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732006 D RGD:2301339|PMID:10574243 20081006 RGD protein:increased expression:breast 70967 Casp6 caspase 6 gene DOID:1002 endometritis treatment IEP D RGD:13782281|PMID:26920733 20180831 RGD 70967 Casp6 caspase 6 gene DOID:10286 prostate carcinoma IEP D RGD:1582381|PMID:11406539 20081006 RGD mRNA:increased expression:prostate gland 70967 Casp6 caspase 6 gene DOID:10652 Alzheimer's disease ISO RGD:732006 D RGD:13782269|PMID:12633148 20180830 RGD 70967 Casp6 caspase 6 gene DOID:11132 prostatic hypertrophy ISO RGD:732006 D RGD:2301337|PMID:15507514 20081006 RGD 70967 Casp6 caspase 6 gene DOID:1824 status epilepticus IDA D RGD:2301314|PMID:15749343 20081006 RGD protein:increased expression, increased activity:hippocampus 70967 Casp6 caspase 6 gene DOID:2316 brain ischemia IEP D RGD:2301331|PMID:11311984 20081006 RGD mRNA:increased expression:cerebral cortex 70967 Casp6 caspase 6 gene DOID:3525 middle cerebral artery infarction IEP D RGD:13782346|PMID:26868427 20180906 RGD 70967 Casp6 caspase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732006 D RGD:13434909|PMID:16231180 20171004 RGD mRNA:increased expression:lung 70967 Casp6 caspase 6 gene DOID:4001 ovarian carcinoma ISO RGD:732006 D RGD:2301336|PMID:17283169 20081006 RGD 70967 Casp6 caspase 6 gene DOID:630 genetic disease ISO RGD:732006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70967 Casp6 caspase 6 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:732006 D RGD:151667904|PMID:31952546 20220412 RGD human cells in mouse model 70967 Casp6 caspase 6 gene DOID:9004009 Reperfusion Injury IEP D RGD:2301320|PMID:15010362 20081006 RGD protein:increased expression, increased activity:small intestine mucosa 70967 Casp6 caspase 6 gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:13782275|PMID:29621761 20180831 RGD 70967 Casp6 caspase 6 gene DOID:9004484 Sepsis IDA D RGD:2301332|PMID:11086028 20081006 RGD protein:increased activity:thymus, T cell 70967 Casp6 caspase 6 gene DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:2301316|PMID:15662549 20081006 RGD protein:increased activity:heart left ventricle 70967 Casp6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:2301338|PMID:15210759 20081006 RGD 70967 Casp6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:2301339|PMID:10574243 20081006 RGD protein:increased expression:breast 70968 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:10763 hypertension susceptibility ISO RGD:1343347 D RGD:1625582|PMID:16444868 20070614 RGD 70968 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1343347 D RGD:1625582|PMID:16444868 20070614 RGD 70968 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:409 liver disease ISO RGD:1343347 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 70968 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:630 genetic disease ISO RGD:1343347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70968 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates IMP XCO:0000642 D RGD:151347602|PMID:31402164 20220203 RGD compared to wild type 70969 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:735940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 70969 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:735940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 70969 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:630 genetic disease ISO RGD:735940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70969 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:735940 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 70970 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:630 genetic disease ISO RGD:735555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70970 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9001553 Spinal Cord Compression IEP D RGD:2326108|PMID:20399821 20100624 RGD protein:decreased expression:spinal cord, thoracic vertebrae (rat) 70970 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735555 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70970 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302233|PMID:18452227 20081204 RGD protein:increased expression:pancreas 70970 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9970 obesity IEP D RGD:2326155|PMID:1685984 20100628 RGD protein:decreased activity:liver (rat) 70971 Hamp hepcidin antimicrobial peptide gene DOID:0050649 atransferrinemia treatment ISO RGD:1550218 D RGD:11041615|PMID:20956801 20160324 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15042878|PMID:29871592 20191213 RGD associated with iron overload;protein:increased expression:serum (human) 70971 Hamp hepcidin antimicrobial peptide gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15042880|PMID:28051796 20191213 RGD mRNA:increased expression:liver (human) 70971 Hamp hepcidin antimicrobial peptide gene DOID:0110222 Brugada syndrome 5 ISO RGD:736414 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 70971 Hamp hepcidin antimicrobial peptide gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 70971 Hamp hepcidin antimicrobial peptide gene DOID:0111027 hemochromatosis type 2A ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of PMID:12915468|PMID:19214511|PMID:28492532 70971 Hamp hepcidin antimicrobial peptide gene DOID:0111029 hemochromatosis type 1 ISO RGD:736414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12915468|PMID:17576681|PMID:19214511|PMID:28492532|PMID:9536098 70971 Hamp hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:7240710 20130731 OMIM 70971 Hamp hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2B PMID:12469120|PMID:12915468|PMID:15082576|PMID:15198949|PMID:19214511|PMID:21088809|PMID:25326637|PMID:25741868|PMID:28492532 70971 Hamp hepcidin antimicrobial peptide gene DOID:0111034 hemochromatosis type 2 ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Juvenile hemochromatosis 70971 Hamp hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia IEP D RGD:11041634|PMID:22457245 20160325 RGD mRNA:decreased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:1550218 D RGD:11041606|PMID:17218383 20160324 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis ISO RGD:736414 D RGD:11041639|PMID:19652645 20160325 RGD mRNA:decreased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis treatment IEP D RGD:11041732|PMID:23704825 20160328 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:11041617|PMID:23905873 20160329 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 70971 Hamp hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia treatment ISO RGD:1550218 D RGD:11041616|PMID:17299088 20160324 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:1340 pure red-cell aplasia IEP D RGD:11041717|PMID:25580431 20160328 RGD mRNA:increased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:13608 biliary atresia ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16627878 70971 Hamp hepcidin antimicrobial peptide gene DOID:13619 extrahepatic cholestasis IEP D RGD:11041639|PMID:19652645 20160325 RGD mRNA:decreased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:2352 hemochromatosis ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16574947|PMID:16627556|PMID:17255318|PMID:19252486|PMID:21411349|PMID:22383097 70971 Hamp hepcidin antimicrobial peptide gene DOID:2352 hemochromatosis ISO RGD:736414 D RGD:1599358|PMID:12469120 20070130 RGD juvenile hereditary hemochromatosis, HFE2B, OMIM:602390 70971 Hamp hepcidin antimicrobial peptide gene DOID:2352 hemochromatosis ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:12915468|PMID:14630809|PMID:14670915|PMID:15024747|PMID:15082576|PMID:15099344|PMID:16141345|PMID:16199547|PMID:17576681|PMID:19214511|PMID:19787796|PMID:21088809|PMID:21411349|PMID:22297252|PMID:25326637|PMID:25741868|PMID:26310624|PMID:26547814|PMID:26799139|PMID:28492532|PMID:33016646|PMID:9536098 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia IEP D RGD:11041773|PMID:21411831 20160329 RGD mRNA:increased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:1550218 D RGD:11041614|PMID:24357729 20160324 RGD associated with Inflammation 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:11041620|PMID:22689680 20160324 RGD associated with Malaria, Falciparum 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16434484|PMID:16627556|PMID:24086573 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia treatment IDA D RGD:11041618|PMID:24895335 20160324 RGD associated with Inflammation 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia treatment IMP D RGD:11041619|PMID:21730356 20160324 RGD associated with Inflammation 70971 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:736414 D RGD:11041612|PMID:25052873 20160324 RGD associated with Multiple Myeloma 70971 Hamp hepcidin antimicrobial peptide gene DOID:3525 middle cerebral artery infarction IEP D RGD:11041635|PMID:21957487 20160325 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum 70971 Hamp hepcidin antimicrobial peptide gene DOID:543 dystonia ISO RGD:736414 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 70971 Hamp hepcidin antimicrobial peptide gene DOID:5844 myocardial infarction IEP D RGD:11041636|PMID:19615879 20160325 RGD mRNA:increased expression:heart 70971 Hamp hepcidin antimicrobial peptide gene DOID:6000 congestive heart failure ISO RGD:736414 D RGD:11041621|PMID:21080339 20160324 RGD protein:increased expression:serum, urine 70971 Hamp hepcidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:736414 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70971 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma IDA D RGD:15042879|PMID:29235098 20191213 RGD DNA:hypermethylation,hypomethylation:promoter 70971 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma IEP D RGD:15042879|PMID:29235098 20191213 RGD mRNA:decreased expression:liver (human) 70971 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 70971 Hamp hepcidin antimicrobial peptide gene DOID:783 end stage renal disease IEP D RGD:11041611|PMID:20631677 20160324 RGD mRNA:increased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:11041622|PMID:19212416 20160324 RGD protein:increased expression:plasma 70971 Hamp hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16929540 70971 Hamp hepcidin antimicrobial peptide gene DOID:820 myocarditis ISO RGD:736414 D RGD:11041636|PMID:19615879 20160325 RGD mRNA:increased expression:heart 70971 Hamp hepcidin antimicrobial peptide gene DOID:893 Wilson disease ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 70971 Hamp hepcidin antimicrobial peptide gene DOID:9000099 Experimental Colitis IEP D RGD:11041628|PMID:24764672 20160324 RGD protein:increased expression:colon 70971 Hamp hepcidin antimicrobial peptide gene DOID:9002265 Kidney Neoplasms ISO RGD:736414 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 70971 Hamp hepcidin antimicrobial peptide gene DOID:9002311 Experimental Autoimmune Myocarditis IEP D RGD:11041636|PMID:19615879 20160325 RGD mRNA:increased expression:heart 70971 Hamp hepcidin antimicrobial peptide gene DOID:9003936 Cardiomegaly IEP D RGD:11041632|PMID:24424338 20160325 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1550218 D RGD:11041609|PMID:23390527 20160324 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload IEP D RGD:11041720|PMID:19524651 20160328 RGD protein:increased expression:serum 70971 Hamp hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:11041610|PMID:19734422 20160324 RGD associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) 70971 Hamp hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20801540|PMID:22659129 70971 Hamp hepcidin antimicrobial peptide gene DOID:9006944 Alcoholic Fatty Liver IEP D RGD:11041633|PMID:19253830 20160325 RGD mRNA:decreased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:11041724|PMID:24373749 20160328 RGD mRNA:increased expression:hepatocyte 70971 Hamp hepcidin antimicrobial peptide gene DOID:9007692 Insulin Resistance IEP D RGD:1601515|PMID:17350134 20160328 RGD mRNA:decreased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736414 D RGD:11041721|PMID:21757452 20160328 RGD 70971 Hamp hepcidin antimicrobial peptide gene DOID:9008550 Vitamin A Deficiency IEP D RGD:11041734|PMID:19217259 20160328 RGD mRNA:increased expression:liver 70971 Hamp hepcidin antimicrobial peptide gene DOID:9775 diastolic heart failure ISO RGD:736414 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 70972 Hao2 hydroxyacid oxidase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 70972 Hao2 hydroxyacid oxidase 2 gene DOID:13580 cholestasis ISO RGD:1346012 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 70972 Hao2 hydroxyacid oxidase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 70972 Hao2 hydroxyacid oxidase 2 gene DOID:630 genetic disease ISO RGD:1346012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70972 Hao2 hydroxyacid oxidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346012 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 70972 Hao2 hydroxyacid oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 70972 Hao2 hydroxyacid oxidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346012 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:0050912 colon adenoma ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:0060041 autism spectrum disorder ISO RGD:735457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:10283 prostate cancer ISO RGD:735457 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:1059 intellectual disability ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:11446 sciatic neuropathy IEP D RGD:6906922|PMID:16026470 20121019 RGD mRNA:decreased expression:spinal cord dorsal horn 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:13884 sick sinus syndrome ISO RGD:735457 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:1826 epilepsy ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:3312 bipolar disorder ISO RGD:735457 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28194001 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:446 primary hyperaldosteronism ISO RGD:735457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23913001 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:630 genetic disease ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:26680202|PMID:28492532|PMID:32561571|PMID:33432195 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:657 adenoma ISO RGD:735457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9000006 Supraventricular Tachycardia ISO RGD:735457 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9000307 Presbycusis ISO RGD:735458 D RGD:10045570|PMID:23470431 20150611 RGD mRNA, protein:decreased expression:cochlea 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9002231 Fetal Growth Retardation IEP D RGD:152985538|PMID:20873977 20220607 RGD protein:decreased expression:pancreas (rat) 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9003163 Heart Block ISO RGD:735457 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:7240710 20140911 OMIM 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:23913001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28318089|PMID:28492532 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004120 Alcohol Withdrawal Seizures susceptibility IEP D RGD:152985539|PMID:25556199 20220607 RGD mRNA, protein:increased expression:inferior colliculus (rat) 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004538 Hearing Loss ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16199547|PMID:28492532|PMID:30311386 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:7240710 20140911 OMIM 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness PMID:21131953|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30498240|PMID:32747562 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9006205 Animal Disease Models ISO RGD:735457 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9007001 Bradycardia ISO RGD:735457 D RGD:11554173 20180410 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008023 Memory Disorders IDA D RGD:704382|PMID:12591156 19990101 RGD 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008394 Drug-Induced Dyskinesia IMP D RGD:6906919|PMID:18947822 20121019 RGD 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735457 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15357422 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735458 D RGD:1300292|PMID:10929716 19990101 RGD 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus ISO RGD:735457 D RGD:13506727|PMID:23229155 20180207 RGD mRNA:decreased expression:pancreatic islet: 70973 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735457 D RGD:13506727|PMID:23229155 20180207 RGD DNA:SNPs: :rs9841978,rs312486(human) 70974 Kif2a kinesin family member 2A gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 70974 Kif2a kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:7240710 20140911 OMIM 70974 Kif2a kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3 PMID:23603762|PMID:25741868|PMID:27747449|PMID:28492532 70974 Kif2a kinesin family member 2A gene DOID:10907 microcephaly ISO RGD:735496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 70974 Kif2a kinesin family member 2A gene DOID:10907 microcephaly ISO RGD:735496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 70974 Kif2a kinesin family member 2A gene DOID:1826 epilepsy ISO RGD:735496 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 70974 Kif2a kinesin family member 2A gene DOID:630 genetic disease ISO RGD:735496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 70974 Kif2a kinesin family member 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735496 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 70974 Kif2a kinesin family member 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735496 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:731716 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731716 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:731716 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:10581 metachromatic leukodystrophy ISO RGD:731716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:1059 intellectual disability ISO RGD:731716 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70975 Mapk12 mitogen-activated protein kinase 12 gene DOID:630 genetic disease ISO RGD:731716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70976 Nfya nuclear transcription factor Y subunit alpha gene DOID:630 genetic disease ISO RGD:733450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70976 Nfya nuclear transcription factor Y subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 70977 Amotl2 angiomotin like 2 gene DOID:630 genetic disease ISO RGD:737053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70977 Amotl2 angiomotin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737053 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 70978 Dusp6 dual specificity phosphatase 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:731297 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 70978 Dusp6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:7240710 20140911 OMIM 70978 Dusp6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 70978 Dusp6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy IEP D RGD:2316089|PMID:15496935 20100125 RGD mRNA:increased expression:brain 70978 Dusp6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy IEP D RGD:728656|PMID:8626780 20131223 RGD 70978 Dusp6 dual specificity phosphatase 6 gene DOID:1612 breast cancer ISO RGD:731297 D RGD:7495809|PMID:12618338 20131218 RGD protein:increased expression:mammary gland 70978 Dusp6 dual specificity phosphatase 6 gene DOID:2316 brain ischemia IEP D RGD:2316092|PMID:10908038 20100125 RGD mRNA:increased expression:brain 70978 Dusp6 dual specificity phosphatase 6 gene DOID:305 carcinoma ISO RGD:731297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 70978 Dusp6 dual specificity phosphatase 6 gene DOID:3068 glioblastoma ISO RGD:731297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21499306 70978 Dusp6 dual specificity phosphatase 6 gene DOID:4989 pancreatitis IEP D RGD:2301725|PMID:11027531 20081030 RGD mRNA:increased expression:pancreas 70978 Dusp6 dual specificity phosphatase 6 gene DOID:630 genetic disease ISO RGD:731297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9002211 Hyperalgesia treatment IEP D RGD:7771531|PMID:22901764 20131218 RGD associated with Sciatic Neuropathy 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9003971 Postoperative Pain ISO RGD:731298 D RGD:7771585|PMID:24155322 20131219 RGD associated with Inflammation 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:731297 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 70978 Dusp6 dual specificity phosphatase 6 gene DOID:9065 leishmaniasis treatment ISO RGD:731298 D RGD:7771536|PMID:21471446 20131218 RGD 70979 Msra methionine sulfoxide reductase A gene DOID:12849 autistic disorder ISO RGD:737220 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70979 Msra methionine sulfoxide reductase A gene DOID:303 substance-related disorder ISO RGD:737220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 70979 Msra methionine sulfoxide reductase A gene DOID:5419 schizophrenia ISO RGD:737220 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 70979 Msra methionine sulfoxide reductase A gene DOID:630 genetic disease ISO RGD:737220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70979 Msra methionine sulfoxide reductase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737220 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70980 Gmpr guanosine monophosphate reductase gene DOID:630 genetic disease ISO RGD:733310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70980 Gmpr guanosine monophosphate reductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733310 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 70981 Bco1 beta-carotene oxygenase 1 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1346552 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 70981 Bco1 beta-carotene oxygenase 1 gene DOID:630 genetic disease ISO RGD:1346552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70981 Bco1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:7240710 20130221 OMIM 70981 Bco1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant PMID:17951468|PMID:5453458 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050746 mantle cell lymphoma ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050850 diabetic encephalopathy treatment IEP D RGD:13792771|PMID:26970304 20180926 RGD associated with Diabetes Mellitus, Experimental 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050861 colorectal adenocarcinoma ISO RGD:733891 D RGD:13210767|PMID:21609933 20170907 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733891 D RGD:150530486|PMID:21393552 20211213 RGD DNA:SNP:intron: (rs9879992) (human) 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease IDA D RGD:10045670|PMID:22982863 20150616 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:10045668|PMID:24101602 20150616 RGD DNA:altered methylation:CpG island: 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17409235|PMID:22944069 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:13782364|PMID:19154537 20180907 RGD DNA:SNP:promoter:rs334558 (human) 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733892 D RGD:1302533|PMID:11226152 19990101 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment IDA D RGD:13792736|PMID:27893738 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment IDA D RGD:13792777|PMID:29257340 20180927 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:10045669|PMID:22048123 20150616 RGD protein:decreased phosphorylation:hippocampus: 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:10401801|PMID:22623685 20151007 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10763 hypertension ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:10763 hypertension treatment IEP D RGD:10045670|PMID:22982863 20150616 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:11054 urinary bladder cancer ISO RGD:733891 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:114 heart disease treatment IMP D RGD:13792734|PMID:28440874 20180925 RGD associated with hypertension 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:11446 sciatic neuropathy IDA D RGD:13792740|PMID:27125978 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:14330 Parkinson's disease treatment IDA D RGD:10045553|PMID:23094836 20150610 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:1561 cognitive disorder ISO RGD:733891 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24634145 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357757|PMID:20534517 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder treatment IEP D RGD:10045564|PMID:19815943 20150611 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:1824 status epilepticus treatment IEP D RGD:10045560|PMID:22761705 20150611 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:219 colon cancer treatment IEP D RGD:10045586|PMID:22561258 20150612 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:2871 endometrial carcinoma severity ISO RGD:733891 D RGD:13524565|PMID:27050373 20180420 RGD protein:increased expression:endometrium (human) 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:3021 acute kidney failure ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22785175 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:303 substance-related disorder treatment IMP D RGD:13792724|PMID:30188517 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:1641929|PMID:17357145 20070823 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:1641931|PMID:16397405 20070823 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733891 D RGD:2301741|PMID:12675919 20151007 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:3525 middle cerebral artery infarction treatment IDA D RGD:13792734|PMID:28440874 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia IEP D RGD:10045563|PMID:12644246 20150611 RGD protein:decreased expression,decreased activity:brain: 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:31563592 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:1358369|PMID:14745448 20180130 RGD protein:decreased serine phosphorylation:frontal cortex 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:1358650|PMID:15254796 19990101 RGD protein:decreased expression:cerebrospinal fluid (human) 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:1641931|PMID:16397405 20070823 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16716347 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction treatment IMP D RGD:10045368|PMID:16565311 20150609 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:6000 congestive heart failure ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:630 genetic disease ISO RGD:733891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:680 tauopathy ISO RGD:733891 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:767 muscular atrophy ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18467435 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:8283 peritonitis ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:8725 vascular dementia treatment IDA D RGD:13792766|PMID:27118553 20180926 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:90 degenerative disc disease ISO RGD:733891 D RGD:13792726|PMID:29393545 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000046 Poisoning ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000438 Subarachnoid Hemorrhage treatment IDA D RGD:13792767|PMID:27026509 20180926 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries IEP D RGD:10045646|PMID:22643085 20150615 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24675465 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:13792730|PMID:28807209 20180925 RGD associated with nonalcoholic fatty liver disease 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002165 Diabetic Nephropathies treatment IMP D RGD:13792773|PMID:26888388 20180926 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:733892 D RGD:13210772|PMID:24670930 20170907 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:25246272 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002457 Experimental Arthritis ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002554 Tachycardia treatment IDA D RGD:13792733|PMID:28446231 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733891 D RGD:13441553|PMID:22455883 20171026 RGD protein:increased expression:ovary (human) 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:733891 D RGD:13210769|PMID:23389968 20170907 RGD protein:increased expression:nucleus 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:733891 D RGD:13210765|PMID:23729362 20170907 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly IEP D RGD:10045585|PMID:19318234 20150612 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9004484 Sepsis IEP D RGD:10045370|PMID:20926980 20150609 RGD protein:decreased phosphorylation,increased activity: : 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:733892 D RGD:10045579|PMID:19666099 20150612 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9005100 Aberrant Crypt Foci treatment IDA D RGD:13210771|PMID:23554136 20170907 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment IDA D RGD:13792729|PMID:28810530 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733891 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007653 Multiple Abnormalities ISO RGD:733891 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:733891 D RGD:13441554|PMID:23941783 20171026 RGD human cells in a mouse xenograft model 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007730 Burns IEP D RGD:10045647|PMID:17686886 20150615 RGD protein:increased activity,altered phosphorylation:skeletal muscle: 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:13792772|PMID:26918336 20180926 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment IDA D RGD:5509104|PMID:20217242 20150610 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:13792725|PMID:29978610 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9008394 Drug-Induced Dyskinesia treatment IMP D RGD:13792768|PMID:26997328 20180926 RGD associated with Parkinsonian Disorders 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:733891 D RGD:11554173 20230404 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733892 D RGD:10045562|PMID:20821187 20150611 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:13792739|PMID:27164497 20180925 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 70982 Gsk3b glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction treatment IEP D RGD:13792778|PMID:26591365 20180927 RGD 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:736857 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:25741868|PMID:26467025|PMID:28492532 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:11162 respiratory failure ISO RGD:736857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19822448 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:14452 hypokalemic periodic paralysis ISO RGD:736857 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11912116|PMID:19822448 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:14452 hypokalemic periodic paralysis ISO RGD:736857 D RGD:1300372|PMID:7847370 19990101 RGD DNA, protein:missense mutations:cds:p.R528H,R1239H (human) 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:14452 hypokalemic periodic paralysis ISO RGD:736857 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10590402|PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24195946|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532|PMID:30236257|PMID:9199552|PMID:9536098 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:1540 parathyroid carcinoma ISO RGD:736857 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:630 genetic disease ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24195946|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32054689 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:767 muscular atrophy ISO RGD:736857 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:31227654 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:1300373|PMID:9199552 19990101 RGD DNA,protein:missense mutation:cds:p.R1086H (human) 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23662824|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:20861472|PMID:22547813|PMID:22992668|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:30236257|PMID:9199552|PMID:9536098 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9000884 Rhabdomyolysis ISO RGD:736857 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736857 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19779499|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23187123|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24240197|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28857175|PMID:28972032|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:32054689|PMID:33005891|PMID:33060286|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9005248 CONGENITAL MYOPATHY 18 ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, due to dihydropyridine receptor defect PMID:25741868|PMID:26247046|PMID:28012042|PMID:28492532|PMID:31227654|PMID:33060286 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9005248 CONGENITAL MYOPATHY 18 susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:736857 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 PMID:15001631|PMID:25741868|PMID:28492532 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis susceptibility ISO RGD:736857 D RGD:7240710 20230517 OMIM 70983 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736857 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:1059 intellectual disability ISO RGD:737138 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:10908 hydrocephalus IEP D RGD:1624238|PMID:15964663 20111129 RGD mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:630 genetic disease ISO RGD:737138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70984 Bok BCL2 family apoptosis regulator BOK gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 70985 Slco1a5 solute carrier organic anion transporter family, member 1A5 gene DOID:1826 epilepsy ISO RGD:1332084 D RGD:11554173 20200519 CTD CTD Direct Evidence: marker/mechanism PMID:19570321 70986 Slc25a3 solute carrier family 25 member 3 gene DOID:630 genetic disease ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 70986 Slc25a3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:7240710 20130221 OMIM 70986 Slc25a3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial phosphate carrier deficiency | ClinVar Annotator: match by term: NEONATAL HYPERTROPHIC CARDIOMYOPATHY, RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND LACTIC ACIDOSIS PMID:17273968|PMID:17576681|PMID:21763135|PMID:25681081|PMID:25741868|PMID:28492532|PMID:9536098 70987 Faf1 Fas associated factor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733981 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 70987 Faf1 Fas associated factor 1 gene DOID:630 genetic disease ISO RGD:733981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70988 Akap12 A-kinase anchoring protein 12 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737243 D RGD:14348967|PMID:26891149 20190205 RGD 70988 Akap12 A-kinase anchoring protein 12 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:737243 D RGD:14348959|PMID:21918680 20190201 RGD 70988 Akap12 A-kinase anchoring protein 12 gene DOID:0080600 COVID-19 ISO RGD:737243 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70988 Akap12 A-kinase anchoring protein 12 gene DOID:11446 sciatic neuropathy IEP D RGD:14348968|PMID:19937403 20190205 RGD mRNA,protein:increased expression:spinal cord: 70988 Akap12 A-kinase anchoring protein 12 gene DOID:2316 brain ischemia IEP D RGD:14348963|PMID:21334414 20190204 RGD 70988 Akap12 A-kinase anchoring protein 12 gene DOID:3347 osteosarcoma IEP D RGD:5147850|PMID:19825367 20190201 RGD mRNA,protein:decreased expression:osteoblast: 70988 Akap12 A-kinase anchoring protein 12 gene DOID:5082 liver cirrhosis IEP D RGD:14348971|PMID:23925424 20190205 RGD mRNA,protein:increased expression:liver 70988 Akap12 A-kinase anchoring protein 12 gene DOID:630 genetic disease ISO RGD:737243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70988 Akap12 A-kinase anchoring protein 12 gene DOID:784 chronic kidney disease susceptibility ISO RGD:737243 D RGD:14349027|PMID:19724895 20190206 RGD DNA:polymorphism: :rs756009(human) 70988 Akap12 A-kinase anchoring protein 12 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:14348972|PMID:20155814 20190205 RGD mRNA,protein:increased expression:spinal cord 70988 Akap12 A-kinase anchoring protein 12 gene DOID:9004610 Acute Lung Injury IEP D RGD:14348970|PMID:23912647 20190205 RGD mRNA,protein:increased expression:lung 70988 Akap12 A-kinase anchoring protein 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737243 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:7240710 20130221 OMIM 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:734650|PMID:11536076 19990101 RGD 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0060389 chromosome 10q23 deletion syndrome ISS RGD:734373 D RGD:13592920 20180518 MouseDO OMIM:612242 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080006 bone development disease ISO RGD:734372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BMPR1A Skeletal Dysplasia Syndrome PMID:25741868|PMID:28492532|PMID:31493347 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:734372 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080600 COVID-19 ISO RGD:734372 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:734372 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532|PMID:30093976 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:7240710 20130221 OMIM 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 PMID:11536076|PMID:12417513|PMID:12676908|PMID:14526373|PMID:15235019|PMID:16199547|PMID:16525031|PMID:17325551|PMID:18178612|PMID:18823382|PMID:20845481|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:28717660|PMID:30884445|PMID:33032550 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:14289 Ebstein anomaly ISS RGD:734373 D RGD:13592920 20180518 MouseDO OMIM:224700 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:1520 colon carcinoma ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12417513|PMID:14526373|PMID:15235019|PMID:18823382|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:31727138 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:1612 breast cancer ISO RGD:734372 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:26580448|PMID:27153395|PMID:27621404|PMID:28492532 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:2394 ovarian cancer ISO RGD:734372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:384 Wolff-Parkinson-White syndrome ISS RGD:734373 D RGD:13592920 20180518 MouseDO OMIM:194200 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:1600589|PMID:11381269 20070316 RGD juvenile polyposis, OMIM:174900, DNA:point mutation:exon:Q239X 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:1600590|PMID:16525031 20070316 RGD hereditary mixed polyposis syndrome-2, HMPS2, OMIM:610069, DNA:deletion:exon 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:1600591|PMID:16685657 20070316 RGD juvenile polyposis syndrome, OMIM:174900 , DNA:deletion 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:734372 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:27153395|PMID:27621404|PMID:28492532 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:6432 pulmonary hypertension ISO RGD:734372 D RGD:5129472|PMID:19324947 20110330 RGD 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:8398 osteoarthritis ISS RGD:734373 D RGD:13592920 20180518 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:24121792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029678|PMID:31727138 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9002739 Female Urogenital Diseases ISO RGD:734372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16705692|PMID:16902903|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28660566|PMID:29212164|PMID:29522511|PMID:29909963|PMID:30029678|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31727138|PMID:31780696|PMID:32068069|PMID:33032550|PMID:8397373|PMID:9536098 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33110269|PMID:33821390|PMID:36632626|PMID:9536098 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007253 Hamartoma ISO RGD:734372 D RGD:734650|PMID:11536076 20070316 RGD Cowden-like syndrome, OMIM:158350, DNA:point mutation:exon:A338D 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9008296 Eye Abnormalities ISO RGD:734372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 70989 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734372 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730933 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:7240710 20130221 OMIM 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 PMID:15136966|PMID:16464940|PMID:16508750|PMID:16645022|PMID:18614612|PMID:19263482|PMID:20364024|PMID:20547206|PMID:25741868|PMID:28492532|PMID:31957178 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:730933 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:730933 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 70990 Bmp15 bone morphogenetic protein 15 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 70990 Bmp15 bone morphogenetic protein 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:730933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 70990 Bmp15 bone morphogenetic protein 15 gene DOID:12849 autistic disorder ISO RGD:730933 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 70990 Bmp15 bone morphogenetic protein 15 gene DOID:13938 amenorrhea ISO RGD:730933 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 70990 Bmp15 bone morphogenetic protein 15 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:730933 D RGD:1599496|PMID:16508750 20070206 RGD DNA:missense mutations: ;-9C>G, 308A>G, 852C>T 70990 Bmp15 bone morphogenetic protein 15 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730933 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 70990 Bmp15 bone morphogenetic protein 15 gene DOID:630 genetic disease ISO RGD:730933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70990 Bmp15 bone morphogenetic protein 15 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:730933 D RGD:10045849|PMID:22335445 20150617 RGD DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) 70991 Flot1 flotillin 1 gene DOID:0050553 JMP syndrome ISO RGD:736684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 70991 Flot1 flotillin 1 gene DOID:11100 Q fever ISO RGD:736684 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 70991 Flot1 flotillin 1 gene DOID:11372 megacolon ISO RGD:736684 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 70991 Flot1 flotillin 1 gene DOID:630 genetic disease ISO RGD:736684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70992 Sncb synuclein, beta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 70992 Sncb synuclein, beta gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 70992 Sncb synuclein, beta gene DOID:0112103 Sotos syndrome 1 ISO RGD:733869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 70992 Sncb synuclein, beta gene DOID:10652 Alzheimer's disease ISO RGD:733869 D RGD:6480194|PMID:11578596 20120314 RGD mRNA:decreased expression:brain 70992 Sncb synuclein, beta gene DOID:11870 Pick's disease ISO RGD:733869 D RGD:6480200|PMID:12410393 20120314 RGD protein:increased expression:dentate gyrus 70992 Sncb synuclein, beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:6219004|PMID:15365127 20120308 RGD DNA:mutations:cds:p.V70M, P123H (human) 70992 Sncb synuclein, beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:6478800|PMID:15483670 20120312 RGD 70992 Sncb synuclein, beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:6480095|PMID:10557341 20120313 RGD protein:increased expression:hippocampus 70992 Sncb synuclein, beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:7240710 20130221 OMIM 70992 Sncb synuclein, beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:15365127|PMID:21045828|PMID:25741868|PMID:26332674|PMID:31589614|PMID:33760043 70992 Sncb synuclein, beta gene DOID:13141 uveitis IDA D RGD:730073|PMID:12496452 20120308 RGD 70992 Sncb synuclein, beta gene DOID:14330 Parkinson's disease ISO RGD:733869 D RGD:6480095|PMID:10557341 20120313 RGD protein:increased expression:hippocampus 70992 Sncb synuclein, beta gene DOID:14330 Parkinson's disease onset ISO RGD:733869 D RGD:6478793|PMID:17556099 20120312 RGD DNA:SNP: :rs1352303(human) 70992 Sncb synuclein, beta gene DOID:3321 GM2 gangliosidosis ISO RGD:736763 D RGD:6480199|PMID:12657883 20120314 RGD protein:increased expression:brain 70992 Sncb synuclein, beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733869 D RGD:6480098|PMID:10934140 20120313 RGD 70992 Sncb synuclein, beta gene DOID:630 genetic disease ISO RGD:733869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70992 Sncb synuclein, beta gene DOID:8761 acute megakaryocytic leukemia ISO RGD:733869 D RGD:6478703|PMID:21264917 20120308 RGD 70992 Sncb synuclein, beta gene DOID:9000998 Brain Injuries ISO RGD:736763 D RGD:6480195|PMID:14637093 20120314 RGD 70992 Sncb synuclein, beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IDA D RGD:730073|PMID:12496452 20120308 RGD 70992 Sncb synuclein, beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733869 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 70992 Sncb synuclein, beta gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 70993 Flot2 flotillin 2 gene DOID:630 genetic disease ISO RGD:735666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70994 Myo1b myosin Ib gene DOID:630 genetic disease ISO RGD:735320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70994 Myo1b myosin Ib gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735320 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 70994 Myo1b myosin Ib gene DOID:9004657 Weight Gain ISO RGD:735320 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 70994 Myo1b myosin Ib gene DOID:9005369 Hepatomegaly ISO RGD:735320 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 70994 Myo1b myosin Ib gene DOID:9256 colorectal cancer ISO RGD:735320 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Colorectal cancer 70995 Metap2 methionyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:732103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70996 Sncg synuclein, gamma gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1345963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 70996 Sncg synuclein, gamma gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISS RGD:736643 D RGD:13592920 20180518 MouseDO OMIM:105400 70996 Sncg synuclein, gamma gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1345963 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 70996 Sncg synuclein, gamma gene DOID:0080855 Parkinsonism ISO RGD:736643 D RGD:6478802|PMID:15147505 20120312 RGD 70996 Sncg synuclein, gamma gene DOID:10652 Alzheimer's disease ISO RGD:1345963 D RGD:6478792|PMID:18577885 20120312 RGD protein:increased expression:cerebrospinal fluid 70996 Sncg synuclein, gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:6478704|PMID:20697047 20120308 RGD 70996 Sncg synuclein, gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:6478792|PMID:18577885 20120312 RGD protein:increased expression:cerebrospinal fluid 70996 Sncg synuclein, gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:6480095|PMID:10557341 20120313 RGD protein:increased expression:hippocampus 70996 Sncg synuclein, gamma gene DOID:14330 Parkinson's disease ISO RGD:1345963 D RGD:6480095|PMID:10557341 20120313 RGD protein:increased expression:hippocampus 70996 Sncg synuclein, gamma gene DOID:1596 depressive disorder IEP D RGD:6218960|PMID:18800064 20120307 RGD 70996 Sncg synuclein, gamma gene DOID:1612 breast cancer disease_progression ISO RGD:1345963 D RGD:6478795|PMID:16821081 20120312 RGD protein:increased expression:breast 70996 Sncg synuclein, gamma gene DOID:1686 glaucoma IEP D RGD:6480100|PMID:11933054 20120313 RGD mRNA, protein:decreased expression:optic nerve 70996 Sncg synuclein, gamma gene DOID:1686 glaucoma ISO RGD:1345963 D RGD:6218971|PMID:18728752 20120307 RGD 70996 Sncg synuclein, gamma gene DOID:1793 pancreatic cancer ISO RGD:1345963 D RGD:6478801|PMID:15221989 20120312 RGD 70996 Sncg synuclein, gamma gene DOID:305 carcinoma ISO RGD:1345963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 70996 Sncg synuclein, gamma gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345963 D RGD:6480098|PMID:10934140 20120313 RGD 70996 Sncg synuclein, gamma gene DOID:630 genetic disease ISO RGD:1345963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70996 Sncg synuclein, gamma gene DOID:768 retinoblastoma ISO RGD:1345963 D RGD:6218971|PMID:18728752 20120307 RGD 70996 Sncg synuclein, gamma gene DOID:8725 vascular dementia ISO RGD:1345963 D RGD:6478792|PMID:18577885 20120312 RGD protein:increased expression:cerebrospinal fluid 70996 Sncg synuclein, gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345963 D RGD:6478801|PMID:15221989 20120312 RGD 70996 Sncg synuclein, gamma gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 70996 Sncg synuclein, gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:6478795|PMID:16821081 20120312 RGD protein:increased expression:breast 70996 Sncg synuclein, gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:6478797|PMID:16140929 20120312 RGD DNA:hypomethylation: : 70996 Sncg synuclein, gamma gene DOID:9000998 Brain Injuries ISO RGD:736643 D RGD:6480195|PMID:14637093 20120314 RGD 70996 Sncg synuclein, gamma gene DOID:9002362 Hyperkinesis ISO RGD:1345963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18588534 70996 Sncg synuclein, gamma gene DOID:9002955 Nerve Degeneration ISO RGD:736643 D RGD:6478696|PMID:19246516 20120308 RGD 70996 Sncg synuclein, gamma gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 70996 Sncg synuclein, gamma gene DOID:9005632 Cocaine-Related Disorders IMP D RGD:6218958|PMID:20579003 20120307 RGD 70996 Sncg synuclein, gamma gene DOID:9007402 Gliosis ISO RGD:736643 D RGD:6478696|PMID:19246516 20120308 RGD 70996 Sncg synuclein, gamma gene DOID:9008939 Breast Neoplasms ISO RGD:1345963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20595634 70997 Fabp5 fatty acid binding protein 5 gene DOID:10283 prostate cancer ISO RGD:736313 D RGD:1578462|PMID:16489065 19990101 RGD mRNA:increased expression:prostate (human) 70997 Fabp5 fatty acid binding protein 5 gene DOID:630 genetic disease ISO RGD:736313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70997 Fabp5 fatty acid binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 70997 Fabp5 fatty acid binding protein 5 gene DOID:8893 psoriasis ISO RGD:736313 D RGD:1578463|PMID:16283139 19990101 RGD mRNA:increased expression:skin (human) 70997 Fabp5 fatty acid binding protein 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:736313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 70998 Fxyd4 FXYD domain-containing ion transport regulator 4 gene DOID:630 genetic disease ISO RGD:735874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70999 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:3146 lipid metabolism disorder ISO RGD:733605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:2332510 70999 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:733605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 70999 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:733605 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 70999 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:733605 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 70999 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:25741868|PMID:28492532 71000 Myh10 myosin heavy chain 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 71000 Myh10 myosin heavy chain 10 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9678433 71000 Myh10 myosin heavy chain 10 gene DOID:630 genetic disease ISO RGD:1353980 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71000 Myh10 myosin heavy chain 10 gene DOID:9003133 Hypertelorism ISO RGD:1353980 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Hypertelorism 71000 Myh10 myosin heavy chain 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353980 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 71000 Myh10 myosin heavy chain 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1353980 D RGD:8554872 20201215 ClinVar ClinVar Annotator: match by term: Global developmental delay 71000 Myh10 myosin heavy chain 10 gene DOID:9970 obesity ISO RGD:1353980 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 71001 Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:0111041 glycogen storage disease IXb ISO RGD:732533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 71001 Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:409 liver disease IEP D RGD:4891447|PMID:15270078 20120203 RGD mRNA:increased expression:liver (rat) 71001 Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:630 genetic disease ISO RGD:732533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71002 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:735964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 71002 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:1826 epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 71002 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 71002 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:735964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:7240710 20130221 OMIM 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L PMID:15021985|PMID:15122253|PMID:15565283|PMID:17344846|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:25206829|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:28501893|PMID:28747872|PMID:28780615|PMID:32376792 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:0111208 distal hereditary motor neuronopathy type 2A ISO RGD:1346187 D RGD:7240710 20131030 OMIM 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:0111208 distal hereditary motor neuronopathy type 2A ISO RGD:1346187 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A PMID:15122253|PMID:1517763|PMID:17344846|PMID:20538880|PMID:21985219|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:32376792 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15021985|PMID:15122253|PMID:15565283|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:23796487|PMID:25206829|PMID:26467025|PMID:28747872|PMID:28780615 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:11720 distal myopathy ISO RGD:1346187 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Distal myopathy PMID:25741868|PMID:26976520|PMID:28501893|PMID:29029362 71003 Hspb8 heat shock protein family B (small) member 8 gene DOID:630 genetic disease ISO RGD:1346187 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17344846|PMID:25741868|PMID:26467025|PMID:26718575|PMID:28492532|PMID:32376792 71004 Smad9 SMAD family member 9 gene DOID:10283 prostate cancer ISO RGD:1350114 D RGD:2299981|PMID:15042598 20080822 RGD protein:altered localization 71004 Smad9 SMAD family member 9 gene DOID:1324 lung cancer ISO RGD:1350114 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465803|PMID:26253951 71004 Smad9 SMAD family member 9 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350114 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 71004 Smad9 SMAD family member 9 gene DOID:630 genetic disease ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 71004 Smad9 SMAD family member 9 gene DOID:6432 pulmonary hypertension IEP D RGD:1643222|PMID:17347486 20170502 RGD 71004 Smad9 SMAD family member 9 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350114 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:28492532|PMID:30029678 71004 Smad9 SMAD family member 9 gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:1643227|PMID:17166487 20170502 RGD mRNA:decreased expression:hypoglossal nucleus 71004 Smad9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:7240710 20170208 OMIM 71004 Smad9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 PMID:16199547|PMID:17576681|PMID:19211612|PMID:19419974|PMID:21898662|PMID:21920918|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29631995|PMID:30029678|PMID:31727138|PMID:9536098 71004 Smad9 SMAD family member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350114 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 71004 Smad9 SMAD family member 9 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1350114 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 71005 Prdx6 peroxiredoxin 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1602898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 71005 Prdx6 peroxiredoxin 6 gene DOID:14250 Down syndrome ISO RGD:1602898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 71005 Prdx6 peroxiredoxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1602898 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 71005 Prdx6 peroxiredoxin 6 gene DOID:2349 arteriosclerosis ISO RGD:736132 D RGD:1580711|PMID:15488866 19990101 RGD 71005 Prdx6 peroxiredoxin 6 gene DOID:2773 contact dermatitis ISO RGD:1602898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 71005 Prdx6 peroxiredoxin 6 gene DOID:3755 antithrombin III deficiency ISO RGD:1602898 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 71005 Prdx6 peroxiredoxin 6 gene DOID:630 genetic disease ISO RGD:1602898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71005 Prdx6 peroxiredoxin 6 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 71005 Prdx6 peroxiredoxin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1602898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 71005 Prdx6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:26884462|PMID:25171874 20200511 RGD protein:decreased expression:placenta 71005 Prdx6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1602898 D RGD:26884462|PMID:25171874 20200511 RGD protein:decreased expression:placenta 71005 Prdx6 peroxiredoxin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:736132 D RGD:1580710|PMID:16766642 19990101 RGD 71005 Prdx6 peroxiredoxin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1602898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 71005 Prdx6 peroxiredoxin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1602898 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 71005 Prdx6 peroxiredoxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 71005 Prdx6 peroxiredoxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602898 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 71006 Cdc37 cell division cycle 37, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:732258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71007 Prdx5 peroxiredoxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 71007 Prdx5 peroxiredoxin 5 gene DOID:10459 common cold ISO RGD:1347956 D RGD:41404684|PMID:18219526 20210203 RGD associated with asthma;protein:increased expression:sputum (human) 71007 Prdx5 peroxiredoxin 5 gene DOID:1059 intellectual disability ISO RGD:1347956 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 71007 Prdx5 peroxiredoxin 5 gene DOID:11077 brucellosis ISO RGD:733919 D RGD:41404681|PMID:31196623 20210203 RGD mRNA:increased expression:spleen (mouse) 71007 Prdx5 peroxiredoxin 5 gene DOID:11335 sarcoidosis ISO RGD:1347956 D RGD:9068941 20210205 RGD protein:increased expression:alveolus of lung (human) PMID:22837380|REF_RGD_ID:41404683 71007 Prdx5 peroxiredoxin 5 gene DOID:3070 high grade glioma ISO RGD:1347956 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 71007 Prdx5 peroxiredoxin 5 gene DOID:630 genetic disease ISO RGD:1347956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71007 Prdx5 peroxiredoxin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 71007 Prdx5 peroxiredoxin 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347956 D RGD:9068941 20210205 RGD mRNA:decreased expression:liver, blood (human) PMID:32103340|REF_RGD_ID:41404682 71007 Prdx5 peroxiredoxin 5 gene DOID:986 alopecia areata ISO RGD:1347956 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 71008 Gpnmb glycoprotein nmb gene DOID:0060680 pigment dispersion syndrome ISS RGD:733525 D RGD:13592920 20180518 MouseDO OMIM:600510 71008 Gpnmb glycoprotein nmb gene DOID:0080600 COVID-19 ISO RGD:736300 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 71008 Gpnmb glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:7240710 20190315 OMIM 71008 Gpnmb glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 PMID:19416385|PMID:25741868|PMID:25866143|PMID:28492532|PMID:29336782 71008 Gpnmb glycoprotein nmb gene DOID:3021 acute kidney failure ISO RGD:736300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 71008 Gpnmb glycoprotein nmb gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736300 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 71008 Gpnmb glycoprotein nmb gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736300 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 71008 Gpnmb glycoprotein nmb gene DOID:630 genetic disease ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71008 Gpnmb glycoprotein nmb gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 71008 Gpnmb glycoprotein nmb gene DOID:9004590 Acute Liver Failure ISO RGD:736300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15763343 71008 Gpnmb glycoprotein nmb gene DOID:9008443 Colorectal Neoplasms ISO RGD:736300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 71008 Gpnmb glycoprotein nmb gene DOID:9008939 Breast Neoplasms ISO RGD:736300 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 71009 Adcy3 adenylate cyclase 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 71009 Adcy3 adenylate cyclase 3 gene DOID:11713 diabetic angiopathy ISO RGD:732499 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 71009 Adcy3 adenylate cyclase 3 gene DOID:11981 morbid obesity ISO RGD:732499 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:29311637 71009 Adcy3 adenylate cyclase 3 gene DOID:1470 major depressive disorder ISS RGD:732500 D RGD:13592920 20220421 MouseDO OMIM:608520 | OMIM:608691 71009 Adcy3 adenylate cyclase 3 gene DOID:630 genetic disease ISO RGD:732499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71009 Adcy3 adenylate cyclase 3 gene DOID:9970 obesity ISO RGD:732499 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:29311635 71009 Adcy3 adenylate cyclase 3 gene DOID:9970 obesity ISO RGD:732499 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 PMID:25741868|PMID:29311636|PMID:29311637 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:736393 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:736393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:1824 status epilepticus IEP D RGD:2314147|PMID:11564418 20091102 RGD 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:736393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26253517 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:736393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:863 nervous system disease ISO RGD:736393 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:736393 D RGD:8554872 20220412 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9002221 Hyperplasia IDA D RGD:704377|PMID:12555267 19990101 RGD 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736393 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20554700 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9007096 Stroke IDA D RGD:2314146|PMID:16730914 20091102 RGD 71010 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9281 phenylketonuria ISO RGD:736393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:28492532 71011 Gpr85 G protein-coupled receptor 85 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736296 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 71011 Gpr85 G protein-coupled receptor 85 gene DOID:630 genetic disease ISO RGD:736296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71011 Gpr85 G protein-coupled receptor 85 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736296 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71012 Fzd2 frizzled class receptor 2 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931 71012 Fzd2 frizzled class receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:25759469|PMID:29276006|PMID:30455931 71012 Fzd2 frizzled class receptor 2 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:732091 D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:29276006 71012 Fzd2 frizzled class receptor 2 gene DOID:0080600 COVID-19 ISO RGD:732091 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 71012 Fzd2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:7240710 20190315 OMIM 71012 Fzd2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant omodysplasia PMID:25741868|PMID:25759469|PMID:30455931 71012 Fzd2 frizzled class receptor 2 gene DOID:10126 keratoconus ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:28492532 71012 Fzd2 frizzled class receptor 2 gene DOID:127 leiomyoma ISO RGD:732091 D RGD:2298700|PMID:12909487 20080715 RGD mRNA, protein:increased expression:myometrium 71012 Fzd2 frizzled class receptor 2 gene DOID:3459 breast carcinoma ISO RGD:732091 D RGD:2298699|PMID:15492823 20080715 RGD protein:increased expression:breast 71012 Fzd2 frizzled class receptor 2 gene DOID:5844 myocardial infarction IEP D RGD:4107058|PMID:9142123 20100712 RGD mRNA:increased expression:heart left ventricle 71012 Fzd2 frizzled class receptor 2 gene DOID:630 genetic disease ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 71012 Fzd2 frizzled class receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732091 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 71012 Fzd2 frizzled class receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:4107053|PMID:8762054 20100712 RGD mRNA:increased expression:heart left ventricle 71012 Fzd2 frizzled class receptor 2 gene DOID:9007661 Dwarfism ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 71013 Esm1 endothelial cell-specific molecule 1 gene DOID:630 genetic disease ISO RGD:737594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71013 Esm1 endothelial cell-specific molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737594 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 71013 Esm1 endothelial cell-specific molecule 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737594 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71013 Esm1 endothelial cell-specific molecule 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737594 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 71014 Adcy5 adenylate cyclase 5 gene DOID:0050700 cardiomyopathy ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18029912|PMID:23536361 71014 Adcy5 adenylate cyclase 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 71014 Adcy5 adenylate cyclase 5 gene DOID:0111190 distal muscular dystrophy 4 ISO RGD:736882 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868 71014 Adcy5 adenylate cyclase 5 gene DOID:10763 hypertension IEP D RGD:13464134|PMID:12717102 20171222 RGD mRNA:decreased expression:heart left ventricle 71014 Adcy5 adenylate cyclase 5 gene DOID:10763 hypertension ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12717102 71014 Adcy5 adenylate cyclase 5 gene DOID:11476 osteoporosis ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18029912 71014 Adcy5 adenylate cyclase 5 gene DOID:14330 Parkinson's disease ISS RGD:736883 D RGD:13592920 20180518 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 71014 Adcy5 adenylate cyclase 5 gene DOID:305 carcinoma ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 71014 Adcy5 adenylate cyclase 5 gene DOID:630 genetic disease ISO RGD:736882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11310626|PMID:24700542|PMID:25326635|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28492532|PMID:28511835|PMID:28971144|PMID:32713175 71014 Adcy5 adenylate cyclase 5 gene DOID:9000100 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA ISO RGD:736882 D RGD:7240710 20220216 OMIM 71014 Adcy5 adenylate cyclase 5 gene DOID:9000100 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA ISO RGD:736882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia PMID:25741868|PMID:28492532|PMID:33704598|PMID:34631954 71014 Adcy5 adenylate cyclase 5 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 71014 Adcy5 adenylate cyclase 5 gene DOID:9000784 Fibrosis ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25193472 71014 Adcy5 adenylate cyclase 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25193472 71014 Adcy5 adenylate cyclase 5 gene DOID:9002949 Dyskinesia with Orofacial Involvement, Autosomal Recessive ISO RGD:736882 D RGD:7240710 20220209 OMIM 71014 Adcy5 adenylate cyclase 5 gene DOID:9002949 Dyskinesia with Orofacial Involvement, Autosomal Recessive ISO RGD:736882 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive PMID:25741868|PMID:28492532|PMID:28971144|PMID:30975617 71014 Adcy5 adenylate cyclase 5 gene DOID:9003996 Birth Weight ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 71014 Adcy5 adenylate cyclase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736882 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 71014 Adcy5 adenylate cyclase 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 71014 Adcy5 adenylate cyclase 5 gene DOID:9006115 Dyskinesia with Orofacial Involvement, Autosomal Dominant ISO RGD:736882 D RGD:7240710 20230308 OMIM 71014 Adcy5 adenylate cyclase 5 gene DOID:9006115 Dyskinesia with Orofacial Involvement, Autosomal Dominant ISO RGD:736882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant PMID:1003446|PMID:11310626|PMID:11445636|PMID:152174|PMID:16199547|PMID:16537460|PMID:22782511|PMID:24700542|PMID:25326635|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:27931826|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:31181574|PMID:31501304|PMID:31731261|PMID:32627162|PMID:32713175|PMID:34631954 71014 Adcy5 adenylate cyclase 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:736882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 71014 Adcy5 adenylate cyclase 5 gene DOID:9007924 Dyskinesia with Orofacial Involvement ISO RGD:736882 D RGD:11554173 20230314 CTD CTD Direct Evidence: marker/mechanism 71014 Adcy5 adenylate cyclase 5 gene DOID:9007924 Dyskinesia with Orofacial Involvement ISO RGD:736882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia PMID:24700542|PMID:25741868|PMID:26085604|PMID:26537056|PMID:28492532|PMID:28511835|PMID:30772269 71014 Adcy5 adenylate cyclase 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736882 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 71014 Adcy5 adenylate cyclase 5 gene DOID:9270 alkaptonuria ISO RGD:736882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 71014 Adcy5 adenylate cyclase 5 gene DOID:93 language disorder ISO RGD:736882 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Language disorder 71014 Adcy5 adenylate cyclase 5 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:13464136|PMID:12607610 20171222 RGD 71014 Adcy5 adenylate cyclase 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20081858|PMID:23202124 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735567 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735567 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735567 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:735567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71015 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735567 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:736649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:10787 premature menopause IEP D RGD:15045610|PMID:25263431 20191219 RGD mRNA:decreased expression:liver (rat) 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:13580 cholestasis ISO RGD:736649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:13619 extrahepatic cholestasis treatment IEP D RGD:14995480|PMID:29360226 20191213 RGD mRNA:decreased expression:liver (rat) 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:630 genetic disease ISO RGD:736649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71016 Cyp8b1 cytochrome P450 family 8 subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736649 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25448281 71017 Fzd4 frizzled class receptor 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:736680 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 71017 Fzd4 frizzled class receptor 4 gene DOID:0050535 exudative vitreoretinopathy ISS RGD:736680 D RGD:13592920 20180518 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 71017 Fzd4 frizzled class receptor 4 gene DOID:0060844 Norrie disease ISO RGD:736680 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 71017 Fzd4 frizzled class receptor 4 gene DOID:0060844 Norrie disease ISS RGD:733796 D RGD:13592920 20180518 MouseDO OMIM:310600 71017 Fzd4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:1598999|PMID:12172548 20070111 RGD 71017 Fzd4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:7240710 20130221 OMIM 71017 Fzd4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15370539|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:19324841|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21177847|PMID:21179236|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26227961|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 71017 Fzd4 frizzled class receptor 4 gene DOID:1059 intellectual disability ISO RGD:736680 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 71017 Fzd4 frizzled class receptor 4 gene DOID:11193 syndactyly ISO RGD:736680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 71017 Fzd4 frizzled class receptor 4 gene DOID:13025 retinopathy of prematurity ISO RGD:736680 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 71017 Fzd4 frizzled class receptor 4 gene DOID:5679 retinal disease ISO RGD:736680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 71017 Fzd4 frizzled class receptor 4 gene DOID:630 genetic disease ISO RGD:736680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 71017 Fzd4 frizzled class receptor 4 gene DOID:674 cleft palate ISO RGD:736680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 71017 Fzd4 frizzled class receptor 4 gene DOID:7765 Coats disease ISO RGD:736680 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 71017 Fzd4 frizzled class receptor 4 gene DOID:8501 fundus dystrophy ISO RGD:736680 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 71017 Fzd4 frizzled class receptor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:736680 D RGD:2298702|PMID:18068632 20080715 RGD protein:increased expression:prostate gland 71017 Fzd4 frizzled class receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736680 D RGD:2298702|PMID:18068632 20080715 RGD protein:increased expression:prostate gland 71017 Fzd4 frizzled class receptor 4 gene DOID:9005367 Arachnodactyly ISO RGD:736680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 71017 Fzd4 frizzled class receptor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736680 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 71018 Gna12 G protein subunit alpha 12 gene DOID:0111957 immunodeficiency 11A ISO RGD:732491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 71018 Gna12 G protein subunit alpha 12 gene DOID:630 genetic disease ISO RGD:732491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71018 Gna12 G protein subunit alpha 12 gene DOID:8577 ulcerative colitis ISO RGD:732491 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 71018 Gna12 G protein subunit alpha 12 gene DOID:9007102 Myocardial Ischemia ISO RGD:732491 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:3021 acute kidney failure IEP D RGD:11252083|PMID:19349364 20160623 RGD mRNA, protein:decreased expression:kidney 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:732652 D RGD:13506732|PMID:20676679 20180208 RGD protein:increased expression:serum 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732652 D RGD:13506731|PMID:23788753 20180208 RGD 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:5844 myocardial infarction IEP D RGD:11252084|PMID:16765982 20160623 RGD 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IEP D RGD:11252085|PMID:16761101 20160623 RGD 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:11252083|PMID:19349364 20160623 RGD mRNA, protein:decreased expression:kidney 71019 Egln3 egl-9 family hypoxia-inducible factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:732652 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 71020 Lman1 lectin, mannose-binding, 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:732234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 71020 Lman1 lectin, mannose-binding, 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:732234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 71020 Lman1 lectin, mannose-binding, 1 gene DOID:2211 factor XIII deficiency ISO RGD:732234 D RGD:1600100|PMID:9546392 20070228 RGD F5F8D, OMIM:227300 71020 Lman1 lectin, mannose-binding, 1 gene DOID:2216 factor V deficiency ISO RGD:732234 D RGD:1600100|PMID:9546392 20070228 RGD F5F8D, OMIM:227300 71020 Lman1 lectin, mannose-binding, 1 gene DOID:2216 factor V deficiency ISO RGD:732234 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Factor V deficiency PMID:25741868 71020 Lman1 lectin, mannose-binding, 1 gene DOID:630 genetic disease ISO RGD:732234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71020 Lman1 lectin, mannose-binding, 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:7240710 20130221 OMIM 71020 Lman1 lectin, mannose-binding, 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:18391077|PMID:25741868|PMID:31064749|PMID:9045860|PMID:9546392 71021 Parva parvin, alpha gene DOID:1059 intellectual disability ISO RGD:1352322 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 71021 Parva parvin, alpha gene DOID:303 substance-related disorder ISO RGD:1352322 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 71021 Parva parvin, alpha gene DOID:630 genetic disease ISO RGD:1352322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71022 Itga7 integrin subunit alpha 7 gene DOID:0050700 cardiomyopathy treatment IMP D RGD:13601980|PMID:15632017 20180525 RGD 71022 Itga7 integrin subunit alpha 7 gene DOID:0080000 muscular disease ISO RGD:734343 D RGD:1600024|PMID:9590299 20070226 RGD 71022 Itga7 integrin subunit alpha 7 gene DOID:0080600 COVID-19 ISO RGD:734343 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 71022 Itga7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:7240710 20160720 OMIM 71022 Itga7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:12057917|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:31785789|PMID:9536098|PMID:9590299 71022 Itga7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734344 D RGD:13601979|PMID:9354797 20180525 RGD 71022 Itga7 integrin subunit alpha 7 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:734343 D RGD:13601981|PMID:23319059 20180525 RGD 71022 Itga7 integrin subunit alpha 7 gene DOID:2349 arteriosclerosis IEP D RGD:1600025|PMID:14988073 20070226 RGD Atherogenesis 71022 Itga7 integrin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:734343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 71022 Itga7 integrin subunit alpha 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:734343 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 71023 Dctn4 dynactin subunit 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 71023 Dctn4 dynactin subunit 4 gene DOID:1485 cystic fibrosis ISO RGD:736897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 71023 Dctn4 dynactin subunit 4 gene DOID:630 genetic disease ISO RGD:736897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71023 Dctn4 dynactin subunit 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 71023 Dctn4 dynactin subunit 4 gene DOID:9007417 Pseudomonas Infections ISO RGD:736897 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 71024 Actr3 actin related protein 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:736322 D RGD:11570560|PMID:14990971 20161220 RGD protein:increased expression:colonic mucosa (human) 71024 Actr3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:2292230|PMID:18064521 20161220 RGD DNA:missense mutation:cds:p.L111F (rat) 71024 Actr3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis IEP D RGD:11575049|PMID:27251563 20161222 RGD protein:increased expression:renal glomerulus (rat) 71024 Actr3 actin related protein 3 gene DOID:13768 opisthorchiasis ISO RGD:736322 D RGD:11570559|PMID:25809205 20161220 RGD 71024 Actr3 actin related protein 3 gene DOID:3068 glioblastoma ISO RGD:736322 D RGD:11570557|PMID:25682201 20161220 RGD mRNA:increased expression:brain (human) 71024 Actr3 actin related protein 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:736322 D RGD:11571623|PMID:23320827 20161221 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) 71024 Actr3 actin related protein 3 gene DOID:5419 schizophrenia IEP D RGD:11571618|PMID:23942359 20161221 RGD protein:decreased expression:frontal cortex (rat) 71024 Actr3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:736322 D RGD:11571621|PMID:16491132 20161221 RGD protein:altered expression:anterior cingulate cortex (human) 71024 Actr3 actin related protein 3 gene DOID:630 genetic disease ISO RGD:736322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71024 Actr3 actin related protein 3 gene DOID:9002775 Cognitive Dysfunction IEP D RGD:9999367|PMID:24069387 20161220 RGD protein:altered localization:hippocampus (rat) 71024 Actr3 actin related protein 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736322 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 71025 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 71025 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 71025 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1343323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71025 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343323 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 71026 Rpsa ribosomal protein SA gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISS RGD:1615177 D RGD:13592920 20180518 MouseDO OMIM:604400 71026 Rpsa ribosomal protein SA gene DOID:11446 sciatic neuropathy IEP D RGD:11041651|PMID:19196078 20160325 RGD 71026 Rpsa ribosomal protein SA gene DOID:1339 Diamond-Blackfan anemia ISS RGD:1615177 D RGD:13592920 20180518 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 71026 Rpsa ribosomal protein SA gene DOID:3910 lung adenocarcinoma ISO RGD:1344885 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 71026 Rpsa ribosomal protein SA gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11041651|PMID:19196078 20160325 RGD 71026 Rpsa ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:7240710 20141015 OMIM 71026 Rpsa ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9162158 71026 Rpsa ribosomal protein SA gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 71026 Rpsa ribosomal protein SA gene DOID:9006205 Animal Disease Models ISO RGD:1344885 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 71026 Rpsa ribosomal protein SA gene DOID:9778 irritable bowel syndrome IEP D RGD:5686874|PMID:20461717 20160325 RGD 71027 Grik3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735713 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 71027 Grik3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:5409 lung small cell carcinoma ISO RGD:735713 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 71027 Grik3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:630 genetic disease ISO RGD:735713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71028 Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:735489 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 71028 Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:735489 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 71028 Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:630 genetic disease ISO RGD:735489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71028 Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:684 hepatocellular carcinoma ISO RGD:735489 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 71028 Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735489 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 71029 Col3a1 collagen type III alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737225 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:2049575|PMID:21086191|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25846194|PMID:27011056|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30374176 71029 Col3a1 collagen type III alpha 1 chain gene DOID:0050827 rheumatic heart disease IEP D RGD:155882558|PMID:33179113 20230130 RGD mRNA:increases expression:mitral valve, heart (rat) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:0050851 glomerulosclerosis IEP D RGD:7257557|PMID:20610530 20180425 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:0050855 renal fibrosis ISO RGD:732584 D RGD:7257551|PMID:23224993 20130823 RGD protein:increased expression:kidney 71029 Col3a1 collagen type III alpha 1 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:737225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 71029 Col3a1 collagen type III alpha 1 chain gene DOID:10763 hypertension ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 71029 Col3a1 collagen type III alpha 1 chain gene DOID:11372 megacolon ISO RGD:737225 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 71029 Col3a1 collagen type III alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:737225 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 71029 Col3a1 collagen type III alpha 1 chain gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 71029 Col3a1 collagen type III alpha 1 chain gene DOID:12932 endomyocardial fibrosis ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11300427 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737225 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:732584 D RGD:11041599|PMID:21071432 20160324 RGD DNA:deletion:promoter, exons, introns 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:11041602|PMID:1370809 20160324 RGD DNA:deletion:exon 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:11554173 20180626 CTD CTD Direct Evidence: marker/mechanism 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:1300381|PMID:10706896 19990101 RGD DNA:mutations:multiple (human) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:7257554|PMID:16012458 20130823 RGD DNA:mutation 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:18272325|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:29192238|PMID:30115950|PMID:30374176|PMID:30837697|PMID:31141158|PMID:8514866|PMID:9036918|PMID:9399899 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:737225 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 71029 Col3a1 collagen type III alpha 1 chain gene DOID:13948 bladder neck obstruction treatment IEP D RGD:7257549|PMID:23313213 20130823 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:16199547|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27306637|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29543232|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:30793832|PMID:30919682|PMID:31075413|PMID:31126764|PMID:31531849|PMID:31719132|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:31075413|PMID:31531849|PMID:31719132|PMID:33282382|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29485843|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14018 alcoholic liver cirrhosis ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:737225 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:7240710 20180620 OMIM 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737225 D RGD:11041770|PMID:7833919 20160329 RGD DNA:missense mutation: :p.G637S (2512G>A) (human) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737225 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 71029 Col3a1 collagen type III alpha 1 chain gene DOID:1826 epilepsy ISO RGD:737225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 71029 Col3a1 collagen type III alpha 1 chain gene DOID:2018 hyperinsulinism ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 71029 Col3a1 collagen type III alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:737225 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 71029 Col3a1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 71029 Col3a1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:732584 D RGD:30309204|PMID:31838832 20200619 RGD associated with Middle East respiratory syndrome; 71029 Col3a1 collagen type III alpha 1 chain gene DOID:409 liver disease ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 71029 Col3a1 collagen type III alpha 1 chain gene DOID:418 systemic scleroderma ISS RGD:732584 D RGD:13592920 20180518 MouseDO OMIM:181750 71029 Col3a1 collagen type III alpha 1 chain gene DOID:4195 hyperglycemia ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 71029 Col3a1 collagen type III alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1880254|PMID:2566230|PMID:11167689|PMID:15787813|PMID:16679477 71029 Col3a1 collagen type III alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 71029 Col3a1 collagen type III alpha 1 chain gene DOID:520 aortic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:10706896|PMID:18272325|PMID:19344236|PMID:24033266|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 71029 Col3a1 collagen type III alpha 1 chain gene DOID:5419 schizophrenia ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 71029 Col3a1 collagen type III alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 71029 Col3a1 collagen type III alpha 1 chain gene DOID:5844 myocardial infarction treatment IEP D RGD:11041598|PMID:25636075 20160324 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:630 genetic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1556139|PMID:16199547|PMID:17576681|PMID:24922459|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30115950|PMID:30374176 71029 Col3a1 collagen type III alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:737225 D RGD:7257553|PMID:19424605 20130823 RGD DNA:polymorphism: :p.I1205V (human) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9000058 Keloid ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9000808 Hypercholesterolemia ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:7240710 20190315 OMIM 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:11577371|PMID:12131463|PMID:17576681|PMID:18272325|PMID:19344236|PMID:19455184|PMID:2049575|PMID:21086191|PMID:21984974|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:25205403|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27964749|PMID:28258187|PMID:28492532|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29650765|PMID:30374176|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31719132|PMID:7695699|PMID:8218237|PMID:9050868|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9000955 Acute Otitis Media ISO RGD:8821097 D RGD:9068941 20200609 RGD PMID:10453785|REF_RGD_ID:11556224 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:737225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:10051163|PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:12694234|PMID:12786757|PMID:1352273|PMID:1357232|PMID:1370809|PMID:1496983|PMID:1556139|PMID:1568754|PMID:1619632|PMID:16199547|PMID:1672129|PMID:16751282|PMID:16863833|PMID:17053184|PMID:17122455|PMID:17224388|PMID:17251678|PMID:17576681|PMID:1757960|PMID:18043893|PMID:18272325|PMID:1895316|PMID:19011090|PMID:19248182|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19695909|PMID:1998337|PMID:19993915|PMID:2002056|PMID:20052764|PMID:2049575|PMID:20518783|PMID:20648054|PMID:21086191|PMID:2145268|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22610159|PMID:22647446|PMID:22696272|PMID:22713205|PMID:23148498|PMID:23234825|PMID:23293852|PMID:2349939|PMID:23587214|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:2492273|PMID:24932165|PMID:24951259|PMID:25149929|PMID:25205403|PMID:25326637|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:2583342|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26497932|PMID:26854089|PMID:27011056|PMID:2710295|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27611364|PMID:2771024|PMID:27888582|PMID:27964749|PMID:28035354|PMID:2808425|PMID:28087566|PMID:28166811|PMID:28258187|PMID:2834369|PMID:28349240|PMID:28492532|PMID:28655553|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29216800|PMID:29309923|PMID:29346445|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:2981879|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:3076851|PMID:30793832|PMID:30837697|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:3162228|PMID:31719132|PMID:31903434|PMID:3204406|PMID:32483363|PMID:33087929|PMID:33282382|PMID:34047934|PMID:6477831|PMID:6507506|PMID:7230200|PMID:7581395|PMID:7665911|PMID:7695699|PMID:7749417|PMID:7912131|PMID:8098182|PMID:8218237|PMID:8320698|PMID:8477261|PMID:8514866|PMID:8664902|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9147870|PMID:9399899|PMID:9536098|PMID:9546243|PMID:9841712 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737225 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11788567|PMID:25380136 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9001665 Aneurysm ISO RGD:737225 D RGD:1300382|PMID:2349939 19990101 RGD DNA:snp:intron:IVS20+1G>A (human) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9003139 Cardiac Fibrosis IEP D RGD:156430318|PMID:27318893 20230224 RGD protein:increased expression:blood serum (rat) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737225 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9004283 Transplant Rejection ISO RGD:737225 D RGD:7248773|PMID:20150539 20130819 RGD mRNA:increased expression:kidney 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737225 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9004563 Maxillofacial Abnormalities IDA D RGD:704391|PMID:10373016 19990101 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:737225 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9006325 Ventral Hernia treatment IDA D RGD:11041579|PMID:26578432 20160324 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:732584 D RGD:153350155|PMID:34238924 20220914 RGD mRNA:increased expression:lung (mouse) 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9006836 Contracture treatment IEP D RGD:11041578|PMID:26097527 20160324 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16679477 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AAT1 PMID:19344236|PMID:24922459|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:737225 D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9352 type 2 diabetes mellitus IEP D RGD:7257556|PMID:20836762 20130823 RGD 71029 Col3a1 collagen type III alpha 1 chain gene DOID:9452 fatty liver disease ISO RGD:737225 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15787813 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0060041 autism spectrum disorder ISO RGD:737453 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:737453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0060870 isolated growth hormone deficiency ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:7240710 20161109 OMIM 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25169753|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:30106381|PMID:30687093|PMID:31029150|PMID:33004838|PMID:33624935|PMID:35887114 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0080074 neural tube defect ISO RGD:737454 D RGD:2312793|PMID:15886480 20090903 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:1059 intellectual disability ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:10652 Alzheimer's disease ISO RGD:737454 D RGD:2312791|PMID:18199809 20090903 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:10652 Alzheimer's disease ISO RGD:737454 D RGD:2312792|PMID:17720885 20100108 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:10907 microcephaly ISO RGD:737453 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:12849 autistic disorder ISO RGD:737453 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:24531329|PMID:35982159 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:12849 autistic disorder ISO RGD:737453 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autism, severe PMID:25741868 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:1289 neurodegenerative disease ISO RGD:737454 D RGD:2312794|PMID:10037502 20090903 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:1459 hypothyroidism ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:1826 epilepsy ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:2303 stereotypic movement disorder ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:326 ischemia IDA D RGD:2312783|PMID:18414890 20090902 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:3454 brain infarction IDA D RGD:1358226|PMID:11935065 20090902 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:630 genetic disease ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:26637798|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:31029150|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9003676 Brain Hypoxia-Ischemia IDA D RGD:2312775|PMID:16938277 20090903 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737453 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9007621 Craniocerebral Trauma ISO RGD:737454 D RGD:2312784|PMID:11123362 20090902 RGD 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9008086 Developmental Disabilities ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 71030 Adnp activity-dependent neuroprotector homeobox gene DOID:9008091 Optic Nerve Injuries IDA D RGD:2312783|PMID:18414890 20090902 RGD 71031 Csnk1d casein kinase 1, delta gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:733311 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 71031 Csnk1d casein kinase 1, delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:7240710 20140911 OMIM 71031 Csnk1d casein kinase 1, delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 PMID:15800623|PMID:23636092 71031 Csnk1d casein kinase 1, delta gene DOID:10652 Alzheimer's disease ISO RGD:733311 D RGD:10395229|PMID:10514399 20150826 RGD protein:increased expression:CA1 field of hippocampus: 71031 Csnk1d casein kinase 1, delta gene DOID:10652 Alzheimer's disease severity ISO RGD:733311 D RGD:10395230|PMID:10814741 20150826 RGD mRNA,protein:increased expression:brain: 71031 Csnk1d casein kinase 1, delta gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:735980 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 71032 Folr1 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:7240710 20130221 OMIM 71032 Folr1 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:16199547|PMID:17576681|PMID:18842806|PMID:19732866|PMID:20018644|PMID:20683905|PMID:21752681|PMID:21937992|PMID:22586289|PMID:22695967|PMID:24091540|PMID:24556562|PMID:25741868|PMID:26467025|PMID:27328863|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28054128|PMID:28492532|PMID:29661558|PMID:29961769|PMID:9536098 71032 Folr1 folate receptor alpha gene DOID:0080074 neural tube defect ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 71032 Folr1 folate receptor alpha gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 71032 Folr1 folate receptor alpha gene DOID:1059 intellectual disability ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 71032 Folr1 folate receptor alpha gene DOID:1059 intellectual disability ISO RGD:1346305 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 71032 Folr1 folate receptor alpha gene DOID:1682 congenital heart disease ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17286298 71032 Folr1 folate receptor alpha gene DOID:1826 epilepsy ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 71032 Folr1 folate receptor alpha gene DOID:1826 epilepsy ISO RGD:1346305 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Seizure PMID:21937992|PMID:25741868|PMID:27535533|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769 71032 Folr1 folate receptor alpha gene DOID:3347 osteosarcoma ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17473184 71032 Folr1 folate receptor alpha gene DOID:480 movement disease ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 71032 Folr1 folate receptor alpha gene DOID:630 genetic disease ISO RGD:1346305 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16453285|PMID:18842806|PMID:20683905|PMID:21937992|PMID:22586289|PMID:22695967|PMID:23851396|PMID:23934049|PMID:25274592|PMID:25741868|PMID:26467025|PMID:27458733|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769|PMID:7578066|PMID:9063895 71032 Folr1 folate receptor alpha gene DOID:9001793 Generalized Epilepsy ISO RGD:1346305 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 71032 Folr1 folate receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17466904 71032 Folr1 folate receptor alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15705887|PMID:18926688 71032 Folr1 folate receptor alpha gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 71032 Folr1 folate receptor alpha gene DOID:9005835 Congenital Abnormalities ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20235221 71032 Folr1 folate receptor alpha gene DOID:9008514 Psychomotor Disorders ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 71032 Folr1 folate receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346305 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 71032 Folr1 folate receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346305 D RGD:8554872 20141209 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:0080773 delta beta-thalassemia ISO RGD:733793 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:10487 Hirschsprung's disease ISO RGD:733793 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:1227 neutropenia ISO RGD:733793 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:2355 anemia ISO RGD:733793 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733793 D RGD:9693698|PMID:10477737 19990101 RGD DNA:translocation:cds: (human) 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:614 lymphopenia ISO RGD:733793 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:630 genetic disease ISO RGD:733793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:9000647 Acute Erythroleukemia ISO RGD:733793 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 71033 Nup98 nucleoporin 98 and 96 precursor gene DOID:9119 acute myeloid leukemia ISO RGD:733793 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:0080000 muscular disease ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:10914 amnestic disorder IMP D RGD:6482184|PMID:18570192 20120413 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732164 D RGD:6482188|PMID:17267119 20120416 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1561 cognitive disorder IMP D RGD:6480666|PMID:21558435 20120329 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1574 alcohol use disorder ISO RGD:1346949 D RGD:150429835|PMID:21184583 20120413 RGD DNA:SNP:intron: (rs7916403) (human) 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:732164 D RGD:6482189|PMID:16828124 20120416 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1825 childhood absence epilepsy IMP D RGD:6480686|PMID:15050708 20120330 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1826 epilepsy ISO RGD:732164 D RGD:6482190|PMID:17485199 20120416 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder IMP D RGD:6482189|PMID:16828124 20120416 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:732164 D RGD:6482189|PMID:16828124 20120416 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:535 sleep disorder ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:5419 schizophrenia ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:630 genetic disease ISO RGD:1346949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:6364 migraine IMP D RGD:6482182|PMID:20236348 20120413 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:8927 learning disability ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9000641 Pain ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9000998 Brain Injuries IMP D RGD:6482178|PMID:22465320 20120413 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:6480665|PMID:21693130 20120329 RGD protein:decreased expression: : 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002211 Hyperalgesia IDA D RGD:6482179|PMID:21843960 20120413 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002211 Hyperalgesia IMP D RGD:6480665|PMID:21693130 20120329 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002362 Hyperkinesis ISO RGD:732164 D RGD:6482186|PMID:18332680 20120413 RGD 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9008023 Memory Disorders ISO RGD:1346949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 71034 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9778 irritable bowel syndrome IEP D RGD:6480673|PMID:18167178 20120330 RGD protein:increased expression:brain, intestine 71035 Cpb2 carboxypeptidase B2 gene DOID:0050855 renal fibrosis ISO RGD:736000 D RGD:7243118|PMID:17988229 20130506 RGD associated with Ureteral Obstruction; 71035 Cpb2 carboxypeptidase B2 gene DOID:1184 nephrotic syndrome ISO RGD:731734 D RGD:7243124|PMID:12439147 20130506 RGD protein:increased activity,increased expression:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:13241 Behcet's disease ISO RGD:731734 D RGD:1598474|PMID:15668188 20061130 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:13938 amenorrhea ISO RGD:731734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 71035 Cpb2 carboxypeptidase B2 gene DOID:2228 thrombocytosis ISO RGD:731734 D RGD:1598473|PMID:16244771 20061130 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:2921 glomerulonephritis ISO RGD:736000 D RGD:7243117|PMID:18612543 20130506 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:630 genetic disease ISO RGD:731734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71035 Cpb2 carboxypeptidase B2 gene DOID:784 chronic kidney disease ISO RGD:731734 D RGD:7243119|PMID:19056482 20130506 RGD DNA:polymorphism:cds :p.A147T(rs3742264)(human) 71035 Cpb2 carboxypeptidase B2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731734 D RGD:7243121|PMID:17327284 20130506 RGD DNA:polymorphism: ;1542C>G(human) 71035 Cpb2 carboxypeptidase B2 gene DOID:9000483 Angina Pectoris ISO RGD:731734 D RGD:1598479|PMID:12624641 20061130 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:9000808 Hypercholesterolemia ISO RGD:731734 D RGD:2313641|PMID:16123492 20091006 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731734 D RGD:7243123|PMID:12574207 20130506 RGD protein:increased expression:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:731734 D RGD:7243116|PMID:22932273 20130506 RGD DNA:SNP:cds:1040C>T(human) 71035 Cpb2 carboxypeptidase B2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:7243111|PMID:22768796 20130503 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:9002906 Multiple Organ Failure IMP D RGD:7243114|PMID:19325462 20130503 RGD associated with sepsis, endotoxemia; 71035 Cpb2 carboxypeptidase B2 gene DOID:9003121 Thromboembolism ISO RGD:731734 D RGD:1598476|PMID:14739223 20061130 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:9004484 Sepsis IEP D RGD:2313648|PMID:15497025 20160425 RGD protein:increased activity:plasma: 71035 Cpb2 carboxypeptidase B2 gene DOID:9005036 Bacteremia IEP D RGD:2313646|PMID:17911187 20091006 RGD protein:decreased activity:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury IEP D RGD:7243112|PMID:19386599 20130503 RGD mRNA,protein:increased expression,increased activity:liver,plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9007692 Insulin Resistance ISO RGD:731734 D RGD:2313645|PMID:11836301 20091006 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9007730 Burns IDA D RGD:2313648|PMID:15497025 20091006 RGD protein:increased activity:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9008366 Meningococcal Infections ISO RGD:731734 D RGD:1598478|PMID:14717966 20061130 RGD 71035 Cpb2 carboxypeptidase B2 gene DOID:9351 diabetes mellitus ISO RGD:731734 D RGD:2313643|PMID:14983223 20091006 RGD protein:increased expression, increased activity:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731734 D RGD:2313645|PMID:11836301 20091006 RGD protein:increased expression, increased activity:plasma 71035 Cpb2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16959692 71035 Cpb2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:2313645|PMID:11836301 20091006 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma 71036 Mepe matrix extracellular phosphoglycoprotein gene DOID:10573 osteomalacia ISO RGD:736255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11414762 71036 Mepe matrix extracellular phosphoglycoprotein gene DOID:630 genetic disease ISO RGD:736255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71036 Mepe matrix extracellular phosphoglycoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736255 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 71036 Mepe matrix extracellular phosphoglycoprotein gene DOID:9002589 Bone Fractures ISO RGD:736255 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 71037 Prlhr prolactin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:732732 D RGD:1641832|PMID:14691196 20070823 RGD DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human) 71037 Prlhr prolactin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:732732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71037 Prlhr prolactin releasing hormone receptor gene DOID:9970 obesity IAGP D RGD:1641829|PMID:15854142 20070823 RGD 71038 Gdf9 growth differentiation factor 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 71038 Gdf9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:7240710 20190315 OMIM 71038 Gdf9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 14 PMID:25741868|PMID:29044499|PMID:34008892 71038 Gdf9 growth differentiation factor 9 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736579 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 71038 Gdf9 growth differentiation factor 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:736579 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 71038 Gdf9 growth differentiation factor 9 gene DOID:5426 primary ovarian insufficiency ISO RGD:736579 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 71038 Gdf9 growth differentiation factor 9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736579 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 71038 Gdf9 growth differentiation factor 9 gene DOID:630 genetic disease ISO RGD:736579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71038 Gdf9 growth differentiation factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736579 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71038 Gdf9 growth differentiation factor 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 71039 Mgll monoglyceride lipase gene DOID:0111947 immunodeficiency 21 ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 71039 Mgll monoglyceride lipase gene DOID:11476 osteoporosis ISO RGD:734078 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 71039 Mgll monoglyceride lipase gene DOID:13938 amenorrhea ISO RGD:734078 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 71039 Mgll monoglyceride lipase gene DOID:5082 liver cirrhosis ISO RGD:734078 D RGD:11554173 20201217 CTD CTD Direct Evidence: therapeutic PMID:30301768 71039 Mgll monoglyceride lipase gene DOID:630 genetic disease ISO RGD:734078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71039 Mgll monoglyceride lipase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 71039 Mgll monoglyceride lipase gene DOID:9270 alkaptonuria ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 71040 Txn2 thioredoxin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 71040 Txn2 thioredoxin 2 gene DOID:0080016 spina bifida ISO RGD:737462 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19165900 71040 Txn2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:7240710 20190315 OMIM 71040 Txn2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 PMID:25741868|PMID:26626369|PMID:28492532 71040 Txn2 thioredoxin 2 gene DOID:630 genetic disease ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 71040 Txn2 thioredoxin 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5685030|PMID:19128823 20090324 RGD mRNA:decreased expression:cerebral cortex 71040 Txn2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2306161|PMID:15039483 20090325 RGD mRNA:increased expression:glomerulus 71040 Txn2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5133714|PMID:20571744 20110627 RGD mRNA:altered expression:myocardium (rat) 71040 Txn2 thioredoxin 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2306159|PMID:18045550 20090325 RGD mRNA, protein:decreased expression:heart 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:1540 parathyroid carcinoma ISO RGD:1346161 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:630 genetic disease ISO RGD:1346161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:9003871 Venous Thrombosis ISO RGD:1346161 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16767100 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1346161 D RGD:7240710 20151216 OMIM 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:16767100|PMID:17442906|PMID:25293775|PMID:28492532|PMID:31445883 71041 Pigm phosphatidylinositol glycan anchor biosynthesis, class M gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346161 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050549 Saldino-Noonan syndrome ISO RGD:1606227 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Saldino-Noonan Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606227 D RGD:11072153|PMID:22499340 20230303 RGD DNA:missense mutations:cds:multiple(human) 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22499340 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24759409|PMID:24781753|PMID:25356970|PMID:25492405|PMID:25741868|PMID:25982780|PMID:26826164|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29096039|PMID:29453417|PMID:29620724|PMID:29947050|PMID:30655312|PMID:30773290|PMID:31413057|PMID:31415973|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33875766|PMID:9536098 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0080006 bone development disease ISO RGD:1606227 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1606227 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:7240710 20151014 OMIM 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24759409|PMID:25326635|PMID:25356970|PMID:25741868|PMID:25741887|PMID:25741891|PMID:26826164|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29453417|PMID:29947050|PMID:30655312|PMID:30773290|PMID:31415973|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33532864|PMID:33875766|PMID:9536098 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:23339108|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29068549|PMID:32753734 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:16199547|PMID:23339108|PMID:28492532|PMID:29068549|PMID:32753734 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1606227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606227 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:32753734 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1606227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22499340|PMID:25741868|PMID:26938784|PMID:28492532|PMID:28832562|PMID:29068549|PMID:29453417 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1606227 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868|PMID:28492532|PMID:29068549 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:14679 VACTERL association ISS RGD:735308 D RGD:13592920 20180518 MouseDO OMIM:192350 | OMIM:276950 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1682 congenital heart disease ISO RGD:1606227 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:29458881|PMID:31680349 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1606227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19442771|PMID:23339108|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28973083|PMID:9536098 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606227 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9005616 Micrognathism ISO RGD:1606227 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9007073 Cough ISO RGD:1606227 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532|PMID:29068549 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606227 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 71042 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:26826164|PMID:28492532|PMID:29068549 71043 Cdc42 cell division cycle 42 gene DOID:0060369 Parkinson's disease 6 ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 71043 Cdc42 cell division cycle 42 gene DOID:0060775 microvillus inclusion disease ISS RGD:730977 D RGD:13592920 20180518 MouseDO OMIM:251850 71043 Cdc42 cell division cycle 42 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:730976 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 71043 Cdc42 cell division cycle 42 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 71043 Cdc42 cell division cycle 42 gene DOID:10652 Alzheimer's disease ISO RGD:730976 D RGD:5688277|PMID:10817927 20120223 RGD 71043 Cdc42 cell division cycle 42 gene DOID:1793 pancreatic cancer severity ISO RGD:730976 D RGD:13452244|PMID:28181096 20171116 RGD mRNA, protein:increased expression:pancreas (human) 71043 Cdc42 cell division cycle 42 gene DOID:305 carcinoma ISO RGD:730976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 71043 Cdc42 cell division cycle 42 gene DOID:3312 bipolar disorder ISO RGD:730976 D RGD:5688274|PMID:18391128 20120223 RGD 71043 Cdc42 cell division cycle 42 gene DOID:3328 temporal lobe epilepsy IEP D RGD:5688272|PMID:19700661 20120223 RGD 71043 Cdc42 cell division cycle 42 gene DOID:3355 fibrosarcoma ISO RGD:730976 D RGD:5688275|PMID:17971488 20120223 RGD 71043 Cdc42 cell division cycle 42 gene DOID:4483 rhinitis ISO RGD:730976 D RGD:5688273|PMID:19432938 20120223 RGD mRNA:increased expression:nasal turbinate 71043 Cdc42 cell division cycle 42 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 71043 Cdc42 cell division cycle 42 gene DOID:630 genetic disease ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 71043 Cdc42 cell division cycle 42 gene DOID:674 cleft palate ISS RGD:730977 D RGD:13592920 20220922 MouseDO 71043 Cdc42 cell division cycle 42 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:5688276|PMID:15736231 20120223 RGD mRNA:increased expression:spinal cord 71043 Cdc42 cell division cycle 42 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:730976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 71043 Cdc42 cell division cycle 42 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 71043 Cdc42 cell division cycle 42 gene DOID:9002457 Experimental Arthritis ISO RGD:730977 D RGD:5688271|PMID:21266780 20120223 RGD protein:increased activation:bone marrow, macrophage 71043 Cdc42 cell division cycle 42 gene DOID:9003091 Noonan Like Syndrome ISO RGD:730976 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:25741868|PMID:29394990 71043 Cdc42 cell division cycle 42 gene DOID:9004009 Reperfusion Injury IDA D RGD:2298583|PMID:17161586 20120223 RGD protein:increased activation:hippocampus CA1 71043 Cdc42 cell division cycle 42 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 71043 Cdc42 cell division cycle 42 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 71043 Cdc42 cell division cycle 42 gene DOID:9005749 Necrosis ISO RGD:730976 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19430526 71043 Cdc42 cell division cycle 42 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 71043 Cdc42 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:7240710 20160217 OMIM 71043 Cdc42 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 71044 Cnn3 calponin 3 gene DOID:305 carcinoma ISO RGD:731963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 71044 Cnn3 calponin 3 gene DOID:630 genetic disease ISO RGD:731963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71044 Cnn3 calponin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 71044 Cnn3 calponin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 71044 Cnn3 calponin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 71045 Gpr19 G protein-coupled receptor 19 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES PMID:28492532 71045 Gpr19 G protein-coupled receptor 19 gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:1344105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:28492532 71045 Gpr19 G protein-coupled receptor 19 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 PMID:28492532 71045 Gpr19 G protein-coupled receptor 19 gene DOID:630 genetic disease ISO RGD:1344105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71046 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:737376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 71046 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:2377 multiple sclerosis ISO RGD:737376 D RGD:14390079|PMID:25216636 20190219 RGD mRNA:increased expression:white matter 71046 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:737376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71046 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737377 D RGD:14390079|PMID:25216636 20190219 RGD mRNA:increased expression:astrocyte 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:1059 intellectual disability ISO RGD:736258 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:1826 epilepsy ISO RGD:736258 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736258 D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:7240710 20130731 OMIM 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:33773408|PMID:34755096|PMID:9771710|PMID:9931343 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:630 genetic disease ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:16021330|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18414213|PMID:20738377|PMID:21623095|PMID:21652633|PMID:22618127|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30947044|PMID:31493945|PMID:33773408|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:83 cataract ISO RGD:736258 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:31493945|PMID:9536098|PMID:9771710|PMID:9931343 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18311786|PMID:18414213|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30041081|PMID:9536098|PMID:9771710|PMID:9931343 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:34117373|PMID:9536098|PMID:9771710|PMID:9931343 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:33773408|PMID:34117373|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:9685621|PMID:9771710 19990101 RGD 71047 Epm2a EPM2A glucan phosphatase, laforin gene DOID:9006534 Nervous System Malformations ISO RGD:736258 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 71048 Ap2b1 adaptor related protein complex 2 subunit beta 1 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:734047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 71048 Ap2b1 adaptor related protein complex 2 subunit beta 1 gene DOID:3525 middle cerebral artery infarction IEP D RGD:13461853|PMID:19240038 20171129 RGD protein:increased degradation:brain 71048 Ap2b1 adaptor related protein complex 2 subunit beta 1 gene DOID:630 genetic disease ISO RGD:734047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71049 Hnmt histamine N-methyltransferase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:733644 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 71049 Hnmt histamine N-methyltransferase gene DOID:0060500 drug allergy ISO RGD:733644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 71049 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 PMID:25741868|PMID:26206890|PMID:28492532 71049 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 susceptibility ISO RGD:733644 D RGD:7240710 20230517 OMIM 71049 Hnmt histamine N-methyltransferase gene DOID:11870 Pick's disease ISO RGD:733644 D RGD:5509779|PMID:11880199 20111103 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:12858 Huntington's disease ISO RGD:733644 D RGD:5509774|PMID:21106039 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:14250 Down syndrome ISO RGD:733644 D RGD:5509779|PMID:11880199 20111103 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:14330 Parkinson's disease ISO RGD:733644 D RGD:5509778|PMID:17985251 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:14330 Parkinson's disease no_association ISO RGD:733644 D RGD:5509775|PMID:19773194 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:1555 urticaria ISO RGD:733644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17651147 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:5128881|PMID:10803682 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:5128883|PMID:21040557 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10752634|PMID:10803682|PMID:16205835 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:5128885|PMID:17651147 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:5128887|PMID:16205835 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:5128888|PMID:15693910 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:2841 asthma susceptibility ISO RGD:733644 D RGD:7240710 20230517 OMIM 71049 Hnmt histamine N-methyltransferase gene DOID:3310 atopic dermatitis ISO RGD:733644 D RGD:5128889|PMID:19025430 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:3454 brain infarction severity IMP D RGD:5509772|PMID:21131122 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:3454 brain infarction severity IMP D RGD:5509773|PMID:16330002 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:4483 rhinitis ISO RGD:733644 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17651147 71049 Hnmt histamine N-methyltransferase gene DOID:4483 rhinitis no_association ISO RGD:733644 D RGD:5128885|PMID:17651147 20110322 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:4990 essential tremor ISO RGD:733644 D RGD:5509776|PMID:18543121 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:4990 essential tremor no_association ISO RGD:733644 D RGD:5509775|PMID:19773194 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:5419 schizophrenia no_association ISO RGD:733644 D RGD:5509780|PMID:10898922 20111103 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:733644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71049 Hnmt histamine N-methyltransferase gene DOID:8577 ulcerative colitis ISO RGD:733644 D RGD:5509777|PMID:18340362 20111102 RGD 71049 Hnmt histamine N-methyltransferase gene DOID:9000772 Bronchial Hyperreactivity no_association ISO RGD:733644 D RGD:5128888|PMID:15693910 20110322 RGD 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345110 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466187 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocrine-cerebro-osteodysplasia syndrome PMID:19185282|PMID:25741868|PMID:25741883|PMID:27069622|PMID:28492532 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome susceptibility ISO RGD:1345110 D RGD:7240710 20230517 OMIM 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:0111325 juvenile myoclonic epilepsy 10 susceptibility ISO RGD:1345110 D RGD:7240710 20230517 OMIM 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:12270 coloboma ISO RGD:1345110 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:1826 epilepsy ISO RGD:1345110 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532|PMID:29539279 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 PMID:25741868|PMID:28492532|PMID:29539279|PMID:32178256 71050 Cilk1 ciliogenesis associated kinase 1 gene DOID:630 genetic disease ISO RGD:1345110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71051 Bet1l Bet1 golgi vesicular membrane trafficking protein-like gene DOID:13223 uterine fibroid ISO RGD:1602713 D RGD:14394614|PMID:23892540 20190329 RGD DNA:SNP:rs2280543(human) 71051 Bet1l Bet1 golgi vesicular membrane trafficking protein-like gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:1602713 D RGD:14394612|PMID:28654152 20190329 RGD 71051 Bet1l Bet1 golgi vesicular membrane trafficking protein-like gene DOID:630 genetic disease ISO RGD:1602713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71052 Fgf16 fibroblast growth factor 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733065 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 71052 Fgf16 fibroblast growth factor 16 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733065 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 71052 Fgf16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:7240710 20141216 OMIM 71052 Fgf16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 8 PMID:23709756|PMID:24878828 71052 Fgf16 fibroblast growth factor 16 gene DOID:12849 autistic disorder ISO RGD:733065 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 71054 Arpp19 cAMP-regulated phosphoprotein 19 gene DOID:2717 Bloom syndrome ISO RGD:1606318 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 71054 Arpp19 cAMP-regulated phosphoprotein 19 gene DOID:607 paraplegia ISO RGD:1606318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 71054 Arpp19 cAMP-regulated phosphoprotein 19 gene DOID:630 genetic disease ISO RGD:1606318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71054 Arpp19 cAMP-regulated phosphoprotein 19 gene DOID:9256 colorectal cancer ISO RGD:1606318 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 71056 Pias2 protein inhibitor of activated STAT, 2 gene DOID:0060356 Vici syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 71056 Pias2 protein inhibitor of activated STAT, 2 gene DOID:1059 intellectual disability ISO RGD:1603704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 71056 Pias2 protein inhibitor of activated STAT, 2 gene DOID:630 genetic disease ISO RGD:1603704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71056 Pias2 protein inhibitor of activated STAT, 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1603704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 71057 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:2983 anuria treatment ISO RGD:735403 D RGD:39128183|PMID:27782167 20200927 RGD 71057 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:630 genetic disease ISO RGD:735402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71057 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 71057 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000918 Disease Progression ISO RGD:735402 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:10283 prostate cancer ISO RGD:733485 D RGD:10054425|PMID:19401687 20150805 RGD protein:increased expression:prostate gland (human) 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:10300 Raynaud disease ISO RGD:733485 D RGD:155260370|PMID:25172934 20221007 RGD 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:1059 intellectual disability ISO RGD:733485 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733486 D RGD:10058964|PMID:19323997 20150811 RGD protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:630 genetic disease ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26173930|PMID:36130591 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:733485 D RGD:155260371|PMID:21489814 20221007 RGD 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9002234 Pituitary Neoplasms IEP D RGD:10058970|PMID:12716410 20150811 RGD mRNA:decreased expression:pituitary gland (rat) 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733486 D RGD:10054424|PMID:22015967 20150805 RGD protein:increased expression:prostate gland (mouse) 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:7240710 20160210 OMIM 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AU-KLINE SYNDROME PMID:18414213|PMID:25741868|PMID:26173930|PMID:26220823|PMID:26954065|PMID:28374925|PMID:28771707|PMID:29904177|PMID:30998304|PMID:36130591 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9005603 Muscle Hypotonia ISO RGD:733485 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9005643 Experimental Diabetes Mellitus treatment IDA D RGD:10002795|PMID:16837467 20150428 RGD 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9005775 Perinatal Asphyxia treatment IEP D RGD:155269042|PMID:33951501 20221011 RGD 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9008939 Breast Neoplasms ISO RGD:733485 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9256 colorectal cancer severity ISO RGD:733485 D RGD:9999439|PMID:21194727 20150420 RGD protein:increased expression:colonic epithelium, cytoplasm (human) 71058 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:936 brain disease ISO RGD:733485 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:737263 D RGD:9999426|PMID:22245417 20150420 RGD protein:decreased expression:testis (human) 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:1319 brain cancer susceptibility ISO RGD:737263 D RGD:10002773|PMID:15543619 20150424 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:1324 lung cancer severity ISO RGD:737263 D RGD:9999427|PMID:20972334 20150420 RGD human gene in a mouse model 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:418 systemic scleroderma ISO RGD:737263 D RGD:9999440|PMID:21569507 20150420 RGD 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:630 genetic disease ISO RGD:737263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:684 hepatocellular carcinoma ISO RGD:737263 D RGD:9999429|PMID:24125732 20150420 RGD associated with Hepatitis B 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9000217 Stomach Neoplasms ISO RGD:737263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9000918 Disease Progression ISO RGD:737263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9008939 Breast Neoplasms ISO RGD:737263 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 71059 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9352 type 2 diabetes mellitus ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 71060 Heph hephaestin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734284 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 71060 Heph hephaestin gene DOID:12849 autistic disorder ISO RGD:734284 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 71060 Heph hephaestin gene DOID:1686 glaucoma ISO RGD:734284 D RGD:155630605|PMID:28990066 20221025 RGD mRNA:increased expression:optic nerve head (human) 71060 Heph hephaestin gene DOID:1790 malignant mesothelioma ISO RGD:734284 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 71060 Heph hephaestin gene DOID:630 genetic disease ISO RGD:734284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71061 Kynu kynureninase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:734173 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 71061 Kynu kynureninase gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:734173 D RGD:8554872 20170620 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 71061 Kynu kynureninase gene DOID:0081122 Catel Manzke syndrome ISO RGD:734173 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME PMID:25741868|PMID:31923704|PMID:33942433 71061 Kynu kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17334708 71061 Kynu kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:7240710 20141126 OMIM 71061 Kynu kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydroxykynureninuria PMID:17334708|PMID:25741868 71061 Kynu kynureninase gene DOID:10763 hypertension IAGP D RGD:631322|PMID:11924719 20180731 RGD 71061 Kynu kynureninase gene DOID:1289 neurodegenerative disease ISO RGD:734173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 71061 Kynu kynureninase gene DOID:630 genetic disease ISO RGD:734173 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 71061 Kynu kynureninase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 71061 Kynu kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:7240710 20190315 OMIM 71061 Kynu kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 PMID:25741868|PMID:28792876|PMID:34200361 71061 Kynu kynureninase gene DOID:9005372 Inflammation ISO RGD:734173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 71062 Asic1 acid sensing ion channel subunit 1 gene DOID:1826 epilepsy ISO RGD:731360 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 71062 Asic1 acid sensing ion channel subunit 1 gene DOID:2316 brain ischemia ISO RGD:731360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 71062 Asic1 acid sensing ion channel subunit 1 gene DOID:630 genetic disease ISO RGD:731360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71062 Asic1 acid sensing ion channel subunit 1 gene DOID:9000998 Brain Injuries ISO RGD:731360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 71062 Asic1 acid sensing ion channel subunit 1 gene DOID:9005372 Inflammation ISO RGD:731360 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 71063 Serpinb7 serpin family B member 7 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:736732 D RGD:7207386|PMID:16782060 20130130 RGD 71063 Serpinb7 serpin family B member 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 71063 Serpinb7 serpin family B member 7 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:736732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 71063 Serpinb7 serpin family B member 7 gene DOID:10952 nephritis IEP D RGD:70611|PMID:11473647 20130130 RGD 71063 Serpinb7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis ISO RGD:736732 D RGD:7207380|PMID:16796905 20130130 RGD DNA:SNP:5' utr, exon:267G>A (human) 71063 Serpinb7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:7207366|PMID:18793525 20130130 RGD DNA:SNPs:3' utr:2093C>T, 2180C>T (human) 71063 Serpinb7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:7207372|PMID:16550745 20130130 RGD DNA:SNP: :23167A>G (human) 71063 Serpinb7 serpin family B member 7 gene DOID:630 genetic disease ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 71063 Serpinb7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:7240710 20140911 OMIM 71063 Serpinb7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type PMID:24207119|PMID:24514002|PMID:24773080|PMID:25741868|PMID:27543371|PMID:27666198|PMID:28492532 71063 Serpinb7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:7207374|PMID:16443768 20130130 RGD associated with Diabetes Mellitus, Type 1 71063 Serpinb7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:7207378|PMID:19690890 20130130 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human) 71064 Bag6 BAG cochaperone 6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733092 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:31474318 71064 Bag6 BAG cochaperone 6 gene DOID:0050553 JMP syndrome ISO RGD:733092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 71064 Bag6 BAG cochaperone 6 gene DOID:11372 megacolon ISO RGD:733092 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 71064 Bag6 BAG cochaperone 6 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733092 D RGD:14390136|PMID:25884493 20190220 RGD DNA:SNP: :rs3117582(human) 71064 Bag6 BAG cochaperone 6 gene DOID:630 genetic disease ISO RGD:733092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71064 Bag6 BAG cochaperone 6 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733092 D RGD:14390133|PMID:25231575 20190220 RGD DNA:SNP: :rs3117582(human) 71064 Bag6 BAG cochaperone 6 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:733092 D RGD:14390152|PMID:25111513 20190221 RGD DNA:haplotype: :rs10484558(human) 71064 Bag6 BAG cochaperone 6 gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:733092 D RGD:14390153|PMID:28197361 20190221 RGD 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737126 D RGD:8554872 20160308 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0050451 Brugada syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25637381|PMID:25741868|PMID:28341588|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0050700 cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23623143|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27182706|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28341588|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0060224 atrial fibrillation ISO RGD:737126 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:30061737 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0060224 atrial fibrillation ISO RGD:737126 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:737126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0060319 cardiac arrest ISO RGD:737126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0060480 left ventricular noncompaction ISO RGD:737126 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:7240710 20130425 OMIM 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:12750403|PMID:15123648|PMID:16199547|PMID:17576681|PMID:17646576|PMID:19165230|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:22840528|PMID:23075627|PMID:23178648|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:25865493|PMID:26206080|PMID:26383259|PMID:26467025|PMID:26688388|PMID:26704558|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28750076|PMID:28803248|PMID:28855170|PMID:29032884|PMID:29247119|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30391667|PMID:30452770|PMID:30471092|PMID:30578647|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30986657|PMID:31043699|PMID:31731876|PMID:31737537|PMID:32577394|PMID:32600061|PMID:32659924|PMID:33008772|PMID:33082984|PMID:33500567|PMID:33587123|PMID:34088380|PMID:9536098 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:737126 D RGD:9693691|PMID:22683190 20150211 RGD 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:28803248|PMID:29255176 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737126 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28341588|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:2717 Bloom syndrome ISO RGD:737126 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:2843 long QT syndrome ISO RGD:737126 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:3320 Tay-Sachs disease ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:5419 schizophrenia ISO RGD:737126 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:6000 congestive heart failure ISO RGD:737126 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:630 genetic disease ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532|PMID:32659924 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17646576|PMID:20662977|PMID:24569893|PMID:25741868|PMID:26688388|PMID:28492532|PMID:28803248|PMID:28807990|PMID:28855170|PMID:32600061|PMID:33082984|PMID:34540771 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:7240710 20230505 OMIM 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:23623143|PMID:24033266|PMID:24607718|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27182706|PMID:28254189|PMID:28341588|PMID:28492532|PMID:28803248|PMID:29255176|PMID:30196304|PMID:30452770 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737126 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28341588|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:7240710 20130221 OMIM 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:12750403|PMID:15123648|PMID:16407510|PMID:17576681|PMID:17646576|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:23075627|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26206080|PMID:26467025|PMID:26688388|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28803248|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30452770|PMID:30471092|PMID:30847666|PMID:31043699|PMID:33500567|PMID:9536098 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9693689|PMID:19471099 20150211 RGD mRNA,protein:increased expression:myocyte: 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17576681|PMID:19165230|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:30986657|PMID:9536098 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737126 D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:24569893|PMID:25145517|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26467025|PMID:28492532 71065 Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 gene DOID:9256 colorectal cancer ISO RGD:737126 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 71066 Lrrn3 leucine rich repeat neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734364 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 71066 Lrrn3 leucine rich repeat neuronal 3 gene DOID:0111275 speech-language disorder-1 ISO RGD:734364 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 71066 Lrrn3 leucine rich repeat neuronal 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734364 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 71066 Lrrn3 leucine rich repeat neuronal 3 gene DOID:5419 schizophrenia ISO RGD:734364 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 71066 Lrrn3 leucine rich repeat neuronal 3 gene DOID:630 genetic disease ISO RGD:734364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71067 Gpr27 G protein-coupled receptor 27 gene DOID:1790 malignant mesothelioma ISO RGD:733557 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 71067 Gpr27 G protein-coupled receptor 27 gene DOID:630 genetic disease ISO RGD:733557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71068 Fgf20 fibroblast growth factor 20 gene DOID:0060892 late onset Parkinson's disease ISO RGD:731457 D RGD:8554872 20150609 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:18252210|PMID:19133659 71068 Fgf20 fibroblast growth factor 20 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:731457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 71068 Fgf20 fibroblast growth factor 20 gene DOID:630 genetic disease ISO RGD:731457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71068 Fgf20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:7240710 20140911 OMIM 71068 Fgf20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 PMID:22698282|PMID:25741868|PMID:28492532 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1316933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1316933 D RGD:11344967|PMID:27282998 20160711 RGD DNA:SNP: :rs1801274 (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0060060 non-Hodgkin lymphoma disease_progression ISO RGD:1316933 D RGD:11040778|PMID:25850245 20160315 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0060903 thrombosis ISO RGD:1316933 D RGD:11040996|PMID:18983497 20160318 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0060903 thrombosis ISO RGD:1316933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11588041 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0060903 thrombosis ISO RGD:1316933 D RGD:5147987|PMID:20585032 20110830 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0060903 thrombosis no_association ISO RGD:1316933 D RGD:5147983|PMID:9002937 20110830 RGD associated with Thrombocytopenia;DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0080162 lupus nephritis ISO RGD:1316933 D RGD:5147975|PMID:15004265 20110830 RGD DNA:missense mutation:cds:p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0080162 lupus nephritis ISO RGD:1316933 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Lupus nephritis, susceptibility to PMID:10675363|PMID:15367919|PMID:19915573|PMID:19965803|PMID:24033266|PMID:8636449|PMID:9843982 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0080179 haemophilus meningitis susceptibility ISO RGD:1316933 D RGD:11040885|PMID:8648541 20160316 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1037 lymphoid leukemia no_association ISO RGD:1316933 D RGD:11344968|PMID:15217834 20160711 RGD DNA:polymorphism:exon:p.H131A (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1037 lymphoid leukemia treatment ISO RGD:1316933 D RGD:11344969|PMID:20705761 20160711 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1098 fetal erythroblastosis ISO RGD:1316933 D RGD:11100009|PMID:19129718 20160613 RGD DNA:polymorphism: : 71069 Fcgr2a Fc gamma receptor 2A gene DOID:11832 visual epilepsy susceptibility ISO RGD:1316933 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12134 factor VIII deficiency susceptibility ISO RGD:1316933 D RGD:11040767|PMID:24916518 20160315 RGD DNA:SNP:cds:p.R131H (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12177 common variable immunodeficiency ISO RGD:1316933 D RGD:5147988|PMID:17900300 20110830 RGD protein:decreased expression:blood, monocyte 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12205 dengue disease severity ISO RGD:1316933 D RGD:13463456|PMID:26240159 20171214 RGD DNA:polymorphism:cds:p.H131R(human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1316933 D RGD:11040906|PMID:22817980 20160316 RGD DNA:polymorphism:cds:p.H131R(human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1227 neutropenia ISO RGD:1316933 D RGD:11040988|PMID:11295474 20160318 RGD DNA:SNP:cds:p.R131H (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12365 malaria ISO RGD:1316933 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12365 malaria ISO RGD:1316933 D RGD:5147921|PMID:19965803 20110829 RGD DNA:missense mutation:cds:p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12365 malaria ISO RGD:1316933 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to PMID:10675363|PMID:15367919|PMID:19915573|PMID:19965803|PMID:24033266|PMID:8636449|PMID:9843982 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12365 malaria susceptibility ISO RGD:1316933 D RGD:7240710 20190502 OMIM 71069 Fcgr2a Fc gamma receptor 2A gene DOID:12894 Sjogren's syndrome ISO RGD:1316933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 71069 Fcgr2a Fc gamma receptor 2A gene DOID:13139 crescentic glomerulonephritis IAGP D RGD:2293335|PMID:16482158 20160318 RGD DNA:CNV:3'UTR: 71069 Fcgr2a Fc gamma receptor 2A gene DOID:13375 temporal arteritis ISO RGD:1316933 D RGD:5147974|PMID:16846526 20110830 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:13378 Kawasaki disease ISO RGD:1316933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22081228|PMID:22446962 71069 Fcgr2a Fc gamma receptor 2A gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:1316933 D RGD:5147927|PMID:18194515 20110829 RGD DNA:missense mutation:cds:p.R131H (rs1801274) (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1485 cystic fibrosis ISO RGD:1316933 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1485 cystic fibrosis ISO RGD:1316933 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis PMID:10675363|PMID:15367919|PMID:19915573|PMID:19965803|PMID:24033266|PMID:25741868|PMID:8636449|PMID:9843982 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1316933 D RGD:7240710 20230505 OMIM 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1316933 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1556 arthus reaction treatment ISO RGD:1316933 D RGD:9588604|PMID:10762218 20141103 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1579 respiratory system disease susceptibility ISO RGD:1316933 D RGD:4144095|PMID:16550341 20180831 RGD DNA:missense mutation:cds:p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1580 diffuse scleroderma ISO RGD:1316933 D RGD:5147984|PMID:8254199 20110830 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1588 thrombocytopenia ISO RGD:1316933 D RGD:11040944|PMID:10201963 20160317 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1588 thrombocytopenia ISO RGD:1316933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11588041 71069 Fcgr2a Fc gamma receptor 2A gene DOID:1936 atherosclerosis onset ISO RGD:1316933 D RGD:5147923|PMID:19490059 20110829 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:2377 multiple sclerosis no_association ISO RGD:1316933 D RGD:5147977|PMID:12864991 20110830 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:2841 asthma ISO RGD:1316933 D RGD:5147982|PMID:9117017 20110830 RGD protein:increased expression:alveolar macrophage 71069 Fcgr2a Fc gamma receptor 2A gene DOID:2921 glomerulonephritis ISO RGD:736451 D RGD:5508439|PMID:19050295 20111018 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:3310 atopic dermatitis ISO RGD:736451 D RGD:5508430|PMID:19414806 20111017 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:3310 atopic dermatitis severity ISO RGD:1316933 D RGD:5147985|PMID:7564170 20110830 RGD protein:increased expression:eosinophil 71069 Fcgr2a Fc gamma receptor 2A gene DOID:3393 coronary artery disease ISO RGD:1316933 D RGD:5147917|PMID:20973705 20110829 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:583 hemolytic anemia ISO RGD:1316933 D RGD:11040945|PMID:15982355 20160317 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:614 lymphopenia susceptibility ISO RGD:1316933 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:630 genetic disease ISO RGD:1316933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71069 Fcgr2a Fc gamma receptor 2A gene DOID:7148 rheumatoid arthritis ISO RGD:1316933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 71069 Fcgr2a Fc gamma receptor 2A gene DOID:7148 rheumatoid arthritis ISO RGD:1316933 D RGD:5147978|PMID:12508778 20110830 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:7148 rheumatoid arthritis ISO RGD:1316933 D RGD:5147984|PMID:8254199 20110830 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:718 autoimmune hemolytic anemia ISO RGD:736451 D RGD:11040887|PMID:18209093 20160316 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:718 autoimmune hemolytic anemia ISO RGD:736451 D RGD:11054970|PMID:9834201 20160713 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8398 osteoarthritis ISO RGD:1316933 D RGD:5147984|PMID:8254199 20110830 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8552 chronic myeloid leukemia ISO RGD:1316933 D RGD:11344957|PMID:8632671 20160711 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8577 ulcerative colitis ISO RGD:1316933 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:19915573|PMID:20228799 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8577 ulcerative colitis ISO RGD:1316933 D RGD:5147922|PMID:19915573 20110829 RGD DNA:SNP: :rs1801274 (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1316933 D RGD:5147918|PMID:20848524 20110829 RGD DNA:polymorphism: :p.A519G (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:874 bacterial pneumonia ISO RGD:736451 D RGD:5129707|PMID:17975174 20111018 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8778 Crohn's disease susceptibility ISO RGD:1316933 D RGD:5147918|PMID:20848524 20110829 RGD DNA:polymorphism: :p.A519G (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8893 psoriasis ISO RGD:1316933 D RGD:5147919|PMID:20471070 20110829 RGD mRNA:increased expression:dermal dendritic cell 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736451 D RGD:11040883|PMID:20699442 20160316 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8924 autoimmune thrombocytopenic purpura no_association ISO RGD:1316933 D RGD:11040990|PMID:23249566 20160318 RGD DNA:SNP:cds:p.R131H (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1316933 D RGD:11040989|PMID:22123287 20160318 RGD DNA:SNP:cds:p.R131H (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1316933 D RGD:11040933|PMID:21131591 20160317 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9002457 Experimental Arthritis ISO RGD:736451 D RGD:5508457|PMID:16623928 20111018 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9002457 Experimental Arthritis onset ISO RGD:736451 D RGD:5508446|PMID:18354234 20111018 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9002498 Wallerian Degeneration IEP D RGD:2316290|PMID:1533683 20100203 RGD mRNA:increased expression:sciatic nerve, macrophage 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736451 D RGD:5508383|PMID:12576552 20111013 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9004283 Transplant Rejection treatment ISO RGD:1316933 D RGD:9588604|PMID:10762218 20141103 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9004610 Acute Lung Injury IMP D RGD:5147925|PMID:19106808 20110829 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9005036 Bacteremia ISO RGD:1316933 D RGD:5147986|PMID:21317643 20110830 RGD associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9007096 Stroke susceptibility ISO RGD:1316933 D RGD:5147920|PMID:20034444 20110829 RGD DNA:SNPs:enhancers: (rs7512140, rs7535475) (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9007096 Stroke susceptibility ISO RGD:1316933 D RGD:5147924|PMID:19357503 20110829 RGD DNA:SNPs:enhancers:multiple 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9007278 Anaphylaxis ISO RGD:1316933 D RGD:11040995|PMID:26396093 20160318 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9007278 Anaphylaxis susceptibility ISO RGD:1316933 D RGD:11040993|PMID:23545275 20160318 RGD associated with Agammaglobulinemia;DNA:mutation:splice junction: 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9007417 Pseudomonas Infections ISO RGD:1316933 D RGD:4144121|PMID:15367919 20110830 RGD associated with Cystic Fibrosis; DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:1316933 D RGD:11040889|PMID:8772238 20160316 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9008366 Meningococcal Infections ISO RGD:1316933 D RGD:5147980|PMID:10792385 20110830 RGD associated with complement deficiency;DNA:missense mutation:cds:p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9008366 Meningococcal Infections severity ISO RGD:1316933 D RGD:11040998|PMID:11812402 20160318 RGD DNA:polymorphism:cds:p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:5147916|PMID:21719445 20110829 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:5147926|PMID:18204446 20110829 RGD DNA:SNP (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:5147972|PMID:17557887 20110830 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:5147973|PMID:17092257 20110830 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:5147976|PMID:14747618 20110830 RGD protein:decreased expression:blood, monocyte 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316933 D RGD:5147984|PMID:8254199 20110830 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1316933 D RGD:5147979|PMID:11561111 20110830 RGD DNA:polymorphism: :p.H131R (human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1316933 D RGD:7240710 20230505 OMIM 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316933 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9538 multiple myeloma disease_progression ISO RGD:1316933 D RGD:11040778|PMID:25850245 20160315 RGD 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9538 multiple myeloma susceptibility ISO RGD:1316933 D RGD:11040938|PMID:17315188 20160317 RGD DNA:polymorphism: :rs1801274(human) 71069 Fcgr2a Fc gamma receptor 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:736451 D RGD:5508453|PMID:17617565 20111018 RGD 71070 Kcnh3 potassium voltage-gated channel subfamily H member 3 gene DOID:630 genetic disease ISO RGD:733984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:12858 Huntington's disease IDA D RGD:13524507|PMID:2527078 20180411 RGD 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:1936 atherosclerosis treatment ISO RGD:731776 D RGD:243065123|PMID:31589306 20230411 RGD Ldlr knockout mouse 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:3883 Lynch syndrome ISO RGD:731775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:5419 schizophrenia ISO RGD:731775 D RGD:13513905|PMID:21036897 20180308 RGD protein:decreased activity:brain: 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:630 genetic disease ISO RGD:731775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:731776 D RGD:243065123|PMID:31589306 20230411 RGD Ldlr knockout mouse 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:7240710 20190315 OMIM 71071 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:25741868|PMID:28792876|PMID:33942433 71072 Dync1li1 dynein cytoplasmic 1 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1606006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0050777 Joubert syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:1826 epilepsy ISO RGD:733882 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:3652 Leigh disease ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:630 genetic disease ISO RGD:733882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:9005749 Necrosis ISO RGD:733882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16725115 71073 Dpp7 dipeptidylpeptidase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 71074 Lhx1 LIM homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732963 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 71074 Lhx1 LIM homeobox 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:732963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 71074 Lhx1 LIM homeobox 1 gene DOID:12849 autistic disorder ISO RGD:732963 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 71074 Lhx1 LIM homeobox 1 gene DOID:5419 schizophrenia ISO RGD:732963 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 71074 Lhx1 LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:732963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71074 Lhx1 LIM homeobox 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:732963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 71074 Lhx1 LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732963 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71074 Lhx1 LIM homeobox 1 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:732963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 71075 Itgad integrin subunit alpha D gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731798 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 71075 Itgad integrin subunit alpha D gene DOID:10283 prostate cancer ISO RGD:731798 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 71075 Itgad integrin subunit alpha D gene DOID:630 genetic disease ISO RGD:731798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71076 Lhx2 LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:733849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71076 Lhx2 LIM homeobox 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733849 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:731735 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:1148 polydactyly ISO RGD:731735 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:731735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:12270 coloboma ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ocular coloboma PMID:15142123|PMID:23180570|PMID:25741868|PMID:28492532|PMID:2998465 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:13269 hereditary coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria PMID:22958180|PMID:25741868|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:13270 erythropoietic protoporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ferrochelatase deficiency PMID:22958180|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:3133 acute porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:22958180|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:3890 acute intermittent porphyria ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:4346 variegate porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:630 genetic disease ISO RGD:731735 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9002801 Recurrence ISO RGD:731735 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:7240710 20140911 OMIM 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 PMID:15142123|PMID:19504436|PMID:22226084|PMID:23180570|PMID:24281366|PMID:25741868|PMID:28492532|PMID:2998465 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731735 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731735 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9005794 Coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Porphyria hepatica II PMID:22958180|PMID:28492532 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:7240710 20140911 OMIM 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 PMID:15142123|PMID:23180570|PMID:23519333|PMID:24224009|PMID:25741868|PMID:28492532|PMID:2998465 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731735 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:7240710 20151216 OMIM 71077 Abcb6 ATP binding cassette subfamily B member 6 gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak PMID:11918557|PMID:15142123|PMID:23180570|PMID:24947683|PMID:25741868|PMID:27151991|PMID:2766660|PMID:28492532|PMID:2998465|PMID:6123793 71078 Lhx3 LIM homeobox 3 gene DOID:0050777 Joubert syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1352685 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 71078 Lhx3 LIM homeobox 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 71078 Lhx3 LIM homeobox 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 71078 Lhx3 LIM homeobox 3 gene DOID:13938 amenorrhea ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 71078 Lhx3 LIM homeobox 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 71078 Lhx3 LIM homeobox 3 gene DOID:3652 Leigh disease ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:630 genetic disease ISO RGD:1352685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29261175|PMID:30262920 71078 Lhx3 LIM homeobox 3 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1352685 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:7240710 20130221 OMIM 71078 Lhx3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:10835633|PMID:12780757|PMID:16199547|PMID:16394081|PMID:16940453|PMID:17327381|PMID:17438671|PMID:18407919|PMID:19837867|PMID:21249393|PMID:22286346|PMID:25741868|PMID:28492532|PMID:29261175|PMID:30262920 71078 Lhx3 LIM homeobox 3 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1352685 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:28492532 71078 Lhx3 LIM homeobox 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 71078 Lhx3 LIM homeobox 3 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1352685 D RGD:8554872 20170124 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive 71078 Lhx3 LIM homeobox 3 gene DOID:9406 hypopituitarism ISS RGD:736998 D RGD:13592920 20180518 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 71078 Lhx3 LIM homeobox 3 gene DOID:9410 panhypopituitarism ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 71079 Lhx5 LIM homeobox 5 gene DOID:630 genetic disease ISO RGD:732692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71081 Cldn11 claudin 11 gene DOID:1062 Fanconi syndrome ISO RGD:732844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 71081 Cldn11 claudin 11 gene DOID:2377 multiple sclerosis ISO RGD:732844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 71081 Cldn11 claudin 11 gene DOID:630 genetic disease ISO RGD:732844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71081 Cldn11 claudin 11 gene DOID:9000735 Hypomyelinating Leukodystrophy 22 ISO RGD:732844 D RGD:7240710 20210526 OMIM 71081 Cldn11 claudin 11 gene DOID:9000735 Hypomyelinating Leukodystrophy 22 ISO RGD:732844 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 PMID:33313762 71081 Cldn11 claudin 11 gene DOID:9006205 Animal Disease Models ISO RGD:732844 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 71081 Cldn11 claudin 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732844 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:7240710 20180718 OMIM 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:11115378|PMID:12446270|PMID:15591269|PMID:16429395|PMID:16429403|PMID:18626305|PMID:19555857|PMID:20534176|PMID:21801371|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28507310|PMID:32581362 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:11613 hyperandrogenism ISO RGD:735373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:735373 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:735373 D RGD:11554173 20170110 CTD CTD Direct Evidence: marker/mechanism PMID:25460361 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:21920918|PMID:22632830|PMID:22995991|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:26820968|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33066286|PMID:9536098 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1681 heart septal defect ISO RGD:735373 D RGD:5129230|PMID:21070126 20110330 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1826 epilepsy ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:12358323|PMID:25741868|PMID:28492532 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:2841 asthma ISO RGD:735373 D RGD:5129470|PMID:18292470 20110330 RGD protein:decreased expression:bronchus 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:341 peripheral vascular disease ISO RGD:735374 D RGD:5129473|PMID:18723761 20110330 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:735373 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:630 genetic disease ISO RGD:735373 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension IEP D RGD:38500244|PMID:25593290 20200924 RGD protein:decreased expression:lung 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension IMP D RGD:14975304|PMID:31462075 20201210 RGD induced by human ad-ALOX5 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11590841|PMID:11893684|PMID:12358323|PMID:16297860|PMID:20496075|PMID:20522807|PMID:23383100|PMID:23502781|PMID:24224048 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:1580076|PMID:15775752 19990101 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:5129237|PMID:20534176 20110329 RGD DNA:mutations: :multiple (human) 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:5129238|PMID:20002458 20110329 RGD DNA:mutations: :multiple (human) 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:5129472|PMID:19324947 20110330 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735374 D RGD:5129474|PMID:18663089 20110330 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735373 D RGD:5129239|PMID:19785764 20110329 RGD DNA:missense mutations (human) 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:735373 D RGD:38500243|PMID:21737550 20200929 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9000998 Brain Injuries IEP D RGD:5129488|PMID:9080432 20110330 RGD mRNA:increased expression:dentate gyrus, neuron 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735373 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism PMID:28415675 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16717148|PMID:17515463|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24591673|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29843651|PMID:30029678|PMID:30578397|PMID:31727138|PMID:32581362|PMID:3291115 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:5129486|PMID:10996456 20110330 RGD mRNA:increased expression:dentate gyrus, granule cell 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735373 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004771 Vascular Remodeling IMP D RGD:38500244|PMID:25593290 20201210 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:19555857|PMID:20002458|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:5135278|PMID:21521772 20120322 RGD protein:increased expression:lung 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008582 Developmental Disease ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008763 Femoral Fractures IEP D RGD:2289041|PMID:9626398 20110330 RGD 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735373 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:7240710 20180905 OMIM 71082 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12446270|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:18792970|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:22632830|PMID:22995991|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:27002414|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33380512|PMID:9536098 71083 Htr1f 5-hydroxytryptamine receptor 1F gene DOID:630 genetic disease ISO RGD:734005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71083 Htr1f 5-hydroxytryptamine receptor 1F gene DOID:6364 migraine ISO RGD:734005 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 71084 Hs3st1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:731446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arteriosclerosis PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 71084 Hs3st1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:3393 coronary artery disease ISO RGD:731446 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 71084 Hs3st1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:731446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:21897443|PMID:24130771|PMID:28492532|PMID:30311386 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:12028435|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736518 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:7240710 20130425 OMIM 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15086897|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18436078|PMID:19525337|PMID:20301386|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26633401|PMID:26795916|PMID:26809805|PMID:26920127|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27904025|PMID:27932480|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28600779|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28780565|PMID:28844315|PMID:29089023|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30828794|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31387071|PMID:31477057|PMID:31625567|PMID:31807928|PMID:31865346|PMID:32723786|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33774048|PMID:33838161|PMID:33854215|PMID:34013111|PMID:34113375|PMID:34120753|PMID:34426522|PMID:34906502|PMID:35177655|PMID:6138234|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:7240710 20130425 OMIM 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17396119|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23297803|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26594346|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29100090|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31387071|PMID:31477057|PMID:31807928|PMID:31865346|PMID:31925849|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33772369|PMID:33774048|PMID:33838161|PMID:33851121|PMID:33854215|PMID:34013111|PMID:34120753|PMID:34400539|PMID:34426522|PMID:35177655|PMID:6138234|PMID:7633417|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098|PMID:9647515 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0111365 benign familial hematuria ISO RGD:736518 D RGD:7242047|PMID:19357112 20130322 RGD 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:0111365 benign familial hematuria ISO RGD:736518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25307543|PMID:25575550|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074|PMID:33532864 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12631109 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29854973|PMID:29924831|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32860008|PMID:33369211|PMID:33532864|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32723786|PMID:32860008|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33532864|PMID:33774048|PMID:34013111|PMID:34426522|PMID:35177655|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome susceptibility ISO RGD:736518 D RGD:1600924|PMID:7987301 20070330 RGD DNA:deletion, nonsense mutations 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:1184 nephrotic syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:28844315|PMID:30828794|PMID:34113375 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:14871398|PMID:17216251|PMID:18385178|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:28492532|PMID:29924831|PMID:30245029 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:2921 glomerulonephritis IDA D RGD:1600928|PMID:11158397 20070330 RGD 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:557 kidney disease ISO RGD:736518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:21862460|PMID:22887978|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26934356|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:576 proteinuria ISO RGD:736518 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:630 genetic disease ISO RGD:736518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:33040356|PMID:8956999 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:783 end stage renal disease ISO RGD:736518 D RGD:7242047|PMID:19357112 20130322 RGD 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:784 chronic kidney disease ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:14871398|PMID:17216251|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:27391953|PMID:28492532|PMID:29924831|PMID:30245029|PMID:32723786 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9000363 Hematuria ISO RGD:736518 D RGD:7242047|PMID:19357112 20130322 RGD 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9000363 Hematuria ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria PMID:16199547|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:8956999 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9003097 Benign Familial Hematuria 2 ISO RGD:736518 D RGD:7240710 20230505 OMIM 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:736518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:11134255|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:23325022|PMID:24033266|PMID:24052634|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074 71085 Col4a3 collagen type IV alpha 3 chain gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:736518 D RGD:151660336|PMID:25105010 20220303 RGD mRNA:decreased expression:lung (human) 71086 Krtdap keratinocyte differentiation associated protein gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603836 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 71086 Krtdap keratinocyte differentiation associated protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 71086 Krtdap keratinocyte differentiation associated protein gene DOID:543 dystonia ISO RGD:1603836 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 71086 Krtdap keratinocyte differentiation associated protein gene DOID:630 genetic disease ISO RGD:1603836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71087 Epb41l1 erythrocyte membrane protein band 4.1-like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:7240710 20140911 OMIM 71087 Epb41l1 erythrocyte membrane protein band 4.1-like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11 PMID:11050113|PMID:19503082|PMID:21376300|PMID:25326635|PMID:25741868 71087 Epb41l1 erythrocyte membrane protein band 4.1-like 1 gene DOID:1059 intellectual disability ISO RGD:733700 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 71087 Epb41l1 erythrocyte membrane protein band 4.1-like 1 gene DOID:630 genetic disease ISO RGD:733700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 71088 Niban1 niban apoptosis regulator 1 gene DOID:13580 cholestasis ISO RGD:736616 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 71088 Niban1 niban apoptosis regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736616 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 71088 Niban1 niban apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:736616 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71088 Niban1 niban apoptosis regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736616 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732325 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:1059 intellectual disability ISO RGD:732325 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:1324 lung cancer ISO RGD:732325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:3565 meningioma ISO RGD:732325 D RGD:1300356|PMID:10888600 19990101 RGD 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732325 D RGD:151665741|PMID:25050929 20220330 RGD DNA:hypermethylation 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:630 genetic disease ISO RGD:732325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71089 Epb41l3 erythrocyte membrane protein band 4.1-like 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732325 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 71090 Gatm glycine amidinotransferase gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:731936 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome 71090 Gatm glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:7240710 20130221 OMIM 71090 Gatm glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:10762163|PMID:11555793|PMID:12468279|PMID:17576681|PMID:20301745|PMID:20625172|PMID:20682460|PMID:22386973|PMID:23660394|PMID:23770102|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:26490222|PMID:27233232|PMID:27577545|PMID:28492532|PMID:29654216|PMID:9536098 71090 Gatm glycine amidinotransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731936 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:25741868|PMID:29654216 71090 Gatm glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:7240710 20200701 OMIM 71090 Gatm glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29654216|PMID:35738466 71090 Gatm glycine amidinotransferase gene DOID:1059 intellectual disability ISO RGD:731936 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:28492532 71090 Gatm glycine amidinotransferase gene DOID:1062 Fanconi syndrome ISO RGD:731936 D RGD:11554173 20200702 CTD CTD Direct Evidence: marker/mechanism 71090 Gatm glycine amidinotransferase gene DOID:1826 epilepsy ISO RGD:731936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 71090 Gatm glycine amidinotransferase gene DOID:2717 Bloom syndrome ISO RGD:731936 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 71090 Gatm glycine amidinotransferase gene DOID:3021 acute kidney failure IEP D RGD:1599823|PMID:2752493 20070216 RGD protein:decreased activity:kidney (rat) 71090 Gatm glycine amidinotransferase gene DOID:305 carcinoma ISO RGD:731936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 71090 Gatm glycine amidinotransferase gene DOID:557 kidney disease ISO RGD:731936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 71090 Gatm glycine amidinotransferase gene DOID:6000 congestive heart failure ISO RGD:731936 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16820567|PMID:36071497 71090 Gatm glycine amidinotransferase gene DOID:630 genetic disease ISO RGD:731936 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:27577545|PMID:28492532|PMID:9536098 71090 Gatm glycine amidinotransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 71090 Gatm glycine amidinotransferase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 71090 Gatm glycine amidinotransferase gene DOID:9005749 Necrosis ISO RGD:731936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 71090 Gatm glycine amidinotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:731936 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 71090 Gatm glycine amidinotransferase gene DOID:9256 colorectal cancer ISO RGD:731936 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12524598|PMID:22025579|PMID:24349080|PMID:24793135|PMID:25741868|PMID:26467025|PMID:28492532 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:7240710 20171011 OMIM 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:11285252|PMID:11567139|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16582908|PMID:16823392|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31960602|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33921607|PMID:34008892|PMID:8298649|PMID:9536098 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:7240710 20160615 OMIM 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 74 PMID:11285252|PMID:11567139|PMID:12837689|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26467025|PMID:26518167|PMID:27659767|PMID:28143435|PMID:28492532|PMID:28559085|PMID:31054281|PMID:31530639|PMID:34008892 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:10584 retinitis pigmentosa ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26355662|PMID:26518167|PMID:27659767|PMID:27894351|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31530639|PMID:32037395|PMID:33777945|PMID:33921607|PMID:34008892|PMID:9536098 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732435 D RGD:70665|PMID:11285252 20150129 RGD DNA:missense, deletion, nonsense mutations:cds: 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:11567139|PMID:11886943|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:24849935|PMID:25133751|PMID:25170860|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28747448|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30614526|PMID:30718709|PMID:30866059|PMID:30902645|PMID:31054281|PMID:31196119|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31630094|PMID:31960602|PMID:32037395|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33781268|PMID:33921607|PMID:34008892|PMID:8298649|PMID:9536098 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:630 genetic disease ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26518167|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31530639|PMID:9536098 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:8501 fundus dystrophy ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11285252|PMID:11567139|PMID:12837689|PMID:15666242|PMID:16199547|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24280758|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26518167|PMID:27353947|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30029678|PMID:30718709|PMID:31530639|PMID:33520300|PMID:33777945 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:732435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:11285252|PMID:11567139|PMID:15666242|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21344540|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:30718709 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9001876 Bardet-Biedl Syndrome 2/4, Digenic ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic PMID:11567139|PMID:20498079|PMID:26355662|PMID:27894351|PMID:28492532|PMID:33777945|PMID:33921607 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9003383 Bardet-Biedl Syndrome 1/2, Digenic ISO RGD:732435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic PMID:11285252|PMID:11567139|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21344540|PMID:21642631|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25541840|PMID:25741868|PMID:26518167|PMID:28492532 71091 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9970 obesity susceptibility ISO RGD:732435 D RGD:1601311|PMID:17003356 20070416 RGD DNA:SNPs 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0050700 cardiomyopathy ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30847666|PMID:31737537|PMID:31919335|PMID:32697969|PMID:33012304|PMID:33035702|PMID:33495597|PMID:34426522|PMID:9039266 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:16352453|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31737537 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:16352453|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153|PMID:30012424|PMID:31737537|PMID:34426522 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:7240710 20130425 OMIM 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:17576681|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20087448|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29247119|PMID:29544605|PMID:30012424|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31919335|PMID:31983221|PMID:32697969|PMID:32746448|PMID:32789579|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495597|PMID:34426522|PMID:34526680|PMID:8994428|PMID:9039266|PMID:9536098 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:7240710 20130425 OMIM 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20474083|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29544605|PMID:30012424|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32697969|PMID:32746448|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495597|PMID:34426522|PMID:34526680|PMID:8994428|PMID:9039266 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:733068 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:1059 intellectual disability ISO RGD:733068 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733068 D RGD:1598499|PMID:12642359 20061201 RGD 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30048712|PMID:31513939|PMID:8994428|PMID:9039266 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:733068 D RGD:734841|PMID:12507422 20061201 RGD DNA:missense mutation:cds:p.W4R (human) 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:733068 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:733069 D RGD:734837|PMID:9637704 20150113 RGD 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:2843 long QT syndrome ISO RGD:733068 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:303 substance-related disorder ISO RGD:733068 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733068 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:6000 congestive heart failure ISS RGD:733069 D RGD:13592920 20180518 MouseDO 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:630 genetic disease ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:1598503|PMID:11113014 20061201 RGD 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:9006205 Animal Disease Models ISO RGD:733068 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 71092 Csrp3 cysteine and glycine rich protein 3 gene DOID:9007820 Sudden Death ISO RGD:733068 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 71093 Gosr1 golgi SNAP receptor complex member 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 71093 Gosr1 golgi SNAP receptor complex member 1 gene DOID:630 genetic disease ISO RGD:737606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:11240 appendiceal neoplasm severity ISO RGD:737279 D RGD:9590083|PMID:16794389 20141112 RGD mRNA:increased expression:appendix, mucosa (human) 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:1793 pancreatic cancer ISO RGD:737279 D RGD:9590074|PMID:25071868 20141112 RGD human gene in a mouse model 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:630 genetic disease ISO RGD:737279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:687 hepatoblastoma ISO RGD:737279 D RGD:9590075|PMID:12935928 20141112 RGD mRNA:increased expression:liver (human) 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:9002669 Hypoxia IEP D RGD:9590077|PMID:24893663 20141112 RGD protein:decreased dimerization:hippocampus (rat) 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:737279 D RGD:9590082|PMID:16424981 20141112 RGD mRNA:increased expression:intestinal mucosa (human) 71094 Nap1l1 nucleosome assembly protein 1-like 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737279 D RGD:9590076|PMID:12384809 20141112 RGD mRNA:increased expression:colon (human) 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:7240710 20140911 OMIM 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10 PMID:21376300|PMID:25741868 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1825 childhood absence epilepsy IEP D RGD:13524553|PMID:18556211 20180419 RGD mRNA,protein:increased expression:somatosensory cortex, primary motor cortex 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1826 epilepsy ISO RGD:731676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:3070 high grade glioma ISO RGD:731676 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:630 genetic disease ISO RGD:731676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 71095 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71096 Dnm1 dynamin 1 gene DOID:0050562 West syndrome ISO RGD:733748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: West syndrome PMID:25741868 71096 Dnm1 dynamin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 71096 Dnm1 dynamin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 71096 Dnm1 dynamin 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1552716 D RGD:11557016|PMID:27363778 20171113 RGD 71096 Dnm1 dynamin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 71096 Dnm1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733748 D RGD:7240710 20160413 OMIM 71096 Dnm1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31 ISO RGD:733748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B, autosomal recessive | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:18469812|PMID:19084268|PMID:20428113|PMID:20887364|PMID:22722545|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:27066543|PMID:27806796|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29314763|PMID:29397573|PMID:29427836|PMID:29668686|PMID:30097719|PMID:30455886|PMID:31920647|PMID:32909139|PMID:33004838|PMID:34172529|PMID:34386584|PMID:36413998|PMID:36553519|PMID:8335685|PMID:9536098 71096 Dnm1 dynamin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:30097719|PMID:32909139|PMID:36413998 71096 Dnm1 dynamin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 71096 Dnm1 dynamin 1 gene DOID:10652 Alzheimer's disease IEP D RGD:13506238|PMID:20847448 20180205 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex 71096 Dnm1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1552716 D RGD:13506238|PMID:20847448 20180205 RGD denntate gyrus, hippocampus, entorhinal cortex 71096 Dnm1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733748 D RGD:13506238|PMID:20847448 20180205 RGD protein:decreased expression:hippocampus,entorhinal cortex: 71096 Dnm1 dynamin 1 gene DOID:1826 epilepsy ISO RGD:733748 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 71096 Dnm1 dynamin 1 gene DOID:1827 idiopathic generalized epilepsy ISS RGD:1552716 D RGD:13592920 20180518 MouseDO OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 71096 Dnm1 dynamin 1 gene DOID:630 genetic disease ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:17636067|PMID:19084268|PMID:20428113|PMID:21927000|PMID:21962493|PMID:23584531|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25312384|PMID:25533962|PMID:25741868|PMID:26302298|PMID:26467025|PMID:26611353|PMID:28135719|PMID:28492532|PMID:28667181|PMID:29314763|PMID:29427836|PMID:29668686|PMID:30455886|PMID:8335685|PMID:9536098 71096 Dnm1 dynamin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733748 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 71096 Dnm1 dynamin 1 gene DOID:9006855 Dog Diseases ISO RGD:733748 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18806795 71096 Dnm1 dynamin 1 gene DOID:9006878 Exercise Intolerance ISO RGD:12058818 D RGD:9068941 20220121 OMIA Exercise-induced collapse PMID:18806795|PMID:18981194|PMID:19122058|PMID:21782486|PMID:21866517|PMID:22104507|PMID:23387942|PMID:23445289|PMID:24069350|PMID:27487345|PMID:27685362|PMID:30650096|PMID:34946876|PMID:9918153 71096 Dnm1 dynamin 1 gene DOID:9008582 Developmental Disease ISO RGD:733748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 71097 Timm10b translocase of inner mitochondrial membrane 10B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736128 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 71097 Timm10b translocase of inner mitochondrial membrane 10B gene DOID:630 genetic disease ISO RGD:736128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:10652 Alzheimer's disease ISO RGD:736167 D RGD:10395229|PMID:10514399 20150826 RGD protein:increased expression:CA1 field of hippocampus: 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:3429 inclusion body myositis ISO RGD:736167 D RGD:10395231|PMID:18191026 20150826 RGD protein:increased expression:muscle: 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736167 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 71098 Csnk1a1 casein kinase 1, alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736167 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 71099 Adar adenosine deaminase, RNA-specific gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 71099 Adar adenosine deaminase, RNA-specific gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:736989 D RGD:11069491|PMID:23001123 20170919 RGD DNA:mutations:exons: 71099 Adar adenosine deaminase, RNA-specific gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:736989 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23001123 71099 Adar adenosine deaminase, RNA-specific gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:19060901|PMID:20301648|PMID:22129056|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25456137|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29221912|PMID:29603717|PMID:31772029|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9889202 71099 Adar adenosine deaminase, RNA-specific gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:736989 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:25741868|PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:13432090|PMID:15955093 20170919 RGD DNA:mutations:multiple: 71099 Adar adenosine deaminase, RNA-specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:1559268|PMID:12916015 19990101 RGD 71099 Adar adenosine deaminase, RNA-specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:7240710 20130221 OMIM 71099 Adar adenosine deaminase, RNA-specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:12916015|PMID:15102079|PMID:15146470|PMID:15347341|PMID:15489923|PMID:15659327|PMID:15955093|PMID:16199547|PMID:16536805|PMID:16817193|PMID:16917490|PMID:16935814|PMID:17225010|PMID:17569068|PMID:17576681|PMID:18705826|PMID:19017046|PMID:19060901|PMID:20069304|PMID:20186421|PMID:20301648|PMID:20439151|PMID:21182352|PMID:21211811|PMID:21924887|PMID:21933234|PMID:22129056|PMID:22336994|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:26892242|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28502085|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29896739|PMID:29915444|PMID:30564185|PMID:30692772|PMID:30755392|PMID:31423758|PMID:31772029|PMID:32593192|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:8627722|PMID:9536098|PMID:9889202 71099 Adar adenosine deaminase, RNA-specific gene DOID:0111940 immunodeficiency 42 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:0111962 combined immunodeficiency ISO RGD:736989 D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868 71099 Adar adenosine deaminase, RNA-specific gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:10534 stomach cancer exacerbates ISO RGD:736989 D RGD:14700703|PMID:30563560 20210402 RGD mRNA:increased expression:mucosa of stomach (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:10907 microcephaly ISO RGD:736989 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 71099 Adar adenosine deaminase, RNA-specific gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:736989 D RGD:125097510|PMID:31882741 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:1540 parathyroid carcinoma ISO RGD:736989 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:2030 anxiety disorder ISO RGD:736989 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 71099 Adar adenosine deaminase, RNA-specific gene DOID:2121 ectodermal dysplasia ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:25741868|PMID:28492532|PMID:30755392 71099 Adar adenosine deaminase, RNA-specific gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736989 D RGD:125097518|PMID:28109322 20210402 RGD protein:increased expression:cervix squamous epithelium (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:5082 liver cirrhosis ameliorates ISO RGD:736989 D RGD:125097516|PMID:29018269 20210402 RGD associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNPs:exon 2, 3' utr:multiple (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:5812 MHC class II deficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736989 D RGD:8554872 20190226 ClinVar ClinVar Annotator: match by term: Congenital combined immunodeficiency PMID:25741868 71099 Adar adenosine deaminase, RNA-specific gene DOID:630 genetic disease ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146470|PMID:15659327|PMID:19060901|PMID:20186421|PMID:20300939|PMID:20301648|PMID:22129056|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29603717|PMID:29896739|PMID:29915444|PMID:31772029|PMID:32593192|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9889202 71099 Adar adenosine deaminase, RNA-specific gene DOID:8927 learning disability ISO RGD:736989 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 71099 Adar adenosine deaminase, RNA-specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:125097512|PMID:30669342 20210402 RGD protein:alternative form:heart (mouse) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:125097517|PMID:27584568 20210402 RGD associated with Coxsackievirus Infections 71099 Adar adenosine deaminase, RNA-specific gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736989 D RGD:125097514|PMID:29906476 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:736989 D RGD:11554370|PMID:26911666 20210402 RGD DNA:SNP:exon: (rs1127309) (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:125097513|PMID:19434718 20210402 RGD DNA:silent mutation:CDS:p.V849V (rs1127309) (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:38599150|PMID:17979507 20210402 RGD DNA:snps, haplotype: (rs7515339, rs903323) (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9004610 Acute Lung Injury treatment IMP D RGD:10755331|PMID:18520702 20160125 RGD 71099 Adar adenosine deaminase, RNA-specific gene DOID:9005099 Salmonella Infections, Animal ISO RGD:732453 D RGD:125097511|PMID:12228285 20210402 RGD mRNA:splice variant:liver (mouse) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:7240710 20140903 OMIM 71099 Adar adenosine deaminase, RNA-specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:15146470|PMID:15955093|PMID:16817193|PMID:17576681|PMID:19017046|PMID:19060901|PMID:20301648|PMID:22129056|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25604658|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29915444|PMID:31772029|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:9536098|PMID:9889202 71099 Adar adenosine deaminase, RNA-specific gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736989 D RGD:125097515|PMID:24351124 20210402 RGD DNA:SNP:enhancer: (rs4845384) (human) 71099 Adar adenosine deaminase, RNA-specific gene DOID:9008939 Breast Neoplasms ISO RGD:736989 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:28188287 71099 Adar adenosine deaminase, RNA-specific gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736989 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 71099 Adar adenosine deaminase, RNA-specific gene DOID:9256 colorectal cancer ISO RGD:736989 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 71100 Aqp6 aquaporin 6 gene DOID:630 genetic disease ISO RGD:737143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736866 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:0080208 non-alcoholic fatty liver disease IEP D RGD:11040992|PMID:22112382 20160921 RGD protein:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:12308 Dubin-Johnson syndrome IEP D RGD:1598620|PMID:14731123 20080924 RGD 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:12700 hyperprolactinemia IEP D RGD:11535162|PMID:23486593 20160921 RGD protein:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis IEP D RGD:11535162|PMID:23486593 20160921 RGD protein:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis IEP D RGD:2301060|PMID:18096675 20080924 RGD protein:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:736866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:1793 pancreatic cancer severity ISO RGD:736866 D RGD:2325200|PMID:15688370 20100525 RGD mRNA:increased expression:pancreas 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:2741 bilirubin metabolic disorder IEP D RGD:2301069|PMID:16543292 20080924 RGD mRNA:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:557 kidney disease severity IEP D RGD:2301062|PMID:17855625 20080924 RGD mRNA:increased expression:kidney 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:630 genetic disease ISO RGD:736866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:684 hepatocellular carcinoma IEP D RGD:11535155|PMID:25842354 20160921 RGD mRNA:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:783 end stage renal disease IEP D RGD:2301067|PMID:17135344 20080924 RGD protein:decreased expression:intestine 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9005369 Hepatomegaly ISO RGD:736866 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:11541075|PMID:20487213 20161006 RGD mRNA:increased expression:liver 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736866 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736866 D RGD:11081145|PMID:26512967 20160526 RGD 71101 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9452 fatty liver disease IEP D RGD:2301064|PMID:17640958 20080924 RGD mRNA, protein:increased expression:liver 71102 Lsamp limbic system-associated membrane protein gene DOID:630 genetic disease ISO RGD:1347242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71103 Slc27a2 solute carrier family 27 member 2 gene DOID:2717 Bloom syndrome ISO RGD:1346073 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 71103 Slc27a2 solute carrier family 27 member 2 gene DOID:630 genetic disease ISO RGD:1346073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 71103 Slc27a2 solute carrier family 27 member 2 gene DOID:9000784 Fibrosis ISO RGD:1346073 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28871336 71103 Slc27a2 solute carrier family 27 member 2 gene DOID:9256 colorectal cancer ISO RGD:1346073 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 71111 Iddm8 Insulin dependent diabetes mellitus QTL 8 qtl DOID:9005643 Experimental Diabetes Mellitus IDA D RGD:61480|PMID:9892222 19990101 RGD 71112 Bw115 Body weight QTL 115 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61072|PMID:9585427 19990101 RGD 71113 Cari2 Carrageenan-induced inflammation QTL 2 qtl DOID:4195 hyperglycemia QTM D RGD:61072|PMID:9585427 19990101 RGD 71113 Cari2 Carrageenan-induced inflammation QTL 2 qtl DOID:9005372 Inflammation IDA D RGD:69693|PMID:10087293 20130430 RGD 71114 Niddm14 Non-insulin dependent diabetes mellitus QTL 14 qtl DOID:4195 hyperglycemia QTM D RGD:61072|PMID:9585427 19990101 RGD 71114 Niddm14 Non-insulin dependent diabetes mellitus QTL 14 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61072|PMID:9585427 19990101 RGD 71115 Niddm15 Non-insulin dependent diabetes mellitus QTL 15 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61072|PMID:9585427 19990101 RGD 71116 Niddm16 Non-insulin dependent diabetes mellitus QTL 16 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:70858|PMID:7607056 19990101 RGD 71118 Thym1 Thymus enlargement QTL 1 qtl DOID:9004911 Thymus Hyperplasia IDA D RGD:70859|PMID:10792781 19990101 RGD 71119 Thym2 Thymus enlargement QTL 2 qtl DOID:9004911 Thymus Hyperplasia IDA D RGD:70859|PMID:10792781 19990101 RGD 71120 Niddm21 Non-insulin dependent diabetes mellitus QTL 21 qtl DOID:4195 hyperglycemia contributes_to IAGP D RGD:2300331|PMID:18421176 20080912 RGD heterozygous genotype at the Niddm21 locus 71120 Niddm21 Non-insulin dependent diabetes mellitus QTL 21 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61021|PMID:10051320 19990101 RGD 7204132 Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover gene DOID:627 severe combined immunodeficiency IMP D RGD:7204131|PMID:23136839 20121217 RGD 7204133 LEW-Rag1em1Ztm strain DOID:627 severe combined immunodeficiency MODEL IMP D RGD:7204131|PMID:23136839 20121217 RGD 7204135 Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon gene DOID:627 severe combined immunodeficiency IMP D RGD:7204134|PMID:23150522 20121217 RGD 7204135 Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon gene DOID:9004654 Immune Deficiency Disease IMP D RGD:13628403|PMID:29688994 20180620 RGD 7204136 SD-Rag1em1Ang strain DOID:627 severe combined immunodeficiency MODEL IMP D RGD:7204134|PMID:23150522 20121217 RGD 7204136 SD-Rag1em1Ang strain DOID:9004654 Immune Deficiency Disease IMP D RGD:13628403|PMID:29688994 20180620 RGD 7204484 Bp358 Blood pressure QTL 358 qtl DOID:10763 hypertension IAGP D RGD:7204442|PMID:22868394 20121219 RGD 7204484 Bp358 Blood pressure QTL 358 qtl DOID:576 proteinuria IAGP D RGD:7204442|PMID:22868394 20121219 RGD 7204484 Bp358 Blood pressure QTL 358 qtl DOID:9001542 Albuminuria IAGP D RGD:7204442|PMID:22868394 20121219 RGD 7205510 Activ5 Activity QTL 5 qtl DOID:6088 acute stress disorder IAGP D RGD:2306974|PMID:19089625 20160106 RGD 7207885 Glom27 Glomerulus QTL 27 qtl DOID:13139 crescentic glomerulonephritis IAGP D RGD:7207870|PMID:22445570 20130212 RGD 7207885 Glom27 Glomerulus QTL 27 qtl DOID:4780 anti-basement membrane glomerulonephritis IAGP D RGD:7207870|PMID:22445570 20130731 RGD 7240514 DA.PVG.1AV1-(D4Kiru12-D4Kiru55)/Kiru strain DOID:9002457 Experimental Arthritis severity IAGP XCO:0000265 D RGD:1642519|PMID:17665455 20130213 RGD 7240514 DA.PVG.1AV1-(D4Kiru12-D4Kiru55)/Kiru strain DOID:9003870 Herpes Simplex Encephalitis MODEL: induced IAGP XCO:0000451 D RGD:7240516|PMID:22761571 20140429 RGD as compared to control strain PVG.1AV1/Kini; neurovirulent Herpes simplex type 1 virus (HSV-1 strain I-2762) 7240857 Trim34 tripartite motif-containing 34 gene DOID:10283 prostate cancer ISO RGD:1322062 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 7241042 Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14330 Parkinson's disease IMP D RGD:12880446|PMID:24157858 20170508 RGD 7241045 Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0050890 synucleinopathy ameliorates IMP D RGD:13462057|PMID:24927544 20221201 RGD 7241046 Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14330 Parkinson's disease IMP D RGD:11560775|PMID:25421206 20210218 RGD 7241046 Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14330 Parkinson's disease IMP D RGD:12880446|PMID:24157858 20170508 RGD 7241049 LE-Pink1em1Sage-/- strain DOID:14330 Parkinson's disease IMP D RGD:11560775|PMID:25421206 20210212 RGD 7241049 LE-Pink1em1Sage-/- strain DOID:14330 Parkinson's disease IMP D RGD:12880446|PMID:24157858 20170508 RGD 7241055 LE-Park7em1Sage-/- strain DOID:14330 Parkinson's disease IMP D RGD:12880446|PMID:24157858 20170508 RGD 7241056 LE-Lrrk2em1Sage-/- strain DOID:0050890 synucleinopathy ameliorates IMP D RGD:13462057|PMID:24927544 20221130 RGD 7241240 DA.BN-(D9Mit6-D9Rat29)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 7241241 DA.BN-(D9Mit6-D9Got15)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 7241243 DA.BN-(D9Wox24-D9Rat20)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000195|XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 7241244 DA.BN-(D9Wox24-D9Wox18)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 7241245 DA.BN-(D9Wox24-D9Rat139)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 7241246 DA.BN-(D9Wox24-D9Rat44)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000356 D RGD:7241236|PMID:20368159 20200505 RGD 7241247 LEW.BN-(D9Got8-D9Got22)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000688 D RGD:7241236|PMID:20368159 20200505 RGD 7243862 Mcs30 Mammary carcinoma susceptibility QTL 30 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7327193|PMID:24023717 20130918 RGD 7243965 DA.F344-(D4Arb21-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000263 D RGD:7243954|PMID:22076633 20130604 RGD compared to BklArbNsi 7243966 DA.F344-(D4Arb5-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281| XCO:0000263 D RGD:7243954|PMID:22076633 20130604 RGD compared to BklArbNsi 724513 Uae14 Urinary albumin excretion QTL 14 qtl DOID:9001542 Albuminuria IDA D RGD:634633|PMID:12799471 19990101 RGD 724514 Uae15 Urinary albumin excretion QTL 15 qtl DOID:9001542 Albuminuria IDA D RGD:634633|PMID:12799471 19990101 RGD 724515 Uae16 Urinary albumin excretion QTL 16 qtl DOID:9001542 Albuminuria IDA D RGD:634633|PMID:12799471 19990101 RGD 724516 Uae17 Urinary albumin excretion QTL 17 qtl DOID:9001542 Albuminuria IDA D RGD:634633|PMID:12799471 19990101 RGD 724517 Uae18 Urinary albumin excretion QTL 18 qtl DOID:9001542 Albuminuria IDA D RGD:634633|PMID:12799471 19990101 RGD 724518 Uae19 Urinary albumin excretion QTL 19 qtl DOID:9001542 Albuminuria IDA D RGD:634633|PMID:12799471 19990101 RGD 724519 Bp144 Blood pressure QTL 144 qtl DOID:10763 hypertension IDA D RGD:619638|PMID:8938440 19990101 RGD 724520 Bp145 Blood pressure QTL 145 qtl DOID:10763 hypertension IDA D RGD:634618|PMID:12397040 19990101 RGD 724521 Uae1 Urinary albumin excretion QTL 1 qtl DOID:1287 cardiovascular system disease IDA D RGD:634618|PMID:12397040 19990101 RGD 724521 Uae1 Urinary albumin excretion QTL 1 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724522 Bp146 Blood pressure QTL 146 qtl DOID:10763 hypertension IDA D RGD:634618|PMID:12397040 19990101 RGD 724523 Tsu1 Thymus enlargement suppressive QTL 1 qtl DOID:9004911 Thymus Hyperplasia IAGP D RGD:634729|PMID:9234381 19990101 RGD 724524 Uae2 Urinary albumin excretion QTL 2 qtl DOID:1287 cardiovascular system disease IDA D RGD:634618|PMID:12397040 19990101 RGD 724524 Uae2 Urinary albumin excretion QTL 2 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724525 Bp147 Blood pressure QTL 147 qtl DOID:10763 hypertension IDA D RGD:634618|PMID:12397040 19990101 RGD 724526 Uae3 Urinary albumin excretion QTL 3 qtl DOID:1287 cardiovascular system disease IDA D RGD:634618|PMID:12397040 19990101 RGD 724526 Uae3 Urinary albumin excretion QTL 3 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724527 Bp148 Blood pressure QTL 148 qtl DOID:10763 hypertension IAGP D RGD:704345|PMID:12939233 19990101 RGD 724528 Uae4 Urinary albumin excretion QTL 4 qtl DOID:1287 cardiovascular system disease IDA D RGD:634618|PMID:12397040 19990101 RGD 724528 Uae4 Urinary albumin excretion QTL 4 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724529 Cm16 Cardiac mass QTL 16 qtl DOID:10763 hypertension IDA D RGD:634617|PMID:12707388 19990101 RGD 724529 Cm16 Cardiac mass QTL 16 qtl DOID:114 heart disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724530 Bp149 Blood pressure QTL 149 qtl DOID:10763 hypertension IAGP D RGD:704345|PMID:12939233 19990101 RGD 724531 Uae5 Urinary albumin excretion QTL 5 qtl DOID:576 proteinuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724531 Uae5 Urinary albumin excretion QTL 5 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724532 Cm17 Cardiac mass QTL 17 qtl DOID:114 heart disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724533 Rf51 Renal function QTL 51 qtl DOID:557 kidney disease IDA D RGD:619628|PMID:10545438 19990101 RGD 724534 Uae6 Urinary albumin excretion QTL 6 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:634617|PMID:12707388 19990101 RGD 724534 Uae6 Urinary albumin excretion QTL 6 qtl DOID:576 proteinuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724534 Uae6 Urinary albumin excretion QTL 6 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724535 Cm18 Cardiac mass QTL 18 qtl DOID:114 heart disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724536 Uae7 Urinary albumin excretion QTL 7 qtl DOID:576 proteinuria QTM D RGD:634617|PMID:12707388 19990101 RGD 724536 Uae7 Urinary albumin excretion QTL 7 qtl DOID:9001542 Albuminuria QTM D RGD:634617|PMID:12707388 19990101 RGD 724537 Niddm52 Non-insulin dependent diabetes mellitus QTL 52 qtl DOID:10603 glucose intolerance IDA D RGD:619670|PMID:11381614 19990101 RGD 724538 Kidm1 Kidney mass QTL 1 qtl DOID:557 kidney disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724539 Cm19 Cardiac mass QTL 19 qtl DOID:114 heart disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724540 Uae8 Urinary albumin excretion QTL 8 qtl DOID:576 proteinuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724540 Uae8 Urinary albumin excretion QTL 8 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724541 Niddm53 Non-insulin dependent diabetes mellitus QTL 53 qtl DOID:10603 glucose intolerance IDA D RGD:619670|PMID:11381614 19990101 RGD 724542 Kidm2 Kidney mass QTL 2 qtl DOID:557 kidney disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724543 Cm20 Cardiac mass QTL 20 qtl DOID:114 heart disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724544 Uae9 Urinary albumin excretion QTL 9 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724545 Niddm54 Non-insulin dependent diabetes mellitus QTL 54 qtl DOID:10603 glucose intolerance IDA D RGD:619670|PMID:11381614 19990101 RGD 724546 Kidm3 Kidney mass QTL 3 qtl DOID:557 kidney disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724547 Cm21 Cardiac mass QTL 21 qtl DOID:114 heart disease IDA D RGD:634617|PMID:12707388 19990101 RGD 724548 Niddm55 Non-insulin dependent diabetes mellitus QTL 55 qtl DOID:10603 glucose intolerance IDA D RGD:619670|PMID:11381614 19990101 RGD 724549 Niddm56 Non-insulin dependent diabetes mellitus QTL 56 qtl DOID:10603 glucose intolerance IDA D RGD:619670|PMID:11381614 19990101 RGD 7245494 SD-Tg(TRE-TARDBP-M337V) strain DOID:332 amyotrophic lateral sclerosis MODEL:induced IMP D RGD:7245496|PMID:20361056 20130606 RGD 724550 Thym3 Thymus enlargement QTL 3 qtl DOID:9004911 Thymus Hyperplasia IDA D RGD:70859|PMID:10792781 19990101 RGD 724551 Glom1 Glomerulus QTL 1 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724551 Glom1 Glomerulus QTL 1 qtl DOID:9001542 Albuminuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724552 Glom2 Glomerulus QTL 2 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724552 Glom2 Glomerulus QTL 2 qtl DOID:9001542 Albuminuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724553 Glom3 Glomerulus QTL 3 qtl DOID:576 proteinuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724553 Glom3 Glomerulus QTL 3 qtl DOID:9001542 Albuminuria IDA D RGD:634618|PMID:12397040 19990101 RGD 724554 Iddm17 Insulin dependent diabetes mellitus QTL 17 qtl DOID:9006190 Chronic Pancreatitis IDA D RGD:634732|PMID:9329965 20120921 RGD 724554 Iddm17 Insulin dependent diabetes mellitus QTL 17 qtl DOID:9744 type 1 diabetes mellitus IDA D RGD:634732|PMID:9329965 19990101 RGD 724555 Bp150 Blood pressure QTL 150 qtl DOID:10763 hypertension IAGP D RGD:704345|PMID:12939233 19990101 RGD 724556 Pur2 Proteinuria QTL 2 qtl DOID:576 proteinuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724557 Plsm1 Polydactyly-luxate syndrome (PLS) morphotypes QTL 1 qtl DOID:1148 polydactyly QTM D RGD:632346|PMID:8997636 19990101 RGD 724558 Plsm2 Polydactyly-luxate syndrome (PLS) morphotypes QTL 2 qtl DOID:1148 polydactyly QTM D RGD:632346|PMID:8997636 19990101 RGD 724559 Pancm1 Pancreatic morphology QTL 1 qtl DOID:9352 type 2 diabetes mellitus IDA D RGD:61083|PMID:9169130 19990101 RGD 724560 Plsm3 Polydactyly-luxate syndrome (PLS) morphotypes QTL 3 qtl DOID:9006294 Congenital Limb Deformities IAGP D RGD:632346|PMID:8997636 19990101 RGD 724561 Plsm4 Polydactyly-luxate syndrome (PLS) morphotypes QTL 4 qtl DOID:1148 polydactyly QTM D RGD:632346|PMID:8997636 19990101 RGD 724562 Rends1 Renal damage susceptibility QTL 1 qtl DOID:576 proteinuria IAGP D RGD:632218|PMID:10454439 19990101 RGD 724562 Rends1 Renal damage susceptibility QTL 1 qtl DOID:783 end stage renal disease IAGP D RGD:632218|PMID:10454439 19990101 RGD 724563 Uae10 Urinary albumin excretion QTL 10 qtl DOID:576 proteinuria QTM D RGD:634617|PMID:12707388 19990101 RGD 724563 Uae10 Urinary albumin excretion QTL 10 qtl DOID:9001542 Albuminuria QTM D RGD:634617|PMID:12707388 19990101 RGD 724564 Uae11 Urinary albumin excretion QTL 11 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724565 Tcas5 Tongue tumor susceptibility QTL 5 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:634723|PMID:11429048 19990101 RGD 724566 Uae12 Urinary albumin excretion QTL 12 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724567 Tcas6 Tongue tumor susceptibility QTL 6 qtl DOID:9005873 Tongue Neoplasms IDA D RGD:634723|PMID:11429048 19990101 RGD 724568 Uae13 Urinary albumin excretion QTL 13 qtl DOID:9001542 Albuminuria IDA D RGD:634617|PMID:12707388 19990101 RGD 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:0050851 glomerulosclerosis IAGP D RGD:2312602|PMID:18647879 20191220 RGD as compared to SHR/FubRkb 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:0050851 glomerulosclerosis sexual_dimorphism IAGP D RGD:1642911|PMID:17953514 20200226 RGD compared to female MWF/FubRkb strain 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:10763 hypertension treatment IAGP XCO:0000160 D RGD:25314239|PMID:32088716 20210315 RGD compared to Wi 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria IAGP D RGD:15023481|PMID:30900988 20210819 RGD compared to SHR, MWF-6SHR, MWF.SHR-(D6Rat1-D6Mgh4) 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria IAGP D RGD:2312602|PMID:18647879 20191220 RGD as compared to SHR/FubRkb, MWF-Chr 8SHR/Rkb 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria IAGP D RGD:25314252|PMID:23868088 20210311 RGD compared to SHR, MWF-Chr 6SHR and WKY 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria IAGP D RGD:25314272|PMID:16915036 20210709 RGD compared to Wi 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria MODEL: spontaneous IAGP D RGD:1600609|PMID:17167120 20080924 RGD compared to SHR/FubRkb, MWF-Chr 6SHR/Rkb strains 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria MODEL: spontaneous IAGP D RGD:634618|PMID:12397040 20191216 RGD compared to LEW/Rkb 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria induced IAGP XCO:0000114 D RGD:25314248|PMID:20864942 20210324 RGD compared to WU-Nx, MWF-Nx-ACEI and MWF-Sham 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria sexual_dimorphism IAGP D RGD:1642911|PMID:17953514 20200226 RGD compared to female MWF/FubRkb strain 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9001542 Albuminuria treatment IAGP XCO:0000160 D RGD:25314239|PMID:32088716 20210315 RGD compared to Wi 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9004303 Tubulointerstitial Fibrosis IAGP D RGD:1642911|PMID:17953514 20200219 RGD compared to SHR/FubRkb 724569 MWF/FubRkb Munich Wistar Fromter strain DOID:9004303 Tubulointerstitial Fibrosis sexual_dimorphism IAGP D RGD:1642911|PMID:17953514 20200128 RGD compared to female MWF/FubRkb strain 724573 SS/JrTol Dahl salt-sensitive (SS/Jr) rats strain DOID:9001542 Albuminuria IAGP D RGD:1625111|PMID:17504948 20191126 RGD 724574 SHR/NHsd strain DOID:9002221 Hyperplasia susceptibility IAGP D RGD:2316923|PMID:20026763 20201208 RGD 724576 KDP/Tky Komeda diabetes-prone rat strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:41412159|PMID:10395228 20210218 RGD compared to KND/Tky 724576 KDP/Tky Komeda diabetes-prone rat strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:634732|PMID:9329965 20210218 RGD compared to KND/Tky 7247279 SD-Tg(TRE-FUS-R521C)Xgx strain DOID:9255 frontotemporal dementia MODEL: induced IMP D RGD:9685710|PMID:21408206 20190726 RGD 7247442 Uae39 Urinary albumin excretion QTL 39 qtl DOID:9001542 Albuminuria IDA D RGD:1578520|PMID:16534143 20130716 RGD 7248453 SS.BN-(D12Hmgc3-AU047911)/Mcwi strain DOID:10763 hypertension MODEL: induced IAGP D RGD:8693701|PMID:25001272 20140724 RGD 8% NaCl diet; compared to SS-Chr12BN 7248453 SS.BN-(D12Hmgc3-AU047911)/Mcwi strain DOID:9001542 Albuminuria IAGP D RGD:8693701|PMID:25001272 20140724 RGD 727731 Myrip myosin VIIA and Rab interacting protein gene DOID:630 genetic disease ISO RGD:1351320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727777 Smagp small cell adhesion glycoprotein gene DOID:630 genetic disease ISO RGD:1607014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727778 Rhebl1 RHEB like 1 gene DOID:0080600 COVID-19 ISO RGD:1346400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727778 Rhebl1 RHEB like 1 gene DOID:630 genetic disease ISO RGD:1346400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727779 Nek6 NIMA-related kinase 6 gene DOID:630 genetic disease ISO RGD:1347059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727779 Nek6 NIMA-related kinase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347059 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 727780 Gpx2 glutathione peroxidase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1345750 D RGD:151665806|PMID:30469315 20220404 RGD mRNA:increased expression:colorectum (human) 727780 Gpx2 glutathione peroxidase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1345750 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 727780 Gpx2 glutathione peroxidase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1345750 D RGD:151665806|PMID:30469315 20220404 RGD mRNA:increased expression:colorectum (human) 727780 Gpx2 glutathione peroxidase 2 gene DOID:219 colon cancer treatment ISO RGD:735351 D RGD:152995480|PMID:28045589 20220624 RGD associated with Inflammation 727780 Gpx2 glutathione peroxidase 2 gene DOID:630 genetic disease ISO RGD:1345750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727780 Gpx2 glutathione peroxidase 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:1345750 D RGD:152998902|PMID:18479189 20220630 RGD protein:increased expression:large intestine (human) 727780 Gpx2 glutathione peroxidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23867582 727780 Gpx2 glutathione peroxidase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1345750 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 727780 Gpx2 glutathione peroxidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345750 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18056462 727780 Gpx2 glutathione peroxidase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345750 D RGD:152998902|PMID:18479189 20220630 RGD protein:increased expression:large intestine (human) 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344755 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1344755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:7240710 20160907 OMIM 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16199547|PMID:17576681|PMID:20835237|PMID:22190896|PMID:22626039|PMID:23188109|PMID:25741868|PMID:27486776|PMID:28492532|PMID:9536098 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:12712 nephronophthisis ISS RGD:1623115 D RGD:13592920 20220929 MouseDO 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1540 parathyroid carcinoma ISO RGD:1344755 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:20835237|PMID:21866095|PMID:22190896|PMID:23559409|PMID:25741868|PMID:28492532 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:2975 cystic kidney disease ISO RGD:1344755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:557 kidney disease ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:5679 retinal disease ISO RGD:1344755 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:630 genetic disease ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20835237|PMID:22190896|PMID:25741868|PMID:28492532 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1344755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:28492532 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:7240710 20140911 OMIM 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:16199547|PMID:17576681|PMID:20835237|PMID:21866095|PMID:22190896|PMID:22626039|PMID:23188109|PMID:23559409|PMID:25640679|PMID:25741868|PMID:26968886|PMID:27486776|PMID:28492532|PMID:32432520|PMID:9536098 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344755 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727781 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344755 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:9536098 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:33244021|PMID:33673806|PMID:33762593 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:7240710 20130221 OMIM 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART PMID:10355918|PMID:10368461|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18348270|PMID:18403758|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23741347|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24938736|PMID:25606385|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26265630|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28546535|PMID:28690312|PMID:28707430|PMID:28771489|PMID:28801758|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30336887|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31720784|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32215636|PMID:32259713|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:14519435|PMID:24033266|PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:33244021|PMID:33673806|PMID:33762593 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:7240710 20130221 OMIM 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 PMID:10355918|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24558114|PMID:25092788|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593|PMID:7657794 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1346463 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:23778007|PMID:23992123|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28498465 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:10763 hypertension ISO RGD:1346463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hypertension PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10355918|PMID:10368461|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25092788|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28801758|PMID:28917552|PMID:29298659|PMID:30165862|PMID:30336887|PMID:31513939|PMID:31737537|PMID:32314121|PMID:32681253|PMID:33244021|PMID:33673806 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1549995 D RGD:1580716|PMID:16275868 19990101 RGD 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346463 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:1346463 D RGD:1580717|PMID:15877279 19990101 RGD 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2843 long QT syndrome ISO RGD:1346463 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:3393 coronary artery disease ISO RGD:1346463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:1580718|PMID:15611370 20170315 RGD 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:1580719|PMID:11748095 19990101 RGD 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:7240710 20130221 OMIM 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29253866|PMID:29298659|PMID:32746448 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:6000 congestive heart failure ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:21409595|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1346463 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1346463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1346463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 727782 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9007096 Stroke ISO RGD:1346463 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 727783 Slc35b1 solute carrier family 35, member B1 gene DOID:630 genetic disease ISO RGD:1351742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727784 Tsks testis-specific serine kinase substrate gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 727784 Tsks testis-specific serine kinase substrate gene DOID:2661 myoepithelioma ISO RGD:1602690 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 727784 Tsks testis-specific serine kinase substrate gene DOID:630 genetic disease ISO RGD:1602690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727785 Smyd2 SET and MYND domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354091 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727785 Smyd2 SET and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1354091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727785 Smyd2 SET and MYND domain containing 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1354091 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:25825497 727785 Smyd2 SET and MYND domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354091 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727786 Ppp2r5b protein phosphatase 2, regulatory subunit B', beta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 727786 Ppp2r5b protein phosphatase 2, regulatory subunit B', beta gene DOID:1059 intellectual disability ISO RGD:1353441 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727786 Ppp2r5b protein phosphatase 2, regulatory subunit B', beta gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 727786 Ppp2r5b protein phosphatase 2, regulatory subunit B', beta gene DOID:2746 glycogen storage disease V ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 727786 Ppp2r5b protein phosphatase 2, regulatory subunit B', beta gene DOID:3070 high grade glioma ISO RGD:1353441 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 727786 Ppp2r5b protein phosphatase 2, regulatory subunit B', beta gene DOID:630 genetic disease ISO RGD:1353441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727787 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1324 lung cancer ISO RGD:1346040 D RGD:2317633|PMID:12527896 20100413 RGD DNA:hypermethylation:promoter (human) 727787 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1793 pancreatic cancer ISO RGD:1346040 D RGD:2317633|PMID:12527896 20100413 RGD DNA:hypermethylation:promoter (human) 727787 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:219 colon cancer ISO RGD:1346040 D RGD:2317633|PMID:12527896 20100413 RGD DNA:hypermethylation:promoter (human) 727787 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346040 D RGD:152998954|PMID:27777637 20220708 RGD DNA:hypermethylation 727787 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727788 Tmem255a transmembrane protein 255A gene DOID:0050437 Danon disease ISO RGD:1605993 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 727788 Tmem255a transmembrane protein 255A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605993 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 727788 Tmem255a transmembrane protein 255A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 727788 Tmem255a transmembrane protein 255A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:17236139|PMID:25385192|PMID:28492532 727788 Tmem255a transmembrane protein 255A gene DOID:12849 autistic disorder ISO RGD:1605993 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727788 Tmem255a transmembrane protein 255A gene DOID:630 genetic disease ISO RGD:1605993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344241 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1344241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1344241 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:7240710 20170503 OMIM 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 PMID:23122588|PMID:25741868|PMID:9747372 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:12849 autistic disorder ISO RGD:1344241 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727789 Cox7b cytochrome c oxidase subunit 7B gene DOID:1838 Menkes disease ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 727790 Kif15 kinesin family member 15 gene DOID:0080600 COVID-19 ISO RGD:1351410 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727790 Kif15 kinesin family member 15 gene DOID:2986 IgA glomerulonephritis ISO RGD:1351410 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 727790 Kif15 kinesin family member 15 gene DOID:3770 pulmonary fibrosis ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:35417304 727790 Kif15 kinesin family member 15 gene DOID:630 genetic disease ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727790 Kif15 kinesin family member 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1351410 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 727790 Kif15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:7240710 20220810 OMIM 727790 Kif15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Braddock-Carey syndrome 2 PMID:28150392 727792 Isca1 iron-sulfur cluster assembly 1 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1350652 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25741868|PMID:28356563|PMID:30105122|PMID:31580634 727792 Isca1 iron-sulfur cluster assembly 1 gene DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ISO RGD:1350652 D RGD:7240710 20190315 OMIM 727792 Isca1 iron-sulfur cluster assembly 1 gene DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ISO RGD:1350652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 5 PMID:25741868|PMID:28356563|PMID:29767723|PMID:30105122|PMID:30113620|PMID:31580634 727792 Isca1 iron-sulfur cluster assembly 1 gene DOID:630 genetic disease ISO RGD:1350652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727793 Rdh10 retinol dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:1351497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727793 Rdh10 retinol dehydrogenase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351497 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 727793 Rdh10 retinol dehydrogenase 10 gene DOID:9001916 Fetal Death ISO RGD:1351497 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 727793 Rdh10 retinol dehydrogenase 10 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351497 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 727795 Tfb1m transcription factor B1, mitochondrial gene DOID:630 genetic disease ISO RGD:1351892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727796 Chp2 calcineurin-like EF hand protein 2 gene DOID:630 genetic disease ISO RGD:1606515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727797 Rtn4rl2 reticulon 4 receptor-like 2 gene DOID:1059 intellectual disability ISO RGD:1344970 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727797 Rtn4rl2 reticulon 4 receptor-like 2 gene DOID:630 genetic disease ISO RGD:1344970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:3068 glioblastoma ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:630 genetic disease ISO RGD:1314969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9007188 Liver Neoplasms ISO RGD:1314969 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727798 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1314969 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 727799 Astn1 astrotactin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602904 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727799 Astn1 astrotactin 1 gene DOID:630 genetic disease ISO RGD:1602904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727799 Astn1 astrotactin 1 gene DOID:9000998 Brain Injuries ISO RGD:1602904 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 727799 Astn1 astrotactin 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602904 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 727799 Astn1 astrotactin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602904 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727800 Slc10a6 solute carrier family 10 member 6 gene DOID:630 genetic disease ISO RGD:1604951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727800 Slc10a6 solute carrier family 10 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1604951 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30186172 727801 Nadsyn1 NAD synthetase 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602697 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 727801 Nadsyn1 NAD synthetase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 727801 Nadsyn1 NAD synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1602697 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727801 Nadsyn1 NAD synthetase 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:1602697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532 727801 Nadsyn1 NAD synthetase 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:1602697 D RGD:13703114|PMID:22740028 20180802 RGD 727801 Nadsyn1 NAD synthetase 1 gene DOID:630 genetic disease ISO RGD:1602697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532 727801 Nadsyn1 NAD synthetase 1 gene DOID:9003370 Dyslipidemias susceptibility ISO RGD:1602697 D RGD:13703112|PMID:24073860 20180802 RGD DNA:SNP: :rs12785878 G>T(human) 727801 Nadsyn1 NAD synthetase 1 gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:1602697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:31883644|PMID:34681008|PMID:35491967 727801 Nadsyn1 NAD synthetase 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:1602697 D RGD:11251488|PMID:22785457 20180802 RGD DNA:SNP: :rs10898191(human) 727801 Nadsyn1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:7240710 20200513 OMIM 727801 Nadsyn1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 3 PMID:12547821|PMID:12771147|PMID:25741868|PMID:28492532|PMID:31883644 727802 Terc telomerase RNA component gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17392301|PMID:17460043|PMID:23535734 727802 Terc telomerase RNA component gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353130 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:17392301 727802 Terc telomerase RNA component gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1353130 D RGD:7240710 20180418 OMIM 727802 Terc telomerase RNA component gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1353130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:10721988|PMID:11574891|PMID:12090986|PMID:12676774|PMID:12972604|PMID:14630445|PMID:15082312|PMID:15098033|PMID:15319288|PMID:15550482|PMID:15886322|PMID:16332973|PMID:17460043|PMID:17640862|PMID:18931339|PMID:19095616|PMID:19835419|PMID:20022961|PMID:20193600|PMID:21844345|PMID:21931702|PMID:22341970|PMID:24033266|PMID:24763404|PMID:25612863|PMID:25741868|PMID:26024875|PMID:26136524|PMID:27192671|PMID:27622320|PMID:28192371|PMID:28492532|PMID:29146883|PMID:30426156|PMID:30523342|PMID:31265491 727802 Terc telomerase RNA component gene DOID:10283 prostate cancer ISO RGD:1353130 D RGD:2291970|PMID:14614009 20080407 RGD DNA:amplification:prostate gland 727802 Terc telomerase RNA component gene DOID:1062 Fanconi syndrome ISO RGD:1353130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 727802 Terc telomerase RNA component gene DOID:11054 urinary bladder cancer ISO RGD:1353130 D RGD:2291986|PMID:17644139 20080710 RGD RNA:increased expression:urine 727802 Terc telomerase RNA component gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1353130 D RGD:2291967|PMID:16104909 20080407 RGD RNA:increased expression:urinary bladder 727802 Terc telomerase RNA component gene DOID:11476 osteoporosis ISS RGD:1616824 D RGD:13592920 20180518 MouseDO OMIM:166710 727802 Terc telomerase RNA component gene DOID:12449 aplastic anemia ISO RGD:1353130 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:12090986|PMID:12676774|PMID:12972604|PMID:15082312|PMID:15098033|PMID:15319288|PMID:15550482|PMID:17640862|PMID:19095616|PMID:19835419|PMID:20022961|PMID:21844345|PMID:22341970|PMID:24033266|PMID:25612863|PMID:25741868|PMID:28492532 727802 Terc telomerase RNA component gene DOID:1612 breast cancer ISO RGD:1353130 D RGD:2291973|PMID:11051224 20080407 RGD RNA:increased expression:serum 727802 Terc telomerase RNA component gene DOID:1749 squamous cell carcinoma ISO RGD:1353130 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16051514 727802 Terc telomerase RNA component gene DOID:1909 melanoma ISO RGD:1353130 D RGD:152995261|PMID:25231748 20220610 RGD DNA:SNP:cds:rs10936599|rs12696304 (human) 727802 Terc telomerase RNA component gene DOID:1909 melanoma ISO RGD:1353130 D RGD:2291969|PMID:14654933 20080407 RGD RNA:increased expression:plasma 727802 Terc telomerase RNA component gene DOID:2154 nephroblastoma disease_progression ISO RGD:1353130 D RGD:2291966|PMID:16172460 20080407 RGD 727802 Terc telomerase RNA component gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1353130 D RGD:2291974|PMID:10570439 20080407 RGD RNA:increased expression:ureter urothelium 727802 Terc telomerase RNA component gene DOID:2729 dyskeratosis congenita ISO RGD:1353130 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17785587 727802 Terc telomerase RNA component gene DOID:2729 dyskeratosis congenita ISO RGD:1353130 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10721988|PMID:21844345|PMID:28492532 727802 Terc telomerase RNA component gene DOID:3459 breast carcinoma disease_progression ISO RGD:1353130 D RGD:2291965|PMID:16841302 20080407 RGD 727802 Terc telomerase RNA component gene DOID:3459 breast carcinoma disease_progression ISO RGD:1353130 D RGD:2291971|PMID:12237877 20080407 RGD RNA:increased expression:breast 727802 Terc telomerase RNA component gene DOID:3770 pulmonary fibrosis ISO RGD:1353130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:10721988|PMID:14630445|PMID:15082312|PMID:15886322|PMID:17460043|PMID:20193600|PMID:21844345|PMID:25741868|PMID:26136524|PMID:28192371|PMID:28492532 727802 Terc telomerase RNA component gene DOID:4450 renal cell carcinoma ISO RGD:1353130 D RGD:2291972|PMID:11156238 20080407 RGD RNA:decreased expression:kidney 727802 Terc telomerase RNA component gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1353130 D RGD:152977753|PMID:10498642 20220602 RGD RNA:increased expression:hepatocyte,biliary epithelium. 727802 Terc telomerase RNA component gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1353130 D RGD:2291968|PMID:15793301 20080407 RGD DNA:amplification:uterine cervix, epithelial cell 727802 Terc telomerase RNA component gene DOID:9000785 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 ISO RGD:1353130 D RGD:7240710 20150701 OMIM 727802 Terc telomerase RNA component gene DOID:9000785 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 ISO RGD:1353130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 PMID:12090986|PMID:12676774|PMID:12972604|PMID:14630445|PMID:15082312|PMID:15098033|PMID:15319288|PMID:17392301|PMID:17640862|PMID:18753630|PMID:19760749|PMID:20022961|PMID:21844345|PMID:21931702|PMID:22341970|PMID:24033266|PMID:24763404|PMID:25612863|PMID:25741868|PMID:26024875|PMID:28492532|PMID:29146883|PMID:29483670|PMID:30426156|PMID:31265491 727802 Terc telomerase RNA component gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1353130 D RGD:11554173 20180424 CTD CTD Direct Evidence: marker/mechanism 727802 Terc telomerase RNA component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353130 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16520278 727802 Terc telomerase RNA component gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1353130 D RGD:2298557|PMID:14532990 20080711 RGD 727802 Terc telomerase RNA component gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1353130 D RGD:2291964|PMID:17054308 20080407 RGD DNA:amplification:uterine cervix 727802 Terc telomerase RNA component gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353130 D RGD:2291969|PMID:14654933 20080407 RGD RNA:increased expression:plasma 727802 Terc telomerase RNA component gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1616824 D RGD:2291975|PMID:9857231 20080407 RGD RNA:increased expression:mammary gland 727802 Terc telomerase RNA component gene DOID:9005873 Tongue Neoplasms ISO RGD:1353130 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16051514 727803 Cd2ap CD2-associated protein gene DOID:0080600 COVID-19 ISO RGD:1347906 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 727803 Cd2ap CD2-associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:7240710 20180307 OMIM 727803 Cd2ap CD2-associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to PMID:10514378|PMID:17713465|PMID:18443213|PMID:19131354|PMID:22971997|PMID:24033266|PMID:25741868|PMID:26346198|PMID:28492532|PMID:30406062|PMID:30612599|PMID:33712733 727803 Cd2ap CD2-associated protein gene DOID:10283 prostate cancer ISO RGD:1347906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 727803 Cd2ap CD2-associated protein gene DOID:10652 Alzheimer's disease ISO RGD:1347906 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841|PMID:30320580 727803 Cd2ap CD2-associated protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347906 D RGD:11554173 20180227 CTD CTD Direct Evidence: marker/mechanism 727803 Cd2ap CD2-associated protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347906 D RGD:1600628|PMID:12764198 20070321 RGD FSGS3, OMIM:607832, DNA:splice-site mutaton 727803 Cd2ap CD2-associated protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 727803 Cd2ap CD2-associated protein gene DOID:557 kidney disease ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 727803 Cd2ap CD2-associated protein gene DOID:630 genetic disease ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 727803 Cd2ap CD2-associated protein gene DOID:783 end stage renal disease ISS RGD:1550249 D RGD:13592920 20201217 MouseDO 727803 Cd2ap CD2-associated protein gene DOID:9004009 Reperfusion Injury IEP D RGD:1581187|PMID:16088078 19990101 RGD 727804 Mustn1 musculoskeletal, embryonic nuclear protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1352078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 727806 Plppr4 phospholipid phosphatase related 4 gene DOID:630 genetic disease ISO RGD:1605099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727807 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1343696 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 727807 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:10325 silicosis IEP D RGD:10059658|PMID:19534998 20150824 RGD protein:increased expression:lung 727807 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:5419 schizophrenia ISO RGD:1343696 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 727808 Gpr119 G protein-coupled receptor 119 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736973 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 727808 Gpr119 G protein-coupled receptor 119 gene DOID:12849 autistic disorder ISO RGD:736973 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727808 Gpr119 G protein-coupled receptor 119 gene DOID:630 genetic disease ISO RGD:736973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727809 Stk25 serine/threonine kinase 25 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 727809 Stk25 serine/threonine kinase 25 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 727809 Stk25 serine/threonine kinase 25 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 727809 Stk25 serine/threonine kinase 25 gene DOID:1059 intellectual disability ISO RGD:1342524 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727809 Stk25 serine/threonine kinase 25 gene DOID:630 genetic disease ISO RGD:1342524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727809 Stk25 serine/threonine kinase 25 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 727810 Frmd6 FERM domain containing 6 gene DOID:630 genetic disease ISO RGD:1347019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:7240710 20130221 OMIM 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: H syndrome PMID:16118898|PMID:16155931|PMID:16199547|PMID:16650224|PMID:17461801|PMID:17576681|PMID:18414213|PMID:18940313|PMID:18947330|PMID:19175903|PMID:19336477|PMID:19889517|PMID:20140240|PMID:20199539|PMID:20595384|PMID:20619369|PMID:21178579|PMID:21888995|PMID:22238637|PMID:22653152|PMID:22679148|PMID:22875837|PMID:23406517|PMID:23530176|PMID:23789599|PMID:24172204|PMID:24894595|PMID:25741868|PMID:25963354|PMID:25967258|PMID:26074390|PMID:27143505|PMID:27215564|PMID:27364927|PMID:28492532|PMID:28554179|PMID:29041934|PMID:29751792|PMID:29808591|PMID:30537558|PMID:30783801|PMID:31276222|PMID:31464584|PMID:33837634|PMID:33947670|PMID:9536098|PMID:9545394 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:1682 congenital heart disease ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:1924 hypogonadism ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:3138 acanthosis nigricans ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:3405 histiocytosis ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22238637 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:420 hypertrichosis ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:630 genetic disease ISO RGD:1351725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9000755 Asrar Facharzt Haque Syndrome ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9001904 Sinus Histiocytosis ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9003984 Hyperpigmentation ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9004538 Hearing Loss ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9006667 Dysosteosclerosis ISO RGD:1351725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysosteosclerosis PMID:28492532|PMID:33837634 727811 Slc29a3 solute carrier family 29 member 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351725 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 727812 Rtn4rl1 reticulon 4 receptor-like 1 gene DOID:630 genetic disease ISO RGD:1348623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727813 Rhbg Rh family B glycoprotein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 727813 Rhbg Rh family B glycoprotein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 727813 Rhbg Rh family B glycoprotein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 727813 Rhbg Rh family B glycoprotein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 727813 Rhbg Rh family B glycoprotein gene DOID:1540 parathyroid carcinoma ISO RGD:1351825 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727813 Rhbg Rh family B glycoprotein gene DOID:5812 MHC class II deficiency ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 727813 Rhbg Rh family B glycoprotein gene DOID:630 genetic disease ISO RGD:1351825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727813 Rhbg Rh family B glycoprotein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351825 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727815 Cd276 Cd276 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 727815 Cd276 Cd276 molecule gene DOID:2717 Bloom syndrome ISO RGD:1604282 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 727815 Cd276 Cd276 molecule gene DOID:2843 long QT syndrome ISO RGD:1604282 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 727815 Cd276 Cd276 molecule gene DOID:3320 Tay-Sachs disease ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 727815 Cd276 Cd276 molecule gene DOID:5419 schizophrenia ISO RGD:1604282 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727815 Cd276 Cd276 molecule gene DOID:630 genetic disease ISO RGD:1604282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727815 Cd276 Cd276 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1604282 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16217749 727815 Cd276 Cd276 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604282 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 727815 Cd276 Cd276 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604282 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 727815 Cd276 Cd276 molecule gene DOID:9256 colorectal cancer ISO RGD:1604282 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 727816 Npm2 nucleophosmin/nucleoplasmin 2 gene DOID:630 genetic disease ISO RGD:737293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727817 Gnat3 G protein subunit alpha transducin 3 gene DOID:12336 male infertility ISO RGD:1604949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 727817 Gnat3 G protein subunit alpha transducin 3 gene DOID:1826 epilepsy ISO RGD:1604949 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 727817 Gnat3 G protein subunit alpha transducin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604949 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727817 Gnat3 G protein subunit alpha transducin 3 gene DOID:630 genetic disease ISO RGD:1604949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727817 Gnat3 G protein subunit alpha transducin 3 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2302147|PMID:18824257 20081121 RGD mRNA, protein;increased expression:taste bud 727819 Pxk PX domain containing serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1348394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727819 Pxk PX domain containing serine/threonine kinase gene DOID:7148 rheumatoid arthritis ISO RGD:1348394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 727819 Pxk PX domain containing serine/threonine kinase gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1348394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 727819 Pxk PX domain containing serine/threonine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1348394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:0060075 estrogen-receptor positive breast cancer ISO RGD:1347348 D RGD:153298970|PMID:25620615 20220802 RGD DNA:hypermethylation: 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:1612 breast cancer exacerbates ISO RGD:1347348 D RGD:153298911|PMID:19549921 20220728 RGD 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347348 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1347348 D RGD:153298911|PMID:19549921 20220728 RGD DNA:hypermethylation:CpG island 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3459 breast carcinoma ISO RGD:1347348 D RGD:153297792|PMID:29882245 20220726 RGD protein:increased expression:breast 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3571 liver cancer ISO RGD:1347348 D RGD:153297784|PMID:32782619 20220726 RGD mRNA:increased expression:liver 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347348 D RGD:153298914|PMID:21429053 20220728 RGD DNA:hypermethylation:promoter 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1347348 D RGD:153297789|PMID:22354764 20220726 RGD 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma ISO RGD:1347348 D RGD:153297792|PMID:29882245 20220726 RGD protein:increased expression:lung 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347348 D RGD:153297795|PMID:30190423 20220726 RGD 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347348 D RGD:11531771|PMID:26800504 20220728 RGD 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1347348 D RGD:153297794|PMID:20112342 20220726 RGD 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:630 genetic disease ISO RGD:1347348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:7596 asbestos-related lung carcinoma ISO RGD:1347348 D RGD:153298907|PMID:20544843 20220728 RGD associated with lung adenocarcinoma ;mRNA:increased expression:lung 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347348 D RGD:153298970|PMID:25620615 20220802 RGD associated with breast cancer;DNA:hypermethylation: 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347348 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9005172 Lung Neoplasms ISO RGD:1347348 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:20544843 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:11531771|PMID:26800504 20220728 RGD associated with lung adenocarcinoma; 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:153297785|PMID:22636800 20220726 RGD associated with lung carcinoma, breast carcinoma 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer ISO RGD:1347348 D RGD:153298906|PMID:27661126 20220728 RGD mRNA,protein:decreased expression:colorectum 727820 Adam28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer severity ISO RGD:1347348 D RGD:153298908|PMID:31565100 20220728 RGD 727821 Nit1 nitrilase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 727821 Nit1 nitrilase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349751 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727821 Nit1 nitrilase 1 gene DOID:630 genetic disease ISO RGD:1349751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727821 Nit1 nitrilase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349751 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727823 Plppr3 phospholipid phosphatase related 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1602461 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 727823 Plppr3 phospholipid phosphatase related 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1602461 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 727823 Plppr3 phospholipid phosphatase related 3 gene DOID:630 genetic disease ISO RGD:1602461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727825 Pigu phosphatidylinositol glycan anchor biosynthesis, class U gene DOID:2843 long QT syndrome ISO RGD:1352875 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 727825 Pigu phosphatidylinositol glycan anchor biosynthesis, class U gene DOID:630 genetic disease ISO RGD:1352875 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727825 Pigu phosphatidylinositol glycan anchor biosynthesis, class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:7240710 20191002 OMIM 727825 Pigu phosphatidylinositol glycan anchor biosynthesis, class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21 PMID:25741868|PMID:31353022 727826 Cbr4 carbonyl reductase 4 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 727826 Cbr4 carbonyl reductase 4 gene DOID:1793 pancreatic cancer ISO RGD:1602997 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:25741868|PMID:28492532 727826 Cbr4 carbonyl reductase 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1602997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:17576681|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 727826 Cbr4 carbonyl reductase 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 727826 Cbr4 carbonyl reductase 4 gene DOID:630 genetic disease ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727826 Cbr4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:28492532 727826 Cbr4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28166811|PMID:28492532 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1316123 D RGD:5135283|PMID:21124994 20110719 RGD 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:0080600 COVID-19 ISO RGD:1316122 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:0081267 graft-versus-host disease ISO RGD:1316123 D RGD:5135435|PMID:19218194 20110720 RGD protein:increased expression:intestine, liver, lung 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:10608 celiac disease ISO RGD:1316122 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1316122 D RGD:5135438|PMID:17550373 20110720 RGD protein:increased expression:serum 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:13949 interstitial cystitis ISO RGD:1316122 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316122 D RGD:5135451|PMID:12097412 20110720 RGD protein:increased expression:respiratory system fluid/secretion 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316123 D RGD:5135451|PMID:12097412 20110720 RGD 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1316123 D RGD:32716426|PMID:32553273 20200630 RGD 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1316122 D RGD:5135436|PMID:17925429 20110720 RGD protein:increased expression:sputum 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316122 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:630 genetic disease ISO RGD:1316122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1316123 D RGD:11344640|PMID:26569409 20210421 RGD mRNA:increased expression:liver (mouse) 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1316123 D RGD:5135448|PMID:14991597 20110720 RGD 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:874 bacterial pneumonia ISO RGD:1316123 D RGD:5135459|PMID:15618188 20110721 RGD 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 727827 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1316122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 727828 Adi1 acireductone dioxygenase 1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1602478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 727828 Adi1 acireductone dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1602478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727828 Adi1 acireductone dioxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602478 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17786183 727829 Sgpp1 sphingosine-1-phosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:1343984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727831 Ermp1 endoplasmic reticulum metallopeptidase 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 727831 Ermp1 endoplasmic reticulum metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1348332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727835 Myadm myeloid-associated differentiation marker gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1353717 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 727835 Myadm myeloid-associated differentiation marker gene DOID:630 genetic disease ISO RGD:1353717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727835 Myadm myeloid-associated differentiation marker gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353717 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:0080600 COVID-19 ISO RGD:735895 D RGD:9068941 20201203 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:10283 prostate cancer ISO RGD:735895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:19066229|PMID:21507883|PMID:23265383|PMID:24105752 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:12365 malaria severity ISO D RGD:38676475|PMID:21889618 20200920 RGD DNA:deletion:cds 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:1883 hepatitis C susceptibility ISO D RGD:38676472|PMID:28225833 20200918 RGD DNA:deletion:cds 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:399 tuberculosis susceptibility ISO D RGD:38676470|PMID:23073291 20200918 RGD DNA:deletion:cds 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735895 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:17496894 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735895 D RGD:7240710 20230505 OMIM 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO D RGD:38676444|PMID:31863692 20200925 RGD DNA:deletion:cds 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:630 genetic disease ISO RGD:735895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:635 acquired immunodeficiency syndrome severity ISO RGD:1352085 D RGD:38676267|PMID:29461980 20200917 RGD DNA:missense mutation:cds: p.I47V (rs643347) (human) 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:9003652 Hydatidiform Mole, Recurrent, 1 ISO RGD:735895 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 PMID:19066229|PMID:21507883|PMID:24105752 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:9004017 Chronic Hepatitis C severity ISO D RGD:38676473|PMID:19470388 20200919 RGD protein:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) 727836 Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 gene DOID:9004017 Chronic Hepatitis C severity ISO D RGD:38676476|PMID:27239111 20200920 RGD protein:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) 727838 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:0111961 immunodeficiency 26 ISO RGD:1318163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 727840 Cox8c cytochrome c oxidase subunit 8C gene DOID:0080054 achondrogenesis type IA ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 727840 Cox8c cytochrome c oxidase subunit 8C gene DOID:0081063 DICER1 syndrome ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 727840 Cox8c cytochrome c oxidase subunit 8C gene DOID:630 genetic disease ISO RGD:1344927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606954 D RGD:9685139|PMID:19641524 20141217 RGD 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:7240710 20130731 OMIM 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 44 PMID:12483295|PMID:17503326|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30311386 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:9685138|PMID:17503326 20141217 RGD DNA:duplication:cds:c.1394_1401dupCACGGCAT(human) 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:5419 schizophrenia ISO RGD:1606954 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:630 genetic disease ISO RGD:1606954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 727841 Ccdc50 coiled-coil domain containing 50 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606954 D RGD:9685139|PMID:19641524 20141217 RGD 727843 Serinc1 serine incorporator 1 gene DOID:1826 epilepsy ISO RGD:1349070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 727843 Serinc1 serine incorporator 1 gene DOID:630 genetic disease ISO RGD:1349070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727844 Gpr135 G protein-coupled receptor 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736248 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 727844 Gpr135 G protein-coupled receptor 135 gene DOID:630 genetic disease ISO RGD:736248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727845 F8 coagulation factor VIII gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727845 F8 coagulation factor VIII gene DOID:0050476 Barth syndrome ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727845 F8 coagulation factor VIII gene DOID:0050800 creatine transporter deficiency ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727845 F8 coagulation factor VIII gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1343567 D RGD:10766469|PMID:16409463 20180124 RGD protein:decreased expression:plasma 727845 F8 coagulation factor VIII gene DOID:0080600 COVID-19 ISO RGD:1343567 D RGD:11554173 20220405 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 727845 F8 coagulation factor VIII gene DOID:0111823 autosomal hemophilia A ISO RGD:1343567 D RGD:8554872 20200804 ClinVar ClinVar Annotator: match by term: Mild hemophilia A PMID:29357978 727845 F8 coagulation factor VIII gene DOID:0112003 immunodeficiency 33 ISO RGD:1343567 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 727845 F8 coagulation factor VIII gene DOID:10588 adrenoleukodystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727845 F8 coagulation factor VIII gene DOID:10907 microcephaly ISO RGD:1343567 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 727845 F8 coagulation factor VIII gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency IAGP D RGD:7245964|PMID:20626616 20180525 RGD DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency IMP D RGD:11530071|PMID:24931420 20160826 RGD 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:10450758|PMID:10612839 20160120 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11918545|PMID:16051741 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:1582357|PMID:16786531 20061106 RGD 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:7240710 20130221 OMIM 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital PMID:10215414|PMID:10338101|PMID:10404764|PMID:10519986|PMID:10609755|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11110718|PMID:11189482|PMID:11251334|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11554935|PMID:11713379|PMID:11748850|PMID:11843836|PMID:11857744|PMID:11858487|PMID:12139751|PMID:12204009|PMID:12325022|PMID:12351418|PMID:12406074|PMID:12871415|PMID:12884004|PMID:1301194|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:1412186|PMID:1523102|PMID:15471879|PMID:15569173|PMID:1559571|PMID:15625837|PMID:15670040|PMID:1569180|PMID:1569181|PMID:15710596|PMID:15735794|PMID:15741993|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:1639429|PMID:1643024|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17209060|PMID:17222201|PMID:17445092|PMID:17498081|PMID:17550859|PMID:17610549|PMID:17610560|PMID:18034822|PMID:18184865|PMID:18217193|PMID:18371163|PMID:18387975|PMID:18403393|PMID:1840568|PMID:18479430|PMID:1851341|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1908817|PMID:1923751|PMID:1924291|PMID:19369668|PMID:19377476|PMID:19448530|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:1969840|PMID:19719548|PMID:19719828|PMID:1973901|PMID:19740093|PMID:1979502|PMID:20028422|PMID:20102490|PMID:20108389|PMID:20193250|PMID:20300295|PMID:20301578|PMID:20331753|PMID:20331761|PMID:20431853|PMID:20533009|PMID:20536985|PMID:20800587|PMID:2104741|PMID:2104766|PMID:2105106|PMID:2105906|PMID:2106480|PMID:21070499|PMID:2107542|PMID:2109644|PMID:2110545|PMID:2121026|PMID:2121641|PMID:21217077|PMID:2125022|PMID:21371196|PMID:21462120|PMID:2159433|PMID:21645180|PMID:21645224|PMID:21645226|PMID:21689372|PMID:21751985|PMID:21838755|PMID:21883705|PMID:21910785|PMID:22103590|PMID:22958177|PMID:23534532|PMID:23625609|PMID:23711237|PMID:23711294|PMID:23809411|PMID:23812942|PMID:23913812|PMID:23926300|PMID:23961341|PMID:23963097|PMID:24033266|PMID:24086941|PMID:24108539|PMID:24118398|PMID:24134483|PMID:2473810|PMID:2493803|PMID:2495245|PMID:24953131|PMID:2498882|PMID:2506948|PMID:2510835|PMID:25326637|PMID:25628142|PMID:2563431|PMID:2567219|PMID:25708597|PMID:25741868|PMID:25741908|PMID:25824987|PMID:25854144|PMID:25948085|PMID:26308136|PMID:26383047|PMID:26879396|PMID:26897466|PMID:27292088|PMID:27868395|PMID:27943580|PMID:28252515|PMID:2831458|PMID:2833855|PMID:2835307|PMID:28492532|PMID:2861360|PMID:2887317|PMID:2901224|PMID:2907841|PMID:29296726|PMID:2986011|PMID:2987704|PMID:2993888|PMID:3035554|PMID:30534853|PMID:30913330|PMID:3097553|PMID:31064749|PMID:3122181|PMID:3131627|PMID:3137981|PMID:32166871|PMID:32581362|PMID:34355501|PMID:6253938|PMID:6438527|PMID:7579394|PMID:7662970|PMID:7728145|PMID:7794769|PMID:7959679|PMID:7984443|PMID:8011517|PMID:8052958|PMID:8054459|PMID:8069313|PMID:8281136|PMID:8307558|PMID:8322269|PMID:8449505|PMID:8485051|PMID:8490618|PMID:8497853|PMID:8547094|PMID:8576960|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9184393|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9594277|PMID:9792405|PMID:9829908|PMID:9886318 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD 727845 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:1343567 D RGD:10450757|PMID:10468616 20160120 RGD 727845 F8 coagulation factor VIII gene DOID:12259 hemophilia B ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10338101|PMID:10404764|PMID:10519986|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11843836|PMID:11857744|PMID:12139751|PMID:12204009|PMID:12871415|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:15569173|PMID:15625837|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17222201|PMID:17445092|PMID:17610549|PMID:18034822|PMID:18387975|PMID:18403393|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19548904|PMID:19719828|PMID:1979502|PMID:20102490|PMID:20193250|PMID:20300295|PMID:20331753|PMID:20533009|PMID:20800587|PMID:2104741|PMID:2106480|PMID:21070499|PMID:21371196|PMID:21751985|PMID:21838755|PMID:21883705|PMID:23625609|PMID:23812942|PMID:23926300|PMID:2493803|PMID:2498882|PMID:2506948|PMID:25741868|PMID:25824987|PMID:25854144|PMID:27943580|PMID:2833855|PMID:29296726|PMID:2987704|PMID:31064749|PMID:32166871|PMID:34355501|PMID:6438527|PMID:7728145|PMID:7794769|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8490618|PMID:8547094|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9829908|PMID:9886318 727845 F8 coagulation factor VIII gene DOID:1247 blood coagulation disease ISO RGD:1343567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:1301932|PMID:25741868|PMID:31064749|PMID:8485051 727845 F8 coagulation factor VIII gene DOID:12849 autistic disorder ISO RGD:1343567 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727845 F8 coagulation factor VIII gene DOID:13628 favism ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 727845 F8 coagulation factor VIII gene DOID:1969 cerebral palsy ISO RGD:1343567 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 727845 F8 coagulation factor VIII gene DOID:2213 hemorrhagic disease ISO RGD:1343567 D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 727845 F8 coagulation factor VIII gene DOID:2452 thrombophilia ISO RGD:1343567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 727845 F8 coagulation factor VIII gene DOID:2729 dyskeratosis congenita ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 727845 F8 coagulation factor VIII gene DOID:417 autoimmune disease ISO RGD:1343567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11886462 727845 F8 coagulation factor VIII gene DOID:607 paraplegia ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727845 F8 coagulation factor VIII gene DOID:630 genetic disease ISO RGD:1343567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691168|PMID:19473423|PMID:21371196|PMID:25741868|PMID:25824987|PMID:28492532|PMID:29296726|PMID:31064749|PMID:32166871|PMID:9886318 727845 F8 coagulation factor VIII gene DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD 727845 F8 coagulation factor VIII gene DOID:9001708 Hemorrhagic Shock IEP D RGD:10450768|PMID:15748447 20160121 RGD protein:decreased expression:plasma 727845 F8 coagulation factor VIII gene DOID:9002720 Splenomegaly ISO RGD:1343567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 727845 F8 coagulation factor VIII gene DOID:9003121 Thromboembolism ISO RGD:1343567 D RGD:1582359|PMID:15634269 20061106 RGD 727845 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:7240710 20220316 OMIM 727845 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT PMID:11442643|PMID:1301932|PMID:1412186|PMID:17498081|PMID:18479430|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19369668|PMID:19473423|PMID:19548904|PMID:19719548|PMID:20028422|PMID:20102490|PMID:20301578|PMID:2121641|PMID:21645226|PMID:22958177|PMID:23625609|PMID:23711237|PMID:23913812|PMID:23961341|PMID:24033266|PMID:24108539|PMID:24134483|PMID:25326637|PMID:25628142|PMID:25708597|PMID:25741868|PMID:25824987|PMID:25854144|PMID:27292088|PMID:27868395|PMID:27943580|PMID:28252515|PMID:28492532|PMID:29296726|PMID:29357978|PMID:30913330|PMID:31064749|PMID:32166871|PMID:6438527|PMID:7579394|PMID:7728145|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8639447|PMID:9829908|PMID:9886318 727845 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16875063 727845 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:1582359|PMID:15634269 20061106 RGD 727845 F8 coagulation factor VIII gene DOID:9004755 Hemophilic Arthropathy treatment IMP D RGD:150520059|PMID:27060449 20211026 RGD 727845 F8 coagulation factor VIII gene DOID:9005930 Endotoxemia IEP D RGD:7394782|PMID:11092686 20160121 RGD 727845 F8 coagulation factor VIII gene DOID:9006035 Factor VIII Deficiency, Acquired ISO RGD:1343567 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:11886462 727845 F8 coagulation factor VIII gene DOID:9007096 Stroke ISO RGD:1343567 D RGD:1582360|PMID:15202164 20061106 RGD 727845 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage ISO RGD:1343567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:6438527|PMID:7728145 727845 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage treatment ISO RGD:1343567 D RGD:11530071|PMID:24931420 20160825 RGD 727845 F8 coagulation factor VIII gene DOID:9279 hyperhomocysteinemia IDA D RGD:1601105|PMID:16046705 20160121 RGD 727845 F8 coagulation factor VIII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343567 D RGD:2312416|PMID:7974333 20090811 RGD protein:increased activity:plasma (human) 727847 Hivep1 HIVEP zinc finger 1 gene DOID:1826 epilepsy ISO RGD:736425 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 727847 Hivep1 HIVEP zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 727847 Hivep1 HIVEP zinc finger 1 gene DOID:630 genetic disease ISO RGD:736425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:0050012 chikungunya ISO RGD:1619156 D RGD:14398493|PMID:25053563 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346555 D RGD:14398491|PMID:24706327 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:0060108 brain glioma ISO RGD:1619156 D RGD:14398497|PMID:21565182 20190423 RGD mRNA,protein:increased expression:brain: 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1346555 D RGD:14398496|PMID:26832883 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1346555 D RGD:14398821|PMID:30249485 20190501 RGD mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer ISO RGD:1346555 D RGD:14398498|PMID:22729361 20190423 RGD protein:increased expression:endometrium: 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer treatment ISO RGD:1346555 D RGD:14398492|PMID:26498112 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:1380 endometrial cancer treatment ISO RGD:1346555 D RGD:14398498|PMID:22729361 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1346555 D RGD:14398497|PMID:21565182 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1346555 D RGD:14398496|PMID:26832883 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346555 D RGD:8554872 20180918 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:630 genetic disease ISO RGD:1346555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346555 D RGD:14398494|PMID:26885809 20190423 RGD DNA:SNPs: : 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1619156 D RGD:14398495|PMID:23806386 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1619156 D RGD:14398495|PMID:23806386 20190423 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections ISO RGD:1619156 D RGD:14398761|PMID:24872193 20190430 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections ISO RGD:1619156 D RGD:14398822|PMID:22284121 20190501 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:9006644 Retroviridae Infections disease_progression ISO RGD:1346555 D RGD:14398820|PMID:28381565 20190501 RGD 727849 Bst2 bone marrow stromal cell antigen 2 gene DOID:9008707 Viremia ISO RGD:1346555 D RGD:14398820|PMID:28381565 20190501 RGD associated with Retroviridae Infections; 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ISO RGD:1352127 D RGD:7240710 20140903 OMIM 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia PMID:22335740|PMID:24033266|PMID:25741868|PMID:28492532 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1352127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:10591 pre-eclampsia ISO RGD:1352127 D RGD:2292128|PMID:16952198 20080410 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:11054 urinary bladder cancer ISO RGD:1352127 D RGD:2292136|PMID:12547718 20080410 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:12849 autistic disorder ISO RGD:1352127 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:1540 parathyroid carcinoma ISO RGD:1352127 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:1923 disorder of sexual development ISO RGD:1352127 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:2671 transitional cell carcinoma ISO RGD:1352127 D RGD:2292127|PMID:17164231 20080410 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1352127 D RGD:2302170|PMID:15949424 20081124 RGD mRNA:decreased expression:endometrium 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1352127 D RGD:2289400|PMID:15592684 20080410 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1352127 D RGD:2302169|PMID:18005407 20081124 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:4085 trophoblastic neoplasm ISO RGD:1352127 D RGD:2292132|PMID:16757546 20080410 RGD Gestational Trophoblastic Neoplasms, MeSH:D031901 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352127 D RGD:11554173 20200407 CTD CTD Direct Evidence: therapeutic PMID:21383688 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:630 genetic disease ISO RGD:1352127 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352127 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:21383688 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9000217 Stomach Neoplasms ISO RGD:1352127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352127 D RGD:2298668|PMID:16283480 20081124 RGD associated with Ovarian Neoplasms 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9001239 Delayed Puberty ISO RGD:1352127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1352127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352127 D RGD:2292135|PMID:16320113 20080410 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9008939 Breast Neoplasms severity ISO RGD:1352127 D RGD:2292123|PMID:17914099 20080410 RGD 727850 Kiss1 KiSS-1 metastasis-suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352127 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727851 Acbd3 acyl-CoA binding domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348505 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727851 Acbd3 acyl-CoA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1348505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727851 Acbd3 acyl-CoA binding domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348505 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727852 Tmem184c transmembrane protein 184C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1349593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 727852 Tmem184c transmembrane protein 184C gene DOID:630 genetic disease ISO RGD:1349593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727852 Tmem184c transmembrane protein 184C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 727853 Tas2r126 taste receptor, type 2, member 126 gene DOID:630 genetic disease ISO RGD:1353850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727856 Srpk3 SRSF protein kinase 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727856 Srpk3 SRSF protein kinase 3 gene DOID:0050476 Barth syndrome ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727856 Srpk3 SRSF protein kinase 3 gene DOID:0050800 creatine transporter deficiency ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 727856 Srpk3 SRSF protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 727856 Srpk3 SRSF protein kinase 3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1349288 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 727856 Srpk3 SRSF protein kinase 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 727856 Srpk3 SRSF protein kinase 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349288 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 727856 Srpk3 SRSF protein kinase 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727856 Srpk3 SRSF protein kinase 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727856 Srpk3 SRSF protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1349288 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727856 Srpk3 SRSF protein kinase 3 gene DOID:13628 favism ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 727856 Srpk3 SRSF protein kinase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 727856 Srpk3 SRSF protein kinase 3 gene DOID:607 paraplegia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 727856 Srpk3 SRSF protein kinase 3 gene DOID:630 genetic disease ISO RGD:1349288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727856 Srpk3 SRSF protein kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1349288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 727857 Np4 defensin NP-4 precursor gene DOID:630 genetic disease ISO RGD:1353794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727858 Npw neuropeptide W gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 727858 Npw neuropeptide W gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 727858 Npw neuropeptide W gene DOID:1826 epilepsy ISO RGD:1605830 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 727858 Npw neuropeptide W gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605830 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 727858 Npw neuropeptide W gene DOID:630 genetic disease ISO RGD:1605830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727859 Rhcg Rh family, C glycoprotein gene DOID:0050758 metabolic acidosis IEP D RGD:8554685|PMID:16144966 20150331 RGD protein:increased expression:medulla, kidney collecting duct intercalated cell 727859 Rhcg Rh family, C glycoprotein gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1345053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 727859 Rhcg Rh family, C glycoprotein gene DOID:1074 kidney failure IEP D RGD:9850158|PMID:17652373 20150331 RGD protein:altered localization 727859 Rhcg Rh family, C glycoprotein gene DOID:2717 Bloom syndrome ISO RGD:1345053 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 727859 Rhcg Rh family, C glycoprotein gene DOID:4500 hypokalemia IEP D RGD:9850155|PMID:21753075 20150331 RGD protein:increased expression:outer medulla of kidney 727859 Rhcg Rh family, C glycoprotein gene DOID:630 genetic disease ISO RGD:1345053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727859 Rhcg Rh family, C glycoprotein gene DOID:9005658 Hypoaldosteronism treatment IEP D RGD:9850160|PMID:21415155 20150331 RGD 727859 Rhcg Rh family, C glycoprotein gene DOID:9256 colorectal cancer ISO RGD:1345053 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 727860 Asb15 ankyrin repeat and SOCS box containing 15 gene DOID:4450 renal cell carcinoma ISO RGD:1346506 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 727860 Asb15 ankyrin repeat and SOCS box containing 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346506 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727860 Asb15 ankyrin repeat and SOCS box containing 15 gene DOID:630 genetic disease ISO RGD:1346506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727861 Taf9 TATA-box binding protein associated factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1314621 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 727861 Taf9 TATA-box binding protein associated factor 9 gene DOID:630 genetic disease ISO RGD:1314621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727861 Taf9 TATA-box binding protein associated factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314621 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727862 Ift81 intraflagellar transport 81 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 727862 Ift81 intraflagellar transport 81 gene DOID:0060340 ciliopathy ISO RGD:1606304 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:26275418|PMID:28492532 727862 Ift81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:7240710 20190315 OMIM 727862 Ift81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 727862 Ift81 intraflagellar transport 81 gene DOID:630 genetic disease ISO RGD:1606304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727862 Ift81 intraflagellar transport 81 gene DOID:9007661 Dwarfism ISO RGD:1606304 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 727863 Per1 period circadian regulator 1 gene DOID:0060001 withdrawal disorder ISO RGD:1349050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 727863 Per1 period circadian regulator 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 727863 Per1 period circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISS RGD:1552867 D RGD:13592920 20180518 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 727863 Per1 period circadian regulator 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349050 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 727863 Per1 period circadian regulator 1 gene DOID:12849 autistic disorder ISO RGD:1349050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 727863 Per1 period circadian regulator 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 727863 Per1 period circadian regulator 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 727863 Per1 period circadian regulator 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 727863 Per1 period circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1349050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727863 Per1 period circadian regulator 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 727863 Per1 period circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349050 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 727864 Hrc histidine rich calcium binding protein gene DOID:0050451 Brugada syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 727864 Hrc histidine rich calcium binding protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1343095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 727864 Hrc histidine rich calcium binding protein gene DOID:0111073 progressive familial heart block ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 727864 Hrc histidine rich calcium binding protein gene DOID:0111074 progressive familial heart block type IA ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 727864 Hrc histidine rich calcium binding protein gene DOID:0111076 progressive familial heart block type IB ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 727864 Hrc histidine rich calcium binding protein gene DOID:630 genetic disease ISO RGD:1343095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727864 Hrc histidine rich calcium binding protein gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 727864 Hrc histidine rich calcium binding protein gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1550883 D RGD:9685495|PMID:22952658 20150113 RGD associated with Heart Failure 727864 Hrc histidine rich calcium binding protein gene DOID:9003936 Cardiomegaly ISO RGD:1343095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 727864 Hrc histidine rich calcium binding protein gene DOID:9007633 Body Weight ISO RGD:1343095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 727864 Hrc histidine rich calcium binding protein gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 727866 Iah1 isoamyl acetate hydrolyzing esterase 1 gene DOID:630 genetic disease ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727866 Iah1 isoamyl acetate hydrolyzing esterase 1 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:9536098 727867 Il18rap interleukin 18 receptor accessory protein gene DOID:0050589 inflammatory bowel disease ISO RGD:1315691 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 727867 Il18rap interleukin 18 receptor accessory protein gene DOID:0080685 aortic dissection ISO RGD:1315691 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 727867 Il18rap interleukin 18 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1315691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727867 Il18rap interleukin 18 receptor accessory protein gene DOID:8577 ulcerative colitis ISO RGD:1315691 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 727867 Il18rap interleukin 18 receptor accessory protein gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315691 D RGD:5024946|PMID:18774397 20110802 RGD DNA:SNP: :rs1420106 (human) 727867 Il18rap interleukin 18 receptor accessory protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315692 D RGD:4889578|PMID:19164288 20110802 RGD 727868 Nsmaf neutral sphingomyelinase activation associated factor gene DOID:630 genetic disease ISO RGD:1352100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727869 Opn5 opsin 5 gene DOID:630 genetic disease ISO RGD:737573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727870 Prss21 serine protease 21 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 727870 Prss21 serine protease 21 gene DOID:1826 epilepsy ISO RGD:1344108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 727870 Prss21 serine protease 21 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 727870 Prss21 serine protease 21 gene DOID:630 genetic disease ISO RGD:1344108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727871 Gsdme gasdermin E gene DOID:0050563 nonsyndromic deafness ISO RGD:1349553 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15173223|PMID:17427029|PMID:24033266|PMID:28492532|PMID:30311386|PMID:7427029 727871 Gsdme gasdermin E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 727871 Gsdme gasdermin E gene DOID:0080773 delta beta-thalassemia ISO RGD:1349553 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin PMID:25741868 727871 Gsdme gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:7240710 20130221 OMIM 727871 Gsdme gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 5 PMID:14676472|PMID:15173223|PMID:17576681|PMID:17868390|PMID:24033266|PMID:24164807|PMID:25741868|PMID:28492532|PMID:29266521|PMID:29849037|PMID:30311386|PMID:34906502|PMID:9536098|PMID:9771715 727871 Gsdme gasdermin E gene DOID:10003 sensorineural hearing loss ISO RGD:1349553 D RGD:1599770|PMID:9771715 20070214 RGD DNA:deletion:intron 727871 Gsdme gasdermin E gene DOID:10003 sensorineural hearing loss ISO RGD:1349553 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 727871 Gsdme gasdermin E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349553 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727871 Gsdme gasdermin E gene DOID:630 genetic disease ISO RGD:1349553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 727871 Gsdme gasdermin E gene DOID:7148 rheumatoid arthritis ISO RGD:1349553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 727871 Gsdme gasdermin E gene DOID:9004538 Hearing Loss ISO RGD:1349553 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21782914 727871 Gsdme gasdermin E gene DOID:9004538 Hearing Loss ISO RGD:1349553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:28492532|PMID:30311386 727872 Synm synemin gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1354169 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 727872 Synm synemin gene DOID:630 genetic disease ISO RGD:1354169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727873 Gpr151 G protein-coupled receptor 151 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 727873 Gpr151 G protein-coupled receptor 151 gene DOID:4990 essential tremor ISO RGD:1350857 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:28492532|PMID:33279834 727873 Gpr151 G protein-coupled receptor 151 gene DOID:630 genetic disease ISO RGD:1350857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727873 Gpr151 G protein-coupled receptor 151 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350857 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727873 Gpr151 G protein-coupled receptor 151 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 727874 Rtkn rhotekin gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1354382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 727874 Rtkn rhotekin gene DOID:543 dystonia ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 727874 Rtkn rhotekin gene DOID:630 genetic disease ISO RGD:1354382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727874 Rtkn rhotekin gene DOID:684 hepatocellular carcinoma ISO RGD:1354382 D RGD:19165144|PMID:27922690 20200204 RGD mRNA:increased expression:liver 727874 Rtkn rhotekin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:0050590 severe congenital neutropenia ISO RGD:735418 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:735418 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:0080600 COVID-19 ISO RGD:735418 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:7240710 20140212 OMIM 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency PMID:16199547|PMID:17576681|PMID:19011569|PMID:19118303|PMID:19775295|PMID:20616219|PMID:20717171|PMID:20799326|PMID:21285905|PMID:21385794|PMID:22050868|PMID:22469094|PMID:23171239|PMID:23180359|PMID:23298686|PMID:23441086|PMID:23758768|PMID:24033266|PMID:24549407|PMID:24750412|PMID:25284454|PMID:25326635|PMID:25391451|PMID:25491320|PMID:25492228|PMID:25741868|PMID:27571123|PMID:27577878|PMID:27611587|PMID:28492532|PMID:31564432|PMID:9536098 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:612 primary immunodeficiency disease ISO RGD:735418 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 727875 G6pc3 glucose 6 phosphatase catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727878 Ston1 stonin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602494 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 727878 Ston1 stonin 1 gene DOID:2661 myoepithelioma ISO RGD:1602494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 727878 Ston1 stonin 1 gene DOID:630 genetic disease ISO RGD:1602494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727879 Gldn gliomedin gene DOID:0080600 COVID-19 ISO RGD:1344164 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727879 Gldn gliomedin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344164 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 727879 Gldn gliomedin gene DOID:2717 Bloom syndrome ISO RGD:1344164 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 727879 Gldn gliomedin gene DOID:607 paraplegia ISO RGD:1344164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 727879 Gldn gliomedin gene DOID:630 genetic disease ISO RGD:1344164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 727879 Gldn gliomedin gene DOID:8488 polyhydramnios ISO RGD:1344164 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680349 727879 Gldn gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:7240710 20190315 OMIM 727879 Gldn gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680123|PMID:31680349|PMID:32860008 727879 Gldn gliomedin gene DOID:9006836 Contracture ISO RGD:1344164 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:28726266 727879 Gldn gliomedin gene DOID:9256 colorectal cancer ISO RGD:1344164 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0050553 JMP syndrome ISO RGD:1353948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1353948 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:11372 megacolon ISO RGD:1353948 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria ISO RGD:1353948 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria ISO RGD:1353948 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to PMID:17208487 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria susceptibility ISO RGD:1353948 D RGD:7240710 20190502 OMIM 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353948 D RGD:40400745|PMID:17553896 20201109 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:630 genetic disease ISO RGD:1353948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353948 D RGD:40818276|PMID:27382604 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:40818079|PMID:20550548 20201110 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:40818297|PMID:23813131 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353948 D RGD:40400738|PMID:21168454 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353948 D RGD:40818295|PMID:21695691 20201117 RGD 727881 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353948 D RGD:40818296|PMID:16322112 20201117 RGD 727882 Pno1 partner of NOB1 homolog gene DOID:630 genetic disease ISO RGD:1604334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727883 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:7240710 20210324 OMIM 727883 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 23 PMID:31472902 727883 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349040 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727883 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1349040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727883 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349040 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727884 Stk40 serine/threonine kinase 40 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605028 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 727884 Stk40 serine/threonine kinase 40 gene DOID:630 genetic disease ISO RGD:1605028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727885 Zscan26 zinc finger and SCAN domain containing 26 gene DOID:11372 megacolon ISO RGD:1345585 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 727885 Zscan26 zinc finger and SCAN domain containing 26 gene DOID:630 genetic disease ISO RGD:1345585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736494 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (human) PMID:12457455|REF_RGD_ID:4891170 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736494 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:0080626 corticosterone methyloxidase deficiency 1 ISO RGD:736494 D RGD:7240710 20150930 OMIM 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:0080626 corticosterone methyloxidase deficiency 1 ISO RGD:736494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyl oxidase type II deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY PMID:10965212|PMID:11174838|PMID:11196457|PMID:11238478|PMID:11549691|PMID:12788848|PMID:1346492|PMID:14250395|PMID:15240589|PMID:1594605|PMID:16118341|PMID:16199547|PMID:16733366|PMID:17576681|PMID:18710464|PMID:2044581|PMID:20494601|PMID:20639134|PMID:21237269|PMID:22465514|PMID:22565077|PMID:22801770|PMID:22931312|PMID:23062999|PMID:24033266|PMID:25102047|PMID:25741868|PMID:25968592|PMID:26936515|PMID:26956189|PMID:28492532|PMID:29201470|PMID:30864636|PMID:33098647|PMID:7485152|PMID:7792802|PMID:8530633|PMID:8954040|PMID:9177280|PMID:9360501|PMID:9536098|PMID:9625333|PMID:9703385|PMID:9814506 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:736494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:0110429 dilated cardiomyopathy 1H treatment ISO RGD:736494 D RGD:1576426|PMID:12031704 20180201 RGD DNA:SNP:promoter:-344C>T (human) 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:10591 pre-eclampsia ISO RGD:736494 D RGD:9068941 20220825 RGD DNA:missense mutation:cds:p.V386A (human) PMID:15569322|REF_RGD_ID:1576428 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:10763 hypertension ISO RGD:736494 D RGD:8554872 20151006 ClinVar ClinVar Annotator: match by term: Aldosterone to renin ratio, increased PMID:12213905|PMID:12788845|PMID:17003099 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:736494 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:1472060|PMID:1731223 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:14080 glucocorticoid-remediable aldosteronism ISO RGD:736494 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism PMID:10965212|PMID:11174838|PMID:11549691|PMID:1594605|PMID:16118341|PMID:18710464|PMID:22465514|PMID:22931312|PMID:24033266|PMID:25102047|PMID:25741868|PMID:28492532|PMID:33098647|PMID:8530633|PMID:8954040|PMID:9703385|PMID:9814506 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:446 primary hyperaldosteronism ISO RGD:736494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11085685 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:4621 holoprosencephaly ISO RGD:736494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:630 genetic disease ISO RGD:736494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736494 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human) PMID:16672053|REF_RGD_ID:2307295 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-344C>T (human) PMID:9494027|REF_RGD_ID:4891150 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9004616 Left Ventricular Hypertrophy no_association ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-344C>T (human) PMID:11275936|REF_RGD_ID:4891151 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9005658 Hypoaldosteronism ISO RGD:736494 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11238478 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736494 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-344C>T (human) PMID:17261471|REF_RGD_ID:2307294 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9007096 Stroke ISO RGD:736494 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism PMID:15894891|REF_RGD_ID:2307308 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9351 diabetes mellitus ISO RGD:736494 D RGD:2307297|PMID:11687612 20180201 RGD DNA:polymorphisms:5' utr, cds:-344C>T, p.K173R (human) 727886 Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736494 D RGD:9068941 20220825 RGD DNA:polymorphism:promoter:-344C>T (human) PMID:18771471|REF_RGD_ID:2307288 727887 Corin corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 727887 Corin corin, serine peptidase gene DOID:10591 pre-eclampsia ISO RGD:1343750 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism 727887 Corin corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:1581219|PMID:16216958 19990101 RGD 727887 Corin corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:1626338|PMID:17485366 20070802 RGD 727887 Corin corin, serine peptidase gene DOID:6000 congestive heart failure IEP D RGD:1581217|PMID:15191894 19990101 RGD mRNA:increased expression:heart (rat) 727887 Corin corin, serine peptidase gene DOID:6000 congestive heart failure IEP D RGD:1581218|PMID:15155264 19990101 RGD mRNA:decreased expression:left atrium, right atrium (rat) 727887 Corin corin, serine peptidase gene DOID:630 genetic disease ISO RGD:1343750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727887 Corin corin, serine peptidase gene DOID:9003936 Cardiomegaly IEP D RGD:1581217|PMID:15191894 19990101 RGD mRNA:increased expression:heart (rat) 727887 Corin corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:1343750 D RGD:1626338|PMID:17485366 20070802 RGD 727887 Corin corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:7240710 20140911 OMIM 727887 Corin corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 PMID:22437503|PMID:24828501|PMID:25741868|PMID:28492532 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1352761 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:17261581 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0050848 obstructive sleep apnea ISO RGD:1352761 D RGD:2298862|PMID:17013605 20080729 RGD protein:increased expression:monocyte 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1352761 D RGD:153344573|PMID:34111459 20220826 RGD protein:increased expression:mouth (human) 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060058 lymphoma ISO RGD:1352761 D RGD:2298891|PMID:9047386 20080731 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352761 D RGD:2298754|PMID:17375183 20080722 RGD DNA:amplification 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis IEP D RGD:2298776|PMID:18623154 20080723 RGD protein:increased expression:nucleus 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060322 mastoiditis ISO RGD:1352761 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0080855 Parkinsonism IMP D RGD:2302392|PMID:18534259 20081216 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2298789|PMID:18241655 20080723 RGD protein:increased expression:pancreas 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0081292 traumatic brain injury ISO RGD:1352761 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:25668593|PMID:28642177 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1059 intellectual disability ISO RGD:1352761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10754 otitis media ISO RGD:1352761 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension IEP D RGD:2298761|PMID:16840655 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:1352761 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19018797|PMID:27659729|PMID:32147540 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352761 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer ISO RGD:1551095 D RGD:2293094|PMID:18089718 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352761 D RGD:2298753|PMID:18188593 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11132 prostatic hypertrophy ISO RGD:1352761 D RGD:11566048|PMID:25546515 20161130 RGD protein:increased expression:prostate gland 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11383 cryptorchidism ISO RGD:1551095 D RGD:11567213|PMID:22777528 20161201 RGD protein:increased expression:testis 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11713 diabetic angiopathy ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:12236 primary biliary cholangitis ISO RGD:1352761 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:13141 uveitis IEP D RGD:2298858|PMID:18087711 20080729 RGD protein:increased expression:uvea 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:13580 cholestasis ISO RGD:1352761 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:1352761 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1591 renovascular hypertension IEP D RGD:2298840|PMID:18032469 20080728 RGD protein:increased expression:nucleus, kidney 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1679 cystitis ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22099998 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1793 pancreatic cancer ISO RGD:1352761 D RGD:2298892|PMID:9918209 20080731 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1824 status epilepticus IDA D RGD:2298852|PMID:17727632 20080728 RGD protein:increased expression:nucleus, hippocampus 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1826 epilepsy treatment IEP D RGD:13524859|PMID:28303499 20180501 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2316 brain ischemia ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:18628779 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2349 arteriosclerosis IEP D RGD:2298774|PMID:18637019 20080729 RGD protein:increased expression:aorta 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1352761 D RGD:13506768|PMID:15073126 20180212 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1551095 D RGD:2298768|PMID:15712212 20080722 RGD protein:increased expression:prostate gland 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2746 glycogen storage disease V ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1352761 D RGD:150429781|PMID:19513509 20210928 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352761 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:299 adenocarcinoma ISO RGD:1352761 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3070 high grade glioma ISO RGD:1352761 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1551095 D RGD:155663371|PMID:34331613 20221114 RGD mRNA, protein:increased expression:lung (mouse) 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352761 D RGD:2298765|PMID:16287968 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18089796 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:2298755|PMID:17290398 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:2298771|PMID:12663495 20080723 RGD protein:increased expression:kidney 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1352761 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:1352761 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1352761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:6432 pulmonary hypertension IEP D RGD:2298843|PMID:17934115 20080728 RGD protein:altered localization:nucleus, blood vessel endothelial cell, lung 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:670 amphetamine abuse ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:769 neuroblastoma ISO RGD:1352761 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease IEP D RGD:2298859|PMID:18077597 20080729 RGD protein:increased expression:kidney 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8577 ulcerative colitis ISO RGD:1352761 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:15955209 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1352761 D RGD:2298767|PMID:16278667 20080722 RGD protein:increased expression:prostate gland 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1551095 D RGD:2298769|PMID:15570007 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8778 Crohn's disease ISO RGD:1352761 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1352761 D RGD:2298759|PMID:16850495 20080722 RGD protein:altered localization, increased expression:nucleus, uterine cervix 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000039 Spinal Cord Injuries IMP D RGD:2298849|PMID:17918744 20080728 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352761 D RGD:2298757|PMID:17020979 20080722 RGD associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000099 Experimental Colitis treatment IEP D RGD:152995414|PMID:29572553 20220620 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000113 Pneumococcal Meningitis IEP D RGD:9831197|PMID:25443778 20150303 RGD protein:increased expression:brain, nucleus 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1352761 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352761 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000918 Disease Progression ISO RGD:1352761 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34626302|PMID:34973135 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000998 Brain Injuries IEP D RGD:2298787|PMID:18288455 20080723 RGD protein:increased expression:ileum 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Chronic Mucocutaneous Ulceration ISO RGD:1352761 D RGD:7240710 20190717 OMIM 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Chronic Mucocutaneous Ulceration ISO RGD:1352761 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic PMID:25741868|PMID:28492532|PMID:28600438|PMID:29758562|PMID:32969189|PMID:35412596 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2298781|PMID:18469645 20080723 RGD protein:increased phosphorylation:nucleus, liver 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock IEP D RGD:2298842|PMID:17950078 20080728 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352761 D RGD:2298841|PMID:17950083 20080728 RGD protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17900838 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002170 Experimental Neoplasms ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352761 D RGD:2298767|PMID:16278667 20080722 RGD protein:altered localization, increased expression:nucleus, prostate gland 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage IDA D RGD:2302394|PMID:17250675 20081216 RGD protein:increased activity:striatum 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352761 D RGD:2298752|PMID:18314621 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:2298756|PMID:17098279 20080722 RGD protein:increased expression:uterine cervix 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:2298759|PMID:16850495 20080722 RGD protein:altered localization, increased expression:nucleus, uterine cervix 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly IDA D RGD:1580656|PMID:15728586 20150323 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly treatment IDA D RGD:1581122|PMID:15749748 20150323 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury IEP D RGD:2298777|PMID:18621400 20080723 RGD protein:increased expression:nucleus, liver 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20302854|PMID:23743330 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004250 Hepatic Insufficiency ISO RGD:1352761 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment IEP D RGD:35316072|PMID:31828147 20200708 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23069812 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004484 Sepsis IEP D RGD:2298853|PMID:17626913 20080728 RGD protein:increased expression:nucleus, lung 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352761 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:19896475|PMID:29501572 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:2298779|PMID:18543397 20080723 RGD associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551095 D RGD:2298764|PMID:16288051 20080722 RGD protein:decreased expression:peritoneal macrophage 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005236 Drug Eruptions ISO RGD:1352761 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005369 Hepatomegaly ISO RGD:1352761 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2298775|PMID:18633731 20080723 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2298780|PMID:18500427 20080723 RGD protein:increased expression:nucleus, skeletal muscle, liver 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352761 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-Onset Schizophrenia PMID:26508570 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007502 Brain Neoplasms ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352761 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:23069812|PMID:29501572 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance IEP D RGD:2298860|PMID:18073321 20080729 RGD protein:altered localization:soleus 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:1551095 D RGD:2298857|PMID:18198644 20080729 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:2298773|PMID:18636044 20080723 RGD protein:altered localization:nucleus 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:155230831|PMID:31583047 20220923 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008394 Drug-Induced Dyskinesia IEP D RGD:2298778|PMID:18590723 20080723 RGD protein:increased expression:nucleus, brain 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20154269 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:2298762|PMID:16728586 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:2298763|PMID:16322341 20080722 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9206 Barrett's esophagus ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352761 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9452 fatty liver disease IDA D RGD:5135028|PMID:21643627 20120322 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9588 encephalitis IDA D RGD:5147676|PMID:16006567 20120322 RGD 727889 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9970 obesity ISO RGD:1352761 D RGD:2298856|PMID:18356846 20080729 RGD 727890 Mms19 MMS19 homolog, cytosolic iron-sulfur assembly component gene DOID:630 genetic disease ISO RGD:1354311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:735979 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735979 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:735979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:0112022 non-syndromic X-linked intellectual disability 21 ISO RGD:735979 D RGD:7240710 20131030 OMIM 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:0112022 non-syndromic X-linked intellectual disability 21 ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 PMID:10471494|PMID:16470793|PMID:18801879|PMID:19012350|PMID:21484992|PMID:25741868|PMID:28492532|PMID:8230164 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:1059 intellectual disability ISO RGD:735979 D RGD:1601578|PMID:16470793 20070425 RGD MeSH:D038901, Mental Retardation, X-Linked 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:1059 intellectual disability ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:12849 autistic disorder ISO RGD:735979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18801879|PMID:20437600 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:12849 autistic disorder ISO RGD:735979 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:1909 melanoma ISO RGD:735979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:5419 schizophrenia ISO RGD:735979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:630 genetic disease ISO RGD:735979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12783849|PMID:25741868|PMID:28492532 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735979 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735979 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18801879 727891 Il1rapl1 interleukin 1 receptor accessory protein-like 1 gene DOID:9008582 Developmental Disease ISO RGD:735979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:22634751 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:7240710 20130221 OMIM 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMAGe syndrome PMID:15769992|PMID:17576681|PMID:22634751|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25057881|PMID:25262539|PMID:25614875|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31976094|PMID:33076988|PMID:34098225|PMID:9536098 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0080365 endometrial hyperplasia ISO RGD:1322980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0080600 COVID-19 ISO RGD:1322980 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0080773 delta beta-thalassemia ISO RGD:1322980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:10591 pre-eclampsia ISS RGD:1322981 D RGD:13592920 20180518 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:1324 lung cancer IAGP D RGD:152998913|PMID:20512841 20220705 RGD DNA:hypermethylation:promoter (rat) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:1324 lung cancer disease_progression IEP D RGD:152998913|PMID:20512841 20220705 RGD protein:decreased expression:lung (rat) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322980 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:1909 melanoma ISO RGD:1322980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:2018 hyperinsulinism ISO RGD:1322980 D RGD:2311334|PMID:11723059 20090707 RGD DNA:loss of heterozygosity:pancreatic islet 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:299 adenocarcinoma ISO RGD:1322980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22634751 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:7240710 20130221 OMIM 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:630 genetic disease ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20503313|PMID:22634751|PMID:24098681|PMID:24313804|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:34098225|PMID:9536098 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:684 hepatocellular carcinoma severity ISO RGD:1322980 D RGD:11354707|PMID:26606000 20220705 RGD protein:decreased expression:liver (human) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9000970 Focal Nodular Hyperplasia IEP D RGD:152998958|PMID:3965145 20220708 RGD protein:increased expression:liver (rat) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:11354707|PMID:26606000 20220705 RGD protein:decreased expression:liver (rat) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:152998958|PMID:3965145 20220708 RGD protein:increased expression:liver (rat) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms disease_progression IEP D RGD:2315050|PMID:19533683 20220706 RGD mRNA:increased expression:liver (rat) 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9005172 Lung Neoplasms ISO RGD:1322980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20512841|PMID:21552421 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 727892 Cdkn1c cyclin-dependent kinase inhibitor 1C gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322980 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 727893 Akap13 A-kinase anchoring protein 13 gene DOID:2717 Bloom syndrome ISO RGD:736118 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 727893 Akap13 A-kinase anchoring protein 13 gene DOID:4450 renal cell carcinoma ISO RGD:736118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 727893 Akap13 A-kinase anchoring protein 13 gene DOID:630 genetic disease ISO RGD:736118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727893 Akap13 A-kinase anchoring protein 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736118 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 727893 Akap13 A-kinase anchoring protein 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736118 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 727893 Akap13 A-kinase anchoring protein 13 gene DOID:9256 colorectal cancer ISO RGD:736118 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 727894 Krt5 keratin 5 gene DOID:0060256 Dowling-Degos disease ISO RGD:1343872 D RGD:11554173 20221011 CTD CTD Direct Evidence: marker/mechanism 727894 Krt5 keratin 5 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISS RGD:1553117 D RGD:13592920 20211104 MouseDO OMIM:131760 727894 Krt5 keratin 5 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 727894 Krt5 keratin 5 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 727894 Krt5 keratin 5 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:7240710 20170412 OMIM 727894 Krt5 keratin 5 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation PMID:1049409|PMID:10494094|PMID:11167681|PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20301543|PMID:20923750|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26743602|PMID:27730678|PMID:28492532|PMID:28561874|PMID:31001817|PMID:421361|PMID:6457621|PMID:8799157|PMID:9036937|PMID:9129237 727894 Krt5 keratin 5 gene DOID:11054 urinary bladder cancer IEP D RGD:1600196|PMID:7507402 20070302 RGD 727894 Krt5 keratin 5 gene DOID:2513 basal cell carcinoma ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:19578363|PMID:20871598 727894 Krt5 keratin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1343872 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa PMID:25741868 727894 Krt5 keratin 5 gene DOID:305 carcinoma ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 727894 Krt5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1343872 D RGD:11554173 20190430 CTD CTD Direct Evidence: marker/mechanism 727894 Krt5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:1049409|PMID:10494094|PMID:11167681|PMID:11407988|PMID:11973334|PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16465624|PMID:16601668|PMID:16882168|PMID:17034543|PMID:17039244|PMID:1718160|PMID:17855059|PMID:18384561|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20199538|PMID:20301543|PMID:20923750|PMID:21144712|PMID:21375516|PMID:21623745|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26432462|PMID:26707537|PMID:26743602|PMID:27730678|PMID:28425111|PMID:28492532|PMID:28561874|PMID:31302245|PMID:31312705|PMID:421361|PMID:6457621|PMID:7682695|PMID:7686424|PMID:8595431|PMID:8799157|PMID:8807337|PMID:9036937|PMID:9129237 727894 Krt5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1343872 D RGD:1600195|PMID:1372711 20070302 RGD DNA:mutation 727894 Krt5 keratin 5 gene DOID:630 genetic disease ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 727894 Krt5 keratin 5 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 727894 Krt5 keratin 5 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 727894 Krt5 keratin 5 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:7240710 20211110 OMIM 727894 Krt5 keratin 5 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE PMID:16465624|PMID:20199538|PMID:25741868|PMID:31312705 727894 Krt5 keratin 5 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:7240710 20211110 OMIM 727894 Krt5 keratin 5 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of PMID:16098032|PMID:18384561|PMID:21144712|PMID:25741868|PMID:28425111|PMID:28492532|PMID:31302245|PMID:7520042|PMID:7537780|PMID:7688477|PMID:8807337 727894 Krt5 keratin 5 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10730767|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28561874|PMID:9036937 727894 Krt5 keratin 5 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1343872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20199538|PMID:20301543|PMID:22005030|PMID:25741868|PMID:26743602|PMID:28492532|PMID:28561874|PMID:7537780|PMID:7688477|PMID:9036937 727894 Krt5 keratin 5 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:7240710 20211110 OMIM 727894 Krt5 keratin 5 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe PMID:10234505|PMID:10383750|PMID:1372711|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28561874|PMID:8757772|PMID:9036937 727894 Krt5 keratin 5 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 727894 Krt5 keratin 5 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:7240710 20211110 OMIM 727894 Krt5 keratin 5 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate PMID:11407988|PMID:11407989|PMID:16882168|PMID:17039244|PMID:1718160|PMID:25741868|PMID:28492532|PMID:34680898|PMID:7534039|PMID:7686424|PMID:9740251 727894 Krt5 keratin 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 727894 Krt5 keratin 5 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:7240710 20221005 OMIM 727894 Krt5 keratin 5 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 1 PMID:14674915|PMID:16465624|PMID:20222933|PMID:25741868|PMID:3188604 727894 Krt5 keratin 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 727894 Krt5 keratin 5 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:7240710 20170412 OMIM 727894 Krt5 keratin 5 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:20055872|PMID:20301543|PMID:23889190|PMID:24104543|PMID:25741868|PMID:27730678|PMID:28492532|PMID:29180315|PMID:31965605|PMID:7520042|PMID:8807337|PMID:9036937 727894 Krt5 keratin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1343872 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 727895 Ldaf1 lipid droplet assembly factor 1 gene DOID:630 genetic disease ISO RGD:1601747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:25741868|PMID:28492532 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1317892 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:630 genetic disease ISO RGD:1317892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32730804 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SCAF4-associated Neurodevelopmental disorder PMID:25741868|PMID:32730804 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney 727896 Scaf4 SR-related CTD-associated factor 4 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317892 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32730804 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0050753 cerebellar ataxia ISO RGD:1346872 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0050777 Joubert syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:7240710 20170816 OMIM 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 PMID:10528257|PMID:25741868|PMID:25808372|PMID:26657514|PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0081097 Rafiq syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:1572 normal pressure hydrocephalus ISO RGD:1346872 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:10528257|PMID:25808372 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:3652 Leigh disease ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:630 genetic disease ISO RGD:1346872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25808372|PMID:26657514|PMID:27148589 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:9005249 Immunodeficiency 103 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 727897 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 727898 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 727898 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353219 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 727898 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 727898 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0112103 Sotos syndrome 1 ISO RGD:1353219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 727898 Col23a1 collagen type XXIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1353219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727898 Col23a1 collagen type XXIII alpha 1 chain gene DOID:9005539 Familial Prostate Cancer ISO RGD:1353219 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 727900 Ms4a14 membrane spanning 4-domains A14 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 727900 Ms4a14 membrane spanning 4-domains A14 gene DOID:1059 intellectual disability ISO RGD:1606761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727900 Ms4a14 membrane spanning 4-domains A14 gene DOID:4990 essential tremor ISO RGD:1606761 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 727900 Ms4a14 membrane spanning 4-domains A14 gene DOID:630 genetic disease ISO RGD:1606761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727901 Scgb3a1 secretoglobin, family 3A, member 1 gene DOID:289 endometriosis ISO RGD:1343531 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 727901 Scgb3a1 secretoglobin, family 3A, member 1 gene DOID:630 genetic disease ISO RGD:1343531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727903 Klre1 killer cell lectin-like receptor, family E, member 1 gene DOID:630 genetic disease ISO RGD:7380820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727905 Strada STE20 related adaptor alpha gene DOID:0050902 medulloblastoma ISO RGD:1606991 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 727905 Strada STE20 related adaptor alpha gene DOID:1826 epilepsy ISO RGD:1606991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:33605605 727905 Strada STE20 related adaptor alpha gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606991 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 727905 Strada STE20 related adaptor alpha gene DOID:630 genetic disease ISO RGD:1606991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727905 Strada STE20 related adaptor alpha gene DOID:9006920 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ISO RGD:1606991 D RGD:7240710 20130221 OMIM 727905 Strada STE20 related adaptor alpha gene DOID:9006920 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy ISO RGD:1606991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy PMID:16199547|PMID:17522105|PMID:17576681|PMID:20424326|PMID:25741868|PMID:27170158|PMID:28492532|PMID:29358611|PMID:33605605|PMID:9536098 727906 Gpr141 G protein-coupled receptor 141 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:736698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 727906 Gpr141 G protein-coupled receptor 141 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736698 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727907 Tenm2 teneurin transmembrane protein 2 gene DOID:10485 esophageal atresia ISO RGD:732274 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia 727907 Tenm2 teneurin transmembrane protein 2 gene DOID:303 substance-related disorder ISO RGD:732274 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 727907 Tenm2 teneurin transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:732274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727908 Tnni3k TNNI3 interacting kinase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1345235 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 PMID:25741868 727908 Tnni3k TNNI3 interacting kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 727908 Tnni3k TNNI3 interacting kinase gene DOID:630 genetic disease ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727908 Tnni3k TNNI3 interacting kinase gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:1345235 D RGD:7240710 20150617 OMIM 727908 Tnni3k TNNI3 interacting kinase gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:1345235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:24925317|PMID:25741868|PMID:25791106|PMID:28492532|PMID:29355681|PMID:30010057|PMID:31589606|PMID:34203974 727909 Spaca9 sperm acrosome associated 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 727909 Spaca9 sperm acrosome associated 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353846 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 727909 Spaca9 sperm acrosome associated 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 727909 Spaca9 sperm acrosome associated 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 727909 Spaca9 sperm acrosome associated 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353846 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 727909 Spaca9 sperm acrosome associated 9 gene DOID:3652 Leigh disease ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 727909 Spaca9 sperm acrosome associated 9 gene DOID:630 genetic disease ISO RGD:1353846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727911 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:1909 melanoma treatment ISO RGD:1553273 D RGD:14392781|PMID:26553931 20190227 RGD 727911 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736884 D RGD:13838842|PMID:15107827 20190118 RGD mRNA:increased expression:serosa of stomach (human) 727911 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:630 genetic disease ISO RGD:736884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727911 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553273 D RGD:14394499|PMID:28272394 20190322 RGD Liver Metastasis 727911 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1553273 D RGD:14392778|PMID:28119027 20190227 RGD 727911 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1553273 D RGD:14392781|PMID:26553931 20190227 RGD 727912 Sgms1 sphingomyelin synthase 1 gene DOID:11372 megacolon ISO RGD:1352309 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 727912 Sgms1 sphingomyelin synthase 1 gene DOID:11396 pulmonary edema IDA D RGD:1302423|PMID:12353928 20100921 RGD 727912 Sgms1 sphingomyelin synthase 1 gene DOID:11396 pulmonary edema IEP D RGD:1302423|PMID:12353928 20100921 RGD mRNA:increased expression:lung (rat) 727912 Sgms1 sphingomyelin synthase 1 gene DOID:11396 pulmonary edema IMP D RGD:1302423|PMID:12353928 20100921 RGD 727912 Sgms1 sphingomyelin synthase 1 gene DOID:630 genetic disease ISO RGD:1352309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727913 A3galt2 alpha 1,3-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606731 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 727914 Rab40c Rab40c, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 727914 Rab40c Rab40c, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349011 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 727914 Rab40c Rab40c, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1349011 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 727914 Rab40c Rab40c, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349011 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 727914 Rab40c Rab40c, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1349011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346613 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346613 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1346613 D RGD:15045601|PMID:28774887 20191218 RGD mRNA:increased expression:liver (human) 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:1059 intellectual disability ISO RGD:1346613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10775536|PMID:11181744|PMID:12933951|PMID:14741198|PMID:16157755|PMID:16278884|PMID:16816916|PMID:17697869|PMID:18227423|PMID:19092443|PMID:2019602|PMID:20402754|PMID:21073839|PMID:21645175|PMID:21955034|PMID:21958693|PMID:22878431|PMID:24002088|PMID:24033266|PMID:24584636|PMID:24746394|PMID:25447658|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26861945|PMID:26906304|PMID:28324197|PMID:28492532|PMID:28623566|PMID:29095540|PMID:29321515|PMID:32523054|PMID:8950197|PMID:9186905|PMID:9790667 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:13580 cholestasis ISO RGD:1346613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15795599 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:13619 extrahepatic cholestasis treatment IEP D RGD:14995480|PMID:29360226 20191213 RGD mRNA:decreased expression:liver (rat) 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:1936 atherosclerosis ISO RGD:1346613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11166758|PMID:19801147 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12117727|PMID:15795599|PMID:17444890|PMID:19801147 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:1600872|PMID:2019602 20070329 RGD OMIM:213700, R446C, R362C 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:7240710 20130221 OMIM 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10206677|PMID:10406988|PMID:10430841|PMID:10519880|PMID:10741487|PMID:10775536|PMID:11181744|PMID:11313766|PMID:11737215|PMID:11903362|PMID:12000359|PMID:12270007|PMID:12555943|PMID:12933951|PMID:14741198|PMID:14999499|PMID:15795599|PMID:16157755|PMID:16199547|PMID:16278884|PMID:16816916|PMID:17030721|PMID:17319284|PMID:17444890|PMID:17576681|PMID:17697869|PMID:18227423|PMID:18414213|PMID:19092443|PMID:19204079|PMID:19373932|PMID:2019602|PMID:20301583|PMID:20402754|PMID:20450308|PMID:20558929|PMID:20602799|PMID:20925952|PMID:20981092|PMID:21073839|PMID:21228398|PMID:21345536|PMID:21404287|PMID:21553098|PMID:21627786|PMID:21645175|PMID:21764626|PMID:21955034|PMID:21958693|PMID:21966169|PMID:22197981|PMID:22336472|PMID:22849591|PMID:22878431|PMID:23212406|PMID:23287330|PMID:23659550|PMID:24002088|PMID:24033266|PMID:24080357|PMID:24174808|PMID:24584636|PMID:24627108|PMID:24746394|PMID:25112387|PMID:25447658|PMID:25525159|PMID:25558065|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26467025|PMID:26519892|PMID:26622071|PMID:26643207|PMID:26861945|PMID:26906304|PMID:26937392|PMID:27084087|PMID:27142713|PMID:27225395|PMID:27455001|PMID:27535533|PMID:27678445|PMID:27680221|PMID:27858369|PMID:27878435|PMID:27879219|PMID:27884173|PMID:28324197|PMID:28337550|PMID:28492532|PMID:28590052|PMID:28623566|PMID:28749476|PMID:28894950|PMID:28937538|PMID:29095540|PMID:29242796|PMID:29269672|PMID:29321515|PMID:29434128|PMID:30366773|PMID:31450232|PMID:31743419|PMID:31796091|PMID:32523054|PMID:32581172|PMID:32714376|PMID:33313117|PMID:33400472|PMID:33414089|PMID:33624863|PMID:33830582|PMID:34012265|PMID:34145886|PMID:34930075|PMID:7697869|PMID:7860076|PMID:7915755|PMID:8006521|PMID:8014582|PMID:8309576|PMID:8514861|PMID:8730343|PMID:8827518|PMID:8931710|PMID:8950197|PMID:9008528|PMID:9186905|PMID:9254865|PMID:9392430|PMID:9521761|PMID:9536098|PMID:9548584|PMID:9654207|PMID:9790667 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:5082 liver cirrhosis ISO RGD:1346613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:543 dystonia ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions PMID:25558065|PMID:25741868|PMID:26643207|PMID:28492532 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1346613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10775536|PMID:12000359|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26643207|PMID:26937392|PMID:28492532|PMID:32581172|PMID:9392430 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346613 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727915 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 gene DOID:905 Zellweger syndrome ISO RGD:1550475 D RGD:13782195|PMID:14673138 20180828 RGD 727916 Rffl ring finger and FYVE-like domain containing E3 ubiquitin protein ligase gene DOID:10763 hypertension IEP D RGD:13442502|PMID:21357277 20171106 RGD mRNA,protein:increased expression:heart 727916 Rffl ring finger and FYVE-like domain containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1605590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727916 Rffl ring finger and FYVE-like domain containing E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605590 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727917 Thtpa thiamine triphosphatase gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 727917 Thtpa thiamine triphosphatase gene DOID:0081075 Marsili syndrome ISO RGD:1344933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 727917 Thtpa thiamine triphosphatase gene DOID:630 genetic disease ISO RGD:1344933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727917 Thtpa thiamine triphosphatase gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 727917 Thtpa thiamine triphosphatase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344933 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 727918 Pde4c phosphodiesterase 4C gene DOID:630 genetic disease ISO RGD:737216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727918 Pde4c phosphodiesterase 4C gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 727920 Nostrin nitric oxide synthase trafficking gene DOID:630 genetic disease ISO RGD:1348478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727920 Nostrin nitric oxide synthase trafficking gene DOID:9007096 Stroke IEP D RGD:631971|PMID:11489260 19990101 RGD 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23208507 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:1599922|PMID:8387545 20070221 RGD 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:0080700 caudal regression syndrome IAGP D RGD:40924666|PMID:27727328 20210224 RGD 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:1059 intellectual disability ISO RGD:1352454 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:1148 polydactyly IAGP D RGD:2312786|PMID:19191224 20090902 RGD DNA:deletion:intron (rat) 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1352454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352454 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352454 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 727921 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9006347 Skeletal Defects, Genital Hypoplasia, And Mental Retardation ISO RGD:1352454 D RGD:8554872 20140516 ClinVar ClinVar Annotator: match by term: SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:11891687|PMID:18611983 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:0060040 pervasive developmental disorder ISO RGD:1351608 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1351608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 PMID:25741868 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISS RGD:1551425 D RGD:13592920 20180518 MouseDO OMIM:130650 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1351608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1551425 D RGD:1581318|PMID:16650383 19990101 RGD 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:7240710 20211020 OMIM 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities PMID:25741868|PMID:33847457|PMID:34211179 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9002589 Bone Fractures ISO RGD:1351608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33847457|PMID:34211179 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9004657 Weight Gain ISO RGD:1351608 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1351608 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:25741868 727922 Sptbn1 spectrin, beta, non-erythrocytic 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1551425 D RGD:1581319|PMID:12543979 19990101 RGD 727923 Sfpq splicing factor proline and glutamine rich gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343285 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 727923 Sfpq splicing factor proline and glutamine rich gene DOID:37 skin disease ISO RGD:1343285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 727923 Sfpq splicing factor proline and glutamine rich gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 727923 Sfpq splicing factor proline and glutamine rich gene DOID:630 genetic disease ISO RGD:1343285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727923 Sfpq splicing factor proline and glutamine rich gene DOID:9007964 Arsenic Poisoning ISO RGD:1343285 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 727925 Lgsn lengsin, lens protein with glutamine synthetase domain gene DOID:630 genetic disease ISO RGD:1344000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727926 Zhx2 zinc fingers and homeoboxes 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1342946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 727926 Zhx2 zinc fingers and homeoboxes 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1342946 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 727926 Zhx2 zinc fingers and homeoboxes 2 gene DOID:630 genetic disease ISO RGD:1342946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727927 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601697 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 727927 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1601697 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727927 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:5419 schizophrenia ISO RGD:1601697 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727927 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:630 genetic disease ISO RGD:1601697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1642901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1642901 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1642901 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1642901 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:630 genetic disease ISO RGD:1642901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727928 Acsm4 acyl-CoA synthetase medium-chain family member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1642901 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 727929 Ddx24 DEAD-box helicase 24 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 727929 Ddx24 DEAD-box helicase 24 gene DOID:0081063 DICER1 syndrome ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 727929 Ddx24 DEAD-box helicase 24 gene DOID:630 genetic disease ISO RGD:1353174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727930 Gjc3 gap junction protein, gamma 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1553447 D RGD:1578421|PMID:16481432 19990101 RGD 727930 Gjc3 gap junction protein, gamma 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353703 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727930 Gjc3 gap junction protein, gamma 3 gene DOID:630 genetic disease ISO RGD:1353703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727933 Rnasel ribonuclease L gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 727933 Rnasel ribonuclease L gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1553469 D RGD:40902819|PMID:15670795 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:10283 prostate cancer ISO RGD:1346643 D RGD:1599614|PMID:12415269 20070208 RGD 727933 Rnasel ribonuclease L gene DOID:10283 prostate cancer ISO RGD:1346643 D RGD:2291998|PMID:15040862 20080408 RGD 727933 Rnasel ribonuclease L gene DOID:10283 prostate cancer ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11799394|PMID:12415269|PMID:16609730|PMID:28492532 727933 Rnasel ribonuclease L gene DOID:1540 parathyroid carcinoma ISO RGD:1346643 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727933 Rnasel ribonuclease L gene DOID:1612 breast cancer no_association ISO RGD:1346643 D RGD:2291997|PMID:15330212 20080408 RGD 727933 Rnasel ribonuclease L gene DOID:2043 hepatitis B ISO RGD:1553469 D RGD:40902828|PMID:11861827 20201213 RGD 727933 Rnasel ribonuclease L gene DOID:234 colon adenocarcinoma severity ISO RGD:1553469 D RGD:40902808|PMID:23567782 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:2365 West Nile encephalitis disease_progression ISO RGD:1553469 D RGD:40902815|PMID:16809306 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:2394 ovarian cancer ISO RGD:1346643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 727933 Rnasel ribonuclease L gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1553469 D RGD:40902622|PMID:23913960 20201209 RGD 727933 Rnasel ribonuclease L gene DOID:3298 vaccinia severity ISO RGD:1553469 D RGD:40902818|PMID:11967338 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:3298 vaccinia susceptibility ISO RGD:1553469 D RGD:40902816|PMID:20943971 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:3883 Lynch syndrome onset ISO RGD:1346643 D RGD:2292000|PMID:16054567 20080408 RGD 727933 Rnasel ribonuclease L gene DOID:630 genetic disease ISO RGD:1346643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727933 Rnasel ribonuclease L gene DOID:7427 anthrax disease severity ISO RGD:1553469 D RGD:40902812|PMID:19075243 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:8469 influenza ISO RGD:1553469 D RGD:40902622|PMID:23913960 20201209 RGD 727933 Rnasel ribonuclease L gene DOID:8704 genital herpes severity ISO RGD:1553469 D RGD:40902623|PMID:17157346 20201209 RGD 727933 Rnasel ribonuclease L gene DOID:9000099 Experimental Colitis severity ISO RGD:1553469 D RGD:40902808|PMID:23567782 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 727933 Rnasel ribonuclease L gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346643 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:16114055|PMID:17020975|PMID:27318894 727933 Rnasel ribonuclease L gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1553469 D RGD:40902812|PMID:19075243 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:9004531 Cardiovirus Infections ISO RGD:1553469 D RGD:40902809|PMID:21636578 20201210 RGD 727933 Rnasel ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:7240710 20190213 OMIM 727933 Rnasel ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:11799394|PMID:12415269|PMID:16609730|PMID:25741868|PMID:28492532 727933 Rnasel ribonuclease L gene DOID:9005539 Familial Prostate Cancer ISO RGD:1346643 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism 727933 Rnasel ribonuclease L gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:1553469 D RGD:40902617|PMID:23725696 20201209 RGD associated with Arterivirus Infections 727933 Rnasel ribonuclease L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346643 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 727933 Rnasel ribonuclease L gene DOID:9007899 Animal Viral Hepatitis ISO RGD:1553469 D RGD:40902807|PMID:27025250 20201210 RGD associated with Middle East respiratory syndrome 727933 Rnasel ribonuclease L gene DOID:9007899 Animal Viral Hepatitis disease_progression ISO RGD:1553469 D RGD:40902624|PMID:28003490 20201210 RGD associated with Coronaviridae Infections 727933 Rnasel ribonuclease L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346643 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1348534 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1348534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 727935 Fbxo11 F-box protein 11 gene DOID:10534 stomach cancer ISO RGD:1348534 D RGD:152025261|PMID:31829474 20220502 RGD protein:increased expression:stomach (human) 727935 Fbxo11 F-box protein 11 gene DOID:10534 stomach cancer exacerbates ISO RGD:1348534 D RGD:152025260|PMID:29278851 20220502 RGD mRNA, protein:increased expression:stomach (human) 727935 Fbxo11 F-box protein 11 gene DOID:1059 intellectual disability ISO RGD:1348534 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:10754 otitis media ISS RGD:1553509 D RGD:13592920 20180518 MouseDO OMIM:166760 727935 Fbxo11 F-box protein 11 gene DOID:2043 hepatitis B ISO RGD:1348534 D RGD:9068941 20220505 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 727935 Fbxo11 F-box protein 11 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1348534 D RGD:152025262|PMID:25203322 20220502 RGD human constructs and cell line in a mouse model 727935 Fbxo11 F-box protein 11 gene DOID:3883 Lynch syndrome ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:19250818|PMID:24323032|PMID:24362816|PMID:24689082|PMID:25741868|PMID:26467025|PMID:27620904|PMID:28135145|PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1348534 D RGD:152025265|PMID:31778188 20220502 RGD 727935 Fbxo11 F-box protein 11 gene DOID:630 genetic disease ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:9536098 727935 Fbxo11 F-box protein 11 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:32657545|REF_RGD_ID:152025263 727935 Fbxo11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:152025259|PMID:29518611 20220502 RGD mRNA:increased expression:liver (human) 727935 Fbxo11 F-box protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 727935 Fbxo11 F-box protein 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1348534 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30057029 727935 Fbxo11 F-box protein 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:9008582 Developmental Disease ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 727935 Fbxo11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:7240710 20190315 OMIM 727935 Fbxo11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:29796876|PMID:30057029|PMID:30679813|PMID:34505148 727935 Fbxo11 F-box protein 11 gene DOID:9970 obesity ISO RGD:1348534 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Obesity 727936 Tmem132a transmembrane protein 132A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 727936 Tmem132a transmembrane protein 132A gene DOID:1059 intellectual disability ISO RGD:1606273 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727936 Tmem132a transmembrane protein 132A gene DOID:630 genetic disease ISO RGD:1606273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727937 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:0050548 hereditary sensory neuropathy IMP D RGD:1299607|PMID:12874111 20171128 RGD 727937 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:5419 schizophrenia ISO RGD:1345648 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727937 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:630 genetic disease ISO RGD:1345648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727938 Clic6 chloride intracellular channel 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 727938 Clic6 chloride intracellular channel 6 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735803 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 727938 Clic6 chloride intracellular channel 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 727938 Clic6 chloride intracellular channel 6 gene DOID:0110648 long QT syndrome 6 ISO RGD:735803 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 727938 Clic6 chloride intracellular channel 6 gene DOID:1588 thrombocytopenia ISO RGD:735803 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 727938 Clic6 chloride intracellular channel 6 gene DOID:2661 myoepithelioma ISO RGD:735803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 727938 Clic6 chloride intracellular channel 6 gene DOID:630 genetic disease ISO RGD:735803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727938 Clic6 chloride intracellular channel 6 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia PMID:18723428|PMID:24100448|PMID:28492532 727939 Sema3d semaphorin 3D gene DOID:0050834 CHARGE syndrome ISO RGD:1348225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 727939 Sema3d semaphorin 3D gene DOID:10003 sensorineural hearing loss ISO RGD:1348225 D RGD:8554872 20170627 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 727939 Sema3d semaphorin 3D gene DOID:10487 Hirschsprung's disease ISO RGD:1348225 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 727939 Sema3d semaphorin 3D gene DOID:1826 epilepsy ISO RGD:1348225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 727939 Sema3d semaphorin 3D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348225 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727939 Sema3d semaphorin 3D gene DOID:630 genetic disease ISO RGD:1348225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727940 Spg7 SPG7 matrix AAA peptidase subunit, paraplegin gene DOID:0110816 hereditary spastic paraplegia 7 ISS RGD:1551589 D RGD:13592920 20200625 MouseDO OMIM:607259 727941 Aoc2-ps1 amine oxidase, copper containing 2, pseudogene 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344698 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 727941 Aoc2-ps1 amine oxidase, copper containing 2, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1344698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727945 Otp orthopedia homeobox gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1345021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 727945 Otp orthopedia homeobox gene DOID:630 genetic disease ISO RGD:1345021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727945 Otp orthopedia homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345021 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:0080600 COVID-19 ISO RGD:1350671 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1350671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17932310 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350671 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:630 genetic disease ISO RGD:1350671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350671 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9004484 Sepsis IEP D RGD:6484531|PMID:20647557 20120621 RGD mRNA:decreased expression:skeletal muscle 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:1350671 D RGD:1642499|PMID:16896940 20070921 RGD 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1350671 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1350671 D RGD:1642500|PMID:16759305 20070921 RGD DNA:polymorphism:exon:102605C>A 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9970 obesity ISO RGD:1350671 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:30738174 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9970 obesity ISO RGD:1350671 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Obesity, variation in PMID:15863669 727948 Ppargc1b PPARG coactivator 1 beta gene DOID:9970 obesity resistance ISO RGD:1350671 D RGD:1642501|PMID:15863669 20070921 RGD DNA:polymorphism: :p.A203P 727949 Dnm3 dynamin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354127 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727949 Dnm3 dynamin 3 gene DOID:630 genetic disease ISO RGD:1354127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727949 Dnm3 dynamin 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 727949 Dnm3 dynamin 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:1354127 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 727949 Dnm3 dynamin 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354127 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 727949 Dnm3 dynamin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354127 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727950 Spata31a5 SPATA31 subfamily A member 5 gene DOID:630 genetic disease ISO RGD:2303681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727951 Defa5 defensin alpha 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18394979 727951 Defa5 defensin alpha 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1345754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22197929|PMID:25305756 727951 Defa5 defensin alpha 5 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1345754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17934846 727951 Defa5 defensin alpha 5 gene DOID:630 genetic disease ISO RGD:1345754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727951 Defa5 defensin alpha 5 gene DOID:8577 ulcerative colitis ISO RGD:1345754 D RGD:11554173 20171121 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 727951 Defa5 defensin alpha 5 gene DOID:9001441 Adenomatous Polyps ISO RGD:1345754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15844706 727951 Defa5 defensin alpha 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15844706 727952 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1352808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 727952 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:5419 schizophrenia ISO RGD:1352808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18639743 727952 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1352808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727952 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:8893 psoriasis ISO RGD:1352808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18722346 727952 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1352808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 727952 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:9007763 Flushing ISO RGD:1352808 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 727954 Tmed7 transmembrane p24 trafficking protein 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 727954 Tmed7 transmembrane p24 trafficking protein 7 gene DOID:12849 autistic disorder ISO RGD:1342694 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727954 Tmed7 transmembrane p24 trafficking protein 7 gene DOID:13580 cholestasis ISO RGD:1342694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 727954 Tmed7 transmembrane p24 trafficking protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342694 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727954 Tmed7 transmembrane p24 trafficking protein 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 727954 Tmed7 transmembrane p24 trafficking protein 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342694 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 727955 Ldhal6b lactate dehydrogenase A-like 6B gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1342929 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:25741868 727955 Ldhal6b lactate dehydrogenase A-like 6B gene DOID:2717 Bloom syndrome ISO RGD:1342929 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 727955 Ldhal6b lactate dehydrogenase A-like 6B gene DOID:630 genetic disease ISO RGD:1342929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727955 Ldhal6b lactate dehydrogenase A-like 6B gene DOID:9008939 Breast Neoplasms ISO RGD:1342929 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 727955 Ldhal6b lactate dehydrogenase A-like 6B gene DOID:9256 colorectal cancer ISO RGD:1342929 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 727956 Lhx9 LIM homeobox 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1354474 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727956 Lhx9 LIM homeobox 9 gene DOID:630 genetic disease ISO RGD:1354474 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727956 Lhx9 LIM homeobox 9 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 727956 Lhx9 LIM homeobox 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354474 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727957 Ric8a RIC8 guanine nucleotide exchange factor A gene DOID:630 genetic disease ISO RGD:1604802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727957 Ric8a RIC8 guanine nucleotide exchange factor A gene DOID:9008939 Breast Neoplasms ISO RGD:1604802 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 727958 Zfp483 zinc finger protein 483 gene DOID:630 genetic disease ISO RGD:1604223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727959 Bysl bystin-like gene DOID:0050444 infantile Refsum disease ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 727959 Bysl bystin-like gene DOID:630 genetic disease ISO RGD:1352999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727959 Bysl bystin-like gene DOID:9000998 Brain Injuries IEP D RGD:2316201|PMID:15305856 20100129 RGD mRNA, protein:increased expression:substantia nigra, striatum (rat) 727959 Bysl bystin-like gene DOID:905 Zellweger syndrome ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:16199547|PMID:17187068|PMID:19036076|PMID:19499579|PMID:22624626|PMID:25741868|PMID:28492532|PMID:31589614|PMID:32054657|PMID:34426522 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1607073 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868|PMID:28492532 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:7240710 20140212 OMIM 727960 Hax1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:10581030|PMID:11519978|PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:19118303|PMID:19499579|PMID:20065084|PMID:20177699|PMID:20182745|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:22624626|PMID:24482108|PMID:25326635|PMID:25741868|PMID:28102861|PMID:28454995|PMID:28492532|PMID:31589614|PMID:31980526|PMID:32005694|PMID:32054657|PMID:32581362|PMID:33381479|PMID:34134972|PMID:34426522|PMID:34826056|PMID:9536098 727960 Hax1 HCLS1 associated protein X-1 gene DOID:1227 neutropenia ISO RGD:1607073 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532|PMID:32581362 727960 Hax1 HCLS1 associated protein X-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607073 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 727960 Hax1 HCLS1 associated protein X-1 gene DOID:5812 MHC class II deficiency ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 727960 Hax1 HCLS1 associated protein X-1 gene DOID:630 genetic disease ISO RGD:1607073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187068|PMID:18337561|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056 727960 Hax1 HCLS1 associated protein X-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607073 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 727961 Gtf2i general transcription factor II I gene DOID:0060041 autism spectrum disorder ISO RGD:1347498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048961 727961 Gtf2i general transcription factor II I gene DOID:0060041 autism spectrum disorder ISO RGD:1347498 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 727961 Gtf2i general transcription factor II I gene DOID:0060224 atrial fibrillation ISO RGD:1347498 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 727961 Gtf2i general transcription factor II I gene DOID:10923 sickle cell anemia ISO RGD:1347498 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:25741868 727961 Gtf2i general transcription factor II I gene DOID:12849 autistic disorder ISO RGD:1347498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727961 Gtf2i general transcription factor II I gene DOID:12894 Sjogren's syndrome ISO RGD:1347498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097066 727961 Gtf2i general transcription factor II I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20007321|PMID:21328569 727961 Gtf2i general transcription factor II I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 727961 Gtf2i general transcription factor II I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347498 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 727961 Gtf2i general transcription factor II I gene DOID:5419 schizophrenia ISO RGD:1347498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727961 Gtf2i general transcription factor II I gene DOID:630 genetic disease ISO RGD:1347498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727961 Gtf2i general transcription factor II I gene DOID:8445 intestinal volvulus ISO RGD:1347498 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 727961 Gtf2i general transcription factor II I gene DOID:9000048 Thymic Epithelial Tumor ISO RGD:1347498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 727961 Gtf2i general transcription factor II I gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347498 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 727961 Gtf2i general transcription factor II I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727961 Gtf2i general transcription factor II I gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347498 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 727961 Gtf2i general transcription factor II I gene DOID:9119 acute myeloid leukemia ISO RGD:1347498 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:0060041 autism spectrum disorder ISO RGD:1352879 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352879 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:12849 autistic disorder ISO RGD:1352879 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:5419 schizophrenia ISO RGD:1352879 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:630 genetic disease ISO RGD:1352879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:674 cleft palate ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352879 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:9005046 Hyperphosphatasia with Impaired Intellectual Development Syndrome ISO RGD:1352879 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:9006834 Glycosylphosphatidylinositol Deficiency ISO RGD:1352879 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352879 D RGD:7240710 20170503 OMIM 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1352879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24367057|PMID:24905847|PMID:25741868|PMID:26123568|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:31604004|PMID:32198969|PMID:32466763|PMID:9398836 727962 Pigw phosphatidylinositol glycan anchor biosynthesis, class W gene DOID:9008086 Developmental Disabilities ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 727963 Zfp24 zinc finger protein 24 gene DOID:1059 intellectual disability ISO RGD:1344102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 727963 Zfp24 zinc finger protein 24 gene DOID:630 genetic disease ISO RGD:1344102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727964 Syt15 synaptotagmin 15 gene DOID:5419 schizophrenia ISO RGD:30308885 D RGD:8554872 20200630 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727964 Syt15 synaptotagmin 15 gene DOID:630 genetic disease ISO RGD:30308885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727965 Wdr44 WD repeat domain 44 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348946 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 727965 Wdr44 WD repeat domain 44 gene DOID:12849 autistic disorder ISO RGD:1348946 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 727965 Wdr44 WD repeat domain 44 gene DOID:630 genetic disease ISO RGD:1348946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727966 Kat7 lysine acetyltransferase 7 gene DOID:10283 prostate cancer ISO RGD:737003 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 727966 Kat7 lysine acetyltransferase 7 gene DOID:1612 breast cancer severity ISO RGD:737003 D RGD:9681004|PMID:21040551 20141126 RGD protein:increased expression:breast (human) 727966 Kat7 lysine acetyltransferase 7 gene DOID:4674 androgen insensitivity syndrome ISO RGD:737003 D RGD:9681005|PMID:23707616 20141126 RGD protein:decreased expression:testes (human) 727966 Kat7 lysine acetyltransferase 7 gene DOID:630 genetic disease ISO RGD:737003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727967 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:2843 long QT syndrome ISO RGD:1604456 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 727967 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604456 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727967 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351390 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1351390 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:7240710 20190315 OMIM 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 PMID:21150889|PMID:22972949|PMID:25741868|PMID:28247337|PMID:28492532|PMID:33233646|PMID:34827632|PMID:34828274 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351390 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:1059 intellectual disability ISO RGD:1351390 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:3652 Leigh disease ISO RGD:1351390 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:5419 schizophrenia ISO RGD:1351390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:630 genetic disease ISO RGD:1351390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1351390 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 727968 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 727970 Rhot2 ras homolog family member T2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 727970 Rhot2 ras homolog family member T2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 727970 Rhot2 ras homolog family member T2 gene DOID:1826 epilepsy ISO RGD:1347429 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 727970 Rhot2 ras homolog family member T2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347429 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 727970 Rhot2 ras homolog family member T2 gene DOID:630 genetic disease ISO RGD:1347429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727971 Klhl24 kelch-like family member 24 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:34292882|PMID:34740256 727971 Klhl24 kelch-like family member 24 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1603221 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 727971 Klhl24 kelch-like family member 24 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1603221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 727971 Klhl24 kelch-like family member 24 gene DOID:0111546 Currarino syndrome ISO RGD:1603221 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 727971 Klhl24 kelch-like family member 24 gene DOID:630 genetic disease ISO RGD:1603221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 727971 Klhl24 kelch-like family member 24 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:34292882|PMID:34740256 727971 Klhl24 kelch-like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:7240710 20190315 OMIM 727971 Klhl24 kelch-like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss PMID:25741868|PMID:27798626|PMID:27889062|PMID:29779254|PMID:30120936|PMID:30226531|PMID:31649980|PMID:34292882|PMID:34740256 727971 Klhl24 kelch-like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:7240710 20230215 OMIM 727971 Klhl24 kelch-like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies PMID:30715372 727972 Zar1 zygote arrest 1 gene DOID:630 genetic disease ISO RGD:1351487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26669660|PMID:27290639|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30831263|PMID:31658717|PMID:34023438|PMID:34440436 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1348095 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:0111947 immunodeficiency 21 ISO RGD:1348095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:21057504 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:7240710 20130221 OMIM 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:16199547|PMID:17564966|PMID:17576681|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:23836383|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:27233227|PMID:27290639|PMID:27438479|PMID:27884173|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30311383|PMID:30831263|PMID:31658717|PMID:31665838|PMID:32313153|PMID:32746448|PMID:34023438|PMID:34440436|PMID:7599230|PMID:9536098 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:630 genetic disease ISO RGD:1348095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26475292|PMID:27233227|PMID:28492532|PMID:30831263|PMID:9536098 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 727973 Acad9 acyl-CoA dehydrogenase family, member 9 gene DOID:9270 alkaptonuria ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 727974 Tnfsf9 TNF superfamily member 9 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 727974 Tnfsf9 TNF superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1343892 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 727974 Tnfsf9 TNF superfamily member 9 gene DOID:2377 multiple sclerosis ISO RGD:1343892 D RGD:2317352|PMID:16970683 20100330 RGD protein:increased expression:plasma, monocyte (human) 727974 Tnfsf9 TNF superfamily member 9 gene DOID:2773 contact dermatitis ISO RGD:1343892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 727974 Tnfsf9 TNF superfamily member 9 gene DOID:630 genetic disease ISO RGD:1343892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727974 Tnfsf9 TNF superfamily member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1615149 D RGD:2317348|PMID:17325342 20100329 RGD 727974 Tnfsf9 TNF superfamily member 9 gene DOID:707 B-cell lymphoma ISO RGD:1615149 D RGD:2317349|PMID:10202049 20100330 RGD 727974 Tnfsf9 TNF superfamily member 9 gene DOID:820 myocarditis ISO RGD:1343892 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 727974 Tnfsf9 TNF superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343892 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 727974 Tnfsf9 TNF superfamily member 9 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1343892 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 727974 Tnfsf9 TNF superfamily member 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1343892 D RGD:2317350|PMID:11564827 20100330 RGD protein:increased expression:serum (human) 727974 Tnfsf9 TNF superfamily member 9 gene DOID:9256 colorectal cancer ISO RGD:1343892 D RGD:2317353|PMID:16596186 20100330 RGD protein:decreased expression:colon, rectum, mucosa (human) 727974 Tnfsf9 TNF superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1343892 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 727975 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 727975 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:1826 epilepsy ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 727975 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 727975 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:630 genetic disease ISO RGD:1351730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727976 Sgtb small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:630 genetic disease ISO RGD:1353974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 727976 Sgtb small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353974 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 727977 Uts2b urotensin 2B gene DOID:5419 schizophrenia ISO RGD:1603529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 727977 Uts2b urotensin 2B gene DOID:630 genetic disease ISO RGD:1603529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 728146 F344.BN-(D3Mgh13-D3Mgh7)/Dlw strain DOID:3829 pituitary adenoma induced IAGP XCO:0000295 D RGD:1581610|PMID:16416090 20200313 RGD 728155 BBDR.BBDP-(D4Mit6-D4Mit7)/1Rhw strain DOID:4195 hyperglycemia onset IAGP D RGD:2293508|PMID:18465680 20080611 RGD 728155 BBDR.BBDP-(D4Mit6-D4Mit7)/1Rhw strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:2293508|PMID:18465680 20080611 RGD compared to DR.lyp/+ 728155 BBDR.BBDP-(D4Mit6-D4Mit7)/1Rhw strain DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:6893459|PMID:19996157 20200304 RGD compared to BBDR/Rhw 728158 SS.LEW-(D5Uia4-D5Mco10)/Jr strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:619649|PMID:11875185 19990101 RGD compared to SS/Jr 728161 PD/Cub polydactylous strain DOID:9006646 Metabolic Syndrome MODEL: spontaneous IAGP D RGD:1580750|PMID:15007394 20200414 RGD 728161 PD/Cub polydactylous strain DOID:9006646 Metabolic Syndrome MODEL: spontaneous IAGP D RGD:728088|PMID:10925780 20200409 RGD 728184 SHRSP/A3N strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:28912746|PMID:11907153 20200902 RGD compared to WKY/N 728184 SHRSP/A3N strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:30296650|PMID:11682445 20200831 RGD compared to WKY/N 728184 SHRSP/A3N strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:36049805|PMID:3611778 20200902 RGD compared to WKY/N 728184 SHRSP/A3N strain DOID:10763 hypertension MODEL:spontaneous IAGP D RGD:27095952|PMID:17551266 20200728 RGD compared to WKY/NCrl 728184 SHRSP/A3N strain DOID:10763 hypertension treatment IAGP D RGD:36049805|PMID:3611778 20200902 RGD 728184 SHRSP/A3N strain DOID:1287 cardiovascular system disease treatment IAGP XCO:0000731 D RGD:36174026|PMID:11588531 20200903 RGD 728184 SHRSP/A3N strain DOID:576 proteinuria IAGP D RGD:30296650|PMID:11682445 20200831 RGD compared to WKY/N 728184 SHRSP/A3N strain DOID:576 proteinuria treatment IAGP D RGD:28912746|PMID:11907153 20200902 RGD 728186 LEW/SsN strain DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:632069|PMID:1097514 20201222 RGD 728187 ACI/N-j strain DOID:2382 kernicterus IAGP D RGD:1302917|PMID:1898623 19990101 RGD 728187 ACI/N-j strain DOID:9004898 Jaundice disease_progression IAGP D RGD:1302917|PMID:1898623 20180503 RGD 728194 SHR/N strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61484|PMID:9495256 19990101 RGD compared to DRY control strain 728194 SHR/N strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:731210|PMID:14678232 19990101 RGD compared to WKY/N control strain 728194 SHR/N strain DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:61484|PMID:9495256 19990101 RGD compared to DRY control strain 728196 RHA/N-j strain DOID:9004898 Jaundice disease_progression IAGP D RGD:1302917|PMID:1898623 20180503 RGD 728326 Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison gene DOID:11994 atrophy of testis IMP D RGD:727990|PMID:12754522 20210218 RGD 728326 Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison gene DOID:162 cancer IMP D RGD:1599505|PMID:16964288 20210429 RGD 728326 Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison gene DOID:5223 infertility IMP D RGD:727990|PMID:12754522 20180430 RGD 728326 Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison gene DOID:83 cataract IMP D RGD:1599505|PMID:16964288 20210429 RGD 728328 Srebf1_v2 sterol regulatory element binding factor 1, variant 2 gene DOID:9002231 Fetal Growth Retardation IEP D RGD:2308805|PMID:19017816 20090608 RGD 728328 Srebf1_v2 sterol regulatory element binding factor 1, variant 2 gene DOID:9007692 Insulin Resistance IEP D RGD:2308807|PMID:17241878 20090609 RGD associated with Fatty Liver;mRNA:increased expression:liver 728328 Srebf1_v2 sterol regulatory element binding factor 1, variant 2 gene DOID:9352 type 2 diabetes mellitus IEP D RGD:2308802|PMID:19357831 20090608 RGD mRNA:increased expression:liver 728331 Abcc9_v1 ATP binding cassette subfamily C member 9, variant 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735726 D RGD:1300328|PMID:15034580 20061209 RGD 728380 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:0080010 bone structure disease ISS RGD:1332510 D RGD:13592920 20180518 MouseDO 728380 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:630 genetic disease ISO RGD:1351393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 728380 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1351393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 728380 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351393 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 728383 UPL/Cas Upjohn Pharmaceuticals Limited strain DOID:83 cataract MODEL: spontaneous IAGP D RGD:727242|PMID:8282038 19990101 RGD 728392 RHA/N-di Roman high avoidance-di mutation strain DOID:9005274 Polyuria IAGP D RGD:2314670|PMID:3736782 20091123 RGD 728392 RHA/N-di Roman high avoidance-di mutation strain DOID:9409 diabetes insipidus IAGP D RGD:2314670|PMID:3736782 20091123 RGD 728889 Plin2 perilipin 2 gene DOID:630 genetic disease ISO RGD:730882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 728889 Plin2 perilipin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 728889 Plin2 perilipin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 728889 Plin2 perilipin 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730883 D RGD:1625752|PMID:17484887 20070628 RGD associated with Obesity 728889 Plin2 perilipin 2 gene DOID:9007692 Insulin Resistance ISO RGD:730883 D RGD:1625752|PMID:17484887 20070628 RGD associated with Obesity 728889 Plin2 perilipin 2 gene DOID:9452 fatty liver disease ISO RGD:730882 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16439473 728889 Plin2 perilipin 2 gene DOID:9452 fatty liver disease ISO RGD:730883 D RGD:1625752|PMID:17484887 20070628 RGD associated with Obesity 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0050700 cardiomyopathy ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:28445944 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:40818307|PMID:22837003 20201118 RGD Ace2 knockout 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:40818410|PMID:19517214 20201119 RGD Ace2 inhibitor 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347174 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0060903 thrombosis treatment IDA D RGD:9685451|PMID:20111697 20150109 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:19453650|PMID:19625462|PMID:22496216|PMID:23678171|PMID:24172901|PMID:24227843|PMID:25187545 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31996437|PMID:32061198|PMID:32081428|PMID:32092392|PMID:32117569|PMID:32129518|PMID:32132184|PMID:32133153|PMID:32142651|PMID:32149769|PMID:32201080|PMID:32203189|PMID:32275855|PMID:32286790|PMID:32404436 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:30310239|PMID:32380511 20200624 RGD human gene in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:151347432|PMID:34668780 20220121 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:151347433|PMID:34668775 20220121 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:32716393|PMID:32220422 20200628 RGD DNA:insertion/deletion:intron 16: 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:10763 hypertension IEP D RGD:629626|PMID:12075344 20201119 RGD mRNA, protein:decreased expression:kidney (rat) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:10763 hypertension IEP D RGD:9685442|PMID:20854846 20150109 RGD mRNA, protein:decreased expression:aorta 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12075344|PMID:15833808|PMID:17473847|PMID:18391097|PMID:19221212|PMID:20559404|PMID:21859683 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:1642828|PMID:16459167 20071019 RGD associated with Metabolic Syndrome X (MeSH:D024821) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:10763 hypertension treatment IEP D RGD:9685433|PMID:17345786 20150108 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:1550521 D RGD:9685435|PMID:16788004 20150108 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:22009550 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347174 D RGD:40818260|PMID:32448590 20201116 RGD mRNA, protein:increased expression:myocardium (human) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:12236 primary biliary cholangitis IEP D RGD:9685452|PMID:17532087 20150109 RGD mRNA, protein:increased expression:liver 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1550521 D RGD:32716392|PMID:26813885 20200626 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1347174 D RGD:32716392|PMID:26813885 20200626 RGD human protein in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:12849 autistic disorder ISO RGD:1347174 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1347174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19221212 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:16723697 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:13636 Fanconi anemia ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:14069 cerebral malaria susceptibility ISO RGD:1347174 D RGD:40818420|PMID:20117248 20201120 RGD DNA:SNP:intron 1: C>T 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:1686 glaucoma treatment IDA D RGD:9685447|PMID:23702784 20150109 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:2030 anxiety disorder ISO RGD:1347174 D RGD:11554173 20220510 CTD CTD Direct Evidence: marker/mechanism PMID:26767952 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1347174 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:16166518|PMID:16339146|PMID:19453650|PMID:19625462|PMID:23678171|PMID:24172901|PMID:24227843|PMID:26801988|PMID:31996437|PMID:32092392|PMID:32201080 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:40818405|PMID:19453650 20201119 RGD mRNA, protein:decreased expression:heart (mouse) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550521 D RGD:30309202|PMID:16007097 20200618 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1347174 D RGD:30309965|PMID:17974127 20200623 RGD human gene in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1347174 D RGD:32716426|PMID:32553273 20200630 RGD human gene in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:3525 middle cerebral artery infarction IEP D RGD:9685436|PMID:24090950 20150108 RGD mRNA, protein:increased expression:brain 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347174 D RGD:2325210|PMID:19212105 20100525 RGD protein:decreased expression:pancreas 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1347174 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27550926|PMID:33007385 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1550521 D RGD:4140483|PMID:20581171 20100831 RGD associated with Lung Injury;protein:decreased expression:lung 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:4492 avian influenza severity ISO RGD:1550521 D RGD:32716391|PMID:24800825 20200626 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:4492 avian influenza treatment ISO RGD:1347174 D RGD:32716391|PMID:24800825 20200626 RGD human protein in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:5844 myocardial infarction IEP D RGD:1558664|PMID:15671045 19990101 RGD mRNA:increased expression:myocardium 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:5844 myocardial infarction treatment IDA D RGD:9685449|PMID:23959549 20150109 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:25973029 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:40818416|PMID:32227090 20201120 RGD mRNA, protein:increased expression:heart (human) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1347174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:31931441 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1347174 D RGD:40818280|PMID:25225206 20201117 RGD human protein in a rat model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1347174 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:25301841 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:850 lung disease IEP D RGD:4140485|PMID:20465954 20100831 RGD associated with Poisoning;mRNA:decreased expression:lung 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:874 bacterial pneumonia ISO RGD:1550521 D RGD:40818279|PMID:31645418 20201117 RGD associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:8947 diabetic retinopathy ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: therapeutic PMID:31380462 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:40818278|PMID:31380462 20201117 RGD human gene in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:8548900|PMID:21792177 20140325 RGD associated with Diabetes Mellitus, Experimental 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9000310 Lung Injury ISO RGD:1347174 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:19864379|PMID:20484496|PMID:33007385 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1347174 D RGD:2313798|PMID:18753062 20091016 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :8790G>A (human) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:2316776|PMID:19793108 20150109 RGD protein:increased expression:liver 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:40818265|PMID:16166274 20201116 RGD mRNA, protein:increased expression, increased activity:liver (rat) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9001650 Pregnancy-Induced Hypertension IEP D RGD:8548898|PMID:17977916 20140325 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9001981 Weight Loss ISO RGD:1347174 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33007385 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12623933|PMID:17600118|PMID:20844835 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:2313796|PMID:19077419 20091016 RGD mRNA, protein:altered expression:kidney 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:2313797|PMID:19034303 20091016 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550521 D RGD:2313800|PMID:18235039 20091016 RGD associated with Diabetes Mellitus, Experimental 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1347174 D RGD:2313800|PMID:18235039 20091016 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:1347174 D RGD:40818408|PMID:21346373 20201119 RGD mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9003139 Cardiac Fibrosis treatment IEP D RGD:9685434|PMID:21148624 20150108 RGD associated with Hypertension 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347174 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347174 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1550521 D RGD:40818405|PMID:19453650 20201119 RGD encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1347174 D RGD:11554173 20210112 CTD CTD Direct Evidence: therapeutic PMID:27302421 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1550521 D RGD:40818412|PMID:25391767 20201120 RGD associated with avian influenza;protein:decreased expression:lung (mouse) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:1550521 D RGD:32716389|PMID:16001071 20200626 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1347174 D RGD:32716389|PMID:16001071 20200626 RGD human protein in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1550521 D RGD:40400897|PMID:29990483 20201120 RGD associated with Escherichia coli Infections 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9004616 Left Ventricular Hypertrophy IEP D RGD:9685455|PMID:18544849 20150109 RGD 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9005372 Inflammation ISO RGD:1347174 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:19453650 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2313799|PMID:18679036 20091016 RGD protein:altered expression:kidney 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9005883 Pleural Effusion ISO RGD:1347174 D RGD:40818411|PMID:23091417 20201119 RGD associated with tuberculosis;protein:decreased activity:pleural fluid (human) 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9685432|PMID:20528771 20150108 RGD mRNA:decreased expression:kidney 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1347174 D RGD:40818264|PMID:25228068 20201116 RGD human gene in a mouse model 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment IDA D RGD:9685456|PMID:22595130 20150109 RGD associated with Diabetes Mellitus, Experimental 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment IEP D RGD:9685440|PMID:18223026 20150109 RGD associated with Acute Kidney Injury 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9685428|PMID:22340266 20150108 RGD associated with Diabetic Cardiomyopathies 728890 Ace2 angiotensin I converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9685439|PMID:20507236 20150109 RGD associated with Myocardial Infarction 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:14070830|PMID:14505035|PMID:14556203|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15504600|PMID:15547422|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19051073|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21366436 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21728791|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24596593|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26769242|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27792752|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31620696|PMID:31827275|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448|PMID:9856479 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10980526|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11807148|PMID:11935342|PMID:11968091|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12239718|PMID:12372058|PMID:12522556|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15151513|PMID:15219044|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15464308|PMID:15479191|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15790391|PMID:15855033|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16336662|PMID:16379542|PMID:16380907|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16945493|PMID:17146393|PMID:17253936|PMID:17406097|PMID:17428550|PMID:17462767|PMID:17553572|PMID:17576681|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18570691|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:19072567|PMID:19157576|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:20022641|PMID:20073550|PMID:20086291|PMID:20096356|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20407643|PMID:20563649|PMID:20739944|PMID:20815033|PMID:20890442|PMID:21040787|PMID:2104787|PMID:21122151|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21510145|PMID:21776002|PMID:21910243|PMID:22000900|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23451214|PMID:23489192|PMID:23504403|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24346070|PMID:24387126|PMID:24529908|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25153233|PMID:25262649|PMID:25288386|PMID:25388846|PMID:25555641|PMID:25636251|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26188157|PMID:26381000|PMID:26467025|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27481527|PMID:27843504|PMID:28492532|PMID:29062245|PMID:29362677|PMID:29501291|PMID:29921236|PMID:3|PMID:30086704|PMID:30094485|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:30989077|PMID:31346875|PMID:32747562|PMID:33524517|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9819448|PMID:9856479 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:7240710 20130221 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:7364821|PMID:15482471 20131001 RGD DNA:mutation:cds:p.N54K(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15952212|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17106596|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984 728891 Gjb2 gap junction protein, beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome | ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30565282|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1351211 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:30311386 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7240710 20131030 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7364811|PMID:20307501 20131001 RGD DNA:mutations:cds:p.G11E,p.D50N(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7364813|PMID:18950394 20131001 RGD DNA:mutation:cds:p.N14K(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7364885|PMID:23924173 20140129 RGD DNA:mutation:cds:p.D50N (human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12752120|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14700667|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27087580|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34008892|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1550135 D RGD:7364809|PMID:20926451 20131001 RGD p.S17F(mouse) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1550135 D RGD:7364889|PMID:22031297 20131008 RGD p.G45E(mouse) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110253 cataract 14 multiple types ISO RGD:1351211 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24367894|PMID:25741868 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:7240710 20130221 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14643477|PMID:14676473|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15603707|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17077310|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18316665|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18580690|PMID:18607988|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18809215|PMID:18837651|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:18990456|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19390476|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20601923|PMID:20607074|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21557232|PMID:21728791|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22484064|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22787277|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23120683|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23418865|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23751281|PMID:23757202|PMID:23804846|PMID:23812555|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:23967202|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24224790|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24503448|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26046157|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27067584|PMID:27087580|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27316387|PMID:27340645|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27518711|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29665173|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30473554|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31152317|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33297549|PMID:33333757|PMID:33466560|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9838096|PMID:9856479 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10049954|PMID:10204859|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11807148|PMID:11912510|PMID:11935342|PMID:11968091|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14694360|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15617550|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19707039|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20095872|PMID:20154630|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20497192|PMID:20563649|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20981092|PMID:21094084|PMID:21122151|PMID:21162657|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21776002|PMID:21811586|PMID:21910243|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23489192|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24341454|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25087612|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26336802|PMID:26444186|PMID:26467025 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:26482070|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:27045574|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27481527|PMID:27610647|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29921236|PMID:29926981|PMID:3|PMID:30086704|PMID:30094485|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33126609|PMID:33297549|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:7240710 20130221 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11298683|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786758|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20854437|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 728891 Gjb2 gap junction protein, beta 2 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:7240710 20130221 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:7364824|PMID:10369869 20131001 RGD DNA:mutation:cds:p.D66H(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1550135 D RGD:11568635|PMID:12837696 20161208 RGD 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:11097846|PMID:18688874 20161208 RGD DNA:missense mutation:cds:p.G130V(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:11568636|PMID:24975403 20161208 RGD DNA:misense mutation:cds:c.224G>A (p.R75Q)(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:7240710 20130221 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:7364814|PMID:18787097 20131001 RGD DNA:missense mutation:cds:p.S183F(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:7364819|PMID:17993581 20131001 RGD DNA:mutation:cds:p.H73R(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15040442|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25937001|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28590052|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:28492532|PMID:30431684 728891 Gjb2 gap junction protein, beta 2 gene DOID:10003 sensorineural hearing loss IEP D RGD:7349365|PMID:23827367 20130923 RGD protein:increased expression:cochlea: 728891 Gjb2 gap junction protein, beta 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15091236 728891 Gjb2 gap junction protein, beta 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10204859|PMID:10369869|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10874298|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:11912510|PMID:11918723|PMID:12072059|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12522556|PMID:12548749|PMID:12562518|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12865758|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15359540|PMID:15365987|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15757815|PMID:15769851|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16532460|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:17330861|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17660464|PMID:17666888|PMID:17671735|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18472371|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18985073|PMID:18987669|PMID:19043807|PMID:19101659|PMID:19125024|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19929408|PMID:20073550|PMID:20086291|PMID:20086306|PMID:20101161|PMID:20236118|PMID:20301449|PMID:20668687|PMID:20739944|PMID:20815033|PMID:21220926|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22389666|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22613756|PMID:22704424|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23489192|PMID:23668481|PMID:23757202|PMID:23797420|PMID:23924173|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24158896|PMID:24346070|PMID:24774219|PMID:25262649|PMID:25266519|PMID:25388846|PMID:25575739|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26178431|PMID:26188157|PMID:26467025|PMID:26553399|PMID:26749107|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27884173|PMID:28492532|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30431684|PMID:30872814|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:12577 urethral obstruction IEP D RGD:11568666|PMID:11900482 20161209 RGD mRNA,protein:increased expression:urothelium: 728891 Gjb2 gap junction protein, beta 2 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 728891 Gjb2 gap junction protein, beta 2 gene DOID:13619 extrahepatic cholestasis IEP D RGD:7349397|PMID:7762611 20130924 RGD 728891 Gjb2 gap junction protein, beta 2 gene DOID:14693 Clouston syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 728891 Gjb2 gap junction protein, beta 2 gene DOID:1697 ichthyosis ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 728891 Gjb2 gap junction protein, beta 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 728891 Gjb2 gap junction protein, beta 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 728891 Gjb2 gap junction protein, beta 2 gene DOID:326 ischemia IEP D RGD:11568671|PMID:24728265 20161209 RGD in urinary bladder; protein:increased expression:urothelium: 728891 Gjb2 gap junction protein, beta 2 gene DOID:3390 palmoplantar keratosis ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 728891 Gjb2 gap junction protein, beta 2 gene DOID:3488 cellulitis ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 728891 Gjb2 gap junction protein, beta 2 gene DOID:3910 lung adenocarcinoma IDA D RGD:11568669|PMID:16637067 20161209 RGD DNA, mRNA:hypermethylation, decreased expression:lung 728891 Gjb2 gap junction protein, beta 2 gene DOID:4677 keratitis ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 728891 Gjb2 gap junction protein, beta 2 gene DOID:630 genetic disease ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10049954|PMID:10204859|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10903123|PMID:10982180|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11746015|PMID:11807148|PMID:11935342|PMID:12081719|PMID:12121355|PMID:12172392|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12384501|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12560944|PMID:12684873|PMID:12786762|PMID:12792423|PMID:12865758|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15235031|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15666300|PMID:15700112|PMID:15954104|PMID:15967879|PMID:16077952|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17331080|PMID:17357124|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19027181|PMID:19125024|PMID:19173109|PMID:19235794|PMID:19371219|PMID:19375528|PMID:19707039|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20083784|PMID:20236118|PMID:20301449|PMID:20708129|PMID:20739944|PMID:20815033|PMID:21131880|PMID:21220926|PMID:21287563|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21811586|PMID:21910243|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22574200|PMID:22668073|PMID:22695344|PMID:22785241|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23141775|PMID:23489192|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24945352|PMID:25085072|PMID:25262649|PMID:25288386|PMID:25326637|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26236732|PMID:26346709|PMID:26399936|PMID:26467025|PMID:26482070|PMID:26885124|PMID:26896187|PMID:26969326|PMID:2706105|PMID:27623246|PMID:27884957|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29773520|PMID:29926981|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:31160754|PMID:31370293|PMID:31562289|PMID:31620164|PMID:32258544|PMID:33126609|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:684 hepatocellular carcinoma IDA D RGD:2289638|PMID:17295234 20161209 RGD DNA, mRNA:promoter hypermethylation, decreased expression:liver 728891 Gjb2 gap junction protein, beta 2 gene DOID:7188 autoimmune thyroiditis IEP D RGD:7349390|PMID:8770903 20130924 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: 728891 Gjb2 gap junction protein, beta 2 gene DOID:8893 psoriasis ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:24212883 728891 Gjb2 gap junction protein, beta 2 gene DOID:9001586 Experimental Liver Neoplasms IEP D RGD:7349398|PMID:1336494 20130924 RGD 728891 Gjb2 gap junction protein, beta 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351211 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 728891 Gjb2 gap junction protein, beta 2 gene DOID:9002633 Premature Obstetric Labor IDA D RGD:11568660|PMID:8612484 20161209 RGD 728891 Gjb2 gap junction protein, beta 2 gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:7349367|PMID:15224875 20130923 RGD protein:increased expression:cochlea: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:7364794|PMID:24022696 20130930 RGD DNA:deletion: :c.35delG(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:7364810|PMID:20601923 20131001 RGD DNA:dels,polymorphism:cds:c.235delC,c.35delG,c.585G>C(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:7364886|PMID:23637863 20131007 RGD DNA:mutation:cds:p.V37I(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:7364893|PMID:19173109 20131008 RGD 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15769851|PMID:15790391|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20101161|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20937258|PMID:20981092|PMID:21040787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22498363 728891 Gjb2 gap junction protein, beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:22567152|PMID:22567369|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23039283|PMID:23120683|PMID:23141775|PMID:23328711|PMID:23418865|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24256046|PMID:24346070|PMID:24503448|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25808784|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27340645|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29921236|PMID:29926981|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30168495|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31589614|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:34335733|PMID:34440441|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:7364887|PMID:22110070 20131007 RGD mRNA,protein:decreased expression:retina: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9005709 Keratitis-Ichthyosis-Deafness Syndrome ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome PMID:10049954|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11386851|PMID:11556849|PMID:11668644|PMID:11935342|PMID:15967879|PMID:16380907|PMID:17666888|PMID:18414213|PMID:19125024|PMID:20301449|PMID:20739944|PMID:21465647|PMID:22567369|PMID:22695344|PMID:22785241|PMID:24033266|PMID:24158611|PMID:24529908|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26467025|PMID:26896187|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754|PMID:9285800|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364796|PMID:23680645 20130930 RGD DNA:mutations:multiple: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364798|PMID:23073770 20130930 RGD DNA:mutations:multiple: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364803|PMID:23554706 20130930 RGD DNA:mutations:multiple: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364812|PMID:20022641 20131001 RGD DNA:mutations:multiple: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364817|PMID:23668481 20131001 RGD DNA:mutations:multiple: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364823|PMID:10633133 20131001 RGD DNA:mutations:cds:c.235delC,p.Y136X,P.R143W(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364883|PMID:24052745 20131007 RGD DNA:mutations:cds:c.35delG,p.W24X(human) 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364888|PMID:22037723 20131008 RGD DNA:misssense mutations,deletion:cds: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:7364892|PMID:21227513 20131008 RGD DNA:missense mutations,deletion:cds: 728891 Gjb2 gap junction protein, beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:10049954|PMID:10376574|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313763|PMID:11386851|PMID:11493200|PMID:11556849|PMID:11584050|PMID:11668644|PMID:11935342|PMID:12189487|PMID:12560944|PMID:12865758|PMID:12925341|PMID:14681040|PMID:14694360|PMID:14722929|PMID:15070423|PMID:15150777|PMID:15365987|PMID:15617550|PMID:15666300|PMID:15967879|PMID:16217030|PMID:16222667|PMID:16380907|PMID:16467727|PMID:16931589|PMID:16950989|PMID:17041943|PMID:17146393|PMID:17666888|PMID:17935238|PMID:18414213|PMID:18758381|PMID:19125024|PMID:19371219|PMID:19384972|PMID:19715472|PMID:19929407|PMID:20086306|PMID:20234132|PMID:20301449|PMID:20381175|PMID:20553101|PMID:20739944|PMID:20863150|PMID:21094084|PMID:21287563|PMID:21465647|PMID:21912263|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22785241|PMID:23266159|PMID:24033266|PMID:24158611|PMID:24256046|PMID:24529908|PMID:24706568|PMID:25162826|PMID:25388846|PMID:25401782|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26346709|PMID:26467025|PMID:26749107|PMID:26763877|PMID:26896187|PMID:27045574|PMID:27247933|PMID:27501294|PMID:27534436|PMID:28428247|PMID:28492532|PMID:29196752|PMID:29501291|PMID:30311386|PMID:30896630|PMID:31160754|PMID:9285800|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008681 Deafness ISO RGD:1351211 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008681 Deafness ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:12081719|PMID:12172392|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12684873|PMID:12786762|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15666300|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16300957|PMID:16336662|PMID:163800907|PMID:16380907|PMID:16773579|PMID:16849369|PMID:16868655|PMID:17041943|PMID:17428550|PMID:17553572|PMID:17661817|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19173109|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20236118|PMID:20301449|PMID:20739944|PMID:20815033|PMID:21094084|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22567152|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23489192|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24793888|PMID:25189242|PMID:25214170|PMID:25637381|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26467025|PMID:26896187|PMID:26969326|PMID:2706105|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9600457|PMID:9620796|PMID:9819448 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008681 Deafness ISO RGD:1550135 D RGD:7364799|PMID:22975134 20130930 RGD 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:7240710 20131030 OMIM 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:21055240|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098 728891 Gjb2 gap junction protein, beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 728892 E2f1 E2F transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:730923 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 728892 E2f1 E2F transcription factor 1 gene DOID:10283 prostate cancer ISO RGD:730923 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 728892 E2f1 E2F transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730923 D RGD:10401093|PMID:11939591 20150925 RGD protein:increased expression:cerebral cortex,cytoplasm: 728892 E2f1 E2F transcription factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730923 D RGD:13602004|PMID:20421545 20180529 RGD mRNA:increased expression:bladder 728892 E2f1 E2F transcription factor 1 gene DOID:12858 Huntington's disease IEP D RGD:2316262|PMID:18768156 20100202 RGD protein:increased expression:brain 728892 E2f1 E2F transcription factor 1 gene DOID:12894 Sjogren's syndrome ISS RGD:730924 D RGD:13592920 20180518 MouseDO OMIM:270150 728892 E2f1 E2F transcription factor 1 gene DOID:1307 dementia ISO RGD:730923 D RGD:10401091|PMID:11423103 20150925 RGD associated with Down Syndrome;protein:increased expression:frontal cortex; 728892 E2f1 E2F transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730923 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29464002 728892 E2f1 E2F transcription factor 1 gene DOID:1793 pancreatic cancer treatment IEP D RGD:13838737|PMID:28344092 20190114 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:1909 melanoma ISO RGD:730923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15574415|PMID:16827129 728892 E2f1 E2F transcription factor 1 gene DOID:2843 long QT syndrome ISO RGD:730923 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 728892 E2f1 E2F transcription factor 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:730923 D RGD:13702471|PMID:16264179 20180718 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3070 high grade glioma severity ISO RGD:730923 D RGD:13702468|PMID:28042322 20180718 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3347 osteosarcoma ISO RGD:730923 D RGD:151347601|PMID:29039472 20220127 RGD human cells in mouse model 728892 E2f1 E2F transcription factor 1 gene DOID:3347 osteosarcoma severity ISO RGD:730923 D RGD:151347601|PMID:29039472 20220127 RGD protein:increased expression:bone (human) 728892 E2f1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:730923 D RGD:13838738|PMID:27573434 20190114 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) 728892 E2f1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:13838735|PMID:12650514 20190111 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) 728892 E2f1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:13838739|PMID:17233815 20190114 RGD DNA:amplification: : (human) 728892 E2f1 E2F transcription factor 1 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:730923 D RGD:13464332|PMID:28927142 20180103 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730923 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 728892 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730923 D RGD:13464342|PMID:12237873 20180104 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730923 D RGD:9590260|PMID:23543735 20180104 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730923 D RGD:13464333|PMID:28498400 20180103 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730923 D RGD:13464343|PMID:12358350 20180104 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730923 D RGD:13464334|PMID:26695082 20180103 RGD mRNA:increased expression:lung 728892 E2f1 E2F transcription factor 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:730923 D RGD:13838736|PMID:28797284 20190111 RGD Human cells in a mouse model 728892 E2f1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:730923 D RGD:13464344|PMID:11313916 20180104 RGD mRNA, protein:increased expression:lung 728892 E2f1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:730923 D RGD:13464335|PMID:24755270 20180103 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:730923 D RGD:13464337|PMID:23792570 20180104 RGD 728892 E2f1 E2F transcription factor 1 gene DOID:630 genetic disease ISO RGD:730923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 728892 E2f1 E2F transcription factor 1 gene DOID:646 viral encephalitis ISO RGD:730923 D RGD:10401094|PMID:11896158 20150925 RGD associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm: 728892 E2f1 E2F transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730923 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:28284560 728892 E2f1 E2F transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:730923 D RGD:13674165|PMID:26460262 20180710 RGD mRNA:increased expression:blood 728892 E2f1 E2F transcription factor 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:730923 D RGD:151347601|PMID:29039472 20220127 RGD protein:increased expression:bone (human) 728892 E2f1 E2F transcription factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730923 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 728892 E2f1 E2F transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14672398 728892 E2f1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:1300306|PMID:15146237 19990101 RGD E2f1/E2f2 double knockout 728892 E2f1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISS RGD:730924 D RGD:13592920 20180518 MouseDO OMIM:222100 728895 Trhde thyrotropin-releasing hormone degrading enzyme gene DOID:2843 long QT syndrome ISO RGD:730936 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 728895 Trhde thyrotropin-releasing hormone degrading enzyme gene DOID:630 genetic disease ISO RGD:730936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:13810 familial hypercholesterolemia ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17599443|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18652535|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23298392|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26586530|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27602404|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29572815|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30227170|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32640185|PMID:32719484|PMID:33111339|PMID:33147992|PMID:33173529|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34341098|PMID:34521694|PMID:34526433|PMID:34739847|PMID:35929461 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:1580999|PMID:16619215 19990101 RGD DNA:insertion:cds:c.43_44CTG (human) 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23095242|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29997226|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:3393 coronary artery disease ISO RGD:731023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:630 genetic disease ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:731023 D RGD:1581000|PMID:16554528 19990101 RGD DNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human) 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:731023 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12730697 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:34521694|PMID:34526433|PMID:35929461 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9002189 High Myopia ISO RGD:731023 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:7240710 20130221 OMIM 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17576681|PMID:17599443|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18652535|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27602404|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30227170|PMID:30241732|PMID:30269829|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32640185|PMID:32719484|PMID:33147992|PMID:33173529|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34341098|PMID:34521694|PMID:34526433|PMID:35929461|PMID:9536098 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:1580998|PMID:12730697 20070424 RGD DNA:missense mutations:cds:p.S127R, p.F216L (human) 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:1581002|PMID:14727179 19990101 RGD DNA:missense mutation:cds:p.D374Y (human) 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:1626106|PMID:17380167 20070711 RGD 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II severity ISO RGD:731023 D RGD:1581001|PMID:15772090 19990101 RGD DNA:missense mutation:cds:p.D374Y (human) 728909 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9007751 Hypocholesterolemia ISO RGD:731023 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypocholesterolemia PMID:15654334|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16909389|PMID:16912035|PMID:16989838|PMID:17599443|PMID:18354102|PMID:18652535|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20031607|PMID:20579540|PMID:22875854|PMID:23743349|PMID:24507774|PMID:25278291|PMID:25412415|PMID:25741868|PMID:26049403|PMID:26467025|PMID:27135400|PMID:27218270|PMID:27280970|PMID:27602404|PMID:27765764|PMID:28492532|PMID:28768753|PMID:28965616|PMID:29083407|PMID:29261184|PMID:29997226|PMID:30227170|PMID:30726226|PMID:30899674 731164 Uae25 Urinary albumin excretion QTL 25 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731165 Uae21 Urinary albumin excretion QTL 21 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731166 Mamtr2 Mammary tumor resistance QTL 2 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:724790|PMID:14522903 20130513 RGD 731167 Glom4 Glomerulus QTL 4 qtl DOID:576 proteinuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731167 Glom4 Glomerulus QTL 4 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731168 Bp154 Blood pressure QTL 154 qtl DOID:10763 hypertension IDA D RGD:730283|PMID:14623828 19990101 RGD 731169 Bp153 Blood pressure QTL 153 qtl DOID:10763 hypertension IDA D RGD:728381|PMID:14597851 19990101 RGD 731170 Pur3 Proteinuria QTL 3 qtl DOID:576 proteinuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731171 Glom6 Glomerulus QTL 6 qtl DOID:576 proteinuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731171 Glom6 Glomerulus QTL 6 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731172 Bp151 Blood pressure QTL 151 qtl DOID:10763 hypertension IAGP D RGD:724791|PMID:14517349 19990101 RGD 731173 Uae22 Urinary albumin excretion QTL 22 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731174 Uae23 Urinary albumin excretion QTL 23 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731175 Uae20 Urinary albumin excretion QTL 20 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731176 Glom5 Glomerulus QTL 5 qtl DOID:576 proteinuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731176 Glom5 Glomerulus QTL 5 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731177 Uae26 Urinary albumin excretion QTL 26 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731178 Oia7 Oil induced arthritis QTL 7 qtl DOID:9002457 Experimental Arthritis IDA D RGD:730281|PMID:12915467 19990101 RGD 731179 Mamtr3 Mammary tumor resistance QTL 3 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:724790|PMID:14522903 20130513 RGD 731180 Bp152 Blood pressure QTL 152 qtl DOID:10763 hypertension IAGP D RGD:724791|PMID:14517349 19990101 RGD 731181 Uae27 Urinary albumin excretion QTL 27 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731182 Uae24 Urinary albumin excretion QTL 24 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD 731183 Pia20 Pristane induced arthritis QTL 20 qtl DOID:9002457 Experimental Arthritis IDA D RGD:730280|PMID:14624754 19990101 RGD 731184 Mamtr4 Mammary tumor resistance QTL 4 qtl DOID:9005233 Experimental Mammary Neoplasms IDA D RGD:724790|PMID:14522903 20130513 RGD 731185 MWF/Fub Munich Wistar Fromter strain DOID:9001542 Albuminuria IAGP D RGD:25314290|PMID:17921827 20210709 RGD compared to Wi 731185 MWF/Fub Munich Wistar Fromter strain DOID:9001542 Albuminuria MODEL: spontaneous IAGP D RGD:730279|PMID:14638907 19990101 RGD compared to SHR/Fub strain 731185 MWF/Fub Munich Wistar Fromter strain DOID:9001542 Albuminuria induces IAGP XCO:0000022 D RGD:25314241|PMID:10872564 20210709 RGD compared to standard diet and LEW 731185 MWF/Fub Munich Wistar Fromter strain DOID:9004303 Tubulointerstitial Fibrosis MODEL: spontaneous IAGP D RGD:730279|PMID:14638907 19990101 RGD compared to SHR/Fub strain 731194 SS.LEW-(D3Chm64-D3Rat17)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:724791|PMID:14517349 19990101 RGD 731194 SS.LEW-(D3Chm64-D3Rat17)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20131211 RGD 731195 DA.E3-(D14Wox8-D14Rat64)/Rhd strain DOID:9002457 Experimental Arthritis disease_progression IAGP XCO:0000263 D RGD:730280|PMID:14624754 19990101 RGD 734472 SS.LEW-(D1Mco2-D1Wox6)/Jr strain DOID:9003287 Body Weight Changes induced IAGP XCO:0000022 D RGD:61514|PMID:11015570 19990101 RGD compared to SS/Jr 734472 SS.LEW-(D1Mco2-D1Wox6)/Jr strain DOID:9006024 Hypotension induced IAGP XCO:0000022 D RGD:61514|PMID:11015570 19990101 RGD compared to SS/Jr 734475 DA/OlaHsd strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP D RGD:1358860|PMID:15641042 20201030 RGD compared to DA.ACI-(D2Mit12-D2Mgh29/Nsi congenic 734475 DA/OlaHsd strain DOID:9005396 Intimal Hyperplasia induces IAGP XCO:0000268 D RGD:39456133|PMID:10364562 20210713 RGD compared to SHR and SD 734476 Crl:CD(SD) strain DOID:9005233 Experimental Mammary Neoplasms IAGP XCO:0000397,XCO:0000090 D RGD:8548618|PMID:19590682 20191202 RGD 734478 F344/DuCrl strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 734481 SS.LEW-(D1Mco2-D1Mco35)/Jr strain DOID:9006024 Hypotension induced IAGP XCO:0000022 D RGD:61514|PMID:11015570 19990101 RGD compared to SS/Jr 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1643008|PMID:17938382 20191210 RGD compared to control strain WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2301356|PMID:18819818 20081008 RGD compared to WKY/Gcrc and congenic strains; MMO:0000015 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61041|PMID:8901842 20191204 RGD compared to control strain WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:631154|PMID:12624007 20191205 RGD compared to control strain WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:68910|PMID:10642295 20191205 RGD compared to control strain WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:2316 brain ischemia MODEL: induced IAGP XCO:0000348 D RGD:18936990|PMID:10024327 20200127 RGD compared to WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:2316 brain ischemia MODEL: induced IAGP XCO:0000348 D RGD:61056|PMID:9241273 20070618 RGD compared to WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:9007096 Stroke MODEL: induced IAGP XCO:0000348 D RGD:2313614|PMID:19797186 20200127 RGD compared to WKY/Gcrc 734759 SHRSP/Gcrc Spontaneously hypertensive rat, stroke prone strain DOID:9007096 Stroke MODEL: induced IAGP XCO:0000348 D RGD:61056|PMID:9241273 20070618 RGD compared to WKY/Gcrc 734760 WKY/Gcrc Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:1643008|PMID:17938382 20191210 RGD compared to hypertensive strain SHRSP/Gcrc 734760 WKY/Gcrc Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:61041|PMID:8901842 20191204 RGD compared to spontaneously hypertensive strain SHRSP/Gcrc 734760 WKY/Gcrc Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:631154|PMID:12624007 20191205 RGD compared to spontaneously hypertensive strain SHRSP/Gcrc 734760 WKY/Gcrc Wistar-Kyoto strain DOID:10763 hypertension MODEL: control IAGP D RGD:68910|PMID:10642295 20191205 RGD compared to spontaneously hypertensive strain SHRSP/Gcrc 734767 Niddm57 Non-insulin dependent diabetes mellitus QTL 57 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:619679|PMID:11355573 19990101 RGD 734767 Niddm57 Non-insulin dependent diabetes mellitus QTL 57 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:619679|PMID:11355573 19990101 RGD 734767 Niddm57 Non-insulin dependent diabetes mellitus QTL 57 qtl DOID:9970 obesity IDA D RGD:619679|PMID:11355573 19990101 RGD 734768 Niddm59 Non-insulin dependent diabetes mellitus QTL 59 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:734465|PMID:12190994 19990101 RGD 734768 Niddm59 Non-insulin dependent diabetes mellitus QTL 59 qtl DOID:9970 obesity IAGP D RGD:734465|PMID:12190994 19990101 RGD 734769 Niddm58 Non-insulin dependent diabetes mellitus QTL 58 qtl DOID:9007692 Insulin Resistance IAGP D RGD:619683|PMID:11153534 19990101 RGD 734769 Niddm58 Non-insulin dependent diabetes mellitus QTL 58 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:619683|PMID:11153534 19990101 RGD 734769 Niddm58 Non-insulin dependent diabetes mellitus QTL 58 qtl DOID:9970 obesity IAGP D RGD:619683|PMID:11153534 19990101 RGD 7349321 LEXF2D/Stm strain DOID:0080916 erythroleukemia induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 7349322 LEXF8B/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD 735014 Gkn1 gastrokine 1 gene DOID:299 adenocarcinoma ISO RGD:1351595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 735014 Gkn1 gastrokine 1 gene DOID:5119 ovarian cyst ISO RGD:1351595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 735014 Gkn1 gastrokine 1 gene DOID:630 genetic disease ISO RGD:1351595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735014 Gkn1 gastrokine 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351595 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 735015 Dsg4 desmoglein 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348036 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 735015 Dsg4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:7240710 20171011 OMIM 735015 Dsg4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 6 PMID:12705872|PMID:16439973|PMID:16543896|PMID:16575393|PMID:17392831|PMID:25251037|PMID:25741868|PMID:28492532 735015 Dsg4 desmoglein 4 gene DOID:1059 intellectual disability ISO RGD:1348036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 735015 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis IAGP D RGD:1302434|PMID:15081105 20070215 RGD DNA:missense mutation 735015 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis IAGP D RGD:150521562|PMID:15617564 20211110 RGD DNA:missense mutation:exon 8 (rat) 735015 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis IMP D RGD:150521560|PMID:15606503 20211111 RGD 735015 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:1348036 D RGD:1599796|PMID:15191570 20070215 RGD DNA:deletion 735015 Dsg4 desmoglein 4 gene DOID:630 genetic disease ISO RGD:1348036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735015 Dsg4 desmoglein 4 gene DOID:987 alopecia IAGP D RGD:150521562|PMID:15617564 20211110 RGD DNA:missense mutation:exon 8 (rat) 735016 Pcdha1 protocadherin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352837 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735016 Pcdha1 protocadherin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735016 Pcdha1 protocadherin alpha 1 gene DOID:10283 prostate cancer ISO RGD:1352837 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735016 Pcdha1 protocadherin alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1352837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735016 Pcdha1 protocadherin alpha 1 gene DOID:2228 thrombocytosis ISO RGD:1352837 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 735016 Pcdha1 protocadherin alpha 1 gene DOID:630 genetic disease ISO RGD:1352837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735016 Pcdha1 protocadherin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352837 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735016 Pcdha1 protocadherin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735017 Eif5b eukaryotic translation initiation factor 5B gene DOID:630 genetic disease ISO RGD:1353401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735018 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:1600522|PMID:1421379 20150729 RGD DNA:point mutation, deletion: :p.R89C (human) 735018 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:7240710 20130221 OMIM 735018 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte PMID:1421379|PMID:15054810|PMID:152321|PMID:25015942|PMID:2542247|PMID:25741868 735018 Bpgm bisphosphoglycerate mutase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605438 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735018 Bpgm bisphosphoglycerate mutase gene DOID:630 genetic disease ISO RGD:1605438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0050777 Joubert syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 735019 Fut7 fucosyltransferase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 735019 Fut7 fucosyltransferase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353646 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 735019 Fut7 fucosyltransferase 7 gene DOID:1826 epilepsy ISO RGD:1353646 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 735019 Fut7 fucosyltransferase 7 gene DOID:3652 Leigh disease ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 735019 Fut7 fucosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1353646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735019 Fut7 fucosyltransferase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 735020 Qrfp pyroglutamylated RFamide peptide gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 735020 Qrfp pyroglutamylated RFamide peptide gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1606909 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 735020 Qrfp pyroglutamylated RFamide peptide gene DOID:630 genetic disease ISO RGD:1606909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735021 Kifc2 kinesin family member C2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 735021 Kifc2 kinesin family member C2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 735021 Kifc2 kinesin family member C2 gene DOID:4621 holoprosencephaly ISO RGD:1352702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 735021 Kifc2 kinesin family member C2 gene DOID:630 genetic disease ISO RGD:1352702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735024 Gid8 GID complex subunit 8 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 735024 Gid8 GID complex subunit 8 homolog gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 735024 Gid8 GID complex subunit 8 homolog gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 735024 Gid8 GID complex subunit 8 homolog gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 735024 Gid8 GID complex subunit 8 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 735024 Gid8 GID complex subunit 8 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346039 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 735024 Gid8 GID complex subunit 8 homolog gene DOID:630 genetic disease ISO RGD:1346039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735025 Or2y13 olfactory receptor family 2 subfamily Y member 13 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 735025 Or2y13 olfactory receptor family 2 subfamily Y member 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1603468 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735025 Or2y13 olfactory receptor family 2 subfamily Y member 13 gene DOID:630 genetic disease ISO RGD:1603468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735025 Or2y13 olfactory receptor family 2 subfamily Y member 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603468 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735026 Dusp7 dual specificity phosphatase 7 gene DOID:0080600 COVID-19 ISO RGD:1350752 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735026 Dusp7 dual specificity phosphatase 7 gene DOID:630 genetic disease ISO RGD:1350752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735027 Cbx7 chromobox 7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 735027 Cbx7 chromobox 7 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1353483 D RGD:9587355|PMID:22041561 20141008 RGD mRNA:decreased expression::colorectum: 735027 Cbx7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9586729|PMID:19706751 20141003 RGD mRNA,protein:decreased expression:thyroid gland: 735027 Cbx7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9587357|PMID:18701502 20141008 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: 735027 Cbx7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1550491 D RGD:9587357|PMID:18701502 20141008 RGD mRNA:decreased expression:thyroid gland: 735027 Cbx7 chromobox 7 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1550491 D RGD:11352707|PMID:17374722 20160715 RGD 735027 Cbx7 chromobox 7 gene DOID:10283 prostate cancer ISO RGD:1353483 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735027 Cbx7 chromobox 7 gene DOID:10534 stomach cancer disease_progression ISO RGD:1353483 D RGD:9587358|PMID:20723236 20141008 RGD protein:increased expression:stomach: 735027 Cbx7 chromobox 7 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353483 D RGD:9587361|PMID:18984978 20160715 RGD mRNA:decreased expression:urinary bladder (human) 735027 Cbx7 chromobox 7 gene DOID:1612 breast cancer severity ISO RGD:1353483 D RGD:11352704|PMID:25351982 20160715 RGD human gene in a mouse model 735027 Cbx7 chromobox 7 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353483 D RGD:9587361|PMID:18984978 20141008 RGD mRNA:decreased expression:urinary bladder: 735027 Cbx7 chromobox 7 gene DOID:3068 glioblastoma disease_progression ISO RGD:1353483 D RGD:9587354|PMID:24260522 20141008 RGD mRNA,protein:decreased expression:astrocyte: 735027 Cbx7 chromobox 7 gene DOID:3459 breast carcinoma severity ISO RGD:1353483 D RGD:11352698|PMID:21779448 20160715 RGD protein:decreased expression:breast (human) 735027 Cbx7 chromobox 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1353483 D RGD:9587360|PMID:20185297 20141008 RGD protein:decreased expression:pancreas 735027 Cbx7 chromobox 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1353483 D RGD:9587356|PMID:22214847 20141008 RGD mRNA,DNA:decreased expression, loss of heterozygosity:lung: 735027 Cbx7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1353483 D RGD:9587357|PMID:18701502 20141008 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: 735027 Cbx7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1550491 D RGD:9587357|PMID:18701502 20160718 RGD mRNA:decreased expression:thyroid gland (mouse) 735027 Cbx7 chromobox 7 gene DOID:4468 clear cell adenocarcinoma disease_progression ISO RGD:1353483 D RGD:9587359|PMID:24375438 20141008 RGD 735027 Cbx7 chromobox 7 gene DOID:5517 stomach carcinoma ISO RGD:1353483 D RGD:9587355|PMID:22041561 20141008 RGD mRNA:decreased expression:stomach: 735027 Cbx7 chromobox 7 gene DOID:630 genetic disease ISO RGD:1353483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735027 Cbx7 chromobox 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353483 D RGD:9587355|PMID:22041561 20141008 RGD mRNA:decreased expression:liver 735027 Cbx7 chromobox 7 gene DOID:707 B-cell lymphoma ISO RGD:1550491 D RGD:11352707|PMID:17374722 20160715 RGD 735027 Cbx7 chromobox 7 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1353483 D RGD:11352710|PMID:25759796 20160715 RGD protein:decreased expression:thyroid Human) 735027 Cbx7 chromobox 7 gene DOID:8692 myeloid leukemia treatment ISO RGD:1353483 D RGD:11352715|PMID:26343356 20160715 RGD 735027 Cbx7 chromobox 7 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:1353483 D RGD:9587360|PMID:20185297 20141008 RGD protein:decreased expression:pancreas 735027 Cbx7 chromobox 7 gene DOID:9004441 Experimental Leukemia ISO RGD:1550491 D RGD:11352713|PMID:25434821 20160715 RGD 735027 Cbx7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1353483 D RGD:9587356|PMID:22214847 20160718 RGD protein:decreased expression:lung (human) 735027 Cbx7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1550491 D RGD:9587356|PMID:22214847 20141008 RGD 735027 Cbx7 chromobox 7 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1353483 D RGD:9587357|PMID:18701502 20141008 RGD protein:decreased expression:thyroid gland: 735027 Cbx7 chromobox 7 gene DOID:916 liver benign neoplasm ISO RGD:1550491 D RGD:9587356|PMID:22214847 20141008 RGD 735027 Cbx7 chromobox 7 gene DOID:9538 multiple myeloma ISO RGD:1353483 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 735027 Cbx7 chromobox 7 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353483 D RGD:11352716|PMID:23955597 20160715 RGD DNA:snp:intron:c.113+3502C>T (human) (rs877529) 735028 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E gene DOID:0050436 mulibrey nanism ISO RGD:1350294 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:25741868 735028 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E gene DOID:0050777 Joubert syndrome ISO RGD:1350294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 735028 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E gene DOID:630 genetic disease ISO RGD:1350294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735028 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350294 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 735029 Dele1 DAP3 binding cell death enhancer 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735029 Dele1 DAP3 binding cell death enhancer 1 gene DOID:630 genetic disease ISO RGD:1353765 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735029 Dele1 DAP3 binding cell death enhancer 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353765 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735029 Dele1 DAP3 binding cell death enhancer 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735030 Igsf10 immunoglobulin superfamily, member 10 gene DOID:0050579 glycogen storage disease XV ISO RGD:1352652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 735030 Igsf10 immunoglobulin superfamily, member 10 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1352652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 735030 Igsf10 immunoglobulin superfamily, member 10 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352652 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 735030 Igsf10 immunoglobulin superfamily, member 10 gene DOID:630 genetic disease ISO RGD:1352652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735031 Scgb2a1 secretoglobin, family 2A, member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 735031 Scgb2a1 secretoglobin, family 2A, member 1 gene DOID:1059 intellectual disability ISO RGD:1347983 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735031 Scgb2a1 secretoglobin, family 2A, member 1 gene DOID:630 genetic disease ISO RGD:1347983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:0080000 muscular disease ISO RGD:1353540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:0080600 COVID-19 ISO RGD:1353540 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:7240710 20150708 OMIM 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs PMID:24033266|PMID:24336167|PMID:25741868|PMID:27159402|PMID:28492532|PMID:28708303|PMID:29721912|PMID:29987015|PMID:31618753|PMID:32395406|PMID:33428302 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:480 movement disease ISO RGD:1353540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:630 genetic disease ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28708303 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:679 basal ganglia disease ISO RGD:1353540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:8927 learning disability ISO RGD:1353540 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353540 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28708303 735033 Micu1 mitochondrial calcium uptake 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24336167|PMID:25741868|PMID:28492532|PMID:29721912|PMID:33428302 735034 Scin scinderin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350815 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735034 Scin scinderin gene DOID:630 genetic disease ISO RGD:1350815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:7240710 20190315 OMIM 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532|PMID:32860008 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1344124 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:25741868 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344124 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:1825 childhood absence epilepsy ISO RGD:1344124 D RGD:1302591|PMID:14505228 20150113 RGD DNA:point mutation: :c.1914G>A (human) 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:543 dystonia ISO RGD:1344124 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 735035 Lgi4 leucine-rich repeat LGI family, member 4 gene DOID:630 genetic disease ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532 735037 RT1-S3 RT1 class Ib, locus S3 gene DOID:0080820 occupational asthma susceptibility ISO RGD:1353823 D RGD:13506912|PMID:24709764 20180222 RGD DNA:SNP: :rs1573294(human) 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1342982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342982 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1342982 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:630 genetic disease ISO RGD:1342982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342982 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 735038 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342982 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735039 Colec12 collectin sub-family member 12 gene DOID:12849 autistic disorder ISO RGD:1347237 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735039 Colec12 collectin sub-family member 12 gene DOID:303 substance-related disorder ISO RGD:1347237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 735039 Colec12 collectin sub-family member 12 gene DOID:630 genetic disease ISO RGD:1347237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735039 Colec12 collectin sub-family member 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347237 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735039 Colec12 collectin sub-family member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347237 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735040 Cmtm8 CKLF-like MARVEL transmembrane domain containing 8 gene DOID:630 genetic disease ISO RGD:1351246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735041 Pde8b phosphodiesterase 8B gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1348334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18272904 735041 Pde8b phosphodiesterase 8B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 735041 Pde8b phosphodiesterase 8B gene DOID:1289 neurodegenerative disease ISO RGD:1348334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 735041 Pde8b phosphodiesterase 8B gene DOID:630 genetic disease ISO RGD:1348334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735041 Pde8b phosphodiesterase 8B gene DOID:679 basal ganglia disease ISO RGD:1348334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 735041 Pde8b phosphodiesterase 8B gene DOID:9001480 Muscle Rigidity ISO RGD:1348334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 735041 Pde8b phosphodiesterase 8B gene DOID:9001722 Dysarthria ISO RGD:1348334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 735041 Pde8b phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:7240710 20130221 OMIM 735041 Pde8b phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 PMID:24033266|PMID:25741868|PMID:26475694|PMID:26769607|PMID:28492532 735041 Pde8b phosphodiesterase 8B gene DOID:9002955 Nerve Degeneration ISO RGD:1348334 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Striatal Degeneration 735041 Pde8b phosphodiesterase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348334 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735041 Pde8b phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:7240710 20140911 OMIM 735041 Pde8b phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:8554872 20140916 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3 PMID:18272904 735041 Pde8b phosphodiesterase 8B gene DOID:9006845 Striatal Degeneration, Autosomal Dominant ISO RGD:1348334 D RGD:11554173 20190319 CTD CTD Direct Evidence: marker/mechanism 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050451 Brugada syndrome ISO RGD:1345144 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:11075852|PMID:25347427 20220315 RGD DNA:missense mutation:L265P (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:151665120|PMID:28803429 20220311 RGD DNA:mutation:L265P, L265S (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:1345144 D RGD:151665203|PMID:31609782 20220315 RGD DNA:missense mutation:L265P (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1551097 D RGD:150519915|PMID:30063920 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1345144 D RGD:150540307|PMID:28533893 20211231 RGD RNA:decreased expression:colon (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0060058 lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:11554173 20191210 CTD CTD Direct Evidence: marker/mechanism PMID:30126942 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:7240710 20200701 OMIM 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1345144 D RGD:150520167|PMID:31746347 20211101 RGD human cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1345144 D RGD:150519917|PMID:30221070 20211018 RGD mRNA:increased expression:colon (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0080547 non-alcoholic steatohepatitis treatment ISO RGD:1551097 D RGD:150519907|PMID:25790822 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:0080599 Coronavirus infectious disease ISS RGD:1551097 D RGD:13592920 20200730 MouseDO 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:10534 stomach cancer ameliorates ISO RGD:1551097 D RGD:150519918|PMID:23728346 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:10534 stomach cancer onset ISO RGD:1551097 D RGD:150519913|PMID:24166959 20211018 RGD associated with Helicobacter Infections 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:10763 hypertension ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27292124 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:11168 anogenital venereal wart ISO RGD:1345144 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:12253 testicular lymphoma ISO RGD:1345144 D RGD:150524335|PMID:28868954 20211129 RGD associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:1324 lung cancer exacerbates ISO RGD:1345144 D RGD:150521529|PMID:22938463 20211109 RGD human cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:13250 diarrhea ISO RGD:1551097 D RGD:150520020|PMID:20624890 20211021 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:13619 extrahepatic cholestasis ISO RGD:1345144 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:1520 colon carcinoma treatment ISO RGD:1551097 D RGD:150520170|PMID:20823152 20211101 RGD mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:1612 breast cancer exacerbates ISO RGD:1345144 D RGD:150524333|PMID:26596839 20211129 RGD RNA:increased expression:breast (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:1909 melanoma treatment ISO RGD:1551097 D RGD:150520170|PMID:20823152 20211101 RGD mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:2043 hepatitis B ISO RGD:1345144 D RGD:150520169|PMID:28370778 20211101 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:219 colon cancer ameliorates ISO RGD:1551097 D RGD:150520021|PMID:23184679 20211021 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:2326 gastroenteritis treatment ISO RGD:1551097 D RGD:150540308|PMID:31936237 20211231 RGD associated with colorectal adenocarcinoma; mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1345144 D RGD:150521533|PMID:18538140 20211109 RGD human cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:2355 anemia ameliorates ISO RGD:1551097 D RGD:150519908|PMID:17615359 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:2841 asthma ameliorates ISO RGD:1551097 D RGD:11531666|PMID:26882889 20211109 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345144 D RGD:11554173 20200331 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3234 central nervous system lymphoma treatment ISO RGD:1345144 D RGD:151665208|PMID:28619981 20220315 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3459 breast carcinoma ameliorates ISO RGD:1551097 D RGD:150519914|PMID:22088941 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3459 breast carcinoma treatment ISO RGD:1551097 D RGD:150520170|PMID:20823152 20211101 RGD mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345144 D RGD:150519919|PMID:31432177 20211018 RGD protein:increased expression:lung (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1345144 D RGD:150524328|PMID:32010578 20211129 RGD DNA:hypomethylation:promoter (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1551097 D RGD:150540309|PMID:30712876 20211231 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1551097 D RGD:150520172|PMID:32140881 20211101 RGD mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:5041 esophageal cancer ISO RGD:1345144 D RGD:150519911|PMID:24527027 20211018 RGD mRNA:splice variants:esophagus (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:552 pneumonia ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:630 genetic disease ISO RGD:1345144 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:6536 plasma cell neoplasm ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:150520022|PMID:29022910 20211021 RGD mRNA:increased expression:liver (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:150524330|PMID:26985932 20211129 RGD protein:increased expression:liver (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1551097 D RGD:150521532|PMID:17615358 20211109 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:150520169|PMID:28370778 20211101 RGD protein, mRNA:decreased expression:liver (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:150530285|PMID:24603331 20211207 RGD human gene and cell in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:150521534|PMID:33575076 20211109 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment IEP D RGD:150524329|PMID:31068809 20211129 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1345144 D RGD:150524327|PMID:32144747 20211129 RGD human cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551097 D RGD:150524334|PMID:31074165 20211129 RGD mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:7442 monoclonal gammopathy of uncertain significance ISS RGD:1551097 D RGD:13592920 20220616 MouseDO 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:1551097 D RGD:150521530|PMID:25362351 20211109 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9000217 Stomach Neoplasms ameliorates ISO RGD:1551097 D RGD:150519909|PMID:26888865 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9001371 Eosinophilia ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:7240710 20130221 OMIM 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:16199547|PMID:17576681|PMID:18669862|PMID:19506249|PMID:20538326|PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:24316379|PMID:24728327|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31301515|PMID:9536098 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9001642 Intestinal Polyps ameliorates ISO RGD:1551097 D RGD:150519908|PMID:17615359 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9002457 Experimental Arthritis ISO RGD:1551097 D RGD:8552884|PMID:20131263 20140430 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:8552819|PMID:16926427 20140429 RGD associated with Staphylococcal Infections; 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:8662876|PMID:23033384 20140626 RGD associated with Serratia Infections; 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9003571 Paraproteinemias ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:1551097 D RGD:150521531|PMID:26111447 20211109 RGD mouse cell line in a mouse model 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004009 Reperfusion Injury ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004271 Colonic Polyps ISO RGD:1551097 D RGD:150520020|PMID:20624890 20211021 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:1551097 D RGD:150520168|PMID:26712311 20211101 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:1551097 D RGD:150530283|PMID:21519141 20211207 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1551097 D RGD:150521528|PMID:30650348 20211109 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1551097 D RGD:150530281|PMID:29960049 20211207 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9005372 Inflammation ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22053092 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9007346 Cachexia ameliorates ISO RGD:1551097 D RGD:150530282|PMID:31138662 20211207 RGD associated with Carcinoma, Lewis Lung 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ameliorates ISO RGD:1551097 D RGD:150521532|PMID:17615358 20211109 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345144 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9007838 Myocardial Reperfusion Injury IDA D RGD:1302746|PMID:14962484 20090819 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9008114 Helicobacter Infections ISO RGD:1551097 D RGD:150519916|PMID:28201999 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345144 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9008691 Liver Injury disease_progression ISO RGD:1551097 D RGD:150524332|PMID:30770929 20211129 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9009054 Colorectal Cancer 10 ameliorates ISO RGD:1551097 D RGD:150519912|PMID:33177648 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9256 colorectal cancer ameliorates ISO RGD:1551097 D RGD:150519917|PMID:30221070 20211018 RGD 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345144 D RGD:150520171|PMID:24887488 20211101 RGD mRNA:decreased expression:colon (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:150524331|PMID:24154872 20211129 RGD DNA:SNP:promoter: (rs4988453) (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:150524336|PMID:20145615 20211129 RGD protein:increased expression:colonic mucosa (human) 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9498 pulmonary eosinophilia ISO RGD:1345144 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29067999 735043 Myd88 MYD88, innate immune signal transduction adaptor gene DOID:9538 multiple myeloma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 735044 Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:630 genetic disease ISO RGD:1343318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735044 Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:9005369 Hepatomegaly ISO RGD:1343318 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344203 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0060041 autism spectrum disorder ISO RGD:1344203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1344203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0111988 immunodeficiency 12 ISO RGD:1344203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:1059 intellectual disability ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27694961|PMID:28492532|PMID:32117442 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:1344203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18524855|PMID:23348737 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:10892 hypospadias ISO RGD:1551161 D RGD:156431051|PMID:32413360 20230302 RGD protein:decreased expression:urethra 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:11193 syndactyly ISO RGD:1344203 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:12930 dilated cardiomyopathy ISO RGD:1344203 D RGD:8554872 20170808 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:1826 epilepsy ISO RGD:1344203 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:289 endometriosis ISO RGD:1344203 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:674 cleft palate ISO RGD:1344203 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:7240710 20190315 OMIM 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470|PMID:32117442|PMID:32238909 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9007096 Stroke IEP D RGD:6893327|PMID:22417925 20120823 RGD 735047 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9008582 Developmental Disease ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 735048 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351172 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 735048 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1351172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 735048 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:1059 intellectual disability ISO RGD:1351172 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability 735048 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:2570 malignant histiocytic disease ISS RGD:1557599 D RGD:13592920 20200618 MouseDO 735048 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1351172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735049 Dgki diacylglycerol kinase, iota gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343674 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735049 Dgki diacylglycerol kinase, iota gene DOID:630 genetic disease ISO RGD:1343674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735050 Rdh16 retinol dehydrogenase 16 gene DOID:630 genetic disease ISO RGD:1604846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:7240710 20130821 OMIM 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:17273976|PMID:17576681|PMID:23862974|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:9536098 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:7240710 20170823 OMIM 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 PMID:25741868|PMID:28492532|PMID:33624863 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:12849 autistic disorder ISO RGD:1604373 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604373 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:630 genetic disease ISO RGD:1604373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:784 chronic kidney disease ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 735051 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604373 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:0014667 disease of metabolism ISO RGD:1354191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17050691 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:7240710 20130221 OMIM 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIc | ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12359134|PMID:12815589|PMID:15669683|PMID:16199547|PMID:16434667|PMID:16510302|PMID:17060596|PMID:17412732|PMID:17576681|PMID:17584774|PMID:17977044|PMID:18289905|PMID:19249206|PMID:19265687|PMID:19758981|PMID:20023066|PMID:20138856|PMID:20370797|PMID:21088898|PMID:21347544|PMID:21907580|PMID:22013910|PMID:22041377|PMID:22611163|PMID:22664151|PMID:23106979|PMID:23628458|PMID:23700290|PMID:23727839|PMID:23785301|PMID:24190796|PMID:24357026|PMID:24516753|PMID:24522293|PMID:25200064|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25827849|PMID:25913573|PMID:26349199|PMID:26403312|PMID:26409463|PMID:27000805|PMID:27038534|PMID:27060313|PMID:27270537|PMID:27935074|PMID:28083701|PMID:28388738|PMID:28456887|PMID:28468868|PMID:28492532|PMID:28685490|PMID:28899466|PMID:28914566|PMID:28973083|PMID:29249369|PMID:29336361|PMID:29339009|PMID:29376578|PMID:29961769|PMID:29988809|PMID:30022752|PMID:30027710|PMID:30424791|PMID:30477628|PMID:30587156|PMID:30626930|PMID:30904546|PMID:3126856|PMID:31268564|PMID:31331668|PMID:31418342|PMID:31904027|PMID:31997039|PMID:32007756|PMID:32064983|PMID:32393189|PMID:32733732|PMID:32746448|PMID:32793418|PMID:32804429|PMID:32925727|PMID:33000234|PMID:33473335|PMID:33589341|PMID:33823724|PMID:34041209|PMID:34066864|PMID:34573316|PMID:34819910|PMID:35090233|PMID:35309592|PMID:7173260|PMID:7757062|PMID:9536098 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:11372 megacolon ISO RGD:1354191 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354191 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:12377 spinal muscular atrophy ISO RGD:1354191 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:423 myopathy ISO RGD:1354191 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:630 genetic disease ISO RGD:1354191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12359134|PMID:15669683|PMID:16434667|PMID:17412732|PMID:17576681|PMID:22611163|PMID:25741868|PMID:28492532|PMID:29339009|PMID:29376578|PMID:31331668|PMID:32925727|PMID:9536098 735052 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:9970 obesity ISO RGD:1354191 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 735053 RT1-DMa RT1 class II, locus DMa gene DOID:0050553 JMP syndrome ISO RGD:1346716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 735053 RT1-DMa RT1 class II, locus DMa gene DOID:13241 Behcet's disease no_association ISO RGD:1346716 D RGD:1582700|PMID:10375868 20061117 RGD 735053 RT1-DMa RT1 class II, locus DMa gene DOID:2773 contact dermatitis ISO RGD:1346716 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:18348411 735053 RT1-DMa RT1 class II, locus DMa gene DOID:4404 occupational dermatitis ISO RGD:1346716 D RGD:11554173 20170411 CTD CTD Direct Evidence: marker/mechanism PMID:16737583 735053 RT1-DMa RT1 class II, locus DMa gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735055 Pcdha7 protocadherin alpha 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353324 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735055 Pcdha7 protocadherin alpha 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353324 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735055 Pcdha7 protocadherin alpha 7 gene DOID:10283 prostate cancer ISO RGD:1353324 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735055 Pcdha7 protocadherin alpha 7 gene DOID:10487 Hirschsprung's disease ISO RGD:1353324 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735055 Pcdha7 protocadherin alpha 7 gene DOID:2228 thrombocytosis ISO RGD:1353324 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 735055 Pcdha7 protocadherin alpha 7 gene DOID:630 genetic disease ISO RGD:1353324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735055 Pcdha7 protocadherin alpha 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353324 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735055 Pcdha7 protocadherin alpha 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353324 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735057 Rundc3a RUN domain containing 3A gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1605704 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 735057 Rundc3a RUN domain containing 3A gene DOID:630 genetic disease ISO RGD:1605704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735058 Angptl4 angiopoietin-like 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 735058 Angptl4 angiopoietin-like 4 gene DOID:1168 familial hyperlipidemia ISO RGD:1553412 D RGD:1578349|PMID:12401877 19990101 RGD 735058 Angptl4 angiopoietin-like 4 gene DOID:1168 familial hyperlipidemia ISO RGD:1553412 D RGD:1625354|PMID:15837923 20070605 RGD 735058 Angptl4 angiopoietin-like 4 gene DOID:12849 autistic disorder ISO RGD:1344384 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735058 Angptl4 angiopoietin-like 4 gene DOID:305 carcinoma ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 735058 Angptl4 angiopoietin-like 4 gene DOID:3393 coronary artery disease ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 735058 Angptl4 angiopoietin-like 4 gene DOID:630 genetic disease ISO RGD:1344384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735058 Angptl4 angiopoietin-like 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17130448 735058 Angptl4 angiopoietin-like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17130448 735058 Angptl4 angiopoietin-like 4 gene DOID:9003370 Dyslipidemias ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17322881 735058 Angptl4 angiopoietin-like 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:17130448 735058 Angptl4 angiopoietin-like 4 gene DOID:9005369 Hepatomegaly ISO RGD:1553412 D RGD:1625354|PMID:15837923 20070605 RGD 735058 Angptl4 angiopoietin-like 4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1344384 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 735058 Angptl4 angiopoietin-like 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1344384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 735058 Angptl4 angiopoietin-like 4 gene DOID:9452 fatty liver disease ISO RGD:1344384 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 735058 Angptl4 angiopoietin-like 4 gene DOID:9452 fatty liver disease ISO RGD:1553412 D RGD:1625354|PMID:15837923 20070605 RGD 735058 Angptl4 angiopoietin-like 4 gene DOID:9970 obesity ISO RGD:1344384 D RGD:11554173 20171114 CTD CTD Direct Evidence: therapeutic PMID:28842503 735058 Angptl4 angiopoietin-like 4 gene DOID:9970 obesity resistance ISO RGD:1553412 D RGD:1625353|PMID:17210919 20070604 RGD 735059 Tor1aip2 torsin 1A interacting protein 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1604221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 735059 Tor1aip2 torsin 1A interacting protein 2 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1604221 D RGD:8554872 20160913 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:24856141|PMID:25193337 735059 Tor1aip2 torsin 1A interacting protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604221 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735059 Tor1aip2 torsin 1A interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735059 Tor1aip2 torsin 1A interacting protein 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604221 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 735059 Tor1aip2 torsin 1A interacting protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604221 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735060 Mpped2 metallophosphoesterase domain containing 2 gene DOID:10024 migraine with aura ISO RGD:1347972 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 735060 Mpped2 metallophosphoesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1347972 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735060 Mpped2 metallophosphoesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1347972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735061 Myh1 myosin heavy chain 1 gene DOID:0080719 proximal myopathy and ophthalmoplegia ISO RGD:1350148 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 735061 Myh1 myosin heavy chain 1 gene DOID:630 genetic disease ISO RGD:1350148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735062 Tmem132d transmembrane protein 132D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 735062 Tmem132d transmembrane protein 132D gene DOID:5409 lung small cell carcinoma ISO RGD:1606177 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 735062 Tmem132d transmembrane protein 132D gene DOID:630 genetic disease ISO RGD:1606177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735062 Tmem132d transmembrane protein 132D gene DOID:9007188 Liver Neoplasms ISO RGD:1606177 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 735063 Necap2 NECAP endocytosis associated 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603996 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 735063 Necap2 NECAP endocytosis associated 2 gene DOID:10283 prostate cancer ISO RGD:1603996 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735063 Necap2 NECAP endocytosis associated 2 gene DOID:630 genetic disease ISO RGD:1603996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735064 Kpna1 karyopherin subunit alpha 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 735064 Kpna1 karyopherin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1347998 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 735064 Kpna1 karyopherin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735064 Kpna1 karyopherin subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347998 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 735064 Kpna1 karyopherin subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 735065 RGD735065 similar to GI:13385412-like protein splice form I gene DOID:0050553 JMP syndrome ISO RGD:1348833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 735065 RGD735065 similar to GI:13385412-like protein splice form I gene DOID:630 genetic disease ISO RGD:1348833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735066 Mal2 mal, T-cell differentiation protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1348409 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 735066 Mal2 mal, T-cell differentiation protein 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1348409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 735066 Mal2 mal, T-cell differentiation protein 2 gene DOID:630 genetic disease ISO RGD:1348409 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735068 Serpina3m serpin family A member 3M gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1343168 D RGD:36947868|PMID:29142239 20200805 RGD mRNA,protein:increased expression:frontal cortex: 735068 Serpina3m serpin family A member 3M gene DOID:11949 Creutzfeldt-Jakob disease disease_progression ISO RGD:1618836 D RGD:36947868|PMID:29142239 20200805 RGD 735069 Nme8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:7240710 20130425 OMIM 735069 Nme8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:16199547|PMID:17360648|PMID:17576681|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 735069 Nme8 NME/NM23 family member 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344206 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735069 Nme8 NME/NM23 family member 8 gene DOID:630 genetic disease ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735069 Nme8 NME/NM23 family member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17360648|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532 735070 Nfkbie NFKB inhibitor epsilon gene DOID:1909 melanoma ISO RGD:1352834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26343386 735070 Nfkbie NFKB inhibitor epsilon gene DOID:630 genetic disease ISO RGD:1352834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735070 Nfkbie NFKB inhibitor epsilon gene DOID:7148 rheumatoid arthritis ISO RGD:1352834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 735070 Nfkbie NFKB inhibitor epsilon gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352834 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735072 Wdr12 WD repeat domain 12 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735072 Wdr12 WD repeat domain 12 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735072 Wdr12 WD repeat domain 12 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25915632 735072 Wdr12 WD repeat domain 12 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 735072 Wdr12 WD repeat domain 12 gene DOID:3393 coronary artery disease ISO RGD:1353160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 735072 Wdr12 WD repeat domain 12 gene DOID:5844 myocardial infarction ISO RGD:1353160 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:25915632 735072 Wdr12 WD repeat domain 12 gene DOID:630 genetic disease ISO RGD:1353160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735072 Wdr12 WD repeat domain 12 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353160 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 735072 Wdr12 WD repeat domain 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353160 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735072 Wdr12 WD repeat domain 12 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735073 Dld dihydrolipoamide dehydrogenase gene DOID:0112230 lissencephaly 5 ISO RGD:1348290 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:25741868|PMID:28492532 735073 Dld dihydrolipoamide dehydrogenase gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1348290 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 735073 Dld dihydrolipoamide dehydrogenase gene DOID:3652 Leigh disease ISO RGD:1348290 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 735073 Dld dihydrolipoamide dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348290 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735073 Dld dihydrolipoamide dehydrogenase gene DOID:630 genetic disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11186938|PMID:11687750|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:18362926|PMID:20672374|PMID:21558426|PMID:21930696|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25741868|PMID:27144126|PMID:27290639|PMID:27544700|PMID:28492532|PMID:9540846|PMID:9934985 735073 Dld dihydrolipoamide dehydrogenase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 735073 Dld dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:7240710 20141015 OMIM 735073 Dld dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 PMID:10448086|PMID:11186938|PMID:11687750|PMID:12925875|PMID:1347528|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16199547|PMID:1640293|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:17404228|PMID:17576681|PMID:18362926|PMID:20652410|PMID:20672374|PMID:21558426|PMID:21930696|PMID:21996136|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25251739|PMID:25356417|PMID:25741868|PMID:25741884|PMID:27144126|PMID:27290639|PMID:27544700|PMID:27896107|PMID:28492532|PMID:31334547|PMID:31683770|PMID:33092611|PMID:33306821|PMID:3769994|PMID:7797549|PMID:8506365|PMID:8652022|PMID:8968745|PMID:9298831|PMID:9536098|PMID:9540846|PMID:9934985 735073 Dld dihydrolipoamide dehydrogenase gene DOID:9269 maple syrup urine disease ISO RGD:1348290 D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:7240710 20190315 OMIM 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32038177|PMID:32773162 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1351112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:1826 epilepsy ISO RGD:1351112 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:32038177 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1351112 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32773162 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1351112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KCNT2-related condition PMID:25741868|PMID:29069600 735074 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351112 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735075 Gask1b golgi associated kinase 1B gene DOID:0080600 COVID-19 ISO RGD:1605394 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735075 Gask1b golgi associated kinase 1B gene DOID:630 genetic disease ISO RGD:1605394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735075 Gask1b golgi associated kinase 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735076 Zbtb25 zinc finger and BTB domain containing 25 gene DOID:627 severe combined immunodeficiency ISO RGD:1344853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 735076 Zbtb25 zinc finger and BTB domain containing 25 gene DOID:630 genetic disease ISO RGD:1344853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:0060163 body dysmorphic disorder ISO RGD:1352441 D RGD:8554872 20171205 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:1059 intellectual disability ISO RGD:1352441 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:10907 microcephaly ISO RGD:1352441 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:1826 epilepsy ISO RGD:1352441 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:1923 disorder of sexual development ISO RGD:1352441 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:630 genetic disease ISO RGD:1352441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:9000495 Tremor ISO RGD:1352441 D RGD:8554872 20150310 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 735077 Gprc6a G protein-coupled receptor, class C, group 6, member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 735078 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1605997 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 735078 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 735078 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:1059 intellectual disability ISO RGD:1605997 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735078 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:630 genetic disease ISO RGD:1605997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:0050777 Joubert syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:0081097 Rafiq syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:1826 epilepsy ISO RGD:1353400 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:630 genetic disease ISO RGD:1353400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735079 Zmynd19 zinc finger, MYND-type containing 19 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 735080 Cfdp1 craniofacial development protein 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1346060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 735080 Cfdp1 craniofacial development protein 1 gene DOID:607 paraplegia ISO RGD:1346060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 735080 Cfdp1 craniofacial development protein 1 gene DOID:630 genetic disease ISO RGD:1346060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735081 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 735081 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:7240710 20130221 OMIM 735081 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:16950819|PMID:17389303|PMID:17952067|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:19322595|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:22815132|PMID:23317923|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:29431110|PMID:29588937|PMID:29655203|PMID:30701169|PMID:31227012|PMID:31758957|PMID:31858178 735081 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12958597|PMID:15781812|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:17952067|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:31227012 735081 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 735081 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:9002113 Progressive Myoclonic Epilepsy 2B ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16134145|PMID:16311711|PMID:16529633|PMID:16950819|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22815132|PMID:25270369|PMID:25683376|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28556688|PMID:29431110|PMID:31227012|PMID:31758957|PMID:31858178 735082 Oit3 oncoprotein induced transcript 3 gene DOID:10283 prostate cancer ISO RGD:1345970 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 735082 Oit3 oncoprotein induced transcript 3 gene DOID:630 genetic disease ISO RGD:1345970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735082 Oit3 oncoprotein induced transcript 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345970 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1353919 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353919 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:28388406|PMID:32538895 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome susceptibility ISO RGD:1353919 D RGD:7240710 20220824 OMIM 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28388406|PMID:32538895 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1353919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1353919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 735083 Cry1 cryptochrome circadian regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353919 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735084 Megf10 multiple EGF-like domains 10 gene DOID:0080000 muscular disease ISO RGD:1601732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 735084 Megf10 multiple EGF-like domains 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735084 Megf10 multiple EGF-like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:7240710 20140911 OMIM 735084 Megf10 multiple EGF-like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10B, MILD VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset PMID:16199547|PMID:17236770|PMID:17576681|PMID:22101682|PMID:22371254|PMID:23453856|PMID:23954233|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26802438|PMID:27460346|PMID:28492532|PMID:28498977|PMID:29128256|PMID:31127727|PMID:31501239|PMID:36349186|PMID:9536098 735084 Megf10 multiple EGF-like domains 10 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1601732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 735084 Megf10 multiple EGF-like domains 10 gene DOID:630 genetic disease ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735084 Megf10 multiple EGF-like domains 10 gene DOID:9000123 Deglutition Disorders ISO RGD:1601732 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 735084 Megf10 multiple EGF-like domains 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601732 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735084 Megf10 multiple EGF-like domains 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735085 Tp53inp2 tumor protein p53 inducible nuclear protein 2 gene DOID:2843 long QT syndrome ISO RGD:1352381 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 735085 Tp53inp2 tumor protein p53 inducible nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1352381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735087 Spata20 spermatogenesis associated 20 gene DOID:0070311 oligoasthenoteratozoospermia ISS RGD:1623815 D RGD:13592920 20190314 MouseDO 735087 Spata20 spermatogenesis associated 20 gene DOID:630 genetic disease ISO RGD:1603970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735088 Flcn folliculin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12204536|PMID:12471204|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21538689|PMID:21937013|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24393238|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 735088 Flcn folliculin gene DOID:0050387 nonpapillary renal cell carcinoma ISS RGD:1615711 D RGD:13592920 20180518 MouseDO OMIM:144700 735088 Flcn folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:12204536|PMID:24726356|PMID:27072130 735088 Flcn folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:1598946|PMID:12204536 20070105 RGD DNA:mutations:multiple (human) 735088 Flcn folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:7240710 20130221 OMIM 735088 Flcn folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome | ClinVar Annotator: match by term: Fibrofolliculomas with trichodiscomas and acrochordons | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19801896|PMID:19802896|PMID:19850877|PMID:20188345|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21412933|PMID:21506000|PMID:21520333|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22382802|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23052100|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23414156|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24297131|PMID:24346394|PMID:24393238|PMID:24728327|PMID:24910976|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25807935|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26342594|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26689913|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28724667|PMID:28785590|PMID:28805452|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29720200|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30923304|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33482948|PMID:33927747|PMID:34008892|PMID:34067022|PMID:34229741|PMID:34604083|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 735088 Flcn folliculin gene DOID:0050777 Joubert syndrome ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 735088 Flcn folliculin gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1604509 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism 735088 Flcn folliculin gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Duplication 17p11.2 syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) PMID:12204536|PMID:12471204|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21538689|PMID:21937013|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24393238|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28837307|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 735088 Flcn folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:7240710 20180523 OMIM 735088 Flcn folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pneumothorax, primary spontaneous PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23264078|PMID:23757202|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28007907|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 735088 Flcn folliculin gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 735088 Flcn folliculin gene DOID:12849 autistic disorder ISO RGD:1604509 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735088 Flcn folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19457309|PMID:19802896|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:28492532|PMID:28558743 735088 Flcn folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19116017|PMID:19457309|PMID:19562744|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28558743 735088 Flcn folliculin gene DOID:1673 pneumothorax ISO RGD:1604509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12204536 735088 Flcn folliculin gene DOID:1673 pneumothorax ISO RGD:1604509 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Spontaneous pneumothorax PMID:25741868|PMID:28492532 735088 Flcn folliculin gene DOID:2394 ovarian cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30548481 735088 Flcn folliculin gene DOID:4450 renal cell carcinoma IAGP D RGD:1302869|PMID:14769940 20070105 RGD 735088 Flcn folliculin gene DOID:4450 renal cell carcinoma ISO RGD:1604509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12204536 735088 Flcn folliculin gene DOID:4450 renal cell carcinoma ISO RGD:1604509 D RGD:7240710 20130221 OMIM 735088 Flcn folliculin gene DOID:4450 renal cell carcinoma treatment IMP D RGD:13605606|PMID:16369488 20180606 RGD 735088 Flcn folliculin gene DOID:4851 pilocytic astrocytoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:15852235|PMID:16199547|PMID:25741868|PMID:28492532 735088 Flcn folliculin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604509 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 735088 Flcn folliculin gene DOID:6245 renal oncocytoma ISO RGD:1604509 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12204536 735088 Flcn folliculin gene DOID:630 genetic disease ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735088 Flcn folliculin gene DOID:687 hepatoblastoma ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:35495172 735088 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25594584|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30580288|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:9536098 735088 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35495172|PMID:35691222|PMID:9536098 735088 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 735088 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:34604083|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 735088 Flcn folliculin gene DOID:9007188 Liver Neoplasms ISO RGD:1604509 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 735088 Flcn folliculin gene DOID:9007253 Hamartoma ISO RGD:1604509 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:12204536|PMID:27072130 735088 Flcn folliculin gene DOID:9007583 Cysts ISO RGD:1604509 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27072130 735088 Flcn folliculin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604509 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism 735088 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:7240710 20200226 OMIM 735088 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:34008892 735088 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 735088 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 735088 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 735088 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:0060041 autism spectrum disorder ISS RGD:1618248 D RGD:13592920 20220331 MouseDO 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:0060764 autosomal recessive Robinow syndrome ISS RGD:1618248 D RGD:13592920 20180518 MouseDO OMIM:268310 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1346789 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:7240710 20160113 OMIM 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:17576681|PMID:18414213|PMID:18976727|PMID:20301774|PMID:21276947|PMID:21901791|PMID:24689077|PMID:25741868|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29790814|PMID:30564977|PMID:31035234|PMID:31875159|PMID:32214227|PMID:9536098 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:1059 intellectual disability ISO RGD:1346789 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:11832 visual epilepsy IEP D RGD:9686146|PMID:21905079 20150203 RGD protein:increased expression:hippocampus: 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:12583 velocardiofacial syndrome ISS RGD:1618248 D RGD:13592920 20180518 MouseDO OMIM:192430 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:2234 focal epilepsy ISO RGD:1346789 D RGD:8554872 20201215 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:3328 temporal lobe epilepsy treatment IMP D RGD:9686146|PMID:21905079 20150203 RGD protein:increased expression:hippocampus: 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1346789 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1346789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:20301774|PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:30564977|PMID:9536098 735090 Prickle1 prickle planar cell polarity protein 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 735092 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1353070 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735092 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:543 dystonia ISO RGD:1353070 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dystonic disorder 735092 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735092 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1353070 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 735092 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 735092 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1353070 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352041 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:7240710 20140911 OMIM 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:17576681|PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25326635|PMID:25497877|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28251916|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:28883039|PMID:29273277|PMID:29528393|PMID:30373780|PMID:31561939|PMID:32056343|PMID:32057122|PMID:32581362|PMID:33060286|PMID:8114789|PMID:9536098|PMID:9713859 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:7240710 20200325 OMIM 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant PMID:25741868|PMID:27751653|PMID:28492532|PMID:28635954|PMID:30054298 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1352041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:28492532 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0080000 muscular disease ISO RGD:1352041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 735093 Bicd2 BICD cargo adaptor 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25497877|PMID:25741868|PMID:26467025|PMID:27549087|PMID:27784775|PMID:28251916|PMID:28492532|PMID:28832565|PMID:32581362|PMID:8114789 735093 Bicd2 BICD cargo adaptor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352041 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25802885|PMID:28492532 735093 Bicd2 BICD cargo adaptor 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1352041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:25497877|PMID:25741868|PMID:27784775|PMID:28251916|PMID:28492532|PMID:8114789 735093 Bicd2 BICD cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1352041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30054298 735093 Bicd2 BICD cargo adaptor 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352041 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23664116|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:28832565 735093 Bicd2 BICD cargo adaptor 2 gene DOID:423 myopathy ISO RGD:1352041 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 735093 Bicd2 BICD cargo adaptor 2 gene DOID:607 paraplegia ISO RGD:1352041 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26998597|PMID:28492532 735093 Bicd2 BICD cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23664116|PMID:23664120|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:29528393|PMID:30054298|PMID:30373780|PMID:32056343|PMID:9536098|PMID:9713859 735093 Bicd2 BICD cargo adaptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352041 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735093 Bicd2 BICD cargo adaptor 2 gene DOID:9005324 Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration ISO RGD:1352041 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION PMID:25741868|PMID:28492532 735094 Srr serine racemase gene DOID:3910 lung adenocarcinoma ISO RGD:1352406 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735094 Srr serine racemase gene DOID:5419 schizophrenia ISS RGD:1550738 D RGD:13592920 20180518 MouseDO OMIM:181500 735094 Srr serine racemase gene DOID:630 genetic disease ISO RGD:1352406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735094 Srr serine racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352406 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735094 Srr serine racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352406 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735094 Srr serine racemase gene DOID:9006205 Animal Disease Models ISO RGD:1352406 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735096 RT1-DMb RT1 class II, locus DMb gene DOID:0050553 JMP syndrome ISO RGD:1349438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 735096 RT1-DMb RT1 class II, locus DMb gene DOID:13241 Behcet's disease no_association ISO RGD:1349438 D RGD:1582700|PMID:10375868 20061117 RGD 735096 RT1-DMb RT1 class II, locus DMb gene DOID:9001573 Experimental Liver Cirrhosis EXP D RGD:11554173 20180130 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735097 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1346736 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 735097 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346736 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 735097 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:11372 megacolon ISO RGD:1346736 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 735097 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:2843 long QT syndrome ISO RGD:1346736 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 735097 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:630 genetic disease ISO RGD:1346736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735098 Flvcr2 FLVCR heme transporter 2 gene DOID:0080600 COVID-19 ISO RGD:1352163 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735098 Flvcr2 FLVCR heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:7240710 20130425 OMIM 735098 Flvcr2 FLVCR heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PMID:19635601|PMID:20206334|PMID:20518025|PMID:20690116|PMID:24033266|PMID:25677735|PMID:25741868|PMID:28492532|PMID:32369449 735098 Flvcr2 FLVCR heme transporter 2 gene DOID:1059 intellectual disability ISO RGD:1352163 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 735098 Flvcr2 FLVCR heme transporter 2 gene DOID:630 genetic disease ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33981013 735098 Flvcr2 FLVCR heme transporter 2 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:20206334|PMID:20518025|PMID:25741868|PMID:28492532 735099 Hp1bp3 heterochromatin protein 1, binding protein 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 735099 Hp1bp3 heterochromatin protein 1, binding protein 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 735099 Hp1bp3 heterochromatin protein 1, binding protein 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 735099 Hp1bp3 heterochromatin protein 1, binding protein 3 gene DOID:630 genetic disease ISO RGD:1606796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735099 Hp1bp3 heterochromatin protein 1, binding protein 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 735100 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:0111041 glycogen storage disease IXb ISO RGD:1342698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 735100 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:4961 bone marrow disease ISO RGD:1342698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 735100 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:630 genetic disease ISO RGD:1342698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735100 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342698 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0050777 Joubert syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0081097 Rafiq syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:7240710 20190315 OMIM 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis with early-onset deafness PMID:25741868|PMID:29198720 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:1826 epilepsy ISO RGD:1601774 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 735101 Tubb4b tubulin, beta 4B class IVb gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1601774 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 735102 Mybpc1 myosin binding protein C1 gene DOID:0050646 distal arthrogryposis ISO RGD:1351602 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 735102 Mybpc1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:7240710 20140911 OMIM 735102 Mybpc1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 PMID:18414213|PMID:22610851|PMID:25741868 735102 Mybpc1 myosin binding protein C1 gene DOID:0080100 congenital myopathy ISS RGD:1550682 D RGD:13592920 20220407 MouseDO OMIM:255300 735102 Mybpc1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:7240710 20140903 OMIM 735102 Mybpc1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B PMID:18414213|PMID:20045868|PMID:22415774|PMID:23657818|PMID:23873045|PMID:25741868|PMID:26287277|PMID:28492532 735102 Mybpc1 myosin binding protein C1 gene DOID:630 genetic disease ISO RGD:1351602 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 735102 Mybpc1 myosin binding protein C1 gene DOID:9004398 Congenital Myopathy 16 ISO RGD:1351602 D RGD:7240710 20191016 OMIM 735102 Mybpc1 myosin binding protein C1 gene DOID:9004398 Congenital Myopathy 16 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with tremor PMID:18414213|PMID:22610851|PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605350 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:0080195 Marinesco-Sjogren syndrome ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:10665502|PMID:12692552|PMID:16199547|PMID:16282977|PMID:16282978|PMID:17026626|PMID:17309654|PMID:17576681|PMID:18285827|PMID:19471582|PMID:20111056|PMID:21873089|PMID:22995991|PMID:23062754|PMID:23829326|PMID:24176978|PMID:24473200|PMID:24631270|PMID:24755310|PMID:25741868|PMID:26467025|PMID:26733775|PMID:28492532|PMID:31130284|PMID:31258504|PMID:32502767|PMID:32552793|PMID:33250842|PMID:9536098 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:0080600 COVID-19 ISO RGD:1605350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1605350 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:19471582|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31258504|PMID:33250842 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:83 cataract ISO RGD:1605350 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cataract PMID:32581362 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605350 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605350 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1605350 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 735103 Sil1 SIL1 nucleotide exchange factor gene DOID:9277 primary cerebellar degeneration ISO RGD:1605350 D RGD:7240710 20130221 OMIM 735104 Get1 guided entry of tail-anchored proteins factor 1 gene DOID:12849 autistic disorder ISO RGD:1352136 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735104 Get1 guided entry of tail-anchored proteins factor 1 gene DOID:630 genetic disease ISO RGD:1352136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735104 Get1 guided entry of tail-anchored proteins factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352136 D RGD:11554173 20200114 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735105 Rpl3 ribosomal protein L3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 735105 Rpl3 ribosomal protein L3 gene DOID:305 carcinoma ISO RGD:1345939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 735105 Rpl3 ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1345939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735105 Rpl3 ribosomal protein L3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 735105 Rpl3 ribosomal protein L3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345939 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 735106 Ccdc127 coiled-coil domain containing 127 gene DOID:630 genetic disease ISO RGD:1603363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735108 Serpinb6a serpin family B member 6A gene DOID:0050439 Usher syndrome ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:28492532|PMID:30311386 735108 Serpinb6a serpin family B member 6A gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:7240710 20170621 OMIM 735108 Serpinb6a serpin family B member 6A gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 PMID:17576681|PMID:20451170|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 735108 Serpinb6a serpin family B member 6A gene DOID:630 genetic disease ISO RGD:1348161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 735108 Serpinb6a serpin family B member 6A gene DOID:9004538 Hearing Loss ISO RGD:1348161 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 735108 Serpinb6a serpin family B member 6A gene DOID:9004657 Weight Gain ISO RGD:1552475 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 735109 Unc5c unc-5 netrin receptor C gene DOID:4450 renal cell carcinoma ISO RGD:1347353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21600761 735109 Unc5c unc-5 netrin receptor C gene DOID:630 genetic disease ISO RGD:1347353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735110 Ica1l islet cell autoantigen 1-like gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735110 Ica1l islet cell autoantigen 1-like gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735110 Ica1l islet cell autoantigen 1-like gene DOID:14557 primary pulmonary hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 735110 Ica1l islet cell autoantigen 1-like gene DOID:3393 coronary artery disease ISO RGD:1346474 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 735110 Ica1l islet cell autoantigen 1-like gene DOID:630 genetic disease ISO RGD:1346474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735110 Ica1l islet cell autoantigen 1-like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346474 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 735110 Ica1l islet cell autoantigen 1-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346474 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735110 Ica1l islet cell autoantigen 1-like gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735111 Babam2 BRISC and BRCA1 A complex member 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 735111 Babam2 BRISC and BRCA1 A complex member 2 gene DOID:10283 prostate cancer ISO RGD:1343026 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735111 Babam2 BRISC and BRCA1 A complex member 2 gene DOID:630 genetic disease ISO RGD:1343026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:630 genetic disease ISO RGD:1351796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351796 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:9263 homocystinuria ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 735112 C2cd2 C2 calcium-dependent domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 735113 Sgsm3 small G protein signaling modulator 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 735113 Sgsm3 small G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1353613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735114 Adam32 ADAM metallopeptidase domain 32 gene DOID:630 genetic disease ISO RGD:1345583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735115 Col27a1 collagen type XXVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735115 Col27a1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:7240710 20150617 OMIM 735115 Col27a1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Steel syndrome PMID:16199547|PMID:24986830|PMID:25741868|PMID:28276056|PMID:28322503|PMID:28492532|PMID:28895531|PMID:31903681|PMID:31913554 735116 Commd3 COMM domain containing 3 gene DOID:630 genetic disease ISO RGD:1349755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735117 Slc16a6 solute carrier family 16, member 6 gene DOID:289 endometriosis ISO RGD:1343675 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 735117 Slc16a6 solute carrier family 16, member 6 gene DOID:630 genetic disease ISO RGD:1343675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735118 Lcmt1 leucine carboxyl methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735118 Lcmt1 leucine carboxyl methyltransferase 1 gene DOID:9004994 Embryo Loss ISO RGD:1351587 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17724024 735119 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348353 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 735119 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:630 genetic disease ISO RGD:1348353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735119 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735119 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348353 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 735120 Tmub1 transmembrane and ubiquitin-like domain containing 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 735120 Tmub1 transmembrane and ubiquitin-like domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1349176 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 735120 Tmub1 transmembrane and ubiquitin-like domain containing 1 gene DOID:630 genetic disease ISO RGD:1349176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735121 Fpgt fucose-1-phosphate guanylyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1342569 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 735121 Fpgt fucose-1-phosphate guanylyltransferase gene DOID:630 genetic disease ISO RGD:1342569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:7240710 20130221 OMIM 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 PMID:11113072|PMID:17576681|PMID:17786112|PMID:19185281|PMID:20009592|PMID:23689399|PMID:24142340|PMID:25741868|PMID:28492532|PMID:30445423|PMID:9536098 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:0080074 neural tube defect ISO RGD:1351424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1552601 D RGD:10043111|PMID:21898507 20150514 RGD mRNA:increased expression:liver: 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:13580 cholestasis ISO RGD:1552601 D RGD:10043111|PMID:21898507 20150514 RGD mRNA:increased expression:liver: 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:13608 biliary atresia ISO RGD:1351424 D RGD:10043111|PMID:21898507 20150514 RGD mRNA,protein:increased expression:liver: 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:305 carcinoma ISO RGD:1351424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:630 genetic disease ISO RGD:1351424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:780 placenta disease ISO RGD:1351424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1351424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 735123 Spint2 serine peptidase inhibitor, Kunitz type, 2 gene DOID:9007023 Prenatal Injuries ISO RGD:1351424 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:7240710 20130221 OMIM 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22304930|PMID:22492991|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25326635|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080690 RASopathy ISO RGD:1349923 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349923 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349923 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:7240710 20140911 OMIM 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3133 acute porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1349923 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3890 acute intermittent porphyria ISO RGD:1349923 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:18414213|PMID:25741868|PMID:28492532 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:12872255|PMID:18414213|PMID:22304930|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5419 schizophrenia ISO RGD:1349923 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358|PMID:9536098 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000918 Disease Progression ISO RGD:1349923 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349923 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9007661 Dwarfism ISO RGD:1349923 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 735124 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349923 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 735125 Pde8a phosphodiesterase 8A gene DOID:2717 Bloom syndrome ISO RGD:1601777 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 735125 Pde8a phosphodiesterase 8A gene DOID:630 genetic disease ISO RGD:1601777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735125 Pde8a phosphodiesterase 8A gene DOID:9256 colorectal cancer ISO RGD:1601777 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 735126 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 735126 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1349900 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 735126 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 735126 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 735126 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735127 Psmd6 proteasome 26S subunit, non-ATPase 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 735127 Psmd6 proteasome 26S subunit, non-ATPase 6 gene DOID:630 genetic disease ISO RGD:1351950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735127 Psmd6 proteasome 26S subunit, non-ATPase 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351950 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 735129 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:1909 melanoma ISO RGD:1347888 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 735129 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:630 genetic disease ISO RGD:1347888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735129 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347888 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 735129 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347888 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735131 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1059 intellectual disability ISO RGD:1343433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 735131 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1826 epilepsy ISO RGD:1343433 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 735131 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:630 genetic disease ISO RGD:1343433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735131 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 735132 Sectm1b secreted and transmembrane 1B gene DOID:630 genetic disease ISO RGD:1314321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735133 Plekha4 pleckstrin homology domain containing A4 gene DOID:10283 prostate cancer ISO RGD:1346745 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735133 Plekha4 pleckstrin homology domain containing A4 gene DOID:630 genetic disease ISO RGD:1346745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0050590 severe congenital neutropenia ISO RGD:1603702 D RGD:8554872 20160119 ClinVar ClinVar Annotator: match by term: Congenital neutropenia PMID:24753205 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603702 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1603702 D RGD:8554872 20160712 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:24753205 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:1599350|PMID:10888887 20070130 RGD DNA:deletions, snps:exons:multiple (human) 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:7240710 20130221 OMIM 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive PMID:10888887|PMID:10942435|PMID:11532986|PMID:12507890|PMID:12552563|PMID:12566520|PMID:14675409|PMID:15300850|PMID:16199547|PMID:16840787|PMID:17576681|PMID:18715141|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:22231430|PMID:23412864|PMID:23721911|PMID:24033266|PMID:24101165|PMID:24108692|PMID:24535484|PMID:24753205|PMID:24989235|PMID:25018813|PMID:25326635|PMID:25525159|PMID:25741868|PMID:25829125|PMID:26264438|PMID:26777052|PMID:27229898|PMID:28492532|PMID:28604959|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30537558|PMID:30539151|PMID:30898715|PMID:31319225|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502|PMID:9506970|PMID:9536098 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603702 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:1059 intellectual disability ISO RGD:1603702 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:11836 clubfoot ISS RGD:1552412 D RGD:13592920 20180518 MouseDO OMIM:119800 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:13533 osteopetrosis ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:10888887|PMID:10942435|PMID:11532986|PMID:12552563|PMID:15300850|PMID:16199547|PMID:16840787|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:23721911|PMID:24033266|PMID:24535484|PMID:24753205|PMID:25326635|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30539151|PMID:30898715|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:3652 Leigh disease ISO RGD:1603702 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Leigh syndrome 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:4254 osteosclerosis ISO RGD:1603702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:22231430|PMID:24033266|PMID:25741868|PMID:26264438|PMID:28492532 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:630 genetic disease ISO RGD:1603702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942435|PMID:15300850|PMID:17576681|PMID:19507210|PMID:24989235|PMID:25741868|PMID:28492532|PMID:9536098 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 735136 Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 735137 Panx3 pannexin 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 735137 Panx3 pannexin 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351582 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 735137 Panx3 pannexin 3 gene DOID:5419 schizophrenia ISO RGD:1351582 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 735137 Panx3 pannexin 3 gene DOID:630 genetic disease ISO RGD:1351582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735137 Panx3 pannexin 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351582 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 735137 Panx3 pannexin 3 gene DOID:9007661 Dwarfism ISO RGD:1351582 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 735138 Tlr2 toll-like receptor 2 gene DOID:0050073 invasive aspergillosis ISO RGD:1551003 D RGD:8553022|PMID:16113258 20140505 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:0050127 sinusitis ISO RGD:1353654 D RGD:8552991|PMID:14743629 20140502 RGD mRNA:increased expression:nasal cavity epithelium: 735138 Tlr2 toll-like receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15505089 735138 Tlr2 toll-like receptor 2 gene DOID:0050855 renal fibrosis IMP D RGD:7207895|PMID:22777483 20130212 RGD associated with Ureteral Obstruction 735138 Tlr2 toll-like receptor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353654 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 735138 Tlr2 toll-like receptor 2 gene DOID:0060189 ileitis IMP D RGD:2312714|PMID:18266231 20140501 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:1353654 D RGD:8552974|PMID:19167648 20140501 RGD protein:increased expression:monocyte: 735138 Tlr2 toll-like receptor 2 gene DOID:0060322 mastoiditis ISO RGD:1353654 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 735138 Tlr2 toll-like receptor 2 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1551003 D RGD:7794851|PMID:17686871 20140114 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1353654 D RGD:7800668|PMID:23691182 20140115 RGD DNA:haplotype: :2477G>A(rs5743708)(human) 735138 Tlr2 toll-like receptor 2 gene DOID:0080547 non-alcoholic steatohepatitis ISO RGD:1551003 D RGD:15090806|PMID:29482933 20191219 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:1353654 D RGD:7240561|PMID:18001294 20130215 RGD DNA:polymorphism: :p.R753Q (human) 735138 Tlr2 toll-like receptor 2 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:2312724|PMID:16524509 20090901 RGD mRNA:increased expression:liver 735138 Tlr2 toll-like receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1353654 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Turcot syndrome PMID:25741868 735138 Tlr2 toll-like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1353654 D RGD:8552821|PMID:22025895 20140429 RGD associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell: 735138 Tlr2 toll-like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1551003 D RGD:8552916|PMID:23372055 20140501 RGD mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland: 735138 Tlr2 toll-like receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1353654 D RGD:7794747|PMID:19953283 20140109 RGD mRNA,protein:increased expression:muscle 735138 Tlr2 toll-like receptor 2 gene DOID:1024 leprosy ISO RGD:1353654 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 735138 Tlr2 toll-like receptor 2 gene DOID:1024 leprosy ISO RGD:1353654 D RGD:8553055|PMID:18177245 20140506 RGD DNA:polymorphisms:microsatellite,597C>T(human) 735138 Tlr2 toll-like receptor 2 gene DOID:1024 leprosy ISO RGD:1353654 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 PMID:11476982|PMID:12646604|PMID:15726416|PMID:19111445|PMID:25741868|PMID:28492532 735138 Tlr2 toll-like receptor 2 gene DOID:1024 leprosy susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 735138 Tlr2 toll-like receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353654 D RGD:7207899|PMID:22311043 20130212 RGD DNA:deletion:promoter:−196_−174del (human) 735138 Tlr2 toll-like receptor 2 gene DOID:1074 kidney failure IEP D RGD:7241085|PMID:16177646 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:7800666|PMID:23380629 20140115 RGD protein:increased expression:middle ear: 735138 Tlr2 toll-like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 735138 Tlr2 toll-like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:7777086|PMID:19586996 20140429 RGD associated with Haemophilus Infections; 735138 Tlr2 toll-like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:8552783|PMID:19414550 20140429 RGD associated with Pneumococcal Infections; 735138 Tlr2 toll-like receptor 2 gene DOID:10825 essential hypertension ISO RGD:1353654 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 735138 Tlr2 toll-like receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1353654 D RGD:8552827|PMID:23946637 20140429 RGD mRNA:increased expression:peripheral blood mononuclear cell: 735138 Tlr2 toll-like receptor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1353654 D RGD:8552995|PMID:24690988 20140502 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: 735138 Tlr2 toll-like receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1353654 D RGD:7207893|PMID:23142523 20130212 RGD DNA:deletion:promoter:−196_−174del (human) 735138 Tlr2 toll-like receptor 2 gene DOID:11168 anogenital venereal wart ISO RGD:1353654 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 735138 Tlr2 toll-like receptor 2 gene DOID:11204 allergic conjunctivitis ISO RGD:1551003 D RGD:8552826|PMID:19358332 20140429 RGD associated with Staphylococcal Infections; 735138 Tlr2 toll-like receptor 2 gene DOID:11339 pneumocystosis ISO RGD:1551003 D RGD:4145341|PMID:18400546 20101101 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1551003 D RGD:8553062|PMID:21125644 20140506 RGD mRNA:increased expression:sciatic nerve: 735138 Tlr2 toll-like receptor 2 gene DOID:11506 suppurative otitis media ISO RGD:1353654 D RGD:7800662|PMID:22883581 20140115 RGD mRNA,protein:increased expression:mucosa: 735138 Tlr2 toll-like receptor 2 gene DOID:12148 alveolar echinococcosis ISO RGD:1353654 D RGD:15090814|PMID:30141853 20191219 RGD mRNA:increased expression:PBMC 735138 Tlr2 toll-like receptor 2 gene DOID:12306 vitiligo susceptibility ISO RGD:1353654 D RGD:7777152|PMID:22429552 20140106 RGD DNA:polymorphism:exon:p.R753Q(human) 735138 Tlr2 toll-like receptor 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1551003 D RGD:4889534|PMID:19019963 20101203 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:13001 carotid stenosis treatment IDA D RGD:7241095|PMID:22167462 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:13078 eumycotic mycetoma ISO RGD:1551003 D RGD:7794752|PMID:21205004 20140109 RGD mRNA:increased expression:footpad: 735138 Tlr2 toll-like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:8552883|PMID:23908180 20140430 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell 735138 Tlr2 toll-like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:8552915|PMID:18336589 20140501 RGD mRNA:increased expression:intestine: 735138 Tlr2 toll-like receptor 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1353654 D RGD:8552888|PMID:19796535 20140430 RGD DNA:polymorphism: :12408G>A(human) 735138 Tlr2 toll-like receptor 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353654 D RGD:8552885|PMID:24255044 20140430 RGD DNA:SNPs: : rs2289318,rs3804099(human) 735138 Tlr2 toll-like receptor 2 gene DOID:13258 typhoid fever ISO RGD:1551003 D RGD:11061268|PMID:25667264 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1353654 D RGD:4145301|PMID:20813038 20101029 RGD mRNA:decreased expression:alveolar macrophage 735138 Tlr2 toll-like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1551003 D RGD:8553184|PMID:23668840 20140507 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:13564 aspergillosis ISO RGD:1551003 D RGD:4145322|PMID:19781388 20101029 RGD mRNA:increased expression:lung 735138 Tlr2 toll-like receptor 2 gene DOID:13580 cholestasis ISO RGD:1353654 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 735138 Tlr2 toll-like receptor 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:1551003 D RGD:15090858|PMID:29366780 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:13767 clonorchiasis ISO RGD:1551003 D RGD:15090810|PMID:28784165 20191219 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:1407 anterior uveitis ISO RGD:1353654 D RGD:8552823|PMID:17389503 20140429 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 susceptibility ISO RGD:1551003 D RGD:15090861|PMID:19841034 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:1495 cystic echinococcosis ISO RGD:1353654 D RGD:18182935|PMID:21923667 20200113 RGD mRNA:increased expression:peripheral blood monocyte: 735138 Tlr2 toll-like receptor 2 gene DOID:1495 cystic echinococcosis disease_progression ISO RGD:1353654 D RGD:15090825|PMID:31437685 20191220 RGD DNA:mutation:cds:Arg753Gln(human) 735138 Tlr2 toll-like receptor 2 gene DOID:1580 diffuse scleroderma disease_progression ISO RGD:1353654 D RGD:8553044|PMID:21905008 20140506 RGD DNA:polymorphism:cds:p.P631H(rs5743704)(human) 735138 Tlr2 toll-like receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1353654 D RGD:7794753|PMID:22560646 20140109 RGD DNA:deletion:promotor:-196_-174del(human) 735138 Tlr2 toll-like receptor 2 gene DOID:1936 atherosclerosis ISO RGD:1551003 D RGD:8552973|PMID:17466307 20140501 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:2043 hepatitis B treatment ISO RGD:1551003 D RGD:15090859|PMID:30008718 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:2297 leptospirosis ISO RGD:1551003 D RGD:7240557|PMID:19635914 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma ISO RGD:1353654 D RGD:2312679|PMID:19148143 20090828 RGD DNA:SNP: :rs3804100 (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma ISO RGD:1551003 D RGD:4145334|PMID:18787777 20101101 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma ISO RGD:1551003 D RGD:4145343|PMID:18202345 20101101 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma severity ISO RGD:1353654 D RGD:7800732|PMID:22402138 20140120 RGD DNA:polymorphism:cds:p.R753Q(human) 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:4144171|PMID:20685742 20101029 RGD DNA:SNP: :rs4696480 (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:4144228|PMID:19096003 20101101 RGD DNA:SNP: :596T>C (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:4145352|PMID:20815312 20101101 RGD DNA:SNP: :rs7656411 (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1551003 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse) 735138 Tlr2 toll-like receptor 2 gene DOID:2921 glomerulonephritis ISO RGD:1551003 D RGD:7241071|PMID:16849506 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1353654 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:4145320|PMID:20113509 20101029 RGD DNA:polymorphisms: :multiple (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:4145355|PMID:19552525 20101101 RGD mRNA, protein:increased expression:blood, T cell 735138 Tlr2 toll-like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:4145304|PMID:20298136 20101029 RGD DNA:polymorphism:intron (human) 735138 Tlr2 toll-like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:4145323|PMID:19723394 20101029 RGD DNA:SNP: :rs1816702 (human) 735138 Tlr2 toll-like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1353654 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 735138 Tlr2 toll-like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1551003 D RGD:7207898|PMID:22655058 20130212 RGD associated with Sepsis 735138 Tlr2 toll-like receptor 2 gene DOID:3178 skin papilloma ISO RGD:1353654 D RGD:8553046|PMID:24617037 20140506 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: 735138 Tlr2 toll-like receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1353654 D RGD:8552999|PMID:17531301 20140502 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:8552997|PMID:19627277 20140502 RGD DNA:polymorphism: :-16934A>T(human) 735138 Tlr2 toll-like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:8553048|PMID:22032785 20140506 RGD DNA:polymorphism:cds:p.R753Q(human) 735138 Tlr2 toll-like receptor 2 gene DOID:3410 carotid artery thrombosis ISO RGD:1551003 D RGD:15090824|PMID:28572286 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:4144177|PMID:20610040 20101029 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:4145324|PMID:19109203 20101029 RGD associated with Pneumonia 735138 Tlr2 toll-like receptor 2 gene DOID:399 tuberculosis ISO RGD:1353654 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 735138 Tlr2 toll-like receptor 2 gene DOID:399 tuberculosis ISO RGD:1353654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:14979495|PMID:16081826|PMID:22992740 735138 Tlr2 toll-like receptor 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 735138 Tlr2 toll-like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:7800742|PMID:18219831 20140121 RGD mRNA:decreased expression:nasal mucosa: 735138 Tlr2 toll-like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:8552993|PMID:22555057 20140502 RGD protein:increased expression:neutrophil: 735138 Tlr2 toll-like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1551003 D RGD:8552972|PMID:18381801 20140501 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:4481 allergic rhinitis severity ISO RGD:1353654 D RGD:7800732|PMID:22402138 20140120 RGD DNA:polymorphism:cds:p.R753Q(human) 735138 Tlr2 toll-like receptor 2 gene DOID:4483 rhinitis ISO RGD:1353654 D RGD:7800742|PMID:18219831 20140121 RGD mRNA:decreased expression:nasal mucosa: 735138 Tlr2 toll-like receptor 2 gene DOID:4483 rhinitis no_association ISO RGD:1353654 D RGD:4145356|PMID:19128592 20101101 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) 735138 Tlr2 toll-like receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1353654 D RGD:4145354|PMID:19763595 20101101 RGD DNA:SNPs: :597T>C, 1350T>C (human) 735138 Tlr2 toll-like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 735138 Tlr2 toll-like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:8552914|PMID:18398706 20140501 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: 735138 Tlr2 toll-like receptor 2 gene DOID:4677 keratitis ISO RGD:1551003 D RGD:7794840|PMID:17875630 20140114 RGD associated with Onchocerciasis, Ocular; 735138 Tlr2 toll-like receptor 2 gene DOID:4677 keratitis treatment IMP D RGD:8552816|PMID:21647173 20140429 RGD associated with Aspergillosis: 735138 Tlr2 toll-like receptor 2 gene DOID:4692 endophthalmitis ISO RGD:1551003 D RGD:8552880|PMID:19995266 20140430 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:4692 endophthalmitis ISO RGD:1551003 D RGD:8553060|PMID:22163046 20140506 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:4989 pancreatitis IEP D RGD:2312507|PMID:19260515 20090819 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1551003 D RGD:15090811|PMID:24815695 20191219 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:552 pneumonia susceptibility ISO RGD:1551003 D RGD:4145330|PMID:19011150 20101101 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:5614 eye disease ISO RGD:1353654 D RGD:8552913|PMID:16146574 20140501 RGD mRNA,protein:increased expression:nasal cavity mucosa: 735138 Tlr2 toll-like receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1353654 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 735138 Tlr2 toll-like receptor 2 gene DOID:630 genetic disease ISO RGD:1353654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735138 Tlr2 toll-like receptor 2 gene DOID:6543 acne ISO RGD:1353654 D RGD:8553025|PMID:18241264 20140505 RGD mRNA,protein:increased expression:skin: 735138 Tlr2 toll-like receptor 2 gene DOID:6543 acne severity ISO RGD:1353654 D RGD:8553024|PMID:20726329 20140505 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:6543 acne susceptibility ISO RGD:1353654 D RGD:8553023|PMID:20861605 20140505 RGD DNA:polymorphism:cds:p.R753Q(human) 735138 Tlr2 toll-like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:15090813|PMID:21500195 20191219 RGD associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human) 735138 Tlr2 toll-like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:15090815|PMID:27183918 20191219 RGD DNA:deletion:promoter:-196 to -174(human) 735138 Tlr2 toll-like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1551003 D RGD:18337266|PMID:22859216 20200117 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 735138 Tlr2 toll-like receptor 2 gene DOID:783 end stage renal disease ISO RGD:1353654 D RGD:7240546|PMID:20729266 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:7894 mite infestation ISO RGD:1353654 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29253318 735138 Tlr2 toll-like receptor 2 gene DOID:850 lung disease IDA D RGD:2312725|PMID:16286274 20090901 RGD associated with Pancreatitis, Acute Necrotizing 735138 Tlr2 toll-like receptor 2 gene DOID:850 lung disease IEP D RGD:4145303|PMID:20441697 20101029 RGD Acute Lung Injury;mRNA:increased expression:lung 735138 Tlr2 toll-like receptor 2 gene DOID:850 lung disease IEP D RGD:4145321|PMID:19956717 20101029 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung 735138 Tlr2 toll-like receptor 2 gene DOID:850 lung disease ISO RGD:1353654 D RGD:4145340|PMID:18602432 20101101 RGD associated with Mycobacterium avium-intracellulare Infection;DNA:polymorphism:intron (human) 735138 Tlr2 toll-like receptor 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1353654 D RGD:7240539|PMID:21426732 20130215 RGD protein:decreased expression:sputum, macrophage 735138 Tlr2 toll-like receptor 2 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20090828 RGD mRNA:increased expression:ileum 735138 Tlr2 toll-like receptor 2 gene DOID:869 cholesteatoma ISO RGD:1353654 D RGD:7800662|PMID:22883581 20140115 RGD mRNA,protein:increased expression:mucosa: 735138 Tlr2 toll-like receptor 2 gene DOID:874 bacterial pneumonia IDA D RGD:4889533|PMID:19844782 20101203 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1551003 D RGD:4145337|PMID:18768871 20101101 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:8741 seborrheic dermatitis treatment ISO RGD:1353654 D RGD:8553045|PMID:21566548 20140506 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:8867 molluscum contagiosum ISO RGD:1353654 D RGD:8553046|PMID:24617037 20140506 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: 735138 Tlr2 toll-like receptor 2 gene DOID:8893 psoriasis ISO RGD:1353654 D RGD:7777173|PMID:23457721 20140107 RGD mRNA:increased expression:mononuclear cell: 735138 Tlr2 toll-like receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1551003 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 735138 Tlr2 toll-like receptor 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1353654 D RGD:7777173|PMID:23457721 20140107 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: 735138 Tlr2 toll-like receptor 2 gene DOID:9000641 Pain IDA D RGD:8553185|PMID:24204973 20140507 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1551003 D RGD:7794740|PMID:12781911 20140109 RGD mRNA:increased expression: : 735138 Tlr2 toll-like receptor 2 gene DOID:9000972 Fever ISO RGD:1551003 D RGD:7241096|PMID:22042912 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9000998 Brain Injuries IEP D RGD:2312713|PMID:18316784 20090831 RGD mRNA:increased expression:brain 735138 Tlr2 toll-like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 735138 Tlr2 toll-like receptor 2 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1353654 D RGD:7794852|PMID:21848608 20140114 RGD protein:increased expression:gingiva: 735138 Tlr2 toll-like receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1551003 D RGD:8552825|PMID:20393111 20140429 RGD associated with Chlamydophila Infections; 735138 Tlr2 toll-like receptor 2 gene DOID:9001371 Eosinophilia ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 735138 Tlr2 toll-like receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1353654 D RGD:8552992|PMID:15836755 20140502 RGD associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha: 735138 Tlr2 toll-like receptor 2 gene DOID:9001488 Human Influenza ISO RGD:1353654 D RGD:4145339|PMID:18657324 20101101 RGD protein:increased expression:monocyte 735138 Tlr2 toll-like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment IDA D RGD:7241092|PMID:22683883 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1551003 D RGD:18182936|PMID:27601294 20200113 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9001949 Fungal Eye Infections IEP D RGD:2312502|PMID:19474209 20090819 RGD mRNA:increased expression:cornea 735138 Tlr2 toll-like receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551003 D RGD:4145321|PMID:19956717 20101029 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment IEP D RGD:15090809|PMID:25769561 20191219 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1551003 D RGD:15090805|PMID:16038046 20191219 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551003 D RGD:7241083|PMID:21617141 20130226 RGD associated with Diabetes Mellitus, Experimental 735138 Tlr2 toll-like receptor 2 gene DOID:9002211 Hyperalgesia IDA D RGD:8553185|PMID:24204973 20140507 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1551003 D RGD:8553059|PMID:17355971 20140506 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002371 Cardiotoxicity ISO RGD:1353654 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 735138 Tlr2 toll-like receptor 2 gene DOID:9002457 Experimental Arthritis IEP D RGD:7241099|PMID:21725847 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1551003 D RGD:8552884|PMID:20131263 20140430 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1551003 D RGD:2312723|PMID:18003835 20090901 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis IEP D RGD:2312575|PMID:18644848 20090821 RGD protein:increased expression:spinal cord 735138 Tlr2 toll-like receptor 2 gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:1551003 D RGD:7240560|PMID:18354210 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:1353654 D RGD:8553047|PMID:21544941 20140506 RGD protein:increased expression:monocyte,buccal mucosa: 735138 Tlr2 toll-like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:8552819|PMID:16926427 20140429 RGD associated with Staphylococcal Infections; 735138 Tlr2 toll-like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:8552886|PMID:23841825 20140430 RGD associated with Pneumococcal Infections; 735138 Tlr2 toll-like receptor 2 gene DOID:9003370 Dyslipidemias IGI RGD:2138 D RGD:7241091|PMID:23295061 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1551003 D RGD:15090829|PMID:28139935 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1551003 D RGD:7240543|PMID:21190299 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis IEP D RGD:5130178|PMID:20806060 20140506 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis disease_progression ISO RGD:1551003 D RGD:8553026|PMID:14739339 20140505 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9004009 Reperfusion Injury IEP D RGD:2312727|PMID:15912106 20090901 RGD mRNA, protein:increased expression:kidney 735138 Tlr2 toll-like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 735138 Tlr2 toll-like receptor 2 gene DOID:9004283 Transplant Rejection IEP D RGD:7240551|PMID:20628182 20130215 RGD kidney 735138 Tlr2 toll-like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:7240551|PMID:20628182 20130215 RGD kidney 735138 Tlr2 toll-like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:7240554|PMID:20090572 20130215 RGD liver;DNA:SNP: :p.R753Q (human) 735138 Tlr2 toll-like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1551003 D RGD:7207901|PMID:22042224 20130212 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1551003 D RGD:7240555|PMID:20038715 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9004484 Sepsis IEP D RGD:1302750|PMID:12831613 20130226 RGD associated with Burns;mRNA:increased expression:liver, lung, kidney 735138 Tlr2 toll-like receptor 2 gene DOID:9004484 Sepsis IEP D RGD:2312497|PMID:19489280 20090819 RGD associated with Liver Diseases;mRNA:increased expression:liver 735138 Tlr2 toll-like receptor 2 gene DOID:9004484 Sepsis IEP D RGD:2312732|PMID:14604479 20090901 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:1353654 D RGD:7800663|PMID:22662111 20140115 RGD associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) 735138 Tlr2 toll-like receptor 2 gene DOID:9005372 Inflammation IDA D RGD:4889539|PMID:16154916 20101203 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22178603 735138 Tlr2 toll-like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:4889537|PMID:20016195 20101203 RGD associated with Respiratory Hypersensitivity 735138 Tlr2 toll-like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:7240558|PMID:19479087 20130215 RGD associated with Ureteral Obstruction 735138 Tlr2 toll-like receptor 2 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 735138 Tlr2 toll-like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:2312491|PMID:16740310 20090819 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551003 D RGD:2312684|PMID:17707128 20090828 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9005930 Endotoxemia treatment IDA D RGD:7241094|PMID:22172266 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9005941 Rhinosinusitis ISO RGD:1353654 D RGD:7800733|PMID:22182736 20140120 RGD mRNA,protein:increased expression:paranasal sinus 735138 Tlr2 toll-like receptor 2 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1353654 D RGD:8552975|PMID:21493395 20140501 RGD DNA:polymorphisms:: rs3804099,rs3804100(human) 735138 Tlr2 toll-like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1551003 D RGD:7240552|PMID:20130923 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1551003 D RGD:7241087|PMID:11801667 20130226 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1551003 D RGD:7207896|PMID:22750071 20130212 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment IDA D RGD:7207892|PMID:23239000 20130212 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1551003 D RGD:7207894|PMID:23023072 20130212 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis severity IEP D RGD:2312712|PMID:19162137 20090831 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1353654 D RGD:11554173 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18466103|PMID:31557154 735138 Tlr2 toll-like receptor 2 gene DOID:9006844 Streptococcal Infections severity ISO RGD:1551003 D RGD:7240559|PMID:19179417 20130215 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:1353654 D RGD:8552969|PMID:20012880 20140501 RGD mRNA,protein:increased expression:cornea: 735138 Tlr2 toll-like receptor 2 gene DOID:9007073 Cough ISO RGD:1353654 D RGD:7240539|PMID:21426732 20130215 RGD protein:decreased expression:sputum, macrophage 735138 Tlr2 toll-like receptor 2 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:1551003 D RGD:7207900|PMID:22194975 20130212 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:2312688|PMID:19274437 20090828 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353654 D RGD:15090812|PMID:28414577 20191219 RGD protein:increased expression:serum: 735138 Tlr2 toll-like receptor 2 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1353654 D RGD:15090826|PMID:25337250 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353654 D RGD:15090828|PMID:25771704 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:17892325 735138 Tlr2 toll-like receptor 2 gene DOID:9008520 Chronic Pain ISO RGD:1353654 D RGD:8553185|PMID:24204973 20140507 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9008595 Brain Abscess ISO RGD:1551003 D RGD:8552881|PMID:16239543 20140430 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:7364764|PMID:22336013 20130926 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:1353654 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 735138 Tlr2 toll-like receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1353654 D RGD:7794748|PMID:20493664 20140109 RGD protein:decreased expression:skin: 735138 Tlr2 toll-like receptor 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:1551003 D RGD:15090808|PMID:23589575 20191219 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353654 D RGD:7240710 20230505 OMIM 735138 Tlr2 toll-like receptor 2 gene DOID:9368 keratoconjunctivitis ISO RGD:1353654 D RGD:8552813|PMID:15875531 20140429 RGD protein:increased expression:conjnctival epithelium: 735138 Tlr2 toll-like receptor 2 gene DOID:9446 cholangitis disease_progression ISO RGD:1551003 D RGD:15090860|PMID:30340822 20191220 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9675 pulmonary emphysema ISO RGD:1551003 D RGD:4145342|PMID:18399852 20101101 RGD protein:increased expression:alveolar macrophage 735138 Tlr2 toll-like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:2312679|PMID:19148143 20090828 RGD DNA:SNP: :rs3804100 (human) 735138 Tlr2 toll-like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:2312683|PMID:18029454 20090828 RGD protein:increased expression:monocyte 735138 Tlr2 toll-like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:2312686|PMID:15699513 20090828 RGD DNA:SNP: :1350T>C (human) 735138 Tlr2 toll-like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551003 D RGD:2312684|PMID:17707128 20090828 RGD 735138 Tlr2 toll-like receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1353654 D RGD:2312687|PMID:17130564 20090828 RGD DNA:SNP: :1350T>C (human) 735138 Tlr2 toll-like receptor 2 gene DOID:9970 obesity ISO RGD:1551003 D RGD:2312681|PMID:18787058 20090828 RGD 735139 Wls Wnt ligand secretion mediator gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1605334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:25741868 735139 Wls Wnt ligand secretion mediator gene DOID:1059 intellectual disability ISO RGD:1605334 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 735139 Wls Wnt ligand secretion mediator gene DOID:630 genetic disease ISO RGD:1605334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735139 Wls Wnt ligand secretion mediator gene DOID:9001208 ZAKI SYNDROME ISO RGD:1605334 D RGD:7240710 20220223 OMIM 735139 Wls Wnt ligand secretion mediator gene DOID:9001208 ZAKI SYNDROME ISO RGD:1605334 D RGD:8554872 20220222 ClinVar ClinVar Annotator: match by term: Zaki syndrome PMID:25741868|PMID:34587386 735139 Wls Wnt ligand secretion mediator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605334 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735140 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606261 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 735140 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 735140 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735140 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25482527 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354204 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1354204 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable agammaglobulinemia PMID:28492532 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:2729 dyskeratosis congenita ISO RGD:1354204 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354204 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 735141 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:630 genetic disease ISO RGD:1354204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735143 Zfhx2 zinc finger homeobox 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1351762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 735143 Zfhx2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:7240710 20200311 OMIM 735143 Zfhx2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 735143 Zfhx2 zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1351762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735143 Zfhx2 zinc finger homeobox 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1351762 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 735143 Zfhx2 zinc finger homeobox 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351762 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 735144 Wasl WASP like actin nucleation promoting factor gene DOID:3310 atopic dermatitis ISS RGD:1553011 D RGD:13592920 20190516 MouseDO OMIM:603165 735144 Wasl WASP like actin nucleation promoting factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347655 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735144 Wasl WASP like actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1347655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735144 Wasl WASP like actin nucleation promoting factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347655 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 735145 Vwa5a von Willebrand factor A domain containing 5A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 735145 Vwa5a von Willebrand factor A domain containing 5A gene DOID:5419 schizophrenia ISO RGD:1323359 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 735145 Vwa5a von Willebrand factor A domain containing 5A gene DOID:630 genetic disease ISO RGD:1323359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735145 Vwa5a von Willebrand factor A domain containing 5A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323359 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 735145 Vwa5a von Willebrand factor A domain containing 5A gene DOID:9007661 Dwarfism ISO RGD:1323359 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 735146 Slc1a4 solute carrier family 1 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345199 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 735146 Slc1a4 solute carrier family 1 member 4 gene DOID:10907 microcephaly ISO RGD:1345199 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 735146 Slc1a4 solute carrier family 1 member 4 gene DOID:630 genetic disease ISO RGD:1345199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26041762|PMID:27193218|PMID:2837306|PMID:28492532|PMID:34174466 735146 Slc1a4 solute carrier family 1 member 4 gene DOID:9004845 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly ISO RGD:1345199 D RGD:7240710 20170419 OMIM 735146 Slc1a4 solute carrier family 1 member 4 gene DOID:9004845 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly ISO RGD:1345199 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly PMID:25741868|PMID:25930971|PMID:26041762|PMID:26138499|PMID:27193218|PMID:27848944|PMID:2837306|PMID:28492532|PMID:29989513|PMID:30125339|PMID:32404165|PMID:34174466 735147 Etfbkmt electron transfer flavoprotein subunit beta lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735148 Il17re interleukin 17 receptor E gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 735148 Il17re interleukin 17 receptor E gene DOID:2843 long QT syndrome ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 735148 Il17re interleukin 17 receptor E gene DOID:630 genetic disease ISO RGD:1602300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735148 Il17re interleukin 17 receptor E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602300 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735148 Il17re interleukin 17 receptor E gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1602300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 735148 Il17re interleukin 17 receptor E gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1602300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 735149 Gpr108 G protein-coupled receptor 108 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 735149 Gpr108 G protein-coupled receptor 108 gene DOID:630 genetic disease ISO RGD:1344702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735150 P4ha3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346978 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 735150 P4ha3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1346978 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735150 P4ha3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1346978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:0080600 COVID-19 ISO RGD:1347245 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:12894 Sjogren's syndrome ISS RGD:1553451 D RGD:13592920 20180518 MouseDO OMIM:270150 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1347245 D RGD:5130912|PMID:12626344 20110413 RGD mRNA:increased expression:lung 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:13564 aspergillosis ISO RGD:1553451 D RGD:5130908|PMID:19783686 20110413 RGD associated with Neutropenia 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:1824 status epilepticus ISO RGD:1347245 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:2841 asthma ISO RGD:1553451 D RGD:8549811|PMID:19917684 20140408 RGD protein:increased expression:lung, dendritic cell (mouse) 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:552 pneumonia ISO RGD:1347245 D RGD:5130919|PMID:16394278 20110414 RGD mRNA, protein:increased expression:lung 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:630 genetic disease ISO RGD:1347245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:874 bacterial pneumonia ISO RGD:1553451 D RGD:5130918|PMID:20176793 20110414 RGD 735151 Ccr7 C-C motif chemokine receptor 7 gene DOID:8778 Crohn's disease ISO RGD:1347245 D RGD:11554173 20221101 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 735152 Stimate STIM activating enhancer gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:5013865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 735153 Pcdha9 protocadherin alpha 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343466 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735153 Pcdha9 protocadherin alpha 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735153 Pcdha9 protocadherin alpha 9 gene DOID:10283 prostate cancer ISO RGD:1343466 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735153 Pcdha9 protocadherin alpha 9 gene DOID:10487 Hirschsprung's disease ISO RGD:1343466 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735153 Pcdha9 protocadherin alpha 9 gene DOID:2228 thrombocytosis ISO RGD:1343466 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 735153 Pcdha9 protocadherin alpha 9 gene DOID:4079 heart valve disease ISO RGD:1343466 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 735153 Pcdha9 protocadherin alpha 9 gene DOID:630 genetic disease ISO RGD:1343466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735153 Pcdha9 protocadherin alpha 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343466 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735153 Pcdha9 protocadherin alpha 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735153 Pcdha9 protocadherin alpha 9 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1343466 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 735154 Sh3rf1 SH3 domain containing ring finger 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1348094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 735154 Sh3rf1 SH3 domain containing ring finger 1 gene DOID:630 genetic disease ISO RGD:1348094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735155 Car11 carbonic anhydrase 11 gene DOID:0080600 COVID-19 ISO RGD:1348503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735155 Car11 carbonic anhydrase 11 gene DOID:630 genetic disease ISO RGD:1348503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1354107 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:0080600 COVID-19 ISO RGD:1354107 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:10907 microcephaly ISO RGD:1354107 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:1856 cherubism ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1354107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20938900 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:33443296 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:630 genetic disease ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532|PMID:34113002 735156 Fgfrl1 fibroblast growth factor receptor-like 1 gene DOID:9006836 Contracture ISO RGD:1354107 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Contractures 735157 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:7240710 20190315 OMIM 735157 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC PMID:27023906|PMID:28065471 735157 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1347206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 735157 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:630 genetic disease ISO RGD:1347206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735157 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347206 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735157 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1347206 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 735158 Mterf3 mitochondrial transcription termination factor 3 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 735158 Mterf3 mitochondrial transcription termination factor 3 gene DOID:630 genetic disease ISO RGD:1603051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735159 Ipcef1 interaction protein for cytohesin exchange factors 1 gene DOID:1037 lymphoid leukemia ISO RGD:1603404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 735159 Ipcef1 interaction protein for cytohesin exchange factors 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603404 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 735159 Ipcef1 interaction protein for cytohesin exchange factors 1 gene DOID:630 genetic disease ISO RGD:1603404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:0080600 COVID-19 ISO RGD:1354396 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1354396 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:2477 motor peripheral neuropathy ISO RGD:1354396 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1354396 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:630 genetic disease ISO RGD:1354396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:7240710 20130221 OMIM 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive PMID:16399879|PMID:17576681|PMID:25124038|PMID:25345891|PMID:25741868|PMID:28492532|PMID:28623285|PMID:28832565|PMID:29552646|PMID:9536098 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9006205 Animal Disease Models ISO RGD:1354396 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354396 D RGD:11554173 20180703 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 735161 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1354396 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 735162 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18179882|PMID:25741868|PMID:28492532 735162 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343021 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 735162 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:7240710 20190315 OMIM 735162 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532|PMID:28853723 735162 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1345643 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18404682 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:5844 myocardial infarction IEP D RGD:4107088|PMID:19109969 20100714 RGD 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:5844 myocardial infarction ISO RGD:1550582 D RGD:155883169|PMID:19079247 20230203 RGD 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:630 genetic disease ISO RGD:1345643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:9007838 Myocardial Reperfusion Injury IEP D RGD:4107088|PMID:19109969 20100714 RGD 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 735163 Sfrp2 secreted frizzled-related protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345643 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 735164 Slc4a8 solute carrier family 4 member 8 gene DOID:11716 prediabetes syndrome IEP D RGD:9999379|PMID:24105628 20150415 RGD 735164 Slc4a8 solute carrier family 4 member 8 gene DOID:630 genetic disease ISO RGD:1346907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735165 Pcdha6 protocadherin alpha 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1344704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735165 Pcdha6 protocadherin alpha 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344704 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735165 Pcdha6 protocadherin alpha 6 gene DOID:10283 prostate cancer ISO RGD:1344704 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735165 Pcdha6 protocadherin alpha 6 gene DOID:10487 Hirschsprung's disease ISO RGD:1344704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735165 Pcdha6 protocadherin alpha 6 gene DOID:2228 thrombocytosis ISO RGD:1344704 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 735165 Pcdha6 protocadherin alpha 6 gene DOID:630 genetic disease ISO RGD:1344704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735165 Pcdha6 protocadherin alpha 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344704 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735165 Pcdha6 protocadherin alpha 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344704 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735166 Chdh choline dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1347167 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 735166 Chdh choline dehydrogenase gene DOID:630 genetic disease ISO RGD:1347167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735167 Tpd52l2 TPD52 like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 735167 Tpd52l2 TPD52 like 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352243 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 735167 Tpd52l2 TPD52 like 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 735167 Tpd52l2 TPD52 like 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352243 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 735167 Tpd52l2 TPD52 like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 735167 Tpd52l2 TPD52 like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 735167 Tpd52l2 TPD52 like 2 gene DOID:630 genetic disease ISO RGD:1352243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735168 Tmem138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:22282472|PMID:28102635|PMID:28492532 735168 Tmem138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:22282472|PMID:27081510|PMID:28102635|PMID:28492532|PMID:9536098 735168 Tmem138 transmembrane protein 138 gene DOID:0050778 Meckel syndrome ISO RGD:1604817 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 735168 Tmem138 transmembrane protein 138 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 735168 Tmem138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:7240710 20140911 OMIM 735168 Tmem138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 16 PMID:17576681|PMID:22282472|PMID:25741868|PMID:26092869|PMID:26489029|PMID:27081510|PMID:27434533|PMID:28102635|PMID:28289185|PMID:28492532|PMID:32404165|PMID:9536098 735168 Tmem138 transmembrane protein 138 gene DOID:1059 intellectual disability ISO RGD:1604817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735168 Tmem138 transmembrane protein 138 gene DOID:630 genetic disease ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735169 Rpl7 ribosomal protein L7 gene DOID:630 genetic disease ISO RGD:1350931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:7240710 20130221 OMIM 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSAT deficiency PMID:17436247|PMID:17576681|PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226|PMID:9536098 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:7240710 20171025 OMIM 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:16199547|PMID:17436247|PMID:17576681|PMID:25152457|PMID:25741868|PMID:26960553|PMID:28492532|PMID:30293248|PMID:31903955|PMID:32077105|PMID:32579715|PMID:34089226|PMID:9536098 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:1607031 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:10907 microcephaly ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1607031 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1607031 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:9002189 High Myopia ISO RGD:1607031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532|PMID:32077105 735170 Psat1 phosphoserine aminotransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1607031 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 735171 Tlr3 toll-like receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343581 D RGD:8554872 20160412 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 735171 Tlr3 toll-like receptor 3 gene DOID:0060180 colitis IEP D RGD:5128708|PMID:20011045 20110315 RGD mRNA:increased expression:large intestine mucosa (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1343581 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:26513235|PMID:28368532|PMID:28492532 735171 Tlr3 toll-like receptor 3 gene DOID:10140 dry eye syndrome ISO RGD:1553513 D RGD:8552916|PMID:23372055 20140501 RGD mRNA,protein:increased expression:cornea,conjunctiva: 735171 Tlr3 toll-like receptor 3 gene DOID:10591 pre-eclampsia IEP D RGD:5128769|PMID:19779466 20110316 RGD protein:increased expression:placenta (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1343581 D RGD:8552827|PMID:23946637 20140429 RGD mRNA:increased expression:peripheral blood mononuclear cell: 735171 Tlr3 toll-like receptor 3 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1343581 D RGD:5129102|PMID:20473890 20110323 RGD mRNA:increased expression:cervix epithelium (human) 735171 Tlr3 toll-like receptor 3 gene DOID:11168 anogenital venereal wart ISO RGD:1343581 D RGD:40400714|PMID:23754510 20201103 RGD mRNA,protein:increased expression:multiple (human) 735171 Tlr3 toll-like receptor 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1553513 D RGD:5129134|PMID:18849495 20110324 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553513 D RGD:5129224|PMID:16424225 20110329 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:12849 autistic disorder ISO RGD:1343581 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735171 Tlr3 toll-like receptor 3 gene DOID:13241 Behcet's disease ISO RGD:1343581 D RGD:8552883|PMID:23908180 20140430 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell 735171 Tlr3 toll-like receptor 3 gene DOID:1520 colon carcinoma ISO RGD:1343581 D RGD:21079438|PMID:23467704 20200217 RGD protein:increased expression:colon 735171 Tlr3 toll-like receptor 3 gene DOID:1883 hepatitis C ISO RGD:1343581 D RGD:7175316|PMID:21623661 20200213 RGD associated with glomerulonephritis;mRNA:increased expression:liver: 735171 Tlr3 toll-like receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1343581 D RGD:21079437|PMID:29947302 20200217 RGD DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) 735171 Tlr3 toll-like receptor 3 gene DOID:1883 hepatitis C severity ISO RGD:1343581 D RGD:21079429|PMID:27101936 20200214 RGD associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) 735171 Tlr3 toll-like receptor 3 gene DOID:1883 hepatitis C susceptibility ISO RGD:1343581 D RGD:21079422|PMID:23240626 20200214 RGD DNA:SNP:cds:p.Leu412Phe(human) 735171 Tlr3 toll-like receptor 3 gene DOID:2043 hepatitis B disease_progression ISO RGD:1343581 D RGD:21079424|PMID:30143709 20200214 RGD DNA:SNPs, haplotype: rs3775291,rs5743305 (human) 735171 Tlr3 toll-like receptor 3 gene DOID:2043 hepatitis B susceptibility ISO RGD:1343581 D RGD:21079431|PMID:22825813 20200214 RGD DNA:SNP, haplotype: rs1879026(human) 735171 Tlr3 toll-like receptor 3 gene DOID:2365 West Nile encephalitis ISO RGD:1553513 D RGD:126781836|PMID:24173226 20210421 RGD mRNA:increased expression:brain 735171 Tlr3 toll-like receptor 3 gene DOID:2841 asthma IMP D RGD:5128500|PMID:21364926 20110315 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:5129226|PMID:21129050 20110329 RGD Asthma, Virus-Induced; mRNA:increased expression:sputum (human) 735171 Tlr3 toll-like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:5129478|PMID:17434873 20110330 RGD DNA:snp:cds:p.L412F (human) 735171 Tlr3 toll-like receptor 3 gene DOID:2841 asthma ISO RGD:1553513 D RGD:5129475|PMID:17610940 20110330 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:2841 asthma no_association ISO RGD:1343581 D RGD:5129493|PMID:14987294 20110331 RGD DNA:snp:cds:p.L412F (human) 735171 Tlr3 toll-like receptor 3 gene DOID:3492 mixed connective tissue disease ISO RGD:1553513 D RGD:5129221|PMID:16453294 20110329 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:4724 brain edema ISO RGD:1343581 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 735171 Tlr3 toll-like receptor 3 gene DOID:4989 pancreatitis IEP D RGD:5128695|PMID:21342497 20110315 RGD protein:increased expression:spinal cord dorsal horn (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1343581 D RGD:21079416|PMID:26024592 20200213 RGD DNA:snp: :rs3775290(human) 735171 Tlr3 toll-like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343581 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:28046022|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193 735171 Tlr3 toll-like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1343581 D RGD:7240710 20230517 OMIM 735171 Tlr3 toll-like receptor 3 gene DOID:5614 eye disease ISO RGD:1343581 D RGD:8552913|PMID:16146574 20140501 RGD mRNA,protein:increased expression:nasal cavity mucosa: 735171 Tlr3 toll-like receptor 3 gene DOID:574 peripheral nervous system disease IEP D RGD:5129232|PMID:20638911 20110329 RGD protein:increased expression:spinal cord dorsal horn (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:630 genetic disease ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735171 Tlr3 toll-like receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343581 D RGD:21079421|PMID:23197495 20200214 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:7188 autoimmune thyroiditis ISO RGD:1343581 D RGD:5128798|PMID:15661832 20110317 RGD protein:increased expression:thyroid gland (human) 735171 Tlr3 toll-like receptor 3 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20110316 RGD mRNA:increased expression:ileum (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:8729 milker's nodule severity ISO RGD:1553513 D RGD:5129216|PMID:18097050 20110329 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1343581 D RGD:21079425|PMID:23076446 20200214 RGD associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human) 735171 Tlr3 toll-like receptor 3 gene DOID:9000972 Fever ISO RGD:1343581 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 735171 Tlr3 toll-like receptor 3 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1343581 D RGD:7794852|PMID:21848608 20140114 RGD protein:increased expression:gingiva: 735171 Tlr3 toll-like receptor 3 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1553513 D RGD:21079426|PMID:23023014 20200214 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1553513 D RGD:21079436|PMID:30870678 20200217 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1343581 D RGD:5129228|PMID:20935192 20110329 RGD mRNA:decreased expression:olfactory epithelial cell (human) 735171 Tlr3 toll-like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:5129136|PMID:18654661 20110324 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:5129219|PMID:16789835 20110329 RGD mRNA:increased expression:lung (mouse) 735171 Tlr3 toll-like receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553513 D RGD:21079415|PMID:27178735 20200213 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9001981 Weight Loss ISO RGD:1343581 D RGD:11554173 20201217 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 735171 Tlr3 toll-like receptor 3 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1553513 D RGD:5129133|PMID:19009529 20110324 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9002457 Experimental Arthritis IEP D RGD:5128706|PMID:20500834 20110315 RGD mRNA, protein:increased expression:spleen (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:9002457 Experimental Arthritis IMP D RGD:5128706|PMID:20500834 20110324 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1343581 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism 735171 Tlr3 toll-like receptor 3 gene DOID:9004009 Reperfusion Injury IEP D RGD:5128693|PMID:21355876 20110315 RGD protein:increased expression:liver (rat) 735171 Tlr3 toll-like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:21079428|PMID:29860675 20200214 RGD DNA:SNP: :rs3775290(human) 735171 Tlr3 toll-like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:21079430|PMID:23220997 20200214 RGD DNA:SNP: :rs13126816 (human) 735171 Tlr3 toll-like receptor 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1343581 D RGD:21079435|PMID:28480979 20200217 RGD 735171 Tlr3 toll-like receptor 3 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1343581 D RGD:21079427|PMID:30321082 20200214 RGD DNA:SNP: :rs3775290(human) 735171 Tlr3 toll-like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:21079422|PMID:23240626 20200214 RGD DNA:SNP:cds:p.Leu412Phe(human) 735171 Tlr3 toll-like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:21079423|PMID:19674283 20200214 RGD treatment:peginterferon plus ribavirin. 735171 Tlr3 toll-like receptor 3 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1343581 D RGD:5129130|PMID:19752565 20110324 RGD protein:decreased expression:bone marrow, blood, eosinophil (human) 735171 Tlr3 toll-like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:21079416|PMID:26024592 20200213 RGD DNA:snp: :rs3775290(human) 735171 Tlr3 toll-like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:21079425|PMID:23076446 20200214 RGD DNA:SNP, haplotype: :1234C>T (human) 735171 Tlr3 toll-like receptor 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1343581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:17434873|PMID:17576681|PMID:17872438|PMID:19625408|PMID:19763152|PMID:20307669|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:22406018|PMID:24033266|PMID:25118264|PMID:25339207|PMID:25629076|PMID:25741868|PMID:26193622|PMID:26513235|PMID:27872624|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395|PMID:9536098 735171 Tlr3 toll-like receptor 3 gene DOID:9009130 Immunodeficiency 83 ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:26513235|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395 735171 Tlr3 toll-like receptor 3 gene DOID:9009130 Immunodeficiency 83 susceptibility ISO RGD:1343581 D RGD:7240710 20230517 OMIM 735171 Tlr3 toll-like receptor 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343581 D RGD:5129476|PMID:16029432 20110330 RGD DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) 735172 Rab15 RAB15, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735173 Tmbim4 transmembrane BAX inhibitor motif containing 4 gene DOID:5119 ovarian cyst ISO RGD:1602117 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 735173 Tmbim4 transmembrane BAX inhibitor motif containing 4 gene DOID:630 genetic disease ISO RGD:1602117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343498 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:1148 polydactyly ISO RGD:1343498 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Polydactyly 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343498 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735175 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343498 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 735177 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352080 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 735177 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:7240710 20130221 OMIM 735177 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532|PMID:30564185 735177 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:607 paraplegia ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16826525|PMID:17576681|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30564185 735177 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:630 genetic disease ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:10283 prostate cancer ISO RGD:1351668 D RGD:2289902|PMID:10362802 20080218 RGD mRNA:increased expression:prostate gland 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:10283 prostate cancer disease_progression ISO RGD:1351668 D RGD:2289901|PMID:11733359 20080218 RGD DNA:amplification 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:10286 prostate carcinoma ISO RGD:1351668 D RGD:2289900|PMID:14997205 20080218 RGD DNA:amplification 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351668 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:1612 breast cancer ISO RGD:1351668 D RGD:2289902|PMID:10362802 20080218 RGD DNA:amplification 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:206 hereditary multiple exostoses ISO RGD:1351668 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:630 genetic disease ISO RGD:1351668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1351668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14997205 735178 Eif3h eukaryotic translation initiation factor 3, subunit H gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351668 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18372905 735179 Laptm4a lysosomal protein transmembrane 4 alpha gene DOID:630 genetic disease ISO RGD:1346215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735180 Ly6g5c lymphocyte antigen 6 family member G5C gene DOID:0050553 JMP syndrome ISO RGD:1346509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 735180 Ly6g5c lymphocyte antigen 6 family member G5C gene DOID:11372 megacolon ISO RGD:1346509 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 735180 Ly6g5c lymphocyte antigen 6 family member G5C gene DOID:630 genetic disease ISO RGD:1346509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735181 Prr4 proline rich 4 gene DOID:630 genetic disease ISO RGD:1346469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735182 Pcdha2 protocadherin alpha 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1315965 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735182 Pcdha2 protocadherin alpha 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315965 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735182 Pcdha2 protocadherin alpha 2 gene DOID:10283 prostate cancer ISO RGD:1315965 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735182 Pcdha2 protocadherin alpha 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1315965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735182 Pcdha2 protocadherin alpha 2 gene DOID:2228 thrombocytosis ISO RGD:1315965 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 735182 Pcdha2 protocadherin alpha 2 gene DOID:630 genetic disease ISO RGD:1315965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735182 Pcdha2 protocadherin alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315965 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735182 Pcdha2 protocadherin alpha 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315965 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:10763 hypertension IEP D RGD:11561939|PMID:23499735 20161111 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347480 D RGD:11558015|PMID:25209900 20161216 RGD protein:increased expression:heart 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:1596 depressive disorder treatment ISO RGD:1332294 D RGD:11561930|PMID:25386878 20161111 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:1686 glaucoma IEP D RGD:13782046|PMID:24136224 20180815 RGD protein:increased expression:optic nerve 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:224 transient cerebral ischemia treatment IEP D RGD:11561910|PMID:22509406 20161110 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:2843 long QT syndrome ISO RGD:1347480 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:3068 glioblastoma treatment ISO RGD:1347480 D RGD:11561946|PMID:24905460 20161114 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:326 ischemia IEP D RGD:11561945|PMID:25435100 20161114 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332294 D RGD:11561951|PMID:23851366 20161114 RGD mRNA:increased expression:spinal cord 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:5082 liver cirrhosis ISO RGD:1347480 D RGD:11561934|PMID:22895779 20161111 RGD protein:increased expression:skeletal muscle 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment IEP D RGD:11561987|PMID:26093278 20161115 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:5844 myocardial infarction treatment IEP D RGD:11561913|PMID:20079142 20161110 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:630 genetic disease ISO RGD:1347480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:90 degenerative disc disease IEP D RGD:11561942|PMID:22835012 20161114 RGD protein:increased expression:intervertebral disc 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11561918|PMID:24559459 20161110 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries IEP D RGD:11564330|PMID:23637053 20161116 RGD protein:increased expression:spinal cord 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:11561922|PMID:23852559 20161111 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9000288 Chronic Intermittent Hypoxia IEP D RGD:11561988|PMID:24990154 20161115 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9000998 Brain Injuries IEP D RGD:11558018|PMID:24221859 20161107 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9002211 Hyperalgesia IEP D RGD:11560531|PMID:23665054 20161109 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9002676 Cerebral Hemorrhage IEP D RGD:11561935|PMID:23884876 20161111 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9002955 Nerve Degeneration IEP D RGD:5685686|PMID:21436843 20161111 RGD protein:increased expression:lumbar spinal cord ventral horn 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:11558017|PMID:25919564 20161107 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9003936 Cardiomegaly treatment IEP D RGD:11561938|PMID:24998254 20161111 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9004332 Osteoarthritis, Experimental treatment IEP D RGD:11561955|PMID:23589102 20161114 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1332294 D RGD:11561916|PMID:20075199 20161110 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment IEP D RGD:11561958|PMID:26412257 20161114 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9006281 Temporomandibular Joint Disorders IEP D RGD:10041017|PMID:23386193 20161111 RGD protein:increased expression:cartilage tissue 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1332294 D RGD:11560530|PMID:22850625 20161109 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9007730 Burns IEP D RGD:11561936|PMID:24730400 20161111 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1332294 D RGD:11561944|PMID:20812860 20161114 RGD protein:increased expression:heart 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment IEP D RGD:11561911|PMID:20821058 20161110 RGD 735183 Map1lc3a microtubule-associated protein 1 light chain 3 alpha gene DOID:9352 type 2 diabetes mellitus treatment IEP D RGD:11561956|PMID:21820301 20161114 RGD 735184 Tox2 TOX high mobility group box family member 2 gene DOID:2234 focal epilepsy ISO RGD:1350992 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 735184 Tox2 TOX high mobility group box family member 2 gene DOID:630 genetic disease ISO RGD:1350992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735184 Tox2 TOX high mobility group box family member 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 735185 Suco SUN domain containing ossification factor gene DOID:0110344 osteogenesis imperfecta type 5 ISS RGD:1621340 D RGD:13592920 20180518 MouseDO OMIM:610967 735185 Suco SUN domain containing ossification factor gene DOID:1540 parathyroid carcinoma ISO RGD:1347236 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735185 Suco SUN domain containing ossification factor gene DOID:630 genetic disease ISO RGD:1347236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735185 Suco SUN domain containing ossification factor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 735185 Suco SUN domain containing ossification factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347236 D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 735185 Suco SUN domain containing ossification factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347236 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735186 Evc EvC ciliary complex subunit 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:10700162|PMID:10700184|PMID:14217223|PMID:17024374|PMID:17576681|PMID:19810119|PMID:23220543|PMID:25741868|PMID:28492532|PMID:29068549|PMID:31028937|PMID:9066272|PMID:9536098 735186 Evc EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:7240710 20130221 OMIM 735186 Evc EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:10700184|PMID:18947413|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:28492532|PMID:7635486 735186 Evc EvC ciliary complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1342513 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 735186 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:1302823|PMID:10700184 19990101 RGD DNA:mutations:multiple (human) 735186 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:155260285|PMID:34037314 20220926 RGD DNA:deletion:cds:c.731_757(human) 735186 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:155260290|PMID:29229899 20220926 RGD DNA:mutation:exon:c.1678G>T(human) 735186 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:7240710 20130221 OMIM 735186 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:10700162|PMID:10700184|PMID:14217223|PMID:16199547|PMID:17024374|PMID:17576681|PMID:18454448|PMID:18947413|PMID:19251731|PMID:19744229|PMID:19810119|PMID:19876929|PMID:20184732|PMID:22190900|PMID:23220543|PMID:23924873|PMID:24431330|PMID:25046119|PMID:25174843|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26621368|PMID:26625674|PMID:26748586|PMID:27453244|PMID:28253570|PMID:28492532|PMID:28854412|PMID:29068549|PMID:29229899|PMID:29321360|PMID:30805457|PMID:31028937|PMID:31319225|PMID:31338997|PMID:32055034|PMID:7628126|PMID:7635486|PMID:9066272|PMID:9536098 735186 Evc EvC ciliary complex subunit 1 gene DOID:1657 ventricular septal defect ISO RGD:1342513 D RGD:155260289|PMID:29257216 20220926 RGD DNA:SNP::c.1727G>A(human) 735186 Evc EvC ciliary complex subunit 1 gene DOID:630 genetic disease ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735186 Evc EvC ciliary complex subunit 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 735187 Ankrd36 ankyrin repeat domain 36 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1342961 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 735187 Ankrd36 ankyrin repeat domain 36 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1342961 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility 735187 Ankrd36 ankyrin repeat domain 36 gene DOID:1059 intellectual disability ISO RGD:1342961 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735188 Gstk1 glutathione S-transferase kappa 1 gene DOID:630 genetic disease ISO RGD:1606879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735188 Gstk1 glutathione S-transferase kappa 1 gene DOID:8398 osteoarthritis ISO RGD:1606879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 735188 Gstk1 glutathione S-transferase kappa 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606879 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060019 coronin-1A deficiency ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1345683 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:1345683 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome PMID:31690835 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1345683 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1345683 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:12849 autistic disorder ISO RGD:1345683 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:1882 atrial heart septal defect ISO RGD:1345683 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:5419 schizophrenia ISO RGD:1345683 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:630 genetic disease ISO RGD:1345683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345683 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 735189 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:1345683 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome PMID:31690835 735191 Panx2 pannexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 735191 Panx2 pannexin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1349764 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 735191 Panx2 pannexin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1349764 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 735191 Panx2 pannexin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1349764 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 735191 Panx2 pannexin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1349764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 735191 Panx2 pannexin 2 gene DOID:1059 intellectual disability ISO RGD:1349764 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735191 Panx2 pannexin 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1349764 D RGD:152998978|PMID:31687280 20220714 RGD mRNA:altered expression:liver (human) 735191 Panx2 pannexin 2 gene DOID:630 genetic disease ISO RGD:1349764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735192 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:2843 long QT syndrome ISO RGD:1343864 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 735192 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:630 genetic disease ISO RGD:1343864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735192 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1550333 D RGD:10755431|PMID:19168544 20160127 RGD 735192 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:1343864 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 735193 Fam3c FAM3 metabolism regulating signaling molecule C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345832 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735193 Fam3c FAM3 metabolism regulating signaling molecule C gene DOID:630 genetic disease ISO RGD:1345832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735194 Snap47 synaptosome associated protein 47 gene DOID:1540 parathyroid carcinoma ISO RGD:1601832 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 735194 Snap47 synaptosome associated protein 47 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601832 D RGD:11554173 20220906 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 735194 Snap47 synaptosome associated protein 47 gene DOID:630 genetic disease ISO RGD:1601832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735194 Snap47 synaptosome associated protein 47 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601832 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 735195 Mrpl16 mitochondrial ribosomal protein L16 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 735195 Mrpl16 mitochondrial ribosomal protein L16 gene DOID:1059 intellectual disability ISO RGD:1354403 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735195 Mrpl16 mitochondrial ribosomal protein L16 gene DOID:630 genetic disease ISO RGD:1354403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:10652 Alzheimer's disease ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:12800 mucopolysaccharidosis VI IEP D RGD:10043113|PMID:23192728 20150514 RGD protein:increased expression:intervertebral disk 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343923 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:630 genetic disease ISO RGD:1343923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1343923 D RGD:10043106|PMID:11801682 20150513 RGD protein:alternative form:synovium 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis IEP D RGD:2300093|PMID:17530714 20150513 RGD mRNA:increased expression:cartilage 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:10043102|PMID:22961118 20150513 RGD DNA:missense mutation:exon:p.R614H (human) 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:10043106|PMID:11801682 20150513 RGD protein:alternative form:synovium 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis ISO RGD:1552871 D RGD:10043101|PMID:23982761 20150513 RGD 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1552871 D RGD:10043107|PMID:23954517 20150513 RGD 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis no_association ISO RGD:1343923 D RGD:10043105|PMID:18240210 20150513 RGD DNA:missense mutations:exon: (rs226794, rs2830585) (human) 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis treatment IMP D RGD:10043103|PMID:23546441 20150513 RGD 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:10003165|PMID:22084394 20150513 RGD 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:10043110|PMID:22432033 20150513 RGD associated with Bone Diseases, Metabolic 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:90 degenerative disc disease IEP D RGD:10043115|PMID:22394620 20150514 RGD 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:90 degenerative disc disease IEP D RGD:8661231|PMID:20948465 20150514 RGD mRNA:increased expression:intervertebral disk of cervical vertebra 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343923 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:9005369 Hepatomegaly ISO RGD:1343923 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:9006041 Osteoarthritis, Hip IEP D RGD:10043109|PMID:22670655 20150513 RGD mRNA:increased expression:cartilage 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1343923 D RGD:10043108|PMID:18830934 20150513 RGD 735196 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1552871 D RGD:10043104|PMID:24316289 20150513 RGD mRNA:increased expression:temporomandibular joint 735197 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:12858 Huntington's disease ISO RGD:1615640 D RGD:10412654|PMID:23659592 20151118 RGD 735197 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603533 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 735197 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:630 genetic disease ISO RGD:1603533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735197 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:8398 osteoarthritis IEP D RGD:10412653|PMID:20722027 20151118 RGD protein:increased expression:spinal cord 735197 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:9000039 Spinal Cord Injuries IEP D RGD:2316199|PMID:18930143 20151118 RGD mRNA:increased expression:spinal cord 735197 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:9007548 Leukoencephalomyelopathy ISO RGD:12345339 D RGD:9068941 20210604 OMIA Leukoencephalomyelopathy PMID:1429164|PMID:14510327|PMID:18371035|PMID:23531239|PMID:23690496|PMID:2735894|PMID:29643404|PMID:3727341|PMID:6730216|PMID:8434139|PMID:886368 735198 Spmip8 sperm microtubule inner protein 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 735198 Spmip8 sperm microtubule inner protein 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 735198 Spmip8 sperm microtubule inner protein 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 735198 Spmip8 sperm microtubule inner protein 8 gene DOID:630 genetic disease ISO RGD:1602955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735199 Yif1b Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1604767 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32006098|PMID:33103737 735199 Yif1b Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:7240710 20201223 OMIM 735199 Yif1b Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Kaya-Barakat-Masson syndrome PMID:32006098|PMID:33103737 735200 Pcdha5 protocadherin alpha 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347310 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735200 Pcdha5 protocadherin alpha 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735200 Pcdha5 protocadherin alpha 5 gene DOID:10283 prostate cancer ISO RGD:1347310 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735200 Pcdha5 protocadherin alpha 5 gene DOID:10487 Hirschsprung's disease ISO RGD:1347310 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735200 Pcdha5 protocadherin alpha 5 gene DOID:2228 thrombocytosis ISO RGD:1347310 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 735200 Pcdha5 protocadherin alpha 5 gene DOID:630 genetic disease ISO RGD:1347310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735200 Pcdha5 protocadherin alpha 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347310 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735200 Pcdha5 protocadherin alpha 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347310 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 735200 Pcdha5 protocadherin alpha 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735202 Arhgap27 Rho GTPase activating protein 27 gene DOID:630 genetic disease ISO RGD:1346833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735203 Tbx3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 735203 Tbx3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:7240710 20130221 OMIM 735203 Tbx3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ulnar-mammary syndrome PMID:12116211|PMID:12668170|PMID:16530712|PMID:16896345|PMID:17576681|PMID:19938096|PMID:25741868|PMID:28145909|PMID:28492532|PMID:30654152|PMID:31669645|PMID:9207801|PMID:9536098 735203 Tbx3 T-box transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345948 D RGD:151361120|PMID:27553355 20220223 RGD protein:increased expression:stomach (human) 735203 Tbx3 T-box transcription factor 3 gene DOID:2394 ovarian cancer ISO RGD:1345948 D RGD:2300329|PMID:17031801 20080912 RGD 735203 Tbx3 T-box transcription factor 3 gene DOID:50 thyroid gland disease ISO RGD:1345948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 735203 Tbx3 T-box transcription factor 3 gene DOID:5844 myocardial infarction IEP D RGD:5132891|PMID:19341743 20110607 RGD 735203 Tbx3 T-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1345948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12005433|PMID:25741868|PMID:28145909|PMID:28492532 735203 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1557562 D RGD:151361112|PMID:33577921 20220223 RGD 735203 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345948 D RGD:151361123|PMID:26922018 20220223 RGD human cells in mouse model 735203 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345948 D RGD:151361132|PMID:22811581 20220224 RGD human cells in mouse model 735203 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345948 D RGD:151361122|PMID:30578408 20220223 RGD protein:increased expression:liver (human) 735203 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345948 D RGD:151361114|PMID:29295731 20220223 RGD protein:increased expression:liver (human) 735203 Tbx3 T-box transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 735203 Tbx3 T-box transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345948 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 735203 Tbx3 T-box transcription factor 3 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1345948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 735203 Tbx3 T-box transcription factor 3 gene DOID:9007096 Stroke ISO RGD:1345948 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 735203 Tbx3 T-box transcription factor 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1345948 D RGD:1601419|PMID:10330342 20070419 RGD Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple 735203 Tbx3 T-box transcription factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21098263 735203 Tbx3 T-box transcription factor 3 gene DOID:9009007 Tooth Abnormalities ISO RGD:1345948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 735203 Tbx3 T-box transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345948 D RGD:151361126|PMID:25628943 20220224 RGD mRNA,protein:increased expression:colorectum (human) 735203 Tbx3 T-box transcription factor 3 gene DOID:9970 obesity ISO RGD:1345948 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Obesity PMID:28492532 735204 Panx1 Pannexin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease IEP D RGD:14995937|PMID:31630543 20191105 RGD 735204 Panx1 Pannexin 1 gene DOID:1059 intellectual disability ISO RGD:1347653 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735204 Panx1 Pannexin 1 gene DOID:630 genetic disease ISO RGD:1347653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735204 Panx1 Pannexin 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1347653 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 735204 Panx1 Pannexin 1 gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1347653 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 735204 Panx1 Pannexin 1 gene DOID:9005028 Oocyte Maturation Defect 7 ISO RGD:1347653 D RGD:7240710 20190911 OMIM 735204 Panx1 Pannexin 1 gene DOID:9005028 Oocyte Maturation Defect 7 ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 7 PMID:25741868|PMID:30918116 735204 Panx1 Pannexin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347653 D RGD:11554173 20190910 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 735205 Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:7240710 20150729 OMIM 735205 Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 PMID:16199547|PMID:17576681|PMID:24482476|PMID:27848944|PMID:28471035|PMID:28492532|PMID:9536098 735205 Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 735205 Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345801 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 735206 Yipf1 Yip1 domain family, member 1 gene DOID:630 genetic disease ISO RGD:1604013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735207 Acvr1b activin A receptor type 1B gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1349804 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 735207 Acvr1b activin A receptor type 1B gene DOID:0080600 COVID-19 ISO RGD:1349804 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735207 Acvr1b activin A receptor type 1B gene DOID:10534 stomach cancer ISO RGD:1349804 D RGD:151665490|PMID:32066878 20220324 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1349804 D RGD:151665490|PMID:32066878 20220324 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:1790 malignant mesothelioma ameliorates ISO RGD:1349804 D RGD:151665492|PMID:30061637 20220324 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:1598735|PMID:11248065 20061216 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:2317217|PMID:9714055 20100319 RGD mRNA:increased expression:pancreas 735207 Acvr1b activin A receptor type 1B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1349804 D RGD:151665491|PMID:22586632 20220324 RGD DNA:SNP:intron:rs12809597(human) 735207 Acvr1b activin A receptor type 1B gene DOID:4905 pancreatic carcinoma ISO RGD:1349804 D RGD:8554872 20170912 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11248065 735207 Acvr1b activin A receptor type 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1349804 D RGD:151665493|PMID:33880365 20220324 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:630 genetic disease ISO RGD:1349804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735207 Acvr1b activin A receptor type 1B gene DOID:9001929 Hypoglossal Nerve Injuries IEP D RGD:151665480|PMID:9013782 20220323 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:9007102 Myocardial Ischemia IEP D RGD:1580888|PMID:14993131 20061216 RGD 735207 Acvr1b activin A receptor type 1B gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1349804 D RGD:151665490|PMID:32066878 20220324 RGD associated with stomach cancer;mRNA:increased expression:stomach: 735208 Spata18 spermatogenesis associated 18 gene DOID:10283 prostate cancer ISO RGD:1606969 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735208 Spata18 spermatogenesis associated 18 gene DOID:630 genetic disease ISO RGD:1606969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735208 Spata18 spermatogenesis associated 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606969 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 735208 Spata18 spermatogenesis associated 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1606969 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 735209 Tmem19 transmembrane protein 19 gene DOID:630 genetic disease ISO RGD:1351529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735210 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:10283 prostate cancer ISO RGD:1601833 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735210 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:607 paraplegia ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 735210 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:630 genetic disease ISO RGD:1601833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735210 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:6846 familial melanoma ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 735212 Orc4 origin recognition complex, subunit 4 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1343496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21358631|PMID:21358632 735212 Orc4 origin recognition complex, subunit 4 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19809484|PMID:19904302|PMID:21981781|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:28492532 735212 Orc4 origin recognition complex, subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:7240710 20190424 OMIM 735212 Orc4 origin recognition complex, subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 PMID:11477602|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34008892 735212 Orc4 origin recognition complex, subunit 4 gene DOID:5419 schizophrenia ISO RGD:1343496 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 735212 Orc4 origin recognition complex, subunit 4 gene DOID:630 genetic disease ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase PMID:28492532 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:10283 prostate cancer ISO RGD:1351270 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:630 genetic disease ISO RGD:1351270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:670 amphetamine abuse ISO RGD:1351270 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:7240710 20230215 OMIM 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 85 PMID:25741868|PMID:34059922 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 735213 Usp48 ubiquitin specific peptidase 48 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351270 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 735214 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1605885 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 735214 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 735214 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1605885 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735214 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735214 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:905 Zellweger syndrome ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 735215 Chrdl1 chordin-like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:11554173 20230516 CTD CTD Direct Evidence: marker/mechanism 735215 Chrdl1 chordin-like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784 735215 Chrdl1 chordin-like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349204 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 735215 Chrdl1 chordin-like 1 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1349204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 735215 Chrdl1 chordin-like 1 gene DOID:12849 autistic disorder ISO RGD:1349204 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735215 Chrdl1 chordin-like 1 gene DOID:5419 schizophrenia ISO RGD:1349204 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 735215 Chrdl1 chordin-like 1 gene DOID:630 genetic disease ISO RGD:1349204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735216 Pcdhac2 protocadherin alpha subfamily C, 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346435 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 735216 Pcdhac2 protocadherin alpha subfamily C, 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735216 Pcdhac2 protocadherin alpha subfamily C, 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1346435 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 735216 Pcdhac2 protocadherin alpha subfamily C, 2 gene DOID:630 genetic disease ISO RGD:1346435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735216 Pcdhac2 protocadherin alpha subfamily C, 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346435 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735216 Pcdhac2 protocadherin alpha subfamily C, 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 735219 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 735219 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1343601 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 735219 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 gene DOID:1059 intellectual disability ISO RGD:1343601 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 735219 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 gene DOID:630 genetic disease ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 735220 Mvb12a multivesicular body subunit 12A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604253 D RGD:8554872 20180918 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 735220 Mvb12a multivesicular body subunit 12A gene DOID:630 genetic disease ISO RGD:1604253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:630 genetic disease ISO RGD:1606532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1606532 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606532 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 735221 Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 735222 Nob1 NIN1 (RPN12) binding protein 1 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 735222 Nob1 NIN1 (RPN12) binding protein 1 homolog gene DOID:630 genetic disease ISO RGD:1603053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735222 Nob1 NIN1 (RPN12) binding protein 1 homolog gene DOID:9002910 Hearing Loss, Noise-Induced IEP D RGD:10766449|PMID:21219967 20160205 RGD mRNA:increased expression:cochlea 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050800 creatine transporter deficiency ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347094 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1347094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21115542 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:12791265|PMID:16333836 20170301 RGD DNA:mutation:splicing site: 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:7240710 20130221 OMIM 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:117248|PMID:12045264|PMID:14726382|PMID:15100680|PMID:15229184|PMID:15833888|PMID:16228229|PMID:16333836|PMID:16379012|PMID:16532398|PMID:16818673|PMID:16950813|PMID:17072331|PMID:17910706|PMID:18179816|PMID:18222329|PMID:18851874|PMID:19903677|PMID:21622647|PMID:24682681|PMID:25068423|PMID:25741868|PMID:26117626|PMID:28993958|PMID:29077208|PMID:30422821|PMID:31965418|PMID:33224153|PMID:8169255 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1347094 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:7240710 20130221 OMIM 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:11047757|PMID:11179023|PMID:11484156|PMID:11590134|PMID:12459250|PMID:15229184|PMID:15356572|PMID:15577852|PMID:15833888|PMID:16532398|PMID:16818673|PMID:16950813|PMID:18179816|PMID:18222329|PMID:25068423|PMID:25741868|PMID:28993958|PMID:29534156|PMID:30422821|PMID:31965418|PMID:33224153|PMID:8169255 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:12791266|PMID:15833158 20170301 RGD DNA:deletion:exons: 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:1600008|PMID:10839543 20070223 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:7240710 20130221 OMIM 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:10839543|PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:18222329|PMID:18350553|PMID:20412081|PMID:20499091|PMID:25741868|PMID:27368913|PMID:31965418|PMID:8169255|PMID:9450877 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12365 malaria ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12849 autistic disorder ISO RGD:1347094 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13241 Behcet's disease ISO RGD:1347094 D RGD:12791269|PMID:20412081 20170301 RGD DNA:missense mutation:cds:1217A>T(D406V)(human) 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13628 favism ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10502785|PMID:10627140|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:18046504|PMID:18177777|PMID:1945893|PMID:19589177|PMID:21446359|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34989400|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2237 hepatitis ISO RGD:1620111 D RGD:153297807|PMID:29551768 20220727 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2237 hepatitis ISO RGD:1620111 D RGD:153305943|PMID:25173965 20220810 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3156 hypomelanosis of Ito ISO RGD:1347094 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:10839543|PMID:11047757|PMID:11179023|PMID:11224521|PMID:11242109|PMID:11484156|PMID:11590134|PMID:18222329|PMID:18350553|PMID:20412081|PMID:20499091|PMID:25741868|PMID:27368913|PMID:31965418|PMID:8169255|PMID:9450877 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3571 liver cancer ISO RGD:1347094 D RGD:153305911|PMID:27367027 20220809 RGD human cells in mouse model 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:607 paraplegia ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:630 genetic disease ISO RGD:1347094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29077208|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1347094 D RGD:153297813|PMID:22176836 20220727 RGD protein:decreased expression:liver (human) 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1347094 D RGD:153305943|PMID:25173965 20220810 RGD protein:decreased expression:liver (human) 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1620111 D RGD:153297807|PMID:29551768 20220727 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1620111 D RGD:153305945|PMID:17292824 20220810 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1620111 D RGD:11079569|PMID:24971483 20220810 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1620111 D RGD:153305947|PMID:22922425 20220810 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8677 perinatal necrotizing enterocolitis treatment IDA D RGD:12791281|PMID:17426653 20170303 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8927 learning disability ISO RGD:1347094 D RGD:12791267|PMID:24489960 20170301 RGD associated with Incontinentia Pigmenti;DNA:deletion:exons: 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347094 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347094 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ISO RGD:1347094 D RGD:7240710 20220810 OMIM 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ISO RGD:1347094 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED PMID:25741868|PMID:31874111|PMID:35289316 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002159 Liver Reperfusion Injury treatment IDA D RGD:12791280|PMID:22381173 20170303 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002457 Experimental Arthritis treatment IDA D RGD:12791276|PMID:16684367 20170303 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:1347094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9005172 Lung Neoplasms ISO RGD:1347094 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9006263 Experimental Pancreatitis treatment IDA D RGD:12791282|PMID:19195057 20170303 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9256 colorectal cancer ISO 1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9408 acute myocardial infarction ameliorates IEP D RGD:267358468|PMID:32068187 20230418 RGD 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9452 fatty liver disease ISS RGD:1620111 D RGD:13592920 20180518 MouseDO OMIM:228100 735223 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9778 irritable bowel syndrome treatment IDA D RGD:12791275|PMID:22428658 20170303 RGD 735224 Nudt22 nudix hydrolase 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 735224 Nudt22 nudix hydrolase 22 gene DOID:1059 intellectual disability ISO RGD:1601846 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735224 Nudt22 nudix hydrolase 22 gene DOID:3070 high grade glioma ISO RGD:1601846 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Ependymoma 735224 Nudt22 nudix hydrolase 22 gene DOID:630 genetic disease ISO RGD:1601846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735225 Serping1 serpin family G member 1 gene DOID:0080162 lupus nephritis ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:4014294 735225 Serping1 serpin family G member 1 gene DOID:0080600 COVID-19 severity ISO RGD:1344082 D RGD:38500238|PMID:32747830 20200812 RGD DNA:SNP: : 735225 Serping1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1644161|PMID:15806011|PMID:18387221 735225 Serping1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:7240710 20180418 OMIM 735225 Serping1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency PMID:12402344|PMID:1339401|PMID:1363816|PMID:1451784|PMID:16813612|PMID:1684567|PMID:17137866|PMID:17576681|PMID:18586324|PMID:18758157|PMID:1885769|PMID:20804470|PMID:20864152|PMID:21832835|PMID:22129507|PMID:2296585|PMID:22994404|PMID:23437219|PMID:2365061|PMID:24033266|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26812872|PMID:2723063|PMID:28194776|PMID:28359783|PMID:28492532|PMID:2890659|PMID:29343682|PMID:29753808|PMID:30398465|PMID:30508583|PMID:30847342|PMID:3178731|PMID:31959500|PMID:31982983|PMID:32065705|PMID:33034800|PMID:3587308|PMID:8396558|PMID:8755917|PMID:9536098 735225 Serping1 serpin family G member 1 gene DOID:0080941 acquired angioedema ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9734886|PMID:23406939 735225 Serping1 serpin family G member 1 gene DOID:0080998 acute necrotizing pancreatitis IEP D RGD:8661651|PMID:10360224 20140611 RGD protein:decreased expression:plasma 735225 Serping1 serpin family G member 1 gene DOID:1059 intellectual disability ISO RGD:1344082 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735225 Serping1 serpin family G member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344082 D RGD:8661646|PMID:8172580 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:14735 hereditary angioedema ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:9734886|PMID:19477491|PMID:23406939|PMID:23634741|PMID:23844784|PMID:23866957 735225 Serping1 serpin family G member 1 gene DOID:14735 hereditary angioedema ISO RGD:1344082 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema 735225 Serping1 serpin family G member 1 gene DOID:14735 hereditary angioedema ISO RGD:1344082 D RGD:8661260|PMID:15356570 20140610 RGD 735225 Serping1 serpin family G member 1 gene DOID:14735 hereditary angioedema treatment ISO RGD:1344082 D RGD:8661265|PMID:22800873 20140610 RGD 735225 Serping1 serpin family G member 1 gene DOID:1558 angioedema ISO RGD:1344082 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Angioedema 735225 Serping1 serpin family G member 1 gene DOID:1558 angioedema susceptibility ISO RGD:1344082 D RGD:1600545|PMID:12402344 20070313 RGD DNA:mutations:exon 735225 Serping1 serpin family G member 1 gene DOID:3068 glioblastoma treatment IMP D RGD:13525003|PMID:28880870 20180502 RGD 735225 Serping1 serpin family G member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:1344082 D RGD:8661653|PMID:10446335 20140611 RGD associated with Venous Thrombosis 735225 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:8661263|PMID:21852020 20140610 RGD 735225 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:8661638|PMID:20576771 20140611 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) 735225 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:8661264|PMID:19169411 20140610 RGD DNA:SNPs: :multiple 735225 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:8661639|PMID:21526158 20140611 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) 735225 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:8661640|PMID:20606025 20140611 RGD DNA:SNP:intron:c.1029+312T>C (rs11603020) (human) 735225 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1344082 D RGD:8661640|PMID:20606025 20140611 RGD DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human) 735225 Serping1 serpin family G member 1 gene DOID:4989 pancreatitis treatment ISO RGD:1344082 D RGD:8661649|PMID:9176084 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:5082 liver cirrhosis ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 735225 Serping1 serpin family G member 1 gene DOID:630 genetic disease ISO RGD:1344082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:16470590|PMID:17576681|PMID:18586324|PMID:18758157|PMID:21864911|PMID:22994404|PMID:23123409|PMID:23437219|PMID:2365061|PMID:24033266|PMID:24456027|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26535898|PMID:28492532|PMID:29753808|PMID:3178731|PMID:3756141|PMID:8125476|PMID:9536098 735225 Serping1 serpin family G member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1344082 D RGD:8661641|PMID:24494798 20140611 RGD protein:increased expression:urine 735225 Serping1 serpin family G member 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:1344082 D RGD:8661645|PMID:17538891 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9000728 Traumatic Shock treatment ISO RGD:1344082 D RGD:8661648|PMID:9377162 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9001488 Human Influenza ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 735225 Serping1 serpin family G member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1344082 D RGD:1580273|PMID:16367929 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:7240710 20130221 OMIM 735225 Serping1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:8554872 20141028 ClinVar ClinVar Annotator: match by term: Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor PMID:7883978 735225 Serping1 serpin family G member 1 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:1344082 D RGD:6484131|PMID:21779364 20140611 RGD associated with Stroke 735225 Serping1 serpin family G member 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:1344082 D RGD:8661644|PMID:23991040 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9004347 Skeletal Muscle Reperfusion Injury treatment ISO RGD:1344082 D RGD:13525001|PMID:29395422 20180502 RGD 735225 Serping1 serpin family G member 1 gene DOID:9004347 Skeletal Muscle Reperfusion Injury treatment ISO RGD:1344082 D RGD:13542089|PMID:24585935 20180508 RGD 735225 Serping1 serpin family G member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1344082 D RGD:8661650|PMID:11685347 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344082 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 735225 Serping1 serpin family G member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1344082 D RGD:13525005|PMID:27153875 20180502 RGD associated with Myocardial Infarction 735225 Serping1 serpin family G member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1344082 D RGD:8661643|PMID:18652771 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344082 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 735225 Serping1 serpin family G member 1 gene DOID:9007730 Burns treatment ISO RGD:1344082 D RGD:6903314|PMID:22447201 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1344082 D RGD:8661647|PMID:16942749 20140611 RGD 735225 Serping1 serpin family G member 1 gene DOID:9408 acute myocardial infarction IEP D RGD:11552746|PMID:26476955 20180504 RGD mRNA:increased expression:heart 735225 Serping1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:1344082 D RGD:11552746|PMID:26476955 20180504 RGD 735226 Popdc2 popeye domain containing 2 gene DOID:630 genetic disease ISO RGD:1352577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735227 Gaa alpha glucosidase gene DOID:0050700 cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25466677|PMID:25741868|PMID:27183828|PMID:28492532|PMID:29149851|PMID:31076647 735227 Gaa alpha glucosidase gene DOID:0060698 hyperekplexia 3 ISO RGD:1353184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:17723315|PMID:19588081|PMID:22658377|PMID:25681614|PMID:25741868|PMID:28492532|PMID:31086307|PMID:7981676|PMID:9535769 735227 Gaa alpha glucosidase gene DOID:0080000 muscular disease ISO RGD:1353184 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 735227 Gaa alpha glucosidase gene DOID:0080600 COVID-19 ISO RGD:1353184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735227 Gaa alpha glucosidase gene DOID:0081329 glycogen storage disease I ISO RGD:1353184 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency 735227 Gaa alpha glucosidase gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1353184 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:24033266|PMID:25741868|PMID:28492532 735227 Gaa alpha glucosidase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 735227 Gaa alpha glucosidase gene DOID:10976 membranous glomerulonephritis ISO RGD:1353184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15466083 735227 Gaa alpha glucosidase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 735227 Gaa alpha glucosidase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353184 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22644586|PMID:25741868|PMID:28492532 735227 Gaa alpha glucosidase gene DOID:12930 dilated cardiomyopathy ISO RGD:1353184 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 735227 Gaa alpha glucosidase gene DOID:2747 glycogen storage disease ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17092519|PMID:18458862|PMID:19790257|PMID:19862843|PMID:20202878|PMID:21232767|PMID:21471980|PMID:21757382|PMID:23430493|PMID:23884227|PMID:24033266|PMID:24444888|PMID:25093132|PMID:25213570|PMID:25526786|PMID:25741868|PMID:27099502|PMID:27363342|PMID:28433475|PMID:28492532|PMID:29124014|PMID:29451150|PMID:30275481|PMID:30943998|PMID:31589614|PMID:31931849|PMID:31953985|PMID:31980526|PMID:32126021|PMID:33673364|PMID:34020684|PMID:7981676|PMID:9535769 735227 Gaa alpha glucosidase gene DOID:2749 glycogen storage disease Ia ISO RGD:1353184 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis 735227 Gaa alpha glucosidase gene DOID:2750 glycogen storage disease IV ISO RGD:1353184 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 735227 Gaa alpha glucosidase gene DOID:2750 glycogen storage disease IV treatment ISO RGD:1550659 D RGD:25671409|PMID:27747161 20200427 RGD 735227 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11328962|PMID:15466083|PMID:18176891|PMID:21644219|PMID:21963784 735227 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:7240710 20130221 OMIM 735227 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10189220|PMID:10206684|PMID:10338092|PMID:10377006|PMID:10528311|PMID:10737124|PMID:11053688|PMID:11071489|PMID:1109266|PMID:11343339|PMID:11738358|PMID:11854846|PMID:11854868|PMID:11927738|PMID:11949932|PMID:12213618|PMID:12601120|PMID:12897283|PMID:12923862|PMID:14643388|PMID:14695532|PMID:14972326|PMID:15048888|PMID:15121988|PMID:15145338|PMID:15366815|PMID:15501829|PMID:15668445|PMID:15986226|PMID:16199547|PMID:16433701|PMID:16478160|PMID:1652892|PMID:16531044|PMID:16580018|PMID:16702877|PMID:16782080|PMID:16838077|PMID:16857770|PMID:16860134|PMID:16917947|PMID:17027861|PMID:17041744|PMID:17056254|PMID:17092519|PMID:17095274|PMID:17151339|PMID:17210890|PMID:17213836|PMID:17573812|PMID:17576681|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17805474|PMID:17881425|PMID:17915575|PMID:18211760|PMID:18285536|PMID:18301443|PMID:18414213|PMID:18425781|PMID:18429042|PMID:18434155|PMID:18458862|PMID:18495398|PMID:18505979|PMID:18535739|PMID:1856189|PMID:18607768|PMID:1862843|PMID:18757064|PMID:1895140|PMID:1898413|PMID:18995995|PMID:19067231|PMID:19206169|PMID:19343043|PMID:19472353|PMID:19588081|PMID:19609281|PMID:19775921|PMID:19790257|PMID:19862843|PMID:19948615|PMID:19966354|PMID:20033296|PMID:20080426|PMID:20202878|PMID:20301438|PMID:20308911|PMID:20350966|PMID:20437613|PMID:20464284|PMID:20472203|PMID:20559845|PMID:20638881|PMID:20817528|PMID:20826098|PMID:20830524|PMID:21039225|PMID:21109266|PMID:2111708|PMID:21179066|PMID:21216089|PMID:21228398|PMID:21232767|PMID:21439876|PMID:21471980|PMID:21484825|PMID:21488246|PMID:21488291|PMID:21488292|PMID:21550241|PMID:21605996|PMID:21637107|PMID:21644219|PMID:21676566|PMID:21687968|PMID:21704464|PMID:21757382|PMID:21803581|PMID:21889385|PMID:21920843|PMID:21926084|PMID:21940687|PMID:21967859|PMID:21972175|PMID:21982629|PMID:21984055|PMID:22002441|PMID:22027144|PMID:2203258|PMID:22081099|PMID:22133539|PMID:22185990|PMID:22194990|PMID:22196155|PMID:22237443|PMID:22252923|PMID:22253258|PMID:22365055|PMID:22521436|PMID:2252923|PMID:22538254|PMID:22555271|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22658377|PMID:22676651|PMID:22704482|PMID:22711147|PMID:22791670|PMID:22958975|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23013746|PMID:23062590|PMID:23146291|PMID:23147228|PMID:23160972|PMID:23266370|PMID:23350563|PMID:23402890|PMID:23417379|PMID:23418865|PMID:23430493|PMID:23430500|PMID:23430560|PMID:23430847|PMID:23430912|PMID:23430949|PMID:23463700|PMID:23566438|PMID:23601496|PMID:23632029|PMID:23632174|PMID:23668440|PMID:23757202|PMID:23787031|PMID:23825616|PMID:23843830|PMID:23884227|PMID:24008051|PMID:24008937|PMID:24011652|PMID:24016645|PMID:24027232|PMID:24033266|PMID:24107549|PMID:24150945|PMID:24158270|PMID:24169249|PMID:24190153|PMID:24215330|PMID:24245577|PMID:24269976|PMID:24273659|PMID:24337590|PMID:24338761|PMID:24383498|PMID:24384324|PMID:24395639|PMID:24399866|PMID:24444888|PMID:24495340|PMID:24513544|PMID:24590251|PMID:24627108|PMID:24715333|PMID:24844452|PMID:24872213|PMID:24923245|PMID:24976573|PMID:25026126|PMID:25036864|PMID:25037089|PMID:25052852|PMID:25093132|PMID:2510307|PMID:25103075|PMID:25139343|PMID:25155446|PMID:25213570|PMID:25243733|PMID:25326635|PMID:25356970|PMID:25388776|PMID:25396301|PMID:25409744|PMID:25444528|PMID:25451853|PMID:25455803|PMID:25466677|PMID:25488666|PMID:25525159|PMID:25526786|PMID:25544546|PMID:25612604|PMID:25614309|PMID:25626711|PMID:25673129|PMID:25681614|PMID:25687148|PMID:25687635|PMID:25703594|PMID:25712382|PMID:25741864|PMID:25741868|PMID:25752415|PMID:25758767|PMID:25783438|PMID:25786784|PMID:25846667|PMID:25973016|PMID:25998610|PMID:26031770|PMID:26160551|PMID:26167453|PMID:26199952|PMID:26231297|PMID:26253708|PMID:26310554|PMID:26349193|PMID:26467025|PMID:26497565|PMID:26572913|PMID:26575883|PMID:26594346|PMID:26693141|PMID:26800218|PMID:26830551|PMID:26873529|PMID:26913919|PMID:26946079|PMID:27008195|PMID:27099502|PMID:27142047|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27193587|PMID:27238910 735227 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:27344650|PMID:27363342|PMID:27417441|PMID:27460347|PMID:27623443|PMID:27649523|PMID:27666774|PMID:27692865|PMID:27708273|PMID:27711114|PMID:27896092|PMID:27927596|PMID:28032299|PMID:28182897|PMID:28196920|PMID:28394184|PMID:28433475|PMID:28450385|PMID:28490439|PMID:28492532|PMID:28554557|PMID:28592009|PMID:28600779|PMID:28624228|PMID:28648663|PMID:28657663|PMID:28694071|PMID:28763149|PMID:28814660|PMID:28838325|PMID:28900456|PMID:28951071|PMID:28957316|PMID:29044175|PMID:29046207|PMID:29061980|PMID:29122469|PMID:29124014|PMID:29143201|PMID:29149851|PMID:29181627|PMID:29205646|PMID:29289479|PMID:29315315|PMID:29325298|PMID:29326002|PMID:29390460|PMID:29422078|PMID:29428273|PMID:29451150|PMID:29523196|PMID:29556838|PMID:29573408|PMID:29637184|PMID:29653542|PMID:29869463|PMID:29880332|PMID:29889338|PMID:29946513|PMID:30022036|PMID:30023291|PMID:30049495|PMID:30076350|PMID:30093193|PMID:30105547|PMID:30155607|PMID:30214072|PMID:30275481|PMID:30281819|PMID:30293248|PMID:30314719|PMID:30360039|PMID:30371346|PMID:30414707|PMID:30442156|PMID:3049072|PMID:30510819|PMID:30564623|PMID:30655185|PMID:30711607|PMID:30737479|PMID:30778879|PMID:30827497|PMID:30897595|PMID:30943998|PMID:31076647|PMID:31086307|PMID:31130284|PMID:31193175|PMID:31228295|PMID:31254424|PMID:31301153|PMID:31342611|PMID:31392188|PMID:31395954|PMID:31439017|PMID:31467850|PMID:31510962|PMID:31589614|PMID:31606152|PMID:31619483|PMID:31637888|PMID:31676142|PMID:31710733|PMID:31729605|PMID:31743840|PMID:31847883|PMID:31875618|PMID:31899940|PMID:31904026|PMID:31915562|PMID:31931849|PMID:31953985|PMID:31965297|PMID:31980526|PMID:32012848|PMID:32014045|PMID:32064362|PMID:32071926|PMID:32125626|PMID:32126021|PMID:32248831|PMID:32317649|PMID:32504392|PMID:32518148|PMID:32528171|PMID:32711049|PMID:32721234|PMID:32802993|PMID:32821428|PMID:32860008|PMID:32888769|PMID:33013846|PMID:33073003|PMID:33073007|PMID:33073027|PMID:33202836|PMID:33250842|PMID:33301762|PMID:33393119|PMID:33552729|PMID:33560568|PMID:33673364|PMID:33717985|PMID:33741225|PMID:33972680|PMID:33996274|PMID:34020684|PMID:34220802|PMID:34426522|PMID:34539730|PMID:34602496|PMID:34639227|PMID:34647686|PMID:34852371|PMID:34864681|PMID:34906502|PMID:34995642|PMID:36310651|PMID:5614309|PMID:7603530|PMID:7668832|PMID:7695647|PMID:7717400|PMID:7866409|PMID:7881422|PMID:7881425|PMID:7945303|PMID:7981676|PMID:8094613|PMID:8401535|PMID:8429042|PMID:8435067|PMID:8558570|PMID:8604985|PMID:8834250|PMID:8912788|PMID:8935410|PMID:8990003|PMID:9196050|PMID:9259196|PMID:9266392|PMID:9425285|PMID:9521422|PMID:9529346|PMID:9535769|PMID:9536098|PMID:9554747|PMID:9660056|PMID:9950376 735227 Gaa alpha glucosidase gene DOID:2843 long QT syndrome ISO RGD:1353184 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 735227 Gaa alpha glucosidase gene DOID:423 myopathy ISO RGD:1353184 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 735227 Gaa alpha glucosidase gene DOID:630 genetic disease ISO RGD:1353184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11071489|PMID:12213618|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18425781|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21484825|PMID:21550241|PMID:21967859|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28196920|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 735227 Gaa alpha glucosidase gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353184 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:29149851 735227 Gaa alpha glucosidase gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1353184 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM PMID:11071489|PMID:14643388|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16838077|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18414213|PMID:18425781|PMID:18458862|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20080426|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:2111708|PMID:21228398|PMID:21439876|PMID:21471980|PMID:21550241|PMID:21967859|PMID:2203258|PMID:22194990|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22676651|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23417379|PMID:23668440|PMID:23757202|PMID:24008051|PMID:24008937|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24269976|PMID:24444888|PMID:24590251|PMID:24844452|PMID:25052852|PMID:2510307|PMID:25103075|PMID:25213570|PMID:25356970|PMID:25466677|PMID:25526786|PMID:25681614|PMID:25741868|PMID:25846667|PMID:25998610|PMID:26231297|PMID:26467025|PMID:26800218|PMID:26946079|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27363342|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28624228|PMID:28694071|PMID:28951071|PMID:29124014|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31076647|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:33073003|PMID:33073007|PMID:33202836|PMID:33741225|PMID:34906502|PMID:36310651|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8401535|PMID:8558570|PMID:8912788|PMID:8990003|PMID:9425285|PMID:9521422 735227 Gaa alpha glucosidase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1353184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 735227 Gaa alpha glucosidase gene DOID:9006475 Glycoprotein Storage Disease ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycoprotein storage disease PMID:19588081|PMID:22644586|PMID:24444888|PMID:25526786|PMID:25741868|PMID:28492532|PMID:30155607|PMID:30564623 735227 Gaa alpha glucosidase gene DOID:9007039 Ventricular Dysfunction ISO RGD:1353184 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 735227 Gaa alpha glucosidase gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1353184 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:11071489|PMID:14695532|PMID:15986226|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17881425|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 735227 Gaa alpha glucosidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 735227 Gaa alpha glucosidase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353184 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 735227 Gaa alpha glucosidase gene DOID:9884 muscular dystrophy ISO RGD:1353184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 735229 Mrps18a mitochondrial ribosomal protein S18A gene DOID:0050444 infantile Refsum disease ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 735229 Mrps18a mitochondrial ribosomal protein S18A gene DOID:630 genetic disease ISO RGD:1346345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735229 Mrps18a mitochondrial ribosomal protein S18A gene DOID:905 Zellweger syndrome ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 735230 Washc2c WASH complex subunit 2C gene DOID:630 genetic disease ISO RGD:1349964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:7240710 20130221 OMIM 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18414213|PMID:18551016|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21318381 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:1302858|PMID:10657297 19990101 RGD DNA:missense mutations, nonsense mutations:cds:multiple (human) 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:30273935|PMID:30484866|PMID:32035780|PMID:34012134|PMID:34906457|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29777207|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12811540|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:28492532|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32741965|PMID:33748650|PMID:34012134 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:7240710 20130425 OMIM 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:27986441|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0080600 COVID-19 ISO RGD:1345704 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1345704 D RGD:8554872 20150618 ClinVar ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy PMID:26008905 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:1059 intellectual disability ISO RGD:1345704 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:10907 microcephaly ISO RGD:1345704 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:12704 ataxia telangiectasia ISO RGD:1345704 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:1909 melanoma ISO RGD:1345704 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:4450 renal cell carcinoma ISO RGD:1345704 D RGD:6907134|PMID:21771581 20121030 RGD 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:630 genetic disease ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21318381|PMID:22041456|PMID:22138625 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002162 Carotid Body Tumor ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carotid body paraganglioma PMID:11391796|PMID:15066320|PMID:17576205|PMID:19351833|PMID:19454582|PMID:21945342|PMID:22241717|PMID:28492532 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:7240710 20190130 OMIM 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25791839|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28255624|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:31212687|PMID:32035780|PMID:32741965|PMID:33362715|PMID:33397040|PMID:33748650|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002449 Glomus Jugulare Tumor ISO RGD:1345704 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Glomus tumors familial 1 PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:18678321|PMID:18692411|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:7240710 20210203 OMIM 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 PMID:10657297|PMID:11156372|PMID:11526495|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:15032977|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24367056|PMID:24728327|PMID:24886695|PMID:25149476|PMID:25741868|PMID:26008905|PMID:26467025|PMID:27153395|PMID:28492532|PMID:34012134 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12811540|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:28492532|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30951038|PMID:31194233|PMID:32741965|PMID:33748650|PMID:34012134 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003626 Paragangliomas 3 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345704 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoid tumors, intestinal PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:14557476|PMID:15623805|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22703879|PMID:23175444|PMID:24728327|PMID:25149476|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26467025|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:29386252|PMID:29792313 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1345704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897817|PMID:12000816|PMID:12114404|PMID:12218630|PMID:12509798|PMID:12782822|PMID:12807974|PMID:12811540|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27279923|PMID:27634942|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29777207|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9006360 Paragangliomas with Sensorineural Hearing Loss ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29792313|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:34906457|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9008037 Paragangliomas 4 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 735231 Sdhd succinate dehydrogenase complex subunit D gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 7364940 F344-Tp53tm1(EGFP-Pac)Qly/Rrrc strain DOID:3347 osteosarcoma IMP D RGD:12738450|PMID:27528400 20210428 RGD 7364940 F344-Tp53tm1(EGFP-Pac)Qly/Rrrc strain DOID:7614 meninges sarcoma IMP D RGD:12738450|PMID:27528400 20210428 RGD 737657 LEW.1AV1 strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292|XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 737658 PVG.1AV1 Piebald-Virol-Glaxo strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292 D RGD:2306736|PMID:15342198 20200603 RGD 737658 PVG.1AV1 Piebald-Virol-Glaxo strain DOID:9006647 Experimental Autoimmune Neuritis penetrance IAGP XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 737690 F344/Crli strain DOID:9001586 Experimental Liver Neoplasms induced IAGP XCO:0000206 D RGD:1599590|PMID:17079458 20191120 RGD 737690 F344/Crli strain DOID:9001586 Experimental Liver Neoplasms severity IAGP D RGD:2315050|PMID:19533683 20220706 RGD compared to BN strain 737691 BN/Crli strain DOID:9001586 Experimental Liver Neoplasms induced IAGP XCO:0000206 D RGD:1599590|PMID:17079458 20070314 RGD 737818 Hcar12 Hepatocarcinoma resistance QTL 12 qtl DOID:684 hepatocellular carcinoma IDA D RGD:629566|PMID:12154055 19990101 RGD 737818 Hcar12 Hepatocarcinoma resistance QTL 12 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629566|PMID:12154055 20121015 RGD 737819 Hcas4 Hepatocarcinoma susceptibility QTL 4 qtl DOID:684 hepatocellular carcinoma IDA D RGD:629566|PMID:12154055 19990101 RGD 737819 Hcas4 Hepatocarcinoma susceptibility QTL 4 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629566|PMID:12154055 20121015 RGD 737820 Alc9 Alcohol consumption QTL 9 qtl DOID:1574 alcohol use disorder IDA D RGD:731212|PMID:14634485 19990101 RGD 737821 Hcar9 Hepatocarcinoma resistance QTL 9 qtl DOID:684 hepatocellular carcinoma IDA D RGD:629566|PMID:12154055 19990101 RGD 737821 Hcar9 Hepatocarcinoma resistance QTL 9 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629566|PMID:12154055 20121015 RGD 737822 Alc10 Alcohol consumption QTL 10 qtl DOID:1574 alcohol use disorder IDA D RGD:731212|PMID:14634485 19990101 RGD 737823 Alc12 Alcohol consumption QTL 12 qtl DOID:1574 alcohol use disorder IDA D RGD:731212|PMID:14634485 19990101 RGD 737824 Hcar10 Hepatocarcinoma resistance QTL 10 qtl DOID:684 hepatocellular carcinoma IDA D RGD:629566|PMID:12154055 19990101 RGD 737824 Hcar10 Hepatocarcinoma resistance QTL 10 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629566|PMID:12154055 20121015 RGD 737825 Alc13 Alcohol consumption QTL 13 qtl DOID:1574 alcohol use disorder IDA D RGD:731212|PMID:14634485 19990101 RGD 737826 Alc11 Alcohol consumption QTL 11 qtl DOID:1574 alcohol use disorder IDA D RGD:731212|PMID:14634485 19990101 RGD 737827 Hcar11 Hepatocarcinoma resistance QTL 11 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629566|PMID:12154055 20121015 RGD 737828 Hcas3 Hepatocarcinoma susceptibility QTL 3 qtl DOID:684 hepatocellular carcinoma IDA D RGD:629566|PMID:12154055 19990101 RGD 737828 Hcas3 Hepatocarcinoma susceptibility QTL 3 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:629566|PMID:12154055 20121015 RGD 737856 Edpm10 Estrogen-dependent pituitary mass QTL 10 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:61074|PMID:9337394 19990101 RGD 737857 DA.PVG.1AV1-(D4Rat155-D4Rat84) strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000263|XCO:0000280|XCO:0000281,XCO:0000265|XCO:0000266 D RGD:629560|PMID:12571866 20191202 RGD compared to DA/ZtmKini 737858 DA.PVG.1AV1-(D4Rat155-Spr) strain DOID:9002457 Experimental Arthritis susceptibility IAGP XCO:0000281,XCO:0000265|XCO:0000263 D RGD:629560|PMID:12571866 20191202 RGD compared to PVG.1AV1/Kini 737859 DA.PVG.1AV1-(D4Mgh17-D4Rat56) strain DOID:9002457 Experimental Arthritis IAGP XCO:0000281,XCO:0000265 D RGD:629560|PMID:12571866 19990101 RGD compared to PVG.1AV1/Kini 737861 DA.PVG.1AV1-(D4Rat63-D4Rat203) strain DOID:9002457 Experimental Arthritis severity IAGP XCO:0000281,XCO:0000265|XCO:0000280 D RGD:629560|PMID:12571866 20191202 RGD compared to DA/ZtmKini 737861 DA.PVG.1AV1-(D4Rat63-D4Rat203) strain DOID:9002457 Experimental Arthritis susceptibility IAGP XCO:0000263 D RGD:629560|PMID:12571866 19990101 RGD compared to PVG.1AV1/Kini 737864 SS.SR-(D13Mit9-D13Mit1)/Jr strain DOID:9006024 Hypotension induced IAGP XCO:0000022 D RGD:61047|PMID:9271663 19990101 RGD compared to SS/Jr 737871 DA.E3-(D12Got46-D12Rat26)/Rhd strain DOID:7148 rheumatoid arthritis IAGP D RGD:628543|PMID:12461526 20220531 RGD compared to DA and E3 strains 737873 DA.E3-(D6Wox5-D6Rat90)/Rhd strain DOID:848 arthritis IAGP D RGD:728382|PMID:14611807 19990101 RGD 737891 Crl:SD strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 737892 ACI/SegHsd strain DOID:0050860 colorectal adenoma induced IAGP XCO:0000393 D RGD:1625309|PMID:17510081 20200316 RGD 737892 ACI/SegHsd strain DOID:12700 hyperprolactinemia induced IAGP XCO:0000092 D RGD:1358963|PMID:10688907 20200327 RGD 737892 ACI/SegHsd strain DOID:9002221 Hyperplasia induced IAGP XCO:0000092 D RGD:1358963|PMID:10688907 20200327 RGD lobuloalveolar hyperplasia 737892 ACI/SegHsd strain DOID:9002234 Pituitary Neoplasms induced IAGP XCO:0000295 D RGD:1358974|PMID:10342874 20200313 RGD 737892 ACI/SegHsd strain DOID:9005233 Experimental Mammary Neoplasms induced IAGP XCO:0000092 D RGD:1358956|PMID:11713205 19990101 RGD 737892 ACI/SegHsd strain DOID:9008939 Breast Neoplasms MODEL: induced IAGP XCO:0000092 D RGD:1642522|PMID:16885383 20200317 RGD 737892 ACI/SegHsd strain DOID:9008939 Breast Neoplasms MODEL: induced IAGP XCO:0000092 D RGD:2292503|PMID:18420736 20200710 RGD compared to COP/CrCrl control 737892 ACI/SegHsd strain DOID:9008939 Breast Neoplasms MODEL:induced IAGP XCO:0000092 D RGD:7364727|PMID:23151807 20200319 RGD 737903 Hsd:SD Sprague Dawley strain DOID:0050851 glomerulosclerosis induced IAGP XCO:0000599,XCO:0000367,XCO:0000790 D RGD:6903837|PMID:12675855 20121003 RGD 737903 Hsd:SD Sprague Dawley strain DOID:10763 hypertension induced IAGP XCO:0000599,XCO:0000367,XCO:0000790 D RGD:6903837|PMID:12675855 20121003 RGD 737903 Hsd:SD Sprague Dawley strain DOID:2349 arteriosclerosis induced IAGP XCO:0000599,XCO:0000367,XCO:0000790 D RGD:6903837|PMID:12675855 20121003 RGD 737903 Hsd:SD Sprague Dawley strain DOID:9000784 Fibrosis induced IAGP XCO:0000599,XCO:0000367,XCO:0000790 D RGD:6903837|PMID:12675855 20121003 RGD 737903 Hsd:SD Sprague Dawley strain DOID:9001542 Albuminuria induced IAGP XCO:0000599,XCO:0000367,XCO:0000790 D RGD:6903837|PMID:12675855 20121003 RGD 737905 LEW/Maas strain DOID:576 proteinuria induced IAGP XCO:0000282 D RGD:2312422|PMID:18682577 20090812 RGD 737906 MWF/Hsd Munich Wistar Fromter strain DOID:10763 hypertension IAGP D RGD:25314268|PMID:19420905 20210329 RGD compared to LEW 737906 MWF/Hsd Munich Wistar Fromter strain DOID:1312 focal segmental glomerulosclerosis induces IAGP XCO:0000641 D RGD:24922219|PMID:22258067 20210709 RGD compared to control 737906 MWF/Hsd Munich Wistar Fromter strain DOID:576 proteinuria IAGP D RGD:24922219|PMID:22258067 20210709 RGD compared to WU 737906 MWF/Hsd Munich Wistar Fromter strain DOID:576 proteinuria IAGP D RGD:25314268|PMID:19420905 20210329 RGD compared to LEW and FHH 737908 WF/NHsd strain DOID:3459 breast carcinoma MODEL: induced IAGP XCO:0000090 D RGD:61081|PMID:9584103 20200310 RGD 737908 WF/NHsd strain DOID:3459 breast carcinoma MODEL: induced IAGP XCO:0000090 D RGD:62417|PMID:11139513 20191022 RGD as compared to control strain WKY/NHsd 737908 WF/NHsd strain DOID:9005233 Experimental Mammary Neoplasms MODEL:induced IAGP XCO:0000090 D RGD:5133689|PMID:21625632 20200318 RGD 737908 WF/NHsd strain DOID:9005233 Experimental Mammary Neoplasms MODEL:induced IAGP XCO:0000090|XCO:0000675 D RGD:5684388|PMID:21205740 20200318 RGD 737913 E3/Ztm strain DOID:9002763 Experimental Autoimmune Encephalomyelitis MODEL: control IAGP XCO:0000356 D RGD:61031|PMID:10640775 20200430 RGD 737921 BDIV/lfz strain DOID:5940 malignant peripheral nerve sheath tumor sexual_dimorphism IAGP D RGD:11556249|PMID:21427360 20211222 RGD 737922 LEW/SsNHsd strain DOID:13141 uveitis susceptibility IAGP D RGD:2293749|PMID:18281616 20080612 RGD 737922 LEW/SsNHsd strain DOID:9005647 Experimental Autoimmune Uveitis susceptibility IAGP XCO:0000288 D RGD:2296064|PMID:18453595 20200629 RGD 737926 F344/NCrl strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 737930 LEW/Ztm LEW/Ztm strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000263 D RGD:1299867|PMID:15081107 20200720 RGD 737930 LEW/Ztm LEW/Ztm strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292|XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 737932 LEW/Crl Lewis strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induces IAGP XCO:0000861,XCO:0000266,XCO:0000195 D RGD:38508908|PMID:23664330 20211111 RGD compared to mAb OX8 and 341 treated 737950 DA/Ztm strain DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:61031|PMID:10640775 20200323 RGD 737950 DA/Ztm strain DOID:9002763 Experimental Autoimmune Encephalomyelitis induced IAGP XCO:0000356 D RGD:1302437|PMID:15240732 20080702 RGD 737950 DA/Ztm strain DOID:9006647 Experimental Autoimmune Neuritis IAGP XCO:0000292|XCO:0000291 D RGD:2306736|PMID:15342198 20200603 RGD 737962 SPRD/Ztm strain DOID:9005233 Experimental Mammary Neoplasms MODEL: induced IAGP XCO:0000090 D RGD:1599317|PMID:16596452 20200316 RGD 737962 SPRD/Ztm strain DOID:9005233 Experimental Mammary Neoplasms MODEL:induced IAGP XCO:0000090 D RGD:1599390|PMID:17230524 20200316 RGD 737962 SPRD/Ztm strain DOID:9008939 Breast Neoplasms MODEL:induced IAGP XCO:0000090 D RGD:2302423|PMID:19052818 20200318 RGD 737972 BN/Crl strain DOID:9008067 Toxemia induces IAGP XCO:0000240 D RGD:40924657|PMID:20502689 20210601 RGD associated with anthrax disease 737973 Pia21 Pristane induced arthritis QTL 21 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 737974 Bp161 Blood pressure QTL 161 qtl DOID:10763 hypertension IAGP D RGD:61051|PMID:9774356 19990101 RGD 737975 Bw122 Body weight QTL 122 qtl DOID:9970 obesity IDA D RGD:737696|PMID:14756694 19990101 RGD 737976 Pia24 Pristane induced arthritis QTL 24 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:728382|PMID:14611807 19990101 RGD 737977 Bp160 Blood pressure QTL 160 qtl DOID:10763 hypertension IDA D RGD:61051|PMID:9774356 19990101 RGD 737978 Pia23 Pristane induced arthritis QTL 23 qtl DOID:9002457 Experimental Arthritis IDA D RGD:631850|PMID:12817024 19990101 RGD 737979 Pia22 Pristane induced arthritis QTL 22 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:631850|PMID:12817024 19990101 RGD 738005 Anxrr11 Anxiety related response QTL 11 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738005 Anxrr11 Anxiety related response QTL 11 qtl DOID:9002362 Hyperkinesis IDA D RGD:737695|PMID:14739700 19990101 RGD 738007 Anxrr7 Anxiety related response QTL 7 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738008 Hcar14 Hepatocarcinoma resistance QTL 14 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738009 Sach4 Saccharine consumption QTL 4 qtl DOID:1574 alcohol use disorder IAGP D RGD:731213|PMID:12972953 19990101 RGD 738010 Lnnr3 Liver neoplastic nodule remodeling QTL 3 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738011 Anxrr9 Anxiety related response QTL 9 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738012 Anxrr3 Anxiety related response QTL 3 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738013 Alc15 Alcohol consumption QTL 15 qtl DOID:1574 alcohol use disorder IDA D RGD:731213|PMID:12972953 19990101 RGD 738015 Pia9 Pristane induced arthritis QTL 9 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:629560|PMID:12571866 19990101 RGD 738016 Alc16 Alcohol consumption QTL 16 qtl DOID:1574 alcohol use disorder IDA D RGD:731213|PMID:12972953 19990101 RGD 738017 Hcas7 Hepatocarcinoma susceptibility QTL 7 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738018 Anxrr4 Anxiety related response QTL 4 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738019 Anxrr10 Anxiety related response QTL 10 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738019 Anxrr10 Anxiety related response QTL 10 qtl DOID:9002362 Hyperkinesis IDA D RGD:737695|PMID:14739700 19990101 RGD 738020 Pia8 Pristane induced arthritis QTL 8 qtl DOID:9002457 Experimental Arthritis IDA D RGD:629570|PMID:11090241 19990101 RGD 738021 Hcar13 Hepatocarcinoma resistance QTL 13 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738023 Alc17 Alcohol consumption QTL 17 qtl DOID:1574 alcohol use disorder IDA D RGD:731213|PMID:12972953 19990101 RGD 738024 Sach5 Saccharine consumption QTL 5 qtl DOID:1574 alcohol use disorder IAGP D RGD:731213|PMID:12972953 19990101 RGD 738026 Lnnr5 Liver neoplastic nodule remodeling QTL 5 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738027 Lnnr6 Liver neoplastic nodule remodeling QTL 6 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738030 Anxrr8 Anxiety related response QTL 8 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738031 Alc14 Alcohol consumption QTL 14 qtl DOID:1574 alcohol use disorder IDA D RGD:731213|PMID:12972953 19990101 RGD 738032 Hcas5 Hepatocarcinoma susceptibility QTL 5 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738033 Anxrr6 Anxiety related response QTL 6 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738034 Anxrr5 Anxiety related response QTL 5 qtl DOID:2030 anxiety disorder IAGP D RGD:737695|PMID:14739700 19990101 RGD 738036 Lnnr4 Liver neoplastic nodule remodeling QTL 4 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738037 Hcas6 Hepatocarcinoma susceptibility QTL 6 qtl DOID:9001586 Experimental Liver Neoplasms IDA D RGD:737884|PMID:15185337 19990101 RGD 738040 Mrgprd MAS related GPR family member D gene DOID:1059 intellectual disability ISO RGD:1344076 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 738040 Mrgprd MAS related GPR family member D gene DOID:12930 dilated cardiomyopathy ISS RGD:1553636 D RGD:13592920 20190214 MouseDO 738040 Mrgprd MAS related GPR family member D gene DOID:630 genetic disease ISO RGD:1344076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 738040 Mrgprd MAS related GPR family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 738040 Mrgprd MAS related GPR family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 738044 Mrgprg MAS related GPR family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 738044 Mrgprg MAS related GPR family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1351155 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 738044 Mrgprg MAS related GPR family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 738044 Mrgprg MAS related GPR family member G gene DOID:630 genetic disease ISO RGD:1351155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 738045 Mrgpre MAS related GPR family member E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344531 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 738045 Mrgpre MAS related GPR family member E gene DOID:0080773 delta beta-thalassemia ISO RGD:1344531 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 738045 Mrgpre MAS related GPR family member E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344531 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 738045 Mrgpre MAS related GPR family member E gene DOID:630 genetic disease ISO RGD:1344531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 738048 Mrgprx2 MAS related GPR family member X2 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 738048 Mrgprx2 MAS related GPR family member X2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603280 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 738048 Mrgprx2 MAS related GPR family member X2 gene DOID:1059 intellectual disability ISO RGD:1603280 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 738048 Mrgprx2 MAS related GPR family member X2 gene DOID:630 genetic disease ISO RGD:1603280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 738049 Mas1l MAS1 proto-oncogene like, G protein-coupled receptor gene DOID:11372 megacolon ISO RGD:1351772 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 738049 Mas1l MAS1 proto-oncogene like, G protein-coupled receptor gene DOID:630 genetic disease ISO RGD:1351772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 738120 LEW-Tg(HLA-B*2705m1,B2M)133-1TrgTg/Tg strain DOID:0060180 colitis IAGP D RGD:731214|PMID:10450519 19990101 RGD 738120 LEW-Tg(HLA-B*2705m1,B2M)133-1TrgTg/Tg strain DOID:2518 orchitis IAGP D RGD:731214|PMID:10450519 19990101 RGD 738120 LEW-Tg(HLA-B*2705m1,B2M)133-1TrgTg/Tg strain DOID:848 arthritis IAGP D RGD:731214|PMID:10450519 19990101 RGD 7387227 Uae40 Urinary albumin excretion QTL 40 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387235 Uae41 Urinary albumin excretion QTL 41 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387267 Uae42 Urinary albumin excretion QTL 42 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387280 Uae43 Urinary albumin excretion QTL 43 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387283 Uae44 Urinary albumin excretion QTL 44 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387289 Uae45 Urinary albumin excretion QTL 45 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387292 Kidm42 Kidney mass QTL 42 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387306 Bw124 Body weight QTL 124 qtl DOID:9970 obesity IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387312 Bw125 Body weight QTL 125 qtl DOID:9970 obesity IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387318 Stl32 Serum triglyceride level QTL 32 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131029 RGD 7387335 Ak6 adenylate kinase 6 gene DOID:630 genetic disease ISO RGD:7382322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7394701 Uae46 Urinary albumin excretion QTL 46 qtl DOID:9001542 Albuminuria IAGP D RGD:7365117|PMID:20159938 20131030 RGD 7394708 Emca11 Estrogen-induced mammary cancer QTL 11 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7364727|PMID:23151807 20131104 RGD 7394710 Emca12 Estrogen-induced mammary cancer QTL 12 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7364727|PMID:23151807 20131104 RGD 7394712 Emca13 Estrogen-induced mammary cancer QTL 13 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7364727|PMID:23151807 20131104 RGD 7394837 Memor18 Memory QTL 18 qtl DOID:8927 learning disability IAGP D RGD:7394833|PMID:23469157 20131107 RGD 7394837 Memor18 Memory QTL 18 qtl DOID:9008023 Memory Disorders IAGP D RGD:7394833|PMID:23469157 20131107 RGD 7401201 SS.SR-(D17Rat24-rs106534785)/Opaz strain DOID:8927 learning disability IAGP D RGD:7394833|PMID:23469157 20131107 RGD 7401201 SS.SR-(D17Rat24-rs106534785)/Opaz strain DOID:9008023 Memory Disorders IAGP D RGD:7394833|PMID:23469157 20131107 RGD 7401203 SS.SR-(rs105019230-D17Rat44)/Opaz strain DOID:8927 learning disability IAGP D RGD:7394833|PMID:23469157 20131107 RGD 7401203 SS.SR-(rs105019230-D17Rat44)/Opaz strain DOID:9008023 Memory Disorders IAGP D RGD:7394833|PMID:23469157 20131107 RGD 7411542 Bw127 Body weight QTL 127 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411545 Bw128 Body weight QTL 128 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411547 Bw129 Body weight QTL 129 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411549 Bw130 Body weight QTL 130 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411551 Bw131 Body weight QTL 131 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411555 Bw132 Body weight QTL 132 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411558 Bw133 Body weight QTL 133 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411561 Bw134 Body weight QTL 134 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411564 Bw135 Body weight QTL 135 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411566 Bw136 Body weight QTL 136 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411569 Bw137 Body weight QTL 137 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411571 Bw138 Body weight QTL 138 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411573 Bw139 Body weight QTL 139 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411575 Bw140 Body weight QTL 140 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411577 Bw141 Body weight QTL 141 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411579 Bw142 Body weight QTL 142 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411582 Foco3 Food consumption QTL 3 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20160108 RGD 7411584 Foco4 Food consumption QTL 4 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411586 Foco5 Food consumption QTL 5 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411588 Foco6 Food consumption QTL 6 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411590 Foco7 Food consumption QTL 7 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411592 Foco8 Food consumption QTL 8 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411595 Foco9 Food consumption QTL 9 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411597 Foco10 Food consumption QTL 10 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411599 Foco11 Food consumption QTL 11 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411601 Foco12 Food consumption QTL 12 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411603 Foco13 Food consumption QTL 13 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411605 Foco14 Food consumption QTL 14 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411607 Foco15 Food consumption QTL 15 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411609 Foco16 Food consumption QTL 16 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411611 Foco17 Food consumption QTL 17 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411614 Foco18 Food consumption QTL 18 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411641 Foco19 Food consumption QTL 19 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411643 Foco20 Food consumption QTL 20 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411646 Foco21 Food consumption QTL 21 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411648 Foco22 Food consumption QTL 22 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411650 Foco23 Food consumption QTL 23 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411652 Foco24 Food consumption QTL 24 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411654 Foco25 Food consumption QTL 25 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411656 Foco26 Food consumption QTL 26 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411658 Foco27 Food consumption QTL 27 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411660 Foco28 Food consumption QTL 28 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411662 Foco29 Food consumption QTL 29 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411664 Foco30 Food consumption QTL 30 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411666 Foco31 Food consumption QTL 31 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411668 Foco32 Food consumption QTL 32 qtl DOID:9007633 Body Weight IAGP D RGD:7401255|PMID:23596094 20131118 RGD 7411707 SHRSP.SHR-(D1Mgh5-D1Got87)/Izm strain DOID:9006024 Hypotension IAGP D RGD:7411685|PMID:23690346 20131119 RGD Compared to SHRSP/Izm 7411709 SHRSP.SHR-(D1Mit30-D1Rat269)/Izm strain DOID:9006024 Hypotension IAGP D RGD:7411685|PMID:23690346 20131119 RGD compared to SHRSP/Izm 7411712 Strs4 Sensitivity to stroke QTL 4 qtl DOID:9007096 Stroke IAGP D RGD:7411685|PMID:23690346 20131119 RGD 7411719 Strs5 Sensitivity to stroke QTL 5 qtl DOID:9007096 Stroke IAGP D RGD:7411685|PMID:23690346 20131119 RGD 7411722 Strs6 Sensitivity to stroke QTL 6 qtl DOID:9007096 Stroke IAGP D RGD:7411685|PMID:23690346 20131119 RGD 7411725 Strs7 Sensitivity to stroke QTL 7 qtl DOID:10763 hypertension IAGP D RGD:7411685|PMID:23690346 20131119 RGD 7411725 Strs7 Sensitivity to stroke QTL 7 qtl DOID:9007096 Stroke IAGP D RGD:7411685|PMID:23690346 20131119 RGD 7421610 SS.LEW-(D5Mit5-D5M4Mit14)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20131211 RGD 7421617 SS.LEW-(D17Chm14-D17Rat65)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20131211 RGD 7421619 SS.LEW-(D17Chm85-D17Chm71)/Ayd strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:7421500|PMID:23814039 20131211 RGD 7421626 Bp360 Blood pressure QTL 360 qtl DOID:9006024 Hypotension IAGP D RGD:7421500|PMID:23814039 20131211 RGD Induced 7421628 Bp361 Blood pressure QTL 361 qtl DOID:9006024 Hypotension IAGP D RGD:7421500|PMID:23814039 20131211 RGD Induced 7421630 Bp362 Blood pressure QTL 362 qtl DOID:9006024 Hypotension IAGP D RGD:7421500|PMID:23814039 20131211 RGD Induced 7421636 SS.MNS-(D2Chm90-D2Rat38)/Ayd strain DOID:9003631 Diastolic Dysfunction induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20201215 RGD compared to C2S.M21 7421638 SS.MNS-(D2Chm381-D2Chm225)/Ayd strain DOID:9006024 Hypotension MODEL: induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20131206 RGD compared to parental SS/Jr 7421643 SS.MNS-(D2Chm254-D2Chm161)/Ayd strain DOID:9006024 Hypotension MODEL: induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20131206 RGD compared to parental SS/Jr 7421645 SS.MNS-(D2Rat155-D2Chm419)/Ayd strain DOID:9006024 Hypotension MODEL: induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20131206 RGD compared to parental SS/Jr 7421649 SS.MNS-(D2Chm153-D2Chm410)/Ayd strain DOID:9006024 Hypotension MODEL: induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20131206 RGD compared to parental SS/Jr 7488904 Bp363 Blood pressure QTL 363 qtl DOID:9006024 Hypotension IAGP D RGD:7421631|PMID:19461651 20131206 RGD as compared to parental SS/Jr 7488925 Bp364 Blood pressure QTL 364 qtl DOID:9006024 Hypotension IAGP D RGD:7421631|PMID:19461651 20131206 RGD as compared to parental SS/Jr 7488927 Bp365 Blood pressure QTL 365 qtl DOID:9006024 Hypotension IAGP D RGD:7421631|PMID:19461651 20131206 RGD as compared to parental SS/Jr 7488929 Bp366 Blood pressure QTL 366 qtl DOID:9006024 Hypotension IAGP D RGD:7421631|PMID:19461651 20131206 RGD as compared to parental SS/Jr 7488931 Bp367 Blood pressure QTL 367 qtl DOID:9006024 Hypotension IAGP D RGD:7421631|PMID:19461651 20131206 RGD as compared to parental SS/Jr 7488933 Bp368 Blood pressure QTL 368 qtl DOID:9006024 Hypotension IAGP D RGD:7421631|PMID:19461651 20131206 RGD as compared to parental SS/Jr 7488963 Bp369 Blood pressure QTL 369 qtl DOID:9006024 Hypotension IAGP D RGD:7421500|PMID:23814039 20131211 RGD Induced 7488966 Bp370 Blood pressure QTL 370 qtl DOID:9006024 Hypotension IAGP D RGD:7421500|PMID:23814039 20131211 RGD Induced 7488977 Mir15b microRNA 15b gene DOID:10591 pre-eclampsia ISO RGD:1343014 D RGD:9068941 20230128 RGD miRNA:decreased expression:blood serum (human) PMID:25017274|REF_RGD_ID:155882496 7488977 Mir15b microRNA 15b gene DOID:2491 sensory peripheral neuropathy IEP D RGD:13782150|PMID:28012171 20180823 RGD RNA:increased expression:dorsal root ganglion: 7488977 Mir15b microRNA 15b gene DOID:6000 congestive heart failure ISO RGD:1343014 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 7488977 Mir15b microRNA 15b gene DOID:9002211 Hyperalgesia IDA D RGD:13782150|PMID:28012171 20180823 RGD 7488977 Mir15b microRNA 15b gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343014 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 7488977 Mir15b microRNA 15b gene DOID:9256 colorectal cancer ISO RGD:1343014 D RGD:9068941 20220805 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 7489022 Mir1306 microRNA 1306 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:2312937 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 7489022 Mir1306 microRNA 1306 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:2312937 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:31690835 7489022 Mir1306 microRNA 1306 gene DOID:11198 DiGeorge syndrome ISO RGD:2312937 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 7489022 Mir1306 microRNA 1306 gene DOID:12583 velocardiofacial syndrome ISO RGD:2312937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 7489022 Mir1306 microRNA 1306 gene DOID:12849 autistic disorder ISO RGD:2312937 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7489022 Mir1306 microRNA 1306 gene DOID:5419 schizophrenia ISO RGD:2312937 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7489022 Mir1306 microRNA 1306 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2312937 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 7489022 Mir1306 microRNA 1306 gene DOID:9007661 Dwarfism ISO RGD:2312937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 7489022 Mir1306 microRNA 1306 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2312937 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 7489024 Mir3473 microRNA 3473 gene DOID:3021 acute kidney failure EXP D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 7489026 Mir509 microRNA 509 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:4109060 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 7489026 Mir509 microRNA 509 gene DOID:12849 autistic disorder ISO RGD:4109060 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7489028 Mir103a2 microRNA 103a-2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1345954 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 7489028 Mir103a2 microRNA 103a-2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 7489028 Mir103a2 microRNA 103a-2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 7489028 Mir103a2 microRNA 103a-2 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1345954 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 7489029 Mir208a microRNA 208a gene DOID:0050700 cardiomyopathy ISO RGD:1607682 D RGD:158014899|PMID:26029872 20230321 RGD 7489029 Mir208a microRNA 208a gene DOID:0060439 lysinuric protein intolerance ISO RGD:1346072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 7489029 Mir208a microRNA 208a gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:1346072 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 7489029 Mir208a microRNA 208a gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346072 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 7489029 Mir208a microRNA 208a gene DOID:3393 coronary artery disease ISO RGD:1346072 D RGD:11056497|PMID:25728840 20230130 RGD miRNA:decreased expression:blood plasma (human) 7489029 Mir208a microRNA 208a gene DOID:5844 myocardial infarction IEP D RGD:242905213|PMID:26861724 20230328 RGD miRNA:increased expression:heart 7489029 Mir208a microRNA 208a gene DOID:5844 myocardial infarction treatment ISO RGD:1607682 D RGD:11536862|PMID:26688617 20230321 RGD 7489029 Mir208a microRNA 208a gene DOID:9000265 Specific Granule Deficiency ISO RGD:1346072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 7489029 Mir208a microRNA 208a gene DOID:9000740 ST Elevation Myocardial Infarction severity IEP D RGD:213230165|PMID:32458401 20230323 RGD miRNA:increased expression:blood 7489029 Mir208a microRNA 208a gene DOID:9002371 Cardiotoxicity ISO RGD:1346072 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26454886 7489029 Mir208a microRNA 208a gene DOID:9003936 Cardiomegaly treatment IMP D RGD:213230164|PMID:33605072 20230323 RGD 7489029 Mir208a microRNA 208a gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346072 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 7489029 Mir208a microRNA 208a gene DOID:9005968 Neuralgia ISO RGD:1346072 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 7489034 Mir128-2 microRNA 128-2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347002 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 7489034 Mir128-2 microRNA 128-2 gene DOID:9256 colorectal cancer ISO RGD:1347002 D RGD:9068941 20220811 RGD miRNA:increased expression:colorectum (human) PMID:23322774|REF_RGD_ID:153002793 7489038 Mir155 microRNA 155 gene DOID:0050424 familial adenomatous polyposis ISO RGD:2299183 D RGD:21409749|PMID:30072583 20200324 RGD miRNA:decreased expression:colon 7489038 Mir155 microRNA 155 gene DOID:0050827 rheumatic heart disease IMP D RGD:151347417|PMID:31894293 20220120 RGD 7489038 Mir155 microRNA 155 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:2299183 D RGD:21079468|PMID:29909906 20200218 RGD 7489038 Mir155 microRNA 155 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:2299183 D RGD:24922225|PMID:28413645 20200331 RGD 7489038 Mir155 microRNA 155 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:2299183 D RGD:21079420|PMID:30194167 20200214 RGD 7489038 Mir155 microRNA 155 gene DOID:0060058 lymphoma ISS RGD:1608318 D RGD:13592920 20181004 MouseDO 7489038 Mir155 microRNA 155 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:2299183 D RGD:21081530|PMID:30653586 20200224 RGD miRNA:decreased expression:serum 7489038 Mir155 microRNA 155 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:1608318 D RGD:21079446|PMID:27856635 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:0080208 non-alcoholic fatty liver disease ISO RGD:2299183 D RGD:25671479|PMID:27832630 20200428 RGD miRNA:decreased expression:blood, liver 7489038 Mir155 microRNA 155 gene DOID:0081292 traumatic brain injury ISO RGD:1608318 D RGD:25314324|PMID:28804446 20200424 RGD 7489038 Mir155 microRNA 155 gene DOID:10283 prostate cancer severity ISO RGD:2299183 D RGD:21408594|PMID:29630104 20200323 RGD miRNA:increased expression:prostate gland 7489038 Mir155 microRNA 155 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:2299183 D RGD:21081544|PMID:29658610 20200225 RGD miRNA:increased expression:peripheral blood mononuclear cell 7489038 Mir155 microRNA 155 gene DOID:10534 stomach cancer ISO RGD:2299183 D RGD:21403680|PMID:30008945 20200309 RGD miRNA:decreased expression:stomach 7489038 Mir155 microRNA 155 gene DOID:10534 stomach cancer ISO RGD:2299183 D RGD:21408595|PMID:29250766 20200323 RGD 7489038 Mir155 microRNA 155 gene DOID:10534 stomach cancer disease_progression ISO RGD:2299183 D RGD:21081514|PMID:31103022 20200221 RGD miRNA:decreased expression:stomach 7489038 Mir155 microRNA 155 gene DOID:10591 pre-eclampsia ISO RGD:2299183 D RGD:155882490|PMID:28700503 20230125 RGD miRNA:increased expression:blood serum (human) 7489038 Mir155 microRNA 155 gene DOID:10652 Alzheimer's disease ISO RGD:2299183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 7489038 Mir155 microRNA 155 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2299183 D RGD:24922218|PMID:28125526 20200330 RGD associated with sepsis;miRNA:increased expression:lung 7489038 Mir155 microRNA 155 gene DOID:12351 alcoholic hepatitis IEP D RGD:151347420|PMID:32317960 20220120 RGD RNA:increased expression:liver 7489038 Mir155 microRNA 155 gene DOID:13129 severe pre-eclampsia severity ISO RGD:2299183 D RGD:155582220|PMID:31487655 20221013 RGD miRNA:increased expression:blood serum (human) 7489038 Mir155 microRNA 155 gene DOID:13241 Behcet's disease ISO RGD:2299183 D RGD:21409751|PMID:30366049 20200324 RGD miRNA:increased expression:peripheral blood mononuclear cell 7489038 Mir155 microRNA 155 gene DOID:13241 Behcet's disease ISO RGD:2299183 D RGD:25671481|PMID:27156371 20200428 RGD 7489038 Mir155 microRNA 155 gene DOID:13608 biliary atresia ISO RGD:1608318|RGD:2299183 D RGD:25671379|PMID:27817193 20200424 RGD miRNA:increased expression:liver 7489038 Mir155 microRNA 155 gene DOID:13608 biliary atresia ISO RGD:2299183 D RGD:24922206|PMID:28355202 20200326 RGD miRNA:increased expression:liver 7489038 Mir155 microRNA 155 gene DOID:14115 toxic shock syndrome ISO RGD:2299183 D RGD:21081538|PMID:29979224 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:14250 Down syndrome ISO RGD:2299183 D RGD:11554173 20191008 CTD CTD Direct Evidence: marker/mechanism PMID:29403643 7489038 Mir155 microRNA 155 gene DOID:14330 Parkinson's disease IEP D RGD:41404531|PMID:32326590 20210127 RGD RNA:increased expression: plasma extracellular vesicle 7489038 Mir155 microRNA 155 gene DOID:1485 cystic fibrosis ISO RGD:2299183 D RGD:25671378|PMID:27689251 20200424 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:1498 cholera ISO RGD:2299183 D RGD:25314323|PMID:28319200 20200424 RGD miRNA:increased expression:duodenum 7489038 Mir155 microRNA 155 gene DOID:1936 atherosclerosis ISO RGD:1608318 D RGD:21079445|PMID:28970282 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:1936 atherosclerosis ISO RGD:1608318 D RGD:21079446|PMID:27856635 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:1936 atherosclerosis severity ISO RGD:2299183 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma 7489038 Mir155 microRNA 155 gene DOID:1936 atherosclerosis treatment ISO RGD:1608318 D RGD:24922209|PMID:28646427 20200326 RGD associated with Bacteremia 7489038 Mir155 microRNA 155 gene DOID:2043 hepatitis B ISO RGD:2299183 D RGD:21408592|PMID:29349567 20200323 RGD 7489038 Mir155 microRNA 155 gene DOID:2048 autoimmune hepatitis ISO RGD:2299183 D RGD:21409750|PMID:29420849 20200324 RGD 7489038 Mir155 microRNA 155 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1608318 D RGD:21081535|PMID:30290123 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:219 colon cancer ISO RGD:2299183 D RGD:11520828|PMID:26744471 20200428 RGD 7489038 Mir155 microRNA 155 gene DOID:219 colon cancer ISO RGD:2299183 D RGD:21081546|PMID:29552117 20200225 RGD miRNA:increased expression:colon 7489038 Mir155 microRNA 155 gene DOID:219 colon cancer treatment ISO RGD:1608318 D RGD:21081546|PMID:29552117 20200225 RGD 7489038 Mir155 microRNA 155 gene DOID:224 transient cerebral ischemia treatment IEP D RGD:151347423|PMID:33081480 20220120 RGD 7489038 Mir155 microRNA 155 gene DOID:234 colon adenocarcinoma treatment ISO RGD:2299183 D RGD:21409754|PMID:29535520 20200324 RGD 7489038 Mir155 microRNA 155 gene DOID:2913 acute pancreatitis severity ISO RGD:2299183 D RGD:21403683|PMID:29937734 20200309 RGD 7489038 Mir155 microRNA 155 gene DOID:2913 acute pancreatitis severity ISO RGD:2299183 D RGD:21408596|PMID:30497068 20200323 RGD 7489038 Mir155 microRNA 155 gene DOID:3042 allergic contact dermatitis treatment IEP D RGD:21079472|PMID:29404871 20200218 RGD 7489038 Mir155 microRNA 155 gene DOID:3382 liposarcoma disease_progression ISO RGD:2299183 D RGD:25314299|PMID:28036291 20200403 RGD 7489038 Mir155 microRNA 155 gene DOID:3393 coronary artery disease ISO RGD:2299183 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma 7489038 Mir155 microRNA 155 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:2299183 D RGD:25314300|PMID:28198398 20200403 RGD 7489038 Mir155 microRNA 155 gene DOID:4029 gastritis ISO RGD:2299183 D RGD:21408595|PMID:29250766 20200323 RGD 7489038 Mir155 microRNA 155 gene DOID:4195 hyperglycemia ISO RGD:1608318 D RGD:25671464|PMID:27711113 20200427 RGD 7489038 Mir155 microRNA 155 gene DOID:4866 salivary gland adenoid cystic carcinoma disease_progression ISO RGD:2299183 D RGD:24922215|PMID:28668836 20200330 RGD 7489038 Mir155 microRNA 155 gene DOID:4905 pancreatic carcinoma ISO RGD:2299183 D RGD:24922217|PMID:28660759 20200330 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:4947 cholangiocarcinoma ISO RGD:2299183 D RGD:21081530|PMID:30653586 20200224 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:2299183 D RGD:21079444|PMID:26885061 20200217 RGD miRNA:increased expression:gall bladder 7489038 Mir155 microRNA 155 gene DOID:4989 pancreatitis ISO RGD:2299183 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 7489038 Mir155 microRNA 155 gene DOID:5041 esophageal cancer ISO RGD:2299183 D RGD:21409755|PMID:29660336 20200324 RGD 7489038 Mir155 microRNA 155 gene DOID:5082 liver cirrhosis ISO RGD:2299183 D RGD:21409750|PMID:29420849 20200324 RGD 7489038 Mir155 microRNA 155 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:2299183 D RGD:21081517|PMID:30617160 20200221 RGD 7489038 Mir155 microRNA 155 gene DOID:5844 myocardial infarction treatment ISO RGD:1608318 D RGD:21066347|PMID:31207208 20200210 RGD 7489038 Mir155 microRNA 155 gene DOID:640 encephalomyelitis severity ISO RGD:1608318 D RGD:21079465|PMID:27604627 20200218 RGD associated with viral infectious disease 7489038 Mir155 microRNA 155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:21079433|PMID:27035278 20200214 RGD 7489038 Mir155 microRNA 155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:21079477|PMID:28074870 20200218 RGD 7489038 Mir155 microRNA 155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:21081523|PMID:30710754 20200224 RGD miRNA:decreased expression:peripheral blood mononuclear cell 7489038 Mir155 microRNA 155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:24922222|PMID:29528577 20200331 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:684 hepatocellular carcinoma ISO RGD:2299183 D RGD:25671465|PMID:27531892 20200427 RGD associated with hepatitis C;DNA:SNP: :rs767649 (human) 7489038 Mir155 microRNA 155 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:2299183 D RGD:21079433|PMID:27035278 20200214 RGD 7489038 Mir155 microRNA 155 gene DOID:8283 peritonitis ISO RGD:1608318 D RGD:21079419|PMID:25231976 20200214 RGD associated with Hypothermia 7489038 Mir155 microRNA 155 gene DOID:8283 peritonitis ISO RGD:1608318 D RGD:21079469|PMID:24708712 20200218 RGD 7489038 Mir155 microRNA 155 gene DOID:8557 oropharynx cancer treatment ISO RGD:2299183 D RGD:24922223|PMID:28347920 20200331 RGD 7489038 Mir155 microRNA 155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:21079443|PMID:30927737 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:21403682|PMID:29438285 20200309 RGD miRNA:increased expression:colon 7489038 Mir155 microRNA 155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:24922207|PMID:29325325 20200326 RGD 7489038 Mir155 microRNA 155 gene DOID:8577 ulcerative colitis ISO RGD:2299183 D RGD:24922213|PMID:29668922 20200330 RGD miRNA:decreased expression:feces 7489038 Mir155 microRNA 155 gene DOID:8649 tongue cancer ISO RGD:2299183 D RGD:21081517|PMID:30617160 20200221 RGD miRNA:decreased expression:tongue 7489038 Mir155 microRNA 155 gene DOID:8778 Crohn's disease ISO RGD:2299183 D RGD:21079443|PMID:30927737 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:8778 Crohn's disease ISO RGD:2299183 D RGD:24922207|PMID:29325325 20200326 RGD 7489038 Mir155 microRNA 155 gene DOID:8778 Crohn's disease ISO RGD:2299183 D RGD:24922213|PMID:29668922 20200330 RGD miRNA:decreased expression:feces 7489038 Mir155 microRNA 155 gene DOID:8929 atrophic gastritis treatment IEP D RGD:25671480|PMID:27293468 20200428 RGD 7489038 Mir155 microRNA 155 gene DOID:9000027 Microsatellite Instability ISO RGD:2299183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 7489038 Mir155 microRNA 155 gene DOID:9000081 Lymphatic Metastasis ISO RGD:2299183 D RGD:21079444|PMID:26885061 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9000081 Lymphatic Metastasis ISO RGD:2299183 D RGD:21079446|PMID:27856635 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:2299183 D RGD:21409756|PMID:29893326 20200324 RGD associated with colon cancer 7489038 Mir155 microRNA 155 gene DOID:9000099 Experimental Colitis ISO RGD:1608318 D RGD:21079443|PMID:30927737 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9000099 Experimental Colitis ISO RGD:1608318 D RGD:21079473|PMID:21880981 20200218 RGD associated with Helicobacter Infections 7489038 Mir155 microRNA 155 gene DOID:9000099 Experimental Colitis treatment IMP D RGD:21081536|PMID:30253332 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1608318 D RGD:21079463|PMID:28246471 20200218 RGD 7489038 Mir155 microRNA 155 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1608318 D RGD:24922208|PMID:28752563 20200326 RGD 7489038 Mir155 microRNA 155 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1608318 D RGD:25314295|PMID:28461115 20200403 RGD 7489038 Mir155 microRNA 155 gene DOID:9000483 Angina Pectoris ISO RGD:2299183 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma 7489038 Mir155 microRNA 155 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:2299183 D RGD:24922221|PMID:27227700 20200331 RGD miRNA:decreased expression:nucleus pulposus 7489038 Mir155 microRNA 155 gene DOID:9000585 Intervertebral Disc Disease treatment ISO RGD:1608318 D RGD:24922221|PMID:27227700 20200331 RGD 7489038 Mir155 microRNA 155 gene DOID:9000784 Fibrosis ISO RGD:1608318 D RGD:21079432|PMID:28947593 20200214 RGD 7489038 Mir155 microRNA 155 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2299183 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:19487542|PMID:27692344 7489038 Mir155 microRNA 155 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2299183 D RGD:21079446|PMID:27856635 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:2299183 D RGD:21403685|PMID:29517812 20200309 RGD 7489038 Mir155 microRNA 155 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1608318 D RGD:25314298|PMID:28492308 20200403 RGD 7489038 Mir155 microRNA 155 gene DOID:9001542 Albuminuria ISO RGD:2299183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24223694 7489038 Mir155 microRNA 155 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1608318 D RGD:21079442|PMID:28640790 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9003036 Oral Lichen Planus ISO RGD:2299183 D RGD:21081545|PMID:29813046 20200225 RGD 7489038 Mir155 microRNA 155 gene DOID:9003036 Oral Lichen Planus ISO RGD:2299183 D RGD:24922205|PMID:29276184 20200326 RGD miRNA:increased expression:blood 7489038 Mir155 microRNA 155 gene DOID:9004017 Chronic Hepatitis C ISO RGD:2299183 D RGD:21079478|PMID:30852102 20200218 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9004017 Chronic Hepatitis C ISO RGD:2299183 D RGD:21403686|PMID:29575671 20200309 RGD associated with rheumatoid arthritis 7489038 Mir155 microRNA 155 gene DOID:9004271 Colonic Polyps ISO RGD:1608318 D RGD:11520828|PMID:26744471 20200428 RGD associated with Experimental Colitis 7489038 Mir155 microRNA 155 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2299183 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7489038 Mir155 microRNA 155 gene DOID:9004484 Sepsis ISO RGD:1608318 D RGD:21081538|PMID:29979224 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:9004484 Sepsis ISO RGD:2299183 D RGD:21079467|PMID:27434558 20200218 RGD 7489038 Mir155 microRNA 155 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:2299183 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:28315615 7489038 Mir155 microRNA 155 gene DOID:9004610 Acute Lung Injury IMP D RGD:11566124|PMID:27371731 20200427 RGD 7489038 Mir155 microRNA 155 gene DOID:9004610 Acute Lung Injury ISO RGD:1608318 D RGD:11566124|PMID:27371731 20200427 RGD 7489038 Mir155 microRNA 155 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1608318 D RGD:21066348|PMID:30220274 20200210 RGD 7489038 Mir155 microRNA 155 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1608318 D RGD:21408593|PMID:31949845 20200323 RGD associated with Sepsis 7489038 Mir155 microRNA 155 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1608318 D RGD:24922218|PMID:28125526 20200330 RGD associated with sepsis;miRNA:increased expression:lung 7489038 Mir155 microRNA 155 gene DOID:9005172 Lung Neoplasms ISO RGD:2299183 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:25105010|PMID:27692344 7489038 Mir155 microRNA 155 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2299183 D RGD:21079418|PMID:20354188 20200214 RGD 7489038 Mir155 microRNA 155 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2299183 D RGD:21403681|PMID:29643534 20200309 RGD 7489038 Mir155 microRNA 155 gene DOID:9005930 Endotoxemia ISO RGD:1608318 D RGD:21079445|PMID:28970282 20200217 RGD associated with familial hyperlipidemia 7489038 Mir155 microRNA 155 gene DOID:9005930 Endotoxemia ISO RGD:1608318 D RGD:21081538|PMID:29979224 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:9005930 Endotoxemia treatment ISO RGD:1608318 D RGD:21081539|PMID:29079998 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:9005930 Endotoxemia treatment ISO RGD:1608318 D RGD:24922204|PMID:28264607 20200326 RGD 7489038 Mir155 microRNA 155 gene DOID:9006162 Endotoxin Hyporesponsiveness ISO RGD:1608318 D RGD:24922211|PMID:28978688 20200327 RGD associated with Inflammation 7489038 Mir155 microRNA 155 gene DOID:9006618 Liver Metastasis ISO RGD:2299183 D RGD:21079444|PMID:26885061 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1608318 D RGD:25671474|PMID:26867493 20200428 RGD 7489038 Mir155 microRNA 155 gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:2299183 D RGD:25671466|PMID:27468194 20200427 RGD miRNA:increased expression:duodenal mucosa 7489038 Mir155 microRNA 155 gene DOID:9007367 Septic Peritonitis ISO RGD:2299183 D RGD:21079477|PMID:28074870 20200218 RGD associatd with liver cirrhosis 7489038 Mir155 microRNA 155 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608318 D RGD:21409750|PMID:29420849 20200324 RGD 7489038 Mir155 microRNA 155 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1608318 D RGD:25671474|PMID:26867493 20200428 RGD 7489038 Mir155 microRNA 155 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1608318 D RGD:25671463|PMID:27673475 20200427 RGD 7489038 Mir155 microRNA 155 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1608318 D RGD:21408596|PMID:30497068 20200323 RGD 7489038 Mir155 microRNA 155 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1608318 D RGD:21403683|PMID:29937734 20200309 RGD 7489038 Mir155 microRNA 155 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:2299183 D RGD:11554173 20180116 CTD CTD Direct Evidence: marker/mechanism PMID:28688901 7489038 Mir155 microRNA 155 gene DOID:9007692 Insulin Resistance ISO RGD:1608318 D RGD:25671464|PMID:27711113 20200427 RGD 7489038 Mir155 microRNA 155 gene DOID:9007692 Insulin Resistance ISO RGD:2299183 D RGD:24922220|PMID:29479888 20200331 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1608318 D RGD:21409753|PMID:30206757 20200324 RGD miRNA:increased expression:Peyer's patch 7489038 Mir155 microRNA 155 gene DOID:9007787 Carcinoid Tumor ISO RGD:2299183 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25105010 7489038 Mir155 microRNA 155 gene DOID:9007964 Arsenic Poisoning ISO RGD:2299183 D RGD:25314296|PMID:27913196 20200403 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9008114 Helicobacter Infections ISO RGD:1608318 D RGD:25671377|PMID:28560185 20200424 RGD miRNA:increased expression:stomach 7489038 Mir155 microRNA 155 gene DOID:9008114 Helicobacter Infections ISO RGD:2299183 D RGD:21408595|PMID:29250766 20200323 RGD 7489038 Mir155 microRNA 155 gene DOID:9008163 Chronic Hepatitis B ISO RGD:2299183 D RGD:21081537|PMID:30735455 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:9008551 Flaviviridae Infections ISO RGD:2299183 D RGD:25671376|PMID:27765085 20200424 RGD 7489038 Mir155 microRNA 155 gene DOID:9008691 Liver Injury treatment ISO RGD:1608318 D RGD:21079440|PMID:30218645 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9119 acute myeloid leukemia ISO RGD:2299183 D RGD:24922214|PMID:28989535 20200330 RGD miRNA:increased expression:blood 7489038 Mir155 microRNA 155 gene DOID:9119 acute myeloid leukemia ISO RGD:2299183 D RGD:25671477|PMID:26923190 20200428 RGD miRNA:decreased expression:peripheral blood mononuclear cell 7489038 Mir155 microRNA 155 gene DOID:9146 visceral leishmaniasis ISO RGD:1608318 D RGD:21081525|PMID:31182615 20200224 RGD 7489038 Mir155 microRNA 155 gene DOID:9256 colorectal cancer ISO RGD:2299183 D RGD:24922227|PMID:28418858 20200331 RGD 7489038 Mir155 microRNA 155 gene DOID:9256 colorectal cancer disease_progression ISO RGD:2299183 D RGD:21079446|PMID:27856635 20200217 RGD miRNA:increased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9256 colorectal cancer disease_progression ISO RGD:2299183 D RGD:21403684|PMID:29361687 20200309 RGD 7489038 Mir155 microRNA 155 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2299183 D RGD:21079478|PMID:30852102 20200218 RGD miRNA:decreased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2299183 D RGD:25671464|PMID:27711113 20200427 RGD miRNA:decreased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9408 acute myocardial infarction ISO RGD:2299183 D RGD:21081515|PMID:31866771 20200221 RGD miRNA:decreased expression:peripheral blood mononuclear cell, plasma 7489038 Mir155 microRNA 155 gene DOID:9538 multiple myeloma ISO RGD:2299183 D RGD:24922226|PMID:28446295 20200331 RGD miRNA:decreased expression:serum 7489038 Mir155 microRNA 155 gene DOID:9538 multiple myeloma disease_progression ISO RGD:2299183 D RGD:21079441|PMID:25497370 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:2299183 D RGD:24922224|PMID:28101643 20200331 RGD DNA:SNP: :rs767649 (human) 7489038 Mir155 microRNA 155 gene DOID:9970 obesity ISO RGD:1608318 D RGD:21079445|PMID:28970282 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9970 obesity ISO RGD:1608318 D RGD:21079446|PMID:27856635 20200217 RGD 7489038 Mir155 microRNA 155 gene DOID:9970 obesity ISO RGD:2299183 D RGD:24922220|PMID:29479888 20200331 RGD miRNA:decreased expression:serum 7489043 Scarna3 small Cajal body-specific RNA 3 gene DOID:3755 antithrombin III deficiency ISO RGD:1602938 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 7489047 Scarna15 small Cajal body-specific RNA 15 gene DOID:13938 amenorrhea ISO RGD:1602761 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 7489047 Scarna15 small Cajal body-specific RNA 15 gene DOID:2717 Bloom syndrome ISO RGD:1602761 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 7489047 Scarna15 small Cajal body-specific RNA 15 gene DOID:9256 colorectal cancer ISO RGD:1602761 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 7496421 Gcnt7 glucosaminyl (N-acetyl) transferase family member 7 gene DOID:630 genetic disease ISO RGD:1354424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7496877 Pasd1 PAS domain containing repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 7496877 Pasd1 PAS domain containing repressor 1 gene DOID:12849 autistic disorder ISO RGD:1346433 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7496877 Pasd1 PAS domain containing repressor 1 gene DOID:630 genetic disease ISO RGD:1346433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7498198 Zfp174 zinc finger protein 174 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 7498198 Zfp174 zinc finger protein 174 gene DOID:1826 epilepsy ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 7498198 Zfp174 zinc finger protein 174 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322583 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 7498198 Zfp174 zinc finger protein 174 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 7498198 Zfp174 zinc finger protein 174 gene DOID:2843 long QT syndrome ISO RGD:1322583 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 7498198 Zfp174 zinc finger protein 174 gene DOID:630 genetic disease ISO RGD:1322583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7498933 Znf235-ps1 zinc finger protein 235, pseudogene 1 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1353655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 7498933 Znf235-ps1 zinc finger protein 235, pseudogene 1 gene DOID:5419 schizophrenia ISO RGD:1353655 D RGD:8554872 20211228 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7498933 Znf235-ps1 zinc finger protein 235, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1353655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7500178 Rnf212b ring finger protein 212B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 7500178 Rnf212b ring finger protein 212B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 7500178 Rnf212b ring finger protein 212B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347248 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 7503535 Tarp TCR gamma alternate reading frame protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604885 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 7503535 Tarp TCR gamma alternate reading frame protein gene DOID:630 genetic disease ISO RGD:1604885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7505493 Rcor1 REST corepressor 1 gene DOID:0050777 Joubert syndrome ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:26489029 7505493 Rcor1 REST corepressor 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1313957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 7505493 Rcor1 REST corepressor 1 gene DOID:630 genetic disease ISO RGD:1313957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7505493 Rcor1 REST corepressor 1 gene DOID:9001849 Mitochondrial Complex IV Deficiency, Nuclear Type 17 ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 7505493 Rcor1 REST corepressor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313957 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 7509852 Ulbp1 UL16 binding protein 1 gene DOID:630 genetic disease ISO RGD:1345767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7510716 Zfp719 zinc finger protein 719 gene DOID:630 genetic disease ISO RGD:1346277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7513610 LOC102556504 titin-like gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:28492532 7513610 LOC102556504 titin-like gene DOID:630 genetic disease ISO RGD:1352942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7514905 LOC102550306 uncharacterized LOC102550306 gene DOID:630 genetic disease ISO RGD:1351674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7515741 Tex46 testis expressed 46 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:7256452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:0060041 autism spectrum disorder ISO RGD:1602416 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1602416 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:12849 autistic disorder ISO RGD:1602416 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:5419 schizophrenia ISO RGD:1602416 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:630 genetic disease ISO RGD:1602416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602416 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7517962 LOC102552988 uncharacterized LOC102552988 gene DOID:9007551 Hyperphosphatasia with Mental Retardation Syndrome 5 ISO RGD:1602416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 7519078 Ct47b1 cancer/testis antigen family 47, member B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2306151 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 7519078 Ct47b1 cancer/testis antigen family 47, member B1 gene DOID:12849 autistic disorder ISO RGD:2306151 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7519078 Ct47b1 cancer/testis antigen family 47, member B1 gene DOID:630 genetic disease ISO RGD:2306151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7520481 Wdr90 WD repeat domain 90 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 7520481 Wdr90 WD repeat domain 90 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 7520481 Wdr90 WD repeat domain 90 gene DOID:1826 epilepsy ISO RGD:1604213 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 7520481 Wdr90 WD repeat domain 90 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604213 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 7520481 Wdr90 WD repeat domain 90 gene DOID:630 genetic disease ISO RGD:1604213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604741 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:630 genetic disease ISO RGD:1604741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7528988 Lelp1 late cornified envelope-like proline-rich 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604741 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7529496 Znf454 zinc finger protein 454 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22008250|PMID:24715752|PMID:26628857|PMID:28492532|PMID:30718709 7529496 Znf454 zinc finger protein 454 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 7529496 Znf454 zinc finger protein 454 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 7529496 Znf454 zinc finger protein 454 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28492532|PMID:30718709 7529496 Znf454 zinc finger protein 454 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 7529496 Znf454 zinc finger protein 454 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 7529496 Znf454 zinc finger protein 454 gene DOID:630 genetic disease ISO RGD:1346228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 7529496 Znf454 zinc finger protein 454 gene DOID:8501 fundus dystrophy ISO RGD:1346228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 7529921 Samd1 sterile alpha motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1343473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7531244 LOC102546572 zinc finger protein 709-like gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 7531244 LOC102546572 zinc finger protein 709-like gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 7531244 LOC102546572 zinc finger protein 709-like gene DOID:0111254 glutaric acidemia I ISO RGD:1349638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 7531244 LOC102546572 zinc finger protein 709-like gene DOID:3413 alpha-mannosidosis ISO RGD:1349638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 7531244 LOC102546572 zinc finger protein 709-like gene DOID:630 genetic disease ISO RGD:1349638 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7536909 Ufsp1 UFM1-specific peptidase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604425 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 7536909 Ufsp1 UFM1-specific peptidase 1 gene DOID:630 genetic disease ISO RGD:1604425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7540019 Zfp764 zinc finger protein 764 gene DOID:630 genetic disease ISO RGD:1602103 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7541917 Zfp658 zinc finger protein 658 gene DOID:1059 intellectual disability ISO RGD:1603891 D RGD:8554872 20221025 ClinVar ClinVar Annotator: match by term: Intellectual disability 7541917 Zfp658 zinc finger protein 658 gene DOID:630 genetic disease ISO RGD:1603891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7545693 Podn podocan gene DOID:10283 prostate cancer ISO RGD:1320634 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 7545693 Podn podocan gene DOID:630 genetic disease ISO RGD:1320634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7547607 LOC102555578 zinc finger protein 120-like gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 7547607 LOC102555578 zinc finger protein 120-like gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 7547607 LOC102555578 zinc finger protein 120-like gene DOID:0111254 glutaric acidemia I ISO RGD:1348158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 7547607 LOC102555578 zinc finger protein 120-like gene DOID:3413 alpha-mannosidosis ISO RGD:1348158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 7547607 LOC102555578 zinc finger protein 120-like gene DOID:630 genetic disease ISO RGD:1348158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7548161 Pgbd2 piggyBac transposable element derived 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312360 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 7548161 Pgbd2 piggyBac transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1312360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7549926 Iqcn IQ motif containing N gene DOID:630 genetic disease ISO RGD:1353790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7549926 Iqcn IQ motif containing N gene DOID:9006326 Spermatogenic Failure 78 ISO RGD:1353790 D RGD:7240710 20221221 OMIM 7549926 Iqcn IQ motif containing N gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1353790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 7553363 Angptl7 angiopoietin like 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 7553363 Angptl7 angiopoietin like 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 7553363 Angptl7 angiopoietin like 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 7553363 Angptl7 angiopoietin like 7 gene DOID:630 genetic disease ISO RGD:1350833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7553363 Angptl7 angiopoietin like 7 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350833 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 7557291 Ctxnd1 cortexin domain containing 1 gene DOID:11372 megacolon ISO RGD:8655729 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 7559315 Coa6 cytochrome c oxidase assembly factor 6 gene DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 ISO RGD:1352912 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 7559315 Coa6 cytochrome c oxidase assembly factor 6 gene DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 ISO RGD:1352912 D RGD:7240710 20170301 OMIM 7559315 Coa6 cytochrome c oxidase assembly factor 6 gene DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 ISO RGD:1352912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 PMID:22277967|PMID:24549041|PMID:25339201|PMID:25741868|PMID:25959673|PMID:26160915|PMID:28492532 7559315 Coa6 cytochrome c oxidase assembly factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1352912 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7559315 Coa6 cytochrome c oxidase assembly factor 6 gene DOID:630 genetic disease ISO RGD:1352912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7559315 Coa6 cytochrome c oxidase assembly factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352912 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7559659 Sprr2d small proline-rich protein 2D gene DOID:0111940 immunodeficiency 42 ISO RGD:1344812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 7559659 Sprr2d small proline-rich protein 2D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 7559659 Sprr2d small proline-rich protein 2D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 7559659 Sprr2d small proline-rich protein 2D gene DOID:1540 parathyroid carcinoma ISO RGD:1344812 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7559659 Sprr2d small proline-rich protein 2D gene DOID:5812 MHC class II deficiency ISO RGD:1344812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 7559659 Sprr2d small proline-rich protein 2D gene DOID:630 genetic disease ISO RGD:1344812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7559659 Sprr2d small proline-rich protein 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344812 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7559893 Znf773 zinc finger protein 773 gene DOID:630 genetic disease ISO RGD:1605527 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7562538 Znf354b zinc finger protein 354B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 7562538 Znf354b zinc finger protein 354B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 7562538 Znf354b zinc finger protein 354B gene DOID:0112103 Sotos syndrome 1 ISO RGD:1346578 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sotos syndrome 1 PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 7562538 Znf354b zinc finger protein 354B gene DOID:630 genetic disease ISO RGD:1346578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7565188 Vcpkmt valosin containing protein lysine methyltransferase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314724 D RGD:8554872 20171031 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 7565188 Vcpkmt valosin containing protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7565188 Vcpkmt valosin containing protein lysine methyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 7567380 Miat myocardial infarction associated transcript gene DOID:14004 thoracic aortic aneurysm ISO RGD:1606629 D RGD:155260298|PMID:30989723 20220927 RGD mRNA:increased expression:thoracic aorta (human) 7567380 Miat myocardial infarction associated transcript gene DOID:5844 myocardial infarction ISO RGD:1606629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17066261 7567380 Miat myocardial infarction associated transcript gene DOID:5844 myocardial infarction ISO RGD:1606629 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:17066261 7567380 Miat myocardial infarction associated transcript gene DOID:5844 myocardial infarction susceptibility ISO RGD:1606629 D RGD:7240710 20190502 OMIM 7567380 Miat myocardial infarction associated transcript gene DOID:83 cataract ISO RGD:1606629 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:28272538 7570552 Zfp80 zinc finger protein 80 gene DOID:630 genetic disease ISO RGD:1350909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7571422 MAGEB10 MAGE family member B10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:14399337 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: MECP2 duplication syndrome PMID:25741868 7571422 MAGEB10 MAGE family member B10 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:127271127 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:22510846|PMID:23453023|PMID:24504883|PMID:28492532 7571422 MAGEB10 MAGE family member B10 gene DOID:12849 autistic disorder ISO RGD:14351525 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:21681106|PMID:30208311 7571422 MAGEB10 MAGE family member B10 gene DOID:630 genetic disease ISO RGD:156274375 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7571422 MAGEB10 MAGE family member B10 gene DOID:630 genetic disease ISO RGD:156304690 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7571422 MAGEB10 MAGE family member B10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:14698292 D RGD:9068941 20230518 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7573721 Smim27 small integral membrane protein 27 gene DOID:10584 retinitis pigmentosa ISO RGD:1625806 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 7573721 Smim27 small integral membrane protein 27 gene DOID:630 genetic disease ISO RGD:1625806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7576392 Plekhg7 pleckstrin homology and RhoGEF domain containing G7 gene DOID:630 genetic disease ISO RGD:1604901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7586448 Armcx5 armadillo repeat containing, X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350791 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 7586448 Armcx5 armadillo repeat containing, X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1350791 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7586448 Armcx5 armadillo repeat containing, X-linked 5 gene DOID:630 genetic disease ISO RGD:1350791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7588314 LOC102553760 zinc finger protein 59-like gene DOID:630 genetic disease ISO RGD:1343824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7596857 C14h4orf50 similar to human chromosome 4 open reading frame 50 gene DOID:6678 tooth and nail syndrome ISO RGD:1602802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 7600751 LOC102548917 zinc finger protein 844-like gene DOID:0050990 episodic ataxia type 2 ISO RGD:3207633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 7600751 LOC102548917 zinc finger protein 844-like gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:3207633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 7600751 LOC102548917 zinc finger protein 844-like gene DOID:0111254 glutaric acidemia I ISO RGD:3207633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 7600751 LOC102548917 zinc finger protein 844-like gene DOID:3413 alpha-mannosidosis ISO RGD:3207633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 7600751 LOC102548917 zinc finger protein 844-like gene DOID:630 genetic disease ISO RGD:3207633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7606541 Zscan22 zinc finger and SCAN domain containing 22 gene DOID:630 genetic disease ISO RGD:1315325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7606541 Zscan22 zinc finger and SCAN domain containing 22 gene DOID:9007188 Liver Neoplasms ISO RGD:1315325 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 7606925 Mosmo modulator of smoothened gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:2302534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:25741868 7606925 Mosmo modulator of smoothened gene DOID:12849 autistic disorder ISO RGD:2302534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7606925 Mosmo modulator of smoothened gene DOID:5419 schizophrenia ISO RGD:2302534 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7609558 Zfp768 zinc finger protein 768 gene DOID:630 genetic disease ISO RGD:1605951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7611738 Krtap17-1 keratin associated protein 17-1 gene DOID:630 genetic disease ISO RGD:1343387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7612453 Zfp446 zinc finger protein 446 gene DOID:630 genetic disease ISO RGD:1351503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7612453 Zfp446 zinc finger protein 446 gene DOID:9002189 High Myopia ISO RGD:1351503 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia 7612453 Zfp446 zinc finger protein 446 gene DOID:9007661 Dwarfism ISO RGD:1351503 D RGD:8554872 20190305 ClinVar ClinVar Annotator: match by term: Short stature 7612562 Ccdc200 coiled-coil domain containing 200 gene DOID:0080600 COVID-19 ISO RGD:6769766 D RGD:9068941 20210129 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 7613843 Znf16l-ps1 Zinc finger protein 16 like, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1342906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7615199 Tgm7 transglutaminase 7 gene DOID:2717 Bloom syndrome ISO RGD:1316891 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 7615199 Tgm7 transglutaminase 7 gene DOID:630 genetic disease ISO RGD:1316891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7615199 Tgm7 transglutaminase 7 gene DOID:9256 colorectal cancer ISO RGD:1316891 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 7617005 Znf829l-ps1 zinc finger protein 829 like, pseudogene 1 gene DOID:630 genetic disease ISO RGD:1353424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7617190 Tmem238l transmembrane protein 238 like gene DOID:9008443 Colorectal Neoplasms ISO RGD:6893029 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 7618014 LOC102552269 uncharacterized LOC102552269 gene DOID:5419 schizophrenia ISO RGD:4140188 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:0111940 immunodeficiency 42 ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:1540 parathyroid carcinoma ISO RGD:1352803 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:5812 MHC class II deficiency ISO RGD:1352803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:630 genetic disease ISO RGD:1352803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7624666 LOC102552326 late cornified envelope protein 5A-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352803 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7625105 Pcdhga6 protocadherin gamma subfamily A, 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343927 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 7625105 Pcdhga6 protocadherin gamma subfamily A, 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 7625105 Pcdhga6 protocadherin gamma subfamily A, 6 gene DOID:630 genetic disease ISO RGD:1343927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7625105 Pcdhga6 protocadherin gamma subfamily A, 6 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1343927 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 7625105 Pcdhga6 protocadherin gamma subfamily A, 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343927 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7625105 Pcdhga6 protocadherin gamma subfamily A, 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 7626838 LOC102551035 serine/arginine repetitive matrix protein 4-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5508282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 7626838 LOC102551035 serine/arginine repetitive matrix protein 4-like gene DOID:12849 autistic disorder ISO RGD:5508282 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7630023 Eml3 EMAP like 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 7630023 Eml3 EMAP like 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1606414 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 7630023 Eml3 EMAP like 3 gene DOID:1059 intellectual disability ISO RGD:1606414 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 7630023 Eml3 EMAP like 3 gene DOID:630 genetic disease ISO RGD:1606414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7630239 Sprr2b small proline rich protein 2B gene DOID:0111940 immunodeficiency 42 ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 7630239 Sprr2b small proline rich protein 2B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 7630239 Sprr2b small proline rich protein 2B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1348618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 7630239 Sprr2b small proline rich protein 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1348618 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7630239 Sprr2b small proline rich protein 2B gene DOID:2841 asthma ISO RGD:1348618 D RGD:11554173 20211026 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 7630239 Sprr2b small proline rich protein 2B gene DOID:5812 MHC class II deficiency ISO RGD:1348618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 7630239 Sprr2b small proline rich protein 2B gene DOID:630 genetic disease ISO RGD:1348618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7630239 Sprr2b small proline rich protein 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348618 D RGD:8554872 20211026 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7632725 Pcdhgb4 protocadherin gamma subfamily B, 4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1351676 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 7632725 Pcdhgb4 protocadherin gamma subfamily B, 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 7632725 Pcdhgb4 protocadherin gamma subfamily B, 4 gene DOID:630 genetic disease ISO RGD:1351676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7632725 Pcdhgb4 protocadherin gamma subfamily B, 4 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1351676 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 7632725 Pcdhgb4 protocadherin gamma subfamily B, 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351676 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7632725 Pcdhgb4 protocadherin gamma subfamily B, 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 7634115 LOC102550375 uncharacterized LOC102550375 gene DOID:630 genetic disease ISO RGD:1602072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7635192 Zfp623 zinc finger protein 623 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 7635192 Zfp623 zinc finger protein 623 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 7635192 Zfp623 zinc finger protein 623 gene DOID:4621 holoprosencephaly ISO RGD:1345531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 7635192 Zfp623 zinc finger protein 623 gene DOID:630 genetic disease ISO RGD:1345531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7637203 LOC102551003 keratin-associated protein 20-2-like gene DOID:630 genetic disease ISO RGD:1352120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7637527 Krtap22-2 keratin associated protein 22-2 gene DOID:630 genetic disease ISO RGD:1352489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7640129 Msantd7 Myb/SANT DNA binding domain containing 7 gene DOID:630 genetic disease ISO RGD:1350459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7641479 Higd1c HIG1 hypoxia inducible domain family, member 1C gene DOID:630 genetic disease ISO RGD:1602019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7644011 LOC102554666 zinc finger protein 709-like gene DOID:630 genetic disease ISO RGD:7244081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:0050476 Barth syndrome ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:0050800 creatine transporter deficiency ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:2308876 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:11372 megacolon ISO RGD:2308876 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:12849 autistic disorder ISO RGD:2308876 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:13628 favism ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:607 paraplegia ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:630 genetic disease ISO RGD:2308876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7647017 Cmc4 C-X9-C motif containing 4 gene DOID:9002720 Splenomegaly ISO RGD:2308876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 7649594 Dbf4b DBF4 zinc finger B gene DOID:630 genetic disease ISO RGD:1604789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7651604 Mettl21a methyltransferase 21A, HSPA lysine gene DOID:14557 primary pulmonary hypertension ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 7651604 Mettl21a methyltransferase 21A, HSPA lysine gene DOID:630 genetic disease ISO RGD:1602980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7651604 Mettl21a methyltransferase 21A, HSPA lysine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602980 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7653627 Dio3os DIO3 opposite strand upstream RNA gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1349148 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 7654081 CDRT15l1 CMT1A duplicated region transcript 15 like 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1603575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12207933|PMID:1303230|PMID:1677316|PMID:1822787|PMID:20493460|PMID:20739940|PMID:22190321|PMID:28492532 7654081 CDRT15l1 CMT1A duplicated region transcript 15 like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1603575 D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 7654081 CDRT15l1 CMT1A duplicated region transcript 15 like 1 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1603575 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 7654081 CDRT15l1 CMT1A duplicated region transcript 15 like 1 gene DOID:12849 autistic disorder ISO RGD:1603575 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7654081 CDRT15l1 CMT1A duplicated region transcript 15 like 1 gene DOID:5419 schizophrenia ISO RGD:1603575 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7654081 CDRT15l1 CMT1A duplicated region transcript 15 like 1 gene DOID:630 genetic disease ISO RGD:1603575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7654558 Sprr2f small proline rich protein 2F gene DOID:0111940 immunodeficiency 42 ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 7654558 Sprr2f small proline rich protein 2F gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 7654558 Sprr2f small proline rich protein 2F gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 7654558 Sprr2f small proline rich protein 2F gene DOID:1540 parathyroid carcinoma ISO RGD:1350197 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7654558 Sprr2f small proline rich protein 2F gene DOID:5812 MHC class II deficiency ISO RGD:1350197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 7654558 Sprr2f small proline rich protein 2F gene DOID:630 genetic disease ISO RGD:1350197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7654558 Sprr2f small proline rich protein 2F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350197 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7656374 Cfap58 cilia and flagella associated protein 58 gene DOID:0070311 oligoasthenoteratozoospermia ISS RGD:1621194 D RGD:13592920 20210601 MouseDO 7656374 Cfap58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:7240710 20210601 OMIM 7656374 Cfap58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 49 PMID:25741868|PMID:32791035 7656374 Cfap58 cilia and flagella associated protein 58 gene DOID:630 genetic disease ISO RGD:1317458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604177 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:3393 coronary artery disease ISO RGD:1604177 D RGD:14696712|PMID:31175347 20190723 RGD DNA:SNP: :rs56001051(human) 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:1604177 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25741868 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1604177 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:9007096 Stroke ISO RGD:1604177 D RGD:14696712|PMID:31175347 20190723 RGD DNA:SNP: :rs56001051(human) 7658417 LOC102551309 uncharacterized LOC102551309 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1604177 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 7661830 Dcaf16 DDB1 and CUL4 associated factor 16 gene DOID:630 genetic disease ISO RGD:1603212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7672286 Lyrm4 LYR motif containing 4 gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1345825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868 7672286 Lyrm4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:7240710 20141210 OMIM 7672286 Lyrm4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:23814038|PMID:25741868|PMID:28492532 7672286 Lyrm4 LYR motif containing 4 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1345825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:24161539|PMID:25741868|PMID:28492532|PMID:32007496 7672286 Lyrm4 LYR motif containing 4 gene DOID:630 genetic disease ISO RGD:1345825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7673510 Sertm2 serine rich and transmembrane domain containing 2 gene DOID:12849 autistic disorder ISO RGD:7249247 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7673510 Sertm2 serine rich and transmembrane domain containing 2 gene DOID:5419 schizophrenia ISO RGD:7249247 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7675413 Poln DNA polymerase nu gene DOID:10283 prostate cancer ISO RGD:1354283 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 7675413 Poln DNA polymerase nu gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354283 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 7675413 Poln DNA polymerase nu gene DOID:1856 cherubism ISO RGD:1354283 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 7675413 Poln DNA polymerase nu gene DOID:630 genetic disease ISO RGD:1354283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7675909 LOC102551828 uncharacterized LOC102551828 gene DOID:0111252 neurofibromatosis 2 ISO RGD:1604374 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 7675909 LOC102551828 uncharacterized LOC102551828 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:1604374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:28492532 7675909 LOC102551828 uncharacterized LOC102551828 gene DOID:1059 intellectual disability ISO RGD:1604374 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability 7675909 LOC102551828 uncharacterized LOC102551828 gene DOID:630 genetic disease ISO RGD:1604374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7675909 LOC102551828 uncharacterized LOC102551828 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:0060041 autism spectrum disorder ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:0060398 chromosome 16p11.2 deletion syndrome ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:23363396|PMID:24811917|PMID:28492532 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25741868 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:12849 autistic disorder ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:1882 atrial heart septal defect ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:5419 schizophrenia ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 7676737 Cdiptos CDIP transferase, opposite strand gene DOID:9006640 16p11.2 Deletion Syndrome ISO RGD:7244483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: 16p11.2 deletion syndrome 7678027 Kmt2b lysine methyltransferase 2B gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1605411 D RGD:9588601|PMID:22713656 20141031 RGD human gene in a mouse model 7678027 Kmt2b lysine methyltransferase 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 7678027 Kmt2b lysine methyltransferase 2B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 7678027 Kmt2b lysine methyltransferase 2B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 7678027 Kmt2b lysine methyltransferase 2B gene DOID:0111152 multicentric Castleman disease ISO RGD:1605411 D RGD:8554872 20190924 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 7678027 Kmt2b lysine methyltransferase 2B gene DOID:10283 prostate cancer ISO RGD:1605411 D RGD:9587761|PMID:24200674 20141016 RGD mRNA:decreased expression:prostate gland (human) 7678027 Kmt2b lysine methyltransferase 2B gene DOID:1059 intellectual disability ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 7678027 Kmt2b lysine methyltransferase 2B gene DOID:12849 autistic disorder ISO RGD:1605411 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Autism 7678027 Kmt2b lysine methyltransferase 2B gene DOID:13580 cholestasis ISO RGD:1623920 D RGD:9588602|PMID:21330447 20141031 RGD mRNA:decreased expression:liver (mouse) 7678027 Kmt2b lysine methyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1605411 D RGD:9588564|PMID:24491801 20141030 RGD mRNA:increased expression:breast (human) 7678027 Kmt2b lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27992417 7678027 Kmt2b lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:11554173 20190416 CTD CTD Direct Evidence: marker/mechanism 7678027 Kmt2b lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362|PMID:33150406 7678027 Kmt2b lysine methyltransferase 2B gene DOID:630 genetic disease ISO RGD:1605411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:31216378 7678027 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22634754 7678027 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9588597|PMID:18320596 20141031 RGD DNA:insertions, translocations:intron:IVS3, multiple (human) 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605411 D RGD:150429741|PMID:33291558 20211119 RGD associated with lung adenocarcinoma 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9001722 Dysarthria ISO RGD:1605411 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:27992417|PMID:32581362 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:7240710 20190315 OMIM 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 28, childhood-onset PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29697234|PMID:31216378|PMID:32581362|PMID:32860008|PMID:33098801|PMID:33619735 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:7240710 20220720 OMIM 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 PMID:25741868 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1605411 D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741878 7678027 Kmt2b lysine methyltransferase 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1623920 D RGD:9588599|PMID:25079327 20141031 RGD 7679103 Zfp28 zinc finger protein 28 gene DOID:630 genetic disease ISO RGD:1347669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7680407 Ccdc168 coiled-coil domain containing 168 gene DOID:0110878 holoprosencephaly 5 ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 7680407 Ccdc168 coiled-coil domain containing 168 gene DOID:14701 propionic acidemia ISO RGD:4109693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 7680407 Ccdc168 coiled-coil domain containing 168 gene DOID:630 genetic disease ISO RGD:4109693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7680407 Ccdc168 coiled-coil domain containing 168 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:4109693 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 7680407 Ccdc168 coiled-coil domain containing 168 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 7681336 Ezhip EZH inhibitory protein gene DOID:12849 autistic disorder ISO RGD:1603340 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7683241 Lrrc53 leucine rich repeat containing 53 gene DOID:630 genetic disease ISO RGD:2292704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 7683241 Lrrc53 leucine rich repeat containing 53 gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:2292704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30010057|PMID:34203974 7683338 LOC102554746 uncharacterized LOC102554746 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:7242868 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 7685108 Tmem94 transmembrane protein 94 gene DOID:10283 prostate cancer ISO RGD:1605409 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 7685108 Tmem94 transmembrane protein 94 gene DOID:630 genetic disease ISO RGD:1605409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 7685108 Tmem94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:7240710 20210127 OMIM 7685108 Tmem94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition PMID:25741868|PMID:28097321|PMID:30526868|PMID:32825426 7685108 Tmem94 transmembrane protein 94 gene DOID:9006534 Nervous System Malformations ISO RGD:1605409 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 7687446 Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1342693 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 7687446 Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B gene DOID:0080600 COVID-19 ISO RGD:1342693 D RGD:9068941 20230413 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 7687446 Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B gene DOID:0110255 cataract 5 multiple types ISO RGD:1342693 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 7687446 Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B gene DOID:630 genetic disease ISO RGD:1342693 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7687446 Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342693 D RGD:11554173 20230418 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 7690861 Sprr2g small proline rich protein 2G gene DOID:0111940 immunodeficiency 42 ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 7690861 Sprr2g small proline rich protein 2G gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 7690861 Sprr2g small proline rich protein 2G gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 7690861 Sprr2g small proline rich protein 2G gene DOID:1540 parathyroid carcinoma ISO RGD:1347541 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7690861 Sprr2g small proline rich protein 2G gene DOID:5812 MHC class II deficiency ISO RGD:1347541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 7690861 Sprr2g small proline rich protein 2G gene DOID:630 genetic disease ISO RGD:1347541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7690861 Sprr2g small proline rich protein 2G gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347541 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 PMID:16941474|PMID:17576681|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:16199547|PMID:16941474|PMID:18524657|PMID:25741868|PMID:28492532 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:2304158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:2304158 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:23757202|PMID:25741868|PMID:26646981|PMID:28492532|PMID:29160035|PMID:33558080|PMID:8198123|PMID:8199591|PMID:9536098 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:12804 mucopolysaccharidosis IV ISO RGD:2304158 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Morquio syndrome 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:3322 GM1 gangliosidosis ISO RGD:2304158 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:16941474|PMID:25741868|PMID:28492532 7696429 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:630 genetic disease ISO RGD:2304158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 7697243 LOC102551340 zinc finger protein 728-like gene DOID:630 genetic disease ISO RGD:5133819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7708626 Nfilz NFIL3 like basic leucine zipper gene DOID:12849 autistic disorder ISO RGD:11569668 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7710512 Zfp619 zinc finger protein 619 gene DOID:630 genetic disease ISO RGD:2302450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7711400 Tex50 testis expressed 50 gene DOID:3755 antithrombin III deficiency ISO RGD:12879508 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 7716070 Hotairm1 Hoxa transcript antisense RNA, myeloid-specific 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5133393 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 7718701 LOC102547287 zinc finger protein 728-like gene DOID:630 genetic disease ISO RGD:1352835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:5013846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:12844284|PMID:16773562|PMID:17427195|PMID:21194675|PMID:21417916|PMID:21532617|PMID:2338203|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:0050787 juvenile polyposis syndrome ISO RGD:5013846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:5013846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:12844284|PMID:16773562|PMID:17427195|PMID:21417916|PMID:2338203|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:5013846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:11906179|PMID:12844284|PMID:16052674|PMID:16287957|PMID:16685657|PMID:16773562|PMID:17427195|PMID:18456716|PMID:18510548|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21633361|PMID:21926107|PMID:21956414|PMID:22171747|PMID:22382802|PMID:22595938|PMID:22993021|PMID:23132533|PMID:23161105|PMID:23331837|PMID:23335809|PMID:2338203|PMID:23399955|PMID:23475934|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26229595|PMID:26467025|PMID:26800850|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532|PMID:28526761|PMID:30311380|PMID:9286463|PMID:9467011 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:0081000 Cowden syndrome 4 ISO RGD:5013846 D RGD:7240710 20180829 OMIM 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:0081000 Cowden syndrome 4 ISO RGD:5013846 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:25741868 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:1826 epilepsy ISO RGD:5013846 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25669429|PMID:25741868|PMID:27535533 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:630 genetic disease ISO RGD:5013846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5013846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12844284|PMID:16773562|PMID:17427195|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21956414|PMID:2338203|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5013846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12844284|PMID:16773562|PMID:17427195|PMID:18794879|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21633361|PMID:21956414|PMID:22171747|PMID:23161105|PMID:2338203|PMID:23475934|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26800850|PMID:27535533|PMID:27878467|PMID:27884173|PMID:28492532|PMID:30311380 7720631 Klln killin, p53-regulated DNA replication inhibitor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5013846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12844284|PMID:16773562|PMID:17427195|PMID:18794879|PMID:20862607|PMID:21194675|PMID:21417916|PMID:21532617|PMID:21633361|PMID:21956414|PMID:22171747|PMID:23161105|PMID:2338203|PMID:23475934|PMID:24033266|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26800850|PMID:27535533|PMID:27854218|PMID:27878467|PMID:27884173|PMID:28492532|PMID:30311380 7720946 Smim6 small integral membrane protein 6 gene DOID:630 genetic disease ISO RGD:5134215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343784 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1343784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:12849 autistic disorder ISO RGD:1343784 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:630 genetic disease ISO RGD:1343784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7723901 Scml1 Scm polycomb group protein like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343784 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7725170 H4cl1 histone H4C like 1 gene DOID:630 genetic disease ISO RGD:1354264 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7726681 Jpx JPX transcript, XIST activator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3322361 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 7726681 Jpx JPX transcript, XIST activator gene DOID:12849 autistic disorder ISO RGD:3322361 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7728853 Crocc2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0080600 COVID-19 ISO RGD:10040878 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 7728853 Crocc2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:10040878 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 7728997 Fam177b family with sequence similarity 177 member B gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605784 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 7728997 Fam177b family with sequence similarity 177 member B gene DOID:1540 parathyroid carcinoma ISO RGD:1605784 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 7728997 Fam177b family with sequence similarity 177 member B gene DOID:630 genetic disease ISO RGD:1605784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7728997 Fam177b family with sequence similarity 177 member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605784 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 7729692 LOC102549061 histone H2B type 1-N-like gene DOID:630 genetic disease ISO RGD:1343461 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7729737 Krtap20-1 keratin associated protein 20-1 gene DOID:630 genetic disease ISO RGD:1344445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7730597 Hoxd11 homeobox D11 gene DOID:0080006 bone development disease ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 7730597 Hoxd11 homeobox D11 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1346896 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 7730597 Hoxd11 homeobox D11 gene DOID:12336 male infertility ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 7730597 Hoxd11 homeobox D11 gene DOID:12849 autistic disorder ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19540081 7730597 Hoxd11 homeobox D11 gene DOID:3070 high grade glioma ISO RGD:1346896 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 7730597 Hoxd11 homeobox D11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346896 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 7730597 Hoxd11 homeobox D11 gene DOID:557 kidney disease ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 7730597 Hoxd11 homeobox D11 gene DOID:630 genetic disease ISO RGD:1346896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7730597 Hoxd11 homeobox D11 gene DOID:7148 rheumatoid arthritis ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 7730597 Hoxd11 homeobox D11 gene DOID:9000918 Disease Progression ISO RGD:1346896 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 7730597 Hoxd11 homeobox D11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 7730597 Hoxd11 homeobox D11 gene DOID:9004998 Kyphoscoliosis IEP D RGD:11354896|PMID:18327665 20160728 RGD mRNA:decreased expression:verterbra 7730597 Hoxd11 homeobox D11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:7596412|PMID:7925020|PMID:8620844 7730597 Hoxd11 homeobox D11 gene DOID:9007364 Mouth Neoplasms ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 7730597 Hoxd11 homeobox D11 gene DOID:9008939 Breast Neoplasms ISO RGD:1346896 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 7732114 Eef1akmt4 EEF1A lysine methyltransferase 4 gene DOID:0111546 Currarino syndrome ISO RGD:12914190 D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 7732114 Eef1akmt4 EEF1A lysine methyltransferase 4 gene DOID:630 genetic disease ISO RGD:12914190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7736477 Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1604222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7736477 Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:1604222 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes 7740967 Nkain2 sodium/potassium transporting ATPase interacting 2 gene DOID:630 genetic disease ISO RGD:1349938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7741042 Bend2 BEN domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 7741042 Bend2 BEN domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350095 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 7741042 Bend2 BEN domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1350095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 7741042 Bend2 BEN domain containing 2 gene DOID:0111042 glycogen storage disease IXa ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 7741042 Bend2 BEN domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350095 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7741042 Bend2 BEN domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 7741042 Bend2 BEN domain containing 2 gene DOID:630 genetic disease ISO RGD:1350095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7741042 Bend2 BEN domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 7741042 Bend2 BEN domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350095 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347513 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:630 genetic disease ISO RGD:1347513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:9003634 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES ISO RGD:1347513 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and skeletal anomalies PMID:25741868|PMID:34244665 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347513 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 7743693 Pcdhgb6 protocadherin gamma subfamily B, 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1347513 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 7744876 Parp10 poly (ADP-ribose) polymerase family, member 10 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 7744876 Parp10 poly (ADP-ribose) polymerase family, member 10 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 7744876 Parp10 poly (ADP-ribose) polymerase family, member 10 gene DOID:4621 holoprosencephaly ISO RGD:1348193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 7744876 Parp10 poly (ADP-ribose) polymerase family, member 10 gene DOID:630 genetic disease ISO RGD:1348193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7744876 Parp10 poly (ADP-ribose) polymerase family, member 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1348193 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868 7747897 Zfp120 zinc finger protein 120 gene DOID:12849 autistic disorder ISO RGD:1353253 D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 7747897 Zfp120 zinc finger protein 120 gene DOID:630 genetic disease ISO RGD:1353253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7747897 Zfp120 zinc finger protein 120 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353253 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 7747960 Insl5 insulin like 5 gene DOID:1059 intellectual disability ISO RGD:1350939 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 7747960 Insl5 insulin like 5 gene DOID:630 genetic disease ISO RGD:1350939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 7771589 SS.SR-(D2Rat352-rs63922710)/Opaz strain DOID:8927 learning disability sexual_dimorphism IAGP D RGD:7495755|PMID:23861781 20201005 RGD in males compared to SS/JrHsd 7771589 SS.SR-(D2Rat352-rs63922710)/Opaz strain DOID:9008023 Memory Disorders sexual_dimorphism IAGP D RGD:7495755|PMID:23861781 20201005 RGD in males compared to SS/JrHsd 7771605 Memor19 Memory QTL 19 qtl DOID:8927 learning disability IAGP D RGD:7495755|PMID:23861781 20131220 RGD 7771605 Memor19 Memory QTL 19 qtl DOID:9008023 Memory Disorders IAGP D RGD:7495755|PMID:23861781 20131220 RGD 7771612 Cm80 Cardiac mass QTL 80 qtl DOID:10763 hypertension IAGP D RGD:7771608|PMID:23901062 20131220 RGD 7794784 Mcs31 Mammary carcinoma susceptibility QTL 31 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7794780|PMID:23967281 20140113 RGD 7794788 Mcs32 Mammary carcinoma susceptibility QTL 32 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7794780|PMID:23967281 20140113 RGD 7794791 Mcs33 Mammary carcinoma susceptibility QTL 33 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7794780|PMID:23967281 20140113 RGD 7794793 Mcs34 Mammary carcinoma susceptibility QTL 34 qtl DOID:9005233 Experimental Mammary Neoplasms IAGP D RGD:7794780|PMID:23967281 20140113 RGD 7800671 F344-Sv2am1Kyo strain DOID:9007090 Experimental Seizures IMP D RGD:12792961|PMID:27265781 20170317 RGD 8142383 SHRSP/BbbUtx strain DOID:9003234 Hypertensive Nephropathy IAGP D RGD:150429819|PMID:32075490 20211002 RGD compared to SHR/Utx, SHRSP.SHR-(rs197197017-rs198445122)/Utx 8157638 Rn7sl1 RNA component of signal recognition particle 7SL1 gene DOID:0080600 COVID-19 ISO RGD:1351215 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8157638 Rn7sl1 RNA component of signal recognition particle 7SL1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351215 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8157638 Rn7sl1 RNA component of signal recognition particle 7SL1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8549776 F344-Lepm1Kyo F344 OB rat strain DOID:9007692 Insulin Resistance IMP D RGD:8549777|PMID:23800849 20170317 RGD 8549776 F344-Lepm1Kyo F344 OB rat strain DOID:9970 obesity IMP D RGD:8549777|PMID:23800849 20170317 RGD 8552259 F344-Ldlrm1Kyo/Ta strain DOID:13810 familial hypercholesterolemia IMP D RGD:12910105|PMID:22293196 20211102 RGD compared to F344, wild type and heterozygous littermates 8552259 F344-Ldlrm1Kyo/Ta strain DOID:1936 atherosclerosis IMP D RGD:12910105|PMID:22293196 20211102 RGD compared to F344, wild type and heterozygous littermates 8552259 F344-Ldlrm1Kyo/Ta strain DOID:3345 xanthomatosis IMP D RGD:12910105|PMID:22293196 20211102 RGD compared to F344, wild type and heterozygous littermates 8552275 F344-Lgi1m1Kyo strain DOID:1826 epilepsy IMP D RGD:12792971|PMID:22589250 20170410 RGD DNA:missense mutation:cds:p.L385R (c.1154T>G)(Lgi1) 8552275 F344-Lgi1m1Kyo strain DOID:7725 epilepsy with generalized tonic-clonic seizures IMP XCO:0000048 D RGD:14995940|PMID:30813600 20191105 RGD compared to F344/NSlc 8552298 DA-Tyrem1Kyo strain DOID:9001386 Albinism IMP D RGD:12792973|PMID:23409244 20170410 RGD 8552341 DA.PVG.1AV1-(D10Got6-D10Rat184)/Kini strain DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:7242893|PMID:18292553 20170825 RGD 8552782 Vie1 Viral induced encephalitis QTL 1 qtl DOID:9003870 Herpes Simplex Encephalitis IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552791 Vie2 Viral induced encephalitis QTL 2 qtl DOID:9003870 Herpes Simplex Encephalitis IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552796 Vie3 Viral induced encephalitis QTL 3 qtl DOID:9003870 Herpes Simplex Encephalitis IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552801 Bw143 Body weight QTL 143 qtl DOID:9003287 Body Weight Changes IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552803 Bw144 Body weight QTL 144 qtl DOID:9003287 Body Weight Changes IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552805 Bw145 Body weight QTL 145 qtl DOID:9003287 Body Weight Changes IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552807 Vie4 Viral induced encephalitis QTL 4 qtl DOID:9003870 Herpes Simplex Encephalitis IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552809 Vie5 Viral induced encephalitis QTL 5 qtl DOID:9003870 Herpes Simplex Encephalitis IAGP D RGD:7240516|PMID:22761571 20140429 RGD 8552891 Epfw5 Epididymal fat weight QTL 5 qtl DOID:9001981 Weight Loss IAGP D RGD:8552892|PMID:24099777 20140430 RGD 8552900 Pigfal1 Plasma insulin-like growth factor 1 level QTL 1 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552900 Pigfal1 Plasma insulin-like growth factor 1 level QTL 1 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552903 Pigfal2 Plasma insulin-like growth factor 1 level QTL 2 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552903 Pigfal2 Plasma insulin-like growth factor 1 level QTL 2 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552906 Pigfal3 Plasma insulin-like growth factor 1 level QTL 3 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552906 Pigfal3 Plasma insulin-like growth factor 1 level QTL 3 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552908 Pigfal4 Plasma insulin-like growth factor 1 level QTL 4 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552908 Pigfal4 Plasma insulin-like growth factor 1 level QTL 4 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552910 Pigfal5 Plasma insulin-like growth factor 1 level QTL 5 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552910 Pigfal5 Plasma insulin-like growth factor 1 level QTL 5 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552912 Pigfal6 Plasma insulin-like growth factor 1 level QTL 6 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552912 Pigfal6 Plasma insulin-like growth factor 1 level QTL 6 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552918 Pigfal7 Plasma insulin-like growth factor 1 level QTL 7 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552918 Pigfal7 Plasma insulin-like growth factor 1 level QTL 7 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552920 Pigfal8 Plasma insulin-like growth factor 1 level QTL 8 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552920 Pigfal8 Plasma insulin-like growth factor 1 level QTL 8 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552928 Pigfal9 Plasma insulin-like growth factor 1 level QTL 9 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552928 Pigfal9 Plasma insulin-like growth factor 1 level QTL 9 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552935 Pigfal10 Plasma insulin-like growth factor 1 level QTL 10 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552935 Pigfal10 Plasma insulin-like growth factor 1 level QTL 10 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552948 Pigfal11 Plasma insulin-like growth factor 1 level QTL 11 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552948 Pigfal11 Plasma insulin-like growth factor 1 level QTL 11 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552950 Pigfal12 Plasma insulin-like growth factor 1 level QTL 12 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552950 Pigfal12 Plasma insulin-like growth factor 1 level QTL 12 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552952 Pigfal13 Plasma insulin-like growth factor 1 level QTL 13 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552952 Pigfal13 Plasma insulin-like growth factor 1 level QTL 13 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552954 Pigfal14 Plasma insulin-like growth factor 1 level QTL 14 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552954 Pigfal14 Plasma insulin-like growth factor 1 level QTL 14 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552960 Pigfal15 Plasma insulin-like growth factor 1 level QTL 15 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552960 Pigfal15 Plasma insulin-like growth factor 1 level QTL 15 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552962 Pigfal16 Plasma insulin-like growth factor 1 level QTL 16 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552962 Pigfal16 Plasma insulin-like growth factor 1 level QTL 16 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552964 Pigfal17 Plasma insulin-like growth factor 1 level QTL 17 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552964 Pigfal17 Plasma insulin-like growth factor 1 level QTL 17 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552966 Pigfal18 Plasma insulin-like growth factor 1 level QTL 18 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552966 Pigfal18 Plasma insulin-like growth factor 1 level QTL 18 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552968 Pigfal19 Plasma insulin-like growth factor 1 level QTL 19 qtl DOID:0014667 disease of metabolism IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8552968 Pigfal19 Plasma insulin-like growth factor 1 level QTL 19 qtl DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:7794844|PMID:24028904 20140501 RGD 8553187 FHH.BN(D14Rat98-D14Hmgc4)/Mcwi strain DOID:0050851 glomerulosclerosis ameliorates IAGP D RGD:9685539|PMID:25273069 20210826 RGD compared to FHH 8553187 FHH.BN(D14Rat98-D14Hmgc4)/Mcwi strain DOID:9001542 Albuminuria IAGP D RGD:9685539|PMID:25273069 20210826 RGD compared to BN 8553187 FHH.BN(D14Rat98-D14Hmgc4)/Mcwi strain DOID:9001542 Albuminuria ameliorates IAGP D RGD:9685539|PMID:25273069 20210826 RGD compared to FHH 8655649 Arrd1 Age-related retinal degeneration QTL 1 qtl DOID:4448 macular degeneration IAGP D RGD:7794750|PMID:22300709 20140521 RGD 8655655 Arrd2 Age-related retinal degeneration QTL 2 qtl DOID:4448 macular degeneration IAGP D RGD:7794750|PMID:22300709 20140521 RGD 8655855 Arrd3 Age-related retinal degeneration QTL 3 qtl DOID:83 cataract IAGP D RGD:7794750|PMID:22300709 20140521 RGD 8655906 Rf60 Renal function QTL 60 qtl DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655945 Rf61 Renal function QTL 61 qtl DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655949 Rf62 Renal function QTL 62 qtl DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655951 Rf63 Renal function QTL 63 qtl DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655959 Pur32 Proteinuria QTL 32 qtl DOID:576 proteinuria IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655959 Pur32 Proteinuria QTL 32 qtl DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655961 Kidm43 Kidney mass QTL 43 qtl DOID:9002165 Diabetic Nephropathies IAGP D RGD:8552897|PMID:24192394 20140523 RGD 8655977 W-Lepr+/+/Nin Wistar NIN lean strain DOID:8466 retinal degeneration MODEL: control IAGP D RGD:8655976|PMID:19369235 20200401 RGD compared to W-Leprfa/Nin 8655977 W-Lepr+/+/Nin Wistar NIN lean strain DOID:8466 retinal degeneration MODEL: control IAGP D RGD:8657053|PMID:23036575 20200401 RGD compared to W-Leprfa/Nin 8655992 W-LeprfaNin strain DOID:8466 retinal degeneration MODEL: spontaneous IAGP D RGD:8655976|PMID:19369235 20140527 RGD associated with aging; compared to W-Lepr+/+/Nin 8655992 W-LeprfaNin strain DOID:8466 retinal degeneration MODEL: spontaneous IAGP D RGD:8657053|PMID:23036575 20200401 RGD compared to W-Lepr+/+/Nin 8655992 W-LeprfaNin strain DOID:9004657 Weight Gain susceptibility IAGP D RGD:8655976|PMID:19369235 20140527 RGD 8655992 W-LeprfaNin strain DOID:9970 obesity susceptibility IAGP D RGD:8655976|PMID:19369235 20200401 RGD compared to W-Lepr+/+/Nin 8657050 Bw146 Body weight QTL 146 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8657042|PMID:24204914 20140528 RGD 8657050 Bw146 Body weight QTL 146 qtl DOID:9004657 Weight Gain IAGP D RGD:8657042|PMID:24204914 20140528 RGD 8657392 SS.LEW-(D10Rat155-D10Chm171)/Ayd strain DOID:9000040 Hypertrophy IAGP D RGD:8657382|PMID:23773896 20140609 RGD 8657392 SS.LEW-(D10Rat155-D10Chm171)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left IAGP D RGD:8657382|PMID:23773896 20140609 RGD 8657402 SS.LEW-(D3Rat52-D3Chm57),MNS-(D2Chm214-D2Chm302),LEW-(D10Rat194-D10Chm243)/Ayd strain DOID:9001747 Ventricular Dysfunction, Left IAGP D RGD:8657382|PMID:23773896 20140610 RGD 8657410 Bp374 Blood pressure QTL 374 qtl DOID:9000040 Hypertrophy IAGP D RGD:8657382|PMID:23773896 20140610 RGD 8657410 Bp374 Blood pressure QTL 374 qtl DOID:9001747 Ventricular Dysfunction, Left IAGP D RGD:8657382|PMID:23773896 20140610 RGD 8662350 Eae35 Experimental allergic encephalomyelitis QTL 35 qtl DOID:848 arthritis IAGP D RGD:8662331|PMID:20505148 20140620 RGD 8662350 Eae35 Experimental allergic encephalomyelitis QTL 35 qtl DOID:9002763 Experimental Autoimmune Encephalomyelitis IAGP D RGD:8662331|PMID:20505148 20140620 RGD 8662350 Eae35 Experimental allergic encephalomyelitis QTL 35 qtl DOID:9006647 Experimental Autoimmune Neuritis IAGP D RGD:8662331|PMID:20505148 20140620 RGD 8662823 Vetf5 Vascular elastic tissue fragility QTL 5 qtl DOID:13832 patent ductus arteriosus IAGP D RGD:8662443|PMID:17356016 20140625 RGD 8662828 Vetf6 Vascular elastic tissue fragility QTL 6 qtl DOID:13832 patent ductus arteriosus IAGP D RGD:8662443|PMID:17356016 20140625 RGD 8662832 Vetf7 Vascular elastic tissue fragility QTL 7 qtl DOID:13832 patent ductus arteriosus IAGP D RGD:8662443|PMID:17356016 20140625 RGD 8693608 Alc24 Alcohol consumption QTL 24 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693618 Alc25 Alcohol consumption QTL 25 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693622 Alc26 Alcohol consumption QTL 26 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693632 Alc27 Alcohol consumption QTL 27 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693635 Alc28 Alcohol consumption QTL 28 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693637 Alc29 Alcohol consumption QTL 29 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693641 Alc30 Alcohol consumption QTL 30 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693645 Alc31 Alcohol consumption QTL 31 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693654 Alc32 Alcohol consumption QTL 32 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693658 Alc33 Alcohol consumption QTL 33 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693661 Alc34 Alcohol consumption QTL 34 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693690 Alc35 Alcohol consumption QTL 35 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693697 Alc36 Alcohol consumption QTL 36 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8693699 Alc37 Alcohol consumption QTL 37 qtl DOID:1574 alcohol use disorder IAGP D RGD:8663441|PMID:24961585 20140718 RGD 8694166 Bw147 Body weight QTL 147 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694166 Bw147 Body weight QTL 147 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694169 Bw148 Body weight QTL 148 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694169 Bw148 Body weight QTL 148 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694173 Bw149 Body weight QTL 149 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694173 Bw149 Body weight QTL 149 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694179 Bw150 Body weight QTL 150 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694179 Bw150 Body weight QTL 150 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694181 Bw151 Body weight QTL 151 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694181 Bw151 Body weight QTL 151 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694186 Bw152 Body weight QTL 152 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694186 Bw152 Body weight QTL 152 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694189 Bw153 Body weight QTL 153 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694189 Bw153 Body weight QTL 153 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20140728 RGD 8694194 Abfw1 Abdominal fat weight QTL 1 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694194 Abfw1 Abdominal fat weight QTL 1 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694196 Abfw2 Abdominal fat weight QTL 2 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694196 Abfw2 Abdominal fat weight QTL 2 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694198 Abfw3 Abdominal fat weight QTL 3 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694198 Abfw3 Abdominal fat weight QTL 3 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694200 Abfw4 Abdominal fat weight QTL 4 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694200 Abfw4 Abdominal fat weight QTL 4 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694359 Abfw5 Abdominal fat weight QTL 5 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694359 Abfw5 Abdominal fat weight QTL 5 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694361 Abfw6 Abdominal fat weight QTL 6 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694361 Abfw6 Abdominal fat weight QTL 6 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694364 Abfw7 Abdominal fat weight QTL 7 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694364 Abfw7 Abdominal fat weight QTL 7 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694366 Abfw8 Abdominal fat weight QTL 8 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694366 Abfw8 Abdominal fat weight QTL 8 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 8694370 Bw154 Body weight QTL 154 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694370 Bw154 Body weight QTL 154 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694374 Bw155 Body weight QTL 155 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694374 Bw155 Body weight QTL 155 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694376 Bw156 Body weight QTL 156 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694376 Bw156 Body weight QTL 156 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694378 Bw157 Body weight QTL 157 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694378 Bw157 Body weight QTL 157 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694383 Bw158 Body weight QTL 158 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694383 Bw158 Body weight QTL 158 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694386 Bw159 Body weight QTL 159 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694386 Bw159 Body weight QTL 159 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694389 Bw160 Body weight QTL 160 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694389 Bw160 Body weight QTL 160 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694392 Bw161 Body weight QTL 161 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694392 Bw161 Body weight QTL 161 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694424 Bw162 Body weight QTL 162 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694424 Bw162 Body weight QTL 162 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694427 Bw163 Body weight QTL 163 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694427 Bw163 Body weight QTL 163 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694429 Bw164 Body weight QTL 164 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694429 Bw164 Body weight QTL 164 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694432 Bw165 Body weight QTL 165 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694432 Bw165 Body weight QTL 165 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694435 Bw166 Body weight QTL 166 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694435 Bw166 Body weight QTL 166 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694437 Bw167 Body weight QTL 167 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694437 Bw167 Body weight QTL 167 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694439 Bw168 Body weight QTL 168 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694439 Bw168 Body weight QTL 168 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694441 Bw169 Body weight QTL 169 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694441 Bw169 Body weight QTL 169 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694446 Bw170 Body weight QTL 170 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694446 Bw170 Body weight QTL 170 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694450 Bw171 Body weight QTL 171 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694450 Bw171 Body weight QTL 171 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694453 Bw172 Body weight QTL 172 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141124 RGD 8694453 Bw172 Body weight QTL 172 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141124 RGD 9074148 LOC103689958 olfactory receptor 49-like gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 9074148 LOC103689958 olfactory receptor 49-like gene DOID:5419 schizophrenia ISO RGD:1344490 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9074148 LOC103689958 olfactory receptor 49-like gene DOID:630 genetic disease ISO RGD:1344490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9074148 LOC103689958 olfactory receptor 49-like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344490 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9074148 LOC103689958 olfactory receptor 49-like gene DOID:9007661 Dwarfism ISO RGD:1344490 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9076871 Or11g26 olfactory receptor family 11 subfamily G member 26 gene DOID:630 genetic disease ISO RGD:1349951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9084586 C10h17orf102 similar to human chromosome 17 open reading frame102 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606635 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9087771 Usp9y ubiquitin specific peptidase 9, Y-linked gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1342718 D RGD:7240710 20160824 OMIM 9087771 Usp9y ubiquitin specific peptidase 9, Y-linked gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:1342718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked | ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2 PMID:10402373|PMID:10507722|PMID:10767340|PMID:19246359|PMID:25741868|PMID:9384609 9087771 Usp9y ubiquitin specific peptidase 9, Y-linked gene DOID:12849 autistic disorder ISO RGD:1342718 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9097277 Ssx2 SSX family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1626582 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9097277 Ssx2 SSX family member 2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1626582 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 9097277 Ssx2 SSX family member 2 gene DOID:12849 autistic disorder ISO RGD:1626582 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9101016 C1h19orf84 similar to human chromosome 19 open reading frame 84 gene DOID:0080600 COVID-19 ISO RGD:7778770 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9101016 C1h19orf84 similar to human chromosome 19 open reading frame 84 gene DOID:630 genetic disease ISO RGD:7778770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9102085 Prr21 proline rich 21 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:2306723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9102085 Prr21 proline rich 21 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:2306723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9102085 Prr21 proline rich 21 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:2306723 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 9102085 Prr21 proline rich 21 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:2306723 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9102085 Prr21 proline rich 21 gene DOID:1059 intellectual disability ISO RGD:2306723 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 9102085 Prr21 proline rich 21 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:2306723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9115869 Znf48 zinc finger protein 48 gene DOID:10283 prostate cancer ISO RGD:1343499 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9115869 Znf48 zinc finger protein 48 gene DOID:630 genetic disease ISO RGD:1343499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9125062 Rbmy1j RNA binding motif protein, Y-linked, family 1, member J gene DOID:12849 autistic disorder ISO RGD:1345023 D RGD:8554872 20220419 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9134184 LOC103693823 epididymal secretory protein E3-beta-like gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1354159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 9134184 LOC103693823 epididymal secretory protein E3-beta-like gene DOID:630 genetic disease ISO RGD:1354159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9134184 LOC103693823 epididymal secretory protein E3-beta-like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354159 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9147096 Frat1 FRAT regulator of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1604648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9153529 Fam133a family with sequence similarity 133, member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602817 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9153529 Fam133a family with sequence similarity 133, member A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602817 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 9153529 Fam133a family with sequence similarity 133, member A gene DOID:12849 autistic disorder ISO RGD:1602817 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9153529 Fam133a family with sequence similarity 133, member A gene DOID:630 genetic disease ISO RGD:1602817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9171458 Nyap2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:630 genetic disease ISO RGD:2311477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9171458 Nyap2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2311477 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9174049 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1350587 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 9174049 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1350587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9174049 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1350587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9174049 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350587 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9174727 Cox11 cytochrome c oxidase copper chaperone COX11 gene DOID:630 genetic disease ISO RGD:1320366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9174727 Cox11 cytochrome c oxidase copper chaperone COX11 gene DOID:9004597 Mitochondrial Complex IV Deficiency, Nuclear Type 23 ISO RGD:1320366 D RGD:7240710 20230505 OMIM 9174727 Cox11 cytochrome c oxidase copper chaperone COX11 gene DOID:9004597 Mitochondrial Complex IV Deficiency, Nuclear Type 23 ISO RGD:1320366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 PMID:36030551 9177508 Cebpzos CEBPZ opposite strand gene DOID:630 genetic disease ISO RGD:7380495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9203794 Zfy1 zinc finger protein 1, Y-linked gene DOID:9206 Barrett's esophagus ISO RGD:1602030 D RGD:11552890|PMID:26545406 20190219 RGD DNA:hypermethylation:esophageal squamous epithelium 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:0070168 spermatogenic failure 3 ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34755185 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 13 PMID:28175301 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:14227 azoospermia ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Azoospermia 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:630 genetic disease ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9234328 LOC103694811 glutaredoxin-1 pseudogene gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:5133069 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 74 PMID:25741868|PMID:34755185 9236890 LOC103690166 zinc finger protein OZF-like gene DOID:630 genetic disease ISO RGD:1350365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9238526 Zbed6 zinc finger, BED-type containing 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:3322020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9238526 Zbed6 zinc finger, BED-type containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:3322020 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9238526 Zbed6 zinc finger, BED-type containing 6 gene DOID:630 genetic disease ISO RGD:3322020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9238526 Zbed6 zinc finger, BED-type containing 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:3322020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9238526 Zbed6 zinc finger, BED-type containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3322020 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9246970 Ect2l epithelial cell transforming 2 like gene DOID:0080944 familial Behcet-like autoinflammatory syndrome ISO RGD:1353624 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 9246970 Ect2l epithelial cell transforming 2 like gene DOID:630 genetic disease ISO RGD:1353624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9250626 Haus2 HAUS augmin like complex subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1321425 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9250626 Haus2 HAUS augmin like complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9250626 Haus2 HAUS augmin like complex subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1321425 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9254548 Pnma6e PNMA family member 6E gene DOID:0050454 periventricular nodular heterotopia ISO RGD:12790877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9254548 Pnma6e PNMA family member 6E gene DOID:0050476 Barth syndrome ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9254548 Pnma6e PNMA family member 6E gene DOID:0050800 creatine transporter deficiency ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9254548 Pnma6e PNMA family member 6E gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12790877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9254548 Pnma6e PNMA family member 6E gene DOID:10588 adrenoleukodystrophy ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9254548 Pnma6e PNMA family member 6E gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9254548 Pnma6e PNMA family member 6E gene DOID:12849 autistic disorder ISO RGD:12790877 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9254548 Pnma6e PNMA family member 6E gene DOID:13628 favism ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9254548 Pnma6e PNMA family member 6E gene DOID:2729 dyskeratosis congenita ISO RGD:12790877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9254548 Pnma6e PNMA family member 6E gene DOID:607 paraplegia ISO RGD:12790877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9264595 LOC103691076 uncharacterized LOC103691076 gene DOID:630 genetic disease ISO RGD:1349071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9264599 Zfp558 zinc finger protein 558 gene DOID:12849 autistic disorder ISO RGD:1348018 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9264599 Zfp558 zinc finger protein 558 gene DOID:630 genetic disease ISO RGD:1348018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9273023 Zeb2-as1 ZEB2 antisense RNA 1 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:2800586 D RGD:8554872 20151215 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:12920073 9273023 Zeb2-as1 ZEB2 antisense RNA 1 gene DOID:6000 congestive heart failure ISO RGD:2800586 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 9275041 Kdm6a lysine demethylase 6A gene DOID:0050834 CHARGE syndrome ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532|PMID:29300383 9275041 Kdm6a lysine demethylase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9275041 Kdm6a lysine demethylase 6A gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1354488 D RGD:150429734|PMID:32923150 20210922 RGD DNA:mutations:multiple: (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:0060473 Kabuki syndrome ISO RGD:1354488 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism 9275041 Kdm6a lysine demethylase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354488 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9275041 Kdm6a lysine demethylase 6A gene DOID:0080006 bone development disease ISO RGD:1354488 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 9275041 Kdm6a lysine demethylase 6A gene DOID:0080188 chronic myelomonocytic leukemia ISS RGD:1558450 D RGD:13592920 20180830 MouseDO 9275041 Kdm6a lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 9275041 Kdm6a lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:150429732|PMID:23685749 20210922 RGD DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma exacerbates ISO RGD:1354488 D RGD:150429736|PMID:31483290 20210922 RGD DNA:mutations:multiple: (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:1354488 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:25741868 9275041 Kdm6a lysine demethylase 6A gene DOID:10283 prostate cancer ISO RGD:1354488 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9275041 Kdm6a lysine demethylase 6A gene DOID:10534 stomach cancer exacerbates ISO RGD:1354488 D RGD:150520203|PMID:32867456 20211105 RGD DNA:mutations:multiple (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:1059 intellectual disability ISO RGD:1354488 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 9275041 Kdm6a lysine demethylase 6A gene DOID:11054 urinary bladder cancer ISO RGD:1354488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 9275041 Kdm6a lysine demethylase 6A gene DOID:12849 autistic disorder ISO RGD:1354488 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9275041 Kdm6a lysine demethylase 6A gene DOID:1324 lung cancer exacerbates ISO RGD:1558450 D RGD:150429738|PMID:29632194 20210922 RGD 9275041 Kdm6a lysine demethylase 6A gene DOID:14566 disease of cellular proliferation ISO RGD:1354488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19330029 9275041 Kdm6a lysine demethylase 6A gene DOID:1612 breast cancer severity ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|PMID:23266085|REF_RGD_ID:9586031|REF_RGD_ID:9586731 9275041 Kdm6a lysine demethylase 6A gene DOID:1996 rectum adenocarcinoma exacerbates ISO RGD:1354488 D RGD:150429730|PMID:33174323 20210922 RGD mRNA:decreased expression:rectum (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:234 colon adenocarcinoma ISO RGD:1354488 D RGD:150429730|PMID:33174323 20210922 RGD DNA:hypermethylation 9275041 Kdm6a lysine demethylase 6A gene DOID:2671 transitional cell carcinoma ISO RGD:1354488 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 9275041 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 9275041 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:150429742|PMID:31804468 20210922 RGD mRNA:increased expression:esophagus (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1354488 D RGD:150429739|PMID:29351209 20210922 RGD protein:increased expression:esophagus (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354488 D RGD:150429731|PMID:32879445 20210922 RGD human cells in a mouse model 9275041 Kdm6a lysine demethylase 6A gene DOID:4006 bladder urothelial carcinoma susceptibility ISO RGD:1354488 D RGD:150429735|PMID:30352907 20210922 RGD associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:4450 renal cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 9275041 Kdm6a lysine demethylase 6A gene DOID:5409 lung small cell carcinoma ISO RGD:1354488 D RGD:150429733|PMID:31199602 20210922 RGD DNA:mutations:multiple: (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:5844 myocardial infarction IEP D RGD:151665136|PMID:30887465 20220311 RGD mRNA:incr expr:myocardium (rat) 9275041 Kdm6a lysine demethylase 6A gene DOID:630 genetic disease ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23076834|PMID:23913813|PMID:24728327|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 9275041 Kdm6a lysine demethylase 6A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354488 D RGD:150429729|PMID:32765772 20210922 RGD human cells in a mouse model 9275041 Kdm6a lysine demethylase 6A gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354488 D RGD:150429737|PMID:28197626 20210922 RGD mRNA:increased expression:mesothelium of pleural cavity (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1354488 D RGD:150429741|PMID:33291558 20210922 RGD associated with lung adenocarcinoma;protein:increased expression:brain (human) 9275041 Kdm6a lysine demethylase 6A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:11261516|PMID:19370762|PMID:23076834|PMID:23913813|PMID:24728327|PMID:25398587|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 9275041 Kdm6a lysine demethylase 6A gene DOID:9002165 Diabetic Nephropathies ISO RGD:1558450 D RGD:9587808|PMID:23508046 20141020 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:kidney (mouse) 9275041 Kdm6a lysine demethylase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354488 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9275041 Kdm6a lysine demethylase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354488 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9275041 Kdm6a lysine demethylase 6A gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:151665138|PMID:31266808 20220311 RGD 9275041 Kdm6a lysine demethylase 6A gene DOID:9007284 Precocious Puberty ISO RGD:1354488 D RGD:8554872 20210518 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 9275041 Kdm6a lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:7240710 20161012 OMIM 9275041 Kdm6a lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:11261516|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19370762|PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:24527667|PMID:24664873|PMID:24728327|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25398587|PMID:25741868|PMID:25972376|PMID:26467025|PMID:26633542|PMID:27302555|PMID:27777708|PMID:28492532|PMID:28708303|PMID:29300383|PMID:29302074|PMID:29758562|PMID:30107592|PMID:31883305|PMID:36672956|PMID:9536098 9275041 Kdm6a lysine demethylase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1354488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 9275041 Kdm6a lysine demethylase 6A gene DOID:9256 colorectal cancer ameliorates ISO RGD:1354488 D RGD:150429740|PMID:31139021 20210922 RGD human cells in a mouse model 9275041 Kdm6a lysine demethylase 6A gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:22377896|REF_RGD_ID:9684944 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352638 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352638 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1352638 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352638 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352638 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:630 genetic disease ISO RGD:1352638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9278179 Krtap5-1 keratin associated protein 5-1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1352638 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9281507 Emx2os Emx2 opposite strand/antisense RNA gene DOID:1826 epilepsy ISO RGD:1352483 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9281507 Emx2os Emx2 opposite strand/antisense RNA gene DOID:630 genetic disease ISO RGD:1352483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9281507 Emx2os Emx2 opposite strand/antisense RNA gene DOID:9006637 Schizencephaly ISO RGD:1352483 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Schizencephaly 9286049 Zfp600 zinc finger protein 600 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9286049 Zfp600 zinc finger protein 600 gene DOID:630 genetic disease ISO RGD:1349700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9286049 Zfp600 zinc finger protein 600 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9294064 Mfsd14a major facilitator superfamily domain containing 14A gene DOID:630 genetic disease ISO RGD:1313218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9294064 Mfsd14a major facilitator superfamily domain containing 14A gene DOID:9269 maple syrup urine disease ISO RGD:1313218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 9296500 Smim10l2a small integral membrane protein 10 like 2A gene DOID:12849 autistic disorder ISO RGD:1605492 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9298384 Smkr1 small lysine-rich protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:7204969 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9298384 Smkr1 small lysine-rich protein 1 gene DOID:630 genetic disease ISO RGD:7204969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9299787 Armh3 armadillo-like helical domain containing 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313900 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 9299863 Apela apelin receptor early endogenous ligand gene DOID:10591 pre-eclampsia ISS RGD:1624719 D RGD:13592920 20210128 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 9302596 Ervv-2 endogenous retrovirus group V member 2, envelope gene DOID:630 genetic disease ISO RGD:5132012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9319286 Atxn1l ataxin 1-like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1626546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9319286 Atxn1l ataxin 1-like gene DOID:630 genetic disease ISO RGD:1626546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9319286 Atxn1l ataxin 1-like gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1626546 D RGD:11554173 20220310 CTD CTD Direct Evidence: therapeutic PMID:17322884 9344254 Percc1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:7240710 20191204 OMIM 9344254 Percc1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital PMID:31217582 9345801 Thap8 THAP domain containing 8 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9345801 Thap8 THAP domain containing 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9345801 Thap8 THAP domain containing 8 gene DOID:630 genetic disease ISO RGD:1343379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9369725 Mgam maltase-glucoamylase gene DOID:0080690 RASopathy ISO RGD:1318097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 9369725 Mgam maltase-glucoamylase gene DOID:630 genetic disease ISO RGD:1318097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9369725 Mgam maltase-glucoamylase gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318097 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 9377071 Tbc1d12 TBC1 domain family, member 12 gene DOID:630 genetic disease ISO RGD:1343312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:2340 craniosynostosis ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:630 genetic disease ISO RGD:1603273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:9269 maple syrup urine disease ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9381183 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9394854 Pgbd1 piggyBac transposable element derived 1 gene DOID:11372 megacolon ISO RGD:1352422 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9394854 Pgbd1 piggyBac transposable element derived 1 gene DOID:5419 schizophrenia ISO RGD:1352422 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 9394854 Pgbd1 piggyBac transposable element derived 1 gene DOID:630 genetic disease ISO RGD:1352422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9403084 C2h5orf64 similar to human chromosome 5 open reading frame 64 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604480 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9407641 Wdr87 WD repeat domain 87 gene DOID:630 genetic disease ISO RGD:1602453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9410935 Hoxa10 homeobox A10 gene DOID:299 adenocarcinoma ISO RGD:1320375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 9410935 Hoxa10 homeobox A10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320375 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9410935 Hoxa10 homeobox A10 gene DOID:630 genetic disease ISO RGD:1320375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9410935 Hoxa10 homeobox A10 gene DOID:684 hepatocellular carcinoma ISO RGD:1320375 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9410935 Hoxa10 homeobox A10 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1320375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 9410935 Hoxa10 homeobox A10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 9411526 LOC103694272 uncharacterized LOC103694272 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:7207006 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 9411526 LOC103694272 uncharacterized LOC103694272 gene DOID:6420 pulmonary valve stenosis ISO RGD:7207006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 9413039 Ptges3l prostaglandin E synthase 3 like gene DOID:630 genetic disease ISO RGD:6483690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9421138 Tsnare1 t-SNARE domain containing 1 gene DOID:630 genetic disease ISO RGD:1606429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9462182 C1h9orf66 similar to human chromosome 9 open reading frame 66 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1347775 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 9462182 C1h9orf66 similar to human chromosome 9 open reading frame 66 gene DOID:0080545 hyper IgE syndrome ISO RGD:1347775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:14722525|PMID:16199547|PMID:17576681|PMID:19776401|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22476911|PMID:23380217|PMID:23859592|PMID:24797421|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26680607|PMID:27980540|PMID:28492532|PMID:33290277|PMID:9536098 9462182 C1h9orf66 similar to human chromosome 9 open reading frame 66 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1347775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:14722525|PMID:16199547|PMID:17576681|PMID:19776401|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22476911|PMID:23380217|PMID:23859592|PMID:24797421|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26680607|PMID:27980540|PMID:28492532|PMID:33290277|PMID:9536098 9462182 C1h9orf66 similar to human chromosome 9 open reading frame 66 gene DOID:5419 schizophrenia ISO RGD:1347775 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9462182 C1h9orf66 similar to human chromosome 9 open reading frame 66 gene DOID:627 severe combined immunodeficiency ISO RGD:1347775 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25724123|PMID:27891178|PMID:29930340|PMID:30697212|PMID:32888943 9462182 C1h9orf66 similar to human chromosome 9 open reading frame 66 gene DOID:630 genetic disease ISO RGD:1347775 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9465124 Arl14 ADP-ribosylation factor like GTPase 14 gene DOID:630 genetic disease ISO RGD:1349632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9472036 Poted POTE ankyrin domain family member D gene DOID:10652 Alzheimer's disease ISO RGD:1353593 D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 9472036 Poted POTE ankyrin domain family member D gene DOID:630 genetic disease ISO RGD:1353593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9472036 Poted POTE ankyrin domain family member D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353593 D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9587428 Epfw6 Epididymal fat weight QTL 6 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9587428 Epfw6 Epididymal fat weight QTL 6 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9588541 Ndufc2em2Mcwi NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin gene DOID:9007096 Stroke IMP D RGD:11040458|PMID:26888427 20160816 RGD DNA:deletion:exon 1:heterozygous 107 bp deletion 9589025 Epfw7 Epididymal fat weight QTL 7 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589025 Epfw7 Epididymal fat weight QTL 7 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589028 Epfw8 Epididymal fat weight QTL 8 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589028 Epfw8 Epididymal fat weight QTL 8 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589030 Epfw9 Epididymal fat weight QTL 9 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589030 Epfw9 Epididymal fat weight QTL 9 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589032 Epfw10 Epididymal fat weight QTL 10 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589032 Epfw10 Epididymal fat weight QTL 10 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589034 Epfw11 Epididymal fat weight QTL 11 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589034 Epfw11 Epididymal fat weight QTL 11 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589041 Epfw12 Epididymal fat weight QTL 12 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589041 Epfw12 Epididymal fat weight QTL 12 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589044 Scfw1 Subcutaneous fat weight QTL 1 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589044 Scfw1 Subcutaneous fat weight QTL 1 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589046 Scfw2 Subcutaneous fat weight QTL 2 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589046 Scfw2 Subcutaneous fat weight QTL 2 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589048 Scfw3 Subcutaneous fat weight QTL 3 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589048 Scfw3 Subcutaneous fat weight QTL 3 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589051 Scfw4 Subcutaneous fat weight QTL 4 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589051 Scfw4 Subcutaneous fat weight QTL 4 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589055 Scfw5 Subcutaneous fat weight QTL 5 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589055 Scfw5 Subcutaneous fat weight QTL 5 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589057 Scfw6 Subcutaneous fat weight QTL 6 qtl DOID:0060611 abdominal obesity-metabolic syndrome IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589057 Scfw6 Subcutaneous fat weight QTL 6 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589093 Slep10 Serum leptin concentration QTL 10 qtl DOID:0014667 disease of metabolism IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589093 Slep10 Serum leptin concentration QTL 10 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589097 Slep11 Serum leptin concentration QTL 11 qtl DOID:0014667 disease of metabolism IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589097 Slep11 Serum leptin concentration QTL 11 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589100 Slep12 Serum leptin concentration QTL 12 qtl DOID:0014667 disease of metabolism IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589100 Slep12 Serum leptin concentration QTL 12 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589102 Slep13 Serum leptin concentration QTL 13 qtl DOID:0014667 disease of metabolism IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589102 Slep13 Serum leptin concentration QTL 13 qtl DOID:9004657 Weight Gain IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589106 Insul23 Insulin level QTL 23 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589129 Insul24 Insulin level QTL 24 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589131 Insul25 Insulin level QTL 25 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589133 Insul26 Insulin level QTL 26 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589136 Insul27 Insulin level QTL 27 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589141 Insul28 Insulin level QTL 28 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589149 Insul29 Insulin level QTL 29 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589151 Insul30 Insulin level QTL 30 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9589153 Insul31 Insulin level QTL 31 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9589155 Insul32 Insulin level QTL 32 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9589158 Gluco65 Glucose level QTL 65 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589164 Gluco66 Glucose level QTL 66 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589814 Gluco67 Glucose level QTL 67 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589816 Gluco68 Glucose level QTL 68 qtl DOID:4194 glucose metabolism disease IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9589820 Insglur3 Insulin/glucose ratio QTL 3 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590080 Insglur4 Insulin/glucose ratio QTL 4 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590084 Insglur5 Insulin/glucose ratio QTL 5 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590086 Insglur6 Insulin/glucose ratio QTL 6 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590088 Insglur7 Insulin/glucose ratio QTL 7 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590090 Insglur8 Insulin/glucose ratio QTL 8 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590092 Insglur9 Insulin/glucose ratio QTL 9 qtl DOID:9007692 Insulin Resistance IAGP D RGD:8694157|PMID:25003539 20141125 RGD 9590095 Sffal3 Serum free fatty acids level QTL 3 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590100 Sffal4 Serum free fatty acids level QTL 4 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590102 Sffal5 Serum free fatty acids level QTL 5 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590104 Sffal6 Serum free fatty acids level QTL 6 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590107 Sffal7 Serum free fatty acids level QTL 7 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590109 Sffal8 Serum free fatty acids level QTL 8 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590136 Scort3 Serum corticosterone level QTL 3 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590140 Scort4 Serum corticosterone level QTL 4 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590142 Scort5 Serum corticosterone level QTL 5 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590144 Scort6 Serum corticosterone level QTL 6 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590147 Scort7 Serum corticosterone level QTL 7 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590151 Scort8 Serum corticosterone level QTL 8 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590154 Scort9 Serum corticosterone level QTL 9 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590248 Scort10 Serum corticosterone level QTL 10 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590250 Scort11 Serum corticosterone level QTL 11 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590252 Scort12 Serum corticosterone level QTL 12 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590268 Scort13 Serum corticosterone level QTL 13 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590272 Scort14 Serum corticosterone level QTL 14 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590275 Scort15 Serum corticosterone level QTL 15 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590284 SS-Tg(ApoC3-CETP)25Opaz strain DOID:9000808 Hypercholesterolemia IAGP D RGD:2290427|PMID:10581080 20200320 RGD compared to SS/JrHsd 9590284 SS-Tg(ApoC3-CETP)25Opaz strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:2290427|PMID:10581080 20200320 RGD compared to SS/JrHsd 9590286 Uminl1 Urine mineral level QTL 1 qtl DOID:9004004 Water-Electrolyte Imbalance IAGP D RGD:8694157|PMID:25003539 20141216 RGD 9590290 Uminl2 Urine mineral level QTL 2 qtl DOID:9004004 Water-Electrolyte Imbalance IAGP D RGD:8694157|PMID:25003539 20141216 RGD 9590292 Uminl3 Urine mineral level QTL 3 qtl DOID:9004004 Water-Electrolyte Imbalance IAGP D RGD:8694157|PMID:25003539 20141216 RGD 9590294 Uminl4 Urine mineral level QTL 4 qtl DOID:9004004 Water-Electrolyte Imbalance IAGP D RGD:8694157|PMID:25003539 20141216 RGD 9590298 Uminl5 Urine mineral level QTL 5 qtl DOID:9004004 Water-Electrolyte Imbalance IAGP D RGD:8694157|PMID:25003539 20141216 RGD 9590300 Scort16 Serum corticosterone level QTL 16 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590304 Scort17 Serum corticosterone level QTL 17 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590306 Scort18 Serum corticosterone level QTL 18 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590310 Scort19 Serum corticosterone level QTL 19 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590313 Scort20 Serum corticosterone level QTL 20 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590316 Scort21 Serum corticosterone level QTL 21 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9590318 Scort22 Serum corticosterone level QTL 22 qtl DOID:3146 lipid metabolism disorder IAGP D RGD:8694157|PMID:25003539 20141211 RGD 9685065 Swd6 Spike wave discharge measurement QTL 6 qtl DOID:1289 neurodegenerative disease IAGP D RGD:7794751|PMID:23903052 20141216 RGD 9685065 Swd6 Spike wave discharge measurement QTL 6 qtl DOID:1826 epilepsy IAGP D RGD:7794751|PMID:23903052 20141216 RGD 9685068 Swd7 Spike wave discharge measurement QTL 7 qtl DOID:1289 neurodegenerative disease IAGP D RGD:7794751|PMID:23903052 20141216 RGD 9685068 Swd7 Spike wave discharge measurement QTL 7 qtl DOID:1826 epilepsy IAGP D RGD:7794751|PMID:23903052 20141216 RGD 9685079 Mir676 microRNA 676 gene DOID:12849 autistic disorder ISO RGD:4888781 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9685082 Mir148a microRNA 148a gene DOID:10591 pre-eclampsia ameliorates IEP D RGD:213230155|PMID:31203154 20230323 RGD 9685082 Mir148a microRNA 148a gene DOID:2043 hepatitis B ISO RGD:1346027 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 9685082 Mir148a microRNA 148a gene DOID:219 colon cancer disease_progression ISO RGD:1346027 D RGD:153344546|PMID:28211508 20220824 RGD human cells in mouse model;RNA:increased expression:colon,exosome (human) 9685082 Mir148a microRNA 148a gene DOID:3021 acute kidney failure ISO RGD:1346027 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30682439 9685082 Mir148a microRNA 148a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346027 D RGD:8554872 20181003 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9685082 Mir148a microRNA 148a gene DOID:4989 pancreatitis ISO RGD:1346027 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:27840954 9685082 Mir148a microRNA 148a gene DOID:6000 congestive heart failure ISO RGD:1346027 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 9685082 Mir148a microRNA 148a gene DOID:9007188 Liver Neoplasms ISO RGD:1346027 D RGD:11554173 20200702 CTD CTD Direct Evidence: therapeutic PMID:32268151 9685082 Mir148a microRNA 148a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346027 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:25359176|PMID:28545106 9685084 Mir1b microRNA 1b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9685084 Mir1b microRNA 1b gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9685084 Mir1b microRNA 1b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9685084 Mir1b microRNA 1b gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346542 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 9685084 Mir1b microRNA 1b gene DOID:9005172 Lung Neoplasms ISO RGD:1615489 D RGD:11554173 20190219 CTD CTD Direct Evidence: marker/mechanism PMID:23761296 9685084 Mir1b microRNA 1b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346542 D RGD:11554173 20181225 CTD CTD Direct Evidence: marker/mechanism PMID:30125006 9685086 Fendrr FOXF1 adjacent non-coding developmental regulatory RNA gene DOID:0111985 immunodeficiency 32B ISO RGD:6482955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 9685086 Fendrr FOXF1 adjacent non-coding developmental regulatory RNA gene DOID:13042 persistent fetal circulation syndrome ISO RGD:6482955 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia PMID:25741868 9685090 Mir193b microRNA 193b gene DOID:0050860 colorectal adenoma disease_progression ISO RGD:1603767 D RGD:153344556|PMID:29226653 20220825 RGD RNA:decreased expression:blood plasma (human) 9685090 Mir193b microRNA 193b gene DOID:0080685 aortic dissection treatment ISO RGD:2314108 D RGD:156420156|PMID:33403385 20230219 RGD 9685090 Mir193b microRNA 193b gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1603767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 9685090 Mir193b microRNA 193b gene DOID:10534 stomach cancer disease_progression ISO RGD:1603767 D RGD:153344555|PMID:27071318 20220825 RGD RNA:decreased expression:stomach (human) 9685090 Mir193b microRNA 193b gene DOID:10534 stomach cancer exacerbates ISO RGD:1603767 D RGD:153344565|PMID:25374225 20220825 RGD RNA:decreased expression:stomach (human) 9685090 Mir193b microRNA 193b gene DOID:11054 urinary bladder cancer ISO RGD:1603767 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 9685090 Mir193b microRNA 193b gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1603767 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 9685090 Mir193b microRNA 193b gene DOID:2043 hepatitis B ISO RGD:1603767 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 9685090 Mir193b microRNA 193b gene DOID:6000 congestive heart failure ISO RGD:1603767 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 9685090 Mir193b microRNA 193b gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603767 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 9685090 Mir193b microRNA 193b gene DOID:9256 colorectal cancer ISO RGD:1603767 D RGD:153344556|PMID:29226653 20220825 RGD RNA:decreased expression:blood plasma (human) 9685094 Mirlet7g microRNA let-7g gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1344572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9685094 Mirlet7g microRNA let-7g gene DOID:6000 congestive heart failure ISO RGD:1344572 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 9685094 Mirlet7g microRNA let-7g gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344572 D RGD:11554173 20181009 CTD CTD Direct Evidence: marker/mechanism PMID:28545106 9685233 Aptr Alu-mediated CDKN1A/p21 transcriptional regulator gene DOID:630 genetic disease ISO RGD:6767468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9685233 Aptr Alu-mediated CDKN1A/p21 transcriptional regulator gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:6767468 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9685395 Tug1 taurine up-regulated 1 gene DOID:12858 Huntington's disease ISO RGD:1605999 D RGD:11073597|PMID:22202438 20160428 RGD up-regulated 9685395 Tug1 taurine up-regulated 1 gene DOID:9000039 Spinal Cord Injuries treatment IEP D RGD:38549580|PMID:30287503 20200902 RGD 9685625 F344-Il2rgem1Kyo strain DOID:0060013 X-linked severe combined immunodeficiency MODEL: spontaneous IMP D RGD:2316325|PMID:20111598 20190805 RGD 9685625 F344-Il2rgem1Kyo strain DOID:628 combined T cell and B cell immunodeficiency MODEL: spontaneous IMP D RGD:2316325|PMID:20111598 20170608 RGD 9685748 F344-Il2rgem2Kyo strain DOID:0060013 X-linked severe combined immunodeficiency MODEL: spontaneous IMP D RGD:2316325|PMID:20111598 20190805 RGD 9685748 F344-Il2rgem2Kyo strain DOID:628 combined T cell and B cell immunodeficiency MODEL: spontaneous IMP D RGD:2316325|PMID:20111598 20170608 RGD 9685793 SS.LEW-(D1Rat200-D1Mco136)/Bj strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:9685377|PMID:25231251 20150306 RGD compared to SS/Jr 9685799 Bp375 Blood pressure QTL 375 qtl DOID:10763 hypertension IDA D RGD:9685377|PMID:25231251 20150306 RGD as compared to parental SS 9685802 Bp376 Blood pressure QTL 376 qtl DOID:9006024 Hypotension IDA D RGD:9685377|PMID:25231251 20150306 RGD as compared to parental SS 9831158 Y59/Zgd strain DOID:11476 osteoporosis MODEL: induced IAGP XCO:0000469 D RGD:9831160|PMID:24271527 20150227 RGD